Name Chr MapInfo Alleles Transcript(s) Gene(s) In-exon Mutation(s) exm2268640 1 762320 [T/C] NR_024321 LINC00115 EXON Silent exm41 1 861349 [T/C] NM_152486 SAMD11 EXON Missense_P10S exm1916089 1 865545 [A/G] NM_152486 SAMD11 EXON Missense_R28Q exm44 1 865584 [A/G] NM_152486 SAMD11 EXON Missense_R41Q exm46 1 865625 [A/G] NM_152486 SAMD11 EXON Missense_D55N exm47 1 865628 [A/G] NM_152486 SAMD11 EXON Missense_G56S exm51 1 865662 [A/G] NM_152486 SAMD11 EXON Missense_R67Q exm53 1 865665 [A/G] NM_152486 SAMD11 EXON Missense_R68Q exm55 1 865694 [T/C] NM_152486 SAMD11 EXON Missense_H78Y exm56 1 865700 [T/C] NM_152486 SAMD11 EXON Missense_R80C exm60 1 866429 [T/C] NM_152486 SAMD11 EXON Missense_H89Y exm63 1 866438 [A/G] NM_152486 SAMD11 EXON Missense_V92M exm67 1 871159 [A/G] NM_152486 SAMD11 EXON Missense_G105S exm74 1 871213 [C/G] NM_152486 SAMD11 EXON Missense_P123A exm76 1 871228 [T/C] NM_152486 SAMD11 EXON Missense_R128C exm85 1 871276 [A/G] NM_152486 SAMD11 EXON Missense_G144S exm88 1 874456 [A/G] NM_152486 SAMD11 EXON Missense_R156H exm94 1 874501 [T/C] NM_152486 SAMD11 EXON Missense_S171L exm101 1 874673 [A/G] NM_152486 SAMD11 EXON Missense_R180Q exm104 1 874714 [T/C] NM_152486 SAMD11 EXON Missense_R194W exm106 1 874762 [T/C] NM_152486 SAMD11 EXON Missense_R210C exm116 1 877556 [A/G] NM_152486 SAMD11 EXON Missense_A304T exm2233917 1 878250 [A/G] NM_152486 SAMD11 EXON Missense_D459G exm145 1 878423 [T/C] NM_152486 SAMD11 EXON Missense_P517S exm151 1 878697 [A/G] NM_152486 SAMD11 EXON Nonsense_W543X exm158 1 878744 [G/C] NM_152486 SAMD11 EXON Missense_G559A exm174 1 879297 [T/C] NM_152486 SAMD11 EXON Missense_R604C exm1917884 1 879364 [A/G] NM_152486 SAMD11 EXON Missense_R626Q exm192 1 879381 [T/C] NM_152486 SAMD11 EXON Missense_L632F exm2275405 1 879439 [A/G] NM_152486 SAMD11 EXON Missense_G651D exm210 1 879481 [C/G] NM_152486 SAMD11 EXON Missense_G665A exm222 1 880160 [T/C] NM_015658 NOC2L EXON Missense_A722T exm2253572 1 880167 [A/G] NM_015658 NOC2L EXON Synonymous_D719D exm233 1 880466 [T/C] NM_015658 NOC2L EXON Missense_E705G exm241 1 880502 [T/C] NM_015658 NOC2L EXON Missense_R693Q exm246 1 880922 [T/C] NM_015658 NOC2L EXON Missense_D677N exm248 1 880942 [A/G] NM_015658 NOC2L EXON Missense_L670P exm249 1 880943 [A/G] NM_015658 NOC2L EXON Synonymous_L670L exm255 1 881554 [T/C] NM_015658 NOC2L EXON Missense_R639Q exm2253575 1 881627 [A/G] NM_015658 NOC2L EXON Synonymous_L615L exm2233921 1 881784 [T/C] NM_015658 NOC2L EXON Missense_V601M exm1917942 1 881825 [T/C] NM_015658 NOC2L EXON Missense_R587H exm268 1 881894 [A/G] NM_015658 NOC2L EXON Missense_A564V exm269 1 881918 [A/G] NM_015658 NOC2L EXON Missense_S556L exm284 1 883899 [T/G] NM_015658 NOC2L EXON Missense_N510H exm289 1 883947 [A/G] NM_015658 NOC2L EXON Missense_R494C exm314 1 887799 [T/C] NM_015658 NOC2L EXON Missense_R395H exm1918034 1 887812 [A/C] NM_015658 NOC2L EXON Missense_A391S exm323 1 887874 [A/G] NM_015658 NOC2L EXON Missense_P370L exm328 1 887967 [A/G] NM_015658 NOC2L EXON Missense_T339M exm332 1 888563 [T/C] NM_015658 NOC2L EXON Missense_V332I exm340 1 888659 [T/C] NM_015658 NOC2L EXON Missense_I300V exm348 1 889238 [A/G] NM_015658 NOC2L EXON Missense_A271V exm352 1 889387 [T/C] NM_015658 NOC2L EXON Missense_I258M exm355 1 889403 [T/A] NM_015658 NOC2L EXON Missense_Y253F exm360 1 891309 [T/C] NM_015658 NOC2L EXON Missense_S231N exm369 1 891358 [T/G] NM_015658 NOC2L EXON Missense_L215I exm371 1 891384 [A/G] NM_015658 NOC2L EXON Missense_A206V exm372 1 891393 [A/G] NM_015658 NOC2L EXON Missense_A203V exm382 1 891591 [T/C] NM_015658 NOC2L EXON Missense_R164H exm383 1 891592 [A/G] NM_015658 NOC2L EXON Missense_R164C exm395 1 892380 [A/G] NM_015658 NOC2L EXON Missense_A127V exm396 1 892388 [G/C] NM_015658 NOC2L EXON Missense_E124D exm1918242 1 892648 [T/C] NM_015658 NOC2L EXON Missense_R62H exm410 1 894315 [A/G] NM_015658 NOC2L EXON Missense_S58L exm411 1 894330 [A/G] NM_015658 NOC2L EXON Missense_P53L exm2264981 1 894573 [A/G] NM_015658 NOC2L Silent exm425 1 894610 [A/G] NM_015658 NOC2L EXON Missense_A4V exm447 1 897009 [A/G] NM_198317 KLHL17 EXON Missense_N123S exm464 1 897285 [A/G] NM_198317 KLHL17 EXON Missense_D190G exm493 1 897849 [T/C] NM_198317 KLHL17 EXON Missense_R276W exm503 1 898153 [A/C] NM_198317 KLHL17 EXON Missense_L300M exm513 1 898247 [A/G] NM_198317 KLHL17 EXON Missense_R331H exm534 1 898542 [A/G] NM_198317 KLHL17 EXON Missense_T366A exm545 1 898782 [T/C] NM_198317 KLHL17 EXON Missense_P418L exm546 1 898787 [T/G] NM_198317 KLHL17 EXON Missense_V420L exm554 1 898869 [T/C] NM_198317 KLHL17 EXON Missense_A447V exm564 1 899489 [A/G] NM_198317 KLHL17 EXON Missense_G483R exm570 1 899537 [A/G] NM_198317 KLHL17 EXON Missense_T499A exm580 1 899789 [A/G] NM_198317 KLHL17 EXON Missense_V527M exm2253593 1 900427 [A/G] NM_198317 KLHL17 EXON Synonymous_E595E exm596 1 900427 [A/G] NM_198317 KLHL17 EXON Synonymous_E595E exm603 1 900519 [A/G] NM_198317 KLHL17 EXON Missense_N626S exm611 1 900560 [A/C] NM_198317 KLHL17 EXON Missense_T640P exm1918827 1 901922 [A/G] NM_001160184,NM_032129 PLEKHN1,PLEKHN1 EXON Missense_S4N,Missense_S4N exm615 1 901923 [A/C] NM_001160184,NM_032129 PLEKHN1,PLEKHN1 EXON Missense_S4R,Missense_S4R exm624 1 902088 [A/G] NM_001160184,NM_032129 PLEKHN1,PLEKHN1 EXON Missense_D30N,Missense_D30N exm628 1 902128 [T/C] NM_001160184,NM_032129 PLEKHN1,PLEKHN1 EXON Missense_A43V,Missense_A43V exm629 1 902133 [C/G] NM_001160184,NM_032129 PLEKHN1,PLEKHN1 EXON Missense_R45G,Missense_R45G exm635 1 902176 [T/C] NM_001160184,NM_032129 PLEKHN1,PLEKHN1 EXON Missense_P59L,Missense_P59L exm638 1 905723 [A/G] NM_001160184,NM_032129 PLEKHN1,PLEKHN1 EXON Missense_G84R,Missense_G84R exm639 1 905729 [T/C] NM_001160184,NM_032129 PLEKHN1,PLEKHN1 EXON Missense_R86W,Missense_R86W exm648 1 905901 [A/G] NM_001160184,NM_032129 PLEKHN1,PLEKHN1 EXON Missense_D111N,Missense_D111N exm656 1 906067 [A/G] NM_001160184,NM_032129 PLEKHN1,PLEKHN1 EXON Missense_G138E,Missense_G138E exm662 1 906100 [T/C] NM_001160184,NM_032129 PLEKHN1,PLEKHN1 EXON Missense_P149L,Missense_P149L exm668 1 906132 [A/G] NM_001160184,NM_032129 PLEKHN1,PLEKHN1 EXON Missense_I160V,Missense_I160V exm674 1 906298 [A/G] NM_001160184,NM_032129 PLEKHN1,PLEKHN1 EXON Missense_R175Q,Missense_R175Q exm1918903 1 906472 [A/G] NM_001160184,NM_032129 PLEKHN1,PLEKHN1 EXON Missense_E210K,Silent exm684 1 906494 [A/G] NM_001160184,NM_032129 PLEKHN1,PLEKHN1 EXON Missense_R217H,Missense_R205H exm687 1 906512 [A/G] NM_001160184,NM_032129 PLEKHN1,PLEKHN1 EXON Missense_R223Q,Missense_R211Q exm694 1 906583 [A/G] NM_001160184,NM_032129 PLEKHN1,PLEKHN1 EXON Missense_A247T,Missense_A235T exm697 1 906717 [A/G] NM_001160184,NM_032129 PLEKHN1,PLEKHN1 EXON Missense_R253Q,Missense_R241Q exm714 1 907676 [T/A] NM_001160184,NM_032129 PLEKHN1,PLEKHN1 EXON Missense_I304F,Missense_I292F exm717 1 907709 [A/G] NM_001160184,NM_032129 PLEKHN1,PLEKHN1 EXON Missense_E315K,Missense_E303K exm725 1 907799 [T/C] NM_001160184,NM_032129 PLEKHN1,PLEKHN1 EXON Missense_S345P,Missense_S333P exm727 1 908275 [A/G] NM_001160184,NM_032129 PLEKHN1,PLEKHN1 EXON Missense_G358D,Missense_G346D exm1918959 1 908323 [A/G] NM_001160184,NM_032129 PLEKHN1,PLEKHN1 EXON Missense_R374H,Missense_R362H exm738 1 908389 [T/C] NM_001160184,NM_032129 PLEKHN1,PLEKHN1 EXON Missense_P396L,Missense_P384L exm739 1 908390 [A/G] NM_001160184,NM_032129 PLEKHN1,PLEKHN1 EXON Synonymous_P396P,Synonymous_P384P exm741 1 908585 [A/G] NM_001160184,NM_032129 PLEKHN1,PLEKHN1 EXON Silent,Missense_R391H exm742 1 908587 [A/G] NM_001160184,NM_032129 PLEKHN1,PLEKHN1 EXON Silent,Missense_A392T exm762 1 908944 [T/C] NM_001160184,NM_032129 PLEKHN1,PLEKHN1 EXON Missense_S418L,Missense_S453L exm766 1 909006 [T/C] NM_001160184,NM_032129 PLEKHN1,PLEKHN1 EXON Missense_R439W,Missense_R474W exm767 1 909015 [G/C] NM_001160184,NM_032129 PLEKHN1,PLEKHN1 EXON Missense_E442Q,Missense_E477Q exm773 1 909238 [G/C] NM_001160184,NM_032129 PLEKHN1,PLEKHN1 EXON Missense_R452P,Missense_R487P exm777 1 909253 [T/C] NM_001160184,NM_032129 PLEKHN1,PLEKHN1 EXON Missense_S457L,Missense_S492L exm779 1 909268 [T/C] NM_001160184,NM_032129 PLEKHN1,PLEKHN1 EXON Missense_S462L,Missense_S497L exm781 1 909276 [T/G] NM_001160184,NM_032129 PLEKHN1,PLEKHN1 EXON Missense_V465L,Missense_V500L exm782 1 909309 [T/C] NM_001160184,NM_032129 PLEKHN1,PLEKHN1 EXON Missense_S476P,Missense_S511P exm2253598 1 909320 [T/C] NM_001160184,NM_032129 PLEKHN1,PLEKHN1 EXON Synonymous_P479P,Synonymous_P514P exm792 1 909381 [T/C] NM_001160184,NM_032129 PLEKHN1,PLEKHN1 EXON Missense_R500W,Missense_R535W exm804 1 909846 [A/G] NM_001160184,NM_032129 PLEKHN1,PLEKHN1 EXON Missense_R541Q,Missense_R576Q exm810 1 909888 [T/C] NM_001160184,NM_032129 PLEKHN1,PLEKHN1 EXON Missense_S555F,Missense_S590F exm811 1 909917 [A/G] NM_001160184,NM_032129 PLEKHN1,PLEKHN1 EXON Missense_G565R,Missense_G600R exm860 1 934735 [A/C] NM_021170,NM_001142467 HES4,HES4 EXON Missense_F124V,Missense_F150V exm861 1 934770 [A/G] NM_021170,NM_001142467 HES4,HES4 EXON Missense_A112V,Missense_A138V exm866 1 934801 [T/C] NM_021170,NM_001142467 HES4,HES4 EXON Missense_A102T,Missense_A128T exm878 1 935085 [A/G] NM_021170,NM_001142467 HES4,HES4 EXON Missense_A64V,Missense_A90V exm880 1 935089 [C/G] NM_021170,NM_001142467 HES4,HES4 EXON Missense_D63H,Missense_D89H exm897 1 949422 [A/G] NM_005101 ISG15 EXON Missense_S21N exm904 1 949491 [A/G] NM_005101 ISG15 EXON Missense_R44H exm905 1 949502 [T/C] NM_005101 ISG15 EXON Missense_H48Y exm912 1 949608 [A/G] NM_005101 ISG15 EXON Missense_S83N exm925 1 949802 [A/G] NM_005101 ISG15 EXON Missense_V148M exm928 1 949832 [A/G] NM_005101 ISG15 EXON Missense_G158S exm958 1 970687 [T/C] NM_198576 AGRN EXON Missense_P165L exm988 1 976963 [A/G] NM_198576 AGRN EXON Missense_Q353R exm991 1 977028 [T/G] NM_198576 AGRN EXON Missense_A375S exm999 1 977356 [T/C] NM_198576 AGRN EXON Missense_R400W exm1002 1 977396 [A/G] NM_198576 AGRN EXON Missense_R413H exm1013 1 978628 [T/C] NM_198576 AGRN EXON Missense_P465L exm1016 1 978645 [A/G] NM_198576 AGRN EXON Missense_V471M exm1019 1 978694 [T/C] NM_198576 AGRN EXON Missense_A487V exm1022 1 978747 [A/G] NM_198576 AGRN EXON Missense_D505N exm1024 1 978762 [A/G] NM_198576 AGRN EXON Missense_G510S exm1029 1 978804 [T/C] NM_198576 AGRN EXON Missense_R524W exm1039 1 978974 [A/G] NM_198576 AGRN EXON Missense_V554M exm1061 1 979397 [A/G] NM_198576 AGRN EXON Missense_E665K exm1062 1 979400 [G/C] NM_198576 AGRN EXON Missense_Q666E exm1063 1 979491 [A/G] NM_198576 AGRN EXON Missense_E668K exm1078 1 979594 [T/C] NM_198576 AGRN EXON Missense_P702L exm1079 1 979720 [A/G] NM_198576 AGRN EXON Missense_G719S exm1081 1 979748 [T/A] NM_198576 AGRN EXON Missense_E728V exm1084 1 980552 [A/G] NM_198576 AGRN EXON Missense_A756T exm1085 1 980556 [T/C] NM_198576 AGRN EXON Missense_P757L exm1089 1 980595 [T/C] NM_198576 AGRN EXON Missense_P770L exm1092 1 980636 [A/G] NM_198576 AGRN EXON Missense_V784M exm1101 1 980863 [G/C] NM_198576 AGRN EXON Missense_N832K exm1107 1 980903 [T/C] NM_198576 AGRN EXON Missense_P846S exm1110 1 981131 [A/G] NM_198576 AGRN EXON Missense_Q852R exm1957023 1 981139 [A/G] NM_198576 AGRN EXON Missense_V855M exm1117 1 981223 [A/G] NM_198576 AGRN EXON Missense_G883S exm1123 1 981345 [T/C] NM_198576 AGRN EXON Synonymous_D894D exm1124 1 981353 [T/C] NM_198576 AGRN EXON Missense_A897V exm1125 1 981359 [T/C] NM_198576 AGRN EXON Missense_A899V exm1127 1 981376 [T/C] NM_198576 AGRN EXON Missense_R905C exm1131 1 981394 [T/C] NM_198576 AGRN EXON Missense_R911W exm1149 1 981852 [A/C] NM_198576 AGRN EXON Missense_A996E exm1160 1 981942 [A/C] NM_198576 AGRN EXON Missense_T1026N exm1164 1 981996 [T/C] NM_198576 AGRN EXON Missense_T1044M exm1170 1 982213 [C/G] NM_198576 AGRN EXON Missense_L1088F exm1176 1 982302 [A/C] NM_198576 AGRN EXON Missense_T1118K exm1179 1 982722 [A/G] NM_198576 AGRN EXON Missense_Q1135R exm1193 1 982968 [T/C] NM_198576 AGRN EXON Missense_R1178W exm1194 1 982969 [A/G] NM_198576 AGRN EXON Missense_R1178Q exm1196 1 983005 [A/G] NM_198576 AGRN EXON Missense_R1190H exm1198 1 983011 [A/G] NM_198576 AGRN EXON Missense_R1192Q exm1957373 1 983040 [A/G] NM_198576 AGRN EXON Missense_A1202T exm1206 1 983243 [T/C] NM_198576 AGRN EXON Missense_P1240L exm1210 1 983404 [T/C] NM_198576 AGRN EXON Missense_A1255V exm1219 1 983506 [T/C] NM_198576 AGRN EXON Missense_P1289L exm1957454 1 983695 [A/G] NM_198576 AGRN EXON Missense_G1352D exm1234 1 984280 [A/G] NM_198576 AGRN EXON Missense_R1380H exm1246 1 984656 [A/G] NM_198576 AGRN EXON Missense_V1447M exm1247 1 984660 [T/C] NM_198576 AGRN EXON Missense_P1448L exm1256 1 984723 [T/C] NM_198576 AGRN EXON Missense_S1469L exm1258 1 984794 [T/C] NM_198576 AGRN EXON Missense_L1493F exm1957592 1 984947 [A/G] NM_198576 AGRN EXON Missense_A1506T exm1264 1 984965 [A/G] NM_198576 AGRN EXON Missense_V1512M exm1265 1 984971 [A/G] NM_198576 AGRN EXON Missense_A1514T exm1269 1 985038 [T/C] NM_198576 AGRN EXON Missense_P1536L exm1300 1 985614 [T/C] NM_198576 AGRN EXON Synonymous_A1627A exm1312 1 985826 [A/G] NM_198576 AGRN EXON Missense_V1666I exm1334 1 986165 [A/G] NM_198576 AGRN EXON Missense_R1734H exm1348 1 986732 [A/G] NM_198576 AGRN EXON Missense_D1785N exm1957908 1 986963 [T/C] NM_198576 AGRN EXON Missense_P1834L exm1368 1 986998 [G/C] NM_198576 AGRN EXON Missense_G1846R exm1381 1 989155 [T/C] NM_198576 AGRN EXON Missense_H1892Y exm1387 1 989207 [C/G] NM_198576 AGRN EXON Missense_S1909T exm1388 1 989216 [T/C] NM_198576 AGRN EXON Missense_A1912V exm1389 1 989219 [T/C] NM_198576 AGRN EXON Missense_T1913M exm1690136 1 1021285 [T/G] NM_017891 C1orf159 EXON Missense_P140T exm1470 1 1021302 [T/C] NM_017891 C1orf159 EXON Missense_K134R exm1471 1 1021315 [A/C] NM_017891 C1orf159 EXON Missense_F130V exm1475 1 1021386 [A/G] NM_017891 C1orf159 EXON Missense_P106L exm1480 1 1022534 [T/C] NM_017891 C1orf159 EXON Missense_G99R exm1494 1 1025751 [T/C] NM_017891 C1orf159 EXON Missense_A44T exm1507 1 1026913 [T/C] NM_017891 C1orf159 EXON Missense_R4Q exm2263810 1 1062638 [A/C] exm1542 1 1114668 [A/G] NM_001130045 TTLL10 EXON Missense_G25S exm1550 1 1115461 [T/C] NM_001130045,NM_153254 TTLL10,TTLL10 EXON Missense_R83W,Missense_R10W exm1551 1 1115464 [T/C] NM_001130045,NM_153254 TTLL10,TTLL10 EXON Missense_C84R,Missense_C11R exm1553 1 1115503 [T/C] NM_001130045,NM_153254 TTLL10,TTLL10 EXON Missense_C97R,Missense_C24R exm1554 1 1115510 [T/C] NM_001130045,NM_153254 TTLL10,TTLL10 EXON Missense_P99L,Missense_P26L exm1556 1 1115548 [A/G] NM_001130045,NM_153254 TTLL10,TTLL10 EXON Missense_G112R,Missense_G39R exm1558 1 1115576 [A/G] NM_001130045,NM_153254 TTLL10,TTLL10 EXON Missense_R121Q,Missense_R48Q exm1560 1 1115602 [A/G] NM_001130045,NM_153254 TTLL10,TTLL10 EXON Missense_A130T,Missense_A57T exm1565 1 1115674 [T/C] NM_001130045,NM_153254 TTLL10,TTLL10 EXON Missense_R154W,Missense_R81W exm1571 1 1115954 [T/C] NM_001130045,NM_153254 TTLL10,TTLL10 EXON Nonsense_R200X,Nonsense_R127X exm1572 1 1115955 [A/G] NM_001130045,NM_153254 TTLL10,TTLL10 EXON Missense_R200Q,Missense_R127Q exm1580 1 1116182 [T/C] NM_001130045,NM_153254 TTLL10,TTLL10 EXON Missense_R233W,Missense_R160W exm1581 1 1116183 [A/G] NM_001130045,NM_153254 TTLL10,TTLL10 EXON Missense_R233Q,Missense_R160Q exm1582 1 1116188 [T/C] NM_001130045,NM_153254 TTLL10,TTLL10 EXON Missense_R235W,Missense_R162W exm1583 1 1116189 [A/G] NM_001130045,NM_153254 TTLL10,TTLL10 EXON Missense_R235Q,Missense_R162Q exm1584 1 1116195 [A/G] NM_001130045,NM_153254 TTLL10,TTLL10 EXON Missense_R237Q,Missense_R164Q exm1591 1 1117141 [T/C] NM_001130045,NM_153254 TTLL10,TTLL10 EXON Missense_A259V,Missense_A186V exm1592 1 1117159 [T/G] NM_001130045,NM_153254 TTLL10,TTLL10 EXON Missense_L265R,Missense_L192R exm1601 1 1117800 [A/G] NM_001130045,NM_153254 TTLL10,TTLL10 EXON Missense_R297K,Missense_R224K exm1609 1 1118330 [A/G] NM_001130045,NM_153254 TTLL10,TTLL10 EXON Missense_E331K,Missense_E258K exm1626 1 1119361 [A/G] NM_001130045,NM_153254 TTLL10,TTLL10 EXON Missense_I384V,Missense_I311V exm1631 1 1119410 [A/G] NM_001130045,NM_153254 TTLL10,TTLL10 EXON Missense_R400H,Missense_R327H exm1640 1 1120370 [G/C] NM_001130045,NM_153254 TTLL10,TTLL10 EXON Missense_L428V,Missense_L355V exm1641 1 1120377 [A/T] NM_001130045,NM_153254 TTLL10,TTLL10 EXON Missense_M430K,Missense_M357K exm1645 1 1120421 [T/C] NM_001130045,NM_153254 TTLL10,TTLL10 EXON Missense_R445C,Missense_R372C exm1646 1 1120431 [A/G] NM_001130045,NM_153254 TTLL10,TTLL10 EXON Missense_S448N,Missense_S375N exm1649 1 1120488 [A/C] NM_001130045,NM_153254 TTLL10,TTLL10 EXON Missense_K467T,Missense_K394T exm2249617 1 1120489 [A/G] NM_001130045,NM_153254 TTLL10,TTLL10 EXON Synonymous_K467K,Synonymous_K394K exm1651 1 1120494 [A/G] NM_001130045,NM_153254 TTLL10,TTLL10 EXON Silent,Missense_R396H exm1654 1 1120503 [A/G] NM_001130045,NM_153254 TTLL10,TTLL10 EXON Silent,Missense_C399Y exm1677 1 1139062 [A/G] NM_004195,NM_148902,NM_148901 TNFRSF18,TNFRSF18,TNFRSF18 EXON Silent,Silent,Missense_S226L exm1687 1 1139251 [G/C] NM_004195,NM_148902,NM_148901 TNFRSF18,TNFRSF18,TNFRSF18 EXON Missense_K233N,Missense_K226N,Missense_R163T exm1688 1 1139268 [A/G] NM_004195,NM_148902,NM_148901 TNFRSF18,TNFRSF18,TNFRSF18 EXON Nonsense_R228X,Nonsense_R221X,Synonymous_S157S exm1691 1 1139277 [A/G] NM_004195,NM_148902,NM_148901 TNFRSF18,TNFRSF18,TNFRSF18 EXON Missense_R225W,Missense_R218W,Synonymous_S154S exm1692 1 1139287 [A/G] NM_004195,NM_148902,NM_148901 TNFRSF18,TNFRSF18,TNFRSF18 EXON Synonymous_P221P,Synonymous_P214P,Missense_P151L exm1693 1 1139308 [A/G] NM_004195,NM_148902,NM_148901 TNFRSF18,TNFRSF18,TNFRSF18 EXON Synonymous_D214D,Synonymous_D207D,Missense_T144M exm1695 1 1139320 [T/C] NM_004195,NM_148902,NM_148901 TNFRSF18,TNFRSF18,TNFRSF18 EXON Synonymous_P210P,Synonymous_P203P,Missense_R140H exm1703 1 1139498 [T/C] NM_004195,NM_148902,NM_148901 TNFRSF18,TNFRSF18,TNFRSF18 EXON Missense_V173M,Missense_V173M,Silent exm1701740 1 1139603 [T/C] NM_004195,NM_148902,NM_148901 TNFRSF18,TNFRSF18,TNFRSF18 EXON Missense_G138R,Missense_G138R,Silent exm1726 1 1140855 [T/C] NM_004195,NM_148902,NM_148901 TNFRSF18,TNFRSF18,TNFRSF18 EXON Missense_E69K,Missense_E69K,Missense_E69K exm1730 1 1141765 [T/C] NM_004195,NM_148902,NM_148901 TNFRSF18,TNFRSF18,TNFRSF18 EXON Missense_G63S,Missense_G63S,Missense_G63S exm1732 1 1141776 [T/C] NM_004195,NM_148902,NM_148901 TNFRSF18,TNFRSF18,TNFRSF18 EXON Missense_R59H,Missense_R59H,Missense_R59H exm1761 1 1147337 [T/C] NM_003327 TNFRSF4 EXON Missense_V207M exm1769 1 1147462 [A/G] NM_003327 TNFRSF4 EXON Missense_I165T exm1771 1 1147486 [A/G] NM_003327 TNFRSF4 EXON Missense_P157L exm1782 1 1148449 [A/G] NM_003327 TNFRSF4 EXON Missense_L98P exm1789 1 1149105 [A/G] NM_003327 TNFRSF4 EXON Missense_P69L exm1790 1 1149109 [T/C] NM_003327 TNFRSF4 EXON Missense_G68R exm1808 1 1152917 [A/G] NM_016176,NM_016547 SDF4,SDF4 EXON Missense_A355V,Silent exm1812 1 1152971 [T/C] NM_016176,NM_016547 SDF4,SDF4 EXON Missense_E337G,Silent exm1822 1 1153047 [T/C] NM_016176,NM_016547 SDF4,SDF4 EXON Missense_E312K,Silent exm1702568 1 1153073 [A/G] NM_016176,NM_016547 SDF4,SDF4 EXON Silent,Missense_R342C exm1829 1 1153099 [A/G] NM_016176,NM_016547 SDF4,SDF4 EXON Silent,Missense_A333V exm1832 1 1153129 [T/C] NM_016176,NM_016547 SDF4,SDF4 EXON Silent,Missense_R323Q exm1839 1 1153858 [T/C] NM_016176,NM_016547 SDF4,SDF4 EXON Missense_V298M,Missense_V298M exm2230853 1 1154157 [T/C] NM_016176,NM_016547 SDF4,SDF4 EXON Missense_R243Q,Missense_R243Q exm1862 1 1158672 [T/C] NM_016176,NM_016547 SDF4,SDF4 EXON Missense_V177I,Missense_V177I exm1864 1 1159213 [A/G] NM_016176,NM_016547 SDF4,SDF4 EXON Synonymous_D154D,Synonymous_D154D exm1872 1 1163881 [T/C] NM_016176,NM_016547 SDF4,SDF4 EXON Missense_R98Q,Missense_R98Q exm1885 1 1164015 [A/C] NM_016176,NM_016547 SDF4,SDF4 EXON Missense_E53D,Missense_E53D exm1886 1 1164018 [G/C] NM_016176,NM_016547 SDF4,SDF4 EXON Missense_E52D,Missense_E52D exm1890 1 1164065 [A/G] NM_016176,NM_016547 SDF4,SDF4 EXON Missense_R37W,Missense_R37W exm1892 1 1164073 [A/G] NM_016176,NM_016547 SDF4,SDF4 EXON Missense_A34V,Missense_A34V exm1909 1 1168115 [A/C] NM_080605 B3GALT6 EXON Missense_L153I exm1924 1 1168511 [A/G] NM_080605 B3GALT6 EXON Missense_D285N exm1932 1 1177981 [T/C] NM_001014980 FAM132A EXON Missense_V286I exm1703904 1 1178280 [T/C] NM_001014980 FAM132A EXON Missense_V249I exm1949 1 1178442 [A/G] NM_001014980 FAM132A EXON Missense_T244M exm1952 1 1178482 [A/G] NM_001014980 FAM132A EXON Missense_C231R exm1965 1 1178848 [A/G] NM_001014980 FAM132A EXON Nonsense_Q206X exm1966 1 1178854 [T/C] NM_001014980 FAM132A EXON Missense_I204V exm1968 1 1178883 [A/G] NM_001014980 FAM132A EXON Missense_S194L exm1971 1 1178925 [A/G] NM_001014980 FAM132A EXON Missense_A180V exm1975 1 1179365 [T/C] NM_001014980 FAM132A EXON Missense_R167Q exm1987 1 1179619 [A/C] NM_001014980 FAM132A EXON Nonsense_E111X exm1989 1 1179637 [A/G] NM_001014980 FAM132A EXON Missense_P105S exm1992 1 1179762 [A/G] NM_001014980 FAM132A EXON Missense_P98L exm2001 1 1179816 [T/C] NM_001014980 FAM132A EXON Missense_R80Q exm2059 1 1216848 [A/G] NR_037668,NM_001130413 SCNN1D,SCNN1D EXON Silent,Synonymous_S45S exm2062 1 1219382 [C/G] NR_037668,NM_001130413 SCNN1D,SCNN1D EXON Silent,Missense_Q126E exm2063 1 1219401 [T/C] NR_037668,NM_001130413 SCNN1D,SCNN1D EXON Silent,Missense_P132L exm2067 1 1219456 [G/C] NR_037668,NM_001130413 SCNN1D,SCNN1D EXON Silent,Synonymous_G150G exm2070 1 1220954 [A/G] NR_037668,NM_001130413 SCNN1D,SCNN1D EXON Silent,Synonymous_S156S exm2081 1 1221459 [T/C] NR_037668,NM_001130413 SCNN1D,SCNN1D EXON Silent,Missense_R238C exm2090 1 1221530 [T/C] NR_037668,NM_001130413 SCNN1D,SCNN1D EXON Silent,Synonymous_V261V exm2093 1 1221564 [T/C] NR_037668,NM_001130413 SCNN1D,SCNN1D EXON Silent,Missense_R273C exm2097 1 1221613 [A/G] NR_037668,NM_001130413 SCNN1D,SCNN1D EXON Silent,Missense_R289H exm2100 1 1221657 [T/C] NR_037668,NM_001130413 SCNN1D,SCNN1D EXON Silent,Missense_R304W exm2105 1 1222218 [T/A] NR_037668,NM_001130413 SCNN1D,SCNN1D EXON Silent,Missense_N328Y exm2106 1 1222220 [T/C] NR_037668,NM_001130413 SCNN1D,SCNN1D EXON Silent,Synonymous_N328N exm2110 1 1222267 [G/C] NR_037668,NM_001130413 SCNN1D,SCNN1D EXON Silent,Missense_R344P exm2113 1 1222279 [G/C] NR_037668,NM_001130413 SCNN1D,SCNN1D EXON Silent,Missense_P348R exm2129 1 1222519 [T/C] NR_037668,NM_001130413 SCNN1D,SCNN1D EXON Silent,Nonsense_R384X exm2130 1 1222528 [A/T] NR_037668,NM_001130413 SCNN1D,SCNN1D EXON Silent,Missense_T387S exm2131 1 1222529 [T/C] NR_037668,NM_001130413 SCNN1D,SCNN1D EXON Silent,Missense_T387M exm2135 1 1222596 [T/C] NR_037668,NM_001130413 SCNN1D,SCNN1D EXON Silent,Synonymous_P409P exm2138 1 1222630 [A/G] NR_037668,NM_001130413 SCNN1D,SCNN1D EXON Silent,Missense_G421S exm2140 1 1222657 [A/G] NR_037668,NM_001130413 SCNN1D,SCNN1D EXON Silent,Missense_D430N exm2144 1 1222895 [T/C] NR_037668,NM_001130413 SCNN1D,SCNN1D EXON Silent,Missense_R440W exm2153 1 1222958 [T/C] NR_037668,NM_001130413 SCNN1D,SCNN1D EXON Silent,Missense_R461C exm2161 1 1223058 [A/G] NR_037668,NM_001130413 SCNN1D,SCNN1D EXON Silent,Missense_G469S exm2166 1 1223122 [A/G] NR_037668,NM_001130413 SCNN1D,SCNN1D EXON Silent,Missense_R490K exm2169 1 1223149 [T/C] NR_037668,NM_001130413 SCNN1D,SCNN1D EXON Silent,Missense_T499M exm2172 1 1223178 [A/G] NR_037668,NM_001130413 SCNN1D,SCNN1D EXON Silent,Missense_V509I exm2182 1 1223376 [G/C] NR_037668,NM_001130413 SCNN1D,SCNN1D EXON Silent,Missense_V541L exm2183 1 1223385 [G/C] NR_037668,NM_001130413 SCNN1D,SCNN1D EXON Silent,Missense_E544Q exm2195 1 1225753 [T/C] NR_037668,NM_001130413 SCNN1D,SCNN1D EXON Silent,Missense_R589W exm2206 1 1225899 [A/G] NR_037668,NM_001130413 SCNN1D,SCNN1D EXON Silent,Missense_R608Q exm2214 1 1226031 [A/G] NR_037668,NM_001130413 SCNN1D,SCNN1D EXON Silent,Missense_K625R exm2217 1 1226063 [A/G] NR_037668,NM_001130413 SCNN1D,SCNN1D EXON Silent,Missense_A636T exm2225 1 1226312 [T/C] NR_037668,NM_001130413 SCNN1D,SCNN1D EXON Silent,Missense_P652L exm2232 1 1226462 [T/G] NR_037668,NM_001130413 SCNN1D,SCNN1D EXON Silent,Missense_I665S exm2233 1 1226470 [A/G] NR_037668,NM_001130413 SCNN1D,SCNN1D EXON Silent,Missense_V668I exm2239 1 1226512 [A/G] NR_037668,NM_001130413 SCNN1D,SCNN1D EXON Silent,Missense_V682M exm2250 1 1226757 [A/G] NR_037668,NM_001130413 SCNN1D,SCNN1D EXON Silent,Missense_G726S exm2257 1 1226776 [T/C] NR_037668,NM_001130413 SCNN1D,SCNN1D EXON Silent,Missense_A732V exm2258 1 1226777 [A/G] NR_037668,NM_001130413 SCNN1D,SCNN1D EXON Silent,Synonymous_A732A exm2259 1 1226797 [C/G] NR_037668,NM_001130413 SCNN1D,SCNN1D EXON Silent,Missense_A739G exm2263 1 1226851 [T/C] NR_037668,NM_001130413 SCNN1D,SCNN1D EXON Silent,Missense_P757L exm2266 1 1226862 [A/G] NR_037668,NM_001130413 SCNN1D,SCNN1D EXON Silent,Missense_G761S exm2267 1 1226867 [A/G] NR_037668,NM_001130413 SCNN1D,SCNN1D EXON Silent,Synonymous_T762T exm2268 1 1226878 [T/C] NR_037668,NM_001130413 SCNN1D,SCNN1D EXON Silent,Missense_P766L exm2270 1 1226889 [A/G] NR_037668,NM_001130413 SCNN1D,SCNN1D EXON Silent,Missense_G770R exm2271 1 1226904 [T/C] NR_037668,NM_001130413 SCNN1D,SCNN1D EXON Silent,Missense_R775W exm2272 1 1226912 [A/G] NR_037668,NM_001130413 SCNN1D,SCNN1D EXON Silent,Missense_M777I exm2290 1 1229225 [T/C] NM_030649 ACAP3 EXON Missense_A780T exm2326 1 1231185 [A/G] NM_030649 ACAP3 EXON Missense_R546C exm2328 1 1231208 [T/C] NM_030649 ACAP3 EXON Missense_C538Y exm2330 1 1231245 [G/C] NM_030649 ACAP3 EXON Missense_A526P exm2334 1 1231280 [A/T] NM_030649 ACAP3 EXON Missense_E514V exm2363 1 1233288 [C/G] NM_030649 ACAP3 EXON Missense_E348Q exm2370 1 1233490 [T/C] NM_030649 ACAP3 EXON Missense_A307T exm2440 1 1238583 [A/G] NM_030649 ACAP3 EXON Missense_R62C exm2230959 1 1244644 [T/C] NM_153339 PUSL1 EXON Missense_P105L exm2468 1 1244646 [A/G] NM_153339 PUSL1 EXON Missense_A106T exm2497 1 1246013 [A/G] NM_153339 PUSL1 Silent exm1706581 1 1246018 [G/C] NM_153339 PUSL1 EXON Missense_L217V exm2498 1 1246022 [A/G] NM_153339 PUSL1 EXON Missense_R218Q exm2510 1 1246319 [A/G] NM_153339 PUSL1 EXON Missense_V244M exm2513 1 1246373 [A/G] NM_153339 PUSL1 EXON Missense_D262N exm2520 1 1246450 [T/C] NM_153339 PUSL1 EXON Synonymous_L287L exm2524 1 1246749 [A/G] NM_153339 PUSL1 EXON Missense_S301N exm2539 1 1247454 [T/C] NM_001256462,NM_001256463,NM_001256456,NM_001256460,NM_017871 CPSF3L,CPSF3L,CPSF3L,CPSF3L,CPSF3L EXON Missense_A463T,Missense_A460T,Missense_A567T,Missense_A532T,Missense_A561T exm2542 1 1247469 [T/C] NM_001256462,NM_001256463,NM_001256456,NM_001256460,NM_017871 CPSF3L,CPSF3L,CPSF3L,CPSF3L,CPSF3L EXON Missense_V458I,Missense_V455I,Missense_V562I,Missense_V527I,Missense_V556I exm2249776 1 1247626 [A/G] NM_001256462,NM_001256463,NM_001256456,NM_001256460,NM_017871 CPSF3L,CPSF3L,CPSF3L,CPSF3L,CPSF3L EXON Synonymous_R431R,Synonymous_R428R,Synonymous_R535R,Synonymous_R500R,Synonymous_R529R exm2556 1 1247736 [T/C] NM_001256462,NM_001256463,NM_001256456,NM_001256460,NM_017871 CPSF3L,CPSF3L,CPSF3L,CPSF3L,CPSF3L EXON Missense_V395M,Missense_V392M,Missense_V499M,Missense_V464M,Missense_V493M exm2562 1 1247820 [A/G] NM_001256462,NM_001256463,NM_001256456,NM_001256460,NM_017871 CPSF3L,CPSF3L,CPSF3L,CPSF3L,CPSF3L EXON Synonymous_S390S,Synonymous_S387S,Synonymous_S494S,Synonymous_S459S,Synonymous_S488S exm2249777 1 1247826 [T/C] NM_001256462,NM_001256463,NM_001256456,NM_001256460,NM_017871 CPSF3L,CPSF3L,CPSF3L,CPSF3L,CPSF3L EXON Synonymous_K388K,Synonymous_K385K,Synonymous_K492K,Synonymous_K457K,Synonymous_K486K exm2571 1 1248041 [A/G] NM_001256462,NM_001256463,NM_001256456,NM_001256460,NM_017871 CPSF3L,CPSF3L,CPSF3L,CPSF3L,CPSF3L EXON Missense_T347M,Missense_T344M,Missense_T451M,Missense_T416M,Missense_T445M exm2249779 1 1248046 [T/C] NM_001256462,NM_001256463,NM_001256456,NM_001256460,NM_017871 CPSF3L,CPSF3L,CPSF3L,CPSF3L,CPSF3L EXON Synonymous_T345T,Synonymous_T342T,Synonymous_T449T,Synonymous_T414T,Synonymous_T443T exm2589 1 1248323 [T/C] NM_001256462,NM_001256463,NM_001256456,NM_001256460,NM_017871 CPSF3L,CPSF3L,CPSF3L,CPSF3L,CPSF3L EXON Missense_V282I,Missense_V279I,Missense_V386I,Missense_V351I,Missense_V380I exm2590 1 1248329 [A/G] NM_001256462,NM_001256463,NM_001256456,NM_001256460,NM_017871 CPSF3L,CPSF3L,CPSF3L,CPSF3L,CPSF3L EXON Synonymous_L280L,Synonymous_L277L,Synonymous_L384L,Synonymous_L349L,Synonymous_L378L exm2624 1 1250209 [A/C] NM_001256462,NM_001256463,NM_001256456,NM_001256460,NM_017871 CPSF3L,CPSF3L,CPSF3L,CPSF3L,CPSF3L EXON Missense_G135W,Missense_G132W,Missense_G239W,Missense_G204W,Missense_G233W exm2230965 1 1250268 [G/C] NM_001256462,NM_001256463,NM_001256456,NM_001256460,NM_017871 CPSF3L,CPSF3L,CPSF3L,CPSF3L,CPSF3L EXON Missense_S115C,Missense_S112C,Missense_S219C,Missense_S184C,Missense_S213C exm2656 1 1254678 [A/G] NM_001256462,NM_001256463,NM_001256456,NM_001256460,NM_017871 CPSF3L,CPSF3L,CPSF3L,CPSF3L,CPSF3L EXON Silent,Silent,Nonsense_Q149X,Nonsense_Q114X,Nonsense_Q143X exm2249782 1 1254694 [A/G] NM_001256462,NM_001256463,NM_001256456,NM_001256460,NM_017871 CPSF3L,CPSF3L,CPSF3L,CPSF3L,CPSF3L EXON Silent,Silent,Synonymous_H143H,Synonymous_H108H,Synonymous_H137H exm2659 1 1254777 [T/C] NM_001256462,NM_001256463,NM_001256456,NM_001256460,NM_017871 CPSF3L,CPSF3L,CPSF3L,CPSF3L,CPSF3L EXON Silent,Silent,Missense_I116V,Missense_I81V,Missense_I110V exm2676 1 1256453 [A/G] NM_001256462,NM_001256463,NM_001256456,NM_001256460,NM_017871 CPSF3L,CPSF3L,CPSF3L,CPSF3L,CPSF3L EXON Silent,Nonsense_R17X,Nonsense_R23X,Silent,Nonsense_R17X exm2693 1 1262366 [A/G] NM_001029885 GLTPD1 EXON Missense_E26K exm2695 1 1262635 [A/T] NM_001029885 GLTPD1 EXON Missense_L46Q exm2697 1 1262695 [A/G] NM_001029885 GLTPD1 EXON Missense_R66H exm1706776 1 1262701 [A/G] NM_001029885 GLTPD1 EXON Missense_R68K exm2699 1 1262727 [A/C] NM_001029885 GLTPD1 EXON Missense_R77S exm2713 1 1262886 [A/G] NM_001029885 GLTPD1 EXON Missense_E130K exm2723 1 1262958 [A/G] NM_001029885 GLTPD1 EXON Missense_V154M exm2727 1 1262979 [A/G] NM_001029885 GLTPD1 EXON Missense_A161T exm2732 1 1263085 [A/G] NM_001029885 GLTPD1 EXON Missense_R196H exm2745 1 1266738 [A/G] NM_152228 TAS1R3 EXON Missense_A5T exm2755 1 1267040 [T/G] NM_152228 TAS1R3 EXON Missense_W72G exm2762 1 1267106 [T/C] NM_152228 TAS1R3 EXON Missense_R94C exm2770 1 1267202 [A/G] NM_152228 TAS1R3 EXON Missense_A126T exm2774 1 1267253 [A/G] NM_152228 TAS1R3 EXON Missense_G143R exm2777 1 1267286 [A/G] NM_152228 TAS1R3 EXON Missense_G154S exm2778 1 1267291 [G/C] NM_152228 TAS1R3 EXON Missense_K155N exm2784 1 1267483 [A/G] NM_152228 TAS1R3 EXON Missense_R191H exm2785 1 1267495 [T/C] NM_152228 TAS1R3 EXON Missense_T195M exm2794 1 1267559 [C/G] NM_152228 TAS1R3 EXON Missense_D216E exm2803 1 1267651 [A/G] NM_152228 TAS1R3 EXON Missense_R247H exm2821 1 1267870 [T/C] NM_152228 TAS1R3 EXON Missense_T320M exm2824 1 1267908 [A/G] NM_152228 TAS1R3 EXON Missense_E333K exm2829 1 1267953 [T/C] NM_152228 TAS1R3 EXON Missense_P348S exm2857 1 1268344 [T/A] NM_152228 TAS1R3 EXON Missense_L440Q exm2860 1 1268352 [T/C] NM_152228 TAS1R3 EXON Missense_R443W exm2861 1 1268362 [A/G] NM_152228 TAS1R3 EXON Missense_S446N exm2862 1 1268367 [A/G] NM_152228 TAS1R3 EXON Missense_G448R exm2864 1 1268373 [A/G] NM_152228 TAS1R3 EXON Missense_V450M exm2866 1 1268388 [A/G] NM_152228 TAS1R3 EXON Missense_D455N exm2870 1 1268457 [A/C] NM_152228 TAS1R3 EXON Missense_L478I exm2873 1 1268470 [A/G] NM_152228 TAS1R3 EXON Missense_R482H exm2874 1 1268482 [A/G] NM_152228 TAS1R3 EXON Missense_R486H exm2881 1 1268687 [T/C] NM_152228 TAS1R3 EXON Missense_R510W exm2882 1 1268688 [A/G] NM_152228 TAS1R3 EXON Missense_R510Q exm2883 1 1268701 [C/G] NM_152228 TAS1R3 EXON Missense_F514L exm2886 1 1268747 [T/C] NM_152228 TAS1R3 EXON Missense_R530W exm2889 1 1268894 [A/G] NM_152228 TAS1R3 EXON Missense_A537T exm2892 1 1268954 [T/C] NM_152228 TAS1R3 EXON Missense_R557C exm2928 1 1269329 [T/A] NM_152228 TAS1R3 EXON Missense_W682R exm2275408 1 1269432 [A/C] NM_152228 TAS1R3 EXON Missense_T716K exm2941 1 1269488 [A/G] NM_152228 TAS1R3 EXON Missense_A735T exm2942 1 1269503 [G/C] NM_152228 TAS1R3 EXON Missense_L740V exm2948 1 1269554 [T/C] NM_152228 TAS1R3 EXON Missense_C757R exm2273600 1 1269623 [C/G] NM_152228 TAS1R3 EXON Missense_P780A exm2959 1 1269741 [A/G] NM_152228 TAS1R3 EXON Missense_R819Q exm2984 1 1271808 [A/C] NM_004421 DVL1 EXON Missense_G576V exm2994 1 1273365 [T/C] NM_004421 DVL1 EXON Missense_Q544R exm3001 1 1273654 [G/C] NM_004421 DVL1 EXON Missense_C476S exm3055 1 1275659 [A/G] NM_004421 DVL1 EXON Missense_S246F exm3069 1 1275797 [G/C] NM_004421 DVL1 EXON Missense_A231G exm3070 1 1275804 [G/C] NM_004421 DVL1 EXON Missense_R229G exm3071 1 1275824 [T/C] NM_004421 DVL1 EXON Missense_R222Q exm3075 1 1275882 [A/G] NM_004421 DVL1 EXON Missense_L203F exm3076 1 1275883 [T/C] NM_004421 DVL1 EXON Synonymous_R202R exm3083 1 1277091 [G/C] NM_004421 DVL1 EXON Missense_E187D exm3090 1 1277119 [A/G] NM_004421 DVL1 EXON Missense_A178V exm3091 1 1277120 [T/C] NM_004421 DVL1 EXON Missense_A178T exm3098 1 1277183 [T/C] NM_004421 DVL1 EXON Missense_A157T exm1707125 1 1277184 [A/G] NM_004421 DVL1 EXON Synonymous_A156A exm3101 1 1277466 [A/G] NM_004421 DVL1 EXON Missense_R145W exm3111 1 1277833 [A/G] NM_004421 DVL1 EXON Missense_A91V exm3147 1 1289446 [T/C] NM_032348 MXRA8 EXON Missense_D396N exm3157 1 1289835 [T/C] NM_032348 MXRA8 EXON Missense_R335Q exm3158 1 1289863 [A/C] NM_032348 MXRA8 EXON Missense_V326F exm2230998 1 1290163 [A/T] NM_032348 MXRA8 EXON Missense_E283V exm3203 1 1309185 [T/C] NM_001127229,NM_017900,NM_001127230 AURKAIP1,AURKAIP1,AURKAIP1 EXON Missense_K199R,Missense_K199R,Missense_K199R exm3205 1 1309203 [T/C] NM_001127229,NM_017900,NM_001127230 AURKAIP1,AURKAIP1,AURKAIP1 EXON Missense_K193R,Missense_K193R,Missense_K193R exm3211 1 1309405 [T/C] NM_001127229,NM_017900,NM_001127230 AURKAIP1,AURKAIP1,AURKAIP1 EXON Missense_Q158R,Missense_Q158R,Missense_Q158R exm1707755 1 1309567 [A/G] NM_001127229,NM_017900,NM_001127230 AURKAIP1,AURKAIP1,AURKAIP1 EXON Missense_P104L,Missense_P104L,Missense_P104L exm3225 1 1309583 [A/G] NM_001127229,NM_017900,NM_001127230 AURKAIP1,AURKAIP1,AURKAIP1 EXON Nonsense_Q99X,Nonsense_Q99X,Nonsense_Q99X exm3243 1 1322654 [T/C] NM_030937 CCNL2 EXON Missense_R507H exm3246 1 1322667 [A/G] NM_030937 CCNL2 EXON Missense_R503C exm3250 1 1322735 [A/G] NM_030937 CCNL2 EXON Missense_P480L exm1707956 1 1322736 [A/G] NM_030937 CCNL2 EXON Missense_P480S exm3253 1 1322744 [A/G] NM_030937 CCNL2 EXON Missense_A477V exm3254 1 1322753 [T/C] NM_030937 CCNL2 EXON Missense_R474Q exm3255 1 1322754 [A/G] NM_030937 CCNL2 EXON Missense_R474W exm3257 1 1322765 [T/C] NM_030937 CCNL2 EXON Missense_R470Q exm3261 1 1322868 [T/C] NM_030937 CCNL2 EXON Missense_A436T exm3299 1 1330832 [A/G] NM_030937,NM_001039577 CCNL2,CCNL2 EXON Missense_A179V,Missense_A179V exm3307 1 1333713 [T/C] NM_030937,NM_001039577 CCNL2,CCNL2 EXON Missense_M125V,Missense_M125V exm3317 1 1334475 [G/C] NM_030937,NM_001039577 CCNL2,CCNL2 EXON Missense_T71S,Missense_T71S exm3320 1 1334519 [G/C] NM_030937,NM_001039577 CCNL2,CCNL2 EXON Missense_D56E,Missense_D56E exm3329 1 1337481 [T/G] NM_017971 MRPL20 EXON Missense_R144S exm3332 1 1337539 [T/A] NM_017971 MRPL20 EXON Missense_H125L exm3336 1 1341206 [T/C] NM_017971 MRPL20 EXON Missense_I87V exm3350 1 1354515 [C/G] NM_001145210,NM_001243535,NM_001243536 ANKRD65,ANKRD65,ANKRD65 EXON Missense_E389Q,Silent,Silent exm3352 1 1354538 [A/G] NM_001145210,NM_001243535,NM_001243536 ANKRD65,ANKRD65,ANKRD65 EXON Missense_A381V,Silent,Silent exm3367 1 1354844 [T/C] NM_001145210,NM_001243535,NM_001243536 ANKRD65,ANKRD65,ANKRD65 EXON Missense_R279Q,Missense_E99K,Silent exm3369 1 1354920 [A/C] NM_001145210,NM_001243535,NM_001243536 ANKRD65,ANKRD65,ANKRD65 EXON Missense_V254L,Missense_R73S,Silent exm3377 1 1356330 [C/G] NM_001145210,NM_001243535,NM_001243536 ANKRD65,ANKRD65,ANKRD65 EXON Missense_R19P,Missense_R19P,Missense_R19P exm3382 1 1361530 [T/C] NM_001146685 TMEM88B EXON Missense_T8M exm3388 1 1361736 [A/G] NM_001146685 TMEM88B EXON Missense_V77I exm3397 1 1372441 [T/G] NM_199121,NM_022834 VWA1,VWA1 EXON Silent,Missense_A70S exm3418 1 1372690 [T/C] NM_199121,NM_022834 VWA1,VWA1 EXON Silent,Missense_P153S exm3425 1 1372743 [T/C] NM_199121,NM_022834 VWA1,VWA1 EXON Missense_R39W,Synonymous_T170T exm3426 1 1372750 [A/G] NM_199121,NM_022834 VWA1,VWA1 EXON Missense_R41K,Missense_G173S exm3429 1 1372773 [T/C] NM_199121,NM_022834 VWA1,VWA1 EXON Missense_R49C,Synonymous_A180A exm3458 1 1386089 [T/C] NM_001039211 ATAD3C EXON Missense_A9V exm3468 1 1387747 [T/C] NM_001039211 ATAD3C EXON Missense_A52V exm1709164 1 1391192 [T/C] NM_001039211 ATAD3C EXON Missense_R154C exm3489 1 1391208 [T/C] NM_001039211 ATAD3C EXON Missense_M159T exm3507 1 1396132 [T/G] NM_001039211 ATAD3C EXON Missense_F272C exm3511 1 1396197 [A/G] NM_001039211 ATAD3C EXON Missense_V294M exm3518 1 1396296 [T/C] NM_001039211 ATAD3C EXON Missense_R327W exm3521 1 1398008 [A/G] NM_001039211 ATAD3C EXON Missense_G337R exm3522 1 1398032 [C/G] NM_001039211 ATAD3C EXON Missense_R345G exm3532 1 1403788 [A/G] NM_001039211 ATAD3C EXON Missense_G372R exm3533 1 1403800 [A/G] NM_001039211 ATAD3C EXON Missense_E376K exm1709263 1 1403821 [A/G] NM_001039211 ATAD3C EXON Missense_V383M exm3556 1 1412659 [T/G] NM_031921 ATAD3B EXON Missense_A71S exm3630 1 1421538 [A/G] NM_031921 ATAD3B EXON Missense_T338A exm3652 1 1423256 [A/G] NM_031921 ATAD3B EXON Missense_M410V exm2249844 1 1425658 [T/C] NM_031921 ATAD3B EXON Synonymous_S453S exm2275409 1 1425719 [A/G] NM_031921 ATAD3B EXON Missense_D474N exm3678 1 1425726 [T/C] NM_031921 ATAD3B EXON Missense_P476L exm3680 1 1425753 [T/C] NM_031921 ATAD3B EXON Missense_V485A exm3706 1 1430968 [A/T] NM_031921 ATAD3B EXON Missense_K573M exm3707 1 1430971 [T/C] NM_031921 ATAD3B EXON Missense_A574V exm3709 1 1430985 [T/C] NM_031921 ATAD3B EXON Missense_R579C exm2249851 1 1430993 [T/C] NM_031921 ATAD3B EXON Synonymous_V581V exm3716 1 1431048 [A/G] NM_031921 ATAD3B EXON Missense_T600A exm3718 1 1431060 [T/C] NM_031921 ATAD3B EXON Missense_Y604H exm3719 1 1431066 [T/C] NM_031921 ATAD3B EXON Missense_C606R exm3724 1 1431109 [A/G] NM_031921 ATAD3B EXON Missense_G620E exm3726 1 1431159 [A/G] NM_031921 ATAD3B EXON Missense_G637S exm3727 1 1431163 [A/G] NM_031921 ATAD3B EXON Missense_R638Q exm3743 1 1451415 [C/G] NM_001170535,NM_018188,NM_001170536 ATAD3A,ATAD3A,ATAD3A EXON Missense_L77V,Missense_L77V,Silent exm3851 1 1460671 [T/C] NM_001170535,NM_018188,NM_001170536 ATAD3A,ATAD3A,ATAD3A EXON Synonymous_T422T,Synonymous_T470T,Synonymous_T343T exm3861 1 1463118 [T/C] NM_001170535,NM_018188,NM_001170536 ATAD3A,ATAD3A,ATAD3A EXON Missense_W461R,Missense_W509R,Missense_W382R exm3862 1 1463119 [T/G] NM_001170535,NM_018188,NM_001170536 ATAD3A,ATAD3A,ATAD3A EXON Missense_W461L,Missense_W509L,Missense_W382L exm3863 1 1463157 [G/C] NM_001170535,NM_018188,NM_001170536 ATAD3A,ATAD3A,ATAD3A EXON Missense_D474H,Missense_D522H,Missense_D395H exm2231095 1 1469372 [T/G] NM_001170535,NM_018188,NM_001170536 ATAD3A,ATAD3A,ATAD3A EXON Missense_A561S,Missense_A609S,Missense_A482S exm3879 1 1469384 [T/C] NM_001170535,NM_018188,NM_001170536 ATAD3A,ATAD3A,ATAD3A EXON Missense_H565Y,Missense_H613Y,Missense_H486Y exm3884 1 1469412 [T/C] NM_001170535,NM_018188,NM_001170536 ATAD3A,ATAD3A,ATAD3A EXON Missense_A574V,Missense_A622V,Missense_A495V exm3889 1 1469427 [A/G] NM_001170535,NM_018188,NM_001170536 ATAD3A,ATAD3A,ATAD3A EXON Missense_R579H,Missense_R627H,Missense_R500H exm3904 1 1470807 [T/C] NM_001114748 TMEM240 EXON Missense_A152T exm3908 1 1471017 [T/C] NM_001114748 TMEM240 EXON Missense_G109S exm3923 1 1477537 [A/G] NM_014188 SSU72 EXON Missense_T165M exm3957 1 1550992 [A/C] NM_001170687,NM_080875,NM_001170688,NM_001170686,NR_033183 MIB2,MIB2,MIB2,MIB2,MIB2 EXON Nonsense_C51X,Nonsense_C51X,Nonsense_C51X,Nonsense_C51X,Silent exm3962 1 1551927 [T/C] NM_001170687,NM_080875,NM_001170688,NM_001170686,NR_033183,NM_001170689 MIB2,MIB2,MIB2,MIB2,MIB2,MIB2 EXON Missense_F72L,Missense_F72L,Missense_F72L,Missense_F72L,Silent,Silent exm3966 1 1551952 [A/G] NM_001170687,NM_080875,NM_001170688,NM_001170686,NR_033183,NM_001170689 MIB2,MIB2,MIB2,MIB2,MIB2,MIB2 EXON Missense_R80K,Missense_R80K,Missense_R80K,Missense_R80K,Silent,Silent exm3970 1 1558782 [T/C] NM_001170687,NM_080875,NM_001170688,NM_001170686,NR_033183,NM_001170689 MIB2,MIB2,MIB2,MIB2,MIB2,MIB2 EXON Silent,Missense_R99W,Missense_R99W,Missense_R99W,Silent,Silent exm3973 1 1558792 [T/C] NM_001170687,NM_080875,NM_001170688,NM_001170686,NR_033183,NM_001170689 MIB2,MIB2,MIB2,MIB2,MIB2,MIB2 EXON Silent,Missense_M102T,Missense_M102T,Missense_M102T,Silent,Silent exm4002 1 1559297 [A/G] NM_001170687,NM_080875,NM_001170688,NM_001170686,NR_033183,NM_001170689 MIB2,MIB2,MIB2,MIB2,MIB2,MIB2 EXON Missense_D232N,Missense_D246N,Missense_D246N,Missense_D246N,Silent,Missense_D131N exm4035 1 1560966 [A/G] NM_001170687,NM_080875,NM_001170688,NM_001170686,NR_033183,NM_001170689 MIB2,MIB2,MIB2,MIB2,MIB2,MIB2 EXON Missense_R403H,Missense_R417H,Missense_R352H,Missense_R413H,Silent,Missense_R237H exm4046 1 1562091 [A/G] NM_001170687,NM_080875,NM_001170688,NM_001170686,NR_033183,NM_001170689 MIB2,MIB2,MIB2,MIB2,MIB2,MIB2 EXON Missense_R446Q,Missense_R460Q,Missense_R395Q,Missense_R456Q,Silent,Missense_R280Q exm4067 1 1562576 [T/C] NM_001170687,NM_080875,NM_001170688,NM_001170686,NR_033183,NM_001170689 MIB2,MIB2,MIB2,MIB2,MIB2,MIB2 EXON Missense_R556C,Missense_R570C,Missense_R505C,Missense_R566C,Silent,Missense_R390C exm2250001 1 1562786 [T/C] NM_001170687,NM_080875,NM_001170688,NM_001170686,NR_033183,NM_001170689 MIB2,MIB2,MIB2,MIB2,MIB2,MIB2 EXON Synonymous_D596D,Synonymous_D610D,Synonymous_D545D,Synonymous_D606D,Silent,Synonymous_D430D exm4087 1 1563100 [T/C] NM_001170687,NM_080875,NM_001170688,NM_001170686,NR_033183,NM_001170689 MIB2,MIB2,MIB2,MIB2,MIB2,MIB2 EXON Missense_A625V,Missense_A639V,Missense_A574V,Missense_A635V,Silent,Missense_A459V exm4089 1 1563105 [A/G] NM_001170687,NM_080875,NM_001170688,NM_001170686,NR_033183,NM_001170689 MIB2,MIB2,MIB2,MIB2,MIB2,MIB2 EXON Missense_A627T,Missense_A641T,Missense_A576T,Missense_A637T,Silent,Missense_A461T exm4090 1 1563109 [T/C] NM_001170687,NM_080875,NM_001170688,NM_001170686,NR_033183,NM_001170689 MIB2,MIB2,MIB2,MIB2,MIB2,MIB2 EXON Missense_I628T,Missense_I642T,Missense_I577T,Missense_I638T,Silent,Missense_I462T exm4091 1 1563121 [A/G] NM_001170687,NM_080875,NM_001170688,NM_001170686,NR_033183,NM_001170689 MIB2,MIB2,MIB2,MIB2,MIB2,MIB2 EXON Missense_Q632R,Missense_Q646R,Missense_Q581R,Missense_Q642R,Silent,Missense_Q466R exm4093 1 1563171 [C/G] NM_001170687,NM_080875,NM_001170688,NM_001170686,NR_033183,NM_001170689 MIB2,MIB2,MIB2,MIB2,MIB2,MIB2 EXON Missense_R649G,Missense_R663G,Missense_R598G,Missense_R659G,Silent,Missense_R483G exm4107 1 1563492 [A/G] NM_001170687,NM_080875,NM_001170688,NM_001170686,NR_033183,NM_001170689 MIB2,MIB2,MIB2,MIB2,MIB2,MIB2 EXON Missense_D693N,Missense_D707N,Missense_D642N,Missense_D703N,Silent,Missense_D527N exm4117 1 1563691 [T/G] NM_001170687,NM_080875,NM_001170688,NM_001170686,NR_033183,NM_001170689 MIB2,MIB2,MIB2,MIB2,MIB2,MIB2 EXON Missense_V728G,Missense_V742G,Missense_V677G,Missense_V738G,Silent,Missense_V562G exm4119 1 1563707 [C/G] NM_001170687,NM_080875,NM_001170688,NM_001170686,NR_033183,NM_001170689 MIB2,MIB2,MIB2,MIB2,MIB2,MIB2 EXON Missense_E733D,Missense_E747D,Missense_E682D,Missense_E743D,Silent,Missense_E567D exm4134 1 1564064 [A/G] NM_001170687,NM_080875,NM_001170688,NM_001170686,NR_033183,NM_001170689 MIB2,MIB2,MIB2,MIB2,MIB2,MIB2 EXON Missense_A823T,Missense_A837T,Missense_A772T,Missense_A833T,Silent,Missense_A657T exm4160 1 1565032 [A/G] NM_001170687,NM_080875,NM_001170688,NM_001170686,NR_033183,NM_001170689 MIB2,MIB2,MIB2,MIB2,MIB2,MIB2 EXON Synonymous_R960R,Synonymous_R974R,Synonymous_R909R,Synonymous_R970R,Silent,Missense_D734N exm4171 1 1565891 [A/G] NM_001170687,NM_080875,NM_001170688,NM_001170686,NR_033183,NM_001170689 MIB2,MIB2,MIB2,MIB2,MIB2,MIB2 EXON Missense_R1051H,Missense_R1065H,Missense_R1000H,Missense_R1061H,Silent,Silent exm2250017 1 1572310 [T/C] NM_033493,NM_033492,NM_033487,NM_033486,NM_033489,NM_033488 CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,CDK11B EXON Synonymous_P570P,Synonymous_P579P,Synonymous_P327P,Synonymous_P581P,Synonymous_P547P,Synonymous_P536P exm4276 1 1597351 [T/C] NM_033493,NM_033492,NM_033487,NM_033486,NM_033489,NM_033488,NM_001110781 CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,SLC35E2B EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_G363E exm4281 1 1597403 [T/C] NM_033493,NM_033492,NM_033487,NM_033486,NM_033489,NM_033488,NM_001110781 CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,SLC35E2B EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_G346S exm4292 1 1601104 [A/G] NM_033493,NM_033492,NM_033487,NM_033486,NM_033489,NM_033488,NM_001110781 CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,SLC35E2B EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_T278M exm4294 1 1601170 [A/G] NM_033493,NM_033492,NM_033487,NM_033486,NM_033489,NM_033488,NM_001110781 CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,SLC35E2B EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_P256L exm4297 1 1603011 [A/G] NM_033493,NM_033492,NM_033487,NM_033486,NM_033489,NM_033488,NM_001110781 CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,SLC35E2B EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_A215V exm2264793 1 1611995 [A/G] NM_033493,NM_033492,NM_033487,NM_033486,NM_033489,NM_033488,NM_001110781 CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,SLC35E2B Silent,Silent,Silent,Silent,Silent,Silent,Silent exm4399 1 1650787 [T/C] NM_033493,NM_033492,NM_033487,NM_033486,NM_033489,NM_033488,NM_033529,NM_024011 CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,CDK11A,CDK11A EXON Silent,Silent,Silent,Missense_H112R,Missense_H78R,Silent,Silent,Missense_H112R exm4428 1 1663944 [A/G] NM_001199787,NM_182838 SLC35E2,SLC35E2 EXON Silent,Nonsense_R251X exm2268858 1 1664124 [T/C] NM_001199787,NM_182838 SLC35E2,SLC35E2 Silent,Silent exm4494 1 1686024 [T/C] NM_001198993,NM_001198994,NM_023018,NM_001198995 NADK,NADK,NADK,NADK EXON Missense_G268S,Missense_G413S,Missense_G268S,Missense_G236S exm4499 1 1686063 [T/C] NM_001198993,NM_001198994,NM_023018,NM_001198995 NADK,NADK,NADK,NADK EXON Missense_V255M,Missense_V400M,Missense_V255M,Missense_V223M exm4503 1 1686081 [A/G] NM_001198993,NM_001198994,NM_023018,NM_001198995 NADK,NADK,NADK,NADK EXON Missense_R249W,Missense_R394W,Missense_R249W,Missense_R217W exm4504 1 1686087 [C/G] NM_001198993,NM_001198994,NM_023018,NM_001198995 NADK,NADK,NADK,NADK EXON Missense_E247Q,Missense_E392Q,Missense_E247Q,Missense_E215Q exm4505 1 1686116 [T/C] NM_001198993,NM_001198994,NM_023018,NM_001198995 NADK,NADK,NADK,NADK EXON Missense_R237Q,Missense_R382Q,Missense_R237Q,Missense_R205Q exm4520 1 1688005 [A/G] NM_001198993,NM_001198994,NM_023018,NM_001198995 NADK,NADK,NADK,NADK EXON Missense_P146S,Missense_P291S,Missense_P146S,Missense_P114S exm4521 1 1688096 [T/C] NM_001198993,NM_001198994,NM_023018,NM_001198995 NADK,NADK,NADK,NADK EXON Silent,Synonymous_P260P,Silent,Silent exm4526 1 1688550 [T/C] NM_001198993,NM_001198994,NM_023018,NM_001198995 NADK,NADK,NADK,NADK EXON Silent,Missense_A259T,Silent,Silent exm1733478 1 1688579 [A/C] NM_001198993,NM_001198994,NM_023018,NM_001198995 NADK,NADK,NADK,NADK EXON Silent,Missense_G249V,Silent,Silent exm4527 1 1688694 [T/C] NM_001198993,NM_001198994,NM_023018,NM_001198995 NADK,NADK,NADK,NADK EXON Missense_V107I,Missense_V211I,Missense_V107I,Missense_V75I exm4538 1 1690544 [T/C] NM_001198993,NM_001198994,NM_023018 NADK,NADK,NADK EXON Silent,Missense_T191A,Silent exm4543 1 1690621 [A/G] NM_001198993,NM_001198994,NM_023018 NADK,NADK,NADK EXON Silent,Missense_P165L,Silent exm4548 1 1691176 [T/G] NM_001198993,NM_001198994,NM_023018 NADK,NADK,NADK EXON Silent,Missense_E143D,Silent exm4550 1 1691199 [T/C] NM_001198993,NM_001198994,NM_023018 NADK,NADK,NADK EXON Silent,Missense_G136S,Silent exm4570 1 1696761 [T/C] NM_001198993,NM_001198994,NM_023018 NADK,NADK,NADK EXON Missense_D29N,Missense_D29N,Missense_D29N exm2250243 1 1720670 [A/G] NM_002074 GNB1 EXON Synonymous_D246D exm4614 1 1756864 [T/C] NM_002074 GNB1 EXON Missense_E10G exm4638 1 1847886 [T/C] NM_138705 CALML6 EXON Missense_R29C exm4640 1 1847940 [A/G] NM_138705 CALML6 EXON Missense_E47K exm4644 1 1847968 [T/G] NM_138705 CALML6 EXON Missense_G56V exm4645 1 1847979 [T/C] NM_138705 CALML6 EXON Missense_W60R exm4647 1 1847994 [G/C] NM_138705 CALML6 EXON Missense_L65V exm4656 1 1848197 [C/G] NM_138705 CALML6 EXON Missense_G87A exm1741176 1 1848231 [A/G] NM_138705 CALML6 EXON Missense_M98I exm4660 1 1848287 [A/G] NM_138705 CALML6 EXON Missense_R117H exm4673 1 1848601 [T/C] NM_138705 CALML6 EXON Missense_M172T exm4691 1 1849530 [T/C] NM_178545 TMEM52 EXON Missense_M141V exm4696 1 1849727 [A/C] NM_178545 TMEM52 EXON Missense_M105R exm1741224 1 1849792 [G/C] NM_178545 TMEM52 EXON Missense_K83N exm4806 1 1887019 [A/G] NM_001080484 KIAA1751 EXON Missense_X763Q exm4808 1 1887049 [T/C] NM_001080484 KIAA1751 EXON Missense_R753G exm4809 1 1887055 [T/C] NM_001080484 KIAA1751 EXON Missense_G751R exm4847 1 1887195 [T/G] NM_001080484 KIAA1751 EXON Missense_A704E exm4861 1 1888057 [A/G] NM_001080484 KIAA1751 Silent exm4863 1 1888115 [A/G] NM_001080484 KIAA1751 EXON Missense_F654L exm4869 1 1888168 [A/G] NM_001080484 KIAA1751 EXON Missense_T636M exm4871 1 1888193 [A/C] NM_001080484 KIAA1751 EXON Missense_G628C exm4882 1 1890559 [T/C] NM_001080484 KIAA1751 EXON Synonymous_S617S exm4889 1 1891441 [T/C] NM_001080484 KIAA1751 EXON Missense_G575R exm4907 1 1895269 [A/G] NM_001080484 KIAA1751 EXON Missense_T538M exm4914 1 1896346 [A/G] NM_001080484 KIAA1751 EXON Missense_P519L exm4915 1 1896379 [T/C] NM_001080484 KIAA1751 EXON Missense_R508H exm4922 1 1896433 [T/C] NM_001080484 KIAA1751 EXON Missense_R490H exm4926 1 1896466 [T/C] NM_001080484 KIAA1751 EXON Missense_G479D exm4928 1 1896494 [T/C] NM_001080484 KIAA1751 EXON Missense_K470E exm4931 1 1897822 [T/G] NM_001080484 KIAA1751 EXON Nonsense_Y463X exm4932 1 1897832 [T/C] NM_001080484 KIAA1751 EXON Missense_N460S exm4936 1 1897889 [G/C] NM_001080484 KIAA1751 EXON Missense_P441R exm4945 1 1900102 [A/G] NM_001080484 KIAA1751 EXON Missense_T406I exm4948 1 1900156 [T/C] NM_001080484 KIAA1751 EXON Missense_R388Q exm4951 1 1900186 [T/C] NM_001080484 KIAA1751 EXON Missense_K378R exm4955 1 1900211 [T/C] NM_001080484 KIAA1751 EXON Missense_E370K exm4957 1 1900232 [T/C] NM_001080484 KIAA1751 EXON Missense_I363V exm4965 1 1902129 [A/G] NM_001080484 KIAA1751 EXON Missense_R339C exm4966 1 1902133 [G/C] NM_001080484 KIAA1751 EXON Missense_H337Q exm4973 1 1902206 [A/G] NM_001080484 KIAA1751 EXON Missense_A313V exm4974 1 1902225 [A/G] NM_001080484 KIAA1751 EXON Missense_R307C exm4977 1 1902246 [A/G] NM_001080484 KIAA1751 EXON Missense_R300W exm4981 1 1903426 [A/G] NM_001080484 KIAA1751 EXON Missense_A294V exm4984 1 1903469 [A/G] NM_001080484 KIAA1751 EXON Nonsense_R280X exm4988 1 1904401 [A/G] NM_001080484 KIAA1751 EXON Missense_R254W exm4989 1 1904413 [T/C] NM_001080484 KIAA1751 EXON Missense_K250E exm4990 1 1904424 [T/C] NM_001080484 KIAA1751 EXON Missense_R246Q exm4998 1 1905467 [A/G] NM_001080484 KIAA1751 EXON Missense_I224T exm5005 1 1905526 [A/C] NM_001080484 KIAA1751 EXON Missense_E204D exm5009 1 1905557 [G/C] NM_001080484 KIAA1751 EXON Missense_T194R exm5043 1 1916904 [T/C] NM_001080484 KIAA1751 EXON Missense_V141M exm5049 1 1918445 [T/C] NM_001080484 KIAA1751 EXON Missense_R109Q exm5052 1 1918475 [G/C] NM_001080484 KIAA1751 Silent exm5057 1 1920015 [A/G] NM_001080484 KIAA1751 EXON Missense_R78W exm2250439 1 1956414 [T/C] NM_000815 GABRD EXON Synonymous_S34S exm1744492 1 1959595 [T/C] NM_000815 GABRD EXON Synonymous_Y185Y exm5098 1 1959617 [A/G] NM_000815 GABRD EXON Missense_V193I exm5099 1 1959698 [T/C] NM_000815 GABRD EXON Missense_R220C exm1744497 1 1959730 [T/C] NM_000815 GABRD EXON Synonymous_S230S exm5105 1 1960588 [T/C] NM_000815 GABRD EXON Missense_R244W exm5108 1 1960633 [A/G] NM_000815 GABRD EXON Missense_V259I exm5130 1 1961512 [T/C] NM_000815 GABRD EXON Missense_P384S exm5141 1 1961672 [T/C] NM_000815 GABRD EXON Missense_A437V exm5157 1 1986954 [A/G] NM_002744 PRKCZ EXON Missense_R49H exm-rs425277 1 2069172 [T/C] NM_002744,NM_001033581,NM_001242874,NM_001033582 PRKCZ,PRKCZ,PRKCZ,PRKCZ Silent,Silent,Silent,Silent exm-rs3753242 1 2069681 [T/C] NM_002744,NM_001033581,NM_001242874,NM_001033582 PRKCZ,PRKCZ,PRKCZ,PRKCZ Silent,Silent,Silent,Silent exm5179 1 2075653 [T/C] NM_002744,NM_001033581,NM_001242874,NM_001033582 PRKCZ,PRKCZ,PRKCZ,PRKCZ EXON Missense_A142V,Silent,Missense_A38V,Silent exm5180 1 2075672 [G/C] NM_002744,NM_001033581,NM_001242874,NM_001033582 PRKCZ,PRKCZ,PRKCZ,PRKCZ EXON Missense_S148R,Silent,Missense_S44R,Silent exm5184 1 2075740 [A/G] NM_002744,NM_001033581,NM_001242874,NM_001033582 PRKCZ,PRKCZ,PRKCZ,PRKCZ EXON Missense_R171H,Silent,Missense_R67H,Silent exm1748820 1 2075748 [A/G] NM_002744,NM_001033581,NM_001242874,NM_001033582 PRKCZ,PRKCZ,PRKCZ,PRKCZ EXON Missense_G174S,Silent,Missense_G70S,Silent exm5190 1 2077520 [A/G] NM_002744,NM_001033581,NM_001242874,NM_001033582 PRKCZ,PRKCZ,PRKCZ,PRKCZ EXON Missense_D203N,Missense_D20N,Missense_D99N,Missense_D20N exm5240 1 2106723 [A/G] NM_002744,NM_001033581,NM_001242874,NM_001033582 PRKCZ,PRKCZ,PRKCZ,PRKCZ EXON Missense_A516T,Missense_A333T,Missense_A412T,Missense_A333T exm5242 1 2106747 [A/G] NM_002744,NM_001033581,NM_001242874,NM_001033582 PRKCZ,PRKCZ,PRKCZ,PRKCZ EXON Missense_D524N,Missense_D341N,Missense_D420N,Missense_D341N exm5277 1 2125086 [G/C] NR_046426,NM_001146310,NR_046425,NM_001256945,NR_046424,NM_001256947,NR_046427,NM_182533,NM_001256946 C1orf86,C1orf86,C1orf86,C1orf86,C1orf86,C1orf86,C1orf86,C1orf86,C1orf86 EXON Silent,Missense_S150W,Silent,Missense_S109W,Silent,Missense_S109W,Silent,Missense_F154L,Missense_F154L exm5285 1 2125205 [A/C] NR_046426,NM_001146310,NR_046425,NM_001256945,NR_046424,NM_001256947,NR_046427,NM_182533,NM_001256946 C1orf86,C1orf86,C1orf86,C1orf86,C1orf86,C1orf86,C1orf86,C1orf86,C1orf86 EXON Silent,Synonymous_P110P,Silent,Synonymous_P69P,Silent,Synonymous_P69P,Silent,Missense_A115S,Missense_A115S exm5287 1 2125275 [T/C] NR_046426,NM_001146310,NR_046425,NM_001256945,NR_046424,NM_001256947,NR_046427,NM_182533,NM_001256946 C1orf86,C1orf86,C1orf86,C1orf86,C1orf86,C1orf86,C1orf86,C1orf86,C1orf86 EXON Silent,Missense_R87H,Silent,Missense_R46H,Silent,Missense_R46H,Silent,Synonymous_P91P,Synonymous_P91P exm5301 1 2125543 [A/G] NR_046426,NM_001146310,NR_046425,NM_001256945,NR_046424,NM_001256947,NR_046427,NM_182533,NM_001256946 C1orf86,C1orf86,C1orf86,C1orf86,C1orf86,C1orf86,C1orf86,C1orf86,C1orf86 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_L31P,Missense_L31P exm5304 1 2129458 [T/G] NM_001146310,NR_046424 C1orf86,C1orf86 EXON Missense_T58K,Silent exm5306 1 2129498 [A/G] NM_001146310,NR_046424 C1orf86,C1orf86 EXON Missense_P45S,Silent exm5336 1 2160845 [A/G] NM_003036 SKI EXON Missense_S214G exm5368 1 2234791 [T/C] NM_003036 SKI EXON Missense_A388V exm5373 1 2234824 [T/C] NM_003036 SKI EXON Missense_A399V exm5387 1 2235451 [G/C] NM_003036 SKI EXON Missense_P462A exm2232575 1 2235963 [T/C] NM_003036 SKI EXON Missense_M569T exm1764513 1 2252827 [A/G] NM_024848 MORN1 EXON Missense_R497W exm5434 1 2252937 [T/C] NM_024848 MORN1 EXON Missense_R460Q exm5435 1 2252967 [T/C] NM_024848 MORN1 EXON Missense_R450H exm5436 1 2252970 [T/C] NM_024848 MORN1 EXON Missense_G449E exm2232597 1 2252973 [A/G] NM_024848 MORN1 EXON Missense_L448P exm5439 1 2253010 [T/C] NM_024848 MORN1 EXON Missense_V436M exm5445 1 2255569 [T/C] NM_024848 MORN1 EXON Missense_A422T exm5454 1 2267935 [A/G] NM_024848 MORN1 EXON Missense_T408M exm5460 1 2268156 [G/C] NM_024848 MORN1 EXON Missense_K390N exm1765180 1 2268280 [T/C] NM_024848 MORN1 EXON Missense_H349R exm5476 1 2288949 [T/C] NM_024848 MORN1 EXON Missense_V320M exm1766442 1 2289030 [T/C] NM_024848 MORN1 EXON Missense_E293K exm5481 1 2290034 [A/G] NM_024848 MORN1 EXON Missense_P289L exm5488 1 2290143 [A/G] NM_024848 MORN1 EXON Missense_R253W exm5493 1 2304000 [T/G] NM_024848 MORN1 EXON Missense_P222Q exm5497 1 2305918 [T/C] NM_024848 MORN1 EXON Missense_I206V exm5498 1 2305932 [T/G] NM_024848 MORN1 EXON Missense_Y201S exm5500 1 2305965 [A/C] NM_024848 MORN1 EXON Missense_L190R exm5515 1 2316485 [T/C] NM_024848 MORN1 EXON Missense_G157S exm2232754 1 2316488 [T/C] NM_024848 MORN1 EXON Missense_D156N exm5521 1 2317268 [T/C] NM_024848 MORN1 EXON Missense_G143S exm5537 1 2319711 [T/C] NM_024848 MORN1 EXON Missense_T72A exm5542 1 2319738 [T/C] NM_024848 MORN1 EXON Missense_E63K exm2268641 1 2327815 [T/C] NM_007033 RER1 Silent exm5583 1 2337219 [A/G] NM_002617,NM_153818 PEX10,PEX10 EXON Missense_R323W,Missense_R343W exm5594 1 2338015 [T/C] NM_002617,NM_153818 PEX10,PEX10 EXON Missense_T274A,Missense_T294A exm5596 1 2338023 [A/G] NM_002617,NM_153818 PEX10,PEX10 EXON Missense_P271L,Missense_P291L exm5606 1 2338223 [C/G] NM_002617,NM_153818 PEX10,PEX10 EXON Missense_G238R,Missense_G258R exm5612 1 2338313 [T/C] NM_002617,NM_153818 PEX10,PEX10 EXON Missense_G208R,Missense_G228R exm5616 1 2338361 [T/C] NM_002617,NM_153818 PEX10,PEX10 EXON Silent,Missense_M212V exm5618 1 2339908 [A/G] NM_002617,NM_153818 PEX10,PEX10 EXON Missense_L195F,Missense_L195F exm5631 1 2340159 [A/G] NM_002617,NM_153818 PEX10,PEX10 EXON Missense_L111P,Missense_L111P exm5658 1 2408058 [T/C] NM_014638 PLCH2 EXON Missense_R11W exm5673 1 2411245 [A/G] NM_014638 PLCH2 EXON Missense_S115N exm5674 1 2411250 [A/G] NM_014638 PLCH2 EXON Missense_D117N exm5682 1 2411376 [A/G] NM_014638 PLCH2 EXON Missense_D159N exm5684 1 2411636 [T/C] NM_014638 PLCH2 EXON Missense_T177M exm5691 1 2415891 [T/C] NM_014638 PLCH2 EXON Missense_A217V exm5697 1 2415977 [G/C] NM_014638 PLCH2 EXON Missense_L246V exm5703 1 2418414 [C/G] NM_014638 PLCH2 EXON Missense_K295N exm2250942 1 2420787 [T/A] NM_014638 PLCH2 EXON Synonymous_P459P exm5742 1 2426313 [A/G] NM_014638 PLCH2 EXON Missense_V560M exm2232890 1 2428054 [T/G] NM_014638 PLCH2 EXON Missense_R615L exm5835 1 2435556 [A/G] NM_014638 PLCH2 EXON Missense_R1052Q exm5841 1 2435738 [A/G] NM_014638 PLCH2 EXON Missense_A1113T exm2277033 1 2435759 [T/G] NM_014638 PLCH2 EXON Missense_V1120L exm1771279 1 2435759 [A/G] NM_014638 PLCH2 EXON Missense_V1120M exm5844 1 2435768 [A/G] NM_014638 PLCH2 EXON Missense_D1123N exm5861 1 2436024 [A/C] NM_014638 PLCH2 EXON Missense_A1208D exm2250954 1 2440415 [A/G] NM_018216 PANK4 EXON Synonymous_H731H exm5910 1 2440415 [A/G] NM_018216 PANK4 EXON Synonymous_H731H exm5918 1 2441358 [T/C] NM_018216 PANK4 EXON Missense_Q684R exm5932 1 2443106 [A/G] NM_018216 PANK4 EXON Missense_P582S exm5956 1 2445838 [T/C] NM_018216 PANK4 EXON Missense_R481Q exm5974 1 2447128 [T/C] NM_018216 PANK4 EXON Missense_E416G exm5982 1 2449629 [T/G] NM_018216 PANK4 EXON Missense_P398T exm6004 1 2451257 [G/C] NM_018216 PANK4 EXON Missense_S279W exm6013 1 2451846 [A/G] NM_018216 PANK4 EXON Missense_T205M exm6017 1 2452248 [T/C] NM_018216 PANK4 EXON Missense_D174N exm2277034 1 2452744 [T/C] NM_018216 PANK4 EXON Missense_R73H exm6031 1 2452750 [A/G] NM_018216 PANK4 EXON Missense_T71I exm6036 1 2453162 [T/C] NM_018216 PANK4 EXON Missense_G68R exm6051 1 2458010 [G/C] NM_018216 PANK4 EXON Missense_A6G exm2250972 1 2461316 [T/C] NM_001010926 HES5 EXON Synonymous_E63E exm6077 1 2488153 [A/G] NR_037844,NM_003820 LOC100133445,TNFRSF14 EXON Silent,Missense_K17R exm6103 1 2491306 [A/G] NM_003820 TNFRSF14 EXON Missense_A117T exm6115 1 2491400 [T/A] NM_003820 TNFRSF14 EXON Missense_Q148L exm6121 1 2492123 [A/G] NM_003820 TNFRSF14 EXON Missense_G174E exm6129 1 2493158 [T/C] NM_003820 TNFRSF14 EXON Missense_H200Y exm6141 1 2494330 [A/G] NM_003820 TNFRSF14 EXON Missense_V241I exm-rs734999 1 2513216 [T/C] exm6165 1 2518683 [T/C] NR_036638,NR_036637,NM_001195740,NM_001195741,NM_152371,NM_001195736,NM_001195737,NM_001195738 FAM213B,FAM213B,FAM213B,FAM213B,FAM213B,FAM213B,FAM213B,FAM213B EXON Silent,Silent,Missense_P103S,Missense_P103S,Missense_P103S,Missense_P103S,Missense_P103S,Missense_P103S exm6173 1 2519975 [A/C] NR_036638,NR_036637,NM_001195740,NM_001195741,NM_152371,NM_001195736,NM_001195737,NM_001195738 FAM213B,FAM213B,FAM213B,FAM213B,FAM213B,FAM213B,FAM213B,FAM213B EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_P161T,Silent exm6175 1 2519989 [T/G] NR_036638,NR_036637,NM_001195740,NM_001195741,NM_152371,NM_001195736,NM_001195737,NM_001195738 FAM213B,FAM213B,FAM213B,FAM213B,FAM213B,FAM213B,FAM213B,FAM213B EXON Silent,Silent,Silent,Silent,Missense_A159S,Missense_A177S,Missense_R165S,Missense_A159S exm6185 1 2520428 [A/C] NR_036638,NR_036637,NM_001195740,NM_001195741,NM_152371,NM_001195736,NM_001195737,NM_001195738 FAM213B,FAM213B,FAM213B,FAM213B,FAM213B,FAM213B,FAM213B,FAM213B EXON Silent,Silent,Synonymous_I170I,Synonymous_I169I,Synonymous_I206I,Synonymous_I224I,Synonymous_I202I,Missense_P196T exm6198 1 2522473 [A/G] NR_036638,NR_036637,NM_001195740,NM_001195741,NM_152371,NM_001195736,NM_001195737,NM_001195738,NM_033467 FAM213B,FAM213B,FAM213B,FAM213B,FAM213B,FAM213B,FAM213B,FAM213B,MMEL1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_R766W exm6209 1 2523015 [A/G] NM_033467 MMEL1 EXON Missense_H741Y exm6212 1 2523053 [T/C] NM_033467 MMEL1 EXON Missense_R728Q exm6216 1 2523412 [T/C] NM_033467 MMEL1 EXON Missense_D708N exm6217 1 2523418 [T/C] NM_033467 MMEL1 EXON Missense_G706S exm6219 1 2523431 [T/G] NM_033467 MMEL1 EXON Missense_D701E exm6220 1 2524105 [T/G] NM_033467 MMEL1 EXON Missense_Q686K exm6222 1 2524107 [T/C] NM_033467 MMEL1 EXON Missense_R685Q exm6224 1 2524128 [A/G] NM_033467 MMEL1 EXON Missense_I678T exm6231 1 2524295 [A/G] NM_033467 MMEL1 EXON Missense_W660R exm6234 1 2524402 [T/C] NM_033467 MMEL1 EXON Missense_R624Q exm6237 1 2525259 [T/C] NM_033467 MMEL1 EXON Missense_D621N exm6243 1 2525332 [A/C] NM_033467 MMEL1 EXON Missense_K596N exm6253 1 2526245 [T/A] NM_033467 MMEL1 EXON Nonsense_K558X exm6264 1 2526746 [A/G] NM_033467 MMEL1 EXON Missense_M518T exm6296 1 2530169 [T/G] NM_033467 MMEL1 EXON Missense_P368T exm6301 1 2535397 [C/G] NM_033467 MMEL1 EXON Missense_E323Q exm6305 1 2535632 [T/C] NM_033467 MMEL1 EXON Missense_Q302R exm6307 1 2535648 [C/G] NM_033467 MMEL1 EXON Missense_D297H exm6311 1 2535717 [A/G] NM_033467 MMEL1 EXON Missense_R274W exm6317 1 2537041 [T/G] NM_033467 MMEL1 EXON Missense_M258L exm6320 1 2537700 [T/C] NM_033467 MMEL1 EXON Missense_R246Q exm6322 1 2537748 [T/C] NM_033467 MMEL1 EXON Missense_R230H exm6325 1 2537787 [T/C] NM_033467 MMEL1 EXON Missense_E217G exm2268642 1 2539006 [T/C] NM_033467 MMEL1 Silent exm6336 1 2540795 [T/C] NM_033467 MMEL1 EXON Missense_R173H exm6340 1 2541133 [T/C] NM_033467 MMEL1 EXON Missense_D144N exm6343 1 2541189 [T/C] NM_033467 MMEL1 EXON Missense_R125Q exm6347 1 2541237 [A/G] NM_033467 MMEL1 EXON Missense_T109M exm6350 1 2541268 [T/C] NM_033467 MMEL1 EXON Missense_A99T exm6351 1 2541269 [A/G] NM_033467 MMEL1 EXON Synonymous_A98A exm6352 1 2542778 [T/C] NM_033467 MMEL1 EXON Synonymous_G78G exm-rs3890745 1 2553624 [T/C] NM_033467 MMEL1 Silent exm6361 1 2560808 [A/G] NM_033467 MMEL1 EXON Missense_A39V exm6362 1 2560818 [T/C] NM_033467 MMEL1 EXON Missense_V36M exm2268859 1 2806107 [T/G] exm6380 1 2938266 [A/G] NM_080431 ACTRT2 EXON Missense_A6T exm6385 1 2938395 [A/G] NM_080431 ACTRT2 EXON Missense_A49T exm6394 1 2938506 [A/G] NM_080431 ACTRT2 EXON Missense_V86M exm6395 1 2938507 [T/C] NM_080431 ACTRT2 EXON Missense_V86A exm6413 1 2938800 [A/G] NM_080431 ACTRT2 EXON Missense_V184M exm6419 1 2938887 [A/G] NM_080431 ACTRT2 EXON Missense_V213M exm6421 1 2938924 [T/G] NM_080431 ACTRT2 EXON Missense_L225W exm6428 1 2938989 [A/G] NM_080431 ACTRT2 EXON Missense_G247R exm6439 1 2939260 [A/G] NM_080431 ACTRT2 EXON Missense_R337Q exm-rs2651899 1 3083712 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent exm6451 1 3102751 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 EXON Missense_A34T,Missense_A34T exm2260168 1 3111669 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent exm-rs6658356 1 3280253 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent exm2263811 1 3297799 [A/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent exm2233195 1 3319384 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 EXON Missense_D236N,Missense_D236N exm6506 1 3321352 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 EXON Missense_D312N,Missense_D312N exm6524 1 3327949 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 EXON Synonymous_C396C,Synonymous_C396C exm6534 1 3328187 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 EXON Missense_P476S,Missense_P476S exm1794873 1 3328298 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 EXON Missense_G513S,Missense_G513S exm2233200 1 3328327 [T/G] NM_022114,NM_199454 PRDM16,PRDM16 EXON Missense_L522F,Missense_L522F exm6548 1 3328358 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 EXON Missense_S533P,Missense_S533P exm6556 1 3328445 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 EXON Missense_V562I,Missense_V562I exm6558 1 3328467 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 EXON Missense_T569M,Missense_T569M exm6561 1 3328487 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 EXON Missense_E576K,Missense_E576K exm6563 1 3328555 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 EXON Missense_M598I,Missense_M598I exm6570 1 3328593 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 EXON Missense_T611M,Missense_T611M exm6573 1 3328623 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 EXON Missense_T621M,Missense_T621M exm6574 1 3328643 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 EXON Missense_D628N,Missense_D628N exm6576 1 3328659 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 EXON Missense_P633L,Missense_P633L exm6589 1 3328887 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 EXON Missense_M709T,Missense_M709T exm6593 1 3328948 [C/G] NM_022114,NM_199454 PRDM16,PRDM16 EXON Missense_F729L,Missense_F729L exm6603 1 3329042 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 EXON Missense_A761T,Missense_A761T exm6605 1 3329051 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 EXON Missense_V764M,Missense_V764M exm6607 1 3329057 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 EXON Missense_G766S,Missense_G766S exm6628 1 3331183 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 EXON Missense_R888Q,Missense_R888Q exm6629 1 3331186 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 EXON Missense_P889L,Missense_P889L exm2251405 1 3331193 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 EXON Synonymous_P891P,Synonymous_P891P exm6635 1 3334441 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 EXON Missense_M914T,Missense_M914T exm6665 1 3342635 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 EXON Missense_L1044F,Missense_L1044F exm6666 1 3342659 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 EXON Missense_A1052T,Missense_A1052T exm2233206 1 3342726 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 EXON Missense_S1074L,Missense_S1074L exm6674 1 3342788 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 EXON Missense_R1095W,Missense_R1095W exm6686 1 3347578 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 EXON Missense_V1143M,Missense_V1143M exm6695 1 3348552 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 EXON Missense_G1182S,Missense_G1182S exm6699 1 3348629 [A/T] NM_022114,NM_199454 PRDM16,PRDM16 EXON Missense_E1207D,Missense_E1207D exm6722 1 3380057 [A/G] NM_014448 ARHGEF16 EXON Missense_V137M exm6750 1 3389703 [A/G] NM_014448 ARHGEF16 EXON Missense_I362V exm6752 1 3389718 [T/G] NM_014448 ARHGEF16 EXON Missense_A367S exm6755 1 3389757 [A/G] NM_014448 ARHGEF16 EXON Missense_N380D exm6767 1 3391324 [A/G] NM_014448 ARHGEF16 EXON Missense_R453H exm6771 1 3392574 [A/G] NM_014448 ARHGEF16 EXON Missense_R474H exm6782 1 3394533 [A/G] NM_014448 ARHGEF16 EXON Missense_R523Q exm6784 1 3394541 [T/A] NM_014448 ARHGEF16 EXON Missense_C526S exm6790 1 3395002 [T/C] NM_014448 ARHGEF16 EXON Missense_M547T exm6792 1 3395016 [A/G] NM_014448 ARHGEF16 EXON Missense_A552T exm6793 1 3395020 [A/G] NM_014448 ARHGEF16 EXON Missense_Q553R exm6804 1 3395171 [A/C] NM_014448 ARHGEF16 EXON Missense_D603E exm6806 1 3395176 [T/C] NM_014448 ARHGEF16 EXON Missense_A605V exm2273605 1 3396420 [A/G] NM_014448 ARHGEF16 EXON Missense_A645T exm6818 1 3396465 [T/C] NM_014448 ARHGEF16 EXON Nonsense_Q660X exm6824 1 3397062 [A/G] NM_014448 ARHGEF16 EXON Missense_E681K exm6833 1 3407112 [T/C] NM_001409 MEGF6 EXON Missense_G1536S exm2233224 1 3409214 [A/G] NM_001409 MEGF6 EXON Missense_T1502M exm6842 1 3409272 [T/C] NM_001409 MEGF6 EXON Missense_A1483T exm6847 1 3410410 [T/C] NM_001409 MEGF6 EXON Missense_G1438R exm6852 1 3410644 [A/G] NM_001409 MEGF6 EXON Missense_W1392R exm6858 1 3410935 [A/G] NM_001409 MEGF6 EXON Missense_P1377S exm2251433 1 3410942 [A/G] NM_001409 MEGF6 EXON Synonymous_C1374C exm6861 1 3410973 [T/C] NM_001409 MEGF6 EXON Missense_R1364H exm6862 1 3410980 [T/G] NM_001409 MEGF6 EXON Missense_T1362P exm6871 1 3411048 [T/C] NM_001409 MEGF6 EXON Missense_R1339H exm1796453 1 3412483 [A/G] NM_001409 MEGF6 EXON Missense_P1281L exm1796454 1 3412567 [T/C] NM_001409 MEGF6 EXON Missense_R1253H exm6888 1 3413233 [A/G] NM_001409 MEGF6 EXON Missense_T1243M exm1796486 1 3413684 [A/C] NM_001409 MEGF6 Silent exm1796505 1 3413902 [T/C] NM_001409 MEGF6 EXON Missense_E1126K exm6926 1 3415357 [T/C] NM_001409 MEGF6 EXON Missense_R1043Q exm2251438 1 3415712 [A/G] NM_001409 MEGF6 EXON Synonymous_S1028S exm6936 1 3416173 [A/G] NM_001409 MEGF6 EXON Missense_R982W exm6940 1 3416227 [T/C] NM_001409 MEGF6 EXON Missense_A964T exm6947 1 3416449 [A/C] NM_001409 MEGF6 EXON Missense_R916L exm6953 1 3417211 [A/G] NM_001409 MEGF6 EXON Missense_P898L exm6954 1 3417218 [T/C] NM_001409 MEGF6 EXON Missense_V896M exm6956 1 3417275 [T/C] NM_001409 MEGF6 EXON Missense_A877T exm6959 1 3417545 [A/G] NM_001409 MEGF6 EXON Missense_F854L exm6963 1 3417622 [A/G] NM_001409 MEGF6 EXON Missense_T828I exm6965 1 3417742 [A/G] NM_001409 MEGF6 EXON Synonymous_D815D exm6966 1 3417747 [A/G] NM_001409 MEGF6 EXON Nonsense_Q814X exm6967 1 3417762 [T/C] NM_001409 MEGF6 EXON Missense_V809I exm6978 1 3418399 [A/G] NM_001409 MEGF6 EXON Missense_R759W exm6986 1 3418462 [T/C] NM_001409 MEGF6 EXON Missense_V738M exm6998 1 3421897 [A/G] NM_001409 MEGF6 EXON Missense_L688P exm7018 1 3424379 [T/C] NM_001409 MEGF6 EXON Missense_S590N exm7020 1 3424388 [A/G] NM_001409 MEGF6 EXON Missense_P587L exm7025 1 3424419 [T/C] NM_001409 MEGF6 EXON Missense_D577N exm7035 1 3425238 [A/G] NM_001409 MEGF6 EXON Missense_S515F exm7042 1 3425722 [A/G] NM_001409 MEGF6 EXON Missense_P482L exm7049 1 3425797 [A/G] NM_001409 MEGF6 EXON Missense_P457L exm7055 1 3426533 [A/G] NM_001409 MEGF6 EXON Missense_R420C exm7076 1 3428144 [T/C] NM_001409 MEGF6 EXON Missense_E362K exm7090 1 3428591 [T/C] NM_001409 MEGF6 EXON Missense_A319T exm7101 1 3431134 [A/G] NM_001409 MEGF6 EXON Missense_A278V exm7102 1 3431138 [A/C] NM_001409 MEGF6 EXON Missense_A277S exm7104 1 3431168 [A/G] NM_001409 MEGF6 EXON Missense_R267C exm7112 1 3431235 [A/C] NM_001409 MEGF6 EXON Synonymous_R244R exm7117 1 3432025 [T/C] NM_001409 MEGF6 EXON Missense_R224Q exm7118 1 3432044 [T/C] NM_001409 MEGF6 EXON Missense_V218I exm7121 1 3432077 [T/C] NM_001409 MEGF6 EXON Missense_A207T exm7124 1 3440718 [A/G] NM_001409 MEGF6 EXON Missense_R192W exm7127 1 3440753 [A/G] NM_001409 MEGF6 EXON Missense_P180L exm7130 1 3440795 [A/C] NM_001409 MEGF6 EXON Missense_R166L exm7131 1 3440796 [A/G] NM_001409 MEGF6 EXON Nonsense_R166X exm7145 1 3496479 [T/C] NM_001409 MEGF6 EXON Missense_S131G exm7149 1 3511934 [A/G] NM_001409 MEGF6 EXON Missense_M115T exm7155 1 3511994 [T/C] NM_001409 MEGF6 EXON Missense_G95D exm7185 1 3542306 [A/G] NM_182752 TPRG1L EXON Missense_R108Q exm7186 1 3542312 [T/G] NM_182752 TPRG1L EXON Missense_V110G exm7204 1 3544991 [G/C] NM_182752 TPRG1L EXON Missense_L215V exm7205 1 3545054 [A/G] NM_182752 TPRG1L EXON Missense_V236M exm7240 1 3548110 [T/C] NM_017818 WRAP73 EXON Missense_R387Q exm7242 1 3548122 [A/G] NM_017818 WRAP73 EXON Missense_P383L exm7249 1 3548198 [T/C] NM_017818 WRAP73 EXON Missense_V358I exm7253 1 3548832 [G/C] NM_017818 WRAP73 EXON Missense_I331M exm7274 1 3551592 [G/C] NM_017818 WRAP73 EXON Missense_G262A exm7276 1 3551605 [T/G] NM_017818 WRAP73 EXON Missense_I258L exm7281 1 3551737 [T/C] NM_017818 WRAP73 EXON Missense_S242N exm1798684 1 3551783 [T/C] NM_017818 WRAP73 EXON Missense_K227E exm7323 1 3564105 [T/C] NM_017818 WRAP73 EXON Missense_R30Q exm7380 1 3644322 [A/G] NM_005427,NM_001204184,NM_001204185,NM_001204186,NM_001204187,NM_001204188,NM_001126240,NM_001204189,NM_001126241,NM_001126242,NM_001204190,NM_001204191,NM_001204192 TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73 EXON Missense_A325T,Missense_A325T,Missense_A325T,Missense_A325T,Missense_A325T,Missense_A325T,Missense_A276T,Missense_A276T,Missense_A276T,Missense_A276T,Missense_A276T,Missense_A276T,Missense_A254T exm7399 1 3645901 [A/G] NM_005427,NM_001204184,NM_001204185,NM_001204186,NM_001204187,NM_001204188,NM_001126240,NM_001204189,NM_001126241,NM_001126242,NM_001204190,NM_001204191,NM_001204192 TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73 EXON Missense_R362Q,Missense_R362Q,Missense_R362Q,Missense_R362Q,Missense_R362Q,Missense_R362Q,Missense_R313Q,Missense_R313Q,Missense_R313Q,Missense_R313Q,Missense_R313Q,Missense_R313Q,Missense_R291Q exm7419 1 3648066 [T/C] NM_005427,NM_001204184,NM_001204185,NM_001204186,NM_001204187,NM_001204188,NM_001126240,NM_001204189,NM_001126241,NM_001126242,NM_001204190,NM_001204191,NM_001204192 TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73 EXON Synonymous_Y508Y,Silent,Missense_F459L,Silent,Silent,Synonymous_Y412Y,Synonymous_Y459Y,Silent,Silent,Missense_F410L,Silent,Synonymous_Y363Y,Synonymous_Y437Y exm1799309 1 3649503 [T/C] NM_005427,NM_001204184,NM_001204185,NM_001204186,NM_001204187,NM_001204188,NM_001126240,NM_001204189,NM_001126241,NM_001126242,NM_001204190,NM_001204191,NM_001204192 TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73 EXON Missense_R591C,Silent,Silent,Silent,Missense_R510C,Missense_R495C,Missense_R542C,Silent,Silent,Silent,Missense_R461C,Missense_R446C,Missense_R520C exm7442 1 3649542 [A/G] NM_005427,NM_001204184,NM_001204185,NM_001204186,NM_001204187,NM_001204188,NM_001126240,NM_001204189,NM_001126241,NM_001126242,NM_001204190,NM_001204191,NM_001204192 TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73 EXON Missense_G604S,Silent,Silent,Silent,Missense_G523S,Missense_G508S,Missense_G555S,Silent,Silent,Silent,Missense_G474S,Missense_G459S,Missense_G533S exm7447 1 3649608 [A/G] NM_005427,NM_001204184,NM_001204185,NM_001204186,NM_001204187,NM_001204188,NM_001126240,NM_001204189,NM_001126241,NM_001126242,NM_001204190,NM_001204191,NM_001204192 TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73 EXON Missense_I626V,Silent,Silent,Silent,Missense_I545V,Missense_I530V,Missense_I577V,Silent,Silent,Silent,Missense_I496V,Missense_I481V,Missense_I555V exm7483 1 3669100 [T/C] NM_152492 CCDC27 EXON Missense_R19W exm7485 1 3669106 [A/G] NM_152492 CCDC27 EXON Missense_K21E exm7490 1 3669205 [C/G] NM_152492 CCDC27 EXON Missense_Q54E exm2233284 1 3669271 [T/C] NM_152492 CCDC27 EXON Missense_R76W exm7497 1 3669281 [A/G] NM_152492 CCDC27 EXON Missense_R79Q exm7501 1 3669329 [T/C] NM_152492 CCDC27 EXON Missense_S95L exm7504 1 3669356 [A/G] NM_152492 CCDC27 EXON Missense_R104K exm7506 1 3669362 [T/C] NM_152492 CCDC27 EXON Missense_T106M exm7509 1 3670691 [A/G] NM_152492 CCDC27 EXON Missense_K110E exm7512 1 3670712 [A/G] NM_152492 CCDC27 EXON Missense_G117S exm7520 1 3672032 [T/G] NM_152492 CCDC27 EXON Nonsense_E152X exm7522 1 3672048 [A/G] NM_152492 CCDC27 EXON Missense_G157E exm7529 1 3672108 [A/G] NM_152492 CCDC27 EXON Missense_R177Q exm2251521 1 3677854 [T/C] NM_152492 CCDC27 EXON Synonymous_L241L exm7551 1 3677933 [T/C] NM_152492 CCDC27 EXON Missense_M267T exm7554 1 3677983 [T/C] NM_152492 CCDC27 EXON Missense_P284S exm7560 1 3679203 [T/C] NM_152492 CCDC27 EXON Missense_S294L exm2251522 1 3679252 [A/G] NM_152492 CCDC27 EXON Synonymous_E310E exm7567 1 3679694 [T/C] NM_152492 CCDC27 EXON Missense_P326L exm7574 1 3679775 [T/C] NM_152492 CCDC27 EXON Missense_T353M exm7575 1 3679783 [T/C] NM_152492 CCDC27 EXON Missense_W356R exm7582 1 3679925 [T/C] NM_152492 CCDC27 EXON Missense_L403P exm7586 1 3679934 [T/C] NM_152492 CCDC27 EXON Missense_S406L exm7593 1 3680279 [T/C] NM_152492 CCDC27 EXON Missense_A444V exm7596 1 3680333 [T/C] NM_152492 CCDC27 EXON Missense_T462M exm7598 1 3680345 [T/C] NM_152492 CCDC27 EXON Missense_T466M exm7600 1 3680362 [T/C] NM_152492 CCDC27 EXON Nonsense_R472X exm7601 1 3680368 [T/C] NM_152492 CCDC27 EXON Missense_R474W exm7602 1 3680369 [A/G] NM_152492 CCDC27 EXON Missense_R474Q exm7603 1 3680377 [G/C] NM_152492 CCDC27 EXON Missense_Q477E exm7604 1 3680383 [A/C] NM_152492 CCDC27 EXON Missense_Q479K exm7610 1 3683137 [C/G] NM_152492 CCDC27 EXON Missense_M497I exm7611 1 3683159 [A/C] NM_152492 CCDC27 EXON Missense_N505H exm7617 1 3683914 [T/A] NM_152492 CCDC27 EXON Missense_W550R exm7623 1 3684005 [A/C] NM_152492 CCDC27 EXON Missense_S580Y exm2273606 1 3686350 [A/G] NM_152492 CCDC27 EXON Missense_E583K exm7635 1 3688053 [T/G] NM_152492 CCDC27 EXON Missense_L646R exm1799627 1 3688073 [A/G] NM_152492 CCDC27 EXON Missense_G653R exm7645 1 3697669 [C/G] NM_020710 LRRC47 EXON Missense_V579L exm7647 1 3697675 [G/C] NM_020710 LRRC47 EXON Missense_P577A exm7668 1 3700579 [A/T] NM_020710 LRRC47 EXON Missense_S431C exm7684 1 3703430 [A/G] NM_020710 LRRC47 EXON Missense_R354C exm7692 1 3703589 [T/C] NM_020710 LRRC47 EXON Missense_V301M exm7703 1 3703715 [A/G] NM_020710 LRRC47 EXON Missense_R259C exm7735 1 3712899 [T/G] NM_020710 LRRC47 EXON Missense_T48P exm7758 1 3732862 [A/C] NM_014704 CEP104 EXON Missense_A882S exm7759 1 3732885 [T/C] NM_014704 CEP104 EXON Missense_R874H exm7762 1 3739740 [T/C] NM_014704 CEP104 EXON Missense_E857K exm1800028 1 3739745 [T/C] NM_014704 CEP104 EXON Missense_G855E exm7767 1 3740068 [T/C] NM_014704 CEP104 EXON Missense_G808E exm1800032 1 3740089 [A/G] NM_014704 CEP104 EXON Missense_T801M exm7776 1 3742955 [A/G] NM_014704 CEP104 EXON Missense_P745L exm7783 1 3743278 [T/C] NM_014704 CEP104 EXON Missense_N728D exm7791 1 3745924 [A/G] NM_014704 CEP104 EXON Missense_A686V exm7796 1 3746432 [A/G] NM_014704 CEP104 EXON Missense_R656C exm7800 1 3746504 [T/C] NM_014704 CEP104 EXON Missense_I632V exm7813 1 3747626 [A/G] NM_014704 CEP104 EXON Missense_I607T exm7818 1 3750449 [T/C] NM_014704 CEP104 EXON Missense_V546I exm7821 1 3750491 [T/C] NM_014704 CEP104 EXON Missense_V532I exm7833 1 3751634 [A/G] NM_014704 CEP104 EXON Missense_T447M exm7840 1 3753079 [T/C] NM_014704 CEP104 EXON Missense_D433N exm7844 1 3753136 [A/T] NM_014704 CEP104 EXON Missense_L414I exm7845 1 3753150 [T/C] NM_014704 CEP104 EXON Missense_R409Q exm7846 1 3753157 [T/C] NM_014704 CEP104 EXON Missense_D407N exm7848 1 3753207 [T/C] NM_014704 CEP104 EXON Missense_H390R exm7850 1 3753856 [A/G] NM_014704 CEP104 EXON Synonymous_N373N exm7856 1 3753972 [A/G] NM_014704 CEP104 EXON Nonsense_Q335X exm7859 1 3754043 [T/C] NM_014704 CEP104 EXON Missense_R311H exm7874 1 3756242 [T/C] NM_014704 CEP104 EXON Missense_R222Q exm7875 1 3756243 [A/G] NM_014704 CEP104 EXON Missense_R222W exm7876 1 3756281 [T/C] NM_014704 CEP104 EXON Missense_E209G exm7877 1 3756295 [T/C] NM_014704 CEP104 EXON Missense_M204I exm7891 1 3761485 [T/A] NM_014704 CEP104 EXON Missense_E184D exm7892 1 3761487 [G/C] NM_014704 CEP104 EXON Missense_E184Q exm7894 1 3761547 [A/C] NM_014704 CEP104 EXON Missense_A164S exm7898 1 3764049 [A/G] NM_014704 CEP104 EXON Missense_I139T exm7900 1 3764134 [A/G] NM_014704 CEP104 EXON Missense_R111W exm7901 1 3764173 [T/C] NM_014704 CEP104 EXON Missense_V98M exm7905 1 3765181 [T/C] NM_014704 CEP104 EXON Missense_R93Q exm7906 1 3765187 [T/C] NM_014704 CEP104 EXON Missense_R91Q exm7907 1 3765188 [A/G] NM_014704 CEP104 EXON Missense_R91W exm2251546 1 3765282 [T/C] NM_014704 CEP104 EXON Synonymous_L59L exm7915 1 3768920 [T/C] NM_014704 CEP104 EXON Missense_G18S exm7929 1 3775337 [T/A] NM_004402 DFFB EXON Missense_E57V exm7930 1 3775348 [T/C] NM_004402 DFFB EXON Missense_P61S exm7949 1 3782525 [A/G] NM_004402 DFFB EXON Missense_A131T exm7983 1 3789061 [T/C] NM_004402 DFFB EXON Missense_L236S exm7984 1 3789087 [A/G] NM_004402 DFFB EXON Missense_S245G exm2233302 1 3800118 [A/G] NM_004402 DFFB EXON Missense_K277R exm1800702 1 3800276 [T/C] NM_004402 DFFB EXON Missense_R330W exm7994 1 3800297 [T/C] NM_004402 DFFB EXON Missense_R337C exm8001 1 3806544 [T/C] NM_207356 C1orf174 EXON Missense_D238N exm8005 1 3806595 [A/G] NM_207356 C1orf174 EXON Nonsense_R221X exm8006 1 3806610 [T/G] NM_207356 C1orf174 EXON Missense_P216T exm8010 1 3806624 [A/G] NM_207356 C1orf174 EXON Missense_A211V exm8021 1 3807291 [T/C] NM_207356 C1orf174 EXON Missense_N154D exm8024 1 3807312 [T/C] NM_207356 C1orf174 EXON Missense_G147R exm2273607 1 3807344 [G/C] NM_207356 C1orf174 EXON Missense_R136T exm8030 1 3807359 [T/C] NM_207356 C1orf174 EXON Missense_R131H exm8031 1 3807360 [A/G] NM_207356 C1orf174 EXON Missense_R131C exm8035 1 3807432 [T/C] NM_207356 C1orf174 EXON Missense_E107K exm8036 1 3807450 [A/C] NM_207356 C1orf174 EXON Missense_A101S exm8037 1 3807482 [T/G] NM_207356 C1orf174 EXON Missense_T90N exm8039 1 3807507 [A/C] NM_207356 C1orf174 EXON Missense_S82A exm8044 1 3807590 [T/C] NM_207356 C1orf174 EXON Missense_R54Q exm8045 1 3807593 [G/C] NM_207356 C1orf174 EXON Missense_T53R exm8055 1 3809520 [T/C] NM_207356 C1orf174 EXON Missense_R19Q exm8059 1 3809544 [T/C] NM_207356 C1orf174 EXON Missense_R11Q exm2268644 1 4037665 [T/C] exm-rs966321 1 4315204 [T/G] exm2251770 1 4363735 [A/C] exm2260335 1 4541390 [A/C] exm-rs241257 1 4614822 [T/C] exm8086 1 4772034 [T/C] NM_018836,NM_001042478 AJAP1,AJAP1 EXON Missense_A35V,Missense_A35V exm8107 1 4772462 [T/A] NM_018836,NM_001042478 AJAP1,AJAP1 EXON Missense_T178S,Missense_T178S exm8113 1 4772535 [A/G] NM_018836,NM_001042478 AJAP1,AJAP1 EXON Missense_G202D,Missense_G202D exm8119 1 4772582 [A/G] NM_018836,NM_001042478 AJAP1,AJAP1 EXON Missense_A218T,Missense_A218T exm8120 1 4772585 [A/G] NM_018836,NM_001042478 AJAP1,AJAP1 EXON Missense_T219A,Missense_T219A exm8121 1 4772619 [T/C] NM_018836,NM_001042478 AJAP1,AJAP1 EXON Missense_T230M,Missense_T230M exm8123 1 4772658 [A/G] NM_018836,NM_001042478 AJAP1,AJAP1 EXON Missense_R243Q,Missense_R243Q exm8127 1 4772717 [A/G] NM_018836,NM_001042478 AJAP1,AJAP1 EXON Missense_G263R,Missense_G263R exm8132 1 4829963 [A/G] NM_018836,NM_001042478 AJAP1,AJAP1 EXON Missense_I294V,Missense_I294V exm2251963 1 4832482 [T/C] NM_018836,NM_001042478 AJAP1,AJAP1 EXON Synonymous_L354L,Synonymous_L354L exm8143 1 4832549 [T/C] NM_018836,NM_001042478 AJAP1,AJAP1 EXON Missense_T376M,Missense_T376M exm1821556 1 4832552 [T/C] NM_018836,NM_001042478 AJAP1,AJAP1 EXON Missense_T377M,Missense_T377M exm8145 1 4832569 [A/C] NM_018836,NM_001042478 AJAP1,AJAP1 EXON Missense_T383P,Missense_T383P exm2268645 1 4955862 [T/C] exm-rs7513590 1 5170712 [A/G] exm2252114 1 5347155 [T/C] exm2252278 1 5717388 [T/C] exm2260467 1 5721189 [A/G] exm8155 1 5923427 [T/A] NM_015102 NPHP4 EXON Missense_F1393L exm8162 1 5924017 [A/G] NM_015102 NPHP4 EXON Missense_S1358F exm8163 1 5924056 [T/C] NM_015102 NPHP4 EXON Missense_G1345D exm1844615 1 5924071 [A/G] NM_015102 NPHP4 EXON Missense_A1340V exm8173 1 5924483 [T/C] NM_015102 NPHP4 EXON Missense_H1304R exm8175 1 5924495 [T/C] NM_015102 NPHP4 EXON Missense_S1300N exm8180 1 5924543 [T/C] NM_015102 NPHP4 EXON Missense_R1284H exm8194 1 5925304 [A/G] NM_015102 NPHP4 EXON Missense_T1225M exm8197 1 5926503 [A/G] NM_015102 NPHP4 EXON Missense_R1192W exm8201 1 5927169 [A/G] NM_015102 NPHP4 EXON Missense_P1160L exm8202 1 5927827 [A/G] NM_015102 NPHP4 EXON Missense_R1149C exm8208 1 5927943 [A/G] NM_015102 NPHP4 EXON Missense_A1110V exm8212 1 5933335 [T/C] NM_015102 NPHP4 EXON Missense_A1098T exm2275415 1 5933360 [A/G] NM_015102 NPHP4 EXON Synonymous_D1089D exm8213 1 5933384 [C/G] NM_015102 NPHP4 EXON Synonymous_G1081G exm2252388 1 5933384 [C/G] NM_015102 NPHP4 EXON Synonymous_G1081G exm8217 1 5934581 [T/C] NM_015102 NPHP4 EXON Missense_V1061I exm8218 1 5934587 [T/C] NM_015102 NPHP4 EXON Missense_A1059T exm8224 1 5934652 [T/G] NM_015102 NPHP4 EXON Missense_E1037A exm8230 1 5934716 [T/C] NM_015102 NPHP4 EXON Missense_V1016I exm8235 1 5934950 [T/C] NM_015102 NPHP4 EXON Missense_D1010N exm8236 1 5935013 [T/C] NM_015102 NPHP4 EXON Missense_E989K exm8243 1 5935039 [A/G] NM_015102 NPHP4 EXON Missense_T980M exm8245 1 5935064 [T/C] NM_015102 NPHP4 EXON Missense_S972G exm8251 1 5935102 [T/C] NM_015102 NPHP4 EXON Missense_R959Q exm8258 1 5935144 [T/C] NM_015102 NPHP4 EXON Missense_R945H exm8261 1 5935159 [A/G] NM_015102 NPHP4 EXON Missense_A940V exm8262 1 5935162 [T/A] NM_015102 NPHP4 Silent exm8263 1 5937158 [T/C] NM_015102 NPHP4 EXON Missense_V938M exm1844859 1 5937254 [A/G] NM_015102 NPHP4 EXON Missense_R906C exm8271 1 5937289 [T/C] NM_015102 NPHP4 EXON Missense_H894R exm8272 1 5937317 [T/G] NM_015102 NPHP4 EXON Missense_S885R exm8283 1 5940228 [A/C] NM_015102 NPHP4 EXON Missense_D853Y exm8285 1 5940243 [A/G] NM_015102 NPHP4 EXON Missense_R848W exm8286 1 5940254 [A/G] NM_015102 NPHP4 EXON Missense_P844L exm8288 1 5940266 [T/C] NM_015102 NPHP4 EXON Missense_S840N exm8291 1 5947373 [A/G] NM_015102 NPHP4 EXON Missense_R820W exm8304 1 5947504 [C/G] NM_015102 NPHP4 EXON Missense_P776R exm8307 1 5947525 [A/T] NM_015102 NPHP4 EXON Missense_H769L exm8310 1 5950939 [T/C] NM_015102 NPHP4 EXON Missense_V765I exm8313 1 5950975 [T/C] NM_015102 NPHP4 EXON Missense_D753N exm1844957 1 5950982 [A/G] NM_015102 NPHP4 EXON Synonymous_D750D exm8314 1 5951002 [T/C] NM_015102 NPHP4 EXON Missense_V744M exm8315 1 5951013 [T/C] NM_015102 NPHP4 EXON Missense_R740H exm8318 1 5951029 [A/G] NM_015102 NPHP4 EXON Missense_R735W exm8320 1 5964678 [T/A] NM_015102 NPHP4 EXON Synonymous_A714A exm8323 1 5964769 [T/C] NM_015102 NPHP4 EXON Missense_Q684R exm8333 1 5964854 [T/C] NM_015102 NPHP4 EXON Missense_D656N exm2252398 1 5965372 [T/C] NM_015102 NPHP4 EXON Synonymous_L645L exm8340 1 5965427 [A/G] NM_015102 NPHP4 EXON Missense_T627M exm8342 1 5965440 [T/C] NM_015102 NPHP4 EXON Missense_T623A exm8344 1 5965455 [T/C] NM_015102 NPHP4 EXON Missense_E618K exm8348 1 5965494 [T/C] NM_015102 NPHP4 EXON Missense_G605S exm8352 1 5965750 [G/C] NM_015102 NPHP4 EXON Missense_Q569E exm8359 1 5965833 [A/G] NM_015102 NPHP4 EXON Missense_P541L exm8370 1 5969237 [A/G] NM_015102 NPHP4 EXON Missense_P493L exm8383 1 5993223 [G/C] NM_015102 NPHP4 EXON Missense_S429T exm1845084 1 5993313 [T/C] NM_015102 NPHP4 EXON Missense_E399G exm8390 1 5993383 [A/C] NM_015102 NPHP4 EXON Missense_S376A exm2252413 1 6007194 [A/C] NM_015102 NPHP4 EXON Synonymous_V363V exm8393 1 6007259 [A/G] NM_015102 NPHP4 EXON Missense_R342C exm8396 1 6008178 [A/G] NM_015102 NPHP4 EXON Missense_T315M exm8409 1 6008269 [A/G] NM_015102 NPHP4 EXON Missense_R285W exm8411 1 6012770 [A/T] NM_015102 NPHP4 EXON Missense_H267L exm8414 1 6012895 [A/G] NM_015102 NPHP4 EXON Synonymous_G225G exm8420 1 6027365 [T/C] NM_015102 NPHP4 EXON Missense_A171T exm8421 1 6027409 [T/C] NM_015102 NPHP4 EXON Missense_H156R exm8434 1 6038338 [A/G] NM_015102 NPHP4 EXON Missense_F91L exm8438 1 6038352 [A/G] NM_015102 NPHP4 EXON Missense_P86L exm8441 1 6038433 [T/C] NM_015102 NPHP4 EXON Missense_R59Q exm8446 1 6046264 [A/G] NM_015102 NPHP4 EXON Missense_T29M exm8453 1 6100645 [T/C] NM_001199861,NM_172130,NM_003636,NM_001199860 KCNAB2,KCNAB2,KCNAB2,KCNAB2 EXON Missense_T6M,Missense_T6M,Missense_T6M,Missense_T6M exm8467 1 6111721 [T/C] NM_001199861,NM_172130,NM_003636,NM_001199860,NM_001199862,NM_001199863 KCNAB2,KCNAB2,KCNAB2,KCNAB2,KCNAB2,KCNAB2 EXON Silent,Silent,Silent,Silent,Missense_A42V,Silent exm8468 1 6111757 [A/G] NM_001199861,NM_172130,NM_003636,NM_001199860,NM_001199862,NM_001199863 KCNAB2,KCNAB2,KCNAB2,KCNAB2,KCNAB2,KCNAB2 EXON Silent,Silent,Silent,Silent,Missense_R54H,Silent exm8480 1 6145272 [T/C] NM_001199861,NM_172130,NM_003636,NM_001199860,NM_001199862,NM_001199863 KCNAB2,KCNAB2,KCNAB2,KCNAB2,KCNAB2,KCNAB2 EXON Missense_V97A,Missense_V83A,Missense_V97A,Missense_V97A,Missense_V130A,Missense_V30A exm8487 1 6147540 [A/G] NM_001199861,NM_172130,NM_003636,NM_001199860,NM_001199862,NM_001199863 KCNAB2,KCNAB2,KCNAB2,KCNAB2,KCNAB2,KCNAB2 EXON Missense_V114I,Missense_V100I,Missense_V114I,Missense_V114I,Missense_V147I,Missense_V47I exm2264794 1 6153525 [A/G] NM_001199861,NM_172130,NM_003636,NM_001199860,NM_001199862,NM_001199863 KCNAB2,KCNAB2,KCNAB2,KCNAB2,KCNAB2,KCNAB2 Silent,Silent,Silent,Silent,Silent,Silent exm8535 1 6157383 [T/C] NM_001199861,NM_172130,NM_003636,NM_001199860,NM_001199862,NM_001199863 KCNAB2,KCNAB2,KCNAB2,KCNAB2,KCNAB2,KCNAB2 EXON Missense_A327V,Missense_A313V,Missense_A327V,Missense_A327V,Missense_A375V,Missense_A260V exm8543 1 6158569 [A/G] NM_001199861,NM_172130,NM_003636,NM_001199860,NM_001199862,NM_001199863 KCNAB2,KCNAB2,KCNAB2,KCNAB2,KCNAB2,KCNAB2 EXON Missense_I347V,Missense_I333V,Missense_I347V,Missense_I347V,Missense_I395V,Missense_I280V exm8579 1 6171835 [A/G] NM_015557 CHD5 EXON Missense_T1750M exm8582 1 6171893 [T/G] NM_015557 CHD5 EXON Missense_K1731Q exm8587 1 6172260 [T/C] NM_015557 CHD5 EXON Missense_K1694E exm8588 1 6172266 [A/C] NM_015557 CHD5 EXON Missense_G1692W exm8597 1 6181177 [T/G] NM_015557 CHD5 EXON Missense_Q1634K exm8598 1 6181215 [T/C] NM_015557 CHD5 EXON Missense_R1621Q exm8602 1 6181252 [T/C] NM_015557 CHD5 EXON Missense_E1609K exm8609 1 6181605 [A/C] NM_015557 CHD5 EXON Missense_M1576I exm8644 1 6185909 [T/C] NM_015557 CHD5 EXON Missense_D1363G exm8659 1 6188904 [T/C] NM_015557 CHD5 EXON Missense_V1205M exm8677 1 6191706 [T/C] NM_015557 CHD5 EXON Missense_I1083V exm8725 1 6202556 [T/C] NM_015557 CHD5 EXON Missense_G718D exm8730 1 6202647 [T/C] NM_015557 CHD5 EXON Missense_K688E exm8731 1 6203883 [A/G] NM_015557 CHD5 EXON Synonymous_D681D exm8747 1 6204150 [T/G] NM_015557 CHD5 EXON Missense_T623N exm8755 1 6206323 [T/C] NM_015557 CHD5 EXON Missense_R584H exm8757 1 6206387 [G/C] NM_015557 CHD5 EXON Missense_G563R exm8760 1 6206422 [T/G] NM_015557 CHD5 EXON Missense_P551Q exm8768 1 6206877 [G/C] NM_015557 CHD5 EXON Missense_P480A exm8769 1 6206882 [A/G] NM_015557 CHD5 EXON Missense_T478M exm8774 1 6208966 [T/G] NM_015557 CHD5 EXON Missense_N444T exm8811 1 6214876 [T/C] NM_015557 CHD5 EXON Missense_A197T exm1850770 1 6215695 [A/G] NM_015557 CHD5 EXON Missense_T157M exm8817 1 6215713 [A/G] NM_015557 CHD5 EXON Missense_S151L exm8903 1 6269069 [A/C] NM_207396 RNF207 EXON Missense_D151E exm8937 1 6270963 [T/C] NM_207396 RNF207 EXON Missense_R326W exm8938 1 6270964 [A/G] NM_207396 RNF207 EXON Missense_R326Q exm8940 1 6271096 [T/C] NM_207396 RNF207 EXON Nonsense_R343X exm8946 1 6271178 [T/C] NM_207396 RNF207 EXON Missense_T370M exm8949 1 6272028 [A/G] NM_207396 RNF207 EXON Missense_R404Q exm8951 1 6272063 [A/G] NM_207396 RNF207 EXON Missense_E416K exm8952 1 6272065 [G/C] NM_207396 RNF207 EXON Missense_E416D exm8955 1 6272078 [A/G] NM_207396 RNF207 EXON Missense_A421T exm8957 1 6272090 [T/C] NM_207396 RNF207 EXON Missense_R425C exm8962 1 6272342 [T/C] NM_207396 RNF207 EXON Nonsense_R450X exm8964 1 6272364 [T/C] NM_207396 RNF207 EXON Missense_S457L exm1853088 1 6272793 [A/G] NM_207396 RNF207 EXON Missense_A512T exm8982 1 6273207 [A/G] NM_207396 RNF207 EXON Missense_R539H exm8990 1 6278414 [A/G] NM_207396 RNF207 EXON Missense_N573S exm8992 1 6278425 [A/G] NM_207396 RNF207 EXON Missense_A577T exm8994 1 6279316 [T/C] NM_207396 RNF207 EXON Missense_P585L exm8997 1 6279370 [C/G] NM_207396 RNF207 EXON Missense_G603A exm8999 1 6279383 [C/G] NM_207396 RNF207 EXON Missense_E607D exm9016 1 6293647 [T/C] NM_012405 ICMT EXON Missense_N114S exm9017 1 6293674 [A/T] NM_012405 ICMT EXON Missense_Y105F exm9019 1 6295019 [T/A] NM_012405 ICMT EXON Missense_C71S exm9031 1 6304454 [A/G] NM_001024598 HES3 EXON Missense_N10S exm9036 1 6304618 [A/G] NM_001024598 HES3 EXON Missense_R31H exm9051 1 6305557 [A/G] NM_001024598 HES3 EXON Missense_D184G exm9066 1 6310562 [G/C] NM_207370 GPR153 EXON Missense_G368R exm9070 1 6310624 [T/C] NM_207370 GPR153 EXON Missense_G347D exm9071 1 6310639 [T/C] NM_207370 GPR153 EXON Missense_R342H exm9104 1 6313887 [T/C] NM_207370 GPR153 EXON Missense_R226Q exm9114 1 6313951 [A/G] NM_207370 GPR153 EXON Missense_R205C exm9115 1 6313963 [T/C] NM_207370 GPR153 EXON Missense_V201M exm9137 1 6314743 [T/C] NM_207370 GPR153 EXON Missense_D75N exm9138 1 6314748 [T/C] NM_207370 GPR153 EXON Missense_R73H exm1857120 1 6324673 [A/G] NM_181866,NM_181865,NM_181864,NM_007274 ACOT7,ACOT7,ACOT7,ACOT7 EXON Missense_A325V,Missense_A346V,Missense_A376V,Missense_A366V exm2252586 1 6378607 [A/G] NM_181866,NM_181865,NM_181864,NM_007274 ACOT7,ACOT7,ACOT7,ACOT7 EXON Synonymous_S178S,Synonymous_S199S,Synonymous_S229S,Synonymous_S219S exm9186 1 6378607 [A/G] NM_181866,NM_181865,NM_181864,NM_007274 ACOT7,ACOT7,ACOT7,ACOT7 EXON Synonymous_S178S,Synonymous_S199S,Synonymous_S229S,Synonymous_S219S exm2233698 1 6409810 [A/C] NM_181866,NM_181865,NM_181864,NM_007274 ACOT7,ACOT7,ACOT7,ACOT7 EXON Missense_G46V,Missense_G67V,Missense_G97V,Missense_G87V exm9222 1 6420661 [A/C] NM_181865,NM_181864,NM_007274 ACOT7,ACOT7,ACOT7 EXON Missense_D18Y,Silent,Silent exm9255 1 6479372 [A/G] NM_019089 HES2 EXON Missense_A57V exm9256 1 6479393 [T/C] NM_019089 HES2 EXON Missense_N50S exm9274 1 6485305 [A/T] NM_031475 ESPN EXON Missense_V97E exm9279 1 6488328 [T/C] NM_031475 ESPN EXON Missense_R113C exm9324 1 6504575 [T/C] NM_031475 ESPN EXON Missense_S342F exm9327 1 6504598 [T/C] NM_031475 ESPN EXON Missense_P350S exm9330 1 6504619 [T/C] NM_031475 ESPN EXON Missense_P357S exm9339 1 6504736 [T/C] NM_031475 ESPN EXON Missense_P396S exm9346 1 6505796 [A/G] NM_031475 ESPN EXON Missense_R422Q exm9395 1 6517262 [T/C] NM_031475 ESPN EXON Missense_R782W exm9406 1 6520127 [T/C] NM_031475 ESPN EXON Missense_T829M exm9437 1 6522218 [C/G] NM_148965,NM_003790,NM_148966,NM_148970,NM_148967 TNFRSF25,TNFRSF25,TNFRSF25,TNFRSF25,TNFRSF25 EXON Missense_P263R,Missense_P254R,Missense_P217R,Missense_P71R,Missense_P209R exm9445 1 6522724 [T/C] NM_148965,NM_003790,NM_148966,NM_148970,NM_148967 TNFRSF25,TNFRSF25,TNFRSF25,TNFRSF25,TNFRSF25 EXON Missense_D246N,Missense_D237N,Silent,Silent,Missense_D192N exm9447 1 6522961 [A/G] NM_148965,NM_003790,NM_148966,NM_148970,NM_148967 TNFRSF25,TNFRSF25,TNFRSF25,TNFRSF25,TNFRSF25 EXON Missense_T232I,Missense_T223I,Silent,Silent,Missense_T178I exm9452 1 6523155 [A/G] NM_148965,NM_003790,NM_148966,NM_148970,NM_148967 TNFRSF25,TNFRSF25,TNFRSF25,TNFRSF25,TNFRSF25 EXON Missense_P199S,Missense_A192V,Missense_A192V,Silent,Missense_A147V exm9459 1 6524501 [T/C] NM_148965,NM_003790,NM_148966,NM_148970,NM_148967,NM_001039664 TNFRSF25,TNFRSF25,TNFRSF25,TNFRSF25,TNFRSF25,TNFRSF25 EXON Missense_D159G,Missense_D159G,Missense_D159G,Silent,Missense_D114G,Missense_D159G exm9480 1 6525267 [G/C] NM_148965,NM_003790,NM_148966,NM_148970,NM_148967,NM_001039664 TNFRSF25,TNFRSF25,TNFRSF25,TNFRSF25,TNFRSF25,TNFRSF25 EXON Missense_A59G,Missense_A59G,Missense_A59G,Silent,Silent,Missense_A59G exm9484 1 6525565 [T/C] NM_148965,NM_003790,NM_148966,NM_148970,NM_148967,NM_001039664 TNFRSF25,TNFRSF25,TNFRSF25,TNFRSF25,TNFRSF25,TNFRSF25 EXON Missense_R32K,Missense_R32K,Missense_R32K,Missense_R32K,Missense_R32K,Missense_R32K exm9487 1 6525592 [T/C] NM_148965,NM_003790,NM_148966,NM_148970,NM_148967,NM_001039664 TNFRSF25,TNFRSF25,TNFRSF25,TNFRSF25,TNFRSF25,TNFRSF25 EXON Missense_R23Q,Missense_R23Q,Missense_R23Q,Missense_R23Q,Missense_R23Q,Missense_R23Q exm9506 1 6528069 [G/C] NM_198681,NM_020631,NM_001042664,NM_001265594,NM_001265592,NM_001042663,NM_001042665,NM_001265593 PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5 EXON Missense_G1020R,Missense_G943R,Missense_G943R,Silent,Missense_G1022R,Missense_G999R,Missense_G943R,Missense_G1012R exm9513 1 6528219 [T/C] NM_198681,NM_020631,NM_001042664,NM_001265594,NM_001265592,NM_001042663,NM_001042665,NM_001265593 PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5 EXON Missense_G970R,Missense_G893R,Missense_G893R,Missense_G893R,Missense_G972R,Missense_G949R,Missense_G893R,Missense_G962R exm9518 1 6528302 [T/C] NM_198681,NM_020631,NM_001042664,NM_001265594,NM_001265592,NM_001042663,NM_001042665,NM_001265593 PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5 EXON Missense_Q942R,Missense_Q865R,Missense_Q865R,Missense_Q865R,Missense_Q944R,Missense_Q921R,Missense_Q865R,Missense_Q934R exm9523 1 6528371 [T/C] NM_198681,NM_020631,NM_001042664,NM_001265594,NM_001265592,NM_001042663,NM_001042665,NM_001265593 PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5 EXON Missense_R919Q,Missense_R842Q,Missense_R842Q,Missense_R842Q,Missense_R921Q,Missense_R898Q,Missense_R842Q,Missense_R911Q exm9525 1 6528468 [T/C] NM_198681,NM_020631,NM_001042664,NM_001265594,NM_001265592,NM_001042663,NM_001042665,NM_001265593 PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5 EXON Missense_G887S,Missense_G810S,Missense_G810S,Missense_G810S,Missense_G889S,Missense_G866S,Missense_G810S,Missense_G879S exm1860664 1 6529187 [T/C] NM_198681,NM_020631,NM_001042664,NM_001265594,NM_001265592,NM_001042663,NM_001042665,NM_001265593 PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5 EXON Missense_E799K,Missense_E722K,Missense_E722K,Missense_E722K,Missense_E801K,Missense_E778K,Missense_E722K,Missense_E791K exm9556 1 6529605 [A/G] NM_198681,NM_020631,NM_001042664,NM_001265594,NM_001265592,NM_001042663,NM_001042665,NM_001265593 PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5 EXON Synonymous_P721P,Synonymous_P644P,Synonymous_P644P,Synonymous_P644P,Synonymous_P723P,Synonymous_P700P,Synonymous_P644P,Synonymous_P713P exm9570 1 6530372 [A/G] NM_198681,NM_020631,NM_001042664,NM_001265594,NM_001265592,NM_001042663,NM_001042665,NM_001265593 PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5 EXON Missense_P652L,Missense_P575L,Missense_P575L,Missense_P575L,Missense_P654L,Missense_P631L,Missense_P575L,Missense_P644L exm9571 1 6530391 [T/C] NM_198681,NM_020631,NM_001042664,NM_001265594,NM_001265592,NM_001042663,NM_001042665,NM_001265593 PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5 EXON Missense_D646N,Missense_D569N,Missense_D569N,Missense_D569N,Missense_D648N,Missense_D625N,Missense_D569N,Missense_D638N exm9576 1 6530645 [T/C] NM_198681,NM_020631,NM_001042664,NM_001265594,NM_001265592,NM_001042663,NM_001042665,NM_001265593 PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5 EXON Missense_E611G,Missense_E534G,Missense_E534G,Missense_E534G,Missense_E613G,Missense_E590G,Missense_E534G,Missense_E603G exm2273609 1 6530940 [A/G] NM_198681,NM_020631,NM_001042664,NM_001265594,NM_001265592,NM_001042663,NM_001042665,NM_001265593 PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5 EXON Missense_A543V,Missense_A466V,Missense_A466V,Missense_A466V,Missense_A545V,Missense_A522V,Missense_A466V,Missense_A535V exm9585 1 6531124 [T/C] NM_198681,NM_020631,NM_001042664,NM_001265594,NM_001265592,NM_001042663,NM_001042665,NM_001265593 PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5 EXON Missense_M517V,Missense_M440V,Missense_M440V,Missense_M440V,Missense_M519V,Missense_M496V,Missense_M440V,Missense_M509V exm9590 1 6531589 [T/C] NM_198681,NM_020631,NM_001042664,NM_001265594,NM_001265592,NM_001042663,NM_001042665,NM_001265593 PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5 EXON Missense_A491T,Missense_A414T,Missense_A414T,Missense_A414T,Missense_A493T,Missense_A470T,Missense_A414T,Missense_A483T exm9606 1 6532648 [A/G] NM_198681,NM_020631,NM_001042664,NM_001265594,NM_001265592,NM_001042663,NM_001042665,NM_001265593 PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5 EXON Missense_A417V,Missense_A340V,Missense_A340V,Missense_A340V,Missense_A419V,Missense_A396V,Missense_A340V,Missense_A409V exm9608 1 6532673 [A/G] NM_198681,NM_020631,NM_001042664,NM_001265594,NM_001265592,NM_001042663,NM_001042665,NM_001265593 PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5 EXON Missense_R409W,Missense_R332W,Missense_R332W,Missense_R332W,Missense_R411W,Missense_R388W,Missense_R332W,Missense_R401W exm9611 1 6533102 [T/C] NM_198681,NM_020631,NM_001042664,NM_001265594,NM_001265592,NM_001042663,NM_001042665,NM_001265593 PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5 EXON Missense_D387N,Missense_D310N,Missense_D310N,Missense_D310N,Missense_D389N,Missense_D366N,Missense_D310N,Missense_D379N exm9620 1 6533207 [T/C] NM_198681,NM_020631,NM_001042664,NM_001265594,NM_001265592,NM_001042663,NM_001042665,NM_001265593 PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5 EXON Missense_G352S,Missense_G275S,Missense_G275S,Missense_G275S,Missense_G354S,Missense_G331S,Missense_G275S,Missense_G344S exm9626 1 6533393 [G/C] NM_198681,NM_020631,NM_001042664,NM_001265594,NM_001265592,NM_001042663,NM_001042665,NM_001265593 PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5 EXON Missense_T315S,Missense_T238S,Missense_T238S,Missense_T238S,Missense_T317S,Missense_T294S,Missense_T238S,Missense_T307S exm9630 1 6534132 [T/C] NM_198681,NM_020631,NM_001042664,NM_001265594,NM_001265592,NM_001042663,NM_001042665,NM_001265593 PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5 EXON Missense_G255R,Missense_G178R,Missense_G178R,Missense_G178R,Missense_G257R,Missense_G234R,Missense_G178R,Missense_G247R exm9632 1 6534155 [A/G] NM_198681,NM_020631,NM_001042664,NM_001265594,NM_001265592,NM_001042663,NM_001042665,NM_001265593 PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5 EXON Missense_P247L,Missense_P170L,Missense_P170L,Missense_P170L,Missense_P249L,Missense_P226L,Missense_P170L,Missense_P239L exm9634 1 6534182 [A/G] NM_198681,NM_020631,NM_001042664,NM_001265594,NM_001265592,NM_001042663,NM_001042665,NM_001265593 PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5 EXON Missense_M238T,Missense_M161T,Missense_M161T,Missense_M161T,Missense_M240T,Missense_M217T,Missense_M161T,Missense_M230T exm9636 1 6534226 [T/C] NM_198681,NM_020631,NM_001042664,NM_001265594,NM_001265592,NM_001042663,NM_001042665,NM_001265593 PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm1860833 1 6534600 [T/C] NM_198681,NM_020631,NM_001042664,NM_001265594,NM_001265592,NM_001042663,NM_001042665,NM_001265593 PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5 EXON Missense_K194R,Missense_K117R,Missense_K117R,Missense_K117R,Missense_K196R,Missense_K173R,Missense_K117R,Missense_K186R exm9643 1 6534643 [T/C] NM_198681,NM_020631,NM_001042664,NM_001265594,NM_001265592,NM_001042663,NM_001042665,NM_001265593 PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5 EXON Missense_V180M,Missense_V103M,Missense_V103M,Missense_V103M,Missense_V182M,Missense_V159M,Missense_V103M,Missense_V172M exm9646 1 6535149 [A/G] NM_198681,NM_020631,NM_001042664,NM_001265594,NM_001265592,NM_001042663,NM_001042665,NM_001265593 PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5 EXON Missense_I164T,Missense_I87T,Missense_I87T,Missense_I87T,Missense_I166T,Missense_I143T,Missense_I87T,Missense_I156T exm9654 1 6536057 [A/G] NM_198681,NM_020631,NM_001042664,NM_001265594,NM_001265592,NM_001042663,NM_001042665,NM_001265593 PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5 EXON Missense_P105L,Missense_P28L,Missense_P28L,Missense_P28L,Missense_P107L,Missense_P84L,Missense_P28L,Missense_P97L exm9655 1 6536076 [T/C] NM_198681,NM_020631,NM_001042664,NM_001265594,NM_001265592,NM_001042663,NM_001042665,NM_001265593 PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5 EXON Missense_V99M,Missense_V22M,Missense_V22M,Missense_V22M,Missense_V101M,Missense_V78M,Missense_V22M,Missense_V91M exm2268861 1 6550376 [T/C] NM_198681,NM_020631,NM_001042664,NM_001265594,NM_001265592,NM_001042663 PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5 Silent,Silent,Silent,Silent,Silent,Silent exm2233725 1 6550505 [T/C] NM_198681,NM_020631,NM_001042664,NM_001265594,NM_001265592,NM_001042663 PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5 EXON Silent,Silent,Silent,Silent,Silent,Silent exm9669 1 6556585 [A/G] NM_198681,NM_001265592,NM_001042663 PLEKHG5,PLEKHG5,PLEKHG5 EXON Missense_P38S,Missense_P40S,Missense_P17S exm9686 1 6585940 [A/G] NM_024654 NOL9 EXON Missense_P695S exm9702 1 6589087 [T/C] NM_024654 NOL9 EXON Missense_A598T exm9726 1 6592718 [A/G] NM_024654 NOL9 EXON Missense_P447L exm2233730 1 6592800 [T/C] NM_024654 NOL9 EXON Missense_I420V exm9742 1 6601932 [A/G] NM_024654 NOL9 EXON Missense_P345S exm1863117 1 6605226 [A/C] NM_024654 NOL9 EXON Missense_Q253H exm9750 1 6609659 [A/G] NM_024654 NOL9 EXON Missense_P239L exm9755 1 6610478 [G/C] NM_024654 NOL9 EXON Missense_L198F exm9758 1 6610486 [A/G] NM_024654 NOL9 EXON Missense_R196W exm9772 1 6614303 [A/G] NM_024654 NOL9 EXON Missense_P87L exm9783 1 6614526 [A/G] NM_024654 NOL9 EXON Missense_C13R exm9786 1 6614535 [A/G] NM_024654 NOL9 EXON Missense_R10W exm9788 1 6615444 [A/G] NM_138697,NM_177540 TAS1R1,TAS1R1 EXON Missense_C4Y,Missense_C4Y exm9789 1 6615467 [T/C] NM_138697,NM_177540 TAS1R1,TAS1R1 EXON Nonsense_Q12X,Nonsense_Q12X exm9790 1 6615469 [C/G] NM_138697,NM_177540 TAS1R1,TAS1R1 EXON Missense_Q12H,Missense_Q12H exm9800 1 6631106 [T/C] NM_138697,NM_177540 TAS1R1,TAS1R1 EXON Missense_A110V,Missense_A110V exm9802 1 6631121 [T/C] NM_138697,NM_177540 TAS1R1,TAS1R1 EXON Missense_T115M,Missense_T115M exm9805 1 6631153 [A/C] NM_138697,NM_177540 TAS1R1,TAS1R1 EXON Missense_H126N,Missense_H126N exm9806 1 6631157 [T/C] NM_138697,NM_177540 TAS1R1,TAS1R1 EXON Missense_I127T,Missense_I127T exm-rs11587438 1 6631431 [T/C] NM_138697,NM_177540 TAS1R1,TAS1R1 Silent,Silent exm9821 1 6634731 [A/G] NM_138697,NM_177540 TAS1R1,TAS1R1 EXON Missense_R180Q,Silent exm9822 1 6634733 [G/C] NM_138697,NM_177540 TAS1R1,TAS1R1 EXON Missense_Q181E,Silent exm9823 1 6634764 [A/G] NM_138697,NM_177540 TAS1R1,TAS1R1 EXON Missense_N191S,Silent exm9831 1 6634901 [A/C] NM_138697,NM_177540 TAS1R1,TAS1R1 EXON Missense_I237L,Silent exm9833 1 6634973 [T/C] NM_138697,NM_177540 TAS1R1,TAS1R1 EXON Missense_R261C,Silent exm9848 1 6635231 [A/G] NM_138697,NM_177540 TAS1R1,TAS1R1 EXON Missense_K347E,Silent exm9849 1 6635235 [T/C] NM_138697,NM_177540 TAS1R1,TAS1R1 EXON Missense_A348V,Silent exm9850 1 6635259 [C/G] NM_138697,NM_177540 TAS1R1,TAS1R1 EXON Missense_S356C,Silent exm9851 1 6635294 [G/C] NM_138697,NM_177540 TAS1R1,TAS1R1 EXON Missense_Q368E,Silent exm9852 1 6635306 [A/G] NM_138697,NM_177540 TAS1R1,TAS1R1 EXON Missense_A372T,Silent exm9853 1 6635309 [A/C] NM_138697,NM_177540 TAS1R1,TAS1R1 EXON Missense_H373N,Silent exm9860 1 6635420 [T/G] NM_138697,NM_177540 TAS1R1,TAS1R1 EXON Missense_A410S,Silent exm9863 1 6635448 [A/G] NM_138697,NM_177540 TAS1R1,TAS1R1 EXON Nonsense_W419X,Silent exm9872 1 6636610 [G/C] NM_138697,NM_177540 TAS1R1,TAS1R1 EXON Missense_L466V,Missense_L212V exm9874 1 6636622 [A/G] NM_138697,NM_177540 TAS1R1,TAS1R1 EXON Missense_T470A,Missense_T216A exm9875 1 6636662 [T/C] NM_138697,NM_177540 TAS1R1,TAS1R1 EXON Missense_I483T,Missense_I229T exm9880 1 6636684 [C/G] NM_138697,NM_177540 TAS1R1,TAS1R1 EXON Missense_N490K,Missense_N236K exm1863306 1 6637055 [G/C] NM_138697,NM_177540 TAS1R1,TAS1R1 EXON Missense_R507G,Missense_R253G exm9881 1 6637056 [A/G] NM_138697,NM_177540 TAS1R1,TAS1R1 EXON Missense_R507Q,Missense_R253Q exm9889 1 6638779 [T/C] NM_138697,NM_177540 TAS1R1,TAS1R1 EXON Missense_P554L,Missense_P300L exm9897 1 6638869 [G/C] NM_138697,NM_177540 TAS1R1,TAS1R1 EXON Missense_T584S,Missense_T330S exm9899 1 6638925 [T/C] NM_138697,NM_177540 TAS1R1,TAS1R1 EXON Missense_R603C,Missense_R349C exm9900 1 6638926 [A/G] NM_138697,NM_177540 TAS1R1,TAS1R1 EXON Missense_R603H,Missense_R349H exm9901 1 6638949 [T/C] NM_138697,NM_177540 TAS1R1,TAS1R1 EXON Missense_S611P,Missense_S357P exm9904 1 6638995 [T/C] NM_138697,NM_177540 TAS1R1,TAS1R1 EXON Missense_P626L,Missense_P372L exm9907 1 6639073 [A/G] NM_138697,NM_177540 TAS1R1,TAS1R1 EXON Missense_R652H,Missense_R398H exm9912 1 6639150 [A/G] NM_138697,NM_177540 TAS1R1,TAS1R1 EXON Missense_G678S,Missense_G424S exm9917 1 6639184 [T/C] NM_138697,NM_177540 TAS1R1,TAS1R1 EXON Missense_A689V,Missense_A435V exm1863319 1 6639343 [T/C] NM_138697,NM_177540 TAS1R1,TAS1R1 EXON Missense_A742V,Missense_A488V exm9923 1 6639369 [A/G] NM_138697,NM_177540 TAS1R1,TAS1R1 EXON Missense_D751N,Missense_D497N exm9928 1 6639411 [A/G] NM_138697,NM_177540 TAS1R1,TAS1R1 EXON Missense_S765G,Missense_S511G exm9930 1 6639436 [A/G] NM_138697,NM_177540 TAS1R1,TAS1R1 EXON Nonsense_W773X,Nonsense_W519X exm9933 1 6639525 [A/G] NM_138697,NM_177540 TAS1R1,TAS1R1 EXON Missense_G803S,Missense_G549S exm9934 1 6639538 [A/G] NM_138697,NM_177540 TAS1R1,TAS1R1 EXON Missense_Y807C,Missense_Y553C exm9952 1 6641060 [C/G] NM_005341 ZBTB48 EXON Missense_G131R exm9962 1 6641300 [A/G] NM_005341 ZBTB48 EXON Missense_K211E exm9965 1 6641348 [A/G] NM_005341 ZBTB48 EXON Missense_G227S exm1863358 1 6648196 [A/G] NM_005341 ZBTB48 EXON Missense_T486A exm10030 1 6649228 [T/G] NM_005341 ZBTB48 EXON Missense_S675A exm2233733 1 6653499 [T/C] NM_014851 KLHL21 EXON Missense_E574K exm10054 1 6653606 [T/C] NM_014851 KLHL21 EXON Missense_R538H exm2233734 1 6653687 [G/C] NM_014851 KLHL21 EXON Missense_G511A exm10068 1 6655595 [T/C] NM_014851 KLHL21 EXON Missense_V484M exm10076 1 6659186 [T/G] NM_014851 KLHL21 EXON Missense_L450M exm2233736 1 6659316 [A/C] NM_014851 KLHL21 EXON Missense_Q406H exm10083 1 6659326 [T/G] NM_014851 KLHL21 EXON Missense_E403A exm10084 1 6659353 [T/C] NM_014851 KLHL21 EXON Missense_R394H exm10091 1 6659437 [A/G] NM_014851 KLHL21 EXON Missense_A366V exm10104 1 6662057 [A/G] NM_014851 KLHL21 EXON Missense_P274L exm10157 1 6680083 [A/G] NM_153812 PHF13 EXON Missense_K121R exm10158 1 6680100 [A/G] NM_153812 PHF13 EXON Missense_S127G exm10186 1 6688578 [G/C] NM_001195753,NM_001195752,NM_138350 THAP3,THAP3,THAP3 EXON Missense_E32Q,Missense_E32Q,Missense_E32Q exm10188 1 6688639 [T/C] NM_001195753,NM_001195752,NM_138350 THAP3,THAP3,THAP3 EXON Missense_T52M,Missense_T52M,Missense_T52M exm10190 1 6688680 [A/G] NM_001195753,NM_001195752,NM_138350 THAP3,THAP3,THAP3 EXON Missense_A66T,Missense_A66T,Missense_A66T exm10192 1 6688740 [A/G] NM_001195753,NM_001195752,NM_138350 THAP3,THAP3,THAP3 EXON Missense_D86N,Missense_D86N,Missense_D86N exm10202 1 6692464 [T/C] NM_001195753,NM_001195752,NM_138350 THAP3,THAP3,THAP3 EXON Missense_A116V,Missense_A115V,Missense_A123V exm10212 1 6692932 [A/G] NM_001195753,NM_001195752,NM_138350 THAP3,THAP3,THAP3 EXON Missense_N172S,Missense_N171S,Silent exm10224 1 6694099 [A/C] NM_138350 THAP3 EXON Missense_E160A exm10227 1 6694119 [T/C] NM_138350 THAP3 EXON Missense_R167C exm10253 1 6695754 [T/C] NM_018198 DNAJC11 EXON Missense_R554K exm10276 1 6697530 [A/G] NM_018198 DNAJC11 EXON Missense_I453T exm10282 1 6698390 [T/C] NM_018198 DNAJC11 EXON Missense_D430N exm10286 1 6700035 [T/C] NM_018198 DNAJC11 EXON Missense_V394M exm10303 1 6705875 [T/G] NM_018198 DNAJC11 EXON Missense_T290P exm10307 1 6705944 [T/C] NM_018198 DNAJC11 EXON Missense_V267M exm10309 1 6705986 [T/C] NM_018198 DNAJC11 EXON Missense_G253S exm10310 1 6706030 [A/G] NM_018198 DNAJC11 EXON Missense_T238I exm10343 1 6741027 [T/A] NM_018198 DNAJC11 EXON Missense_D48V exm10345 1 6761808 [A/G] NM_018198 DNAJC11 EXON Missense_L18S exm2252762 1 6814758 [T/C] exm10350 1 6880304 [A/G] NM_015215,NM_001195563,NM_001242701,NR_038934 CAMTA1,CAMTA1,CAMTA1,CAMTA1 EXON Missense_I37V,Missense_I37V,Missense_I37V,Silent exm2264795 1 7088855 [A/G] NM_015215 CAMTA1 Silent exm-rs970973 1 7202190 [T/C] NM_015215 CAMTA1 Silent exm2268862 1 7278011 [T/C] NM_015215 CAMTA1 Silent exm2268649 1 7584814 [T/G] NM_015215 CAMTA1 Silent exm10368 1 7700514 [A/G] NM_015215 CAMTA1 EXON Missense_G189S exm10390 1 7723593 [A/G] NM_015215 CAMTA1 EXON Missense_K329R exm10391 1 7723607 [A/G] NM_015215 CAMTA1 EXON Missense_V334M exm10398 1 7723751 [T/G] NM_015215 CAMTA1 EXON Missense_S382A exm10399 1 7723754 [A/G] NM_015215 CAMTA1 EXON Missense_G383S exm10401 1 7723796 [A/G] NM_015215 CAMTA1 EXON Missense_A397T exm10407 1 7723910 [A/G] NM_015215 CAMTA1 EXON Missense_V435M exm10416 1 7723991 [A/G] NM_015215 CAMTA1 EXON Missense_E462K exm1899859 1 7724045 [A/G] NM_015215 CAMTA1 EXON Missense_T480A exm10421 1 7724105 [T/G] NM_015215 CAMTA1 EXON Missense_G500C exm10423 1 7724123 [A/G] NM_015215 CAMTA1 EXON Missense_E506K exm10429 1 7724166 [A/G] NM_015215 CAMTA1 EXON Missense_R520Q exm10443 1 7724513 [A/G] NM_015215 CAMTA1 EXON Missense_S636G exm10446 1 7724562 [T/C] NM_015215 CAMTA1 EXON Missense_S652L exm1899910 1 7724605 [C/G] NM_015215 CAMTA1 EXON Missense_I666M exm10452 1 7724697 [T/C] NM_015215 CAMTA1 EXON Missense_A697V exm10454 1 7724727 [C/G] NM_015215 CAMTA1 EXON Missense_S707C exm10458 1 7724804 [A/G] NM_015215 CAMTA1 EXON Missense_V733I exm10476 1 7725114 [T/C] NM_015215 CAMTA1 EXON Missense_S836L exm10480 1 7725170 [A/G] NM_015215 CAMTA1 EXON Missense_A855T exm10496 1 7737755 [T/C] NM_015215 CAMTA1 EXON Missense_T959M exm10502 1 7792520 [A/G] NM_015215 CAMTA1 EXON Missense_R976K exm10515 1 7796504 [A/G] NM_015215 CAMTA1 EXON Missense_H1056R exm10535 1 7797503 [C/G] NM_015215 CAMTA1 EXON Missense_N1177K exm10538 1 7797534 [T/C] NM_015215 CAMTA1 EXON Missense_P1188S exm10541 1 7797570 [A/G] NM_015215 CAMTA1 EXON Missense_E1200K exm10543 1 7797598 [A/G] NM_015215 CAMTA1 EXON Missense_K1209R exm10544 1 7797619 [A/G] NM_015215 CAMTA1 EXON Missense_S1216N exm10545 1 7797625 [A/C] NM_015215 CAMTA1 EXON Missense_N1218T exm10547 1 7797627 [C/G] NM_015215 CAMTA1 EXON Missense_P1219A exm10557 1 7798367 [T/C] NM_015215 CAMTA1 EXON Missense_T1336I exm10562 1 7798493 [A/G] NM_015215 CAMTA1 EXON Missense_R1378H exm10563 1 7798520 [A/G] NM_015215 CAMTA1 EXON Missense_G1387D exm10575 1 7806012 [T/C] NM_015215 CAMTA1 EXON Missense_A1493V exm10586 1 7811361 [A/G] NM_015215 CAMTA1 EXON Missense_V1598M exm10611 1 7838228 [T/C] NM_004781 VAMP3 EXON Synonymous_I94I exm10623 1 7844989 [T/G] NM_016831 PER3 EXON Missense_A18S exm10627 1 7845505 [A/C] NM_016831 PER3 EXON Missense_Q45K exm10643 1 7846795 [T/G] NM_016831 PER3 EXON Missense_F97V exm10648 1 7846853 [A/G] NM_016831 PER3 EXON Missense_E116G exm10658 1 7848255 [A/G] NM_016831 PER3 EXON Missense_A181T exm10659 1 7848256 [T/C] NM_016831 PER3 EXON Missense_A181V exm10681 1 7863183 [T/C] NM_016831 PER3 EXON Missense_R316C exm1908576 1 7863826 [T/A] NM_016831 PER3 EXON Missense_I351L exm1908580 1 7863869 [A/G] NM_016831 PER3 EXON Missense_R365Q exm1908585 1 7863892 [T/C] NM_016831 PER3 EXON Missense_R373W exm10695 1 7869953 [G/C] NM_016831 PER3 EXON Missense_P414A exm10696 1 7869960 [A/G] NM_016831 PER3 EXON Missense_H416R exm10698 1 7869968 [A/G] NM_016831 PER3 EXON Missense_V419M exm10706 1 7870517 [A/G] NM_016831 PER3 EXON Missense_Y463C exm10708 1 7870570 [A/G] NM_016831 PER3 EXON Missense_M481V exm10713 1 7870606 [T/C] NM_016831 PER3 EXON Missense_R493C exm2264796 1 7877488 [A/G] NM_016831 PER3 Silent exm-rs2797685 1 7879063 [T/C] NM_016831 PER3 Silent exm1908713 1 7879377 [A/G] NM_016831 PER3 EXON Missense_T511A exm10722 1 7879401 [A/G] NM_016831 PER3 EXON Missense_T519A exm10732 1 7880251 [G/C] NM_016831 PER3 EXON Missense_E571Q exm10746 1 7880683 [T/G] NM_016831 PER3 EXON Missense_V639G exm10759 1 7886750 [T/C] NM_016831 PER3 EXON Missense_A715V exm10762 1 7887234 [T/C] NM_016831 PER3 EXON Missense_R741W exm10764 1 7887262 [A/G] NM_016831 PER3 EXON Missense_S750N exm10780 1 7887493 [T/C] NM_016831 PER3 EXON Missense_L827P exm10782 1 7887499 [T/G] NM_016831 PER3 EXON Missense_L829W exm10783 1 7887504 [A/G] NM_016831 PER3 EXON Missense_E831K exm10785 1 7887516 [T/C] NM_016831 PER3 EXON Missense_P835S exm10792 1 7887573 [C/G] NM_016831 PER3 EXON Missense_D854H exm10799 1 7887685 [T/C] NM_016831 PER3 EXON Missense_L891P exm1908741 1 7887769 [T/C] NM_016831 PER3 EXON Missense_S919L exm10815 1 7889984 [T/C] NM_016831 PER3 EXON Missense_H984Y exm10829 1 7890107 [A/G] NM_016831 PER3 EXON Missense_T1025A exm10831 1 7890117 [T/C] NM_016831 PER3 EXON Missense_M1028T exm10832 1 7890123 [T/C] NM_016831 PER3 EXON Missense_L1030S exm10833 1 7890135 [A/G] NM_016831 PER3 EXON Missense_R1034K exm10836 1 7890153 [T/C] NM_016831 PER3 EXON Missense_T1040I exm10838 1 7890179 [T/C] NM_016831 PER3 EXON Missense_P1049S exm10839 1 7890188 [A/G] NM_016831 PER3 EXON Missense_E1052K exm10846 1 7895841 [A/G] NM_016831 PER3 EXON Missense_I1069M exm10847 1 7895864 [T/C] NM_016831 PER3 EXON Missense_S1077F exm10854 1 7897133 [A/G] NM_016831 PER3 EXON Missense_H1149R exm10855 1 7897136 [T/G] NM_016831 PER3 EXON Missense_G1150V exm10857 1 7897189 [A/G] NM_016831 PER3 EXON Missense_T1168A exm10859 1 7902736 [G/C] NM_016831 PER3 EXON Missense_C1176S exm10865 1 7902777 [A/G] NM_016831 PER3 EXON Missense_T1190A exm10872 1 7907918 [T/G] NM_006786,NM_021995 UTS2,UTS2 EXON Missense_P95T,Missense_P110T exm10873 1 7907931 [T/G] NM_006786,NM_021995 UTS2,UTS2 EXON Missense_F90L,Missense_F105L exm10875 1 7909737 [T/C] NM_006786,NM_021995 UTS2,UTS2 EXON Missense_S74N,Missense_S89N exm10887 1 7912975 [A/G] NM_006786,NM_021995 UTS2,UTS2 EXON Missense_S30F,Missense_S45F exm10891 1 7913029 [A/G] NM_006786,NM_021995 UTS2,UTS2 EXON Missense_I12T,Silent exm10894 1 7913406 [T/G] NM_021995 UTS2 EXON Missense_N29T exm10896 1 7913445 [T/C] NM_021995 UTS2 EXON Missense_R16Q exm2264984 1 7980338 [A/G] NM_001561 TNFRSF9 EXON Silent exm10911 1 7993317 [G/C] NM_001561 TNFRSF9 EXON Missense_T195R exm10915 1 7995090 [T/G] NM_001561 TNFRSF9 EXON Missense_A176D exm10916 1 7995111 [A/G] NM_001561 TNFRSF9 EXON Missense_A169V exm10918 1 7995117 [A/G] NM_001561 TNFRSF9 EXON Missense_P167L exm10928 1 7998254 [T/G] NM_001561 TNFRSF9 EXON Missense_K115N exm10929 1 7998277 [G/C] NM_001561 TNFRSF9 EXON Missense_Q108E exm10934 1 7998390 [T/C] NM_001561 TNFRSF9 EXON Missense_G70D exm10937 1 7998823 [T/C] NM_001561 TNFRSF9 EXON Missense_A56T exm-rs35675666 1 8021973 [T/G] NM_007262,NM_001123377 PARK7,PARK7 Silent,Silent exm10955 1 8025459 [A/G] NM_007262,NM_001123377 PARK7,PARK7 EXON Missense_A56T,Missense_A56T exm10965 1 8030994 [A/G] NM_007262,NM_001123377 PARK7,PARK7 EXON Missense_R98Q,Missense_R98Q exm1909227 1 8031000 [C/G] NM_007262,NM_001123377 PARK7,PARK7 EXON Missense_G100A,Missense_G100A exm10972 1 8044990 [A/C] NM_007262,NM_001123377 PARK7,PARK7 EXON Missense_D149A,Missense_D149A exm10979 1 8045079 [A/G] NM_007262,NM_001123377 PARK7,PARK7 EXON Missense_A179T,Missense_A179T exm-rs12727642 1 8046672 [A/C] exm10985 1 8073398 [T/C] NM_018948 ERRFI1 EXON Missense_A421T exm10989 1 8073461 [A/G] NM_018948 ERRFI1 EXON Nonsense_R400X exm10999 1 8073700 [A/G] NM_018948 ERRFI1 EXON Missense_P320L exm11005 1 8073830 [T/C] NM_018948 ERRFI1 EXON Missense_D277N exm11011 1 8073919 [T/C] NM_018948 ERRFI1 EXON Missense_R247K exm11013 1 8073925 [T/C] NM_018948 ERRFI1 EXON Missense_R245K exm11015 1 8073943 [A/G] NM_018948 ERRFI1 EXON Missense_P239L exm11021 1 8074094 [A/G] NM_018948 ERRFI1 EXON Missense_S189P exm11027 1 8074187 [T/G] NM_018948 ERRFI1 EXON Missense_I158L exm11035 1 8074334 [T/C] NM_018948 ERRFI1 EXON Missense_D109N exm11051 1 8075618 [T/C] NM_018948 ERRFI1 EXON Missense_H21R exm2275212 1 8384785 [T/C] NM_001080397 SLC45A1 EXON Synonymous_L132L exm11086 1 8385397 [A/G] NM_001080397 SLC45A1 EXON Missense_R146Q exm11100 1 8386006 [C/G] NM_001080397 SLC45A1 EXON Missense_A207P exm11101 1 8386007 [T/C] NM_001080397 SLC45A1 EXON Missense_A207V exm11103 1 8386016 [T/C] NM_001080397 SLC45A1 EXON Missense_A210V exm11141 1 8390731 [A/G] NM_001080397 SLC45A1 EXON Missense_G393D exm11145 1 8390781 [A/G] NM_001080397 SLC45A1 EXON Missense_G410S exm11163 1 8395521 [A/G] NM_001080397 SLC45A1 EXON Missense_V490M exm11166 1 8395560 [T/G] NM_001080397 SLC45A1 EXON Missense_A503S exm11185 1 8397995 [A/G] NM_001080397 SLC45A1 EXON Missense_V573M exm11203 1 8403835 [A/G] NM_001080397 SLC45A1 EXON Missense_R670Q exm11205 1 8403840 [A/G] NM_001080397 SLC45A1 EXON Missense_G672S exm11207 1 8403906 [G/C] NM_001080397 SLC45A1 EXON Missense_V694L exm11225 1 8415618 [T/G] NM_012102,NM_001042682,NM_001042681 RERE,RERE,RERE EXON Missense_P1510T,Missense_P956T,Missense_P1510T exm11230 1 8416160 [T/C] NM_012102,NM_001042682,NM_001042681 RERE,RERE,RERE EXON Missense_G1496S,Missense_G942S,Missense_G1496S exm11297 1 8419891 [T/C] NM_012102,NM_001042682,NM_001042681 RERE,RERE,RERE EXON Missense_R1184Q,Missense_R630Q,Missense_R1184Q exm1912798 1 8420270 [A/G] NM_012102,NM_001042682,NM_001042681 RERE,RERE,RERE EXON Synonymous_D1099D,Synonymous_D545D,Synonymous_D1099D exm11354 1 8421186 [A/G] NM_012102,NM_001042682,NM_001042681 RERE,RERE,RERE EXON Missense_P794L,Missense_P240L,Missense_P794L exm11374 1 8421875 [A/G] NM_012102,NM_001042682,NM_001042681 RERE,RERE,RERE EXON Missense_A655V,Missense_A101V,Missense_A655V exm11375 1 8421890 [T/G] NM_012102,NM_001042682,NM_001042681 RERE,RERE,RERE EXON Missense_Q650P,Missense_Q96P,Missense_Q650P exm11380 1 8422837 [T/C] NM_012102,NM_001042682,NM_001042681 RERE,RERE,RERE EXON Missense_N603S,Missense_N49S,Missense_N603S exm11420 1 8482797 [T/C] NM_012102,NM_001042682,NM_001042681 RERE,RERE,RERE EXON Missense_N425S,Silent,Missense_N425S exm11427 1 8526071 [T/C] NM_012102,NM_001042681 RERE,RERE EXON Missense_G373S,Missense_G373S exm-rs4908760 1 8526142 [A/G] NM_012102,NM_001042681 RERE,RERE Silent,Silent exm2233884 1 8555123 [T/G] NM_012102,NM_001042681 RERE,RERE EXON Synonymous_T368T,Synonymous_T368T exm11445 1 8616562 [T/C] NM_012102,NM_001042681 RERE,RERE EXON Missense_V233I,Missense_V233I exm11462 1 8716118 [A/G] NM_012102,NM_001042681 RERE,RERE EXON Missense_P80L,Missense_P80L exm-rs12025126 1 8759554 [T/C] NM_012102,NM_001042681 RERE,RERE Silent,Silent exm11492 1 8923356 [A/G] NM_001201483,NM_001428 ENO1,ENO1 EXON Missense_R279C,Missense_R372C exm11493 1 8923382 [T/C] NM_001201483,NM_001428 ENO1,ENO1 EXON Missense_N270S,Missense_N363S exm2253582 1 8924042 [T/G] NM_001201483,NM_001428 ENO1,ENO1 EXON Synonymous_P232P,Synonymous_P325P exm11509 1 8925482 [T/C] NM_001201483,NM_001428 ENO1,ENO1 EXON Missense_G150S,Missense_G243S exm11510 1 8925485 [T/C] NM_001201483,NM_001428 ENO1,ENO1 EXON Missense_I149V,Missense_I242V exm11527 1 8927268 [T/C] NM_001201483,NM_001428 ENO1,ENO1 EXON Missense_V25I,Missense_V118I exm11535 1 8930542 [T/C] NM_001201483,NM_001428 ENO1,ENO1 EXON Silent,Missense_N70S exm11539 1 8931964 [T/C] NM_001428 ENO1 EXON Missense_R56H exm11548 1 9009352 [A/T] NM_001270500,NM_001270502,NM_001215,NM_001270501 CA6,CA6,CA6,CA6 EXON Missense_Q37L,Silent,Missense_Q37L,Silent exm11550 1 9009377 [G/C] NM_001270500,NM_001270502,NM_001215,NM_001270501 CA6,CA6,CA6,CA6 EXON Missense_Q45H,Silent,Missense_Q45H,Silent exm11552 1 9009406 [T/C] NM_001270500,NM_001270502,NM_001215,NM_001270501 CA6,CA6,CA6,CA6 EXON Missense_T55M,Silent,Missense_T55M,Silent exm11553 1 9009414 [T/C] NM_001270500,NM_001270502,NM_001215,NM_001270501 CA6,CA6,CA6,CA6 EXON Missense_R58W,Silent,Missense_R58W,Silent exm11555 1 9009444 [A/C] NM_001270500,NM_001270502,NM_001215,NM_001270501 CA6,CA6,CA6,CA6 EXON Missense_M68L,Silent,Missense_M68L,Silent exm11556 1 9009451 [G/C] NM_001270500,NM_001270502,NM_001215,NM_001270501 CA6,CA6,CA6,CA6 EXON Missense_G70A,Silent,Missense_G70A,Silent exm11574 1 9017204 [A/G] NM_001270500,NM_001270502,NM_001215,NM_001270501 CA6,CA6,CA6,CA6 EXON Missense_S90G,Silent,Missense_S90G,Missense_S30G exm11605 1 9030959 [A/C] NM_001270500,NM_001270502,NM_001215,NM_001270501 CA6,CA6,CA6,CA6 EXON Missense_R255S,Missense_R127S,Missense_R255S,Missense_R195S exm11606 1 9030964 [T/C] NM_001270500,NM_001270502,NM_001215,NM_001270501 CA6,CA6,CA6,CA6 EXON Synonymous_N256N,Synonymous_N128N,Synonymous_N256N,Synonymous_N196N exm2253595 1 9030964 [T/C] NM_001270500,NM_001270502,NM_001215,NM_001270501 CA6,CA6,CA6,CA6 EXON Synonymous_N256N,Synonymous_N128N,Synonymous_N256N,Synonymous_N196N exm11608 1 9031032 [T/C] NM_001270500,NM_001270502,NM_001215,NM_001270501 CA6,CA6,CA6,CA6 EXON Missense_P279L,Missense_P151L,Missense_P279L,Missense_P219L exm11617 1 9034717 [A/G] NM_001270502,NM_001215,NM_001270501 CA6,CA6,CA6 EXON Missense_H166R,Missense_H294R,Missense_H234R exm11626 1 9063478 [A/T] NM_207420 SLC2A7 EXON Missense_F474I exm11627 1 9063490 [T/G] NM_207420 SLC2A7 EXON Missense_K470Q exm11629 1 9063541 [T/C] NM_207420 SLC2A7 EXON Missense_G453R exm11630 1 9063578 [T/C] NM_207420 SLC2A7 Silent exm1918906 1 9064836 [A/G] NM_207420 SLC2A7 EXON Missense_I432T exm1918915 1 9067387 [C/G] NM_207420 SLC2A7 EXON Missense_G392R exm11649 1 9067417 [T/C] NM_207420 SLC2A7 EXON Missense_G382S exm11651 1 9067432 [T/C] NM_207420 SLC2A7 EXON Missense_E377K exm2260823 1 9068386 [A/G] NM_207420 SLC2A7 Silent exm11665 1 9073591 [T/A] NM_207420 SLC2A7 EXON Missense_I336N exm1918925 1 9073675 [T/G] NM_207420 SLC2A7 EXON Missense_T308N exm11679 1 9074778 [T/C] NM_207420 SLC2A7 EXON Missense_V289M exm11686 1 9074861 [T/C] NM_207420 SLC2A7 EXON Missense_R261Q exm11687 1 9074862 [A/G] NM_207420 SLC2A7 EXON Missense_R261W exm11692 1 9074903 [A/G] NM_207420 SLC2A7 EXON Missense_T247M exm11697 1 9075188 [T/C] NM_207420 SLC2A7 EXON Missense_T235A exm11699 1 9075221 [A/G] NM_207420 SLC2A7 EXON Missense_R224C exm11706 1 9079301 [T/C] NM_207420 SLC2A7 EXON Missense_V135I exm1918946 1 9079319 [A/T] NM_207420 SLC2A7 EXON Nonsense_K129X exm11707 1 9079349 [T/C] NM_207420 SLC2A7 EXON Missense_A119T exm11716 1 9083094 [T/G] NM_207420 SLC2A7 EXON Missense_A65E exm11717 1 9083100 [T/C] NM_207420 SLC2A7 EXON Missense_R63Q exm11721 1 9083112 [T/G] NM_207420 SLC2A7 EXON Missense_T59N exm11731 1 9086388 [A/G] NM_207420 SLC2A7 EXON Missense_A6V exm2268650 1 9095610 [T/C] exm2233960 1 9097656 [T/A] NM_003039 SLC2A5 EXON Missense_S499T exm11736 1 9097696 [G/C] NM_003039 SLC2A5 EXON Nonsense_Y485X exm11746 1 9097812 [T/C] NM_003039 SLC2A5 EXON Missense_V447M exm11750 1 9097966 [A/G] NM_003039 SLC2A5 EXON Missense_P431L exm11752 1 9097982 [T/C] NM_003039 SLC2A5 EXON Missense_V426M exm11759 1 9098072 [T/C] NM_003039 SLC2A5 EXON Missense_A396T exm11763 1 9098532 [T/C] NM_003039 SLC2A5 EXON Missense_V378I exm11769 1 9099643 [T/C] NM_003039 SLC2A5 EXON Missense_G322R exm11777 1 9099926 [A/G] NM_003039 SLC2A5 EXON Missense_S273L exm11779 1 9099957 [T/C] NM_003039 SLC2A5 EXON Missense_I263V exm11780 1 9099966 [G/C] NM_003039 SLC2A5 EXON Missense_A260P exm11788 1 9101709 [T/C] NM_003039,NM_001135585 SLC2A5,SLC2A5 EXON Silent,Missense_G236R exm11789 1 9101712 [A/T] NM_003039,NM_001135585 SLC2A5,SLC2A5 EXON Silent,Missense_L235M exm11794 1 9101826 [A/G] NM_003039,NM_001135585 SLC2A5,SLC2A5 EXON Silent,Missense_R197W exm11797 1 9101867 [T/C] NM_003039,NM_001135585 SLC2A5,SLC2A5 EXON Missense_R183Q,Missense_R183Q exm11814 1 9107759 [T/C] NM_003039,NM_001135585 SLC2A5,SLC2A5 EXON Missense_I110V,Missense_I110V exm1921670 1 9118247 [A/C] NM_003039,NM_001135585 SLC2A5,SLC2A5 EXON Nonsense_Y32X,Nonsense_Y32X exm11822 1 9118297 [T/C] NM_003039,NM_001135585 SLC2A5,SLC2A5 EXON Missense_V16M,Missense_V16M exm11823 1 9118300 [C/G] NM_003039,NM_001135585 SLC2A5,SLC2A5 EXON Missense_L15V,Missense_L15V exm11839 1 9164626 [T/C] NM_024980 GPR157 EXON Missense_R287Q exm11852 1 9165564 [A/G] NM_024980 GPR157 EXON Missense_P258L exm1925702 1 9165579 [A/G] NM_024980 GPR157 EXON Missense_P253L exm11865 1 9165685 [A/G] NM_024980 GPR157 EXON Missense_R218C exm11870 1 9165726 [C/G] NM_024980 GPR157 EXON Missense_S204C exm11874 1 9171336 [A/G] NM_024980 GPR157 EXON Missense_A199V exm2233969 1 9171355 [A/G] NM_024980 GPR157 EXON Missense_R193W exm-rs2239560 1 9304731 [A/G] NM_004285 H6PD Silent exm2275418 1 9305309 [A/G] NM_004285 H6PD EXON Missense_S106G exm11924 1 9305393 [T/C] NM_004285 H6PD EXON Missense_R134W exm11925 1 9305415 [A/G] NM_004285 H6PD EXON Missense_Y141C exm11927 1 9305445 [A/C] NM_004285 H6PD EXON Missense_D151A exm11932 1 9305532 [A/G] NM_004285 H6PD EXON Missense_H180R exm11938 1 9307032 [T/C] NM_004285 H6PD EXON Missense_A212V exm11941 1 9307061 [T/C] NM_004285 H6PD EXON Missense_R222C exm11943 1 9307076 [A/G] NM_004285 H6PD EXON Missense_G227S exm11944 1 9307089 [A/G] NM_004285 H6PD EXON Missense_R231Q exm11945 1 9307103 [T/C] NM_004285 H6PD EXON Missense_R236W exm11951 1 9322120 [T/C] NM_004285 H6PD EXON Missense_R250C exm11954 1 9322153 [T/C] NM_004285 H6PD EXON Missense_R261C exm11966 1 9322268 [T/C] NM_004285 H6PD EXON Missense_A299V exm11967 1 9322274 [A/G] NM_004285 H6PD EXON Missense_R301Q exm11968 1 9322289 [A/G] NM_004285 H6PD EXON Missense_G306D exm1931537 1 9322334 [A/G] NM_004285 H6PD EXON Missense_R321H exm11976 1 9322373 [T/C] NM_004285 H6PD EXON Missense_T334M exm11988 1 9323657 [A/G] NM_004285 H6PD EXON Missense_A369T exm11992 1 9323715 [T/C] NM_004285 H6PD EXON Missense_A388V exm11995 1 9323730 [T/G] NM_004285 H6PD EXON Missense_C393F exm11996 1 9323739 [A/G] NM_004285 H6PD EXON Missense_R396Q exm12005 1 9323862 [A/G] NM_004285 H6PD EXON Missense_R437H exm12008 1 9323885 [A/G] NM_004285 H6PD EXON Missense_D445N exm12010 1 9323894 [A/G] NM_004285 H6PD EXON Missense_A448T exm12011 1 9323895 [T/C] NM_004285 H6PD EXON Missense_A448V exm12012 1 9323910 [A/G] NM_004285 H6PD EXON Missense_R453Q exm12013 1 9323916 [A/G] NM_004285 H6PD EXON Missense_R455Q exm12015 1 9323921 [A/G] NM_004285 H6PD EXON Missense_A457T exm12016 1 9323930 [A/G] NM_004285 H6PD EXON Missense_V460I exm12021 1 9323958 [A/G] NM_004285 H6PD EXON Missense_R469Q exm12023 1 9324002 [A/G] NM_004285 H6PD EXON Missense_N484D exm1931546 1 9324075 [A/G] NM_004285 H6PD EXON Missense_G508D exm12031 1 9324078 [A/G] NM_004285 H6PD EXON Missense_R509H exm12034 1 9324104 [A/G] NM_004285 H6PD EXON Missense_G518S exm12035 1 9324107 [T/C] NM_004285 H6PD EXON Missense_R519W exm12036 1 9324108 [A/G] NM_004285 H6PD EXON Missense_R519Q exm12046 1 9324213 [T/C] NM_004285 H6PD EXON Missense_P554L exm12048 1 9324233 [A/G] NM_004285 H6PD EXON Missense_E561K exm12052 1 9324275 [A/G] NM_004285 H6PD EXON Missense_A575T exm12054 1 9324282 [A/G] NM_004285 H6PD EXON Missense_R577Q exm12056 1 9324294 [A/G] NM_004285 H6PD EXON Missense_R581H exm12057 1 9324300 [A/G] NM_004285 H6PD EXON Missense_G583D exm12065 1 9324385 [A/G] NM_004285 H6PD EXON Nonsense_W611X exm1931550 1 9324486 [A/G] NM_004285 H6PD EXON Missense_R645Q exm12083 1 9324542 [A/G] NM_004285 H6PD EXON Missense_A664T exm12089 1 9324590 [G/C] NM_004285 H6PD EXON Missense_L680V exm12096 1 9324684 [A/G] NM_004285 H6PD EXON Missense_D711G exm12101 1 9324716 [T/C] NM_004285 H6PD EXON Missense_P722S exm12109 1 9324807 [A/G] NM_004285 H6PD EXON Missense_R752H exm1931555 1 9324819 [T/C] NM_004285 H6PD EXON Missense_T756M exm12112 1 9324876 [T/C] NM_004285 H6PD EXON Missense_P775L exm12119 1 9416003 [T/C] NM_025106 SPSB1 EXON Missense_T18M exm1939653 1 9427508 [T/C] NM_025106 SPSB1 EXON Synonymous_P232P exm2264798 1 9579964 [A/G] exm12183 1 9640058 [A/G] NM_032315 SLC25A33 EXON Missense_V177I exm12190 1 9640253 [A/C] NM_032315 SLC25A33 EXON Missense_L242I exm12193 1 9640291 [T/C] NM_032315 SLC25A33 EXON Synonymous_H254H exm12212 1 9655965 [T/C] NM_001010866,NM_001130924 TMEM201,TMEM201 EXON Missense_T44M,Missense_T44M exm12224 1 9657005 [T/C] NM_001010866,NM_001130924 TMEM201,TMEM201 EXON Missense_S108L,Missense_S108L exm12227 1 9657037 [G/C] NM_001010866,NM_001130924 TMEM201,TMEM201 EXON Missense_L119V,Missense_L119V exm12231 1 9657103 [T/C] NM_001010866,NM_001130924 TMEM201,TMEM201 EXON Missense_R141C,Missense_R141C exm12238 1 9658519 [A/G] NM_001010866,NM_001130924 TMEM201,TMEM201 EXON Missense_E148K,Missense_E148K exm12242 1 9658657 [T/C] NM_001010866,NM_001130924 TMEM201,TMEM201 EXON Missense_R194W,Missense_R194W exm12249 1 9661175 [A/G] NM_001010866,NM_001130924 TMEM201,TMEM201 EXON Missense_A207T,Missense_A207T exm12259 1 9661332 [A/C] NM_001010866,NM_001130924 TMEM201,TMEM201 EXON Missense_T259K,Missense_T259K exm12269 1 9661454 [A/G] NM_001010866,NM_001130924 TMEM201,TMEM201 EXON Missense_V300I,Missense_V300I exm2234040 1 9661506 [A/G] NM_001010866,NM_001130924 TMEM201,TMEM201 EXON Missense_R317H,Missense_R317H exm12288 1 9670738 [A/C] NM_001130924 TMEM201 EXON Missense_P547H exm12290 1 9670834 [T/C] NM_001130924 TMEM201 EXON Missense_P579L exm12292 1 9671823 [A/C] NM_001130924 TMEM201 EXON Missense_K593T exm12324 1 9770571 [A/G] NM_005026 PIK3CD EXON Missense_V20I exm12334 1 9775972 [A/T] NM_005026 PIK3CD EXON Missense_F146I exm12335 1 9775985 [T/C] NM_005026 PIK3CD EXON Missense_A150V exm12340 1 9776134 [A/G] NM_005026 PIK3CD EXON Missense_E200K exm2234051 1 9777020 [A/G] NM_005026 PIK3CD EXON Missense_I262V exm12354 1 9777122 [A/G] NM_005026 PIK3CD EXON Missense_V296I exm12367 1 9778804 [T/C] NM_005026 PIK3CD EXON Missense_V358A exm12371 1 9778839 [A/G] NM_005026 PIK3CD EXON Missense_V370M exm12381 1 9780196 [A/G] NM_005026 PIK3CD EXON Missense_T456A exm12399 1 9780836 [T/G] NM_005026 PIK3CD EXON Missense_S520A exm12405 1 9781272 [C/G] NM_005026 PIK3CD EXON Missense_G593R exm12430 1 9782381 [A/G] NM_005026 PIK3CD EXON Missense_G772S exm2254097 1 9784435 [T/C] NM_005026 PIK3CD EXON Synonymous_H940H exm12459 1 9784870 [A/G] NM_005026 PIK3CD EXON Missense_G958D exm2254098 1 9784916 [T/C] NM_005026 PIK3CD EXON Synonymous_L973L exm12471 1 9787083 [A/G] NM_005026 PIK3CD EXON Synonymous_V1038V exm2254099 1 9787083 [A/G] NM_005026 PIK3CD EXON Synonymous_V1038V exm12484 1 9790653 [T/G] NM_014944,NM_001009566 CLSTN1,CLSTN1 EXON Missense_S943R,Missense_S953R exm12486 1 9790659 [C/G] NM_014944,NM_001009566 CLSTN1,CLSTN1 EXON Missense_E941D,Missense_E951D exm12487 1 9790660 [T/C] NM_014944,NM_001009566 CLSTN1,CLSTN1 EXON Missense_E941G,Missense_E951G exm12488 1 9790703 [T/C] NM_014944,NM_001009566 CLSTN1,CLSTN1 EXON Missense_E927K,Missense_E937K exm12501 1 9791355 [T/C] NM_014944,NM_001009566 CLSTN1,CLSTN1 EXON Missense_H876R,Missense_H886R exm12528 1 9794087 [A/G] NM_014944,NM_001009566 CLSTN1,CLSTN1 EXON Missense_R732C,Missense_R742C exm12532 1 9794165 [T/C] NM_014944,NM_001009566 CLSTN1,CLSTN1 EXON Missense_D706N,Missense_D716N exm2254100 1 9795058 [A/G] NM_014944,NM_001009566 CLSTN1,CLSTN1 EXON Synonymous_S676S,Synonymous_S686S exm12548 1 9795165 [T/C] NM_014944,NM_001009566 CLSTN1,CLSTN1 EXON Missense_E641K,Missense_E651K exm12561 1 9795591 [A/G] NM_014944,NM_001009566 CLSTN1,CLSTN1 EXON Missense_S596L,Missense_S606L exm1956722 1 9795602 [T/C] NM_014944,NM_001009566 CLSTN1,CLSTN1 EXON Missense_M592I,Missense_M602I exm12573 1 9796029 [A/C] NM_014944,NM_001009566 CLSTN1,CLSTN1 EXON Missense_A540S,Missense_A550S exm12575 1 9796038 [T/C] NM_014944,NM_001009566 CLSTN1,CLSTN1 EXON Missense_G537R,Missense_G547R exm12577 1 9796064 [T/C] NM_014944,NM_001009566 CLSTN1,CLSTN1 EXON Missense_N528S,Missense_N538S exm12583 1 9801233 [T/C] NM_014944,NM_001009566 CLSTN1,CLSTN1 EXON Missense_E470K,Missense_E480K exm12596 1 9804021 [T/C] NM_014944,NM_001009566 CLSTN1,CLSTN1 EXON Missense_R416Q,Missense_R426Q exm12601 1 9804055 [A/G] NM_014944,NM_001009566 CLSTN1,CLSTN1 EXON Missense_R405W,Missense_R415W exm12604 1 9804525 [T/C] NM_014944,NM_001009566 CLSTN1,CLSTN1 EXON Missense_I378V,Missense_I388V exm12610 1 9804623 [T/C] NM_014944,NM_001009566 CLSTN1,CLSTN1 EXON Missense_N345S,Missense_N355S exm12612 1 9804630 [T/C] NM_014944,NM_001009566 CLSTN1,CLSTN1 EXON Missense_T343A,Missense_T353A exm12616 1 9804693 [T/C] NM_014944,NM_001009566 CLSTN1,CLSTN1 EXON Missense_A322T,Missense_A332T exm12638 1 9811618 [T/C] NM_014944,NM_001009566 CLSTN1,CLSTN1 EXON Missense_V178M,Missense_V188M exm12640 1 9811653 [T/C] NM_014944,NM_001009566 CLSTN1,CLSTN1 EXON Missense_G166E,Missense_G176E exm12650 1 9815287 [T/C] NM_014944,NM_001009566 CLSTN1,CLSTN1 EXON Missense_V99I,Missense_V109I exm12658 1 9833335 [T/A] NM_014944,NM_001009566 CLSTN1,CLSTN1 EXON Missense_F70Y,Missense_F70Y exm12665 1 9833451 [A/G] NM_014944,NM_001009566 CLSTN1,CLSTN1 EXON Synonymous_V31V,Synonymous_V31V exm1958443 1 9910795 [A/G] NM_020248,NM_001012329 CTNNBIP1,CTNNBIP1 EXON Missense_T76M,Missense_T76M exm12673 1 9931246 [A/C] NM_020248,NM_001012329 CTNNBIP1,CTNNBIP1 EXON Missense_Q62H,Missense_Q62H exm2254135 1 9931312 [A/G] NM_020248,NM_001012329 CTNNBIP1,CTNNBIP1 EXON Synonymous_F40F,Synonymous_F40F exm12680 1 9932027 [A/G] NM_020248,NM_001012329 CTNNBIP1,CTNNBIP1 EXON Synonymous_N32N,Synonymous_N32N exm12683 1 9932101 [T/C] NM_020248,NM_001012329 CTNNBIP1,CTNNBIP1 EXON Missense_G8R,Missense_G8R exm12689 1 9991952 [A/G] NM_032368 LZIC EXON Missense_L171F exm12694 1 9992024 [G/C] NM_032368 LZIC EXON Missense_A147P exm12699 1 9994845 [T/C] NM_032368 LZIC EXON Missense_G104D exm1958934 1 9996684 [T/C] NM_032368 LZIC EXON Silent exm12728 1 10042508 [A/G] NM_022787 NMNAT1 EXON Missense_I197V exm12738 1 10042683 [A/G] NM_022787 NMNAT1 EXON Missense_S255N exm12742 1 10042688 [A/G] NM_022787 NMNAT1 EXON Missense_E257K exm12743 1 10042746 [A/C] NM_022787 NMNAT1 EXON Missense_E276A exm12751 1 10068261 [A/G] NM_052960 RBP7 EXON Missense_T95A exm12753 1 10068312 [A/G] NM_052960 RBP7 EXON Missense_E112K exm12768 1 10155522 [T/G] NM_001105562,NM_006048 UBE4B,UBE4B EXON Missense_V72G,Missense_V72G exm12770 1 10155596 [T/G] NM_001105562,NM_006048 UBE4B,UBE4B EXON Missense_S97A,Missense_S97A exm12781 1 10163148 [A/G] NM_001105562,NM_006048 UBE4B,UBE4B EXON Missense_E193G,Missense_E193G exm12789 1 10165771 [A/G] NM_001105562,NM_006048 UBE4B,UBE4B EXON Missense_V260M,Missense_V260M exm2273610 1 10166271 [T/C] NM_001105562,NM_006048 UBE4B,UBE4B EXON Missense_P276S,Silent exm12795 1 10166317 [T/C] NM_001105562,NM_006048 UBE4B,UBE4B EXON Missense_P291L,Silent exm12801 1 10166437 [A/G] NM_001105562,NM_006048 UBE4B,UBE4B EXON Missense_R331H,Silent exm12804 1 10166467 [T/C] NM_001105562,NM_006048 UBE4B,UBE4B EXON Missense_S341F,Silent exm12818 1 10177642 [A/G] NM_001105562,NM_006048 UBE4B,UBE4B EXON Missense_E441G,Missense_E312G exm12822 1 10179610 [A/G] NM_001105562,NM_006048 UBE4B,UBE4B EXON Missense_I460V,Missense_I331V exm12835 1 10190575 [C/G] NM_001105562,NM_006048 UBE4B,UBE4B EXON Missense_L571F,Missense_L442F exm12837 1 10190773 [A/G] NM_001105562,NM_006048 UBE4B,UBE4B EXON Missense_V605I,Missense_V476I exm12841 1 10190837 [A/G] NM_001105562,NM_006048 UBE4B,UBE4B EXON Missense_S626N,Missense_S497N exm12849 1 10195185 [A/G] NM_001105562,NM_006048 UBE4B,UBE4B EXON Missense_N722S,Missense_N593S exm12861 1 10207138 [A/G] NM_001105562,NM_006048 UBE4B,UBE4B EXON Missense_A861T,Missense_A732T exm1690130 1 10211395 [A/C] NM_001105562,NM_006048 UBE4B,UBE4B EXON Missense_Q901P,Missense_Q772P exm12901 1 10239569 [C/G] NM_001105562,NM_006048 UBE4B,UBE4B EXON Missense_P1266A,Missense_P1137A exm2264799 1 10285709 [A/G] NM_015074,NM_183416 KIF1B,KIF1B Silent,Silent exm2230658 1 10327447 [A/G] NM_015074,NM_183416 KIF1B,KIF1B EXON Missense_M147V,Missense_M147V exm-rs10492972 1 10353112 [T/C] NM_015074,NM_183416 KIF1B,KIF1B Silent,Silent exm12961 1 10355818 [A/G] NM_015074,NM_183416 KIF1B,KIF1B EXON Missense_G545R,Missense_G545R exm1690377 1 10356960 [T/C] NM_015074,NM_183416 KIF1B,KIF1B EXON Missense_R577C,Missense_R577C exm12964 1 10357048 [T/C] NM_015074,NM_183416 KIF1B,KIF1B EXON Missense_T606I,Missense_T606I exm12973 1 10363309 [T/C] NM_015074,NM_183416 KIF1B,KIF1B EXON Silent,Missense_P689L exm12981 1 10363664 [T/G] NM_015074,NM_183416 KIF1B,KIF1B EXON Silent,Missense_M807I exm12985 1 10363885 [A/G] NM_015074,NM_183416 KIF1B,KIF1B EXON Silent,Missense_G881D exm12988 1 10363929 [A/G] NM_015074,NM_183416 KIF1B,KIF1B EXON Silent,Missense_G896R exm12994 1 10364110 [A/G] NM_015074,NM_183416 KIF1B,KIF1B EXON Silent,Missense_R956Q exm12996 1 10364139 [T/C] NM_015074,NM_183416 KIF1B,KIF1B EXON Silent,Missense_P966S exm12999 1 10364260 [A/G] NM_015074,NM_183416 KIF1B,KIF1B EXON Silent,Missense_E1006G exm13007 1 10364419 [A/C] NM_015074,NM_183416 KIF1B,KIF1B EXON Silent,Missense_P1059Q exm13012 1 10364532 [T/C] NM_015074,NM_183416 KIF1B,KIF1B EXON Silent,Missense_R1097C exm13013 1 10364578 [A/G] NM_015074,NM_183416 KIF1B,KIF1B EXON Silent,Missense_N1112S exm13020 1 10380144 [T/C] NM_015074 KIF1B EXON Missense_T674I exm13029 1 10381887 [A/G] NM_015074 KIF1B EXON Missense_N731S exm13031 1 10384031 [C/G] NM_015074 KIF1B EXON Missense_E770D exm13034 1 10384829 [A/T] NM_015074 KIF1B EXON Missense_L805M exm13035 1 10384864 [A/G] NM_015074 KIF1B EXON Missense_M816I exm13036 1 10384871 [A/C] NM_015074 KIF1B EXON Missense_S819R exm13040 1 10384896 [T/C] NM_015074 KIF1B EXON Missense_T827I exm13043 1 10384941 [A/G] NM_015074 KIF1B EXON Missense_K842R exm-rs17401966 1 10385471 [A/G] NM_015074 KIF1B Silent exm13048 1 10386320 [A/G] NM_015074 KIF1B EXON Missense_A897T exm2230665 1 10397247 [A/G] NM_015074 KIF1B EXON Missense_R1036Q exm13073 1 10397567 [A/G] NM_015074 KIF1B EXON Missense_Y1087C exm13084 1 10403292 [T/C] NM_015074 KIF1B EXON Missense_P1166L exm13101 1 10412758 [A/C] NM_015074 KIF1B EXON Missense_S1294Y exm13113 1 10421790 [T/C] NM_015074 KIF1B EXON Missense_V1358A exm13132 1 10425598 [T/G] NM_015074 KIF1B EXON Missense_Q1502H exm13135 1 10428570 [A/G] NM_015074 KIF1B EXON Missense_V1554M exm13137 1 10428592 [A/G] NM_015074 KIF1B EXON Missense_C1561Y exm1690543 1 10431299 [A/G] NM_015074 KIF1B EXON Missense_R1596K exm13149 1 10434447 [A/G] NM_015074 KIF1B EXON Missense_E1628K exm13162 1 10435429 [A/G] NM_015074 KIF1B EXON Missense_I1756M exm1690552 1 10436626 [T/C] NM_015074 KIF1B EXON Missense_P1765L exm13180 1 10459761 [A/G] NM_002631 PGD EXON Synonymous_V28V exm13221 1 10473219 [T/C] NM_002631 PGD EXON Missense_P252L exm2249478 1 10477441 [T/C] NM_002631 PGD EXON Synonymous_Y328Y exm1690573 1 10477532 [A/G] NM_002631 PGD EXON Missense_A359T exm13234 1 10478897 [A/G] NM_002631 PGD EXON Missense_K375R exm13267 1 10493990 [T/C] NM_001270517,NM_199294,NM_199006,NM_198544,NM_001243768,NR_037187,NR_036462 APITD1-CORT,APITD1,APITD1-CORT,APITD1-CORT,APITD1-CORT,APITD1-CORT,APITD1 EXON Missense_A48V,Missense_A48V,Missense_A48V,Missense_A48V,Silent,Silent,Silent exm13281 1 10502373 [T/C] NM_001270517,NM_199294,NM_199006,NM_198544,NM_001243768,NR_037187,NR_036462 APITD1-CORT,APITD1,APITD1-CORT,APITD1-CORT,APITD1-CORT,APITD1-CORT,APITD1 EXON Nonsense_R110X,Nonsense_R110X,Silent,Silent,Silent,Silent,Silent exm13283 1 10502454 [A/G] NM_001270517,NM_199294,NM_199006,NM_198544,NM_001243768,NR_037187,NR_036462 APITD1-CORT,APITD1,APITD1-CORT,APITD1-CORT,APITD1-CORT,APITD1-CORT,APITD1 EXON Missense_E137K,Missense_E137K,Silent,Silent,Silent,Silent,Silent exm13295 1 10511521 [A/G] NM_001270517,NM_199006,NM_198544,NM_001243768,NR_037187,NM_001302 APITD1-CORT,APITD1-CORT,APITD1-CORT,APITD1-CORT,APITD1-CORT,CORT EXON Silent,Silent,Missense_G122R,Missense_G101R,Silent,Missense_G63R exm13304 1 10511596 [T/C] NM_001270517,NM_199006,NM_198544,NM_001243768,NR_037187,NM_001302 APITD1-CORT,APITD1-CORT,APITD1-CORT,APITD1-CORT,APITD1-CORT,CORT EXON Silent,Silent,Missense_R147W,Missense_R126W,Silent,Missense_R88W exm13311 1 10521629 [A/G] NM_004401,NM_213566 DFFA,DFFA EXON Missense_S305F,Silent exm13313 1 10521644 [A/G] NM_004401,NM_213566 DFFA,DFFA EXON Missense_T300M,Silent exm13315 1 10521656 [T/C] NM_004401,NM_213566 DFFA,DFFA EXON Missense_R296H,Silent exm13316 1 10521657 [A/G] NM_004401,NM_213566 DFFA,DFFA EXON Missense_R296C,Silent exm13325 1 10523133 [T/A] NM_004401,NM_213566 DFFA,DFFA EXON Missense_L255F,Missense_L255F exm13329 1 10523191 [A/G] NM_004401,NM_213566 DFFA,DFFA EXON Missense_A236V,Missense_A236V exm13330 1 10523195 [T/C] NM_004401,NM_213566 DFFA,DFFA EXON Missense_V235I,Missense_V235I exm13338 1 10523617 [T/C] NM_004401,NM_213566 DFFA,DFFA EXON Missense_V168I,Missense_V168I exm13339 1 10523626 [A/G] NM_004401,NM_213566 DFFA,DFFA EXON Missense_C165R,Missense_C165R exm13341 1 10523665 [T/C] NM_004401,NM_213566 DFFA,DFFA EXON Missense_A152T,Missense_A152T exm13349 1 10529326 [A/G] NM_004401,NM_213566 DFFA,DFFA EXON Missense_I69T,Missense_I69T exm13355 1 10532442 [A/C] NM_004401,NM_213566 DFFA,DFFA EXON Missense_R25L,Missense_R25L exm13356 1 10535041 [C/G] NM_004565 PEX14 EXON Missense_Q6H exm1690624 1 10535049 [A/T] NM_004565 PEX14 EXON Missense_Q9L exm13357 1 10535052 [G/C] NM_004565 PEX14 EXON Missense_P10R exm-rs12741973 1 10638604 [T/C] NM_004565 PEX14 Silent exm13373 1 10659333 [T/G] NM_004565 PEX14 EXON Missense_S70A exm13385 1 10678439 [T/G] NM_004565 PEX14 EXON Missense_A117S exm13394 1 10683142 [A/G] NM_004565 PEX14 EXON Missense_G151S exm13395 1 10683165 [A/C] NM_004565 PEX14 EXON Missense_S158R exm13396 1 10683166 [A/G] NM_004565 PEX14 EXON Missense_V159M exm13408 1 10687345 [A/G] NM_004565 PEX14 EXON Missense_N201S exm13414 1 10689676 [A/G] NM_004565 PEX14 EXON Missense_V256M exm13425 1 10689869 [A/G] NM_004565 PEX14 EXON Missense_R320K exm13478 1 10700044 [A/C] NM_001079843 CASZ1 EXON Missense_F1412C exm13485 1 10703026 [T/C] NM_001079843 CASZ1 EXON Missense_D1351G exm13496 1 10705025 [C/G] NM_001079843 CASZ1 EXON Missense_A1273P exm13502 1 10705106 [A/G] NM_001079843 CASZ1 EXON Missense_R1246C exm13515 1 10706383 [A/G] NM_001079843 CASZ1 EXON Synonymous_N1166N exm13552 1 10709453 [G/C] NM_001079843,NM_017766 CASZ1,CASZ1 EXON Missense_I974M,Missense_I974M exm1690681 1 10709466 [A/C] NM_001079843,NM_017766 CASZ1,CASZ1 EXON Missense_S970I,Missense_S970I exm1690682 1 10709469 [T/C] NM_001079843,NM_017766 CASZ1,CASZ1 EXON Missense_G969D,Missense_G969D exm13576 1 10713601 [A/G] NM_001079843,NM_017766 CASZ1,CASZ1 EXON Missense_T838M,Missense_T838M exm13587 1 10713854 [T/C] NM_001079843,NM_017766 CASZ1,CASZ1 EXON Missense_A754T,Missense_A754T exm13591 1 10713896 [T/C] NM_001079843,NM_017766 CASZ1,CASZ1 EXON Missense_A740T,Missense_A740T exm1690697 1 10713980 [T/C] NM_001079843,NM_017766 CASZ1,CASZ1 EXON Missense_A712T,Missense_A712T exm13612 1 10714261 [A/G] NM_001079843,NM_017766 CASZ1,CASZ1 EXON Missense_T618I,Missense_T618I exm13625 1 10715762 [T/C] NM_001079843,NM_017766 CASZ1,CASZ1 EXON Missense_V537I,Missense_V537I exm13634 1 10718605 [T/C] NM_001079843,NM_017766 CASZ1,CASZ1 EXON Missense_V457I,Missense_V457I exm13663 1 10720135 [T/C] NM_001079843,NM_017766 CASZ1,CASZ1 EXON Missense_G322S,Missense_G322S exm13670 1 10720254 [A/G] NM_001079843,NM_017766 CASZ1,CASZ1 EXON Missense_T282M,Missense_T282M exm13675 1 10720339 [A/C] NM_001079843,NM_017766 CASZ1,CASZ1 EXON Missense_W254G,Missense_W254G exm13677 1 10720369 [A/G] NM_001079843,NM_017766 CASZ1,CASZ1 EXON Missense_R244C,Missense_R244C exm13694 1 10725154 [A/G] NM_001079843,NM_017766 CASZ1,CASZ1 EXON Missense_T164I,Missense_T164I exm13697 1 10725188 [T/C] NM_001079843,NM_017766 CASZ1,CASZ1 EXON Missense_G153R,Missense_G153R exm13698 1 10725193 [A/G] NM_001079843,NM_017766 CASZ1,CASZ1 EXON Missense_S151L,Missense_S151L exm13700 1 10725239 [G/C] NM_001079843,NM_017766 CASZ1,CASZ1 EXON Missense_A136P,Missense_A136P exm13701 1 10725240 [G/C] NM_001079843,NM_017766 CASZ1,CASZ1 EXON Missense_H135Q,Missense_H135Q exm13702 1 10725278 [T/C] NM_001079843,NM_017766 CASZ1,CASZ1 EXON Missense_M123V,Missense_M123V exm13714 1 10725413 [A/G] NM_001079843,NM_017766 CASZ1,CASZ1 EXON Missense_R78C,Missense_R78C exm13718 1 10725469 [A/G] NM_001079843,NM_017766 CASZ1,CASZ1 EXON Missense_S59L,Missense_S59L exm2249485 1 10725474 [A/G] NM_001079843,NM_017766 CASZ1,CASZ1 EXON Synonymous_S57S,Synonymous_S57S exm13724 1 10725572 [A/G] NM_001079843,NM_017766 CASZ1,CASZ1 EXON Missense_R25C,Missense_R25C exm-rs880315 1 10796866 [T/C] NM_001079843,NM_017766 CASZ1,CASZ1 Silent,Silent exm-rs12046278 1 10799577 [T/C] NM_001079843,NM_017766 CASZ1,CASZ1 Silent,Silent exm2249489 1 10890771 [A/G] exm13735 1 11007724 [T/C] NM_001170754 C1orf127 EXON Missense_R823H exm13736 1 11007725 [A/G] NM_001170754 C1orf127 EXON Missense_R823C exm13740 1 11007881 [T/G] NM_001170754 C1orf127 EXON Missense_L771I exm13741 1 11007895 [T/G] NM_001170754 C1orf127 EXON Missense_P766H exm13745 1 11007930 [T/G] NM_001170754 C1orf127 EXON Missense_S754R exm13748 1 11007982 [A/G] NM_001170754 C1orf127 EXON Missense_A737V exm13750 1 11007997 [T/C] NM_001170754 C1orf127 EXON Missense_R732Q exm13752 1 11008043 [A/G] NM_001170754 C1orf127 EXON Missense_L717F exm13754 1 11008055 [A/G] NM_001170754 C1orf127 EXON Missense_R713C exm13758 1 11008102 [A/G] NM_001170754 C1orf127 EXON Missense_A697V exm13761 1 11008127 [T/C] NM_001170754 C1orf127 EXON Missense_G689R exm13773 1 11008295 [A/G] NM_001170754 C1orf127 EXON Missense_P633S exm13783 1 11008406 [A/G] NM_001170754 C1orf127 EXON Missense_R596W exm13784 1 11008417 [A/G] NM_001170754 C1orf127 EXON Missense_A592V exm13786 1 11008487 [T/C] NM_001170754 C1orf127 EXON Missense_G569R exm13789 1 11008532 [T/C] NM_001170754 C1orf127 EXON Missense_A554T exm13795 1 11008633 [A/G] NM_001170754 C1orf127 EXON Missense_P520L exm13799 1 11008684 [A/G] NM_001170754 C1orf127 EXON Missense_T503M exm13800 1 11008685 [T/C] NM_001170754 C1orf127 EXON Missense_T503A exm13802 1 11008700 [A/G] NM_001170754 C1orf127 EXON Missense_R498C exm13809 1 11008762 [A/G] NM_001170754 C1orf127 EXON Missense_T477I exm13810 1 11008778 [A/T] NM_001170754 C1orf127 EXON Missense_I472F exm13811 1 11008799 [G/C] NM_001170754 C1orf127 EXON Missense_P465A exm13812 1 11008843 [A/G] NM_001170754 C1orf127 EXON Missense_A450V exm13813 1 11008844 [G/C] NM_001170754 C1orf127 EXON Missense_A450P exm13816 1 11008864 [A/G] NM_001170754 C1orf127 EXON Missense_A443V exm13817 1 11008870 [T/C] NM_001170754 C1orf127 EXON Missense_K441R exm13818 1 11008894 [A/G] NM_001170754 C1orf127 EXON Missense_L433P exm13820 1 11009679 [A/G] NM_001170754 C1orf127 Silent exm13824 1 11009703 [T/C] NM_001170754 C1orf127 EXON Missense_R423Q exm13825 1 11009704 [A/G] NM_001170754 C1orf127 EXON Missense_R423W exm13826 1 11009716 [C/G] NM_001170754 C1orf127 EXON Missense_D419H exm13829 1 11009844 [A/G] NM_001170754 C1orf127 EXON Missense_T376I exm13832 1 11014091 [A/G] NM_001170754 C1orf127 EXON Missense_F362L exm13835 1 11014118 [T/C] NM_001170754 C1orf127 EXON Missense_A353T exm13838 1 11014174 [A/G] NM_001170754 C1orf127 EXON Missense_P334L exm13840 1 11014199 [C/G] NM_001170754 C1orf127 EXON Missense_R326G exm13854 1 11015165 [A/G] NM_001170754 C1orf127 EXON Missense_I286T exm13855 1 11017141 [A/G] NM_001170754 C1orf127 EXON Synonymous_L239L exm2249513 1 11017141 [A/G] NM_001170754 C1orf127 EXON Synonymous_L239L exm13856 1 11017163 [A/G] NM_001170754 C1orf127 EXON Missense_V232A exm2259679 1 11029478 [T/G] NM_001170754 C1orf127 Silent exm13889 1 11076931 [T/C] NM_007375 TARDBP EXON Missense_A90V exm13915 1 11086950 [T/C] NM_006610 MASP2 EXON Missense_D685N exm13924 1 11087100 [T/C] NM_006610 MASP2 EXON Missense_G635R exm13925 1 11087121 [T/C] NM_006610 MASP2 EXON Missense_S628G exm13927 1 11087207 [A/G] NM_006610 MASP2 EXON Missense_T599I exm13929 1 11087231 [A/G] NM_006610 MASP2 EXON Missense_P591L exm13931 1 11087272 [T/G] NM_006610 MASP2 EXON Missense_Q577H exm13932 1 11087284 [G/C] NM_006610 MASP2 EXON Missense_W573C exm13934 1 11087301 [G/C] NM_006610 MASP2 EXON Missense_G568R exm1694083 1 11087337 [T/C] NM_006610 MASP2 EXON Missense_K556E exm13951 1 11087612 [C/G] NM_006610 MASP2 EXON Missense_G464A exm13954 1 11087687 [T/C] NM_006610 MASP2 EXON Missense_R439H exm13958 1 11090287 [T/C] NM_006610 MASP2 EXON Missense_D415N exm13960 1 11090814 [T/C] NM_006610 MASP2 EXON Missense_V405M exm13962 1 11090840 [T/C] NM_006610 MASP2 EXON Missense_C396Y exm13964 1 11090885 [A/G] NM_006610 MASP2 EXON Missense_T381I exm13966 1 11090897 [A/G] NM_006610 MASP2 EXON Missense_V377A exm13967 1 11090916 [A/C] NM_006610 MASP2 EXON Missense_D371Y exm13983 1 11097867 [T/C] NM_006610 MASP2 EXON Synonymous_A297A exm13987 1 11102940 [A/G] NM_006610 MASP2 EXON Missense_T294M exm14025 1 11106628 [A/C] NM_006610,NM_139208 MASP2,MASP2 EXON Missense_F133V,Missense_F133V exm14026 1 11106630 [A/G] NM_006610,NM_139208 MASP2,MASP2 EXON Missense_A132V,Missense_A132V exm14032 1 11106673 [A/G] NM_006610,NM_139208 MASP2,MASP2 EXON Missense_R118C,Missense_R118C exm14039 1 11106762 [A/G] NM_006610,NM_139208 MASP2,MASP2 EXON Missense_T88M,Missense_T88M exm14040 1 11106783 [T/G] NM_006610,NM_139208 MASP2,MASP2 EXON Nonsense_S81X,Nonsense_S81X exm14051 1 11107144 [A/G] NM_006610,NM_139208 MASP2,MASP2 EXON Missense_S13L,Missense_S13L exm14076 1 11115126 [T/C] NM_003132 SRM EXON Missense_E261K exm1694537 1 11115844 [G/C] NM_003132 SRM EXON Missense_K253N exm1694875 1 11128123 [A/T] NM_001001998,NM_002685 EXOSC10,EXOSC10 EXON Nonsense_K857X,Nonsense_K832X exm14113 1 11128712 [A/G] NM_001001998,NM_002685 EXOSC10,EXOSC10 EXON Missense_P847L,Missense_P822L exm14118 1 11129649 [T/C] NM_001001998,NM_002685 EXOSC10,EXOSC10 EXON Missense_D819N,Missense_D794N exm14124 1 11130974 [T/C] NM_001001998,NM_002685 EXOSC10,EXOSC10 EXON Missense_V767I,Missense_V742I exm14134 1 11134005 [T/C] NM_001001998,NM_002685 EXOSC10,EXOSC10 EXON Missense_T715A,Silent exm14137 1 11134043 [T/C] NM_001001998,NM_002685 EXOSC10,EXOSC10 EXON Missense_R702H,Silent exm14187 1 11141195 [T/C] NM_001001998,NM_002685 EXOSC10,EXOSC10 EXON Missense_G461R,Missense_G461R exm14190 1 11141228 [T/G] NM_001001998,NM_002685 EXOSC10,EXOSC10 EXON Missense_K450Q,Missense_K450Q exm14196 1 11142745 [T/C] NM_001001998,NM_002685 EXOSC10,EXOSC10 EXON Missense_R427H,Missense_R427H exm14200 1 11142844 [A/C] NM_001001998,NM_002685 EXOSC10,EXOSC10 EXON Missense_R394L,Missense_R394L exm2249583 1 11150667 [A/G] NM_001001998,NM_002685 EXOSC10,EXOSC10 EXON Synonymous_P234P,Synonymous_P234P exm14241 1 11151554 [T/C] NM_001001998,NM_002685 EXOSC10,EXOSC10 EXON Missense_R158H,Missense_R158H exm14250 1 11158105 [T/C] NM_001001998,NM_002685 EXOSC10,EXOSC10 EXON Missense_E74K,Missense_E74K exm14254 1 11158209 [A/G] NM_001001998,NM_002685 EXOSC10,EXOSC10 EXON Missense_A39V,Missense_A39V exm14259 1 11159851 [A/G] NM_001001998,NM_002685 EXOSC10,EXOSC10 EXON Missense_S13L,Missense_S13L exm14273 1 11169379 [T/C] NM_004958 MTOR EXON Missense_Q2499R exm14325 1 11189856 [T/C] NM_004958 MTOR EXON Missense_V1885I exm14333 1 11190698 [A/G] NM_004958 MTOR EXON Missense_T1834M exm2249614 1 11194410 [T/G] NM_004958 MTOR EXON Synonymous_A1748A exm14354 1 11194457 [T/C] NM_004958 MTOR EXON Missense_A1733T exm14355 1 11194467 [A/C] NM_004958 MTOR EXON Missense_Q1729H exm14365 1 11199647 [A/C] NM_004958 MTOR EXON Missense_H1647Q exm14374 1 11204736 [A/G] NM_004958,NR_046600 MTOR,MTOR-AS1 EXON Missense_I1614T,Silent exm14375 1 11204749 [T/C] NM_004958,NR_046600 MTOR,MTOR-AS1 EXON Missense_E1610K,Silent exm14395 1 11249724 [T/A] NM_004958,NM_021146 MTOR,ANGPTL7 EXON Silent,Missense_S30T exm14397 1 11249789 [C/G] NM_004958,NM_021146 MTOR,ANGPTL7 EXON Silent,Missense_E51D exm14399 1 11249803 [T/C] NM_004958,NM_021146 MTOR,ANGPTL7 EXON Silent,Missense_V56A exm14405 1 11249980 [A/G] NM_004958,NM_021146 MTOR,ANGPTL7 EXON Silent,Missense_Q115R exm14406 1 11249992 [T/C] NM_004958,NM_021146 MTOR,ANGPTL7 EXON Silent,Missense_T119M exm14409 1 11252357 [A/G] NM_004958,NM_021146 MTOR,ANGPTL7 EXON Silent,Missense_Q136R exm14410 1 11252369 [A/G] NM_004958,NM_021146 MTOR,ANGPTL7 EXON Silent,Missense_R140H exm14417 1 11253684 [T/G] NM_004958,NM_021146 MTOR,ANGPTL7 EXON Silent,Missense_Q175H exm14418 1 11253688 [T/C] NM_004958,NM_021146 MTOR,ANGPTL7 EXON Silent,Nonsense_R177X exm14420 1 11253722 [A/G] NM_004958,NM_021146 MTOR,ANGPTL7 EXON Silent,Nonsense_W188X exm14425 1 11253817 [T/C] NM_004958,NM_021146 MTOR,ANGPTL7 EXON Silent,Missense_R220C exm14426 1 11253818 [A/G] NM_004958,NM_021146 MTOR,ANGPTL7 EXON Silent,Missense_R220H exm14440 1 11255073 [A/G] NM_004958,NM_021146 MTOR,ANGPTL7 EXON Silent,Missense_K345R exm14461 1 11272449 [G/C] NM_004958 MTOR EXON Missense_R1161G exm2249658 1 11272468 [C/G] NM_004958 MTOR EXON Synonymous_R1154R exm14489 1 11288898 [T/C] NM_004958 MTOR EXON Missense_V953M exm14511 1 11298052 [A/G] NM_004958 MTOR EXON Missense_H686Y exm14514 1 11298552 [T/C] NM_004958 MTOR EXON Missense_I637V exm14518 1 11298606 [A/G] NM_004958 MTOR EXON Missense_R619C exm14544 1 11307762 [T/C] NM_004958 MTOR EXON Missense_N382S exm14548 1 11307941 [A/G] NM_004958 MTOR EXON Missense_P351S exm14550 1 11308007 [T/C] NM_004958 MTOR EXON Missense_A329T exm14600 1 11333812 [T/C] NM_013319 UBIAD1 EXON Missense_S75F exm14601 1 11333818 [A/G] NM_013319 UBIAD1 EXON Missense_G77D exm14610 1 11334040 [A/G] NM_013319 UBIAD1 EXON Missense_Y151C exm14612 1 11334073 [T/C] NM_013319 UBIAD1 EXON Missense_L162P exm2259729 1 11395416 [A/G] exm2263813 1 11400409 [A/C] exm14628 1 11561057 [T/C] NM_020780 PTCHD2 EXON Missense_T3M exm14629 1 11561065 [C/G] NM_020780 PTCHD2 EXON Missense_D6H exm14630 1 11561093 [A/C] NM_020780 PTCHD2 EXON Missense_E15A exm14634 1 11561164 [A/G] NM_020780 PTCHD2 EXON Missense_G39R exm14637 1 11561200 [G/C] NM_020780 PTCHD2 EXON Missense_L51V exm14638 1 11561204 [T/C] NM_020780 PTCHD2 EXON Missense_A52V exm14646 1 11561489 [T/C] NM_020780 PTCHD2 EXON Missense_T147M exm14649 1 11561593 [A/G] NM_020780 PTCHD2 EXON Missense_G182S exm1702670 1 11561600 [T/G] NM_020780 PTCHD2 EXON Missense_G184V exm14652 1 11561692 [T/G] NM_020780 PTCHD2 EXON Missense_A215S exm14655 1 11561828 [C/G] NM_020780 PTCHD2 EXON Missense_R260P exm14681 1 11576094 [A/G] NM_020780 PTCHD2 EXON Missense_R542H exm14690 1 11577529 [A/G] NM_020780 PTCHD2 EXON Missense_V587I exm14698 1 11579470 [A/G] NM_020780 PTCHD2 EXON Missense_A650T exm14699 1 11579471 [T/C] NM_020780 PTCHD2 EXON Missense_A650V exm14724 1 11584104 [A/C] NM_020780 PTCHD2 EXON Missense_T823N exm14731 1 11585308 [T/C] NM_020780 PTCHD2 EXON Missense_A851V exm14760 1 11589895 [T/C] NM_020780 PTCHD2 EXON Missense_T994M exm2230861 1 11589972 [A/G] NM_020780 PTCHD2 EXON Missense_V1020I exm14764 1 11589979 [A/G] NM_020780 PTCHD2 EXON Missense_R1022H exm14766 1 11590016 [A/G] NM_020780 PTCHD2 EXON Synonymous_P1034P exm14790 1 11594594 [A/G] NM_020780 PTCHD2 EXON Missense_V1178I exm2249707 1 11595659 [T/C] NM_020780 PTCHD2 EXON Synonymous_G1258G exm2230873 1 11709222 [A/C] NM_012168 FBXO2 EXON Missense_E226D exm14843 1 11709892 [A/C] NM_012168 FBXO2 EXON Missense_E187D exm14849 1 11710060 [T/C] NM_012168 FBXO2 EXON Missense_S155G exm14890 1 11716146 [T/C] NM_183412,NM_183413,NM_001014765,NM_033182 FBXO44,FBXO44,FBXO44,FBXO44 EXON Missense_P85L,Missense_P85L,Missense_P85L,Missense_P85L exm14893 1 11718390 [A/G] NM_183412,NM_183413,NM_001014765,NM_033182 FBXO44,FBXO44,FBXO44,FBXO44 EXON Missense_R111Q,Missense_R111Q,Missense_R111Q,Missense_R111Q exm14902 1 11718797 [A/G] NM_183412,NM_183413,NM_001014765,NM_033182 FBXO44,FBXO44,FBXO44,FBXO44 EXON Missense_R123H,Missense_R123H,Missense_A165T,Missense_A165T exm14903 1 11718819 [T/C] NM_183412,NM_183413,NM_001014765,NM_033182 FBXO44,FBXO44,FBXO44,FBXO44 EXON Synonymous_V130V,Synonymous_V130V,Missense_S172F,Missense_S172F exm14906 1 11718859 [T/C] NM_183412,NM_183413,NM_001014765,NM_033182 FBXO44,FBXO44,FBXO44,FBXO44 EXON Missense_R144C,Missense_R144C,Synonymous_H185H,Synonymous_H185H exm14907 1 11718861 [T/C] NM_183412,NM_183413,NM_001014765,NM_033182 FBXO44,FBXO44,FBXO44,FBXO44 EXON Synonymous_R144R,Synonymous_R144R,Missense_A186V,Missense_A186V exm14909 1 11718907 [A/G] NM_183412,NM_183413,NM_001014765,NM_033182 FBXO44,FBXO44,FBXO44,FBXO44 EXON Missense_E160K,Missense_E160K,Synonymous_K201K,Synonymous_K201K exm14912 1 11721213 [A/G] NM_183412,NM_183413,NM_001014765,NM_033182 FBXO44,FBXO44,FBXO44,FBXO44 EXON Missense_A176T,Missense_A176T,Synonymous_P217P,Synonymous_P217P exm1703362 1 11721271 [A/G] NM_183412,NM_183413,NM_001014765,NM_033182 FBXO44,FBXO44,FBXO44,FBXO44 EXON Missense_R195Q,Missense_R195Q,Missense_G237S,Missense_G237S exm14924 1 11721315 [A/G] NM_183412,NM_183413,NM_001014765,NM_033182 FBXO44,FBXO44,FBXO44,FBXO44 EXON Missense_A210T,Missense_A210T,Synonymous_G251G,Synonymous_G251G exm14925 1 11721320 [T/C] NM_183412,NM_183413,NM_001014765,NM_033182 FBXO44,FBXO44,FBXO44,FBXO44 EXON Synonymous_P211P,Synonymous_P211P,Missense_P253L,Missense_P253L exm14950 1 11731365 [A/G] NM_018438 FBXO6 EXON Missense_R110H exm14953 1 11732050 [T/C] NM_018438 FBXO6 EXON Missense_T160I exm2230883 1 11733425 [A/C] NM_018438 FBXO6 EXON Missense_P201T exm14967 1 11733700 [A/G] NM_018438 FBXO6 EXON Missense_R225Q exm14972 1 11733799 [A/G] NM_018438 FBXO6 EXON Missense_S258N exm14973 1 11733801 [A/C] NM_018438 FBXO6 EXON Missense_P259T exm14976 1 11733846 [A/C] NM_018438 FBXO6 EXON Missense_Q274K exm14979 1 11733894 [A/G] NM_018438 FBXO6 EXON Missense_V290I exm15012 1 11736959 [T/C] NM_001127325,NM_006341 MAD2L2,MAD2L2 EXON Missense_R93H,Missense_R93H exm15048 1 11766424 [T/C] NM_198545 DRAXIN EXON Missense_L37F exm15079 1 11769515 [A/G] NM_198545 DRAXIN EXON Missense_R212Q exm15080 1 11771906 [A/T] NM_198545 DRAXIN Silent exm15081 1 11771907 [C/G] NM_198545 DRAXIN Silent exm15082 1 11771929 [A/G] NM_198545 DRAXIN EXON Missense_G222R exm15086 1 11771999 [A/G] NM_198545 DRAXIN EXON Missense_G245D exm15091 1 11772411 [A/G] NM_198545 DRAXIN EXON Missense_K258E exm15106 1 11775178 [T/A] NM_198545 DRAXIN EXON Missense_T284S exm-rs4846033 1 11788564 [A/G] exm15135 1 11806234 [C/G] NM_001040195,NM_020350,NM_001040194,NM_001040197,NM_001040196 AGTRAP,AGTRAP,AGTRAP,AGTRAP,AGTRAP EXON Silent,Silent,Silent,Missense_T38S,Missense_T38S exm15144 1 11807576 [T/C] NM_001040195,NM_020350,NM_001040194,NM_001040197,NM_001040196 AGTRAP,AGTRAP,AGTRAP,AGTRAP,AGTRAP EXON Missense_A36V,Missense_R48W,Missense_R48W,Missense_A80V,Missense_A80V exm15146 1 11807600 [A/G] NM_001040195,NM_020350,NM_001040194,NM_001040197,NM_001040196 AGTRAP,AGTRAP,AGTRAP,AGTRAP,AGTRAP EXON Missense_H44R,Missense_M56V,Missense_M56V,Missense_H88R,Missense_H88R exm15152 1 11808550 [A/G] NM_001040195,NM_020350,NM_001040194,NM_001040197,NM_001040196 AGTRAP,AGTRAP,AGTRAP,AGTRAP,AGTRAP EXON Missense_G71E,Missense_D83N,Missense_D83N,Missense_G115E,Missense_G115E exm15153 1 11808560 [A/G] NM_001040195,NM_020350,NM_001040194,NM_001040197,NM_001040196 AGTRAP,AGTRAP,AGTRAP,AGTRAP,AGTRAP EXON Synonymous_P74P,Missense_R86H,Missense_R86H,Synonymous_P118P,Synonymous_P118P exm15156 1 11808602 [T/C] NM_001040195,NM_020350,NM_001040194,NM_001040197,NM_001040196 AGTRAP,AGTRAP,AGTRAP,AGTRAP,AGTRAP EXON Synonymous_A88A,Missense_P100L,Missense_P100L,Synonymous_A132A,Synonymous_A132A exm15168 1 11810197 [T/C] NM_001040195,NM_020350,NM_001040194,NM_001040197,NM_001040196 AGTRAP,AGTRAP,AGTRAP,AGTRAP,AGTRAP EXON Silent,Missense_A143V,Missense_A136V,Silent,Silent exm15227 1 11850750 [A/G] NM_005957 MTHFR EXON Missense_T653M exm15236 1 11850927 [T/C] NM_005957 MTHFR EXON Missense_R594Q exm2249735 1 11851297 [A/G] NM_005957 MTHFR EXON Synonymous_T573T exm15254 1 11852411 [A/C] NM_005957 MTHFR EXON Missense_R519L exm15255 1 11852412 [A/G] NM_005957 MTHFR EXON Missense_R519C exm-rs17375901 1 11852516 [T/C] NM_005957 MTHFR Silent exm15262 1 11854076 [T/C] NM_005957 MTHFR EXON Missense_R473Q exm15263 1 11854085 [T/A] NM_005957 MTHFR EXON Missense_E470V exm15264 1 11854086 [C/G] NM_005957 MTHFR EXON Missense_E470Q exm15270 1 11854429 [A/G] NM_005957 MTHFR EXON Missense_R445W exm15285 1 11854790 [A/G] NM_005957 MTHFR EXON Missense_R388C exm15296 1 11855248 [C/G] NM_005957 MTHFR EXON Missense_G313A exm15298 1 11855279 [T/C] NM_005957 MTHFR EXON Missense_V303M exm15306 1 11855398 [T/G] NM_005957 MTHFR EXON Missense_H263P exm15318 1 11856370 [T/C] NM_005957 MTHFR EXON Missense_I225V exm15319 1 11856376 [T/C] NM_005957 MTHFR EXON Missense_D223N exm15320 1 11856378 [A/G] NM_005957 MTHFR EXON Missense_A222V exm15334 1 11861298 [T/C] NM_005957 MTHFR EXON Missense_R132H exm-rs17367504 1 11862778 [A/G] NM_005957 MTHFR Silent exm1704558 1 11863038 [A/G] NM_005957 MTHFR EXON Missense_R46W exm15399 1 11884555 [A/G] NR_046428,NM_001286,NM_001256959 CLCN6,CLCN6,CLCN6 EXON Silent,Missense_E198G,Missense_E176G exm15417 1 11887245 [A/G] NR_046428,NM_001286,NM_001256959 CLCN6,CLCN6,CLCN6 EXON Silent,Synonymous_S269S,Synonymous_S247S exm15420 1 11887278 [A/G] NR_046428,NM_001286,NM_001256959 CLCN6,CLCN6,CLCN6 EXON Silent,Synonymous_V280V,Synonymous_V258V exm1704721 1 11889290 [A/G] NR_046428,NM_001286,NM_001256959 CLCN6,CLCN6,CLCN6 EXON Silent,Missense_V387M,Missense_V365M exm15437 1 11889310 [A/G] NR_046428,NM_001286,NM_001256959 CLCN6,CLCN6,CLCN6 EXON Silent,Synonymous_S393S,Synonymous_S371S exm15449 1 11894056 [T/C] NR_046428,NM_001286,NM_001256959 CLCN6,CLCN6,CLCN6 EXON Silent,Missense_F499L,Missense_F477L exm15450 1 11894062 [T/C] NR_046428,NM_001286,NM_001256959 CLCN6,CLCN6,CLCN6 EXON Silent,Missense_R501C,Missense_R479C exm15466 1 11894592 [A/G] NR_046428,NM_001286,NM_001256959 CLCN6,CLCN6,CLCN6 EXON Silent,Missense_V580M,Missense_V558M exm-rs1023252 1 11899033 [T/G] NR_046428,NM_001286,NM_001256959 CLCN6,CLCN6,CLCN6 Silent,Silent,Silent exm15531 1 11906068 [A/G] NR_037806,NM_006172 NPPA-AS1,NPPA EXON Silent,Missense_X152R exm15541 1 11907328 [T/C] NR_037806,NM_006172 NPPA-AS1,NPPA EXON Silent,Missense_G98R exm15543 1 11907423 [A/G] NR_037806,NM_006172 NPPA-AS1,NPPA EXON Silent,Missense_P66L exm15544 1 11907424 [T/G] NR_037806,NM_006172 NPPA-AS1,NPPA EXON Silent,Missense_P66T exm15545 1 11907430 [T/G] NR_037806,NM_006172 NPPA-AS1,NPPA EXON Silent,Missense_S64R exm15552 1 11907648 [T/C] NR_037806,NM_006172 NPPA-AS1,NPPA EXON Silent,Missense_V32M exm15554 1 11907659 [A/G] NR_037806,NM_006172 NPPA-AS1,NPPA EXON Silent,Missense_M28T exm15566 1 11917720 [A/G] NM_002521 NPPB EXON Missense_R133W exm15574 1 11918379 [A/C] NM_002521 NPPB EXON Missense_V94F exm15576 1 11918387 [T/C] NM_002521 NPPB EXON Missense_R91H exm15582 1 11918444 [T/C] NM_002521 NPPB EXON Missense_R72H exm15586 1 11918519 [T/C] NM_002521 NPPB EXON Missense_R47H exm15590 1 11918817 [A/C] NM_002521 NPPB EXON Missense_R25L exm2264801 1 11938050 [A/G] exm15600 1 11980389 [T/C] NM_138346 KIAA2013 EXON Missense_E630K exm15657 1 11983517 [C/G] NM_138346 KIAA2013 EXON Missense_H355D exm15661 1 11985288 [A/C] NM_138346 KIAA2013 EXON Missense_L336R exm15695 1 12008093 [A/G] NM_000302 PLOD1 EXON Missense_R46H exm15704 1 12009911 [A/G] NM_000302 PLOD1 EXON Missense_A84T exm15706 1 12009956 [A/G] NM_000302 PLOD1 EXON Missense_A99T exm15707 1 12010414 [T/C] NM_000302 PLOD1 EXON Synonymous_S101S exm15710 1 12010469 [T/G] NM_000302 PLOD1 EXON Missense_A120S exm15712 1 12010487 [T/G] NM_000302 PLOD1 EXON Missense_F126V exm15721 1 12012768 [T/G] NM_000302 PLOD1 EXON Missense_K185N exm1705254 1 12012777 [C/G] NM_000302 PLOD1 EXON Missense_L188F exm1705272 1 12014915 [A/G] NM_000302 PLOD1 EXON Missense_R203H exm2230925 1 12014920 [T/C] NM_000302 PLOD1 EXON Missense_R205C exm15741 1 12017933 [A/G] NM_000302 PLOD1 EXON Missense_R259H exm15742 1 12017942 [T/C] NM_000302 PLOD1 EXON Missense_T262I exm15743 1 12017959 [A/G] NM_000302 PLOD1 EXON Missense_T268A exm15769 1 12023632 [A/G] NM_000302 PLOD1 EXON Missense_V381M exm15784 1 12024350 [T/C] NM_000302 PLOD1 EXON Missense_R441W exm15794 1 12025561 [T/C] NM_000302 PLOD1 EXON Missense_R499W exm15795 1 12025599 [C/G] NM_000302 PLOD1 EXON Nonsense_Y511X exm15796 1 12025600 [T/C] NM_000302 PLOD1 EXON Missense_R512C exm15810 1 12030760 [T/C] NM_000302 PLOD1 EXON Missense_P597S exm15817 1 12032953 [A/G] NM_000302 PLOD1 EXON Missense_V643I exm15832 1 12034854 [A/G] NM_000302 PLOD1 EXON Missense_V725I exm15835 1 12049283 [T/C] NM_001127660,NM_014874 MFN2,MFN2 EXON Missense_H20Y,Missense_H20Y exm15862 1 12059085 [A/G] NM_001127660,NM_014874 MFN2,MFN2 EXON Missense_R250Q,Missense_R250Q exm15866 1 12061483 [G/C] NM_001127660,NM_014874 MFN2,MFN2 EXON Missense_C281S,Missense_C281S exm15872 1 12061533 [A/G] NM_001127660,NM_014874 MFN2,MFN2 EXON Missense_G298R,Missense_G298R exm15886 1 12064067 [A/G] NM_001127660,NM_014874 MFN2,MFN2 EXON Missense_M393I,Missense_M393I exm15888 1 12064087 [A/G] NM_001127660,NM_014874 MFN2,MFN2 EXON Missense_R400Q,Missense_R400Q exm15895 1 12064892 [A/G] NM_001127660,NM_014874 MFN2,MFN2 EXON Missense_R468H,Missense_R468H exm15908 1 12065846 [A/G] NM_001127660,NM_014874 MFN2,MFN2 EXON Missense_N525S,Missense_N525S exm15909 1 12065883 [C/G] NM_001127660,NM_014874 MFN2,MFN2 EXON Missense_F537L,Missense_F537L exm15928 1 12069692 [A/G] NM_001127660,NM_014874 MFN2,MFN2 EXON Missense_V705I,Missense_V705I exm15929 1 12069698 [T/C] NM_001127660,NM_014874 MFN2,MFN2 EXON Missense_R707W,Missense_R707W exm15931 1 12069725 [A/G] NM_001127660,NM_014874 MFN2,MFN2 EXON Missense_A716T,Missense_A716T exm15942 1 12081895 [A/G] NM_021933 MIIP EXON Missense_E38K exm15947 1 12082195 [A/C] NM_021933 MIIP EXON Nonsense_S53X exm15951 1 12082246 [A/G] NM_021933 MIIP EXON Missense_R70Q exm15954 1 12082290 [T/C] NM_021933 MIIP EXON Missense_R85C exm15957 1 12082334 [A/T] NM_021933 MIIP EXON Missense_K99N exm15961 1 12082363 [T/C] NM_021933 MIIP EXON Missense_P109L exm15965 1 12082461 [T/C] NM_021933 MIIP EXON Missense_P142S exm15970 1 12082926 [A/G] NM_021933 MIIP EXON Missense_K167E exm15971 1 12082938 [T/C] NM_021933 MIIP EXON Missense_R171C exm15988 1 12089845 [T/C] NM_021933 MIIP EXON Missense_R247W exm15992 1 12089858 [T/C] NM_021933 MIIP EXON Missense_P251L exm15995 1 12089903 [T/C] NM_021933 MIIP EXON Missense_P266L exm15999 1 12089946 [C/G] NM_021933 MIIP EXON Missense_H280Q exm16004 1 12090102 [T/C] NM_021933 MIIP EXON Missense_S288L exm16006 1 12090122 [T/C] NM_021933 MIIP EXON Missense_R295W exm16010 1 12090140 [T/C] NM_021933 MIIP EXON Nonsense_R301X exm2249760 1 12090154 [T/C] NM_021933 MIIP EXON Synonymous_D305D exm16012 1 12090179 [T/C] NM_021933 MIIP EXON Missense_R314W exm16023 1 12091410 [A/G] NM_021933 MIIP EXON Missense_A344T exm16027 1 12091788 [A/G] NM_021933 MIIP EXON Missense_M364V exm16032 1 12091839 [T/C] NM_021933 MIIP EXON Missense_P381S exm16033 1 12091851 [T/C] NM_021933 MIIP EXON Missense_R385W exm16049 1 12164451 [A/G] NM_001243 TNFRSF8 EXON Missense_K95R exm16066 1 12169689 [T/C] NM_001243 TNFRSF8 EXON Missense_P163L exm16074 1 12170154 [A/G] NM_001243 TNFRSF8 EXON Missense_S190N exm16087 1 12172056 [A/G] NM_001243 TNFRSF8 EXON Missense_V260M exm16095 1 12175694 [T/C] NM_001243 TNFRSF8 EXON Missense_P285L exm16097 1 12175729 [T/C] NM_001243 TNFRSF8 EXON Missense_R297C exm16104 1 12183362 [A/C] NM_001243 TNFRSF8 EXON Missense_T323N exm16118 1 12186043 [T/G] NM_001243,NM_152942 TNFRSF8,TNFRSF8 EXON Missense_V397L,Silent exm16119 1 12186058 [A/G] NM_001243,NM_152942 TNFRSF8,TNFRSF8 EXON Missense_S402G,Silent exm2264802 1 12189561 [A/G] NM_001243,NM_152942 TNFRSF8,TNFRSF8 Silent,Silent exm16135 1 12198305 [T/C] NM_001243,NM_152942 TNFRSF8,TNFRSF8 EXON Missense_S452L,Silent exm16139 1 12198347 [A/G] NM_001243,NM_152942 TNFRSF8,TNFRSF8 EXON Missense_Q466R,Missense_Q3R exm16141 1 12198362 [A/C] NM_001243,NM_152942 TNFRSF8,TNFRSF8 EXON Missense_T471N,Missense_T8N exm16154 1 12202555 [A/C] NM_001243,NM_152942 TNFRSF8,TNFRSF8 EXON Missense_E585D,Missense_E122D exm16171 1 12251141 [T/C] NM_001066 TNFRSF1B EXON Synonymous_S102S exm16177 1 12251902 [T/G] NM_001066 TNFRSF1B EXON Missense_A127S exm16191 1 12252927 [A/G] NM_001066 TNFRSF1B EXON Missense_V187M exm16193 1 12252955 [T/G] NM_001066 TNFRSF1B EXON Missense_M196R exm16195 1 12252981 [C/G] NM_001066 TNFRSF1B EXON Missense_P205A exm16200 1 12253062 [A/G] NM_001066 TNFRSF1B EXON Missense_E232K exm16205 1 12253143 [A/G] NM_001066 TNFRSF1B EXON Missense_A259T exm16206 1 12254015 [T/C] NM_001066 TNFRSF1B EXON Missense_L264P exm16210 1 12254659 [A/G] NM_001066 TNFRSF1B EXON Missense_Q295R exm2230952 1 12262042 [A/G] NM_001066 TNFRSF1B EXON Missense_K307E exm16227 1 12266883 [T/C] NM_001066 TNFRSF1B EXON Missense_S398P exm16242 1 12294420 [C/G] NM_018156,NM_015378 VPS13D,VPS13D EXON Missense_G33R,Missense_G33R exm16247 1 12304303 [A/G] NM_018156,NM_015378 VPS13D,VPS13D EXON Missense_G59D,Missense_G59D exm16253 1 12304403 [T/G] NM_018156,NM_015378 VPS13D,VPS13D EXON Missense_E92D,Missense_E92D exm2264987 1 12305286 [A/G] NM_018156,NM_015378 VPS13D,VPS13D Silent,Silent exm16261 1 12309291 [A/C] NM_018156,NM_015378 VPS13D,VPS13D EXON Missense_Q153H,Missense_Q153H exm16263 1 12309350 [A/G] NM_018156,NM_015378 VPS13D,VPS13D EXON Missense_G173D,Missense_G173D exm16264 1 12309363 [C/G] NM_018156,NM_015378 VPS13D,VPS13D EXON Missense_K177N,Missense_K177N exm16270 1 12313827 [A/G] NM_018156,NM_015378 VPS13D,VPS13D EXON Missense_I205V,Missense_I205V exm16276 1 12316393 [A/G] NM_018156,NM_015378 VPS13D,VPS13D EXON Missense_A225T,Missense_A225T exm16283 1 12316432 [A/G] NM_018156,NM_015378 VPS13D,VPS13D EXON Missense_V238I,Missense_V238I exm16290 1 12317102 [T/G] NM_018156,NM_015378 VPS13D,VPS13D EXON Missense_V300G,Missense_V300G exm16293 1 12317113 [A/T] NM_018156,NM_015378 VPS13D,VPS13D EXON Missense_R304W,Missense_R304W exm16297 1 12318027 [A/G] NM_018156,NM_015378 VPS13D,VPS13D EXON Missense_N326S,Missense_N326S exm16298 1 12318056 [T/C] NM_018156,NM_015378 VPS13D,VPS13D EXON Missense_R336C,Missense_R336C exm16299 1 12318057 [A/G] NM_018156,NM_015378 VPS13D,VPS13D EXON Missense_R336H,Missense_R336H exm16306 1 12318153 [T/A] NM_018156,NM_015378 VPS13D,VPS13D EXON Missense_D368V,Missense_D368V exm16307 1 12320753 [A/G] NM_018156,NM_015378 VPS13D,VPS13D EXON Missense_E372K,Missense_E372K exm16319 1 12321140 [A/G] NM_018156,NM_015378 VPS13D,VPS13D EXON Missense_E450K,Missense_E450K exm16329 1 12322081 [A/G] NM_018156,NM_015378 VPS13D,VPS13D EXON Missense_K513R,Missense_K513R exm16342 1 12328811 [T/C] NM_018156,NM_015378 VPS13D,VPS13D EXON Missense_P617L,Missense_P617L exm16356 1 12333084 [T/C] NM_018156,NM_015378 VPS13D,VPS13D EXON Missense_R710W,Missense_R710W exm1706232 1 12333085 [A/G] NM_018156,NM_015378 VPS13D,VPS13D EXON Missense_R710Q,Missense_R710Q exm1706233 1 12333136 [A/G] NM_018156,NM_015378 VPS13D,VPS13D EXON Missense_K727R,Missense_K727R exm1706252 1 12336034 [A/G] NM_018156,NM_015378 VPS13D,VPS13D EXON Missense_V797I,Missense_V797I exm16369 1 12336098 [T/C] NM_018156,NM_015378 VPS13D,VPS13D EXON Missense_S818L,Missense_S818L exm16371 1 12336134 [A/G] NM_018156,NM_015378 VPS13D,VPS13D EXON Missense_R830Q,Missense_R830Q exm2249773 1 12336147 [T/C] NM_018156,NM_015378 VPS13D,VPS13D EXON Synonymous_N834N,Synonymous_N834N exm16384 1 12336481 [T/C] NM_018156,NM_015378 VPS13D,VPS13D EXON Missense_R946C,Missense_R946C exm16397 1 12336751 [T/C] NM_018156,NM_015378 VPS13D,VPS13D EXON Missense_R1036W,Missense_R1036W exm1706260 1 12336785 [T/C] NM_018156,NM_015378 VPS13D,VPS13D EXON Missense_P1047L,Missense_P1047L exm16404 1 12336823 [A/G] NM_018156,NM_015378 VPS13D,VPS13D EXON Missense_D1060N,Missense_D1060N exm16429 1 12337667 [T/C] NM_018156,NM_015378 VPS13D,VPS13D EXON Missense_S1341L,Missense_S1341L exm16432 1 12337694 [A/G] NM_018156,NM_015378 VPS13D,VPS13D EXON Missense_R1350Q,Missense_R1350Q exm16439 1 12337888 [A/G] NM_018156,NM_015378 VPS13D,VPS13D EXON Missense_D1415N,Missense_D1415N exm16448 1 12338083 [T/C] NM_018156,NM_015378 VPS13D,VPS13D EXON Missense_H1480Y,Missense_H1480Y exm16450 1 12339619 [T/A] NM_018156,NM_015378 VPS13D,VPS13D EXON Missense_E1505V,Missense_E1505V exm16460 1 12342990 [A/G] NM_018156,NM_015378 VPS13D,VPS13D EXON Missense_E1611K,Missense_E1611K exm16461 1 12343030 [T/C] NM_018156,NM_015378 VPS13D,VPS13D EXON Missense_I1624T,Missense_I1624T exm16480 1 12343493 [T/A] NM_018156,NM_015378 VPS13D,VPS13D EXON Missense_S1778R,Missense_S1778R exm16487 1 12343686 [A/G] NM_018156,NM_015378 VPS13D,VPS13D EXON Missense_A1843T,Missense_A1843T exm16514 1 12353732 [T/C] NM_018156,NM_015378 VPS13D,VPS13D EXON Missense_R2002C,Missense_R2002C exm16528 1 12364649 [T/G] NM_018156,NM_015378 VPS13D,VPS13D EXON Missense_H2101Q,Missense_H2101Q exm16529 1 12364656 [A/G] NM_018156,NM_015378 VPS13D,VPS13D EXON Missense_G2104R,Missense_G2104R exm16531 1 12364666 [T/C] NM_018156,NM_015378 VPS13D,VPS13D EXON Missense_T2107M,Missense_T2107M exm16532 1 12364696 [A/G] NM_018156,NM_015378 VPS13D,VPS13D EXON Missense_S2117N,Missense_S2117N exm16534 1 12364752 [A/G] NM_018156,NM_015378 VPS13D,VPS13D EXON Missense_T2136A,Missense_T2136A exm16548 1 12371603 [A/G] NM_018156,NM_015378 VPS13D,VPS13D EXON Missense_R2248H,Missense_R2248H exm16570 1 12378223 [T/C] NM_018156,NM_015378 VPS13D,VPS13D EXON Missense_H2415Y,Missense_H2415Y exm16571 1 12378274 [T/C] NM_018156,NM_015378 VPS13D,VPS13D EXON Missense_R2432C,Missense_R2432C exm16577 1 12379557 [T/C] NM_018156,NM_015378 VPS13D,VPS13D EXON Missense_T2473M,Missense_T2473M exm16584 1 12379656 [A/G] NM_018156,NM_015378 VPS13D,VPS13D EXON Missense_R2506H,Missense_R2506H exm16589 1 12382704 [A/G] NM_018156,NM_015378 VPS13D,VPS13D EXON Missense_A2606T,Missense_A2606T exm16592 1 12382749 [T/C] NM_018156,NM_015378 VPS13D,VPS13D EXON Missense_R2621C,Missense_R2621C exm16598 1 12383814 [A/G] NM_018156,NM_015378 VPS13D,VPS13D EXON Missense_R2656H,Missense_R2656H exm16603 1 12387776 [A/C] NM_018156,NM_015378 VPS13D,VPS13D EXON Missense_T2688P,Missense_T2688P exm16605 1 12387797 [T/G] NM_018156,NM_015378 VPS13D,VPS13D EXON Missense_A2695S,Missense_A2695S exm16606 1 12387807 [T/C] NM_018156,NM_015378 VPS13D,VPS13D EXON Missense_A2698V,Missense_A2698V exm16623 1 12393346 [A/G] NM_018156,NM_015378 VPS13D,VPS13D EXON Missense_R2784H,Missense_R2784H exm16626 1 12393403 [A/G] NM_018156,NM_015378 VPS13D,VPS13D EXON Missense_N2803S,Missense_N2803S exm1706360 1 12398297 [T/G] NM_018156,NM_015378 VPS13D,VPS13D EXON Silent,Missense_L2854R exm16635 1 12401857 [T/C] NM_018156,NM_015378 VPS13D,VPS13D EXON Missense_R2858C,Missense_R2883C exm16671 1 12409403 [A/G] NM_018156,NM_015378 VPS13D,VPS13D EXON Missense_M3110V,Missense_M3135V exm16682 1 12416013 [A/G] NM_018156,NM_015378 VPS13D,VPS13D EXON Missense_Q3221R,Missense_Q3246R exm16687 1 12416075 [T/C] NM_018156,NM_015378 VPS13D,VPS13D EXON Missense_R3242W,Missense_R3267W exm16693 1 12418521 [A/G] NM_018156,NM_015378 VPS13D,VPS13D EXON Synonymous_T3310T,Synonymous_T3335T exm2249775 1 12418521 [A/G] NM_018156,NM_015378 VPS13D,VPS13D EXON Synonymous_T3310T,Synonymous_T3335T exm16709 1 12423273 [A/G] NM_018156,NM_015378 VPS13D,VPS13D EXON Missense_N3448S,Missense_N3473S exm16710 1 12423276 [A/T] NM_018156,NM_015378 VPS13D,VPS13D EXON Missense_K3449M,Missense_K3474M exm16715 1 12428632 [T/G] NM_018156,NM_015378 VPS13D,VPS13D EXON Missense_D3495Y,Missense_D3520Y exm16718 1 12429585 [A/G] NM_018156,NM_015378 VPS13D,VPS13D EXON Missense_M3521V,Missense_M3546V exm16722 1 12429702 [T/C] NM_018156,NM_015378 VPS13D,VPS13D EXON Missense_R3560W,Missense_R3585W exm16730 1 12438584 [T/C] NM_018156,NM_015378 VPS13D,VPS13D EXON Missense_R3649C,Missense_R3674C exm1706546 1 12443168 [T/C] NM_018156,NM_015378 VPS13D,VPS13D EXON Missense_M3750T,Missense_M3775T exm16748 1 12445337 [T/C] NM_018156,NM_015378 VPS13D,VPS13D EXON Missense_R3772W,Missense_R3797W exm16750 1 12445350 [A/G] NM_018156,NM_015378 VPS13D,VPS13D EXON Missense_R3776H,Missense_R3801H exm16752 1 12445407 [A/T] NM_018156,NM_015378 VPS13D,VPS13D EXON Missense_N3795I,Missense_N3820I exm16755 1 12446332 [A/G] NM_018156,NM_015378 VPS13D,VPS13D EXON Missense_N3833S,Missense_N3858S exm16759 1 12460315 [C/G] NM_018156,NM_015378 VPS13D,VPS13D EXON Missense_I3879M,Missense_I3904M exm16782 1 12475249 [A/G] NM_018156,NM_015378 VPS13D,VPS13D EXON Missense_N4022S,Missense_N4047S exm1706632 1 12476744 [T/G] NM_018156,NM_015378 VPS13D,VPS13D EXON Missense_G4041V,Missense_G4066V exm16791 1 12520282 [A/G] NM_018156,NM_015378 VPS13D,VPS13D EXON Missense_I4140V,Missense_I4165V exm16797 1 12520436 [T/C] NM_018156,NM_015378 VPS13D,VPS13D EXON Missense_T4191I,Missense_T4216I exm16804 1 12566989 [A/G] NM_018156,NM_015378 VPS13D,VPS13D EXON Missense_V4268M,Missense_V4293M exm16808 1 12567127 [G/C] NM_018156,NM_015378 VPS13D,VPS13D EXON Missense_P4314A,Missense_P4339A exm16816 1 12568968 [T/C] NM_018156,NM_015378 VPS13D,VPS13D EXON Missense_L4328F,Missense_L4353F exm16821 1 12628440 [T/C] NM_004753 DHRS3 EXON Missense_A280T exm16824 1 12632769 [T/C] NM_004753 DHRS3 EXON Missense_V271I exm16827 1 12632837 [T/C] NM_004753 DHRS3 EXON Missense_R248Q exm16834 1 12638804 [T/C] NM_004753 DHRS3 EXON Missense_A214T exm16842 1 12638918 [T/C] NM_004753 DHRS3 EXON Missense_V176M exm16854 1 12639389 [T/C] NM_004753 DHRS3 EXON Missense_S131G exm1706797 1 12640678 [T/C] NM_004753 DHRS3 EXON Missense_R71Q exm16868 1 12677188 [A/G] NM_004753 DHRS3 EXON Missense_R56C exm16884 1 12711205 [A/T] NM_001013630 AADACL4 EXON Missense_S78C exm1707009 1 12725971 [C/G] NM_001013630 AADACL4 Silent exm16901 1 12725976 [T/C] NM_001013630 AADACL4 EXON Missense_R152C exm16903 1 12726036 [C/G] NM_001013630 AADACL4 EXON Missense_H172D exm16904 1 12726049 [A/C] NM_001013630 AADACL4 EXON Missense_A176D exm16913 1 12726169 [A/G] NM_001013630 AADACL4 EXON Missense_R216Q exm16936 1 12726435 [A/G] NM_001013630 AADACL4 EXON Missense_G305S exm1707014 1 12726464 [A/C] NM_001013630 AADACL4 EXON Missense_E314D exm16946 1 12726618 [T/C] NM_001013630 AADACL4 EXON Missense_R366C exm2259759 1 12753203 [T/C] exm16961 1 12776344 [T/A] NM_001103169,NM_001103170 AADACL3,AADACL3 EXON Missense_M1L,Silent exm16963 1 12779547 [T/C] NM_001103169,NM_001103170 AADACL3,AADACL3 EXON Silent,Missense_P23L exm16968 1 12779586 [A/G] NM_001103169,NM_001103170 AADACL3,AADACL3 EXON Silent,Missense_R36H exm16969 1 12779618 [T/C] NM_001103169,NM_001103170 AADACL3,AADACL3 EXON Silent,Missense_S47P exm16970 1 12779654 [A/G] NM_001103169,NM_001103170 AADACL3,AADACL3 EXON Silent,Missense_V59M exm16973 1 12779678 [A/G] NM_001103169,NM_001103170 AADACL3,AADACL3 EXON Silent,Missense_V67I exm16975 1 12780909 [A/G] NM_001103169,NM_001103170 AADACL3,AADACL3 EXON Missense_R10H,Missense_R80H exm16979 1 12785200 [T/C] NM_001103169,NM_001103170 AADACL3,AADACL3 EXON Missense_L27S,Missense_L97S exm16992 1 12785337 [A/G] NM_001103169,NM_001103170 AADACL3,AADACL3 EXON Missense_A73T,Missense_A143T exm16993 1 12785379 [T/C] NM_001103169,NM_001103170 AADACL3,AADACL3 EXON Missense_R87W,Missense_R157W exm16994 1 12785380 [A/G] NM_001103169,NM_001103170 AADACL3,AADACL3 EXON Missense_R87Q,Missense_R157Q exm17000 1 12785451 [A/G] NM_001103169,NM_001103170 AADACL3,AADACL3 EXON Missense_R111G,Missense_R181G exm17005 1 12785494 [T/G] NM_001103169,NM_001103170 AADACL3,AADACL3 EXON Missense_C125F,Missense_C195F exm17006 1 12785608 [A/T] NM_001103169,NM_001103170 AADACL3,AADACL3 EXON Missense_I163N,Missense_I233N exm17012 1 12785721 [A/G] NM_001103169,NM_001103170 AADACL3,AADACL3 EXON Missense_A201T,Missense_A271T exm17013 1 12785749 [T/C] NM_001103169,NM_001103170 AADACL3,AADACL3 EXON Missense_P210L,Missense_P280L exm17023 1 12785911 [T/C] NM_001103169,NM_001103170 AADACL3,AADACL3 EXON Missense_P264L,Missense_P334L exm1707180 1 12806478 [T/G] NM_152290 C1orf158 EXON Nonsense_E34X exm17034 1 12815668 [A/G] NM_152290 C1orf158 EXON Missense_K44E exm17037 1 12815677 [T/C] NM_152290 C1orf158 EXON Nonsense_Q47X exm17056 1 12819421 [A/G] NM_152290 C1orf158 Silent exm17057 1 12820715 [A/G] NM_152290 C1orf158 EXON Missense_N139S exm17060 1 12820808 [T/C] NM_152290 C1orf158 EXON Missense_P170L exm17066 1 12820870 [T/C] NM_152290 C1orf158 EXON Missense_F191L exm17071 1 12835144 [T/C] NM_001080830 PRAMEF12 EXON Missense_T45I exm17074 1 12835158 [A/G] NM_001080830 PRAMEF12 EXON Missense_E50K exm17075 1 12835168 [A/C] NM_001080830 PRAMEF12 EXON Missense_T53K exm17076 1 12835186 [C/G] NM_001080830 PRAMEF12 EXON Missense_W59S exm17077 1 12835240 [A/T] NM_001080830 PRAMEF12 EXON Missense_I77N exm1707255 1 12835739 [G/C] NM_001080830 PRAMEF12 EXON Missense_G114A exm17090 1 12835805 [C/G] NM_001080830 PRAMEF12 EXON Missense_C136S exm17094 1 12835868 [T/C] NM_001080830 PRAMEF12 EXON Missense_M157T exm2230980 1 12835927 [T/C] NM_001080830 PRAMEF12 EXON Missense_H177Y exm17098 1 12835930 [A/G] NM_001080830 PRAMEF12 EXON Missense_V178M exm17099 1 12835933 [T/C] NM_001080830 PRAMEF12 EXON Missense_C179R exm17102 1 12835994 [T/C] NM_001080830 PRAMEF12 EXON Missense_T199M exm17111 1 12836101 [A/C] NM_001080830 PRAMEF12 EXON Missense_L235I exm17119 1 12837153 [A/G] NM_001080830 PRAMEF12 Silent exm1707263 1 12837222 [A/G] NM_001080830 PRAMEF12 EXON Missense_H311R exm17124 1 12837239 [A/G] NM_001080830 PRAMEF12 EXON Missense_S317G exm17127 1 12837311 [A/G] NM_001080830 PRAMEF12 EXON Missense_V341I exm17129 1 12837331 [T/G] NM_001080830 PRAMEF12 EXON Missense_E347D exm17134 1 12837372 [T/A] NM_001080830 PRAMEF12 EXON Missense_V361E exm17152 1 12837570 [A/G] NM_001080830 PRAMEF12 EXON Missense_G427E exm17162 1 12837669 [T/G] NM_001080830 PRAMEF12 EXON Missense_G460V exm17166 1 12837720 [A/G] NM_001080830 PRAMEF12 EXON Missense_C477Y exm17168 1 12837728 [A/G] NM_001080830 PRAMEF12 EXON Missense_G480S exm17235 1 12854507 [A/G] NM_023013 PRAMEF1 EXON Missense_H244R exm2268651 1 12866899 [T/G] exm17346 1 12887332 [A/C] NM_001146344 PRAMEF11 EXON Missense_K175N exm17419 1 12907683 [A/G] NM_001146181,NM_001013631 LOC649330,HNRNPCL1 EXON Nonsense_R154X,Nonsense_R154X exm17420 1 12907689 [T/A] NM_001146181,NM_001013631 LOC649330,HNRNPCL1 EXON Missense_T152S,Missense_T152S exm17421 1 12907701 [C/G] NM_001146181,NM_001013631 LOC649330,HNRNPCL1 EXON Missense_L148V,Missense_L148V exm17491 1 12919081 [T/C] NM_023014 PRAMEF2 EXON Missense_L73F exm17499 1 12919111 [A/G] NM_023014 PRAMEF2 EXON Missense_E83K exm17540 1 12919838 [A/C] NM_023014 PRAMEF2 EXON Missense_K193T exm17543 1 12919872 [T/G] NM_023014 PRAMEF2 EXON Missense_I204M exm17545 1 12919889 [T/G] NM_023014 PRAMEF2 EXON Missense_L210R exm17546 1 12919891 [T/G] NM_023014 PRAMEF2 EXON Nonsense_E211X exm17550 1 12919928 [A/G] NM_023014 PRAMEF2 EXON Missense_K223R exm17559 1 12919994 [A/C] NM_023014 PRAMEF2 EXON Missense_Y245S exm17566 1 12920053 [A/G] NM_023014 PRAMEF2 EXON Missense_R265G exm17582 1 12921110 [A/G] NM_023014 PRAMEF2 EXON Missense_T301A exm17585 1 12921114 [A/G] NM_023014 PRAMEF2 EXON Missense_C302Y exm17589 1 12921132 [A/G] NM_023014 PRAMEF2 EXON Missense_E308G exm17593 1 12921156 [A/T] NM_023014 PRAMEF2 EXON Missense_F316Y exm17603 1 12921246 [A/G] NM_023014 PRAMEF2 EXON Missense_K346R exm1707418 1 12921252 [T/C] NM_023014 PRAMEF2 EXON Missense_A348V exm17605 1 12921254 [A/G] NM_023014 PRAMEF2 EXON Missense_A349T exm17606 1 12921255 [T/C] NM_023014 PRAMEF2 EXON Missense_A349V exm17609 1 12921272 [A/G] NM_023014 PRAMEF2 EXON Missense_V355M exm17612 1 12921278 [A/G] NM_023014 PRAMEF2 EXON Missense_E357K exm17613 1 12921311 [A/G] NM_023014 PRAMEF2 EXON Missense_A368T exm18068 1 13183015 [C/G] NM_001136561 LOC440563 EXON Missense_S286R exm18070 1 13183032 [T/C] NM_001136561 LOC440563 EXON Missense_E281K exm18071 1 13183045 [A/C] NM_001136561 LOC440563 EXON Missense_D276E exm18072 1 13183046 [T/C] NM_001136561 LOC440563 EXON Missense_D276G exm18547 1 13802325 [T/C] NM_001010847 LRRC38 EXON Missense_K292E exm18549 1 13802373 [A/G] NM_001010847 LRRC38 EXON Missense_L276F exm18560 1 13839770 [T/C] NM_001010847 LRRC38 EXON Missense_V107M exm2264988 1 13842586 [A/G] exm18565 1 13910346 [T/C] NM_006474,NM_198389 PDPN,PDPN EXON Missense_R16W,Missense_R16W exm18566 1 13910353 [A/C] NM_006474,NM_198389 PDPN,PDPN EXON Missense_P18H,Missense_P18H exm18573 1 13910419 [G/C] NM_006474,NM_198389 PDPN,PDPN EXON Missense_P40R,Missense_P40R exm18576 1 13910521 [T/C] NM_006474,NM_198389 PDPN,PDPN EXON Missense_T74M,Missense_T74M exm18587 1 13933727 [A/G] NM_006474,NM_198389,NM_001006624,NM_001006625 PDPN,PDPN,PDPN,PDPN EXON Missense_M119V,Missense_M119V,Missense_M1V,Missense_M1V exm1709179 1 13936955 [T/C] NM_006474,NM_198389,NM_001006624,NM_001006625 PDPN,PDPN,PDPN,PDPN EXON Missense_A168V,Missense_A168V,Missense_A50V,Missense_A50V exm18606 1 13940864 [G/C] NM_006474,NM_198389,NM_001006624,NM_001006625 PDPN,PDPN,PDPN,PDPN EXON Missense_A223G,Missense_A223G,Missense_A105G,Missense_A105G exm18628 1 14059374 [A/G] NM_001135610,NM_015866,NM_012231 PRDM2,PRDM2,PRDM2 EXON Nonsense_W76X,Nonsense_W76X,Nonsense_W76X exm2231025 1 14068545 [C/G] NM_001135610,NM_015866,NM_012231 PRDM2,PRDM2,PRDM2 EXON Missense_P93A,Missense_P93A,Missense_P93A exm18641 1 14075946 [C/G] NM_001135610,NM_015866,NM_012231,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Missense_A159P,Missense_A159P,Missense_A159P,Silent exm18642 1 14075947 [T/C] NM_001135610,NM_015866,NM_012231,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Missense_A159V,Missense_A159V,Missense_A159V,Silent exm-rs1210110 1 14096821 [T/C] NM_001135610,NM_015866,NM_012231,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 Silent,Silent,Silent,Silent exm18645 1 14099574 [A/G] NM_001135610,NM_015866,NM_012231,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Synonymous_G171G,Synonymous_G171G,Silent exm18656 1 14105049 [A/C] NM_001135610,NM_015866,NM_012231,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_D253E,Missense_D253E,Missense_D52E exm18657 1 14105062 [A/G] NM_001135610,NM_015866,NM_012231,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_A258T,Missense_A258T,Missense_A57T exm18664 1 14105139 [A/T] NM_001135610,NM_015866,NM_012231,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_D283E,Missense_D283E,Missense_D82E exm18666 1 14105142 [A/T] NM_001135610,NM_015866,NM_012231,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_D284E,Missense_D284E,Missense_D83E exm18668 1 14105222 [A/G] NM_001135610,NM_015866,NM_012231,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_R311Q,Missense_R311Q,Missense_R110Q exm18671 1 14105291 [A/G] NM_001135610,NM_015866,NM_012231,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_C334Y,Missense_C334Y,Missense_C133Y exm18684 1 14105605 [A/G] NM_001135610,NM_015866,NM_012231,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_N439D,Missense_N439D,Missense_N238D exm18687 1 14105639 [A/G] NM_001135610,NM_015866,NM_012231,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_S450N,Missense_S450N,Missense_S249N exm18688 1 14105677 [A/G] NM_001135610,NM_015866,NM_012231,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_A463T,Missense_A463T,Missense_A262T exm18692 1 14105726 [T/G] NM_001135610,NM_015866,NM_012231,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_V479G,Missense_V479G,Missense_V278G exm18712 1 14106145 [T/C] NM_001135610,NM_015866,NM_012231,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_P619S,Missense_P619S,Missense_P418S exm18722 1 14106400 [C/G] NM_001135610,NM_015866,NM_012231,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_A704P,Missense_A704P,Missense_A503P exm18728 1 14106457 [T/G] NM_001135610,NM_015866,NM_012231,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_A723S,Missense_A723S,Missense_A522S exm18729 1 14106463 [A/G] NM_001135610,NM_015866,NM_012231,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_M725V,Missense_M725V,Missense_M524V exm18735 1 14106620 [C/G] NM_001135610,NM_015866,NM_012231,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_S777T,Missense_S777T,Missense_S576T exm18736 1 14106623 [A/T] NM_001135610,NM_015866,NM_012231,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_H778L,Missense_H778L,Missense_H577L exm18738 1 14106705 [A/G] NM_001135610,NM_015866,NM_012231,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_M805I,Missense_M805I,Missense_M604I exm18750 1 14107112 [T/C] NM_001135610,NM_015866,NM_012231,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_T941I,Missense_T941I,Missense_T740I exm18751 1 14107135 [C/G] NM_001135610,NM_015866,NM_012231,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_P949A,Missense_P949A,Missense_P748A exm18757 1 14107195 [T/G] NM_001135610,NM_015866,NM_012231,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_D969Y,Missense_D969Y,Missense_D768Y exm18762 1 14107267 [A/G] NM_001135610,NM_015866,NM_012231,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_V993I,Missense_V993I,Missense_V792I exm18766 1 14107360 [A/T] NM_001135610,NM_015866,NM_012231,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_S1024T,Missense_S1024T,Missense_S823T exm18773 1 14107544 [T/C] NM_001135610,NM_015866,NM_012231,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_V1085A,Missense_V1085A,Missense_V884A exm18776 1 14107568 [T/C] NM_001135610,NM_015866,NM_012231,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_A1093V,Missense_A1093V,Missense_A892V exm18780 1 14107643 [T/C] NM_001135610,NM_015866,NM_012231,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_S1118F,Missense_S1118F,Missense_S917F exm18782 1 14107658 [T/A] NM_001135610,NM_015866,NM_012231,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_D1123V,Missense_D1123V,Missense_D922V exm2275424 1 14108437 [A/G] NM_001135610,NM_015866,NM_012231,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_V1383M,Missense_V1383M,Missense_V1182M exm18809 1 14108496 [G/C] NM_001135610,NM_015866,NM_012231,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_R1402S,Missense_R1402S,Missense_R1201S exm18821 1 14108749 [A/C] NM_001135610,NM_015866,NM_012231,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_K1487Q,Missense_K1487Q,Missense_K1286Q exm18825 1 14108821 [A/G] NM_001135610,NM_015866,NM_012231,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_S1511G,Missense_S1511G,Missense_S1310G exm18833 1 14108975 [T/C] NM_001135610,NM_015866,NM_012231,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_S1562L,Missense_S1562L,Missense_S1361L exm18838 1 14109031 [A/G] NM_001135610,NM_015866,NM_012231,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_M1581V,Missense_M1581V,Missense_M1380V exm18841 1 14109080 [A/G] NM_001135610,NM_015866,NM_012231,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_K1597R,Missense_K1597R,Missense_K1396R exm18842 1 14109084 [T/G] NM_001135610,NM_015866,NM_012231,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_N1598K,Missense_N1598K,Missense_N1397K exm18849 1 14109122 [T/A] NM_001135610,NM_015866,NM_012231,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_L1611Q,Missense_L1611Q,Missense_L1410Q exm18850 1 14109125 [A/C] NM_001135610,NM_015866,NM_012231,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_H1612P,Missense_H1612P,Missense_H1411P exm18856 1 14109197 [A/G] NM_001135610,NM_015866,NM_012231,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_R1636Q,Missense_R1636Q,Missense_R1435Q exm18859 1 14109322 [T/C] NM_001135610,NM_015866,NM_012231,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_F1678L,Missense_F1678L,Missense_F1477L exm2231030 1 14142940 [A/G] NM_001135610,NM_012231 PRDM2,PRDM2 EXON Missense_R177H,Synonymous_A1685A exm1709424 1 14142960 [T/C] NM_001135610,NM_012231 PRDM2,PRDM2 EXON Missense_R184W,Missense_A1692V exm18869 1 14143002 [T/C] NM_001135610,NM_012231 PRDM2,PRDM2 EXON Nonsense_Q198X,Missense_P1706L exm18870 1 14143003 [A/G] NM_001135610,NM_012231 PRDM2,PRDM2 EXON Missense_Q198R,Synonymous_P1706P exm18873 1 14149668 [T/G] NM_001135610,NM_012231 PRDM2,PRDM2 EXON Missense_W224G,Silent exm18874 1 14149672 [A/G] NM_001135610,NM_012231 PRDM2,PRDM2 EXON Missense_N225S,Silent exm2249847 1 14281451 [T/C] exm-rs7414562 1 14359780 [A/G] exm2264989 1 14579733 [A/G] exm-rs7555566 1 14804874 [A/G] exm2264990 1 15286096 [A/G] NM_201628,NM_015209,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent,Silent exm18885 1 15287201 [T/C] NM_201628,NM_015209,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN EXON Missense_S83L,Missense_S83L,Missense_S77L,Silent,Silent exm1715736 1 15370498 [T/C] NM_201628,NM_015209,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN EXON Missense_A190V,Missense_A190V,Missense_A184V,Missense_A96V,Missense_A96V exm18935 1 15370588 [T/C] NM_201628,NM_015209,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN EXON Missense_T220M,Missense_T220M,Missense_T214M,Missense_T126M,Missense_T126M exm18940 1 15382587 [A/G] NM_201628,NM_015209,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN EXON Missense_A243T,Missense_A243T,Missense_A237T,Missense_A149T,Missense_A149T exm18952 1 15382771 [A/G] NM_201628,NM_015209,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN EXON Missense_R304Q,Missense_R304Q,Missense_R298Q,Missense_R210Q,Missense_R210Q exm18990 1 15420846 [A/G] NM_201628 KAZN EXON Missense_V465I exm18992 1 15420859 [T/C] NM_201628 KAZN EXON Missense_T469M exm18998 1 15428057 [T/G] NM_201628 KAZN EXON Missense_E522D exm19005 1 15429876 [T/C] NM_201628 KAZN EXON Missense_R601C exm19006 1 15429886 [T/C] NM_201628 KAZN EXON Missense_T604M exm19016 1 15430666 [A/G] NM_201628 KAZN EXON Missense_A677T exm19021 1 15438981 [A/G] NM_201628,NR_027136 KAZN,TMEM51-AS1 EXON Missense_V703I,Silent exm19023 1 15438990 [A/G] NM_201628,NR_027136 KAZN,TMEM51-AS1 EXON Missense_A706T,Silent exm19024 1 15439009 [A/G] NM_201628,NR_027136 KAZN,TMEM51-AS1 EXON Missense_S712N,Silent exm19032 1 15441090 [T/C] NM_201628,NR_027136 KAZN,TMEM51-AS1 EXON Missense_R763C,Silent exm19048 1 15541621 [T/C] NM_001136217,NM_001136216,NM_018022,NM_001136218 TMEM51,TMEM51,TMEM51,TMEM51 EXON Missense_A13V,Missense_A13V,Missense_A13V,Missense_A13V exm19052 1 15541704 [A/G] NM_001136217,NM_001136216,NM_018022,NM_001136218 TMEM51,TMEM51,TMEM51,TMEM51 EXON Missense_E41K,Missense_E41K,Missense_E41K,Missense_E41K exm19065 1 15545979 [A/G] NM_001136217,NM_001136216,NM_018022,NM_001136218 TMEM51,TMEM51,TMEM51,TMEM51 EXON Missense_D168N,Missense_D168N,Missense_D168N,Missense_D168N exm19066 1 15545997 [T/G] NM_001136217,NM_001136216,NM_018022,NM_001136218 TMEM51,TMEM51,TMEM51,TMEM51 EXON Missense_S174A,Missense_S174A,Missense_S174A,Missense_S174A exm19068 1 15546012 [A/G] NM_001136217,NM_001136216,NM_018022,NM_001136218 TMEM51,TMEM51,TMEM51,TMEM51 EXON Missense_V179M,Missense_V179M,Missense_V179M,Missense_V179M exm19077 1 15546150 [A/G] NM_001136217,NM_001136216,NM_018022,NM_001136218 TMEM51,TMEM51,TMEM51,TMEM51 EXON Missense_V225I,Missense_V225I,Missense_V225I,Missense_V225I exm19080 1 15546219 [A/G] NM_001136217,NM_001136216,NM_018022,NM_001136218 TMEM51,TMEM51,TMEM51,TMEM51 EXON Missense_D248N,Missense_D248N,Missense_D248N,Missense_D248N exm19084 1 15546234 [A/G] NM_001136217,NM_001136216,NM_018022,NM_001136218 TMEM51,TMEM51,TMEM51,TMEM51 EXON Missense_D253N,Missense_D253N,Missense_D253N,Missense_D253N exm2249987 1 15546761 [A/G] NM_001136217,NM_001136216,NM_018022,NM_001136218 TMEM51,TMEM51,TMEM51,TMEM51 EXON Silent,Silent,Silent,Silent exm19088 1 15578302 [A/G] NM_052929 FHAD1 EXON Missense_A8T exm19091 1 15599025 [A/G] NM_052929 FHAD1 EXON Synonymous_P100P exm19096 1 15616087 [T/C] NM_052929 FHAD1 EXON Missense_R165W exm19101 1 15616139 [A/G] NM_052929 FHAD1 EXON Missense_R182H exm19102 1 15616150 [A/G] NM_052929 FHAD1 EXON Missense_V186I exm19105 1 15623224 [T/G] NM_052929 FHAD1 EXON Missense_G205W exm19108 1 15627776 [A/G] NM_052929 FHAD1 EXON Missense_V252I exm19109 1 15627824 [A/G] NM_052929 FHAD1 EXON Missense_V268M exm19112 1 15627910 [G/C] NM_052929 FHAD1 EXON Missense_Q296H exm19113 1 15635136 [A/C] NM_052929 FHAD1 EXON Missense_K315Q exm19118 1 15639551 [A/G] NM_052929 FHAD1 Silent exm19119 1 15639581 [A/G] NM_052929 FHAD1 EXON Missense_I356M exm19124 1 15642964 [A/G] NM_052929 FHAD1 Silent exm19127 1 15653555 [G/C] NM_052929 FHAD1 EXON Missense_L492V exm19139 1 15655944 [A/G] NM_052929 FHAD1 EXON Missense_V605M exm19145 1 15668276 [A/G] NM_052929 FHAD1 EXON Missense_G651R exm19147 1 15668319 [A/G] NM_052929 FHAD1 EXON Missense_R665Q exm19151 1 15671649 [T/C] NM_052929 FHAD1 EXON Missense_M712T exm19158 1 15679403 [T/C] NM_052929 FHAD1 EXON Missense_R807C exm19159 1 15679404 [A/G] NM_052929 FHAD1 EXON Missense_R807H exm19162 1 15684661 [G/C] NM_052929 FHAD1 EXON Missense_A851G exm19172 1 15687059 [A/G] NM_052929 FHAD1 EXON Missense_E919G exm19179 1 15689182 [A/T] NM_052929 FHAD1 EXON Missense_T981S exm19184 1 15694072 [A/G] NM_052929 FHAD1 EXON Missense_V1068I exm19195 1 15701116 [T/C] NM_052929 FHAD1 EXON Missense_A1167V exm19206 1 15707775 [A/G] NM_052929 FHAD1 EXON Missense_M1262V exm19207 1 15707853 [A/G] NM_052929 FHAD1 EXON Missense_D1288N exm19210 1 15708540 [A/G] NM_052929 FHAD1 EXON Missense_I1325V exm19232 1 15753662 [A/G] NM_024329 EFHD2 EXON Missense_R158H exm19258 1 15766865 [A/G] NM_007272 CTRC EXON Missense_R37Q exm19262 1 15767020 [A/G] NM_007272 CTRC EXON Nonsense_W55X exm19275 1 15769069 [A/G] NM_007272 CTRC Silent exm19285 1 15771121 [A/G] NM_007272 CTRC EXON Missense_K172E exm19296 1 15772155 [A/G] NM_007272 CTRC EXON Missense_V235I exm19300 1 15772188 [T/C] NM_007272 CTRC EXON Missense_R246C exm19302 1 15772198 [T/C] NM_007272 CTRC EXON Missense_P249L exm19304 1 15772212 [T/C] NM_007272 CTRC EXON Missense_R254W exm19322 1 15783635 [A/G] NM_033440 CELA2A EXON Missense_G32D exm19338 1 15789260 [A/G] NM_033440 CELA2A EXON Missense_R87Q exm1720476 1 15789274 [A/G] NM_033440 CELA2A EXON Missense_V92I exm19345 1 15789304 [T/G] NM_033440 CELA2A EXON Missense_V102F exm-rs2901964 1 15792426 [C/G] NM_033440 CELA2A Silent exm19366 1 15792497 [A/G] NM_033440 CELA2A EXON Missense_N166S exm19367 1 15792568 [A/G] NM_033440 CELA2A EXON Missense_A190T exm19368 1 15792586 [A/G] NM_033440 CELA2A EXON Missense_V196M exm19374 1 15793924 [A/G] NM_033440 CELA2A EXON Missense_R228Q exm19385 1 15794011 [A/G] NM_033440 CELA2A EXON Missense_N257S exm19386 1 15794032 [T/C] NM_033440 CELA2A EXON Missense_S264L exm19422 1 15808767 [A/G] NM_015849 CELA2B EXON Missense_G79R exm19431 1 15808872 [A/G] NM_015849 CELA2B EXON Missense_D114N exm19439 1 15812401 [A/G] NM_015849 CELA2B EXON Missense_G167R exm19441 1 15812432 [A/G] NM_015849 CELA2B EXON Missense_Q177R exm19457 1 15813843 [A/G] NM_015849 CELA2B EXON Missense_G235S exm19458 1 15813844 [T/G] NM_015849 CELA2B EXON Missense_G235V exm19460 1 15813891 [A/G] NM_015849 CELA2B EXON Missense_I251V exm19463 1 15813922 [A/G] NM_015849 CELA2B EXON Nonsense_W261X exm19473 1 15820448 [T/G] NM_001229,NM_032996 CASP9,CASP9 EXON Missense_T366N,Missense_T283N exm19495 1 15832495 [T/G] NM_001229,NM_032996 CASP9,CASP9 EXON Missense_H237P,Missense_H154P exm19502 1 15832543 [T/C] NM_001229,NM_032996 CASP9,CASP9 EXON Missense_Q221R,Missense_Q138R exm19507 1 15833399 [T/C] NM_001229,NM_032996 CASP9,CASP9 EXON Missense_A209T,Missense_A126T exm19511 1 15833450 [A/G] NM_001229,NM_032996 CASP9,CASP9 EXON Missense_R192C,Missense_R109C exm2277005 1 15833469 [A/G] NM_001229,NM_032996 CASP9,CASP9 EXON Synonymous_I185I,Synonymous_I102I exm19516 1 15833492 [A/G] NM_001229,NM_032996 CASP9,CASP9 EXON Missense_R178C,Missense_R95C exm19521 1 15833506 [T/C] NM_001229,NM_032996 CASP9,CASP9 EXON Missense_R173H,Missense_R90H exm19525 1 15833555 [T/C] NM_001229,NM_032996 CASP9,CASP9 EXON Missense_M157V,Missense_M74V exm19530 1 15844606 [A/G] NM_001229,NM_032996 CASP9,CASP9 EXON Synonymous_V139V,Synonymous_V56V exm19536 1 15844653 [A/C] NM_001229,NM_032996 CASP9,CASP9 EXON Nonsense_E124X,Nonsense_E41X exm19537 1 15844655 [A/G] NM_001229,NM_032996 CASP9,CASP9 EXON Missense_P123L,Missense_P40L exm19541 1 15844718 [A/G] NM_001229,NM_032996 CASP9,CASP9 EXON Missense_T102I,Missense_T19I exm19545 1 15844755 [A/G] NM_001229,NM_032996 CASP9,CASP9 EXON Nonsense_R90X,Nonsense_R7X exm19554 1 15844872 [A/G] NM_001229,NM_032996 CASP9,CASP9 EXON Missense_R51W,Silent exm19561 1 15850613 [A/G] NM_001229,NM_032996 CASP9,CASP9 EXON Missense_A28V,Silent exm19571 1 15855642 [A/G] NM_015291 DNAJC16 EXON Missense_I14M exm19578 1 15855760 [T/C] NM_015291 DNAJC16 EXON Missense_R54W exm1720950 1 15855761 [A/G] NM_015291 DNAJC16 EXON Missense_R54Q exm19603 1 15871023 [A/G] NM_015291 DNAJC16 EXON Missense_R235H exm19623 1 15886040 [A/G] NM_015291 DNAJC16 EXON Missense_Q348R exm19629 1 15888644 [A/G] NM_015291 DNAJC16 EXON Missense_V388M exm19633 1 15890424 [A/G] NM_015291 DNAJC16 EXON Missense_V447M exm19635 1 15890443 [A/G] NM_015291 DNAJC16 EXON Missense_R453H exm19647 1 15892577 [T/C] NM_015291 DNAJC16 EXON Synonymous_S560S exm19648 1 15892578 [A/G] NM_015291 DNAJC16 EXON Missense_D561N exm2231565 1 15893676 [A/G] NM_015291 DNAJC16 EXON Missense_G621S exm19685 1 15900221 [T/A] NM_024758 AGMAT Silent exm19696 1 15904318 [T/C] NM_024758 AGMAT EXON Synonymous_S254S exm2250042 1 15904318 [T/C] NM_024758 AGMAT EXON Synonymous_S254S exm19700 1 15905363 [T/G] NM_024758 AGMAT EXON Missense_N237K exm19702 1 15905388 [A/G] NM_024758 AGMAT EXON Missense_T229M exm19703 1 15905400 [T/C] NM_024758 AGMAT EXON Missense_R225Q exm19704 1 15905401 [A/G] NM_024758 AGMAT EXON Missense_R225W exm19722 1 15909744 [T/C] NM_024758 AGMAT EXON Missense_R140Q exm19728 1 15909850 [G/C] NM_024758 AGMAT EXON Missense_G105R exm19733 1 15911206 [T/C] NM_024758 AGMAT EXON Missense_N86S exm19752 1 15953261 [A/G] NM_032341 DDI2 EXON Missense_N79S exm19760 1 15956880 [A/G] NM_032341 DDI2 EXON Missense_R110H exm19779 1 15978294 [T/C] NM_032341 DDI2 EXON Missense_R363W exm1721914 1 15978331 [T/C] NM_032341 DDI2 EXON Missense_P375L exm19784 1 15986365 [T/C] NM_032341,NM_006511 DDI2,RSC1A1 EXON Silent,Missense_M1T exm19788 1 15986442 [A/G] NM_032341,NM_006511 DDI2,RSC1A1 EXON Silent,Missense_M27V exm19789 1 15986454 [T/C] NM_032341,NM_006511 DDI2,RSC1A1 EXON Silent,Missense_R31C exm19794 1 15986574 [G/C] NM_032341,NM_006511 DDI2,RSC1A1 EXON Silent,Missense_H71D exm19797 1 15986623 [T/C] NM_032341,NM_006511 DDI2,RSC1A1 EXON Silent,Missense_A87V exm19802 1 15986868 [A/G] NM_032341,NM_006511 DDI2,RSC1A1 EXON Silent,Missense_E169K exm19803 1 15986917 [A/G] NM_032341,NM_006511 DDI2,RSC1A1 EXON Silent,Missense_H185R exm19805 1 15986940 [A/G] NM_032341,NM_006511 DDI2,RSC1A1 EXON Silent,Missense_I193V exm19806 1 15986977 [T/A] NM_032341,NM_006511 DDI2,RSC1A1 EXON Silent,Missense_N205I exm19810 1 15987052 [T/C] NM_032341,NM_006511 DDI2,RSC1A1 EXON Silent,Missense_A230V exm1722074 1 15987069 [T/C] NM_032341,NM_006511 DDI2,RSC1A1 EXON Silent,Missense_S236P exm19817 1 15987175 [A/G] NM_032341,NM_006511 DDI2,RSC1A1 EXON Silent,Missense_N271S exm19820 1 15987274 [T/C] NM_032341,NM_006511 DDI2,RSC1A1 EXON Silent,Missense_S304F exm19825 1 15987421 [T/C] NM_032341,NM_006511 DDI2,RSC1A1 EXON Silent,Missense_T353M exm19834 1 15987652 [C/G] NM_006511 RSC1A1 EXON Missense_T430R exm19836 1 15987655 [T/G] NM_006511 RSC1A1 EXON Missense_G431V exm19838 1 15987709 [T/A] NM_006511 RSC1A1 EXON Missense_L449Q exm19841 1 15987724 [T/C] NM_006511 RSC1A1 EXON Missense_S454L exm19842 1 15987735 [T/G] NM_006511 RSC1A1 EXON Nonsense_E458X exm19848 1 15987888 [A/G] NM_006511 RSC1A1 EXON Missense_E509K exm19851 1 15987963 [C/G] NM_006511 RSC1A1 EXON Missense_D534H exm19853 1 15988041 [T/C] NM_006511 RSC1A1 EXON Missense_P560S exm19870 1 16042766 [T/C] NM_015164 PLEKHM2 EXON Missense_I32T exm19917 1 16053627 [T/C] NM_015164 PLEKHM2 EXON Missense_R354C exm19919 1 16053633 [A/G] NM_015164 PLEKHM2 EXON Missense_G356S exm19923 1 16053682 [T/C] NM_015164 PLEKHM2 EXON Missense_P372L exm19927 1 16053732 [T/G] NM_015164 PLEKHM2 EXON Missense_S389A exm1722835 1 16053822 [A/G] NM_015164 PLEKHM2 EXON Missense_G419R exm19933 1 16053853 [A/G] NM_015164 PLEKHM2 EXON Missense_R429H exm19935 1 16053916 [T/C] NM_015164 PLEKHM2 EXON Missense_P450L exm19944 1 16054062 [T/G] NM_015164 PLEKHM2 EXON Missense_A499S exm19960 1 16054813 [A/G] NM_015164 PLEKHM2 EXON Missense_V628M exm19976 1 16057046 [A/G] NM_015164 PLEKHM2 EXON Missense_R743H exm19979 1 16057147 [A/G] NM_015164 PLEKHM2 EXON Missense_M777V exm1722912 1 16058436 [A/G] NM_015164 PLEKHM2 EXON Missense_A840T exm19995 1 16058484 [A/G] NM_015164 PLEKHM2 EXON Missense_E856K exm2231605 1 16058989 [A/G] NM_015164 PLEKHM2 EXON Missense_V924I exm20018 1 16060330 [A/C] NM_015164 PLEKHM2 EXON Missense_N987K exm20023 1 16060413 [A/G] NM_015164 PLEKHM2 EXON Missense_R1015Q exm20028 1 16063152 [A/G] NM_207348 SLC25A34 EXON Missense_A58T exm1722968 1 16063314 [A/G] NM_207348 SLC25A34 EXON Missense_V112M exm20046 1 16064618 [T/C] NM_207348 SLC25A34 EXON Missense_R159W exm20051 1 16064670 [A/G] NM_207348 SLC25A34 EXON Missense_R176Q exm20055 1 16065136 [C/G] NM_207348 SLC25A34 EXON Missense_I215M exm1723026 1 16065144 [T/C] NM_207348 SLC25A34 EXON Missense_I218T exm20056 1 16065158 [A/G] NM_207348 SLC25A34 EXON Missense_V223I exm20061 1 16065188 [T/C] NM_207348 SLC25A34 EXON Missense_R233W exm2231606 1 16065204 [T/C] NM_207348 SLC25A34 EXON Missense_P238L exm2231608 1 16065743 [T/G] NM_207348 SLC25A34 EXON Missense_D253Y exm20072 1 16065806 [A/G] NM_207348 SLC25A34 EXON Missense_A274T exm1723035 1 16065816 [A/G] NM_207348 SLC25A34 EXON Missense_R277H exm20080 1 16065878 [T/C] NM_207348 SLC25A34 EXON Missense_R298W exm20090 1 16069071 [T/C] NM_001013641 TMEM82 EXON Missense_S6F exm20093 1 16069104 [T/G] NM_001013641 TMEM82 EXON Missense_L17R exm20103 1 16069525 [T/C] NM_001013641 TMEM82 EXON Missense_R58W exm20111 1 16069612 [A/G] NM_001013641 TMEM82 EXON Missense_V87M exm20115 1 16069648 [T/C] NM_001013641 TMEM82 EXON Missense_F99L exm20118 1 16069664 [T/C] NM_001013641 TMEM82 EXON Missense_V104A exm20122 1 16070707 [T/C] NM_001013641 TMEM82 EXON Missense_S130L exm1723158 1 16070754 [A/G] NM_001013641 TMEM82 EXON Missense_A146T exm20133 1 16070871 [T/C] NM_001013641 TMEM82 EXON Missense_R185C exm20137 1 16070922 [T/C] NM_001013641 TMEM82 EXON Nonsense_Q202X exm20142 1 16071010 [T/C] NM_001013641 TMEM82 EXON Missense_S231L exm20143 1 16071015 [A/G] NM_001013641 TMEM82 EXON Missense_A233T exm20144 1 16071022 [A/G] NM_001013641 TMEM82 EXON Missense_R235Q exm20149 1 16071058 [T/G] NM_001013641 TMEM82 EXON Missense_L247R exm1723205 1 16073432 [A/C] NM_001013641 TMEM82 EXON Missense_F276L exm20166 1 16073524 [A/C] NM_001013641 TMEM82 EXON Missense_T307N exm20181 1 16091591 [A/G] NM_017556,NM_001024215,NM_001024216 FBLIM1,FBLIM1,FBLIM1 EXON Missense_R38Q,Missense_R38Q,Missense_R38Q exm20182 1 16091593 [T/C] NM_017556,NM_001024215,NM_001024216 FBLIM1,FBLIM1,FBLIM1 EXON Missense_R39C,Missense_R39C,Missense_R39C exm20199 1 16093939 [A/C] NM_017556,NM_001024215,NM_001024216 FBLIM1,FBLIM1,FBLIM1 EXON Missense_P107T,Missense_P107T,Silent exm20200 1 16093946 [T/C] NM_017556,NM_001024215,NM_001024216 FBLIM1,FBLIM1,FBLIM1 EXON Missense_P109L,Missense_P109L,Silent exm20212 1 16095093 [T/C] NM_017556,NM_001024215,NM_001024216 FBLIM1,FBLIM1,FBLIM1 EXON Missense_P170L,Missense_P170L,Silent exm20214 1 16095104 [A/G] NM_017556,NM_001024215,NM_001024216 FBLIM1,FBLIM1,FBLIM1 EXON Missense_V174I,Missense_V174I,Silent exm20219 1 16096939 [T/C] NM_017556,NM_001024215,NM_001024216 FBLIM1,FBLIM1,FBLIM1 EXON Nonsense_R193X,Nonsense_R193X,Nonsense_R96X exm20220 1 16096951 [A/G] NM_017556,NM_001024215,NM_001024216 FBLIM1,FBLIM1,FBLIM1 EXON Missense_V197M,Missense_V197M,Missense_V100M exm20233 1 16101152 [T/C] NM_017556,NM_001024215,NM_001024216 FBLIM1,FBLIM1,FBLIM1 EXON Missense_R251W,Missense_R251W,Missense_R154W exm20241 1 16101228 [T/C] NM_017556,NM_001024215,NM_001024216 FBLIM1,FBLIM1,FBLIM1 EXON Missense_I276T,Missense_I276T,Missense_I179T exm2273616 1 16101302 [G/C] NM_017556,NM_001024215,NM_001024216 FBLIM1,FBLIM1,FBLIM1 EXON Silent,Missense_G301R,Silent exm20247 1 16101323 [T/G] NM_017556,NM_001024215,NM_001024216 FBLIM1,FBLIM1,FBLIM1 EXON Silent,Missense_A308S,Silent exm20248 1 16101332 [A/G] NM_017556,NM_001024215,NM_001024216 FBLIM1,FBLIM1,FBLIM1 EXON Silent,Missense_G311R,Silent exm20280 1 16134072 [T/C] NM_001089591 UQCRHL EXON Missense_E25K exm20290 1 16199526 [A/G] NM_015001 SPEN EXON Missense_R100H exm2250090 1 16199620 [A/G] NM_015001 SPEN EXON Synonymous_R131R exm20292 1 16199620 [A/G] NM_015001 SPEN EXON Synonymous_R131R exm20299 1 16202843 [A/G] NM_015001 SPEN EXON Missense_Y184C exm20300 1 16202845 [A/G] NM_015001 SPEN EXON Missense_A185T exm20324 1 16235842 [A/G] NM_015001 SPEN EXON Missense_D303G exm2250099 1 16245979 [A/T] NM_015001 SPEN EXON Synonymous_T534T exm20341 1 16247386 [A/G] NM_015001 SPEN EXON Missense_G553S exm20350 1 16254702 [A/G] NM_015001 SPEN EXON Missense_E656G exm20352 1 16254852 [A/G] NM_015001 SPEN EXON Missense_R706H exm20354 1 16254932 [T/C] NM_015001 SPEN EXON Missense_R733C exm20355 1 16255007 [T/C] NM_015001 SPEN EXON Nonsense_R758X exm20361 1 16255086 [A/G] NM_015001 SPEN EXON Missense_R784H exm20363 1 16255157 [T/G] NM_015001 SPEN EXON Missense_L808V exm20367 1 16255205 [T/C] NM_015001 SPEN EXON Missense_R824C exm20377 1 16255500 [T/C] NM_015001 SPEN EXON Missense_T922M exm1725843 1 16255562 [A/G] NM_015001 SPEN EXON Missense_K943E exm20381 1 16255644 [T/C] NM_015001 SPEN EXON Missense_A970V exm20383 1 16255754 [A/C] NM_015001 SPEN EXON Missense_P1007T exm20387 1 16255799 [A/G] NM_015001 SPEN EXON Missense_V1022M exm20395 1 16256162 [T/C] NM_015001 SPEN EXON Missense_R1143C exm20399 1 16256300 [T/C] NM_015001 SPEN EXON Missense_S1189P exm20401 1 16256357 [A/G] NM_015001 SPEN EXON Missense_V1208I exm20404 1 16256519 [T/C] NM_015001 SPEN EXON Missense_P1262S exm20406 1 16256547 [A/C] NM_015001 SPEN EXON Missense_E1271A exm20408 1 16256621 [C/G] NM_015001 SPEN EXON Missense_P1296A exm20416 1 16256824 [T/G] NM_015001 SPEN EXON Missense_D1363E exm20424 1 16257159 [A/G] NM_015001 SPEN EXON Missense_R1475Q exm20427 1 16257285 [T/A] NM_015001 SPEN EXON Missense_E1517V exm2231684 1 16257398 [T/C] NM_015001 SPEN EXON Missense_F1555L exm20439 1 16257645 [T/C] NM_015001 SPEN EXON Missense_V1637A exm20442 1 16257671 [A/T] NM_015001 SPEN EXON Missense_T1646S exm20448 1 16257918 [T/C] NM_015001 SPEN EXON Missense_P1728L exm2250101 1 16257979 [T/C] NM_015001 SPEN EXON Synonymous_N1748N exm20458 1 16258070 [A/G] NM_015001 SPEN EXON Missense_A1779T exm20460 1 16258118 [T/C] NM_015001 SPEN EXON Missense_P1795S exm20480 1 16258493 [A/G] NM_015001 SPEN EXON Missense_V1920I exm20486 1 16258610 [G/C] NM_015001 SPEN EXON Missense_R1959G exm20495 1 16258756 [A/T] NM_015001 SPEN EXON Missense_D2007E exm20496 1 16258799 [A/G] NM_015001 SPEN EXON Missense_G2022S exm20498 1 16258802 [A/G] NM_015001 SPEN EXON Missense_V2023M exm20508 1 16259127 [A/G] NM_015001 SPEN EXON Missense_D2131G exm20517 1 16259202 [C/G] NM_015001 SPEN EXON Missense_S2156C exm20518 1 16259205 [T/G] NM_015001 SPEN EXON Missense_G2157V exm20533 1 16259444 [C/G] NM_015001 SPEN EXON Missense_P2237A exm1725947 1 16259454 [T/C] NM_015001 SPEN EXON Missense_P2240L exm20548 1 16259813 [A/G] NM_015001 SPEN EXON Missense_N2360D exm20561 1 16260012 [T/C] NM_015001 SPEN EXON Missense_S2426F exm20567 1 16260140 [A/G] NM_015001 SPEN EXON Missense_I2469V exm20571 1 16260264 [T/C] NM_015001 SPEN EXON Missense_A2510V exm20576 1 16260392 [A/G] NM_015001 SPEN EXON Missense_S2553G exm20580 1 16260513 [A/G] NM_015001 SPEN EXON Missense_N2593S exm20583 1 16260579 [T/C] NM_015001 SPEN EXON Missense_A2615V exm20585 1 16260606 [A/G] NM_015001 SPEN EXON Missense_R2624Q exm20586 1 16260692 [A/G] NM_015001 SPEN EXON Missense_A2653T exm20589 1 16260803 [A/G] NM_015001 SPEN EXON Missense_V2690M exm20591 1 16260845 [A/G] NM_015001 SPEN EXON Missense_V2704M exm20598 1 16260963 [T/C] NM_015001 SPEN EXON Missense_A2743V exm20600 1 16260996 [T/C] NM_015001 SPEN EXON Missense_T2754M exm20602 1 16261019 [A/C] NM_015001 SPEN EXON Missense_M2762L exm20613 1 16261256 [A/G] NM_015001 SPEN EXON Missense_S2841G exm20623 1 16261604 [A/G] NM_015001 SPEN EXON Missense_N2957D exm20628 1 16261683 [T/C] NM_015001 SPEN EXON Missense_T2983M exm20630 1 16261685 [T/C] NM_015001 SPEN EXON Missense_P2984S exm20642 1 16262012 [G/C] NM_015001 SPEN EXON Missense_L3093V exm20651 1 16262141 [T/C] NM_015001 SPEN EXON Missense_R3136C exm20656 1 16262306 [A/G] NM_015001 SPEN EXON Missense_V3191M exm20684 1 16262715 [T/C] NM_015001 SPEN EXON Missense_A3327V exm20720 1 16264022 [C/G] NM_015001 SPEN EXON Missense_G3464A exm20722 1 16264027 [A/G] NM_015001 SPEN EXON Missense_S3466G exm20730 1 16264391 [A/G] NM_015001 SPEN EXON Missense_V3532I exm20731 1 16264403 [T/C] NM_015001 SPEN EXON Missense_R3536W exm2250105 1 16269040 [C/G] NM_001242884,NM_003443 ZBTB17,ZBTB17 EXON Synonymous_A592A,Synonymous_A674A exm20768 1 16269040 [C/G] NM_001242884,NM_003443 ZBTB17,ZBTB17 EXON Synonymous_A592A,Synonymous_A674A exm20791 1 16270841 [A/G] NM_001242884,NM_003443 ZBTB17,ZBTB17 EXON Missense_T360M,Missense_T442M exm20812 1 16271656 [T/C] NM_001242884,NM_003443 ZBTB17,ZBTB17 EXON Missense_K153E,Missense_K235E exm20832 1 16272678 [T/C] NM_001242884,NM_003443 ZBTB17,ZBTB17 EXON Missense_R87H,Missense_R169H exm1726152 1 16272694 [T/C] NM_001242884,NM_003443 ZBTB17,ZBTB17 EXON Missense_D82N,Missense_D164N exm20841 1 16273507 [A/G] NM_001242884,NM_003443 ZBTB17,ZBTB17 EXON Missense_R17W,Missense_T106M exm20843 1 16273559 [T/C] NM_001242884,NM_003443 ZBTB17,ZBTB17 EXON Silent,Missense_V89M exm-rs10927875 1 16299312 [T/C] NM_001242884,NM_003443 ZBTB17,ZBTB17 Silent,Silent exm20862 1 16330879 [T/C] NM_178840 C1orf64 EXON Synonymous_S27S exm20870 1 16332543 [A/G] NM_178840 C1orf64 EXON Missense_R71Q exm20872 1 16332563 [A/G] NM_178840 C1orf64 EXON Missense_M78V exm20875 1 16332656 [A/C] NM_178840 C1orf64 EXON Missense_T109P exm20882 1 16332740 [A/G] NM_178840 C1orf64 EXON Missense_G137R exm1726558 1 16332749 [A/G] NM_178840 C1orf64 EXON Missense_V140M exm2231699 1 16332783 [T/G] NM_178840 C1orf64 EXON Missense_G151V exm20891 1 16342103 [T/G] NM_014424 HSPB7 EXON Missense_Q162P exm20893 1 16342124 [A/G] NM_014424 HSPB7 EXON Missense_P155L exm2231700 1 16342146 [T/C] NM_014424 HSPB7 EXON Missense_T148A exm20901 1 16342220 [A/G] NM_014424 HSPB7 EXON Missense_A123V exm20908 1 16343694 [T/C] NM_014424 HSPB7 EXON Missense_G70S exm20909 1 16343699 [G/C] NM_014424 HSPB7 EXON Missense_R68P exm20912 1 16344307 [T/C] NM_014424 HSPB7 EXON Missense_D51G exm20913 1 16344308 [T/C] NM_014424 HSPB7 EXON Missense_D51N exm2264805 1 16344664 [A/G] NM_014424 HSPB7 EXON Silent exm20944 1 16349137 [A/G] NM_001042704,NM_004070,NM_001257139 CLCNKA,CLCNKA,CLCNKA EXON Missense_R8H,Missense_R8H,Missense_R8H exm20955 1 16350315 [A/C] NM_001042704,NM_004070,NM_001257139 CLCNKA,CLCNKA,CLCNKA EXON Missense_Q41K,Missense_Q41K,Missense_Q41K exm20956 1 16350328 [A/G] NM_001042704,NM_004070,NM_001257139 CLCNKA,CLCNKA,CLCNKA EXON Missense_R45H,Missense_R45H,Missense_R45H exm2250114 1 16353926 [A/G] NM_001042704,NM_004070,NM_001257139 CLCNKA,CLCNKA,CLCNKA EXON Synonymous_E259E,Synonymous_E259E,Synonymous_E216E exm20993 1 16354581 [T/C] NM_001042704,NM_004070,NM_001257139 CLCNKA,CLCNKA,CLCNKA EXON Missense_T312I,Missense_T312I,Missense_T269I exm2250115 1 16355310 [A/G] NM_001042704,NM_004070,NM_001257139 CLCNKA,CLCNKA,CLCNKA EXON Synonymous_P341P,Synonymous_P341P,Synonymous_P298P exm21029 1 16356501 [A/G] NM_001042704,NM_004070,NM_001257139 CLCNKA,CLCNKA,CLCNKA EXON Missense_A447T,Missense_A447T,Missense_A404T exm21030 1 16356522 [A/G] NM_001042704,NM_004070,NM_001257139 CLCNKA,CLCNKA,CLCNKA EXON Missense_T454A,Missense_T454A,Missense_T411A exm21081 1 16359717 [A/G] NM_001042704,NM_004070,NM_001257139 CLCNKA,CLCNKA,CLCNKA EXON Missense_R660Q,Missense_R661Q,Missense_R618Q exm21096 1 16371067 [T/G] NM_000085 CLCNKB EXON Missense_R27L exm21108 1 16372124 [T/G] NM_000085 CLCNKB EXON Missense_V58L exm21109 1 16372179 [A/G] NM_000085 CLCNKB EXON Missense_R76Q exm1726897 1 16373080 [A/C] NM_000085 CLCNKB EXON Missense_L94I exm21136 1 16375510 [A/G] NM_000085,NM_001165945 CLCNKB,CLCNKB EXON Silent,Missense_G15E exm21137 1 16375606 [T/C] NM_000085,NM_001165945 CLCNKB,CLCNKB EXON Silent,Missense_S47L exm21152 1 16376312 [T/G] NM_000085,NM_001165945 CLCNKB,CLCNKB EXON Missense_G290V,Missense_G121V exm21155 1 16376332 [A/G] NM_000085,NM_001165945 CLCNKB,CLCNKB EXON Missense_S297G,Missense_S128G exm21163 1 16377042 [G/C] NM_000085,NM_001165945 CLCNKB,CLCNKB EXON Missense_V334L,Missense_V165L exm21193 1 16378220 [A/G] NM_000085,NM_001165945 CLCNKB,CLCNKB EXON Missense_R438H,Missense_R269H exm21194 1 16378223 [T/C] NM_000085,NM_001165945 CLCNKB,CLCNKB EXON Missense_L439P,Missense_L270P exm21206 1 16378747 [A/C] NM_000085,NM_001165945 CLCNKB,CLCNKB EXON Missense_A488D,Missense_A319D exm21233 1 16380196 [T/C] NM_000085,NM_001165945 CLCNKB,CLCNKB EXON Missense_M562T,Missense_M393T exm21238 1 16380243 [A/G] NM_000085,NM_001165945 CLCNKB,CLCNKB EXON Missense_K578E,Missense_K409E exm21243 1 16382003 [A/G] NM_000085,NM_001165945 CLCNKB,CLCNKB EXON Nonsense_W610X,Nonsense_W441X exm21247 1 16382201 [A/G] NM_000085,NM_001165945 CLCNKB,CLCNKB EXON Missense_C626Y,Missense_C456Y exm21253 1 16382916 [A/G] NM_000085,NM_001165945 CLCNKB,CLCNKB Silent,Silent exm21257 1 16382951 [T/C] NM_000085,NM_001165945 CLCNKB,CLCNKB EXON Missense_S655F,Missense_S485F exm21260 1 16382966 [T/C] NM_000085,NM_001165945 CLCNKB,CLCNKB EXON Missense_S660L,Missense_S490L exm21309 1 16386391 [T/C] NM_182623 FAM131C EXON Missense_E142K exm21319 1 16388605 [A/G] NM_182623 FAM131C EXON Missense_S86L exm21338 1 16390081 [A/G] NM_182623 FAM131C EXON Missense_P25S exm-rs9442235 1 16393357 [T/G] NM_182623 FAM131C Silent exm2250132 1 16451722 [T/C] NM_004431 EPHA2 EXON Synonymous_G973G exm21342 1 16451722 [T/C] NM_004431 EPHA2 EXON Synonymous_G973G exm21343 1 16451737 [G/C] NM_004431 EPHA2 EXON Missense_Q968H exm21345 1 16451766 [T/C] NM_004431 EPHA2 EXON Missense_A959T exm2250133 1 16451767 [A/G] NM_004431 EPHA2 EXON Synonymous_I958I exm21347 1 16451804 [T/C] NM_004431 EPHA2 EXON Missense_R946K exm21348 1 16451815 [A/G] NM_004431 EPHA2 EXON Synonymous_D942D exm21356 1 16456083 [T/C] NM_004431 EPHA2 EXON Missense_V891M exm21357 1 16456721 [T/C] NM_004431 EPHA2 EXON Missense_R890H exm21359 1 16456763 [T/C] NM_004431 EPHA2 EXON Missense_R876H exm21360 1 16456811 [T/C] NM_004431 EPHA2 EXON Missense_R860H exm2250135 1 16458317 [T/G] NM_004431 EPHA2 EXON Synonymous_R792R exm21375 1 16458645 [T/C] NM_004431 EPHA2 EXON Missense_V747I exm21377 1 16458722 [T/C] NM_004431 EPHA2 EXON Missense_R721Q exm21393 1 16459744 [T/C] NM_004431 EPHA2 EXON Missense_G662S exm2259836 1 16460541 [T/C] NM_004431 EPHA2 Silent exm21413 1 16460963 [T/C] NM_004431 EPHA2 EXON Missense_R561K exm21417 1 16461024 [T/C] NM_004431 EPHA2 EXON Missense_V541M exm2231711 1 16461546 [T/C] NM_004431 EPHA2 EXON Missense_E523K exm2231712 1 16461581 [A/G] NM_004431 EPHA2 EXON Missense_T511M exm21424 1 16461627 [T/C] NM_004431 EPHA2 EXON Missense_D496N exm21445 1 16464377 [T/C] NM_004431 EPHA2 EXON Missense_R428H exm21451 1 16464489 [T/C] NM_004431 EPHA2 EXON Missense_G391R exm21457 1 16464527 [A/G] NM_004431 EPHA2 EXON Missense_P378L exm21460 1 16464588 [T/C] NM_004431 EPHA2 EXON Missense_E358K exm21462 1 16464612 [T/G] NM_004431 EPHA2 EXON Missense_P350T exm2273617 1 16464614 [A/G] NM_004431 EPHA2 EXON Missense_T349M exm21467 1 16464805 [T/C] NM_004431 EPHA2 EXON Missense_R315Q exm21472 1 16464919 [A/G] NM_004431 EPHA2 EXON Missense_S277L exm21483 1 16475001 [T/C] NM_004431 EPHA2 EXON Missense_D232G exm21485 1 16475047 [T/C] NM_004431 EPHA2 EXON Missense_G217S exm21492 1 16475173 [A/G] NM_004431 EPHA2 EXON Missense_R175C exm21496 1 16475203 [T/C] NM_004431 EPHA2 EXON Missense_V165M exm21506 1 16475419 [A/G] NM_004431 EPHA2 EXON Missense_R93C exm21514 1 16477423 [C/G] NM_004431 EPHA2 EXON Missense_L41V exm21527 1 16525657 [A/G] NM_153213 ARHGEF19 EXON Missense_W747R exm1729071 1 16529016 [T/C] NM_153213 ARHGEF19 EXON Missense_R654Q exm21541 1 16531263 [T/C] NM_153213 ARHGEF19 EXON Missense_R633Q exm21543 1 16531299 [T/C] NM_153213 ARHGEF19 EXON Missense_Y621C exm21560 1 16532434 [A/C] NM_153213 ARHGEF19 EXON Missense_Q481H exm21562 1 16532457 [T/C] NM_153213 ARHGEF19 EXON Missense_A474T exm21565 1 16532498 [A/G] NM_153213 ARHGEF19 EXON Missense_P460L exm21571 1 16532549 [T/A] NM_153213 ARHGEF19 EXON Missense_E443V exm21591 1 16534047 [T/C] NM_153213 ARHGEF19 EXON Missense_E282K exm21594 1 16534074 [T/G] NM_153213 ARHGEF19 EXON Missense_P273T exm21596 1 16534255 [C/G] NM_153213 ARHGEF19 EXON Missense_E238Q exm21601 1 16534523 [A/G] NM_153213 ARHGEF19 EXON Missense_R204W exm21605 1 16534646 [G/C] NM_153213 ARHGEF19 EXON Missense_G163R exm21612 1 16535162 [A/G] NM_153213 ARHGEF19 EXON Missense_H130Y exm21614 1 16535174 [A/G] NM_153213 ARHGEF19 EXON Missense_R126C exm21620 1 16535288 [T/C] NM_153213 ARHGEF19 EXON Missense_E88K exm21625 1 16535435 [T/C] NM_153213 ARHGEF19 EXON Missense_A39T exm2273618 1 16535435 [A/C] NM_153213 ARHGEF19 EXON Missense_A39S exm21633 1 16535497 [T/C] NM_153213 ARHGEF19 EXON Missense_G18D exm21642 1 16558641 [T/C] NM_030907 RSG1 EXON Missense_V227I exm21645 1 16558697 [A/G] NM_030907 RSG1 EXON Missense_P208L exm21649 1 16558748 [A/G] NM_030907 RSG1 EXON Missense_T191I exm21658 1 16559044 [A/C] NM_030907 RSG1 EXON Missense_G163V exm21659 1 16559053 [T/C] NM_030907 RSG1 EXON Missense_R160H exm21675 1 16560108 [A/G] NM_030907 RSG1 EXON Synonymous_T88T exm21682 1 16560248 [A/G] NM_030907 RSG1 EXON Missense_R42W exm21687 1 16563190 [T/G] NM_030907 RSG1 EXON Missense_H16Q exm21694 1 16577377 [T/C] NM_018994 FBXO42 EXON Missense_V648M exm21695 1 16577403 [A/G] NM_018994 FBXO42 EXON Missense_M639T exm21703 1 16577595 [A/G] NM_018994 FBXO42 EXON Missense_A575V exm21709 1 16577794 [T/C] NM_018994 FBXO42 EXON Missense_A509T exm21713 1 16577908 [G/C] NM_018994 FBXO42 EXON Missense_P471A exm21720 1 16578016 [T/C] NM_018994 FBXO42 EXON Missense_G435S exm21788 1 16725270 [T/C] NM_198546 SPATA21 EXON Missense_R467Q exm21789 1 16725271 [A/G] NM_198546 SPATA21 EXON Nonsense_R467X exm21801 1 16727294 [A/G] NM_198546 SPATA21 EXON Synonymous_N365N exm21804 1 16727329 [T/C] NM_198546 SPATA21 EXON Missense_V354I exm21806 1 16727361 [A/C] NM_198546 SPATA21 EXON Missense_G343V exm21807 1 16727364 [T/G] NM_198546 SPATA21 EXON Missense_E342A exm21808 1 16727387 [C/G] NM_198546 SPATA21 EXON Missense_N334K exm21810 1 16730308 [T/G] NM_198546 SPATA21 EXON Missense_H305Q exm21823 1 16731492 [C/G] NM_198546 SPATA21 EXON Missense_E261Q exm21826 1 16731510 [G/C] NM_198546 SPATA21 EXON Missense_V255L exm21827 1 16731518 [A/C] NM_198546 SPATA21 EXON Missense_G252V exm21828 1 16731572 [T/C] NM_198546 SPATA21 EXON Missense_N234S exm21836 1 16735613 [T/C] NM_198546 SPATA21 EXON Missense_A225T exm1732164 1 16736096 [T/C] NM_198546 SPATA21 EXON Missense_R196Q exm21839 1 16736097 [A/G] NM_198546 SPATA21 EXON Missense_R196W exm21843 1 16736138 [A/G] NM_198546 SPATA21 EXON Missense_L182S exm2250195 1 16736272 [A/G] NM_198546 SPATA21 EXON Synonymous_S137S exm21864 1 16736451 [A/G] NM_198546 SPATA21 EXON Missense_L78F exm21868 1 16736484 [C/G] NM_198546 SPATA21 EXON Missense_Q67E exm21870 1 16736526 [T/G] NM_198546 SPATA21 EXON Missense_I53L exm21872 1 16736538 [T/C] NM_198546 SPATA21 EXON Missense_E49K exm21891 1 16767269 [G/C] NM_018090,NM_001145278,NM_001145277 NECAP2,NECAP2,NECAP2 EXON Missense_G5R,Missense_G5R,Missense_G5R exm21897 1 16770143 [G/C] NM_018090,NM_001145278,NM_001145277 NECAP2,NECAP2,NECAP2 EXON Missense_L37V,Missense_L11V,Missense_L37V exm21901 1 16774403 [A/G] NM_018090,NM_001145278,NM_001145277 NECAP2,NECAP2,NECAP2 EXON Missense_G78S,Missense_G52S,Missense_G78S exm21903 1 16774425 [T/C] NM_018090,NM_001145278,NM_001145277 NECAP2,NECAP2,NECAP2 EXON Missense_T85M,Missense_T59M,Missense_T85M exm21911 1 16775632 [G/C] NM_018090,NM_001145278,NM_001145277 NECAP2,NECAP2,NECAP2 EXON Missense_P142R,Missense_P116R,Missense_P142R exm21918 1 16778370 [A/G] NM_018090,NM_001145278,NM_001145277 NECAP2,NECAP2,NECAP2 EXON Missense_R176Q,Missense_R150Q,Missense_R176Q exm21919 1 16778393 [A/G] NM_018090,NM_001145278,NM_001145277 NECAP2,NECAP2,NECAP2 EXON Missense_G184R,Missense_G158R,Missense_G184R exm21928 1 16782322 [T/C] NM_018090,NM_001145278,NM_001145277 NECAP2,NECAP2,NECAP2 EXON Missense_P226L,Missense_P200L,Silent exm21936 1 16785394 [T/C] NM_018090,NM_001145278,NM_001145277 NECAP2,NECAP2,NECAP2 EXON Silent,Silent,Missense_T242M exm21949 1 16890470 [A/C] NM_017940 NBPF1 EXON Missense_W1131C exm21951 1 16890475 [T/C] NM_017940 NBPF1 EXON Missense_T1130A exm22337 1 17248532 [A/G] NM_014675 CROCC EXON Missense_R7G exm22341 1 17249161 [A/C] NM_014675 CROCC EXON Missense_L22M exm1735511 1 17249170 [A/G] NM_014675 CROCC EXON Missense_S25G exm22343 1 17249173 [A/G] NM_014675 CROCC EXON Missense_V26I exm22345 1 17249200 [A/G] NM_014675 CROCC EXON Missense_A35T exm22347 1 17249203 [T/C] NM_014675 CROCC EXON Missense_R36W exm22349 1 17249219 [A/G] NM_014675 CROCC EXON Missense_D41G exm22360 1 17250898 [A/G] NM_014675 CROCC EXON Missense_R92H exm22366 1 17250945 [A/G] NM_014675 CROCC EXON Missense_A108T exm22411 1 17257012 [T/C] NM_014675 CROCC EXON Nonsense_R258X exm22424 1 17257819 [T/C] NM_014675 CROCC EXON Missense_R295C exm22425 1 17257820 [T/G] NM_014675 CROCC EXON Missense_R295L exm22427 1 17257829 [T/C] NM_014675 CROCC EXON Missense_L298P exm22429 1 17257840 [G/C] NM_014675 CROCC EXON Missense_Q302E exm22473 1 17265413 [T/C] NM_014675 CROCC EXON Missense_S462P exm22500 1 17266464 [G/C] NM_014675 CROCC EXON Missense_E562Q exm22511 1 17270614 [T/C] NM_014675 CROCC EXON Missense_H610Y exm22555 1 17273287 [A/G] NM_014675 CROCC EXON Missense_R772Q exm22563 1 17273371 [T/C] NM_014675 CROCC EXON Missense_A800V exm22640 1 17281235 [A/G] NM_014675 CROCC EXON Missense_V1110M exm22644 1 17281268 [T/C] NM_014675 CROCC EXON Missense_R1121W exm22651 1 17281359 [T/C] NM_014675 CROCC EXON Missense_S1151F exm22700 1 17292223 [A/G] NM_014675 CROCC EXON Missense_G1471R exm22758 1 17296315 [C/G] NM_014675 CROCC EXON Missense_E1779D exm22759 1 17296320 [A/G] NM_014675 CROCC EXON Missense_R1781Q exm22762 1 17296392 [A/G] NM_014675 CROCC EXON Missense_R1805Q exm22765 1 17296406 [A/G] NM_014675 CROCC EXON Missense_G1810S exm1735823 1 17296425 [A/G] NM_014675 CROCC EXON Missense_R1816Q exm22766 1 17296755 [A/G] NM_014675 CROCC EXON Missense_R1820Q exm22770 1 17296793 [A/G] NM_014675 CROCC EXON Missense_V1833I exm22772 1 17296818 [A/G] NM_014675 CROCC EXON Missense_R1841Q exm22773 1 17296833 [A/G] NM_014675 CROCC EXON Missense_R1846H exm22779 1 17296893 [A/G] NM_014675 CROCC EXON Missense_R1866H exm22782 1 17297132 [T/C] NM_014675 CROCC EXON Missense_V1885A exm22788 1 17297200 [T/C] NM_014675 CROCC EXON Missense_R1908C exm22794 1 17297252 [A/C] NM_014675 CROCC EXON Missense_Q1925P exm22814 1 17301821 [T/C] NM_002403,NM_017459,NM_001135248,NM_001135247 MFAP2,MFAP2,MFAP2,MFAP2 EXON Missense_V131I,Missense_V131I,Missense_V130I,Missense_V130I exm22816 1 17301832 [T/C] NM_002403,NM_017459,NM_001135248,NM_001135247 MFAP2,MFAP2,MFAP2,MFAP2 EXON Missense_R127H,Missense_R127H,Missense_R126H,Missense_R126H exm22832 1 17303609 [T/C] NM_002403,NM_017459,NM_001135248,NM_001135247 MFAP2,MFAP2,MFAP2,MFAP2 EXON Missense_Q41R,Missense_Q41R,Missense_Q40R,Missense_Q40R exm22833 1 17303630 [T/G] NM_002403,NM_017459,NM_001135248,NM_001135247 MFAP2,MFAP2,MFAP2,MFAP2 EXON Missense_Q34P,Missense_Q34P,Missense_Q33P,Missense_Q33P exm2273620 1 17303651 [A/G] NM_002403,NM_017459,NM_001135248,NM_001135247 MFAP2,MFAP2,MFAP2,MFAP2 EXON Missense_P27L,Missense_P27L,Missense_P26L,Missense_P26L exm22835 1 17303652 [A/G] NM_002403,NM_017459,NM_001135248,NM_001135247 MFAP2,MFAP2,MFAP2,MFAP2 EXON Missense_P27S,Missense_P27S,Missense_P26S,Missense_P26S exm-rs2284746 1 17306675 [C/G] NM_002403,NM_017459,NM_001135248,NM_001135247 MFAP2,MFAP2,MFAP2,MFAP2 Silent,Silent,Silent,Silent exm22841 1 17312485 [T/C] NM_022089,NM_001141973,NM_001141974 ATP13A2,ATP13A2,ATP13A2 EXON Silent,Silent,Missense_V1158M exm22845 1 17312586 [A/G] NM_022089,NM_001141973,NM_001141974 ATP13A2,ATP13A2,ATP13A2 EXON Silent,Silent,Missense_P1124L exm22847 1 17312596 [T/A] NM_022089,NM_001141973,NM_001141974 ATP13A2,ATP13A2,ATP13A2 EXON Silent,Silent,Missense_T1121S exm22854 1 17312743 [T/C] NM_022089,NM_001141973,NM_001141974 ATP13A2,ATP13A2,ATP13A2 EXON Synonymous_P1172P,Synonymous_P1167P,Missense_A1072T exm22856 1 17312787 [A/G] NM_022089,NM_001141973,NM_001141974 ATP13A2,ATP13A2,ATP13A2 EXON Missense_R1158C,Missense_R1153C,Missense_A1057V exm22858 1 17312829 [T/C] NM_022089,NM_001141973,NM_001141974 ATP13A2,ATP13A2,ATP13A2 EXON Missense_A1144T,Missense_A1139T,Missense_R1043H exm22865 1 17313049 [A/G] NM_022089,NM_001141973,NM_001141974 ATP13A2,ATP13A2,ATP13A2 EXON Missense_P1105L,Missense_P1100L,Silent exm22892 1 17313682 [A/G] NM_022089,NM_001141973,NM_001141974 ATP13A2,ATP13A2,ATP13A2 EXON Missense_T981M,Missense_T976M,Missense_T937M exm22897 1 17314633 [T/C] NM_022089,NM_001141973,NM_001141974 ATP13A2,ATP13A2,ATP13A2 EXON Synonymous_T953T,Synonymous_T948T,Synonymous_T909T exm22899 1 17314656 [A/T] NM_022089,NM_001141973,NM_001141974 ATP13A2,ATP13A2,ATP13A2 EXON Missense_I946F,Missense_I941F,Missense_I902F exm2231851 1 17314856 [A/G] NM_022089,NM_001141973,NM_001141974 ATP13A2,ATP13A2,ATP13A2 EXON Missense_S908L,Missense_S903L,Missense_S864L exm22926 1 17316686 [T/C] NM_022089,NM_001141973,NM_001141974 ATP13A2,ATP13A2,ATP13A2 EXON Missense_R783Q,Missense_R778Q,Missense_R778Q exm22932 1 17316771 [C/G] NM_022089,NM_001141973,NM_001141974 ATP13A2,ATP13A2,ATP13A2 EXON Missense_Q755E,Missense_Q750E,Missense_Q750E exm22935 1 17318244 [T/C] NM_022089,NM_001141973,NM_001141974 ATP13A2,ATP13A2,ATP13A2 EXON Missense_A746T,Missense_A741T,Missense_A741T exm1736074 1 17318282 [A/G] NM_022089,NM_001141973,NM_001141974 ATP13A2,ATP13A2,ATP13A2 EXON Missense_T733M,Missense_T728M,Missense_T728M exm22943 1 17318537 [A/G] NM_022089,NM_001141973,NM_001141974 ATP13A2,ATP13A2,ATP13A2 EXON Missense_V698A,Missense_V693A,Missense_V693A exm22947 1 17318610 [T/C] NM_022089,NM_001141973,NM_001141974 ATP13A2,ATP13A2,ATP13A2 EXON Missense_A674T,Missense_A669T,Missense_A669T exm22959 1 17320122 [A/C] NM_022089,NM_001141973,NM_001141974 ATP13A2,ATP13A2,ATP13A2 Silent,Silent,Silent exm2231855 1 17322553 [T/C] NM_022089,NM_001141973,NM_001141974 ATP13A2,ATP13A2,ATP13A2 EXON Missense_R487Q,Missense_R482Q,Missense_R482Q exm22983 1 17322750 [T/C] NM_022089,NM_001141973,NM_001141974 ATP13A2,ATP13A2,ATP13A2 EXON Missense_R451Q,Missense_R446Q,Missense_R446Q exm22987 1 17322793 [G/C] NM_022089,NM_001141973,NM_001141974 ATP13A2,ATP13A2,ATP13A2 EXON Missense_L437V,Missense_L432V,Missense_L432V exm23009 1 17323602 [A/G] NM_022089,NM_001141973,NM_001141974 ATP13A2,ATP13A2,ATP13A2 EXON Missense_R370W,Missense_R365W,Missense_R365W exm23022 1 17326767 [T/C] NM_022089,NM_001141973,NM_001141974 ATP13A2,ATP13A2,ATP13A2 EXON Missense_R294Q,Missense_R289Q,Missense_R289Q exm23023 1 17326768 [A/G] NM_022089,NM_001141973,NM_001141974 ATP13A2,ATP13A2,ATP13A2 EXON Missense_R294W,Missense_R289W,Missense_R289W exm23031 1 17326989 [A/G] NM_022089,NM_001141973,NM_001141974 ATP13A2,ATP13A2,ATP13A2 EXON Missense_A249V,Missense_A244V,Missense_A244V exm23046 1 17331192 [T/C] NM_022089,NM_001141973,NM_001141974 ATP13A2,ATP13A2,ATP13A2 EXON Missense_G158R,Silent,Silent exm2250261 1 17331229 [T/C] NM_022089,NM_001141973,NM_001141974 ATP13A2,ATP13A2,ATP13A2 EXON Synonymous_T145T,Synonymous_T145T,Synonymous_T145T exm-rs3738814 1 17331676 [A/G] NM_022089,NM_001141973,NM_001141974 ATP13A2,ATP13A2,ATP13A2 Silent,Silent,Silent exm23066 1 17332000 [T/C] NM_022089,NM_001141973,NM_001141974 ATP13A2,ATP13A2,ATP13A2 EXON Missense_V53M,Missense_V53M,Missense_V53M exm23067 1 17332012 [T/C] NM_022089,NM_001141973,NM_001141974 ATP13A2,ATP13A2,ATP13A2 EXON Missense_G49S,Missense_G49S,Missense_G49S exm23076 1 17332249 [A/G] NM_022089,NM_001141973,NM_001141974 ATP13A2,ATP13A2,ATP13A2 EXON Missense_T12M,Missense_T12M,Missense_T12M exm2231860 1 17349159 [A/G] NM_003000 SDHB EXON Missense_P237S exm23089 1 17354297 [A/G] NM_003000 SDHB EXON Missense_S163P exm23090 1 17354329 [A/G] NM_003000 SDHB EXON Missense_S152F exm23100 1 17371278 [T/C] NM_003000 SDHB EXON Missense_T60A exm23101 1 17371286 [T/C] NM_003000 SDHB EXON Missense_H57R exm23102 1 17371298 [T/C] NM_003000 SDHB EXON Missense_G53E exm23108 1 17380450 [G/C] NM_003000 SDHB EXON Missense_C22S exm2231866 1 17380471 [A/G] NM_003000 SDHB EXON Missense_A15V exm23111 1 17380483 [T/C] NM_003000 SDHB EXON Missense_R11H exm2273318 1 17395480 [A/G] NM_007365 PADI2 EXON Silent exm23124 1 17395640 [T/C] NM_007365 PADI2 EXON Missense_D633N exm23125 1 17395655 [T/C] NM_007365 PADI2 EXON Missense_E628K exm23129 1 17395682 [A/G] NM_007365 PADI2 EXON Missense_R619C exm23138 1 17395772 [A/C] NM_007365 PADI2 EXON Missense_V589L exm23140 1 17396608 [T/C] NM_007365 PADI2 EXON Missense_R580H exm23142 1 17396636 [T/C] NM_007365 PADI2 EXON Missense_A571T exm23164 1 17402215 [T/C] NM_007365 PADI2 EXON Missense_V472M exm23169 1 17402307 [T/C] NM_007365 PADI2 EXON Missense_R441Q exm23175 1 17405814 [T/C] NM_007365 PADI2 EXON Missense_V419M exm23188 1 17410253 [A/G] NM_007365 PADI2 EXON Nonsense_Q340X exm23205 1 17413075 [T/C] NM_007365 PADI2 EXON Missense_D259N exm23211 1 17413152 [T/C] NM_007365 PADI2 EXON Missense_R233Q exm23213 1 17413176 [T/C] NM_007365 PADI2 EXON Missense_R225H exm23214 1 17413177 [A/G] NM_007365 PADI2 EXON Missense_R225C exm23223 1 17418963 [T/C] NM_007365 PADI2 EXON Missense_E199K exm23233 1 17420121 [T/C] NM_007365 PADI2 EXON Missense_R157Q exm23234 1 17420146 [T/C] NM_007365 PADI2 EXON Missense_A149T exm1736795 1 17422451 [T/C] NM_007365 PADI2 EXON Missense_V122M exm23247 1 17429541 [T/C] NM_007365 PADI2 EXON Missense_Y97C exm23253 1 17431434 [A/G] NM_007365 PADI2 EXON Missense_S72L exm23269 1 17531750 [T/C] NM_013358 PADI1 EXON Missense_M13T exm23270 1 17531755 [A/G] NM_013358 PADI1 EXON Missense_T15A exm23273 1 17531782 [A/G] NM_013358 PADI1 EXON Missense_E24K exm23274 1 17531806 [T/G] NM_013358 PADI1 Silent exm23280 1 17548859 [A/G] NM_013358 PADI1 EXON Missense_R56H exm1737436 1 17548865 [A/G] NM_013358 PADI1 EXON Missense_R58H exm23281 1 17548873 [A/G] NM_013358 PADI1 EXON Missense_E61K exm23283 1 17548892 [A/G] NM_013358 PADI1 EXON Missense_R67H exm23284 1 17548898 [T/C] NM_013358 PADI1 EXON Missense_P69L exm23287 1 17548940 [T/C] NM_013358 PADI1 EXON Missense_A83V exm23288 1 17548945 [A/G] NM_013358 PADI1 EXON Missense_K85E exm23294 1 17550167 [A/G] NM_013358 PADI1 EXON Missense_V109M exm23295 1 17550185 [A/G] NM_013358 PADI1 EXON Missense_V115I exm23296 1 17550187 [T/C] NM_013358 PADI1 EXON Synonymous_V115V exm23299 1 17550889 [A/G] NM_013358 PADI1 EXON Missense_R125H exm23301 1 17550898 [A/T] NM_013358 PADI1 EXON Missense_K128M exm23307 1 17552548 [A/G] NM_013358 PADI1 EXON Missense_M183V exm23310 1 17552573 [A/G] NM_013358 PADI1 EXON Missense_D191G exm23318 1 17555185 [T/C] NM_013358 PADI1 EXON Nonsense_R240X exm23320 1 17555231 [T/C] NM_013358 PADI1 EXON Missense_T255I exm23331 1 17555490 [T/G] NM_013358 PADI1 EXON Missense_M291I exm23333 1 17555494 [T/C] NM_013358 PADI1 EXON Missense_P293S exm23336 1 17555507 [T/C] NM_013358 PADI1 EXON Missense_T297M exm23364 1 17559399 [T/C] NM_013358 PADI1 EXON Missense_P416L exm1737488 1 17559438 [A/G] NM_013358 PADI1 EXON Missense_R429Q exm23382 1 17565117 [T/C] NM_013358 PADI1 EXON Missense_R489W exm1737507 1 17566200 [T/G] NM_013358 PADI1 EXON Synonymous_G518G exm23395 1 17567149 [A/G] NM_013358 PADI1 EXON Missense_R551H exm23399 1 17567256 [T/G] NM_013358 PADI1 Silent exm23418 1 17575699 [A/G] NM_016233 PADI3 EXON Missense_V23M exm23424 1 17586122 [A/G] NM_016233 PADI3 EXON Missense_V48M exm23425 1 17586134 [A/G] NM_016233 PADI3 EXON Missense_I52V exm23427 1 17586159 [A/G] NM_016233 PADI3 EXON Missense_R60Q exm1737539 1 17586164 [T/C] NM_016233 PADI3 EXON Missense_R62C exm1737541 1 17586179 [T/C] NM_016233 PADI3 EXON Missense_R67W exm23436 1 17588646 [T/C] NM_016233 PADI3 EXON Missense_S98P exm23438 1 17588689 [T/A] NM_016233 PADI3 EXON Missense_L112H exm23442 1 17592187 [A/G] NM_016233 PADI3 EXON Missense_G127E exm23443 1 17593214 [A/C] NM_016233 PADI3 EXON Synonymous_R137R exm23444 1 17593215 [A/G] NM_016233 PADI3 EXON Missense_R137Q exm23446 1 17593232 [T/C] NM_016233 PADI3 EXON Missense_P143S exm23449 1 17593310 [T/C] NM_016233 PADI3 EXON Nonsense_Q169X exm23450 1 17593316 [A/G] NM_016233 PADI3 EXON Missense_V171M exm23453 1 17594365 [T/C] NM_016233 PADI3 EXON Missense_T187M exm23455 1 17594433 [T/C] NM_016233 PADI3 EXON Missense_R210W exm23458 1 17594456 [T/C] NM_016233 PADI3 EXON Synonymous_C217C exm1737592 1 17596797 [A/G] NM_016233 PADI3 EXON Missense_R241H exm23462 1 17596809 [A/G] NM_016233 PADI3 EXON Missense_D245G exm23463 1 17596817 [T/C] NM_016233 PADI3 EXON Missense_R248C exm23464 1 17596818 [A/G] NM_016233 PADI3 EXON Missense_R248H exm2250291 1 17597646 [T/C] NM_016233 PADI3 EXON Synonymous_A340A exm2250292 1 17597658 [T/C] NM_016233 PADI3 EXON Synonymous_N344N exm1737603 1 17599881 [T/C] NM_016233 PADI3 EXON Missense_P365L exm23503 1 17601154 [T/C] NM_016233 PADI3 EXON Missense_R394W exm23506 1 17601163 [T/C] NM_016233 PADI3 EXON Missense_R397C exm23511 1 17601263 [T/C] NM_016233 PADI3 EXON Missense_I430T exm23512 1 17601266 [A/G] NM_016233 PADI3 EXON Missense_G431E exm23518 1 17603075 [T/C] NM_016233 PADI3 EXON Missense_P457S exm23537 1 17607199 [T/C] NM_016233 PADI3 EXON Missense_R557W exm23541 1 17607272 [T/C] NM_016233 PADI3 EXON Missense_T581M exm23542 1 17607274 [A/G] NM_016233 PADI3 EXON Missense_A582T exm23544 1 17607292 [A/G] NM_016233 PADI3 Silent exm23547 1 17609392 [A/C] NM_016233 PADI3 EXON Missense_P605T exm23548 1 17609422 [A/G] NM_016233 PADI3 EXON Missense_E615K exm23550 1 17609431 [T/C] NM_016233 PADI3 EXON Missense_R618W exm23556 1 17609491 [T/C] NM_016233 PADI3 EXON Missense_H638Y exm23558 1 17609549 [T/C] NM_016233 PADI3 EXON Missense_F657S exm23560 1 17609560 [A/C] NM_016233 PADI3 EXON Missense_N661H exm23564 1 17634718 [A/G] NM_012387 PADI4 EXON Missense_M1V exm23565 1 17634740 [A/G] NM_012387 PADI4 EXON Missense_R8H exm23574 1 17657534 [A/G] NM_012387 PADI4 EXON Missense_G55S exm23576 1 17657592 [T/C] NM_012387 PADI4 EXON Missense_V74A exm23578 1 17657616 [T/C] NM_012387 PADI4 EXON Missense_V82A exm23581 1 17657636 [A/G] NM_012387 PADI4 EXON Missense_D89N exm23584 1 17660463 [A/G] NM_012387 PADI4 EXON Missense_K100R exm23585 1 17660468 [A/C] NM_012387 PADI4 EXON Missense_P102T exm23586 1 17660474 [A/G] NM_012387 PADI4 EXON Missense_V104I exm23587 1 17660490 [A/G] NM_012387 PADI4 EXON Missense_Y109C exm23589 1 17660499 [G/C] NM_012387 PADI4 EXON Missense_G112A exm23601 1 17662705 [C/G] NM_012387 PADI4 EXON Missense_R131T exm23611 1 17664615 [T/C] NM_012387 PADI4 EXON Missense_M164T exm23612 1 17664616 [A/G] NM_012387 PADI4 EXON Missense_M164I exm2250297 1 17664622 [T/C] NM_012387 PADI4 EXON Synonymous_C166C exm23613 1 17664622 [T/C] NM_012387 PADI4 EXON Synonymous_C166C exm23616 1 17666198 [T/C] NM_012387 PADI4 EXON Missense_S181L exm23618 1 17666222 [A/C] NM_012387 PADI4 EXON Missense_T189N exm23620 1 17666263 [A/G] NM_012387 PADI4 EXON Missense_V203M exm23621 1 17666309 [A/G] NM_012387 PADI4 Silent exm23629 1 17668509 [A/G] NM_012387 PADI4 EXON Missense_G242S exm23635 1 17668563 [A/G] NM_012387 PADI4 EXON Missense_D260N exm23638 1 17668609 [T/C] NM_012387 PADI4 EXON Missense_S275F exm23644 1 17668827 [A/G] NM_012387 PADI4 EXON Missense_V289M exm23646 1 17668840 [T/C] NM_012387 PADI4 EXON Missense_V293A exm23651 1 17672566 [C/G] NM_012387 PADI4 EXON Missense_A327P exm-rs2240335 1 17674537 [A/C] NM_012387 PADI4 EXON Synonymous_R383R exm23666 1 17681053 [A/G] NM_012387 PADI4 EXON Missense_R394Q exm23680 1 17682519 [T/G] NM_012387 PADI4 EXON Missense_L451R exm23682 1 17682572 [A/G] NM_012387 PADI4 EXON Missense_V469M exm23686 1 17682906 [T/C] NM_012387 PADI4 EXON Nonsense_Q504X exm23694 1 17685905 [T/C] NM_012387 PADI4 Silent exm23700 1 17690083 [T/C] NM_012387 PADI4 EXON Missense_R609C exm23705 1 17690206 [A/C] NM_012387 PADI4 EXON Missense_R650S exm23709 1 17698750 [A/G] NM_207421 PADI6 EXON Missense_V4M exm23715 1 17698855 [A/G] NM_207421 PADI6 EXON Missense_G39R exm23721 1 17699676 [T/C] NM_207421 PADI6 EXON Missense_T81M exm23724 1 17699720 [A/G] NM_207421 PADI6 EXON Missense_A96T exm23726 1 17701961 [A/G] NM_207421 PADI6 EXON Missense_V112M exm23728 1 17706442 [A/G] NM_207421 PADI6 EXON Missense_R132H exm23733 1 17708460 [T/A] NM_207421 PADI6 Silent exm23745 1 17714971 [A/G] NM_207421 PADI6 EXON Missense_V259I exm23747 1 17715015 [C/G] NM_207421 PADI6 EXON Missense_I273M exm23765 1 17720515 [A/G] NM_207421 PADI6 EXON Synonymous_T373T exm23766 1 17720542 [T/C] NM_207421 PADI6 EXON Synonymous_A382A exm23767 1 17720545 [T/C] NM_207421 PADI6 EXON Synonymous_A383A exm23775 1 17721447 [T/C] NM_207421 PADI6 EXON Synonymous_S446S exm23785 1 17722110 [T/C] NM_207421 PADI6 EXON Synonymous_G523G exm23787 1 17722113 [T/C] NM_207421 PADI6 EXON Synonymous_D524D exm-rs7538876 1 17722363 [A/G] NM_207421 PADI6 Silent exm23790 1 17723586 [T/C] NM_207421 PADI6 EXON Synonymous_I546I exm23791 1 17723587 [A/G] NM_207421 PADI6 EXON Missense_D547N exm23804 1 17727811 [C/G] NM_207421 PADI6 EXON Synonymous_L654L exm23807 1 17727838 [T/C] NM_207421 PADI6 EXON Synonymous_D663D exm23845 1 17748785 [T/C] NM_001136204,NM_018715 RCC2,RCC2 EXON Missense_T220A,Missense_T220A exm23860 1 17764763 [A/G] NM_001136204,NM_018715 RCC2,RCC2 EXON Missense_V83A,Missense_V83A exm2268868 1 17874843 [T/C] NM_018125 ARHGEF10L Silent exm23884 1 17913964 [T/C] NM_018125,NM_001011722 ARHGEF10L,ARHGEF10L EXON Missense_L16P,Missense_L16P exm23891 1 17914057 [A/G] NM_018125,NM_001011722 ARHGEF10L,ARHGEF10L EXON Missense_S47N,Missense_S47N exm23899 1 17914110 [G/C] NM_018125,NM_001011722 ARHGEF10L,ARHGEF10L EXON Missense_L65V,Missense_L65V exm23900 1 17914122 [A/G] NM_018125,NM_001011722 ARHGEF10L,ARHGEF10L EXON Missense_D69N,Missense_D69N exm23903 1 17928659 [A/G] NM_018125,NM_001011722 ARHGEF10L,ARHGEF10L EXON Missense_A99T,Missense_A99T exm23905 1 17928672 [C/G] NM_018125,NM_001011722 ARHGEF10L,ARHGEF10L EXON Missense_G103A,Missense_G103A exm23907 1 17928680 [A/C] NM_018125,NM_001011722 ARHGEF10L,ARHGEF10L EXON Missense_H106N,Missense_H106N exm23931 1 17934437 [A/G] NM_018125,NM_001011722 ARHGEF10L,ARHGEF10L EXON Missense_E192K,Missense_E192K exm2275427 1 17939626 [C/G] NM_018125,NM_001011722 ARHGEF10L,ARHGEF10L EXON Missense_G228A,Silent exm23940 1 17942591 [A/G] NM_018125,NM_001011722 ARHGEF10L,ARHGEF10L EXON Missense_M243I,Missense_M204I exm23951 1 17948389 [A/G] NM_018125,NM_001011722 ARHGEF10L,ARHGEF10L EXON Missense_V325M,Missense_V286M exm23958 1 17949509 [T/A] NM_018125,NM_001011722 ARHGEF10L,ARHGEF10L EXON Missense_M347L,Missense_M308L exm23959 1 17949537 [T/C] NM_018125,NM_001011722 ARHGEF10L,ARHGEF10L EXON Missense_A356V,Missense_A317V exm2250329 1 17949619 [T/C] NM_018125,NM_001011722 ARHGEF10L,ARHGEF10L EXON Synonymous_R383R,Synonymous_R344R exm23987 1 17953972 [A/G] NM_018125,NM_001011722 ARHGEF10L,ARHGEF10L EXON Missense_V520I,Missense_V481I exm23998 1 17961392 [T/C] NM_018125,NM_001011722 ARHGEF10L,ARHGEF10L EXON Missense_T603M,Missense_T564M exm24001 1 17961432 [C/G] NM_018125,NM_001011722 ARHGEF10L,ARHGEF10L EXON Missense_D616E,Missense_D577E exm24026 1 17975148 [T/C] NM_018125,NM_001011722 ARHGEF10L,ARHGEF10L EXON Missense_S791F,Missense_S752F exm24035 1 17982446 [A/G] NM_018125,NM_001011722 ARHGEF10L,ARHGEF10L EXON Missense_V852I,Missense_V813I exm24063 1 17991052 [T/C] NM_018125,NM_001011722 ARHGEF10L,ARHGEF10L EXON Missense_W991R,Missense_W952R exm2250331 1 18014076 [T/C] NM_018125,NM_001011722 ARHGEF10L,ARHGEF10L EXON Synonymous_F1006F,Synonymous_F967F exm24075 1 18014153 [T/C] NM_018125,NM_001011722 ARHGEF10L,ARHGEF10L EXON Missense_S1032F,Missense_S993F exm24079 1 18014241 [A/C] NM_018125,NM_001011722 ARHGEF10L,ARHGEF10L EXON Synonymous_P1061P,Synonymous_P1022P exm24081 1 18021668 [T/G] NM_018125,NM_001011722 ARHGEF10L,ARHGEF10L EXON Missense_C1067F,Missense_C1028F exm24085 1 18021758 [T/G] NM_018125,NM_001011722 ARHGEF10L,ARHGEF10L EXON Missense_G1097V,Missense_G1058V exm24094 1 18023403 [T/C] NM_018125,NM_001011722 ARHGEF10L,ARHGEF10L EXON Missense_T1123I,Missense_T1084I exm24104 1 18023556 [A/G] NM_018125,NM_001011722 ARHGEF10L,ARHGEF10L EXON Missense_Q1174R,Missense_Q1135R exm24105 1 18023562 [A/G] NM_018125,NM_001011722 ARHGEF10L,ARHGEF10L EXON Missense_R1176H,Missense_R1137H exm24108 1 18023586 [A/C] NM_018125,NM_001011722 ARHGEF10L,ARHGEF10L EXON Missense_P1184Q,Missense_P1145Q exm1739813 1 18023630 [A/G] NM_018125,NM_001011722 ARHGEF10L,ARHGEF10L EXON Missense_A1199T,Missense_A1160T exm24116 1 18023654 [A/G] NM_018125,NM_001011722 ARHGEF10L,ARHGEF10L EXON Missense_D1207N,Missense_D1168N exm24124 1 18023690 [A/G] NM_018125,NM_001011722 ARHGEF10L,ARHGEF10L EXON Missense_I1219V,Missense_I1180V exm24126 1 18023699 [T/C] NM_018125,NM_001011722 ARHGEF10L,ARHGEF10L EXON Missense_R1222C,Missense_R1183C exm24128 1 18023717 [T/C] NM_018125,NM_001011722 ARHGEF10L,ARHGEF10L EXON Missense_R1228C,Missense_R1189C exm2268655 1 18043943 [T/C] exm-rs1847235 1 18123957 [A/G] NM_030812 ACTL8 Silent exm24137 1 18149510 [T/G] NM_030812 ACTL8 EXON Missense_A3S exm24147 1 18149613 [A/C] NM_030812 ACTL8 EXON Missense_P37Q exm24149 1 18149645 [T/C] NM_030812 ACTL8 EXON Missense_R48C exm24152 1 18149666 [A/G] NM_030812 ACTL8 EXON Missense_I55V exm24155 1 18149720 [G/C] NM_030812 ACTL8 EXON Missense_L73V exm24157 1 18149792 [T/C] NM_030812 ACTL8 EXON Missense_P97S exm24166 1 18152424 [A/G] NM_030812 ACTL8 EXON Missense_K171E exm24174 1 18152530 [T/G] NM_030812 ACTL8 EXON Missense_V206G exm24180 1 18152646 [T/C] NM_030812 ACTL8 EXON Missense_R245C exm24184 1 18152665 [T/C] NM_030812 ACTL8 EXON Missense_M251T exm24195 1 18152871 [A/G] NM_030812 ACTL8 EXON Missense_V320I exm1740072 1 18152977 [T/C] NM_030812 ACTL8 EXON Missense_M355T exm2268656 1 18201318 [T/C] exm-rs16861326 1 18294487 [A/G] exm24205 1 18554415 [T/C] NM_032880 IGSF21 EXON Missense_P32S exm2273621 1 18554424 [A/C] NM_032880 IGSF21 EXON Missense_P35T exm2264991 1 18563889 [A/G] NM_032880 IGSF21 Silent exm24216 1 18618361 [T/G] NM_032880 IGSF21 EXON Missense_V62G exm24224 1 18661400 [A/G] NM_032880 IGSF21 EXON Missense_R107Q exm2250385 1 18688658 [T/C] NM_032880 IGSF21 EXON Synonymous_F158F exm24233 1 18688663 [A/G] NM_032880 IGSF21 EXON Missense_R160H exm24239 1 18691718 [T/G] NM_032880 IGSF21 EXON Missense_V181G exm24242 1 18691747 [A/G] NM_032880 IGSF21 EXON Missense_D191N exm24243 1 18691750 [T/G] NM_032880 IGSF21 EXON Missense_A192S exm24248 1 18691864 [T/C] NM_032880 IGSF21 EXON Missense_S230P exm24251 1 18691904 [T/C] NM_032880 IGSF21 EXON Missense_T243M exm24253 1 18691919 [A/G] NM_032880 IGSF21 EXON Missense_R248H exm24261 1 18692014 [A/G] NM_032880 IGSF21 EXON Missense_S280G exm1742323 1 18692020 [A/G] NM_032880 IGSF21 EXON Missense_E282K exm24264 1 18692048 [A/G] NM_032880 IGSF21 EXON Missense_R291H exm24276 1 18702848 [T/C] NM_032880 IGSF21 EXON Missense_R354W exm24279 1 18703298 [A/G] NM_032880 IGSF21 EXON Missense_E369G exm24281 1 18703328 [T/C] NM_032880 IGSF21 EXON Missense_T379M exm2232086 1 18703911 [T/C] NM_032880 IGSF21 EXON Missense_T440M exm24310 1 18704791 [A/G] NM_032880 IGSF21 EXON Missense_A459T exm-rs3007729 1 18795255 [T/C] exm24320 1 18807521 [A/C] NM_152375 KLHDC7A EXON Missense_Q16K exm24321 1 18807536 [T/G] NM_152375 KLHDC7A EXON Missense_V21L exm24322 1 18807551 [A/G] NM_152375 KLHDC7A EXON Missense_A26T exm24328 1 18807755 [A/G] NM_152375 KLHDC7A EXON Missense_G94S exm24334 1 18807813 [G/C] NM_152375 KLHDC7A EXON Missense_T113R exm24337 1 18807851 [T/C] NM_152375 KLHDC7A EXON Missense_R126W exm24342 1 18807938 [A/C] NM_152375 KLHDC7A EXON Missense_P155T exm24343 1 18807953 [A/C] NM_152375 KLHDC7A EXON Missense_R160S exm24345 1 18807968 [T/C] NM_152375 KLHDC7A EXON Missense_P165S exm24346 1 18807972 [A/G] NM_152375 KLHDC7A EXON Missense_K166R exm24350 1 18808056 [G/C] NM_152375 KLHDC7A EXON Missense_R194P exm24356 1 18808154 [T/C] NM_152375 KLHDC7A EXON Missense_R227C exm24362 1 18808229 [T/C] NM_152375 KLHDC7A EXON Nonsense_Q252X exm24366 1 18808280 [T/C] NM_152375 KLHDC7A EXON Nonsense_R269X exm24378 1 18808526 [A/C] NM_152375 KLHDC7A EXON Missense_T351P exm24390 1 18808737 [A/C] NM_152375 KLHDC7A EXON Missense_T421N exm24392 1 18808833 [A/C] NM_152375 KLHDC7A EXON Missense_A453E exm2232087 1 18808975 [A/C] NM_152375 KLHDC7A EXON Nonsense_C500X exm24404 1 18809019 [A/G] NM_152375 KLHDC7A EXON Missense_Q515R exm24406 1 18809047 [A/G] NM_152375 KLHDC7A EXON Missense_M524I exm24425 1 18809483 [A/G] NM_152375 KLHDC7A EXON Missense_A670T exm24427 1 18809516 [T/C] NM_152375 KLHDC7A EXON Missense_R681C exm24432 1 18809574 [A/G] NM_152375 KLHDC7A EXON Missense_R700Q exm24436 1 18809613 [T/C] NM_152375 KLHDC7A EXON Missense_P713L exm24441 1 18809717 [A/G] NM_152375 KLHDC7A EXON Missense_K748E exm2250401 1 18961017 [T/C] NM_002584,NM_013945,NM_001135254 PAX7,PAX7,PAX7 EXON Synonymous_G102G,Synonymous_G102G,Synonymous_G102G exm24465 1 18961612 [T/C] NM_002584,NM_013945,NM_001135254 PAX7,PAX7,PAX7 EXON Missense_A110V,Missense_A110V,Missense_A110V exm24487 1 19018263 [A/G] NM_002584,NM_013945,NM_001135254 PAX7,PAX7,PAX7 EXON Missense_E201G,Missense_E199G,Missense_E201G exm24490 1 19018305 [A/G] NM_002584,NM_013945,NM_001135254 PAX7,PAX7,PAX7 EXON Missense_R215H,Missense_R213H,Missense_R215H exm24492 1 19018364 [A/G] NM_002584,NM_013945,NM_001135254 PAX7,PAX7,PAX7 EXON Missense_A235T,Missense_A233T,Missense_A235T exm24516 1 19062163 [T/C] NM_002584,NM_013945,NM_001135254 PAX7,PAX7,PAX7 EXON Missense_P398L,Missense_P396L,Missense_P398L exm1742986 1 19062204 [A/G] NM_002584,NM_013945,NM_001135254 PAX7,PAX7,PAX7 EXON Missense_G412S,Missense_G410S,Missense_G412S exm24524 1 19062345 [A/G] NM_002584,NM_013945,NM_001135254 PAX7,PAX7,PAX7 EXON Missense_G459S,Missense_G457S,Missense_G459S exm24525 1 19062349 [A/G] NM_002584,NM_013945,NM_001135254 PAX7,PAX7,PAX7 EXON Missense_Y460C,Missense_Y458C,Missense_Y460C exm24539 1 19062493 [T/C] NM_002584,NM_013945,NM_001135254 PAX7,PAX7,PAX7 EXON Missense_M508T,Missense_M506T,Silent exm24540 1 19062494 [A/G] NM_002584,NM_013945,NM_001135254 PAX7,PAX7,PAX7 EXON Missense_M508I,Missense_M506I,Silent exm2275428 1 19071356 [A/G] NM_001135254 PAX7 EXON Missense_R484H exm-rs12063142 1 19139517 [T/C] exm24547 1 19166100 [T/C] NM_152232 TAS1R2 EXON Missense_R838K exm24549 1 19166140 [T/C] NM_152232 TAS1R2 EXON Missense_A825T exm24550 1 19166157 [A/G] NM_152232 TAS1R2 EXON Missense_P819L exm24566 1 19166479 [T/C] NM_152232 TAS1R2 EXON Missense_D712N exm24567 1 19166482 [T/C] NM_152232 TAS1R2 EXON Missense_D711N exm24573 1 19166592 [T/C] NM_152232 TAS1R2 EXON Missense_R674H exm24581 1 19166641 [T/C] NM_152232 TAS1R2 EXON Missense_A658T exm24582 1 19166647 [T/C] NM_152232 TAS1R2 EXON Missense_V656I exm24583 1 19166665 [T/C] NM_152232 TAS1R2 EXON Missense_V650M exm24585 1 19166668 [T/C] NM_152232 TAS1R2 EXON Missense_A649T exm24593 1 19166823 [T/C] NM_152232 TAS1R2 EXON Missense_R597H exm24594 1 19166829 [A/G] NM_152232 TAS1R2 EXON Missense_I595T exm24597 1 19166893 [T/C] NM_152232 TAS1R2 EXON Missense_A574T exm24604 1 19167003 [C/G] NM_152232 TAS1R2 EXON Missense_A537G exm24613 1 19175846 [T/C] NM_152232 TAS1R2 EXON Missense_I486V exm24615 1 19175875 [T/G] NM_152232 TAS1R2 EXON Missense_K476T exm24619 1 19175895 [T/G] NM_152232 TAS1R2 EXON Nonsense_Y469X exm24620 1 19175900 [A/G] NM_152232 TAS1R2 EXON Missense_Y468H exm24623 1 19175911 [T/C] NM_152232 TAS1R2 EXON Missense_S464N exm24624 1 19175932 [T/C] NM_152232 TAS1R2 EXON Missense_R457Q exm24625 1 19175933 [A/G] NM_152232 TAS1R2 EXON Missense_R457W exm24631 1 19176005 [T/C] NM_152232 TAS1R2 EXON Missense_D433N exm24638 1 19180753 [T/C] NM_152232 TAS1R2 EXON Missense_G404D exm24660 1 19181015 [G/C] NM_152232 TAS1R2 EXON Missense_R317G exm24666 1 19181075 [T/C] NM_152232 TAS1R2 EXON Missense_V297M exm24677 1 19181174 [T/G] NM_152232 TAS1R2 EXON Missense_L264M exm24681 1 19181217 [T/C] NM_152232 TAS1R2 EXON Missense_M249I exm24685 1 19181264 [T/C] NM_152232 TAS1R2 EXON Missense_I234V exm2232096 1 19181312 [T/C] NM_152232 TAS1R2 EXON Missense_D218N exm24696 1 19181330 [T/C] NM_152232 TAS1R2 EXON Missense_S212G exm24697 1 19181336 [C/G] NM_152232 TAS1R2 EXON Missense_V210L exm24700 1 19181365 [T/C] NM_152232 TAS1R2 EXON Missense_H200R exm24702 1 19181393 [T/C] NM_152232 TAS1R2 EXON Missense_I191V exm24712 1 19183875 [T/C] NM_152232 TAS1R2 EXON Missense_E145K exm24715 1 19184075 [A/G] NM_152232 TAS1R2 EXON Missense_A78V exm24718 1 19184082 [A/G] NM_152232 TAS1R2 EXON Missense_R76C exm24724 1 19186030 [T/C] NM_152232 TAS1R2 EXON Missense_H42R exm24728 1 19186093 [A/G] NM_152232 TAS1R2 EXON Missense_P21L exm24729 1 19186115 [C/G] NM_152232 TAS1R2 EXON Missense_L14V exm24730 1 19186129 [G/C] NM_152232 TAS1R2 EXON Missense_S9C exm24746 1 19199448 [T/G] NM_170726,NM_001161504,NM_003748 ALDH4A1,ALDH4A1,ALDH4A1 EXON Missense_T528N,Missense_T468N,Missense_T528N exm24753 1 19200974 [G/C] NM_170726,NM_001161504,NM_003748 ALDH4A1,ALDH4A1,ALDH4A1 EXON Missense_G521A,Missense_G461A,Missense_G521A exm24759 1 19201068 [T/C] NM_170726,NM_001161504,NM_003748 ALDH4A1,ALDH4A1,ALDH4A1 EXON Missense_V490M,Missense_V430M,Missense_V490M exm24761 1 19201071 [T/C] NM_170726,NM_001161504,NM_003748 ALDH4A1,ALDH4A1,ALDH4A1 EXON Missense_V489I,Missense_V429I,Missense_V489I exm24765 1 19201919 [T/C] NM_170726,NM_001161504,NM_003748 ALDH4A1,ALDH4A1,ALDH4A1 EXON Missense_T473A,Missense_T413A,Missense_T473A exm24766 1 19201928 [T/C] NM_170726,NM_001161504,NM_003748 ALDH4A1,ALDH4A1,ALDH4A1 EXON Missense_V470I,Missense_V410I,Missense_V470I exm24769 1 19201951 [T/G] NM_170726,NM_001161504,NM_003748 ALDH4A1,ALDH4A1,ALDH4A1 EXON Missense_K462T,Missense_K402T,Missense_K462T exm24778 1 19202886 [A/G] NM_170726,NM_001161504,NM_003748 ALDH4A1,ALDH4A1,ALDH4A1 EXON Missense_C421R,Missense_C361R,Missense_C421R exm2264807 1 19202896 [A/G] NM_170726,NM_001161504,NM_003748 ALDH4A1,ALDH4A1,ALDH4A1 EXON Synonymous_A417A,Synonymous_A357A,Synonymous_A417A exm24789 1 19202933 [T/C] NM_170726,NM_001161504,NM_003748 ALDH4A1,ALDH4A1,ALDH4A1 EXON Missense_E405G,Missense_E345G,Missense_E405G exm24795 1 19203725 [A/G] NM_170726,NM_001161504,NM_003748 ALDH4A1,ALDH4A1,ALDH4A1 EXON Missense_F388L,Missense_F328L,Missense_F388L exm24797 1 19203910 [A/G] NM_170726,NM_001161504,NM_003748 ALDH4A1,ALDH4A1,ALDH4A1 EXON Synonymous_D379D,Synonymous_D319D,Synonymous_D379D exm24800 1 19203951 [T/C] NM_170726,NM_001161504,NM_003748 ALDH4A1,ALDH4A1,ALDH4A1 EXON Missense_G366R,Missense_G306R,Missense_G366R exm24804 1 19203974 [T/C] NM_170726,NM_001161504,NM_003748 ALDH4A1,ALDH4A1,ALDH4A1 EXON Missense_H358R,Missense_H298R,Missense_H358R exm24808 1 19203999 [A/C] NM_170726,NM_001161504,NM_003748 ALDH4A1,ALDH4A1,ALDH4A1 EXON Missense_A350S,Missense_A290S,Missense_A350S exm24820 1 19205865 [G/C] NM_170726,NM_001161504,NM_003748 ALDH4A1,ALDH4A1,ALDH4A1 EXON Missense_T290S,Missense_T230S,Missense_T290S exm24821 1 19208194 [A/G] NM_170726,NM_001161504,NM_003748 ALDH4A1,ALDH4A1,ALDH4A1 EXON Missense_P289L,Missense_P229L,Missense_P289L exm24826 1 19208293 [C/G] NM_170726,NM_001161504,NM_003748 ALDH4A1,ALDH4A1,ALDH4A1 EXON Missense_P256R,Missense_P196R,Missense_P256R exm24847 1 19209792 [A/G] NM_170726,NM_001161504,NM_003748 ALDH4A1,ALDH4A1,ALDH4A1 EXON Missense_T195M,Missense_T135M,Missense_T195M exm24856 1 19211987 [T/C] NM_170726,NM_001161504,NM_003748 ALDH4A1,ALDH4A1,ALDH4A1 EXON Missense_A145T,Missense_A85T,Missense_A145T exm24865 1 19212051 [G/C] NM_170726,NM_001161504,NM_003748 ALDH4A1,ALDH4A1,ALDH4A1 EXON Missense_D123E,Missense_D63E,Missense_D123E exm24875 1 19215861 [T/C] NM_170726,NM_001161504,NM_003748 ALDH4A1,ALDH4A1,ALDH4A1 EXON Missense_V82M,Missense_V22M,Missense_V82M exm24879 1 19215906 [T/C] NM_170726,NM_001161504,NM_003748 ALDH4A1,ALDH4A1,ALDH4A1 EXON Missense_V67M,Missense_V7M,Missense_V67M exm2232099 1 19215926 [T/C] NM_170726,NM_001161504,NM_003748 ALDH4A1,ALDH4A1,ALDH4A1 EXON Missense_R60Q,Silent,Missense_R60Q exm24881 1 19215927 [A/G] NM_170726,NM_001161504,NM_003748 ALDH4A1,ALDH4A1,ALDH4A1 EXON Missense_R60W,Silent,Missense_R60W exm24900 1 19235138 [T/C] NM_001136265 IFFO2 EXON Missense_V491M exm24907 1 19236932 [T/C] NM_001136265 IFFO2 EXON Missense_R451Q exm24915 1 19243446 [T/C] NM_001136265 IFFO2 EXON Missense_V352I exm24927 1 19401331 [T/G] NM_020765 UBR4 EXON Missense_P5183T exm24930 1 19401367 [G/C] NM_020765 UBR4 EXON Missense_P5171A exm24932 1 19401382 [T/A] NM_020765 UBR4 EXON Missense_S5166T exm24935 1 19403234 [T/C] NM_020765 UBR4 EXON Missense_G5163S exm2232105 1 19404544 [T/C] NM_020765 UBR4 EXON Missense_V5084M exm24960 1 19407898 [A/G] NM_020765 UBR4 EXON Missense_R5060W exm24963 1 19407912 [T/C] NM_020765 UBR4 EXON Missense_R5055H exm24965 1 19408014 [A/G] NM_020765 UBR4 EXON Missense_P5021L exm2275429 1 19411111 [A/G] NM_020765 UBR4 EXON Synonymous_F4965F exm24985 1 19413207 [T/C] NM_020765 UBR4 EXON Missense_I4885V exm24987 1 19413261 [A/T] NM_020765 UBR4 EXON Missense_M4867L exm24994 1 19415254 [A/G] NM_020765 UBR4 EXON Missense_T4810M exm24998 1 19415369 [A/G] NM_020765 UBR4 EXON Missense_R4772W exm25001 1 19415446 [A/G] NM_020765 UBR4 EXON Missense_P4746L exm25002 1 19415470 [A/C] NM_020765 UBR4 EXON Missense_V4738G exm2250429 1 19422060 [A/G] NM_020765 UBR4 EXON Synonymous_V4535V exm25030 1 19423098 [T/C] NM_020765 UBR4 EXON Missense_M4479I exm25037 1 19427021 [T/G] NM_020765 UBR4 EXON Missense_P4357H exm25048 1 19431115 [T/C] NM_020765 UBR4 EXON Missense_D4231N exm25051 1 19431567 [A/G] NM_020765 UBR4 EXON Missense_P4207L exm1743856 1 19432290 [A/G] NM_020765 UBR4 EXON Missense_T4147I exm25064 1 19432330 [A/C] NM_020765 UBR4 EXON Missense_F4134V exm25076 1 19436950 [A/G] NM_020765 UBR4 EXON Synonymous_S3967S exm2250432 1 19436950 [A/G] NM_020765 UBR4 EXON Synonymous_S3967S exm25082 1 19437319 [A/G] NM_020765 UBR4 EXON Missense_P3937S exm25086 1 19439136 [T/C] NM_020765 UBR4 EXON Missense_A3895T exm25113 1 19440481 [T/G] NM_020765 UBR4 EXON Missense_N3762K exm25135 1 19443890 [T/C] NM_020765 UBR4 EXON Missense_I3550V exm25146 1 19446119 [A/G] NM_020765 UBR4 EXON Missense_R3463C exm25163 1 19446804 [T/C] NM_020765 UBR4 EXON Missense_A3394T exm25165 1 19447752 [T/G] NM_020765 UBR4 EXON Missense_Q3358K exm25177 1 19448473 [T/C] NM_020765 UBR4 EXON Missense_A3284T exm25183 1 19449430 [T/C] NM_020765 UBR4 EXON Missense_R3238H exm25209 1 19455492 [A/G] NM_020765 UBR4 EXON Missense_R2995W exm25211 1 19455509 [T/C] NM_020765 UBR4 EXON Missense_R2989Q exm25214 1 19464666 [T/C] NM_020765 UBR4 EXON Missense_R2914Q exm25224 1 19467368 [A/G] NM_020765 UBR4 EXON Missense_L2836P exm25228 1 19467924 [T/G] NM_020765 UBR4 EXON Missense_P2802H exm25232 1 19468217 [C/G] NM_020765 UBR4 EXON Missense_G2745A exm25238 1 19471374 [T/C] NM_020765 UBR4 EXON Missense_N2658S exm25240 1 19471390 [T/C] NM_020765 UBR4 EXON Missense_I2653V exm25268 1 19477246 [A/C] NM_020765 UBR4 EXON Missense_A2419S exm25279 1 19478303 [G/C] NM_020765 UBR4 EXON Missense_M2349I exm25284 1 19478814 [T/C] NM_020765 UBR4 EXON Missense_N2330S exm25295 1 19480281 [G/C] NM_020765 UBR4 EXON Missense_T2204S exm25323 1 19482788 [T/C] NM_020765 UBR4 EXON Missense_I2017V exm25376 1 19489077 [A/T] NM_020765 UBR4 EXON Missense_H1598L exm1744133 1 19491416 [T/C] NM_020765 UBR4 EXON Missense_R1463H exm25401 1 19492160 [A/G] NM_020765 UBR4 EXON Missense_F1401L exm25404 1 19493520 [T/G] NM_020765 UBR4 EXON Missense_N1369H exm25405 1 19493528 [A/G] NM_020765 UBR4 EXON Missense_A1366V exm25410 1 19493633 [T/C] NM_020765 UBR4 EXON Missense_S1331N exm25423 1 19494605 [A/G] NM_020765 UBR4 EXON Missense_T1272I exm25429 1 19496018 [T/G] NM_020765 UBR4 EXON Missense_L1218M exm25430 1 19496023 [A/G] NM_020765 UBR4 EXON Missense_P1216L exm25435 1 19497330 [A/G] NM_020765 UBR4 EXON Missense_P1190L exm1744174 1 19499427 [A/G] NM_020765 UBR4 EXON Missense_S1151L exm25450 1 19499560 [T/C] NM_020765 UBR4 EXON Missense_T1107A exm-rs1009806 1 19500551 [T/C] NM_020765 UBR4 Silent exm25465 1 19500830 [T/G] NM_020765 UBR4 EXON Missense_K989Q exm25480 1 19503178 [A/C] NM_020765 UBR4 EXON Missense_G894V exm25481 1 19503181 [T/C] NM_020765 UBR4 EXON Missense_S893N exm1744194 1 19503185 [T/C] NM_020765 UBR4 EXON Missense_A892T exm25489 1 19504046 [T/C] NM_020765 UBR4 EXON Missense_R849H exm25490 1 19504062 [T/C] NM_020765 UBR4 EXON Missense_M844V exm25495 1 19504194 [A/G] NM_020765 UBR4 EXON Missense_P800S exm25497 1 19504227 [T/C] NM_020765 UBR4 EXON Missense_T789A exm25513 1 19510596 [T/C] NM_020765 UBR4 EXON Missense_R671Q exm25534 1 19518713 [A/C] NM_020765 UBR4 EXON Missense_V455L exm25554 1 19524224 [A/G] NM_020765 UBR4 EXON Missense_L278S exm25562 1 19525154 [A/C] NM_020765 UBR4 EXON Missense_A177S exm1744229 1 19525294 [A/G] NM_020765 UBR4 EXON Synonymous_D169D exm25564 1 19525376 [T/C] NM_020765 UBR4 EXON Missense_R142Q exm25630 1 19550017 [A/G] NM_015047,NM_001271429,NM_001271427,NM_001271428 EMC1,EMC1,EMC1,EMC1 EXON Missense_A750V,Missense_A728V,Missense_A749V,Missense_A749V exm25631 1 19550018 [T/C] NM_015047,NM_001271429,NM_001271427,NM_001271428 EMC1,EMC1,EMC1,EMC1 EXON Missense_A750T,Missense_A728T,Missense_A749T,Missense_A749T exm1744334 1 19557348 [T/C] NM_015047,NM_001271429,NM_001271427,NM_001271428 EMC1,EMC1,EMC1,EMC1 EXON Missense_R685Q,Missense_R663Q,Missense_R684Q,Missense_R684Q exm25642 1 19557424 [A/G] NM_015047,NM_001271429,NM_001271427,NM_001271428 EMC1,EMC1,EMC1,EMC1 EXON Nonsense_R660X,Nonsense_R638X,Nonsense_R659X,Nonsense_R659X exm25650 1 19557838 [A/G] NM_015047,NM_001271429,NM_001271427,NM_001271428 EMC1,EMC1,EMC1,EMC1 EXON Missense_R621C,Missense_R599C,Missense_R620C,Missense_R620C exm25654 1 19557912 [A/G] NM_015047,NM_001271429,NM_001271427,NM_001271428 EMC1,EMC1,EMC1,EMC1 EXON Missense_S596L,Missense_S574L,Missense_S595L,Missense_S595L exm25678 1 19564513 [A/G] NM_015047,NM_001271429,NM_001271427,NM_001271428 EMC1,EMC1,EMC1,EMC1 EXON Missense_R404W,Missense_R382W,Missense_R403W,Missense_R404W exm25679 1 19564521 [T/C] NM_015047,NM_001271429,NM_001271427,NM_001271428 EMC1,EMC1,EMC1,EMC1 EXON Missense_R401Q,Missense_R379Q,Missense_R400Q,Missense_R401Q exm25681 1 19564554 [A/G] NM_015047,NM_001271429,NM_001271427,NM_001271428 EMC1,EMC1,EMC1,EMC1 EXON Missense_T390M,Missense_T368M,Missense_T389M,Missense_T390M exm25684 1 19564614 [T/C] NM_015047,NM_001271429,NM_001271427,NM_001271428 EMC1,EMC1,EMC1,EMC1 EXON Missense_N370S,Missense_N348S,Missense_N369S,Missense_N370S exm25689 1 19565320 [A/G] NM_015047,NM_001271429,NM_001271427,NM_001271428 EMC1,EMC1,EMC1,EMC1 EXON Missense_M353T,Missense_M331T,Missense_M352T,Missense_M353T exm25690 1 19565338 [T/C] NM_015047,NM_001271429,NM_001271427,NM_001271428 EMC1,EMC1,EMC1,EMC1 EXON Missense_S347N,Missense_S325N,Missense_S346N,Missense_S347N exm25691 1 19565344 [G/C] NM_015047,NM_001271429,NM_001271427,NM_001271428 EMC1,EMC1,EMC1,EMC1 EXON Missense_S345T,Missense_S323T,Missense_S344T,Missense_S345T exm25697 1 19566340 [A/G] NM_015047,NM_001271429,NM_001271427,NM_001271428 EMC1,EMC1,EMC1,EMC1 EXON Missense_T309M,Missense_T287M,Missense_T309M,Missense_T309M exm25701 1 19566382 [A/G] NM_015047,NM_001271429,NM_001271427,NM_001271428 EMC1,EMC1,EMC1,EMC1 EXON Missense_L295S,Missense_L273S,Missense_L295S,Missense_L295S exm25705 1 19566858 [A/G] NM_015047,NM_001271429,NM_001271427,NM_001271428 EMC1,EMC1,EMC1,EMC1 EXON Missense_P240L,Missense_P218L,Missense_P240L,Missense_P240L exm25706 1 19566860 [G/C] NM_015047,NM_001271429,NM_001271427,NM_001271428 EMC1,EMC1,EMC1,EMC1 EXON Missense_D239E,Missense_D217E,Missense_D239E,Missense_D239E exm-rs710865 1 19568972 [A/G] NM_015047,NM_001271429,NM_001271427,NM_001271428 EMC1,EMC1,EMC1,EMC1 Silent,Silent,Silent,Silent exm25751 1 19577943 [T/C] NM_015047,NM_001271429,NM_001271427,NM_001271428 EMC1,EMC1,EMC1,EMC1 EXON Missense_A21T,Missense_A21T,Missense_A21T,Missense_A21T exm25778 1 19583602 [A/G] NM_016183 MRTO4 EXON Missense_R79Q exm25784 1 19583991 [A/G] NM_016183 MRTO4 EXON Missense_N106S exm25785 1 19583994 [A/G] NM_016183 MRTO4 EXON Missense_R107H exm25790 1 19584327 [A/G] NM_016183 MRTO4 EXON Synonymous_E114E exm25791 1 19584329 [C/G] NM_016183 MRTO4 EXON Missense_W115S exm25808 1 19584997 [A/G] NM_016183 MRTO4 EXON Missense_E174K exm25814 1 19585190 [C/G] NM_016183 MRTO4 EXON Missense_E196Q exm25822 1 19585276 [C/G] NM_016183 MRTO4 EXON Missense_E224D exm25899 1 19609262 [T/C] NM_012067 AKR7A3 EXON Missense_H320R exm25927 1 19611241 [T/C] NM_012067 AKR7A3 EXON Missense_N215D exm25930 1 19611267 [A/G] NM_012067 AKR7A3 EXON Missense_T206I exm25939 1 19611583 [T/C] NM_012067 AKR7A3 EXON Missense_Q178R exm2268658 1 19632332 [T/C] NM_003689 AKR7A2 Silent exm25999 1 19633520 [T/C] NM_003689 AKR7A2 EXON Missense_S255N exm26034 1 19635011 [T/C] NM_003689 AKR7A2 EXON Missense_A142T exm26037 1 19635032 [T/C] NM_003689 AKR7A2 EXON Missense_V135M exm1744664 1 19638435 [T/C] NM_003689 AKR7A2 EXON Missense_A62T exm26063 1 19644218 [A/G] NM_017765,NM_001040126,NM_001040125 PQLC2,PQLC2,PQLC2 EXON Missense_S16N,Silent,Missense_S16N exm26086 1 19652766 [T/C] NM_017765,NM_001040126,NM_001040125 PQLC2,PQLC2,PQLC2 EXON Missense_L137S,Missense_L72S,Missense_L137S exm26088 1 19652789 [A/G] NM_017765,NM_001040126,NM_001040125 PQLC2,PQLC2,PQLC2 EXON Missense_A145T,Missense_A80T,Missense_A145T exm26095 1 19652874 [A/G] NM_017765,NM_001040126,NM_001040125 PQLC2,PQLC2,PQLC2 EXON Missense_G173D,Missense_G108D,Missense_G173D exm26106 1 19653802 [G/C] NM_017765,NM_001040126,NM_001040125 PQLC2,PQLC2,PQLC2 EXON Missense_V234L,Missense_V169L,Missense_V234L exm26119 1 19670861 [T/C] NM_004930,NR_038125,NM_001206540 CAPZB,CAPZB,CAPZB EXON Missense_N241S,Silent,Missense_N241S exm-rs12045440 1 19765518 [T/G] NM_004930,NR_038125,NM_001206540 CAPZB,CAPZB,CAPZB Silent,Silent,Silent exm26147 1 19775375 [A/G] NM_004930,NR_038125,NM_001206540 CAPZB,CAPZB,CAPZB Silent,Silent,Silent exm2259924 1 19806692 [T/G] NM_004930,NR_038125,NM_001206540 CAPZB,CAPZB,CAPZB Silent,Silent,Silent exm-rs12138950 1 19839115 [A/C] exm-rs10917468 1 19843354 [T/C] exm1745453 1 19952887 [T/G] NM_001204083,NM_001032363,NM_001204089,NM_001204088,NM_001204082,NR_033758,NR_033757 MINOS1,MINOS1,C1orf151-NBL1,C1orf151-NBL1,MINOS1,MINOS1,MINOS1 EXON Silent,Nonsense_E77X,Silent,Silent,Nonsense_E61X,Silent,Silent exm26180 1 19981530 [T/C] NM_001204089,NM_001204088,NM_182744,NM_001204084,NM_005380,NM_001204085,NM_001204086 C1orf151-NBL1,C1orf151-NBL1,NBL1,NBL1,NBL1,NBL1,NBL1 EXON Missense_L3F,Missense_L17F,Missense_L38F,Missense_L3F,Missense_L3F,Missense_L3F,Missense_L37F exm26195 1 19983491 [A/G] NM_001204089,NM_001204088,NM_182744,NM_001204084,NM_005380,NM_001204085,NM_001204086 C1orf151-NBL1,C1orf151-NBL1,NBL1,NBL1,NBL1,NBL1,NBL1 EXON Missense_E139K,Missense_E153K,Missense_E174K,Missense_E139K,Missense_E139K,Missense_E139K,Missense_E173K exm26216 1 19992380 [C/G] NM_000871 HTR6 EXON Missense_S45W exm2250466 1 19992510 [A/G] NM_000871 HTR6 EXON Synonymous_L88L exm26248 1 20005463 [T/G] NM_000871 HTR6 EXON Missense_G309C exm2250468 1 20005528 [A/G] NM_000871 HTR6 EXON Synonymous_A330A exm26264 1 20005661 [A/C] NM_000871 HTR6 EXON Missense_P375T exm26281 1 20005854 [T/C] NM_000871 HTR6 EXON Missense_T439M exm26299 1 20009745 [A/G] NM_181719 TMCO4 EXON Missense_P565S exm26311 1 20009849 [T/C] NM_181719 TMCO4 EXON Missense_G530E exm26319 1 20020986 [T/C] NM_181719 TMCO4 EXON Missense_G481S exm26323 1 20020994 [T/C] NM_181719 TMCO4 EXON Missense_R478H exm26327 1 20021022 [T/C] NM_181719 TMCO4 EXON Missense_V469M exm2232181 1 20027271 [T/C] NM_181719 TMCO4 EXON Missense_G458S exm26335 1 20027339 [A/G] NM_181719 TMCO4 EXON Missense_A435V exm26337 1 20027355 [T/C] NM_181719 TMCO4 EXON Missense_V430I exm2268659 1 20056631 [T/C] NM_181719 TMCO4 Silent exm2275320 1 20063896 [T/G] NM_181719 TMCO4 EXON Nonsense_Y411X exm26344 1 20063936 [A/G] NM_181719 TMCO4 EXON Missense_V398A exm26352 1 20066405 [T/C] NM_181719 TMCO4 EXON Missense_N364S exm26359 1 20067299 [T/C] NM_181719 TMCO4 EXON Missense_Q338R exm26360 1 20067320 [T/C] NM_181719 TMCO4 EXON Missense_G331D exm1745663 1 20067396 [A/G] NM_181719 TMCO4 EXON Missense_R306C exm26367 1 20072025 [A/G] NM_181719 TMCO4 EXON Missense_R293C exm26370 1 20072058 [T/C] NM_181719 TMCO4 EXON Missense_A282T exm26373 1 20072082 [T/C] NM_181719 TMCO4 EXON Missense_G274S exm26376 1 20072127 [A/G] NM_181719 TMCO4 EXON Nonsense_R259X exm26385 1 20073044 [A/G] NM_181719 TMCO4 EXON Missense_T221M exm1745680 1 20073053 [A/C] NM_181719 TMCO4 EXON Missense_G218V exm26386 1 20073057 [T/C] NM_181719 TMCO4 EXON Missense_A217T exm26394 1 20073700 [T/C] NM_181719 TMCO4 EXON Missense_Y190C exm26395 1 20073703 [T/C] NM_181719 TMCO4 EXON Missense_R189H exm26396 1 20073719 [A/G] NM_181719 TMCO4 EXON Missense_R184W exm26403 1 20082209 [A/G] NM_181719 TMCO4 EXON Missense_L145F exm26405 1 20082230 [T/C] NM_181719 TMCO4 EXON Missense_V138I exm26406 1 20082247 [G/C] NM_181719 TMCO4 EXON Missense_A132G exm26412 1 20097817 [A/G] NM_181719 TMCO4 EXON Missense_P113L exm26418 1 20097941 [T/G] NM_181719 TMCO4 EXON Missense_Q72K exm26419 1 20107076 [T/C] NM_181719 TMCO4 EXON Missense_H59R exm26426 1 20107136 [C/G] NM_181719 TMCO4 EXON Missense_R39P exm26430 1 20107218 [C/G] NM_181719 TMCO4 EXON Missense_P12A exm-rs1317209 1 20140036 [A/G] exm26437 1 20140973 [T/G] NM_019062 RNF186 EXON Missense_P208T exm26438 1 20140974 [T/C] NM_019062 RNF186 EXON Nonsense_W207X exm1746264 1 20141059 [T/C] NM_019062 RNF186 EXON Missense_R179Q exm26442 1 20141060 [A/G] NM_019062 RNF186 EXON Nonsense_R179X exm26450 1 20141126 [T/C] NM_019062 RNF186 EXON Missense_A157T exm26453 1 20141138 [A/G] NM_019062 RNF186 EXON Missense_R153W exm2232242 1 20141180 [C/G] NM_019062 RNF186 EXON Missense_E139Q exm26459 1 20141237 [T/G] NM_019062 RNF186 EXON Missense_P120T exm26474 1 20141405 [T/C] NM_019062 RNF186 EXON Missense_A64T exm26476 1 20141418 [A/C] NM_019062 RNF186 EXON Missense_Q59H exm26481 1 20141464 [T/C] NM_019062 RNF186 EXON Missense_R44Q exm26482 1 20141465 [A/G] NM_019062 RNF186 EXON Missense_R44W exm26484 1 20141528 [T/C] NM_019062 RNF186 EXON Missense_A23T exm26485 1 20141552 [T/C] NM_019062 RNF186 EXON Missense_A15T exm-rs3806308 1 20142866 [T/C] exm26500 1 20216965 [G/C] NM_015207 OTUD3 EXON Missense_M103I exm26507 1 20224085 [A/G] NM_015207 OTUD3 EXON Missense_Y179C exm26508 1 20224118 [A/G] NM_015207 OTUD3 EXON Missense_N190S exm-rs4654925 1 20227723 [C/G] NM_015207 OTUD3 Silent exm1746649 1 20232954 [T/C] NM_015207 OTUD3 EXON Nonsense_R289X exm26519 1 20233051 [A/G] NM_015207 OTUD3 EXON Missense_N321S exm26522 1 20233086 [A/G] NM_015207 OTUD3 EXON Missense_A333T exm26525 1 20234082 [A/G] NM_015207 OTUD3 EXON Missense_R347Q exm26528 1 20234177 [A/G] NM_015207 OTUD3 EXON Missense_S379G exm26530 1 20234222 [A/G] NM_015207 OTUD3 EXON Missense_A394T exm26531 1 20234225 [T/G] NM_015207 OTUD3 EXON Missense_A395S exm26538 1 20246852 [T/C] NM_014589 PLA2G2E EXON Missense_K126R exm26541 1 20246876 [T/C] NM_014589 PLA2G2E EXON Missense_R118H exm26548 1 20248865 [T/C] NM_014589 PLA2G2E EXON Missense_R71H exm26553 1 20249150 [T/C] NM_014589 PLA2G2E EXON Missense_G47S exm26556 1 20249203 [T/C] NM_014589 PLA2G2E EXON Missense_E29G exm26568 1 20302201 [T/C] NM_000300,NM_001161729,NM_001161727,NM_001161728 PLA2G2A,PLA2G2A,PLA2G2A,PLA2G2A EXON Missense_R143H,Missense_R143H,Missense_R143H,Missense_R143H exm26570 1 20302261 [A/G] NM_000300,NM_001161729,NM_001161727,NM_001161728 PLA2G2A,PLA2G2A,PLA2G2A,PLA2G2A EXON Missense_T123M,Missense_T123M,Missense_T123M,Missense_T123M exm26577 1 20304583 [A/G] NM_000300,NM_001161729,NM_001161727,NM_001161728 PLA2G2A,PLA2G2A,PLA2G2A,PLA2G2A EXON Missense_R73C,Missense_R73C,Missense_R73C,Missense_R73C exm26590 1 20305003 [A/G] NM_000300,NM_001161729,NM_001161727,NM_001161728 PLA2G2A,PLA2G2A,PLA2G2A,PLA2G2A EXON Missense_H19Y,Missense_H19Y,Missense_H19Y,Missense_H19Y exm2232279 1 20305016 [A/G] NM_000300,NM_001161729,NM_001161727,NM_001161728 PLA2G2A,PLA2G2A,PLA2G2A,PLA2G2A EXON Synonymous_G14G,Synonymous_G14G,Synonymous_G14G,Synonymous_G14G exm26638 1 20417136 [A/G] NM_000929 PLA2G5 EXON Missense_R123Q exm1747582 1 20440684 [A/G] NM_012400,NM_001271814 PLA2G2D,PLA2G2D EXON Missense_R121C,Silent exm26660 1 20442005 [T/C] NM_012400,NM_001271814 PLA2G2D,PLA2G2D EXON Missense_H96R,Silent exm26662 1 20442054 [T/C] NM_012400,NM_001271814 PLA2G2D,PLA2G2D EXON Missense_S80G,Silent exm26667 1 20442074 [T/C] NM_012400,NM_001271814 PLA2G2D,PLA2G2D EXON Missense_H73R,Silent exm26669 1 20442866 [T/C] NM_012400,NM_001271814 PLA2G2D,PLA2G2D EXON Missense_G49R,Missense_G49R exm26672 1 20442878 [T/C] NM_012400,NM_001271814 PLA2G2D,PLA2G2D EXON Missense_G45S,Missense_G45S exm26674 1 20442892 [A/G] NM_012400,NM_001271814 PLA2G2D,PLA2G2D EXON Missense_S40F,Missense_S40F exm2275431 1 20442928 [A/C] NM_012400,NM_001271814 PLA2G2D,PLA2G2D EXON Missense_M28R,Missense_M28R exm1747660 1 20445950 [A/C] NM_012400,NM_001271814 PLA2G2D,PLA2G2D Silent,Silent exm2232325 1 20466003 [A/G] NM_022819 PLA2G2F EXON Missense_R28H exm26688 1 20466711 [A/G] NM_022819 PLA2G2F EXON Missense_V57I exm26698 1 20470056 [A/G] NM_022819 PLA2G2F EXON Missense_R96H exm26706 1 20471183 [A/G] NM_022819 PLA2G2F Silent exm26708 1 20474766 [T/C] NM_022819 PLA2G2F EXON Nonsense_R170X exm26710 1 20474779 [A/G] NM_022819 PLA2G2F EXON Missense_R174H exm26711 1 20474794 [T/G] NM_022819 PLA2G2F EXON Missense_V179G exm26713 1 20474812 [T/C] NM_022819 PLA2G2F EXON Missense_T185M exm26723 1 20490518 [T/C] NM_001105572 PLA2G2C EXON Missense_Q140R exm2250501 1 20490580 [A/G] NM_001105572 PLA2G2C EXON Synonymous_S119S exm26737 1 20501582 [A/G] NM_001105572 PLA2G2C EXON Nonsense_R36X exm26743 1 20501665 [A/G] NM_001105572 PLA2G2C EXON Missense_F8S exm26759 1 20517463 [A/G] NM_152376 UBXN10 EXON Missense_A137T exm26761 1 20517491 [A/G] NM_152376 UBXN10 EXON Missense_R146Q exm26765 1 20517508 [A/G] NM_152376 UBXN10 EXON Missense_E152K exm26770 1 20517632 [T/C] NM_152376 UBXN10 EXON Missense_S193L exm1747945 1 20517755 [T/C] NM_152376 UBXN10 EXON Missense_T234I exm26775 1 20517763 [T/C] NM_152376 UBXN10 EXON Nonsense_R237X exm26780 1 20517867 [C/G] NM_152376 UBXN10 EXON Missense_I271M exm26789 1 20639370 [A/G] NM_001039500 VWA5B1 EXON Missense_G61S exm26792 1 20639464 [A/G] NM_001039500 VWA5B1 EXON Missense_R92Q exm26794 1 20640830 [A/G] NM_001039500 VWA5B1 EXON Missense_D103G exm26797 1 20640926 [T/C] NM_001039500 VWA5B1 EXON Missense_I135T exm26801 1 20641002 [T/G] NM_001039500 VWA5B1 EXON Missense_R160S exm2232351 1 20641061 [A/G] NM_001039500 VWA5B1 EXON Missense_G180D exm26817 1 20645086 [T/A] NM_001039500 VWA5B1 EXON Missense_V238E exm26821 1 20645133 [T/C] NM_001039500 VWA5B1 EXON Missense_R254C exm26837 1 20649979 [T/C] NM_001039500 VWA5B1 EXON Missense_I366T exm26842 1 20656718 [A/G] NM_001039500 VWA5B1 EXON Missense_D434N exm26845 1 20656824 [A/G] NM_001039500 VWA5B1 EXON Missense_N469S exm26854 1 20657421 [C/G] NM_001039500 VWA5B1 EXON Missense_S506C exm26855 1 20657429 [A/G] NM_001039500 VWA5B1 EXON Missense_E509K exm26856 1 20657463 [A/G] NM_001039500 VWA5B1 EXON Missense_R520Q exm26861 1 20659319 [A/G] NM_001039500 VWA5B1 EXON Missense_I545V exm26868 1 20662938 [A/G] NM_001039500 VWA5B1 EXON Missense_K634R exm26869 1 20662944 [A/C] NM_001039500 VWA5B1 EXON Missense_A636D exm26875 1 20664227 [A/C] NM_001039500 VWA5B1 EXON Missense_D677E exm2232355 1 20664303 [A/G] NM_001039500 VWA5B1 EXON Missense_V703I exm26880 1 20669084 [G/C] NM_001039500 VWA5B1 EXON Missense_R765G exm26890 1 20671961 [A/G] NM_001039500 VWA5B1 EXON Missense_R880H exm26893 1 20672051 [A/G] NM_001039500 VWA5B1 EXON Missense_R910Q exm26903 1 20677416 [T/C] NM_001039500 VWA5B1 EXON Missense_S1007F exm26910 1 20680289 [A/G] NM_001039500 VWA5B1 EXON Missense_E1061K exm26911 1 20680293 [G/C] NM_001039500 VWA5B1 EXON Missense_A1062G exm26925 1 20680718 [A/G] NM_001039500 VWA5B1 EXON Missense_E1204K exm2250514 1 20717763 [A/C] NR_033887 LOC339505 Silent exm26951 1 20827377 [A/G] NM_024544 MUL1 EXON Nonsense_R289X exm26973 1 20827784 [T/C] NM_024544 MUL1 EXON Missense_E153G exm26974 1 20827826 [A/G] NM_024544 MUL1 EXON Missense_V139A exm26976 1 20827848 [T/C] NM_024544 MUL1 EXON Missense_E132K exm1749190 1 20829733 [A/G] NM_024544 MUL1 EXON Missense_P64S exm26990 1 20829761 [A/C] NM_024544 MUL1 EXON Missense_I54M exm26996 1 20834489 [T/C] NM_024544 MUL1 EXON Missense_C10Y exm2273622 1 20879548 [A/G] NM_207334 FAM43B EXON Missense_A28T exm27043 1 20915701 [A/C] NM_001785 CDA EXON Missense_K27Q exm27060 1 20944963 [A/G] NM_001785 CDA EXON Missense_V115M exm27063 1 20945003 [T/C] NM_001785 CDA EXON Missense_T128M exm27064 1 20945036 [G/C] NM_001785 CDA EXON Missense_P139R exm27071 1 20960259 [T/C] NM_032409 PINK1 EXON Missense_S73L exm27075 1 20960385 [A/T] NM_032409 PINK1 EXON Missense_Q115L exm27087 1 20964505 [C/G] NM_032409 PINK1 EXON Missense_K186N exm27088 1 20964534 [T/C] NM_032409 PINK1 EXON Missense_P196L exm27091 1 20964573 [T/C] NM_032409 PINK1 EXON Missense_P209L exm27097 1 20966404 [T/C] NM_032409 PINK1 EXON Missense_A232V exm27099 1 20966454 [T/G] NM_032409 PINK1 EXON Missense_L249V exm27102 1 20971041 [T/C] NM_032409 PINK1 EXON Missense_R279C exm27104 1 20971057 [A/C] NM_032409 PINK1 EXON Missense_S284Y exm27106 1 20971063 [T/C] NM_032409 PINK1 EXON Missense_P286L exm27115 1 20971158 [A/T] NM_032409 PINK1 EXON Missense_M318L exm27120 1 20972096 [A/G] NM_032409 PINK1 EXON Missense_S335G exm27122 1 20972108 [A/G] NM_032409 PINK1 EXON Missense_A339T exm27123 1 20972111 [A/G] NM_032409 PINK1 EXON Missense_A340T exm27128 1 20972168 [A/G] NM_032409 PINK1 EXON Missense_A359T exm2250526 1 20972170 [A/G] NM_032409 PINK1 EXON Synonymous_A359A exm27130 1 20972189 [A/G] NM_032409 PINK1 EXON Missense_D366N exm27131 1 20975021 [A/G] NM_032409 PINK1 EXON Missense_A383T exm27138 1 20975105 [A/G] NM_032409 PINK1 EXON Missense_G411S exm27154 1 20975603 [A/G] NM_032409 PINK1 EXON Missense_Q456R exm27155 1 20975618 [T/G] NM_032409 PINK1 EXON Missense_L461R exm27159 1 20975662 [A/G] NM_032409 PINK1 EXON Missense_E476K exm27163 1 20975724 [A/G] NM_032409 PINK1 EXON Synonymous_K496K exm27164 1 20976940 [A/G] NM_032409 PINK1 EXON Missense_R501Q exm27167 1 20977000 [A/C] NM_032409 PINK1 EXON Missense_N521T exm2264808 1 20978058 [A/G] exm27190 1 20979136 [A/G] NM_005216 DDOST EXON Missense_T400I exm1749330 1 20979148 [T/C] NM_005216 DDOST EXON Missense_R396Q exm1749372 1 20980169 [T/C] NM_005216 DDOST EXON Missense_R315Q exm27208 1 20980267 [T/C] NM_005216 DDOST EXON Synonymous_R282R exm27209 1 20980734 [A/G] NM_005216 DDOST EXON Missense_A276V exm27210 1 20980758 [A/G] NM_005216 DDOST EXON Missense_F268S exm27214 1 20980798 [T/C] NM_005216 DDOST EXON Missense_V255I exm27222 1 20981156 [A/G] NM_005216 DDOST EXON Missense_T216M exm27224 1 20981975 [A/G] NM_005216 DDOST EXON Missense_V187A exm27225 1 20981976 [T/C] NM_005216 DDOST EXON Missense_V187I exm27248 1 20987762 [A/G] NM_005216 DDOST EXON Missense_P45S exm2250529 1 20987808 [C/G] NM_005216 DDOST EXON Synonymous_L29L exm27256 1 20987879 [A/C] NM_005216 DDOST EXON Missense_C6G exm27277 1 20992819 [G/C] NM_001122819,NM_020816 KIF17,KIF17 EXON Missense_D932E,Missense_D933E exm27278 1 20992824 [T/C] NM_001122819,NM_020816 KIF17,KIF17 EXON Missense_E931K,Missense_E932K exm27291 1 20998491 [T/C] NM_001122819,NM_020816 KIF17,KIF17 EXON Missense_E888K,Missense_E888K exm27292 1 20998508 [T/C] NM_001122819,NM_020816 KIF17,KIF17 EXON Missense_R882H,Missense_R882H exm27293 1 20998509 [A/G] NM_001122819,NM_020816 KIF17,KIF17 EXON Missense_R882C,Missense_R882C exm27295 1 20998545 [T/A] NM_001122819,NM_020816 KIF17,KIF17 EXON Missense_R870W,Missense_R870W exm27296 1 20998548 [A/G] NM_001122819,NM_020816 KIF17,KIF17 EXON Missense_R869C,Missense_R869C exm2273623 1 20998568 [T/A] NM_001122819,NM_020816 KIF17,KIF17 EXON Missense_E862V,Missense_E862V exm27298 1 20998598 [T/C] NM_001122819,NM_020816 KIF17,KIF17 EXON Missense_R852H,Missense_R852H exm27306 1 21009189 [T/G] NM_001122819,NM_020816 KIF17,KIF17 EXON Missense_E807A,Missense_E807A exm27310 1 21009211 [T/C] NM_001122819,NM_020816 KIF17,KIF17 EXON Missense_V800I,Missense_V800I exm27319 1 21009279 [T/C] NM_001122819,NM_020816 KIF17,KIF17 EXON Missense_R777H,Missense_R777H exm27321 1 21009294 [T/C] NM_001122819,NM_020816 KIF17,KIF17 EXON Missense_R772H,Missense_R772H exm27327 1 21011330 [T/C] NM_001122819,NM_020816 KIF17,KIF17 EXON Missense_V735I,Missense_V735I exm27329 1 21011338 [A/G] NM_001122819,NM_020816 KIF17,KIF17 EXON Missense_P732L,Missense_P732L exm27333 1 21011401 [A/G] NM_001122819,NM_020816 KIF17,KIF17 EXON Missense_P711L,Missense_P711L exm27340 1 21011510 [T/C] NM_001122819,NM_020816 KIF17,KIF17 EXON Missense_V675I,Missense_V675I exm27344 1 21012549 [A/G] NM_001122819,NM_020816 KIF17,KIF17 EXON Missense_P670L,Missense_P670L exm27347 1 21012595 [T/C] NM_001122819,NM_020816 KIF17,KIF17 EXON Missense_E655K,Missense_E655K exm27348 1 21012609 [A/G] NM_001122819,NM_020816 KIF17,KIF17 EXON Missense_P650L,Missense_P650L exm27357 1 21013958 [A/C] NM_001122819,NM_020816 KIF17,KIF17 EXON Missense_A621S,Missense_A621S exm27362 1 21014017 [A/G] NM_001122819,NM_020816 KIF17,KIF17 EXON Missense_P601L,Missense_P601L exm27363 1 21014027 [C/G] NM_001122819,NM_020816 KIF17,KIF17 EXON Missense_Q598E,Missense_Q598E exm27372 1 21014075 [T/C] NM_001122819,NM_020816 KIF17,KIF17 EXON Missense_G582R,Missense_G582R exm27381 1 21014202 [A/T] NM_001122819,NM_020816 KIF17,KIF17 EXON Missense_S539R,Missense_S539R exm27390 1 21014335 [A/G] NM_001122819,NM_020816 KIF17,KIF17 EXON Missense_V495A,Missense_V495A exm27401 1 21016771 [A/G] NM_001122819,NM_020816 KIF17,KIF17 EXON Missense_R431W,Missense_R431W exm27405 1 21016815 [T/C] NM_001122819,NM_020816 KIF17,KIF17 EXON Missense_R416H,Missense_R416H exm27412 1 21024901 [T/C] NM_001122819,NM_020816 KIF17,KIF17 EXON Missense_V402M,Missense_V402M exm27418 1 21030956 [T/G] NM_001122819,NM_020816 KIF17,KIF17 EXON Missense_S369R,Missense_S369R exm27424 1 21031042 [T/C] NM_001122819,NM_020816 KIF17,KIF17 EXON Missense_I341V,Missense_I341V exm27436 1 21031125 [A/G] NM_001122819,NM_020816 KIF17,KIF17 EXON Missense_S313L,Missense_S313L exm27439 1 21031152 [G/C] NM_001122819,NM_020816 KIF17,KIF17 EXON Missense_T304S,Missense_T304S exm27440 1 21031159 [T/C] NM_001122819,NM_020816 KIF17,KIF17 EXON Missense_G302S,Missense_G302S exm2259945 1 21031983 [A/G] NM_001122819,NM_020816 KIF17,KIF17 Silent,Silent exm27463 1 21036276 [T/C] NM_001122819,NM_020816 KIF17,KIF17 EXON Missense_M176V,Missense_M176V exm27464 1 21036291 [T/C] NM_001122819,NM_020816 KIF17,KIF17 EXON Missense_V171M,Missense_V171M exm27473 1 21042018 [T/C] NM_001122819,NM_020816 KIF17,KIF17 EXON Missense_R116G,Missense_R116G exm27474 1 21042033 [T/C] NM_001122819,NM_020816 KIF17,KIF17 EXON Missense_R111G,Missense_R111G exm27476 1 21042050 [C/G] NM_001122819,NM_020816 KIF17,KIF17 EXON Missense_P105R,Missense_P105R exm27487 1 21043968 [T/C] NM_001122819,NM_020816 KIF17,KIF17 Silent,Silent exm27489 1 21044007 [T/C] NM_001122819,NM_020816 KIF17,KIF17 EXON Missense_E65K,Missense_E65K exm27493 1 21044052 [T/C] NM_001122819,NM_020816 KIF17,KIF17 EXON Missense_K50E,Missense_K50E exm27495 1 21044070 [T/C] NM_001122819,NM_020816 KIF17,KIF17 EXON Missense_A44T,Missense_A44T exm1751058 1 21048439 [A/G] NM_001103161,NM_001103160 SH2D5,SH2D5 EXON Missense_A373V,Missense_A289V exm27506 1 21048472 [A/G] NM_001103161,NM_001103160 SH2D5,SH2D5 EXON Missense_F362S,Missense_F278S exm27512 1 21049313 [T/C] NM_001103161,NM_001103160 SH2D5,SH2D5 EXON Missense_R335H,Missense_R251H exm27513 1 21049317 [T/C] NM_001103161,NM_001103160 SH2D5,SH2D5 EXON Missense_V334M,Missense_V250M exm27520 1 21050155 [A/G] NM_001103161,NM_001103160 SH2D5,SH2D5 EXON Missense_L291P,Missense_L207P exm27537 1 21050719 [T/C] NM_001103161,NM_001103160 SH2D5,SH2D5 EXON Missense_R219H,Missense_R135H exm27543 1 21050921 [A/G] NM_001103161,NM_001103160 SH2D5,SH2D5 EXON Missense_R200W,Missense_R116W exm27548 1 21050969 [T/C] NM_001103161,NM_001103160 SH2D5,SH2D5 EXON Missense_G184S,Missense_G100S exm27552 1 21051058 [T/C] NM_001103161,NM_001103160 SH2D5,SH2D5 EXON Missense_R154Q,Missense_R70Q exm27554 1 21051116 [A/G] NM_001103161,NM_001103160 SH2D5,SH2D5 EXON Missense_H135Y,Missense_H51Y exm27561 1 21052477 [C/G] NM_001103161,NM_001103160 SH2D5,SH2D5 EXON Missense_R109P,Missense_R25P exm1751106 1 21052532 [A/G] NM_001103161,NM_001103160 SH2D5,SH2D5 EXON Missense_R91C,Missense_R7C exm27574 1 21054041 [A/C] NM_001103161,NM_001103160 SH2D5,SH2D5 EXON Missense_V48G,Silent exm27580 1 21054480 [A/G] NM_001103161,NM_001103160 SH2D5,SH2D5 EXON Missense_R20W,Silent exm1751193 1 21054485 [T/G] NM_001103161,NM_001103160 SH2D5,SH2D5 EXON Missense_P18H,Silent exm27586 1 21071402 [T/C] NM_016287 HP1BP3 EXON Missense_K517R exm27587 1 21071406 [T/G] NM_016287 HP1BP3 EXON Missense_I516L exm27595 1 21071549 [T/C] NM_016287 HP1BP3 EXON Missense_K468R exm2250557 1 21072050 [A/C] NM_016287 HP1BP3 EXON Synonymous_P451P exm27638 1 21106855 [T/C] NM_016287 HP1BP3 EXON Missense_A27T exm27655 1 21137376 [A/G] NM_001198801,NM_003760,NM_001198802 EIF4G3,EIF4G3,EIF4G3 EXON Synonymous_A1513A,Synonymous_A1477A,Synonymous_A1483A exm27666 1 21155679 [A/G] NM_001198801,NM_003760,NM_001198802 EIF4G3,EIF4G3,EIF4G3 EXON Missense_M1363T,Missense_M1327T,Missense_M1333T exm27682 1 21177755 [A/C] NM_001198801,NM_003760,NM_001198802 EIF4G3,EIF4G3,EIF4G3 EXON Missense_E1236D,Missense_E1200D,Missense_E1206D exm27684 1 21177800 [T/A] NM_001198801,NM_003760,NM_001198802 EIF4G3,EIF4G3,EIF4G3 EXON Missense_D1221E,Missense_D1185E,Missense_D1191E exm27686 1 21177892 [T/C] NM_001198801,NM_003760,NM_001198802 EIF4G3,EIF4G3,EIF4G3 EXON Missense_G1191S,Missense_G1155S,Missense_G1161S exm27691 1 21180098 [A/G] NM_001198801,NM_003760,NM_001198802 EIF4G3,EIF4G3,EIF4G3 EXON Missense_T1149M,Missense_T1113M,Missense_T1119M exm27694 1 21180162 [A/G] NM_001198801,NM_003760,NM_001198802 EIF4G3,EIF4G3,EIF4G3 EXON Missense_R1128W,Missense_R1092W,Missense_R1098W exm27708 1 21191148 [A/G] NM_001198801,NM_003760,NM_001198802 EIF4G3,EIF4G3,EIF4G3 EXON Missense_R923W,Missense_R887W,Missense_R893W exm27730 1 21226211 [A/C] NM_001198801,NM_003760,NM_001198802 EIF4G3,EIF4G3,EIF4G3 EXON Missense_V603F,Missense_V604F,Missense_V610F exm27733 1 21226375 [T/C] NM_001198801,NM_003760,NM_001198802 EIF4G3,EIF4G3,EIF4G3 EXON Missense_S548N,Missense_S549N,Missense_S555N exm27735 1 21226402 [A/G] NM_001198801,NM_003760,NM_001198802 EIF4G3,EIF4G3,EIF4G3 EXON Missense_V539A,Missense_V540A,Missense_V546A exm27743 1 21231453 [T/C] NM_001198801,NM_003760,NM_001198802 EIF4G3,EIF4G3,EIF4G3 EXON Missense_I502V,Missense_I503V,Missense_I509V exm27744 1 21231460 [T/G] NM_001198801,NM_003760,NM_001198802 EIF4G3,EIF4G3,EIF4G3 EXON Missense_Q499H,Missense_Q500H,Missense_Q506H exm27747 1 21267993 [C/G] NM_001198801,NM_003760,NM_001198802,NM_001198803 EIF4G3,EIF4G3,EIF4G3,EIF4G3 EXON Missense_P495A,Missense_P496A,Missense_P502A,Missense_P507A exm27748 1 21268050 [T/C] NM_001198801,NM_003760,NM_001198802,NM_001198803 EIF4G3,EIF4G3,EIF4G3,EIF4G3 EXON Missense_A476T,Missense_A477T,Missense_A483T,Missense_A488T exm27749 1 21268143 [T/C] NM_001198801,NM_003760,NM_001198802,NM_001198803 EIF4G3,EIF4G3,EIF4G3,EIF4G3 EXON Missense_I445V,Missense_I446V,Missense_I452V,Missense_I457V exm27751 1 21268164 [T/C] NM_001198801,NM_003760,NM_001198802,NM_001198803 EIF4G3,EIF4G3,EIF4G3,EIF4G3 EXON Missense_V438I,Missense_V439I,Missense_V445I,Missense_V450I exm27753 1 21268194 [G/C] NM_001198801,NM_003760,NM_001198802,NM_001198803 EIF4G3,EIF4G3,EIF4G3,EIF4G3 EXON Missense_P428A,Missense_P429A,Missense_P435A,Missense_P440A exm27764 1 21268346 [T/C] NM_001198801,NM_003760,NM_001198802,NM_001198803 EIF4G3,EIF4G3,EIF4G3,EIF4G3 EXON Missense_Q377R,Missense_Q378R,Missense_Q384R,Missense_Q389R exm27767 1 21268421 [A/G] NM_001198801,NM_003760,NM_001198802,NM_001198803 EIF4G3,EIF4G3,EIF4G3,EIF4G3 EXON Missense_T352I,Missense_T353I,Missense_T359I,Missense_T364I exm1758770 1 21268475 [T/A] NM_001198801,NM_003760,NM_001198802,NM_001198803 EIF4G3,EIF4G3,EIF4G3,EIF4G3 EXON Missense_I334K,Missense_I335K,Missense_I341K,Missense_I346K exm27774 1 21268644 [T/C] NM_001198801,NM_003760,NM_001198802,NM_001198803 EIF4G3,EIF4G3,EIF4G3,EIF4G3 EXON Missense_I278V,Missense_I279V,Missense_I285V,Missense_I290V exm27777 1 21268710 [T/C] NM_001198801,NM_003760,NM_001198802,NM_001198803 EIF4G3,EIF4G3,EIF4G3,EIF4G3 EXON Missense_V256I,Missense_V257I,Missense_V263I,Missense_V268I exm27790 1 21306835 [T/C] NM_001198801,NM_003760,NM_001198802,NM_001198803 EIF4G3,EIF4G3,EIF4G3,EIF4G3 EXON Missense_N106S,Missense_N106S,Missense_N113S,Missense_N117S exm27792 1 21306857 [A/G] NM_001198801,NM_003760,NM_001198802,NM_001198803 EIF4G3,EIF4G3,EIF4G3,EIF4G3 EXON Missense_P99S,Missense_P99S,Missense_P106S,Missense_P110S exm27794 1 21306889 [T/G] NM_001198801,NM_003760,NM_001198802,NM_001198803 EIF4G3,EIF4G3,EIF4G3,EIF4G3 EXON Missense_Q88P,Missense_Q88P,Missense_Q95P,Missense_Q99P exm27797 1 21306910 [T/G] NM_001198801,NM_003760,NM_001198802,NM_001198803 EIF4G3,EIF4G3,EIF4G3,EIF4G3 EXON Missense_P81H,Missense_P81H,Missense_P88H,Missense_P92H exm27815 1 21546459 [T/C] NM_001113348,NM_001113347,NM_001397,NM_001113349 ECE1,ECE1,ECE1,ECE1 EXON Missense_E752K,Missense_E756K,Missense_E768K,Missense_E765K exm27820 1 21546612 [T/C] NM_001113348,NM_001113347,NM_001397,NM_001113349 ECE1,ECE1,ECE1,ECE1 EXON Missense_V701I,Missense_V705I,Missense_V717I,Missense_V714I exm27825 1 21551745 [A/G] NM_001113348,NM_001113347,NM_001397,NM_001113349 ECE1,ECE1,ECE1,ECE1 EXON Missense_R664W,Missense_R668W,Missense_R680W,Missense_R677W exm2250731 1 21551809 [T/C] NM_001113348,NM_001113347,NM_001397,NM_001113349 ECE1,ECE1,ECE1,ECE1 EXON Synonymous_P642P,Synonymous_P646P,Synonymous_P658P,Synonymous_P655P exm27831 1 21551823 [T/C] NM_001113348,NM_001113347,NM_001397,NM_001113349 ECE1,ECE1,ECE1,ECE1 EXON Missense_V638M,Missense_V642M,Missense_V654M,Missense_V651M exm27836 1 21551904 [A/G] NM_001113348,NM_001113347,NM_001397,NM_001113349 ECE1,ECE1,ECE1,ECE1 EXON Missense_R611W,Missense_R615W,Missense_R627W,Missense_R624W exm27850 1 21560060 [T/C] NM_001113348,NM_001113347,NM_001397,NM_001113349 ECE1,ECE1,ECE1,ECE1 EXON Missense_N538S,Missense_N542S,Missense_N554S,Missense_N551S exm27858 1 21562343 [A/G] NM_001113348,NM_001113347,NM_001397,NM_001113349 ECE1,ECE1,ECE1,ECE1 EXON Synonymous_D506D,Synonymous_D510D,Synonymous_D522D,Synonymous_D519D exm27859 1 21562354 [T/C] NM_001113348,NM_001113347,NM_001397,NM_001113349 ECE1,ECE1,ECE1,ECE1 EXON Missense_V503M,Missense_V507M,Missense_V519M,Missense_V516M exm27867 1 21564631 [T/C] NM_001113348,NM_001113347,NM_001397,NM_001113349 ECE1,ECE1,ECE1,ECE1 EXON Missense_S446N,Missense_S450N,Missense_S462N,Missense_S459N exm27870 1 21571570 [T/C] NM_001113348,NM_001113347,NM_001397,NM_001113349 ECE1,ECE1,ECE1,ECE1 EXON Missense_N381S,Missense_N385S,Missense_N397S,Missense_N394S exm27879 1 21573802 [T/C] NM_001113348,NM_001113347,NM_001397,NM_001113349 ECE1,ECE1,ECE1,ECE1 EXON Missense_V343M,Missense_V347M,Missense_V359M,Missense_V356M exm27881 1 21573817 [T/C] NM_001113348,NM_001113347,NM_001397,NM_001113349 ECE1,ECE1,ECE1,ECE1 EXON Missense_T338A,Missense_T342A,Missense_T354A,Missense_T351A exm27882 1 21573855 [A/G] NM_001113348,NM_001113347,NM_001397,NM_001113349 ECE1,ECE1,ECE1,ECE1 EXON Missense_T325I,Missense_T329I,Missense_T341I,Missense_T338I exm27891 1 21582583 [T/C] NM_001113348,NM_001113347,NM_001397,NM_001113349 ECE1,ECE1,ECE1,ECE1 EXON Missense_G277S,Missense_G281S,Missense_G293S,Missense_G290S exm27906 1 21586808 [T/C] NM_001113348,NM_001113347,NM_001397,NM_001113349 ECE1,ECE1,ECE1,ECE1 EXON Missense_I175V,Missense_I179V,Missense_I191V,Missense_I188V exm27911 1 21586862 [T/C] NM_001113348,NM_001113347,NM_001397,NM_001113349 ECE1,ECE1,ECE1,ECE1 EXON Missense_E157K,Missense_E161K,Missense_E173K,Missense_E170K exm27920 1 21599272 [A/G] NM_001113348,NM_001113347,NM_001397,NM_001113349 ECE1,ECE1,ECE1,ECE1 EXON Missense_P122L,Missense_P126L,Missense_P138L,Missense_P135L exm27926 1 21605750 [A/C] NM_001113348,NM_001113347,NM_001397,NM_001113349 ECE1,ECE1,ECE1,ECE1 EXON Missense_L56V,Missense_L60V,Missense_L72V,Missense_L69V exm2263817 1 21629447 [A/C] NM_001113348 ECE1 Silent exm-rs4654748 1 21786068 [T/C] NM_001256416,NM_001256417,NM_032264,NR_046176 NBPF3,NBPF3,NBPF3,NBPF3 Silent,Silent,Silent,Silent exm27955 1 21795375 [T/C] NM_001256416,NM_001256417,NM_032264,NR_046176 NBPF3,NBPF3,NBPF3,NBPF3 EXON Missense_R110W,Silent,Missense_R110W,Silent exm27957 1 21795388 [A/G] NM_001256416,NM_001256417,NM_032264,NR_046176 NBPF3,NBPF3,NBPF3,NBPF3 EXON Missense_Y114C,Silent,Missense_Y114C,Silent exm27961 1 21797204 [C/G] NM_001256416,NM_001256417,NM_032264,NR_046176 NBPF3,NBPF3,NBPF3,NBPF3 EXON Missense_E141D,Missense_E71D,Missense_E141D,Silent exm27963 1 21797221 [A/G] NM_001256416,NM_001256417,NM_032264,NR_046176 NBPF3,NBPF3,NBPF3,NBPF3 EXON Missense_E147G,Missense_E77G,Missense_E147G,Silent exm27993 1 21799979 [A/G] NM_001256416,NM_001256417,NM_032264,NR_046176 NBPF3,NBPF3,NBPF3,NBPF3 EXON Missense_G281R,Missense_G211R,Missense_G281R,Silent exm28004 1 21801440 [C/G] NM_001256416,NM_001256417,NM_032264,NR_046176 NBPF3,NBPF3,NBPF3,NBPF3 EXON Missense_P330A,Missense_P260A,Missense_P330A,Silent exm28008 1 21801444 [T/G] NM_001256416,NM_001256417,NM_032264,NR_046176 NBPF3,NBPF3,NBPF3,NBPF3 EXON Missense_R331I,Missense_R261M,Missense_R331M,Silent exm-rs1780324 1 21821757 [A/G] exm-rs1697421 1 21823292 [T/C] exm28108 1 21887629 [A/G] NM_000478,NM_001127501,NM_001177520 ALPL,ALPL,ALPL EXON Missense_K74R,Missense_K19R,Silent exm28122 1 21889718 [A/G] NM_000478,NM_001127501,NM_001177520 ALPL,ALPL,ALPL EXON Missense_R138Q,Missense_R83Q,Missense_R61Q exm28124 1 21889741 [A/G] NM_000478,NM_001127501,NM_001177520 ALPL,ALPL,ALPL EXON Missense_E146K,Missense_E91K,Missense_E69K exm28126 1 21889759 [T/C] NM_000478,NM_001127501,NM_001177520 ALPL,ALPL,ALPL EXON Missense_R152C,Missense_R97C,Missense_R75C exm28129 1 21890590 [A/G] NM_000478,NM_001127501,NM_001177520 ALPL,ALPL,ALPL EXON Missense_A177T,Missense_A122T,Missense_A100T exm28131 1 21890632 [A/G] NM_000478,NM_001127501,NM_001177520 ALPL,ALPL,ALPL EXON Missense_E191K,Missense_E136K,Missense_E114K exm28137 1 21890709 [T/C] NM_000478,NM_001127501,NM_001177520 ALPL,ALPL,ALPL EXON Synonymous_D216D,Synonymous_D161D,Synonymous_D139D exm28140 1 21894682 [T/C] NM_000478,NM_001127501,NM_001177520 ALPL,ALPL,ALPL EXON Missense_T245M,Missense_T190M,Missense_T168M exm28144 1 21894735 [T/C] NM_000478,NM_001127501,NM_001177520 ALPL,ALPL,ALPL EXON Missense_Y263H,Missense_Y208H,Missense_Y186H exm28147 1 21896819 [T/C] NM_000478,NM_001127501,NM_001177520 ALPL,ALPL,ALPL EXON Missense_R272C,Missense_R217C,Missense_R195C exm28148 1 21896823 [T/C] NM_000478,NM_001127501,NM_001177520 ALPL,ALPL,ALPL EXON Missense_T273M,Missense_T218M,Missense_T196M exm28158 1 21900176 [A/C] NM_000478,NM_001127501,NM_001177520 ALPL,ALPL,ALPL EXON Missense_D294A,Missense_D239A,Missense_D217A exm28184 1 21903947 [A/G] NM_000478,NM_001127501,NM_001177520 ALPL,ALPL,ALPL EXON Missense_V461I,Missense_V406I,Missense_V384I exm28202 1 21924217 [T/C] NM_001145658,NM_001145657,NM_002885 RAP1GAP,RAP1GAP,RAP1GAP EXON Missense_C727Y,Missense_C681Y,Missense_C663Y exm28209 1 21924509 [A/G] NM_001145658,NM_001145657,NM_002885 RAP1GAP,RAP1GAP,RAP1GAP EXON Missense_A707V,Missense_A661V,Missense_A643V exm28213 1 21924530 [A/G] NM_001145658,NM_001145657,NM_002885 RAP1GAP,RAP1GAP,RAP1GAP EXON Missense_A700V,Missense_A654V,Missense_A636V exm28214 1 21924531 [T/C] NM_001145658,NM_001145657,NM_002885 RAP1GAP,RAP1GAP,RAP1GAP EXON Missense_A700T,Missense_A654T,Missense_A636T exm28215 1 21924545 [A/G] NM_001145658,NM_001145657,NM_002885 RAP1GAP,RAP1GAP,RAP1GAP EXON Missense_S695L,Silent,Missense_S631L exm28218 1 21924946 [T/C] NM_001145658,NM_001145657,NM_002885 RAP1GAP,RAP1GAP,RAP1GAP EXON Missense_Y673C,Missense_Y635C,Missense_Y609C exm28220 1 21924961 [T/C] NM_001145658,NM_001145657,NM_002885 RAP1GAP,RAP1GAP,RAP1GAP EXON Missense_R668Q,Missense_R630Q,Missense_R604Q exm28225 1 21926031 [T/C] NM_001145658,NM_001145657,NM_002885 RAP1GAP,RAP1GAP,RAP1GAP EXON Missense_V642M,Missense_V604M,Missense_V578M exm28227 1 21926063 [T/C] NM_001145658,NM_001145657,NM_002885 RAP1GAP,RAP1GAP,RAP1GAP EXON Missense_R631H,Missense_R593H,Missense_R567H exm28232 1 21926097 [T/C] NM_001145658,NM_001145657,NM_002885 RAP1GAP,RAP1GAP,RAP1GAP EXON Missense_A620T,Missense_A582T,Missense_A556T exm28233 1 21926100 [A/C] NM_001145658,NM_001145657,NM_002885 RAP1GAP,RAP1GAP,RAP1GAP EXON Missense_A619S,Missense_A581S,Missense_A555S exm28267 1 21932618 [T/G] NM_001145658,NM_001145657,NM_002885 RAP1GAP,RAP1GAP,RAP1GAP EXON Missense_T521P,Missense_T457P,Missense_T457P exm28277 1 21934818 [T/C] NM_001145658,NM_001145657,NM_002885 RAP1GAP,RAP1GAP,RAP1GAP EXON Missense_E459G,Missense_E395G,Missense_E395G exm28290 1 21936639 [T/C] NM_001145658,NM_001145657,NM_002885 RAP1GAP,RAP1GAP,RAP1GAP EXON Missense_G389R,Missense_G325R,Missense_G325R exm28301 1 21938009 [T/C] NM_001145658,NM_001145657,NM_002885 RAP1GAP,RAP1GAP,RAP1GAP EXON Missense_R324H,Missense_R260H,Missense_R260H exm28306 1 21938261 [T/C] NM_001145658,NM_001145657,NM_002885 RAP1GAP,RAP1GAP,RAP1GAP EXON Missense_V285M,Missense_V221M,Missense_V221M exm28316 1 21938562 [G/C] NM_001145658,NM_001145657,NM_002885 RAP1GAP,RAP1GAP,RAP1GAP EXON Missense_S254T,Missense_S190T,Missense_S190T exm28317 1 21938584 [T/C] NM_001145658,NM_001145657,NM_002885 RAP1GAP,RAP1GAP,RAP1GAP EXON Missense_T247A,Missense_T183A,Missense_T183A exm28334 1 21940555 [T/C] NM_001145658,NM_001145657,NM_002885 RAP1GAP,RAP1GAP,RAP1GAP EXON Missense_A171T,Missense_A107T,Missense_A107T exm28337 1 21943804 [T/C] NM_001145658,NM_001145657,NM_002885 RAP1GAP,RAP1GAP,RAP1GAP EXON Missense_G160S,Missense_G96S,Missense_G96S exm28371 1 21976289 [T/C] NM_001145658,NM_001145657,NM_002885 RAP1GAP,RAP1GAP,RAP1GAP EXON Synonymous_G15G,Silent,Silent exm28409 1 22028029 [A/C] NM_032236 USP48 EXON Missense_A897S exm28422 1 22030875 [A/T] NM_032236 USP48 EXON Missense_I799L exm28423 1 22030884 [T/C] NM_032236 USP48 EXON Missense_I796V exm28443 1 22041883 [A/G] NM_032236 USP48 EXON Synonymous_H654H exm28448 1 22047655 [T/C] NM_032236 USP48 EXON Missense_D590N exm1762696 1 22050463 [T/C] NM_032236 USP48 EXON Missense_I526V exm28452 1 22050466 [T/A] NM_032236 USP48 EXON Missense_S525T exm28459 1 22055176 [T/C] NM_032236,NM_001032730 USP48,USP48 EXON Missense_K446R,Missense_K446R exm28465 1 22056281 [T/C] NM_032236,NM_001032730 USP48,USP48 EXON Missense_G406R,Missense_G406R exm28476 1 22078023 [T/C] NM_032236,NM_001032730 USP48,USP48 EXON Missense_D251N,Missense_D251N exm28477 1 22078103 [T/C] NM_032236,NM_001032730 USP48,USP48 EXON Missense_N224S,Missense_N224S exm28485 1 22083068 [A/G] NM_032236,NM_001032730 USP48,USP48 EXON Missense_M128T,Missense_M128T exm28500 1 22140931 [A/C] NM_001013693 LDLRAD2 EXON Missense_D42E exm28511 1 22141206 [A/C] NM_001013693 LDLRAD2 EXON Missense_N134T exm2273624 1 22141269 [T/G] NM_001013693 LDLRAD2 EXON Missense_R155L exm28515 1 22142456 [T/C] NM_001013693 LDLRAD2 EXON Missense_R178C exm28520 1 22142525 [A/G] NM_001013693 LDLRAD2 EXON Missense_D201N exm28535 1 22149897 [A/G] NM_001013693,NM_005529 LDLRAD2,HSPG2 EXON Silent,Missense_S4363L exm28537 1 22149952 [T/C] NM_001013693,NM_005529 LDLRAD2,HSPG2 EXON Silent,Missense_G4345R exm28539 1 22149967 [T/C] NM_001013693,NM_005529 LDLRAD2,HSPG2 EXON Silent,Missense_V4340M exm28543 1 22150118 [T/C] NM_001013693,NM_005529 LDLRAD2,HSPG2 EXON Silent,Missense_V4332I exm28545 1 22150120 [T/C] NM_001013693,NM_005529 LDLRAD2,HSPG2 EXON Silent,Missense_S4331N exm28546 1 22150130 [T/C] NM_001013693,NM_005529 LDLRAD2,HSPG2 EXON Silent,Missense_A4328T exm28552 1 22150183 [T/G] NM_001013693,NM_005529 LDLRAD2,HSPG2 EXON Silent,Missense_D4310A exm28556 1 22150627 [C/G] NM_001013693,NM_005529 LDLRAD2,HSPG2 EXON Silent,Missense_V4296L exm28557 1 22150639 [T/C] NM_001013693,NM_005529 LDLRAD2,HSPG2 EXON Silent,Missense_E4292K exm28558 1 22150671 [T/C] NM_001013693,NM_005529 LDLRAD2,HSPG2 EXON Silent,Missense_R4281H exm2250773 1 22150813 [A/C] NM_001013693,NM_005529 LDLRAD2,HSPG2 EXON Silent,Synonymous_G4267G exm28574 1 22154365 [T/C] NM_005529 HSPG2 EXON Missense_G4194R exm28590 1 22154900 [T/C] NM_005529 HSPG2 EXON Missense_R4086Q exm28591 1 22154901 [A/G] NM_005529 HSPG2 EXON Missense_R4086W exm28593 1 22155345 [A/G] NM_005529 HSPG2 EXON Missense_R4074C exm28595 1 22155353 [A/G] NM_005529 HSPG2 EXON Missense_A4071V exm28596 1 22155455 [A/C] NM_005529 HSPG2 EXON Missense_R4037L exm28609 1 22155886 [A/C] NM_005529 HSPG2 EXON Missense_E3994D exm2275432 1 22156005 [A/C] NM_005529 HSPG2 EXON Missense_V3955L exm28622 1 22156020 [T/C] NM_005529 HSPG2 EXON Missense_E3950K exm28624 1 22156041 [T/C] NM_005529 HSPG2 EXON Missense_A3943T exm28634 1 22156531 [T/G] NM_005529 HSPG2 EXON Missense_T3909P exm2250776 1 22157578 [A/G] NM_005529 HSPG2 EXON Synonymous_G3856G exm28651 1 22157724 [G/C] NM_005529 HSPG2 EXON Missense_R3849P exm28652 1 22157754 [A/G] NM_005529 HSPG2 EXON Missense_A3839V exm28655 1 22157788 [T/C] NM_005529 HSPG2 EXON Missense_E3828K exm28659 1 22157809 [A/G] NM_005529 HSPG2 EXON Missense_R3821W exm28669 1 22158203 [T/C] NM_005529 HSPG2 EXON Missense_S3765N exm28673 1 22158219 [T/C] NM_005529 HSPG2 EXON Missense_V3760M exm2250777 1 22159008 [A/C] NM_005529 HSPG2 EXON Synonymous_V3729V exm2232532 1 22159778 [T/C] NM_005529 HSPG2 EXON Missense_R3693Q exm28692 1 22159779 [A/G] NM_005529 HSPG2 EXON Missense_R3693W exm28693 1 22159784 [A/G] NM_005529 HSPG2 EXON Missense_T3691I exm28701 1 22160001 [T/C] NM_005529 HSPG2 EXON Missense_R3646H exm1763213 1 22160011 [T/C] NM_005529 HSPG2 EXON Missense_A3643T exm28704 1 22160020 [T/C] NM_005529 HSPG2 EXON Missense_V3640I exm28706 1 22160043 [T/C] NM_005529 HSPG2 EXON Missense_R3632Q exm28720 1 22161190 [T/C] NM_005529 HSPG2 EXON Missense_V3568I exm28728 1 22161283 [T/C] NM_005529 HSPG2 EXON Missense_G3537R exm28732 1 22161367 [T/C] NM_005529 HSPG2 EXON Missense_E3509K exm28735 1 22161394 [T/C] NM_005529 HSPG2 EXON Missense_V3500M exm28737 1 22161432 [T/G] NM_005529 HSPG2 EXON Missense_P3487H exm28745 1 22163370 [T/C] NM_005529 HSPG2 EXON Missense_R3427Q exm28750 1 22163436 [A/G] NM_005529 HSPG2 EXON Missense_T3405M exm2277027 1 22163446 [T/C] NM_005529 HSPG2 EXON Missense_V3402M exm1763262 1 22163446 [C/G] NM_005529 HSPG2 EXON Missense_V3402L exm28761 1 22165372 [A/G] NM_005529 HSPG2 EXON Missense_R3366W exm28772 1 22165528 [T/C] NM_005529 HSPG2 EXON Missense_E3314K exm28779 1 22165894 [T/C] NM_005529 HSPG2 EXON Missense_A3287T exm28782 1 22165963 [T/C] NM_005529 HSPG2 EXON Missense_I3264V exm28783 1 22165983 [T/C] NM_005529 HSPG2 EXON Missense_R3257Q exm28784 1 22165987 [A/G] NM_005529 HSPG2 EXON Missense_H3256Y exm28787 1 22166034 [A/G] NM_005529 HSPG2 EXON Missense_A3240V exm28796 1 22166460 [C/G] NM_005529 HSPG2 EXON Missense_Q3188H exm28800 1 22167605 [T/C] NM_005529 HSPG2 EXON Missense_A3168T exm28802 1 22167695 [T/C] NM_005529 HSPG2 EXON Missense_G3138R exm28808 1 22168033 [A/G] NM_005529 HSPG2 EXON Synonymous_H3109H exm28816 1 22168125 [T/C] NM_005529 HSPG2 EXON Missense_V3079M exm28827 1 22168801 [T/C] NM_005529 HSPG2 EXON Missense_S2995G exm28831 1 22168843 [T/C] NM_005529 HSPG2 EXON Missense_V2981I exm28832 1 22168845 [A/T] NM_005529 HSPG2 EXON Missense_L2980H exm28835 1 22169273 [A/G] NM_005529 HSPG2 EXON Missense_A2967V exm28836 1 22169274 [T/C] NM_005529 HSPG2 EXON Missense_A2967T exm28840 1 22169325 [T/C] NM_005529 HSPG2 EXON Missense_G2950R exm28854 1 22170648 [T/C] NM_005529 HSPG2 EXON Missense_R2870Q exm28855 1 22170652 [G/C] NM_005529 HSPG2 EXON Missense_A2869P exm28857 1 22170681 [A/G] NM_005529 HSPG2 EXON Missense_T2859M exm28862 1 22170712 [A/C] NM_005529 HSPG2 EXON Missense_V2849L exm28873 1 22172684 [T/C] NM_005529 HSPG2 EXON Missense_R2794Q exm28880 1 22172735 [T/C] NM_005529 HSPG2 EXON Missense_R2777Q exm28894 1 22173855 [T/C] NM_005529 HSPG2 EXON Missense_S2719N exm1763355 1 22173966 [T/C] NM_005529 HSPG2 EXON Missense_R2682Q exm28905 1 22173967 [A/G] NM_005529 HSPG2 EXON Missense_R2682W exm28911 1 22174253 [T/C] NM_005529 HSPG2 EXON Missense_V2652M exm28921 1 22174457 [A/G] NM_005529 HSPG2 EXON Missense_S2623P exm28924 1 22174498 [T/C] NM_005529 HSPG2 EXON Missense_R2609Q exm28929 1 22174549 [A/G] NM_005529 HSPG2 EXON Missense_P2592L exm28932 1 22175151 [T/G] NM_005529 HSPG2 EXON Missense_L2574F exm28935 1 22175439 [A/G] NM_005529 HSPG2 EXON Missense_T2511I exm28936 1 22175460 [T/C] NM_005529 HSPG2 EXON Missense_R2504H exm28944 1 22176536 [C/G] NM_005529 HSPG2 EXON Missense_Q2482E exm2273625 1 22176542 [A/G] NM_005529 HSPG2 EXON Missense_R2480W exm28953 1 22176643 [A/G] NM_005529 HSPG2 EXON Missense_S2446L exm28959 1 22176684 [A/T] NM_005529 HSPG2 EXON Synonymous_A2432A exm28966 1 22176915 [T/C] NM_005529 HSPG2 EXON Missense_S2412N exm29001 1 22179244 [T/C] NM_005529 HSPG2 EXON Missense_G2225S exm29032 1 22180830 [T/C] NM_005529 HSPG2 EXON Missense_G2099S exm29047 1 22181258 [A/G] NM_005529 HSPG2 EXON Missense_A2045V exm29071 1 22181895 [T/C] NM_005529 HSPG2 EXON Missense_V1967I exm29075 1 22182055 [T/C] NM_005529 HSPG2 EXON Missense_A1939T exm29077 1 22182093 [A/G] NM_005529 HSPG2 EXON Missense_T1926M exm29080 1 22182124 [T/C] NM_005529 HSPG2 EXON Missense_G1916S exm29088 1 22182333 [A/G] NM_005529 HSPG2 EXON Missense_A1883V exm29112 1 22183822 [A/G] NM_005529 HSPG2 EXON Missense_R1784C exm29114 1 22183837 [A/G] NM_005529 HSPG2 EXON Missense_R1779W exm29115 1 22183875 [A/G] NM_005529 HSPG2 EXON Missense_A1766V exm29117 1 22186113 [T/G] NM_005529 HSPG2 EXON Missense_T1747P exm29120 1 22186146 [T/C] NM_005529 HSPG2 EXON Missense_V1736I exm29122 1 22186161 [A/G] NM_005529 HSPG2 EXON Missense_L1731F exm29125 1 22186385 [A/G] NM_005529 HSPG2 EXON Missense_Y1709H exm29134 1 22186712 [T/C] NM_005529 HSPG2 EXON Missense_V1658M exm29138 1 22188289 [A/G] NM_005529 HSPG2 EXON Missense_T1639M exm29139 1 22188295 [T/C] NM_005529 HSPG2 EXON Missense_R1637H exm29140 1 22188296 [A/G] NM_005529 HSPG2 EXON Missense_R1637C exm29155 1 22190679 [T/C] NM_005529 HSPG2 EXON Missense_G1552R exm29160 1 22191361 [C/G] NM_005529 HSPG2 EXON Missense_P1534R exm29165 1 22191394 [T/C] NM_005529 HSPG2 EXON Missense_R1523H exm29170 1 22191454 [A/G] NM_005529 HSPG2 EXON Missense_A1503V exm29174 1 22191481 [T/C] NM_005529 HSPG2 EXON Missense_R1494Q exm2232538 1 22198729 [T/C] NM_005529 HSPG2 EXON Missense_G1391S exm29189 1 22198768 [T/C] NM_005529 HSPG2 EXON Missense_E1378K exm29192 1 22198822 [T/C] NM_005529 HSPG2 EXON Missense_N1360D exm29195 1 22199175 [C/G] NM_005529 HSPG2 EXON Missense_L1323V exm2232539 1 22199498 [T/G] NM_005529 HSPG2 EXON Missense_Q1294K exm29205 1 22199521 [T/C] NM_005529 HSPG2 EXON Missense_Q1286R exm29206 1 22199531 [T/C] NM_005529 HSPG2 EXON Missense_V1283I exm29215 1 22200454 [T/G] NM_005529 HSPG2 EXON Missense_A1236E exm29220 1 22200998 [T/C] NM_005529 HSPG2 EXON Missense_R1186Q exm29240 1 22202144 [T/C] NM_005529 HSPG2 EXON Missense_A1094T exm29242 1 22202155 [T/C] NM_005529 HSPG2 EXON Missense_R1090Q exm29252 1 22202483 [A/G] NM_005529 HSPG2 EXON Missense_P1019L exm29276 1 22203106 [T/C] NM_005529 HSPG2 EXON Missense_G909S exm29283 1 22204731 [T/C] NM_005529 HSPG2 EXON Missense_R878H exm29292 1 22204947 [T/C] NM_005529 HSPG2 EXON Missense_G866S exm2232540 1 22204974 [T/C] NM_005529 HSPG2 EXON Missense_G857R exm29294 1 22205079 [T/C] NM_005529 HSPG2 EXON Missense_R850H exm29301 1 22205523 [T/C] NM_005529 HSPG2 EXON Missense_R812Q exm29306 1 22205601 [T/C] NM_005529 HSPG2 EXON Missense_N786S exm29307 1 22206608 [A/G] NM_005529 HSPG2 EXON Missense_H779Y exm29308 1 22206617 [T/C] NM_005529 HSPG2 EXON Missense_V776M exm29312 1 22206649 [T/C] NM_005529 HSPG2 EXON Missense_N765S exm29322 1 22206977 [T/C] NM_005529 HSPG2 EXON Missense_V692M exm29324 1 22207013 [T/C] NM_005529 HSPG2 EXON Missense_A680T exm29325 1 22207027 [T/C] NM_005529 HSPG2 EXON Missense_R675Q exm29330 1 22207188 [T/G] NM_005529 HSPG2 EXON Missense_Q653H exm29334 1 22207235 [T/C] NM_005529 HSPG2 EXON Missense_M638V exm29344 1 22207318 [T/C] NM_005529 HSPG2 EXON Missense_Y610C exm29369 1 22211150 [A/G] NM_005529 HSPG2 EXON Missense_H509Y exm29389 1 22211623 [T/C] NM_005529 HSPG2 EXON Missense_R413Q exm29405 1 22211941 [T/G] NM_005529 HSPG2 EXON Missense_T361N exm29412 1 22213821 [A/G] NM_005529 HSPG2 EXON Missense_P322L exm29417 1 22213940 [C/G] NM_005529 HSPG2 EXON Missense_E311Q exm29419 1 22213993 [T/C] NM_005529 HSPG2 EXON Missense_R293H exm29428 1 22214082 [T/C] NM_005529 HSPG2 EXON Missense_M263I exm29429 1 22214101 [C/G] NM_005529 HSPG2 EXON Missense_R257P exm29435 1 22214436 [T/C] NM_005529 HSPG2 EXON Missense_N233S exm29441 1 22214535 [A/G] NM_005529 HSPG2 EXON Missense_T200M exm29442 1 22214536 [T/A] NM_005529 HSPG2 EXON Missense_T200S exm29469 1 22217095 [T/C] NM_005529 HSPG2 EXON Missense_E113K exm29479 1 22222455 [T/G] NM_005529 HSPG2 EXON Missense_D68E exm29481 1 22222718 [A/T] NM_005529 HSPG2 EXON Missense_H50L exm2260014 1 22252262 [A/G] NM_005529 HSPG2 Silent exm1763880 1 22304879 [T/C] NM_007352 CELA3B EXON Missense_P21S exm29496 1 22304889 [A/G] NM_007352 CELA3B EXON Missense_R24H exm29506 1 22307365 [T/G] NM_007352 CELA3B EXON Missense_G60C exm29516 1 22307538 [T/C] NM_007352 CELA3B EXON Missense_R79W exm29521 1 22307582 [T/G] NM_007352 CELA3B EXON Missense_K93N exm29555 1 22310711 [G/C] NM_007352 CELA3B EXON Missense_E177Q exm29579 1 22313075 [G/C] NM_007352 CELA3B EXON Missense_V232L exm2250790 1 22332005 [T/C] NM_005747 CELA3A EXON Synonymous_P65P exm29630 1 22332196 [T/G] NM_005747 CELA3A EXON Missense_L90R exm29662 1 22333884 [A/C] NM_005747 CELA3A EXON Missense_D173A exm29682 1 22336244 [A/G] NM_005747 CELA3A EXON Nonsense_W230X exm2232570 1 22336295 [T/C] NM_005747 CELA3A EXON Missense_I247T exm2268660 1 22368342 [T/C] exm29720 1 22446566 [C/G] NM_030761 WNT4 EXON Missense_V345L exm29736 1 22446798 [T/A] NM_030761 WNT4 EXON Missense_D267E exm29738 1 22446856 [T/C] NM_030761 WNT4 EXON Missense_R248H exm29741 1 22446860 [A/G] NM_030761 WNT4 EXON Missense_R247C exm29743 1 22446902 [T/C] NM_030761 WNT4 EXON Missense_A233T exm29754 1 22447940 [T/C] NM_030761 WNT4 EXON Missense_Q148R exm29771 1 22456184 [A/G] NM_030761 WNT4 EXON Missense_Y80H exm-rs16826658 1 22485871 [T/G] exm-rs7521902 1 22490724 [A/C] exm2250809 1 22537071 [T/C] exm-rs7524102 1 22698447 [A/G] exm-rs6696981 1 22702858 [T/G] exm-rs6426749 1 22711473 [G/C] exm-rs10917234 1 22782602 [A/G] NM_001083621,NM_014870 ZBTB40,ZBTB40 Silent,Silent exm29787 1 22816686 [T/A] NM_001083621,NM_014870 ZBTB40,ZBTB40 EXON Missense_K82I,Missense_K82I exm2250834 1 22817098 [A/G] NM_001083621,NM_014870 ZBTB40,ZBTB40 EXON Synonymous_V219V,Synonymous_V219V exm29802 1 22817114 [A/G] NM_001083621,NM_014870 ZBTB40,ZBTB40 EXON Missense_A225T,Missense_A225T exm29806 1 22817961 [A/G] NM_001083621,NM_014870 ZBTB40,ZBTB40 EXON Missense_M256V,Missense_M256V exm29808 1 22817996 [A/G] NM_001083621,NM_014870 ZBTB40,ZBTB40 EXON Missense_M267I,Missense_M267I exm29809 1 22827991 [A/G] NM_001083621,NM_014870 ZBTB40,ZBTB40 EXON Missense_V280M,Missense_V280M exm29818 1 22828154 [T/A] NM_001083621,NM_014870 ZBTB40,ZBTB40 EXON Missense_D334V,Missense_D334V exm29833 1 22834601 [A/G] NM_001083621,NM_014870 ZBTB40,ZBTB40 EXON Missense_M490V,Missense_M490V exm29842 1 22835642 [G/C] NM_001083621,NM_014870 ZBTB40,ZBTB40 EXON Missense_Q583H,Missense_Q583H exm29843 1 22835677 [A/G] NM_001083621,NM_014870 ZBTB40,ZBTB40 EXON Missense_Y595C,Missense_Y595C exm29860 1 22838442 [A/G] NM_001083621,NM_014870 ZBTB40,ZBTB40 EXON Missense_R759Q,Missense_R759Q exm29861 1 22838453 [A/G] NM_001083621,NM_014870 ZBTB40,ZBTB40 EXON Missense_S763G,Missense_S763G exm1766005 1 22838519 [C/G] NM_001083621,NM_014870 ZBTB40,ZBTB40 EXON Missense_Q785E,Missense_Q785E exm1766006 1 22838538 [T/C] NM_001083621,NM_014870 ZBTB40,ZBTB40 EXON Missense_A791V,Missense_A791V exm29867 1 22839498 [A/G] NM_001083621,NM_014870 ZBTB40,ZBTB40 EXON Missense_N848S,Missense_N848S exm29881 1 22846655 [T/C] NM_001083621,NM_014870 ZBTB40,ZBTB40 EXON Missense_P979S,Missense_P979S exm2232678 1 22846659 [A/G] NM_001083621,NM_014870 ZBTB40,ZBTB40 EXON Missense_C980Y,Missense_C980Y exm29885 1 22846709 [A/G] NM_001083621,NM_014870 ZBTB40,ZBTB40 EXON Missense_V997M,Missense_V997M exm29914 1 22852880 [C/G] NM_001083621,NM_014870 ZBTB40,ZBTB40 EXON Missense_E1237D,Missense_E1237D exm29921 1 22895820 [A/G] NM_020526,NM_001006943 EPHA8,EPHA8 EXON Missense_G45S,Missense_G45S exm2232712 1 22902710 [T/G] NM_020526,NM_001006943 EPHA8,EPHA8 EXON Missense_W54G,Missense_W54G exm2232713 1 22903034 [T/C] NM_020526,NM_001006943 EPHA8,EPHA8 EXON Missense_R162W,Missense_R162W exm29948 1 22903176 [A/G] NM_020526,NM_001006943 EPHA8,EPHA8 EXON Missense_R209H,Missense_R209H exm29956 1 22903356 [A/G] NM_020526,NM_001006943 EPHA8,EPHA8 EXON Missense_R269Q,Missense_R269Q exm29963 1 22913051 [T/C] NM_020526,NM_001006943 EPHA8,EPHA8 EXON Missense_A301V,Missense_A301V exm29964 1 22913111 [T/C] NM_020526,NM_001006943 EPHA8,EPHA8 EXON Missense_P321L,Missense_P321L exm29974 1 22915508 [A/G] NM_020526,NM_001006943 EPHA8,EPHA8 EXON Missense_R375H,Missense_R375H exm29980 1 22915678 [A/G] NM_020526,NM_001006943 EPHA8,EPHA8 EXON Missense_N432D,Missense_N432D exm29984 1 22915721 [T/C] NM_020526,NM_001006943 EPHA8,EPHA8 EXON Silent,Missense_P446L exm29987 1 22915753 [T/C] NM_020526,NM_001006943 EPHA8,EPHA8 EXON Silent,Missense_S457P exm29990 1 22915816 [T/C] NM_020526,NM_001006943 EPHA8,EPHA8 EXON Silent,Missense_L478F exm29993 1 22915858 [T/C] NM_020526,NM_001006943 EPHA8,EPHA8 EXON Silent,Missense_L492F exm30009 1 22920141 [A/G] NM_020526 EPHA8 EXON Missense_R522H exm30010 1 22920150 [A/G] NM_020526 EPHA8 EXON Missense_Q525R exm30017 1 22921729 [A/G] NM_020526 EPHA8 EXON Missense_R537H exm30020 1 22921794 [T/C] NM_020526 EPHA8 EXON Missense_L559F exm30030 1 22923859 [A/C] NM_020526 EPHA8 EXON Missense_P607H exm30033 1 22923873 [G/C] NM_020526 EPHA8 EXON Missense_E612Q exm30052 1 22924646 [T/C] NM_020526 EPHA8 EXON Missense_R707C exm30074 1 22927154 [A/G] NM_020526 EPHA8 EXON Missense_G797S exm30080 1 22927241 [A/G] NM_020526 EPHA8 EXON Missense_V826M exm30082 1 22927274 [T/C] NM_020526 EPHA8 EXON Missense_R837W exm30083 1 22927275 [A/G] NM_020526 EPHA8 EXON Missense_R837Q exm30098 1 22927503 [A/G] NM_020526 EPHA8 EXON Missense_R884H exm30099 1 22927533 [T/C] NM_020526 EPHA8 EXON Missense_A894V exm30100 1 22927541 [T/C] NM_020526 EPHA8 EXON Missense_R897C exm30103 1 22927801 [T/C] NM_020526 EPHA8 EXON Missense_P913L exm30107 1 22927834 [A/G] NM_020526 EPHA8 EXON Missense_R924Q exm1766558 1 22927836 [A/G] NM_020526 EPHA8 EXON Missense_G925R exm30114 1 22927906 [A/G] NM_020526 EPHA8 EXON Missense_R948Q exm30115 1 22927954 [A/G] NM_020526 EPHA8 EXON Missense_R964H exm30116 1 22928124 [A/G] NM_020526 EPHA8 EXON Missense_V970M exm30118 1 22928130 [A/G] NM_020526 EPHA8 EXON Missense_A972T exm30122 1 22928191 [A/G] NM_020526 EPHA8 EXON Missense_R992Q exm30130 1 22964120 [C/G] NM_015991 C1QA EXON Missense_P4R exm30132 1 22964176 [A/G] NM_015991 C1QA EXON Missense_E23K exm30134 1 22964189 [A/G] NM_015991 C1QA EXON Missense_R27Q exm30141 1 22965457 [A/C] NM_015991 C1QA EXON Missense_I99L exm30144 1 22965538 [A/G] NM_015991 C1QA EXON Missense_M126V exm30152 1 22965659 [T/C] NM_015991 C1QA EXON Missense_L166P exm30156 1 22965743 [A/C] NM_015991 C1QA EXON Missense_N194T exm30171 1 22970616 [A/G] NM_001114101,NM_172369 C1QC,C1QC EXON Missense_G34R,Missense_G34R exm30177 1 22973770 [T/C] NM_001114101,NM_172369 C1QC,C1QC EXON Missense_P78S,Missense_P78S exm30193 1 22973962 [A/G] NM_001114101,NM_172369 C1QC,C1QC EXON Missense_A142T,Missense_A142T exm30203 1 22974097 [A/G] NM_001114101,NM_172369 C1QC,C1QC EXON Missense_V187I,Missense_V187I exm30222 1 22987340 [A/G] NM_000491 C1QB EXON Missense_G75R exm1767006 1 22987511 [A/G] NM_000491 C1QB EXON Missense_V132I exm30233 1 22987523 [T/C] NM_000491 C1QB EXON Missense_R136W exm30249 1 22987724 [T/A] NM_000491 C1QB EXON Missense_N203Y exm30269 1 23107943 [A/G] NM_004442,NM_017449 EPHB2,EPHB2 EXON Missense_A31T,Missense_A31T exm30274 1 23110997 [A/G] NM_004442,NM_017449 EPHB2,EPHB2 EXON Missense_R80H,Missense_R80H exm30286 1 23111354 [A/G] NM_004442,NM_017449 EPHB2,EPHB2 EXON Missense_R199H,Missense_R199H exm2268662 1 23168961 [T/C] NM_004442,NM_017449 EPHB2,EPHB2 Silent,Silent exm30301 1 23189553 [T/G] NM_004442,NM_017449 EPHB2,EPHB2 EXON Missense_A279S,Missense_A279S exm30302 1 23189565 [G/C] NM_004442,NM_017449 EPHB2,EPHB2 EXON Missense_D283H,Missense_D283H exm30316 1 23191483 [A/G] NM_004442,NM_017449 EPHB2,EPHB2 EXON Missense_I361V,Missense_I361V exm30317 1 23191502 [T/C] NM_004442,NM_017449 EPHB2,EPHB2 EXON Missense_S367L,Missense_S367L exm30319 1 23191508 [A/G] NM_004442,NM_017449 EPHB2,EPHB2 EXON Missense_R369Q,Missense_R369Q exm2268870 1 23198619 [T/G] NM_004442,NM_017449 EPHB2,EPHB2 Silent,Silent exm30333 1 23208887 [T/C] NM_004442,NM_017449 EPHB2,EPHB2 EXON Missense_R447C,Missense_R447C exm30340 1 23219377 [A/G] NM_004442,NM_017449 EPHB2,EPHB2 EXON Missense_E477K,Missense_E477K exm30343 1 23219431 [A/G] NM_004442,NM_017449 EPHB2,EPHB2 EXON Missense_V495M,Missense_V495M exm30355 1 23222908 [T/C] NM_004442,NM_017449 EPHB2,EPHB2 EXON Missense_R569W,Missense_R568W exm1768105 1 23232567 [A/T] NM_004442,NM_017449 EPHB2,EPHB2 EXON Missense_I619N,Missense_I618N exm30372 1 23233263 [T/C] NM_004442,NM_017449 EPHB2,EPHB2 EXON Missense_V651A,Missense_V650A exm30382 1 23234569 [A/G] NM_004442,NM_017449 EPHB2,EPHB2 EXON Missense_V755I,Missense_V754I exm2273319 1 23240250 [T/A] NM_004442,NM_017449 EPHB2,EPHB2 EXON Silent,Silent exm2250884 1 23380259 [A/G] NM_001009999,NM_015013 KDM1A,KDM1A EXON Synonymous_Q239Q,Synonymous_Q219Q exm30500 1 23415426 [A/G] NM_001142546,NM_033631 LUZP1,LUZP1 EXON Nonsense_R1065X,Nonsense_R1065X exm30501 1 23415438 [A/G] NM_001142546,NM_033631 LUZP1,LUZP1 EXON Missense_R1061W,Missense_R1061W exm30506 1 23415518 [T/C] NM_001142546,NM_033631 LUZP1,LUZP1 EXON Missense_S1034N,Missense_S1034N exm1768688 1 23415545 [T/G] NM_001142546,NM_033631 LUZP1,LUZP1 EXON Missense_E1025A,Missense_E1025A exm30509 1 23417732 [T/C] NM_001142546,NM_033631 LUZP1,LUZP1 EXON Missense_R1008Q,Missense_R1008Q exm30510 1 23417738 [T/C] NM_001142546,NM_033631 LUZP1,LUZP1 EXON Missense_R1006Q,Missense_R1006Q exm30511 1 23417739 [A/G] NM_001142546,NM_033631 LUZP1,LUZP1 EXON Missense_R1006W,Missense_R1006W exm30512 1 23417742 [A/G] NM_001142546,NM_033631 LUZP1,LUZP1 EXON Missense_R1005C,Missense_R1005C exm30518 1 23417894 [T/C] NM_001142546,NM_033631 LUZP1,LUZP1 EXON Missense_Q954R,Missense_Q954R exm30527 1 23417994 [A/G] NM_001142546,NM_033631 LUZP1,LUZP1 EXON Missense_R921W,Missense_R921W exm30532 1 23418068 [A/G] NM_001142546,NM_033631 LUZP1,LUZP1 EXON Missense_A896V,Missense_A896V exm30535 1 23418128 [T/C] NM_001142546,NM_033631 LUZP1,LUZP1 EXON Missense_R876Q,Missense_R876Q exm30536 1 23418153 [T/C] NM_001142546,NM_033631 LUZP1,LUZP1 EXON Missense_D868N,Missense_D868N exm30551 1 23418576 [T/C] NM_001142546,NM_033631 LUZP1,LUZP1 EXON Missense_T727A,Missense_T727A exm30559 1 23418803 [G/C] NM_001142546,NM_033631 LUZP1,LUZP1 EXON Missense_S651C,Missense_S651C exm30562 1 23418835 [T/C] NM_001142546,NM_033631 LUZP1,LUZP1 EXON Synonymous_P640P,Synonymous_P640P exm30568 1 23418998 [T/C] NM_001142546,NM_033631 LUZP1,LUZP1 EXON Missense_N586S,Missense_N586S exm30571 1 23419058 [T/G] NM_001142546,NM_033631 LUZP1,LUZP1 EXON Missense_A566D,Missense_A566D exm30580 1 23419283 [A/G] NM_001142546,NM_033631 LUZP1,LUZP1 EXON Missense_T491I,Missense_T491I exm30585 1 23419368 [T/C] NM_001142546,NM_033631 LUZP1,LUZP1 EXON Missense_E463K,Missense_E463K exm30586 1 23419374 [T/G] NM_001142546,NM_033631 LUZP1,LUZP1 EXON Missense_Q461K,Missense_Q461K exm30587 1 23419383 [T/C] NM_001142546,NM_033631 LUZP1,LUZP1 EXON Missense_G458S,Missense_G458S exm30590 1 23419436 [T/C] NM_001142546,NM_033631 LUZP1,LUZP1 EXON Missense_S440N,Missense_S440N exm30603 1 23419737 [G/C] NM_001142546,NM_033631 LUZP1,LUZP1 EXON Missense_L340V,Missense_L340V exm30604 1 23419794 [T/C] NM_001142546,NM_033631 LUZP1,LUZP1 EXON Missense_D321N,Missense_D321N exm30605 1 23419806 [A/C] NM_001142546,NM_033631 LUZP1,LUZP1 EXON Missense_S317A,Missense_S317A exm30607 1 23419914 [A/G] NM_001142546,NM_033631 LUZP1,LUZP1 EXON Missense_R281C,Missense_R281C exm30611 1 23419985 [T/C] NM_001142546,NM_033631 LUZP1,LUZP1 EXON Missense_R257K,Missense_R257K exm2232786 1 23420481 [A/T] NM_001142546,NM_033631 LUZP1,LUZP1 EXON Missense_M92L,Missense_M92L exm30625 1 23420637 [T/C] NM_001142546,NM_033631 LUZP1,LUZP1 EXON Missense_A40T,Missense_A40T exm30626 1 23420650 [T/G] NM_001142546,NM_033631 LUZP1,LUZP1 EXON Missense_K35N,Missense_K35N exm30636 1 23519593 [A/G] NM_000864 HTR1D EXON Missense_R374W exm30645 1 23519851 [A/G] NM_000864 HTR1D EXON Missense_R288C exm30650 1 23519919 [A/G] NM_000864 HTR1D EXON Missense_S265L exm30651 1 23519930 [A/C] NM_000864 HTR1D EXON Missense_H261Q exm30659 1 23520000 [T/C] NM_000864 HTR1D EXON Missense_R238H exm30668 1 23520111 [T/G] NM_000864 HTR1D EXON Missense_S201Y exm1768869 1 23520235 [T/C] NM_000864 HTR1D EXON Missense_A160T exm30675 1 23520243 [A/G] NM_000864 HTR1D EXON Missense_T157I exm30677 1 23520259 [A/C] NM_000864 HTR1D EXON Missense_A152S exm30686 1 23520424 [T/C] NM_000864 HTR1D EXON Missense_A97T exm-rs1738475 1 23536891 [G/C] exm2268663 1 23537555 [T/C] exm-rs2749146 1 23582880 [T/C] exm30701 1 23637261 [T/A] NM_001102398,NM_001102399,NM_001102397,NM_005826 HNRNPR,HNRNPR,HNRNPR,HNRNPR EXON Missense_S533T,Missense_S432T,Missense_S429T,Missense_S530T exm30708 1 23637513 [T/C] NM_001102398,NM_001102399,NM_001102397,NM_005826 HNRNPR,HNRNPR,HNRNPR,HNRNPR EXON Missense_I449V,Missense_I348V,Missense_I345V,Missense_I446V exm30722 1 23648027 [T/C] NM_001102398,NM_001102399,NM_001102397,NM_005826 HNRNPR,HNRNPR,HNRNPR,HNRNPR EXON Missense_V269I,Missense_V168I,Missense_V168I,Missense_V269I exm30746 1 23688470 [T/C] NM_001077195,NM_030634 ZNF436,ZNF436 EXON Missense_T469A,Missense_T469A exm30774 1 23689458 [T/C] NM_001077195,NM_030634 ZNF436,ZNF436 EXON Missense_I139M,Missense_I139M exm30776 1 23689580 [T/C] NM_001077195,NM_030634 ZNF436,ZNF436 EXON Missense_G99R,Missense_G99R exm30781 1 23689657 [A/G] NM_001077195,NM_030634 ZNF436,ZNF436 EXON Missense_V73A,Missense_V73A exm30827 1 23720422 [T/C] NM_003196 TCEA3 EXON Missense_V257M exm2260051 1 23731819 [A/G] NM_003196 TCEA3 Silent exm30846 1 23743751 [C/G] NM_003196 TCEA3 EXON Missense_P124R exm30847 1 23743761 [A/G] NM_003196 TCEA3 EXON Nonsense_R121X exm30848 1 23743767 [A/T] NM_003196 TCEA3 EXON Nonsense_K119X exm30856 1 23743859 [T/C] NM_003196 TCEA3 EXON Missense_E88G exm30864 1 23751126 [A/T] NM_003196 TCEA3 EXON Missense_M1L exm30867 1 23756350 [T/C] NM_017707,NM_001143778 ASAP3,ASAP3 EXON Missense_X904W,Missense_X895W exm30868 1 23756359 [A/G] NM_017707,NM_001143778 ASAP3,ASAP3 EXON Missense_L901S,Missense_L892S exm30870 1 23756377 [T/G] NM_017707,NM_001143778 ASAP3,ASAP3 EXON Missense_A895E,Missense_A886E exm30871 1 23756417 [T/C] NM_017707,NM_001143778 ASAP3,ASAP3 EXON Missense_I882V,Missense_I873V exm30873 1 23757529 [A/G] NM_017707,NM_001143778 ASAP3,ASAP3 EXON Missense_P879L,Missense_P870L exm30878 1 23757593 [A/G] NM_017707,NM_001143778 ASAP3,ASAP3 EXON Missense_R858W,Missense_R849W exm30880 1 23757596 [A/G] NM_017707,NM_001143778 ASAP3,ASAP3 EXON Missense_R857W,Missense_R848W exm30887 1 23758267 [T/C] NM_017707,NM_001143778 ASAP3,ASAP3 EXON Missense_R823Q,Missense_R814Q exm30898 1 23759594 [T/C] NM_017707,NM_001143778 ASAP3,ASAP3 EXON Missense_G767R,Missense_G758R exm30899 1 23759609 [A/G] NM_017707,NM_001143778 ASAP3,ASAP3 EXON Missense_R762W,Missense_R753W exm30902 1 23759654 [T/C] NM_017707,NM_001143778 ASAP3,ASAP3 EXON Missense_E747K,Missense_E738K exm1769822 1 23759714 [C/G] NM_017707,NM_001143778 ASAP3,ASAP3 EXON Missense_D727H,Missense_D718H exm30904 1 23759743 [T/G] NM_017707,NM_001143778 ASAP3,ASAP3 EXON Missense_A717D,Missense_A708D exm1769825 1 23760011 [G/C] NM_017707,NM_001143778 ASAP3,ASAP3 EXON Missense_Q678H,Missense_Q669H exm30909 1 23760013 [T/G] NM_017707,NM_001143778 ASAP3,ASAP3 EXON Missense_Q678K,Missense_Q669K exm30910 1 23760133 [T/C] NM_017707,NM_001143778 ASAP3,ASAP3 EXON Missense_E669K,Missense_E660K exm30911 1 23760157 [T/C] NM_017707,NM_001143778 ASAP3,ASAP3 EXON Missense_I661V,Missense_I652V exm30924 1 23761026 [C/G] NM_017707,NM_001143778 ASAP3,ASAP3 EXON Missense_G612A,Missense_G603A exm30925 1 23761027 [T/C] NM_017707,NM_001143778 ASAP3,ASAP3 EXON Missense_G612S,Missense_G603S exm30931 1 23761077 [T/G] NM_017707,NM_001143778 ASAP3,ASAP3 EXON Missense_K595T,Missense_K586T exm30941 1 23762428 [A/C] NM_017707,NM_001143778 ASAP3,ASAP3 EXON Missense_I555M,Missense_I546M exm30955 1 23763676 [A/G] NM_017707,NM_001143778 ASAP3,ASAP3 EXON Missense_A430V,Missense_A421V exm30959 1 23763767 [T/C] NM_017707,NM_001143778 ASAP3,ASAP3 EXON Missense_A400T,Missense_A391T exm30961 1 23763938 [T/G] NM_017707,NM_001143778 ASAP3,ASAP3 EXON Missense_E377A,Missense_E368A exm30962 1 23765240 [A/G] NM_017707,NM_001143778 ASAP3,ASAP3 EXON Missense_H368Y,Missense_H359Y exm-rs1077514 1 23766233 [T/C] NM_017707,NM_001143778 ASAP3,ASAP3 Silent,Silent exm30981 1 23767921 [A/G] NM_017707,NM_001143778 ASAP3,ASAP3 EXON Missense_R265W,Missense_R256W exm30983 1 23768174 [T/C] NM_017707,NM_001143778 ASAP3,ASAP3 EXON Missense_E241K,Missense_E232K exm30987 1 23768696 [T/G] NM_017707,NM_001143778 ASAP3,ASAP3 EXON Missense_F218L,Missense_F209L exm30990 1 23768748 [T/C] NM_017707,NM_001143778 ASAP3,ASAP3 EXON Missense_G201E,Missense_G192E exm30994 1 23769004 [T/G] NM_017707,NM_001143778 ASAP3,ASAP3 EXON Missense_H192P,Missense_H183P exm31000 1 23779190 [T/C] NM_017707,NM_001143778 ASAP3,ASAP3 EXON Synonymous_Q141Q,Synonymous_Q141Q exm31007 1 23779253 [C/G] NM_017707,NM_001143778 ASAP3,ASAP3 EXON Missense_L120F,Missense_L120F exm31017 1 23782519 [T/C] NM_017707,NM_001143778 ASAP3,ASAP3 EXON Missense_G68D,Missense_G68D exm31029 1 23836407 [T/C] NM_004091 E2F2 EXON Missense_D427N exm31032 1 23836478 [A/C] NM_004091 E2F2 EXON Missense_F403C exm31044 1 23842860 [T/C] NM_004091 E2F2 EXON Missense_D338N exm31047 1 23842939 [T/G] NM_004091 E2F2 EXON Missense_D311E exm31052 1 23845566 [A/G] NM_004091 E2F2 EXON Missense_T265I exm31057 1 23847464 [A/C] NM_004091 E2F2 EXON Missense_Q226H exm31060 1 23847529 [T/C] NM_004091 E2F2 EXON Missense_G205R exm31061 1 23847534 [A/C] NM_004091 E2F2 EXON Missense_R203I exm31062 1 23847537 [A/G] NM_004091 E2F2 EXON Missense_T202I exm31085 1 23857189 [T/C] NM_004091 E2F2 EXON Missense_S33G exm31086 1 23857247 [A/C] NM_004091 E2F2 EXON Synonymous_G13G exm31087 1 23857249 [G/C] NM_004091 E2F2 EXON Missense_G13R exm31094 1 23885480 [A/C] NM_002167 ID3 EXON Missense_S111A exm31097 1 23885498 [T/C] NM_002167 ID3 EXON Missense_T105A exm31106 1 23885662 [C/G] NM_002167 ID3 EXON Missense_E86Q exm31115 1 23885773 [T/A] NM_002167 ID3 EXON Missense_S49T exm31123 1 23885835 [T/C] NM_002167 ID3 EXON Missense_R28Q exm2268664 1 23945443 [T/C] exm31220 1 24022915 [A/G] NM_000975,NM_001199802 RPL11,RPL11 EXON Silent,Silent exm31237 1 24077388 [A/C] NM_003198 TCEB3 EXON Missense_P124H exm31238 1 24077390 [T/C] NM_003198 TCEB3 EXON Missense_R125W exm31239 1 24077391 [A/G] NM_003198 TCEB3 EXON Missense_R125Q exm31243 1 24077451 [T/C] NM_003198 TCEB3 EXON Missense_T145M exm31244 1 24077460 [A/G] NM_003198 TCEB3 EXON Missense_R148Q exm2232870 1 24077469 [A/G] NM_003198 TCEB3 EXON Missense_S151N exm31270 1 24077853 [A/G] NM_003198 TCEB3 EXON Missense_R279H exm31272 1 24077943 [T/C] NM_003198 TCEB3 EXON Missense_P309L exm31274 1 24077957 [A/G] NM_003198 TCEB3 EXON Missense_N314D exm31277 1 24077987 [A/G] NM_003198 TCEB3 EXON Missense_V324I exm31278 1 24077994 [A/G] NM_003198 TCEB3 EXON Missense_K326R exm31281 1 24078234 [T/C] NM_003198 TCEB3 EXON Missense_L406S exm31283 1 24078372 [T/C] NM_003198 TCEB3 EXON Missense_T452I exm31295 1 24078940 [T/C] NM_003198 TCEB3 EXON Missense_A516V exm31299 1 24080617 [A/C] NM_003198 TCEB3 EXON Missense_E548A exm31302 1 24080742 [A/G] NM_003198 TCEB3 EXON Missense_D590N exm31308 1 24082334 [T/C] NM_003198 TCEB3 EXON Missense_V624A exm31313 1 24082402 [A/G] NM_003198 TCEB3 EXON Missense_E647K exm31317 1 24082466 [A/G] NM_003198 TCEB3 EXON Missense_R668Q exm31320 1 24082853 [A/G] NM_003198 TCEB3 EXON Missense_A714T exm31322 1 24083471 [A/G] NM_003198 TCEB3 EXON Missense_S731G exm31334 1 24083609 [G/C] NM_003198 TCEB3 EXON Missense_V777L exm31357 1 24112236 [A/G] NM_020362 PITHD1 EXON Missense_R131Q exm31426 1 24122673 [T/C] NM_001127621,NM_001008216,NM_000403 GALE,GALE,GALE EXON Missense_G319E,Missense_G319E,Missense_G319E exm31445 1 24123212 [T/C] NM_001127621,NM_001008216,NM_000403 GALE,GALE,GALE EXON Missense_K257R,Missense_K257R,Missense_K257R exm31460 1 24123555 [A/G] NM_001127621,NM_001008216,NM_000403 GALE,GALE,GALE EXON Missense_I204T,Missense_I204T,Missense_I204T exm31480 1 24124692 [A/G] NM_001127621,NM_001008216,NM_000403 GALE,GALE,GALE EXON Missense_A89V,Missense_A89V,Missense_A89V exm31484 1 24125170 [A/G] NM_001127621,NM_001008216,NM_000403 GALE,GALE,GALE EXON Missense_R58C,Missense_R58C,Missense_R58C exm31487 1 24125380 [A/G] NM_001127621,NM_001008216,NM_000403 GALE,GALE,GALE EXON Missense_R40C,Missense_R40C,Missense_R40C exm31525 1 24140734 [T/C] NM_001166059,NM_000191 HMGCL,HMGCL EXON Silent,Missense_Q148R exm1770777 1 24143165 [T/C] NM_001166059,NM_000191 HMGCL,HMGCL EXON Synonymous_A116A,Synonymous_A116A exm1770778 1 24143173 [T/C] NM_001166059,NM_000191 HMGCL,HMGCL EXON Missense_E114K,Missense_E114K exm2232878 1 24143974 [T/C] NM_001166059,NM_000191 HMGCL,HMGCL EXON Missense_V82I,Missense_V82I exm31533 1 24144036 [T/C] NM_001166059,NM_000191 HMGCL,HMGCL EXON Missense_D61G,Missense_D61G exm31534 1 24144067 [T/C] NM_001166059,NM_000191 HMGCL,HMGCL EXON Missense_V51I,Missense_V51I exm2250937 1 24151858 [T/C] NM_001166059,NM_000191 HMGCL,HMGCL EXON Synonymous_A16A,Synonymous_A16A exm31549 1 24172332 [T/C] NM_000147 FUCA1 EXON Missense_G425E exm31554 1 24175151 [A/G] NM_000147 FUCA1 EXON Missense_T383I exm31556 1 24175172 [T/C] NM_000147 FUCA1 EXON Missense_R376Q exm31570 1 24180962 [T/C] NM_000147 FUCA1 EXON Missense_Q286R exm31573 1 24181041 [T/C] NM_000147 FUCA1 EXON Missense_V260I exm31586 1 24192068 [A/G] NM_000147 FUCA1 EXON Missense_P146L exm31587 1 24192072 [A/G] NM_000147 FUCA1 EXON Missense_W145R exm31589 1 24192103 [G/C] NM_000147 FUCA1 EXON Missense_L134F exm31606 1 24194773 [A/G] NM_000147 FUCA1 EXON Missense_R2W exm31614 1 24201065 [A/G] NM_001841 CNR2 EXON Missense_P348L exm31617 1 24201095 [A/G] NM_001841 CNR2 EXON Missense_T338I exm31621 1 24201162 [A/G] NM_001841 CNR2 EXON Missense_H316Y exm31627 1 24201269 [A/G] NM_001841 CNR2 EXON Missense_A280V exm31636 1 24201402 [A/G] NM_001841 CNR2 EXON Nonsense_R236X exm31641 1 24201513 [T/C] NM_001841 CNR2 EXON Missense_A199T exm31650 1 24201711 [T/G] NM_001841 CNR2 EXON Missense_L133I exm31651 1 24201716 [T/C] NM_001841 CNR2 EXON Missense_R131Q exm31652 1 24201717 [A/G] NM_001841 CNR2 EXON Nonsense_R131X exm31657 1 24201779 [A/G] NM_001841 CNR2 EXON Missense_I110T exm31665 1 24201911 [T/C] NM_001841 CNR2 EXON Missense_R66Q exm31668 1 24201920 [T/C] NM_001841 CNR2 EXON Missense_Q63R exm31671 1 24202019 [T/C] NM_001841 CNR2 EXON Missense_G30D exm31689 1 24383873 [T/C] NM_152372 MYOM3 EXON Missense_K1432R exm31693 1 24383918 [A/G] NM_152372 MYOM3 EXON Missense_T1417M exm31697 1 24383958 [A/G] NM_152372 MYOM3 EXON Missense_R1404C exm31698 1 24383994 [T/C] NM_152372 MYOM3 EXON Missense_I1392V exm31699 1 24384031 [T/G] NM_152372 MYOM3 EXON Missense_D1379E exm31701 1 24384114 [T/G] NM_152372 MYOM3 EXON Missense_L1352M exm31716 1 24388465 [T/C] NM_152372 MYOM3 EXON Missense_R1302Q exm31722 1 24388564 [A/G] NM_152372 MYOM3 EXON Missense_T1269M exm31726 1 24388592 [A/G] NM_152372 MYOM3 EXON Missense_R1260C exm31731 1 24389694 [T/C] NM_152372 MYOM3 EXON Missense_G1231E exm1771420 1 24390000 [T/C] NM_152372 MYOM3 EXON Missense_E1215K exm1771422 1 24390604 [T/C] NM_152372 MYOM3 EXON Missense_D1194N exm31758 1 24393563 [T/C] NM_152372 MYOM3 EXON Missense_R1124Q exm31759 1 24393564 [A/G] NM_152372 MYOM3 EXON Missense_R1124W exm31765 1 24394714 [A/G] NM_152372 MYOM3 EXON Synonymous_D1098D exm31769 1 24394770 [T/C] NM_152372 MYOM3 EXON Missense_A1080T exm31770 1 24394811 [A/G] NM_152372 MYOM3 EXON Missense_I1066T exm31771 1 24394835 [C/G] NM_152372 MYOM3 EXON Missense_R1058P exm31776 1 24397636 [A/G] NM_152372 MYOM3 EXON Missense_F1041L exm31783 1 24400656 [T/C] NM_152372 MYOM3 EXON Missense_E988K exm31797 1 24401926 [A/G] NM_152372 MYOM3 EXON Missense_F914S exm31799 1 24401933 [T/C] NM_152372 MYOM3 EXON Missense_E912K exm2250953 1 24401961 [C/G] NM_152372 MYOM3 EXON Synonymous_A902A exm31802 1 24402675 [T/G] NM_152372 MYOM3 EXON Missense_D892A exm31811 1 24406535 [A/G] NM_152372 MYOM3 EXON Missense_P853S exm31815 1 24406608 [T/C] NM_152372 MYOM3 EXON Missense_M828I exm-rs4649175 1 24406647 [A/G] NM_152372 MYOM3 EXON Synonymous_A815A exm31818 1 24406652 [A/G] NM_152372 MYOM3 EXON Missense_R814W exm31824 1 24407870 [A/G] NM_152372 MYOM3 EXON Missense_S786L exm31825 1 24407903 [T/C] NM_152372 MYOM3 EXON Missense_R775Q exm31831 1 24408594 [T/C] NM_152372 MYOM3 EXON Missense_R726H exm31833 1 24408598 [A/G] NM_152372 MYOM3 EXON Missense_R725C exm31846 1 24409181 [G/C] NM_152372 MYOM3 EXON Missense_T665R exm31849 1 24409191 [T/C] NM_152372 MYOM3 EXON Missense_G662R exm31856 1 24411054 [A/G] NM_152372 MYOM3 EXON Missense_V625A exm31857 1 24411058 [T/G] NM_152372 MYOM3 EXON Missense_P624T exm31876 1 24416059 [T/C] NM_152372 MYOM3 EXON Missense_D528G exm31877 1 24416062 [T/C] NM_152372 MYOM3 EXON Missense_R527Q exm1771510 1 24416104 [T/C] NM_152372 MYOM3 EXON Missense_R513Q exm31882 1 24416117 [T/C] NM_152372 MYOM3 EXON Missense_A509T exm31889 1 24416564 [T/C] NM_152372 MYOM3 EXON Missense_A493T exm31895 1 24417350 [T/C] NM_152372 MYOM3 EXON Missense_V457I exm31899 1 24417383 [A/G] NM_152372 MYOM3 EXON Missense_R446W exm31900 1 24417388 [T/C] NM_152372 MYOM3 EXON Missense_R444Q exm31904 1 24417415 [T/C] NM_152372 MYOM3 EXON Missense_Q435R exm31905 1 24417419 [T/C] NM_152372 MYOM3 EXON Missense_I434V exm31922 1 24418758 [A/G] NM_152372 MYOM3 EXON Nonsense_R380X exm31926 1 24418794 [T/C] NM_152372 MYOM3 EXON Missense_E368K exm31927 1 24418800 [T/C] NM_152372 MYOM3 EXON Missense_E366K exm31932 1 24419473 [T/C] NM_152372 MYOM3 EXON Missense_G352R exm31938 1 24419496 [A/G] NM_152372 MYOM3 EXON Missense_M344T exm31942 1 24419556 [A/G] NM_152372 MYOM3 EXON Missense_T324I exm1771550 1 24419574 [T/C] NM_152372 MYOM3 EXON Missense_R318H exm31948 1 24421387 [A/G] NM_152372 MYOM3 EXON Missense_S295L exm31949 1 24421405 [G/C] NM_152372 MYOM3 EXON Missense_S289C exm31954 1 24421474 [A/G] NM_152372 MYOM3 EXON Missense_T266M exm31956 1 24421950 [C/G] NM_152372 MYOM3 EXON Missense_D258H exm31960 1 24424416 [A/G] NM_152372 MYOM3 EXON Missense_R248C exm31968 1 24426249 [A/G] NM_152372 MYOM3 EXON Missense_R193W exm31978 1 24432519 [T/C] NM_152372 MYOM3 EXON Missense_G151S exm31980 1 24432539 [T/A] NM_152372 MYOM3 EXON Missense_E144V exm31981 1 24432540 [A/C] NM_152372 MYOM3 EXON Nonsense_E144X exm1771595 1 24433570 [G/C] NM_152372 MYOM3 EXON Missense_R132T exm2232908 1 24433576 [A/G] NM_152372 MYOM3 EXON Missense_T130M exm31990 1 24433652 [T/C] NM_152372 MYOM3 EXON Missense_G105S exm31995 1 24433697 [A/T] NM_152372 MYOM3 EXON Missense_S90T exm2232909 1 24433706 [A/G] NM_152372 MYOM3 EXON Missense_R87C exm32000 1 24434510 [A/G] NM_152372 MYOM3 EXON Missense_A72V exm32001 1 24434519 [C/G] NM_152372 MYOM3 EXON Missense_A69G exm32003 1 24434537 [T/G] NM_152372 MYOM3 EXON Missense_A63E exm32007 1 24434559 [T/C] NM_152372 MYOM3 EXON Missense_E56K exm32008 1 24434562 [T/C] NM_152372 MYOM3 EXON Missense_E55K exm32025 1 24447468 [C/G] NM_021258 IL22RA1 EXON Missense_R518G exm1771625 1 24447657 [T/C] NM_021258 IL22RA1 EXON Missense_M455V exm32035 1 24447707 [T/C] NM_021258 IL22RA1 EXON Missense_G438E exm1771626 1 24447716 [C/G] NM_021258 IL22RA1 EXON Missense_P435R exm32039 1 24447801 [T/C] NM_021258 IL22RA1 EXON Missense_M407V exm32044 1 24447867 [T/C] NM_021258 IL22RA1 EXON Missense_V385I exm32063 1 24448149 [T/C] NM_021258 IL22RA1 EXON Missense_G291S exm32070 1 24448224 [T/C] NM_021258 IL22RA1 EXON Missense_V266I exm32074 1 24449814 [A/G] NM_021258 IL22RA1 EXON Missense_P257L exm32076 1 24449854 [T/C] NM_021258 IL22RA1 EXON Missense_A244T exm32081 1 24454636 [A/G] NM_021258 IL22RA1 EXON Missense_L222P exm32083 1 24454676 [A/C] NM_021258 IL22RA1 EXON Missense_A209S exm32084 1 24454688 [T/C] NM_021258 IL22RA1 EXON Missense_V205I exm32087 1 24460714 [T/C] NM_021258 IL22RA1 EXON Missense_R173H exm32089 1 24460721 [A/C] NM_021258 IL22RA1 EXON Missense_V171F exm32095 1 24460844 [A/G] NM_021258 IL22RA1 EXON Missense_S130P exm32097 1 24460847 [T/C] NM_021258 IL22RA1 EXON Missense_I129V exm32098 1 24463665 [T/C] NM_021258 IL22RA1 EXON Missense_R104Q exm32102 1 24463705 [A/G] NM_021258 IL22RA1 EXON Missense_L91F exm32106 1 24463737 [T/C] NM_021258 IL22RA1 EXON Missense_N80S exm32109 1 24463758 [T/C] NM_021258 IL22RA1 EXON Missense_R73Q exm32119 1 24465199 [G/C] NM_021258 IL22RA1 EXON Missense_A17P exm32136 1 24483832 [A/G] NM_173065,NM_170743,NM_173064 IFNLR1,IFNLR1,IFNLR1 EXON Silent,Missense_W451R,Missense_W422R exm32146 1 24484108 [A/G] NM_173065,NM_170743,NM_173064 IFNLR1,IFNLR1,IFNLR1 EXON Silent,Missense_H359Y,Missense_H330Y exm32148 1 24484171 [T/C] NM_173065,NM_170743,NM_173064 IFNLR1,IFNLR1,IFNLR1 EXON Silent,Missense_V338I,Missense_V309I exm32149 1 24484195 [T/C] NM_173065,NM_170743,NM_173064 IFNLR1,IFNLR1,IFNLR1 EXON Silent,Missense_D330N,Missense_D301N exm32152 1 24484220 [T/G] NM_173065,NM_170743,NM_173064 IFNLR1,IFNLR1,IFNLR1 EXON Silent,Missense_D321E,Missense_D292E exm32154 1 24484269 [A/G] NM_173065,NM_170743,NM_173064 IFNLR1,IFNLR1,IFNLR1 EXON Silent,Missense_T305M,Missense_T276M exm32157 1 24484365 [A/G] NM_173065,NM_170743,NM_173064 IFNLR1,IFNLR1,IFNLR1 EXON Synonymous_H229H,Missense_T273I,Silent exm32161 1 24485564 [T/C] NM_173065,NM_170743,NM_173064 IFNLR1,IFNLR1,IFNLR1 EXON Silent,Missense_R260Q,Missense_R260Q exm32177 1 24488093 [G/C] NM_173065,NM_170743,NM_173064 IFNLR1,IFNLR1,IFNLR1 EXON Missense_C150S,Missense_C150S,Missense_C150S exm2250960 1 24495968 [A/C] NM_173065,NM_170743,NM_173064 IFNLR1,IFNLR1,IFNLR1 EXON Synonymous_T102T,Synonymous_T102T,Synonymous_T102T exm32185 1 24495990 [T/C] NM_173065,NM_170743,NM_173064 IFNLR1,IFNLR1,IFNLR1 EXON Missense_K95R,Missense_K95R,Missense_K95R exm32187 1 24496050 [A/G] NM_173065,NM_170743,NM_173064 IFNLR1,IFNLR1,IFNLR1 EXON Missense_A75V,Missense_A75V,Missense_A75V exm-rs4649203 1 24519920 [A/G] exm-rs11249024 1 24527095 [T/C] NR_027087 LOC284632 Silent exm2264809 1 24564127 [A/G] exm32205 1 24657930 [A/G] NM_198173,NM_198174,NM_001195010,NM_021180 GRHL3,GRHL3,GRHL3,GRHL3 EXON Missense_R11Q,Missense_R11Q,Silent,Missense_R16Q exm32214 1 24658063 [C/G] NM_198173,NM_198174,NM_001195010,NM_021180 GRHL3,GRHL3,GRHL3,GRHL3 EXON Missense_D55E,Missense_D55E,Missense_D9E,Missense_D60E exm32229 1 24663150 [T/C] NM_198173,NM_198174,NM_001195010,NM_021180 GRHL3,GRHL3,GRHL3,GRHL3 EXON Missense_P149S,Missense_P149S,Missense_P103S,Missense_P154S exm32232 1 24663184 [T/C] NM_198173,NM_198174,NM_001195010,NM_021180 GRHL3,GRHL3,GRHL3,GRHL3 EXON Missense_V160A,Missense_V160A,Missense_V114A,Missense_V165A exm32237 1 24663265 [T/C] NM_198173,NM_198174,NM_001195010,NM_021180 GRHL3,GRHL3,GRHL3,GRHL3 EXON Missense_P187L,Missense_P187L,Missense_P141L,Missense_P192L exm32238 1 24663277 [A/G] NM_198173,NM_198174,NM_001195010,NM_021180 GRHL3,GRHL3,GRHL3,GRHL3 EXON Missense_R191H,Missense_R191H,Missense_R145H,Missense_R196H exm32242 1 24663569 [T/C] NM_198173,NM_198174,NM_001195010,NM_021180 GRHL3,GRHL3,GRHL3,GRHL3 EXON Missense_S205L,Missense_S205L,Missense_S159L,Missense_S210L exm32253 1 24664220 [A/G] NM_198173,NM_198174,NM_001195010,NM_021180 GRHL3,GRHL3,GRHL3,GRHL3 EXON Missense_V261I,Missense_V261I,Missense_V215I,Missense_V266I exm32254 1 24664239 [G/C] NM_198173,NM_198174,NM_001195010,NM_021180 GRHL3,GRHL3,GRHL3,GRHL3 EXON Missense_A267G,Missense_A267G,Missense_A221G,Missense_A272G exm32273 1 24668716 [T/C] NM_198173,NM_198174,NM_001195010,NM_021180 GRHL3,GRHL3,GRHL3,GRHL3 EXON Missense_R387C,Missense_R387C,Missense_R341C,Missense_R392C exm32288 1 24669457 [T/C] NM_198173,NM_198174,NM_001195010,NM_021180 GRHL3,GRHL3,GRHL3,GRHL3 EXON Missense_T454M,Missense_T454M,Missense_T408M,Missense_T459M exm32291 1 24669481 [A/G] NM_198173,NM_198174,NM_001195010,NM_021180 GRHL3,GRHL3,GRHL3,GRHL3 EXON Missense_N462S,Missense_N462S,Missense_N416S,Missense_N467S exm32293 1 24669515 [A/G] NM_198173,NM_198174,NM_001195010,NM_021180 GRHL3,GRHL3,GRHL3,GRHL3 EXON Synonymous_G473G,Synonymous_G473G,Synonymous_G427G,Synonymous_G478G exm32295 1 24671397 [T/C] NM_198173,NM_198174,NM_001195010,NM_021180 GRHL3,GRHL3,GRHL3,GRHL3 EXON Missense_S477L,Missense_S477L,Missense_S431L,Missense_S482L exm32297 1 24671406 [A/C] NM_198173,NM_198174,NM_001195010,NM_021180 GRHL3,GRHL3,GRHL3,GRHL3 EXON Missense_P480H,Missense_P480H,Missense_P434H,Missense_P485H exm32299 1 24671418 [A/G] NM_198173,NM_198174,NM_001195010,NM_021180 GRHL3,GRHL3,GRHL3,GRHL3 EXON Missense_N484S,Missense_N484S,Missense_N438S,Missense_N489S exm32304 1 24673057 [A/G] NM_198173,NM_198174,NM_001195010,NM_021180 GRHL3,GRHL3,GRHL3,GRHL3 EXON Missense_R490H,Missense_R490H,Missense_R444H,Missense_R495H exm32307 1 24673119 [A/G] NM_198173,NM_198174,NM_001195010,NM_021180 GRHL3,GRHL3,GRHL3,GRHL3 EXON Missense_D511N,Missense_D511N,Missense_D465N,Missense_D516N exm32310 1 24680910 [T/C] NM_198173,NM_198174,NM_001195010,NM_021180 GRHL3,GRHL3,GRHL3,GRHL3 EXON Missense_H581Y,Silent,Missense_H535Y,Missense_H586Y exm32319 1 24687343 [C/G] NM_198174,NM_001199012,NM_001199014,NM_001199013,NM_178122 GRHL3,STPG1,STPG1,STPG1,STPG1 EXON Silent,Missense_P309R,Missense_P217R,Missense_P309R,Missense_P262R exm32324 1 24687371 [T/C] NM_198174,NM_001199012,NM_001199014,NM_001199013,NM_178122 GRHL3,STPG1,STPG1,STPG1,STPG1 EXON Silent,Missense_A300T,Missense_A208T,Missense_A300T,Missense_A253T exm32331 1 24687441 [C/G] NM_198174,NM_001199012,NM_001199014,NM_001199013,NM_178122 GRHL3,STPG1,STPG1,STPG1,STPG1 EXON Silent,Missense_D276E,Missense_D184E,Missense_D276E,Missense_D229E exm32334 1 24690676 [A/G] NM_198174,NM_001199012,NM_001199014,NM_001199013,NM_178122 GRHL3,STPG1,STPG1,STPG1,STPG1 EXON Missense_E566K,Silent,Silent,Silent,Silent exm32337 1 24690764 [A/T] NM_198174,NM_001199012,NM_001199014,NM_001199013,NM_178122 GRHL3,STPG1,STPG1,STPG1,STPG1 EXON Missense_M595K,Silent,Silent,Silent,Silent exm32347 1 24696293 [A/G] NM_001199012,NM_001199014,NM_001199013,NM_178122 STPG1,STPG1,STPG1,STPG1 EXON Missense_S203L,Missense_S111L,Missense_S203L,Missense_S156L exm32357 1 24706144 [T/C] NM_001199012,NM_001199014,NM_001199013,NM_178122 STPG1,STPG1,STPG1,STPG1 EXON Missense_N154S,Missense_N62S,Missense_N154S,Missense_N107S exm32364 1 24706274 [T/C] NM_001199012,NM_001199014,NM_001199013,NM_178122 STPG1,STPG1,STPG1,STPG1 EXON Missense_A111T,Missense_A19T,Missense_A111T,Missense_A64T exm32365 1 24706292 [T/C] NM_001199012,NM_001199014,NM_001199013,NM_178122 STPG1,STPG1,STPG1,STPG1 EXON Missense_I105V,Missense_I13V,Missense_I105V,Missense_I58V exm32367 1 24706304 [A/T] NM_001199012,NM_001199014,NM_001199013,NM_178122 STPG1,STPG1,STPG1,STPG1 EXON Missense_L101M,Missense_L9M,Missense_L101M,Missense_L54M exm32374 1 24710405 [A/G] NM_001199012,NM_001199014,NM_001199013,NM_178122 STPG1,STPG1,STPG1,STPG1 EXON Missense_M93T,Missense_M1T,Missense_M93T,Missense_M46T exm32377 1 24710465 [T/C] NM_001199012,NM_001199014,NM_001199013,NM_178122 STPG1,STPG1,STPG1,STPG1 EXON Missense_N73S,Silent,Missense_N73S,Missense_N26S exm32379 1 24710487 [T/C] NM_001199012,NM_001199014,NM_001199013,NM_178122 STPG1,STPG1,STPG1,STPG1 EXON Missense_I66V,Silent,Missense_I66V,Missense_I19V exm2250982 1 24718075 [T/C] NM_001199012,NM_001199014,NM_001199013,NM_178122 STPG1,STPG1,STPG1,STPG1 EXON Synonymous_Q55Q,Silent,Synonymous_Q55Q,Silent exm32381 1 24718079 [A/C] NM_001199012,NM_001199014,NM_001199013,NM_178122 STPG1,STPG1,STPG1,STPG1 EXON Missense_S54I,Silent,Missense_S54I,Silent exm32388 1 24746056 [A/G] NM_020448 NIPAL3 EXON Missense_A7T exm32403 1 24768603 [A/G] NM_020448 NIPAL3 EXON Missense_K74R exm32406 1 24768665 [A/G] NM_020448 NIPAL3 EXON Missense_A95T exm32409 1 24768686 [A/G] NM_020448 NIPAL3 EXON Missense_I102V exm32418 1 24776000 [A/G] NM_020448 NIPAL3 EXON Missense_G142S exm32420 1 24776012 [A/G] NM_020448 NIPAL3 EXON Missense_V146M exm32439 1 24782681 [A/G] NM_020448 NIPAL3 EXON Missense_I231V exm32447 1 24782763 [T/C] NM_020448 NIPAL3 EXON Missense_A258V exm2260076 1 24822500 [T/C] exm32472 1 24840882 [A/G] NM_001251984,NM_001251979,NM_013441,NM_001251977,NM_001251981,NM_001251983,NM_001251978,NM_001251980,NM_001251982,NM_001251985 RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3 EXON Silent,Missense_K7R,Missense_K7R,Missense_K7R,Missense_K7R,Silent,Missense_K7R,Missense_K7R,Missense_K7R,Missense_K7R exm32494 1 24861697 [T/C] NM_001251984,NM_001251979,NM_013441,NM_001251977,NM_001251981,NM_001251983,NM_001251978,NM_001251980,NM_001251982,NM_001251985 RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3 EXON Missense_A94V,Missense_A219V,Missense_A219V,Missense_A219V,Missense_A161V,Missense_A94V,Missense_A219V,Missense_A209V,Missense_P162S,Missense_P104S exm2232995 1 24861714 [A/G] NM_001251984,NM_001251979,NM_013441,NM_001251977,NM_001251981,NM_001251983,NM_001251978,NM_001251980,NM_001251982,NM_001251985 RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3 EXON Missense_D100N,Missense_D225N,Missense_D225N,Missense_D225N,Missense_D167N,Missense_D100N,Missense_D225N,Missense_D215N,Synonymous_P167P,Synonymous_P109P exm32503 1 24922000 [A/G] NM_001010980 NCMAP EXON Missense_K27E exm32505 1 24927446 [T/C] NM_001010980 NCMAP EXON Missense_V33A exm32506 1 24927454 [A/G] NM_001010980 NCMAP EXON Missense_V36I exm32517 1 24932223 [C/G] NM_001010980 NCMAP EXON Missense_Q98H exm32518 1 24932231 [T/C] NM_001010980 NCMAP EXON Missense_T101M exm32537 1 24976486 [A/G] NM_005839 SRRM1 EXON Missense_M144V exm32543 1 24977982 [T/C] NM_005839 SRRM1 EXON Missense_R202C exm32558 1 24979423 [T/C] NM_005839 SRRM1 EXON Missense_R314W exm32561 1 24979487 [T/C] NM_005839 SRRM1 EXON Missense_P335L exm32595 1 24995631 [T/C] NM_005839 SRRM1 EXON Missense_P586L exm32611 1 24995933 [T/C] NM_005839 SRRM1 EXON Missense_R687W exm-rs4601530 1 25044111 [T/C] exm32654 1 25124329 [A/G] NM_013943 CLIC4 EXON Missense_V57I exm32664 1 25167282 [T/C] NM_013943 CLIC4 EXON Missense_R206C exm32684 1 25228747 [T/C] NM_004350,NM_001031680 RUNX3,RUNX3 EXON Missense_A372T,Missense_A386T exm32692 1 25228900 [T/C] NM_004350,NM_001031680 RUNX3,RUNX3 EXON Missense_G321R,Missense_G335R exm2251041 1 25277982 [T/C] NM_001031680 RUNX3 Silent exm-rs11249215 1 25297184 [A/G] exm-rs10903122 1 25303576 [A/G] exm2264810 1 25378444 [A/G] exm32781 1 25551505 [T/C] NM_015484,NM_207170 SYF2,SYF2 EXON Missense_D185G,Missense_D143G exm32783 1 25551509 [T/C] NM_015484,NM_207170 SYF2,SYF2 EXON Missense_I184V,Missense_I142V exm32789 1 25553993 [T/C] NM_015484,NM_207170 SYF2,SYF2 EXON Missense_H136R,Missense_H94R exm32794 1 25554719 [A/G] NM_015484,NM_207170 SYF2,SYF2 EXON Missense_A89V,Missense_A47V exm2268872 1 25555672 [T/C] NM_015484,NM_207170 SYF2,SYF2 Silent,Silent exm32810 1 25570081 [T/C] NM_020317 C1orf63 EXON Missense_E239G exm32815 1 25571666 [A/G] NM_020317 C1orf63 EXON Missense_V216A exm32828 1 25572968 [A/G] NM_020317 C1orf63 EXON Missense_R163W exm32830 1 25572984 [T/G] NM_020317 C1orf63 EXON Missense_R157S exm32831 1 25572985 [T/C] NM_020317 C1orf63 EXON Missense_R157K exm32832 1 25572993 [T/C] NM_020317 C1orf63 EXON Nonsense_W154X exm32833 1 25573016 [A/G] NM_020317 C1orf63 EXON Missense_Y147H exm32839 1 25573151 [T/C] NM_020317 C1orf63 EXON Missense_R102G exm32843 1 25573262 [C/G] NM_020317 C1orf63 EXON Missense_R65G exm32848 1 25573406 [T/C] NM_020317 C1orf63 EXON Missense_D17N exm32886 1 25627470 [A/G] NM_001127691,NM_016124 RHD,RHD EXON Missense_V174M,Missense_V174M exm32902 1 25628050 [T/C] NM_001127691,NM_016124 RHD,RHD EXON Missense_S225F,Missense_S225F exm1778926 1 25629943 [A/C] NM_001127691,NM_016124 RHD,RHD EXON Missense_Y311S,Missense_Y311S exm32925 1 25629950 [A/G] NM_001127691,NM_016124 RHD,RHD EXON Synonymous_P313P,Synonymous_P313P exm32949 1 25667024 [T/G] NM_014313 TMEM50A EXON Missense_W16L exm32955 1 25669467 [T/G] NM_014313 TMEM50A EXON Missense_W37G exm32957 1 25669531 [T/C] NM_014313 TMEM50A EXON Missense_A58V exm-rs3091242 1 25674785 [T/C] NM_014313 TMEM50A Silent exm1779623 1 25679393 [A/G] NM_014313 TMEM50A EXON Missense_V99I exm32964 1 25679438 [A/G] NM_014313 TMEM50A EXON Missense_I114V exm32979 1 25712227 [C/G] NM_138617,NM_138616,NM_020485,NM_138618 RHCE,RHCE,RHCE,RHCE EXON Missense_H245D,Missense_H199D,Missense_H350D,Silent exm32981 1 25712269 [A/C] NM_138617,NM_138616,NM_020485,NM_138618 RHCE,RHCE,RHCE,RHCE EXON Missense_G231C,Missense_G185C,Missense_G336C,Silent exm32993 1 25715588 [A/G] NM_138617,NM_138616,NM_020485,NM_138618 RHCE,RHCE,RHCE,RHCE EXON Missense_A168V,Silent,Missense_A273V,Missense_A273V exm33001 1 25717365 [G/C] NM_138617,NM_138616,NM_020485,NM_138618 RHCE,RHCE,RHCE,RHCE EXON Silent,Silent,Missense_A226P,Missense_A226P exm33010 1 25718599 [T/C] NM_138617,NM_138616,NM_020485,NM_138618 RHCE,RHCE,RHCE,RHCE EXON Silent,Silent,Missense_V174M,Missense_V174M exm1780091 1 25729198 [G/C] NM_138617,NM_138616,NM_020485,NM_138618 RHCE,RHCE,RHCE,RHCE EXON Missense_I125M,Missense_I125M,Missense_I125M,Missense_I125M exm2263875 1 25747156 [T/C] NM_138617,NM_138616,NM_020485,NM_138618 RHCE,RHCE,RHCE,RHCE EXON Missense_Q41R,Missense_Q41R,Missense_Q41R,Missense_Q41R exm-rs10903129 1 25768937 [A/G] NM_018202 TMEM57 Silent exm-rs12027135 1 25775733 [T/A] NM_018202 TMEM57 Silent exm33067 1 25783303 [A/C] NM_018202 TMEM57 EXON Missense_Q211H exm33077 1 25785240 [A/C] NM_018202 TMEM57 EXON Missense_S337R exm33104 1 25880437 [T/C] NM_015627 LDLRAP1 EXON Missense_T38M exm33110 1 25881403 [A/G] NM_015627 LDLRAP1 EXON Missense_R95Q exm33125 1 25883750 [T/C] NM_015627 LDLRAP1 EXON Missense_R151W exm33137 1 25889632 [T/C] NM_015627 LDLRAP1 EXON Missense_S202P exm33138 1 25889633 [A/C] NM_015627 LDLRAP1 EXON Missense_S202Y exm33142 1 25890161 [T/C] NM_015627 LDLRAP1 EXON Missense_T209I exm33143 1 25890188 [T/C] NM_015627 LDLRAP1 EXON Missense_T218I exm33146 1 25890211 [A/G] NM_015627 LDLRAP1 EXON Missense_V226I exm33163 1 25893406 [A/G] NM_015627 LDLRAP1 EXON Missense_A284T exm33168 1 25893463 [A/G] NM_015627 LDLRAP1 EXON Missense_D303N exm33178 1 25944454 [C/G] NM_020379 MAN1C1 EXON Missense_P56A exm33191 1 26012988 [T/C] NM_020379 MAN1C1 EXON Missense_R200C exm33195 1 26073240 [A/C] NM_020379 MAN1C1 EXON Missense_K240T exm33196 1 26073242 [A/G] NM_020379 MAN1C1 EXON Missense_A241T exm33205 1 26080021 [T/C] NM_020379 MAN1C1 EXON Missense_A294V exm1781563 1 26085106 [T/C] NM_020379 MAN1C1 EXON Missense_A318V exm2268666 1 26097731 [T/C] NM_020379 MAN1C1 Silent exm33243 1 26104774 [A/C] NM_020379 MAN1C1 EXON Missense_A479D exm33252 1 26107481 [A/G] NM_020379 MAN1C1 EXON Missense_V510M exm33254 1 26107502 [A/G] NM_020379 MAN1C1 EXON Missense_S517G exm33269 1 26110236 [A/G] NM_020379 MAN1C1 EXON Missense_V617M exm33277 1 26131638 [A/G] NM_206926,NM_020451 SEPN1,SEPN1 EXON Missense_T103A,Missense_T137A exm33278 1 26131644 [A/G] NM_206926,NM_020451 SEPN1,SEPN1 EXON Missense_A105T,Missense_A139T exm33280 1 26131654 [A/G] NM_206926,NM_020451 SEPN1,SEPN1 EXON Missense_C108Y,Missense_C142Y exm33290 1 26135249 [A/G] NM_206926,NM_020451 SEPN1,SEPN1 EXON Missense_R205H,Missense_R239H exm33299 1 26136244 [A/G] NM_206926,NM_020451 SEPN1,SEPN1 EXON Missense_G281S,Missense_G315S exm33319 1 26139191 [T/C] NM_206926,NM_020451 SEPN1,SEPN1 EXON Missense_P398L,Missense_P432L exm33331 1 26140573 [A/C] NM_206926,NM_020451 SEPN1,SEPN1 EXON Missense_N468K,Missense_N502K exm33340 1 26142081 [A/G] NM_206926,NM_020451 SEPN1,SEPN1 EXON Missense_V515M,Missense_V549M exm33341 1 26142090 [A/G] NM_206926,NM_020451 SEPN1,SEPN1 EXON Missense_E518K,Missense_E552K exm33345 1 26142151 [A/C] NM_206926,NM_020451 SEPN1,SEPN1 EXON Missense_T538N,Missense_T572N exm33346 1 26142180 [T/C] NM_206926,NM_020451 SEPN1,SEPN1 EXON Missense_R548W,Missense_R582W exm33347 1 26142181 [A/G] NM_206926,NM_020451 SEPN1,SEPN1 EXON Missense_R548Q,Missense_R582Q exm33356 1 26150160 [T/C] NM_001099627,NM_001099625,NM_019557,NM_001099626 MTFR1L,MTFR1L,MTFR1L,MTFR1L EXON Missense_P17L,Missense_P17L,Missense_P17L,Missense_P17L exm33359 1 26150190 [A/G] NM_001099627,NM_001099625,NM_019557,NM_001099626 MTFR1L,MTFR1L,MTFR1L,MTFR1L EXON Missense_R27K,Missense_R27K,Missense_R27K,Missense_R27K exm33365 1 26152835 [T/C] NM_001099627,NM_001099625,NM_019557,NM_001099626 MTFR1L,MTFR1L,MTFR1L,MTFR1L EXON Missense_P58S,Missense_P58S,Missense_P58S,Missense_P58S exm33370 1 26153114 [T/C] NM_001099627,NM_001099625,NM_019557,NM_001099626 MTFR1L,MTFR1L,MTFR1L,MTFR1L EXON Missense_T83M,Missense_T83M,Missense_T83M,Missense_T83M exm33373 1 26153204 [A/G] NM_001099627,NM_001099625,NM_019557,NM_001099626 MTFR1L,MTFR1L,MTFR1L,MTFR1L EXON Missense_R113K,Missense_R113K,Missense_R113K,Missense_R113K exm33375 1 26153245 [T/C] NM_001099627,NM_001099625,NM_019557,NM_001099626 MTFR1L,MTFR1L,MTFR1L,MTFR1L EXON Missense_R127C,Missense_R127C,Missense_R127C,Missense_R127C exm33383 1 26156074 [A/T] NM_001099627,NM_001099625,NM_019557,NM_001099626 MTFR1L,MTFR1L,MTFR1L,MTFR1L EXON Silent,Missense_S176T,Missense_S176T,Missense_S176T exm33384 1 26156118 [T/C] NM_001099627,NM_001099625,NM_019557,NM_001099626 MTFR1L,MTFR1L,MTFR1L,MTFR1L EXON Missense_P154L,Synonymous_T190T,Synonymous_T190T,Synonymous_T190T exm33385 1 26156133 [A/G] NM_001099627,NM_001099625,NM_019557,NM_001099626 MTFR1L,MTFR1L,MTFR1L,MTFR1L EXON Nonsense_W159X,Synonymous_V195V,Synonymous_V195V,Synonymous_V195V exm33394 1 26158498 [T/C] NM_001099627,NM_001099625,NM_019557,NM_001099626 MTFR1L,MTFR1L,MTFR1L,MTFR1L EXON Silent,Missense_I287T,Missense_I287T,Missense_I287T exm33400 1 26161593 [T/C] NM_024037 AUNIP EXON Missense_N322S exm33403 1 26161671 [T/C] NM_024037 AUNIP EXON Missense_R296Q exm33409 1 26161800 [A/G] NM_024037 AUNIP EXON Missense_S253F exm33419 1 26162016 [T/C] NM_024037 AUNIP EXON Missense_S181N exm33424 1 26162109 [A/G] NM_024037 AUNIP EXON Missense_S150L exm2251114 1 26162258 [T/C] NM_024037 AUNIP EXON Synonymous_A100A exm33428 1 26162259 [A/G] NM_024037 AUNIP EXON Missense_A100V exm33430 1 26162313 [T/G] NM_024037 AUNIP EXON Missense_K82T exm33437 1 26163981 [A/G] NM_024037 AUNIP EXON Missense_I48T exm33438 1 26164009 [A/G] NM_024037 AUNIP EXON Missense_L39F exm33442 1 26185812 [A/C] NM_024037 AUNIP EXON Missense_V13L exm1781783 1 26189349 [T/G] NM_178422 PAQR7 EXON Missense_L328I exm1781784 1 26189351 [A/C] NM_178422 PAQR7 EXON Missense_I327S exm33455 1 26189366 [A/G] NM_178422 PAQR7 EXON Missense_T322M exm33461 1 26189517 [T/C] NM_178422 PAQR7 EXON Missense_G272R exm33466 1 26189652 [T/C] NM_178422 PAQR7 EXON Missense_V227M exm33473 1 26189838 [T/C] NM_178422 PAQR7 EXON Missense_A165T exm33477 1 26189939 [G/C] NM_178422 PAQR7 EXON Missense_S131C exm33490 1 26190120 [T/C] NM_178422 PAQR7 EXON Missense_E71K exm33494 1 26190140 [A/G] NM_178422 PAQR7 EXON Missense_T64M exm1781797 1 26190156 [A/G] NM_178422 PAQR7 EXON Missense_R59C exm33499 1 26190188 [T/C] NM_178422 PAQR7 EXON Missense_Y48C exm33503 1 26190287 [T/C] NM_178422 PAQR7 EXON Missense_R15Q exm2233038 1 26212220 [A/C] NM_001145454 STMN1 EXON Missense_H173Q exm33531 1 26212261 [A/G] NM_001145454 STMN1 EXON Missense_L160F exm33548 1 26288523 [A/G] NM_000437 PAFAH2 EXON Missense_P379L exm2276804 1 26299049 [C/G] NM_000437 PAFAH2 EXON Missense_D362H exm33549 1 26299050 [A/G] NM_000437 PAFAH2 EXON Synonymous_L361L exm33557 1 26300975 [T/C] NM_000437 PAFAH2 EXON Missense_V309I exm33561 1 26301114 [T/C] NM_000437 PAFAH2 EXON Missense_M262I exm33563 1 26303173 [T/C] NM_000437 PAFAH2 EXON Missense_R253Q exm33565 1 26303228 [A/G] NM_000437 PAFAH2 EXON Missense_H235Y exm33566 1 26308864 [T/C] NM_000437 PAFAH2 EXON Missense_M219I exm33570 1 26308958 [T/C] NM_000437 PAFAH2 EXON Missense_R188Q exm1781988 1 26310438 [T/C] NM_000437 PAFAH2 EXON Missense_Q184R exm33574 1 26310469 [T/C] NM_000437 PAFAH2 EXON Missense_G174R exm33575 1 26310477 [A/G] NM_000437 PAFAH2 EXON Missense_V171A exm33576 1 26310481 [A/G] NM_000437 PAFAH2 EXON Nonsense_R170X exm33595 1 26314810 [A/G] NM_000437 PAFAH2 EXON Missense_R85C exm33599 1 26315966 [T/C] NM_000437 PAFAH2 EXON Missense_G73R exm1782009 1 26317301 [A/C] NM_000437 PAFAH2 EXON Missense_V3F exm33612 1 26317303 [T/C] NM_000437 PAFAH2 EXON Missense_G2E exm33617 1 26349187 [T/C] NM_004455 EXTL1 EXON Missense_S17F exm33619 1 26349220 [C/G] NM_004455 EXTL1 EXON Missense_S28C exm33623 1 26349252 [T/C] NM_004455 EXTL1 EXON Missense_R39W exm33625 1 26349342 [A/G] NM_004455 EXTL1 EXON Missense_V69I exm33626 1 26349354 [G/C] NM_004455 EXTL1 EXON Missense_Q73E exm1782051 1 26349373 [C/G] NM_004455 EXTL1 EXON Missense_S79T exm33627 1 26349374 [A/C] NM_004455 EXTL1 EXON Missense_S79R exm33631 1 26349417 [A/G] NM_004455 EXTL1 EXON Missense_D94N exm33636 1 26349625 [A/G] NM_004455 EXTL1 EXON Missense_R163H exm33648 1 26349886 [C/G] NM_004455 EXTL1 EXON Missense_G250A exm33653 1 26355691 [T/C] NM_004455 EXTL1 EXON Missense_R263C exm33654 1 26355692 [A/G] NM_004455 EXTL1 EXON Missense_R263H exm33656 1 26355739 [T/C] NM_004455 EXTL1 EXON Missense_R279C exm33657 1 26355740 [A/G] NM_004455 EXTL1 EXON Missense_R279H exm33658 1 26355745 [A/G] NM_004455 EXTL1 EXON Missense_E281K exm33667 1 26356190 [G/C] NM_004455 EXTL1 EXON Missense_P325A exm33676 1 26357072 [A/C] NM_004455 EXTL1 EXON Missense_H363N exm33681 1 26357656 [A/C] NM_004455 EXTL1 EXON Missense_H379N exm33708 1 26361467 [A/G] NM_004455 EXTL1 EXON Missense_G607D exm33709 1 26361497 [T/C] NM_004455 EXTL1 Silent exm33714 1 26361669 [A/C] NM_004455 EXTL1 EXON Missense_P621Q exm33724 1 26365722 [T/C] NM_001004434,NM_032513 SLC30A2,SLC30A2 EXON Missense_V350M,Missense_V301M exm33725 1 26365751 [T/C] NM_001004434,NM_032513 SLC30A2,SLC30A2 EXON Missense_R340H,Missense_R291H exm33726 1 26365752 [A/G] NM_001004434,NM_032513 SLC30A2,SLC30A2 EXON Missense_R340C,Missense_R291C exm33728 1 26365782 [T/C] NM_001004434,NM_032513 SLC30A2,SLC30A2 EXON Missense_A330T,Missense_A281T exm33735 1 26366369 [T/C] NM_001004434,NM_032513 SLC30A2,SLC30A2 EXON Missense_R291H,Missense_R242H exm33767 1 26371679 [T/C] NM_001004434,NM_032513 SLC30A2,SLC30A2 EXON Missense_G27E,Missense_G27E exm33769 1 26371691 [A/G] NM_001004434,NM_032513 SLC30A2,SLC30A2 EXON Missense_L23P,Missense_L23P exm33774 1 26372371 [T/C] NM_001004434,NM_032513 SLC30A2,SLC30A2 EXON Missense_K6R,Missense_K6R exm33781 1 26380423 [A/C] NM_032588 TRIM63 EXON Missense_D338Y exm33794 1 26384907 [T/C] NM_032588 TRIM63 EXON Missense_E269K exm33796 1 26384973 [A/G] NM_032588 TRIM63 EXON Nonsense_Q247X exm33805 1 26385059 [A/G] NM_032588 TRIM63 EXON Missense_A218V exm2233040 1 26386806 [T/C] NM_032588 TRIM63 EXON Missense_R183H exm33828 1 26387820 [A/G] NM_032588 TRIM63 EXON Missense_P113L exm33837 1 26392867 [T/C] NM_032588 TRIM63 EXON Missense_C75Y exm33838 1 26392870 [T/C] NM_032588 TRIM63 EXON Missense_R74H exm33841 1 26392921 [A/G] NM_032588 TRIM63 EXON Missense_P57L exm33843 1 26393826 [T/C] NM_032588 TRIM63 Silent exm33845 1 26393843 [A/G] NM_032588 TRIM63 EXON Missense_A48V exm2273320 1 26450009 [T/C] NM_001243532,NM_152835,NM_001243533 PDIK1L,PDIK1L,PDIK1L EXON Silent,Silent,Silent exm33878 1 26487895 [A/G] NM_024869 FAM110D EXON Missense_R38Q exm33906 1 26496491 [A/G] NM_015871 ZNF593 EXON Missense_R6Q exm33943 1 26507075 [A/G] NM_006314,NR_023345 CNKSR1,CNKSR1 EXON Missense_G62S,Silent exm33945 1 26507222 [T/C] NM_006314,NR_023345 CNKSR1,CNKSR1 EXON Missense_T76I,Silent exm1782552 1 26507260 [A/G] NM_006314,NR_023345 CNKSR1,CNKSR1 EXON Missense_A89T,Silent exm33951 1 26507327 [A/T] NM_006314,NR_023345 CNKSR1,CNKSR1 EXON Missense_V111D,Silent exm33962 1 26508416 [A/G] NM_006314,NR_023345 CNKSR1,CNKSR1 EXON Missense_S154N,Silent exm33979 1 26509049 [A/G] NM_006314,NR_023345 CNKSR1,CNKSR1 EXON Missense_E200K,Silent exm33983 1 26509070 [C/G] NM_006314,NR_023345 CNKSR1,CNKSR1 EXON Missense_P207A,Silent exm33995 1 26509900 [A/G] NM_006314,NR_023345 CNKSR1,CNKSR1 EXON Missense_V250M,Silent exm34003 1 26510299 [T/C] NM_006314,NR_023345 CNKSR1,CNKSR1 EXON Missense_P278L,Silent exm34008 1 26510563 [T/C] NM_006314,NR_023345 CNKSR1,CNKSR1 EXON Missense_T286M,Silent exm2233045 1 26510721 [A/G] NM_006314,NR_023345 CNKSR1,CNKSR1 EXON Missense_V315I,Silent exm34024 1 26510940 [A/C] NM_006314,NR_023345 CNKSR1,CNKSR1 EXON Missense_P350Q,Silent exm34041 1 26511622 [A/G] NM_006314,NR_023345 CNKSR1,CNKSR1 EXON Missense_R418H,Silent exm34048 1 26513940 [T/C] NM_006314,NR_023345 CNKSR1,CNKSR1 EXON Missense_I474T,Silent exm34052 1 26514732 [T/C] NM_006314,NR_023345 CNKSR1,CNKSR1 EXON Missense_R488C,Silent exm34053 1 26514762 [T/C] NM_006314,NR_023345 CNKSR1,CNKSR1 EXON Nonsense_Q498X,Silent exm34057 1 26514790 [A/G] NM_006314,NR_023345 CNKSR1,CNKSR1 EXON Missense_R507Q,Silent exm34069 1 26515261 [A/G] NM_006314,NR_023345 CNKSR1,CNKSR1 Silent,Silent exm34070 1 26515264 [T/C] NM_006314,NR_023345 CNKSR1,CNKSR1 EXON Synonymous_D564D,Silent exm34072 1 26515307 [A/C] NM_006314,NR_023345 CNKSR1,CNKSR1 EXON Missense_Q579K,Silent exm34076 1 26515337 [T/C] NM_006314,NR_023345 CNKSR1,CNKSR1 EXON Nonsense_Q589X,Silent exm34084 1 26515416 [A/G] NM_006314,NR_023345 CNKSR1,CNKSR1 EXON Missense_R615H,Silent exm34088 1 26515840 [A/G] NM_006314,NR_023345 CNKSR1,CNKSR1 EXON Missense_R648H,Silent exm34089 1 26515860 [T/C] NM_006314,NR_023345 CNKSR1,CNKSR1 EXON Missense_R655W,Silent exm34093 1 26515956 [A/C] NM_006314,NR_023345 CNKSR1,CNKSR1 EXON Missense_H687N,Silent exm34094 1 26515965 [T/C] NM_006314,NR_023345 CNKSR1,CNKSR1 EXON Missense_P690S,Silent exm34106 1 26517216 [A/G] NM_198137 CATSPER4 EXON Missense_G33E exm34111 1 26517267 [A/G] NM_198137 CATSPER4 EXON Missense_H50R exm1782644 1 26517309 [A/G] NM_198137 CATSPER4 EXON Missense_R64H exm34121 1 26517793 [T/C] NM_198137 CATSPER4 EXON Nonsense_Q77X exm34122 1 26517794 [A/G] NM_198137 CATSPER4 EXON Missense_Q77R exm34124 1 26517811 [A/G] NM_198137 CATSPER4 EXON Missense_M83V exm34128 1 26517908 [C/G] NM_198137 CATSPER4 EXON Missense_S115C exm34136 1 26520292 [T/G] NM_198137 CATSPER4 EXON Missense_L124F exm-rs11809207 1 26521140 [A/G] NM_198137 CATSPER4 Silent exm34145 1 26524246 [A/G] NM_198137 CATSPER4 EXON Missense_N177D exm34149 1 26524450 [T/C] NM_198137 CATSPER4 EXON Missense_A187V exm34151 1 26524456 [A/G] NM_198137 CATSPER4 EXON Missense_R189H exm34158 1 26524534 [T/C] NM_198137 CATSPER4 EXON Missense_A215V exm34177 1 26526375 [A/G] NM_198137 CATSPER4 EXON Synonymous_Q271Q exm34178 1 26526439 [A/G] NM_198137 CATSPER4 EXON Missense_I293V exm2233048 1 26526539 [A/C] NM_198137 CATSPER4 EXON Missense_T326N exm34187 1 26527325 [A/G] NM_198137 CATSPER4 EXON Missense_G331D exm1782677 1 26527913 [C/G] NM_198137 CATSPER4 EXON Missense_S423W exm34208 1 26527925 [A/G] NM_198137 CATSPER4 EXON Missense_G427E exm34212 1 26527951 [A/G] NM_198137 CATSPER4 EXON Missense_D436N exm34213 1 26527977 [A/C] NM_198137 CATSPER4 EXON Missense_Q444H exm34219 1 26566299 [A/G] NM_022778 CEP85 EXON Missense_T9A exm34221 1 26570657 [T/G] NM_022778 CEP85 EXON Missense_S19I exm34226 1 26570744 [A/G] NM_022778 CEP85 EXON Missense_R48H exm34234 1 26581859 [A/G] NM_022778 CEP85 EXON Missense_G136S exm34236 1 26581883 [G/C] NM_022778 CEP85 EXON Missense_L144V exm34240 1 26581916 [A/G] NM_022778 CEP85 EXON Missense_T155A exm2251133 1 26581981 [A/G] NM_022778 CEP85 EXON Synonymous_A176A exm34244 1 26582075 [T/C] NM_022778 CEP85 EXON Missense_H208Y exm34246 1 26582091 [A/G] NM_022778 CEP85 EXON Missense_S213N exm1782819 1 26582312 [T/C] NM_022778 CEP85 EXON Missense_R287W exm34256 1 26582340 [A/G] NM_022778 CEP85 EXON Missense_Q296R exm2251134 1 26584144 [A/C] NM_022778 CEP85 EXON Synonymous_I320I exm34262 1 26584144 [A/C] NM_022778 CEP85 EXON Synonymous_I320I exm34268 1 26584731 [A/G] NM_022778 CEP85 EXON Missense_V379I exm34271 1 26586135 [T/C] NM_022778 CEP85 EXON Missense_R395C exm34276 1 26586167 [T/G] NM_022778 CEP85 EXON Missense_L405F exm34289 1 26596080 [A/G] NM_022778 CEP85 EXON Missense_A542T exm1782840 1 26596095 [A/G] NM_022778 CEP85 EXON Missense_A547T exm34291 1 26597519 [A/G] NM_022778 CEP85 EXON Missense_Q555R exm34292 1 26597521 [T/G] NM_022778 CEP85 EXON Missense_S556A exm34300 1 26598562 [T/G] NM_022778 CEP85 EXON Missense_Q598H exm34307 1 26603090 [T/C] NM_022778 CEP85 EXON Missense_A656V exm34323 1 26607302 [A/G] NM_031286 SH3BGRL3 EXON Missense_R32H exm2233051 1 26607406 [A/G] NM_031286 SH3BGRL3 EXON Missense_G67R exm2251136 1 26607563 [T/C] NM_031286 SH3BGRL3 EXON Synonymous_F77F exm34381 1 26608935 [T/C] NM_145345,NM_183008,NM_001077262 UBXN11,UBXN11,UBXN11 EXON Missense_R440Q,Missense_R473Q,Missense_R353Q exm1782881 1 26609029 [T/C] NM_145345,NM_183008,NM_001077262 UBXN11,UBXN11,UBXN11 EXON Missense_S409G,Missense_S442G,Missense_S322G exm1782884 1 26609233 [T/C] NM_145345,NM_183008,NM_001077262 UBXN11,UBXN11,UBXN11 EXON Missense_R367H,Missense_R400H,Missense_R280H exm34405 1 26610881 [G/C] NM_145345,NM_183008,NM_001077262 UBXN11,UBXN11,UBXN11 EXON Missense_K282N,Missense_K315N,Missense_K195N exm34406 1 26610891 [A/C] NM_145345,NM_183008,NM_001077262 UBXN11,UBXN11,UBXN11 EXON Missense_L279R,Missense_L312R,Missense_L192R exm34412 1 26610961 [A/G] NM_145345,NM_183008,NM_001077262 UBXN11,UBXN11,UBXN11 EXON Missense_R256C,Missense_R289C,Missense_R169C exm34416 1 26611971 [T/C] NM_145345,NM_183008,NM_001077262 UBXN11,UBXN11,UBXN11 EXON Missense_N246S,Missense_N279S,Missense_N159S exm34418 1 26612032 [A/G] NM_145345,NM_183008,NM_001077262 UBXN11,UBXN11,UBXN11 EXON Missense_R226C,Missense_R259C,Missense_R139C exm34427 1 26612475 [A/G] NM_145345,NM_183008,NM_001077262 UBXN11,UBXN11,UBXN11 EXON Nonsense_Q172X,Nonsense_Q205X,Nonsense_Q85X exm34430 1 26620735 [T/C] NM_145345,NM_183008,NM_001077262 UBXN11,UBXN11,UBXN11 EXON Missense_E141K,Missense_E174K,Silent exm34431 1 26620761 [T/C] NM_145345,NM_183008,NM_001077262 UBXN11,UBXN11,UBXN11 EXON Missense_E132G,Missense_E165G,Silent exm34433 1 26620806 [T/C] NM_145345,NM_183008,NM_001077262 UBXN11,UBXN11,UBXN11 EXON Missense_Y117C,Missense_Y150C,Silent exm34445 1 26623935 [T/G] NM_145345,NM_183008,NM_001077262 UBXN11,UBXN11,UBXN11 EXON Missense_T80N,Missense_T113N,Silent exm34446 1 26623939 [A/G] NM_145345,NM_183008,NM_001077262 UBXN11,UBXN11,UBXN11 EXON Nonsense_Q79X,Nonsense_Q112X,Silent exm34448 1 26624467 [T/C] NM_145345,NM_183008,NM_001077262 UBXN11,UBXN11,UBXN11 EXON Missense_E63K,Missense_E96K,Silent exm34449 1 26624479 [A/C] NM_145345,NM_183008,NM_001077262 UBXN11,UBXN11,UBXN11 EXON Missense_A59S,Missense_A92S,Silent exm34452 1 26627423 [A/G] NM_145345,NM_183008,NM_001077262 UBXN11,UBXN11,UBXN11 EXON Silent,Missense_R65W,Missense_R65W exm34457 1 26627479 [A/G] NM_145345,NM_183008,NM_001077262 UBXN11,UBXN11,UBXN11 EXON Silent,Missense_S46L,Missense_S46L exm2233053 1 26628186 [A/C] NM_145345,NM_183008,NM_001077262 UBXN11,UBXN11,UBXN11 EXON Missense_D33E,Missense_D33E,Missense_D33E exm34469 1 26629304 [T/C] NM_145345,NM_183008,NM_001077262 UBXN11,UBXN11,UBXN11 EXON Missense_G24E,Missense_G24E,Missense_G24E exm34470 1 26629322 [A/G] NM_145345,NM_183008,NM_001077262 UBXN11,UBXN11,UBXN11 EXON Missense_S18L,Missense_S18L,Missense_S18L exm34477 1 26644537 [A/C] NM_145345,NM_001803 UBXN11,CD52 EXON Silent,Missense_T10N exm34488 1 26646730 [A/G] NM_001803 CD52 EXON Missense_I41M exm34491 1 26646783 [A/G] NM_001803 CD52 EXON Missense_C59Y exm2273321 1 26648381 [T/C] NM_001039775 AIM1L EXON Silent exm34499 1 26648530 [A/G] NM_001039775 AIM1L EXON Missense_R1639W exm34506 1 26648684 [A/G] NM_001039775 AIM1L EXON Missense_M1623T exm34508 1 26648705 [A/G] NM_001039775 AIM1L EXON Missense_S1616L exm34524 1 26650711 [C/G] NM_001039775 AIM1L EXON Missense_V1557L exm2251139 1 26650772 [T/C] NM_001039775 AIM1L EXON Synonymous_A1536A exm34529 1 26650786 [A/G] NM_001039775 AIM1L EXON Missense_R1532C exm34532 1 26650800 [T/C] NM_001039775 AIM1L EXON Missense_R1527H exm34538 1 26654776 [A/C] NM_001039775 AIM1L EXON Missense_V1501G exm34539 1 26654788 [T/C] NM_001039775 AIM1L EXON Missense_R1497H exm34552 1 26655304 [C/G] NM_001039775 AIM1L EXON Missense_E1459Q exm34554 1 26655319 [C/G] NM_001039775 AIM1L EXON Missense_E1454Q exm34556 1 26655327 [T/G] NM_001039775 AIM1L EXON Missense_E1451A exm34561 1 26658011 [A/G] NM_001039775 AIM1L EXON Missense_T1428I exm2263818 1 26659503 [A/C] NM_001039775 AIM1L Silent exm34583 1 26663362 [T/C] NM_001039775 AIM1L EXON Missense_S1294N exm34584 1 26663416 [T/C] NM_001039775 AIM1L EXON Missense_G1276D exm34585 1 26663417 [T/C] NM_001039775 AIM1L EXON Missense_G1276S exm34590 1 26663749 [A/G] NM_001039775 AIM1L EXON Missense_R1256W exm34593 1 26663842 [A/G] NM_001039775 AIM1L EXON Missense_R1225W exm34600 1 26664113 [T/C] NM_001039775 AIM1L EXON Missense_R1187Q exm34614 1 26664907 [A/C] NM_001039775 AIM1L EXON Missense_Y1136D exm34617 1 26664968 [T/C] NM_001039775 AIM1L EXON Synonymous_L1115L exm34625 1 26665873 [G/C] NM_001039775 AIM1L EXON Missense_K1084N exm34630 1 26669273 [G/C] NM_001039775 AIM1L EXON Missense_G1059A exm1783186 1 26669607 [T/C] NM_001039775 AIM1L EXON Missense_E1002G exm34638 1 26670444 [T/G] NM_001039775 AIM1L EXON Missense_S902Y exm34640 1 26670609 [T/C] NM_001039775 AIM1L EXON Missense_R847H exm34641 1 26670656 [A/C] NM_001039775 AIM1L EXON Missense_E831D exm34644 1 26670781 [A/G] NM_001039775 AIM1L EXON Missense_R790C exm34648 1 26670948 [A/G] NM_001039775 AIM1L EXON Missense_T734M exm2233057 1 26671002 [T/G] NM_001039775 AIM1L EXON Missense_S716Y exm2233058 1 26671006 [A/C] NM_001039775 AIM1L EXON Missense_V715L exm34651 1 26671084 [T/G] NM_001039775 AIM1L EXON Missense_P689T exm34652 1 26671144 [T/C] NM_001039775 AIM1L EXON Missense_I669V exm34653 1 26671248 [A/G] NM_001039775 AIM1L EXON Missense_V634A exm34664 1 26671533 [T/G] NM_001039775 AIM1L EXON Missense_D539A exm34680 1 26671920 [G/C] NM_001039775 AIM1L EXON Missense_S410T exm34689 1 26672187 [A/G] NM_001039775 AIM1L EXON Missense_P321L exm34692 1 26672265 [A/C] NM_001039775 AIM1L EXON Missense_G295V exm34697 1 26672364 [T/C] NM_001039775 AIM1L EXON Missense_R262K exm34720 1 26672838 [A/G] NM_001039775 AIM1L EXON Missense_P104L exm34732 1 26673108 [T/C] NM_001039775 AIM1L EXON Missense_R14Q exm1783328 1 26688125 [T/C] NM_001114759,NM_173574 ZNF683,ZNF683 EXON Silent,Silent exm34735 1 26688173 [A/G] NM_001114759,NM_173574 ZNF683,ZNF683 EXON Missense_P495L,Missense_P495L exm34739 1 26688208 [T/A] NM_001114759,NM_173574 ZNF683,ZNF683 EXON Missense_K483N,Missense_K483N exm34751 1 26688381 [A/G] NM_001114759,NM_173574 ZNF683,ZNF683 EXON Missense_R426W,Missense_R426W exm34759 1 26688464 [T/C] NM_001114759,NM_173574 ZNF683,ZNF683 EXON Missense_R398H,Missense_R398H exm34778 1 26691174 [A/C] NM_001114759,NM_173574 ZNF683,ZNF683 EXON Missense_R288L,Missense_R288L exm34781 1 26691207 [T/C] NM_001114759,NM_173574 ZNF683,ZNF683 EXON Missense_G277E,Missense_G277E exm34784 1 26691261 [A/G] NM_001114759,NM_173574 ZNF683,ZNF683 EXON Missense_A259V,Missense_A259V exm34794 1 26691310 [C/G] NM_001114759,NM_173574 ZNF683,ZNF683 EXON Missense_L243V,Missense_L243V exm34796 1 26691351 [T/G] NM_001114759,NM_173574 ZNF683,ZNF683 EXON Missense_P229H,Missense_P229H exm34800 1 26691445 [A/G] NM_001114759,NM_173574 ZNF683,ZNF683 EXON Missense_L198F,Missense_L198F exm34801 1 26691448 [T/G] NM_001114759,NM_173574 ZNF683,ZNF683 EXON Missense_P197T,Missense_P197T exm34802 1 26691466 [T/C] NM_001114759,NM_173574 ZNF683,ZNF683 EXON Missense_A191T,Missense_A191T exm34807 1 26691637 [C/G] NM_001114759,NM_173574 ZNF683,ZNF683 EXON Missense_L134V,Missense_L134V exm34815 1 26694118 [T/G] NM_001114759,NM_173574 ZNF683,ZNF683 EXON Missense_D95E,Missense_D95E exm34822 1 26694245 [T/C] NM_001114759,NM_173574 ZNF683,ZNF683 EXON Missense_H53R,Missense_H53R exm34824 1 26694260 [T/C] NM_001114759,NM_173574 ZNF683,ZNF683 EXON Missense_D48G,Missense_D48G exm34827 1 26694968 [T/C] NM_001114759,NM_173574 ZNF683,ZNF683 EXON Missense_Q32R,Missense_Q32R exm34832 1 26694998 [A/C] NM_001114759,NM_173574 ZNF683,ZNF683 EXON Missense_G22V,Missense_G22V exm2260105 1 26722384 [A/G] exm-rs7532866 1 26741544 [A/G] NM_024674 LIN28A Silent exm34895 1 26752885 [T/C] NM_024674 LIN28A EXON Missense_T189I exm34904 1 26764719 [A/G] NM_001243564,NM_205861,NM_001243565,NM_024887 DHDDS,DHDDS,DHDDS,DHDDS EXON Missense_K42E,Missense_K42E,Missense_K42E,Missense_K42E exm34905 1 26764735 [A/G] NM_001243564,NM_205861,NM_001243565,NM_024887 DHDDS,DHDDS,DHDDS,DHDDS EXON Missense_R47Q,Missense_R47Q,Missense_R47Q,Missense_R47Q exm1783585 1 26774050 [A/G] NM_001243564,NM_205861,NM_001243565,NM_024887 DHDDS,DHDDS,DHDDS,DHDDS EXON Silent,Synonymous_K147K,Synonymous_K108K,Synonymous_K147K exm34965 1 26786627 [A/G] NM_001243564,NM_205861,NM_001243565,NM_024887 DHDDS,DHDDS,DHDDS,DHDDS EXON Missense_V219M,Missense_V253M,Missense_V214M,Missense_V253M exm34971 1 26795528 [T/C] NM_001243564,NM_205861,NM_001243565,NM_024887 DHDDS,DHDDS,DHDDS,DHDDS EXON Missense_S269L,Missense_S303L,Missense_S264L,Missense_S304L exm35011 1 26863453 [T/C] NM_002953 RPS6KA1 EXON Missense_P34L exm35019 1 26872452 [A/G] NM_002953,NM_001006665 RPS6KA1,RPS6KA1 EXON Silent,Missense_R21G exm35062 1 26883511 [A/C] NM_002953,NM_001006665 RPS6KA1,RPS6KA1 EXON Missense_K335T,Missense_K344T exm35065 1 26883580 [A/G] NM_002953,NM_001006665 RPS6KA1,RPS6KA1 EXON Missense_R358H,Missense_R367H exm35074 1 26885366 [A/G] NM_002953,NM_001006665 RPS6KA1,RPS6KA1 EXON Missense_G385S,Missense_G394S exm2251154 1 26888016 [T/C] NM_002953,NM_001006665 RPS6KA1,RPS6KA1 EXON Synonymous_H484H,Synonymous_H493H exm35088 1 26888092 [T/C] NM_002953,NM_001006665 RPS6KA1,RPS6KA1 EXON Missense_R510W,Missense_R519W exm35099 1 26898393 [T/G] NM_002953,NM_001006665 RPS6KA1,RPS6KA1 EXON Missense_I602M,Missense_I611M exm2251156 1 26909765 [T/C] exm35140 1 27056179 [A/C] NM_139135,NM_006015 ARID1A,ARID1A EXON Missense_P392H,Missense_P392H exm35174 1 27087917 [A/G] NM_139135,NM_006015 ARID1A,ARID1A EXON Missense_S735N,Missense_S735N exm35181 1 27088784 [T/C] NM_139135,NM_006015 ARID1A,ARID1A EXON Missense_P798L,Missense_P798L exm35196 1 27089659 [T/C] NM_139135,NM_006015 ARID1A,ARID1A EXON Missense_M872T,Missense_M872T exm35200 1 27089712 [A/G] NM_139135,NM_006015 ARID1A,ARID1A EXON Missense_M890V,Missense_M890V exm35201 1 27089742 [A/G] NM_139135,NM_006015 ARID1A,ARID1A EXON Missense_A900T,Missense_A900T exm35204 1 27092729 [A/G] NM_139135,NM_006015 ARID1A,ARID1A EXON Missense_N917S,Missense_N917S exm35209 1 27092804 [A/G] NM_139135,NM_006015 ARID1A,ARID1A EXON Missense_N942S,Missense_N942S exm2233076 1 27094338 [A/G] NM_139135,NM_006015 ARID1A,ARID1A EXON Missense_G1016S,Missense_G1016S exm35217 1 27097653 [A/G] NM_139135,NM_006015 ARID1A,ARID1A EXON Missense_N1081S,Missense_N1081S exm35219 1 27098992 [A/G] NM_139135,NM_006015 ARID1A,ARID1A EXON Synonymous_A1136A,Synonymous_A1136A exm2233077 1 27099881 [A/G] NM_139135,NM_006015 ARID1A,ARID1A EXON Missense_G1254S,Missense_G1254S exm35244 1 27100077 [T/G] NM_139135,NM_006015 ARID1A,ARID1A EXON Missense_E1291D,Missense_E1291D exm35249 1 27100142 [A/G] NM_139135,NM_006015 ARID1A,ARID1A EXON Missense_N1313S,Missense_N1313S exm35277 1 27101282 [A/G] NM_139135,NM_006015 ARID1A,ARID1A EXON Silent,Missense_A1522T exm2233080 1 27101469 [A/G] NM_139135,NM_006015 ARID1A,ARID1A EXON Silent,Missense_Q1584R exm2251168 1 27101584 [G/C] NM_139135,NM_006015 ARID1A,ARID1A EXON Synonymous_A1405A,Synonymous_A1622A exm35293 1 27101597 [C/G] NM_139135,NM_006015 ARID1A,ARID1A EXON Missense_P1410A,Missense_P1627A exm35305 1 27102188 [A/G] NM_139135,NM_006015 ARID1A,ARID1A EXON Missense_N1488S,Missense_N1705S exm35308 1 27105655 [T/C] NM_139135,NM_006015 ARID1A,ARID1A EXON Missense_P1539S,Missense_P1756S exm1784676 1 27105700 [T/C] NM_139135,NM_006015 ARID1A,ARID1A EXON Missense_P1554S,Missense_P1771S exm35311 1 27105725 [A/G] NM_139135,NM_006015 ARID1A,ARID1A EXON Missense_E1562G,Missense_E1779G exm2233081 1 27105838 [A/G] NM_139135,NM_006015 ARID1A,ARID1A EXON Missense_V1600I,Missense_V1817I exm35318 1 27105880 [G/C] NM_139135,NM_006015 ARID1A,ARID1A EXON Missense_L1614V,Missense_L1831V exm2233082 1 27106004 [T/C] NM_139135,NM_006015 ARID1A,ARID1A EXON Missense_A1655V,Missense_A1872V exm35328 1 27106106 [A/G] NM_139135,NM_006015 ARID1A,ARID1A EXON Missense_R1689Q,Missense_R1906Q exm35331 1 27106168 [C/G] NM_139135,NM_006015 ARID1A,ARID1A EXON Missense_A1710P,Missense_A1927P exm35333 1 27106333 [A/G] NM_139135,NM_006015 ARID1A,ARID1A EXON Missense_V1765I,Missense_V1982I exm35369 1 27120619 [A/G] NM_017837,NM_001202554 PIGV,PIGV EXON Missense_I32V,Missense_I32V exm35370 1 27120626 [T/C] NM_017837,NM_001202554 PIGV,PIGV EXON Missense_P34L,Missense_P34L exm35373 1 27120671 [A/C] NM_017837,NM_001202554 PIGV,PIGV EXON Nonsense_S49X,Nonsense_S49X exm35378 1 27120874 [A/G] NM_017837,NM_001202554 PIGV,PIGV EXON Missense_I117V,Missense_I117V exm35385 1 27120998 [A/G] NM_017837,NM_001202554 PIGV,PIGV EXON Missense_S158N,Missense_S158N exm35401 1 27121505 [A/G] NM_017837,NM_001202554 PIGV,PIGV EXON Missense_N327S,Missense_N327S exm35405 1 27121571 [A/G] NM_017837,NM_001202554 PIGV,PIGV EXON Missense_H349R,Missense_H349R exm35411 1 27124130 [T/C] NM_017837,NM_001202554 PIGV,PIGV EXON Missense_P426L,Missense_P426L exm35417 1 27124222 [T/C] NM_017837,NM_001202554 PIGV,PIGV EXON Missense_L457F,Missense_L457F exm-rs12748152 1 27138393 [T/C] exm35442 1 27176902 [A/G] NM_032283 ZDHHC18 EXON Missense_A253T exm35454 1 27177696 [A/G] NM_032283 ZDHHC18 EXON Missense_A304T exm35455 1 27177723 [A/G] NM_032283 ZDHHC18 Silent exm35457 1 27179274 [T/G] NM_032283 ZDHHC18 EXON Missense_G323C exm35465 1 27180248 [A/G] NM_032283 ZDHHC18 EXON Missense_D361N exm35479 1 27190149 [T/C] NM_006142 SFN EXON Missense_S149L exm1784809 1 27190186 [G/C] NM_006142 SFN EXON Missense_E161D exm35480 1 27190196 [T/A] NM_006142 SFN EXON Missense_T165S exm35496 1 27210667 [T/C] NM_018066 GPN2 EXON Missense_D282N exm35497 1 27210676 [T/C] NM_018066 GPN2 EXON Missense_M279V exm35504 1 27210762 [T/C] NM_018066 GPN2 EXON Missense_R250Q exm35509 1 27212513 [T/C] NM_018066 GPN2 EXON Missense_Q227R exm35511 1 27212526 [T/C] NM_018066 GPN2 EXON Missense_E223K exm35520 1 27215478 [T/C] NM_018066 GPN2 EXON Missense_E184K exm35525 1 27216194 [T/C] NM_018066 GPN2 EXON Missense_A132T exm35527 1 27216278 [T/C] NM_018066 GPN2 EXON Missense_G104S exm1785011 1 27219004 [T/C] NM_022078 GPATCH3 EXON Missense_R420Q exm1785012 1 27219019 [T/C] NM_022078 GPATCH3 EXON Missense_R415Q exm35569 1 27219192 [T/C] NM_022078 GPATCH3 EXON Missense_R401H exm35570 1 27219196 [T/C] NM_022078 GPATCH3 EXON Missense_E400K exm35579 1 27220834 [T/C] NM_022078 GPATCH3 EXON Missense_R315Q exm35580 1 27220844 [T/C] NM_022078 GPATCH3 EXON Missense_G312R exm35582 1 27220864 [A/G] NM_022078 GPATCH3 EXON Missense_A305V exm35583 1 27220873 [A/C] NM_022078 GPATCH3 EXON Missense_R302L exm35585 1 27223792 [T/C] NM_022078 GPATCH3 EXON Synonymous_E292E exm2233087 1 27223826 [T/C] NM_022078 GPATCH3 EXON Missense_G281E exm35591 1 27223967 [T/C] NM_022078 GPATCH3 EXON Missense_N234S exm35593 1 27223977 [A/G] NM_022078 GPATCH3 EXON Missense_R231C exm35601 1 27224070 [A/G] NM_022078 GPATCH3 EXON Missense_R200W exm35603 1 27224123 [A/G] NM_022078 GPATCH3 EXON Missense_P182L exm35606 1 27224190 [A/G] NM_022078 GPATCH3 EXON Missense_R160W exm35611 1 27226569 [A/G] NM_022078 GPATCH3 EXON Missense_S122L exm35620 1 27226797 [C/G] NM_022078 GPATCH3 EXON Missense_C46S exm35621 1 27226817 [G/C] NM_022078 GPATCH3 EXON Missense_E39D exm35622 1 27226830 [T/C] NM_022078 GPATCH3 EXON Missense_Q35R exm35628 1 27226912 [A/C] NM_022078 GPATCH3 EXON Nonsense_E8X exm35633 1 27238451 [A/G] NM_021969 NR0B2 EXON Missense_T220M exm1785102 1 27238544 [T/C] NM_021969 NR0B2 EXON Missense_G189E exm35641 1 27238557 [T/C] NM_021969 NR0B2 EXON Missense_A185T exm35644 1 27239920 [G/C] NM_021969 NR0B2 EXON Missense_G171A exm35648 1 27239959 [T/C] NM_021969 NR0B2 EXON Missense_S158N exm35658 1 27240089 [A/G] NM_021969 NR0B2 EXON Missense_P115S exm35664 1 27240262 [T/C] NM_021969 NR0B2 EXON Missense_R57Q exm35665 1 27240272 [A/G] NM_021969 NR0B2 EXON Missense_R54C exm35668 1 27240298 [T/C] NM_021969 NR0B2 EXON Missense_R45Q exm35672 1 27240332 [C/G] NM_021969 NR0B2 EXON Missense_R34G exm35673 1 27240419 [C/G] NM_021969 NR0B2 EXON Missense_Q5E exm35682 1 27250580 [G/C] NM_006600 NUDC EXON Missense_L28V exm1785175 1 27267996 [C/G] NM_006600 NUDC EXON Missense_R70G exm35688 1 27267997 [A/G] NM_006600 NUDC EXON Missense_R70Q exm2251177 1 27268282 [T/C] NM_006600 NUDC EXON Synonymous_N134N exm35700 1 27268299 [T/C] NM_006600 NUDC EXON Missense_P140L exm35711 1 27269429 [A/G] NM_006600 NUDC EXON Missense_R205Q exm35724 1 27272638 [T/C] NM_006600 NUDC EXON Missense_P321L exm35728 1 27276604 [T/C] NM_152365 C1orf172 EXON Missense_D385N exm35731 1 27276619 [A/G] NM_152365 C1orf172 EXON Missense_S380P exm35738 1 27277916 [T/C] NM_152365 C1orf172 EXON Missense_R319H exm35746 1 27278215 [T/G] NM_152365 C1orf172 EXON Missense_F219L exm35757 1 27278306 [T/C] NM_152365 C1orf172 EXON Missense_K189R exm35762 1 27278439 [A/G] NM_152365 C1orf172 EXON Missense_R145W exm35768 1 27278552 [T/C] NM_152365 C1orf172 EXON Missense_R107Q exm35769 1 27278553 [A/G] NM_152365 C1orf172 EXON Missense_R107W exm35771 1 27278570 [T/C] NM_152365 C1orf172 EXON Missense_R101H exm35772 1 27278573 [T/C] NM_152365 C1orf172 EXON Missense_Q100R exm35777 1 27278612 [T/C] NM_152365 C1orf172 EXON Missense_R87Q exm35778 1 27278613 [A/G] NM_152365 C1orf172 EXON Missense_R87W exm35780 1 27278672 [A/G] NM_152365 C1orf172 EXON Missense_P67L exm35789 1 27278819 [A/G] NM_152365 C1orf172 EXON Missense_P18L exm35805 1 27332466 [T/C] NM_052943 FAM46B EXON Missense_H416R exm2251179 1 27332504 [T/G] NM_052943 FAM46B EXON Synonymous_V403V exm35815 1 27332637 [T/G] NM_052943 FAM46B EXON Missense_N359T exm35816 1 27332670 [T/C] NM_052943 FAM46B EXON Missense_R348Q exm35817 1 27332701 [A/G] NM_052943 FAM46B EXON Missense_R338C exm35831 1 27332983 [T/C] NM_052943 FAM46B EXON Missense_T244A exm35842 1 27333229 [T/C] NM_052943 FAM46B EXON Missense_A162T exm35846 1 27333309 [T/C] NM_052943 FAM46B EXON Missense_R135H exm35848 1 27333409 [C/G] NM_052943 FAM46B EXON Missense_H102D exm35863 1 27426875 [T/C] NR_046474,NM_003047 SLC9A1,SLC9A1 EXON Silent,Missense_I791V exm35867 1 27426971 [T/C] NR_046474,NM_003047 SLC9A1,SLC9A1 EXON Silent,Missense_D759N exm35869 1 27426974 [T/C] NR_046474,NM_003047 SLC9A1,SLC9A1 EXON Silent,Missense_D758N exm35872 1 27427009 [T/C] NR_046474,NM_003047 SLC9A1,SLC9A1 EXON Silent,Missense_R746Q exm35895 1 27428621 [T/C] NR_046474,NM_003047 SLC9A1,SLC9A1 EXON Silent,Synonymous_Q607Q exm2251185 1 27428971 [C/G] NR_046474,NM_003047 SLC9A1,SLC9A1 EXON Silent,Synonymous_A575A exm35939 1 27436163 [A/G] NR_046474,NM_003047 SLC9A1,SLC9A1 EXON Silent,Missense_L307F exm35942 1 27436223 [T/C] NR_046474,NM_003047 SLC9A1,SLC9A1 EXON Silent,Missense_G287S exm35968 1 27480600 [A/G] NR_046474,NM_003047 SLC9A1,SLC9A1 EXON Silent,Missense_H76Y exm35980 1 27589698 [A/G] NM_015023,NM_001276252 WDTC1,WDTC1 EXON Missense_R35Q,Missense_R35Q exm35994 1 27614187 [A/G] NM_015023,NM_001276252 WDTC1,WDTC1 EXON Missense_R105H,Missense_R105H exm36012 1 27621022 [A/C] NM_015023,NM_001276252 WDTC1,WDTC1 EXON Missense_L259I,Missense_L259I exm36016 1 27622832 [T/A] NM_015023,NM_001276252 WDTC1,WDTC1 EXON Missense_L297M,Missense_L297M exm36041 1 27627950 [G/C] NM_015023,NM_001276252 WDTC1,WDTC1 EXON Missense_G488A,Missense_G489A exm36048 1 27630135 [A/G] NM_015023,NM_001276252 WDTC1,WDTC1 EXON Missense_G497S,Missense_G498S exm36051 1 27630147 [T/C] NM_015023,NM_001276252 WDTC1,WDTC1 EXON Missense_R501C,Missense_R502C exm36065 1 27632690 [C/G] NM_015023,NM_001276252 WDTC1,WDTC1 EXON Missense_T616R,Missense_T617R exm36076 1 27648771 [A/C] NR_037580,NR_037577,NM_032125,NR_037576 TMEM222,TMEM222,TMEM222,TMEM222 EXON Silent,Silent,Missense_T28K,Silent exm36078 1 27648785 [A/G] NR_037580,NR_037577,NM_032125,NR_037576 TMEM222,TMEM222,TMEM222,TMEM222 EXON Silent,Silent,Missense_D33N,Silent exm36086 1 27660486 [A/G] NR_037580,NR_037577,NM_032125,NR_037576 TMEM222,TMEM222,TMEM222,TMEM222 EXON Silent,Silent,Missense_G117R,Silent exm36095 1 27660742 [T/G] NR_037580,NR_037577,NM_032125,NR_037576 TMEM222,TMEM222,TMEM222,TMEM222 EXON Silent,Silent,Missense_F170C,Silent exm36097 1 27660768 [A/G] NR_037580,NR_037577,NM_032125,NR_037576 TMEM222,TMEM222,TMEM222,TMEM222 EXON Silent,Silent,Missense_V179I,Silent exm36106 1 27661931 [A/G] NR_037580,NR_037577,NM_032125,NR_037576 TMEM222,TMEM222,TMEM222,TMEM222 EXON Silent,Silent,Missense_V201I,Silent exm36113 1 27671986 [A/G] NM_001193308,NM_032872 SYTL1,SYTL1 EXON Missense_R54H,Missense_R54H exm36120 1 27673983 [A/G] NM_001193308,NM_032872 SYTL1,SYTL1 EXON Missense_R88H,Missense_R88H exm36121 1 27674003 [A/G] NM_001193308,NM_032872 SYTL1,SYTL1 EXON Missense_A95T,Missense_A95T exm1785769 1 27674319 [A/G] NM_001193308,NM_032872 SYTL1,SYTL1 EXON Missense_D121N,Missense_D121N exm36133 1 27674334 [A/G] NM_001193308,NM_032872 SYTL1,SYTL1 EXON Missense_A126T,Missense_A126T exm36135 1 27674366 [T/G] NM_001193308,NM_032872 SYTL1,SYTL1 EXON Missense_E136D,Missense_E136D exm1785790 1 27677375 [A/G] NM_001193308,NM_032872 SYTL1,SYTL1 EXON Missense_E366K,Missense_E354K exm36170 1 27677409 [A/G] NM_001193308,NM_032872 SYTL1,SYTL1 EXON Missense_G377D,Missense_G365D exm36182 1 27679778 [A/G] NM_001193308,NM_032872 SYTL1,SYTL1 EXON Missense_V450M,Missense_V438M exm2273628 1 27679805 [T/C] NM_001193308,NM_032872 SYTL1,SYTL1 EXON Missense_R459C,Missense_R447C exm36189 1 27679890 [T/C] NM_001193308,NM_032872 SYTL1,SYTL1 EXON Missense_L487P,Missense_L475P exm36193 1 27679979 [A/G] NM_001193308,NM_032872 SYTL1,SYTL1 EXON Missense_G517S,Missense_G505S exm36225 1 27682530 [G/C] NM_004672 MAP3K6 EXON Missense_G1233A exm36238 1 27683127 [A/C] NM_004672 MAP3K6 EXON Missense_A1160S exm36243 1 27683180 [T/C] NM_004672 MAP3K6 EXON Missense_Q1142R exm36261 1 27684006 [T/C] NM_004672 MAP3K6 EXON Missense_H1048R exm36267 1 27684213 [T/C] NM_004672 MAP3K6 EXON Missense_K1024E exm36273 1 27684329 [A/G] NM_004672 MAP3K6 EXON Missense_P985L exm36274 1 27684338 [C/G] NM_004672 MAP3K6 EXON Missense_P982R exm1785842 1 27684715 [T/G] NM_004672 MAP3K6 EXON Missense_P958T exm36282 1 27684750 [A/G] NM_004672 MAP3K6 EXON Missense_P946L exm36284 1 27684772 [T/C] NM_004672 MAP3K6 EXON Missense_T939A exm36292 1 27684948 [T/C] NM_004672 MAP3K6 EXON Missense_R913H exm36323 1 27686464 [T/C] NM_004672 MAP3K6 EXON Missense_R735Q exm36334 1 27687248 [G/C] NM_004672 MAP3K6 EXON Missense_R668G exm36338 1 27687309 [G/C] NM_004672 MAP3K6 EXON Missense_E647D exm36344 1 27687466 [T/G] NM_004672 MAP3K6 EXON Missense_N622K exm36363 1 27688031 [C/G] NM_004672 MAP3K6 EXON Missense_L556V exm36370 1 27688279 [A/G] NM_004672 MAP3K6 EXON Missense_R499C exm36377 1 27688593 [T/A] NM_004672 MAP3K6 EXON Missense_N468K exm36378 1 27688633 [A/G] NM_004672 MAP3K6 EXON Missense_T455I exm1785874 1 27688717 [A/G] NM_004672 MAP3K6 EXON Missense_A427V exm36384 1 27688743 [T/C] NM_004672 MAP3K6 Silent exm36387 1 27689225 [T/C] NM_004672 MAP3K6 EXON Missense_V388I exm36390 1 27689360 [T/C] NM_004672 MAP3K6 EXON Missense_R375Q exm36391 1 27689370 [T/C] NM_004672 MAP3K6 EXON Missense_A372T exm36394 1 27689397 [T/C] NM_004672 MAP3K6 EXON Missense_M363V exm36396 1 27689438 [A/G] NM_004672 MAP3K6 EXON Missense_A349V exm2251194 1 27689476 [A/C] NM_004672 MAP3K6 EXON Synonymous_S336S exm36405 1 27690032 [A/G] NM_004672 MAP3K6 EXON Missense_S291L exm36411 1 27690482 [A/G] NM_004672 MAP3K6 EXON Missense_R264W exm36420 1 27690770 [A/C] NM_004672 MAP3K6 EXON Missense_V207G exm36422 1 27690792 [A/C] NM_004672 MAP3K6 EXON Missense_D200Y exm36427 1 27691274 [T/C] NM_004672 MAP3K6 EXON Missense_Q157R exm36447 1 27695744 [A/G] NM_003665,NM_173452 FCN3,FCN3 EXON Missense_R295W,Missense_R284W exm36450 1 27695767 [A/G] NM_003665,NM_173452 FCN3,FCN3 EXON Missense_V287A,Missense_V276A exm36466 1 27697167 [A/G] NM_003665,NM_173452 FCN3,FCN3 EXON Missense_A193V,Missense_A182V exm36472 1 27697359 [C/G] NM_003665,NM_173452 FCN3,FCN3 EXON Missense_E166D,Missense_E155D exm36475 1 27697425 [G/C] NM_003665,NM_173452 FCN3,FCN3 EXON Missense_F144L,Missense_F133L exm36476 1 27697444 [A/T] NM_003665,NM_173452 FCN3,FCN3 EXON Missense_D138V,Missense_D127V exm36480 1 27699626 [T/C] NM_003665,NM_173452 FCN3,FCN3 Silent,Silent exm36484 1 27699644 [T/C] NM_003665,NM_173452 FCN3,FCN3 EXON Missense_E126K,Missense_E115K exm36486 1 27699647 [T/C] NM_003665,NM_173452 FCN3,FCN3 EXON Missense_T125A,Missense_T114A exm36491 1 27699753 [A/G] NM_003665,NM_173452 FCN3,FCN3 EXON Synonymous_G89G,Synonymous_G78G exm36497 1 27699990 [A/C] NM_003665,NM_173452 FCN3,FCN3 EXON Missense_R85L,Silent exm36498 1 27699991 [A/G] NM_003665,NM_173452 FCN3,FCN3 EXON Missense_R85W,Silent exm36500 1 27700455 [T/C] NM_003665,NM_173452 FCN3,FCN3 Silent,Silent exm36506 1 27700924 [T/G] NM_003665,NM_173452 FCN3,FCN3 EXON Missense_A37D,Missense_A37D exm36532 1 27708996 [T/C] NM_207397 CD164L2 EXON Missense_E84K exm36534 1 27709020 [T/C] NM_207397 CD164L2 EXON Missense_M76V exm36536 1 27709044 [T/C] NM_207397 CD164L2 EXON Missense_R68G exm36541 1 27709112 [T/C] NM_207397 CD164L2 EXON Missense_N45S exm36546 1 27709659 [A/G] NM_207397 CD164L2 EXON Missense_A24V exm36551 1 27720382 [G/C] NM_005281 GPR3 EXON Missense_A27G exm36577 1 27720967 [A/G] NM_005281 GPR3 EXON Missense_R222H exm36580 1 27721035 [A/G] NM_005281 GPR3 EXON Missense_G245S exm36592 1 27721276 [A/G] NM_005281 GPR3 EXON Missense_R325H exm36614 1 27736685 [T/G] NM_001201404,NM_006990 WASF2,WASF2 EXON Silent,Missense_N280K exm36622 1 27739150 [A/G] NM_001201404,NM_006990 WASF2,WASF2 EXON Missense_P247L,Missense_P247L exm36651 1 27873895 [T/C] NM_001029882 AHDC1 EXON Missense_G1578S exm36661 1 27874024 [T/C] NM_001029882 AHDC1 EXON Missense_A1535T exm36662 1 27874042 [A/G] NM_001029882 AHDC1 EXON Missense_R1529C exm36696 1 27874627 [T/C] NM_001029882 AHDC1 EXON Missense_G1334S exm36707 1 27874861 [T/C] NM_001029882 AHDC1 EXON Missense_A1256T exm36715 1 27875055 [T/C] NM_001029882 AHDC1 EXON Missense_S1191N exm36719 1 27875208 [T/C] NM_001029882 AHDC1 EXON Missense_N1140S exm36724 1 27875301 [A/G] NM_001029882 AHDC1 EXON Missense_P1109L exm36726 1 27875319 [A/G] NM_001029882 AHDC1 EXON Missense_A1103V exm36744 1 27875694 [T/C] NM_001029882 AHDC1 EXON Missense_Q978R exm36747 1 27875800 [T/G] NM_001029882 AHDC1 EXON Missense_T943P exm36748 1 27875824 [T/C] NM_001029882 AHDC1 EXON Missense_A935T exm36765 1 27876189 [T/C] NM_001029882 AHDC1 EXON Missense_R813H exm36804 1 27877117 [T/C] NM_001029882 AHDC1 EXON Missense_V504M exm36808 1 27877216 [T/C] NM_001029882 AHDC1 EXON Missense_V471M exm36821 1 27877471 [T/G] NM_001029882 AHDC1 EXON Missense_R386S exm36837 1 27877840 [T/C] NM_001029882 AHDC1 EXON Missense_A263T exm36838 1 27877845 [A/G] NM_001029882 AHDC1 EXON Missense_A261V exm36857 1 27878157 [A/G] NM_001029882 AHDC1 EXON Missense_A157V exm2260122 1 27931698 [A/G] exm36878 1 27939442 [A/G] NM_001042747,NM_005248,NM_001042729 FGR,FGR,FGR EXON Missense_P525S,Missense_P525S,Missense_P525S exm1786266 1 27939528 [T/C] NM_001042747,NM_005248,NM_001042729 FGR,FGR,FGR EXON Missense_R496H,Missense_R496H,Missense_R496H exm2251203 1 27939581 [T/C] NM_001042747,NM_005248,NM_001042729 FGR,FGR,FGR EXON Synonymous_P478P,Synonymous_P478P,Synonymous_P478P exm36907 1 27942346 [T/A] NM_001042747,NM_005248,NM_001042729 FGR,FGR,FGR EXON Missense_D231V,Missense_D231V,Missense_D231V exm2233112 1 27948108 [C/G] NM_001042747,NM_005248,NM_001042729 FGR,FGR,FGR EXON Missense_S130R,Missense_S130R,Missense_S130R exm2276805 1 27949553 [A/G] NM_001042747,NM_005248,NM_001042729 FGR,FGR,FGR EXON Missense_T110I,Missense_T110I,Missense_T110I exm36942 1 27992953 [A/G] NM_002038,NM_022872,NM_022873 IFI6,IFI6,IFI6 EXON Missense_I111T,Missense_I115T,Missense_I119T exm36985 1 28060600 [A/G] NM_001143915,NM_001143913,NM_152660,NM_001143914,NM_001143912 FAM76A,FAM76A,FAM76A,FAM76A,FAM76A EXON Silent,Missense_R121H,Missense_R87H,Missense_R87H,Missense_R121H exm1786473 1 28071229 [A/G] NM_001143915,NM_001143913,NM_152660,NM_001143914,NM_001143912 FAM76A,FAM76A,FAM76A,FAM76A,FAM76A EXON Missense_K89R,Missense_K174R,Missense_K140R,Missense_K140R,Missense_K174R exm36995 1 28075662 [A/G] NM_001143915,NM_001143913,NM_152660,NM_001143914,NM_001143912 FAM76A,FAM76A,FAM76A,FAM76A,FAM76A EXON Silent,Silent,Missense_D199G,Silent,Missense_D233G exm37000 1 28087052 [T/G] NM_001143915,NM_001143913,NM_152660,NM_001143914,NM_001143912 FAM76A,FAM76A,FAM76A,FAM76A,FAM76A EXON Missense_S215I,Missense_S300I,Missense_S295I,Missense_S266I,Missense_S329I exm37008 1 28128190 [A/G] NM_177424 STX12 EXON Missense_R97H exm37010 1 28128318 [T/C] NM_177424 STX12 EXON Missense_R140C exm37022 1 28146199 [A/G] NM_177424 STX12 EXON Missense_V230I exm1786679 1 28176716 [G/C] NM_014110,NM_138558,NM_002713 PPP1R8,PPP1R8,PPP1R8 EXON Missense_S272T,Missense_S130T,Missense_S48T exm37073 1 28176777 [A/G] NM_014110,NM_138558,NM_002713 PPP1R8,PPP1R8,PPP1R8 EXON Missense_M292I,Missense_M150I,Missense_M68I exm37101 1 28206250 [T/C] NM_004848,NM_001105556,NM_001039477 THEMIS2,THEMIS2,THEMIS2 EXON Missense_F111L,Missense_F111L,Silent exm37104 1 28206295 [A/G] NM_004848,NM_001105556,NM_001039477 THEMIS2,THEMIS2,THEMIS2 EXON Missense_E126K,Missense_E126K,Silent exm37112 1 28206440 [T/C] NM_004848,NM_001105556,NM_001039477 THEMIS2,THEMIS2,THEMIS2 EXON Missense_A174V,Missense_A174V,Silent exm37115 1 28206533 [A/G] NM_004848,NM_001105556,NM_001039477 THEMIS2,THEMIS2,THEMIS2 EXON Missense_R205Q,Missense_R205Q,Silent exm37124 1 28208572 [T/C] NM_004848,NM_001105556,NM_001039477 THEMIS2,THEMIS2,THEMIS2 EXON Silent,Missense_P246L,Silent exm37125 1 28208649 [T/C] NM_004848,NM_001105556,NM_001039477 THEMIS2,THEMIS2,THEMIS2 EXON Silent,Missense_R272C,Silent exm37129 1 28208727 [T/C] NM_004848,NM_001105556,NM_001039477 THEMIS2,THEMIS2,THEMIS2 EXON Silent,Missense_P298S,Silent exm37131 1 28208829 [T/C] NM_004848,NM_001105556,NM_001039477 THEMIS2,THEMIS2,THEMIS2 EXON Silent,Missense_P332S,Silent exm2233120 1 28208932 [T/C] NM_004848,NM_001105556,NM_001039477 THEMIS2,THEMIS2,THEMIS2 EXON Silent,Missense_T366M,Silent exm37154 1 28209366 [A/G] NM_004848,NM_001105556,NM_001039477 THEMIS2,THEMIS2,THEMIS2 EXON Silent,Missense_K511E,Silent exm37156 1 28209381 [T/C] NM_004848,NM_001105556,NM_001039477 THEMIS2,THEMIS2,THEMIS2 EXON Silent,Missense_P516S,Silent exm37162 1 28209484 [T/C] NM_004848,NM_001105556,NM_001039477 THEMIS2,THEMIS2,THEMIS2 EXON Silent,Missense_P550L,Silent exm37166 1 28211835 [T/C] NM_004848,NM_001105556,NM_001039477 THEMIS2,THEMIS2,THEMIS2 EXON Missense_R226C,Synonymous_H583H,Missense_R89C exm37167 1 28211859 [A/G] NM_004848,NM_001105556,NM_001039477 THEMIS2,THEMIS2,THEMIS2 EXON Missense_E234K,Synonymous_A591A,Missense_E97K exm37168 1 28211893 [A/G] NM_004848,NM_001105556,NM_001039477 THEMIS2,THEMIS2,THEMIS2 EXON Missense_Q245R,Missense_S603G,Missense_Q108R exm37170 1 28211920 [A/G] NM_004848,NM_001105556,NM_001039477 THEMIS2,THEMIS2,THEMIS2 EXON Missense_Q254R,Missense_R612G,Missense_Q117R exm37173 1 28212428 [A/G] NM_004848,NM_001105556,NM_001039477 THEMIS2,THEMIS2,THEMIS2 EXON Silent,Missense_I643V,Silent exm2268669 1 28218100 [T/C] NM_002946 RPA2 EXON Silent exm37198 1 28240593 [A/G] NM_002946 RPA2 EXON Missense_S33F exm37202 1 28240648 [T/C] NM_002946 RPA2 EXON Missense_G15R exm37229 1 28261756 [T/G] NM_001009568,NM_014474 SMPDL3B,SMPDL3B Silent,Silent exm37233 1 28271744 [A/G] NM_001009568,NM_014474 SMPDL3B,SMPDL3B EXON Synonymous_G21G,Synonymous_G21G exm37235 1 28271781 [A/G] NM_001009568,NM_014474 SMPDL3B,SMPDL3B EXON Missense_D34N,Missense_D34N exm37241 1 28271918 [C/G] NM_001009568,NM_014474 SMPDL3B,SMPDL3B EXON Missense_K79N,Missense_K79N exm37247 1 28279737 [T/C] NM_001009568,NM_014474 SMPDL3B,SMPDL3B EXON Missense_Y129H,Missense_Y129H exm37252 1 28279854 [A/G] NM_001009568,NM_014474 SMPDL3B,SMPDL3B EXON Missense_A168T,Missense_A168T exm37255 1 28280889 [T/C] NM_001009568,NM_014474 SMPDL3B,SMPDL3B EXON Missense_P181L,Missense_P181L exm37268 1 28282238 [T/C] NM_001009568,NM_014474 SMPDL3B,SMPDL3B EXON Missense_T245M,Missense_T245M exm37270 1 28282259 [A/G] NM_001009568,NM_014474 SMPDL3B,SMPDL3B EXON Missense_R252Q,Missense_R252Q exm1786840 1 28282271 [A/G] NM_001009568,NM_014474 SMPDL3B,SMPDL3B EXON Missense_N256S,Missense_N256S exm37273 1 28282292 [T/C] NM_001009568,NM_014474 SMPDL3B,SMPDL3B EXON Missense_V263A,Missense_V263A exm37275 1 28282307 [A/G] NM_001009568,NM_014474 SMPDL3B,SMPDL3B EXON Missense_R268H,Missense_R268H exm37276 1 28282309 [A/G] NM_001009568,NM_014474 SMPDL3B,SMPDL3B EXON Missense_V269I,Missense_V269I exm37277 1 28282330 [A/G] NM_001009568,NM_014474 SMPDL3B,SMPDL3B EXON Missense_G276R,Missense_G276R exm37296 1 28285123 [A/G] NM_014474 SMPDL3B EXON Missense_R381H exm37298 1 28285155 [T/C] NM_014474 SMPDL3B EXON Missense_Y392H exm37306 1 28285315 [T/G] NM_014474 SMPDL3B EXON Missense_M445R exm37323 1 28290139 [T/C] NM_018053 XKR8 EXON Missense_T142M exm37350 1 28293524 [A/G] NM_018053 XKR8 EXON Missense_R334Q exm37355 1 28293641 [A/G] NM_018053 XKR8 EXON Missense_R373H exm37376 1 28326481 [T/C] NM_001990 EYA3 EXON Missense_N358S exm37381 1 28337465 [T/C] NM_001990 EYA3 EXON Missense_E301G exm37390 1 28339732 [A/G] NM_001990 EYA3 EXON Missense_T220I exm37393 1 28343702 [T/C] NM_001990 EYA3 EXON Missense_N183S exm37398 1 28362075 [A/G] NM_001990 EYA3 EXON Missense_T114M exm37405 1 28369127 [T/G] NM_001990 EYA3 EXON Missense_P38T exm37406 1 28369158 [T/G] NM_001990 EYA3 EXON Missense_Q27H exm2264811 1 28432549 [A/G] exm37412 1 28476520 [T/C] NM_001164721,NM_000952,NM_001164723,NM_001164722 PTAFR,PTAFR,PTAFR,PTAFR EXON Missense_N338S,Missense_N338S,Missense_N338S,Missense_N338S exm37420 1 28476713 [T/C] NM_001164721,NM_000952,NM_001164723,NM_001164722 PTAFR,PTAFR,PTAFR,PTAFR EXON Missense_A274T,Missense_A274T,Missense_A274T,Missense_A274T exm37426 1 28476847 [T/C] NM_001164721,NM_000952,NM_001164723,NM_001164722 PTAFR,PTAFR,PTAFR,PTAFR EXON Missense_R229Q,Missense_R229Q,Missense_R229Q,Missense_R229Q exm37428 1 28476862 [T/G] NM_001164721,NM_000952,NM_001164723,NM_001164722 PTAFR,PTAFR,PTAFR,PTAFR EXON Missense_A224D,Missense_A224D,Missense_A224D,Missense_A224D exm37444 1 28477102 [A/G] NM_001164721,NM_000952,NM_001164723,NM_001164722 PTAFR,PTAFR,PTAFR,PTAFR EXON Missense_A144V,Missense_A144V,Missense_A144V,Missense_A144V exm37448 1 28477192 [T/C] NM_001164721,NM_000952,NM_001164723,NM_001164722 PTAFR,PTAFR,PTAFR,PTAFR EXON Missense_N114S,Missense_N114S,Missense_N114S,Missense_N114S exm37483 1 28559436 [G/C] NM_014280 DNAJC8 EXON Missense_S25T exm37485 1 28559479 [T/C] NM_014280 DNAJC8 EXON Missense_G11S exm37492 1 28562906 [A/G] NM_178190,NM_016311,NM_178191 ATPIF1,ATPIF1,ATPIF1 EXON Missense_R41Q,Missense_R41Q,Missense_R41Q exm37501 1 28564279 [A/G] NM_178190,NM_016311,NM_178191 ATPIF1,ATPIF1,ATPIF1 EXON Missense_R63G,Silent,Silent exm37512 1 28595709 [T/C] NM_031459 SESN2 EXON Missense_R36W exm37514 1 28595716 [A/G] NM_031459 SESN2 EXON Missense_R38Q exm37520 1 28595751 [A/G] NM_031459 SESN2 EXON Missense_V50M exm37526 1 28598287 [T/C] NM_031459 SESN2 EXON Missense_P87S exm37550 1 28599236 [T/C] NM_031459 SESN2 EXON Missense_P228S exm1787166 1 28599878 [T/G] NM_031459 SESN2 EXON Missense_S254A exm37555 1 28599897 [T/C] NM_031459 SESN2 EXON Missense_A260V exm37558 1 28599938 [T/C] NM_031459 SESN2 EXON Missense_R274W exm37564 1 28600574 [T/C] NM_031459 SESN2 EXON Missense_H309Y exm37565 1 28600607 [A/G] NM_031459 SESN2 EXON Missense_T320A exm37579 1 28605706 [A/G] NM_031459 SESN2 EXON Missense_R437Q exm37593 1 28660992 [A/G] NM_001127350,NM_017638 MED18,MED18 EXON Missense_M46I,Missense_M46I exm37598 1 28661074 [T/C] NM_001127350,NM_017638 MED18,MED18 EXON Missense_R74C,Missense_R74C exm37609 1 28661225 [A/G] NM_001127350,NM_017638 MED18,MED18 EXON Missense_R124H,Missense_R124H exm37611 1 28661263 [T/C] NM_001127350,NM_017638 MED18,MED18 EXON Missense_R137C,Missense_R137C exm37614 1 28661302 [T/C] NM_001127350,NM_017638 MED18,MED18 EXON Missense_R150C,Missense_R150C exm37619 1 28661383 [A/G] NM_001127350,NM_017638 MED18,MED18 EXON Missense_A177T,Missense_A177T exm1787246 1 28661422 [A/G] NM_001127350,NM_017638 MED18,MED18 EXON Missense_A190T,Missense_A190T exm37630 1 28785658 [A/C] NM_001048183,NM_023923 PHACTR4,PHACTR4 EXON Missense_T27P,Missense_T37P exm37631 1 28785665 [T/C] NM_001048183,NM_023923 PHACTR4,PHACTR4 EXON Missense_P29L,Missense_P39L exm37639 1 28792199 [A/G] NM_001048183,NM_023923 PHACTR4,PHACTR4 EXON Missense_G92D,Missense_G102D exm37641 1 28792276 [A/C] NM_001048183,NM_023923 PHACTR4,PHACTR4 EXON Missense_S118R,Missense_S128R exm37646 1 28792952 [T/C] NM_001048183,NM_023923 PHACTR4,PHACTR4 EXON Missense_P166S,Missense_P176S exm37666 1 28800237 [C/G] NM_001048183,NM_023923 PHACTR4,PHACTR4 EXON Missense_S332W,Missense_S342W exm37673 1 28800279 [T/C] NM_001048183,NM_023923 PHACTR4,PHACTR4 EXON Missense_P346L,Missense_P356L exm37676 1 28800380 [A/C] NM_001048183,NM_023923 PHACTR4,PHACTR4 EXON Missense_L380I,Missense_L390I exm37681 1 28800436 [A/G] NM_001048183,NM_023923 PHACTR4,PHACTR4 EXON Missense_I398M,Missense_I408M exm37682 1 28800491 [A/C] NM_001048183,NM_023923 PHACTR4,PHACTR4 EXON Missense_L417M,Missense_L427M exm37683 1 28800530 [T/C] NM_001048183,NM_023923 PHACTR4,PHACTR4 EXON Missense_P430S,Missense_P440S exm37689 1 28800629 [A/G] NM_001048183,NM_023923 PHACTR4,PHACTR4 EXON Missense_R463G,Missense_R473G exm37692 1 28802648 [A/C] NM_001048183,NM_023923 PHACTR4,PHACTR4 EXON Missense_T484N,Missense_T494N exm37694 1 28802659 [A/G] NM_001048183,NM_023923 PHACTR4,PHACTR4 EXON Missense_T488A,Missense_T498A exm37696 1 28802695 [C/G] NM_001048183,NM_023923 PHACTR4,PHACTR4 EXON Missense_P500A,Missense_P510A exm37698 1 28806965 [C/G] NM_001048183,NM_023923 PHACTR4,PHACTR4 EXON Missense_A537P,Missense_A547P exm37699 1 28806971 [A/G] NM_001048183,NM_023923 PHACTR4,PHACTR4 EXON Missense_A539T,Missense_A549T exm1787331 1 28807116 [A/G] NM_001048183,NM_023923 PHACTR4,PHACTR4 EXON Missense_R587Q,Missense_R597Q exm37708 1 28817495 [T/C] NM_001048183,NM_023923 PHACTR4,PHACTR4 EXON Nonsense_R617X,Nonsense_R627X exm2233134 1 28858447 [T/C] NR_030725,NR_030726,NM_001048199,NM_001048195,NM_001269,NM_001048194 RCC1,RCC1,RCC1,RCC1,RCC1,RCC1 EXON Silent,Silent,Missense_V69A,Missense_V86A,Missense_V69A,Missense_V100A exm37769 1 28861771 [A/G] NR_030725,NR_030726,NM_001048199,NM_001048195,NM_001269,NM_001048194 RCC1,RCC1,RCC1,RCC1,RCC1,RCC1 EXON Silent,Silent,Synonymous_G180G,Synonymous_G197G,Synonymous_G180G,Synonymous_G211G exm2233135 1 28862431 [A/G] NR_030725,NR_030726,NM_001048199,NM_001048195,NM_001269,NM_001048194 RCC1,RCC1,RCC1,RCC1,RCC1,RCC1 EXON Silent,Silent,Missense_R237Q,Missense_R254Q,Missense_R237Q,Missense_R268Q exm37776 1 28862454 [A/G] NR_030725,NR_030726,NM_001048199,NM_001048195,NM_001269,NM_001048194 RCC1,RCC1,RCC1,RCC1,RCC1,RCC1 EXON Silent,Silent,Missense_A245T,Missense_A262T,Missense_A245T,Missense_A276T exm37777 1 28862470 [A/G] NR_030725,NR_030726,NM_001048199,NM_001048195,NM_001269,NM_001048194 RCC1,RCC1,RCC1,RCC1,RCC1,RCC1 EXON Silent,Silent,Missense_Y250C,Missense_Y267C,Missense_Y250C,Missense_Y281C exm37792 1 28864399 [A/T] NR_030725,NR_030726,NM_001048199,NM_001048195,NM_001269,NM_001048194 RCC1,RCC1,RCC1,RCC1,RCC1,RCC1 EXON Silent,Silent,Missense_D382E,Missense_D399E,Missense_D382E,Missense_D413E exm37793 1 28864400 [A/G] NR_030725,NR_030726,NM_001048199,NM_001048195,NM_001269,NM_001048194 RCC1,RCC1,RCC1,RCC1,RCC1,RCC1 EXON Silent,Silent,Missense_E383K,Missense_E400K,Missense_E383K,Missense_E414K exm37800 1 28864508 [T/G] NR_030725,NR_030726,NM_001048199,NM_001048195,NM_001269,NM_001048194 RCC1,RCC1,RCC1,RCC1,RCC1,RCC1 EXON Silent,Silent,Nonsense_E419X,Nonsense_E436X,Nonsense_E419X,Nonsense_E450X exm37809 1 28880201 [T/C] NM_017846,NR_003109 TRNAU1AP,TRNAU1AP EXON Missense_M26T,Silent exm37836 1 28898383 [A/T] NM_017846,NR_003109 TRNAU1AP,TRNAU1AP EXON Missense_Y233F,Silent exm37837 1 28904029 [A/G] NM_017846,NR_003109 TRNAU1AP,TRNAU1AP EXON Missense_D249N,Silent exm37864 1 28920448 [A/C] NM_152304,NM_001193532 RAB42,RAB42 EXON Nonsense_S46X,Nonsense_S159X exm37873 1 28931901 [A/T] NM_001135218,NM_005644 TAF12,TAF12 EXON Missense_T145S,Missense_T145S exm37874 1 28931924 [T/C] NM_001135218,NM_005644 TAF12,TAF12 EXON Missense_R137Q,Missense_R137Q exm37927 1 29010147 [T/G] NM_006582,NM_024482 GMEB1,GMEB1 EXON Missense_V8G,Missense_V8G exm37946 1 29030767 [A/G] NM_006582,NM_024482 GMEB1,GMEB1 EXON Missense_N275S,Missense_N265S exm37950 1 29037143 [A/G] NM_006582,NM_024482 GMEB1,GMEB1 EXON Missense_Y337C,Missense_Y327C exm37972 1 29041227 [A/G] NM_006582,NM_024482 GMEB1,GMEB1 EXON Missense_E555G,Missense_E545G exm37977 1 29063648 [G/C] NM_001173128,NM_016258,NM_001172828 YTHDF2,YTHDF2,YTHDF2 EXON Missense_L6V,Missense_L6V,Silent exm37994 1 29069432 [C/G] NM_001173128,NM_016258,NM_001172828 YTHDF2,YTHDF2,YTHDF2 EXON Missense_T217S,Missense_T217S,Missense_T167S exm37995 1 29069443 [A/G] NM_001173128,NM_016258,NM_001172828 YTHDF2,YTHDF2,YTHDF2 EXON Missense_V221M,Missense_V221M,Missense_V171M exm37997 1 29069453 [A/G] NM_001173128,NM_016258,NM_001172828 YTHDF2,YTHDF2,YTHDF2 EXON Missense_N224S,Missense_N224S,Missense_N174S exm2264812 1 29181525 [A/G] NM_000911 OPRD1 Silent exm38046 1 29185785 [A/G] NM_000911 OPRD1 EXON Missense_I183V exm2233139 1 29189469 [G/C] NM_000911 OPRD1 EXON Missense_V265L exm2233140 1 29189487 [T/G] NM_000911 OPRD1 EXON Missense_V271L exm38066 1 29189601 [A/G] NM_000911 OPRD1 EXON Missense_A309T exm2268873 1 29194901 [T/C] exm38083 1 29314212 [A/G] NM_001166005,NM_203342,NM_203343,NM_004437,NM_001166007,NM_001166006 EPB41,EPB41,EPB41,EPB41,EPB41,EPB41 EXON Missense_K88R,Silent,Missense_K88R,Silent,Silent,Missense_K88R exm38084 1 29314302 [A/T] NM_001166005,NM_203342,NM_203343,NM_004437,NM_001166007,NM_001166006 EPB41,EPB41,EPB41,EPB41,EPB41,EPB41 EXON Missense_F118Y,Silent,Missense_F118Y,Silent,Silent,Missense_F118Y exm2233142 1 29319893 [A/G] NM_001166005,NM_203342,NM_203343,NM_004437,NM_001166007,NM_001166006 EPB41,EPB41,EPB41,EPB41,EPB41,EPB41 EXON Missense_E174K,Silent,Missense_E174K,Silent,Silent,Missense_E174K exm38093 1 29320013 [A/G] NM_001166005,NM_203342,NM_203343,NM_004437,NM_001166007,NM_001166006 EPB41,EPB41,EPB41,EPB41,EPB41,EPB41 EXON Missense_V214I,Missense_V5I,Missense_V214I,Missense_V5I,Missense_V5I,Missense_V214I exm38094 1 29320034 [A/G] NM_001166005,NM_203342,NM_203343,NM_004437,NM_001166007,NM_001166006 EPB41,EPB41,EPB41,EPB41,EPB41,EPB41 EXON Missense_V221I,Missense_V12I,Missense_V221I,Missense_V12I,Missense_V12I,Missense_V221I exm38103 1 29338416 [T/C] NM_001166005,NM_203342,NM_203343,NM_004437,NM_001166007,NM_001166006 EPB41,EPB41,EPB41,EPB41,EPB41,EPB41 EXON Missense_R276C,Missense_R67C,Missense_R241C,Missense_R67C,Missense_R67C,Missense_R276C exm38106 1 29342206 [A/G] NM_001166005,NM_203342,NM_203343,NM_004437,NM_001166007,NM_001166006 EPB41,EPB41,EPB41,EPB41,EPB41,EPB41 EXON Missense_V278I,Missense_V69I,Missense_V243I,Missense_V69I,Missense_V69I,Missense_V278I exm38116 1 29356970 [A/G] NM_001166005,NM_203342,NM_203343,NM_004437,NM_001166007,NM_001166006 EPB41,EPB41,EPB41,EPB41,EPB41,EPB41 EXON Missense_M395V,Missense_M186V,Missense_M360V,Missense_M186V,Missense_M186V,Missense_M395V exm38117 1 29356974 [A/G] NM_001166005,NM_203342,NM_203343,NM_004437,NM_001166007,NM_001166006 EPB41,EPB41,EPB41,EPB41,EPB41,EPB41 EXON Missense_Y396C,Missense_Y187C,Missense_Y361C,Missense_Y187C,Missense_Y187C,Missense_Y396C exm38139 1 29379679 [A/G] NM_001166005,NM_203342,NM_203343,NM_004437,NM_001166007,NM_001166006 EPB41,EPB41,EPB41,EPB41,EPB41,EPB41 EXON Missense_G567D,Missense_G358D,Missense_G532D,Missense_G358D,Missense_G358D,Missense_G567D exm38146 1 29385153 [C/G] NM_001166005,NM_203342,NM_203343,NM_004437,NM_001166007,NM_001166006 EPB41,EPB41,EPB41,EPB41,EPB41,EPB41 EXON Missense_T633R,Missense_T424R,Silent,Silent,Silent,Missense_T633R exm38147 1 29385350 [A/G] NM_001166005,NM_203342,NM_203343,NM_004437,NM_001166007,NM_001166006 EPB41,EPB41,EPB41,EPB41,EPB41,EPB41 EXON Missense_I644V,Silent,Silent,Silent,Silent,Silent exm1788336 1 29391585 [A/G] NM_001166005,NM_203342,NM_203343,NM_004437,NM_001166007,NM_001166006 EPB41,EPB41,EPB41,EPB41,EPB41,EPB41 EXON Missense_R700Q,Missense_R477Q,Missense_R611Q,Missense_R458Q,Missense_R437Q,Missense_R686Q exm38163 1 29424419 [T/C] NM_001166005,NM_203342,NM_203343,NM_004437,NM_001166007 EPB41,EPB41,EPB41,EPB41,EPB41 EXON Missense_T762I,Missense_T539I,Missense_T673I,Missense_T520I,Missense_T499I exm38169 1 29438907 [T/C] NM_001166005,NM_203342,NM_203343,NM_004437,NM_001166007 EPB41,EPB41,EPB41,EPB41,EPB41 EXON Missense_R815C,Missense_R592C,Missense_R726C,Missense_R539C,Missense_R552C exm38189 1 29447722 [A/G] NM_001003682,NM_001171868 TMEM200B,TMEM200B EXON Missense_R207C,Missense_R207C exm38196 1 29447886 [A/G] NM_001003682,NM_001171868 TMEM200B,TMEM200B EXON Missense_L152P,Missense_L152P exm38207 1 29448334 [T/C] NM_001003682,NM_001171868 TMEM200B,TMEM200B EXON Missense_A3T,Missense_A3T exm38232 1 29475296 [A/G] NM_005626 SRSF4 EXON Missense_R371C exm38234 1 29475308 [A/G] NM_005626 SRSF4 EXON Missense_R367C exm38236 1 29475341 [T/C] NM_005626 SRSF4 EXON Missense_G356S exm38238 1 29475394 [G/C] NM_005626 SRSF4 EXON Missense_G338A exm38252 1 29475542 [A/G] NM_005626 SRSF4 EXON Missense_R289W exm38256 1 29475628 [T/C] NM_005626 SRSF4 EXON Missense_H260R exm38257 1 29475648 [T/G] NM_005626 SRSF4 EXON Missense_E253D exm-rs2640464 1 29519778 [T/G] NM_016011,NM_001024732 MECR,MECR EXON Silent,Silent exm38280 1 29520542 [T/C] NM_016011,NM_001024732 MECR,MECR EXON Missense_T372A,Missense_T296A exm38282 1 29520550 [T/G] NM_016011,NM_001024732 MECR,MECR EXON Missense_Q369P,Missense_Q293P exm38297 1 29527028 [A/G] NM_016011,NM_001024732 MECR,MECR EXON Missense_A277V,Missense_A201V exm38300 1 29527085 [A/C] NM_016011,NM_001024732 MECR,MECR EXON Missense_R258L,Missense_R182L exm38312 1 29528531 [T/C] NM_016011,NM_001024732 MECR,MECR EXON Missense_R227K,Missense_R151K exm38322 1 29529713 [T/C] NM_016011,NM_001024732 MECR,MECR EXON Missense_G195R,Missense_G119R exm38327 1 29533289 [T/C] NM_016011,NM_001024732 MECR,MECR EXON Missense_E179K,Missense_E103K exm1788574 1 29542573 [T/C] NM_016011,NM_001024732 MECR,MECR EXON Missense_S117N,Missense_S41N exm38335 1 29542582 [A/G] NM_016011,NM_001024732 MECR,MECR EXON Missense_A114V,Missense_A38V exm38336 1 29542636 [A/G] NM_016011,NM_001024732 MECR,MECR EXON Missense_F96S,Missense_F20S exm38337 1 29542637 [A/G] NM_016011,NM_001024732 MECR,MECR EXON Missense_F96L,Missense_F20L exm38347 1 29557367 [G/C] NM_016011,NM_001024732 MECR,MECR EXON Missense_R18G,Silent exm38350 1 29557390 [A/C] NM_016011,NM_001024732 MECR,MECR EXON Missense_V10G,Silent exm38360 1 29581894 [T/C] NM_133177,NM_001195001,NM_133178,NM_005704 PTPRU,PTPRU,PTPRU,PTPRU EXON Missense_R61W,Missense_R61W,Missense_R61W,Missense_R61W exm38361 1 29581895 [A/G] NM_133177,NM_001195001,NM_133178,NM_005704 PTPRU,PTPRU,PTPRU,PTPRU EXON Missense_R61Q,Missense_R61Q,Missense_R61Q,Missense_R61Q exm38399 1 29587158 [A/G] NM_133177,NM_001195001,NM_133178,NM_005704 PTPRU,PTPRU,PTPRU,PTPRU EXON Missense_R296H,Missense_R296H,Missense_R296H,Missense_R296H exm38406 1 29587407 [A/C] NM_133177,NM_001195001,NM_133178,NM_005704 PTPRU,PTPRU,PTPRU,PTPRU EXON Missense_K379T,Missense_K379T,Missense_K379T,Missense_K379T exm38418 1 29602227 [T/G] NM_133177,NM_001195001,NM_133178,NM_005704 PTPRU,PTPRU,PTPRU,PTPRU EXON Missense_R471L,Missense_R471L,Missense_R471L,Missense_R471L exm38429 1 29606010 [A/G] NM_133177,NM_001195001,NM_133178,NM_005704 PTPRU,PTPRU,PTPRU,PTPRU EXON Missense_V536M,Missense_V536M,Missense_V536M,Missense_V536M exm38447 1 29609217 [A/G] NM_133177,NM_001195001,NM_133178,NM_005704 PTPRU,PTPRU,PTPRU,PTPRU EXON Missense_R633Q,Missense_R633Q,Missense_R633Q,Missense_R633Q exm38449 1 29609232 [T/G] NM_133177,NM_001195001,NM_133178,NM_005704 PTPRU,PTPRU,PTPRU,PTPRU EXON Missense_R638L,Missense_R638L,Missense_R638L,Missense_R638L exm38457 1 29609327 [A/G] NM_133177,NM_001195001,NM_133178,NM_005704 PTPRU,PTPRU,PTPRU,PTPRU EXON Missense_A670T,Missense_A670T,Missense_A670T,Missense_A670T exm38458 1 29609328 [T/C] NM_133177,NM_001195001,NM_133178,NM_005704 PTPRU,PTPRU,PTPRU,PTPRU EXON Missense_A670V,Missense_A670V,Missense_A670V,Missense_A670V exm38467 1 29611369 [T/C] NM_133177,NM_001195001,NM_133178,NM_005704 PTPRU,PTPRU,PTPRU,PTPRU EXON Missense_I769T,Missense_I769T,Missense_I769T,Missense_I769T exm38470 1 29616224 [T/C] NM_133177,NM_001195001,NM_133178,NM_005704 PTPRU,PTPRU,PTPRU,PTPRU EXON Silent,Silent,Silent,Missense_P783L exm38477 1 29618454 [T/C] NM_133177,NM_001195001,NM_133178,NM_005704 PTPRU,PTPRU,PTPRU,PTPRU EXON Missense_R798C,Missense_R798C,Missense_R798C,Missense_R808C exm38478 1 29618470 [A/G] NM_133177,NM_001195001,NM_133178,NM_005704 PTPRU,PTPRU,PTPRU,PTPRU EXON Missense_Q803R,Missense_Q803R,Missense_Q803R,Missense_Q813R exm38492 1 29630478 [T/C] NM_133177,NM_001195001,NM_133178,NM_005704 PTPRU,PTPRU,PTPRU,PTPRU EXON Missense_A863V,Missense_A863V,Missense_A863V,Missense_A873V exm38518 1 29631909 [A/G] NM_133177,NM_001195001,NM_133178,NM_005704 PTPRU,PTPRU,PTPRU,PTPRU EXON Missense_N930S,Missense_N930S,Missense_N930S,Missense_N940S exm38527 1 29638016 [A/G] NM_133177,NM_001195001,NM_133178,NM_005704 PTPRU,PTPRU,PTPRU,PTPRU EXON Missense_E975G,Missense_E969G,Missense_E969G,Missense_E979G exm38531 1 29638033 [A/G] NM_133177,NM_001195001,NM_133178,NM_005704 PTPRU,PTPRU,PTPRU,PTPRU EXON Missense_V981I,Missense_V975I,Missense_V975I,Missense_V985I exm38532 1 29638036 [T/A] NM_133177,NM_001195001,NM_133178,NM_005704 PTPRU,PTPRU,PTPRU,PTPRU EXON Missense_M982L,Missense_M976L,Missense_M976L,Missense_M986L exm38533 1 29638037 [T/G] NM_133177,NM_001195001,NM_133178,NM_005704 PTPRU,PTPRU,PTPRU,PTPRU EXON Missense_M982R,Missense_M976R,Missense_M976R,Missense_M986R exm38543 1 29639127 [A/G] NM_133177,NM_001195001,NM_133178,NM_005704 PTPRU,PTPRU,PTPRU,PTPRU EXON Missense_V1052I,Missense_V1043I,Missense_V1046I,Missense_V1056I exm38546 1 29639166 [T/C] NM_133177,NM_001195001,NM_133178,NM_005704 PTPRU,PTPRU,PTPRU,PTPRU EXON Missense_R1065C,Missense_R1056C,Missense_R1059C,Missense_R1069C exm38558 1 29642614 [T/G] NM_133177,NM_001195001,NM_133178,NM_005704 PTPRU,PTPRU,PTPRU,PTPRU EXON Missense_I1161S,Missense_I1152S,Missense_I1155S,Missense_I1165S exm38566 1 29644279 [T/C] NM_133177,NM_001195001,NM_133178,NM_005704 PTPRU,PTPRU,PTPRU,PTPRU EXON Missense_P1184L,Missense_P1175L,Missense_P1178L,Missense_P1188L exm38571 1 29644320 [T/C] NM_133177,NM_001195001,NM_133178,NM_005704 PTPRU,PTPRU,PTPRU,PTPRU EXON Missense_R1198W,Missense_R1189W,Missense_R1192W,Missense_R1202W exm38581 1 29647221 [A/G] NM_133177,NM_001195001,NM_133178,NM_005704 PTPRU,PTPRU,PTPRU,PTPRU EXON Missense_I1244V,Missense_I1235V,Missense_I1238V,Missense_I1248V exm38608 1 29651740 [A/G] NM_133177,NM_001195001,NM_133178,NM_005704 PTPRU,PTPRU,PTPRU,PTPRU EXON Missense_A1388T,Missense_A1381T,Missense_A1384T,Missense_A1394T exm38613 1 29652154 [A/T] NM_133177,NM_001195001,NM_133178,NM_005704 PTPRU,PTPRU,PTPRU,PTPRU EXON Missense_E1435V,Missense_E1428V,Missense_E1431V,Missense_E1441V exm2264813 1 29868073 [A/G] exm2264814 1 30133502 [A/G] exm-rs4949526 1 30432219 [T/C] exm2264998 1 30437268 [A/G] exm-rs910696 1 30567596 [A/G] exm-rs2180233 1 30627712 [T/C] exm2263819 1 30794960 [A/C] exm-rs12407007 1 30890532 [T/C] exm38621 1 31187165 [A/G] NM_002379 MATN1 EXON Missense_P457L exm38622 1 31188019 [T/G] NM_002379 MATN1 EXON Missense_K449Q exm1791661 1 31188861 [T/C] NM_002379 MATN1 EXON Missense_V368M exm38635 1 31188935 [T/C] NM_002379 MATN1 EXON Missense_R343Q exm2251338 1 31189689 [A/G] NM_002379 MATN1 EXON Synonymous_T246T exm2251339 1 31189701 [A/G] NM_002379 MATN1 EXON Synonymous_P242P exm38669 1 31194290 [T/C] NM_002379,NR_034182 MATN1,MATN1-AS1 EXON Missense_A135T,Silent exm38681 1 31194457 [T/C] NM_002379,NR_034182 MATN1,MATN1-AS1 EXON Missense_R79Q,Silent exm38686 1 31194516 [T/G] NM_002379,NR_034182 MATN1,MATN1-AS1 EXON Missense_K59N,Silent exm38690 1 31194539 [T/C] NM_002379,NR_034182 MATN1,MATN1-AS1 EXON Missense_V52I,Silent exm38691 1 31194544 [T/C] NM_002379,NR_034182 MATN1,MATN1-AS1 EXON Missense_R50H,Silent exm38710 1 31206719 [T/C] NM_006762 LAPTM5 EXON Missense_T249A exm38712 1 31206754 [A/G] NM_006762 LAPTM5 EXON Missense_P237L exm38714 1 31208042 [T/C] NM_006762 LAPTM5 EXON Missense_R226K exm38727 1 31211894 [A/G] NM_006762 LAPTM5 EXON Missense_P135S exm38728 1 31212666 [T/C] NM_006762 LAPTM5 EXON Missense_R126Q exm38732 1 31212687 [A/G] NM_006762 LAPTM5 EXON Missense_A119V exm38753 1 31230532 [T/C] NM_006762 LAPTM5 EXON Missense_T21A exm38763 1 31346102 [T/C] NM_014654 SDC3 EXON Missense_V429I exm38772 1 31346198 [T/C] NM_014654 SDC3 EXON Missense_A397T exm38781 1 31347320 [A/G] NM_014654 SDC3 EXON Missense_T329I exm38782 1 31347338 [T/G] NM_014654 SDC3 EXON Missense_E323A exm1791707 1 31349557 [C/G] NM_014654 SDC3 EXON Missense_V238L exm38813 1 31349647 [T/C] NM_014654 SDC3 EXON Missense_V208I exm38824 1 31349736 [A/G] NM_014654 SDC3 EXON Missense_T178I exm38829 1 31349871 [T/C] NM_014654 SDC3 EXON Missense_R133H exm38836 1 31349977 [A/G] NM_014654 SDC3 EXON Missense_R98C exm38837 1 31349983 [T/C] NM_014654 SDC3 EXON Missense_A96T exm38893 1 31422976 [T/C] NM_014676,NM_001020658 PUM1,PUM1 EXON Silent,Missense_I952V exm38929 1 31439065 [T/C] NM_014676,NM_001020658 PUM1,PUM1 EXON Missense_N617S,Missense_N617S exm38947 1 31441312 [G/C] NM_014676,NM_001020658 PUM1,PUM1 EXON Missense_P512A,Missense_P512A exm2251340 1 31441316 [T/C] NM_014676,NM_001020658 PUM1,PUM1 EXON Synonymous_Q510Q,Synonymous_Q510Q exm38950 1 31447545 [T/A] NM_014676,NM_001020658 PUM1,PUM1 EXON Missense_S487T,Missense_S487T exm1791740 1 31454160 [A/G] NM_014676,NM_001020658 PUM1,PUM1 EXON Synonymous_I417I,Synonymous_I417I exm38958 1 31454183 [T/C] NM_014676,NM_001020658 PUM1,PUM1 EXON Missense_A410T,Missense_A410T exm38964 1 31465377 [T/G] NM_014676,NM_001020658 PUM1,PUM1 EXON Missense_M340L,Missense_M340L exm38966 1 31465505 [T/C] NM_014676,NM_001020658 PUM1,PUM1 EXON Missense_R297H,Missense_R297H exm38971 1 31468066 [T/C] NM_014676,NM_001020658 PUM1,PUM1 EXON Missense_G241D,Missense_G241D exm38985 1 31532110 [T/C] NM_014676,NM_001020658 PUM1,PUM1 EXON Missense_G102S,Missense_G102S exm38986 1 31532151 [T/G] NM_014676,NM_001020658 PUM1,PUM1 EXON Missense_Q88P,Missense_Q88P exm38990 1 31532277 [A/G] NM_014676,NM_001020658 PUM1,PUM1 EXON Missense_A46V,Missense_A46V exm39003 1 31655410 [C/G] NM_024522 NKAIN1 EXON Missense_V167L exm39004 1 31655422 [A/T] NM_024522 NKAIN1 EXON Missense_F163I exm39007 1 31656764 [C/G] NM_024522 NKAIN1 EXON Missense_R124P exm39012 1 31656857 [T/C] NM_024522 NKAIN1 EXON Missense_R93Q exm39014 1 31658150 [T/C] NM_024522 NKAIN1 EXON Missense_V73I exm39019 1 31660926 [T/C] NM_024522 NKAIN1 EXON Missense_V55M exm2264815 1 31661921 [A/G] NM_024522 NKAIN1 Silent exm2263858 1 31681614 [A/C] NM_024522 NKAIN1 Silent exm39044 1 31754270 [T/C] NM_004814 SNRNP40 EXON Missense_N202S exm39061 1 31769528 [A/C] NM_004814 SNRNP40 EXON Missense_L24W exm-rs6679393 1 31770944 [T/C] NM_016505 ZCCHC17 Silent exm39079 1 31791962 [A/G] NM_016505 ZCCHC17 EXON Missense_M25V exm1791800 1 31810055 [A/G] NM_016505 ZCCHC17 EXON Missense_R53Q exm2264816 1 31819128 [A/G] NM_016505 ZCCHC17 Silent exm39109 1 31838767 [A/G] NM_004102 FABP3 EXON Missense_A123V exm39115 1 31842320 [T/C] NM_004102 FABP3 EXON Missense_K53R exm2233157 1 31845854 [T/C] NM_004102 FABP3 EXON Missense_D3G exm39122 1 31883259 [A/G] NM_001199038,NM_001199037 SERINC2,SERINC2 EXON Missense_E15K,Missense_E10K exm39132 1 31896645 [T/G] NM_001199038,NM_001199037,NM_178865,NM_001199039,NM_018565 SERINC2,SERINC2,SERINC2,SERINC2,SERINC2 EXON Missense_G58W,Missense_G53W,Missense_G49W,Silent,Missense_G53W exm39133 1 31896649 [T/A] NM_001199038,NM_001199037,NM_178865,NM_001199039,NM_018565 SERINC2,SERINC2,SERINC2,SERINC2,SERINC2 EXON Missense_V59E,Missense_V54E,Missense_V50E,Silent,Missense_V54E exm39138 1 31897546 [A/C] NM_001199038,NM_001199037,NM_178865,NM_001199039,NM_018565 SERINC2,SERINC2,SERINC2,SERINC2,SERINC2 EXON Missense_E82A,Missense_E77A,Missense_E73A,Missense_E18A,Missense_E77A exm2251342 1 31897556 [T/C] NM_001199038,NM_001199037,NM_178865,NM_001199039,NM_018565 SERINC2,SERINC2,SERINC2,SERINC2,SERINC2 EXON Synonymous_A85A,Synonymous_A80A,Synonymous_A76A,Synonymous_A21A,Synonymous_A80A exm39141 1 31897557 [A/G] NM_001199038,NM_001199037,NM_178865,NM_001199039,NM_018565 SERINC2,SERINC2,SERINC2,SERINC2,SERINC2 EXON Missense_G86R,Missense_G81R,Missense_G77R,Missense_G22R,Missense_G81R exm39143 1 31897587 [A/G] NM_001199038,NM_001199037,NM_178865,NM_001199039,NM_018565 SERINC2,SERINC2,SERINC2,SERINC2,SERINC2 EXON Missense_D96N,Missense_D91N,Missense_D87N,Missense_D32N,Missense_D91N exm39148 1 31897639 [T/C] NM_001199038,NM_001199037,NM_178865,NM_001199039,NM_018565 SERINC2,SERINC2,SERINC2,SERINC2,SERINC2 EXON Missense_T113M,Missense_T108M,Missense_T104M,Missense_T49M,Missense_T108M exm39154 1 31897692 [T/C] NM_001199038,NM_001199037,NM_178865,NM_001199039,NM_018565 SERINC2,SERINC2,SERINC2,SERINC2,SERINC2 EXON Missense_R131W,Missense_R126W,Missense_R122W,Missense_R67W,Missense_R126W exm39169 1 31898640 [A/G] NM_001199038,NM_001199037,NM_178865,NM_001199039,NM_018565 SERINC2,SERINC2,SERINC2,SERINC2,SERINC2 EXON Missense_V173I,Missense_V168I,Missense_V164I,Missense_V109I,Missense_V168I exm39174 1 31898712 [T/C] NM_001199038,NM_001199037,NM_178865,NM_001199039,NM_018565 SERINC2,SERINC2,SERINC2,SERINC2,SERINC2 EXON Missense_R197W,Missense_R192W,Missense_R188W,Missense_R133W,Missense_R192W exm39181 1 31898757 [A/G] NM_001199038,NM_001199037,NM_178865,NM_001199039,NM_018565 SERINC2,SERINC2,SERINC2,SERINC2,SERINC2 EXON Missense_A212T,Missense_A207T,Missense_A203T,Missense_A148T,Missense_A207T exm1791834 1 31899521 [T/C] NM_001199038,NM_001199037,NM_178865,NM_001199039,NM_018565 SERINC2,SERINC2,SERINC2,SERINC2,SERINC2 EXON Missense_L220F,Missense_L215F,Missense_L211F,Missense_L156F,Missense_L215F exm39197 1 31902279 [A/G] NM_001199038,NM_001199037,NM_178865,NM_001199039,NM_018565 SERINC2,SERINC2,SERINC2,SERINC2,SERINC2 EXON Missense_G312S,Missense_G307S,Missense_G303S,Missense_G248S,Missense_G307S exm39205 1 31902357 [A/G] NM_001199038,NM_001199037,NM_178865,NM_001199039,NM_018565 SERINC2,SERINC2,SERINC2,SERINC2,SERINC2 EXON Missense_I338V,Missense_I333V,Missense_I329V,Missense_I274V,Missense_I333V exm39210 1 31905818 [T/C] NM_001199038,NM_001199037,NM_178865,NM_001199039,NM_018565 SERINC2,SERINC2,SERINC2,SERINC2,SERINC2 EXON Missense_R349C,Missense_R344C,Missense_R340C,Missense_R285C,Missense_R344C exm39211 1 31905819 [A/G] NM_001199038,NM_001199037,NM_178865,NM_001199039,NM_018565 SERINC2,SERINC2,SERINC2,SERINC2,SERINC2 EXON Missense_R349H,Missense_R344H,Missense_R340H,Missense_R285H,Missense_R344H exm39212 1 31905834 [A/G] NM_001199038,NM_001199037,NM_178865,NM_001199039,NM_018565 SERINC2,SERINC2,SERINC2,SERINC2,SERINC2 EXON Missense_R354Q,Missense_R349Q,Missense_R345Q,Missense_R290Q,Missense_R349Q exm39214 1 31905860 [A/G] NM_001199038,NM_001199037,NM_178865,NM_001199039,NM_018565 SERINC2,SERINC2,SERINC2,SERINC2,SERINC2 EXON Missense_E363K,Missense_E358K,Missense_E354K,Missense_E299K,Missense_E358K exm39219 1 31905924 [A/G] NM_001199038,NM_001199037,NM_178865,NM_001199039,NM_018565 SERINC2,SERINC2,SERINC2,SERINC2,SERINC2 EXON Missense_R384Q,Missense_R379Q,Missense_R375Q,Missense_R320Q,Missense_R379Q exm39223 1 31905942 [A/G] NM_001199038,NM_001199037,NM_178865,NM_001199039,NM_018565 SERINC2,SERINC2,SERINC2,SERINC2,SERINC2 EXON Missense_Q390R,Missense_Q385R,Missense_Q381R,Missense_Q326R,Missense_Q385R exm39226 1 31905947 [A/G] NM_001199038,NM_001199037,NM_178865,NM_001199039,NM_018565 SERINC2,SERINC2,SERINC2,SERINC2,SERINC2 EXON Missense_G392S,Missense_G387S,Missense_G383S,Missense_G328S,Missense_G387S exm39235 1 31906932 [T/G] NM_001199038,NM_001199037,NM_178865,NM_001199039,NM_018565 SERINC2,SERINC2,SERINC2,SERINC2,SERINC2 EXON Missense_M427I,Missense_M422I,Missense_M418I,Missense_M363I,Missense_M422I exm39237 1 31906948 [A/G] NM_001199038,NM_001199037,NM_178865,NM_001199039,NM_018565 SERINC2,SERINC2,SERINC2,SERINC2,SERINC2 EXON Missense_A433T,Missense_A428T,Missense_A424T,Missense_A369T,Missense_A428T exm39239 1 31907012 [T/C] NM_001199038,NM_001199037,NM_178865,NM_001199039,NM_018565 SERINC2,SERINC2,SERINC2,SERINC2,SERINC2 EXON Missense_A454V,Missense_A449V,Missense_A445V,Missense_A390V,Missense_A449V exm39241 1 31907027 [A/G] NM_001199038,NM_001199037,NM_178865,NM_001199039,NM_018565 SERINC2,SERINC2,SERINC2,SERINC2,SERINC2 EXON Missense_R459H,Missense_R454H,Missense_R450H,Missense_R395H,Missense_R454H exm39242 1 31907032 [T/C] NM_001199038,NM_001199037,NM_178865,NM_001199039,NM_018565 SERINC2,SERINC2,SERINC2,SERINC2,SERINC2 EXON Missense_R461C,Missense_R456C,Missense_R452C,Missense_R397C,Missense_R456C exm2260174 1 31943343 [T/C] exm39247 1 32042762 [T/C] NM_001204414,NM_022164 TINAGL1,TINAGL1 EXON Missense_P5S,Missense_P5S exm39273 1 32049084 [A/G] NM_001204414,NM_022164,NM_001204415 TINAGL1,TINAGL1,TINAGL1 EXON Missense_A133T,Missense_A164T,Missense_A59T exm39276 1 32049151 [T/C] NM_001204414,NM_022164,NM_001204415 TINAGL1,TINAGL1,TINAGL1 EXON Missense_S155L,Missense_S186L,Missense_S81L exm39281 1 32050289 [A/G] NM_001204414,NM_022164,NM_001204415 TINAGL1,TINAGL1,TINAGL1 EXON Missense_N167S,Missense_N198S,Missense_N93S exm39287 1 32050351 [A/G] NM_001204414,NM_022164,NM_001204415 TINAGL1,TINAGL1,TINAGL1 EXON Missense_E188K,Missense_E219K,Missense_E114K exm39301 1 32050843 [A/G] NM_001204414,NM_022164,NM_001204415 TINAGL1,TINAGL1,TINAGL1 EXON Missense_G286S,Missense_G317S,Missense_G212S exm39312 1 32051421 [A/C] NM_001204414,NM_022164,NM_001204415 TINAGL1,TINAGL1,TINAGL1 EXON Missense_S356R,Missense_S387R,Missense_S282R exm39319 1 32052477 [A/G] NM_001204414,NM_022164,NM_001204415 TINAGL1,TINAGL1,TINAGL1 EXON Missense_R403K,Missense_R434K,Missense_R329K exm39321 1 32052529 [A/C] NM_001204414,NM_022164,NM_001204415 TINAGL1,TINAGL1,TINAGL1 EXON Missense_F420L,Missense_F451L,Missense_F346L exm39325 1 32084861 [T/C] NM_001525 HCRTR1 EXON Missense_V23A exm39326 1 32084872 [T/G] NM_001525 HCRTR1 EXON Missense_Y27D exm39328 1 32084917 [G/C] NM_001525 HCRTR1 EXON Missense_P42A exm39335 1 32085210 [A/G] NM_001525 HCRTR1 EXON Missense_V93I exm39353 1 32086564 [A/G] NM_001525 HCRTR1 EXON Missense_G167S exm39356 1 32086654 [T/C] NM_001525 HCRTR1 EXON Missense_R197W exm39363 1 32087170 [T/C] NM_001525 HCRTR1 EXON Missense_F239L exm39366 1 32087189 [A/G] NM_001525 HCRTR1 EXON Missense_R245H exm39371 1 32089178 [A/C] NM_001525 HCRTR1 EXON Missense_L265M exm39372 1 32089208 [A/G] NM_001525 HCRTR1 EXON Missense_E275K exm39375 1 32089227 [A/G] NM_001525 HCRTR1 EXON Missense_R281H exm1792172 1 32089307 [A/G] NM_001525 HCRTR1 EXON Missense_A308T exm39385 1 32090600 [T/C] NM_001525 HCRTR1 EXON Missense_V323A exm39389 1 32090716 [A/G] NM_001525 HCRTR1 EXON Missense_S362G exm39398 1 32092525 [A/G] NM_001525 HCRTR1 EXON Missense_I408V exm39406 1 32096386 [T/C] NR_033686,NM_012392,NR_033688 PEF1,PEF1,PEF1 EXON Silent,Missense_R228H,Silent exm39411 1 32098120 [T/C] NR_033686,NM_012392,NR_033688 PEF1,PEF1,PEF1 EXON Silent,Missense_I201V,Silent exm39413 1 32098137 [T/C] NR_033686,NM_012392,NR_033688 PEF1,PEF1,PEF1 EXON Silent,Missense_R195Q,Silent exm39424 1 32098910 [T/C] NR_033686,NM_012392,NR_033688 PEF1,PEF1,PEF1 EXON Silent,Missense_A111T,Silent exm39428 1 32100879 [T/C] NR_033686,NM_012392,NR_033688 PEF1,PEF1,PEF1 EXON Silent,Missense_Y90C,Silent exm39439 1 32101060 [T/G] NR_033686,NM_012392,NR_033688 PEF1,PEF1,PEF1 EXON Silent,Missense_P30T,Silent exm39452 1 32119265 [A/G] NM_001856 COL16A1 EXON Missense_T1516I exm39454 1 32119492 [A/G] NM_001856 COL16A1 EXON Missense_R1504W exm39456 1 32119527 [A/G] NM_001856 COL16A1 EXON Missense_S1492L exm1792274 1 32119590 [T/G] NM_001856 COL16A1 EXON Missense_A1471D exm39460 1 32119619 [A/C] NM_001856 COL16A1 EXON Missense_R1461S exm39463 1 32120423 [T/C] NM_001856 COL16A1 EXON Missense_I1443V exm39464 1 32120944 [A/G] NM_001856 COL16A1 EXON Missense_P1421S exm39472 1 32121026 [G/C] NM_001856 COL16A1 EXON Missense_K1393N exm39484 1 32126672 [T/C] NM_001856 COL16A1 EXON Missense_A1274T exm39486 1 32126681 [A/G] NM_001856 COL16A1 EXON Missense_R1271W exm39505 1 32130793 [A/G] NM_001856 COL16A1 EXON Missense_P1179S exm39518 1 32133177 [A/G] NM_001856 COL16A1 EXON Missense_P1119L exm39539 1 32138045 [A/G] NM_001856 COL16A1 EXON Missense_P1026L exm39543 1 32138199 [A/G] NM_001856 COL16A1 EXON Missense_R1006W exm39544 1 32138208 [T/C] NM_001856 COL16A1 EXON Missense_E1003K exm39556 1 32145415 [T/G] NM_001856 COL16A1 EXON Missense_P903Q exm39563 1 32145693 [T/C] NM_001856 COL16A1 EXON Missense_G874R exm39565 1 32146520 [A/G] NM_001856 COL16A1 EXON Missense_P866S exm39566 1 32146528 [T/C] NM_001856 COL16A1 EXON Missense_E863G exm39571 1 32148555 [A/C] NM_001856 COL16A1 EXON Missense_A840S exm39578 1 32148936 [T/A] NM_001856 COL16A1 EXON Missense_Q805L exm39585 1 32149721 [G/C] NM_001856 COL16A1 EXON Missense_P758A exm39586 1 32149760 [T/C] NM_001856 COL16A1 EXON Missense_G745S exm39595 1 32150183 [A/G] NM_001856 COL16A1 EXON Missense_R701W exm39604 1 32151316 [T/C] NM_001856 COL16A1 EXON Missense_R647H exm39605 1 32151331 [T/C] NM_001856 COL16A1 EXON Missense_Q642R exm39624 1 32154650 [A/C] NM_001856 COL16A1 Silent exm39626 1 32155367 [T/C] NM_001856 COL16A1 EXON Missense_E532G exm39630 1 32155452 [A/C] NM_001856 COL16A1 EXON Missense_G504C exm2251352 1 32156157 [T/C] NM_001856 COL16A1 EXON Synonymous_P485P exm39636 1 32156167 [A/G] NM_001856 COL16A1 EXON Missense_S482L exm39637 1 32156817 [A/C] NM_001856 COL16A1 EXON Missense_G470V exm39648 1 32157239 [T/C] NM_001856 COL16A1 EXON Missense_R421Q exm39651 1 32157610 [T/C] NM_001856 COL16A1 EXON Missense_R418Q exm39655 1 32158076 [T/C] NM_001856 COL16A1 EXON Missense_K398R exm39658 1 32158107 [A/G] NM_001856 COL16A1 EXON Missense_P388S exm39659 1 32158204 [T/C] NM_001856 COL16A1 EXON Missense_A385T exm2251353 1 32158374 [T/C] NM_001856 COL16A1 EXON Synonymous_P369P exm39667 1 32158384 [A/G] NM_001856 COL16A1 EXON Missense_P366L exm39669 1 32158399 [T/C] NM_001856 COL16A1 EXON Missense_C361Y exm39672 1 32158695 [A/G] NM_001856 COL16A1 EXON Missense_R357W exm39677 1 32159764 [A/C] NM_001856 COL16A1 EXON Missense_L330R exm39694 1 32162598 [T/C] NM_001856 COL16A1 EXON Missense_R277H exm39701 1 32163521 [G/C] NM_001856 COL16A1 EXON Missense_G215R exm39706 1 32163574 [T/C] NM_001856 COL16A1 EXON Missense_R197Q exm39707 1 32163587 [A/G] NM_001856 COL16A1 EXON Missense_P193S exm39710 1 32163632 [A/G] NM_001856 COL16A1 EXON Missense_R178C exm39712 1 32163704 [G/C] NM_001856 COL16A1 EXON Missense_V154L exm39716 1 32164127 [A/G] NM_001856 COL16A1 EXON Missense_T116M exm39721 1 32164194 [A/G] NM_001856 COL16A1 EXON Missense_R94W exm39723 1 32164206 [T/G] NM_001856 COL16A1 EXON Synonymous_R90R exm39726 1 32165463 [T/C] NM_001856 COL16A1 EXON Missense_G73R exm39727 1 32165495 [T/G] NM_001856 COL16A1 EXON Missense_T62K exm39731 1 32165648 [T/C] NM_001856 COL16A1 EXON Missense_V48M exm39735 1 32167758 [T/C] NM_001856 COL16A1 EXON Missense_G13S exm39737 1 32193044 [T/C] NM_001703 BAI2 EXON Missense_G1579S exm39739 1 32193049 [A/G] NM_001703 BAI2 EXON Missense_P1577L exm39746 1 32193185 [A/G] NM_001703 BAI2 EXON Missense_R1532C exm39753 1 32193657 [A/G] NM_001703 BAI2 EXON Missense_S1514L exm39757 1 32193790 [A/G] NM_001703 BAI2 EXON Missense_T1503M exm39761 1 32193866 [A/G] NM_001703 BAI2 EXON Missense_R1478W exm39772 1 32196549 [A/G] NM_001703 BAI2 EXON Missense_A1411V exm2233168 1 32196634 [A/G] NM_001703 BAI2 EXON Missense_R1383W exm39800 1 32198619 [A/G] NM_001703 BAI2 EXON Missense_A1193V exm39809 1 32201182 [T/C] NM_001703 BAI2 EXON Missense_G1118R exm39818 1 32201439 [T/C] NM_001703 BAI2 EXON Missense_V1086I exm39860 1 32204476 [A/G] NM_001703 BAI2 EXON Missense_P853L exm39872 1 32205102 [C/G] NM_001703 BAI2 EXON Missense_L768V exm39873 1 32205180 [A/T] NM_001703 BAI2 EXON Missense_M742L exm39881 1 32205615 [G/C] NM_001703 BAI2 EXON Missense_H693Q exm39888 1 32206054 [T/C] NM_001703 BAI2 EXON Missense_R628Q exm39907 1 32207729 [T/C] NM_001703 BAI2 EXON Missense_V448M exm39914 1 32209821 [A/G] NM_001703 BAI2 EXON Missense_P354S exm39918 1 32209949 [A/G] NM_001703 BAI2 EXON Missense_A311V exm39927 1 32210312 [G/C] NM_001703 BAI2 EXON Missense_P287A exm1792686 1 32222087 [T/C] NM_001703 BAI2 EXON Synonymous_A117A exm2251357 1 32222087 [T/C] NM_001703 BAI2 EXON Synonymous_A117A exm39956 1 32222088 [A/G] NM_001703 BAI2 EXON Missense_A117V exm39974 1 32222347 [T/C] NM_001703 BAI2 EXON Missense_T31A exm39989 1 32256329 [A/G] NM_144569 SPOCD1 EXON Missense_P1176S exm39990 1 32256385 [A/G] NM_144569 SPOCD1 EXON Missense_A1157V exm39994 1 32256433 [T/C] NM_144569 SPOCD1 EXON Missense_R1141K exm40002 1 32256590 [A/G] NM_144569 SPOCD1 EXON Missense_P1089S exm40009 1 32257833 [T/C] NM_144569 SPOCD1 EXON Missense_R982H exm40026 1 32259363 [A/G] NM_144569 SPOCD1 EXON Missense_T840M exm40030 1 32259445 [T/C] NM_144569 SPOCD1 EXON Missense_G813R exm40037 1 32259775 [A/G] NM_144569 SPOCD1 EXON Missense_T778M exm40038 1 32259791 [T/C] NM_144569 SPOCD1 EXON Missense_A773T exm40046 1 32262292 [A/G] NM_144569 SPOCD1 EXON Nonsense_Q724X exm1792735 1 32264191 [A/C] NM_144569 SPOCD1 EXON Missense_L627R exm40062 1 32265054 [T/C] NM_144569 SPOCD1 EXON Missense_I606V exm40066 1 32265676 [T/G] NM_144569 SPOCD1 EXON Missense_P557T exm40084 1 32279629 [A/G] NM_144569 SPOCD1 EXON Missense_R436W exm40098 1 32279845 [T/G] NM_144569 SPOCD1 EXON Missense_L364M exm40100 1 32279871 [T/C] NM_144569 SPOCD1 EXON Missense_Q355R exm40102 1 32279890 [T/C] NM_144569 SPOCD1 EXON Missense_T349A exm40106 1 32280063 [A/G] NM_144569 SPOCD1 EXON Missense_T291I exm40107 1 32280069 [G/C] NM_144569 SPOCD1 EXON Missense_P289R exm40110 1 32280190 [C/G] NM_144569 SPOCD1 EXON Missense_L249V exm40112 1 32280237 [T/C] NM_144569 SPOCD1 EXON Missense_R233H exm1792757 1 32280367 [A/G] NM_144569 SPOCD1 EXON Missense_P190S exm40118 1 32280369 [A/G] NM_144569 SPOCD1 EXON Missense_P189L exm40129 1 32280610 [T/C] NM_144569 SPOCD1 EXON Missense_T109A exm40131 1 32280660 [T/C] NM_144569 SPOCD1 EXON Missense_R92Q exm40132 1 32280699 [T/C] NM_144569 SPOCD1 EXON Missense_R79Q exm40133 1 32280724 [A/G] NM_144569 SPOCD1 EXON Missense_R71W exm40135 1 32280787 [T/C] NM_144569 SPOCD1 EXON Missense_G50R exm2264817 1 32438234 [A/G] exm40173 1 32502626 [T/C] NM_001271878,NR_073499,NM_006559,NR_073498 KHDRBS1,KHDRBS1,KHDRBS1,KHDRBS1 EXON Missense_P257L,Silent,Missense_P296L,Silent exm40188 1 32508204 [C/G] NM_001271878,NR_073499,NM_006559,NR_073498 KHDRBS1,KHDRBS1,KHDRBS1,KHDRBS1 EXON Missense_E398D,Silent,Missense_E437D,Silent exm40198 1 32542819 [T/C] NM_018056 TMEM39B EXON Missense_R164C exm40221 1 32557607 [A/G] NM_018056 TMEM39B EXON Missense_V308M exm2277051 1 32560559 [G/C] NM_018056 TMEM39B EXON Missense_V368L exm40233 1 32560559 [A/G] NM_018056 TMEM39B EXON Missense_V368M exm40235 1 32566070 [T/G] NM_018056 TMEM39B EXON Missense_Q381H exm40243 1 32568247 [T/G] NM_018056 TMEM39B EXON Missense_Q484H exm40264 1 32620194 [A/G] NM_012316 KPNA6 EXON Missense_M4V exm40269 1 32620269 [T/C] NM_012316 KPNA6 EXON Nonsense_R29X exm40272 1 32622496 [T/G] NM_012316 KPNA6 EXON Missense_A61S exm1793608 1 32635611 [A/G] NM_012316 KPNA6 EXON Missense_R458H exm40304 1 32636403 [A/G] NM_012316 KPNA6 EXON Missense_D507N exm40306 1 32636450 [T/C] NM_012316 KPNA6 EXON Synonymous_F522F exm2251372 1 32636450 [T/C] NM_012316 KPNA6 EXON Synonymous_F522F exm40317 1 32646092 [A/G] NM_175852 TXLNA EXON Missense_S49N exm40322 1 32646953 [A/G] NM_175852 TXLNA EXON Missense_G94S exm40327 1 32647062 [A/G] NM_175852 TXLNA EXON Missense_N130S exm40332 1 32647133 [G/C] NM_175852 TXLNA EXON Missense_R154G exm40334 1 32647161 [A/G] NM_175852 TXLNA EXON Missense_K163R exm40340 1 32653591 [T/C] NM_175852 TXLNA EXON Missense_L212F exm2251374 1 32655763 [T/C] NM_175852 TXLNA EXON Synonymous_N292N exm40356 1 32658009 [A/G] NM_175852 TXLNA EXON Missense_R354Q exm40380 1 32667609 [T/C] NM_024296 CCDC28B EXON Missense_R25W exm40382 1 32667627 [A/C] NM_024296 CCDC28B EXON Missense_T31P exm40391 1 32669645 [T/C] NM_024296 CCDC28B EXON Synonymous_F110F exm40400 1 32669918 [A/G] NM_024296 CCDC28B EXON Missense_G155R exm40411 1 32670842 [A/C] NM_024296 CCDC28B EXON Missense_A199D exm40422 1 32671801 [T/G] NM_001160042,NM_018134 IQCC,IQCC EXON Missense_R110L,Missense_R30L exm40427 1 32672143 [A/G] NM_001160042,NM_018134 IQCC,IQCC EXON Missense_D154N,Missense_D74N exm40430 1 32672189 [A/G] NM_001160042,NM_018134 IQCC,IQCC EXON Missense_C169Y,Missense_C89Y exm40446 1 32672713 [T/C] NM_001160042,NM_018134 IQCC,IQCC EXON Missense_R264C,Missense_R184C exm40453 1 32672932 [A/G] NM_001160042,NM_018134 IQCC,IQCC EXON Missense_C297Y,Missense_C217Y exm40454 1 32672958 [A/G] NM_001160042,NM_018134 IQCC,IQCC EXON Missense_A306T,Missense_A226T exm2233180 1 32672985 [T/G] NM_001160042,NM_018134 IQCC,IQCC EXON Missense_D315Y,Missense_D235Y exm40456 1 32673085 [T/C] NM_001160042,NM_018134 IQCC,IQCC EXON Missense_I348T,Missense_I268T exm40462 1 32673184 [A/G] NM_001160042,NM_018134 IQCC,IQCC EXON Missense_G381E,Missense_G301E exm40468 1 32673381 [T/C] NM_001160042,NM_018134 IQCC,IQCC EXON Nonsense_R447X,Nonsense_R367X exm40469 1 32673382 [A/G] NM_001160042,NM_018134 IQCC,IQCC EXON Missense_R447Q,Missense_R367Q exm40474 1 32673460 [A/G] NM_001160042,NM_018134 IQCC,IQCC EXON Missense_S473N,Missense_S393N exm40477 1 32673514 [C/G] NM_001160042,NM_018134 IQCC,IQCC EXON Missense_R491T,Missense_R411T exm40478 1 32673516 [A/C] NM_001160042,NM_018134 IQCC,IQCC EXON Missense_S492R,Missense_S412R exm40479 1 32673540 [A/G] NM_001160042,NM_018134 IQCC,IQCC EXON Missense_E500K,Missense_E420K exm40480 1 32673584 [A/G] NM_001160042,NM_018134 IQCC,IQCC EXON Nonsense_W514X,Nonsense_W434X exm40482 1 32673625 [T/G] NM_001160042,NM_018134 IQCC,IQCC EXON Missense_G528V,Missense_G448V exm40484 1 32673673 [T/C] NM_001160042,NM_018134 IQCC,IQCC EXON Missense_P544L,Missense_P464L exm40501 1 32674915 [T/G] NM_001099434 DCDC2B EXON Missense_R74I exm40502 1 32674925 [A/T] NM_001099434 DCDC2B EXON Nonsense_Y77X exm40503 1 32674927 [T/C] NM_001099434 DCDC2B EXON Missense_V78A exm40505 1 32676873 [T/C] NM_001099434 DCDC2B EXON Synonymous_H89H exm40510 1 32677404 [T/C] NM_001099434 DCDC2B EXON Missense_R121W exm40511 1 32677405 [A/G] NM_001099434 DCDC2B EXON Missense_R121Q exm40512 1 32677420 [A/G] NM_001099434 DCDC2B EXON Missense_G126D exm40520 1 32678180 [A/G] NM_001099434 DCDC2B EXON Missense_K206R exm40535 1 32680494 [T/C] NM_001099434 DCDC2B EXON Nonsense_Q271X exm40536 1 32680530 [A/T] NM_001099434 DCDC2B EXON Missense_S283T exm40538 1 32681069 [A/C] NM_001099434 DCDC2B EXON Missense_H293Q exm40550 1 32682471 [T/G] NM_019118 TMEM234 EXON Missense_Q136K exm40559 1 32682896 [A/C] NM_019118 TMEM234 EXON Missense_V98F exm40564 1 32682947 [T/C] NM_019118 TMEM234 EXON Missense_T81A exm40578 1 32687616 [T/C] NM_019118 TMEM234 EXON Missense_Q7R exm40583 1 32687914 [A/T] NM_019118 TMEM234 EXON Missense_S4T exm40617 1 32694351 [A/T] NM_003757 EIF3I EXON Missense_E221D exm40629 1 32713033 [A/G] NM_032648 FAM167B EXON Missense_G4E exm40638 1 32713257 [A/G] NM_032648 FAM167B EXON Missense_A79T exm40643 1 32714047 [A/G] NM_032648 FAM167B EXON Missense_M113V exm40644 1 32714049 [A/G] NM_032648 FAM167B EXON Missense_M113I exm40649 1 32740366 [A/G] NM_005356,NM_001042771 LCK,LCK EXON Missense_R45Q,Missense_R45Q exm40651 1 32740393 [C/G] NM_005356,NM_001042771 LCK,LCK EXON Missense_S54C,Missense_S54C exm2251377 1 32741633 [T/C] NM_005356,NM_001042771 LCK,LCK EXON Synonymous_P200P,Synonymous_P200P exm40679 1 32745458 [A/C] NM_005356,NM_001042771 LCK,LCK EXON Missense_A353E,Missense_A353E exm40738 1 32797183 [A/G] NM_004964 HDAC1 EXON Missense_K363R exm40743 1 32797371 [A/G] NM_004964 HDAC1 EXON Missense_D395N exm2233186 1 32798310 [G/C] NM_004964 HDAC1 EXON Missense_E461Q exm40767 1 32800320 [T/C] NR_052852,NM_023009 MARCKSL1,MARCKSL1 EXON Silent,Missense_A156T exm40778 1 32800640 [A/G] NR_052852,NM_023009 MARCKSL1,MARCKSL1 EXON Silent,Missense_P49L exm40789 1 32827385 [A/G] NM_001167676 FAM229A EXON Missense_A76V exm40794 1 32828349 [T/C] NM_052841 TSSK3 EXON Missense_I16T exm40803 1 32829261 [A/G] NM_052841 TSSK3 EXON Missense_I71V exm2233188 1 32829268 [T/C] NM_052841 TSSK3 EXON Missense_V73A exm40809 1 32829321 [A/G] NM_052841 TSSK3 EXON Missense_A91T exm40818 1 32829448 [A/G] NM_052841 TSSK3 EXON Missense_R133Q exm40828 1 32829642 [A/G] NM_052841 TSSK3 EXON Missense_V198M exm40840 1 32829807 [T/C] NM_052841 TSSK3 EXON Missense_R253W exm40846 1 32834055 [A/G] NM_018045,NM_001143890,NM_001143888,NM_001143889 BSDC1,BSDC1,BSDC1,BSDC1 EXON Missense_S418F,Missense_S323F,Missense_S435F,Missense_S362F exm40850 1 32834137 [T/C] NM_018045,NM_001143890,NM_001143888,NM_001143889 BSDC1,BSDC1,BSDC1,BSDC1 EXON Missense_I391V,Missense_I296V,Missense_I408V,Missense_I335V exm40865 1 32842319 [T/C] NM_018045,NM_001143890,NM_001143888,NM_001143889 BSDC1,BSDC1,BSDC1,BSDC1 EXON Missense_I234V,Missense_I139V,Missense_I251V,Missense_I178V exm40867 1 32843606 [T/C] NM_018045,NM_001143890,NM_001143888,NM_001143889 BSDC1,BSDC1,BSDC1,BSDC1 EXON Missense_S214N,Missense_S119N,Missense_S231N,Missense_S158N exm40877 1 32844350 [T/G] NM_018045,NM_001143890,NM_001143888,NM_001143889 BSDC1,BSDC1,BSDC1,BSDC1 EXON Missense_S168Y,Missense_S73Y,Missense_S185Y,Missense_S112Y exm40879 1 32846847 [A/G] NM_018045,NM_001143890,NM_001143888,NM_001143889 BSDC1,BSDC1,BSDC1,BSDC1 EXON Missense_S127L,Missense_S32L,Missense_S144L,Missense_S71L exm40886 1 32852429 [A/G] NM_018045,NM_001143890,NM_001143888,NM_001143889 BSDC1,BSDC1,BSDC1,BSDC1 EXON Missense_T47M,Silent,Missense_T47M,Missense_T47M exm40913 1 32937153 [A/G] NM_001145720 ZBTB8B EXON Missense_G310S exm2251389 1 32950719 [T/C] NM_001145720 ZBTB8B EXON Synonymous_R396R exm2251390 1 32975903 [T/G] exm40927 1 33058596 [A/G] NM_001040441 ZBTB8A EXON Missense_V22I exm1794381 1 33059197 [C/G] NM_001040441 ZBTB8A EXON Missense_T222S exm1794382 1 33059200 [A/C] NM_001040441 ZBTB8A EXON Missense_H223P exm40957 1 33059343 [A/G] NM_001040441 ZBTB8A EXON Missense_K271E exm40964 1 33065688 [A/G] NM_001040441 ZBTB8A EXON Missense_I332V exm40969 1 33065830 [T/C] NM_001040441 ZBTB8A EXON Missense_I379T exm40970 1 33065908 [A/G] NM_001040441 ZBTB8A EXON Missense_E405G exm40972 1 33065947 [G/C] NM_001040441 ZBTB8A EXON Missense_G418A exm40975 1 33065962 [A/G] NM_001040441 ZBTB8A EXON Missense_Q423R exm2268875 1 33068754 [T/C] NM_001040441 ZBTB8A EXON Silent exm40987 1 33099564 [T/C] NM_178547 ZBTB8OS EXON Missense_V90I exm40991 1 33099579 [A/G] NM_178547 ZBTB8OS EXON Missense_L85F exm41007 1 33116103 [A/C] NM_178547 ZBTB8OS EXON Missense_D22Y exm2233193 1 33149890 [A/G] NM_001135255,NM_005610,NM_001135256,NM_030786,NM_001161708 RBBP4,RBBP4,RBBP4,SYNC,SYNC EXON Silent,Silent,Silent,Missense_L443F,Missense_L443F exm41072 1 33160510 [T/C] NM_030786,NM_001161708 SYNC,SYNC EXON Missense_A397T,Missense_A397T exm41073 1 33160526 [T/G] NM_030786,NM_001161708 SYNC,SYNC EXON Missense_N391K,Missense_N391K exm41081 1 33160653 [T/C] NM_030786,NM_001161708 SYNC,SYNC EXON Missense_R349Q,Missense_R349Q exm41089 1 33160878 [T/C] NM_030786,NM_001161708 SYNC,SYNC EXON Missense_R274Q,Missense_R274Q exm41092 1 33160912 [A/G] NM_030786,NM_001161708 SYNC,SYNC EXON Missense_R263C,Missense_R263C exm41095 1 33161113 [A/G] NM_030786,NM_001161708 SYNC,SYNC EXON Missense_L196F,Missense_L196F exm41098 1 33161212 [T/C] NM_030786,NM_001161708 SYNC,SYNC EXON Missense_M163V,Missense_M163V exm41120 1 33233498 [T/C] NM_020888,NM_001198972,NM_001198973 KIAA1522,KIAA1522,KIAA1522 EXON Missense_P116S,Missense_P57S,Missense_P57S exm41129 1 33234254 [T/C] NM_020888,NM_001198972,NM_001198973 KIAA1522,KIAA1522,KIAA1522 EXON Missense_S155F,Missense_S96F,Missense_S96F exm41134 1 33234293 [A/G] NM_020888,NM_001198972,NM_001198973 KIAA1522,KIAA1522,KIAA1522 EXON Missense_C168Y,Missense_C109Y,Missense_C109Y exm1794649 1 33234307 [T/C] NM_020888,NM_001198972,NM_001198973 KIAA1522,KIAA1522,KIAA1522 EXON Missense_S173P,Missense_S114P,Missense_S114P exm41137 1 33234352 [T/C] NM_020888,NM_001198972,NM_001198973 KIAA1522,KIAA1522,KIAA1522 EXON Missense_R188C,Missense_R129C,Missense_R129C exm2273629 1 33234353 [A/G] NM_020888,NM_001198972,NM_001198973 KIAA1522,KIAA1522,KIAA1522 EXON Missense_R188H,Missense_R129H,Missense_R129H exm41145 1 33235364 [T/C] NM_020888,NM_001198972,NM_001198973 KIAA1522,KIAA1522,KIAA1522 EXON Missense_P226L,Missense_P167L,Silent exm41146 1 33235371 [A/T] NM_020888,NM_001198972,NM_001198973 KIAA1522,KIAA1522,KIAA1522 EXON Missense_H228Q,Missense_H169Q,Silent exm41149 1 33235495 [T/C] NM_020888,NM_001198972,NM_001198973 KIAA1522,KIAA1522,KIAA1522 EXON Missense_R239C,Missense_R180C,Silent exm41157 1 33235651 [A/G] NM_020888,NM_001198972,NM_001198973 KIAA1522,KIAA1522,KIAA1522 EXON Missense_M291V,Missense_M232V,Silent exm41158 1 33235660 [T/C] NM_020888,NM_001198972,NM_001198973 KIAA1522,KIAA1522,KIAA1522 EXON Missense_R294C,Missense_R235C,Silent exm41162 1 33235709 [T/C] NM_020888,NM_001198972,NM_001198973 KIAA1522,KIAA1522,KIAA1522 EXON Missense_T310M,Missense_T251M,Silent exm41165 1 33235789 [T/C] NM_020888,NM_001198972,NM_001198973 KIAA1522,KIAA1522,KIAA1522 EXON Missense_P337S,Missense_P278S,Silent exm41194 1 33236255 [A/G] NM_020888,NM_001198972,NM_001198973 KIAA1522,KIAA1522,KIAA1522 EXON Missense_R492H,Missense_R433H,Silent exm1794682 1 33236285 [A/G] NM_020888,NM_001198972,NM_001198973 KIAA1522,KIAA1522,KIAA1522 EXON Missense_R502H,Missense_R443H,Silent exm41204 1 33236483 [A/G] NM_020888,NM_001198972,NM_001198973 KIAA1522,KIAA1522,KIAA1522 EXON Missense_R568Q,Missense_R509Q,Silent exm41212 1 33236624 [A/G] NM_020888,NM_001198972,NM_001198973 KIAA1522,KIAA1522,KIAA1522 EXON Missense_R615H,Missense_R556H,Silent exm41221 1 33236845 [A/G] NM_020888,NM_001198972,NM_001198973 KIAA1522,KIAA1522,KIAA1522 EXON Missense_A689T,Missense_A630T,Silent exm41231 1 33237266 [T/C] NM_020888,NM_001198972,NM_001198973 KIAA1522,KIAA1522,KIAA1522 EXON Missense_P829L,Missense_P770L,Silent exm41237 1 33237346 [T/C] NM_020888,NM_001198972,NM_001198973 KIAA1522,KIAA1522,KIAA1522 EXON Missense_P856S,Missense_P797S,Silent exm41239 1 33237358 [T/C] NM_020888,NM_001198972,NM_001198973 KIAA1522,KIAA1522,KIAA1522 EXON Missense_P860S,Missense_P801S,Silent exm41251 1 33237659 [G/C] NM_020888,NM_001198972,NM_001198973 KIAA1522,KIAA1522,KIAA1522 EXON Missense_P960R,Missense_P901R,Silent exm41278 1 33245024 [T/C] NM_003680 YARS EXON Missense_E479K exm1794719 1 33245687 [T/C] NM_003680 YARS EXON Missense_I445V exm41283 1 33245729 [A/T] NM_003680 YARS EXON Missense_M431L exm41286 1 33245792 [T/C] NM_003680 YARS EXON Missense_V410M exm41297 1 33248032 [T/C] NM_003680 YARS EXON Missense_A339T exm41354 1 33291942 [T/C] NM_001256121,NM_022753 S100PBP,S100PBP EXON Missense_V81A,Missense_V81A exm41355 1 33291987 [A/G] NM_001256121,NM_022753 S100PBP,S100PBP EXON Missense_R96Q,Missense_R96Q exm41357 1 33292008 [A/G] NM_001256121,NM_022753 S100PBP,S100PBP EXON Missense_S103N,Missense_S103N exm41358 1 33292014 [A/G] NM_001256121,NM_022753 S100PBP,S100PBP EXON Missense_G105E,Missense_G105E exm1794965 1 33292050 [G/C] NM_001256121,NM_022753 S100PBP,S100PBP EXON Missense_P117R,Missense_P117R exm41376 1 33292442 [T/C] NM_001256121,NM_022753 S100PBP,S100PBP EXON Missense_P248S,Missense_P248S exm41389 1 33295603 [A/G] NM_001256121,NM_022753 S100PBP,S100PBP EXON Missense_Q320R,Missense_Q320R exm41391 1 33295664 [C/G] NM_001256121,NM_022753 S100PBP,S100PBP EXON Missense_N340K,Missense_N340K exm1795106 1 33330302 [A/G] NM_001171940,NM_153756,NM_001171941 FNDC5,FNDC5,FNDC5 EXON Silent,Missense_T124I,Missense_T124I exm41406 1 33330344 [T/C] NM_001171940,NM_153756,NM_001171941 FNDC5,FNDC5,FNDC5 EXON Silent,Missense_N110S,Missense_N110S exm41407 1 33330377 [T/C] NM_001171940,NM_153756,NM_001171941 FNDC5,FNDC5,FNDC5 EXON Missense_R99H,Missense_R99H,Missense_R99H exm41410 1 33333378 [T/C] NM_001171940,NM_153756,NM_001171941 FNDC5,FNDC5,FNDC5 EXON Missense_V84I,Missense_V84I,Missense_V84I exm41413 1 33333401 [T/C] NM_001171940,NM_153756,NM_001171941 FNDC5,FNDC5,FNDC5 EXON Missense_R76Q,Missense_R76Q,Missense_R76Q exm41420 1 33333953 [T/C] NM_001171940,NM_153756,NM_001171941 FNDC5,FNDC5,FNDC5 EXON Missense_V8M,Missense_V8M,Missense_V8M exm2264818 1 33348442 [A/G] exm41441 1 33360429 [A/T] NM_033504 TMEM54 EXON Missense_S216C exm41456 1 33361013 [T/C] NM_033504 TMEM54 EXON Missense_A163T exm2233203 1 33361163 [T/C] NM_033504 TMEM54 EXON Missense_R151H exm41459 1 33361173 [T/C] NM_033504 TMEM54 EXON Missense_D148N exm41463 1 33361277 [A/G] NM_033504 TMEM54 EXON Missense_L113S exm41465 1 33361287 [A/G] NM_033504 TMEM54 EXON Missense_L110F exm41466 1 33361344 [G/C] NM_033504 TMEM54 EXON Missense_R91G exm41474 1 33361552 [T/C] NM_033504 TMEM54 EXON Missense_A77T exm41476 1 33363734 [A/G] NM_033504 TMEM54 EXON Missense_A68V exm41481 1 33363801 [T/C] NM_033504 TMEM54 EXON Missense_V46M exm41496 1 33402504 [A/G] NM_001127361,NM_153341 RNF19B,RNF19B EXON Silent,Missense_A701V exm2251407 1 33402515 [T/C] NM_001127361,NM_153341 RNF19B,RNF19B EXON Silent,Synonymous_S697S exm41518 1 33407887 [T/C] NM_001127361,NM_153341 RNF19B,RNF19B EXON Missense_G526S,Missense_G527S exm41528 1 33411175 [T/C] NM_001127361,NM_153341 RNF19B,RNF19B EXON Missense_I401V,Missense_I402V exm41529 1 33411194 [T/G] NM_001127361,NM_153341 RNF19B,RNF19B EXON Missense_K394N,Missense_K395N exm41567 1 33478841 [T/C] NR_037591,NM_013411,NM_001199199,NM_001625,NR_037592 AK2,AK2,AK2,AK2,AK2 EXON Silent,Missense_A221T,Missense_A213T,Missense_A221T,Silent exm41601 1 33480161 [T/C] NR_037591,NM_013411,NM_001199199,NM_001625,NR_037592 AK2,AK2,AK2,AK2,AK2 EXON Silent,Missense_E154K,Missense_E146K,Missense_E154K,Silent exm41604 1 33487007 [T/C] NR_037591,NM_013411,NM_001199199,NM_001625,NR_037592 AK2,AK2,AK2,AK2,AK2 EXON Silent,Missense_S129N,Missense_S129N,Missense_S129N,Silent exm41606 1 33487277 [T/C] NR_037591,NM_013411,NM_001199199,NM_001625,NR_037592 AK2,AK2,AK2,AK2,AK2 EXON Silent,Missense_I83V,Missense_I83V,Missense_I83V,Silent exm41608 1 33487300 [A/C] NR_037591,NM_013411,NM_001199199,NM_001625,NR_037592 AK2,AK2,AK2,AK2,AK2 EXON Silent,Missense_S75I,Missense_S75I,Missense_S75I,Silent exm41623 1 33547930 [C/G] NM_052998 ADC EXON Missense_T27S exm41642 1 33557731 [G/C] NM_052998 ADC EXON Missense_Q120H exm41643 1 33557813 [T/C] NM_052998 ADC EXON Missense_P148S exm41647 1 33558992 [A/C] NM_052998 ADC EXON Missense_H188N exm41648 1 33558996 [A/C] NM_052998 ADC EXON Missense_H189P exm41658 1 33560210 [T/C] NM_052998 ADC EXON Missense_R217W exm41660 1 33560234 [A/G] NM_052998 ADC EXON Missense_E225K exm41661 1 33560247 [A/G] NM_052998 ADC EXON Missense_K229R exm41664 1 33560294 [A/G] NM_052998 ADC EXON Missense_A245T exm41667 1 33562312 [T/C] NM_052998 ADC EXON Missense_A253V exm41676 1 33562416 [T/G] NM_052998 ADC EXON Missense_A288S exm41678 1 33562469 [A/G] NM_052998 ADC EXON Synonymous_E305E exm41683 1 33563718 [A/G] NM_052998 ADC EXON Missense_V323M exm41687 1 33583504 [A/C] NM_052998 ADC EXON Missense_K344T exm41693 1 33583572 [A/G] NM_052998 ADC EXON Missense_V367M exm41696 1 33583621 [T/G] NM_052998 ADC EXON Missense_V383G exm41697 1 33583633 [T/C] NM_052998 ADC EXON Missense_M387T exm41708 1 33585671 [T/C] NM_052998 ADC EXON Missense_A424V exm41711 1 33585691 [A/G] NM_052998 ADC EXON Missense_V431M exm41720 1 33612789 [T/C] NM_018207 TRIM62 EXON Missense_V473I exm41721 1 33612800 [T/C] NM_018207 TRIM62 EXON Missense_R469Q exm41722 1 33612827 [A/G] NM_018207 TRIM62 EXON Missense_A460V exm41727 1 33612978 [A/G] NM_018207 TRIM62 EXON Missense_R410W exm41735 1 33613055 [T/C] NM_018207 TRIM62 EXON Missense_R384H exm2251412 1 33613249 [A/G] NM_018207 TRIM62 EXON Synonymous_Y319Y exm41755 1 33625328 [T/C] NM_018207 TRIM62 EXON Missense_R241Q exm41756 1 33625329 [A/G] NM_018207 TRIM62 EXON Missense_R241W exm41757 1 33625332 [T/C] NM_018207 TRIM62 EXON Missense_D240N exm41758 1 33625344 [T/G] NM_018207 TRIM62 EXON Missense_L236M exm41764 1 33625445 [A/G] NM_018207 TRIM62 EXON Missense_A202V exm41766 1 33625490 [T/C] NM_018207 TRIM62 EXON Missense_R187Q exm41768 1 33625515 [T/C] NM_018207 TRIM62 EXON Missense_G179S exm2251414 1 33631087 [T/C] NM_018207 TRIM62 EXON Synonymous_Q163Q exm41773 1 33631124 [T/C] NM_018207 TRIM62 EXON Missense_R151Q exm41806 1 33745781 [A/G] NM_152493 ZNF362 EXON Missense_A136T exm41812 1 33745937 [G/C] NM_152493 ZNF362 EXON Missense_P188A exm41834 1 33764585 [A/G] NM_152493 ZNF362 EXON Missense_S401G exm41836 1 33764618 [A/G] NM_152493 ZNF362 EXON Missense_G412S exm41909 1 33794564 [A/G] NM_198040,NM_004427 PHC2,PHC2 EXON Missense_R777W,Missense_R242W exm2251422 1 33796081 [A/C] NM_198040,NM_004427 PHC2,PHC2 Silent,Silent exm41947 1 33799858 [A/G] NM_198040,NM_004427 PHC2,PHC2 EXON Missense_L531F,Silent exm41954 1 33820016 [A/G] NM_198040 PHC2 EXON Missense_P514L exm41964 1 33820134 [T/C] NM_198040 PHC2 EXON Missense_V475M exm41965 1 33820146 [T/C] NM_198040 PHC2 EXON Missense_D471N exm41968 1 33820513 [T/C] NM_198040 PHC2 EXON Missense_V440M exm41977 1 33820632 [A/G] NM_198040 PHC2 EXON Missense_P400L exm41979 1 33820731 [T/C] NM_198040 PHC2 EXON Missense_R367Q exm41998 1 33832782 [A/G] NM_198040 PHC2 EXON Missense_M304T exm41999 1 33832798 [T/G] NM_198040 PHC2 EXON Missense_S299R exm1795915 1 33832873 [T/C] NM_198040 PHC2 EXON Missense_A274T exm42006 1 33832933 [A/G] NM_198040 PHC2 EXON Missense_P254S exm42007 1 33832941 [A/G] NM_198040 PHC2 EXON Missense_A251V exm42016 1 33836164 [A/G] NM_198040 PHC2 EXON Missense_A145V exm42041 1 33944993 [A/G] NM_145238 ZSCAN20 EXON Missense_K35R exm42043 1 33945011 [A/G] NM_145238 ZSCAN20 EXON Missense_R41H exm42044 1 33945026 [A/G] NM_145238 ZSCAN20 EXON Missense_G46D exm42049 1 33945143 [A/G] NM_145238 ZSCAN20 EXON Missense_R85H exm42061 1 33954167 [A/C] NM_145238 ZSCAN20 EXON Missense_Q174K exm42071 1 33955178 [A/G] NM_145238 ZSCAN20 EXON Missense_D248N exm42074 1 33955193 [A/G] NM_145238 ZSCAN20 EXON Missense_V253M exm42085 1 33956900 [T/C] NM_145238 ZSCAN20 EXON Missense_R348W exm42091 1 33956976 [T/C] NM_145238 ZSCAN20 EXON Missense_L373P exm42100 1 33957140 [A/C] NM_145238 ZSCAN20 EXON Missense_P428T exm42103 1 33957152 [T/G] NM_145238 ZSCAN20 EXON Missense_Y432D exm42116 1 33958910 [A/G] NM_145238 ZSCAN20 EXON Missense_R523Q exm42127 1 33960031 [A/G] NM_145238 ZSCAN20 EXON Missense_K696R exm42132 1 33960082 [A/C] NM_145238 ZSCAN20 EXON Missense_D713A exm42133 1 33960087 [T/G] NM_145238 ZSCAN20 EXON Missense_C715G exm42137 1 33960171 [T/G] NM_145238 ZSCAN20 EXON Missense_C743G exm1796198 1 33960568 [A/G] NM_145238 ZSCAN20 EXON Missense_Y875C exm1796201 1 33960663 [A/G] NM_145238 ZSCAN20 EXON Missense_E907K exm42156 1 33960715 [T/C] NM_145238 ZSCAN20 EXON Missense_T924I exm42162 1 33960901 [T/C] NM_145238 ZSCAN20 EXON Missense_P986L exm42169 1 33985177 [T/C] NM_052896 CSMD2 EXON Missense_T3469A exm42183 1 33988963 [A/G] NM_052896 CSMD2 EXON Missense_P3341S exm42187 1 33988996 [A/G] NM_052896 CSMD2 EXON Missense_H3330Y exm42190 1 33990500 [T/C] NM_052896 CSMD2 EXON Missense_V3316M exm42193 1 33990586 [T/C] NM_052896 CSMD2 EXON Missense_G3287E exm42198 1 33992823 [A/G] NM_052896 CSMD2 EXON Missense_R3259W exm42210 1 33998799 [A/G] NM_052896 CSMD2 EXON Missense_T3197M exm42211 1 33999413 [T/G] NM_052896 CSMD2 EXON Missense_T3181N exm42213 1 33999455 [A/G] NM_052896 CSMD2 EXON Missense_S3167F exm42222 1 34003089 [T/C] NM_052896 CSMD2 EXON Missense_R3107H exm1796277 1 34003176 [T/C] NM_052896 CSMD2 EXON Missense_R3078H exm42230 1 34006182 [T/C] NM_052896 CSMD2 EXON Missense_A3048T exm42235 1 34006739 [T/C] NM_052896 CSMD2 EXON Missense_V3006I exm42244 1 34008403 [T/C] NM_052896 CSMD2 EXON Missense_R2921Q exm42254 1 34011702 [T/C] NM_052896 CSMD2 EXON Missense_R2868Q exm42259 1 34011799 [T/C] NM_052896 CSMD2 EXON Missense_G2836S exm42264 1 34015851 [T/C] NM_052896 CSMD2 EXON Missense_R2804H exm42266 1 34015872 [T/C] NM_052896 CSMD2 EXON Missense_R2797Q exm42272 1 34033273 [C/G] NM_052896 CSMD2 EXON Missense_A2744G exm42277 1 34033352 [A/T] NM_052896 CSMD2 EXON Missense_T2718S exm42279 1 34034977 [A/G] NM_052896 CSMD2 EXON Missense_L2712F exm42282 1 34035009 [T/C] NM_052896 CSMD2 EXON Missense_N2701S exm42284 1 34035105 [T/C] NM_052896 CSMD2 EXON Missense_R2669H exm42285 1 34035114 [T/C] NM_052896 CSMD2 EXON Missense_N2666S exm42290 1 34035130 [C/G] NM_052896 CSMD2 EXON Missense_L2661V exm42293 1 34037185 [T/C] NM_052896 CSMD2 EXON Missense_R2637H exm42298 1 34037294 [T/C] NM_052896 CSMD2 EXON Missense_V2601M exm42303 1 34038214 [T/C] NM_052896 CSMD2 EXON Missense_M2554V exm42304 1 34038260 [A/C] NM_052896 CSMD2 EXON Missense_K2538N exm42308 1 34042937 [T/C] NM_052896 CSMD2 EXON Missense_Q2514R exm42315 1 34046406 [T/C] NM_052896 CSMD2 EXON Missense_R2447H exm42323 1 34052119 [A/G] NM_052896 CSMD2 EXON Missense_P2348S exm42329 1 34052721 [T/C] NM_052896 CSMD2 EXON Missense_E2304K exm42338 1 34066506 [T/C] NM_052896 CSMD2 EXON Missense_R2274H exm42342 1 34066566 [T/C] NM_052896 CSMD2 EXON Missense_R2254Q exm42343 1 34066567 [A/G] NM_052896 CSMD2 EXON Missense_R2254W exm42344 1 34066576 [T/C] NM_052896 CSMD2 EXON Missense_V2251I exm42353 1 34068098 [A/G] NM_052896 CSMD2 EXON Missense_P2196L exm42355 1 34068114 [T/C] NM_052896 CSMD2 EXON Missense_G2191S exm42368 1 34071065 [T/C] NM_052896 CSMD2 EXON Missense_E2119K exm42372 1 34071489 [A/C] NM_052896 CSMD2 EXON Missense_V2108G exm42374 1 34071493 [A/G] NM_052896 CSMD2 EXON Missense_Y2107H exm2233220 1 34071507 [G/C] NM_052896 CSMD2 EXON Missense_P2102R exm42377 1 34071525 [T/C] NM_052896 CSMD2 EXON Missense_R2096K exm42382 1 34076667 [T/C] NM_052896 CSMD2 EXON Missense_R2066Q exm42387 1 34076740 [T/C] NM_052896 CSMD2 EXON Missense_E2042K exm42397 1 34080121 [A/G] NM_052896 CSMD2 EXON Missense_A1999V exm42418 1 34090145 [T/C] NM_052896 CSMD2 EXON Missense_V1827M exm42421 1 34090660 [T/C] NM_052896 CSMD2 EXON Missense_T1791A exm1796402 1 34090665 [T/G] NM_052896 CSMD2 EXON Missense_A1789E exm42423 1 34090696 [A/G] NM_052896 CSMD2 EXON Missense_P1779S exm42430 1 34090765 [T/C] NM_052896 CSMD2 EXON Missense_I1756V exm42437 1 34092131 [T/C] NM_052896 CSMD2 EXON Missense_A1711T exm42441 1 34099057 [A/G] NM_052896 CSMD2 EXON Missense_S1682L exm42447 1 34100871 [T/G] NM_052896 CSMD2 EXON Missense_Q1637K exm42469 1 34112263 [T/C] NM_052896 CSMD2 EXON Missense_V1547I exm1796425 1 34112395 [T/C] NM_052896 CSMD2 EXON Missense_D1503N exm42495 1 34128652 [T/C] NM_052896 CSMD2 EXON Missense_V1325M exm42498 1 34158543 [T/C] NM_052896 CSMD2 EXON Missense_G1307S exm42504 1 34164368 [C/G] NM_052896 CSMD2 EXON Missense_L1264V exm42512 1 34166210 [T/C] NM_052896 CSMD2 EXON Missense_G1174R exm42514 1 34166249 [T/C] NM_052896 CSMD2 EXON Missense_A1161T exm42518 1 34174789 [T/C] NM_052896 CSMD2 EXON Missense_N1119S exm42526 1 34180264 [T/C] NM_052896 CSMD2 EXON Missense_R1070H exm2233233 1 34190185 [A/G] NM_052896 CSMD2 EXON Missense_L899S exm2251442 1 34190199 [A/G] NM_052896 CSMD2 EXON Synonymous_D894D exm42554 1 34190239 [T/C] NM_052896 CSMD2 EXON Missense_N881S exm42556 1 34190951 [G/C] NM_052896 CSMD2 EXON Missense_E858D exm1796680 1 34190962 [A/G] NM_052896 CSMD2 EXON Missense_L855F exm2251443 1 34192255 [A/G] NM_052896 CSMD2 EXON Synonymous_S760S exm42576 1 34204887 [T/C] NM_052896 CSMD2 EXON Missense_K701R exm2268876 1 34208399 [T/G] NM_052896 CSMD2 Silent exm42585 1 34209004 [T/C] NM_052896 CSMD2 EXON Missense_V644I exm42603 1 34238283 [T/C] NM_052896 CSMD2 EXON Missense_H538R exm-rs476463 1 34248064 [A/G] NM_052896 CSMD2 Silent exm42608 1 34254272 [T/C] NM_052896 CSMD2 EXON Missense_N491S exm42612 1 34254288 [G/C] NM_052896 CSMD2 EXON Missense_L486V exm42617 1 34258060 [T/C] NM_052896 CSMD2 EXON Missense_G465D exm42619 1 34258088 [T/C] NM_052896 CSMD2 EXON Missense_G456S exm42630 1 34276432 [A/G] NM_052896 CSMD2 EXON Missense_S413L exm42638 1 34286107 [T/C] NM_052896 CSMD2 EXON Missense_I348V exm42648 1 34291367 [T/G] NM_052896 CSMD2 EXON Missense_Q308K exm42661 1 34329929 [T/C] NM_052896,NM_145205,NR_033264 CSMD2,HMGB4,HMGB4 EXON Silent,Missense_S46L,Silent exm42667 1 34330046 [A/G] NM_052896,NM_145205,NR_033264 CSMD2,HMGB4,HMGB4 EXON Silent,Missense_R85Q,Silent exm42668 1 34330067 [A/C] NM_052896,NM_145205,NR_033264 CSMD2,HMGB4,HMGB4 EXON Silent,Missense_E92A,Silent exm42669 1 34330070 [T/C] NM_052896,NM_145205,NR_033264 CSMD2,HMGB4,HMGB4 EXON Silent,Missense_P93L,Silent exm42672 1 34330096 [A/C] NM_052896,NM_145205,NR_033264 CSMD2,HMGB4,HMGB4 EXON Silent,Missense_L102I,Silent exm42675 1 34330137 [A/C] NM_052896,NM_145205,NR_033264 CSMD2,HMGB4,HMGB4 EXON Silent,Missense_N115K,Silent exm42677 1 34330200 [C/G] NM_052896,NM_145205,NR_033264 CSMD2,HMGB4,HMGB4 EXON Silent,Missense_D136E,Silent exm42690 1 34330300 [T/C] NM_052896,NM_145205,NR_033264 CSMD2,HMGB4,HMGB4 EXON Silent,Missense_Y170H,Silent exm42691 1 34330321 [T/C] NM_052896,NM_145205,NR_033264 CSMD2,HMGB4,HMGB4 EXON Silent,Missense_R177W,Silent exm-rs2281597 1 34359858 [C/G] NM_052896 CSMD2 Silent exm2264819 1 34372503 [A/G] NM_052896 CSMD2 Silent exm42707 1 34401453 [A/G] NM_052896 CSMD2 EXON Missense_L167P exm42711 1 34401554 [A/G] NM_052896 CSMD2 EXON Synonymous_V133V exm42719 1 34554603 [G/C] NM_052896 CSMD2 EXON Missense_P87A exm42722 1 34554680 [T/C] NM_052896 CSMD2 EXON Missense_Q61R exm42736 1 34631356 [A/C] NM_052896 CSMD2 EXON Missense_R20I exm42740 1 34643413 [T/C] NM_032884,NM_001134734 C1orf94,C1orf94 EXON Silent,Missense_V8A exm42746 1 34662836 [T/C] NM_032884,NM_001134734 C1orf94,C1orf94 EXON Silent,Missense_L111F exm42750 1 34662914 [A/G] NM_032884,NM_001134734 C1orf94,C1orf94 EXON Silent,Missense_V137I exm42751 1 34662919 [A/C] NM_032884,NM_001134734 C1orf94,C1orf94 EXON Silent,Missense_E138D exm42757 1 34663143 [A/C] NM_032884,NM_001134734 C1orf94,C1orf94 EXON Missense_A23D,Missense_A213D exm2251459 1 34663180 [A/G] NM_032884,NM_001134734 C1orf94,C1orf94 EXON Synonymous_R35R,Synonymous_R225R exm42765 1 34663208 [G/C] NM_032884,NM_001134734 C1orf94,C1orf94 EXON Missense_Q45E,Missense_Q235E exm42768 1 34663340 [A/G] NM_032884,NM_001134734 C1orf94,C1orf94 EXON Missense_G89R,Missense_G279R exm42773 1 34663411 [G/C] NM_032884,NM_001134734 C1orf94,C1orf94 EXON Missense_D112E,Missense_D302E exm42777 1 34663482 [A/C] NM_032884,NM_001134734 C1orf94,C1orf94 EXON Missense_A136D,Missense_A326D exm42779 1 34666374 [A/G] NM_032884,NM_001134734 C1orf94,C1orf94 EXON Synonymous_E147E,Synonymous_E337E exm42795 1 34666582 [A/G] NM_032884,NM_001134734 C1orf94,C1orf94 EXON Missense_G217R,Missense_G407R exm42796 1 34666589 [T/C] NM_032884,NM_001134734 C1orf94,C1orf94 EXON Missense_P219L,Missense_P409L exm42804 1 34667724 [A/G] NM_032884,NM_001134734 C1orf94,C1orf94 EXON Missense_K247R,Missense_K437R exm42805 1 34667736 [T/A] NM_032884,NM_001134734 C1orf94,C1orf94 EXON Missense_N251I,Missense_N441I exm42806 1 34667772 [T/C] NM_032884,NM_001134734 C1orf94,C1orf94 EXON Missense_S263L,Missense_S453L exm42808 1 34667802 [A/G] NM_032884,NM_001134734 C1orf94,C1orf94 EXON Missense_N273S,Missense_N463S exm42816 1 34677815 [T/C] NM_032884,NM_001134734 C1orf94,C1orf94 EXON Missense_M320T,Missense_M510T exm42826 1 34678007 [T/G] NM_032884,NM_001134734 C1orf94,C1orf94 EXON Missense_G384V,Missense_G574V exm2251474 1 35049252 [A/G] exm42858 1 35222995 [T/C] NM_005268 GJB5 EXON Missense_R22C exm42859 1 35223025 [T/C] NM_005268 GJB5 EXON Missense_R32C exm42867 1 35223118 [A/G] NM_005268 GJB5 EXON Missense_V63I exm42872 1 35223223 [T/C] NM_005268 GJB5 EXON Missense_R98W exm42873 1 35223224 [A/G] NM_005268 GJB5 EXON Missense_R98Q exm42885 1 35223361 [A/G] NM_005268 GJB5 EXON Missense_A144T exm42891 1 35223502 [A/G] NM_005268 GJB5 EXON Missense_V191M exm42892 1 35223509 [T/C] NM_005268 GJB5 EXON Missense_T193I exm42901 1 35223719 [A/G] NM_005268 GJB5 EXON Missense_R263H exm42909 1 35226892 [A/G] NM_153212 GJB4 EXON Missense_V13M exm42915 1 35226949 [T/C] NM_153212 GJB4 EXON Missense_R32C exm42917 1 35226964 [A/G] NM_153212 GJB4 EXON Missense_V37M exm42932 1 35227062 [C/G] NM_153212 GJB4 EXON Missense_F69L exm42936 1 35227078 [T/C] NM_153212 GJB4 EXON Missense_R75C exm42937 1 35227079 [A/G] NM_153212 GJB4 EXON Missense_R75H exm42939 1 35227093 [T/C] NM_153212 GJB4 EXON Nonsense_Q80X exm42941 1 35227109 [T/C] NM_153212 GJB4 EXON Missense_T85M exm42944 1 35227147 [T/C] NM_153212 GJB4 EXON Missense_R98C exm42951 1 35227162 [T/C] NM_153212 GJB4 EXON Missense_R103C exm42958 1 35227226 [A/G] NM_153212 GJB4 EXON Missense_R124Q exm42961 1 35227239 [A/G] NM_153212 GJB4 EXON Nonsense_W128X exm42962 1 35227241 [A/G] NM_153212 GJB4 EXON Nonsense_W129X exm42963 1 35227244 [T/C] NM_153212 GJB4 EXON Missense_T130M exm42967 1 35227276 [A/G] NM_153212 GJB4 EXON Missense_V141M exm2251479 1 35227350 [T/C] NM_153212 GJB4 EXON Synonymous_S165S exm42977 1 35227362 [C/G] NM_153212 GJB4 EXON Missense_C169W exm42980 1 35227397 [T/C] NM_153212 GJB4 EXON Missense_T181M exm42984 1 35227466 [A/C] NM_153212 GJB4 EXON Missense_E204A exm42989 1 35227522 [T/C] NM_153212 GJB4 EXON Missense_R223W exm43007 1 35250457 [T/C] NM_024009,NM_001005752 GJB3,GJB3 EXON Missense_R32W,Missense_R32W exm43009 1 35250472 [A/G] NM_024009,NM_001005752 GJB3,GJB3 EXON Missense_V37M,Missense_V37M exm43011 1 35250486 [T/G] NM_024009,NM_001005752 GJB3,GJB3 EXON Missense_E41D,Missense_E41D exm43016 1 35250550 [A/G] NM_024009,NM_001005752 GJB3,GJB3 EXON Missense_V63I,Missense_V63I exm1798193 1 35250613 [A/G] NM_024009,NM_001005752 GJB3,GJB3 EXON Missense_V84I,Missense_V84I exm43024 1 35250643 [A/C] NM_024009,NM_001005752 GJB3,GJB3 EXON Missense_H94N,Missense_H94N exm43029 1 35250671 [A/G] NM_024009,NM_001005752 GJB3,GJB3 EXON Missense_R103H,Missense_R103H exm43030 1 35250674 [A/G] NM_024009,NM_001005752 GJB3,GJB3 EXON Missense_R104Q,Missense_R104Q exm43047 1 35250892 [T/G] NM_024009,NM_001005752 GJB3,GJB3 EXON Missense_Y177D,Missense_Y177D exm2275321 1 35250901 [T/C] NM_024009,NM_001005752 GJB3,GJB3 EXON Nonsense_R180X,Nonsense_R180X exm43048 1 35250910 [A/G] NM_024009,NM_001005752 GJB3,GJB3 EXON Missense_E183K,Missense_E183K exm43051 1 35250943 [A/G] NM_024009,NM_001005752 GJB3,GJB3 EXON Missense_A194T,Missense_A194T exm43056 1 35250961 [A/G] NM_024009,NM_001005752 GJB3,GJB3 EXON Missense_V200I,Missense_V200I exm1798210 1 35251009 [T/C] NM_024009,NM_001005752 GJB3,GJB3 EXON Nonsense_R216X,Nonsense_R216X exm43060 1 35251033 [C/G] NM_024009,NM_001005752 GJB3,GJB3 EXON Missense_R224G,Missense_R224G exm43064 1 35251075 [A/C] NM_024009,NM_001005752 GJB3,GJB3 EXON Missense_T238P,Missense_T238P exm43067 1 35251154 [T/C] NM_024009,NM_001005752 GJB3,GJB3 EXON Missense_A264V,Missense_A264V exm43084 1 35260202 [A/G] NM_002060 GJA4 EXON Missense_V130I exm43100 1 35260527 [A/G] NM_002060 GJA4 EXON Missense_R238Q exm43113 1 35260760 [A/G] NM_002060 GJA4 EXON Missense_G316S exm43114 1 35260769 [T/C] NM_002060 GJA4 EXON Missense_P319S exm43115 1 35260773 [T/C] NM_002060 GJA4 EXON Missense_P320L exm43116 1 35260779 [A/G] NM_002060 GJA4 EXON Missense_R322H exm43164 1 35334283 [T/C] NM_001080418 DLGAP3 EXON Missense_R803Q exm43213 1 35351706 [T/G] NM_001080418 DLGAP3 EXON Missense_T523P exm2233245 1 35365779 [T/C] NM_001080418 DLGAP3 EXON Missense_M401I exm43238 1 35370053 [T/C] NM_001080418 DLGAP3 EXON Missense_R311H exm43251 1 35370204 [A/C] NM_001080418 DLGAP3 EXON Missense_W261G exm2273630 1 35370344 [A/G] NM_001080418 DLGAP3 EXON Missense_P214L exm43261 1 35370419 [A/G] NM_001080418 DLGAP3 EXON Missense_A189V exm43267 1 35370549 [T/C] NM_001080418 DLGAP3 EXON Missense_A146T exm2268877 1 35384605 [T/C] exm43298 1 35447598 [C/G] NM_001195156 ZMYM6NB EXON Missense_V138L exm43329 1 35453651 [A/C] NM_007167 ZMYM6 EXON Missense_F1011C exm43335 1 35453771 [T/G] NM_007167 ZMYM6 EXON Missense_N971T exm43355 1 35454473 [G/C] NM_007167 ZMYM6 EXON Missense_R737T exm43357 1 35454498 [A/C] NM_007167 ZMYM6 EXON Missense_D729Y exm43361 1 35457895 [T/C] NM_007167 ZMYM6 EXON Missense_V696I exm43365 1 35457971 [A/C] NM_007167 ZMYM6 EXON Missense_D670E exm43367 1 35469582 [T/C] NM_007167 ZMYM6 EXON Missense_K660R exm43368 1 35470798 [T/C] NM_007167 ZMYM6 EXON Missense_S630N exm43374 1 35472659 [G/C] NM_007167 ZMYM6 EXON Missense_S569T exm43383 1 35474493 [C/G] NM_007167 ZMYM6 EXON Missense_E509Q exm43391 1 35476384 [A/G] NM_007167 ZMYM6 EXON Missense_T439I exm43398 1 35476544 [T/C] NM_007167 ZMYM6 EXON Missense_V386M exm43400 1 35476588 [A/G] NM_007167 ZMYM6 EXON Missense_S371F exm43405 1 35476609 [T/G] NM_007167 ZMYM6 EXON Missense_N364T exm43413 1 35478154 [A/G] NM_007167 ZMYM6 EXON Missense_L275P exm43419 1 35480426 [T/C] NM_007167 ZMYM6 EXON Missense_K223E exm43420 1 35480455 [T/C] NM_007167 ZMYM6 EXON Missense_H213R exm43421 1 35480456 [A/G] NM_007167 ZMYM6 EXON Missense_H213Y exm43432 1 35485065 [T/C] NM_007167 ZMYM6 EXON Missense_Y106C exm43435 1 35485128 [A/G] NM_007167 ZMYM6 EXON Missense_A85V exm43437 1 35485152 [T/C] NM_007167 ZMYM6 EXON Missense_S77N exm43438 1 35485167 [A/G] NM_007167 ZMYM6 EXON Missense_A72V exm43439 1 35485203 [G/C] NM_007167 ZMYM6 EXON Missense_A60G exm43440 1 35486022 [T/G] NM_007167 ZMYM6 EXON Missense_K47T exm1798677 1 35496149 [T/C] NM_007167 ZMYM6 EXON Missense_Q31R exm43444 1 35496159 [C/G] NM_007167 ZMYM6 EXON Missense_D28H exm43447 1 35496174 [T/C] NM_007167 ZMYM6 EXON Missense_I23V exm43448 1 35559598 [A/C] NM_024772 ZMYM1 EXON Missense_P4T exm43457 1 35562965 [A/G] NM_024772 ZMYM1 EXON Missense_V73M exm43481 1 35577702 [T/G] NM_024772 ZMYM1 EXON Missense_V373L exm43494 1 35578752 [A/G] NM_024772 ZMYM1 EXON Missense_K441E exm43496 1 35578792 [A/G] NM_024772 ZMYM1 EXON Missense_R454Q exm43497 1 35578846 [A/G] NM_024772 ZMYM1 EXON Missense_K472R exm2273631 1 35578909 [A/G] NM_024772 ZMYM1 EXON Missense_E493G exm43514 1 35579565 [A/C] NM_024772 ZMYM1 EXON Missense_H712N exm43517 1 35579678 [T/G] NM_024772 ZMYM1 EXON Missense_F749L exm43521 1 35579751 [T/G] NM_024772 ZMYM1 EXON Missense_L774V exm43523 1 35579797 [A/G] NM_024772 ZMYM1 EXON Missense_R789Q exm43525 1 35579869 [A/G] NM_024772 ZMYM1 EXON Missense_D813G exm43539 1 35580483 [A/G] NM_024772 ZMYM1 EXON Missense_K1018E exm43548 1 35580706 [A/G] NM_024772 ZMYM1 EXON Missense_R1092H exm43553 1 35580837 [A/G] NM_024772 ZMYM1 EXON Missense_I1136V exm2264999 1 35636227 [A/G] exm43561 1 35652634 [T/C] NM_005066 SFPQ EXON Missense_T652A exm-rs11264115 1 35656664 [A/G] NM_005066 SFPQ Silent exm-rs673604 1 35687815 [T/C] exm43699 1 35824639 [A/C] NM_005095 ZMYM4 EXON Missense_L67M exm43701 1 35824694 [T/G] NM_005095 ZMYM4 EXON Missense_V85G exm43702 1 35824706 [A/G] NM_005095 ZMYM4 EXON Missense_N89S exm43703 1 35824753 [A/G] NM_005095 ZMYM4 EXON Missense_I105V exm2268673 1 35833787 [T/G] NM_005095 ZMYM4 Silent exm43727 1 35835984 [A/G] NM_005095 ZMYM4 EXON Missense_T313A exm43741 1 35847032 [A/G] NM_005095 ZMYM4 EXON Missense_V452I exm43745 1 35847342 [A/G] NM_005095 ZMYM4 EXON Missense_I518V exm43746 1 35847346 [T/C] NM_005095 ZMYM4 EXON Missense_T519M exm1798822 1 35852791 [A/G] NM_005095 ZMYM4 EXON Missense_H675R exm43764 1 35852842 [A/G] NM_005095 ZMYM4 EXON Missense_R692H exm43766 1 35853110 [A/G] NM_005095 ZMYM4 EXON Missense_N723S exm43787 1 35858280 [A/G] NM_005095 ZMYM4 EXON Missense_G921S exm43794 1 35862185 [A/G] NM_005095 ZMYM4 EXON Missense_V982M exm2273632 1 35863134 [G/C] NM_005095 ZMYM4 EXON Missense_L1063V exm43815 1 35870639 [A/G] NM_005095 ZMYM4 EXON Missense_I1182V exm43816 1 35870649 [T/G] NM_005095 ZMYM4 EXON Missense_V1185G exm43823 1 35870777 [C/G] NM_005095 ZMYM4 EXON Missense_G1228R exm43827 1 35871036 [G/C] NM_005095 ZMYM4 EXON Missense_L1255V exm43829 1 35873611 [T/C] NM_005095 ZMYM4 EXON Missense_R1267C exm43843 1 35881138 [A/G] NM_005095 ZMYM4 EXON Missense_V1378I exm1798848 1 35884083 [A/G] NM_005095 ZMYM4 EXON Missense_D1450G exm43856 1 35900520 [T/C] NM_024874 KIAA0319L EXON Missense_R1042K exm43870 1 35907899 [T/C] NM_024874 KIAA0319L EXON Missense_I940V exm1798860 1 35913808 [T/C] NM_024874 KIAA0319L EXON Missense_I827V exm43885 1 35913889 [T/C] NM_024874 KIAA0319L EXON Missense_V800I exm43889 1 35915492 [A/G] NM_024874 KIAA0319L EXON Missense_R777W exm43900 1 35919165 [T/C] NM_024874 KIAA0319L EXON Missense_K636E exm43935 1 35940497 [T/G] NM_024874 KIAA0319L EXON Missense_E308D exm43936 1 35944573 [A/G] NM_024874 KIAA0319L EXON Missense_Y303H exm43940 1 35944752 [T/C] NM_024874 KIAA0319L EXON Missense_G243D exm1798894 1 35944780 [T/C] NM_024874 KIAA0319L EXON Missense_T234A exm43944 1 35972250 [T/C] NM_024874 KIAA0319L EXON Missense_N210S exm43966 1 36020085 [T/G] NM_024874 KIAA0319L EXON Missense_K3T exm43970 1 36023817 [T/C] NM_001014841,NM_014284,NM_001014839 NCDN,NCDN,NCDN EXON Silent,Missense_A9V,Missense_A9V exm43990 1 36026317 [A/G] NM_001014841,NM_014284,NM_001014839 NCDN,NCDN,NCDN EXON Missense_G172S,Missense_G189S,Missense_G189S exm43999 1 36026509 [A/G] NM_001014841,NM_014284,NM_001014839 NCDN,NCDN,NCDN EXON Missense_V236M,Missense_V253M,Missense_V253M exm2233264 1 36026749 [T/G] NM_001014841,NM_014284,NM_001014839 NCDN,NCDN,NCDN EXON Missense_V316L,Missense_V333L,Missense_V333L exm44009 1 36026872 [T/G] NM_001014841,NM_014284,NM_001014839 NCDN,NCDN,NCDN EXON Missense_A357S,Missense_A374S,Missense_A374S exm44012 1 36028198 [T/C] NM_001014841,NM_014284,NM_001014839 NCDN,NCDN,NCDN EXON Missense_T433I,Missense_T450I,Missense_T450I exm44036 1 36030912 [T/C] NM_001014841,NM_014284,NM_001014839 NCDN,NCDN,NCDN EXON Missense_P596L,Missense_P613L,Missense_P613L exm44075 1 36040566 [G/C] NM_178548 TFAP2E EXON Missense_G176A exm44081 1 36053996 [A/G] NM_178548 TFAP2E EXON Missense_G210S exm44087 1 36054078 [T/C] NM_178548 TFAP2E EXON Missense_T237M exm44098 1 36055616 [A/G] NM_178548 TFAP2E EXON Missense_A291T exm44100 1 36055638 [T/C] NM_178548 TFAP2E EXON Missense_S298L exm44104 1 36056243 [A/G] NM_178548 TFAP2E EXON Missense_V305M exm44106 1 36056256 [A/G] NM_178548 TFAP2E EXON Missense_R309Q exm44108 1 36056280 [T/C] NM_178548 TFAP2E EXON Missense_T317M exm44110 1 36056327 [A/G] NM_178548 TFAP2E EXON Missense_A333T exm44114 1 36056349 [A/G] NM_178548 TFAP2E EXON Missense_S340N exm44116 1 36060035 [T/C] NM_178548 TFAP2E EXON Missense_R363C exm44117 1 36060036 [A/G] NM_178548 TFAP2E EXON Missense_R363H exm44120 1 36060056 [T/C] NM_178548 TFAP2E EXON Missense_R370C exm44127 1 36068872 [T/G] NM_002794,NM_001199780,NM_001199779 PSMB2,PSMB2,PSMB2 EXON Missense_S201Y,Missense_S84Y,Missense_S176Y exm44137 1 36074906 [A/G] NM_002794,NM_001199780,NM_001199779 PSMB2,PSMB2,PSMB2 EXON Missense_A130V,Missense_A13V,Missense_A105V exm44140 1 36074927 [A/G] NM_002794,NM_001199780,NM_001199779 PSMB2,PSMB2,PSMB2 EXON Missense_A123V,Missense_A6V,Missense_A98V exm44162 1 36181316 [C/G] NM_152374 C1orf216 EXON Missense_D203H exm1799051 1 36181354 [T/C] NM_152374 C1orf216 EXON Missense_Q190R exm44171 1 36181480 [A/G] NM_152374 C1orf216 EXON Missense_A148V exm44174 1 36181502 [T/C] NM_152374 C1orf216 EXON Missense_D141N exm44177 1 36181522 [T/G] NM_152374 C1orf216 EXON Missense_P134Q exm44180 1 36181610 [A/C] NM_152374 C1orf216 EXON Missense_C105G exm44187 1 36181807 [A/G] NM_152374 C1orf216 EXON Missense_A39V exm44188 1 36181813 [C/G] NM_152374 C1orf216 EXON Missense_A37G exm2273633 1 36181816 [A/C] NM_152374 C1orf216 EXON Missense_M36R exm44195 1 36181910 [A/G] NM_152374 C1orf216 EXON Nonsense_Q5X exm44205 1 36202585 [A/G] NM_022111,NM_001190481 CLSPN,CLSPN EXON Missense_S1280L,Missense_S1216L exm44207 1 36202965 [A/G] NM_022111,NM_001190481 CLSPN,CLSPN EXON Missense_A1241V,Missense_A1177V exm44210 1 36203016 [T/C] NM_022111,NM_001190481 CLSPN,CLSPN EXON Missense_R1224H,Missense_R1160H exm2275267 1 36204057 [A/G] NM_022111,NM_001190481 CLSPN,CLSPN EXON Missense_M1186T,Missense_M1122T exm44220 1 36204178 [A/C] NM_022111,NM_001190481 CLSPN,CLSPN EXON Missense_A1146S,Missense_A1082S exm1799107 1 36208757 [T/G] NM_022111,NM_001190481 CLSPN,CLSPN EXON Missense_K1043T,Missense_K979T exm44239 1 36211151 [A/G] NM_022111,NM_001190481 CLSPN,CLSPN EXON Missense_P956L,Missense_P892L exm44243 1 36212547 [T/G] NM_022111,NM_001190481 CLSPN,CLSPN EXON Missense_P892T,Missense_P828T exm44249 1 36213640 [A/G] NM_022111,NM_001190481 CLSPN,CLSPN EXON Missense_P832L,Missense_P768L exm44255 1 36214065 [T/C] NM_022111,NM_001190481 CLSPN,CLSPN EXON Missense_G805R,Missense_G741R exm44257 1 36214104 [T/G] NM_022111,NM_001190481 CLSPN,CLSPN EXON Missense_Q792K,Missense_Q728K exm44258 1 36214130 [A/C] NM_022111,NM_001190481 CLSPN,CLSPN EXON Missense_I783S,Missense_I719S exm44259 1 36214133 [A/G] NM_022111,NM_001190481 CLSPN,CLSPN EXON Missense_T782M,Missense_T718M exm44266 1 36215075 [T/G] NM_022111,NM_001190481 CLSPN,CLSPN EXON Missense_S755R,Missense_S691R exm1799127 1 36217000 [A/C] NM_022111,NM_001190481 CLSPN,CLSPN EXON Missense_G627W,Missense_G563W exm44287 1 36219385 [T/C] NM_022111,NM_001190481 CLSPN,CLSPN EXON Missense_A578T,Silent exm2251506 1 36219455 [A/G] NM_022111,NM_001190481 CLSPN,CLSPN EXON Synonymous_N554N,Silent exm44293 1 36219517 [A/G] NM_022111,NM_001190481 CLSPN,CLSPN EXON Missense_R534C,Silent exm2273635 1 36219528 [T/G] NM_022111,NM_001190481 CLSPN,CLSPN EXON Missense_A530D,Silent exm44294 1 36225948 [T/C] NM_022111,NM_001190481 CLSPN,CLSPN EXON Missense_N525S,Missense_N525S exm44300 1 36226120 [A/C] NM_022111,NM_001190481 CLSPN,CLSPN EXON Missense_D468Y,Missense_D468Y exm44301 1 36226161 [T/C] NM_022111,NM_001190481 CLSPN,CLSPN EXON Missense_H454R,Missense_H454R exm44306 1 36226317 [A/T] NM_022111,NM_001190481 CLSPN,CLSPN EXON Missense_V402E,Missense_V402E exm44309 1 36226419 [A/G] NM_022111,NM_001190481 CLSPN,CLSPN EXON Missense_T368I,Missense_T368I exm44310 1 36226432 [A/C] NM_022111,NM_001190481 CLSPN,CLSPN EXON Missense_G364C,Missense_G364C exm44316 1 36226755 [C/G] NM_022111,NM_001190481 CLSPN,CLSPN EXON Missense_D316H,Missense_D316H exm1799139 1 36226782 [A/G] NM_022111,NM_001190481 CLSPN,CLSPN EXON Missense_H307Y,Missense_H307Y exm44317 1 36226785 [A/G] NM_022111,NM_001190481 CLSPN,CLSPN EXON Missense_Y306H,Missense_Y306H exm1799141 1 36227601 [T/C] NM_022111,NM_001190481 CLSPN,CLSPN EXON Missense_R298Q,Missense_R298Q exm44320 1 36227664 [T/C] NM_022111,NM_001190481 CLSPN,CLSPN EXON Missense_K277R,Missense_K277R exm44336 1 36230196 [T/C] NM_022111,NM_001190481 CLSPN,CLSPN EXON Missense_E85K,Missense_E85K exm44341 1 36230258 [T/G] NM_022111,NM_001190481 CLSPN,CLSPN EXON Missense_D64A,Missense_D64A exm44344 1 36230839 [A/G] NM_022111,NM_001190481 CLSPN,CLSPN EXON Missense_I38T,Missense_I38T exm44351 1 36230911 [T/C] NM_022111,NM_001190481 CLSPN,CLSPN EXON Missense_N14S,Missense_N14S exm44354 1 36235452 [A/G] NM_022111,NM_001190481 CLSPN,CLSPN EXON Missense_S7F,Missense_S7F exm44355 1 36235455 [T/C] NM_022111,NM_001190481 CLSPN,CLSPN EXON Missense_G6D,Missense_G6D exm44356 1 36235464 [G/C] NM_022111,NM_001190481 CLSPN,CLSPN EXON Missense_G3A,Missense_G3A exm44373 1 36291389 [A/G] NM_017629 AGO4 EXON Missense_M200V exm44379 1 36297090 [T/A] NM_017629 AGO4 EXON Missense_Q304L exm44384 1 36297673 [A/G] NM_017629 AGO4 EXON Missense_M378V exm44393 1 36299761 [A/G] NM_017629 AGO4 EXON Missense_K517R exm44395 1 36306879 [A/C] NM_017629 AGO4 EXON Missense_H613P exm44404 1 36307020 [A/G] NM_017629 AGO4 EXON Missense_R660H exm44423 1 36319100 [T/C] NM_017629 AGO4 EXON Missense_A827V exm44431 1 36354031 [C/G] NM_012199 AGO1 EXON Missense_A10G exm44475 1 36380971 [A/C] NM_012199 AGO1 EXON Missense_H619P exm1799256 1 36432651 [A/G] NM_024852,NM_177422 AGO3,AGO3 EXON Missense_N96S,Silent exm44529 1 36474520 [A/G] NM_024852,NM_177422 AGO3,AGO3 EXON Missense_G302S,Missense_G68S exm44537 1 36474632 [A/C] NM_024852,NM_177422 AGO3,AGO3 EXON Missense_Y339S,Missense_Y105S exm44542 1 36479642 [A/G] NM_024852,NM_177422 AGO3,AGO3 EXON Missense_I467V,Missense_I233V exm44549 1 36499817 [A/C] NM_024852,NM_177422 AGO3,AGO3 EXON Missense_T545K,Missense_T311K exm44551 1 36499843 [A/G] NM_024852,NM_177422 AGO3,AGO3 EXON Missense_I554V,Missense_I320V exm44587 1 36550608 [A/G] NM_014466 TEKT2 EXON Missense_Q29R exm44589 1 36550643 [A/G] NM_014466 TEKT2 EXON Missense_E41K exm44591 1 36550658 [T/C] NM_014466 TEKT2 EXON Missense_R46C exm44598 1 36550788 [A/G] NM_014466 TEKT2 EXON Missense_R61G exm44601 1 36550851 [C/G] NM_014466 TEKT2 EXON Missense_L82V exm44604 1 36550875 [A/G] NM_014466 TEKT2 EXON Missense_D90N exm44606 1 36551494 [A/G] NM_014466 TEKT2 EXON Missense_I114V exm44607 1 36551495 [T/C] NM_014466 TEKT2 EXON Missense_I114T exm44613 1 36551587 [A/G] NM_014466 TEKT2 EXON Missense_E145K exm44616 1 36552305 [A/C] NM_014466 TEKT2 EXON Nonsense_C163X exm44621 1 36552346 [A/G] NM_014466 TEKT2 EXON Missense_R177Q exm1799343 1 36552436 [A/G] NM_014466 TEKT2 EXON Missense_R207H exm44627 1 36552439 [T/C] NM_014466 TEKT2 EXON Missense_V208A exm44629 1 36552447 [A/G] NM_014466 TEKT2 EXON Missense_G211S exm1799344 1 36552448 [A/G] NM_014466 TEKT2 EXON Missense_G211D exm44632 1 36552585 [T/C] NM_014466 TEKT2 EXON Missense_A229V exm44640 1 36552858 [T/G] NM_014466 TEKT2 EXON Missense_K267N exm1799351 1 36552901 [A/C] NM_014466 TEKT2 EXON Missense_Q282K exm44644 1 36553092 [A/C] NM_014466 TEKT2 EXON Missense_D303A exm44648 1 36553330 [A/C] NM_014466 TEKT2 EXON Missense_A334E exm44649 1 36553338 [A/G] NM_014466 TEKT2 EXON Missense_G337S exm44653 1 36553359 [A/C] NM_014466 TEKT2 EXON Missense_Q344K exm44657 1 36553608 [T/C] NM_014466 TEKT2 EXON Missense_R372W exm44658 1 36553609 [A/G] NM_014466 TEKT2 EXON Missense_R372Q exm44662 1 36553672 [T/C] NM_014466 TEKT2 EXON Missense_T393I exm1799359 1 36553686 [A/G] NM_014466 TEKT2 EXON Missense_T398A exm44665 1 36553689 [A/G] NM_014466 TEKT2 EXON Missense_V399M exm1799360 1 36553752 [A/G] NM_014466 TEKT2 EXON Missense_S420G exm44691 1 36557307 [T/C] NM_017825 ADPRHL2 EXON Missense_R133C exm44698 1 36557413 [A/G] NM_017825 ADPRHL2 EXON Missense_Q168R exm44709 1 36557619 [A/G] NM_017825 ADPRHL2 EXON Missense_E209K exm44710 1 36557644 [A/G] NM_017825 ADPRHL2 EXON Missense_G217D exm44715 1 36558040 [A/G] NM_017825 ADPRHL2 EXON Missense_R240H exm44723 1 36558902 [T/C] NM_017825 ADPRHL2 EXON Missense_P336L exm44725 1 36558968 [T/G] NM_017825 ADPRHL2 EXON Missense_R358L exm44727 1 36558985 [T/G] NM_017825 ADPRHL2 EXON Missense_X364G exm44736 1 36563279 [T/C] NM_005202 COL8A2 EXON Missense_R668Q exm44746 1 36563467 [T/G] NM_005202 COL8A2 EXON Nonsense_Y605X exm44763 1 36563583 [T/C] NM_005202 COL8A2 EXON Missense_G567S exm44781 1 36563981 [T/C] NM_005202 COL8A2 EXON Missense_R434H exm44826 1 36565714 [T/C] NM_005202 COL8A2 EXON Missense_I44V exm44841 1 36565837 [T/C] NM_005202 COL8A2 EXON Missense_G3R exm2264821 1 36571920 [A/G] exm44848 1 36603427 [A/C] NR_073097,NM_001270896,NM_001270897,NM_001270895,NM_014408,NR_073098,NM_001270894 TRAPPC3,TRAPPC3,TRAPPC3,TRAPPC3,TRAPPC3,TRAPPC3,TRAPPC3 EXON Silent,Missense_L85F,Missense_L65F,Missense_L85F,Missense_L131F,Silent,Missense_L139F exm44868 1 36636671 [T/C] NM_018067 MAP7D1 EXON Missense_P49L exm44878 1 36636835 [T/C] NM_018067 MAP7D1 EXON Missense_R104W exm44880 1 36636854 [A/G] NM_018067 MAP7D1 EXON Missense_R110Q exm44883 1 36638089 [A/G] NM_018067 MAP7D1 EXON Missense_E162G exm44890 1 36638146 [A/G] NM_018067 MAP7D1 EXON Missense_R181Q exm44894 1 36638206 [A/G] NM_018067 MAP7D1 EXON Missense_R201Q exm44902 1 36639040 [T/G] NM_018067 MAP7D1 EXON Missense_A234S exm1799434 1 36640516 [A/G] NM_018067 MAP7D1 EXON Missense_V253M exm44909 1 36640565 [A/G] NM_018067 MAP7D1 EXON Missense_R269Q exm44923 1 36642316 [A/G] NM_018067 MAP7D1 EXON Missense_K418E exm44925 1 36642361 [T/C] NM_018067 MAP7D1 EXON Missense_R433W exm44941 1 36643685 [A/C] NM_018067 MAP7D1 EXON Missense_R531S exm44942 1 36643703 [A/G] NM_018067 MAP7D1 EXON Missense_K537E exm44967 1 36644619 [A/G] NM_018067 MAP7D1 EXON Missense_R708H exm44973 1 36645144 [A/G] NM_018067 MAP7D1 EXON Missense_N739S exm44977 1 36645291 [A/G] NM_018067 MAP7D1 EXON Missense_R752Q exm2233283 1 36645615 [T/C] NM_018067 MAP7D1 EXON Missense_A821V exm44995 1 36748237 [T/C] NM_005119 THRAP3 EXON Missense_R25C exm45028 1 36752742 [A/G] NM_005119 THRAP3 EXON Missense_H304R exm45037 1 36754769 [C/G] NM_005119 THRAP3 EXON Missense_L383F exm45038 1 36754784 [A/G] NM_005119 THRAP3 EXON Missense_M388I exm45043 1 36754979 [A/G] NM_005119 THRAP3 EXON Missense_M453I exm45054 1 36755361 [A/G] NM_005119 THRAP3 EXON Missense_A581T exm45057 1 36757052 [A/G] NM_005119 THRAP3 EXON Missense_R608H exm45060 1 36758211 [A/G] NM_005119 THRAP3 EXON Missense_G644E exm2265000 1 36764770 [A/G] NM_005119 THRAP3 Silent exm45110 1 36773761 [G/C] NM_001162530,NM_024676 SH3D21,SH3D21 EXON Missense_P197R,Missense_P86R exm45127 1 36785343 [T/C] NM_001162530,NM_024676 SH3D21,SH3D21 EXON Missense_A360V,Missense_A249V exm45145 1 36785787 [T/C] NM_001162530,NM_024676 SH3D21,SH3D21 EXON Missense_S508L,Missense_S397L exm45153 1 36785853 [A/C] NM_001162530,NM_024676 SH3D21,SH3D21 EXON Missense_A530D,Missense_A419D exm45169 1 36786144 [A/C] NM_001162530,NM_024676 SH3D21,SH3D21 EXON Missense_E627A,Missense_E516A exm45176 1 36786272 [T/C] NM_001162530,NM_024676 SH3D21,SH3D21 EXON Missense_L670F,Missense_L559F exm45180 1 36786303 [A/G] NM_001162530,NM_024676 SH3D21,SH3D21 EXON Missense_Y680C,Missense_Y569C exm45185 1 36786521 [A/G] NM_001162530,NM_024676 SH3D21,SH3D21 EXON Missense_K714R,Missense_K603R exm45187 1 36786568 [T/C] NM_001162530,NM_024676 SH3D21,SH3D21 EXON Missense_R730W,Missense_R619W exm45199 1 36788023 [T/C] NM_018166 EVA1B EXON Missense_R124Q exm45200 1 36788078 [A/C] NM_018166 EVA1B EXON Missense_G106W exm2251523 1 36807416 [A/G] NM_032017 STK40 EXON Synonymous_D416D exm45228 1 36807481 [T/C] NM_032017 STK40 EXON Missense_A395T exm45253 1 36809737 [T/C] NM_032017 STK40 EXON Missense_E290K exm45260 1 36819966 [T/C] NM_032017 STK40 EXON Missense_R208G exm45283 1 36823881 [T/G] NM_032017 STK40 EXON Missense_H101N exm45295 1 36826827 [A/G] NM_032017 STK40 EXON Missense_I36T exm45302 1 36826905 [A/G] NM_032017 STK40 EXON Missense_A10V exm45311 1 36859483 [T/C] NM_032881 LSM10 EXON Missense_H83R exm1799621 1 36859487 [T/C] NM_032881 LSM10 EXON Missense_V82I exm2251525 1 36859629 [A/C] NM_032881 LSM10 EXON Synonymous_R34R exm45337 1 36886095 [T/G] NM_145047 OSCP1 EXON Missense_T314N exm45339 1 36886117 [T/C] NM_145047 OSCP1 EXON Missense_G307R exm45348 1 36887813 [A/C] NM_145047 OSCP1 EXON Missense_V253L exm45352 1 36888462 [A/G] NM_145047 OSCP1 EXON Missense_I219T exm45356 1 36889025 [A/G] NM_145047 OSCP1 EXON Missense_R187C exm45359 1 36893930 [T/C] NM_145047,NM_206837 OSCP1,OSCP1 EXON Silent,Nonsense_W221X exm45360 1 36893968 [A/G] NM_145047,NM_206837 OSCP1,OSCP1 EXON Silent,Missense_Y209H exm45368 1 36897459 [T/C] NM_145047,NM_206837 OSCP1,OSCP1 EXON Missense_E154K,Missense_E154K exm45373 1 36898067 [T/C] NM_145047,NM_206837 OSCP1,OSCP1 EXON Missense_T131A,Missense_T131A exm45380 1 36904406 [T/C] NM_145047,NM_206837 OSCP1,OSCP1 EXON Missense_R73H,Missense_R73H exm45382 1 36904409 [T/C] NM_145047,NM_206837 OSCP1,OSCP1 EXON Missense_E72G,Missense_E72G exm45392 1 36915872 [T/G] NM_145047,NM_206837 OSCP1,OSCP1 EXON Missense_D33E,Missense_D33E exm2233289 1 36921853 [A/C] NM_031280 MRPS15 EXON Missense_F191V exm45411 1 36921868 [C/G] NM_031280 MRPS15 EXON Missense_G186R exm45418 1 36921912 [A/C] NM_031280 MRPS15 EXON Missense_R171L exm1799661 1 36921980 [T/C] NM_031280 MRPS15 Silent exm45429 1 36926868 [C/G] NM_031280 MRPS15 EXON Missense_N99K exm45438 1 36927735 [A/G] NM_031280 MRPS15 EXON Missense_P69S exm45461 1 36931973 [T/C] NM_156039,NM_000760,NM_172313 CSF3R,CSF3R,CSF3R EXON Synonymous_A859A,Synonymous_A832A,Silent exm2251528 1 36931973 [T/C] NM_156039,NM_000760,NM_172313 CSF3R,CSF3R,CSF3R EXON Synonymous_A859A,Synonymous_A832A,Silent exm45466 1 36932047 [T/C] NM_156039,NM_000760,NM_172313 CSF3R,CSF3R,CSF3R EXON Missense_E835K,Missense_E808K,Silent exm45467 1 36932062 [A/G] NM_156039,NM_000760,NM_172313 CSF3R,CSF3R,CSF3R EXON Missense_P830S,Missense_P803S,Silent exm1799683 1 36932272 [T/G] NM_156039,NM_000760,NM_172313 CSF3R,CSF3R,CSF3R EXON Missense_P760T,Missense_P733T,Missense_P733T exm45481 1 36932463 [A/G] NM_156039,NM_000760,NM_172313 CSF3R,CSF3R,CSF3R EXON Missense_M696T,Silent,Silent exm45484 1 36932503 [T/C] NM_156039,NM_000760,NM_172313 CSF3R,CSF3R,CSF3R EXON Missense_G683R,Silent,Silent exm45489 1 36933198 [A/G] NM_156039,NM_000760,NM_172313 CSF3R,CSF3R,CSF3R EXON Missense_T640I,Missense_T640I,Missense_T640I exm45494 1 36933431 [A/G] NM_156039,NM_000760,NM_172313 CSF3R,CSF3R,CSF3R EXON Missense_L619S,Missense_L619S,Missense_L619S exm45495 1 36933473 [T/G] NM_156039,NM_000760,NM_172313 CSF3R,CSF3R,CSF3R EXON Missense_Q605P,Missense_Q605P,Missense_Q605P exm45500 1 36933539 [T/C] NM_156039,NM_000760,NM_172313 CSF3R,CSF3R,CSF3R EXON Missense_R583H,Missense_R583H,Missense_R583H exm45504 1 36933715 [A/G] NM_156039,NM_000760,NM_172313 CSF3R,CSF3R,CSF3R EXON Missense_Y562H,Missense_Y562H,Missense_Y562H exm45507 1 36933759 [T/C] NM_156039,NM_000760,NM_172313 CSF3R,CSF3R,CSF3R EXON Nonsense_W547X,Nonsense_W547X,Nonsense_W547X exm45512 1 36934805 [C/G] NM_156039,NM_000760,NM_172313 CSF3R,CSF3R,CSF3R EXON Missense_D510H,Missense_D510H,Missense_D510H exm45526 1 36935360 [T/G] NM_156039,NM_000760,NM_172313 CSF3R,CSF3R,CSF3R EXON Missense_P456H,Missense_P456H,Missense_P456H exm45529 1 36935408 [T/C] NM_156039,NM_000760,NM_172313 CSF3R,CSF3R,CSF3R EXON Missense_R440Q,Missense_R440Q,Missense_R440Q exm45537 1 36937106 [T/C] NM_156039,NM_000760,NM_172313 CSF3R,CSF3R,CSF3R EXON Missense_E405K,Missense_E405K,Missense_E405K exm45542 1 36937701 [T/C] NM_156039,NM_000760,NM_172313 CSF3R,CSF3R,CSF3R EXON Missense_Q346R,Missense_Q346R,Missense_Q346R exm45547 1 36937878 [T/C] NM_156039,NM_000760,NM_172313 CSF3R,CSF3R,CSF3R EXON Missense_D320N,Missense_D320N,Missense_D320N exm45556 1 36938257 [A/G] NM_156039,NM_000760,NM_172313 CSF3R,CSF3R,CSF3R EXON Missense_M235T,Missense_M235T,Missense_M235T exm45559 1 36938269 [A/G] NM_156039,NM_000760,NM_172313 CSF3R,CSF3R,CSF3R EXON Missense_M231T,Missense_M231T,Missense_M231T exm45569 1 36939403 [G/C] NM_156039,NM_000760,NM_172313 CSF3R,CSF3R,CSF3R EXON Missense_E149D,Missense_E149D,Missense_E149D exm45576 1 36940995 [A/G] NM_156039,NM_000760,NM_172313 CSF3R,CSF3R,CSF3R EXON Missense_V115A,Missense_V115A,Missense_V115A exm45598 1 36945037 [T/C] NM_156039,NM_000760,NM_172313 CSF3R,CSF3R,CSF3R EXON Missense_G21R,Missense_G21R,Missense_G21R exm2265001 1 37254301 [A/G] exm45620 1 37271783 [T/C] NM_000831 GRIK3 EXON Missense_V746I exm45636 1 37285454 [A/C] NM_000831 GRIK3 EXON Missense_F586V exm45644 1 37307336 [T/C] NM_000831 GRIK3 Silent exm45662 1 37315970 [T/C] NM_000831 GRIK3 EXON Missense_R423Q exm45664 1 37316004 [T/C] NM_000831 GRIK3 EXON Missense_D412N exm45668 1 37319265 [A/G] NM_000831 GRIK3 EXON Missense_T388M exm45689 1 37325587 [T/C] NM_000831 GRIK3 EXON Missense_R273H exm45691 1 37325609 [T/C] NM_000831 GRIK3 EXON Missense_A266T exm45708 1 37346259 [T/G] NM_000831 GRIK3 EXON Missense_T176P exm45736 1 37499626 [T/G] NM_000831 GRIK3 EXON Missense_D28E exm-rs849961 1 37577214 [A/G] exm2264822 1 37581516 [A/G] exm45755 1 37941135 [C/G] NM_025079 ZC3H12A EXON Missense_A13G exm45757 1 37941192 [T/C] NM_025079 ZC3H12A EXON Missense_P32L exm45759 1 37941196 [T/G] NM_025079 ZC3H12A EXON Missense_R33S exm45776 1 37941396 [T/C] NM_025079 ZC3H12A EXON Missense_P100L exm45778 1 37941464 [T/C] NM_025079 ZC3H12A EXON Missense_P123S exm1800611 1 37941515 [A/G] NM_025079 ZC3H12A EXON Missense_I140V exm45789 1 37945920 [A/G] NM_025079 ZC3H12A EXON Missense_R158Q exm45791 1 37945956 [A/G] NM_025079 ZC3H12A EXON Missense_R170Q exm45796 1 37947235 [A/T] NM_025079 ZC3H12A EXON Missense_K206M exm45802 1 37947336 [A/G] NM_025079 ZC3H12A EXON Missense_V240M exm45818 1 37948140 [T/C] NM_025079 ZC3H12A EXON Synonymous_Y308Y exm45827 1 37948449 [A/C] NM_025079 ZC3H12A EXON Missense_P346H exm45852 1 37948886 [A/G] NM_025079 ZC3H12A EXON Missense_G492S exm45866 1 37949180 [T/C] NM_025079 ZC3H12A EXON Missense_L590F exm-rs9253 1 37958813 [G/C] NM_001270875,NR_073092,NM_022756,NM_001270876,NR_073091,NR_073090 MEAF6,MEAF6,MEAF6,MEAF6,MEAF6,MEAF6 EXON Silent,Silent,Silent,Silent,Silent,Silent exm45881 1 37967549 [T/C] NM_001270875,NR_073092,NM_022756,NM_001270876,NR_073091,NR_073090 MEAF6,MEAF6,MEAF6,MEAF6,MEAF6,MEAF6 EXON Missense_N130S,Silent,Missense_N130S,Missense_N130S,Silent,Silent exm45902 1 38003384 [T/C] NM_024700 SNIP1 EXON Missense_D386N exm45905 1 38003422 [A/G] NM_024700 SNIP1 EXON Missense_S373L exm45917 1 38006105 [A/C] NM_024700 SNIP1 EXON Missense_N193K exm1800715 1 38006116 [A/G] NM_024700 SNIP1 EXON Missense_R190C exm45921 1 38006163 [A/G] NM_024700 SNIP1 EXON Missense_A174V exm45925 1 38006254 [A/G] NM_024700 SNIP1 EXON Missense_R144W exm2233306 1 38006259 [T/C] NM_024700 SNIP1 EXON Missense_R142K exm45931 1 38006337 [T/C] NM_024700 SNIP1 EXON Missense_R116Q exm45932 1 38006338 [A/G] NM_024700 SNIP1 EXON Missense_R116W exm45934 1 38006352 [T/C] NM_024700 SNIP1 EXON Missense_R111H exm45935 1 38006353 [A/G] NM_024700 SNIP1 EXON Missense_R111C exm45954 1 38019800 [G/C] NM_024700 SNIP1 EXON Missense_G11R exm45968 1 38023316 [T/C] NM_003462 DNALI1 EXON Missense_A87V exm45970 1 38023338 [A/G] NM_003462 DNALI1 EXON Missense_I94M exm45974 1 38024964 [T/G] NM_003462 DNALI1 EXON Missense_Q110H exm45986 1 38027235 [A/G] NM_003462 DNALI1 EXON Missense_M181V exm45992 1 38027286 [A/G] NM_003462 DNALI1 EXON Missense_M198V exm45993 1 38027317 [A/T] NM_003462 DNALI1 EXON Missense_K208M exm46001 1 38027737 [A/C] NM_003462 DNALI1 EXON Missense_K233T exm46007 1 38027796 [A/C] NM_003462 DNALI1 EXON Missense_K253Q exm46008 1 38027815 [A/G] NM_003462 DNALI1 EXON Missense_Q259R exm46027 1 38032580 [A/G] NM_013285 GNL2 EXON Missense_P691L exm46031 1 38032607 [T/C] NM_013285 GNL2 EXON Missense_R682Q exm46033 1 38033291 [T/C] NM_013285 GNL2 EXON Missense_A676T exm46034 1 38033308 [A/G] NM_013285 GNL2 EXON Missense_S670L exm46037 1 38033930 [A/G] NM_013285 GNL2 EXON Missense_F633L exm46053 1 38034737 [T/C] NM_013285 GNL2 EXON Missense_R528Q exm46056 1 38034836 [A/G] NM_013285 GNL2 EXON Missense_T495I exm2251558 1 38038388 [A/G] NM_013285 GNL2 Silent exm46062 1 38039997 [A/G] NM_013285 GNL2 EXON Missense_R455W exm46066 1 38040285 [T/C] NM_013285 GNL2 EXON Missense_R428Q exm46068 1 38040333 [A/G] NM_013285 GNL2 EXON Missense_I412T exm46070 1 38040392 [A/G] NM_013285 GNL2 EXON Synonymous_D392D exm2251559 1 38040392 [A/G] NM_013285 GNL2 EXON Synonymous_D392D exm46076 1 38042043 [A/C] NM_013285 GNL2 EXON Missense_A342S exm46086 1 38048473 [G/C] NM_013285 GNL2 EXON Missense_S234C exm46087 1 38048504 [T/G] NM_013285 GNL2 EXON Missense_L224I exm46093 1 38049499 [T/C] NM_013285 GNL2 EXON Missense_Q202R exm46094 1 38049504 [G/C] NM_013285 GNL2 EXON Missense_K200N exm46099 1 38052928 [T/C] NM_013285 GNL2 EXON Missense_E185K exm46112 1 38058381 [A/G] NM_013285 GNL2 EXON Missense_P59L exm46116 1 38059364 [T/C] NM_013285 GNL2 EXON Missense_R50G exm46123 1 38059416 [T/C] NM_013285 GNL2 EXON Missense_M32I exm46136 1 38078561 [A/G] NM_001038633,NM_001242910,NM_001242909,NM_001242908 RSPO1,RSPO1,RSPO1,RSPO1 EXON Missense_R220W,Missense_R157W,Missense_R193W,Missense_R220W exm46147 1 38079393 [T/C] NM_001038633,NM_001242910,NM_001242909,NM_001242908 RSPO1,RSPO1,RSPO1,RSPO1 EXON Missense_R203K,Silent,Missense_R176K,Missense_R203K exm1800826 1 38079537 [A/G] NM_001038633,NM_001242910,NM_001242909,NM_001242908 RSPO1,RSPO1,RSPO1,RSPO1 EXON Missense_P155L,Silent,Missense_P128L,Missense_P155L exm46153 1 38079563 [T/C] NM_001038633,NM_001242910,NM_001242909,NM_001242908 RSPO1,RSPO1,RSPO1,RSPO1 EXON Synonymous_A146A,Silent,Synonymous_A119A,Synonymous_A146A exm46163 1 38082222 [T/C] NM_001038633,NM_001242910,NM_001242909,NM_001242908 RSPO1,RSPO1,RSPO1,RSPO1 EXON Missense_V74I,Missense_V74I,Missense_V47I,Missense_V74I exm46165 1 38082327 [T/C] NM_001038633,NM_001242910,NM_001242909,NM_001242908 RSPO1,RSPO1,RSPO1,RSPO1 EXON Missense_A39T,Missense_A39T,Missense_A12T,Missense_A39T exm46170 1 38095274 [A/G] NM_001038633,NM_001242910,NM_001242909,NM_001242908 RSPO1,RSPO1,RSPO1,RSPO1 EXON Synonymous_S20S,Synonymous_S20S,Silent,Synonymous_S20S exm2265002 1 38135687 [A/G] exm46182 1 38148833 [A/C] NM_017850 C1orf109 Silent exm46184 1 38149026 [T/C] NM_017850 C1orf109 EXON Missense_R180Q exm46188 1 38152078 [A/G] NM_017850 C1orf109 EXON Nonsense_R108X exm46198 1 38155366 [T/G] NM_017850 C1orf109 EXON Missense_L63I exm46200 1 38155456 [A/G] NM_017850 C1orf109 EXON Missense_R33W exm46202 1 38155488 [T/C] NM_017850 C1orf109 EXON Missense_E22G exm46212 1 38158648 [A/G] NM_018101,NM_001256875 CDCA8,CDCA8 EXON Missense_I56V,Missense_I56V exm46216 1 38166111 [A/G] NM_018101,NM_001256875 CDCA8,CDCA8 EXON Missense_R114Q,Missense_R114Q exm2273637 1 38166170 [T/C] NM_018101,NM_001256875 CDCA8,CDCA8 EXON Missense_R134C,Missense_R134C exm46225 1 38168965 [T/G] NM_018101,NM_001256875 CDCA8,CDCA8 EXON Missense_L177W,Missense_L177W exm46234 1 38171207 [T/A] NM_018101,NM_001256875 CDCA8,CDCA8 EXON Missense_I227F,Missense_I227F exm46235 1 38171231 [A/G] NM_018101,NM_001256875 CDCA8,CDCA8 EXON Missense_G235S,Missense_G235S exm46238 1 38172736 [T/C] NM_018101,NM_001256875 CDCA8,CDCA8 EXON Synonymous_S266S,Synonymous_S266S exm46252 1 38184055 [T/C] NM_001099439 EPHA10 EXON Missense_V1006M exm46255 1 38184106 [T/C] NM_001099439 EPHA10 EXON Missense_S989G exm46256 1 38184115 [T/C] NM_001099439 EPHA10 EXON Missense_A986T exm1800866 1 38184120 [A/C] NM_001099439 EPHA10 EXON Missense_R984L exm46260 1 38184349 [A/C] NM_001099439 EPHA10 EXON Missense_A966S exm46263 1 38184382 [T/C] NM_001099439 EPHA10 EXON Missense_A955T exm46267 1 38184439 [T/C] NM_001099439 EPHA10 EXON Missense_G936S exm46279 1 38185116 [A/G] NM_001099439 EPHA10 EXON Missense_P909L exm2233313 1 38185159 [C/G] NM_001099439 EPHA10 EXON Missense_Q895E exm46291 1 38185629 [A/C] NM_001099439 EPHA10 EXON Missense_E838D exm46296 1 38185714 [A/G] NM_001099439 EPHA10 EXON Missense_A810V exm46298 1 38185723 [T/C] NM_001099439 EPHA10 EXON Missense_R807Q exm46315 1 38186189 [T/C] NM_001099439 EPHA10 EXON Missense_G749E exm46320 1 38186226 [A/G] NM_001099439 EPHA10 EXON Missense_R737W exm46322 1 38186487 [T/C] NM_001099439 EPHA10 EXON Missense_M726V exm46339 1 38188736 [A/G] NM_001099439 EPHA10 EXON Missense_T646M exm46341 1 38188740 [T/C] NM_001099439 EPHA10 EXON Missense_V645I exm2233316 1 38188748 [A/G] NM_001099439 EPHA10 EXON Missense_A642V exm46346 1 38188787 [A/G] NM_001099439 EPHA10 EXON Missense_L629P exm46347 1 38188820 [T/C] NM_001099439 EPHA10 EXON Missense_R618H exm46354 1 38189044 [T/C] NM_001099439 EPHA10 EXON Synonymous_R591R exm1800901 1 38192814 [T/C] NM_001099439 EPHA10 EXON Missense_V578I exm46358 1 38192825 [A/G] NM_001099439 EPHA10 EXON Missense_S574L exm46359 1 38192838 [T/C] NM_001099439 EPHA10 EXON Missense_V570I exm46366 1 38197152 [T/C] NM_001099439 EPHA10 EXON Missense_A532T exm46368 1 38197170 [T/C] NM_001099439 EPHA10 EXON Missense_V526I exm2273638 1 38197176 [A/G] NM_001099439 EPHA10 EXON Missense_R524C exm46372 1 38197214 [A/G] NM_001099439 EPHA10 EXON Missense_A511V exm46376 1 38197247 [T/C] NM_001099439 EPHA10 EXON Missense_S500N exm46395 1 38227086 [A/T] NM_001099439,NM_173641 EPHA10,EPHA10 EXON Missense_F281I,Missense_F281I exm46400 1 38227136 [A/C] NM_001099439,NM_173641 EPHA10,EPHA10 EXON Missense_V264G,Missense_V264G exm46408 1 38227323 [T/C] NM_001099439,NM_173641 EPHA10,EPHA10 EXON Missense_V202I,Missense_V202I exm46421 1 38227500 [A/G] NM_001099439,NM_173641 EPHA10,EPHA10 EXON Missense_R143C,Missense_R143C exm46426 1 38227620 [C/G] NM_001099439,NM_173641 EPHA10,EPHA10 EXON Missense_V103L,Missense_V103L exm46431 1 38227722 [A/G] NM_001099439,NM_173641 EPHA10,EPHA10 EXON Missense_R69C,Missense_R69C exm46437 1 38230699 [C/G] NM_001099439,NM_173641 EPHA10,EPHA10 EXON Missense_L14V,Missense_L14V exm-rs12117544 1 38247153 [A/T] exm46452 1 38262417 [T/G] NM_001031740,NM_001113482,NM_152496 MANEAL,MANEAL,MANEAL EXON Missense_V221G,Missense_V221G,Silent exm46458 1 38262492 [T/C] NM_001031740,NM_001113482,NM_152496 MANEAL,MANEAL,MANEAL EXON Missense_T246I,Missense_T246M,Silent exm1800928 1 38265258 [T/C] NM_001031740,NM_001113482,NM_152496 MANEAL,MANEAL,MANEAL EXON Silent,Missense_F253L,Missense_F31L exm46465 1 38265363 [A/G] NM_001031740,NM_001113482,NM_152496 MANEAL,MANEAL,MANEAL EXON Silent,Missense_G288R,Missense_G66R exm46476 1 38265622 [A/G] NM_001031740,NM_001113482,NM_152496 MANEAL,MANEAL,MANEAL EXON Silent,Missense_N374S,Missense_N152S exm46479 1 38265670 [T/C] NM_001031740,NM_001113482,NM_152496 MANEAL,MANEAL,MANEAL EXON Silent,Missense_A390V,Missense_A168V exm46481 1 38265709 [T/C] NM_001031740,NM_001113482,NM_152496 MANEAL,MANEAL,MANEAL EXON Silent,Missense_S403F,Missense_S181F exm46492 1 38265849 [A/G] NM_001031740,NM_001113482,NM_152496 MANEAL,MANEAL,MANEAL EXON Silent,Missense_K450E,Missense_K228E exm46499 1 38270002 [T/C] NM_024640 YRDC EXON Missense_G247R exm46501 1 38270005 [A/G] NM_024640 YRDC EXON Missense_P246S exm2233321 1 38272820 [T/C] NM_024640 YRDC EXON Missense_M153V exm46539 1 38274696 [G/C] NM_001142726,NM_198446 C1orf122,C1orf122 EXON Missense_A32G,Missense_A95G exm46542 1 38274713 [A/G] NM_001142726,NM_198446 C1orf122,C1orf122 EXON Missense_K38E,Missense_K101E exm46543 1 38274722 [A/G] NM_001142726,NM_198446 C1orf122,C1orf122 EXON Missense_G41S,Missense_G104S exm46553 1 38280866 [A/G] NM_005955 MTF1 EXON Missense_I735T exm46556 1 38280953 [T/C] NM_005955 MTF1 EXON Missense_D706G exm46562 1 38281046 [A/G] NM_005955 MTF1 EXON Missense_A675V exm46567 1 38287837 [T/C] NM_005955 MTF1 EXON Missense_I575V exm46583 1 38288227 [A/G] NM_005955 MTF1 EXON Missense_P445S exm46586 1 38288242 [A/G] NM_005955 MTF1 EXON Missense_P440S exm46591 1 38289383 [T/C] NM_005955 MTF1 EXON Synonymous_T390T exm46593 1 38289400 [T/C] NM_005955 MTF1 EXON Missense_E385K exm46597 1 38289462 [A/G] NM_005955 MTF1 EXON Missense_T364I exm46626 1 38323142 [T/G] NM_005955 MTF1 EXON Missense_D63E exm46640 1 38329999 [C/G] NM_005540 INPP5B EXON Missense_D871H exm46658 1 38338795 [A/G] NM_005540 INPP5B EXON Missense_M665T exm46684 1 38348517 [T/C] NM_005540 INPP5B EXON Missense_E465K exm46689 1 38351367 [A/C] NM_005540 INPP5B EXON Missense_R421L exm46695 1 38352664 [A/G] NM_005540 INPP5B EXON Nonsense_R343X exm46702 1 38354008 [A/G] NM_005540 INPP5B EXON Missense_A269V exm46708 1 38355335 [A/C] NM_005540 INPP5B EXON Missense_D231Y exm1801019 1 38357078 [A/G] NM_005540 INPP5B EXON Missense_M194T exm46712 1 38357085 [T/C] NM_005540 INPP5B EXON Missense_V192M exm46735 1 38409317 [T/A] NM_005540 INPP5B EXON Missense_I92N exm46737 1 38409489 [A/G] NM_005540 INPP5B EXON Missense_R77W exm46742 1 38409550 [T/C] NM_005540 INPP5B EXON Synonymous_T56T exm2251567 1 38409550 [T/C] NM_005540 INPP5B EXON Synonymous_T56T exm46746 1 38411444 [T/C] NM_005540 INPP5B EXON Missense_G46S exm46802 1 38450438 [A/G] NM_006802 SF3A3 EXON Missense_M106T exm46807 1 38453330 [T/C] NM_006802 SF3A3 EXON Missense_N73S exm46822 1 38463148 [C/G] NM_001243878,NM_004468 FHL3,FHL3 EXON Missense_L150V,Missense_L258V exm46824 1 38463226 [T/C] NM_001243878,NM_004468 FHL3,FHL3 EXON Missense_G124S,Missense_G232S exm46826 1 38463367 [T/C] NM_001243878,NM_004468 FHL3,FHL3 EXON Missense_R118H,Missense_R226H exm46829 1 38463476 [T/C] NM_001243878,NM_004468 FHL3,FHL3 EXON Missense_G82R,Missense_G190R exm46830 1 38463477 [A/G] NM_001243878,NM_004468 FHL3,FHL3 EXON Synonymous_T81T,Synonymous_T189T exm46833 1 38463514 [T/C] NM_001243878,NM_004468 FHL3,FHL3 EXON Missense_R69H,Missense_R177H exm46837 1 38463541 [A/G] NM_001243878,NM_004468 FHL3,FHL3 EXON Missense_T60M,Missense_T168M exm1801095 1 38463740 [A/C] NM_001243878,NM_004468 FHL3,FHL3 EXON Missense_C24W,Missense_C132W exm46850 1 38464670 [T/C] NM_001243878,NM_004468 FHL3,FHL3 EXON Silent,Missense_A103T exm46853 1 38464678 [T/C] NM_001243878,NM_004468 FHL3,FHL3 EXON Silent,Missense_Q100R exm46854 1 38464690 [A/G] NM_001243878,NM_004468 FHL3,FHL3 EXON Silent,Missense_A96V exm46858 1 38464778 [A/G] NM_001243878,NM_004468 FHL3,FHL3 EXON Silent,Missense_R67C exm46871 1 38478503 [A/C] NM_016037 UTP11L EXON Missense_K10T exm46873 1 38482080 [A/G] NM_016037 UTP11L EXON Missense_K38R exm46876 1 38483428 [T/C] NM_016037 UTP11L EXON Missense_R72W exm46883 1 38484795 [A/G] NM_016037 UTP11L EXON Missense_H136R exm46886 1 38484981 [A/G] NM_016037 UTP11L EXON Missense_V165I exm46889 1 38488372 [A/G] NM_016037 UTP11L EXON Missense_R190Q exm46900 1 38489251 [T/C] NM_016037 UTP11L EXON Missense_T238M exm46901 1 38489269 [T/C] NM_016037 UTP11L EXON Missense_I244T exm-rs12131057 1 38624129 [A/G] exm2251575 1 38734768 [A/G] exm2260265 1 38875991 [T/C] exm2263821 1 39221925 [A/C] exm46939 1 39305305 [G/C] NM_001271851,NM_022157 RRAGC,RRAGC EXON Missense_H340D,Missense_H374D exm46948 1 39317396 [T/C] NM_001271851,NM_022157 RRAGC,RRAGC EXON Missense_V230I,Missense_V264I exm46969 1 39332586 [A/G] NR_037635,NR_037637,NR_037633,NR_037634,NM_012333,NR_037636,NR_037632 GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,MYCBP,GJA9-MYCBP,MYCBP EXON Silent,Silent,Silent,Silent,Missense_A78V,Silent,Silent exm46983 1 39340282 [T/C] NR_037635,NR_037637,NR_037633,NR_037634,NR_037636,NM_030772 GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,GJA9 EXON Silent,Silent,Silent,Silent,Silent,Missense_V497I exm46984 1 39340381 [A/G] NR_037635,NR_037637,NR_037633,NR_037634,NR_037636,NM_030772 GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,GJA9 EXON Silent,Silent,Silent,Silent,Silent,Missense_S464P exm46986 1 39340419 [A/G] NR_037635,NR_037637,NR_037633,NR_037634,NR_037636,NM_030772 GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,GJA9 EXON Silent,Silent,Silent,Silent,Silent,Missense_T451I exm46987 1 39340423 [T/C] NR_037635,NR_037637,NR_037633,NR_037634,NR_037636,NM_030772 GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,GJA9 EXON Silent,Silent,Silent,Silent,Silent,Missense_G450S exm46993 1 39340507 [A/G] NR_037635,NR_037637,NR_037633,NR_037634,NR_037636,NM_030772 GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,GJA9 EXON Silent,Silent,Silent,Silent,Silent,Missense_L422F exm46994 1 39340558 [A/G] NR_037635,NR_037637,NR_037633,NR_037634,NR_037636,NM_030772 GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,GJA9 EXON Silent,Silent,Silent,Silent,Silent,Missense_P405S exm47002 1 39340761 [T/C] NR_037635,NR_037637,NR_037633,NR_037634,NR_037636,NM_030772 GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,GJA9 EXON Silent,Silent,Silent,Silent,Silent,Missense_S337N exm47005 1 39340812 [G/C] NR_037635,NR_037637,NR_037633,NR_037634,NR_037636,NM_030772 GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,GJA9 EXON Silent,Silent,Silent,Silent,Silent,Missense_C320S exm47008 1 39340839 [T/C] NR_037635,NR_037637,NR_037633,NR_037634,NR_037636,NM_030772 GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,GJA9 EXON Silent,Silent,Silent,Silent,Silent,Missense_D311G exm47016 1 39341193 [A/G] NR_037635,NR_037637,NR_037633,NR_037634,NR_037636,NM_030772 GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,GJA9 EXON Silent,Silent,Silent,Silent,Silent,Missense_P193L exm47038 1 39341749 [T/C] NR_037635,NR_037637,NR_037633,NR_037634,NR_037636,NM_030772 GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,GJA9 EXON Silent,Silent,Silent,Silent,Silent,Missense_G8R exm47042 1 39352271 [T/G] NM_017821 RHBDL2 EXON Missense_L273M exm47048 1 39353636 [A/G] NM_017821 RHBDL2 EXON Missense_P244L exm47054 1 39361681 [A/C] NM_017821 RHBDL2 EXON Missense_V190G exm47064 1 39384638 [T/C] NM_017821 RHBDL2 Silent exm47068 1 39384709 [T/C] NM_017821 RHBDL2 EXON Missense_R59Q exm47071 1 39384766 [A/G] NM_017821 RHBDL2 EXON Missense_A40V exm47075 1 39384826 [A/G] NM_017821 RHBDL2 EXON Missense_M20T exm47078 1 39384860 [A/T] NM_017821 RHBDL2 EXON Missense_M9L exm47090 1 39463950 [T/C] NM_024595,NM_001136275 AKIRIN1,AKIRIN1 EXON Missense_H110Y,Missense_H110Y exm47094 1 39466734 [T/A] NM_024595,NM_001136275 AKIRIN1,AKIRIN1 EXON Missense_K151I,Silent exm47115 1 39494611 [T/C] NM_004552,NM_001184979 NDUFS5,NDUFS5 EXON Missense_T72M,Missense_T72M exm47137 1 39715702 [A/G] NM_012090 MACF1 EXON Missense_N100S exm1801712 1 39751423 [A/G] NM_012090 MACF1 EXON Missense_A506T exm47173 1 39757595 [A/G] NM_012090 MACF1 EXON Missense_R605Q exm47181 1 39758439 [T/G] NM_012090 MACF1 EXON Missense_G644V exm47195 1 39763365 [T/G] NM_012090 MACF1 EXON Missense_C815F exm47214 1 39775303 [A/G] NM_012090 MACF1 EXON Missense_S956G exm1801747 1 39776557 [A/G] NM_012090 MACF1 EXON Missense_R1057Q exm47238 1 39781258 [T/A] NM_012090 MACF1 EXON Missense_H1120L exm47241 1 39781321 [A/G] NM_012090 MACF1 EXON Missense_K1141R exm1801750 1 39781350 [A/G] NM_012090 MACF1 EXON Missense_V1151I exm47244 1 39782063 [A/G] NM_012090 MACF1 EXON Synonymous_K1155K exm47252 1 39783013 [T/G] NM_012090 MACF1 EXON Missense_R1244L exm47253 1 39783025 [A/T] NM_012090 MACF1 EXON Missense_K1248I exm2233329 1 39784125 [T/C] NM_012090 MACF1 EXON Synonymous_R1266R exm47264 1 39785384 [G/C] NM_012090 MACF1 EXON Missense_Q1337E exm47268 1 39788295 [A/C] NM_012090 MACF1 EXON Missense_L1354M exm47276 1 39788664 [A/G] NM_012090 MACF1 EXON Missense_R1412H exm47277 1 39789890 [T/A] NM_012090 MACF1 EXON Missense_E1426V exm47281 1 39790337 [T/C] NM_012090 MACF1 EXON Missense_T1475I exm1801771 1 39792931 [A/G] NM_012090 MACF1 EXON Missense_N1512S exm47295 1 39797055 [A/G] NM_012090 MACF1 Silent exm47299 1 39797106 [A/C] NM_012090 MACF1 Silent exm47306 1 39797244 [A/C] NM_012090 MACF1 Silent exm47315 1 39797460 [T/G] NM_012090 MACF1 Silent exm1801773 1 39797491 [A/G] NM_012090 MACF1 Silent exm47320 1 39797544 [A/G] NM_012090 MACF1 Silent exm1801774 1 39797583 [A/G] NM_012090 MACF1 Silent exm47329 1 39797749 [A/G] NM_012090 MACF1 Silent exm47341 1 39798016 [T/C] NM_012090 MACF1 Silent exm1801776 1 39798037 [T/G] NM_012090 MACF1 Silent exm2251605 1 39798101 [A/G] NM_012090 MACF1 Silent exm47345 1 39798120 [A/G] NM_012090 MACF1 Silent exm47354 1 39798433 [T/C] NM_012090 MACF1 Silent exm47358 1 39798519 [C/G] NM_012090 MACF1 Silent exm47359 1 39798525 [A/C] NM_012090 MACF1 Silent exm47363 1 39798682 [T/G] NM_012090 MACF1 Silent exm47366 1 39798745 [G/C] NM_012090 MACF1 Silent exm47373 1 39798831 [T/C] NM_012090 MACF1 Silent exm47374 1 39798843 [T/C] NM_012090 MACF1 Silent exm47376 1 39798946 [T/C] NM_012090 MACF1 Silent exm47379 1 39798978 [T/C] NM_012090 MACF1 Silent exm47386 1 39799041 [A/G] NM_012090 MACF1 Silent exm47389 1 39799186 [A/G] NM_012090 MACF1 Silent exm2273639 1 39799263 [T/C] NM_012090 MACF1 Silent exm47392 1 39799293 [A/G] NM_012090 MACF1 Silent exm47406 1 39799629 [A/G] NM_012090 MACF1 Silent exm47409 1 39799687 [G/C] NM_012090 MACF1 Silent exm47418 1 39799891 [T/A] NM_012090 MACF1 Silent exm47419 1 39799912 [T/C] NM_012090 MACF1 Silent exm47434 1 39800299 [T/C] NM_012090 MACF1 Silent exm47442 1 39800541 [A/G] NM_012090 MACF1 Silent exm47443 1 39800558 [A/C] NM_012090 MACF1 Silent exm47449 1 39800699 [T/A] NM_012090 MACF1 Silent exm47450 1 39800728 [A/G] NM_012090 MACF1 Silent exm47455 1 39801081 [A/G] NM_012090 MACF1 Silent exm2233334 1 39801085 [T/C] NM_012090 MACF1 Silent exm47460 1 39801435 [T/G] NM_012090 MACF1 Silent exm47461 1 39801469 [A/G] NM_012090 MACF1 Silent exm47463 1 39801540 [A/G] NM_012090 MACF1 Silent exm47465 1 39801570 [A/T] NM_012090 MACF1 Silent exm47467 1 39801681 [A/G] NM_012090 MACF1 Silent exm47472 1 39801771 [A/C] NM_012090 MACF1 Silent exm47473 1 39801787 [T/G] NM_012090 MACF1 Silent exm47490 1 39802168 [A/C] NM_012090 MACF1 Silent exm47493 1 39802283 [C/G] NM_012090 MACF1 Silent exm47507 1 39806566 [A/G] NM_012090 MACF1 Silent exm2233336 1 39816512 [T/A] NM_012090 MACF1 EXON Missense_D1612V exm47529 1 39816547 [G/C] NM_012090 MACF1 EXON Missense_L1624V exm47531 1 39816571 [T/C] NM_012090 MACF1 EXON Missense_L1632F exm47533 1 39816610 [T/G] NM_012090 MACF1 EXON Missense_A1645S exm47535 1 39816626 [T/C] NM_012090 MACF1 EXON Missense_T1650I exm47538 1 39818739 [A/G] NM_012090 MACF1 EXON Missense_V1692I exm47543 1 39818884 [A/G] NM_012090 MACF1 EXON Missense_K1740R exm47552 1 39823135 [A/G] NM_012090 MACF1 EXON Missense_N1776S exm47554 1 39823159 [T/C] NM_012090 MACF1 EXON Missense_M1784T exm47565 1 39823363 [T/C] NM_012090 MACF1 EXON Missense_P1852L exm47567 1 39823377 [T/C] NM_012090 MACF1 EXON Missense_R1857W exm47578 1 39824468 [A/G] NM_012090 MACF1 EXON Missense_A1953T exm47586 1 39824930 [A/G] NM_012090 MACF1 EXON Missense_T2018A exm2233337 1 39826513 [A/G] NM_012090 MACF1 EXON Missense_R2036Q exm47592 1 39826587 [A/G] NM_012090 MACF1 EXON Missense_I2061V exm2273640 1 39827080 [T/C] NM_012090 MACF1 EXON Missense_R2106C exm2233338 1 39833826 [T/A] NM_012090 MACF1 EXON Missense_N2198Y exm47614 1 39835817 [A/G] NM_012090 MACF1 EXON Missense_M2290V exm47615 1 39835830 [A/T] NM_012090 MACF1 EXON Missense_E2294V exm47616 1 39835843 [T/G] NM_012090 MACF1 EXON Missense_Q2298H exm47619 1 39838200 [A/G] NM_012090 MACF1 EXON Missense_N2320S exm47622 1 39838268 [C/G] NM_012090 MACF1 EXON Missense_G2343R exm47623 1 39844154 [A/G] NM_012090 MACF1 EXON Missense_G2350E exm47628 1 39844949 [T/C] NM_012090 MACF1 EXON Missense_R2389C exm47632 1 39847651 [T/G] NM_012090 MACF1 EXON Missense_V2497F exm47635 1 39847730 [A/G] NM_012090 MACF1 EXON Missense_R2523Q exm47643 1 39851239 [A/G] NM_012090 MACF1 EXON Missense_N2599S exm47653 1 39851427 [A/G] NM_012090 MACF1 EXON Missense_E2662K exm47661 1 39852860 [T/C] NM_012090 MACF1 EXON Synonymous_A2720A exm47662 1 39852883 [T/C] NM_012090 MACF1 EXON Missense_A2728V exm47664 1 39852984 [A/G] NM_012090 MACF1 EXON Missense_A2762T exm47665 1 39852985 [T/C] NM_012090 MACF1 EXON Missense_A2762V exm47686 1 39853640 [A/C] NM_012090 MACF1 EXON Missense_Q2980H exm47687 1 39853641 [T/G] NM_012090 MACF1 EXON Missense_A2981S exm47689 1 39853687 [A/T] NM_012090 MACF1 EXON Missense_V2996E exm1801884 1 39853740 [G/C] NM_012090 MACF1 EXON Missense_L3014V exm47691 1 39853800 [A/G] NM_012090 MACF1 EXON Missense_A3034T exm47699 1 39853959 [A/G] NM_012090 MACF1 EXON Missense_G3087S exm47701 1 39854002 [A/G] NM_012090 MACF1 EXON Missense_R3101Q exm47703 1 39854156 [C/G] NM_012090 MACF1 EXON Missense_E3152D exm47711 1 39854308 [A/G] NM_012090 MACF1 EXON Missense_N3203S exm47715 1 39876086 [A/T] NM_012090,NM_015038 MACF1,KIAA0754 EXON Silent,Missense_Q50L exm47717 1 39876172 [A/G] NM_012090,NM_015038 MACF1,KIAA0754 EXON Silent,Missense_A79T exm47729 1 39876421 [T/A] NM_012090,NM_015038 MACF1,KIAA0754 EXON Silent,Missense_N162Y exm47733 1 39876573 [A/C] NM_012090,NM_015038 MACF1,KIAA0754 EXON Silent,Missense_L212F exm47739 1 39876686 [A/G] NM_012090,NM_015038 MACF1,KIAA0754 EXON Silent,Missense_Q250R exm47750 1 39876934 [A/G] NM_012090,NM_015038 MACF1,KIAA0754 EXON Silent,Missense_E333K exm47766 1 39877462 [T/C] NM_012090,NM_015038 MACF1,KIAA0754 EXON Silent,Missense_H509Y exm47769 1 39877514 [T/C] NM_012090,NM_015038 MACF1,KIAA0754 EXON Silent,Missense_V526A exm47781 1 39877829 [T/C] NM_012090,NM_015038 MACF1,KIAA0754 EXON Silent,Missense_L631S exm47790 1 39878015 [A/G] NM_012090,NM_015038 MACF1,KIAA0754 EXON Silent,Missense_Q693R exm47792 1 39878081 [A/G] NM_012090,NM_015038 MACF1,KIAA0754 EXON Silent,Missense_C715Y exm47793 1 39878089 [A/G] NM_012090,NM_015038 MACF1,KIAA0754 EXON Silent,Missense_D718N exm47797 1 39878195 [A/G] NM_012090,NM_015038 MACF1,KIAA0754 EXON Silent,Missense_R753K exm47800 1 39878311 [T/G] NM_012090,NM_015038 MACF1,KIAA0754 EXON Silent,Missense_S792A exm47804 1 39878413 [A/G] NM_012090,NM_015038 MACF1,KIAA0754 EXON Silent,Missense_E826K exm47805 1 39878414 [A/C] NM_012090,NM_015038 MACF1,KIAA0754 EXON Silent,Missense_E826A exm47806 1 39878425 [A/G] NM_012090,NM_015038 MACF1,KIAA0754 EXON Silent,Missense_V830I exm47808 1 39878443 [T/C] NM_012090,NM_015038 MACF1,KIAA0754 EXON Silent,Missense_R836W exm47809 1 39878485 [A/G] NM_012090,NM_015038 MACF1,KIAA0754 EXON Silent,Missense_A850T exm47811 1 39878567 [G/C] NM_012090,NM_015038 MACF1,KIAA0754 EXON Silent,Missense_P877R exm47812 1 39878599 [A/G] NM_012090,NM_015038 MACF1,KIAA0754 EXON Silent,Missense_I888V exm47814 1 39878741 [G/C] NM_012090,NM_015038 MACF1,KIAA0754 EXON Silent,Missense_A935G exm47817 1 39878785 [A/G] NM_012090,NM_015038 MACF1,KIAA0754 EXON Silent,Missense_G950R exm47821 1 39878815 [A/G] NM_012090,NM_015038 MACF1,KIAA0754 EXON Silent,Missense_I960V exm47852 1 39879517 [A/G] NM_012090,NM_015038 MACF1,KIAA0754 EXON Silent,Missense_E1194K exm47875 1 39879900 [C/G] NM_012090,NM_015038 MACF1,KIAA0754 EXON Silent,Missense_I1321M exm47876 1 39879905 [T/C] NM_012090,NM_015038 MACF1,KIAA0754 EXON Silent,Missense_A1323V exm47882 1 39880013 [T/C] NM_012090,NM_015038 MACF1,KIAA0754 EXON Silent,Missense_L1359P exm47883 1 39880019 [A/C] NM_012090,NM_015038 MACF1,KIAA0754 EXON Silent,Missense_E1361A exm47888 1 39888185 [A/G] NM_012090 MACF1 EXON Missense_R3257Q exm47901 1 39889792 [T/G] NM_012090 MACF1 EXON Missense_D3352E exm47902 1 39889812 [A/T] NM_012090 MACF1 EXON Missense_Q3359L exm47904 1 39889856 [T/G] NM_012090 MACF1 EXON Missense_A3374S exm47907 1 39893177 [T/C] NM_012090 MACF1 EXON Missense_T3394I exm47910 1 39893281 [T/C] NM_012090 MACF1 EXON Missense_H3429Y exm47914 1 39893676 [A/G] NM_012090 MACF1 EXON Missense_Q3445R exm47915 1 39893706 [C/G] NM_012090 MACF1 EXON Missense_S3455C exm47921 1 39893909 [A/G] NM_012090 MACF1 EXON Missense_V3523I exm47928 1 39895535 [A/G] NM_012090 MACF1 EXON Missense_G3580D exm47932 1 39895727 [A/T] NM_012090 MACF1 EXON Missense_Q3644L exm47940 1 39898283 [A/G] NM_012090 MACF1 EXON Missense_R3743H exm47948 1 39900230 [T/C] NM_012090 MACF1 EXON Missense_R3842W exm47957 1 39903464 [A/G] NM_012090 MACF1 EXON Missense_E3943K exm2233347 1 39907673 [T/C] NM_012090 MACF1 EXON Missense_P4182L exm47982 1 39907949 [A/G] NM_012090 MACF1 EXON Missense_K4243R exm47994 1 39908506 [A/G] NM_012090 MACF1 EXON Missense_A4350T exm2251610 1 39908580 [A/G] NM_012090 MACF1 EXON Synonymous_Q4374Q exm2251611 1 39909159 [A/G] NM_012090 MACF1 EXON Synonymous_E4389E exm48000 1 39909159 [A/G] NM_012090 MACF1 EXON Synonymous_E4389E exm48003 1 39909220 [T/G] NM_012090 MACF1 EXON Missense_A4410S exm48005 1 39910413 [A/G] NM_012090 MACF1 EXON Missense_R4445H exm48008 1 39910477 [T/G] NM_012090 MACF1 EXON Missense_H4466Q exm48025 1 39914363 [C/G] NM_012090 MACF1 EXON Missense_S4670T exm48035 1 39917864 [A/G] NM_012090 MACF1 EXON Missense_V4760I exm2251612 1 39917872 [T/C] NM_012090 MACF1 EXON Synonymous_V4762V exm2264825 1 39919234 [A/G] NM_012090 MACF1 Silent exm48054 1 39919502 [A/G] NM_012090 MACF1 EXON Missense_I4897V exm48058 1 39920726 [T/C] NM_012090 MACF1 EXON Missense_P4952L exm48060 1 39920758 [A/G] NM_012090 MACF1 EXON Missense_A4963T exm48066 1 39924156 [A/G] NM_012090 MACF1 EXON Missense_G5005R exm48072 1 39924770 [A/G] NM_012090 MACF1 EXON Missense_S5011N exm48096 1 39934315 [T/G] NM_012090 MACF1 EXON Missense_V5202G exm48105 1 39945581 [A/G] NM_012090 MACF1 EXON Missense_R5269Q exm48106 1 39945661 [A/C] NM_012090 MACF1 EXON Missense_T5296P exm2251614 1 39950377 [T/C] NM_012090 MACF1 EXON Synonymous_S5337S exm48120 1 39951243 [A/G] NM_012090 MACF1 EXON Missense_R5357Q exm48128 1 39951304 [T/G] NM_012090 MACF1 EXON Missense_F5377L exm2268879 1 39952822 [T/C] exm48186 1 39991342 [A/G] NM_181809,NR_003929 BMP8A,PPIEL EXON Missense_A361T,Silent exm-rs4660293 1 40028180 [A/G] NM_001135653,NM_001135654,NM_003819 PABPC4,PABPC4,PABPC4 Silent,Silent,Silent exm48257 1 40034572 [T/C] NM_001135653,NM_001135654,NM_003819 PABPC4,PABPC4,PABPC4 EXON Missense_I260V,Missense_I260V,Missense_I260V exm2264826 1 40049184 [A/G] exm48300 1 40092381 [A/G] NM_014571 HEYL EXON Missense_P262L exm48307 1 40092550 [A/C] NM_014571 HEYL EXON Missense_G206C exm48310 1 40092581 [G/C] NM_014571 HEYL EXON Missense_I195M exm48311 1 40092603 [A/G] NM_014571 HEYL EXON Missense_A188V exm48313 1 40092631 [A/G] NM_014571 HEYL EXON Missense_F179L exm48314 1 40092635 [A/C] NM_014571 HEYL EXON Missense_W177C exm2251616 1 40092671 [T/C] NM_014571 HEYL EXON Synonymous_T165T exm48317 1 40092671 [T/C] NM_014571 HEYL EXON Synonymous_T165T exm48328 1 40092784 [T/C] NM_014571 HEYL EXON Missense_V128I exm48333 1 40095907 [T/C] NM_014571 HEYL EXON Missense_G102D exm2275322 1 40097233 [A/G] NM_014571 HEYL EXON Nonsense_R56X exm48341 1 40097239 [A/G] NM_014571 HEYL EXON Missense_R54W exm48342 1 40098328 [T/C] NM_014571 HEYL EXON Missense_H47R exm48348 1 40105285 [T/C] NM_014571 HEYL EXON Missense_K5E exm48350 1 40124804 [A/C] NM_032526 NT5C1A EXON Missense_S366A exm48359 1 40124935 [T/C] NM_032526 NT5C1A EXON Missense_R322H exm48365 1 40125077 [T/C] NM_032526 NT5C1A EXON Missense_I275V exm48393 1 40131295 [A/G] NM_032526 NT5C1A EXON Missense_R111W exm48397 1 40131787 [T/C] NM_032526 NT5C1A EXON Missense_H86R exm-rs873917 1 40132795 [T/G] NM_032526 NT5C1A Silent exm2251617 1 40148295 [A/G] NM_016257 HPCAL4 EXON Synonymous_D163D exm48415 1 40148335 [T/C] NM_016257 HPCAL4 EXON Missense_R150H exm48429 1 40149791 [T/G] NM_016257 HPCAL4 EXON Missense_Q66K exm48456 1 40209586 [A/C] NM_001195007,NR_036543,NM_203456,NR_036544,NM_006112 PPIE,PPIE,PPIE,PPIE,PPIE EXON Missense_E125A,Silent,Missense_E125A,Silent,Missense_E125A exm48457 1 40211072 [A/G] NM_001195007,NR_036543,NM_203456,NR_036544,NM_006112 PPIE,PPIE,PPIE,PPIE,PPIE EXON Missense_R137H,Silent,Missense_R137H,Silent,Missense_R137H exm48459 1 40211117 [T/C] NM_001195007,NR_036543,NM_203456,NR_036544,NM_006112 PPIE,PPIE,PPIE,PPIE,PPIE EXON Missense_P152L,Silent,Missense_P152L,Silent,Missense_P152L exm48474 1 40218695 [A/G] NM_001195007,NR_036543,NM_203456,NR_036544,NM_006112 PPIE,PPIE,PPIE,PPIE,PPIE EXON Missense_E270K,Silent,Missense_E270K,Silent,Missense_E270K exm2268993 1 40226134 [T/C] NM_001195007,NM_203456,NM_001720 PPIE,PPIE,BMP8B EXON Silent,Silent,Missense_R389H exm48497 1 40226206 [A/G] NM_001195007,NM_203456,NM_001720 PPIE,PPIE,BMP8B EXON Silent,Silent,Missense_A365V exm48510 1 40228799 [T/C] NM_001195007,NM_203456,NM_001720 PPIE,PPIE,BMP8B EXON Silent,Silent,Missense_M342V exm1802536 1 40228846 [A/G] NM_001195007,NM_203456,NM_001720 PPIE,PPIE,BMP8B EXON Silent,Silent,Missense_S326L exm48554 1 40235561 [A/G] NM_001720,NM_022120 BMP8B,OXCT2 EXON Silent,Missense_P456L exm48557 1 40235614 [T/C] NM_001720,NM_022120 BMP8B,OXCT2 EXON Silent,Missense_M438I exm48574 1 40236206 [A/G] NM_001720,NM_022120 BMP8B,OXCT2 EXON Silent,Missense_T241M exm48614 1 40307584 [T/C] NM_017646 TRIT1 EXON Synonymous_A412A exm1802573 1 40312903 [T/C] NM_017646 TRIT1 EXON Missense_R332H exm48623 1 40312919 [A/G] NM_017646 TRIT1 EXON Nonsense_R327X exm48633 1 40313689 [A/G] NM_017646 TRIT1 EXON Missense_R262C exm48641 1 40315871 [A/G] NM_017646 TRIT1 EXON Missense_T208M exm48642 1 40315880 [A/C] NM_017646 TRIT1 EXON Missense_R205L exm48643 1 40315888 [T/A] NM_017646 TRIT1 EXON Missense_F202L exm48649 1 40323015 [G/C] NM_017646 TRIT1 EXON Missense_I83M exm48650 1 40323028 [C/G] NM_017646 TRIT1 EXON Missense_R79P exm48659 1 40349111 [A/C] NM_017646 TRIT1 EXON Missense_G18V exm48661 1 40349142 [A/G] NM_017646 TRIT1 EXON Nonsense_R8X exm48662 1 40349148 [T/C] NM_017646 TRIT1 EXON Missense_A6T exm48669 1 40363115 [T/C] NM_001033081,NM_001033082 MYCL1,MYCL1 EXON Missense_T342A,Missense_T372A exm48683 1 40363445 [A/C] NM_001033081,NM_001033082 MYCL1,MYCL1 EXON Missense_G232C,Missense_G262C exm48692 1 40363600 [T/G] NM_001033081,NM_001033082 MYCL1,MYCL1 EXON Missense_S180Y,Missense_S210Y exm48711 1 40366962 [A/G] NM_001033081,NM_001033082,NM_005376 MYCL1,MYCL1,MYCL1 EXON Missense_P49S,Missense_P79S,Missense_P79S exm48733 1 40431601 [T/C] NM_001136493,NM_032793 MFSD2A,MFSD2A EXON Missense_T223M,Missense_T210M exm48750 1 40433345 [T/C] NM_001136493,NM_032793 MFSD2A,MFSD2A EXON Missense_R366W,Missense_R353W exm48753 1 40433537 [T/C] NM_001136493,NM_032793 MFSD2A,MFSD2A EXON Missense_A399V,Missense_A386V exm48754 1 40433552 [G/C] NM_001136493,NM_032793 MFSD2A,MFSD2A EXON Missense_A404G,Missense_A391G exm48764 1 40434281 [A/C] NM_001136493,NM_032793 MFSD2A,MFSD2A EXON Missense_R478S,Missense_R465S exm48767 1 40434386 [T/C] NM_001136493,NM_032793 MFSD2A,MFSD2A EXON Missense_R513W,Missense_R500W exm48778 1 40525097 [A/G] NM_006367,NM_001105530 CAP1,CAP1 EXON Missense_M27V,Missense_M27V exm48793 1 40529947 [T/G] NM_006367,NM_001105530 CAP1,CAP1 EXON Missense_V115L,Missense_V115L exm48796 1 40529999 [T/C] NM_006367,NM_001105530 CAP1,CAP1 EXON Missense_S132L,Missense_S132L exm48811 1 40533266 [T/G] NM_006367,NM_001105530 CAP1,CAP1 EXON Missense_C229G,Missense_C229G exm48815 1 40533320 [T/G] NM_006367,NM_001105530 CAP1,CAP1 EXON Missense_C247G,Missense_C247G exm48816 1 40533326 [T/G] NM_006367,NM_001105530 CAP1,CAP1 EXON Missense_Y249D,Missense_Y249D exm48821 1 40533357 [T/C] NM_006367,NM_001105530 CAP1,CAP1 EXON Missense_A259V,Missense_A259V exm48824 1 40535362 [T/C] NM_006367,NM_001105530 CAP1,CAP1 EXON Missense_A270V,Missense_A270V exm48842 1 40535953 [A/T] NM_006367,NM_001105530 CAP1,CAP1 EXON Synonymous_V372V,Synonymous_V372V exm48852 1 40539750 [T/C] NM_000310,NM_001142604 PPT1,PPT1 EXON Missense_I302V,Missense_I199V exm48855 1 40539817 [G/C] NM_000310,NM_001142604 PPT1,PPT1 EXON Missense_Q279H,Missense_Q176H exm48856 1 40539849 [T/G] NM_000310,NM_001142604 PPT1,PPT1 EXON Missense_L269M,Missense_L166M exm48877 1 40546155 [T/C] NM_000310,NM_001142604 PPT1,PPT1 EXON Missense_V181M,Missense_V78M exm48881 1 40555167 [A/G] NM_000310,NM_001142604 PPT1,PPT1 EXON Nonsense_R151X,Nonsense_R48X exm48883 1 40557033 [A/G] NM_000310,NM_001142604 PPT1,PPT1 EXON Missense_I134T,Silent exm48886 1 40557070 [T/A] NM_000310,NM_001142604 PPT1,PPT1 EXON Missense_R122W,Silent exm48887 1 40557071 [A/C] NM_000310,NM_001142604 PPT1,PPT1 EXON Synonymous_L121L,Silent exm48890 1 40557750 [T/C] NM_000310,NM_001142604 PPT1,PPT1 EXON Missense_N110S,Silent exm48910 1 40627183 [T/C] NM_012421 RLF EXON Missense_R38C exm48915 1 40627273 [A/G] NM_012421 RLF EXON Missense_V68I exm1802696 1 40661311 [A/G] NM_012421 RLF EXON Missense_H161R exm48931 1 40668255 [G/C] NM_012421 RLF EXON Missense_S260C exm1802711 1 40701699 [A/C] NM_012421 RLF EXON Missense_E442A exm1802712 1 40702253 [A/G] NM_012421 RLF EXON Missense_G627S exm48957 1 40702305 [A/G] NM_012421 RLF EXON Missense_N644S exm48959 1 40702377 [A/G] NM_012421 RLF EXON Missense_R668K exm48964 1 40702496 [T/G] NM_012421 RLF EXON Missense_D708Y exm48971 1 40702974 [A/C] NM_012421 RLF EXON Missense_P867H exm48972 1 40702991 [A/G] NM_012421 RLF EXON Missense_A873T exm48976 1 40703169 [T/C] NM_012421 RLF EXON Missense_V932A exm48979 1 40703244 [A/G] NM_012421 RLF EXON Missense_G957D exm48980 1 40703331 [A/C] NM_012421 RLF EXON Missense_K986T exm48983 1 40703355 [T/C] NM_012421 RLF EXON Missense_F994S exm48989 1 40703451 [T/G] NM_012421 RLF EXON Missense_G1026V exm49001 1 40704231 [A/G] NM_012421 RLF EXON Missense_E1286G exm49009 1 40704525 [T/G] NM_012421 RLF EXON Missense_S1384I exm49011 1 40704569 [T/C] NM_012421 RLF EXON Missense_S1399P exm49029 1 40705203 [T/C] NM_012421 RLF EXON Missense_I1610T exm49031 1 40705238 [T/C] NM_012421 RLF EXON Missense_R1622C exm49034 1 40705260 [T/C] NM_012421 RLF EXON Missense_P1629L exm2251619 1 40705399 [T/C] NM_012421 RLF EXON Synonymous_N1675N exm1802726 1 40705401 [T/A] NM_012421 RLF EXON Missense_H1676L exm49039 1 40705427 [C/G] NM_012421 RLF EXON Missense_Q1685E exm49040 1 40705431 [A/G] NM_012421 RLF EXON Missense_C1686Y exm49047 1 40705578 [A/C] NM_012421 RLF EXON Missense_Q1735P exm49053 1 40705726 [A/T] NM_012421 RLF EXON Missense_E1784D exm1802729 1 40705883 [A/C] NM_012421 RLF EXON Missense_H1837N exm49056 1 40705896 [C/G] NM_012421 RLF EXON Missense_T1841S exm49058 1 40705931 [A/G] NM_012421 RLF EXON Missense_T1853A exm49072 1 40716970 [A/G] NM_001008740 TMCO2 EXON Missense_V85I exm49077 1 40717052 [A/G] NM_001008740 TMCO2 EXON Missense_R112Q exm49140 1 40756572 [A/G] NM_005857 ZMPSTE24 EXON Missense_R369Q exm49145 1 40758297 [G/C] NM_005857 ZMPSTE24 EXON Missense_L462V exm49155 1 40766942 [A/G] NM_001852 COL9A2 EXON Missense_P661L exm49156 1 40766943 [T/G] NM_001852 COL9A2 EXON Missense_P661T exm1802762 1 40766972 [T/C] NM_001852 COL9A2 EXON Missense_R651Q exm2273641 1 40767041 [T/C] NM_001852 COL9A2 EXON Missense_R628Q exm49171 1 40767520 [T/C] NM_001852 COL9A2 EXON Missense_G612R exm49181 1 40768344 [T/C] NM_001852 COL9A2 EXON Missense_V581I exm49188 1 40768830 [T/C] NM_001852 COL9A2 EXON Missense_V526M exm49216 1 40770477 [T/G] NM_001852 COL9A2 EXON Missense_M384L exm49231 1 40773119 [T/G] NM_001852 COL9A2 EXON Missense_A336E exm49232 1 40773123 [C/G] NM_001852 COL9A2 EXON Missense_L335V exm49234 1 40773149 [T/C] NM_001852 COL9A2 EXON Missense_Q326R exm49235 1 40773150 [A/G] NM_001852 COL9A2 EXON Nonsense_Q326X exm49240 1 40773402 [A/C] NM_001852 COL9A2 EXON Missense_D309E exm1802790 1 40773410 [T/C] NM_001852 COL9A2 EXON Missense_G307S exm49250 1 40775800 [T/C] NM_001852 COL9A2 EXON Missense_G259S exm49256 1 40775937 [A/G] NM_001852 COL9A2 EXON Missense_T246M exm49257 1 40775980 [T/C] NM_001852 COL9A2 EXON Missense_G232S exm49264 1 40776766 [A/G] NM_001852 COL9A2 EXON Missense_P210L exm49270 1 40776934 [T/C] NM_001852 COL9A2 EXON Missense_M182V exm49278 1 40777347 [A/G] NM_001852 COL9A2 EXON Missense_P153L exm49283 1 40777772 [T/G] NM_001852 COL9A2 EXON Missense_P126T exm49295 1 40778246 [T/C] NM_001852 COL9A2 EXON Synonymous_P113P exm49296 1 40778250 [A/C] NM_001852 COL9A2 EXON Missense_L112R exm49313 1 40781317 [T/C] NM_001852 COL9A2 EXON Missense_R32Q exm49316 1 40782839 [A/G] NM_001852 COL9A2 EXON Missense_L11F exm49318 1 40782863 [T/C] NM_001852 COL9A2 EXON Missense_A3T exm49327 1 40874410 [T/C] NM_022733,NM_001198978,NM_001198979,NM_001198980 SMAP2,SMAP2,SMAP2,SMAP2 EXON Missense_P108L,Missense_P78L,Missense_P103L,Missense_P28L exm49328 1 40874411 [A/G] NM_022733,NM_001198978,NM_001198979,NM_001198980 SMAP2,SMAP2,SMAP2,SMAP2 Silent,Silent,Silent,Silent exm49344 1 40880944 [A/G] NM_022733,NM_001198978,NM_001198979,NM_001198980 SMAP2,SMAP2,SMAP2,SMAP2 EXON Missense_D191G,Missense_D161G,Missense_D186G,Missense_D111G exm49352 1 40881993 [T/C] NM_022733,NM_001198978,NM_001198979,NM_001198980 SMAP2,SMAP2,SMAP2,SMAP2 EXON Missense_T276M,Missense_T246M,Missense_T271M,Missense_T196M exm49354 1 40882469 [A/G] NM_022733,NM_001198978,NM_001198979,NM_001198980 SMAP2,SMAP2,SMAP2,SMAP2 EXON Missense_A289T,Missense_A259T,Missense_A284T,Missense_A209T exm49358 1 40882560 [C/G] NM_022733,NM_001198978,NM_001198979,NM_001198980 SMAP2,SMAP2,SMAP2,SMAP2 EXON Missense_G319A,Missense_G289A,Missense_G314A,Missense_G239A exm49364 1 40882727 [A/G] NM_022733,NM_001198978,NM_001198979,NM_001198980 SMAP2,SMAP2,SMAP2,SMAP2 EXON Missense_G375R,Missense_G345R,Missense_G370R,Missense_G295R exm49382 1 40923018 [T/C] NM_023070 ZFP69B EXON Missense_C115R exm49383 1 40923019 [A/G] NM_023070 ZFP69B EXON Missense_C115Y exm49401 1 40928278 [A/C] NM_023070 ZFP69B EXON Missense_Q208K exm49403 1 40928318 [C/G] NM_023070 ZFP69B EXON Missense_R221T exm49404 1 40928408 [A/G] NM_023070 ZFP69B EXON Missense_R251H exm49407 1 40928552 [A/G] NM_023070 ZFP69B EXON Missense_R299K exm49412 1 40928587 [T/G] NM_023070 ZFP69B EXON Nonsense_E311X exm49416 1 40928708 [T/C] NM_023070 ZFP69B EXON Missense_T351I exm49418 1 40928731 [A/G] NM_023070 ZFP69B EXON Missense_G359R exm49419 1 40928744 [A/G] NM_023070 ZFP69B EXON Missense_Y363C exm49420 1 40928780 [A/G] NM_023070 ZFP69B EXON Missense_S375N exm49426 1 40928950 [A/T] NM_023070 ZFP69B EXON Missense_T432S exm49427 1 40928969 [A/G] NM_023070 ZFP69B EXON Missense_Q438R exm49429 1 40929020 [T/C] NM_023070 ZFP69B EXON Missense_A455V exm2251621 1 40929105 [G/C] NM_023070 ZFP69B EXON Synonymous_A483A exm49438 1 40945067 [A/G] NM_198494 ZFP69 EXON Missense_E12K exm49440 1 40947434 [T/G] NM_198494 ZFP69 Silent exm49441 1 40947461 [A/G] NM_198494 ZFP69 EXON Missense_V52I exm49443 1 40954838 [G/C] NM_198494 ZFP69 EXON Missense_L100V exm49445 1 40954877 [G/C] NM_198494 ZFP69 EXON Missense_V113L exm49447 1 40955200 [C/G] NM_198494 ZFP69 Silent exm49449 1 40960619 [A/G] NM_198494 ZFP69 EXON Missense_E157K exm49458 1 40960827 [A/T] NM_198494 ZFP69 EXON Missense_F226Y exm49463 1 40960902 [A/G] NM_198494 ZFP69 EXON Missense_R251Q exm49465 1 40960959 [A/C] NM_198494 ZFP69 EXON Missense_T270N exm49484 1 40961562 [A/G] NM_198494 ZFP69 EXON Missense_R471H exm2233377 1 40961682 [A/G] NM_198494 ZFP69 EXON Missense_S511N exm49502 1 40980559 [A/G] NM_022774 EXO5 EXON Missense_D115N exm49507 1 40980668 [T/C] NM_022774 EXO5 EXON Missense_L151P exm1802873 1 40980695 [A/G] NM_022774 EXO5 EXON Missense_E160G exm49510 1 40980715 [T/C] NM_022774 EXO5 EXON Missense_P167S exm49511 1 40980724 [T/G] NM_022774 EXO5 EXON Missense_G170W exm49512 1 40980731 [T/G] NM_022774 EXO5 EXON Missense_G172V exm49517 1 40980820 [T/C] NM_022774 EXO5 EXON Missense_R202C exm49518 1 40980826 [A/G] NM_022774 EXO5 EXON Missense_M204V exm49519 1 40980856 [A/G] NM_022774 EXO5 EXON Missense_D214N exm49528 1 40981135 [A/G] NM_022774 EXO5 EXON Missense_I307V exm49537 1 40981313 [T/C] NM_022774 EXO5 EXON Missense_A366V exm49562 1 41012533 [A/C] NM_152373 ZNF684 EXON Missense_N180H exm49574 1 41012585 [A/G] NM_152373 ZNF684 EXON Missense_S197N exm49577 1 41012663 [T/C] NM_152373 ZNF684 EXON Missense_A223V exm49581 1 41012686 [A/G] NM_152373 ZNF684 EXON Missense_V231M exm49582 1 41012726 [A/C] NM_152373 ZNF684 EXON Missense_E244A exm49595 1 41013073 [A/T] NM_152373 ZNF684 EXON Missense_C360S exm49613 1 41092395 [T/C] NM_014747 RIMS3 EXON Missense_V241I exm49614 1 41094496 [T/C] NM_014747 RIMS3 EXON Missense_G234S exm49615 1 41094502 [A/G] NM_014747 RIMS3 EXON Missense_P232S exm49620 1 41094964 [G/C] NM_014747 RIMS3 EXON Missense_P185A exm49626 1 41095033 [T/C] NM_014747 RIMS3 EXON Missense_I162V exm2273642 1 41107525 [T/C] NM_014747 RIMS3 EXON Missense_G25S exm49648 1 41107564 [T/C] NM_014747 RIMS3 EXON Missense_G12R exm-rs1057925 1 41204569 [T/C] NM_001142588,NM_001142589,NM_014223,NM_001142587,NM_001142590 NFYC,NFYC,NFYC,NFYC,NFYC EXON Synonymous_S18S,Synonymous_S18S,Synonymous_S18S,Synonymous_S18S,Synonymous_S18S exm49657 1 41204615 [A/G] NM_001142588,NM_001142589,NM_014223,NM_001142587,NM_001142590 NFYC,NFYC,NFYC,NFYC,NFYC EXON Missense_T34A,Missense_T34A,Missense_T34A,Missense_T34A,Missense_T34A exm2251681 1 41223876 [T/C] NM_001142588,NM_001142589,NM_014223,NM_001142587,NM_001142590 NFYC,NFYC,NFYC,NFYC,NFYC EXON Synonymous_V157V,Synonymous_V119V,Synonymous_V157V,Synonymous_V157V,Synonymous_V157V exm49677 1 41223876 [T/C] NM_001142588,NM_001142589,NM_014223,NM_001142587,NM_001142590 NFYC,NFYC,NFYC,NFYC,NFYC EXON Synonymous_V157V,Synonymous_V119V,Synonymous_V157V,Synonymous_V157V,Synonymous_V157V exm49687 1 41232317 [T/C] NM_001142588,NM_001142589,NM_014223,NM_001142587,NM_001142590 NFYC,NFYC,NFYC,NFYC,NFYC EXON Missense_V257A,Missense_V219A,Missense_V257A,Missense_V257A,Missense_V223A exm49698 1 41236492 [A/G] NM_001142588,NM_001142589,NM_014223,NM_001142587,NM_001142590 NFYC,NFYC,NFYC,NFYC,NFYC EXON Missense_G353S,Missense_G296S,Missense_G334S,Missense_G333S,Missense_G300S exm-rs4660456 1 41239511 [A/G] exm1806652 1 41282938 [T/G] NM_004700,NM_172163 KCNQ4,KCNQ4 EXON Missense_F106V,Missense_F106V exm49741 1 41289822 [A/G] NM_004700,NM_172163 KCNQ4,KCNQ4 EXON Missense_R395Q,Silent exm49753 1 41296788 [T/C] NM_004700,NM_172163 KCNQ4,KCNQ4 EXON Missense_M442T,Missense_M388T exm49755 1 41296828 [T/G] NM_004700,NM_172163 KCNQ4,KCNQ4 EXON Missense_H455Q,Missense_H401Q exm49760 1 41296893 [T/C] NM_004700,NM_172163 KCNQ4,KCNQ4 EXON Missense_T477I,Missense_T423I exm2251683 1 41297411 [T/G] NM_004700,NM_172163 KCNQ4,KCNQ4 Silent,Silent exm2268881 1 41306571 [T/C] exm49794 1 41327281 [A/C] NM_133467 CITED4 EXON Missense_L173F exm2251684 1 41456851 [A/G] NM_001905 CTPS1 EXON Synonymous_G190G exm1806711 1 41463092 [G/C] NM_001905 CTPS1 EXON Missense_S300C exm49851 1 41468787 [T/C] NM_001905 CTPS1 EXON Synonymous_G397G exm1806721 1 41474354 [T/C] NM_001905 CTPS1 EXON Missense_Y473H exm49870 1 41475832 [C/G] NM_001905 CTPS1 Silent exm1806733 1 41482960 [A/G] NR_037868,NM_144990,NM_001168247 SLFNL1-AS1,SLFNL1,SLFNL1 EXON Silent,Synonymous_D349D,Synonymous_D349D exm49889 1 41482976 [A/G] NR_037868,NM_144990,NM_001168247 SLFNL1-AS1,SLFNL1,SLFNL1 EXON Silent,Missense_V344A,Missense_V344A exm49890 1 41482989 [T/C] NR_037868,NM_144990,NM_001168247 SLFNL1-AS1,SLFNL1,SLFNL1 EXON Silent,Missense_D340N,Missense_D340N exm49894 1 41483312 [A/G] NR_037868,NM_144990,NM_001168247 SLFNL1-AS1,SLFNL1,SLFNL1 EXON Silent,Missense_L318F,Missense_L318F exm49898 1 41483369 [T/C] NR_037868,NM_144990,NM_001168247 SLFNL1-AS1,SLFNL1,SLFNL1 EXON Silent,Missense_D299N,Missense_D299N exm49900 1 41483375 [A/G] NR_037868,NM_144990,NM_001168247 SLFNL1-AS1,SLFNL1,SLFNL1 EXON Silent,Missense_F297L,Missense_F297L exm49905 1 41483437 [T/C] NR_037868,NM_144990,NM_001168247 SLFNL1-AS1,SLFNL1,SLFNL1 EXON Silent,Missense_R276H,Missense_R276H exm49906 1 41483449 [T/C] NR_037868,NM_144990,NM_001168247 SLFNL1-AS1,SLFNL1,SLFNL1 EXON Silent,Missense_R272H,Missense_R272H exm49908 1 41483486 [T/C] NR_037868,NM_144990,NM_001168247 SLFNL1-AS1,SLFNL1,SLFNL1 EXON Silent,Missense_V260M,Missense_V260M exm49910 1 41483501 [T/C] NR_037868,NM_144990,NM_001168247 SLFNL1-AS1,SLFNL1,SLFNL1 EXON Silent,Missense_G255S,Missense_G255S exm49917 1 41483537 [T/C] NR_037868,NM_144990,NM_001168247 SLFNL1-AS1,SLFNL1,SLFNL1 EXON Silent,Missense_V243M,Missense_V243M exm49919 1 41483567 [T/C] NR_037868,NM_144990,NM_001168247 SLFNL1-AS1,SLFNL1,SLFNL1 EXON Silent,Missense_E233K,Missense_E233K exm1806741 1 41483578 [G/C] NR_037868,NM_144990,NM_001168247 SLFNL1-AS1,SLFNL1,SLFNL1 EXON Silent,Missense_R229P,Missense_R229P exm49925 1 41483693 [A/G] NR_037868,NM_144990,NM_001168247 SLFNL1-AS1,SLFNL1,SLFNL1 EXON Silent,Missense_R191W,Missense_R191W exm49929 1 41483780 [T/G] NR_037868,NM_144990,NM_001168247 SLFNL1-AS1,SLFNL1,SLFNL1 EXON Silent,Missense_P162T,Missense_P162T exm49933 1 41485902 [C/G] NR_037868,NM_144990,NM_001168247 SLFNL1-AS1,SLFNL1,SLFNL1 EXON Silent,Missense_R144T,Missense_R144T exm49944 1 41486083 [A/C] NR_037868,NM_144990,NM_001168247 SLFNL1-AS1,SLFNL1,SLFNL1 EXON Silent,Nonsense_E84X,Nonsense_E84X exm49959 1 41486196 [A/G] NR_037868,NM_144990,NM_001168247 SLFNL1-AS1,SLFNL1,SLFNL1 EXON Silent,Missense_A46V,Missense_A46V exm1806747 1 41486208 [T/A] NR_037868,NM_144990,NM_001168247 SLFNL1-AS1,SLFNL1,SLFNL1 EXON Silent,Missense_E42V,Missense_E42V exm49967 1 41486245 [T/C] NR_037868,NM_144990,NM_001168247 SLFNL1-AS1,SLFNL1,SLFNL1 EXON Silent,Missense_A30T,Missense_A30T exm49968 1 41486266 [T/C] NR_037868,NM_144990,NM_001168247 SLFNL1-AS1,SLFNL1,SLFNL1 EXON Silent,Missense_E23K,Missense_E23K exm49974 1 41486326 [A/G] NR_037868,NM_144990,NM_001168247 SLFNL1-AS1,SLFNL1,SLFNL1 EXON Silent,Missense_P3S,Missense_P3S exm50000 1 41494395 [A/G] NR_037868,NM_001172222,NM_001172218,NM_001172219,NM_012236,NM_001172220,NM_001031694,NM_001172221 SLFNL1-AS1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1 EXON Silent,Missense_S393L,Missense_S490L,Missense_S561L,Missense_S504L,Missense_S490L,Missense_S573L,Missense_S512L exm1806762 1 41512133 [A/G] NM_001172222,NM_001172218,NM_001172219,NM_012236,NM_001172220,NM_001031694,NM_001172221 SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1 EXON Missense_H314Y,Missense_H411Y,Missense_H482Y,Missense_H425Y,Missense_H411Y,Missense_H472Y,Missense_H411Y exm50022 1 41512204 [T/C] NM_001172222,NM_001172218,NM_001172219,NM_012236,NM_001172220,NM_001031694,NM_001172221 SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1 EXON Missense_R290H,Missense_R387H,Missense_R458H,Missense_R401H,Missense_R387H,Missense_R448H,Missense_R387H exm50026 1 41514407 [T/C] NM_001172222,NM_001172218,NM_001172219,NM_012236,NM_001172220,NM_001031694,NM_001172221 SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1 EXON Missense_V253I,Missense_V350I,Missense_V421I,Missense_V364I,Missense_V350I,Missense_V411I,Missense_V350I exm50029 1 41514455 [T/G] NM_001172222,NM_001172218,NM_001172219,NM_012236,NM_001172220,NM_001031694,NM_001172221 SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1 EXON Missense_Q237K,Missense_Q334K,Missense_Q405K,Missense_Q348K,Missense_Q334K,Missense_Q395K,Missense_Q334K exm-rs6686842 1 41530871 [T/C] NM_001172222,NM_001172218,NM_001172219,NM_012236,NM_001172220,NM_001031694,NM_001172221 SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1 Silent,Silent,Silent,Silent,Silent,Silent,Silent exm50037 1 41540902 [A/G] NM_001172222,NM_001172218,NM_001172219,NM_012236,NM_001172220,NM_001031694,NM_001172221 SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1 EXON Missense_P155S,Missense_P252S,Missense_P323S,Missense_P266S,Missense_P252S,Missense_P313S,Missense_P252S exm50045 1 41541123 [A/G] NM_001172222,NM_001172218,NM_001172219,NM_012236,NM_001172220,NM_001031694,NM_001172221 SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1 EXON Missense_V81A,Missense_V178A,Missense_V249A,Missense_V192A,Missense_V178A,Missense_V239A,Missense_V178A exm50063 1 41582667 [A/G] NM_001172222,NM_001172218,NM_001172219,NM_012236,NM_001172220,NM_001031694,NM_001172221 SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1 EXON Silent,Missense_A72V,Missense_A143V,Missense_A86V,Missense_A72V,Missense_A133V,Missense_A72V exm50066 1 41608595 [T/C] NM_001172222,NM_001172218,NM_001172219,NM_012236,NM_001172220,NM_001031694,NM_001172221 SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1 EXON Missense_I66V,Missense_I52V,Missense_I123V,Missense_I66V,Missense_I52V,Missense_I113V,Missense_I52V exm50068 1 41608601 [A/G] NM_001172222,NM_001172218,NM_001172219,NM_012236,NM_001172220,NM_001031694,NM_001172221 SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1 EXON Nonsense_Q64X,Nonsense_Q50X,Nonsense_Q121X,Nonsense_Q64X,Nonsense_Q50X,Nonsense_Q111X,Nonsense_Q50X exm2273643 1 41617321 [T/A] NM_001172222,NM_001172218,NM_001172219,NM_012236,NM_001172220,NM_001031694,NM_001172221 SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1 EXON Silent,Silent,Missense_C48S,Silent,Silent,Missense_C38S,Silent exm50073 1 41618297 [A/G] NM_001172222,NM_001172218,NM_001172219,NM_012236,NM_001172220,NM_001031694,NM_001172221 SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1 EXON Silent,Silent,Silent,Silent,Silent,Missense_P17L,Silent exm-rs2154319 1 41745770 [T/C] exm-rs12402711 1 41879081 [A/G] exm50093 1 41945139 [A/G] NM_001956 EDN2 EXON Nonsense_R160X exm50094 1 41945165 [T/G] NM_001956 EDN2 EXON Missense_S151Y exm50095 1 41945170 [T/G] NM_001956 EDN2 EXON Missense_D149E exm50100 1 41946812 [T/C] NM_001956 EDN2 EXON Missense_T133A exm50110 1 41948213 [A/G] NM_001956 EDN2 EXON Missense_R90C exm50113 1 41949761 [T/C] NM_001956 EDN2 EXON Missense_V60I exm50116 1 41949838 [A/G] NM_001956 EDN2 EXON Missense_A34V exm50120 1 41950242 [T/C] NM_001956 EDN2 EXON Missense_V11I exm1806809 1 41950263 [T/C] NM_001956 EDN2 EXON Missense_V4M exm2264828 1 41953186 [A/G] exm50127 1 41976132 [C/G] NM_024503,NM_001127714 HIVEP3,HIVEP3 EXON Missense_P2404R,Missense_P2403R exm50132 1 41976241 [A/G] NM_024503,NM_001127714 HIVEP3,HIVEP3 EXON Missense_R2368W,Missense_R2367W exm50148 1 41976422 [T/G] NM_024503,NM_001127714 HIVEP3,HIVEP3 EXON Missense_S2307R,Missense_S2306R exm50155 1 41976529 [T/C] NM_024503,NM_001127714 HIVEP3,HIVEP3 EXON Missense_G2272R,Missense_G2271R exm50162 1 41976616 [A/G] NM_024503,NM_001127714 HIVEP3,HIVEP3 EXON Missense_R2243C,Missense_R2242C exm50163 1 41976621 [T/C] NM_024503,NM_001127714 HIVEP3,HIVEP3 EXON Missense_R2241Q,Missense_R2240Q exm50165 1 41976636 [T/C] NM_024503,NM_001127714 HIVEP3,HIVEP3 EXON Missense_R2236Q,Missense_R2235Q exm50176 1 41976720 [T/C] NM_024503,NM_001127714 HIVEP3,HIVEP3 EXON Missense_G2208E,Missense_G2207E exm50178 1 41976727 [A/G] NM_024503,NM_001127714 HIVEP3,HIVEP3 EXON Missense_R2206W,Missense_R2205W exm50184 1 41976859 [A/G] NM_024503,NM_001127714 HIVEP3,HIVEP3 EXON Missense_H2162Y,Missense_H2161Y exm50185 1 41976865 [T/C] NM_024503,NM_001127714 HIVEP3,HIVEP3 EXON Missense_A2160T,Missense_A2159T exm2251688 1 41976914 [A/G] NM_024503,NM_001127714 HIVEP3,HIVEP3 EXON Synonymous_P2143P,Synonymous_P2142P exm50188 1 41976928 [T/C] NM_024503,NM_001127714 HIVEP3,HIVEP3 EXON Missense_E2139K,Missense_E2138K exm50193 1 41978498 [T/C] NM_024503,NM_001127714 HIVEP3,HIVEP3 EXON Missense_A2132T,Missense_A2132T exm50198 1 41978566 [T/G] NM_024503,NM_001127714 HIVEP3,HIVEP3 EXON Missense_D2109A,Missense_D2109A exm50203 1 41978647 [T/C] NM_024503,NM_001127714 HIVEP3,HIVEP3 EXON Missense_R2082Q,Missense_R2082Q exm50212 1 41978849 [T/C] NM_024503,NM_001127714 HIVEP3,HIVEP3 EXON Missense_V2015M,Missense_V2015M exm50215 1 41978890 [T/C] NM_024503,NM_001127714 HIVEP3,HIVEP3 EXON Missense_R2001Q,Missense_R2001Q exm50219 1 41978935 [A/G] NM_024503,NM_001127714 HIVEP3,HIVEP3 EXON Missense_S1986L,Missense_S1986L exm50221 1 41978953 [T/G] NM_024503,NM_001127714 HIVEP3,HIVEP3 EXON Missense_P1980Q,Missense_P1980Q exm50228 1 41979149 [T/C] NM_024503,NM_001127714 HIVEP3,HIVEP3 EXON Missense_G1915S,Missense_G1915S exm50241 1 41979283 [G/C] NM_024503,NM_001127714 HIVEP3,HIVEP3 EXON Missense_S1870T,Missense_S1870T exm50244 1 41979337 [T/C] NM_024503,NM_001127714 HIVEP3,HIVEP3 EXON Missense_D1852G,Missense_D1852G exm50247 1 41979388 [T/C] NM_024503,NM_001127714 HIVEP3,HIVEP3 EXON Missense_G1835E,Missense_G1835E exm50249 1 41984079 [T/C] NM_024503,NM_001127714 HIVEP3,HIVEP3 EXON Missense_E1822K,Missense_E1822K exm50261 1 42041242 [A/G] NM_024503,NM_001127714 HIVEP3,HIVEP3 EXON Missense_P1727L,Missense_P1727L exm50268 1 42041335 [A/G] NM_024503,NM_001127714 HIVEP3,HIVEP3 EXON Missense_P1696L,Missense_P1696L exm50270 1 42045432 [A/G] NM_024503,NM_001127714 HIVEP3,HIVEP3 EXON Synonymous_S1679S,Synonymous_S1679S exm50273 1 42045514 [T/C] NM_024503,NM_001127714 HIVEP3,HIVEP3 EXON Missense_R1652K,Missense_R1652K exm1807028 1 42045574 [A/C] NM_024503,NM_001127714 HIVEP3,HIVEP3 EXON Missense_I1632R,Missense_I1632R exm50275 1 42045587 [T/C] NM_024503,NM_001127714 HIVEP3,HIVEP3 EXON Missense_A1628T,Missense_A1628T exm50277 1 42045688 [A/T] NM_024503,NM_001127714 HIVEP3,HIVEP3 EXON Missense_Q1594L,Missense_Q1594L exm50280 1 42045709 [A/G] NM_024503,NM_001127714 HIVEP3,HIVEP3 EXON Missense_T1587M,Missense_T1587M exm50284 1 42045766 [A/G] NM_024503,NM_001127714 HIVEP3,HIVEP3 EXON Missense_P1568L,Missense_P1568L exm50285 1 42045770 [A/G] NM_024503,NM_001127714 HIVEP3,HIVEP3 EXON Missense_P1567S,Missense_P1567S exm50287 1 42045818 [T/C] NM_024503,NM_001127714 HIVEP3,HIVEP3 EXON Missense_V1551M,Missense_V1551M exm50288 1 42045829 [T/G] NM_024503,NM_001127714 HIVEP3,HIVEP3 EXON Missense_T1547N,Missense_T1547N exm1807037 1 42046300 [A/G] NM_024503,NM_001127714 HIVEP3,HIVEP3 EXON Missense_A1390V,Missense_A1390V exm50303 1 42046331 [T/G] NM_024503,NM_001127714 HIVEP3,HIVEP3 EXON Missense_P1380T,Missense_P1380T exm1807038 1 42046334 [T/C] NM_024503,NM_001127714 HIVEP3,HIVEP3 EXON Missense_G1379S,Missense_G1379S exm50308 1 42046372 [A/G] NM_024503,NM_001127714 HIVEP3,HIVEP3 EXON Missense_T1366M,Missense_T1366M exm50309 1 42046408 [A/G] NM_024503,NM_001127714 HIVEP3,HIVEP3 EXON Missense_A1354V,Missense_A1354V exm2251690 1 42046491 [A/G] NM_024503,NM_001127714 HIVEP3,HIVEP3 EXON Synonymous_N1326N,Synonymous_N1326N exm50329 1 42046979 [A/G] NM_024503,NM_001127714 HIVEP3,HIVEP3 EXON Missense_S1164P,Missense_S1164P exm50344 1 42047208 [C/G] NM_024503,NM_001127714 HIVEP3,HIVEP3 EXON Missense_Q1087H,Missense_Q1087H exm50347 1 42047234 [T/G] NM_024503,NM_001127714 HIVEP3,HIVEP3 EXON Missense_P1079T,Missense_P1079T exm50349 1 42047282 [C/G] NM_024503,NM_001127714 HIVEP3,HIVEP3 EXON Missense_P1063A,Missense_P1063A exm50350 1 42047300 [T/A] NM_024503,NM_001127714 HIVEP3,HIVEP3 EXON Missense_S1057T,Missense_S1057T exm50376 1 42047846 [A/G] NM_024503,NM_001127714 HIVEP3,HIVEP3 EXON Missense_P875S,Missense_P875S exm50378 1 42047851 [A/G] NM_024503,NM_001127714 HIVEP3,HIVEP3 EXON Missense_P873L,Missense_P873L exm50383 1 42047957 [A/G] NM_024503,NM_001127714 HIVEP3,HIVEP3 EXON Missense_R838C,Missense_R838C exm50392 1 42048122 [T/C] NM_024503,NM_001127714 HIVEP3,HIVEP3 EXON Missense_G783S,Missense_G783S exm50411 1 42048745 [T/C] NM_024503,NM_001127714 HIVEP3,HIVEP3 EXON Missense_H575R,Missense_H575R exm1807063 1 42048794 [T/C] NM_024503,NM_001127714 HIVEP3,HIVEP3 EXON Missense_G559S,Missense_G559S exm1807064 1 42048869 [C/G] NM_024503,NM_001127714 HIVEP3,HIVEP3 EXON Missense_P534A,Missense_P534A exm50434 1 42049250 [T/G] NM_024503,NM_001127714 HIVEP3,HIVEP3 EXON Missense_P407T,Missense_P407T exm1807075 1 42049603 [T/C] NM_024503,NM_001127714 HIVEP3,HIVEP3 EXON Missense_S289N,Missense_S289N exm50476 1 42050069 [T/C] NM_024503,NM_001127714 HIVEP3,HIVEP3 EXON Missense_V134M,Missense_V134M exm50477 1 42050090 [A/G] NM_024503,NM_001127714 HIVEP3,HIVEP3 EXON Missense_P127S,Missense_P127S exm50480 1 42050182 [A/G] NM_024503,NM_001127714 HIVEP3,HIVEP3 EXON Missense_P96L,Missense_P96L exm50483 1 42050248 [A/G] NM_024503,NM_001127714 HIVEP3,HIVEP3 EXON Missense_T74M,Missense_T74M exm50490 1 42050342 [A/C] NM_024503,NM_001127714 HIVEP3,HIVEP3 EXON Missense_A43S,Missense_A43S exm50494 1 42050366 [T/C] NM_024503,NM_001127714 HIVEP3,HIVEP3 EXON Missense_V35I,Missense_V35I exm50496 1 42050432 [T/C] NM_024503,NM_001127714 HIVEP3,HIVEP3 EXON Missense_A13T,Missense_A13T exm2251698 1 42105488 [T/C] NM_024503,NM_001127714 HIVEP3,HIVEP3 Silent,Silent exm2268882 1 42202714 [T/C] NM_024503,NM_001127714 HIVEP3,HIVEP3 Silent,Silent exm50511 1 42620492 [T/C] NM_007102 GUCA2B EXON Missense_P78S exm50528 1 42628581 [T/C] NM_033553 GUCA2A EXON Missense_C115Y exm50534 1 42628615 [A/G] NM_033553 GUCA2A EXON Missense_C104R exm50537 1 42629092 [A/C] NM_033553 GUCA2A EXON Nonsense_E89X exm50539 1 42629099 [T/A] NM_033553 GUCA2A EXON Missense_N86K exm50544 1 42629176 [T/C] NM_033553 GUCA2A EXON Missense_G61S exm1810585 1 42629184 [C/G] NM_033553 GUCA2A EXON Missense_P58R exm50551 1 42630341 [A/G] NM_033553 GUCA2A EXON Missense_W15R exm50554 1 42630364 [A/G] NM_033553 GUCA2A EXON Missense_S7F exm1810588 1 42630367 [A/G] NM_033553 GUCA2A EXON Missense_L6P exm50557 1 42645389 [T/C] NM_001198850,NM_001198851,NM_014947,NM_001198852 FOXJ3,FOXJ3,FOXJ3,FOXJ3 EXON Missense_I621V,Missense_I621V,Missense_I621V,Missense_I587V exm50585 1 42657196 [T/G] NM_001198850,NM_001198851,NM_014947,NM_001198852 FOXJ3,FOXJ3,FOXJ3,FOXJ3 EXON Missense_T377P,Missense_T377P,Missense_T377P,Missense_T343P exm50587 1 42657223 [T/C] NM_001198850,NM_001198851,NM_014947,NM_001198852 FOXJ3,FOXJ3,FOXJ3,FOXJ3 EXON Missense_V368I,Missense_V368I,Missense_V368I,Missense_V334I exm50590 1 42657270 [T/C] NM_001198850,NM_001198851,NM_014947,NM_001198852 FOXJ3,FOXJ3,FOXJ3,FOXJ3 EXON Missense_S352N,Missense_S352N,Missense_S352N,Missense_S318N exm50599 1 42660679 [A/C] NM_001198850,NM_001198851,NM_014947,NM_001198852 FOXJ3,FOXJ3,FOXJ3,FOXJ3 EXON Missense_Q272H,Missense_Q272H,Missense_Q272H,Missense_Q238H exm50600 1 42660684 [A/G] NM_001198850,NM_001198851,NM_014947,NM_001198852 FOXJ3,FOXJ3,FOXJ3,FOXJ3 EXON Missense_P271S,Missense_P271S,Missense_P271S,Missense_P237S exm50608 1 42671431 [A/C] NM_001198850,NM_001198851,NM_014947,NM_001198852 FOXJ3,FOXJ3,FOXJ3,FOXJ3 Silent,Silent,Silent,Silent exm1810615 1 42671481 [A/C] NM_001198850,NM_001198851,NM_014947,NM_001198852 FOXJ3,FOXJ3,FOXJ3,FOXJ3 EXON Missense_I194M,Missense_I194M,Missense_I194M,Silent exm50616 1 42693597 [A/G] NM_001198850,NM_001198851,NM_014947,NM_001198852 FOXJ3,FOXJ3,FOXJ3,FOXJ3 EXON Missense_V162A,Missense_V162A,Missense_V162A,Missense_V162A exm2251739 1 42744214 [T/G] NM_001198850,NM_001198851,NM_014947,NM_001198852 FOXJ3,FOXJ3,FOXJ3,FOXJ3 EXON Synonymous_A58A,Synonymous_A58A,Synonymous_A58A,Synonymous_A58A exm2264829 1 42806191 [A/G] exm50639 1 42865200 [T/C] NM_173642 RIMKLA EXON Missense_R97W exm50644 1 42870265 [T/C] NM_173642 RIMKLA EXON Missense_R160W exm50657 1 42880442 [A/G] NM_173642 RIMKLA EXON Missense_E325K exm-rs1055055 1 42880516 [T/C] NM_173642 RIMKLA EXON Synonymous_S349S exm50669 1 42896432 [T/G] NM_001146192,NM_032257 ZMYND12,ZMYND12 EXON Nonsense_S248X,Nonsense_S358X exm50670 1 42896441 [A/C] NM_001146192,NM_032257 ZMYND12,ZMYND12 EXON Missense_S245I,Missense_S355I exm50675 1 42898836 [T/G] NM_001146192,NM_032257 ZMYND12,ZMYND12 EXON Missense_Y208S,Missense_Y318S exm50676 1 42898843 [A/G] NM_001146192,NM_032257 ZMYND12,ZMYND12 EXON Missense_F206L,Missense_F316L exm50678 1 42898854 [T/A] NM_001146192,NM_032257 ZMYND12,ZMYND12 EXON Missense_I202N,Missense_I312N exm50680 1 42898933 [A/G] NM_001146192,NM_032257 ZMYND12,ZMYND12 EXON Missense_R176C,Missense_R286C exm50689 1 42902142 [T/C] NM_001146192,NM_032257 ZMYND12,ZMYND12 EXON Missense_I113V,Missense_I223V exm50692 1 42905547 [A/G] NM_001146192,NM_032257 ZMYND12,ZMYND12 EXON Missense_R82C,Missense_R192C exm1810673 1 42915594 [A/G] NM_001146192,NM_032257 ZMYND12,ZMYND12 EXON Missense_A30V,Missense_R83W exm50704 1 42915660 [A/G] NM_001146192,NM_032257 ZMYND12,ZMYND12 EXON Missense_A8V,Missense_R61C exm50749 1 42925453 [C/G] NM_001077447,NM_024664 PPCS,PPCS EXON Missense_Q91H,Missense_Q264H exm50763 1 43004873 [A/G] NM_001080850 CCDC30 EXON Missense_I49M exm50769 1 43004958 [A/G] NM_001080850 CCDC30 EXON Missense_E78K exm50770 1 43004982 [A/G] NM_001080850 CCDC30 Silent exm50781 1 43021838 [A/G] NM_001080850 CCDC30 EXON Missense_G146E exm50802 1 43042767 [A/G] NM_001080850 CCDC30 EXON Missense_Y311C exm50811 1 43055036 [A/G] NM_001080850 CCDC30 EXON Missense_R422K exm50825 1 43102970 [T/C] NM_001080850 CCDC30 EXON Missense_T520I exm50826 1 43102987 [T/C] NM_001080850 CCDC30 EXON Nonsense_R526X exm50830 1 43108172 [A/C] NM_001080850 CCDC30 EXON Missense_A556D exm50832 1 43108222 [A/G] NM_001080850 CCDC30 EXON Missense_I573V exm50837 1 43110409 [A/T] NM_001080850 CCDC30 EXON Missense_S607R exm50843 1 43111889 [A/G] NM_001080850 CCDC30 EXON Missense_I658M exm50855 1 43119661 [A/C] NM_001080850 CCDC30 EXON Missense_H772N exm50878 1 43131694 [T/C] NM_006347 PPIH EXON Missense_T127I exm50879 1 43132241 [A/G] NM_006347 PPIH EXON Missense_V150M exm50880 1 43132254 [T/C] NM_006347 PPIH EXON Missense_I154T exm2251751 1 43162318 [A/G] NM_004559 YBX1 EXON Synonymous_A120A exm50904 1 43162587 [A/C] NM_004559 YBX1 EXON Missense_N210T exm50905 1 43162873 [T/G] NM_004559 YBX1 EXON Missense_G227V exm50929 1 43200774 [A/C] NM_001185117,NM_001123395,NM_148960 CLDN19,CLDN19,CLDN19 EXON Silent,Silent,Missense_G220C exm50931 1 43200786 [T/C] NM_001185117,NM_001123395,NM_148960 CLDN19,CLDN19,CLDN19 EXON Silent,Silent,Missense_A216T exm50936 1 43201534 [A/G] NM_001185117,NM_001123395,NM_148960 CLDN19,CLDN19,CLDN19 EXON Missense_R186C,Silent,Silent exm50938 1 43201576 [T/C] NM_001185117,NM_001123395,NM_148960 CLDN19,CLDN19,CLDN19 EXON Missense_G172S,Missense_R200Q,Missense_R200Q exm50939 1 43201614 [T/C] NM_001185117,NM_001123395,NM_148960 CLDN19,CLDN19,CLDN19 EXON Missense_R159Q,Synonymous_P187P,Synonymous_P187P exm50951 1 43204203 [T/C] NM_001185117,NM_001123395,NM_148960 CLDN19,CLDN19,CLDN19 EXON Missense_V93M,Missense_V93M,Missense_V93M exm50954 1 43204251 [T/C] NM_001185117,NM_001123395,NM_148960 CLDN19,CLDN19,CLDN19 EXON Missense_I77V,Missense_I77V,Missense_I77V exm50957 1 43205670 [A/G] NM_001185117,NM_001123395,NM_148960 CLDN19,CLDN19,CLDN19 EXON Missense_I22T,Missense_I22T,Missense_I22T exm50959 1 43205696 [A/C] NM_001185117,NM_001123395,NM_148960 CLDN19,CLDN19,CLDN19 EXON Missense_L13F,Missense_L13F,Missense_L13F exm50983 1 43212926 [A/G] NM_022356,NM_001146289,NM_001243246 LEPRE1,LEPRE1,LEPRE1 EXON Silent,Missense_A691V,Missense_A691V exm50990 1 43213035 [T/C] NM_022356,NM_001146289,NM_001243246 LEPRE1,LEPRE1,LEPRE1 EXON Missense_T655A,Missense_T655A,Missense_T655A exm50991 1 43213068 [T/G] NM_022356,NM_001146289,NM_001243246 LEPRE1,LEPRE1,LEPRE1 EXON Missense_Q644K,Missense_Q644K,Missense_Q644K exm51004 1 43213903 [T/G] NM_022356,NM_001146289,NM_001243246 LEPRE1,LEPRE1,LEPRE1 EXON Missense_K602N,Missense_K602N,Missense_K602N exm51005 1 43213914 [T/C] NM_022356,NM_001146289,NM_001243246 LEPRE1,LEPRE1,LEPRE1 EXON Missense_V599M,Missense_V599M,Missense_V599M exm51012 1 43215917 [A/G] NM_022356,NM_001146289,NM_001243246 LEPRE1,LEPRE1,LEPRE1 EXON Missense_R554C,Missense_R554C,Missense_R554C exm51014 1 43215930 [T/C] NM_022356,NM_001146289,NM_001243246 LEPRE1,LEPRE1,LEPRE1 EXON Missense_M549I,Missense_M549I,Missense_M549I exm51016 1 43215952 [A/G] NM_022356,NM_001146289,NM_001243246 LEPRE1,LEPRE1,LEPRE1 EXON Missense_T542M,Missense_T542M,Missense_T542M exm51022 1 43217985 [T/C] NM_022356,NM_001146289,NM_001243246 LEPRE1,LEPRE1,LEPRE1 EXON Missense_N510S,Missense_N510S,Missense_N510S exm51024 1 43218010 [C/G] NM_022356,NM_001146289,NM_001243246 LEPRE1,LEPRE1,LEPRE1 EXON Missense_G502R,Missense_G502R,Missense_G502R exm51025 1 43218013 [A/G] NM_022356,NM_001146289,NM_001243246 LEPRE1,LEPRE1,LEPRE1 EXON Missense_R501W,Missense_R501W,Missense_R501W exm51040 1 43220563 [T/C] NM_022356,NM_001146289,NM_001243246 LEPRE1,LEPRE1,LEPRE1 EXON Missense_D441G,Missense_D441G,Missense_D441G exm51047 1 43220642 [T/C] NM_022356,NM_001146289,NM_001243246 LEPRE1,LEPRE1,LEPRE1 EXON Missense_V415I,Missense_V415I,Missense_V415I exm51052 1 43220851 [A/G] NM_022356,NM_001146289,NM_001243246 LEPRE1,LEPRE1,LEPRE1 EXON Missense_L403S,Missense_L403S,Missense_L403S exm51058 1 43221302 [T/C] NM_022356,NM_001146289,NM_001243246 LEPRE1,LEPRE1,LEPRE1 EXON Missense_K363E,Missense_K363E,Missense_K363E exm51061 1 43223453 [A/C] NM_022356,NM_001146289,NM_001243246 LEPRE1,LEPRE1,LEPRE1 Silent,Silent,Silent exm51065 1 43223489 [T/C] NM_022356,NM_001146289,NM_001243246 LEPRE1,LEPRE1,LEPRE1 EXON Missense_G349R,Missense_G349R,Missense_G349R exm51079 1 43224953 [A/G] NM_022356,NM_001146289,NM_001243246 LEPRE1,LEPRE1,LEPRE1 EXON Missense_R243C,Missense_R243C,Missense_R243C exm51086 1 43225039 [T/C] NM_022356,NM_001146289,NM_001243246 LEPRE1,LEPRE1,LEPRE1 EXON Missense_R214Q,Missense_R214Q,Missense_R214Q exm51093 1 43228001 [T/G] NM_022356,NM_001146289,NM_001243246 LEPRE1,LEPRE1,LEPRE1 EXON Missense_P204H,Missense_P204H,Missense_P204H exm51108 1 43232504 [A/C] NM_022356,NM_001146289,NM_001243246 LEPRE1,LEPRE1,LEPRE1 EXON Missense_A47S,Missense_A47S,Missense_A47S exm1811184 1 43232562 [G/C] NM_022356,NM_001146289,NM_001243246 LEPRE1,LEPRE1,LEPRE1 EXON Missense_E27D,Missense_E27D,Missense_E27D exm51112 1 43232984 [T/C] NM_024097,NR_040733 C1orf50,C1orf50 EXON Missense_M1T,Silent exm51121 1 43233204 [A/C] NM_024097,NR_040733 C1orf50,C1orf50 EXON Missense_T35N,Silent exm51127 1 43239249 [T/C] NM_024097,NR_040733 C1orf50,C1orf50 EXON Nonsense_R71X,Silent exm51128 1 43239274 [A/C] NM_024097,NR_040733 C1orf50,C1orf50 EXON Missense_T79K,Silent exm51132 1 43240460 [T/C] NM_024097,NR_040733 C1orf50,C1orf50 EXON Missense_I112T,Silent exm51138 1 43240901 [T/C] NM_024097,NR_040733 C1orf50,C1orf50 EXON Missense_H146Y,Silent exm51140 1 43240962 [T/C] NM_024097,NR_040733 C1orf50,C1orf50 EXON Missense_I166T,Silent exm51143 1 43240998 [T/C] NM_024097,NR_040733 C1orf50,C1orf50 EXON Missense_T178M,Silent exm51154 1 43282121 [T/C] NM_199342 CCDC23 EXON Missense_K32R exm51155 1 43282125 [C/G] NM_199342 CCDC23 EXON Missense_L31V exm51160 1 43296130 [T/C] NM_001017922,NM_018538 ERMAP,ERMAP EXON Missense_A4V,Missense_A4V exm51163 1 43296183 [T/C] NM_001017922,NM_018538 ERMAP,ERMAP EXON Missense_R22W,Missense_R22W exm51165 1 43296195 [T/C] NM_001017922,NM_018538 ERMAP,ERMAP EXON Missense_H26Y,Missense_H26Y exm51168 1 43296456 [A/G] NM_001017922,NM_018538 ERMAP,ERMAP EXON Missense_G35S,Missense_G35S exm51172 1 43296522 [A/G] NM_001017922,NM_018538 ERMAP,ERMAP EXON Missense_G57R,Missense_G57R exm51179 1 43296594 [T/C] NM_001017922,NM_018538 ERMAP,ERMAP EXON Missense_R81W,Missense_R81W exm51192 1 43301427 [T/C] NM_001017922,NM_018538 ERMAP,ERMAP EXON Missense_T192M,Missense_T192M exm51206 1 43305713 [A/G] NM_001017922,NM_018538 ERMAP,ERMAP EXON Missense_R216Q,Missense_R216Q exm51215 1 43308263 [A/G] NM_001017922,NM_018538 ERMAP,ERMAP EXON Missense_G263E,Missense_G263E exm51218 1 43308310 [A/G] NM_001017922,NM_018538 ERMAP,ERMAP EXON Missense_V279I,Missense_V279I exm51219 1 43308341 [T/C] NM_001017922,NM_018538 ERMAP,ERMAP EXON Missense_T289M,Missense_T289M exm1811291 1 43308367 [T/C] NM_001017922,NM_018538 ERMAP,ERMAP EXON Missense_Y298H,Missense_Y298H exm51229 1 43308451 [A/G] NM_001017922,NM_018538 ERMAP,ERMAP EXON Missense_N326D,Missense_N326D exm51234 1 43308524 [A/G] NM_001017922,NM_018538 ERMAP,ERMAP EXON Missense_R350H,Missense_R350H exm51241 1 43308650 [A/G] NM_001017922,NM_018538 ERMAP,ERMAP EXON Missense_R392H,Missense_R392H exm2251756 1 43308702 [A/T] NM_001017922,NM_018538 ERMAP,ERMAP EXON Synonymous_L409L,Synonymous_L409L exm51242 1 43308702 [A/T] NM_001017922,NM_018538 ERMAP,ERMAP EXON Synonymous_L409L,Synonymous_L409L exm51246 1 43316652 [A/G] NM_001242739,NM_015911 ZNF691,ZNF691 EXON Missense_S39N,Missense_S8N exm51249 1 43316688 [A/G] NM_001242739,NM_015911 ZNF691,ZNF691 EXON Missense_G51D,Missense_G20D exm51261 1 43316924 [G/C] NM_001242739,NM_015911 ZNF691,ZNF691 EXON Missense_L130V,Missense_L99V exm1811302 1 43317023 [T/C] NM_001242739,NM_015911 ZNF691,ZNF691 EXON Missense_R163W,Missense_R132W exm51289 1 43393338 [T/C] NM_006516 SLC2A1 EXON Missense_V406I exm51298 1 43394661 [A/G] NM_006516 SLC2A1 EXON Missense_I339T exm51318 1 43395326 [A/G] NM_006516 SLC2A1 EXON Missense_R269C exm1811395 1 43396718 [T/G] NM_006516 SLC2A1 EXON Synonymous_R92R exm51361 1 43408984 [T/C] NM_006516 SLC2A1 EXON Synonymous_T9T exm2268677 1 43450729 [T/C] exm-rs16830359 1 43596384 [A/G] exm2265003 1 43597014 [A/G] exm51396 1 43613737 [A/G] NM_001101376 FAM183A EXON Missense_V39M exm51407 1 43621877 [A/G] NM_001101376 FAM183A EXON Missense_I100V exm51411 1 43621956 [A/G] NM_001101376 FAM183A EXON Nonsense_W126X exm51412 1 43621973 [T/C] NM_001101376 FAM183A EXON Missense_H132Y exm51416 1 43630315 [T/A] NM_001159936,NM_006824 EBNA1BP2,EBNA1BP2 EXON Missense_N345I,Missense_N290I exm51420 1 43630460 [A/G] NM_001159936,NM_006824 EBNA1BP2,EBNA1BP2 EXON Missense_R297W,Missense_R242W exm51423 1 43632536 [T/C] NM_001159936,NM_006824 EBNA1BP2,EBNA1BP2 EXON Missense_R278H,Missense_R223H exm51424 1 43632537 [A/G] NM_001159936,NM_006824 EBNA1BP2,EBNA1BP2 EXON Missense_R278C,Missense_R223C exm51465 1 43638455 [A/G] NM_152498,NM_001195831,NM_001167965 WDR65,WDR65,WDR65 EXON Missense_V11I,Missense_V11I,Missense_V11I exm-rs621559 1 43645411 [A/G] NM_152498,NM_001195831,NM_001167965 WDR65,WDR65,WDR65 Silent,Silent,Silent exm51470 1 43647253 [A/G] NM_152498,NM_001195831,NM_001167965 WDR65,WDR65,WDR65 EXON Missense_R69Q,Missense_R69Q,Missense_R69Q exm51481 1 43647421 [A/G] NM_152498,NM_001195831,NM_001167965 WDR65,WDR65,WDR65 EXON Missense_Q125R,Missense_Q125R,Missense_Q125R exm51482 1 43647422 [C/G] NM_152498,NM_001195831,NM_001167965 WDR65,WDR65,WDR65 EXON Missense_Q125H,Missense_Q125H,Missense_Q125H exm51483 1 43647424 [T/C] NM_152498,NM_001195831,NM_001167965 WDR65,WDR65,WDR65 EXON Missense_T126M,Missense_T126M,Missense_T126M exm51487 1 43647483 [A/G] NM_152498,NM_001195831,NM_001167965 WDR65,WDR65,WDR65 EXON Missense_I146V,Missense_I146V,Missense_I146V exm51490 1 43649334 [T/G] NM_152498,NM_001195831,NM_001167965 WDR65,WDR65,WDR65 EXON Missense_A183S,Missense_A183S,Missense_A183S exm51496 1 43649424 [A/G] NM_152498,NM_001195831,NM_001167965 WDR65,WDR65,WDR65 EXON Missense_V213I,Missense_V213I,Missense_V213I exm51499 1 43649473 [A/G] NM_152498,NM_001195831,NM_001167965 WDR65,WDR65,WDR65 EXON Missense_R229H,Missense_R229H,Missense_R229H exm51500 1 43649508 [A/G] NM_152498,NM_001195831,NM_001167965 WDR65,WDR65,WDR65 EXON Missense_N241D,Missense_N241D,Missense_N241D exm51512 1 43651024 [C/G] NM_152498,NM_001195831,NM_001167965 WDR65,WDR65,WDR65 EXON Missense_I322M,Missense_I322M,Missense_I322M exm51516 1 43652442 [C/G] NM_152498,NM_001195831,NM_001167965 WDR65,WDR65,WDR65 EXON Missense_C345S,Missense_C345S,Missense_C345S exm51528 1 43663342 [A/G] NM_152498,NM_001195831,NM_001167965 WDR65,WDR65,WDR65 EXON Missense_R414H,Missense_R414H,Missense_R414H exm51532 1 43664170 [C/G] NM_152498,NM_001195831,NM_001167965 WDR65,WDR65,WDR65 EXON Missense_K427N,Missense_K427N,Missense_K427N exm51547 1 43672394 [T/C] NM_152498,NM_001195831,NM_001167965 WDR65,WDR65,WDR65 EXON Missense_R516C,Missense_R516C,Missense_R516C exm51553 1 43672499 [A/G] NM_152498,NM_001195831,NM_001167965 WDR65,WDR65,WDR65 EXON Missense_V551M,Missense_V551M,Missense_V551M exm51557 1 43672574 [T/C] NM_152498,NM_001195831,NM_001167965 WDR65,WDR65,WDR65 EXON Missense_H576Y,Missense_H576Y,Missense_H576Y exm51565 1 43675478 [A/G] NM_152498,NM_001195831,NM_001167965 WDR65,WDR65,WDR65 EXON Missense_R607H,Missense_R607H,Missense_R607H exm51566 1 43675499 [T/C] NM_152498,NM_001195831,NM_001167965 WDR65,WDR65,WDR65 EXON Missense_S614L,Missense_S614L,Missense_S614L exm51568 1 43675513 [T/C] NM_152498,NM_001195831,NM_001167965 WDR65,WDR65,WDR65 EXON Missense_R619C,Missense_R619C,Missense_R619C exm51569 1 43675514 [A/G] NM_152498,NM_001195831,NM_001167965 WDR65,WDR65,WDR65 EXON Missense_R619H,Missense_R619H,Missense_R619H exm51576 1 43675657 [A/G] NM_152498,NM_001195831,NM_001167965 WDR65,WDR65,WDR65 EXON Missense_T667A,Silent,Missense_T667A exm51611 1 43738488 [A/G] NM_144626 TMEM125 EXON Missense_R32Q exm51640 1 43738829 [A/G] NM_144626 TMEM125 EXON Missense_A146T exm51641 1 43738833 [T/C] NM_144626 TMEM125 EXON Missense_M147T exm51646 1 43738950 [T/C] NM_144626 TMEM125 EXON Missense_T186I exm51655 1 43748549 [A/C] NM_001164829,NM_182517 C1orf210,C1orf210 EXON Missense_D83E,Missense_D83E exm51662 1 43748701 [T/C] NM_001164829,NM_182517 C1orf210,C1orf210 EXON Missense_V33M,Missense_V33M exm51665 1 43748757 [T/A] NM_001164829,NM_182517 C1orf210,C1orf210 EXON Missense_L14H,Missense_L14H exm51666 1 43748763 [A/G] NM_001164829,NM_182517 C1orf210,C1orf210 EXON Missense_S12L,Missense_S12L exm51669 1 43748937 [T/C] NM_001164829,NM_182517 C1orf210,C1orf210 EXON Missense_N2S,Missense_N2S exm51673 1 43766753 [A/G] NM_005424,NM_001253357 TIE1,TIE1 EXON Missense_R4Q,Silent exm51688 1 43770936 [A/G] NM_005424,NM_001253357 TIE1,TIE1 EXON Missense_V136M,Missense_V91M exm51689 1 43771013 [T/C] NM_005424,NM_001253357 TIE1,TIE1 EXON Synonymous_N161N,Synonymous_N116N exm51695 1 43772550 [T/A] NM_005424,NM_001253357 TIE1,TIE1 EXON Missense_D175V,Missense_D130V exm51697 1 43772592 [T/C] NM_005424,NM_001253357 TIE1,TIE1 EXON Missense_S189L,Missense_S144L exm51699 1 43772597 [A/G] NM_005424,NM_001253357 TIE1,TIE1 EXON Missense_G191S,Missense_G146S exm51704 1 43772665 [A/G] NM_005424,NM_001253357 TIE1,TIE1 EXON Synonymous_R213R,Synonymous_R168R exm51705 1 43772818 [A/G] NM_005424,NM_001253357 TIE1,TIE1 EXON Missense_G216R,Missense_G171R exm51711 1 43772905 [A/G] NM_005424,NM_001253357 TIE1,TIE1 EXON Missense_V245I,Missense_V200I exm1811977 1 43773117 [T/C] NM_005424,NM_001253357 TIE1,TIE1 EXON Missense_R263C,Missense_R218C exm51713 1 43773143 [C/G] NM_005424,NM_001253357 TIE1,TIE1 EXON Missense_Q271H,Missense_Q226H exm2251775 1 43775103 [T/C] NM_005424,NM_001253357 TIE1,TIE1 EXON Synonymous_F411F,Synonymous_F366F exm51735 1 43775113 [T/C] NM_005424,NM_001253357 TIE1,TIE1 EXON Missense_R415C,Missense_R370C exm2275444 1 43775114 [A/G] NM_005424,NM_001253357 TIE1,TIE1 EXON Missense_R415H,Missense_R370H exm51736 1 43775126 [T/C] NM_005424,NM_001253357 TIE1,TIE1 EXON Missense_A419V,Missense_A374V exm51738 1 43777350 [A/G] NM_005424,NM_001253357 TIE1,TIE1 EXON Missense_V448M,Missense_V403M exm51745 1 43777417 [T/C] NM_005424,NM_001253357 TIE1,TIE1 EXON Missense_S470L,Missense_S425L exm51772 1 43778866 [T/C] NM_005424,NM_001253357 TIE1,TIE1 EXON Missense_T663I,Missense_T618I exm51778 1 43778994 [T/C] NM_005424,NM_001253357 TIE1,TIE1 EXON Missense_R706C,Missense_R661C exm1812019 1 43779072 [A/G] NM_005424,NM_001253357 TIE1,TIE1 EXON Missense_V732I,Missense_V687I exm51783 1 43779095 [T/C] NM_005424,NM_001253357 TIE1,TIE1 EXON Synonymous_N739N,Synonymous_N694N exm51803 1 43782900 [A/G] NM_005424,NM_001253357 TIE1,TIE1 EXON Missense_G814R,Missense_G769R exm51806 1 43782957 [A/G] NM_005424,NM_001253357 TIE1,TIE1 EXON Missense_V833M,Missense_V788M exm51812 1 43783021 [T/G] NM_005424,NM_001253357 TIE1,TIE1 EXON Missense_I854S,Missense_I809S exm51834 1 43785133 [T/C] NM_005424,NM_001253357 TIE1,TIE1 EXON Missense_R1014C,Missense_R969C exm51845 1 43787352 [T/C] NM_005424,NM_001253357 TIE1,TIE1 EXON Missense_A1104V,Missense_A1059V exm51847 1 43787367 [A/G] NM_005424,NM_001253357 TIE1,TIE1 EXON Missense_R1109H,Missense_R1064H exm51853 1 43803600 [T/A] NM_005373 MPL Silent exm51857 1 43803807 [T/G] NM_005373 MPL EXON Missense_K39N exm2233409 1 43803863 [T/C] NM_005373 MPL EXON Missense_A58V exm51863 1 43803875 [T/C] NM_005373 MPL EXON Missense_T62I exm51865 1 43803899 [T/C] NM_005373 MPL EXON Missense_P70L exm51868 1 43803903 [A/G] NM_005373 MPL Silent exm51879 1 43804340 [A/G] NM_005373 MPL EXON Missense_V114M exm51889 1 43805143 [A/G] NM_005373 MPL EXON Missense_Q198R exm51894 1 43805205 [G/C] NM_005373 MPL EXON Missense_Q219E exm51895 1 43805227 [A/C] NM_005373 MPL EXON Missense_S226Y exm51896 1 43805240 [A/G] NM_005373 MPL EXON Synonymous_E230E exm51897 1 43805656 [T/G] NM_005373 MPL EXON Missense_G238C exm51898 1 43805698 [T/C] NM_005373 MPL EXON Missense_Y252H exm51902 1 43806060 [A/G] NM_005373 MPL EXON Missense_A286T exm51907 1 43806166 [A/G] NM_005373 MPL EXON Missense_R321Q exm51914 1 43812138 [A/G] NM_005373 MPL EXON Missense_E335K exm51918 1 43812237 [T/G] NM_005373 MPL EXON Missense_V368L exm1812087 1 43812255 [A/G] NM_005373 MPL EXON Missense_T374A exm51943 1 43817931 [A/G] NM_005373 MPL EXON Missense_R537Q exm51947 1 43817974 [A/G] NM_005373 MPL EXON Synonymous_P551P exm51950 1 43818201 [T/G] NM_005373 MPL EXON Missense_V556F exm51957 1 43818376 [C/G] NM_005373 MPL EXON Missense_G614A exm2233411 1 43826019 [A/G] NM_001255 CDC20 EXON Missense_G238S exm51989 1 43826260 [T/G] NM_001255 CDC20 EXON Missense_S282A exm51990 1 43826261 [T/C] NM_001255 CDC20 EXON Missense_S282F exm52000 1 43826794 [A/G] NM_001255 CDC20 EXON Missense_V361I exm52012 1 43828736 [A/G] NM_001255 CDC20 EXON Missense_R479Q exm52042 1 43831268 [T/C] NM_001256402,NM_001256399,NM_001256401,NM_022821,NR_046117 ELOVL1,ELOVL1,ELOVL1,ELOVL1,ELOVL1 EXON Silent,Missense_V5M,Missense_V5M,Missense_V5M,Silent exm52044 1 43831295 [A/C] NM_001256402,NM_001256399,NM_001256401,NM_022821,NR_046117 ELOVL1,ELOVL1,ELOVL1,ELOVL1,ELOVL1 Silent,Silent,Silent,Silent,Silent exm52047 1 43850140 [A/G] NM_201542,NM_052877,NM_001001653 MED8,MED8,MED8 EXON Silent,Missense_A296V,Silent exm52051 1 43850183 [A/G] NM_201542,NM_052877,NM_001001653 MED8,MED8,MED8 EXON Silent,Missense_R282C,Silent exm52057 1 43851661 [T/C] NM_201542,NM_052877,NM_001001653 MED8,MED8,MED8 EXON Missense_A244T,Missense_A244T,Missense_A155T exm52059 1 43851729 [T/G] NM_201542,NM_052877,NM_001001653 MED8,MED8,MED8 EXON Missense_Q221P,Missense_Q221P,Missense_Q132P exm52067 1 43852334 [A/G] NM_201542,NM_052877,NM_001001653 MED8,MED8,MED8 EXON Missense_I140T,Missense_I140T,Missense_I51T exm52079 1 43854091 [C/G] NM_201542,NM_052877,NM_001001653 MED8,MED8,MED8 EXON Missense_E5D,Missense_E5D,Silent exm1812185 1 43868957 [T/C] NM_015284 SZT2 EXON Missense_T46I exm52100 1 43870091 [A/G] NM_015284 SZT2 EXON Missense_H123R exm52121 1 43886494 [T/C] NM_015284 SZT2 EXON Missense_P446S exm52143 1 43890811 [A/G] NM_015284 SZT2 EXON Missense_E860K exm52148 1 43891273 [A/T] NM_015284 SZT2 EXON Missense_K925M exm52149 1 43891286 [C/G] NM_015284 SZT2 EXON Missense_D929E exm52151 1 43891291 [T/C] NM_015284 SZT2 EXON Missense_T931M exm52153 1 43891311 [A/G] NM_015284 SZT2 EXON Missense_A938T exm52154 1 43891579 [A/G] NM_015284 SZT2 EXON Missense_K963R exm52169 1 43892785 [A/G] NM_015284 SZT2 EXON Missense_R1066H exm52171 1 43892842 [T/C] NM_015284 SZT2 EXON Missense_T1085I exm52172 1 43892961 [A/G] NM_015284 SZT2 EXON Missense_R1091H exm52175 1 43892987 [T/C] NM_015284 SZT2 EXON Missense_P1100S exm52178 1 43893029 [T/G] NM_015284 SZT2 EXON Missense_G1114W exm52184 1 43893240 [A/G] NM_015284 SZT2 EXON Missense_R1156H exm52191 1 43893693 [C/G] NM_015284 SZT2 EXON Missense_P1218A exm1812262 1 43893708 [A/G] NM_015284 SZT2 EXON Missense_A1223T exm1812265 1 43894042 [T/C] NM_015284 SZT2 EXON Missense_W1294R exm52200 1 43894045 [T/G] NM_015284 SZT2 EXON Missense_G1295C exm52201 1 43894055 [A/G] NM_015284 SZT2 EXON Missense_H1298R exm52209 1 43895417 [T/C] NM_015284 SZT2 EXON Missense_R1347C exm52210 1 43895418 [A/G] NM_015284 SZT2 EXON Missense_R1347H exm52212 1 43895462 [G/C] NM_015284 SZT2 EXON Missense_D1362H exm52217 1 43895715 [T/C] NM_015284 SZT2 EXON Missense_R1391C exm52221 1 43895743 [A/T] NM_015284 SZT2 EXON Missense_F1400Y exm52232 1 43896217 [A/G] NM_015284 SZT2 EXON Missense_V1454I exm52243 1 43896413 [A/G] NM_015284 SZT2 EXON Missense_R1519H exm52248 1 43896743 [T/C] NM_015284 SZT2 EXON Missense_S1576L exm52256 1 43897181 [T/C] NM_015284 SZT2 EXON Missense_T1635I exm52264 1 43897496 [A/G] NM_015284 SZT2 EXON Missense_R1676H exm52266 1 43897549 [T/C] NM_015284 SZT2 EXON Missense_R1694C exm52275 1 43898013 [T/C] NM_015284 SZT2 EXON Missense_A1725V exm52276 1 43898040 [A/G] NM_015284 SZT2 EXON Missense_H1734R exm52277 1 43898045 [A/G] NM_015284 SZT2 EXON Missense_E1736K exm52282 1 43898260 [T/C] NM_015284 SZT2 EXON Missense_R1782C exm52285 1 43898403 [T/G] NM_015284 SZT2 EXON Missense_S1788R exm52286 1 43898419 [T/C] NM_015284 SZT2 EXON Missense_R1794W exm52305 1 43900065 [T/C] NM_015284 SZT2 EXON Missense_I1881T exm52311 1 43900872 [A/G] NM_015284 SZT2 EXON Missense_R1912Q exm52321 1 43902884 [A/C] NM_015284 SZT2 EXON Missense_A1969E exm52325 1 43903318 [G/C] NM_015284 SZT2 EXON Missense_P2058A exm52328 1 43903355 [A/T] NM_015284 SZT2 EXON Missense_Y2070F exm52337 1 43904393 [A/G] NM_015284 SZT2 EXON Missense_V2121M exm52359 1 43905375 [A/G] NM_015284 SZT2 EXON Missense_R2269Q exm52368 1 43906169 [A/G] NM_015284 SZT2 EXON Missense_R2362Q exm52380 1 43907176 [T/C] NM_015284 SZT2 EXON Missense_R2448C exm52383 1 43907225 [T/C] NM_015284 SZT2 EXON Missense_V2464A exm52385 1 43907236 [A/G] NM_015284 SZT2 EXON Missense_V2468I exm52393 1 43907434 [A/G] NM_015284 SZT2 EXON Missense_A2506T exm1812365 1 43908279 [A/G] NM_015284 SZT2 EXON Missense_R2657Q exm52413 1 43908515 [C/G] NM_015284 SZT2 EXON Missense_T2669S exm52415 1 43908593 [A/G] NM_015284 SZT2 EXON Missense_R2695H exm52436 1 43909278 [A/G] NM_015284 SZT2 EXON Missense_R2822H exm52439 1 43909344 [T/C] NM_015284 SZT2 EXON Missense_P2844L exm52444 1 43911579 [A/G] NM_015284 SZT2 EXON Missense_R2890Q exm52445 1 43911587 [A/G] NM_015284 SZT2 EXON Missense_A2893T exm52448 1 43911874 [T/A] NM_015284 SZT2 EXON Missense_Y2924N exm52468 1 43913531 [A/G] NM_015284 SZT2 EXON Missense_Y3094C exm52480 1 43913908 [T/C] NM_015284 SZT2 EXON Missense_A3184V exm52482 1 43913968 [A/G] NM_015284 SZT2 EXON Missense_R3204Q exm52486 1 43914120 [T/C] NM_015284 SZT2 EXON Missense_H3255Y exm52520 1 43916935 [A/G] NM_015284,NM_031207,NM_001243526,NM_001190880 SZT2,HYI,HYI,HYI EXON Silent,Silent,Silent,Missense_R270W exm52521 1 43916939 [A/C] NM_015284,NM_031207,NM_001243526,NM_001190880 SZT2,HYI,HYI,HYI EXON Silent,Silent,Silent,Missense_D268E exm52524 1 43917083 [T/C] NM_015284,NM_031207,NM_001243526,NM_001190880 SZT2,HYI,HYI,HYI EXON Silent,Silent,Silent,Missense_R253Q exm52526 1 43917098 [C/G] NM_015284,NM_031207,NM_001243526,NM_001190880 SZT2,HYI,HYI,HYI EXON Silent,Silent,Silent,Missense_C248S exm52539 1 43917469 [A/C] NM_015284,NM_031207,NM_001243526,NM_001190880 SZT2,HYI,HYI,HYI EXON Silent,Missense_M185I,Missense_M210I,Missense_M185I exm52544 1 43917518 [A/G] NM_015284,NM_031207,NM_001243526,NM_001190880 SZT2,HYI,HYI,HYI EXON Silent,Missense_A169V,Missense_A194V,Missense_A169V exm52557 1 43917895 [C/G] NM_015284,NM_031207,NM_001243526,NM_001190880 SZT2,HYI,HYI,HYI EXON Silent,Missense_A136G,Missense_A161G,Missense_A136G exm52566 1 43919066 [T/C] NM_015284,NM_031207,NM_001243526,NM_001190880 SZT2,HYI,HYI,HYI EXON Silent,Missense_G101D,Silent,Missense_G101D exm52606 1 44035417 [T/C] NM_002840,NM_130440 PTPRF,PTPRF EXON Missense_T179M,Missense_T179M exm52630 1 44054530 [A/G] NM_002840,NM_130440 PTPRF,PTPRF EXON Missense_E270K,Missense_E270K exm52631 1 44054572 [A/G] NM_002840,NM_130440 PTPRF,PTPRF EXON Missense_V284I,Missense_V284I exm2264830 1 44054994 [A/G] NM_002840,NM_130440 PTPRF,PTPRF Silent,Silent exm52641 1 44056756 [T/C] NM_002840,NM_130440 PTPRF,PTPRF EXON Missense_R355C,Missense_R355C exm52642 1 44056759 [T/G] NM_002840,NM_130440 PTPRF,PTPRF EXON Missense_A356S,Missense_A356S exm52643 1 44056763 [T/C] NM_002840,NM_130440 PTPRF,PTPRF EXON Missense_A357V,Missense_A357V exm52651 1 44056889 [T/C] NM_002840,NM_130440 PTPRF,PTPRF EXON Missense_P399L,Missense_P399L exm52657 1 44057042 [A/G] NM_002840,NM_130440 PTPRF,PTPRF EXON Missense_Y450C,Missense_Y450C exm52671 1 44057497 [A/G] NM_002840,NM_130440 PTPRF,PTPRF EXON Missense_A516T,Missense_A516T exm52673 1 44057543 [T/C] NM_002840,NM_130440 PTPRF,PTPRF EXON Missense_S531L,Missense_S531L exm52675 1 44057557 [G/C] NM_002840,NM_130440 PTPRF,PTPRF EXON Missense_P536A,Missense_P536A exm52682 1 44058143 [A/G] NM_002840,NM_130440 PTPRF,PTPRF EXON Missense_D562N,Missense_D562N exm52690 1 44058233 [A/G] NM_002840,NM_130440 PTPRF,PTPRF EXON Missense_V592I,Missense_V592I exm2233428 1 44063613 [A/G] NM_002840,NM_130440 PTPRF,PTPRF EXON Missense_D670N,Missense_D670N exm1812668 1 44063670 [T/G] NM_002840,NM_130440 PTPRF,PTPRF EXON Missense_D689Y,Missense_D689Y exm52716 1 44064516 [A/G] NM_002840,NM_130440 PTPRF,PTPRF EXON Missense_V749M,Missense_V749M exm52718 1 44064534 [A/G] NM_002840,NM_130440 PTPRF,PTPRF EXON Missense_E755K,Missense_E755K exm52745 1 44069425 [A/G] NM_002840,NM_130440 PTPRF,PTPRF EXON Missense_I868V,Missense_I859V exm52748 1 44069464 [A/G] NM_002840,NM_130440 PTPRF,PTPRF EXON Missense_G881S,Missense_G872S exm52750 1 44069495 [T/G] NM_002840,NM_130440 PTPRF,PTPRF EXON Missense_R891L,Missense_R882L exm52758 1 44069636 [T/C] NM_002840,NM_130440 PTPRF,PTPRF EXON Missense_P938L,Missense_P929L exm52759 1 44069648 [T/C] NM_002840,NM_130440 PTPRF,PTPRF EXON Missense_A942V,Missense_A933V exm52766 1 44069810 [A/C] NM_002840,NM_130440 PTPRF,PTPRF EXON Missense_S996Y,Missense_S987Y exm52784 1 44071105 [T/C] NM_002840,NM_130440 PTPRF,PTPRF EXON Missense_S1127L,Missense_S1118L exm52807 1 44072122 [T/C] NM_002840,NM_130440 PTPRF,PTPRF EXON Missense_M1232T,Missense_M1223T exm52811 1 44072558 [T/C] NM_002840,NM_130440 PTPRF,PTPRF EXON Missense_P1259L,Missense_P1250L exm52815 1 44075054 [A/G] NM_002840,NM_130440 PTPRF,PTPRF EXON Synonymous_R1286R,Synonymous_R1277R exm52830 1 44083200 [T/G] NM_002840,NM_130440 PTPRF,PTPRF EXON Missense_A1386S,Missense_A1377S exm1812727 1 44084819 [A/G] NM_002840,NM_130440 PTPRF,PTPRF EXON Missense_R1531Q,Missense_R1522Q exm2233430 1 44084975 [A/G] NM_002840,NM_130440 PTPRF,PTPRF EXON Missense_T1555A,Missense_T1546A exm52866 1 44085143 [A/G] NM_002840,NM_130440 PTPRF,PTPRF EXON Missense_G1611S,Missense_G1602S exm52867 1 44085167 [T/A] NM_002840,NM_130440 PTPRF,PTPRF EXON Missense_N1619Y,Missense_N1610Y exm52868 1 44085173 [T/C] NM_002840,NM_130440 PTPRF,PTPRF EXON Missense_Y1621H,Missense_Y1612H exm52869 1 44085194 [A/G] NM_002840,NM_130440 PTPRF,PTPRF EXON Missense_G1628S,Missense_G1619S exm52880 1 44085844 [A/C] NM_002840,NM_130440 PTPRF,PTPRF EXON Missense_H1730Q,Missense_H1721Q exm52908 1 44087628 [A/G] NM_002840,NM_130440 PTPRF,PTPRF EXON Missense_R1893H,Missense_R1884H exm52919 1 44118920 [A/G] NM_014663 KDM4A EXON Missense_R25Q exm52927 1 44121415 [T/C] NM_014663 KDM4A EXON Missense_R98C exm52932 1 44125982 [T/C] NM_014663 KDM4A EXON Missense_R110C exm52959 1 44133567 [T/C] NM_014663 KDM4A EXON Missense_T347M exm52961 1 44133647 [A/G] NM_014663 KDM4A EXON Missense_M374V exm52965 1 44134887 [T/C] NM_014663 KDM4A EXON Missense_M427T exm52969 1 44137257 [A/C] NM_014663 KDM4A EXON Missense_A482E exm52971 1 44137290 [T/C] NM_014663 KDM4A EXON Missense_A493V exm52974 1 44137315 [C/G] NM_014663 KDM4A EXON Missense_F501L exm52977 1 44137320 [T/G] NM_014663 KDM4A EXON Missense_G503V exm52980 1 44137373 [A/G] NM_014663 KDM4A EXON Missense_I521V exm52988 1 44149406 [T/C] NM_014663 KDM4A EXON Missense_R596C exm52992 1 44154651 [C/G] NM_014663 KDM4A EXON Missense_S641T exm53007 1 44156702 [A/G] NM_014663 KDM4A EXON Missense_S742G exm53008 1 44156705 [A/G] NM_014663 KDM4A EXON Missense_V743I exm53032 1 44169691 [A/G] NM_014663,NR_033827 KDM4A,KDM4A-AS1 EXON Missense_V988M,Silent exm53042 1 44202014 [A/G] NR_073018,NM_174965,NM_174964,NM_006279,NM_001270463,NM_001270462,NM_001270465,NM_174970,NM_174971,NR_073016,NM_174963,NR_073017,NM_001270464,NM_001270459,NR_073021,NR_073020,NM_001270460,NR_073019,NM_001270466,NR_073023,NM_174968,NM_001270461,NM_174966,NM_174967,NM_174969 ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3 EXON Silent,Synonymous_A27A,Synonymous_A27A,Synonymous_A27A,Synonymous_A27A,Synonymous_A27A,Synonymous_A27A,Synonymous_A27A,Synonymous_A27A,Silent,Synonymous_A27A,Silent,Synonymous_A27A,Synonymous_A27A,Silent,Silent,Synonymous_A27A,Silent,Synonymous_A27A,Silent,Synonymous_A27A,Synonymous_A27A,Synonymous_A27A,Synonymous_A27A,Synonymous_A27A exm2251787 1 44202014 [A/G] NR_073018,NM_174965,NM_174964,NM_006279,NM_001270463,NM_001270462,NM_001270465,NM_174970,NM_174971,NR_073016,NM_174963,NR_073017,NM_001270464,NM_001270459,NR_073021,NR_073020,NM_001270460,NR_073019,NM_001270466,NR_073023,NM_174968,NM_001270461,NM_174966,NM_174967,NM_174969 ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3 EXON Silent,Synonymous_A27A,Synonymous_A27A,Synonymous_A27A,Synonymous_A27A,Synonymous_A27A,Synonymous_A27A,Synonymous_A27A,Synonymous_A27A,Silent,Synonymous_A27A,Silent,Synonymous_A27A,Synonymous_A27A,Silent,Silent,Synonymous_A27A,Silent,Synonymous_A27A,Silent,Synonymous_A27A,Synonymous_A27A,Synonymous_A27A,Synonymous_A27A,Synonymous_A27A exm53045 1 44202061 [C/G] NR_073018,NM_174965,NM_174964,NM_006279,NM_001270463,NM_001270462,NM_001270465,NM_174970,NM_174971,NR_073016,NM_174963,NR_073017,NM_001270464,NM_001270459,NR_073021,NR_073020,NM_001270460,NR_073019,NM_001270466,NR_073023,NM_174968,NM_001270461,NM_174966,NM_174967,NM_174969 ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3 EXON Silent,Missense_S43T,Missense_S43T,Silent,Missense_S43T,Silent,Missense_S43T,Silent,Silent,Silent,Missense_S43T,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm53051 1 44290403 [T/C] NR_073018,NM_174965,NM_174964,NM_006279,NM_001270463,NM_001270462,NM_001270465,NM_174970,NM_174971,NR_073016,NM_174963,NR_073017,NM_001270464,NM_001270459,NR_073021,NR_073020,NM_001270460,NR_073019,NM_001270466,NR_073023,NM_174968,NM_001270461,NM_174966,NM_174967,NM_174969 ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Synonymous_L54L,Silent,Synonymous_L85L,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Synonymous_L70L,Silent,Silent,Silent,Silent exm53060 1 44290530 [A/G] NR_073018,NM_174965,NM_174964,NM_006279,NM_001270463,NM_001270462,NM_001270465,NM_174970,NM_174971,NR_073016,NM_174963,NR_073017,NM_001270464,NM_001270459,NR_073021,NR_073020,NM_001270460,NR_073019,NM_001270466,NR_073023,NM_174968,NM_001270461,NM_174966,NM_174967,NM_174969 ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_T97A,Silent,Missense_T128A,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_T113A,Silent,Silent,Silent,Silent exm53063 1 44360055 [T/G] NR_073018,NM_174965,NM_174964,NM_006279,NM_001270463,NM_001270462,NM_001270465,NM_174970,NM_174971,NR_073016,NM_174963,NR_073017,NM_001270464,NM_001270459,NR_073021,NR_073020,NM_001270460,NR_073019,NM_001270466,NR_073023,NM_174968,NM_001270461,NM_174966,NM_174967,NM_174969 ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3 EXON Silent,Synonymous_R116R,Synonymous_R116R,Synonymous_R101R,Synonymous_R100R,Synonymous_L54L,Synonymous_R100R,Synonymous_R85R,Synonymous_R139R,Silent,Synonymous_R170R,Silent,Synonymous_R85R,Synonymous_R101R,Silent,Silent,Synonymous_L70L,Silent,Silent,Silent,Synonymous_R155R,Synonymous_R85R,Synonymous_R101R,Synonymous_R101R,Synonymous_R85R exm53065 1 44360114 [A/G] NR_073018,NM_174965,NM_174964,NM_006279,NM_001270463,NM_001270462,NM_001270465,NM_174970,NM_174971,NR_073016,NM_174963,NR_073017,NM_001270464,NM_001270459,NR_073021,NR_073020,NM_001270460,NR_073019,NM_001270466,NR_073023,NM_174968,NM_001270461,NM_174966,NM_174967,NM_174969 ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3 EXON Silent,Missense_R136Q,Missense_R136Q,Missense_R121Q,Missense_R120Q,Missense_R74Q,Missense_R120Q,Missense_R105Q,Missense_R159Q,Silent,Missense_R190Q,Silent,Missense_R105Q,Missense_R121Q,Silent,Silent,Missense_R90Q,Silent,Silent,Silent,Missense_R175Q,Missense_R105Q,Missense_R121Q,Missense_R121Q,Missense_R105Q exm53069 1 44363909 [T/A] NR_073018,NM_174965,NM_174964,NM_006279,NM_001270463,NM_001270462,NM_001270465,NM_174970,NM_174971,NR_073016,NM_174963,NR_073017,NM_001270464,NM_001270459,NR_073021,NR_073020,NM_001270460,NR_073019,NM_001270466,NR_073023,NM_174968,NM_001270461,NM_174966,NM_174967,NM_174969 ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3 EXON Silent,Silent,Missense_N149Y,Missense_N134Y,Missense_N133Y,Missense_N87Y,Missense_N133Y,Silent,Missense_N172Y,Silent,Missense_N203Y,Silent,Missense_N118Y,Missense_N134Y,Silent,Silent,Missense_N103Y,Silent,Silent,Silent,Missense_N188Y,Missense_N118Y,Missense_N134Y,Silent,Missense_N118Y exm2251792 1 44365273 [T/C] NR_073018,NM_174965,NM_174964,NM_006279,NM_001270463,NM_001270462,NM_001270465,NM_174970,NM_174971,NR_073016,NM_174963,NR_073017,NM_001270464,NM_001270459,NR_073021,NR_073020,NM_001270460,NR_073019,NM_001270466,NR_073023,NM_174968,NM_001270461,NM_174966,NM_174967,NM_174969 ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3 EXON Silent,Silent,Synonymous_R221R,Synonymous_R206R,Silent,Synonymous_R159R,Silent,Silent,Synonymous_R244R,Silent,Synonymous_R275R,Silent,Silent,Synonymous_R206R,Silent,Silent,Synonymous_R175R,Silent,Silent,Silent,Synonymous_R260R,Synonymous_R190R,Synonymous_R206R,Silent,Synonymous_R190R exm53083 1 44386079 [C/G] NR_073018,NM_174965,NM_174964,NM_006279,NM_001270463,NM_001270462,NM_001270465,NM_174970,NM_174971,NR_073016,NM_174963,NR_073017,NM_001270464,NM_001270459,NR_073021,NR_073020,NM_001270460,NR_073019,NM_001270466,NR_073023,NM_174968,NM_001270461,NM_174966,NM_174967,NM_174969 ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3 EXON Silent,Silent,Missense_A265P,Missense_A250P,Silent,Silent,Silent,Silent,Missense_A288P,Silent,Missense_A319P,Silent,Silent,Silent,Silent,Silent,Missense_A219P,Silent,Silent,Silent,Missense_A304P,Silent,Silent,Silent,Missense_A234P exm53086 1 44386113 [A/G] NR_073018,NM_174965,NM_174964,NM_006279,NM_001270463,NM_001270462,NM_001270465,NM_174970,NM_174971,NR_073016,NM_174963,NR_073017,NM_001270464,NM_001270459,NR_073021,NR_073020,NM_001270460,NR_073019,NM_001270466,NR_073023,NM_174968,NM_001270461,NM_174966,NM_174967,NM_174969 ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3 EXON Silent,Silent,Missense_R276Q,Missense_R261Q,Silent,Silent,Silent,Silent,Missense_R299Q,Silent,Missense_R330Q,Silent,Silent,Silent,Silent,Silent,Missense_R230Q,Silent,Silent,Silent,Missense_R315Q,Silent,Silent,Silent,Missense_R245Q exm53109 1 44395835 [A/T] NR_073018,NM_174965,NM_174964,NM_006279,NM_001270463,NM_001270462,NM_001270465,NM_174970,NM_174971,NR_073016,NM_174963,NR_073017,NM_001270464,NM_001270459,NR_073021,NR_073020,NM_001270460,NR_073019,NM_001270466,NR_073023,NM_174968,NM_001270461,NM_174966,NM_174967,NM_174969 ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3 EXON Silent,Missense_R158S,Missense_E372V,Missense_E357V,Missense_S196C,Missense_E212V,Silent,Missense_R127S,Missense_E395V,Silent,Missense_E426V,Silent,Missense_S181C,Missense_E327V,Silent,Silent,Missense_E326V,Silent,Missense_S96C,Silent,Missense_E411V,Missense_E243V,Missense_E259V,Missense_R143S,Missense_E341V exm53118 1 44401353 [T/C] NM_057090,NM_001136215,NM_057091 ARTN,ARTN,ARTN EXON Missense_S9P,Missense_S9P,Missense_S9P exm53120 1 44401384 [A/G] NM_057090,NM_001136215,NM_057091 ARTN,ARTN,ARTN EXON Missense_Q19R,Missense_Q19R,Missense_Q19R exm2233432 1 44402433 [G/C] NM_057090,NM_001136215,NM_057091 ARTN,ARTN,ARTN EXON Missense_G228A,Missense_G228A,Missense_G220A exm53162 1 44415659 [T/C] NM_014652 IPO13 EXON Missense_R219C exm53165 1 44415735 [A/T] NM_014652 IPO13 EXON Missense_Q244L exm53169 1 44422051 [A/G] NM_014652 IPO13 EXON Missense_R294Q exm53213 1 44426636 [A/G] NM_014652 IPO13 EXON Missense_R733Q exm53239 1 44433119 [C/G] NM_014652 IPO13 EXON Missense_A916P exm53246 1 44435905 [T/C] NM_001384,NM_001039589 DPH2,DPH2 EXON Missense_P20S,Missense_P20S exm53258 1 44436855 [A/G] NM_001384,NM_001039589 DPH2,DPH2 EXON Missense_A160T,Missense_A160T exm53259 1 44437086 [A/G] NM_001384,NM_001039589 DPH2,DPH2 EXON Missense_R171Q,Silent exm53265 1 44437266 [A/G] NM_001384,NM_001039589 DPH2,DPH2 EXON Missense_D231G,Silent exm53267 1 44437298 [A/G] NM_001384,NM_001039589 DPH2,DPH2 EXON Missense_A242T,Silent exm53268 1 44437361 [T/C] NM_001384,NM_001039589 DPH2,DPH2 EXON Missense_R263W,Silent exm1812892 1 44437418 [T/C] NM_001384,NM_001039589 DPH2,DPH2 EXON Missense_R282C,Silent exm53274 1 44437419 [A/G] NM_001384,NM_001039589 DPH2,DPH2 EXON Missense_R282H,Silent exm53283 1 44437629 [A/G] NM_001384,NM_001039589 DPH2,DPH2 EXON Missense_G352D,Silent exm53291 1 44437992 [A/G] NM_001384,NM_001039589 DPH2,DPH2 EXON Missense_E444G,Missense_E216G exm53293 1 44438087 [T/C] NM_001384,NM_001039589 DPH2,DPH2 EXON Missense_A449V,Missense_A221V exm53302 1 44438171 [A/G] NM_001384,NM_001039589 DPH2,DPH2 EXON Missense_R477Q,Missense_R249Q exm53325 1 44442857 [C/G] NM_004047,NM_001039457 ATP6V0B,ATP6V0B EXON Missense_G187A,Missense_G140A exm53338 1 44446937 [T/C] NM_003780,NM_030587,NM_001005417 B4GALT2,B4GALT2,B4GALT2 EXON Synonymous_Y35Y,Synonymous_Y64Y,Synonymous_Y35Y exm53347 1 44447064 [A/G] NM_003780,NM_030587,NM_001005417 B4GALT2,B4GALT2,B4GALT2 EXON Missense_G78R,Missense_G107R,Missense_G78R exm53353 1 44447413 [C/G] NM_003780,NM_030587,NM_001005417 B4GALT2,B4GALT2,B4GALT2 EXON Missense_Q122H,Missense_Q151H,Missense_Q122H exm53360 1 44447579 [A/G] NM_003780,NM_030587,NM_001005417 B4GALT2,B4GALT2,B4GALT2 EXON Missense_V178I,Missense_V207I,Missense_V178I exm53380 1 44451245 [A/G] NM_003780,NM_030587,NM_001005417 B4GALT2,B4GALT2,B4GALT2 EXON Missense_R307H,Missense_R336H,Missense_R307H exm53383 1 44456012 [T/C] NM_003780,NM_030587,NM_001005417 B4GALT2,B4GALT2,B4GALT2 EXON Synonymous_D337D,Synonymous_D366D,Synonymous_D337D exm53385 1 44456078 [A/G] NM_003780,NM_030587,NM_001005417 B4GALT2,B4GALT2,B4GALT2 EXON Synonymous_T359T,Synonymous_T388T,Synonymous_T359T exm53386 1 44456090 [A/G] NM_003780,NM_030587,NM_001005417 B4GALT2,B4GALT2,B4GALT2 EXON Synonymous_G363G,Synonymous_G392G,Synonymous_G363G exm53404 1 44457957 [T/C] NM_152499 CCDC24 EXON Missense_P67L exm53420 1 44458286 [T/C] NM_152499 CCDC24 EXON Missense_F132L exm1812960 1 44458301 [T/G] NM_152499 CCDC24 EXON Missense_G137C exm2233434 1 44461331 [G/C] NM_152499 CCDC24 EXON Missense_P204R exm53433 1 44461485 [A/C] NM_152499 CCDC24 EXON Missense_L220M exm53438 1 44461615 [A/G] NM_152499 CCDC24 EXON Missense_R236Q exm53441 1 44461662 [T/C] NM_152499 CCDC24 EXON Missense_C252R exm53443 1 44461726 [A/G] NM_152499 CCDC24 EXON Missense_R273Q exm53451 1 44461778 [G/C] NM_152499 CCDC24 EXON Missense_R290S exm53453 1 44461821 [A/G] NM_152499 CCDC24 EXON Missense_A305T exm53454 1 44461822 [T/C] NM_152499 CCDC24 EXON Missense_A305V exm53465 1 44463309 [T/C] NR_048548,NM_001024845,NM_001261380,NM_201649,NM_006934,NR_048549 SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9 EXON Silent,Missense_G604S,Missense_G608S,Missense_G677S,Missense_G623S,Silent exm53469 1 44463398 [A/G] NR_048548,NM_001024845,NM_001261380,NM_201649,NM_006934,NR_048549 SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9 EXON Silent,Missense_A574V,Missense_A578V,Missense_A647V,Missense_A593V,Silent exm53489 1 44466494 [A/G] NR_048548,NM_001024845,NM_001261380,NM_201649,NM_006934,NR_048549 SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9 EXON Silent,Missense_P494L,Missense_P498L,Missense_P567L,Missense_P513L,Silent exm53502 1 44467117 [A/G] NR_048548,NM_001024845,NM_001261380,NM_201649,NM_006934,NR_048549 SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9 EXON Silent,Missense_P382L,Missense_P386L,Missense_P455L,Missense_P401L,Silent exm53507 1 44467259 [T/C] NR_048548,NM_001024845,NM_001261380,NM_201649,NM_006934,NR_048549 SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9 EXON Silent,Missense_V335I,Missense_V339I,Missense_V408I,Missense_V354I,Silent exm2233436 1 44467986 [A/G] NR_048548,NM_001024845,NM_001261380,NM_201649,NM_006934,NR_048549 SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9 EXON Silent,Missense_R321W,Missense_R325W,Missense_R394W,Missense_R340W,Silent exm53530 1 44474098 [T/C] NR_048548,NM_001024845,NM_001261380,NM_201649,NM_006934,NR_048549 SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9 EXON Silent,Missense_A173T,Missense_A177T,Missense_A246T,Missense_A192T,Silent exm53534 1 44474143 [T/C] NR_048548,NM_001024845,NM_001261380,NM_201649,NM_006934,NR_048549 SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9 EXON Silent,Missense_G158S,Missense_G162S,Missense_G231S,Missense_G177S,Silent exm53548 1 44477251 [G/C] NR_048548,NM_001024845,NM_001261380,NM_201649,NM_006934,NR_048549 SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9 EXON Silent,Silent,Silent,Missense_H77Q,Silent,Silent exm53562 1 44482771 [T/C] NR_048548,NM_001024845,NM_001261380,NM_201649,NM_006934,NR_048549 SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9 EXON Silent,Silent,Missense_R12H,Missense_R12H,Missense_R12H,Silent exm53568 1 44482799 [T/C] NR_048548,NM_001024845,NM_001261380,NM_201649,NM_006934,NR_048549 SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9 EXON Silent,Silent,Missense_G3S,Missense_G3S,Missense_G3S,Silent exm2260323 1 44487280 [T/C] NM_001024845,NR_048549 SLC6A9,SLC6A9 Silent,Silent exm1813276 1 44584638 [A/G] NM_173484 KLF17 EXON Missense_Q20R exm2268678 1 44587512 [T/C] NM_173484 KLF17 Silent exm53580 1 44595047 [A/T] NM_173484 KLF17 EXON Missense_I35N exm53584 1 44595113 [C/G] NM_173484 KLF17 EXON Missense_S57T exm53587 1 44595183 [T/G] NM_173484 KLF17 EXON Missense_Q80H exm53589 1 44595221 [T/C] NM_173484 KLF17 EXON Missense_L93P exm53603 1 44595352 [C/G] NM_173484 KLF17 EXON Missense_E137Q exm1813284 1 44595392 [A/G] NM_173484 KLF17 EXON Missense_N150S exm53608 1 44595399 [G/C] NM_173484 KLF17 EXON Missense_R152S exm53609 1 44595410 [A/G] NM_173484 KLF17 EXON Missense_N156S exm53614 1 44595487 [T/C] NM_173484 KLF17 EXON Missense_L182F exm53617 1 44595524 [G/C] NM_173484 KLF17 EXON Missense_P194R exm53621 1 44595622 [T/C] NM_173484 KLF17 EXON Missense_S227P exm53624 1 44595708 [T/C] NM_173484 KLF17 EXON Synonymous_P255P exm2251800 1 44595708 [T/C] NM_173484 KLF17 EXON Synonymous_P255P exm53626 1 44595743 [A/G] NM_173484 KLF17 EXON Missense_R267K exm1813291 1 44595844 [A/G] NM_173484 KLF17 EXON Missense_V301M exm53631 1 44595857 [A/G] NM_173484 KLF17 EXON Missense_R305H exm53635 1 44596297 [T/C] NM_173484 KLF17 EXON Nonsense_Q347X exm53666 1 44683998 [G/C] NM_001034023,NM_019100,NM_001034024 DMAP1,DMAP1,DMAP1 EXON Missense_V137L,Missense_V137L,Missense_V137L exm53677 1 44684309 [A/C] NM_001034023,NM_019100,NM_001034024 DMAP1,DMAP1,DMAP1 EXON Missense_K201T,Missense_K201T,Missense_K201T exm53687 1 44684855 [A/G] NM_001034023,NM_019100,NM_001034024 DMAP1,DMAP1,DMAP1 EXON Missense_R283H,Missense_R283H,Missense_R283H exm53698 1 44685695 [A/G] NM_001034023,NM_019100,NM_001034024 DMAP1,DMAP1,DMAP1 EXON Missense_S353N,Missense_S353N,Missense_S353N exm53700 1 44685725 [T/C] NM_001034023,NM_019100,NM_001034024 DMAP1,DMAP1,DMAP1 EXON Missense_M363T,Missense_M363T,Missense_M363T exm2233440 1 44685747 [C/G] NM_001034023,NM_019100,NM_001034024 DMAP1,DMAP1,DMAP1 EXON Missense_D370E,Missense_D370E,Missense_D370E exm53705 1 44685854 [A/G] NM_001034023,NM_019100,NM_001034024 DMAP1,DMAP1,DMAP1 EXON Missense_G406D,Missense_G406D,Missense_G406D exm53707 1 44685884 [T/C] NM_001034023,NM_019100,NM_001034024 DMAP1,DMAP1,DMAP1 EXON Missense_P416L,Missense_P416L,Missense_P416L exm53709 1 44685886 [A/G] NM_001034023,NM_019100,NM_001034024 DMAP1,DMAP1,DMAP1 EXON Missense_A417T,Missense_A417T,Missense_A417T exm2273646 1 44685913 [T/C] NM_001034023,NM_019100,NM_001034024 DMAP1,DMAP1,DMAP1 EXON Missense_P426S,Missense_P426S,Missense_P426S exm1813324 1 44685926 [T/C] NM_001034023,NM_019100,NM_001034024 DMAP1,DMAP1,DMAP1 EXON Missense_P430L,Missense_P430L,Missense_P430L exm2251803 1 44687242 [T/C] NM_024066 ERI3 EXON Synonymous_S334S exm2251807 1 44785393 [T/C] NM_024066 ERI3 EXON Synonymous_L171L exm53745 1 44804892 [T/C] NM_024066 ERI3 EXON Missense_H105R exm53773 1 44877962 [A/G] NM_018150 RNF220 EXON Missense_G65S exm53774 1 44877983 [A/G] NM_018150 RNF220 EXON Missense_M72V exm53776 1 44878067 [T/G] NM_018150 RNF220 EXON Missense_A100S exm2260330 1 45047805 [T/C] NM_018150 RNF220 Silent exm2268679 1 45051656 [T/C] NM_018150 RNF220 Silent exm53800 1 45098016 [C/G] NM_018150 RNF220 EXON Missense_T303S exm53813 1 45101717 [A/G] NM_018150 RNF220 EXON Missense_M337V exm53815 1 45101765 [T/C] NM_018150 RNF220 EXON Missense_F353L exm53819 1 45110400 [A/G] NM_018150 RNF220 EXON Missense_E386G exm53823 1 45110683 [A/G] NM_018150 RNF220 EXON Missense_V414I exm53824 1 45110690 [T/C] NM_018150 RNF220 EXON Missense_P416L exm53831 1 45110910 [T/C] NM_018150 RNF220 EXON Missense_T443M exm2251820 1 45115596 [T/C] NM_018150 RNF220 EXON Synonymous_H532H exm53852 1 45120239 [A/G] NM_024587 TMEM53 EXON Missense_R276C exm2251822 1 45120405 [A/G] NM_024587 TMEM53 EXON Synonymous_D220D exm53873 1 45120542 [T/C] NM_024587 TMEM53 EXON Missense_V175M exm53881 1 45120662 [C/G] NM_024587 TMEM53 EXON Missense_L135V exm53886 1 45120674 [A/G] NM_024587 TMEM53 EXON Missense_R131C exm53890 1 45120722 [T/C] NM_024587 TMEM53 EXON Missense_G115S exm53902 1 45140038 [A/G] NM_024587 TMEM53 EXON Missense_T9I exm53909 1 45162818 [C/G] NM_001145636 C1orf228 EXON Missense_G84A exm53912 1 45166717 [C/G] NM_001145636 C1orf228 EXON Missense_G189R exm53917 1 45189817 [A/G] NM_001145636 C1orf228 EXON Missense_V250I exm53931 1 45205606 [A/T] NM_006845 KIF2C EXON Missense_M1K exm53940 1 45213152 [A/G] NM_006845 KIF2C EXON Missense_I88V exm53978 1 45224990 [T/C] NM_006845 KIF2C EXON Missense_I446T exm53979 1 45224998 [A/C] NM_006845 KIF2C EXON Missense_I449L exm1814239 1 45225004 [A/G] NM_006845 KIF2C EXON Missense_M451V exm53983 1 45225999 [T/C] NM_006845 KIF2C EXON Missense_A472V exm53990 1 45226103 [C/G] NM_006845 KIF2C EXON Missense_R507G exm54007 1 45228107 [T/C] NM_006845 KIF2C EXON Missense_A614V exm54009 1 45228236 [T/A] NM_006845 KIF2C EXON Missense_E626V exm54013 1 45228274 [A/T] NM_006845 KIF2C EXON Missense_T639S exm54021 1 45232574 [T/C] NM_006845 KIF2C EXON Missense_A683V exm54024 1 45232619 [A/G] NM_006845 KIF2C EXON Missense_R698Q exm54100 1 45250841 [A/G] NM_153274 BEST4 EXON Missense_P284L exm54119 1 45252159 [T/C] NM_153274 BEST4 EXON Missense_T153A exm54124 1 45252294 [T/A] NM_153274 BEST4 EXON Missense_C108S exm54130 1 45253101 [A/G] NM_153274 BEST4 EXON Nonsense_Q64X exm54133 1 45253126 [G/C] NM_153274 BEST4 EXON Synonymous_T55T exm54134 1 45253226 [T/C] NM_153274 BEST4 EXON Missense_R51Q exm54135 1 45253227 [T/G] NM_153274 BEST4 EXON Synonymous_R51R exm54167 1 45267346 [T/G] NM_004073 PLK3 EXON Missense_R163L exm54169 1 45267393 [T/C] NM_004073 PLK3 EXON Missense_R179C exm54177 1 45268632 [T/C] NM_004073 PLK3 EXON Missense_T252M exm54180 1 45268662 [T/C] NM_004073 PLK3 EXON Missense_T262M exm54187 1 45268781 [T/C] NM_004073 PLK3 EXON Missense_R302C exm54202 1 45269307 [A/G] NM_004073 PLK3 EXON Missense_G370S exm54221 1 45270119 [A/G] NM_004073 PLK3 EXON Missense_R484H exm54228 1 45270383 [T/C] NM_004073 PLK3 EXON Missense_R523W exm2273647 1 45271238 [A/G] NM_004073 PLK3 EXON Missense_R610H exm54238 1 45271250 [T/C] NM_004073 PLK3 EXON Missense_T614I exm54245 1 45271700 [A/G] NM_001013632 TCTEX1D4 EXON Missense_T214M exm54270 1 45272201 [A/G] NM_001013632 TCTEX1D4 EXON Missense_P47L exm54275 1 45274514 [A/G] NM_001136537 BTBD19 EXON Missense_V8M exm54282 1 45276025 [G/C] NM_001136537 BTBD19 EXON Missense_T76S exm54285 1 45276242 [T/C] NM_001136537 BTBD19 EXON Missense_T106I exm54306 1 45288110 [T/C] NM_001166292,NM_003738 PTCH2,PTCH2 EXON Silent,Missense_G1197R exm54311 1 45288336 [T/C] NM_001166292,NM_003738 PTCH2,PTCH2 EXON Missense_I1121M,Missense_I1121M exm54315 1 45288818 [G/C] NM_001166292,NM_003738 PTCH2,PTCH2 EXON Missense_V1094L,Missense_V1094L exm2251832 1 45288983 [A/G] NM_001166292,NM_003738 PTCH2,PTCH2 EXON Synonymous_T1063T,Synonymous_T1063T exm54324 1 45288988 [T/C] NM_001166292,NM_003738 PTCH2,PTCH2 EXON Missense_V1062M,Missense_V1062M exm54338 1 45291981 [T/C] NM_001166292,NM_003738 PTCH2,PTCH2 EXON Missense_V1019M,Missense_V1019M exm54342 1 45292173 [A/G] NM_001166292,NM_003738 PTCH2,PTCH2 EXON Missense_T988M,Missense_T988M exm54348 1 45292234 [T/C] NM_001166292,NM_003738 PTCH2,PTCH2 EXON Missense_V968I,Missense_V968I exm54352 1 45292333 [T/C] NM_001166292,NM_003738 PTCH2,PTCH2 EXON Missense_A935T,Missense_A935T exm54353 1 45292354 [T/C] NM_001166292,NM_003738 PTCH2,PTCH2 EXON Missense_E928K,Missense_E928K exm54358 1 45292576 [T/C] NM_001166292,NM_003738 PTCH2,PTCH2 EXON Missense_R898H,Missense_R898H exm54360 1 45292591 [A/G] NM_001166292,NM_003738 PTCH2,PTCH2 EXON Missense_T893M,Missense_T893M exm54409 1 45293579 [T/C] NM_001166292,NM_003738 PTCH2,PTCH2 EXON Missense_R665H,Missense_R665H exm54410 1 45293580 [A/G] NM_001166292,NM_003738 PTCH2,PTCH2 EXON Missense_R665C,Missense_R665C exm54414 1 45293709 [A/G] NM_001166292,NM_003738 PTCH2,PTCH2 EXON Missense_H622Y,Missense_H622Y exm54418 1 45293793 [T/C] NM_001166292,NM_003738 PTCH2,PTCH2 EXON Missense_A594T,Missense_A594T exm54432 1 45294261 [T/C] NM_001166292,NM_003738 PTCH2,PTCH2 EXON Missense_V503I,Missense_V503I exm54434 1 45294291 [T/C] NM_001166292,NM_003738 PTCH2,PTCH2 EXON Missense_E493K,Missense_E493K exm54459 1 45295296 [T/C] NM_001166292,NM_003738 PTCH2,PTCH2 EXON Missense_R358H,Missense_R358H exm54477 1 45296598 [G/C] NM_001166292,NM_003738 PTCH2,PTCH2 EXON Missense_Q245H,Missense_Q245H exm54484 1 45296711 [A/G] NM_001166292,NM_003738 PTCH2,PTCH2 EXON Missense_R208C,Missense_R208C exm54519 1 45340342 [A/C] NM_020365,NM_001261418,NM_001166588 EIF2B3,EIF2B3,EIF2B3 EXON Silent,Silent,Missense_S404A exm54520 1 45340416 [C/G] NM_020365,NM_001261418,NM_001166588 EIF2B3,EIF2B3,EIF2B3 EXON Missense_C379S,Missense_C379S,Missense_C379S exm54528 1 45341318 [A/G] NM_020365,NM_001261418,NM_001166588 EIF2B3,EIF2B3,EIF2B3 EXON Missense_S342L,Missense_S342L,Missense_S342L exm54529 1 45341360 [T/C] NM_020365,NM_001261418,NM_001166588 EIF2B3,EIF2B3,EIF2B3 EXON Missense_K328R,Missense_K328R,Missense_K328R exm54537 1 45345632 [T/C] NM_020365,NM_001261418,NM_001166588 EIF2B3,EIF2B3,EIF2B3 EXON Missense_Y278C,Missense_Y278C,Missense_Y278C exm2251836 1 45363092 [T/C] NM_020365,NM_001261418,NM_001166588 EIF2B3,EIF2B3,EIF2B3 EXON Synonymous_T197T,Synonymous_T197T,Synonymous_T197T exm54550 1 45392402 [T/C] NM_020365,NM_001261418,NM_001166588 EIF2B3,EIF2B3,EIF2B3 EXON Missense_R155H,Missense_R155H,Missense_R155H exm54556 1 45407190 [T/C] NM_020365,NM_001261418,NM_001166588 EIF2B3,EIF2B3,EIF2B3 EXON Missense_K148E,Missense_K148E,Missense_K148E exm2233455 1 45407193 [G/C] NM_020365,NM_001261418,NM_001166588 EIF2B3,EIF2B3,EIF2B3 EXON Missense_G147R,Missense_G147R,Missense_G147R exm54569 1 45444057 [A/G] NM_020365,NM_001261418,NM_001166588 EIF2B3,EIF2B3,EIF2B3 EXON Missense_I75T,Missense_I75T,Missense_I75T exm54573 1 45446707 [T/C] NM_020365,NM_001261418,NM_001166588 EIF2B3,EIF2B3,EIF2B3 EXON Missense_R45H,Missense_R45H,Missense_R45H exm54576 1 45446797 [T/C] NM_020365,NM_001261418,NM_001166588 EIF2B3,EIF2B3,EIF2B3 EXON Missense_R15Q,Missense_R15Q,Missense_R15Q exm2233456 1 45446819 [A/T] NM_020365,NM_001261418,NM_001166588 EIF2B3,EIF2B3,EIF2B3 EXON Missense_M8L,Missense_M8L,Missense_M8L exm2264831 1 45460832 [A/G] exm54587 1 45469240 [A/G] NM_024602 HECTD3 EXON Missense_V837A exm54598 1 45469567 [A/G] NM_024602 HECTD3 EXON Missense_R797C exm54602 1 45469777 [A/C] NM_024602 HECTD3 EXON Missense_S768A exm54606 1 45470003 [A/G] NM_024602 HECTD3 EXON Missense_V730A exm54624 1 45471784 [T/C] NM_024602 HECTD3 EXON Missense_N577S exm54659 1 45474828 [T/C] NM_024602 HECTD3 EXON Missense_V354M exm54682 1 45475886 [T/C] NM_024602 HECTD3 EXON Missense_V204I exm54684 1 45475906 [A/G] NM_024602 HECTD3 EXON Missense_A197V exm54692 1 45476368 [C/G] NM_024602 HECTD3 EXON Missense_A127G exm54694 1 45476563 [T/C] NM_024602 HECTD3 EXON Missense_K123E exm1814818 1 45478832 [A/G] NM_000374,NR_036510 UROD,UROD EXON Missense_Q53R,Silent exm54716 1 45479293 [T/C] NM_000374,NR_036510 UROD,UROD EXON Missense_P102S,Silent exm54718 1 45479353 [T/C] NM_000374,NR_036510 UROD,UROD EXON Missense_R122W,Silent exm54719 1 45479354 [A/G] NM_000374,NR_036510 UROD,UROD EXON Missense_R122Q,Silent exm54720 1 45479372 [A/C] NM_000374,NR_036510 UROD,UROD EXON Missense_A128D,Silent exm54721 1 45479379 [T/G] NM_000374,NR_036510 UROD,UROD EXON Missense_E130D,Silent exm54722 1 45479431 [T/C] NM_000374,NR_036510 UROD,UROD EXON Missense_R148C,Silent exm2251840 1 45479709 [A/G] NM_000374,NR_036510 UROD,UROD EXON Synonymous_P201P,Silent exm54742 1 45480219 [T/C] NM_000374,NR_036510 UROD,UROD EXON Missense_R249W,Silent exm54744 1 45480232 [T/A] NM_000374,NR_036510 UROD,UROD EXON Missense_L253Q,Silent exm54753 1 45481018 [A/G] NM_000374,NR_036510 UROD,UROD EXON Missense_G318R,Silent exm54777 1 45484448 [T/C] NM_020883 ZSWIM5 EXON Missense_R1079Q exm54798 1 45500046 [A/G] NM_020883 ZSWIM5 EXON Missense_T796M exm54801 1 45500083 [T/C] NM_020883 ZSWIM5 EXON Missense_V784M exm54803 1 45500107 [T/C] NM_020883 ZSWIM5 EXON Missense_D776N exm2233462 1 45501415 [A/C] NM_020883 ZSWIM5 EXON Missense_A746S exm54805 1 45501746 [T/G] NM_020883 ZSWIM5 EXON Missense_Q707P exm54810 1 45501806 [A/C] NM_020883 ZSWIM5 EXON Missense_R687L exm2233463 1 45501938 [T/C] NM_020883 ZSWIM5 EXON Missense_H643R exm54820 1 45501951 [A/G] NM_020883 ZSWIM5 EXON Missense_P639S exm1814910 1 45501963 [T/C] NM_020883 ZSWIM5 EXON Missense_E635K exm54823 1 45504640 [T/C] NM_020883 ZSWIM5 EXON Missense_R621H exm54838 1 45509001 [T/C] NM_020883 ZSWIM5 EXON Missense_Q500R exm54846 1 45524311 [T/C] NM_020883 ZSWIM5 EXON Missense_D408N exm54851 1 45524416 [A/G] NM_020883 ZSWIM5 EXON Missense_R373W exm54865 1 45553637 [T/C] NM_020883 ZSWIM5 EXON Missense_A290T exm54870 1 45553712 [A/G] NM_020883 ZSWIM5 EXON Missense_R265C exm54871 1 45553735 [T/C] NM_020883 ZSWIM5 EXON Missense_R257H exm54885 1 45671736 [T/C] NM_020883 ZSWIM5 EXON Missense_R96H exm54887 1 45671808 [A/G] NM_020883 ZSWIM5 EXON Missense_T72M exm2265004 1 45788479 [A/G] exm54934 1 45793689 [A/G] NM_032756 HPDL EXON Missense_Q290R exm1815439 1 45793724 [T/C] NM_032756 HPDL EXON Missense_H302Y exm54938 1 45793745 [C/G] NM_032756 HPDL EXON Missense_R309G exm54941 1 45793780 [G/C] NM_032756 HPDL EXON Missense_K320N exm54942 1 45793833 [T/C] NM_032756 HPDL EXON Missense_L338P exm54952 1 45795027 [T/C] NM_001048174,NM_001128425,NM_001048171,NM_001048172,NM_012222,NM_001048173 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Missense_R506Q,Missense_R534Q,Missense_R520Q,Missense_R507Q,Missense_R531Q,Missense_R506Q exm54953 1 45795040 [A/C] NM_001048174,NM_001128425,NM_001048171,NM_001048172,NM_012222,NM_001048173 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Missense_D502Y,Missense_D530Y,Missense_D516Y,Missense_D503Y,Missense_D527Y,Missense_D502Y exm54959 1 45795084 [A/G] NM_001048174,NM_001128425,NM_001048171,NM_001048172,NM_012222,NM_001048173 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Missense_S487F,Missense_S515F,Missense_S501F,Missense_S488F,Missense_S512F,Missense_S487F exm54967 1 45796852 [A/G] NM_001048174,NM_001128425,NM_001048171,NM_001048172,NM_012222,NM_001048173 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH Silent,Silent,Silent,Silent,Silent,Silent exm1815462 1 45796912 [T/G] NM_001048174,NM_001128425,NM_001048171,NM_001048172,NM_012222,NM_001048173 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Missense_A445D,Missense_A473D,Missense_A459D,Missense_A446D,Missense_A470D,Missense_A445D exm54981 1 45797139 [A/G] NM_001048174,NM_001128425,NM_001048171,NM_001048172,NM_012222,NM_001048173 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Missense_R398C,Missense_R426C,Missense_R412C,Missense_R399C,Missense_R423C,Missense_R398C exm54983 1 45797157 [T/G] NM_001048174,NM_001128425,NM_001048171,NM_001048172,NM_012222,NM_001048173 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Missense_L392M,Missense_L420M,Missense_L406M,Missense_L393M,Missense_L417M,Missense_L392M exm54989 1 45797228 [T/C] NM_001048174,NM_001128425,NM_001048171,NM_001048172,NM_012222,NM_001048173 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Missense_G368D,Missense_G396D,Missense_G382D,Missense_G369D,Missense_G393D,Missense_G368D exm2233468 1 45797401 [A/G] NM_001048174,NM_001128425,NM_001048171,NM_001048172,NM_012222,NM_001048173 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Missense_A345V,Missense_A373V,Missense_A359V,Missense_A346V,Missense_A370V,Missense_A345V exm54991 1 45797429 [A/G] NM_001048174,NM_001128425,NM_001048171,NM_001048172,NM_012222,NM_001048173 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Missense_R336C,Missense_R364C,Missense_R350C,Missense_R337C,Missense_R361C,Missense_R336C exm54997 1 45797506 [T/C] NM_001048174,NM_001128425,NM_001048171,NM_001048172,NM_012222,NM_001048173 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Missense_Q310R,Missense_Q338R,Missense_Q324R,Missense_Q311R,Missense_Q335R,Missense_Q310R exm1815471 1 45797760 [T/C] NM_001048174,NM_001128425,NM_001048171,NM_001048172,NM_012222,NM_001048173 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH Silent,Silent,Silent,Silent,Silent,Silent exm55002 1 45797839 [T/C] NM_001048174,NM_001128425,NM_001048171,NM_001048172,NM_012222,NM_001048173 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Missense_R283K,Missense_R311K,Missense_R297K,Missense_R284K,Missense_R308K,Missense_R283K exm55003 1 45797846 [A/G] NM_001048174,NM_001128425,NM_001048171,NM_001048172,NM_012222,NM_001048173 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Missense_R281C,Missense_R309C,Missense_R295C,Missense_R282C,Missense_R306C,Missense_R281C exm55014 1 45798117 [T/C] NM_001048174,NM_001128425,NM_001048171,NM_001048172,NM_012222,NM_001048173 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Missense_R217H,Missense_R245H,Missense_R231H,Missense_R218H,Missense_R242H,Missense_R217H exm55024 1 45798269 [T/C] NM_001048174,NM_001128425,NM_001048171,NM_001048172,NM_012222,NM_001048173 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Missense_I195V,Missense_I223V,Missense_I209V,Missense_I196V,Missense_I220V,Missense_I195V exm55031 1 45798475 [T/C] NM_001048174,NM_001128425,NM_001048171,NM_001048172,NM_012222,NM_001048173 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Missense_Y151C,Missense_Y179C,Missense_Y165C,Missense_Y152C,Missense_Y176C,Missense_Y151C exm1815490 1 45800146 [T/C] NM_001048174,NM_001128425,NM_001048171,NM_001048172,NM_012222,NM_001048173 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Missense_G11D,Missense_G25D,Missense_G25D,Missense_G11D,Missense_G25D,Missense_G11D exm55053 1 45800156 [T/C] NM_001048174,NM_001128425,NM_001048171,NM_001048172,NM_012222,NM_001048173 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Missense_V8M,Missense_V22M,Missense_V22M,Missense_V8M,Missense_V22M,Missense_V8M exm1815492 1 45800167 [A/G] NM_001048174,NM_001128425,NM_001048171,NM_001048172,NM_012222,NM_001048173 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Missense_P4L,Missense_P18L,Missense_P18L,Missense_P4L,Missense_P18L,Missense_P4L exm55063 1 45806750 [G/C] NM_025077 TOE1 EXON Missense_V20L exm55064 1 45806765 [A/T] NM_025077 TOE1 EXON Missense_T25S exm55065 1 45806768 [T/G] NM_025077 TOE1 EXON Missense_S26A exm55068 1 45806798 [A/G] NM_025077 TOE1 EXON Missense_V36I exm55079 1 45807150 [T/C] NM_025077 TOE1 EXON Missense_I81T exm55083 1 45807631 [T/C] NM_025077 TOE1 EXON Missense_S115F exm55095 1 45808538 [A/G] NM_025077 TOE1 EXON Missense_R259Q exm55110 1 45808863 [A/G] NM_025077 TOE1 EXON Missense_R341H exm55114 1 45808937 [T/C] NM_025077 TOE1 EXON Missense_P366S exm55117 1 45808982 [A/G] NM_025077 TOE1 EXON Missense_E381K exm55120 1 45809001 [A/G] NM_025077 TOE1 EXON Missense_D387G exm55122 1 45809028 [A/G] NM_025077 TOE1 EXON Missense_K396R exm55128 1 45809220 [T/C] NM_025077 TOE1 EXON Missense_P460L exm55133 1 45810531 [T/C] NM_007170 TESK2 EXON Missense_Q566R exm55142 1 45810730 [A/G] NM_007170 TESK2 EXON Missense_R500W exm55145 1 45810774 [T/C] NM_007170 TESK2 EXON Missense_R485H exm55147 1 45810808 [A/G] NM_007170 TESK2 EXON Missense_R474W exm55149 1 45810865 [A/G] NM_007170 TESK2 EXON Missense_R455C exm55166 1 45811065 [T/C] NM_007170 TESK2 EXON Missense_R388Q exm55168 1 45811096 [A/G] NM_007170 TESK2 EXON Missense_R378C exm55169 1 45811107 [T/C] NM_007170 TESK2 EXON Missense_R374H exm2233471 1 45811119 [T/C] NM_007170 TESK2 EXON Missense_D370G exm55176 1 45811563 [T/C] NM_007170 TESK2 EXON Missense_Q328R exm55178 1 45811603 [A/G] NM_007170 TESK2 EXON Missense_R315C exm55180 1 45811663 [T/C] NM_007170 TESK2 EXON Missense_D295N exm55182 1 45812445 [T/C] NM_007170 TESK2 EXON Missense_G267R exm55184 1 45812691 [A/G] NM_007170 TESK2 EXON Missense_A251V exm55193 1 45813651 [T/C] NM_007170 TESK2 EXON Missense_E188K exm55194 1 45813656 [T/C] NM_007170 TESK2 EXON Missense_R186K exm55203 1 45851627 [A/G] NM_007170 TESK2 EXON Missense_M117T exm2275323 1 45887509 [A/G] NM_007170 TESK2 EXON Nonsense_R78X exm55222 1 45923364 [T/C] NM_007170 TESK2 EXON Missense_V32M exm55223 1 45923396 [T/C] NM_007170 TESK2 EXON Missense_E21G exm55224 1 45923405 [T/C] NM_007170 TESK2 EXON Missense_R18H exm55226 1 45923415 [A/G] NM_007170 TESK2 EXON Missense_R15C exm55246 1 45966012 [G/C] NM_015506 MMACHC EXON Missense_P3R exm55252 1 45966071 [T/G] NM_015506 MMACHC EXON Missense_V23F exm1815824 1 45973086 [A/C] NM_015506 MMACHC EXON Missense_T47N exm55255 1 45973124 [C/G] NM_015506 MMACHC EXON Missense_D60H exm55256 1 45973127 [T/C] NM_015506 MMACHC EXON Missense_R61W exm55257 1 45973128 [A/G] NM_015506 MMACHC EXON Missense_R61Q exm55264 1 45973923 [A/G] NM_015506 MMACHC EXON Missense_E106K exm55266 1 45973939 [A/G] NM_015506 MMACHC EXON Missense_R111Q exm2233473 1 45973941 [T/C] NM_015506 MMACHC EXON Missense_R112C exm55272 1 45974478 [G/C] NM_015506 MMACHC EXON Missense_G147A exm55273 1 45974510 [T/C] NM_015506 MMACHC EXON Missense_F158L exm55284 1 45974688 [T/A] NM_015506 MMACHC EXON Missense_E217V exm2273648 1 45974721 [T/C] NM_015506 MMACHC EXON Missense_A228V exm55301 1 45974849 [A/G] NM_015506 MMACHC EXON Missense_S271G exm55303 1 45974886 [G/C] NM_015506 MMACHC EXON Missense_X283S exm55325 1 45981416 [A/G] NM_181696,NM_002574,NM_181697,NM_001202431 PRDX1,PRDX1,PRDX1,PRDX1 EXON Missense_I57T,Missense_I57T,Missense_I57T,Missense_I57T exm55337 1 46027477 [T/C] NM_001202413,NM_006066,NM_153326,NM_001202414 AKR1A1,AKR1A1,AKR1A1,AKR1A1 EXON Missense_S4F,Missense_S4F,Missense_S4F,Missense_S4F exm55343 1 46032307 [A/G] NM_001202413,NM_006066,NM_153326,NM_001202414 AKR1A1,AKR1A1,AKR1A1,AKR1A1 EXON Missense_G51S,Missense_G51S,Missense_G51S,Missense_G51S exm55344 1 46032311 [A/G] NM_001202413,NM_006066,NM_153326,NM_001202414 AKR1A1,AKR1A1,AKR1A1,AKR1A1 EXON Missense_N52S,Missense_N52S,Missense_N52S,Missense_N52S exm55365 1 46033748 [A/G] NM_001202413,NM_006066,NM_153326,NM_001202414 AKR1A1,AKR1A1,AKR1A1,AKR1A1 EXON Missense_V151M,Missense_V151M,Missense_V151M,Missense_V151M exm55370 1 46034263 [T/G] NM_001202413,NM_006066,NM_153326,NM_001202414 AKR1A1,AKR1A1,AKR1A1,AKR1A1 EXON Missense_W220L,Missense_W220L,Missense_W220L,Missense_W220L exm2233477 1 46034272 [G/C] NM_001202413,NM_006066,NM_153326,NM_001202414 AKR1A1,AKR1A1,AKR1A1,AKR1A1 EXON Missense_P223R,Missense_P223R,Missense_P223R,Missense_P223R exm55371 1 46034301 [A/G] NM_001202413,NM_006066,NM_153326,NM_001202414 AKR1A1,AKR1A1,AKR1A1,AKR1A1 EXON Missense_V233I,Missense_V233I,Missense_V233I,Missense_V233I exm55372 1 46034329 [A/G] NM_001202413,NM_006066,NM_153326,NM_001202414 AKR1A1,AKR1A1,AKR1A1,AKR1A1 EXON Missense_G242D,Missense_G242D,Missense_G242D,Missense_G242D exm55377 1 46034652 [A/G] NM_001202413,NM_006066,NM_153326,NM_001202414 AKR1A1,AKR1A1,AKR1A1,AKR1A1 EXON Missense_R269Q,Missense_R269Q,Missense_R269Q,Missense_R269Q exm55380 1 46034879 [T/G] NM_001202413,NM_006066,NM_153326,NM_001202414 AKR1A1,AKR1A1,AKR1A1,AKR1A1 EXON Missense_R297I,Missense_R297I,Missense_R297I,Missense_R297I exm1816003 1 46034894 [T/G] NM_001202413,NM_006066,NM_153326,NM_001202414 AKR1A1,AKR1A1,AKR1A1,AKR1A1 EXON Missense_M302R,Missense_M302R,Missense_M302R,Missense_M302R exm55385 1 46035599 [T/C] NM_001202413,NM_006066,NM_153326,NM_001202414 AKR1A1,AKR1A1,AKR1A1,AKR1A1 EXON Missense_P317S,Missense_P317S,Missense_P317S,Missense_P317S exm55390 1 46035621 [T/C] NM_001202413,NM_006066,NM_153326,NM_001202414 AKR1A1,AKR1A1,AKR1A1,AKR1A1 EXON Missense_P324L,Missense_P324L,Missense_P324L,Missense_P324L exm55392 1 46049849 [G/C] NM_001195193,NM_002482,NM_152298 NASP,NASP,NASP EXON Missense_V11L,Missense_V11L,Missense_V11L exm55396 1 46056939 [A/G] NM_001195193,NM_002482,NM_152298 NASP,NASP,NASP EXON Missense_E35G,Missense_E35G,Missense_E35G exm55429 1 46073361 [T/C] NM_001195193,NM_002482,NM_152298 NASP,NASP,NASP EXON Nonsense_Q196X,Nonsense_Q260X,Silent exm55430 1 46073362 [A/G] NM_001195193,NM_002482,NM_152298 NASP,NASP,NASP EXON Missense_Q196R,Missense_Q260R,Silent exm55436 1 46073451 [A/G] NM_001195193,NM_002482,NM_152298 NASP,NASP,NASP EXON Missense_G226S,Missense_G290S,Silent exm1816065 1 46073517 [A/G] NM_001195193,NM_002482,NM_152298 NASP,NASP,NASP EXON Missense_D248N,Missense_D312N,Silent exm55462 1 46079969 [A/G] NM_001195193,NM_002482,NM_152298 NASP,NASP,NASP EXON Missense_E469K,Missense_E533K,Missense_E194K exm55468 1 46080844 [A/G] NM_001195193,NM_002482,NM_152298 NASP,NASP,NASP EXON Missense_K545R,Missense_K609R,Missense_K270R exm55469 1 46080849 [A/G] NM_001195193,NM_002482,NM_152298 NASP,NASP,NASP EXON Missense_I547V,Missense_I611V,Missense_I272V exm55473 1 46080988 [A/G] NM_001195193,NM_002482,NM_152298 NASP,NASP,NASP EXON Missense_E559K,Missense_E623K,Missense_E284K exm55481 1 46082061 [C/G] NM_001195193,NM_002482,NM_152298 NASP,NASP,NASP EXON Missense_S628C,Missense_S692C,Missense_S353C exm55486 1 46082322 [A/G] NM_001195193,NM_002482,NM_152298 NASP,NASP,NASP EXON Missense_G638S,Missense_G702S,Missense_G363S exm55493 1 46083166 [A/G] NM_001195193,NM_002482,NM_152298 NASP,NASP,NASP EXON Missense_D666G,Missense_D730G,Missense_D391G exm55498 1 46083226 [T/C] NM_001195193,NM_002482,NM_152298 NASP,NASP,NASP EXON Missense_P686L,Missense_P750L,Missense_P411L exm55517 1 46086436 [T/C] NM_001114938,NM_001190182 CCDC17,CCDC17 EXON Missense_I557V,Missense_I548V exm55518 1 46086469 [A/C] NM_001114938,NM_001190182 CCDC17,CCDC17 EXON Missense_A546S,Missense_A537S exm55527 1 46086649 [A/G] NM_001114938,NM_001190182 CCDC17,CCDC17 EXON Missense_R509C,Missense_R500C exm55532 1 46086766 [T/C] NM_001114938,NM_001190182 CCDC17,CCDC17 EXON Missense_V470I,Missense_V461I exm55536 1 46087002 [A/C] NM_001114938,NM_001190182 CCDC17,CCDC17 EXON Missense_G447W,Missense_G438W exm55539 1 46087313 [C/G] NM_001114938,NM_001190182 CCDC17,CCDC17 EXON Missense_P394R,Missense_P385R exm55551 1 46088002 [A/G] NM_001114938,NM_001190182 CCDC17,CCDC17 EXON Missense_S293L,Missense_S284L exm55565 1 46088475 [C/G] NM_001114938,NM_001190182 CCDC17,CCDC17 EXON Missense_L230V,Missense_L221V exm55567 1 46088663 [A/C] NM_001114938,NM_001190182 CCDC17,CCDC17 EXON Missense_L207W,Missense_L198W exm55573 1 46089315 [A/G] NM_001114938,NM_001190182 CCDC17,CCDC17 EXON Nonsense_Q62X,Nonsense_Q62X exm55582 1 46094034 [T/C] NM_021639 GPBP1L1 EXON Missense_S440N exm55583 1 46094037 [T/C] NM_021639 GPBP1L1 EXON Missense_R439H exm55591 1 46095294 [A/G] NM_021639 GPBP1L1 EXON Missense_P409L exm55601 1 46099220 [A/G] NM_021639 GPBP1L1 EXON Synonymous_L329L exm55605 1 46099788 [A/C] NM_021639 GPBP1L1 EXON Missense_A289S exm55606 1 46099793 [T/C] NM_021639 GPBP1L1 EXON Missense_G287D exm55607 1 46099794 [T/C] NM_021639 GPBP1L1 EXON Missense_G287S exm55616 1 46106052 [A/G] NM_021639 GPBP1L1 EXON Missense_P192S exm55617 1 46106069 [A/G] NM_021639 GPBP1L1 EXON Missense_P186L exm55627 1 46120308 [T/A] NM_021639 GPBP1L1 EXON Missense_K128N exm55628 1 46120313 [A/G] NM_021639 GPBP1L1 EXON Missense_R127W exm55642 1 46120885 [T/C] NM_021639 GPBP1L1 EXON Missense_N56S exm55643 1 46120890 [T/A] NM_021639 GPBP1L1 EXON Missense_F54L exm55656 1 46156748 [A/G] NM_016486 TMEM69 EXON Missense_R3H exm55664 1 46158981 [T/C] NM_016486 TMEM69 EXON Missense_L50F exm55672 1 46159158 [A/G] NM_016486 TMEM69 EXON Missense_V109I exm55676 1 46159201 [T/C] NM_016486 TMEM69 EXON Missense_P123L exm55685 1 46159395 [A/G] NM_016486 TMEM69 EXON Missense_T188A exm55687 1 46160124 [T/C] NM_001145349 IPP EXON Missense_H572R exm55688 1 46160173 [T/C] NM_001145349 IPP EXON Missense_E556K exm55693 1 46165780 [A/G] NM_001145349,NM_005897 IPP,IPP EXON Missense_S538F,Missense_S538F exm55699 1 46179997 [T/C] NM_001145349,NM_005897 IPP,IPP EXON Missense_N484S,Missense_N484S exm55706 1 46182597 [A/G] NM_001145349,NM_005897 IPP,IPP EXON Missense_R427C,Missense_R427C exm55722 1 46195375 [T/C] NM_001145349,NM_005897 IPP,IPP EXON Missense_K264R,Missense_K264R exm55724 1 46195420 [T/C] NM_001145349,NM_005897 IPP,IPP EXON Missense_R249H,Missense_R249H exm55725 1 46195433 [T/C] NM_001145349,NM_005897 IPP,IPP EXON Missense_D245N,Missense_D245N exm55730 1 46206577 [T/C] NM_001145349,NM_005897 IPP,IPP EXON Missense_I240M,Missense_I240M exm55734 1 46206636 [T/C] NM_001145349,NM_005897 IPP,IPP EXON Missense_E221K,Missense_E221K exm55746 1 46206878 [A/G] NM_001145349,NM_005897 IPP,IPP EXON Missense_I140T,Missense_I140T exm55750 1 46206992 [A/G] NM_001145349,NM_005897 IPP,IPP EXON Missense_I102T,Missense_I102T exm2251866 1 46212000 [A/G] NM_001145349,NM_005897 IPP,IPP EXON Synonymous_N28N,Synonymous_N28N exm2268680 1 46287869 [T/C] NM_015112 MAST2 Silent exm55782 1 46295147 [C/G] NM_015112 MAST2 EXON Missense_S121T exm55791 1 46425062 [T/C] NM_015112 MAST2 EXON Missense_R169W exm1817007 1 46474001 [A/C] NM_015112 MAST2 EXON Missense_E312D exm55806 1 46476447 [A/G] NM_015112 MAST2 EXON Missense_N342D exm55812 1 46476587 [T/G] NM_015112 MAST2 EXON Missense_D388E exm55823 1 46487710 [A/G] NM_015112 MAST2 EXON Missense_R460H exm55831 1 46488914 [G/C] NM_015112 MAST2 EXON Missense_A499P exm55842 1 46489482 [A/G] NM_015112 MAST2 EXON Missense_R537H exm55861 1 46493460 [T/G] NM_015112 MAST2 EXON Missense_I659M exm55868 1 46495139 [T/C] NM_015112 MAST2 EXON Synonymous_D740D exm55870 1 46495155 [A/G] NM_015112 MAST2 EXON Missense_E746K exm55877 1 46495813 [A/G] NM_015112 MAST2 EXON Missense_R819Q exm55886 1 46496298 [A/G] NM_015112 MAST2 EXON Missense_R858Q exm55906 1 46496777 [T/C] NM_015112 MAST2 EXON Missense_A936V exm55918 1 46496942 [A/G] NM_015112 MAST2 EXON Missense_R991Q exm55939 1 46498018 [A/G] NM_015112 MAST2 EXON Missense_R1119Q exm55940 1 46498071 [A/G] NM_015112 MAST2 EXON Missense_V1137M exm55943 1 46498287 [T/C] NM_015112 MAST2 EXON Missense_P1145L exm2251876 1 46498375 [A/G] NM_015112 MAST2 EXON Synonymous_V1174V exm55949 1 46499526 [A/G] NM_015112 MAST2 EXON Missense_K1197R exm1817147 1 46499588 [T/C] NM_015112 MAST2 EXON Missense_R1218C exm55957 1 46499771 [A/G] NM_015112 MAST2 EXON Missense_K1234R exm55958 1 46499795 [T/C] NM_015112 MAST2 EXON Missense_L1242P exm55966 1 46500251 [A/G] NM_015112 MAST2 EXON Missense_V1304M exm1817154 1 46500332 [T/C] NM_015112 MAST2 EXON Missense_R1331C exm55970 1 46500345 [A/G] NM_015112 MAST2 EXON Missense_R1335H exm55983 1 46500579 [G/C] NM_015112 MAST2 EXON Missense_A1413G exm55994 1 46500780 [T/C] NM_015112 MAST2 EXON Missense_T1480I exm56001 1 46500915 [G/C] NM_015112 MAST2 EXON Missense_P1525R exm56005 1 46500993 [A/G] NM_015112 MAST2 EXON Missense_D1551G exm1817186 1 46501287 [T/C] NM_015112 MAST2 EXON Missense_T1649I exm56016 1 46501359 [A/G] NM_015112 MAST2 EXON Missense_K1673R exm1817188 1 46501386 [A/G] NM_015112 MAST2 EXON Missense_N1682S exm56028 1 46501599 [A/G] NM_015112 MAST2 EXON Missense_R1753K exm56032 1 46501694 [T/C] NM_015112 MAST2 EXON Missense_R1785W exm56038 1 46509416 [G/C] NM_001114172,NM_003629 PIK3R3,PIK3R3 EXON Missense_Q439E,Missense_Q439E exm56039 1 46509469 [A/G] NM_001114172,NM_003629 PIK3R3,PIK3R3 EXON Missense_L421P,Missense_L421P exm56045 1 46511617 [T/C] NM_001114172,NM_003629 PIK3R3,PIK3R3 EXON Missense_K387R,Missense_K387R exm2233487 1 46511690 [T/C] NM_001114172,NM_003629 PIK3R3,PIK3R3 EXON Missense_I363V,Missense_I363V exm56049 1 46511746 [T/C] NM_001114172,NM_003629 PIK3R3,PIK3R3 EXON Missense_N344S,Missense_N344S exm56054 1 46512266 [A/G] NM_001114172,NM_003629 PIK3R3,PIK3R3 EXON Missense_R325C,Missense_R325C exm56055 1 46512289 [T/C] NM_001114172,NM_003629 PIK3R3,PIK3R3 EXON Missense_N317S,Missense_N317S exm56061 1 46521559 [T/A] NM_001114172,NM_003629 PIK3R3,PIK3R3 EXON Missense_N283K,Missense_N283K exm56068 1 46527602 [A/G] NM_001114172,NM_003629 PIK3R3,PIK3R3 EXON Nonsense_R255X,Nonsense_R255X exm56080 1 46546370 [G/C] NM_001114172,NM_003629 PIK3R3,PIK3R3 EXON Missense_M53I,Missense_M53I exm56081 1 46546408 [A/G] NM_001114172,NM_003629 PIK3R3,PIK3R3 EXON Missense_P41S,Missense_P41S exm56088 1 46646780 [A/G] NM_005727 TSPAN1 EXON Missense_M1V exm56090 1 46649918 [T/C] NM_005727 TSPAN1 EXON Missense_S38F exm56100 1 46650064 [A/G] NM_005727 TSPAN1 EXON Missense_V87M exm56102 1 46650270 [T/C] NM_005727 TSPAN1 EXON Missense_F90S exm56107 1 46650542 [A/C] NM_005727 TSPAN1 EXON Missense_T142N exm56117 1 46650945 [A/G] NM_005727 TSPAN1 EXON Missense_V215M exm56119 1 46651169 [A/G] NM_005727 TSPAN1 EXON Missense_M230I exm56139 1 46655130 [A/G] NM_017739,NM_001243766 POMGNT1,POMGNT1 EXON Missense_S632L,Silent exm56140 1 46655158 [T/C] NM_017739,NM_001243766 POMGNT1,POMGNT1 EXON Missense_M623V,Missense_M623V exm56149 1 46655585 [T/C] NM_017739,NM_001243766 POMGNT1,POMGNT1 EXON Missense_V576M,Missense_V576M exm56153 1 46655645 [T/C] NM_017739,NM_001243766 POMGNT1,POMGNT1 EXON Missense_D556N,Missense_D556N exm56170 1 46657769 [T/C] NM_017739,NM_001243766 POMGNT1,POMGNT1 Silent,Silent exm56174 1 46657799 [T/C] NM_017739,NM_001243766 POMGNT1,POMGNT1 EXON Missense_V504I,Missense_V504I exm56184 1 46658095 [A/G] NM_017739,NM_001243766 POMGNT1,POMGNT1 EXON Missense_T433M,Missense_T433M exm2251888 1 46659302 [C/G] NM_017739,NM_001243766 POMGNT1,POMGNT1 EXON Synonymous_R320R,Synonymous_R320R exm56217 1 46659986 [T/C] NM_017739,NM_001243766 POMGNT1,POMGNT1 EXON Missense_S280N,Missense_S280N exm56222 1 46660037 [T/C] NM_017739,NM_001243766 POMGNT1,POMGNT1 EXON Missense_R263H,Missense_R263H exm1817598 1 46661684 [T/C] NM_017739,NM_001243766 POMGNT1,POMGNT1 EXON Synonymous_T140T,Synonymous_T140T exm56246 1 46661749 [T/C] NM_017739,NM_001243766 POMGNT1,POMGNT1 EXON Missense_V119M,Missense_V119M exm56251 1 46662456 [T/C] NM_017739,NM_001243766 POMGNT1,POMGNT1 EXON Missense_V101I,Missense_V101I exm56256 1 46662488 [T/C] NM_017739,NM_001243766 POMGNT1,POMGNT1 EXON Missense_R90H,Missense_R90H exm56258 1 46662491 [T/C] NM_017739,NM_001243766 POMGNT1,POMGNT1 EXON Missense_R89Q,Missense_R89Q exm56263 1 46662669 [T/C] NM_017739,NM_001243766 POMGNT1,POMGNT1 EXON Missense_E70K,Missense_E70K exm56272 1 46663487 [A/C] NM_017739,NM_001243766 POMGNT1,POMGNT1 EXON Missense_D3Y,Missense_D3Y exm56276 1 46669222 [A/G] NM_001243766,NM_001013615 POMGNT1,LURAP1 EXON Silent,Missense_A42T exm56278 1 46669276 [A/C] NM_001243766,NM_001013615 POMGNT1,LURAP1 EXON Silent,Missense_M60L exm56282 1 46685443 [T/C] NM_001243766,NM_001013615 POMGNT1,LURAP1 EXON Silent,Missense_R91C exm56287 1 46685581 [A/G] NM_001243766,NM_001013615 POMGNT1,LURAP1 EXON Silent,Missense_D137N exm56293 1 46685635 [A/G] NM_001243766,NM_001013615 POMGNT1,LURAP1 EXON Silent,Missense_E155K exm56301 1 46685792 [A/G] NM_001243766,NM_001013615 POMGNT1,LURAP1 EXON Silent,Missense_Q207R exm56311 1 46714242 [A/G] NM_001142548,NM_003579 RAD54L,RAD54L EXON Missense_D21G,Missense_D21G exm56317 1 46724370 [T/C] NM_001142548,NM_003579 RAD54L,RAD54L EXON Nonsense_R75X,Nonsense_R75X exm56334 1 46726436 [A/G] NM_001142548,NM_003579 RAD54L,RAD54L EXON Missense_R172H,Missense_R172H exm56337 1 46726525 [T/C] NM_001142548,NM_003579 RAD54L,RAD54L EXON Missense_R202C,Missense_R202C exm56349 1 46726931 [A/G] NM_001142548,NM_003579 RAD54L,RAD54L Silent,Silent exm56351 1 46726951 [T/G] NM_001142548,NM_003579 RAD54L,RAD54L EXON Missense_R262L,Missense_R262L exm56352 1 46726962 [G/C] NM_001142548,NM_003579 RAD54L,RAD54L EXON Missense_V266L,Missense_V266L exm56363 1 46736339 [T/C] NM_001142548,NM_003579 RAD54L,RAD54L EXON Missense_H351Y,Missense_H351Y exm56372 1 46738397 [T/C] NM_001142548,NM_003579 RAD54L,RAD54L EXON Missense_P433L,Missense_P433L exm56377 1 46739296 [G/C] NM_001142548,NM_003579 RAD54L,RAD54L EXON Missense_G496A,Missense_G496A exm56380 1 46739409 [T/C] NM_001142548,NM_003579 RAD54L,RAD54L EXON Missense_R534C,Missense_R534C exm56381 1 46739410 [A/G] NM_001142548,NM_003579 RAD54L,RAD54L EXON Missense_R534H,Missense_R534H exm56382 1 46739416 [A/G] NM_001142548,NM_003579 RAD54L,RAD54L EXON Missense_R536Q,Missense_R536Q exm56395 1 46740279 [T/C] NM_001142548,NM_003579 RAD54L,RAD54L EXON Missense_R587W,Missense_R587W exm56407 1 46743589 [C/G] NM_001142548,NM_003579 RAD54L,RAD54L EXON Missense_S657C,Missense_S657C exm56411 1 46743781 [T/C] NM_001142548,NM_003579 RAD54L,RAD54L EXON Missense_R691W,Missense_R691W exm56412 1 46743782 [A/G] NM_001142548,NM_003579 RAD54L,RAD54L EXON Missense_R691Q,Missense_R691Q exm56414 1 46743839 [G/C] NM_001142548,NM_003579 RAD54L,RAD54L EXON Missense_T710S,Missense_T710S exm56417 1 46743923 [A/G] NM_001142548,NM_003579 RAD54L,RAD54L EXON Missense_R738H,Missense_R738H exm56429 1 46744712 [T/C] NM_006369 LRRC41 EXON Missense_R755Q exm56443 1 46746164 [T/C] NM_006369 LRRC41 EXON Missense_V609I exm56444 1 46746196 [T/C] NM_006369 LRRC41 EXON Missense_R598Q exm56448 1 46746857 [A/G] NM_006369 LRRC41 EXON Missense_P566S exm56451 1 46746931 [T/C] NM_006369 LRRC41 EXON Missense_R541H exm56467 1 46751316 [A/C] NM_006369 LRRC41 EXON Missense_G405W exm56469 1 46751333 [T/C] NM_006369 LRRC41 EXON Missense_G399D exm56471 1 46751448 [A/G] NM_006369 LRRC41 EXON Missense_P361S exm56476 1 46751556 [A/G] NM_006369 LRRC41 EXON Missense_R325W exm56482 1 46751588 [A/G] NM_006369 LRRC41 EXON Missense_P314L exm56507 1 46763957 [T/C] NM_006369 LRRC41 EXON Synonymous_K95K exm2233496 1 46768970 [A/C] NM_006369 LRRC41 EXON Missense_A9S exm56515 1 46774783 [A/G] NM_006004 UQCRH EXON Missense_E22G exm56547 1 46810530 [A/G] NR_045791,NM_199044,NR_045789,NR_045790,NM_001256128,NM_001256127 NSUN4,NSUN4,NSUN4,NSUN4,NSUN4,NSUN4 EXON Silent,Missense_T51A,Silent,Silent,Missense_T2A,Missense_T2A exm56553 1 46810763 [A/C] NR_045791,NM_199044,NR_045789,NR_045790,NM_001256128,NM_001256127 NSUN4,NSUN4,NSUN4,NSUN4,NSUN4,NSUN4 EXON Silent,Missense_N128K,Silent,Silent,Missense_N79K,Missense_N79K exm56556 1 46810797 [A/G] NR_045791,NM_199044,NR_045789,NR_045790,NM_001256128,NM_001256127 NSUN4,NSUN4,NSUN4,NSUN4,NSUN4,NSUN4 EXON Silent,Missense_S140G,Silent,Silent,Missense_S91G,Missense_S91G exm56557 1 46810815 [A/G] NR_045791,NM_199044,NR_045789,NR_045790,NM_001256128,NM_001256127 NSUN4,NSUN4,NSUN4,NSUN4,NSUN4,NSUN4 EXON Silent,Missense_R146G,Silent,Silent,Missense_R97G,Missense_R97G exm56565 1 46812747 [T/C] NR_045791,NM_199044,NR_045789,NR_045790,NM_001256128,NM_001256127 NSUN4,NSUN4,NSUN4,NSUN4,NSUN4,NSUN4 EXON Silent,Missense_R198C,Silent,Silent,Missense_R149C,Missense_R149C exm56576 1 46818641 [T/C] NR_045791,NM_199044,NR_045789,NR_045790,NM_001256128,NM_001256127 NSUN4,NSUN4,NSUN4,NSUN4,NSUN4,NSUN4 EXON Silent,Nonsense_R232X,Silent,Silent,Nonsense_R183X,Nonsense_R183X exm56578 1 46826407 [A/G] NR_045791,NM_199044,NR_045789,NR_045790,NM_001256128,NM_001256127 NSUN4,NSUN4,NSUN4,NSUN4,NSUN4,NSUN4 EXON Silent,Missense_R262H,Silent,Silent,Missense_R213H,Missense_R213H exm56581 1 46826463 [T/C] NR_045791,NM_199044,NR_045789,NR_045790,NM_001256128,NM_001256127 NSUN4,NSUN4,NSUN4,NSUN4,NSUN4,NSUN4 EXON Silent,Nonsense_R281X,Silent,Silent,Nonsense_R232X,Nonsense_R232X exm56583 1 46826501 [A/G] NR_045791,NM_199044,NR_045789,NR_045790,NM_001256128,NM_001256127 NSUN4,NSUN4,NSUN4,NSUN4,NSUN4,NSUN4 Silent,Silent,Silent,Silent,Silent,Silent exm2233497 1 46827249 [T/C] NR_045791,NM_199044,NR_045789,NR_045790,NM_001256128,NM_001256127 NSUN4,NSUN4,NSUN4,NSUN4,NSUN4,NSUN4 EXON Silent,Missense_L296F,Silent,Silent,Missense_L247F,Missense_L247F exm56587 1 46827274 [A/G] NR_045791,NM_199044,NR_045789,NR_045790,NM_001256128,NM_001256127 NSUN4,NSUN4,NSUN4,NSUN4,NSUN4,NSUN4 EXON Silent,Missense_H304R,Silent,Silent,Missense_H255R,Missense_H255R exm56589 1 46827337 [T/C] NR_045791,NM_199044,NR_045789,NR_045790,NM_001256128,NM_001256127 NSUN4,NSUN4,NSUN4,NSUN4,NSUN4,NSUN4 EXON Silent,Missense_I325T,Silent,Silent,Missense_I276T,Missense_I276T exm56596 1 46827456 [A/G] NR_045791,NM_199044,NR_045789,NR_045790,NM_001256128,NM_001256127 NSUN4,NSUN4,NSUN4,NSUN4,NSUN4,NSUN4 EXON Silent,Missense_I365V,Silent,Silent,Missense_I316V,Missense_I316V exm56616 1 46870705 [A/G] NM_001441 FAAH EXON Missense_G110E exm56619 1 46870761 [A/C] NM_001441 FAAH EXON Missense_P129T exm56636 1 46871409 [A/G] NM_001441 FAAH EXON Missense_R243H exm56643 1 46871973 [A/G] NM_001441 FAAH EXON Missense_R295Q exm56654 1 46874215 [A/G] NM_001441 FAAH EXON Missense_V346M exm56655 1 46874246 [T/C] NM_001441 FAAH EXON Missense_A356V exm56659 1 46874804 [A/G] NM_001441 FAAH EXON Missense_H370R exm56672 1 46877284 [T/G] NM_001441 FAAH EXON Synonymous_R439R exm2268681 1 46944805 [T/C] exm56710 1 46976131 [T/C] NM_147192,NM_172225 DMBX1,DMBX1 Silent,Silent exm1818319 1 46976650 [A/G] NM_147192,NM_172225 DMBX1,DMBX1 EXON Missense_R131H,Missense_R126H exm56733 1 46976865 [T/C] NM_147192,NM_172225 DMBX1,DMBX1 EXON Missense_P203S,Missense_P198S exm56734 1 46976871 [G/C] NM_147192,NM_172225 DMBX1,DMBX1 EXON Missense_A205P,Missense_A200P exm56740 1 46977775 [T/C] NM_147192,NM_172225 DMBX1,DMBX1 EXON Missense_S253F,Missense_S248F exm56751 1 46977876 [A/G] NM_147192,NM_172225 DMBX1,DMBX1 EXON Missense_E287K,Missense_E282K exm56752 1 46977885 [T/G] NM_147192,NM_172225 DMBX1,DMBX1 EXON Missense_G290C,Missense_G285C exm56753 1 46977886 [G/C] NM_147192,NM_172225 DMBX1,DMBX1 EXON Missense_G290A,Missense_G285A exm56757 1 46977907 [T/C] NM_147192,NM_172225 DMBX1,DMBX1 EXON Missense_A297V,Missense_A292V exm56760 1 46977936 [A/G] NM_147192,NM_172225 DMBX1,DMBX1 EXON Missense_V307I,Missense_V302I exm56769 1 46978132 [T/C] NM_147192,NM_172225 DMBX1,DMBX1 EXON Missense_A372V,Missense_A367V exm56794 1 47013404 [A/G] NR_038403,NM_001097611 MKNK1-AS1,KNCN EXON Silent,Missense_X102R exm2273649 1 47013413 [T/C] NR_038403,NM_001097611 MKNK1-AS1,KNCN EXON Silent,Missense_E99K exm56797 1 47013431 [A/G] NR_038403,NM_001097611 MKNK1-AS1,KNCN EXON Silent,Missense_P93S exm56807 1 47016761 [T/C] NR_038403,NM_001097611 MKNK1-AS1,KNCN EXON Silent,Missense_V43I exm56808 1 47016791 [T/C] NR_038403,NM_001097611 MKNK1-AS1,KNCN EXON Silent,Missense_V33I exm56809 1 47016800 [T/C] NR_038403,NM_001097611 MKNK1-AS1,KNCN EXON Silent,Missense_G30S exm56819 1 47024308 [T/C] NR_038403,NM_198973,NM_003684,NR_024174,NM_001135553,NR_024176 MKNK1-AS1,MKNK1,MKNK1,MKNK1,MKNK1,MKNK1 EXON Silent,Silent,Missense_R446Q,Silent,Missense_R405Q,Silent exm56826 1 47024442 [A/G] NR_038403,NM_198973,NM_003684,NR_024174,NM_001135553,NR_024176 MKNK1-AS1,MKNK1,MKNK1,MKNK1,MKNK1,MKNK1 EXON Silent,Missense_R346C,Synonymous_F401F,Silent,Synonymous_F360F,Silent exm56828 1 47024454 [A/G] NR_038403,NM_198973,NM_003684,NR_024174,NM_001135553,NR_024176 MKNK1-AS1,MKNK1,MKNK1,MKNK1,MKNK1,MKNK1 EXON Silent,Missense_P342S,Synonymous_D397D,Silent,Synonymous_D356D,Silent exm56843 1 47030774 [T/C] NR_038403,NM_198973,NM_003684,NR_024174,NM_001135553,NR_024176 MKNK1-AS1,MKNK1,MKNK1,MKNK1,MKNK1,MKNK1 EXON Silent,Missense_G195D,Missense_G236D,Silent,Missense_G195D,Silent exm2265005 1 47031340 [A/G] NR_038403,NM_198973,NM_003684,NR_024174,NM_001135553,NR_024176 MKNK1-AS1,MKNK1,MKNK1,MKNK1,MKNK1,MKNK1 Silent,Silent,Silent,Silent,Silent,Silent exm56844 1 47034125 [A/G] NR_038403,NM_198973,NM_003684,NR_024174,NM_001135553,NR_024176 MKNK1-AS1,MKNK1,MKNK1,MKNK1,MKNK1,MKNK1 EXON Silent,Missense_S180F,Missense_S221F,Silent,Missense_S180F,Silent exm56865 1 47042283 [T/C] NM_198973,NM_003684,NR_024174,NM_001135553,NR_024176 MKNK1,MKNK1,MKNK1,MKNK1,MKNK1 EXON Missense_R93Q,Missense_R93Q,Silent,Missense_R93Q,Silent exm1818502 1 47046255 [T/C] NM_198973,NM_003684,NR_024174,NM_001135553,NR_024176 MKNK1,MKNK1,MKNK1,MKNK1,MKNK1 EXON Missense_A61T,Missense_A61T,Silent,Missense_A61T,Silent exm56869 1 47046266 [T/G] NM_198973,NM_003684,NR_024174,NM_001135553,NR_024176 MKNK1,MKNK1,MKNK1,MKNK1,MKNK1 EXON Missense_E57A,Missense_E57A,Silent,Missense_E57A,Silent exm56874 1 47048933 [A/G] NM_198973,NM_003684,NR_024174,NM_001135553,NR_024176 MKNK1,MKNK1,MKNK1,MKNK1,MKNK1 EXON Missense_R35W,Missense_R35W,Silent,Missense_R35W,Silent exm56885 1 47075329 [A/G] NM_145279,NM_201403 MOB3C,MOB3C EXON Missense_X269R,Missense_X217R exm56897 1 47075769 [T/C] NM_145279,NM_201403 MOB3C,MOB3C EXON Missense_M228V,Missense_M176V exm56910 1 47078762 [T/C] NM_145279,NM_201403 MOB3C,MOB3C EXON Missense_M130V,Missense_M78V exm56915 1 47078903 [A/G] NM_145279,NM_201403 MOB3C,MOB3C EXON Missense_Y83H,Missense_Y31H exm56918 1 47078966 [G/C] NM_145279,NM_201403 MOB3C,MOB3C EXON Missense_A62P,Missense_A10P exm56922 1 47080665 [T/C] NM_145279,NM_201403 MOB3C,MOB3C EXON Missense_M28I,Silent exm56923 1 47080678 [T/C] NM_145279,NM_201403 MOB3C,MOB3C EXON Missense_R24Q,Silent exm56924 1 47080679 [A/G] NM_145279,NM_201403 MOB3C,MOB3C EXON Nonsense_R24X,Silent exm56927 1 47080741 [T/C] NM_145279,NM_201403 MOB3C,MOB3C EXON Missense_R3H,Silent exm56932 1 47101519 [T/C] NM_022745,NM_001243728,NM_001042546,NM_001256418 ATPAF1,ATPAF1,ATPAF1,ATPAF1 EXON Missense_V329I,Missense_V218I,Missense_V261I,Missense_V155I exm56947 1 47110834 [T/A] NM_022745,NM_001243728,NM_001042546,NM_001256418 ATPAF1,ATPAF1,ATPAF1,ATPAF1 EXON Missense_Q251L,Missense_Q140L,Silent,Missense_Q77L exm2273650 1 47138637 [T/C] NM_001145474 TEX38 EXON Missense_R44W exm56982 1 47138720 [T/G] NM_001145474 TEX38 EXON Missense_K71N exm56983 1 47138819 [T/G] NM_001145474 TEX38 EXON Missense_D104E exm56988 1 47139039 [T/C] NM_001145474 TEX38 EXON Missense_P178S exm56992 1 47139103 [T/C] NM_001145474 TEX38 EXON Missense_A199V exm56994 1 47139117 [A/T] NM_001145474 TEX38 EXON Missense_S204T exm57004 1 47149007 [G/C] NR_038828,NR_038827,NM_014774 EFCAB14-AS1,EFCAB14-AS1,EFCAB14 EXON Silent,Silent,Missense_R426T exm57007 1 47149056 [T/C] NR_038828,NR_038827,NM_014774 EFCAB14-AS1,EFCAB14-AS1,EFCAB14 EXON Silent,Silent,Missense_K410E exm1818768 1 47150183 [A/G] NR_038828,NR_038827,NM_014774 EFCAB14-AS1,EFCAB14-AS1,EFCAB14 EXON Silent,Silent,Missense_P389L exm57018 1 47152520 [A/G] NR_038828,NR_038827,NM_014774 EFCAB14-AS1,EFCAB14-AS1,EFCAB14 EXON Silent,Silent,Missense_L337P exm57022 1 47154131 [T/C] NR_038828,NR_038827,NM_014774 EFCAB14-AS1,EFCAB14-AS1,EFCAB14 EXON Silent,Silent,Missense_G294E exm57025 1 47154168 [A/C] NR_038828,NR_038827,NM_014774 EFCAB14-AS1,EFCAB14-AS1,EFCAB14 EXON Silent,Silent,Missense_V282L exm57029 1 47155291 [G/C] NR_038828,NR_038827,NM_014774 EFCAB14-AS1,EFCAB14-AS1,EFCAB14 EXON Silent,Silent,Missense_D255H exm57035 1 47157570 [T/G] NR_038828,NR_038827,NM_014774 EFCAB14-AS1,EFCAB14-AS1,EFCAB14 EXON Silent,Silent,Missense_L207I exm2233504 1 47173604 [T/C] NM_014774 EFCAB14 EXON Missense_I152V exm57044 1 47182101 [T/C] NM_014774 EFCAB14 EXON Missense_R67Q exm57055 1 47264766 [T/A] NM_000779,NM_001099772 CYP4B1,CYP4B1 EXON Missense_F5I,Missense_F5I exm57057 1 47264856 [T/C] NM_000779,NM_001099772 CYP4B1,CYP4B1 EXON Missense_R35W,Missense_R35W exm57064 1 47276532 [T/C] NM_000779,NM_001099772 CYP4B1,CYP4B1 EXON Missense_P78L,Missense_P78L exm57067 1 47276584 [A/T] NM_000779,NM_001099772 CYP4B1,CYP4B1 EXON Nonsense_Y95X,Nonsense_Y95X exm57068 1 47276615 [T/C] NM_000779,NM_001099772 CYP4B1,CYP4B1 EXON Missense_R106C,Missense_R106C exm57069 1 47276622 [T/G] NM_000779,NM_001099772 CYP4B1,CYP4B1 Silent,Silent exm57078 1 47278169 [A/G] NM_000779,NM_001099772 CYP4B1,CYP4B1 EXON Synonymous_G123G,Synonymous_G123G exm57079 1 47278174 [A/G] NM_000779,NM_001099772 CYP4B1,CYP4B1 EXON Missense_G125D,Missense_G125D exm57093 1 47279176 [A/G] NM_000779,NM_001099772 CYP4B1,CYP4B1 EXON Missense_R173Q,Missense_R173Q exm57103 1 47279636 [T/C] NM_000779,NM_001099772 CYP4B1,CYP4B1 EXON Missense_R225C,Missense_R226C exm2233505 1 47279688 [A/G] NM_000779,NM_001099772 CYP4B1,CYP4B1 EXON Missense_H242R,Missense_H243R exm57109 1 47279694 [A/G] NM_000779,NM_001099772 CYP4B1,CYP4B1 EXON Missense_R244H,Missense_R245H exm57110 1 47279699 [T/C] NM_000779,NM_001099772 CYP4B1,CYP4B1 EXON Missense_F246L,Missense_F247L exm57112 1 47279898 [T/C] NM_000779,NM_001099772 CYP4B1,CYP4B1 EXON Missense_R264W,Missense_R265W exm57113 1 47279899 [A/G] NM_000779,NM_001099772 CYP4B1,CYP4B1 EXON Missense_R264Q,Missense_R265Q exm57115 1 47279928 [T/C] NM_000779,NM_001099772 CYP4B1,CYP4B1 EXON Missense_R274W,Missense_R275W exm57117 1 47279947 [A/G] NM_000779,NM_001099772 CYP4B1,CYP4B1 EXON Missense_R280Q,Missense_R281Q exm57125 1 47280785 [A/G] NM_000779,NM_001099772 CYP4B1,CYP4B1 EXON Missense_A307T,Missense_A308T exm2233506 1 47280788 [A/G] NM_000779,NM_001099772 CYP4B1,CYP4B1 EXON Missense_E308K,Missense_E309K exm57127 1 47280830 [A/G] NM_000779,NM_001099772 CYP4B1,CYP4B1 EXON Missense_S322G,Missense_S323G exm57128 1 47280852 [A/C] NM_000779,NM_001099772 CYP4B1,CYP4B1 EXON Missense_Y329S,Missense_Y330S exm57129 1 47280859 [A/G] NM_000779,NM_001099772 CYP4B1,CYP4B1 EXON Missense_M331I,Missense_M332I exm57130 1 47280884 [T/C] NM_000779,NM_001099772 CYP4B1,CYP4B1 EXON Missense_R340C,Missense_R341C exm57131 1 47280903 [A/G] NM_000779,NM_001099772 CYP4B1,CYP4B1 EXON Missense_R346H,Missense_R347H exm57133 1 47280927 [T/G] NM_000779,NM_001099772 CYP4B1,CYP4B1 EXON Missense_F354C,Missense_F355C exm57137 1 47282755 [C/G] NM_000779,NM_001099772 CYP4B1,CYP4B1 EXON Missense_C369S,Missense_C370S exm57139 1 47282772 [T/C] NM_000779,NM_001099772 CYP4B1,CYP4B1 EXON Missense_R375C,Missense_R376C exm57140 1 47282773 [A/G] NM_000779,NM_001099772 CYP4B1,CYP4B1 EXON Missense_R375H,Missense_R376H exm57152 1 47283803 [A/G] NM_000779,NM_001099772 CYP4B1,CYP4B1 EXON Missense_V424I,Missense_V425I exm57155 1 47283818 [T/C] NM_000779,NM_001099772 CYP4B1,CYP4B1 EXON Missense_R429C,Missense_R430C exm57157 1 47283878 [A/G] NM_000779,NM_001099772 CYP4B1,CYP4B1 EXON Missense_G449R,Missense_G450R exm57160 1 47284367 [T/C] NM_000779,NM_001099772 CYP4B1,CYP4B1 EXON Missense_R473C,Missense_R474C exm57161 1 47284368 [A/G] NM_000779,NM_001099772 CYP4B1,CYP4B1 EXON Missense_R473H,Missense_R474H exm57163 1 47284395 [A/G] NM_000779,NM_001099772 CYP4B1,CYP4B1 EXON Missense_R482Q,Missense_R483Q exm2264832 1 47309265 [A/G] NR_002788 CYP4Z2P Silent exm57193 1 47399617 [A/C] NM_000778 CYP4A11 Silent exm57233 1 47400750 [C/G] NM_000778 CYP4A11 EXON Missense_Q238E exm57250 1 47402373 [T/C] NM_000778 CYP4A11 EXON Missense_Y158C exm57266 1 47403746 [G/C] NM_000778 CYP4A11 EXON Missense_P87A exm57267 1 47403784 [T/C] NM_000778 CYP4A11 EXON Missense_R74Q exm57293 1 47495702 [T/C] NM_178033 CYP4X1 EXON Missense_I73T exm57298 1 47498925 [T/C] NM_178033 CYP4X1 EXON Missense_A126V exm57301 1 47498961 [A/G] NM_178033 CYP4X1 EXON Missense_R138H exm57313 1 47501728 [A/C] NM_178033 CYP4X1 EXON Missense_S220R exm57317 1 47501822 [T/C] NM_178033 CYP4X1 EXON Nonsense_R252X exm57330 1 47505158 [T/C] NM_178033 CYP4X1 EXON Missense_R343W exm57337 1 47514254 [A/G] NM_178033 CYP4X1 EXON Missense_S409G exm57344 1 47515736 [T/C] NM_178033 CYP4X1 EXON Missense_H474Y exm57350 1 47533310 [T/C] NM_178134 CYP4Z1 EXON Missense_P50S exm57351 1 47533321 [A/G] NM_178134 CYP4Z1 EXON Nonsense_W53X exm57372 1 47560307 [A/G] NM_178134 CYP4Z1 EXON Missense_R281H exm57376 1 47564767 [A/G] NM_178134 CYP4Z1 EXON Missense_S293N exm2233517 1 47564798 [A/T] NM_178134 CYP4Z1 EXON Missense_D303E exm57408 1 47603188 [T/C] NM_001010969 CYP4A22 EXON Missense_R11C exm57409 1 47603256 [C/G] NM_001010969 CYP4A22 EXON Missense_K33N exm57417 1 47606470 [A/C] NM_001010969 CYP4A22 EXON Missense_L72I exm57421 1 47606567 [T/A] NM_001010969 CYP4A22 EXON Missense_Y104F exm57425 1 47607281 [T/C] NM_001010969 CYP4A22 EXON Missense_R126W exm57427 1 47607785 [A/G] NM_001010969 CYP4A22 EXON Missense_G130S exm57446 1 47609489 [T/C] NM_001010969 CYP4A22 EXON Missense_C231R exm57448 1 47609516 [A/G] NM_001010969 CYP4A22 EXON Missense_D240N exm1820433 1 47610137 [T/C] NM_001010969 CYP4A22 Silent exm57524 1 47650744 [T/C] NM_005764 PDZK1IP1 EXON Missense_V68I exm57526 1 47650768 [T/C] NM_005764 PDZK1IP1 EXON Missense_E60K exm57530 1 47653037 [T/C] NM_005764 PDZK1IP1 EXON Missense_V44I exm1820595 1 47653052 [T/C] NM_005764 PDZK1IP1 EXON Missense_V39M exm1820597 1 47653089 [T/G] NM_005764 PDZK1IP1 EXON Missense_N26K exm57533 1 47655567 [A/G] NM_005764 PDZK1IP1 EXON Missense_T13M exm1820647 1 47689696 [T/C] NM_003189 TAL1 EXON Missense_Y174C exm57556 1 47689770 [A/G] NM_003189 TAL1 EXON Synonymous_S149S exm57573 1 47716980 [T/C] NM_003035,NM_001048166 STIL,STIL EXON Missense_R1231Q,Missense_R1232Q exm57575 1 47717077 [T/C] NM_003035,NM_001048166 STIL,STIL EXON Missense_T1199A,Missense_T1200A exm57576 1 47717079 [A/G] NM_003035,NM_001048166 STIL,STIL EXON Missense_I1198T,Missense_I1199T exm57577 1 47717094 [A/G] NM_003035,NM_001048166 STIL,STIL EXON Missense_P1193L,Missense_P1194L exm2233523 1 47717238 [A/G] NM_003035,NM_001048166 STIL,STIL EXON Missense_A1145V,Missense_A1146V exm57587 1 47717245 [T/C] NM_003035,NM_001048166 STIL,STIL EXON Missense_D1143N,Missense_D1144N exm57596 1 47717505 [T/C] NM_003035,NM_001048166 STIL,STIL EXON Missense_N1056S,Missense_N1057S exm57598 1 47717529 [A/G] NM_003035,NM_001048166 STIL,STIL EXON Missense_V1048A,Missense_V1049A exm57599 1 47725974 [A/C] NM_003035,NM_001048166 STIL,STIL EXON Missense_V1022L,Missense_V1023L exm57602 1 47726087 [T/C] NM_003035,NM_001048166 STIL,STIL EXON Missense_H984R,Missense_H985R exm57604 1 47726135 [T/C] NM_003035,NM_001048166 STIL,STIL EXON Missense_H968R,Missense_H969R exm1820775 1 47735307 [T/C] NM_003035,NM_001048166 STIL,STIL EXON Missense_N872S,Missense_N872S exm57618 1 47735328 [T/G] NM_003035,NM_001048166 STIL,STIL EXON Missense_N865T,Missense_N865T exm57630 1 47737769 [T/C] NM_003035,NM_001048166 STIL,STIL EXON Missense_V788I,Missense_V788I exm57631 1 47737772 [T/C] NM_003035,NM_001048166 STIL,STIL EXON Missense_G787S,Missense_G787S exm57644 1 47746113 [T/C] NM_003035,NM_001048166 STIL,STIL EXON Missense_S673G,Missense_S673G exm57648 1 47746254 [T/C] NM_003035,NM_001048166 STIL,STIL EXON Missense_V626I,Missense_V626I exm57660 1 47746675 [G/C] NM_003035,NM_001048166 STIL,STIL EXON Missense_L485F,Missense_L485F exm57665 1 47748036 [C/G] NM_003035,NM_001048166 STIL,STIL EXON Missense_P410R,Missense_P410R exm57667 1 47748129 [A/G] NM_003035,NM_001048166 STIL,STIL EXON Missense_S379F,Missense_S379F exm57668 1 47753287 [T/C] NM_003035,NM_001048166 STIL,STIL EXON Missense_A357T,Missense_A357T exm57670 1 47753301 [T/C] NM_003035,NM_001048166 STIL,STIL EXON Missense_R352H,Missense_R352H exm57696 1 47765811 [T/C] NM_003035,NM_001048166 STIL,STIL EXON Missense_H156R,Missense_H156R exm57699 1 47767914 [A/G] NM_003035,NM_001048166 STIL,STIL EXON Missense_A86V,Missense_A86V exm57700 1 47767944 [A/G] NM_003035,NM_001048166 STIL,STIL EXON Missense_S76L,Missense_S76L exm2265006 1 47800713 [A/G] NM_001136140,NR_046394,NM_016308,NR_046395 CMPK1,CMPK1,CMPK1,CMPK1 Silent,Silent,Silent,Silent exm57717 1 47834152 [A/C] NM_001136140,NR_046394,NM_016308 CMPK1,CMPK1,CMPK1 EXON Silent,Silent,Nonsense_Y61X exm57721 1 47834209 [T/G] NM_001136140,NR_046394,NM_016308 CMPK1,CMPK1,CMPK1 EXON Silent,Silent,Missense_Q80H exm57725 1 47838627 [A/G] NM_001136140,NR_046394,NM_016308 CMPK1,CMPK1,CMPK1 EXON Missense_E58K,Silent,Missense_E107K exm57726 1 47838652 [A/G] NM_001136140,NR_046394,NM_016308 CMPK1,CMPK1,CMPK1 EXON Missense_N66S,Silent,Missense_N115S exm57776 1 47904000 [A/G] NM_004474 FOXD2 EXON Missense_A65T exm-rs517384 1 47952663 [T/G] exm2264833 1 48048060 [A/G] exm57822 1 48231630 [T/C] NM_001194986 TRABD2B EXON Missense_A500T exm57825 1 48241091 [T/G] NM_001194986 TRABD2B EXON Missense_A367E exm57828 1 48267174 [T/C] NM_001194986 TRABD2B EXON Missense_A262T exm57832 1 48459819 [A/C] NM_001194986 TRABD2B EXON Missense_V185L exm2268682 1 48672401 [T/C] exm57844 1 48688550 [A/G] NM_001135181,NM_001011547 SLC5A9,SLC5A9 EXON Missense_V48I,Missense_V48I exm57847 1 48690414 [T/C] NM_001135181,NM_001011547 SLC5A9,SLC5A9 EXON Nonsense_R61X,Nonsense_R61X exm57849 1 48694523 [T/C] NM_001135181,NM_001011547 SLC5A9,SLC5A9 EXON Missense_I79T,Missense_I79T exm57856 1 48694594 [A/G] NM_001135181,NM_001011547 SLC5A9,SLC5A9 EXON Missense_G103R,Missense_G103R exm57858 1 48694606 [A/G] NM_001135181,NM_001011547 SLC5A9,SLC5A9 EXON Missense_V107I,Missense_V107I exm57860 1 48694618 [A/G] NM_001135181,NM_001011547 SLC5A9,SLC5A9 EXON Missense_E111K,Missense_E111K exm57861 1 48694627 [A/G] NM_001135181,NM_001011547 SLC5A9,SLC5A9 Silent,Silent exm57865 1 48694997 [A/G] NM_001135181,NM_001011547 SLC5A9,SLC5A9 EXON Missense_V149I,Missense_V124I exm57869 1 48695081 [A/G] NM_001135181,NM_001011547 SLC5A9,SLC5A9 EXON Missense_V177M,Missense_V152M exm57876 1 48696362 [A/G] NM_001135181,NM_001011547 SLC5A9,SLC5A9 EXON Missense_V224I,Missense_V199I exm57878 1 48697226 [T/C] NM_001135181,NM_001011547 SLC5A9,SLC5A9 EXON Missense_M232T,Missense_M207T exm57881 1 48697256 [T/C] NM_001135181,NM_001011547 SLC5A9,SLC5A9 EXON Missense_T242M,Missense_T217M exm57882 1 48697277 [T/C] NM_001135181,NM_001011547 SLC5A9,SLC5A9 EXON Missense_A249V,Missense_A224V exm57887 1 48697656 [T/C] NM_001135181,NM_001011547 SLC5A9,SLC5A9 EXON Missense_R269W,Missense_R244W exm57891 1 48697713 [T/C] NM_001135181,NM_001011547 SLC5A9,SLC5A9 EXON Missense_R288W,Missense_R263W exm57896 1 48697733 [T/G] NM_001135181,NM_001011547 SLC5A9,SLC5A9 EXON Missense_I294M,Missense_I269M exm57900 1 48697766 [A/G] NM_001135181,NM_001011547 SLC5A9,SLC5A9 EXON Nonsense_W305X,Nonsense_W280X exm57907 1 48698069 [A/C] NM_001135181,NM_001011547 SLC5A9,SLC5A9 EXON Missense_S335R,Missense_S310R exm57919 1 48699383 [T/G] NM_001135181,NM_001011547 SLC5A9,SLC5A9 EXON Nonsense_G389X,Nonsense_G364X exm57921 1 48701424 [A/G] NM_001135181,NM_001011547 SLC5A9,SLC5A9 EXON Missense_V414M,Missense_V389M exm57930 1 48703362 [T/G] NM_001135181,NM_001011547 SLC5A9,SLC5A9 EXON Missense_V460G,Missense_V435G exm57936 1 48703478 [G/C] NM_001135181,NM_001011547 SLC5A9,SLC5A9 EXON Missense_L499V,Missense_L474V exm57939 1 48705067 [T/C] NM_001135181,NM_001011547 SLC5A9,SLC5A9 EXON Missense_A537V,Missense_A512V exm57941 1 48705078 [A/G] NM_001135181,NM_001011547 SLC5A9,SLC5A9 EXON Missense_G541R,Missense_G516R exm57946 1 48705159 [A/G] NM_001135181,NM_001011547 SLC5A9,SLC5A9 EXON Missense_I568V,Missense_I543V exm57955 1 48708202 [T/C] NM_001135181,NM_001011547 SLC5A9,SLC5A9 EXON Missense_P609L,Missense_P584L exm57957 1 48708228 [T/G] NM_001135181,NM_001011547 SLC5A9,SLC5A9 EXON Nonsense_E618X,Nonsense_E593X exm2273324 1 48713394 [T/C] NM_001135181,NM_001011547 SLC5A9,SLC5A9 EXON Silent,Silent exm57977 1 48764419 [T/C] NM_019073 SPATA6 EXON Missense_C478Y exm57986 1 48764525 [T/C] NM_019073 SPATA6 EXON Missense_G443S exm57998 1 48825355 [A/G] NM_019073 SPATA6 EXON Missense_R333W exm58002 1 48825442 [A/C] NM_019073 SPATA6 EXON Missense_V304F exm58010 1 48861025 [A/G] NM_019073 SPATA6 EXON Missense_V261A exm58011 1 48865023 [A/C] NM_019073 SPATA6 EXON Missense_H260Q exm58018 1 48865121 [T/C] NM_019073 SPATA6 EXON Missense_E228K exm58039-other 1 48877259 [A/C] NM_019073 SPATA6 EXON Synonymous_V94V exm58047 1 48918698 [C/G] NM_019073 SPATA6 EXON Missense_L53V exm2268886 1 49002721 [T/G] NM_032785 AGBL4 Silent exm58053 1 49005351 [T/C] NM_032785 AGBL4 EXON Missense_V443M exm58065 1 49052789 [T/C] NM_032785 AGBL4 EXON Missense_R385H exm58075 1 49056595 [T/C] NM_032785 AGBL4 EXON Missense_M338I exm58086 1 49119052 [T/C] NM_032785 AGBL4 EXON Missense_A266T exm58098 1 49128902 [T/C] NM_032785 AGBL4 EXON Missense_E216K exm58100 1 49128904 [T/C] NM_032785 AGBL4 EXON Missense_R215Q exm2264834 1 49133886 [A/G] NM_032785 AGBL4 Silent exm58112 1 49202095 [A/C] NM_032785,NM_024603 AGBL4,BEND5 EXON Silent,Missense_D308E exm58126 1 49224596 [T/C] NM_032785,NM_024603 AGBL4,BEND5 EXON Silent,Missense_V241M exm58131 1 49224725 [A/G] NM_032785,NM_024603 AGBL4,BEND5 EXON Silent,Missense_R198C exm2268887 1 49279412 [T/C] NM_032785 AGBL4 Silent exm-rs3127553 1 49438005 [A/G] NM_032785 AGBL4 Silent exm58145 1 49511311 [T/C] NM_032785 AGBL4 EXON Missense_S180N exm2264835 1 49589847 [A/G] NM_032785 AGBL4 Silent exm2265007 1 50416930 [A/G] NM_032785 AGBL4 Silent exm1824178 1 50572019 [T/G] NM_001144777,NM_001144776,NM_001144775 ELAVL4,ELAVL4,ELAVL4 EXON Silent,Silent,Missense_L5R exm58161 1 50610767 [A/G] NM_001144777,NM_001144776,NM_001144775,NM_021952,NM_001144774 ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4 EXON Missense_V53I,Missense_V50I,Missense_V67I,Missense_V50I,Missense_V50I exm58164 1 50642851 [A/C] NM_001144777,NM_001144776,NM_001144775,NM_021952,NM_001144774 ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4 EXON Missense_T117N,Missense_T114N,Missense_T131N,Missense_T114N,Missense_T114N exm2275447 1 50661397 [A/C] NM_001144777,NM_001144776,NM_001144775,NM_021952,NM_001144774 ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4 EXON Missense_L228I,Missense_L225I,Missense_L242I,Missense_L225I,Missense_L225I exm2268888 1 50684153 [T/C] exm-rs2055491 1 50852769 [T/C] exm2252034 1 50885075 [A/T] NM_032110 DMRTA2 EXON Synonymous_G297G exm58267 1 51061810 [A/G] NM_007051 FAF1 EXON Missense_R275W exm58279 1 51204557 [A/G] NM_007051 FAF1 EXON Missense_P177S exm58284 1 51210400 [T/G] NM_007051 FAF1 EXON Missense_K139Q exm58296 1 51323615 [T/G] NM_007051 FAF1 EXON Missense_N34H exm58306 1 51439625 [A/G] NM_001262,NM_078626 CDKN2C,CDKN2C EXON Missense_D64N,Missense_D64N exm58311 1 51439754 [T/G] NM_001262,NM_078626 CDKN2C,CDKN2C EXON Missense_L107V,Missense_L107V exm58313 1 51439785 [A/G] NM_001262,NM_078626 CDKN2C,CDKN2C EXON Missense_R117Q,Missense_R117Q exm2264837 1 51470242 [A/G] exm-rs17391905 1 51546140 [T/G] exm58328 1 51578237 [T/C] NM_001136508 C1orf185 EXON Nonsense_R40X exm58332 1 51584465 [T/C] NM_001136508 C1orf185 EXON Nonsense_Q84X exm58338 1 51613354 [A/G] NM_001136508 C1orf185 EXON Missense_G171R exm1824819 1 51753878 [A/G] NM_001144832,NM_001080494 TTC39A,TTC39A EXON Missense_S566F,Missense_S563F exm58356 1 51754619 [T/C] NM_001144832,NM_001080494 TTC39A,TTC39A EXON Missense_K505R,Missense_K502R exm58365 1 51756228 [G/C] NM_001144832,NM_001080494 TTC39A,TTC39A EXON Missense_E450Q,Missense_E447Q exm58391 1 51767399 [A/G] NM_001144832,NM_001080494 TTC39A,TTC39A EXON Missense_R304W,Missense_R301W exm58419 1 51778500 [C/G] NM_001144832,NM_001080494 TTC39A,TTC39A EXON Missense_Q92E,Missense_Q89E exm2268889 1 51804731 [T/C] NM_001144832 TTC39A Silent exm58435 1 51826853 [T/C] NM_001159969,NM_001981 EPS15,EPS15 EXON Missense_N531S,Missense_N845S exm58438 1 51826921 [T/C] NM_001159969,NM_001981 EPS15,EPS15 EXON Missense_I508M,Missense_I822M exm58448 1 51829651 [T/A] NM_001159969,NM_001981 EPS15,EPS15 EXON Missense_N435I,Missense_N749I exm58452 1 51860059 [T/C] NM_001159969,NM_001981 EPS15,EPS15 EXON Missense_D391N,Missense_D705N exm58454 1 51860112 [A/G] NM_001159969,NM_001981 EPS15,EPS15 EXON Missense_T373M,Missense_T687M exm1824888 1 51866591 [A/G] NM_001159969,NM_001981 EPS15,EPS15 EXON Synonymous_I325I,Synonymous_I639I exm58463 1 51868160 [C/G] NM_001159969,NM_001981 EPS15,EPS15 EXON Missense_G296A,Missense_G610A exm58473 1 51871587 [T/G] NM_001159969,NM_001981 EPS15,EPS15 EXON Missense_Q242P,Missense_Q556P exm58476 1 51871634 [A/C] NM_001159969,NM_001981 EPS15,EPS15 EXON Missense_N226K,Missense_N540K exm58479 1 51871731 [T/G] NM_001159969,NM_001981 EPS15,EPS15 EXON Missense_Q194P,Missense_Q508P exm58483 1 51873879 [A/C] NM_001159969,NM_001981 EPS15,EPS15 EXON Missense_S153R,Missense_S467R exm58487 1 51873956 [A/T] NM_001159969,NM_001981 EPS15,EPS15 EXON Missense_T128S,Missense_T442S exm58489 1 51873967 [A/G] NM_001159969,NM_001981 EPS15,EPS15 EXON Missense_S124L,Missense_S438L exm58506 1 51910662 [T/C] NM_001981 EPS15 EXON Missense_A285T exm58509 1 51912638 [T/C] NM_001981 EPS15 EXON Missense_H264R exm2233547 1 51912639 [A/G] NM_001981 EPS15 EXON Missense_H264Y exm58518 1 51913719 [A/G] NM_001981 EPS15 EXON Missense_T217M exm58536 1 51930938 [A/C] NM_001981 EPS15 EXON Missense_V124L exm58554 1 51984894 [T/C] NM_001981 EPS15 EXON Missense_A4T exm58579 1 52211229 [T/C] NM_148909,NR_036662,NM_148908,NM_024586,NM_148906,NM_148904,NM_148905,NM_148907 OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9 EXON Missense_P137S,Silent,Missense_P114S,Missense_P114S,Missense_P97S,Silent,Silent,Missense_P17S exm58585 1 52212387 [T/G] NM_148909,NR_036662,NM_148908,NM_024586,NM_148906,NM_148904,NM_148905,NM_148907 OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9 EXON Missense_F163L,Silent,Missense_F140L,Missense_F140L,Missense_F123L,Silent,Silent,Missense_F43L exm1824980 1 52215832 [A/G] NM_148909,NR_036662,NM_148908,NM_024586,NM_148906,NM_148904,NM_148905,NM_148907 OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9 EXON Missense_I193V,Silent,Missense_I170V,Missense_I170V,Missense_I153V,Missense_I5V,Missense_I5V,Missense_I73V exm58590 1 52221995 [T/C] NM_148909,NR_036662,NM_148908,NM_024586,NM_148906,NM_148904,NM_148905,NM_148907 OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9 EXON Silent,Silent,Silent,Nonsense_Q183X,Nonsense_Q166X,Silent,Silent,Silent exm58592 1 52222016 [A/G] NM_148909,NR_036662,NM_148908,NM_024586,NM_148906,NM_148904,NM_148905,NM_148907 OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9 EXON Silent,Silent,Silent,Missense_A190T,Missense_A173T,Silent,Silent,Silent exm58595 1 52226377 [A/G] NM_148909,NR_036662,NM_148908,NM_024586,NM_148906,NM_148904,NM_148905,NM_148907 OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9 EXON Missense_V210I,Silent,Missense_V187I,Missense_V200I,Missense_V183I,Missense_V22I,Missense_V22I,Missense_V90I exm58597 1 52226396 [T/C] NM_148909,NR_036662,NM_148908,NM_024586,NM_148906,NM_148904,NM_148905,NM_148907 OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9 EXON Missense_P216L,Silent,Missense_P193L,Missense_P206L,Missense_P189L,Missense_P28L,Missense_P28L,Missense_P96L exm58599 1 52227610 [A/G] NM_148909,NR_036662,NM_148908,NM_024586,NM_148906,NM_148904,NM_148905,NM_148907 OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9 EXON Missense_G259R,Silent,Missense_G236R,Missense_G249R,Missense_G232R,Missense_G71R,Missense_G71R,Missense_G139R exm58605 1 52231560 [T/C] NM_148909,NR_036662,NM_148908,NM_024586,NM_148906,NM_148904,NM_148905,NM_148907 OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9 EXON Missense_T292I,Silent,Missense_T269I,Missense_T282I,Missense_T265I,Missense_T104I,Missense_T104I,Missense_T172I exm58610 1 52237815 [T/C] NM_148909,NR_036662,NM_148908,NM_024586,NM_148906,NM_148904,NM_148905,NM_148907 OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9 EXON Missense_S348P,Silent,Missense_S325P,Missense_S338P,Missense_S321P,Missense_S160P,Missense_S160P,Missense_S228P exm58614 1 52238313 [T/C] NM_148909,NR_036662,NM_148908,NM_024586,NM_148906,NM_148904,NM_148905,NM_148907 OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9 EXON Missense_A373V,Silent,Missense_A350V,Missense_A363V,Missense_A346V,Missense_A185V,Missense_A185V,Missense_A253V exm58639 1 52251499 [T/A] NM_148909,NR_036662,NM_148908,NM_024586,NM_148906,NM_148904,NM_148905,NM_148907 OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9 EXON Missense_S627T,Silent,Missense_S604T,Missense_S617T,Missense_S600T,Missense_S439T,Missense_S439T,Missense_S507T exm58643 1 52252234 [A/G] NM_148909,NR_036662,NM_148908,NM_024586,NM_148906,NM_148904,NM_148905,NM_148907 OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9 EXON Missense_I659V,Silent,Missense_I636V,Missense_I649V,Missense_I632V,Missense_I471V,Missense_I471V,Missense_I539V exm58673 1 52257317 [T/A] NM_001101662,NM_001242361,NM_002525 NRD1,NRD1,NRD1 EXON Missense_T965S,Missense_T901S,Missense_T1033S exm58688 1 52260253 [A/T] NM_001101662,NM_001242361,NM_002525 NRD1,NRD1,NRD1 EXON Missense_E889V,Missense_E825V,Missense_E957V exm58691 1 52260518 [T/C] NM_001101662,NM_001242361,NM_002525 NRD1,NRD1,NRD1 EXON Missense_M871I,Missense_M807I,Missense_M939I exm58696 1 52264013 [T/C] NM_001101662,NM_001242361,NM_002525 NRD1,NRD1,NRD1 EXON Missense_G838S,Missense_G774S,Missense_G906S exm58703 1 52269601 [A/G] NM_001101662,NM_001242361,NM_002525 NRD1,NRD1,NRD1 EXON Missense_T733M,Missense_T669M,Missense_T801M exm58710 1 52275032 [T/C] NM_001101662,NM_001242361,NM_002525 NRD1,NRD1,NRD1 EXON Missense_E649K,Missense_E585K,Missense_E717K exm58715 1 52276000 [T/C] NM_001101662,NM_001242361,NM_002525 NRD1,NRD1,NRD1 EXON Missense_K619R,Missense_K555R,Missense_K687R exm58722 1 52280454 [T/C] NM_001101662,NM_001242361,NM_002525 NRD1,NRD1,NRD1 EXON Missense_G491S,Missense_G427S,Missense_G559S exm58730 1 52285516 [A/G] NM_001101662,NM_001242361,NM_002525 NRD1,NRD1,NRD1 EXON Missense_L416S,Missense_L352S,Missense_L484S exm58735 1 52290964 [A/G] NM_001101662,NM_001242361,NM_002525 NRD1,NRD1,NRD1 EXON Missense_F344S,Missense_F280S,Missense_F412S exm58744 1 52299824 [A/C] NM_001101662,NM_001242361,NM_002525 NRD1,NRD1,NRD1 EXON Missense_L244W,Missense_L180W,Missense_L312W exm58761 1 52306066 [T/A] NM_001101662,NM_001242361,NM_002525 NRD1,NRD1,NRD1 EXON Missense_E154D,Missense_E22D,Missense_E154D exm58764 1 52306086 [T/C] NM_001101662,NM_001242361,NM_002525 NRD1,NRD1,NRD1 EXON Missense_E148K,Missense_E16K,Missense_E148K exm2252067 1 52344084 [A/G] NM_001101662,NM_002525 NRD1,NRD1 EXON Synonymous_N68N,Synonymous_N68N exm58778 1 52344113 [T/C] NM_001101662,NM_002525 NRD1,NRD1 EXON Missense_T59A,Missense_T59A exm58779 1 52344122 [G/C] NM_001101662,NM_002525 NRD1,NRD1 EXON Missense_A56P,Missense_A56P exm58781 1 52344157 [A/G] NM_001101662,NM_002525 NRD1,NRD1 EXON Missense_P44L,Missense_P44L exm58789 1 52385648 [A/G] NM_002867 RAB3B EXON Missense_T204M exm58793 1 52385693 [T/C] NM_002867 RAB3B EXON Missense_D189G exm58794 1 52385700 [T/C] NM_002867 RAB3B EXON Missense_M187V exm58824 1 52492993 [A/G] NM_015913 TXNDC12 EXON Missense_T80M exm58841 1 52498721 [C/G] NM_015913,NR_046406,NR_046405,NM_138417 TXNDC12,TXNDC12,TXNDC12,KTI12 EXON Silent,Silent,Silent,Missense_P238R exm58842 1 52498728 [T/C] NM_015913,NR_046406,NR_046405,NM_138417 TXNDC12,TXNDC12,TXNDC12,KTI12 EXON Silent,Silent,Silent,Missense_E236K exm58844 1 52498733 [T/C] NM_015913,NR_046406,NR_046405,NM_138417 TXNDC12,TXNDC12,TXNDC12,KTI12 EXON Silent,Silent,Silent,Missense_G234D exm58847 1 52498818 [T/G] NM_015913,NR_046406,NR_046405,NM_138417 TXNDC12,TXNDC12,TXNDC12,KTI12 EXON Silent,Silent,Silent,Missense_P206T exm58848 1 52498836 [A/C] NM_015913,NR_046406,NR_046405,NM_138417 TXNDC12,TXNDC12,TXNDC12,KTI12 EXON Silent,Silent,Silent,Missense_S200A exm58853 1 52498861 [A/T] NM_015913,NR_046406,NR_046405,NM_138417 TXNDC12,TXNDC12,TXNDC12,KTI12 EXON Silent,Silent,Silent,Missense_D191E exm58855 1 52498868 [G/C] NM_015913,NR_046406,NR_046405,NM_138417 TXNDC12,TXNDC12,TXNDC12,KTI12 EXON Silent,Silent,Silent,Missense_T189S exm58863 1 52499058 [G/C] NM_015913,NR_046406,NR_046405,NM_138417 TXNDC12,TXNDC12,TXNDC12,KTI12 EXON Silent,Silent,Silent,Missense_P126A exm58875 1 52499217 [T/G] NM_015913,NR_046406,NR_046405,NM_138417 TXNDC12,TXNDC12,TXNDC12,KTI12 EXON Silent,Silent,Silent,Missense_H73N exm58877 1 52499253 [A/C] NM_015913,NR_046406,NR_046405,NM_138417 TXNDC12,TXNDC12,TXNDC12,KTI12 EXON Silent,Silent,Silent,Missense_A61S exm58896 1 52520704 [A/G] NM_015913,NR_046406,NR_046405 TXNDC12,TXNDC12,TXNDC12 EXON Missense_I22T,Silent,Silent exm58897 1 52520722 [C/G] NM_015913,NR_046406,NR_046405 TXNDC12,TXNDC12,TXNDC12 EXON Missense_S16T,Silent,Silent exm58898 1 52520740 [A/G] NM_015913,NR_046406,NR_046405 TXNDC12,TXNDC12,TXNDC12 EXON Missense_T10I,Silent,Silent exm58921 1 52703169 [T/C] NM_007324,NM_004799,NM_007323 ZFYVE9,ZFYVE9,ZFYVE9 EXON Missense_V27A,Missense_V27A,Missense_V27A exm58923 1 52703225 [T/C] NM_007324,NM_004799,NM_007323 ZFYVE9,ZFYVE9,ZFYVE9 EXON Missense_R46W,Missense_R46W,Missense_R46W exm58926 1 52703288 [T/C] NM_007324,NM_004799,NM_007323 ZFYVE9,ZFYVE9,ZFYVE9 EXON Missense_P67S,Missense_P67S,Missense_P67S exm58928 1 52703355 [T/C] NM_007324,NM_004799,NM_007323 ZFYVE9,ZFYVE9,ZFYVE9 EXON Missense_A89V,Missense_A89V,Missense_A89V exm58930 1 52703448 [A/G] NM_007324,NM_004799,NM_007323 ZFYVE9,ZFYVE9,ZFYVE9 EXON Missense_Y120C,Missense_Y120C,Missense_Y120C exm58933 1 52703491 [G/C] NM_007324,NM_004799,NM_007323 ZFYVE9,ZFYVE9,ZFYVE9 EXON Missense_K134N,Missense_K134N,Missense_K134N exm58940 1 52703708 [A/G] NM_007324,NM_004799,NM_007323 ZFYVE9,ZFYVE9,ZFYVE9 EXON Missense_M207V,Missense_M207V,Missense_M207V exm58941 1 52703709 [T/C] NM_007324,NM_004799,NM_007323 ZFYVE9,ZFYVE9,ZFYVE9 EXON Missense_M207T,Missense_M207T,Missense_M207T exm58947 1 52703790 [T/C] NM_007324,NM_004799,NM_007323 ZFYVE9,ZFYVE9,ZFYVE9 EXON Missense_S234F,Missense_S234F,Missense_S234F exm58954 1 52703949 [A/G] NM_007324,NM_004799,NM_007323 ZFYVE9,ZFYVE9,ZFYVE9 EXON Missense_Y287C,Missense_Y287C,Missense_Y287C exm58965 1 52704153 [A/G] NM_007324,NM_004799,NM_007323 ZFYVE9,ZFYVE9,ZFYVE9 EXON Missense_C355Y,Missense_C355Y,Missense_C355Y exm58967 1 52704159 [A/G] NM_007324,NM_004799,NM_007323 ZFYVE9,ZFYVE9,ZFYVE9 EXON Missense_R357Q,Missense_R357Q,Missense_R357Q exm58970 1 52704264 [A/G] NM_007324,NM_004799,NM_007323 ZFYVE9,ZFYVE9,ZFYVE9 EXON Missense_H392R,Missense_H392R,Missense_H392R exm58972 1 52704330 [A/C] NM_007324,NM_004799,NM_007323 ZFYVE9,ZFYVE9,ZFYVE9 EXON Missense_Q414P,Missense_Q414P,Missense_Q414P exm58974 1 52704350 [A/G] NM_007324,NM_004799,NM_007323 ZFYVE9,ZFYVE9,ZFYVE9 EXON Missense_K421E,Missense_K421E,Missense_K421E exm58980 1 52704569 [T/A] NM_007324,NM_004799,NM_007323 ZFYVE9,ZFYVE9,ZFYVE9 EXON Missense_T494S,Missense_T494S,Missense_T494S exm58987 1 52704740 [T/G] NM_007324,NM_004799,NM_007323 ZFYVE9,ZFYVE9,ZFYVE9 EXON Missense_C551G,Missense_C551G,Missense_C551G exm58989 1 52704776 [T/C] NM_007324,NM_004799,NM_007323 ZFYVE9,ZFYVE9,ZFYVE9 EXON Missense_P563S,Missense_P563S,Missense_P563S exm58990 1 52704789 [G/C] NM_007324,NM_004799,NM_007323 ZFYVE9,ZFYVE9,ZFYVE9 EXON Missense_A567G,Missense_A567G,Missense_A567G exm58996 1 52705004 [A/G] NM_007324,NM_004799,NM_007323 ZFYVE9,ZFYVE9,ZFYVE9 EXON Missense_I639V,Missense_I639V,Missense_I639V exm59002 1 52705115 [A/G] NM_007324,NM_004799,NM_007323 ZFYVE9,ZFYVE9,ZFYVE9 EXON Missense_G676S,Missense_G676S,Missense_G676S exm59020 1 52732490 [C/G] NM_007324,NM_004799 ZFYVE9,ZFYVE9 EXON Silent,Missense_H814Q exm59024 1 52734221 [A/G] NM_007324,NM_004799 ZFYVE9,ZFYVE9 EXON Missense_M789V,Missense_M848V exm59029 1 52740137 [T/C] NM_007324,NM_004799 ZFYVE9,ZFYVE9 EXON Missense_T817M,Missense_T876M exm59031 1 52740229 [T/A] NM_007324,NM_004799 ZFYVE9,ZFYVE9 EXON Missense_I848F,Missense_I907F exm59039 1 52747414 [A/G] NM_007324,NM_004799 ZFYVE9,ZFYVE9 EXON Missense_C925Y,Missense_C984Y exm59042 1 52747446 [A/G] NM_007324,NM_004799 ZFYVE9,ZFYVE9 EXON Missense_I936V,Missense_I995V exm2252081 1 52761589 [T/C] NM_007324,NM_004799 ZFYVE9,ZFYVE9 EXON Synonymous_S1032S,Synonymous_S1091S exm59050 1 52761632 [A/G] NM_007324,NM_004799 ZFYVE9,ZFYVE9 EXON Missense_I1047V,Missense_I1106V exm59051 1 52769526 [A/G] NM_007324,NM_004799 ZFYVE9,ZFYVE9 EXON Missense_V1064I,Missense_V1123I exm59056 1 52798576 [A/G] NM_007324,NM_004799 ZFYVE9,ZFYVE9 EXON Missense_N1133S,Missense_N1192S exm59061 1 52803503 [A/G] NM_007324,NM_004799 ZFYVE9,ZFYVE9 EXON Missense_E1185K,Missense_E1244K exm59067 1 52810458 [A/G] NM_007324,NM_004799 ZFYVE9,ZFYVE9 EXON Missense_D1261N,Missense_D1320N exm59101 1 52820567 [T/C] NM_032449 CC2D1B EXON Missense_G768S exm59106 1 52821115 [C/G] NM_032449 CC2D1B EXON Missense_A738P exm59107 1 52821295 [T/A] NM_032449 CC2D1B EXON Missense_F730L exm59116 1 52821892 [A/G] NM_032449 CC2D1B EXON Missense_H680Y exm1825963 1 52821952 [A/G] NM_032449 CC2D1B EXON Missense_R660C exm59122 1 52822056 [T/C] NM_032449 CC2D1B EXON Missense_R652Q exm59125 1 52822722 [A/G] NM_032449 CC2D1B EXON Missense_A616V exm59126 1 52822749 [T/C] NM_032449 CC2D1B EXON Missense_H607R exm59134 1 52823299 [A/T] NM_032449 CC2D1B EXON Missense_S557C exm2233556 1 52823340 [T/C] NM_032449 CC2D1B EXON Missense_R543Q exm59145 1 52823546 [C/G] NM_032449 CC2D1B EXON Missense_V502L exm59147 1 52823573 [C/G] NM_032449 CC2D1B EXON Missense_Q493E exm59148 1 52823579 [C/G] NM_032449 CC2D1B EXON Missense_H491D exm59163 1 52824359 [T/C] NM_032449 CC2D1B EXON Synonymous_P443P exm59175 1 52824749 [A/G] NM_032449 CC2D1B EXON Missense_R403W exm59177 1 52824767 [T/C] NM_032449 CC2D1B EXON Missense_E397K exm2252083 1 52824768 [A/G] NM_032449 CC2D1B EXON Synonymous_R396R exm59182 1 52824996 [A/G] NM_032449 CC2D1B EXON Missense_T351I exm59191 1 52825460 [C/G] NM_032449 CC2D1B EXON Missense_Q287E exm59193 1 52825463 [A/G] NM_032449 CC2D1B EXON Nonsense_R286X exm59195 1 52825483 [A/G] NM_032449 CC2D1B EXON Missense_P279L exm59202 1 52825833 [T/C] NM_032449 CC2D1B EXON Missense_A226T exm59221 1 52826729 [T/C] NM_032449 CC2D1B EXON Missense_G132S exm59224 1 52826789 [T/C] NM_032449 CC2D1B EXON Missense_V112I exm59225 1 52826803 [A/G] NM_032449 CC2D1B EXON Missense_T107M exm59228 1 52827195 [C/G] NM_032449 CC2D1B EXON Missense_A103G exm59232 1 52827241 [A/G] NM_032449 CC2D1B EXON Missense_R88W exm1826056 1 52828280 [T/C] NM_032449 CC2D1B EXON Missense_G70R exm1826059 1 52828383 [T/C] NM_032449 CC2D1B EXON Missense_M35I exm59239 1 52828384 [A/G] NM_032449 CC2D1B EXON Missense_M35T exm59240 1 52830224 [T/C] NM_032449 CC2D1B EXON Synonymous_Q23Q exm59242 1 52830241 [T/C] NM_032449 CC2D1B EXON Missense_V18M exm2260412 1 52836736 [A/G] exm59254 1 52838992 [A/G] NM_001190818,NM_004153,NM_001190819 ORC1,ORC1,ORC1 EXON Missense_M816T,Missense_M816T,Missense_M811T exm59260 1 52840559 [T/C] NM_001190818,NM_004153,NM_001190819 ORC1,ORC1,ORC1 EXON Missense_V772I,Missense_V772I,Missense_V767I exm59269 1 52841243 [T/C] NM_001190818,NM_004153,NM_001190819 ORC1,ORC1,ORC1 EXON Missense_R721Q,Missense_R721Q,Missense_R716Q exm2233559 1 52847321 [A/G] NM_001190818,NM_004153,NM_001190819 ORC1,ORC1,ORC1 EXON Missense_A709V,Missense_A709V,Missense_A704V exm59271 1 52847342 [T/C] NM_001190818,NM_004153,NM_001190819 ORC1,ORC1,ORC1 EXON Missense_D702G,Missense_D702G,Missense_D697G exm59303 1 52850899 [T/C] NM_001190818,NM_004153,NM_001190819 ORC1,ORC1,ORC1 EXON Missense_C506Y,Missense_C506Y,Missense_C501Y exm59309 1 52851539 [A/T] NM_001190818,NM_004153,NM_001190819 ORC1,ORC1,ORC1 EXON Missense_E489V,Missense_E489V,Missense_E484V exm59313 1 52851594 [T/C] NM_001190818,NM_004153,NM_001190819 ORC1,ORC1,ORC1 EXON Missense_A471T,Missense_A471T,Missense_A466T exm59314 1 52851599 [T/C] NM_001190818,NM_004153,NM_001190819 ORC1,ORC1,ORC1 EXON Missense_C469Y,Missense_C469Y,Missense_C464Y exm59315 1 52851600 [A/G] NM_001190818,NM_004153,NM_001190819 ORC1,ORC1,ORC1 EXON Missense_C469R,Missense_C469R,Missense_C464R exm59318 1 52851608 [A/G] NM_001190818,NM_004153,NM_001190819 ORC1,ORC1,ORC1 EXON Missense_T466M,Missense_T466M,Missense_T461M exm59319 1 52854114 [A/G] NM_001190818,NM_004153,NM_001190819 ORC1,ORC1,ORC1 EXON Synonymous_S461S,Synonymous_S461S,Silent exm59323 1 52854175 [A/C] NM_001190818,NM_004153,NM_001190819 ORC1,ORC1,ORC1 EXON Missense_R441M,Missense_R441M,Missense_R441M exm59324 1 52854179 [A/G] NM_001190818,NM_004153,NM_001190819 ORC1,ORC1,ORC1 EXON Missense_S440P,Missense_S440P,Missense_S440P exm59327 1 52854890 [A/G] NM_001190818,NM_004153,NM_001190819 ORC1,ORC1,ORC1 EXON Missense_R396W,Missense_R396W,Missense_R396W exm59332 1 52854961 [A/G] NM_001190818,NM_004153,NM_001190819 ORC1,ORC1,ORC1 EXON Missense_A372V,Missense_A372V,Missense_A372V exm59342 1 52859391 [A/G] NM_001190818,NM_004153,NM_001190819 ORC1,ORC1,ORC1 EXON Missense_S269L,Missense_S269L,Missense_S269L exm59344 1 52859407 [A/G] NM_001190818,NM_004153,NM_001190819 ORC1,ORC1,ORC1 EXON Missense_R264W,Missense_R264W,Missense_R264W exm59353 1 52861899 [T/G] NM_001190818,NM_004153,NM_001190819 ORC1,ORC1,ORC1 EXON Missense_Q180H,Missense_Q180H,Missense_Q180H exm1826388 1 52862002 [A/G] NM_001190818,NM_004153,NM_001190819 ORC1,ORC1,ORC1 EXON Missense_T146M,Missense_T146M,Missense_T146M exm59358 1 52863406 [A/G] NM_001190818,NM_004153,NM_001190819 ORC1,ORC1,ORC1 EXON Missense_P118L,Missense_P118L,Missense_P118L exm59360 1 52863445 [T/C] NM_001190818,NM_004153,NM_001190819 ORC1,ORC1,ORC1 EXON Missense_R105Q,Missense_R105Q,Missense_R105Q exm59371 1 52867839 [G/C] NM_001190818,NM_004153,NM_001190819 ORC1,ORC1,ORC1 EXON Missense_R19S,Missense_R19S,Missense_R19S exm2252088 1 52870544 [A/C] NM_032864 PRPF38A EXON Synonymous_G41G exm59386 1 52874253 [A/G] NM_032864 PRPF38A EXON Missense_M101I exm59399 1 52879551 [T/C] NM_032864 PRPF38A EXON Synonymous_L204L exm59401 1 52879611 [G/C] NM_032864 PRPF38A EXON Missense_R224G exm59403 1 52879623 [A/G] NM_032864 PRPF38A EXON Missense_T228A exm59426 1 52891053 [T/C] NM_015269,NM_001009881 ZCCHC11,ZCCHC11 EXON Missense_R1612Q,Missense_R1613Q exm2233563 1 52891085 [A/C] NM_015269,NM_001009881 ZCCHC11,ZCCHC11 EXON Missense_L1601F,Missense_L1602F exm59439 1 52896730 [G/C] NM_015269,NM_001009881 ZCCHC11,ZCCHC11 EXON Missense_V1555L,Missense_V1556L exm59448 1 52896964 [G/C] NM_015269,NM_001009881 ZCCHC11,ZCCHC11 EXON Missense_P1477A,Missense_P1478A exm59457 1 52901119 [T/C] NM_015269,NM_001009881 ZCCHC11,ZCCHC11 EXON Missense_N1393S,Missense_N1394S exm59458 1 52901123 [A/G] NM_015269,NM_001009881 ZCCHC11,ZCCHC11 EXON Missense_R1392C,Missense_R1393C exm59464 1 52902525 [A/G] NM_015269,NM_001009881 ZCCHC11,ZCCHC11 EXON Missense_P1354L,Missense_P1355L exm59465 1 52902540 [T/C] NM_015269,NM_001009881 ZCCHC11,ZCCHC11 EXON Missense_R1349Q,Missense_R1350Q exm59467 1 52902547 [T/C] NM_015269,NM_001009881 ZCCHC11,ZCCHC11 EXON Missense_D1347N,Missense_D1348N exm1826447 1 52911472 [A/G] NM_015269,NM_001009881 ZCCHC11,ZCCHC11 EXON Missense_I1270T,Missense_I1270T exm59497 1 52933876 [T/C] NM_015269,NM_001009881 ZCCHC11,ZCCHC11 EXON Missense_K981R,Missense_K981R exm59505 1 52940543 [A/T] NM_015269,NM_001009881 ZCCHC11,ZCCHC11 EXON Missense_L896F,Missense_L896F exm2233564 1 52940629 [T/C] NM_015269,NM_001009881 ZCCHC11,ZCCHC11 EXON Missense_D868N,Missense_D868N exm59516 1 52940845 [A/C] NM_015269,NM_001009881 ZCCHC11,ZCCHC11 EXON Missense_D796Y,Missense_D796Y exm59523 1 52941000 [T/C] NM_015269,NM_001009881 ZCCHC11,ZCCHC11 EXON Missense_N744S,Missense_N744S exm59529 1 52941198 [A/G] NM_015269,NM_001009881 ZCCHC11,ZCCHC11 EXON Missense_S678L,Missense_S678L exm59552 1 52961176 [T/C] NM_015269,NM_001009881 ZCCHC11,ZCCHC11 EXON Missense_R397G,Missense_R397G exm59569 1 52991387 [A/G] NM_015269,NM_001009881 ZCCHC11,ZCCHC11 EXON Missense_T189I,Missense_T189I exm59579 1 52991646 [T/C] NM_015269,NM_001009881 ZCCHC11,ZCCHC11 EXON Missense_N103D,Missense_N103D exm1826547 1 52991732 [T/G] NM_015269,NM_001009881 ZCCHC11,ZCCHC11 EXON Missense_K74T,Missense_K74T exm59603 1 53072530 [T/C] NM_015696 GPX7 EXON Missense_R105C exm-rs6688451 1 53086040 [T/C] exm59622 1 53099242 [A/G] NM_001042693 FAM159A EXON Missense_G26D exm59628 1 53108537 [T/C] NM_001042693 FAM159A EXON Missense_I62T exm59629 1 53108543 [G/C] NM_001042693 FAM159A EXON Missense_A64G exm59630 1 53108545 [T/C] NM_001042693 FAM159A EXON Missense_L65F exm59637 1 53108665 [T/C] NM_001042693 FAM159A EXON Nonsense_Q105X exm2252095 1 53114736 [T/C] NM_001042693 FAM159A Silent exm59647 1 53122648 [A/G] NM_001042693 FAM159A EXON Missense_D170G exm59649 1 53153432 [T/C] NM_023077 SELRC1 EXON Missense_K219R exm59650 1 53153451 [A/G] NM_023077 SELRC1 EXON Nonsense_R213X exm59665 1 53158503 [T/C] NM_023077 SELRC1 EXON Missense_R48Q exm59667 1 53158524 [A/C] NM_023077 SELRC1 EXON Missense_V41G exm59670 1 53158534 [A/G] NM_023077 SELRC1 EXON Missense_Y38H exm59702 1 53237196 [A/G] NM_024646 ZYG11B EXON Missense_R234Q exm59722 1 53250673 [A/G] NM_024646 ZYG11B EXON Missense_D406G exm59728 1 53262456 [A/G] NM_024646 ZYG11B EXON Synonymous_R495R exm2273325 1 53287305 [T/C] NM_024646 ZYG11B EXON Silent exm59754 1 53308575 [T/C] NM_001004339 ZYG11A EXON Missense_P7L exm59762 1 53320274 [T/G] NM_001004339 ZYG11A EXON Missense_E76D exm2233572 1 53322768 [T/A] NM_001004339 ZYG11A EXON Missense_I119L exm59765 1 53322784 [A/G] NM_001004339 ZYG11A EXON Missense_R124H exm59771 1 53323033 [T/C] NM_001004339 ZYG11A EXON Missense_L207P exm59779 1 53326421 [A/G] NM_001004339 ZYG11A EXON Missense_M343V exm59796 1 53347197 [G/C] NM_001004339 ZYG11A EXON Missense_L602V exm59797 1 53347210 [A/G] NM_001004339 ZYG11A EXON Missense_N606S exm59799 1 53347270 [T/A] NM_001004339 ZYG11A EXON Missense_H626L exm1827121 1 53364857 [A/G] NM_001198961,NM_018281,NM_001198962 ECHDC2,ECHDC2,ECHDC2 EXON Nonsense_R248X,Nonsense_R217X,Silent exm59819 1 53364875 [T/C] NM_001198961,NM_018281,NM_001198962 ECHDC2,ECHDC2,ECHDC2 EXON Missense_G242S,Missense_G211S,Silent exm59821 1 53364889 [A/T] NM_001198961,NM_018281,NM_001198962 ECHDC2,ECHDC2,ECHDC2 EXON Missense_I237N,Missense_I206N,Silent exm59825 1 53370340 [A/G] NM_001198961,NM_018281,NM_001198962 ECHDC2,ECHDC2,ECHDC2 EXON Missense_L227P,Missense_L196P,Missense_L196P exm59826 1 53370357 [T/G] NM_001198961,NM_018281,NM_001198962 ECHDC2,ECHDC2,ECHDC2 EXON Nonsense_Y221X,Nonsense_Y190X,Nonsense_Y190X exm59829 1 53370392 [T/C] NM_001198961,NM_018281,NM_001198962 ECHDC2,ECHDC2,ECHDC2 EXON Missense_A210T,Missense_A179T,Missense_A179T exm59836 1 53370484 [T/C] NM_001198961,NM_018281,NM_001198962 ECHDC2,ECHDC2,ECHDC2 EXON Missense_R179H,Missense_R148H,Missense_R148H exm59849 1 53373560 [T/C] NM_001198961,NM_018281,NM_001198962 ECHDC2,ECHDC2,ECHDC2 EXON Missense_R115Q,Missense_R115Q,Missense_R115Q exm59850 1 53373561 [A/G] NM_001198961,NM_018281,NM_001198962 ECHDC2,ECHDC2,ECHDC2 EXON Missense_R115W,Missense_R115W,Missense_R115W exm59856 1 53377291 [T/C] NM_001198961,NM_018281,NM_001198962 ECHDC2,ECHDC2,ECHDC2 EXON Missense_R75Q,Missense_R75Q,Missense_R75Q exm59885 1 53427197 [G/C] NM_001193617,NM_001193600,NM_001193599,NM_002979,NM_001007098 SCP2,SCP2,SCP2,SCP2,SCP2 EXON Missense_T59S,Missense_T96S,Missense_T116S,Missense_T140S,Missense_T96S exm59900 1 53444040 [T/G] NM_001193617,NM_001193600,NM_001193599,NM_002979,NM_001007098 SCP2,SCP2,SCP2,SCP2,SCP2 Silent,Silent,Silent,Silent,Silent exm59917 1 53480714 [A/G] NM_001193617,NM_001193600,NM_001193599,NM_002979,NM_001007099,NM_001007250,NM_001007100 SCP2,SCP2,SCP2,SCP2,SCP2,SCP2,SCP2 EXON Missense_S331G,Missense_S368G,Missense_S388G,Missense_S412G,Missense_S8G,Missense_S8G,Missense_R8G exm59923 1 53493685 [G/C] NM_001193617,NM_001193600,NM_001193599,NM_002979,NM_001007099,NM_001007250,NM_001007100 SCP2,SCP2,SCP2,SCP2,SCP2,SCP2,SCP2 EXON Missense_A346G,Missense_A383G,Missense_A403G,Missense_A427G,Missense_A23G,Missense_A23G,Missense_A20G exm59927 1 53513608 [T/C] NM_001193617,NM_001193600,NM_001193599,NM_002979,NM_001007099,NM_001007250,NM_001007100 SCP2,SCP2,SCP2,SCP2,SCP2,SCP2,SCP2 EXON Missense_S435L,Missense_S472L,Missense_S492L,Missense_S516L,Missense_S112L,Silent,Missense_S109L exm59937 1 53527905 [G/C] NM_153703,NM_001199080,NM_001199082,NM_001199081 PODN,PODN,PODN,PODN EXON Missense_R5P,Silent,Missense_R5P,Silent exm59946 1 53532535 [C/G] NM_153703,NM_001199080,NM_001199082,NM_001199081 PODN,PODN,PODN,PODN EXON Silent,Missense_A10P,Silent,Missense_A10P exm1827877 1 53535477 [T/C] NM_153703,NM_001199080,NM_001199082,NM_001199081 PODN,PODN,PODN,PODN EXON Missense_R32C,Missense_R13C,Missense_R32C,Missense_R13C exm59950 1 53535478 [A/G] NM_153703,NM_001199080,NM_001199082,NM_001199081 PODN,PODN,PODN,PODN EXON Missense_R32H,Missense_R13H,Missense_R32H,Missense_R13H exm59955 1 53535499 [T/C] NM_153703,NM_001199080,NM_001199082,NM_001199081 PODN,PODN,PODN,PODN EXON Missense_A39V,Missense_A20V,Missense_A39V,Missense_A20V exm59968 1 53535687 [A/C] NM_153703,NM_001199080,NM_001199082,NM_001199081 PODN,PODN,PODN,PODN EXON Missense_L102M,Missense_L83M,Missense_L102M,Missense_L83M exm59969 1 53535699 [G/C] NM_153703,NM_001199080,NM_001199082,NM_001199081 PODN,PODN,PODN,PODN EXON Missense_E106Q,Missense_E87Q,Missense_E106Q,Missense_E87Q exm59973 1 53535762 [A/G] NM_153703,NM_001199080,NM_001199082,NM_001199081 PODN,PODN,PODN,PODN EXON Missense_V127I,Missense_V108I,Missense_V127I,Missense_V108I exm2252117 1 53540321 [T/C] NM_153703,NM_001199080,NM_001199082,NM_001199081 PODN,PODN,PODN,PODN EXON Synonymous_Y198Y,Synonymous_Y179Y,Silent,Synonymous_Y179Y exm59994 1 53541538 [T/C] NM_153703,NM_001199080,NM_001199082,NM_001199081 PODN,PODN,PODN,PODN EXON Missense_T207I,Missense_T188I,Silent,Missense_T188I exm59995 1 53541549 [T/C] NM_153703,NM_001199080,NM_001199082,NM_001199081 PODN,PODN,PODN,PODN EXON Missense_R211C,Missense_R192C,Silent,Missense_R192C exm60000 1 53542915 [T/C] NM_153703,NM_001199080,NM_001199082,NM_001199081 PODN,PODN,PODN,PODN EXON Missense_M260T,Missense_M241T,Silent,Missense_M241T exm60007 1 53542998 [A/C] NM_153703,NM_001199080,NM_001199082,NM_001199081 PODN,PODN,PODN,PODN EXON Missense_L288M,Missense_L269M,Silent,Missense_L269M exm60009 1 53543382 [T/C] NM_153703,NM_001199080,NM_001199082,NM_001199081 PODN,PODN,PODN,PODN EXON Missense_P303L,Missense_P284L,Missense_P161L,Missense_P284L exm60021 1 53544108 [A/G] NM_153703,NM_001199080,NM_001199082,NM_001199081 PODN,PODN,PODN,PODN EXON Missense_R357H,Missense_R338H,Missense_R215H,Missense_R338H exm60024 1 53544152 [A/G] NM_153703,NM_001199080,NM_001199082,NM_001199081 PODN,PODN,PODN,PODN EXON Missense_V372M,Missense_V353M,Missense_V230M,Missense_V353M exm60028 1 53544219 [A/G] NM_153703,NM_001199080,NM_001199082,NM_001199081 PODN,PODN,PODN,PODN EXON Missense_R394Q,Missense_R375Q,Missense_R252Q,Missense_R375Q exm60041 1 53544449 [T/C] NM_153703,NM_001199080,NM_001199082,NM_001199081 PODN,PODN,PODN,PODN EXON Missense_R471C,Missense_R452C,Missense_R329C,Missense_R452C exm1827907 1 53544471 [A/G] NM_153703,NM_001199080,NM_001199082,NM_001199081 PODN,PODN,PODN,PODN EXON Missense_R478H,Missense_R459H,Missense_R336H,Missense_R459H exm60048 1 53544504 [A/G] NM_153703,NM_001199080,NM_001199082,NM_001199081 PODN,PODN,PODN,PODN EXON Missense_R489Q,Missense_R470Q,Missense_R347Q,Missense_R470Q exm60049 1 53544513 [T/C] NM_153703,NM_001199080,NM_001199082,NM_001199081 PODN,PODN,PODN,PODN EXON Missense_T492M,Missense_T473M,Missense_T350M,Missense_T473M exm60054 1 53544597 [T/C] NM_153703,NM_001199080,NM_001199082,NM_001199081 PODN,PODN,PODN,PODN EXON Missense_V520A,Missense_V501A,Missense_V378A,Missense_V501A exm60060 1 53544666 [A/G] NM_153703,NM_001199080,NM_001199082,NM_001199081 PODN,PODN,PODN,PODN EXON Missense_R543H,Missense_R524H,Missense_R401H,Missense_R524H exm2233578 1 53546521 [T/C] NM_153703,NM_001199080,NM_001199082,NM_001199081 PODN,PODN,PODN,PODN EXON Missense_T593M,Missense_T574M,Missense_T451M,Missense_T574M exm60089 1 53553754 [T/C] NM_006671 SLC1A7 EXON Missense_Q537R exm60090 1 53553767 [T/C] NM_006671 SLC1A7 EXON Missense_V533I exm60099 1 53554565 [T/C] NM_006671 SLC1A7 EXON Missense_R483Q exm2275448 1 53554581 [A/G] NM_006671 SLC1A7 EXON Missense_R478W exm60103 1 53554640 [T/C] NM_006671 SLC1A7 EXON Missense_R458H exm60122 1 53556422 [T/C] NM_006671 SLC1A7 EXON Missense_R363Q exm60142 1 53558391 [A/G] NM_006671 SLC1A7 EXON Missense_V289A exm60160 1 53559211 [T/C] NM_006671 SLC1A7 EXON Missense_G240D exm60161 1 53559218 [A/G] NM_006671 SLC1A7 EXON Missense_R238C exm60174 1 53569120 [T/C] NM_006671 SLC1A7 EXON Missense_A199T exm60177 1 53569179 [C/G] NM_006671 SLC1A7 EXON Missense_P179R exm60180 1 53569237 [A/G] NM_006671 SLC1A7 EXON Missense_R160C exm60188 1 53580433 [T/A] NM_006671 SLC1A7 EXON Missense_I143N exm60189 1 53580449 [T/C] NM_006671 SLC1A7 EXON Missense_A138T exm60190 1 53580452 [T/C] NM_006671 SLC1A7 EXON Missense_D137N exm60200 1 53580545 [T/C] NM_006671 SLC1A7 EXON Missense_V106M exm60205 1 53580593 [T/C] NM_006671 SLC1A7 EXON Missense_V90I exm60207 1 53580601 [T/C] NM_006671 SLC1A7 EXON Missense_R87H exm60210 1 53580635 [T/C] NM_006671 SLC1A7 EXON Missense_G76R exm60215 1 53600047 [T/C] NM_006671 SLC1A7 EXON Missense_M64V exm-rs6695567 1 53629585 [A/G] exm60233 1 53666456 [A/G] NM_000098 CPT2 EXON Missense_N73S exm60235 1 53667997 [A/C] NM_000098 CPT2 EXON Missense_K79T exm60238 1 53668063 [T/C] NM_000098 CPT2 EXON Missense_A101V exm60241 1 53668099 [T/C] NM_000098 CPT2 EXON Missense_S113L exm60245 1 53675699 [A/G] NM_000098 CPT2 EXON Missense_D118G exm1827983 1 53675711 [T/C] NM_000098 CPT2 EXON Missense_S122F exm60247 1 53675725 [A/G] NM_000098 CPT2 EXON Missense_V127I exm2252122 1 53675814 [T/C] NM_000098 CPT2 EXON Synonymous_T156T exm60252 1 53675846 [A/G] NM_000098 CPT2 EXON Missense_R167Q exm60266 1 53676196 [T/C] NM_000098 CPT2 EXON Missense_P284S exm60273 1 53676258 [T/G] NM_000098 CPT2 EXON Missense_Q304H exm60277 1 53676278 [A/G] NM_000098 CPT2 EXON Missense_N311S exm60280 1 53676371 [T/C] NM_000098 CPT2 EXON Missense_M342T exm60282 1 53676394 [T/C] NM_000098 CPT2 EXON Missense_R350C exm60283 1 53676401 [T/G] NM_000098 CPT2 EXON Missense_F352C exm60284 1 53676448 [A/G] NM_000098 CPT2 EXON Missense_V368I exm60300 1 53676718 [A/C] NM_000098 CPT2 EXON Missense_K458Q exm60305 1 53676784 [A/G] NM_000098 CPT2 EXON Missense_G480R exm60313 1 53676865 [A/G] NM_000098 CPT2 EXON Missense_V507I exm60318 1 53676944 [T/C] NM_000098 CPT2 EXON Missense_V533A exm60320 1 53676980 [A/C] NM_000098 CPT2 EXON Missense_E545A exm60324 1 53679053 [C/G] NM_000098 CPT2 EXON Missense_S588C exm60331 1 53679229 [A/G] NM_000098 CPT2 EXON Missense_M647V exm60332 1 53679231 [A/G] NM_000098 CPT2 EXON Missense_M647I exm60333 1 53679233 [T/C] NM_000098 CPT2 EXON Missense_F648S exm60339 1 53681725 [T/C] NM_017887 C1orf123 EXON Missense_G115R exm2233584 1 53684087 [A/G] NM_017887 C1orf123 EXON Synonymous_I76I exm2268687 1 53696784 [T/G] NM_002370 MAGOH Silent exm60394 1 53712727 [T/C] NM_033300,NM_017522,NM_004631,NM_001018054 LRP8,LRP8,LRP8,LRP8 EXON Missense_R782Q,Missense_R689Q,Missense_R952Q,Missense_R893Q exm60401 1 53715167 [A/G] NM_033300,NM_017522,NM_004631,NM_001018054 LRP8,LRP8,LRP8,LRP8 EXON Missense_P743L,Silent,Missense_P913L,Silent exm60403 1 53716410 [A/G] NM_033300,NM_017522,NM_004631,NM_001018054 LRP8,LRP8,LRP8,LRP8 EXON Synonymous_D706D,Synonymous_D672D,Synonymous_D876D,Synonymous_D876D exm60404 1 53716416 [A/G] NM_033300,NM_017522,NM_004631,NM_001018054 LRP8,LRP8,LRP8,LRP8 EXON Synonymous_D704D,Synonymous_D670D,Synonymous_D874D,Synonymous_D874D exm60412 1 53722932 [G/C] NM_033300,NM_017522,NM_004631,NM_001018054 LRP8,LRP8,LRP8,LRP8 EXON Missense_T635S,Silent,Missense_T805S,Missense_T805S exm2233585 1 53722952 [T/C] NM_033300,NM_017522,NM_004631,NM_001018054 LRP8,LRP8,LRP8,LRP8 EXON Synonymous_P628P,Silent,Synonymous_P798P,Synonymous_P798P exm60413 1 53722953 [A/G] NM_033300,NM_017522,NM_004631,NM_001018054 LRP8,LRP8,LRP8,LRP8 EXON Missense_P628L,Silent,Missense_P798L,Missense_P798L exm60416 1 53723042 [T/G] NM_033300,NM_017522,NM_004631,NM_001018054 LRP8,LRP8,LRP8,LRP8 EXON Synonymous_S598S,Silent,Synonymous_S768S,Synonymous_S768S exm60423 1 53723993 [T/C] NM_033300,NM_017522,NM_004631,NM_001018054 LRP8,LRP8,LRP8,LRP8 EXON Missense_R566Q,Missense_R607Q,Missense_R736Q,Missense_R736Q exm60426 1 53724026 [A/C] NM_033300,NM_017522,NM_004631,NM_001018054 LRP8,LRP8,LRP8,LRP8 EXON Missense_M555R,Missense_M596R,Missense_M725R,Missense_M725R exm2233587 1 53726194 [A/G] NM_033300,NM_017522,NM_004631,NM_001018054 LRP8,LRP8,LRP8,LRP8 EXON Synonymous_A496A,Synonymous_A537A,Synonymous_A666A,Synonymous_A666A exm2276893 1 53726226 [A/G] NM_033300,NM_017522,NM_004631,NM_001018054 LRP8,LRP8,LRP8,LRP8 EXON Missense_R486W,Missense_R527W,Missense_R656W,Missense_R656W exm60444 1 53728180 [T/C] NM_033300,NM_017522,NM_004631,NM_001018054 LRP8,LRP8,LRP8,LRP8 EXON Missense_N401S,Missense_N442S,Missense_N571S,Missense_N571S exm60445 1 53729844 [T/C] NM_033300,NM_017522,NM_004631,NM_001018054 LRP8,LRP8,LRP8,LRP8 EXON Missense_R381Q,Missense_R422Q,Missense_R551Q,Missense_R551Q exm1828090 1 53730068 [A/G] NM_033300,NM_017522,NM_004631,NM_001018054 LRP8,LRP8,LRP8,LRP8 EXON Synonymous_S306S,Synonymous_S347S,Synonymous_S476S,Synonymous_S476S exm60464 1 53732184 [T/C] NM_033300,NM_017522,NM_004631,NM_001018054 LRP8,LRP8,LRP8,LRP8 EXON Missense_R293H,Missense_R334H,Missense_R463H,Missense_R463H exm60465 1 53732215 [T/C] NM_033300,NM_017522,NM_004631,NM_001018054 LRP8,LRP8,LRP8,LRP8 EXON Missense_V283M,Missense_V324M,Missense_V453M,Missense_V453M exm60466 1 53732217 [A/G] NM_033300,NM_017522,NM_004631,NM_001018054 LRP8,LRP8,LRP8,LRP8 EXON Missense_V282A,Missense_V323A,Missense_V452A,Missense_V452A exm60470 1 53732286 [T/C] NM_033300,NM_017522,NM_004631,NM_001018054 LRP8,LRP8,LRP8,LRP8 EXON Missense_R259Q,Missense_R300Q,Missense_R429Q,Missense_R429Q exm60474 1 53736706 [A/C] NM_033300,NM_017522,NM_004631,NM_001018054 LRP8,LRP8,LRP8,LRP8 EXON Missense_A246S,Missense_A287S,Missense_A416S,Missense_A416S exm60480 1 53736959 [T/C] NM_033300,NM_017522,NM_004631,NM_001018054 LRP8,LRP8,LRP8,LRP8 EXON Missense_I186V,Missense_I227V,Missense_I356V,Missense_I356V exm1828103 1 53737015 [A/G] NM_033300,NM_017522,NM_004631,NM_001018054 LRP8,LRP8,LRP8,LRP8 EXON Missense_L167P,Missense_L208P,Missense_L337P,Missense_L337P exm60486 1 53741391 [A/G] NM_033300,NM_017522,NM_004631,NM_001018054 LRP8,LRP8,LRP8,LRP8 EXON Silent,Synonymous_C177C,Synonymous_C306C,Synonymous_C306C exm60507 1 53742723 [T/C] NM_033300,NM_017522,NM_004631,NM_001018054 LRP8,LRP8,LRP8,LRP8 EXON Silent,Silent,Missense_G175D,Missense_G175D exm60515 1 53746346 [T/G] NM_033300,NM_017522,NM_004631,NM_001018054 LRP8,LRP8,LRP8,LRP8 EXON Missense_T137P,Missense_T137P,Missense_T137P,Missense_T137P exm60526 1 53792626 [T/G] NM_033300,NM_017522,NM_004631,NM_001018054 LRP8,LRP8,LRP8,LRP8 EXON Synonymous_R55R,Synonymous_R55R,Synonymous_R55R,Synonymous_R55R exm60528 1 53792651 [A/C] NM_033300,NM_017522,NM_004631,NM_001018054 LRP8,LRP8,LRP8,LRP8 EXON Missense_D46E,Missense_D46E,Missense_D46E,Missense_D46E exm60543 1 53925247 [T/C] NM_033067 DMRTB1 EXON Missense_Y41H exm1828230 1 53927173 [A/G] NM_033067 DMRTB1 EXON Missense_R202H exm60571 1 53930352 [T/C] NM_033067 DMRTB1 EXON Missense_P265S exm60579 1 53930386 [T/C] NM_033067 DMRTB1 EXON Missense_P276L exm60593 1 53932322 [A/G] NM_033067 DMRTB1 EXON Missense_E339G exm2260425 1 53946644 [A/G] exm60604 1 53972360 [A/C] NM_147193 GLIS1 EXON Missense_G599C exm60612 1 53974837 [T/C] NM_147193 GLIS1 EXON Missense_R554Q exm60613 1 53974838 [A/G] NM_147193 GLIS1 EXON Missense_R554W exm2233592 1 53974913 [T/C] NM_147193 GLIS1 EXON Missense_D529N exm-rs6588480 1 53978119 [A/G] NM_147193 GLIS1 Silent exm60636 1 53980367 [A/G] NM_147193 GLIS1 EXON Missense_P430L exm60638 1 53980389 [T/C] NM_147193 GLIS1 EXON Missense_D423N exm60642 1 53980431 [A/G] NM_147193 GLIS1 EXON Missense_P409S exm60648 1 53986376 [A/G] NM_147193 GLIS1 EXON Missense_H378Y exm2252130 1 53986422 [A/G] NM_147193 GLIS1 EXON Synonymous_D362D exm60656 1 53990457 [T/C] NM_147193 GLIS1 EXON Missense_R354H exm60658 1 53990491 [T/C] NM_147193 GLIS1 EXON Missense_V343I exm60676 1 53995598 [A/G] NM_147193 GLIS1 EXON Missense_R275W exm60686 1 54059857 [T/C] NM_147193 GLIS1 EXON Missense_Y240C exm60687 1 54059861 [C/G] NM_147193 GLIS1 EXON Missense_R239G exm60693 1 54059956 [T/C] NM_147193 GLIS1 EXON Missense_E207G exm60704 1 54060049 [T/C] NM_147193 GLIS1 EXON Missense_G176D exm60710 1 54060109 [A/G] NM_147193 GLIS1 EXON Missense_L156P exm1828668 1 54060127 [A/G] NM_147193 GLIS1 EXON Missense_A150V exm60719 1 54060248 [T/C] NM_147193 GLIS1 EXON Missense_T110A exm60731 1 54060428 [T/C] NM_147193 GLIS1 EXON Missense_G50S exm60748 1 54238077 [A/G] NM_018087,NM_001168551,NR_033142 TMEM48,TMEM48,TMEM48 EXON Missense_T629I,Missense_T589I,Silent exm2275450 1 54252866 [A/G] NM_018087,NM_001168551,NR_033142 TMEM48,TMEM48,TMEM48 EXON Missense_P589S,Missense_P549S,Silent exm60762 1 54258913 [A/G] NM_018087,NM_001168551,NR_033142 TMEM48,TMEM48,TMEM48 EXON Missense_F542L,Missense_F502L,Silent exm60769 1 54262625 [A/G] NM_018087,NM_001168551,NR_033142 TMEM48,TMEM48,TMEM48 EXON Missense_P472L,Missense_P432L,Silent exm60772 1 54262750 [T/G] NM_018087,NM_001168551,NR_033142 TMEM48,TMEM48,TMEM48 EXON Missense_K430N,Missense_K390N,Silent exm60792 1 54273436 [T/C] NM_018087,NM_001168551,NR_033142 TMEM48,TMEM48,TMEM48 EXON Missense_S262G,Missense_S222G,Silent exm60803 1 54291506 [T/C] NM_018087,NM_001168551,NR_033142 TMEM48,TMEM48,TMEM48 EXON Missense_N187D,Missense_N147D,Silent exm60808 1 54293704 [T/G] NM_018087,NM_001168551,NR_033142 TMEM48,TMEM48,TMEM48 EXON Missense_S141R,Missense_S101R,Silent exm60812 1 54293811 [T/C] NM_018087,NM_001168551,NR_033142 TMEM48,TMEM48,TMEM48 EXON Missense_I106V,Silent,Silent exm60816 1 54298165 [A/G] NM_018087,NM_001168551,NR_033142 TMEM48,TMEM48,TMEM48 EXON Missense_A93V,Missense_A93V,Silent exm60821 1 54301186 [T/C] NM_018087,NM_001168551,NR_033142 TMEM48,TMEM48,TMEM48 EXON Missense_I55M,Missense_I55M,Silent exm2233597 1 54301224 [A/G] NM_018087,NM_001168551,NR_033142 TMEM48,TMEM48,TMEM48 EXON Missense_F43L,Missense_F43L,Silent exm60822 1 54301238 [T/A] NM_018087,NM_001168551,NR_033142 TMEM48,TMEM48,TMEM48 EXON Missense_I38N,Missense_I38N,Silent exm60823 1 54301284 [A/G] NM_018087,NM_001168551,NR_033142 TMEM48,TMEM48,TMEM48 EXON Missense_W23R,Missense_W23R,Silent exm60825 1 54303892 [C/G] NM_018087,NM_001168551,NR_033142 TMEM48,TMEM48,TMEM48 EXON Missense_D15H,Missense_D15H,Silent exm60833 1 54331901 [A/G] NM_018982,NR_036639,NR_036640 YIPF1,YIPF1,YIPF1 EXON Missense_L268P,Silent,Silent exm60834 1 54331911 [T/C] NM_018982,NR_036639,NR_036640 YIPF1,YIPF1,YIPF1 EXON Missense_I265V,Silent,Silent exm60836 1 54331941 [A/G] NM_018982,NR_036639,NR_036640 YIPF1,YIPF1,YIPF1 EXON Nonsense_R255X,Silent,Silent exm60838 1 54331973 [A/G] NM_018982,NR_036639,NR_036640 YIPF1,YIPF1,YIPF1 EXON Missense_M244T,Silent,Silent exm60840 1 54332024 [T/C] NM_018982,NR_036639,NR_036640 YIPF1,YIPF1,YIPF1 EXON Missense_R227H,Silent,Silent exm1830849 1 54332025 [A/G] NM_018982,NR_036639,NR_036640 YIPF1,YIPF1,YIPF1 EXON Missense_R227C,Silent,Silent exm2268688 1 54333594 [T/C] NM_018982,NR_036639,NR_036640 YIPF1,YIPF1,YIPF1 Silent,Silent,Silent exm60847 1 54337043 [A/G] NM_018982,NR_036639,NR_036640 YIPF1,YIPF1,YIPF1 Silent,Silent,Silent exm60849 1 54337068 [T/C] NM_018982,NR_036639,NR_036640 YIPF1,YIPF1,YIPF1 EXON Missense_H153R,Silent,Silent exm60850 1 54337074 [A/G] NM_018982,NR_036639,NR_036640 YIPF1,YIPF1,YIPF1 EXON Missense_T151M,Silent,Silent exm60870 1 54348892 [A/G] NM_018982,NR_036639,NR_036640 YIPF1,YIPF1,YIPF1 EXON Missense_I30T,Silent,Silent exm1830959 1 54348914 [T/G] NM_018982,NR_036639,NR_036640 YIPF1,YIPF1,YIPF1 EXON Missense_P23T,Silent,Silent exm60875 1 54354658 [T/G] NM_018982,NR_036639,NR_036640 YIPF1,YIPF1,YIPF1 EXON Silent,Silent,Silent exm60880 1 54359937 [A/G] NM_000792,NM_001039715,NM_001039716,NM_213593 DIO1,DIO1,DIO1,DIO1 EXON Synonymous_E18E,Synonymous_E18E,Synonymous_E18E,Synonymous_E18E exm2252151 1 54359937 [A/G] NM_000792,NM_001039715,NM_001039716,NM_213593 DIO1,DIO1,DIO1,DIO1 EXON Synonymous_E18E,Synonymous_E18E,Synonymous_E18E,Synonymous_E18E exm60885 1 54360030 [T/A] NM_000792,NM_001039715,NM_001039716,NM_213593 DIO1,DIO1,DIO1,DIO1 EXON Synonymous_G49G,Synonymous_G49G,Synonymous_G49G,Silent exm1831110 1 54360137 [T/C] NM_000792,NM_001039715,NM_001039716,NM_213593 DIO1,DIO1,DIO1,DIO1 EXON Missense_T85M,Missense_T85M,Missense_T85M,Silent exm60895 1 54360178 [T/C] NM_000792,NM_001039715,NM_001039716,NM_213593 DIO1,DIO1,DIO1,DIO1 EXON Missense_R99C,Missense_R99C,Missense_R99C,Silent exm60903 1 54371825 [A/G] NM_000792,NM_001039715,NM_001039716,NM_213593 DIO1,DIO1,DIO1,DIO1 EXON Missense_R180H,Missense_R132H,Silent,Missense_R116H exm60905 1 54371837 [T/C] NM_000792,NM_001039715,NM_001039716,NM_213593 DIO1,DIO1,DIO1,DIO1 EXON Missense_A184V,Missense_A136V,Silent,Missense_A120V exm60912 1 54375637 [A/G] NM_000792,NM_001039715,NM_001039716,NM_213593 DIO1,DIO1,DIO1,DIO1 EXON Missense_E239K,Missense_E191K,Silent,Missense_E175K exm1831396 1 54387395 [T/C] NM_016126 HSPB11 EXON Missense_A122T exm60923 1 54389583 [T/G] NM_016126 HSPB11 EXON Missense_E104D exm60933 1 54405716 [T/C] NM_016126 HSPB11 EXON Missense_E14K exm60936 1 54405745 [A/G] NM_016126 HSPB11 EXON Missense_I4T exm60944 1 54417796 [A/G] NM_052940,NM_001256409 LRRC42,LRRC42 EXON Missense_R42G,Missense_R42G exm60957 1 54418146 [T/G] NM_052940,NM_001256409 LRRC42,LRRC42 Silent,Silent exm60961 1 54423874 [A/T] NM_052940,NM_001256409 LRRC42,LRRC42 EXON Missense_T176S,Missense_T176S exm60965 1 54426146 [A/G] NM_052940,NM_001256409 LRRC42,LRRC42 EXON Synonymous_S241S,Synonymous_S241S exm2252160 1 54432019 [A/G] NM_052940,NM_001256409 LRRC42,LRRC42 EXON Synonymous_E326E,Synonymous_E326E exm60984 1 54433345 [T/G] NM_052940,NM_001256409 LRRC42,LRRC42 EXON Missense_K340N,Missense_K340N exm60986 1 54433350 [T/C] NM_052940,NM_001256409 LRRC42,LRRC42 EXON Missense_S342F,Missense_S342F exm60987 1 54433353 [T/G] NM_052940,NM_001256409 LRRC42,LRRC42 EXON Missense_R343L,Missense_R343L exm60990 1 54433454 [G/C] NM_052940,NM_001256409 LRRC42,LRRC42 EXON Missense_V377L,Missense_V377L exm60993 1 54433466 [A/G] NM_052940,NM_001256409 LRRC42,LRRC42 EXON Missense_E381K,Missense_E381K exm60994 1 54433490 [A/G] NM_052940,NM_001256409 LRRC42,LRRC42 EXON Missense_K389E,Missense_K389E exm60998 1 54433567 [T/C] NM_052940,NM_001256409 LRRC42,LRRC42 EXON Synonymous_Y414Y,Synonymous_Y414Y exm2252161 1 54433567 [T/C] NM_052940,NM_001256409 LRRC42,LRRC42 EXON Synonymous_Y414Y,Synonymous_Y414Y exm2265010 1 54439366 [A/G] exm61007 1 54474738 [T/C] NM_001276395,NM_001276394,NM_001010978,NM_001276393,NM_001276392 LDLRAD1,LDLRAD1,LDLRAD1,LDLRAD1,LDLRAD1 EXON Silent,Missense_D90N,Missense_D179N,Missense_D136N,Missense_D140N exm61009 1 54474768 [A/G] NM_001276395,NM_001276394,NM_001010978,NM_001276393,NM_001276392 LDLRAD1,LDLRAD1,LDLRAD1,LDLRAD1,LDLRAD1 EXON Silent,Missense_R80C,Missense_R169C,Missense_R126C,Missense_R130C exm61013 1 54475954 [T/C] NM_001276395,NM_001276394,NM_001010978,NM_001276393,NM_001276392 LDLRAD1,LDLRAD1,LDLRAD1,LDLRAD1,LDLRAD1 Silent,Silent,Silent,Silent,Silent exm61014 1 54475967 [A/C] NM_001276395,NM_001276394,NM_001010978,NM_001276393,NM_001276392 LDLRAD1,LDLRAD1,LDLRAD1,LDLRAD1,LDLRAD1 EXON Missense_M99I,Nonsense_E64X,Nonsense_E153X,Nonsense_E110X,Nonsense_E114X exm2275451 1 54476060 [C/G] NM_001276395,NM_001276394,NM_001010978,NM_001276393,NM_001276392 LDLRAD1,LDLRAD1,LDLRAD1,LDLRAD1,LDLRAD1 EXON Synonymous_P68P,Missense_H33D,Missense_H122D,Missense_H79D,Missense_H83D exm61019 1 54476084 [T/C] NM_001276395,NM_001276394,NM_001010978,NM_001276393,NM_001276392 LDLRAD1,LDLRAD1,LDLRAD1,LDLRAD1,LDLRAD1 Silent,Silent,Silent,Silent,Silent exm61021 1 54477834 [T/C] NM_001276395,NM_001276394,NM_001010978,NM_001276393,NM_001276392 LDLRAD1,LDLRAD1,LDLRAD1,LDLRAD1,LDLRAD1 EXON Synonymous_T54T,Silent,Missense_E108K,Missense_E65K,Missense_E69K exm61025 1 54477873 [T/C] NM_001276395,NM_001276394,NM_001010978,NM_001276393,NM_001276392 LDLRAD1,LDLRAD1,LDLRAD1,LDLRAD1,LDLRAD1 EXON Synonymous_G41G,Silent,Missense_V95I,Missense_V52I,Missense_V56I exm61030 1 54479986 [A/G] NM_001276395,NM_001276394,NM_001010978,NM_001276393,NM_001276392 LDLRAD1,LDLRAD1,LDLRAD1,LDLRAD1,LDLRAD1 EXON Silent,Silent,Missense_S42F,Silent,Silent exm61034 1 54483090 [A/C] NM_001276395,NM_001276394,NM_001010978,NM_001276393,NM_001276392 LDLRAD1,LDLRAD1,LDLRAD1,LDLRAD1,LDLRAD1 EXON Missense_G11V,Missense_G11V,Missense_G11V,Missense_G11V,Silent exm61051 1 54506486 [A/G] NM_004872 TMEM59 EXON Missense_A217V exm61055 1 54507479 [T/C] NM_004872 TMEM59 Silent exm61071 1 54511457 [A/C] NM_004872 TMEM59 EXON Missense_C100G exm61080 1 54518678 [A/G] NM_004872 TMEM59 EXON Missense_P62S exm61082 1 54518725 [A/G] NM_004872 TMEM59 EXON Missense_A46V exm61098 1 54520184 [T/C] NM_153035 TCEANC2 EXON Missense_I30T exm61101 1 54534492 [A/G] NM_153035 TCEANC2 EXON Missense_K56E exm61104 1 54554268 [A/G] NM_153035 TCEANC2 Silent exm1832305 1 54554291 [A/G] NM_153035 TCEANC2 EXON Missense_R89H exm61116 1 54562010 [C/G] NM_153035 TCEANC2 EXON Missense_S164C exm1832348 1 54562033 [T/C] NM_153035 TCEANC2 EXON Missense_R172W exm61129 1 54605242 [A/G] NM_201546 CDCP2 EXON Missense_T434M exm61131 1 54605251 [A/G] NM_201546 CDCP2 EXON Missense_L431P exm61139 1 54605311 [A/C] NM_201546 CDCP2 EXON Missense_G411V exm61147 1 54605320 [C/G] NM_201546 CDCP2 EXON Missense_P408R exm61150 1 54605326 [G/C] NM_201546 CDCP2 EXON Missense_A406G exm61166 1 54605429 [T/C] NM_201546 CDCP2 EXON Missense_G372R exm61167 1 54605432 [T/C] NM_201546 CDCP2 EXON Missense_I371V exm61169 1 54605456 [A/G] NM_201546 CDCP2 EXON Missense_R363C exm61172 1 54605528 [A/G] NM_201546 CDCP2 EXON Missense_H339Y exm61173 1 54605557 [T/G] NM_201546 CDCP2 EXON Missense_A329E exm61175 1 54605576 [T/C] NM_201546 CDCP2 EXON Missense_D323N exm61180 1 54605666 [A/G] NM_201546 CDCP2 EXON Missense_Y293H exm61183 1 54605698 [T/C] NM_201546 CDCP2 EXON Missense_R282H exm61190 1 54606804 [T/C] NM_201546 CDCP2 EXON Missense_G244R exm1832490 1 54606878 [A/C] NM_201546 CDCP2 EXON Missense_G219V exm61194 1 54606896 [T/C] NM_201546 CDCP2 EXON Missense_R213H exm61198 1 54606996 [A/G] NM_201546 CDCP2 EXON Missense_P180S exm61207 1 54610150 [T/C] NM_201546 CDCP2 EXON Missense_G139D exm61208 1 54610154 [T/C] NM_201546 CDCP2 EXON Missense_A138T exm61236 1 54640318 [T/C] NM_001031672 CYB5RL EXON Missense_T308A exm61243 1 54640430 [G/C] NM_001031672 CYB5RL EXON Missense_Q270H exm61248 1 54644859 [T/C] NM_001031672 CYB5RL EXON Missense_R236H exm61249 1 54644899 [G/C] NM_001031672 CYB5RL EXON Missense_E223Q exm61251 1 54644923 [T/G] NM_001031672 CYB5RL EXON Missense_L215M exm61257 1 54644994 [A/G] NM_001031672 CYB5RL EXON Missense_T191M exm61258 1 54649890 [T/C] NM_001031672 CYB5RL EXON Missense_G162R exm61259 1 54649913 [T/C] NM_001031672 CYB5RL EXON Missense_R154Q exm61260 1 54649930 [C/G] NM_001031672 CYB5RL EXON Missense_Q148H exm61267 1 54656446 [A/G] NM_001031672 CYB5RL EXON Missense_R108W exm61268 1 54656470 [A/G] NM_001031672 CYB5RL EXON Missense_P100S exm61274 1 54661150 [T/C] NM_001031672 CYB5RL EXON Missense_R47K exm61275 1 54661163 [A/G] NM_001031672 CYB5RL EXON Nonsense_R43X exm61280 1 54661234 [T/C] NM_001031672 CYB5RL EXON Missense_R19Q exm61283 1 54661262 [T/C] NM_001031672 CYB5RL EXON Missense_D10N exm61298 1 54666074 [T/C] NM_016491 MRPL37 EXON Missense_P53L exm61302 1 54666100 [A/G] NM_016491 MRPL37 EXON Missense_G62R exm61303 1 54666161 [A/G] NM_016491 MRPL37 EXON Missense_Y82C exm61308 1 54670724 [A/G] NM_016491 MRPL37 EXON Missense_K127R exm61311 1 54670744 [A/G] NM_016491 MRPL37 EXON Missense_E134K exm61312 1 54670784 [T/C] NM_016491 MRPL37 EXON Missense_I147T exm61319 1 54670828 [T/C] NM_016491 MRPL37 EXON Missense_R162C exm61332 1 54678184 [A/C] NM_016491 MRPL37 EXON Missense_E281D exm61340 1 54678305 [G/C] NM_016491 MRPL37 EXON Missense_L322V exm61341 1 54678317 [T/C] NM_016491 MRPL37 EXON Missense_R326W exm61342 1 54678318 [A/G] NM_016491 MRPL37 EXON Missense_R326Q exm1832550 1 54681841 [A/G] NM_016491 MRPL37 EXON Missense_V340M exm61351 1 54681920 [G/C] NM_016491 MRPL37 EXON Missense_C366S exm61421 1 54707182 [T/G] NM_001009955,NM_018070,NM_145716 SSBP3,SSBP3,SSBP3 EXON Missense_I229L,Missense_I236L,Missense_I256L exm61428 1 54708960 [T/C] NM_001009955,NM_018070,NM_145716 SSBP3,SSBP3,SSBP3 EXON Missense_G195S,Missense_G202S,Missense_G222S exm2252171 1 54718770 [T/C] NM_001009955,NM_018070,NM_145716 SSBP3,SSBP3,SSBP3 Silent,Silent,Silent exm61436 1 54722838 [T/C] NM_001009955,NM_018070,NM_145716 SSBP3,SSBP3,SSBP3 EXON Missense_A130T,Silent,Missense_A157T exm-rs1543369 1 54907935 [T/G] exm61537 1 55014013 [T/C] NM_147161,NM_015547 ACOT11,ACOT11 EXON Missense_R11W,Missense_R11W exm61541 1 55050353 [A/G] NM_147161,NM_015547 ACOT11,ACOT11 EXON Missense_R20H,Missense_R20H exm2233608 1 55050361 [T/C] NM_147161,NM_015547 ACOT11,ACOT11 EXON Missense_R23W,Missense_R23W exm61543 1 55050376 [T/C] NM_147161,NM_015547 ACOT11,ACOT11 EXON Missense_R28C,Missense_R28C exm61544 1 55050380 [T/C] NM_147161,NM_015547 ACOT11,ACOT11 EXON Missense_A29V,Missense_A29V exm61575 1 55060288 [A/G] NM_147161,NM_015547 ACOT11,ACOT11 EXON Synonymous_A177A,Synonymous_A177A exm2252187 1 55060288 [A/G] NM_147161,NM_015547 ACOT11,ACOT11 EXON Synonymous_A177A,Synonymous_A177A exm61579 1 55060362 [A/G] NM_147161,NM_015547 ACOT11,ACOT11 EXON Missense_G202D,Missense_G202D exm61584 1 55062960 [A/G] NM_147161,NM_015547 ACOT11,ACOT11 EXON Missense_M212I,Missense_M212I exm61585 1 55062965 [T/C] NM_147161,NM_015547 ACOT11,ACOT11 EXON Missense_P214L,Missense_P214L exm61591 1 55064970 [T/C] NM_147161,NM_015547 ACOT11,ACOT11 EXON Missense_R256W,Missense_R256W exm61593 1 55064980 [A/G] NM_147161,NM_015547 ACOT11,ACOT11 EXON Missense_R259H,Missense_R259H exm1833415 1 55065022 [A/G] NM_147161,NM_015547 ACOT11,ACOT11 EXON Missense_R273Q,Missense_R273Q exm1833416 1 55065042 [A/G] NM_147161,NM_015547 ACOT11,ACOT11 EXON Missense_D280N,Missense_D280N exm61608 1 55067043 [T/A] NM_147161,NM_015547 ACOT11,ACOT11 EXON Missense_D329V,Missense_D329V exm61611 1 55067086 [T/C] NM_147161,NM_015547 ACOT11,ACOT11 EXON Synonymous_G343G,Synonymous_G343G exm61614 1 55068351 [T/C] NM_147161,NM_015547 ACOT11,ACOT11 EXON Missense_R347W,Missense_R347W exm61615 1 55068354 [T/C] NM_147161,NM_015547 ACOT11,ACOT11 EXON Missense_R348W,Missense_R348W exm1833431 1 55070053 [A/C] NM_147161,NM_015547 ACOT11,ACOT11 EXON Missense_K396T,Missense_K396T exm61628 1 55070752 [T/C] NM_147161,NM_015547 ACOT11,ACOT11 EXON Missense_R414C,Missense_R414C exm61632 1 55072826 [T/C] NM_147161,NM_015547 ACOT11,ACOT11 EXON Nonsense_Q464X,Nonsense_Q464X exm61635 1 55072856 [A/G] NM_147161,NM_015547 ACOT11,ACOT11 EXON Missense_V474I,Missense_V474I exm61636 1 55072871 [T/C] NM_147161,NM_015547 ACOT11,ACOT11 EXON Missense_L479F,Missense_L479F exm61640 1 55072911 [T/C] NM_147161,NM_015547 ACOT11,ACOT11 EXON Missense_A492V,Missense_A492V exm61643 1 55073623 [A/G] NM_147161,NM_015547 ACOT11,ACOT11 EXON Missense_Y504C,Missense_Y504C exm61649 1 55073660 [A/C] NM_147161,NM_015547 ACOT11,ACOT11 EXON Missense_H516Q,Missense_H516Q exm61660 1 55074645 [T/C] NM_147161,NM_015547 ACOT11,ACOT11 EXON Nonsense_Q549X,Silent exm1833449 1 55074683 [A/C] NM_147161,NM_015547 ACOT11,ACOT11 EXON Missense_N561K,Silent exm61670 1 55074978 [T/A] NM_147161,NM_015547,NM_176782 ACOT11,ACOT11,FAM151A EXON Silent,Silent,Missense_Y574F exm61672 1 55075005 [T/C] NM_147161,NM_015547,NM_176782 ACOT11,ACOT11,FAM151A EXON Silent,Silent,Missense_R565Q exm61673 1 55075006 [A/G] NM_147161,NM_015547,NM_176782 ACOT11,ACOT11,FAM151A EXON Silent,Silent,Nonsense_R565X exm61677 1 55075062 [T/C] NM_147161,NM_015547,NM_176782 ACOT11,ACOT11,FAM151A EXON Silent,Silent,Missense_G546D exm61682 1 55075099 [G/C] NM_147161,NM_015547,NM_176782 ACOT11,ACOT11,FAM151A EXON Silent,Silent,Missense_R534G exm61684 1 55075122 [G/C] NM_147161,NM_015547,NM_176782 ACOT11,ACOT11,FAM151A EXON Silent,Silent,Missense_G526A exm61686 1 55075209 [A/G] NM_147161,NM_015547,NM_176782 ACOT11,ACOT11,FAM151A EXON Silent,Silent,Missense_M497T exm61694 1 55075341 [A/G] NM_147161,NM_015547,NM_176782 ACOT11,ACOT11,FAM151A EXON Silent,Silent,Missense_S453L exm61696 1 55075386 [T/G] NM_147161,NM_015547,NM_176782 ACOT11,ACOT11,FAM151A EXON Silent,Silent,Missense_H438P exm61700 1 55075444 [T/C] NM_147161,NM_015547,NM_176782 ACOT11,ACOT11,FAM151A EXON Silent,Silent,Missense_A419T exm61703 1 55075452 [A/G] NM_147161,NM_015547,NM_176782 ACOT11,ACOT11,FAM151A EXON Silent,Silent,Missense_A416V exm61706 1 55075516 [C/G] NM_147161,NM_015547,NM_176782 ACOT11,ACOT11,FAM151A EXON Silent,Silent,Missense_L395V exm1833464 1 55075518 [A/G] NM_147161,NM_015547,NM_176782 ACOT11,ACOT11,FAM151A EXON Silent,Silent,Missense_T394M exm61723 1 55076145 [G/C] NM_015547,NM_176782 ACOT11,FAM151A EXON Silent,Missense_V342L exm61724 1 55076154 [T/C] NM_015547,NM_176782 ACOT11,FAM151A EXON Silent,Missense_G339S exm61730 1 55076166 [G/C] NM_015547,NM_176782 ACOT11,FAM151A EXON Silent,Missense_P335A exm61736 1 55077278 [T/C] NM_015547,NM_176782 ACOT11,FAM151A Silent,Silent exm61738 1 55077354 [A/G] NM_015547,NM_176782 ACOT11,FAM151A EXON Silent,Missense_R289W exm1833481 1 55077377 [A/G] NM_015547,NM_176782 ACOT11,FAM151A EXON Silent,Missense_S281L exm61750 1 55078262 [T/C] NM_015547,NM_176782 ACOT11,FAM151A EXON Silent,Missense_E233K exm61753 1 55078310 [T/G] NM_015547,NM_176782 ACOT11,FAM151A EXON Silent,Missense_T217P exm61762 1 55080475 [T/C] NM_015547,NM_176782 ACOT11,FAM151A EXON Silent,Missense_R158Q exm61769 1 55081762 [T/G] NM_015547,NM_176782 ACOT11,FAM151A EXON Silent,Missense_P116T exm61776 1 55081840 [T/C] NM_015547,NM_176782 ACOT11,FAM151A EXON Silent,Missense_I90V exm61779 1 55085537 [T/C] NM_015547,NM_176782 ACOT11,FAM151A EXON Silent,Missense_S88G exm61782 1 55085562 [C/G] NM_015547,NM_176782 ACOT11,FAM151A EXON Silent,Missense_K79N exm61788 1 55085608 [T/C] NM_015547,NM_176782 ACOT11,FAM151A EXON Silent,Missense_R64Q exm61826 1 55118790 [C/G] NR_037639,NR_037641,NR_037640,NM_001039464,NR_026782 HEATR8-TTC4,HEATR8-TTC4,HEATR8-TTC4,MROH7,MROH7 EXON Silent,Silent,Silent,Missense_S64C,Silent exm61827 1 55118832 [A/G] NR_037639,NR_037641,NR_037640,NM_001039464,NR_026782 HEATR8-TTC4,HEATR8-TTC4,HEATR8-TTC4,MROH7,MROH7 EXON Silent,Silent,Silent,Missense_E78G,Silent exm1833673 1 55118861 [A/G] NR_037639,NR_037641,NR_037640,NM_001039464,NR_026782 HEATR8-TTC4,HEATR8-TTC4,HEATR8-TTC4,MROH7,MROH7 EXON Silent,Silent,Silent,Missense_A88T,Silent exm61837 1 55118982 [T/C] NR_037639,NR_037641,NR_037640,NM_001039464,NR_026782 HEATR8-TTC4,HEATR8-TTC4,HEATR8-TTC4,MROH7,MROH7 EXON Silent,Silent,Silent,Missense_I128T,Silent exm61841 1 55119144 [A/G] NR_037639,NR_037641,NR_037640,NM_001039464,NR_026782 HEATR8-TTC4,HEATR8-TTC4,HEATR8-TTC4,MROH7,MROH7 EXON Silent,Silent,Silent,Missense_H182R,Silent exm61847 1 55119410 [A/G] NR_037639,NR_037641,NR_037640,NM_001039464,NR_026782 HEATR8-TTC4,HEATR8-TTC4,HEATR8-TTC4,MROH7,MROH7 EXON Silent,Silent,Silent,Missense_S271G,Silent exm61852 1 55119467 [A/G] NR_037639,NR_037641,NR_037640,NM_001039464,NR_026782 HEATR8-TTC4,HEATR8-TTC4,HEATR8-TTC4,MROH7,MROH7 EXON Silent,Silent,Silent,Missense_V290M,Silent exm61854 1 55119515 [T/G] NR_037639,NR_037641,NR_037640,NM_001039464,NR_026782 HEATR8-TTC4,HEATR8-TTC4,HEATR8-TTC4,MROH7,MROH7 EXON Silent,Silent,Silent,Missense_Y306D,Silent exm61855 1 55119534 [T/C] NR_037639,NR_037641,NR_037640,NM_001039464,NR_026782 HEATR8-TTC4,HEATR8-TTC4,HEATR8-TTC4,MROH7,MROH7 EXON Silent,Silent,Silent,Missense_S312F,Silent exm61856 1 55119546 [A/G] NR_037639,NR_037641,NR_037640,NM_001039464,NR_026782 HEATR8-TTC4,HEATR8-TTC4,HEATR8-TTC4,MROH7,MROH7 EXON Silent,Silent,Silent,Missense_E316G,Silent exm61862 1 55119654 [T/C] NR_037639,NR_037641,NR_037640,NM_001039464,NR_026782 HEATR8-TTC4,HEATR8-TTC4,HEATR8-TTC4,MROH7,MROH7 EXON Silent,Silent,Silent,Missense_T352M,Silent exm61866 1 55119693 [T/C] NR_037639,NR_037641,NR_037640,NM_001039464,NR_026782 HEATR8-TTC4,HEATR8-TTC4,HEATR8-TTC4,MROH7,MROH7 EXON Silent,Silent,Silent,Missense_I365T,Silent exm61867 1 55119702 [T/C] NR_037639,NR_037641,NR_037640,NM_001039464,NR_026782 HEATR8-TTC4,HEATR8-TTC4,HEATR8-TTC4,MROH7,MROH7 EXON Silent,Silent,Silent,Missense_V368A,Silent exm61870 1 55119787 [A/C] NR_037639,NR_037641,NR_037640,NM_001039464,NR_026782 HEATR8-TTC4,HEATR8-TTC4,HEATR8-TTC4,MROH7,MROH7 EXON Silent,Silent,Silent,Missense_N396K,Silent exm61879 1 55134536 [T/G] NR_037639,NR_037641,NR_037640,NM_001039464,NR_026782 HEATR8-TTC4,HEATR8-TTC4,HEATR8-TTC4,MROH7,MROH7 EXON Silent,Silent,Silent,Missense_V439F,Silent exm61882 1 55134585 [A/G] NR_037639,NR_037641,NR_037640,NM_001039464,NR_026782 HEATR8-TTC4,HEATR8-TTC4,HEATR8-TTC4,MROH7,MROH7 EXON Silent,Silent,Silent,Missense_K455R,Silent exm61885 1 55136188 [T/C] NR_037639,NR_037641,NR_037640,NM_001039464,NR_026782 HEATR8-TTC4,HEATR8-TTC4,HEATR8-TTC4,MROH7,MROH7 EXON Silent,Silent,Silent,Missense_P470S,Silent exm61887 1 55136529 [T/C] NR_037639,NR_037641,NR_037640,NM_001039464,NR_026782 HEATR8-TTC4,HEATR8-TTC4,HEATR8-TTC4,MROH7,MROH7 EXON Silent,Silent,Silent,Missense_V509A,Silent exm61890 1 55136559 [A/G] NR_037639,NR_037641,NR_037640,NM_001039464,NR_026782 HEATR8-TTC4,HEATR8-TTC4,HEATR8-TTC4,MROH7,MROH7 EXON Silent,Silent,Silent,Missense_Q519R,Silent exm61907 1 55139471 [T/C] NR_037639,NR_037641,NR_037640,NM_001039464,NR_026782 HEATR8-TTC4,HEATR8-TTC4,HEATR8-TTC4,MROH7,MROH7 EXON Silent,Silent,Silent,Missense_P598L,Silent exm61908 1 55139691 [T/G] NR_037639,NR_037641,NR_037640,NM_001039464,NR_026782 HEATR8-TTC4,HEATR8-TTC4,HEATR8-TTC4,MROH7,MROH7 EXON Silent,Silent,Silent,Missense_M601I,Silent exm61914 1 55139741 [A/G] NR_037639,NR_037641,NR_037640,NM_001039464,NR_026782 HEATR8-TTC4,HEATR8-TTC4,HEATR8-TTC4,MROH7,MROH7 EXON Silent,Silent,Silent,Missense_H618R,Silent exm61919 1 55139825 [A/G] NR_037639,NR_037641,NR_037640,NM_001039464,NR_026782 HEATR8-TTC4,HEATR8-TTC4,HEATR8-TTC4,MROH7,MROH7 Silent,Silent,Silent,Silent,Silent exm61920 1 55144466 [A/G] NR_037639,NR_037641,NR_037640,NM_001039464,NR_026782 HEATR8-TTC4,HEATR8-TTC4,HEATR8-TTC4,MROH7,MROH7 EXON Silent,Silent,Silent,Missense_K663R,Silent exm61921 1 55144468 [T/C] NR_037639,NR_037641,NR_037640,NM_001039464,NR_026782 HEATR8-TTC4,HEATR8-TTC4,HEATR8-TTC4,MROH7,MROH7 EXON Silent,Silent,Silent,Missense_H664Y,Silent exm61925 1 55144505 [A/G] NR_037639,NR_037641,NR_037640,NM_001039464,NR_026782 HEATR8-TTC4,HEATR8-TTC4,HEATR8-TTC4,MROH7,MROH7 EXON Silent,Silent,Silent,Missense_Q676R,Silent exm61928 1 55144525 [A/G] NR_037639,NR_037641,NR_037640,NM_001039464,NR_026782 HEATR8-TTC4,HEATR8-TTC4,HEATR8-TTC4,MROH7,MROH7 EXON Silent,Silent,Silent,Missense_E683K,Silent exm61931 1 55144968 [A/G] NR_037639,NR_037641,NR_037640,NM_001039464,NR_026782 HEATR8-TTC4,HEATR8-TTC4,HEATR8-TTC4,MROH7,MROH7 EXON Silent,Silent,Silent,Missense_I694M,Silent exm61936 1 55145072 [C/G] NR_037639,NR_037641,NR_037640,NM_001039464,NR_026782 HEATR8-TTC4,HEATR8-TTC4,HEATR8-TTC4,MROH7,MROH7 EXON Silent,Silent,Silent,Missense_S729T,Silent exm61943 1 55145619 [A/G] NR_037639,NR_037641,NR_037640,NM_001039464,NR_026782 HEATR8-TTC4,HEATR8-TTC4,HEATR8-TTC4,MROH7,MROH7 EXON Silent,Silent,Silent,Missense_R761Q,Silent exm61944 1 55145625 [T/G] NR_037639,NR_037641,NR_037640,NM_001039464,NR_026782 HEATR8-TTC4,HEATR8-TTC4,HEATR8-TTC4,MROH7,MROH7 EXON Silent,Silent,Silent,Missense_R763L,Silent exm61955 1 55151961 [A/G] NR_037639,NR_037641,NR_037640,NM_001039464,NR_026782 HEATR8-TTC4,HEATR8-TTC4,HEATR8-TTC4,MROH7,MROH7 EXON Silent,Silent,Silent,Missense_V851I,Silent exm61956 1 55151986 [A/G] NR_037639,NR_037641,NR_037640,NM_001039464,NR_026782 HEATR8-TTC4,HEATR8-TTC4,HEATR8-TTC4,MROH7,MROH7 EXON Silent,Silent,Silent,Missense_R859K,Silent exm61958 1 55151994 [T/C] NR_037639,NR_037641,NR_037640,NM_001039464,NR_026782 HEATR8-TTC4,HEATR8-TTC4,HEATR8-TTC4,MROH7,MROH7 EXON Silent,Silent,Silent,Missense_Y862H,Silent exm61974 1 55161083 [T/C] NR_037639,NR_037641,NR_037640,NM_001039464,NR_026782 HEATR8-TTC4,HEATR8-TTC4,HEATR8-TTC4,MROH7,MROH7 EXON Silent,Silent,Silent,Missense_R962C,Silent exm61979 1 55161125 [A/G] NR_037639,NR_037641,NR_037640,NM_001039464,NR_026782 HEATR8-TTC4,HEATR8-TTC4,HEATR8-TTC4,MROH7,MROH7 EXON Silent,Silent,Silent,Missense_E976K,Silent exm61980 1 55161141 [T/C] NR_037639,NR_037641,NR_037640,NM_001039464,NR_026782 HEATR8-TTC4,HEATR8-TTC4,HEATR8-TTC4,MROH7,MROH7 EXON Silent,Silent,Silent,Missense_T981M,Silent exm61985 1 55166015 [T/C] NR_037639,NR_037641,NR_037640,NM_001039464,NR_026782 HEATR8-TTC4,HEATR8-TTC4,HEATR8-TTC4,MROH7,MROH7 EXON Silent,Silent,Silent,Missense_R996C,Silent exm61986 1 55166016 [A/G] NR_037639,NR_037641,NR_037640,NM_001039464,NR_026782 HEATR8-TTC4,HEATR8-TTC4,HEATR8-TTC4,MROH7,MROH7 EXON Silent,Silent,Silent,Missense_R996H,Silent exm61990 1 55166079 [T/C] NR_037639,NR_037641,NR_037640,NM_001039464,NR_026782 HEATR8-TTC4,HEATR8-TTC4,HEATR8-TTC4,MROH7,MROH7 EXON Silent,Silent,Silent,Missense_I1017T,Silent exm61993 1 55166099 [T/C] NR_037639,NR_037641,NR_037640,NM_001039464,NR_026782 HEATR8-TTC4,HEATR8-TTC4,HEATR8-TTC4,MROH7,MROH7 EXON Silent,Silent,Silent,Nonsense_R1024X,Silent exm62003 1 55166892 [T/C] NR_037639,NR_037641,NR_037640,NM_001039464,NR_026782 HEATR8-TTC4,HEATR8-TTC4,HEATR8-TTC4,MROH7,MROH7 EXON Silent,Silent,Silent,Missense_A1061V,Silent exm62007-other 1 55166995 [T/C] NR_037639,NR_037641,NR_037640,NM_001039464,NR_026782 HEATR8-TTC4,HEATR8-TTC4,HEATR8-TTC4,MROH7,MROH7 EXON Silent,Silent,Silent,Synonymous_D1095D,Silent exm62012 1 55167782 [T/C] NR_037639,NR_037641,NR_037640,NM_001039464,NR_026782 HEATR8-TTC4,HEATR8-TTC4,HEATR8-TTC4,MROH7,MROH7 EXON Silent,Silent,Silent,Missense_S1102F,Silent exm62025 1 55168357 [T/C] NR_037639,NR_037641,NR_037640,NM_001039464,NR_026782 HEATR8-TTC4,HEATR8-TTC4,HEATR8-TTC4,MROH7,MROH7 EXON Silent,Silent,Silent,Missense_A1168V,Silent exm62027 1 55168366 [A/G] NR_037639,NR_037641,NR_037640,NM_001039464,NR_026782 HEATR8-TTC4,HEATR8-TTC4,HEATR8-TTC4,MROH7,MROH7 EXON Silent,Silent,Silent,Missense_R1171Q,Silent exm62034 1 55172129 [A/G] NR_037639,NR_037641,NR_037640,NM_001039464,NR_026782 HEATR8-TTC4,HEATR8-TTC4,HEATR8-TTC4,MROH7,MROH7 EXON Silent,Silent,Silent,Missense_A1196T,Silent exm62040 1 55172201 [A/G] NR_037639,NR_037641,NR_037640,NM_001039464,NR_026782 HEATR8-TTC4,HEATR8-TTC4,HEATR8-TTC4,MROH7,MROH7 EXON Silent,Silent,Silent,Missense_M1220V,Silent exm62044 1 55174729 [A/G] NR_037639,NR_037641,NR_037640,NM_001039464,NR_026782 HEATR8-TTC4,HEATR8-TTC4,HEATR8-TTC4,MROH7,MROH7 EXON Silent,Silent,Silent,Missense_R1237H,Silent exm62046 1 55174748 [A/T] NR_037639,NR_037641,NR_037640,NM_001039464,NR_026782 HEATR8-TTC4,HEATR8-TTC4,HEATR8-TTC4,MROH7,MROH7 EXON Silent,Silent,Silent,Synonymous_A1243A,Silent exm62050 1 55175664 [A/G] NR_037639,NR_037641,NR_037640,NM_001039464,NR_026782 HEATR8-TTC4,HEATR8-TTC4,HEATR8-TTC4,MROH7,MROH7 EXON Silent,Silent,Silent,Missense_Y1259C,Silent exm62052 1 55175679 [A/G] NR_037639,NR_037641,NR_037640,NM_001039464,NR_026782 HEATR8-TTC4,HEATR8-TTC4,HEATR8-TTC4,MROH7,MROH7 EXON Silent,Silent,Silent,Missense_Q1264R,Silent exm62058 1 55175775 [C/G] NR_037639,NR_037641,NR_037640,NM_001039464,NR_026782 HEATR8-TTC4,HEATR8-TTC4,HEATR8-TTC4,MROH7,MROH7 EXON Silent,Silent,Silent,Missense_S1296T,Silent exm62061 1 55175807 [T/C] NR_037639,NR_037641,NR_037640,NM_001039464,NR_026782 HEATR8-TTC4,HEATR8-TTC4,HEATR8-TTC4,MROH7,MROH7 EXON Silent,Silent,Silent,Missense_R1307C,Silent exm62063 1 55175822 [T/C] NR_037639,NR_037641,NR_037640,NM_001039464,NR_026782 HEATR8-TTC4,HEATR8-TTC4,HEATR8-TTC4,MROH7,MROH7 EXON Silent,Silent,Silent,Nonsense_Q1312X,Silent exm1833882 1 55175825 [G/C] NR_037639,NR_037641,NR_037640,NM_001039464,NR_026782 HEATR8-TTC4,HEATR8-TTC4,HEATR8-TTC4,MROH7,MROH7 EXON Silent,Silent,Silent,Missense_A1313P,Silent exm62071 1 55182300 [A/T] NR_037639,NR_037641,NR_037640,NM_004623 HEATR8-TTC4,HEATR8-TTC4,HEATR8-TTC4,TTC4 EXON Silent,Silent,Silent,Missense_S47T exm62079 1 55183290 [T/C] NR_037639,NR_037641,NR_037640,NM_004623 HEATR8-TTC4,HEATR8-TTC4,HEATR8-TTC4,TTC4 EXON Silent,Silent,Silent,Missense_L119F exm1833957 1 55183300 [A/G] NR_037639,NR_037641,NR_037640,NM_004623 HEATR8-TTC4,HEATR8-TTC4,HEATR8-TTC4,TTC4 EXON Silent,Silent,Silent,Missense_N122S exm62090 1 55188389 [A/G] NR_037639,NR_037641,NR_037640,NM_004623 HEATR8-TTC4,HEATR8-TTC4,HEATR8-TTC4,TTC4 EXON Silent,Silent,Silent,Missense_V171M exm62094 1 55188437 [T/C] NR_037639,NR_037641,NR_037640,NM_004623 HEATR8-TTC4,HEATR8-TTC4,HEATR8-TTC4,TTC4 EXON Silent,Silent,Silent,Missense_L187F exm62104 1 55197246 [A/C] NR_037639,NR_037641,NR_037640,NM_004623 HEATR8-TTC4,HEATR8-TTC4,HEATR8-TTC4,TTC4 EXON Silent,Silent,Silent,Missense_S257R exm62105 1 55197247 [A/G] NR_037639,NR_037641,NR_037640,NM_004623 HEATR8-TTC4,HEATR8-TTC4,HEATR8-TTC4,TTC4 EXON Silent,Silent,Silent,Missense_S257N exm62126 1 55207157 [T/C] NR_037639,NR_037641,NR_037640,NM_004623 HEATR8-TTC4,HEATR8-TTC4,HEATR8-TTC4,TTC4 EXON Silent,Silent,Silent,Missense_R379W exm2252197 1 55223536 [T/C] NM_152268 PARS2 EXON Synonymous_V433V exm62141 1 55223681 [A/G] NM_152268 PARS2 EXON Missense_A385V exm62146 1 55223744 [C/G] NM_152268 PARS2 EXON Missense_P364R exm62148 1 55223760 [A/C] NM_152268 PARS2 EXON Missense_D359Y exm62157 1 55223986 [C/G] NM_152268 PARS2 EXON Missense_E283D exm62162 1 55224131 [T/C] NM_152268 PARS2 EXON Missense_N235S exm62167 1 55224269 [T/C] NM_152268 PARS2 EXON Missense_R189Q exm62174 1 55224512 [T/C] NM_152268 PARS2 EXON Missense_E108G exm1834096 1 55224552 [T/C] NM_152268 PARS2 EXON Missense_V95I exm62184 1 55224672 [A/G] NM_152268 PARS2 EXON Missense_R55W exm62189 1 55224751 [A/C] NM_152268 PARS2 EXON Missense_R28S exm62191 1 55224773 [A/C] NM_152268 PARS2 EXON Missense_L21R exm62193 1 55224789 [T/C] NM_152268 PARS2 EXON Missense_T16A exm62201 1 55248059 [T/G] NM_001114108 TTC22 EXON Missense_A371D exm62202 1 55248074 [A/G] NM_001114108 TTC22 EXON Missense_L366P exm62204 1 55248104 [T/C] NM_001114108 TTC22 EXON Missense_G356D exm62207 1 55248119 [T/C] NM_001114108 TTC22 EXON Missense_K351R exm2233617 1 55248120 [T/C] NM_001114108 TTC22 EXON Missense_K351E exm62222 1 55251766 [T/C] NM_001114108,NM_017904 TTC22,TTC22 EXON Missense_I304V,Missense_I304V exm62235 1 55252738 [T/C] NM_001114108,NM_017904 TTC22,TTC22 EXON Nonsense_W250X,Nonsense_W250X exm62239 1 55253386 [T/C] NM_001114108,NM_017904 TTC22,TTC22 EXON Missense_R246Q,Missense_R246Q exm62240 1 55253387 [A/G] NM_001114108,NM_017904 TTC22,TTC22 EXON Nonsense_R246X,Nonsense_R246X exm62242 1 55253419 [T/C] NM_001114108,NM_017904 TTC22,TTC22 EXON Missense_R235Q,Missense_R235Q exm62243 1 55253420 [A/G] NM_001114108,NM_017904 TTC22,TTC22 EXON Missense_R235W,Missense_R235W exm62258 1 55266278 [T/C] NM_001114108,NM_017904 TTC22,TTC22 EXON Missense_G187R,Missense_G187R exm2233618 1 55266305 [T/C] NM_001114108,NM_017904 TTC22,TTC22 EXON Missense_A178T,Missense_A178T exm62267 1 55266533 [A/C] NM_001114108,NM_017904 TTC22,TTC22 EXON Missense_A102S,Missense_A102S exm62271 1 55266617 [A/C] NM_001114108,NM_017904 TTC22,TTC22 EXON Missense_A74S,Missense_A74S exm62276 1 55266797 [C/G] NM_001114108,NM_017904 TTC22,TTC22 EXON Missense_L14V,Missense_L14V exm62287 1 55271845 [T/C] NM_001110533,NM_152607 C1orf177,C1orf177 EXON Missense_T19M,Missense_T19M exm62293 1 55272734 [C/G] NM_001110533,NM_152607 C1orf177,C1orf177 EXON Missense_S57C,Missense_S57C exm1834432 1 55272740 [A/G] NM_001110533,NM_152607 C1orf177,C1orf177 EXON Missense_R59H,Missense_R59H exm62294 1 55272743 [A/G] NM_001110533,NM_152607 C1orf177,C1orf177 EXON Missense_Y60C,Missense_Y60C exm62306 1 55273355 [T/C] NM_001110533,NM_152607 C1orf177,C1orf177 EXON Missense_R117W,Missense_R117W exm62307 1 55273356 [A/G] NM_001110533,NM_152607 C1orf177,C1orf177 EXON Missense_R117Q,Missense_R117Q exm62312 1 55273580 [T/G] NM_001110533,NM_152607 C1orf177,C1orf177 EXON Missense_G126C,Missense_G126C exm62316 1 55273635 [T/C] NM_001110533,NM_152607 C1orf177,C1orf177 EXON Missense_T144I,Missense_T144I exm62317 1 55273652 [T/G] NM_001110533,NM_152607 C1orf177,C1orf177 EXON Missense_S150A,Missense_S150A exm62319 1 55273670 [T/C] NM_001110533,NM_152607 C1orf177,C1orf177 EXON Nonsense_R156X,Nonsense_R156X exm62329 1 55277590 [T/C] NM_001110533,NM_152607 C1orf177,C1orf177 EXON Missense_P202S,Missense_P202S exm62331 1 55277599 [T/C] NM_001110533,NM_152607 C1orf177,C1orf177 EXON Missense_Y205H,Missense_Y205H exm62339 1 55277818 [A/G] NM_001110533,NM_152607 C1orf177,C1orf177 EXON Missense_G240S,Missense_G240S exm62346 1 55279601 [A/G] NM_001110533,NM_152607 C1orf177,C1orf177 EXON Missense_T293A,Missense_T293A exm62347 1 55279641 [T/G] NM_001110533,NM_152607 C1orf177,C1orf177 EXON Missense_R306L,Missense_R306L exm62352 1 55280690 [A/G] NM_001110533,NM_152607 C1orf177,C1orf177 EXON Missense_C343Y,Missense_C343Y exm1834456 1 55282680 [T/C] NM_001110533,NM_152607 C1orf177,C1orf177 EXON Missense_R357C,Missense_R357C exm62353 1 55282719 [T/C] NM_001110533,NM_152607 C1orf177,C1orf177 EXON Missense_R370W,Missense_R370W exm62355 1 55282731 [C/G] NM_001110533,NM_152607 C1orf177,C1orf177 EXON Missense_R374G,Missense_R374G exm2264839 1 55304970 [A/G] NM_001110533,NM_152607 C1orf177,C1orf177 Silent,Silent exm62364 1 55307307 [A/G] NM_001110533,NM_152607 C1orf177,C1orf177 EXON Silent,Nonsense_W401X exm62367 1 55307332 [T/G] NM_001110533,NM_152607 C1orf177,C1orf177 EXON Silent,Missense_G410C exm62368 1 55307347 [T/G] NM_001110533,NM_152607 C1orf177,C1orf177 EXON Silent,Missense_X415E exm62377 1 55317935 [T/C] NM_014762 DHCR24 EXON Missense_D508N exm62387 1 55319120 [A/G] NM_014762 DHCR24 EXON Missense_R462C exm-rs718265 1 55319902 [A/G] NM_014762 DHCR24 EXON Synonymous_I342I exm62419 1 55337162 [T/C] NM_014762 DHCR24 EXON Missense_R246Q exm62420 1 55337163 [A/G] NM_014762 DHCR24 EXON Missense_R246W exm62421 1 55337168 [A/G] NM_014762 DHCR24 EXON Missense_P244L exm62422 1 55337173 [T/G] NM_014762 DHCR24 EXON Missense_F242L exm62427 1 55337283 [T/C] NM_014762 DHCR24 EXON Missense_E206K exm62433 1 55341645 [T/C] NM_014762 DHCR24 EXON Missense_V155M exm62445 1 55349442 [T/C] NM_014762 DHCR24 EXON Missense_R79Q exm62465 1 55451770 [A/G] NM_182532 TMEM61 EXON Missense_M6V exm62470 1 55451860 [A/G] NM_182532 TMEM61 EXON Missense_A36T exm62472 1 55451872 [A/G] NM_182532 TMEM61 EXON Missense_E40K exm62474 1 55451968 [A/G] NM_182532 TMEM61 EXON Missense_V72I exm62480 1 55452019 [A/G] NM_182532 TMEM61 EXON Missense_V89I exm62487 1 55452053 [A/G] NM_182532 TMEM61 EXON Missense_D100G exm62493 1 55457586 [A/C] NM_182532 TMEM61 EXON Missense_P148H exm62495 1 55457594 [T/C] NM_182532 TMEM61 EXON Missense_P151S exm1834670 1 55457687 [G/C] NM_182532 TMEM61 EXON Missense_L182V exm62510 1 55457762 [T/C] NM_182532 TMEM61 EXON Missense_R207W exm2268890 1 55462380 [T/C] exm1834698 1 55464948 [A/G] NM_057176 BSND EXON Missense_R30Q exm62529 1 55464986 [A/G] NM_057176 BSND EXON Missense_V43I exm62540 1 55472706 [C/G] NM_057176 BSND EXON Missense_E103D exm62546 1 55472854 [A/G] NM_057176 BSND EXON Missense_D153N exm62549 1 55472923 [T/C] NM_057176 BSND EXON Missense_R176C exm1834718 1 55473985 [A/G] NM_057176 BSND EXON Missense_H216R exm62561 1 55474053 [T/C] NM_057176 BSND EXON Nonsense_Q239X exm62566 1 55474101 [C/G] NM_057176 BSND EXON Missense_E255Q exm62568 1 55474144 [A/G] NM_057176 BSND EXON Missense_R269Q exm62573 1 55474189 [A/G] NM_057176 BSND EXON Missense_G284D exm62574 1 55474210 [A/G] NM_057176 BSND EXON Missense_E291G exm1834722 1 55474231 [A/G] NM_057176 BSND EXON Missense_G298E exm62575 1 55474255 [T/C] NM_057176 BSND EXON Missense_L306P exm-rs11206510 1 55496039 [T/C] exm-rs2479409 1 55504650 [A/G] exm62588 1 55505647 [T/G] NM_174936 PCSK9 EXON Missense_R46L exm62590 1 55505668 [T/C] NM_174936 PCSK9 EXON Missense_A53V exm62591 1 55505679 [A/G] NM_174936 PCSK9 EXON Missense_E57K exm62598 1 55509585 [T/C] NM_174936 PCSK9 EXON Missense_R93C exm62606 1 55512222 [C/G] NM_174936 PCSK9 EXON Nonsense_Y142X exm62607 1 55512267 [A/C] NM_174936 PCSK9 EXON Missense_N157K exm62616 1 55517952 [T/C] NM_174936 PCSK9 EXON Synonymous_D175D exm62621 1 55518085 [T/G] NM_174936 PCSK9 Silent exm2263347 1 55518371 [A/G] NM_174936 PCSK9 EXON Missense_G236S exm2252207 1 55518418 [T/C] NM_174936 PCSK9 EXON Synonymous_R251R exm62635 1 55518419 [A/G] NM_174936 PCSK9 EXON Missense_V252M exm62636 1 55518422 [T/C] NM_174936 PCSK9 EXON Missense_L253F exm62641 1 55521701 [A/C] NM_174936 PCSK9 EXON Missense_P279T exm62642 1 55521713 [A/C] NM_174936 PCSK9 EXON Missense_L283M exm62652 1 55523076 [T/C] NM_174936 PCSK9 EXON Missense_R357C exm62659 1 55523178 [A/C] NM_174936 PCSK9 EXON Missense_H391N exm62666 1 55523779 [A/C] NM_174936 PCSK9 EXON Missense_H417Q exm2263351 1 55523855 [A/G] NM_174936 PCSK9 EXON Missense_A443T exm62678 1 55524222 [T/C] NM_174936 PCSK9 EXON Missense_R469W exm62679 1 55524237 [A/G] NM_174936 PCSK9 EXON Missense_V474I exm1834776 1 55524262 [A/G] NM_174936 PCSK9 EXON Missense_E482G exm62688 1 55524309 [A/G] NM_174936 PCSK9 EXON Missense_E498K exm62698 1 55525301 [A/G] NM_174936 PCSK9 EXON Missense_R549H exm62699 1 55525313 [A/G] NM_174936 PCSK9 EXON Missense_H553R exm62700 1 55525315 [G/C] NM_174936 PCSK9 EXON Missense_Q554E exm2252208 1 55527217 [T/C] NM_174936 PCSK9 EXON Synonymous_A617A exm62708 1 55527222 [A/C] NM_174936 PCSK9 EXON Missense_Q619P exm62717 1 55529187 [A/G] NM_174936 PCSK9 EXON Missense_G670E exm62720 1 55529215 [A/C] NM_174936 PCSK9 EXON Nonsense_C679X exm62722 1 55529228 [G/C] NM_174936 PCSK9 EXON Missense_L684V exm62737 1 55541174 [A/G] NM_015306 USP24 EXON Missense_V2468A exm62738 1 55541192 [A/G] NM_015306 USP24 EXON Missense_I2462T exm62742 1 55544228 [T/C] NM_015306 USP24 EXON Missense_M2433V exm2233624 1 55545230 [C/G] NM_015306 USP24 EXON Missense_G2394A exm62750 1 55545240 [T/C] NM_015306 USP24 EXON Missense_M2391V exm62756 1 55548949 [T/C] NM_015306 USP24 EXON Missense_N2324S exm62758 1 55548991 [T/C] NM_015306 USP24 EXON Missense_R2310Q exm2252210 1 55549014 [A/C] NM_015306 USP24 EXON Synonymous_L2302L exm62761 1 55549014 [A/C] NM_015306 USP24 EXON Synonymous_L2302L exm62781 1 55560999 [T/A] NM_015306 USP24 EXON Missense_D2044E exm62783 1 55561048 [T/C] NM_015306 USP24 EXON Missense_R2028H exm62792 1 55563340 [T/C] NM_015306 USP24 EXON Synonymous_V1882V exm2252211 1 55563340 [T/C] NM_015306 USP24 EXON Synonymous_V1882V exm62795 1 55563710 [C/G] NM_015306 USP24 EXON Missense_S1834C exm62802 1 55567338 [A/C] NM_015306 USP24 EXON Missense_F1688L exm62826 1 55590202 [A/G] NM_015306 USP24 EXON Missense_P1354S exm62833 1 55591172 [T/C] NM_015306 USP24 EXON Missense_T1261A exm62835 1 55591192 [A/G] NM_015306 USP24 EXON Missense_T1254M exm2233626 1 55591427 [T/C] NM_015306 USP24 EXON Missense_V1214I exm62843 1 55598218 [T/C] NM_015306 USP24 EXON Synonymous_E1179E exm62850 1 55600058 [A/G] NM_015306 USP24 EXON Missense_A1077V exm62853 1 55603229 [T/C] NM_015306 USP24 EXON Missense_S1054G exm62885 1 55613326 [T/C] NM_015306 USP24 EXON Missense_R705Q exm62889 1 55613380 [A/G] NM_015306 USP24 EXON Missense_A687V exm1835092 1 55622979 [C/G] NM_015306 USP24 EXON Missense_R431T exm62913 1 55624589 [A/C] NM_015306 USP24 EXON Missense_S397A exm62922 1 55625328 [T/C] NM_015306 USP24 EXON Missense_I342V exm62928 1 55631586 [T/C] NM_015306 USP24 EXON Missense_K300R exm62932 1 55638075 [A/G] NM_015306 USP24 EXON Missense_T226I exm62940 1 55643658 [T/C] NM_015306 USP24 EXON Missense_T158A exm62949 1 55680722 [A/G] NM_015306 USP24 EXON Missense_T22I exm-rs12239436 1 55742837 [A/G] exm2252228 1 56035952 [T/C] exm2264840 1 56458937 [A/G] exm-rs11206801 1 56850686 [A/C] exm62980 1 56962264 [T/C] NM_003713 PPAP2B EXON Missense_V299M exm62982 1 56962311 [A/G] NM_003713 PPAP2B EXON Missense_T283M exm62986 1 56962339 [T/C] NM_003713 PPAP2B EXON Missense_V274M exm-rs17114036 1 56962821 [A/G] NM_003713 PPAP2B Silent exm-rs9970807 1 56965664 [T/C] NM_003713 PPAP2B Silent exm-rs17114046 1 56966350 [A/G] NM_003713 PPAP2B Silent exm62990 1 56977676 [A/G] NM_003713 PPAP2B EXON Missense_A261V exm62993 1 56977808 [T/C] NM_003713 PPAP2B EXON Missense_R217H exm63008 1 57002627 [T/C] NM_003713 PPAP2B EXON Synonymous_A99A exm1838386 1 57002628 [A/G] NM_003713 PPAP2B EXON Missense_A99V exm63009 1 57002644 [T/C] NM_003713 PPAP2B EXON Missense_V94I exm2268691 1 57007539 [T/C] NM_003713 PPAP2B Silent exm63033 1 57158052 [T/C] NM_006252 PRKAA2 EXON Missense_R118W exm63042 1 57161694 [A/T] NM_006252 PRKAA2 EXON Missense_E217V exm63053 1 57169921 [T/G] NM_006252 PRKAA2 EXON Missense_A356S exm63069 1 57173352 [T/C] NM_006252 PRKAA2 EXON Missense_M542T exm63104 1 57204316 [T/G] NM_001004303 C1orf168 EXON Missense_I572L exm63108 1 57206385 [A/G] NM_001004303 C1orf168 EXON Missense_S563L exm63118 1 57207874 [T/C] NM_001004303 C1orf168 EXON Missense_E522K exm63119 1 57207896 [T/C] NM_001004303 C1orf168 Silent exm63127 1 57209853 [G/C] NM_001004303 C1orf168 EXON Missense_D492H exm63128 1 57209907 [A/C] NM_001004303 C1orf168 EXON Nonsense_E474X exm63129 1 57209939 [T/C] NM_001004303 C1orf168 EXON Missense_C463Y exm63130 1 57216747 [A/G] NM_001004303 C1orf168 EXON Missense_P453S exm63133 1 57216786 [T/C] NM_001004303 C1orf168 EXON Missense_M440V exm63139 1 57219539 [A/C] NM_001004303 C1orf168 EXON Missense_K400N exm63150 1 57224387 [A/T] NM_001004303 C1orf168 Silent exm63155 1 57252848 [G/C] NM_001004303 C1orf168 EXON Missense_R318T exm63156 1 57252868 [G/C] NM_001004303 C1orf168 EXON Missense_E311D exm63160 1 57254697 [A/G] NM_001004303 C1orf168 EXON Missense_L290F exm63162 1 57254729 [A/G] NM_001004303 C1orf168 EXON Missense_P279L exm63164 1 57254733 [A/G] NM_001004303 C1orf168 EXON Missense_P278S exm63166 1 57254757 [A/G] NM_001004303 C1orf168 EXON Missense_P270S exm63168 1 57257735 [A/C] NM_001004303 C1orf168 EXON Missense_A251S exm63169 1 57257778 [C/G] NM_001004303 C1orf168 EXON Missense_S236R exm63182 1 57258111 [G/C] NM_001004303 C1orf168 EXON Missense_I125M exm63185 1 57258182 [T/C] NM_001004303 C1orf168 EXON Missense_V102I exm63190 1 57258313 [T/C] NM_001004303 C1orf168 EXON Missense_N58S exm63192 1 57258320 [A/G] NM_001004303 C1orf168 EXON Missense_S56P exm63199 1 57284960 [C/G] NM_001004303 C1orf168 EXON Missense_E2Q exm2233631 1 57320444 [A/G] NM_000562 C8A EXON Silent exm1839082 1 57320600 [T/C] NM_000562 C8A EXON Missense_L9S exm63203 1 57333293 [A/G] NM_000562 C8A EXON Missense_R30Q exm63204 1 57333304 [T/C] NM_000562 C8A EXON Missense_P34S exm63206 1 57333311 [A/C] NM_000562 C8A EXON Missense_A36E exm63213 1 57340632 [A/G] NM_000562 C8A EXON Missense_R61Q exm63220 1 57340727 [A/C] NM_000562 C8A EXON Missense_Q93K exm63223 1 57341737 [T/C] NM_000562 C8A EXON Missense_R107C exm63233 1 57347189 [T/C] NM_000562 C8A EXON Missense_T179M exm63259 1 57351704 [T/G] NM_000562 C8A EXON Missense_E320D exm63264 1 57372463 [T/C] NM_000562 C8A EXON Missense_T407I exm63273 1 57373737 [A/G] NM_000562 C8A EXON Missense_R444H exm63276 1 57373778 [A/G] NM_000562 C8A EXON Missense_D458N exm63280 1 57378119 [G/C] NM_000562 C8A EXON Missense_P475R exm63293 1 57378223 [T/C] NM_000562 C8A EXON Missense_L510F exm1839256 1 57383288 [A/G] NM_000562 C8A EXON Missense_R552G exm63300 1 57383295 [A/G] NM_000562 C8A EXON Missense_G554D exm63302 1 57383315 [C/G] NM_000562 C8A EXON Missense_E561Q exm63307 1 57383357 [T/C] NM_000562 C8A EXON Missense_P575S exm63308 1 57383358 [T/C] NM_000562 C8A EXON Missense_P575L exm63310 1 57383376 [T/C] NM_000562 C8A EXON Missense_T581M exm63319 1 57395114 [A/C] NM_000066 C8B EXON Missense_C580F exm2233633 1 57395130 [T/C] NM_000066 C8B EXON Missense_N575D exm63327 1 57397497 [A/T] NM_000066 C8B EXON Missense_V536D exm1839344 1 57406565 [G/C] NM_000066 C8B EXON Missense_W452S exm63335 1 57406586 [A/G] NM_000066 C8B EXON Missense_T445M exm63338 1 57406637 [T/C] NM_000066 C8B EXON Missense_R428Q exm63339 1 57406638 [A/G] NM_000066 C8B EXON Nonsense_R428X exm63348 1 57409459 [A/C] NM_000066 C8B EXON Missense_D382Y exm63350 1 57411524 [T/C] NM_000066 C8B EXON Missense_V359I exm63359 1 57411632 [A/G] NM_000066 C8B EXON Missense_R323W exm63360 1 57411642 [G/C] NM_000066 C8B EXON Missense_Q319H exm63366 1 57411713 [A/G] NM_000066 C8B EXON Missense_R296C exm63372 1 57415263 [G/C] NM_000066 C8B EXON Missense_H277D exm63376 1 57415310 [A/G] NM_000066 C8B EXON Missense_P261L exm63379 1 57415368 [A/G] NM_000066 C8B EXON Missense_R242C exm63388 1 57417782 [A/G] NM_000066 C8B EXON Missense_P202L exm63397 1 57420448 [G/C] NM_000066 C8B EXON Missense_D148E exm63405 1 57422484 [T/C] NM_000066 C8B EXON Missense_G117R exm63406 1 57422511 [T/C] NM_000066 C8B EXON Missense_E108K exm63410 1 57422562 [A/G] NM_000066 C8B EXON Nonsense_Q91X exm1839402 1 57422576 [T/C] NM_000066 C8B EXON Missense_Y86C exm63414 1 57425730 [G/C] NM_000066 C8B EXON Missense_S71C exm63417 1 57425778 [T/C] NM_000066 C8B EXON Missense_S55N exm63418 1 57425792 [C/G] NM_000066 C8B EXON Missense_S50R exm63419 1 57425810 [G/C] NM_000066 C8B EXON Missense_N44K exm1839462 1 57431601 [A/C] NM_000066 C8B EXON Missense_W7C exm63427 1 57476376 [A/C] NM_021080 DAB1 EXON Missense_G554C exm63453 1 57480822 [A/G] NM_021080 DAB1 EXON Missense_T393M exm63470 1 57489225 [T/C] NM_021080 DAB1 EXON Missense_G292S exm63472 1 57489239 [T/C] NM_021080 DAB1 EXON Missense_S287N exm63473 1 57489261 [A/G] NM_021080 DAB1 EXON Missense_P280S exm63486 1 57528562 [C/G] NM_021080 DAB1 EXON Missense_V240L exm63487 1 57528609 [A/G] NM_021080 DAB1 EXON Missense_T224I exm63489 1 57535052 [A/G] NM_021080 DAB1 EXON Missense_T215M exm1840143 1 57538076 [A/C] NM_021080 DAB1 EXON Missense_H106Q exm63507 1 57602311 [T/C] NM_021080 DAB1 EXON Missense_V71I exm2260473 1 57610673 [T/G] NM_021080 DAB1 Silent exm2264841 1 57760458 [A/G] NM_021080 DAB1 Silent exm-rs10159302 1 57805550 [A/C] NM_021080 DAB1 Silent exm-rs12407896 1 57933955 [A/G] NM_021080 DAB1 Silent exm2268892 1 57956702 [T/C] NM_021080 DAB1 Silent exm2268693 1 58368541 [T/C] NM_021080 DAB1 Silent exm-rs558475 1 58601866 [A/C] NM_021080 DAB1 Silent exm-rs527409 1 58757915 [T/C] exm2252354 1 58855299 [T/C] exm2268893 1 58913654 [T/C] exm-rs10889092 1 58915024 [T/C] exm63540 1 58946647 [A/G] NM_145243 OMA1 EXON Missense_T522M exm63542 1 58946710 [A/G] NM_145243 OMA1 EXON Missense_M501T exm63549 1 58971748 [A/T] NM_145243 OMA1 EXON Missense_D450V exm63562 1 58996320 [A/C] NM_145243 OMA1 EXON Missense_D365Y exm63569 1 58999651 [T/G] NM_145243 OMA1 EXON Missense_I329L exm63575 1 58999853 [T/C] NM_145243 OMA1 EXON Missense_I294V exm63576 1 58999882 [T/C] NM_145243 OMA1 EXON Missense_N284S exm63579 1 58999918 [T/C] NM_145243 OMA1 EXON Missense_E272G exm63582 1 58999978 [A/G] NM_145243 OMA1 EXON Missense_M252T exm63585 1 59002200 [T/G] NM_145243 OMA1 EXON Missense_E238D exm63591 1 59002282 [A/C] NM_145243 OMA1 EXON Missense_F211C exm63597 1 59002375 [T/C] NM_145243 OMA1 EXON Missense_K180R exm63610 1 59004602 [A/C] NM_145243 OMA1 EXON Missense_L122W exm63612 1 59004617 [A/G] NM_145243 OMA1 EXON Missense_P117L exm63613 1 59004762 [A/G] NM_145243 OMA1 EXON Missense_H69Y exm63614 1 59004766 [T/G] NM_145243 OMA1 EXON Missense_N67K exm63616 1 59004804 [T/C] NM_145243 OMA1 EXON Missense_V55I exm63619 1 59004873 [T/C] NM_145243 OMA1 EXON Missense_A32T exm1843394 1 59004894 [A/G] NM_145243 OMA1 EXON Missense_W25R exm63630 1 59041930 [T/C] NM_002353 TACSTD2 EXON Missense_R300Q exm63631 1 59041940 [T/C] NM_002353 TACSTD2 EXON Missense_I297V exm63635 1 59042017 [T/C] NM_002353 TACSTD2 EXON Missense_K271R exm63653 1 59042181 [T/G] NM_002353 TACSTD2 EXON Missense_D216E exm63660 1 59042311 [T/G] NM_002353 TACSTD2 EXON Missense_D173A exm63665 1 59042425 [A/C] NM_002353 TACSTD2 EXON Missense_R135L exm63675 1 59125683 [T/C] NM_001085487 MYSM1 EXON Missense_E825K exm63687 1 59131171 [A/G] NM_001085487 MYSM1 EXON Missense_R722C exm63705 1 59134708 [A/G] NM_001085487 MYSM1 EXON Missense_S555L exm63707 1 59137623 [A/G] NM_001085487 MYSM1 EXON Missense_S527F exm63718 1 59142603 [C/G] NM_001085487 MYSM1 EXON Missense_G462A exm63726 1 59147497 [C/G] NM_001085487 MYSM1 EXON Missense_E407Q exm63727 1 59147514 [T/C] NM_001085487 MYSM1 EXON Missense_R401H exm63739 1 59147799 [T/G] NM_001085487 MYSM1 EXON Missense_K306T exm63742 1 59147851 [A/G] NM_001085487 MYSM1 EXON Missense_L289F exm63744 1 59147926 [T/C] NM_001085487 MYSM1 EXON Missense_T264A exm63747 1 59147962 [T/G] NM_001085487 MYSM1 EXON Missense_S252R exm63749 1 59148002 [A/C] NM_001085487 MYSM1 EXON Missense_Q238H exm63753 1 59148118 [T/A] NM_001085487 MYSM1 EXON Missense_C200S exm63755 1 59148136 [T/C] NM_001085487 MYSM1 EXON Missense_K194E exm63770 1 59156090 [T/C] NM_001085487 MYSM1 Silent exm-rs2811893 1 59162148 [T/C] NM_001085487 MYSM1 Silent exm2268894 1 59251097 [T/G] NR_034015,NR_034014 LOC100131060,LOC100131060 Silent,Silent exm-rs4601609 1 59325626 [T/C] NR_034015,NR_034014 LOC100131060,LOC100131060 Silent,Silent exm2268695 1 59368947 [T/G] exm2252401 1 59734367 [T/C] exm63817 1 59787270 [A/G] NM_018291,NM_001113411,NM_001244714 FGGY,FGGY,FGGY EXON Missense_V17I,Missense_V17I,Missense_V17I exm63819 1 59787350 [T/G] NM_018291,NM_001113411,NM_001244714 FGGY,FGGY,FGGY EXON Missense_N43K,Missense_N43K,Missense_N43K exm63821 1 59787409 [G/C] NM_018291,NM_001113411,NM_001244714 FGGY,FGGY,FGGY EXON Missense_C63S,Missense_C63S,Missense_C63S exm63822 1 59787414 [A/G] NM_018291,NM_001113411,NM_001244714 FGGY,FGGY,FGGY EXON Missense_V65I,Missense_V65I,Missense_V65I exm-rs17119280 1 59799161 [A/G] NM_018291,NM_001113411,NM_001244714 FGGY,FGGY,FGGY Silent,Silent,Silent exm2233644 1 59844449 [T/C] NM_018291,NM_001113411,NM_001244714 FGGY,FGGY,FGGY EXON Missense_A165V,Missense_A165V,Missense_A77V exm63835 1 59844459 [C/G] NM_018291,NM_001113411,NM_001244714 FGGY,FGGY,FGGY EXON Missense_F168L,Missense_F168L,Missense_F80L exm63839 1 59844503 [C/G] NM_018291,NM_001113411,NM_001244714 FGGY,FGGY,FGGY EXON Missense_T183R,Missense_T183R,Missense_T95R exm63845 1 59922649 [A/G] NM_018291,NM_001113411,NM_001244714 FGGY,FGGY,FGGY EXON Missense_V191M,Missense_V191M,Missense_V103M exm63851 1 59978048 [G/C] NM_018291,NM_001113411,NM_001244714 FGGY,FGGY,FGGY EXON Missense_L246V,Missense_L246V,Missense_L158V exm63852 1 59978070 [T/C] NM_018291,NM_001113411,NM_001244714 FGGY,FGGY,FGGY EXON Missense_A253V,Missense_A253V,Missense_A165V exm63856 1 60019796 [T/G] NM_018291,NM_001113411,NM_001244714 FGGY,FGGY,FGGY EXON Missense_G267V,Missense_G267V,Missense_G179V exm63860 1 60019853 [T/C] NM_018291,NM_001113411,NM_001244714 FGGY,FGGY,FGGY EXON Missense_T286M,Missense_T286M,Missense_T198M exm63866 1 60019898 [T/G] NM_018291,NM_001113411,NM_001244714 FGGY,FGGY,FGGY EXON Missense_G301V,Missense_G301V,Missense_G213V exm63867 1 60019899 [T/G] NM_018291,NM_001113411,NM_001244714 FGGY,FGGY,FGGY EXON Synonymous_G301G,Synonymous_G301G,Synonymous_G213G exm63871 1 60073550 [A/C] NM_018291,NM_001113411,NM_001244714 FGGY,FGGY,FGGY EXON Missense_N327H,Missense_N327H,Missense_N239H exm63872 1 60073563 [A/G] NM_018291,NM_001113411,NM_001244714 FGGY,FGGY,FGGY EXON Missense_Q331R,Missense_Q331R,Missense_Q243R exm-rs12727131 1 60084516 [A/G] NM_018291,NM_001113411,NM_001244714 FGGY,FGGY,FGGY Silent,Silent,Silent exm63876 1 60091687 [T/G] NM_018291,NM_001113411,NM_001244714 FGGY,FGGY,FGGY EXON Missense_A347S,Missense_A347S,Missense_A259S exm63880 1 60103910 [A/G] NM_018291,NM_001113411,NM_001244714 FGGY,FGGY,FGGY EXON Missense_I362V,Missense_I362V,Missense_I274V exm63882 1 60103931 [A/C] NM_018291,NM_001113411,NM_001244714 FGGY,FGGY,FGGY EXON Missense_H369N,Missense_H369N,Missense_H281N exm63883 1 60103937 [G/C] NM_018291,NM_001113411,NM_001244714 FGGY,FGGY,FGGY EXON Missense_D371H,Missense_D371H,Missense_D283H exm1845285 1 60103965 [A/G] NM_018291,NM_001113411,NM_001244714 FGGY,FGGY,FGGY EXON Missense_G380D,Missense_G380D,Missense_G292D exm63887 1 60104049 [T/C] NM_018291,NM_001113411,NM_001244714 FGGY,FGGY,FGGY Silent,Silent,Silent exm63915 1 60139794 [A/G] NM_018291,NM_001113411,NM_001244714 FGGY,FGGY,FGGY EXON Missense_A501T,Missense_A525T,Missense_A413T exm2252414 1 60152685 [A/G] NM_018291,NM_001113411,NM_001244714 FGGY,FGGY,FGGY Silent,Silent,Silent exm2268895 1 60211466 [T/C] NM_018291,NM_001113411,NM_001244714 FGGY,FGGY,FGGY Silent,Silent,Silent exm63922 1 60228246 [A/G] NM_018291,NM_001113411,NM_001244714 FGGY,FGGY,FGGY EXON Missense_N549S,Missense_N573S,Missense_N461S exm1845312 1 60228254 [T/C] NM_018291,NM_001113411,NM_001244714 FGGY,FGGY,FGGY EXON Missense_X552R,Missense_X576R,Missense_X464R exm63927 1 60287549 [T/C] NM_015888 HOOK1 EXON Missense_A28V exm63930 1 60287591 [C/G] NM_015888 HOOK1 EXON Missense_A42G exm63937 1 60299125 [A/G] NM_015888 HOOK1 EXON Missense_I108V exm63954 1 60314033 [T/C] NM_015888 HOOK1 EXON Missense_Y326H exm63960 1 60314159 [T/C] NM_015888 HOOK1 EXON Missense_R368C exm1845332 1 60314815 [A/G] NM_015888 HOOK1 EXON Missense_R401Q exm63965 1 60314854 [A/G] NM_015888 HOOK1 EXON Missense_E414G exm63973 1 60325933 [A/G] NM_015888 HOOK1 EXON Missense_I489V exm63987 1 60330900 [T/C] NM_015888 HOOK1 EXON Missense_P576L exm63992 1 60331553 [T/C] NM_015888 HOOK1 EXON Missense_I585T exm63993 1 60331556 [A/G] NM_015888 HOOK1 EXON Missense_N586S exm63996 1 60331623 [A/G] NM_015888 HOOK1 EXON Missense_M608I exm64007 1 60338498 [T/C] NM_015888 HOOK1 EXON Missense_S683F exm64014 1 60338579 [A/G] NM_015888 HOOK1 EXON Missense_H710R exm64021 1 60359349 [A/G] NM_000775 CYP2J2 EXON Missense_R495C exm2252415 1 60366746 [T/C] NM_000775 CYP2J2 EXON Synonymous_A407A exm64040 1 60370667 [T/C] NM_000775 CYP2J2 EXON Missense_R356Q exm64041 1 60370671 [T/C] NM_000775 CYP2J2 EXON Missense_A355T exm64044 1 60370682 [A/G] NM_000775 CYP2J2 EXON Missense_P351L exm64046 1 60370710 [T/C] NM_000775 CYP2J2 EXON Missense_D342N exm64048 1 60373471 [T/G] NM_000775 CYP2J2 EXON Nonsense_Y330X exm1845358 1 60373527 [T/C] NM_000775 CYP2J2 EXON Missense_G312R exm64055 1 60375500 [A/C] NM_000775 CYP2J2 EXON Nonsense_E273X exm64060 1 60377365 [T/C] NM_000775 CYP2J2 EXON Missense_R200H exm64070 1 60377960 [T/C] NM_000775 CYP2J2 EXON Missense_A133T exm64074 1 60381612 [T/C] NM_000775 CYP2J2 EXON Missense_N124S exm64075 1 60381633 [T/C] NM_000775 CYP2J2 EXON Missense_R117Q exm2233649 1 60381646 [T/C] NM_000775 CYP2J2 EXON Missense_V113M exm1845370 1 60381730 [T/C] NM_000775 CYP2J2 EXON Missense_D85N exm64080 1 60392209 [T/C] NM_000775 CYP2J2 EXON Synonymous_L70L exm1845377 1 60392263 [A/G] NM_000775 CYP2J2 EXON Synonymous_F52F exm64090 1 60392390 [T/G] NM_000775 CYP2J2 EXON Missense_A10D exm64096 1 60456364 [T/C] NM_152377 C1orf87 EXON Missense_R541Q exm64097 1 60456365 [A/G] NM_152377 C1orf87 EXON Missense_R541W exm64106 1 60456478 [T/C] NM_152377 C1orf87 EXON Missense_R503H exm64107 1 60456479 [A/G] NM_152377 C1orf87 EXON Missense_R503C exm64109 1 60456491 [A/C] NM_152377 C1orf87 EXON Nonsense_E499X exm64110 1 60463283 [A/G] NM_152377 C1orf87 EXON Missense_T493I exm64113 1 60463343 [A/G] NM_152377 C1orf87 EXON Missense_T473M exm64138 1 60499231 [A/T] NM_152377 C1orf87 EXON Missense_N316Y exm64141 1 60499276 [T/C] NM_152377 C1orf87 EXON Missense_N301D exm64142 1 60499308 [A/G] NM_152377 C1orf87 EXON Missense_P290L exm1845404 1 60503756 [T/C] NM_152377 C1orf87 EXON Nonsense_W257X exm64151 1 60505617 [T/C] NM_152377 C1orf87 EXON Missense_R240K exm64153 1 60505677 [T/C] NM_152377 C1orf87 EXON Missense_R220H exm64157 1 60505771 [G/C] NM_152377 C1orf87 EXON Missense_P189A exm64158 1 60505774 [A/G] NM_152377 C1orf87 EXON Missense_R188C exm64161 1 60505800 [A/G] NM_152377 C1orf87 EXON Missense_A179V exm64165 1 60506673 [T/C] NM_152377 C1orf87 EXON Missense_D158G exm64166 1 60506698 [T/C] NM_152377 C1orf87 EXON Missense_E150K exm64169 1 60506761 [T/C] NM_152377 C1orf87 EXON Missense_G129R exm64173 1 60520956 [A/G] NM_152377 C1orf87 EXON Missense_H88Y exm64174 1 60520988 [A/G] NM_152377 C1orf87 EXON Missense_T77I exm2264843 1 60579518 [A/G] exm-rs2989476 1 61059259 [G/C] exm-rs472913 1 61095558 [C/G] exm2268697 1 61229363 [T/G] exm-rs1877734 1 61282089 [A/G] exm2260512 1 61442276 [A/G] exm2252445 1 61465289 [A/G] exm64190 1 61553987 [T/C] NM_001145511,NM_001145512,NM_001134673,NM_005595 NFIA,NFIA,NFIA,NFIA EXON Missense_P57L,Missense_P110L,Missense_P65L,Missense_P65L exm-rs6691768 1 61791863 [A/G] NM_001145511,NM_001145512,NM_001134673,NM_005595 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent exm64203 1 61798195 [T/G] NM_001145511,NM_001145512,NM_001134673,NM_005595 NFIA,NFIA,NFIA,NFIA EXON Missense_F205V,Missense_F258V,Missense_F213V,Missense_F213V exm64236 1 61920993 [A/G] NM_001145511,NM_001145512,NM_001134673,NM_005595 NFIA,NFIA,NFIA,NFIA EXON Silent,Silent,Silent,Missense_K480R exm1849030 1 61921034 [T/C] NM_001145511,NM_001145512,NM_001134673,NM_005595 NFIA,NFIA,NFIA,NFIA EXON Silent,Silent,Silent,Missense_P494S exm-rs4915746 1 61952574 [A/G] exm2252477 1 61987970 [T/C] exm64294 1 62190717 [C/G] NM_032027 TM2D1 EXON Missense_V26L exm64298 1 62190770 [T/C] NM_032027 TM2D1 EXON Missense_G8D exm64308 1 62228696 [A/G] NM_176877 INADL EXON Missense_V12M exm64312 1 62228751 [C/G] NM_176877 INADL EXON Missense_S30W exm64314 1 62228778 [A/G] NM_176877 INADL EXON Missense_Y39C exm64324 1 62232087 [T/C] NM_176877 INADL EXON Missense_P109L exm64333 1 62235027 [A/G] NM_176877 INADL EXON Missense_R153G exm64335 1 62235069 [A/G] NM_176877 INADL EXON Missense_V167I exm64341 1 62237224 [T/A] NM_176877 INADL EXON Missense_I216F exm64355 1 62253483 [A/G] NM_176877 INADL EXON Missense_G303R exm64356 1 62253546 [A/G] NM_176877 INADL EXON Missense_V324I exm64358 1 62253583 [A/C] NM_176877 INADL EXON Missense_P336H exm64361 1 62253601 [T/C] NM_176877 INADL EXON Missense_L342S exm64365 1 62257036 [A/C] NM_176877 INADL EXON Missense_E362A exm64370 1 62257092 [A/G] NM_176877 INADL EXON Missense_V381I exm64373 1 62261168 [A/G] NM_176877 INADL EXON Missense_I400V exm64376 1 62261214 [A/G] NM_176877 INADL EXON Missense_N415S exm64381 1 62263049 [A/C] NM_176877 INADL EXON Synonymous_R451R exm64387 1 62267321 [T/C] NM_176877 INADL EXON Missense_P477S exm64389 1 62267355 [A/G] NM_176877 INADL EXON Missense_E488G exm64399 1 62288689 [A/G] NM_176877 INADL EXON Missense_I586V exm64400 1 62288730 [C/G] NM_176877 INADL EXON Missense_Q599H exm64409 1 62299351 [T/C] NM_176877 INADL EXON Missense_T669I exm64411 1 62299365 [T/G] NM_176877 INADL EXON Missense_D674Y exm64412 1 62299410 [G/C] NM_176877 INADL EXON Missense_L689V exm64422 1 62321856 [T/C] NM_176877 INADL EXON Missense_I756T exm64428 1 62327304 [G/C] NM_176877 INADL EXON Missense_D802H exm64436 1 62330062 [A/G] NM_176877 INADL EXON Missense_M864I exm64438 1 62330080 [T/G] NM_176877 INADL EXON Missense_I870M exm64448 1 62330289 [A/G] NM_176877 INADL EXON Missense_Y940C exm1852006 1 62350016 [C/G] NM_176877 INADL EXON Missense_R1023G exm64469 1 62365276 [A/C] NM_176877 INADL EXON Missense_E1051D exm64472 1 62366977 [A/G] NM_176877 INADL EXON Missense_N1076S exm2233670 1 62367097 [T/C] NM_176877 INADL EXON Missense_T1116M exm64480 1 62374153 [A/G] NM_176877 INADL EXON Missense_R1164Q exm64483 1 62380262 [A/G] NM_176877 INADL EXON Missense_I1166V exm64488 1 62380298 [A/G] NM_176877 INADL EXON Missense_G1178S exm64493 1 62393420 [T/C] NM_176877 INADL EXON Missense_P1197S exm64551 1 62455935 [A/G] NM_176877 INADL EXON Missense_N1256D exm64555 1 62456014 [A/G] NM_176877 INADL EXON Missense_R1282H exm2273652 1 62456019 [A/G] NM_176877 INADL EXON Missense_G1284R exm64560 1 62483586 [T/C] NM_176877 INADL EXON Missense_T1309I exm1852739 1 62516657 [T/C] NM_176877 INADL EXON Missense_P1351L exm64568 1 62516683 [G/C] NM_176877 INADL EXON Missense_V1360L exm64572 1 62550192 [T/G] NM_176877 INADL EXON Missense_F1417V exm64573 1 62550219 [A/G] NM_176877 INADL EXON Missense_A1426T exm1852889 1 62574133 [T/C] NM_176877 INADL EXON Missense_Y1468H exm1852890 1 62574193 [A/G] NM_176877 INADL Silent exm64588 1 62579758 [A/G] NM_176877 INADL EXON Missense_E1499K exm64592 1 62579809 [T/G] NM_176877 INADL EXON Missense_V1516L exm64596 1 62579891 [T/G] NM_176877 INADL EXON Missense_G1543V exm64600 1 62579908 [A/G] NM_176877 INADL EXON Missense_V1549I exm64601 1 62579917 [T/C] NM_176877 INADL EXON Nonsense_R1552X exm64602 1 62579918 [A/G] NM_176877 INADL EXON Missense_R1552Q exm64607 1 62582212 [A/G] NM_176877 INADL EXON Missense_S1555N exm64608 1 62582235 [A/G] NM_176877 INADL EXON Missense_V1563M exm64617 1 62582847 [G/C] NM_176877 INADL EXON Missense_A1616G exm64634 1 62593737 [A/G] NM_176877 INADL EXON Missense_G1713R exm64637 1 62593749 [T/C] NM_176877 INADL EXON Missense_R1717W exm64638 1 62593750 [A/G] NM_176877 INADL EXON Missense_R1717Q exm-rs2481665 1 62594677 [T/C] NM_176877 INADL Silent exm64652 1 62613986 [A/G] NM_176877 INADL EXON Missense_A1768T exm64654 1 62614029 [T/C] NM_176877 INADL EXON Missense_S1782L exm64661 1 62672381 [A/T] NM_001164835,NM_019079 L1TD1,L1TD1 EXON Missense_R27S,Missense_R27S exm64663 1 62672415 [T/C] NM_001164835,NM_019079 L1TD1,L1TD1 EXON Missense_P39S,Missense_P39S exm64667 1 62672481 [A/G] NM_001164835,NM_019079 L1TD1,L1TD1 EXON Missense_I61V,Missense_I61V exm64675 1 62672637 [A/G] NM_001164835,NM_019079 L1TD1,L1TD1 EXON Missense_T113A,Missense_T113A exm64681 1 62672812 [T/C] NM_001164835,NM_019079 L1TD1,L1TD1 EXON Missense_M171T,Missense_M171T exm64685 1 62672889 [A/G] NM_001164835,NM_019079 L1TD1,L1TD1 EXON Missense_R197G,Missense_R197G exm64693 1 62673126 [T/C] NM_001164835,NM_019079 L1TD1,L1TD1 EXON Missense_F276L,Missense_F276L exm64696 1 62673287 [A/C] NM_001164835,NM_019079 L1TD1,L1TD1 EXON Missense_K329N,Missense_K329N exm64701 1 62675539 [A/G] NM_001164835,NM_019079 L1TD1,L1TD1 EXON Missense_V365I,Missense_V365I exm2275456 1 62675667 [T/G] NM_001164835,NM_019079 L1TD1,L1TD1 EXON Missense_E407D,Missense_E407D exm64715 1 62675673 [T/G] NM_001164835,NM_019079 L1TD1,L1TD1 EXON Missense_E409D,Missense_E409D exm64716 1 62675674 [A/C] NM_001164835,NM_019079 L1TD1,L1TD1 EXON Missense_P410T,Missense_P410T exm64726 1 62675798 [T/C] NM_001164835,NM_019079 L1TD1,L1TD1 EXON Missense_L451S,Missense_L451S exm2252524 1 62675892 [A/G] NM_001164835,NM_019079 L1TD1,L1TD1 EXON Synonymous_E482E,Synonymous_E482E exm64733 1 62675894 [A/G] NM_001164835,NM_019079 L1TD1,L1TD1 EXON Missense_E483G,Missense_E483G exm64736 1 62675945 [A/G] NM_001164835,NM_019079 L1TD1,L1TD1 EXON Missense_K500R,Missense_K500R exm64741 1 62676091 [A/C] NM_001164835,NM_019079 L1TD1,L1TD1 EXON Missense_P549T,Missense_P549T exm64744 1 62676188 [C/G] NM_001164835,NM_019079 L1TD1,L1TD1 EXON Missense_T581R,Missense_T581R exm64746 1 62676205 [A/C] NM_001164835,NM_019079 L1TD1,L1TD1 EXON Missense_K587Q,Missense_K587Q exm64748 1 62676284 [T/C] NM_001164835,NM_019079 L1TD1,L1TD1 EXON Missense_T613I,Missense_T613I exm64749 1 62676329 [T/G] NM_001164835,NM_019079 L1TD1,L1TD1 EXON Missense_I628R,Missense_I628R exm64761 1 62676688 [A/G] NM_001164835,NM_019079 L1TD1,L1TD1 EXON Missense_S748G,Missense_S748G exm2252525 1 62676714 [T/G] NM_001164835,NM_019079 L1TD1,L1TD1 EXON Synonymous_T756T,Synonymous_T756T exm64768 1 62676970 [A/G] NM_001164835,NM_019079 L1TD1,L1TD1 EXON Missense_S842G,Missense_S842G exm64783 1 62703977 [A/G] NM_181712 KANK4 EXON Missense_A987V exm64785 1 62704007 [T/A] NM_181712 KANK4 EXON Missense_M977K exm64787 1 62704029 [T/C] NM_181712 KANK4 EXON Missense_A970T exm64789 1 62704046 [T/C] NM_181712 KANK4 EXON Missense_R964H exm64790 1 62713164 [T/C] NM_181712 KANK4 EXON Missense_D955N exm64796 1 62713224 [C/G] NM_181712 KANK4 EXON Missense_V935L exm1853022 1 62718804 [T/C] NM_181712 KANK4 EXON Missense_N873D exm64807 1 62718827 [A/G] NM_181712 KANK4 EXON Missense_T865I exm64809 1 62718880 [T/G] NM_181712 KANK4 EXON Synonymous_G847G exm64811 1 62728784 [A/G] NM_181712 KANK4 EXON Missense_V840A exm64816 1 62728838 [T/C] NM_181712 KANK4 EXON Missense_H822R exm64818 1 62728902 [A/G] NM_181712 KANK4 EXON Missense_Y801H exm1853100 1 62732409 [A/G] NM_181712 KANK4 EXON Missense_L772F exm64827 1 62732421 [T/C] NM_181712 KANK4 EXON Missense_T768A exm64835 1 62733963 [T/C] NM_181712 KANK4 EXON Missense_E743K exm64843 1 62734089 [T/C] NM_181712 KANK4 EXON Missense_G701S exm64845 1 62734116 [T/C] NM_181712 KANK4 EXON Missense_D692N exm1853113 1 62734172 [T/C] NM_181712 KANK4 EXON Missense_E673G exm64853 1 62737151 [T/C] NM_181712 KANK4 EXON Missense_G671R exm64854 1 62737165 [A/G] NM_181712 KANK4 EXON Missense_V666A exm64862 1 62738932 [A/G] NM_181712 KANK4 EXON Missense_S615L exm64880 1 62739226 [T/C] NM_181712 KANK4 EXON Missense_R517K exm64885 1 62739302 [A/G] NM_181712 KANK4 EXON Missense_H492Y exm1853157 1 62739400 [A/T] NM_181712 KANK4 EXON Missense_D459V exm64892 1 62739433 [T/C] NM_181712 KANK4 EXON Missense_R448Q exm64899 1 62739542 [T/C] NM_181712 KANK4 EXON Missense_V412M exm64901 1 62739547 [A/G] NM_181712 KANK4 EXON Missense_T410M exm64908 1 62739719 [T/C] NM_181712 KANK4 EXON Missense_E353K exm64909 1 62739727 [A/G] NM_181712 KANK4 EXON Missense_S350L exm64910 1 62739761 [T/G] NM_181712 KANK4 EXON Missense_P339T exm64911 1 62739769 [A/C] NM_181712 KANK4 EXON Missense_R336M exm64912 1 62739801 [G/C] NM_181712 KANK4 EXON Missense_I325M exm64919 1 62739919 [A/G] NM_181712 KANK4 EXON Missense_P286L exm64920 1 62739928 [A/G] NM_181712 KANK4 EXON Missense_T283M exm64924 1 62739979 [T/C] NM_181712 KANK4 EXON Missense_D266G exm64925 1 62740027 [A/G] NM_181712 KANK4 EXON Missense_P250L exm64936 1 62740129 [A/G] NM_181712 KANK4 EXON Missense_S216F exm64944 1 62740264 [T/C] NM_181712 KANK4 EXON Missense_H171R exm2233682 1 62740400 [T/A] NM_181712 KANK4 EXON Missense_S126C exm2252530 1 62740752 [A/G] NM_181712 KANK4 EXON Synonymous_D8D exm64965 1 62905542 [T/C] NM_001017415,NM_001017416,NM_003368 USP1,USP1,USP1 EXON Missense_P2S,Missense_P2S,Missense_P2S exm64979 1 62907214 [A/G] NM_001017415,NM_001017416,NM_003368 USP1,USP1,USP1 EXON Missense_N76D,Missense_N76D,Missense_N76D exm64986 1 62908939 [A/G] NM_001017415,NM_001017416,NM_003368 USP1,USP1,USP1 EXON Missense_K169R,Missense_K169R,Missense_K169R exm2233685 1 62910612 [T/G] NM_001017415,NM_001017416,NM_003368 USP1,USP1,USP1 EXON Missense_M254R,Missense_M254R,Missense_M254R exm65006 1 62910943 [C/G] NM_001017415,NM_001017416,NM_003368 USP1,USP1,USP1 EXON Missense_N364K,Missense_N364K,Missense_N364K exm65007 1 62910957 [G/C] NM_001017415,NM_001017416,NM_003368 USP1,USP1,USP1 EXON Missense_G369A,Missense_G369A,Missense_G369A exm65010 1 62910981 [T/A] NM_001017415,NM_001017416,NM_003368 USP1,USP1,USP1 EXON Missense_D377V,Missense_D377V,Missense_D377V exm65013 1 62911046 [T/C] NM_001017415,NM_001017416,NM_003368 USP1,USP1,USP1 EXON Missense_P399S,Missense_P399S,Missense_P399S exm65018 1 62914153 [A/G] NM_001017415,NM_001017416,NM_003368 USP1,USP1,USP1 EXON Missense_T480A,Missense_T480A,Missense_T480A exm65023 1 62915972 [G/C] NM_001017415,NM_001017416,NM_003368 USP1,USP1,USP1 EXON Missense_L560V,Missense_L560V,Missense_L560V exm65031 1 62916290 [A/G] NM_001017415,NM_001017416,NM_003368 USP1,USP1,USP1 EXON Missense_I666V,Missense_I666V,Missense_I666V exm1854373 1 62916503 [A/G] NM_001017415,NM_001017416,NM_003368 USP1,USP1,USP1 EXON Missense_V737M,Missense_V737M,Missense_V737M exm65053 1 62923219 [T/G] NM_001271999,NM_001272000,NM_033407,NM_001272001 DOCK7,DOCK7,DOCK7,DOCK7 EXON Missense_T2113P,Missense_T2084P,Missense_T2093P,Missense_T2082P exm-rs1167998 1 62931632 [A/C] NM_001271999,NM_001272000,NM_033407,NM_001272001 DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent exm65097 1 62953070 [T/C] NM_001271999,NM_001272000,NM_033407,NM_001272001 DOCK7,DOCK7,DOCK7,DOCK7 EXON Silent,Missense_E1796G,Missense_E1805G,Silent exm65118 1 62962089 [T/A] NM_001271999,NM_001272000,NM_033407,NM_001272001 DOCK7,DOCK7,DOCK7,DOCK7 EXON Missense_F1606Y,Missense_F1575Y,Missense_F1584Y,Missense_F1575Y exm65125 1 62970369 [T/C] NM_001271999,NM_001272000,NM_033407,NM_001272001 DOCK7,DOCK7,DOCK7,DOCK7 EXON Missense_G1557S,Missense_G1526S,Missense_G1535S,Missense_G1526S exm65153 1 62993823 [A/G] NM_001271999,NM_001272000,NM_033407,NM_001272001 DOCK7,DOCK7,DOCK7,DOCK7 EXON Missense_T1312M,Missense_T1281M,Missense_T1281M,Missense_T1281M exm65188 1 63009368 [T/C] NM_001271999,NM_001272000,NM_033407,NM_001272001 DOCK7,DOCK7,DOCK7,DOCK7 EXON Missense_S970G,Missense_S939G,Missense_S939G,Missense_S939G exm65198 1 63018549 [T/C] NM_001271999,NM_001272000,NM_033407,NM_001272001 DOCK7,DOCK7,DOCK7,DOCK7 EXON Missense_V874M,Missense_V874M,Missense_V874M,Missense_V874M exm65200 1 63018564 [T/C] NM_001271999,NM_001272000,NM_033407,NM_001272001 DOCK7,DOCK7,DOCK7,DOCK7 EXON Missense_G869S,Missense_G869S,Missense_G869S,Missense_G869S exm65202 1 63021514 [T/G] NM_001271999,NM_001272000,NM_033407,NM_001272001 DOCK7,DOCK7,DOCK7,DOCK7 EXON Missense_P860T,Missense_P860T,Missense_P860T,Missense_P860T exm65208 1 63021621 [A/G] NM_001271999,NM_001272000,NM_033407,NM_001272001 DOCK7,DOCK7,DOCK7,DOCK7 EXON Missense_I824T,Missense_I824T,Missense_I824T,Missense_I824T exm-rs2131925 1 63025942 [T/G] NM_001271999,NM_001272000,NM_033407,NM_001272001 DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent exm65230 1 63043025 [T/C] NM_001271999,NM_001272000,NM_033407,NM_001272001 DOCK7,DOCK7,DOCK7,DOCK7 EXON Missense_M674V,Missense_M674V,Missense_M674V,Missense_M674V exm-rs1748195 1 63049593 [C/G] NM_001271999,NM_001272000,NM_033407,NM_001272001 DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent exm65235 1 63052178 [T/C] NM_001271999,NM_001272000,NM_033407,NM_001272001,NM_001272002 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 EXON Synonymous_P600P,Synonymous_P600P,Synonymous_P600P,Synonymous_P600P,Synonymous_P600P exm65238 1 63052222 [T/C] NM_001271999,NM_001272000,NM_033407,NM_001272001,NM_001272002 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 EXON Missense_K586E,Missense_K586E,Missense_K586E,Missense_K586E,Missense_K586E exm65257 1 63063616 [T/C] NM_001271999,NM_001272000,NM_033407,NM_001272001,NM_001272002,NM_014495 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,ANGPTL3 EXON Silent,Silent,Silent,Silent,Silent,Missense_L127F exm65259 1 63063688 [A/G] NM_001271999,NM_001272000,NM_033407,NM_001272001,NM_001272002,NM_014495 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,ANGPTL3 EXON Silent,Silent,Silent,Silent,Silent,Missense_N151D exm65261 1 63064415 [A/G] NM_001271999,NM_001272000,NM_033407,NM_001272001,NM_001272002,NM_014495 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,ANGPTL3 EXON Silent,Silent,Silent,Silent,Silent,Missense_V182M exm2273653 1 63064458 [T/C] NM_001271999,NM_001272000,NM_033407,NM_001272001,NM_001272002,NM_014495 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,ANGPTL3 EXON Silent,Silent,Silent,Silent,Silent,Missense_I196T exm65273 1 63067475 [T/G] NM_001271999,NM_001272000,NM_033407,NM_001272001,NM_001272002,NM_014495 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,ANGPTL3 EXON Silent,Silent,Silent,Silent,Silent,Missense_G253C exm65274 1 63067484 [A/G] NM_001271999,NM_001272000,NM_033407,NM_001272001,NM_001272002,NM_014495 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,ANGPTL3 EXON Silent,Silent,Silent,Silent,Silent,Missense_T256A exm1855540 1 63067494 [T/C] NM_001271999,NM_001272000,NM_033407,NM_001272001,NM_001272002,NM_014495 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,ANGPTL3 EXON Silent,Silent,Silent,Silent,Silent,Missense_M259T exm65276 1 63067994 [T/C] NM_001271999,NM_001272000,NM_033407,NM_001272001,NM_001272002,NM_014495 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,ANGPTL3 EXON Silent,Silent,Silent,Silent,Silent,Missense_S292P exm65277 1 63069703 [A/G] NM_001271999,NM_001272000,NM_033407,NM_001272001,NM_001272002,NM_014495 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,ANGPTL3 EXON Silent,Silent,Silent,Silent,Silent,Missense_R332Q exm65281 1 63069736 [A/G] NM_001271999,NM_001272000,NM_033407,NM_001272001,NM_001272002,NM_014495 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,ANGPTL3 EXON Silent,Silent,Silent,Silent,Silent,Missense_H343R exm65306 1 63084474 [A/G] NM_001271999,NM_001272000,NM_033407,NM_001272001,NM_001272002 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 EXON Missense_L529F,Missense_L529F,Missense_L529F,Missense_L529F,Missense_L529F exm65311 1 63085630 [T/C] NM_001271999,NM_001272000,NM_033407,NM_001272001,NM_001272002 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 EXON Missense_K487R,Missense_K487R,Missense_K487R,Missense_K487R,Missense_K487R exm65326 1 63096928 [A/G] NM_001271999,NM_001272000,NM_033407,NM_001272001,NM_001272002 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 EXON Missense_V422A,Missense_V422A,Missense_V422A,Missense_V422A,Missense_V422A exm65345 1 63113853 [A/G] NM_001271999,NM_001272000,NM_033407,NM_001272001,NM_001272002 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 EXON Missense_I219T,Missense_I219T,Missense_I219T,Missense_I219T,Missense_I219T exm65347 1 63113968 [T/C] NM_001271999,NM_001272000,NM_033407,NM_001272001,NM_001272002 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 EXON Missense_M181V,Missense_M181V,Missense_M181V,Missense_M181V,Missense_M181V exm-rs10889353 1 63118196 [A/C] NM_001271999,NM_001272000,NM_033407,NM_001272001,NM_001272002 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent exm2233691 1 63119791 [T/C] NM_001271999,NM_001272000,NM_033407,NM_001272001,NM_001272002 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 EXON Missense_D62N,Missense_D62N,Missense_D62N,Missense_D62N,Missense_D62N exm65360 1 63128715 [T/C] NM_001271999,NM_001272000,NM_033407,NM_001272001,NM_001272002 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 EXON Missense_N42S,Missense_N42S,Missense_N42S,Missense_N42S,Missense_N42S exm-rs12130333 1 63191777 [T/C] exm2260537 1 63201577 [A/G] exm65374 1 63270864 [T/C] NM_178221,NM_032852 ATG4C,ATG4C EXON Missense_T33M,Missense_T33M exm65375 1 63270896 [A/C] NM_178221,NM_032852 ATG4C,ATG4C EXON Missense_L44I,Missense_L44I exm65382 1 63282309 [A/G] NM_178221,NM_032852 ATG4C,ATG4C EXON Missense_N75S,Missense_N75S exm65384 1 63282324 [A/G] NM_178221,NM_032852 ATG4C,ATG4C EXON Missense_R80H,Missense_R80H exm65394 1 63282474 [A/G] NM_178221,NM_032852 ATG4C,ATG4C EXON Missense_G130D,Missense_G130D exm65395 1 63284676 [T/C] NM_178221,NM_032852 ATG4C,ATG4C EXON Missense_A132V,Missense_A132V exm65423 1 63307121 [A/G] NM_178221,NM_032852 ATG4C,ATG4C EXON Missense_K371R,Missense_K371R exm65426 1 63307174 [T/C] NM_178221,NM_032852 ATG4C,ATG4C EXON Nonsense_R389X,Nonsense_R389X exm65432 1 63329777 [T/G] NM_178221,NM_032852 ATG4C,ATG4C EXON Missense_D442Y,Missense_D442Y exm65434 1 63329784 [A/G] NM_178221,NM_032852 ATG4C,ATG4C EXON Missense_K444R,Missense_K444R exm65435 1 63329789 [T/C] NM_178221,NM_032852 ATG4C,ATG4C EXON Nonsense_Q446X,Nonsense_Q446X exm65436 1 63329808 [T/C] NM_178221,NM_032852 ATG4C,ATG4C EXON Missense_T452M,Missense_T452M exm2264846 1 63346976 [A/G] exm-rs17124318 1 63480730 [C/G] exm2268699 1 63493164 [T/G] exm-rs7526034 1 63586973 [T/G] exm-rs10493340 1 63591129 [A/G] exm65444 1 63788776 [T/C] NM_012183 FOXD3 EXON Missense_T16M exm65513 1 63872032 [T/C] NM_013339 ALG6 EXON Missense_Y131H exm65522 1 63877000 [T/G] NM_013339 ALG6 EXON Missense_K226N exm65526 1 63877638 [T/C] NM_013339 ALG6 EXON Missense_S241F exm65528 1 63877667 [A/G] NM_013339 ALG6 EXON Missense_T251A exm65531 1 63881552 [T/C] NM_013339 ALG6 EXON Missense_S304F exm65556 1 63902524 [C/G] NM_013339 ALG6 EXON Missense_L453V exm65561 1 63902603 [T/G] NM_013339 ALG6 EXON Missense_C479F exm65562 1 63902609 [A/G] NM_013339 ALG6 EXON Missense_N481S exm65564 1 63902632 [T/G] NM_013339 ALG6 EXON Missense_F489V exm65582 1 63920635 [T/C] NR_045147,NM_001206739,NM_014288 ITGB3BP,ITGB3BP,ITGB3BP EXON Silent,Missense_M126V,Missense_M87V exm65593 1 63974241 [A/G] NR_045147,NM_001206739,NM_014288 ITGB3BP,ITGB3BP,ITGB3BP EXON Silent,Synonymous_S41S,Synonymous_P2P exm65608 1 63991322 [A/T] NM_032437 EFCAB7 EXON Missense_F27I exm65609 1 63991328 [G/C] NM_032437 EFCAB7 EXON Missense_L29V exm65611 1 63991379 [A/G] NM_032437 EFCAB7 EXON Missense_V46I exm65623 1 63998425 [A/G] NM_032437 EFCAB7 EXON Missense_K162E exm65625 1 63999138 [A/G] NM_032437 EFCAB7 EXON Missense_Y167C exm65632 1 63999234 [C/G] NM_032437 EFCAB7 EXON Missense_G199A exm65634 1 63999258 [T/C] NM_032437 EFCAB7 EXON Missense_P207L exm65639 1 63999826 [T/C] NM_032437 EFCAB7 EXON Missense_T248I exm65641 1 63999868 [T/C] NM_032437 EFCAB7 EXON Missense_M262T exm65645 1 64011657 [A/G] NM_032437 EFCAB7 EXON Missense_Y292C exm65646 1 64011667 [T/A] NM_032437 EFCAB7 EXON Missense_Q295H exm65647 1 64011693 [T/C] NM_032437 EFCAB7 EXON Missense_L304P exm65651 1 64017419 [A/G] NM_032437 EFCAB7 EXON Missense_V324I exm65652 1 64021096 [A/G] NM_032437 EFCAB7 EXON Missense_R375K exm65659 1 64027454 [C/G] NM_032437 EFCAB7 EXON Missense_R475G exm65668 1 64034059 [A/G] NM_032437 EFCAB7 EXON Missense_G526R exm65670 1 64034086 [T/C] NM_032437 EFCAB7 EXON Missense_S535P exm65671 1 64034140 [A/G] NM_032437 EFCAB7 EXON Missense_V553M exm65675 1 64036697 [T/G] NM_032437 EFCAB7 EXON Missense_D571E exm65676 1 64036764 [A/G] NM_032437 EFCAB7 EXON Missense_I594V exm65681 1 64038174 [T/C] NM_032437 EFCAB7 EXON Missense_S626F exm65686 1 64059266 [A/C] NM_002633 PGM1 EXON Missense_A36E exm65690 1 64059403 [T/G] NM_002633 PGM1 EXON Missense_G82W exm65698 1 64089400 [T/A] NM_002633,NM_001172819,NM_001172818 PGM1,PGM1,PGM1 EXON Silent,Silent,Missense_E90V exm65701 1 64089432 [A/G] NM_002633,NM_001172819,NM_001172818 PGM1,PGM1,PGM1 Silent,Silent,Silent exm65704 1 64095111 [A/G] NM_002633,NM_001172819,NM_001172818 PGM1,PGM1,PGM1 EXON Missense_I88V,Silent,Missense_I106V exm65716 1 64097343 [T/C] NM_002633,NM_001172819,NM_001172818 PGM1,PGM1,PGM1 EXON Missense_S191L,Silent,Missense_S209L exm65719 1 64097390 [C/G] NM_002633,NM_001172819,NM_001172818 PGM1,PGM1,PGM1 EXON Missense_A207P,Missense_A10P,Missense_A225P exm1858140 1 64097421 [A/G] NM_002633,NM_001172819,NM_001172818 PGM1,PGM1,PGM1 EXON Missense_R217Q,Missense_R20Q,Missense_R235Q exm65721 1 64097432 [T/C] NM_002633,NM_001172819,NM_001172818 PGM1,PGM1,PGM1 EXON Missense_R221C,Missense_R24C,Missense_R239C exm65742 1 64104430 [T/C] NM_002633,NM_001172819,NM_001172818 PGM1,PGM1,PGM1 EXON Missense_A368V,Missense_A171V,Missense_A386V exm65743 1 64104434 [A/C] NM_002633,NM_001172819,NM_001172818 PGM1,PGM1,PGM1 EXON Missense_S369R,Missense_S172R,Missense_S387R exm65746 1 64104470 [T/C] NM_002633,NM_001172819,NM_001172818 PGM1,PGM1,PGM1 EXON Synonymous_T381T,Synonymous_T184T,Synonymous_T399T exm-rs2269241 1 64108771 [T/C] NM_002633,NM_001172819,NM_001172818 PGM1,PGM1,PGM1 Silent,Silent,Silent exm65756 1 64114301 [T/C] NM_002633,NM_001172819,NM_001172818 PGM1,PGM1,PGM1 EXON Missense_Y420H,Missense_Y223H,Missense_Y438H exm65762 1 64117459 [A/C] NM_002633,NM_001172819,NM_001172818 PGM1,PGM1,PGM1 EXON Missense_T467N,Missense_T270N,Missense_T485N exm65770 1 64120039 [A/G] NM_002633,NM_001172819,NM_001172818 PGM1,PGM1,PGM1 EXON Missense_V501I,Missense_V304I,Missense_V519I exm65774 1 64120111 [A/G] NM_002633,NM_001172819,NM_001172818 PGM1,PGM1,PGM1 EXON Missense_V525I,Missense_V328I,Missense_V543I exm65782 1 64125320 [T/C] NM_002633,NM_001172819,NM_001172818 PGM1,PGM1,PGM1 EXON Missense_R555C,Missense_R358C,Missense_R573C exm-rs2749097 1 64127468 [G/C] exm2252590 1 64165243 [A/C] exm2265015 1 64277035 [A/G] NM_001083592,NM_005012 ROR1,ROR1 Silent,Silent exm65789 1 64475021 [T/C] NM_001083592,NM_005012 ROR1,ROR1 EXON Missense_W46R,Missense_W46R exm65825 1 64608204 [A/G] NM_001083592,NM_005012 ROR1,ROR1 EXON Missense_A349T,Missense_A349T exm65828 1 64608211 [A/G] NM_001083592,NM_005012 ROR1,ROR1 EXON Missense_R351H,Missense_R351H exm2264847 1 64615775 [A/G] NM_005012 ROR1 Silent exm65841 1 64624768 [A/G] NM_005012 ROR1 EXON Missense_V427I exm65842 1 64624796 [T/C] NM_005012 ROR1 EXON Missense_S436L exm65845 1 64624816 [T/C] NM_005012 ROR1 EXON Missense_P443S exm65848 1 64643144 [T/C] NM_005012 ROR1 EXON Missense_R474C exm65849 1 64643145 [A/G] NM_005012 ROR1 EXON Missense_R474H exm65852 1 64643277 [T/C] NM_005012 ROR1 EXON Missense_T518M exm65855 1 64643363 [T/C] NM_005012 ROR1 EXON Missense_P547S exm65874 1 64643793 [T/C] NM_005012 ROR1 EXON Missense_L690P exm65877 1 64643954 [A/G] NM_005012 ROR1 EXON Missense_V744I exm65904 1 64676452 [T/C] NM_152489 UBE2U EXON Missense_I90T exm65907 1 64680581 [A/C] NM_152489 UBE2U EXON Missense_R141S exm65911 1 64686577 [T/C] NM_152489 UBE2U EXON Missense_R165C exm65916 1 64707395 [T/A] NM_152489 UBE2U EXON Missense_H219L exm2260550 1 65000767 [T/C] NM_020925 CACHD1 Silent exm65930 1 65016278 [A/G] NM_020925 CACHD1 EXON Missense_R16Q exm65935 1 65047870 [A/G] NM_020925 CACHD1 EXON Missense_R47H exm65942 1 65068550 [A/G] NM_020925 CACHD1 EXON Missense_T107A exm65959 1 65098362 [T/C] NM_020925 CACHD1 EXON Missense_T191I exm1860409 1 65099758 [A/G] NM_020925 CACHD1 EXON Missense_R223Q exm65981 1 65113552 [A/G] NM_020925 CACHD1 EXON Missense_G358S exm2252614 1 65113680 [T/C] NM_020925 CACHD1 EXON Synonymous_A400A exm66003 1 65119549 [A/G] NM_020925 CACHD1 EXON Missense_R499Q exm66009 1 65124398 [T/C] NM_020925 CACHD1 EXON Missense_T547I exm66024 1 65130217 [A/G] NM_020925 CACHD1 EXON Missense_V660I exm66025 1 65130249 [A/G] NM_020925 CACHD1 EXON Missense_M670I exm1860516 1 65130296 [A/G] NM_020925 CACHD1 EXON Missense_N686S exm66034 1 65131780 [A/G] NM_020925 CACHD1 EXON Missense_T722A exm66050 1 65139130 [T/C] NM_020925 CACHD1 EXON Missense_F853L exm66052 1 65139146 [T/C] NM_020925 CACHD1 EXON Missense_A858V exm66063 1 65142603 [A/G] NM_020925 CACHD1 EXON Missense_E950K exm66066 1 65143877 [T/C] NM_020925 CACHD1 EXON Missense_M992T exm66073 1 65145283 [A/G] NM_020925 CACHD1 EXON Missense_E1033K exm66081 1 65145386 [A/G] NM_020925 CACHD1 EXON Missense_R1067H exm66082 1 65145421 [A/T] NM_020925 CACHD1 EXON Missense_S1079T exm66087 1 65147013 [A/G] NM_020925 CACHD1 EXON Missense_G1109D exm66101 1 65157122 [T/C] NM_020925 CACHD1 EXON Missense_P1184S exm66102 1 65157126 [A/G] NM_020925 CACHD1 EXON Missense_Q1185R exm66106 1 65157212 [A/G] NM_020925 CACHD1 EXON Missense_V1214I exm66108 1 65157225 [C/G] NM_020925 CACHD1 EXON Missense_T1218S exm2252617 1 65186794 [A/G] exm2252619 1 65243316 [T/C] NM_018211 RAVER2 EXON Synonymous_T109T exm66118 1 65243425 [A/G] NM_018211 RAVER2 EXON Missense_I146V exm66121 1 65243477 [A/G] NM_018211 RAVER2 EXON Missense_R163H exm66145 1 65255129 [A/G] NM_018211 RAVER2 EXON Missense_S346N exm66163 1 65273018 [T/C] NM_018211 RAVER2 EXON Missense_T501M exm66164 1 65273026 [A/G] NM_018211 RAVER2 EXON Missense_M504V exm66166 1 65273077 [A/G] NM_018211 RAVER2 EXON Missense_N521D exm66170 1 65278472 [T/C] NM_018211 RAVER2 EXON Missense_R565W exm66172 1 65280459 [A/G] NM_018211 RAVER2 EXON Missense_S609N exm66205 1 65305287 [A/G] NM_002227 JAK1 EXON Synonymous_D947D exm66213 1 65307190 [T/C] NM_002227 JAK1 EXON Missense_N833S exm2233721 1 65312341 [T/C] NM_002227 JAK1 EXON Missense_D660N exm66228 1 65312368 [T/C] NM_002227 JAK1 EXON Missense_V651M exm66238 1 65321324 [A/G] NM_002227 JAK1 EXON Missense_R506C exm66249 1 65330499 [T/C] NM_002227 JAK1 EXON Missense_S383G exm66250 1 65330568 [A/G] NM_002227 JAK1 EXON Missense_R360W exm2252624 1 65339122 [A/G] NM_002227 JAK1 EXON Synonymous_Y138Y exm66280 1 65348981 [T/C] NM_002227 JAK1 EXON Missense_I62V exm66282 1 65349065 [G/C] NM_002227 JAK1 EXON Missense_P34A exm-rs310199 1 65350122 [A/G] NM_002227 JAK1 Silent exm2260561 1 65608909 [A/G] exm2264849 1 65678454 [A/G] NM_203464,NM_001005353,NM_013410 AK4,AK4,AK4 Silent,Silent,Silent exm66355 1 65852538 [A/G] NM_001256865,NM_014787,NM_001256864 DNAJC6,DNAJC6,DNAJC6 EXON Missense_I277V,Missense_I290V,Missense_I347V exm66357 1 65852556 [A/G] NM_001256865,NM_014787,NM_001256864 DNAJC6,DNAJC6,DNAJC6 EXON Missense_V283M,Missense_V296M,Missense_V353M exm66358 1 65852569 [T/C] NM_001256865,NM_014787,NM_001256864 DNAJC6,DNAJC6,DNAJC6 EXON Missense_M287T,Missense_M300T,Missense_M357T exm66373 1 65855298 [T/C] NM_001256865,NM_014787,NM_001256864 DNAJC6,DNAJC6,DNAJC6 EXON Missense_L416F,Missense_L429F,Missense_L486F exm66375 1 65858137 [A/T] NM_001256865,NM_014787,NM_001256864 DNAJC6,DNAJC6,DNAJC6 EXON Missense_C428S,Missense_C441S,Missense_C498S exm66379 1 65858222 [A/G] NM_001256865,NM_014787,NM_001256864 DNAJC6,DNAJC6,DNAJC6 EXON Missense_N456S,Missense_N469S,Missense_N526S exm66388 1 65858360 [T/C] NM_001256865,NM_014787,NM_001256864 DNAJC6,DNAJC6,DNAJC6 EXON Missense_A502V,Missense_A515V,Missense_A572V exm66389 1 65858368 [C/G] NM_001256865,NM_014787,NM_001256864 DNAJC6,DNAJC6,DNAJC6 EXON Missense_P505A,Missense_P518A,Missense_P575A exm66393 1 65858462 [A/C] NM_001256865,NM_014787,NM_001256864 DNAJC6,DNAJC6,DNAJC6 EXON Missense_H536P,Missense_H549P,Missense_H606P exm66411 1 65864561 [T/C] NM_001256865,NM_014787,NM_001256864 DNAJC6,DNAJC6,DNAJC6 EXON Missense_P632S,Missense_P645S,Missense_P702S exm66416 1 65867495 [T/C] NM_001256865,NM_014787,NM_001256864 DNAJC6,DNAJC6,DNAJC6 EXON Missense_S650L,Missense_S663L,Missense_S720L exm66418 1 65867519 [A/G] NM_001256865,NM_014787,NM_001256864 DNAJC6,DNAJC6,DNAJC6 EXON Missense_S658N,Missense_S671N,Missense_S728N exm66423 1 65871579 [T/A] NM_001256865,NM_014787,NM_001256864 DNAJC6,DNAJC6,DNAJC6 EXON Missense_T682S,Missense_T695S,Missense_T752S exm66431 1 65871793 [A/G] NM_001256865,NM_014787,NM_001256864 DNAJC6,DNAJC6,DNAJC6 EXON Missense_R753H,Missense_R766H,Missense_R823H exm66432 1 65871805 [T/C] NM_001256865,NM_014787,NM_001256864 DNAJC6,DNAJC6,DNAJC6 EXON Missense_S757L,Missense_S770L,Missense_S827L exm66442 1 65877013 [T/G] NM_001256865,NM_014787,NM_001256864 DNAJC6,DNAJC6,DNAJC6 EXON Missense_E835D,Missense_E848D,Missense_E905D exm66454 1 65891031 [T/G] NM_017526,NM_001198683,NM_001003679,NM_001003680,NM_002303,NM_001198681 LEPROT,LEPROT,LEPR,LEPR,LEPR,LEPROT EXON Missense_L21R,Missense_L21R,Silent,Silent,Silent,Missense_L30R exm66458 1 65895599 [T/G] NM_017526,NM_001003679,NM_001003680,NM_002303,NM_001198681 LEPROT,LEPR,LEPR,LEPR,LEPROT EXON Missense_H49Q,Silent,Silent,Silent,Missense_H58Q exm66460 1 65895651 [T/C] NM_017526,NM_001003679,NM_001003680,NM_002303,NM_001198681 LEPROT,LEPR,LEPR,LEPR,LEPROT EXON Missense_R67W,Silent,Silent,Silent,Missense_R76W exm-rs1751492 1 65992625 [T/C] NM_001003679,NM_001003680,NM_002303,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR Silent,Silent,Silent,Silent,Silent,Silent exm66477 1 66036441 [A/G] NM_001003679,NM_001003680,NM_002303,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR EXON Missense_K109R,Missense_K109R,Missense_K109R,Missense_K109R,Missense_K109R,Missense_K109R exm66480 1 66038009 [A/G] NM_001003679,NM_001003680,NM_002303,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR EXON Missense_D124G,Missense_D124G,Missense_D124G,Missense_D124G,Missense_D124G,Missense_D124G exm66482 1 66038068 [T/G] NM_001003679,NM_001003680,NM_002303,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR EXON Missense_V144L,Missense_V144L,Missense_V144L,Missense_V144L,Missense_V144L,Missense_V144L exm66493 1 66058456 [A/G] NM_001003679,NM_001003680,NM_002303,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR EXON Missense_K204R,Missense_K204R,Missense_K204R,Missense_K204R,Missense_K204R,Missense_K204R exm66498 1 66058503 [A/G] NM_001003679,NM_001003680,NM_002303,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR EXON Missense_V220I,Missense_V220I,Missense_V220I,Missense_V220I,Missense_V220I,Missense_V220I exm66499 1 66058513 [A/G] NM_001003679,NM_001003680,NM_002303,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR EXON Missense_Q223R,Missense_Q223R,Missense_Q223R,Missense_Q223R,Missense_Q223R,Missense_Q223R exm66509 1 66067110 [A/G] NM_001003679,NM_001003680,NM_002303,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR EXON Missense_V344I,Missense_V344I,Missense_V344I,Missense_V344I,Missense_V344I,Missense_V344I exm66515 1 66067326 [T/C] NM_001003679,NM_001003680,NM_002303,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR EXON Missense_H416Y,Missense_H416Y,Missense_H416Y,Missense_H416Y,Missense_H416Y,Missense_H416Y exm66526 1 66070891 [T/C] NM_001003679,NM_001003680,NM_002303,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR EXON Missense_P525L,Missense_P525L,Missense_P525L,Missense_P525L,Missense_P525L,Missense_P525L exm66528 1 66074545 [T/G] NM_001003679,NM_001003680,NM_002303,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR EXON Missense_Q571H,Missense_Q571H,Missense_Q571H,Missense_Q571H,Missense_Q571H,Missense_Q571H exm1863137 1 66075690 [T/G] NM_001003679,NM_001003680,NM_002303,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR EXON Missense_A605S,Missense_A605S,Missense_A605S,Missense_A605S,Missense_A605S,Missense_A605S exm66534 1 66075712 [A/G] NM_001003679,NM_001003680,NM_002303,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR EXON Missense_R612H,Missense_R612H,Missense_R612H,Missense_R612H,Missense_R612H,Missense_R612H exm66543 1 66081791 [T/C] NM_001003679,NM_001003680,NM_002303,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR EXON Missense_T699M,Missense_T699M,Missense_T699M,Missense_T699M,Missense_T699M,Missense_T699M exm66550 1 66083694 [A/G] NM_001003679,NM_001003680,NM_002303,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR EXON Missense_V754M,Missense_V754M,Missense_V754M,Missense_V754M,Missense_V754M,Missense_V754M exm66552 1 66083782 [T/C] NM_001003679,NM_001003680,NM_002303,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR EXON Missense_I783T,Missense_I783T,Missense_I783T,Missense_I783T,Missense_I783T,Missense_I783T exm-rs6700896 1 66089782 [T/C] NM_001003679,NM_001003680,NM_002303,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR Silent,Silent,Silent,Silent,Silent,Silent exm66572 1 66101898 [A/G] NM_002303 LEPR EXON Missense_I900V exm66590 1 66102447 [A/G] NM_002303 LEPR EXON Missense_T1083A exm66603 1 66102679 [T/C] NM_002303 LEPR EXON Missense_M1160T exm-rs1892534 1 66105944 [T/C] exm-rs4420065 1 66161461 [T/C] exm-rs12753193 1 66169679 [A/G] exm-rs10493389 1 66310865 [T/C] NM_001037341,NM_002600 PDE4B,PDE4B Silent,Silent exm2252660 1 66339048 [T/C] NM_001037341,NM_002600 PDE4B,PDE4B Silent,Silent exm66612 1 66458614 [A/G] NM_001037341,NM_002600,NM_001037340 PDE4B,PDE4B,PDE4B EXON Silent,Silent,Missense_E9K exm66614 1 66458661 [C/G] NM_001037341,NM_002600,NM_001037340 PDE4B,PDE4B,PDE4B EXON Silent,Silent,Missense_E24D exm66617 1 66458762 [A/T] NM_001037341,NM_002600,NM_001037340 PDE4B,PDE4B,PDE4B EXON Silent,Silent,Missense_F58Y exm2252665 1 66509014 [A/C] NM_001037341,NM_002600,NM_001037340 PDE4B,PDE4B,PDE4B Silent,Silent,Silent exm2268897 1 66714584 [T/G] NM_001037341,NM_002600,NM_001037340 PDE4B,PDE4B,PDE4B Silent,Silent,Silent exm2275457 1 66798124 [A/G] NM_001037341,NM_002600,NM_001037340,NM_001037339 PDE4B,PDE4B,PDE4B,PDE4B EXON Silent,Silent,Silent,Missense_G18S exm66704 1 66838203 [A/G] NM_001037341,NM_002600,NM_001037340,NM_001037339 PDE4B,PDE4B,PDE4B,PDE4B EXON Missense_D685N,Missense_D685N,Missense_D670N,Missense_D513N exm66706 1 66838257 [A/T] NM_001037341,NM_002600,NM_001037340,NM_001037339 PDE4B,PDE4B,PDE4B,PDE4B EXON Missense_S703C,Missense_S703C,Missense_S688C,Missense_S531C exm66707 1 66838270 [T/C] NM_001037341,NM_002600,NM_001037340,NM_001037339 PDE4B,PDE4B,PDE4B,PDE4B EXON Missense_T707M,Missense_T707M,Missense_T692M,Missense_T535M exm1865410 1 66838314 [A/G] NM_001037341,NM_002600,NM_001037340,NM_001037339 PDE4B,PDE4B,PDE4B,PDE4B EXON Missense_T722A,Missense_T722A,Missense_T707A,Missense_T550A exm66716 1 67091560 [G/C] NM_032291 SGIP1 EXON Missense_G14A exm66728 1 67108538 [A/G] NM_032291 SGIP1 EXON Missense_E92K exm66733 1 67109277 [G/C] NM_032291 SGIP1 EXON Missense_E112Q exm66735 1 67109335 [A/G] NM_032291 SGIP1 EXON Missense_K131R exm-rs11208940 1 67127242 [A/G] NM_032291 SGIP1 Silent exm66750 1 67133217 [A/G] NM_032291 SGIP1 EXON Missense_R159H exm66774 1 67147659 [A/G] NM_032291 SGIP1 EXON Missense_A308T exm66776 1 67147696 [T/C] NM_032291 SGIP1 EXON Missense_P320L exm66798 1 67148026 [T/C] NM_032291 SGIP1 EXON Missense_S430L exm1867076 1 67155874 [C/G] NM_032291 SGIP1 EXON Missense_S482C exm2252709 1 67160602 [A/G] NM_032291 SGIP1 Silent exm66821 1 67161137 [A/G] NM_032291 SGIP1 EXON Missense_V531I exm66839 1 67199543 [A/G] NM_032291 SGIP1 EXON Missense_V671I exm66848 1 67205174 [A/G] NM_032291 SGIP1 EXON Missense_D730N exm66873 1 67220450 [T/C] NM_152665 TCTEX1D1 EXON Missense_R37C exm66875 1 67236097 [A/T] NM_152665 TCTEX1D1 EXON Missense_E49D exm66878 1 67236126 [A/G] NM_152665 TCTEX1D1 EXON Missense_R59H exm66887 1 67242087 [A/G] NM_152665 TCTEX1D1 Silent exm66889 1 67243024 [A/C] NM_152665 TCTEX1D1 EXON Missense_L143I exm66896 1 67263817 [C/G] NM_005478 INSL5 EXON Missense_G96A exm66898 1 67263829 [T/C] NM_005478 INSL5 EXON Missense_R92H exm1867627 1 67263856 [A/G] NM_005478 INSL5 EXON Missense_P83L exm66900 1 67263892 [T/C] NM_005478 INSL5 EXON Missense_R71H exm66905 1 67266756 [T/A] NM_005478 INSL5 EXON Missense_Q50L exm1867633 1 67266798 [A/G] NM_005478 INSL5 EXON Missense_T36I exm66910 1 67266823 [A/G] NM_005478 INSL5 EXON Missense_L28F exm66911 1 67266824 [T/A] NM_005478 INSL5 EXON Missense_R27S exm66913 1 67266844 [A/G] NM_005478 INSL5 EXON Missense_R21W exm66915 1 67266874 [A/G] NM_005478 INSL5 EXON Missense_F11L exm66917 1 67279835 [A/G] NM_024763 WDR78 EXON Missense_S842F exm66924 1 67288045 [T/C] NM_024763 WDR78 EXON Missense_R832Q exm66930 1 67292502 [T/C] NM_024763 WDR78 Silent exm66931 1 67292503 [A/G] NM_024763 WDR78 EXON Missense_T780I exm66935 1 67292545 [T/G] NM_024763 WDR78 EXON Missense_A766E exm66937 1 67292585 [T/C] NM_024763 WDR78 EXON Missense_V753I exm66947 1 67292666 [A/C] NM_024763 WDR78 EXON Missense_D726Y exm66948 1 67292706 [A/C] NM_024763 WDR78 EXON Missense_W712C exm66950 1 67293494 [A/C] NM_024763 WDR78 Silent exm66952 1 67293528 [T/A] NM_024763 WDR78 EXON Missense_N693K exm66955 1 67293582 [G/C] NM_024763 WDR78 EXON Missense_I675M exm66958 1 67299305 [T/C] NM_024763 WDR78 EXON Missense_R659Q exm66974 1 67303346 [T/C] NM_024763,NM_207014 WDR78,WDR78 EXON Silent,Missense_K543R exm66977 1 67303430 [T/C] NM_024763,NM_207014 WDR78,WDR78 EXON Missense_R515K,Missense_R515K exm66979 1 67303460 [T/G] NM_024763,NM_207014 WDR78,WDR78 EXON Missense_Y505S,Missense_Y505S exm66981 1 67306176 [T/G] NM_024763,NM_207014 WDR78,WDR78 EXON Missense_S490R,Missense_S490R exm66991 1 67313187 [T/C] NM_024763,NM_207014 WDR78,WDR78 EXON Missense_R424H,Missense_R424H exm66994 1 67313256 [T/G] NM_024763,NM_207014 WDR78,WDR78 EXON Missense_H401P,Missense_H401P exm66997 1 67313343 [A/G] NM_024763,NM_207014 WDR78,WDR78 EXON Missense_L372P,Missense_L372P exm66998 1 67313349 [G/C] NM_024763,NM_207014 WDR78,WDR78 EXON Missense_S370T,Missense_S370T exm2252724 1 67327894 [A/G] NM_024763,NM_207014 WDR78,WDR78 EXON Synonymous_S344S,Synonymous_S344S exm67003 1 67327894 [A/G] NM_024763,NM_207014 WDR78,WDR78 EXON Synonymous_S344S,Synonymous_S344S exm67010 1 67337145 [T/C] NM_024763,NM_207014 WDR78,WDR78 EXON Missense_N283S,Missense_N283S exm67013 1 67356893 [A/G] NM_024763,NM_207014 WDR78,WDR78 EXON Missense_I196T,Missense_I196T exm67018 1 67359042 [T/G] NM_024763,NM_207014 WDR78,WDR78 EXON Missense_P134T,Missense_P134T exm67019 1 67359053 [T/C] NM_024763,NM_207014 WDR78,WDR78 EXON Missense_Y130C,Missense_Y130C exm67024 1 67370946 [T/C] NM_024763,NM_207014 WDR78,WDR78 EXON Missense_V95M,Missense_V95M exm67027 1 67370978 [T/G] NM_024763,NM_207014 WDR78,WDR78 EXON Missense_A84E,Missense_A84E exm67033 1 67390438 [T/C] NM_024763,NM_207014 WDR78,WDR78 EXON Missense_G26D,Missense_G26D exm67057 1 67424637 [A/G] NM_001077700,NM_001077703,NM_020948,NM_001146112,NM_001077702,NM_001146113,NM_001146111,NM_001146110,NM_001077701,NM_001077704 MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1 EXON Missense_R202H,Missense_R202H,Missense_R166H,Missense_R122H,Missense_R166H,Missense_R86H,Missense_R166H,Missense_R166H,Missense_R149H,Missense_R149H exm67080 1 67450263 [T/C] NM_001077700,NM_001077703,NM_020948,NM_001146112,NM_001077702,NM_001146113,NM_001146111,NM_001146110,NM_001077701,NM_001077704 MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1 EXON Missense_S460P,Missense_S460P,Missense_S424P,Missense_S380P,Missense_S424P,Missense_S344P,Missense_S424P,Missense_S424P,Missense_S407P,Missense_S407P exm67083 1 67450334 [A/G] NM_001077700,NM_001077703,NM_020948,NM_001146112,NM_001077702,NM_001146113,NM_001146111,NM_001146110,NM_001077701,NM_001077704 MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1 EXON Synonymous_T483T,Silent,Synonymous_T447T,Synonymous_T403T,Silent,Silent,Synonymous_T447T,Synonymous_T447T,Synonymous_T430T,Silent exm67089 1 67450431 [A/G] NM_001077700,NM_001077703,NM_020948,NM_001146112,NM_001077702,NM_001146113,NM_001146111,NM_001146110,NM_001077701,NM_001077704 MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1 EXON Missense_R516G,Silent,Missense_R480G,Missense_R436G,Silent,Silent,Silent,Missense_R480G,Missense_R463G,Silent exm67097 1 67452140 [A/G] NM_001077700,NM_001077703,NM_020948,NM_001146112,NM_001077702,NM_001146113,NM_001146111,NM_001146110,NM_001077701,NM_001077704 MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1 EXON Silent,Missense_N482S,Silent,Silent,Missense_N446S,Missense_N366S,Missense_N466S,Silent,Silent,Missense_N429S exm67102 1 67486092 [T/C] NM_015139 SLC35D1 EXON Missense_Y279C exm67104 1 67486114 [T/C] NM_015139 SLC35D1 EXON Missense_A272T exm67106 1 67486131 [T/C] NM_015139 SLC35D1 Silent exm1868328 1 67507941 [T/C] NM_015139 SLC35D1 EXON Missense_Y236C exm67117 1 67512998 [T/C] NM_015139 SLC35D1 EXON Missense_V196I exm67130 1 67518477 [A/G] NM_015139 SLC35D1 EXON Missense_L101F exm67132 1 67518534 [T/C] NM_015139 SLC35D1 EXON Missense_A82T exm67133 1 67518665 [A/T] NM_015139 SLC35D1 EXON Missense_S71T exm67150 1 67558756 [T/C] NM_001276351,NM_001013674,NM_001276352,NR_075077 C1orf141,C1orf141,C1orf141,C1orf141 EXON Missense_E379K,Missense_E379K,Silent,Silent exm67152 1 67558858 [T/C] NM_001276351,NM_001013674,NM_001276352,NR_075077 C1orf141,C1orf141,C1orf141,C1orf141 EXON Missense_G345R,Missense_G345R,Silent,Silent exm67156 1 67559041 [T/C] NM_001276351,NM_001013674,NM_001276352,NR_075077 C1orf141,C1orf141,C1orf141,C1orf141 EXON Missense_M284V,Missense_M284V,Silent,Silent exm67171 1 67560956 [T/C] NM_001276351,NM_001013674,NM_001276352,NR_075077 C1orf141,C1orf141,C1orf141,C1orf141 EXON Missense_V189I,Missense_V189I,Silent,Silent exm67184 1 67561087 [A/C] NM_001276351,NM_001013674,NM_001276352,NR_075077 C1orf141,C1orf141,C1orf141,C1orf141 EXON Missense_M145R,Missense_M145R,Silent,Silent exm67186 1 67561090 [T/C] NM_001276351,NM_001013674,NM_001276352,NR_075077 C1orf141,C1orf141,C1orf141,C1orf141 EXON Missense_Q144R,Missense_Q144R,Silent,Silent exm67190 1 67562003 [A/G] NM_001276351,NM_001013674,NM_001276352,NR_075077 C1orf141,C1orf141,C1orf141,C1orf141 EXON Synonymous_A116A,Synonymous_A116A,Synonymous_A187A,Silent exm67196 1 67581127 [T/C] NM_001276351,NM_001013674,NM_001276352,NR_075077 C1orf141,C1orf141,C1orf141,C1orf141 EXON Missense_E85G,Missense_E85G,Missense_E85G,Silent exm67198 1 67591496 [T/C] NM_001276351,NM_001013674,NM_001276352,NR_075077 C1orf141,C1orf141,C1orf141,C1orf141 EXON Missense_A58T,Missense_A58T,Missense_A58T,Silent exm-rs11209003 1 67601132 [T/G] exm67204 1 67633812 [T/G] NM_144701 IL23R EXON Missense_Q3H exm67218 1 67635211 [A/G] NM_144701 IL23R EXON Missense_R86Q exm67221 1 67648596 [A/G] NM_144701 IL23R EXON Missense_G149R exm67222 1 67648625 [T/C] NM_144701 IL23R EXON Synonymous_Y158Y exm2252741 1 67648625 [T/C] NM_144701 IL23R EXON Synonymous_Y158Y exm67223 1 67648630 [T/C] NM_144701 IL23R EXON Missense_V160A exm2252742 1 67654110 [A/G] NM_144701 IL23R Silent exm67229 1 67666507 [T/G] NM_144701 IL23R EXON Missense_L193F exm67230 1 67666524 [T/C] NM_144701 IL23R EXON Missense_A199V exm-rs11805303 1 67675516 [T/C] NM_144701 IL23R Silent exm-rs7517847 1 67681669 [T/G] NM_144701 IL23R Silent exm67244 1 67685387 [T/C] NM_144701 IL23R EXON Missense_L310P exm-rs2201841 1 67694202 [A/G] NM_144701 IL23R Silent exm-rs11465804 1 67702526 [T/G] NM_144701 IL23R Silent exm67253 1 67705900 [A/G] NM_144701 IL23R EXON Missense_V362I exm67254 1 67705958 [A/G] NM_144701 IL23R EXON Missense_R381Q exm67263 1 67724382 [A/C] NM_144701 IL23R EXON Missense_Q487H exm-rs10889677 1 67725120 [A/C] NM_144701 IL23R EXON Silent exm-rs924080 1 67760140 [T/C] exm67275 1 67786061 [A/G] NM_001559,NM_001258215,NM_001258214,NR_047583,NM_001258216,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 EXON Missense_T4A,Missense_T4A,Missense_T4A,Silent,Missense_T4A,Silent exm67276 1 67786066 [A/T] NM_001559,NM_001258215,NM_001258214,NR_047583,NM_001258216,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 EXON Missense_F5L,Missense_F5L,Missense_F5L,Silent,Missense_F5L,Silent exm67277 1 67786076 [T/C] NM_001559,NM_001258215,NM_001258214,NR_047583,NM_001258216,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 EXON Missense_S9P,Missense_S9P,Missense_S9P,Silent,Missense_S9P,Silent exm67278 1 67786088 [A/G] NM_001559,NM_001258215,NM_001258214,NR_047583,NM_001258216,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 EXON Missense_M13V,Missense_M13V,Missense_M13V,Silent,Missense_M13V,Silent exm67282 1 67787286 [T/C] NM_001559,NM_001258215,NM_001258214,NR_047583,NM_001258216,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 EXON Synonymous_D26D,Synonymous_D26D,Synonymous_D26D,Silent,Synonymous_D26D,Silent exm67289 1 67787353 [A/G] NM_001559,NM_001258215,NM_001258214,NR_047583,NM_001258216,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 EXON Missense_I49V,Missense_I49V,Missense_I49V,Silent,Missense_I49V,Silent exm67296 1 67787420 [A/G] NM_001559,NM_001258215,NM_001258214,NR_047583,NM_001258216,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 EXON Missense_Y71C,Missense_Y71C,Missense_Y71C,Silent,Missense_Y71C,Silent exm67297 1 67787434 [A/G] NM_001559,NM_001258215,NM_001258214,NR_047583,NM_001258216,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 EXON Missense_R76G,Missense_R76G,Missense_R76G,Silent,Missense_R76G,Silent exm67298 1 67792499 [A/G] NM_001559,NM_001258215,NM_001258214,NR_047583,NM_001258216,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 EXON Missense_R149Q,Missense_R149Q,Missense_R149Q,Silent,Missense_R149Q,Silent exm2233759 1 67793935 [A/T] NM_001559,NM_001258215,NM_001258214,NR_047583,NM_001258216,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 EXON Missense_C178S,Missense_C178S,Missense_C178S,Silent,Missense_C178S,Silent exm1869053 1 67796346 [T/A] NM_001559,NM_001258215,NM_001258214,NR_047583,NM_001258216,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 EXON Missense_N271Y,Missense_N271Y,Missense_N271Y,Silent,Missense_N271Y,Silent exm67320 1 67796454 [A/G] NM_001559,NM_001258215,NM_001258214,NR_047583,NM_001258216,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 EXON Missense_D307N,Missense_D307N,Missense_D307N,Silent,Missense_D307N,Silent exm67321 1 67796490 [A/G] NM_001559,NM_001258215,NM_001258214,NR_047583,NM_001258216,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 EXON Missense_E319K,Missense_E319K,Missense_E319K,Silent,Missense_E319K,Silent exm2268898 1 67800712 [T/C] NM_001559,NM_001258215,NM_001258214,NR_047583,NM_001258216,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 Silent,Silent,Silent,Silent,Silent,Silent exm67324 1 67804336 [T/A] NM_001559,NM_001258215,NM_001258214,NR_047583,NM_001258216,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 EXON Missense_M330L,Missense_M330L,Missense_M330L,Silent,Missense_M330L,Silent exm67325 1 67804355 [A/G] NM_001559,NM_001258215,NM_001258214,NR_047583,NM_001258216,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 EXON Missense_Y336C,Missense_Y336C,Missense_Y336C,Silent,Missense_Y336C,Silent exm67327 1 67816631 [A/G] NM_001559,NM_001258215,NM_001258214,NR_047583,NM_001258216,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 EXON Missense_M373V,Missense_M373V,Missense_M373V,Silent,Missense_M373V,Silent exm67328 1 67816685 [A/G] NM_001559,NM_001258215,NM_001258214,NR_047583,NM_001258216,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 EXON Missense_G391R,Missense_G391R,Missense_G391R,Silent,Missense_G391R,Silent exm67329 1 67816689 [A/T] NM_001559,NM_001258215,NM_001258214,NR_047583,NM_001258216,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 EXON Missense_N392I,Missense_N392I,Missense_N392I,Silent,Missense_N392I,Silent exm67331 1 67816701 [T/C] NM_001559,NM_001258215,NM_001258214,NR_047583,NM_001258216,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 EXON Missense_A396V,Missense_A396V,Missense_A396V,Silent,Missense_A396V,Silent exm67336 1 67816772 [A/G] NM_001559,NM_001258215,NM_001258214,NR_047583,NM_001258216,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 EXON Missense_G420R,Missense_G420R,Missense_G420R,Silent,Missense_G420R,Silent exm-rs3790567 1 67822377 [A/G] NM_001559,NM_001258215,NM_001258214,NR_047583,NM_001258216,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 Silent,Silent,Silent,Silent,Silent,Silent exm67342 1 67833527 [C/G] NM_001559,NM_001258215,NM_001258214,NR_047583,NM_001258216,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 EXON Missense_Q426H,Missense_Q426H,Missense_Q426H,Silent,Missense_Q426H,Silent exm67345 1 67833643 [A/G] NM_001559,NM_001258215,NM_001258214,NR_047583,NM_001258216,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 EXON Missense_G465D,Missense_G465D,Missense_G465D,Silent,Missense_G465D,Silent exm67349 1 67838152 [A/G] NM_001559,NM_001258215,NM_001258214,NR_047583,NM_001258216,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 EXON Missense_R498H,Silent,Missense_R498H,Silent,Missense_R498H,Silent exm67350 1 67838216 [A/T] NM_001559,NM_001258215,NM_001258214,NR_047583,NM_001258216,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 EXON Missense_K519N,Silent,Missense_K519N,Silent,Missense_K519N,Silent exm67351 1 67838217 [T/G] NM_001559,NM_001258215,NM_001258214,NR_047583,NM_001258216,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 EXON Missense_A520S,Silent,Missense_A520S,Silent,Missense_A520S,Silent exm67363 1 67852280 [T/C] NM_001559,NM_001258215,NM_001258214,NR_047583,NM_001258216,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 EXON Missense_A625V,Missense_A539V,Missense_A625V,Silent,Silent,Silent exm2252749 1 67855772 [A/G] NM_001559,NM_001258215,NM_001258214,NR_047583,NM_001258216,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 EXON Synonymous_P669P,Synonymous_P583P,Silent,Silent,Silent,Silent exm67375 1 67861276 [T/C] NM_001559,NM_001258215,NM_001258214,NR_047583,NM_001258216,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 EXON Missense_T698M,Missense_T612M,Silent,Silent,Synonymous_H634H,Silent exm67378 1 67861350 [T/A] NM_001559,NM_001258215,NM_001258214,NR_047583,NM_001258216,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 EXON Missense_C723S,Missense_C637S,Silent,Silent,Silent,Silent exm67389 1 67861690 [C/G] NM_001559,NM_001258215,NM_001258214,NR_047583,NM_001258216,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 EXON Missense_S836C,Missense_S750C,Silent,Silent,Silent,Silent exm2264852 1 68084290 [A/G] exm67467 1 68171216 [T/C] NM_018841 GNG12 EXON Missense_H46R exm67469 1 68171235 [T/C] NM_018841 GNG12 EXON Missense_M40V exm2260604 1 68428049 [T/C] NR_040077 GNG12-AS1 Silent exm67502 1 68512899 [A/C] NR_040077,NM_004675 GNG12-AS1,DIRAS3 EXON Silent,Missense_A28S exm67512 1 68564392 [G/C] NR_040077,NM_001002292 GNG12-AS1,WLS EXON Silent,Missense_V519L exm2264853 1 68603129 [A/G] NR_040077,NM_001002292,NM_024911,NM_001193334 GNG12-AS1,WLS,WLS,WLS Silent,Silent,Silent,Silent exm67526 1 68603512 [T/C] NR_040077,NM_001002292,NM_024911,NM_001193334 GNG12-AS1,WLS,WLS,WLS EXON Silent,Missense_M487I,Missense_M489I,Missense_M398I exm67529 1 68603586 [T/C] NR_040077,NM_001002292,NM_024911,NM_001193334 GNG12-AS1,WLS,WLS,WLS EXON Silent,Missense_V463I,Missense_V465I,Missense_V374I exm67530 1 68603612 [A/G] NR_040077,NM_001002292,NM_024911,NM_001193334 GNG12-AS1,WLS,WLS,WLS EXON Silent,Missense_T454M,Missense_T456M,Missense_T365M exm1871452 1 68611566 [A/G] NR_040077,NM_001002292,NM_024911,NM_001193334 GNG12-AS1,WLS,WLS,WLS EXON Silent,Missense_R420W,Missense_R422W,Missense_R331W exm67537 1 68611617 [A/G] NR_040077,NM_001002292,NM_024911,NM_001193334 GNG12-AS1,WLS,WLS,WLS EXON Silent,Missense_R403W,Missense_R405W,Missense_R314W exm67540 1 68613819 [A/G] NR_040077,NM_001002292,NM_024911,NM_001193334 GNG12-AS1,WLS,WLS,WLS EXON Silent,Synonymous_A376A,Synonymous_A378A,Synonymous_A287A exm2252792 1 68614320 [A/G] NR_040077,NM_001002292,NM_024911,NM_001193334 GNG12-AS1,WLS,WLS,WLS EXON Silent,Synonymous_I330I,Synonymous_I332I,Synonymous_I241I exm67546 1 68614330 [T/C] NR_040077,NM_001002292,NM_024911,NM_001193334 GNG12-AS1,WLS,WLS,WLS EXON Silent,Missense_R327Q,Missense_R329Q,Missense_R238Q exm67567 1 68624879 [A/G] NR_040077,NM_001002292,NM_024911,NM_001193334 GNG12-AS1,WLS,WLS,WLS EXON Silent,Missense_A142V,Missense_A144V,Missense_A53V exm2233768 1 68624921 [A/G] NR_040077,NM_001002292,NM_024911,NM_001193334 GNG12-AS1,WLS,WLS,WLS EXON Silent,Missense_A128V,Missense_A130V,Missense_A39V exm-rs1430742 1 68635075 [T/C] NR_040077,NM_001002292,NM_024911,NM_001193334 GNG12-AS1,WLS,WLS,WLS Silent,Silent,Silent,Silent exm-rs2566755 1 68635390 [T/C] NR_040077,NM_001002292,NM_024911,NM_001193334 GNG12-AS1,WLS,WLS,WLS Silent,Silent,Silent,Silent exm67576 1 68659719 [C/G] NR_040077,NM_001002292,NM_024911,NM_001193334 GNG12-AS1,WLS,WLS,WLS EXON Silent,Missense_H98D,Missense_H100D,Silent exm67586 1 68697881 [C/G] NM_001002292,NM_024911,NM_001193334 WLS,WLS,WLS EXON Missense_L34F,Missense_L34F,Missense_L34F exm67606 1 68897002 [A/G] NM_000329 RPE65 EXON Missense_A434V exm67614 1 68897202 [T/C] NM_000329 RPE65 EXON Missense_E399K exm1872588 1 68897243 [A/G] NM_000329 RPE65 EXON Missense_T385M exm67620 1 68903928 [T/G] NM_000329 RPE65 EXON Missense_A357D exm2233773 1 68904742 [T/G] NM_000329 RPE65 EXON Missense_K294T exm67628 1 68904887 [T/C] NM_000329 RPE65 EXON Missense_N282S exm67632 1 68905294 [G/C] NM_000329 RPE65 EXON Missense_I225M exm67645 1 68910315 [T/C] NM_000329 RPE65 EXON Missense_A132T exm67647 1 68910514 [T/G] NM_000329 RPE65 EXON Missense_I100L exm2252809 1 68912755 [T/C] NM_000329 RPE65 Silent exm67682 1 68944843 [T/C] NM_017779,NM_001114120 DEPDC1,DEPDC1 EXON Missense_Y415C,Missense_Y699C exm67689 1 68947133 [A/G] NM_017779,NM_001114120 DEPDC1,DEPDC1 EXON Missense_T358M,Missense_T642M exm67712 1 68948280 [A/C] NM_017779,NM_001114120 DEPDC1,DEPDC1 EXON Silent,Missense_I404R exm67719 1 68948567 [T/G] NM_017779,NM_001114120 DEPDC1,DEPDC1 EXON Silent,Nonsense_Y308X exm67720 1 68949665 [A/G] NM_017779,NM_001114120 DEPDC1,DEPDC1 EXON Missense_F293S,Missense_F293S exm1872980 1 68954662 [A/G] NM_017779,NM_001114120 DEPDC1,DEPDC1 EXON Missense_I176T,Missense_I176T exm67745 1 68962660 [A/G] NM_017779,NM_001114120 DEPDC1,DEPDC1 EXON Missense_P8L,Missense_P8L exm-rs7554119 1 68965439 [T/G] exm2260614 1 69441920 [A/C] exm-rs4147141 1 69579252 [A/G] exm-rs4650135 1 69684997 [T/C] exm2252829 1 69874609 [T/C] exm2264854 1 70297993 [A/G] NM_020794 LRRC7 Silent exm2252830 1 70300517 [T/C] NM_020794 LRRC7 EXON Synonymous_D147D exm67768 1 70300517 [T/C] NM_020794 LRRC7 EXON Synonymous_D147D exm67771 1 70303924 [A/G] NM_020794 LRRC7 EXON Missense_R164Q exm-rs12037173 1 70355981 [A/G] NM_020794 LRRC7 Silent exm67792 1 70488932 [A/G] NM_020794 LRRC7 EXON Missense_V519I exm67802 1 70501827 [T/G] NM_020794 LRRC7 EXON Missense_N635K exm67817 1 70503989 [A/G] NM_020794 LRRC7 EXON Missense_N790D exm67850 1 70504688 [A/G] NM_020794 LRRC7 EXON Missense_M1023V exm67852 1 70504781 [T/C] NM_020794 LRRC7 EXON Missense_H1054Y exm67866 1 70504985 [A/G] NM_020794 LRRC7 EXON Missense_A1122T exm67870 1 70505051 [A/G] NM_020794 LRRC7 EXON Missense_G1144S exm67871 1 70505057 [T/C] NM_020794 LRRC7 EXON Missense_P1146S exm1874165 1 70505082 [A/G] NM_020794 LRRC7 EXON Missense_R1154H exm67875 1 70505151 [T/C] NM_020794 LRRC7 EXON Missense_P1177L exm67876 1 70505178 [T/C] NM_020794 LRRC7 EXON Missense_A1186V exm2273327 1 70587581 [T/C] NM_020794 LRRC7 EXON Silent exm67909 1 70611496 [A/C] NM_017768 LRRC40 EXON Missense_R599L exm67911 1 70611540 [T/C] NM_017768 LRRC40 EXON Missense_I584M exm67922 1 70616817 [A/G] NM_017768 LRRC40 EXON Missense_F504S exm67923 1 70616830 [T/C] NM_017768 LRRC40 EXON Missense_I500V exm67930 1 70621412 [T/C] NM_017768 LRRC40 EXON Missense_I430V exm67936 1 70625071 [A/G] NM_017768 LRRC40 EXON Missense_P388S exm67940 1 70639162 [T/C] NM_017768 LRRC40 EXON Missense_R366Q exm1874191 1 70639324 [A/G] NM_017768 LRRC40 EXON Missense_I349T exm67946 1 70639372 [T/C] NM_017768 LRRC40 EXON Missense_N333S exm67949 1 70641535 [T/C] NM_017768 LRRC40 EXON Missense_R312Q exm67960 1 70644596 [A/G] NM_017768 LRRC40 EXON Missense_L248F exm67963 1 70644637 [A/G] NM_017768 LRRC40 EXON Missense_T234I exm67967 1 70646822 [T/C] NM_017768 LRRC40 EXON Missense_N203S exm67969 1 70650481 [T/C] NM_017768 LRRC40 EXON Missense_N175S exm67980 1 70654870 [T/C] NM_017768 LRRC40 EXON Missense_E80K exm2252832 1 70654895 [T/C] NM_017768 LRRC40 EXON Synonymous_S71S exm67982 1 70654895 [T/C] NM_017768 LRRC40 EXON Synonymous_S71S exm67985 1 70654950 [T/G] NM_017768 LRRC40 EXON Missense_Q53P exm67986 1 70654953 [A/G] NM_017768 LRRC40 EXON Missense_P52L exm67989 1 70671121 [A/C] NM_017768 LRRC40 EXON Missense_A35S exm67993 1 70671201 [A/G] NM_017768 LRRC40 EXON Missense_A8V exm68039 1 70715711 [T/C] NM_004768,NM_001190987 SRSF11,SRSF11 EXON Missense_R367C,Missense_R367C exm68050 1 70716373 [C/G] NM_004768,NM_001190987 SRSF11,SRSF11 EXON Missense_T447R,Missense_T446R exm68061 1 70742505 [A/G] NM_030816 ANKRD13C EXON Missense_T413I exm2265017 1 70750558 [A/G] NM_030816 ANKRD13C Silent exm68078 1 70781186 [T/C] NM_030816 ANKRD13C EXON Missense_R214Q exm68088 1 70819679 [A/C] NM_030816 ANKRD13C EXON Missense_G138V exm68096 1 70819802 [T/C] NM_030816 ANKRD13C EXON Missense_G97D exm68115 1 70820789 [T/C] NM_001036646,NM_001036645,NR_027404,NM_001031693 HHLA3,HHLA3,HHLA3,HHLA3 EXON Missense_A52V,Missense_A52V,Silent,Missense_A52V exm68116 1 70820794 [T/C] NM_001036646,NM_001036645,NR_027404,NM_001031693 HHLA3,HHLA3,HHLA3,HHLA3 EXON Silent,Missense_C54R,Silent,Missense_C54R exm68121 1 70832137 [T/C] NM_001036646,NM_001036645,NR_027404,NM_001031693 HHLA3,HHLA3,HHLA3,HHLA3 EXON Missense_T56M,Missense_R90W,Silent,Synonymous_N57N exm68122 1 70832144 [C/G] NM_001036646,NM_001036645,NR_027404,NM_001031693 HHLA3,HHLA3,HHLA3,HHLA3 EXON Missense_R58S,Missense_G92A,Silent,Missense_G60R exm68129 1 70877113 [A/C] NM_153742,NM_001902,NM_001190463 CTH,CTH,CTH EXON Missense_D5E,Missense_D5E,Missense_D5E exm68136 1 70881670 [T/C] NM_153742,NM_001902,NM_001190463 CTH,CTH,CTH EXON Missense_T67I,Missense_T67I,Missense_T67I exm68141 1 70890007 [A/G] NM_153742,NM_001902,NM_001190463 CTH,CTH,CTH EXON Silent,Missense_V166M,Missense_V134M exm68142 1 70890023 [C/G] NM_153742,NM_001902,NM_001190463 CTH,CTH,CTH EXON Silent,Missense_G171A,Missense_G139A exm68147 1 70895478 [A/G] NM_153742,NM_001902,NM_001190463 CTH,CTH,CTH EXON Missense_R153H,Missense_R197H,Missense_R165H exm68152 1 70896038 [T/C] NM_153742,NM_001902,NM_001190463 CTH,CTH,CTH EXON Missense_C185R,Missense_C229R,Missense_C197R exm1874282 1 70899534 [A/G] NM_153742,NM_001902,NM_001190463 CTH,CTH,CTH EXON Missense_E257K,Missense_E301K,Missense_E269K exm1874287 1 70904474 [A/C] NM_153742,NM_001902,NM_001190463 CTH,CTH,CTH EXON Missense_L342I,Missense_L386I,Missense_L354I exm68172 1 70904800 [T/G] NM_153742,NM_001902,NM_001190463 CTH,CTH,CTH EXON Missense_S359I,Missense_S403I,Missense_S371I exm-rs10458561 1 70921173 [A/G] exm2252833 1 70930788 [A/G] exm2252854 1 71365018 [T/C] NM_198717,NM_198716,NR_028293,NR_028294,NM_198714,NR_028292 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 Silent,Silent,Silent,Silent,Silent,Silent exm68191 1 71418672 [T/C] NM_198717,NM_198716,NR_028293,NR_028294,NM_198714,NR_028292,NM_198718,NM_001126044 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_R392H,Silent exm68197 1 71418711 [T/C] NM_198717,NM_198716,NR_028293,NR_028294,NM_198714,NR_028292,NM_198718,NM_001126044 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_Q379R,Silent exm68200 1 71418742 [A/G] NM_198717,NM_198716,NR_028293,NR_028294,NM_198714,NR_028292,NM_198718,NM_001126044 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Synonymous_L369L,Silent exm68212 1 71440025 [A/G] NM_198717,NM_198716,NR_028293,NR_028294,NM_198714,NR_028292,NM_198718,NM_001126044,NM_198719 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 EXON Silent,Silent,Silent,Silent,Missense_P375L,Silent,Silent,Missense_P375L,Missense_P375L exm68214 1 71440052 [T/C] NM_198717,NM_198716,NR_028293,NR_028294,NM_198714,NR_028292,NM_198718,NM_001126044,NM_198719 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 EXON Silent,Silent,Silent,Silent,Missense_N366S,Silent,Silent,Missense_N366S,Missense_N366S exm2233789 1 71478109 [A/G] NM_198717,NM_198716,NR_028293,NR_028294,NM_198714,NR_028292,NM_198718,NM_001126044,NM_198719,NM_198715 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 EXON Missense_T319M,Missense_T319M,Silent,Silent,Missense_T319M,Silent,Missense_T319M,Missense_T319M,Missense_T319M,Missense_T319M exm68246 1 71513137 [T/C] NM_198717,NM_198716,NR_028293,NR_028294,NM_198714,NR_028292,NM_198718,NM_001126044,NM_198719,NM_198715,NR_038420 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,ZRANB2-AS1 EXON Missense_G42R,Missense_G42R,Silent,Silent,Missense_G42R,Silent,Missense_G42R,Missense_G42R,Missense_G42R,Missense_G42R,Silent exm68248 1 71513160 [C/G] NM_198717,NM_198716,NR_028293,NR_028294,NM_198714,NR_028292,NM_198718,NM_001126044,NM_198719,NM_198715,NR_038420 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,ZRANB2-AS1 EXON Missense_R34P,Missense_R34P,Silent,Silent,Missense_R34P,Silent,Missense_R34P,Missense_R34P,Missense_R34P,Missense_R34P,Silent exm68250 1 71513163 [T/G] NM_198717,NM_198716,NR_028293,NR_028294,NM_198714,NR_028292,NM_198718,NM_001126044,NM_198719,NM_198715,NR_038420 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,ZRANB2-AS1 EXON Missense_A33E,Missense_A33E,Silent,Silent,Missense_A33E,Silent,Missense_A33E,Missense_A33E,Missense_A33E,Missense_A33E,Silent exm68256 1 71530780 [A/G] NR_038420,NM_203350,NM_005455 ZRANB2-AS1,ZRANB2,ZRANB2 EXON Silent,Missense_R324C,Silent exm68273 1 71534974 [T/C] NM_203350,NM_005455 ZRANB2,ZRANB2 EXON Missense_R252H,Missense_R252H exm68276 1 71534986 [T/C] NM_203350,NM_005455 ZRANB2,ZRANB2 EXON Missense_R248H,Missense_R248H exm1875922 1 71536564 [T/C] NM_203350,NM_005455 ZRANB2,ZRANB2 EXON Missense_H210R,Missense_H210R exm-rs6695355 1 71762203 [A/G] exm2263860 1 71849037 [A/C] exm68307 1 71873154 [T/G] NM_173808 NEGR1 EXON Missense_Y347S exm68319 1 72058610 [T/C] NM_173808 NEGR1 EXON Missense_S277N exm-rs10493485 1 72071129 [A/T] NM_173808 NEGR1 Silent exm2268705 1 72098811 [T/C] NM_173808 NEGR1 Silent exm-rs12141391 1 72274473 [A/C] NM_173808,NR_046218 NEGR1,NEGR1-IT1 Silent,Silent exm2268706 1 72410812 [T/C] NM_173808 NEGR1 Silent exm68339 1 72748084 [C/G] NM_173808 NEGR1 EXON Missense_L32V exm68344 1 72748125 [G/C] NM_173808 NEGR1 EXON Missense_A18G exm-rs2568958 1 72765116 [A/G] exm-rs2815752 1 72812440 [A/G] exm2263825 1 72954611 [A/C] exm2263861 1 73090344 [A/C] exm2264856 1 73281986 [A/G] exm2268901 1 73639751 [T/C] exm2264857 1 73882478 [A/G] exm-rs11210359 1 74339167 [A/G] exm68367 1 74492543 [A/G] NM_001105659 LRRIQ3 EXON Missense_V610A exm68374 1 74506926 [A/C] NM_001105659 LRRIQ3 EXON Missense_K563N exm68376 1 74506942 [A/G] NM_001105659 LRRIQ3 EXON Missense_A558V exm68384 1 74507042 [A/G] NM_001105659 LRRIQ3 EXON Missense_R525C exm68385 1 74507159 [T/C] NM_001105659 LRRIQ3 EXON Missense_V486I exm68387 1 74507233 [A/C] NM_001105659 LRRIQ3 EXON Missense_L461W exm68388 1 74507249 [A/C] NM_001105659 LRRIQ3 EXON Missense_A456S exm68391 1 74507315 [T/C] NM_001105659 LRRIQ3 EXON Missense_E434K exm68393 1 74507410 [T/C] NM_001105659 LRRIQ3 EXON Missense_R402Q exm68394 1 74507423 [T/C] NM_001105659 LRRIQ3 EXON Missense_I398V exm68395 1 74507450 [C/G] NM_001105659 LRRIQ3 EXON Missense_H389D exm68401 1 74540389 [T/C] NM_001105659 LRRIQ3 EXON Missense_D318G exm68403 1 74540465 [A/G] NM_001105659 LRRIQ3 EXON Missense_Y293H exm68405 1 74575139 [A/C] NM_001105659 LRRIQ3 EXON Missense_L269R exm68408 1 74575157 [T/C] NM_001105659 LRRIQ3 EXON Missense_G263E exm68413 1 74621445 [A/G] NM_001105659 LRRIQ3 EXON Missense_R227C exm68416 1 74621499 [A/T] NM_001105659 LRRIQ3 EXON Missense_I209F exm68422 1 74648257 [A/G] NM_001105659 LRRIQ3 EXON Nonsense_R180X exm68425 1 74648325 [T/C] NM_001105659 LRRIQ3 EXON Missense_H157R exm68430 1 74648403 [T/C] NM_001105659 LRRIQ3 EXON Missense_D131G exm68431 1 74648408 [T/C] NM_001105659 LRRIQ3 EXON Missense_M129I exm68433 1 74648460 [A/C] NM_001105659 LRRIQ3 EXON Nonsense_L112X exm68439 1 74649119 [T/C] NM_001105659 LRRIQ3 Silent exm68443 1 74649209 [T/C] NM_001105659 LRRIQ3 EXON Missense_V54I exm68448 1 74649321 [C/G] NM_001105659 LRRIQ3 EXON Missense_W16C exm68453 1 74663985 [A/C] NM_001199328,NM_001112808,NM_003838,NM_001199329,NM_001199327 FPGT,FPGT-TNNI3K,FPGT,FPGT,FPGT-TNNI3K EXON Missense_P8Q,Missense_P8Q,Missense_P8Q,Missense_P8Q,Missense_P8Q exm68454 1 74664011 [G/C] NM_001199328,NM_001112808,NM_003838,NM_001199329,NM_001199327 FPGT,FPGT-TNNI3K,FPGT,FPGT,FPGT-TNNI3K EXON Missense_Q17E,Missense_Q17E,Missense_Q17E,Missense_Q17E,Missense_Q17E exm68458 1 74665396 [T/C] NM_001199328,NM_001112808,NM_003838,NM_001199329,NM_001199327 FPGT,FPGT-TNNI3K,FPGT,FPGT,FPGT-TNNI3K EXON Missense_A44V,Missense_A44V,Missense_A44V,Missense_A44V,Missense_A44V exm68464 1 74665516 [G/C] NM_001199328,NM_001112808,NM_003838,NM_001199329,NM_001199327 FPGT,FPGT-TNNI3K,FPGT,FPGT,FPGT-TNNI3K Silent,Silent,Silent,Silent,Silent exm68471 1 74670081 [A/G] NM_001199328,NM_001112808,NM_003838,NM_001199329,NM_001199327 FPGT,FPGT-TNNI3K,FPGT,FPGT,FPGT-TNNI3K EXON Missense_Y117C,Silent,Missense_Y117C,Silent,Silent exm68472 1 74670089 [T/C] NM_001199328,NM_001112808,NM_003838,NM_001199329,NM_001199327 FPGT,FPGT-TNNI3K,FPGT,FPGT,FPGT-TNNI3K EXON Nonsense_R120X,Silent,Nonsense_R120X,Silent,Silent exm68476 1 74670251 [A/G] NM_001199328,NM_001112808,NM_003838,NM_001199329,NM_001199327 FPGT,FPGT-TNNI3K,FPGT,FPGT,FPGT-TNNI3K EXON Silent,Silent,Missense_S174G,Silent,Silent exm68484 1 74670359 [T/C] NM_001199328,NM_001112808,NM_003838,NM_001199329,NM_001199327 FPGT,FPGT-TNNI3K,FPGT,FPGT,FPGT-TNNI3K EXON Silent,Silent,Missense_P210S,Silent,Silent exm68486 1 74670369 [T/A] NM_001199328,NM_001112808,NM_003838,NM_001199329,NM_001199327 FPGT,FPGT-TNNI3K,FPGT,FPGT,FPGT-TNNI3K EXON Silent,Silent,Missense_D213V,Silent,Silent exm68492 1 74670617 [T/C] NM_001199328,NM_001112808,NM_003838,NM_001199329,NM_001199327 FPGT,FPGT-TNNI3K,FPGT,FPGT,FPGT-TNNI3K EXON Silent,Silent,Missense_C296R,Silent,Silent exm68504 1 74670891 [A/G] NM_001199328,NM_001112808,NM_003838,NM_001199329,NM_001199327 FPGT,FPGT-TNNI3K,FPGT,FPGT,FPGT-TNNI3K EXON Silent,Silent,Missense_S387N,Silent,Silent exm68505 1 74671034 [A/G] NM_001199328,NM_001112808,NM_003838,NM_001199329,NM_001199327 FPGT,FPGT-TNNI3K,FPGT,FPGT,FPGT-TNNI3K EXON Missense_I181V,Silent,Missense_I435V,Synonymous_A162A,Silent exm68509 1 74671074 [T/C] NM_001199328,NM_001112808,NM_003838,NM_001199329,NM_001199327 FPGT,FPGT-TNNI3K,FPGT,FPGT,FPGT-TNNI3K EXON Missense_P194L,Silent,Missense_P448L,Silent,Silent exm68511 1 74671077 [T/C] NM_001199328,NM_001112808,NM_003838,NM_001199329,NM_001199327 FPGT,FPGT-TNNI3K,FPGT,FPGT,FPGT-TNNI3K EXON Missense_A195V,Silent,Missense_A449V,Silent,Silent exm68515 1 74671275 [T/G] NM_001199328,NM_001112808,NM_003838,NM_001199329,NM_001199327 FPGT,FPGT-TNNI3K,FPGT,FPGT,FPGT-TNNI3K EXON Missense_G261V,Silent,Missense_G515V,Silent,Silent exm68517 1 74671283 [A/G] NM_001199328,NM_001112808,NM_003838,NM_001199329,NM_001199327 FPGT,FPGT-TNNI3K,FPGT,FPGT,FPGT-TNNI3K EXON Missense_T264A,Silent,Missense_T518A,Silent,Silent exm-rs520806 1 74673341 [T/C] NM_001199328,NM_001112808,NM_003838,NM_001199329,NM_001199327 FPGT,FPGT-TNNI3K,FPGT,FPGT,FPGT-TNNI3K EXON Silent,Silent,Silent,Silent,Silent exm68529 1 74701787 [A/T] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K EXON Missense_D115E,Missense_D115E,Missense_D14E exm1891095 1 74716413 [A/C] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K EXON Missense_T199K,Missense_T199K,Missense_T98K exm68540 1 74716443 [T/C] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K EXON Missense_A209V,Missense_A209V,Missense_A108V exm68544 1 74737345 [A/G] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K EXON Missense_G234S,Missense_G234S,Missense_G133S exm68545 1 74737346 [T/G] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K EXON Missense_G234V,Missense_G234V,Missense_G133V exm2233801 1 74797140 [G/C] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K EXON Missense_D252H,Missense_D252H,Missense_D151H exm68552 1 74797201 [T/C] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K EXON Missense_L272S,Missense_L272S,Missense_L171S exm68565 1 74808620 [C/G] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K EXON Missense_L360F,Missense_L360F,Missense_L259F exm68566 1 74808631 [T/C] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K EXON Missense_P364L,Missense_P364L,Missense_P263L exm68569 1 74808805 [A/G] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K EXON Missense_I393V,Missense_I393V,Missense_I292V exm68572 1 74818977 [C/G] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K EXON Missense_D421E,Missense_D421E,Missense_D320E exm68581 1 74819712 [T/G] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K EXON Nonsense_L460X,Nonsense_L460X,Nonsense_L359X exm68583 1 74819748 [T/G] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K EXON Missense_C472F,Missense_C472F,Missense_C371F exm68588 1 74819807 [T/G] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K EXON Nonsense_E492X,Nonsense_E492X,Nonsense_E391X exm68604 1 74835130 [T/G] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K EXON Missense_V611L,Missense_V611L,Missense_V510L exm68607 1 74835152 [A/G] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K EXON Missense_N618S,Missense_N618S,Missense_N517S exm68618 1 74836076 [C/G] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K EXON Missense_S692T,Missense_S692T,Missense_S591T exm2265018 1 74861767 [A/G] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K Silent,Silent,Silent exm2233802 1 74905205 [T/C] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K EXON Missense_T738M,Missense_T738M,Missense_T637M exm68632 1 74905291 [A/G] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K EXON Missense_A767T,Missense_A767T,Missense_A666T exm68637 1 74929166 [T/C] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K EXON Missense_P786S,Missense_P786S,Missense_P685S exm68638 1 74929170 [T/C] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K EXON Missense_I787T,Missense_I787T,Missense_I686T exm2263826 1 74939570 [A/C] NM_001112808,NM_015978 FPGT-TNNI3K,TNNI3K Silent,Silent exm68661 1 74954900 [A/G] NM_001112808,NM_015978 FPGT-TNNI3K,TNNI3K EXON Missense_M818V,Missense_M717V exm68670 1 74957907 [G/C] NM_001112808,NM_015978 FPGT-TNNI3K,TNNI3K EXON Missense_E871Q,Missense_E770Q exm68672 1 74957950 [A/G] NM_001112808,NM_015978 FPGT-TNNI3K,TNNI3K EXON Missense_S885N,Missense_S784N exm-rs1514175 1 74991644 [A/G] NM_001112808,NM_015978 FPGT-TNNI3K,TNNI3K Silent,Silent exm68684 1 75009607 [A/G] NM_001112808,NM_015978 FPGT-TNNI3K,TNNI3K EXON Missense_M918V,Missense_M817V exm68689 1 75009655 [T/G] NM_001112808,NM_015978 FPGT-TNNI3K,TNNI3K EXON Missense_D934Y,Missense_D833Y exm68692 1 75036783 [T/C] NM_001002912 C1orf173 EXON Silent exm68694 1 75036812 [T/C] NM_001002912 C1orf173 EXON Missense_V1528M exm68703 1 75037000 [T/C] NM_001002912 C1orf173 EXON Missense_R1465K exm68704 1 75037007 [C/G] NM_001002912 C1orf173 EXON Missense_D1463H exm1893109 1 75037091 [T/C] NM_001002912 C1orf173 EXON Missense_G1435R exm68709 1 75037108 [A/G] NM_001002912 C1orf173 EXON Missense_A1429V exm68716 1 75037334 [C/G] NM_001002912 C1orf173 EXON Missense_A1354P exm68721 1 75037385 [T/C] NM_001002912 C1orf173 EXON Missense_V1337I exm68728 1 75037566 [G/C] NM_001002912 C1orf173 EXON Missense_E1276D exm68736 1 75037708 [A/G] NM_001002912 C1orf173 EXON Missense_A1229V exm68739 1 75037756 [T/C] NM_001002912 C1orf173 EXON Missense_E1213G exm68740 1 75037757 [T/C] NM_001002912 C1orf173 EXON Missense_E1213K exm68750 1 75037867 [T/C] NM_001002912 C1orf173 EXON Missense_E1176G exm68757 1 75038050 [A/G] NM_001002912 C1orf173 EXON Missense_T1115I exm68764 1 75038148 [A/C] NM_001002912 C1orf173 EXON Missense_R1082S exm68766 1 75038228 [A/C] NM_001002912 C1orf173 EXON Missense_L1056V exm68767 1 75038252 [A/C] NM_001002912 C1orf173 EXON Nonsense_E1048X exm1893126 1 75038318 [T/G] NM_001002912 C1orf173 EXON Missense_K1026Q exm1893128 1 75038474 [T/C] NM_001002912 C1orf173 EXON Missense_I974V exm68776 1 75038477 [A/C] NM_001002912 C1orf173 EXON Missense_A973S exm68781 1 75038558 [T/C] NM_001002912 C1orf173 EXON Missense_E946K exm68784 1 75038603 [T/C] NM_001002912 C1orf173 EXON Missense_G931R exm68785 1 75038608 [T/C] NM_001002912 C1orf173 EXON Missense_E929G exm68786 1 75038624 [T/C] NM_001002912 C1orf173 EXON Missense_E924K exm68796 1 75038747 [A/G] NM_001002912 C1orf173 EXON Missense_L883F exm68804 1 75038833 [G/C] NM_001002912 C1orf173 EXON Missense_G854A exm68805 1 75038836 [A/T] NM_001002912 C1orf173 EXON Missense_E853V exm68815 1 75038927 [T/C] NM_001002912 C1orf173 EXON Missense_E823K exm68819 1 75038963 [A/C] NM_001002912 C1orf173 EXON Missense_A811S exm68826 1 75039091 [A/G] NM_001002912 C1orf173 EXON Missense_T768I exm68828 1 75039125 [T/C] NM_001002912 C1orf173 EXON Missense_K757E exm68841 1 75055313 [A/G] NM_001002912 C1orf173 Silent exm68848 1 75055419 [T/C] NM_001002912 C1orf173 EXON Missense_H691R exm68857 1 75055585 [T/C] NM_001002912 C1orf173 EXON Missense_I636V exm68859 1 75055741 [A/C] NM_001002912 C1orf173 EXON Missense_S584A exm68861 1 75055749 [A/G] NM_001002912 C1orf173 EXON Missense_S581L exm1893197 1 75065377 [A/G] NM_001002912 C1orf173 Silent exm68864 1 75065391 [T/C] NM_001002912 C1orf173 EXON Missense_E572K exm68869 1 75065422 [C/G] NM_001002912 C1orf173 EXON Missense_E561D exm68870 1 75065441 [T/C] NM_001002912 C1orf173 EXON Missense_R555H exm68873 1 75065459 [A/T] NM_001002912 C1orf173 EXON Missense_Q549L exm68879 1 75065525 [A/G] NM_001002912 C1orf173 EXON Missense_P527L exm68887 1 75072425 [T/G] NM_001002912 C1orf173 EXON Missense_T450N exm68892 1 75072513 [T/C] NM_001002912 C1orf173 EXON Missense_G421R exm68899 1 75078356 [A/G] NM_001002912 C1orf173 EXON Nonsense_R380X exm68901 1 75078423 [T/C] NM_001002912 C1orf173 EXON Missense_M357I exm1893219 1 75078484 [T/C] NM_001002912 C1orf173 EXON Missense_Q337R exm68906 1 75086463 [G/C] NM_001002912 C1orf173 EXON Missense_G319R exm68908 1 75086496 [A/G] NM_001002912 C1orf173 EXON Missense_R308W exm68909 1 75086510 [T/C] NM_001002912 C1orf173 EXON Missense_D303G exm68913 1 75086570 [A/C] NM_001002912 C1orf173 EXON Nonsense_L283X exm68915 1 75086586 [T/C] NM_001002912 C1orf173 EXON Missense_I278V exm68921 1 75097426 [G/C] NM_001002912 C1orf173 EXON Missense_P264A exm68923 1 75097483 [T/G] NM_001002912 C1orf173 EXON Missense_T245P exm1893247 1 75097596 [A/G] NM_001002912 C1orf173 EXON Missense_M207T exm2253076 1 75101997 [T/C] NM_001002912 C1orf173 EXON Synonymous_S190S exm68929 1 75102044 [T/C] NM_001002912 C1orf173 EXON Missense_V175I exm1893251 1 75107016 [T/A] NM_001002912 C1orf173 EXON Missense_L148Q exm68935 1 75107043 [T/C] NM_001002912 C1orf173 EXON Missense_D139G exm68944 1 75108727 [T/C] NM_001002912 C1orf173 EXON Missense_R100Q exm68950 1 75108781 [T/C] NM_001002912 C1orf173 EXON Missense_R82H exm68952 1 75112419 [A/G] NM_001002912 C1orf173 EXON Missense_R59W exm2268707 1 75166623 [T/C] exm68962 1 75172042 [T/C] NM_001134759,NM_001889,NM_001130042,NM_001130043 CRYZ,CRYZ,CRYZ,CRYZ EXON Missense_E173K,Missense_E310K,Missense_E310K,Missense_E276K exm68966 1 75172131 [T/C] NM_001134759,NM_001889,NM_001130042,NM_001130043 CRYZ,CRYZ,CRYZ,CRYZ EXON Missense_Q143R,Missense_Q280R,Missense_Q280R,Missense_Q246R exm68970 1 75172620 [A/G] NM_001134759,NM_001889,NM_001130042,NM_001130043 CRYZ,CRYZ,CRYZ,CRYZ EXON Missense_S127L,Missense_S264L,Missense_S264L,Missense_S230L exm68989 1 75175865 [T/C] NM_001134759,NM_001889,NM_001130042,NM_001130043 CRYZ,CRYZ,CRYZ,CRYZ EXON Missense_E46K,Missense_E183K,Missense_E183K,Missense_E183K exm68990 1 75175886 [T/C] NM_001134759,NM_001889,NM_001130042,NM_001130043 CRYZ,CRYZ,CRYZ,CRYZ EXON Missense_I39V,Missense_I176V,Missense_I176V,Missense_I176V exm68998 1 75184954 [A/G] NM_001134759,NM_001889,NM_001130042,NM_001130043 CRYZ,CRYZ,CRYZ,CRYZ EXON Silent,Missense_F123L,Missense_F123L,Missense_F123L exm69000 1 75184990 [T/C] NM_001134759,NM_001889,NM_001130042,NM_001130043 CRYZ,CRYZ,CRYZ,CRYZ EXON Silent,Missense_D111N,Missense_D111N,Missense_D111N exm69004 1 75185057 [T/C] NM_001134759,NM_001889,NM_001130042,NM_001130043 CRYZ,CRYZ,CRYZ,CRYZ Silent,Silent,Silent,Silent exm69010 1 75188902 [T/C] NM_001134759,NM_001889,NM_001130042,NM_001130043 CRYZ,CRYZ,CRYZ,CRYZ EXON Silent,Missense_R55H,Missense_R55H,Missense_R55H exm69013 1 75188918 [T/C] NM_001134759,NM_001889,NM_001130042,NM_001130043 CRYZ,CRYZ,CRYZ,CRYZ EXON Silent,Missense_V50M,Missense_V50M,Missense_V50M exm69026 1 75199023 [A/C] NM_001134759,NM_001889,NM_001130042,NM_001130043,NM_001162916,NM_138467,NR_027962 CRYZ,CRYZ,CRYZ,CRYZ,TYW3,TYW3,TYW3 EXON Silent,Silent,Silent,Silent,Missense_E32A,Missense_E32A,Silent exm69034 1 75204416 [A/T] NM_001162916,NM_138467,NR_027962 TYW3,TYW3,TYW3 EXON Silent,Missense_F100I,Silent exm69035 1 75204447 [A/G] NM_001162916,NM_138467,NR_027962 TYW3,TYW3,TYW3 EXON Silent,Missense_R110Q,Silent exm69040 1 75214441 [A/G] NM_001162916,NM_138467,NR_027962 TYW3,TYW3,TYW3 EXON Missense_M88V,Missense_M121V,Silent exm69047 1 75218014 [A/C] NM_001162916,NM_138467,NR_027962 TYW3,TYW3,TYW3 EXON Missense_S122R,Missense_S155R,Silent exm69050 1 75229588 [T/C] NM_001162916,NM_138467,NR_027962 TYW3,TYW3,TYW3 EXON Missense_C158R,Missense_C191R,Silent exm69051 1 75229609 [A/G] NM_001162916,NM_138467,NR_027962 TYW3,TYW3,TYW3 EXON Missense_R165G,Missense_R198G,Silent exm2273656 1 75229621 [T/A] NM_001162916,NM_138467,NR_027962 TYW3,TYW3,TYW3 EXON Missense_T169S,Missense_T202S,Silent exm1893991 1 75596410 [T/C] NM_001001933 LHX8 EXON Missense_L4P exm69065 1 75602300 [A/C] NM_001001933,NM_001256114 LHX8,LHX8 EXON Missense_M11L,Missense_M1L exm69072 1 75602801 [T/C] NM_001001933,NM_001256114 LHX8,LHX8 EXON Missense_A41V,Missense_A31V exm69095 1 75622662 [A/C] NM_001001933,NM_001256114 LHX8,LHX8 EXON Missense_P299T,Missense_P289T exm69103 1 75622741 [T/C] NM_001001933,NM_001256114 LHX8,LHX8 EXON Missense_A325V,Missense_A315V exm69115 1 75677192 [T/C] NM_001130058,NM_152697 SLC44A5,SLC44A5 EXON Missense_V670I,Missense_V670I exm69127 1 75684184 [T/C] NM_001130058,NM_152697 SLC44A5,SLC44A5 EXON Missense_R507Q,Missense_R507Q exm69128 1 75684185 [G/C] NM_001130058,NM_152697 SLC44A5,SLC44A5 EXON Missense_R507G,Missense_R507G exm69142 1 75685576 [T/C] NM_001130058,NM_152697 SLC44A5,SLC44A5 EXON Missense_A363T,Missense_A363T exm69153 1 75693501 [A/G] NM_001130058,NM_152697 SLC44A5,SLC44A5 EXON Missense_R299C,Missense_R299C exm69173 1 75708628 [C/G] NM_001130058,NM_152697 SLC44A5,SLC44A5 EXON Missense_D138E,Missense_D138E exm2253106 1 75716925 [T/C] NM_001130058,NM_152697 SLC44A5,SLC44A5 EXON Synonymous_V105V,Synonymous_V105V exm2268902 1 75785718 [T/C] NM_001130058,NM_152697 SLC44A5,SLC44A5 Silent,Silent exm1894957 1 75805301 [A/G] NM_001130058,NM_152697 SLC44A5,SLC44A5 EXON Missense_Y23H,Missense_Y23H exm2264859 1 75818341 [A/G] NM_001130058,NM_152697 SLC44A5,SLC44A5 Silent,Silent exm69196 1 75862292 [T/A] NM_001130058,NM_152697 SLC44A5,SLC44A5 EXON Missense_T10S,Missense_T10S exm-rs1857353 1 75913826 [T/C] NM_001130058,NM_152697 SLC44A5,SLC44A5 Silent,Silent exm-rs211718 1 76106675 [T/C] exm69215 1 76198337 [A/G] NM_000016,NM_001127328 ACADM,ACADM EXON Missense_E43K,Missense_E47K exm69217 1 76198397 [C/G] NM_000016,NM_001127328 ACADM,ACADM EXON Missense_V63L,Missense_V67L exm69219 1 76198409 [T/C] NM_000016,NM_001127328 ACADM,ACADM EXON Missense_Y67H,Missense_Y71H exm2253134 1 76199277 [A/C] NM_000016,NM_001127328 ACADM,ACADM EXON Synonymous_T117T,Synonymous_T121T exm69239 1 76205722 [T/G] NM_000016,NM_001127328 ACADM,ACADM EXON Missense_A176S,Missense_A180S exm69249 1 76211557 [A/C] NM_000016,NM_001127328 ACADM,ACADM EXON Missense_F222L,Missense_F226L exm69252 1 76215192 [A/G] NM_000016,NM_001127328 ACADM,ACADM EXON Missense_D266G,Missense_D270G exm69254 1 76215194 [A/G] NM_000016,NM_001127328 ACADM,ACADM EXON Missense_G267R,Missense_G271R exm69261 1 76226846 [A/G] NM_000016,NM_001127328 ACADM,ACADM EXON Missense_K329E,Missense_K333E exm69265 1 76226952 [T/C] NM_000016,NM_001127328 ACADM,ACADM EXON Missense_I364T,Missense_I368T exm2253141 1 76253229 [T/A] NR_073562,NM_004582 RABGGTB,RABGGTB EXON Silent,Synonymous_T17T exm69311 1 76257984 [T/C] NR_073562,NM_004582 RABGGTB,RABGGTB EXON Silent,Missense_P233L exm69323 1 76260335 [G/C] NR_073562,NM_004582 RABGGTB,RABGGTB EXON Silent,Missense_X332Y exm69332 1 76262773 [A/C] NM_002440 MSH4 EXON Missense_L35I exm69338 1 76262885 [A/G] NM_002440 MSH4 EXON Missense_C72Y exm69344 1 76269439 [A/G] NM_002440 MSH4 EXON Missense_A90T exm69345 1 76269451 [A/G] NM_002440 MSH4 EXON Missense_N94D exm69346 1 76269460 [A/G] NM_002440 MSH4 EXON Missense_A97T exm69350 1 76272666 [T/C] NM_002440 MSH4 EXON Missense_A143V exm69351 1 76272681 [T/C] NM_002440 MSH4 EXON Missense_A148V exm69354 1 76272778 [A/C] NM_002440 MSH4 EXON Missense_N180K exm69371 1 76288152 [T/C] NM_002440 MSH4 EXON Nonsense_R350X exm69372 1 76288193 [A/T] NM_002440 MSH4 EXON Missense_E363D exm69391 1 76343943 [A/G] NM_002440 MSH4 EXON Missense_I494V exm69392 1 76343945 [A/G] NM_002440 MSH4 EXON Missense_I494M exm69401 1 76345823 [A/G] NM_002440 MSH4 EXON Missense_Y589C exm2233822 1 76345825 [C/G] NM_002440 MSH4 EXON Missense_H590D exm69419 1 76355026 [A/C] NM_002440 MSH4 EXON Nonsense_S733X exm69428 1 76363707 [A/C] NM_002440 MSH4 EXON Missense_K824T exm1897173 1 76363728 [A/G] NM_002440 MSH4 EXON Missense_Y831C exm69430 1 76363756 [G/C] NM_002440 MSH4 EXON Missense_E840D exm69443 1 76378459 [T/C] NM_002440 MSH4 EXON Nonsense_R900X exm69444 1 76378502 [A/G] NM_002440 MSH4 EXON Missense_S914N exm1897247 1 76384659 [T/A] NM_080868,NR_026546 ASB17,ASB17 EXON Missense_N289I,Silent exm69450 1 76384668 [T/C] NM_080868,NR_026546 ASB17,ASB17 EXON Missense_R286H,Silent exm69453 1 76384785 [A/G] NM_080868,NR_026546 ASB17,ASB17 EXON Missense_S247L,Silent exm2264860 1 76386305 [A/G] NM_080868,NR_026546 ASB17,ASB17 Silent,Silent exm69465 1 76388015 [A/G] NM_080868,NR_026546 ASB17,ASB17 EXON Missense_P144L,Silent exm69468 1 76397581 [T/C] NM_080868,NR_026546 ASB17,ASB17 EXON Missense_I132M,Silent exm69478 1 76397972 [T/C] NM_080868,NR_026546 ASB17,ASB17 EXON Missense_S2N,Silent exm-rs12753569 1 76484014 [T/G] exm-rs10873876 1 76772328 [T/C] NM_001160011,NM_152996 ST6GALNAC3,ST6GALNAC3 Silent,Silent exm2268708 1 76870939 [T/C] NM_001160011,NM_152996 ST6GALNAC3,ST6GALNAC3 Silent,Silent exm69499 1 76877767 [T/G] NM_001160011,NM_152996 ST6GALNAC3,ST6GALNAC3 EXON Missense_N96K,Missense_N96K exm69507 1 76877896 [C/G] NM_001160011,NM_152996 ST6GALNAC3,ST6GALNAC3 EXON Missense_N139K,Missense_N139K exm69509 1 76877954 [T/C] NM_001160011,NM_152996 ST6GALNAC3,ST6GALNAC3 EXON Missense_R159C,Missense_R159C exm69512 1 76878014 [A/G] NM_001160011,NM_152996 ST6GALNAC3,ST6GALNAC3 EXON Missense_I179V,Missense_I179V exm2265019 1 76939676 [A/G] NM_001160011,NM_152996 ST6GALNAC3,ST6GALNAC3 Silent,Silent exm69523 1 77093180 [A/C] NM_152996 ST6GALNAC3 EXON Missense_L223I exm1898998 1 77093195 [A/G] NM_152996 ST6GALNAC3 EXON Missense_A228T exm69524 1 77093243 [A/C] NM_152996 ST6GALNAC3 EXON Missense_K244Q exm2253177 1 77094338 [T/C] NM_152996 ST6GALNAC3 EXON Synonymous_Y255Y exm69528 1 77094374 [A/T] NM_152996 ST6GALNAC3 EXON Missense_F267L exm69529 1 77094375 [A/C] NM_152996 ST6GALNAC3 EXON Missense_L268I exm2265020 1 77295109 [A/G] exm69571 1 77510163 [A/G] NM_030965 ST6GALNAC5 EXON Missense_R179Q exm69578 1 77515977 [T/G] NM_030965 ST6GALNAC5 EXON Missense_F236V exm1903051 1 77528749 [A/G] NM_030965 ST6GALNAC5 EXON Missense_R290H exm2253243 1 77547831 [T/C] exm69602 1 77627018 [T/C] NM_005482 PIGK EXON Missense_E259K exm69613 1 77629532 [A/G] NM_005482 PIGK EXON Missense_R195C exm69617 1 77629565 [T/C] NM_005482 PIGK EXON Missense_A184T exm69619 1 77632448 [T/C] NM_005482 PIGK EXON Missense_R148H exm69621 1 77632493 [T/C] NM_005482 PIGK EXON Missense_R133Q exm1903901 1 77672404 [A/G] NM_005482 PIGK EXON Nonsense_R54X exm69632 1 77685042 [T/C] NM_005482 PIGK EXON Missense_T16A exm69634 1 77685050 [A/G] NM_005482 PIGK EXON Missense_V13A exm69660 1 77763309 [A/G] NM_174858,NM_012093 AK5,AK5 EXON Missense_I161V,Missense_I135V exm2264861 1 77865140 [A/G] NM_174858,NM_012093 AK5,AK5 Silent,Silent exm69694 1 77987557 [A/G] NM_174858,NM_012093 AK5,AK5 EXON Missense_G453R,Missense_G427R exm69697 1 77987594 [A/G] NM_174858,NM_012093 AK5,AK5 EXON Missense_R465Q,Missense_R439Q exm69704 1 78001652 [T/C] NM_174858,NM_012093 AK5,AK5 EXON Missense_R517C,Missense_R491C exm69712 1 78031434 [T/C] NM_015534 ZZZ3 EXON Missense_Q868R exm69713 1 78031441 [A/C] NM_015534 ZZZ3 EXON Missense_D866Y exm1907349 1 78034049 [C/G] NM_015534 ZZZ3 EXON Missense_E812Q exm69720 1 78034075 [T/C] NM_015534 ZZZ3 EXON Missense_K803R exm1907440 1 78041762 [T/G] NM_015534 ZZZ3 EXON Missense_E774D exm69725 1 78041799 [T/C] NM_015534 ZZZ3 EXON Missense_R762Q exm2273657 1 78045291 [T/A] NM_015534 ZZZ3 EXON Missense_I668N exm69751 1 78047705 [T/C] NM_015534 ZZZ3 EXON Missense_R584H exm-rs17381664 1 78048331 [T/C] NM_015534 ZZZ3 Silent exm69777 1 78097803 [T/C] NM_015534 ZZZ3 EXON Missense_N413D exm69778 1 78097823 [T/C] NM_015534 ZZZ3 EXON Missense_E406G exm69782 1 78097947 [T/A] NM_015534 ZZZ3 EXON Missense_M365L exm69786 1 78098003 [T/A] NM_015534 ZZZ3 EXON Missense_M346K exm69793 1 78098151 [T/C] NM_015534 ZZZ3 EXON Missense_T297A exm2233836 1 78098190 [T/C] NM_015534 ZZZ3 EXON Missense_T284A exm69803 1 78098402 [A/G] NM_015534 ZZZ3 EXON Missense_I213T exm69804 1 78098403 [T/C] NM_015534 ZZZ3 EXON Missense_I213V exm69805 1 78098409 [T/C] NM_015534 ZZZ3 EXON Missense_A211T exm69806 1 78098432 [T/C] NM_015534 ZZZ3 EXON Missense_N203S exm69823 1 78099032 [C/G] NM_015534 ZZZ3 EXON Missense_A3G exm1908148 1 78178961 [T/G] NM_015017,NM_201624,NM_201626 USP33,USP33,USP33 EXON Missense_P772T,Missense_P741T,Missense_P764T exm69858 1 78180445 [T/C] NM_015017,NM_201624,NM_201626 USP33,USP33,USP33 EXON Missense_K721R,Missense_K690R,Missense_K713R exm69865 1 78183666 [T/C] NM_015017,NM_201624,NM_201626 USP33,USP33,USP33 EXON Missense_V633I,Missense_V602I,Missense_V625I exm69871 1 78184325 [A/G] NM_015017,NM_201624,NM_201626 USP33,USP33,USP33 EXON Synonymous_L596L,Synonymous_L565L,Synonymous_L588L exm69880 1 78187783 [T/C] NM_015017,NM_201624,NM_201626 USP33,USP33,USP33 EXON Missense_I527M,Missense_I496M,Missense_I527M exm69885 1 78189051 [T/C] NM_015017,NM_201624,NM_201626 USP33,USP33,USP33 EXON Missense_I483V,Missense_I452V,Missense_I483V exm2233838 1 78194235 [T/C] NM_015017,NM_201624,NM_201626 USP33,USP33,USP33 EXON Missense_S325G,Missense_S294G,Missense_S325G exm69910 1 78194300 [A/G] NM_015017,NM_201624,NM_201626 USP33,USP33,USP33 EXON Missense_T303I,Missense_T272I,Missense_T303I exm69922 1 78201770 [A/G] NM_015017,NM_201624,NM_201626 USP33,USP33,USP33 EXON Missense_A173V,Missense_A142V,Missense_A173V exm69926 1 78204961 [T/C] NM_015017,NM_201624,NM_201626 USP33,USP33,USP33 EXON Missense_N145D,Missense_N114D,Missense_N145D exm69937 1 78207409 [T/C] NM_015017,NM_201624,NM_201626 USP33,USP33,USP33 EXON Missense_G23R,Silent,Missense_G23R exm69939 1 78245342 [T/G] NM_001270384,NM_198549 FAM73A,FAM73A EXON Missense_M1R,Missense_M1R exm1908264 1 78267157 [A/C] NM_001270384,NM_198549 FAM73A,FAM73A EXON Missense_I113L,Missense_I113L exm69960 1 78267163 [G/C] NM_001270384,NM_198549 FAM73A,FAM73A EXON Missense_E115Q,Missense_E115Q exm69965 1 78269053 [T/C] NM_001270384,NM_198549 FAM73A,FAM73A EXON Missense_F158L,Missense_F158L exm69970 1 78279446 [A/G] NM_001270384,NM_198549 FAM73A,FAM73A EXON Missense_R222H,Missense_R222H exm69974 1 78280886 [T/C] NM_001270384,NM_198549 FAM73A,FAM73A EXON Missense_S289P,Missense_S289P exm2268903 1 78305859 [T/G] NM_001270384,NM_198549 FAM73A,FAM73A Silent,Silent exm69980 1 78324641 [A/G] NM_001270384,NM_198549 FAM73A,FAM73A EXON Missense_V339I,Missense_V339I exm69987 1 78325752 [A/G] NM_001270384,NM_198549 FAM73A,FAM73A EXON Missense_I406V,Missense_I406V exm70004 1 78338763 [C/G] NM_001270384,NM_198549 FAM73A,FAM73A EXON Missense_L547F,Missense_L546F exm70006 1 78338798 [T/C] NM_001270384,NM_198549 FAM73A,FAM73A EXON Missense_F559S,Missense_F558S exm70008 1 78340540 [A/C] NM_001270384,NM_198549 FAM73A,FAM73A EXON Missense_L565I,Missense_L564I exm70040 1 78392222 [A/G] NM_144573,NM_001172309 NEXN,NEXN EXON Missense_E205K,Missense_E141K exm1908376 1 78392548 [T/C] NM_144573,NM_001172309 NEXN,NEXN EXON Missense_R279C,Missense_R215C exm70056 1 78395029 [C/G] NM_144573,NM_001172309 NEXN,NEXN EXON Missense_T298R,Missense_T234R exm70060 1 78395131 [A/C] NM_144573,NM_001172309 NEXN,NEXN EXON Missense_E332A,Missense_E268A exm70066 1 78399084 [T/C] NM_144573,NM_001172309 NEXN,NEXN EXON Nonsense_R391X,Nonsense_R327X exm70074 1 78401664 [C/G] NM_144573,NM_001172309 NEXN,NEXN EXON Missense_E470Q,Missense_E406Q exm70076 1 78401691 [T/C] NM_144573,NM_001172309 NEXN,NEXN EXON Missense_L479F,Missense_L415F exm70084 1 78407816 [G/C] NM_144573,NM_001172309 NEXN,NEXN EXON Missense_E528Q,Missense_E464Q exm70086 1 78407852 [A/G] NM_144573,NM_001172309 NEXN,NEXN EXON Missense_M540V,Missense_M476V exm70093 1 78408274 [T/G] NM_144573,NM_001172309 NEXN,NEXN EXON Missense_S596R,Missense_S532R exm70096 1 78408441 [A/G] NM_144573,NM_001172309 NEXN,NEXN EXON Missense_Y652C,Missense_Y588C exm70107 1 78422374 [T/C] NM_003902 FUBP1 EXON Missense_T530A exm70156 1 78433856 [T/G] NM_003902 FUBP1 EXON Missense_Q81H exm1908526 1 78478821 [A/G] NM_007034 DNAJB4 EXON Missense_A100T exm70178 1 78478903 [A/T] NM_007034 DNAJB4 EXON Missense_I127K exm70192 1 78479287 [T/A] NM_007034 DNAJB4 EXON Missense_K255I exm70193 1 78481716 [A/G] NM_007034 DNAJB4 EXON Missense_I267V exm70194 1 78481725 [T/C] NM_007034 DNAJB4 EXON Missense_P270S exm70207 1 78511980 [T/G] NM_017655 GIPC2 EXON Missense_A68S exm70211 1 78546462 [A/G] NM_017655 GIPC2 EXON Missense_E115G exm70214 1 78546500 [C/G] NM_017655 GIPC2 EXON Missense_G128R exm2264862 1 78574129 [A/G] NM_017655 GIPC2 Silent exm70227 1 78585086 [T/C] NM_017655 GIPC2 EXON Missense_L206P exm70240 1 78601390 [A/G] NM_017655 GIPC2 EXON Nonsense_W304X exm-rs17391694 1 78623626 [T/C] exm70251 1 78958457 [T/C] NM_000959,NM_001039585 PTGFR,PTGFR EXON Missense_V10A,Missense_V10A exm2233850 1 78958628 [T/G] NM_000959,NM_001039585 PTGFR,PTGFR EXON Missense_L67R,Missense_L67R exm70261 1 78958691 [T/C] NM_000959,NM_001039585 PTGFR,PTGFR EXON Missense_A88V,Missense_A88V exm70265 1 78958862 [T/C] NM_000959,NM_001039585 PTGFR,PTGFR EXON Missense_T145M,Missense_T145M exm70270 1 78958893 [A/G] NM_000959,NM_001039585 PTGFR,PTGFR EXON Missense_M155I,Missense_M155I exm70280 1 78959081 [T/C] NM_000959,NM_001039585 PTGFR,PTGFR EXON Missense_L218S,Missense_L218S exm70281 1 78959117 [T/C] NM_000959,NM_001039585 PTGFR,PTGFR EXON Missense_V230A,Missense_V230A exm70293 1 78963581 [A/G] NM_000959,NM_001039585 PTGFR,PTGFR EXON Silent,Missense_G274E exm70294 1 78963587 [A/G] NM_000959,NM_001039585 PTGFR,PTGFR EXON Silent,Missense_E276G exm70300 1 79002115 [A/C] NM_000959,NM_001039585 PTGFR,PTGFR EXON Missense_N275H,Missense_X298Y exm1908770 1 79002230 [A/G] NM_000959,NM_001039585 PTGFR,PTGFR EXON Missense_K313R,Silent exm70307 1 79002304 [A/G] NM_000959,NM_001039585 PTGFR,PTGFR EXON Missense_I338V,Silent exm2265021 1 79056297 [A/G] exm70317 1 79093737 [A/G] NM_006820 IFI44L EXON Missense_R46H exm70318 1 79093776 [A/G] NM_006820 IFI44L EXON Missense_N59S exm70319 1 79093781 [A/G] NM_006820 IFI44L EXON Missense_I61V exm70323 1 79093818 [A/G] NM_006820 IFI44L EXON Missense_H73R exm70324 1 79093821 [A/G] NM_006820 IFI44L EXON Missense_E74G exm2233852 1 79093842 [T/A] NM_006820 IFI44L EXON Missense_D81V exm70327 1 79093910 [A/G] NM_006820 IFI44L EXON Missense_A104T exm70332 1 79093956 [T/C] NM_006820 IFI44L EXON Missense_T119M exm70336 1 79094042 [T/C] NM_006820 IFI44L EXON Missense_R148C exm70338 1 79094079 [T/G] NM_006820 IFI44L Silent exm70348 1 79095439 [T/C] NM_006820 IFI44L EXON Missense_Y188H exm70355 1 79095526 [A/G] NM_006820 IFI44L EXON Missense_V217I exm70358 1 79095565 [A/G] NM_006820 IFI44L EXON Missense_V230I exm70359 1 79095572 [A/G] NM_006820 IFI44L EXON Missense_G232E exm70360 1 79095581 [T/C] NM_006820 IFI44L EXON Missense_I235T exm70368 1 79101115 [A/G] NM_006820 IFI44L EXON Missense_G273R exm70369 1 79101116 [T/G] NM_006820 IFI44L EXON Missense_G273V exm70370 1 79101124 [A/G] NM_006820 IFI44L EXON Missense_M276V exm70372 1 79101171 [A/T] NM_006820 IFI44L EXON Nonsense_Y291X exm70376 1 79102726 [T/C] NM_006820 IFI44L EXON Missense_R296C exm70377 1 79102727 [A/G] NM_006820 IFI44L EXON Missense_R296H exm70378 1 79102844 [A/T] NM_006820 IFI44L EXON Missense_M335K exm70380 1 79106745 [A/G] NM_006820 IFI44L EXON Missense_C363Y exm70381 1 79106805 [A/G] NM_006820 IFI44L EXON Missense_R383Q exm70383 1 79107140 [T/G] NM_006820 IFI44L EXON Missense_M390I exm70399 1 79115897 [A/G] NM_006417 IFI44 EXON Missense_R6H exm70408 1 79115987 [A/G] NM_006417 IFI44 EXON Missense_R36H exm70415 1 79116158 [T/G] NM_006417 IFI44 EXON Missense_G93V exm70416 1 79116169 [T/C] NM_006417 IFI44 EXON Missense_P97S exm70422 1 79116304 [T/G] NM_006417 IFI44 EXON Missense_S142A exm70434 1 79120788 [T/C] NM_006417 IFI44 EXON Missense_I195T exm70445 1 79121048 [A/G] NM_006417 IFI44 EXON Missense_Y231C exm70447 1 79121071 [A/G] NM_006417 IFI44 EXON Missense_G239R exm70459 1 79125064 [T/G] NM_006417 IFI44 EXON Missense_R303I exm70462 1 79125148 [A/G] NM_006417 IFI44 EXON Missense_R331Q exm70463 1 79125154 [A/C] NM_006417 IFI44 EXON Missense_E333A exm70472 1 79128419 [A/G] NM_006417 IFI44 EXON Missense_A382T exm70475 1 79128488 [G/C] NM_006417 IFI44 EXON Missense_L405V exm70478 1 79128528 [A/C] NM_006417 IFI44 EXON Missense_D418A exm70481 1 79128557 [A/C] NM_006417 IFI44 EXON Missense_Q428K exm2268710 1 79299411 [T/C] exm70490 1 79357360 [G/C] NM_022159 ELTD1 EXON Missense_A620G exm70492 1 79358811 [A/G] NM_022159 ELTD1 EXON Missense_P605S exm70494 1 79358827 [T/G] NM_022159 ELTD1 EXON Missense_H599Q exm70503 1 79383554 [A/G] NM_022159 ELTD1 EXON Missense_S548L exm70507 1 79383604 [A/C] NM_022159 ELTD1 EXON Missense_K531N exm70515 1 79385958 [T/G] NM_022159 ELTD1 EXON Missense_S457R exm70516 1 79385972 [T/G] NM_022159 ELTD1 EXON Missense_S453R exm70519 1 79386047 [T/C] NM_022159 ELTD1 EXON Missense_T428A exm70520 1 79387320 [A/C] NM_022159 ELTD1 EXON Missense_L412W exm70521 1 79387350 [T/C] NM_022159 ELTD1 EXON Missense_R402H exm70525 1 79387410 [T/C] NM_022159 ELTD1 EXON Missense_G382D exm70530 1 79392731 [A/G] NM_022159 ELTD1 EXON Missense_L308S exm70533 1 79392756 [A/C] NM_022159 ELTD1 EXON Missense_V300L exm70541 1 79402069 [T/C] NM_022159 ELTD1 EXON Missense_Y263C exm70547 1 79403660 [T/C] NM_022159 ELTD1 EXON Missense_V198M exm70550 1 79403796 [A/G] NM_022159 ELTD1 EXON Missense_S189P exm70559 1 79404913 [T/G] NM_022159 ELTD1 EXON Missense_N119T exm70562 1 79411968 [A/C] NM_022159 ELTD1 EXON Missense_V106F exm70564 1 79412096 [T/C] NM_022159 ELTD1 EXON Missense_G63E exm70566 1 79470788 [T/C] NM_022159 ELTD1 EXON Missense_G47R exm2264863 1 79591801 [A/G] exm2265022 1 79709724 [A/G] exm-rs7533906 1 80134123 [T/C] exm2268711 1 80148857 [T/G] exm-rs12022561 1 80235819 [T/C] exm-rs12024204 1 80243001 [A/G] exm2264864 1 80386090 [A/G] exm2268712 1 81807097 [T/C] exm2260736 1 81867479 [T/C] exm70571 1 82302677 [T/C] NM_012302 LPHN2 EXON Missense_S3F exm70573 1 82302695 [A/G] NM_012302 LPHN2 EXON Missense_R9Q exm70579 1 82372803 [A/G] NM_012302 LPHN2 EXON Missense_I59V exm70592 1 82409174 [A/G] NM_012302 LPHN2 EXON Missense_D307N exm2253369 1 82409269 [T/C] NM_012302 LPHN2 EXON Synonymous_N338N exm70597 1 82409337 [A/G] NM_012302 LPHN2 EXON Missense_Q361R exm70598 1 82409352 [T/C] NM_012302 LPHN2 EXON Missense_A366V exm70607 1 82416040 [T/C] NM_012302 LPHN2 EXON Missense_P456S exm70608 1 82416046 [A/G] NM_012302 LPHN2 EXON Missense_I458V exm70618 1 82417696 [A/G] NM_012302 LPHN2 EXON Missense_K551R exm70632 1 82421742 [T/C] NM_012302 LPHN2 EXON Missense_I655T exm70633 1 82431756 [T/G] NM_012302 LPHN2 EXON Missense_V661L exm70642 1 82432184 [T/G] NM_012302 LPHN2 EXON Missense_R730L exm70648 1 82433819 [A/G] NM_012302 LPHN2 EXON Missense_R803Q exm70653 1 82434874 [A/G] NM_012302 LPHN2 EXON Missense_V829I exm2253371 1 82434945 [T/C] NM_012302 LPHN2 EXON Synonymous_C852C exm70660 1 82435036 [A/G] NM_012302 LPHN2 EXON Missense_I883V exm70670 1 82437536 [T/C] NM_012302 LPHN2 EXON Synonymous_A968A exm70685 1 82450382 [A/C] NM_012302 LPHN2 EXON Missense_S1116Y exm70699 1 82456107 [C/G] NM_012302 LPHN2 EXON Missense_A1164P exm70705 1 82456165 [T/G] NM_012302 LPHN2 EXON Missense_G1183V exm70706 1 82456182 [A/G] NM_012302 LPHN2 EXON Missense_V1189M exm70710 1 82456308 [A/G] NM_012302 LPHN2 EXON Missense_V1231I exm70712 1 82456332 [A/G] NM_012302 LPHN2 EXON Missense_S1239G exm70713 1 82456341 [A/G] NM_012302 LPHN2 EXON Missense_D1242N exm70715 1 82456381 [A/G] NM_012302 LPHN2 EXON Missense_S1255N exm70719 1 82456419 [A/G] NM_012302 LPHN2 EXON Missense_E1268K exm70721 1 82456432 [T/C] NM_012302 LPHN2 EXON Missense_I1272T exm70726 1 82456485 [A/G] NM_012302 LPHN2 EXON Missense_E1290K exm70727 1 82456501 [A/G] NM_012302 LPHN2 EXON Missense_Y1295C exm70730 1 82456585 [A/G] NM_012302 LPHN2 EXON Missense_R1323K exm70731 1 82456599 [C/G] NM_012302 LPHN2 EXON Missense_P1328A exm1910906 1 82456716 [T/C] NM_012302 LPHN2 EXON Missense_Y1367H exm2260750 1 82965883 [T/C] exm2268714 1 83172671 [T/C] exm-rs11163585 1 83311835 [T/C] exm2268715 1 83570271 [T/C] exm2268906 1 84112571 [T/C] exm-rs7552393 1 84254551 [A/G] exm-rs7539409 1 84254735 [A/G] exm2264866 1 84295861 [A/G] NR_049805 MIR548AP Silent exm1913028 1 84348787 [A/G] NR_049805,NM_024686 MIR548AP,TTLL7 EXON Silent,Missense_P801L exm70749 1 84348801 [T/C] NR_049805,NM_024686 MIR548AP,TTLL7 EXON Silent,Missense_I796M exm70755 1 84356065 [T/C] NR_049805,NM_024686 MIR548AP,TTLL7 EXON Silent,Missense_V770I exm70765 1 84372134 [A/G] NR_049805,NM_024686 MIR548AP,TTLL7 EXON Silent,Missense_R669W exm70770 1 84373276 [A/G] NR_049805,NM_024686 MIR548AP,TTLL7 EXON Silent,Missense_R619C exm70773 1 84373309 [T/C] NR_049805,NM_024686 MIR548AP,TTLL7 EXON Silent,Missense_I608V exm70775 1 84376849 [A/G] NR_049805,NM_024686 MIR548AP,TTLL7 EXON Silent,Synonymous_P595P exm70782 1 84383302 [A/C] NM_024686 TTLL7 EXON Missense_K524N exm70816 1 84415626 [T/A] NM_024686 TTLL7 EXON Missense_D67E exm70817 1 84415640 [T/C] NM_024686 TTLL7 EXON Missense_M63V exm70821 1 84417585 [T/C] NM_024686 TTLL7 EXON Missense_K34E exm70822 1 84417642 [A/G] NM_024686 TTLL7 EXON Missense_P15S exm70824 1 84417879 [C/G] NM_024686 TTLL7 EXON Missense_Q6E exm2253446 1 84555908 [T/C] NM_207578,NM_002731 PRKACB,PRKACB Silent,Silent exm70843 1 84662335 [A/G] NM_207578,NM_002731,NM_182948,NM_001242859,NM_001242858,NM_001242857,NM_001242860,NM_001242861,NM_001242862 PRKACB,PRKACB,PRKACB,PRKACB,PRKACB,PRKACB,PRKACB,PRKACB,PRKACB EXON Synonymous_V152V,Synonymous_V152V,Synonymous_V199V,Synonymous_V156V,Synonymous_V140V,Synonymous_V159V,Synonymous_V158V,Synonymous_V122V,Synonymous_V139V exm2253450 1 84662335 [A/G] NM_207578,NM_002731,NM_182948,NM_001242859,NM_001242858,NM_001242857,NM_001242860,NM_001242861,NM_001242862 PRKACB,PRKACB,PRKACB,PRKACB,PRKACB,PRKACB,PRKACB,PRKACB,PRKACB EXON Synonymous_V152V,Synonymous_V152V,Synonymous_V199V,Synonymous_V156V,Synonymous_V140V,Synonymous_V159V,Synonymous_V158V,Synonymous_V122V,Synonymous_V139V exm70852 1 84679969 [T/C] NM_002731,NM_182948,NM_001242859,NM_001242858,NM_001242857,NM_001242860,NM_001242861,NM_001242862 PRKACB,PRKACB,PRKACB,PRKACB,PRKACB,PRKACB,PRKACB,PRKACB EXON Missense_T300M,Missense_T347M,Missense_T304M,Missense_T288M,Missense_T307M,Missense_T306M,Missense_T270M,Missense_T287M exm-rs1085093 1 84761348 [T/C] exm70869 1 84764249 [A/G] NM_001010971 SAMD13 EXON Synonymous_G3G exm70876 1 84768912 [T/C] NM_001010971,NM_001134663,NM_001134664 SAMD13,SAMD13,SAMD13 EXON Missense_L13F,Silent,Silent exm70895 1 84864256 [G/C] NM_021233 DNASE2B EXON Missense_Q3H exm70908 1 84867741 [T/C] NM_021233 DNASE2B EXON Missense_Y95H exm70909 1 84867754 [C/G] NM_021233 DNASE2B EXON Missense_A99G exm70911 1 84874162 [T/A] NM_021233,NM_058248 DNASE2B,DNASE2B EXON Nonsense_K116X,Silent exm70918 1 84876560 [T/G] NM_021233,NM_058248 DNASE2B,DNASE2B EXON Missense_I142S,Silent exm70925 1 84876680 [T/C] NM_021233,NM_058248 DNASE2B,DNASE2B EXON Missense_I182T,Silent exm70930 1 84880273 [T/C] NM_021233,NM_058248 DNASE2B,DNASE2B EXON Nonsense_R270X,Nonsense_R62X exm70936 1 84880427 [A/G] NM_021233,NM_058248 DNASE2B,DNASE2B EXON Missense_C321Y,Missense_C113Y exm70941 1 84944975 [T/C] NM_025065 RPF1 EXON Missense_A4V exm70942 1 84944978 [A/G] NM_025065 RPF1 EXON Missense_G5E exm70950 1 84945034 [A/G] NM_025065 RPF1 EXON Missense_E24K exm70953 1 84945097 [C/G] NM_025065 RPF1 EXON Missense_A45P exm70958 1 84945179 [A/G] NM_025065 RPF1 EXON Missense_Q72R exm70961 1 84948653 [A/C] NM_025065 RPF1 EXON Missense_T114N exm70967 1 84956035 [A/G] NM_025065 RPF1 EXON Missense_V166I exm70969 1 84956143 [T/C] NM_025065 RPF1 EXON Missense_R202C exm70970 1 84956144 [A/G] NM_025065 RPF1 EXON Missense_R202H exm70975 1 84961108 [A/G] NM_025065 RPF1 EXON Missense_M223I exm70976 1 84961119 [A/G] NM_025065 RPF1 EXON Missense_R227H exm70977 1 84961140 [T/C] NM_025065 RPF1 Silent exm70981 1 84961668 [T/C] NM_025065 RPF1 EXON Missense_P268L exm70988 1 84962049 [A/G] NM_025065 RPF1 EXON Missense_H335R exm70991 1 84963142 [T/C] NM_025065 RPF1 EXON Missense_F347L exm1914057 1 84967545 [T/C] NM_005274 GNG5 EXON Missense_V64I exm71046 1 85020683 [C/G] NM_004388 CTBS EXON Missense_X386S exm71047 1 85020695 [A/G] NM_004388 CTBS EXON Missense_L382P exm71051 1 85020803 [T/C] NM_004388 CTBS EXON Missense_Y346C exm71053 1 85028969 [A/C] NM_004388 CTBS EXON Missense_D310Y exm71054 1 85029010 [T/G] NM_004388 CTBS EXON Missense_K296T exm71059 1 85029067 [T/C] NM_004388 CTBS EXON Missense_R277Q exm71060 1 85029068 [A/G] NM_004388 CTBS EXON Missense_R277W exm71061 1 85029077 [T/C] NM_004388 CTBS EXON Missense_V274I exm71062 1 85029085 [A/G] NM_004388 CTBS EXON Missense_I271T exm71063 1 85029100 [T/C] NM_004388 CTBS EXON Missense_D266G exm71066 1 85029489 [A/T] NM_004388 CTBS EXON Missense_I242F exm71079 1 85035634 [T/G] NM_004388 CTBS EXON Missense_R169S exm71083 1 85035754 [A/C] NM_004388 CTBS EXON Missense_L129V exm71085 1 85035772 [T/G] NM_004388 CTBS EXON Missense_I123L exm2233874 1 85035778 [A/C] NM_004388 CTBS EXON Missense_S121A exm2233875 1 85036315 [A/G] NM_004388 CTBS EXON Missense_S89L exm71114 1 85113229 [A/G] NM_014021,NM_001166417,NM_001166295,NM_001166293,NM_001166294 SSX2IP,SSX2IP,SSX2IP,SSX2IP,SSX2IP EXON Missense_C578R,Missense_C578R,Missense_C551R,Missense_C578R,Missense_C551R exm71121 1 85116142 [G/C] NM_014021,NM_001166417,NM_001166295,NM_001166293,NM_001166294 SSX2IP,SSX2IP,SSX2IP,SSX2IP,SSX2IP EXON Missense_G525R,Missense_G525R,Missense_G498R,Missense_G525R,Missense_G498R exm2233876 1 85116153 [T/C] NM_014021,NM_001166417,NM_001166295,NM_001166293,NM_001166294 SSX2IP,SSX2IP,SSX2IP,SSX2IP,SSX2IP EXON Missense_S521N,Missense_S521N,Missense_S494N,Missense_S521N,Missense_S494N exm71145 1 85124142 [T/C] NM_014021,NM_001166417,NM_001166295,NM_001166293,NM_001166294 SSX2IP,SSX2IP,SSX2IP,SSX2IP,SSX2IP EXON Missense_D313N,Missense_D313N,Missense_D286N,Missense_D313N,Missense_D286N exm71174 1 85136884 [T/C] NM_014021,NM_001166417,NM_001166295,NM_001166293,NM_001166294 SSX2IP,SSX2IP,SSX2IP,SSX2IP,SSX2IP EXON Missense_V7I,Missense_V7I,Silent,Missense_V7I,Silent exm2260778 1 85206477 [T/C] exm2268717 1 85213900 [T/C] exm71182 1 85279636 [A/G] NM_012152 LPAR3 EXON Missense_R319C exm71186 1 85279729 [T/C] NM_012152 LPAR3 EXON Missense_V288M exm71192 1 85279851 [A/G] NM_012152 LPAR3 EXON Missense_A247V exm1914365 1 85279852 [T/C] NM_012152 LPAR3 EXON Missense_A247T exm-rs1983853 1 85311192 [T/C] NM_012152 LPAR3 Silent exm2268718 1 85316840 [T/G] NM_012152 LPAR3 Silent exm71194 1 85331112 [T/C] NM_012152 LPAR3 EXON Missense_R231Q exm1914426 1 85331173 [T/C] NM_012152 LPAR3 EXON Missense_V211M exm71210 1 85331400 [T/C] NM_012152 LPAR3 EXON Missense_R135Q exm71212 1 85331431 [T/C] NM_012152 LPAR3 EXON Missense_V125M exm71248 1 85397076 [A/G] NM_153259 MCOLN2 EXON Missense_A504V exm71270 1 85405238 [T/G] NM_153259 MCOLN2 EXON Missense_K370Q exm71271 1 85405243 [T/A] NM_153259 MCOLN2 EXON Missense_K368I exm71272 1 85405253 [T/C] NM_153259 MCOLN2 EXON Missense_M365V exm71273 1 85405268 [A/C] NM_153259 MCOLN2 EXON Missense_G360C exm71278 1 85406567 [A/G] NM_153259 MCOLN2 EXON Missense_R319W exm71286 1 85412716 [T/A] NM_153259 MCOLN2 EXON Missense_T283S exm71287 1 85412722 [T/C] NM_153259 MCOLN2 EXON Missense_G281R exm71290 1 85412803 [A/T] NM_153259 MCOLN2 EXON Missense_N254Y exm71291 1 85417927 [A/G] NM_153259 MCOLN2 EXON Missense_T249M exm71324 1 85431317 [T/C] NM_153259 MCOLN2 EXON Missense_S51N exm71330 1 85462498 [T/C] NM_153259 MCOLN2 EXON Missense_V20I exm1914629 1 85484931 [T/G] NM_001253693,NM_018298 MCOLN3,MCOLN3 EXON Missense_Q457K,Missense_Q513K exm1914635 1 85487850 [A/G] NM_001253693,NM_018298 MCOLN3,MCOLN3 EXON Missense_A352V,Missense_A408V exm71360 1 85487982 [A/G] NM_001253693,NM_018298 MCOLN3,MCOLN3 EXON Synonymous_N343N,Synonymous_N399N exm71363 1 85488011 [A/G] NM_001253693,NM_018298 MCOLN3,MCOLN3 EXON Nonsense_R334X,Nonsense_R390X exm71365 1 85488072 [A/C] NM_001253693,NM_018298 MCOLN3,MCOLN3 EXON Missense_S313R,Missense_S369R exm71382 1 85498408 [G/C] NM_001253693,NM_018298 MCOLN3,MCOLN3 EXON Missense_L179V,Missense_L235V exm71386 1 85498555 [T/C] NM_001253693,NM_018298 MCOLN3,MCOLN3 EXON Missense_R156K,Missense_R212K exm71387 1 85498591 [A/G] NM_001253693,NM_018298 MCOLN3,MCOLN3 EXON Missense_A144V,Missense_A200V exm1914650 1 85499832 [T/C] NM_001253693,NM_018298 MCOLN3,MCOLN3 EXON Missense_N111D,Missense_N167D exm71394 1 85499910 [T/C] NM_001253693,NM_018298 MCOLN3,MCOLN3 EXON Missense_V85I,Missense_V141I exm71404 1 85510898 [G/C] NM_001253693,NM_018298 MCOLN3,MCOLN3 EXON Missense_P49R,Missense_P49R exm71411 1 85510965 [A/C] NM_001253693,NM_018298 MCOLN3,MCOLN3 EXON Missense_S27A,Missense_S27A exm71412 1 85510985 [T/C] NM_001253693,NM_018298 MCOLN3,MCOLN3 EXON Missense_C20Y,Missense_C20Y exm71413 1 85510988 [T/C] NM_001253693,NM_018298 MCOLN3,MCOLN3 EXON Missense_R19H,Missense_R19H exm-IND1-85310248 1 85537661 [I/D] NM_145172 WDR63 EXON exm71423 1 85546976 [T/C] NM_145172 WDR63 EXON Nonsense_R55X exm1914805 1 85546984 [A/T] NM_145172 WDR63 EXON Missense_D57E exm71437 1 85551538 [T/C] NM_145172 WDR63 EXON Nonsense_R189X exm71442 1 85551595 [C/G] NM_145172 WDR63 EXON Missense_D208H exm71445 1 85555822 [T/C] NM_145172 WDR63 EXON Missense_T255M exm71449 1 85559205 [A/G] NM_145172 WDR63 EXON Missense_A308T exm71452 1 85559271 [A/G] NM_145172 WDR63 EXON Missense_D330N exm2233887 1 85563277 [A/C] NM_145172 WDR63 EXON Missense_H430P exm71483 1 85583460 [T/C] NM_145172 WDR63 EXON Missense_P612L exm71487 1 85589842 [A/G] NM_145172 WDR63 EXON Missense_T674A exm71493 1 85589914 [A/G] NM_145172 WDR63 EXON Missense_I698V exm71504 1 85592353 [A/C] NM_145172 WDR63 EXON Missense_I758L exm71505 1 85592362 [A/G] NM_145172 WDR63 EXON Missense_T761A exm71508 1 85594392 [T/C] NM_145172 WDR63 EXON Synonymous_S773S exm71509 1 85594430 [C/G] NM_145172 WDR63 EXON Missense_T786R exm71511 1 85594466 [A/G] NM_145172 WDR63 EXON Missense_R798H exm71521 1 85598596 [A/G] NM_145172 WDR63 EXON Missense_S864N exm71527 1 85624470 [T/C] NM_032184 SYDE2 EXON Missense_R1183H exm71528 1 85624512 [A/T] NM_032184 SYDE2 EXON Missense_D1169V exm71530 1 85624549 [T/C] NM_032184 SYDE2 EXON Missense_V1157I exm71534 1 85624690 [T/C] NM_032184 SYDE2 EXON Missense_V1110M exm71538 1 85624837 [T/C] NM_032184 SYDE2 EXON Missense_M1061V exm71544 1 85634847 [A/C] NM_032184 SYDE2 EXON Missense_E911D exm71551 1 85643954 [A/G] NM_032184 SYDE2 EXON Missense_V849A exm71560 1 85647999 [C/G] NM_032184 SYDE2 EXON Missense_H776D exm71575 1 85648554 [A/G] NM_032184 SYDE2 EXON Nonsense_R591X exm71578 1 85648620 [T/C] NM_032184 SYDE2 EXON Missense_V569I exm71579 1 85648625 [T/C] NM_032184 SYDE2 EXON Missense_R567Q exm71581 1 85648692 [T/C] NM_032184 SYDE2 EXON Missense_V545I exm71587 1 85648873 [G/C] NM_032184 SYDE2 EXON Missense_I484M exm71589 1 85655854 [T/C] NM_032184 SYDE2 EXON Missense_I443V exm71592 1 85655902 [T/C] NM_032184 SYDE2 EXON Missense_E427K exm71594 1 85655916 [A/G] NM_032184 SYDE2 EXON Missense_S422L exm71597 1 85656121 [A/G] NM_032184 SYDE2 EXON Missense_C354R exm71601 1 85656289 [C/G] NM_032184 SYDE2 EXON Missense_P298A exm71604 1 85656369 [A/G] NM_032184 SYDE2 EXON Missense_I271T exm71606 1 85656408 [A/G] NM_032184 SYDE2 EXON Missense_S258L exm71607 1 85656409 [A/G] NM_032184 SYDE2 EXON Missense_S258P exm71608 1 85656421 [T/C] NM_032184 SYDE2 EXON Missense_A254T exm71611 1 85665973 [T/A] NM_032184 SYDE2 EXON Missense_V236D exm1915100 1 85666118 [T/C] NM_032184 SYDE2 EXON Missense_V188I exm71617 1 85666156 [T/G] NM_032184 SYDE2 EXON Missense_Q175P exm1915101 1 85666163 [A/C] NM_032184 SYDE2 EXON Missense_D173Y exm71636 1 85718340 [A/G] NR_024113,NM_198077 C1orf52,C1orf52 EXON Silent,Missense_P174L exm71639 1 85724289 [T/C] NR_024113,NM_198077 C1orf52,C1orf52 EXON Silent,Missense_I131M exm71646 1 85725118 [T/C] NR_024113,NM_198077 C1orf52,C1orf52 EXON Silent,Missense_T67A exm71656 1 85733374 [T/C] NM_003921 BCL10 EXON Missense_G213E exm71666 1 85736358 [G/C] NM_003921 BCL10 EXON Missense_Q97E exm71672 1 85736384 [T/C] NM_003921 BCL10 EXON Missense_R88Q exm71673 1 85736387 [T/C] NM_003921 BCL10 EXON Missense_R87Q exm71678 1 85742023 [A/C] NM_003921 BCL10 EXON Missense_A5S exm1915228 1 85790511 [A/G] NM_012137,NM_001134445 DDAH1,DDAH1 EXON Missense_I218T,Missense_I115T exm71693 1 85790541 [T/C] NM_012137,NM_001134445 DDAH1,DDAH1 EXON Missense_R208H,Missense_R105H exm71696 1 85816136 [T/C] NM_012137,NM_001134445 DDAH1,DDAH1 EXON Missense_A187T,Missense_A84T exm71716 1 85930469 [A/G] NM_012137,NM_001134445 DDAH1,DDAH1 EXON Missense_T87M,Silent exm71718 1 85930482 [C/G] NM_012137,NM_001134445 DDAH1,DDAH1 EXON Missense_V83L,Silent exm71721 1 85930530 [C/G] NM_012137,NM_001134445 DDAH1,DDAH1 EXON Missense_A67P,Silent exm2268908 1 85970975 [T/G] NM_001134445 DDAH1 Silent exm71756 1 86048526 [C/G] NM_001554 CYR61 EXON Missense_S316C exm71758 1 86048579 [T/C] NM_001554 CYR61 EXON Missense_R334W exm2253499 1 86048659 [A/G] NM_001554 CYR61 EXON Synonymous_P360P exm71763 1 86048692 [T/G] NM_001554 CYR61 EXON Missense_R371S exm71777 1 86123563 [T/C] NM_001170670,NM_017953 ZNHIT6,ZNHIT6 EXON Missense_G408R,Missense_G447R exm71787 1 86144451 [T/G] NM_001170670,NM_017953 ZNHIT6,ZNHIT6 EXON Missense_K329Q,Missense_K368Q exm1915864 1 86167856 [T/C] NM_001170670,NM_017953 ZNHIT6,ZNHIT6 EXON Missense_T296A,Missense_T335A exm71798 1 86171840 [T/C] NM_001170670,NM_017953 ZNHIT6,ZNHIT6 EXON Missense_R240Q,Missense_R279Q exm71800 1 86171945 [G/C] NM_001170670,NM_017953 ZNHIT6,ZNHIT6 EXON Missense_M233I,Missense_M272I exm71802 1 86171988 [T/C] NM_001170670,NM_017953 ZNHIT6,ZNHIT6 EXON Missense_R219Q,Missense_R258Q exm2253504 1 86172163 [T/C] NM_001170670,NM_017953 ZNHIT6,ZNHIT6 EXON Synonymous_A189A,Synonymous_A228A exm71810 1 86172163 [T/C] NM_001170670,NM_017953 ZNHIT6,ZNHIT6 EXON Synonymous_A189A,Synonymous_A228A exm71826 1 86173744 [A/C] NM_001170670,NM_017953 ZNHIT6,ZNHIT6 EXON Missense_L75R,Missense_L75R exm71827 1 86173753 [A/G] NM_001170670,NM_017953 ZNHIT6,ZNHIT6 EXON Missense_P72L,Missense_P72L exm71839 1 86173943 [T/C] NM_001170670,NM_017953 ZNHIT6,ZNHIT6 EXON Missense_G9R,Missense_G9R exm71844 1 86196270 [A/G] NM_152890 COL24A1 EXON Nonsense_R1702X exm71846 1 86196305 [A/G] NM_152890 COL24A1 EXON Missense_I1690T exm71849 1 86200461 [G/C] NM_152890 COL24A1 EXON Missense_E1657Q exm71851 1 86200509 [T/C] NM_152890 COL24A1 EXON Missense_G1641S exm2233895 1 86200556 [A/G] NM_152890 COL24A1 EXON Missense_T1625I exm71866 1 86210409 [A/G] NM_152890 COL24A1 EXON Nonsense_R1538X exm71872 1 86211182 [T/A] NM_152890 COL24A1 EXON Missense_M1482K exm71879 1 86241379 [T/C] NM_152890 COL24A1 EXON Missense_E1451G exm71883 1 86249192 [T/G] NM_152890 COL24A1 EXON Missense_P1424H exm71891 1 86249998 [G/C] NM_152890 COL24A1 EXON Missense_R1371G exm1915915 1 86252084 [T/C] NM_152890 COL24A1 EXON Missense_K1338E exm71904 1 86283736 [G/C] NM_152890 COL24A1 EXON Missense_S1275C exm2277142 1 86289269 [T/C] NM_152890 COL24A1 EXON Missense_E1247K exm71911 1 86289373 [T/G] NM_152890 COL24A1 EXON Missense_P1244T exm71913 1 86304282 [T/C] NM_152890 COL24A1 EXON Missense_A1223T exm71914 1 86304311 [G/C] NM_152890 COL24A1 EXON Missense_G1213A exm71929 1 86334302 [C/G] NM_152890 COL24A1 EXON Missense_P1067R exm71932 1 86334472 [A/C] NM_152890 COL24A1 EXON Missense_G1062V exm71954 1 86355295 [T/C] NM_152890 COL24A1 EXON Missense_G975D exm71956 1 86361571 [T/G] NM_152890 COL24A1 EXON Missense_N964K exm71968 1 86374318 [T/G] NM_152890 COL24A1 EXON Missense_P896H exm71976 1 86377073 [A/G] NM_152890 COL24A1 EXON Missense_I869T exm71982 1 86435932 [T/G] NM_152890 COL24A1 EXON Missense_A814D exm2268719 1 86457334 [T/C] NM_152890 COL24A1 Silent exm72000 1 86487952 [A/G] NM_152890 COL24A1 EXON Missense_P743S exm72002 1 86487957 [A/C] NM_152890 COL24A1 EXON Missense_G741V exm72005 1 86488232 [A/G] NM_152890 COL24A1 EXON Missense_P731S exm2253513 1 86488239 [A/G] NM_152890 COL24A1 EXON Synonymous_P728P exm72011 1 86488559 [A/C] NM_152890 COL24A1 EXON Missense_G702V exm72014 1 86488689 [T/C] NM_152890 COL24A1 EXON Missense_G684D exm72017 1 86499587 [A/C] NM_152890 COL24A1 EXON Missense_G657V exm72022 1 86512531 [T/G] NM_152890 COL24A1 EXON Missense_K643Q exm72023 1 86512536 [T/C] NM_152890 COL24A1 EXON Missense_R641H exm72024 1 86515808 [T/C] NM_152890 COL24A1 EXON Missense_R635Q exm72037 1 86557967 [A/G] NM_152890 COL24A1 EXON Missense_P546S exm2275458 1 86590578 [T/C] NM_152890 COL24A1 EXON Missense_M481V exm2233897 1 86590670 [T/C] NM_152890 COL24A1 EXON Missense_E450G exm72061 1 86590940 [T/C] NM_152890 COL24A1 EXON Missense_K360R exm72064 1 86590955 [T/C] NM_152890 COL24A1 EXON Missense_R355H exm72065 1 86590956 [A/G] NM_152890 COL24A1 EXON Missense_R355C exm72066 1 86590959 [A/G] NM_152890 COL24A1 EXON Missense_H354Y exm72069 1 86591001 [T/C] NM_152890 COL24A1 EXON Missense_E340K exm72072 1 86591036 [T/G] NM_152890 COL24A1 EXON Missense_T328K exm72076 1 86591105 [T/C] NM_152890 COL24A1 EXON Missense_Q305R exm72077 1 86591141 [A/G] NM_152890 COL24A1 EXON Missense_I293T exm72078 1 86591142 [T/C] NM_152890 COL24A1 EXON Missense_I293V exm72079 1 86591147 [T/G] NM_152890 COL24A1 EXON Missense_P291Q exm72080 1 86591161 [T/G] NM_152890 COL24A1 EXON Missense_E286D exm72085 1 86591291 [T/C] NM_152890 COL24A1 EXON Missense_R243H exm1916113 1 86591417 [T/C] NM_152890 COL24A1 EXON Missense_S201N exm72092 1 86591567 [A/G] NM_152890 COL24A1 EXON Missense_P151L exm72094 1 86591672 [T/C] NM_152890 COL24A1 EXON Missense_R116Q exm72097 1 86591736 [T/C] NM_152890 COL24A1 EXON Missense_V95M exm72104 1 86591837 [A/G] NM_152890 COL24A1 EXON Missense_A61V exm2275214 1 86622024 [A/G] NM_152890 COL24A1 EXON Missense_T19M exm72127 1 86818544 [T/C] NM_001184766,NM_001184765,NM_001007022,NM_020729 ODF2L,ODF2L,ODF2L,ODF2L EXON Missense_S549G,Missense_S578G,Missense_S631G,Missense_S615G exm72134 1 86818610 [T/A] NM_001184766,NM_001184765,NM_001007022,NM_020729 ODF2L,ODF2L,ODF2L,ODF2L EXON Missense_L527I,Missense_L556I,Missense_L609I,Missense_L593I exm72135 1 86818637 [T/C] NM_001184766,NM_001184765,NM_001007022,NM_020729 ODF2L,ODF2L,ODF2L,ODF2L EXON Missense_R518G,Missense_R547G,Missense_R600G,Missense_R584G exm72147 1 86822204 [T/C] NM_001184766,NM_001184765,NM_001007022,NM_020729 ODF2L,ODF2L,ODF2L,ODF2L EXON Silent,Silent,Missense_E481K,Missense_E452K exm2253528 1 86822226 [T/C] NM_001184766,NM_001184765,NM_001007022,NM_020729 ODF2L,ODF2L,ODF2L,ODF2L EXON Silent,Silent,Synonymous_T473T,Synonymous_T444T exm72154 1 86822245 [T/C] NM_001184766,NM_001184765,NM_001007022,NM_020729 ODF2L,ODF2L,ODF2L,ODF2L EXON Silent,Silent,Missense_R467H,Missense_R438H exm72155 1 86822246 [A/G] NM_001184766,NM_001184765,NM_001007022,NM_020729 ODF2L,ODF2L,ODF2L,ODF2L EXON Silent,Silent,Missense_R467C,Missense_R438C exm72157 1 86822287 [T/G] NM_001184766,NM_001184765,NM_001007022,NM_020729 ODF2L,ODF2L,ODF2L,ODF2L Silent,Silent,Silent,Silent exm72163 1 86824496 [T/C] NM_001184766,NM_001184765,NM_001007022,NM_020729 ODF2L,ODF2L,ODF2L,ODF2L EXON Missense_K416E,Missense_K445E,Missense_K445E,Missense_K416E exm72169 1 86834369 [T/C] NM_001184766,NM_001184765,NM_001007022,NM_020729 ODF2L,ODF2L,ODF2L,ODF2L EXON Silent,Missense_M365V,Missense_M365V,Silent exm72173 1 86836816 [T/C] NM_001184766,NM_001184765,NM_001007022,NM_020729 ODF2L,ODF2L,ODF2L,ODF2L EXON Missense_E314G,Missense_E314G,Missense_E314G,Missense_E314G exm72189 1 86842044 [T/C] NM_001184766,NM_001184765,NM_001007022,NM_020729 ODF2L,ODF2L,ODF2L,ODF2L EXON Missense_A228T,Missense_A228T,Missense_A228T,Missense_A228T exm72201 1 86847974 [T/C] NM_001184766,NM_001184765,NM_001007022,NM_020729 ODF2L,ODF2L,ODF2L,ODF2L EXON Missense_Q192R,Missense_Q192R,Missense_Q192R,Missense_Q192R exm72202 1 86847987 [A/G] NM_001184766,NM_001184765,NM_001007022,NM_020729 ODF2L,ODF2L,ODF2L,ODF2L EXON Nonsense_R188X,Nonsense_R188X,Nonsense_R188X,Nonsense_R188X exm72205 1 86848019 [T/C] NM_001184766,NM_001184765,NM_001007022,NM_020729 ODF2L,ODF2L,ODF2L,ODF2L EXON Missense_R177H,Missense_R177H,Missense_R177H,Missense_R177H exm72220 1 86852608 [A/G] NM_001184766,NM_001184765,NM_001007022,NM_020729 ODF2L,ODF2L,ODF2L,ODF2L EXON Missense_H35Y,Missense_H35Y,Missense_H35Y,Missense_H35Y exm72222 1 86852625 [T/C] NM_001184766,NM_001184765,NM_001007022,NM_020729 ODF2L,ODF2L,ODF2L,ODF2L EXON Missense_R29Q,Missense_R29Q,Missense_R29Q,Missense_R29Q exm72242 1 86889944 [A/G] NM_006536 CLCA2 EXON Missense_S5N exm72255 1 86891073 [A/G] NM_006536 CLCA2 EXON Missense_V80I exm72264 1 86894231 [T/C] NM_006536 CLCA2 EXON Missense_T152I exm72279 1 86898101 [T/C] NM_006536 CLCA2 EXON Missense_P212S exm72291 1 86900372 [C/G] NM_006536 CLCA2 EXON Missense_Q306E exm2273658 1 86904587 [A/C] NM_006536 CLCA2 EXON Missense_A334D exm72299 1 86904597 [T/G] NM_006536 CLCA2 EXON Missense_F337L exm72300 1 86904620 [T/C] NM_006536 CLCA2 EXON Missense_I345T exm72301 1 86904649 [T/G] NM_006536 CLCA2 EXON Missense_D355Y exm72302 1 86904655 [A/G] NM_006536 CLCA2 EXON Missense_K357E exm72305 1 86904731 [T/C] NM_006536 CLCA2 EXON Missense_T382I exm72310 1 86905888 [A/G] NM_006536 CLCA2 EXON Missense_G421R exm72312 1 86905915 [T/A] NM_006536 CLCA2 EXON Missense_L430I exm72317 1 86906000 [A/G] NM_006536 CLCA2 EXON Missense_R458H exm72318 1 86906009 [A/G] NM_006536 CLCA2 Silent exm72322 1 86907149 [A/T] NM_006536 CLCA2 EXON Missense_S471T exm72325 1 86907225 [A/G] NM_006536 CLCA2 EXON Missense_Q496R exm72328 1 86909504 [A/G] NM_006536 CLCA2 EXON Missense_H508R exm72330 1 86909555 [T/C] NM_006536 CLCA2 EXON Missense_M525T exm72333 1 86909582 [A/G] NM_006536 CLCA2 EXON Missense_G534D exm72355 1 86913377 [T/C] NM_006536 CLCA2 EXON Missense_P634S exm72363 1 86916350 [A/G] NM_006536 CLCA2 EXON Missense_I697V exm72365 1 86916415 [T/C] NM_006536 CLCA2 EXON Synonymous_N718N exm72368 1 86919111 [T/C] NM_006536 CLCA2 EXON Missense_W739R exm72375 1 86920813 [A/G] NM_006536 CLCA2 EXON Missense_Q812R exm72376 1 86920833 [A/G] NM_006536 CLCA2 EXON Missense_I819V exm72377 1 86920855 [A/G] NM_006536 CLCA2 EXON Missense_R826Q exm72378 1 86920891 [T/C] NM_006536 CLCA2 EXON Missense_T838M exm1916512 1 86920912 [T/C] NM_006536 CLCA2 EXON Missense_T845M exm72383 1 86920977 [T/C] NM_006536 CLCA2 EXON Nonsense_R867X exm72385 1 86921002 [A/G] NM_006536 CLCA2 EXON Missense_Q875R exm72387 1 86921046 [T/C] NM_006536 CLCA2 EXON Missense_P890S exm1916519 1 86934676 [G/C] NM_001285 CLCA1 EXON Missense_V8L exm72395 1 86934698 [T/C] NM_001285 CLCA1 EXON Missense_L15P exm72401 1 86939130 [T/C] NM_001285 CLCA1 EXON Missense_L65F exm72407 1 86939461 [A/G] NM_001285 CLCA1 EXON Missense_Y118C exm72411 1 86939540 [A/T] NM_001285 CLCA1 EXON Missense_L144F exm72415 1 86942184 [T/C] NM_001285 CLCA1 EXON Missense_Y169H exm72421 1 86948016 [A/C] NM_001285 CLCA1 EXON Missense_S229Y exm72427 1 86951099 [A/G] NM_001285 CLCA1 EXON Missense_R270Q exm72433 1 86952219 [A/G] NM_001285 CLCA1 EXON Missense_R322H exm72436 1 86952324 [A/G] NM_001285 CLCA1 EXON Missense_N357S exm72437 1 86952407 [A/G] NM_001285 CLCA1 EXON Missense_I385V exm72456 1 86959173 [T/C] NM_001285 CLCA1 EXON Missense_M524T exm72464 1 86959928 [T/C] NM_001285 CLCA1 EXON Missense_T580M exm72466 1 86959979 [T/C] NM_001285 CLCA1 EXON Missense_T597M exm72468 1 86960014 [A/G] NM_001285 CLCA1 EXON Missense_V609I exm72474 1 86960099 [T/C] NM_001285 CLCA1 EXON Missense_T637I exm72478 1 86961226 [T/C] NM_001285 CLCA1 EXON Missense_Y661H exm72480 1 86961274 [A/G] NM_001285 CLCA1 EXON Missense_A677T exm72482 1 86961291 [C/G] NM_001285 CLCA1 EXON Missense_N682K exm72486 1 86961302 [A/G] NM_001285 CLCA1 EXON Missense_R686Q exm2233904 1 86964276 [T/C] NM_001285 CLCA1 EXON Missense_P712L exm72499 1 86965343 [A/G] NM_001285 CLCA1 EXON Missense_K787R exm72504 1 86965595 [T/C] NM_001285 CLCA1 EXON Missense_P871L exm72508 1 86965622 [T/C] NM_001285 CLCA1 EXON Missense_T880M exm72516 1 87012929 [T/C] NR_024602,NM_012128 CLCA4,CLCA4 EXON Silent,Missense_P43S exm2265024 1 87015179 [A/G] NR_024602,NM_012128 CLCA4,CLCA4 Silent,Silent exm72520 1 87025754 [A/G] NR_024602,NM_012128 CLCA4,CLCA4 EXON Silent,Missense_H100R exm72525 1 87025994 [T/C] NR_024602,NM_012128 CLCA4,CLCA4 EXON Silent,Missense_T134I exm72526 1 87026002 [T/C] NR_024602,NM_012128 CLCA4,CLCA4 EXON Silent,Missense_L137F exm72527 1 87026017 [A/C] NR_024602,NM_012128 CLCA4,CLCA4 EXON Silent,Missense_K142Q exm72535 1 87030974 [A/C] NR_024602,NM_012128 CLCA4,CLCA4 EXON Silent,Missense_S192Y exm2233906 1 87031069 [G/C] NR_024602,NM_012128 CLCA4,CLCA4 EXON Silent,Missense_Q224E exm72549 1 87031656 [A/C] NR_024602,NM_012128 CLCA4,CLCA4 EXON Silent,Missense_S303R exm72550 1 87033116 [T/C] NR_024602,NM_012128 CLCA4,CLCA4 EXON Silent,Missense_R322C exm72553 1 87033242 [A/C] NR_024602,NM_012128 CLCA4,CLCA4 EXON Silent,Missense_S364R exm72556 1 87033294 [A/G] NR_024602,NM_012128 CLCA4,CLCA4 EXON Silent,Missense_G381E exm72572 1 87038327 [T/C] NR_024602,NM_012128 CLCA4,CLCA4 EXON Silent,Missense_A464V exm72573 1 87038331 [G/C] NR_024602,NM_012128 CLCA4,CLCA4 EXON Silent,Missense_Q465H exm72574 1 87038350 [A/G] NR_024602,NM_012128 CLCA4,CLCA4 EXON Silent,Missense_A472T exm72577 1 87038389 [T/C] NR_024602,NM_012128 CLCA4,CLCA4 EXON Silent,Nonsense_Q485X exm1916800 1 87038403 [A/G] NR_024602,NM_012128 CLCA4,CLCA4 EXON Silent,Synonymous_Q489Q exm2233907 1 87040229 [A/G] NR_024602,NM_012128 CLCA4,CLCA4 EXON Silent,Missense_S492G exm72586 1 87040374 [T/C] NR_024602,NM_012128 CLCA4,CLCA4 EXON Silent,Missense_M540T exm72598 1 87041255 [A/G] NR_024602,NM_012128 CLCA4,CLCA4 EXON Silent,Missense_V642I exm2233908 1 87043586 [T/C] NR_024602,NM_012128 CLCA4,CLCA4 EXON Silent,Synonymous_G651G exm72602 1 87043726 [T/C] NR_024602,NM_012128 CLCA4,CLCA4 EXON Silent,Missense_A698V exm72603 1 87043728 [A/G] NR_024602,NM_012128 CLCA4,CLCA4 EXON Silent,Missense_A699T exm72616 1 87045696 [G/C] NR_024602,NM_012128 CLCA4,CLCA4 EXON Silent,Missense_V810L exm72617 1 87045727 [G/C] NR_024602,NM_012128 CLCA4,CLCA4 EXON Silent,Missense_A820G exm72620 1 87045799 [T/C] NR_024602,NM_012128 CLCA4,CLCA4 EXON Silent,Missense_A844V exm72627 1 87045964 [T/C] NR_024602,NM_012128 CLCA4,CLCA4 EXON Silent,Missense_T899M exm2263827 1 87156469 [A/C] exm72671 1 87185190 [A/G] NM_001206651,NM_001206653,NM_001206652,NM_016009 SH3GLB1,SH3GLB1,SH3GLB1,SH3GLB1 EXON Missense_N72S,Silent,Missense_N72S,Missense_N72S exm72673 1 87185250 [A/G] NM_001206651,NM_001206653,NM_001206652,NM_016009 SH3GLB1,SH3GLB1,SH3GLB1,SH3GLB1 EXON Missense_N92S,Silent,Missense_N92S,Missense_N92S exm72683 1 87194101 [T/C] NM_001206651,NM_001206653,NM_001206652,NM_016009 SH3GLB1,SH3GLB1,SH3GLB1,SH3GLB1 EXON Missense_R196C,Silent,Missense_R196C,Silent exm2253540 1 87208092 [T/C] NM_001206651,NM_001206653,NM_001206652,NM_016009 SH3GLB1,SH3GLB1,SH3GLB1,SH3GLB1 EXON Synonymous_S350S,Synonymous_S221S,Synonymous_S342S,Synonymous_S321S exm72698 1 87208092 [T/C] NM_001206651,NM_001206653,NM_001206652,NM_016009 SH3GLB1,SH3GLB1,SH3GLB1,SH3GLB1 EXON Synonymous_S350S,Synonymous_S221S,Synonymous_S342S,Synonymous_S321S exm72701 1 87329165 [A/G] NM_203341,NM_004261 SEP15,SEP15 EXON Silent,Missense_R164C exm72703 1 87329250 [A/G] NM_203341,NM_004261 SEP15,SEP15 EXON Nonsense_R119X,Synonymous_D135D exm72709 1 87369103 [A/G] NM_203341,NM_004261 SEP15,SEP15 EXON Missense_S38L,Missense_S38L exm72711 1 87369131 [A/C] NM_203341,NM_004261 SEP15,SEP15 EXON Missense_V29L,Missense_V29L exm72726 1 87379712 [A/G] NM_203341,NM_004261 SEP15,SEP15 EXON Missense_A28V,Missense_A28V exm2253550 1 87379738 [T/C] NM_203341,NM_004261 SEP15,SEP15 EXON Synonymous_R19R,Synonymous_R19R exm72739 1 87380813 [A/C] NM_012262,NM_001134492 HS2ST1,HS2ST1 EXON Missense_Q32K,Missense_Q32K exm72743 1 87538625 [A/G] NM_012262,NM_001134492 HS2ST1,HS2ST1 EXON Missense_I45V,Missense_I45V exm72761 1 87558242 [A/G] NM_012262,NM_001134492 HS2ST1,HS2ST1 EXON Missense_I160V,Missense_I160V exm72769 1 87569237 [A/G] NM_012262 HS2ST1 EXON Missense_R270Q exm72775 1 87570209 [A/G] NM_012262 HS2ST1 EXON Missense_I301V exm72780 1 87570306 [A/G] NM_012262 HS2ST1 EXON Missense_R333Q exm72783 1 87570335 [T/G] NM_012262 HS2ST1 EXON Missense_A343S exm-rs7553864 1 87613358 [T/C] NR_026989 LOC339524 Silent exm2268720 1 87728007 [T/C] exm2260817 1 87803200 [T/C] NM_006769 LMO4 Silent exm72819 1 87805743 [T/C] NM_006769 LMO4 EXON Missense_S116F exm2253574 1 88035857 [A/G] exm-rs10873862 1 88112646 [T/G] exm-rs983332 1 88132380 [T/G] exm2253578 1 88745673 [A/G] exm-rs2179965 1 88802012 [A/G] exm-rs6699417 1 89123443 [T/C] exm72832 1 89206740 [A/G] NM_006256 PKN2 EXON Missense_M40V exm72833 1 89206774 [A/G] NM_006256 PKN2 EXON Missense_R51Q exm2233923 1 89236120 [A/C] NM_006256 PKN2 EXON Missense_A197E exm72859 1 89271181 [T/C] NM_006256 PKN2 EXON Synonymous_G501G exm72871 1 89271574 [T/C] NM_006256 PKN2 EXON Synonymous_S559S exm72881 1 89273241 [A/G] NM_006256 PKN2 EXON Missense_Q655R exm72907 1 89299123 [T/C] NM_006256 PKN2 EXON Missense_W983R exm72917 1 89322997 [A/G] NM_001514 GTF2B EXON Missense_R237C exm2233931 1 89325904 [C/G] NM_001514 GTF2B EXON Missense_S108R exm72932 1 89352980 [T/C] NM_001514 GTF2B EXON Missense_G30S exm2263828 1 89388944 [A/C] exm72941 1 89408756 [T/C] NM_001008661,NM_001008662 CCBL2,CCBL2 EXON Missense_V412I,Missense_V378I exm72945 1 89409105 [A/G] NM_001008661,NM_001008662 CCBL2,CCBL2 EXON Synonymous_D381D,Synonymous_D347D exm72947 1 89414776 [A/T] NM_001008661,NM_001008662 CCBL2,CCBL2 EXON Missense_L380Q,Missense_L346Q exm72951 1 89414924 [A/G] NM_001008661,NM_001008662 CCBL2,CCBL2 EXON Missense_R331C,Missense_R297C exm72952 1 89414937 [A/C] NM_001008661,NM_001008662 CCBL2,CCBL2 EXON Missense_W326C,Missense_W292C exm72956 1 89418744 [A/C] NM_001008661,NM_001008662 CCBL2,CCBL2 Silent,Silent exm2273659 1 89420851 [A/G] NM_001008661,NM_001008662 CCBL2,CCBL2 EXON Missense_F282S,Missense_F248S exm72963 1 89420907 [A/G] NM_001008661,NM_001008662 CCBL2,CCBL2 EXON Synonymous_A263A,Synonymous_A229A exm1918330 1 89426919 [T/C] NM_001008661,NM_001008662 CCBL2,CCBL2 EXON Missense_D240N,Missense_D206N exm72965 1 89426928 [T/C] NM_001008661,NM_001008662 CCBL2,CCBL2 EXON Missense_I237V,Missense_I203V exm72970 1 89427086 [A/G] NM_001008661,NM_001008662 CCBL2,CCBL2 EXON Missense_T215I,Missense_T181I exm72972 1 89427095 [A/G] NM_001008661,NM_001008662 CCBL2,CCBL2 EXON Missense_I212T,Missense_I178T exm72981 1 89427821 [A/G] NM_001008661,NM_001008662 CCBL2,CCBL2 EXON Missense_L154P,Missense_L120P exm72996 1 89435119 [T/C] NM_001008661,NM_001008662 CCBL2,CCBL2 EXON Missense_R44Q,Missense_R10Q exm2233937 1 89448812 [T/G] NM_001008661,NM_001008662,NM_019610,NM_001162536 CCBL2,CCBL2,RBMXL1,RBMXL1 EXON Silent,Silent,Missense_D233A,Missense_D233A exm73045 1 89449218 [A/G] NM_001008661,NM_001008662,NM_019610,NM_001162536 CCBL2,CCBL2,RBMXL1,RBMXL1 EXON Silent,Silent,Missense_P98S,Missense_P98S exm73069 1 89453956 [G/C] NM_001008661,NM_001008662,NM_019610,NM_001162536 CCBL2,CCBL2,RBMXL1,RBMXL1 EXON Missense_I26M,Silent,Silent,Silent exm2268910 1 89467787 [T/C] exm73079 1 89473453 [A/G] NM_018284 GBP3 EXON Missense_L581P exm73084 1 89473522 [A/G] NM_018284 GBP3 EXON Missense_V558A exm73085 1 89473532 [G/C] NM_018284 GBP3 EXON Missense_Q555E exm73092 1 89474818 [A/G] NM_018284 GBP3 EXON Missense_C491R exm73093 1 89475080 [A/G] NM_018284 GBP3 EXON Missense_I487T exm73128 1 89478867 [T/C] NM_018284 GBP3 Silent exm73129 1 89478868 [A/G] NM_018284 GBP3 EXON Missense_R290C exm73139 1 89479027 [T/C] NM_018284 GBP3 EXON Missense_D237N exm73142 1 89479063 [A/G] NM_018284 GBP3 EXON Missense_R225W exm73143 1 89479074 [T/C] NM_018284 GBP3 EXON Missense_R221Q exm73145 1 89479102 [A/G] NM_018284 GBP3 EXON Nonsense_Q212X exm73149 1 89479798 [T/C] NM_018284 GBP3 EXON Missense_E198G exm73168 1 89481013 [G/C] NM_018284 GBP3 EXON Missense_T92S exm73175 1 89486263 [A/G] NM_018284 GBP3 EXON Missense_R48C exm73181 1 89486344 [T/G] NM_018284 GBP3 EXON Missense_L21M exm73183 1 89486376 [A/G] NM_018284 GBP3 EXON Missense_P10L exm73186 1 89519060 [T/C] NM_002053 GBP1 EXON Missense_R586Q exm73187 1 89519063 [T/C] NM_002053 GBP1 EXON Missense_R585Q exm73190 1 89519075 [A/G] NM_002053 GBP1 EXON Missense_T581M exm73198 1 89520405 [A/G] NM_002053 GBP1 EXON Missense_L542S exm73234 1 89522536 [C/G] NM_002053 GBP1 Silent exm73235 1 89522537 [T/C] NM_002053 GBP1 EXON Synonymous_A385A exm73235-other 1 89522537 [T/C] NM_002053 GBP1 EXON Synonymous_A385A exm73239 1 89522619 [G/C] NM_002053 GBP1 EXON Missense_R358T exm73247 1 89522791 [T/C] NM_002053 GBP1 EXON Missense_V301I exm73249 1 89523674 [T/C] NM_002053 GBP1 Silent exm73258 1 89523802 [G/C] NM_002053 GBP1 EXON Missense_Q249H exm73263 1 89523911 [T/C] NM_002053 GBP1 EXON Missense_S213N exm73267 1 89524577 [C/G] NM_002053 GBP1 EXON Missense_G193A exm73271 1 89524657 [G/C] NM_002053 GBP1 EXON Missense_E166D exm73300 1 89525989 [A/G] NM_002053 GBP1 EXON Missense_T70M exm73316 1 89528914 [A/C] NM_002053 GBP1 EXON Missense_A2S exm73322 1 89573902 [T/G] NM_004120 GBP2 EXON Missense_Q578K exm73323 1 89573903 [G/C] NM_004120 GBP2 EXON Missense_I577M exm73328 1 89573947 [A/T] NM_004120 GBP2 EXON Missense_F563I exm73329 1 89573949 [T/C] NM_004120 GBP2 EXON Missense_G562E exm73333 1 89575374 [T/C] NM_004120 GBP2 EXON Missense_A549T exm73338 1 89575413 [A/C] NM_004120 GBP2 EXON Missense_D536Y exm73342 1 89575547 [T/C] NM_004120 GBP2 EXON Missense_R491H exm73343 1 89575548 [A/G] NM_004120 GBP2 EXON Missense_R491C exm73360 1 89579953 [T/C] NM_004120 GBP2 EXON Missense_V299I exm73363 1 89582675 [A/G] NM_004120 GBP2 EXON Missense_R290C exm73365 1 89582690 [G/C] NM_004120 GBP2 EXON Missense_P285A exm73366 1 89582702 [A/G] NM_004120 GBP2 EXON Missense_S281P exm73368 1 89582810 [C/G] NM_004120 GBP2 EXON Missense_L245V exm73375 1 89582914 [A/G] NM_004120 GBP2 EXON Missense_T210I exm73381 1 89583433 [T/C] NM_004120 GBP2 EXON Missense_R151Q exm73385 1 89585878 [T/C] NM_004120 GBP2 EXON Missense_A138T exm73401 1 89587610 [T/C] NM_004120 GBP2 EXON Missense_I14V exm73409 1 89597881 [G/C] NM_207398 GBP7 EXON Missense_S623T exm73411 1 89597921 [T/C] NM_207398 GBP7 EXON Missense_G610R exm73415 1 89598019 [T/C] NM_207398 GBP7 EXON Missense_R577Q exm73417 1 89598040 [A/G] NM_207398 GBP7 EXON Missense_S570L exm73419 1 89598073 [A/G] NM_207398 GBP7 EXON Missense_L559P exm73430 1 89599084 [C/G] NM_207398 GBP7 EXON Missense_Q507E exm1918532 1 89613326 [A/C] NM_207398 GBP7 EXON Missense_G430V exm73454 1 89616013 [A/G] NM_207398 GBP7 EXON Missense_R291W exm1918541 1 89616127 [A/G] NM_207398 GBP7 EXON Nonsense_R253X exm73458 1 89616171 [T/C] NM_207398 GBP7 EXON Missense_R238Q exm1918542 1 89616189 [T/C] NM_207398 GBP7 EXON Missense_K232R exm73461 1 89616192 [T/C] NM_207398 GBP7 EXON Missense_Q231R exm73471 1 89618035 [A/G] NM_207398 GBP7 EXON Nonsense_R181X exm73489 1 89630543 [T/C] NM_207398 GBP7 Silent exm73490 1 89637454 [T/C] NM_207398 GBP7 EXON Missense_M55I exm73497 1 89637504 [C/G] NM_207398 GBP7 EXON Missense_V39L exm73503 1 89637603 [A/G] NM_207398 GBP7 EXON Missense_H6Y exm73506 1 89650945 [A/G] NM_052941 GBP4 EXON Missense_R639C exm73514 1 89652071 [T/C] NM_052941 GBP4 EXON Missense_E551G exm73516 1 89652078 [A/T] NM_052941 GBP4 EXON Missense_L549M exm73518 1 89652087 [T/C] NM_052941 GBP4 EXON Missense_E546K exm73528 1 89652204 [A/G] NM_052941 GBP4 EXON Missense_R507W exm73529 1 89652208 [T/C] NM_052941 GBP4 EXON Synonymous_A505A exm73531 1 89652700 [C/G] NM_052941 GBP4 EXON Missense_G499A exm73534 1 89654300 [A/G] NM_052941 GBP4 EXON Missense_W459R exm73538 1 89654395 [T/C] NM_052941 GBP4 EXON Missense_R427Q exm73541 1 89655720 [T/C] NM_052941 GBP4 Silent exm73567 1 89657124 [A/G] NM_052941 GBP4 EXON Missense_R246W exm73568 1 89657129 [T/C] NM_052941 GBP4 EXON Missense_R244Q exm2233944 1 89659086 [T/C] NM_052941 GBP4 EXON Missense_K125E exm73585 1 89660988 [A/C] NM_052941 GBP4 EXON Missense_V119L exm2233945 1 89661089 [A/G] NM_052941 GBP4 EXON Missense_T85M exm73592 1 89662813 [T/C] NM_052941 GBP4 EXON Missense_R72H exm1918579 1 89662871 [T/C] NM_052941 GBP4 EXON Missense_V53M exm73597 1 89662928 [T/C] NM_052941 GBP4 EXON Missense_E34K exm73599 1 89662987 [A/C] NM_052941 GBP4 EXON Missense_G14V exm73602 1 89726398 [T/C] NM_052942,NM_001134486 GBP5,GBP5 EXON Missense_V584I,Missense_V584I exm2253588 1 89726438 [A/G] NM_052942,NM_001134486 GBP5,GBP5 EXON Synonymous_L570L,Synonymous_L570L exm73612 1 89728008 [T/C] NM_052942,NM_001134486 GBP5,GBP5 EXON Missense_M514I,Missense_M514I exm73620 1 89728437 [A/G] NM_052942,NM_001134486 GBP5,GBP5 EXON Missense_S465F,Missense_S465F exm73627 1 89729439 [T/C] NM_052942,NM_001134486 GBP5,GBP5 EXON Missense_E448K,Missense_E448K exm73630 1 89729478 [T/C] NM_052942,NM_001134486 GBP5,GBP5 EXON Missense_I435V,Missense_I435V exm73632 1 89729504 [T/G] NM_052942,NM_001134486 GBP5,GBP5 EXON Missense_S426Y,Missense_S426Y exm73634 1 89729564 [A/G] NM_052942,NM_001134486 GBP5,GBP5 EXON Missense_S406L,Missense_S406L exm2233947 1 89730384 [T/G] NM_052942,NM_001134486 GBP5,GBP5 EXON Missense_F378L,Missense_F378L exm73651 1 89730555 [C/G] NM_052942,NM_001134486 GBP5,GBP5 EXON Missense_E321D,Missense_E321D exm73652 1 89730556 [A/T] NM_052942,NM_001134486 GBP5,GBP5 EXON Missense_E321V,Missense_E321V exm73653 1 89730557 [C/G] NM_052942,NM_001134486 GBP5,GBP5 EXON Missense_E321Q,Missense_E321Q exm73667 1 89732071 [T/C] NM_052942,NM_001134486 GBP5,GBP5 EXON Missense_M276V,Missense_M276V exm73672 1 89732110 [A/G] NM_052942,NM_001134486 GBP5,GBP5 EXON Nonsense_Q263X,Nonsense_Q263X exm73673 1 89732194 [T/C] NM_052942,NM_001134486 GBP5,GBP5 EXON Missense_I235V,Missense_I235V exm73683 1 89732754 [T/G] NM_052942,NM_001134486 GBP5,GBP5 EXON Missense_S171R,Missense_S171R exm73689 1 89733172 [A/G] NM_052942,NM_001134486 GBP5,GBP5 EXON Missense_A119V,Missense_A119V exm73692 1 89734412 [T/C] NM_052942,NM_001134486 GBP5,GBP5 EXON Synonymous_K106K,Synonymous_K106K exm73695 1 89734459 [T/G] NM_052942,NM_001134486 GBP5,GBP5 EXON Missense_H91N,Missense_H91N exm1918617 1 89734522 [T/C] NM_052942,NM_001134486 GBP5,GBP5 EXON Missense_T70A,Missense_T70A exm73698 1 89734539 [A/C] NM_052942,NM_001134486 GBP5,GBP5 EXON Missense_G64V,Missense_G64V exm73699 1 89735081 [T/A] NM_052942,NM_001134486 GBP5,GBP5 EXON Missense_Y53F,Missense_Y53F exm73700 1 89735085 [A/G] NM_052942,NM_001134486 GBP5,GBP5 EXON Missense_S52P,Missense_S52P exm73703 1 89735096 [T/C] NM_052942,NM_001134486 GBP5,GBP5 EXON Missense_R48H,Missense_R48H exm73706 1 89735135 [A/G] NM_052942,NM_001134486 GBP5,GBP5 EXON Missense_T35M,Missense_T35M exm2264870 1 89803882 [A/G] exm73715 1 89834182 [A/C] NM_198460 GBP6 EXON Missense_N24K exm1918654 1 89834223 [T/C] NM_198460 GBP6 EXON Missense_V38A exm73716 1 89834252 [T/C] NM_198460 GBP6 EXON Missense_R48C exm73719 1 89835123 [T/C] NM_198460 GBP6 EXON Missense_T70M exm73724 1 89835219 [A/G] NM_198460 GBP6 EXON Missense_G102D exm1918660 1 89843663 [T/G] NM_198460 GBP6 EXON Missense_G107V exm73732 1 89844035 [T/C] NM_198460 GBP6 EXON Missense_V163A exm73733 1 89844062 [T/G] NM_198460 GBP6 EXON Missense_F172C exm73734 1 89844088 [T/C] NM_198460 GBP6 EXON Missense_R181W exm1918661 1 89844089 [A/G] NM_198460 GBP6 EXON Missense_R181Q exm73736 1 89844154 [A/G] NM_198460 GBP6 EXON Missense_A203T exm73750 1 89846152 [T/C] NM_198460 GBP6 EXON Missense_T278I exm73754 1 89847286 [T/C] NM_198460 GBP6 EXON Missense_A302V exm73755 1 89847372 [T/G] NM_198460 GBP6 EXON Missense_A331S exm73756 1 89847411 [T/C] NM_198460 GBP6 EXON Missense_L344F exm2253591 1 89847425 [A/G] NM_198460 GBP6 EXON Synonymous_T348T exm73766 1 89847531 [A/G] NM_198460 GBP6 EXON Missense_M384V exm1918678 1 89848293 [A/C] NM_198460 GBP6 EXON Missense_A408D exm73771 1 89848352 [T/G] NM_198460 GBP6 EXON Missense_V428F exm73773 1 89848373 [T/C] NM_198460 GBP6 EXON Missense_Y435H exm73775 1 89848388 [A/G] NM_198460 GBP6 EXON Missense_E440K exm73781 1 89849256 [A/G] NM_198460 GBP6 EXON Missense_E471K exm73787 1 89849657 [T/C] NM_198460 GBP6 EXON Missense_R492W exm73791 1 89849751 [A/G] NM_198460 GBP6 EXON Missense_R523H exm73795 1 89850843 [A/G] NM_198460 GBP6 EXON Missense_A573T exm1918684 1 89850867 [A/G] NM_198460 GBP6 EXON Missense_M581V exm1918688 1 89850972 [C/G] NM_198460 GBP6 EXON Missense_G616R exm73818 1 90048531 [A/G] NM_001134476,NM_015350 LRRC8B,LRRC8B EXON Missense_V108I,Missense_V108I exm73821 1 90048615 [A/G] NM_001134476,NM_015350 LRRC8B,LRRC8B EXON Missense_S136G,Missense_S136G exm73834 1 90049071 [A/G] NM_001134476,NM_015350 LRRC8B,LRRC8B EXON Missense_D288N,Missense_D288N exm73836 1 90049111 [A/G] NM_001134476,NM_015350 LRRC8B,LRRC8B EXON Missense_R301H,Missense_R301H exm73843 1 90049462 [A/C] NM_001134476,NM_015350 LRRC8B,LRRC8B EXON Missense_A418D,Missense_A418D exm73851 1 90049615 [A/G] NM_001134476,NM_015350 LRRC8B,LRRC8B EXON Missense_R469H,Missense_R469H exm73855 1 90049720 [A/G] NM_001134476,NM_015350 LRRC8B,LRRC8B EXON Missense_R504H,Missense_R504H exm1918810 1 90178335 [T/C] NM_032270 LRRC8C EXON Missense_S69L exm73898 1 90178362 [T/C] NM_032270 LRRC8C EXON Missense_T78I exm73917 1 90179041 [A/C] NM_032270 LRRC8C EXON Missense_K304N exm73932 1 90179420 [A/G] NM_032270 LRRC8C EXON Missense_I431V exm73934 1 90179456 [A/G] NM_032270 LRRC8C EXON Missense_I443V exm73937 1 90179529 [T/A] NM_032270 LRRC8C EXON Missense_D467V exm73938 1 90179532 [A/G] NM_032270 LRRC8C EXON Missense_N468S exm1918818 1 90179652 [A/C] NM_032270 LRRC8C EXON Missense_P508H exm73948 1 90179703 [T/G] NM_032270 LRRC8C EXON Missense_L525R exm73953 1 90179843 [A/G] NM_032270 LRRC8C EXON Missense_I572V exm73960 1 90180119 [T/C] NM_032270 LRRC8C EXON Missense_R664C exm73961 1 90180132 [A/G] NM_032270 LRRC8C EXON Missense_S668N exm73968 1 90180452 [T/C] NM_032270 LRRC8C EXON Missense_R775W exm1918821 1 90180453 [A/G] NM_032270 LRRC8C EXON Missense_R775Q exm73970 1 90180529 [A/G] NM_032270 LRRC8C EXON Missense_M800I exm2268721 1 90278842 [T/C] exm73989 1 90398839 [A/G] NM_001134479,NM_018103 LRRC8D,LRRC8D EXON Missense_G71E,Missense_G71E exm73991 1 90398847 [A/G] NM_001134479,NM_018103 LRRC8D,LRRC8D EXON Missense_E74K,Missense_E74K exm73992 1 90398850 [A/G] NM_001134479,NM_018103 LRRC8D,LRRC8D EXON Missense_V75I,Missense_V75I exm74019 1 90400069 [A/G] NM_001134479,NM_018103 LRRC8D,LRRC8D EXON Missense_G481E,Missense_G481E exm74042 1 90400944 [A/C] NM_001134479,NM_018103 LRRC8D,LRRC8D EXON Missense_K773Q,Missense_K773Q exm74046 1 90401062 [A/G] NM_001134479,NM_018103 LRRC8D,LRRC8D EXON Missense_R812H,Missense_R812H exm74066 1 90470722 [A/G] NM_182976,NM_182975 ZNF326,ZNF326 EXON Missense_Y43C,Missense_Y43C exm74090 1 90475762 [A/C] NM_182976 ZNF326 EXON Missense_P244Q exm74104 1 90482944 [A/G] NM_182976 ZNF326 EXON Missense_E332G exm74109 1 90484321 [A/G] NM_182976 ZNF326 EXON Missense_I384M exm74120 1 90493067 [A/G] NM_182976 ZNF326 EXON Missense_E519G exm74122 1 90493072 [T/G] NM_182976 ZNF326 EXON Missense_V521L exm2260822 1 90537317 [A/G] exm2268722 1 90741571 [T/G] exm-rs2136093 1 90875888 [T/C] exm-rs2390582 1 90943907 [A/G] exm2260824 1 90992380 [T/C] exm74135 1 91178036 [C/G] NM_020063 BARHL2 EXON Missense_A333P exm74149 1 91182188 [T/C] NM_020063 BARHL2 EXON Missense_E189K exm74151 1 91182214 [T/C] NM_020063 BARHL2 EXON Missense_E180G exm74162 1 91182472 [T/G] NM_020063 BARHL2 EXON Missense_P94Q exm74169 1 91182591 [A/C] NM_020063 BARHL2 EXON Missense_E54D exm74170 1 91182628 [T/C] NM_020063 BARHL2 EXON Missense_D42G exm2268723 1 91279915 [T/C] exm74179 1 91382455 [T/C] NM_032186,NM_201269,NM_016620 ZNF644,ZNF644,ZNF644 EXON Missense_R73Q,Missense_R1295Q,Missense_R73Q exm74182 1 91382477 [T/C] NM_032186,NM_201269,NM_016620 ZNF644,ZNF644,ZNF644 EXON Missense_I66V,Missense_I1288V,Missense_I66V exm74194 1 91403290 [A/G] NM_032186,NM_201269,NM_016620 ZNF644,ZNF644,ZNF644 EXON Silent,Missense_L1147P,Silent exm74203 1 91403431 [T/C] NM_032186,NM_201269,NM_016620 ZNF644,ZNF644,ZNF644 EXON Silent,Missense_R1100H,Silent exm74204 1 91403440 [T/C] NM_032186,NM_201269,NM_016620 ZNF644,ZNF644,ZNF644 EXON Silent,Missense_N1097S,Silent exm2233966 1 91403464 [T/C] NM_032186,NM_201269,NM_016620 ZNF644,ZNF644,ZNF644 EXON Silent,Missense_Y1089C,Silent exm74208 1 91403530 [A/G] NM_032186,NM_201269,NM_016620 ZNF644,ZNF644,ZNF644 EXON Silent,Missense_T1067M,Silent exm74217 1 91404256 [A/C] NM_032186,NM_201269,NM_016620 ZNF644,ZNF644,ZNF644 EXON Silent,Missense_E885D,Silent exm74218 1 91404303 [T/C] NM_032186,NM_201269,NM_016620 ZNF644,ZNF644,ZNF644 EXON Silent,Missense_T870A,Silent exm74219 1 91404308 [T/C] NM_032186,NM_201269,NM_016620 ZNF644,ZNF644,ZNF644 EXON Silent,Missense_D868G,Silent exm74226 1 91404530 [A/G] NM_032186,NM_201269,NM_016620 ZNF644,ZNF644,ZNF644 EXON Silent,Missense_A794V,Silent exm74229 1 91404576 [T/C] NM_032186,NM_201269,NM_016620 ZNF644,ZNF644,ZNF644 EXON Silent,Missense_S779G,Silent exm74230 1 91404617 [T/G] NM_032186,NM_201269,NM_016620 ZNF644,ZNF644,ZNF644 EXON Silent,Missense_E765A,Silent exm74231 1 91404671 [T/C] NM_032186,NM_201269,NM_016620 ZNF644,ZNF644,ZNF644 EXON Silent,Missense_Y747C,Silent exm74232 1 91404692 [T/C] NM_032186,NM_201269,NM_016620 ZNF644,ZNF644,ZNF644 EXON Silent,Missense_Y740C,Silent exm74234 1 91404710 [T/G] NM_032186,NM_201269,NM_016620 ZNF644,ZNF644,ZNF644 EXON Silent,Missense_A734E,Silent exm74238 1 91404768 [T/C] NM_032186,NM_201269,NM_016620 ZNF644,ZNF644,ZNF644 EXON Silent,Missense_V715I,Silent exm74241 1 91404792 [T/C] NM_032186,NM_201269,NM_016620 ZNF644,ZNF644,ZNF644 EXON Silent,Missense_K707E,Silent exm74244 1 91404863 [C/G] NM_032186,NM_201269,NM_016620 ZNF644,ZNF644,ZNF644 EXON Silent,Missense_R683T,Silent exm74255 1 91405215 [T/A] NM_032186,NM_201269,NM_016620 ZNF644,ZNF644,ZNF644 EXON Silent,Missense_T566S,Silent exm74256 1 91405217 [T/C] NM_032186,NM_201269,NM_016620 ZNF644,ZNF644,ZNF644 EXON Silent,Missense_K565R,Silent exm74257 1 91405245 [T/C] NM_032186,NM_201269,NM_016620 ZNF644,ZNF644,ZNF644 EXON Silent,Missense_M556V,Silent exm74279 1 91405961 [T/C] NM_032186,NM_201269,NM_016620 ZNF644,ZNF644,ZNF644 EXON Silent,Missense_K317R,Silent exm74281 1 91405998 [T/C] NM_032186,NM_201269,NM_016620 ZNF644,ZNF644,ZNF644 EXON Silent,Missense_E305K,Silent exm74283 1 91406006 [T/C] NM_032186,NM_201269,NM_016620 ZNF644,ZNF644,ZNF644 EXON Silent,Missense_R302H,Silent exm74292 1 91406186 [A/G] NM_032186,NM_201269,NM_016620 ZNF644,ZNF644,ZNF644 EXON Silent,Missense_T242M,Silent exm74294 1 91406247 [T/C] NM_032186,NM_201269,NM_016620 ZNF644,ZNF644,ZNF644 EXON Silent,Missense_V222I,Silent exm74300 1 91406444 [T/A] NM_032186,NM_201269,NM_016620 ZNF644,ZNF644,ZNF644 EXON Silent,Missense_K156M,Silent exm2233968 1 91406643 [T/C] NM_032186,NM_201269,NM_016620 ZNF644,ZNF644,ZNF644 EXON Silent,Missense_G90S,Silent exm74309 1 91406775 [T/C] NM_032186,NM_201269,NM_016620 ZNF644,ZNF644,ZNF644 EXON Silent,Missense_N46D,Silent exm74313 1 91406859 [T/C] NM_032186,NM_201269,NM_016620 ZNF644,ZNF644,ZNF644 EXON Silent,Missense_V18M,Silent exm-rs164898 1 91569689 [A/G] exm74362 1 91739270 [T/C] NM_001017975 HFM1 EXON Synonymous_K1257K exm74373 1 91742205 [A/G] NM_001017975 HFM1 EXON Missense_P1190S exm74375 1 91742541 [T/C] NM_001017975 HFM1 EXON Missense_C1157Y exm74376 1 91742558 [T/A] NM_001017975 HFM1 EXON Missense_H1151Q exm74380 1 91778984 [T/G] NM_001017975 HFM1 EXON Missense_T1105P exm74414 1 91782031 [T/C] NM_001017975 HFM1 EXON Missense_I939V exm74419 1 91784916 [T/C] NM_001017975 HFM1 EXON Missense_I872V exm74421 1 91788735 [T/C] NM_001017975 HFM1 EXON Missense_K817E exm74425 1 91790279 [C/G] NM_001017975 HFM1 EXON Missense_V794L exm74426 1 91790302 [T/C] NM_001017975 HFM1 EXON Nonsense_W786X exm74427 1 91809014 [T/C] NM_001017975 HFM1 EXON Missense_D770N exm74432 1 91816343 [A/G] NM_001017975 HFM1 EXON Nonsense_R720X exm74445 1 91840949 [A/C] NM_001017975 HFM1 EXON Missense_A551S exm74450 1 91841203 [T/G] NM_001017975 HFM1 EXON Missense_K493Q exm74455 1 91843626 [T/C] NM_001017975 HFM1 EXON Missense_M451V exm74459 1 91843683 [T/C] NM_001017975 HFM1 EXON Missense_M432V exm74474 1 91845754 [T/C] NM_001017975 HFM1 EXON Missense_T305A exm1927669 1 91845778 [T/A] NM_001017975 HFM1 EXON Missense_R297W exm74483 1 91850744 [A/G] NM_001017975 HFM1 EXON Missense_P268S exm74495 1 91851269 [T/C] NM_001017975 HFM1 EXON Missense_Y206C exm74496 1 91851282 [T/C] NM_001017975 HFM1 EXON Missense_K202E exm74505 1 91859795 [T/C] NM_001017975 HFM1 EXON Missense_I117V exm74506 1 91859801 [A/G] NM_001017975 HFM1 EXON Missense_S115P exm2233972 1 91859909 [T/C] NM_001017975 HFM1 EXON Missense_E79K exm74514 1 91861916 [A/G] NM_001017975 HFM1 EXON Missense_P40S exm74521 1 91866635 [A/G] NM_001017975 HFM1 EXON Missense_L2P exm2268912 1 91885970 [T/C] exm2253714 1 91916880 [A/G] exm74528 1 91967385 [A/G] NM_003503,NM_001134419,NM_001134420 CDC7,CDC7,CDC7 EXON Missense_A38T,Missense_A38T,Missense_A38T exm74529 1 91967386 [A/C] NM_003503,NM_001134419,NM_001134420 CDC7,CDC7,CDC7 EXON Missense_A38E,Missense_A38E,Missense_A38E exm74548 1 91977394 [G/C] NM_003503,NM_001134419,NM_001134420 CDC7,CDC7,CDC7 EXON Missense_F162L,Missense_F162L,Missense_F162L exm74554 1 91978666 [A/G] NM_003503,NM_001134419,NM_001134420 CDC7,CDC7,CDC7 EXON Missense_I208M,Missense_I208M,Missense_I208M exm74555 1 91978677 [A/C] NM_003503,NM_001134419,NM_001134420 CDC7,CDC7,CDC7 EXON Missense_K212T,Missense_K212T,Missense_K212T exm74556 1 91978730 [A/G] NM_003503,NM_001134419,NM_001134420 CDC7,CDC7,CDC7 EXON Missense_I230V,Missense_I230V,Missense_I230V exm74557 1 91978842 [T/C] NM_003503,NM_001134419,NM_001134420 CDC7,CDC7,CDC7 EXON Missense_I267T,Missense_I267T,Missense_I267T exm74561 1 91980455 [T/C] NM_003503,NM_001134419,NM_001134420 CDC7,CDC7,CDC7 EXON Missense_M333T,Missense_M333T,Missense_M333T exm74562 1 91980461 [A/G] NM_003503,NM_001134419,NM_001134420 CDC7,CDC7,CDC7 EXON Missense_S335N,Missense_S335N,Missense_S335N exm2233973 1 91985828 [A/G] NM_003503,NM_001134419,NM_001134420 CDC7,CDC7,CDC7 EXON Missense_K441R,Missense_K441R,Missense_K441R exm74573 1 91989979 [A/G] NM_003503,NM_001134419,NM_001134420 CDC7,CDC7,CDC7 EXON Missense_D571G,Missense_D571G,Missense_D571G exm-rs1192415 1 92077097 [A/G] exm74575 1 92149303 [A/G] NM_003243,NM_001195683,NM_001195684,NR_036634 TGFBR3,TGFBR3,TGFBR3,TGFBR3 EXON Missense_T850M,Missense_T849M,Missense_T849M,Silent exm74586 1 92161298 [A/T] NM_003243,NM_001195683,NM_001195684,NR_036634 TGFBR3,TGFBR3,TGFBR3,TGFBR3 EXON Missense_I790F,Missense_I789F,Missense_I789F,Silent exm1929694 1 92161307 [T/C] NM_003243,NM_001195683,NM_001195684,NR_036634 TGFBR3,TGFBR3,TGFBR3,TGFBR3 EXON Missense_V787M,Missense_V786M,Missense_V786M,Silent exm74594 1 92163646 [A/G] NM_003243,NM_001195683,NM_001195684,NR_036634 TGFBR3,TGFBR3,TGFBR3,TGFBR3 EXON Missense_P777S,Missense_P776S,Missense_P776S,Silent exm74597 1 92163682 [G/C] NM_003243,NM_001195683,NM_001195684,NR_036634 TGFBR3,TGFBR3,TGFBR3,TGFBR3 EXON Missense_G765R,Missense_G764R,Missense_G764R,Silent exm74624 1 92182222 [A/G] NM_003243,NM_001195683,NM_001195684,NR_036634 TGFBR3,TGFBR3,TGFBR3,TGFBR3 EXON Missense_P537L,Missense_P536L,Missense_P536L,Silent exm74625 1 92182233 [A/C] NM_003243,NM_001195683,NM_001195684,NR_036634 TGFBR3,TGFBR3,TGFBR3,TGFBR3 EXON Missense_S533R,Missense_S532R,Missense_S532R,Silent exm74626 1 92184869 [A/G] NM_003243,NM_001195683,NM_001195684,NR_036634 TGFBR3,TGFBR3,TGFBR3,TGFBR3 EXON Synonymous_S522S,Synonymous_S521S,Synonymous_S521S,Silent exm1929767 1 92184927 [T/C] NM_003243,NM_001195683,NM_001195684,NR_036634 TGFBR3,TGFBR3,TGFBR3,TGFBR3 EXON Missense_N503S,Missense_N502S,Missense_N502S,Silent exm74629 1 92184966 [T/C] NM_003243,NM_001195683,NM_001195684,NR_036634 TGFBR3,TGFBR3,TGFBR3,TGFBR3 EXON Missense_K490R,Missense_K489R,Missense_K489R,Silent exm74650 1 92187652 [A/G] NM_003243,NM_001195683,NM_001195684,NR_036634 TGFBR3,TGFBR3,TGFBR3,TGFBR3 EXON Missense_M312T,Missense_M312T,Missense_M312T,Silent exm74651 1 92187701 [A/C] NM_003243,NM_001195683,NM_001195684,NR_036634 TGFBR3,TGFBR3,TGFBR3,TGFBR3 EXON Missense_A296S,Missense_A296S,Missense_A296S,Silent exm74662 1 92195428 [A/G] NM_003243,NM_001195683,NM_001195684,NR_036634 TGFBR3,TGFBR3,TGFBR3,TGFBR3 EXON Missense_S224F,Missense_S224F,Missense_S224F,Silent exm2233977 1 92200389 [A/G] NM_003243,NM_001195683,NM_001195684,NR_036634 TGFBR3,TGFBR3,TGFBR3,TGFBR3 EXON Missense_V171A,Missense_V171A,Missense_V171A,Silent exm74670 1 92200413 [A/C] NM_003243,NM_001195683,NM_001195684,NR_036634 TGFBR3,TGFBR3,TGFBR3,TGFBR3 EXON Missense_W163L,Missense_W163L,Missense_W163L,Silent exm-rs17131547 1 92211020 [A/G] NM_003243,NM_001195683,NM_001195684,NR_036634 TGFBR3,TGFBR3,TGFBR3,TGFBR3 Silent,Silent,Silent,Silent exm2264872 1 92241776 [A/G] NM_003243,NM_001195683,NM_001195684,NR_036634 TGFBR3,TGFBR3,TGFBR3,TGFBR3 Silent,Silent,Silent,Silent exm74687 1 92263005 [C/G] NM_003243,NM_001195683,NM_001195684,NR_036634 TGFBR3,TGFBR3,TGFBR3,TGFBR3 EXON Missense_E29Q,Missense_E29Q,Missense_E29Q,Silent exm74690 1 92327034 [T/C] NM_003243,NM_001195683,NM_001195684,NR_036634 TGFBR3,TGFBR3,TGFBR3,TGFBR3 EXON Missense_T19A,Missense_T19A,Missense_T19A,Silent exm74691 1 92327045 [A/G] NM_003243,NM_001195683,NM_001195684,NR_036634 TGFBR3,TGFBR3,TGFBR3,TGFBR3 EXON Missense_S15F,Missense_S15F,Missense_S15F,Silent exm74692 1 92327048 [T/C] NM_003243,NM_001195683,NM_001195684,NR_036634 TGFBR3,TGFBR3,TGFBR3,TGFBR3 EXON Missense_S14N,Missense_S14N,Missense_S14N,Silent exm74704 1 92428495 [A/C] NM_001242806,NM_001242810,NM_001242805,NM_001242807,NM_001242808,NM_207189,NM_001726 BRDT,BRDT,BRDT,BRDT,BRDT,BRDT,BRDT EXON Missense_Q62K,Silent,Missense_Q62K,Missense_Q62K,Missense_Q62K,Missense_Q62K,Missense_Q62K exm74710 1 92430266 [T/C] NM_001242806,NM_001242810,NM_001242805,NM_001242807,NM_001242808,NM_207189,NM_001726 BRDT,BRDT,BRDT,BRDT,BRDT,BRDT,BRDT EXON Missense_S92L,Missense_S19L,Missense_S92L,Silent,Silent,Missense_S92L,Missense_S92L exm74714 1 92441876 [A/G] NM_001242806,NM_001242810,NM_001242805,NM_001242807,NM_001242808,NM_207189,NM_001726 BRDT,BRDT,BRDT,BRDT,BRDT,BRDT,BRDT EXON Missense_A171T,Missense_A94T,Missense_A167T,Missense_A121T,Missense_A121T,Missense_A167T,Missense_A167T exm74716 1 92441933 [A/G] NM_001242806,NM_001242810,NM_001242805,NM_001242807,NM_001242808,NM_207189,NM_001726 BRDT,BRDT,BRDT,BRDT,BRDT,BRDT,BRDT EXON Missense_I190V,Missense_I113V,Missense_I186V,Missense_I140V,Missense_I140V,Missense_I186V,Missense_I186V exm74725 1 92442695 [A/C] NM_001242806,NM_001242810,NM_001242805,NM_001242807,NM_001242808,NM_207189,NM_001726 BRDT,BRDT,BRDT,BRDT,BRDT,BRDT,BRDT EXON Missense_K242N,Missense_K165N,Missense_K238N,Missense_K192N,Missense_K192N,Missense_K238N,Missense_K238N exm74731 1 92442802 [A/G] NM_001242806,NM_001242810,NM_001242805,NM_001242807,NM_001242808,NM_207189,NM_001726 BRDT,BRDT,BRDT,BRDT,BRDT,BRDT,BRDT EXON Missense_R278K,Missense_R201K,Missense_R274K,Missense_R228K,Missense_R228K,Missense_R274K,Missense_R274K exm74736 1 92442902 [T/A] NM_001242806,NM_001242810,NM_001242805,NM_001242807,NM_001242808,NM_207189,NM_001726 BRDT,BRDT,BRDT,BRDT,BRDT,BRDT,BRDT EXON Missense_H311Q,Missense_H234Q,Missense_H307Q,Missense_H261Q,Missense_H261Q,Missense_H307Q,Missense_H307Q exm74740 1 92443803 [A/G] NM_001242806,NM_001242810,NM_001242805,NM_001242807,NM_001242808,NM_207189,NM_001726 BRDT,BRDT,BRDT,BRDT,BRDT,BRDT,BRDT EXON Missense_K354E,Missense_K277E,Missense_K350E,Missense_K304E,Missense_K304E,Missense_K350E,Missense_K350E exm74741 1 92443824 [A/G] NM_001242806,NM_001242810,NM_001242805,NM_001242807,NM_001242808,NM_207189,NM_001726 BRDT,BRDT,BRDT,BRDT,BRDT,BRDT,BRDT EXON Missense_E361K,Missense_E284K,Missense_E357K,Missense_E311K,Missense_E311K,Missense_E357K,Missense_E357K exm74745 1 92445179 [A/G] NM_001242806,NM_001242810,NM_001242805,NM_001242807,NM_001242808,NM_207189,NM_001726 BRDT,BRDT,BRDT,BRDT,BRDT,BRDT,BRDT EXON Missense_M388I,Missense_M311I,Missense_M384I,Missense_M338I,Missense_M338I,Missense_M384I,Missense_M384I exm74748 1 92445240 [A/G] NM_001242806,NM_001242810,NM_001242805,NM_001242807,NM_001242808,NM_207189,NM_001726 BRDT,BRDT,BRDT,BRDT,BRDT,BRDT,BRDT EXON Missense_A409T,Missense_A332T,Missense_A405T,Missense_A359T,Missense_A359T,Missense_A405T,Missense_A405T exm74749 1 92445257 [C/G] NM_001242806,NM_001242810,NM_001242805,NM_001242807,NM_001242808,NM_207189,NM_001726 BRDT,BRDT,BRDT,BRDT,BRDT,BRDT,BRDT EXON Missense_N414K,Missense_N337K,Missense_N410K,Missense_N364K,Missense_N364K,Missense_N410K,Missense_N410K exm74761 1 92446333 [T/C] NM_001242806,NM_001242810,NM_001242805,NM_001242807,NM_001242808,NM_207189,NM_001726 BRDT,BRDT,BRDT,BRDT,BRDT,BRDT,BRDT EXON Missense_M478T,Missense_M401T,Missense_M474T,Missense_M428T,Missense_M428T,Missense_M474T,Missense_M474T exm74773 1 92446887 [T/C] NM_001242806,NM_001242810,NM_001242805,NM_001242807,NM_001242808,NM_207189,NM_001726 BRDT,BRDT,BRDT,BRDT,BRDT,BRDT,BRDT EXON Missense_R609W,Missense_R532W,Missense_R605W,Missense_R559W,Missense_R559W,Missense_R605W,Missense_R605W exm74774 1 92446888 [A/G] NM_001242806,NM_001242810,NM_001242805,NM_001242807,NM_001242808,NM_207189,NM_001726 BRDT,BRDT,BRDT,BRDT,BRDT,BRDT,BRDT EXON Missense_R609Q,Missense_R532Q,Missense_R605Q,Missense_R559Q,Missense_R559Q,Missense_R605Q,Missense_R605Q exm74779 1 92447217 [A/G] NM_001242806,NM_001242810,NM_001242805,NM_001242807,NM_001242808,NM_207189,NM_001726 BRDT,BRDT,BRDT,BRDT,BRDT,BRDT,BRDT EXON Missense_R640Q,Missense_R563Q,Missense_R636Q,Missense_R590Q,Missense_R590Q,Missense_R636Q,Missense_R636Q exm1930629 1 92456792 [A/G] NM_001242806,NM_001242810,NM_001242805,NM_001242807,NM_001242808,NM_207189,NM_001726 BRDT,BRDT,BRDT,BRDT,BRDT,BRDT,BRDT EXON Missense_E689G,Missense_E612G,Missense_E685G,Missense_E639G,Missense_E639G,Missense_E685G,Missense_E685G exm74792 1 92457843 [T/C] NM_001242806,NM_001242810,NM_001242805,NM_001242807,NM_001242808,NM_207189,NM_001726 BRDT,BRDT,BRDT,BRDT,BRDT,BRDT,BRDT EXON Missense_P700L,Missense_P623L,Missense_P696L,Missense_P650L,Missense_P650L,Missense_P696L,Missense_P696L exm74809 1 92467626 [A/G] NM_001242806,NM_001242810,NM_001242805,NM_001242807,NM_001242808,NM_207189,NM_001726 BRDT,BRDT,BRDT,BRDT,BRDT,BRDT,BRDT EXON Missense_N774D,Missense_N697D,Missense_N770D,Missense_N724D,Missense_N724D,Missense_N770D,Missense_N770D exm74810 1 92467669 [T/C] NM_001242806,NM_001242810,NM_001242805,NM_001242807,NM_001242808,NM_207189,NM_001726 BRDT,BRDT,BRDT,BRDT,BRDT,BRDT,BRDT EXON Missense_T788M,Missense_T711M,Missense_T784M,Missense_T738M,Missense_T738M,Missense_T784M,Missense_T784M exm74818 1 92469990 [T/C] NM_001242806,NM_001242810,NM_001242805,NM_001242807,NM_001242808,NM_207189,NM_001726 BRDT,BRDT,BRDT,BRDT,BRDT,BRDT,BRDT EXON Missense_A807V,Missense_A730V,Missense_A803V,Missense_A757V,Missense_A757V,Missense_A803V,Missense_A803V exm74831 1 92470809 [T/C] NM_001242806,NM_001242810,NM_001242805,NM_001242807,NM_001242808,NM_207189,NM_001726 BRDT,BRDT,BRDT,BRDT,BRDT,BRDT,BRDT EXON Missense_R914C,Missense_R837C,Missense_R910C,Missense_R864C,Missense_R864C,Missense_R910C,Missense_R910C exm74839 1 92495782 [A/G] NM_173567 EPHX4 EXON Missense_Q49R exm74846 1 92498120 [T/C] NM_173567 EPHX4 EXON Missense_L97P exm74851 1 92508490 [A/C] NM_173567 EPHX4 EXON Missense_K143T exm74853 1 92508517 [A/G] NM_173567 EPHX4 EXON Missense_K152R exm74867 1 92546144 [A/G] NM_183242 BTBD8 EXON Missense_E6K exm74869 1 92546189 [T/C] NM_183242 BTBD8 EXON Missense_C21R exm74874 1 92554283 [A/G] NM_183242 BTBD8 EXON Missense_V60I exm74877 1 92554358 [T/C] NM_183242 BTBD8 EXON Missense_F85L exm74880 1 92568060 [A/C] NM_183242 BTBD8 EXON Missense_K126N exm74881 1 92568089 [A/G] NM_183242 BTBD8 EXON Missense_K136R exm74890 1 92604915 [A/G] NM_183242 BTBD8 EXON Missense_H254R exm74891 1 92604946 [A/G] NM_183242 BTBD8 EXON Missense_I264M exm74904 1 92633429 [A/G] NM_015237 KIAA1107 EXON Missense_D6N exm74906 1 92633442 [A/C] NM_015237 KIAA1107 EXON Missense_T10K exm74909 1 92642595 [A/G] NM_015237 KIAA1107 EXON Missense_I177M exm74916 1 92642962 [A/G] NM_015237 KIAA1107 EXON Missense_I300V exm74918 1 92643066 [A/G] NM_015237 KIAA1107 EXON Missense_M334I exm74928 1 92645953 [G/C] NM_015237 KIAA1107 EXON Missense_V467L exm74938 1 92646415 [C/G] NM_015237 KIAA1107 EXON Missense_H621D exm74939 1 92646431 [A/G] NM_015237 KIAA1107 EXON Missense_D626G exm74942 1 92646532 [T/A] NM_015237 KIAA1107 EXON Missense_N660Y exm74952 1 92647223 [A/G] NM_015237 KIAA1107 EXON Missense_N890S exm74953 1 92647250 [T/C] NM_015237 KIAA1107 EXON Missense_T899M exm74956 1 92647532 [A/C] NM_015237 KIAA1107 EXON Missense_T993N exm74960 1 92647636 [T/G] NM_015237 KIAA1107 EXON Missense_F1028V exm74965 1 92647861 [A/G] NM_015237 KIAA1107 EXON Missense_V1103I exm2273661 1 92649457 [A/G] NM_015237 KIAA1107 EXON Missense_R1212H exm74979 1 92696989 [A/T] NM_001012425 C1orf146 EXON Missense_S4R exm74989 1 92709801 [A/T] NM_001012425 C1orf146 EXON Missense_K63M exm74992 1 92709824 [G/C] NM_001012425 C1orf146 EXON Missense_E71Q exm75010 1 92712095 [T/C] NM_053274 GLMN EXON Missense_I593V exm75015 1 92712176 [A/C] NM_053274 GLMN EXON Missense_D566Y exm75023 1 92728424 [T/C] NM_053274 GLMN EXON Missense_N490S exm75035 1 92732031 [T/C] NM_053274 GLMN EXON Missense_M387V exm75040 1 92733511 [A/G] NM_053274 GLMN EXON Missense_Y353H exm75041 1 92733546 [T/C] NM_053274 GLMN EXON Missense_N341S exm75042 1 92733663 [A/G] NM_053274 GLMN EXON Missense_L336S exm75047 1 92735301 [T/G] NM_053274 GLMN EXON Missense_H319P exm75051 1 92737046 [A/G] NM_053274 GLMN EXON Missense_I300T exm75054 1 92737089 [T/C] NM_053274 GLMN EXON Missense_M286V exm1930749 1 92737184 [C/G] NM_053274 GLMN EXON Missense_P254R exm75066 1 92754667 [T/C] NM_053274 GLMN EXON Missense_A146T exm75072 1 92756989 [T/C] NM_053274 GLMN EXON Missense_D91N exm75075 1 92762982 [A/C] NM_053274 GLMN EXON Missense_I48M exm75077 1 92763008 [G/C] NM_053274 GLMN EXON Missense_G40R exm75081 1 92763068 [T/C] NM_053274 GLMN EXON Missense_D20N exm75100 1 92767132 [G/C] NM_024813 RPAP2 EXON Missense_E73D exm75123 1 92789342 [A/G] NM_024813 RPAP2 EXON Missense_E289K exm75124 1 92789409 [T/C] NM_024813 RPAP2 EXON Missense_A311V exm75136 1 92789806 [T/G] NM_024813 RPAP2 EXON Missense_I443M exm75143 1 92799008 [A/G] NM_024813 RPAP2 EXON Missense_V506I exm2265027 1 92843178 [A/G] NM_024813 RPAP2 Silent exm2233992 1 92846306 [A/G] NM_024813 RPAP2 EXON Missense_K572E exm75149 1 92846322 [A/G] NM_024813 RPAP2 EXON Missense_G577D exm75150 1 92846346 [A/T] NM_024813 RPAP2 EXON Missense_D585V exm75161 1 92941657 [A/G] NM_001127216,NM_001127215,NM_005263 GFI1,GFI1,GFI1 EXON Missense_L400F,Missense_L400F,Missense_L400F exm75178 1 92946226 [C/G] NM_001127216,NM_001127215,NM_005263 GFI1,GFI1,GFI1 EXON Missense_E240Q,Missense_E240Q,Missense_E240Q exm75204 1 92948938 [T/C] NM_001127216,NM_001127215,NM_005263 GFI1,GFI1,GFI1 EXON Missense_S36N,Missense_S36N,Missense_S36N exm75216 1 92979254 [A/G] NM_005665 EVI5 EXON Missense_R798W exm75220 1 92979331 [A/G] NM_005665 EVI5 EXON Missense_V772A exm75221 1 92979335 [T/C] NM_005665 EVI5 EXON Missense_A771T exm-rs7515577 1 93009438 [A/C] NM_005665 EVI5 Silent exm75232 1 93029245 [T/C] NM_005665 EVI5 EXON Missense_Q691R exm75235 1 93070892 [T/C] NM_005665 EVI5 EXON Missense_R665Q exm75237 1 93070934 [T/C] NM_005665 EVI5 EXON Missense_R651K exm75244 1 93073228 [A/C] NM_005665 EVI5 EXON Missense_Q612H exm75252 1 93089873 [T/C] NM_005665 EVI5 EXON Missense_T547A exm75253 1 93089887 [T/C] NM_005665 EVI5 EXON Missense_H542R exm75254 1 93089891 [A/G] NM_005665 EVI5 EXON Missense_R541C exm1931397 1 93142719 [A/G] NM_005665 EVI5 EXON Missense_I429T exm75267 1 93142746 [A/G] NM_005665 EVI5 EXON Missense_T420M exm75269 1 93159927 [A/G] NM_005665 EVI5 EXON Missense_R354C exm75272 1 93160880 [A/G] NM_005665 EVI5 EXON Missense_I343T exm75274 1 93160902 [T/C] NM_005665 EVI5 EXON Missense_I336V exm75288 1 93169106 [T/C] NM_005665 EVI5 EXON Missense_S181N exm2273662 1 93201961 [T/C] NM_005665 EVI5 EXON Missense_Q92R exm-rs6604026 1 93303603 [T/C] NM_000969,NM_001252273 RPL5,FAM69A Silent,Silent exm75369 1 93309316 [T/C] NM_001252273,NM_001252271,NM_001006605,NM_001252269,NM_001252270 FAM69A,FAM69A,FAM69A,FAM69A,FAM69A EXON Silent,Missense_D279G,Missense_D304G,Missense_D259G,Missense_D245G exm75373 1 93312749 [T/A] NM_001252273,NM_001252271,NM_001006605,NM_001252269,NM_001252270 FAM69A,FAM69A,FAM69A,FAM69A,FAM69A EXON Missense_S155R,Missense_S130R,Missense_S155R,Missense_S110R,Silent exm-rs10874746 1 93323971 [T/C] NM_001252273,NM_001252271,NM_001006605,NM_001252269,NM_001252270 FAM69A,FAM69A,FAM69A,FAM69A,FAM69A Silent,Silent,Silent,Silent,Silent exm75380 1 93341897 [T/C] NM_001252273,NM_001252271,NM_001006605,NM_001252269,NM_001252270 FAM69A,FAM69A,FAM69A,FAM69A,FAM69A EXON Missense_T49A,Missense_T24A,Missense_T49A,Silent,Missense_T49A exm-rs12745968 1 93401837 [A/G] NM_001252273,NM_001006605,NM_001252269,NM_001252270 FAM69A,FAM69A,FAM69A,FAM69A Silent,Silent,Silent,Silent exm2264873 1 93477292 [A/G] exm75395 1 93576132 [A/G] NM_001164392,NM_007358,NM_001164393,NM_001164391 MTF2,MTF2,MTF2,MTF2 EXON Missense_I79V,Missense_I79V,Silent,Silent exm75401 1 93580580 [A/T] NM_001164392,NM_007358,NM_001164393,NM_001164391 MTF2,MTF2,MTF2,MTF2 EXON Missense_C140S,Missense_C140S,Missense_C38S,Missense_C38S exm75402 1 93580581 [C/G] NM_001164392,NM_007358,NM_001164393,NM_001164391 MTF2,MTF2,MTF2,MTF2 EXON Missense_C140S,Missense_C140S,Missense_C38S,Missense_C38S exm2260857 1 93584606 [A/G] NM_001164392,NM_007358,NM_001164393,NM_001164391 MTF2,MTF2,MTF2,MTF2 Silent,Silent,Silent,Silent exm75437 1 93599677 [A/G] NM_001164392,NM_007358,NM_001164393,NM_001164391 MTF2,MTF2,MTF2,MTF2 EXON Missense_N393S,Missense_N450S,Missense_N348S,Missense_N348S exm75446 1 93602292 [A/G] NM_001164392,NM_007358,NM_001164393,NM_001164391 MTF2,MTF2,MTF2,MTF2 EXON Missense_R440Q,Missense_R497Q,Missense_R395Q,Missense_R395Q exm75448 1 93602364 [A/G] NM_001164392,NM_007358,NM_001164393,NM_001164391 MTF2,MTF2,MTF2,MTF2 EXON Missense_G464D,Missense_G521D,Missense_G419D,Missense_G419D exm75451 1 93602439 [A/G] NM_001164392,NM_007358,NM_001164393,NM_001164391 MTF2,MTF2,MTF2,MTF2 EXON Missense_N489S,Missense_N546S,Missense_N444S,Missense_N444S exm75455 1 93620318 [A/G] NR_030761,NM_016040,NM_001167830 TMED5,TMED5,TMED5 EXON Silent,Missense_M200T,Silent exm2234004 1 93620328 [T/A] NR_030761,NM_016040,NM_001167830 TMED5,TMED5,TMED5 EXON Silent,Missense_F197I,Silent exm75457 1 93620354 [T/C] NR_030761,NM_016040,NM_001167830 TMED5,TMED5,TMED5 EXON Silent,Missense_Q188R,Silent exm75460 1 93620393 [A/G] NR_030761,NM_016040,NM_001167830 TMED5,TMED5,TMED5 EXON Silent,Missense_T175I,Synonymous_N191N exm1934178 1 93651937 [T/G] NM_206886 CCDC18 EXON Missense_I113M exm75511 1 93651947 [T/C] NM_206886 CCDC18 EXON Nonsense_R117X exm75517 1 93657581 [C/G] NM_206886 CCDC18 EXON Missense_Q163E exm75524 1 93667456 [T/C] NM_206886 CCDC18 EXON Nonsense_R236X exm2234005 1 93672671 [A/T] NM_206886 CCDC18 EXON Nonsense_K309X exm75531 1 93672720 [T/A] NM_206886 CCDC18 EXON Missense_K325I exm75532 1 93672723 [A/C] NM_206886 CCDC18 EXON Missense_N326T exm75535 1 93672827 [A/G] NM_206886 CCDC18 EXON Missense_M361V exm75536 1 93672840 [A/G] NM_206886 CCDC18 EXON Missense_R365Q exm75538 1 93672875 [T/C] NM_206886 CCDC18 EXON Nonsense_R377X exm75541 1 93676391 [T/G] NM_206886 CCDC18 EXON Nonsense_Y414X exm75542 1 93676434 [T/C] NM_206886 CCDC18 EXON Missense_R429C exm75547 1 93677666 [T/C] NM_206886 CCDC18 EXON Missense_L448P exm75549 1 93677761 [A/G] NM_206886 CCDC18 EXON Missense_S480G exm75550 1 93677792 [A/C] NM_206886 CCDC18 EXON Missense_P490H exm75552 1 93680333 [T/C] NM_206886 CCDC18 EXON Missense_M510T exm75557 1 93680515 [A/G] NM_206886 CCDC18 EXON Missense_E571K exm75559 1 93682193 [T/A] NM_206886 CCDC18 EXON Missense_M574L exm75564 1 93683379 [A/G] NM_206886 CCDC18 EXON Missense_K639E exm75566 1 93687187 [A/C] NM_206886 CCDC18 EXON Missense_K662Q exm75571 1 93687292 [A/G] NM_206886 CCDC18 EXON Missense_S697G exm75591 1 93704878 [T/C] NM_206886 CCDC18 EXON Missense_I872T exm75593 1 93704941 [A/G] NM_206886 CCDC18 EXON Missense_R893Q exm75594 1 93704952 [A/G] NM_206886 CCDC18 EXON Missense_N897D exm75595 1 93704967 [T/C] NM_206886 CCDC18 EXON Missense_L902F exm75603 1 93711733 [A/G] NM_206886 CCDC18 EXON Missense_N1018S exm75612 1 93720070 [G/C] NM_206886 CCDC18 EXON Missense_L1081V exm2275462 1 93720153 [A/G] NM_206886 CCDC18 EXON Synonymous_R1108R exm75620 1 93724389 [A/G] NM_206886 CCDC18 EXON Missense_I1211V exm75622 1 93730286 [A/G] NM_206886 CCDC18 EXON Missense_K1238R exm75624 1 93730343 [T/G] NM_206886 CCDC18 EXON Nonsense_L1257X exm75627 1 93730380 [T/A] NM_206886 CCDC18 EXON Missense_D1269E exm75630 1 93730427 [T/C] NM_206886 CCDC18 EXON Missense_I1285T exm75645 1 93812276 [T/C] NM_001938 DR1 EXON Missense_T25I exm75651 1 93826068 [A/G] NM_001938 DR1 EXON Missense_E135K exm75655 1 93826178 [A/T] NM_001938 DR1 EXON Missense_E171D exm75666 1 93988986 [A/G] NM_001164473,NM_001024948,NM_017737 FNBP1L,FNBP1L,FNBP1L EXON Missense_A94T,Missense_A94T,Missense_A94T exm75688 1 93998617 [A/G] NM_001164473,NM_001024948,NM_017737 FNBP1L,FNBP1L,FNBP1L EXON Missense_E260K,Missense_E260K,Missense_E260K exm75692 1 94000386 [A/G] NM_001164473,NM_001024948,NM_017737 FNBP1L,FNBP1L,FNBP1L EXON Missense_Q304R,Missense_Q304R,Missense_Q304R exm75698 1 94012521 [A/G] NM_001164473,NM_001024948,NM_017737 FNBP1L,FNBP1L,FNBP1L EXON Missense_H466R,Missense_H408R,Missense_H408R exm75704 1 94014876 [A/G] NM_001164473,NM_001024948,NM_017737 FNBP1L,FNBP1L,FNBP1L EXON Missense_R515H,Missense_R457H,Missense_R457H exm75706 1 94014906 [A/G] NM_001164473,NM_001024948,NM_017737 FNBP1L,FNBP1L,FNBP1L EXON Missense_N525S,Missense_N467S,Missense_N467S exm75719 1 94027910 [C/G] NM_003567,NM_001261408,NM_001261409,NM_001261410 BCAR3,BCAR3,BCAR3,BCAR3 EXON Missense_G789A,Missense_G789A,Missense_G789A,Missense_G698A exm75724 1 94032862 [T/C] NM_003567,NM_001261408,NM_001261409,NM_001261410 BCAR3,BCAR3,BCAR3,BCAR3 EXON Missense_R758Q,Missense_R758Q,Missense_R758Q,Missense_R667Q exm75725 1 94032881 [T/C] NM_003567,NM_001261408,NM_001261409,NM_001261410 BCAR3,BCAR3,BCAR3,BCAR3 EXON Missense_E752K,Missense_E752K,Missense_E752K,Missense_E661K exm75728 1 94032937 [T/C] NM_003567,NM_001261408,NM_001261409,NM_001261410 BCAR3,BCAR3,BCAR3,BCAR3 EXON Missense_N733S,Missense_N733S,Missense_N733S,Missense_N642S exm75734 1 94032991 [A/G] NM_003567,NM_001261408,NM_001261409,NM_001261410 BCAR3,BCAR3,BCAR3,BCAR3 EXON Missense_T715M,Missense_T715M,Missense_T715M,Missense_T624M exm75735 1 94033042 [A/G] NM_003567,NM_001261408,NM_001261409,NM_001261410 BCAR3,BCAR3,BCAR3,BCAR3 EXON Missense_T698I,Missense_T698I,Missense_T698I,Missense_T607I exm75745 1 94037330 [A/G] NM_003567,NM_001261408,NM_001261409,NM_001261410 BCAR3,BCAR3,BCAR3,BCAR3 EXON Missense_A624V,Missense_A624V,Missense_A624V,Missense_A533V exm75750 1 94037397 [A/G] NM_003567,NM_001261408,NM_001261409,NM_001261410 BCAR3,BCAR3,BCAR3,BCAR3 EXON Missense_H602Y,Missense_H602Y,Missense_H602Y,Missense_H511Y exm75769 1 94048105 [A/T] NM_003567,NM_001261408,NM_001261409,NM_001261410 BCAR3,BCAR3,BCAR3,BCAR3 EXON Missense_D480V,Missense_D480V,Missense_D480V,Missense_D389V exm75774 1 94048153 [T/C] NM_003567,NM_001261408,NM_001261409,NM_001261410 BCAR3,BCAR3,BCAR3,BCAR3 EXON Missense_E464G,Missense_E464G,Missense_E464G,Missense_E373G exm75779 1 94048294 [A/G] NM_003567,NM_001261408,NM_001261409,NM_001261410 BCAR3,BCAR3,BCAR3,BCAR3 EXON Missense_S417L,Missense_S417L,Missense_S417L,Missense_S326L exm75793 1 94049576 [A/G] NM_003567,NM_001261408,NM_001261409,NM_001261410 BCAR3,BCAR3,BCAR3,BCAR3 EXON Synonymous_I344I,Synonymous_I344I,Synonymous_I344I,Synonymous_I253I exm75801 1 94054577 [T/C] NM_003567,NM_001261408,NM_001261409,NM_001261410 BCAR3,BCAR3,BCAR3,BCAR3 EXON Missense_V296I,Missense_V296I,Missense_V296I,Missense_V205I exm75802 1 94054627 [A/G] NM_003567,NM_001261408,NM_001261409,NM_001261410 BCAR3,BCAR3,BCAR3,BCAR3 EXON Missense_T279I,Missense_T279I,Missense_T279I,Missense_T188I exm75804 1 94054643 [A/G] NM_003567,NM_001261408,NM_001261409,NM_001261410 BCAR3,BCAR3,BCAR3,BCAR3 EXON Missense_R274W,Missense_R274W,Missense_R274W,Missense_R183W exm75808 1 94054684 [T/C] NM_003567,NM_001261408,NM_001261409,NM_001261410 BCAR3,BCAR3,BCAR3,BCAR3 EXON Missense_R260Q,Missense_R260Q,Missense_R260Q,Missense_R169Q exm75812 1 94054724 [T/C] NM_003567,NM_001261408,NM_001261409,NM_001261410 BCAR3,BCAR3,BCAR3,BCAR3 EXON Missense_A247T,Missense_A247T,Missense_A247T,Missense_A156T exm75815 1 94054751 [A/G] NM_003567,NM_001261408,NM_001261409,NM_001261410 BCAR3,BCAR3,BCAR3,BCAR3 EXON Missense_R238C,Missense_R238C,Missense_R238C,Missense_R147C exm75816 1 94054765 [T/C] NM_003567,NM_001261408,NM_001261409,NM_001261410 BCAR3,BCAR3,BCAR3,BCAR3 EXON Missense_C233Y,Missense_C233Y,Missense_C233Y,Missense_C142Y exm75821 1 94054820 [T/C] NM_003567,NM_001261408,NM_001261409,NM_001261410 BCAR3,BCAR3,BCAR3,BCAR3 EXON Missense_V215M,Missense_V215M,Missense_V215M,Missense_V124M exm2275463 1 94054835 [C/G] NM_003567,NM_001261408,NM_001261409,NM_001261410 BCAR3,BCAR3,BCAR3,BCAR3 EXON Missense_E210Q,Missense_E210Q,Missense_E210Q,Missense_E119Q exm75822 1 94054843 [T/C] NM_003567,NM_001261408,NM_001261409,NM_001261410 BCAR3,BCAR3,BCAR3,BCAR3 EXON Missense_R207Q,Missense_R207Q,Missense_R207Q,Missense_R116Q exm75831 1 94057835 [T/C] NM_003567,NM_001261408,NM_001261409,NM_001261410,NR_034091 BCAR3,BCAR3,BCAR3,BCAR3,LOC100129046 EXON Missense_R158H,Missense_R158H,Missense_R158H,Missense_R67H,Silent exm75838 1 94107891 [T/C] NM_003567,NM_001261408,NM_001261409 BCAR3,BCAR3,BCAR3 EXON Missense_H109R,Missense_H109R,Missense_H109R exm2268725 1 94115299 [T/C] NM_003567,NM_001261408,NM_001261409 BCAR3,BCAR3,BCAR3 Silent,Silent,Silent exm75840 1 94140189 [T/C] NM_003567,NM_001261408,NM_001261409 BCAR3,BCAR3,BCAR3 EXON Missense_G100S,Missense_G100S,Missense_G100S exm75843 1 94140199 [G/C] NM_003567,NM_001261408,NM_001261409 BCAR3,BCAR3,BCAR3 EXON Missense_Q96H,Missense_Q96H,Missense_Q96H exm75851 1 94140375 [A/G] NM_003567,NM_001261408,NM_001261409 BCAR3,BCAR3,BCAR3 EXON Missense_R38C,Missense_R38C,Missense_R38C exm75852 1 94140377 [A/T] NM_003567,NM_001261408,NM_001261409 BCAR3,BCAR3,BCAR3 EXON Missense_H37L,Missense_H37L,Missense_H37L exm75855 1 94140470 [T/A] NM_003567,NM_001261408,NM_001261409 BCAR3,BCAR3,BCAR3 EXON Missense_F6Y,Missense_F6Y,Missense_F6Y exm75856 1 94140479 [C/G] NM_003567,NM_001261408,NM_001261409 BCAR3,BCAR3,BCAR3 EXON Missense_A3G,Missense_A3G,Missense_A3G exm1940232 1 94335432 [T/C] NM_014597 DNTTIP2 EXON Missense_R749Q exm75867 1 94335436 [A/C] NM_014597 DNTTIP2 EXON Missense_F748V exm75869 1 94337638 [T/C] NM_014597 DNTTIP2 EXON Missense_K686R exm1940265 1 94337702 [T/C] NM_014597 DNTTIP2 EXON Missense_K665E exm75874 1 94338679 [T/C] NM_014597 DNTTIP2 EXON Missense_R633H exm75880 1 94341825 [A/G] NM_014597 DNTTIP2 EXON Missense_L556F exm75890 1 94342061 [T/C] NM_014597 DNTTIP2 EXON Missense_G477E exm75891 1 94342103 [A/G] NM_014597 DNTTIP2 EXON Missense_L463S exm75895 1 94342202 [A/G] NM_014597 DNTTIP2 EXON Missense_A430V exm75907 1 94342564 [A/C] NM_014597 DNTTIP2 EXON Missense_E309D exm75909 1 94342647 [T/C] NM_014597 DNTTIP2 EXON Missense_E282K exm75925 1 94343294 [T/C] NM_014597 DNTTIP2 EXON Missense_K66R exm75926 1 94343375 [A/G] NM_014597 DNTTIP2 EXON Missense_T39I exm75937 1 94354629 [T/G] NM_002061 GCLM EXON Missense_L248M exm75944 1 94362293 [C/G] NM_002061 GCLM EXON Missense_E141Q exm75947 1 94363421 [A/G] NM_002061 GCLM EXON Missense_S104L exm75970 1 94461717 [A/C] NM_000350 ABCA4 EXON Missense_S2255I exm-rs17110736 1 94462769 [A/G] NM_000350 ABCA4 Silent exm75974 1 94463425 [G/C] NM_000350 ABCA4 EXON Missense_L2241V exm75982 1 94463617 [T/C] NM_000350 ABCA4 EXON Missense_D2177N exm75994 1 94466624 [T/C] NM_000350 ABCA4 EXON Missense_R2107H exm76012 1 94467548 [C/G] NM_000350 ABCA4 EXON Missense_V2050L exm76014 1 94471025 [T/C] NM_000350 ABCA4 EXON Missense_R2040Q exm76016 1 94471055 [T/C] NM_000350 ABCA4 EXON Missense_R2030Q exm76018 1 94471065 [A/G] NM_000350 ABCA4 EXON Missense_L2027F exm76023 1 94473203 [T/C] NM_000350 ABCA4 EXON Missense_V1998I exm76027 1 94473287 [A/G] NM_000350 ABCA4 EXON Missense_L1970F exm76028 1 94473807 [T/C] NM_000350 ABCA4 EXON Missense_G1961E exm76029 1 94473808 [T/C] NM_000350 ABCA4 EXON Missense_G1961R exm76031 1 94473846 [A/G] NM_000350 ABCA4 EXON Missense_P1948L exm2234013 1 94474387 [A/C] NM_000350 ABCA4 EXON Missense_D1919Y exm76037 1 94474408 [T/C] NM_000350 ABCA4 EXON Missense_E1912K exm76038 1 94474420 [C/G] NM_000350 ABCA4 EXON Missense_E1908Q exm76043 1 94476377 [T/C] NM_000350 ABCA4 EXON Missense_R1898H exm2273664 1 94476477 [A/G] NM_000350 ABCA4 EXON Missense_H1865Y exm76052 1 94476484 [A/T] NM_000350 ABCA4 EXON Synonymous_G1862G exm76067 1 94480221 [G/C] NM_000350 ABCA4 EXON Missense_P1780A exm2234014 1 94485220 [T/C] NM_000350 ABCA4 EXON Missense_R1705Q exm76082 1 94485247 [T/C] NM_000350 ABCA4 EXON Missense_S1696N exm76083 1 94485257 [T/C] NM_000350 ABCA4 EXON Missense_V1693I exm76087 1 94485278 [T/C] NM_000350 ABCA4 EXON Missense_V1686M exm76095 1 94486889 [A/C] NM_000350 ABCA4 EXON Missense_S1642I exm76096 1 94486905 [T/C] NM_000350 ABCA4 EXON Missense_A1637T exm76100 1 94487404 [T/C] NM_000350 ABCA4 EXON Missense_G1591R exm1941553 1 94487460 [A/G] NM_000350 ABCA4 EXON Missense_T1572M exm76109 1 94487490 [A/G] NM_000350 ABCA4 EXON Missense_I1562T exm76114 1 94490534 [A/G] NM_000350 ABCA4 EXON Missense_T1537M exm76121 1 94490588 [A/G] NM_000350 ABCA4 EXON Missense_T1519M exm76124 1 94495037 [G/C] NM_000350 ABCA4 EXON Missense_E1501D exm76126 1 94495073 [A/C] NM_000350 ABCA4 EXON Missense_R1489S exm76127 1 94495123 [T/G] NM_000350 ABCA4 EXON Missense_L1473M exm76135 1 94496039 [T/C] NM_000350 ABCA4 EXON Missense_V1433I exm76138 1 94496053 [A/G] NM_000350 ABCA4 EXON Missense_T1428M exm76150 1 94496666 [A/G] NM_000350 ABCA4 EXON Missense_P1380L exm76165 1 94497563 [T/C] NM_000350 ABCA4 EXON Missense_R1300Q exm76186 1 94502888 [A/G] NM_000350 ABCA4 EXON Missense_M1209T exm76187 1 94502906 [T/C] NM_000350 ABCA4 EXON Missense_G1203E exm76188 1 94505604 [A/C] NM_000350 ABCA4 EXON Missense_L1201R exm76195 1 94505659 [A/C] NM_000350 ABCA4 EXON Missense_G1183C exm76204 1 94506901 [A/C] NM_000350 ABCA4 EXON Missense_R1129L exm76219 1 94508969 [A/G] NM_000350 ABCA4 EXON Missense_A1038V exm76222 1 94509026 [A/G] NM_000350 ABCA4 EXON Missense_T1019M exm76225 1 94510248 [C/G] NM_000350 ABCA4 EXON Missense_G991R exm76226 1 94510253 [A/G] NM_000350 ABCA4 EXON Missense_V989A exm76230 1 94510289 [A/G] NM_000350 ABCA4 EXON Missense_T977M exm76235 1 94512499 [T/C] NM_000350 ABCA4 EXON Missense_N965S exm76241 1 94512565 [T/C] NM_000350 ABCA4 EXON Missense_R943Q exm76242 1 94512566 [A/G] NM_000350 ABCA4 EXON Missense_R943W exm76244 1 94512580 [A/G] NM_000350 ABCA4 EXON Missense_F938S exm76248 1 94514424 [T/C] NM_000350 ABCA4 EXON Missense_D915N exm76251 1 94514466 [T/C] NM_000350 ABCA4 EXON Missense_T901A exm76252 1 94514475 [T/C] NM_000350 ABCA4 EXON Missense_E898K exm76253 1 94514477 [A/G] NM_000350 ABCA4 EXON Missense_T897I exm76257 1 94517190 [T/C] NM_000350 ABCA4 EXON Synonymous_E884E exm76261 1 94517254 [C/G] NM_000350 ABCA4 EXON Missense_G863A exm76266 1 94520708 [A/G] NM_000350 ABCA4 EXON Missense_V849A exm76271 1 94520768 [A/G] NM_000350 ABCA4 EXON Missense_T829M exm76278 1 94522177 [T/C] NM_000350 ABCA4 EXON Missense_A788T exm76289 1 94526284 [T/C] NM_000350 ABCA4 EXON Missense_I657V exm76291 1 94526289 [A/C] NM_000350 ABCA4 EXON Missense_F655C exm76297 1 94528142 [A/C] NM_000350 ABCA4 EXON Missense_V643G exm76298 1 94528143 [T/C] NM_000350 ABCA4 EXON Missense_V643M exm76302 1 94528209 [T/C] NM_000350 ABCA4 EXON Missense_R621G exm76307 1 94528278 [T/C] NM_000350 ABCA4 EXON Missense_V598M exm76312 1 94528774 [T/C] NM_000350 ABCA4 EXON Missense_V552I exm76316 1 94528806 [A/G] NM_000350 ABCA4 EXON Missense_L541P exm76317 1 94528818 [T/C] NM_000350 ABCA4 EXON Missense_R537H exm76319 1 94528836 [T/C] NM_000350 ABCA4 EXON Missense_E531G exm76321 1 94543268 [T/C] NM_000350 ABCA4 EXON Missense_R511H exm76322 1 94543278 [A/G] NM_000350 ABCA4 EXON Missense_R508C exm76331 1 94543389 [T/C] NM_000350 ABCA4 EXON Missense_E471K exm76337 1 94544234 [T/C] NM_000350 ABCA4 EXON Missense_H423R exm76338 1 94544235 [A/G] NM_000350 ABCA4 EXON Missense_H423Y exm76348 1 94544977 [T/A] NM_000350 ABCA4 EXON Missense_N380K exm76362 1 94546261 [A/G] NM_000350 ABCA4 EXON Missense_P291L exm1942187 1 94548919 [T/C] NM_000350 ABCA4 EXON Missense_R283G exm76363 1 94548928 [T/A] NM_000350 ABCA4 EXON Missense_M280L exm2264874 1 94560938 [A/G] NM_000350 ABCA4 Silent exm1942370 1 94564376 [T/C] NM_000350 ABCA4 EXON Missense_V248M exm76374 1 94564451 [T/G] NM_000350 ABCA4 EXON Missense_K223Q exm2275465 1 94564500 [A/G] NM_000350 ABCA4 EXON Synonymous_S206S exm76380 1 94564522 [A/G] NM_000350 ABCA4 EXON Missense_A199V exm76381 1 94564529 [C/G] NM_000350 ABCA4 EXON Missense_D197H exm1942376 1 94564543 [A/G] NM_000350 ABCA4 EXON Missense_A192V exm76383 1 94564544 [T/C] NM_000350 ABCA4 EXON Missense_A192T exm76384 1 94568581 [T/C] NM_000350 ABCA4 EXON Missense_R187H exm76385 1 94568627 [T/C] NM_000350 ABCA4 EXON Missense_G172S exm76387 1 94568675 [T/C] NM_000350 ABCA4 EXON Missense_I156V exm76389 1 94568686 [T/C] NM_000350 ABCA4 EXON Missense_R152Q exm1942421 1 94574205 [A/G] NM_000350 ABCA4 EXON Missense_R124C exm76392 1 94574258 [T/A] NM_000350 ABCA4 EXON Missense_Y106F exm76394 1 94577002 [G/C] NM_000350 ABCA4 EXON Missense_N98K exm76401 1 94577135 [T/C] NM_000350 ABCA4 EXON Missense_C54Y exm76403 1 94578549 [A/G] NM_000350 ABCA4 EXON Missense_P47L exm76407 1 94586550 [A/G] NM_000350 ABCA4 EXON Missense_R18W exm-rs2774920 1 94611300 [A/G] exm76426 1 94639856 [T/C] NM_004815 ARHGAP29 EXON Missense_I1119V exm76433 1 94640024 [T/C] NM_004815 ARHGAP29 EXON Missense_T1063A exm76434 1 94640030 [T/C] NM_004815 ARHGAP29 EXON Missense_A1061T exm76437 1 94640188 [T/C] NM_004815 ARHGAP29 EXON Missense_R1008K exm76442 1 94640254 [A/G] NM_004815 ARHGAP29 EXON Missense_I986T exm76448 1 94643209 [T/C] NM_004815 ARHGAP29 EXON Missense_R955H exm76453 1 94643466 [A/G] NM_004815 ARHGAP29 EXON Missense_S913L exm76454 1 94643526 [T/G] NM_004815 ARHGAP29 EXON Missense_Q893P exm76458 1 94643581 [T/C] NM_004815 ARHGAP29 EXON Missense_V875I exm76466 1 94645368 [T/C] NM_004815 ARHGAP29 EXON Missense_R798Q exm76481 1 94651026 [A/G] NM_004815 ARHGAP29 EXON Missense_L598F exm76483 1 94652062 [T/C] NM_004815 ARHGAP29 EXON Synonymous_S591S exm2253910 1 94652062 [T/C] NM_004815 ARHGAP29 EXON Synonymous_S591S exm76484 1 94652109 [T/C] NM_004815 ARHGAP29 EXON Missense_M576V exm76488 1 94654810 [A/G] NM_004815 ARHGAP29 EXON Missense_I513T exm76491 1 94654870 [T/C] NM_004815 ARHGAP29 EXON Missense_G493E exm2275467 1 94668200 [A/C] NM_004815 ARHGAP29 EXON Missense_R348L exm76515 1 94668488 [C/G] NM_004815 ARHGAP29 EXON Missense_E314Q exm76520 1 94668734 [A/C] NM_004815 ARHGAP29 EXON Missense_N265K exm76525 1 94670725 [T/C] NM_004815 ARHGAP29 EXON Missense_V197M exm76539 1 94685903 [T/C] NM_004815 ARHGAP29 EXON Missense_R84H exm76544 1 94696978 [T/C] NM_004815 ARHGAP29 EXON Missense_E64K exm76553 1 94697167 [T/C] NM_004815 ARHGAP29 EXON Missense_M1V exm76563 1 94924174 [A/G] NM_002858,NM_001122674 ABCD3,ABCD3 EXON Missense_G41E,Missense_G41E exm2234029 1 94953137 [A/G] NM_002858 ABCD3 EXON Missense_M313V exm76598 1 94955371 [A/G] NM_002858 ABCD3 EXON Synonymous_K416K exm76630 1 94996062 [T/C] NM_001993,NM_001178096 F3,F3 EXON Missense_G281E,Missense_E228K exm76635 1 94997934 [A/G] NM_001993,NM_001178096 F3,F3 EXON Missense_R232W,Silent exm76642 1 94998750 [A/G] NM_001993,NM_001178096 F3,F3 EXON Missense_R163W,Missense_R163W exm76655 1 95001655 [T/C] NM_001993,NM_001178096 F3,F3 EXON Missense_D93G,Missense_D93G exm76659 1 95005865 [T/C] NM_001993,NM_001178096 F3,F3 EXON Missense_I54V,Missense_I54V exm76660 1 95005907 [T/C] NM_001993,NM_001178096 F3,F3 EXON Missense_A40T,Missense_A40T exm76661 1 95005919 [T/C] NM_001993,NM_001178096 F3,F3 EXON Missense_T36A,Missense_T36A exm2268913 1 95140173 [T/G] exm2268726 1 95276691 [T/C] exm76670 1 95286518 [G/C] NM_001258340,NM_001258341,NM_001114106,NM_001258343,NM_001258342,NM_152369 SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3 EXON Missense_G14A,Missense_G14A,Missense_G14A,Silent,Silent,Silent exm76673 1 95290064 [T/C] NM_001258340,NM_001258341,NM_001114106,NM_001258343,NM_001258342,NM_152369 SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3 EXON Missense_Y51H,Missense_Y51H,Missense_Y51H,Missense_Y15H,Missense_Y15H,Missense_Y3H exm76687 1 95294047 [A/C] NM_001258340,NM_001258341,NM_001114106,NM_001258343,NM_001258342,NM_152369 SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3 Silent,Silent,Silent,Silent,Silent,Silent exm76693 1 95303290 [A/G] NM_001258340,NM_001258341,NM_001114106,NM_001258343,NM_001258342,NM_152369 SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3 EXON Missense_R178Q,Missense_R146Q,Missense_R178Q,Missense_R110Q,Missense_R142Q,Missense_R130Q exm1948977 1 95303364 [T/C] NM_001258340,NM_001258341,NM_001114106,NM_001258343,NM_001258342,NM_152369 SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3 EXON Nonsense_R203X,Nonsense_R171X,Nonsense_R203X,Nonsense_R135X,Nonsense_R167X,Nonsense_R155X exm76698 1 95305504 [A/C] NM_001258340,NM_001258341,NM_001114106,NM_001258343,NM_001258342,NM_152369 SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3 EXON Missense_A224D,Missense_A192D,Missense_A224D,Missense_A156D,Missense_A188D,Missense_A176D exm76701 1 95305578 [A/G] NM_001258340,NM_001258341,NM_001114106,NM_001258343,NM_001258342,NM_152369 SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3 EXON Missense_I249V,Missense_I217V,Missense_I249V,Missense_I181V,Missense_I213V,Missense_I201V exm76702 1 95307600 [A/G] NM_001258340,NM_001258341,NM_001114106,NM_001258343,NM_001258342,NM_152369 SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3 EXON Missense_D269N,Missense_D237N,Missense_D269N,Missense_D201N,Missense_D233N,Missense_D221N exm1949012 1 95307636 [A/G] NM_001258340,NM_001258341,NM_001114106,NM_001258343,NM_001258342,NM_152369 SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3 EXON Missense_M281V,Missense_M249V,Missense_M281V,Missense_M213V,Missense_M245V,Missense_M233V exm76721 1 95322899 [T/C] NM_001258340,NM_001258341,NM_001114106,NM_001258343,NM_001258342,NM_152369 SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3 EXON Nonsense_Q361X,Nonsense_Q329X,Nonsense_Q361X,Nonsense_Q293X,Nonsense_Q325X,Nonsense_Q313X exm76722 1 95322902 [A/G] NM_001258340,NM_001258341,NM_001114106,NM_001258343,NM_001258342,NM_152369 SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3 EXON Missense_V362I,Missense_V330I,Missense_V362I,Missense_V294I,Missense_V326I,Missense_V314I exm76723 1 95322939 [T/C] NM_001258340,NM_001258341,NM_001114106,NM_001258343,NM_001258342,NM_152369 SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3 EXON Missense_S374L,Missense_S342L,Missense_S374L,Missense_S306L,Missense_S338L,Missense_S326L exm76727 1 95322960 [T/C] NM_001258340,NM_001258341,NM_001114106,NM_001258343,NM_001258342,NM_152369 SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3 EXON Missense_S381L,Missense_S349L,Missense_S381L,Missense_S313L,Missense_S345L,Missense_S333L exm1949117 1 95330297 [A/G] NM_001258340,NM_001258341,NM_001114106,NM_001258343,NM_001258342,NM_152369 SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3 Silent,Silent,Silent,Silent,Silent,Silent exm76734 1 95330361 [A/G] NM_001258340,NM_001258341,NM_001114106,NM_001258343,NM_001258342,NM_152369 SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3 EXON Missense_H434R,Missense_H402R,Missense_H434R,Missense_H366R,Missense_H398R,Missense_H386R exm76735 1 95330372 [A/G] NM_001258340,NM_001258341,NM_001114106,NM_001258343,NM_001258342,NM_152369 SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3 EXON Missense_V438I,Missense_V406I,Missense_V438I,Missense_V370I,Missense_V402I,Missense_V390I exm76736 1 95330373 [T/C] NM_001258340,NM_001258341,NM_001114106,NM_001258343,NM_001258342,NM_152369 SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3 EXON Missense_V438A,Missense_V406A,Missense_V438A,Missense_V370A,Missense_V402A,Missense_V390A exm76740 1 95330427 [T/C] NM_001258340,NM_001258341,NM_001114106,NM_001258343,NM_001258342,NM_152369 SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3 EXON Missense_M456T,Missense_M424T,Missense_M456T,Missense_M388T,Missense_M420T,Missense_M408T exm1949130 1 95332906 [T/G] NM_001258340,NM_001258341,NM_001114106,NM_001258343,NM_001258342,NM_152369 SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3 EXON Missense_R471M,Missense_R439M,Missense_R472M,Missense_R404M,Missense_R436M,Missense_R424M exm76744 1 95332918 [A/G] NM_001258340,NM_001258341,NM_001114106,NM_001258343,NM_001258342,NM_152369 SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3 EXON Missense_R475Q,Missense_R443Q,Missense_R476Q,Missense_R408Q,Missense_R440Q,Missense_R428Q exm76748 1 95356809 [A/G] NM_001258340,NM_001258341,NM_001114106,NM_001258343,NM_001258342,NM_152369 SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3 EXON Missense_I535V,Missense_I503V,Missense_I536V,Missense_I468V,Missense_I500V,Missense_I488V exm76749 1 95357849 [T/C] NM_001258340,NM_001258341,NM_001114106,NM_001258343,NM_001258342,NM_152369 SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3 EXON Missense_C544R,Missense_C512R,Missense_C545R,Missense_C477R,Missense_C509R,Missense_C497R exm76753 1 95357952 [T/C] NM_001258340,NM_001258341,NM_001114106,NM_001258343,NM_001258342,NM_152369 SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3 EXON Missense_A578V,Missense_A546V,Missense_A579V,Missense_A511V,Missense_A543V,Missense_A531V exm76754 1 95358036 [T/C] NM_001258340,NM_001258341,NM_001114106,NM_001258343,NM_001258342,NM_152369 SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3 EXON Missense_S606L,Missense_S574L,Missense_S607L,Missense_S539L,Missense_S571L,Missense_S559L exm2273328 1 95363001 [T/C] NM_001839 CNN3 EXON Silent exm76760 1 95363359 [A/C] NM_001839 CNN3 EXON Missense_G310V exm76765 1 95363450 [A/C] NM_001839 CNN3 EXON Missense_V280F exm76783 1 95368998 [T/C] NM_001839 CNN3 EXON Missense_N47S exm76806 1 95530448 [A/G] NM_144988 ALG14 EXON Nonsense_R88X exm76808 1 95530528 [T/C] NM_144988 ALG14 EXON Missense_N61S exm76818 1 95538415 [T/C] NM_144988 ALG14 EXON Missense_V14M exm76819 1 95538424 [T/C] NM_144988 ALG14 EXON Missense_A11T exm76824 1 95609563 [C/G] NM_001199679,NM_152487,NM_001199691 TMEM56,TMEM56,TMEM56-RWDD3 EXON Missense_P36A,Missense_P36A,Missense_P36A exm76830 1 95615786 [A/G] NM_001199679,NM_152487,NM_001199691 TMEM56,TMEM56,TMEM56-RWDD3 EXON Missense_V90M,Missense_V90M,Missense_V90M exm-rs1414896 1 95692310 [A/G] NM_001199691 TMEM56-RWDD3 Silent exm76844 1 95699811 [T/C] NM_001199691,NR_037643,NM_001128142,NM_015485,NM_001199682 TMEM56-RWDD3,RWDD3,RWDD3,RWDD3,RWDD3 EXON Silent,Silent,Missense_L9F,Missense_L9F,Missense_L9F exm76846 1 95699829 [A/G] NM_001199691,NR_037643,NM_001128142,NM_015485,NM_001199682 TMEM56-RWDD3,RWDD3,RWDD3,RWDD3,RWDD3 EXON Silent,Silent,Missense_I15V,Missense_I15V,Missense_I15V exm76847 1 95699841 [T/C] NM_001199691,NR_037643,NM_001128142,NM_015485,NM_001199682 TMEM56-RWDD3,RWDD3,RWDD3,RWDD3,RWDD3 EXON Silent,Silent,Missense_P19S,Missense_P19S,Missense_P19S exm76855 1 95709780 [T/C] NM_001199691,NR_037643,NM_001128142,NM_015485,NM_001199682 TMEM56-RWDD3,RWDD3,RWDD3,RWDD3,RWDD3 EXON Missense_R194C,Silent,Synonymous_T33T,Synonymous_T33T,Synonymous_T33T exm76857 1 95709821 [T/C] NM_001199691,NR_037643,NM_001128142,NM_015485,NM_001199682 TMEM56-RWDD3,RWDD3,RWDD3,RWDD3,RWDD3 EXON Silent,Silent,Missense_V47A,Missense_V47A,Missense_V47A exm76862 1 95709939 [T/G] NM_001199691,NR_037643,NM_001128142,NM_015485,NM_001199682 TMEM56-RWDD3,RWDD3,RWDD3,RWDD3,RWDD3 EXON Silent,Silent,Missense_N86K,Missense_N86K,Missense_N86K exm76865 1 95710180 [A/G] NM_001199691,NR_037643,NM_001128142,NM_015485,NM_001199682 TMEM56-RWDD3,RWDD3,RWDD3,RWDD3,RWDD3 EXON Silent,Silent,Missense_R167G,Missense_R167G,Missense_R167G exm76869 1 95710231 [C/G] NM_001199691,NR_037643,NM_001128142,NM_015485,NM_001199682 TMEM56-RWDD3,RWDD3,RWDD3,RWDD3,RWDD3 EXON Silent,Silent,Missense_Q184E,Missense_Q184E,Silent exm2254070 1 95902901 [T/C] exm2268914 1 95966161 [T/C] exm-rs6693882 1 96145968 [A/G] exm2254080 1 96366808 [T/C] exm-rs1973993 1 96943994 [T/C] exm-rs1555543 1 96944797 [A/C] exm2265030 1 97016984 [A/G] exm-rs10783050 1 97037083 [T/C] exm2264875 1 97110940 [A/G] exm-rs7544736 1 97164343 [A/G] exm76890 1 97217055 [A/G] NM_021190 PTBP2 EXON Synonymous_T38T exm76928 1 97544543 [T/G] NM_000110 DPYD EXON Missense_P1023T exm76930 1 97544549 [G/C] NM_000110 DPYD EXON Missense_V1021L exm76933 1 97544612 [T/C] NM_000110 DPYD EXON Missense_D1000N exm76936 1 97544632 [A/C] NM_000110 DPYD EXON Missense_L993R exm76937 1 97544695 [T/C] NM_000110 DPYD EXON Missense_Q972R exm76940 1 97547947 [A/T] NM_000110 DPYD EXON Missense_D949V exm76952 1 97564154 [T/C] NM_000110,NR_046590 DPYD,DPYD-AS1 EXON Missense_R886H,Silent exm76953 1 97564155 [A/G] NM_000110,NR_046590 DPYD,DPYD-AS1 EXON Missense_R886C,Silent exm2254094 1 97681342 [T/C] NM_000110,NR_046590 DPYD,DPYD-AS1 Silent,Silent exm76962 1 97700526 [A/C] NM_000110,NR_046590 DPYD,DPYD-AS1 EXON Missense_L775W,Silent exm76966 1 97770919 [A/C] NM_000110,NR_046590 DPYD,DPYD-AS1 EXON Missense_V732G,Silent exm76967 1 97770920 [T/C] NM_000110,NR_046590 DPYD,DPYD-AS1 EXON Missense_V732I,Silent exm76971 1 97771751 [T/C] NM_000110,NR_046590 DPYD,DPYD-AS1 EXON Missense_A721T,Silent exm76973 1 97771825 [T/C] NM_000110,NR_046590 DPYD,DPYD-AS1 EXON Missense_R696H,Silent exm76976 1 97771841 [A/C] NM_000110,NR_046590 DPYD,DPYD-AS1 EXON Missense_V691L,Silent exm-rs11165846 1 97819667 [G/C] NM_000110 DPYD Silent exm76982 1 97848017 [T/G] NM_000110 DPYD EXON Missense_I636L exm76983 1 97915614 [T/C] NM_000110 DPYD Silent exm76984 1 97915615 [A/G] NM_000110 DPYD EXON Synonymous_N635N exm76986 1 97915655 [T/C] NM_000110 DPYD EXON Missense_C622Y exm2268730 1 97947883 [T/C] NM_000110 DPYD Silent exm76999 1 97981343 [A/C] NM_000110 DPYD EXON Missense_I560S exm77003 1 97981395 [T/C] NM_000110 DPYD EXON Missense_I543V exm77004 1 97981407 [T/C] NM_000110 DPYD EXON Missense_G539R exm77005 1 97981421 [T/C] NM_000110 DPYD EXON Missense_S534N exm77019 1 98015282 [C/G] NM_000110 DPYD EXON Missense_P453R exm77021 1 98015291 [A/G] NM_000110 DPYD EXON Missense_A450V exm77026 1 98039375 [A/G] NM_000110 DPYD EXON Missense_V427A exm77028 1 98039395 [T/A] NM_000110 DPYD EXON Missense_N420K exm77031 1 98039426 [T/C] NM_000110 DPYD EXON Missense_R410Q exm77032 1 98039437 [T/C] NM_000110 DPYD EXON Missense_M406I exm77038 1 98039526 [T/C] NM_000110 DPYD EXON Missense_M377V exm1956973 1 98058782 [A/G] NM_000110 DPYD EXON Missense_P374S exm77049 1 98060705 [T/C] NM_000110 DPYD EXON Missense_K290E exm77051 1 98144726 [T/C] NM_000110 DPYD EXON Missense_K259E exm77059 1 98165030 [T/C] NM_000110 DPYD EXON Missense_Y186C exm77065 1 98165091 [T/C] NM_000110 DPYD EXON Missense_M166V exm77072 1 98187098 [T/C] NM_000110,NM_001160301 DPYD,DPYD EXON Missense_N151D,Missense_N151D exm77084 1 98348885 [A/G] NM_000110,NM_001160301 DPYD,DPYD EXON Missense_R29C,Missense_R29C exm-rs1625579 1 98502934 [T/G] NR_046105 MIR137HG Silent exm2260898 1 98683104 [T/C] NR_046088 LOC729987 Silent exm2254121 1 98993058 [T/C] exm2254130 1 99150473 [T/C] NM_015976,NR_033716,NM_152238 SNX7,SNX7,SNX7 EXON Synonymous_S71S,Silent,Synonymous_S71S exm77103 1 99150610 [A/G] NM_015976,NR_033716,NM_152238 SNX7,SNX7,SNX7 EXON Missense_R117K,Silent,Missense_R117K exm77106 1 99156634 [A/T] NM_015976,NR_033716,NM_152238 SNX7,SNX7,SNX7 EXON Missense_S123T,Silent,Missense_S123T exm2234062 1 99161131 [A/G] NM_015976,NR_033716,NM_152238 SNX7,SNX7,SNX7 EXON Missense_V233I,Silent,Missense_V178I exm77120 1 99161184 [A/C] NM_015976,NR_033716,NM_152238 SNX7,SNX7,SNX7 EXON Missense_F250L,Silent,Missense_F195L exm77121 1 99161221 [A/G] NM_015976,NR_033716,NM_152238 SNX7,SNX7,SNX7 EXON Missense_K263E,Silent,Missense_K208E exm77126 1 99164378 [A/G] NM_015976,NR_033716,NM_152238 SNX7,SNX7,SNX7 EXON Missense_A319T,Silent,Missense_A264T exm77128 1 99164395 [A/G] NM_015976,NR_033716,NM_152238 SNX7,SNX7,SNX7 EXON Missense_M324I,Silent,Missense_M269I exm-rs9727115 1 99177253 [A/G] NM_015976,NR_033716,NM_152238 SNX7,SNX7,SNX7 Silent,Silent,Silent exm77133 1 99203835 [T/G] NM_015976,NR_033716,NM_152238 SNX7,SNX7,SNX7 EXON Missense_A390S,Silent,Missense_A335S exm77138 1 99225627 [A/G] NM_015976,NR_033716,NM_152238 SNX7,SNX7,SNX7 EXON Synonymous_E432E,Silent,Synonymous_E377E exm2254132 1 99225627 [A/G] NM_015976,NR_033716,NM_152238 SNX7,SNX7,SNX7 EXON Synonymous_E432E,Silent,Synonymous_E377E exm1958579 1 99387446 [T/C] NM_001037317,NM_001010861 LPPR5,LPPR5 EXON Missense_V264I,Missense_V264I exm77164 1 99422194 [A/G] NM_001037317,NM_001010861 LPPR5,LPPR5 EXON Missense_P114L,Missense_P114L exm2268732 1 99691732 [T/C] exm77203 1 99762301 [T/C] NM_014839,NM_001166252 LPPR4,LPPR4 EXON Missense_V139A,Missense_V139A exm77204 1 99762420 [A/G] NM_014839,NM_001166252 LPPR4,LPPR4 EXON Missense_V179I,Missense_V179I exm77206 1 99764770 [A/G] NM_014839,NM_001166252 LPPR4,LPPR4 EXON Missense_V240I,Missense_V240I exm77216 1 99771308 [C/G] NM_014839,NM_001166252 LPPR4,LPPR4 EXON Missense_R345T,Missense_R287T exm77253 1 99772492 [A/G] NM_014839,NM_001166252 LPPR4,LPPR4 EXON Missense_R740G,Missense_R682G exm2268916 1 99871756 [T/C] exm-rs7543130 1 100049785 [A/C] exm77264 1 100133249 [C/G] NM_017734 PALMD EXON Missense_E60Q exm77266 1 100133290 [A/C] NM_017734 PALMD EXON Missense_H73Q exm77274 1 100152300 [T/C] NM_017734 PALMD EXON Missense_L107S exm77277 1 100152345 [C/G] NM_017734 PALMD EXON Missense_R122T exm1689650 1 100152489 [A/G] NM_017734 PALMD EXON Missense_V124M exm77288 1 100154373 [T/C] NM_017734 PALMD EXON Missense_T186I exm77294 1 100154502 [A/G] NM_017734 PALMD EXON Missense_N229S exm77295 1 100154510 [A/G] NM_017734 PALMD EXON Missense_D232N exm77303 1 100154643 [T/C] NM_017734,NR_037516,NR_030382 PALMD,MIR548AA1,MIR548D1 EXON Missense_T276M,Silent,Silent exm77307 1 100154765 [T/C] NM_017734,NR_037516,NR_030382 PALMD,MIR548AA1,MIR548D1 EXON Missense_F317L,Silent,Silent exm77308 1 100154778 [T/G] NM_017734,NR_037516,NR_030382 PALMD,MIR548AA1,MIR548D1 EXON Missense_S321I,Silent,Silent exm77319 1 100155012 [T/C] NM_017734,NR_037516,NR_030382 PALMD,MIR548AA1,MIR548D1 EXON Missense_I399T,Silent,Silent exm77322 1 100155051 [C/G] NM_017734,NR_037516,NR_030382 PALMD,MIR548AA1,MIR548D1 EXON Missense_P412R,Silent,Silent exm77332 1 100155193 [T/G] NM_017734,NR_037516,NR_030382 PALMD,MIR548AA1,MIR548D1 EXON Missense_E459D,Silent,Silent exm77341 1 100155359 [A/G] NM_017734,NR_037516,NR_030382 PALMD,MIR548AA1,MIR548D1 EXON Missense_S515G,Silent,Silent exm77343 1 100155386 [A/G] NM_017734,NR_037516,NR_030382 PALMD,MIR548AA1,MIR548D1 EXON Missense_A524T,Silent,Silent exm77345 1 100155425 [A/G] NM_017734,NR_037516,NR_030382 PALMD,MIR548AA1,MIR548D1 EXON Missense_T537A,Silent,Silent exm1689665 1 100174455 [T/C] NR_037516,NR_030382,NM_001013660 MIR548AA1,MIR548D1,FRRS1 EXON Silent,Silent,Missense_X627W exm77357 1 100174670 [T/C] NR_037516,NR_030382,NM_001013660 MIR548AA1,MIR548D1,FRRS1 EXON Silent,Silent,Missense_M555I exm77359 1 100176431 [T/C] NR_037516,NR_030382,NM_001013660 MIR548AA1,MIR548D1,FRRS1 EXON Silent,Silent,Missense_G519R exm77366 1 100177699 [A/G] NR_037516,NR_030382,NM_001013660 MIR548AA1,MIR548D1,FRRS1 EXON Silent,Silent,Missense_T481I exm77371 1 100178020 [T/G] NR_037516,NR_030382,NM_001013660 MIR548AA1,MIR548D1,FRRS1 EXON Silent,Silent,Missense_L459I exm77384 1 100182997 [C/G] NM_001013660 FRRS1 EXON Missense_A402G exm77386 1 100183072 [A/G] NM_001013660 FRRS1 EXON Missense_M377T exm77394 1 100194126 [T/G] NM_001013660 FRRS1 EXON Missense_T310N exm77395 1 100194151 [T/G] NM_001013660 FRRS1 EXON Missense_Q302K exm77401 1 100195206 [T/C] NM_001013660 FRRS1 EXON Synonymous_R286R exm77403 1 100195231 [T/C] NM_001013660 FRRS1 EXON Missense_R278Q exm77404 1 100195237 [A/G] NM_001013660 FRRS1 EXON Missense_T276M exm2249462 1 100203648 [T/C] NM_001013660 FRRS1 EXON Synonymous_Q251Q exm77424 1 100206478 [A/C] NM_001013660 FRRS1 EXON Missense_K149N exm2230631 1 100207765 [A/G] NM_001013660 FRRS1 EXON Missense_P133L exm77431 1 100212920 [T/C] NM_001013660 FRRS1 EXON Missense_G88D exm77435 1 100214192 [A/T] NM_001013660 FRRS1 EXON Missense_S45T exm77437 1 100214243 [T/C] NM_001013660 FRRS1 EXON Missense_V28I exm77441 1 100214289 [T/C] NM_001013660 FRRS1 EXON Missense_I12M exm77444 1 100316589 [A/G] NM_000642,NM_000644,NM_000028,NM_000643,NM_000646 AGL,AGL,AGL,AGL,AGL EXON Silent,Silent,Silent,Silent,Silent exm77452 1 100318245 [T/G] NM_000642,NM_000644,NM_000028,NM_000643,NM_000646 AGL,AGL,AGL,AGL,AGL EXON Silent,Silent,Silent,Silent,Missense_I7S exm77457 1 100327088 [A/G] NM_000642,NM_000644,NM_000028,NM_000643,NM_000646,NM_000645 AGL,AGL,AGL,AGL,AGL,AGL EXON Missense_T38A,Missense_T38A,Missense_T38A,Missense_T38A,Missense_T22A,Missense_T21A exm77462 1 100327200 [A/G] NM_000642,NM_000644,NM_000028,NM_000643,NM_000646,NM_000645 AGL,AGL,AGL,AGL,AGL,AGL EXON Missense_D75G,Missense_D75G,Missense_D75G,Missense_D75G,Missense_D59G,Missense_D58G exm77467 1 100327860 [A/G] NM_000642,NM_000644,NM_000028,NM_000643,NM_000646,NM_000645 AGL,AGL,AGL,AGL,AGL,AGL EXON Missense_R114H,Missense_R114H,Missense_R114H,Missense_R114H,Missense_R98H,Missense_R97H exm77473 1 100329942 [A/G] NM_000642,NM_000644,NM_000028,NM_000643,NM_000646,NM_000645 AGL,AGL,AGL,AGL,AGL,AGL EXON Missense_G154D,Missense_G154D,Missense_G154D,Missense_G154D,Missense_G138D,Missense_G137D exm77474 1 100330103 [T/C] NM_000642,NM_000644,NM_000028,NM_000643,NM_000646,NM_000645 AGL,AGL,AGL,AGL,AGL,AGL EXON Missense_W208R,Missense_W208R,Missense_W208R,Missense_W208R,Missense_W192R,Missense_W191R exm77479 1 100335977 [A/G] NM_000642,NM_000644,NM_000028,NM_000643,NM_000646,NM_000645 AGL,AGL,AGL,AGL,AGL,AGL EXON Missense_Q229R,Missense_Q229R,Missense_Q229R,Missense_Q229R,Missense_Q213R,Missense_Q212R exm77480 1 100336058 [A/G] NM_000642,NM_000644,NM_000028,NM_000643,NM_000646,NM_000645 AGL,AGL,AGL,AGL,AGL,AGL EXON Missense_R256H,Missense_R256H,Missense_R256H,Missense_R256H,Missense_R240H,Missense_R239H exm77495 1 100340252 [A/G] NM_000642,NM_000644,NM_000028,NM_000643,NM_000646,NM_000645 AGL,AGL,AGL,AGL,AGL,AGL EXON Missense_R323Q,Missense_R323Q,Missense_R323Q,Missense_R323Q,Missense_R307Q,Missense_R306Q exm77498 1 100340312 [A/G] NM_000642,NM_000644,NM_000028,NM_000643,NM_000646,NM_000645 AGL,AGL,AGL,AGL,AGL,AGL EXON Missense_R343Q,Missense_R343Q,Missense_R343Q,Missense_R343Q,Missense_R327Q,Missense_R326Q exm77501 1 100340782 [T/G] NM_000642,NM_000644,NM_000028,NM_000643,NM_000646,NM_000645 AGL,AGL,AGL,AGL,AGL,AGL EXON Missense_K385N,Missense_K385N,Missense_K385N,Missense_K385N,Missense_K369N,Missense_K368N exm77503 1 100340787 [A/G] NM_000642,NM_000644,NM_000028,NM_000643,NM_000646,NM_000645 AGL,AGL,AGL,AGL,AGL,AGL EXON Missense_R387Q,Missense_R387Q,Missense_R387Q,Missense_R387Q,Missense_R371Q,Missense_R370Q exm77507 1 100340989 [A/G] NM_000642,NM_000644,NM_000028,NM_000643,NM_000646,NM_000645 AGL,AGL,AGL,AGL,AGL,AGL EXON Missense_R421G,Missense_R421G,Missense_R421G,Missense_R421G,Missense_R405G,Missense_R404G exm77508 1 100342049 [T/C] NM_000642,NM_000644,NM_000028,NM_000643,NM_000646,NM_000645 AGL,AGL,AGL,AGL,AGL,AGL EXON Missense_S440F,Missense_S440F,Missense_S440F,Missense_S440F,Missense_S424F,Missense_S423F exm77514 1 100342152 [A/G] NM_000642,NM_000644,NM_000028,NM_000643,NM_000646,NM_000645 AGL,AGL,AGL,AGL,AGL,AGL EXON Synonymous_P474P,Synonymous_P474P,Synonymous_P474P,Synonymous_P474P,Synonymous_P458P,Synonymous_P457P exm77522 1 100343254 [A/G] NM_000642,NM_000644,NM_000028,NM_000643,NM_000646,NM_000645 AGL,AGL,AGL,AGL,AGL,AGL EXON Missense_R494H,Missense_R494H,Missense_R494H,Missense_R494H,Missense_R478H,Missense_R477H exm77524 1 100343310 [A/T] NM_000642,NM_000644,NM_000028,NM_000643,NM_000646,NM_000645 AGL,AGL,AGL,AGL,AGL,AGL EXON Missense_T513S,Missense_T513S,Missense_T513S,Missense_T513S,Missense_T497S,Missense_T496S exm77528 1 100346211 [T/C] NM_000642,NM_000644,NM_000028,NM_000643,NM_000646,NM_000645 AGL,AGL,AGL,AGL,AGL,AGL EXON Missense_H587Y,Missense_H587Y,Missense_H587Y,Missense_H587Y,Missense_H571Y,Missense_H570Y exm77531 1 100346262 [T/G] NM_000642,NM_000644,NM_000028,NM_000643,NM_000646,NM_000645 AGL,AGL,AGL,AGL,AGL,AGL EXON Missense_F604V,Missense_F604V,Missense_F604V,Missense_F604V,Missense_F588V,Missense_F587V exm77535 1 100346337 [A/G] NM_000642,NM_000644,NM_000028,NM_000643,NM_000646,NM_000645 AGL,AGL,AGL,AGL,AGL,AGL EXON Missense_E629K,Missense_E629K,Missense_E629K,Missense_E629K,Missense_E613K,Missense_E612K exm1689728 1 100346633 [T/A] NM_000642,NM_000644,NM_000028,NM_000643,NM_000646,NM_000645 AGL,AGL,AGL,AGL,AGL,AGL EXON Missense_H634L,Missense_H634L,Missense_H634L,Missense_H634L,Missense_H618L,Missense_H617L exm2249463 1 100346934 [T/C] NM_000642,NM_000644,NM_000028,NM_000643,NM_000646,NM_000645 AGL,AGL,AGL,AGL,AGL,AGL EXON Synonymous_S696S,Synonymous_S696S,Synonymous_S696S,Synonymous_S696S,Synonymous_S680S,Synonymous_S679S exm77549 1 100347187 [T/G] NM_000642,NM_000644,NM_000028,NM_000643,NM_000646,NM_000645 AGL,AGL,AGL,AGL,AGL,AGL EXON Missense_A750S,Missense_A750S,Missense_A750S,Missense_A750S,Missense_A734S,Missense_A733S exm77551 1 100347247 [C/G] NM_000642,NM_000644,NM_000028,NM_000643,NM_000646,NM_000645 AGL,AGL,AGL,AGL,AGL,AGL EXON Missense_G770R,Missense_G770R,Missense_G770R,Missense_G770R,Missense_G754R,Missense_G753R exm77555 1 100349757 [A/G] NM_000642,NM_000644,NM_000028,NM_000643,NM_000646,NM_000645 AGL,AGL,AGL,AGL,AGL,AGL EXON Missense_N797S,Missense_N797S,Missense_N797S,Missense_N797S,Missense_N781S,Missense_N780S exm77559 1 100349983 [T/C] NM_000642,NM_000644,NM_000028,NM_000643,NM_000646,NM_000645 AGL,AGL,AGL,AGL,AGL,AGL EXON Missense_S841F,Missense_S841F,Missense_S841F,Missense_S841F,Missense_S825F,Missense_S824F exm77568 1 100356777 [T/G] NM_000642,NM_000644,NM_000028,NM_000643,NM_000646,NM_000645 AGL,AGL,AGL,AGL,AGL,AGL EXON Synonymous_G938G,Synonymous_G938G,Synonymous_G938G,Synonymous_G938G,Synonymous_G922G,Synonymous_G921G exm77572 1 100356904 [A/G] NM_000642,NM_000644,NM_000028,NM_000643,NM_000646,NM_000645 AGL,AGL,AGL,AGL,AGL,AGL EXON Missense_I981V,Missense_I981V,Missense_I981V,Missense_I981V,Missense_I965V,Missense_I964V exm77575 1 100357238 [T/C] NM_000642,NM_000644,NM_000028,NM_000643,NM_000646,NM_000645 AGL,AGL,AGL,AGL,AGL,AGL EXON Missense_A1009V,Missense_A1009V,Missense_A1009V,Missense_A1009V,Missense_A993V,Missense_A992V exm77579 1 100358103 [T/C] NM_000642,NM_000644,NM_000028,NM_000643,NM_000646,NM_000645 AGL,AGL,AGL,AGL,AGL,AGL EXON Missense_P1067S,Missense_P1067S,Missense_P1067S,Missense_P1067S,Missense_P1051S,Missense_P1050S exm77580 1 100358107 [A/G] NM_000642,NM_000644,NM_000028,NM_000643,NM_000646,NM_000645 AGL,AGL,AGL,AGL,AGL,AGL EXON Missense_Y1068C,Missense_Y1068C,Missense_Y1068C,Missense_Y1068C,Missense_Y1052C,Missense_Y1051C exm77602 1 100368269 [A/G] NM_000642,NM_000644,NM_000028,NM_000643,NM_000646,NM_000645 AGL,AGL,AGL,AGL,AGL,AGL EXON Missense_A1207T,Missense_A1207T,Missense_A1207T,Missense_A1207T,Missense_A1191T,Missense_A1190T exm1689759 1 100368318 [A/G] NM_000642,NM_000644,NM_000028,NM_000643,NM_000646,NM_000645 AGL,AGL,AGL,AGL,AGL,AGL EXON Missense_G1223D,Missense_G1223D,Missense_G1223D,Missense_G1223D,Missense_G1207D,Missense_G1206D exm77609 1 100376325 [A/G] NM_000642,NM_000644,NM_000028,NM_000643,NM_000646,NM_000645 AGL,AGL,AGL,AGL,AGL,AGL EXON Missense_R1253H,Missense_R1253H,Missense_R1253H,Missense_R1253H,Missense_R1237H,Missense_R1236H exm77610 1 100376331 [A/G] NM_000642,NM_000644,NM_000028,NM_000643,NM_000646,NM_000645 AGL,AGL,AGL,AGL,AGL,AGL EXON Missense_N1255S,Missense_N1255S,Missense_N1255S,Missense_N1255S,Missense_N1239S,Missense_N1238S exm2249464 1 100376448 [A/G] NM_000642,NM_000644,NM_000028,NM_000643,NM_000646,NM_000645 AGL,AGL,AGL,AGL,AGL,AGL Silent,Silent,Silent,Silent,Silent,Silent exm77620 1 100378008 [A/G] NM_000642,NM_000644,NM_000028,NM_000643,NM_000646,NM_000645 AGL,AGL,AGL,AGL,AGL,AGL EXON Missense_R1295H,Missense_R1295H,Missense_R1295H,Missense_R1295H,Missense_R1279H,Missense_R1278H exm77624 1 100379160 [A/G] NM_000642,NM_000644,NM_000028,NM_000643,NM_000646,NM_000645 AGL,AGL,AGL,AGL,AGL,AGL EXON Missense_E1343K,Missense_E1343K,Missense_E1343K,Missense_E1343K,Missense_E1327K,Missense_E1326K exm77625 1 100379185 [A/G] NM_000642,NM_000644,NM_000028,NM_000643,NM_000646,NM_000645 AGL,AGL,AGL,AGL,AGL,AGL EXON Missense_K1351R,Missense_K1351R,Missense_K1351R,Missense_K1351R,Missense_K1335R,Missense_K1334R exm77627 1 100379209 [A/G] NM_000642,NM_000644,NM_000028,NM_000643,NM_000646,NM_000645 AGL,AGL,AGL,AGL,AGL,AGL EXON Missense_R1359H,Missense_R1359H,Missense_R1359H,Missense_R1359H,Missense_R1343H,Missense_R1342H exm77630 1 100380997 [A/G] NM_000642,NM_000644,NM_000028,NM_000643,NM_000646,NM_000645 AGL,AGL,AGL,AGL,AGL,AGL EXON Missense_E1405G,Missense_E1405G,Missense_E1405G,Missense_E1405G,Missense_E1389G,Missense_E1388G exm77633 1 100381989 [A/C] NM_000642,NM_000644,NM_000028,NM_000643,NM_000646,NM_000645 AGL,AGL,AGL,AGL,AGL,AGL EXON Missense_Y1428S,Missense_Y1428S,Missense_Y1428S,Missense_Y1428S,Missense_Y1412S,Missense_Y1411S exm77634 1 100382006 [A/G] NM_000642,NM_000644,NM_000028,NM_000643,NM_000646,NM_000645 AGL,AGL,AGL,AGL,AGL,AGL EXON Missense_N1434D,Missense_N1434D,Missense_N1434D,Missense_N1434D,Missense_N1418D,Missense_N1417D exm77636 1 100382037 [A/G] NM_000642,NM_000644,NM_000028,NM_000643,NM_000646,NM_000645 AGL,AGL,AGL,AGL,AGL,AGL EXON Missense_N1444S,Missense_N1444S,Missense_N1444S,Missense_N1444S,Missense_N1428S,Missense_N1427S exm77644 1 100382236 [G/C] NM_000642,NM_000644,NM_000028,NM_000643,NM_000646,NM_000645 AGL,AGL,AGL,AGL,AGL,AGL EXON Missense_T1477S,Missense_T1477S,Missense_T1477S,Missense_T1477S,Missense_T1461S,Missense_T1460S exm77645 1 100382256 [A/G] NM_000642,NM_000644,NM_000028,NM_000643,NM_000646,NM_000645 AGL,AGL,AGL,AGL,AGL,AGL EXON Missense_V1484I,Missense_V1484I,Missense_V1484I,Missense_V1484I,Missense_V1468I,Missense_V1467I exm77659 1 100459132 [A/G] NM_001271684,NM_012243,NM_001271685 SLC35A3,SLC35A3,SLC35A3 EXON Missense_V8I,Missense_V8I,Missense_V50I exm77671 1 100476986 [C/G] NM_001271684,NM_012243,NM_001271685 SLC35A3,SLC35A3,SLC35A3 EXON Missense_M177I,Missense_M177I,Missense_M219I exm77711 1 100534070 [C/G] NM_033055 HIAT1 EXON Missense_I249M exm77729 1 100546162 [A/G] NM_033055 HIAT1 EXON Missense_I405V exm2273329 1 100547994 [T/C] NM_033055 HIAT1 EXON Silent exm1689824 1 100550937 [T/C] NM_194292 SASS6 EXON Missense_A641T exm77749 1 100568614 [G/C] NM_194292 SASS6 EXON Missense_T524S exm77771 1 100575930 [A/G] NM_194292 SASS6 EXON Missense_A260V exm77773 1 100575933 [A/G] NM_194292 SASS6 EXON Missense_A259V exm77774 1 100575941 [C/G] NM_194292 SASS6 EXON Missense_E256D exm77778 1 100576012 [T/C] NM_194292 SASS6 EXON Missense_E233K exm77782 1 100584647 [T/C] NM_194292 SASS6 EXON Nonsense_W199X exm77783 1 100584665 [T/C] NM_194292 SASS6 EXON Missense_D193G exm77792 1 100587105 [C/G] NM_194292 SASS6 EXON Missense_R104S exm77816 1 100598738 [T/C] NM_019083 TRMT13 EXON Missense_A5V exm77817 1 100598740 [T/A] NM_019083 TRMT13 EXON Missense_T6S exm77818 1 100598744 [T/C] NM_019083 TRMT13 EXON Missense_S7L exm77822 1 100598866 [A/G] NM_019083 TRMT13 EXON Missense_A48T exm77823 1 100598867 [T/C] NM_019083 TRMT13 EXON Missense_A48V exm77830 1 100602575 [T/C] NM_019083 TRMT13 EXON Synonymous_H65H exm77839 1 100606023 [A/G] NM_019083 TRMT13 EXON Missense_N152D exm77843 1 100606444 [A/C] NM_019083 TRMT13 EXON Missense_L180I exm77873 1 100614629 [T/G] NM_019083,NM_001256387,NM_001256385,NM_001256386,NM_144620 TRMT13,LRRC39,LRRC39,LRRC39,LRRC39 EXON Silent,Missense_T326N,Silent,Missense_T326N,Missense_T326N exm1689894 1 100617941 [T/C] NM_001256387,NM_001256385,NM_001256386,NM_144620 LRRC39,LRRC39,LRRC39,LRRC39 EXON Missense_D318N,Missense_A318T,Missense_D318N,Missense_D318N exm77881 1 100617998 [T/C] NM_001256387,NM_001256385,NM_001256386,NM_144620 LRRC39,LRRC39,LRRC39,LRRC39 EXON Missense_E299K,Missense_E299K,Missense_E299K,Missense_E299K exm2249465 1 100618020 [A/G] NM_001256387,NM_001256385,NM_001256386,NM_144620 LRRC39,LRRC39,LRRC39,LRRC39 EXON Synonymous_G291G,Synonymous_G291G,Synonymous_G291G,Synonymous_G291G exm77887 1 100620637 [T/G] NM_001256387,NM_001256385,NM_001256386,NM_144620 LRRC39,LRRC39,LRRC39,LRRC39 EXON Missense_P261Q,Missense_P261Q,Missense_P261Q,Missense_P261Q exm77890 1 100620713 [T/A] NM_001256387,NM_001256385,NM_001256386,NM_144620 LRRC39,LRRC39,LRRC39,LRRC39 EXON Missense_C236S,Missense_C236S,Missense_C236S,Missense_C236S exm77892 1 100620727 [T/C] NM_001256387,NM_001256385,NM_001256386,NM_144620 LRRC39,LRRC39,LRRC39,LRRC39 EXON Missense_R231Q,Missense_R231Q,Missense_R231Q,Missense_R231Q exm77893 1 100620728 [A/G] NM_001256387,NM_001256385,NM_001256386,NM_144620 LRRC39,LRRC39,LRRC39,LRRC39 EXON Nonsense_R231X,Nonsense_R231X,Nonsense_R231X,Nonsense_R231X exm77896 1 100621762 [T/G] NM_001256387,NM_001256385,NM_001256386,NM_144620 LRRC39,LRRC39,LRRC39,LRRC39 EXON Missense_N209H,Missense_N209H,Missense_N209H,Missense_N209H exm77906 1 100623806 [A/G] NM_001256387,NM_001256385,NM_001256386,NM_144620 LRRC39,LRRC39,LRRC39,LRRC39 EXON Missense_I165T,Missense_I165T,Missense_I165T,Missense_I165T exm77909 1 100623863 [T/C] NM_001256387,NM_001256385,NM_001256386,NM_144620 LRRC39,LRRC39,LRRC39,LRRC39 EXON Missense_K146R,Missense_K146R,Missense_K146R,Missense_K146R exm77912 1 100623922 [T/C] NM_001256387,NM_001256385,NM_001256386,NM_144620 LRRC39,LRRC39,LRRC39,LRRC39 EXON Synonymous_G126G,Synonymous_G126G,Synonymous_G126G,Synonymous_G126G exm77913 1 100624830 [A/T] NM_001256387,NM_001256385,NM_001256386,NM_144620 LRRC39,LRRC39,LRRC39,LRRC39 EXON Missense_I121L,Missense_I121L,Missense_I121L,Missense_I121L exm77916 1 100624886 [A/G] NM_001256387,NM_001256385,NM_001256386,NM_144620 LRRC39,LRRC39,LRRC39,LRRC39 EXON Missense_I102T,Missense_I102T,Missense_I102T,Missense_I102T exm77918 1 100624961 [A/G] NM_001256387,NM_001256385,NM_001256386,NM_144620 LRRC39,LRRC39,LRRC39,LRRC39 EXON Missense_S77F,Missense_S77F,Missense_S77F,Missense_S77F exm77919 1 100626027 [T/A] NM_001256387,NM_001256385,NM_001256386,NM_144620 LRRC39,LRRC39,LRRC39,LRRC39 EXON Missense_W72R,Missense_W72R,Missense_W72R,Missense_W72R exm77924 1 100626119 [T/C] NM_001256387,NM_001256385,NM_001256386,NM_144620 LRRC39,LRRC39,LRRC39,LRRC39 EXON Missense_R41Q,Missense_R41Q,Missense_R41Q,Missense_R41Q exm77925 1 100626120 [A/G] NM_001256387,NM_001256385,NM_001256386,NM_144620 LRRC39,LRRC39,LRRC39,LRRC39 EXON Missense_R41W,Missense_R41W,Missense_R41W,Missense_R41W exm77936 1 100661842 [T/C] NM_001918 DBT EXON Missense_N473S exm77949 1 100672060 [T/C] NM_001918 DBT EXON Missense_S384G exm77954 1 100676303 [A/G] NM_001918 DBT EXON Missense_F322L exm77956 1 100680411 [A/G] NM_001918 DBT EXON Missense_R301C exm77959 1 100680485 [A/C] NM_001918 DBT EXON Missense_F276C exm77964 1 100681587 [A/G] NM_001918 DBT EXON Missense_S242P exm77966 1 100681596 [T/C] NM_001918 DBT EXON Missense_I239V exm77967 1 100681641 [A/C] NM_001918 DBT EXON Nonsense_E224X exm77972 1 100684204 [T/C] NM_001918 DBT EXON Missense_R178H exm77973 1 100684231 [T/C] NM_001918 DBT EXON Missense_R169Q exm77985 1 100706416 [A/G] NM_001918 DBT EXON Missense_C26R exm1689926 1 100715340 [T/C] NM_001918 DBT EXON Missense_N13D exm77992 1 100731968 [A/G] NM_003729,NM_001130841 RTCA,RTCA EXON Missense_M13V,Missense_M13V exm78007 1 100733845 [T/C] NM_003729,NM_001130841 RTCA,RTCA EXON Missense_T95I,Missense_T108I exm78016 1 100738983 [A/G] NM_003729,NM_001130841 RTCA,RTCA EXON Missense_I150V,Missense_I163V exm78023 1 100740449 [A/G] NM_003729,NM_001130841 RTCA,RTCA EXON Missense_I181M,Missense_I194M exm78026 1 100740475 [T/C] NM_003729,NM_001130841 RTCA,RTCA EXON Missense_T190I,Missense_T203I exm2249466 1 100740485 [T/C] NM_003729,NM_001130841 RTCA,RTCA EXON Synonymous_Y193Y,Synonymous_Y206Y exm78028 1 100740505 [G/C] NM_003729,NM_001130841 RTCA,RTCA EXON Missense_G200A,Missense_G213A exm78031 1 100741162 [A/G] NM_003729,NM_001130841 RTCA,RTCA EXON Missense_K208R,Missense_K221R exm78058 1 100756991 [A/T] NM_003729,NM_001130841 RTCA,RTCA EXON Missense_E344D,Missense_E357D exm78060 1 100757001 [A/G] NM_003729,NM_001130841 RTCA,RTCA EXON Missense_A348T,Missense_A361T exm2268917 1 100771636 [T/C] exm78067 1 100818541 [A/G] NM_033312,NM_003672,NM_033313 CDC14A,CDC14A,CDC14A EXON Missense_A11T,Missense_A11T,Missense_A11T exm2230643 1 100819366 [A/G] NM_033312,NM_003672,NM_033313 CDC14A,CDC14A,CDC14A EXON Missense_N33S,Missense_N33S,Missense_N33S exm78079 1 100856373 [G/C] NM_033312,NM_003672,NM_033313 CDC14A,CDC14A,CDC14A EXON Missense_A101G,Missense_A101G,Missense_A101G exm78081 1 100856380 [A/C] NM_033312,NM_003672,NM_033313 CDC14A,CDC14A,CDC14A EXON Synonymous_A103A,Synonymous_A103A,Synonymous_A103A exm2273666 1 100889838 [A/C] NM_033312,NM_003672,NM_033313 CDC14A,CDC14A,CDC14A EXON Missense_P124T,Missense_P124T,Missense_P124T exm78100 1 100928377 [A/G] NM_033312,NM_003672,NM_033313 CDC14A,CDC14A,CDC14A EXON Missense_V260M,Missense_V260M,Missense_V260M exm78105 1 100928410 [A/G] NM_033312,NM_003672,NM_033313 CDC14A,CDC14A,CDC14A EXON Missense_E271K,Missense_E271K,Missense_E271K exm78120 1 100949904 [A/G] NM_033312,NM_003672,NM_033313 CDC14A,CDC14A,CDC14A EXON Missense_R345Q,Missense_R345Q,Missense_R345Q exm78122 1 100949960 [A/G] NM_033312,NM_003672,NM_033313 CDC14A,CDC14A,CDC14A EXON Missense_I364V,Missense_I364V,Missense_I364V exm78141 1 100964667 [A/G] NM_033312,NM_003672 CDC14A,CDC14A EXON Missense_Q535R,Missense_Q535R exm78142 1 100964703 [T/G] NM_033312,NM_003672 CDC14A,CDC14A EXON Missense_L547R,Missense_L547R exm78149 1 100964774 [A/G] NM_033312,NM_003672 CDC14A,CDC14A EXON Missense_G571R,Missense_G571R exm1689974 1 100964808 [A/G] NM_033312,NM_003672 CDC14A,CDC14A EXON Missense_R582H,Missense_R582H exm78151 1 100964826 [T/C] NM_033312,NM_003672 CDC14A,CDC14A EXON Missense_A588V,Silent exm1689975 1 100964928 [G/C] NM_033312,NM_003672 CDC14A,CDC14A EXON Missense_A622G,Silent exm2230645 1 100983817 [T/C] NM_003672 CDC14A EXON Missense_S589F exm78172 1 101005175 [T/G] NM_022049 GPR88 EXON Missense_R218L exm78182 1 101185447 [A/G] NM_001078,NM_001199834,NM_080682 VCAM1,VCAM1,VCAM1 EXON Missense_A11T,Missense_A11T,Missense_A11T exm78215 1 101194687 [T/C] NM_001078,NM_001199834,NM_080682 VCAM1,VCAM1,VCAM1 EXON Missense_S318F,Missense_S256F,Silent exm78224 1 101194884 [A/G] NM_001078,NM_001199834,NM_080682 VCAM1,VCAM1,VCAM1 EXON Missense_T384A,Missense_T322A,Silent exm78227 1 101196787 [G/C] NM_001078,NM_001199834,NM_080682 VCAM1,VCAM1,VCAM1 EXON Missense_G413A,Missense_G351A,Missense_G321A exm78238 1 101197012 [A/G] NM_001078,NM_001199834,NM_080682 VCAM1,VCAM1,VCAM1 EXON Missense_H488R,Missense_H426R,Missense_H396R exm78246 1 101198105 [A/G] NM_001078,NM_001199834,NM_080682 VCAM1,VCAM1,VCAM1 EXON Missense_G553R,Missense_G491R,Missense_G461R exm78247 1 101198111 [G/C] NM_001078,NM_001199834,NM_080682 VCAM1,VCAM1,VCAM1 EXON Missense_L555V,Missense_L493V,Missense_L463V exm78255 1 101200146 [A/T] NM_001078,NM_001199834,NM_080682 VCAM1,VCAM1,VCAM1 EXON Missense_N627K,Missense_N565K,Missense_N535K exm78258 1 101200219 [A/G] NM_001078,NM_001199834,NM_080682 VCAM1,VCAM1,VCAM1 EXON Missense_A652T,Missense_A590T,Missense_A560T exm78264 1 101203691 [A/G] NM_001078,NM_001199834,NM_080682 VCAM1,VCAM1,VCAM1 EXON Missense_N691S,Missense_N629S,Missense_N599S exm78269 1 101203765 [T/A] NM_001078,NM_001199834,NM_080682 VCAM1,VCAM1,VCAM1 EXON Missense_I716L,Missense_I654L,Missense_I624L exm78281 1 101339635 [A/G] NM_001261441,NM_001261440,NM_001439,NM_001261442,NM_001033025,NR_048570 EXTL2,EXTL2,EXTL2,EXTL2,EXTL2,EXTL2 EXON Nonsense_R294X,Nonsense_R285X,Nonsense_R286X,Silent,Nonsense_R286X,Silent exm78284 1 101339737 [T/C] NM_001261441,NM_001261440,NM_001439,NM_001261442,NM_001033025,NR_048570 EXTL2,EXTL2,EXTL2,EXTL2,EXTL2,EXTL2 EXON Missense_I260V,Missense_I251V,Missense_I252V,Silent,Missense_I252V,Silent exm78286 1 101339776 [A/C] NM_001261441,NM_001261440,NM_001439,NM_001261442,NM_001033025,NR_048570 EXTL2,EXTL2,EXTL2,EXTL2,EXTL2,EXTL2 EXON Missense_D247Y,Missense_D238Y,Missense_D239Y,Silent,Missense_D239Y,Silent exm78289 1 101339787 [A/G] NM_001261441,NM_001261440,NM_001439,NM_001261442,NM_001033025,NR_048570 EXTL2,EXTL2,EXTL2,EXTL2,EXTL2,EXTL2 EXON Missense_A243V,Missense_A234V,Missense_A235V,Silent,Missense_A235V,Silent exm78292 1 101339863 [T/C] NM_001261441,NM_001261440,NM_001439,NM_001261442,NM_001033025,NR_048570 EXTL2,EXTL2,EXTL2,EXTL2,EXTL2,EXTL2 EXON Missense_M218V,Missense_M209V,Missense_M210V,Silent,Missense_M210V,Silent exm78294 1 101339977 [T/C] NM_001261441,NM_001261440,NM_001439,NM_001261442,NM_001033025,NR_048570 EXTL2,EXTL2,EXTL2,EXTL2,EXTL2,EXTL2 EXON Missense_D180N,Missense_D171N,Missense_D172N,Synonymous_X148X,Missense_D172N,Silent exm78302 1 101343250 [A/G] NM_001261441,NM_001261440,NM_001439,NM_001261442,NM_001033025,NR_048570 EXTL2,EXTL2,EXTL2,EXTL2,EXTL2,EXTL2 EXON Missense_T80M,Missense_T72M,Missense_T72M,Missense_T72M,Missense_T72M,Silent exm1690021 1 101343310 [T/C] NM_001261441,NM_001261440,NM_001439,NM_001261442,NM_001033025,NR_048570 EXTL2,EXTL2,EXTL2,EXTL2,EXTL2,EXTL2 EXON Missense_R60H,Missense_R52H,Missense_R52H,Missense_R52H,Missense_R52H,Silent exm78306 1 101343422 [G/C] NM_001261441,NM_001261440,NM_001439,NM_001261442,NM_001033025,NR_048570 EXTL2,EXTL2,EXTL2,EXTL2,EXTL2,EXTL2 EXON Missense_G23R,Missense_G15R,Missense_G15R,Missense_G15R,Missense_G15R,Silent exm78314 1 101361856 [T/C] NM_001144884,NM_133496 SLC30A7,SLC30A7 EXON Missense_P13L,Missense_P13L exm78326 1 101377678 [C/G] NM_001144884,NM_133496 SLC30A7,SLC30A7 EXON Missense_A132G,Missense_A132G exm78328 1 101377789 [A/G] NM_001144884,NM_133496 SLC30A7,SLC30A7 EXON Missense_G169D,Missense_G169D exm78333 1 101379273 [A/G] NM_001144884,NM_133496 SLC30A7,SLC30A7 EXON Missense_H189R,Missense_H189R exm78346 1 101387340 [A/G] NM_001144884,NM_133496 SLC30A7,SLC30A7 EXON Missense_G262D,Missense_G262D exm78376 1 101456010 [A/G] NM_001077395,NM_001077394,NM_015958 DPH5,DPH5,DPH5 EXON Missense_S270F,Missense_S271F,Missense_S271F exm78382 1 101458271 [A/G] NM_001077395,NM_001077394,NM_015958 DPH5,DPH5,DPH5 EXON Missense_R186W,Missense_R186W,Missense_R186W exm78390 1 101487246 [T/C] NM_001077395,NM_001077394,NM_015958 DPH5,DPH5,DPH5 EXON Missense_D71N,Missense_D71N,Missense_D71N exm78393 1 101490936 [T/C] NM_001077395,NM_001077394,NM_015958 DPH5,DPH5,DPH5 EXON Missense_V22I,Missense_V22I,Missense_V22I exm-rs17410015 1 101551926 [T/C] exm78397 1 101704572 [A/C] NM_001400 S1PR1 EXON Missense_A11D exm78398 1 101704577 [C/G] NM_001400 S1PR1 EXON Missense_R13G exm78400 1 101704674 [T/C] NM_001400 S1PR1 EXON Missense_I45T exm78417 1 101705252 [T/C] NM_001400 S1PR1 EXON Missense_R238C exm78418 1 101705274 [A/G] NM_001400 S1PR1 EXON Missense_S245N exm2259666 1 101711964 [T/G] exm-rs1948368 1 101938477 [A/G] exm2268919 1 102159783 [T/C] exm78444 1 102270082 [G/C] NM_058170 OLFM3 EXON Missense_K363N exm78460 1 102271702 [A/G] NM_058170 OLFM3 EXON Missense_T210I exm78469 1 102296236 [A/G] NM_058170 OLFM3 EXON Missense_H122Y exm78470 1 102296248 [A/G] NM_058170 OLFM3 EXON Missense_L118F exm78475 1 102302475 [T/C] NM_058170 OLFM3 EXON Missense_R59Q exm2249471 1 102389733 [T/C] NM_058170 OLFM3 Silent exm2264878 1 102608577 [A/G] exm2268920 1 102968036 [T/C] exm-rs10874639 1 103133909 [A/G] exm2264879 1 103216881 [A/G] exm78506 1 103343637 [T/C] NM_080630,NM_001190709,NM_001854,NM_080629 COL11A1,COL11A1,COL11A1,COL11A1 EXON Missense_D1671N,Missense_D1748N,Missense_D1787N,Missense_D1799N exm78510 1 103345315 [T/C] NM_080630,NM_001190709,NM_001854,NM_080629 COL11A1,COL11A1,COL11A1,COL11A1 EXON Missense_R1617H,Missense_R1694H,Missense_R1733H,Missense_R1745H exm2230660 1 103352512 [A/G] NM_080630,NM_001190709,NM_001854,NM_080629 COL11A1,COL11A1,COL11A1,COL11A1 EXON Missense_L1454P,Missense_L1531P,Missense_L1570P,Missense_L1582P exm78532 1 103354135 [G/C] NM_080630,NM_001190709,NM_001854,NM_080629 COL11A1,COL11A1,COL11A1,COL11A1 EXON Missense_P1420A,Missense_P1497A,Missense_P1536A,Missense_P1548A exm78533 1 103354138 [A/G] NM_080630,NM_001190709,NM_001854,NM_080629 COL11A1,COL11A1,COL11A1,COL11A1 EXON Missense_S1419P,Missense_S1496P,Missense_S1535P,Missense_S1547P exm1690218 1 103354445 [A/G] NM_080630,NM_001190709,NM_001854,NM_080629 COL11A1,COL11A1,COL11A1,COL11A1 EXON Missense_P1383S,Missense_P1460S,Missense_P1499S,Missense_P1511S exm78541 1 103354472 [T/C] NM_080630,NM_001190709,NM_001854,NM_080629 COL11A1,COL11A1,COL11A1,COL11A1 EXON Missense_I1374V,Missense_I1451V,Missense_I1490V,Missense_I1502V exm78549 1 103355059 [T/G] NM_080630,NM_001190709,NM_001854,NM_080629 COL11A1,COL11A1,COL11A1,COL11A1 EXON Missense_D1356E,Missense_D1433E,Missense_D1472E,Missense_D1484E exm78560 1 103364248 [T/C] NM_080630,NM_001190709,NM_001854,NM_080629 COL11A1,COL11A1,COL11A1,COL11A1 EXON Missense_G1292S,Missense_G1369S,Missense_G1408S,Missense_G1420S exm78569 1 103377744 [T/C] NM_080630,NM_001190709,NM_001854,NM_080629 COL11A1,COL11A1,COL11A1,COL11A1 EXON Missense_A1237T,Missense_A1314T,Missense_A1353T,Missense_A1365T exm78571 1 103379193 [T/C] NM_080630,NM_001190709,NM_001854,NM_080629 COL11A1,COL11A1,COL11A1,COL11A1 EXON Synonymous_P1228P,Synonymous_P1305P,Synonymous_P1344P,Synonymous_P1356P exm78579 1 103379918 [A/G] NM_080630,NM_001190709,NM_001854,NM_080629 COL11A1,COL11A1,COL11A1,COL11A1 EXON Missense_P1207L,Missense_P1284L,Missense_P1323L,Missense_P1335L exm78597 1 103381192 [A/C] NM_080630,NM_001190709,NM_001854,NM_080629 COL11A1,COL11A1,COL11A1,COL11A1 EXON Missense_V1155L,Missense_V1232L,Missense_V1271L,Missense_V1283L exm78648 1 103428312 [T/G] NM_080630,NM_001190709,NM_001854,NM_080629 COL11A1,COL11A1,COL11A1,COL11A1 EXON Missense_P858Q,Missense_P935Q,Missense_P974Q,Missense_P986Q exm2265032 1 103432657 [A/G] NM_080630,NM_001190709,NM_001854,NM_080629 COL11A1,COL11A1,COL11A1,COL11A1 Silent,Silent,Silent,Silent exm1690276 1 103444283 [A/G] NM_080630,NM_001190709,NM_001854,NM_080629 COL11A1,COL11A1,COL11A1,COL11A1 EXON Missense_P796L,Missense_P873L,Missense_P912L,Missense_P924L exm78670 1 103444970 [A/T] NM_080630,NM_001190709,NM_001854,NM_080629 COL11A1,COL11A1,COL11A1,COL11A1 EXON Missense_F744I,Missense_F821I,Missense_F860I,Missense_F872I exm78672 1 103453238 [T/C] NM_080630,NM_001190709,NM_001854,NM_080629 COL11A1,COL11A1,COL11A1,COL11A1 EXON Missense_R702Q,Missense_R779Q,Missense_R818Q,Missense_R830Q exm78693 1 103468332 [T/C] NM_080630,NM_001190709,NM_001854,NM_080629 COL11A1,COL11A1,COL11A1,COL11A1 EXON Missense_D556N,Missense_D633N,Missense_D672N,Missense_D684N exm78699 1 103468820 [C/G] NM_080630,NM_001190709,NM_001854,NM_080629 COL11A1,COL11A1,COL11A1,COL11A1 EXON Missense_P534R,Missense_P611R,Missense_P650R,Missense_P662R exm78706 1 103470210 [T/C] NM_080630,NM_001190709,NM_001854,NM_080629 COL11A1,COL11A1,COL11A1,COL11A1 EXON Missense_R502Q,Missense_R579Q,Missense_R618Q,Missense_R630Q exm78716 1 103480117 [T/C] NM_080630,NM_001190709,NM_001854,NM_080629 COL11A1,COL11A1,COL11A1,COL11A1 EXON Missense_T392A,Missense_T469A,Missense_T508A,Missense_T520A exm78722 1 103481285 [T/C] NM_080630,NM_001190709,NM_001854,NM_080629 COL11A1,COL11A1,COL11A1,COL11A1 EXON Missense_R360H,Missense_R437H,Missense_R476H,Missense_R488H exm-rs945748 1 103483514 [T/C] NM_080630,NM_001190709,NM_001854,NM_080629 COL11A1,COL11A1,COL11A1,COL11A1 Silent,Silent,Silent,Silent exm78738 1 103488342 [T/A] NM_080630,NM_001190709,NM_001854,NM_080629 COL11A1,COL11A1,COL11A1,COL11A1 EXON Silent,Missense_F362I,Missense_F401I,Missense_F413I exm78745 1 103488522 [C/G] NM_080630,NM_001190709,NM_001854,NM_080629 COL11A1,COL11A1,COL11A1,COL11A1 EXON Silent,Missense_E302Q,Missense_E341Q,Missense_E353Q exm78747 1 103491102 [A/G] NM_080630,NM_001190709,NM_001854,NM_080629 COL11A1,COL11A1,COL11A1,COL11A1 EXON Silent,Missense_P283L,Missense_P322L,Missense_P334L exm78753 1 103491163 [T/C] NM_080630,NM_001190709,NM_001854,NM_080629 COL11A1,COL11A1,COL11A1,COL11A1 EXON Silent,Missense_I263V,Missense_I302V,Missense_I314V exm78754 1 103491354 [A/G] NM_080630,NM_001190709,NM_001854,NM_080629 COL11A1,COL11A1,COL11A1,COL11A1 Silent,Silent,Silent,Silent exm78760 1 103491461 [T/G] NM_080630,NM_001190709,NM_001854,NM_080629 COL11A1,COL11A1,COL11A1,COL11A1 EXON Silent,Silent,Silent,Missense_K276N exm78764 1 103491777 [T/C] NM_080630,NM_001190709,NM_001854,NM_080629 COL11A1,COL11A1,COL11A1,COL11A1 EXON Missense_T298A,Silent,Missense_T298A,Silent exm78767 1 103491824 [T/C] NM_080630,NM_001190709,NM_001854,NM_080629 COL11A1,COL11A1,COL11A1,COL11A1 EXON Missense_E282G,Silent,Missense_E282G,Silent exm78774 1 103496754 [T/C] NM_080630,NM_001190709,NM_001854,NM_080629 COL11A1,COL11A1,COL11A1,COL11A1 EXON Missense_Y233C,Missense_Y233C,Missense_Y233C,Missense_Y233C exm2273668 1 103540265 [A/G] NM_080630,NM_001190709,NM_001854,NM_080629 COL11A1,COL11A1,COL11A1,COL11A1 EXON Missense_T187M,Missense_T187M,Missense_T187M,Missense_T187M exm78800 1 103548477 [T/C] NM_080630,NM_001190709,NM_001854,NM_080629 COL11A1,COL11A1,COL11A1,COL11A1 EXON Missense_G53E,Missense_G53E,Missense_G53E,Missense_G53E exm78801 1 103548489 [T/C] NM_080630,NM_001190709,NM_001854,NM_080629 COL11A1,COL11A1,COL11A1,COL11A1 EXON Missense_N49S,Missense_N49S,Missense_N49S,Missense_N49S exm78803 1 103548497 [A/C] NM_080630,NM_001190709,NM_001854,NM_080629 COL11A1,COL11A1,COL11A1,COL11A1 EXON Missense_D46E,Missense_D46E,Missense_D46E,Missense_D46E exm78804 1 103548505 [T/C] NM_080630,NM_001190709,NM_001854,NM_080629 COL11A1,COL11A1,COL11A1,COL11A1 EXON Missense_A44T,Missense_A44T,Missense_A44T,Missense_A44T exm78807 1 103573683 [T/A] NM_080630,NM_001190709,NM_001854,NM_080629 COL11A1,COL11A1,COL11A1,COL11A1 EXON Missense_T18S,Missense_T18S,Missense_T18S,Missense_T18S exm78819 1 104078809 [T/C] NM_017619 RNPC3 EXON Missense_P206L exm78829 1 104093571 [T/C] NM_017619 RNPC3 EXON Missense_I457T exm78857 1 104116343 [A/G] NM_020978 AMY2B EXON Missense_R176H exm78858 1 104116375 [A/C] NM_020978 AMY2B EXON Missense_K187Q exm78905 1 104118163 [A/G] NM_020978 AMY2B Silent exm78922 1 104122045 [A/G] NM_020978 AMY2B EXON Missense_D487N exm78923 1 104122057 [T/C] NM_020978 AMY2B EXON Missense_H491Y exm79027 1 104297239 [A/G] NM_001008221,NM_004038,NM_001008219,NM_001008218 AMY1A,AMY1A,AMY1C,AMY1B EXON Missense_A333T,Missense_A333T,Missense_A333T,Missense_A333T exm2265033 1 104484650 [A/G] exm2264881 1 104561488 [A/G] exm-rs12407548 1 104731827 [A/G] exm2249477 1 104736156 [A/C] exm2259670 1 105347101 [A/G] exm2264882 1 105447979 [A/G] exm2249483 1 106774642 [A/G] exm2268922 1 107163979 [T/C] exm2264884 1 107220341 [A/G] exm-rs12726652 1 107432576 [A/G] exm-rs4118325 1 107577832 [A/G] exm79040 1 107599482 [A/G] NM_018137 PRMT6 EXON Missense_E49K exm79062 1 107599918 [T/C] NM_018137 PRMT6 EXON Missense_A194V exm79087 1 107691418 [T/C] NM_001113228,NM_001113226,NM_014917 NTNG1,NTNG1,NTNG1 EXON Missense_P68L,Missense_P68L,Missense_P68L exm2263862 1 107725743 [A/C] NM_001113228,NM_001113226,NM_014917 NTNG1,NTNG1,NTNG1 Silent,Silent,Silent exm-rs10494067 1 107830858 [A/C] NM_001113228,NM_001113226,NM_014917 NTNG1,NTNG1,NTNG1 Silent,Silent,Silent exm2249486 1 107936393 [A/G] NM_001113228,NM_001113226,NM_014917 NTNG1,NTNG1,NTNG1 Silent,Silent,Silent exm79127 1 107973414 [A/G] NM_001113228,NM_001113226,NM_014917 NTNG1,NTNG1,NTNG1 EXON Silent,Missense_D377G,Silent exm2264886 1 108088171 [A/G] exm79150 1 108116715 [A/G] NM_001079874,NM_006113 VAV3,VAV3 EXON Missense_T259I,Missense_T819I exm1690772 1 108138962 [T/C] NM_001079874,NM_006113 VAV3,VAV3 EXON Missense_E181G,Missense_E741G exm79160 1 108145748 [T/C] NM_001079874,NM_006113 VAV3,VAV3 EXON Missense_E125K,Missense_E685K exm79162 1 108152557 [T/G] NM_001079874,NM_006113 VAV3,VAV3 EXON Missense_P111T,Missense_P671T exm79173 1 108185282 [T/C] NM_001079874,NM_006113 VAV3,VAV3 EXON Missense_V65I,Missense_V625I exm79175 1 108185301 [G/C] NM_001079874,NM_006113 VAV3,VAV3 EXON Missense_Q58H,Missense_Q618H exm79176 1 108185309 [A/G] NM_001079874,NM_006113 VAV3,VAV3 EXON Missense_P56S,Missense_P616S exm79177 1 108185314 [T/C] NM_001079874,NM_006113 VAV3,VAV3 EXON Missense_G54E,Missense_G614E exm79179 1 108185345 [A/G] NM_001079874,NM_006113 VAV3,VAV3 EXON Missense_S44P,Missense_S604P exm79200 1 108291695 [A/G] NM_006113 VAV3 EXON Missense_S466F exm79215 1 108298086 [T/C] NM_006113 VAV3 EXON Missense_R379H exm79217 1 108299923 [A/G] NM_006113 VAV3 EXON Missense_T349I exm79222 1 108307727 [A/T] NM_006113 VAV3 EXON Missense_T298S exm79225 1 108309153 [T/C] NM_006113 VAV3 EXON Missense_R246Q exm79226 1 108309154 [A/G] NM_006113 VAV3 EXON Missense_R246W exm79230 1 108313258 [T/C] NM_006113 VAV3 EXON Synonymous_K216K exm79235 1 108315357 [A/G] NM_006113 VAV3 EXON Synonymous_P185P exm79239 1 108319884 [T/C] NM_006113 VAV3 EXON Missense_D139N exm79243 1 108322065 [A/G] NM_006113 VAV3 EXON Missense_T124I exm79252 1 108417605 [A/G] NM_006113 VAV3 EXON Missense_T80M exm1690837 1 108507344 [A/G] NM_006113,NR_046653 VAV3,VAV3-AS1 EXON Missense_L50F,Silent exm79258 1 108507419 [A/G] NM_006113,NR_046653 VAV3,VAV3-AS1 EXON Missense_W25R,Silent exm79261 1 108507469 [A/G] NM_006113,NR_046653 VAV3,VAV3-AS1 EXON Missense_A8V,Silent exm79262 1 108507473 [A/C] NM_006113,NR_046653 VAV3,VAV3-AS1 EXON Missense_C7G,Silent exm2268923 1 108523670 [T/G] NR_046653 VAV3-AS1 Silent exm2276848 1 108681756 [A/G] NM_213651,NM_013386 SLC25A24,SLC25A24 EXON Synonymous_C372C,Synonymous_C391C exm79278 1 108681795 [T/G] NM_213651,NM_013386 SLC25A24,SLC25A24 EXON Missense_K359N,Missense_K378N exm79280 1 108681808 [T/C] NM_213651,NM_013386 SLC25A24,SLC25A24 EXON Missense_D355G,Missense_D374G exm79283 1 108690906 [T/C] NM_213651,NM_013386 SLC25A24,SLC25A24 EXON Missense_M290V,Missense_M309V exm79286 1 108690963 [T/C] NM_213651,NM_013386 SLC25A24,SLC25A24 EXON Missense_E271K,Missense_E290K exm79296 1 108700128 [A/G] NM_213651,NM_013386 SLC25A24,SLC25A24 EXON Nonsense_R190X,Nonsense_R209X exm79302 1 108703824 [A/G] NM_213651,NM_013386 SLC25A24,SLC25A24 EXON Missense_R145C,Missense_R164C exm79306 1 108703852 [A/C] NM_213651,NM_013386 SLC25A24,SLC25A24 EXON Missense_N135K,Missense_N154K exm2268737 1 108737586 [T/C] NM_013386 SLC25A24 Silent exm79346 1 108766348 [A/C] NM_001143989 NBPF4 EXON Missense_R632S exm79423 1 109103124 [A/G] NM_001010883 FAM102B EXON Missense_N25S exm79431 1 109154858 [A/G] NM_001010883 FAM102B EXON Missense_R116H exm79433 1 109154881 [A/C] NM_001010883 FAM102B EXON Missense_T124P exm79442 1 109170871 [T/G] NM_001010883 FAM102B EXON Missense_Q213H exm79446 1 109171175 [A/G] NM_001010883 FAM102B EXON Missense_K271E exm79458 1 109177748 [A/T] NM_001010883 FAM102B EXON Nonsense_Y353X exm79464 1 109191219 [T/C] NM_144584,NM_001102592 HENMT1,HENMT1 EXON Missense_R384H,Missense_R384H exm79468 1 109191298 [T/C] NM_144584,NM_001102592 HENMT1,HENMT1 EXON Missense_N358D,Missense_N358D exm79469 1 109191310 [A/G] NM_144584,NM_001102592 HENMT1,HENMT1 EXON Missense_R354C,Missense_R354C exm79475 1 109191409 [T/C] NM_144584,NM_001102592 HENMT1,HENMT1 EXON Missense_V321I,Missense_V321I exm79488 1 109193733 [T/G] NM_144584,NM_001102592 HENMT1,HENMT1 EXON Missense_E166A,Missense_E166A exm79495 1 109197351 [T/C] NM_144584,NM_001102592 HENMT1,HENMT1 EXON Missense_T129A,Missense_T129A exm79499 1 109197393 [T/C] NM_144584,NM_001102592 HENMT1,HENMT1 EXON Missense_V115I,Missense_V115I exm79510 1 109200108 [T/C] NM_144584,NM_001102592 HENMT1,HENMT1 EXON Missense_V39I,Missense_V39I exm79514 1 109200189 [T/C] NM_144584,NM_001102592 HENMT1,HENMT1 EXON Missense_V12I,Missense_V12I exm79551 1 109242056 [A/G] NM_018061,NR_037185 PRPF38B,PRPF38B EXON Missense_R352K,Silent exm79558 1 109242185 [A/G] NM_018061,NR_037185 PRPF38B,PRPF38B EXON Missense_R395K,Silent exm79560 1 109242232 [T/C] NM_018061,NR_037185 PRPF38B,PRPF38B EXON Missense_R411W,Silent exm79566 1 109242392 [A/G] NM_018061,NR_037185 PRPF38B,PRPF38B EXON Missense_K464R,Silent exm79570 1 109242500 [A/G] NM_018061,NR_037185 PRPF38B,PRPF38B EXON Missense_R500H,Silent exm79578 1 109242617 [A/G] NM_018061,NR_037185 PRPF38B,PRPF38B EXON Missense_H539R,Silent exm79579 1 109242622 [A/G] NM_018061,NR_037185 PRPF38B,PRPF38B EXON Missense_N541D,Silent exm79585 1 109255566 [A/G] NM_001144937 FNDC7 EXON Missense_G4E exm79591 1 109260477 [G/C] NM_001144937 FNDC7 EXON Missense_G54A exm79601 1 109261509 [A/G] NM_001144937 FNDC7 EXON Missense_I146V exm79602 1 109261534 [A/G] NM_001144937 FNDC7 EXON Missense_S154N exm79606 1 109265029 [T/G] NM_001144937 FNDC7 EXON Missense_R224L exm79611 1 109265134 [T/G] NM_001144937 FNDC7 EXON Missense_G259V exm79617 1 109268435 [C/G] NM_001144937 FNDC7 EXON Missense_W307S exm79618 1 109268441 [A/G] NM_001144937 FNDC7 EXON Missense_S309N exm79621 1 109268573 [T/C] NM_001144937 FNDC7 EXON Missense_V353A exm79622 1 109268608 [A/G] NM_001144937 FNDC7 EXON Missense_I365V exm79624 1 109268615 [A/G] NM_001144937 FNDC7 EXON Missense_N367S exm79629 1 109270459 [A/G] NM_001144937 FNDC7 EXON Missense_V381M exm79630 1 109270464 [C/G] NM_001144937 FNDC7 EXON Missense_L382F exm79639 1 109270597 [T/G] NM_001144937 FNDC7 EXON Nonsense_E427X exm79641 1 109270645 [T/C] NM_001144937 FNDC7 EXON Nonsense_R443X exm79643 1 109270657 [A/G] NM_001144937 FNDC7 EXON Missense_M447V exm79648 1 109271347 [T/C] NM_001144937 FNDC7 EXON Missense_T488M exm79651 1 109271364 [A/G] NM_001144937 FNDC7 EXON Missense_E494K exm79654 1 109271428 [T/G] NM_001144937 FNDC7 EXON Missense_G515V exm1690941 1 109271464 [A/G] NM_001144937 FNDC7 EXON Missense_Q527R exm79658 1 109271490 [A/G] NM_001144937 FNDC7 EXON Missense_S536G exm1690943 1 109273319 [A/G] NM_001144937 FNDC7 EXON Missense_T550A exm79663 1 109273351 [A/C] NM_001144937 FNDC7 EXON Missense_N560K exm79671 1 109276017 [A/T] NM_001144937 FNDC7 EXON Missense_F668Y exm79675 1 109276068 [T/C] NM_001144937 FNDC7 EXON Missense_P685L exm79677 1 109276106 [A/G] NM_001144937 FNDC7 EXON Missense_A698T exm79679 1 109280135 [T/C] NM_001144937 FNDC7 EXON Missense_T720I exm79681 1 109284422 [A/G] NM_001144937 FNDC7 EXON Missense_E733G exm79713 1 109315291 [T/A] NM_007269 STXBP3 EXON Missense_Y148F exm79729 1 109325111 [T/C] NM_007269 STXBP3 EXON Nonsense_R293X exm79731 1 109325118 [A/G] NM_007269 STXBP3 EXON Missense_R295Q exm79745 1 109339337 [A/G] NM_007269 STXBP3 EXON Missense_I449V exm79747 1 109340783 [T/C] NM_007269 STXBP3 EXON Missense_P458L exm79750 1 109342902 [A/G] NM_007269 STXBP3 EXON Missense_V504I exm79765 1 109358897 [C/G] NM_152763,NR_049760 AKNAD1,AKNAD1 EXON Missense_L803V,Silent exm1690992 1 109359702 [T/C] NM_152763,NR_049760 AKNAD1,AKNAD1 EXON Missense_D783N,Silent exm79771 1 109359765 [T/C] NM_152763,NR_049760 AKNAD1,AKNAD1 EXON Missense_D762N,Silent exm79785 1 109363242 [T/A] NM_152763,NR_049760 AKNAD1,AKNAD1 EXON Nonsense_L725X,Silent exm79790 1 109365991 [T/C] NM_152763,NR_049760 AKNAD1,AKNAD1 Silent,Silent exm79801 1 109369915 [T/G] NM_152763,NR_049760 AKNAD1,AKNAD1 EXON Missense_N616K,Silent exm79806 1 109373214 [A/G] NM_152763,NR_049760 AKNAD1,AKNAD1 EXON Missense_P602L,Silent exm79814 1 109377070 [A/C] NM_152763,NR_049760 AKNAD1,AKNAD1 EXON Missense_G582V,Silent exm2273670 1 109377140 [A/C] NM_152763,NR_049760 AKNAD1,AKNAD1 EXON Missense_G559C,Silent exm79830 1 109377642 [A/G] NM_152763,NR_049760 AKNAD1,AKNAD1 EXON Nonsense_R525X,Silent exm79831 1 109377647 [T/C] NM_152763,NR_049760 AKNAD1,AKNAD1 EXON Missense_G523E,Silent exm79849 1 109391560 [G/C] NM_152763,NR_049760 AKNAD1,AKNAD1 EXON Missense_E386Q,Silent exm79850 1 109391576 [T/C] NM_152763,NR_049760 AKNAD1,AKNAD1 EXON Missense_M380I,Silent exm79854 1 109391658 [A/G] NM_152763,NR_049760 AKNAD1,AKNAD1 EXON Missense_S353F,Silent exm79855 1 109391662 [G/C] NM_152763,NR_049760 AKNAD1,AKNAD1 EXON Missense_L352V,Silent exm79859 1 109394326 [G/C] NM_152763,NR_049760 AKNAD1,AKNAD1 EXON Missense_G321R,Silent exm79863 1 109394370 [A/G] NM_152763,NR_049760 AKNAD1,AKNAD1 EXON Missense_T306M,Silent exm1691027 1 109394401 [T/G] NM_152763,NR_049760 AKNAD1,AKNAD1 EXON Missense_P296T,Silent exm79866 1 109394412 [A/G] NM_152763,NR_049760 AKNAD1,AKNAD1 EXON Missense_S292L,Silent exm79869 1 109394524 [A/G] NM_152763,NR_049760 AKNAD1,AKNAD1 EXON Missense_H255Y,Silent exm2249491 1 109394540 [A/G] NM_152763,NR_049760 AKNAD1,AKNAD1 EXON Synonymous_Y249Y,Silent exm79875 1 109394593 [A/C] NM_152763,NR_049760 AKNAD1,AKNAD1 EXON Missense_S232A,Silent exm79876 1 109394609 [T/A] NM_152763,NR_049760 AKNAD1,AKNAD1 EXON Missense_K226N,Silent exm79884 1 109394872 [G/C] NM_152763,NR_049760 AKNAD1,AKNAD1 EXON Missense_A139P,Silent exm79887 1 109394964 [T/C] NM_152763,NR_049760 AKNAD1,AKNAD1 EXON Missense_S108N,Silent exm79888 1 109394976 [A/G] NM_152763,NR_049760 AKNAD1,AKNAD1 EXON Missense_A104V,Silent exm2273671 1 109394985 [T/C] NM_152763,NR_049760 AKNAD1,AKNAD1 EXON Missense_E101G,Silent exm79891 1 109395031 [T/C] NM_152763,NR_049760 AKNAD1,AKNAD1 EXON Missense_E86K,Silent exm79893 1 109395105 [T/C] NM_152763,NR_049760 AKNAD1,AKNAD1 EXON Missense_S61N,Silent exm79896 1 109395153 [T/A] NM_152763,NR_049760 AKNAD1,AKNAD1 EXON Missense_N45I,Silent exm79906 1 109395258 [T/G] NM_152763,NR_049760 AKNAD1,AKNAD1 EXON Missense_T10K,Silent exm79908 1 109395280 [T/C] NM_152763,NR_049760 AKNAD1,AKNAD1 EXON Missense_E3K,Silent exm79917 1 109440129 [T/G] NM_013296 GPSM2 EXON Missense_Q98H exm79920 1 109440215 [A/G] NM_013296 GPSM2 EXON Missense_R127Q exm79927 1 109441314 [A/G] NM_013296 GPSM2 EXON Missense_R203H exm79930 1 109441516 [A/G] NM_013296 GPSM2 EXON Missense_K233E exm79939 1 109444447 [A/G] NM_013296 GPSM2 EXON Missense_R278Q exm79944 1 109446750 [A/G] NM_013296 GPSM2 EXON Missense_G356R exm79949 1 109456983 [T/C] NM_013296 GPSM2 EXON Missense_R406W exm79956 1 109461329 [A/G] NM_013296 GPSM2 EXON Missense_K453R exm79957 1 109461341 [T/C] NM_013296 GPSM2 EXON Missense_T457M exm79962 1 109465066 [A/G] NM_013296 GPSM2 EXON Missense_E490K exm79963 1 109465070 [G/C] NM_013296 GPSM2 EXON Missense_G491A exm1691052 1 109465084 [A/T] NM_013296 GPSM2 EXON Missense_L496I exm79969 1 109465168 [A/T] NM_013296 GPSM2 EXON Missense_S524T exm79970 1 109466652 [T/C] NM_013296 GPSM2 EXON Missense_T544M exm79972 1 109466682 [A/C] NM_013296 GPSM2 EXON Nonsense_S554X exm79973 1 109466691 [A/G] NM_013296 GPSM2 EXON Missense_R557H exm79974 1 109466715 [A/G] NM_013296 GPSM2 EXON Missense_S565N exm79977 1 109466751 [A/C] NM_013296 GPSM2 EXON Missense_N577T exm79978 1 109466760 [T/C] NM_013296 GPSM2 EXON Missense_S580L exm79979 1 109466803 [T/G] NM_013296 GPSM2 EXON Missense_D594E exm79982 1 109472327 [T/C] NM_013296,NM_001048210,NM_015127 GPSM2,CLCC1,CLCC1 EXON Missense_S607F,Silent,Silent exm79983 1 109472378 [T/C] NM_013296,NM_001048210,NM_015127 GPSM2,CLCC1,CLCC1 EXON Missense_P624L,Silent,Silent exm1691058 1 109472416 [T/C] NM_013296,NM_001048210,NM_015127 GPSM2,CLCC1,CLCC1 EXON Missense_R637W,Silent,Silent exm2249492 1 109477313 [C/G] NM_001048210,NM_015127 CLCC1,CLCC1 EXON Synonymous_P545P,Synonymous_P495P exm79991 1 109477313 [C/G] NM_001048210,NM_015127 CLCC1,CLCC1 EXON Synonymous_P545P,Synonymous_P495P exm79994 1 109477348 [T/C] NM_001048210,NM_015127 CLCC1,CLCC1 EXON Missense_A534T,Missense_A484T exm79997 1 109477392 [G/C] NM_001048210,NM_015127 CLCC1,CLCC1 EXON Missense_S519C,Missense_S469C exm80001 1 109477429 [C/G] NM_001048210,NM_015127 CLCC1,CLCC1 EXON Missense_E507Q,Missense_E457Q exm80002 1 109477462 [G/C] NM_001048210,NM_015127 CLCC1,CLCC1 EXON Missense_P496A,Missense_P446A exm80004 1 109477468 [T/C] NM_001048210,NM_015127 CLCC1,CLCC1 EXON Missense_A494T,Missense_A444T exm80005 1 109477470 [A/G] NM_001048210,NM_015127 CLCC1,CLCC1 EXON Missense_S493L,Missense_S443L exm80015 1 109479829 [T/C] NM_001048210,NM_015127 CLCC1,CLCC1 EXON Missense_G418D,Missense_G368D exm80020 1 109479953 [A/G] NM_001048210,NM_015127 CLCC1,CLCC1 EXON Missense_R377W,Missense_R327W exm80022 1 109479959 [A/G] NM_001048210,NM_015127 CLCC1,CLCC1 EXON Missense_R375W,Missense_R325W exm80023 1 109479977 [T/C] NM_001048210,NM_015127 CLCC1,CLCC1 EXON Missense_E369K,Missense_E319K exm80024 1 109479978 [T/G] NM_001048210,NM_015127 CLCC1,CLCC1 EXON Missense_S368R,Missense_S318R exm80035 1 109482355 [A/G] NM_001048210,NM_015127 CLCC1,CLCC1 EXON Missense_I315T,Missense_I265T exm80053 1 109486156 [A/G] NM_001048210,NM_015127 CLCC1,CLCC1 EXON Missense_R215C,Missense_R165C exm80059 1 109486213 [T/C] NM_001048210,NM_015127 CLCC1,CLCC1 EXON Missense_V196M,Missense_V146M exm80064 1 109486541 [T/G] NM_001048210,NM_015127 CLCC1,CLCC1 EXON Missense_I160L,Silent exm80065 1 109486553 [T/C] NM_001048210,NM_015127 CLCC1,CLCC1 EXON Missense_S156G,Silent exm80077 1 109492528 [T/A] NM_001048210,NM_015127 CLCC1,CLCC1 EXON Missense_S49T,Missense_S49T exm80103 1 109526041 [T/C] NM_014969,NM_001142550,NM_001142551 WDR47,WDR47,WDR47 EXON Missense_R654H,Missense_R661H,Missense_R653H exm80118 1 109538263 [A/G] NM_014969,NM_001142550,NM_001142551 WDR47,WDR47,WDR47 EXON Missense_R545C,Missense_R552C,Missense_R544C exm80132 1 109553539 [A/G] NM_014969,NM_001142550,NM_001142551 WDR47,WDR47,WDR47 EXON Nonsense_R377X,Nonsense_R384X,Missense_R377C exm80149 1 109556543 [A/G] NM_014969,NM_001142550,NM_001142551 WDR47,WDR47,WDR47 EXON Missense_R83C,Missense_R83C,Missense_R83C exm1691129 1 109560146 [T/C] NM_014969,NM_001142550,NM_001142551 WDR47,WDR47,WDR47 EXON Missense_K79R,Missense_K79R,Missense_K79R exm80161 1 109608833 [T/A] NM_005645 TAF13 EXON Missense_F43Y exm80195 1 109649162 [A/G] NM_001122961 C1orf194 EXON Missense_S133F exm80201 1 109649656 [T/G] NM_001122961 C1orf194 EXON Missense_N84T exm1691155 1 109649719 [T/C] NM_001122961 C1orf194 EXON Missense_R63H exm80207 1 109650568 [T/C] NM_001122961 C1orf194 EXON Missense_R46Q exm80209 1 109650604 [T/C] NM_001122961 C1orf194 EXON Missense_R34Q exm80222 1 109656870 [A/T] NM_001267048,NR_049773,NM_020775 KIAA1324,KIAA1324,KIAA1324 EXON Missense_I22K,Silent,Missense_I22K exm80230 1 109704525 [T/C] NM_001267048,NR_049773,NM_020775 KIAA1324,KIAA1324,KIAA1324 EXON Missense_H55Y,Silent,Missense_H55Y exm80236 1 109704618 [A/G] NM_001267048,NR_049773,NM_020775 KIAA1324,KIAA1324,KIAA1324 EXON Missense_I86V,Silent,Missense_I86V exm80238 1 109707121 [G/C] NM_001267048,NR_049773,NM_020775 KIAA1324,KIAA1324,KIAA1324 EXON Missense_S92C,Silent,Missense_S92C exm1691168 1 109707183 [A/G] NM_001267048,NR_049773,NM_020775 KIAA1324,KIAA1324,KIAA1324 EXON Missense_E113K,Silent,Missense_E113K exm80244 1 109707214 [A/G] NM_001267048,NR_049773,NM_020775 KIAA1324,KIAA1324,KIAA1324 EXON Missense_R123Q,Silent,Missense_R123Q exm80249 1 109707313 [T/C] NM_001267048,NR_049773,NM_020775 KIAA1324,KIAA1324,KIAA1324 EXON Missense_S156L,Silent,Missense_S156L exm80251 1 109714505 [A/G] NM_001267048,NR_049773,NM_020775 KIAA1324,KIAA1324,KIAA1324 EXON Missense_R162Q,Silent,Missense_R162Q exm80256-other 1 109714635 [T/C] NM_001267048,NR_049773,NM_020775 KIAA1324,KIAA1324,KIAA1324 EXON Synonymous_F205F,Silent,Synonymous_F205F exm80256 1 109714635 [T/C] NM_001267048,NR_049773,NM_020775 KIAA1324,KIAA1324,KIAA1324 EXON Synonymous_F205F,Silent,Synonymous_F205F exm80265 1 109716352 [T/C] NM_001267048,NR_049773,NM_020775 KIAA1324,KIAA1324,KIAA1324 EXON Silent,Silent,Missense_T282M exm2268924 1 109723090 [T/C] NM_001267048,NR_049773,NM_020775 KIAA1324,KIAA1324,KIAA1324 Silent,Silent,Silent exm80275 1 109727733 [T/C] NM_001267048,NR_049773,NM_020775 KIAA1324,KIAA1324,KIAA1324 EXON Silent,Silent,Missense_T340M exm80282 1 109730929 [A/G] NM_001267048,NR_049773,NM_020775,NR_049774,NM_001267049 KIAA1324,KIAA1324,KIAA1324,KIAA1324,KIAA1324 EXON Missense_N304S,Silent,Missense_N391S,Silent,Missense_N41S exm80285 1 109731697 [A/G] NM_001267048,NR_049773,NM_020775,NR_049774,NM_001267049 KIAA1324,KIAA1324,KIAA1324,KIAA1324,KIAA1324 EXON Missense_R323H,Silent,Missense_R410H,Silent,Missense_R60H exm80298 1 109734046 [T/G] NM_001267048,NR_049773,NM_020775,NR_049774,NM_001267049 KIAA1324,KIAA1324,KIAA1324,KIAA1324,KIAA1324 EXON Missense_V413F,Silent,Missense_V500F,Silent,Missense_V150F exm80304 1 109734349 [A/G] NM_001267048,NR_049773,NM_020775,NR_049774,NM_001267049 KIAA1324,KIAA1324,KIAA1324,KIAA1324,KIAA1324 EXON Missense_G429D,Silent,Missense_G516D,Silent,Missense_G166D exm80305 1 109734351 [A/G] NM_001267048,NR_049773,NM_020775,NR_049774,NM_001267049 KIAA1324,KIAA1324,KIAA1324,KIAA1324,KIAA1324 EXON Missense_V430M,Silent,Missense_V517M,Silent,Missense_V167M exm80308 1 109734405 [T/C] NM_001267048,NR_049773,NM_020775,NR_049774,NM_001267049 KIAA1324,KIAA1324,KIAA1324,KIAA1324,KIAA1324 EXON Nonsense_Q448X,Silent,Nonsense_Q535X,Silent,Nonsense_Q185X exm80314 1 109735267 [A/G] NM_001267048,NR_049773,NM_020775,NR_049774,NM_001267049 KIAA1324,KIAA1324,KIAA1324,KIAA1324,KIAA1324 EXON Missense_Y486C,Silent,Missense_Y573C,Silent,Missense_Y223C exm80321 1 109735416 [A/C] NM_001267048,NR_049773,NM_020775,NR_049774,NM_001267049 KIAA1324,KIAA1324,KIAA1324,KIAA1324,KIAA1324 EXON Missense_T536P,Silent,Missense_T623P,Silent,Missense_T273P exm80325 1 109735481 [A/G] NM_001267048,NR_049773,NM_020775,NR_049774,NM_001267049 KIAA1324,KIAA1324,KIAA1324,KIAA1324,KIAA1324 EXON Synonymous_G557G,Silent,Synonymous_G644G,Silent,Synonymous_G294G exm80339 1 109740138 [T/C] NM_001267048,NR_049773,NM_020775,NR_049774,NM_001267049 KIAA1324,KIAA1324,KIAA1324,KIAA1324,KIAA1324 EXON Missense_R635W,Silent,Missense_R722W,Silent,Missense_R372W exm80349 1 109740603 [T/G] NM_001267048,NR_049773,NM_020775,NR_049774,NM_001267049 KIAA1324,KIAA1324,KIAA1324,KIAA1324,KIAA1324 EXON Missense_V682L,Silent,Missense_V769L,Silent,Missense_V419L exm80353 1 109741244 [T/C] NM_001267048,NR_049773,NM_020775,NR_049774,NM_001267049 KIAA1324,KIAA1324,KIAA1324,KIAA1324,KIAA1324 EXON Missense_R730C,Silent,Missense_R817C,Silent,Missense_R467C exm80355 1 109741274 [T/C] NM_001267048,NR_049773,NM_020775,NR_049774,NM_001267049 KIAA1324,KIAA1324,KIAA1324,KIAA1324,KIAA1324 EXON Missense_P740S,Silent,Missense_P827S,Silent,Missense_P477S exm80366 1 109742531 [A/G] NM_001267048,NR_049773,NM_020775,NR_049774,NM_001267049 KIAA1324,KIAA1324,KIAA1324,KIAA1324,KIAA1324 EXON Missense_A766T,Silent,Missense_A853T,Silent,Missense_A503T exm80367 1 109742532 [T/C] NM_001267048,NR_049773,NM_020775,NR_049774,NM_001267049 KIAA1324,KIAA1324,KIAA1324,KIAA1324,KIAA1324 EXON Missense_A766V,Silent,Missense_A853V,Silent,Missense_A503V exm80370 1 109742595 [A/G] NM_001267048,NR_049773,NM_020775,NR_049774,NM_001267049 KIAA1324,KIAA1324,KIAA1324,KIAA1324,KIAA1324 EXON Missense_G787E,Silent,Missense_G874E,Silent,Missense_G524E exm2230713 1 109743512 [T/C] NM_001267048,NR_049773,NM_020775,NR_049774,NM_001267049 KIAA1324,KIAA1324,KIAA1324,KIAA1324,KIAA1324 EXON Missense_F901S,Silent,Missense_F988S,Silent,Missense_F638S exm80384 1 109745618 [T/C] NM_001267048,NR_049773,NM_020775,NR_049774,NM_001267049 KIAA1324,KIAA1324,KIAA1324,KIAA1324,KIAA1324 EXON Missense_L922P,Silent,Missense_L1009P,Silent,Missense_L659P exm80400 1 109772103 [T/C] NM_006513 SARS EXON Missense_A119V exm80403 1 109772168 [T/C] NM_006513 SARS EXON Missense_P141S exm80404 1 109772194 [A/G] NM_006513 SARS EXON Synonymous_E149E exm80405 1 109773516 [T/A] NM_006513 SARS EXON Missense_V155E exm1691242 1 109778650 [T/C] NM_006513 SARS EXON Missense_F341L exm80422 1 109778701 [T/C] NM_006513 SARS EXON Missense_P358S exm80424 1 109779073 [A/G] NM_006513 SARS EXON Missense_G387E exm80435 1 109780421 [A/C] NM_006513 SARS EXON Missense_K486Q exm80450 1 109792784 [T/C] NM_001408 CELSR2 EXON Missense_P28L exm80460 1 109792973 [A/G] NM_001408 CELSR2 EXON Missense_R91K exm80469 1 109793077 [A/C] NM_001408 CELSR2 EXON Missense_Q126K exm80470 1 109793128 [T/C] NM_001408 CELSR2 EXON Missense_L143F exm80475 1 109793273 [T/C] NM_001408 CELSR2 EXON Missense_P191L exm80484 1 109793480 [T/C] NM_001408 CELSR2 EXON Missense_T260M exm80487 1 109793499 [C/G] NM_001408 CELSR2 EXON Missense_M266I exm80490 1 109793540 [T/C] NM_001408 CELSR2 EXON Missense_T280I exm80493 1 109793564 [T/C] NM_001408 CELSR2 EXON Missense_V288A exm80503 1 109793798 [T/C] NM_001408 CELSR2 EXON Missense_T366M exm80506 1 109793851 [T/G] NM_001408 CELSR2 EXON Missense_A384S exm80507 1 109793894 [A/G] NM_001408 CELSR2 EXON Missense_Q398R exm2249497 1 109793973 [A/G] NM_001408 CELSR2 EXON Synonymous_S424S exm80509 1 109793973 [A/G] NM_001408 CELSR2 EXON Synonymous_S424S exm80523 1 109794311 [A/G] NM_001408 CELSR2 EXON Missense_N537S exm80524 1 109794316 [T/C] NM_001408 CELSR2 EXON Missense_R539C exm80530 1 109794437 [C/G] NM_001408 CELSR2 EXON Missense_G579A exm80532 1 109794455 [A/G] NM_001408 CELSR2 EXON Missense_H585R exm80536 1 109794493 [A/G] NM_001408 CELSR2 EXON Missense_V598M exm80537 1 109794497 [G/C] NM_001408 CELSR2 EXON Missense_T599S exm80540 1 109794593 [T/C] NM_001408 CELSR2 EXON Missense_T631M exm80544 1 109794709 [C/G] NM_001408 CELSR2 EXON Missense_A670P exm80547 1 109794785 [T/C] NM_001408 CELSR2 EXON Missense_T695M exm2230716 1 109794992 [T/C] NM_001408 CELSR2 EXON Missense_T764M exm80568 1 109795276 [A/G] NM_001408 CELSR2 EXON Missense_D859N exm80577 1 109795370 [A/G] NM_001408 CELSR2 EXON Missense_R890Q exm80593 1 109795894 [C/G] NM_001408 CELSR2 EXON Missense_E1065Q exm80594 1 109795898 [A/G] NM_001408 CELSR2 EXON Missense_R1066Q exm2249498 1 109801121 [T/C] NM_001408 CELSR2 EXON Synonymous_T1126T exm80613 1 109801345 [T/C] NM_001408 CELSR2 EXON Missense_P1201L exm80630 1 109801674 [A/C] NM_001408 CELSR2 EXON Missense_T1311P exm80646 1 109804152 [A/G] NM_001408 CELSR2 EXON Missense_R1400H exm80658 1 109804917 [T/G] NM_001408 CELSR2 EXON Missense_L1465F exm80663 1 109805030 [A/C] NM_001408 CELSR2 EXON Missense_S1503Y exm80675 1 109805568 [T/C] NM_001408 CELSR2 EXON Missense_I1562T exm80679 1 109805791 [A/T] NM_001408 CELSR2 EXON Missense_D1579V exm80691 1 109806313 [T/C] NM_001408 CELSR2 EXON Missense_Y1639H exm2263831 1 109806442 [A/C] NM_001408 CELSR2 Silent exm80696 1 109806773 [A/G] NM_001408 CELSR2 EXON Missense_G1692D exm1691311 1 109806964 [G/C] NM_001408 CELSR2 EXON Missense_R1756G exm80734 1 109807833 [A/G] NM_001408 CELSR2 EXON Missense_R1876H exm2249499 1 109807915 [T/C] NM_001408 CELSR2 EXON Synonymous_S1903S exm80743 1 109808423 [T/G] NM_001408 CELSR2 EXON Missense_L1932V exm1691322 1 109808444 [A/G] NM_001408 CELSR2 EXON Missense_E1939K exm80745 1 109808448 [A/G] NM_001408 CELSR2 EXON Missense_D1940G exm80747 1 109808480 [A/G] NM_001408 CELSR2 EXON Missense_G1951R exm80755 1 109808789 [A/G] NM_001408 CELSR2 EXON Missense_G1992R exm80759 1 109810200 [A/G] NM_001408 CELSR2 EXON Missense_R2015K exm80761 1 109810214 [G/C] NM_001408 CELSR2 EXON Missense_P2020A exm80772 1 109810584 [A/G] NM_001408 CELSR2 EXON Missense_V2074I exm80788 1 109811522 [A/G] NM_001408 CELSR2 EXON Missense_D2175N exm80793 1 109811571 [A/G] NM_001408 CELSR2 EXON Missense_R2191H exm80802 1 109811858 [A/G] NM_001408 CELSR2 EXON Missense_R2253H exm80803 1 109811869 [A/G] NM_001408 CELSR2 EXON Missense_G2257R exm80806 1 109812092 [A/G] NM_001408 CELSR2 EXON Missense_V2287I exm80815 1 109812321 [A/G] NM_001408 CELSR2 EXON Missense_S2329N exm1691360 1 109812674 [A/C] NM_001408 CELSR2 EXON Missense_H2409Q exm80829 1 109812712 [G/C] NM_001408 CELSR2 EXON Missense_A2422G exm80852 1 109813620 [T/C] NM_001408 CELSR2 EXON Missense_L2519F exm80857 1 109813891 [A/G] NM_001408 CELSR2 EXON Missense_R2550Q exm80884 1 109815310 [A/T] NM_001408 CELSR2 EXON Missense_D2701E exm80893 1 109815851 [A/G] NM_001408 CELSR2 EXON Missense_S2801N exm80895 1 109815862 [A/G] NM_001408 CELSR2 EXON Missense_G2805R exm80897 1 109815868 [G/C] NM_001408 CELSR2 EXON Missense_P2807A exm80898 1 109815883 [T/C] NM_001408 CELSR2 EXON Missense_R2812W exm80900 1 109815913 [A/G] NM_001408 CELSR2 EXON Missense_G2822R exm80915 1 109816196 [T/C] NM_001408 CELSR2 EXON Missense_P2883L exm-rs12740374 1 109817590 [T/G] NM_001408 CELSR2 EXON Silent exm-rs629301 1 109818306 [T/G] NM_001408 CELSR2 EXON Silent exm-rs646776 1 109818530 [T/C] exm-rs602633 1 109821511 [T/G] exm-rs599839 1 109822166 [A/G] exm2273330 1 109822732 [A/G] NM_001032291,NM_001005290,NM_032636 PSRC1,PSRC1,PSRC1 EXON Silent,Silent,Silent exm80926 1 109822750 [A/G] NM_001032291,NM_001005290,NM_032636 PSRC1,PSRC1,PSRC1 EXON Silent,Missense_L309P,Silent exm1691392 1 109823041 [T/A] NM_001032291,NM_001005290,NM_032636 PSRC1,PSRC1,PSRC1 EXON Missense_K325N,Missense_S292C,Missense_K325N exm80928 1 109823096 [T/C] NM_001032291,NM_001005290,NM_032636 PSRC1,PSRC1,PSRC1 EXON Missense_R307Q,Synonymous_A273A,Missense_R307Q exm80931 1 109823418 [T/C] NM_001032291,NM_001005290,NM_032636 PSRC1,PSRC1,PSRC1 EXON Synonymous_V295V,Missense_A262T,Synonymous_V295V exm80933 1 109823457 [A/T] NM_001032291,NM_001005290,NM_032636 PSRC1,PSRC1,PSRC1 EXON Synonymous_R282R,Nonsense_K249X,Synonymous_R282R exm80934 1 109823458 [T/C] NM_001032291,NM_001005290,NM_032636 PSRC1,PSRC1,PSRC1 EXON Missense_R282Q,Synonymous_S248S,Missense_R282Q exm80936 1 109823488 [T/C] NM_001032291,NM_001005290,NM_032636 PSRC1,PSRC1,PSRC1 EXON Missense_G272D,Synonymous_R238R,Missense_G272D exm80940 1 109823537 [A/G] NM_001032291,NM_001005290,NM_032636 PSRC1,PSRC1,PSRC1 EXON Missense_P256S,Missense_A222V,Missense_P256S exm80941 1 109823551 [A/G] NM_001032291,NM_001005290,NM_032636 PSRC1,PSRC1,PSRC1 EXON Missense_S251L,Silent,Missense_S251L exm80967 1 109824326 [A/G] NM_001032291,NM_001005290,NM_032636 PSRC1,PSRC1,PSRC1 EXON Missense_T145M,Missense_T145M,Missense_T145M exm80969 1 109824353 [T/C] NM_001032291,NM_001005290,NM_032636 PSRC1,PSRC1,PSRC1 EXON Missense_R136Q,Missense_R136Q,Missense_R136Q exm80974 1 109824422 [T/C] NM_001032291,NM_001005290,NM_032636 PSRC1,PSRC1,PSRC1 EXON Missense_R113Q,Missense_R113Q,Missense_R113Q exm80976 1 109824440 [T/C] NM_001032291,NM_001005290,NM_032636 PSRC1,PSRC1,PSRC1 EXON Missense_R107Q,Missense_R107Q,Missense_R107Q exm80977 1 109824444 [A/G] NM_001032291,NM_001005290,NM_032636 PSRC1,PSRC1,PSRC1 EXON Missense_R106C,Missense_R106C,Missense_R106C exm80980 1 109824473 [T/C] NM_001032291,NM_001005290,NM_032636 PSRC1,PSRC1,PSRC1 EXON Missense_R96Q,Missense_R96Q,Missense_R96Q exm80986 1 109824503 [A/G] NM_001032291,NM_001005290,NM_032636 PSRC1,PSRC1,PSRC1 EXON Missense_A86V,Missense_A86V,Missense_A86V exm80990 1 109824576 [A/C] NM_001032291,NM_001005290,NM_032636 PSRC1,PSRC1,PSRC1 EXON Missense_V62L,Missense_V62L,Missense_V62L exm80996 1 109824680 [T/C] NM_001032291,NM_001005290,NM_032636 PSRC1,PSRC1,PSRC1 EXON Missense_R27H,Missense_R27H,Missense_R27H exm81000 1 109825198 [C/G] NM_001032291,NM_001005290,NM_032636 PSRC1,PSRC1,PSRC1 Silent,Silent,Silent exm81004 1 109825360 [T/C] NM_001032291,NM_001005290,NM_032636 PSRC1,PSRC1,PSRC1 Silent,Silent,Silent exm81012 1 109837810 [A/G] NM_001265613,NM_001010985 MYBPHL,MYBPHL EXON Missense_F303S,Missense_F326S exm81015 1 109837826 [A/G] NM_001265613,NM_001010985 MYBPHL,MYBPHL EXON Missense_R298C,Missense_R321C exm81016 1 109837853 [A/G] NM_001265613,NM_001010985 MYBPHL,MYBPHL EXON Missense_H289Y,Missense_H312Y exm81020 1 109838857 [T/C] NM_001265613,NM_001010985 MYBPHL,MYBPHL EXON Missense_R266Q,Missense_R289Q exm81028 1 109838918 [T/C] NM_001265613,NM_001010985 MYBPHL,MYBPHL EXON Missense_D246N,Missense_D269N exm81031 1 109838960 [A/G] NM_001265613,NM_001010985 MYBPHL,MYBPHL EXON Nonsense_R232X,Nonsense_R255X exm81042 1 109839482 [T/C] NM_001265613,NM_001010985 MYBPHL,MYBPHL EXON Missense_R195H,Missense_R218H exm81044 1 109839501 [T/C] NM_001265613,NM_001010985 MYBPHL,MYBPHL EXON Missense_G189S,Missense_G212S exm81046 1 109839519 [T/C] NM_001265613,NM_001010985 MYBPHL,MYBPHL EXON Missense_V183I,Missense_V206I exm81047 1 109839533 [T/C] NM_001265613,NM_001010985 MYBPHL,MYBPHL EXON Missense_R178H,Missense_R201H exm81062 1 109840043 [T/C] NM_001265613,NM_001010985 MYBPHL,MYBPHL Silent,Silent exm81066 1 109840098 [A/G] NM_001265613,NM_001010985 MYBPHL,MYBPHL EXON Silent,Missense_R126C exm81069 1 109840110 [A/G] NM_001265613,NM_001010985 MYBPHL,MYBPHL EXON Silent,Missense_R122C exm81071 1 109840122 [A/C] NM_001265613,NM_001010985 MYBPHL,MYBPHL EXON Missense_A118S,Missense_A118S exm81072 1 109840125 [A/G] NM_001265613,NM_001010985 MYBPHL,MYBPHL EXON Missense_R117C,Missense_R117C exm2275324 1 109840137 [A/G] NM_001265613,NM_001010985 MYBPHL,MYBPHL EXON Nonsense_R113X,Nonsense_R113X exm81076 1 109840169 [T/C] NM_001265613,NM_001010985 MYBPHL,MYBPHL EXON Missense_R102Q,Missense_R102Q exm81082 1 109840832 [A/G] NM_001265613,NM_001010985 MYBPHL,MYBPHL EXON Missense_R65W,Missense_R65W exm81083 1 109840834 [A/G] NM_001265613,NM_001010985 MYBPHL,MYBPHL EXON Missense_I64T,Missense_I64T exm2230720 1 109840852 [C/G] NM_001265613,NM_001010985 MYBPHL,MYBPHL EXON Missense_A58G,Missense_A58G exm81091 1 109849546 [A/G] NM_001265613,NM_001010985 MYBPHL,MYBPHL EXON Missense_A23V,Missense_A23V exm81101 1 109859485 [T/C] NM_002959,NM_001205228 SORT1,SORT1 EXON Missense_S746N,Missense_S609N exm81105 1 109859580 [T/C] NM_002959,NM_001205228 SORT1,SORT1 EXON Synonymous_G714G,Synonymous_G577G exm81112 1 109865630 [T/C] NM_002959,NM_001205228 SORT1,SORT1 EXON Missense_V650M,Missense_V513M exm81122 1 109867673 [A/G] NM_002959,NM_001205228 SORT1,SORT1 EXON Missense_T561M,Missense_T424M exm81135 1 109878893 [T/C] NM_002959,NM_001205228 SORT1,SORT1 EXON Missense_E447G,Missense_E310G exm81136 1 109878903 [C/G] NM_002959,NM_001205228 SORT1,SORT1 EXON Missense_E444Q,Missense_E307Q exm81138 1 109878920 [A/G] NM_002959,NM_001205228 SORT1,SORT1 EXON Missense_T438M,Missense_T301M exm81143 1 109883391 [T/C] NM_002959,NM_001205228 SORT1,SORT1 EXON Missense_V407M,Missense_V270M exm81148 1 109883405 [A/G] NM_002959,NM_001205228 SORT1,SORT1 EXON Missense_T402M,Missense_T265M exm81154 1 109884672 [A/C] NM_002959,NM_001205228 SORT1,SORT1 EXON Missense_D358Y,Missense_D221Y exm81161 1 109888432 [T/C] NM_002959,NM_001205228 SORT1,SORT1 EXON Missense_K302E,Missense_K165E exm81167 1 109897022 [A/C] NM_002959,NM_001205228 SORT1,SORT1 EXON Missense_Q225H,Missense_Q89H exm81172 1 109897119 [T/C] NM_002959,NM_001205228 SORT1,SORT1 EXON Missense_R193H,Missense_R57H exm81178 1 109910100 [T/C] NM_002959,NM_001205228 SORT1,SORT1 EXON Missense_I124V,Silent exm81204 1 109955749 [T/C] NM_002790,NM_001199772,NM_001199773,NM_001199774 PSMA5,PSMA5,PSMA5,PSMA5 EXON Missense_M78V,Missense_M20V,Missense_M20V,Missense_M20V exm-rs1933182 1 109999838 [A/C] exm81229 1 110018267 [A/G] NM_001040709 SYPL2 EXON Missense_R65H exm81231 1 110019415 [A/T] NM_001040709 SYPL2 EXON Missense_Y91F exm81233 1 110019439 [A/G] NM_001040709 SYPL2 EXON Missense_E99G exm81234 1 110019457 [T/C] NM_001040709 SYPL2 EXON Missense_M105T exm81239 1 110019537 [A/G] NM_001040709 SYPL2 EXON Missense_A132T exm81245 1 110019585 [T/C] NM_001040709 SYPL2 EXON Missense_R148C exm81254 1 110020621 [A/G] NM_001040709 SYPL2 EXON Missense_N213S exm81255 1 110022016 [A/G] NM_001040709 SYPL2 EXON Missense_N222S exm81264 1 110026628 [T/G] NM_153340 ATXN7L2 EXON Missense_V18G exm81274 1 110029129 [T/C] NM_153340 ATXN7L2 EXON Synonymous_D65D exm81280 1 110029664 [T/C] NM_153340 ATXN7L2 EXON Missense_R112W exm81284 1 110029764 [T/C] NM_153340 ATXN7L2 EXON Missense_S145F exm81288 1 110030311 [A/C] NM_153340 ATXN7L2 EXON Missense_R195S exm-rs12049330 1 110031188 [T/G] NM_153340 ATXN7L2 Silent exm81301 1 110031610 [T/C] NM_153340 ATXN7L2 EXON Missense_R309C exm81313 1 110032557 [A/G] NM_153340 ATXN7L2 EXON Missense_R348Q exm2249504 1 110032947 [A/C] NM_153340 ATXN7L2 EXON Synonymous_R431R exm81319 1 110032976 [A/C] NM_153340 ATXN7L2 EXON Missense_S440R exm1691576 1 110033585 [A/G] NM_153340 ATXN7L2 EXON Missense_N467S exm81324 1 110033632 [T/C] NM_153340 ATXN7L2 EXON Missense_P483S exm2249505 1 110033736 [A/G] NM_153340 ATXN7L2 EXON Synonymous_A517A exm1691578 1 110033737 [G/C] NM_153340 ATXN7L2 EXON Missense_A518P exm81348 1 110034074 [A/G] NM_153340 ATXN7L2 EXON Missense_R630H exm81352 1 110034107 [A/G] NM_153340 ATXN7L2 EXON Missense_K641R exm81371 1 110036885 [A/G] NM_001134402,NM_001134400,NM_182580,NM_001134404,NM_001134403 CYB561D1,CYB561D1,CYB561D1,CYB561D1,CYB561D1 EXON Silent,Missense_T42A,Missense_T42A,Missense_T42A,Missense_T42A exm81381 1 110038311 [A/G] NM_001134402,NM_001134400,NM_182580,NM_001134404,NM_001134403 CYB561D1,CYB561D1,CYB561D1,CYB561D1,CYB561D1 EXON Silent,Silent,Silent,Missense_S101G,Silent exm81386 1 110038456 [T/C] NM_001134402,NM_001134400,NM_182580,NM_001134404,NM_001134403 CYB561D1,CYB561D1,CYB561D1,CYB561D1,CYB561D1 EXON Missense_R32W,Missense_R111W,Missense_R89W,Silent,Synonymous_H123H exm81387 1 110038462 [T/C] NM_001134402,NM_001134400,NM_182580,NM_001134404,NM_001134403 CYB561D1,CYB561D1,CYB561D1,CYB561D1,CYB561D1 EXON Missense_R34W,Missense_R113W,Missense_R91W,Silent,Synonymous_S125S exm81394 1 110038664 [A/G] NM_001134402,NM_001134400,NM_182580,NM_001134404,NM_001134403 CYB561D1,CYB561D1,CYB561D1,CYB561D1,CYB561D1 EXON Missense_R101K,Missense_R180K,Missense_R158K,Silent,Silent exm81401 1 110038772 [A/T] NM_001134402,NM_001134400,NM_182580,NM_001134404,NM_001134403 CYB561D1,CYB561D1,CYB561D1,CYB561D1,CYB561D1 EXON Missense_I137N,Missense_I216N,Missense_I194N,Silent,Silent exm1691597 1 110038787 [C/G] NM_001134402,NM_001134400,NM_182580,NM_001134404,NM_001134403 CYB561D1,CYB561D1,CYB561D1,CYB561D1,CYB561D1 EXON Missense_W142S,Missense_W221S,Missense_W199S,Silent,Silent exm81406 1 110038817 [T/C] NM_001134402,NM_001134400,NM_182580,NM_001134404,NM_001134403 CYB561D1,CYB561D1,CYB561D1,CYB561D1,CYB561D1 EXON Missense_P152L,Missense_P231L,Missense_P209L,Silent,Silent exm81413 1 110050153 [T/A] NM_020703 AMIGO1 EXON Missense_N461I exm81414 1 110050180 [T/C] NM_020703 AMIGO1 EXON Missense_G452D exm81417 1 110050250 [A/C] NM_020703 AMIGO1 EXON Missense_A429S exm81421 1 110050334 [A/G] NM_020703 AMIGO1 EXON Missense_R401W exm81423 1 110050504 [A/G] NM_020703 AMIGO1 EXON Missense_M344T exm81446 1 110051449 [T/C] NM_020703 AMIGO1 EXON Missense_R29Q exm81447 1 110051462 [T/C] NM_020703 AMIGO1 EXON Missense_A25T exm2265035 1 110078434 [A/G] exm-rs7550711 1 110082886 [T/C] NM_031936 GPR61 Silent exm81457 1 110085837 [A/G] NM_031936 GPR61 EXON Missense_A65T exm81467 1 110086074 [A/G] NM_031936 GPR61 EXON Missense_V144I exm81478 1 110086371 [A/G] NM_031936 GPR61 EXON Missense_G243R exm81500 1 110086689 [T/C] NM_031936 GPR61 EXON Missense_R349W exm81524 1 110116624 [T/C] NM_006496 GNAI3 EXON Missense_R90W exm81525 1 110116625 [A/G] NM_006496 GNAI3 EXON Missense_R90Q exm-rs6537837 1 110119732 [T/C] NM_006496 GNAI3 Silent exm81531 1 110121922 [A/G] NM_006496 GNAI3 EXON Missense_G134S exm81533 1 110125106 [T/C] NM_006496 GNAI3 EXON Missense_T170I exm81539 1 110129420 [A/G] NM_006496 GNAI3 EXON Missense_I264V exm2249509 1 110134777 [A/G] NM_006496 GNAI3 EXON Synonymous_T329T exm81559 1 110146110 [T/C] NM_005272 GNAT2 EXON Missense_N311D exm81560 1 110146113 [A/G] NM_005272 GNAT2 EXON Missense_L310F exm81581 1 110151287 [T/C] NM_005272 GNAT2 EXON Missense_A143T exm81585 1 110151365 [T/C] NM_005272 GNAT2 EXON Missense_G117R exm81589 1 110151395 [T/G] NM_005272 GNAT2 EXON Missense_L107I exm81595 1 110152708 [T/C] NM_005272 GNAT2 EXON Missense_R86Q exm81603 1 110155479 [A/G] NM_005272 GNAT2 EXON Missense_A5V exm81619 1 110163879 [A/G] NM_001257360,NM_139156,NM_004037 AMPD2,AMPD2,AMPD2 EXON Missense_A82T,Silent,Missense_A82T exm1691817 1 110169371 [T/G] NM_001257360,NM_139156,NM_004037,NM_001257361,NM_203404 AMPD2,AMPD2,AMPD2,AMPD2,AMPD2 EXON Missense_D239E,Missense_D158E,Missense_D239E,Missense_D121E,Missense_D120E exm81658 1 110169818 [T/C] NM_001257360,NM_139156,NM_004037,NM_001257361,NM_203404 AMPD2,AMPD2,AMPD2,AMPD2,AMPD2 EXON Missense_A301V,Missense_A220V,Missense_A301V,Missense_A183V,Missense_A182V exm2249512 1 110169834 [A/G] NM_001257360,NM_139156,NM_004037,NM_001257361,NM_203404 AMPD2,AMPD2,AMPD2,AMPD2,AMPD2 EXON Synonymous_P306P,Synonymous_P225P,Synonymous_P306P,Synonymous_P188P,Synonymous_P187P exm81661 1 110169868 [A/G] NM_001257360,NM_139156,NM_004037,NM_001257361,NM_203404 AMPD2,AMPD2,AMPD2,AMPD2,AMPD2 EXON Missense_D318N,Missense_D237N,Missense_D318N,Missense_D200N,Missense_D199N exm81663 1 110169896 [A/G] NM_001257360,NM_139156,NM_004037,NM_001257361,NM_203404 AMPD2,AMPD2,AMPD2,AMPD2,AMPD2 EXON Missense_R327Q,Missense_R246Q,Missense_R327Q,Missense_R209Q,Missense_R208Q exm81730 1 110172440 [C/G] NM_001257360,NM_139156,NM_004037,NM_001257361,NM_203404 AMPD2,AMPD2,AMPD2,AMPD2,AMPD2 EXON Missense_V683L,Missense_V602L,Missense_V683L,Missense_V565L,Missense_V564L exm2249514 1 110172995 [T/C] NM_001257360,NM_139156,NM_004037,NM_001257361,NM_203404 AMPD2,AMPD2,AMPD2,AMPD2,AMPD2 EXON Synonymous_S762S,Synonymous_S681S,Synonymous_S762S,Synonymous_S644S,Synonymous_S643S exm81739 1 110172995 [T/C] NM_001257360,NM_139156,NM_004037,NM_001257361,NM_203404 AMPD2,AMPD2,AMPD2,AMPD2,AMPD2 EXON Synonymous_S762S,Synonymous_S681S,Synonymous_S762S,Synonymous_S644S,Synonymous_S643S exm81780 1 110200445 [G/C] NM_000850,NR_024538,NM_147148 GSTM4,GSTM4,GSTM4 EXON Missense_A104G,Silent,Missense_A104G exm81787 1 110201643 [A/G] NM_000850,NR_024538,NM_147148 GSTM4,GSTM4,GSTM4 EXON Missense_A160T,Silent,Missense_A160T exm81798 1 110203823 [T/C] NM_000850,NR_024538,NM_147148 GSTM4,GSTM4,GSTM4 EXON Missense_R202C,Silent,Silent exm81803 1 110203853 [A/G] NM_000850,NR_024538,NM_147148 GSTM4,GSTM4,GSTM4 EXON Missense_V212M,Silent,Silent exm1692076 1 110210740 [A/G] NM_001142368,NM_000848 GSTM2,GSTM2 EXON Missense_M1I,Missense_M1I exm81836 1 110212120 [A/G] NM_001142368,NM_000848 GSTM2,GSTM2 EXON Missense_R96H,Missense_R96H exm81844 1 110214116 [A/G] NM_001142368,NM_000848 GSTM2,GSTM2 EXON Missense_A160T,Missense_A160T exm81845 1 110214120 [A/G] NM_001142368,NM_000848 GSTM2,GSTM2 EXON Missense_Y161C,Missense_Y161C exm2230743 1 110233104 [T/A] NM_146421,NM_000561 GSTM1,GSTM1 EXON Silent,Missense_D162V exm81898 1 110233115 [A/C] NM_146421,NM_000561 GSTM1,GSTM1 EXON Silent,Missense_L166I exm-rs1056806 1 110233147 [T/C] NM_146421,NM_000561 GSTM1,GSTM1 EXON Silent,Synonymous_D176D exm81964 1 110256344 [C/G] NM_000851 GSTM5 EXON Missense_N107K exm81966 1 110256364 [A/T] NM_000851 GSTM5 EXON Missense_L114Q exm81979 1 110257814 [C/G] NM_000851 GSTM5 EXON Missense_K173N exm81994 1 110260004 [T/C] NM_000851 GSTM5 EXON Nonsense_R205X exm81997 1 110260040 [A/G] NM_000851 GSTM5 EXON Missense_S217G exm81999 1 110279701 [T/C] NR_024537,NM_000849 GSTM3,GSTM3 EXON Silent,Missense_V224I exm1692455 1 110280751 [A/G] NR_024537,NM_000849 GSTM3,GSTM3 EXON Silent,Missense_R112C exm82022 1 110280921 [T/C] NR_024537,NM_000849 GSTM3,GSTM3 EXON Silent,Missense_R86H exm82029 1 110282482 [T/C] NR_024537,NM_000849 GSTM3,GSTM3 EXON Silent,Missense_E33K exm82031 1 110282511 [A/G] NR_024537,NM_000849 GSTM3,GSTM3 EXON Silent,Missense_L23P exm82037 1 110282891 [T/G] NR_024537,NM_000849 GSTM3,GSTM3 EXON Silent,Missense_M7L exm1692490 1 110282909 [T/C] NR_024537,NM_000849 GSTM3,GSTM3 EXON Silent,Missense_M1V exm82048 1 110293310 [T/C] NM_024526,NM_133181,NM_139053 EPS8L3,EPS8L3,EPS8L3 EXON Missense_R551Q,Missense_R581Q,Missense_R582Q exm82057 1 110293386 [T/C] NM_024526,NM_133181,NM_139053 EPS8L3,EPS8L3,EPS8L3 EXON Missense_G526R,Missense_G556R,Missense_G557R exm82058 1 110293388 [A/G] NM_024526,NM_133181,NM_139053 EPS8L3,EPS8L3,EPS8L3 EXON Missense_T525M,Missense_T555M,Missense_T556M exm82063 1 110293943 [T/C] NM_024526,NM_133181,NM_139053 EPS8L3,EPS8L3,EPS8L3 EXON Missense_E502K,Missense_E532K,Missense_E533K exm82070 1 110294356 [A/G] NM_024526,NM_133181,NM_139053 EPS8L3,EPS8L3,EPS8L3 EXON Missense_R465W,Missense_R495W,Missense_R496W exm82072 1 110294385 [T/C] NM_024526,NM_133181,NM_139053 EPS8L3,EPS8L3,EPS8L3 EXON Missense_R455Q,Missense_R485Q,Missense_R486Q exm82095 1 110299677 [T/G] NM_024526,NM_133181,NM_139053 EPS8L3,EPS8L3,EPS8L3 EXON Missense_N360K,Missense_N360K,Missense_N361K exm82097 1 110299691 [A/G] NM_024526,NM_133181,NM_139053 EPS8L3,EPS8L3,EPS8L3 EXON Missense_P356S,Missense_P356S,Missense_P357S exm82107 1 110300441 [A/G] NM_024526,NM_133181,NM_139053 EPS8L3,EPS8L3,EPS8L3 EXON Missense_H293Y,Missense_H293Y,Missense_H294Y exm82117 1 110301012 [T/C] NM_024526,NM_133181,NM_139053 EPS8L3,EPS8L3,EPS8L3 EXON Missense_A215T,Missense_A215T,Missense_A216T exm82118 1 110301023 [T/C] NM_024526,NM_133181,NM_139053 EPS8L3,EPS8L3,EPS8L3 EXON Missense_R211H,Missense_R211H,Missense_R212H exm1692589 1 110301254 [T/C] NM_024526,NM_133181,NM_139053 EPS8L3,EPS8L3,EPS8L3 EXON Missense_D165N,Missense_D165N,Missense_D166N exm82125 1 110301260 [T/C] NM_024526,NM_133181,NM_139053 EPS8L3,EPS8L3,EPS8L3 EXON Missense_G163S,Missense_G163S,Missense_G164S exm1692598 1 110301709 [T/C] NM_024526,NM_133181,NM_139053 EPS8L3,EPS8L3,EPS8L3 EXON Missense_A146T,Missense_A146T,Missense_A146T exm82130 1 110301919 [T/C] NM_024526,NM_133181,NM_139053 EPS8L3,EPS8L3,EPS8L3 EXON Missense_V116M,Missense_V116M,Missense_V116M exm82132 1 110301983 [G/C] NM_024526,NM_133181,NM_139053 EPS8L3,EPS8L3,EPS8L3 EXON Missense_D94E,Missense_D94E,Missense_D94E exm82133 1 110301991 [A/G] NM_024526,NM_133181,NM_139053 EPS8L3,EPS8L3,EPS8L3 EXON Missense_R92C,Missense_R92C,Missense_R92C exm82145 1 110302450 [T/C] NM_024526,NM_133181,NM_139053 EPS8L3,EPS8L3,EPS8L3 EXON Missense_M35I,Missense_M35I,Missense_M35I exm2264888 1 110346355 [A/G] exm-rs10494112 1 110352477 [A/G] exm-rs484959 1 110366083 [T/C] exm82166 1 110460068 [T/A] NM_000757,NM_172212,NM_172210,NM_172211 CSF1,CSF1,CSF1,CSF1 EXON Missense_Y127N,Missense_Y127N,Missense_Y127N,Missense_Y127N exm82172 1 110465836 [G/C] NM_000757,NM_172212,NM_172210,NM_172211 CSF1,CSF1,CSF1,CSF1 EXON Missense_P198R,Missense_P198R,Missense_P198R,Silent exm82173 1 110465848 [T/C] NM_000757,NM_172212,NM_172210,NM_172211 CSF1,CSF1,CSF1,CSF1 EXON Missense_P202L,Missense_P202L,Missense_P202L,Silent exm82175 1 110465874 [T/C] NM_000757,NM_172212,NM_172210,NM_172211 CSF1,CSF1,CSF1,CSF1 EXON Missense_L211F,Missense_L211F,Missense_L211F,Silent exm82177 1 110465887 [T/C] NM_000757,NM_172212,NM_172210,NM_172211 CSF1,CSF1,CSF1,CSF1 EXON Missense_M215T,Missense_M215T,Missense_M215T,Silent exm82185 1 110466087 [A/C] NM_000757,NM_172212,NM_172210,NM_172211 CSF1,CSF1,CSF1,CSF1 EXON Missense_P282T,Missense_P282T,Missense_P282T,Silent exm82197 1 110466265 [A/G] NM_000757,NM_172212,NM_172210,NM_172211 CSF1,CSF1,CSF1,CSF1 EXON Missense_S341N,Missense_S341N,Missense_S341N,Silent exm82202 1 110466339 [A/G] NM_000757,NM_172212,NM_172210,NM_172211 CSF1,CSF1,CSF1,CSF1 EXON Missense_A366T,Missense_A366T,Silent,Silent exm82211 1 110466466 [T/C] NM_000757,NM_172212,NM_172210,NM_172211 CSF1,CSF1,CSF1,CSF1 EXON Missense_L408P,Missense_L408P,Silent,Silent exm82214 1 110466535 [T/C] NM_000757,NM_172212,NM_172210,NM_172211 CSF1,CSF1,CSF1,CSF1 EXON Missense_S431L,Missense_S431L,Silent,Silent exm82215 1 110466543 [G/C] NM_000757,NM_172212,NM_172210,NM_172211 CSF1,CSF1,CSF1,CSF1 EXON Missense_V434L,Missense_V434L,Silent,Silent exm82217 1 110466555 [A/G] NM_000757,NM_172212,NM_172210,NM_172211 CSF1,CSF1,CSF1,CSF1 EXON Missense_G438R,Missense_G438R,Silent,Silent exm82225 1 110466709 [T/C] NM_000757,NM_172212,NM_172210,NM_172211 CSF1,CSF1,CSF1,CSF1 EXON Missense_F489S,Missense_F489S,Missense_F373S,Missense_F191S exm82239 1 110467420 [T/C] NM_000757,NM_172212,NM_172210,NM_172211 CSF1,CSF1,CSF1,CSF1 EXON Missense_A531V,Missense_A531V,Missense_A415V,Missense_A233V exm82264 1 110555081 [A/G] NM_001242673,NM_006621,NM_001242674,NM_001242676,NM_001242675 AHCYL1,AHCYL1,AHCYL1,AHCYL1,AHCYL1 EXON Synonymous_T111T,Synonymous_T158T,Synonymous_T111T,Synonymous_T111T,Synonymous_T111T exm82275 1 110559005 [A/G] NM_001242673,NM_006621,NM_001242674,NM_001242676,NM_001242675 AHCYL1,AHCYL1,AHCYL1,AHCYL1,AHCYL1 EXON Synonymous_P227P,Synonymous_P274P,Synonymous_P227P,Synonymous_P227P,Synonymous_P227P exm82282 1 110561024 [T/C] NM_001242673,NM_006621,NM_001242674,NM_001242676,NM_001242675 AHCYL1,AHCYL1,AHCYL1,AHCYL1,AHCYL1 EXON Synonymous_L338L,Synonymous_L385L,Synonymous_L338L,Synonymous_L338L,Synonymous_L338L exm1693090 1 110581371 [A/G] NM_001270768,NR_073071,NM_033088 STRIP1,STRIP1,STRIP1 EXON Missense_R11Q,Silent,Missense_R106Q exm1693094 1 110582038 [T/C] NM_001270768,NR_073071,NM_033088 STRIP1,STRIP1,STRIP1 EXON Missense_S66L,Silent,Missense_S161L exm82335 1 110582104 [A/G] NM_001270768,NR_073071,NM_033088 STRIP1,STRIP1,STRIP1 EXON Missense_N88S,Silent,Missense_N183S exm82341 1 110584374 [A/G] NM_001270768,NR_073071,NM_033088 STRIP1,STRIP1,STRIP1 EXON Missense_N164S,Silent,Missense_N259S exm82357 1 110586288 [A/G] NM_001270768,NR_073071,NM_033088 STRIP1,STRIP1,STRIP1 EXON Missense_A271T,Silent,Missense_A366T exm1693173 1 110593581 [T/G] NM_001270768,NR_073071,NM_033088 STRIP1,STRIP1,STRIP1 EXON Missense_A559S,Silent,Missense_A654S exm82405 1 110596358 [A/G] NM_001270768,NR_073071,NM_033088 STRIP1,STRIP1,STRIP1 EXON Missense_A685T,Silent,Missense_A780T exm82411 1 110596504 [C/G] NM_001270768,NR_073071,NM_033088 STRIP1,STRIP1,STRIP1 EXON Missense_K733N,Silent,Missense_K828N exm82426 1 110603639 [G/C] NM_006492 ALX3 EXON Missense_P250A exm82430 1 110604076 [T/C] NM_006492 ALX3 EXON Missense_R235H exm82436 1 110604142 [T/C] NM_006492 ALX3 EXON Missense_R213H exm82459 1 110655189 [G/C] NM_203412 UBL4B EXON Missense_Q11H exm82462 1 110655230 [T/C] NM_203412 UBL4B EXON Missense_T25M exm82474 1 110655518 [A/G] NM_203412 UBL4B EXON Missense_R121H exm82478 1 110655572 [G/C] NM_203412 UBL4B EXON Missense_A139G exm82481 1 110655587 [A/T] NM_203412 UBL4B EXON Missense_V144E exm82486 1 110655616 [A/G] NM_203412 UBL4B EXON Missense_A154T exm-rs877068 1 110698045 [T/C] NM_001010898 SLC6A17 Silent exm82504 1 110709720 [A/G] NM_001010898 SLC6A17 EXON Missense_A57T exm82510 1 110714819 [A/G] NM_001010898 SLC6A17 EXON Missense_I142V exm1693329 1 110717526 [A/G] NM_001010898 SLC6A17 EXON Missense_V233M exm82529 1 110734834 [A/G] NM_001010898 SLC6A17 EXON Missense_E369K exm82532 1 110735195 [A/G] NM_001010898 SLC6A17 EXON Missense_V392I exm82539 1 110737204 [A/G] NM_001010898 SLC6A17 EXON Missense_V435M exm82551 1 110738300 [A/C] NM_001010898 SLC6A17 EXON Missense_T529P exm82556 1 110740129 [A/G] NM_001010898 SLC6A17 EXON Missense_V575M exm82557 1 110740146 [A/G] NM_001010898 SLC6A17 EXON Missense_M580I exm82562 1 110740169 [T/G] NM_001010898 SLC6A17 EXON Missense_I588S exm82563 1 110740187 [T/C] NM_001010898 SLC6A17 EXON Missense_T594M exm82570 1 110740791 [A/G] NM_001010898 SLC6A17 EXON Missense_V637I exm82575 1 110740918 [A/G] NM_001010898 SLC6A17 EXON Missense_K679R exm82577 1 110740935 [T/C] NM_001010898 SLC6A17 EXON Missense_P685S exm82583 1 110741016 [T/C] NM_001010898 SLC6A17 EXON Missense_R712C exm82614 1 110765691 [T/C] NM_001039574,NM_004978,NR_036437 KCNC4,KCNC4,KCNC4 EXON Missense_R262C,Missense_R262C,Silent exm82619 1 110765712 [A/G] NM_001039574,NM_004978,NR_036437 KCNC4,KCNC4,KCNC4 EXON Missense_V269M,Missense_V269M,Silent exm82621 1 110765741 [T/G] NM_001039574,NM_004978,NR_036437 KCNC4,KCNC4,KCNC4 EXON Missense_E278D,Missense_E278D,Silent exm82623 1 110765766 [A/G] NM_001039574,NM_004978,NR_036437 KCNC4,KCNC4,KCNC4 EXON Missense_V287I,Missense_V287I,Silent exm82626 1 110765835 [A/G] NM_001039574,NM_004978,NR_036437 KCNC4,KCNC4,KCNC4 EXON Missense_V310I,Missense_V310I,Silent exm82628 1 110765925 [T/C] NM_001039574,NM_004978,NR_036437 KCNC4,KCNC4,KCNC4 EXON Missense_R340C,Missense_R340C,Silent exm82649 1 110766454 [A/G] NM_001039574,NM_004978,NR_036437 KCNC4,KCNC4,KCNC4 EXON Missense_R516Q,Missense_R516Q,Silent exm82650 1 110766466 [A/G] NM_001039574,NM_004978,NR_036437 KCNC4,KCNC4,KCNC4 EXON Missense_C520Y,Missense_C520Y,Silent exm82652 1 110766477 [A/G] NM_001039574,NM_004978,NR_036437 KCNC4,KCNC4,KCNC4 EXON Missense_S524G,Missense_S524G,Silent exm82655 1 110766490 [A/G] NM_001039574,NM_004978,NR_036437 KCNC4,KCNC4,KCNC4 EXON Missense_R528Q,Missense_R528Q,Silent exm82658 1 110768602 [A/G] NM_001039574,NM_004978,NR_036437 KCNC4,KCNC4,KCNC4 EXON Missense_K541E,Missense_K541E,Silent exm82661 1 110768681 [T/C] NM_001039574,NM_004978,NR_036437 KCNC4,KCNC4,KCNC4 EXON Missense_T567I,Missense_T567I,Silent exm82667 1 110768710 [T/C] NM_001039574,NM_004978,NR_036437 KCNC4,KCNC4,KCNC4 EXON Missense_S577P,Missense_S577P,Silent exm-rs958798 1 110770223 [T/G] NM_001039574,NM_004978,NR_036437 KCNC4,KCNC4,KCNC4 Silent,Silent,Silent exm2249550 1 110847884 [A/G] NR_036595 LOC440600 Silent exm1694106 1 110882052 [A/G] NM_022768,NM_001201545 RBM15,RBM15 EXON Missense_V9M,Missense_V9M exm82691 1 110882103 [A/G] NM_022768,NM_001201545 RBM15,RBM15 EXON Missense_S26G,Missense_S26G exm1694108 1 110882116 [A/G] NM_022768,NM_001201545 RBM15,RBM15 EXON Missense_R30Q,Missense_R30Q exm2273675 1 110882221 [G/C] NM_022768,NM_001201545 RBM15,RBM15 EXON Missense_T65S,Missense_T65S exm82710 1 110882499 [T/G] NM_022768,NM_001201545 RBM15,RBM15 EXON Missense_S158A,Missense_S158A exm82713 1 110882536 [A/G] NM_022768,NM_001201545 RBM15,RBM15 EXON Missense_K170R,Missense_K170R exm82734 1 110883034 [A/G] NM_022768,NM_001201545 RBM15,RBM15 EXON Missense_Y336C,Missense_Y336C exm82757 1 110883697 [T/C] NM_022768,NM_001201545 RBM15,RBM15 EXON Missense_A557V,Missense_A557V exm82765 1 110883852 [A/G] NM_022768,NM_001201545 RBM15,RBM15 EXON Missense_E609K,Missense_E609K exm82770 1 110884030 [T/C] NM_022768,NM_001201545 RBM15,RBM15 EXON Missense_A668V,Missense_A668V exm82797 1 110888948 [A/G] NM_022768,NM_001201545 RBM15,RBM15 EXON Silent,Missense_R961Q exm82801 1 110906406 [T/C] NM_001201549,NM_001201546,NM_001201547,NM_004696,NM_001201548 SLC16A4,SLC16A4,SLC16A4,SLC16A4,SLC16A4 EXON Nonsense_W314X,Nonsense_W434X,Nonsense_W420X,Nonsense_W482X,Missense_G379E exm82803 1 110906471 [A/G] NM_001201549,NM_001201546,NM_001201547,NM_004696,NM_001201548 SLC16A4,SLC16A4,SLC16A4,SLC16A4,SLC16A4 EXON Missense_F293L,Missense_F413L,Missense_F399L,Missense_F461L,Synonymous_T357T exm82804 1 110918082 [A/G] NM_001201549,NM_001201546,NM_001201547,NM_004696,NM_001201548 SLC16A4,SLC16A4,SLC16A4,SLC16A4,SLC16A4 EXON Missense_A277V,Missense_A397V,Missense_A383V,Missense_A445V,Missense_A335V exm82814 1 110919703 [A/C] NM_001201549,NM_001201546,NM_001201547,NM_004696,NM_001201548 SLC16A4,SLC16A4,SLC16A4,SLC16A4,SLC16A4 EXON Missense_S203A,Missense_S323A,Missense_S309A,Missense_S371A,Missense_S261A exm82817 1 110919771 [A/G] NM_001201549,NM_001201546,NM_001201547,NM_004696,NM_001201548 SLC16A4,SLC16A4,SLC16A4,SLC16A4,SLC16A4 EXON Missense_T180M,Missense_T300M,Missense_T286M,Missense_T348M,Missense_T238M exm82825 1 110921715 [T/G] NM_001201549,NM_001201546,NM_001201547,NM_004696,NM_001201548 SLC16A4,SLC16A4,SLC16A4,SLC16A4,SLC16A4 EXON Silent,Missense_N216H,Missense_N202H,Missense_N264H,Missense_N154H exm82829 1 110921780 [A/G] NM_001201549,NM_001201546,NM_001201547,NM_004696,NM_001201548 SLC16A4,SLC16A4,SLC16A4,SLC16A4,SLC16A4 EXON Silent,Missense_T194M,Missense_T180M,Missense_T242M,Missense_T132M exm82831 1 110921792 [T/A] NM_001201549,NM_001201546,NM_001201547,NM_004696,NM_001201548 SLC16A4,SLC16A4,SLC16A4,SLC16A4,SLC16A4 EXON Silent,Missense_K190M,Missense_K176M,Missense_K238M,Missense_K128M exm82834 1 110921843 [T/G] NM_001201549,NM_001201546,NM_001201547,NM_004696,NM_001201548 SLC16A4,SLC16A4,SLC16A4,SLC16A4,SLC16A4 EXON Silent,Missense_E173A,Missense_E159A,Missense_E221A,Missense_E111A exm82838 1 110921952 [T/C] NM_001201549,NM_001201546,NM_001201547,NM_004696,NM_001201548 SLC16A4,SLC16A4,SLC16A4,SLC16A4,SLC16A4 EXON Silent,Missense_A137T,Missense_A123T,Missense_A185T,Missense_A75T exm82852 1 110924406 [A/C] NM_001201549,NM_001201546,NM_001201547,NM_004696,NM_001201548 SLC16A4,SLC16A4,SLC16A4,SLC16A4,SLC16A4 EXON Missense_A78S,Silent,Missense_A16S,Missense_A78S,Silent exm82856 1 110925501 [A/T] NM_001201549,NM_001201546,NM_001201547,NM_004696,NM_001201548 SLC16A4,SLC16A4,SLC16A4,SLC16A4,SLC16A4 EXON Missense_I59F,Missense_I59F,Silent,Missense_I59F,Silent exm1694202 1 110946580 [A/G] NM_006402 LAMTOR5 EXON Missense_P141L exm82871 1 110946636 [G/C] NM_006402 LAMTOR5 EXON Missense_E122D exm82881 1 110950259 [T/C] NM_006402 LAMTOR5 EXON Missense_E77G exm82883 1 110950277 [A/G] NM_006402 LAMTOR5 EXON Missense_P71L exm82888 1 110950295 [A/C] NM_006402 LAMTOR5 EXON Missense_G65V exm82890 1 110950313 [A/G] NM_006402 LAMTOR5 EXON Missense_V59A exm82893 1 110950355 [A/G] NM_006402 LAMTOR5 EXON Missense_P45L exm2230767 1 110950386 [T/G] NM_006402 LAMTOR5 EXON Missense_R35S exm82895 1 110950439 [T/C] NM_006402 LAMTOR5 EXON Missense_S17N exm82901 1 110950485 [T/C] NM_006402 LAMTOR5 EXON Missense_E2K exm1694244 1 110993852 [A/C] NM_032414 PROK1 EXON Missense_T5K exm82905 1 110993866 [A/C] NM_032414 PROK1 EXON Missense_M10L exm82908 1 110996584 [A/C] NM_032414 PROK1 EXON Missense_A25D exm82909 1 110996620 [A/G] NM_032414 PROK1 EXON Missense_C37Y exm82912 1 110996652 [T/C] NM_032414 PROK1 EXON Missense_R48W exm82915 1 110996673 [A/C] NM_032414 PROK1 EXON Synonymous_R55R exm82918 1 110996698 [G/C] NM_032414 PROK1 EXON Missense_G63A exm82919 1 110998854 [A/G] NM_032414 PROK1 EXON Missense_V67I exm82921 1 110998939 [A/G] NM_032414 PROK1 EXON Missense_R95H exm82930 1 111059908 [T/C] NM_005549 KCNA10 EXON Missense_N501S exm82932 1 111059966 [T/C] NM_005549 KCNA10 EXON Missense_R482G exm82934 1 111060013 [T/C] NM_005549 KCNA10 EXON Missense_R466Q exm82941 1 111060153 [T/C] NM_005549 KCNA10 EXON Missense_M419I exm82944 1 111060247 [A/G] NM_005549 KCNA10 EXON Missense_L388P exm82946 1 111060292 [T/C] NM_005549 KCNA10 EXON Missense_R373Q exm82958 1 111060346 [A/G] NM_005549 KCNA10 EXON Missense_S355L exm82974 1 111060617 [T/A] NM_005549 KCNA10 EXON Missense_T265S exm82976 1 111060626 [C/G] NM_005549 KCNA10 EXON Missense_L262V exm82983 1 111060752 [T/C] NM_005549 KCNA10 EXON Missense_V220M exm82993 1 111060922 [T/G] NM_005549 KCNA10 EXON Missense_A163D exm82994 1 111060935 [T/C] NM_005549 KCNA10 EXON Missense_I159V exm82996 1 111060953 [A/G] NM_005549 KCNA10 EXON Missense_R153C exm1694411 1 111061066 [T/C] NM_005549 KCNA10 EXON Missense_R115Q exm83006 1 111061136 [T/C] NM_005549 KCNA10 EXON Missense_I92V exm83009 1 111061161 [T/G] NM_005549 KCNA10 EXON Missense_E83D exm83012 1 111061194 [G/C] NM_005549 KCNA10 EXON Missense_D72E exm1694415 1 111061270 [A/G] NM_005549 KCNA10 EXON Missense_S47F exm83022 1 111061330 [T/C] NM_005549 KCNA10 EXON Missense_G27D exm83023 1 111061360 [T/C] NM_005549 KCNA10 EXON Missense_D17G exm-rs4839069 1 111137811 [A/G] NM_001204269 KCNA2 Silent exm2259694 1 111171378 [T/C] NM_001204269 KCNA2 Silent exm83089 1 111216792 [A/G] NM_002232 KCNA3 EXON Missense_R214C exm83095 1 111217028 [A/C] NM_002232 KCNA3 EXON Missense_R135L exm-rs12061304 1 111237685 [A/G] exm2268738 1 111369934 [T/C] exm83120 1 111434034 [A/G] NM_001040033,NM_000560 CD53,CD53 EXON Missense_G2S,Missense_G2S exm83132 1 111436989 [A/C] NM_001040033,NM_000560 CD53,CD53 EXON Missense_T98N,Missense_T98N exm83148 1 111439345 [A/G] NM_001040033,NM_000560 CD53,CD53 EXON Missense_R165Q,Missense_R165Q exm83165 1 111490670 [A/G] NM_001006945,NM_018372 LRIF1,LRIF1 EXON Nonsense_R205X,Nonsense_R741X exm1695394 1 111490672 [A/G] NM_001006945,NM_018372 LRIF1,LRIF1 EXON Missense_I204T,Missense_I740T exm83166 1 111490690 [A/G] NM_001006945,NM_018372 LRIF1,LRIF1 EXON Missense_P198L,Missense_P734L exm83171 1 111490837 [T/C] NM_001006945,NM_018372 LRIF1,LRIF1 EXON Missense_S149N,Missense_S685N exm83172 1 111490850 [T/G] NM_001006945,NM_018372 LRIF1,LRIF1 EXON Missense_L145I,Missense_L681I exm83180 1 111492507 [A/G] NM_001006945,NM_018372 LRIF1,LRIF1 EXON Missense_T76I,Missense_T612I exm83183 1 111492547 [A/G] NM_001006945,NM_018372 LRIF1,LRIF1 EXON Missense_S63P,Missense_S599P exm1695405 1 111494092 [A/C] NM_001006945,NM_018372 LRIF1,LRIF1 EXON Silent,Missense_L472V exm83204 1 111494194 [T/C] NM_001006945,NM_018372 LRIF1,LRIF1 EXON Silent,Missense_A438T exm83206 1 111494287 [T/G] NM_001006945,NM_018372 LRIF1,LRIF1 EXON Silent,Missense_I407L exm83244 1 111660846 [A/G] NM_178454 DRAM2 EXON Missense_L246P exm83250 1 111661488 [C/G] NM_178454 DRAM2 EXON Missense_A211G exm83255 1 111663161 [T/C] NM_178454 DRAM2 EXON Nonsense_W165X exm83260 1 111663308 [A/G] NM_178454 DRAM2 EXON Missense_T116I exm83261 1 111667381 [T/C] NM_178454 DRAM2 EXON Missense_I108V exm83282 1 111690455 [T/C] NM_001007794,NM_006090 CEPT1,CEPT1 EXON Missense_T40I,Missense_T40I exm83289 1 111702020 [A/G] NM_001007794,NM_006090 CEPT1,CEPT1 EXON Missense_I120V,Missense_I120V exm83305 1 111724915 [T/G] NM_001007794,NM_006090 CEPT1,CEPT1 EXON Missense_V274G,Missense_V274G exm83314 1 111726906 [T/G] NM_001007794,NM_006090 CEPT1,CEPT1 EXON Missense_S409A,Missense_S409A exm83328 1 111730833 [T/C] NM_001271833,NM_024901 DENND2D,DENND2D EXON Missense_R417Q,Missense_R420Q exm83329 1 111730899 [T/G] NM_001271833,NM_024901 DENND2D,DENND2D EXON Missense_A395E,Missense_A398E exm2230779 1 111730966 [A/G] NM_001271833,NM_024901 DENND2D,DENND2D EXON Missense_S373P,Missense_S376P exm83351 1 111737293 [A/G] NM_001271833,NM_024901 DENND2D,DENND2D EXON Missense_S231F,Missense_S234F exm83368 1 111739812 [T/C] NM_001271833,NM_024901 DENND2D,DENND2D EXON Missense_G161S,Missense_G164S exm83370 1 111739856 [T/C] NM_001271833,NM_024901 DENND2D,DENND2D EXON Missense_R146H,Missense_R149H exm1696143 1 111740585 [T/C] NM_001271833,NM_024901 DENND2D,DENND2D EXON Missense_N125S,Missense_N128S exm83383 1 111741349 [A/G] NM_001271833,NM_024901 DENND2D,DENND2D EXON Missense_R84W,Missense_R87W exm83397 1 111743032 [A/C] NM_001271833,NM_024901 DENND2D,DENND2D EXON Silent,Missense_L17R exm1696156 1 111743035 [T/C] NM_001271833,NM_024901 DENND2D,DENND2D EXON Silent,Missense_R16Q exm83398 1 111743036 [A/G] NM_001271833,NM_024901 DENND2D,DENND2D EXON Silent,Nonsense_R16X exm1696207 1 111773462 [T/C] NM_001025197,NM_004000,NM_001025199 CHI3L2,CHI3L2,CHI3L2 EXON Missense_S47P,Missense_S57P,Silent exm83429 1 111773903 [T/C] NM_001025197,NM_004000,NM_001025199 CHI3L2,CHI3L2,CHI3L2 EXON Missense_F96L,Missense_F106L,Missense_F27L exm83432 1 111777529 [A/G] NM_001025197,NM_004000,NM_001025199 CHI3L2,CHI3L2,CHI3L2 EXON Synonymous_G100G,Synonymous_G110G,Synonymous_G31G exm83433 1 111777560 [T/C] NM_001025197,NM_004000,NM_001025199 CHI3L2,CHI3L2,CHI3L2 EXON Missense_R111C,Missense_R121C,Missense_R42C exm83434 1 111777571 [A/C] NM_001025197,NM_004000,NM_001025199 CHI3L2,CHI3L2,CHI3L2 EXON Missense_F114L,Missense_F124L,Missense_F45L exm83435 1 111777575 [A/G] NM_001025197,NM_004000,NM_001025199 CHI3L2,CHI3L2,CHI3L2 EXON Missense_N116D,Missense_N126D,Missense_N47D exm83441 1 111778325 [T/C] NM_001025197,NM_004000,NM_001025199 CHI3L2,CHI3L2,CHI3L2 EXON Missense_A172V,Missense_A182V,Missense_A103V exm83442 1 111778328 [A/G] NM_001025197,NM_004000,NM_001025199 CHI3L2,CHI3L2,CHI3L2 EXON Missense_G173D,Missense_G183D,Missense_G104D exm83444 1 111778330 [A/G] NM_001025197,NM_004000,NM_001025199 CHI3L2,CHI3L2,CHI3L2 EXON Missense_V174I,Missense_V184I,Missense_V105I exm83450 1 111778692 [T/C] NM_001025197,NM_004000,NM_001025199 CHI3L2,CHI3L2,CHI3L2 EXON Missense_W208R,Missense_W218R,Missense_W139R exm1696250 1 111778701 [T/C] NM_001025197,NM_004000,NM_001025199 CHI3L2,CHI3L2,CHI3L2 EXON Missense_P211S,Missense_P221S,Missense_P142S exm83460 1 111781397 [A/C] NM_001025197,NM_004000,NM_001025199 CHI3L2,CHI3L2,CHI3L2 EXON Missense_H244P,Missense_H254P,Missense_H175P exm83465 1 111781504 [A/G] NM_001025197,NM_004000,NM_001025199 CHI3L2,CHI3L2,CHI3L2 EXON Missense_G280R,Missense_G290R,Missense_G211R exm83466 1 111781528 [T/C] NM_001025197,NM_004000,NM_001025199 CHI3L2,CHI3L2,CHI3L2 EXON Missense_S288P,Missense_S298P,Missense_S219P exm83467 1 111781535 [G/C] NM_001025197,NM_004000,NM_001025199 CHI3L2,CHI3L2,CHI3L2 EXON Missense_G290A,Missense_G300A,Missense_G221A exm83469 1 111781555 [G/C] NM_001025197,NM_004000,NM_001025199 CHI3L2,CHI3L2,CHI3L2 Silent,Silent,Silent exm83471 1 111783947 [A/C] NM_001025197,NM_004000,NM_001025199 CHI3L2,CHI3L2,CHI3L2 Silent,Silent,Silent exm83482 1 111784037 [A/G] NM_001025197,NM_004000,NM_001025199 CHI3L2,CHI3L2,CHI3L2 EXON Missense_Y326C,Missense_Y336C,Missense_Y257C exm2230781 1 111784945 [T/C] NM_001025197,NM_004000,NM_001025199 CHI3L2,CHI3L2,CHI3L2 EXON Missense_P368S,Missense_P378S,Missense_P299S exm2263358 1 111854859 [T/C] NM_001040623,NM_001258001,NM_001258003,NM_201653,NM_001258002,NM_001258005,NM_021797,NM_001258004 CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA EXON Silent,Silent,Silent,Missense_R35W,Silent,Silent,Silent,Silent exm83509 1 111854889 [A/G] NM_001040623,NM_001258001,NM_001258003,NM_201653,NM_001258002,NM_001258005,NM_021797,NM_001258004 CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA EXON Silent,Silent,Silent,Missense_N45D,Silent,Silent,Silent,Silent exm83510 1 111854895 [A/G] NM_001040623,NM_001258001,NM_001258003,NM_201653,NM_001258002,NM_001258005,NM_021797,NM_001258004 CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA EXON Silent,Silent,Silent,Missense_D47N,Silent,Silent,Silent,Silent exm83514 1 111854925 [A/G] NM_001040623,NM_001258001,NM_001258003,NM_201653,NM_001258002,NM_001258005,NM_021797,NM_001258004 CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA EXON Silent,Silent,Silent,Missense_A57T,Silent,Silent,Silent,Silent exm83515 1 111854938 [T/G] NM_001040623,NM_001258001,NM_001258003,NM_201653,NM_001258002,NM_001258005,NM_021797,NM_001258004 CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA EXON Silent,Silent,Silent,Missense_R61M,Silent,Silent,Silent,Silent exm-rs2786152 1 111857154 [T/C] NM_001040623,NM_001258001,NM_001258003,NM_201653,NM_001258002,NM_001258005,NM_021797,NM_001258004 CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm83522 1 111857201 [A/G] NM_001040623,NM_001258001,NM_001258003,NM_201653,NM_001258002,NM_001258005,NM_021797,NM_001258004 CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA EXON Silent,Silent,Silent,Nonsense_W99X,Silent,Silent,Silent,Silent exm83523 1 111857208 [A/G] NM_001040623,NM_001258001,NM_001258003,NM_201653,NM_001258002,NM_001258005,NM_021797,NM_001258004 CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA EXON Silent,Silent,Silent,Missense_G102R,Silent,Silent,Silent,Silent exm1696802 1 111857219 [A/G] NM_001040623,NM_001258001,NM_001258003,NM_201653,NM_001258002,NM_001258005,NM_021797,NM_001258004 CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm83529 1 111857951 [A/G] NM_001040623,NM_001258001,NM_001258003,NM_201653,NM_001258002,NM_001258005,NM_021797,NM_001258004 CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA EXON Silent,Missense_K17R,Missense_K17R,Missense_K125R,Silent,Silent,Missense_K17R,Silent exm83536 1 111858053 [T/G] NM_001040623,NM_001258001,NM_001258003,NM_201653,NM_001258002,NM_001258005,NM_021797,NM_001258004 CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA EXON Silent,Missense_V51G,Missense_V51G,Missense_V159G,Silent,Silent,Missense_V51G,Silent exm2230784 1 111860310 [A/G] NM_001040623,NM_001258001,NM_001258003,NM_201653,NM_001258002,NM_001258005,NM_021797,NM_001258004 CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA EXON Missense_R2H,Missense_R55H,Missense_R55H,Missense_R163H,Missense_R2H,Missense_R2H,Missense_R55H,Missense_R2H exm83542 1 111860327 [T/G] NM_001040623,NM_001258001,NM_001258003,NM_201653,NM_001258002,NM_001258005,NM_021797,NM_001258004 CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA EXON Nonsense_E8X,Nonsense_E61X,Nonsense_E61X,Nonsense_E169X,Nonsense_E8X,Nonsense_E8X,Nonsense_E61X,Nonsense_E8X exm83545 1 111860339 [T/A] NM_001040623,NM_001258001,NM_001258003,NM_201653,NM_001258002,NM_001258005,NM_021797,NM_001258004 CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA EXON Missense_I12F,Missense_I65F,Missense_I65F,Missense_I173F,Missense_I12F,Missense_I12F,Missense_I65F,Missense_I12F exm83558 1 111861114 [A/G] NM_001040623,NM_001258001,NM_001258003,NM_201653,NM_001258002,NM_001258005,NM_021797,NM_001258004 CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm1696821 1 111861196 [T/G] NM_001040623,NM_001258001,NM_001258003,NM_201653,NM_001258002,NM_001258005,NM_021797,NM_001258004 CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA EXON Missense_F110V,Missense_F163V,Missense_F163V,Missense_F271V,Missense_F110V,Missense_F110V,Missense_F163V,Missense_F110V exm83565 1 111861217 [A/G] NM_001040623,NM_001258001,NM_001258003,NM_201653,NM_001258002,NM_001258005,NM_021797,NM_001258004 CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA EXON Missense_N117D,Missense_N170D,Missense_N170D,Missense_N278D,Missense_N117D,Missense_N117D,Missense_N170D,Missense_N117D exm83566 1 111861233 [T/C] NM_001040623,NM_001258001,NM_001258003,NM_201653,NM_001258002,NM_001258005,NM_021797,NM_001258004 CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA EXON Missense_A122V,Missense_A175V,Missense_A175V,Missense_A283V,Missense_A122V,Missense_A122V,Missense_A175V,Missense_A122V exm83567 1 111861248 [T/C] NM_001040623,NM_001258001,NM_001258003,NM_201653,NM_001258002,NM_001258005,NM_021797,NM_001258004 CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA EXON Missense_A127V,Missense_A180V,Missense_A180V,Missense_A288V,Missense_A127V,Missense_A127V,Missense_A180V,Missense_A127V exm83570 1 111861268 [A/G] NM_001040623,NM_001258001,NM_001258003,NM_201653,NM_001258002,NM_001258005,NM_021797,NM_001258004 CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA EXON Missense_A134T,Missense_A187T,Missense_A187T,Missense_A295T,Missense_A134T,Missense_A134T,Missense_A187T,Missense_A134T exm83575 1 111861741 [C/G] NM_001040623,NM_001258001,NM_001258003,NM_201653,NM_001258002,NM_001258005,NM_021797,NM_001258004 CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm83577 1 111861776 [A/G] NM_001040623,NM_001258001,NM_001258003,NM_201653,NM_001258002,NM_001258005,NM_021797,NM_001258004 CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA EXON Missense_G156E,Missense_G209E,Missense_G209E,Missense_G317E,Missense_G156E,Missense_G156E,Missense_G209E,Missense_G156E exm83582 1 111861841 [A/G] NM_001040623,NM_001258001,NM_001258003,NM_201653,NM_001258002,NM_001258005,NM_021797,NM_001258004 CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA EXON Missense_I178V,Missense_I231V,Missense_I231V,Missense_I339V,Missense_I178V,Missense_I178V,Missense_I231V,Missense_I178V exm83586 1 111861974 [T/C] NM_001040623,NM_001258001,NM_001258003,NM_201653,NM_001258002,NM_001258005,NM_021797,NM_001258004 CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA EXON Missense_F193S,Missense_F246S,Missense_F246S,Missense_F354S,Missense_F193S,Missense_F193S,Missense_F246S,Missense_F193S exm83588 1 111861982 [A/G] NM_001040623,NM_001258001,NM_001258003,NM_201653,NM_001258002,NM_001258005,NM_021797,NM_001258004 CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA EXON Missense_A196T,Missense_A249T,Missense_A249T,Missense_A357T,Missense_A196T,Missense_A196T,Missense_A249T,Missense_A196T exm83592 1 111862064 [A/G] NM_001040623,NM_001258001,NM_001258003,NM_201653,NM_001258002,NM_001258005,NM_021797,NM_001258004 CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA EXON Missense_K223R,Missense_K276R,Missense_K276R,Missense_K384R,Missense_K223R,Missense_K223R,Missense_K276R,Missense_K223R exm83599 1 111862889 [A/G] NM_001040623,NM_001258001,NM_001258003,NM_201653,NM_001258002,NM_001258005,NM_021797,NM_001258004 CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA EXON Missense_S250N,Missense_S303N,Missense_S303N,Missense_S411N,Missense_S250N,Missense_S250N,Missense_S303N,Missense_S250N exm83601 1 111862903 [A/G] NM_001040623,NM_001258001,NM_001258003,NM_201653,NM_001258002,NM_001258005,NM_021797,NM_001258004 CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA EXON Missense_G255R,Missense_G308R,Missense_G308R,Missense_G416R,Missense_G255R,Missense_G255R,Missense_G308R,Missense_G255R exm83604 1 111862952 [T/G] NM_001040623,NM_001258001,NM_001258003,NM_201653,NM_001258002,NM_001258005,NM_021797,NM_001258004 CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA EXON Missense_V271G,Missense_V324G,Missense_V324G,Missense_V432G,Missense_V271G,Missense_V271G,Missense_V324G,Missense_V271G exm83607 1 111862973 [C/G] NM_001040623,NM_001258001,NM_001258003,NM_201653,NM_001258002,NM_001258005,NM_021797,NM_001258004 CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA EXON Missense_P278R,Missense_P331R,Missense_P331R,Missense_P439R,Missense_P278R,Missense_P278R,Missense_P331R,Missense_P278R exm83611 1 111863034 [C/G] NM_001040623,NM_001258001,NM_001258003,NM_201653,NM_001258002,NM_001258005,NM_021797,NM_001258004 CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA EXON Missense_N298K,Missense_N351K,Missense_N351K,Missense_N459K,Missense_N298K,Missense_N298K,Missense_N351K,Missense_N298K exm83614 1 111863044 [A/G] NM_001040623,NM_001258001,NM_001258003,NM_201653,NM_001258002,NM_001258005,NM_021797,NM_001258004 CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA EXON Missense_G302R,Missense_G355R,Missense_G355R,Missense_G463R,Missense_G302R,Missense_G302R,Missense_G355R,Missense_G302R exm2230788 1 111889283 [C/G] NM_181643 PIFO EXON Missense_F3L exm83620 1 111889294 [A/G] NM_181643 PIFO Silent exm83625 1 111889636 [T/C] NM_181643 PIFO EXON Missense_S42P exm83628 1 111890375 [A/G] NM_181643 PIFO EXON Missense_R80K exm83629 1 111891170 [A/C] NM_181643 PIFO EXON Missense_K97N exm83630 1 111891192 [A/C] NM_181643 PIFO EXON Missense_H105N exm83645 1 111893914 [A/G] NM_181643 PIFO EXON Missense_N181D exm2264890 1 111897335 [A/G] exm83649 1 111957097 [C/G] NM_002557 OVGP1 EXON Missense_E676Q exm83660 1 111957311 [G/C] NM_002557 OVGP1 EXON Missense_H604Q exm83661 1 111957315 [A/G] NM_002557 OVGP1 EXON Missense_T603I exm83663 1 111957370 [C/G] NM_002557 OVGP1 EXON Missense_P585A exm83664 1 111957411 [T/C] NM_002557 OVGP1 EXON Missense_R571H exm83665 1 111957501 [G/C] NM_002557 OVGP1 EXON Missense_S541T exm2230790 1 111957505 [T/C] NM_002557 OVGP1 EXON Missense_V540M exm83667 1 111957517 [T/C] NM_002557 OVGP1 EXON Missense_S536G exm83670 1 111957525 [G/C] NM_002557 OVGP1 EXON Missense_T533S exm83693 1 111957583 [A/G] NM_002557 OVGP1 EXON Missense_Y514H exm83696 1 111957601 [T/C] NM_002557 OVGP1 EXON Missense_T508A exm83697 1 111957613 [T/G] NM_002557 OVGP1 EXON Missense_T504P exm83698 1 111957615 [G/C] NM_002557 OVGP1 EXON Missense_T503S exm83700 1 111957639 [T/G] NM_002557 OVGP1 EXON Missense_T495N exm83702 1 111957688 [T/C] NM_002557 OVGP1 EXON Missense_M479V exm83704 1 111957693 [A/G] NM_002557 OVGP1 EXON Missense_M477T exm83705 1 111957721 [T/C] NM_002557 OVGP1 EXON Missense_G468R exm1697697 1 111957729 [A/G] NM_002557 OVGP1 EXON Missense_V465A exm83711 1 111957879 [A/G] NM_002557 OVGP1 EXON Missense_T415M exm83719 1 111959075 [T/C] NM_002557 OVGP1 EXON Nonsense_W342X exm83724 1 111962256 [T/G] NM_002557 OVGP1 EXON Missense_D332E exm83730 1 111963998 [T/C] NM_002557 OVGP1 EXON Missense_R268H exm83743 1 111965646 [T/C] NM_002557 OVGP1 EXON Missense_A171T exm83754 1 111968024 [A/C] NM_002557 OVGP1 EXON Missense_W100G exm83772 1 111983887 [A/G] NM_024102 WDR77 EXON Missense_L332F exm83782 1 111985362 [A/G] NM_024102 WDR77 EXON Missense_S238F exm83827 1 111996904 [A/G] NM_001688 ATP5F1 EXON Missense_Y50C exm83833 1 111998734 [A/G] NM_001688 ATP5F1 EXON Missense_I84V exm83845 1 112002094 [A/G] NM_001688 ATP5F1 EXON Missense_A177T exm83846 1 112002113 [A/G] NM_001688 ATP5F1 EXON Missense_R183Q exm83853 1 112002187 [C/G] NM_001688 ATP5F1 EXON Missense_R208G exm83861 1 112018657 [A/G] NM_174896 C1orf162 EXON Missense_G3S exm1697903 1 112019467 [T/C] NM_174896 C1orf162 EXON Missense_P29S exm83872 1 112020320 [A/G] NM_174896 C1orf162 EXON Missense_V84I exm83880 1 112020645 [A/C] NM_174896 C1orf162 EXON Missense_T123K exm2230799 1 112020683 [A/G] NM_174896 C1orf162 EXON Missense_A136T exm83888 1 112026370 [A/G] NM_020683,NM_001081976 ADORA3,ADORA3 EXON Missense_T328I,Missense_T247I exm83900 1 112028460 [A/G] NM_020683,NM_001081976 ADORA3,ADORA3 EXON Missense_T292M,Missense_T211M exm83907 1 112029215 [A/G] NM_020683,NM_001081976 ADORA3,ADORA3 EXON Missense_R289C,Missense_R208C exm83909 1 112029226 [T/C] NM_020683,NM_001081976 ADORA3,ADORA3 EXON Missense_R285H,Missense_R204H exm83911 1 112029241 [A/G] NM_020683,NM_001081976 ADORA3,ADORA3 EXON Missense_A280V,Missense_A199V exm2273677 1 112031476 [T/C] NM_020683,NM_001081976 ADORA3,ADORA3 EXON Missense_A210T,Missense_A129T exm83930 1 112042574 [A/G] NM_020683,NM_001081976,NM_000677 ADORA3,ADORA3,ADORA3 EXON Silent,Silent,Missense_X319Q exm83937 1 112042732 [T/A] NM_020683,NM_001081976,NM_000677 ADORA3,ADORA3,ADORA3 EXON Silent,Silent,Missense_M266K exm83938 1 112042787 [T/G] NM_020683,NM_001081976,NM_000677 ADORA3,ADORA3,ADORA3 EXON Silent,Silent,Missense_I248L exm83945 1 112042946 [T/C] NM_020683,NM_001081976,NM_000677 ADORA3,ADORA3,ADORA3 EXON Silent,Silent,Missense_A195T exm83972 1 112045709 [G/C] NM_020683,NM_001081976,NM_000677 ADORA3,ADORA3,ADORA3 EXON Missense_L90V,Silent,Missense_L90V exm83974 1 112045734 [T/G] NM_020683,NM_001081976,NM_000677 ADORA3,ADORA3,ADORA3 EXON Nonsense_Y81X,Silent,Nonsense_Y81X exm83980 1 112045886 [T/C] NM_020683,NM_001081976,NM_000677 ADORA3,ADORA3,ADORA3 EXON Missense_V31M,Silent,Missense_V31M exm83981 1 112045912 [A/G] NM_020683,NM_001081976,NM_000677 ADORA3,ADORA3,ADORA3 EXON Missense_I22T,Silent,Missense_I22T exm-rs494453 1 112192122 [T/C] NM_001010935,NM_002884 RAP1A,RAP1A Silent,Silent exm84013 1 112247098 [A/G] NM_001010935,NM_002884 RAP1A,RAP1A EXON Missense_N153S,Missense_N153S exm84023 1 112269729 [T/C] NM_019099,NM_198926 FAM212B,FAM212B EXON Missense_S252N,Missense_S237N exm84025 1 112269757 [T/C] NM_019099,NM_198926 FAM212B,FAM212B EXON Missense_G243S,Missense_G228S exm84031 1 112269828 [T/C] NM_019099,NM_198926 FAM212B,FAM212B EXON Missense_R219Q,Missense_R204Q exm84032 1 112269837 [T/C] NM_019099,NM_198926 FAM212B,FAM212B EXON Missense_R216H,Missense_R201H exm1698515 1 112269930 [T/C] NM_019099,NM_198926 FAM212B,FAM212B EXON Missense_G185E,Missense_G170E exm84049 1 112270080 [T/C] NM_019099,NM_198926 FAM212B,FAM212B EXON Missense_R135Q,Missense_R120Q exm84054 1 112270131 [A/G] NM_019099,NM_198926 FAM212B,FAM212B EXON Missense_P118L,Missense_P103L exm84060 1 112270282 [T/C] NM_019099,NM_198926 FAM212B,FAM212B EXON Missense_E68K,Missense_E53K exm84078 1 112298581 [T/C] NM_007204 DDX20 EXON Missense_A12V exm84089 1 112298755 [T/C] NM_007204 DDX20 EXON Missense_S70L exm84100 1 112302035 [G/C] NM_007204 DDX20 EXON Missense_A137G exm84113 1 112303415 [C/G] NM_007204 DDX20 EXON Missense_K256N exm84120 1 112303720 [G/C] NM_007204 DDX20 EXON Missense_A312G exm84122 1 112303861 [A/G] NM_007204 DDX20 EXON Missense_A326T exm84127 1 112304909 [A/G] NM_007204 DDX20 EXON Missense_M352V exm84137 1 112305560 [T/C] NM_007204 DDX20 EXON Missense_R415W exm84143 1 112305627 [T/C] NM_007204 DDX20 EXON Missense_P437L exm1698699 1 112308413 [A/G] NM_007204 DDX20 EXON Missense_K456R exm84150 1 112308631 [A/G] NM_007204 DDX20 EXON Missense_K529E exm84155 1 112308722 [A/G] NM_007204 DDX20 EXON Missense_N559S exm84163 1 112308821 [A/C] NM_007204 DDX20 EXON Missense_A592D exm1698706 1 112308895 [A/C] NM_007204 DDX20 EXON Missense_T617P exm84165 1 112308953 [T/C] NM_007204 DDX20 EXON Missense_I636T exm84167 1 112308970 [T/G] NM_007204 DDX20 EXON Missense_V642L exm84171 1 112309023 [A/C] NM_007204 DDX20 EXON Nonsense_Y659X exm84173 1 112309076 [T/C] NM_007204 DDX20 EXON Missense_S677F exm84174 1 112309109 [T/C] NM_007204 DDX20 EXON Missense_T688M exm84177 1 112309123 [A/C] NM_007204 DDX20 EXON Missense_R693S exm84182 1 112309184 [A/G] NM_007204 DDX20 EXON Missense_E713G exm84183 1 112309249 [T/C] NM_007204 DDX20 EXON Missense_R735W exm84187 1 112309330 [A/G] NM_007204 DDX20 EXON Missense_I762V exm84188 1 112309331 [T/C] NM_007204 DDX20 EXON Missense_I762T exm84191 1 112309437 [T/G] NM_007204 DDX20 EXON Missense_W797C exm84210 1 112319712 [A/G] NM_172198,NM_004980 KCND3,KCND3 EXON Missense_R549C,Missense_R568C exm84211 1 112319718 [A/G] NM_172198,NM_004980 KCND3,KCND3 EXON Missense_R547C,Missense_R566C exm84212 1 112319765 [T/C] NM_172198,NM_004980 KCND3,KCND3 EXON Missense_R531H,Missense_R550H exm84213 1 112319768 [T/C] NM_172198,NM_004980 KCND3,KCND3 EXON Missense_R530H,Missense_R549H exm84216 1 112319841 [T/C] NM_172198,NM_004980 KCND3,KCND3 EXON Missense_M506V,Missense_M525V exm84222 1 112322852 [T/C] NM_172198,NM_004980 KCND3,KCND3 EXON Missense_T486A,Missense_T486A exm2265036 1 112362645 [A/G] NM_172198,NM_004980 KCND3,KCND3 Silent,Silent exm2264891 1 112385547 [A/G] NM_172198,NM_004980 KCND3,KCND3 Silent,Silent exm84253 1 112524708 [T/C] NM_172198,NM_004980 KCND3,KCND3 EXON Missense_K214R,Missense_K214R exm-rs6681719 1 112538743 [A/G] NM_001270945 LOC643355 Silent exm-rs7555668 1 112856570 [T/C] exm-rs2999471 1 112928036 [T/C] exm2263832 1 112930006 [A/C] exm2263863 1 112973783 [A/C] NM_018704 CTTNBP2NL Silent exm84299 1 112991675 [A/G] NM_018704 CTTNBP2NL EXON Missense_E71K exm84302 1 112991736 [A/G] NM_018704 CTTNBP2NL EXON Missense_K91R exm84319 1 112998769 [A/G] NM_018704 CTTNBP2NL EXON Missense_E219K exm1700591 1 112998890 [A/G] NM_018704 CTTNBP2NL EXON Missense_R259Q exm84327 1 112999000 [A/G] NM_018704 CTTNBP2NL EXON Missense_V296M exm84329 1 112999030 [A/G] NM_018704 CTTNBP2NL EXON Missense_M306V exm84337 1 112999193 [C/G] NM_018704 CTTNBP2NL EXON Missense_R360T exm84346 1 112999339 [A/G] NM_018704 CTTNBP2NL EXON Missense_S409G exm84357 1 112999561 [T/C] NM_018704 CTTNBP2NL EXON Missense_P483S exm84367 1 112999882 [A/G] NM_018704 CTTNBP2NL EXON Missense_T590A exm84373 1 112999996 [A/G] NM_018704 CTTNBP2NL EXON Missense_G628S exm84378 1 113010178 [A/G] NM_004185 WNT2B EXON Missense_V7M exm84380 1 113010195 [T/G] NM_004185 WNT2B EXON Missense_I12M exm84398 1 113057602 [A/G] NM_004185,NM_024494 WNT2B,WNT2B EXON Missense_G78S,Missense_G97S exm84400 1 113057615 [A/G] NM_004185,NM_024494 WNT2B,WNT2B EXON Missense_R82Q,Missense_R101Q exm84404 1 113057708 [T/C] NM_004185,NM_024494 WNT2B,WNT2B EXON Missense_M113T,Missense_M132T exm84417 1 113058909 [A/C] NM_004185,NM_024494 WNT2B,WNT2B EXON Missense_D165A,Missense_D184A exm84429 1 113059924 [A/G] NM_004185,NM_024494 WNT2B,WNT2B EXON Missense_R269H,Missense_R288H exm84445 1 113068651 [T/C] NM_017744,NM_138728,NM_138727 ST7L,ST7L,ST7L EXON Missense_G571D,Missense_G540D,Missense_G554D exm1700857 1 113068652 [A/C] NM_017744,NM_138728,NM_138727 ST7L,ST7L,ST7L EXON Missense_G571C,Missense_G540C,Missense_G554C exm84446 1 113068676 [A/G] NM_017744,NM_138728,NM_138727 ST7L,ST7L,ST7L EXON Nonsense_Q563X,Nonsense_Q532X,Nonsense_Q546X exm84454 1 113093246 [A/G] NM_017744,NM_138728,NM_138727,NM_138729 ST7L,ST7L,ST7L,ST7L EXON Missense_T489M,Silent,Missense_T472M,Missense_T489M exm1700905 1 113093294 [A/G] NM_017744,NM_138728,NM_138727,NM_138729 ST7L,ST7L,ST7L,ST7L EXON Missense_P473L,Silent,Missense_P456L,Missense_P473L exm84461 1 113098534 [T/C] NM_017744,NM_138728,NM_138727,NM_138729 ST7L,ST7L,ST7L,ST7L EXON Missense_R451Q,Missense_R451Q,Missense_R434Q,Missense_R451Q exm84467 1 113098598 [T/C] NM_017744,NM_138728,NM_138727,NM_138729 ST7L,ST7L,ST7L,ST7L EXON Missense_I430V,Missense_I430V,Missense_I413V,Missense_I430V exm84473 1 113119612 [A/G] NM_017744,NM_138728,NM_138727,NM_138729 ST7L,ST7L,ST7L,ST7L EXON Missense_P414L,Missense_P414L,Missense_P397L,Missense_P414L exm1700924 1 113120982 [A/C] NM_017744,NM_138728,NM_138727,NM_138729 ST7L,ST7L,ST7L,ST7L EXON Missense_R376M,Missense_R376M,Missense_R359M,Missense_R376M exm84482 1 113125080 [T/C] NM_017744,NM_138728,NM_138727,NM_138729 ST7L,ST7L,ST7L,ST7L EXON Missense_V291I,Missense_V291I,Missense_V274I,Missense_V291I exm84489 1 113126734 [T/C] NM_017744,NM_138728,NM_138727,NM_138729 ST7L,ST7L,ST7L,ST7L EXON Missense_Y239C,Missense_Y239C,Missense_Y222C,Missense_Y239C exm84492 1 113134192 [A/G] NM_017744,NM_138728,NM_138727,NM_138729 ST7L,ST7L,ST7L,ST7L EXON Missense_P219L,Missense_P219L,Missense_P202L,Missense_P219L exm84495 1 113140594 [T/C] NM_017744,NM_138728,NM_138727,NM_138729 ST7L,ST7L,ST7L,ST7L EXON Synonymous_T207T,Synonymous_T207T,Synonymous_T190T,Synonymous_T207T exm84500 1 113143420 [T/C] NM_017744,NM_138728,NM_138727,NM_138729 ST7L,ST7L,ST7L,ST7L EXON Missense_R168G,Missense_R168G,Missense_R151G,Missense_R168G exm84501 1 113143441 [A/G] NM_017744,NM_138728,NM_138727,NM_138729 ST7L,ST7L,ST7L,ST7L EXON Missense_L161F,Missense_L161F,Missense_L144F,Missense_L161F exm84509 1 113153580 [T/C] NM_017744,NM_138728,NM_138727,NM_138729 ST7L,ST7L,ST7L,ST7L EXON Missense_E112K,Missense_E112K,Missense_E95K,Missense_E112K exm84510 1 113153597 [T/C] NM_017744,NM_138728,NM_138727,NM_138729 ST7L,ST7L,ST7L,ST7L EXON Missense_H106R,Missense_H106R,Missense_H89R,Missense_H106R exm84511 1 113153619 [G/C] NM_017744,NM_138728,NM_138727,NM_138729 ST7L,ST7L,ST7L,ST7L EXON Missense_E99Q,Missense_E99Q,Missense_E82Q,Missense_E99Q exm84513 1 113159464 [A/T] NM_017744,NM_138728,NM_138727,NM_138729 ST7L,ST7L,ST7L,ST7L EXON Missense_T87S,Missense_T87S,Missense_T70S,Missense_T87S exm84517 1 113161534 [A/C] NM_017744,NM_138728,NM_138727,NM_138729 ST7L,ST7L,ST7L,ST7L EXON Missense_A68S,Missense_A68S,Missense_A68S,Missense_A68S exm84523 1 113161692 [A/G] NM_017744,NM_138728,NM_138727,NM_138729 ST7L,ST7L,ST7L,ST7L EXON Missense_A15V,Missense_A15V,Missense_A15V,Missense_A15V exm84525 1 113161699 [T/C] NM_017744,NM_138728,NM_138727,NM_138729 ST7L,ST7L,ST7L,ST7L EXON Missense_V13I,Missense_V13I,Missense_V13I,Missense_V13I exm84526 1 113161725 [T/C] NM_017744,NM_138728,NM_138727,NM_138729 ST7L,ST7L,ST7L,ST7L EXON Missense_R4H,Missense_R4H,Missense_R4H,Missense_R4H exm84527 1 113161727 [G/C] NM_017744,NM_138728,NM_138727,NM_138729 ST7L,ST7L,ST7L,ST7L EXON Missense_D3E,Missense_D3E,Missense_D3E,Missense_D3E exm84535 1 113162482 [T/G] NM_006135 CAPZA1 EXON Missense_D6Y exm84538 1 113162492 [T/C] NM_006135 CAPZA1 EXON Missense_S9L exm84539 1 113162494 [A/G] NM_006135 CAPZA1 EXON Missense_D10N exm84542 1 113162500 [A/G] NM_006135 CAPZA1 EXON Missense_E12K exm-rs17030613 1 113190807 [A/C] NM_006135 CAPZA1 Silent exm84546 1 113192067 [A/G] NM_006135 CAPZA1 EXON Missense_N44S exm84547 1 113192091 [A/G] NM_006135 CAPZA1 EXON Missense_H52R exm84575 1 113209743 [A/T] NM_006135 CAPZA1 EXON Missense_D211E exm84576 1 113209765 [A/T] NM_006135 CAPZA1 EXON Missense_S219T exm84577 1 113212184 [A/G] NM_006135 CAPZA1 EXON Missense_K226R exm84604 1 113232218 [C/G] NM_001130079,NM_020963 MOV10,MOV10 EXON Missense_P175A,Missense_P175A exm84609 1 113232587 [A/G] NM_001130079,NM_020963 MOV10,MOV10 EXON Missense_A235T,Missense_A235T exm84612 1 113232605 [A/G] NM_001130079,NM_020963 MOV10,MOV10 EXON Missense_V241I,Missense_V241I exm84622 1 113234345 [T/C] NM_001130079,NM_020963 MOV10,MOV10 EXON Missense_R299C,Missense_R299C exm84625 1 113234376 [A/G] NM_001130079,NM_020963 MOV10,MOV10 EXON Missense_Q309R,Missense_Q309R exm84648 1 113237212 [T/C] NM_001130079,NM_020963 MOV10,MOV10 EXON Missense_P478L,Missense_P478L exm84651 1 113237371 [A/G] NM_001130079,NM_020963 MOV10,MOV10 EXON Synonymous_K491K,Synonymous_K491K exm84674 1 113239422 [A/G] NM_001130079,NM_020963 MOV10,MOV10 EXON Missense_D718N,Missense_D718N exm84675 1 113239459 [A/G] NM_001130079,NM_020963 MOV10,MOV10 EXON Missense_R730H,Missense_R730H exm84683 1 113240711 [A/G] NM_001130079,NM_020963 MOV10,MOV10 EXON Missense_R765H,Missense_R765H exm84708 1 113243071 [A/G] NM_001130079,NM_020963 MOV10,MOV10 EXON Missense_R985Q,Missense_R985Q exm84713 1 113244187 [T/C] NM_175744,NM_001042679,NM_001042678 RHOC,RHOC,RHOC EXON Missense_R186H,Missense_R186H,Missense_R186H exm84718 1 113244301 [A/G] NM_175744,NM_001042679,NM_001042678 RHOC,RHOC,RHOC EXON Missense_A148V,Missense_A148V,Missense_A148V exm1701107 1 113246274 [T/C] NM_175744,NM_001042679,NM_001042678 RHOC,RHOC,RHOC EXON Missense_G50S,Missense_G50S,Missense_G50S exm84741 1 113252811 [C/G] NM_005167 PPM1J EXON Missense_L498V exm84742 1 113252841 [T/C] NM_005167 PPM1J EXON Missense_G488R exm84745 1 113252882 [T/C] NM_005167 PPM1J EXON Missense_R474Q exm1701117 1 113252927 [G/C] NM_005167 PPM1J EXON Missense_T459R exm84750 1 113253229 [T/C] NM_005167 PPM1J EXON Missense_R408Q exm84762 1 113253638 [T/C] NM_005167 PPM1J EXON Missense_G368S exm84779 1 113254648 [A/G] NM_005167 PPM1J EXON Missense_I291T exm2268739 1 113255212 [T/G] NM_005167 PPM1J Silent exm84786 1 113255389 [T/C] NM_005167 PPM1J EXON Missense_V236I exm2230816 1 113255436 [T/C] NM_005167 PPM1J EXON Nonsense_W220X exm84788 1 113255456 [A/C] NM_005167 PPM1J EXON Missense_L213F exm84805 1 113257761 [T/C] NM_005167 PPM1J EXON Missense_A55T exm84806 1 113257762 [T/G] NM_005167 PPM1J EXON Missense_S54R exm84808 1 113264856 [A/G] NM_182759,NM_001004440 FAM19A3,FAM19A3 EXON Missense_M1V,Missense_M1V exm1701145 1 113264896 [A/G] NM_182759,NM_001004440 FAM19A3,FAM19A3 EXON Nonsense_W14X,Nonsense_W14X exm84812 1 113264968 [T/C] NM_182759,NM_001004440 FAM19A3,FAM19A3 EXON Missense_T38I,Missense_T38I exm84814 1 113265646 [A/C] NM_182759,NM_001004440 FAM19A3,FAM19A3 EXON Missense_Q42K,Missense_Q42K exm84822 1 113266594 [A/G] NM_182759,NM_001004440 FAM19A3,FAM19A3 EXON Silent,Missense_R98H exm84829 1 113266708 [A/G] NM_182759,NM_001004440 FAM19A3,FAM19A3 EXON Synonymous_P113P,Missense_R136Q exm84831 1 113266716 [T/C] NM_182759,NM_001004440 FAM19A3,FAM19A3 EXON Missense_S116L,Missense_R139W exm84833 1 113266737 [A/G] NM_182759,NM_001004440 FAM19A3,FAM19A3 EXON Missense_G123E,Missense_D146N exm84834 1 113266753 [G/C] NM_182759,NM_001004440 FAM19A3,FAM19A3 EXON Synonymous_T128T,Missense_P151R exm84840 1 113269294 [T/C] NM_182759,NM_001004440 FAM19A3,FAM19A3 EXON Silent,Missense_L168F exm-rs11590090 1 113313563 [A/C] exm84845 1 113456546 [T/A] NM_003051,NM_001166496 SLC16A1,SLC16A1 EXON Missense_D490E,Missense_D490E exm84847 1 113456602 [T/C] NM_003051,NM_001166496 SLC16A1,SLC16A1 EXON Missense_G472R,Missense_G472R exm84857 1 113459911 [T/C] NM_003051,NM_001166496 SLC16A1,SLC16A1 EXON Missense_V373I,Missense_V373I exm84860 1 113459965 [T/C] NM_003051,NM_001166496 SLC16A1,SLC16A1 EXON Missense_G355R,Missense_G355R exm84864 1 113460049 [A/G] NM_003051,NM_001166496 SLC16A1,SLC16A1 EXON Missense_P327S,Missense_P327S exm84865 1 113460055 [T/C] NM_003051,NM_001166496 SLC16A1,SLC16A1 EXON Missense_I325V,Missense_I325V exm84875 1 113460406 [T/C] NM_003051,NM_001166496 SLC16A1,SLC16A1 EXON Missense_D208N,Missense_D208N exm84878 1 113460424 [A/G] NM_003051,NM_001166496 SLC16A1,SLC16A1 EXON Missense_P202S,Missense_P202S exm84890 1 113464670 [A/C] NM_003051,NM_001166496 SLC16A1,SLC16A1 EXON Missense_I101M,Missense_I101M exm1701651 1 113616048 [C/G] NM_014813 LRIG2 EXON Missense_G7A exm84917 1 113636134 [T/A] NM_014813 LRIG2 EXON Missense_I155L exm84928 1 113637055 [A/G] NM_014813 LRIG2 EXON Missense_M204V exm84929 1 113637071 [G/C] NM_014813 LRIG2 EXON Missense_P209R exm84940 1 113638635 [A/G] NM_014813 LRIG2 EXON Missense_E315K exm84961 1 113650307 [A/G] NM_014813 LRIG2 EXON Missense_V469I exm84962 1 113650373 [T/G] NM_014813 LRIG2 EXON Missense_V491F exm84973 1 113653034 [T/C] NM_014813 LRIG2 EXON Missense_R550C exm84974 1 113653035 [A/G] NM_014813 LRIG2 EXON Missense_R550H exm84976 1 113653074 [G/C] NM_014813 LRIG2 EXON Missense_S563T exm84977 1 113653082 [T/C] NM_014813 LRIG2 EXON Missense_H566Y exm2273678 1 113655259 [A/G] NM_014813 LRIG2 EXON Missense_V653I exm1701686 1 113655293 [A/G] NM_014813 LRIG2 EXON Missense_N664S exm84992 1 113657233 [T/G] NM_014813 LRIG2 EXON Missense_D755E exm84993 1 113657262 [T/C] NM_014813 LRIG2 EXON Missense_T765I exm84997 1 113657385 [T/C] NM_014813 LRIG2 EXON Missense_V806A exm84999 1 113657466 [A/G] NM_014813 LRIG2 EXON Missense_R833K exm85004 1 113658932 [T/A] NM_014813 LRIG2 EXON Missense_I852F exm85005 1 113658942 [A/G] NM_014813 LRIG2 EXON Missense_Y855C exm85009 1 113659023 [T/C] NM_014813 LRIG2 EXON Missense_P882L exm85015 1 113661918 [T/C] NM_014813 LRIG2 EXON Missense_T915I exm85024 1 113662142 [A/G] NM_014813 LRIG2 EXON Missense_G990S exm85030 1 113666613 [A/G] NM_014813 LRIG2 EXON Missense_G1030R exm85032 1 113666714 [C/G] NM_014813 LRIG2 EXON Missense_E1063D exm2268740 1 113822284 [T/C] exm-rs773564 1 113824297 [T/C] exm85043 1 113933675 [A/G] NM_001142782,NM_152900 MAGI3,MAGI3 EXON Missense_K7R,Missense_K7R exm85087 1 114128161 [G/C] NM_001142782,NM_152900 MAGI3,MAGI3 EXON Missense_L236V,Missense_L236V exm85095 1 114133195 [T/C] NM_001142782,NM_152900 MAGI3,MAGI3 EXON Missense_Y285H,Missense_Y285H exm85103 1 114165485 [A/G] NM_001142782,NM_152900 MAGI3,MAGI3 EXON Missense_R410Q,Missense_R410Q exm85115 1 114184827 [A/G] NM_001142782,NM_152900 MAGI3,MAGI3 EXON Missense_G552D,Missense_G552D exm85136 1 114189263 [A/T] NM_001142782,NM_152900 MAGI3,MAGI3 EXON Missense_K718N,Missense_K718N exm85140 1 114193691 [A/G] NM_001142782,NM_152900 MAGI3,MAGI3 EXON Missense_R768H,Missense_R768H exm85148 1 114196521 [A/G] NM_001142782,NM_152900 MAGI3,MAGI3 EXON Missense_R837Q,Missense_R837Q exm85151 1 114196575 [T/A] NM_001142782,NM_152900 MAGI3,MAGI3 EXON Missense_Q855L,Missense_Q855L exm85167 1 114214380 [T/C] NM_001142782,NM_152900 MAGI3,MAGI3 EXON Missense_T947I,Missense_T947I exm85185 1 114225614 [A/G] NM_001142782,NM_152900 MAGI3,MAGI3 EXON Missense_E1142K,Silent exm85194 1 114226143 [A/G] NM_001142782,NM_152900 MAGI3,MAGI3 EXON Missense_G1318D,Silent exm85203 1 114226527 [T/C] NM_001142782,NM_152900 MAGI3,MAGI3 EXON Missense_P1446L,Silent exm85227 1 114246790 [T/C] NM_006608 PHTF1 Silent exm1701823 1 114247301 [T/C] NM_006608 PHTF1 EXON Missense_R597H exm85235 1 114248546 [A/G] NM_006608 PHTF1 EXON Missense_F546S exm85245 1 114248691 [A/G] NM_006608 PHTF1 EXON Missense_R498C exm85248 1 114248781 [A/T] NM_006608 PHTF1 EXON Missense_N468Y exm85259 1 114252968 [A/G] NM_006608 PHTF1 EXON Missense_R393W exm85267 1 114254442 [T/C] NM_006608 PHTF1 EXON Missense_T325A exm85271 1 114254650 [A/G] NM_006608 PHTF1 EXON Missense_L290S exm85279 1 114255975 [T/G] NM_006608 PHTF1 EXON Missense_Q237K exm85288 1 114267508 [A/G] NM_006608 PHTF1 EXON Nonsense_R166X exm85293 1 114269154 [A/C] NM_006608 PHTF1 EXON Missense_I125R exm85294 1 114269155 [T/C] NM_006608 PHTF1 EXON Missense_I125V exm85300 1 114280797 [T/C] NM_006608 PHTF1 EXON Missense_N89S exm85314 1 114301286 [T/C] NM_006608 PHTF1 EXON Missense_K14E exm-rs6679677 1 114303808 [A/C] exm85322 1 114308772 [A/G] NM_018364 RSBN1 EXON Missense_C747R exm85349 1 114340502 [T/C] NM_018364 RSBN1 EXON Missense_R287H exm1701905 1 114354433 [T/C] NM_018364 RSBN1 EXON Missense_D201G exm2249696 1 114354942 [T/G] NM_018364 RSBN1 EXON Synonymous_R31R exm85395 1 114362278 [T/G] NM_001193431,NM_012411,NM_015967 PTPN22,PTPN22,PTPN22 Silent,Silent,Silent exm85396 1 114367763 [T/C] NM_001193431,NM_012411,NM_015967 PTPN22,PTPN22,PTPN22 Silent,Silent,Silent exm85399 1 114367793 [T/C] NM_001193431,NM_012411,NM_015967 PTPN22,PTPN22,PTPN22 EXON Missense_S723N,Missense_S696N,Missense_S751N exm85400 1 114372214 [G/C] NM_001193431,NM_012411,NM_015967 PTPN22,PTPN22,PTPN22 EXON Missense_K722N,Missense_K695N,Missense_K750N exm85401 1 114372222 [T/C] NM_001193431,NM_012411,NM_015967 PTPN22,PTPN22,PTPN22 EXON Missense_R720G,Missense_R693G,Missense_R748G exm85413 1 114375747 [T/C] NM_001193431,NM_012411,NM_015967 PTPN22,PTPN22,PTPN22 EXON Missense_R652Q,Missense_R625Q,Missense_R680Q exm85421 1 114377035 [A/G] NM_001193431,NM_012411,NM_015967 PTPN22,PTPN22,PTPN22 EXON Missense_S641P,Missense_S586P,Missense_S641P exm85425 1 114377561 [C/G] NM_001193431,NM_012411,NM_015967 PTPN22,PTPN22,PTPN22 EXON Missense_P622R,Missense_P567R,Missense_P622R exm85426 1 114377567 [T/C] NM_001193431,NM_012411,NM_015967 PTPN22,PTPN22,PTPN22 EXON Nonsense_W620X,Nonsense_W565X,Nonsense_W620X exm85427 1 114377568 [A/G] NM_001193431,NM_012411,NM_015967 PTPN22,PTPN22,PTPN22 EXON Missense_W620R,Missense_W565R,Missense_W620R exm85429 1 114377610 [A/C] NM_001193431,NM_012411,NM_015967 PTPN22,PTPN22,PTPN22 EXON Missense_A606S,Missense_A551S,Missense_A606S exm85434 1 114380280 [T/C] NM_001193431,NM_012411,NM_015967 PTPN22,PTPN22,PTPN22 EXON Missense_H581R,Missense_H526R,Missense_H581R exm85438 1 114380395 [T/C] NM_001193431,NM_012411,NM_015967 PTPN22,PTPN22,PTPN22 EXON Missense_S543G,Missense_S488G,Missense_S543G exm85439 1 114380439 [T/C] NM_001193431,NM_012411,NM_015967 PTPN22,PTPN22,PTPN22 EXON Missense_Y528C,Missense_Y473C,Missense_Y528C exm85442 1 114380493 [T/C] NM_001193431,NM_012411,NM_015967 PTPN22,PTPN22,PTPN22 EXON Missense_R510H,Missense_R455H,Missense_R510H exm85449 1 114380656 [G/C] NM_001193431,NM_012411,NM_015967 PTPN22,PTPN22,PTPN22 EXON Missense_Q456E,Missense_Q401E,Missense_Q456E exm85453 1 114380886 [T/C] NM_001193431,NM_012411,NM_015967 PTPN22,PTPN22,PTPN22 EXON Missense_D379G,Missense_D324G,Missense_D379G exm85455 1 114380914 [T/G] NM_001193431,NM_012411,NM_015967 PTPN22,PTPN22,PTPN22 EXON Missense_H370N,Missense_H315N,Missense_H370N exm85457 1 114380944 [T/C] NM_001193431,NM_012411,NM_015967 PTPN22,PTPN22,PTPN22 EXON Missense_E360K,Missense_E305K,Missense_E360K exm85460 1 114381181 [A/G] NM_001193431,NM_012411,NM_015967 PTPN22,PTPN22,PTPN22 EXON Missense_P326L,Missense_P271L,Missense_P326L exm2249697 1 114391219 [T/C] NM_001193431,NM_012411,NM_015967 PTPN22,PTPN22,PTPN22 EXON Synonymous_V286V,Silent,Synonymous_V286V exm85468 1 114394689 [T/C] NM_001193431,NM_012411,NM_015967 PTPN22,PTPN22,PTPN22 EXON Missense_R263Q,Silent,Missense_R263Q exm85469 1 114394690 [A/G] NM_001193431,NM_012411,NM_015967 PTPN22,PTPN22,PTPN22 EXON Missense_R263W,Silent,Missense_R263W exm85488 1 114399229 [A/G] NM_001193431,NM_012411,NM_015967 PTPN22,PTPN22,PTPN22 EXON Missense_R141C,Missense_R141C,Missense_R141C exm85493 1 114401662 [T/C] NM_001193431,NM_012411,NM_015967,NR_037864 PTPN22,PTPN22,PTPN22,AP4B1-AS1 EXON Missense_D79N,Missense_D79N,Missense_D79N,Silent exm85500 1 114414169 [T/C] NM_001193431,NM_012411,NM_015967,NR_037864 PTPN22,PTPN22,PTPN22,AP4B1-AS1 EXON Missense_N26S,Missense_N26S,Missense_N26S,Silent exm2259731 1 114423653 [T/C] NR_037864,NM_001010922 AP4B1-AS1,BCL2L15 EXON Silent,Silent exm85514 1 114424562 [T/C] NR_037864,NM_001010922 AP4B1-AS1,BCL2L15 EXON Silent,Missense_D103N exm85515 1 114424601 [T/C] NR_037864,NM_001010922 AP4B1-AS1,BCL2L15 EXON Silent,Missense_D90N exm85516 1 114424609 [A/G] NR_037864,NM_001010922 AP4B1-AS1,BCL2L15 EXON Silent,Missense_I87T exm2276895 1 114429161 [A/G] NR_037864,NM_001010922 AP4B1-AS1,BCL2L15 EXON Silent,Nonsense_Q83X exm2275472 1 114429213 [A/G] NR_037864,NM_001010922 AP4B1-AS1,BCL2L15 EXON Silent,Synonymous_N65N exm2273679 1 114437707 [T/C] NR_037864,NM_001253853,NM_006594,NM_001253852 AP4B1-AS1,AP4B1,AP4B1,AP4B1 EXON Silent,Missense_I635V,Missense_I734V,Missense_I734V exm85540 1 114438064 [A/C] NR_037864,NM_001253853,NM_006594,NM_001253852 AP4B1-AS1,AP4B1,AP4B1,AP4B1 EXON Silent,Missense_S516A,Missense_S615A,Missense_S615A exm85544 1 114438448 [T/C] NR_037864,NM_001253853,NM_006594,NM_001253852 AP4B1-AS1,AP4B1,AP4B1,AP4B1 EXON Silent,Missense_I476V,Missense_I575V,Missense_I575V exm1701974 1 114438613 [A/G] NR_037864,NM_001253853,NM_006594,NM_001253852 AP4B1-AS1,AP4B1,AP4B1,AP4B1 EXON Silent,Missense_R421C,Missense_R520C,Missense_R520C exm85551 1 114438882 [A/G] NR_037864,NM_001253853,NM_006594,NM_001253852 AP4B1-AS1,AP4B1,AP4B1,AP4B1 EXON Silent,Missense_I404T,Missense_I503T,Missense_I503T exm85556 1 114438951 [A/G] NR_037864,NM_001253853,NM_006594,NM_001253852 AP4B1-AS1,AP4B1,AP4B1,AP4B1 EXON Silent,Missense_L381S,Missense_L480S,Missense_L480S exm85570 1 114440547 [T/C] NR_037864,NM_001253853,NM_006594,NM_001253852 AP4B1-AS1,AP4B1,AP4B1,AP4B1 EXON Silent,Missense_R307Q,Missense_R406Q,Missense_R406Q exm85573 1 114441349 [T/C] NR_037864,NM_001253853,NM_006594,NM_001253852 AP4B1-AS1,AP4B1,AP4B1,AP4B1 EXON Silent,Missense_I298V,Missense_I397V,Missense_I397V exm85582 1 114442583 [A/G] NR_037864,NM_001253853,NM_006594,NM_001253852 AP4B1-AS1,AP4B1,AP4B1,AP4B1 EXON Silent,Nonsense_R254X,Nonsense_R353X,Nonsense_R353X exm1701980 1 114442672 [A/G] NR_037864,NM_001253853,NM_006594,NM_001253852 AP4B1-AS1,AP4B1,AP4B1,AP4B1 EXON Silent,Missense_S224L,Missense_S323L,Missense_S323L exm85584 1 114442673 [T/A] NR_037864,NM_001253853,NM_006594,NM_001253852 AP4B1-AS1,AP4B1,AP4B1,AP4B1 EXON Silent,Missense_S224T,Missense_S323T,Missense_S323T exm85589 1 114442742 [A/C] NR_037864,NM_001253853,NM_006594,NM_001253852 AP4B1-AS1,AP4B1,AP4B1,AP4B1 EXON Silent,Missense_V201L,Missense_V300L,Missense_V300L exm1701981 1 114442837 [T/C] NR_037864,NM_001253853,NM_006594,NM_001253852 AP4B1-AS1,AP4B1,AP4B1,AP4B1 EXON Silent,Missense_H169R,Missense_H268R,Missense_H268R exm85596 1 114442873 [A/G] NR_037864,NM_001253853,NM_006594,NM_001253852 AP4B1-AS1,AP4B1,AP4B1,AP4B1 EXON Silent,Missense_T157I,Missense_T256I,Missense_T256I exm85597 1 114442885 [A/G] NR_037864,NM_001253853,NM_006594,NM_001253852 AP4B1-AS1,AP4B1,AP4B1,AP4B1 EXON Silent,Missense_V153A,Missense_V252A,Missense_V252A exm85617 1 114444457 [T/C] NM_001253853,NM_006594,NM_001253852 AP4B1,AP4B1,AP4B1 EXON Missense_R31Q,Missense_R130Q,Missense_R130Q exm85619 1 114444488 [A/T] NM_001253853,NM_006594,NM_001253852 AP4B1,AP4B1,AP4B1 EXON Missense_Y21N,Missense_Y120N,Missense_Y120N exm1701992 1 114445447 [T/G] NM_001253853,NM_006594,NM_001253852 AP4B1,AP4B1,AP4B1 EXON Silent,Missense_M51L,Missense_M51L exm2230834 1 114447565 [A/G] NM_001253853,NM_006594 AP4B1,AP4B1 EXON Silent,Silent exm85641 1 114448279 [T/C] NM_022836 DCLRE1B EXON Missense_A24V exm85645 1 114448345 [T/G] NM_022836 DCLRE1B EXON Missense_R46L exm85648 1 114448389 [T/C] NM_022836 DCLRE1B EXON Missense_H61Y exm85660 1 114450759 [A/G] NM_022836 DCLRE1B EXON Missense_A162T exm85671 1 114454061 [T/C] NM_022836 DCLRE1B EXON Missense_R283C exm85672 1 114454062 [A/G] NM_022836 DCLRE1B EXON Missense_R283H exm85673 1 114454112 [T/C] NM_022836 DCLRE1B EXON Missense_R300W exm85679 1 114454218 [A/G] NM_022836 DCLRE1B EXON Missense_S335N exm85688 1 114454398 [A/G] NM_022836 DCLRE1B EXON Missense_R395Q exm85691 1 114454467 [T/C] NM_022836 DCLRE1B EXON Missense_S418F exm85695 1 114454598 [A/G] NM_022836 DCLRE1B EXON Missense_D462N exm2230838 1 114454610 [A/G] NM_022836 DCLRE1B EXON Missense_G466S exm85699 1 114454658 [T/C] NM_022836 DCLRE1B EXON Missense_P482S exm85703 1 114454742 [T/A] NM_022836 DCLRE1B EXON Missense_N510Y exm85737 1 114497331 [G/C] NM_152696,NM_198268,NM_198269,NM_181358 HIPK1,HIPK1,HIPK1,HIPK1 EXON Missense_T420R,Missense_T420R,Missense_T46R,Missense_T26R exm1702052 1 114499261 [A/G] NM_152696,NM_198268,NM_198269,NM_181358 HIPK1,HIPK1,HIPK1,HIPK1 EXON Missense_T474A,Missense_T474A,Missense_T100A,Missense_T80A exm85752 1 114504990 [A/G] NM_152696,NM_198268,NM_198269,NM_181358 HIPK1,HIPK1,HIPK1,HIPK1 EXON Missense_N678S,Missense_N678S,Missense_N304S,Missense_N284S exm85771 1 114508845 [A/G] NM_152696,NM_198268,NM_198269,NM_181358 HIPK1,HIPK1,HIPK1,HIPK1 EXON Missense_A778T,Missense_A778T,Missense_A404T,Missense_A384T exm85773 1 114508867 [A/G] NM_152696,NM_198268,NM_198269,NM_181358 HIPK1,HIPK1,HIPK1,HIPK1 EXON Missense_G785E,Missense_G785E,Missense_G411E,Missense_G391E exm85778 1 114510534 [T/C] NM_152696,NM_198268,NM_198269,NM_181358 HIPK1,HIPK1,HIPK1,HIPK1 EXON Missense_S843L,Missense_S843L,Missense_S469L,Missense_S449L exm85781 1 114511201 [G/C] NM_152696,NM_198268,NM_198269,NM_181358 HIPK1,HIPK1,HIPK1,HIPK1 EXON Missense_P901R,Missense_P901R,Missense_P527R,Missense_P507R exm1702079 1 114512582 [A/G] NM_152696,NM_198268,NM_198269,NM_181358 HIPK1,HIPK1,HIPK1,HIPK1 EXON Missense_G926R,Missense_G926R,Missense_G552R,Missense_G532R exm85782 1 114512613 [A/G] NM_152696,NM_198268,NM_198269,NM_181358 HIPK1,HIPK1,HIPK1,HIPK1 EXON Missense_Y936C,Missense_Y936C,Missense_Y562C,Missense_Y542C exm85790 1 114512744 [A/G] NM_152696,NM_198268,NM_198269,NM_181358 HIPK1,HIPK1,HIPK1,HIPK1 EXON Missense_T980A,Missense_T980A,Missense_T606A,Missense_T586A exm85795 1 114514475 [A/G] NM_152696,NM_198268,NM_198269,NM_181358 HIPK1,HIPK1,HIPK1,HIPK1 EXON Missense_A1015T,Missense_A1015T,Missense_A641T,Missense_A621T exm85796 1 114514530 [T/C] NM_152696,NM_198268,NM_198269,NM_181358 HIPK1,HIPK1,HIPK1,HIPK1 EXON Missense_A1033V,Missense_A1033V,Missense_A659V,Missense_A639V exm85798 1 114514536 [A/G] NM_152696,NM_198268,NM_198269,NM_181358 HIPK1,HIPK1,HIPK1,HIPK1 EXON Missense_R1035H,Missense_R1035H,Missense_R661H,Missense_R641H exm85809 1 114515662 [T/C] NM_198268,NM_198269,NM_181358 HIPK1,HIPK1,HIPK1 EXON Missense_A1054V,Missense_A680V,Missense_A660V exm2264892 1 114515717 [A/G] NM_198268,NM_198269,NM_181358 HIPK1,HIPK1,HIPK1 EXON Synonymous_A1072A,Synonymous_A698A,Synonymous_A678A exm85826 1 114516078 [A/G] NM_198268,NM_198269,NM_181358 HIPK1,HIPK1,HIPK1 EXON Missense_I1193V,Missense_I819V,Missense_I799V exm85838 1 114523113 [T/C] NM_020190 OLFML3 EXON Missense_R92W exm85852 1 114523729 [A/C] NM_020190 OLFML3 EXON Missense_R187S exm85854 1 114523753 [T/G] NM_020190 OLFML3 EXON Missense_A195S exm85860 1 114523948 [A/G] NM_020190 OLFML3 EXON Missense_E260K exm85880 1 114524237 [T/C] NM_020190 OLFML3 EXON Missense_T356I exm85883 1 114524275 [T/C] NM_020190 OLFML3 EXON Missense_Y369H exm85886 1 114524315 [A/G] NM_020190 OLFML3 EXON Missense_R382H exm85896 1 114640393 [T/C] NM_001270805,NM_205848 SYT6,SYT6 EXON Missense_A406T,Missense_A406T exm85897 1 114640404 [T/C] NM_001270805,NM_205848 SYT6,SYT6 EXON Missense_R402Q,Missense_R402Q exm85900 1 114640468 [A/G] NM_001270805,NM_205848 SYT6,SYT6 EXON Missense_R381C,Missense_R381C exm1702213 1 114680217 [T/C] NM_001270805,NM_205848 SYT6,SYT6 EXON Missense_R239H,Missense_R239H exm85914 1 114680218 [A/G] NM_001270805,NM_205848 SYT6,SYT6 EXON Missense_R239C,Missense_R239C exm85919 1 114680310 [A/G] NM_001270805,NM_205848 SYT6,SYT6 EXON Missense_T208I,Missense_T208I exm85923 1 114680329 [A/G] NM_001270805,NM_205848 SYT6,SYT6 EXON Missense_R202C,Missense_R202C exm2230842 1 114680359 [A/G] NM_001270805,NM_205848 SYT6,SYT6 EXON Missense_R192C,Missense_R192C exm85926 1 114680396 [T/G] NM_001270805,NM_205848 SYT6,SYT6 EXON Missense_S179R,Missense_S179R exm85929 1 114680442 [T/C] NM_001270805,NM_205848 SYT6,SYT6 EXON Missense_R164H,Missense_R164H exm85932 1 114680475 [T/C] NM_001270805,NM_205848 SYT6,SYT6 EXON Missense_R153H,Missense_R153H exm85950 1 114682286 [A/G] NM_001270805,NM_205848 SYT6,SYT6 EXON Missense_R70C,Missense_R70C exm2230844 1 114682407 [T/G] NM_001270805,NM_205848 SYT6,SYT6 EXON Missense_N29K,Missense_N29K exm85957 1 114682424 [A/G] NM_001270805,NM_205848 SYT6,SYT6 EXON Missense_P24S,Missense_P24S exm85958 1 114682425 [G/C] NM_001270805,NM_205848 SYT6,SYT6 EXON Missense_S23R,Missense_S23R exm85959 1 114682445 [A/G] NM_001270805,NM_205848 SYT6,SYT6 EXON Missense_P17S,Missense_P17S exm-rs2774292 1 114715584 [A/G] exm2249700 1 114720018 [A/G] exm85977 1 114940386 [T/G] NM_033020,NM_015906 TRIM33,TRIM33 EXON Missense_P1073T,Missense_P1090T exm85988 1 114945393 [T/C] NM_033020,NM_015906 TRIM33,TRIM33 EXON Missense_V961M,Missense_V961M exm86001 1 114948210 [T/C] NM_033020,NM_015906 TRIM33,TRIM33 EXON Missense_I864V,Missense_I864V exm86002 1 114948281 [A/G] NM_033020,NM_015906 TRIM33,TRIM33 EXON Missense_I840T,Missense_I840T exm86006 1 114948338 [T/C] NM_033020,NM_015906 TRIM33,TRIM33 EXON Missense_N821S,Missense_N821S exm86035 1 114970516 [T/G] NM_033020,NM_015906 TRIM33,TRIM33 EXON Missense_N386H,Missense_N386H exm86047 1 115006983 [T/C] NM_033020,NM_015906 TRIM33,TRIM33 EXON Missense_R185H,Missense_R185H exm86091 1 115130363 [T/C] NM_198459,NM_001256404 DENND2C,DENND2C EXON Missense_R824Q,Missense_R881Q exm86100 1 115130508 [A/G] NM_198459,NM_001256404 DENND2C,DENND2C EXON Missense_Y776H,Missense_Y833H exm86106 1 115138455 [T/C] NM_198459,NM_001256404 DENND2C,DENND2C EXON Missense_E718K,Missense_E775K exm86109 1 115141989 [A/G] NM_198459,NM_001256404 DENND2C,DENND2C EXON Missense_A673V,Missense_A730V exm86111 1 115142823 [A/G] NM_198459,NM_001256404 DENND2C,DENND2C Silent,Silent exm86115 1 115142870 [A/G] NM_198459,NM_001256404 DENND2C,DENND2C EXON Missense_S630F,Missense_S687F exm86121 1 115143520 [T/C] NM_198459,NM_001256404 DENND2C,DENND2C EXON Missense_R569Q,Missense_R626Q exm86132 1 115144142 [T/C] NM_198459,NM_001256404 DENND2C,DENND2C EXON Missense_N544S,Missense_N601S exm86140 1 115144789 [T/C] NM_198459,NM_001256404 DENND2C,DENND2C EXON Missense_G508D,Missense_G565D exm86150 1 115151482 [T/C] NM_198459,NM_001256404 DENND2C,DENND2C EXON Missense_R404H,Missense_R461H exm86151 1 115151492 [G/C] NM_198459,NM_001256404 DENND2C,DENND2C EXON Missense_R401G,Missense_R458G exm86159 1 115161015 [A/G] NM_198459,NM_001256404 DENND2C,DENND2C EXON Missense_P382L,Missense_P439L exm86172 1 115166128 [A/G] NM_198459,NM_001256404 DENND2C,DENND2C EXON Missense_Y315H,Missense_Y315H exm86173 1 115166137 [T/C] NM_198459,NM_001256404 DENND2C,DENND2C EXON Missense_D312N,Missense_D312N exm86189 1 115167939 [A/G] NM_198459,NM_001256404 DENND2C,DENND2C EXON Missense_S223P,Missense_S223P exm86192 1 115167999 [T/A] NM_198459,NM_001256404 DENND2C,DENND2C EXON Missense_C203S,Missense_C203S exm86196 1 115168068 [A/C] NM_198459,NM_001256404 DENND2C,DENND2C EXON Missense_V180F,Missense_V180F exm86197 1 115168097 [T/C] NM_198459,NM_001256404 DENND2C,DENND2C EXON Missense_D170G,Missense_D170G exm86199 1 115168119 [A/T] NM_198459,NM_001256404 DENND2C,DENND2C EXON Missense_N163Y,Missense_N163Y exm86200 1 115168143 [T/C] NM_198459,NM_001256404 DENND2C,DENND2C EXON Missense_A155T,Missense_A155T exm86204 1 115168226 [T/C] NM_198459,NM_001256404 DENND2C,DENND2C EXON Missense_C127Y,Missense_C127Y exm86208 1 115168303 [T/G] NM_198459,NM_001256404 DENND2C,DENND2C EXON Missense_E101D,Missense_E101D exm86216 1 115168440 [T/G] NM_198459,NM_001256404 DENND2C,DENND2C EXON Missense_I56L,Missense_I56L exm86217 1 115168466 [T/C] NM_198459,NM_001256404 DENND2C,DENND2C EXON Missense_G47E,Missense_G47E exm86218 1 115168480 [A/C] NM_198459,NM_001256404 DENND2C,DENND2C EXON Missense_C42W,Missense_C42W exm86220 1 115168586 [T/C] NM_198459,NM_001256404 DENND2C,DENND2C EXON Missense_R7H,Missense_R7H exm86221 1 115168600 [T/A] NM_198459,NM_001256404 DENND2C,DENND2C EXON Missense_D2E,Missense_D2E exm86226 1 115215796 [T/C] NM_000036,NM_001172626 AMPD1,AMPD1 EXON Missense_R761H,Missense_R757H exm86228 1 115215833 [A/G] NM_000036,NM_001172626 AMPD1,AMPD1 EXON Missense_R749W,Missense_R745W exm86234 1 115216359 [T/C] NM_000036,NM_001172626 AMPD1,AMPD1 EXON Missense_M695I,Missense_M691I exm86235 1 115216529 [T/C] NM_000036,NM_001172626 AMPD1,AMPD1 Silent,Silent exm86245 1 115217379 [T/A] NM_000036,NM_001172626 AMPD1,AMPD1 EXON Missense_L631F,Missense_L627F exm86258 1 115218613 [T/C] NM_000036,NM_001172626 AMPD1,AMPD1 EXON Missense_R500H,Missense_R496H exm86274 1 115220593 [A/G] NM_000036,NM_001172626 AMPD1,AMPD1 EXON Missense_R421W,Missense_R417W exm86283 1 115221075 [T/C] NM_000036,NM_001172626 AMPD1,AMPD1 EXON Missense_Q357R,Missense_Q353R exm86287 1 115221116 [A/C] NM_000036,NM_001172626 AMPD1,AMPD1 EXON Missense_M343I,Missense_M339I exm86292 1 115222237 [A/T] NM_000036,NM_001172626 AMPD1,AMPD1 EXON Missense_K320I,Missense_K316I exm86301 1 115222959 [T/C] NM_000036,NM_001172626 AMPD1,AMPD1 EXON Missense_K263E,Missense_K259E exm86310 1 115226855 [T/C] NM_000036,NM_001172626 AMPD1,AMPD1 EXON Missense_G204D,Missense_G200D exm86318 1 115226973 [T/C] NM_000036,NM_001172626 AMPD1,AMPD1 EXON Missense_D165N,Missense_D161N exm86319 1 115229365 [C/G] NM_000036,NM_001172626 AMPD1,AMPD1 Silent,Silent exm86320 1 115229413 [T/C] NM_000036,NM_001172626 AMPD1,AMPD1 EXON Missense_V145M,Missense_V141M exm86324 1 115229512 [A/G] NM_000036,NM_001172626 AMPD1,AMPD1 EXON Missense_R112W,Missense_R108W exm86325 1 115229523 [T/C] NM_000036,NM_001172626 AMPD1,AMPD1 EXON Missense_R108H,Missense_R104H exm86327 1 115231197 [A/G] NM_000036,NM_001172626 AMPD1,AMPD1 EXON Missense_S100F,Missense_S96F exm86332 1 115231254 [A/G] NM_000036,NM_001172626 AMPD1,AMPD1 EXON Missense_P81L,Missense_P77L exm86344 1 115236056 [T/C] NM_000036,NM_001172626 AMPD1,AMPD1 Silent,Silent exm86345 1 115236057 [A/G] NM_000036,NM_001172626 AMPD1,AMPD1 EXON Nonsense_Q45X,Silent exm2273331 1 115260781 [T/G] NM_001242891,NM_001007553,NM_001242892,NM_007158,NM_001242893,NM_001130523 CSDE1,CSDE1,CSDE1,CSDE1,CSDE1,CSDE1 EXON Silent,Silent,Silent,Silent,Silent,Silent exm86367 1 115260809 [T/G] NM_001242891,NM_001007553,NM_001242892,NM_007158,NM_001242893,NM_001130523 CSDE1,CSDE1,CSDE1,CSDE1,CSDE1,CSDE1 EXON Missense_Q839P,Missense_Q793P,Missense_Q793P,Missense_Q762P,Missense_Q762P,Missense_Q808P exm86378 1 115262319 [A/G] NM_001242891,NM_001007553,NM_001242892,NM_007158,NM_001242893,NM_001130523 CSDE1,CSDE1,CSDE1,CSDE1,CSDE1,CSDE1 EXON Synonymous_F745F,Synonymous_F699F,Synonymous_F699F,Synonymous_F668F,Synonymous_F668F,Synonymous_F714F exm86387 1 115263247 [T/C] NM_001242891,NM_001007553,NM_001242892,NM_007158,NM_001242893,NM_001130523 CSDE1,CSDE1,CSDE1,CSDE1,CSDE1,CSDE1 EXON Synonymous_Q701Q,Synonymous_Q655Q,Synonymous_Q655Q,Synonymous_Q624Q,Synonymous_Q624Q,Synonymous_Q670Q exm86392 1 115266559 [T/C] NM_001242891,NM_001007553,NM_001242892,NM_007158,NM_001242893,NM_001130523 CSDE1,CSDE1,CSDE1,CSDE1,CSDE1,CSDE1 EXON Synonymous_R652R,Synonymous_R606R,Synonymous_R606R,Synonymous_R575R,Synonymous_R575R,Synonymous_R621R exm86402 1 115268944 [A/G] NM_001242891,NM_001007553,NM_001242892,NM_007158,NM_001242893,NM_001130523 CSDE1,CSDE1,CSDE1,CSDE1,CSDE1,CSDE1 EXON Synonymous_L556L,Synonymous_L510L,Synonymous_L510L,Synonymous_L479L,Synonymous_L479L,Synonymous_L525L exm86411 1 115272916 [T/C] NM_001242891,NM_001007553,NM_001242892,NM_007158,NM_001242893,NM_001130523 CSDE1,CSDE1,CSDE1,CSDE1,CSDE1,CSDE1 EXON Missense_N486S,Missense_N440S,Missense_N440S,Missense_N409S,Missense_N409S,Missense_N455S exm86421 1 115273144 [T/C] NM_001242891,NM_001007553,NM_001242892,NM_007158,NM_001242893,NM_001130523 CSDE1,CSDE1,CSDE1,CSDE1,CSDE1,CSDE1 EXON Synonymous_E438E,Synonymous_E392E,Synonymous_E392E,Synonymous_E361E,Synonymous_E361E,Synonymous_E407E exm86428 1 115275363 [T/C] NM_001242891,NM_001007553,NM_001242892,NM_007158,NM_001242893,NM_001130523 CSDE1,CSDE1,CSDE1,CSDE1,CSDE1,CSDE1 EXON Synonymous_T350T,Synonymous_T304T,Synonymous_T304T,Synonymous_T273T,Synonymous_T273T,Synonymous_T319T exm86435 1 115277136 [A/G] NM_001242891,NM_001007553,NM_001242892,NM_007158,NM_001242893,NM_001130523 CSDE1,CSDE1,CSDE1,CSDE1,CSDE1,CSDE1 EXON Missense_A216V,Missense_A170V,Missense_A170V,Missense_A139V,Missense_A139V,Missense_A185V exm86441 1 115280587 [T/G] NM_001242891,NM_001007553,NM_001242892,NM_007158,NM_001242893,NM_001130523 CSDE1,CSDE1,CSDE1,CSDE1,CSDE1,CSDE1 EXON Synonymous_G148G,Synonymous_G102G,Synonymous_G102G,Synonymous_G102G,Synonymous_G102G,Synonymous_G148G exm1702572 1 115316921 [T/C] NR_049741,NR_049742,NM_001102396,NM_025073 SIKE1,SIKE1,SIKE1,SIKE1 EXON Silent,Silent,Missense_M203V,Missense_M199V exm86481 1 115323219 [T/C] NR_049741,NR_049742,NM_001102396,NM_025073 SIKE1,SIKE1,SIKE1,SIKE1 EXON Silent,Silent,Missense_T4A,Missense_T4A exm86494 1 115400087 [A/G] NM_003176 SYCP1 EXON Missense_Y87C exm86506 1 115417175 [A/G] NM_003176 SYCP1 EXON Missense_N216S exm2268741 1 115427218 [T/C] NM_003176 SYCP1 Silent exm86516 1 115428783 [T/C] NM_003176 SYCP1 EXON Missense_A348V exm86518 1 115428840 [A/C] NM_003176 SYCP1 EXON Missense_N367T exm86523 1 115428895 [G/C] NM_003176 SYCP1 EXON Missense_C385W exm1702622 1 115453062 [T/G] NM_003176 SYCP1 EXON Missense_K455N exm86536 1 115455661 [A/G] NM_003176 SYCP1 EXON Missense_N513D exm86538 1 115455679 [A/C] NM_003176 SYCP1 EXON Missense_H519N exm86547 1 115466098 [G/C] NM_003176 SYCP1 EXON Missense_L583V exm86560 1 115487521 [A/C] NM_003176 SYCP1 EXON Missense_E691A exm86563 1 115489865 [A/G] NM_003176 SYCP1 Silent exm86564 1 115489879 [T/G] NM_003176 SYCP1 EXON Missense_S754A exm86578 1 115527364 [T/C] NM_003176 SYCP1 EXON Missense_P860S exm86579 1 115527431 [A/G] NM_003176 SYCP1 EXON Missense_R882K exm86587 1 115537367 [A/C] NM_003176 SYCP1 EXON Missense_N918H exm86594 1 115537632 [A/T] NM_003176 SYCP1 EXON Missense_F975I exm86608 1 115576727 [T/C] NM_000549 TSHB EXON Missense_V99A exm86619 1 115593151 [A/G] NM_005725 TSPAN2 EXON Missense_V209A exm86620 1 115593158 [T/A] NM_005725 TSPAN2 EXON Missense_S207C exm86630 1 115601504 [T/C] NM_005725 TSPAN2 EXON Synonymous_T148T exm86633 1 115601595 [A/C] NM_005725 TSPAN2 EXON Missense_R118L exm86640 1 115604804 [T/G] NM_005725 TSPAN2 EXON Missense_F74L exm86650 1 115615583 [G/C] NM_005725 TSPAN2 EXON Missense_G39R exm2265038 1 115658497 [A/G] exm-rs195204 1 115734091 [T/C] exm2268742 1 115797624 [T/C] exm86667 1 115828864 [T/C] NM_002506 NGF EXON Missense_V185I exm86671 1 115828972 [T/C] NM_002506 NGF EXON Missense_A149T exm86682 1 115829133 [T/C] NM_002506 NGF EXON Missense_R95H exm86684 1 115829160 [T/C] NM_002506 NGF EXON Missense_R86H exm86687 1 115829170 [A/G] NM_002506 NGF EXON Missense_R83C exm86697 1 115829313 [A/G] NM_002506 NGF EXON Missense_A35V exm86707 1 116202263 [A/G] NM_001172411,NM_138959,NM_001172412 VANGL1,VANGL1,VANGL1 EXON Missense_E25K,Missense_E25K,Missense_E25K exm86709 1 116202288 [T/C] NM_001172411,NM_138959,NM_001172412 VANGL1,VANGL1,VANGL1 EXON Missense_S33L,Missense_S33L,Missense_S33L exm86719 1 116206384 [A/G] NM_001172411,NM_138959,NM_001172412 VANGL1,VANGL1,VANGL1 EXON Missense_V101M,Missense_V103M,Missense_V103M exm86721 1 116206400 [A/G] NM_001172411,NM_138959,NM_001172412 VANGL1,VANGL1,VANGL1 EXON Missense_K106R,Missense_K108R,Missense_K108R exm2249709 1 116206407 [T/C] NM_001172411,NM_138959,NM_001172412 VANGL1,VANGL1,VANGL1 EXON Synonymous_Y108Y,Synonymous_Y110Y,Synonymous_Y110Y exm86727 1 116206423 [A/G] NM_001172411,NM_138959,NM_001172412 VANGL1,VANGL1,VANGL1 EXON Missense_A114T,Missense_A116T,Missense_A116T exm86735 1 116206600 [T/C] NM_001172411,NM_138959,NM_001172412 VANGL1,VANGL1,VANGL1 EXON Missense_R173W,Missense_R175W,Missense_R175W exm86736 1 116206614 [A/G] NM_001172411,NM_138959,NM_001172412 VANGL1,VANGL1,VANGL1 EXON Missense_M177I,Missense_M179I,Missense_M179I exm86752 1 116206843 [T/C] NM_001172411,NM_138959,NM_001172412 VANGL1,VANGL1,VANGL1 EXON Missense_R254C,Missense_R256C,Missense_R256C exm86760 1 116225040 [T/C] NM_001172411,NM_138959,NM_001172412 VANGL1,VANGL1,VANGL1 EXON Missense_Y288H,Missense_Y290H,Missense_Y290H exm86771 1 116226631 [A/C] NM_001172411,NM_138959,NM_001172412 VANGL1,VANGL1,VANGL1 EXON Nonsense_S336X,Nonsense_S338X,Nonsense_S338X exm86773 1 116226658 [A/C] NM_001172411,NM_138959,NM_001172412 VANGL1,VANGL1,VANGL1 EXON Missense_E345A,Missense_E347A,Missense_E347A exm1702870 1 116227961 [A/G] NM_001172411,NM_138959,NM_001172412 VANGL1,VANGL1,VANGL1 EXON Missense_Q374R,Missense_Q376R,Missense_Q376R exm86781 1 116228000 [A/G] NM_001172411,NM_138959,NM_001172412 VANGL1,VANGL1,VANGL1 EXON Missense_D387G,Missense_D389G,Missense_D389G exm86782 1 116228006 [T/G] NM_001172411,NM_138959,NM_001172412 VANGL1,VANGL1,VANGL1 EXON Missense_R389M,Missense_R391M,Missense_R391M exm86787 1 116228134 [A/G] NM_001172411,NM_138959,NM_001172412 VANGL1,VANGL1,VANGL1 EXON Missense_G432S,Missense_G434S,Missense_G434S exm86796 1 116233974 [T/C] NM_001172411,NM_138959,NM_001172412 VANGL1,VANGL1,VANGL1 EXON Missense_R515C,Missense_R517C,Missense_R517C exm86813 1 116244031 [T/A] NM_001232 CASQ2 EXON Missense_M344K exm86817 1 116245571 [A/G] NM_001232 CASQ2 EXON Missense_P329S exm86820 1 116247824 [T/C] NM_001232 CASQ2 EXON Missense_D310N exm86826 1 116247878 [A/C] NM_001232 CASQ2 EXON Missense_A292S exm86839 1 116269619 [T/C] NM_001232 CASQ2 EXON Missense_H244R exm86840 1 116269620 [A/G] NM_001232 CASQ2 EXON Missense_H244Y exm86843 1 116275561 [G/C] NM_001232 CASQ2 EXON Missense_F189L exm2249711 1 116278503 [A/C] NM_001232 CASQ2 Silent exm86847 1 116280895 [A/G] NM_001232 CASQ2 EXON Missense_I161T exm86848 1 116280896 [T/C] NM_001232 CASQ2 EXON Missense_I161V exm86859 1 116310937 [T/C] NM_001232 CASQ2 EXON Missense_V76M exm86861 1 116310967 [T/C] NM_001232 CASQ2 EXON Missense_T66A exm86891 1 116519313 [T/G] NM_018420 SLC22A15 EXON Missense_F22C exm86894 1 116534789 [A/G] NM_018420 SLC22A15 EXON Nonsense_W75X exm86895 1 116534797 [T/C] NM_018420 SLC22A15 EXON Missense_T78I exm86898 1 116534839 [C/G] NM_018420 SLC22A15 EXON Missense_S92T exm86906 1 116562272 [T/G] NM_018420 SLC22A15 EXON Missense_V124F exm86909 1 116562310 [C/G] NM_018420 SLC22A15 EXON Missense_F136L exm86923 1 116569622 [T/C] NM_018420 SLC22A15 EXON Missense_T236M exm86925 1 116574034 [A/G] NM_018420 SLC22A15 EXON Missense_S259N exm1702984 1 116577879 [A/G] NM_018420 SLC22A15 EXON Missense_N339S exm86951 1 116609198 [A/G] NM_018420 SLC22A15 EXON Missense_G475S exm86956 1 116609280 [A/G] NM_018420 SLC22A15 EXON Missense_R502H exm2273332 1 116610388 [A/G] NM_018420 SLC22A15 EXON Silent exm86965 1 116663566 [A/G] NM_152367 MAB21L3 EXON Missense_R21H exm86978 1 116666736 [T/C] NM_152367 MAB21L3 EXON Missense_A80V exm86993 1 116666907 [T/C] NM_152367 MAB21L3 EXON Missense_I137T exm86994 1 116666936 [T/C] NM_152367 MAB21L3 EXON Missense_R147W exm86995 1 116670087 [A/G] NM_152367 MAB21L3 EXON Missense_G161D exm87010 1 116670770 [T/G] NM_152367 MAB21L3 EXON Missense_F222C exm87016 1 116670844 [T/G] NM_152367 MAB21L3 EXON Nonsense_E247X exm87018 1 116670871 [T/C] NM_152367 MAB21L3 EXON Missense_R256C exm87022 1 116670935 [T/C] NM_152367 MAB21L3 EXON Missense_P277L exm87034 1 116675885 [T/C] NM_152367 MAB21L3 EXON Missense_R330W exm87037 1 116675909 [A/G] NM_152367 MAB21L3 EXON Missense_T338A exm2249712 1 116716281 [T/C] exm2268927 1 116887742 [T/C] exm87099 1 116937809 [A/G] NM_000701,NM_001160233,NM_001160234,NR_027646 ATP1A1,ATP1A1,ATP1A1,ATP1A1OS EXON Missense_I580V,Missense_I580V,Missense_I549V,Silent exm87100 1 116937815 [A/G] NM_000701,NM_001160233,NM_001160234,NR_027646 ATP1A1,ATP1A1,ATP1A1,ATP1A1OS EXON Missense_N582D,Missense_N582D,Missense_N551D,Silent exm87175 1 117086941 [T/A] NR_026665,NM_001779,NM_001144822 CD58,CD58,CD58 EXON Silent,Missense_Y119F,Missense_Y119F exm1703172 1 117087019 [T/C] NR_026665,NM_001779,NM_001144822 CD58,CD58,CD58 EXON Silent,Missense_Y93C,Missense_Y93C exm2230872 1 117087167 [A/G] NR_026665,NM_001779,NM_001144822 CD58,CD58,CD58 EXON Silent,Missense_H44Y,Missense_H44Y exm87184 1 117087176 [T/C] NR_026665,NM_001779,NM_001144822 CD58,CD58,CD58 EXON Silent,Missense_V41I,Missense_V41I exm87187 1 117087208 [T/G] NR_026665,NM_001779,NM_001144822 CD58,CD58,CD58 EXON Silent,Missense_S30Y,Missense_S30Y exm-rs1335532 1 117100957 [A/G] NR_026665,NM_001779,NM_001144822 CD58,CD58,CD58 Silent,Silent,Silent exm-rs2300747 1 117104215 [A/G] NR_026665,NM_001779,NM_001144822 CD58,CD58,CD58 Silent,Silent,Silent exm87191 1 117113552 [T/C] NR_026665,NM_001779,NM_001144822 CD58,CD58,CD58 EXON Silent,Missense_S15G,Missense_S15G exm87199 1 117120134 [T/C] NM_001542,NM_001007237 IGSF3,IGSF3 EXON Missense_V1149I,Missense_V1129I exm87205 1 117122064 [T/C] NM_001542,NM_001007237 IGSF3,IGSF3 EXON Missense_R1115Q,Missense_R1095Q exm87208 1 117122130 [T/C] NM_001542,NM_001007237 IGSF3,IGSF3 EXON Missense_Q1093R,Missense_Q1073R exm87217 1 117122281 [T/C] NM_001542,NM_001007237 IGSF3,IGSF3 EXON Missense_D1043N,Missense_D1023N exm87226 1 117122355 [G/C] NM_001542,NM_001007237 IGSF3,IGSF3 EXON Missense_G1018A,Missense_G998A exm87234 1 117127386 [A/C] NM_001542,NM_001007237 IGSF3,IGSF3 EXON Missense_V930G,Missense_V910G exm87235 1 117127393 [T/C] NM_001542,NM_001007237 IGSF3,IGSF3 EXON Missense_V928M,Missense_V908M exm87236 1 117127410 [T/C] NM_001542,NM_001007237 IGSF3,IGSF3 EXON Missense_R922H,Missense_R902H exm87238 1 117127417 [T/C] NM_001542,NM_001007237 IGSF3,IGSF3 EXON Missense_V920M,Missense_V900M exm87246 1 117127644 [T/C] NM_001542,NM_001007237 IGSF3,IGSF3 EXON Missense_G844E,Missense_G824E exm87268 1 117131588 [A/G] NM_001542,NM_001007237 IGSF3,IGSF3 EXON Missense_S743L,Missense_S723L exm87309 1 117142848 [A/C] NM_001542,NM_001007237 IGSF3,IGSF3 EXON Missense_W602G,Missense_W582G exm2230879 1 117150609 [T/C] NM_001542,NM_001007237 IGSF3,IGSF3 EXON Missense_E393K,Missense_E393K exm2230882 1 117156651 [A/C] NM_001542,NM_001007237 IGSF3,IGSF3 EXON Nonsense_E190X,Nonsense_E190X exm87419 1 117297327 [C/G] NM_001767 CD2 EXON Missense_P46A exm87426 1 117303069 [T/C] NM_001767 CD2 EXON Missense_T143I exm87433 1 117303227 [A/T] NM_001767 CD2 EXON Missense_S196T exm2264894 1 117304100 [A/G] NM_001767 CD2 Silent exm87443 1 117311147 [A/C] NM_001767 CD2 EXON Missense_H266Q exm87444 1 117311157 [A/G] NM_001767 CD2 EXON Missense_A270T exm87455 1 117311364 [A/C] NM_001767 CD2 EXON Missense_H339N exm87458 1 117311389 [T/C] NM_001767 CD2 EXON Missense_S347F exm87459 1 117311391 [T/C] NM_001767 CD2 EXON Missense_P348S exm2268928 1 117448282 [T/C] exm-rs2806864 1 117469781 [G/C] NM_020440 PTGFRN Silent exm87482 1 117487567 [A/G] NM_020440 PTGFRN EXON Missense_A229T exm87484 1 117487607 [A/G] NM_020440 PTGFRN EXON Missense_Q242R exm87485 1 117487613 [T/C] NM_020440 PTGFRN EXON Missense_S244F exm87487 1 117487679 [T/C] NM_020440 PTGFRN EXON Missense_A266V exm87506 1 117492009 [T/C] NM_020440 PTGFRN EXON Missense_S343L exm87507 1 117492067 [T/G] NM_020440 PTGFRN EXON Missense_D362E exm87508 1 117492122 [A/G] NM_020440 PTGFRN EXON Missense_G381R exm87515 1 117503940 [A/G] NM_020440 PTGFRN EXON Missense_R430Q exm87517 1 117503976 [A/G] NM_020440 PTGFRN EXON Missense_R442Q exm87524 1 117504056 [A/G] NM_020440 PTGFRN EXON Missense_G469R exm87526 1 117504129 [T/A] NM_020440 PTGFRN EXON Missense_E493V exm87533 1 117509534 [T/C] NM_020440 PTGFRN EXON Synonymous_D547D exm87549 1 117516858 [A/G] NM_020440 PTGFRN EXON Missense_V694M exm2249721 1 117516938 [T/G] NM_020440 PTGFRN EXON Synonymous_L720L exm87559 1 117527397 [A/G] NM_020440 PTGFRN EXON Missense_V755M exm87563 1 117527445 [A/G] NM_020440 PTGFRN EXON Missense_V771M exm87573 1 117529458 [A/G] NM_020440 PTGFRN EXON Missense_V837I exm2264895 1 117531911 [A/G] NM_020440 PTGFRN EXON Silent exm87582 1 117552529 [G/C] NM_004258,NM_001256111,NM_001256109,NM_001256106 CD101,CD101,CD101,CD101 EXON Missense_A34G,Missense_A34G,Missense_A34G,Missense_A34G exm87587 1 117552592 [T/A] NM_004258,NM_001256111,NM_001256109,NM_001256106 CD101,CD101,CD101,CD101 EXON Missense_H55L,Missense_H55L,Missense_H55L,Missense_H55L exm87588 1 117552637 [A/T] NM_004258,NM_001256111,NM_001256109,NM_001256106 CD101,CD101,CD101,CD101 EXON Missense_V70D,Missense_V70D,Missense_V70D,Missense_V70D exm2230888 1 117552639 [T/C] NM_004258,NM_001256111,NM_001256109,NM_001256106 CD101,CD101,CD101,CD101 EXON Nonsense_Q71X,Nonsense_Q71X,Nonsense_Q71X,Nonsense_Q71X exm87589 1 117552675 [A/G] NM_004258,NM_001256111,NM_001256109,NM_001256106 CD101,CD101,CD101,CD101 EXON Missense_A83T,Missense_A83T,Missense_A83T,Missense_A83T exm87593 1 117552727 [A/G] NM_004258,NM_001256111,NM_001256109,NM_001256106 CD101,CD101,CD101,CD101 EXON Missense_Q100R,Missense_Q100R,Missense_Q100R,Missense_Q100R exm87597 1 117552805 [A/C] NM_004258,NM_001256111,NM_001256109,NM_001256106 CD101,CD101,CD101,CD101 EXON Missense_T126N,Missense_T126N,Missense_T126N,Missense_T126N exm87598 1 117552820 [A/G] NM_004258,NM_001256111,NM_001256109,NM_001256106 CD101,CD101,CD101,CD101 EXON Missense_Y131C,Missense_Y131C,Missense_Y131C,Missense_Y131C exm87603 1 117554216 [A/G] NM_004258,NM_001256111,NM_001256109,NM_001256106 CD101,CD101,CD101,CD101 EXON Missense_G157S,Silent,Missense_G157S,Missense_G157S exm87605 1 117554352 [T/C] NM_004258,NM_001256111,NM_001256109,NM_001256106 CD101,CD101,CD101,CD101 EXON Missense_S202F,Silent,Missense_S202F,Missense_S202F exm87609 1 117554421 [A/G] NM_004258,NM_001256111,NM_001256109,NM_001256106 CD101,CD101,CD101,CD101 EXON Missense_N225S,Missense_N163S,Missense_N225S,Missense_N225S exm87622 1 117556165 [A/G] NM_004258,NM_001256111,NM_001256109,NM_001256106 CD101,CD101,CD101,CD101 EXON Missense_A327T,Missense_A265T,Missense_A327T,Missense_A327T exm87625 1 117556224 [A/T] NM_004258,NM_001256111,NM_001256109,NM_001256106 CD101,CD101,CD101,CD101 EXON Missense_S346R,Missense_S284R,Missense_S346R,Missense_S346R exm87628 1 117556271 [T/C] NM_004258,NM_001256111,NM_001256109,NM_001256106 CD101,CD101,CD101,CD101 EXON Missense_L362P,Missense_L300P,Missense_L362P,Missense_L362P exm87630 1 117556307 [T/C] NM_004258,NM_001256111,NM_001256109,NM_001256106 CD101,CD101,CD101,CD101 EXON Missense_A374V,Missense_A312V,Missense_A374V,Missense_A374V exm1703682 1 117559721 [T/C] NM_004258,NM_001256111,NM_001256109,NM_001256106 CD101,CD101,CD101,CD101 EXON Missense_V413A,Missense_V351A,Missense_V413A,Missense_V413A exm87640 1 117559726 [A/G] NM_004258,NM_001256111,NM_001256109,NM_001256106 CD101,CD101,CD101,CD101 EXON Missense_M415V,Missense_M353V,Missense_M415V,Missense_M415V exm87645 1 117559837 [T/C] NM_004258,NM_001256111,NM_001256109,NM_001256106 CD101,CD101,CD101,CD101 EXON Missense_R452W,Missense_R390W,Missense_R452W,Missense_R452W exm87652 1 117559893 [T/G] NM_004258,NM_001256111,NM_001256109,NM_001256106 CD101,CD101,CD101,CD101 EXON Missense_Q470H,Missense_Q408H,Missense_Q470H,Missense_Q470H exm87657 1 117560036 [A/G] NM_004258,NM_001256111,NM_001256109,NM_001256106 CD101,CD101,CD101,CD101 EXON Missense_R518Q,Missense_R456Q,Missense_R518Q,Missense_R518Q exm87658 1 117560058 [G/C] NM_004258,NM_001256111,NM_001256109,NM_001256106 CD101,CD101,CD101,CD101 EXON Missense_S525R,Missense_S463R,Missense_S525R,Missense_S525R exm1703688 1 117560779 [A/G] NM_004258,NM_001256111,NM_001256109,NM_001256106 CD101,CD101,CD101,CD101 EXON Synonymous_E538E,Synonymous_E476E,Synonymous_E538E,Synonymous_E538E exm87665 1 117560831 [A/G] NM_004258,NM_001256111,NM_001256109,NM_001256106 CD101,CD101,CD101,CD101 EXON Missense_N556D,Missense_N494D,Missense_N556D,Missense_N556D exm2273680 1 117560898 [T/C] NM_004258,NM_001256111,NM_001256109,NM_001256106 CD101,CD101,CD101,CD101 EXON Missense_T578M,Missense_T516M,Missense_T578M,Missense_T578M exm87674 1 117560990 [T/C] NM_004258,NM_001256111,NM_001256109,NM_001256106 CD101,CD101,CD101,CD101 EXON Missense_R609W,Missense_R547W,Missense_R609W,Missense_R609W exm87676 1 117561015 [T/C] NM_004258,NM_001256111,NM_001256109,NM_001256106 CD101,CD101,CD101,CD101 EXON Missense_S617L,Missense_S555L,Missense_S617L,Missense_S617L exm87677 1 117561030 [A/G] NM_004258,NM_001256111,NM_001256109,NM_001256106 CD101,CD101,CD101,CD101 EXON Missense_R622H,Missense_R560H,Missense_R622H,Missense_R622H exm87683 1 117564288 [A/G] NM_004258,NM_001256111,NM_001256109,NM_001256106 CD101,CD101,CD101,CD101 EXON Missense_N704S,Missense_N642S,Missense_N704S,Missense_N704S exm1703695 1 117564315 [A/G] NM_004258,NM_001256111,NM_001256109,NM_001256106 CD101,CD101,CD101,CD101 EXON Nonsense_W713X,Nonsense_W651X,Nonsense_W713X,Nonsense_W713X exm87686 1 117564416 [A/G] NM_004258,NM_001256111,NM_001256109,NM_001256106 CD101,CD101,CD101,CD101 EXON Missense_R747G,Missense_R685G,Missense_R747G,Missense_R747G exm87690 1 117564491 [A/G] NM_004258,NM_001256111,NM_001256109,NM_001256106 CD101,CD101,CD101,CD101 EXON Missense_D772N,Missense_D710N,Missense_D772N,Missense_D772N exm87698 1 117568200 [A/G] NM_004258,NM_001256111,NM_001256109,NM_001256106 CD101,CD101,CD101,CD101 EXON Missense_R833H,Missense_R771H,Missense_R833H,Missense_R833H exm87699 1 117568202 [T/C] NM_004258,NM_001256111,NM_001256109,NM_001256106 CD101,CD101,CD101,CD101 EXON Missense_C834R,Missense_C772R,Missense_C834R,Missense_C834R exm87701 1 117568217 [A/G] NM_004258,NM_001256111,NM_001256109,NM_001256106 CD101,CD101,CD101,CD101 EXON Missense_V839I,Missense_V777I,Missense_V839I,Missense_V839I exm87704 1 117568358 [T/C] NM_004258,NM_001256111,NM_001256109,NM_001256106 CD101,CD101,CD101,CD101 EXON Missense_R886C,Missense_R824C,Missense_R886C,Missense_R886C exm87711 1 117568500 [A/G] NM_004258,NM_001256111,NM_001256109,NM_001256106 CD101,CD101,CD101,CD101 EXON Missense_R933Q,Missense_R871Q,Missense_R933Q,Missense_R933Q exm1703701 1 117568514 [A/G] NM_004258,NM_001256111,NM_001256109,NM_001256106 CD101,CD101,CD101,CD101 EXON Missense_V938M,Missense_V876M,Missense_V938M,Missense_V938M exm87717 1 117576522 [A/T] NM_004258,NM_001256111,NM_001256109,NM_001256106 CD101,CD101,CD101,CD101 EXON Missense_L955F,Missense_L893F,Missense_L955F,Missense_L955F exm87719 1 117576544 [C/G] NM_004258,NM_001256111,NM_001256109,NM_001256106 CD101,CD101,CD101,CD101 EXON Missense_P963A,Missense_P901A,Missense_P963A,Missense_P963A exm87720 1 117576550 [A/G] NM_004258,NM_001256111,NM_001256109,NM_001256106 CD101,CD101,CD101,CD101 EXON Missense_V965I,Missense_V903I,Missense_V965I,Missense_V965I exm87724 1 117576619 [T/C] NM_004258,NM_001256111,NM_001256109,NM_001256106 CD101,CD101,CD101,CD101 EXON Missense_R988C,Missense_R926C,Missense_R988C,Missense_R988C exm87725 1 117576631 [T/C] NM_004258,NM_001256111,NM_001256109,NM_001256106 CD101,CD101,CD101,CD101 EXON Missense_R992W,Missense_R930W,Missense_R992W,Missense_R992W exm87728 1 117576679 [A/G] NM_004258,NM_001256111,NM_001256109,NM_001256106 CD101,CD101,CD101,CD101 EXON Missense_T1008A,Missense_T946A,Missense_T1008A,Missense_T1008A exm87738 1 117603083 [T/C] NM_003594 TTF2 EXON Missense_F12S exm87741 1 117603131 [A/G] NM_003594 TTF2 EXON Missense_S28N exm2249723 1 117603156 [T/G] NM_003594 TTF2 EXON Synonymous_T36T exm87757 1 117617598 [A/G] NM_003594 TTF2 EXON Missense_K131R exm1703716 1 117617684 [A/G] NM_003594 TTF2 EXON Missense_D160N exm2230894 1 117617687 [C/G] NM_003594 TTF2 EXON Missense_Q161E exm87762 1 117617705 [A/G] NM_003594 TTF2 EXON Missense_K167E exm87767 1 117617844 [A/G] NM_003594 TTF2 EXON Missense_K213R exm87773 1 117617973 [A/G] NM_003594 TTF2 EXON Missense_E256G exm87775 1 117618024 [C/G] NM_003594 TTF2 EXON Missense_S273T exm87780 1 117618206 [T/C] NM_003594 TTF2 EXON Missense_P334S exm87781 1 117618235 [C/G] NM_003594 TTF2 EXON Missense_E343D exm87783 1 117618263 [A/G] NM_003594 TTF2 EXON Missense_D353N exm87784 1 117618311 [T/C] NM_003594 TTF2 EXON Missense_P369S exm87788 1 117618443 [T/C] NM_003594 TTF2 EXON Missense_R413W exm87798 1 117619355 [T/C] NM_003594 TTF2 EXON Missense_L495F exm87799 1 117619362 [A/G] NM_003594 TTF2 EXON Missense_R497H exm87800 1 117619365 [A/G] NM_003594 TTF2 EXON Missense_R498H exm87801 1 117619377 [G/C] NM_003594 TTF2 EXON Missense_P502R exm1703727 1 117620540 [A/C] NM_003594 TTF2 EXON Missense_H526N exm87806 1 117620553 [A/G] NM_003594 TTF2 EXON Missense_D530G exm87807 1 117620574 [A/G] NM_003594 TTF2 EXON Missense_K537R exm1703730 1 117620606 [T/C] NM_003594 TTF2 EXON Missense_R548C exm87808 1 117620607 [A/G] NM_003594 TTF2 EXON Missense_R548H exm87810 1 117620632 [T/G] NM_003594 TTF2 EXON Missense_E556D exm87817 1 117622238 [T/C] NM_003594 TTF2 EXON Nonsense_R584X exm87824 1 117624467 [A/G] NM_003594 TTF2 EXON Missense_G601R exm87830 1 117626751 [A/G] NM_003594 TTF2 EXON Missense_Y672C exm87831 1 117626760 [A/G] NM_003594 TTF2 EXON Missense_H675R exm1703735 1 117626781 [A/G] NM_003594 TTF2 EXON Missense_R682H exm87838 1 117629103 [A/C] NM_003594 TTF2 EXON Missense_K707Q exm87841 1 117631450 [T/G] NM_003594 TTF2 EXON Missense_A730S exm87843 1 117631471 [A/G] NM_003594 TTF2 EXON Missense_D737N exm87852 1 117633170 [A/G] NM_003594 TTF2 EXON Missense_R838H exm87863 1 117634507 [A/G] NM_003594 TTF2 EXON Missense_V914I exm87870 1 117635401 [A/G] NM_003594 TTF2 EXON Missense_E952K exm87871 1 117635413 [A/G] NM_003594 TTF2 EXON Missense_S956G exm87873 1 117635449 [T/C] NM_003594 TTF2 EXON Missense_P968S exm87878 1 117635504 [A/G] NM_003594 TTF2 EXON Missense_G986D exm87879 1 117635507 [T/C] NM_003594 TTF2 EXON Missense_M987T exm87888 1 117637990 [A/G] NM_003594 TTF2 Silent exm87893 1 117638841 [T/G] NM_003594 TTF2 EXON Missense_Y1036D exm87896 1 117638853 [A/G] NM_003594 TTF2 EXON Missense_D1040N exm87911 1 117644038 [A/T] NM_003594 TTF2 EXON Missense_L1127F exm87913 1 117644058 [A/G] NM_003594 TTF2 EXON Missense_K1134R exm87915 1 117644074 [A/C] NM_003594 TTF2 EXON Missense_Q1139H exm87917 1 117644120 [G/C] NM_003594 TTF2 EXON Missense_D1155H exm87939 1 117656026 [T/C] NM_001145635,NM_025188 TRIM45,TRIM45 EXON Missense_G499R,Missense_G517R exm87940 1 117656029 [T/C] NM_001145635,NM_025188 TRIM45,TRIM45 EXON Missense_S498G,Missense_S516G exm87942 1 117656065 [A/G] NM_001145635,NM_025188 TRIM45,TRIM45 EXON Missense_H486Y,Missense_H504Y exm87945 1 117656088 [A/G] NM_001145635,NM_025188 TRIM45,TRIM45 EXON Missense_M478T,Missense_M496T exm87946 1 117658229 [T/C] NM_001145635,NM_025188 TRIM45,TRIM45 EXON Missense_V461M,Missense_V479M exm87954 1 117659275 [T/C] NM_001145635,NM_025188 TRIM45,TRIM45 EXON Missense_V421I,Missense_V439I exm87955 1 117659283 [T/C] NM_001145635,NM_025188 TRIM45,TRIM45 EXON Missense_G418E,Missense_G436E exm87956 1 117659292 [T/C] NM_001145635,NM_025188 TRIM45,TRIM45 EXON Missense_G415D,Missense_G433D exm87958 1 117659352 [T/C] NM_001145635,NM_025188 TRIM45,TRIM45 EXON Missense_R395Q,Missense_R413Q exm87959 1 117659353 [A/G] NM_001145635,NM_025188 TRIM45,TRIM45 EXON Missense_R395W,Missense_R413W exm87965 1 117660754 [T/C] NM_001145635,NM_025188 TRIM45,TRIM45 EXON Missense_C375Y,Missense_C375Y exm87967 1 117660820 [T/C] NM_001145635,NM_025188 TRIM45,TRIM45 EXON Missense_R353Q,Missense_R353Q exm87968 1 117660839 [T/C] NM_001145635,NM_025188 TRIM45,TRIM45 EXON Missense_K347E,Missense_K347E exm87969 1 117660863 [A/G] NM_001145635,NM_025188 TRIM45,TRIM45 EXON Missense_S339P,Missense_S339P exm87970 1 117660868 [T/C] NM_001145635,NM_025188 TRIM45,TRIM45 EXON Missense_S337N,Missense_S337N exm87974 1 117661003 [T/C] NM_001145635,NM_025188 TRIM45,TRIM45 EXON Missense_R292Q,Missense_R292Q exm87981 1 117661312 [T/A] NM_001145635,NM_025188 TRIM45,TRIM45 EXON Missense_I189N,Missense_I189N exm87984 1 117661333 [T/C] NM_001145635,NM_025188 TRIM45,TRIM45 EXON Missense_Y182C,Missense_Y182C exm87986 1 117661378 [T/C] NM_001145635,NM_025188 TRIM45,TRIM45 EXON Missense_K167R,Missense_K167R exm87993 1 117663561 [T/G] NM_001145635,NM_025188 TRIM45,TRIM45 EXON Nonsense_S88X,Nonsense_S88X exm88001 1 117663711 [A/G] NM_001145635,NM_025188 TRIM45,TRIM45 EXON Missense_A38V,Missense_A38V exm88007 1 117663748 [T/C] NM_001145635,NM_025188 TRIM45,TRIM45 EXON Missense_K26E,Missense_K26E exm88018 1 117695862 [A/G] NM_001253849,NM_024626,NM_001253850,NR_045603,NR_045604 VTCN1,VTCN1,VTCN1,VTCN1,VTCN1 EXON Missense_S97L,Missense_S192L,Missense_S76L,Silent,Silent exm1703815 1 117695961 [T/G] NM_001253849,NM_024626,NM_001253850,NR_045603,NR_045604 VTCN1,VTCN1,VTCN1,VTCN1,VTCN1 EXON Missense_Y64S,Missense_Y159S,Missense_Y43S,Silent,Silent exm1703816 1 117699207 [T/C] NM_001253849,NM_024626,NM_001253850,NR_045603,NR_045604 VTCN1,VTCN1,VTCN1,VTCN1,VTCN1 EXON Missense_Y50C,Missense_Y145C,Silent,Silent,Silent exm88023 1 117699223 [T/G] NM_001253849,NM_024626,NM_001253850,NR_045603,NR_045604 VTCN1,VTCN1,VTCN1,VTCN1,VTCN1 EXON Missense_N45H,Missense_N140H,Silent,Silent,Silent exm2273681 1 117699283 [C/G] NM_001253849,NM_024626,NM_001253850,NR_045603,NR_045604 VTCN1,VTCN1,VTCN1,VTCN1,VTCN1 EXON Missense_V25L,Missense_V120L,Silent,Silent,Silent exm88035 1 117699514 [T/C] NM_001253849,NM_024626,NM_001253850,NR_045603,NR_045604 VTCN1,VTCN1,VTCN1,VTCN1,VTCN1 EXON Silent,Missense_A43T,Silent,Silent,Silent exm-rs12046117 1 117751365 [T/C] NM_024626,NM_001253850,NR_045603,NR_045604 VTCN1,VTCN1,VTCN1,VTCN1 Silent,Silent,Silent,Silent exm88061 1 117944964 [A/C] NM_006699 MAN1A2 EXON Missense_N153K exm88074 1 118003190 [A/C] NM_006699 MAN1A2 EXON Missense_I344L exm88082 1 118035850 [A/G] NM_006699 MAN1A2 EXON Missense_H417R exm88089 1 118039575 [A/G] NM_006699 MAN1A2 EXON Missense_R492H exm88093 1 118042046 [A/T] NM_006699 MAN1A2 EXON Missense_V516E exm88102 1 118065541 [A/G] NM_006699 MAN1A2 EXON Missense_A630T exm88111 1 118165536 [A/G] NM_017709 FAM46C EXON Missense_V16M exm88113 1 118165603 [A/G] NM_017709 FAM46C EXON Missense_R38Q exm88123 1 118165936 [T/C] NM_017709 FAM46C EXON Missense_T149I exm88137 1 118166331 [A/G] NM_017709 FAM46C EXON Missense_I281V exm88138 1 118166379 [A/G] NM_017709 FAM46C EXON Missense_A297T exm88139 1 118166385 [A/G] NM_017709 FAM46C EXON Missense_E299K exm2249728 1 118166402 [T/C] NM_017709 FAM46C EXON Synonymous_Y304Y exm88147 1 118166547 [A/G] NM_017709 FAM46C EXON Missense_V353I exm2268744 1 118249041 [T/C] exm88161 1 118420768 [T/C] NM_017686,NM_001135589 GDAP2,GDAP2 EXON Missense_T437A,Missense_T437A exm88172 1 118426147 [T/C] NM_017686,NM_001135589 GDAP2,GDAP2 EXON Missense_D404N,Missense_D404N exm88177 1 118430343 [A/G] NM_017686,NM_001135589 GDAP2,GDAP2 EXON Missense_S336F,Missense_S336F exm1704212 1 118441771 [A/G] NM_017686,NM_001135589 GDAP2,GDAP2 EXON Missense_P235L,Missense_P235L exm88192 1 118441837 [T/C] NM_017686,NM_001135589 GDAP2,GDAP2 EXON Missense_G213D,Missense_G213D exm88194 1 118449203 [C/G] NM_017686,NM_001135589 GDAP2,GDAP2 EXON Synonymous_R187R,Synonymous_R187R exm88198 1 118454694 [T/C] NM_017686,NM_001135589 GDAP2,GDAP2 EXON Missense_M161V,Missense_M161V exm88200 1 118455194 [T/C] NM_017686,NM_001135589 GDAP2,GDAP2 EXON Missense_S143N,Missense_S143N exm88201 1 118455215 [T/C] NM_017686,NM_001135589 GDAP2,GDAP2 EXON Missense_R136H,Missense_R136H exm88204 1 118461225 [A/G] NM_017686,NM_001135589 GDAP2,GDAP2 EXON Missense_L104F,Missense_L104F exm2249732 1 118462915 [T/C] NM_017686,NM_001135589 GDAP2,GDAP2 EXON Synonymous_S22S,Synonymous_S22S exm88226 1 118476052 [A/G] NM_006784 WDR3 EXON Missense_R37H exm88230 1 118477235 [A/G] NM_006784 WDR3 EXON Missense_N104S exm88246 1 118481173 [T/C] NM_006784 WDR3 EXON Missense_R191W exm88253 1 118483460 [T/C] NM_006784 WDR3 EXON Missense_P229L exm88255 1 118483474 [C/G] NM_006784 WDR3 EXON Missense_P234A exm88257 1 118483544 [T/C] NM_006784 WDR3 EXON Missense_T257M exm88260 1 118483748 [A/G] NM_006784 WDR3 EXON Missense_R264Q exm88262 1 118483784 [A/G] NM_006784 WDR3 EXON Missense_R276Q exm88273 1 118486119 [A/G] NM_006784 WDR3 EXON Missense_T400A exm88283 1 118488735 [T/C] NM_006784 WDR3 EXON Missense_M452T exm88289 1 118491052 [T/G] NM_006784 WDR3 EXON Missense_L483V exm88305 1 118492739 [A/G] NM_006784 WDR3 EXON Missense_V578I exm88341 1 118499801 [T/G] NM_006784,NM_206996 WDR3,SPAG17 EXON Missense_C855F,Silent exm88342 1 118499820 [A/G] NM_006784,NM_206996 WDR3,SPAG17 Silent,Silent exm2249734 1 118504265 [T/G] NM_206996 SPAG17 Silent exm88358 1 118506432 [A/G] NM_206996 SPAG17 EXON Missense_S2221F exm88359 1 118506438 [T/G] NM_206996 SPAG17 EXON Missense_K2219T exm88360 1 118506441 [T/C] NM_206996 SPAG17 EXON Missense_R2218H exm88364 1 118506531 [T/C] NM_206996 SPAG17 EXON Missense_R2188Q exm88370 1 118509284 [T/G] NM_206996 SPAG17 EXON Missense_H2160Q exm88371 1 118509289 [T/A] NM_206996 SPAG17 EXON Missense_S2159T exm88372 1 118509366 [T/C] NM_206996 SPAG17 EXON Missense_G2133D exm88376 1 118512719 [T/G] NM_206996 SPAG17 EXON Missense_P2116Q exm88387 1 118516082 [A/T] NM_206996 SPAG17 EXON Missense_L2036Q exm88395 1 118516181 [C/G] NM_206996 SPAG17 EXON Missense_A2003G exm2259741 1 118522545 [A/G] NM_206996 SPAG17 Silent exm88397 1 118523919 [A/G] NM_206996 SPAG17 EXON Missense_T1993I exm88409 1 118527339 [T/A] NM_206996 SPAG17 EXON Missense_F1912L exm1704353 1 118530457 [G/C] NM_206996 SPAG17 EXON Missense_R1890T exm88422 1 118534043 [A/C] NM_206996 SPAG17 EXON Missense_V1824F exm88425 1 118534138 [T/C] NM_206996 SPAG17 EXON Missense_Y1792C exm88431 1 118535211 [T/C] NM_206996 SPAG17 EXON Missense_K1747E exm88432 1 118535216 [T/G] NM_206996 SPAG17 EXON Missense_E1745A exm88438 1 118537076 [A/G] NM_206996 SPAG17 EXON Missense_P1711S exm88440 1 118537142 [T/C] NM_206996 SPAG17 EXON Missense_I1689V exm88444 1 118539079 [T/C] NM_206996 SPAG17 EXON Missense_R1656Q exm88448 1 118539252 [A/G] NM_206996 SPAG17 EXON Missense_H1631Y exm88455 1 118548044 [T/G] NM_206996 SPAG17 EXON Missense_T1590N exm88460 1 118548146 [A/G] NM_206996 SPAG17 EXON Missense_I1556T exm88466 1 118550765 [A/G] NM_206996 SPAG17 EXON Missense_R1497C exm88469 1 118550820 [A/G] NM_206996 SPAG17 EXON Synonymous_T1478T exm88478 1 118554982 [T/C] NM_206996 SPAG17 EXON Missense_R1434Q exm88479 1 118558595 [T/C] NM_206996 SPAG17 EXON Missense_N1427S exm2273682 1 118558707 [T/C] NM_206996 SPAG17 EXON Missense_I1390V exm88493 1 118565953 [A/G] NM_206996 SPAG17 EXON Missense_P1348L exm88496 1 118567865 [T/G] NM_206996 SPAG17 EXON Missense_T1302K exm88505 1 118567982 [T/G] NM_206996 SPAG17 EXON Missense_P1263H exm88506 1 118568010 [T/A] NM_206996 SPAG17 EXON Missense_W1254R exm88511 1 118574322 [A/T] NM_206996 SPAG17 EXON Missense_E1201V exm88516 1 118574439 [A/G] NM_206996 SPAG17 EXON Missense_T1162I exm88522 1 118579488 [T/C] NM_206996 SPAG17 EXON Missense_N1113S exm88524 1 118581916 [T/C] NM_206996 SPAG17 EXON Synonymous_T1106T exm88536 1 118583458 [T/C] NM_206996 SPAG17 EXON Missense_G1021R exm88542 1 118584460 [G/C] NM_206996 SPAG17 EXON Missense_S1007C exm88545 1 118584562 [T/C] NM_206996 SPAG17 EXON Missense_D973G exm88548 1 118584626 [A/G] NM_206996 SPAG17 EXON Missense_R952C exm2273683 1 118584643 [A/C] NM_206996 SPAG17 EXON Missense_R946L exm88550 1 118584644 [A/G] NM_206996 SPAG17 EXON Nonsense_R946X exm88553 1 118598362 [A/G] NM_206996 SPAG17 EXON Missense_S906P exm88556 1 118598415 [T/G] NM_206996 SPAG17 EXON Missense_S888Y exm88557 1 118598452 [T/C] NM_206996 SPAG17 EXON Missense_K876E exm88562 1 118609491 [A/C] NM_206996 SPAG17 EXON Missense_C806F exm88567 1 118617192 [A/C] NM_206996 SPAG17 EXON Missense_D747E exm88568 1 118617217 [G/C] NM_206996 SPAG17 EXON Missense_T739S exm88590 1 118628623 [C/G] NM_206996 SPAG17 EXON Missense_Q562E exm88599 1 118629525 [C/G] NM_206996 SPAG17 EXON Missense_P489R exm88603 1 118629592 [A/G] NM_206996 SPAG17 EXON Missense_R467W exm88606 1 118629607 [T/C] NM_206996 SPAG17 EXON Missense_V462I exm88611 1 118634278 [T/C] NM_206996 SPAG17 EXON Missense_R437Q exm88612 1 118634282 [T/C] NM_206996 SPAG17 EXON Missense_I436V exm88613 1 118634297 [A/C] NM_206996 SPAG17 EXON Missense_Y431D exm88634 1 118642395 [A/T] NM_206996 SPAG17 EXON Missense_H221Q exm88635 1 118642421 [T/C] NM_206996 SPAG17 EXON Missense_D213N exm88637 1 118644374 [T/C] NM_206996 SPAG17 EXON Missense_N208S exm88639 1 118644414 [T/G] NM_206996 SPAG17 EXON Missense_T195P exm88646 1 118644524 [A/T] NM_206996 SPAG17 EXON Missense_E158V exm88649 1 118657952 [T/C] NM_206996 SPAG17 EXON Missense_R143Q exm88656 1 118727698 [T/C] NM_206996 SPAG17 EXON Missense_N28S exm88658 1 118727720 [A/C] NM_206996 SPAG17 EXON Missense_S21A exm-rs17038182 1 118868405 [C/G] exm-rs12735613 1 118883973 [A/G] exm2263834 1 119016240 [A/C] exm-rs10923574 1 119030698 [A/C] exm2259744 1 119234198 [T/C] exm88670 1 119427467 [A/C] NM_152380 TBX15 EXON Missense_M460R exm88680 1 119427687 [G/C] NM_152380 TBX15 EXON Missense_P387A exm88686 1 119427839 [T/C] NM_152380 TBX15 EXON Missense_R336K exm88703 1 119441695 [T/C] NM_152380 TBX15 EXON Missense_R221H exm88704 1 119441705 [A/G] NM_152380 TBX15 EXON Missense_P218S exm88705 1 119441722 [T/G] NM_152380 TBX15 EXON Missense_T212K exm1704956 1 119466168 [A/G] NM_152380 TBX15 EXON Missense_F145S exm88710 1 119466172 [T/C] NM_152380 TBX15 EXON Missense_D144N exm88716 1 119467440 [T/C] NM_152380 TBX15 EXON Synonymous_R68R exm88721 1 119469188 [T/G] NM_152380 TBX15 EXON Missense_H50N exm88722 1 119469199 [T/C] NM_152380 TBX15 EXON Missense_G46D exm-rs984222 1 119503843 [C/G] NM_152380 TBX15 Silent exm2268746 1 119555146 [T/G] exm-rs12021830 1 119562382 [T/C] exm88727 1 119575538 [A/G] NM_201263,NM_015836 WARS2,WARS2 EXON Silent,Missense_L360P exm88732 1 119575668 [T/C] NM_201263,NM_015836 WARS2,WARS2 EXON Silent,Missense_I317V exm88734 1 119575679 [T/A] NM_201263,NM_015836 WARS2,WARS2 EXON Silent,Missense_K313M exm88741 1 119575743 [A/G] NM_201263,NM_015836 WARS2,WARS2 EXON Silent,Missense_R292C exm1704991 1 119575758 [T/C] NM_201263,NM_015836 WARS2,WARS2 EXON Silent,Missense_V287M exm88747 1 119575818 [C/G] NM_201263,NM_015836 WARS2,WARS2 EXON Silent,Missense_A267P exm88750 1 119575863 [A/G] NM_201263,NM_015836 WARS2,WARS2 EXON Silent,Missense_R252C exm88756 1 119576796 [T/C] NM_201263,NM_015836 WARS2,WARS2 EXON Missense_M186V,Missense_M186V exm88763 1 119584935 [T/C] NM_201263,NM_015836 WARS2,WARS2 EXON Missense_G156D,Missense_G156D exm88765 1 119584950 [T/C] NM_201263,NM_015836 WARS2,WARS2 EXON Missense_H151R,Missense_H151R exm88768 1 119588230 [T/C] NM_201263,NM_015836 WARS2,WARS2 EXON Missense_R135Q,Missense_R135Q exm88773 1 119619077 [G/C] NM_201263,NM_015836 WARS2,WARS2 EXON Missense_P82A,Missense_P82A exm88783 1 119683231 [A/C] NM_201263,NM_015836 WARS2,WARS2 EXON Missense_W13G,Missense_W13G exm88793 1 119923751 [A/G] NM_001005783,NM_016527 HAO2,HAO2 EXON Missense_E15K,Missense_E15K exm88796 1 119925549 [A/G] NM_001005783,NM_016527 HAO2,HAO2 EXON Missense_R48H,Missense_R48H exm88798 1 119925554 [T/C] NM_001005783,NM_016527 HAO2,HAO2 EXON Missense_R50W,Missense_R50W exm88804 1 119925632 [A/G] NM_001005783,NM_016527 HAO2,HAO2 EXON Missense_A76T,Missense_A76T exm88805 1 119925642 [G/C] NM_001005783,NM_016527 HAO2,HAO2 EXON Missense_G79A,Missense_G79A exm88807 1 119925645 [A/T] NM_001005783,NM_016527 HAO2,HAO2 EXON Missense_F80Y,Missense_F80Y exm2230921 1 119927444 [C/G] NM_001005783,NM_016527 HAO2,HAO2 EXON Missense_S110T,Missense_S110T exm1705085 1 119927479 [A/G] NM_001005783,NM_016527 HAO2,HAO2 EXON Missense_E122K,Missense_E122K exm88818 1 119927663 [A/G] NM_001005783,NM_016527 HAO2,HAO2 EXON Missense_Q183R,Missense_Q183R exm88819 1 119927674 [A/C] NM_001005783,NM_016527 HAO2,HAO2 EXON Missense_K187Q,Missense_K187Q exm88823 1 119929273 [T/C] NM_001005783,NM_016527 HAO2,HAO2 EXON Missense_T197I,Missense_T197I exm88832 1 119929417 [A/G] NM_001005783,NM_016527 HAO2,HAO2 EXON Missense_N245S,Missense_N245S exm88834 1 119929429 [A/G] NM_001005783,NM_016527 HAO2,HAO2 EXON Missense_R249K,Missense_R249K exm88845 1 119936414 [A/G] NM_001005783,NM_016527 HAO2,HAO2 EXON Missense_R336Q,Missense_R336Q exm88847 1 119936419 [T/G] NM_001005783,NM_016527 HAO2,HAO2 EXON Missense_V338F,Missense_V338F exm88848 1 119936432 [A/G] NM_001005783,NM_016527 HAO2,HAO2 EXON Missense_N342S,Missense_N342S exm88874 1 119964624 [T/C] NM_001166120,NM_000198 HSD3B2,HSD3B2 EXON Missense_A167V,Missense_A167V exm88882 1 119964762 [C/G] NM_001166120,NM_000198 HSD3B2,HSD3B2 EXON Missense_S213T,Missense_S213T exm88885 1 119964831 [T/C] NM_001166120,NM_000198 HSD3B2,HSD3B2 EXON Missense_L236S,Missense_L236S exm88931 1 120054267 [T/C] NM_000862 HSD3B1 EXON Missense_S96F exm88936 1 120056498 [A/C] NM_000862 HSD3B1 EXON Missense_P118T exm88946 1 120056709 [T/C] NM_000862 HSD3B1 EXON Missense_M188T exm88985 1 120165648 [A/G] NM_001080470 ZNF697 EXON Missense_R440C exm89011 1 120166535 [G/C] NM_001080470 ZNF697 EXON Missense_R144T exm89012 1 120166537 [C/G] NM_001080470 ZNF697 EXON Missense_W143C exm1705285 1 120166616 [A/C] NM_001080470 ZNF697 EXON Missense_R117L exm89018 1 120166617 [A/G] NM_001080470 ZNF697 EXON Missense_R117W exm89032 1 120168623 [A/G] NM_001080470 ZNF697 EXON Missense_P34L exm89033 1 120168654 [A/C] NM_001080470 ZNF697 EXON Missense_F24V exm89058 1 120254732 [T/G] NM_006623 PHGDH EXON Missense_Q29H exm1705339 1 120266004 [G/C] NM_006623 PHGDH EXON Missense_P99R exm89103 1 120277956 [T/G] NM_006623 PHGDH EXON Missense_G228W exm89108 1 120278017 [T/C] NM_006623 PHGDH EXON Missense_A248V exm89136 1 120284519 [A/G] NM_006623 PHGDH EXON Missense_N403S exm89139 1 120285475 [A/G] NM_006623 PHGDH EXON Missense_G419R exm89140 1 120285478 [A/G] NM_006623 PHGDH EXON Missense_E420K exm89157 1 120286620 [A/C] NM_006623 PHGDH EXON Missense_A520E exm89159 1 120286644 [T/C] NM_006623 PHGDH EXON Missense_A528V exm2264896 1 120292733 [A/G] NM_005518,NM_001166107 HMGCS2,HMGCS2 Silent,Silent exm89161 1 120293430 [T/C] NM_005518,NM_001166107 HMGCS2,HMGCS2 EXON Missense_V508I,Missense_V466I exm89167 1 120295173 [T/C] NM_005518,NM_001166107 HMGCS2,HMGCS2 EXON Synonymous_K473K,Synonymous_K431K exm89180 1 120298084 [T/A] NM_005518,NM_001166107 HMGCS2,HMGCS2 EXON Missense_S385T,Missense_S343T exm89181 1 120298113 [G/C] NM_005518,NM_001166107 HMGCS2,HMGCS2 EXON Missense_S375C,Missense_S333C exm89188 1 120300018 [T/C] NM_005518,NM_001166107 HMGCS2,HMGCS2 EXON Missense_M298I,Missense_M256I exm89190 1 120300046 [T/G] NM_005518,NM_001166107 HMGCS2,HMGCS2 EXON Missense_P289H,Missense_P247H exm89198 1 120301865 [C/G] NM_005518,NM_001166107 HMGCS2,HMGCS2 EXON Nonsense_Y242X,Nonsense_Y200X exm89204 1 120302538 [T/C] NM_005518,NM_001166107 HMGCS2,HMGCS2 EXON Missense_G212R,Silent exm89221 1 120307079 [T/C] NM_005518,NM_001166107 HMGCS2,HMGCS2 EXON Missense_R92H,Missense_R92H exm89225 1 120307113 [T/C] NM_005518,NM_001166107 HMGCS2,HMGCS2 EXON Missense_A81T,Missense_A81T exm89229 1 120307179 [T/G] NM_005518,NM_001166107 HMGCS2,HMGCS2 EXON Missense_L59M,Missense_L59M exm89232 1 120311395 [G/C] NM_005518,NM_001166107 HMGCS2,HMGCS2 EXON Missense_P25A,Missense_P25A exm89236 1 120311442 [T/C] NM_005518,NM_001166107 HMGCS2,HMGCS2 EXON Missense_K9R,Missense_K9R exm89237 1 120311460 [T/C] NM_005518,NM_001166107 HMGCS2,HMGCS2 EXON Missense_R3H,Missense_R3H exm89241 1 120337272 [T/C] NM_001159352,NM_032044 REG4,REG4 EXON Missense_R149H,Missense_R149H exm89244 1 120341126 [T/G] NM_001159352,NM_032044 REG4,REG4 EXON Missense_N135H,Missense_N135H exm89246 1 120341140 [A/G] NM_001159352,NM_032044 REG4,REG4 EXON Missense_A130V,Missense_A130V exm89247 1 120341176 [A/C] NM_001159352,NM_032044 REG4,REG4 EXON Missense_W118L,Missense_W118L exm89248 1 120341193 [T/C] NM_001159352,NM_032044 REG4,REG4 EXON Missense_M112I,Missense_M112I exm89249 1 120341212 [T/C] NM_001159352,NM_032044 REG4,REG4 EXON Missense_Q106R,Missense_Q106R exm2249752 1 120345451 [T/C] NM_001159352,NM_032044,NM_001159353 REG4,REG4,REG4 EXON Silent,Silent,Synonymous_X135X exm89269 1 120345596 [A/G] NM_001159352,NM_032044,NM_001159353 REG4,REG4,REG4 EXON Silent,Silent,Missense_P87L exm89301 1 120378772 [A/G] NM_001047980 NBPF7 EXON Missense_T325M exm89303 1 120378787 [A/G] NM_001047980 NBPF7 EXON Missense_P320L exm89309 1 120379932 [T/G] NM_001047980 NBPF7 EXON Missense_Q297K exm89318 1 120381846 [A/G] NM_001047980 NBPF7 EXON Missense_S267P exm89321 1 120381882 [T/C] NM_001047980 NBPF7 EXON Missense_K255E exm2249753 1 120381919 [T/C] NM_001047980 NBPF7 EXON Synonymous_P242P exm89337 1 120384066 [T/C] NM_001047980 NBPF7 EXON Missense_E166K exm89338 1 120384068 [T/C] NM_001047980 NBPF7 EXON Missense_R165Q exm89365 1 120387025 [T/C] NM_001047980 NBPF7 EXON Missense_R45H exm1705481 1 120436711 [T/C] NM_021794 ADAM30 EXON Missense_Q750R exm89386 1 120436751 [T/C] NM_021794 ADAM30 EXON Missense_T737A exm89392 1 120436909 [A/G] NM_021794 ADAM30 EXON Missense_S684L exm89394 1 120436918 [A/G] NM_021794 ADAM30 EXON Missense_A681V exm89408 1 120437207 [A/T] NM_021794 ADAM30 EXON Missense_M585L exm89412 1 120437471 [T/C] NM_021794 ADAM30 EXON Missense_R497G exm89424 1 120437688 [T/A] NM_021794 ADAM30 EXON Missense_D424E exm89428 1 120437809 [A/G] NM_021794 ADAM30 EXON Missense_S384L exm89436 1 120437884 [A/G] NM_021794 ADAM30 EXON Missense_L359P exm89438 1 120437951 [A/C] NM_021794 ADAM30 EXON Missense_A337S exm89451 1 120438266 [T/G] NM_021794 ADAM30 EXON Missense_L232I exm89453 1 120438295 [T/C] NM_021794 ADAM30 EXON Missense_N222S exm89454 1 120438317 [T/C] NM_021794 ADAM30 EXON Missense_R215G exm89462 1 120438488 [A/C] NM_021794 ADAM30 EXON Missense_V158F exm89465 1 120438577 [A/G] NM_021794 ADAM30 EXON Missense_T128I exm89467 1 120438593 [T/C] NM_021794 ADAM30 EXON Missense_K123E exm89477 1 120438796 [A/C] NM_021794 ADAM30 EXON Missense_V55G exm89478 1 120438811 [T/C] NM_021794 ADAM30 EXON Missense_S50N exm89481 1 120438827 [T/C] NM_021794 ADAM30 EXON Missense_I45V exm89482 1 120438902 [T/C] NM_021794 ADAM30 EXON Missense_T20A exm89497 1 120458122 [T/A] NM_024408 NOTCH2 EXON Missense_L2408H exm89503 1 120458270 [G/C] NM_024408 NOTCH2 EXON Missense_P2359A exm89517 1 120458579 [A/G] NM_024408 NOTCH2 EXON Missense_R2256C exm89528 1 120458866 [T/C] NM_024408 NOTCH2 EXON Missense_Y2160C exm89535 1 120458982 [G/C] NM_024408 NOTCH2 EXON Missense_K2121N exm89542 1 120459122 [T/C] NM_024408 NOTCH2 EXON Missense_V2075M exm89549 1 120459251 [T/G] NM_024408 NOTCH2 EXON Missense_H2032N exm2259746 1 120463230 [T/C] NM_024408 NOTCH2 Silent exm89582 1 120464998 [T/C] NM_024408 NOTCH2 EXON Missense_I1692V exm89583 1 120465007 [A/T] NM_024408 NOTCH2 EXON Missense_I1689F exm1705521 1 120465262 [A/C] NM_024408 NOTCH2 EXON Missense_V1667F exm89590 1 120465288 [A/G] NM_024408 NOTCH2 EXON Missense_T1658I exm89593 1 120465364 [T/C] NM_024408 NOTCH2 EXON Missense_V1633I exm89597 1 120466386 [T/C] NM_024408 NOTCH2 EXON Missense_R1578H exm89610 1 120468201 [T/A] NM_024408 NOTCH2 EXON Missense_L1413H exm89612 1 120468211 [A/G] NM_024408 NOTCH2 EXON Missense_R1410C exm89615 1 120468283 [T/C] NM_024408 NOTCH2 EXON Missense_G1386R exm2249755 1 120468326 [G/C] NM_024408 NOTCH2 EXON Synonymous_P1371P exm89628 1 120469147 [T/C] NM_024408 NOTCH2 EXON Missense_D1327G exm89630 1 120469211 [T/C] NM_024408 NOTCH2 EXON Missense_D1306N exm89634 1 120471613 [T/C] NM_024408 NOTCH2 EXON Missense_R1293H exm1705530 1 120471712 [T/C] NM_024408 NOTCH2 EXON Missense_R1260H exm89640 1 120471739 [T/C] NM_024408 NOTCH2 EXON Missense_R1251H exm89650 1 120478125 [A/C] NM_024408,NM_001200001 NOTCH2,NOTCH2 EXON Missense_F1209V,Missense_F1209V exm89652 1 120479948 [T/C] NM_024408,NM_001200001 NOTCH2,NOTCH2 EXON Missense_H1160R,Missense_H1160R exm2249756 1 120480583 [A/G] NM_024408,NM_001200001 NOTCH2,NOTCH2 EXON Synonymous_C1078C,Synonymous_C1078C exm89665 1 120480611 [T/C] NM_024408,NM_001200001 NOTCH2,NOTCH2 EXON Missense_R1069Q,Missense_R1069Q exm89675 1 120484300 [A/C] NM_024408,NM_001200001 NOTCH2,NOTCH2 EXON Missense_D944Y,Missense_D944Y exm89676 1 120484314 [A/G] NM_024408,NM_001200001 NOTCH2,NOTCH2 EXON Missense_P939L,Missense_P939L exm89679 1 120484345 [T/C] NM_024408,NM_001200001 NOTCH2,NOTCH2 EXON Missense_G929R,Missense_G929R exm89687 1 120491644 [A/G] NM_024408,NM_001200001 NOTCH2,NOTCH2 EXON Missense_A862V,Missense_A862V exm89704 1 120497840 [T/A] NM_024408,NM_001200001 NOTCH2,NOTCH2 EXON Missense_I681N,Missense_I681N exm89708 1 120506308 [T/C] NM_024408,NM_001200001 NOTCH2,NOTCH2 EXON Missense_A602T,Missense_A602T exm89721 1 120509025 [T/C] NM_024408,NM_001200001 NOTCH2,NOTCH2 EXON Missense_N514S,Missense_N514S exm89724 1 120510113 [T/G] NM_024408,NM_001200001 NOTCH2,NOTCH2 EXON Missense_Q466K,Missense_Q466K exm89725 1 120510194 [T/C] NM_024408,NM_001200001 NOTCH2,NOTCH2 EXON Missense_A439T,Missense_A439T exm89737 1 120512296 [A/C] NM_024408,NM_001200001 NOTCH2,NOTCH2 EXON Missense_A316S,Missense_A316S exm2230941 1 120548070 [A/C] NM_024408,NM_001200001 NOTCH2,NOTCH2 EXON Missense_E99D,Missense_E99D exm2268748 1 121184898 [T/C] exm-rs6600671 1 121200490 [T/G] exm2268931 1 121239763 [T/G] exm-rs11249433 1 121280613 [A/G] NR_003955 EMBP1 Silent exm2259780 1 142541502 [T/G] exm2264897 1 142649718 [A/G] exm89960 1 144816621 [A/G] NM_001037675 NBPF9 EXON Missense_N509S exm90044 1 144854574 [T/C] NM_001198832,NM_001198834,NM_014644 PDE4DIP,PDE4DIP,PDE4DIP EXON Missense_H2193R,Missense_H2299R,Missense_H2299R exm90045 1 144854580 [A/G] NM_001198832,NM_001198834,NM_014644 PDE4DIP,PDE4DIP,PDE4DIP EXON Missense_T2191I,Missense_T2297I,Missense_T2297I exm90051 1 144854608 [T/G] NM_001198832,NM_001198834,NM_014644 PDE4DIP,PDE4DIP,PDE4DIP EXON Missense_K2182Q,Missense_K2288Q,Missense_K2288Q exm90087 1 144857620 [G/C] NM_001198832,NM_001198834,NM_014644 PDE4DIP,PDE4DIP,PDE4DIP EXON Missense_R2039T,Missense_R2145T,Missense_R2145T exm90116 1 144859929 [T/C] NM_001198832,NM_001198834,NM_014644 PDE4DIP,PDE4DIP,PDE4DIP EXON Missense_R1946Q,Missense_R2052Q,Missense_R2052Q exm90118 1 144859969 [G/C] NM_001198832,NM_001198834,NM_014644 PDE4DIP,PDE4DIP,PDE4DIP EXON Missense_P1933A,Missense_P2039A,Missense_P2039A exm90120 1 144859987 [T/C] NM_001198832,NM_001198834,NM_014644 PDE4DIP,PDE4DIP,PDE4DIP EXON Missense_D1927N,Missense_D2033N,Missense_D2033N exm90158 1 144866600 [T/C] NM_001198832,NM_001198834,NM_014644 PDE4DIP,PDE4DIP,PDE4DIP EXON Missense_R1775H,Missense_R1881H,Missense_R1881H exm1710024 1 144866601 [A/G] NM_001198832,NM_001198834,NM_014644 PDE4DIP,PDE4DIP,PDE4DIP EXON Missense_R1775C,Missense_R1881C,Missense_R1881C exm90167 1 144866672 [T/C] NM_001198832,NM_001198834,NM_014644 PDE4DIP,PDE4DIP,PDE4DIP EXON Missense_R1751H,Missense_R1857H,Missense_R1857H exm90168 1 144866673 [A/G] NM_001198832,NM_001198834,NM_014644 PDE4DIP,PDE4DIP,PDE4DIP EXON Missense_R1751C,Missense_R1857C,Missense_R1857C exm90173 1 144866688 [A/G] NM_001198832,NM_001198834,NM_014644 PDE4DIP,PDE4DIP,PDE4DIP EXON Missense_R1746W,Missense_R1852W,Missense_R1852W exm90176 1 144867953 [A/G] NM_001198832,NM_001198834,NM_014644 PDE4DIP,PDE4DIP,PDE4DIP EXON Missense_S1723F,Missense_S1829F,Missense_S1829F exm90178 1 144868003 [T/A] NM_001198832,NM_001198834,NM_014644 PDE4DIP,PDE4DIP,PDE4DIP EXON Missense_D1706E,Missense_D1812E,Missense_D1812E exm90184 1 144868094 [T/C] NM_001198832,NM_001198834,NM_014644 PDE4DIP,PDE4DIP,PDE4DIP EXON Missense_N1676S,Missense_N1782S,Missense_N1782S exm90185 1 144868098 [A/G] NM_001198832,NM_001198834,NM_014644 PDE4DIP,PDE4DIP,PDE4DIP EXON Missense_L1675F,Missense_L1781F,Missense_L1781F exm90188 1 144868113 [T/C] NM_001198832,NM_001198834,NM_014644 PDE4DIP,PDE4DIP,PDE4DIP EXON Missense_D1670N,Missense_D1776N,Missense_D1776N exm90192 1 144868131 [T/G] NM_001198832,NM_001198834,NM_014644 PDE4DIP,PDE4DIP,PDE4DIP EXON Missense_S1664R,Missense_S1770R,Missense_S1770R exm90208 1 144871837 [A/C] NM_001198832,NM_001198834,NM_014644 PDE4DIP,PDE4DIP,PDE4DIP EXON Silent,Missense_A1709S,Missense_A1709S exm90219 1 144873934 [A/G] NM_001198832,NM_001198834,NM_014644 PDE4DIP,PDE4DIP,PDE4DIP EXON Missense_P1631S,Missense_P1675S,Missense_P1675S exm90221 1 144873960 [T/C] NM_001198832,NM_001198834,NM_014644 PDE4DIP,PDE4DIP,PDE4DIP EXON Missense_G1622E,Missense_G1666E,Missense_G1666E exm90222 1 144873964 [A/G] NM_001198832,NM_001198834,NM_014644 PDE4DIP,PDE4DIP,PDE4DIP EXON Nonsense_Q1621X,Nonsense_Q1665X,Nonsense_Q1665X exm90226 1 144874015 [A/G] NM_001198832,NM_001198834,NM_014644 PDE4DIP,PDE4DIP,PDE4DIP EXON Missense_S1604P,Missense_S1648P,Missense_S1648P exm1710047 1 144874752 [A/G] NM_001198832,NM_001198834,NM_014644 PDE4DIP,PDE4DIP,PDE4DIP EXON Missense_A1575V,Missense_A1619V,Missense_A1619V exm90236 1 144874815 [T/C] NM_001198832,NM_001198834,NM_014644 PDE4DIP,PDE4DIP,PDE4DIP EXON Missense_H1554R,Missense_H1598R,Missense_H1598R exm90244 1 144875986 [A/G] NM_001198832,NM_001198834,NM_014644 PDE4DIP,PDE4DIP,PDE4DIP EXON Missense_L1521P,Missense_L1565P,Missense_L1565P exm90300 1 144879485 [G/C] NM_001198832,NM_001198834,NM_014644 PDE4DIP,PDE4DIP,PDE4DIP EXON Missense_T1278R,Missense_T1322R,Missense_T1322R exm90302 1 144879497 [T/C] NM_001198832,NM_001198834,NM_014644 PDE4DIP,PDE4DIP,PDE4DIP EXON Missense_R1274H,Missense_R1318H,Missense_R1318H exm90310 1 144880814 [A/G] NM_001198832,NM_001198834,NM_014644 PDE4DIP,PDE4DIP,PDE4DIP EXON Missense_L1228F,Missense_L1272F,Missense_L1272F exm90314 1 144880834 [T/C] NM_001198832,NM_001198834,NM_014644 PDE4DIP,PDE4DIP,PDE4DIP EXON Missense_S1221N,Missense_S1265N,Missense_S1265N exm90323 1 144881463 [T/C] NM_001198832,NM_001198834,NM_014644 PDE4DIP,PDE4DIP,PDE4DIP EXON Missense_A1201T,Missense_A1245T,Missense_A1245T exm90324 1 144881475 [T/C] NM_001198832,NM_001198834,NM_014644 PDE4DIP,PDE4DIP,PDE4DIP EXON Missense_V1197I,Missense_V1241I,Missense_V1241I exm90327 1 144881547 [A/G] NM_001198832,NM_001198834,NM_014644 PDE4DIP,PDE4DIP,PDE4DIP EXON Missense_R1173C,Missense_R1217C,Missense_R1217C exm90329 1 144881583 [A/G] NM_001198832,NM_001198834,NM_014644 PDE4DIP,PDE4DIP,PDE4DIP EXON Missense_S1161P,Missense_S1205P,Missense_S1205P exm90331 1 144881595 [G/C] NM_001198832,NM_001198834,NM_014644 PDE4DIP,PDE4DIP,PDE4DIP EXON Missense_P1157A,Missense_P1201A,Missense_P1201A exm90339 1 144882472 [T/C] NM_001198832,NM_001198834,NM_014644 PDE4DIP,PDE4DIP,PDE4DIP EXON Silent,Missense_A1183T,Missense_A1183T exm90347 1 144882630 [T/C] NM_001198832,NM_001198834,NM_014644 PDE4DIP,PDE4DIP,PDE4DIP EXON Silent,Missense_G1130E,Missense_G1130E exm90363 1 144882849 [A/G] NM_001198832,NM_001198834,NM_014644 PDE4DIP,PDE4DIP,PDE4DIP EXON Missense_A1123V,Missense_A1057V,Missense_A1057V exm90370 1 144886136 [T/G] NM_001198832,NM_001198834,NM_014644 PDE4DIP,PDE4DIP,PDE4DIP EXON Missense_Q1099P,Missense_Q1033P,Missense_Q1033P exm90377 1 144886220 [T/C] NM_001198832,NM_001198834,NM_014644 PDE4DIP,PDE4DIP,PDE4DIP EXON Missense_E1071G,Missense_E1005G,Missense_E1005G exm90378 1 144886226 [T/C] NM_001198832,NM_001198834,NM_014644 PDE4DIP,PDE4DIP,PDE4DIP EXON Missense_Q1069R,Missense_Q1003R,Missense_Q1003R exm2268753 1 144894611 [T/C] NM_001198832,NM_001198834,NM_014644,NM_001002812,NM_001002811 PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP Silent,Silent,Silent,Silent,Silent exm90407 1 144903149 [T/C] NM_001198832,NM_001198834,NM_014644,NM_001002812,NM_001002811 PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Missense_S981G,Missense_S915G,Missense_S915G,Missense_S915G,Missense_S1078G exm90428 1 144911894 [T/C] NM_001198832,NM_001198834,NM_014644,NM_001002812,NM_001002811 PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Missense_R805G,Missense_R739G,Missense_R739G,Missense_R739G,Missense_R902G exm90437 1 144911949 [T/C] NM_001198832,NM_001198834,NM_014644,NM_001002812,NM_001002811 PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Missense_I786M,Missense_I720M,Missense_I720M,Missense_I720M,Missense_I883M exm90446 1 144912191 [T/G] NM_001198832,NM_001198834,NM_014644,NM_001002812,NM_001002811 PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Missense_P761H,Missense_P695H,Missense_P695H,Missense_P695H,Missense_P858H exm2231046 1 144915569 [T/C] NM_001198832,NM_001198834,NM_014644,NM_001002812,NM_001002811 PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Missense_R685H,Missense_R619H,Missense_R619H,Missense_R619H,Missense_R782H exm90469 1 144916643 [T/C] NM_001198832,NM_001198834,NM_014644,NM_001002812,NM_001002811 PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Missense_R637H,Missense_R571H,Missense_R571H,Missense_R571H,Missense_R734H exm1710122 1 144916644 [A/G] NM_001198832,NM_001198834,NM_014644,NM_001002812,NM_001002811 PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Missense_R637C,Missense_R571C,Missense_R571C,Missense_R571C,Missense_R734C exm90472 1 144916746 [T/C] NM_001198832,NM_001198834,NM_014644,NM_001002812,NM_001002811 PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Missense_M603V,Missense_M537V,Missense_M537V,Missense_M537V,Missense_M700V exm90482 1 144917567 [T/C] NM_001198832,NM_001198834,NM_014644,NM_001002812,NM_001002811 PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Missense_V579M,Missense_V513M,Missense_V513M,Missense_V513M,Missense_V676M exm90489 1 144917636 [A/G] NM_001198832,NM_001198834,NM_014644,NM_001002812,NM_001002811 PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Missense_R556W,Missense_R490W,Missense_R490W,Missense_R490W,Missense_R653W exm90499 1 144918930 [A/C] NM_001198832,NM_001198834,NM_014644,NM_001002812,NM_001002811 PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Missense_R485L,Missense_R419L,Missense_R419L,Missense_R419L,Missense_R582L exm90501 1 144918954 [A/G] NM_001198832,NM_001198834,NM_014644,NM_001002812,NM_001002811 PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Missense_L477S,Missense_L411S,Missense_L411S,Missense_L411S,Missense_L574S exm90503 1 144918972 [T/G] NM_001198832,NM_001198834,NM_014644,NM_001002812,NM_001002811 PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Missense_Q471P,Missense_Q405P,Missense_Q405P,Missense_Q405P,Missense_Q568P exm90504 1 144918984 [T/C] NM_001198832,NM_001198834,NM_014644,NM_001002812,NM_001002811 PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Missense_R467Q,Missense_R401Q,Missense_R401Q,Missense_R401Q,Missense_R564Q exm90507 1 144921857 [T/G] NM_001198832,NM_001198834,NM_014644,NM_001002812,NM_001002811 PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Missense_E457A,Missense_E391A,Missense_E391A,Missense_E391A,Missense_E554A exm90515 1 144921950 [G/C] NM_001198832,NM_001198834,NM_014644,NM_001002812,NM_001002811 PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Missense_R426T,Missense_R360T,Missense_R360T,Missense_R360T,Missense_R523T exm90526 1 144922252 [G/C] NM_001198832,NM_001198834,NM_014644,NM_001002812,NM_001002811 PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Missense_G372R,Missense_G306R,Missense_G306R,Missense_G306R,Missense_G469R exm90532 1 144922524 [A/G] NM_001198832,NM_001198834,NM_014644,NM_001002812,NM_001002811 PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Missense_R361C,Missense_R295C,Missense_R295C,Missense_R295C,Missense_R458C exm90540 1 144922638 [A/T] NM_001198832,NM_001198834,NM_014644,NM_001002812,NM_001002811 PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Missense_I323F,Missense_I257F,Missense_I257F,Missense_I257F,Missense_I420F exm90542 1 144923712 [T/C] NM_001198832,NM_001198834,NM_014644,NM_001002812,NM_001002811 PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Missense_Q315R,Missense_Q249R,Missense_Q249R,Missense_Q249R,Missense_Q412R exm90565 1 144930756 [T/C] NM_001198832,NM_001198834,NM_014644,NM_001002812,NM_001002811 PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Silent,Silent,Silent,Silent,Missense_S318N exm90569 1 144930790 [A/G] NM_001198832,NM_001198834,NM_014644,NM_001002812,NM_001002811 PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Silent,Silent,Silent,Silent,Nonsense_R307X exm90570 1 144930802 [T/G] NM_001198832,NM_001198834,NM_014644,NM_001002812,NM_001002811 PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Silent,Silent,Silent,Silent,Missense_I303L exm90571 1 144930805 [G/C] NM_001198832,NM_001198834,NM_014644,NM_001002812,NM_001002811 PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Silent,Silent,Silent,Silent,Missense_P302A exm90572 1 144930816 [A/G] NM_001198832,NM_001198834,NM_014644,NM_001002812,NM_001002811 PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Silent,Silent,Silent,Silent,Missense_L298P exm90581 1 144930936 [A/T] NM_001198832,NM_001198834,NM_014644,NM_001002812,NM_001002811 PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Silent,Silent,Silent,Silent,Missense_D258V exm90583 1 144930960 [T/C] NM_001198832,NM_001198834,NM_014644,NM_001002812,NM_001002811 PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Silent,Silent,Silent,Silent,Missense_Q250R exm90589 1 144930994 [T/C] NM_001198832,NM_001198834,NM_014644,NM_001002812,NM_001002811 PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Silent,Silent,Silent,Silent,Missense_G239S exm90606 1 144931218 [C/G] NM_001198832,NM_001198834,NM_014644,NM_001002812,NM_001002811 PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Silent,Silent,Silent,Silent,Missense_P164R exm90616 1 144931387 [T/G] NM_001198832,NM_001198834,NM_014644,NM_001002812,NM_001002811 PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Silent,Silent,Silent,Silent,Missense_I108L exm1710163 1 144931507 [T/C] NM_001198832,NM_001198834,NM_014644,NM_001002812,NM_001002811 PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Silent,Silent,Silent,Silent,Missense_I68V exm90629 1 144931532 [A/C] NM_001198832,NM_001198834,NM_014644,NM_001002812,NM_001002811 PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Silent,Silent,Silent,Silent,Missense_D59E exm90634 1 144931581 [C/G] NM_001198832,NM_001198834,NM_014644,NM_001002812,NM_001002811 PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Silent,Silent,Silent,Silent,Missense_R43P exm90639 1 144931626 [T/C] NM_001198832,NM_001198834,NM_014644,NM_001002812,NM_001002811 PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Silent,Silent,Silent,Silent,Missense_N28S exm90653 1 144946680 [T/C] NM_001198832,NM_001198834,NM_014644,NM_001002812 PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Missense_R260Q,Missense_R194Q,Missense_R194Q,Missense_R194Q exm90655 1 144946701 [T/C] NM_001198832,NM_001198834,NM_014644,NM_001002812 PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Missense_R253K,Missense_R187K,Missense_R187K,Missense_R187K exm90688 1 144994670 [A/C] NM_001198832,NM_001198834,NM_014644,NM_001002812,NM_001002810,NM_001195261,NM_001195260,NM_022359 PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Missense_S87I,Missense_S21I,Missense_S21I,Missense_S21I,Missense_S21I,Missense_S24I,Silent,Missense_S158I exm90689 1 144994694 [T/C] NM_001198832,NM_001198834,NM_014644,NM_001002812,NM_001002810,NM_001195261,NM_001195260,NM_022359 PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Missense_N79S,Missense_N13S,Missense_N13S,Missense_N13S,Missense_N13S,Missense_N16S,Silent,Missense_N150S exm90704 1 145015877 [T/G] NM_001198832,NM_022359 PDE4DIP,PDE4DIP EXON Missense_L71I,Missense_L142I exm90705 1 145015885 [T/G] NM_001198832,NM_022359 PDE4DIP,PDE4DIP EXON Missense_T68N,Missense_T139N exm90708 1 145015937 [A/G] NM_001198832,NM_022359 PDE4DIP,PDE4DIP EXON Missense_F51L,Missense_F122L exm90719 1 145021126 [A/G] NM_001198832,NM_022359 PDE4DIP,PDE4DIP EXON Missense_T21M,Missense_T92M exm90748 1 145075809 [T/G] NM_022359 PDE4DIP EXON Nonsense_C18X exm90764 1 145103949 [A/T] NM_004892 SEC22B EXON Missense_X39Y exm90765 1 145103956 [T/C] NM_004892 SEC22B EXON Nonsense_R42X exm90766 1 145103957 [A/G] NM_004892 SEC22B EXON Missense_R42Q exm90767 1 145103972 [A/C] NM_004892 SEC22B EXON Missense_Q47P exm90783 1 145112517 [T/C] NM_004892 SEC22B EXON Missense_S164L exm90787 1 145115783 [A/G] NM_004892 SEC22B EXON Missense_R181H exm90788 1 145115792 [T/C] NM_004892 SEC22B EXON Missense_A184V exm90790 1 145115815 [A/C] NM_004892 SEC22B EXON Missense_T192P exm90874 1 145281993 [A/G] NM_203458 NOTCH2NL EXON Missense_R225G exm-rs12091564 1 145395604 [T/C] exm91016 1 145415567 [T/C] NM_213652,NM_213653,NM_145277,NM_202004 HFE2,HFE2,HFE2,HFE2 EXON Silent,Missense_P129L,Missense_P16L,Silent exm91023 1 145415669 [G/C] NM_213652,NM_213653,NM_145277,NM_202004 HFE2,HFE2,HFE2,HFE2 EXON Silent,Missense_G163A,Missense_G50A,Silent exm91030 1 145416337 [A/C] NM_213652,NM_213653,NM_145277,NM_202004 HFE2,HFE2,HFE2,HFE2 EXON Missense_Q2K,Missense_Q228K,Missense_Q115K,Missense_Q2K exm91041 1 145416559 [A/G] NM_213652,NM_213653,NM_145277,NM_202004 HFE2,HFE2,HFE2,HFE2 EXON Missense_E76K,Missense_E302K,Missense_E189K,Missense_E76K exm91044 1 145416584 [G/C] NM_213652,NM_213653,NM_145277,NM_202004 HFE2,HFE2,HFE2,HFE2 EXON Missense_A84G,Missense_A310G,Missense_A197G,Missense_A84G exm91049 1 145416631 [T/C] NM_213652,NM_213653,NM_145277,NM_202004 HFE2,HFE2,HFE2,HFE2 EXON Nonsense_R100X,Nonsense_R326X,Nonsense_R213X,Nonsense_R100X exm2268754 1 145421477 [T/C] exm91068 1 145438959 [A/G] NM_006472 TXNIP EXON Missense_K53E exm91069 1 145439008 [A/G] NM_006472 TXNIP EXON Missense_Y69C exm91077 1 145439620 [T/C] NM_006472 TXNIP EXON Missense_P93L exm91085 1 145440086 [T/C] NM_006472 TXNIP EXON Missense_P174S exm91086 1 145440095 [T/C] NM_006472 TXNIP EXON Missense_R177W exm91087 1 145440096 [A/G] NM_006472 TXNIP EXON Missense_R177Q exm91092 1 145440346 [T/C] NM_006472 TXNIP EXON Missense_R218C exm91110 1 145440941 [A/G] NM_006472 TXNIP EXON Missense_R343Q exm91122 1 145457007 [T/C] NM_032305 POLR3GL EXON Missense_E185G exm91162 1 145474050 [A/C] NM_001039888 ANKRD34A EXON Missense_P241Q exm91170 1 145474301 [A/C] NM_001039888 ANKRD34A EXON Missense_P325T exm91172 1 145474332 [T/G] NM_001039888 ANKRD34A EXON Missense_R335L exm2265040 1 145517063 [A/G] NM_003846,NR_073491,NR_073492,NM_001184795,NR_073493 PEX11B,PEX11B,PEX11B,PEX11B,PEX11B EXON Silent,Silent,Silent,Silent,Silent exm91253 1 145518173 [A/G] NM_003846,NR_073491,NR_073492,NM_001184795,NR_073493 PEX11B,PEX11B,PEX11B,PEX11B,PEX11B EXON Missense_N92S,Silent,Silent,Missense_N78S,Silent exm91254 1 145518235 [T/C] NM_003846,NR_073491,NR_073492,NM_001184795,NR_073493 PEX11B,PEX11B,PEX11B,PEX11B,PEX11B EXON Missense_R113C,Silent,Silent,Missense_R99C,Silent exm91274 1 145522824 [T/C] NM_003846,NR_073491,NR_073492,NM_001184795,NR_073493 PEX11B,PEX11B,PEX11B,PEX11B,PEX11B EXON Missense_R229C,Silent,Silent,Missense_R215C,Silent exm91279 1 145525085 [T/C] NM_003637 ITGA10 EXON Missense_T7I exm2231073 1 145527691 [A/G] NM_003637 ITGA10 EXON Missense_S44N exm91288 1 145527693 [A/G] NM_003637 ITGA10 EXON Missense_V45I exm91304 1 145528634 [A/G] NM_003637 ITGA10 EXON Missense_R144H exm1710475 1 145530351 [G/C] NM_003637 ITGA10 EXON Missense_R189P exm91313 1 145530939 [T/C] NM_003637 ITGA10 EXON Missense_T224M exm91315 1 145530980 [T/C] NM_003637 ITGA10 EXON Missense_R238W exm91330 1 145532823 [A/G] NM_003637 ITGA10 EXON Missense_R381Q exm91341 1 145533451 [A/G] NM_003637 ITGA10 EXON Missense_R445H exm91343 1 145533551 [C/G] NM_003637 ITGA10 EXON Missense_Q478H exm91346 1 145533883 [T/G] NM_003637 ITGA10 EXON Missense_M510R exm91348 1 145533915 [T/C] NM_003637 ITGA10 EXON Missense_R521C exm91351 1 145534122 [T/C] NM_003637 ITGA10 EXON Missense_P543S exm91352 1 145534176 [G/C] NM_003637 ITGA10 EXON Missense_Q561E exm91374 1 145535814 [T/C] NM_003637 ITGA10 EXON Missense_R668W exm91377 1 145535884 [A/G] NM_003637 ITGA10 EXON Missense_R691H exm91379 1 145536012 [A/G] NM_003637 ITGA10 EXON Missense_A702T exm91381 1 145536031 [T/C] NM_003637 ITGA10 EXON Missense_T708I exm91383 1 145536082 [A/G] NM_003637 ITGA10 EXON Missense_R725Q exm91386 1 145536872 [A/G] NM_003637 ITGA10 EXON Missense_R751Q exm91388 1 145537252 [C/G] NM_003637 ITGA10 EXON Missense_R808T exm91392 1 145537455 [A/G] NM_003637 ITGA10 EXON Missense_R822Q exm91393 1 145537513 [A/C] NM_003637 ITGA10 EXON Missense_S841R exm91394 1 145537551 [T/G] NM_003637 ITGA10 EXON Missense_S854I exm91396 1 145537785 [T/C] NM_003637 ITGA10 EXON Missense_R875W exm91404 1 145538740 [T/C] NM_003637 ITGA10 EXON Missense_R951C exm91406 1 145538980 [A/G] NM_003637 ITGA10 EXON Missense_V974I exm91408 1 145539018 [G/C] NM_003637 ITGA10 EXON Missense_I986M exm91409 1 145539046 [T/C] NM_003637 ITGA10 EXON Missense_H996Y exm91411 1 145539381 [A/G] NM_003637 ITGA10 EXON Missense_Q1017R exm2249870 1 145539694 [T/C] NM_003637 ITGA10 EXON Synonymous_N1042N exm91415 1 145539694 [T/C] NM_003637 ITGA10 EXON Synonymous_N1042N exm91421 1 145541460 [T/C] NM_003637 ITGA10 EXON Missense_T1083M exm91423 1 145541479 [T/G] NM_003637 ITGA10 EXON Missense_E1089D exm91425 1 145541489 [A/G] NM_003637 ITGA10 EXON Missense_E1093K exm91426 1 145541526 [A/G] NM_003637 ITGA10 EXON Missense_R1105H exm91428 1 145541806 [T/C] NM_003637 ITGA10 EXON Missense_L1110P exm91431 1 145541827 [A/G] NM_003637 ITGA10 EXON Missense_R1117Q exm91434 1 145542255 [A/G] NM_003637 ITGA10 EXON Missense_R1161G exm91436 1 145542273 [T/C] NM_003637 ITGA10 EXON Nonsense_Q1167X exm91443 1 145549328 [C/G] NM_144698 ANKRD35 EXON Missense_I4M exm91445 1 145555699 [A/G] NM_144698 ANKRD35 EXON Missense_R16K exm91446 1 145555756 [A/G] NM_144698 ANKRD35 EXON Missense_R35H exm91450 1 145555811 [A/T] NM_144698 ANKRD35 EXON Missense_N53K exm91452 1 145555823 [A/G] NM_144698 ANKRD35 Silent exm91454 1 145556691 [T/A] NM_144698 ANKRD35 Silent exm91463 1 145558233 [A/G] NM_144698 ANKRD35 EXON Missense_D117G exm91465 1 145558244 [T/C] NM_144698 ANKRD35 EXON Missense_R121C exm91466 1 145558265 [T/G] NM_144698 ANKRD35 EXON Missense_A128S exm91478 1 145558835 [A/G] NM_144698 ANKRD35 EXON Missense_D152N exm91479 1 145558859 [A/G] NM_144698 ANKRD35 EXON Missense_A160T exm1710559 1 145560094 [T/C] NM_144698 ANKRD35 EXON Missense_C194R exm91493 1 145560101 [A/G] NM_144698 ANKRD35 EXON Missense_K196R exm91498 1 145560139 [A/G] NM_144698 ANKRD35 EXON Missense_G209R exm91502 1 145560245 [A/G] NM_144698 ANKRD35 EXON Missense_R244Q exm91505 1 145560253 [T/C] NM_144698 ANKRD35 EXON Missense_R247W exm91506 1 145560893 [C/G] NM_144698 ANKRD35 EXON Missense_Q250H exm91508 1 145560900 [A/G] NM_144698 ANKRD35 EXON Missense_V253I exm91510 1 145560918 [A/G] NM_144698 ANKRD35 EXON Missense_A259T exm1710564 1 145561110 [T/G] NM_144698 ANKRD35 EXON Missense_E266D exm91515 1 145561169 [A/G] NM_144698 ANKRD35 EXON Missense_E286G exm91517 1 145561192 [T/C] NM_144698 ANKRD35 EXON Missense_C294R exm91521 1 145561218 [T/G] NM_144698 ANKRD35 EXON Nonsense_Y302X exm91523 1 145561261 [A/G] NM_144698 ANKRD35 EXON Missense_V317M exm91527 1 145561330 [T/C] NM_144698 ANKRD35 EXON Nonsense_Q340X exm91528 1 145561334 [T/C] NM_144698 ANKRD35 EXON Missense_A341V exm91536 1 145561552 [T/A] NM_144698 ANKRD35 EXON Missense_Y414N exm91537 1 145561594 [T/C] NM_144698 ANKRD35 EXON Missense_P428S exm91544 1 145561724 [T/C] NM_144698 ANKRD35 EXON Missense_L471P exm91545 1 145561730 [T/G] NM_144698 ANKRD35 EXON Missense_V473G exm91546 1 145561765 [T/C] NM_144698 ANKRD35 EXON Missense_P485S exm91548 1 145561782 [T/G] NM_144698 ANKRD35 EXON Missense_Q490H exm91551 1 145561822 [T/C] NM_144698 ANKRD35 EXON Nonsense_R504X exm91560 1 145562087 [A/G] NM_144698 ANKRD35 EXON Missense_R592Q exm91564 1 145562108 [T/C] NM_144698 ANKRD35 EXON Missense_L599P exm91566 1 145562149 [A/C] NM_144698 ANKRD35 EXON Missense_L613M exm91570 1 145562272 [C/G] NM_144698 ANKRD35 EXON Missense_R654G exm91573 1 145562293 [C/G] NM_144698 ANKRD35 EXON Missense_E661Q exm91581 1 145562532 [C/G] NM_144698 ANKRD35 EXON Missense_H740Q exm91598 1 145562938 [A/G] NM_144698 ANKRD35 EXON Missense_E876K exm91600 1 145562990 [T/G] NM_144698 ANKRD35 EXON Missense_R893L exm91603 1 145563011 [A/G] NM_144698 ANKRD35 EXON Missense_G900E exm91607 1 145563071 [T/C] NM_144698 ANKRD35 EXON Missense_I920T exm91608 1 145563082 [T/C] NM_144698 ANKRD35 EXON Nonsense_R924X exm91614 1 145567084 [A/G] NM_144698 ANKRD35 EXON Missense_N978D exm91622 1 145576091 [T/G] NM_006099 PIAS3 EXON Missense_G5C exm91642 1 145578279 [A/C] NM_006099 PIAS3 EXON Missense_P81H exm91648 1 145578333 [T/C] NM_006099 PIAS3 EXON Missense_T99M exm91664 1 145579331 [T/C] NM_006099 PIAS3 EXON Missense_P223L exm91682 1 145583938 [C/G] NM_006099 PIAS3 EXON Missense_S390C exm91698 1 145584531 [A/G] NM_006099 PIAS3 EXON Missense_M500V exm91706 1 145585425 [A/G] NM_006099 PIAS3 EXON Missense_G564R exm91707 1 145585453 [T/C] NM_006099 PIAS3 EXON Missense_L573P exm91716 1 145585510 [A/G] NM_006099 PIAS3 EXON Missense_R592H exm91720 1 145585576 [T/G] NM_006099 PIAS3 EXON Missense_G614V exm91721 1 145585582 [T/C] NM_006099 PIAS3 EXON Missense_S616F exm91722 1 145585595 [T/G] NM_006099 PIAS3 EXON Missense_C620W exm2273333 1 145586309 [T/C] NM_006099 PIAS3 EXON Silent exm2273334 1 145586403 [T/G] NM_006099 PIAS3 EXON Silent exm91726 1 145586596 [T/C] NM_001012758 NUDT17 EXON Missense_G327E exm91727 1 145586602 [A/C] NM_001012758 NUDT17 EXON Missense_G325V exm91731 1 145586672 [T/C] NM_001012758 NUDT17 EXON Missense_S302G exm91736 1 145586680 [A/G] NM_001012758 NUDT17 EXON Missense_P299L exm1710628 1 145586903 [A/G] NM_001012758 NUDT17 EXON Missense_S262F exm91754 1 145586940 [T/C] NM_001012758 NUDT17 EXON Missense_E250K exm91756 1 145587383 [T/C] NM_001012758 NUDT17 EXON Missense_G233R exm91764 1 145587481 [T/C] NM_001012758 NUDT17 EXON Missense_R200Q exm91773 1 145588378 [T/C] NM_001012758 NUDT17 EXON Synonymous_E165E exm91783 1 145588901 [T/C] NM_001012758 NUDT17 EXON Missense_S116N exm91796 1 145589318 [C/G] NM_001012758 NUDT17 EXON Missense_P37R exm91828 1 145596903 [A/C] NM_006468 POLR3C Silent exm91832 1 145597014 [C/G] NM_006468 POLR3C EXON Missense_Q371E exm91833 1 145597025 [T/C] NM_006468 POLR3C EXON Missense_R367H exm91841 1 145598285 [A/G] NM_006468 POLR3C EXON Missense_V323A exm91860 1 145606361 [T/C] NM_006468 POLR3C EXON Missense_K198E exm91861 1 145608122 [T/G] NM_006468 POLR3C EXON Missense_K192T exm91862 1 145608146 [T/C] NM_006468 POLR3C EXON Missense_E184G exm91874 1 145608556 [T/C] NM_006468 POLR3C EXON Missense_R84Q exm91876 1 145608595 [T/C] NM_006468 POLR3C EXON Missense_G71D exm91882 1 145609240 [A/T] NM_006468 POLR3C EXON Missense_S33C exm91925 1 145688153 [A/G] NM_014455 RNF115 EXON Missense_S283N exm91941 1 145698959 [A/G] NM_007053 CD160 EXON Missense_L178F exm1710711 1 145704116 [T/G] NM_007053 CD160 EXON Missense_Q101K exm91952 1 145704146 [T/C] NM_007053 CD160 EXON Missense_I91V exm91954 1 145704167 [T/C] NM_007053 CD160 EXON Missense_G84R exm91961 1 145704302 [A/G] NM_007053 CD160 EXON Nonsense_R39X exm91963 1 145704304 [A/G] NM_007053 CD160 EXON Missense_T38M exm-rs12129861 1 145725689 [A/G] exm2264899 1 145730160 [A/G] NM_002614,NM_001201326,NM_001201325 PDZK1,PDZK1,PDZK1 Silent,Silent,Silent exm91970 1 145747065 [T/C] NM_002614,NM_001201326,NM_001201325 PDZK1,PDZK1,PDZK1 EXON Nonsense_R8X,Nonsense_R8X,Nonsense_R8X exm2231083 1 145765424 [A/G] NM_001097613,NM_001097612,NR_036541 GPR89A,GPR89A,GPR89A EXON Missense_A344V,Missense_A369V,Silent exm2231084 1 145765425 [T/C] NM_001097613,NM_001097612,NR_036541 GPR89A,GPR89A,GPR89A EXON Missense_A344T,Missense_A369T,Silent exm-rs12122100 1 146508934 [T/C] NR_024442 LOC728989 Silent exm-rs11239930 1 146560564 [A/G] exm2265041 1 146568955 [A/G] exm92112 1 146638152 [T/C] NM_005399 PRKAB2 EXON Missense_V155I exm92120 1 146639505 [T/C] NM_005399 PRKAB2 EXON Missense_G55E exm92138 1 146658563 [A/C] NM_001144829,NM_001144830,NM_001461 FMO5,FMO5,FMO5 EXON Silent,Silent,Missense_R506S exm92141 1 146658604 [T/C] NM_001144829,NM_001144830,NM_001461 FMO5,FMO5,FMO5 EXON Silent,Silent,Missense_D493N exm92153 1 146672745 [T/C] NM_001144829,NM_001144830,NM_001461 FMO5,FMO5,FMO5 EXON Missense_Q391R,Silent,Missense_Q391R exm92157 1 146672815 [T/G] NM_001144829,NM_001144830,NM_001461 FMO5,FMO5,FMO5 EXON Missense_I368L,Silent,Missense_I368L exm92166 1 146672962 [T/C] NM_001144829,NM_001144830,NM_001461 FMO5,FMO5,FMO5 EXON Missense_R319G,Silent,Missense_R319G exm92186 1 146680559 [T/C] NM_001144829,NM_001144830,NM_001461 FMO5,FMO5,FMO5 EXON Missense_G229R,Missense_G229R,Missense_G229R exm92189 1 146680614 [A/C] NM_001144829,NM_001144830,NM_001461 FMO5,FMO5,FMO5 Silent,Silent,Silent exm92191 1 146684060 [A/C] NM_001144829,NM_001144830,NM_001461 FMO5,FMO5,FMO5 EXON Nonsense_Y177X,Nonsense_Y177X,Nonsense_Y177X exm92194 1 146684095 [T/C] NM_001144829,NM_001144830,NM_001461 FMO5,FMO5,FMO5 EXON Missense_K166E,Missense_K166E,Missense_K166E exm92208 1 146687509 [T/C] NM_001144829,NM_001144830,NM_001461 FMO5,FMO5,FMO5 EXON Missense_N47D,Missense_N47D,Missense_N47D exm-rs10900325 1 146692174 [T/C] NM_001144829,NM_001144830,NM_001461 FMO5,FMO5,FMO5 Silent,Silent,Silent exm2268755 1 146694922 [T/C] NM_001144829,NM_001144830,NM_001461 FMO5,FMO5,FMO5 Silent,Silent,Silent exm92239 1 146727553 [T/C] NM_001256337,NM_001256338,NM_024568,NR_046070,NM_004284,NM_001256336 CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L EXON Silent,Silent,Missense_R32C,Silent,Missense_R145C,Missense_R45C exm92256 1 146736111 [A/G] NM_001256337,NM_001256338,NM_024568,NR_046070,NM_004284,NM_001256336 CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L EXON Silent,Silent,Missense_G90R,Silent,Missense_G203R,Missense_G103R exm92263 1 146736211 [A/G] NM_001256337,NM_001256338,NM_024568,NR_046070,NM_004284,NM_001256336 CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L EXON Silent,Silent,Missense_R123H,Silent,Missense_R236H,Missense_R136H exm92270 1 146737632 [T/C] NM_001256337,NM_001256338,NM_024568,NR_046070,NM_004284,NM_001256336 CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L EXON Silent,Nonsense_R57X,Nonsense_R148X,Silent,Nonsense_R261X,Nonsense_R161X exm2249882 1 146737700 [A/C] NM_001256337,NM_001256338,NM_024568,NR_046070,NM_004284,NM_001256336 CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L EXON Synonymous_S2S,Synonymous_S79S,Synonymous_S170S,Silent,Synonymous_S283S,Synonymous_S183S exm92288 1 146740502 [C/G] NM_001256337,NM_001256338,NM_024568,NR_046070,NM_004284,NM_001256336 CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L EXON Missense_H69Q,Missense_H146Q,Missense_H237Q,Silent,Missense_H350Q,Missense_H250Q exm92304 1 146747766 [A/G] NM_001256337,NM_001256338,NM_024568,NR_046070,NM_004284,NM_001256336 CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L Silent,Silent,Silent,Silent,Silent,Silent exm92306 1 146747797 [A/G] NM_001256337,NM_001256338,NM_024568,NR_046070,NM_004284,NM_001256336 CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L EXON Missense_R191Q,Missense_R268Q,Missense_R359Q,Silent,Missense_R472Q,Missense_R372Q exm92316 1 146751782 [A/C] NM_001256337,NM_001256338,NM_024568,NR_046070,NM_004284,NM_001256336 CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L EXON Synonymous_I260I,Synonymous_I337I,Synonymous_I428I,Silent,Synonymous_I541I,Synonymous_I441I exm2249883 1 146751782 [A/C] NM_001256337,NM_001256338,NM_024568,NR_046070,NM_004284,NM_001256336 CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L EXON Synonymous_I260I,Synonymous_I337I,Synonymous_I428I,Silent,Synonymous_I541I,Synonymous_I441I exm92336 1 146757134 [A/G] NM_001256337,NM_001256338,NM_024568,NR_046070,NM_004284,NM_001256336 CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L EXON Missense_R382K,Missense_R459K,Missense_R550K,Silent,Missense_R663K,Missense_R563K exm92343 1 146758029 [C/G] NM_001256337,NM_001256338,NM_024568,NR_046070,NM_004284,NM_001256336 CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L EXON Missense_E410D,Missense_E487D,Missense_E578D,Silent,Missense_E691D,Missense_E591D exm92345 1 146758054 [A/G] NM_001256337,NM_001256338,NM_024568,NR_046070,NM_004284,NM_001256336 CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L EXON Missense_G419R,Missense_G496R,Missense_G587R,Silent,Missense_G700R,Missense_G600R exm92347 1 146758135 [A/C] NM_001256337,NM_001256338,NM_024568,NR_046070,NM_004284,NM_001256336 CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L EXON Missense_P446T,Missense_P523T,Missense_P614T,Silent,Missense_P727T,Missense_P627T exm92348 1 146758168 [T/C] NM_001256337,NM_001256338,NM_024568,NR_046070,NM_004284,NM_001256336 CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L EXON Missense_H457Y,Missense_H534Y,Missense_H625Y,Silent,Missense_H738Y,Missense_H638Y exm92357 1 146759387 [A/G] NM_001256337,NM_001256338,NM_024568,NR_046070,NM_004284,NM_001256336 CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L EXON Missense_I484M,Missense_I561M,Missense_I652M,Silent,Missense_I765M,Missense_I665M exm92361 1 146763171 [T/A] NM_001256337,NM_001256338,NM_024568,NR_046070,NM_004284,NM_001256336 CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L EXON Missense_S495R,Missense_S572R,Missense_S663R,Silent,Missense_S776R,Missense_S676R exm92368 1 146765310 [T/C] NM_001256337,NM_001256338,NM_024568,NR_046070,NM_004284,NM_001256336 CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L EXON Nonsense_Q523X,Nonsense_Q600X,Nonsense_Q691X,Silent,Nonsense_Q804X,Nonsense_Q704X exm92369 1 146765317 [A/G] NM_001256337,NM_001256338,NM_024568,NR_046070,NM_004284,NM_001256336 CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L EXON Missense_R525H,Missense_R602H,Missense_R693H,Silent,Missense_R806H,Missense_R706H exm92371 1 146765358 [G/C] NM_001256337,NM_001256338,NM_024568,NR_046070,NM_004284,NM_001256336 CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L EXON Missense_L539V,Missense_L616V,Missense_L707V,Silent,Missense_L820V,Missense_L720V exm92372 1 146765361 [A/G] NM_001256337,NM_001256338,NM_024568,NR_046070,NM_004284,NM_001256336 CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L EXON Missense_E540K,Missense_E617K,Missense_E708K,Silent,Missense_E821K,Missense_E721K exm92373 1 146765379 [A/G] NM_001256337,NM_001256338,NM_024568,NR_046070,NM_004284,NM_001256336 CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L EXON Missense_I546V,Missense_I623V,Missense_I714V,Silent,Missense_I827V,Missense_I727V exm92381 1 146766126 [A/G] NM_001256337,NM_001256338,NM_024568,NR_046070,NM_004284,NM_001256336 CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L EXON Missense_K567E,Missense_K644E,Missense_K735E,Silent,Missense_K848E,Missense_K748E exm92385 1 146767149 [T/G] NM_001256337,NM_001256338,NM_024568,NR_046070,NM_004284,NM_001256336 CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L EXON Missense_A604S,Missense_A681S,Missense_A772S,Silent,Missense_A885S,Missense_A785S exm-rs4950322 1 146854836 [A/G] NR_038423 LINC00624 EXON Silent exm2268935 1 147060091 [T/C] NM_004326 BCL9 Silent exm92390 1 147084683 [A/G] NM_004326 BCL9 EXON Missense_S19G exm92404 1 147084965 [T/C] NM_004326 BCL9 EXON Missense_P113S exm92411 1 147086354 [A/G] NM_004326 BCL9 EXON Missense_T167A exm92420 1 147090653 [T/C] NM_004326 BCL9 EXON Missense_P231L exm92423 1 147090683 [T/C] NM_004326 BCL9 EXON Missense_P241L exm92426 1 147090775 [T/C] NM_004326 BCL9 EXON Missense_R272C exm92428 1 147090866 [A/G] NM_004326 BCL9 EXON Missense_G302D exm92429 1 147090956 [T/C] NM_004326 BCL9 EXON Missense_P332L exm92431 1 147090979 [A/G] NM_004326 BCL9 EXON Missense_E340K exm92438 1 147091108 [A/G] NM_004326 BCL9 EXON Missense_A383T exm92447 1 147091393 [G/C] NM_004326 BCL9 EXON Missense_E478Q exm92455 1 147091507 [G/C] NM_004326 BCL9 EXON Missense_P516A exm92459 1 147091546 [C/G] NM_004326 BCL9 EXON Missense_G529R exm92460 1 147091558 [G/C] NM_004326 BCL9 EXON Missense_P533A exm92464 1 147091671 [A/C] NM_004326 BCL9 EXON Missense_N570K exm92470 1 147091819 [T/C] NM_004326 BCL9 EXON Missense_R620C exm92479 1 147091972 [T/C] NM_004326 BCL9 EXON Missense_P671S exm92492 1 147092352 [T/G] NM_004326 BCL9 EXON Missense_L797F exm92497 1 147092372 [T/C] NM_004326 BCL9 EXON Missense_I804T exm92526 1 147094296 [T/C] NM_004326 BCL9 EXON Missense_R1043C exm92532 1 147095697 [T/C] NM_004326 BCL9 EXON Missense_P1073L exm92533 1 147095724 [T/C] NM_004326 BCL9 EXON Missense_M1082T exm92535 1 147095727 [A/C] NM_004326 BCL9 EXON Missense_T1083N exm92536 1 147095762 [T/C] NM_004326 BCL9 EXON Missense_P1095S exm92552 1 147096112 [A/G] NM_004326 BCL9 EXON Missense_M1211I exm92554 1 147096153 [A/G] NM_004326 BCL9 EXON Missense_R1225Q exm92564 1 147096378 [T/C] NM_004326 BCL9 EXON Missense_P1300L exm92572 1 147096575 [C/G] NM_004326 BCL9 EXON Missense_A1366P exm92586 1 147096749 [A/G] NM_004326 BCL9 EXON Missense_M1424V exm92590 1 147119257 [T/A] NM_016361 ACP6 EXON Missense_T419S exm2249886 1 147119273 [A/G] NM_016361 ACP6 EXON Synonymous_H413H exm92600 1 147120061 [T/C] NM_016361 ACP6 EXON Missense_Y377C exm2231104 1 147120125 [T/C] NM_016361 ACP6 EXON Missense_A356T exm2249887 1 147120171 [A/C] NM_016361 ACP6 EXON Synonymous_P340P exm92609 1 147120196 [A/G] NM_016361 ACP6 EXON Missense_A332V exm92611 1 147121977 [T/C] NM_016361 ACP6 EXON Missense_V316M exm92623 1 147126416 [G/C] NM_016361 ACP6 EXON Missense_Q225E exm92626 1 147126437 [A/G] NM_016361 ACP6 EXON Missense_R218W exm92629 1 147127320 [C/G] NM_016361 ACP6 EXON Missense_L201F exm92634 1 147131113 [T/C] NM_016361 ACP6 EXON Missense_R174H exm92638 1 147131530 [A/T] NM_016361 ACP6 EXON Missense_F154I exm92639 1 147131532 [T/G] NM_016361 ACP6 EXON Missense_T153N exm92641 1 147131553 [T/C] NM_016361 ACP6 EXON Missense_D146G exm92645 1 147131611 [T/C] NM_016361 ACP6 EXON Missense_V127M exm92652 1 147131811 [A/G] NM_016361 ACP6 EXON Missense_P100L exm92655 1 147142037 [T/C] NM_016361 ACP6 EXON Missense_R45H exm92658 1 147142059 [T/C] NM_016361 ACP6 EXON Missense_D38N exm92667 1 147230352 [T/C] NM_181703,NM_005266 GJA5,GJA5 EXON Missense_R332H,Missense_R332H exm92671 1 147230554 [A/G] NM_181703,NM_005266 GJA5,GJA5 EXON Missense_P265S,Missense_P265S exm92698 1 147231334 [T/C] NM_181703,NM_005266 GJA5,GJA5 EXON Missense_S5G,Missense_S5G exm2263835 1 147326222 [A/C] exm92700 1 147380101 [A/C] NM_005267 GJA8 EXON Missense_L7M exm92701 1 147380121 [C/G] NM_005267 GJA8 EXON Missense_E13D exm92718 1 147380467 [A/G] NM_005267 GJA8 EXON Missense_V129I exm92727 1 147380740 [A/G] NM_005267 GJA8 EXON Missense_N220D exm92732 1 147380823 [T/G] NM_005267 GJA8 EXON Missense_I247M exm92737 1 147380975 [A/G] NM_005267 GJA8 EXON Missense_N298S exm92741 1 147381076 [A/G] NM_005267 GJA8 EXON Missense_E332K exm92750 1 147381239 [T/C] NM_005267 GJA8 EXON Missense_P386L exm92774 1 147415611 [T/C] NM_016334 GPR89B EXON Missense_M89T exm92780 1 147416122 [T/C] NM_016334 GPR89B EXON Nonsense_R109X exm2268756 1 148551025 [T/C] exm93599 1 149858180 [T/G] NM_003528 HIST2H2BE EXON Missense_P4Q exm93657 1 149871811 [T/C] NM_016074 BOLA1 EXON Missense_H67Y exm93661 1 149871855 [A/C] NM_016074 BOLA1 EXON Missense_S81R exm93667 1 149871920 [T/C] NM_016074 BOLA1 EXON Missense_A103V exm2249912 1 149876644 [A/G] NM_014849 SV2A EXON Synonymous_L717L exm2249913 1 149876686 [A/G] NM_014849 SV2A EXON Synonymous_I703I exm93679 1 149876686 [A/G] NM_014849 SV2A EXON Synonymous_I703I exm93706 1 149879666 [T/C] NM_014849 SV2A EXON Missense_R491H exm93707 1 149879673 [T/C] NM_014849 SV2A EXON Missense_G489R exm93753 1 149885070 [T/C] NM_014849 SV2A EXON Missense_G108D exm93754 1 149885086 [A/G] NM_014849 SV2A EXON Missense_R103W exm93763 1 149885355 [T/C] NM_014849 SV2A EXON Missense_R13H exm93766 1 149885376 [T/C] NM_014849 SV2A EXON Missense_R6Q exm2249914 1 149897906 [A/G] NM_005850 SF3B4 EXON Synonymous_P245P exm93816 1 149901088 [T/C] NM_181873,NM_001145862 MTMR11,MTMR11 EXON Missense_H616R,Missense_H688R exm93821 1 149901209 [T/C] NM_181873,NM_001145862 MTMR11,MTMR11 EXON Missense_M576V,Missense_M648V exm2276850 1 149901676 [A/G] NM_181873,NM_001145862 MTMR11,MTMR11 EXON Nonsense_R522X,Nonsense_R594X exm93835 1 149901766 [A/G] NM_181873,NM_001145862 MTMR11,MTMR11 EXON Missense_F492L,Missense_F564L exm93838 1 149901809 [A/C] NM_181873,NM_001145862 MTMR11,MTMR11 Silent,Silent exm1713051 1 149902286 [A/G] NM_181873,NM_001145862 MTMR11,MTMR11 EXON Missense_C468R,Missense_C540R exm93839 1 149902312 [T/G] NM_181873,NM_001145862 MTMR11,MTMR11 EXON Missense_Q459P,Missense_Q531P exm93840 1 149902342 [T/C] NM_181873,NM_001145862 MTMR11,MTMR11 EXON Missense_R449H,Missense_R521H exm93843 1 149902426 [A/G] NM_181873,NM_001145862 MTMR11,MTMR11 EXON Missense_T421I,Missense_T493I exm93858 1 149902853 [A/G] NM_181873,NM_001145862 MTMR11,MTMR11 EXON Missense_P360L,Missense_P432L exm93875 1 149905773 [T/C] NM_181873,NM_001145862 MTMR11,MTMR11 EXON Missense_G177D,Missense_G249D exm93877 1 149905827 [A/C] NM_181873,NM_001145862 MTMR11,MTMR11 EXON Missense_R159L,Missense_R231L exm93879 1 149906097 [T/C] NM_181873,NM_001145862 MTMR11,MTMR11 EXON Missense_D152N,Missense_D224N exm93887 1 149906413 [T/C] NM_181873,NM_001145862 MTMR11,MTMR11 EXON Missense_M87V,Missense_M159V exm93889 1 149906902 [T/C] NM_181873,NM_001145862 MTMR11,MTMR11 EXON Missense_G77S,Missense_G149S exm93894 1 149906991 [T/C] NM_181873,NM_001145862 MTMR11,MTMR11 EXON Missense_R47H,Missense_R119H exm93897 1 149906999 [G/C] NM_181873,NM_001145862 MTMR11,MTMR11 EXON Missense_Q44H,Missense_Q116H exm93903 1 149907209 [A/G] NM_181873,NM_001145862 MTMR11,MTMR11 EXON Missense_I31T,Missense_I103T exm93925 1 149915911 [A/G] NM_020205 OTUD7B EXON Missense_R793W exm93941 1 149916204 [T/C] NM_020205 OTUD7B EXON Missense_D695G exm93943 1 149916226 [A/G] NM_020205 OTUD7B EXON Missense_F688L exm93946 1 149916276 [T/G] NM_020205 OTUD7B EXON Missense_A671D exm93963 1 149916934 [T/C] NM_020205 OTUD7B EXON Missense_A452T exm93968 1 149919225 [A/G] NM_020205 OTUD7B EXON Missense_S417F exm93972 1 149920922 [A/C] NM_020205 OTUD7B EXON Missense_G396V exm93977 1 149922042 [T/C] NM_020205 OTUD7B EXON Missense_I310V exm93991 1 149937800 [T/C] NM_020205 OTUD7B EXON Missense_R169H exm94004 1 149943111 [T/G] NM_020205 OTUD7B EXON Missense_L52I exm2268758 1 149998494 [T/C] exm94022 1 150044250 [T/G] NM_007259 VPS45 EXON Missense_I82M exm94035 1 150049220 [A/G] NM_007259 VPS45 EXON Missense_T163A exm94042 1 150049784 [A/G] NM_007259 VPS45 EXON Missense_R205H exm94044 1 150049795 [T/G] NM_007259 VPS45 EXON Missense_V209F exm94047 1 150053494 [T/C] NM_007259 VPS45 EXON Missense_P253L exm2249916 1 150054802 [A/G] NM_007259 VPS45 EXON Synonymous_A313A exm94060 1 150064399 [G/C] NM_007259 VPS45 EXON Missense_V423L exm94073 1 150082673 [A/G] NM_007259 VPS45 EXON Missense_Y519C exm94077 1 150116925 [A/G] NM_007259 VPS45 EXON Missense_R555Q exm94086 1 150123132 [C/G] NM_016274 PLEKHO1 EXON Missense_P21A exm94106 1 150129585 [A/G] NM_016274 PLEKHO1 EXON Missense_V144I exm94114 1 150131166 [G/C] NM_016274 PLEKHO1 EXON Missense_D226E exm94124 1 150131324 [A/G] NM_016274 PLEKHO1 EXON Missense_R279Q exm94126 1 150131341 [T/C] NM_016274 PLEKHO1 EXON Missense_R285C exm94127 1 150131342 [A/G] NM_016274 PLEKHO1 EXON Missense_R285H exm94136 1 150131408 [A/G] NM_016274 PLEKHO1 EXON Missense_R307Q exm94141 1 150131489 [A/G] NM_016274 PLEKHO1 EXON Missense_R334Q exm1713213 1 150131579 [T/C] NM_016274 PLEKHO1 EXON Missense_S364L exm94153 1 150131671 [T/C] NM_016274 PLEKHO1 EXON Missense_L395F exm94155 1 150131687 [T/C] NM_016274 PLEKHO1 EXON Missense_P400L exm2259802 1 150163390 [T/C] exm94165 1 150195561 [T/A] NM_030920,NM_001136478,NM_001136479 ANP32E,ANP32E,ANP32E EXON Missense_E229D,Missense_E188D,Missense_E181D exm94174 1 150199062 [T/C] NM_030920,NM_001136478,NM_001136479 ANP32E,ANP32E,ANP32E EXON Missense_E187K,Missense_E146K,Missense_E139K exm94182 1 150201406 [T/C] NM_030920,NM_001136478,NM_001136479 ANP32E,ANP32E,ANP32E EXON Synonymous_E164E,Synonymous_E123E,Synonymous_E116E exm94191 1 150230559 [T/G] NM_012113 CA14 EXON Missense_W12C exm94193 1 150230578 [T/G] NM_012113 CA14 EXON Missense_G19C exm94197 1 150232552 [A/C] NM_012113 CA14 EXON Missense_H21P exm94203 1 150234028 [A/G] NM_012113 CA14 EXON Missense_G83S exm94208 1 150234692 [T/C] NM_012113 CA14 EXON Missense_F131S exm94216 1 150235510 [A/G] NM_012113 CA14 EXON Missense_R211H exm94228 1 150235791 [T/C] NM_012113 CA14 EXON Missense_R272C exm94235 1 150236252 [A/G] NM_012113 CA14 EXON Missense_V308I exm1713266 1 150236264 [A/G] NM_012113 CA14 EXON Missense_A312T exm94251 1 150238593 [G/C] NM_016022,NM_001077628,NM_001243771,NR_045035,NR_045034,NM_001243772,NR_045033 APH1A,APH1A,APH1A,APH1A,APH1A,APH1A,APH1A EXON Silent,Missense_C245W,Silent,Silent,Silent,Missense_C175W,Silent exm94258 1 150238960 [T/G] NM_016022,NM_001077628,NM_001243771,NR_045035,NR_045034,NM_001243772,NR_045033 APH1A,APH1A,APH1A,APH1A,APH1A,APH1A,APH1A EXON Missense_L236I,Missense_L236I,Missense_L179I,Silent,Silent,Missense_L166I,Silent exm94275 1 150246573 [A/G] NM_024579 C1orf54 EXON Missense_D44N exm94280 1 150248200 [A/G] NM_024579 C1orf54 EXON Missense_D61N exm94293 1 150255712 [A/C] NM_144697 C1orf51 EXON Missense_S12Y exm94294 1 150255718 [T/C] NM_144697 C1orf51 EXON Missense_S14F exm94302 1 150255925 [A/G] NM_144697 C1orf51 EXON Missense_R83Q exm94305 1 150255967 [T/C] NM_144697 C1orf51 EXON Missense_S97L exm94312 1 150257054 [T/C] NM_144697 C1orf51 EXON Missense_T190I exm1713297 1 150259016 [A/C] NM_144697 C1orf51 EXON Missense_P270T exm94323 1 150259082 [A/G] NM_144697 C1orf51 EXON Missense_V292I exm94324 1 150259113 [A/C] NM_144697 C1orf51 EXON Missense_P302H exm94326 1 150259350 [A/C] NM_144697 C1orf51 EXON Missense_H381P exm94338 1 150280621 [T/G] NM_031901,NM_018997 MRPS21,MRPS21 EXON Missense_L75V,Missense_L75V exm94375 1 150312875 [A/G] NM_004698 PRPF3 EXON Missense_T402A exm94418 1 150416763 [T/C] NM_015203 RPRD2 EXON Missense_R202C exm94420 1 150418800 [T/C] NM_015203 RPRD2 EXON Missense_P265S exm94425 1 150429944 [A/G] NM_015203 RPRD2 EXON Missense_M351V exm94431 1 150432658 [A/G] NM_015203 RPRD2 EXON Missense_T426A exm94441 1 150437095 [A/G] NM_015203 RPRD2 EXON Missense_T502A exm2231138 1 150443354 [A/G] NM_015203 RPRD2 EXON Missense_T644A exm94448 1 150443553 [A/G] NM_015203 RPRD2 EXON Missense_R710H exm94453 1 150443738 [T/C] NM_015203 RPRD2 EXON Missense_P772S exm94456 1 150443780 [A/G] NM_015203 RPRD2 EXON Missense_V786I exm94458 1 150444026 [A/G] NM_015203 RPRD2 EXON Missense_E868K exm94474 1 150444432 [T/C] NM_015203 RPRD2 EXON Missense_T1003I exm94485 1 150444955 [A/T] NM_015203 RPRD2 EXON Missense_S1177R exm94486 1 150444959 [A/G] NM_015203 RPRD2 EXON Missense_G1179S exm94489 1 150445058 [T/C] NM_015203 RPRD2 EXON Missense_P1212S exm94498 1 150445316 [A/C] NM_015203 RPRD2 EXON Missense_P1298T exm94503 1 150445514 [T/C] NM_015203 RPRD2 EXON Missense_R1364C exm94520 1 150459992 [A/G] NM_025150,NR_073514,NR_073513,NM_001271896,NM_001271895 TARS2,TARS2,TARS2,TARS2,TARS2 EXON Synonymous_T22T,Silent,Silent,Synonymous_T22T,Synonymous_T22T exm94535 1 150463919 [A/C] NM_025150,NR_073514,NR_073513,NM_001271896,NM_001271895 TARS2,TARS2,TARS2,TARS2,TARS2 EXON Missense_L188I,Silent,Silent,Missense_L188I,Missense_L188I exm94536 1 150463923 [A/C] NM_025150,NR_073514,NR_073513,NM_001271896,NM_001271895 TARS2,TARS2,TARS2,TARS2,TARS2 EXON Missense_T189K,Silent,Silent,Missense_T189K,Missense_T189K exm1713377 1 150464913 [A/G] NM_025150,NR_073514,NR_073513,NM_001271896,NM_001271895 TARS2,TARS2,TARS2,TARS2,TARS2 EXON Missense_Q241R,Silent,Silent,Silent,Missense_Q241R exm94543 1 150464964 [T/C] NM_025150,NR_073514,NR_073513,NM_001271896,NM_001271895 TARS2,TARS2,TARS2,TARS2,TARS2 EXON Missense_S258L,Silent,Silent,Silent,Missense_S258L exm94551 1 150470019 [A/G] NM_025150,NR_073514,NR_073513,NM_001271896,NM_001271895 TARS2,TARS2,TARS2,TARS2,TARS2 EXON Missense_H345R,Silent,Silent,Missense_H215R,Missense_H263R exm94552 1 150470061 [T/C] NM_025150,NR_073514,NR_073513,NM_001271896,NM_001271895 TARS2,TARS2,TARS2,TARS2,TARS2 EXON Missense_T359M,Silent,Silent,Missense_T229M,Missense_T277M exm94557 1 150470145 [T/C] NM_025150,NR_073514,NR_073513,NM_001271896,NM_001271895 TARS2,TARS2,TARS2,TARS2,TARS2 EXON Missense_P387L,Silent,Silent,Missense_P257L,Missense_P305L exm94564 1 150471037 [T/G] NM_025150,NR_073514,NR_073513,NM_001271896,NM_001271895 TARS2,TARS2,TARS2,TARS2,TARS2 EXON Missense_F433C,Silent,Silent,Missense_F303C,Missense_F351C exm94569 1 150471093 [T/C] NM_025150,NR_073514,NR_073513,NM_001271896,NM_001271895 TARS2,TARS2,TARS2,TARS2,TARS2 EXON Missense_R452W,Silent,Silent,Missense_R322W,Missense_R370W exm94574 1 150471410 [A/G] NM_025150,NR_073514,NR_073513,NM_001271896,NM_001271895 TARS2,TARS2,TARS2,TARS2,TARS2 EXON Missense_R480H,Silent,Silent,Missense_R350H,Missense_R398H exm94576 1 150471424 [A/G] NM_025150,NR_073514,NR_073513,NM_001271896,NM_001271895 TARS2,TARS2,TARS2,TARS2,TARS2 EXON Missense_V485I,Silent,Silent,Missense_V355I,Missense_V403I exm94577 1 150471443 [A/G] NM_025150,NR_073514,NR_073513,NM_001271896,NM_001271895 TARS2,TARS2,TARS2,TARS2,TARS2 EXON Missense_R491H,Silent,Silent,Missense_R361H,Missense_R409H exm94587 1 150478134 [A/G] NM_025150,NR_073514,NR_073513,NM_001271896,NM_001271895 TARS2,TARS2,TARS2,TARS2,TARS2 EXON Missense_S654N,Silent,Silent,Missense_S524N,Missense_S572N exm2268759 1 150478623 [T/C] NM_025150,NR_073514,NR_073513,NM_001271896,NM_001271895 TARS2,TARS2,TARS2,TARS2,TARS2 Silent,Silent,Silent,Silent,Silent exm94605 1 150482145 [A/G] NM_022664,NM_004425,NM_001202858 ECM1,ECM1,ECM1 EXON Missense_A44T,Missense_A44T,Missense_A44T exm94625 1 150483355 [T/C] NM_022664,NM_004425,NM_001202858 ECM1,ECM1,ECM1 EXON Missense_T130M,Missense_T130M,Missense_T157M exm94627 1 150483471 [G/C] NM_022664,NM_004425,NM_001202858 ECM1,ECM1,ECM1 EXON Missense_P169A,Missense_P169A,Missense_P196A exm94632 1 150483580 [A/G] NM_022664,NM_004425,NM_001202858 ECM1,ECM1,ECM1 EXON Missense_R205H,Missense_R205H,Missense_R232H exm94645 1 150484020 [T/C] NM_022664,NM_004425,NM_001202858 ECM1,ECM1,ECM1 EXON Silent,Missense_R266W,Missense_R293W exm94647 1 150484069 [A/G] NM_022664,NM_004425,NM_001202858 ECM1,ECM1,ECM1 EXON Silent,Missense_R282Q,Missense_R309Q exm94651 1 150484180 [A/G] NM_022664,NM_004425,NM_001202858 ECM1,ECM1,ECM1 EXON Silent,Missense_R319H,Missense_R346H exm94652 1 150484191 [T/C] NM_022664,NM_004425,NM_001202858 ECM1,ECM1,ECM1 EXON Silent,Missense_R323C,Missense_R350C exm94655 1 150484257 [T/A] NM_022664,NM_004425,NM_001202858 ECM1,ECM1,ECM1 EXON Silent,Missense_F345I,Missense_F372I exm94656 1 150484273 [A/G] NM_022664,NM_004425,NM_001202858 ECM1,ECM1,ECM1 EXON Silent,Missense_R350H,Missense_R377H exm94665 1 150484897 [T/C] NM_022664,NM_004425,NM_001202858 ECM1,ECM1,ECM1 EXON Missense_R260C,Missense_R385C,Missense_R412C exm94669 1 150484937 [A/G] NM_022664,NM_004425,NM_001202858 ECM1,ECM1,ECM1 EXON Missense_R273H,Missense_R398H,Missense_R425H exm94673 1 150484987 [A/G] NM_022664,NM_004425,NM_001202858 ECM1,ECM1,ECM1 EXON Missense_G290S,Missense_G415S,Missense_G442S exm94674 1 150484991 [A/G] NM_022664,NM_004425,NM_001202858 ECM1,ECM1,ECM1 EXON Missense_R291Q,Missense_R416Q,Missense_R443Q exm94685 1 150485746 [T/C] NM_022664,NM_004425,NM_001202858 ECM1,ECM1,ECM1 EXON Nonsense_R351X,Nonsense_R476X,Nonsense_R503X exm94687 1 150485749 [T/C] NM_022664,NM_004425,NM_001202858 ECM1,ECM1,ECM1 EXON Missense_R352C,Missense_R477C,Missense_R504C exm94692 1 150485869 [A/G] NM_022664,NM_004425,NM_001202858 ECM1,ECM1,ECM1 EXON Missense_A392T,Missense_A517T,Missense_A544T exm94711 1 150525425 [A/G] NM_019032,NM_025008 ADAMTSL4,ADAMTSL4 EXON Missense_E44K,Missense_E44K exm94728 1 150525907 [A/G] NM_019032,NM_025008 ADAMTSL4,ADAMTSL4 EXON Missense_R147Q,Missense_R147Q exm94729 1 150525935 [A/G] NM_019032,NM_025008 ADAMTSL4,ADAMTSL4 EXON Missense_M156I,Missense_M156I exm94738 1 150526051 [T/C] NM_019032,NM_025008 ADAMTSL4,ADAMTSL4 EXON Missense_P195L,Missense_P195L exm94740 1 150526089 [A/G] NM_019032,NM_025008 ADAMTSL4,ADAMTSL4 EXON Missense_G208S,Missense_G208S exm94742 1 150526134 [A/T] NM_019032,NM_025008 ADAMTSL4,ADAMTSL4 EXON Missense_T223S,Missense_T223S exm94745 1 150526146 [A/C] NM_019032,NM_025008 ADAMTSL4,ADAMTSL4 EXON Missense_Q227K,Missense_Q227K exm94748 1 150526216 [A/G] NM_019032,NM_025008 ADAMTSL4,ADAMTSL4 EXON Missense_R250Q,Missense_R250Q exm94752 1 150526270 [T/C] NM_019032,NM_025008 ADAMTSL4,ADAMTSL4 EXON Missense_S268F,Missense_S268F exm94758 1 150526393 [A/G] NM_019032,NM_025008 ADAMTSL4,ADAMTSL4 EXON Missense_R309Q,Missense_R309Q exm94768 1 150526527 [T/C] NM_019032,NM_025008 ADAMTSL4,ADAMTSL4 EXON Missense_L354F,Missense_L354F exm94772 1 150526851 [G/C] NM_019032,NM_025008 ADAMTSL4,ADAMTSL4 EXON Missense_P381R,Missense_P381R exm94780 1 150527953 [A/G] NM_019032,NM_025008 ADAMTSL4,ADAMTSL4 EXON Missense_R428H,Missense_R428H exm94789 1 150528675 [A/G] NM_019032,NM_025008 ADAMTSL4,ADAMTSL4 EXON Missense_R470H,Missense_R470H exm94806 1 150529656 [T/C] NM_019032,NM_025008 ADAMTSL4,ADAMTSL4 EXON Missense_P631L,Missense_P631L exm94813 1 150529738 [G/C] NM_019032,NM_025008 ADAMTSL4,ADAMTSL4 EXON Missense_R658S,Missense_R658S exm94820 1 150530009 [T/C] NM_019032,NM_025008 ADAMTSL4,ADAMTSL4 EXON Missense_S696L,Missense_S696L exm94822 1 150530042 [T/C] NM_019032,NM_025008 ADAMTSL4,ADAMTSL4 EXON Missense_A707V,Missense_A707V exm94839 1 150530536 [T/C] NM_019032,NM_025008 ADAMTSL4,ADAMTSL4 EXON Missense_R765C,Missense_R765C exm94840 1 150530537 [A/G] NM_019032,NM_025008 ADAMTSL4,ADAMTSL4 EXON Missense_R765H,Missense_R765H exm94842 1 150530554 [T/C] NM_019032,NM_025008 ADAMTSL4,ADAMTSL4 EXON Missense_R771W,Missense_R771W exm94843 1 150530584 [T/C] NM_019032,NM_025008 ADAMTSL4,ADAMTSL4 EXON Missense_R781C,Missense_R781C exm94854 1 150530967 [T/C] NM_019032,NM_025008 ADAMTSL4,ADAMTSL4 EXON Missense_R801W,Missense_R801W exm94867 1 150531078 [A/G] NM_019032,NM_025008 ADAMTSL4,ADAMTSL4 EXON Missense_M838V,Missense_M838V exm94869 1 150531113 [G/C] NM_019032,NM_025008 ADAMTSL4,ADAMTSL4 EXON Missense_D849E,Missense_D849E exm94871 1 150531137 [A/C] NM_019032,NM_025008 ADAMTSL4,ADAMTSL4 EXON Silent,Missense_E857D exm94880 1 150531469 [A/G] NM_019032 ADAMTSL4 EXON Missense_R864Q exm94886 1 150531565 [A/G] NM_019032 ADAMTSL4 EXON Missense_R896Q exm94887 1 150531580 [A/G] NM_019032 ADAMTSL4 EXON Missense_R901H exm94904 1 150531848 [T/C] NM_019032 ADAMTSL4 EXON Missense_P950L exm94908 1 150531905 [A/C] NM_019032 ADAMTSL4 EXON Missense_A969D exm94914 1 150532270 [T/C] NM_019032 ADAMTSL4 EXON Missense_R993W exm94919 1 150532595 [A/G] NM_019032 ADAMTSL4 EXON Missense_V1050I exm94924 1 150532625 [C/G] NM_019032 ADAMTSL4 EXON Missense_R1060G exm94925 1 150532626 [A/G] NM_019032 ADAMTSL4 EXON Missense_R1060H exm2231149 1 150549863 [A/G] NM_001197320,NM_021960,NM_182763 MCL1,MCL1,MCL1 EXON Synonymous_Y194Y,Synonymous_Y347Y,Missense_S265P exm94943 1 150550761 [A/C] NM_001197320,NM_021960,NM_182763 MCL1,MCL1,MCL1 EXON Missense_V146L,Missense_V299L,Silent exm94952 1 150550965 [T/G] NM_001197320,NM_021960,NM_182763 MCL1,MCL1,MCL1 EXON Missense_M78L,Missense_M231L,Silent exm94958 1 150551327 [A/G] NM_001197320,NM_021960,NM_182763 MCL1,MCL1,MCL1 EXON Missense_A74V,Missense_A227V,Missense_A227V exm94964 1 150551419 [T/C] NM_001197320,NM_021960,NM_182763 MCL1,MCL1,MCL1 EXON Synonymous_T43T,Synonymous_T196T,Synonymous_T196T exm2249920 1 150551419 [T/C] NM_001197320,NM_021960,NM_182763 MCL1,MCL1,MCL1 EXON Synonymous_T43T,Synonymous_T196T,Synonymous_T196T exm94965 1 150551447 [T/C] NM_001197320,NM_021960,NM_182763 MCL1,MCL1,MCL1 EXON Silent,Missense_R187Q,Missense_R187Q exm94977 1 150551576 [A/G] NM_001197320,NM_021960,NM_182763 MCL1,MCL1,MCL1 EXON Silent,Missense_L144P,Missense_L144P exm94981 1 150551649 [T/C] NM_001197320,NM_021960,NM_182763 MCL1,MCL1,MCL1 EXON Silent,Missense_M120V,Missense_M120V exm95005 1 150598965 [A/G] NM_207046,NM_004436,NM_207045,NM_207042,NM_207047,NM_207044,NM_207043 ENSA,ENSA,ENSA,ENSA,ENSA,ENSA,ENSA EXON Silent,Silent,Missense_A70V,Missense_A74V,Silent,Silent,Missense_A74V exm95011 1 150599849 [T/C] NM_207046,NM_004436,NM_207045,NM_207042,NM_207047,NM_207044,NM_207043,NM_207168 ENSA,ENSA,ENSA,ENSA,ENSA,ENSA,ENSA,ENSA EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_V93I exm95026 1 150620852 [T/C] NM_018178 GOLPH3L EXON Missense_K268R exm95031 1 150621007 [G/C] NM_018178 GOLPH3L EXON Missense_Q216H exm95041 1 150636130 [T/C] NM_018178 GOLPH3L EXON Missense_K98R exm-rs11204697 1 150658971 [T/C] NM_018178 GOLPH3L Silent exm95054 1 150667169 [A/G] NM_018178 GOLPH3L EXON Missense_M49T exm2231150 1 150667199 [T/C] NM_018178 GOLPH3L EXON Missense_G39E exm95066 1 150672619 [T/C] NM_001199829,NM_032132 HORMAD1,HORMAD1 EXON Missense_R351Q,Missense_R358Q exm95068 1 150675830 [T/A] NM_001199829,NM_032132 HORMAD1,HORMAD1 EXON Missense_S323T,Missense_S330T exm95078 1 150679030 [T/C] NM_001199829,NM_032132 HORMAD1,HORMAD1 EXON Missense_S261N,Missense_S268N exm95079 1 150679033 [A/G] NM_001199829,NM_032132 HORMAD1,HORMAD1 EXON Missense_T260I,Missense_T267I exm95094 1 150684047 [T/C] NM_001199829,NM_032132 HORMAD1,HORMAD1 EXON Missense_V94I,Missense_V101I exm95119 1 150722511 [T/C] NM_004079,NM_001199739 CTSS,CTSS EXON Missense_R255H,Missense_R205H exm1713565 1 150727538 [T/C] NM_004079,NM_001199739 CTSS,CTSS EXON Missense_R113Q,Silent exm95130 1 150727539 [A/G] NM_004079,NM_001199739 CTSS,CTSS EXON Missense_R113W,Silent exm95141 1 150737220 [A/G] NM_004079,NM_001199739 CTSS,CTSS EXON Missense_V7A,Missense_V7A exm1713573 1 150771718 [A/T] NM_000396 CTSK EXON Missense_D272E exm95150 1 150771722 [T/C] NM_000396 CTSK EXON Missense_S271N exm95153 1 150772083 [A/G] NM_000396 CTSK EXON Nonsense_R241X exm95171 1 150778652 [T/C] NM_000396 CTSK EXON Missense_I57V exm95188 1 150784532 [G/C] NM_001197325,NM_001668,NM_178427 ARNT,ARNT,ARNT EXON Missense_P763A,Missense_P779A,Missense_P764A exm95198 1 150785811 [A/G] NM_001197325,NM_001668,NM_178427 ARNT,ARNT,ARNT EXON Missense_P690L,Missense_P706L,Missense_P691L exm1713582 1 150786567 [T/C] NM_001197325,NM_001668,NM_178427 ARNT,ARNT,ARNT EXON Missense_R684H,Missense_R700H,Missense_R685H exm95207 1 150788875 [T/C] NM_001197325,NM_001668,NM_178427 ARNT,ARNT,ARNT EXON Missense_G589S,Missense_G604S,Missense_G589S exm95209 1 150789560 [A/G] NM_001197325,NM_001668,NM_178427 ARNT,ARNT,ARNT EXON Missense_A551V,Missense_A566V,Missense_A551V exm95214 1 150789864 [A/C] NM_001197325,NM_001668,NM_178427 ARNT,ARNT,ARNT EXON Missense_D502E,Missense_D517E,Missense_D502E exm95215 1 150789884 [T/C] NM_001197325,NM_001668,NM_178427 ARNT,ARNT,ARNT EXON Missense_D496N,Missense_D511N,Missense_D496N exm95240 1 150804339 [T/C] NM_001197325,NM_001668,NM_178427 ARNT,ARNT,ARNT EXON Missense_V289M,Missense_V304M,Missense_V289M exm95244 1 150804813 [A/C] NM_001197325,NM_001668,NM_178427 ARNT,ARNT,ARNT EXON Missense_C274F,Missense_C289F,Missense_C274F exm95253 1 150808899 [A/C] NM_001197325,NM_001668,NM_178427 ARNT,ARNT,ARNT EXON Missense_V171G,Missense_V186G,Missense_V171G exm95278 1 150830859 [T/C] NM_001197325,NM_001668,NM_178427 ARNT,ARNT,ARNT EXON Missense_A35T,Missense_A35T,Missense_A35T exm2268760 1 150856153 [T/G] exm95298 1 150900260 [C/G] NM_012432,NM_001243491,NM_001145415 SETDB1,SETDB1,SETDB1 EXON Missense_E24Q,Missense_E24Q,Missense_E24Q exm95303 1 150900342 [T/C] NM_012432,NM_001243491,NM_001145415 SETDB1,SETDB1,SETDB1 EXON Missense_M51T,Missense_M51T,Missense_M51T exm95330 1 150916469 [T/C] NM_012432,NM_001243491,NM_001145415 SETDB1,SETDB1,SETDB1 EXON Synonymous_L317L,Synonymous_L317L,Synonymous_L317L exm95338 1 150921669 [T/C] NM_012432,NM_001145415 SETDB1,SETDB1 EXON Missense_P447S,Missense_P447S exm95346 1 150922939 [T/C] NM_012432,NM_001145415 SETDB1,SETDB1 EXON Missense_P529L,Missense_P529L exm95353 1 150923100 [A/C] NM_012432,NM_001145415 SETDB1,SETDB1 EXON Missense_L583M,Missense_L583M exm95381 1 150933468 [T/C] NM_012432,NM_001145415 SETDB1,SETDB1 EXON Missense_P977L,Missense_P977L exm95382 1 150933514 [A/T] NM_012432,NM_001145415 SETDB1,SETDB1 EXON Missense_E992D,Missense_E992D exm95386 1 150933591 [T/G] NM_012432,NM_001145415 SETDB1,SETDB1 EXON Missense_R1018L,Missense_R1018L exm95387 1 150933600 [T/C] NM_012432,NM_001145415 SETDB1,SETDB1 EXON Missense_A1021V,Missense_A1021V exm95398 1 150935124 [T/C] NM_012432,NM_001145415 SETDB1,SETDB1 EXON Missense_R1074C,Missense_R1074C exm95399 1 150935127 [T/C] NM_012432,NM_001145415 SETDB1,SETDB1 EXON Missense_R1075C,Missense_R1075C exm95403 1 150935173 [T/C] NM_012432,NM_001145415 SETDB1,SETDB1 EXON Missense_A1090V,Missense_A1090V exm95411 1 150935614 [T/C] NM_012432,NM_001145415 SETDB1,SETDB1 EXON Synonymous_T1152T,Synonymous_T1152T exm95422 1 150936217 [T/C] NM_012432,NM_001145415 SETDB1,SETDB1 EXON Synonymous_N1223N,Synonymous_N1223N exm2249923 1 150939279 [A/G] NM_181746,NM_022075 CERS2,CERS2 EXON Synonymous_V267V,Synonymous_V267V exm95443 1 150939281 [T/C] NM_181746,NM_022075 CERS2,CERS2 EXON Missense_V267I,Missense_V267I exm95462 1 150940296 [A/G] NM_181746,NM_022075 CERS2,CERS2 EXON Synonymous_D156D,Synonymous_D156D exm95464 1 150940307 [T/C] NM_181746,NM_022075 CERS2,CERS2 EXON Missense_V153I,Missense_V153I exm95465 1 150940308 [A/G] NM_181746,NM_022075 CERS2,CERS2 EXON Synonymous_A152A,Synonymous_A152A exm95472 1 150940625 [T/G] NM_181746,NM_022075 CERS2,CERS2 EXON Missense_E115A,Missense_E115A exm95477 1 150940655 [T/C] NM_181746,NM_022075 CERS2,CERS2 EXON Missense_R105Q,Missense_R105Q exm95481 1 150940919 [A/G] NM_181746,NM_022075 CERS2,CERS2 EXON Synonymous_N81N,Synonymous_N81N exm95482 1 150940920 [T/C] NM_181746,NM_022075 CERS2,CERS2 EXON Missense_N81S,Missense_N81S exm-rs267734 1 150951477 [T/C] exm95494 1 150955582 [A/G] NM_003568 ANXA9 EXON Missense_M1V exm95499 1 150955610 [T/C] NM_003568 ANXA9 EXON Missense_P10L exm95502 1 150955820 [A/G] NM_003568 ANXA9 EXON Missense_A28T exm95505 1 150955898 [A/G] NM_003568 ANXA9 EXON Missense_I54V exm95508 1 150956469 [T/C] NM_003568 ANXA9 EXON Missense_I64T exm95515 1 150956535 [T/G] NM_003568 ANXA9 EXON Missense_R86L exm95517 1 150956829 [A/G] NM_003568 ANXA9 EXON Missense_T114A exm95519 1 150956844 [A/G] NM_003568 ANXA9 EXON Missense_A119T exm95520 1 150957061 [A/G] NM_003568 ANXA9 Silent exm95521 1 150957128 [A/G] NM_003568 ANXA9 EXON Missense_E150K exm95523 1 150958836 [A/G] NM_003568 ANXA9 EXON Missense_D166G exm95527 1 150959078 [C/G] NM_003568 ANXA9 EXON Missense_G185R exm2231159 1 150960423 [T/C] NM_003568 ANXA9 EXON Missense_L230F exm95530 1 150960430 [A/G] NM_003568 ANXA9 EXON Missense_R232Q exm95532 1 150960593 [A/G] NM_003568 ANXA9 EXON Missense_G242R exm95534 1 150960762 [T/C] NM_003568 ANXA9 EXON Missense_S266L exm95535 1 150960780 [T/C] NM_003568 ANXA9 EXON Missense_P272L exm95537 1 150960817 [C/G] NM_003568 ANXA9 EXON Missense_Q284H exm95540 1 150967111 [A/G] NM_003568 ANXA9 EXON Missense_D304G exm2273335 1 150969567 [A/G] NM_001163259,NM_001163260,NM_018379,NM_001040217,NM_001163258 FAM63A,FAM63A,FAM63A,FAM63A,FAM63A EXON Silent,Silent,Silent,Silent,Silent exm95555 1 150970119 [A/G] NM_001163259,NM_001163260,NM_018379,NM_001040217,NM_001163258 FAM63A,FAM63A,FAM63A,FAM63A,FAM63A EXON Missense_T342M,Missense_T295M,Missense_T437M,Missense_T295M,Missense_T485M exm2231161 1 150970216 [A/G] NM_001163259,NM_001163260,NM_018379,NM_001040217,NM_001163258 FAM63A,FAM63A,FAM63A,FAM63A,FAM63A EXON Nonsense_R310X,Nonsense_R263X,Nonsense_R405X,Nonsense_R263X,Nonsense_R453X exm95563 1 150970577 [T/G] NM_001163259,NM_001163260,NM_018379,NM_001040217,NM_001163258 FAM63A,FAM63A,FAM63A,FAM63A,FAM63A EXON Missense_T290K,Missense_T243K,Missense_T385K,Missense_T243K,Missense_T433K exm95569 1 150970680 [A/G] NM_001163259,NM_001163260,NM_018379,NM_001040217,NM_001163258 FAM63A,FAM63A,FAM63A,FAM63A,FAM63A EXON Missense_H256Y,Missense_H209Y,Missense_H351Y,Missense_H209Y,Missense_H399Y exm95572 1 150971879 [T/C] NM_001163259,NM_001163260,NM_018379,NM_001040217,NM_001163258 FAM63A,FAM63A,FAM63A,FAM63A,FAM63A EXON Missense_R221Q,Missense_R174Q,Missense_R316Q,Missense_R174Q,Missense_R364Q exm95573 1 150971880 [A/G] NM_001163259,NM_001163260,NM_018379,NM_001040217,NM_001163258 FAM63A,FAM63A,FAM63A,FAM63A,FAM63A EXON Nonsense_R221X,Nonsense_R174X,Nonsense_R316X,Nonsense_R174X,Nonsense_R364X exm95579 1 150971949 [A/G] NM_001163259,NM_001163260,NM_018379,NM_001040217,NM_001163258 FAM63A,FAM63A,FAM63A,FAM63A,FAM63A EXON Nonsense_Q198X,Nonsense_Q151X,Nonsense_Q293X,Nonsense_Q151X,Nonsense_Q341X exm95589 1 150973013 [T/C] NM_001163259,NM_001163260,NM_018379,NM_001040217,NM_001163258 FAM63A,FAM63A,FAM63A,FAM63A,FAM63A EXON Missense_D124N,Missense_D77N,Missense_D219N,Missense_D77N,Missense_D267N exm95596 1 150974202 [A/G] NM_001163259,NM_001163260,NM_018379,NM_001040217,NM_001163258 FAM63A,FAM63A,FAM63A,FAM63A,FAM63A EXON Synonymous_L75L,Synonymous_L28L,Synonymous_L170L,Synonymous_L28L,Synonymous_L218L exm95602 1 150974740 [T/C] NM_001163259,NM_001163260,NM_018379,NM_001040217,NM_001163258 FAM63A,FAM63A,FAM63A,FAM63A,FAM63A EXON Nonsense_W23X,Silent,Nonsense_W118X,Silent,Nonsense_W166X exm95607 1 150974828 [T/C] NM_001163259,NM_001163260,NM_018379,NM_001040217,NM_001163258 FAM63A,FAM63A,FAM63A,FAM63A,FAM63A EXON Silent,Silent,Missense_E89G,Silent,Missense_E137G exm95608 1 150974861 [A/G] NM_001163259,NM_001163260,NM_018379,NM_001040217,NM_001163258 FAM63A,FAM63A,FAM63A,FAM63A,FAM63A EXON Silent,Silent,Missense_P78L,Silent,Missense_P126L exm95615 1 150974971 [T/A] NM_001163259,NM_001163260,NM_018379,NM_001040217,NM_001163258 FAM63A,FAM63A,FAM63A,FAM63A,FAM63A EXON Silent,Silent,Missense_R41S,Silent,Missense_R89S exm95619 1 150975108 [T/C] NM_001163259,NM_001163260,NM_018379,NM_001040217,NM_001163258 FAM63A,FAM63A,FAM63A,FAM63A,FAM63A EXON Silent,Silent,Silent,Silent,Missense_K44E exm95624 1 150990292 [T/C] NM_021222 PRUNE EXON Missense_S15F exm95625 1 150990304 [A/G] NM_021222 PRUNE EXON Missense_H19R exm95626 1 150990325 [C/G] NM_021222 PRUNE EXON Missense_A26G exm95637 1 150991132 [T/C] NM_021222 PRUNE EXON Missense_H108Y exm95641 1 150997155 [A/G] NM_021222 PRUNE EXON Missense_C135Y exm95644 1 150997211 [A/G] NM_021222 PRUNE EXON Missense_E154K exm95649 1 150998110 [A/G] NM_021222 PRUNE EXON Missense_I214V exm95656 1 150999765 [A/G] NM_021222 PRUNE EXON Missense_V246I exm95663 1 151001419 [T/C] NM_021222 PRUNE EXON Missense_T311M exm95666 1 151006310 [T/C] NM_021222 PRUNE EXON Missense_S321F exm95669 1 151006406 [C/G] NM_021222 PRUNE EXON Missense_P353R exm95674 1 151006537 [A/G] NM_021222 PRUNE EXON Missense_G397S exm95679 1 151006691 [T/C] NM_021222 PRUNE EXON Missense_A448V exm95682 1 151009208 [A/G] NM_138278,NM_001159642 BNIPL,BNIPL EXON Missense_T3A,Silent exm95696 1 151011325 [T/C] NM_138278,NM_001159642 BNIPL,BNIPL EXON Missense_R86C,Missense_R4C exm95698 1 151011347 [A/G] NM_138278,NM_001159642 BNIPL,BNIPL EXON Missense_R93Q,Missense_R11Q exm95700 1 151011437 [T/C] NM_138278,NM_001159642 BNIPL,BNIPL EXON Missense_I123T,Missense_I41T exm95707 1 151015495 [A/G] NM_138278,NM_001159642 BNIPL,BNIPL EXON Missense_C166Y,Missense_C84Y exm95712 1 151015564 [A/G] NM_138278,NM_001159642 BNIPL,BNIPL EXON Missense_R189H,Missense_R107H exm95713 1 151015816 [A/G] NM_138278,NM_001159642 BNIPL,BNIPL EXON Missense_G209S,Missense_G127S exm95714 1 151015832 [T/C] NM_138278,NM_001159642 BNIPL,BNIPL EXON Missense_A214V,Missense_A132V exm95715 1 151015868 [A/G] NM_138278,NM_001159642 BNIPL,BNIPL EXON Missense_S226N,Missense_S144N exm95717 1 151016109 [A/G] NM_138278,NM_001159642 BNIPL,BNIPL EXON Missense_N253D,Missense_N171D exm2249924 1 151016150 [G/C] NM_138278,NM_001159642 BNIPL,BNIPL EXON Synonymous_A266A,Synonymous_A184A exm95719 1 151016171 [A/G] NM_138278,NM_001159642 BNIPL,BNIPL EXON Nonsense_W273X,Nonsense_W191X exm95721 1 151016175 [T/C] NM_138278,NM_001159642 BNIPL,BNIPL EXON Missense_R275C,Missense_R193C exm1713781 1 151016188 [A/G] NM_138278,NM_001159642 BNIPL,BNIPL EXON Missense_R279H,Missense_R197H exm95736 1 151018565 [T/C] NM_138278,NM_001159642 BNIPL,BNIPL EXON Missense_R321C,Missense_R239C exm95737 1 151018566 [A/G] NM_138278,NM_001159642 BNIPL,BNIPL EXON Missense_R321H,Missense_R239H exm95739 1 151019128 [T/C] NM_138278,NM_001159642 BNIPL,BNIPL EXON Synonymous_L347L,Synonymous_L265L exm95752 1 151020469 [A/G] NM_017860 C1orf56 EXON Missense_R49Q exm95753 1 151020478 [T/C] NM_017860 C1orf56 EXON Missense_A52V exm95754 1 151020534 [A/G] NM_017860 C1orf56 EXON Missense_M71V exm95764 1 151020856 [T/C] NM_017860 C1orf56 EXON Missense_P178L exm95772 1 151021096 [T/G] NM_017860 C1orf56 EXON Missense_L258R exm95777 1 151021185 [C/G] NM_017860 C1orf56 EXON Missense_P288A exm95794 1 151028154 [A/G] NM_020239,NM_001038707 CDC42SE1,CDC42SE1 EXON Missense_P18L,Missense_P18L exm95803 1 151039845 [T/A] NM_006818 MLLT11 EXON Missense_I49F exm95814 1 151062922 [A/G] NM_144618 GABPB2 EXON Missense_H50R exm95817 1 151062957 [A/G] NM_144618 GABPB2 EXON Missense_V62I exm95822 1 151065732 [A/G] NM_144618 GABPB2 EXON Missense_R114H exm95833 1 151076050 [T/C] NM_144618 GABPB2 EXON Missense_A212V exm95835 1 151076116 [A/C] NM_144618 GABPB2 EXON Missense_A234E exm95840 1 151079552 [T/C] NM_144618 GABPB2 EXON Missense_S259L exm95842 1 151079590 [A/G] NM_144618 GABPB2 EXON Missense_V272I exm95849 1 151089885 [C/G] NM_144618 GABPB2 EXON Missense_G314R exm95850 1 151089888 [A/C] NM_144618 GABPB2 EXON Missense_K315Q exm95857 1 151090542 [A/G] NM_144618 GABPB2 EXON Missense_R386H exm95858 1 151090565 [T/C] NM_144618 GABPB2 EXON Nonsense_R394X exm95861 1 151090581 [A/G] NM_144618 GABPB2 EXON Missense_G399E exm95874 1 151105169 [T/C] NM_001178061,NM_030913,NM_001178062 SEMA6C,SEMA6C,SEMA6C EXON Missense_A894T,Missense_A862T,Missense_A854T exm95881 1 151105547 [A/G] NM_001178061,NM_030913,NM_001178062 SEMA6C,SEMA6C,SEMA6C EXON Missense_R768W,Missense_R736W,Missense_R728W exm95898 1 151105831 [T/C] NM_001178061,NM_030913,NM_001178062 SEMA6C,SEMA6C,SEMA6C EXON Missense_E673G,Missense_E641G,Missense_E633G exm95910 1 151107140 [T/G] NM_001178061,NM_030913,NM_001178062 SEMA6C,SEMA6C,SEMA6C EXON Missense_D557A,Missense_D557A,Missense_D517A exm95916 1 151107277 [T/C] NM_001178061,NM_030913,NM_001178062 SEMA6C,SEMA6C,SEMA6C EXON Missense_G552D,Missense_G552D,Missense_G512D exm95917 1 151107304 [G/C] NM_001178061,NM_030913,NM_001178062 SEMA6C,SEMA6C,SEMA6C EXON Missense_R543T,Missense_R543T,Missense_R503T exm95933 1 151108137 [T/G] NM_001178061,NM_030913,NM_001178062 SEMA6C,SEMA6C,SEMA6C EXON Missense_T455P,Missense_T455P,Missense_T415P exm95945 1 151108622 [T/C] NM_001178061,NM_030913,NM_001178062 SEMA6C,SEMA6C,SEMA6C EXON Missense_G375E,Missense_G375E,Missense_G335E exm95948 1 151108993 [T/G] NM_001178061,NM_030913,NM_001178062 SEMA6C,SEMA6C,SEMA6C EXON Missense_K346T,Missense_K346T,Missense_K306T exm95958 1 151109517 [A/G] NM_001178061,NM_030913,NM_001178062 SEMA6C,SEMA6C,SEMA6C EXON Missense_R264C,Missense_R264C,Missense_R224C exm95962 1 151110221 [T/C] NM_001178061,NM_030913,NM_001178062 SEMA6C,SEMA6C,SEMA6C EXON Missense_R241H,Missense_R241H,Missense_R201H exm95969 1 151110500 [C/G] NM_001178061,NM_030913,NM_001178062 SEMA6C,SEMA6C,SEMA6C EXON Missense_P210R,Missense_P210R,Silent exm95971 1 151110510 [A/G] NM_001178061,NM_030913,NM_001178062 SEMA6C,SEMA6C,SEMA6C EXON Missense_P207S,Missense_P207S,Silent exm95980 1 151111901 [T/C] NM_001178061,NM_030913,NM_001178062 SEMA6C,SEMA6C,SEMA6C EXON Synonymous_T118T,Synonymous_T118T,Synonymous_T118T exm95991 1 151112158 [T/C] NM_001178061,NM_030913,NM_001178062 SEMA6C,SEMA6C,SEMA6C EXON Missense_D85N,Missense_D85N,Missense_D85N exm95995 1 151112483 [T/C] NM_001178061,NM_030913,NM_001178062 SEMA6C,SEMA6C,SEMA6C EXON Missense_T68A,Missense_T68A,Missense_T68A exm95998 1 151115007 [A/G] NM_001178061,NM_030913,NM_001178062 SEMA6C,SEMA6C,SEMA6C EXON Missense_L31F,Missense_L31F,Missense_L31F exm2259804 1 151122489 [T/C] exm96009 1 151131288 [A/C] NM_024575,NM_001204848 TNFAIP8L2,TNFAIP8L2-SCNM1 EXON Missense_L39I,Silent exm1713874 1 151131322 [C/G] NM_024575,NM_001204848 TNFAIP8L2,TNFAIP8L2-SCNM1 EXON Missense_T50R,Silent exm96015 1 151131444 [T/C] NM_024575,NM_001204848 TNFAIP8L2,TNFAIP8L2-SCNM1 EXON Missense_R91C,Silent exm96020 1 151131507 [A/G] NM_024575,NM_001204848 TNFAIP8L2,TNFAIP8L2-SCNM1 EXON Missense_E112K,Silent exm96044 1 151133450 [T/G] NM_001204848,NM_001136543,NM_212551 TNFAIP8L2-SCNM1,LYSMD1,LYSMD1 EXON Silent,Missense_Q150K,Missense_Q198K exm96046 1 151134293 [C/G] NM_001204848,NM_001136543,NM_212551 TNFAIP8L2-SCNM1,LYSMD1,LYSMD1 EXON Silent,Missense_S107C,Missense_S155C exm96047 1 151134320 [A/G] NM_001204848,NM_001136543,NM_212551 TNFAIP8L2-SCNM1,LYSMD1,LYSMD1 EXON Silent,Missense_P98L,Missense_P146L exm96050 1 151134362 [T/C] NM_001204848,NM_001136543,NM_212551 TNFAIP8L2-SCNM1,LYSMD1,LYSMD1 EXON Silent,Missense_R84H,Missense_R132H exm96061 1 151137632 [C/G] NM_001204848,NM_001136543,NM_212551 TNFAIP8L2-SCNM1,LYSMD1,LYSMD1 EXON Silent,Silent,Missense_V35L exm96062 1 151137646 [T/G] NM_001204848,NM_001136543,NM_212551 TNFAIP8L2-SCNM1,LYSMD1,LYSMD1 EXON Silent,Silent,Nonsense_S30X exm96069 1 151138250 [T/G] NM_001204848,NM_001136543,NM_212551 TNFAIP8L2-SCNM1,LYSMD1,LYSMD1 EXON Silent,Missense_S3R,Silent exm96077 1 151138669 [A/G] NM_001204848,NM_024041,NR_037937,NM_001204856 TNFAIP8L2-SCNM1,SCNM1,SCNM1,SCNM1 EXON Silent,Missense_N14S,Silent,Silent exm1713883 1 151139001 [T/A] NM_001204848,NM_024041,NR_037937,NM_001204856 TNFAIP8L2-SCNM1,SCNM1,SCNM1,SCNM1 EXON Missense_M1L,Missense_M36L,Silent,Missense_M1L exm96086 1 151139597 [G/C] NM_001204848,NM_024041,NR_037937,NM_001204856 TNFAIP8L2-SCNM1,SCNM1,SCNM1,SCNM1 EXON Missense_S36T,Missense_S71T,Silent,Missense_S36T exm96094 1 151139877 [T/C] NM_001204848,NM_024041,NR_037937,NM_001204856 TNFAIP8L2-SCNM1,SCNM1,SCNM1,SCNM1 EXON Missense_R94C,Missense_R129C,Silent,Missense_R94C exm96102 1 151140676 [A/G] NM_001204848,NM_024041,NR_037937,NM_001204856 TNFAIP8L2-SCNM1,SCNM1,SCNM1,SCNM1 EXON Missense_K117R,Missense_K152R,Silent,Missense_K117R exm96106 1 151140732 [A/G] NM_001204848,NM_024041,NR_037937,NM_001204856 TNFAIP8L2-SCNM1,SCNM1,SCNM1,SCNM1 EXON Missense_E136K,Missense_E171K,Silent,Missense_E136K exm96107 1 151140742 [T/C] NM_001204848,NM_024041,NR_037937,NM_001204856 TNFAIP8L2-SCNM1,SCNM1,SCNM1,SCNM1 EXON Missense_A139V,Missense_A174V,Silent,Missense_A139V exm96111 1 151141485 [G/C] NM_001204848,NM_024041,NR_037937,NM_001204856 TNFAIP8L2-SCNM1,SCNM1,SCNM1,SCNM1 EXON Missense_R171P,Missense_R206P,Silent,Missense_R171P exm96112 1 151141495 [G/C] NM_001204848,NM_024041,NR_037937,NM_001204856 TNFAIP8L2-SCNM1,SCNM1,SCNM1,SCNM1 EXON Missense_W174C,Missense_W209C,Silent,Missense_W174C exm96120 1 151142995 [A/G] NM_013353 TMOD4 EXON Missense_R339C exm96121 1 151143003 [T/C] NM_013353 TMOD4 EXON Missense_N336S exm96123 1 151143009 [T/C] NM_013353 TMOD4 EXON Missense_R334Q exm96125 1 151143012 [T/G] NM_013353 TMOD4 EXON Missense_T333N exm96126 1 151143016 [T/C] NM_013353 TMOD4 EXON Missense_M332V exm96129 1 151143043 [T/C] NM_013353 TMOD4 EXON Missense_G323R exm96135 1 151143138 [T/C] NM_013353 TMOD4 EXON Missense_R291H exm96140 1 151143437 [A/G] NM_013353 TMOD4 EXON Missense_R277W exm96149 1 151143970 [C/G] NM_013353 TMOD4 EXON Missense_A222G exm96150 1 151144001 [T/G] NM_013353 TMOD4 EXON Missense_M212L exm96157 1 151144206 [A/G] NM_013353 TMOD4 EXON Missense_P174L exm96158 1 151144240 [G/C] NM_013353 TMOD4 Silent exm96159 1 151144746 [G/C] NM_013353 TMOD4 EXON Missense_S162T exm96166 1 151146010 [C/G] NM_013353 TMOD4 EXON Missense_A121G exm96171 1 151146954 [A/G] NM_013353 TMOD4 EXON Nonsense_R65X exm96182 1 151149265 [T/C] NM_001271088,NM_001271087,NM_005997 VPS72,VPS72,VPS72 EXON Silent,Missense_K328R,Missense_K317R exm96188 1 151149392 [T/C] NM_001271088,NM_001271087,NM_005997 VPS72,VPS72,VPS72 EXON Silent,Missense_E286K,Missense_E275K exm96192 1 151149452 [T/C] NM_001271088,NM_001271087,NM_005997 VPS72,VPS72,VPS72 EXON Silent,Missense_V266I,Missense_V255I exm96195 1 151149487 [A/G] NM_001271088,NM_001271087,NM_005997 VPS72,VPS72,VPS72 EXON Silent,Missense_V254A,Missense_V243A exm96197 1 151149490 [A/G] NM_001271088,NM_001271087,NM_005997 VPS72,VPS72,VPS72 EXON Silent,Missense_S253L,Missense_S242L exm96213 1 151158036 [T/C] NM_001271088,NM_001271087,NM_005997 VPS72,VPS72,VPS72 EXON Missense_A111T,Missense_A111T,Missense_A111T exm96238 1 151196856 [T/G] NM_001135636,NM_001135637,NM_003557,NM_001135638 PIP5K1A,PIP5K1A,PIP5K1A,PIP5K1A EXON Silent,Silent,Silent,Missense_A44S exm1713956 1 151214944 [T/C] NM_001135636,NM_001135637,NM_003557,NM_001135638 PIP5K1A,PIP5K1A,PIP5K1A,PIP5K1A EXON Missense_P474L,Missense_P452L,Missense_P501L,Missense_P514L exm2249926 1 151230929 [T/G] NM_002810 PSMD4 Silent exm2249927 1 151237908 [A/G] NM_002810 PSMD4 EXON Synonymous_T159T exm96375 1 151259113 [A/G] NM_020832 ZNF687 EXON Missense_G116R exm96379 1 151259294 [T/C] NM_020832 ZNF687 EXON Missense_P176L exm96391 1 151259543 [A/G] NM_020832 ZNF687 EXON Missense_G259E exm96394 1 151259628 [A/T] NM_020832 ZNF687 EXON Missense_E287D exm96395 1 151259666 [T/G] NM_020832 ZNF687 EXON Missense_G300V exm2249928 1 151259730 [G/C] NM_020832 ZNF687 EXON Synonymous_A321A exm96403 1 151259855 [T/C] NM_020832 ZNF687 EXON Missense_A363V exm96405 1 151259899 [T/C] NM_020832 ZNF687 EXON Missense_P378S exm96426 1 151260472 [T/C] NM_020832 ZNF687 EXON Missense_R569C exm96431 1 151260538 [A/G] NM_020832 ZNF687 EXON Missense_V591I exm96434 1 151260673 [A/G] NM_020832 ZNF687 EXON Missense_G636S exm96437 1 151260715 [A/G] NM_020832 ZNF687 EXON Missense_A650T exm96465 1 151262200 [T/C] NM_020832 ZNF687 EXON Missense_A894V exm96468 1 151262332 [A/C] NM_020832 ZNF687 EXON Missense_P938H exm96487 1 151262945 [G/C] NM_020832 ZNF687 EXON Missense_L1039V exm2273689 1 151263026 [T/C] NM_020832 ZNF687 EXON Missense_R1066W exm96494 1 151263209 [T/C] NM_020832 ZNF687 EXON Missense_R1080C exm96503 1 151263308 [T/C] NM_020832 ZNF687 EXON Missense_R1113C exm96504 1 151263315 [A/G] NM_020832 ZNF687 EXON Missense_R1115Q exm96509 1 151263397 [T/G] NM_020832 ZNF687 EXON Missense_L1142F exm96514 1 151263456 [A/G] NM_020832 ZNF687 EXON Missense_R1162Q exm96519 1 151263530 [A/G] NM_020832 ZNF687 EXON Missense_D1187N exm96536 1 151265463 [C/G] NM_002651,NM_001198773,NM_001198774,NM_001198775 PI4KB,PI4KB,PI4KB,PI4KB EXON Synonymous_L784L,Synonymous_L757L,Synonymous_L757L,Synonymous_L440L exm2249929 1 151265463 [C/G] NM_002651,NM_001198773,NM_001198774,NM_001198775 PI4KB,PI4KB,PI4KB,PI4KB EXON Synonymous_L784L,Synonymous_L757L,Synonymous_L757L,Synonymous_L440L exm96548 1 151271498 [G/C] NM_002651,NM_001198773,NM_001198774,NM_001198775 PI4KB,PI4KB,PI4KB,PI4KB EXON Missense_L613V,Missense_L586V,Missense_L586V,Missense_L269V exm96573 1 151288095 [T/C] NM_002651,NM_001198773,NM_001198774,NM_001198775 PI4KB,PI4KB,PI4KB,PI4KB EXON Missense_N300S,Missense_N288S,Missense_N288S,Silent exm96593 1 151288698 [A/C] NM_002651,NM_001198773,NM_001198774,NM_001198775 PI4KB,PI4KB,PI4KB,PI4KB EXON Missense_I99S,Missense_I87S,Missense_I87S,Silent exm96603 1 151288780 [T/G] NM_002651,NM_001198773,NM_001198774,NM_001198775 PI4KB,PI4KB,PI4KB,PI4KB EXON Missense_K72Q,Missense_K60Q,Missense_K60Q,Silent exm96605 1 151288857 [A/G] NM_002651,NM_001198773,NM_001198774,NM_001198775 PI4KB,PI4KB,PI4KB,PI4KB EXON Missense_T46M,Missense_T34M,Missense_T34M,Silent exm96607 1 151288896 [C/G] NM_002651,NM_001198773,NM_001198774,NM_001198775 PI4KB,PI4KB,PI4KB,PI4KB EXON Missense_P33R,Missense_P21R,Missense_P21R,Silent exm96616 1 151314683 [G/C] NM_000449,NM_001025603 RFX5,RFX5 EXON Missense_D610E,Missense_D610E exm96622 1 151314825 [A/G] NM_000449,NM_001025603 RFX5,RFX5 EXON Missense_S563L,Missense_S563L exm96626 1 151314874 [T/C] NM_000449,NM_001025603 RFX5,RFX5 EXON Missense_G547S,Missense_G547S exm96628 1 151315018 [A/G] NM_000449,NM_001025603 RFX5,RFX5 EXON Missense_P499S,Missense_P499S exm96633 1 151315134 [T/C] NM_000449,NM_001025603 RFX5,RFX5 EXON Missense_S460N,Missense_S460N exm96637 1 151315287 [G/C] NM_000449,NM_001025603 RFX5,RFX5 EXON Missense_P409R,Missense_P409R exm96641 1 151315354 [T/C] NM_000449,NM_001025603 RFX5,RFX5 EXON Missense_T387A,Missense_T387A exm96647 1 151315474 [A/G] NM_000449,NM_001025603 RFX5,RFX5 EXON Missense_S347P,Missense_S347P exm96655 1 151315621 [T/C] NM_000449,NM_001025603 RFX5,RFX5 EXON Missense_G298S,Missense_G298S exm2231176 1 151315891 [T/C] NM_000449,NM_001025603 RFX5,RFX5 EXON Missense_R262Q,Missense_R262Q exm96669 1 151316324 [T/C] NM_000449,NM_001025603 RFX5,RFX5 EXON Missense_R197Q,Missense_R197Q exm96693 1 151318733 [T/C] NM_000449,NM_001025603 RFX5,RFX5 EXON Missense_A22T,Missense_A22T exm96697 1 151318757 [T/C] NM_000449,NM_001025603 RFX5,RFX5 EXON Missense_G14R,Missense_G14R exm96701 1 151337060 [A/G] NM_003944,NM_001258288,NM_001258289 SELENBP1,SELENBP1,SELENBP1 EXON Missense_R460C,Missense_R398C,Missense_R502C exm96711 1 151337690 [G/C] NM_003944,NM_001258288,NM_001258289 SELENBP1,SELENBP1,SELENBP1 EXON Missense_S371C,Missense_S309C,Missense_S413C exm96713 1 151337703 [T/C] NM_003944,NM_001258288,NM_001258289 SELENBP1,SELENBP1,SELENBP1 EXON Missense_E367K,Missense_E305K,Missense_E409K exm1714092 1 151338149 [T/C] NM_003944,NM_001258288,NM_001258289 SELENBP1,SELENBP1,SELENBP1 EXON Missense_D312N,Missense_D250N,Missense_D354N exm96724 1 151338753 [T/C] NM_003944,NM_001258288,NM_001258289 SELENBP1,SELENBP1,SELENBP1 EXON Missense_E281K,Missense_E219K,Missense_E323K exm96734 1 151339230 [T/C] NM_003944,NM_001258288,NM_001258289 SELENBP1,SELENBP1,SELENBP1 EXON Missense_R211Q,Missense_R149Q,Missense_R253Q exm96735 1 151339231 [A/G] NM_003944,NM_001258288,NM_001258289 SELENBP1,SELENBP1,SELENBP1 EXON Nonsense_R211X,Nonsense_R149X,Nonsense_R253X exm96737 1 151339278 [T/C] NM_003944,NM_001258288,NM_001258289 SELENBP1,SELENBP1,SELENBP1 EXON Missense_R195Q,Missense_R133Q,Missense_R237Q exm2249931 1 151339307 [T/C] NM_003944,NM_001258288,NM_001258289 SELENBP1,SELENBP1,SELENBP1 EXON Synonymous_P185P,Synonymous_P123P,Synonymous_P227P exm96740 1 151339348 [T/C] NM_003944,NM_001258288,NM_001258289 SELENBP1,SELENBP1,SELENBP1 EXON Missense_E172K,Missense_E110K,Missense_E214K exm96745 1 151340680 [C/G] NM_003944,NM_001258288,NM_001258289 SELENBP1,SELENBP1,SELENBP1 EXON Missense_G159A,Missense_G97A,Missense_G201A exm96751 1 151340762 [T/C] NM_003944,NM_001258288,NM_001258289 SELENBP1,SELENBP1,SELENBP1 EXON Missense_E132K,Missense_E70K,Missense_E174K exm96754 1 151341499 [T/C] NM_003944,NM_001258288,NM_001258289 SELENBP1,SELENBP1,SELENBP1 EXON Missense_R114Q,Silent,Missense_R156Q exm1714112 1 151372065 [T/C] NM_002796 PSMB4 EXON Missense_M1T exm96822 1 151374025 [T/C] NM_002796 PSMB4 EXON Missense_I234T exm96846 1 151377422 [A/C] NM_015100,NM_001194938,NM_207171,NM_145796,NM_001194937 POGZ,POGZ,POGZ,POGZ,POGZ EXON Missense_H1363Q,Missense_H1301Q,Missense_H1310Q,Missense_H1268Q,Missense_H1354Q exm96851 1 151377648 [A/G] NM_015100,NM_001194938,NM_207171,NM_145796,NM_001194937 POGZ,POGZ,POGZ,POGZ,POGZ EXON Missense_A1288V,Missense_A1226V,Missense_A1235V,Missense_A1193V,Missense_A1279V exm96859 1 151377952 [A/G] NM_015100,NM_001194938,NM_207171,NM_145796,NM_001194937 POGZ,POGZ,POGZ,POGZ,POGZ EXON Missense_P1187S,Missense_P1125S,Missense_P1134S,Missense_P1092S,Missense_P1178S exm96887 1 151378842 [A/G] NM_015100,NM_001194938,NM_207171,NM_145796,NM_001194937 POGZ,POGZ,POGZ,POGZ,POGZ EXON Missense_A890V,Missense_A828V,Missense_A837V,Missense_A795V,Missense_A881V exm96891 1 151379094 [T/C] NM_015100,NM_001194938,NM_207171,NM_145796,NM_001194937 POGZ,POGZ,POGZ,POGZ,POGZ EXON Missense_I853M,Missense_I791M,Missense_I800M,Missense_I758M,Missense_I844M exm96927 1 151396443 [T/C] NM_015100,NM_001194938,NM_207171,NM_145796,NM_001194937 POGZ,POGZ,POGZ,POGZ,POGZ EXON Missense_R502K,Missense_R440K,Missense_R449K,Missense_R407K,Missense_R493K exm96935 1 151397526 [T/C] NM_015100,NM_001194938,NM_207171,NM_145796,NM_001194937 POGZ,POGZ,POGZ,POGZ,POGZ EXON Missense_I364V,Missense_I302V,Missense_I311V,Missense_I269V,Missense_I355V exm96940 1 151400349 [T/C] NM_015100,NM_001194938,NM_207171,NM_145796,NM_001194937 POGZ,POGZ,POGZ,POGZ,POGZ EXON Missense_S343N,Missense_S281N,Missense_S290N,Missense_S248N,Missense_S334N exm96945 1 151400506 [A/G] NM_015100,NM_001194938,NM_207171,NM_145796,NM_001194937 POGZ,POGZ,POGZ,POGZ,POGZ EXON Missense_P291S,Silent,Missense_P238S,Missense_P196S,Silent exm96965 1 151403194 [T/C] NM_015100,NM_001194938,NM_207171,NM_145796,NM_001194937 POGZ,POGZ,POGZ,POGZ,POGZ EXON Missense_N136S,Missense_N83S,Missense_N83S,Silent,Missense_N136S exm96976 1 151414577 [A/G] NM_015100,NM_001194938,NM_207171,NM_145796,NM_001194937 POGZ,POGZ,POGZ,POGZ,POGZ EXON Missense_S35L,Missense_S35L,Missense_S35L,Missense_S35L,Missense_S35L exm96977 1 151414611 [T/C] NM_015100,NM_001194938,NM_207171,NM_145796,NM_001194937 POGZ,POGZ,POGZ,POGZ,POGZ EXON Missense_V24I,Missense_V24I,Missense_V24I,Missense_V24I,Missense_V24I exm2259806 1 151468060 [T/G] exm-rs1547832 1 151477193 [T/C] exm96981 1 151491026 [T/C] NM_020770 CGN EXON Missense_R11W exm96982 1 151491027 [A/G] NM_020770 CGN EXON Missense_R11Q exm96983 1 151491029 [A/G] NM_020770 CGN EXON Missense_G12S exm96989 1 151491101 [T/C] NM_020770 CGN EXON Missense_R36C exm97000 1 151491318 [T/G] NM_020770 CGN EXON Missense_V108G exm1714216 1 151491411 [T/C] NM_020770 CGN EXON Missense_A139V exm97012 1 151491581 [T/C] NM_020770 CGN EXON Missense_R196W exm97019 1 151491674 [T/C] NM_020770 CGN EXON Missense_R227W exm97021 1 151491680 [T/C] NM_020770 CGN EXON Missense_R229C exm97023 1 151491788 [T/C] NM_020770 CGN EXON Missense_R265C exm97027 1 151491836 [T/C] NM_020770 CGN EXON Missense_R281W exm97032 1 151492700 [T/C] NM_020770 CGN EXON Missense_V311A exm97036 1 151492912 [A/G] NM_020770 CGN EXON Missense_V333M exm1714233 1 151493096 [C/G] NM_020770 CGN EXON Missense_A357P exm97042 1 151493145 [A/G] NM_020770 CGN EXON Missense_R373Q exm97045 1 151495950 [A/G] NM_020770 CGN EXON Missense_R394Q exm97048 1 151496009 [A/C] NM_020770 CGN EXON Missense_K414Q exm2231183 1 151496012 [C/G] NM_020770 CGN EXON Missense_G415R exm97050 1 151496718 [T/C] NM_020770 CGN EXON Missense_R429C exm97057 1 151497202 [A/G] NM_020770 CGN EXON Missense_R485Q exm97069 1 151498143 [A/G] NM_020770 CGN EXON Missense_R547K exm97077 1 151499510 [A/G] NM_020770 CGN EXON Missense_E608G exm97078 1 151499539 [T/C] NM_020770 CGN EXON Nonsense_R618X exm97083 1 151499584 [T/G] NM_020770 CGN Silent exm97086 1 151501841 [C/G] NM_020770 CGN EXON Missense_Q638E exm97088 1 151501872 [A/G] NM_020770 CGN EXON Missense_R648Q exm2231184 1 151501901 [C/G] NM_020770 CGN EXON Missense_R658G exm97094 1 151501908 [A/G] NM_020770 CGN EXON Missense_R660Q exm97100 1 151501968 [A/G] NM_020770 CGN EXON Missense_E680G exm1714258 1 151502400 [A/G] NM_020770 CGN EXON Missense_E708K exm97106 1 151502427 [T/C] NM_020770 CGN EXON Missense_R717W exm97107 1 151502430 [T/C] NM_020770 CGN EXON Missense_R718W exm97114 1 151502487 [T/C] NM_020770 CGN EXON Missense_R737W exm97117 1 151502547 [G/C] NM_020770 CGN EXON Missense_E757Q exm97119 1 151502568 [T/C] NM_020770 CGN EXON Missense_R764W exm97121 1 151502589 [A/G] NM_020770 CGN EXON Missense_E771K exm97122 1 151502966 [G/C] NM_020770 CGN EXON Missense_A772G exm97123 1 151502978 [A/G] NM_020770 CGN EXON Missense_Q776R exm1714265 1 151503038 [A/G] NM_020770 CGN EXON Missense_R796Q exm97129 1 151503053 [A/G] NM_020770 CGN EXON Missense_R801H exm97130 1 151503071 [A/G] NM_020770 CGN EXON Missense_R807Q exm97139 1 151503208 [T/C] NM_020770 CGN EXON Nonsense_R853X exm97142 1 151504890 [A/G] NM_020770 CGN EXON Missense_G862R exm97145 1 151504956 [T/C] NM_020770 CGN EXON Missense_R884W exm97148 1 151505035 [A/G] NM_020770 CGN EXON Missense_R910Q exm97155 1 151506526 [A/G] NM_020770 CGN EXON Missense_A940T exm97161 1 151507531 [A/G] NM_020770 CGN EXON Missense_R973Q exm97176 1 151508290 [A/G] NM_020770 CGN EXON Missense_E1038G exm97181 1 151508720 [A/G] NM_020770 CGN EXON Missense_T1069A exm97182 1 151508741 [T/C] NM_020770 CGN EXON Nonsense_R1076X exm97191 1 151509266 [T/C] NM_020770 CGN EXON Nonsense_R1123X exm97196 1 151509682 [T/C] NM_020770 CGN EXON Missense_R1158C exm97198 1 151509694 [T/C] NM_020770 CGN EXON Missense_R1162C exm97199 1 151509719 [A/G] NM_020770 CGN EXON Missense_K1170R exm1714281 1 151509754 [A/G] NM_020770 CGN EXON Missense_S1182G exm97214 1 151512879 [G/C] NM_020127,NM_001126337 TUFT1,TUFT1 EXON Missense_V13L,Missense_V13L exm97215 1 151512895 [A/G] NM_020127,NM_001126337 TUFT1,TUFT1 EXON Missense_Q18R,Missense_Q18R exm97220 1 151534573 [A/G] NM_020127,NM_001126337 TUFT1,TUFT1 EXON Missense_V23M,Silent exm97222 1 151534633 [C/G] NM_020127,NM_001126337 TUFT1,TUFT1 EXON Missense_A43P,Silent exm97224 1 151535062 [T/C] NM_020127,NM_001126337 TUFT1,TUFT1 EXON Missense_A46V,Missense_A21V exm1714317 1 151535130 [A/G] NM_020127,NM_001126337 TUFT1,TUFT1 EXON Missense_E69K,Missense_E44K exm97228 1 151537025 [T/C] NM_020127,NM_001126337 TUFT1,TUFT1 EXON Missense_R117W,Missense_R92W exm97236 1 151538661 [A/G] NM_020127,NM_001126337 TUFT1,TUFT1 EXON Missense_G146D,Missense_G121D exm97240 1 151542140 [T/C] NM_020127,NM_001126337 TUFT1,TUFT1 EXON Missense_T163I,Missense_T138I exm97243 1 151542170 [C/G] NM_020127,NM_001126337 TUFT1,TUFT1 EXON Missense_R173T,Missense_R148T exm97244 1 151542176 [T/C] NM_020127,NM_001126337 TUFT1,TUFT1 EXON Missense_T175M,Missense_T150M exm97245 1 151542198 [T/G] NM_020127,NM_001126337 TUFT1,TUFT1 EXON Missense_K182N,Missense_K157N exm97247 1 151542215 [A/G] NM_020127,NM_001126337 TUFT1,TUFT1 EXON Missense_R188Q,Missense_R163Q exm97253 1 151546816 [T/C] NM_020127,NM_001126337 TUFT1,TUFT1 EXON Missense_V222A,Missense_V197A exm97254 1 151546855 [A/G] NM_020127,NM_001126337 TUFT1,TUFT1 EXON Missense_R235H,Missense_R210H exm97260 1 151551265 [A/G] NM_020127,NM_001126337 TUFT1,TUFT1 EXON Missense_K296R,Missense_K271R exm1714336 1 151552139 [A/C] NM_020127,NM_001126337 TUFT1,TUFT1 EXON Missense_K313N,Missense_K288N exm97268 1 151554137 [T/C] NM_020127,NM_001126337 TUFT1,TUFT1 EXON Missense_P376L,Missense_P351L exm97271 1 151554166 [T/C] NM_020127,NM_001126337 TUFT1,TUFT1 EXON Nonsense_R386X,Nonsense_R361X exm1714351 1 151633309 [A/G] NM_030918 SNX27 EXON Missense_M258V exm97290 1 151634663 [A/G] NM_030918 SNX27 EXON Missense_V275I exm97293 1 151638416 [T/C] NM_030918 SNX27 EXON Missense_A305V exm97295 1 151638469 [A/G] NM_030918 SNX27 EXON Missense_V323M exm97296 1 151638486 [T/C] NM_030918 SNX27 EXON Synonymous_F328F exm97300 1 151655838 [G/C] NM_030918 SNX27 EXON Missense_D386H exm97309 1 151665424 [T/G] NM_030918 SNX27 EXON Missense_R476L exm2249934 1 151669442 [T/C] NM_030918 SNX27 EXON Silent exm97349 1 151679660 [A/G] NM_007185,NM_001172649,NM_001172648 CELF3,CELF3,CELF3 EXON Missense_P295S,Silent,Missense_P248S exm97352 1 151679708 [T/C] NM_007185,NM_001172649,NM_001172648 CELF3,CELF3,CELF3 EXON Missense_V279I,Silent,Missense_V232I exm97365 1 151681524 [T/C] NM_007185,NM_001172649,NM_001172648 CELF3,CELF3,CELF3 EXON Missense_A146T,Missense_A146T,Missense_A99T exm97367 1 151681552 [A/G] NM_007185,NM_001172649,NM_001172648 CELF3,CELF3,CELF3 EXON Synonymous_G136G,Synonymous_G136G,Synonymous_G89G exm97386 1 151694626 [A/G] NM_001144956 RIIAD1 EXON Missense_S50N exm97397 1 151732552 [T/C] NM_031420 MRPL9 EXON Missense_M260V exm97404 1 151733293 [A/G] NM_031420 MRPL9 EXON Missense_T224M exm97407 1 151733327 [T/C] NM_031420 MRPL9 EXON Missense_I213V exm97408 1 151733335 [T/G] NM_031420 MRPL9 EXON Missense_E210A exm2231190 1 151734581 [T/C] NM_031420 MRPL9 EXON Synonymous_A162A exm97426 1 151734961 [T/C] NM_031420 MRPL9 EXON Missense_G109D exm97433 1 151735493 [T/C] NM_031420,NM_001134939 MRPL9,OAZ3 EXON Missense_E95K,Silent exm97437 1 151735576 [T/C] NM_031420,NM_001134939 MRPL9,OAZ3 EXON Missense_E67G,Silent exm97438 1 151735594 [T/A] NM_031420,NM_001134939 MRPL9,OAZ3 EXON Missense_K61M,Silent exm97443 1 151735913 [A/G] NM_031420,NM_001134939 MRPL9,OAZ3 EXON Missense_R15W,Silent exm97447 1 151739333 [T/C] NM_001134939,NM_016178 OAZ3,OAZ3 EXON Silent,Missense_R46W exm97451 1 151739679 [A/C] NM_001134939,NM_016178 OAZ3,OAZ3 EXON Missense_R25S,Missense_R70S exm1714412 1 151740560 [T/C] NM_001134939,NM_016178 OAZ3,OAZ3 EXON Missense_X66R,Missense_X111R exm97458 1 151740666 [T/C] NM_001134939,NM_016178 OAZ3,OAZ3 EXON Missense_L101P,Missense_L146P exm1714417 1 151742726 [A/C] NM_001134939,NM_016178 OAZ3,OAZ3 EXON Synonymous_R142R,Synonymous_R187R exm97475 1 151747558 [T/C] NM_006862,NM_001083963,NM_001083965,NM_001083964 TDRKH,TDRKH,TDRKH,TDRKH EXON Missense_D507N,Missense_D507N,Missense_D507N,Missense_D462N exm97482 1 151748021 [A/T] NM_006862,NM_001083963,NM_001083965,NM_001083964 TDRKH,TDRKH,TDRKH,TDRKH Silent,Silent,Silent,Silent exm97485 1 151748578 [A/G] NM_006862,NM_001083963,NM_001083965,NM_001083964 TDRKH,TDRKH,TDRKH,TDRKH EXON Missense_A404V,Missense_A404V,Missense_A404V,Missense_A359V exm97486 1 151748579 [A/C] NM_006862,NM_001083963,NM_001083965,NM_001083964 TDRKH,TDRKH,TDRKH,TDRKH EXON Missense_A404S,Missense_A404S,Missense_A404S,Missense_A359S exm97487 1 151748660 [T/C] NM_006862,NM_001083963,NM_001083965,NM_001083964 TDRKH,TDRKH,TDRKH,TDRKH EXON Missense_G377S,Missense_G377S,Missense_G377S,Missense_G332S exm97489 1 151748669 [A/G] NM_006862,NM_001083963,NM_001083965,NM_001083964 TDRKH,TDRKH,TDRKH,TDRKH EXON Missense_R374W,Missense_R374W,Missense_R374W,Missense_R329W exm97490 1 151748733 [G/C] NM_006862,NM_001083963,NM_001083965,NM_001083964 TDRKH,TDRKH,TDRKH,TDRKH EXON Missense_L352F,Missense_L352F,Missense_L352F,Missense_L307F exm97491 1 151748920 [T/G] NM_006862,NM_001083963,NM_001083965,NM_001083964 TDRKH,TDRKH,TDRKH,TDRKH EXON Missense_S347R,Missense_S347R,Missense_S347R,Missense_S302R exm97493 1 151748992 [T/C] NM_006862,NM_001083963,NM_001083965,NM_001083964 TDRKH,TDRKH,TDRKH,TDRKH EXON Missense_I323V,Missense_I323V,Missense_I323V,Missense_I278V exm97499 1 151751266 [T/C] NM_006862,NM_001083963,NM_001083965,NM_001083964 TDRKH,TDRKH,TDRKH,TDRKH EXON Missense_D260N,Missense_D260N,Missense_D260N,Missense_D215N exm97504 1 151751403 [T/C] NM_006862,NM_001083963,NM_001083965,NM_001083964 TDRKH,TDRKH,TDRKH,TDRKH EXON Missense_R214H,Missense_R214H,Missense_R214H,Missense_R169H exm97507 1 151751707 [T/C] NM_006862,NM_001083963,NM_001083965,NM_001083964 TDRKH,TDRKH,TDRKH,TDRKH EXON Missense_E145K,Missense_E145K,Missense_E145K,Silent exm1714442 1 151755395 [T/C] NM_006862,NM_001083963,NM_001083965,NM_001083964 TDRKH,TDRKH,TDRKH,TDRKH EXON Missense_R35H,Missense_R35H,Missense_R35H,Missense_R35H exm97540 1 151773851 [A/T] NM_001004432 LINGO4 EXON Missense_T444S exm97547 1 151773935 [A/G] NM_001004432 LINGO4 EXON Nonsense_R416X exm2273690 1 151774034 [C/G] NM_001004432 LINGO4 EXON Missense_P383A exm97554 1 151774063 [T/C] NM_001004432 LINGO4 EXON Missense_R373H exm97556 1 151774070 [A/G] NM_001004432 LINGO4 EXON Missense_R371W exm97568 1 151774300 [T/C] NM_001004432 LINGO4 EXON Missense_R294Q exm97569 1 151774318 [T/A] NM_001004432 LINGO4 EXON Missense_I288N exm97570 1 151774330 [A/G] NM_001004432 LINGO4 EXON Missense_S284F exm97578 1 151774502 [T/G] NM_001004432 LINGO4 EXON Missense_L227M exm97580 1 151774507 [T/C] NM_001004432 LINGO4 EXON Missense_R225Q exm97585 1 151774616 [A/G] NM_001004432 LINGO4 EXON Missense_R189C exm2275478 1 151774693 [A/C] NM_001004432 LINGO4 EXON Missense_V163G exm97588 1 151774712 [T/C] NM_001004432 LINGO4 EXON Missense_S157G exm1714453 1 151774762 [T/C] NM_001004432 LINGO4 EXON Missense_R140H exm97589 1 151774795 [T/G] NM_001004432 LINGO4 EXON Nonsense_S129X exm97593 1 151774888 [T/G] NM_001004432 LINGO4 EXON Missense_T98N exm2273691 1 151774944 [T/C] NM_001004432 LINGO4 EXON Missense_M79I exm97613 1 151780028 [T/C] NM_001001523,NM_005060 RORC,RORC EXON Missense_V472M,Missense_V493M exm97614 1 151780099 [T/C] NM_001001523,NM_005060 RORC,RORC EXON Missense_K448R,Missense_K469R exm97615 1 151783805 [C/G] NM_001001523,NM_005060 RORC,RORC EXON Missense_A443G,Missense_A464G exm97618 1 151783863 [T/C] NM_001001523,NM_005060 RORC,RORC EXON Missense_N424D,Missense_N445D exm97620 1 151783892 [T/C] NM_001001523,NM_005060 RORC,RORC EXON Missense_E414G,Missense_E435G exm97621 1 151785424 [T/G] NM_001001523,NM_005060 RORC,RORC EXON Synonymous_A407A,Synonymous_A428A exm1714460 1 151785771 [T/C] NM_001001523,NM_005060 RORC,RORC EXON Missense_N352S,Missense_N373S exm97626 1 151785819 [A/G] NM_001001523,NM_005060 RORC,RORC EXON Missense_A336V,Missense_A357V exm97642 1 151787451 [T/C] NM_001001523,NM_005060 RORC,RORC EXON Missense_S229N,Missense_S250N exm97657 1 151789185 [A/G] NM_001001523,NM_005060 RORC,RORC EXON Missense_H64Y,Missense_H85Y exm97673 1 151804213 [A/G] NM_005060 RORC EXON Nonsense_R10X exm97690 1 151820298 [G/C] NM_182578 THEM5 EXON Missense_L206V exm97692 1 151820304 [T/C] NM_182578 THEM5 EXON Missense_V204I exm97693 1 151820324 [T/C] NM_182578 THEM5 EXON Missense_D197G exm97694 1 151820731 [T/C] NM_182578 THEM5 EXON Missense_E168K exm97700 1 151824781 [T/C] NM_182578 THEM5 EXON Missense_D93G exm97705 1 151824895 [T/G] NM_182578 THEM5 EXON Missense_Y55S exm97708 1 151825920 [A/G] NM_182578 THEM5 EXON Missense_M41T exm97720 1 151849599 [A/G] NM_053055 THEM4 EXON Missense_P187L exm97733 1 151861842 [G/C] NM_053055 THEM4 EXON Missense_K98N exm97739 1 151867528 [T/C] NM_053055 THEM4 EXON Missense_R81H exm97750 1 151867651 [T/C] NM_053055 THEM4 EXON Missense_E40G exm97751 1 151867657 [G/C] NM_053055 THEM4 EXON Missense_S38C exm-rs10788819 1 151895093 [T/C] exm97756 1 151955753 [G/C] NM_002966 S100A10 EXON Missense_D60E exm97766 1 151958654 [T/C] NM_002966 S100A10 EXON Missense_K18R exm97779 1 152005257 [T/G] NM_005620 S100A11 EXON Missense_L67M exm97782 1 152006171 [T/C] NM_005620 S100A11 EXON Missense_T37A exm97790 1 152006266 [A/G] NM_005620 S100A11 EXON Missense_S5F exm97792 1 152009387 [A/G] NM_005620 S100A11 Silent exm-rs3124314 1 152037515 [T/C] exm97798 1 152057472 [A/G] NM_001008536 TCHHL1 EXON Nonsense_Q896X exm97809 1 152057793 [A/G] NM_001008536 TCHHL1 EXON Missense_C789R exm1714541 1 152057852 [T/C] NM_001008536 TCHHL1 EXON Missense_H769R exm97822 1 152058182 [T/G] NM_001008536 TCHHL1 EXON Missense_T659K exm97823 1 152058192 [A/G] NM_001008536 TCHHL1 EXON Nonsense_Q656X exm97826 1 152058269 [T/C] NM_001008536 TCHHL1 EXON Missense_R630K exm97834 1 152058563 [T/C] NM_001008536 TCHHL1 EXON Missense_G532E exm1714549 1 152058590 [T/G] NM_001008536 TCHHL1 EXON Missense_P523Q exm97839 1 152058767 [A/G] NM_001008536 TCHHL1 EXON Missense_V464A exm97856 1 152059046 [T/G] NM_001008536 TCHHL1 EXON Missense_D371A exm97861 1 152059278 [A/G] NM_001008536 TCHHL1 EXON Nonsense_Q294X exm97865 1 152059319 [A/G] NM_001008536 TCHHL1 EXON Missense_T280I exm97866 1 152059329 [T/C] NM_001008536 TCHHL1 EXON Missense_E277K exm97869 1 152059461 [T/G] NM_001008536 TCHHL1 EXON Missense_Q233K exm97876 1 152059580 [C/G] NM_001008536 TCHHL1 EXON Missense_A193G exm97879 1 152059659 [A/T] NM_001008536 TCHHL1 EXON Missense_N167Y exm97886 1 152059779 [A/G] NM_001008536 TCHHL1 EXON Missense_P127S exm97895 1 152060492 [T/C] NM_001008536 TCHHL1 EXON Missense_D43G exm97896 1 152060495 [T/C] NM_001008536 TCHHL1 EXON Missense_G42E exm-rs17646946 1 152062767 [A/G] exm97908 1 152079989 [T/G] NM_007113 TCHH EXON Missense_K1902Q exm97911 1 152080033 [C/G] NM_007113 TCHH EXON Missense_R1887P exm97913 1 152080066 [T/C] NM_007113 TCHH EXON Missense_R1876Q exm97914 1 152080105 [T/G] NM_007113 TCHH EXON Missense_E1863A exm97917 1 152080129 [T/G] NM_007113 TCHH EXON Missense_E1855A exm97920 1 152080173 [G/C] NM_007113 TCHH EXON Missense_E1840D exm97934 1 152080426 [C/G] NM_007113 TCHH EXON Missense_R1756P exm97940 1 152080512 [A/C] NM_007113 TCHH EXON Missense_E1727D exm97945 1 152080550 [T/G] NM_007113 TCHH EXON Missense_Q1715K exm97954 1 152080604 [C/G] NM_007113 TCHH EXON Missense_E1697Q exm97959 1 152080820 [C/G] NM_007113 TCHH EXON Missense_E1625Q exm1714575 1 152081071 [T/C] NM_007113 TCHH EXON Missense_R1541H exm97987 1 152081108 [A/G] NM_007113 TCHH EXON Missense_R1529W exm97989 1 152081116 [C/G] NM_007113 TCHH EXON Missense_R1526P exm97990 1 152081138 [T/C] NM_007113 TCHH EXON Missense_E1519K exm97997 1 152081201 [T/C] NM_007113 TCHH EXON Missense_E1498K exm98022 1 152081543 [T/G] NM_007113 TCHH EXON Missense_R1384S exm98023 1 152081549 [A/G] NM_007113 TCHH EXON Missense_R1382W exm98028 1 152081623 [T/C] NM_007113 TCHH EXON Missense_E1357G exm98036 1 152081701 [C/G] NM_007113 TCHH EXON Missense_R1331P exm98042 1 152081825 [C/G] NM_007113 TCHH EXON Missense_D1290H exm98048 1 152081921 [C/G] NM_007113 TCHH EXON Missense_L1258V exm98052 1 152082068 [T/C] NM_007113 TCHH EXON Missense_K1209E exm2275479 1 152082095 [A/G] NM_007113 TCHH EXON Missense_R1200W exm2276995 1 152082109 [A/C] NM_007113 TCHH EXON Missense_R1195L exm2249936 1 152082606 [T/C] NM_007113 TCHH EXON Synonymous_E1029E exm98116 1 152082761 [A/G] NM_007113 TCHH EXON Missense_P978S exm98126 1 152082957 [G/C] NM_007113 TCHH EXON Missense_E912D exm98145 1 152083235 [A/G] NM_007113 TCHH EXON Missense_R820W exm98147 1 152083247 [T/C] NM_007113 TCHH EXON Missense_E816K exm98149 1 152083325 [A/T] NM_007113 TCHH EXON Missense_L790M exm98151 1 152083372 [T/C] NM_007113 TCHH EXON Missense_E774G exm98156 1 152083457 [C/G] NM_007113 TCHH EXON Missense_L746V exm98164 1 152083612 [C/G] NM_007113 TCHH EXON Missense_R694P exm98167 1 152083641 [G/C] NM_007113 TCHH EXON Missense_E684D exm98183 1 152083816 [T/C] NM_007113 TCHH EXON Missense_E626G exm98204 1 152084080 [A/G] NM_007113 TCHH EXON Missense_L538P exm98269 1 152084922 [T/G] NM_007113 TCHH EXON Missense_E257D exm98271 1 152084950 [T/C] NM_007113 TCHH EXON Missense_K248R exm98272 1 152084984 [C/G] NM_007113 TCHH EXON Missense_V237L exm2231212 1 152085029 [T/C] NM_007113 TCHH EXON Missense_G222S exm2231213 1 152085034 [G/C] NM_007113 TCHH EXON Missense_R220T exm1714607 1 152085253 [T/G] NM_007113 TCHH EXON Missense_E147A exm98286 1 152085307 [A/G] NM_007113 TCHH EXON Missense_L129P exm98293 1 152085505 [A/C] NM_007113 TCHH EXON Missense_L63R exm98295 1 152086420 [T/C] NM_007113 TCHH EXON Missense_R46Q exm98310 1 152127348 [A/G] NM_001122965 RPTN EXON Nonsense_R743X exm98318 1 152127455 [T/C] NM_001122965 RPTN EXON Missense_E707G exm98321 1 152127663 [A/G] NM_001122965 RPTN EXON Missense_S638P exm98323 1 152127777 [A/C] NM_001122965 RPTN EXON Missense_G600W exm98329 1 152127961 [T/C] NM_001122965 RPTN EXON Missense_M538I exm98335 1 152128121 [A/G] NM_001122965 RPTN EXON Missense_S485F exm98338 1 152128139 [T/G] NM_001122965 RPTN EXON Missense_D479A exm2231219 1 152128178 [A/G] NM_001122965 RPTN EXON Missense_T466I exm2231220 1 152128182 [T/G] NM_001122965 RPTN EXON Missense_Q465K exm2231221 1 152128208 [T/C] NM_001122965 RPTN EXON Missense_R456K exm1714626 1 152128215 [T/G] NM_001122965 RPTN EXON Missense_T454P exm1714630 1 152128346 [T/C] NM_001122965 RPTN EXON Missense_G410D exm98357 1 152128401 [T/C] NM_001122965 RPTN EXON Missense_G392S exm98360 1 152128422 [C/G] NM_001122965 RPTN EXON Missense_Q385E exm1714631 1 152128563 [A/C] NM_001122965 RPTN EXON Missense_G338C exm98371 1 152128617 [T/C] NM_001122965 RPTN EXON Missense_S320G exm98377 1 152128689 [T/C] NM_001122965 RPTN EXON Missense_G296S exm98382 1 152128790 [T/G] NM_001122965 RPTN EXON Missense_T262K exm98385 1 152128886 [T/C] NM_001122965 RPTN EXON Missense_R230Q exm98389 1 152128983 [A/C] NM_001122965 RPTN EXON Nonsense_E198X exm98395 1 152129087 [T/C] NM_001122965 RPTN EXON Missense_K163R exm98396 1 152129094 [A/G] NM_001122965 RPTN EXON Missense_S161P exm98411 1 152129260 [A/C] NM_001122965 RPTN EXON Missense_Q105H exm98416 1 152129381 [T/C] NM_001122965 RPTN EXON Missense_R65Q exm98417 1 152129405 [T/A] NM_001122965 RPTN EXON Missense_I57N exm98418 1 152129425 [T/G] NM_001122965 RPTN EXON Missense_D50E exm2264904 1 152141674 [A/G] exm98431 1 152185628 [T/G] NM_001009931 HRNR EXON Nonsense_S2826X exm98434 1 152185641 [A/C] NM_001009931 HRNR EXON Nonsense_G2822X exm98438 1 152185646 [A/T] NM_001009931 HRNR EXON Missense_D2820V exm98439 1 152185649 [T/C] NM_001009931 HRNR EXON Missense_H2819R exm98795 1 152191007 [T/C] NM_001009931 HRNR EXON Nonsense_W1033X exm98797 1 152191022 [T/C] NM_001009931 HRNR EXON Missense_R1028K exm98828 1 152191166 [T/G] NM_001009931 HRNR EXON Missense_S980Y exm98899 1 152191473 [A/C] NM_001009931 HRNR EXON Missense_S878A exm98903 1 152191484 [T/G] NM_001009931 HRNR EXON Missense_S874Y exm98905 1 152191502 [C/G] NM_001009931 HRNR EXON Missense_G868A exm1714743 1 152191526 [G/C] NM_001009931 HRNR EXON Missense_S860T exm1714749 1 152191577 [T/C] NM_001009931 HRNR EXON Missense_R843Q exm98921 1 152191578 [A/G] NM_001009931 HRNR EXON Nonsense_R843X exm98923 1 152191594 [A/G] NM_001009931 HRNR EXON Synonymous_H837H exm1714751 1 152191637 [G/C] NM_001009931 HRNR EXON Missense_G823A exm98933 1 152191640 [T/G] NM_001009931 HRNR EXON Missense_S822Y exm98934 1 152191644 [T/C] NM_001009931 HRNR EXON Missense_E821K exm98938 1 152191658 [A/C] NM_001009931 HRNR EXON Missense_G816V exm98944 1 152191681 [G/C] NM_001009931 HRNR EXON Missense_E808D exm98946 1 152191696 [C/G] NM_001009931 HRNR EXON Missense_S803R exm98947 1 152191698 [T/C] NM_001009931 HRNR EXON Missense_S803G exm98953 1 152191733 [T/G] NM_001009931 HRNR EXON Missense_H791P exm1714757 1 152191809 [T/C] NM_001009931 HRNR EXON Missense_G766S exm98965 1 152191817 [A/G] NM_001009931 HRNR EXON Missense_S763L exm98977 1 152191916 [T/C] NM_001009931 HRNR EXON Missense_G730D exm98979 1 152191932 [T/C] NM_001009931 HRNR EXON Missense_G725S exm1714760 1 152191956 [T/C] NM_001009931 HRNR EXON Missense_G717R exm98985 1 152191992 [T/A] NM_001009931 HRNR EXON Missense_S705T exm98986 1 152192007 [T/C] NM_001009931 HRNR EXON Missense_G700S exm98989 1 152192025 [C/G] NM_001009931 HRNR EXON Missense_V694L exm98994 1 152192067 [A/G] NM_001009931 HRNR EXON Missense_S680P exm99049 1 152192456 [T/G] NM_001009931 HRNR EXON Missense_S550Y exm99052 1 152192466 [A/G] NM_001009931 HRNR EXON Nonsense_R547X exm99054 1 152192471 [T/C] NM_001009931 HRNR EXON Missense_R545H exm99064 1 152192549 [T/G] NM_001009931 HRNR EXON Missense_Q519P exm99069 1 152192588 [T/C] NM_001009931 HRNR EXON Missense_R506Q exm99079 1 152192687 [T/C] NM_001009931 HRNR EXON Missense_E473G exm99081 1 152192700 [T/C] NM_001009931 HRNR EXON Missense_E469K exm99085 1 152192717 [T/G] NM_001009931 HRNR EXON Missense_S463Y exm99091 1 152192805 [G/C] NM_001009931 HRNR EXON Missense_G434R exm99101 1 152192868 [A/G] NM_001009931 HRNR EXON Missense_R413C exm99105 1 152192882 [T/C] NM_001009931 HRNR EXON Missense_R408H exm99108 1 152192904 [T/C] NM_001009931 HRNR EXON Missense_G401S exm99110 1 152192927 [G/C] NM_001009931 HRNR EXON Missense_S393T exm99112 1 152192955 [C/G] NM_001009931 HRNR EXON Missense_A384P exm99116 1 152192978 [T/C] NM_001009931 HRNR EXON Missense_Q376R exm99138 1 152193149 [T/G] NM_001009931 HRNR EXON Missense_S319Y exm99139 1 152193150 [T/A] NM_001009931 HRNR EXON Missense_S319T exm99142 1 152193162 [T/C] NM_001009931 HRNR EXON Missense_G315S exm1714789 1 152193387 [A/G] NM_001009931 HRNR EXON Nonsense_Q240X exm99175 1 152193424 [C/G] NM_001009931 HRNR EXON Missense_Q227H exm99177 1 152193435 [T/C] NM_001009931 HRNR EXON Missense_G224S exm1714792 1 152193481 [A/G] NM_001009931 HRNR EXON Synonymous_H208H exm2273692 1 152193500 [A/G] NM_001009931 HRNR EXON Missense_S202F exm99183 1 152193528 [T/C] NM_001009931 HRNR EXON Missense_G193S exm99188 1 152193552 [T/C] NM_001009931 HRNR EXON Missense_D185N exm99192 1 152193623 [A/C] NM_001009931 HRNR EXON Missense_F161C exm99198 1 152193711 [A/C] NM_001009931 HRNR EXON Missense_W132G exm99201 1 152193741 [A/G] NM_001009931 HRNR EXON Missense_R122W exm99206 1 152193851 [T/C] NM_001009931 HRNR EXON Missense_R85H exm99209 1 152193876 [T/G] NM_001009931 HRNR EXON Missense_M77L exm2249939 1 152275177 [T/C] NM_002016 FLG EXON Synonymous_X4062X exm99235 1 152275273 [T/G] NM_002016 FLG EXON Missense_T4030K exm99236 1 152275276 [A/G] NM_002016 FLG EXON Missense_A4029V exm1714812 1 152275298 [A/T] NM_002016 FLG EXON Nonsense_K4022X exm99243 1 152275403 [T/C] NM_002016 FLG EXON Missense_G3987S exm99247 1 152275421 [T/C] NM_002016 FLG EXON Missense_S3981G exm99248 1 152275453 [A/G] NM_002016 FLG EXON Missense_S3970L exm1714814 1 152275523 [A/G] NM_002016 FLG EXON Missense_R3947C exm99253 1 152275540 [T/C] NM_002016 FLG EXON Missense_H3941R exm99256 1 152275559 [A/G] NM_002016 FLG EXON Missense_S3935P exm99261 1 152275591 [T/G] NM_002016 FLG EXON Missense_T3924N exm99265 1 152275640 [T/C] NM_002016 FLG EXON Missense_D3908N exm99271 1 152275688 [A/G] NM_002016 FLG EXON Missense_R3892W exm99272 1 152275701 [A/C] NM_002016 FLG EXON Missense_H3887Q exm99275 1 152275740 [G/C] NM_002016 FLG EXON Missense_E3874D exm99279 1 152275790 [A/G] NM_002016 FLG EXON Missense_R3858C exm99280 1 152275795 [T/C] NM_002016 FLG EXON Missense_S3856N exm99286 1 152275877 [A/G] NM_002016 FLG EXON Missense_R3829C exm99327 1 152276159 [C/G] NM_002016 FLG EXON Missense_Q3735E exm99328 1 152276164 [A/C] NM_002016 FLG EXON Missense_G3733V exm2249940 1 152276742 [A/G] NM_002016 FLG EXON Synonymous_S3540S exm99417 1 152276858 [A/G] NM_002016 FLG EXON Missense_S3502P exm99526 1 152277614 [T/C] NM_002016 FLG EXON Missense_G3250S exm99687 1 152279658 [T/G] NM_002016 FLG EXON Missense_S2568R exm99688 1 152279661 [A/C] NM_002016 FLG EXON Missense_F2567L exm99697 1 152279707 [C/G] NM_002016 FLG EXON Missense_G2552A exm99719 1 152279809 [T/C] NM_002016 FLG EXON Missense_R2518H exm99826 1 152280710 [T/C] NM_002016 FLG EXON Missense_D2218N exm99834 1 152280739 [A/G] NM_002016 FLG EXON Missense_S2208L exm99835 1 152280758 [T/C] NM_002016 FLG EXON Missense_G2202S exm99839 1 152280782 [A/G] NM_002016 FLG EXON Missense_Y2194H exm99873 1 152281027 [T/C] NM_002016 FLG EXON Missense_G2112E exm99878 1 152281058 [A/G] NM_002016 FLG EXON Missense_S2102P exm99914 1 152281331 [T/G] NM_002016 FLG EXON Missense_L2011I exm99917 1 152281373 [T/C] NM_002016 FLG EXON Missense_A1997T exm99939 1 152281517 [C/G] NM_002016 FLG EXON Missense_Q1949E exm99951 1 152281624 [T/C] NM_002016 FLG EXON Missense_N1913S exm99970 1 152281724 [T/G] NM_002016 FLG EXON Missense_H1880N exm99971 1 152281730 [A/T] NM_002016 FLG EXON Missense_S1878T exm99973 1 152281745 [T/G] NM_002016 FLG EXON Missense_Q1873K exm99984 1 152281796 [A/G] NM_002016 FLG EXON Missense_R1856C exm99988 1 152281856 [A/C] NM_002016 FLG EXON Missense_S1836A exm99998 1 152281914 [G/C] NM_002016 FLG EXON Missense_H1816Q exm100008 1 152281985 [A/G] NM_002016 FLG EXON Missense_R1793C exm100036 1 152282228 [A/G] NM_002016 FLG EXON Nonsense_R1712X exm100038 1 152282240 [T/C] NM_002016 FLG EXON Missense_D1708N exm100042 1 152282267 [A/G] NM_002016 FLG EXON Missense_R1699C exm100056 1 152282426 [A/G] NM_002016 FLG EXON Missense_S1646P exm100060 1 152282461 [G/C] NM_002016 FLG EXON Missense_R1634T exm100065 1 152282495 [A/G] NM_002016 FLG EXON Missense_R1623W exm100068 1 152282533 [T/C] NM_002016 FLG EXON Missense_R1610Q exm100072 1 152282596 [T/C] NM_002016 FLG EXON Missense_R1589H exm100073 1 152282597 [A/G] NM_002016 FLG EXON Missense_R1589C exm100079 1 152282635 [T/A] NM_002016 FLG EXON Missense_V1576E exm100080 1 152282657 [T/C] NM_002016 FLG EXON Missense_G1569S exm100084 1 152282684 [A/G] NM_002016 FLG EXON Missense_R1560C exm1714985 1 152282818 [T/G] NM_002016 FLG EXON Nonsense_S1515X exm100110 1 152282937 [T/G] NM_002016 FLG EXON Missense_N1475K exm1714988 1 152282941 [T/C] NM_002016 FLG EXON Missense_R1474Q exm100111 1 152282942 [A/G] NM_002016 FLG EXON Nonsense_R1474X exm100156 1 152283320 [A/G] NM_002016 FLG EXON Nonsense_Q1348X exm100160 1 152283347 [T/G] NM_002016 FLG EXON Missense_H1339N exm100173 1 152283470 [A/C] NM_002016 FLG EXON Missense_S1298A exm100174 1 152283472 [T/G] NM_002016 FLG EXON Missense_S1297Y exm100184 1 152283533 [C/G] NM_002016 FLG EXON Missense_E1277Q exm100192 1 152283604 [T/C] NM_002016 FLG EXON Missense_G1253E exm100193 1 152283605 [A/C] NM_002016 FLG EXON Nonsense_G1253X exm100200 1 152283646 [T/G] NM_002016 FLG EXON Missense_E1239A exm100201 1 152283655 [T/C] NM_002016 FLG EXON Missense_R1236H exm100202 1 152283656 [A/G] NM_002016 FLG EXON Missense_R1236C exm100204 1 152283670 [A/C] NM_002016 FLG EXON Missense_R1231M exm100213 1 152283742 [T/G] NM_002016 FLG EXON Missense_S1207Y exm100269 1 152284213 [A/G] NM_002016 FLG EXON Missense_P1050L exm100326 1 152284628 [A/G] NM_002016 FLG EXON Missense_R912C exm100358 1 152284886 [A/G] NM_002016 FLG EXON Nonsense_R826X exm100359 1 152284903 [T/G] NM_002016 FLG EXON Missense_S820Y exm100365 1 152284948 [A/G] NM_002016 FLG EXON Missense_S805F exm100366 1 152284958 [T/G] NM_002016 FLG EXON Missense_Q802K exm100373 1 152285002 [A/G] NM_002016 FLG EXON Missense_S787F exm100406 1 152285290 [T/C] NM_002016 FLG EXON Missense_G691E exm100424 1 152285534 [T/C] NM_002016 FLG EXON Missense_G610R exm100429 1 152285551 [T/C] NM_002016 FLG EXON Missense_G604D exm100481 1 152285930 [A/G] NM_002016 FLG EXON Missense_P478S exm100492 1 152286040 [T/C] NM_002016 FLG EXON Missense_G441E exm100496 1 152286069 [T/G] NM_002016 FLG EXON Missense_N431K exm100503 1 152286127 [T/C] NM_002016 FLG EXON Missense_R412H exm100505 1 152286145 [A/G] NM_002016 FLG EXON Missense_S406L exm100507 1 152286157 [T/C] NM_002016 FLG EXON Missense_R402H exm100519 1 152286325 [T/C] NM_002016 FLG EXON Missense_H346R exm100526 1 152286388 [A/G] NM_002016 FLG EXON Missense_A325V exm100531 1 152286468 [T/G] NM_002016 FLG EXON Missense_S298R exm100532 1 152286487 [T/C] NM_002016 FLG EXON Missense_R292H exm100541 1 152286592 [T/A] NM_002016 FLG EXON Missense_Y257F exm100542 1 152286593 [A/C] NM_002016 FLG EXON Missense_Y257D exm1715054 1 152286638 [T/C] NM_002016 FLG EXON Missense_E242K exm100554 1 152286889 [T/C] NM_002016 FLG EXON Missense_K158R exm100558 1 152286967 [T/C] NM_002016 FLG EXON Missense_N132S exm100564 1 152287078 [A/G] NM_002016 FLG EXON Missense_P95L exm100570 1 152287184 [A/G] NM_002016 FLG EXON Missense_H60Y exm100573 1 152287213 [T/C] NM_002016 FLG EXON Missense_D50G exm100578 1 152287839 [A/C] NM_002016 FLG EXON Nonsense_E32X exm100580 1 152287857 [T/C] NM_002016 FLG EXON Missense_D26N exm-rs3126085 1 152300817 [A/G] exm-rs3120665 1 152316590 [A/G] exm100586 1 152323087 [G/C] NM_001014342 FLG2 EXON Missense_X2392S exm100588 1 152323132 [T/G] NM_001014342 FLG2 EXON Nonsense_S2377X exm100599 1 152323427 [T/C] NM_001014342 FLG2 EXON Missense_A2279T exm100601 1 152323433 [T/C] NM_001014342 FLG2 EXON Missense_G2277S exm100605 1 152323444 [T/C] NM_001014342 FLG2 EXON Missense_G2273E exm100612 1 152323640 [A/G] NM_001014342 FLG2 EXON Missense_H2208Y exm100616 1 152323704 [A/C] NM_001014342 FLG2 EXON Missense_S2186R exm100620 1 152323807 [A/C] NM_001014342 FLG2 EXON Missense_G2152V exm100621 1 152323822 [A/G] NM_001014342 FLG2 EXON Missense_I2147T exm100625 1 152323838 [T/C] NM_001014342 FLG2 EXON Missense_G2142R exm100630 1 152324002 [T/C] NM_001014342 FLG2 EXON Missense_H2087R exm100633 1 152324014 [C/G] NM_001014342 FLG2 EXON Missense_A2083G exm100655 1 152324279 [T/C] NM_001014342 FLG2 EXON Missense_G1995R exm100661 1 152324316 [T/G] NM_001014342 FLG2 EXON Missense_H1982Q exm100663 1 152324333 [T/C] NM_001014342 FLG2 EXON Missense_G1977S exm100665 1 152324348 [T/A] NM_001014342 FLG2 EXON Missense_S1972T exm100667 1 152324374 [A/C] NM_001014342 FLG2 EXON Missense_G1963V exm100669 1 152324432 [T/C] NM_001014342 FLG2 EXON Missense_G1944R exm100676 1 152324559 [G/C] NM_001014342 FLG2 EXON Missense_H1901Q exm100678 1 152324599 [A/G] NM_001014342 FLG2 EXON Missense_V1888A exm100683 1 152324636 [T/C] NM_001014342 FLG2 EXON Missense_R1876G exm100684 1 152324654 [A/G] NM_001014342 FLG2 EXON Missense_S1870P exm100687 1 152324681 [A/C] NM_001014342 FLG2 EXON Missense_G1861C exm100699 1 152324981 [A/G] NM_001014342 FLG2 EXON Missense_S1761P exm100700 1 152324987 [A/G] NM_001014342 FLG2 EXON Missense_S1759P exm100705 1 152325140 [A/G] NM_001014342 FLG2 EXON Missense_Y1708H exm100716 1 152325368 [A/G] NM_001014342 FLG2 EXON Missense_H1632Y exm100718 1 152325455 [T/C] NM_001014342 FLG2 EXON Missense_G1603R exm100726 1 152325546 [C/G] NM_001014342 FLG2 EXON Missense_Q1572H exm100736 1 152325721 [A/G] NM_001014342 FLG2 EXON Missense_S1514L exm100751 1 152325959 [T/C] NM_001014342 FLG2 EXON Missense_G1435R exm100772 1 152326339 [T/C] NM_001014342 FLG2 EXON Missense_R1308H exm100774 1 152326442 [T/C] NM_001014342 FLG2 EXON Missense_E1274K exm100789 1 152326715 [A/C] NM_001014342 FLG2 EXON Missense_V1183L exm100791 1 152326765 [G/C] NM_001014342 FLG2 EXON Missense_C1166S exm100792 1 152326769 [A/C] NM_001014342 FLG2 EXON Missense_G1165C exm100796 1 152326843 [T/C] NM_001014342 FLG2 EXON Missense_G1140D exm100802 1 152327069 [T/C] NM_001014342 FLG2 EXON Missense_G1065R exm2249946 1 152327151 [A/G] NM_001014342 FLG2 EXON Synonymous_G1037G exm100813 1 152327377 [T/C] NM_001014342 FLG2 EXON Missense_G962D exm100815 1 152327404 [A/G] NM_001014342 FLG2 EXON Missense_S953L exm2231286 1 152327546 [T/G] NM_001014342 FLG2 EXON Missense_Q906K exm100876 1 152328095 [T/C] NM_001014342 FLG2 EXON Missense_E723K exm100882 1 152328190 [A/G] NM_001014342 FLG2 EXON Missense_S691F exm1715119 1 152328835 [A/G] NM_001014342 FLG2 EXON Missense_T476I exm100925 1 152328935 [T/C] NM_001014342 FLG2 EXON Missense_E443K exm1715121 1 152328956 [A/T] NM_001014342 FLG2 EXON Missense_L436M exm100927 1 152329055 [A/G] NM_001014342 FLG2 EXON Missense_R403C exm100933 1 152329256 [A/C] NM_001014342 FLG2 EXON Missense_S336A exm100936 1 152329307 [T/A] NM_001014342 FLG2 EXON Missense_S319T exm100938 1 152329369 [G/C] NM_001014342 FLG2 EXON Missense_C298S exm100939 1 152329370 [A/G] NM_001014342 FLG2 EXON Missense_C298R exm100941 1 152329435 [T/C] NM_001014342 FLG2 EXON Missense_R276Q exm100944 1 152329460 [A/C] NM_001014342 FLG2 EXON Missense_S268A exm100946 1 152329529 [T/C] NM_001014342 FLG2 EXON Missense_E245K exm100947 1 152329530 [G/C] NM_001014342 FLG2 EXON Missense_L244F exm100948 1 152329534 [T/C] NM_001014342 FLG2 EXON Missense_G243E exm1715126 1 152329644 [T/G] NM_001014342 FLG2 EXON Missense_E206D exm100957 1 152329758 [T/A] NM_001014342 FLG2 EXON Missense_L168F exm100959 1 152329784 [T/C] NM_001014342 FLG2 EXON Missense_R160G exm100962 1 152329852 [T/C] NM_001014342 FLG2 EXON Missense_G137E exm100964 1 152329942 [T/C] NM_001014342 FLG2 EXON Missense_R107Q exm100965 1 152329951 [T/C] NM_001014342 FLG2 EXON Missense_R104H exm100966 1 152329952 [A/G] NM_001014342 FLG2 EXON Missense_R104C exm100969 1 152331240 [A/G] NM_001014342 FLG2 EXON Missense_L41F exm100975 1 152331330 [T/C] NM_001014342 FLG2 EXON Missense_V11I exm100978 1 152331354 [T/C] NM_001014342 FLG2 EXON Missense_D3N exm100981 1 152382120 [T/C] NM_016190 CRNN EXON Missense_G480S exm100982 1 152382122 [T/C] NM_016190 CRNN EXON Missense_R479Q exm100984 1 152382152 [T/C] NM_016190 CRNN EXON Missense_G469D exm100986 1 152382312 [T/C] NM_016190 CRNN EXON Missense_E416K exm1715132 1 152382436 [G/C] NM_016190 CRNN EXON Missense_Q374H exm101014 1 152383119 [T/G] NM_016190 CRNN EXON Missense_Q147K exm101015 1 152383131 [A/C] NM_016190 CRNN EXON Missense_G143C exm101020 1 152383244 [A/G] NM_016190 CRNN EXON Missense_L105P exm101022 1 152383266 [T/C] NM_016190 CRNN EXON Missense_G98S exm101023 1 152383382 [T/C] NM_016190 CRNN EXON Missense_R59H exm101030 1 152384630 [A/G] NM_016190 CRNN EXON Missense_A27V exm-rs908922 1 152454591 [A/G] exm2259807 1 152457624 [A/G] exm101040 1 152484119 [A/C] NM_178438 LCE5A EXON Missense_P37T exm101053 1 152484245 [T/C] NM_178438 LCE5A EXON Nonsense_R79X exm101055 1 152484260 [T/A] NM_178438 LCE5A EXON Missense_S84C exm101062 1 152487917 [A/G] NM_019060 CRCT1 EXON Missense_G20S exm101073 1 152488101 [G/C] NM_019060 CRCT1 EXON Missense_G81A exm101074 1 152488146 [A/G] NM_019060 CRCT1 EXON Missense_C96Y exm-rs499697 1 152493154 [A/G] exm-rs10888501 1 152537954 [A/G] exm-rs4085613 1 152550018 [T/G] exm-rs4112788 1 152551276 [A/G] exm101134 1 152573271 [A/C] NM_178434 LCE3C EXON Missense_P22T exm101160 1 152595405 [A/G] NM_178431 LCE3A EXON Missense_R59C exm1715210 1 152595565 [C/G] NM_178431 LCE3A EXON Missense_Q5H exm101242 1 152671385 [A/G] NM_178428 LCE2A EXON Missense_C3Y exm101268 1 152671679 [T/G] NM_178428 LCE2A EXON Missense_S101I exm101273 1 152681553 [A/T] NM_178356 LCE4A EXON Missense_M1K exm101274 1 152681560 [A/C] NM_178356 LCE4A EXON Nonsense_C3X exm101276 1 152681603 [A/G] NM_178356 LCE4A EXON Missense_I18V exm101281 1 152681655 [T/C] NM_178356 LCE4A EXON Missense_P35L exm101296 1 152681835 [T/G] NM_178356 LCE4A EXON Missense_G95V exm101304 1 152692074 [C/G] NM_001024679 C1orf68 EXON Missense_S26T exm101306 1 152692173 [A/G] NM_001024679 C1orf68 EXON Missense_Q59R exm101311 1 152692472 [A/C] NM_001024679 C1orf68 EXON Missense_T159P exm101313 1 152692512 [A/G] NM_001024679 C1orf68 EXON Missense_C172Y exm101314 1 152692514 [C/G] NM_001024679 C1orf68 EXON Missense_L173V exm101328 1 152732105 [A/C] NM_001025231 KPRP EXON Missense_Q14P exm101329 1 152732106 [A/T] NM_001025231 KPRP EXON Missense_Q14H exm101333 1 152732174 [T/C] NM_001025231 KPRP EXON Missense_V37A exm1715276 1 152732299 [A/G] NM_001025231 KPRP EXON Missense_K79E exm101337 1 152732366 [A/C] NM_001025231 KPRP EXON Missense_Q101P exm101339 1 152732383 [A/G] NM_001025231 KPRP EXON Missense_V107I exm101340 1 152732401 [T/C] NM_001025231 KPRP EXON Missense_C113R exm101349 1 152732567 [A/G] NM_001025231 KPRP EXON Missense_R168H exm101353 1 152732732 [T/C] NM_001025231 KPRP EXON Missense_S223F exm101357 1 152732786 [A/G] NM_001025231 KPRP EXON Missense_G241E exm101358 1 152732834 [G/C] NM_001025231 KPRP EXON Missense_P257R exm2249952 1 152732844 [A/G] NM_001025231 KPRP EXON Synonymous_R260R exm101362 1 152732876 [T/C] NM_001025231 KPRP EXON Missense_P271L exm2231305 1 152733046 [A/G] NM_001025231 KPRP EXON Missense_E328K exm101381 1 152733183 [A/C] NM_001025231 KPRP EXON Missense_H373Q exm101385 1 152733269 [T/C] NM_001025231 KPRP EXON Missense_P402L exm101386 1 152733275 [T/C] NM_001025231 KPRP EXON Missense_P404L exm101389 1 152733320 [A/G] NM_001025231 KPRP EXON Missense_R419H exm101393 1 152733376 [C/G] NM_001025231 KPRP EXON Missense_P438A exm101395 1 152733395 [T/C] NM_001025231 KPRP EXON Missense_P444L exm101400 1 152733472 [T/C] NM_001025231 KPRP EXON Missense_P470S exm101404 1 152733550 [A/C] NM_001025231 KPRP EXON Missense_R496S exm101413 1 152733658 [A/C] NM_001025231 KPRP EXON Missense_P532T exm101414 1 152733677 [T/G] NM_001025231 KPRP EXON Missense_G538V exm1715322 1 152777604 [T/G] NM_178351,NM_001276331 LCE1C,LCE1C EXON Nonsense_C117X,Nonsense_C87X exm101568 1 152785261 [G/C] NM_178349 LCE1B EXON Missense_H113Q exm101595 1 152800273 [T/G] NM_178348 LCE1A EXON Missense_C109G exm2259809 1 152849299 [A/G] exm101610 1 152856911 [T/A] NM_030663 SMCP EXON Missense_T5S exm101611 1 152856917 [T/C] NM_030663 SMCP EXON Missense_H7Y exm2231316 1 152857010 [A/C] NM_030663 SMCP EXON Missense_K38Q exm101624 1 152882302 [T/C] NM_005547 IVL EXON Missense_T10I exm101625 1 152882350 [T/C] NM_005547 IVL EXON Missense_P26L exm101632 1 152882512 [A/G] NM_005547 IVL EXON Missense_K80R exm2276998 1 152882562 [T/G] NM_005547 IVL EXON Nonsense_E97X exm101636 1 152882610 [A/G] NM_005547 IVL EXON Missense_T113A exm101638 1 152882700 [T/G] NM_005547 IVL EXON Nonsense_E143X exm101641 1 152882748 [G/C] NM_005547 IVL EXON Missense_Q159E exm101644 1 152882758 [A/G] NM_005547 IVL EXON Missense_H162R exm101646 1 152882760 [G/C] NM_005547 IVL EXON Missense_L163V exm101653 1 152882797 [A/T] NM_005547 IVL EXON Missense_H175L exm101698 1 152883155 [T/G] NM_005547 IVL EXON Missense_K294N exm101699 1 152883163 [T/A] NM_005547 IVL EXON Missense_D297V exm101701 1 152883207 [A/C] NM_005547 IVL EXON Missense_Q312K exm101718 1 152883381 [A/G] NM_005547 IVL EXON Missense_V370M exm101730 1 152883573 [A/G] NM_005547 IVL EXON Missense_E434K exm2249954 1 152883680 [A/G] NM_005547 IVL EXON Synonymous_Q469Q exm101746 1 152883687 [T/C] NM_005547 IVL EXON Missense_L472F exm101747 1 152883702 [A/G] NM_005547 IVL EXON Missense_E477K exm101749 1 152883711 [G/C] NM_005547 IVL EXON Missense_V480L exm101751 1 152883786 [C/G] NM_005547 IVL EXON Missense_Q505E exm101753 1 152883789 [G/C] NM_005547 IVL EXON Missense_Q506E exm101757 1 152883825 [A/G] NM_005547 IVL EXON Missense_G518R exm101766 1 152884006 [T/C] NM_005547 IVL EXON Missense_V578A exm-rs11576457 1 152918556 [T/C] exm101772 1 152944369 [A/G] NM_173080 SPRR4 EXON Missense_M1I exm101773 1 152944388 [T/C] NM_173080 SPRR4 EXON Missense_R8W exm101774 1 152944389 [A/G] NM_173080 SPRR4 EXON Missense_R8Q exm101781 1 152944499 [T/C] NM_173080 SPRR4 EXON Missense_P45S exm101790 1 152957776 [A/C] NM_005987,NM_001199828 SPRR1A,SPRR1A EXON Missense_P24T,Missense_P24T exm101807 1 152975555 [A/G] NM_001097589,NM_005416 SPRR3,SPRR3 EXON Missense_Q20R,Missense_Q20R exm101812 1 152975677 [A/G] NM_001097589,NM_005416 SPRR3,SPRR3 EXON Missense_V61I,Missense_V61I exm101822 1 152975798 [T/C] NM_001097589,NM_005416 SPRR3,SPRR3 EXON Missense_V101A,Missense_V101A exm101823 1 152975810 [A/G] NM_001097589,NM_005416 SPRR3,SPRR3 EXON Missense_G105D,Missense_G105D exm101827 1 152975831 [T/C] NM_001097589,NM_005416 SPRR3,SPRR3 EXON Missense_P112L,Missense_P112L exm101829 1 152975845 [T/G] NM_001097589,NM_005416 SPRR3,SPRR3 EXON Missense_V117F,Missense_V117F exm101836 1 152975936 [G/C] NM_001097589,NM_005416 SPRR3,SPRR3 EXON Missense_T147R,Missense_T147R exm101837 1 152975941 [G/C] NM_001097589,NM_005416 SPRR3,SPRR3 EXON Missense_L149V,Missense_L149V exm101839 1 152975963 [T/C] NM_001097589,NM_005416 SPRR3,SPRR3 EXON Missense_T156M,Missense_T156M exm2249955 1 153004848 [T/C] NM_003125 SPRR1B EXON Synonymous_P9P exm101854 1 153004859 [T/C] NM_003125 SPRR1B EXON Missense_P13L exm2231325 1 153005023 [A/C] NM_003125 SPRR1B EXON Missense_K68Q exm101949 1 153122367 [A/G] NM_001014291 SPRR2G EXON Missense_X74Q exm101952 1 153122404 [T/G] NM_001014291 SPRR2G EXON Nonsense_Y61X exm101955 1 153122498 [A/G] NM_001014291 SPRR2G EXON Missense_P30L exm101962 1 153122579 [T/C] NM_001014291 SPRR2G EXON Missense_Y3C exm101965 1 153177184 [A/G] NM_001010857 LELP1 EXON Missense_M1V exm101981 1 153177373 [A/C] NM_001010857 LELP1 EXON Missense_Q64K exm2249957 1 153226983 [A/G] exm102031 1 153234299 [A/G] NM_000427 LOR EXON Missense_G292S exm102037 1 153270461 [T/G] NM_052891 PGLYRP3 EXON Missense_I333L exm102040 1 153270580 [A/G] NM_052891 PGLYRP3 EXON Missense_A293V exm102045 1 153271621 [A/G] NM_052891 PGLYRP3 EXON Missense_A272V exm102048 1 153271682 [T/C] NM_052891 PGLYRP3 EXON Missense_V252M exm102050 1 153271685 [T/C] NM_052891 PGLYRP3 EXON Missense_G251S exm102057 1 153274919 [T/C] NM_052891 PGLYRP3 EXON Missense_M232V exm102059 1 153274935 [T/G] NM_052891 PGLYRP3 EXON Missense_N226K exm102062 1 153274972 [A/C] NM_052891 PGLYRP3 EXON Missense_C214F exm102066 1 153276333 [C/G] NM_052891 PGLYRP3 EXON Missense_V177L exm2249958 1 153276355 [T/C] NM_052891 PGLYRP3 EXON Synonymous_Q169Q exm2249959 1 153276409 [T/C] NM_052891 PGLYRP3 EXON Synonymous_S151S exm102072 1 153276425 [T/G] NM_052891 PGLYRP3 EXON Missense_Q146P exm102074 1 153276449 [T/C] NM_052891 PGLYRP3 EXON Missense_E138G exm102076 1 153277423 [T/C] NM_052891 PGLYRP3 EXON Missense_G126S exm102079 1 153277452 [A/G] NM_052891 PGLYRP3 EXON Missense_L116P exm102082 1 153277491 [A/G] NM_052891 PGLYRP3 EXON Missense_I103T exm102087 1 153279548 [A/G] NM_052891 PGLYRP3 EXON Missense_A84V exm102088 1 153279549 [G/C] NM_052891 PGLYRP3 EXON Missense_A84P exm102090 1 153279576 [T/C] NM_052891 PGLYRP3 EXON Missense_V75I exm102092 1 153279596 [T/C] NM_052891 PGLYRP3 EXON Missense_R68Q exm102093 1 153279597 [A/G] NM_052891 PGLYRP3 EXON Missense_R68W exm102096 1 153279615 [T/C] NM_052891 PGLYRP3 EXON Missense_V62I exm102098 1 153279624 [A/G] NM_052891 PGLYRP3 EXON Nonsense_Q59X exm102101 1 153279696 [T/C] NM_052891 PGLYRP3 EXON Missense_A35T exm102103 1 153279702 [A/G] NM_052891 PGLYRP3 EXON Missense_P33S exm102106 1 153279723 [A/G] NM_052891 PGLYRP3 EXON Missense_R26C exm1715471 1 153283092 [A/G] NM_052891 PGLYRP3 EXON Missense_A17V exm102112 1 153283134 [A/G] NM_052891 PGLYRP3 EXON Missense_T3M exm102119 1 153303326 [T/C] NM_020393 PGLYRP4 EXON Missense_G347S exm102123 1 153303392 [T/C] NM_020393 PGLYRP4 EXON Missense_A325T exm102124 1 153309699 [T/C] NM_020393 PGLYRP4 EXON Missense_D301N exm2276999 1 153312870 [T/C] NM_020393 PGLYRP4 EXON Missense_D271N exm102134 1 153312912 [A/G] NM_020393 PGLYRP4 EXON Missense_R257W exm102135 1 153312924 [A/G] NM_020393 PGLYRP4 EXON Missense_R253C exm102138 1 153312983 [A/G] NM_020393 PGLYRP4 EXON Missense_A233V exm1715479 1 153313010 [A/G] NM_020393 PGLYRP4 EXON Missense_T224I exm102141 1 153313034 [T/C] NM_020393 PGLYRP4 EXON Missense_R216Q exm102142 1 153313044 [T/C] NM_020393 PGLYRP4 EXON Missense_V213I exm1715483 1 153314113 [G/C] NM_020393 PGLYRP4 EXON Missense_S205R exm102148 1 153314115 [T/A] NM_020393 PGLYRP4 EXON Missense_S205C exm102151 1 153314153 [A/C] NM_020393 PGLYRP4 EXON Missense_G192V exm102154 1 153314190 [T/C] NM_020393 PGLYRP4 EXON Missense_G180S exm102157 1 153314228 [A/G] NM_020393 PGLYRP4 EXON Missense_S167L exm102158 1 153315578 [T/C] NM_020393 PGLYRP4 EXON Missense_G154S exm102165 1 153317699 [T/C] NM_020393 PGLYRP4 EXON Missense_R100Q exm102166 1 153317705 [A/C] NM_020393 PGLYRP4 EXON Missense_R98I exm102168 1 153317723 [T/C] NM_020393 PGLYRP4 EXON Missense_Q92R exm102170 1 153317777 [A/G] NM_020393 PGLYRP4 EXON Missense_T74M exm1715486 1 153317814 [T/C] NM_020393 PGLYRP4 EXON Missense_G62R exm102172 1 153317834 [A/G] NM_020393 PGLYRP4 EXON Missense_T55M exm102177 1 153320372 [T/G] NM_020393 PGLYRP4 EXON Missense_I13L exm102179 1 153320401 [A/G] NM_020393 PGLYRP4 EXON Missense_P3L exm102183 1 153330787 [T/C] NM_002965 S100A9 EXON Missense_R10C exm102185 1 153330884 [A/G] NM_002965 S100A9 EXON Missense_R42Q exm102190 1 153333264 [A/G] NM_002965 S100A9 EXON Missense_E99K exm102206 1 153347062 [T/C] NM_005621 S100A12 EXON Missense_K3E exm2273336 1 153362507 [A/G] exm102212 1 153362927 [T/C] NM_002964 S100A8 EXON Missense_V29I exm102219 1 153390542 [G/C] NM_176823 S100A7A EXON Silent exm102247 1 153391692 [T/G] NM_176823 S100A7A EXON Missense_D71E exm102256 1 153391781 [A/G] NM_176823 S100A7A EXON Missense_Q101R exm102267 1 153409674 [A/G] NM_001045479 S100A7L2 EXON Missense_S67P exm102270 1 153410679 [A/G] NM_001045479 S100A7L2 EXON Missense_F54L exm102271 1 153410682 [T/C] NM_001045479 S100A7L2 EXON Missense_N53D exm102275 1 153410751 [C/G] NM_001045479 S100A7L2 EXON Missense_Q30E exm102280 1 153410777 [A/G] NM_001045479 S100A7L2 EXON Missense_M21T exm102281 1 153410798 [A/G] NM_001045479 S100A7L2 EXON Missense_I14T exm102282 1 153410822 [A/C] NM_001045479 S100A7L2 EXON Missense_G6V exm102288 1 153430285 [A/C] NM_002963 S100A7 EXON Missense_Q101H exm102294 1 153430416 [T/C] NM_002963 S100A7 EXON Missense_V58I exm102303 1 153431406 [C/G] NM_002963 S100A7 EXON Missense_E28D exm102305 1 153431435 [T/G] NM_002963 S100A7 EXON Missense_K19Q exm1715554 1 153431505 [T/G] NM_002963 S100A7 EXON Silent exm-rs4845552 1 153479998 [A/G] exm102310 1 153507176 [T/C] NM_014624 S100A6 EXON Missense_G90D exm102312 1 153507255 [T/C] NM_014624 S100A6 EXON Missense_K64E exm102317 1 153507679 [A/G] NM_014624 S100A6 EXON Missense_S46L exm102318 1 153507710 [C/G] NM_014624 S100A6 EXON Missense_E36Q exm102319 1 153507738 [G/C] NM_014624 S100A6 EXON Missense_K26N exm102320 1 153507755 [T/C] NM_014624 S100A6 EXON Missense_G21S exm102323 1 153507787 [T/C] NM_014624 S100A6 EXON Missense_G10D exm102324 1 153507809 [A/G] NM_014624 S100A6 EXON Missense_C3R exm102325 1 153507812 [T/C] NM_014624 S100A6 EXON Missense_A2T exm102333 1 153509890 [T/C] NM_002962 S100A5 EXON Missense_D54G exm102336 1 153512532 [T/C] NM_002962 S100A5 EXON Missense_E46K exm102341 1 153512612 [T/A] NM_002962 S100A5 EXON Missense_Y19F exm2231338 1 153514241 [A/C] NM_002962 S100A5 EXON Silent exm102356 1 153516320 [T/C] NM_019554,NM_002961 S100A4,S100A4 EXON Missense_E74G,Missense_E74G exm102357 1 153516327 [A/C] NM_019554,NM_002961 S100A4,S100A4 EXON Missense_F72V,Missense_F72V exm102362 1 153517129 [T/C] NM_019554,NM_002961 S100A4,S100A4 Silent,Silent exm102376 1 153520235 [A/G] NM_002960 S100A3 EXON Missense_R77C exm102377 1 153520280 [G/C] NM_002960 S100A3 EXON Missense_L62V exm102378 1 153520297 [T/C] NM_002960 S100A3 EXON Missense_N56S exm102383 1 153520898 [A/G] NM_002960 S100A3 EXON Missense_R22C exm102385 1 153520954 [T/C] NM_002960 S100A3 EXON Missense_R3K exm102388 1 153533923 [A/G] NM_005978 S100A2 EXON Nonsense_R96X exm102392 1 153534027 [T/C] NM_005978 S100A2 EXON Missense_S61N exm102398 1 153536346 [G/C] NM_005978 S100A2 EXON Missense_C2S exm102410 1 153580155 [A/C] NM_080388 S100A16 EXON Missense_R56L exm102422 1 153580623 [G/C] NM_080388 S100A16 EXON Nonsense_S2X exm1715597 1 153580653 [A/C] NM_080388 S100A16 EXON Silent exm102427 1 153587371 [T/C] NM_020672 S100A14 EXON Missense_R102Q exm102430 1 153587413 [A/G] NM_020672 S100A14 EXON Missense_I88T exm2231340 1 153587425 [A/G] NM_020672 S100A14 EXON Missense_F84S exm1715601 1 153587711 [T/C] NM_020672 S100A14 EXON Synonymous_P59P exm102448 1 153591448 [T/G] NM_005979,NM_001024211,NM_001024210,NM_001024212,NM_001024213 S100A13,S100A13,S100A13,S100A13,S100A13 EXON Missense_N74H,Missense_N74H,Missense_N74H,Missense_N74H,Missense_N74H exm102451 1 153591508 [T/C] NM_005979,NM_001024211,NM_001024210,NM_001024212,NM_001024213 S100A13,S100A13,S100A13,S100A13,S100A13 EXON Missense_G54S,Missense_G54S,Missense_G54S,Missense_G54S,Missense_G54S exm102468 1 153603103 [A/G] NM_001024210,NM_006271 S100A13,S100A1 EXON Silent,Missense_E36K exm2231342 1 153604293 [G/C] NM_001024210,NM_006271 S100A13,S100A1 EXON Silent,Missense_N87K exm102500 1 153614810 [A/G] NM_001206612,NM_015607,NM_001244664 CHTOP,CHTOP,CHTOP EXON Missense_R104Q,Missense_R103Q,Silent exm102512 1 153615729 [A/G] NM_001206612,NM_015607,NM_001244664 CHTOP,CHTOP,CHTOP EXON Missense_A145T,Missense_A144T,Silent exm102515 1 153615820 [A/G] NM_001206612,NM_015607,NM_001244664 CHTOP,CHTOP,CHTOP EXON Missense_R175H,Missense_R174H,Silent exm102516 1 153615831 [A/G] NM_001206612,NM_015607,NM_001244664 CHTOP,CHTOP,CHTOP EXON Missense_G179S,Missense_G178S,Silent exm102520 1 153617543 [A/G] NM_001206612,NM_015607,NM_001244664 CHTOP,CHTOP,CHTOP EXON Missense_R183Q,Missense_R182Q,Missense_G75R exm102527 1 153617603 [G/C] NM_001206612,NM_015607,NM_001244664 CHTOP,CHTOP,CHTOP EXON Missense_G203A,Missense_G202A,Silent exm102534 1 153617737 [A/G] NM_001206612,NM_015607,NM_001244664 CHTOP,CHTOP,CHTOP EXON Missense_N248D,Missense_N247D,Silent exm2249961 1 153635194 [T/C] NM_004515,NM_001267809 ILF2,ILF2 EXON Synonymous_E333E,Synonymous_E295E exm102615 1 153652129 [T/C] NM_000906 NPR1 EXON Missense_A182V exm102627 1 153653757 [C/G] NM_000906 NPR1 EXON Missense_M341I exm1715696 1 153654234 [A/G] NM_000906 NPR1 EXON Missense_V364M exm102649 1 153655966 [A/G] NM_000906 NPR1 EXON Missense_E460K exm102650 1 153656216 [A/G] NM_000906 NPR1 EXON Missense_D467G exm102651 1 153656228 [A/C] NM_000906 NPR1 EXON Missense_T471N exm102667 1 153658297 [A/G] NM_000906 NPR1 EXON Missense_G541S exm102668 1 153658306 [A/C] NM_000906 NPR1 EXON Missense_L544I exm102677 1 153659131 [A/G] NM_000906 NPR1 EXON Missense_V590M exm102680 1 153659550 [A/G] NM_000906 NPR1 EXON Missense_N641S exm102693 1 153660154 [G/C] NM_000906 NPR1 EXON Missense_P713A exm1715720 1 153660625 [A/G] NM_000906 NPR1 EXON Missense_R782Q exm102727 1 153662340 [A/G] NM_000906 NPR1 EXON Missense_R939Q exm102732 1 153662423 [A/G] NM_000906 NPR1 EXON Missense_E967K exm102740 1 153665650 [T/C] NM_000906 NPR1 EXON Missense_L1034F exm2268764 1 153688250 [T/G] exm102789 1 153733358 [C/G] NM_023015 INTS3 EXON Missense_S458C exm2249962 1 153737199 [T/C] NM_023015 INTS3 EXON Synonymous_Y653Y exm102846 1 153744881 [A/G] NM_023015 INTS3 EXON Missense_N929S exm102877 1 153747981 [T/C] NM_024330 SLC27A3 EXON Missense_A50V exm102893 1 153748242 [A/G] NM_024330 SLC27A3 EXON Missense_R137H exm102895 1 153748325 [A/G] NM_024330 SLC27A3 EXON Missense_D165N exm102911 1 153749062 [C/G] NM_024330 SLC27A3 EXON Missense_G293R exm102912 1 153749065 [T/C] NM_024330 SLC27A3 EXON Missense_P294S exm2231348 1 153749538 [T/G] NM_024330 SLC27A3 EXON Missense_G340V exm102917 1 153749555 [T/C] NM_024330 SLC27A3 EXON Missense_R346W exm102931 1 153750267 [T/C] NM_024330 SLC27A3 EXON Missense_S403L exm102935 1 153750317 [T/C] NM_024330 SLC27A3 EXON Nonsense_Q420X exm102937 1 153750324 [T/C] NM_024330 SLC27A3 EXON Missense_I422T exm102938 1 153750338 [T/C] NM_024330 SLC27A3 EXON Nonsense_R427X exm1715821 1 153750339 [A/G] NM_024330 SLC27A3 EXON Missense_R427Q exm102940 1 153750360 [T/C] NM_024330 SLC27A3 EXON Missense_P434L exm102941 1 153750361 [A/G] NM_024330 SLC27A3 EXON Synonymous_P434P exm102943 1 153750650 [A/G] NM_024330 SLC27A3 EXON Missense_R439H exm102945 1 153750664 [T/C] NM_024330 SLC27A3 EXON Missense_R444W exm1715824 1 153750665 [A/G] NM_024330 SLC27A3 EXON Missense_R444Q exm102948 1 153750682 [A/G] NM_024330 SLC27A3 EXON Missense_G450R exm102949 1 153750689 [A/G] NM_024330 SLC27A3 EXON Missense_R452H exm102954 1 153750719 [A/G] NM_024330 SLC27A3 EXON Missense_R462H exm102960 1 153750769 [A/G] NM_024330 SLC27A3 EXON Missense_V479M exm102965 1 153750802 [A/G] NM_024330 SLC27A3 EXON Missense_A490T exm102966 1 153750812 [A/G] NM_024330 SLC27A3 EXON Missense_R493H exm102973 1 153750993 [T/C] NM_024330 SLC27A3 EXON Missense_R518W exm102974 1 153750994 [A/G] NM_024330 SLC27A3 EXON Missense_R518Q exm102979 1 153751247 [A/G] NM_024330 SLC27A3 EXON Missense_K558R exm102981 1 153751267 [T/C] NM_024330 SLC27A3 EXON Missense_R565W exm2273695 1 153751311 [G/C] NM_024330 SLC27A3 EXON Missense_C579W exm102986 1 153751312 [A/G] NM_024330 SLC27A3 EXON Missense_D580N exm102987 1 153751331 [A/G] NM_024330 SLC27A3 EXON Missense_R586H exm102996 1 153751635 [T/C] NM_024330 SLC27A3 EXON Synonymous_F611F exm2249964 1 153751635 [T/C] NM_024330 SLC27A3 EXON Synonymous_F611F exm103010 1 153751831 [A/G] NM_024330 SLC27A3 EXON Missense_R633K exm103016 1 153751917 [T/C] NM_024330 SLC27A3 EXON Missense_P662S exm103017 1 153751926 [T/C] NM_024330 SLC27A3 EXON Missense_R665W exm103018 1 153751927 [A/G] NM_024330 SLC27A3 EXON Missense_R665Q exm103027 1 153752365 [A/G] NM_024330 SLC27A3 EXON Missense_D694N exm103033 1 153752441 [A/G] NM_024330 SLC27A3 EXON Missense_R719Q exm103034 1 153752449 [A/G] NM_024330 SLC27A3 EXON Missense_A722T exm103035 1 153752471 [A/G] NM_024330 SLC27A3 EXON Missense_R729Q exm103036 1 153752478 [A/G] NM_024330 SLC27A3 EXON Missense_X731W exm-rs4434872 1 153774276 [T/C] exm103044 1 153784559 [A/G] NM_020699 GATAD2B EXON Missense_A490V exm103053 1 153785916 [C/G] NM_020699 GATAD2B EXON Missense_A410G exm103061 1 153789031 [T/C] NM_020699 GATAD2B EXON Missense_T312A exm103072 1 153790569 [G/C] NM_020699 GATAD2B EXON Missense_P226A exm103078 1 153792132 [T/C] NM_020699 GATAD2B EXON Missense_S139G exm103120 1 153904891 [T/C] NM_014856 DENND4B EXON Missense_G1262E exm103134 1 153905707 [T/A] NM_014856 DENND4B EXON Missense_D1140V exm103136 1 153905788 [A/G] NM_014856 DENND4B EXON Missense_A1113V exm103137 1 153905981 [T/C] NM_014856 DENND4B EXON Missense_R1103H exm103138 1 153905982 [A/G] NM_014856 DENND4B EXON Missense_R1103C exm103145 1 153906179 [T/C] NM_014856 DENND4B EXON Missense_S1037N exm103149 1 153906683 [A/G] NM_014856 DENND4B EXON Missense_R957C exm103150 1 153906715 [T/C] NM_014856 DENND4B EXON Missense_R946Q exm103151 1 153906724 [G/C] NM_014856 DENND4B EXON Missense_W943S exm103155 1 153907287 [C/G] NM_014856 DENND4B EXON Missense_Q908E exm103186 1 153910011 [A/G] NM_014856 DENND4B EXON Missense_P729S exm103195 1 153912211 [T/C] NM_014856 DENND4B EXON Missense_R558H exm103227 1 153914514 [T/C] NM_014856 DENND4B EXON Missense_G296S exm1715922 1 153914770 [T/C] NM_014856 DENND4B EXON Missense_V235I exm103255 1 153915553 [A/G] NM_014856 DENND4B EXON Missense_T124M exm103266 1 153916772 [T/C] NM_014856 DENND4B EXON Missense_E27K exm103281 1 153920692 [A/G] NM_181715 CRTC2 EXON Missense_R659C exm103282 1 153920715 [T/C] NM_181715 CRTC2 EXON Missense_G651E exm1715933 1 153921054 [T/C] NM_181715 CRTC2 EXON Missense_G581R exm103290 1 153921085 [C/G] NM_181715 CRTC2 EXON Missense_S570R exm1715934 1 153921613 [T/A] NM_181715 CRTC2 EXON Missense_M551K exm103296 1 153921721 [G/C] NM_181715 CRTC2 EXON Missense_C515S exm1715944 1 153924005 [A/G] NM_181715 CRTC2 EXON Missense_R379C exm103359 1 153930951 [T/C] NM_181715 CRTC2 EXON Missense_G8E exm103365 1 153932719 [C/G] NM_001271958,NM_014437,NM_001271957,NM_001271961,NM_001271960,NM_001271959 SLC39A1,SLC39A1,SLC39A1,SLC39A1,SLC39A1,SLC39A1 EXON Missense_G277A,Missense_G277A,Missense_G277A,Silent,Missense_G277A,Missense_G277A exm103372 1 153932809 [A/G] NM_001271958,NM_014437,NM_001271957,NM_001271961,NM_001271960,NM_001271959 SLC39A1,SLC39A1,SLC39A1,SLC39A1,SLC39A1,SLC39A1 EXON Missense_S247L,Missense_S247L,Missense_S247L,Silent,Missense_S247L,Missense_S247L exm103376 1 153932932 [T/C] NM_001271958,NM_014437,NM_001271957,NM_001271961,NM_001271960,NM_001271959 SLC39A1,SLC39A1,SLC39A1,SLC39A1,SLC39A1,SLC39A1 EXON Missense_R206Q,Missense_R206Q,Missense_R206Q,Silent,Missense_R206Q,Missense_R206Q exm103378 1 153932965 [T/C] NM_001271958,NM_014437,NM_001271957,NM_001271961,NM_001271960,NM_001271959 SLC39A1,SLC39A1,SLC39A1,SLC39A1,SLC39A1,SLC39A1 EXON Missense_G195E,Missense_G195E,Missense_G195E,Silent,Missense_G195E,Missense_G195E exm2249965 1 153934786 [A/C] NM_001271958,NM_014437,NM_001271957,NM_001271961,NM_001271960,NM_001271959 SLC39A1,SLC39A1,SLC39A1,SLC39A1,SLC39A1,SLC39A1 EXON Synonymous_A76A,Synonymous_A76A,Synonymous_A76A,Silent,Synonymous_A76A,Synonymous_A76A exm103395 1 153934820 [T/C] NM_001271958,NM_014437,NM_001271957,NM_001271961,NM_001271960,NM_001271959 SLC39A1,SLC39A1,SLC39A1,SLC39A1,SLC39A1,SLC39A1 EXON Missense_R65H,Missense_R65H,Missense_R65H,Silent,Missense_R65H,Missense_R65H exm103404 1 153940996 [A/C] NM_130898,NR_045658,NM_001255978,NM_001255980,NM_001255981,NM_001255979 CREB3L4,CREB3L4,CREB3L4,CREB3L4,CREB3L4,CREB3L4 Silent,Silent,Silent,Silent,Silent,Silent exm103406 1 153941005 [A/G] NM_130898,NR_045658,NM_001255978,NM_001255980,NM_001255981,NM_001255979 CREB3L4,CREB3L4,CREB3L4,CREB3L4,CREB3L4,CREB3L4 EXON Missense_D2N,Silent,Missense_D2N,Missense_D2N,Missense_D2N,Missense_D2N exm103409 1 153941030 [A/G] NM_130898,NR_045658,NM_001255978,NM_001255980,NM_001255981,NM_001255979 CREB3L4,CREB3L4,CREB3L4,CREB3L4,CREB3L4,CREB3L4 EXON Missense_D10G,Silent,Missense_D10G,Missense_D10G,Missense_D10G,Missense_D10G exm103412 1 153941105 [T/C] NM_130898,NR_045658,NM_001255978,NM_001255980,NM_001255981,NM_001255979 CREB3L4,CREB3L4,CREB3L4,CREB3L4,CREB3L4,CREB3L4 EXON Missense_P35L,Silent,Missense_P35L,Missense_P35L,Missense_P35L,Missense_P35L exm103420 1 153941506 [A/C] NM_130898,NR_045658,NM_001255978,NM_001255980,NM_001255981,NM_001255979 CREB3L4,CREB3L4,CREB3L4,CREB3L4,CREB3L4,CREB3L4 EXON Missense_S92Y,Silent,Missense_S92Y,Missense_S72Y,Missense_S72Y,Missense_S92Y exm103421 1 153941514 [T/C] NM_130898,NR_045658,NM_001255978,NM_001255980,NM_001255981,NM_001255979 CREB3L4,CREB3L4,CREB3L4,CREB3L4,CREB3L4,CREB3L4 EXON Missense_P95S,Silent,Missense_P95S,Missense_P75S,Missense_P75S,Missense_P95S exm103423 1 153941536 [T/C] NM_130898,NR_045658,NM_001255978,NM_001255980,NM_001255981,NM_001255979 CREB3L4,CREB3L4,CREB3L4,CREB3L4,CREB3L4,CREB3L4 EXON Missense_P102L,Silent,Missense_P102L,Missense_P82L,Missense_P82L,Missense_P102L exm103425 1 153941563 [T/C] NM_130898,NR_045658,NM_001255978,NM_001255980,NM_001255981,NM_001255979 CREB3L4,CREB3L4,CREB3L4,CREB3L4,CREB3L4,CREB3L4 EXON Missense_M111T,Silent,Missense_M111T,Missense_M91T,Missense_M91T,Missense_M111T exm103428 1 153941602 [A/G] NM_130898,NR_045658,NM_001255978,NM_001255980,NM_001255981,NM_001255979 CREB3L4,CREB3L4,CREB3L4,CREB3L4,CREB3L4,CREB3L4 EXON Missense_R124K,Silent,Missense_R124K,Missense_R104K,Missense_R104K,Missense_R124K exm103438 1 153941931 [A/G] NM_130898,NR_045658,NM_001255978,NM_001255980,NM_001255981,NM_001255979 CREB3L4,CREB3L4,CREB3L4,CREB3L4,CREB3L4,CREB3L4 EXON Synonymous_L181L,Silent,Synonymous_L181L,Synonymous_L161L,Synonymous_L161L,Synonymous_L181L exm103445 1 153945502 [A/G] NM_130898,NR_045658,NM_001255978,NM_001255980,NM_001255981,NM_001255979 CREB3L4,CREB3L4,CREB3L4,CREB3L4,CREB3L4,CREB3L4 EXON Missense_A231T,Silent,Missense_A231T,Missense_A211T,Missense_A211T,Missense_A231T exm103455 1 153945876 [A/G] NM_130898,NR_045658,NM_001255978,NM_001255980,NM_001255981,NM_001255979 CREB3L4,CREB3L4,CREB3L4,CREB3L4,CREB3L4,CREB3L4 EXON Missense_R278H,Silent,Missense_R278H,Missense_R258H,Missense_R258H,Missense_R278H exm103465 1 153946189 [C/G] NM_130898,NR_045658,NM_001255978,NM_001255980,NM_001255981,NM_001255979 CREB3L4,CREB3L4,CREB3L4,CREB3L4,CREB3L4,CREB3L4 EXON Missense_G331R,Silent,Missense_G331R,Missense_G311R,Missense_G311R,Missense_G331R exm1716002 1 153946380 [A/G] NM_130898,NR_045658,NM_001255978,NM_001255980,NM_001255981,NM_001255979 CREB3L4,CREB3L4,CREB3L4,CREB3L4,CREB3L4,CREB3L4 EXON Missense_V343I,Silent,Missense_V343I,Missense_V323I,Missense_V323I,Missense_V343I exm103468 1 153946404 [C/G] NM_130898,NR_045658,NM_001255978,NM_001255980,NM_001255981,NM_001255979 CREB3L4,CREB3L4,CREB3L4,CREB3L4,CREB3L4,CREB3L4 EXON Missense_V351L,Silent,Missense_V351L,Missense_V331L,Missense_V331L,Missense_V351L exm103471 1 153946450 [A/G] NM_130898,NR_045658,NM_001255978,NM_001255980,NM_001255981,NM_001255979 CREB3L4,CREB3L4,CREB3L4,CREB3L4,CREB3L4,CREB3L4 EXON Missense_N366S,Silent,Missense_N366S,Missense_N346S,Missense_N346S,Missense_N366S exm103472 1 153946473 [A/G] NM_130898,NR_045658,NM_001255978,NM_001255980,NM_001255981,NM_001255979 CREB3L4,CREB3L4,CREB3L4,CREB3L4,CREB3L4,CREB3L4 EXON Missense_E374K,Silent,Missense_E374K,Missense_E354K,Missense_E354K,Missense_E374K exm103473 1 153946503 [A/G] NM_130898,NR_045658,NM_001255978,NM_001255980,NM_001255981,NM_001255979 CREB3L4,CREB3L4,CREB3L4,CREB3L4,CREB3L4,CREB3L4 EXON Missense_G384R,Silent,Missense_G384R,Missense_G364R,Missense_G364R,Missense_G384R exm103476 1 153946513 [A/G] NM_130898,NR_045658,NM_001255978,NM_001255980,NM_001255981,NM_001255979 CREB3L4,CREB3L4,CREB3L4,CREB3L4,CREB3L4,CREB3L4 EXON Missense_R387Q,Silent,Missense_R387Q,Missense_R367Q,Missense_R367Q,Missense_R387Q exm103477 1 153946515 [T/A] NM_130898,NR_045658,NM_001255978,NM_001255980,NM_001255981,NM_001255979 CREB3L4,CREB3L4,CREB3L4,CREB3L4,CREB3L4,CREB3L4 EXON Missense_S388T,Silent,Missense_S388T,Missense_S368T,Missense_S368T,Missense_S388T exm103478 1 153946518 [A/G] NM_130898,NR_045658,NM_001255978,NM_001255980,NM_001255981,NM_001255979 CREB3L4,CREB3L4,CREB3L4,CREB3L4,CREB3L4,CREB3L4 EXON Missense_V389M,Silent,Missense_V389M,Missense_V369M,Missense_V369M,Missense_V389M exm103486 1 153947306 [T/C] NM_006694 JTB EXON Missense_R97H exm103490 1 153948338 [A/C] NM_006694 JTB EXON Missense_I83S exm103491 1 153948363 [T/C] NM_006694 JTB EXON Missense_G75S exm103500 1 153949683 [A/G] NM_006694 JTB EXON Missense_L16F exm103508 1 153954646 [T/C] NR_073553,NM_002870,NM_001272038 RAB13,RAB13,RAB13 EXON Silent,Missense_G181S,Missense_G100S exm103522 1 153955054 [T/C] NR_073553,NM_002870,NM_001272038 RAB13,RAB13,RAB13 EXON Silent,Missense_R146Q,Missense_R65Q exm103524 1 153955069 [T/C] NR_073553,NM_002870,NM_001272038 RAB13,RAB13,RAB13 EXON Silent,Missense_R141Q,Missense_R60Q exm103535 1 153957201 [T/C] NR_073553,NM_002870,NM_001272038 RAB13,RAB13,RAB13 EXON Silent,Missense_V61I,Silent exm2231358 1 153958618 [T/C] NR_073553,NM_002870 RAB13,RAB13 EXON Silent,Missense_N32S exm103541 1 153963239 [T/C] NM_001030 RPS27 EXON Silent exm103566 1 153964542 [T/A] NM_001030 RPS27 EXON Synonymous_G76G exm103568 1 153965322 [T/C] NM_207308,NM_001159484 NUP210L,NUP210L EXON Missense_I1886V,Missense_I1734V exm103578 1 153967569 [A/G] NM_207308,NM_001159484 NUP210L,NUP210L EXON Missense_T1825I,Missense_T1673I exm103592 1 153973445 [T/C] NM_207308,NM_001159484 NUP210L,NUP210L EXON Missense_N1758S,Silent exm103594 1 153973494 [T/G] NM_207308,NM_001159484 NUP210L,NUP210L EXON Missense_H1742N,Silent exm103601 1 153982536 [T/C] NM_207308,NM_001159484 NUP210L,NUP210L EXON Missense_M1614I,Missense_M1614I exm103605 1 153984776 [T/C] NM_207308,NM_001159484 NUP210L,NUP210L EXON Missense_N1575S,Missense_N1575S exm103616 1 153994647 [T/C] NM_207308,NM_001159484 NUP210L,NUP210L EXON Missense_V1491I,Missense_V1491I exm103625 1 153998032 [T/C] NM_207308,NM_001159484 NUP210L,NUP210L EXON Missense_I1370V,Missense_I1370V exm103627 1 153998128 [T/C] NM_207308,NM_001159484 NUP210L,NUP210L EXON Missense_E1338K,Missense_E1338K exm103628 1 153998176 [T/C] NM_207308,NM_001159484 NUP210L,NUP210L EXON Missense_V1322M,Missense_V1322M exm103635 1 154002437 [T/C] NM_207308,NM_001159484 NUP210L,NUP210L EXON Missense_M1264V,Missense_M1264V exm103637 1 154018621 [T/C] NM_207308,NM_001159484 NUP210L,NUP210L EXON Missense_N1207S,Missense_N1207S exm103638 1 154018655 [T/C] NM_207308,NM_001159484 NUP210L,NUP210L EXON Missense_V1196I,Missense_V1196I exm103643 1 154018835 [T/G] NM_207308,NM_001159484 NUP210L,NUP210L EXON Missense_Q1165P,Missense_Q1165P exm103650 1 154026847 [T/C] NM_207308,NM_001159484 NUP210L,NUP210L EXON Missense_V1114I,Missense_V1114I exm103665 1 154031134 [A/C] NM_207308,NM_001159484 NUP210L,NUP210L EXON Missense_E962D,Missense_E962D exm103670 1 154033471 [T/C] NM_207308,NM_001159484 NUP210L,NUP210L EXON Missense_D899N,Missense_D899N exm103672 1 154033488 [T/C] NM_207308,NM_001159484 NUP210L,NUP210L EXON Missense_E893G,Missense_E893G exm103689 1 154061982 [T/G] NM_207308,NM_001159484 NUP210L,NUP210L EXON Missense_H759P,Missense_H759P exm2273696 1 154067577 [A/G] NM_207308,NM_001159484 NUP210L,NUP210L EXON Missense_V674A,Missense_V674A exm103704 1 154072601 [A/G] NM_207308,NM_001159484 NUP210L,NUP210L EXON Missense_P613L,Missense_P613L exm103705 1 154076490 [T/C] NM_207308,NM_001159484 NUP210L,NUP210L EXON Missense_E606G,Missense_E606G exm103714 1 154076659 [T/C] NM_207308,NM_001159484 NUP210L,NUP210L EXON Missense_E550K,Missense_E550K exm103715 1 154090238 [T/C] NM_207308,NM_001159484 NUP210L,NUP210L EXON Missense_R528Q,Missense_R528Q exm103720 1 154091155 [T/C] NM_207308,NM_001159484 NUP210L,NUP210L EXON Missense_K486E,Missense_K486E exm103721 1 154091208 [A/G] NM_207308,NM_001159484 NUP210L,NUP210L EXON Missense_T468I,Missense_T468I exm103723 1 154091244 [T/C] NM_207308,NM_001159484 NUP210L,NUP210L EXON Missense_Q456R,Missense_Q456R exm2259810 1 154093825 [A/G] NM_207308,NM_001159484 NUP210L,NUP210L Silent,Silent exm103741 1 154110654 [A/G] NM_207308,NM_001159484 NUP210L,NUP210L EXON Missense_H260Y,Missense_H260Y exm103743 1 154110692 [T/C] NM_207308,NM_001159484 NUP210L,NUP210L EXON Missense_R247H,Missense_R247H exm103752 1 154113953 [T/C] NM_207308,NM_001159484 NUP210L,NUP210L EXON Missense_A174T,Missense_A174T exm2249967 1 154115992 [T/C] NM_207308,NM_001159484 NUP210L,NUP210L EXON Synonymous_V134V,Synonymous_V134V exm103759 1 154125244 [T/C] NM_207308,NM_001159484 NUP210L,NUP210L EXON Missense_R103H,Missense_R103H exm103763 1 154125299 [A/C] NM_207308,NM_001159484 NUP210L,NUP210L EXON Missense_G85C,Missense_G85C exm103769 1 154127427 [A/G] NM_207308,NM_001159484 NUP210L,NUP210L EXON Missense_R32C,Missense_R32C exm2249968 1 154127482 [A/G] NM_207308,NM_001159484 NUP210L,NUP210L EXON Synonymous_F13F,Synonymous_F13F exm103773 1 154127509 [A/C] NM_207308,NM_001159484 NUP210L,NUP210L EXON Missense_C4W,Missense_C4W exm103788 1 154143165 [T/A] NM_001043352,NM_001043353,NM_153649,NM_001043351,NM_152263 TPM3,TPM3,TPM3,TPM3,TPM3 EXON Missense_Y185F,Missense_Y185F,Missense_Y185F,Missense_Y185F,Missense_Y222F exm103798 1 154144579 [A/G] NM_001043352,NM_001043353,NM_153649,NM_001043351,NM_152263 TPM3,TPM3,TPM3,TPM3,TPM3 EXON Missense_R153C,Silent,Missense_R153C,Silent,Silent exm103808 1 154155480 [T/C] NM_001043352,NM_001043353,NM_153649,NM_001043351,NM_152263 TPM3,TPM3,TPM3,TPM3,TPM3 EXON Missense_R39K,Missense_R39K,Missense_R39K,Missense_R39K,Silent exm103813 1 154164403 [T/G] NM_152263 TPM3 EXON Missense_K31T exm103826 1 154173005 [A/G] NM_001010979 C1orf189 EXON Missense_P45L exm103827 1 154173059 [T/C] NM_001010979 C1orf189 EXON Missense_R27Q exm103831 1 154178081 [T/C] NM_001010979 C1orf189 EXON Missense_V23I exm1716156 1 154178115 [C/G] NM_001010979 C1orf189 Silent exm1716162 1 154184830 [A/G] NM_001098616,NM_015449,NM_138740 C1orf43,C1orf43,C1orf43 EXON Missense_R178C,Missense_R144C,Missense_R126C exm103849 1 154184993 [A/G] NM_001098616,NM_015449,NM_138740 C1orf43,C1orf43,C1orf43 EXON Missense_R150C,Missense_R116C,Missense_R98C exm103851 1 154185037 [T/C] NM_001098616,NM_015449,NM_138740 C1orf43,C1orf43,C1orf43 EXON Missense_Y135C,Missense_Y101C,Missense_Y83C exm103863 1 154187028 [A/G] NM_001098616,NM_015449,NM_138740 C1orf43,C1orf43,C1orf43 EXON Missense_I64T,Missense_I30T,Missense_I30T exm2231368 1 154209611 [A/G] NM_001127320,NM_014847 UBAP2L,UBAP2L EXON Synonymous_T234T,Synonymous_T234T exm103901 1 154218706 [A/C] NM_001127320,NM_014847 UBAP2L,UBAP2L EXON Missense_K290T,Missense_K290T exm103909 1 154223544 [T/C] NM_001127320,NM_014847 UBAP2L,UBAP2L EXON Missense_V414A,Missense_V414A exm103911 1 154223634 [A/C] NM_001127320,NM_014847 UBAP2L,UBAP2L EXON Missense_T444N,Missense_T444N exm103912 1 154223658 [T/C] NM_001127320,NM_014847 UBAP2L,UBAP2L EXON Missense_P452L,Missense_P452L exm2231371 1 154226410 [A/C] NM_001127320,NM_014847 UBAP2L,UBAP2L EXON Missense_Q567K,Missense_Q567K exm103930 1 154226521 [A/G] NM_001127320,NM_014847 UBAP2L,UBAP2L EXON Missense_S604G,Missense_S604G exm1716219 1 154227639 [T/C] NM_001127320,NM_014847 UBAP2L,UBAP2L EXON Missense_S641P,Missense_S641P exm103938 1 154227643 [T/C] NM_001127320,NM_014847 UBAP2L,UBAP2L EXON Missense_A642V,Missense_A642V exm2249969 1 154231461 [A/G] NM_001127320,NM_014847 UBAP2L,UBAP2L EXON Synonymous_V817V,Synonymous_V817V exm2231372 1 154234110 [A/G] NM_001127320,NM_014847 UBAP2L,UBAP2L EXON Missense_V947M,Missense_V947M exm104008 1 154245214 [A/T] NM_001018837,NM_006118 HAX1,HAX1 EXON Missense_D5E,Missense_D5E exm104015 1 154245867 [G/C] NM_001018837,NM_006118 HAX1,HAX1 EXON Silent,Missense_E37Q exm104020 1 154245918 [C/G] NM_001018837,NM_006118 HAX1,HAX1 EXON Silent,Missense_P54A exm104021 1 154245928 [T/C] NM_001018837,NM_006118 HAX1,HAX1 EXON Silent,Missense_P57L exm1716245 1 154247435 [A/G] NM_001018837,NM_006118 HAX1,HAX1 EXON Missense_V124I,Missense_V172I exm104042 1 154247666 [T/C] NM_001018837,NM_006118 HAX1,HAX1 EXON Missense_P150L,Missense_P198L exm2231373 1 154247930 [A/G] NM_001018837,NM_006118 HAX1,HAX1 EXON Missense_R194Q,Missense_R242Q exm104052 1 154247935 [A/G] NM_001018837,NM_006118 HAX1,HAX1 EXON Missense_E196K,Missense_E244K exm104058 1 154248166 [T/C] NM_001018837,NM_006118 HAX1,HAX1 EXON Missense_R229W,Missense_R277W exm104078 1 154295592 [T/C] NM_080429 AQP10 EXON Missense_H123Y exm104079 1 154295594 [T/C] NM_080429 AQP10 EXON Synonymous_H123H exm104092 1 154296774 [T/G] NM_080429 AQP10 EXON Missense_W242G exm104113 1 154302929 [T/C] NM_001005855,NM_020452 ATP8B2,ATP8B2 EXON Missense_A30V,Missense_A63V exm104118 1 154303345 [T/C] NM_001005855,NM_020452 ATP8B2,ATP8B2 EXON Missense_L49F,Missense_L82F exm104128 1 154303963 [A/G] NM_001005855,NM_020452 ATP8B2,ATP8B2 EXON Missense_Q116R,Missense_Q149R exm104144 1 154309887 [A/G] NM_001005855,NM_020452 ATP8B2,ATP8B2 EXON Missense_E301K,Missense_E334K exm104165 1 154315748 [A/G] NM_020452 ATP8B2 EXON Missense_N571S exm104175 1 154316371 [T/G] NM_020452 ATP8B2 EXON Missense_E620D exm104176 1 154316373 [A/G] NM_020452 ATP8B2 EXON Missense_Y621C exm104181 1 154316453 [T/C] NM_020452 ATP8B2 EXON Missense_R648C exm2249970 1 154317123 [T/C] NM_020452 ATP8B2 EXON Synonymous_A749A exm104197 1 154317149 [A/G] NM_020452 ATP8B2 EXON Missense_R758H exm104199 1 154317170 [T/C] NM_020452 ATP8B2 EXON Missense_T765I exm104200 1 154317197 [A/G] NM_020452 ATP8B2 EXON Missense_K774R exm104206 1 154317489 [A/G] NM_020452 ATP8B2 EXON Missense_T810A exm104218 1 154318761 [A/C] NM_020452 ATP8B2 EXON Missense_L978M exm104228 1 154319204 [G/C] NM_020452 ATP8B2 EXON Missense_D1078H exm104241 1 154321009 [A/G] NM_020452 ATP8B2 EXON Missense_D1130N exm104246 1 154321382 [T/C] NM_020452 ATP8B2 EXON Missense_R1154C exm104247 1 154321391 [T/C] NM_020452 ATP8B2 EXON Missense_S1157P exm104258 1 154321551 [T/C] NM_020452 ATP8B2 EXON Missense_A1210V exm2268765 1 154400015 [T/G] NM_000565,NM_181359,NM_001206866 IL6R,IL6R,IL6R Silent,Silent,Silent exm104278 1 154401780 [T/C] NM_000565,NM_181359,NM_001206866 IL6R,IL6R,IL6R EXON Missense_P65L,Missense_P65L,Missense_P65L exm104281 1 154401825 [T/G] NM_000565,NM_181359,NM_001206866 IL6R,IL6R,IL6R EXON Missense_R80M,Missense_R80M,Missense_R80M exm104283 1 154401858 [T/C] NM_000565,NM_181359,NM_001206866 IL6R,IL6R,IL6R EXON Missense_S91F,Missense_S91F,Missense_S91F exm104296 1 154407101 [A/G] NM_000565,NM_181359,NM_001206866 IL6R,IL6R,IL6R EXON Missense_I189V,Missense_I189V,Missense_I189V exm104297 1 154407110 [A/G] NM_000565,NM_181359,NM_001206866 IL6R,IL6R,IL6R EXON Missense_M192V,Missense_M192V,Missense_M192V exm104310 1 154408560 [T/C] NM_000565,NM_181359,NM_001206866 IL6R,IL6R,IL6R EXON Missense_P308L,Missense_P308L,Missense_P308L exm-rs4537545 1 154418879 [T/C] NM_000565,NM_181359 IL6R,IL6R Silent,Silent exm-rs4845625 1 154422067 [T/C] NM_000565,NM_181359 IL6R,IL6R Silent,Silent exm-rs4129267 1 154426264 [T/C] NM_000565,NM_181359 IL6R,IL6R Silent,Silent exm104320 1 154426970 [A/C] NM_000565,NM_181359 IL6R,IL6R EXON Missense_D358A,Silent exm104324 1 154427050 [A/G] NM_000565,NM_181359 IL6R,IL6R EXON Missense_V385I,Silent exm104332 1 154437632 [T/C] NM_000565,NM_181359 IL6R,IL6R EXON Missense_R395W,Synonymous_C363C exm104344 1 154437801 [C/G] NM_000565,NM_181359 IL6R,IL6R EXON Missense_R451T,Silent exm2249972 1 154458442 [A/G] NM_001010846 SHE EXON Synonymous_N426N exm104356 1 154458497 [T/C] NM_001010846 SHE EXON Missense_R408Q exm104360 1 154459057 [A/G] NM_001010846 SHE EXON Missense_S376L exm1716403 1 154459120 [T/G] NM_001010846 SHE EXON Missense_E355A exm104368 1 154461587 [T/C] NM_001010846 SHE EXON Missense_A322T exm104393 1 154473961 [A/G] NM_001010846 SHE EXON Missense_S181F exm104400 1 154474189 [C/G] NM_001010846 SHE EXON Missense_R105P exm104412 1 154493878 [T/C] NM_001098475,NM_182499 TDRD10,TDRD10 EXON Nonsense_R98X,Nonsense_R98X exm104419 1 154493930 [T/C] NM_001098475,NM_182499 TDRD10,TDRD10 EXON Missense_M115T,Missense_M115T exm104424 1 154514541 [T/C] NM_001098475,NM_182499 TDRD10,TDRD10 EXON Synonymous_A137A,Synonymous_A137A exm104434 1 154516477 [A/G] NM_001098475,NM_182499 TDRD10,TDRD10 EXON Missense_R181Q,Missense_R181Q exm104435 1 154516509 [A/G] NM_001098475,NM_182499 TDRD10,TDRD10 EXON Missense_V192I,Missense_V192I exm104441 1 154516578 [A/G] NM_001098475,NM_182499 TDRD10,TDRD10 EXON Missense_V215I,Missense_V215I exm104445 1 154516933 [T/C] NM_001098475,NM_182499 TDRD10,TDRD10 EXON Missense_M246T,Missense_M246T exm104449 1 154516944 [T/C] NM_001098475,NM_182499 TDRD10,TDRD10 EXON Missense_R250C,Missense_R250C exm104451 1 154516956 [T/G] NM_001098475,NM_182499 TDRD10,TDRD10 EXON Nonsense_E254X,Nonsense_E254X exm1716442 1 154516983 [A/G] NM_001098475,NM_182499 TDRD10,TDRD10 EXON Missense_A263T,Missense_A263T exm104461 1 154519909 [T/C] NM_001098475,NM_182499 TDRD10,TDRD10 EXON Missense_V326A,Missense_V326A exm104462 1 154519992 [T/C] NM_001098475,NM_182499 TDRD10,TDRD10 EXON Missense_P354S,Silent exm104501 1 154528361 [A/C] NM_017582 UBE2Q1 EXON Missense_V136G exm104505 1 154530746 [T/C] NM_017582 UBE2Q1 EXON Missense_G95E exm2259811 1 154531910 [A/G] exm104520 1 154541950 [T/C] NM_000748 CHRNB2 EXON Missense_T26M exm104523 1 154541971 [T/G] NM_000748 CHRNB2 EXON Missense_V33G exm104578 1 154548277 [C/G] NM_000748 CHRNB2 EXON Missense_R460G exm104580 1 154548331 [T/C] NM_000748 CHRNB2 EXON Missense_F478L exm104596 1 154557735 [T/C] NM_001025107,NM_015840,NM_001193495,NM_001111,NM_015841 ADAR,ADAR,ADAR,ADAR,ADAR EXON Missense_Y839C,Missense_Y1108C,Missense_Y839C,Missense_Y1134C,Missense_Y1089C exm104604 1 154560602 [A/G] NM_001025107,NM_015840,NM_001193495,NM_001111,NM_015841 ADAR,ADAR,ADAR,ADAR,ADAR EXON Synonymous_N711N,Synonymous_N980N,Synonymous_N711N,Synonymous_N1006N,Synonymous_N961N exm104636 1 154562881 [T/C] NM_001025107,NM_015840,NM_001193495,NM_001111,NM_015841 ADAR,ADAR,ADAR,ADAR,ADAR EXON Missense_V464I,Missense_V759I,Missense_V464I,Missense_V759I,Missense_V740I exm104654 1 154570903 [T/C] NM_001025107,NM_015840,NM_001193495,NM_001111,NM_015841 ADAR,ADAR,ADAR,ADAR,ADAR EXON Missense_Y292C,Missense_Y587C,Missense_Y292C,Missense_Y587C,Missense_Y587C exm104667 1 154573718 [T/C] NM_001025107,NM_015840,NM_001193495,NM_001111,NM_015841 ADAR,ADAR,ADAR,ADAR,ADAR EXON Missense_R172H,Missense_R467H,Missense_R172H,Missense_R467H,Missense_R467H exm104672 1 154573967 [T/C] NM_001025107,NM_015840,NM_001193495,NM_001111,NM_015841 ADAR,ADAR,ADAR,ADAR,ADAR EXON Missense_K89R,Missense_K384R,Missense_K89R,Missense_K384R,Missense_K384R exm104686 1 154574346 [T/C] NM_001025107,NM_015840,NM_001193495,NM_001111,NM_015841 ADAR,ADAR,ADAR,ADAR,ADAR EXON Silent,Missense_G258R,Silent,Missense_G258R,Missense_G258R exm104695 1 154574600 [T/C] NM_001025107,NM_015840,NM_001193495,NM_001111,NM_015841 ADAR,ADAR,ADAR,ADAR,ADAR EXON Silent,Missense_N173S,Silent,Missense_N173S,Missense_N173S exm104699 1 154574820 [T/C] NM_001025107,NM_015840,NM_001193495,NM_001111,NM_015841 ADAR,ADAR,ADAR,ADAR,ADAR EXON Silent,Missense_R100G,Silent,Missense_R100G,Missense_R100G exm104701 1 154574903 [T/C] NM_001025107,NM_015840,NM_001193495,NM_001111,NM_015841 ADAR,ADAR,ADAR,ADAR,ADAR EXON Silent,Missense_R72Q,Silent,Missense_R72Q,Missense_R72Q exm104734 1 154680636 [T/G] NM_170782,NM_001204087,NM_002249 KCNN3,KCNN3,KCNN3 EXON Missense_N366T,Missense_N686T,Missense_N671T exm2268766 1 154688197 [T/C] NM_170782,NM_001204087,NM_002249 KCNN3,KCNN3,KCNN3 Silent,Silent,Silent exm104742 1 154705480 [A/G] NM_170782,NM_001204087,NM_002249 KCNN3,KCNN3,KCNN3 EXON Missense_M225T,Missense_M545T,Missense_M530T exm-rs13376333 1 154814353 [T/C] NM_170782,NM_001204087,NM_002249 KCNN3,KCNN3,KCNN3 Silent,Silent,Silent exm104761 1 154832178 [T/G] NM_170782,NM_001204087,NM_002249 KCNN3,KCNN3,KCNN3 EXON Missense_P4H,Silent,Silent exm104777 1 154842034 [A/G] NM_001204087,NM_002249 KCNN3,KCNN3 EXON Missense_L136S,Missense_L136S exm104812 1 154898881 [T/C] NM_006556 PMVK EXON Missense_V131I exm2249976 1 154898894 [T/C] NM_006556 PMVK EXON Synonymous_T126T exm104817 1 154898899 [T/C] NM_006556 PMVK EXON Missense_V125M exm104819 1 154898917 [A/G] NM_006556 PMVK EXON Missense_R119W exm104820 1 154898943 [T/C] NM_006556 PMVK EXON Missense_R110Q exm104822 1 154901525 [A/G] NM_006556 PMVK EXON Missense_V96A exm104823 1 154901589 [C/G] NM_006556 PMVK EXON Missense_D75H exm104825 1 154904833 [A/C] NM_006556 PMVK EXON Missense_A52S exm104827 1 154904863 [A/G] NM_006556 PMVK EXON Missense_R42W exm1716607 1 154918182 [G/C] NM_020524 PBXIP1 EXON Missense_F656L exm104846 1 154918187 [A/G] NM_020524 PBXIP1 EXON Missense_R655C exm104849 1 154918277 [A/G] NM_020524 PBXIP1 EXON Missense_R625W exm104853 1 154918369 [T/C] NM_020524 PBXIP1 EXON Missense_C594Y exm2231389 1 154918474 [T/C] NM_020524 PBXIP1 EXON Missense_R559Q exm104858 1 154918522 [T/C] NM_020524 PBXIP1 EXON Missense_R543K exm104869 1 154918798 [A/C] NM_020524 PBXIP1 EXON Missense_G451V exm1716612 1 154918939 [A/T] NM_020524 PBXIP1 EXON Missense_L404Q exm104878 1 154919080 [T/C] NM_020524 PBXIP1 EXON Missense_G357D exm104885 1 154919209 [T/C] NM_020524 PBXIP1 EXON Missense_R314Q exm104904 1 154920167 [T/C] NM_020524 PBXIP1 EXON Missense_R230Q exm104908 1 154920648 [A/C] NM_020524 PBXIP1 EXON Missense_A202S exm104909 1 154920687 [T/C] NM_020524 PBXIP1 EXON Missense_G189R exm104916 1 154920765 [A/G] NM_020524 PBXIP1 EXON Missense_R163W exm104923 1 154920822 [A/G] NM_020524 PBXIP1 EXON Missense_R144C exm104933 1 154924307 [T/C] NM_020524 PBXIP1 EXON Missense_D48N exm104962 1 154931757 [T/A] NM_138300 PYGO2 EXON Missense_N240I exm104995 1 154936389 [A/G] NM_001202859,NM_183001,NM_003029,NM_001130040,NM_001130041 SHC1,SHC1,SHC1,SHC1,SHC1 EXON Missense_R393C,Missense_R548C,Missense_R439C,Missense_R549C,Missense_R438C exm105011 1 154938215 [A/G] NM_001202859,NM_183001,NM_003029,NM_001130040,NM_001130041 SHC1,SHC1,SHC1,SHC1,SHC1 EXON Missense_S321L,Missense_S476L,Missense_S367L,Missense_S477L,Missense_S366L exm105018 1 154938454 [T/C] NM_001202859,NM_183001,NM_003029,NM_001130040,NM_001130041 SHC1,SHC1,SHC1,SHC1,SHC1 EXON Missense_N296S,Missense_N451S,Missense_N342S,Missense_N452S,Missense_N341S exm105023 1 154938662 [T/C] NM_001202859,NM_183001,NM_003029,NM_001130040,NM_001130041 SHC1,SHC1,SHC1,SHC1,SHC1 EXON Missense_M255V,Missense_M410V,Missense_M300V,Missense_M410V,Missense_M300V exm105045 1 154941066 [T/C] NM_001202859,NM_183001,NM_003029,NM_001130040,NM_001130041 SHC1,SHC1,SHC1,SHC1,SHC1 EXON Missense_I64V,Missense_I219V,Missense_I109V,Missense_I219V,Missense_I109V exm105046 1 154941077 [A/G] NM_001202859,NM_183001,NM_003029,NM_001130040,NM_001130041 SHC1,SHC1,SHC1,SHC1,SHC1 EXON Missense_P60L,Missense_P215L,Missense_P105L,Missense_P215L,Missense_P105L exm105049 1 154941263 [A/G] NM_001202859,NM_183001,NM_003029,NM_001130040,NM_001130041 SHC1,SHC1,SHC1,SHC1,SHC1 EXON Missense_A50V,Missense_A205V,Missense_A95V,Missense_A205V,Missense_A95V exm105062 1 154942785 [A/G] NM_001202859,NM_183001,NM_003029,NM_001130040,NM_001130041 SHC1,SHC1,SHC1,SHC1,SHC1 EXON Silent,Missense_P73L,Silent,Missense_P73L,Silent exm1716677 1 154942861 [A/G] NM_001202859,NM_183001,NM_003029,NM_001130040,NM_001130041 SHC1,SHC1,SHC1,SHC1,SHC1 EXON Silent,Missense_P48S,Silent,Missense_P48S,Silent exm105066 1 154942911 [A/G] NM_001202859,NM_183001,NM_003029,NM_001130040,NM_001130041 SHC1,SHC1,SHC1,SHC1,SHC1 EXON Silent,Missense_P31L,Silent,Missense_P31L,Silent exm105083 1 154956267 [A/G] NM_001184892,NM_001184891,NM_025207,NM_201398 FLAD1,FLAD1,FLAD1,FLAD1 EXON Silent,Silent,Missense_G33R,Silent exm105089 1 154956373 [A/G] NM_001184892,NM_001184891,NM_025207,NM_201398 FLAD1,FLAD1,FLAD1,FLAD1 EXON Silent,Silent,Missense_D68G,Silent exm2231397 1 154960524 [A/T] NM_001184892,NM_001184891,NM_025207,NM_201398 FLAD1,FLAD1,FLAD1,FLAD1 EXON Missense_T7S,Silent,Silent,Silent exm105097 1 154960651 [A/G] NM_001184892,NM_001184891,NM_025207,NM_201398 FLAD1,FLAD1,FLAD1,FLAD1 EXON Missense_R49Q,Missense_R51Q,Missense_R148Q,Missense_R51Q exm105101 1 154960848 [A/G] NM_001184892,NM_001184891,NM_025207,NM_201398 FLAD1,FLAD1,FLAD1,FLAD1 EXON Missense_G115R,Missense_G117R,Missense_G214R,Missense_G117R exm105107 1 154960891 [A/G] NM_001184892,NM_001184891,NM_025207,NM_201398 FLAD1,FLAD1,FLAD1,FLAD1 EXON Missense_R129H,Missense_R131H,Missense_R228H,Missense_R131H exm105112 1 154960953 [T/C] NM_001184892,NM_001184891,NM_025207,NM_201398 FLAD1,FLAD1,FLAD1,FLAD1 EXON Nonsense_R150X,Nonsense_R152X,Nonsense_R249X,Nonsense_R152X exm105114 1 154960995 [T/C] NM_001184892,NM_001184891,NM_025207,NM_201398 FLAD1,FLAD1,FLAD1,FLAD1 EXON Missense_R164W,Missense_R166W,Missense_R263W,Missense_R166W exm105116 1 154961011 [T/G] NM_001184892,NM_001184891,NM_025207,NM_201398 FLAD1,FLAD1,FLAD1,FLAD1 EXON Missense_M169R,Missense_M171R,Missense_M268R,Missense_M171R exm1716699 1 154961125 [A/G] NM_001184892,NM_001184891,NM_025207,NM_201398 FLAD1,FLAD1,FLAD1,FLAD1 EXON Missense_R207H,Missense_R209H,Missense_R306H,Missense_R209H exm105120 1 154961153 [A/C] NM_001184892,NM_001184891,NM_025207,NM_201398 FLAD1,FLAD1,FLAD1,FLAD1 EXON Missense_D216E,Missense_D218E,Missense_D315E,Missense_D218E exm105124 1 154961241 [T/C] NM_001184892,NM_001184891,NM_025207,NM_201398 FLAD1,FLAD1,FLAD1,FLAD1 EXON Missense_R246C,Missense_R248C,Missense_R345C,Missense_R248C exm105135 1 154962102 [A/G] NM_001184891,NM_025207,NM_201398 FLAD1,FLAD1,FLAD1 EXON Missense_S298N,Missense_S395N,Missense_S298N exm105138 1 154962678 [T/C] NM_001184891,NM_025207,NM_201398 FLAD1,FLAD1,FLAD1 EXON Missense_R340C,Missense_R437C,Missense_R340C exm105139 1 154962679 [A/G] NM_001184891,NM_025207,NM_201398 FLAD1,FLAD1,FLAD1 EXON Missense_R340H,Missense_R437H,Missense_R340H exm1716708 1 154962945 [T/C] NM_001184891,NM_025207,NM_201398 FLAD1,FLAD1,FLAD1 EXON Missense_C402R,Missense_C499R,Missense_C402R exm105158 1 154965223 [A/G] NM_001184891,NM_025207,NM_201398 FLAD1,FLAD1,FLAD1 EXON Missense_R433H,Missense_R530H,Missense_R433H exm105159 1 154965244 [G/C] NM_001184891,NM_025207,NM_201398 FLAD1,FLAD1,FLAD1 EXON Missense_C440S,Missense_C537S,Missense_C440S exm105168 1 154966093 [T/C] NM_018655 LENEP EXON Missense_R4W exm105177 1 154966255 [A/G] NM_018655 LENEP EXON Missense_E58K exm105185 1 154987341 [A/G] NR_049765,NM_001256455,NR_045515,NR_046206,NM_001252406 ZBTB7B,ZBTB7B,ZBTB7B,ZBTB7B,ZBTB7B EXON Silent,Missense_G69R,Silent,Silent,Missense_G103R exm105187 1 154987368 [A/G] NR_049765,NM_001256455,NR_045515,NR_046206,NM_001252406 ZBTB7B,ZBTB7B,ZBTB7B,ZBTB7B,ZBTB7B EXON Silent,Missense_G78R,Silent,Silent,Missense_G112R exm105208 1 154987704 [T/C] NR_049765,NM_001256455,NR_045515,NR_046206,NM_001252406 ZBTB7B,ZBTB7B,ZBTB7B,ZBTB7B,ZBTB7B EXON Silent,Missense_P190S,Silent,Silent,Missense_P224S exm105226 1 154987947 [A/G] NR_049765,NM_001256455,NR_045515,NR_046206,NM_001252406 ZBTB7B,ZBTB7B,ZBTB7B,ZBTB7B,ZBTB7B EXON Silent,Missense_E271K,Silent,Silent,Missense_E305K exm105229 1 154987980 [A/C] NR_049765,NM_001256455,NR_045515,NR_046206,NM_001252406 ZBTB7B,ZBTB7B,ZBTB7B,ZBTB7B,ZBTB7B EXON Silent,Missense_L282M,Silent,Silent,Missense_L316M exm105233 1 154988019 [A/G] NR_049765,NM_001256455,NR_045515,NR_046206,NM_001252406 ZBTB7B,ZBTB7B,ZBTB7B,ZBTB7B,ZBTB7B EXON Silent,Missense_G295R,Silent,Silent,Missense_G329R exm105236 1 154988116 [A/C] NR_049765,NM_001256455,NR_045515,NR_046206,NM_001252406 ZBTB7B,ZBTB7B,ZBTB7B,ZBTB7B,ZBTB7B EXON Silent,Missense_A327E,Silent,Silent,Missense_A361E exm105257 1 154989025 [A/G] NR_049765,NM_001256455,NR_045515,NR_046206,NM_001252406 ZBTB7B,ZBTB7B,ZBTB7B,ZBTB7B,ZBTB7B EXON Silent,Missense_R495H,Silent,Silent,Missense_R529H exm105267 1 154991027 [A/G] NM_144622 DCST2 EXON Missense_P772L exm1716737 1 154991145 [T/G] NM_144622 DCST2 EXON Missense_P733T exm105282 1 154991226 [T/C] NM_144622 DCST2 EXON Missense_E706K exm105289 1 154995849 [T/G] NM_144622 DCST2 EXON Missense_D652A exm105296 1 154996326 [T/C] NM_144622 DCST2 EXON Missense_S618G exm105298 1 154996385 [T/G] NM_144622 DCST2 EXON Missense_Y598S exm105305 1 154996996 [T/C] NM_144622 DCST2 EXON Missense_R565Q exm2276897 1 154999056 [A/G] NM_144622 DCST2 EXON Missense_S493L exm105321 1 154999134 [T/C] NM_144622 DCST2 EXON Missense_R467H exm105324 1 154999189 [G/C] NM_144622 DCST2 EXON Missense_P449A exm105327 1 155001829 [T/C] NM_144622 DCST2 EXON Missense_E408K exm2249977 1 155002585 [A/G] NM_144622 DCST2 EXON Synonymous_H384H exm105339 1 155002634 [A/G] NM_144622 DCST2 EXON Missense_A368V exm105340 1 155002653 [A/G] NM_144622 DCST2 EXON Nonsense_R362X exm105343 1 155002921 [A/G] NM_144622 DCST2 EXON Missense_L336F exm105344 1 155002938 [A/G] NM_144622 DCST2 EXON Missense_T330M exm105345 1 155002968 [T/C] NM_144622 DCST2 EXON Missense_R320Q exm105347 1 155002999 [T/C] NM_144622 DCST2 EXON Missense_E310K exm105348 1 155003000 [A/G] NM_144622 DCST2 EXON Synonymous_H309H exm105349 1 155003017 [T/C] NM_144622 DCST2 EXON Missense_V304I exm105356 1 155003663 [A/G] NM_144622 DCST2 EXON Missense_R263C exm1716769 1 155004049 [T/C] NM_144622 DCST2 Silent exm105364 1 155004182 [T/C] NM_144622 DCST2 EXON Missense_G203S exm1716776 1 155004236 [A/G] NM_144622 DCST2 EXON Missense_R185W exm105368 1 155005167 [T/C] NM_144622 DCST2 EXON Missense_I173V exm105377 1 155005584 [T/C] NM_144622 DCST2 EXON Missense_K142R exm105381 1 155005606 [T/C] NM_144622 DCST2 EXON Missense_A135T exm105387 1 155005719 [A/G] NM_144622 DCST2 EXON Missense_L97S exm105395 1 155006015 [A/C] NM_144622 DCST2 EXON Missense_C55G exm105406 1 155006099 [T/C] NM_144622 DCST2 EXON Missense_V27M exm2275494 1 155006141 [G/C] NM_144622 DCST2 EXON Missense_G13R exm1716791 1 155007165 [A/G] NM_152494,NM_001143687 DCST1,DCST1 EXON Missense_Y75C,Silent exm105426 1 155007181 [T/G] NM_152494,NM_001143687 DCST1,DCST1 EXON Missense_I80M,Silent exm1716792 1 155007194 [A/G] NM_152494,NM_001143687 DCST1,DCST1 EXON Missense_S85G,Silent exm105432 1 155011917 [T/C] NM_152494,NM_001143687 DCST1,DCST1 EXON Missense_R101C,Missense_R76C exm105435 1 155012002 [A/T] NM_152494,NM_001143687 DCST1,DCST1 EXON Missense_Y129F,Missense_Y104F exm105438 1 155013020 [A/G] NM_152494,NM_001143687 DCST1,DCST1 EXON Missense_V151M,Missense_V126M exm105439 1 155013042 [T/C] NM_152494,NM_001143687 DCST1,DCST1 EXON Missense_T158I,Missense_T133I exm105442 1 155013056 [T/C] NM_152494,NM_001143687 DCST1,DCST1 EXON Missense_R163C,Missense_R138C exm105446 1 155013903 [T/C] NM_152494,NM_001143687 DCST1,DCST1 EXON Missense_R188W,Missense_R163W exm1716805 1 155014223 [A/G] NM_152494,NM_001143687 DCST1,DCST1 EXON Missense_R261H,Missense_R236H exm105465 1 155015228 [T/C] NM_152494,NM_001143687 DCST1,DCST1 EXON Missense_R304C,Missense_R279C exm105470 1 155015333 [A/G] NM_152494,NM_001143687 DCST1,DCST1 Silent,Silent exm1716810 1 155015844 [A/G] NM_152494,NM_001143687 DCST1,DCST1 EXON Missense_G344E,Missense_G319E exm105485 1 155015906 [T/C] NM_152494,NM_001143687 DCST1,DCST1 EXON Missense_R365C,Missense_R340C exm105490 1 155015986 [A/G] NM_152494,NM_001143687 DCST1,DCST1 Silent,Silent exm105491 1 155018436 [T/C] NM_152494,NM_001143687,NR_040772,NR_040773 DCST1,DCST1,LOC100505666,LOC100505666 EXON Missense_F414L,Missense_F389L,Silent,Silent exm105495 1 155018836 [A/G] NM_152494,NM_001143687,NR_040772,NR_040773 DCST1,DCST1,LOC100505666,LOC100505666 EXON Missense_V457M,Missense_V432M,Silent,Silent exm105506 1 155019711 [T/C] NM_152494,NM_001143687,NR_040772,NR_040773 DCST1,DCST1,LOC100505666,LOC100505666 EXON Missense_M512T,Missense_M487T,Silent,Silent exm105507 1 155019720 [A/G] NM_152494,NM_001143687,NR_040772,NR_040773 DCST1,DCST1,LOC100505666,LOC100505666 EXON Missense_R515Q,Missense_R490Q,Silent,Silent exm105509 1 155019738 [T/C] NM_152494,NM_001143687,NR_040772,NR_040773 DCST1,DCST1,LOC100505666,LOC100505666 EXON Missense_I521T,Missense_I496T,Silent,Silent exm105524 1 155020629 [T/C] NM_152494,NM_001143687,NR_040772,NR_040773 DCST1,DCST1,LOC100505666,LOC100505666 EXON Nonsense_R618X,Nonsense_R593X,Silent,Silent exm105526 1 155020645 [T/C] NM_152494,NM_001143687,NR_040772,NR_040773 DCST1,DCST1,LOC100505666,LOC100505666 EXON Missense_P623L,Missense_P598L,Silent,Silent exm2231407 1 155025186 [T/C] NR_040773,NM_207194,NM_001261464,NM_001261465,NM_207191,NM_207195,NR_048577,NM_207197,NR_048578,NM_207196,NM_003815,NR_048579,NM_001261466 LOC100505666,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15 EXON Silent,Missense_P40L,Missense_P50L,Missense_P40L,Missense_P40L,Missense_P40L,Silent,Missense_P40L,Silent,Missense_P40L,Missense_P40L,Silent,Nonsense_R50X exm105539 1 155025894 [C/G] NR_040773,NM_207194,NM_001261464,NM_001261465,NM_207191,NM_207195,NR_048577,NM_207197,NR_048578,NM_207196,NM_003815,NR_048579,NM_001261466 LOC100505666,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15 EXON Silent,Missense_T63S,Missense_T73S,Missense_T63S,Missense_T63S,Missense_T63S,Silent,Missense_T63S,Silent,Missense_T63S,Missense_T63S,Silent,Silent exm105541 1 155025945 [T/A] NR_040773,NM_207194,NM_001261464,NM_001261465,NM_207191,NM_207195,NR_048577,NM_207197,NR_048578,NM_207196,NM_003815,NR_048579,NM_001261466 LOC100505666,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15 EXON Silent,Missense_H80L,Missense_H90L,Missense_H80L,Missense_H80L,Missense_H80L,Silent,Missense_H80L,Silent,Missense_H80L,Missense_H80L,Silent,Silent exm105546 1 155026438 [T/C] NR_040773,NM_207194,NM_001261464,NM_001261465,NM_207191,NM_207195,NR_048577,NM_207197,NR_048578,NM_207196,NM_003815,NR_048579,NM_001261466 LOC100505666,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15 EXON Silent,Missense_R106W,Missense_R116W,Missense_R106W,Missense_R106W,Missense_R106W,Silent,Missense_R106W,Silent,Missense_R106W,Missense_R106W,Silent,Missense_R90W exm105552 1 155026654 [A/G] NR_040773,NM_207194,NM_001261464,NM_001261465,NM_207191,NM_207195,NR_048577,NM_207197,NR_048578,NM_207196,NM_003815,NR_048579,NM_001261466 LOC100505666,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15 EXON Silent,Missense_R124Q,Missense_R134Q,Missense_R124Q,Missense_R124Q,Missense_R124Q,Silent,Missense_R124Q,Silent,Missense_R124Q,Missense_R124Q,Silent,Missense_R108Q exm105555 1 155026798 [T/G] NR_040773,NM_207194,NM_001261464,NM_001261465,NM_207191,NM_207195,NR_048577,NM_207197,NR_048578,NM_207196,NM_003815,NR_048579,NM_001261466 LOC100505666,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15 EXON Silent,Missense_V143G,Missense_V153G,Missense_V143G,Missense_V143G,Missense_V143G,Silent,Missense_V143G,Silent,Missense_V143G,Missense_V143G,Silent,Missense_V127G exm105564 1 155026942 [A/C] NR_040773,NM_207194,NM_001261464,NM_001261465,NM_207191,NM_207195,NR_048577,NM_207197,NR_048578,NM_207196,NM_003815,NR_048579,NM_001261466 LOC100505666,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15 EXON Silent,Missense_K191T,Missense_K201T,Missense_K191T,Missense_K191T,Missense_K191T,Silent,Missense_K191T,Silent,Missense_K191T,Missense_K191T,Silent,Missense_K175T exm2249978 1 155026952 [A/G] NR_040773,NM_207194,NM_001261464,NM_001261465,NM_207191,NM_207195,NR_048577,NM_207197,NR_048578,NM_207196,NM_003815,NR_048579,NM_001261466 LOC100505666,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15 EXON Silent,Synonymous_E194E,Synonymous_E204E,Synonymous_E194E,Synonymous_E194E,Synonymous_E194E,Silent,Synonymous_E194E,Silent,Synonymous_E194E,Synonymous_E194E,Silent,Synonymous_E178E exm105575 1 155028450 [A/C] NR_040773,NM_207194,NM_001261464,NM_001261465,NM_207191,NM_207195,NR_048577,NM_207197,NR_048578,NM_207196,NM_003815,NR_048579,NM_001261466 LOC100505666,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15 EXON Silent,Missense_L240M,Missense_L250M,Missense_L240M,Missense_L240M,Missense_L240M,Silent,Missense_L240M,Silent,Missense_L240M,Missense_L240M,Silent,Missense_L224M exm105581 1 155028614 [A/G] NR_040773,NM_207194,NM_001261464,NM_001261465,NM_207191,NM_207195,NR_048577,NM_207197,NR_048578,NM_207196,NM_003815,NR_048579,NM_001261466 LOC100505666,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15 EXON Silent,Missense_R268H,Missense_R278H,Missense_R268H,Missense_R268H,Missense_R268H,Silent,Missense_R268H,Silent,Missense_R268H,Missense_R268H,Silent,Missense_R252H exm105584 1 155028692 [T/C] NR_040773,NM_207194,NM_001261464,NM_001261465,NM_207191,NM_207195,NR_048577,NM_207197,NR_048578,NM_207196,NM_003815,NR_048579,NM_001261466 LOC100505666,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15 EXON Silent,Missense_P294L,Missense_P304L,Missense_P294L,Missense_P294L,Missense_P294L,Silent,Missense_P294L,Silent,Missense_P294L,Missense_P294L,Silent,Missense_P278L exm105585 1 155028713 [T/C] NR_040773,NM_207194,NM_001261464,NM_001261465,NM_207191,NM_207195,NR_048577,NM_207197,NR_048578,NM_207196,NM_003815,NR_048579,NM_001261466 LOC100505666,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15 EXON Silent,Missense_A301V,Missense_A311V,Missense_A301V,Missense_A301V,Missense_A301V,Silent,Missense_A301V,Silent,Missense_A301V,Missense_A301V,Silent,Missense_A285V exm105597 1 155029702 [A/G] NR_040773,NM_207194,NM_001261464,NM_001261465,NM_207191,NM_207195,NR_048577,NM_207197,NR_048578,NM_207196,NM_003815,NR_048579,NM_001261466 LOC100505666,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15 EXON Silent,Missense_R396Q,Missense_R406Q,Missense_R396Q,Missense_R396Q,Missense_R396Q,Silent,Missense_R396Q,Silent,Missense_R396Q,Missense_R396Q,Silent,Missense_R380Q exm105602 1 155029773 [A/C] NR_040773,NM_207194,NM_001261464,NM_001261465,NM_207191,NM_207195,NR_048577,NM_207197,NR_048578,NM_207196,NM_003815,NR_048579,NM_001261466 LOC100505666,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15 EXON Silent,Missense_M420L,Missense_M430L,Missense_M420L,Missense_M420L,Missense_M420L,Silent,Missense_M420L,Silent,Missense_M420L,Missense_M420L,Silent,Missense_M404L exm105612 1 155030330 [T/C] NR_040773,NM_207194,NM_001261464,NM_001261465,NM_207191,NM_207195,NR_048577,NM_207197,NR_048578,NM_207196,NM_003815,NR_048579,NM_001261466 LOC100505666,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15 EXON Silent,Missense_R474C,Missense_R484C,Missense_R474C,Missense_R474C,Missense_R474C,Silent,Missense_R474C,Silent,Missense_R474C,Missense_R474C,Silent,Missense_R458C exm1716856 1 155030352 [A/G] NR_040773,NM_207194,NM_001261464,NM_001261465,NM_207191,NM_207195,NR_048577,NM_207197,NR_048578,NM_207196,NM_003815,NR_048579,NM_001261466 LOC100505666,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15 EXON Silent,Missense_R481H,Missense_R491H,Missense_R481H,Missense_R481H,Missense_R481H,Silent,Missense_R481H,Silent,Missense_R481H,Missense_R481H,Silent,Missense_R465H exm105614 1 155030364 [A/G] NR_040773,NM_207194,NM_001261464,NM_001261465,NM_207191,NM_207195,NR_048577,NM_207197,NR_048578,NM_207196,NM_003815,NR_048579,NM_001261466 LOC100505666,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15 EXON Silent,Missense_G485E,Missense_G495E,Missense_G485E,Missense_G485E,Missense_G485E,Silent,Missense_G485E,Silent,Missense_G485E,Missense_G485E,Silent,Missense_G469E exm105621 1 155030534 [A/G] NR_040773,NM_207194,NM_001261464,NM_001261465,NM_207191,NM_207195,NR_048577,NM_207197,NR_048578,NM_207196,NM_003815,NR_048579,NM_001261466 LOC100505666,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15 EXON Silent,Missense_A542T,Missense_A552T,Missense_A542T,Missense_A542T,Missense_A542T,Silent,Missense_A542T,Silent,Missense_A542T,Missense_A542T,Silent,Missense_A526T exm105622 1 155030538 [T/C] NR_040773,NM_207194,NM_001261464,NM_001261465,NM_207191,NM_207195,NR_048577,NM_207197,NR_048578,NM_207196,NM_003815,NR_048579,NM_001261466 LOC100505666,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15 EXON Silent,Missense_A543V,Missense_A553V,Missense_A543V,Missense_A543V,Missense_A543V,Silent,Missense_A543V,Silent,Missense_A543V,Missense_A543V,Silent,Missense_A527V exm105625 1 155030595 [A/G] NR_040773,NM_207194,NM_001261464,NM_001261465,NM_207191,NM_207195,NR_048577,NM_207197,NR_048578,NM_207196,NM_003815,NR_048579,NM_001261466 LOC100505666,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15 EXON Silent,Missense_R562H,Missense_R572H,Missense_R562H,Missense_R562H,Missense_R562H,Silent,Missense_R562H,Silent,Missense_R562H,Missense_R562H,Silent,Missense_R546H exm105626 1 155030599 [A/C] NR_040773,NM_207194,NM_001261464,NM_001261465,NM_207191,NM_207195,NR_048577,NM_207197,NR_048578,NM_207196,NM_003815,NR_048579,NM_001261466 LOC100505666,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15 EXON Silent,Missense_N563K,Missense_N573K,Missense_N563K,Missense_N563K,Missense_N563K,Silent,Missense_N563K,Silent,Missense_N563K,Missense_N563K,Silent,Missense_N547K exm-rs12023499 1 155031376 [T/C] NR_040773,NM_207194,NM_001261464,NM_001261465,NM_207191,NM_207195,NR_048577,NM_207197,NR_048578,NM_207196,NM_003815,NR_048579 LOC100505666,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm105640 1 155032752 [A/G] NR_040773,NM_207194,NM_001261464,NM_001261465,NM_207191,NM_207195,NR_048577,NM_207197,NR_048578,NM_207196,NM_003815,NR_048579 LOC100505666,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15 EXON Silent,Missense_S714G,Missense_S724G,Missense_S714G,Missense_S714G,Missense_S714G,Silent,Missense_S714G,Silent,Missense_S714G,Missense_S714G,Silent exm105644 1 155032806 [A/C] NR_040773,NM_207194,NM_001261464,NM_001261465,NM_207191,NM_207195,NR_048577,NM_207197,NR_048578,NM_207196,NM_003815,NR_048579 LOC100505666,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15 EXON Silent,Missense_T732P,Missense_T742P,Missense_T732P,Missense_T732P,Missense_T732P,Silent,Missense_T732P,Silent,Missense_T732P,Missense_T732P,Silent exm105645 1 155032818 [A/C] NR_040773,NM_207194,NM_001261464,NM_001261465,NM_207191,NM_207195,NR_048577,NM_207197,NR_048578,NM_207196,NM_003815,NR_048579 LOC100505666,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15 EXON Silent,Synonymous_R736R,Synonymous_R746R,Synonymous_R736R,Missense_S736R,Synonymous_R736R,Silent,Synonymous_R736R,Silent,Synonymous_R736R,Synonymous_R736R,Silent exm105654 1 155033308 [A/G] NR_040773,NM_207194,NM_001261464,NM_001261465,NM_207191,NM_207195,NR_048577,NM_207197,NR_048578,NM_207196,NM_003815,NR_048579 LOC100505666,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15 EXON Silent,Synonymous_K759K,Synonymous_K769K,Silent,Silent,Synonymous_K759K,Silent,Synonymous_K759K,Silent,Synonymous_K759K,Synonymous_K759K,Silent exm105657 1 155033913 [T/C] NR_040773,NM_207194,NM_001261464,NM_001261465,NM_207191,NM_207195,NR_048577,NM_207197,NR_048578,NM_207196,NM_003815,NR_048579 LOC100505666,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15 EXON Silent,Missense_P767L,Silent,Missense_R743W,Silent,Silent,Silent,Missense_P767L,Silent,Missense_P766L,Silent,Silent exm105658 1 155033918 [T/C] NR_040773,NM_207194,NM_001261464,NM_001261465,NM_207191,NM_207195,NR_048577,NM_207197,NR_048578,NM_207196,NM_003815,NR_048579 LOC100505666,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15 EXON Silent,Missense_P769S,Silent,Synonymous_P744P,Silent,Silent,Silent,Missense_P769S,Silent,Missense_P768S,Silent,Silent exm2275495 1 155033921 [A/C] NR_040773,NM_207194,NM_001261464,NM_001261465,NM_207191,NM_207195,NR_048577,NM_207197,NR_048578,NM_207196,NM_003815,NR_048579 LOC100505666,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15 EXON Silent,Missense_P770T,Silent,Synonymous_P745P,Silent,Silent,Silent,Missense_P770T,Silent,Missense_P769T,Silent,Silent exm105681 1 155039225 [G/C] NM_005227,NM_182689,NM_182690 EFNA4,EFNA4,EFNA4 EXON Missense_V45L,Missense_V45L,Missense_V45L exm105682 1 155039270 [T/C] NM_005227,NM_182689,NM_182690 EFNA4,EFNA4,EFNA4 EXON Missense_H60Y,Missense_H60Y,Missense_H60Y exm105694 1 155039441 [A/C] NM_005227,NM_182689,NM_182690 EFNA4,EFNA4,EFNA4 EXON Missense_P117T,Missense_P117T,Missense_P117T exm105696 1 155039849 [A/G] NM_005227,NM_182689,NM_182690 EFNA4,EFNA4,EFNA4 EXON Synonymous_S134S,Synonymous_S134S,Synonymous_S134S exm105701 1 155041330 [T/G] NM_005227,NM_182689,NM_182690 EFNA4,EFNA4,EFNA4 EXON Missense_K157N,Silent,Silent exm105707 1 155041449 [T/G] NM_005227,NM_182689,NM_182690 EFNA4,EFNA4,EFNA4 EXON Missense_L197R,Silent,Silent exm105709 1 155041477 [T/C] NM_005227,NM_182689,NM_182690 EFNA4,EFNA4,EFNA4 EXON Silent,Silent,Missense_L158F exm105710 1 155041489 [C/G] NM_005227,NM_182689,NM_182690 EFNA4,EFNA4,EFNA4 EXON Silent,Silent,Missense_P162A exm105711 1 155041499 [G/C] NM_005227,NM_182689,NM_182690 EFNA4,EFNA4,EFNA4 EXON Silent,Synonymous_A158A,Missense_P165R exm105716 1 155057650 [T/C] NM_004952 EFNA3 EXON Missense_V71A exm105734 1 155058663 [A/G] NM_004952 EFNA3 EXON Missense_V190M exm105736 1 155058887 [A/C] NM_004952 EFNA3 Silent exm105739 1 155058957 [T/C] NM_004952 EFNA3 EXON Missense_R219W exm105745 1 155103819 [T/C] NM_182685,NM_004428 EFNA1,EFNA1 EXON Missense_R33W,Missense_R33W exm1716946 1 155103842 [A/T] NM_182685,NM_004428 EFNA1,EFNA1 EXON Missense_H40Q,Missense_H40Q exm105764 1 155106227 [T/A] NM_182685,NM_004428 EFNA1,EFNA1 EXON Missense_D137V,Missense_D159V exm105766 1 155106446 [A/G] NM_182685,NM_004428 EFNA1,EFNA1 EXON Missense_R152Q,Missense_R174Q exm2273337 1 155106697 [A/G] NM_182685,NM_004428 EFNA1,EFNA1 EXON Silent,Silent exm105778 1 155108404 [T/A] NM_018845,NM_001122839,NM_001122837 SLC50A1,SLC50A1,SLC50A1 EXON Missense_F6Y,Missense_F6Y,Silent exm105786 1 155110127 [T/C] NM_018845,NM_001122839,NM_001122837 SLC50A1,SLC50A1,SLC50A1 EXON Missense_R125W,Silent,Missense_R70W exm105792 1 155110700 [G/C] NM_018845,NM_001122839,NM_001122837 SLC50A1,SLC50A1,SLC50A1 EXON Missense_W203C,Missense_W149C,Missense_W148C exm105809 1 155145097 [T/C] NM_173852 KRTCAP2 EXON Missense_N82S exm1717035 1 155148462 [T/C] NR_046327,NM_001256599,NM_001256600,NR_046328,NM_025058,NR_046329,NM_001256601 TRIM46,TRIM46,TRIM46,TRIM46,TRIM46,TRIM46,TRIM46 EXON Silent,Missense_R119W,Missense_R129W,Silent,Missense_R142W,Silent,Missense_R129W exm105846 1 155148520 [A/G] NR_046327,NM_001256599,NM_001256600,NR_046328,NM_025058,NR_046329,NM_001256601 TRIM46,TRIM46,TRIM46,TRIM46,TRIM46,TRIM46,TRIM46 EXON Silent,Missense_R138H,Missense_R148H,Silent,Missense_R161H,Silent,Missense_R148H exm105860 1 155150593 [A/G] NR_046327,NM_001256599,NM_001256600,NR_046328,NM_025058,NR_046329,NM_001256601 TRIM46,TRIM46,TRIM46,TRIM46,TRIM46,TRIM46,TRIM46 EXON Silent,Missense_R319Q,Missense_R300Q,Silent,Missense_R342Q,Silent,Missense_R329Q exm105862 1 155150602 [A/G] NR_046327,NM_001256599,NM_001256600,NR_046328,NM_025058,NR_046329,NM_001256601 TRIM46,TRIM46,TRIM46,TRIM46,TRIM46,TRIM46,TRIM46 EXON Silent,Missense_R322H,Missense_R303H,Silent,Missense_R345H,Silent,Missense_R332H exm105873 1 155151048 [G/C] NR_046327,NM_001256599,NM_001256600,NR_046328,NM_025058,NR_046329,NM_001256601 TRIM46,TRIM46,TRIM46,TRIM46,TRIM46,TRIM46,TRIM46 EXON Silent,Missense_G392A,Missense_G373A,Silent,Missense_G415A,Silent,Missense_G402A exm105923 1 155158634 [G/C] NM_001204293,NM_001044392,NM_001018017,NM_001204295,NM_001044390,NM_001204296,NM_001204285,NM_001044391,NM_001044393,NM_001204286,NM_001204290,NM_001204287,NM_001204292,NM_001204297,NM_002456,NM_001204294,NM_001018016,NM_001204291,NM_001204288,NM_001204289 MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1 EXON Silent,Missense_A153P,Missense_A249P,Missense_A183P,Missense_A197P,Missense_A206P,Missense_A469P,Missense_A144P,Silent,Missense_A478P,Missense_A211P,Missense_A276P,Missense_A233P,Missense_A171P,Missense_A267P,Missense_A224P,Missense_A258P,Missense_A235P,Silent,Missense_A232P exm1717066 1 155159944 [T/C] NM_001204293,NM_001044392,NM_001018017,NM_001204295,NM_001044390,NM_001204296,NM_001204285,NM_001044391,NM_001044393,NM_001204286,NM_001204290,NM_001204287,NM_001204292,NM_001204297,NM_002456,NM_001204294,NM_001018016,NM_001204291,NM_001204288,NM_001204289 MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1 EXON Silent,Silent,Missense_Y177C,Missense_Y111C,Missense_Y125C,Missense_Y134C,Missense_Y397C,Silent,Synonymous_L114L,Missense_Y406C,Missense_Y139C,Missense_Y204C,Missense_Y161C,Silent,Missense_Y195C,Missense_Y152C,Missense_Y186C,Missense_Y163C,Synonymous_L175L,Missense_Y160C exm105931 1 155159955 [A/C] NM_001204293,NM_001044392,NM_001018017,NM_001204295,NM_001044390,NM_001204296,NM_001204285,NM_001044391,NM_001044393,NM_001204286,NM_001204290,NM_001204287,NM_001204292,NM_001204297,NM_002456,NM_001204294,NM_001018016,NM_001204291,NM_001204288,NM_001204289 MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1 EXON Silent,Silent,Synonymous_L173L,Synonymous_L107L,Synonymous_L121L,Synonymous_L130L,Synonymous_L393L,Silent,Missense_G111C,Synonymous_L402L,Synonymous_L135L,Synonymous_L200L,Synonymous_L157L,Silent,Synonymous_L191L,Synonymous_L148L,Synonymous_L182L,Synonymous_L159L,Missense_G172C,Synonymous_L156L exm105936 1 155160049 [T/C] NM_001204293,NM_001044392,NM_001018017,NM_001204295,NM_001044390,NM_001204296,NM_001204285,NM_001044391,NM_001044393,NM_001204286,NM_001204290,NM_001204287,NM_001204292,NM_001204297,NM_002456,NM_001204294,NM_001018016,NM_001204291,NM_001204288,NM_001204289 MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1 EXON Silent,Silent,Missense_S142N,Silent,Missense_S90N,Missense_S99N,Missense_S362N,Silent,Silent,Missense_S371N,Missense_S104N,Missense_S169N,Missense_S126N,Silent,Missense_S160N,Missense_S117N,Missense_S151N,Missense_S128N,Silent,Missense_S125N exm105939 1 155160270 [T/C] NM_001204293,NM_001044392,NM_001018017,NM_001204295,NM_001044390,NM_001204296,NM_001204285,NM_001044391,NM_001044393,NM_001204286,NM_001204290,NM_001204287,NM_001204292,NM_001204297,NM_002456,NM_001204294,NM_001018016,NM_001204291,NM_001204288,NM_001204289 MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1 EXON Missense_V135M,Silent,Missense_V117M,Silent,Silent,Silent,Missense_V337M,Silent,Silent,Missense_V346M,Missense_V79M,Missense_V144M,Missense_V101M,Silent,Missense_V135M,Missense_V92M,Missense_V126M,Missense_V103M,Missense_V126M,Missense_V100M exm105942 1 155160329 [A/C] NM_001204293,NM_001044392,NM_001018017,NM_001204295,NM_001044390,NM_001204296,NM_001204285,NM_001044391,NM_001044393,NM_001204286,NM_001204290,NM_001204287,NM_001204292,NM_001204297,NM_002456,NM_001204294,NM_001018016,NM_001204291,NM_001204288,NM_001204289 MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1 EXON Missense_G115V,Silent,Missense_G97V,Silent,Silent,Silent,Missense_G317V,Silent,Silent,Missense_G326V,Missense_G59V,Missense_G124V,Missense_G81V,Silent,Missense_G115V,Missense_G72V,Missense_G106V,Missense_G83V,Missense_G106V,Missense_G80V exm105955 1 155160813 [G/C] NM_001204293,NM_001044392,NM_001018017,NM_001204295,NM_001044390,NM_001204296,NM_001204285,NM_001044391,NM_001044393,NM_001204286,NM_001204290,NM_001204287,NM_001204292,NM_001204297,NM_002456,NM_001204294,NM_001018016,NM_001204291,NM_001204288,NM_001204289 MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_H238Q,Silent,Silent,Missense_H247Q,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm105956 1 155160941 [T/C] NM_001204293,NM_001044392,NM_001018017,NM_001204295,NM_001044390,NM_001204296,NM_001204285,NM_001044391,NM_001044393,NM_001204286,NM_001204290,NM_001204287,NM_001204292,NM_001204297,NM_002456,NM_001204294,NM_001018016,NM_001204291,NM_001204288,NM_001204289 MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_G196S,Silent,Silent,Missense_G205S,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm105968 1 155162050 [A/C] NM_001204293,NM_001044392,NM_001018017,NM_001204295,NM_001044390,NM_001204296,NM_001204285,NM_001044391,NM_001044393,NM_001204286,NM_001204290,NM_001204287,NM_001204292,NM_001204297,NM_002456,NM_001204294,NM_001018016,NM_001204291,NM_001204288,NM_001204289 MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1 EXON Missense_S28I,Missense_S37I,Missense_S28I,Missense_S37I,Missense_S28I,Missense_S37I,Missense_S28I,Missense_S28I,Missense_S28I,Missense_S37I,Silent,Missense_S37I,Missense_S37I,Missense_S37I,Missense_S28I,Missense_S28I,Missense_S37I,Missense_S37I,Missense_S37I,Missense_S37I exm-rs4072037 1 155162067 [T/C] NM_001204293,NM_001044392,NM_001018017,NM_001204295,NM_001044390,NM_001204296,NM_001204285,NM_001044391,NM_001044393,NM_001204286,NM_001204290,NM_001204287,NM_001204292,NM_001204297,NM_002456,NM_001204294,NM_001018016,NM_001204291,NM_001204288,NM_001204289 MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1 EXON Synonymous_T22T,Synonymous_T31T,Synonymous_T22T,Synonymous_T31T,Synonymous_T22T,Synonymous_T31T,Synonymous_T22T,Synonymous_T22T,Synonymous_T22T,Synonymous_T31T,Silent,Synonymous_T31T,Synonymous_T31T,Synonymous_T31T,Synonymous_T22T,Synonymous_T22T,Synonymous_T31T,Synonymous_T31T,Synonymous_T31T,Synonymous_T31T exm105972 1 155162084 [G/C] NM_001204293,NM_001044392,NM_001018017,NM_001204295,NM_001044390,NM_001204296,NM_001204285,NM_001044391,NM_001044393,NM_001204286,NM_001204290,NM_001204287,NM_001204292,NM_001204297,NM_002456,NM_001204294,NM_001018016,NM_001204291,NM_001204288,NM_001204289 MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1 EXON Silent,Missense_P26A,Silent,Missense_P26A,Silent,Missense_P26A,Silent,Silent,Silent,Missense_P26A,Silent,Missense_P26A,Missense_P26A,Missense_P26A,Silent,Silent,Missense_P26A,Missense_P26A,Missense_P26A,Missense_P26A exm105973 1 155162102 [T/C] NM_001204293,NM_001044392,NM_001018017,NM_001204295,NM_001044390,NM_001204296,NM_001204285,NM_001044391,NM_001044393,NM_001204286,NM_001204290,NM_001204287,NM_001204292,NM_001204297,NM_002456,NM_001204294,NM_001018016,NM_001204291,NM_001204288,NM_001204289 MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm105993 1 155165892 [C/G] NM_001252608,NM_001252607,NR_045553,NM_007112 THBS3,THBS3,THBS3,THBS3 EXON Missense_L780V,Missense_L891V,Silent,Missense_L900V exm106010 1 155167337 [T/C] NM_001252608,NM_001252607,NR_045553,NM_007112 THBS3,THBS3,THBS3,THBS3 EXON Missense_V686I,Missense_V797I,Silent,Missense_V806I exm106019 1 155167435 [T/C] NM_001252608,NM_001252607,NR_045553,NM_007112 THBS3,THBS3,THBS3,THBS3 EXON Missense_N653S,Missense_N764S,Silent,Missense_N773S exm1717108 1 155169837 [A/G] NM_001252608,NM_001252607,NR_045553,NM_007112 THBS3,THBS3,THBS3,THBS3 EXON Synonymous_D472D,Synonymous_D583D,Silent,Synonymous_D592D exm106060 1 155170391 [T/C] NM_001252608,NM_001252607,NR_045553,NM_007112 THBS3,THBS3,THBS3,THBS3 EXON Missense_R400Q,Missense_R511Q,Silent,Missense_R520Q exm106061 1 155170392 [A/G] NM_001252608,NM_001252607,NR_045553,NM_007112 THBS3,THBS3,THBS3,THBS3 EXON Missense_R400W,Missense_R511W,Silent,Missense_R520W exm106068 1 155170989 [T/C] NM_001252608,NM_001252607,NR_045553,NM_007112 THBS3,THBS3,THBS3,THBS3 EXON Missense_V326M,Missense_V437M,Silent,Missense_V446M exm106076 1 155171810 [T/C] NM_001252608,NM_001252607,NR_045553,NM_007112 THBS3,THBS3,THBS3,THBS3 EXON Missense_D252N,Missense_D363N,Silent,Missense_D372N exm106082 1 155172066 [A/G] NM_001252608,NM_001252607,NR_045553,NM_007112 THBS3,THBS3,THBS3,THBS3 EXON Missense_R242W,Missense_R353W,Silent,Missense_R362W exm106083 1 155172080 [T/C] NM_001252608,NM_001252607,NR_045553,NM_007112 THBS3,THBS3,THBS3,THBS3 EXON Missense_G237D,Missense_G348D,Silent,Missense_G357D exm106091 1 155172629 [T/C] NM_001252608,NM_001252607,NR_045553,NM_007112 THBS3,THBS3,THBS3,THBS3 EXON Missense_G191S,Missense_G302S,Silent,Missense_G311S exm106093 1 155172725 [T/C] NM_001252608,NM_001252607,NR_045553,NM_007112 THBS3,THBS3,THBS3,THBS3 EXON Missense_S159G,Missense_S270G,Silent,Missense_S279G exm106126 1 155175089 [T/C] NM_001252608,NM_001252607,NR_045553,NM_007112 THBS3,THBS3,THBS3,THBS3 EXON Silent,Missense_R102Q,Silent,Missense_R102Q exm106132 1 155176044 [T/C] NM_001252608,NM_001252607,NR_045553,NM_007112 THBS3,THBS3,THBS3,THBS3 EXON Missense_R78H,Missense_R78H,Silent,Missense_R78H exm106134 1 155176080 [C/G] NM_001252608,NM_001252607,NR_045553,NM_007112 THBS3,THBS3,THBS3,THBS3 EXON Missense_P66R,Missense_P66R,Silent,Missense_P66R exm1717146 1 155177615 [A/C] NM_001252608,NM_001252607,NR_045553,NM_007112 THBS3,THBS3,THBS3,THBS3 EXON Missense_F18C,Missense_F18C,Silent,Missense_F18C exm106153 1 155178993 [G/C] NM_002455,NM_198883 MTX1,MTX1 EXON Missense_G133A,Missense_G133A exm106159 1 155180178 [C/G] NM_002455,NM_198883 MTX1,MTX1 EXON Missense_K190N,Missense_K190N exm2268767 1 155194980 [T/C] NR_002188 GBAP1 Silent exm106204 1 155205047 [T/C] NM_001005742,NM_001005741,NM_000157,NM_001171812,NM_001171811 GBA,GBA,GBA,GBA,GBA EXON Missense_D482N,Missense_D482N,Missense_D482N,Missense_D433N,Missense_D395N exm106213 1 155205581 [T/C] NM_001005742,NM_001005741,NM_000157,NM_001171812,NM_001171811 GBA,GBA,GBA,GBA,GBA EXON Missense_E427K,Missense_E427K,Missense_E427K,Missense_E378K,Missense_E340K exm106217 1 155205634 [T/C] NM_001005742,NM_001005741,NM_000157,NM_001171812,NM_001171811 GBA,GBA,GBA,GBA,GBA EXON Missense_N409S,Missense_N409S,Missense_N409S,Missense_N360S,Missense_N322S exm106220 1 155206037 [A/G] NM_001005742,NM_001005741,NM_000157,NM_001171812,NM_001171811 GBA,GBA,GBA,GBA,GBA EXON Missense_T408M,Missense_T408M,Missense_T408M,Missense_T359M,Missense_T321M exm106249 1 155209727 [T/C] NM_001005742,NM_001005741,NM_000157,NM_001171812,NM_001171811 GBA,GBA,GBA,GBA,GBA EXON Missense_R86Q,Missense_R86Q,Missense_R86Q,Missense_R86Q,Silent exm1717216 1 155210478 [T/C] NM_001005742,NM_001005741,NM_000157,NM_001171812,NM_001171811 GBA,GBA,GBA,GBA,GBA EXON Missense_I20V,Missense_I20V,Missense_I20V,Missense_I20V,Silent exm106266 1 155217631 [C/G] NM_006589,NM_001267608,NM_198264 FAM189B,FAM189B,FAM189B EXON Missense_R650P,Missense_R632P,Missense_R554P exm2275496 1 155217643 [T/C] NM_006589,NM_001267608,NM_198264 FAM189B,FAM189B,FAM189B EXON Missense_R646H,Missense_R628H,Missense_R550H exm106267 1 155217659 [A/G] NM_006589,NM_001267608,NM_198264 FAM189B,FAM189B,FAM189B EXON Missense_R641C,Missense_R623C,Missense_R545C exm106269 1 155217689 [T/C] NM_006589,NM_001267608,NM_198264 FAM189B,FAM189B,FAM189B EXON Missense_G631R,Missense_G613R,Missense_G535R exm106273 1 155217724 [T/C] NM_006589,NM_001267608,NM_198264 FAM189B,FAM189B,FAM189B EXON Missense_R619Q,Missense_R601Q,Missense_R523Q exm1717219 1 155217739 [T/C] NM_006589,NM_001267608,NM_198264 FAM189B,FAM189B,FAM189B EXON Missense_R614Q,Missense_R596Q,Missense_R518Q exm106276 1 155217906 [A/G] NM_006589,NM_001267608,NM_198264 FAM189B,FAM189B,FAM189B EXON Missense_R590C,Missense_R572C,Missense_R494C exm2231422 1 155217920 [T/C] NM_006589,NM_001267608,NM_198264 FAM189B,FAM189B,FAM189B EXON Missense_R585Q,Missense_R567Q,Missense_R489Q exm106284 1 155218034 [A/C] NM_006589,NM_001267608,NM_198264 FAM189B,FAM189B,FAM189B EXON Missense_R547L,Missense_R529L,Missense_R451L exm106286 1 155218067 [T/C] NM_006589,NM_001267608,NM_198264 FAM189B,FAM189B,FAM189B EXON Missense_R536H,Missense_R518H,Missense_R440H exm106288 1 155218074 [A/G] NM_006589,NM_001267608,NM_198264 FAM189B,FAM189B,FAM189B EXON Missense_L534F,Missense_L516F,Missense_L438F exm106290 1 155218094 [A/C] NM_006589,NM_001267608,NM_198264 FAM189B,FAM189B,FAM189B EXON Missense_G527V,Missense_G509V,Missense_G431V exm106309 1 155220614 [T/C] NM_006589,NM_001267608,NM_198264 FAM189B,FAM189B,FAM189B Silent,Silent,Silent exm106315 1 155221353 [C/G] NM_006589,NM_001267608,NM_198264 FAM189B,FAM189B,FAM189B EXON Missense_L278F,Missense_L260F,Missense_L182F exm106320 1 155221560 [T/G] NM_006589,NM_001267608,NM_198264 FAM189B,FAM189B,FAM189B EXON Missense_P253Q,Missense_P235Q,Missense_P157Q exm1717234 1 155221613 [T/C] NM_006589,NM_001267608,NM_198264 FAM189B,FAM189B,FAM189B EXON Missense_M235I,Missense_M217I,Missense_M139I exm106334 1 155223469 [A/G] NM_006589,NM_001267608,NM_198264 FAM189B,FAM189B,FAM189B EXON Missense_L190F,Missense_L171F,Missense_L94F exm106335 1 155223484 [T/C] NM_006589,NM_001267608,NM_198264 FAM189B,FAM189B,FAM189B EXON Missense_A185T,Missense_A166T,Missense_A89T exm106347 1 155223978 [A/G] NM_006589,NM_001267608,NM_198264 FAM189B,FAM189B,FAM189B EXON Missense_F97S,Missense_F78S,Silent exm106362 1 155226107 [T/C] NM_005698,NM_052837 SCAMP3,SCAMP3 EXON Missense_N334S,Missense_N308S exm106372 1 155226571 [G/C] NM_005698,NM_052837 SCAMP3,SCAMP3 EXON Missense_S264C,Missense_S238C exm-rs1142287 1 155230131 [T/C] NM_005698,NM_052837 SCAMP3,SCAMP3 EXON Synonymous_G126G,Synonymous_G100G exm106398 1 155230432 [A/G] NM_005698,NM_052837 SCAMP3,SCAMP3 EXON Missense_P55S,Missense_P29S exm106406 1 155231510 [A/G] NM_005698,NM_052837 SCAMP3,SCAMP3 EXON Nonsense_Q28X,Silent exm106411 1 155231927 [T/C] NM_005698,NM_052837 SCAMP3,SCAMP3 EXON Missense_D6N,Missense_D6N exm106424 1 155233763 [T/C] NM_003993 CLK2 EXON Missense_R431H exm106438 1 155237803 [C/G] NM_003993 CLK2 EXON Missense_K222N exm106467 1 155240602 [T/C] NM_003993 CLK2 EXON Missense_R56Q exm106468 1 155240609 [A/G] NM_003993 CLK2 EXON Missense_R54C exm106470 1 155240635 [T/C] NM_003993 CLK2 EXON Missense_R45H exm106472 1 155240656 [G/C] NM_003993 CLK2 EXON Missense_S38T exm106479 1 155247518 [A/G] NM_020897,NR_073074 HCN3,HCN3 EXON Missense_R46K,Silent exm106483 1 155247587 [A/G] NM_020897,NR_073074 HCN3,HCN3 EXON Missense_K69R,Silent exm106504 1 155253820 [T/C] NM_020897,NR_073074 HCN3,HCN3 EXON Missense_I255T,Silent exm106511 1 155254411 [T/G] NM_020897,NR_073074 HCN3,HCN3 EXON Missense_A318S,Silent exm106514 1 155254459 [A/G] NM_020897,NR_073074 HCN3,HCN3 EXON Missense_V334I,Silent exm1717319 1 155255014 [A/G] NM_020897,NR_073074 HCN3,HCN3 EXON Missense_R383H,Silent exm106529 1 155255098 [A/G] NM_020897,NR_073074 HCN3,HCN3 EXON Missense_R411H,Silent exm106534 1 155255611 [T/C] NM_020897,NR_073074 HCN3,HCN3 EXON Missense_R445C,Silent exm106536 1 155255630 [T/C] NM_020897,NR_073074 HCN3,HCN3 EXON Missense_P451L,Silent exm106540 1 155255659 [A/G] NM_020897,NR_073074 HCN3,HCN3 EXON Missense_V461M,Silent exm106541 1 155255673 [A/G] NM_020897,NR_073074 HCN3,HCN3 EXON Missense_M465I,Silent exm106543 1 155255701 [A/G] NM_020897,NR_073074 HCN3,HCN3 EXON Missense_V475M,Silent exm106546 1 155255719 [T/C] NM_020897,NR_073074 HCN3,HCN3 EXON Missense_R481W,Silent exm106550 1 155257018 [A/G] NM_020897,NR_073074 HCN3,HCN3 EXON Missense_Y511C,Silent exm106554 1 155257087 [A/G] NM_020897,NR_073074 HCN3,HCN3 EXON Missense_R534Q,Silent exm106560 1 155257596 [A/G] NM_020897,NR_073074 HCN3,HCN3 EXON Missense_R556Q,Silent exm106561 1 155257607 [A/G] NM_020897,NR_073074 HCN3,HCN3 EXON Missense_E560K,Silent exm106562 1 155257646 [T/C] NM_020897,NR_073074 HCN3,HCN3 EXON Missense_H573Y,Silent exm106563 1 155257676 [T/C] NM_020897,NR_073074 HCN3,HCN3 EXON Missense_R583W,Silent exm106564 1 155257692 [A/G] NM_020897,NR_073074 HCN3,HCN3 EXON Missense_R588Q,Silent exm106567 1 155257818 [T/C] NM_020897,NR_073074 HCN3,HCN3 EXON Missense_P630L,Silent exm106589 1 155258226 [A/G] NM_020897,NR_073074 HCN3,HCN3 EXON Missense_R766Q,Silent exm106593 1 155260382 [T/C] NM_181871,NM_000298 PKLR,PKLR EXON Missense_R538Q,Missense_R569Q exm106599 1 155261551 [T/A] NM_181871,NM_000298 PKLR,PKLR EXON Missense_E507D,Missense_E538D exm106601 1 155261613 [A/G] NM_181871,NM_000298 PKLR,PKLR EXON Missense_R487C,Missense_R518C exm106603 1 155261636 [T/C] NM_181871,NM_000298 PKLR,PKLR EXON Missense_R479Q,Missense_R510Q exm106605 1 155261649 [T/C] NM_181871,NM_000298 PKLR,PKLR EXON Missense_V475I,Missense_V506I exm106607 1 155261709 [A/G] NM_181871,NM_000298 PKLR,PKLR EXON Missense_R455W,Missense_R486W exm106609 1 155262969 [A/G] NM_181871,NM_000298 PKLR,PKLR EXON Missense_R448C,Missense_R479C exm1717354 1 155263025 [A/G] NM_181871,NM_000298 PKLR,PKLR EXON Missense_V429A,Missense_V460A exm106625 1 155264067 [A/G] NM_181871,NM_000298 PKLR,PKLR EXON Missense_R328C,Missense_R359C exm1717363 1 155264149 [A/G] NM_181871,NM_000298 PKLR,PKLR EXON Synonymous_D300D,Synonymous_D331D exm106628 1 155264320 [T/G] NM_181871,NM_000298 PKLR,PKLR EXON Missense_H275Q,Missense_H306Q exm2273698 1 155264331 [G/C] NM_181871,NM_000298 PKLR,PKLR EXON Missense_P272A,Missense_P303A exm106631 1 155264409 [T/C] NM_181871,NM_000298 PKLR,PKLR EXON Missense_E246K,Missense_E277K exm106633 1 155264424 [C/G] NM_181871,NM_000298 PKLR,PKLR EXON Missense_L241V,Missense_L272V exm1717366 1 155264433 [A/C] NM_181871,NM_000298 PKLR,PKLR EXON Missense_V238F,Missense_V269F exm106651 1 155265228 [T/C] NM_181871,NM_000298 PKLR,PKLR EXON Synonymous_G138G,Synonymous_G169G exm106652 1 155265230 [A/C] NM_181871,NM_000298 PKLR,PKLR EXON Missense_G138W,Missense_G169W exm106665 1 155269955 [A/G] NM_181871,NM_000298 PKLR,PKLR EXON Missense_L42F,Missense_L73F exm106672 1 155271095 [A/G] NM_000298 PKLR EXON Missense_A31V exm106682 1 155279627 [T/C] NM_001242824,NM_001242825,NM_001135822,NM_002004,NM_001135821 FDPS,FDPS,FDPS,FDPS,FDPS EXON Silent,Silent,Silent,Missense_P16L,Missense_P16L exm106685 1 155279722 [T/C] NM_001242824,NM_001242825,NM_001135822,NM_002004,NM_001135821 FDPS,FDPS,FDPS,FDPS,FDPS EXON Silent,Silent,Silent,Missense_R48C,Missense_R48C exm106694 1 155282065 [T/C] NM_001242824,NM_001242825,NM_001135822,NM_002004,NM_001135821 FDPS,FDPS,FDPS,FDPS,FDPS EXON Missense_I54T,Silent,Missense_I54T,Missense_I120T,Missense_I120T exm1717397 1 155288061 [A/C] NM_001242824,NM_001242825,NM_001135822,NM_002004,NM_001135821 FDPS,FDPS,FDPS,FDPS,FDPS EXON Missense_N155K,Missense_N50K,Missense_N155K,Missense_N221K,Missense_N221K exm106707 1 155289424 [A/C] NM_001242824,NM_001242825,NM_001135822,NM_002004,NM_001135821 FDPS,FDPS,FDPS,FDPS,FDPS EXON Missense_E224A,Missense_E119A,Missense_E224A,Missense_E290A,Missense_E290A exm1717405 1 155289607 [C/G] NM_001242824,NM_001242825,NM_001135822,NM_002004,NM_001135821 FDPS,FDPS,FDPS,FDPS,FDPS EXON Missense_G250A,Missense_G145A,Missense_G250A,Missense_G316A,Missense_G316A exm106714 1 155290231 [T/C] NM_001242824,NM_001242825,NM_001135822,NM_002004,NM_001135821 FDPS,FDPS,FDPS,FDPS,FDPS EXON Missense_V298A,Missense_V193A,Missense_V298A,Missense_V364A,Missense_V364A exm106716 1 155290261 [T/A] NM_001242824,NM_001242825,NM_001135822,NM_002004,NM_001135821,NM_001039517 FDPS,FDPS,FDPS,FDPS,FDPS,RUSC1-AS1 EXON Missense_L308Q,Missense_L203Q,Missense_L308Q,Missense_L374Q,Missense_L374Q,Silent exm106720 1 155290587 [T/G] NM_001039517 RUSC1-AS1 EXON Missense_R231S exm1717411 1 155290685 [A/G] NM_001039517,NM_001105203,NM_001105204 RUSC1-AS1,RUSC1,RUSC1 EXON Nonsense_Q199X,Silent,Silent exm106738 1 155291050 [T/C] NM_001039517,NM_001105203,NM_001105204 RUSC1-AS1,RUSC1,RUSC1 EXON Missense_G77D,Silent,Silent exm106749 1 155291263 [T/G] NM_001039517,NM_001105203,NM_001105204 RUSC1-AS1,RUSC1,RUSC1 EXON Nonsense_S6X,Silent,Silent exm106755 1 155291772 [T/C] NM_001039517,NM_001105203,NM_001105204 RUSC1-AS1,RUSC1,RUSC1 EXON Silent,Missense_P70S,Missense_P70S exm106760 1 155291904 [C/G] NM_001039517,NM_001105203,NM_001105204 RUSC1-AS1,RUSC1,RUSC1 EXON Silent,Missense_P114A,Missense_P114A exm106774 1 155292541 [G/C] NM_001039517,NM_001105203,NM_001105204 RUSC1-AS1,RUSC1,RUSC1 EXON Silent,Missense_G326A,Missense_G326A exm106776 1 155292624 [G/C] NM_001039517,NM_001105203,NM_001105204 RUSC1-AS1,RUSC1,RUSC1 EXON Silent,Missense_P354A,Missense_P354A exm106789 1 155292708 [C/G] NM_001039517,NM_001105203,NM_001105204 RUSC1-AS1,RUSC1,RUSC1 EXON Silent,Missense_A382P,Missense_A382P exm106809 1 155294666 [T/C] NM_001105203,NM_001105204,NM_001105205,NM_014328 RUSC1,RUSC1,RUSC1,RUSC1 EXON Missense_P463L,Missense_P463L,Missense_P53L,Silent exm106817 1 155294914 [T/C] NM_001105203,NM_001105204,NM_001105205,NM_014328 RUSC1,RUSC1,RUSC1,RUSC1 EXON Missense_V493A,Missense_V493A,Missense_V83A,Missense_V24A exm106828 1 155295405 [G/C] NM_001105203,NM_001105204,NM_001105205,NM_014328 RUSC1,RUSC1,RUSC1,RUSC1 EXON Missense_L586V,Missense_L586V,Missense_L176V,Missense_L117V exm106831 1 155295681 [T/C] NM_001105203,NM_001105204,NM_001105205,NM_014328 RUSC1,RUSC1,RUSC1,RUSC1 EXON Missense_S614F,Missense_S614F,Missense_S204F,Missense_S145F exm106838 1 155296440 [C/G] NM_001105203,NM_001105204,NM_001105205,NM_014328 RUSC1,RUSC1,RUSC1,RUSC1 EXON Missense_S644C,Silent,Missense_S234C,Missense_S175C exm106854 1 155297960 [A/C] NM_001105203,NM_001105204,NM_001105205,NM_014328 RUSC1,RUSC1,RUSC1,RUSC1 EXON Missense_P812T,Missense_P706T,Missense_P402T,Missense_P343T exm106857 1 155297994 [A/G] NM_001105203,NM_001105204,NM_001105205,NM_014328 RUSC1,RUSC1,RUSC1,RUSC1 EXON Missense_R823Q,Missense_R717Q,Missense_R413Q,Missense_R354Q exm106858 1 155297999 [A/G] NM_001105203,NM_001105204,NM_001105205,NM_014328 RUSC1,RUSC1,RUSC1,RUSC1 EXON Missense_A825T,Missense_A719T,Missense_A415T,Missense_A356T exm106866 1 155300291 [T/G] NM_001105203,NM_001105204,NM_001105205,NM_014328 RUSC1,RUSC1,RUSC1,RUSC1 EXON Missense_D880Y,Missense_D774Y,Missense_D470Y,Missense_D411Y exm106875 1 155307459 [A/G] NM_018489 ASH1L EXON Nonsense_R2963X exm106885 1 155308021 [T/C] NM_018489 ASH1L EXON Missense_V2888I exm106889 1 155309128 [T/C] NM_018489 ASH1L EXON Missense_N2831S exm106894 1 155311840 [A/C] NM_018489 ASH1L EXON Missense_D2783Y exm106920 1 155317682 [T/C] NM_018489 ASH1L EXON Missense_R2523H exm106962 1 155340670 [T/C] NM_018489 ASH1L EXON Missense_R2146Q exm106969 1 155385602 [A/G] NM_018489 ASH1L EXON Missense_P1981S exm106972 1 155385662 [A/G] NM_018489 ASH1L EXON Missense_P1961S exm106973 1 155408125 [T/C] NM_018489 ASH1L EXON Missense_N1941D exm106981 1 155408493 [A/G] NM_018489 ASH1L EXON Missense_A1818V exm106989 1 155408635 [T/C] NM_018489 ASH1L EXON Missense_T1771A exm106992 1 155408644 [A/G] NM_018489 ASH1L EXON Missense_P1768S exm106994 1 155408686 [T/A] NM_018489 ASH1L EXON Missense_S1754C exm107007 1 155447818 [T/C] NM_018489 ASH1L EXON Missense_R1615G exm107019 1 155448157 [T/C] NM_018489 ASH1L EXON Missense_M1502V exm1717614 1 155448300 [G/C] NM_018489 ASH1L EXON Missense_T1454R exm107025 1 155448415 [A/G] NM_018489 ASH1L EXON Missense_S1416P exm2231436 1 155448901 [A/G] NM_018489 ASH1L EXON Missense_R1254C exm107052 1 155449342 [T/C] NM_018489 ASH1L EXON Missense_I1107V exm2231438 1 155449591 [T/C] NM_018489 ASH1L EXON Missense_S1024G exm107063 1 155449673 [T/A] NM_018489 ASH1L EXON Missense_K996N exm107078 1 155450331 [T/C] NM_018489 ASH1L EXON Missense_R777H exm107090 1 155450838 [T/C] NM_018489 ASH1L EXON Missense_S608N exm107094 1 155450938 [A/C] NM_018489 ASH1L EXON Missense_S575A exm107109 1 155451343 [A/C] NM_018489 ASH1L EXON Missense_C440G exm107111 1 155451382 [T/C] NM_018489 ASH1L EXON Missense_E427K exm107126 1 155451810 [A/G] NM_018489 ASH1L EXON Missense_T284I exm1717634 1 155451832 [T/C] NM_018489 ASH1L EXON Missense_S277G exm107138 1 155452072 [A/G] NM_018489 ASH1L EXON Missense_L197F exm107147 1 155490964 [A/G] NM_018489 ASH1L EXON Missense_I116T exm107155 1 155491157 [A/G] NM_018489 ASH1L EXON Missense_R52W exm2259814 1 155508882 [A/G] NM_018489 ASH1L Silent exm107170 1 155581038 [T/C] NR_046293,NR_046295,NM_001256532,NR_046292,NR_046294,NM_018116,NM_001256533,NR_024117 MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO2P EXON Silent,Silent,Missense_L108F,Silent,Silent,Missense_L108F,Missense_L108F,Silent exm107191 1 155582228 [A/G] NR_046293,NR_046295,NM_001256532,NR_046292,NR_046294,NM_018116,NM_001256533,NR_024117 MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO2P EXON Silent,Silent,Missense_Y278C,Silent,Silent,Missense_Y278C,Missense_Y278C,Silent exm107192 1 155582257 [A/G] NR_046293,NR_046295,NM_001256532,NR_046292,NR_046294,NM_018116,NM_001256533,NR_024117 MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO2P EXON Silent,Silent,Missense_V288M,Silent,Silent,Missense_V288M,Missense_V288M,Silent exm107200 1 155582326 [A/G] NR_046293,NR_046295,NM_001256532,NR_046292,NR_046294,NM_018116,NM_001256533,NR_024117 MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO2P EXON Silent,Silent,Missense_E311K,Silent,Silent,Missense_E311K,Missense_E311K,Silent exm107211 1 155583002 [A/G] NR_046293,NR_046295,NM_001256532,NR_046292,NR_046294,NM_018116,NM_001256533,NR_024117 MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO2P EXON Silent,Silent,Missense_I421V,Silent,Silent,Missense_I421V,Missense_I421V,Silent exm107251 1 155629930 [T/C] NM_001198899,NM_139119,NM_001198904,NM_001198903,NM_018253,NM_139121,NM_001198905,NM_001198901,NM_001198902,NM_001198906,NM_139118,NM_001198900 YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1 EXON Missense_A580T,Missense_A591T,Missense_A709T,Missense_A729T,Missense_A580T,Missense_A525T,Missense_A571T,Missense_A591T,Missense_A591T,Silent,Missense_A637T,Missense_A580T exm107288 1 155630509 [A/G] NM_001198899,NM_139119,NM_001198904,NM_001198903,NM_018253,NM_139121,NM_001198905,NM_001198901,NM_001198902,NM_001198906,NM_139118,NM_001198900 YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1 EXON Missense_R387C,Missense_R398C,Missense_R516C,Missense_R536C,Missense_R387C,Missense_R332C,Missense_R378C,Missense_R398C,Missense_R398C,Silent,Missense_R444C,Missense_R387C exm107314 1 155640115 [T/C] NM_001198899,NM_139119,NM_001198904,NM_001198903,NM_018253,NM_139121,NM_001198905,NM_001198901,NM_001198902,NM_001198906,NM_139118,NM_001198900 YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1 EXON Missense_D231N,Missense_D242N,Missense_D380N,Missense_D380N,Missense_D231N,Missense_D176N,Missense_D242N,Missense_D242N,Missense_D242N,Missense_D308N,Missense_D308N,Missense_D231N exm107333 1 155649220 [T/A] NM_001198899,NM_139119,NM_001198904,NM_001198903,NM_018253,NM_139121,NM_001198905,NM_001198901,NM_001198902,NM_001198906,NM_139118,NM_001198900 YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1 EXON Missense_F24L,Missense_F35L,Missense_F173L,Missense_F173L,Missense_F24L,Silent,Missense_F35L,Missense_F35L,Missense_F35L,Missense_F101L,Missense_F101L,Missense_F24L exm107334 1 155649223 [C/G] NM_001198899,NM_139119,NM_001198904,NM_001198903,NM_018253,NM_139121,NM_001198905,NM_001198901,NM_001198902,NM_001198906,NM_139118,NM_001198900 YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1 EXON Missense_N23K,Missense_N34K,Missense_N172K,Missense_N172K,Missense_N23K,Silent,Missense_N34K,Missense_N34K,Missense_N34K,Missense_N100K,Missense_N100K,Missense_N23K exm107337 1 155650207 [A/C] NM_139119,NM_001198904,NM_001198903,NM_018253,NM_139121,NM_001198905,NM_001198901,NM_001198902,NM_001198906,NM_139118,NM_001198900 YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1 EXON Synonymous_T7T,Synonymous_T145T,Synonymous_T145T,Silent,Silent,Synonymous_T7T,Synonymous_T7T,Synonymous_T7T,Synonymous_T73T,Synonymous_T73T,Silent exm1717783 1 155658015 [A/G] NM_139119,NM_001198904,NM_001198903,NM_018253,NM_139121,NM_001198905,NM_001198901,NM_001198902,NM_001198906,NM_139118,NM_001198900 YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1 EXON Silent,Missense_L81F,Missense_L81F,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm107362 1 155658730 [T/C] NM_139121,NM_001198901,NM_001198906,NM_139118 YY1AP1,YY1AP1,YY1AP1,YY1AP1 EXON Silent,Silent,Missense_N13S,Missense_N13S exm107368 1 155679584 [A/G] NM_001199850,NM_001199851,NM_001199849,NM_004632,NM_033657 DAP3,DAP3,DAP3,DAP3,DAP3 EXON Missense_G5E,Missense_G5E,Missense_G5E,Missense_G5E,Missense_G5E exm107370 1 155686836 [T/C] NM_001199850,NM_001199851,NM_001199849,NM_004632,NM_033657 DAP3,DAP3,DAP3,DAP3,DAP3 EXON Missense_R29C,Silent,Missense_R29C,Missense_R29C,Missense_R29C exm107372 1 155686845 [A/C] NM_001199850,NM_001199851,NM_001199849,NM_004632,NM_033657 DAP3,DAP3,DAP3,DAP3,DAP3 EXON Missense_I32L,Silent,Missense_I32L,Missense_I32L,Missense_I32L exm107375 1 155686867 [A/G] NM_001199850,NM_001199851,NM_001199849,NM_004632,NM_033657 DAP3,DAP3,DAP3,DAP3,DAP3 EXON Missense_Q39R,Silent,Missense_Q39R,Missense_Q39R,Missense_Q39R exm2275497 1 155691351 [A/C] NM_001199850,NM_001199851,NM_001199849,NM_004632,NM_033657 DAP3,DAP3,DAP3,DAP3,DAP3 EXON Silent,Missense_S30Y,Missense_S71Y,Missense_S71Y,Missense_S71Y exm107406 1 155699005 [A/G] NM_001199850,NM_001199851,NM_001199849,NM_004632,NM_033657 DAP3,DAP3,DAP3,DAP3,DAP3 EXON Missense_T197A,Missense_T190A,Missense_T231A,Missense_T231A,Missense_T231A exm107409 1 155699030 [G/C] NM_001199850,NM_001199851,NM_001199849,NM_004632,NM_033657 DAP3,DAP3,DAP3,DAP3,DAP3 EXON Missense_A205G,Missense_A198G,Missense_A239G,Missense_A239G,Missense_A239G exm107410 1 155699032 [T/G] NM_001199850,NM_001199851,NM_001199849,NM_004632,NM_033657 DAP3,DAP3,DAP3,DAP3,DAP3 EXON Missense_V206F,Missense_V199F,Missense_V240F,Missense_V240F,Missense_V240F exm107428 1 155706817 [G/C] NM_001199850,NM_001199851,NM_001199849,NM_004632,NM_033657 DAP3,DAP3,DAP3,DAP3,DAP3 EXON Missense_Q324H,Missense_Q317H,Missense_Q358H,Missense_Q358H,Missense_Q358H exm107460 1 155723008 [C/G] NM_001037533 GON4L EXON Missense_E1943D exm1717858 1 155723141 [T/C] NM_001037533 GON4L EXON Missense_R1899Q exm107467 1 155724185 [A/C] NM_001037533 GON4L EXON Missense_C1871F exm107480 1 155730411 [T/A] NM_001037533 GON4L EXON Missense_I1645F exm107501 1 155734699 [T/C] NM_001037533,NM_032292 GON4L,GON4L EXON Silent,Missense_D1522G exm107506 1 155734742 [A/G] NM_001037533,NM_032292 GON4L,GON4L EXON Silent,Missense_Y1508H exm107508 1 155734759 [T/C] NM_001037533,NM_032292 GON4L,GON4L EXON Silent,Missense_R1502H exm107515 1 155735012 [T/C] NM_001037533,NM_032292 GON4L,GON4L EXON Missense_M1418V,Missense_M1418V exm107519 1 155735239 [T/C] NM_001037533,NM_032292 GON4L,GON4L EXON Missense_R1342H,Missense_R1342H exm1717895 1 155735832 [G/C] NM_001037533,NM_032292 GON4L,GON4L EXON Missense_I1144M,Missense_I1144M exm107542 1 155735885 [A/C] NM_001037533,NM_032292 GON4L,GON4L EXON Missense_A1127S,Missense_A1127S exm107543 1 155735887 [T/G] NM_001037533,NM_032292 GON4L,GON4L EXON Missense_K1126T,Missense_K1126T exm107549 1 155735960 [T/G] NM_001037533,NM_032292 GON4L,GON4L EXON Missense_L1102M,Missense_L1102M exm107611 1 155746214 [A/G] NM_001037533,NM_032292 GON4L,GON4L EXON Missense_P717L,Missense_P717L exm1717910 1 155746229 [T/G] NM_001037533,NM_032292 GON4L,GON4L EXON Missense_N712T,Missense_N712T exm107614 1 155746245 [C/G] NM_001037533,NM_032292 GON4L,GON4L EXON Missense_L707V,Missense_L707V exm107634 1 155774763 [A/G] NM_001037533,NM_032292 GON4L,GON4L EXON Missense_M541T,Missense_M541T exm107649 1 155784156 [T/C] NM_001037533,NM_032292 GON4L,GON4L EXON Missense_T416A,Missense_T416A exm107651 1 155784173 [T/C] NM_001037533,NM_032292 GON4L,GON4L EXON Missense_R410K,Missense_R410K exm107675 1 155823124 [A/G] NM_001037533,NM_032292 GON4L,GON4L EXON Missense_L150F,Missense_L150F exm107677 1 155823151 [T/C] NM_001037533,NM_032292 GON4L,GON4L EXON Missense_V141I,Missense_V141I exm107688 1 155823496 [T/C] NM_001037533,NM_032292 GON4L,GON4L EXON Missense_V26I,Missense_V26I exm107700 1 155837843 [A/G] NM_152280 SYT11 EXON Missense_H41R exm107701 1 155837849 [A/G] NM_152280 SYT11 EXON Missense_Q43R exm107702 1 155837865 [G/C] NM_152280 SYT11 EXON Missense_Q48H exm107707 1 155837932 [A/C] NM_152280 SYT11 EXON Missense_N71H exm107708 1 155837957 [A/G] NM_152280 SYT11 EXON Missense_R79Q exm107711 1 155838025 [A/G] NM_152280 SYT11 EXON Missense_G102S exm107719 1 155838284 [A/G] NM_152280 SYT11 EXON Missense_D188G exm-rs2282301 1 155868625 [A/G] NM_001256821,NM_006912,NM_001256820 RIT1,RIT1,RIT1 EXON Silent,Silent,Silent exm1718080 1 155896514 [T/C] NM_014949 KIAA0907 EXON Missense_A212T exm107818 1 155899631 [C/G] NM_014949 KIAA0907 EXON Missense_L86V exm107835 1 155911517 [A/C] NM_181885 RXFP4 EXON Missense_T6N exm107840 1 155911589 [T/C] NM_181885 RXFP4 EXON Missense_P30L exm107843 1 155911730 [A/G] NM_181885 RXFP4 EXON Missense_D77G exm107850 1 155911915 [T/C] NM_181885 RXFP4 EXON Missense_R139C exm107861 1 155912080 [T/C] NM_181885 RXFP4 EXON Missense_R194C exm107862 1 155912081 [A/G] NM_181885 RXFP4 EXON Missense_R194H exm107868 1 155912197 [T/C] NM_181885 RXFP4 EXON Missense_R233W exm107869 1 155912200 [T/C] NM_181885 RXFP4 EXON Missense_R234W exm107873 1 155912210 [A/G] NM_181885 RXFP4 EXON Missense_R237Q exm107876 1 155912245 [T/C] NM_181885 RXFP4 EXON Missense_R249C exm107882 1 155912363 [T/C] NM_181885 RXFP4 EXON Missense_T288M exm107884 1 155912426 [A/G] NM_181885 RXFP4 EXON Missense_Y309C exm107886 1 155912441 [A/G] NM_181885 RXFP4 EXON Missense_R314Q exm107889 1 155912465 [A/G] NM_181885 RXFP4 EXON Missense_G322D exm107892 1 155912486 [T/C] NM_181885 RXFP4 EXON Missense_L329S exm107894 1 155912548 [T/C] NM_181885 RXFP4 EXON Missense_R350W exm107895 1 155912549 [A/G] NM_181885 RXFP4 EXON Missense_R350Q exm107903 1 155920126 [A/C] NM_001162384,NM_004723,NM_001162383 ARHGEF2,ARHGEF2,ARHGEF2 EXON Missense_G950C,Missense_G923C,Missense_G951C exm107909 1 155920234 [T/G] NM_001162384,NM_004723,NM_001162383 ARHGEF2,ARHGEF2,ARHGEF2 EXON Missense_T914P,Missense_T887P,Missense_T915P exm107927 1 155921320 [A/G] NM_001162384,NM_004723,NM_001162383 ARHGEF2,ARHGEF2,ARHGEF2 EXON Missense_A737V,Missense_A710V,Missense_A738V exm107938 1 155921927 [A/G] NM_001162384,NM_004723,NM_001162383 ARHGEF2,ARHGEF2,ARHGEF2 EXON Missense_T694M,Missense_T667M,Missense_T695M exm107939 1 155921941 [G/C] NM_001162384,NM_004723,NM_001162383 ARHGEF2,ARHGEF2,ARHGEF2 EXON Missense_D689E,Missense_D662E,Missense_D690E exm107959 1 155927672 [T/C] NM_001162384,NM_004723,NM_001162383 ARHGEF2,ARHGEF2,ARHGEF2 EXON Missense_D515G,Missense_D488G,Missense_D516G exm2249995 1 155932841 [A/G] NM_001162384,NM_004723,NM_001162383 ARHGEF2,ARHGEF2,ARHGEF2 EXON Synonymous_L285L,Synonymous_L258L,Synonymous_L286L exm1718164 1 155932914 [A/C] NM_001162384,NM_004723,NM_001162383 ARHGEF2,ARHGEF2,ARHGEF2 EXON Missense_R261L,Missense_R234L,Missense_R262L exm107997 1 155932915 [A/G] NM_001162384,NM_004723,NM_001162383 ARHGEF2,ARHGEF2,ARHGEF2 EXON Missense_R261C,Missense_R234C,Missense_R262C exm108012 1 155935477 [A/G] NM_001162384,NM_004723,NM_001162383 ARHGEF2,ARHGEF2,ARHGEF2 EXON Missense_R139C,Missense_R112C,Missense_R139C exm108045 1 155984760 [T/G] NM_003145 SSR2 EXON Missense_P119T exm108076 1 156011427 [T/G] NM_020131 UBQLN4 EXON Missense_P501H exm108077 1 156011444 [T/C] NM_020131 UBQLN4 EXON Missense_I495M exm108097 1 156018299 [T/C] NM_020131 UBQLN4 EXON Missense_R298Q exm108131 1 156025166 [A/C] NM_001145264,NM_014017 LAMTOR2,LAMTOR2 EXON Missense_N61H,Missense_N61H exm-rs34372695 1 156030037 [T/C] exm108142 1 156035717 [A/G] NM_020387 RAB25 EXON Missense_E20G exm108145 1 156035782 [T/C] NM_020387 RAB25 EXON Missense_R42C exm108153 1 156035856 [A/G] NM_020387 RAB25 EXON Nonsense_W66X exm108164 1 156039980 [G/C] NM_020387 RAB25 EXON Missense_Q182E exm108166 1 156039993 [A/G] NM_020387 RAB25 EXON Missense_R186Q exm108221 1 156100408 [T/C] NR_047544,NM_005572,NM_170708,NM_170707,NR_047545,NM_001257374 LMNA,LMNA,LMNA,LMNA,LMNA,LMNA EXON Silent,Synonymous_R119R,Synonymous_R119R,Synonymous_R119R,Silent,Synonymous_C7C exm108252 1 156106049 [A/G] NR_047544,NM_005572,NM_170708,NM_170707,NR_047545,NM_001257374 LMNA,LMNA,LMNA,LMNA,LMNA,LMNA EXON Silent,Missense_R401H,Missense_R401H,Missense_R401H,Silent,Missense_R289H exm2268940 1 156106185 [T/C] NR_047544,NM_005572,NM_170708,NM_170707,NR_047545,NM_001257374 LMNA,LMNA,LMNA,LMNA,LMNA,LMNA EXON Silent,Synonymous_D446D,Synonymous_D446D,Synonymous_D446D,Silent,Synonymous_D334D exm108274 1 156106982 [A/G] NR_047544,NM_005572,NM_170708,NM_170707,NR_047545,NM_001257374 LMNA,LMNA,LMNA,LMNA,LMNA,LMNA EXON Silent,Missense_G523R,Missense_G523R,Missense_G523R,Silent,Missense_G411R exm108280 1 156107470 [A/G] NR_047544,NM_005572,NM_170708,NM_170707,NR_047545,NM_001257374 LMNA,LMNA,LMNA,LMNA,LMNA,LMNA EXON Silent,Missense_R545H,Silent,Missense_R545H,Silent,Missense_R433H exm108283 1 156107534 [T/C] NR_047544,NM_005572,NM_170708,NM_170707,NR_047545,NM_001257374 LMNA,LMNA,LMNA,LMNA,LMNA,LMNA EXON Silent,Synonymous_H566H,Silent,Synonymous_H566H,Silent,Synonymous_H454H exm108293 1 156108384 [A/G] NM_170708,NM_170707,NM_001257374 LMNA,LMNA,LMNA EXON Missense_G572S,Missense_G602S,Missense_G490S exm108300 1 156108492 [A/G] NM_170708,NM_170707,NM_001257374 LMNA,LMNA,LMNA EXON Missense_G608R,Missense_G638R,Missense_G526R exm108301 1 156108510 [T/C] NM_170708,NM_170707,NM_001257374 LMNA,LMNA,LMNA EXON Missense_R614C,Missense_R644C,Missense_R532C exm108323 1 156127862 [T/C] NM_001193301,NM_022367,NM_001193300,NM_001193302 SEMA4A,SEMA4A,SEMA4A,SEMA4A EXON Missense_I101T,Missense_I101T,Missense_I101T,Missense_I2T exm108333 1 156128541 [T/C] NM_001193301,NM_022367,NM_001193300,NM_001193302 SEMA4A,SEMA4A,SEMA4A,SEMA4A EXON Missense_S165L,Missense_S165L,Missense_S165L,Missense_S33L exm108352 1 156132745 [A/G] NM_001193301,NM_022367,NM_001193300,NM_001193302 SEMA4A,SEMA4A,SEMA4A,SEMA4A EXON Missense_G332R,Missense_G332R,Missense_G332R,Missense_G200R exm2249998 1 156142652 [T/C] NM_001193301,NM_022367,NM_001193300,NM_001193302 SEMA4A,SEMA4A,SEMA4A,SEMA4A EXON Synonymous_T390T,Synonymous_T390T,Synonymous_T390T,Synonymous_T258T exm108369 1 156142752 [T/C] NM_001193301,NM_022367,NM_001193300,NM_001193302 SEMA4A,SEMA4A,SEMA4A,SEMA4A EXON Nonsense_Q424X,Nonsense_Q424X,Nonsense_Q424X,Nonsense_Q292X exm108371 1 156142783 [T/C] NM_001193301,NM_022367,NM_001193300,NM_001193302 SEMA4A,SEMA4A,SEMA4A,SEMA4A EXON Missense_M434T,Missense_M434T,Missense_M434T,Missense_M302T exm108378 1 156144893 [C/G] NM_001193301,NM_022367,NM_001193300,NM_001193302 SEMA4A,SEMA4A,SEMA4A,SEMA4A EXON Missense_G484A,Missense_G484A,Missense_G484A,Missense_G352A exm108382 1 156144971 [A/G] NM_001193301,NM_022367,NM_001193300,NM_001193302 SEMA4A,SEMA4A,SEMA4A,SEMA4A EXON Missense_R510Q,Missense_R510Q,Missense_R510Q,Missense_R378Q exm108387 1 156145424 [A/G] NM_001193301,NM_022367,NM_001193300,NM_001193302 SEMA4A,SEMA4A,SEMA4A,SEMA4A EXON Missense_R557Q,Missense_R557Q,Missense_R557Q,Missense_R425Q exm108389 1 156145436 [A/G] NM_001193301,NM_022367,NM_001193300,NM_001193302 SEMA4A,SEMA4A,SEMA4A,SEMA4A EXON Missense_R561H,Missense_R561H,Missense_R561H,Missense_R429H exm108403 1 156146493 [T/C] NM_001193301,NM_022367,NM_001193300,NM_001193302 SEMA4A,SEMA4A,SEMA4A,SEMA4A EXON Missense_P664L,Missense_P664L,Missense_P664L,Missense_P532L exm108405 1 156146529 [T/C] NM_001193301,NM_022367,NM_001193300,NM_001193302 SEMA4A,SEMA4A,SEMA4A,SEMA4A EXON Missense_A676V,Missense_A676V,Missense_A676V,Missense_A544V exm108406 1 156146540 [T/C] NM_001193301,NM_022367,NM_001193300,NM_001193302 SEMA4A,SEMA4A,SEMA4A,SEMA4A EXON Missense_Y680H,Missense_Y680H,Missense_Y680H,Missense_Y548H exm108407 1 156146546 [T/C] NM_001193301,NM_022367,NM_001193300,NM_001193302 SEMA4A,SEMA4A,SEMA4A,SEMA4A EXON Missense_P682S,Missense_P682S,Missense_P682S,Missense_P550S exm108413 1 156146640 [A/G] NM_001193301,NM_022367,NM_001193300,NM_001193302 SEMA4A,SEMA4A,SEMA4A,SEMA4A EXON Missense_R713Q,Missense_R713Q,Missense_R713Q,Missense_R581Q exm108417 1 156146751 [A/T] NM_001193301,NM_022367,NM_001193300,NM_001193302 SEMA4A,SEMA4A,SEMA4A,SEMA4A EXON Missense_D750V,Missense_D750V,Missense_D750V,Missense_D618V exm108422 1 156169862 [A/G] NM_014655 SLC25A44 EXON Missense_R75Q exm108434 1 156170251 [T/C] NM_014655 SLC25A44 EXON Missense_H205Y exm108450 1 156182816 [A/G] NM_001199663,NM_001199661,NM_001199653,NM_001199664,NM_007221,NM_001199654,NM_001199662 PMF1-BGLAP,PMF1-BGLAP,PMF1,PMF1-BGLAP,PMF1,PMF1,PMF1-BGLAP EXON Missense_A4T,Missense_A4T,Missense_A4T,Missense_A4T,Missense_A4T,Missense_A4T,Missense_A4T exm108468 1 156202173 [A/G] NM_001199663,NM_001199661,NM_001199653,NM_001199664,NM_007221,NM_001199654,NM_001199662 PMF1-BGLAP,PMF1-BGLAP,PMF1,PMF1-BGLAP,PMF1,PMF1,PMF1-BGLAP EXON Missense_Q75R,Missense_Q75R,Missense_Q75R,Silent,Missense_Q75R,Silent,Missense_Q75R exm108480 1 156206121 [A/G] NM_001199663,NM_001199661,NM_001199653,NM_001199664,NM_007221,NM_001199654,NM_001199662 PMF1-BGLAP,PMF1-BGLAP,PMF1,PMF1-BGLAP,PMF1,PMF1,PMF1-BGLAP EXON Silent,Silent,Silent,Missense_M68I,Missense_M137I,Missense_M139I,Missense_M137I exm108481 1 156206143 [T/C] NM_001199663,NM_001199661,NM_001199653,NM_001199664,NM_007221,NM_001199654,NM_001199662 PMF1-BGLAP,PMF1-BGLAP,PMF1,PMF1-BGLAP,PMF1,PMF1,PMF1-BGLAP EXON Silent,Synonymous_N124N,Synonymous_N124N,Missense_R76W,Missense_R145W,Missense_R147W,Missense_R145W exm108483 1 156206155 [T/C] NM_001199663,NM_001199661,NM_001199653,NM_001199664,NM_007221,NM_001199654,NM_001199662 PMF1-BGLAP,PMF1-BGLAP,PMF1,PMF1-BGLAP,PMF1,PMF1,PMF1-BGLAP EXON Silent,Synonymous_C128C,Synonymous_C128C,Missense_R80W,Missense_R149W,Missense_R151W,Missense_R149W exm108484 1 156206156 [A/G] NM_001199663,NM_001199661,NM_001199653,NM_001199664,NM_007221,NM_001199654,NM_001199662 PMF1-BGLAP,PMF1-BGLAP,PMF1,PMF1-BGLAP,PMF1,PMF1,PMF1-BGLAP EXON Silent,Missense_G129S,Missense_G129S,Missense_R80Q,Missense_R149Q,Missense_R151Q,Missense_R149Q exm108485 1 156206158 [T/C] NM_001199663,NM_001199661,NM_001199653,NM_001199664,NM_007221,NM_001199654,NM_001199662 PMF1-BGLAP,PMF1-BGLAP,PMF1,PMF1-BGLAP,PMF1,PMF1,PMF1-BGLAP EXON Silent,Synonymous_G129G,Synonymous_G129G,Missense_R81C,Missense_R150C,Missense_R152C,Missense_R150C exm108486 1 156206181 [T/C] NM_001199663,NM_001199661,NM_001199653,NM_001199664,NM_007221,NM_001199654,NM_001199662 PMF1-BGLAP,PMF1-BGLAP,PMF1,PMF1-BGLAP,PMF1,PMF1,PMF1-BGLAP EXON Silent,Missense_P137L,Missense_P137L,Synonymous_A88A,Synonymous_A157A,Synonymous_A159A,Synonymous_A157A exm108490 1 156206205 [T/C] NM_001199663,NM_001199661,NM_001199653,NM_001199664,NM_007221,NM_001199654,NM_001199662 PMF1-BGLAP,PMF1-BGLAP,PMF1,PMF1-BGLAP,PMF1,PMF1,PMF1-BGLAP EXON Silent,Missense_P145L,Missense_P145L,Synonymous_A96A,Synonymous_A165A,Synonymous_A167A,Synonymous_A165A exm108494 1 156206248 [A/G] NM_001199663,NM_001199661,NM_001199653,NM_001199664,NM_007221,NM_001199654,NM_001199662 PMF1-BGLAP,PMF1-BGLAP,PMF1,PMF1-BGLAP,PMF1,PMF1,PMF1-BGLAP EXON Silent,Synonymous_R159R,Synonymous_R159R,Missense_V111I,Missense_V180I,Missense_V182I,Missense_V180I exm108505 1 156212068 [T/C] NM_001199663,NM_001199661,NM_001199664,NM_001199662,NM_199173 PMF1-BGLAP,PMF1-BGLAP,PMF1-BGLAP,PMF1-BGLAP,BGLAP EXON Silent,Silent,Silent,Silent,Missense_C16R exm108509 1 156212360 [T/C] NM_001199663,NM_001199661,NM_001199664,NM_001199662,NM_199173 PMF1-BGLAP,PMF1-BGLAP,PMF1-BGLAP,PMF1-BGLAP,BGLAP EXON Missense_C129R,Missense_C174R,Missense_V125A,Missense_V194A,Synonymous_G27G exm1718486 1 156212564 [A/G] NM_001199663,NM_001199661,NM_001199664,NM_001199662,NM_199173 PMF1-BGLAP,PMF1-BGLAP,PMF1-BGLAP,PMF1-BGLAP,BGLAP EXON Missense_Q140R,Missense_Q185R,Synonymous_P136P,Synonymous_P205P,Missense_K39E exm1718487 1 156212567 [A/C] NM_001199663,NM_001199661,NM_001199664,NM_001199662,NM_199173 PMF1-BGLAP,PMF1-BGLAP,PMF1-BGLAP,PMF1-BGLAP,BGLAP EXON Missense_A141E,Missense_A186E,Missense_S137R,Missense_S206R,Missense_Q40K exm1718488 1 156212578 [T/C] NM_001199663,NM_001199661,NM_001199664,NM_001199662,NM_199173 PMF1-BGLAP,PMF1-BGLAP,PMF1-BGLAP,PMF1-BGLAP,BGLAP EXON Nonsense_R145X,Nonsense_R190X,Missense_A141V,Missense_A210V,Synonymous_S43S exm108518 1 156212872 [A/T] NM_001199663,NM_001199661,NM_001199664,NM_001199662,NM_199173 PMF1-BGLAP,PMF1-BGLAP,PMF1-BGLAP,PMF1-BGLAP,BGLAP EXON Missense_X176R,Missense_X221R,Silent,Silent,Nonsense_C74X exm108520 1 156212894 [A/G] NM_001199663,NM_001199661,NM_001199664,NM_001199662,NM_199173 PMF1-BGLAP,PMF1-BGLAP,PMF1-BGLAP,PMF1-BGLAP,BGLAP EXON Silent,Silent,Silent,Silent,Missense_E82K exm108525 1 156212931 [A/G] NM_001199663,NM_001199661,NM_001199664,NM_001199662,NM_199173 PMF1-BGLAP,PMF1-BGLAP,PMF1-BGLAP,PMF1-BGLAP,BGLAP EXON Silent,Silent,Silent,Silent,Missense_R94Q exm108526 1 156212933 [T/C] NM_001199663,NM_001199661,NM_001199664,NM_001199662,NM_199173 PMF1-BGLAP,PMF1-BGLAP,PMF1-BGLAP,PMF1-BGLAP,BGLAP EXON Silent,Silent,Silent,Silent,Missense_R95C exm2273699 1 156213762 [A/C] NM_024897,NM_001272104,NM_001272105,NM_001272109,NM_001272107,NM_001272110,NM_001272113,NM_001272112,NM_001272106,NM_001272108,NR_073610,NM_198406,NM_001272111 PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6 EXON Missense_G316W,Silent,Silent,Missense_G176W,Silent,Missense_G176W,Missense_G176W,Missense_G176W,Missense_G248W,Silent,Silent,Silent,Missense_G176W exm108548 1 156214492 [T/C] NM_024897,NM_001272104,NM_001272105,NM_001272109,NM_001272107,NM_001272110,NM_001272113,NM_001272112,NM_001272106,NM_001272108,NR_073610,NM_198406,NM_001272111 PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6 EXON Missense_R168G,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_R100G,Silent,Silent,Silent,Silent exm108554 1 156214553 [A/G] NM_024897,NM_001272104,NM_001272105,NM_001272109,NM_001272107,NM_001272110,NM_001272113,NM_001272112,NM_001272106,NM_001272108,NR_073610,NM_198406,NM_001272111 PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6 EXON Synonymous_I147I,Synonymous_I253I,Synonymous_I250I,Missense_S31L,Synonymous_I147I,Missense_S31L,Missense_S31L,Missense_S31L,Synonymous_I79I,Synonymous_I142I,Silent,Synonymous_I253I,Missense_S31L exm108563 1 156214641 [A/C] NM_024897,NM_001272104,NM_001272105,NM_001272109,NM_001272107,NM_001272110,NM_001272113,NM_001272112,NM_001272106,NM_001272108,NR_073610,NM_198406,NM_001272111 PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6 EXON Missense_G118V,Missense_G224V,Missense_G221V,Missense_A2S,Missense_G118V,Missense_A2S,Missense_A2S,Missense_A2S,Silent,Missense_G113V,Silent,Missense_G224V,Missense_A2S exm108566 1 156214675 [T/C] NM_024897,NM_001272104,NM_001272105,NM_001272109,NM_001272107,NM_001272110,NM_001272113,NM_001272112,NM_001272106,NM_001272108,NR_073610,NM_198406,NM_001272111 PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6 EXON Missense_G107S,Missense_G213S,Missense_G210S,Silent,Missense_G107S,Silent,Silent,Silent,Silent,Missense_G102S,Silent,Missense_G213S,Silent exm108576 1 156215431 [A/G] NM_024897,NM_001272104,NM_001272105,NM_001272109,NM_001272107,NM_001272110,NM_001272113,NM_001272112,NM_001272106,NM_001272108,NR_073610,NM_198406,NM_001272111 PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6 EXON Missense_A30V,Missense_A136V,Missense_A133V,Silent,Missense_A30V,Silent,Silent,Silent,Missense_P3S,Silent,Silent,Missense_A136V,Silent exm108590 1 156216005 [A/G] NM_024897,NM_001272104,NM_001272105,NM_001272109,NM_001272107,NM_001272110,NM_001272113,NM_001272112,NM_001272106,NM_001272108,NR_073610,NM_198406,NM_001272111 PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6 EXON Silent,Missense_R30C,Missense_R27C,Silent,Silent,Silent,Silent,Silent,Silent,Missense_R30C,Silent,Missense_R30C,Silent exm2273338 1 156220334 [A/G] NM_015327 SMG5 EXON Silent exm108606 1 156220455 [C/G] NM_015327 SMG5 EXON Missense_L992V exm108607 1 156220659 [A/C] NM_015327 SMG5 EXON Missense_G986V exm108610 1 156220780 [A/G] NM_015327 SMG5 EXON Missense_Y946H exm108627 1 156228816 [A/C] NM_015327 SMG5 EXON Missense_A808S exm108637 1 156230304 [C/G] NM_015327 SMG5 EXON Missense_R741G exm108663 1 156235766 [A/C] NM_015327 SMG5 EXON Missense_G554V exm108664 1 156235769 [T/C] NM_015327 SMG5 EXON Missense_N553S exm108666 1 156235800 [A/G] NM_015327 SMG5 EXON Missense_R543W exm108668 1 156235857 [T/C] NM_015327 SMG5 EXON Missense_D524N exm108683 1 156236155 [A/C] NM_015327 SMG5 EXON Missense_K424N exm2231461 1 156236171 [T/C] NM_015327 SMG5 EXON Missense_D419G exm108688 1 156237315 [T/C] NM_015327 SMG5 EXON Missense_I355V exm108692 1 156237377 [G/C] NM_015327 SMG5 EXON Missense_S334T exm108697 1 156237971 [A/C] NM_015327 SMG5 EXON Missense_C281W exm108703 1 156242144 [T/C] NM_015327 SMG5 EXON Missense_Y227C exm108716 1 156246879 [T/C] NM_015327 SMG5 EXON Missense_I151V exm108722 1 156247019 [T/C] NM_015327 SMG5 EXON Missense_R104Q exm108723 1 156247757 [T/C] NM_015327 SMG5 EXON Missense_V86I exm108729 1 156248779 [T/C] NM_015327 SMG5 EXON Missense_K41E exm108735 1 156252399 [A/G] NM_015327 SMG5 EXON Missense_R25W exm108742 1 156255022 [T/C] NR_026678,NM_032323 TMEM79,TMEM79 EXON Silent,Missense_T2I exm108744 1 156255045 [A/C] NR_026678,NM_032323 TMEM79,TMEM79 EXON Silent,Missense_L10M exm108747 1 156255109 [A/G] NR_026678,NM_032323 TMEM79,TMEM79 EXON Silent,Missense_R31Q exm1718595 1 156255142 [T/C] NR_026678,NM_032323 TMEM79,TMEM79 EXON Silent,Missense_P42L exm108752 1 156255162 [A/G] NR_026678,NM_032323 TMEM79,TMEM79 EXON Silent,Missense_V49M exm108759 1 156255327 [T/A] NR_026678,NM_032323 TMEM79,TMEM79 EXON Silent,Missense_S104T exm108764 1 156255396 [T/C] NR_026678,NM_032323 TMEM79,TMEM79 EXON Silent,Missense_R127C exm108766 1 156255448 [A/G] NR_026678,NM_032323 TMEM79,TMEM79 EXON Silent,Missense_D144G exm108767 1 156255456 [A/G] NR_026678,NM_032323 TMEM79,TMEM79 EXON Silent,Missense_V147M exm108783 1 156255609 [G/C] NR_026678,NM_032323 TMEM79,TMEM79 EXON Silent,Missense_L198V exm108799 1 156256116 [T/C] NR_026678,NM_032323 TMEM79,TMEM79 EXON Silent,Missense_R275W exm1718606 1 156256134 [T/C] NR_026678,NM_032323 TMEM79,TMEM79 EXON Silent,Missense_R281W exm1718607 1 156256191 [A/G] NR_026678,NM_032323 TMEM79,TMEM79 EXON Silent,Missense_V300M exm108807 1 156256195 [T/C] NR_026678,NM_032323 TMEM79,TMEM79 EXON Silent,Missense_L301P exm108811 1 156256257 [A/G] NR_026678,NM_032323 TMEM79,TMEM79 EXON Silent,Missense_V322I exm108821 1 156261298 [T/C] NR_026678,NM_032323 TMEM79,TMEM79 EXON Silent,Missense_P365L exm108833 1 156262905 [A/G] NM_144580,NM_001256604,NM_001256608,NM_001256609,NM_001256605 C1orf85,C1orf85,C1orf85,C1orf85,C1orf85 EXON Missense_M384T,Missense_M335T,Synonymous_H298H,Missense_M303T,Missense_M298T exm108835 1 156262945 [C/G] NM_144580,NM_001256604,NM_001256608,NM_001256609,NM_001256605 C1orf85,C1orf85,C1orf85,C1orf85,C1orf85 EXON Missense_L371V,Missense_L322V,Missense_P285R,Missense_L290V,Missense_L285V exm108846 1 156263343 [A/G] NM_144580,NM_001256604,NM_001256608,NM_001256609,NM_001256605 C1orf85,C1orf85,C1orf85,C1orf85,C1orf85 EXON Missense_L275F,Silent,Silent,Missense_L194F,Missense_L189F exm2231464 1 156263837 [T/C] NM_144580,NM_001256604,NM_001256608,NM_001256609,NM_001256605 C1orf85,C1orf85,C1orf85,C1orf85,C1orf85 EXON Missense_D257G,Missense_D257G,Missense_D257G,Missense_D176G,Missense_D171G exm108859 1 156263940 [T/C] NM_144580,NM_001256604,NM_001256608,NM_001256609,NM_001256605 C1orf85,C1orf85,C1orf85,C1orf85,C1orf85 EXON Missense_I223V,Missense_I223V,Missense_I223V,Missense_I142V,Missense_I137V exm108861 1 156264000 [A/G] NM_144580,NM_001256604,NM_001256608,NM_001256609,NM_001256605 C1orf85,C1orf85,C1orf85,C1orf85,C1orf85 EXON Missense_P203S,Missense_P203S,Missense_P203S,Missense_P122S,Missense_P117S exm2231466 1 156264002 [T/C] NM_144580,NM_001256604,NM_001256608,NM_001256609,NM_001256605 C1orf85,C1orf85,C1orf85,C1orf85,C1orf85 EXON Missense_R202Q,Missense_R202Q,Missense_R202Q,Missense_R121Q,Missense_R116Q exm108862 1 156264003 [A/G] NM_144580,NM_001256604,NM_001256608,NM_001256609,NM_001256605 C1orf85,C1orf85,C1orf85,C1orf85,C1orf85 EXON Nonsense_R202X,Nonsense_R202X,Nonsense_R202X,Nonsense_R121X,Nonsense_R116X exm108864 1 156264175 [T/C] NM_144580,NM_001256604,NM_001256608,NM_001256609,NM_001256605 C1orf85,C1orf85,C1orf85,C1orf85,C1orf85 EXON Missense_N187S,Missense_N187S,Missense_N187S,Missense_N106S,Missense_N101S exm108871 1 156264339 [T/G] NM_144580,NM_001256604,NM_001256608,NM_001256609,NM_001256605 C1orf85,C1orf85,C1orf85,C1orf85,C1orf85 EXON Missense_S132R,Missense_S132R,Missense_S132R,Missense_S51R,Missense_S46R exm108875 1 156264648 [T/C] NM_144580,NM_001256604,NM_001256608,NM_001256609,NM_001256605 C1orf85,C1orf85,C1orf85,C1orf85,C1orf85 EXON Missense_V94I,Missense_V94I,Missense_V94I,Missense_V13I,Silent exm108881 1 156264690 [C/G] NM_144580,NM_001256604,NM_001256608,NM_001256609,NM_001256605 C1orf85,C1orf85,C1orf85,C1orf85,C1orf85 EXON Missense_V80L,Missense_V80L,Missense_V80L,Silent,Silent exm108907 1 156268808 [A/G] NM_001004319 VHLL EXON Missense_I58T exm108908 1 156268832 [A/G] NM_001004319 VHLL EXON Missense_S50L exm108909 1 156268833 [A/G] NM_001004319 VHLL EXON Missense_S50P exm108911 1 156268845 [A/G] NM_001004319 VHLL EXON Missense_R46C exm108913 1 156268884 [T/C] NM_001004319 VHLL EXON Missense_E33K exm1718670 1 156280881 [A/C] NR_036565,NM_005998,NR_036564,NM_001008800 CCT3,CCT3,CCT3,CCT3 EXON Silent,Missense_A421S,Silent,Missense_A383S exm108936 1 156280971 [A/G] NR_036565,NM_005998,NR_036564,NM_001008800 CCT3,CCT3,CCT3,CCT3 EXON Silent,Missense_L391F,Silent,Missense_L353F exm1718679 1 156287027 [A/G] NR_036565,NM_005998,NR_036564,NM_001008800 CCT3,CCT3,CCT3,CCT3 EXON Silent,Missense_H302Y,Silent,Missense_H264Y exm108959 1 156290656 [T/C] NR_036565,NM_005998,NR_036564,NM_001008800 CCT3,CCT3,CCT3,CCT3 EXON Silent,Missense_I195V,Silent,Missense_I157V exm108984 1 156305641 [A/G] NR_036565,NM_005998,NR_036564,NM_001008800 CCT3,CCT3,CCT3,CCT3 EXON Silent,Missense_S24P,Silent,Missense_S24P exm108994 1 156309555 [T/C] NM_144627 TSACC EXON Missense_R3W exm109001 1 156314440 [T/G] NM_144627 TSACC EXON Missense_L35R exm109004 1 156314497 [T/C] NM_144627 TSACC EXON Missense_S54L exm1718722 1 156316594 [G/C] NM_144627 TSACC EXON Missense_E67Q exm109013 1 156316679 [T/C] NM_144627 TSACC EXON Missense_T95I exm109020 1 156339047 [G/C] NM_020407,NR_046115,NM_001256395,NM_001256396 RHBG,RHBG,RHBG,RHBG EXON Missense_G3R,Silent,Silent,Silent exm109021 1 156339082 [T/G] NM_020407,NR_046115,NM_001256395,NM_001256396 RHBG,RHBG,RHBG,RHBG EXON Missense_Q14H,Silent,Silent,Silent exm109022 1 156339083 [T/C] NM_020407,NR_046115,NM_001256395,NM_001256396 RHBG,RHBG,RHBG,RHBG EXON Missense_L15F,Silent,Silent,Silent exm109026 1 156339147 [A/G] NM_020407,NR_046115,NM_001256395,NM_001256396 RHBG,RHBG,RHBG,RHBG EXON Missense_Y36C,Silent,Silent,Silent exm109031 1 156347121 [A/G] NM_020407,NR_046115,NM_001256395,NM_001256396 RHBG,RHBG,RHBG,RHBG EXON Missense_V73M,Silent,Missense_V4M,Missense_V43M exm109032 1 156347131 [A/G] NM_020407,NR_046115,NM_001256395,NM_001256396 RHBG,RHBG,RHBG,RHBG EXON Missense_G76D,Silent,Missense_G7D,Missense_G46D exm109033 1 156347147 [C/G] NM_020407,NR_046115,NM_001256395,NM_001256396 RHBG,RHBG,RHBG,RHBG EXON Missense_F81L,Silent,Missense_F12L,Missense_F51L exm109035 1 156347160 [A/G] NM_020407,NR_046115,NM_001256395,NM_001256396 RHBG,RHBG,RHBG,RHBG EXON Missense_G86S,Silent,Missense_G17S,Missense_G56S exm109036 1 156347238 [T/C] NM_020407,NR_046115,NM_001256395,NM_001256396 RHBG,RHBG,RHBG,RHBG EXON Missense_H112Y,Silent,Missense_H43Y,Missense_H82Y exm109046 1 156347833 [A/G] NM_020407,NR_046115,NM_001256395,NM_001256396 RHBG,RHBG,RHBG,RHBG EXON Missense_V143I,Silent,Missense_V74I,Missense_V113I exm109047 1 156347834 [T/A] NM_020407,NR_046115,NM_001256395,NM_001256396 RHBG,RHBG,RHBG,RHBG EXON Missense_V143D,Silent,Missense_V74D,Missense_V113D exm109060 1 156348148 [T/C] NM_020407,NR_046115,NM_001256395,NM_001256396 RHBG,RHBG,RHBG,RHBG EXON Missense_R211C,Silent,Missense_R142C,Missense_R181C exm109064 1 156351213 [T/C] NM_020407,NR_046115,NM_001256395,NM_001256396 RHBG,RHBG,RHBG,RHBG EXON Missense_T250M,Silent,Missense_T181M,Missense_T220M exm109066 1 156351613 [G/C] NM_020407,NR_046115,NM_001256395,NM_001256396 RHBG,RHBG,RHBG,RHBG EXON Missense_A286G,Silent,Missense_A217G,Missense_A256G exm109069 1 156351699 [A/G] NM_020407,NR_046115,NM_001256395,NM_001256396 RHBG,RHBG,RHBG,RHBG EXON Missense_G315R,Silent,Missense_G246R,Missense_G285R exm109070 1 156351733 [T/C] NM_020407,NR_046115,NM_001256395,NM_001256396 RHBG,RHBG,RHBG,RHBG EXON Missense_T326M,Silent,Missense_T257M,Missense_T296M exm109089 1 156352648 [C/G] NM_020407,NR_046115,NM_001256395,NM_001256396 RHBG,RHBG,RHBG,RHBG EXON Missense_G408R,Silent,Missense_G339R,Missense_G378R exm109116 1 156377693 [T/G] NM_006365 C1orf61 EXON Nonsense_C82X exm109117 1 156377704 [A/G] NM_006365 C1orf61 EXON Missense_R79W exm109130 1 156437816 [A/G] NM_001271629,NM_005920 MEF2D,MEF2D EXON Missense_S501L,Missense_S508L exm109139 1 156437912 [A/C] NM_001271629,NM_005920 MEF2D,MEF2D EXON Missense_G469V,Missense_G476V exm109140 1 156437916 [T/C] NM_001271629,NM_005920 MEF2D,MEF2D EXON Missense_G468R,Missense_G475R exm2264906 1 156495001 [A/G] exm1718871 1 156496297 [T/C] NM_178229 IQGAP3 EXON Missense_K1626R exm2275327 1 156497764 [A/G] NM_178229 IQGAP3 EXON Nonsense_R1588X exm109207 1 156497838 [A/G] NM_178229 IQGAP3 EXON Missense_I1563T exm109209 1 156498307 [T/G] NM_178229 IQGAP3 EXON Missense_A1556D exm109222 1 156499967 [T/C] NM_178229 IQGAP3 EXON Missense_R1445H exm109225 1 156499985 [T/C] NM_178229 IQGAP3 EXON Missense_R1439H exm109229 1 156500033 [T/C] NM_178229 IQGAP3 EXON Missense_R1423H exm109231 1 156500039 [T/C] NM_178229 IQGAP3 EXON Missense_R1421Q exm109234 1 156500096 [T/C] NM_178229 IQGAP3 EXON Missense_K1402R exm109239 1 156502788 [A/G] NM_178229 IQGAP3 EXON Missense_R1363C exm109241 1 156502847 [A/G] NM_178229 IQGAP3 EXON Missense_S1343F exm109251 1 156503650 [A/C] NM_178229 IQGAP3 EXON Missense_Q1297H exm109262 1 156504308 [A/G] NM_178229 IQGAP3 EXON Missense_T1242I exm109264 1 156504372 [C/G] NM_178229 IQGAP3 EXON Missense_A1221P exm109281 1 156506972 [T/C] NM_178229 IQGAP3 Silent exm109282 1 156507013 [T/C] NM_178229 IQGAP3 EXON Missense_K1128E exm109283 1 156507025 [T/C] NM_178229 IQGAP3 EXON Missense_A1124T exm109286 1 156507067 [T/C] NM_178229 IQGAP3 EXON Missense_E1110K exm2250005 1 156507068 [A/G] NM_178229 IQGAP3 EXON Synonymous_P1109P exm109299 1 156509223 [T/C] NM_178229 IQGAP3 EXON Missense_R1000H exm109314 1 156513809 [A/G] NM_178229 IQGAP3 EXON Nonsense_R832X exm109315 1 156513841 [A/C] NM_178229 IQGAP3 EXON Missense_V821G exm2273700 1 156513961 [A/G] NM_178229 IQGAP3 EXON Missense_H815Y exm109332 1 156518001 [T/C] NM_178229 IQGAP3 EXON Missense_R723H exm109335 1 156518140 [T/C] NM_178229 IQGAP3 EXON Synonymous_Q711Q exm109337 1 156518154 [A/G] NM_178229 IQGAP3 EXON Missense_R707W exm109341 1 156518379 [A/G] NM_178229 IQGAP3 EXON Missense_R663C exm109343 1 156518421 [T/C] NM_178229 IQGAP3 EXON Missense_G649S exm109345 1 156518433 [T/C] NM_178229 IQGAP3 EXON Missense_D645N exm109358 1 156520100 [A/C] NM_178229 IQGAP3 EXON Missense_R593L exm109359 1 156520109 [T/C] NM_178229 IQGAP3 EXON Missense_E590G exm109369 1 156521547 [T/C] NM_178229 IQGAP3 EXON Missense_A562T exm109372 1 156521765 [T/C] NM_178229 IQGAP3 Silent exm109375 1 156521853 [A/G] NM_178229 IQGAP3 EXON Missense_R495C exm109378 1 156524028 [A/G] NM_178229 IQGAP3 EXON Missense_R483C exm109384 1 156524097 [T/C] NM_178229 IQGAP3 EXON Missense_S460G exm109386 1 156524139 [A/C] NM_178229 IQGAP3 EXON Missense_A446S exm109389 1 156526327 [G/C] NM_178229 IQGAP3 EXON Missense_G430R exm109392 1 156526387 [C/G] NM_178229 IQGAP3 EXON Missense_V410L exm109396 1 156526444 [T/C] NM_178229 IQGAP3 EXON Missense_R391G exm109398 1 156526467 [T/C] NM_178229 IQGAP3 EXON Missense_R383Q exm109400 1 156530732 [T/G] NM_178229 IQGAP3 EXON Missense_Q375K exm109411 1 156532380 [A/G] NM_178229 IQGAP3 EXON Synonymous_N292N exm109413 1 156532436 [T/C] NM_178229 IQGAP3 EXON Missense_I274V exm109422 1 156533066 [A/G] NM_178229 IQGAP3 EXON Nonsense_R220X exm109426 1 156533387 [T/C] NM_178229 IQGAP3 EXON Missense_G193R exm109427 1 156533396 [T/G] NM_178229 IQGAP3 EXON Missense_S190R exm2250006 1 156536221 [C/G] NM_178229 IQGAP3 EXON Synonymous_P81P exm109452 1 156536256 [T/G] NM_178229 IQGAP3 EXON Missense_K70Q exm109455 1 156536300 [A/G] NM_178229 IQGAP3 EXON Missense_P55L exm1718979 1 156539250 [A/G] NM_178229 IQGAP3 EXON Missense_R15C exm109469 1 156542294 [A/G] NM_178229 IQGAP3 EXON Missense_W10R exm109473 1 156551248 [A/G] NM_001105669 TTC24 EXON Missense_R31Q exm109475 1 156551447 [A/C] NM_001105669 TTC24 EXON Missense_R97S exm109487 1 156551848 [A/G] NM_001105669 TTC24 EXON Missense_E231G exm109496 1 156552226 [A/G] NM_001105669 TTC24 EXON Missense_G304S exm109501 1 156553142 [G/C] NM_001105669 TTC24 EXON Missense_G351A exm109508 1 156553620 [T/G] NM_001105669 TTC24 EXON Missense_V395G exm109512 1 156553647 [T/C] NM_001105669 TTC24 EXON Missense_T404M exm109522 1 156555577 [T/C] NM_001105669 TTC24 EXON Missense_T510M exm109528 1 156555764 [C/G] NM_001105669 TTC24 EXON Missense_P532A exm109531 1 156555819 [A/G] NM_001105669 TTC24 EXON Missense_N550S exm109532 1 156555827 [A/C] NM_001105669 TTC24 EXON Missense_Q553K exm109540 1 156561651 [G/C] NM_144772 APOA1BP EXON Missense_V19L exm109545 1 156561901 [A/C] NM_144772 APOA1BP EXON Missense_E64A exm109547 1 156561933 [A/G] NM_144772 APOA1BP EXON Missense_E75K exm109563 1 156563219 [T/C] NM_144772 APOA1BP EXON Missense_L179P exm109580 1 156563805 [A/G] NM_144772 APOA1BP EXON Missense_A266T exm109584 1 156563851 [T/C] NM_144772 APOA1BP EXON Missense_T281I exm109594 1 156565010 [A/G] NM_182679,NM_015590 GPATCH4,GPATCH4 EXON Nonsense_Q370X,Nonsense_Q375X exm109597 1 156565111 [A/C] NM_182679,NM_015590 GPATCH4,GPATCH4 EXON Missense_R336I,Missense_R341I exm109598 1 156565114 [T/C] NM_182679,NM_015590 GPATCH4,GPATCH4 EXON Missense_R335Q,Missense_R340Q exm109600 1 156565156 [A/G] NM_182679,NM_015590 GPATCH4,GPATCH4 EXON Missense_T321I,Missense_T326I exm109604 1 156565256 [T/C] NM_182679,NM_015590 GPATCH4,GPATCH4 EXON Missense_R288G,Missense_R293G exm109612 1 156565413 [C/G] NM_182679,NM_015590 GPATCH4,GPATCH4 EXON Missense_Q235H,Missense_Q240H exm109626 1 156566195 [A/G] NM_182679,NM_015590 GPATCH4,GPATCH4 EXON Missense_S137P,Missense_S142P exm109653 1 156571202 [A/G] NM_182679,NM_015590 GPATCH4,GPATCH4 EXON Silent,Synonymous_D10D exm109655 1 156571216 [T/C] NM_182679,NM_015590 GPATCH4,GPATCH4 EXON Silent,Missense_G6R exm109666 1 156593800 [T/C] NM_021817 HAPLN2 EXON Missense_P96L exm109668 1 156593928 [T/G] NM_021817 HAPLN2 EXON Missense_V139L exm109671 1 156594258 [A/G] NM_021817 HAPLN2 EXON Synonymous_Q185Q exm109687 1 156615902 [A/C] NM_021948,NM_198427 BCAN,BCAN EXON Missense_A19E,Missense_A19E exm109696 1 156616763 [T/G] NM_021948,NM_198427 BCAN,BCAN EXON Missense_A88S,Missense_A88S exm109702 1 156616814 [C/G] NM_021948,NM_198427 BCAN,BCAN EXON Missense_R105G,Missense_R105G exm109711 1 156617333 [A/G] NM_021948,NM_198427 BCAN,BCAN EXON Missense_R167H,Missense_R167H exm109734 1 156621251 [T/C] NM_021948,NM_198427 BCAN,BCAN EXON Missense_S356L,Missense_S356L exm109737 1 156621286 [T/C] NM_021948,NM_198427 BCAN,BCAN EXON Missense_P368S,Missense_P368S exm109739 1 156621311 [A/G] NM_021948,NM_198427 BCAN,BCAN EXON Missense_G376E,Missense_G376E exm109750 1 156622070 [A/C] NM_021948,NM_198427 BCAN,BCAN EXON Missense_T443K,Missense_T443K exm109757 1 156622208 [T/C] NM_021948,NM_198427 BCAN,BCAN EXON Missense_P489L,Missense_P489L exm109758 1 156622252 [A/G] NM_021948,NM_198427 BCAN,BCAN EXON Missense_E504K,Missense_E504K exm109771 1 156622495 [A/G] NM_021948,NM_198427 BCAN,BCAN EXON Missense_T585A,Missense_T585A exm109775 1 156622525 [A/C] NM_021948,NM_198427 BCAN,BCAN EXON Missense_L595I,Missense_L595I exm109779 1 156622705 [A/G] NM_021948,NM_198427 BCAN,BCAN EXON Silent,Missense_T655A exm109784 1 156626137 [A/G] NM_021948 BCAN EXON Missense_R669H exm109789 1 156626166 [G/C] NM_021948 BCAN EXON Missense_D679H exm109794 1 156626789 [T/C] NM_021948 BCAN EXON Missense_S704P exm109795 1 156626796 [T/G] NM_021948 BCAN EXON Missense_R706L exm2250007 1 156628363 [G/C] NM_021948 BCAN EXON Synonymous_P822P exm109816 1 156628394 [T/C] NM_021948 BCAN EXON Missense_R833C exm109819 1 156628415 [T/C] NM_021948 BCAN EXON Missense_L840F exm109828 1 156628909 [A/C] NM_021948 BCAN EXON Missense_P907T exm2264907 1 156629037 [A/G] NM_021948 BCAN EXON Silent exm109834 1 156639215 [T/A] NM_006617 NES EXON Missense_T1589S exm109838 1 156639277 [A/G] NM_006617 NES EXON Missense_P1568L exm109839 1 156639305 [C/G] NM_006617 NES EXON Missense_Q1559E exm109848 1 156639545 [T/C] NM_006617 NES EXON Missense_G1479S exm109851 1 156639584 [T/C] NM_006617 NES EXON Missense_S1466G exm109872 1 156640156 [A/G] NM_006617 NES EXON Missense_P1275L exm1719129 1 156640385 [G/C] NM_006617 NES EXON Missense_A1199P exm109892 1 156640469 [T/C] NM_006617 NES EXON Missense_G1171S exm109896 1 156640505 [T/C] NM_006617 NES EXON Missense_G1159R exm109898 1 156640581 [C/G] NM_006617 NES EXON Missense_R1133S exm109902 1 156640667 [A/C] NM_006617 NES EXON Missense_V1105L exm109903 1 156640678 [A/G] NM_006617 NES EXON Missense_P1101L exm109906 1 156640760 [G/C] NM_006617 NES EXON Missense_G1074R exm109911 1 156640933 [T/C] NM_006617 NES EXON Missense_S1016N exm109916 1 156641119 [A/G] NM_006617 NES EXON Missense_T954M exm109918 1 156641131 [A/C] NM_006617 NES EXON Missense_R950M exm109919 1 156641200 [A/T] NM_006617 NES EXON Missense_E927V exm1719137 1 156641353 [A/G] NM_006617 NES EXON Missense_V876A exm109930 1 156641477 [T/C] NM_006617 NES EXON Missense_E835K exm109932 1 156641491 [T/C] NM_006617 NES EXON Missense_K830R exm109937 1 156641609 [T/G] NM_006617 NES EXON Missense_L791I exm109942 1 156641746 [G/C] NM_006617 NES EXON Missense_R745T exm109946 1 156641908 [A/G] NM_006617 NES EXON Missense_P691L exm109954 1 156642155 [G/C] NM_006617 NES EXON Missense_E609Q exm109955 1 156642158 [T/C] NM_006617 NES EXON Missense_K608E exm109959 1 156642277 [A/G] NM_006617 NES EXON Missense_L568P exm109961 1 156642301 [A/G] NM_006617 NES EXON Missense_L560P exm109967 1 156642568 [A/C] NM_006617 NES EXON Missense_S471I exm1719157 1 156646306 [T/G] NM_006617 NES EXON Missense_Q251K exm110004 1 156646668 [A/G] NM_006617 NES EXON Missense_V130A exm110031 1 156670334 [G/C] NM_001199723,NM_001878 CRABP2,CRABP2 EXON Synonymous_L122L,Synonymous_L122L exm110032 1 156670351 [T/C] NM_001199723,NM_001878 CRABP2,CRABP2 EXON Missense_D117N,Missense_D117N exm110042 1 156670829 [A/G] NM_001199723,NM_001878 CRABP2,CRABP2 EXON Missense_L29P,Missense_L29P exm110070 1 156696974 [C/G] NM_030980 ISG20L2 EXON Missense_Q157H exm110075 1 156697056 [T/C] NM_030980 ISG20L2 EXON Missense_N130S exm110081 1 156697255 [T/A] NM_030980 ISG20L2 EXON Missense_T64S exm110086 1 156698943 [A/G] NM_015997,NM_001142560 RRNAD1,RRNAD1 EXON Missense_Q16R,Missense_Q16R exm-rs12145743 1 156700651 [T/G] NM_015997,NM_001142560 RRNAD1,RRNAD1 Silent,Silent exm110102 1 156702216 [A/G] NM_015997,NM_001142560 RRNAD1,RRNAD1 EXON Missense_R127Q,Missense_R127Q exm110109 1 156702820 [T/C] NM_015997,NM_001142560 RRNAD1,RRNAD1 EXON Missense_V158A,Missense_V158A exm110118 1 156703837 [A/G] NM_015997,NM_001142560 RRNAD1,RRNAD1 EXON Missense_V225M,Silent exm110144 1 156705634 [T/G] NM_015997,NM_001142560 RRNAD1,RRNAD1 EXON Synonymous_A413A,Missense_S252A exm110146 1 156705683 [T/C] NM_015997,NM_001142560 RRNAD1,RRNAD1 EXON Synonymous_L430L,Missense_A268V exm110157 1 156706501 [T/C] NM_015997,NM_001142560 RRNAD1,RRNAD1 EXON Missense_P462S,Silent exm110170 1 156707553 [G/C] NM_145729,NM_024540 MRPL24,MRPL24 EXON Missense_I133M,Missense_I133M exm2231488 1 156707844 [T/G] NM_145729,NM_024540 MRPL24,MRPL24 EXON Missense_K121T,Missense_K121T exm1719237 1 156708315 [A/G] NM_145729,NM_024540 MRPL24,MRPL24 EXON Missense_T61M,Missense_T61M exm110183 1 156708367 [T/C] NM_145729,NM_024540 MRPL24,MRPL24 EXON Missense_V44M,Missense_V44M exm110188 1 156708460 [T/C] NM_145729,NM_024540 MRPL24,MRPL24 EXON Missense_V13I,Missense_V13I exm2273339 1 156713234 [T/C] NM_001126051,NM_004494,NM_001126050 HDGF,HDGF,HDGF EXON Silent,Silent,Silent exm110193 1 156713451 [A/G] NM_001126051,NM_004494,NM_001126050 HDGF,HDGF,HDGF EXON Missense_H230Y,Missense_H237Y,Missense_H253Y exm110202 1 156713558 [A/G] NM_001126051,NM_004494,NM_001126050 HDGF,HDGF,HDGF EXON Missense_P194L,Missense_P201L,Missense_P217L exm110207 1 156713631 [T/C] NM_001126051,NM_004494,NM_001126050 HDGF,HDGF,HDGF EXON Missense_G170R,Missense_G177R,Missense_G193R exm110209 1 156713657 [T/C] NM_001126051,NM_004494,NM_001126050 HDGF,HDGF,HDGF EXON Missense_R161H,Missense_R168H,Missense_R184H exm110211 1 156713960 [T/G] NM_001126051,NM_004494,NM_001126050 HDGF,HDGF,HDGF EXON Missense_L155M,Missense_L162M,Missense_L178M exm110214 1 156714026 [A/C] NM_001126051,NM_004494,NM_001126050 HDGF,HDGF,HDGF EXON Missense_V133F,Missense_V140F,Missense_V156F exm110232 1 156721861 [A/G] NM_001126051,NM_001126050 HDGF,HDGF EXON Missense_T12M,Silent exm110240 1 156737617 [C/G] NM_005973 PRCC EXON Missense_E18D exm110261 1 156752120 [A/C] NM_005973 PRCC EXON Missense_Q172P exm1719266 1 156756568 [T/C] NM_005973 PRCC EXON Missense_L229F exm110279 1 156756739 [C/G] NM_005973 PRCC EXON Missense_P286A exm110289 1 156756905 [A/G] NM_005973 PRCC EXON Missense_D341G exm110299 1 156761540 [A/C] NM_005973 PRCC EXON Missense_P379T exm110301 1 156761543 [G/C] NM_005973 PRCC EXON Missense_Q380E exm110312 1 156776968 [A/G] NM_001161441,NM_001161442,NM_001161443,NM_003975,NM_001161444 SH2D2A,SH2D2A,SH2D2A,SH2D2A,SH2D2A EXON Silent,Silent,Silent,Silent,Silent exm110314 1 156777017 [T/G] NM_001161441,NM_001161442,NM_001161443,NM_003975,NM_001161444 SH2D2A,SH2D2A,SH2D2A,SH2D2A,SH2D2A EXON Missense_L385I,Missense_L357I,Missense_L347I,Missense_L375I,Missense_L375I exm110335 1 156779505 [T/C] NM_001161441,NM_001161442,NM_001161443,NM_003975,NM_001161444 SH2D2A,SH2D2A,SH2D2A,SH2D2A,SH2D2A EXON Missense_K231R,Missense_K203R,Missense_K193R,Missense_K221R,Missense_K221R exm1719300 1 156784913 [T/C] NM_001161441,NM_001161442,NM_001161443,NM_003975,NM_001161444 SH2D2A,SH2D2A,SH2D2A,SH2D2A,SH2D2A EXON Missense_R75Q,Missense_R57Q,Missense_R47Q,Missense_R75Q,Missense_R75Q exm110358 1 156784982 [T/C] NM_001161441,NM_001161442,NM_001161443,NM_003975,NM_001161444 SH2D2A,SH2D2A,SH2D2A,SH2D2A,SH2D2A EXON Missense_N52S,Missense_N34S,Missense_N24S,Missense_N52S,Missense_N52S exm110370 1 156785800 [A/C] NM_001161441,NM_001161442,NM_001161443,NM_003975,NM_001161444,NM_001007792 SH2D2A,SH2D2A,SH2D2A,SH2D2A,SH2D2A,NTRK1 EXON Missense_A41S,Missense_A23S,Missense_A13S,Missense_A41S,Missense_A41S,Silent exm110378 1 156786487 [T/A] NM_001161441,NM_001161442,NM_003975,NM_001161444,NM_001007792 SH2D2A,SH2D2A,SH2D2A,SH2D2A,NTRK1 EXON Missense_L5Q,Silent,Missense_L5Q,Missense_L5Q,Silent exm110391 1 156810763 [A/G] NM_001007792,NM_014215 NTRK1,INSRR EXON Silent,Missense_R1266W exm110393 1 156810789 [A/T] NM_001007792,NM_014215 NTRK1,INSRR EXON Silent,Missense_L1257H exm110400 1 156811202 [T/C] NM_001007792,NM_014215 NTRK1,INSRR EXON Silent,Missense_G1216S exm110403 1 156811231 [A/G] NM_001007792,NM_014215 NTRK1,INSRR EXON Silent,Missense_M1206T exm110405 1 156811255 [T/C] NM_001007792,NM_014215 NTRK1,INSRR EXON Silent,Missense_N1198S exm110416 1 156811515 [A/G] NM_001007792,NM_014215 NTRK1,INSRR EXON Silent,Missense_R1157C exm110426 1 156811909 [T/A] NM_001007792,NM_014215 NTRK1,INSRR EXON Missense_I16F,Missense_I1131N exm110430 1 156811994 [T/C] NM_001007792,NM_014215 NTRK1,INSRR EXON Silent,Missense_M1103V exm110435 1 156812213 [A/G] NM_001007792,NM_014215 NTRK1,INSRR EXON Silent,Nonsense_R1072X exm110437 1 156812236 [T/C] NM_001007792,NM_014215 NTRK1,INSRR EXON Silent,Missense_R1064H exm110440 1 156812296 [T/C] NM_001007792,NM_014215 NTRK1,INSRR EXON Silent,Missense_R1044H exm110465 1 156814385 [T/C] NM_001007792,NM_014215 NTRK1,INSRR EXON Silent,Missense_R869Q exm110469 1 156814548 [A/G] NM_001007792,NM_014215 NTRK1,INSRR EXON Silent,Missense_P842L exm110471 1 156814608 [A/G] NM_001007792,NM_014215 NTRK1,INSRR EXON Silent,Missense_V822A exm110473 1 156814868 [T/G] NM_001007792,NM_014215 NTRK1,INSRR EXON Silent,Synonymous_R813R exm110489 1 156815411 [A/G] NM_001007792,NM_014215 NTRK1,INSRR EXON Silent,Missense_I725T exm110501 1 156815806 [A/G] NM_001007792,NM_014215 NTRK1,INSRR EXON Silent,Missense_L639P exm110515 1 156816335 [T/C] NM_001007792,NM_014215 NTRK1,INSRR EXON Silent,Missense_V596I exm110529 1 156819094 [A/C] NM_001007792,NM_014215 NTRK1,INSRR EXON Silent,Missense_R463L exm110534 1 156819165 [C/G] NM_001007792,NM_014215 NTRK1,INSRR EXON Silent,Missense_K439N exm110562 1 156821759 [T/C] NM_001007792,NM_014215 NTRK1,INSRR EXON Silent,Missense_G288S exm110566 1 156821786 [A/G] NM_001007792,NM_014215 NTRK1,INSRR EXON Silent,Missense_R279C exm110572 1 156821885 [A/G] NM_001007792,NM_014215 NTRK1,INSRR EXON Silent,Missense_C246R exm110573 1 156821890 [T/C] NM_001007792,NM_014215 NTRK1,INSRR EXON Silent,Missense_R244H exm110595 1 156823801 [T/G] NM_001007792,NM_014215 NTRK1,INSRR EXON Silent,Missense_A127E exm110596 1 156823805 [T/C] NM_001007792,NM_014215 NTRK1,INSRR EXON Silent,Missense_V126M exm110617 1 156823976 [A/G] NM_001007792,NM_014215 NTRK1,INSRR EXON Silent,Missense_R69C exm2250011 1 156824007 [T/C] NM_001007792,NM_014215 NTRK1,INSRR EXON Silent,Synonymous_L58L exm110620 1 156824054 [A/G] NM_001007792,NM_014215 NTRK1,INSRR EXON Silent,Missense_R43C exm110623 1 156828358 [A/G] NM_001007792,NM_014215 NTRK1,INSRR EXON Silent,Missense_S19F exm110633 1 156834169 [A/T] NM_001007792,NM_002529,NM_001012331 NTRK1,NTRK1,NTRK1 EXON Missense_L49Q,Missense_L79Q,Missense_L79Q exm110635 1 156834187 [A/G] NM_001007792,NM_002529,NM_001012331 NTRK1,NTRK1,NTRK1 EXON Missense_R55H,Missense_R85H,Missense_R85H exm2231495 1 156834198 [A/G] NM_001007792,NM_002529,NM_001012331 NTRK1,NTRK1,NTRK1 EXON Missense_G59S,Missense_G89S,Missense_G89S exm110644 1 156834527 [A/G] NM_001007792,NM_002529,NM_001012331 NTRK1,NTRK1,NTRK1 EXON Missense_V69M,Missense_V99M,Missense_V99M exm1719390 1 156834558 [A/G] NM_001007792,NM_002529,NM_001012331 NTRK1,NTRK1,NTRK1 EXON Missense_D79G,Missense_D109G,Missense_D109G exm110655 1 156837904 [T/C] NM_001007792,NM_002529,NM_001012331 NTRK1,NTRK1,NTRK1 EXON Missense_S116L,Missense_S146L,Missense_S146L exm110660 1 156837949 [A/G] NM_001007792,NM_002529,NM_001012331 NTRK1,NTRK1,NTRK1 EXON Missense_R131H,Missense_R161H,Missense_R161H exm110668 1 156838324 [A/C] NM_001007792,NM_002529,NM_001012331 NTRK1,NTRK1,NTRK1 EXON Missense_P171H,Missense_P201H,Missense_P201H exm110669 1 156838333 [T/C] NM_001007792,NM_002529,NM_001012331 NTRK1,NTRK1,NTRK1 EXON Missense_S174L,Missense_S204L,Missense_S204L exm110672 1 156838353 [A/G] NM_001007792,NM_002529,NM_001012331 NTRK1,NTRK1,NTRK1 EXON Missense_V181M,Missense_V211M,Missense_V211M exm110685 1 156843428 [T/C] NM_001007792,NM_002529,NM_001012331 NTRK1,NTRK1,NTRK1 EXON Missense_P255L,Missense_P285L,Missense_P285L exm110688 1 156843439 [A/C] NM_001007792,NM_002529,NM_001012331 NTRK1,NTRK1,NTRK1 EXON Missense_Q259K,Missense_Q289K,Missense_Q289K exm110692 1 156843514 [T/C] NM_001007792,NM_002529,NM_001012331 NTRK1,NTRK1,NTRK1 EXON Missense_R284C,Missense_R314C,Missense_R314C exm110698 1 156843595 [A/G] NM_001007792,NM_002529,NM_001012331 NTRK1,NTRK1,NTRK1 EXON Missense_V311M,Missense_V341M,Missense_V341M exm1719411 1 156844404 [G/C] NM_001007792,NM_002529,NM_001012331 NTRK1,NTRK1,NTRK1 EXON Missense_E377Q,Missense_E413Q,Missense_E407Q exm110721 1 156844777 [A/G] NM_001007792,NM_002529,NM_001012331 NTRK1,NTRK1,NTRK1 EXON Missense_R408Q,Missense_R444Q,Missense_R438Q exm110723 1 156844800 [T/C] NM_001007792,NM_002529,NM_001012331 NTRK1,NTRK1,NTRK1 EXON Missense_R416C,Missense_R452C,Missense_R446C exm110726 1 156845431 [A/G] NM_001007792,NM_002529,NM_001012331 NTRK1,NTRK1,NTRK1 EXON Missense_E456K,Missense_E492K,Missense_E486K exm1719422 1 156845892 [A/C] NM_001007792,NM_002529,NM_001012331 NTRK1,NTRK1,NTRK1 EXON Synonymous_R472R,Synonymous_R508R,Synonymous_R502R exm2273701 1 156846256 [T/C] NM_001007792,NM_002529,NM_001012331 NTRK1,NTRK1,NTRK1 EXON Missense_M530T,Missense_M566T,Missense_M560T exm110740 1 156846300 [A/G] NM_001007792,NM_002529,NM_001012331 NTRK1,NTRK1,NTRK1 EXON Missense_E545K,Missense_E581K,Missense_E575K exm110750 1 156848918 [T/C] NM_001007792,NM_002529,NM_001012331 NTRK1,NTRK1,NTRK1 EXON Missense_H568Y,Missense_H604Y,Missense_H598Y exm110751 1 156848946 [T/G] NM_001007792,NM_002529,NM_001012331 NTRK1,NTRK1,NTRK1 EXON Missense_G577V,Missense_G613V,Missense_G607V exm110768 1 156849792 [T/G] NM_001007792,NM_002529,NM_001012331 NTRK1,NTRK1,NTRK1 EXON Missense_V647G,Missense_V683G,Missense_V677G exm110781 1 156851265 [T/C] NM_001007792,NM_002529,NM_001012331 NTRK1,NTRK1,NTRK1 EXON Missense_T705M,Missense_T741M,Missense_T735M exm110788 1 156851382 [A/G] NM_001007792,NM_002529,NM_001012331 NTRK1,NTRK1,NTRK1 EXON Missense_R744Q,Missense_R780Q,Missense_R774Q exm-rs12566888 1 156869047 [T/G] NM_001080471 PEAR1 Silent exm110815 1 156875126 [T/C] NM_001080471 PEAR1 EXON Missense_R73W exm110817 1 156875154 [T/C] NM_001080471 PEAR1 EXON Missense_T82M exm110832 1 156876543 [A/C] NM_001080471 PEAR1 EXON Missense_P172Q exm110835 1 156876636 [A/G] NM_001080471 PEAR1 EXON Missense_G203E exm110836 1 156876650 [C/G] NM_001080471 PEAR1 EXON Missense_P208A exm110840 1 156877457 [T/C] NM_001080471 PEAR1 EXON Missense_S234P exm110849 1 156877782 [T/G] NM_001080471 PEAR1 EXON Missense_G281C exm110857 1 156878039 [T/C] NM_001080471 PEAR1 EXON Missense_T341I exm110858 1 156878044 [A/G] NM_001080471 PEAR1 EXON Missense_D343N exm110874 1 156879581 [A/G] NM_001080471 PEAR1 EXON Missense_G484R exm110878 1 156879633 [T/C] NM_001080471 PEAR1 EXON Missense_V501A exm110901 1 156882048 [T/C] NM_001080471 PEAR1 EXON Missense_P654L exm110909 1 156882331 [A/C] NM_001080471 PEAR1 EXON Missense_Q709P exm110917 1 156882627 [A/G] NM_001080471 PEAR1 EXON Missense_I759V exm110920 1 156882654 [A/G] NM_001080471 PEAR1 EXON Missense_V768M exm110924 1 156882741 [A/G] NM_001080471 PEAR1 EXON Missense_G797R exm110927 1 156882757 [C/G] NM_001080471 PEAR1 EXON Missense_S802C exm1719504 1 156883282 [T/C] NM_001080471 PEAR1 EXON Missense_R871C exm110947 1 156883493 [A/G] NM_001080471 PEAR1 EXON Missense_R885H exm110949 1 156883546 [A/G] NM_001080471 PEAR1 EXON Missense_N903D exm110950 1 156883547 [A/G] NM_001080471 PEAR1 EXON Missense_N903S exm110953 1 156883667 [A/G] NM_001080471 PEAR1 EXON Missense_G913R exm110968 1 156883891 [T/C] NM_001080471 PEAR1 EXON Synonymous_H987H exm110982 1 156890672 [T/C] NM_144702 LRRC71 EXON Missense_V26A exm110988 1 156894486 [T/C] NM_144702 LRRC71 EXON Missense_P164L exm111004 1 156897591 [T/G] NM_144702 LRRC71 EXON Missense_A297S exm111008 1 156899079 [T/C] NM_144702 LRRC71 EXON Missense_S335F exm111021 1 156900320 [G/C] NM_144702 LRRC71 Silent exm111029 1 156902222 [A/G] NM_144702 LRRC71 EXON Missense_R483H exm111031 1 156902281 [T/G] NM_144702 LRRC71 EXON Missense_S503A exm111032 1 156902311 [A/G] NM_144702 LRRC71 EXON Missense_V513M exm111040 1 156902678 [A/G] NM_144702 LRRC71 EXON Missense_A533T exm111047 1 156905823 [A/G] NM_014784,NM_198236 ARHGEF11,ARHGEF11 EXON Missense_T1513I,Missense_T1553I exm111049 1 156905847 [C/G] NM_014784,NM_198236 ARHGEF11,ARHGEF11 EXON Missense_S1505C,Missense_S1545C exm111064 1 156906757 [G/C] NM_014784,NM_198236 ARHGEF11,ARHGEF11 EXON Missense_G1454A,Missense_G1494A exm111070 1 156907081 [T/C] NM_014784,NM_198236 ARHGEF11,ARHGEF11 EXON Missense_H1427R,Missense_H1467R exm111071 1 156907091 [A/T] NM_014784,NM_198236 ARHGEF11,ARHGEF11 EXON Missense_M1424L,Missense_M1464L exm111072 1 156907096 [A/G] NM_014784,NM_198236 ARHGEF11,ARHGEF11 EXON Missense_V1422A,Missense_V1462A exm111074 1 156907115 [T/C] NM_014784,NM_198236 ARHGEF11,ARHGEF11 EXON Missense_S1416G,Missense_S1456G exm111075 1 156907126 [T/C] NM_014784,NM_198236 ARHGEF11,ARHGEF11 EXON Missense_R1412H,Missense_R1452H exm111080 1 156907247 [A/G] NM_014784,NM_198236 ARHGEF11,ARHGEF11 EXON Missense_S1372P,Missense_S1412P exm111084 1 156907264 [A/G] NM_014784,NM_198236 ARHGEF11,ARHGEF11 EXON Missense_P1366L,Missense_P1406L exm111087 1 156908212 [A/G] NM_014784,NM_198236 ARHGEF11,ARHGEF11 EXON Missense_T1357M,Missense_T1397M exm111088 1 156908225 [T/C] NM_014784,NM_198236 ARHGEF11,ARHGEF11 EXON Missense_G1353R,Missense_G1393R exm111106 1 156909655 [T/C] NM_014784,NM_198236 ARHGEF11,ARHGEF11 EXON Missense_T1221A,Missense_T1261A exm111126 1 156911718 [T/C] NM_014784,NM_198236 ARHGEF11,ARHGEF11 EXON Missense_M1090I,Missense_M1130I exm111153 1 156916516 [T/C] NM_014784,NM_198236 ARHGEF11,ARHGEF11 EXON Missense_I838V,Missense_I878V exm2275270 1 156916729 [T/C] NM_014784,NM_198236 ARHGEF11,ARHGEF11 EXON Missense_R816Q,Missense_R856Q exm111162 1 156917152 [T/G] NM_014784,NM_198236 ARHGEF11,ARHGEF11 EXON Missense_P771H,Missense_P811H exm2231503 1 156917583 [A/C] NM_014784,NM_198236 ARHGEF11,ARHGEF11 EXON Missense_I733M,Missense_I773M exm2231504 1 156917977 [A/G] NM_014784,NM_198236 ARHGEF11,ARHGEF11 EXON Missense_R677C,Missense_R717C exm111195 1 156926340 [T/C] NM_014784,NM_198236 ARHGEF11,ARHGEF11 EXON Missense_A475T,Missense_A515T exm111196 1 156926356 [A/G] NM_014784,NM_198236 ARHGEF11,ARHGEF11 EXON Synonymous_S469S,Synonymous_S509S exm111198 1 156927607 [T/C] NM_014784,NM_198236 ARHGEF11,ARHGEF11 EXON Synonymous_L461L,Synonymous_L501L exm111200 1 156928561 [T/C] NM_014784,NM_198236 ARHGEF11,ARHGEF11 EXON Missense_K452R,Missense_K492R exm111201 1 156928576 [T/C] NM_014784,NM_198236 ARHGEF11,ARHGEF11 EXON Missense_R447H,Missense_R487H exm2273703 1 156928654 [A/G] NM_014784,NM_198236 ARHGEF11,ARHGEF11 EXON Missense_T421M,Missense_T461M exm2231505 1 156933003 [T/G] NM_014784,NM_198236 ARHGEF11,ARHGEF11 EXON Missense_S338R,Missense_S378R exm111215 1 156933019 [G/C] NM_014784,NM_198236 ARHGEF11,ARHGEF11 EXON Missense_F332L,Missense_F372L exm111236 1 156937916 [A/T] NM_014784,NM_198236 ARHGEF11,ARHGEF11 EXON Missense_S236T,Missense_S276T exm111238 1 156939114 [T/C] NM_014784,NM_198236 ARHGEF11,ARHGEF11 EXON Missense_G222D,Missense_G262D exm111239 1 156939148 [A/G] NM_014784,NM_198236 ARHGEF11,ARHGEF11 EXON Missense_R211W,Missense_R251W exm111250 1 156941578 [T/C] NM_014784,NM_198236 ARHGEF11,ARHGEF11 EXON Silent,Missense_A205T exm111259 1 156948127 [T/C] NM_014784,NM_198236 ARHGEF11,ARHGEF11 EXON Missense_M127V,Missense_M127V exm111265 1 156954132 [A/G] NM_014784,NM_198236 ARHGEF11,ARHGEF11 EXON Synonymous_P74P,Synonymous_P74P exm111266 1 156954136 [T/C] NM_014784,NM_198236 ARHGEF11,ARHGEF11 EXON Missense_R73Q,Missense_R73Q exm111267 1 156954137 [A/G] NM_014784,NM_198236 ARHGEF11,ARHGEF11 EXON Missense_R73W,Missense_R73W exm111269 1 156954161 [A/G] NM_014784,NM_198236 ARHGEF11,ARHGEF11 EXON Missense_R65C,Missense_R65C exm111284 1 157062575 [T/C] NM_001004341 ETV3L EXON Missense_M318V exm111289 1 157062631 [T/C] NM_001004341 ETV3L EXON Missense_R299K exm111293 1 157062688 [A/G] NM_001004341 ETV3L EXON Missense_A280V exm111297 1 157062736 [A/G] NM_001004341 ETV3L EXON Missense_A264V exm111298 1 157062739 [G/C] NM_001004341 ETV3L EXON Missense_G263A exm111306 1 157067660 [A/G] NM_001004341 ETV3L EXON Nonsense_R203X exm111307 1 157067666 [T/C] NM_001004341 ETV3L EXON Missense_V201I exm111309 1 157067672 [T/G] NM_001004341 ETV3L EXON Missense_S199R exm111312 1 157067699 [T/C] NM_001004341 ETV3L EXON Missense_T190A exm111314 1 157067719 [G/C] NM_001004341 ETV3L EXON Missense_T183S exm111322 1 157068561 [C/G] NM_001004341 ETV3L EXON Missense_H141Q exm111326 1 157068595 [C/G] NM_001004341 ETV3L EXON Missense_P130R exm111342 1 157069134 [A/G] NM_001004341 ETV3L EXON Missense_S32L exm111346 1 157069261 [A/C] NM_001004341 ETV3L EXON Missense_S19A exm111358 1 157094802 [T/G] NM_001145312 ETV3 EXON Missense_K457T exm-rs11264625 1 157128705 [T/C] exm-rs6427356 1 157130566 [A/G] exm2268768 1 157367179 [T/C] exm111388 1 157485429 [G/C] NM_031281,NM_001195388 FCRL5,FCRL5 EXON Silent,Missense_C987S exm111390 1 157485472 [T/C] NM_031281,NM_001195388 FCRL5,FCRL5 EXON Missense_H976R,Missense_T973A exm111392 1 157485504 [A/G] NM_031281,NM_001195388 FCRL5,FCRL5 EXON Synonymous_S965S,Missense_P962L exm111393 1 157485511 [A/G] NM_031281,NM_001195388 FCRL5,FCRL5 EXON Missense_P963L,Missense_R960W exm111394 1 157485519 [T/C] NM_031281,NM_001195388 FCRL5,FCRL5 EXON Synonymous_A960A,Missense_R957H exm111407 1 157488519 [T/C] NM_031281,NM_001195388 FCRL5,FCRL5 EXON Nonsense_W905X,Nonsense_W905X exm1720130 1 157489532 [T/C] NM_031281,NM_001195388 FCRL5,FCRL5 Silent,Silent exm111446 1 157494243 [T/C] NM_031281,NM_001195388 FCRL5,FCRL5 EXON Missense_I689V,Missense_I689V exm111476 1 157504553 [A/T] NM_031281,NM_001195388 FCRL5,FCRL5 EXON Missense_D511V,Missense_D511V exm111477 1 157504557 [T/C] NM_031281,NM_001195388 FCRL5,FCRL5 EXON Missense_E510K,Missense_E510K exm111483 1 157508882 [T/C] NM_031281,NM_001195388 FCRL5,FCRL5 EXON Missense_V466I,Missense_V466I exm111487 1 157508906 [A/G] NM_031281,NM_001195388 FCRL5,FCRL5 EXON Missense_R458C,Missense_R458C exm111488 1 157508908 [T/C] NM_031281,NM_001195388 FCRL5,FCRL5 EXON Missense_Q457R,Missense_Q457R exm111493 1 157508997 [T/G] NM_031281,NM_001195388 FCRL5,FCRL5 EXON Missense_N427K,Missense_N427K exm111494 1 157509005 [A/G] NM_031281,NM_001195388 FCRL5,FCRL5 EXON Missense_S425P,Missense_S425P exm111496 1 157509025 [T/C] NM_031281,NM_001195388 FCRL5,FCRL5 EXON Missense_G418D,Missense_G418D exm111498 1 157509125 [T/G] NM_031281,NM_001195388 FCRL5,FCRL5 EXON Missense_S385R,Missense_S385R exm111499 1 157509143 [A/G] NM_031281,NM_001195388 FCRL5,FCRL5 EXON Missense_H379Y,Missense_H379Y exm111509 1 157512702 [A/G] NM_031281,NM_001195388 FCRL5,FCRL5 EXON Missense_A357V,Missense_A357V exm111514 1 157512819 [A/G] NM_031281,NM_001195388 FCRL5,FCRL5 EXON Missense_L318S,Missense_L318S exm111522 1 157514075 [A/G] NM_031281,NM_001195388 FCRL5,FCRL5 EXON Missense_P274L,Missense_P274L exm111528 1 157514097 [A/G] NM_031281,NM_001195388 FCRL5,FCRL5 EXON Missense_Y267H,Missense_Y267H exm111534 1 157514216 [T/C] NM_031281,NM_001195388 FCRL5,FCRL5 EXON Missense_R227H,Missense_R227H exm111536 1 157514228 [A/G] NM_031281,NM_001195388 FCRL5,FCRL5 EXON Missense_P223L,Missense_P223L exm111540 1 157514324 [T/C] NM_031281,NM_001195388 FCRL5,FCRL5 EXON Missense_R191H,Missense_R191H exm111541 1 157514654 [T/C] NM_031281,NM_001195388 FCRL5,FCRL5 EXON Missense_V176I,Missense_V176I exm111547 1 157516802 [A/G] NM_031281,NM_001195388 FCRL5,FCRL5 EXON Missense_S80P,Missense_S80P exm111548 1 157516823 [T/C] NM_031281,NM_001195388 FCRL5,FCRL5 EXON Missense_N73D,Missense_N73D exm111550 1 157516861 [T/C] NM_031281,NM_001195388 FCRL5,FCRL5 EXON Missense_R60Q,Missense_R60Q exm111551 1 157516913 [T/C] NM_031281,NM_001195388 FCRL5,FCRL5 EXON Missense_T43A,Missense_T43A exm111560 1 157522133 [A/G] NM_031281,NM_001195388 FCRL5,FCRL5 EXON Missense_L7S,Missense_L7S exm2231514 1 157545384 [T/C] NM_031282 FCRL4 EXON Missense_Y493C exm111568 1 157548323 [T/C] NM_031282 FCRL4 EXON Missense_K457R exm1720203 1 157548565 [A/G] NM_031282 FCRL4 EXON Missense_V452A exm2250023 1 157550119 [A/G] NM_031282 FCRL4 EXON Synonymous_D423D exm111580 1 157551321 [G/C] NM_031282 FCRL4 EXON Missense_G417R exm111582 1 157551333 [A/G] NM_031282 FCRL4 EXON Missense_R413W exm111584 1 157551336 [A/G] NM_031282 FCRL4 EXON Missense_R412C exm2231515 1 157551369 [A/G] NM_031282 FCRL4 EXON Missense_L401F exm111589 1 157551402 [T/C] NM_031282 FCRL4 EXON Missense_A390T exm111590 1 157551405 [T/C] NM_031282 FCRL4 EXON Missense_A389T exm2250024 1 157555998 [A/G] NM_031282 FCRL4 EXON Synonymous_Y365Y exm111599 1 157556009 [T/C] NM_031282 FCRL4 EXON Missense_D362N exm111601 1 157556027 [T/C] NM_031282 FCRL4 EXON Missense_G356R exm111602 1 157556042 [G/C] NM_031282 FCRL4 EXON Missense_Q351E exm111604 1 157556120 [A/G] NM_031282 FCRL4 EXON Nonsense_R325X exm111605 1 157556132 [A/C] NM_031282 FCRL4 EXON Missense_F321V exm111608 1 157556159 [T/C] NM_031282 FCRL4 EXON Missense_V312M exm111614 1 157557111 [A/C] NM_031282 FCRL4 EXON Missense_G268C exm111615 1 157557149 [T/C] NM_031282 FCRL4 EXON Missense_N255S exm111621 1 157557269 [T/C] NM_031282 FCRL4 EXON Missense_Q215R exm2277003 1 157557301 [T/C] NM_031282 FCRL4 EXON Synonymous_E204E exm111624 1 157557301 [A/C] NM_031282 FCRL4 EXON Missense_E204D exm111625 1 157557320 [A/G] NM_031282 FCRL4 EXON Missense_T198I exm111630 1 157557721 [A/G] NM_031282 FCRL4 EXON Nonsense_R166X exm1720226 1 157559038 [T/C] NM_031282 FCRL4 EXON Missense_R88Q exm111639 1 157559039 [A/G] NM_031282 FCRL4 EXON Missense_R88W exm111641 1 157559068 [T/C] NM_031282 FCRL4 EXON Missense_R78Q exm111644 1 157559075 [T/C] NM_031282 FCRL4 EXON Missense_E76K exm111648 1 157559122 [T/C] NM_031282 FCRL4 EXON Missense_R60Q exm111652 1 157559243 [T/C] NM_031282 FCRL4 EXON Missense_A20T exm111653 1 157559247 [T/C] NM_031282 FCRL4 EXON Synonymous_A18A exm111654 1 157566136 [A/G] NM_031282 FCRL4 EXON Missense_P12S exm111658 1 157567709 [A/G] NM_031282 FCRL4 EXON Missense_A9V exm111669 1 157648543 [T/C] NM_052939 FCRL3 EXON Missense_N721S exm111671 1 157648581 [C/G] NM_052939 FCRL3 EXON Missense_S708R exm111672 1 157648597 [G/C] NM_052939 FCRL3 EXON Missense_S703C exm111684 1 157650539 [A/G] NM_052939 FCRL3 EXON Missense_P660L exm111686 1 157650798 [T/C] NM_052939 FCRL3 EXON Missense_M644V exm111692 1 157650828 [T/C] NM_052939 FCRL3 EXON Missense_E634K exm111696 1 157653034 [T/C] NM_052939 FCRL3 EXON Missense_G604E exm111697 1 157653036 [T/C] NM_052939 FCRL3 Silent exm111702 1 157659624 [G/C] NM_052939 FCRL3 EXON Missense_A592P exm111704 1 157659642 [T/C] NM_052939 FCRL3 EXON Missense_V586I exm111720 1 157660227 [A/G] NM_052939 FCRL3 EXON Missense_S503F exm111722 1 157660246 [A/G] NM_052939 FCRL3 EXON Missense_C497R exm111728 1 157660318 [T/C] NM_052939 FCRL3 EXON Missense_V473M exm111740 1 157665394 [A/G] NM_052939 FCRL3 EXON Missense_P379L exm111741 1 157665830 [T/C] NM_052939 FCRL3 EXON Missense_I378V exm111745 1 157665952 [T/C] NM_052939 FCRL3 EXON Missense_R337H exm111749 1 157666027 [T/G] NM_052939 FCRL3 EXON Missense_A312D exm111750 1 157666043 [A/G] NM_052939 FCRL3 EXON Missense_L307F exm111751 1 157666047 [G/C] NM_052939 FCRL3 EXON Missense_M305I exm111752 1 157666073 [G/C] NM_052939 FCRL3 EXON Missense_G297R exm111753 1 157666076 [T/C] NM_052939 FCRL3 EXON Missense_G296R exm111756 1 157666085 [A/G] NM_052939 FCRL3 EXON Missense_R293W exm111759 1 157666938 [T/C] NM_052939 FCRL3 EXON Missense_R279H exm111760 1 157666939 [A/G] NM_052939 FCRL3 EXON Missense_R279C exm1720313 1 157667083 [C/G] NM_052939 FCRL3 EXON Missense_D231H exm111772 1 157667213 [T/C] NM_052939 FCRL3 EXON Synonymous_E187E exm111774 1 157667487 [A/G] NM_052939 FCRL3 EXON Missense_I174T exm111779 1 157667571 [A/G] NM_052939 FCRL3 EXON Missense_L146S exm111784 1 157667647 [A/G] NM_052939 FCRL3 EXON Nonsense_Q121X exm111786 1 157667667 [T/C] NM_052939 FCRL3 EXON Missense_D114G exm111790 1 157668194 [A/C] NM_052939 FCRL3 EXON Missense_V93G exm111799 1 157668347 [A/G] NM_052939 FCRL3 EXON Missense_L42P exm111802 1 157668390 [T/C] NM_052939 FCRL3 EXON Missense_N28D exm111803 1 157668414 [T/C] NM_052939 FCRL3 EXON Missense_A20T exm111804 1 157668419 [A/C] NM_052939 FCRL3 EXON Missense_G18V exm111810 1 157670250 [C/G] NM_052939 FCRL3 EXON Synonymous_L10L exm111816 1 157670278 [T/A] NM_052939 FCRL3 EXON Missense_M1K exm111824 1 157716528 [A/G] NM_030764 FCRL2 EXON Missense_X509Q exm111825 1 157716564 [T/C] NM_030764 FCRL2 EXON Missense_D497N exm111838 1 157718731 [G/C] NM_030764 FCRL2 EXON Missense_P443A exm111845 1 157719445 [T/G] NM_030764 FCRL2 EXON Missense_E434D exm111852 1 157736760 [A/T] NM_030764 FCRL2 EXON Synonymous_G388G exm111859 1 157737113 [A/G] NM_030764 FCRL2 EXON Missense_S357F exm1720359 1 157737231 [A/C] NM_030764 FCRL2 EXON Nonsense_E318X exm111869 1 157737287 [T/C] NM_030764 FCRL2 EXON Missense_R299H exm111881 1 157738309 [T/G] NM_030764 FCRL2 EXON Missense_L260M exm111882 1 157738326 [T/C] NM_030764 FCRL2 EXON Missense_R254H exm111883 1 157738374 [G/C] NM_030764 FCRL2 EXON Missense_S238C exm111884 1 157738438 [A/T] NM_030764 FCRL2 EXON Missense_T217S exm111885 1 157738458 [T/C] NM_030764 FCRL2 EXON Missense_R210Q exm111886 1 157738482 [T/A] NM_030764 FCRL2 EXON Missense_I202N exm111889 1 157739716 [G/C] NM_030764 FCRL2 EXON Missense_A179P exm2275502 1 157739752 [A/C] NM_030764 FCRL2 EXON Missense_V167L exm111892 1 157739773 [A/G] NM_030764 FCRL2 EXON Missense_P160S exm111896 1 157739860 [A/G] NM_030764 FCRL2 EXON Missense_R131W exm111904 1 157740270 [T/C] NM_030764 FCRL2 EXON Missense_Y80C exm111916 1 157745566 [T/C] NM_030764 FCRL2 EXON Synonymous_A17A exm111918 1 157765901 [T/G] NM_001159398,NM_001159397,NM_052938 FCRL1,FCRL1,FCRL1 EXON Missense_E425D,Silent,Missense_E426D exm111919 1 157765932 [T/C] NM_001159398,NM_001159397,NM_052938 FCRL1,FCRL1,FCRL1 EXON Missense_R415K,Silent,Missense_R416K exm111927 1 157767706 [A/C] NM_001159398,NM_001159397,NM_052938 FCRL1,FCRL1,FCRL1 EXON Missense_V380F,Silent,Missense_V380F exm111932 1 157768014 [T/G] NM_001159398,NM_001159397,NM_052938 FCRL1,FCRL1,FCRL1 EXON Missense_P351T,Missense_P312T,Missense_P351T exm111933 1 157768030 [C/G] NM_001159398,NM_001159397,NM_052938 FCRL1,FCRL1,FCRL1 EXON Missense_S345R,Missense_S306R,Missense_S345R exm111937 1 157769874 [T/G] NM_001159398,NM_001159397,NM_052938 FCRL1,FCRL1,FCRL1 EXON Synonymous_G335G,Synonymous_G296G,Synonymous_G335G exm111940 1 157771269 [T/C] NM_001159398,NM_001159397,NM_052938 FCRL1,FCRL1,FCRL1 EXON Missense_G329S,Silent,Missense_G329S exm111944 1 157771324 [A/C] NM_001159398,NM_001159397,NM_052938 FCRL1,FCRL1,FCRL1 EXON Missense_I310M,Silent,Missense_I310M exm2250027 1 157771739 [A/G] NM_001159398,NM_001159397,NM_052938 FCRL1,FCRL1,FCRL1 EXON Synonymous_A284A,Synonymous_A284A,Synonymous_A284A exm111950 1 157771801 [T/G] NM_001159398,NM_001159397,NM_052938 FCRL1,FCRL1,FCRL1 EXON Missense_L264I,Missense_L264I,Missense_L264I exm111955 1 157771855 [T/C] NM_001159398,NM_001159397,NM_052938 FCRL1,FCRL1,FCRL1 EXON Missense_D246N,Missense_D246N,Missense_D246N exm111967 1 157771966 [T/C] NM_001159398,NM_001159397,NM_052938 FCRL1,FCRL1,FCRL1 EXON Missense_I209V,Missense_I209V,Missense_I209V exm111968 1 157771971 [T/C] NM_001159398,NM_001159397,NM_052938 FCRL1,FCRL1,FCRL1 EXON Missense_R207H,Missense_R207H,Missense_R207H exm111975 1 157772175 [A/G] NM_001159398,NM_001159397,NM_052938 FCRL1,FCRL1,FCRL1 EXON Missense_T200I,Missense_T200I,Missense_T200I exm111976 1 157772289 [T/C] NM_001159398,NM_001159397,NM_052938 FCRL1,FCRL1,FCRL1 EXON Missense_R162H,Missense_R162H,Missense_R162H exm2250028 1 157772318 [T/C] NM_001159398,NM_001159397,NM_052938 FCRL1,FCRL1,FCRL1 EXON Synonymous_V152V,Synonymous_V152V,Synonymous_V152V exm111980 1 157772404 [T/C] NM_001159398,NM_001159397,NM_052938 FCRL1,FCRL1,FCRL1 EXON Missense_V124M,Missense_V124M,Missense_V124M exm111983 1 157772422 [A/G] NM_001159398,NM_001159397,NM_052938 FCRL1,FCRL1,FCRL1 EXON Nonsense_Q118X,Nonsense_Q118X,Nonsense_Q118X exm111984 1 157772443 [T/C] NM_001159398,NM_001159397,NM_052938 FCRL1,FCRL1,FCRL1 EXON Missense_A111T,Missense_A111T,Missense_A111T exm111988 1 157773646 [A/T] NM_001159398,NM_001159397,NM_052938 FCRL1,FCRL1,FCRL1 EXON Missense_I103K,Missense_I103K,Missense_I103K exm2273706 1 157773757 [A/C] NM_001159398,NM_001159397,NM_052938 FCRL1,FCRL1,FCRL1 EXON Missense_S66I,Missense_S66I,Missense_S66I exm111995 1 157773880 [A/G] NM_001159398,NM_001159397,NM_052938 FCRL1,FCRL1,FCRL1 EXON Missense_P25L,Missense_P25L,Missense_P25L exm112003 1 157789820 [A/G] NM_001159398,NM_001159397,NM_052938 FCRL1,FCRL1,FCRL1 EXON Missense_P3L,Missense_P3L,Missense_P3L exm112012 1 157803051 [T/G] NM_005894 CD5L EXON Missense_Q324K exm112014 1 157803101 [T/C] NM_005894 CD5L EXON Missense_R307H exm112016 1 157803108 [T/C] NM_005894 CD5L EXON Missense_V305I exm112025 1 157804260 [A/G] NM_005894 CD5L EXON Missense_P219S exm2277004 1 157804322 [A/C] NM_005894 CD5L EXON Missense_R198L exm112039 1 157805650 [T/A] NM_005894 CD5L EXON Missense_D117E exm112041 1 157805673 [A/C] NM_005894 CD5L EXON Nonsense_E110X exm112046 1 157805825 [A/G] NM_005894 CD5L EXON Missense_A59V exm112054 1 157809185 [C/G] NM_005894 CD5L EXON Missense_P15R exm112060 1 158045912 [T/C] NM_018240 KIRREL EXON Missense_T21I exm112063 1 158045965 [A/G] NM_018240 KIRREL EXON Missense_V39M exm112067 1 158047810 [A/G] NM_018240 KIRREL EXON Missense_A78T exm112068 1 158047816 [A/G] NM_018240 KIRREL EXON Missense_A80T exm112070 1 158047909 [T/C] NM_018240 KIRREL EXON Missense_R111W exm2268769 1 158049762 [T/C] NM_018240 KIRREL Silent exm2263864 1 158058109 [A/C] NM_018240 KIRREL Silent exm112102 1 158059417 [T/C] NM_018240 KIRREL EXON Synonymous_N390N exm112108 1 158061178 [A/G] NM_018240 KIRREL EXON Missense_V435M exm112120 1 158063551 [T/C] NM_018240 KIRREL EXON Missense_S573L exm2250031 1 158064111 [A/G] NM_018240 KIRREL EXON Synonymous_K576K exm112123 1 158064139 [A/C] NM_018240 KIRREL EXON Missense_R586S exm112135 1 158064530 [T/C] NM_018240 KIRREL EXON Missense_R632C exm112155 1 158064830 [A/C] NM_018240 KIRREL EXON Missense_T732P exm112166 1 158151246 [C/G] NM_001766 CD1D EXON Synonymous_V21V exm112171 1 158151305 [C/G] NM_001766 CD1D EXON Missense_W41S exm112173 1 158151328 [T/C] NM_001766 CD1D EXON Missense_W49R exm112174 1 158151347 [T/C] NM_001766 CD1D EXON Missense_T55M exm112175 1 158151373 [A/T] NM_001766 CD1D EXON Missense_T64S exm112179 1 158151505 [T/G] NM_001766 CD1D EXON Missense_L108V exm112182 1 158151845 [T/G] NM_001766 CD1D EXON Missense_A118S exm1720657 1 158151902 [T/C] NM_001766 CD1D EXON Nonsense_Q137X exm112195 1 158152716 [A/G] NM_001766 CD1D EXON Missense_R219H exm112205 1 158152910 [A/G] NM_001766 CD1D EXON Missense_S284G exm112209 1 158152941 [A/G] NM_001766 CD1D EXON Missense_Y294C exm112223 1 158224516 [T/C] NM_001763 CD1A EXON Synonymous_D19D exm112226 1 158224904 [T/C] NM_001763 CD1A EXON Missense_T30I exm112227 1 158224908 [A/G] NM_001763 CD1A EXON Nonsense_W31X exm112228 1 158224912 [A/G] NM_001763 CD1A EXON Missense_A33T exm112233 1 158225019 [C/G] NM_001763 CD1A EXON Missense_C68W exm112235 1 158225050 [A/G] NM_001763 CD1A EXON Missense_E79K exm112237 1 158225083 [T/C] NM_001763 CD1A EXON Missense_R90C exm112244 1 158225119 [A/G] NM_001763 CD1A EXON Missense_A102T exm112253 1 158226022 [A/G] NM_001763 CD1A EXON Missense_R185H exm112265 1 158226716 [T/C] NM_001763 CD1A EXON Nonsense_R249X exm112267 1 158226758 [T/C] NM_001763 CD1A EXON Missense_R263C exm112274 1 158226848 [T/C] NM_001763 CD1A EXON Missense_Y293H exm112284 1 158227297 [T/C] NM_001763 CD1A EXON Missense_R324C exm112307 1 158261068 [A/G] NM_001765 CD1C EXON Missense_H69R exm112308 1 158261071 [A/C] NM_001765 CD1C EXON Missense_N70T exm112313 1 158261152 [A/G] NM_001765 CD1C EXON Missense_R97Q exm112314 1 158261185 [T/C] NM_001765 CD1C EXON Missense_S108L exm112316 1 158261888 [T/C] NM_001765 CD1C EXON Nonsense_Q115X exm112317 1 158261898 [T/C] NM_001765 CD1C EXON Missense_A118V exm112329 1 158262413 [A/G] NM_001765 CD1C EXON Missense_R213H exm112336 1 158262544 [A/G] NM_001765 CD1C EXON Missense_N257D exm112339 1 158262619 [T/G] NM_001765 CD1C EXON Missense_V282L exm112342 1 158262623 [C/G] NM_001765 CD1C EXON Missense_R283T exm112345 1 158263011 [T/C] NM_001765 CD1C EXON Missense_F300S exm112347 1 158263062 [T/C] NM_001765 CD1C EXON Missense_I317T exm1720754 1 158298712 [A/G] NM_001764 CD1B EXON Missense_R327W exm112365 1 158298714 [T/C] NM_001764 CD1B EXON Missense_R326H exm112386 1 158299307 [T/C] NM_001764 CD1B EXON Missense_G247S exm112392 1 158299688 [T/A] NM_001764 CD1B EXON Nonsense_Y187X exm112393 1 158299692 [T/C] NM_001764 CD1B EXON Missense_R186Q exm112407 1 158300604 [T/C] NM_001764 CD1B EXON Missense_G104S exm112412 1 158300684 [T/C] NM_001764 CD1B EXON Missense_S77N exm1720764 1 158301161 [T/C] NM_001764 CD1B EXON Missense_S18N exm112427 1 158323779 [A/G] NM_001185114,NM_001185113,NM_001042584,NM_001042583,NM_001042586,NM_001042585,NM_001185110,NM_001185112,NM_030893,NM_001185107,NM_001042587,NM_001185108,NM_001185115 CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E EXON Missense_M1V,Missense_M1V,Missense_M1V,Missense_M1V,Missense_M1V,Missense_M1V,Missense_M1V,Missense_M1V,Missense_M1V,Missense_M1V,Missense_M1V,Missense_M1V,Missense_M1V exm112432 1 158324173 [A/G] NM_001185114,NM_001185113,NM_001042584,NM_001042583,NM_001042586,NM_001042585,NM_001185110,NM_001185112,NM_030893,NM_001185107,NM_001042587,NM_001185108,NM_001185115 CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E EXON Silent,Silent,Missense_Q22R,Missense_Q22R,Silent,Missense_Q22R,Silent,Silent,Missense_Q22R,Missense_Q22R,Silent,Missense_Q22R,Missense_Q22R exm112436 1 158324253 [A/G] NM_001185114,NM_001185113,NM_001042584,NM_001042583,NM_001042586,NM_001042585,NM_001185110,NM_001185112,NM_030893,NM_001185107,NM_001042587,NM_001185108,NM_001185115 CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E EXON Silent,Silent,Missense_S49G,Missense_S49G,Silent,Missense_S49G,Silent,Silent,Missense_S49G,Missense_S49G,Silent,Missense_S49G,Missense_S49G exm112437 1 158324262 [T/C] NM_001185114,NM_001185113,NM_001042584,NM_001042583,NM_001042586,NM_001042585,NM_001185110,NM_001185112,NM_030893,NM_001185107,NM_001042587,NM_001185108,NM_001185115 CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E EXON Silent,Silent,Missense_H52Y,Missense_H52Y,Silent,Missense_H52Y,Silent,Silent,Missense_H52Y,Missense_H52Y,Silent,Missense_H52Y,Missense_H52Y exm112444 1 158324413 [A/G] NM_001185114,NM_001185113,NM_001042584,NM_001042583,NM_001042586,NM_001042585,NM_001185110,NM_001185112,NM_030893,NM_001185107,NM_001042587,NM_001185108,NM_001185115 CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E EXON Silent,Silent,Missense_H102R,Missense_H102R,Silent,Missense_H102R,Silent,Silent,Missense_H102R,Missense_H102R,Silent,Missense_H102R,Missense_H102R exm112445 1 158324425 [A/G] NM_001185114,NM_001185113,NM_001042584,NM_001042583,NM_001042586,NM_001042585,NM_001185110,NM_001185112,NM_030893,NM_001185107,NM_001042587,NM_001185108,NM_001185115 CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E EXON Silent,Silent,Missense_Q106R,Missense_Q106R,Silent,Missense_Q106R,Silent,Silent,Missense_Q106R,Missense_Q106R,Silent,Missense_Q106R,Missense_Q106R exm112452 1 158325180 [A/G] NM_001185114,NM_001185113,NM_001042584,NM_001042583,NM_001042586,NM_001042585,NM_001185110,NM_001185112,NM_030893,NM_001185107,NM_001042587,NM_001185108,NM_001185115 CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E EXON Missense_S50N,Silent,Missense_S149N,Missense_S149N,Silent,Missense_S149N,Silent,Silent,Missense_S149N,Silent,Silent,Silent,Silent exm112453 1 158325224 [T/C] NM_001185114,NM_001185113,NM_001042584,NM_001042583,NM_001042586,NM_001042585,NM_001185110,NM_001185112,NM_030893,NM_001185107,NM_001042587,NM_001185108,NM_001185115 CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E EXON Missense_R65W,Silent,Missense_R164W,Missense_R164W,Silent,Missense_R164W,Silent,Silent,Missense_R164W,Silent,Silent,Silent,Silent exm112456 1 158325318 [T/C] NM_001185114,NM_001185113,NM_001042584,NM_001042583,NM_001042586,NM_001042585,NM_001185110,NM_001185112,NM_030893,NM_001185107,NM_001042587,NM_001185108,NM_001185115 CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E EXON Missense_A96V,Silent,Missense_A195V,Missense_A195V,Silent,Missense_A195V,Silent,Silent,Missense_A195V,Silent,Silent,Silent,Silent exm112480 1 158326335 [A/T] NM_001185114,NM_001185113,NM_001042584,NM_001042583,NM_001042586,NM_001042585,NM_001185110,NM_001185112,NM_030893,NM_001185107,NM_001042587,NM_001185108,NM_001185115 CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E EXON Missense_T219S,Missense_T74S,Missense_Y283F,Missense_T318S,Missense_T129S,Missense_T263S,Missense_T74S,Missense_T129S,Missense_T318S,Missense_T228S,Missense_Y94F,Missense_T173S,Missense_T228S exm1720795 1 158326349 [T/G] NM_001185114,NM_001185113,NM_001042584,NM_001042583,NM_001042586,NM_001042585,NM_001185110,NM_001185112,NM_030893,NM_001185107,NM_001042587,NM_001185108,NM_001185115 CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E EXON Missense_L223F,Missense_L78F,Missense_G288C,Missense_L322F,Missense_L133F,Missense_L267F,Missense_L78F,Missense_L133F,Missense_L322F,Missense_L232F,Missense_G99C,Missense_L177F,Missense_L232F exm112484 1 158326525 [A/C] NM_001185114,NM_001185113,NM_001042584,NM_001042583,NM_001042586,NM_001042585,NM_001185110,NM_001185112,NM_030893,NM_001185107,NM_001042587,NM_001185108,NM_001185115 CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E EXON Missense_K237Q,Missense_K92Q,Silent,Silent,Silent,Silent,Silent,Missense_K147Q,Missense_K336Q,Missense_K246Q,Silent,Silent,Silent exm112486 1 158326553 [A/G] NM_001185114,NM_001185113,NM_001042584,NM_001042583,NM_001042586,NM_001042585,NM_001185110,NM_001185112,NM_030893,NM_001185107,NM_001042587,NM_001185108,NM_001185115 CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E EXON Missense_S246N,Missense_S101N,Silent,Silent,Silent,Silent,Silent,Missense_S156N,Missense_S345N,Missense_S255N,Silent,Silent,Silent exm112490 1 158326645 [A/G] NM_001185114,NM_001185113,NM_001042584,NM_001042583,NM_001042586,NM_001042585,NM_001185110,NM_001185112,NM_030893,NM_001185107,NM_001042587,NM_001185108,NM_001185115 CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E EXON Missense_V277I,Missense_V132I,Silent,Missense_V364I,Missense_V175I,Missense_V309I,Missense_V120I,Missense_V187I,Missense_V376I,Missense_V286I,Silent,Missense_V219I,Missense_V274I exm112498 1 158368321 [C/G] NM_001004475 OR10T2 EXON Missense_K312N exm112502 1 158368392 [T/C] NM_001004475 OR10T2 EXON Missense_V289I exm112516 1 158368679 [T/G] NM_001004475 OR10T2 EXON Missense_T193N exm112520 1 158368716 [C/G] NM_001004475 OR10T2 EXON Missense_D181H exm112521 1 158368754 [T/C] NM_001004475 OR10T2 EXON Missense_R168H exm112522 1 158368755 [A/G] NM_001004475 OR10T2 EXON Missense_R168C exm112524 1 158368794 [A/G] NM_001004475 OR10T2 EXON Missense_F155L exm112525 1 158368846 [T/C] NM_001004475 OR10T2 EXON Missense_I137M exm112528 1 158368917 [A/G] NM_001004475 OR10T2 EXON Missense_L114F exm112530 1 158368964 [T/C] NM_001004475 OR10T2 EXON Missense_C98Y exm112531 1 158368974 [A/G] NM_001004475 OR10T2 EXON Missense_F95L exm112534 1 158369025 [T/C] NM_001004475 OR10T2 EXON Missense_I78V exm112535 1 158369040 [A/G] NM_001004475 OR10T2 EXON Missense_C73R exm112537 1 158369060 [A/G] NM_001004475 OR10T2 EXON Missense_I66T exm112538 1 158369061 [T/C] NM_001004475 OR10T2 EXON Missense_I66V exm112539 1 158369064 [A/G] NM_001004475 OR10T2 EXON Missense_F65L exm112543 1 158369105 [T/C] NM_001004475 OR10T2 EXON Missense_R51H exm112544 1 158369108 [A/G] NM_001004475 OR10T2 EXON Missense_I50T exm1720834 1 158369112 [T/C] NM_001004475 OR10T2 EXON Missense_V49I exm112546 1 158369129 [T/C] NM_001004475 OR10T2 EXON Missense_N43S exm112547 1 158369138 [A/G] NM_001004475 OR10T2 EXON Missense_L40P exm1720835 1 158369177 [A/G] NM_001004475 OR10T2 EXON Missense_L27P exm112554 1 158369210 [A/G] NM_001004475 OR10T2 EXON Missense_V16A exm112561 1 158389793 [T/C] NM_001004476 OR10K2 EXON Missense_M288I exm112566 1 158389863 [T/C] NM_001004476 OR10K2 EXON Missense_N265S exm112569 1 158389900 [T/C] NM_001004476 OR10K2 EXON Missense_G253S exm112572 1 158389993 [A/G] NM_001004476 OR10K2 EXON Missense_L222F exm112573 1 158390005 [A/G] NM_001004476 OR10K2 EXON Missense_Y218H exm112575 1 158390028 [C/G] NM_001004476 OR10K2 EXON Missense_P210R exm112576 1 158390035 [T/C] NM_001004476 OR10K2 EXON Missense_A208T exm112584 1 158390115 [A/G] NM_001004476 OR10K2 EXON Missense_I181T exm112585 1 158390119 [T/C] NM_001004476 OR10K2 EXON Missense_D180N exm112588 1 158390221 [A/C] NM_001004476 OR10K2 EXON Missense_A146S exm112590 1 158390229 [A/C] NM_001004476 OR10K2 EXON Missense_G143V exm112616 1 158390574 [A/G] NM_001004476 OR10K2 EXON Missense_F28S exm112648 1 158435391 [A/G] NM_001004473 OR10K1 EXON Missense_V14I exm112650 1 158435406 [T/C] NM_001004473 OR10K1 EXON Missense_S19P exm112654 1 158435476 [A/G] NM_001004473 OR10K1 EXON Missense_N42S exm112667 1 158435658 [T/C] NM_001004473 OR10K1 EXON Missense_S103P exm1720883 1 158435704 [T/C] NM_001004473 OR10K1 EXON Missense_M118T exm112668 1 158435716 [A/G] NM_001004473 OR10K1 EXON Missense_R122H exm112676 1 158435866 [A/G] NM_001004473 OR10K1 EXON Missense_N172S exm112679 1 158435928 [A/G] NM_001004473 OR10K1 EXON Missense_G193S exm112685 1 158436088 [T/C] NM_001004473 OR10K1 EXON Missense_I246T exm112690 1 158436128 [A/C] NM_001004473 OR10K1 EXON Nonsense_Y259X exm112703 1 158436280 [A/G] NM_001004473 OR10K1 EXON Missense_Y310C exm112711 1 158449749 [A/G] NM_001004472 OR10R2 EXON Missense_M28V exm112716 1 158449839 [A/G] NM_001004472 OR10R2 EXON Missense_I58V exm112718 1 158449854 [A/G] NM_001004472 OR10R2 EXON Missense_V63I exm112719 1 158449899 [T/C] NM_001004472 OR10R2 EXON Missense_P78S exm112734 1 158450142 [T/C] NM_001004472 OR10R2 EXON Nonsense_Q159X exm112735 1 158450145 [A/G] NM_001004472 OR10R2 EXON Missense_V160M exm112741 1 158450238 [A/G] NM_001004472 OR10R2 EXON Missense_A191T exm112743 1 158450248 [T/A] NM_001004472 OR10R2 EXON Missense_V194D exm112747 1 158450314 [A/G] NM_001004472 OR10R2 EXON Missense_E216G exm112752 1 158450382 [T/C] NM_001004472 OR10R2 EXON Missense_L239F exm112754 1 158450412 [T/C] NM_001004472 OR10R2 EXON Missense_P249S exm112757 1 158450430 [T/C] NM_001004472 OR10R2 EXON Missense_R255W exm112761 1 158450451 [A/G] NM_001004472 OR10R2 EXON Missense_A262T exm112765 1 158450529 [A/T] NM_001004472 OR10R2 EXON Missense_S288T exm112766 1 158450547 [A/G] NM_001004472 OR10R2 EXON Missense_V294M exm112767 1 158450551 [T/C] NM_001004472 OR10R2 EXON Missense_T295M exm112769 1 158450563 [T/C] NM_001004472 OR10R2 EXON Missense_T299M exm2263837 1 158488899 [A/C] exm112779 1 158516967 [A/G] NM_001005189 OR6Y1 EXON Missense_I310T exm2231538 1 158517158 [A/C] NM_001005189 OR6Y1 EXON Missense_C246W exm112790 1 158517181 [A/G] NM_001005189 OR6Y1 EXON Missense_R239C exm112792 1 158517226 [T/C] NM_001005189 OR6Y1 EXON Missense_A224T exm112794 1 158517259 [A/C] NM_001005189 OR6Y1 EXON Missense_A213S exm2231539 1 158517322 [T/C] NM_001005189 OR6Y1 EXON Missense_V192I exm112799 1 158517376 [A/G] NM_001005189 OR6Y1 EXON Missense_C174R exm112800 1 158517391 [T/C] NM_001005189 OR6Y1 EXON Missense_A169T exm112801 1 158517415 [A/C] NM_001005189 OR6Y1 EXON Missense_A161S exm112802 1 158517417 [A/G] NM_001005189 OR6Y1 EXON Missense_T160I exm112803 1 158517442 [T/C] NM_001005189 OR6Y1 EXON Missense_G152R exm112805 1 158517467 [G/C] NM_001005189 OR6Y1 EXON Missense_N143K exm112806 1 158517471 [A/G] NM_001005189 OR6Y1 EXON Missense_T142I exm112808 1 158517501 [T/C] NM_001005189 OR6Y1 EXON Missense_C132Y exm112810 1 158517517 [A/G] NM_001005189 OR6Y1 EXON Missense_R127C exm112811 1 158517543 [T/A] NM_001005189 OR6Y1 EXON Missense_I118N exm112812 1 158517558 [A/G] NM_001005189 OR6Y1 EXON Missense_V113A exm112813 1 158517561 [A/G] NM_001005189 OR6Y1 EXON Missense_F112S exm112815 1 158517585 [A/G] NM_001005189 OR6Y1 EXON Missense_T104I exm112816 1 158517591 [A/C] NM_001005189 OR6Y1 EXON Missense_C102F exm112819 1 158517675 [A/C] NM_001005189 OR6Y1 EXON Missense_L74R exm112822 1 158517706 [T/C] NM_001005189 OR6Y1 EXON Missense_M64V exm112823 1 158517763 [C/G] NM_001005189 OR6Y1 EXON Missense_L45V exm112827 1 158517859 [T/C] NM_001005189 OR6Y1 EXON Missense_V13M exm112828 1 158517865 [A/G] NM_001005189 OR6Y1 EXON Missense_H11Y exm112830 1 158517891 [A/G] NM_001005189 OR6Y1 EXON Missense_T2I exm112833 1 158532447 [A/C] NM_001160325 OR6P1 EXON Missense_Q316H exm112835 1 158532460 [A/G] NM_001160325 OR6P1 EXON Missense_P312L exm112839 1 158532597 [T/G] NM_001160325 OR6P1 EXON Nonsense_Y266X exm112840 1 158532605 [A/C] NM_001160325 OR6P1 EXON Missense_A264S exm112841 1 158532607 [T/C] NM_001160325 OR6P1 EXON Missense_R263Q exm112842 1 158532614 [A/G] NM_001160325 OR6P1 EXON Missense_R261W exm112844 1 158532694 [T/C] NM_001160325 OR6P1 EXON Missense_R234H exm112845 1 158532706 [A/G] NM_001160325 OR6P1 EXON Missense_T230M exm112846 1 158532727 [A/G] NM_001160325 OR6P1 EXON Missense_A223V exm112848 1 158532842 [A/G] NM_001160325 OR6P1 EXON Missense_L185F exm112850 1 158532908 [T/C] NM_001160325 OR6P1 EXON Missense_I163V exm112852 1 158532925 [T/A] NM_001160325 OR6P1 EXON Missense_M157K exm112857 1 158533111 [A/T] NM_001160325 OR6P1 EXON Missense_V95E exm112861 1 158533171 [T/C] NM_001160325 OR6P1 EXON Missense_N75S exm112862 1 158533219 [A/C] NM_001160325 OR6P1 EXON Missense_M59R exm112864 1 158533248 [T/A] NM_001160325 OR6P1 EXON Synonymous_I49I exm2250036 1 158533248 [T/A] NM_001160325 OR6P1 EXON Synonymous_I49I exm112875 1 158548803 [C/G] NM_001004477 OR10X1 EXON Missense_P296R exm112878 1 158548903 [T/C] NM_001004477 OR10X1 EXON Missense_V263M exm112882 1 158549011 [A/G] NM_001004477 OR10X1 EXON Missense_L227F exm1720940 1 158549043 [A/G] NM_001004477 OR10X1 EXON Missense_T216I exm112888 1 158549046 [A/G] NM_001004477 OR10X1 EXON Missense_I215T exm112893 1 158549106 [A/C] NM_001004477 OR10X1 EXON Missense_C195F exm112896 1 158549151 [A/C] NM_001004477 OR10X1 EXON Missense_F180C exm112897 1 158549152 [A/G] NM_001004477 OR10X1 EXON Missense_F180L exm112899 1 158549176 [A/G] NM_001004477 OR10X1 EXON Missense_S172P exm112906 1 158549277 [T/C] NM_001004477 OR10X1 EXON Missense_R138H exm112909 1 158549339 [T/C] NM_001004477 OR10X1 EXON Missense_M117I exm1720944 1 158549370 [G/C] NM_001004477 OR10X1 EXON Missense_S107T exm112914 1 158549421 [A/G] NM_001004477 OR10X1 EXON Missense_T90M exm112916 1 158549449 [A/C] NM_001004477 OR10X1 EXON Missense_A81S exm112919 1 158549492 [T/C] NM_001004477 OR10X1 EXON Nonsense_W66X exm112921 1 158549511 [A/G] NM_001004477 OR10X1 EXON Missense_I60T exm112923 1 158549538 [T/C] NM_001004477 OR10X1 EXON Missense_Y51C exm112926 1 158549572 [A/G] NM_001004477 OR10X1 EXON Nonsense_Q40X exm112927 1 158549577 [T/C] NM_001004477 OR10X1 EXON Missense_H38R exm112928 1 158549595 [T/C] NM_001004477 OR10X1 EXON Missense_G32D exm112941 1 158576394 [A/C] NM_001004478 OR10Z1 EXON Missense_H56N exm112944 1 158576472 [T/C] NM_001004478 OR10Z1 EXON Missense_L82F exm112957 1 158576661 [A/G] NM_001004478 OR10Z1 EXON Missense_V145I exm112958 1 158576668 [T/C] NM_001004478 OR10Z1 EXON Missense_T147I exm112959 1 158576687 [A/C] NM_001004478 OR10Z1 EXON Nonsense_Y153X exm112961 1 158576712 [T/G] NM_001004478 OR10Z1 EXON Missense_V162F exm112962 1 158576757 [T/A] NM_001004478 OR10Z1 EXON Missense_F177I exm112964 1 158576809 [T/C] NM_001004478 OR10Z1 EXON Missense_P194L exm112967 1 158576919 [A/G] NM_001004478 OR10Z1 EXON Missense_A231T exm112970 1 158576934 [A/G] NM_001004478 OR10Z1 EXON Missense_K236E exm112973 1 158576973 [A/G] NM_001004478 OR10Z1 EXON Missense_I249V exm112975 1 158577109 [A/C] NM_001004478 OR10Z1 EXON Missense_N294T exm112976 1 158577120 [C/G] NM_001004478 OR10Z1 EXON Missense_Q298E exm112985 1 158581131 [A/G] NM_003126 SPTA1 EXON Missense_Y2395H exm112988 1 158582637 [A/C] NM_003126 SPTA1 EXON Missense_K2368N exm112991 1 158582673 [T/G] NM_003126 SPTA1 EXON Missense_E2356D exm112995 1 158583532 [T/A] NM_003126 SPTA1 EXON Missense_L2323Q exm112996 1 158583604 [A/C] NM_003126 SPTA1 EXON Missense_C2299F exm113002 1 158583650 [T/C] NM_003126 SPTA1 EXON Missense_D2284N exm113004 1 158584091 [A/G] NM_003126 SPTA1 EXON Missense_I2265T exm113014 1 158585122 [T/G] NM_003126 SPTA1 EXON Missense_E2224D exm113021 1 158587368 [T/C] NM_003126 SPTA1 EXON Missense_K2187E exm113027 1 158587844 [A/G] NM_003126 SPTA1 EXON Missense_A2178V exm113029 1 158589105 [T/C] NM_003126 SPTA1 EXON Missense_Q2146R exm113030 1 158589121 [A/G] NM_003126 SPTA1 EXON Missense_R2141W exm113031 1 158589991 [T/C] NM_003126 SPTA1 EXON Missense_R2129K exm113037 1 158590126 [T/G] NM_003126 SPTA1 EXON Missense_D2084A exm113041 1 158590241 [T/C] NM_003126 SPTA1 EXON Missense_V2046M exm113048 1 158592846 [T/C] NM_003126 SPTA1 EXON Missense_R2016H exm113049 1 158592847 [A/G] NM_003126 SPTA1 EXON Missense_R2016C exm113051 1 158592867 [T/C] NM_003126 SPTA1 EXON Missense_R2009H exm113056 1 158592901 [G/C] NM_003126 SPTA1 EXON Missense_A1998P exm113061 1 158592978 [T/G] NM_003126 SPTA1 EXON Missense_T1972N exm113063 1 158592982 [T/C] NM_003126 SPTA1 EXON Missense_D1971N exm113072 1 158596683 [T/C] NM_003126 SPTA1 EXON Missense_D1927N exm2250038 1 158596684 [A/G] NM_003126 SPTA1 EXON Synonymous_D1926D exm113075 1 158597458 [T/C] NM_003126 SPTA1 EXON Missense_R1874Q exm113082 1 158604391 [T/C] NM_003126 SPTA1 EXON Missense_N1836S exm2231546 1 158605725 [A/G] NM_003126 SPTA1 EXON Missense_L1804F exm113088 1 158605757 [T/C] NM_003126 SPTA1 EXON Missense_R1793Q exm113112 1 158607931 [T/C] NM_003126 SPTA1 EXON Missense_R1694H exm113113 1 158607935 [T/G] NM_003126 SPTA1 EXON Missense_K1693Q exm113131 1 158612205 [T/A] NM_003126 SPTA1 EXON Missense_M1578K exm113132 1 158612227 [A/C] NM_003126 SPTA1 EXON Missense_C1571G exm113133 1 158612236 [A/G] NM_003126 SPTA1 EXON Missense_C1568R exm113134 1 158612244 [A/T] NM_003126 SPTA1 EXON Missense_L1565Q exm-rs857721 1 158612548 [A/T] NM_003126 SPTA1 Silent exm113142 1 158612618 [G/C] NM_003126 SPTA1 EXON Missense_A1531P exm113144 1 158612645 [T/C] NM_003126 SPTA1 EXON Missense_T1522A exm113148 1 158612719 [T/C] NM_003126 SPTA1 EXON Missense_G1497E exm113149 1 158612732 [A/G] NM_003126 SPTA1 EXON Missense_R1493W exm113151 1 158612756 [A/G] NM_003126 SPTA1 EXON Missense_L1485F exm113154 1 158613125 [A/G] NM_003126 SPTA1 EXON Missense_R1477C exm113157 1 158613136 [A/G] NM_003126 SPTA1 EXON Missense_T1473M exm113167 1 158614141 [A/G] NM_003126 SPTA1 EXON Missense_R1414C exm113174 1 158615292 [A/C] NM_003126 SPTA1 EXON Missense_R1330I exm113179 1 158615341 [A/G] NM_003126 SPTA1 EXON Missense_S1314P exm113180 1 158615349 [A/G] NM_003126 SPTA1 EXON Missense_M1311T exm113183 1 158617384 [A/G] NM_003126 SPTA1 EXON Missense_R1281C exm113184 1 158617386 [T/C] NM_003126 SPTA1 EXON Missense_D1280G exm113185 1 158617395 [T/C] NM_003126 SPTA1 EXON Missense_R1277H exm113186 1 158617396 [A/G] NM_003126 SPTA1 EXON Missense_R1277C exm113190 1 158617483 [A/G] NM_003126 SPTA1 EXON Missense_R1248W exm2250039 1 158618320 [A/G] NM_003126 SPTA1 EXON Synonymous_D1231D exm113197 1 158618391 [T/C] NM_003126 SPTA1 EXON Missense_A1208T exm113198 1 158618424 [C/G] NM_003126 SPTA1 EXON Missense_E1197Q exm113204 1 158619728 [A/C] NM_003126 SPTA1 EXON Missense_S1163A exm113206 1 158621197 [A/G] NM_003126 SPTA1 EXON Missense_F1146S exm113209 1 158621236 [G/C] NM_003126 SPTA1 EXON Missense_R1133P exm113210 1 158621245 [T/C] NM_003126 SPTA1 EXON Missense_N1130S exm113213 1 158622275 [G/C] NM_003126 SPTA1 EXON Missense_K1119N exm113217 1 158622402 [T/C] NM_003126 SPTA1 EXON Missense_R1077H exm113222 1 158623085 [A/C] NM_003126 SPTA1 EXON Missense_R1056L exm113223 1 158623092 [T/A] NM_003126 SPTA1 EXON Missense_T1054S exm113224 1 158623103 [A/G] NM_003126 SPTA1 EXON Missense_P1050L exm113228 1 158623179 [T/C] NM_003126 SPTA1 EXON Missense_I1025V exm113230 1 158623190 [A/T] NM_003126 SPTA1 EXON Missense_D1021V exm113235 1 158624528 [T/G] NM_003126 SPTA1 EXON Missense_A970D exm113239 1 158626382 [A/G] NM_003126 SPTA1 EXON Missense_A957V exm113250 1 158627400 [T/C] NM_003126 SPTA1 EXON Missense_R891Q exm1721099 1 158627419 [A/G] NM_003126 SPTA1 EXON Missense_R885C exm113255 1 158627464 [T/C] NM_003126 SPTA1 EXON Missense_V870M exm113256 1 158627472 [T/G] NM_003126 SPTA1 EXON Missense_A867E exm113260 1 158631106 [G/C] NM_003126 SPTA1 EXON Missense_T853R exm113264 1 158631144 [C/G] NM_003126 SPTA1 EXON Missense_E840D exm113266 1 158631158 [T/C] NM_003126 SPTA1 EXON Missense_R836G exm113270 1 158632531 [T/C] NM_003126 SPTA1 EXON Missense_I809V exm113273 1 158632583 [T/G] NM_003126 SPTA1 EXON Missense_D791E exm113276 1 158632660 [T/C] NM_003126 SPTA1 EXON Missense_A766T exm113280 1 158636110 [T/C] NM_003126 SPTA1 EXON Missense_R739H exm113282 1 158636144 [T/C] NM_003126 SPTA1 EXON Missense_K728E exm113286 1 158636224 [T/C] NM_003126 SPTA1 EXON Missense_R701H exm2275503 1 158636225 [A/G] NM_003126 SPTA1 EXON Missense_R701C exm1721122 1 158637666 [C/G] NM_003126 SPTA1 EXON Missense_E674Q exm113292 1 158637704 [T/C] NM_003126 SPTA1 EXON Missense_R661H exm113293 1 158637728 [T/C] NM_003126 SPTA1 EXON Missense_Y653C exm113298 1 158639214 [T/C] NM_003126 SPTA1 EXON Missense_D606G exm113303 1 158639300 [A/C] NM_003126 SPTA1 EXON Missense_L577F exm113304 1 158639328 [T/C] NM_003126 SPTA1 EXON Missense_R568H exm113306 1 158639343 [T/C] NM_003126 SPTA1 EXON Missense_R563Q exm113308 1 158639501 [T/C] NM_003126 SPTA1 EXON Missense_G559R exm113309 1 158639504 [T/C] NM_003126 SPTA1 EXON Missense_D558N exm113314 1 158641134 [A/G] NM_003126 SPTA1 EXON Missense_I533T exm113321 1 158641242 [T/G] NM_003126 SPTA1 EXON Missense_A497D exm113322 1 158641243 [A/C] NM_003126 SPTA1 EXON Missense_A497S exm113326 1 158641941 [C/G] NM_003126 SPTA1 EXON Missense_D466H exm113331 1 158644127 [A/G] NM_003126 SPTA1 EXON Missense_R448W exm113344 1 158644397 [T/C] NM_003126 SPTA1 EXON Missense_N394S exm113346 1 158645965 [A/T] NM_003126 SPTA1 EXON Missense_T360S exm113347 1 158645974 [A/C] NM_003126 SPTA1 EXON Missense_A357S exm113358 1 158647584 [T/G] NM_003126 SPTA1 EXON Missense_P285T exm113363 1 158648210 [T/C] NM_003126 SPTA1 EXON Missense_N265D exm113365 1 158648228 [T/C] NM_003126 SPTA1 EXON Missense_A259T exm113367 1 158648255 [A/G] NM_003126 SPTA1 EXON Missense_R250C exm113370 1 158648324 [T/C] NM_003126 SPTA1 EXON Missense_E227K exm1721153 1 158650431 [A/G] NM_003126 SPTA1 EXON Missense_L207P exm113379 1 158651394 [T/C] NM_003126 SPTA1 EXON Missense_D152N exm113380 1 158651396 [T/C] NM_003126 SPTA1 EXON Missense_G151D exm113385 1 158651438 [T/C] NM_003126 SPTA1 EXON Missense_R137H exm113386 1 158651447 [T/C] NM_003126 SPTA1 EXON Missense_E134G exm113387 1 158651457 [T/C] NM_003126 SPTA1 EXON Missense_A131T exm113389 1 158653178 [T/C] NM_003126 SPTA1 EXON Missense_A125T exm2231555 1 158653225 [A/G] NM_003126 SPTA1 EXON Missense_S109F exm113396 1 158654938 [A/G] NM_003126 SPTA1 EXON Missense_I75T exm113405 1 158655115 [T/A] NM_003126 SPTA1 EXON Missense_K16M exm113406 1 158655129 [G/C] NM_003126 SPTA1 EXON Missense_E11D exm113407 1 158655137 [A/C] NM_003126 SPTA1 EXON Missense_V9F exm2231556 1 158669524 [T/C] NM_001005279 OR6K2 EXON Missense_G307S exm1721166 1 158669644 [A/G] NM_001005279 OR6K2 EXON Missense_Y267H exm113427 1 158669694 [A/G] NM_001005279 OR6K2 EXON Missense_S250L exm113428 1 158669701 [A/C] NM_001005279 OR6K2 EXON Missense_V248F exm113431 1 158669737 [A/G] NM_001005279 OR6K2 EXON Missense_R236C exm113432 1 158669740 [A/G] NM_001005279 OR6K2 EXON Missense_R235C exm2273707 1 158669746 [T/C] NM_001005279 OR6K2 EXON Missense_G233R exm113440 1 158669772 [C/G] NM_001005279 OR6K2 EXON Missense_A224G exm113442 1 158669782 [T/C] NM_001005279 OR6K2 EXON Missense_G221S exm113446 1 158669799 [T/A] NM_001005279 OR6K2 EXON Missense_I215N exm113449 1 158669851 [T/G] NM_001005279 OR6K2 EXON Missense_Q198K exm113456 1 158669968 [A/T] NM_001005279 OR6K2 EXON Missense_I159F exm2275504 1 158669974 [A/G] NM_001005279 OR6K2 EXON Missense_P157S exm113457 1 158669977 [C/G] NM_001005279 OR6K2 EXON Missense_L156V exm113458 1 158669980 [A/G] NM_001005279 OR6K2 EXON Missense_P155S exm113460 1 158670025 [A/G] NM_001005279 OR6K2 EXON Missense_C140R exm113462 1 158670064 [T/C] NM_001005279 OR6K2 EXON Missense_S127G exm113467 1 158670195 [A/G] NM_001005279 OR6K2 EXON Missense_S83F exm113471 1 158670285 [G/C] NM_001005279 OR6K2 EXON Missense_T53S exm113475 1 158670339 [T/C] NM_001005279 OR6K2 EXON Missense_Y35C exm2275505 1 158670382 [A/G] NM_001005279 OR6K2 EXON Missense_W21R exm1721176 1 158670397 [T/C] NM_001005279 OR6K2 EXON Missense_A16T exm113477 1 158670426 [T/C] NM_001005279 OR6K2 EXON Missense_R6Q exm113478 1 158670429 [T/C] NM_001005279 OR6K2 EXON Missense_N5S exm113480 1 158686980 [A/G] NM_001005327 OR6K3 EXON Missense_V309A exm113481 1 158686996 [A/G] NM_001005327 OR6K3 EXON Missense_F304L exm113488 1 158687112 [T/A] NM_001005327 OR6K3 EXON Missense_Y265F exm113490 1 158687119 [T/C] NM_001005327 OR6K3 EXON Missense_D263N exm113495 1 158687136 [A/C] NM_001005327 OR6K3 EXON Missense_M257R exm113498 1 158687163 [A/G] NM_001005327 OR6K3 EXON Missense_P248L exm113499 1 158687171 [T/C] NM_001005327 OR6K3 EXON Missense_M245I exm113501 1 158687224 [A/G] NM_001005327 OR6K3 EXON Missense_P228S exm113504 1 158687308 [T/C] NM_001005327 OR6K3 EXON Missense_V200M exm113507 1 158687451 [T/C] NM_001005327 OR6K3 EXON Missense_G152D exm113522 1 158687619 [G/C] NM_001005327 OR6K3 EXON Missense_G96A exm113527 1 158687796 [A/C] NM_001005327 OR6K3 EXON Missense_F37C exm2231557 1 158687821 [A/G] NM_001005327 OR6K3 EXON Missense_F29L exm113532 1 158687836 [T/C] NM_001005327 OR6K3 EXON Missense_S24G exm113534 1 158687896 [T/C] NM_001005327 OR6K3 EXON Missense_G4R exm113544 1 158724634 [A/G] NM_001005184 OR6K6 EXON Missense_H10R exm113545 1 158724650 [T/A] NM_001005184 OR6K6 EXON Missense_S15R exm113553 1 158724750 [T/C] NM_001005184 OR6K6 EXON Missense_H49Y exm1721213 1 158724790 [T/C] NM_001005184 OR6K6 EXON Missense_I62T exm113555 1 158724811 [A/G] NM_001005184 OR6K6 EXON Missense_G69E exm113556 1 158724844 [A/G] NM_001005184 OR6K6 EXON Missense_G80D exm113557 1 158724852 [G/C] NM_001005184 OR6K6 EXON Missense_L83V exm113564 1 158724988 [A/G] NM_001005184 OR6K6 EXON Missense_Q128R exm113565 1 158725006 [T/C] NM_001005184 OR6K6 EXON Missense_S134L exm113568 1 158725059 [A/G] NM_001005184 OR6K6 EXON Missense_I152V exm113570 1 158725080 [T/C] NM_001005184 OR6K6 EXON Missense_R159C exm113579 1 158725194 [T/C] NM_001005184 OR6K6 EXON Missense_C197R exm113580 1 158725237 [T/C] NM_001005184 OR6K6 EXON Missense_P211L exm113590 1 158725345 [A/G] NM_001005184 OR6K6 EXON Missense_R247Q exm113591 1 158725348 [T/A] NM_001005184 OR6K6 EXON Missense_I248N exm113593 1 158725387 [A/G] NM_001005184 OR6K6 EXON Missense_H261R exm113598 1 158725419 [T/C] NM_001005184 OR6K6 EXON Missense_L272F exm1721217 1 158725504 [T/C] NM_001005184 OR6K6 EXON Missense_A300V exm113606 1 158725564 [A/G] NM_001005184 OR6K6 EXON Missense_K320R exm113613 1 158735595 [T/C] NM_001005185 OR6N1 EXON Missense_R293H exm113616 1 158735662 [T/C] NM_001005185 OR6N1 EXON Missense_D271N exm113618 1 158735691 [T/C] NM_001005185 OR6N1 EXON Missense_Q261R exm113622 1 158735740 [A/G] NM_001005185 OR6N1 EXON Missense_F245L exm113629 1 158735892 [A/G] NM_001005185 OR6N1 EXON Missense_I194T exm113631 1 158735905 [T/G] NM_001005185 OR6N1 EXON Missense_T190P exm113634 1 158735956 [A/G] NM_001005185 OR6N1 EXON Missense_R173C exm113635 1 158735967 [T/C] NM_001005185 OR6N1 EXON Missense_C169Y exm113639 1 158736064 [T/C] NM_001005185 OR6N1 EXON Missense_T137A exm113647 1 158736135 [T/C] NM_001005185 OR6N1 EXON Missense_Y113C exm113650 1 158736201 [A/G] NM_001005185 OR6N1 EXON Missense_T91I exm113658 1 158736342 [A/G] NM_001005185 OR6N1 EXON Missense_L44P exm113661 1 158736388 [A/G] NM_001005185 OR6N1 EXON Missense_L29F exm113663 1 158736445 [T/C] NM_001005185 OR6N1 EXON Missense_A10T exm113674 1 158746606 [C/G] NM_001005278 OR6N2 EXON Missense_L274V exm113675 1 158746612 [A/G] NM_001005278 OR6N2 EXON Nonsense_R272X exm113678 1 158746678 [T/C] NM_001005278 OR6N2 EXON Missense_I250V exm113685 1 158746797 [T/G] NM_001005278 OR6N2 EXON Missense_T210N exm113686 1 158746815 [A/G] NM_001005278 OR6N2 EXON Missense_A204V exm1721242 1 158746830 [A/T] NM_001005278 OR6N2 EXON Missense_D199V exm113697 1 158747043 [G/C] NM_001005278 OR6N2 EXON Missense_R128P exm113701 1 158747100 [A/G] NM_001005278 OR6N2 EXON Missense_A109V exm113704 1 158747137 [A/G] NM_001005278 OR6N2 EXON Missense_C97R exm1721244 1 158747151 [A/C] NM_001005278 OR6N2 EXON Missense_I92S exm113710 1 158747296 [A/G] NM_001005278 OR6N2 EXON Missense_L44F exm113728 1 158812064 [C/G] NM_002432 MNDA EXON Missense_E41Q exm113730 1 158812091 [G/C] NM_002432 MNDA EXON Missense_D50H exm113737 1 158813078 [T/A] NM_002432 MNDA EXON Missense_K92I exm113738 1 158813081 [T/C] NM_002432 MNDA EXON Missense_I93T exm113739 1 158813138 [T/C] NM_002432 MNDA EXON Missense_A112V exm113744 1 158813810 [T/A] NM_002432 MNDA EXON Missense_S156R exm113748 1 158813875 [T/C] NM_002432 MNDA EXON Missense_T178I exm113752 1 158813911 [T/C] NM_002432 MNDA EXON Missense_P190L exm113753 1 158813912 [A/G] NM_002432 MNDA EXON Synonymous_P190P exm113756 1 158815405 [T/G] NM_002432 MNDA EXON Missense_V200G exm113758 1 158815410 [A/G] NM_002432 MNDA EXON Missense_A202T exm113763 1 158815546 [T/C] NM_002432 MNDA EXON Missense_F247S exm113764 1 158815580 [T/G] NM_002432 MNDA EXON Missense_E258D exm113789 1 158817597 [A/G] NM_002432 MNDA EXON Nonsense_W356X exm113790 1 158817599 [T/C] NM_002432 MNDA EXON Missense_H357Y exm1721286 1 158817618 [A/T] NM_002432 MNDA EXON Missense_K363I exm113794 1 158817666 [A/G] NM_002432 MNDA EXON Missense_R379H exm113801 1 158819011 [T/C] NM_002432 MNDA EXON Missense_P403L exm113805 1 158906777 [A/G] NM_198930,NM_198929,NM_152501,NM_198928 PYHIN1,PYHIN1,PYHIN1,PYHIN1 EXON Missense_K26R,Missense_K26R,Missense_K26R,Missense_K26R exm113806 1 158906824 [A/G] NM_198930,NM_198929,NM_152501,NM_198928 PYHIN1,PYHIN1,PYHIN1,PYHIN1 EXON Missense_E42K,Missense_E42K,Missense_E42K,Missense_E42K exm113811 1 158908213 [A/G] NM_198930,NM_198929,NM_152501,NM_198928 PYHIN1,PYHIN1,PYHIN1,PYHIN1 EXON Silent,Missense_V98I,Missense_V98I,Silent exm113817 1 158908881 [A/C] NM_198930,NM_198929,NM_152501,NM_198928 PYHIN1,PYHIN1,PYHIN1,PYHIN1 EXON Missense_K132N,Missense_K141N,Missense_K141N,Missense_K132N exm113818 1 158908886 [T/C] NM_198930,NM_198929,NM_152501,NM_198928 PYHIN1,PYHIN1,PYHIN1,PYHIN1 EXON Missense_S134F,Missense_S143F,Missense_S143F,Missense_S134F exm113831 1 158911789 [A/G] NM_198930,NM_198929,NM_152501,NM_198928 PYHIN1,PYHIN1,PYHIN1,PYHIN1 EXON Missense_R192H,Missense_R201H,Missense_R201H,Missense_R192H exm113832 1 158911792 [A/G] NM_198930,NM_198929,NM_152501,NM_198928 PYHIN1,PYHIN1,PYHIN1,PYHIN1 EXON Missense_H193R,Missense_H202R,Missense_H202R,Missense_H193R exm113834 1 158911818 [T/C] NM_198930,NM_198929,NM_152501,NM_198928 PYHIN1,PYHIN1,PYHIN1,PYHIN1 EXON Nonsense_R202X,Nonsense_R211X,Nonsense_R211X,Nonsense_R202X exm113835 1 158911819 [A/G] NM_198930,NM_198929,NM_152501,NM_198928 PYHIN1,PYHIN1,PYHIN1,PYHIN1 EXON Missense_R202Q,Missense_R211Q,Missense_R211Q,Missense_R202Q exm113837 1 158911921 [A/C] NM_198930,NM_198929,NM_152501,NM_198928 PYHIN1,PYHIN1,PYHIN1,PYHIN1 EXON Missense_T236K,Missense_T245K,Missense_T245K,Missense_T236K exm113839 1 158911988 [T/A] NM_198930,NM_198929,NM_152501,NM_198928 PYHIN1,PYHIN1,PYHIN1,PYHIN1 EXON Missense_R258S,Missense_R267S,Missense_R267S,Missense_R258S exm113850 1 158913694 [T/C] NM_198930,NM_198929,NM_152501,NM_198928 PYHIN1,PYHIN1,PYHIN1,PYHIN1 EXON Nonsense_R364X,Nonsense_R373X,Nonsense_R373X,Nonsense_R364X exm113853 1 158913731 [T/C] NM_198930,NM_198929,NM_152501,NM_198928 PYHIN1,PYHIN1,PYHIN1,PYHIN1 EXON Missense_M376T,Missense_M385T,Missense_M385T,Missense_M376T exm113857 1 158943464 [T/C] NM_198930,NM_198929,NM_152501,NM_198928 PYHIN1,PYHIN1,PYHIN1,PYHIN1 EXON Silent,Silent,Missense_S463P,Missense_S454P exm2231566 1 158943468 [T/C] NM_198930,NM_198929,NM_152501,NM_198928 PYHIN1,PYHIN1,PYHIN1,PYHIN1 EXON Silent,Silent,Missense_S464L,Missense_S455L exm113859 1 158943483 [A/G] NM_198930,NM_198929,NM_152501,NM_198928 PYHIN1,PYHIN1,PYHIN1,PYHIN1 EXON Silent,Silent,Missense_R469K,Missense_R460K exm113864 1 158943539 [T/C] NM_198930,NM_198929,NM_152501,NM_198928 PYHIN1,PYHIN1,PYHIN1,PYHIN1 EXON Silent,Silent,Missense_H488Y,Missense_H479Y exm2231567 1 158979950 [A/G] NM_001206567,NM_005531 IFI16,IFI16 EXON Silent,Silent exm113884 1 158985673 [A/G] NM_001206567,NM_005531 IFI16,IFI16 EXON Missense_A93T,Missense_A93T exm113886 1 158985706 [A/G] NM_001206567,NM_005531 IFI16,IFI16 EXON Missense_A104T,Missense_A104T exm1721428 1 158986350 [C/G] NM_001206567,NM_005531 IFI16,IFI16 EXON Silent,Missense_A137P exm113897 1 158986477 [G/C] NM_001206567,NM_005531 IFI16,IFI16 EXON Silent,Missense_S179T exm113908 1 158988319 [T/C] NM_001206567,NM_005531 IFI16,IFI16 EXON Missense_P228S,Missense_P284S exm113909 1 158988329 [T/C] NM_001206567,NM_005531 IFI16,IFI16 EXON Missense_T231M,Missense_T287M exm113912 1 158988413 [T/C] NM_001206567,NM_005531 IFI16,IFI16 EXON Missense_I259T,Missense_I315T exm113916 1 158990148 [T/G] NM_001206567,NM_005531 IFI16,IFI16 EXON Missense_K274N,Missense_K330N exm113927 1 159002377 [A/C] NM_001206567,NM_005531 IFI16,IFI16 EXON Missense_R353S,Missense_R409S exm113928 1 159002389 [T/A] NM_001206567,NM_005531 IFI16,IFI16 EXON Missense_Y357N,Missense_Y413N exm113929 1 159002410 [A/G] NM_001206567,NM_005531 IFI16,IFI16 EXON Missense_T364A,Missense_T420A exm-rs1772408 1 159005649 [A/G] NM_001206567,NM_005531 IFI16,IFI16 Silent,Silent exm113937 1 159015250 [T/C] NM_001206567,NM_005531 IFI16,IFI16 EXON Missense_T442I,Silent exm113943 1 159021506 [T/C] NM_001206567,NM_005531 IFI16,IFI16 EXON Missense_S512F,Missense_S512F exm113949 1 159021617 [T/C] NM_001206567,NM_005531 IFI16,IFI16 EXON Missense_A549V,Missense_A549V exm113952 1 159021719 [A/G] NM_001206567,NM_005531 IFI16,IFI16 EXON Missense_N583S,Missense_N583S exm113955 1 159021815 [T/G] NM_001206567,NM_005531 IFI16,IFI16 EXON Missense_V615G,Missense_V615G exm113964 1 159023422 [A/G] NM_001206567,NM_005531 IFI16,IFI16 EXON Missense_E673K,Missense_E673K exm113967 1 159023482 [A/G] NM_001206567,NM_005531 IFI16,IFI16 EXON Missense_E693K,Missense_E693K exm2231571 1 159023509 [A/C] NM_001206567,NM_005531 IFI16,IFI16 EXON Missense_I702L,Missense_I702L exm113971 1 159024654 [A/G] NM_001206567,NM_005531 IFI16,IFI16 EXON Missense_D718G,Missense_D718G exm113973 1 159024668 [A/T] NM_001206567,NM_005531 IFI16,IFI16 EXON Missense_T723S,Missense_T723S exm113976 1 159032484 [A/C] NM_004833 AIM2 EXON Missense_X344E exm113984 1 159033443 [T/C] NM_004833 AIM2 EXON Missense_I280V exm113997 1 159035958 [T/G] NM_004833 AIM2 EXON Missense_E186D exm2273708 1 159038375 [A/C] NM_004833 AIM2 EXON Missense_V127F exm114004 1 159038378 [T/C] NM_004833 AIM2 EXON Missense_K126E exm114016 1 159043196 [T/C] NM_004833 AIM2 EXON Missense_E32K exm1721480 1 159043229 [T/C] NM_004833 AIM2 EXON Missense_E21K exm-rs1474747 1 159148513 [T/C] NM_021189,NM_001127173 CADM3,CADM3 Silent,Silent exm114027 1 159159620 [A/C] NM_021189,NM_001127173 CADM3,CADM3 EXON Missense_S50R,Silent exm2264908 1 159160880 [A/G] NM_021189,NM_001127173 CADM3,CADM3 Silent,Silent exm114044 1 159163314 [T/C] NM_021189,NM_001127173 CADM3,CADM3 EXON Missense_R196W,Missense_R162W exm114046 1 159163349 [T/C] NM_021189,NM_001127173 CADM3,CADM3 EXON Synonymous_H207H,Synonymous_H173H exm114053 1 159166182 [A/C] NM_021189,NM_001127173,NR_037870 CADM3,CADM3,LOC100131825 EXON Missense_D274E,Missense_D240E,Silent exm114056 1 159166681 [A/C] NM_021189,NM_001127173,NR_037870 CADM3,CADM3,LOC100131825 EXON Synonymous_V295V,Synonymous_V261V,Silent exm2259823 1 159174683 [T/C] NM_002036 DARC EXON Silent exm114085 1 159175354 [A/G] NM_002036,NM_001122951 DARC,DARC EXON Missense_G42D,Missense_G44D exm114087 1 159175375 [T/C] NM_002036,NM_001122951 DARC,DARC EXON Missense_A49V,Missense_A51V exm114089 1 159175428 [T/C] NM_002036,NM_001122951 DARC,DARC EXON Missense_L67F,Missense_L69F exm114098 1 159175494 [T/C] NM_002036,NM_001122951 DARC,DARC EXON Missense_R89C,Missense_R91C exm114101 1 159175527 [A/G] NM_002036,NM_001122951 DARC,DARC EXON Missense_A100T,Missense_A102T exm114109 1 159175684 [T/C] NM_002036,NM_001122951 DARC,DARC EXON Missense_S152F,Missense_S154F exm114114 1 159175884 [A/G] NM_002036,NM_001122951 DARC,DARC EXON Missense_V219I,Missense_V221I exm114120 1 159176166 [T/C] NM_002036,NM_001122951 DARC,DARC EXON Missense_R313C,Missense_R315C exm114129 1 159176206 [T/C] NM_002036,NM_001122951 DARC,DARC EXON Missense_S326F,Missense_S328F exm-rs10489849 1 159196765 [T/C] exm-rs2251746 1 159272060 [T/C] NM_002001 FCER1A Silent exm114133 1 159272209 [A/G] NM_002001 FCER1A EXON Missense_A19T exm114143 1 159273892 [A/G] NM_002001 FCER1A EXON Missense_K84R exm114144 1 159273943 [A/G] NM_002001 FCER1A EXON Missense_S101N exm114148 1 159275786 [G/C] NM_002001 FCER1A EXON Missense_L114V exm114153 1 159275976 [T/C] NM_002001 FCER1A EXON Missense_T177M exm114158 1 159277559 [T/C] NM_002001 FCER1A EXON Missense_L204P exm114164 1 159277672 [T/G] NM_002001 FCER1A EXON Missense_G242C exm114165 1 159277673 [C/G] NM_002001 FCER1A EXON Missense_G242A exm114166 1 159277682 [T/A] NM_002001 FCER1A EXON Missense_L245H exm114168 1 159277689 [A/C] NM_002001 FCER1A EXON Missense_N247K exm114171 1 159277709 [T/C] NM_002001 FCER1A EXON Missense_P254L exm-rs2494250 1 159278251 [C/G] exm114172 1 159283467 [A/G] NM_001004467 OR10J3 EXON Missense_M328T exm114173 1 159283494 [T/C] NM_001004467 OR10J3 EXON Missense_E319G exm114177 1 159283584 [G/C] NM_001004467 OR10J3 EXON Missense_C289S exm114180 1 159283642 [T/C] NM_001004467 OR10J3 EXON Missense_G270R exm114184 1 159283737 [A/G] NM_001004467 OR10J3 EXON Missense_A238V exm114185 1 159283746 [T/C] NM_001004467 OR10J3 EXON Missense_Q235R exm1721649 1 159283784 [G/C] NM_001004467 OR10J3 EXON Missense_I222M exm114188 1 159283925 [G/C] NM_001004467 OR10J3 EXON Missense_I175M exm114196 1 159284083 [A/G] NM_001004467 OR10J3 EXON Missense_R123C exm114202 1 159284245 [T/C] NM_001004467 OR10J3 EXON Missense_I69V exm114204 1 159284295 [A/G] NM_001004467 OR10J3 EXON Missense_L52P exm114208 1 159284379 [T/C] NM_001004467 OR10J3 EXON Missense_H24R exm114211 1 159284385 [T/C] NM_001004467 OR10J3 EXON Missense_R22Q exm114212 1 159284386 [A/G] NM_001004467 OR10J3 EXON Missense_R22W exm-rs6687840 1 159342439 [T/C] exm-rs4446959 1 159357684 [T/C] exm114219 1 159409612 [A/G] NM_012351 OR10J1 EXON Missense_D22N exm114229 1 159409757 [T/C] NM_012351 OR10J1 EXON Missense_M70T exm2273709 1 159409798 [T/A] NM_012351 OR10J1 EXON Missense_Y84N exm114235 1 159409857 [A/G] NM_012351 OR10J1 EXON Missense_I103M exm114238 1 159409884 [A/G] NM_012351 OR10J1 EXON Missense_M112I exm114244 1 159409910 [T/C] NM_012351 OR10J1 EXON Missense_T121I exm114252 1 159409979 [T/G] NM_012351 OR10J1 EXON Missense_M144R exm1721705 1 159410002 [A/C] NM_012351 OR10J1 EXON Missense_R152S exm114259 1 159410122 [T/C] NM_012351 OR10J1 EXON Missense_R192C exm114262 1 159410162 [A/G] NM_012351 OR10J1 EXON Missense_N205S exm114276 1 159410354 [A/T] NM_012351 OR10J1 EXON Missense_Y269F exm114278 1 159410402 [T/C] NM_012351 OR10J1 EXON Missense_S285L exm-rs4133289 1 159453937 [T/C] exm1721758 1 159504942 [G/C] NM_001004469 OR10J5 EXON Missense_P286A exm114292 1 159504971 [A/G] NM_001004469 OR10J5 EXON Missense_T276M exm114297 1 159505101 [A/G] NM_001004469 OR10J5 EXON Missense_R233W exm114298 1 159505202 [T/A] NM_001004469 OR10J5 EXON Missense_Y199F exm114299 1 159505212 [T/C] NM_001004469 OR10J5 EXON Missense_I196V exm114300 1 159505235 [T/C] NM_001004469 OR10J5 EXON Missense_C188Y exm114308 1 159505373 [A/G] NM_001004469 OR10J5 EXON Missense_A142V exm114309 1 159505397 [A/G] NM_001004469 OR10J5 EXON Missense_V134A exm114310 1 159505433 [T/C] NM_001004469 OR10J5 EXON Missense_R122H exm114316 1 159505586 [A/G] NM_001004469 OR10J5 EXON Missense_T71M exm114322 1 159505762 [T/G] NM_001004469 OR10J5 EXON Missense_F12L exm114324 1 159557721 [T/C] NM_001639 APCS EXON Missense_P4S exm114335 1 159558024 [C/G] NM_001639 APCS EXON Nonsense_Y66X exm114342 1 159558227 [T/C] NM_001639 APCS EXON Missense_V134A exm2268942 1 159598533 [T/C] exm-rs12093699 1 159647988 [A/G] exm-rs876537 1 159674933 [T/C] exm-rs2794520 1 159678816 [T/C] exm-rs2808630 1 159680868 [T/C] exm114370 1 159683683 [T/C] NM_000567 CRP EXON Missense_E103K exm114381 1 159683814 [A/G] NM_000567 CRP EXON Missense_T59M exm114382 1 159683816 [G/C] NM_000567 CRP EXON Nonsense_Y58X exm114385 1 159683856 [A/G] NM_000567 CRP EXON Missense_T45M exm114393 1 159684245 [T/G] NM_000567 CRP EXON Missense_T11P exm-rs3093059 1 159685136 [A/G] exm-rs7553007 1 159698549 [A/G] exm-rs11265260 1 159700039 [A/G] exm-rs11265263 1 159710517 [A/C] exm114409 1 159751104 [A/G] NM_017823 DUSP23 EXON Missense_D72N exm114414 1 159751959 [C/G] NM_017823 DUSP23 EXON Missense_C95S exm114417 1 159752015 [T/C] NM_017823 DUSP23 EXON Missense_R114W exm114419 1 159752046 [T/A] NM_017823 DUSP23 EXON Missense_E124V exm114422 1 159752066 [A/G] NM_017823 DUSP23 EXON Missense_G131S exm-rs4233356 1 159753183 [A/G] exm114438 1 159778115 [T/C] NM_001004310 FCRL6 EXON Missense_T67I exm114454 1 159778798 [T/C] NM_001004310 FCRL6 EXON Nonsense_R123X exm114455 1 159778799 [A/G] NM_001004310 FCRL6 EXON Missense_R123Q exm114458 1 159778822 [A/G] NM_001004310 FCRL6 EXON Missense_R131G exm114485 1 159779390 [A/G] NM_001004310 FCRL6 EXON Missense_E268G exm114488 1 159779426 [A/G] NM_001004310 FCRL6 EXON Missense_N280S exm114492 1 159779465 [T/C] NM_001004310 FCRL6 EXON Missense_S293F exm114495 1 159779938 [T/C] NM_001004310 FCRL6 EXON Missense_A314V exm114499 1 159779985 [T/G] NM_001004310 FCRL6 EXON Missense_V330L exm114503 1 159783317 [A/G] NM_001004310 FCRL6 EXON Missense_G350R exm114504 1 159783343 [T/C] NM_001004310 FCRL6 EXON Synonymous_N358N exm114505 1 159783344 [A/G] NM_001004310 FCRL6 EXON Missense_V359M exm114506 1 159784047 [A/G] NM_001004310 FCRL6 EXON Missense_Y371C exm114508 1 159784067 [T/G] NM_001004310 FCRL6 EXON Missense_S378A exm114518 1 159785345 [T/C] NM_001004310 FCRL6 EXON Missense_A400V exm114522 1 159785413 [T/C] NM_001004310 FCRL6 EXON Nonsense_Q423X exm114525 1 159785425 [A/G] NM_001004310 FCRL6 EXON Missense_S427G exm114527 1 159785428 [A/G] NM_001004310 FCRL6 EXON Missense_D428N exm114530 1 159785447 [A/G] NM_001004310 FCRL6 EXON Missense_C434Y exm114535 1 159796689 [T/A] NM_020125 SLAMF8 EXON Missense_M1L exm114538 1 159796701 [A/C] NM_020125 SLAMF8 EXON Missense_P5T exm114545 1 159799703 [A/G] NM_020125 SLAMF8 EXON Missense_G30R exm114548 1 159799728 [T/C] NM_020125 SLAMF8 EXON Missense_A38V exm114551 1 159799731 [A/G] NM_020125 SLAMF8 EXON Missense_R39H exm114556 1 159799772 [T/C] NM_020125 SLAMF8 EXON Missense_L53F exm114557 1 159799787 [T/G] NM_020125 SLAMF8 EXON Nonsense_E58X exm114558 1 159799808 [T/C] NM_020125 SLAMF8 EXON Nonsense_R65X exm114559 1 159799809 [A/G] NM_020125 SLAMF8 EXON Missense_R65Q exm114562 1 159799886 [A/G] NM_020125 SLAMF8 EXON Missense_G91R exm114567 1 159799910 [A/G] NM_020125 SLAMF8 EXON Missense_G99S exm114568 1 159799917 [T/C] NM_020125 SLAMF8 EXON Missense_F101S exm114569 1 159799922 [A/G] NM_020125 SLAMF8 EXON Missense_V103M exm2231581 1 159799970 [A/C] NM_020125 SLAMF8 EXON Missense_L119I exm114572 1 159799981 [T/C] NM_020125 SLAMF8 EXON Synonymous_Y122Y exm114573 1 159799982 [A/G] NM_020125 SLAMF8 EXON Missense_D123N exm114575 1 159802683 [A/G] NM_020125 SLAMF8 EXON Missense_V129M exm114582 1 159802845 [A/G] NM_020125 SLAMF8 EXON Missense_G183R exm1721931 1 159802942 [T/C] NM_020125 SLAMF8 EXON Missense_T215M exm114587 1 159802965 [A/G] NM_020125 SLAMF8 EXON Missense_E223K exm114592 1 159803114 [A/G] NM_020125 SLAMF8 EXON Missense_M246V exm114602 1 159810633 [T/C] NM_001134233 C1orf204 EXON Missense_A156T exm114614 1 159824787 [A/G] NM_001134233,NM_001013661 C1orf204,VSIG8 EXON Missense_A31V,Missense_A334V exm114618 1 159824967 [C/G] NM_001134233,NM_001013661 C1orf204,VSIG8 EXON Missense_Q21E,Silent exm114622 1 159825833 [T/C] NM_001013661 VSIG8 EXON Missense_G271S exm114623 1 159825853 [A/T] NM_001013661 VSIG8 EXON Missense_V264E exm114629 1 159826364 [A/G] NM_001013661 VSIG8 EXON Missense_V241A exm114634 1 159827606 [A/G] NM_001013661 VSIG8 EXON Missense_S194F exm114639 1 159827747 [A/G] NM_001013661 VSIG8 EXON Missense_A147V exm114641 1 159827903 [T/C] NM_001013661 VSIG8 EXON Missense_R136Q exm114650 1 159828534 [C/G] NM_001013661 VSIG8 EXON Missense_R73P exm1721997 1 159842304 [T/C] NM_012337 CCDC19 EXON Missense_N543D exm114676 1 159842773 [A/C] NM_012337 CCDC19 EXON Missense_R513L exm114678 1 159842779 [T/C] NM_012337 CCDC19 EXON Missense_R511H exm1722003 1 159842834 [A/G] NM_012337 CCDC19 EXON Missense_R493W exm114689 1 159842923 [T/C] NM_012337 CCDC19 EXON Missense_E463G exm114695 1 159846376 [T/C] NM_012337 CCDC19 EXON Missense_R441Q exm1722015 1 159847162 [T/C] NM_012337 CCDC19 EXON Missense_A379T exm1722020 1 159850436 [T/C] NM_012337 CCDC19 EXON Missense_I318V exm114719 1 159850438 [T/C] NM_012337 CCDC19 EXON Missense_R317H exm114722 1 159850481 [A/G] NM_012337 CCDC19 EXON Nonsense_R303X exm114724 1 159854251 [T/C] NM_012337 CCDC19 EXON Missense_E291G exm114735 1 159856388 [T/C] NM_012337 CCDC19 EXON Missense_R227Q exm114737 1 159856403 [T/C] NM_012337 CCDC19 EXON Missense_D222G exm114742 1 159856449 [A/G] NM_012337 CCDC19 EXON Missense_R207W exm2231584 1 159857645 [T/C] NM_012337 CCDC19 EXON Missense_K192E exm114745 1 159857654 [C/G] NM_012337 CCDC19 EXON Missense_E189Q exm114749 1 159857786 [A/G] NM_012337 CCDC19 EXON Nonsense_R145X exm1722036 1 159858193 [T/G] NM_012337 CCDC19 EXON Missense_E122D exm114755 1 159858278 [T/G] NM_012337 CCDC19 EXON Missense_T94K exm114760 1 159860322 [A/G] NM_012337 CCDC19 EXON Missense_R74C exm114763 1 159860369 [T/C] NM_012337 CCDC19 EXON Missense_R58Q exm114766 1 159863011 [T/C] NM_012337 CCDC19 EXON Missense_V30M exm114768 1 159863028 [T/C] NM_012337 CCDC19 EXON Missense_R24H exm1722085 1 159888640 [T/C] NM_003564 TAGLN2 EXON Missense_A184T exm1722086 1 159888645 [T/C] NM_003564 TAGLN2 EXON Missense_R182H exm1722092 1 159890121 [A/G] NM_003564 TAGLN2 EXON Missense_T60M exm114806 1 159890155 [A/G] NM_003564 TAGLN2 EXON Missense_R49C exm114812 1 159890281 [T/C] NM_003564 TAGLN2 EXON Missense_A7T exm2250049 1 159896294 [A/G] exm114831 1 159897251 [A/G] NM_020789,NM_001135050 IGSF9,IGSF9 EXON Missense_C1126R,Missense_C1142R exm114837 1 159897559 [T/G] NM_020789,NM_001135050 IGSF9,IGSF9 EXON Missense_P1101T,Missense_P1117T exm114850 1 159898158 [T/C] NM_020789,NM_001135050 IGSF9,IGSF9 EXON Missense_R991Q,Missense_R1007Q exm114860 1 159898420 [A/G] NM_020789,NM_001135050 IGSF9,IGSF9 EXON Missense_P904S,Missense_P920S exm114861 1 159898422 [T/C] NM_020789,NM_001135050 IGSF9,IGSF9 EXON Missense_G903D,Missense_G919D exm114866 1 159898500 [T/C] NM_020789,NM_001135050 IGSF9,IGSF9 EXON Missense_G877E,Missense_G893E exm114878 1 159899170 [G/C] NM_020789,NM_001135050 IGSF9,IGSF9 EXON Missense_I764M,Missense_I780M exm114883 1 159899462 [A/C] NM_020789,NM_001135050 IGSF9,IGSF9 EXON Missense_R748S,Missense_R764S exm114884 1 159899469 [G/C] NM_020789,NM_001135050 IGSF9,IGSF9 EXON Missense_R746P,Missense_R762P exm114886 1 159899485 [T/C] NM_020789,NM_001135050 IGSF9,IGSF9 EXON Missense_G741S,Missense_G757S exm114893 1 159899764 [A/T] NM_020789,NM_001135050 IGSF9,IGSF9 EXON Missense_D673V,Missense_D689V exm114902 1 159900552 [C/G] NM_020789,NM_001135050 IGSF9,IGSF9 EXON Missense_Q565H,Missense_Q581H exm114907 1 159900593 [A/G] NM_020789,NM_001135050 IGSF9,IGSF9 EXON Missense_H552Y,Missense_H568Y exm114911 1 159900655 [A/G] NM_020789,NM_001135050 IGSF9,IGSF9 EXON Missense_A531V,Missense_A547V exm114940 1 159902414 [G/C] NM_020789,NM_001135050 IGSF9,IGSF9 EXON Missense_G362A,Missense_G378A exm114942 1 159902427 [A/G] NM_020789,NM_001135050 IGSF9,IGSF9 EXON Nonsense_Q358X,Nonsense_Q374X exm114944 1 159902438 [A/G] NM_020789,NM_001135050 IGSF9,IGSF9 EXON Missense_P354L,Missense_P370L exm2231588 1 159903996 [T/G] NM_020789,NM_001135050 IGSF9,IGSF9 EXON Missense_A347D,Missense_A363D exm114949 1 159904050 [A/G] NM_020789,NM_001135050 IGSF9,IGSF9 EXON Missense_P329L,Missense_P345L exm114954 1 159904340 [T/C] NM_020789,NM_001135050 IGSF9,IGSF9 EXON Missense_R279Q,Missense_R279Q exm114956 1 159904358 [T/C] NM_020789,NM_001135050 IGSF9,IGSF9 EXON Missense_R273H,Missense_R273H exm114961 1 159904555 [A/G] NM_020789,NM_001135050 IGSF9,IGSF9 EXON Missense_V244A,Missense_V244A exm114985 1 159907617 [T/G] NM_020789,NM_001135050 IGSF9,IGSF9 EXON Missense_L87M,Missense_L87M exm114986 1 159907619 [T/C] NM_020789,NM_001135050 IGSF9,IGSF9 EXON Missense_R86Q,Missense_R86Q exm114995 1 159912858 [T/C] NM_020789,NM_001135050 IGSF9,IGSF9 EXON Missense_G48S,Missense_G48S exm114998 1 159912899 [T/C] NM_020789,NM_001135050 IGSF9,IGSF9 EXON Missense_G34E,Missense_G34E exm115015 1 159921606 [T/C] NM_001146172,NM_033438,NM_001146173 SLAMF9,SLAMF9,SLAMF9 EXON Missense_K148E,Missense_K239E,Synonymous_P102P exm115026 1 159922175 [T/C] NM_001146172,NM_033438,NM_001146173 SLAMF9,SLAMF9,SLAMF9 EXON Silent,Missense_E181K,Silent exm115030 1 159922226 [C/G] NM_001146172,NM_033438,NM_001146173 SLAMF9,SLAMF9,SLAMF9 EXON Silent,Missense_D164H,Silent exm115035 1 159923111 [T/G] NM_001146172,NM_033438,NM_001146173 SLAMF9,SLAMF9,SLAMF9 EXON Missense_I127L,Missense_I127L,Silent exm115036 1 159923141 [A/G] NM_001146172,NM_033438,NM_001146173 SLAMF9,SLAMF9,SLAMF9 EXON Missense_S117P,Missense_S117P,Silent exm115040 1 159923234 [T/C] NM_001146172,NM_033438,NM_001146173 SLAMF9,SLAMF9,SLAMF9 EXON Missense_V86M,Missense_V86M,Silent exm115045 1 159923350 [T/C] NM_001146172,NM_033438,NM_001146173 SLAMF9,SLAMF9,SLAMF9 EXON Missense_D47G,Missense_D47G,Missense_D47G exm115047 1 159923395 [A/G] NM_001146172,NM_033438,NM_001146173 SLAMF9,SLAMF9,SLAMF9 EXON Missense_A32V,Missense_A32V,Missense_A32V exm115060 1 160000380 [T/C] NM_145167 PIGM EXON Missense_N384D exm115063 1 160000435 [A/T] NM_145167 PIGM EXON Missense_F365L exm115068 1 160000580 [T/C] NM_145167 PIGM EXON Missense_C317Y exm115071 1 160000667 [A/G] NM_145167 PIGM EXON Missense_F288S exm115081 1 160001012 [T/C] NM_145167 PIGM EXON Missense_Y173C exm115093 1 160001300 [A/G] NM_145167 PIGM EXON Missense_T77I exm115109 1 160011262 [T/C] NM_002241 KCNJ10 EXON Missense_K354R exm115111 1 160011280 [T/C] NM_002241 KCNJ10 EXON Missense_R348H exm115113 1 160011511 [T/C] NM_002241 KCNJ10 EXON Missense_R271H exm115114 1 160011512 [A/G] NM_002241 KCNJ10 EXON Missense_R271C exm115116 1 160011588 [G/C] NM_002241 KCNJ10 EXON Missense_D245E exm115117 1 160011635 [A/G] NM_002241 KCNJ10 EXON Missense_R230W exm115120 1 160011793 [T/C] NM_002241 KCNJ10 EXON Missense_E177G exm115126 1 160012023 [T/G] NM_002241 KCNJ10 EXON Missense_D100E exm115128 1 160012073 [T/C] NM_002241 KCNJ10 EXON Missense_V84M exm115130 1 160012187 [T/C] NM_002241 KCNJ10 EXON Missense_D46N exm115135 1 160012247 [A/G] NM_002241 KCNJ10 EXON Nonsense_R26X exm115136 1 160012270 [T/C] NM_002241 KCNJ10 EXON Missense_R18Q exm115137 1 160012271 [A/G] NM_002241 KCNJ10 EXON Missense_R18W exm115140 1 160012313 [T/C] NM_002241 KCNJ10 EXON Missense_V4I exm115186 1 160062119 [A/G] NM_001206665,NM_052868 IGSF8,IGSF8 EXON Missense_A560V,Missense_A560V exm115187 1 160062126 [A/G] NM_001206665,NM_052868 IGSF8,IGSF8 EXON Missense_Y558H,Missense_Y558H exm115189 1 160062177 [T/C] NM_001206665,NM_052868 IGSF8,IGSF8 EXON Missense_V541M,Missense_V541M exm115197 1 160062398 [T/C] NM_001206665,NM_052868 IGSF8,IGSF8 EXON Missense_R467Q,Missense_R467Q exm115199 1 160062453 [T/C] NM_001206665,NM_052868 IGSF8,IGSF8 EXON Missense_G449R,Missense_G449R exm1722234 1 160062768 [A/G] NM_001206665,NM_052868 IGSF8,IGSF8 EXON Missense_R420C,Missense_R420C exm115215 1 160062927 [T/C] NM_001206665,NM_052868 IGSF8,IGSF8 EXON Missense_V367M,Missense_V367M exm115220 1 160062977 [A/G] NM_001206665,NM_052868 IGSF8,IGSF8 EXON Missense_A350V,Missense_A350V exm115222 1 160063065 [T/G] NM_001206665,NM_052868 IGSF8,IGSF8 EXON Missense_P321T,Missense_P321T exm115223 1 160063083 [A/G] NM_001206665,NM_052868 IGSF8,IGSF8 EXON Missense_R315W,Missense_R315W exm115227 1 160063518 [T/C] NM_001206665,NM_052868 IGSF8,IGSF8 EXON Missense_V296M,Missense_V296M exm115230 1 160063553 [C/G] NM_001206665,NM_052868 IGSF8,IGSF8 EXON Missense_A284G,Missense_A284G exm115234 1 160063586 [T/G] NM_001206665,NM_052868 IGSF8,IGSF8 EXON Missense_A273D,Missense_A273D exm2275508 1 160063587 [A/C] NM_001206665,NM_052868 IGSF8,IGSF8 EXON Missense_A273S,Missense_A273S exm115241 1 160063673 [T/C] NM_001206665,NM_052868 IGSF8,IGSF8 EXON Missense_R244H,Missense_R244H exm115251 1 160063880 [A/G] NM_001206665,NM_052868 IGSF8,IGSF8 EXON Missense_T175M,Missense_T175M exm2273710 1 160063926 [C/G] NM_001206665,NM_052868 IGSF8,IGSF8 EXON Missense_P160A,Missense_P160A exm115260 1 160064697 [T/C] NM_001206665,NM_052868 IGSF8,IGSF8 EXON Missense_R135H,Missense_R135H exm115274 1 160064833 [T/C] NM_001206665,NM_052868 IGSF8,IGSF8 EXON Missense_V90I,Missense_V90I exm115295 1 160090708 [T/A] NM_000702 ATP1A2 EXON Missense_Y9N exm115300 1 160091016 [A/G] NM_000702 ATP1A2 EXON Missense_R51H exm115309 1 160093165 [A/G] NM_000702 ATP1A2 EXON Missense_G114S exm115311 1 160093206 [T/C] NM_000702 ATP1A2 EXON Synonymous_N127N exm115347 1 160098815 [A/G] NM_000702 ATP1A2 EXON Missense_R421Q exm115351 1 160099904 [A/G] NM_000702 ATP1A2 EXON Missense_E492K exm115361 1 160100226 [T/A] NM_000702 ATP1A2 EXON Missense_N556Y exm2250053 1 160100321 [T/C] NM_000702 ATP1A2 EXON Synonymous_S587S exm115385 1 160105381 [G/C] NM_000702 ATP1A2 EXON Missense_G758A exm115402 1 160106787 [A/C] NM_000702 ATP1A2 EXON Missense_T936P exm1722352 1 160121869 [A/T] NM_144699 ATP1A4 EXON Missense_H13Q exm115423 1 160121873 [T/C] NM_144699 ATP1A4 EXON Nonsense_Q15X exm115424 1 160121885 [A/C] NM_144699 ATP1A4 EXON Synonymous_R19R exm2250054 1 160121971 [A/G] NM_144699 ATP1A4 EXON Synonymous_V47V exm115432 1 160123000 [A/G] NM_144699 ATP1A4 EXON Missense_V65M exm115433 1 160124866 [T/C] NM_144699 ATP1A4 EXON Missense_L80P exm115434 1 160124875 [A/G] NM_144699 ATP1A4 EXON Missense_G83D exm115444 1 160125859 [A/G] NM_144699 ATP1A4 EXON Missense_V146I exm115447 1 160125871 [A/G] NM_144699 ATP1A4 EXON Missense_V150I exm115462 1 160129232 [C/G] NM_144699 ATP1A4 EXON Missense_P232A exm115463 1 160129260 [A/G] NM_144699 ATP1A4 EXON Missense_H241R exm115467 1 160133954 [T/C] NM_144699 ATP1A4 EXON Missense_R263W exm115468 1 160133955 [A/G] NM_144699 ATP1A4 EXON Missense_R263Q exm2250055 1 160133956 [G/C] NM_144699 ATP1A4 EXON Synonymous_R263R exm115469 1 160133956 [G/C] NM_144699 ATP1A4 EXON Synonymous_R263R exm115475 1 160134012 [T/C] NM_144699 ATP1A4 EXON Missense_T282M exm115477 1 160134056 [A/G] NM_144699 ATP1A4 EXON Missense_E297K exm115478 1 160134114 [T/C] NM_144699 ATP1A4 EXON Missense_A316V exm115492 1 160136447 [T/C] NM_144699 ATP1A4 EXON Missense_R393C exm115496 1 160136459 [A/G] NM_144699 ATP1A4 EXON Missense_A397T exm115508 1 160137113 [A/G] NM_144699 ATP1A4 EXON Missense_I468V exm115517 1 160141123 [A/G] NM_144699 ATP1A4 EXON Missense_C525Y exm115519 1 160141161 [A/G] NM_144699 ATP1A4 EXON Missense_N538D exm115521 1 160141171 [T/G] NM_144699 ATP1A4 EXON Missense_M541R exm115523 1 160141195 [A/G] NM_144699 ATP1A4 EXON Missense_Y549C exm115528 1 160141451 [A/G] NM_144699 ATP1A4 EXON Missense_M586I exm115531 1 160141491 [T/C] NM_144699 ATP1A4 EXON Missense_P600S exm115534 1 160141525 [A/G] NM_144699 ATP1A4 EXON Missense_K611R exm115537 1 160143422 [T/G] NM_144699 ATP1A4 EXON Missense_G636C exm115539 1 160143453 [T/C] NM_144699 ATP1A4 EXON Missense_T646M exm115547 1 160143962 [G/C] NM_144699 ATP1A4 EXON Missense_D685H exm115551 1 160144384 [A/G] NM_144699 ATP1A4 EXON Missense_V720M exm115552 1 160144396 [A/G] NM_144699 ATP1A4 EXON Missense_G724R exm1722393 1 160144538 [T/G] NM_144699 ATP1A4 Silent exm2268770 1 160144895 [T/C] NM_144699 ATP1A4 Silent exm115572 1 160146341 [A/T] NM_144699 ATP1A4 EXON Missense_T847S exm115576 1 160147312 [T/C] NM_144699,NM_001001734 ATP1A4,ATP1A4 EXON Missense_M865T,Missense_M1T exm115578 1 160147345 [T/C] NM_144699,NM_001001734 ATP1A4,ATP1A4 EXON Missense_F876S,Missense_F12S exm115579 1 160147429 [A/T] NM_144699,NM_001001734 ATP1A4,ATP1A4 EXON Missense_L904Q,Missense_L40Q exm115593 1 160151799 [A/G] NM_144699,NM_001001734 ATP1A4,ATP1A4 EXON Missense_A983T,Missense_A119T exm115598 1 160156133 [T/C] NM_144699,NM_001001734 ATP1A4,ATP1A4 EXON Missense_L1013F,Missense_L149F exm115615 1 160160671 [A/G] NM_001231 CASQ1 EXON Missense_D44N exm115616 1 160160675 [T/G] NM_001231 CASQ1 EXON Missense_G45V exm115619 1 160160756 [A/G] NM_001231 CASQ1 EXON Missense_H72R exm115622 1 160160767 [A/G] NM_001231 CASQ1 EXON Missense_E76K exm115626 1 160160801 [T/C] NM_001231 CASQ1 EXON Missense_M87T exm115628 1 160162591 [G/C] NM_001231 CASQ1 Silent exm115634 1 160163591 [A/T] NM_001231 CASQ1 EXON Missense_Y140F exm115636 1 160163615 [T/C] NM_001231 CASQ1 EXON Missense_T148I exm115642 1 160164827 [T/C] NM_001231 CASQ1 EXON Missense_I164T exm115652 1 160165695 [T/G] NM_001231 CASQ1 EXON Missense_K220N exm115664 1 160168800 [G/C] NM_001231 CASQ1 EXON Missense_P314R exm115668 1 160171036 [T/C] NM_001231 CASQ1 EXON Missense_A354V exm115673 1 160171108 [A/G] NM_001231 CASQ1 EXON Missense_E378G exm115680 1 160181360 [A/G] NM_003768 PEA15 EXON Missense_Q9R exm115681 1 160181369 [A/C] NM_003768 PEA15 EXON Missense_T12N exm115711 1 160192473 [T/C] NR_028103,NR_028104,NM_015726 DCAF8,DCAF8,DCAF8 EXON Silent,Silent,Missense_I470V exm1722483 1 160201129 [T/C] NR_028103,NR_028104,NM_015726 DCAF8,DCAF8,DCAF8 EXON Silent,Silent,Missense_N343S exm115749 1 160209852 [A/G] NR_028103,NR_028104,NM_015726,NR_028105,NR_028106 DCAF8,DCAF8,DCAF8,DCAF8,DCAF8 EXON Silent,Silent,Missense_R120C,Silent,Silent exm115750 1 160209860 [T/C] NR_028103,NR_028104,NM_015726,NR_028105,NR_028106 DCAF8,DCAF8,DCAF8,DCAF8,DCAF8 EXON Silent,Silent,Missense_R117H,Silent,Silent exm115757 1 160210035 [A/G] NR_028103,NR_028104,NM_015726,NR_028105,NR_028106 DCAF8,DCAF8,DCAF8,DCAF8,DCAF8 EXON Silent,Silent,Missense_R59C,Silent,Silent exm115762 1 160249362 [A/G] NM_002857,NR_036493,NM_001193644,NR_036492 PEX19,PEX19,PEX19,PEX19 EXON Synonymous_G293G,Silent,Missense_V276A,Silent exm115763 1 160249363 [C/G] NM_002857,NR_036493,NM_001193644,NR_036492 PEX19,PEX19,PEX19,PEX19 EXON Missense_G293A,Silent,Missense_V276L,Silent exm115766 1 160249384 [G/C] NM_002857,NR_036493,NM_001193644,NR_036492 PEX19,PEX19,PEX19,PEX19 EXON Missense_S286W,Silent,Silent,Silent exm115789 1 160251925 [A/C] NM_002857,NR_036493,NM_001193644,NR_036492 PEX19,PEX19,PEX19,PEX19 EXON Missense_D166E,Silent,Missense_D166E,Silent exm115799 1 160252291 [A/G] NM_002857,NR_036493,NM_001193644,NR_036492 PEX19,PEX19,PEX19,PEX19 EXON Synonymous_G116G,Silent,Synonymous_G116G,Silent exm115805 1 160252826 [A/G] NM_002857,NR_036493,NM_001193644,NR_036492 PEX19,PEX19,PEX19,PEX19 EXON Missense_A85V,Silent,Missense_A85V,Silent exm115810 1 160253385 [A/G] NM_002857,NR_036493,NM_001193644,NR_036492 PEX19,PEX19,PEX19,PEX19 EXON Missense_P39S,Silent,Missense_P39S,Silent exm115812 1 160253424 [T/G] NM_002857,NR_036493,NM_001193644,NR_036492 PEX19,PEX19,PEX19,PEX19 EXON Missense_L26I,Silent,Missense_L26I,Silent exm115818 1 160254899 [T/C] NM_002857,NR_036493,NM_001193644,NR_036492 PEX19,PEX19,PEX19,PEX19 EXON Missense_E6K,Silent,Missense_E6K,Silent exm1722575 1 160261619 [A/C] NM_004371,NM_001098398 COPA,COPA EXON Missense_R1083L,Missense_R1092L exm115836 1 160261683 [A/C] NM_004371,NM_001098398 COPA,COPA EXON Missense_V1062L,Missense_V1071L exm115858 1 160264593 [T/C] NM_004371,NM_001098398 COPA,COPA EXON Missense_G844D,Missense_G853D exm115861 1 160264641 [T/C] NM_004371,NM_001098398 COPA,COPA EXON Missense_G828E,Missense_G837E exm115863 1 160265582 [T/G] NM_004371,NM_001098398 COPA,COPA EXON Missense_N807T,Missense_N816T exm115869 1 160267162 [T/C] NM_004371,NM_001098398 COPA,COPA EXON Missense_R745H,Missense_R754H exm115896 1 160278905 [A/G] NM_004371,NM_001098398 COPA,COPA EXON Missense_S402F,Missense_S402F exm115906 1 160281740 [T/C] NM_004371,NM_001098398 COPA,COPA EXON Missense_M332V,Missense_M332V exm115913 1 160283859 [T/C] NM_004371,NM_001098398 COPA,COPA EXON Missense_A255T,Missense_A255T exm115926 1 160302298 [T/C] NM_004371,NM_001098398 COPA,COPA EXON Missense_T146A,Missense_T146A exm115943 1 160312927 [T/C] NM_004371,NM_001098398 COPA,COPA EXON Missense_V12I,Missense_V12I exm115964 1 160318881 [A/G] NM_015331 NCSTN EXON Missense_M95V exm115991 1 160322750 [A/G] NM_015331 NCSTN EXON Missense_E357G exm115999 1 160323939 [A/G] NM_015331 NCSTN EXON Missense_S404N exm116000 1 160323957 [T/C] NM_015331 NCSTN EXON Missense_A410V exm116001 1 160323977 [T/A] NM_015331 NCSTN EXON Missense_N417Y exm2250058 1 160326112 [C/G] NM_015331 NCSTN EXON Synonymous_L538L exm116012 1 160326112 [C/G] NM_015331 NCSTN EXON Synonymous_L538L exm116014 1 160326395 [A/G] NM_015331 NCSTN EXON Missense_G549R exm116018 1 160326489 [A/G] NM_015331 NCSTN EXON Missense_N580S exm116026 1 160327027 [G/C] NM_015331 NCSTN EXON Missense_A664G exm116028 1 160328035 [T/C] NM_015331 NCSTN EXON Missense_R702W exm116037 1 160340673 [G/C] NM_005598 NHLH1 EXON Missense_G51A exm116045 1 160340906 [T/C] NM_005598 NHLH1 EXON Missense_H129Y exm116054 1 160385871 [T/C] NM_020335 VANGL2 EXON Missense_R31C exm2231602 1 160385970 [C/G] NM_020335 VANGL2 EXON Missense_R64G exm116064 1 160388867 [T/C] NM_020335 VANGL2 EXON Missense_R90C exm116082 1 160389108 [A/G] NM_020335 VANGL2 EXON Missense_R170Q exm116097 1 160389322 [T/G] NM_020335 VANGL2 EXON Missense_Q241H exm116098 1 160389323 [G/C] NM_020335 VANGL2 EXON Missense_L242V exm116104 1 160390242 [A/G] NM_020335 VANGL2 EXON Missense_H281R exm116106 1 160390284 [A/G] NM_020335 VANGL2 EXON Missense_K295R exm116117 1 160393930 [T/C] NM_020335 VANGL2 EXON Missense_R388W exm2273711 1 160394930 [T/C] NM_020335 VANGL2 EXON Missense_A443V exm116127 1 160394963 [A/G] NM_020335 VANGL2 EXON Missense_R454H exm116128 1 160394996 [A/C] NM_020335 VANGL2 EXON Missense_E465A exm116133 1 160395047 [A/G] NM_020335 VANGL2 EXON Missense_R482H exm116146 1 160458901 [T/C] NM_001184715,NM_052931,NM_001184716,NM_001184714 SLAMF6,SLAMF6,SLAMF6,SLAMF6 EXON Missense_A236T,Missense_A285T,Missense_A175T,Missense_A286T exm116149 1 160459989 [A/G] NM_001184715,NM_052931,NM_001184716,NM_001184714 SLAMF6,SLAMF6,SLAMF6,SLAMF6 EXON Synonymous_P216P,Synonymous_P265P,Synonymous_P154P,Synonymous_P265P exm116150 1 160460002 [T/C] NM_001184715,NM_052931,NM_001184716,NM_001184714 SLAMF6,SLAMF6,SLAMF6,SLAMF6 EXON Missense_R212Q,Missense_R261Q,Missense_R150Q,Missense_R261Q exm116157 1 160460919 [A/G] NM_001184715,NM_052931,NM_001184716,NM_001184714 SLAMF6,SLAMF6,SLAMF6,SLAMF6 EXON Synonymous_C165C,Synonymous_C214C,Synonymous_C103C,Synonymous_C214C exm2250059 1 160460919 [A/G] NM_001184715,NM_052931,NM_001184716,NM_001184714 SLAMF6,SLAMF6,SLAMF6,SLAMF6 EXON Synonymous_C165C,Synonymous_C214C,Synonymous_C103C,Synonymous_C214C exm116167 1 160465934 [T/G] NM_001184715,NM_052931,NM_001184716,NM_001184714 SLAMF6,SLAMF6,SLAMF6,SLAMF6 EXON Missense_K51T,Missense_K100T,Silent,Missense_K100T exm116168 1 160466004 [T/C] NM_001184715,NM_052931,NM_001184716,NM_001184714 SLAMF6,SLAMF6,SLAMF6,SLAMF6 EXON Missense_V28M,Missense_V77M,Silent,Missense_V77M exm116171 1 160492966 [T/C] NM_001184715,NM_052931,NM_001184716,NM_001184714 SLAMF6,SLAMF6,SLAMF6,SLAMF6 EXON Missense_Q6R,Missense_Q6R,Missense_Q6R,Missense_Q6R exm116177 1 160518056 [A/G] NM_003874,NM_001184879,NM_001184882,NM_001184881 CD84,CD84,CD84,CD84 EXON Missense_I326T,Missense_I343T,Missense_I212T,Silent exm116180 1 160518074 [T/C] NM_003874,NM_001184879,NM_001184882,NM_001184881 CD84,CD84,CD84,CD84 EXON Missense_G320E,Missense_G337E,Missense_G206E,Silent exm116187 1 160519728 [A/G] NM_003874,NM_001184879,NM_001184882,NM_001184881 CD84,CD84,CD84,CD84 EXON Synonymous_S300S,Synonymous_S317S,Synonymous_S186S,Nonsense_R268X exm116191 1 160520771 [T/C] NM_003874,NM_001184879,NM_001184882,NM_001184881 CD84,CD84,CD84,CD84 EXON Missense_Q272R,Missense_Q289R,Missense_Q158R,Silent exm116192 1 160520774 [A/G] NM_003874,NM_001184879,NM_001184882,NM_001184881 CD84,CD84,CD84,CD84 EXON Missense_T271I,Missense_T288I,Missense_T157I,Silent exm116199 1 160523186 [A/C] NM_003874,NM_001184879,NM_001184882,NM_001184881 CD84,CD84,CD84,CD84 EXON Missense_L248V,Missense_L248V,Missense_L134V,Missense_L248V exm116202 1 160523243 [T/C] NM_003874,NM_001184879,NM_001184882,NM_001184881 CD84,CD84,CD84,CD84 EXON Missense_V229M,Missense_V229M,Missense_V115M,Missense_V229M exm116204 1 160523264 [A/G] NM_003874,NM_001184879,NM_001184882,NM_001184881 CD84,CD84,CD84,CD84 EXON Missense_H222Y,Missense_H222Y,Missense_H108Y,Missense_H222Y exm116206 1 160523270 [A/G] NM_003874,NM_001184879,NM_001184882,NM_001184881 CD84,CD84,CD84,CD84 EXON Missense_R220C,Missense_R220C,Missense_R106C,Missense_R220C exm116214 1 160523750 [A/G] NM_003874,NM_001184879,NM_001184882,NM_001184881 CD84,CD84,CD84,CD84 EXON Missense_T192M,Missense_T192M,Missense_T78M,Missense_T192M exm116219 1 160523860 [A/G] NM_003874,NM_001184879,NM_001184882,NM_001184881 CD84,CD84,CD84,CD84 EXON Synonymous_C155C,Synonymous_C155C,Synonymous_C41C,Synonymous_C155C exm1722830 1 160535331 [T/C] NM_003874,NM_001184879,NM_001184882,NM_001184881 CD84,CD84,CD84,CD84 EXON Missense_R84Q,Missense_R84Q,Silent,Missense_R84Q exm116230 1 160535367 [A/G] NM_003874,NM_001184879,NM_001184882,NM_001184881 CD84,CD84,CD84,CD84 EXON Missense_P72L,Missense_P72L,Silent,Missense_P72L exm116233 1 160535493 [T/A] NM_003874,NM_001184879,NM_001184882,NM_001184881 CD84,CD84,CD84,CD84 EXON Missense_N30I,Missense_N30I,Silent,Missense_N30I exm116241 1 160580549 [T/G] NM_003037 SLAMF1 EXON Missense_P333T exm116244 1 160582292 [A/G] NM_003037 SLAMF1 EXON Missense_P315S exm116245 1 160582319 [T/C] NM_003037 SLAMF1 EXON Missense_I306V exm116248 1 160589609 [T/C] NM_003037 SLAMF1 EXON Missense_E274G exm116253 1 160593966 [A/G] NM_003037 SLAMF1 EXON Missense_P237L exm116262 1 160604544 [G/C] NM_003037 SLAMF1 EXON Missense_P187A exm116266 1 160607037 [A/G] NM_003037 SLAMF1 EXON Missense_M120T exm116279 1 160607307 [A/G] NM_003037 SLAMF1 EXON Missense_M30T exm116281 1 160607318 [A/G] NM_003037 SLAMF1 EXON Synonymous_G26G exm116285 1 160616689 [A/G] NM_003037 SLAMF1 EXON Missense_S16F exm116286 1 160616703 [T/G] NM_003037 SLAMF1 EXON Missense_F11L exm116289 1 160616729 [T/G] NM_003037 SLAMF1 EXON Missense_P3T exm116293 1 160648852 [A/G] NM_001778 CD48 EXON Missense_L241S exm116296 1 160648899 [C/G] NM_001778 CD48 EXON Missense_W225C exm2259826 1 160650913 [A/G] NM_001778,NM_001256030 CD48,CD48 EXON Silent,Missense_I244T exm116297 1 160650997 [A/G] NM_001778,NM_001256030 CD48,CD48 EXON Missense_T216I,Missense_T216I exm116300 1 160651021 [A/G] NM_001778,NM_001256030 CD48,CD48 EXON Missense_T208M,Missense_T208M exm1723022 1 160651069 [A/C] NM_001778,NM_001256030 CD48,CD48 EXON Missense_R192M,Missense_R192M exm116315 1 160654715 [T/C] NM_001778,NM_001256030 CD48,CD48 EXON Missense_G116E,Missense_G116E exm116316 1 160654738 [G/C] NM_001778,NM_001256030 CD48,CD48 EXON Missense_I108M,Missense_I108M exm116317 1 160654758 [G/C] NM_001778,NM_001256030 CD48,CD48 EXON Missense_E102Q,Missense_E102Q exm116337 1 160681531 [A/G] NM_001778,NM_001256030 CD48,CD48 EXON Missense_S8L,Missense_S8L exm116342 1 160709111 [A/G] NM_021181 SLAMF7 EXON Missense_C7Y exm116346 1 160717985 [T/G] NM_021181 SLAMF7 EXON Synonymous_G19G exm1723187 1 160718155 [A/G] NM_021181 SLAMF7 EXON Missense_R76H exm116364 1 160719757 [T/C] NM_021181 SLAMF7 EXON Missense_H175Y exm116365 1 160719767 [C/G] NM_021181 SLAMF7 EXON Missense_S178C exm2231613 1 160719809 [C/G] NM_021181 SLAMF7 EXON Missense_T192S exm116369 1 160719843 [A/C] NM_021181 SLAMF7 EXON Missense_R203S exm116378 1 160720143 [T/G] NM_021181 SLAMF7 EXON Missense_L233F exm116385 1 160721161 [A/G] NM_021181 SLAMF7 EXON Missense_D266N exm116386 1 160721162 [A/G] NM_021181 SLAMF7 EXON Missense_D266G exm116387 1 160721170 [T/C] NM_021181 SLAMF7 EXON Missense_R269W exm2231614 1 160722007 [T/C] NM_021181 SLAMF7 EXON Missense_T302M exm116394 1 160722900 [A/C] NM_021181 SLAMF7 EXON Missense_E314A exm116404 1 160769567 [A/C] NM_001033667,NM_002348,NM_001261456,NM_001261457 LY9,LY9,LY9,LY9 EXON Nonsense_S50X,Nonsense_S50X,Nonsense_S50X,Nonsense_S50X exm116412 1 160769636 [T/C] NM_001033667,NM_002348,NM_001261456,NM_001261457 LY9,LY9,LY9,LY9 EXON Missense_T73I,Missense_T73I,Missense_T73I,Missense_T73I exm1723226 1 160769650 [A/G] NM_001033667,NM_002348,NM_001261456,NM_001261457 LY9,LY9,LY9,LY9 EXON Missense_V78I,Missense_V78I,Missense_V78I,Missense_V78I exm116415 1 160769666 [T/C] NM_001033667,NM_002348,NM_001261456,NM_001261457 LY9,LY9,LY9,LY9 EXON Missense_P83L,Missense_P83L,Missense_P83L,Missense_P83L exm116416 1 160769670 [T/A] NM_001033667,NM_002348,NM_001261456,NM_001261457 LY9,LY9,LY9,LY9 EXON Missense_K84N,Missense_K84N,Missense_K84N,Missense_K84N exm116417 1 160769690 [A/G] NM_001033667,NM_002348,NM_001261456,NM_001261457 LY9,LY9,LY9,LY9 EXON Missense_R91H,Missense_R91H,Missense_R91H,Missense_R91H exm116418 1 160769735 [A/G] NM_001033667,NM_002348,NM_001261456,NM_001261457 LY9,LY9,LY9,LY9 EXON Missense_R106Q,Missense_R106Q,Missense_R106Q,Missense_R106Q exm116422 1 160769866 [A/G] NM_001033667,NM_002348,NM_001261456,NM_001261457 LY9,LY9,LY9,LY9 EXON Missense_V150I,Missense_V150I,Missense_V150I,Missense_V150I exm116437 1 160783557 [A/C] NM_002348,NM_001261456,NM_001261457 LY9,LY9,LY9 EXON Missense_P196T,Missense_P196T,Missense_P196T exm116442 1 160783603 [A/G] NM_002348,NM_001261456,NM_001261457 LY9,LY9,LY9 EXON Missense_R211Q,Missense_R211Q,Missense_R211Q exm116443 1 160783621 [A/C] NM_002348,NM_001261456,NM_001261457 LY9,LY9,LY9 EXON Missense_D217A,Missense_D217A,Missense_D217A exm1723269 1 160783678 [T/C] NM_002348,NM_001261456,NM_001261457 LY9,LY9,LY9 EXON Missense_V236A,Missense_V236A,Missense_V236A exm116452 1 160784287 [A/G] NM_002348,NM_001261456,NM_001261457 LY9,LY9,LY9 EXON Missense_A270T,Missense_A270T,Missense_A270T exm116453 1 160784302 [T/C] NM_002348,NM_001261456,NM_001261457 LY9,LY9,LY9 EXON Missense_R275W,Missense_R275W,Missense_R275W exm1723273 1 160784494 [A/G] NM_002348,NM_001261456,NM_001261457 LY9,LY9,LY9 EXON Missense_V339M,Missense_V339M,Missense_V339M exm116461 1 160784549 [A/T] NM_002348,NM_001261456,NM_001261457 LY9,LY9,LY9 EXON Missense_Y357F,Missense_Y357F,Missense_Y357F exm116462 1 160784551 [T/C] NM_002348,NM_001261456,NM_001261457 LY9,LY9,LY9 EXON Missense_R358C,Missense_R358C,Nonsense_R358X exm116465 1 160786385 [T/C] NM_002348,NM_001261456,NM_001261457 LY9,LY9,LY9 EXON Synonymous_R358R,Synonymous_R358R,Silent exm116471 1 160786464 [A/G] NM_002348,NM_001261456,NM_001261457 LY9,LY9,LY9 EXON Missense_V385M,Missense_V385M,Silent exm1723279 1 160786549 [A/G] NM_002348,NM_001261456,NM_001261457 LY9,LY9,LY9 EXON Missense_N413S,Missense_N413S,Silent exm116483 1 160788067 [A/G] NM_002348,NM_001261456,NM_001261457 LY9,LY9,LY9 EXON Missense_V468I,Missense_V468I,Missense_V378I exm116484 1 160788068 [T/C] NM_002348,NM_001261456,NM_001261457 LY9,LY9,LY9 EXON Missense_V468A,Missense_V468A,Missense_V378A exm116486 1 160788097 [T/C] NM_002348,NM_001261456,NM_001261457 LY9,LY9,LY9 EXON Nonsense_R478X,Nonsense_R478X,Nonsense_R388X exm116496 1 160793293 [T/C] NM_002348,NM_001261456,NM_001261457 LY9,LY9,LY9 EXON Nonsense_Q513X,Silent,Nonsense_Q423X exm116509 1 160793560 [A/G] NM_002348,NM_001261456,NM_001261457 LY9,LY9,LY9 EXON Missense_M602V,Missense_M588V,Missense_M512V exm116520 1 160797604 [T/G] NM_002348,NM_001261456,NM_001261457 LY9,LY9,LY9 EXON Missense_X656G,Missense_X642G,Missense_X566G exm116527 1 160801162 [A/C] NM_001166664,NM_016382,NM_001166663 CD244,CD244,CD244 EXON Missense_L266R,Missense_L358R,Missense_L363R exm116528 1 160801172 [A/G] NM_001166664,NM_016382,NM_001166663 CD244,CD244,CD244 EXON Missense_R263C,Missense_R355C,Missense_R360C exm116531 1 160801214 [A/C] NM_001166664,NM_016382,NM_001166663 CD244,CD244,CD244 EXON Nonsense_G249X,Nonsense_G341X,Nonsense_G346X exm1723306 1 160802314 [T/C] NM_001166664,NM_016382,NM_001166663 CD244,CD244,CD244 EXON Missense_E246K,Missense_E338K,Missense_E343K exm116537 1 160803848 [A/G] NM_001166664,NM_016382,NM_001166663 CD244,CD244,CD244 EXON Missense_S226F,Missense_S318F,Missense_S323F exm1723312 1 160806025 [A/G] NM_001166664,NM_016382,NM_001166663 CD244,CD244,CD244 EXON Missense_P193L,Missense_P285L,Missense_P290L exm2268771 1 160807715 [T/C] NM_001166664,NM_016382,NM_001166663 CD244,CD244,CD244 Silent,Silent,Silent exm116556 1 160808810 [T/C] NM_001166664,NM_016382,NM_001166663 CD244,CD244,CD244 EXON Missense_I137V,Missense_I229V,Missense_I234V exm1723320 1 160811001 [A/C] NM_001166664,NM_016382,NM_001166663 CD244,CD244,CD244 EXON Silent,Missense_Q218H,Missense_Q223H exm116561 1 160811120 [A/G] NM_001166664,NM_016382,NM_001166663 CD244,CD244,CD244 EXON Silent,Missense_Y179H,Missense_Y184H exm116564 1 160811374 [G/C] NM_001166664,NM_016382,NM_001166663 CD244,CD244,CD244 EXON Missense_E127Q,Missense_D127H,Missense_E127Q exm116565 1 160811488 [T/C] NM_001166664,NM_016382,NM_001166663 CD244,CD244,CD244 EXON Missense_N89D,Missense_N89D,Missense_N89D exm116569 1 160811558 [C/G] NM_001166664,NM_016382,NM_001166663 CD244,CD244,CD244 EXON Missense_H65Q,Missense_H65Q,Missense_H65Q exm116571 1 160811621 [T/C] NM_001166664,NM_016382,NM_001166663 CD244,CD244,CD244 EXON Missense_I44M,Missense_I44M,Missense_I44M exm116574 1 160811647 [A/G] NM_001166664,NM_016382,NM_001166663 CD244,CD244,CD244 EXON Missense_P36S,Missense_P36S,Missense_P36S exm116583 1 160832463 [A/C] NM_001166664,NM_016382,NM_001166663 CD244,CD244,CD244 EXON Missense_L2R,Missense_L2R,Missense_L2R exm116587 1 160846458 [C/G] NM_017625 ITLN1 EXON Missense_R313P exm1723340 1 160846462 [A/G] NM_017625 ITLN1 EXON Missense_Y312H exm116594 1 160849101 [A/G] NM_017625 ITLN1 EXON Synonymous_H263H exm116599 1 160850377 [T/C] NM_017625 ITLN1 Silent exm116604 1 160850417 [T/C] NM_017625 ITLN1 EXON Missense_A216T exm116607 1 160850449 [A/G] NM_017625 ITLN1 EXON Missense_P205L exm116614 1 160850944 [A/C] NM_017625 ITLN1 EXON Missense_Q188H exm116618 1 160850999 [T/C] NM_017625 ITLN1 EXON Missense_R170H exm1723352 1 160851047 [T/C] NM_017625 ITLN1 EXON Missense_N154S exm116627 1 160851763 [A/G] NM_017625 ITLN1 EXON Missense_T130M exm1723360 1 160851967 [T/C] NM_017625 ITLN1 EXON Missense_N62S exm116648 1 160851977 [A/G] NM_017625 ITLN1 EXON Missense_R59C exm-rs2274910 1 160852046 [T/C] NM_017625 ITLN1 Silent exm116654 1 160853247 [T/G] NM_017625 ITLN1 EXON Missense_E43A exm116662 1 160914970 [T/C] NM_080878 ITLN2 EXON Missense_R313Q exm116665 1 160915019 [T/C] NM_080878 ITLN2 EXON Missense_A297T exm116666 1 160915037 [A/G] NM_080878 ITLN2 EXON Nonsense_Q291X exm116674 1 160917765 [T/C] NM_080878 ITLN2 EXON Missense_N260S exm116678 1 160919847 [A/G] NM_080878 ITLN2 EXON Missense_P237L exm116682 1 160919952 [T/C] NM_080878 ITLN2 EXON Missense_Y202C exm116692 1 160920431 [T/C] NM_080878 ITLN2 EXON Missense_Q171R exm116693 1 160920441 [A/G] NM_080878 ITLN2 EXON Missense_S168P exm116701 1 160920846 [T/C] NM_080878 ITLN2 EXON Missense_S143N exm116704 1 160920856 [T/C] NM_080878 ITLN2 EXON Missense_A140T exm116719 1 160921062 [T/C] NM_080878 ITLN2 EXON Missense_R71H exm116727 1 160922421 [T/G] NM_080878 ITLN2 EXON Missense_H61P exm116737 1 160924178 [T/C] NM_080878 ITLN2 EXON Synonymous_A26A exm2273340 1 160968609 [A/G] NM_016946 F11R EXON Silent exm116750 1 160968873 [T/C] NM_016946 F11R EXON Missense_S275N exm116756 1 160969444 [T/C] NM_016946 F11R EXON Missense_R263Q exm116763 1 160969677 [T/C] NM_016946 F11R EXON Missense_R228H exm116765 1 160969752 [A/G] NM_016946 F11R EXON Missense_S203L exm116776 1 160970085 [A/G] NM_016946 F11R EXON Missense_R148W exm2250066 1 160970089 [T/C] NM_016946 F11R EXON Synonymous_G146G exm116780 1 160970427 [T/C] NM_016946 F11R EXON Missense_V128M exm116783 1 160970508 [A/G] NM_016946 F11R EXON Missense_R101W exm116784 1 160970535 [T/C] NM_016946 F11R EXON Missense_T92A exm2273341 1 161009523 [A/G] NM_001276373,NM_007122,NM_207005 USF1,USF1,USF1 EXON Silent,Silent,Silent exm116850 1 161011931 [T/G] NM_001276373,NM_007122,NM_207005 USF1,USF1,USF1 EXON Missense_Y84S,Missense_Y84S,Missense_Y25S exm116857 1 161012448 [T/G] NM_001276373,NM_007122,NM_207005 USF1,USF1,USF1 EXON Missense_T24N,Missense_T24N,Silent exm116882 1 161017761 [T/C] NM_181720,NM_001025598 ARHGAP30,ARHGAP30 EXON Missense_R806Q,Missense_R1017Q exm116883 1 161017765 [A/G] NM_181720,NM_001025598 ARHGAP30,ARHGAP30 EXON Missense_R805W,Missense_R1016W exm116885 1 161017791 [T/C] NM_181720,NM_001025598 ARHGAP30,ARHGAP30 EXON Missense_R796H,Missense_R1007H exm2250068 1 161018009 [T/G] NM_181720,NM_001025598 ARHGAP30,ARHGAP30 EXON Synonymous_V723V,Synonymous_V934V exm116894 1 161018009 [T/G] NM_181720,NM_001025598 ARHGAP30,ARHGAP30 EXON Synonymous_V723V,Synonymous_V934V exm116902 1 161018214 [T/C] NM_181720,NM_001025598 ARHGAP30,ARHGAP30 EXON Silent,Missense_G866D exm116903 1 161018224 [T/C] NM_181720,NM_001025598 ARHGAP30,ARHGAP30 EXON Silent,Missense_E863K exm116906 1 161018268 [T/C] NM_181720,NM_001025598 ARHGAP30,ARHGAP30 EXON Silent,Missense_D848G exm116909 1 161018392 [A/G] NM_181720,NM_001025598 ARHGAP30,ARHGAP30 EXON Silent,Missense_Y807H exm116910 1 161018422 [C/G] NM_181720,NM_001025598 ARHGAP30,ARHGAP30 EXON Silent,Missense_D797H exm116916 1 161018590 [T/C] NM_181720,NM_001025598 ARHGAP30,ARHGAP30 EXON Silent,Missense_E741K exm116917 1 161018598 [T/C] NM_181720,NM_001025598 ARHGAP30,ARHGAP30 EXON Silent,Missense_G738E exm116924 1 161018880 [C/G] NM_181720,NM_001025598 ARHGAP30,ARHGAP30 EXON Missense_A644G,Missense_A644G exm116925 1 161018896 [T/C] NM_181720,NM_001025598 ARHGAP30,ARHGAP30 EXON Missense_G639R,Missense_G639R exm116933 1 161019040 [C/G] NM_181720,NM_001025598 ARHGAP30,ARHGAP30 EXON Missense_L591V,Missense_L591V exm116934 1 161019057 [A/G] NM_181720,NM_001025598 ARHGAP30,ARHGAP30 EXON Missense_A585V,Missense_A585V exm116935 1 161019102 [A/G] NM_181720,NM_001025598 ARHGAP30,ARHGAP30 EXON Missense_P570L,Missense_P570L exm116948 1 161021106 [A/G] NM_181720,NM_001025598 ARHGAP30,ARHGAP30 EXON Missense_P473L,Missense_P473L exm116965 1 161021430 [A/G] NM_181720,NM_001025598 ARHGAP30,ARHGAP30 EXON Missense_I365T,Missense_I365T exm116966 1 161021437 [T/C] NM_181720,NM_001025598 ARHGAP30,ARHGAP30 EXON Missense_D363N,Missense_D363N exm116970 1 161021479 [T/C] NM_181720,NM_001025598 ARHGAP30,ARHGAP30 EXON Missense_S349G,Missense_S349G exm116971 1 161021490 [A/C] NM_181720,NM_001025598 ARHGAP30,ARHGAP30 EXON Missense_V345G,Missense_V345G exm116972 1 161021491 [T/C] NM_181720,NM_001025598 ARHGAP30,ARHGAP30 EXON Missense_V345M,Missense_V345M exm116992 1 161022560 [A/G] NM_181720,NM_001025598 ARHGAP30,ARHGAP30 EXON Missense_S231L,Missense_S231L exm116998 1 161023074 [T/C] NM_181720,NM_001025598 ARHGAP30,ARHGAP30 EXON Missense_Q213R,Missense_Q213R exm117001 1 161023090 [A/G] NM_181720,NM_001025598 ARHGAP30,ARHGAP30 EXON Missense_L208F,Missense_L208F exm117002 1 161023102 [T/C] NM_181720,NM_001025598 ARHGAP30,ARHGAP30 EXON Missense_V204M,Missense_V204M exm117007 1 161024455 [T/C] NM_181720,NM_001025598 ARHGAP30,ARHGAP30 EXON Missense_K129R,Missense_K129R exm117011 1 161026285 [A/G] NM_181720,NM_001025598 ARHGAP30,ARHGAP30 EXON Missense_R80W,Missense_R80W exm117027 1 161042515 [A/C] NM_030916 PVRL4 EXON Missense_G490V exm117029 1 161042519 [T/C] NM_030916 PVRL4 EXON Missense_N489D exm117034 1 161042597 [G/C] NM_030916 PVRL4 EXON Missense_P463A exm117036 1 161042644 [A/G] NM_030916 PVRL4 EXON Missense_T447M exm117037 1 161042657 [A/G] NM_030916 PVRL4 EXON Missense_R443C exm2250070 1 161043087 [T/C] NM_030916 PVRL4 EXON Synonymous_P412P exm2250071 1 161043564 [C/G] NM_030916 PVRL4 EXON Synonymous_T393T exm117048 1 161044035 [A/G] NM_030916 PVRL4 EXON Missense_R377C exm117056 1 161044125 [A/G] NM_030916 PVRL4 EXON Missense_S347P exm117058 1 161044163 [T/A] NM_030916 PVRL4 EXON Missense_D334V exm117068 1 161044549 [A/C] NM_030916 PVRL4 EXON Synonymous_R284R exm117070 1 161046218 [A/G] NM_030916 PVRL4 EXON Missense_H260Y exm117079 1 161049383 [T/G] NM_030916 PVRL4 EXON Missense_L146M exm117084 1 161049499 [A/G] NM_030916 PVRL4 EXON Missense_P107L exm117086 1 161049509 [T/G] NM_030916 PVRL4 EXON Missense_P104T exm117092 1 161049643 [T/C] NM_030916 PVRL4 EXON Missense_G59D exm117094 1 161049662 [A/G] NM_030916 PVRL4 EXON Missense_F53L exm117101 1 161068365 [C/G] NR_033385,NR_033386,NM_152366,NM_001007255 KLHDC9,KLHDC9,KLHDC9,KLHDC9 EXON Silent,Silent,Missense_G14R,Missense_G14R exm117103 1 161068428 [A/G] NR_033385,NR_033386,NM_152366,NM_001007255 KLHDC9,KLHDC9,KLHDC9,KLHDC9 EXON Silent,Silent,Missense_E35K,Missense_E35K exm2273712 1 161068441 [A/G] NR_033385,NR_033386,NM_152366,NM_001007255 KLHDC9,KLHDC9,KLHDC9,KLHDC9 EXON Silent,Silent,Missense_R39Q,Missense_R39Q exm117112 1 161068749 [A/G] NR_033385,NR_033386,NM_152366,NM_001007255 KLHDC9,KLHDC9,KLHDC9,KLHDC9 EXON Silent,Silent,Missense_D142N,Missense_D142N exm117119 1 161068836 [A/C] NR_033385,NR_033386,NM_152366,NM_001007255 KLHDC9,KLHDC9,KLHDC9,KLHDC9 EXON Silent,Silent,Missense_S171R,Missense_S171R exm117127 1 161069277 [A/G] NR_033385,NR_033386,NM_152366,NM_001007255 KLHDC9,KLHDC9,KLHDC9,KLHDC9 EXON Silent,Silent,Nonsense_W223X,Nonsense_W223X exm117130 1 161069446 [T/G] NR_033385,NR_033386,NM_152366,NM_001007255 KLHDC9,KLHDC9,KLHDC9,KLHDC9 EXON Silent,Silent,Missense_G249V,Missense_W255C exm117135 1 161069544 [A/G] NR_033385,NR_033386,NM_152366,NM_001007255 KLHDC9,KLHDC9,KLHDC9,KLHDC9 EXON Silent,Silent,Missense_A282T,Missense_S288N exm117137 1 161069587 [G/C] NR_033385,NR_033386,NM_152366,NM_001007255 KLHDC9,KLHDC9,KLHDC9,KLHDC9 Silent,Silent,Silent,Silent exm117138 1 161069881 [T/C] NR_033385,NR_033386,NM_152366,NM_001007255 KLHDC9,KLHDC9,KLHDC9,KLHDC9 EXON Silent,Silent,Missense_P306L,Silent exm117143 1 161070525 [T/C] NM_012394 PFDN2 EXON Missense_N138S exm117154 1 161072149 [T/C] NM_012394 PFDN2 EXON Missense_N31S exm117171 1 161088668 [T/C] NM_001185092,NM_005600,NM_001185093,NM_001185094 NIT1,NIT1,NIT1,NIT1 EXON Missense_P32L,Missense_P32L,Silent,Silent exm117175 1 161088936 [A/G] NM_001185092,NM_005600,NM_001185093,NM_001185094 NIT1,NIT1,NIT1,NIT1 EXON Missense_M37I,Missense_M37I,Missense_M22I,Missense_M1I exm117182 1 161089340 [A/G] NM_001185092,NM_005600,NM_001185093,NM_001185094 NIT1,NIT1,NIT1,NIT1 EXON Missense_R132H,Missense_R132H,Missense_R117H,Missense_R96H exm117188 1 161089650 [A/G] NM_001185092,NM_005600,NM_001185093,NM_001185094 NIT1,NIT1,NIT1,NIT1 EXON Missense_V167I,Missense_V167I,Missense_V152I,Missense_V131I exm117190 1 161089669 [T/G] NM_001185092,NM_005600,NM_001185093,NM_001185094 NIT1,NIT1,NIT1,NIT1 EXON Missense_G173V,Missense_G173V,Missense_G158V,Missense_G137V exm117197 1 161089996 [A/T] NM_001185092,NM_005600,NM_001185093,NM_001185094 NIT1,NIT1,NIT1,NIT1 EXON Missense_S231T,Missense_S231T,Missense_S216T,Missense_S195T exm117198 1 161089997 [C/G] NM_001185092,NM_005600,NM_001185093,NM_001185094 NIT1,NIT1,NIT1,NIT1 EXON Missense_S231C,Missense_S231C,Missense_S216C,Missense_S195C exm117206 1 161090422 [A/G] NM_001185092,NM_005600,NM_001185093,NM_001185094 NIT1,NIT1,NIT1,NIT1 EXON Silent,Missense_R284H,Missense_R269H,Missense_R248H exm117209 1 161090467 [A/G] NM_001185092,NM_005600,NM_001185093,NM_001185094 NIT1,NIT1,NIT1,NIT1 EXON Silent,Missense_N299S,Missense_N284S,Missense_N263S exm117225 1 161093651 [G/C] NM_001185092,NM_001039711,NM_032998,NM_001039712 NIT1,DEDD,DEDD,DEDD EXON Silent,Missense_R137S,Missense_R137S,Missense_R137S exm117231 1 161094170 [T/C] NM_001185092,NM_001039711,NM_032998,NM_001039712 NIT1,DEDD,DEDD,DEDD EXON Silent,Missense_R28H,Missense_R28H,Missense_R28H exm117236 1 161094248 [A/G] NM_001185092,NM_001039711,NM_032998,NM_001039712 NIT1,DEDD,DEDD,DEDD EXON Silent,Missense_A2V,Missense_A2V,Missense_A2V exm117240 1 161123804 [T/C] NM_016406 UFC1 EXON Missense_T6M exm117249 1 161126806 [T/C] NM_016406 UFC1 EXON Missense_R64W exm117254 1 161127099 [A/G] NM_016406 UFC1 EXON Missense_E83K exm117255 1 161127107 [T/C] NM_016406 UFC1 EXON Synonymous_D85D exm117258 1 161127417 [T/C] NM_016406 UFC1 EXON Missense_T89I exm117272 1 161130453 [A/G] NM_001014443,NM_012475 USP21,USP21 EXON Missense_R8H,Missense_R8H exm1723913 1 161130579 [A/G] NM_001014443,NM_012475 USP21,USP21 EXON Missense_R50Q,Missense_R50Q exm117280 1 161130638 [T/C] NM_001014443,NM_012475 USP21,USP21 EXON Missense_R70W,Missense_R70W exm117300 1 161131024 [T/C] NM_001014443,NM_012475 USP21,USP21 EXON Synonymous_D198D,Synonymous_D198D exm2250073 1 161131024 [T/C] NM_001014443,NM_012475 USP21,USP21 EXON Synonymous_D198D,Synonymous_D198D exm117306 1 161132779 [T/C] NM_001014443,NM_012475 USP21,USP21 EXON Missense_R322C,Missense_R322C exm117311 1 161132827 [T/C] NM_001014443,NM_012475 USP21,USP21 EXON Missense_R338C,Missense_R338C exm117312 1 161133373 [A/G] NM_001014443,NM_012475 USP21,USP21 EXON Missense_K360E,Missense_K360E exm1723952 1 161136705 [A/G] NM_000309,NM_001122764 PPOX,PPOX EXON Missense_R23Q,Missense_R23Q exm117365 1 161138907 [T/G] NM_000309,NM_001122764 PPOX,PPOX EXON Missense_R247S,Missense_R247S exm117368 1 161138933 [G/C] NM_000309,NM_001122764 PPOX,PPOX EXON Missense_P256R,Missense_P256R exm117377 1 161139738 [A/G] NM_000309,NM_001122764 PPOX,PPOX EXON Missense_R304H,Missense_R304H exm117409 1 161141673 [T/C] NM_001199873,NM_001199874,NM_003779 B4GALT3,B4GALT3,B4GALT3 EXON Missense_R372H,Missense_R372H,Missense_R372H exm117411 1 161141691 [T/C] NM_001199873,NM_001199874,NM_003779 B4GALT3,B4GALT3,B4GALT3 EXON Missense_R366H,Missense_R366H,Missense_R366H exm117422 1 161143440 [T/C] NM_001199873,NM_001199874,NM_003779 B4GALT3,B4GALT3,B4GALT3 EXON Missense_N253S,Missense_N253S,Missense_N253S exm117424 1 161143685 [T/C] NM_001199873,NM_001199874,NM_003779 B4GALT3,B4GALT3,B4GALT3 EXON Missense_R215H,Missense_R215H,Missense_R215H exm117440 1 161144965 [T/C] NM_001199873,NM_001199874,NM_003779 B4GALT3,B4GALT3,B4GALT3 EXON Missense_E103K,Missense_E103K,Missense_E103K exm117444 1 161145627 [A/G] NM_001199873,NM_001199874,NM_003779 B4GALT3,B4GALT3,B4GALT3 EXON Missense_P75L,Missense_P75L,Missense_P75L exm2250074 1 161145653 [A/C] NM_001199873,NM_001199874,NM_003779 B4GALT3,B4GALT3,B4GALT3 EXON Synonymous_G66G,Synonymous_G66G,Synonymous_G66G exm117449 1 161145691 [T/C] NM_001199873,NM_001199874,NM_003779 B4GALT3,B4GALT3,B4GALT3 EXON Missense_V54I,Missense_V54I,Missense_V54I exm117465 1 161160956 [T/C] NM_005099 ADAMTS4 EXON Missense_R829Q exm117467 1 161160983 [T/C] NM_005099 ADAMTS4 EXON Missense_R820Q exm117469 1 161161016 [A/G] NM_005099 ADAMTS4 EXON Missense_T809M exm2231645 1 161161058 [T/C] NM_005099 ADAMTS4 EXON Missense_R795H exm117474 1 161161170 [T/C] NM_005099 ADAMTS4 EXON Missense_S758G exm117476 1 161161275 [G/C] NM_005099 ADAMTS4 EXON Missense_R723G exm117478 1 161161284 [G/C] NM_005099 ADAMTS4 EXON Missense_P720A exm2250075 1 161161351 [A/G] NM_005099 ADAMTS4 EXON Synonymous_Y697Y exm117489 1 161163004 [T/C] NM_005099 ADAMTS4 EXON Missense_R637Q exm117490 1 161163037 [T/C] NM_005099 ADAMTS4 EXON Missense_Q626R exm117491 1 161163038 [A/G] NM_005099 ADAMTS4 EXON Nonsense_Q626X exm117495 1 161163088 [T/C] NM_005099 ADAMTS4 EXON Missense_R609H exm117501 1 161163439 [T/C] NM_005099 ADAMTS4 EXON Missense_T576A exm117504 1 161163466 [A/G] NM_005099 ADAMTS4 EXON Missense_R567C exm117505 1 161163477 [T/C] NM_005099 ADAMTS4 EXON Missense_R563H exm117512 1 161163754 [A/G] NM_005099 ADAMTS4 EXON Missense_L507F exm117516 1 161163786 [G/C] NM_005099 ADAMTS4 EXON Missense_G496A exm1724023 1 161163879 [A/G] NM_005099 ADAMTS4 EXON Missense_P465L exm2250076 1 161163881 [T/C] NM_005099 ADAMTS4 EXON Synonymous_P464P exm117524 1 161163933 [A/C] NM_005099 ADAMTS4 EXON Missense_R447L exm117526 1 161165263 [T/C] NM_005099 ADAMTS4 EXON Missense_N418S exm117530 1 161165318 [G/C] NM_005099 ADAMTS4 EXON Missense_P400A exm117531 1 161165353 [T/C] NM_005099 ADAMTS4 EXON Missense_R388H exm117535 1 161165424 [A/G] NM_005099 ADAMTS4 EXON Synonymous_G364G exm117537 1 161166029 [A/G] NM_005099 ADAMTS4 EXON Missense_P341L exm117543 1 161166382 [C/G] NM_005099 ADAMTS4 EXON Missense_D308H exm117551 1 161166610 [T/C] NM_005099 ADAMTS4 EXON Missense_A232T exm117552 1 161166633 [A/G] NM_005099 ADAMTS4 EXON Missense_V224A exm117559 1 161167981 [T/C] NM_005099 ADAMTS4 EXON Missense_G146E exm1724040 1 161168074 [A/G] NM_005099 ADAMTS4 EXON Missense_A115V exm117564 1 161168105 [T/C] NM_005099 ADAMTS4 EXON Missense_E105K exm117565 1 161168120 [A/G] NM_005099 ADAMTS4 EXON Missense_S100P exm117566 1 161168135 [T/C] NM_005099 ADAMTS4 EXON Missense_E95K exm117567 1 161168147 [T/C] NM_005099 ADAMTS4 EXON Missense_T91A exm117569 1 161168167 [T/C] NM_005099 ADAMTS4 EXON Missense_R84H exm117571 1 161168188 [A/G] NM_005099 ADAMTS4 EXON Missense_A77V exm117572 1 161168189 [T/C] NM_005099 ADAMTS4 EXON Missense_A77T exm117573 1 161168191 [T/C] NM_005099 ADAMTS4 EXON Missense_G76D exm1724043 1 161168201 [G/C] NM_005099 ADAMTS4 EXON Missense_P73A exm117577 1 161168270 [A/G] NM_005099 ADAMTS4 EXON Missense_R50W exm117587 1 161172233 [A/C] NM_004550,NM_001166159 NDUFS2,NDUFS2 EXON Missense_P20T,Missense_P20T exm117628 1 161180389 [T/C] NM_004550,NM_001166159 NDUFS2,NDUFS2 EXON Missense_M292T,Missense_M292T exm117631 1 161180473 [T/C] NM_004550,NM_001166159 NDUFS2,NDUFS2 EXON Missense_V320A,Missense_V320A exm117633 1 161180482 [A/G] NM_004550,NM_001166159 NDUFS2,NDUFS2 EXON Missense_R323Q,Missense_R323Q exm117639 1 161183191 [C/G] NM_004550,NM_001166159 NDUFS2,NDUFS2 EXON Missense_H380D,Missense_H380D exm117641 1 161183265 [A/G] NM_004550,NM_001166159 NDUFS2,NDUFS2 EXON Synonymous_K404K,Synonymous_K404K exm117646 1 161183502 [T/G] NM_004550,NM_001166159 NDUFS2,NDUFS2 EXON Missense_A426S,Missense_A426S exm1724078 1 161183681 [T/C] NM_004550,NM_001166159 NDUFS2,NDUFS2 EXON Missense_H442Y,Missense_H442Y exm1724093 1 161187790 [A/C] NM_004106 FCER1G EXON Missense_P22T exm1724095 1 161187847 [T/C] NM_004106 FCER1G EXON Missense_L41F exm117689 1 161192772 [T/C] NM_001643 APOA2 EXON Missense_V41M exm117709 1 161197734 [A/C] NM_032174 TOMM40L EXON Missense_T147P exm117715 1 161198021 [T/G] NM_032174 TOMM40L EXON Missense_V177G exm117728 1 161198530 [T/C] NM_032174 TOMM40L EXON Missense_A237V exm117729 1 161198605 [C/G] NM_032174 TOMM40L EXON Missense_R262T exm117735 1 161199503 [A/G] NM_032174,NM_001077473,NM_001077474,NM_005122,NM_001077477,NM_001077482,NM_001077470,NM_001077472,NM_001077469,NM_001077475,NM_001077471,NM_001077481,NM_001077478,NM_001077480,NM_001077479,NM_001077476 TOMM40L,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3 EXON Silent,Missense_P306L,Missense_P287L,Silent,Missense_P297L,Silent,Silent,Silent,Missense_P331L,Missense_P258L,Silent,Silent,Missense_P330L,Silent,Silent,Missense_P302L exm117751 1 161200604 [A/G] NM_001077473,NM_001077474,NM_005122,NM_001077477,NM_001077482,NM_001077470,NM_001077472,NM_001077469,NM_001077475,NM_001077471,NM_001077481,NM_001077478,NM_001077480,NM_001077479,NM_001077476 NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3 EXON Missense_R286C,Missense_R267C,Missense_R306W,Missense_R277C,Missense_R315W,Missense_R238W,Missense_R282W,Missense_R311C,Missense_R238C,Missense_R267W,Missense_R272W,Missense_R310C,Missense_R310W,Missense_R277W,Missense_R282C exm117754 1 161200618 [T/C] NM_001077473,NM_001077474,NM_005122,NM_001077477,NM_001077482,NM_001077470,NM_001077472,NM_001077469,NM_001077475,NM_001077471,NM_001077481,NM_001077478,NM_001077480,NM_001077479,NM_001077476 NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3 EXON Missense_R281Q,Missense_R262Q,Missense_R301Q,Missense_R272Q,Missense_R310Q,Missense_R233Q,Missense_R277Q,Missense_R306Q,Missense_R233Q,Missense_R262Q,Missense_R267Q,Missense_R305Q,Missense_R305Q,Missense_R272Q,Missense_R277Q exm117757 1 161200707 [A/G] NM_001077473,NM_001077474,NM_005122,NM_001077477,NM_001077482,NM_001077470,NM_001077472,NM_001077469,NM_001077475,NM_001077471,NM_001077481,NM_001077478,NM_001077480,NM_001077479,NM_001077476 NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3 EXON Synonymous_D251D,Synonymous_D232D,Synonymous_D271D,Synonymous_D242D,Synonymous_D280D,Synonymous_D203D,Synonymous_D247D,Synonymous_D276D,Synonymous_D203D,Synonymous_D232D,Synonymous_D237D,Synonymous_D275D,Synonymous_D275D,Synonymous_D242D,Synonymous_D247D exm1724136 1 161200970 [A/G] NM_001077473,NM_001077474,NM_005122,NM_001077477,NM_001077482,NM_001077470,NM_001077472,NM_001077469,NM_001077475,NM_001077471,NM_001077481,NM_001077478,NM_001077480,NM_001077479,NM_001077476 NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3 EXON Nonsense_R225X,Silent,Nonsense_R250X,Nonsense_R221X,Nonsense_R254X,Silent,Nonsense_R221X,Nonsense_R250X,Silent,Silent,Silent,Nonsense_R254X,Nonsense_R254X,Nonsense_R221X,Nonsense_R221X exm117780 1 161203015 [C/G] NM_001077473,NM_001077474,NM_005122,NM_001077477,NM_001077482,NM_001077470,NM_001077472,NM_001077469,NM_001077475,NM_001077471,NM_001077481,NM_001077478,NM_001077480,NM_001077479,NM_001077476 NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3 EXON Missense_L89V,Missense_L118V,Missense_L118V,Missense_L89V,Missense_L118V,Missense_L89V,Missense_L89V,Missense_L118V,Missense_L89V,Missense_L118V,Missense_L118V,Missense_L118V,Missense_L118V,Missense_L89V,Missense_L89V exm117783 1 161203078 [A/G] NM_001077473,NM_001077474,NM_005122,NM_001077477,NM_001077482,NM_001077470,NM_001077472,NM_001077469,NM_001077475,NM_001077471,NM_001077481,NM_001077478,NM_001077480,NM_001077479,NM_001077476 NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3 EXON Missense_R68W,Missense_R97W,Missense_R97W,Missense_R68W,Missense_R97W,Missense_R68W,Missense_R68W,Missense_R97W,Missense_R68W,Missense_R97W,Missense_R97W,Missense_R97W,Missense_R97W,Missense_R68W,Missense_R68W exm117792 1 161205693 [T/C] NM_001077473,NM_001077474,NM_005122,NM_001077477,NM_001077482,NM_001077470,NM_001077472,NM_001077469,NM_001077475,NM_001077471,NM_001077481,NM_001077478,NM_001077480,NM_001077479,NM_001077476 NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3 EXON Missense_R32H,Missense_R61H,Missense_R61H,Missense_R32H,Missense_R61H,Missense_R32H,Missense_R32H,Missense_R61H,Missense_R32H,Missense_R61H,Missense_R61H,Missense_R61H,Missense_R61H,Missense_R32H,Missense_R32H exm117803 1 161207840 [T/C] NM_001077473,NM_001077474,NM_005122,NM_001077477,NM_001077482,NM_001077470,NM_001077472,NM_001077469,NM_001077475,NM_001077471,NM_001077481,NM_001077478,NM_001077480,NM_001077479,NM_001077476 NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3 EXON Missense_K4R,Silent,Silent,Missense_K4R,Silent,Missense_K4R,Missense_K4R,Silent,Missense_K4R,Silent,Silent,Silent,Silent,Missense_K4R,Missense_K4R exm2268772 1 161210729 [T/C] exm117813 1 161254246 [A/G] NM_001102566 PCP4L1 EXON Missense_K61R exm-rs11265582 1 161255333 [T/C] exm117820 1 161275906 [G/C] NM_000530 MPZ EXON Missense_G213R exm117836 1 161277149 [A/G] NM_000530 MPZ EXON Missense_R45W exm117883 1 161334880 [A/G] NM_001013625 C1orf192 EXON Nonsense_Q137X exm1724255 1 161335344 [T/C] NM_001013625 C1orf192 EXON Missense_N107S exm117887 1 161335431 [T/C] NM_001013625 C1orf192 EXON Missense_R78Q exm117889 1 161335470 [T/A] NM_001013625 C1orf192 EXON Missense_M65K exm2250080 1 161336235 [T/C] NM_001013625 C1orf192 EXON Synonymous_T28T exm117899 1 161337631 [A/C] NM_001013625 C1orf192 Silent exm-rs10800309 1 161472158 [A/G] exm117915 1 161476205 [A/G] NM_001136219,NM_021642 FCGR2A,FCGR2A EXON Missense_Q63R,Missense_Q62R exm117930 1 161479708 [A/G] NM_001136219,NM_021642 FCGR2A,FCGR2A EXON Missense_T155A,Missense_T154A exm117932 1 161479732 [A/C] NM_001136219,NM_021642 FCGR2A,FCGR2A EXON Missense_Q163K,Missense_Q162K exm117933 1 161479745 [A/G] NM_001136219,NM_021642 FCGR2A,FCGR2A EXON Missense_H167R,Missense_H166R exm118023 1 161495463 [A/G] NM_002155 HSPA6 EXON Missense_V339M exm118026 1 161495470 [A/G] NM_002155 HSPA6 EXON Missense_G341D exm118028 1 161495497 [A/G] NM_002155 HSPA6 EXON Missense_K350R exm118068 1 161512848 [T/C] NM_001127596,NM_001127592,NM_001127593,NM_001127595,NM_000569 FCGR3A,FCGR3A,FCGR3A,FCGR3A,FCGR3A EXON Nonsense_W239X,Nonsense_W275X,Nonsense_W240X,Nonsense_W240X,Nonsense_W276X exm118082 1 161514566 [T/C] NM_001127596,NM_001127592,NM_001127593,NM_001127595,NM_000569 FCGR3A,FCGR3A,FCGR3A,FCGR3A,FCGR3A EXON Missense_G167S,Missense_G203S,Missense_G168S,Missense_G168S,Missense_G204S exm118116 1 161518437 [G/C] NM_001127596,NM_001127592,NM_001127593,NM_001127595,NM_000569 FCGR3A,FCGR3A,FCGR3A,FCGR3A,FCGR3A EXON Missense_E30D,Missense_E66D,Missense_E31D,Missense_E31D,Missense_E67D exm2250085 1 161519554 [T/C] NM_001127596,NM_001127592,NM_001127593,NM_001127595,NM_000569 FCGR3A,FCGR3A,FCGR3A,FCGR3A,FCGR3A EXON Silent,Synonymous_L27L,Silent,Silent,Synonymous_L27L exm2231671 1 161596027 [T/G] NM_001271036,NM_001271035,NM_001244753,NM_000570,NM_001271037 FCGR3B,FCGR3B,FCGR3B,FCGR3B,FCGR3B EXON Missense_A145D,Missense_A197D,Missense_A198D,Missense_A162D,Silent exm118209 1 161596168 [T/C] NM_001271036,NM_001271035,NM_001244753,NM_000570,NM_001271037 FCGR3B,FCGR3B,FCGR3B,FCGR3B,FCGR3B EXON Missense_R98Q,Missense_R150Q,Missense_R151Q,Missense_R115Q,Silent exm118256 1 161641187 [T/C] NM_001190828,NM_001002273,NM_001002275,NM_001002274,NM_004001 FCGR2B,FCGR2B,FCGR2B,FCGR2B,FCGR2B EXON Missense_P40S,Missense_P46S,Missense_P46S,Missense_P47S,Missense_P47S exm118303 1 161647148 [A/G] NM_001190828,NM_001002273,NM_001002275,NM_001002274,NM_004001 FCGR2B,FCGR2B,FCGR2B,FCGR2B,FCGR2B EXON Missense_K276R,Missense_K263R,Missense_K282R,Missense_K264R,Missense_K283R exm118304 1 161647270 [A/C] NM_001190828,NM_001002273,NM_001002275,NM_001002274,NM_004001 FCGR2B,FCGR2B,FCGR2B,FCGR2B,FCGR2B EXON Missense_E280A,Missense_E267A,Missense_E286A,Missense_E268A,Missense_E287A exm118314 1 161677004 [T/A] NM_001184872,NM_001184870,NM_001184871,NM_032738,NM_001184867,NM_001184873,NM_001184866 FCRLA,FCRLA,FCRLA,FCRLA,FCRLA,FCRLA,FCRLA EXON Missense_M1L,Missense_M1L,Missense_M1L,Missense_M1L,Missense_M1L,Missense_M1L,Missense_M1L exm118319 1 161677073 [T/C] NM_001184872,NM_001184870,NM_001184871,NM_032738,NM_001184867,NM_001184873,NM_001184866 FCRLA,FCRLA,FCRLA,FCRLA,FCRLA,FCRLA,FCRLA EXON Missense_L24F,Missense_L24F,Missense_L24F,Missense_L24F,Missense_L24F,Missense_L24F,Missense_L24F exm118327 1 161680583 [G/C] NM_001184872,NM_001184870,NM_001184871,NM_032738,NM_001184867,NM_001184873,NM_001184866 FCRLA,FCRLA,FCRLA,FCRLA,FCRLA,FCRLA,FCRLA EXON Silent,Silent,Silent,Missense_P55R,Missense_P55R,Missense_P55R,Missense_P61R exm118332 1 161681040 [A/G] NM_001184872,NM_001184870,NM_001184871,NM_032738,NM_001184867,NM_001184873,NM_001184866 FCRLA,FCRLA,FCRLA,FCRLA,FCRLA,FCRLA,FCRLA EXON Silent,Silent,Silent,Missense_G109E,Silent,Silent,Missense_G115E exm118335 1 161681082 [T/C] NM_001184872,NM_001184870,NM_001184871,NM_032738,NM_001184867,NM_001184873,NM_001184866 FCRLA,FCRLA,FCRLA,FCRLA,FCRLA,FCRLA,FCRLA EXON Silent,Silent,Silent,Missense_P123L,Silent,Silent,Missense_P129L exm118336 1 161681087 [A/G] NM_001184872,NM_001184870,NM_001184871,NM_032738,NM_001184867,NM_001184873,NM_001184866 FCRLA,FCRLA,FCRLA,FCRLA,FCRLA,FCRLA,FCRLA EXON Silent,Silent,Silent,Missense_T125A,Silent,Silent,Missense_T131A exm118350 1 161681237 [A/G] NM_001184872,NM_001184870,NM_001184871,NM_032738,NM_001184867,NM_001184873,NM_001184866 FCRLA,FCRLA,FCRLA,FCRLA,FCRLA,FCRLA,FCRLA EXON Silent,Silent,Silent,Missense_A175T,Silent,Silent,Missense_A181T exm118351 1 161681238 [A/C] NM_001184872,NM_001184870,NM_001184871,NM_032738,NM_001184867,NM_001184873,NM_001184866 FCRLA,FCRLA,FCRLA,FCRLA,FCRLA,FCRLA,FCRLA EXON Silent,Silent,Silent,Missense_A175E,Silent,Silent,Missense_A181E exm118357 1 161681736 [T/C] NM_001184872,NM_001184870,NM_001184871,NM_032738,NM_001184867,NM_001184873,NM_001184866 FCRLA,FCRLA,FCRLA,FCRLA,FCRLA,FCRLA,FCRLA EXON Missense_A48V,Missense_A54V,Silent,Missense_A188V,Missense_A99V,Silent,Missense_A194V exm118361 1 161681753 [G/C] NM_001184872,NM_001184870,NM_001184871,NM_032738,NM_001184867,NM_001184873,NM_001184866 FCRLA,FCRLA,FCRLA,FCRLA,FCRLA,FCRLA,FCRLA EXON Missense_V54L,Missense_V60L,Silent,Missense_V194L,Missense_V105L,Silent,Missense_V200L exm118362 1 161681780 [A/G] NM_001184872,NM_001184870,NM_001184871,NM_032738,NM_001184867,NM_001184873,NM_001184866 FCRLA,FCRLA,FCRLA,FCRLA,FCRLA,FCRLA,FCRLA EXON Missense_S63G,Missense_S69G,Silent,Missense_S203G,Missense_S114G,Silent,Missense_S209G exm118366 1 161681869 [A/G] NM_001184872,NM_001184870,NM_001184871,NM_032738,NM_001184867,NM_001184873,NM_001184866 FCRLA,FCRLA,FCRLA,FCRLA,FCRLA,FCRLA,FCRLA EXON Missense_I92M,Missense_I98M,Silent,Missense_I232M,Missense_I143M,Silent,Missense_I238M exm118367 1 161681870 [A/G] NM_001184872,NM_001184870,NM_001184871,NM_032738,NM_001184867,NM_001184873,NM_001184866 FCRLA,FCRLA,FCRLA,FCRLA,FCRLA,FCRLA,FCRLA EXON Missense_V93M,Missense_V99M,Silent,Missense_V233M,Missense_V144M,Silent,Missense_V239M exm118372 1 161681930 [A/G] NM_001184872,NM_001184870,NM_001184871,NM_032738,NM_001184867,NM_001184873,NM_001184866 FCRLA,FCRLA,FCRLA,FCRLA,FCRLA,FCRLA,FCRLA EXON Missense_G113R,Missense_G119R,Silent,Missense_G253R,Missense_G164R,Silent,Missense_G259R exm118386 1 161682992 [T/C] NM_001184872,NM_001184870,NM_001184871,NM_032738,NM_001184867,NM_001184873,NM_001184866 FCRLA,FCRLA,FCRLA,FCRLA,FCRLA,FCRLA,FCRLA EXON Missense_S178F,Missense_S184F,Missense_S83F,Missense_S318F,Missense_S229F,Missense_S134F,Missense_S324F exm118387 1 161683055 [A/G] NM_001184872,NM_001184870,NM_001184871,NM_032738,NM_001184867,NM_001184873,NM_001184866 FCRLA,FCRLA,FCRLA,FCRLA,FCRLA,FCRLA,FCRLA EXON Missense_G199D,Missense_G205D,Missense_G104D,Missense_G339D,Missense_G250D,Missense_G155D,Missense_G345D exm118389 1 161683096 [A/G] NM_001184872,NM_001184870,NM_001184871,NM_032738,NM_001184867,NM_001184873,NM_001184866 FCRLA,FCRLA,FCRLA,FCRLA,FCRLA,FCRLA,FCRLA EXON Missense_G213S,Missense_G219S,Missense_G118S,Missense_G353S,Missense_G264S,Missense_G169S,Missense_G359S exm118394 1 161692468 [C/G] NM_001002901 FCRLB EXON Missense_W2C exm118403 1 161693199 [T/C] NM_001002901 FCRLB EXON Missense_T32I exm118409 1 161693280 [T/C] NM_001002901 FCRLB EXON Missense_T59I exm118416 1 161693340 [T/C] NM_001002901 FCRLB EXON Missense_T79I exm118417 1 161693366 [T/C] NM_001002901 FCRLB EXON Missense_R88W exm118419 1 161693378 [A/G] NM_001002901 FCRLB EXON Missense_V92I exm118431 1 161695779 [A/G] NM_001002901 FCRLB EXON Missense_R159H exm118438 1 161696648 [T/C] NM_001002901 FCRLB EXON Missense_R244C exm118439 1 161696663 [A/G] NM_001002901 FCRLB EXON Missense_G249S exm118446 1 161697072 [C/G] NM_001002901 FCRLB EXON Missense_A301P exm118456 1 161697319 [A/G] NM_001002901 FCRLB EXON Missense_G383D exm118457 1 161697361 [A/C] NM_001002901 FCRLB EXON Missense_A397D exm118458 1 161697382 [T/C] NM_001002901 FCRLB EXON Missense_T404M exm118459 1 161697418 [G/C] NM_001002901 FCRLB EXON Missense_P416R exm118460 1 161697451 [C/G] NM_001002901 FCRLB EXON Missense_X427S exm2259829 1 161701810 [A/G] exm118469 1 161719736 [A/T] NM_007240 DUSP12 EXON Missense_R49W exm118472 1 161719775 [A/G] NM_007240 DUSP12 EXON Missense_E62K exm118477 1 161719821 [A/G] NM_007240 DUSP12 EXON Missense_R77H exm118492 1 161721697 [T/C] NM_007240 DUSP12 EXON Missense_A167V exm118496 1 161721771 [C/G] NM_007240 DUSP12 EXON Missense_P192A exm118508 1 161723013 [A/T] NM_007240 DUSP12 EXON Missense_W275R exm118513 1 161726654 [A/G] NM_007240 DUSP12 EXON Missense_T314A exm2231674 1 161726951 [G/C] NM_007240 DUSP12 EXON Silent exm118517 1 161736167 [T/G] NM_007348 ATF6 EXON Missense_G6V exm118519 1 161736197 [T/G] NM_007348 ATF6 EXON Missense_S16I exm118521 1 161736209 [T/C] NM_007348 ATF6 EXON Missense_F20S exm118528 1 161748100 [A/G] NM_007348 ATF6 EXON Missense_N50S exm118532 1 161751741 [A/G] NM_007348 ATF6 EXON Missense_M67V exm118537 1 161753840 [T/C] NM_007348 ATF6 EXON Missense_S103L exm118550 1 161761276 [C/G] NM_007348 ATF6 EXON Missense_A145P exm118551 1 161761312 [T/C] NM_007348 ATF6 EXON Missense_P157S exm118559 1 161771868 [A/G] NM_007348 ATF6 EXON Missense_T239A exm118560 1 161771895 [A/G] NM_007348 ATF6 EXON Missense_V248I exm118563 1 161771986 [T/C] NM_007348 ATF6 EXON Missense_A278V exm118568 1 161772054 [A/G] NM_007348 ATF6 EXON Missense_G301S exm-rs7530997 1 161810151 [A/G] NM_007348 ATF6 Silent exm118585 1 161816280 [A/G] NM_007348 ATF6 EXON Missense_S410N exm118604 1 161830057 [A/G] NM_007348 ATF6 EXON Missense_S532G exm-rs10918270 1 161915501 [A/G] NM_007348 ATF6 Silent exm1724880 1 161928391 [A/G] NM_007348 ATF6 EXON Missense_A654T exm2250089 1 161953624 [A/G] NM_015441 OLFML2B EXON Synonymous_Y698Y exm118631 1 161953665 [A/C] NM_015441 OLFML2B EXON Missense_A685S exm118638 1 161953763 [T/C] NM_015441 OLFML2B EXON Missense_N652S exm1724887 1 161953913 [T/C] NM_015441 OLFML2B EXON Missense_H602R exm118651 1 161954040 [A/G] NM_015441 OLFML2B EXON Missense_P560S exm118658 1 161954710 [T/C] NM_015441 OLFML2B EXON Missense_R512Q exm118671 1 161967722 [A/G] NM_015441 OLFML2B EXON Missense_T456I exm118673 1 161967856 [A/C] NM_015441 OLFML2B EXON Missense_Q411H exm118674 1 161967881 [A/T] NM_015441 OLFML2B EXON Missense_D403V exm118678 1 161967937 [C/G] NM_015441 OLFML2B EXON Missense_S384R exm118679 1 161967953 [A/G] NM_015441 OLFML2B EXON Missense_S379L exm118680 1 161967974 [T/G] NM_015441 OLFML2B EXON Missense_S372Y exm118682 1 161967990 [A/G] NM_015441 OLFML2B EXON Missense_R367W exm118688 1 161968049 [T/C] NM_015441 OLFML2B EXON Missense_R347Q exm118694 1 161969936 [A/C] NM_015441 OLFML2B EXON Missense_V306F exm118696 1 161969986 [A/G] NM_015441 OLFML2B EXON Missense_P289L exm118700 1 161970046 [A/G] NM_015441 OLFML2B EXON Missense_L269P exm1724922 1 161976095 [A/G] NM_015441 OLFML2B EXON Missense_H239Y exm118710 1 161976134 [A/G] NM_015441 OLFML2B EXON Missense_R226C exm118711 1 161976172 [T/C] NM_015441 OLFML2B EXON Missense_N213S exm118712 1 161976185 [A/G] NM_015441 OLFML2B EXON Nonsense_R209X exm2268943 1 161983089 [T/C] NM_015441 OLFML2B Silent exm118723 1 161987190 [G/C] NM_015441 OLFML2B EXON Missense_E182D exm118726 1 161987215 [A/C] NM_015441 OLFML2B EXON Missense_V174G exm118731 1 161987291 [T/C] NM_015441 OLFML2B EXON Missense_T149A exm118738 1 161989809 [A/G] NM_015441 OLFML2B EXON Missense_S113L exm118745 1 161989891 [A/G] NM_015441 OLFML2B EXON Missense_R86W exm118753 1 161993187 [A/C] NM_015441 OLFML2B EXON Missense_A12S exm118754 1 161993192 [T/C] NM_015441 OLFML2B EXON Missense_Y10C exm-rs2880058 1 162014632 [A/G] exm-rs12143842 1 162033890 [T/C] exm-rs1415259 1 162085309 [T/C] NM_014697,NM_001164757 NOS1AP,NOS1AP Silent,Silent exm-rs10494366 1 162085685 [T/G] NM_014697,NM_001164757 NOS1AP,NOS1AP Silent,Silent exm-rs16857031 1 162112910 [C/G] NM_014697,NM_001164757 NOS1AP,NOS1AP Silent,Silent exm-rs12029454 1 162133117 [A/G] NM_014697,NM_001164757 NOS1AP,NOS1AP Silent,Silent exm2264911 1 162168116 [A/G] NM_014697,NM_001164757 NOS1AP,NOS1AP Silent,Silent exm-rs4657178 1 162210610 [T/C] NM_014697,NM_001164757 NOS1AP,NOS1AP Silent,Silent exm118761 1 162270463 [A/G] NM_014697,NM_001164757 NOS1AP,NOS1AP EXON Missense_S104N,Missense_S99N exm2250095 1 162302846 [T/C] NM_014697,NM_001164757 NOS1AP,NOS1AP EXON Synonymous_I128I,Synonymous_I123I exm2231677 1 162326804 [T/G] NM_014697,NM_001164757 NOS1AP,NOS1AP EXON Missense_S273A,Missense_S268A exm118790 1 162326843 [T/C] NM_014697,NM_001164757 NOS1AP,NOS1AP EXON Missense_P286S,Missense_P281S exm118810 1 162336953 [T/C] NM_014697,NM_001164757,NM_001126060 NOS1AP,NOS1AP,NOS1AP EXON Missense_A406V,Missense_A401V,Missense_A111V exm118825 1 162343861 [T/C] NM_182581 C1orf111 EXON Missense_G255S exm118835 1 162343974 [T/C] NM_182581 C1orf111 EXON Missense_R217H exm118852 1 162344205 [A/G] NM_182581 C1orf111 EXON Missense_S140L exm118863 1 162344365 [A/G] NM_182581 C1orf111 EXON Missense_R87W exm118869 1 162345091 [A/G] NM_182581 C1orf111 EXON Missense_A69V exm118870 1 162345121 [A/G] NM_182581 C1orf111 EXON Missense_I59T exm118872 1 162345160 [G/C] NM_182581 C1orf111 EXON Missense_S46C exm118879 1 162346529 [T/C] NM_182581 C1orf111 EXON Missense_A18T exm118881 1 162346559 [T/C] NM_182581 C1orf111 EXON Missense_S8G exm118885 1 162351708 [A/G] NM_001135240,NM_001085375 C1orf226,C1orf226 EXON Missense_N49S,Missense_N6S exm118887 1 162351741 [A/G] NM_001135240,NM_001085375 C1orf226,C1orf226 EXON Missense_R60H,Missense_R17H exm118888 1 162351752 [A/C] NM_001135240,NM_001085375 C1orf226,C1orf226 EXON Missense_H64N,Missense_H21N exm118899 1 162353144 [C/G] NM_001135240,NM_001085375 C1orf226,C1orf226 EXON Missense_P207A,Missense_P164A exm118905 1 162353319 [C/G] NM_001135240,NM_001085375 C1orf226,C1orf226 EXON Missense_S265C,Missense_S222C exm118923 1 162367103 [T/G] NM_053282 SH2D1B EXON Missense_N122K exm118927 1 162368747 [T/C] NM_053282 SH2D1B EXON Nonsense_W110X exm118937 1 162381672 [T/C] NM_053282 SH2D1B Silent exm118939 1 162381700 [A/G] NM_053282 SH2D1B EXON Missense_I36T exm118952 1 162467843 [T/C] NM_001184763,NM_144624,NM_175866 UHMK1,UHMK1,UHMK1 EXON Silent,Missense_A18V,Missense_A18V exm118962 1 162468040 [G/C] NM_001184763,NM_144624,NM_175866 UHMK1,UHMK1,UHMK1 EXON Silent,Missense_Q84E,Missense_Q84E exm118966 1 162469853 [A/G] NM_001184763,NM_144624,NM_175866 UHMK1,UHMK1,UHMK1 EXON Missense_S52N,Missense_S126N,Missense_S126N exm118967 1 162469861 [G/C] NM_001184763,NM_144624,NM_175866 UHMK1,UHMK1,UHMK1 EXON Missense_G55R,Missense_G129R,Missense_G129R exm118987 1 162482366 [C/G] NM_001184763,NM_144624,NM_175866 UHMK1,UHMK1,UHMK1 EXON Missense_A235P,Missense_A309P,Missense_A309P exm118996 1 162487906 [T/G] NM_001184763,NM_144624,NM_175866 UHMK1,UHMK1,UHMK1 EXON Missense_V273L,Silent,Missense_V347L exm119000 1 162492285 [A/C] NM_001184763,NM_144624,NM_175866 UHMK1,UHMK1,UHMK1 EXON Missense_T328K,Silent,Missense_T402K exm119009 1 162535958 [T/C] NM_003115 UAP1 EXON Missense_Y34H exm1725823 1 162551137 [A/G] NM_003115 UAP1 EXON Missense_Q241R exm119023 1 162557358 [G/C] NM_003115 UAP1 EXON Missense_A310P exm119030 1 162557457 [A/G] NM_003115 UAP1 EXON Missense_N343D exm119035 1 162560114 [A/C] NM_003115 UAP1 EXON Missense_K391Q exm119044 1 162560282 [T/C] NM_003115 UAP1 EXON Missense_R447C exm119050 1 162569077 [T/C] NM_003115 UAP1 EXON Missense_V481A exm2231683 1 162569107 [A/T] NM_003115 UAP1 EXON Missense_I491N exm119064 1 162724415 [G/C] NM_006182,NM_001014796 DDR2,DDR2 EXON Missense_L63V,Missense_L63V exm119079 1 162725022 [A/G] NM_006182,NM_001014796 DDR2,DDR2 EXON Missense_R165Q,Missense_R165Q exm119080 1 162725036 [A/T] NM_006182,NM_001014796 DDR2,DDR2 EXON Missense_T170S,Missense_T170S exm119082 1 162725040 [A/G] NM_006182,NM_001014796 DDR2,DDR2 EXON Missense_D171G,Missense_D171G exm119083 1 162725046 [C/G] NM_006182,NM_001014796 DDR2,DDR2 EXON Missense_S173C,Missense_S173C exm1726161 1 162731077 [A/G] NM_006182,NM_001014796 DDR2,DDR2 EXON Missense_S311N,Missense_S311N exm119096 1 162731124 [A/G] NM_006182,NM_001014796 DDR2,DDR2 EXON Missense_V327I,Missense_V327I exm119114 1 162740121 [A/G] NM_006182,NM_001014796 DDR2,DDR2 EXON Missense_M441I,Missense_M441I exm119117 1 162740180 [T/C] NM_006182,NM_001014796 DDR2,DDR2 EXON Missense_S461L,Missense_S461L exm119120 1 162740230 [T/C] NM_006182,NM_001014796 DDR2,DDR2 EXON Missense_R478C,Missense_R478C exm119130 1 162741822 [A/G] NM_006182,NM_001014796 DDR2,DDR2 EXON Missense_G505S,Missense_G505S exm119146 1 162745952 [A/C] NM_006182,NM_001014796 DDR2,DDR2 EXON Missense_T692N,Missense_T692N exm119174 1 162760622 [C/G] NM_016371 HSD17B7 EXON Missense_S11T exm2231693 1 162766381 [T/G] NM_016371 HSD17B7 EXON Missense_Q82H exm119202 1 162773300 [T/C] NM_016371 HSD17B7 EXON Missense_T241M exm2268773 1 162781787 [T/C] NM_016371 HSD17B7 Silent exm119214 1 162824562 [A/G] NM_178550 C1orf110 EXON Missense_P301L exm119223 1 162824773 [A/T] NM_178550 C1orf110 EXON Missense_M231L exm119231 1 162824862 [A/C] NM_178550 C1orf110 EXON Missense_S201I exm119232 1 162824872 [T/C] NM_178550 C1orf110 EXON Missense_A198T exm119234 1 162824944 [G/C] NM_178550 C1orf110 EXON Missense_G174R exm119238 1 162825004 [A/G] NM_178550 C1orf110 EXON Nonsense_Q154X exm119247 1 162825457 [A/C] NM_178550 C1orf110 EXON Missense_R93S exm119253 1 162829327 [A/T] NM_178550 C1orf110 EXON Missense_V37D exm1726289 1 162829449 [A/C] NM_178550 C1orf110 Silent exm2250111 1 163035531 [A/C] exm119284 1 163044301 [T/G] NM_001102445,NM_005613,NM_001113381,NM_001113380 RGS4,RGS4,RGS4,RGS4 EXON Missense_G287V,Missense_G190V,Silent,Missense_G172V exm2259832 1 163115321 [A/G] NM_001254749,NM_003617,NM_001254748,NM_001195303 RGS5,RGS5,RGS5,RGS5 EXON Silent,Silent,Silent,Silent exm119288 1 163117163 [T/C] NM_001254749,NM_003617,NM_001254748,NM_001195303 RGS5,RGS5,RGS5,RGS5 EXON Missense_R176H,Missense_R172H,Missense_R64H,Missense_R64H exm1726411 1 163117173 [A/G] NM_001254749,NM_003617,NM_001254748,NM_001195303 RGS5,RGS5,RGS5,RGS5 EXON Missense_R173C,Missense_R169C,Missense_R61C,Missense_R61C exm119297 1 163122448 [C/G] NM_001254749,NM_003617,NM_001254748,NM_001195303 RGS5,RGS5,RGS5,RGS5 EXON Missense_E92D,Missense_E92D,Silent,Silent exm119308 1 163138082 [T/G] NM_001254749,NM_003617,NM_001254748,NM_001195303 RGS5,RGS5,RGS5,RGS5 EXON Missense_N41H,Missense_N41H,Silent,Silent exm119327 1 163298037 [T/C] NM_145697,NM_031423 NUF2,NUF2 EXON Missense_V73A,Missense_V73A exm119334 1 163306550 [A/G] NM_145697,NM_031423 NUF2,NUF2 EXON Missense_R116Q,Missense_R116Q exm119341 1 163306638 [T/C] NM_145697,NM_031423 NUF2,NUF2 EXON Synonymous_Y145Y,Synonymous_Y145Y exm119346 1 163307846 [A/G] NM_145697,NM_031423 NUF2,NUF2 EXON Missense_A158T,Missense_A158T exm119356 1 163309266 [T/C] NM_145697,NM_031423 NUF2,NUF2 EXON Missense_T202M,Missense_T202M exm119362 1 163313539 [T/C] NM_145697,NM_031423 NUF2,NUF2 EXON Missense_S229L,Missense_S229L exm119365 1 163313568 [A/C] NM_145697,NM_031423 NUF2,NUF2 EXON Missense_S239R,Missense_S239R exm119368 1 163313635 [A/C] NM_145697,NM_031423 NUF2,NUF2 EXON Missense_T261K,Missense_T261K exm119375 1 163317715 [T/C] NM_145697,NM_031423 NUF2,NUF2 EXON Missense_R371C,Missense_R371C exm119377 1 163318779 [A/G] NM_145697,NM_031423 NUF2,NUF2 EXON Missense_R390Q,Missense_R390Q exm119386 1 163325170 [A/G] NM_145697,NM_031423 NUF2,NUF2 EXON Missense_G436S,Missense_G436S exm2265052 1 163538248 [A/G] exm2268774 1 163781066 [T/C] exm2250122 1 163948373 [A/C] exm119393 1 164529120 [A/G] NM_002585,NM_001204963,NM_001204961 PBX1,PBX1,PBX1 EXON Missense_G21S,Missense_G21S,Missense_G21S exm119401 1 164532475 [A/G] NM_002585,NM_001204963,NM_001204961 PBX1,PBX1,PBX1 EXON Synonymous_R64R,Synonymous_R64R,Synonymous_R64R exm2268775 1 164684858 [T/C] NM_002585,NM_001204963,NM_001204961 PBX1,PBX1,PBX1 Silent,Silent,Silent exm2259837 1 164733504 [A/G] NM_002585,NM_001204963,NM_001204961 PBX1,PBX1,PBX1 Silent,Silent,Silent exm-rs6670655 1 164739171 [T/C] NM_002585,NM_001204963,NM_001204961,NR_038072 PBX1,PBX1,PBX1,LOC100505795 EXON Silent,Silent,Silent,Silent exm2268776 1 164883887 [T/C] exm2259838 1 164995713 [A/G] exm-rs723821 1 165016712 [A/C] exm119427 1 165173169 [T/C] NM_001174069,NM_177398 LMX1A,LMX1A EXON Missense_G366E,Missense_G366E exm119436 1 165173272 [T/C] NM_001174069,NM_177398 LMX1A,LMX1A EXON Missense_E332K,Missense_E332K exm119438 1 165175104 [A/G] NM_001174069,NM_177398 LMX1A,LMX1A EXON Missense_Y329H,Missense_Y329H exm119445 1 165175206 [T/G] NM_001174069,NM_177398 LMX1A,LMX1A EXON Missense_T295P,Missense_T295P exm-rs1532815 1 165180089 [T/A] NM_001174069,NM_177398 LMX1A,LMX1A Silent,Silent exm119458 1 165182976 [T/C] NM_001174069,NM_177398 LMX1A,LMX1A EXON Missense_D191N,Missense_D191N exm119471 1 165322317 [C/G] NM_001174069,NM_177398 LMX1A,LMX1A EXON Missense_E87Q,Missense_E87Q exm119474 1 165322457 [T/C] NM_001174069,NM_177398 LMX1A,LMX1A EXON Missense_R40Q,Missense_R40Q exm119479 1 165324786 [C/G] NM_001174069,NM_177398 LMX1A,LMX1A EXON Missense_G4A,Missense_G4A exm119508 1 165380233 [T/C] NM_001256571,NM_001256570,NM_006917 RXRG,RXRG,RXRG EXON Missense_V123I,Missense_V123I,Missense_V246I exm119522 1 165389155 [T/C] NM_001256571,NM_001256570,NM_006917 RXRG,RXRG,RXRG EXON Missense_G9R,Missense_G9R,Missense_G132R exm-rs466639 1 165394882 [T/C] NM_001256570,NM_006917 RXRG,RXRG Silent,Silent exm-rs285480 1 165403903 [A/G] NM_001256570,NM_006917 RXRG,RXRG Silent,Silent exm-rs10800098 1 165409095 [A/G] NM_001256570,NM_006917,NR_033824 RXRG,RXRG,RXRG Silent,Silent,Silent exm-rs4657449 1 165465281 [A/G] NR_026744 LOC400794 Silent exm2264912 1 165492327 [A/G] NR_026744 LOC400794 Silent exm119569 1 165513849 [T/C] NR_026744,NM_001005214 LOC400794,LRRC52 EXON Silent,Missense_L106F exm1729591 1 165513898 [T/C] NR_026744,NM_001005214 LOC400794,LRRC52 EXON Silent,Missense_S122L exm119574 1 165513935 [C/G] NR_026744,NM_001005214 LOC400794,LRRC52 EXON Silent,Missense_N134K exm119589 1 165532817 [A/G] NR_026744,NM_001005214 LOC400794,LRRC52 EXON Silent,Missense_R233Q exm119597 1 165532948 [T/C] NR_026744,NM_001005214 LOC400794,LRRC52 EXON Silent,Missense_R277C exm119598 1 165532984 [A/G] NR_026744,NM_001005214 LOC400794,LRRC52 EXON Silent,Missense_G289R exm1729601 1 165533009 [A/G] NR_026744,NM_001005214 LOC400794,LRRC52 EXON Silent,Missense_R297Q exm119601 1 165533023 [A/C] NR_026744,NM_001005214 LOC400794,LRRC52 EXON Silent,Missense_Q302K exm119603 1 165533033 [T/C] NR_026744,NM_001005214 LOC400794,LRRC52 EXON Silent,Missense_S305L exm119609 1 165619079 [T/C] NM_004528 MGST3 EXON Silent exm119611 1 165620270 [T/C] NM_004528 MGST3 EXON Missense_T46M exm119620 1 165621265 [A/C] NM_004528 MGST3 EXON Missense_Y81S exm119621 1 165621267 [T/C] NM_004528 MGST3 EXON Missense_H82Y exm119633 1 165624698 [C/G] NM_004528 MGST3 EXON Missense_W139S exm119642 1 165632360 [T/C] NM_000696 ALDH9A1 EXON Missense_R495H exm119648 1 165634302 [T/C] NM_000696 ALDH9A1 EXON Missense_Y472C exm119650 1 165634336 [T/C] NM_000696 ALDH9A1 EXON Missense_E461K exm119657 1 165638192 [T/C] NM_000696 ALDH9A1 EXON Missense_D393G exm2231725 1 165638229 [T/C] NM_000696 ALDH9A1 EXON Missense_G381R exm119661 1 165638548 [T/C] NM_000696 ALDH9A1 EXON Missense_R357Q exm119668 1 165648710 [A/G] NM_000696 ALDH9A1 EXON Missense_A300V exm119677 1 165649771 [T/C] NM_000696 ALDH9A1 EXON Missense_D248N exm119681 1 165649851 [G/C] NM_000696 ALDH9A1 EXON Missense_S221T exm119683 1 165649860 [T/G] NM_000696 ALDH9A1 EXON Missense_E218A exm1729853 1 165652272 [T/C] NM_000696 ALDH9A1 EXON Missense_D135N exm119692 1 165652283 [T/C] NM_000696 ALDH9A1 EXON Missense_R131H exm119698 1 165652343 [T/C] NM_000696 ALDH9A1 EXON Missense_R111Q exm119705 1 165664552 [T/C] NM_000696 ALDH9A1 EXON Missense_I88M exm119711 1 165667614 [C/G] NM_000696 ALDH9A1 Silent exm119716 1 165667711 [T/C] NM_000696 ALDH9A1 EXON Missense_T29A exm119717 1 165667714 [T/C] NM_000696 ALDH9A1 EXON Missense_G28S exm119720 1 165667770 [C/G] NM_000696 ALDH9A1 EXON Missense_A9G exm119723 1 165667795 [T/G] NM_000696 ALDH9A1 EXON Missense_M1L exm-rs4656461 1 165687205 [A/G] exm119730 1 165697319 [T/C] NM_001256164,NM_001256165,NM_019026,NR_045818 TMCO1,TMCO1,TMCO1,TMCO1 EXON Missense_A187T,Missense_A158T,Missense_A221T,Silent exm1729920 1 165697325 [A/G] NM_001256164,NM_001256165,NM_019026,NR_045818 TMCO1,TMCO1,TMCO1,TMCO1 EXON Nonsense_R185X,Nonsense_R156X,Nonsense_R219X,Silent exm2268777 1 165702346 [T/C] NM_001256164,NM_001256165,NM_019026,NR_045818 TMCO1,TMCO1,TMCO1,TMCO1 Silent,Silent,Silent,Silent exm119736 1 165721403 [A/G] NM_001256164,NM_001256165,NM_019026,NR_045818 TMCO1,TMCO1,TMCO1,TMCO1 EXON Nonsense_R104X,Nonsense_R75X,Nonsense_R138X,Silent exm-rs4657482 1 165831649 [A/G] NM_012474 UCK2 Silent exm1730167 1 165859549 [T/G] NM_012474 UCK2 EXON Missense_S70A exm119748 1 165859599 [A/G] NM_012474 UCK2 EXON Synonymous_P86P exm119762 1 165872479 [T/C] NM_012474 UCK2 EXON Missense_T187M exm2250165 1 165877003 [T/C] NM_012474 UCK2 EXON Synonymous_N243N exm119769 1 166039512 [T/C] NM_001017961 FAM78B EXON Missense_R251Q exm119774 1 166039602 [T/C] NM_001017961 FAM78B EXON Missense_R221Q exm119779 1 166039699 [T/C] NM_001017961 FAM78B EXON Missense_I189V exm119781 1 166039715 [A/C] NM_001017961 FAM78B EXON Missense_K183N exm119785 1 166039891 [T/C] NM_001017961 FAM78B EXON Missense_V125I exm119788 1 166039954 [T/C] NM_001017961 FAM78B EXON Missense_I104V exm2265055 1 166169203 [A/G] exm2264913 1 166268048 [A/G] exm2268778 1 166652275 [T/C] exm119823 1 166810206 [T/G] NM_017542 POGK EXON Missense_A5S exm119825 1 166810264 [A/G] NM_017542 POGK EXON Missense_R24Q exm119830 1 166815934 [A/G] NM_017542 POGK EXON Missense_R73Q exm119835 1 166816813 [A/C] NM_017542 POGK EXON Missense_Q114H exm119837 1 166818192 [A/G] NM_017542 POGK EXON Missense_V126I exm119839 1 166818273 [T/C] NM_017542 POGK EXON Missense_R153C exm119844 1 166818363 [G/C] NM_017542 POGK EXON Missense_A183P exm119872 1 166819103 [A/T] NM_017542 POGK EXON Missense_S429R exm119878 1 166819349 [A/C] NM_017542 POGK EXON Nonsense_Y511X exm119884 1 166819585 [T/C] NM_017542 POGK EXON Missense_L590S exm119889 1 166826838 [T/C] NM_053053 TADA1 EXON Missense_R325H exm119890 1 166826839 [A/G] NM_053053 TADA1 EXON Missense_R325C exm119904 1 166829517 [A/G] NM_053053 TADA1 EXON Nonsense_R200X exm119905 1 166829522 [T/C] NM_053053 TADA1 EXON Missense_R198Q exm119948 1 166890063 [T/C] NM_199351 ILDR2 EXON Missense_D589N exm119961 1 166890573 [G/C] NM_199351 ILDR2 EXON Missense_A419P exm1731417 1 166890616 [G/C] NM_199351 ILDR2 EXON Missense_S404R exm119965 1 166891884 [T/C] NM_199351 ILDR2 EXON Missense_R386H exm119967 1 166892001 [T/C] NM_199351 ILDR2 EXON Missense_S347N exm119974 1 166896415 [A/G] NM_199351 ILDR2 EXON Missense_R295C exm119979 1 166905927 [T/C] NM_199351 ILDR2 EXON Missense_V202I exm119985 1 166908766 [T/C] NM_199351 ILDR2 EXON Missense_V181M exm120004 1 166927278 [T/C] NM_199351 ILDR2 EXON Missense_Q36R exm120016 1 166958710 [T/G] NM_032858 MAEL EXON Missense_S41A exm120034 1 166961994 [A/C] NM_032858 MAEL EXON Missense_R133S exm120035 1 166961995 [A/G] NM_032858 MAEL EXON Missense_R133H exm120036 1 166962048 [A/G] NM_032858 MAEL EXON Missense_M151V exm120039 1 166963277 [A/G] NM_032858 MAEL EXON Missense_R165Q exm120046 1 166973528 [A/C] NM_032858 MAEL EXON Missense_P212H exm120065 1 166990950 [T/C] NM_032858 MAEL EXON Missense_V388A exm120069 1 166990992 [A/G] NM_032858 MAEL EXON Missense_N402S exm2250190 1 167021041 [T/C] exm120081 1 167023590 [A/G] NM_005814 GPA33 EXON Missense_P314L exm120086 1 167023680 [A/G] NM_005814 GPA33 EXON Missense_P284L exm120088 1 167024212 [A/C] NM_005814 GPA33 Silent exm120099 1 167025050 [A/G] NM_005814 GPA33 EXON Missense_T203I exm1731529 1 167032848 [A/G] NM_005814 GPA33 EXON Missense_L181P exm120107 1 167032895 [A/C] NM_005814 GPA33 EXON Missense_K165N exm120109 1 167032908 [T/G] NM_005814 GPA33 EXON Missense_T161N exm120117 1 167038173 [T/C] NM_005814 GPA33 EXON Missense_R134H exm120120 1 167038219 [A/C] NM_005814 GPA33 EXON Missense_V119F exm2275515 1 167038356 [A/G] NM_005814 GPA33 EXON Missense_P73L exm120134 1 167042622 [T/C] NM_005814 GPA33 EXON Synonymous_T66T exm120141 1 167042762 [T/C] NM_005814 GPA33 EXON Missense_D20N exm120143 1 167042765 [T/C] NM_005814 GPA33 EXON Missense_V19I exm120147 1 167059511 [A/G] NM_005814 GPA33 EXON Missense_M5T exm1731624 1 167064097 [A/G] NM_001080426 DUSP27 EXON Missense_R4K exm120168 1 167086594 [A/G] NM_001080426 DUSP27 EXON Missense_A79T exm120170 1 167086622 [G/C] NM_001080426 DUSP27 EXON Missense_A88G exm120181 1 167086718 [A/G] NM_001080426 DUSP27 EXON Missense_R120Q exm120182 1 167086721 [A/C] NM_001080426 DUSP27 EXON Missense_A121D exm120196 1 167088659 [A/G] NM_001080426 DUSP27 EXON Missense_R204Q exm120203 1 167095137 [A/G] NM_001080426 DUSP27 EXON Missense_K257E exm120205 1 167095163 [C/G] NM_001080426 DUSP27 EXON Missense_E265D exm1731707 1 167095278 [A/G] NM_001080426 DUSP27 EXON Missense_M304V exm120212 1 167095323 [A/G] NM_001080426 DUSP27 EXON Missense_D319N exm120213 1 167095338 [A/C] NM_001080426 DUSP27 EXON Missense_L324M exm120218 1 167095468 [A/C] NM_001080426 DUSP27 EXON Missense_Q367P exm1731712 1 167095564 [A/G] NM_001080426 DUSP27 EXON Missense_R399Q exm1731713 1 167095588 [A/G] NM_001080426 DUSP27 EXON Missense_G407E exm2273714 1 167095691 [A/G] NM_001080426 DUSP27 EXON Synonymous_E441E exm120240 1 167095765 [A/G] NM_001080426 DUSP27 EXON Missense_R466H exm120241 1 167095777 [T/C] NM_001080426 DUSP27 EXON Missense_S470L exm120243 1 167095786 [T/C] NM_001080426 DUSP27 EXON Missense_S473L exm120244 1 167095812 [A/G] NM_001080426 DUSP27 EXON Missense_E482K exm120245 1 167095881 [A/G] NM_001080426 DUSP27 EXON Missense_A505T exm1731717 1 167096070 [A/G] NM_001080426 DUSP27 EXON Missense_G568S exm1731718 1 167096241 [T/C] NM_001080426 DUSP27 EXON Missense_R625W exm120265 1 167096275 [T/C] NM_001080426 DUSP27 EXON Missense_T636M exm120269 1 167096337 [A/G] NM_001080426 DUSP27 EXON Missense_I657V exm120275 1 167096379 [A/G] NM_001080426 DUSP27 EXON Missense_A671T exm120279 1 167096395 [T/C] NM_001080426 DUSP27 EXON Missense_T676M exm120282 1 167096484 [A/C] NM_001080426 DUSP27 EXON Missense_P706T exm120286 1 167096554 [A/G] NM_001080426 DUSP27 EXON Missense_N729S exm120287 1 167096607 [T/C] NM_001080426 DUSP27 EXON Missense_R747C exm120288 1 167096608 [A/G] NM_001080426 DUSP27 EXON Missense_R747H exm120296 1 167096698 [T/C] NM_001080426 DUSP27 EXON Missense_S777F exm120297 1 167096726 [C/G] NM_001080426 DUSP27 EXON Missense_Q786H exm120311 1 167096931 [A/C] NM_001080426 DUSP27 EXON Missense_K855Q exm120313 1 167096961 [T/C] NM_001080426 DUSP27 EXON Missense_R865C exm120314 1 167096982 [A/G] NM_001080426 DUSP27 EXON Missense_K872E exm120315 1 167096997 [A/G] NM_001080426 DUSP27 EXON Missense_D877N exm120318 1 167097026 [A/T] NM_001080426 DUSP27 EXON Missense_D886E exm2231741 1 167097069 [T/C] NM_001080426 DUSP27 EXON Missense_R901C exm120328 1 167097230 [A/G] NM_001080426 DUSP27 EXON Nonsense_W954X exm1731724 1 167097384 [T/C] NM_001080426 DUSP27 EXON Missense_R1006W exm120333 1 167097431 [A/C] NM_001080426 DUSP27 EXON Missense_F1021L exm120341 1 167097543 [T/C] NM_001080426 DUSP27 EXON Missense_R1059C exm120343 1 167097567 [A/G] NM_001080426 DUSP27 EXON Missense_D1067N exm120345 1 167097600 [G/C] NM_001080426 DUSP27 EXON Missense_D1078H exm120351 1 167097739 [A/C] NM_001080426 DUSP27 EXON Missense_T1124N exm120357 1 167097796 [A/G] NM_001080426 DUSP27 EXON Missense_R1143H exm120358 1 167097799 [A/G] NM_001080426 DUSP27 EXON Missense_R1144Q exm120360 1 167097826 [A/G] NM_001080426 DUSP27 EXON Missense_Q1153R exm-rs9803659 1 167156500 [T/C] exm2259843 1 167160515 [T/C] exm120384 1 167341211 [T/C] NM_002697,NM_001198786,NR_037163,NM_001198783 POU2F1,POU2F1,POU2F1,POU2F1 EXON Missense_P114S,Missense_P114S,Silent,Missense_P103S exm120391 1 167343454 [T/C] NM_002697,NM_001198786,NR_037163,NM_001198783 POU2F1,POU2F1,POU2F1,POU2F1 EXON Missense_A171V,Silent,Silent,Missense_A160V exm120407 1 167358837 [A/G] NM_002697,NM_001198786,NR_037163,NM_001198783 POU2F1,POU2F1,POU2F1,POU2F1 EXON Missense_T276A,Missense_T213A,Silent,Missense_T265A exm120408 1 167358840 [T/C] NM_002697,NM_001198786,NR_037163,NM_001198783 POU2F1,POU2F1,POU2F1,POU2F1 EXON Missense_R277C,Missense_R214C,Silent,Missense_R266C exm2250196 1 167381230 [T/C] NM_002697,NM_001198786,NR_037163,NM_001198783 POU2F1,POU2F1,POU2F1,POU2F1 EXON Synonymous_T530T,Synonymous_T467T,Silent,Synonymous_T519T exm120426 1 167381230 [T/C] NM_002697,NM_001198786,NR_037163,NM_001198783 POU2F1,POU2F1,POU2F1,POU2F1 EXON Synonymous_T530T,Synonymous_T467T,Silent,Synonymous_T519T exm120448 1 167384979 [T/C] NM_002697,NM_001198786,NR_037163,NM_001198783 POU2F1,POU2F1,POU2F1,POU2F1 EXON Missense_S745P,Missense_S682P,Silent,Missense_S734P exm120460 1 167402295 [T/C] NM_198053,NM_000734 CD247,CD247 EXON Missense_R132H,Missense_R131H exm120476 1 167404671 [A/G] NM_198053,NM_000734 CD247,CD247 EXON Nonsense_Q101X,Silent exm120479 1 167407819 [A/C] NM_198053,NM_000734 CD247,CD247 EXON Missense_M96I,Missense_M96I exm1732263 1 167407856 [T/C] NM_198053,NM_000734 CD247,CD247 EXON Missense_D84G,Missense_D84G exm-rs840016 1 167408670 [T/C] NM_198053,NM_000734 CD247,CD247 Silent,Silent exm120494 1 167409915 [A/G] NM_198053,NM_000734 CD247,CD247 EXON Missense_F50L,Missense_F50L exm-rs864537 1 167411384 [A/G] NM_198053,NM_000734 CD247,CD247 Silent,Silent exm-rs2056626 1 167420425 [T/G] NM_198053,NM_000734 CD247,CD247 Silent,Silent exm120507 1 167515350 [T/A] NM_003851 CREG1 EXON Missense_N216I exm120512 1 167515425 [T/C] NM_003851 CREG1 EXON Missense_K191R exm2250198 1 167531272 [A/G] exm120545 1 167653143 [T/C] NM_052862 RCSD1 EXON Missense_P5S exm120555 1 167654670 [A/G] NM_052862 RCSD1 EXON Missense_K41E exm1732364 1 167654716 [A/C] NM_052862 RCSD1 EXON Missense_P56H exm120564 1 167659308 [T/A] NM_052862 RCSD1 EXON Missense_H74L exm120596 1 167666481 [T/G] NM_052862 RCSD1 EXON Missense_L207W exm120601 1 167666550 [A/C] NM_052862 RCSD1 EXON Missense_T230N exm120604 1 167666583 [A/G] NM_052862 RCSD1 EXON Missense_R241K exm120605 1 167666627 [A/G] NM_052862 RCSD1 EXON Missense_E256K exm120612 1 167666706 [T/C] NM_052862 RCSD1 EXON Missense_P282L exm120619 1 167666809 [C/G] NM_052862 RCSD1 EXON Missense_E316D exm120622 1 167666892 [T/C] NM_052862 RCSD1 EXON Missense_A344V exm120630 1 167666981 [C/G] NM_052862 RCSD1 EXON Missense_G374R exm120632 1 167667008 [T/C] NM_052862 RCSD1 EXON Missense_P383S exm120634 1 167667012 [A/G] NM_052862 RCSD1 EXON Missense_Q384R exm120638 1 167673917 [A/G] NM_052862 RCSD1 EXON Missense_Q412R exm-rs10918767 1 167763804 [T/G] exm120664 1 167778926 [T/C] NM_001167749,NM_018417 ADCY10,ADCY10 EXON Missense_N1455D,Missense_N1608D exm120665 1 167778932 [T/C] NM_001167749,NM_018417 ADCY10,ADCY10 EXON Missense_V1453M,Missense_V1606M exm120667 1 167778979 [T/A] NM_001167749,NM_018417 ADCY10,ADCY10 EXON Missense_N1437I,Missense_N1590I exm120669 1 167778994 [A/G] NM_001167749,NM_018417 ADCY10,ADCY10 EXON Missense_V1432A,Missense_V1585A exm120671 1 167779027 [A/G] NM_001167749,NM_018417 ADCY10,ADCY10 EXON Missense_T1421M,Missense_T1574M exm120673 1 167779982 [A/G] NM_001167749,NM_018417 ADCY10,ADCY10 EXON Missense_C1398R,Missense_C1551R exm120676 1 167780071 [T/C] NM_001167749,NM_018417 ADCY10,ADCY10 EXON Missense_C1368Y,Missense_C1521Y exm120677 1 167780075 [T/C] NM_001167749,NM_018417 ADCY10,ADCY10 EXON Missense_V1367I,Missense_V1520I exm120679 1 167780083 [A/G] NM_001167749,NM_018417 ADCY10,ADCY10 EXON Missense_M1364T,Missense_M1517T exm120680 1 167780086 [A/G] NM_001167749,NM_018417 ADCY10,ADCY10 EXON Missense_L1363P,Missense_L1516P exm120682 1 167780103 [G/C] NM_001167749,NM_018417 ADCY10,ADCY10 EXON Missense_C1357W,Missense_C1510W exm120694 1 167787475 [A/T] NM_001167749,NM_018417 ADCY10,ADCY10 EXON Missense_F1286L,Missense_F1439L exm120695 1 167787479 [T/C] NM_001167749,NM_018417 ADCY10,ADCY10 EXON Missense_N1285S,Missense_N1438S exm120696 1 167791328 [T/C] NM_001167749,NM_018417 ADCY10,ADCY10 EXON Missense_E1254G,Missense_E1407G exm120700 1 167792333 [A/G] NM_001167749,NM_018417 ADCY10,ADCY10 EXON Missense_R1208W,Missense_R1361W exm120703 1 167792342 [A/C] NM_001167749,NM_018417 ADCY10,ADCY10 EXON Missense_V1205L,Missense_V1358L exm120705 1 167792356 [A/G] NM_001167749,NM_018417 ADCY10,ADCY10 EXON Missense_P1200L,Missense_P1353L exm120709 1 167793766 [A/G] NM_001167749,NM_018417 ADCY10,ADCY10 EXON Nonsense_R1181X,Nonsense_R1334X exm120728 1 167798636 [A/G] NM_001167749,NM_018417 ADCY10,ADCY10 EXON Missense_R1054W,Missense_R1207W exm120730 1 167802226 [T/C] NM_001167749,NM_018417 ADCY10,ADCY10 EXON Missense_G1045R,Missense_G1198R exm120733 1 167802276 [T/C] NM_001167749,NM_018417 ADCY10,ADCY10 EXON Missense_N1028S,Missense_N1181S exm120744 1 167805621 [T/C] NM_001167749,NM_018417 ADCY10,ADCY10 EXON Missense_G926R,Missense_G1079R exm120751 1 167805771 [T/C] NM_001167749,NM_018417 ADCY10,ADCY10 EXON Missense_E876K,Missense_E1029K exm120752 1 167805777 [A/G] NM_001167749,NM_018417 ADCY10,ADCY10 EXON Missense_P874S,Missense_P1027S exm1732534 1 167814812 [T/C] NM_001167749,NM_018417 ADCY10,ADCY10 EXON Missense_H846R,Missense_H999R exm120756 1 167814913 [T/G] NM_001167749,NM_018417 ADCY10,ADCY10 EXON Missense_D812E,Missense_D965E exm120766 1 167815068 [A/G] NM_001167749,NM_018417 ADCY10,ADCY10 EXON Missense_R761C,Missense_R914C exm120772 1 167817632 [T/G] NM_001167749,NM_018417 ADCY10,ADCY10 EXON Missense_L649M,Missense_L802M exm120781 1 167823621 [T/G] NM_001167749,NM_018417 ADCY10,ADCY10 EXON Missense_K607Q,Missense_K760Q exm120783 1 167823663 [A/G] NM_001167749,NM_018417 ADCY10,ADCY10 EXON Missense_H593Y,Missense_H746Y exm120788 1 167825449 [T/C] NM_001167749,NM_018417 ADCY10,ADCY10 EXON Missense_I556V,Missense_I709V exm120792 1 167825485 [T/C] NM_001167749,NM_018417 ADCY10,ADCY10 EXON Missense_I544V,Missense_I697V exm120795 1 167825532 [A/G] NM_001167749,NM_018417 ADCY10,ADCY10 EXON Missense_A528V,Missense_A681V exm120815 1 167830227 [A/G] NM_001167749,NM_018417 ADCY10,ADCY10 EXON Missense_V411A,Missense_V564A exm120825 1 167844413 [A/G] NM_001167749,NM_018417 ADCY10,ADCY10 EXON Missense_M320T,Missense_M473T exm120828 1 167847696 [T/C] NM_001167749,NM_018417 ADCY10,ADCY10 EXON Missense_R312H,Missense_R465H exm120836 1 167847808 [T/C] NM_001167749,NM_018417 ADCY10,ADCY10 EXON Missense_D275N,Missense_D428N exm2264915 1 167849414 [A/G] NM_001167749,NM_018417 ADCY10,ADCY10 EXON Synonymous_G232G,Synonymous_G385G exm120843 1 167849416 [T/C] NM_001167749,NM_018417 ADCY10,ADCY10 EXON Missense_G232S,Missense_G385S exm120866 1 167863161 [T/C] NM_001167749,NM_018417 ADCY10,ADCY10 EXON Missense_C100Y,Missense_C253Y exm120869 1 167865871 [A/G] NM_001167749,NM_018417 ADCY10,ADCY10 EXON Missense_T81M,Missense_T234M exm2273715 1 167865921 [T/G] NM_001167749,NM_018417 ADCY10,ADCY10 EXON Missense_F64L,Missense_F217L exm120891 1 167874240 [T/C] NM_001167749,NM_018417 ADCY10,ADCY10 EXON Silent,Missense_D47N exm120897 1 167874359 [T/G] NM_001167749,NM_018417 ADCY10,ADCY10 EXON Silent,Missense_E7A exm120911 1 167905012 [A/G] NM_001143674,NR_026550,NM_015415 MPC2,MPC2,MPC2 EXON Missense_M23T,Silent,Missense_M23T exm120912 1 167905024 [T/C] NM_001143674,NR_026550,NM_015415 MPC2,MPC2,MPC2 EXON Missense_K19R,Silent,Missense_K19R exm120913 1 167905028 [T/C] NM_001143674,NR_026550,NM_015415 MPC2,MPC2,MPC2 EXON Missense_D18N,Silent,Missense_D18N exm120920 1 167935880 [A/G] NM_001017977,NM_001198956,NM_018442,NM_001198957 DCAF6,DCAF6,DCAF6,DCAF6 EXON Missense_C58Y,Missense_C58Y,Missense_C58Y,Silent exm120950 1 167973797 [A/G] NM_001017977,NM_001198956,NM_018442,NM_001198957 DCAF6,DCAF6,DCAF6,DCAF6 EXON Missense_T382A,Missense_T382A,Missense_T382A,Missense_T351A exm120956 1 167992234 [T/C] NM_001017977,NM_001198956,NM_018442,NM_001198957 DCAF6,DCAF6,DCAF6,DCAF6 EXON Silent,Missense_S520P,Missense_S463P,Missense_S489P exm120957 1 167992265 [T/C] NM_001017977,NM_001198956,NM_018442,NM_001198957 DCAF6,DCAF6,DCAF6,DCAF6 EXON Silent,Missense_M530T,Missense_M473T,Missense_M499T exm120963 1 168012292 [T/C] NM_001017977,NM_001198956,NM_018442,NM_001198957 DCAF6,DCAF6,DCAF6,DCAF6 EXON Missense_I509T,Missense_I586T,Missense_I529T,Missense_I555T exm120970 1 168013847 [A/G] NM_001017977,NM_001198956,NM_018442,NM_001198957 DCAF6,DCAF6,DCAF6,DCAF6 EXON Missense_D546G,Missense_D623G,Missense_D566G,Missense_D592G exm120972 1 168013850 [T/C] NM_001017977,NM_001198956,NM_018442,NM_001198957 DCAF6,DCAF6,DCAF6,DCAF6 EXON Missense_V547A,Missense_V624A,Missense_V567A,Missense_V593A exm120973 1 168013865 [A/G] NM_001017977,NM_001198956,NM_018442,NM_001198957 DCAF6,DCAF6,DCAF6,DCAF6 EXON Missense_E552G,Missense_E629G,Missense_E572G,Missense_E598G exm120974 1 168013876 [A/G] NM_001017977,NM_001198956,NM_018442,NM_001198957 DCAF6,DCAF6,DCAF6,DCAF6 EXON Missense_A556T,Missense_A633T,Missense_A576T,Missense_A602T exm120978 1 168014138 [T/C] NM_001017977,NM_001198956,NM_018442,NM_001198957 DCAF6,DCAF6,DCAF6,DCAF6 EXON Missense_T567I,Missense_T644I,Missense_T587I,Missense_T613I exm120979 1 168014177 [A/G] NM_001017977,NM_001198956,NM_018442,NM_001198957 DCAF6,DCAF6,DCAF6,DCAF6 EXON Missense_N580S,Missense_N657S,Missense_N600S,Missense_N626S exm120987 1 168014344 [A/C] NM_001017977,NM_001198956,NM_018442,NM_001198957 DCAF6,DCAF6,DCAF6,DCAF6 EXON Missense_T636P,Missense_T713P,Missense_T656P,Missense_T682P exm120991 1 168014447 [A/G] NM_001017977,NM_001198956,NM_018442,NM_001198957 DCAF6,DCAF6,DCAF6,DCAF6 EXON Missense_R670Q,Missense_R747Q,Missense_R690Q,Missense_R716Q exm121064 1 168066072 [T/C] NM_001267609,NM_001267614,NM_001267610,NM_153832,NM_001267613,NM_001267612,NM_001267611 GPR161,GPR161,GPR161,GPR161,GPR161,GPR161,GPR161 EXON Missense_G278D,Missense_G144D,Missense_G258D,Missense_G258D,Missense_G180D,Missense_G126D,Missense_G275D exm121067 1 168066133 [T/C] NM_001267609,NM_001267614,NM_001267610,NM_153832,NM_001267613,NM_001267612,NM_001267611 GPR161,GPR161,GPR161,GPR161,GPR161,GPR161,GPR161 EXON Missense_G258R,Missense_G124R,Missense_G238R,Missense_G238R,Missense_G160R,Missense_G106R,Missense_G255R exm121069 1 168066163 [T/C] NM_001267609,NM_001267614,NM_001267610,NM_153832,NM_001267613,NM_001267612,NM_001267611 GPR161,GPR161,GPR161,GPR161,GPR161,GPR161,GPR161 EXON Missense_V248I,Missense_V114I,Missense_V228I,Missense_V228I,Missense_V150I,Missense_V96I,Missense_V245I exm121072 1 168066183 [T/C] NM_001267609,NM_001267614,NM_001267610,NM_153832,NM_001267613,NM_001267612,NM_001267611 GPR161,GPR161,GPR161,GPR161,GPR161,GPR161,GPR161 EXON Missense_K241R,Missense_K107R,Missense_K221R,Missense_K221R,Missense_K143R,Missense_K89R,Missense_K238R exm121073 1 168066205 [T/C] NM_001267609,NM_001267614,NM_001267610,NM_153832,NM_001267613,NM_001267612,NM_001267611 GPR161,GPR161,GPR161,GPR161,GPR161,GPR161,GPR161 EXON Missense_V234M,Missense_V100M,Missense_V214M,Missense_V214M,Missense_V136M,Missense_V82M,Missense_V231M exm121083 1 168066340 [T/C] NM_001267609,NM_001267614,NM_001267610,NM_153832,NM_001267613,NM_001267612,NM_001267611 GPR161,GPR161,GPR161,GPR161,GPR161,GPR161,GPR161 EXON Missense_V189M,Missense_V55M,Missense_V169M,Missense_V169M,Missense_V91M,Missense_V37M,Missense_V186M exm121085 1 168066400 [T/C] NM_001267609,NM_001267614,NM_001267610,NM_153832,NM_001267613,NM_001267612,NM_001267611 GPR161,GPR161,GPR161,GPR161,GPR161,GPR161,GPR161 EXON Missense_V169I,Missense_V35I,Missense_V149I,Missense_V149I,Missense_V71I,Missense_V17I,Missense_V166I exm121112 1 168154019 [T/C] NM_001031800,NM_152902 TIPRL,TIPRL EXON Missense_T96M,Missense_T96M exm121135 1 168195335 [C/G] NM_199344 SFT2D2 EXON Missense_K6N exm121138 1 168195363 [T/C] NM_199344 SFT2D2 EXON Missense_R16W exm121154 1 168204394 [T/C] NM_199344 SFT2D2 EXON Missense_R98C exm121158 1 168205991 [T/G] NM_199344 SFT2D2 EXON Missense_Q132H exm121172 1 168250410 [T/C] NM_005149 TBX19 EXON Nonsense_Q28X exm121181 1 168260481 [T/C] NM_005149 TBX19 EXON Missense_T96M exm121197 1 168262448 [T/C] NM_005149 TBX19 EXON Nonsense_R179X exm121209 1 168269704 [A/G] NM_005149 TBX19 EXON Missense_H237R exm121210 1 168269718 [T/C] NM_005149 TBX19 EXON Missense_H242Y exm121216 1 168274279 [T/C] NM_005149 TBX19 EXON Missense_V254A exm121222 1 168274374 [T/C] NM_005149 TBX19 EXON Nonsense_R286X exm2250205 1 168274385 [A/G] NM_005149 TBX19 EXON Synonymous_R289R exm121239 1 168282040 [T/C] NM_005149 TBX19 EXON Missense_L383F exm121309 1 168549415 [T/C] NM_002995 XCL1 EXON Missense_I59T exm2250208 1 168575163 [T/C] exm-rs1412337 1 168618641 [A/G] exm121327 1 168665792 [T/C] NM_001937 DPT EXON Missense_V201I exm1733231 1 168665811 [A/G] NM_001937 DPT EXON Synonymous_Y194Y exm121341 1 168683471 [A/G] NM_001937 DPT EXON Missense_P140L exm121343 1 168683477 [T/C] NM_001937 DPT EXON Missense_R138K exm121349 1 168683529 [T/C] NM_001937 DPT EXON Missense_E121K exm121356 1 168698165 [A/C] NM_001937 DPT EXON Missense_S83I exm2273717 1 168698208 [A/G] NM_001937 DPT EXON Missense_S69P exm121361 1 168698238 [T/C] NM_001937 DPT EXON Missense_V59M exm121363 1 168698286 [A/G] NM_001937 DPT EXON Missense_R43W exm121365 1 168698298 [T/C] NM_001937 DPT EXON Missense_V39M exm121372 1 168698405 [A/G] NM_001937 DPT EXON Missense_L3P exm2250211 1 168863309 [T/C] exm121393 1 169094276 [T/C] NM_001677 ATP1B1 EXON Synonymous_G127G exm121394 1 169096477 [T/C] NM_001677 ATP1B1 EXON Missense_P133L exm-rs10919071 1 169099483 [A/G] NM_001677 ATP1B1 Silent exm121409 1 169100680 [A/T] NM_001677 ATP1B1 EXON Missense_T267S exm-rs16861990 1 169135127 [A/C] NM_013330,NM_197972 NME7,NME7 Silent,Silent exm121428 1 169138708 [T/G] NM_013330,NM_197972 NME7,NME7 EXON Missense_L359M,Missense_L323M exm121429 1 169138782 [T/C] NM_013330,NM_197972 NME7,NME7 EXON Missense_R334Q,Missense_R298Q exm121453 1 169267828 [A/G] NM_013330,NM_197972 NME7,NME7 EXON Missense_A205V,Missense_A169V exm121464 1 169272413 [T/C] NM_013330,NM_197972 NME7,NME7 EXON Missense_H137R,Missense_H101R exm121468 1 169279239 [T/C] NM_013330,NM_197972 NME7,NME7 EXON Missense_I120V,Missense_I84V exm121471 1 169292355 [T/A] NM_013330,NM_197972 NME7,NME7 EXON Missense_K93I,Missense_K57I exm121496 1 169345868 [A/G] NM_003666 BLZF1 EXON Missense_Q40R exm121497 1 169345883 [A/G] NM_003666 BLZF1 EXON Missense_H45R exm121498 1 169345894 [A/C] NM_003666 BLZF1 EXON Missense_S49R exm1733616 1 169346051 [A/C] NM_003666 BLZF1 EXON Missense_S101Y exm121505 1 169346081 [G/C] NM_003666 BLZF1 EXON Missense_G111A exm121512 1 169347635 [A/G] NM_003666 BLZF1 EXON Missense_R179H exm121517 1 169347686 [A/G] NM_003666 BLZF1 EXON Missense_R196Q exm121528 1 169349811 [A/G] NM_003666 BLZF1 EXON Missense_R254Q exm121541 1 169356298 [T/A] NM_003666 BLZF1 EXON Missense_S361T exm121544 1 169356327 [G/C] NM_003666 BLZF1 EXON Missense_K370N exm121560 1 169366494 [A/G] NM_021179 C1orf114 EXON Missense_R450W exm121563 1 169366558 [T/G] NM_021179 C1orf114 EXON Missense_E428D exm121572 1 169388390 [T/C] NM_021179 C1orf114 EXON Missense_R359Q exm121574 1 169390675 [T/C] NM_021179 C1orf114 EXON Missense_T332A exm121579 1 169390761 [T/C] NM_021179 C1orf114 EXON Missense_S303N exm1733641 1 169390764 [A/G] NM_021179 C1orf114 EXON Missense_P302L exm121581 1 169390777 [A/G] NM_021179 C1orf114 EXON Missense_R298C exm121582 1 169390786 [A/G] NM_021179 C1orf114 EXON Missense_P295S exm121588 1 169390851 [A/G] NM_021179 C1orf114 EXON Missense_T273I exm121599 1 169391103 [A/C] NM_021179 C1orf114 EXON Nonsense_L189X exm2273718 1 169391135 [A/G] NM_021179 C1orf114 EXON Synonymous_N178N exm121603 1 169391154 [A/G] NM_021179 C1orf114 EXON Missense_F172S exm121604 1 169391169 [T/C] NM_021179 C1orf114 EXON Missense_E167G exm121615 1 169394057 [T/C] NM_021179 C1orf114 EXON Missense_I37V exm1733647 1 169394083 [T/G] NM_021179 C1orf114 EXON Missense_N28T exm121620 1 169435182 [T/C] NM_006996 SLC19A2 EXON Missense_A467T exm121623 1 169435214 [A/T] NM_006996 SLC19A2 EXON Missense_F456Y exm121625 1 169437392 [A/G] NM_006996 SLC19A2 EXON Missense_I441T exm121638 1 169438012 [A/T] NM_006996 SLC19A2 EXON Missense_T365S exm121640 1 169438042 [T/G] NM_006996 SLC19A2 EXON Missense_K355Q exm121648 1 169439408 [A/C] NM_006996 SLC19A2 EXON Missense_R275L exm121652 1 169446404 [T/C] NM_006996 SLC19A2 EXON Missense_V266M exm121666 1 169446881 [T/C] NM_006996 SLC19A2 EXON Missense_S107G exm121681 1 169483561 [T/C] NM_000130 F5 EXON Missense_D2222G exm121684 1 169483672 [T/C] NM_000130 F5 EXON Missense_K2185R exm121688 1 169484750 [T/G] NM_000130 F5 EXON Missense_T2154P exm121699 1 169487673 [A/G] NM_000130 F5 EXON Missense_R2108C exm121715 1 169494140 [T/C] NM_000130 F5 EXON Missense_R1908K exm1733727 1 169497194 [A/C] NM_000130 F5 EXON Missense_G1853V exm121732 1 169497306 [A/G] NM_000130 F5 EXON Missense_P1816S exm121733 1 169497321 [A/T] NM_000130 F5 EXON Missense_M1811L exm121743 1 169498975 [T/C] NM_000130 F5 EXON Missense_M1764V exm121745 1 169499000 [T/C] NM_000130 F5 EXON Missense_I1755M exm121746 1 169499020 [C/G] NM_000130 F5 EXON Missense_L1749V exm121750 1 169500056 [A/G] NM_000130 F5 EXON Missense_R1726W exm121765 1 169505880 [A/T] NM_000130 F5 EXON Missense_D1612V exm121773 1 169509698 [A/C] NM_000130 F5 EXON Missense_V1544L exm121775 1 169509739 [T/G] NM_000130 F5 EXON Missense_E1530A exm121781 1 169509923 [A/G] NM_000130 F5 EXON Missense_S1469P exm121797 1 169510118 [A/G] NM_000130 F5 EXON Missense_P1404S exm121798 1 169510139 [A/G] NM_000130 F5 EXON Missense_L1397F exm121818 1 169510475 [T/G] NM_000130 F5 EXON Missense_L1285I exm121833 1 169510697 [T/C] NM_000130 F5 EXON Missense_T1211A exm121844 1 169510890 [C/G] NM_000130 F5 EXON Missense_H1146Q exm2231785 1 169510926 [T/G] NM_000130 F5 EXON Missense_D1134E exm121847 1 169510964 [A/G] NM_000130 F5 EXON Missense_P1122S exm121848 1 169511003 [T/C] NM_000130 F5 EXON Missense_G1109S exm121850 1 169511071 [A/G] NM_000130 F5 EXON Missense_L1086S exm121855 1 169511117 [A/G] NM_000130 F5 EXON Missense_H1071Y exm121857 1 169511166 [T/G] NM_000130 F5 EXON Missense_E1054D exm121862 1 169511389 [A/C] NM_000130 F5 EXON Missense_R980L exm121867 1 169511422 [T/C] NM_000130 F5 EXON Missense_N969S exm121868 1 169511429 [T/C] NM_000130 F5 EXON Missense_A967T exm121873 1 169511464 [A/C] NM_000130 F5 EXON Missense_S955I exm121877 1 169511522 [G/C] NM_000130 F5 EXON Missense_Q936E exm121879 1 169511555 [T/C] NM_000130 F5 EXON Missense_K925E exm121881 1 169511576 [A/G] NM_000130 F5 EXON Missense_P918S exm121885 1 169511615 [T/C] NM_000130 F5 EXON Missense_R905G exm121894 1 169511734 [T/C] NM_000130 F5 EXON Missense_H865R exm121896 1 169511755 [T/C] NM_000130 F5 EXON Missense_K858R exm121903 1 169511878 [T/G] NM_000130 F5 EXON Missense_N817T exm121907 1 169511903 [A/G] NM_000130 F5 EXON Missense_P809S exm121912 1 169511989 [A/G] NM_000130 F5 EXON Missense_P780L exm121924 1 169512109 [T/C] NM_000130 F5 EXON Missense_R740Q exm121929 1 169512199 [T/C] NM_000130 F5 EXON Missense_H710R exm2231787 1 169512296 [T/C] NM_000130 F5 EXON Missense_K678E exm121936 1 169512319 [C/G] NM_000130 F5 EXON Missense_P670R exm121943 1 169513583 [T/G] NM_000130 F5 EXON Synonymous_T642T exm2250216 1 169513583 [T/G] NM_000130 F5 EXON Synonymous_T642T exm121962 1 169519086 [C/G] NM_000130 F5 EXON Missense_L522V exm121964 1 169519112 [T/C] NM_000130 F5 EXON Missense_R513K exm121969 1 169519883 [A/G] NM_000130 F5 EXON Missense_T464I exm121977 1 169521853 [A/G] NM_000130 F5 EXON Missense_M413T exm121983 1 169524432 [A/G] NM_000130 F5 EXON Missense_A369V exm121985 1 169524517 [A/G] NM_000130 F5 EXON Missense_R341C exm121989 1 169524542 [T/G] NM_000130 F5 EXON Missense_K332N exm2259849 1 169527856 [T/C] NM_000130 F5 Silent exm122008 1 169528493 [T/G] NM_000130 F5 EXON Missense_Q210K exm122012 1 169529812 [A/G] NM_000130 F5 EXON Missense_P189L exm122015 1 169529840 [T/C] NM_000130 F5 EXON Missense_E180K exm122022 1 169529974 [A/G] NM_000130 F5 EXON Missense_A135V exm122025 1 169541513 [C/G] NM_000130 F5 EXON Missense_D107H exm122035 1 169555519 [T/C] NM_000130 F5 EXON Missense_V36M exm122036 1 169555582 [T/C] NM_000130 F5 EXON Missense_G15S exm122039 1 169559396 [A/G] NM_003005 SELP EXON Missense_P828L exm122044 1 169562857 [T/C] NM_003005 SELP EXON Missense_R798H exm122045 1 169562881 [A/G] NM_003005 SELP EXON Missense_T790M exm122058 1 169563951 [T/G] NM_003005 SELP EXON Missense_T756P exm122062 1 169564037 [T/C] NM_003005 SELP EXON Missense_G727E exm122070 1 169565246 [T/C] NM_003005 SELP EXON Missense_N673S exm122071 1 169565282 [T/G] NM_003005 SELP EXON Missense_T661N exm122075 1 169565346 [A/C] NM_003005 SELP EXON Missense_V640L exm122077 1 169565372 [A/C] NM_003005 SELP EXON Missense_G631V exm122081 1 169566265 [A/C] NM_003005 SELP EXON Missense_S619A exm122085 1 169566310 [A/T] NM_003005 SELP EXON Missense_N604Y exm122086 1 169566313 [T/C] NM_003005 SELP EXON Missense_D603N exm122094 1 169572289 [T/C] NM_003005 SELP EXON Nonsense_W560X exm122095 1 169572294 [A/G] NM_003005 SELP EXON Missense_R559C exm122104 1 169572434 [T/G] NM_003005 SELP EXON Missense_P512H exm122106 1 169576207 [A/G] NM_003005 SELP EXON Missense_S500F exm122110 1 169576333 [T/C] NM_003005 SELP EXON Missense_R458Q exm122111 1 169576372 [C/G] NM_003005 SELP EXON Missense_A445G exm122117 1 169578789 [T/C] NM_003005 SELP EXON Missense_R429Q exm122118 1 169578799 [T/C] NM_003005 SELP EXON Missense_D426N exm122119 1 169578810 [A/T] NM_003005 SELP EXON Missense_L422Q exm122120 1 169578831 [T/C] NM_003005 SELP EXON Missense_R415H exm122121 1 169578832 [A/G] NM_003005 SELP EXON Missense_R415C exm122125 1 169578894 [T/C] NM_003005 SELP EXON Missense_H394R exm122128 1 169578921 [A/G] NM_003005 SELP EXON Missense_S385L exm-rs2235302 1 169580290 [T/C] NM_003005 SELP Silent exm122133 1 169580777 [T/C] NM_003005 SELP EXON Missense_R367H exm122135 1 169580782 [T/C] NM_003005 SELP EXON Missense_M365I exm122136 1 169580789 [A/G] NM_003005 SELP EXON Missense_L363S exm122137 1 169580808 [T/C] NM_003005 SELP EXON Missense_G357S exm122139 1 169580858 [A/G] NM_003005 SELP EXON Missense_P340L exm122142 1 169580885 [T/C] NM_003005 SELP EXON Missense_S331N exm1733839 1 169580892 [T/C] NM_003005 SELP EXON Missense_A329T exm122146 1 169581514 [A/G] NM_003005 SELP EXON Missense_P301L exm122147 1 169581595 [A/G] NM_003005 SELP EXON Missense_T274I exm122148 1 169581608 [A/G] NM_003005 SELP EXON Nonsense_R270X exm122158 1 169582317 [T/C] NM_003005 SELP EXON Missense_V209M exm122161 1 169582825 [A/G] NM_003005 SELP EXON Synonymous_Y196Y exm122162 1 169582878 [T/C] NM_003005 SELP EXON Missense_G179R exm122171 1 169586281 [T/C] NM_003005 SELP EXON Missense_A156T exm122190 1 169586577 [T/C] NM_003005 SELP EXON Missense_R57H exm122195 1 169588415 [T/C] NM_003005 SELP EXON Missense_V16M exm2268782 1 169591080 [T/C] NM_003005 SELP Silent exm-rs1569476 1 169608917 [T/C] exm122202 1 169660939 [T/C] NR_029467,NM_000655 SELL,SELL EXON Silent,Missense_N382D exm122207 1 169670700 [T/C] NR_029467,NM_000655 SELL,SELL Silent,Silent exm122209 1 169670822 [T/G] NR_029467,NM_000655 SELL,SELL EXON Silent,Missense_D333E exm122215 1 169673838 [A/G] NR_029467,NM_000655 SELL,SELL EXON Silent,Missense_P226S exm122219 1 169673874 [C/G] NR_029467,NM_000655 SELL,SELL EXON Silent,Missense_E214Q exm122222 1 169676486 [A/G] NR_029467,NM_000655 SELL,SELL EXON Silent,Missense_F206L exm122237 1 169677923 [G/C] NR_029467,NM_000655 SELL,SELL EXON Silent,Missense_T49S exm122239 1 169679619 [A/G] NM_000655 SELL EXON Missense_W28R exm122246 1 169694935 [C/G] NM_000450 SELE EXON Missense_Q595E exm122251 1 169695870 [A/G] NM_000450 SELE EXON Missense_L575F exm122254 1 169695945 [A/G] NM_000450 SELE EXON Missense_P550S exm1733894 1 169696581 [A/G] NM_000450 SELE EXON Synonymous_F518F exm122267 1 169696946 [A/G] NM_000450 SELE EXON Missense_H468Y exm122271 1 169697057 [T/C] NM_000450 SELE EXON Missense_D431N exm122275 1 169697217 [C/G] NM_000450 SELE EXON Missense_E421Q exm122282 1 169697312 [T/C] NM_000450 SELE EXON Missense_R389H exm122283 1 169697313 [A/G] NM_000450 SELE EXON Missense_R389C exm122288 1 169698442 [T/G] NM_000450 SELE EXON Missense_F325L exm122297 1 169698647 [T/C] NM_000450 SELE EXON Missense_E295K exm122300 1 169698760 [T/G] NM_000450 SELE EXON Missense_Q257P exm122321 1 169701060 [T/G] NM_000450 SELE EXON Missense_S149R exm122323 1 169701771 [A/C] NM_000450 SELE EXON Missense_A136S exm1733905 1 169701809 [T/C] NM_000450 SELE EXON Missense_G123D exm122328 1 169701851 [T/C] NM_000450 SELE EXON Missense_E109G exm122329 1 169701892 [A/C] NM_000450 SELE EXON Missense_K95N exm122337 1 169702116 [A/C] NM_000450 SELE EXON Missense_A21S exm122363 1 169761758 [T/A] NM_033418 METTL18 EXON Missense_K360M exm122367 1 169761863 [A/G] NM_033418 METTL18 EXON Missense_A325V exm122370 1 169761897 [T/G] NM_033418 METTL18 EXON Missense_S314R exm122371 1 169761910 [G/C] NM_033418 METTL18 EXON Missense_F309L exm122379 1 169762047 [A/G] NM_033418 METTL18 EXON Nonsense_R264X exm122391 1 169762473 [G/C] NM_033418 METTL18 EXON Missense_P122A exm122394 1 169762613 [A/G] NM_033418 METTL18 EXON Missense_T75I exm122395 1 169762661 [T/G] NM_033418 METTL18 EXON Missense_H59P exm122396 1 169762670 [C/G] NM_033418 METTL18 EXON Missense_P56R exm122404 1 169762807 [T/G] NM_033418 METTL18 EXON Missense_E10D exm1733910 1 169762826 [T/C] NM_033418 METTL18 EXON Missense_Q4R exm122421 1 169770059 [T/C] NM_018186 C1orf112 EXON Missense_H5Y exm122436 1 169772397 [A/G] NM_018186 C1orf112 EXON Missense_S87G exm122443 1 169773226 [C/G] NM_018186 C1orf112 EXON Missense_S108C exm2273719 1 169773337 [A/G] NM_018186 C1orf112 EXON Missense_D145G exm122451 1 169773351 [T/G] NM_018186 C1orf112 EXON Missense_D150Y exm122456 1 169775208 [A/G] NM_018186 C1orf112 EXON Missense_N181S exm122475 1 169776993 [A/G] NM_018186 C1orf112 EXON Missense_S209G exm122476 1 169777033 [T/G] NM_018186 C1orf112 EXON Nonsense_L222X exm2231794 1 169792583 [T/C] NM_018186 C1orf112 EXON Missense_T273I exm122508 1 169796197 [T/C] NM_018186 C1orf112 EXON Missense_F285S exm122521 1 169798423 [A/G] NM_018186 C1orf112 EXON Missense_V383I exm122522 1 169798444 [T/C] NM_018186 C1orf112 EXON Missense_C390R exm122523 1 169798477 [T/C] NM_018186 C1orf112 EXON Nonsense_Q401X exm122537 1 169799880 [T/G] NM_018186 C1orf112 EXON Missense_A481S exm122553 1 169806228 [A/G] NM_018186 C1orf112 EXON Missense_R567H exm122561 1 169811625 [A/C] NM_018186 C1orf112 EXON Missense_Q598P exm122563 1 169812828 [T/C] NM_018186 C1orf112 EXON Missense_P621L exm122573 1 169816943 [A/G] NM_018186 C1orf112 EXON Missense_Q686R exm122584 1 169820962 [A/G] NM_018186 C1orf112 EXON Missense_G750E exm122590 1 169821055 [A/C] NM_018186 C1orf112 EXON Missense_E781A exm122605 1 169823521 [T/C] NM_181093,NM_020423 SCYL3,SCYL3 EXON Missense_A687T,Missense_A633T exm122609 1 169823611 [T/C] NM_181093,NM_020423 SCYL3,SCYL3 EXON Missense_E657K,Missense_E603K exm122611 1 169823670 [A/G] NM_181093,NM_020423 SCYL3,SCYL3 EXON Missense_P637L,Missense_P583L exm122614 1 169823718 [T/C] NM_181093,NM_020423 SCYL3,SCYL3 EXON Missense_Q621R,Missense_Q567R exm1733958 1 169823778 [A/G] NM_181093,NM_020423 SCYL3,SCYL3 EXON Missense_P601L,Missense_P547L exm122617 1 169823790 [G/C] NM_181093,NM_020423 SCYL3,SCYL3 EXON Missense_G597A,Missense_G543A exm122627 1 169824104 [A/G] NM_181093,NM_020423 SCYL3,SCYL3 EXON Synonymous_G492G,Synonymous_G438G exm122633 1 169824967 [A/G] NM_181093,NM_020423 SCYL3,SCYL3 EXON Nonsense_R482X,Silent exm122635 1 169824981 [T/C] NM_181093,NM_020423 SCYL3,SCYL3 EXON Missense_K477R,Silent exm122639 1 169825074 [T/C] NM_181093,NM_020423 SCYL3,SCYL3 EXON Missense_S446N,Silent exm122640 1 169825081 [T/C] NM_181093,NM_020423 SCYL3,SCYL3 EXON Missense_V444I,Silent exm122641 1 169825090 [T/C] NM_181093,NM_020423 SCYL3,SCYL3 EXON Missense_M441V,Silent exm122650 1 169831884 [T/C] NM_181093,NM_020423 SCYL3,SCYL3 EXON Missense_R337Q,Missense_R337Q exm122651 1 169831885 [A/G] NM_181093,NM_020423 SCYL3,SCYL3 EXON Missense_R337W,Missense_R337W exm122663 1 169839471 [A/G] NM_181093,NM_020423 SCYL3,SCYL3 EXON Missense_C184R,Missense_C184R exm122668 1 169842839 [A/T] NM_181093,NM_020423 SCYL3,SCYL3 EXON Missense_M174L,Missense_M174L exm122672 1 169845195 [A/G] NM_181093,NM_020423 SCYL3,SCYL3 EXON Missense_V130A,Missense_V130A exm122689 1 169890903 [T/C] NM_014970,NM_001204517,NM_001204516,NM_001204514 KIFAP3,KIFAP3,KIFAP3,KIFAP3 EXON Missense_G765S,Missense_G725S,Missense_G721S,Missense_G687S exm122698 1 169930214 [T/C] NM_014970,NM_001204517,NM_001204516,NM_001204514 KIFAP3,KIFAP3,KIFAP3,KIFAP3 EXON Missense_E716K,Missense_E676K,Missense_E672K,Missense_E638K exm122706 1 169951967 [T/A] NM_014970,NM_001204517,NM_001204516,NM_001204514 KIFAP3,KIFAP3,KIFAP3,KIFAP3 EXON Missense_E516D,Missense_E476D,Missense_E472D,Missense_E438D exm2250222 1 169951997 [T/C] NM_014970,NM_001204517,NM_001204516,NM_001204514 KIFAP3,KIFAP3,KIFAP3,KIFAP3 EXON Synonymous_G506G,Synonymous_G466G,Synonymous_G462G,Synonymous_G428G exm122715 1 169953815 [A/C] NM_014970,NM_001204517,NM_001204516,NM_001204514 KIFAP3,KIFAP3,KIFAP3,KIFAP3 EXON Missense_F434C,Missense_F394C,Missense_F390C,Missense_F356C exm-rs1541160 1 169995802 [T/C] NM_014970,NM_001204517,NM_001204516,NM_001204514 KIFAP3,KIFAP3,KIFAP3,KIFAP3 Silent,Silent,Silent,Silent exm1734074 1 170007557 [T/C] NM_014970,NM_001204517,NM_001204516,NM_001204514 KIFAP3,KIFAP3,KIFAP3,KIFAP3 EXON Missense_N131D,Missense_N91D,Missense_N87D,Missense_N53D exm122753 1 170015987 [T/C] NM_014970,NM_001204517,NM_001204516,NM_001204514 KIFAP3,KIFAP3,KIFAP3,KIFAP3 EXON Missense_N62S,Missense_N22S,Missense_N18S,Silent exm2231803 1 170016002 [A/C] NM_014970,NM_001204517,NM_001204516,NM_001204514 KIFAP3,KIFAP3,KIFAP3,KIFAP3 EXON Missense_R57L,Missense_R17L,Missense_R13L,Silent exm122755 1 170024513 [G/C] NM_014970,NM_001204517,NM_001204516,NM_001204514 KIFAP3,KIFAP3,KIFAP3,KIFAP3 EXON Missense_V33L,Silent,Silent,Silent exm122762 1 170115300 [G/C] NM_001136107 METTL11B EXON Missense_D18H exm122764 1 170115331 [T/G] NM_001136107 METTL11B EXON Missense_F28C exm122766 1 170129701 [T/C] NM_001136107 METTL11B EXON Missense_M66T exm122769 1 170129827 [T/C] NM_001136107 METTL11B EXON Missense_F108S exm122771 1 170135646 [T/C] NM_001136107 METTL11B EXON Missense_P112S exm122773 1 170135693 [A/G] NM_001136107 METTL11B EXON Missense_I127M exm122775 1 170135760 [T/C] NM_001136107 METTL11B EXON Missense_S150P exm122781 1 170136672 [A/G] NM_001136107 METTL11B EXON Missense_R209Q exm122788 1 170136876 [T/C] NM_001136107 METTL11B EXON Missense_L277P exm2268946 1 170346406 [T/C] exm122812 1 170508497 [A/G] NR_027397,NM_001146039,NM_152281 GORAB,GORAB,GORAB EXON Silent,Missense_K95E,Missense_K95E exm122833 1 170513949 [T/C] NR_027397,NM_001146039,NM_152281 GORAB,GORAB,GORAB EXON Silent,Missense_R234W,Missense_R234W exm122834 1 170513950 [A/G] NR_027397,NM_001146039,NM_152281 GORAB,GORAB,GORAB EXON Silent,Missense_R234Q,Missense_R234Q exm122839 1 170521158 [A/G] NR_027397,NM_152281 GORAB,GORAB EXON Silent,Missense_K247R exm122841 1 170521163 [T/C] NR_027397,NM_152281 GORAB,GORAB EXON Silent,Missense_F249L exm1734327 1 170521212 [A/G] NR_027397,NM_152281 GORAB,GORAB EXON Silent,Missense_R265H exm122851 1 170521376 [A/G] NR_027397,NM_152281 GORAB,GORAB EXON Silent,Missense_E320K exm122854 1 170521413 [T/G] NR_027397,NM_152281 GORAB,GORAB EXON Silent,Nonsense_L332X exm122864 1 170633397 [T/C] NM_022716,NM_006902 PRRX1,PRRX1 EXON Missense_P13L,Missense_P13L exm122874 1 170688935 [A/G] NM_022716,NM_006902 PRRX1,PRRX1 EXON Missense_S104G,Missense_S104G exm122883 1 170695466 [A/G] NM_022716,NM_006902 PRRX1,PRRX1 EXON Missense_V175M,Missense_V175M exm122892 1 170705189 [A/C] NM_022716,NM_006902 PRRX1,PRRX1 EXON Missense_S200R,Silent exm122896 1 170705229 [T/C] NM_022716,NM_006902 PRRX1,PRRX1 EXON Missense_P214S,Silent exm122898 1 170705313 [T/C] NM_022716,NM_006902 PRRX1,PRRX1 EXON Missense_P242S,Silent exm2250228 1 170727442 [T/C] exm122907 1 170927615 [A/G] NM_001163629,NM_025063 MROH9,MROH9 EXON Missense_N29S,Missense_N29S exm122912 1 170928652 [T/A] NM_001163629,NM_025063 MROH9,MROH9 EXON Missense_S68T,Missense_S68T exm122913 1 170928671 [T/C] NM_001163629,NM_025063 MROH9,MROH9 EXON Missense_V74A,Missense_V74A exm122916 1 170928730 [A/G] NM_001163629,NM_025063 MROH9,MROH9 EXON Missense_D94N,Missense_D94N exm122921 1 170934292 [A/G] NM_001163629,NM_025063 MROH9,MROH9 EXON Missense_E126K,Missense_E126K exm122922 1 170934301 [A/G] NM_001163629,NM_025063 MROH9,MROH9 EXON Missense_V129M,Missense_V129M exm122923 1 170934311 [A/G] NM_001163629,NM_025063 MROH9,MROH9 EXON Missense_S132N,Missense_S132N exm122925 1 170934394 [T/C] NM_001163629,NM_025063 MROH9,MROH9 EXON Missense_Y160H,Missense_Y160H exm122934 1 170941013 [A/G] NM_001163629,NM_025063 MROH9,MROH9 EXON Missense_R202Q,Missense_R202Q exm122935 1 170941023 [T/C] NM_001163629,NM_025063 MROH9,MROH9 EXON Synonymous_N205N,Synonymous_N205N exm122942 1 170952626 [T/C] NM_001163629,NM_025063 MROH9,MROH9 EXON Missense_V227A,Missense_V227A exm122943 1 170952628 [A/G] NM_001163629,NM_025063 MROH9,MROH9 EXON Missense_E228K,Missense_E228K exm122944 1 170952652 [A/C] NM_001163629,NM_025063 MROH9,MROH9 EXON Missense_Q236K,Missense_Q236K exm122954 1 170959067 [T/G] NM_001163629,NM_025063 MROH9,MROH9 EXON Missense_Q317H,Missense_Q317H exm122957 1 170959137 [A/G] NM_001163629,NM_025063 MROH9,MROH9 EXON Missense_A341T,Missense_A341T exm122959 1 170961328 [T/C] NM_001163629,NM_025063 MROH9,MROH9 EXON Missense_A351V,Missense_A351V exm122961 1 170961360 [A/G] NM_001163629,NM_025063 MROH9,MROH9 EXON Missense_V362M,Missense_V362M exm122966 1 170961433 [A/G] NM_001163629,NM_025063 MROH9,MROH9 EXON Missense_R386H,Missense_R386H exm122968 1 170964537 [A/T] NM_001163629,NM_025063 MROH9,MROH9 EXON Missense_Q401L,Missense_Q401L exm1734423 1 170964609 [T/C] NM_001163629,NM_025063 MROH9,MROH9 EXON Missense_T425M,Missense_T425M exm122973 1 170964656 [C/G] NM_001163629,NM_025063 MROH9,MROH9 EXON Missense_L441V,Missense_L441V exm122977 1 170965662 [T/C] NM_001163629,NM_025063 MROH9,MROH9 EXON Missense_A451V,Missense_A451V exm122981 1 170965700 [A/G] NM_001163629,NM_025063 MROH9,MROH9 EXON Missense_V464M,Missense_V464M exm122984 1 170965751 [C/G] NM_001163629,NM_025063 MROH9,MROH9 EXON Missense_L481V,Missense_L481V exm122993 1 170967395 [A/G] NM_001163629,NM_025063 MROH9,MROH9 EXON Missense_V526I,Missense_V526I exm122997 1 170967494 [A/G] NM_001163629,NM_025063 MROH9,MROH9 EXON Silent,Missense_V559I exm123005 1 170985430 [T/G] NM_001163629 MROH9 EXON Missense_S621A exm123007 1 170985471 [T/G] NM_001163629 MROH9 EXON Missense_M634I exm123008 1 170993566 [C/G] NM_001163629 MROH9 EXON Missense_R647G exm123009 1 170993803 [T/C] NM_001163629 MROH9 EXON Missense_T692I exm123015 1 171033252 [T/C] NM_001163629 MROH9 EXON Missense_L786P exm1734444 1 171072965 [A/G] NM_001002294,NM_006894 FMO3,FMO3 EXON Missense_V58I,Missense_V58I exm1734449 1 171076835 [A/G] NM_001002294,NM_006894 FMO3,FMO3 EXON Missense_N114S,Missense_N114S exm123035 1 171076888 [G/C] NM_001002294,NM_006894 FMO3,FMO3 EXON Missense_D132H,Missense_D132H exm123041 1 171076952 [T/C] NM_001002294,NM_006894 FMO3,FMO3 EXON Missense_P153L,Missense_P153L exm123042 1 171076966 [A/G] NM_001002294,NM_006894 FMO3,FMO3 EXON Missense_E158K,Missense_E158K exm123048 1 171077292 [A/G] NM_001002294,NM_006894 FMO3,FMO3 EXON Missense_R186H,Missense_R186H exm2231808 1 171077348 [T/C] NM_001002294,NM_006894 FMO3,FMO3 EXON Missense_R205C,Missense_R205C exm123062 1 171080080 [A/G] NM_001002294,NM_006894 FMO3,FMO3 EXON Missense_V257M,Missense_V257M exm123064 1 171083149 [T/C] NM_001002294,NM_006894 FMO3,FMO3 EXON Missense_V277A,Missense_V277A exm123079 1 171083398 [T/C] NM_001002294,NM_006894 FMO3,FMO3 EXON Missense_L360P,Missense_L360P exm123084 1 171085368 [A/G] NM_001002294,NM_006894 FMO3,FMO3 EXON Missense_M402V,Missense_M402V exm123086 1 171085386 [T/G] NM_001002294,NM_006894 FMO3,FMO3 EXON Missense_D408Y,Missense_D408Y exm123088 1 171085414 [A/G] NM_001002294,NM_006894 FMO3,FMO3 EXON Missense_R417H,Missense_R417H exm123093 1 171086457 [T/C] NM_001002294,NM_006894 FMO3,FMO3 EXON Missense_R492W,Missense_R492W exm123099 1 171086488 [T/G] NM_001002294,NM_006894 FMO3,FMO3 EXON Missense_V502G,Missense_V502G exm2264917 1 171139823 [A/G] exm2268947 1 171151991 [T/G] exm123130 1 171162516 [A/G] NM_001460 FMO2 EXON Missense_V59I exm123134 1 171162583 [T/C] NM_001460 FMO2 EXON Missense_F81S exm123146 1 171168497 [T/C] NM_001460 FMO2 EXON Missense_F166S exm123148 1 171168521 [A/G] NM_001460 FMO2 EXON Missense_R174H exm123149 1 171168545 [T/C] NM_001460 FMO2 EXON Missense_F182S exm123152 1 171168584 [T/C] NM_001460 FMO2 EXON Missense_S195L exm123156 1 171173044 [A/G] NM_001460 FMO2 EXON Missense_R223H exm123157 1 171173058 [A/G] NM_001460 FMO2 EXON Missense_G228S exm123159 1 171173089 [A/G] NM_001460 FMO2 EXON Missense_R238Q exm123162 1 171173121 [T/C] NM_001460 FMO2 EXON Nonsense_R249X exm123164 1 171173160 [T/C] NM_001460 FMO2 EXON Missense_R262W exm123168 1 171174462 [A/G] NM_001460 FMO2 EXON Missense_R291H exm123172 1 171174531 [A/G] NM_001460 FMO2 EXON Missense_E314G exm123191 1 171176912 [T/G] NM_001460 FMO2 EXON Missense_N413K exm123195 1 171177968 [A/C] NM_001460 FMO2 EXON Missense_N431T exm123200 1 171178002 [G/C] NM_001460 FMO2 EXON Missense_E442D exm123207 1 171178090 [T/C] NM_001460 FMO2 EXON Missense_X472Q exm123223 1 171236840 [G/C] NM_002021 FMO1 EXON Missense_H97Q exm2231813 1 171244603 [C/G] NM_002021 FMO1 EXON Missense_T147S exm2250233 1 171249957 [A/G] NM_002021 FMO1 EXON Synonymous_V220V exm123239 1 171250000 [T/C] NM_002021 FMO1 EXON Missense_F235L exm123243 1 171250049 [T/C] NM_002021 FMO1 EXON Missense_I251T exm123251 1 171251197 [T/C] NM_002021 FMO1 EXON Missense_I303T exm123255 1 171251278 [A/G] NM_002021 FMO1 EXON Missense_G330E exm123259 1 171251367 [T/C] NM_002021 FMO1 EXON Missense_H360Y exm123260 1 171251407 [A/G] NM_002021 FMO1 EXON Missense_K373R exm123262 1 171251421 [T/A] NM_002021 FMO1 EXON Missense_M378L exm123271 1 171254471 [A/G] NM_002021 FMO1 EXON Missense_V463I exm123275 1 171254588 [T/C] NM_002021 FMO1 EXON Nonsense_R502X exm-rs6660565 1 171261193 [A/G] exm123284 1 171289074 [T/C] NM_002022 FMO4 EXON Missense_I37T exm2231814 1 171293301 [T/C] NM_002022 FMO4 EXON Missense_R116C exm123303 1 171300853 [A/G] NM_002022 FMO4 EXON Missense_V187I exm123305 1 171300908 [A/G] NM_002022 FMO4 EXON Missense_R205Q exm123310 1 171301882 [T/A] NM_002022 FMO4 EXON Missense_L221H exm123313 1 171301888 [A/G] NM_002022 FMO4 EXON Missense_R223H exm123314 1 171301954 [A/G] NM_002022 FMO4 EXON Missense_Q245R exm1734667 1 171301968 [T/C] NM_002022 FMO4 EXON Missense_R250C exm123325 1 171303737 [C/G] NM_002022 FMO4 EXON Missense_E339Q exm123327 1 171303810 [T/C] NM_002022 FMO4 EXON Missense_A363V exm123328 1 171303818 [C/G] NM_002022 FMO4 EXON Missense_A366P exm123337 1 171310562 [A/C] NM_002022 FMO4 EXON Missense_K421Q exm123348 1 171310775 [A/G] NM_002022 FMO4 EXON Missense_R492G exm123352 1 171310844 [T/G] NM_002022 FMO4 EXON Missense_L515V exm123354 1 171310901 [T/C] NM_002022 FMO4 EXON Missense_S534P exm123379 1 171486912 [A/G] NM_015172 PRRC2C EXON Missense_A235T exm123380 1 171486939 [A/G] NM_015172 PRRC2C EXON Missense_M244V exm123388 1 171492641 [C/G] NM_015172 PRRC2C EXON Missense_N343K exm123395 1 171496928 [A/G] NM_015172 PRRC2C Silent exm123405 1 171501752 [A/G] NM_015172 PRRC2C EXON Missense_R507G exm123411 1 171504600 [A/G] NM_015172 PRRC2C EXON Missense_N634S exm123417 1 171505241 [A/C] NM_015172 PRRC2C EXON Missense_P704Q exm123421 1 171505321 [A/G] NM_015172 PRRC2C EXON Missense_M731V exm123426 1 171506404 [A/G] NM_015172 PRRC2C EXON Missense_M764V exm123430 1 171506506 [A/G] NM_015172 PRRC2C EXON Missense_I798V exm123440 1 171509327 [A/G] NM_015172 PRRC2C EXON Missense_A906T exm123443 1 171509373 [A/G] NM_015172 PRRC2C EXON Missense_R921Q exm123444 1 171509414 [C/G] NM_015172 PRRC2C EXON Missense_P935A exm123445 1 171509415 [T/C] NM_015172 PRRC2C EXON Missense_P935L exm123446 1 171509454 [A/G] NM_015172 PRRC2C EXON Missense_K948R exm123447 1 171509486 [T/C] NM_015172 PRRC2C EXON Missense_P959S exm123454 1 171509732 [A/G] NM_015172 PRRC2C EXON Missense_K1041E exm123478 1 171510363 [A/T] NM_015172 PRRC2C EXON Missense_F1251Y exm123484 1 171510590 [A/G] NM_015172 PRRC2C EXON Missense_D1327N exm123485 1 171510660 [A/G] NM_015172 PRRC2C EXON Missense_R1350H exm123487 1 171510692 [T/C] NM_015172 PRRC2C EXON Missense_R1361C exm123488 1 171510693 [C/G] NM_015172 PRRC2C EXON Missense_R1361P exm123489 1 171510707 [C/G] NM_015172 PRRC2C EXON Missense_R1366G exm123498 1 171511025 [G/C] NM_015172 PRRC2C EXON Missense_L1472V exm123502 1 171511139 [G/C] NM_015172 PRRC2C EXON Missense_E1510Q exm123515 1 171514764 [T/G] NM_015172 PRRC2C EXON Missense_G1635V exm123521 1 171526416 [A/G] NM_015172 PRRC2C EXON Missense_S1720N exm123546 1 171526910 [A/G] NM_015172 PRRC2C EXON Missense_A1885T exm123555 1 171527237 [A/G] NM_015172 PRRC2C EXON Missense_N1994D exm123569 1 171535926 [A/G] NM_015172 PRRC2C EXON Missense_T2166A exm123572 1 171537387 [T/A] NM_015172 PRRC2C EXON Missense_E2185V exm123583 1 171544199 [A/G] NM_015172 PRRC2C EXON Missense_N2294S exm123597 1 171553210 [A/G] NM_015172 PRRC2C EXON Missense_G2507S exm123602 1 171553625 [A/G] NM_015172 PRRC2C EXON Missense_N2568S exm123607 1 171556322 [T/G] NM_015172 PRRC2C EXON Missense_A2642S exm123611 1 171556829 [A/G] NM_015172 PRRC2C EXON Missense_I2669V exm123622 1 171557600 [A/G] NM_015172 PRRC2C EXON Missense_T2717A exm123635 1 171605081 [T/C] NM_000261 MYOC EXON Missense_K500R exm123639 1 171605246 [A/G] NM_000261 MYOC EXON Missense_A445V exm1734781 1 171605522 [A/G] NM_000261 MYOC EXON Missense_T353I exm123650 1 171605526 [T/C] NM_000261 MYOC EXON Missense_E352K exm123658 1 171605673 [T/G] NM_000261 MYOC EXON Missense_L303I exm123662 1 171605702 [T/G] NM_000261 MYOC EXON Missense_T293K exm123667 1 171605813 [A/G] NM_000261 MYOC EXON Missense_T256M exm123671 1 171607833 [A/C] NM_000261 MYOC EXON Missense_F212V exm123672 1 171607843 [C/G] NM_000261 MYOC EXON Missense_D208E exm123679 1 171621297 [A/G] NM_000261 MYOC EXON Missense_L152P exm123680 1 171621312 [T/C] NM_000261 MYOC EXON Missense_R147Q exm123682 1 171621375 [T/C] NM_000261 MYOC EXON Missense_R126Q exm123683 1 171621376 [A/G] NM_000261 MYOC EXON Missense_R126W exm123690 1 171621507 [T/C] NM_000261 MYOC EXON Missense_R82H exm1734797 1 171621616 [A/G] NM_000261 MYOC EXON Nonsense_R46X exm2231819 1 171621695 [A/C] NM_000261 MYOC EXON Missense_Q19H exm1734798 1 171621718 [G/C] NM_000261 MYOC EXON Missense_G12R exm123706 1 171678827 [T/C] NM_001185127,NR_033704,NM_003762 VAMP4,VAMP4,VAMP4 EXON Missense_Q107R,Silent,Missense_Q108R exm1734815 1 171688351 [A/G] NM_001185127,NR_033704,NM_003762 VAMP4,VAMP4,VAMP4 EXON Missense_S41P,Silent,Missense_S42P exm123713 1 171707490 [G/C] NM_001185127,NR_033704,NM_003762 VAMP4,VAMP4,VAMP4 EXON Missense_R22T,Silent,Missense_R22T exm123727 1 171753039 [A/G] NM_014955,NM_001007239,NM_015935 METTL13,METTL13,METTL13 EXON Missense_M19V,Missense_M105V,Missense_M105V exm123732 1 171753241 [A/G] NM_014955,NM_001007239,NM_015935 METTL13,METTL13,METTL13 EXON Missense_G86D,Silent,Missense_G172D exm1734943 1 171753456 [A/G] NM_014955,NM_001007239,NM_015935 METTL13,METTL13,METTL13 EXON Missense_E158K,Silent,Missense_E244K exm123755 1 171753612 [T/C] NM_014955,NM_001007239,NM_015935 METTL13,METTL13,METTL13 EXON Missense_R210W,Silent,Missense_R296W exm123761 1 171755071 [A/G] NM_014955,NM_001007239,NM_015935 METTL13,METTL13,METTL13 EXON Synonymous_K236K,Synonymous_K166K,Synonymous_K322K exm2250237 1 171755071 [A/G] NM_014955,NM_001007239,NM_015935 METTL13,METTL13,METTL13 EXON Synonymous_K236K,Synonymous_K166K,Synonymous_K322K exm123765 1 171755180 [T/A] NM_014955,NM_001007239,NM_015935 METTL13,METTL13,METTL13 EXON Missense_M273L,Missense_M203L,Missense_M359L exm123766 1 171755182 [A/G] NM_014955,NM_001007239,NM_015935 METTL13,METTL13,METTL13 EXON Missense_M273I,Missense_M203I,Missense_M359I exm123767 1 171755199 [G/C] NM_014955,NM_001007239,NM_015935 METTL13,METTL13,METTL13 EXON Missense_G279A,Missense_G209A,Missense_G365A exm123773 1 171756954 [A/G] NM_014955,NM_001007239,NM_015935 METTL13,METTL13,METTL13 EXON Missense_Y312C,Missense_Y242C,Missense_Y398C exm123782 1 171759627 [T/C] NM_014955,NM_001007239,NM_015935 METTL13,METTL13,METTL13 EXON Missense_R363W,Missense_R293W,Missense_R449W exm123786 1 171761155 [A/G] NM_014955,NM_001007239,NM_015935 METTL13,METTL13,METTL13 Silent,Silent,Silent exm123799 1 171763595 [A/C] NM_014955,NM_001007239,NM_015935 METTL13,METTL13,METTL13 EXON Missense_M499L,Missense_M429L,Missense_M585L exm123802 1 171763662 [A/C] NM_014955,NM_001007239,NM_015935 METTL13,METTL13,METTL13 EXON Missense_P521H,Missense_P451H,Missense_P607H exm123804 1 171765628 [T/C] NM_014955,NM_001007239,NM_015935 METTL13,METTL13,METTL13 EXON Missense_F525S,Missense_F455S,Missense_F611S exm2250238 1 171805322 [A/G] exm123838 1 172002280 [A/G] NM_015569,NM_001136127 DNM3,DNM3 EXON Missense_I242V,Missense_I242V exm-rs17346452 1 172053287 [T/C] NM_015569,NM_001136127 DNM3,DNM3 Silent,Silent exm-rs678962 1 172189889 [T/G] NM_015569,NM_001136127 DNM3,DNM3 Silent,Silent exm2265057 1 172206026 [A/G] NM_015569,NM_001136127 DNM3,DNM3 Silent,Silent exm-rs1011731 1 172346548 [A/G] NM_015569,NM_001136127 DNM3,DNM3 Silent,Silent exm123895 1 172356367 [A/G] NM_015569,NM_001136127 DNM3,DNM3 EXON Missense_R718H,Missense_R714H exm123917 1 172410967 [A/G] NM_139240,NM_153747,NM_002642 C1orf105,PIGC,PIGC EXON Silent,Missense_P266S,Missense_P266S exm123930 1 172411318 [T/C] NM_139240,NM_153747,NM_002642 C1orf105,PIGC,PIGC EXON Silent,Missense_I149V,Missense_I149V exm123933 1 172411374 [A/G] NM_139240,NM_153747,NM_002642 C1orf105,PIGC,PIGC EXON Silent,Missense_T130I,Missense_T130I exm123934 1 172411433 [A/C] NM_139240,NM_153747,NM_002642 C1orf105,PIGC,PIGC EXON Silent,Missense_K110N,Missense_K110N exm123936 1 172411455 [A/G] NM_139240,NM_153747,NM_002642 C1orf105,PIGC,PIGC EXON Silent,Missense_I103T,Missense_I103T exm123940 1 172411516 [A/G] NM_139240,NM_153747,NM_002642 C1orf105,PIGC,PIGC EXON Silent,Missense_H83Y,Missense_H83Y exm1735421 1 172411518 [A/G] NM_139240,NM_153747,NM_002642 C1orf105,PIGC,PIGC EXON Silent,Missense_P82L,Missense_P82L exm123945 1 172411702 [A/G] NM_139240,NM_153747,NM_002642 C1orf105,PIGC,PIGC EXON Silent,Nonsense_R21X,Nonsense_R21X exm123948 1 172414269 [A/C] NM_139240 C1orf105 EXON Missense_N26K exm2231826 1 172417598 [T/C] NM_139240 C1orf105 EXON Missense_A42V exm123964 1 172431337 [A/G] NM_139240 C1orf105 EXON Missense_K98R exm123967 1 172431386 [A/G] NM_139240 C1orf105 Silent exm123969 1 172434450 [A/C] NM_139240 C1orf105 EXON Missense_H118P exm2268784 1 172434812 [T/C] NM_139240 C1orf105 Silent exm123971 1 172437592 [A/G] NM_139240 C1orf105 EXON Missense_S137N exm124001 1 172520692 [A/G] NM_014283,NM_016227 SUCO,SUCO EXON Missense_A35T,Missense_A35T exm124010 1 172525037 [T/C] NM_014283,NM_016227 SUCO,SUCO EXON Missense_P106L,Missense_P69L exm124025 1 172526875 [A/G] NM_014283,NM_016227 SUCO,SUCO EXON Missense_E225K,Missense_E188K exm124026 1 172526879 [A/G] NM_014283,NM_016227 SUCO,SUCO EXON Missense_Q226R,Missense_Q189R exm124043 1 172544716 [A/G] NM_014283,NM_016227 SUCO,SUCO EXON Missense_V406I,Missense_V369I exm124053 1 172548342 [A/G] NM_014283,NM_016227 SUCO,SUCO EXON Missense_D478G,Missense_D434G exm124054 1 172548377 [T/C] NM_014283,NM_016227 SUCO,SUCO EXON Missense_S490P,Missense_S446P exm124064 1 172558060 [A/C] NM_014283,NM_016227 SUCO,SUCO EXON Missense_P607T,Missense_P563T exm124068 1 172558187 [A/G] NM_014283,NM_016227 SUCO,SUCO EXON Missense_R649Q,Missense_R605Q exm124071 1 172558244 [T/C] NM_014283,NM_016227 SUCO,SUCO EXON Missense_L668P,Missense_L624P exm124082 1 172558594 [A/G] NM_014283,NM_016227 SUCO,SUCO EXON Missense_S785G,Missense_S741G exm124110 1 172571866 [C/G] NM_014283,NM_016227 SUCO,SUCO EXON Missense_L1068F,Missense_L1024F exm124133 1 172579244 [T/C] NM_014283,NM_016227 SUCO,SUCO EXON Nonsense_R1204X,Nonsense_R1160X exm2250250 1 172615395 [T/C] exm2250251 1 172628449 [A/G] NM_000639 FASLG EXON Synonymous_V36V exm124156 1 172628621 [T/G] NM_000639 FASLG EXON Missense_L94V exm124160 1 172629250 [A/C] NM_000639 FASLG EXON Missense_H122N exm2268948 1 172668340 [T/C] exm-rs10218696 1 172823534 [A/G] exm-rs7517810 1 172853460 [T/C] exm-rs9286879 1 172862234 [A/G] exm-rs12035082 1 172898377 [T/C] exm124188 1 173010569 [A/C] NM_005092 TNFSF18 EXON Missense_V180F exm124198 1 173010811 [A/G] NM_005092 TNFSF18 EXON Missense_P99L exm124210 1 173020073 [A/T] NM_005092 TNFSF18 EXON Nonsense_C10X exm124218 1 173155860 [T/C] NM_003326 TNFSF4 EXON Missense_S116N exm124219 1 173155960 [T/C] NM_003326 TNFSF4 EXON Missense_D83N exm-rs2205960 1 173191475 [T/G] exm-rs1342038 1 173301516 [A/G] NR_037845 LOC100506023 Silent exm-rs10798269 1 173309713 [A/G] NR_037845 LOC100506023 Silent exm2264920 1 173408212 [A/G] NR_037845 LOC100506023 Silent exm124258 1 173455511 [T/A] NM_004905 PRDX6 EXON Nonsense_K173X exm124263 1 173456935 [T/C] NM_004905 PRDX6 EXON Missense_P203L exm124274 1 173472465 [A/G] NM_178527 SLC9C2 EXON Missense_A1104V exm124279 1 173475997 [C/G] NM_178527 SLC9C2 EXON Missense_Q1075E exm124289 1 173478829 [T/C] NM_178527 SLC9C2 EXON Missense_I973V exm124294 1 173486716 [T/C] NM_178527 SLC9C2 EXON Missense_R956H exm124309 1 173494019 [T/G] NM_178527 SLC9C2 EXON Missense_K805Q exm124310 1 173494045 [T/C] NM_178527 SLC9C2 EXON Missense_R796H exm124311 1 173494059 [T/C] NM_178527 SLC9C2 EXON Missense_M791I exm124315 1 173495803 [T/A] NM_178527 SLC9C2 EXON Missense_L788F exm2250265 1 173502831 [A/G] NM_178527 SLC9C2 EXON Synonymous_L694L exm124335 1 173516871 [C/G] NM_178527 SLC9C2 EXON Missense_A505G exm124343 1 173517547 [A/G] NM_178527 SLC9C2 EXON Missense_T481M exm124349 1 173526484 [T/G] NM_178527 SLC9C2 EXON Missense_Q404K exm124350 1 173526508 [T/C] NM_178527 SLC9C2 EXON Missense_A396T exm124351 1 173526520 [T/C] NM_178527 SLC9C2 EXON Missense_V392I exm1736236 1 173551091 [A/G] NM_178527 SLC9C2 EXON Missense_Y233H exm124365 1 173551133 [T/C] NM_178527 SLC9C2 EXON Missense_I219V exm2250266 1 173552703 [A/G] NM_178527 SLC9C2 EXON Synonymous_I194I exm124375 1 173556912 [T/C] NM_178527 SLC9C2 EXON Missense_V139I exm124378 1 173567046 [G/C] NM_178527 SLC9C2 EXON Missense_W118C exm124387 1 173570818 [A/G] NM_178527 SLC9C2 EXON Missense_T33M exm2259857 1 173579034 [T/C] NM_198493 ANKRD45 EXON Silent exm124395 1 173594022 [T/C] NM_198493 ANKRD45 EXON Missense_E212K exm124396 1 173594043 [A/G] NM_198493 ANKRD45 EXON Missense_R205C exm124398 1 173596257 [A/T] NM_198493 ANKRD45 EXON Missense_L180I exm124406 1 173616057 [A/G] NM_198493 ANKRD45 EXON Missense_R142W exm124407 1 173616096 [G/C] NM_198493 ANKRD45 EXON Missense_L129V exm124417 1 173628509 [T/G] NM_198493 ANKRD45 EXON Missense_Q17K exm124419 1 173628528 [C/G] NM_198493 ANKRD45 EXON Missense_E10D exm124420 1 173628536 [C/G] NM_198493 ANKRD45 EXON Missense_E8Q exm124421 1 173628546 [T/A] NM_198493 ANKRD45 EXON Missense_E4D exm124426 1 173702857 [T/C] NM_014458 KLHL20 EXON Missense_T10I exm124446 1 173721013 [T/G] NM_014458 KLHL20 EXON Missense_M236I exm2250269 1 173722399 [T/C] NM_014458 KLHL20 EXON Synonymous_V268V exm124477 1 173772147 [T/C] NM_033319,NM_001127181,NM_001171182 CENPL,CENPL,CENPL EXON Missense_R306H,Missense_R352H,Missense_R306H exm124480 1 173772210 [T/C] NM_033319,NM_001127181,NM_001171182 CENPL,CENPL,CENPL EXON Missense_D285G,Missense_D331G,Missense_D285G exm124485 1 173772298 [T/C] NM_033319,NM_001127181,NM_001171182 CENPL,CENPL,CENPL EXON Missense_I256V,Missense_I302V,Missense_I256V exm124486 1 173772302 [A/G] NM_033319,NM_001127181,NM_001171182 CENPL,CENPL,CENPL EXON Synonymous_F254F,Synonymous_F300F,Synonymous_F254F exm124487 1 173772330 [C/G] NM_033319,NM_001127181,NM_001171182 CENPL,CENPL,CENPL EXON Missense_C245S,Missense_C291S,Missense_C245S exm124494 1 173772580 [A/C] NM_033319,NM_001127181,NM_001171182 CENPL,CENPL,CENPL EXON Missense_F162V,Missense_F208V,Missense_F162V exm124505 1 173776476 [A/T] NM_033319,NM_001127181,NM_001171182 CENPL,CENPL,CENPL EXON Missense_I117F,Missense_I117F,Missense_I117F exm124507 1 173776565 [T/C] NM_033319,NM_001127181,NM_001171182 CENPL,CENPL,CENPL EXON Missense_N87S,Missense_N87S,Missense_N87S exm124510 1 173776652 [T/C] NM_033319,NM_001127181,NM_001171182 CENPL,CENPL,CENPL EXON Missense_D58G,Missense_D58G,Missense_D58G exm124512 1 173780338 [T/C] NM_033319,NM_001127181,NM_001171182 CENPL,CENPL,CENPL EXON Missense_V34I,Missense_V34I,Missense_V34I exm124514 1 173780362 [A/G] NM_033319,NM_001127181,NM_001171182 CENPL,CENPL,CENPL EXON Missense_P26S,Missense_P26S,Missense_P26S exm124520 1 173780421 [A/G] NM_033319,NM_001127181,NM_001171182 CENPL,CENPL,CENPL EXON Missense_A6V,Missense_A6V,Missense_A6V exm124527 1 173794458 [A/G] NM_018122 DARS2 EXON Missense_R31G exm124533 1 173795885 [A/G] NM_018122 DARS2 EXON Missense_G63D exm124536 1 173797503 [A/G] NM_018122 DARS2 EXON Missense_D87G exm124541 1 173799877 [A/G] NM_018122 DARS2 EXON Missense_R125H exm124545 1 173800731 [T/G] NM_018122 DARS2 EXON Missense_C152F exm124550 1 173800770 [T/C] NM_018122 DARS2 Silent exm1736460 1 173802601 [A/G] NM_018122 DARS2 EXON Missense_V194I exm124557 1 173802608 [A/G] NM_018122 DARS2 EXON Missense_K196R exm124567 1 173808677 [A/G] NM_018122 DARS2 EXON Missense_G338E exm124568 1 173810011 [A/G] NM_018122 DARS2 EXON Missense_D343G exm124612 1 173839374 [G/C] NM_001122770,NM_032522 ZBTB37,ZBTB37 EXON Missense_G4A,Missense_G4A exm124626 1 173839830 [C/G] NM_001122770,NM_032522 ZBTB37,ZBTB37 EXON Missense_T156R,Missense_T156R exm124629 1 173839884 [A/G] NM_001122770,NM_032522 ZBTB37,ZBTB37 EXON Missense_R174Q,Missense_R174Q exm124645 1 173840253 [A/G] NM_001122770,NM_032522 ZBTB37,ZBTB37 EXON Missense_K297R,Missense_K297R exm124649 1 173842630 [A/C] NM_001122770,NM_032522 ZBTB37,ZBTB37 EXON Missense_P317T,Missense_P317T exm2250272 1 173842668 [T/C] NM_001122770,NM_032522 ZBTB37,ZBTB37 EXON Synonymous_P329P,Synonymous_P329P exm124651 1 173842735 [A/G] NM_001122770,NM_032522 ZBTB37,ZBTB37 EXON Silent,Missense_V352M exm124665 1 173873176 [A/C] NM_000488 SERPINC1 EXON Missense_A416S exm124668 1 173876634 [T/C] NM_000488 SERPINC1 EXON Missense_R391Q exm124671 1 173878720 [T/G] NM_000488 SERPINC1 EXON Missense_L375M exm124696 1 173881122 [T/C] NM_000488 SERPINC1 EXON Missense_T147A exm124701 1 173881134 [T/C] NM_000488 SERPINC1 EXON Missense_I143V exm124709 1 173883788 [A/T] NM_000488 SERPINC1 EXON Missense_D104V exm124711 1 173883863 [T/C] NM_000488 SERPINC1 EXON Missense_R79H exm124712 1 173883881 [A/G] NM_000488 SERPINC1 EXON Missense_P73L exm124717 1 173884010 [A/T] NM_000488 SERPINC1 EXON Missense_V30E exm124736 1 173912593 [T/C] NM_172071 RC3H1 EXON Missense_R1041Q exm124747 1 173915909 [G/C] NM_172071 RC3H1 EXON Missense_P935A exm124748 1 173915951 [T/C] NM_172071 RC3H1 EXON Missense_G921S exm2250275 1 173916589 [A/G] NM_172071 RC3H1 EXON Synonymous_T885T exm124756 1 173916689 [T/C] NM_172071 RC3H1 EXON Missense_R852Q exm124767 1 173930910 [A/G] NM_172071 RC3H1 EXON Missense_Y719H exm124769 1 173930928 [C/G] NM_172071 RC3H1 EXON Missense_Q713E exm124770 1 173930949 [A/G] NM_172071 RC3H1 EXON Missense_P706S exm124818 1 173952711 [A/G] NM_172071 RC3H1 EXON Missense_V146A exm2265058 1 173987798 [A/G] exm2264921 1 174104743 [A/G] exm124832 1 174188338 [G/C] NM_014857 RABGAP1L EXON Missense_D15H exm124837 1 174190170 [A/G] NM_014857 RABGAP1L EXON Missense_E67K exm124855 1 174210684 [T/C] NM_014857 RABGAP1L EXON Synonymous_C202C exm2250277 1 174210684 [T/C] NM_014857 RABGAP1L EXON Synonymous_C202C exm124867 1 174219724 [A/G] NM_014857 RABGAP1L EXON Missense_S277G exm124868 1 174219725 [T/G] NM_014857 RABGAP1L EXON Missense_S277I exm124871 1 174219748 [A/G] NM_014857 RABGAP1L EXON Missense_D285N exm124876 1 174245032 [A/G] NM_014857 RABGAP1L EXON Missense_N372S exm1736806 1 174274224 [A/G] NM_014857 RABGAP1L EXON Missense_G475E exm124896 1 174363257 [A/G] NM_014857 RABGAP1L EXON Missense_D562N exm124911 1 174417616 [T/G] NM_014857,NM_005684 RABGAP1L,GPR52 EXON Silent,Missense_V123F exm124924 1 174418031 [A/G] NM_014857,NM_005684 RABGAP1L,GPR52 EXON Silent,Missense_R261H exm2231878 1 174418138 [A/G] NM_014857,NM_005684 RABGAP1L,GPR52 EXON Silent,Missense_T297A exm124935 1 174418312 [T/C] NM_014857,NM_005684 RABGAP1L,GPR52 EXON Silent,Missense_R355W exm124955 1 174781083 [C/G] NM_014857,NM_001243765 RABGAP1L,RABGAP1L EXON Missense_Q775H,Missense_Q94H exm124960 1 174846693 [A/G] NM_014857,NM_001243765,NM_001243763,NM_001035230 RABGAP1L,RABGAP1L,RABGAP1L,RABGAP1L EXON Silent,Silent,Missense_D21N,Missense_D21N exm124964 1 174926686 [A/G] NM_014857,NM_001243765,NM_001243763,NM_001035230 RABGAP1L,RABGAP1L,RABGAP1L,RABGAP1L EXON Synonymous_K811K,Synonymous_K130K,Synonymous_K68K,Synonymous_K68K exm2268950 1 174951749 [T/C] NM_001243765,NM_001243764 RABGAP1L,RABGAP1L Silent,Silent exm124977 1 174973777 [T/G] NM_001007214,NM_014412 CACYBP,CACYBP EXON Silent,Missense_V15L exm124993 1 174977826 [A/G] NM_001007214,NM_014412 CACYBP,CACYBP EXON Missense_E129K,Missense_E172K exm124999 1 174979171 [G/C] NM_001007214,NM_014412 CACYBP,CACYBP EXON Missense_V172L,Missense_V215L exm2250280 1 174983910 [T/C] NR_037606,NM_022100 MRPS14,MRPS14 EXON Silent,Synonymous_T94T exm125018 1 174987637 [A/G] NR_037606,NM_022100 MRPS14,MRPS14 EXON Silent,Nonsense_R41X exm125033 1 175046557 [T/G] NM_022093 TNN EXON Missense_M1I exm125034 1 175046576 [T/C] NM_022093 TNN EXON Missense_R8C exm125043 1 175046652 [A/G] NM_022093 TNN EXON Missense_C33Y exm125051 1 175046756 [A/G] NM_022093 TNN EXON Missense_D68N exm125060 1 175046826 [A/G] NM_022093 TNN EXON Missense_R91H exm125063 1 175046886 [A/G] NM_022093 TNN EXON Missense_R111Q exm125064 1 175046920 [A/G] NM_022093 TNN EXON Missense_M122I exm2231881 1 175048706 [T/A] NM_022093 TNN EXON Missense_V216E exm125094 1 175048831 [T/G] NM_022093 TNN EXON Missense_D258Y exm125097 1 175049379 [A/G] NM_022093 TNN EXON Missense_D289N exm1737136 1 175049503 [A/C] NM_022093 TNN EXON Missense_T330N exm125102 1 175049514 [A/G] NM_022093 TNN EXON Missense_V334I exm1737139 1 175052942 [A/G] NM_022093 TNN EXON Missense_V369M exm125112 1 175052999 [A/G] NM_022093 TNN EXON Missense_M388V exm125118 1 175054607 [T/C] NM_022093 TNN EXON Missense_P434L exm125119 1 175054626 [T/G] NM_022093 TNN EXON Missense_R440S exm1737146 1 175063127 [A/C] NM_022093 TNN EXON Missense_E442D exm125122 1 175063222 [T/C] NM_022093 TNN EXON Missense_V474A exm125131 1 175066551 [A/T] NM_022093 TNN Silent exm125135 1 175066585 [C/G] NM_022093 TNN EXON Missense_R541G exm125163 1 175067674 [T/G] NM_022093 TNN EXON Missense_V688L exm125172 1 175086153 [A/C] NM_022093 TNN EXON Missense_A733D exm125183 1 175087729 [T/C] NM_022093 TNN EXON Missense_W807R exm125187 1 175087846 [A/G] NM_022093 TNN EXON Missense_E846K exm125203 1 175092637 [T/C] NM_022093 TNN EXON Missense_R918C exm125217 1 175092794 [A/G] NM_022093 TNN EXON Missense_Q970R exm1737186 1 175096130 [T/C] NM_022093 TNN EXON Missense_T985M exm125222 1 175096157 [T/C] NM_022093 TNN EXON Missense_T994M exm2250282 1 175096158 [A/G] NM_022093 TNN EXON Synonymous_T994T exm125234 1 175097264 [T/C] NM_022093 TNN EXON Missense_R1048C exm125236 1 175097299 [A/G] NM_022093 TNN EXON Synonymous_T1059T exm125244 1 175097769 [A/G] NM_022093 TNN EXON Missense_V1073I exm125251 1 175097863 [T/C] NM_022093 TNN EXON Missense_T1104M exm125263 1 175105055 [A/C] NM_022093 TNN EXON Missense_D1135E exm125269 1 175105996 [T/C] NM_022093 TNN EXON Missense_A1156V exm125272 1 175106086 [A/G] NM_022093 TNN EXON Missense_R1186Q exm125275 1 175113607 [T/C] NM_022093 TNN EXON Missense_T1227I exm2273721 1 175116170 [A/G] NM_022093 TNN EXON Missense_K1288R exm125284 1 175116207 [A/G] NM_022093 TNN EXON Missense_X1300W exm-rs6701037 1 175120079 [A/C] exm125303 1 175129888 [A/G] NM_001162895,NM_001162893,NM_014656,NM_001162894 KIAA0040,KIAA0040,KIAA0040,KIAA0040 EXON Missense_L88F,Missense_L88F,Missense_L88F,Missense_L88F exm125308 1 175130119 [T/C] NM_001162895,NM_001162893,NM_014656,NM_001162894 KIAA0040,KIAA0040,KIAA0040,KIAA0040 EXON Missense_I11V,Missense_I11V,Missense_I11V,Missense_I11V exm125313 1 175292499 [A/C] NM_003285 TNR EXON Missense_Q1357H exm1737304 1 175292527 [A/G] NM_003285 TNR EXON Missense_M1348T exm125320 1 175293575 [T/C] NM_003285 TNR EXON Missense_M1292V exm-rs3766680 1 175296448 [T/C] NM_003285 TNR Silent exm125333 1 175299311 [T/C] NM_003285 TNR EXON Missense_R1231Q exm2250285 1 175304941 [T/C] NM_003285 TNR EXON Synonymous_V1179V exm125348 1 175306758 [A/G] NM_003285 TNR EXON Missense_T1147I exm125351 1 175323562 [A/G] NM_003285 TNR EXON Missense_T1116M exm125368 1 175325553 [T/C] NM_003285 TNR EXON Missense_R1007Q exm125371 1 175325586 [A/G] NM_003285 TNR EXON Missense_T996I exm125378 1 175331822 [C/G] NM_003285 TNR EXON Missense_R944P exm125385 1 175331892 [T/C] NM_003285 TNR EXON Missense_T921A exm125386 1 175331918 [A/G] NM_003285 TNR EXON Missense_P912L exm125397 1 175334216 [C/G] NM_003285 TNR EXON Missense_E839D exm125402 1 175334326 [T/C] NM_003285 TNR EXON Missense_R803G exm125404 1 175334409 [T/C] NM_003285 TNR EXON Missense_R775H exm125420 1 175336358 [A/G] NM_003285 TNR EXON Missense_M680T exm125422 1 175336392 [T/C] NM_003285 TNR EXON Missense_V669I exm125429 1 175348715 [G/C] NM_003285 TNR EXON Missense_G646R exm125430 1 175348723 [T/C] NM_003285 TNR EXON Missense_R643K exm125436 1 175348819 [T/G] NM_003285 TNR EXON Missense_D611A exm125438 1 175348849 [C/G] NM_003285 TNR EXON Missense_R601P exm125442 1 175355171 [T/C] NM_003285 TNR EXON Missense_T592A exm125444 1 175355216 [T/C] NM_003285 TNR EXON Missense_V577I exm125449 1 175355251 [T/C] NM_003285 TNR EXON Missense_R565Q exm125457 1 175355368 [A/G] NM_003285 TNR EXON Missense_P526L exm125460 1 175355394 [T/G] NM_003285 TNR EXON Missense_D517E exm125461 1 175355402 [T/C] NM_003285 TNR EXON Missense_V515I exm125475 1 175365772 [A/G] NM_003285 TNR EXON Missense_T383M exm125476 1 175365805 [T/C] NM_003285 TNR EXON Missense_R372Q exm1737391 1 175372315 [T/C] NM_003285 TNR EXON Missense_V313I exm125490 1 175372347 [T/C] NM_003285 TNR EXON Missense_S302N exm125501 1 175372645 [A/G] NM_003285 TNR EXON Missense_Y203H exm125502 1 175372651 [T/C] NM_003285 TNR EXON Missense_E201K exm125504 1 175372714 [T/G] NM_003285 TNR EXON Missense_N180H exm125507 1 175375355 [T/C] NM_003285 TNR EXON Missense_T166A exm125511 1 175375469 [A/C] NM_003285 TNR EXON Missense_A128S exm1737397 1 175375525 [T/C] NM_003285 TNR EXON Missense_E109G exm125517 1 175375540 [T/C] NM_003285 TNR EXON Missense_Q104R exm125518 1 175375545 [A/C] NM_003285 TNR EXON Missense_M102I exm125527 1 175375802 [T/C] NM_003285 TNR EXON Missense_I17V exm125532 1 175375826 [T/C] NM_003285 TNR EXON Missense_V9I exm2250287 1 175387018 [A/G] NM_003285 TNR Silent exm125559 1 176012946 [A/C] NM_022457,NM_001001740 RFWD2,RFWD2 EXON Missense_S477I,Missense_S453I exm125567 1 176050414 [T/C] NM_022457,NM_001001740 RFWD2,RFWD2 EXON Missense_R384Q,Missense_R360Q exm125570 1 176054921 [A/G] NM_022457,NM_001001740 RFWD2,RFWD2 EXON Missense_R378C,Missense_R354C exm125573 1 176104219 [T/C] NM_022457,NM_001001740 RFWD2,RFWD2 EXON Missense_M299V,Missense_M275V exm125576 1 176105631 [G/C] NM_022457,NM_001001740 RFWD2,RFWD2 EXON Missense_R295T,Silent exm125577 1 176118179 [A/G] NM_022457,NM_001001740 RFWD2,RFWD2 EXON Missense_M265T,Missense_M261T exm125578 1 176118187 [C/G] NM_022457,NM_001001740 RFWD2,RFWD2 EXON Missense_Q262H,Missense_Q258H exm1737678 1 176145082 [T/C] NM_022457,NM_001001740 RFWD2,RFWD2 EXON Missense_V177M,Missense_V177M exm125583 1 176145129 [T/C] NM_022457,NM_001001740 RFWD2,RFWD2 EXON Missense_H161R,Missense_H161R exm125589 1 176175819 [A/C] NM_022457,NM_001001740 RFWD2,RFWD2 EXON Missense_V99G,Missense_V99G exm2268787 1 176219438 [T/C] exm2259865 1 176435410 [A/G] NM_021936,NM_020318 PAPPA2,PAPPA2 Silent,Silent exm2268788 1 176521349 [T/G] NM_021936,NM_020318 PAPPA2,PAPPA2 Silent,Silent exm125602 1 176525585 [A/G] NM_021936,NM_020318 PAPPA2,PAPPA2 EXON Missense_V43M,Missense_V43M exm125603 1 176525591 [T/A] NM_021936,NM_020318 PAPPA2,PAPPA2 EXON Missense_L45M,Missense_L45M exm125608 1 176525784 [T/C] NM_021936,NM_020318 PAPPA2,PAPPA2 EXON Missense_P109L,Missense_P109L exm125609 1 176525828 [A/G] NM_021936,NM_020318 PAPPA2,PAPPA2 EXON Missense_E124K,Missense_E124K exm125614 1 176525970 [G/C] NM_021936,NM_020318 PAPPA2,PAPPA2 EXON Missense_T171S,Missense_T171S exm125630 1 176526195 [A/G] NM_021936,NM_020318 PAPPA2,PAPPA2 EXON Missense_G246D,Missense_G246D exm125636 1 176526264 [A/G] NM_021936,NM_020318 PAPPA2,PAPPA2 EXON Missense_R269Q,Missense_R269Q exm125646 1 176563683 [A/G] NM_021936,NM_020318 PAPPA2,PAPPA2 EXON Missense_T315A,Missense_T315A exm125651 1 176563779 [A/G] NM_021936,NM_020318 PAPPA2,PAPPA2 EXON Missense_V347M,Missense_V347M exm1737825 1 176564076 [A/G] NM_021936,NM_020318 PAPPA2,PAPPA2 EXON Missense_S446G,Missense_S446G exm125662 1 176564092 [T/C] NM_021936,NM_020318 PAPPA2,PAPPA2 EXON Missense_A451V,Missense_A451V exm125663 1 176564113 [T/C] NM_021936,NM_020318 PAPPA2,PAPPA2 EXON Missense_A458V,Missense_A458V exm2231899 1 176564156 [T/G] NM_021936,NM_020318 PAPPA2,PAPPA2 EXON Missense_D472E,Missense_D472E exm125666 1 176564200 [A/T] NM_021936,NM_020318 PAPPA2,PAPPA2 EXON Missense_E487V,Missense_E487V exm125667 1 176564215 [T/C] NM_021936,NM_020318 PAPPA2,PAPPA2 EXON Missense_S492L,Missense_S492L exm125671 1 176564323 [A/T] NM_021936,NM_020318 PAPPA2,PAPPA2 EXON Missense_Q528L,Missense_Q528L exm1737828 1 176564490 [A/G] NM_021936,NM_020318 PAPPA2,PAPPA2 EXON Missense_V584M,Missense_V584M exm125685 1 176640107 [T/G] NM_021936,NM_020318 PAPPA2,PAPPA2 EXON Missense_A665S,Missense_A665S exm125693 1 176659378 [T/A] NM_021936,NM_020318 PAPPA2,PAPPA2 EXON Missense_V748D,Missense_V748D exm125700 1 176659510 [T/C] NM_021936,NM_020318 PAPPA2,PAPPA2 EXON Missense_T792I,Missense_T792I exm125701 1 176659527 [T/C] NM_021936,NM_020318 PAPPA2,PAPPA2 EXON Missense_F798L,Missense_F798L exm2231902 1 176661361 [T/C] NM_020318 PAPPA2 EXON Missense_T844I exm125720 1 176664947 [T/C] NM_020318 PAPPA2 EXON Missense_R900W exm125728 1 176668328 [T/C] NM_020318 PAPPA2 EXON Missense_P947S exm125730 1 176668379 [A/G] NM_020318 PAPPA2 EXON Missense_D964N exm125738 1 176668542 [T/C] NM_020318 PAPPA2 EXON Missense_S1018L exm125750 1 176671843 [T/C] NM_020318 PAPPA2 EXON Missense_P1113S exm2231906 1 176679141 [A/G] NM_020318 PAPPA2 EXON Missense_M1160I exm125760 1 176679157 [A/G] NM_020318 PAPPA2 EXON Missense_I1166V exm125762 1 176679242 [A/G] NM_020318 PAPPA2 EXON Missense_R1194Q exm125763 1 176679311 [T/C] NM_020318 PAPPA2 EXON Missense_L1217P exm125772 1 176681116 [A/G] NM_020318 PAPPA2 EXON Missense_K1266R exm125775 1 176708801 [A/G] NM_020318 PAPPA2 EXON Missense_I1280V exm125791 1 176709189 [C/G] NM_020318 PAPPA2 EXON Missense_H1336Q exm125794 1 176709232 [A/G] NM_020318 PAPPA2 EXON Missense_G1351S exm125798 1 176709309 [C/G] NM_020318 PAPPA2 EXON Missense_E1376D exm125807 1 176734961 [C/G] NM_020318 PAPPA2 EXON Missense_I1437M exm125808 1 176738779 [A/G] NM_020318 PAPPA2 EXON Missense_D1454N exm125819 1 176740180 [T/G] NM_020318 PAPPA2 EXON Missense_A1527S exm125827 1 176760483 [T/C] NM_020318 PAPPA2 EXON Missense_L1629F exm1737975 1 176762710 [A/C] NM_020318 PAPPA2 EXON Missense_P1679T exm-rs1325598 1 176792249 [A/G] NM_020318 PAPPA2 Silent exm125846 1 176833427 [T/C] NM_004319 ASTN1 EXON Missense_E1293G exm125847 1 176833455 [G/C] NM_004319 ASTN1 EXON Missense_P1284A exm125849 1 176833481 [A/G] NM_004319 ASTN1 EXON Missense_T1275M exm125850 1 176833486 [C/G] NM_004319 ASTN1 EXON Missense_R1273S exm125851 1 176833497 [G/C] NM_004319 ASTN1 EXON Missense_R1270G exm125855 1 176833571 [T/C] NM_004319 ASTN1 EXON Missense_R1245H exm1738047 1 176845738 [T/C] NM_004319,NM_207108 ASTN1,ASTN1 EXON Missense_R1133H,Missense_R1133H exm125871 1 176852023 [A/G] NM_004319,NM_207108 ASTN1,ASTN1 EXON Nonsense_R1112X,Nonsense_R1112X exm125878 1 176853522 [T/C] NM_004319,NM_207108 ASTN1,ASTN1 EXON Missense_R1060H,Missense_R1060H exm125883 1 176853612 [A/G] NM_004319,NM_207108 ASTN1,ASTN1 EXON Missense_T1030M,Missense_T1030M exm125886 1 176857270 [T/C] NM_004319,NM_207108 ASTN1,ASTN1 EXON Missense_R1004Q,Missense_R1004Q exm2231911 1 176857291 [A/T] NM_004319,NM_207108 ASTN1,ASTN1 EXON Missense_D997V,Missense_D997V exm125893 1 176863777 [A/G] NM_004319,NM_207108 ASTN1,ASTN1 EXON Missense_T954I,Missense_T954I exm125899 1 176863867 [T/C] NM_004319,NM_207108 ASTN1,ASTN1 EXON Missense_H924R,Missense_H924R exm125907 1 176903378 [T/C] NM_004319,NM_207108 ASTN1,ASTN1 EXON Missense_I861V,Missense_I861V exm125911 1 176903467 [T/C] NM_004319,NM_207108 ASTN1,ASTN1 EXON Missense_N831S,Missense_N831S exm125923 1 176915074 [T/G] NM_004319,NM_207108 ASTN1,ASTN1 EXON Missense_K746T,Missense_K746T exm125925 1 176915087 [T/C] NM_004319,NM_207108 ASTN1,ASTN1 EXON Missense_G742R,Missense_G742R exm125928 1 176915101 [T/C] NM_004319,NM_207108 ASTN1,ASTN1 EXON Missense_K737R,Missense_K737R exm125929 1 176915156 [G/C] NM_004319,NM_207108 ASTN1,ASTN1 EXON Missense_P719A,Missense_P719A exm125931 1 176915162 [T/C] NM_004319,NM_207108 ASTN1,ASTN1 EXON Missense_E717K,Missense_E717K exm125933 1 176915207 [T/C] NM_004319,NM_207108 ASTN1,ASTN1 EXON Missense_I702V,Missense_I702V exm125936 1 176915233 [T/C] NM_004319,NM_207108 ASTN1,ASTN1 EXON Missense_G693D,Missense_G693D exm125941 1 176918480 [T/G] NM_004319,NM_207108 ASTN1,ASTN1 EXON Missense_S632Y,Missense_S632Y exm125944 1 176926816 [T/C] NM_004319,NM_207108 ASTN1,ASTN1 EXON Missense_V629M,Missense_V629M exm125950 1 176926872 [T/C] NM_004319,NM_207108 ASTN1,ASTN1 EXON Missense_G610D,Missense_G610D exm125956 1 176926903 [A/G] NM_004319,NM_207108 ASTN1,ASTN1 EXON Missense_P600S,Missense_P600S exm125981 1 176993779 [T/C] NM_004319,NM_207108 ASTN1,ASTN1 EXON Missense_V404I,Missense_V404I exm2250304 1 176993795 [A/G] NM_004319,NM_207108 ASTN1,ASTN1 EXON Synonymous_L398L,Synonymous_L398L exm126001 1 176999963 [G/C] NM_004319,NM_207108 ASTN1,ASTN1 EXON Missense_R331G,Missense_R331G exm126010 1 177001793 [C/G] NM_004319,NM_207108 ASTN1,ASTN1 EXON Missense_V222L,Missense_V222L exm126026 1 177030223 [G/C] NM_004319,NM_207108 ASTN1,ASTN1 EXON Missense_I154M,Missense_I154M exm126031 1 177030318 [A/G] NM_004319,NM_207108 ASTN1,ASTN1 EXON Missense_H123Y,Missense_H123Y exm126033 1 177030344 [T/C] NM_004319,NM_207108 ASTN1,ASTN1 EXON Missense_E114G,Missense_E114G exm126036 1 177030375 [G/C] NM_004319,NM_207108 ASTN1,ASTN1 EXON Missense_P104A,Missense_P104A exm2268952 1 177091092 [T/C] NM_004319,NM_207108 ASTN1,ASTN1 Silent,Silent exm126051 1 177133639 [T/G] NM_004319,NM_207108 ASTN1,ASTN1 EXON Missense_S58R,Missense_S58R exm2264924 1 177193408 [A/G] NM_021165 FAM5B Silent exm126058 1 177199021 [T/G] NM_021165 FAM5B EXON Missense_W3C exm126060 1 177199049 [T/C] NM_021165 FAM5B EXON Missense_R13W exm126061 1 177199053 [T/C] NM_021165 FAM5B EXON Missense_P14L exm126072 1 177199251 [A/G] NM_021165 FAM5B EXON Missense_Q80R exm126073 1 177199272 [A/G] NM_021165 FAM5B EXON Missense_R87K exm126075 1 177225056 [G/C] NM_021165 FAM5B EXON Missense_E91Q exm126087 1 177226503 [A/G] NM_021165 FAM5B EXON Missense_A218T exm126091 1 177242718 [T/C] NM_021165 FAM5B EXON Missense_V255A exm126096 1 177245370 [A/G] NM_021165 FAM5B EXON Missense_R271H exm126101 1 177245423 [A/G] NM_021165 FAM5B EXON Missense_V289I exm126104 1 177245496 [T/C] NM_021165 FAM5B EXON Missense_I313T exm126117 1 177247854 [G/C] NM_021165 FAM5B EXON Missense_L390V exm126119 1 177247873 [T/A] NM_021165 FAM5B EXON Missense_L396H exm126135 1 177249738 [T/C] NM_021165 FAM5B EXON Missense_R476C exm126154 1 177250197 [A/G] NM_021165 FAM5B EXON Missense_I629V exm126162 1 177250522 [A/G] NM_021165 FAM5B EXON Missense_R737Q exm126164 1 177250549 [A/G] NM_021165 FAM5B EXON Missense_R746Q exm2268789 1 177539967 [T/G] exm-rs633715 1 177852580 [T/C] exm-rs543874 1 177889480 [A/G] exm126176 1 177899030 [T/C] NM_033127 SEC16B EXON Missense_R1049H exm126178 1 177899045 [A/G] NM_033127 SEC16B EXON Missense_L1044P exm1738695 1 177899688 [C/G] NM_033127 SEC16B EXON Missense_V1035L exm126181 1 177899689 [A/C] NM_033127 SEC16B EXON Missense_Q1034H exm126182 1 177899699 [T/C] NM_033127 SEC16B EXON Missense_N1031S exm126194 1 177902368 [A/G] NM_033127 SEC16B EXON Missense_S935L exm126197 1 177902387 [A/C] NM_033127 SEC16B EXON Missense_A929S exm126204 1 177902725 [T/C] NM_033127 SEC16B EXON Missense_S873N exm126207 1 177902753 [G/C] NM_033127 SEC16B EXON Missense_P864A exm126208 1 177905454 [T/G] NM_033127 SEC16B EXON Missense_Q850H exm126209 1 177905469 [A/C] NM_033127 SEC16B EXON Missense_Q845H exm126210 1 177905488 [A/T] NM_033127 SEC16B EXON Missense_V839E exm126217 1 177906437 [A/C] NM_033127 SEC16B EXON Missense_H805Q exm126225 1 177906507 [A/G] NM_033127 SEC16B EXON Missense_S782F exm126232 1 177906621 [C/G] NM_033127 SEC16B EXON Missense_G744A exm126233 1 177906633 [T/G] NM_033127 SEC16B EXON Missense_Q740P exm126236 1 177908852 [T/C] NM_033127 SEC16B EXON Missense_G730R exm126239 1 177908860 [A/G] NM_033127 SEC16B EXON Missense_S727L exm1738723 1 177908893 [A/G] NM_033127 SEC16B EXON Missense_I716T exm126242 1 177909767 [A/G] NM_033127 SEC16B EXON Missense_A702V exm126249 1 177911130 [T/C] NM_033127 SEC16B EXON Missense_V643M exm126250 1 177911150 [T/C] NM_033127 SEC16B EXON Missense_R636H exm126251 1 177911151 [A/G] NM_033127 SEC16B EXON Missense_R636C exm-rs10913469 1 177913519 [T/C] NM_033127 SEC16B Silent exm126254 1 177913757 [A/G] NM_033127 SEC16B EXON Missense_T607M exm126261 1 177917055 [T/C] NM_033127 SEC16B EXON Missense_G523E exm126268 1 177921119 [A/G] NM_033127 SEC16B EXON Missense_T492M exm126277 1 177927334 [A/G] NM_033127 SEC16B EXON Missense_P433L exm126280 1 177927479 [T/C] NM_033127 SEC16B EXON Missense_I385V exm126283 1 177928008 [T/C] NM_033127 SEC16B EXON Nonsense_W367X exm126300 1 177930009 [T/C] NM_033127 SEC16B EXON Missense_G285R exm126303 1 177930832 [T/C] NM_033127 SEC16B EXON Missense_R227H exm126304 1 177930833 [A/G] NM_033127 SEC16B EXON Missense_R227C exm126316 1 177934291 [A/G] NM_033127 SEC16B EXON Missense_R142W exm126324 1 177936870 [C/G] NM_033127 SEC16B EXON Missense_V83L exm126326 1 177936959 [T/C] NM_033127 SEC16B EXON Missense_R53H exm126327 1 177936994 [T/G] NM_033127 SEC16B EXON Missense_H41Q exm126328 1 177936996 [C/G] NM_033127 SEC16B EXON Missense_H41D exm126330 1 177937016 [T/C] NM_033127 SEC16B EXON Missense_R34Q exm126333 1 177937038 [A/T] NM_033127 SEC16B EXON Missense_F27I exm126335 1 177937065 [T/C] NM_033127 SEC16B EXON Missense_A18T exm126336 1 177937079 [T/C] NM_033127 SEC16B EXON Missense_R13Q exm2268790 1 177974569 [T/C] exm2259869 1 178028711 [T/C] exm2275524 1 178063812 [C/G] NM_170692 RASAL2 EXON Missense_S62T exm126348 1 178269146 [A/T] NM_170692 RASAL2 EXON Missense_Q117L exm126351 1 178269208 [A/G] NM_170692 RASAL2 EXON Missense_E138K exm126353 1 178269238 [A/G] NM_170692 RASAL2 EXON Missense_G148S exm126354 1 178269244 [A/G] NM_170692 RASAL2 EXON Missense_T150A exm126355 1 178310738 [A/C] NM_170692,NM_004841 RASAL2,RASAL2 EXON Silent,Missense_T3N exm2231929 1 178359244 [T/C] NM_170692,NM_004841 RASAL2,RASAL2 EXON Missense_A156V,Missense_A8V exm2250316 1 178410731 [A/T] NM_170692,NM_004841 RASAL2,RASAL2 EXON Synonymous_S292S,Synonymous_S144S exm1738952 1 178412093 [A/G] NM_170692,NM_004841 RASAL2,RASAL2 EXON Missense_S404N,Missense_S256N exm126384 1 178412191 [T/C] NM_170692,NM_004841 RASAL2,RASAL2 EXON Missense_R437C,Missense_R289C exm126396 1 178420787 [A/C] NM_170692,NM_004841 RASAL2,RASAL2 EXON Missense_D570A,Missense_D422A exm2273722 1 178426850 [A/G] NM_170692,NM_004841 RASAL2,RASAL2 EXON Missense_D808G,Missense_D667G exm1738990 1 178427099 [A/G] NM_170692,NM_004841 RASAL2,RASAL2 EXON Missense_R891Q,Missense_R750Q exm126423 1 178427156 [T/C] NM_170692,NM_004841 RASAL2,RASAL2 EXON Missense_A910V,Missense_A769V exm1738991 1 178427309 [T/A] NM_170692,NM_004841 RASAL2,RASAL2 EXON Missense_D961V,Missense_D820V exm2250317 1 178427541 [T/C] NM_170692,NM_004841 RASAL2,RASAL2 EXON Synonymous_T1038T,Synonymous_T897T exm126445 1 178435086 [A/G] NM_170692,NM_004841 RASAL2,RASAL2 EXON Missense_R1140H,Missense_R999H exm126450 1 178435209 [A/G] NM_170692,NM_004841 RASAL2,RASAL2 EXON Missense_R1181Q,Missense_R1040Q exm126452 1 178436480 [T/G] NM_170692,NM_004841 RASAL2,RASAL2 EXON Missense_V1201G,Missense_V1060G exm126454 1 178436488 [A/G] NM_170692,NM_004841 RASAL2,RASAL2 EXON Missense_E1204K,Missense_E1063K exm126462 1 178442259 [T/C] NM_170692,NM_004841 RASAL2,RASAL2 EXON Missense_A1243V,Missense_A1102V exm126476 1 178483205 [T/C] NM_001170724,NM_032126,NM_001170722,NM_001170723 TEX35,TEX35,TEX35,TEX35 EXON Missense_P28L,Missense_P28L,Missense_P36L,Missense_P28L exm126481 1 178483841 [A/G] NM_001170724,NM_032126,NM_001170722,NM_001170723 TEX35,TEX35,TEX35,TEX35 EXON Missense_D33N,Missense_D33N,Missense_D41N,Missense_D33N exm126482 1 178483868 [T/C] NM_001170724,NM_032126,NM_001170722,NM_001170723 TEX35,TEX35,TEX35,TEX35 EXON Missense_R42W,Missense_R42W,Missense_R50W,Missense_R42W exm126485 1 178484998 [A/G] NM_001170724,NM_032126,NM_001170722,NM_001170723 TEX35,TEX35,TEX35,TEX35 EXON Missense_E55G,Missense_E55G,Missense_E63G,Missense_E55G exm126493 1 178485772 [T/A] NM_001170724,NM_032126,NM_001170722,NM_001170723 TEX35,TEX35,TEX35,TEX35 EXON Missense_D80V,Missense_D80V,Missense_D88V,Missense_D80V exm126494 1 178485775 [T/G] NM_001170724,NM_032126,NM_001170722,NM_001170723 TEX35,TEX35,TEX35,TEX35 EXON Missense_F81C,Missense_F81C,Missense_F89C,Missense_F81C exm126502 1 178489520 [A/G] NM_001170724,NM_032126,NM_001170722,NM_001170723 TEX35,TEX35,TEX35,TEX35 EXON Missense_D97G,Missense_D97G,Missense_D105G,Missense_D97G exm126510 1 178489822 [A/C] NM_001170724,NM_032126,NM_001170722,NM_001170723 TEX35,TEX35,TEX35,TEX35 EXON Missense_A119E,Missense_A119E,Missense_A127E,Missense_A119E exm126514 1 178489858 [A/G] NM_001170724,NM_032126,NM_001170722,NM_001170723 TEX35,TEX35,TEX35,TEX35 EXON Missense_K131R,Missense_K131R,Missense_K139R,Missense_K131R exm126516 1 178489903 [G/C] NM_001170724,NM_032126,NM_001170722,NM_001170723 TEX35,TEX35,TEX35,TEX35 EXON Missense_A146G,Missense_A146G,Missense_A154G,Missense_A146G exm126518 1 178489935 [C/G] NM_001170724,NM_032126,NM_001170722,NM_001170723 TEX35,TEX35,TEX35,TEX35 EXON Missense_H157D,Missense_H157D,Missense_H165D,Missense_H157D exm126521 1 178489978 [T/G] NM_001170724,NM_032126,NM_001170722,NM_001170723 TEX35,TEX35,TEX35,TEX35 EXON Missense_L171R,Missense_L171R,Missense_L179R,Missense_L171R exm126523 1 178490010 [A/G] NM_001170724,NM_032126,NM_001170722,NM_001170723 TEX35,TEX35,TEX35,TEX35 Silent,Silent,Silent,Silent exm126530 1 178490387 [A/G] NM_001170724,NM_032126,NM_001170722,NM_001170723 TEX35,TEX35,TEX35,TEX35 EXON Missense_N192D,Missense_N192D,Missense_N200D,Missense_N192D exm126536 1 178491513 [A/G] NM_001170724,NM_032126,NM_001170722 TEX35,TEX35,TEX35 EXON Silent,Missense_T214A,Silent exm126538 1 178491570 [A/G] NM_001170724,NM_032126,NM_001170722 TEX35,TEX35,TEX35 EXON Silent,Missense_R233G,Silent exm-rs4650994 1 178515312 [A/G] NR_033186 C1orf220 Silent exm2265060 1 178518008 [A/G] NR_033186 C1orf220 EXON Silent exm2250322 1 178620601 [T/G] exm1739095 1 178777231 [A/C] NM_152663 RALGPS2 EXON Missense_N89H exm126588 1 178820271 [A/G] NM_152663,NM_004673 RALGPS2,ANGPTL1 EXON Silent,Missense_I490T exm126601 1 178822061 [A/G] NM_152663,NM_004673 RALGPS2,ANGPTL1 EXON Silent,Missense_Y349H exm126609 1 178822919 [C/G] NM_152663,NM_004673 RALGPS2,ANGPTL1 EXON Silent,Missense_P276R exm126611 1 178834112 [A/G] NM_152663,NM_004673 RALGPS2,ANGPTL1 EXON Silent,Missense_P267L exm126612 1 178834146 [T/C] NM_152663,NM_004673 RALGPS2,ANGPTL1 EXON Silent,Missense_A256T exm126615 1 178834155 [A/G] NM_152663,NM_004673 RALGPS2,ANGPTL1 EXON Silent,Missense_P253S exm1739119 1 178834248 [C/G] NM_152663,NM_004673 RALGPS2,ANGPTL1 EXON Silent,Missense_H222D exm126648 1 178834853 [A/T] NM_152663,NM_004673 RALGPS2,ANGPTL1 EXON Silent,Missense_H20L exm126652 1 178834901 [A/G] NM_152663,NM_004673 RALGPS2,ANGPTL1 EXON Silent,Missense_F4S exm126656 1 178846699 [A/G] NM_152663 RALGPS2 EXON Missense_N225S exm126661 1 178852647 [A/G] NM_152663 RALGPS2 EXON Missense_A295T exm126666 1 178854226 [T/C] NM_152663 RALGPS2 EXON Missense_A307V exm126672 1 178854330 [T/C] NM_152663 RALGPS2 EXON Missense_H342Y exm126701 1 179013058 [A/G] NM_014864 FAM20B EXON Missense_D26N exm126710 1 179013283 [A/G] NM_014864 FAM20B EXON Missense_V101M exm126711 1 179013321 [A/G] NM_014864 FAM20B EXON Missense_I113M exm126743 1 179041101 [A/T] NM_014864 FAM20B EXON Missense_K351M exm126746 1 179041137 [T/C] NM_014864 FAM20B EXON Missense_I363T exm126759 1 179051300 [T/C] NM_022371 TOR3A EXON Missense_F13L exm126770 1 179051508 [T/C] NM_022371 TOR3A EXON Missense_A82V exm126776 1 179052079 [C/G] NM_022371 TOR3A EXON Missense_W88C exm126782 1 179052127 [A/G] NM_022371 TOR3A EXON Nonsense_W104X exm126790 1 179054810 [T/C] NM_022371 TOR3A EXON Nonsense_Q141X exm126793 1 179054888 [A/G] NM_022371 TOR3A EXON Missense_G167S exm126804 1 179055029 [A/G] NM_022371 TOR3A Silent exm1739174 1 179063231 [A/T] NM_022371 TOR3A EXON Missense_N274K exm126823 1 179064123 [T/C] NM_022371 TOR3A EXON Missense_R322C exm126824 1 179064124 [A/G] NM_022371 TOR3A EXON Missense_R322H exm126826 1 179064142 [T/A] NM_022371 TOR3A EXON Missense_L328Q exm126827 1 179064145 [T/C] NM_022371 TOR3A EXON Missense_I329T exm126830 1 179064180 [T/C] NM_022371 TOR3A EXON Missense_R341C exm126839 1 179064279 [A/C] NM_022371 TOR3A EXON Missense_P374T exm126857 1 179077109 [T/C] NM_001168236,NM_001168239,NM_001168237,NM_007314,NM_005158,NM_001168238,NM_001136000 ABL2,ABL2,ABL2,ABL2,ABL2,ABL2,ABL2 EXON Missense_S1077N,Missense_S959N,Missense_S995N,Missense_S1098N,Missense_S1083N,Missense_S974N,Missense_S980N exm1739182 1 179077223 [T/C] NM_001168236,NM_001168239,NM_001168237,NM_007314,NM_005158,NM_001168238,NM_001136000 ABL2,ABL2,ABL2,ABL2,ABL2,ABL2,ABL2 EXON Missense_N1039S,Missense_N921S,Missense_N957S,Missense_N1060S,Missense_N1045S,Missense_N936S,Missense_N942S exm2231943 1 179077337 [T/C] NM_001168236,NM_001168239,NM_001168237,NM_007314,NM_005158,NM_001168238,NM_001136000 ABL2,ABL2,ABL2,ABL2,ABL2,ABL2,ABL2 EXON Missense_G1001E,Missense_G883E,Missense_G919E,Missense_G1022E,Missense_G1007E,Missense_G898E,Missense_G904E exm126869 1 179077415 [G/C] NM_001168236,NM_001168239,NM_001168237,NM_007314,NM_005158,NM_001168238,NM_001136000 ABL2,ABL2,ABL2,ABL2,ABL2,ABL2,ABL2 EXON Missense_P975R,Missense_P857R,Missense_P893R,Missense_P996R,Missense_P981R,Missense_P872R,Missense_P878R exm126875 1 179077566 [T/C] NM_001168236,NM_001168239,NM_001168237,NM_007314,NM_005158,NM_001168238,NM_001136000 ABL2,ABL2,ABL2,ABL2,ABL2,ABL2,ABL2 EXON Missense_V925M,Missense_V807M,Missense_V843M,Missense_V946M,Missense_V931M,Missense_V822M,Missense_V828M exm126876 1 179077613 [T/C] NM_001168236,NM_001168239,NM_001168237,NM_007314,NM_005158,NM_001168238,NM_001136000 ABL2,ABL2,ABL2,ABL2,ABL2,ABL2,ABL2 EXON Missense_K909R,Missense_K791R,Missense_K827R,Missense_K930R,Missense_K915R,Missense_K806R,Missense_K812R exm126880 1 179077689 [T/G] NM_001168236,NM_001168239,NM_001168237,NM_007314,NM_005158,NM_001168238,NM_001136000 ABL2,ABL2,ABL2,ABL2,ABL2,ABL2,ABL2 EXON Missense_P884T,Missense_P766T,Missense_P802T,Missense_P905T,Missense_P890T,Missense_P781T,Missense_P787T exm126895 1 179078052 [T/A] NM_001168236,NM_001168239,NM_001168237,NM_007314,NM_005158,NM_001168238,NM_001136000 ABL2,ABL2,ABL2,ABL2,ABL2,ABL2,ABL2 EXON Missense_T763S,Silent,Silent,Missense_T784S,Missense_T769S,Silent,Silent exm126908 1 179078344 [A/C] NM_001168236,NM_001168239,NM_001168237,NM_007314,NM_005158,NM_001168238,NM_001136000 ABL2,ABL2,ABL2,ABL2,ABL2,ABL2,ABL2 EXON Synonymous_T665T,Synonymous_T650T,Synonymous_T686T,Synonymous_T686T,Synonymous_T671T,Synonymous_T665T,Synonymous_T671T exm126913 1 179078409 [T/G] NM_001168236,NM_001168239,NM_001168237,NM_007314,NM_005158,NM_001168238,NM_001136000 ABL2,ABL2,ABL2,ABL2,ABL2,ABL2,ABL2 EXON Missense_P644T,Missense_P629T,Missense_P665T,Missense_P665T,Missense_P650T,Missense_P644T,Missense_P650T exm126916 1 179079416 [T/C] NM_001168236,NM_001168239,NM_001168237,NM_007314,NM_005158,NM_001168238,NM_001136000 ABL2,ABL2,ABL2,ABL2,ABL2,ABL2,ABL2 Silent,Silent,Silent,Silent,Silent,Silent,Silent exm126917 1 179079420 [A/G] NM_001168236,NM_001168239,NM_001168237,NM_007314,NM_005158,NM_001168238,NM_001136000 ABL2,ABL2,ABL2,ABL2,ABL2,ABL2,ABL2 EXON Missense_P587S,Missense_P572S,Missense_P608S,Missense_P608S,Missense_P593S,Missense_P587S,Missense_P593S exm126946 1 179087875 [A/C] NM_001168236,NM_001168239,NM_001168237,NM_007314,NM_005158,NM_001168238,NM_001136000,NM_001136001 ABL2,ABL2,ABL2,ABL2,ABL2,ABL2,ABL2,ABL2 EXON Missense_F336C,Missense_F321C,Missense_F357C,Missense_F357C,Missense_F342C,Missense_F336C,Missense_F342C,Missense_F336C exm2250324 1 179100501 [A/G] NM_001168236,NM_001168239,NM_001168237,NM_007314,NM_005158,NM_001168238,NM_001136000,NM_001136001 ABL2,ABL2,ABL2,ABL2,ABL2,ABL2,ABL2,ABL2 EXON Synonymous_F91F,Synonymous_F76F,Synonymous_F112F,Synonymous_F112F,Synonymous_F97F,Synonymous_F91F,Synonymous_F97F,Synonymous_F91F exm126967 1 179100545 [T/C] NM_001168236,NM_001168239,NM_001168237,NM_007314,NM_005158,NM_001168238,NM_001136000,NM_001136001 ABL2,ABL2,ABL2,ABL2,ABL2,ABL2,ABL2,ABL2 EXON Missense_K77E,Missense_K62E,Missense_K98E,Missense_K98E,Missense_K83E,Missense_K77E,Missense_K83E,Missense_K77E exm126969 1 179100604 [T/C] NM_001168236,NM_001168239,NM_001168237,NM_007314,NM_005158,NM_001168238,NM_001136000,NM_001136001 ABL2,ABL2,ABL2,ABL2,ABL2,ABL2,ABL2,ABL2 EXON Missense_R57H,Missense_R42H,Missense_R78H,Missense_R78H,Missense_R63H,Missense_R57H,Missense_R63H,Missense_R57H exm126979 1 179112145 [G/C] NM_001168236,NM_001168239,NM_001168237,NM_007314,NM_005158,NM_001168238,NM_001136000,NM_001136001 ABL2,ABL2,ABL2,ABL2,ABL2,ABL2,ABL2,ABL2 EXON Silent,Missense_S12T,Silent,Silent,Missense_S12T,Silent,Missense_S12T,Silent exm2263840 1 179158614 [A/C] NM_001168236,NM_001168237,NM_007314,NM_001168238,NM_001136001 ABL2,ABL2,ABL2,ABL2,ABL2 Silent,Silent,Silent,Silent,Silent exm126990 1 179271826 [A/G] NM_001252511,NM_003101,NM_001252512,NR_045530 SOAT1,SOAT1,SOAT1,SOAT1 EXON Silent,Missense_G3S,Silent,Silent exm1739249 1 179292574 [T/C] NM_001252511,NM_003101,NM_001252512,NR_045530 SOAT1,SOAT1,SOAT1,SOAT1 EXON Silent,Nonsense_R41X,Silent,Silent exm127016 1 179310275 [C/G] NM_001252511,NM_003101,NM_001252512,NR_045530 SOAT1,SOAT1,SOAT1,SOAT1 EXON Missense_Q146E,Missense_Q204E,Missense_Q139E,Silent exm127019 1 179310332 [T/C] NM_001252511,NM_003101,NM_001252512,NR_045530 SOAT1,SOAT1,SOAT1,SOAT1 EXON Missense_H165Y,Missense_H223Y,Missense_H158Y,Silent exm127020 1 179310348 [T/C] NM_001252511,NM_003101,NM_001252512,NR_045530 SOAT1,SOAT1,SOAT1,SOAT1 EXON Missense_M170T,Missense_M228T,Missense_M163T,Silent exm127021 1 179310383 [A/G] NM_001252511,NM_003101,NM_001252512,NR_045530 SOAT1,SOAT1,SOAT1,SOAT1 EXON Missense_T182A,Missense_T240A,Missense_T175A,Silent exm127030 1 179312009 [T/C] NM_001252511,NM_003101,NM_001252512,NR_045530 SOAT1,SOAT1,SOAT1,SOAT1 EXON Missense_I233T,Missense_I291T,Missense_I226T,Silent exm127049 1 179314143 [A/G] NM_001252511,NM_003101,NM_001252512,NR_045530 SOAT1,SOAT1,SOAT1,SOAT1 EXON Missense_R292Q,Missense_R350Q,Missense_R285Q,Silent exm127054 1 179316801 [T/C] NM_001252511,NM_003101,NM_001252512,NR_045530 SOAT1,SOAT1,SOAT1,SOAT1 EXON Missense_M337T,Missense_M395T,Missense_M330T,Silent exm127073 1 179320578 [A/G] NM_001252511,NM_003101,NM_001252512,NR_045530 SOAT1,SOAT1,SOAT1,SOAT1 EXON Missense_Q468R,Missense_Q526R,Missense_Q461R,Silent exm127077 1 179322763 [A/G] NM_001252511,NM_003101,NM_001252512,NR_045530 SOAT1,SOAT1,SOAT1,SOAT1 EXON Missense_R489H,Missense_R547H,Missense_R482H,Silent exm127088 1 179338046 [T/C] NM_144696,NR_073544 AXDND1,AXDND1 EXON Missense_A70V,Silent exm127089 1 179338048 [A/G] NM_144696,NR_073544 AXDND1,AXDND1 EXON Missense_A71T,Silent exm127091 1 179339113 [A/G] NM_144696,NR_073544 AXDND1,AXDND1 EXON Missense_T92A,Silent exm127101 1 179347845 [T/G] NM_144696,NR_073544 AXDND1,AXDND1 EXON Missense_L150V,Silent exm1739317 1 179352607 [T/G] NM_144696,NR_073544 AXDND1,AXDND1 EXON Missense_Q223H,Silent exm127111 1 179352631 [A/G] NM_144696,NR_073544 AXDND1,AXDND1 EXON Missense_M231I,Silent exm127112 1 179352648 [A/T] NM_144696,NR_073544 AXDND1,AXDND1 EXON Missense_V237E,Silent exm127118 1 179354495 [T/G] NM_144696,NR_073544 AXDND1,AXDND1 Silent,Silent exm127124 1 179363111 [T/C] NM_144696,NR_073544 AXDND1,AXDND1 EXON Nonsense_R313X,Silent exm127125 1 179363114 [G/C] NM_144696,NR_073544 AXDND1,AXDND1 EXON Missense_V314L,Silent exm127127 1 179363143 [T/G] NM_144696,NR_073544 AXDND1,AXDND1 EXON Missense_L323F,Silent exm127129 1 179364256 [A/G] NM_144696,NR_073544 AXDND1,AXDND1 EXON Missense_H343R,Silent exm127136 1 179398684 [A/G] NM_144696,NR_073544 AXDND1,AXDND1 EXON Missense_R421K,Silent exm127137 1 179398726 [A/G] NM_144696,NR_073544 AXDND1,AXDND1 EXON Missense_K435R,Silent exm127154 1 179414105 [A/C] NM_144696,NR_073544 AXDND1,AXDND1 EXON Missense_I522L,Silent exm127160 1 179414262 [T/G] NM_144696,NR_073544 AXDND1,AXDND1 EXON Missense_R574L,Silent exm127162 1 179414328 [A/G] NM_144696,NR_073544 AXDND1,AXDND1 EXON Missense_N596S,Silent exm127168 1 179437659 [T/C] NM_144696,NR_073544 AXDND1,AXDND1 EXON Missense_T627M,Silent exm127170 1 179437777 [A/G] NM_144696,NR_073544 AXDND1,AXDND1 Silent,Silent exm127185 1 179460806 [T/C] NM_144696,NR_073544 AXDND1,AXDND1 EXON Missense_A742V,Silent exm127194 1 179462017 [A/G] NM_144696,NR_073544 AXDND1,AXDND1 EXON Missense_M773I,Silent exm1739369 1 179462067 [A/G] NM_144696,NR_073544 AXDND1,AXDND1 EXON Missense_Y790C,Silent exm-rs12047808 1 179469314 [A/G] NM_144696,NR_073544 AXDND1,AXDND1 Silent,Silent exm127198 1 179478525 [A/G] NM_144696,NR_073544 AXDND1,AXDND1 EXON Missense_R828Q,Silent exm127202 1 179494574 [A/G] NM_144696,NR_073544 AXDND1,AXDND1 EXON Missense_A868T,Silent exm127210 1 179503909 [A/G] NM_144696,NR_073544 AXDND1,AXDND1 EXON Missense_D948G,Silent exm127211 1 179503911 [A/G] NM_144696,NR_073544 AXDND1,AXDND1 EXON Missense_A949T,Silent exm127219 1 179504040 [C/G] NM_144696,NR_073544 AXDND1,AXDND1 EXON Missense_Q992E,Silent exm127220 1 179504043 [C/G] NM_144696,NR_073544 AXDND1,AXDND1 EXON Missense_Q993E,Silent exm127222 1 179504070 [T/G] NM_144696,NR_073544 AXDND1,AXDND1 EXON Nonsense_E1002X,Silent exm127242 1 179521794 [A/C] NM_144696,NR_073544,NM_014625 AXDND1,AXDND1,NPHS2 EXON Silent,Silent,Missense_G273W exm127251 1 179526214 [T/C] NM_014625 NPHS2 EXON Missense_R229Q exm127254 1 179526278 [T/C] NM_014625 NPHS2 EXON Missense_A208T exm127263 1 179530462 [T/C] NM_014625 NPHS2 EXON Missense_R138Q exm127281 1 179544941 [A/G] NM_014625 NPHS2 EXON Missense_P20L exm127291 1 179561901 [T/C] NM_001199091,NM_173533,NM_001199085,NM_001199089 TDRD5,TDRD5,TDRD5,TDRD5 EXON Missense_R51W,Missense_R51W,Missense_R51W,Missense_R51W exm127299 1 179562673 [T/C] NM_001199091,NM_173533,NM_001199085,NM_001199089 TDRD5,TDRD5,TDRD5,TDRD5 EXON Missense_M104T,Missense_M104T,Missense_M104T,Missense_M104T exm127303 1 179562740 [C/G] NM_001199091,NM_173533,NM_001199085,NM_001199089 TDRD5,TDRD5,TDRD5,TDRD5 EXON Missense_R126S,Missense_R126S,Missense_R126S,Missense_R126S exm127305 1 179562792 [A/G] NM_001199091,NM_173533,NM_001199085,NM_001199089 TDRD5,TDRD5,TDRD5,TDRD5 EXON Missense_A144T,Missense_A144T,Missense_A144T,Missense_A144T exm127320 1 179564837 [T/G] NM_001199091,NM_173533,NM_001199085,NM_001199089 TDRD5,TDRD5,TDRD5,TDRD5 EXON Missense_F239V,Missense_F239V,Missense_F239V,Missense_F239V exm1739442 1 179564849 [A/G] NM_001199091,NM_173533,NM_001199085,NM_001199089 TDRD5,TDRD5,TDRD5,TDRD5 EXON Missense_T243A,Missense_T243A,Missense_T243A,Missense_T243A exm127326 1 179587765 [A/G] NM_001199091,NM_173533,NM_001199085,NM_001199089,NM_001199092 TDRD5,TDRD5,TDRD5,TDRD5,TDRD5 EXON Missense_Q288R,Missense_Q288R,Missense_Q288R,Missense_Q288R,Silent exm127334 1 179600001 [A/G] NM_001199091,NM_173533,NM_001199085,NM_001199089,NM_001199092 TDRD5,TDRD5,TDRD5,TDRD5,TDRD5 EXON Missense_K358E,Missense_K358E,Missense_K358E,Missense_K358E,Silent exm127341 1 179603702 [A/C] NM_001199091,NM_173533,NM_001199085,NM_001199089,NM_001199092 TDRD5,TDRD5,TDRD5,TDRD5,TDRD5 EXON Missense_Q413K,Missense_Q413K,Missense_Q413K,Missense_Q413K,Silent exm127354 1 179604992 [T/A] NM_001199091,NM_173533,NM_001199085,NM_001199089,NM_001199092 TDRD5,TDRD5,TDRD5,TDRD5,TDRD5 EXON Missense_E497V,Missense_E497V,Missense_E497V,Missense_E497V,Missense_E52V exm127368 1 179609549 [T/C] NM_001199091,NM_173533,NM_001199085,NM_001199089,NM_001199092 TDRD5,TDRD5,TDRD5,TDRD5,TDRD5 EXON Missense_P590L,Missense_P590L,Missense_P590L,Missense_P590L,Missense_P145L exm127375 1 179620047 [A/G] NM_001199091,NM_173533,NM_001199085,NM_001199089,NM_001199092 TDRD5,TDRD5,TDRD5,TDRD5,TDRD5 EXON Missense_G616S,Missense_G616S,Missense_G616S,Missense_G616S,Missense_G171S exm127380 1 179621253 [T/G] NM_001199091,NM_173533,NM_001199085,NM_001199089,NM_001199092 TDRD5,TDRD5,TDRD5,TDRD5,TDRD5 EXON Missense_G694V,Missense_G694V,Missense_G694V,Missense_G694V,Missense_G249V exm127384 1 179631242 [A/G] NM_001199091,NM_173533,NM_001199085,NM_001199089,NM_001199092 TDRD5,TDRD5,TDRD5,TDRD5,TDRD5 EXON Missense_E722K,Missense_E722K,Missense_E776K,Missense_E776K,Missense_E277K exm127388 1 179631329 [T/A] NM_001199091,NM_173533,NM_001199085,NM_001199089,NM_001199092 TDRD5,TDRD5,TDRD5,TDRD5,TDRD5 EXON Missense_M751L,Missense_M751L,Missense_M805L,Missense_M805L,Missense_M306L exm2231948 1 179632583 [T/C] NM_001199091,NM_173533,NM_001199085,NM_001199089,NM_001199092 TDRD5,TDRD5,TDRD5,TDRD5,TDRD5 EXON Missense_L815P,Missense_L815P,Missense_L869P,Missense_L869P,Missense_L370P exm127405 1 179638476 [A/T] NM_001199091,NM_173533,NM_001199085,NM_001199089,NM_001199092 TDRD5,TDRD5,TDRD5,TDRD5,TDRD5 EXON Missense_S879T,Missense_S879T,Missense_S933T,Missense_S933T,Missense_S434T exm2264925 1 179687259 [A/G] exm1739514 1 179783142 [C/G] NM_173509 FAM163A EXON Missense_R108G exm1739515 1 179783220 [C/G] NM_173509 FAM163A EXON Missense_P134A exm1739523 1 179815307 [A/T] NM_145034,NM_001199260 TOR1AIP2,TOR1AIP2 EXON Missense_M438L,Missense_M438L exm127487 1 179820031 [T/C] NM_145034,NM_001199260 TOR1AIP2,TOR1AIP2 EXON Missense_S168G,Missense_S168G exm127496 1 179820243 [T/C] NM_145034,NM_001199260 TOR1AIP2,TOR1AIP2 EXON Missense_G97D,Missense_G97D exm127499 1 179820343 [A/C] NM_145034,NM_001199260 TOR1AIP2,TOR1AIP2 EXON Missense_A64S,Missense_A64S exm127502 1 179820394 [A/G] NM_145034,NM_001199260 TOR1AIP2,TOR1AIP2 EXON Missense_C47R,Missense_C47R exm127511 1 179833929 [T/C] NM_145034,NM_001199260,NM_022347 TOR1AIP2,TOR1AIP2,TOR1AIP2 EXON Silent,Silent,Missense_G128D exm127522 1 179851642 [T/C] NM_001267578,NM_015602 TOR1AIP1,TOR1AIP1 EXON Missense_A2V,Missense_A2V exm127533 1 179851792 [A/T] NM_001267578,NM_015602 TOR1AIP1,TOR1AIP1 EXON Missense_Q52L,Missense_Q52L exm127544 1 179851998 [A/G] NM_001267578,NM_015602 TOR1AIP1,TOR1AIP1 EXON Missense_E121K,Missense_E121K exm127546 1 179852010 [G/C] NM_001267578,NM_015602 TOR1AIP1,TOR1AIP1 EXON Missense_R125G,Missense_R125G exm127550 1 179852065 [T/C] NM_001267578,NM_015602 TOR1AIP1,TOR1AIP1 EXON Missense_S143F,Missense_S143F exm127551 1 179852074 [T/C] NM_001267578,NM_015602 TOR1AIP1,TOR1AIP1 EXON Missense_M146T,Missense_M146T exm1739572 1 179853844 [G/C] NM_001267578,NM_015602 TOR1AIP1,TOR1AIP1 EXON Missense_Q165E,Missense_Q165E exm127577 1 179876957 [T/G] NM_001267578,NM_015602 TOR1AIP1,TOR1AIP1 Silent,Silent exm127579 1 179876988 [G/C] NM_001267578,NM_015602 TOR1AIP1,TOR1AIP1 EXON Missense_P277R,Missense_P276R exm127581 1 179877780 [A/C] NM_001267578,NM_015602 TOR1AIP1,TOR1AIP1 EXON Missense_Q294H,Missense_Q293H exm127584 1 179883134 [T/C] NM_001267578,NM_015602 TOR1AIP1,TOR1AIP1 EXON Synonymous_N304N,Synonymous_N303N exm127588 1 179883190 [A/G] NM_001267578,NM_015602 TOR1AIP1,TOR1AIP1 Silent,Silent exm127595 1 179886769 [A/G] NM_001267578,NM_015602 TOR1AIP1,TOR1AIP1 EXON Missense_D384N,Missense_D383N exm127608 1 179887049 [T/C] NM_001267578,NM_015602 TOR1AIP1,TOR1AIP1 EXON Missense_A477V,Missense_A476V exm127625 1 179959724 [G/C] NM_014810 CEP350 EXON Missense_S68C exm127626 1 179959750 [A/G] NM_014810 CEP350 EXON Missense_R77G exm127630 1 179961257 [A/G] NM_014810 CEP350 EXON Missense_R99Q exm127641 1 179965828 [A/G] NM_014810 CEP350 EXON Missense_C179Y exm127642 1 179965861 [A/G] NM_014810 CEP350 EXON Missense_N190S exm1739607 1 179965908 [T/A] NM_014810 CEP350 EXON Missense_L206M exm127646 1 179965962 [A/G] NM_014810 CEP350 EXON Missense_E224K exm127650 1 179966044 [T/C] NM_014810 CEP350 EXON Missense_A251V exm127656 1 179966115 [T/C] NM_014810 CEP350 EXON Missense_R275W exm127675 1 179981087 [A/T] NM_014810 CEP350 EXON Missense_S424T exm127684 1 179983153 [A/G] NM_014810 CEP350 EXON Missense_D522G exm127685 1 179983164 [A/G] NM_014810 CEP350 EXON Missense_I526V exm1739626 1 179983195 [A/T] NM_014810 CEP350 EXON Missense_Q536L exm127707 1 179989230 [A/G] NM_014810 CEP350 EXON Missense_D774G exm127711 1 179989296 [G/C] NM_014810 CEP350 EXON Missense_P796R exm127715 1 179989362 [A/G] NM_014810 CEP350 EXON Missense_Y818C exm127720 1 179989560 [T/A] NM_014810 CEP350 EXON Missense_D884V exm127721 1 179989584 [G/C] NM_014810 CEP350 EXON Missense_R892T exm127737 1 179990027 [A/C] NM_014810 CEP350 EXON Missense_P1040T exm127746 1 179991860 [T/C] NM_014810 CEP350 EXON Missense_T1088I exm127753 1 179993559 [T/C] NM_014810 CEP350 EXON Missense_T1131I exm127759 1 180000542 [T/G] NM_014810 CEP350 EXON Missense_G1213V exm127760 1 180000562 [A/G] NM_014810 CEP350 EXON Missense_V1220I exm127761 1 180000578 [A/G] NM_014810 CEP350 EXON Missense_Q1225R exm127766 1 180003055 [A/T] NM_014810 CEP350 EXON Missense_S1262T exm127769 1 180003120 [A/G] NM_014810 CEP350 EXON Missense_M1283I exm127779 1 180006126 [A/G] NM_014810 CEP350 EXON Missense_A1338T exm127786 1 180010349 [A/G] NM_014810 CEP350 EXON Missense_R1396K exm127790 1 180010837 [A/G] NM_014810 CEP350 EXON Missense_R1421Q exm127796 1 180010903 [A/G] NM_014810 CEP350 EXON Missense_R1443H exm127797 1 180010911 [A/G] NM_014810 CEP350 EXON Missense_T1446A exm127798 1 180010912 [T/C] NM_014810 CEP350 EXON Missense_T1446I exm127799 1 180012213 [A/G] NM_014810 CEP350 EXON Missense_H1462R exm127801 1 180012272 [T/C] NM_014810 CEP350 EXON Missense_R1482W exm127808 1 180013235 [T/G] NM_014810 CEP350 EXON Missense_S1517A exm127809 1 180013308 [A/G] NM_014810 CEP350 EXON Missense_R1541K exm127832 1 180031368 [T/G] NM_014810 CEP350 EXON Missense_R1759L exm127835 1 180031395 [A/G] NM_014810 CEP350 EXON Missense_R1768Q exm127839 1 180034271 [A/G] NM_014810 CEP350 EXON Missense_T1811A exm127841 1 180034280 [A/C] NM_014810 CEP350 EXON Missense_N1814H exm127848 1 180044254 [A/G] NM_014810 CEP350 EXON Missense_I1889V exm127849 1 180044257 [T/C] NM_014810 CEP350 EXON Missense_R1890C exm127850 1 180044304 [A/G] NM_014810 CEP350 EXON Missense_I1905M exm127857 1 180047713 [A/G] NM_014810 CEP350 EXON Missense_I1961M exm127862 1 180049723 [T/A] NM_014810 CEP350 EXON Missense_Q2017H exm127866 1 180053158 [A/C] NM_014810 CEP350 EXON Missense_T2044P exm127888 1 180061976 [G/C] NM_014810 CEP350 EXON Missense_D2246H exm1739701 1 180062079 [T/A] NM_014810 CEP350 EXON Missense_K2280I exm127901 1 180062369 [A/G] NM_014810 CEP350 EXON Missense_E2377K exm127906 1 180062586 [A/G] NM_014810 CEP350 EXON Missense_N2449S exm127907 1 180062624 [A/C] NM_014810 CEP350 EXON Missense_T2462P exm127915 1 180062747 [A/G] NM_014810 CEP350 EXON Missense_V2503M exm127918 1 180062814 [T/G] NM_014810 CEP350 EXON Missense_F2525C exm127919 1 180062822 [A/G] NM_014810 CEP350 EXON Missense_G2528R exm127928 1 180063075 [T/C] NM_014810 CEP350 EXON Missense_F2612S exm1739704 1 180063248 [A/G] NM_014810 CEP350 EXON Missense_I2670V exm127940 1 180063445 [C/G] NM_014810 CEP350 EXON Missense_K2735N exm2273724 1 180064742 [A/G] NM_014810 CEP350 EXON Missense_A2866T exm2231962 1 180064805 [G/C] NM_014810 CEP350 EXON Missense_Q2887E exm127956 1 180065048 [A/G] NM_014810 CEP350 EXON Missense_K2968E exm127974 1 180124061 [C/G] NM_002826,NM_001004128 QSOX1,QSOX1 EXON Missense_G7R,Missense_G7R exm127982 1 180135652 [A/G] NM_002826,NM_001004128 QSOX1,QSOX1 EXON Missense_A98T,Missense_A98T exm127987 1 180135701 [A/G] NM_002826,NM_001004128 QSOX1,QSOX1 EXON Missense_N114S,Missense_N114S exm128004 1 180145132 [T/C] NM_002826,NM_001004128 QSOX1,QSOX1 EXON Missense_T160M,Missense_T160M exm128011 1 180148012 [G/C] NM_002826,NM_001004128 QSOX1,QSOX1 EXON Missense_G200A,Missense_G200A exm128015 1 180151343 [T/C] NM_002826,NM_001004128 QSOX1,QSOX1 EXON Missense_A214V,Missense_A214V exm128018 1 180151349 [A/G] NM_002826,NM_001004128 QSOX1,QSOX1 EXON Missense_R216H,Missense_R216H exm128021 1 180151426 [T/C] NM_002826,NM_001004128 QSOX1,QSOX1 EXON Missense_R242W,Missense_R242W exm128032 1 180155259 [T/C] NM_002826,NM_001004128 QSOX1,QSOX1 EXON Missense_P320L,Missense_P320L exm128033 1 180155276 [T/C] NM_002826,NM_001004128 QSOX1,QSOX1 EXON Missense_R326C,Missense_R326C exm128041 1 180158729 [A/G] NM_002826,NM_001004128 QSOX1,QSOX1 EXON Missense_V354M,Missense_V354M exm128042 1 180158740 [T/G] NM_002826,NM_001004128 QSOX1,QSOX1 EXON Missense_W357C,Missense_W357C exm128049 1 180159620 [T/C] NM_002826,NM_001004128 QSOX1,QSOX1 EXON Missense_P398L,Missense_P398L exm128051 1 180159622 [T/C] NM_002826,NM_001004128 QSOX1,QSOX1 EXON Missense_H399Y,Missense_H399Y exm128055 1 180159679 [A/G] NM_002826,NM_001004128 QSOX1,QSOX1 EXON Missense_A418T,Missense_A418T exm128059 1 180163390 [A/G] NM_002826,NM_001004128 QSOX1,QSOX1 EXON Missense_H444R,Missense_H444R exm128062 1 180163416 [A/G] NM_002826,NM_001004128 QSOX1,QSOX1 EXON Missense_A453T,Missense_A453T exm128065 1 180163458 [A/G] NM_002826,NM_001004128 QSOX1,QSOX1 EXON Missense_V467M,Missense_V467M exm128070 1 180163519 [A/G] NM_002826,NM_001004128 QSOX1,QSOX1 EXON Missense_R487H,Missense_R487H exm128080 1 180165582 [T/C] NM_002826,NM_001004128 QSOX1,QSOX1 EXON Missense_R552W,Missense_R552W exm128086 1 180165675 [A/C] NM_002826,NM_001004128 QSOX1,QSOX1 EXON Missense_P583T,Missense_P583T exm128087 1 180165699 [A/C] NM_002826,NM_001004128 QSOX1,QSOX1 EXON Missense_N591H,Missense_N591H exm128093 1 180165742 [G/C] NM_002826,NM_001004128 QSOX1,QSOX1 EXON Missense_R605P,Silent exm128101 1 180165885 [G/C] NM_002826,NM_001004128 QSOX1,QSOX1 EXON Missense_A653P,Silent exm128109 1 180166002 [T/C] NM_002826,NM_001004128 QSOX1,QSOX1 EXON Missense_R692W,Silent exm128111 1 180166008 [T/C] NM_002826,NM_001004128 QSOX1,QSOX1 EXON Nonsense_R694X,Silent exm128123 1 180199701 [A/G] NM_033343 LHX4 EXON Missense_V13I exm2264926 1 180226930 [A/G] NM_033343 LHX4 Silent exm128139 1 180235663 [A/G] NM_033343 LHX4 EXON Missense_E129K exm128146 1 180235728 [T/C] NM_033343 LHX4 EXON Synonymous_N150N exm128149 1 180240971 [T/G] NM_033343,NR_037642 LHX4,LOC100527964 EXON Missense_V203G,Silent exm128165 1 180243464 [A/G] NM_033343,NR_037642 LHX4,LOC100527964 EXON Missense_Y308C,Silent exm128173 1 180243524 [A/G] NM_033343,NR_037642 LHX4,LOC100527964 EXON Missense_N328S,Silent exm128179 1 180243602 [T/C] NM_033343,NR_037642 LHX4,LOC100527964 EXON Missense_A354V,Silent exm128188 1 180243702 [T/G] NM_033343,NR_037642 LHX4,LOC100527964 EXON Missense_H387Q,Silent exm1739832 1 180243706 [A/C] NM_033343,NR_037642 LHX4,LOC100527964 EXON Missense_P389T,Silent exm128201 1 180366709 [T/C] NM_032360 ACBD6 EXON Missense_R202Q exm128215 1 180471311 [A/G] NM_032360 ACBD6 EXON Missense_P31S exm2265061 1 180506038 [A/G] exm128327 1 180842993 [A/G] NM_004736,NM_001135669 XPR1,XPR1 EXON Missense_I575V,Missense_I510V exm1739910 1 180885290 [A/G] NM_020950 KIAA1614 EXON Synonymous_Q17Q exm128352 1 180885334 [T/C] NM_020950 KIAA1614 EXON Missense_T32I exm128354 1 180885430 [T/C] NM_020950 KIAA1614 EXON Missense_L64P exm128370 1 180885699 [A/G] NM_020950 KIAA1614 EXON Missense_G154S exm128376 1 180885754 [T/C] NM_020950 KIAA1614 EXON Missense_P172L exm128378 1 180885768 [T/C] NM_020950 KIAA1614 EXON Missense_R177C exm128381 1 180885841 [T/C] NM_020950 KIAA1614 EXON Missense_P201L exm128387 1 180885874 [T/C] NM_020950 KIAA1614 EXON Missense_P212L exm128389 1 180885879 [T/C] NM_020950 KIAA1614 EXON Missense_H214Y exm128398 1 180886063 [A/G] NM_020950 KIAA1614 EXON Missense_R275H exm128403 1 180886126 [A/G] NM_020950 KIAA1614 EXON Missense_R296Q exm128404 1 180886140 [T/C] NM_020950 KIAA1614 EXON Missense_R301C exm128406 1 180886186 [A/G] NM_020950 KIAA1614 EXON Missense_R316H exm128408 1 180886216 [T/C] NM_020950 KIAA1614 EXON Missense_S326F exm128410 1 180886990 [A/G] NM_020950 KIAA1614 EXON Missense_R334Q exm128413 1 180887034 [A/G] NM_020950 KIAA1614 EXON Missense_D349N exm128423 1 180897634 [A/G] NM_020950 KIAA1614 EXON Missense_R377H exm128431 1 180897684 [A/G] NM_020950 KIAA1614 EXON Missense_V394M exm128432 1 180897709 [A/G] NM_020950 KIAA1614 EXON Missense_R402Q exm128434 1 180904367 [T/C] NM_020950 KIAA1614 EXON Missense_P441L exm128447 1 180904714 [T/C] NM_020950 KIAA1614 EXON Missense_P557S exm128456 1 180904951 [A/G] NM_020950 KIAA1614 EXON Missense_A636T exm128457 1 180904952 [T/C] NM_020950 KIAA1614 EXON Missense_A636V exm128467 1 180905263 [T/C] NM_020950 KIAA1614 EXON Missense_R740W exm128469 1 180905294 [T/C] NM_020950 KIAA1614 EXON Missense_T750I exm2250335 1 180905307 [T/G] NM_020950 KIAA1614 EXON Synonymous_T754T exm128473 1 180905344 [A/G] NM_020950 KIAA1614 EXON Missense_T767A exm128478 1 180905423 [A/C] NM_020950 KIAA1614 EXON Missense_Q793P exm128479 1 180905448 [T/G] NM_020950 KIAA1614 EXON Missense_L801F exm128485 1 180905618 [T/C] NM_020950 KIAA1614 EXON Missense_P858L exm128486 1 180905641 [T/C] NM_020950 KIAA1614 EXON Missense_R866C exm128499 1 180907831 [A/G] NM_020950 KIAA1614 EXON Missense_G968R exm128504 1 180910262 [A/G] NM_020950 KIAA1614 EXON Missense_I1000M exm128511 1 180910369 [T/C] NM_020950 KIAA1614 EXON Missense_P1036L exm128514 1 180910421 [A/G] NM_020950 KIAA1614 EXON Synonymous_P1053P exm128515 1 180913544 [A/G] NM_020950 KIAA1614 EXON Missense_R1060H exm128517 1 180913597 [A/G] NM_020950 KIAA1614 EXON Missense_N1078D exm128523 1 180914453 [T/C] NM_020950 KIAA1614 EXON Missense_S1101L exm128524 1 180914480 [A/G] NM_020950 KIAA1614 EXON Missense_D1110G exm128528 1 180914534 [T/C] NM_020950 KIAA1614 EXON Missense_P1128L exm2250336 1 180917275 [A/G] exm128544 1 180953873 [T/C] NM_005819 STX6 EXON Missense_T211A exm128548 1 180957405 [T/C] NM_005819 STX6 EXON Missense_R189H exm128551 1 180957427 [T/C] NM_005819 STX6 EXON Missense_V182M exm128565 1 180959239 [T/G] NM_005819 STX6 EXON Missense_L124M exm-rs1411478 1 180962282 [A/G] NM_005819 STX6 Silent exm128566 1 180962499 [T/C] NM_005819 STX6 EXON Synonymous_Q121Q exm128590 1 181003160 [T/C] NM_001195000,NM_001531,NM_001194999,NM_001195035 MR1,MR1,MR1,MR1 EXON Missense_A6V,Missense_A6V,Missense_A6V,Missense_A6V exm128609 1 181018422 [A/G] NM_001195000,NM_001531,NM_001194999,NM_001195035 MR1,MR1,MR1,MR1 EXON Missense_R101H,Missense_R101H,Missense_R101H,Missense_R101H exm128621 1 181021373 [T/C] NM_001195000,NM_001531,NM_001194999,NM_001195035 MR1,MR1,MR1,MR1 EXON Silent,Missense_P203S,Missense_P158S,Silent exm128627 1 181021487 [A/G] NM_001195000,NM_001531,NM_001194999,NM_001195035 MR1,MR1,MR1,MR1 EXON Silent,Missense_E241K,Missense_E196K,Silent exm128645 1 181058084 [A/G] NM_016545 IER5 EXON Missense_G16S exm128676 1 181058796 [A/G] NM_016545 IER5 EXON Missense_G253E exm2250338 1 181116023 [T/C] exm2259880 1 181384078 [T/G] exm128763 1 181701810 [A/G] NM_001205293,NM_000721,NM_001205294 CACNA1E,CACNA1E,CACNA1E EXON Missense_R863Q,Missense_R863Q,Missense_R844Q exm128767 1 181701903 [T/C] NM_001205293,NM_000721,NM_001205294 CACNA1E,CACNA1E,CACNA1E EXON Missense_P894L,Missense_P894L,Missense_P875L exm128770 1 181701978 [A/G] NM_001205293,NM_000721,NM_001205294 CACNA1E,CACNA1E,CACNA1E EXON Missense_R919Q,Missense_R919Q,Missense_R900Q exm128772 1 181701987 [A/G] NM_001205293,NM_000721,NM_001205294 CACNA1E,CACNA1E,CACNA1E EXON Missense_R922Q,Missense_R922Q,Missense_R903Q exm128789 1 181702689 [T/C] NM_001205293,NM_000721,NM_001205294 CACNA1E,CACNA1E,CACNA1E EXON Missense_T1022M,Missense_T1022M,Missense_T1003M exm1740150 1 181754870 [T/C] NM_001205293,NM_000721,NM_001205294 CACNA1E,CACNA1E,CACNA1E EXON Missense_R1901C,Missense_R1901C,Missense_R1882C exm128871 1 181754879 [A/C] NM_001205293,NM_000721,NM_001205294 CACNA1E,CACNA1E,CACNA1E EXON Missense_P1904T,Missense_P1904T,Missense_P1885T exm128872 1 181754880 [T/C] NM_001205293,NM_000721,NM_001205294 CACNA1E,CACNA1E,CACNA1E EXON Missense_P1904L,Missense_P1904L,Missense_P1885L exm128885 1 181759657 [A/G] NM_001205293,NM_000721,NM_001205294 CACNA1E,CACNA1E,CACNA1E EXON Missense_A1955T,Missense_A1955T,Missense_A1936T exm128904 1 181765920 [G/C] NM_001205293,NM_000721,NM_001205294 CACNA1E,CACNA1E,CACNA1E EXON Missense_A2109P,Missense_A2066P,Missense_A2047P exm128913 1 181767498 [A/G] NM_001205293,NM_000721,NM_001205294 CACNA1E,CACNA1E,CACNA1E EXON Missense_R2157Q,Missense_R2114Q,Missense_R2095Q exm128919 1 181767543 [A/G] NM_001205293,NM_000721,NM_001205294 CACNA1E,CACNA1E,CACNA1E EXON Missense_Y2172C,Missense_Y2129C,Missense_Y2110C exm128923 1 181767564 [T/C] NM_001205293,NM_000721,NM_001205294 CACNA1E,CACNA1E,CACNA1E EXON Missense_A2179V,Missense_A2136V,Missense_A2117V exm128929 1 181767653 [A/G] NM_001205293,NM_000721,NM_001205294 CACNA1E,CACNA1E,CACNA1E EXON Missense_E2209K,Missense_E2166K,Missense_E2147K exm128932 1 181767749 [A/G] NM_001205293,NM_000721,NM_001205294 CACNA1E,CACNA1E,CACNA1E EXON Missense_A2241T,Missense_A2198T,Missense_A2179T exm128935 1 181767860 [A/G] NM_001205293,NM_000721,NM_001205294 CACNA1E,CACNA1E,CACNA1E EXON Missense_M2278V,Missense_M2235V,Missense_M2216V exm2250341 1 181778329 [A/C] exm128941 1 182025483 [T/C] NM_001009992 ZNF648 EXON Missense_G555S exm128945 1 182025567 [T/C] NM_001009992 ZNF648 EXON Missense_N527D exm128950 1 182025710 [A/G] NM_001009992 ZNF648 EXON Missense_T479M exm128963 1 182026013 [T/G] NM_001009992 ZNF648 EXON Nonsense_S378X exm128965 1 182026052 [C/G] NM_001009992 ZNF648 EXON Missense_P365R exm128967 1 182026104 [A/C] NM_001009992 ZNF648 EXON Missense_S348A exm128972 1 182026303 [T/G] NM_001009992 ZNF648 EXON Nonsense_C281X exm1740181 1 182026586 [C/G] NM_001009992 ZNF648 EXON Missense_S187C exm128985 1 182026596 [T/C] NM_001009992 ZNF648 EXON Missense_A184T exm128992 1 182026813 [G/C] NM_001009992 ZNF648 EXON Missense_N111K exm1740183 1 182026840 [A/C] NM_001009992 ZNF648 EXON Missense_S102R exm128995 1 182026875 [G/C] NM_001009992 ZNF648 EXON Missense_G91R exm128999 1 182026914 [T/C] NM_001009992 ZNF648 EXON Missense_E78K exm129002 1 182027022 [T/C] NM_001009992 ZNF648 EXON Missense_E42K exm129006 1 182027144 [T/A] NM_001009992 ZNF648 EXON Missense_M1K exm-rs1689800 1 182168885 [A/G] exm2264928 1 182333131 [A/G] exm129021 1 182353781 [A/C] NM_001033056,NM_002065,NM_001033044 GLUL,GLUL,GLUL EXON Missense_L294R,Missense_L294R,Missense_L294R exm129048 1 182355519 [A/G] NM_001033056,NM_002065,NM_001033044 GLUL,GLUL,GLUL EXON Missense_T116I,Missense_T116I,Missense_T116I exm129069 1 182369039 [T/G] NM_172000 TEDDM1 EXON Missense_D194E exm129073 1 182369105 [T/C] NM_172000 TEDDM1 EXON Missense_M172I exm129077 1 182369233 [A/G] NM_172000 TEDDM1 EXON Missense_Y130H exm129079 1 182369272 [A/G] NM_172000 TEDDM1 EXON Missense_S117P exm129090 1 182369460 [A/G] NM_172000 TEDDM1 EXON Missense_L54P exm129100 1 182423094 [T/G] NM_001137669 RGSL1 EXON Missense_E5D exm129102 1 182423146 [A/G] NM_001137669 RGSL1 EXON Missense_D23N exm129103 1 182429146 [A/G] NM_001137669 RGSL1 EXON Missense_K60R exm129110 1 182442758 [A/G] NM_001137669 RGSL1 EXON Missense_R171K exm129114 1 182442910 [A/G] NM_001137669 RGSL1 EXON Missense_V222I exm129117 1 182443014 [G/C] NM_001137669 RGSL1 EXON Missense_W256C exm2231986 1 182443393 [A/C] NM_001137669 RGSL1 EXON Missense_P383T exm129130 1 182443489 [T/A] NM_001137669 RGSL1 EXON Missense_N415Y exm129137 1 182458122 [A/G] NM_001137669 RGSL1 EXON Missense_N501S exm129155 1 182499457 [T/C] NM_001137669 RGSL1 EXON Missense_T735M exm129157 1 182499943 [C/G] NM_001137669 RGSL1 EXON Missense_D754E exm129158 1 182499956 [T/C] NM_001137669 RGSL1 EXON Missense_H759Y exm129159 1 182499957 [A/G] NM_001137669 RGSL1 EXON Missense_H759R exm2231988 1 182509484 [A/G] NM_001137669 RGSL1 EXON Missense_R866H exm129185 1 182520258 [A/G] NM_001137669 RGSL1 EXON Missense_R986H exm129199 1 182544687 [A/G] NM_021133 RNASEL EXON Missense_S689F exm1740259 1 182545436 [A/C] NM_021133 RNASEL EXON Missense_F665C exm1740268 1 182550360 [T/C] NM_021133 RNASEL EXON Synonymous_K635K exm129204 1 182550385 [T/C] NM_021133 RNASEL EXON Missense_K627R exm2231990 1 182550393 [T/G] NM_021133 RNASEL EXON Missense_E624D exm129205 1 182550418 [C/G] NM_021133 RNASEL EXON Missense_R616T exm129212 1 182550481 [A/G] NM_021133 RNASEL EXON Missense_T595M exm129215 1 182551266 [T/C] NM_021133 RNASEL EXON Missense_R565H exm129221 1 182551329 [T/G] NM_021133 RNASEL EXON Missense_A544D exm129222 1 182551337 [A/C] NM_021133 RNASEL EXON Missense_D541E exm129232 1 182554557 [T/C] NM_021133 RNASEL EXON Missense_R462Q exm129239 1 182554708 [C/G] NM_021133 RNASEL EXON Missense_R412G exm129240 1 182554725 [A/G] NM_021133 RNASEL EXON Missense_S406F exm129242 1 182554743 [C/G] NM_021133 RNASEL EXON Missense_R400P exm129252 1 182555062 [T/C] NM_021133 RNASEL EXON Missense_K294E exm129256 1 182555149 [A/C] NM_021133 RNASEL EXON Nonsense_E265X exm129276 1 182555640 [A/G] NM_021133 RNASEL EXON Missense_I101T exm129278 1 182555653 [T/G] NM_021133 RNASEL EXON Missense_I97L exm2273725 1 182555709 [A/G] NM_021133 RNASEL EXON Missense_L78P exm1740290 1 182555747 [A/G] NM_021133 RNASEL EXON Synonymous_N65N exm129286 1 182555767 [T/C] NM_021133 RNASEL EXON Missense_G59S exm129305 1 182569501 [A/C] NM_002928 RGS16 EXON Missense_D179Y exm129309 1 182569558 [A/G] NM_002928 RGS16 EXON Missense_R160C exm129312 1 182569626 [T/C] NM_002928 RGS16 EXON Missense_H137R exm129313 1 182569627 [A/G] NM_002928 RGS16 EXON Missense_H137Y exm129317 1 182571142 [C/G] NM_002928 RGS16 EXON Missense_Q116E exm129318 1 182571193 [T/C] NM_002928 RGS16 EXON Missense_E99K exm2265062 1 182584206 [A/G] exm129341 1 182617348 [A/G] NM_001102450,NM_033345 RGS8,RGS8 EXON Missense_T95I,Missense_T113I exm129342 1 182617370 [T/C] NM_001102450,NM_033345 RGS8,RGS8 EXON Missense_A88T,Missense_A106T exm129362 1 182640864 [T/C] NM_001102450,NM_033345 RGS8,RGS8 EXON Silent,Missense_N3S exm129372 1 182763556 [T/C] NM_001200050,NM_001200056,NM_001200052,NM_001200051,NM_030769 NPL,NPL,NPL,NPL,NPL EXON Silent,Missense_T17M,Missense_T17M,Missense_T17M,Missense_T17M exm1740386 1 182772897 [A/G] NM_001200050,NM_001200056,NM_001200052,NM_001200051,NM_030769 NPL,NPL,NPL,NPL,NPL EXON Silent,Missense_N45D,Missense_N45D,Missense_N45D,Missense_N45D exm129388 1 182781313 [A/G] NM_001200050,NM_001200056,NM_001200052,NM_001200051,NM_030769 NPL,NPL,NPL,NPL,NPL EXON Missense_V66I,Missense_V85I,Missense_V85I,Missense_V85I,Missense_V85I exm129396 1 182785882 [G/C] NM_001200050,NM_001200056,NM_001200052,NM_001200051,NM_030769 NPL,NPL,NPL,NPL,NPL EXON Missense_A114G,Missense_A133G,Missense_A133G,Missense_A133G,Missense_A133G exm129398 1 182785893 [C/G] NM_001200050,NM_001200056,NM_001200052,NM_001200051,NM_030769 NPL,NPL,NPL,NPL,NPL EXON Missense_A118P,Missense_A137P,Missense_A137P,Missense_A137P,Missense_A137P exm129400 1 182785920 [A/C] NM_001200050,NM_001200056,NM_001200052,NM_001200051,NM_030769 NPL,NPL,NPL,NPL,NPL EXON Missense_P127T,Missense_P146T,Missense_P146T,Missense_P146T,Missense_P146T exm129402 1 182787685 [A/C] NM_001200050,NM_001200056,NM_001200052,NM_001200051,NM_030769 NPL,NPL,NPL,NPL,NPL EXON Missense_E137A,Missense_E156A,Missense_E156A,Missense_E156A,Missense_E156A exm129410 1 182787816 [A/G] NM_001200050,NM_001200056,NM_001200052,NM_001200051,NM_030769 NPL,NPL,NPL,NPL,NPL EXON Missense_V181M,Missense_V200M,Missense_V200M,Missense_V200M,Missense_V200M exm129418 1 182787975 [C/G] NM_001200050,NM_001200056,NM_001200052,NM_001200051,NM_030769 NPL,NPL,NPL,NPL,NPL EXON Missense_A193P,Missense_A212P,Missense_A212P,Silent,Missense_A212P exm129434 1 182797946 [T/C] NM_001200050,NM_001200056,NM_001200052,NM_001200051,NM_030769 NPL,NPL,NPL,NPL,NPL EXON Missense_S270F,Silent,Silent,Silent,Missense_S289F exm129496 1 182850399 [T/C] NM_001357,NR_033302 DHX9,DHX9 EXON Synonymous_Y875Y,Silent exm2265063 1 182854200 [A/G] NM_001357,NR_033302 DHX9,DHX9 Silent,Silent exm129526 1 182869122 [T/C] NM_030933 SHCBP1L EXON Missense_S653N exm129529 1 182869224 [T/G] NM_030933 SHCBP1L EXON Missense_K619T exm129531 1 182869312 [A/G] NM_030933 SHCBP1L EXON Missense_Y590H exm129539 1 182873340 [T/G] NM_030933 SHCBP1L EXON Missense_T521K exm129541 1 182873431 [T/C] NM_030933 SHCBP1L EXON Missense_V491M exm129545 1 182873562 [A/G] NM_030933 SHCBP1L EXON Missense_V447A exm129547 1 182874667 [T/G] NM_030933 SHCBP1L EXON Missense_N434H exm129554 1 182898813 [T/G] NM_030933 SHCBP1L EXON Missense_H384P exm129555 1 182898852 [T/C] NM_030933 SHCBP1L EXON Missense_R371H exm2231994 1 182898874 [A/G] NM_030933 SHCBP1L EXON Missense_F364L exm129568 1 182908446 [T/C] NM_030933 SHCBP1L EXON Missense_R314H exm129571 1 182908486 [A/G] NM_030933 SHCBP1L EXON Nonsense_Q301X exm129574 1 182908512 [T/G] NM_030933 SHCBP1L EXON Missense_D292A exm129577 1 182909488 [A/G] NM_030933 SHCBP1L EXON Missense_I249T exm129585 1 182920569 [C/G] NM_030933 SHCBP1L EXON Missense_L147V exm129586 1 182920575 [T/C] NM_030933 SHCBP1L EXON Missense_K145E exm129599 1 182922215 [T/G] NM_030933 SHCBP1L EXON Missense_S18R exm2264929 1 182973491 [A/G] exm129612 1 182993159 [T/C] NM_002293 LAMC1 EXON Missense_A103V exm129634 1 183072751 [A/G] NM_002293 LAMC1 EXON Missense_N236S exm129645 1 183079691 [A/G] NM_002293 LAMC1 EXON Missense_K308R exm129649 1 183079729 [T/C] NM_002293 LAMC1 EXON Missense_P321S exm2273726 1 183083801 [A/T] NM_002293 LAMC1 EXON Missense_F386Y exm129660 1 183084676 [A/G] NM_002293 LAMC1 EXON Missense_D411G exm129667 1 183085755 [A/G] NM_002293 LAMC1 EXON Missense_I458V exm129669 1 183085922 [A/T] NM_002293 LAMC1 EXON Missense_N483I exm129673 1 183085942 [T/C] NM_002293 LAMC1 EXON Missense_R490W exm129675 1 183086017 [A/G] NM_002293 LAMC1 EXON Missense_I515V exm129676 1 183086026 [A/G] NM_002293 LAMC1 EXON Missense_T518A exm129679 1 183086470 [T/G] NM_002293 LAMC1 EXON Missense_R527L exm129682 1 183086486 [T/G] NM_002293 LAMC1 EXON Missense_D532E exm129684 1 183086509 [T/G] NM_002293 LAMC1 EXON Missense_W540L exm1740621 1 183086559 [T/C] NM_002293 LAMC1 EXON Missense_R557W exm129704 1 183090920 [A/G] NM_002293 LAMC1 EXON Missense_T685A exm129706 1 183091040 [A/G] NM_002293 LAMC1 EXON Missense_A725T exm129707 1 183091058 [A/G] NM_002293 LAMC1 EXON Missense_E731K exm129724 1 183093841 [A/G] NM_002293 LAMC1 EXON Missense_R826H exm129731 1 183094547 [T/C] NM_002293 LAMC1 EXON Missense_L888P exm129735 1 183094585 [A/G] NM_002293 LAMC1 EXON Missense_V901M exm129739 1 183094645 [C/G] NM_002293 LAMC1 EXON Missense_P921A exm129746 1 183095375 [T/G] NM_002293 LAMC1 EXON Synonymous_G974G exm2250353 1 183095375 [T/G] NM_002293 LAMC1 EXON Synonymous_G974G exm129755 1 183096448 [A/G] NM_002293 LAMC1 EXON Missense_R1011H exm129757 1 183096481 [A/G] NM_002293 LAMC1 EXON Missense_N1022S exm129758 1 183096499 [A/G] NM_002293 LAMC1 EXON Missense_C1028Y exm129759 1 183096522 [T/C] NM_002293 LAMC1 EXON Missense_R1036W exm129776 1 183099542 [C/G] NM_002293 LAMC1 EXON Missense_S1115T exm129778 1 183099560 [A/G] NM_002293 LAMC1 EXON Missense_R1121Q exm129782 1 183099605 [T/C] NM_002293 LAMC1 EXON Missense_A1136V exm2250354 1 183099657 [A/G] NM_002293 LAMC1 EXON Synonymous_E1153E exm1740657 1 183099670 [A/G] NM_002293 LAMC1 EXON Missense_A1158T exm129788 1 183100512 [T/C] NM_002293 LAMC1 EXON Missense_R1189C exm129792 1 183101582 [A/G] NM_002293 LAMC1 EXON Missense_N1205S exm129793 1 183101599 [A/G] NM_002293 LAMC1 EXON Missense_A1211T exm129803 1 183102632 [A/G] NM_002293 LAMC1 EXON Missense_E1266K exm1740666 1 183102663 [G/C] NM_002293 LAMC1 EXON Missense_P1276R exm129826 1 183105709 [A/G] NM_002293 LAMC1 EXON Missense_A1435T exm2264930 1 183106739 [A/G] NM_002293 LAMC1 Silent exm2232001 1 183106849 [A/G] NM_002293 LAMC1 EXON Missense_V1454I exm129839 1 183111759 [A/C] NM_002293 LAMC1 EXON Missense_D1555A exm-rs1028771 1 183170948 [A/C] NM_005562,NM_018891 LAMC2,LAMC2 Silent,Silent exm-rs525410 1 183176430 [A/G] NM_005562,NM_018891 LAMC2,LAMC2 Silent,Silent exm129858 1 183177132 [A/G] NM_005562,NM_018891 LAMC2,LAMC2 EXON Missense_E66K,Missense_E66K exm129867 1 183184621 [A/G] NM_005562,NM_018891 LAMC2,LAMC2 EXON Missense_R101Q,Missense_R101Q exm129869 1 183184650 [C/G] NM_005562,NM_018891 LAMC2,LAMC2 EXON Missense_A111P,Missense_A111P exm129872 1 183184662 [G/C] NM_005562,NM_018891 LAMC2,LAMC2 EXON Missense_R115G,Missense_R115G exm129875 1 183184690 [T/C] NM_005562,NM_018891 LAMC2,LAMC2 EXON Missense_T124M,Missense_T124M exm2232003 1 183187575 [T/C] NM_005562,NM_018891 LAMC2,LAMC2 EXON Missense_A152V,Missense_A152V exm129886 1 183187613 [T/C] NM_005562,NM_018891 LAMC2,LAMC2 EXON Missense_R165C,Missense_R165C exm129887 1 183189965 [T/G] NM_005562,NM_018891 LAMC2,LAMC2 EXON Missense_R170L,Missense_R170L exm129889 1 183190045 [T/C] NM_005562,NM_018891 LAMC2,LAMC2 EXON Missense_R197C,Missense_R197C exm129890 1 183190055 [A/C] NM_005562,NM_018891 LAMC2,LAMC2 EXON Missense_A200E,Missense_A200E exm129893 1 183191262 [T/C] NM_005562,NM_018891 LAMC2,LAMC2 EXON Missense_P227S,Missense_P227S exm2232004 1 183192273 [A/G] NM_005562,NM_018891 LAMC2,LAMC2 EXON Missense_K256R,Missense_K256R exm129903 1 183192389 [T/C] NM_005562,NM_018891 LAMC2,LAMC2 EXON Missense_R295W,Missense_R295W exm129904 1 183192390 [A/G] NM_005562,NM_018891 LAMC2,LAMC2 EXON Missense_R295Q,Missense_R295Q exm129905 1 183192395 [A/G] NM_005562,NM_018891 LAMC2,LAMC2 EXON Missense_T297A,Missense_T297A exm129912 1 183194744 [T/C] NM_005562,NM_018891 LAMC2,LAMC2 EXON Synonymous_L319L,Synonymous_L319L exm129920 1 183195913 [A/G] NM_005562,NM_018891 LAMC2,LAMC2 EXON Missense_I383V,Missense_I383V exm1740727 1 183195980 [T/C] NM_005562,NM_018891 LAMC2,LAMC2 EXON Missense_A405V,Missense_A405V exm129927 1 183196682 [A/G] NM_005562,NM_018891 LAMC2,LAMC2 EXON Missense_I440V,Missense_I440V exm129940 1 183196831 [T/C] NM_005562,NM_018891 LAMC2,LAMC2 EXON Synonymous_T489T,Synonymous_T489T exm129942 1 183197595 [T/C] NM_005562,NM_018891 LAMC2,LAMC2 EXON Missense_C519R,Missense_C519R exm129946 1 183197677 [A/C] NM_005562,NM_018891 LAMC2,LAMC2 EXON Missense_A546D,Missense_A546D exm129951 1 183200177 [T/G] NM_005562,NM_018891 LAMC2,LAMC2 EXON Missense_G599V,Missense_G599V exm129954 1 183200188 [A/G] NM_005562,NM_018891 LAMC2,LAMC2 EXON Missense_E603K,Missense_E603K exm1740740 1 183201336 [A/G] NM_005562,NM_018891 LAMC2,LAMC2 EXON Missense_M624I,Missense_M624I exm129970 1 183201853 [A/G] NM_005562,NM_018891 LAMC2,LAMC2 EXON Missense_R694H,Missense_R694H exm129971 1 183201877 [T/G] NM_005562,NM_018891 LAMC2,LAMC2 EXON Missense_V702G,Missense_V702G exm129973 1 183201922 [A/G] NM_005562,NM_018891 LAMC2,LAMC2 EXON Missense_R717Q,Missense_R717Q exm129979 1 183204796 [T/C] NM_005562,NM_018891 LAMC2,LAMC2 EXON Missense_A796V,Missense_A796V exm129984 1 183204831 [C/G] NM_005562,NM_018891 LAMC2,LAMC2 EXON Missense_P808A,Missense_P808A exm129990 1 183205654 [T/G] NM_005562,NM_018891 LAMC2,LAMC2 EXON Missense_I839S,Missense_I839S exm130002 1 183206566 [A/G] NM_005562,NM_018891 LAMC2,LAMC2 EXON Missense_R894H,Missense_R894H exm130008 1 183207460 [A/T] NM_005562,NM_018891 LAMC2,LAMC2 EXON Missense_S925T,Missense_S925T exm130041 1 183212369 [A/G] NM_005562 LAMC2 EXON Missense_R1139Q exm2273342 1 183212548 [T/G] NM_005562 LAMC2 EXON Silent exm130051 1 183221878 [T/C] NM_015039,NM_170706 NMNAT2,NMNAT2 EXON Synonymous_R274R,Synonymous_R269R exm130063 1 183253173 [A/G] NM_015039,NM_170706 NMNAT2,NMNAT2 EXON Synonymous_D177D,Synonymous_D172D exm130075 1 183255908 [T/C] NM_015039,NM_170706 NMNAT2,NMNAT2 EXON Missense_I113V,Missense_I108V exm130093 1 183485010 [T/C] NM_201569,NM_173156,NM_201568,NM_001174061 SMG7,SMG7,SMG7,SMG7 EXON Synonymous_D21D,Synonymous_D21D,Synonymous_D21D,Silent exm130107 1 183495812 [A/G] NM_201569,NM_173156,NM_201568,NM_001174061 SMG7,SMG7,SMG7,SMG7 EXON Missense_K132E,Missense_K132E,Missense_K132E,Missense_K90E exm130110 1 183495830 [A/G] NM_201569,NM_173156,NM_201568,NM_001174061 SMG7,SMG7,SMG7,SMG7 EXON Missense_A138T,Missense_A138T,Missense_A138T,Missense_A96T exm130117 1 183498535 [A/G] NM_201569,NM_173156,NM_201568,NM_001174061 SMG7,SMG7,SMG7,SMG7 EXON Missense_R237Q,Missense_R237Q,Missense_R237Q,Missense_R195Q exm1740818 1 183498580 [T/C] NM_201569,NM_173156,NM_201568,NM_001174061 SMG7,SMG7,SMG7,SMG7 EXON Missense_A252V,Missense_A252V,Missense_A252V,Missense_A210V exm130128 1 183502880 [A/G] NM_201569,NM_173156,NM_201568,NM_001174061 SMG7,SMG7,SMG7,SMG7 EXON Missense_Y359C,Missense_Y359C,Missense_Y359C,Missense_Y317C exm2232008 1 183502945 [T/G] NM_201569,NM_173156,NM_201568,NM_001174061 SMG7,SMG7,SMG7,SMG7 EXON Missense_A381S,Missense_A381S,Missense_A381S,Missense_A339S exm130144 1 183511350 [C/G] NM_201569,NM_173156,NM_201568,NM_001174061 SMG7,SMG7,SMG7,SMG7 EXON Missense_G519R,Missense_G519R,Missense_G519R,Missense_G477R exm130158 1 183514112 [A/G] NM_201569,NM_173156,NM_201568,NM_001174061 SMG7,SMG7,SMG7,SMG7 EXON Missense_M633V,Missense_M679V,Missense_M633V,Missense_M637V exm1740835 1 183514262 [A/G] NM_201569,NM_173156,NM_201568,NM_001174061 SMG7,SMG7,SMG7,SMG7 EXON Missense_M683V,Missense_M729V,Missense_M683V,Missense_M687V exm1740836 1 183514391 [A/C] NM_201569,NM_173156,NM_201568,NM_001174061 SMG7,SMG7,SMG7,SMG7 EXON Missense_T726P,Missense_T772P,Missense_T726P,Missense_T730P exm130185 1 183515428 [A/G] NM_201569,NM_173156,NM_201568,NM_001174061 SMG7,SMG7,SMG7,SMG7 EXON Missense_V854I,Missense_V900I,Missense_V854I,Missense_V858I exm130190 1 183516241 [T/C] NM_201569,NM_173156,NM_201568,NM_001174061 SMG7,SMG7,SMG7,SMG7 EXON Missense_P870S,Silent,Silent,Missense_P874S exm130206 1 183520043 [A/C] NM_201569,NM_173156,NM_201568,NM_001174061 SMG7,SMG7,SMG7,SMG7 EXON Missense_K1051N,Missense_K1047N,Missense_K1001N,Missense_K1055N exm130207 1 183520048 [T/A] NM_201569,NM_173156,NM_201568,NM_001174061 SMG7,SMG7,SMG7,SMG7 EXON Missense_D1053V,Missense_D1049V,Missense_D1003V,Missense_D1057V exm130211 1 183520215 [A/G] NM_201569,NM_173156,NM_201568,NM_001174061 SMG7,SMG7,SMG7,SMG7 EXON Missense_T1068A,Missense_T1064A,Missense_T1018A,Missense_T1072A exm130212 1 183520216 [T/C] NM_201569,NM_173156,NM_201568,NM_001174061 SMG7,SMG7,SMG7,SMG7 EXON Missense_T1068M,Missense_T1064M,Missense_T1018M,Missense_T1072M exm130222 1 183525282 [C/G] NM_001190794,NM_001190789,NM_001127651,NM_000433 NCF2,NCF2,NCF2,NCF2 EXON Missense_D473H,Missense_D437H,Missense_D518H,Missense_D518H exm130227 1 183529339 [A/G] NM_001190794,NM_001190789,NM_001127651,NM_000433 NCF2,NCF2,NCF2,NCF2 EXON Missense_P409S,Missense_P373S,Missense_P454S,Missense_P454S exm130230 1 183532364 [T/A] NM_001190794,NM_001190789,NM_001127651,NM_000433 NCF2,NCF2,NCF2,NCF2 EXON Missense_N374I,Missense_N338I,Missense_N419I,Missense_N419I exm130236 1 183532436 [T/C] NM_001190794,NM_001190789,NM_001127651,NM_000433 NCF2,NCF2,NCF2,NCF2 EXON Missense_R350Q,Missense_R314Q,Missense_R395Q,Missense_R395Q exm130237 1 183532437 [A/G] NM_001190794,NM_001190789,NM_001127651,NM_000433 NCF2,NCF2,NCF2,NCF2 EXON Missense_R350W,Missense_R314W,Missense_R395W,Missense_R395W exm130239 1 183532580 [T/G] NM_001190794,NM_001190789,NM_001127651,NM_000433 NCF2,NCF2,NCF2,NCF2 EXON Missense_H344Q,Missense_H308Q,Missense_H389Q,Missense_H389Q exm130240 1 183532590 [T/C] NM_001190794,NM_001190789,NM_001127651,NM_000433 NCF2,NCF2,NCF2,NCF2 EXON Missense_R341Q,Missense_R305Q,Missense_R386Q,Missense_R386Q exm130243 1 183532666 [T/A] NM_001190794,NM_001190789,NM_001127651,NM_000433 NCF2,NCF2,NCF2,NCF2 EXON Missense_T316S,Missense_T280S,Missense_T361S,Missense_T361S exm130253 1 183534901 [A/G] NM_001190794,NM_001190789,NM_001127651,NM_000433 NCF2,NCF2,NCF2,NCF2 EXON Missense_P268L,Missense_P232L,Missense_P313L,Missense_P313L exm130257 1 183536089 [A/G] NM_001190794,NM_001190789,NM_001127651,NM_000433 NCF2,NCF2,NCF2,NCF2 EXON Missense_V252A,Missense_V216A,Missense_V297A,Missense_V297A exm130259 1 183536358 [A/G] NM_001190794,NM_001190789,NM_001127651,NM_000433 NCF2,NCF2,NCF2,NCF2 EXON Missense_T234M,Missense_T198M,Missense_T279M,Missense_T279M exm130264 1 183538298 [A/G] NM_001190794,NM_001190789,NM_001127651,NM_000433 NCF2,NCF2,NCF2,NCF2 EXON Missense_P186L,Missense_P150L,Missense_P231L,Missense_P231L exm2250359 1 183542323 [T/C] NM_001190794,NM_001190789,NM_001127651,NM_000433 NCF2,NCF2,NCF2,NCF2 EXON Synonymous_A157A,Silent,Synonymous_A202A,Synonymous_A202A exm130272 1 183542366 [T/C] NM_001190794,NM_001190789,NM_001127651,NM_000433 NCF2,NCF2,NCF2,NCF2 EXON Missense_R143K,Silent,Missense_R188K,Missense_R188K exm130273 1 183542387 [T/C] NM_001190794,NM_001190789,NM_001127651,NM_000433 NCF2,NCF2,NCF2,NCF2 EXON Missense_K136R,Silent,Missense_K181R,Missense_K181R exm130289 1 183559352 [T/C] NM_001190794,NM_001190789,NM_001127651,NM_000433 NCF2,NCF2,NCF2,NCF2 EXON Missense_R38Q,Missense_R38Q,Missense_R38Q,Missense_R38Q exm130314 1 183602251 [T/C] NM_005717,NM_001270439 ARPC5,ARPC5 EXON Missense_N61S,Missense_N64S exm130326 1 183616866 [A/G] NM_015149,NM_203454 RGL1,APOBEC4 EXON Silent,Missense_F351L exm130327 1 183616884 [T/C] NM_015149,NM_203454 RGL1,APOBEC4 EXON Silent,Missense_V345M exm130329 1 183616926 [T/C] NM_015149,NM_203454 RGL1,APOBEC4 EXON Silent,Missense_K331E exm130330 1 183616956 [T/C] NM_015149,NM_203454 RGL1,APOBEC4 EXON Silent,Missense_N321D exm130333 1 183617018 [T/C] NM_015149,NM_203454 RGL1,APOBEC4 EXON Silent,Missense_D300G exm130337 1 183617094 [A/G] NM_015149,NM_203454 RGL1,APOBEC4 EXON Silent,Missense_P275S exm130338 1 183617105 [A/G] NM_015149,NM_203454 RGL1,APOBEC4 EXON Silent,Missense_F271S exm130344 1 183617288 [A/G] NM_015149,NM_203454 RGL1,APOBEC4 EXON Silent,Missense_V210A exm2250360 1 183617311 [T/A] NM_015149,NM_203454 RGL1,APOBEC4 EXON Silent,Synonymous_I202I exm130348 1 183617330 [G/C] NM_015149,NM_203454 RGL1,APOBEC4 EXON Silent,Missense_S196C exm2232013 1 183617475 [A/T] NM_015149,NM_203454 RGL1,APOBEC4 EXON Silent,Missense_I148F exm130362 1 183617643 [T/C] NM_015149,NM_203454 RGL1,APOBEC4 EXON Silent,Missense_I92V exm130363 1 183617654 [G/C] NM_015149,NM_203454 RGL1,APOBEC4 EXON Silent,Missense_T88S exm130365 1 183617693 [A/G] NM_015149,NM_203454 RGL1,APOBEC4 EXON Silent,Missense_S75F exm2268793 1 183808474 [T/G] NM_015149 RGL1 Silent exm130389 1 183835130 [A/G] NM_015149 RGL1 EXON Synonymous_R151R exm-rs4651156 1 183837032 [A/G] NM_015149 RGL1 Silent exm130400 1 183849869 [G/C] NM_015149 RGL1 EXON Missense_S217C exm130403 1 183849907 [T/C] NM_015149 RGL1 EXON Missense_F230L exm-rs10797919 1 183852914 [G/C] NM_015149 RGL1 Silent exm130415 1 183854023 [A/G] NM_015149 RGL1 EXON Missense_K336R exm2273727 1 183854067 [A/G] NM_015149 RGL1 EXON Missense_A351T exm130447 1 183881368 [T/C] NM_015149 RGL1 EXON Missense_T607I exm130471 1 183895347 [A/G] NM_015149 RGL1 EXON Missense_R778H exm2232016 1 183895383 [A/G] NM_015149 RGL1 EXON Missense_K790R exm130477 1 183907968 [T/C] NM_015101 GLT25D2 EXON Missense_S603N exm130478 1 183907978 [A/G] NM_015101 GLT25D2 EXON Missense_R600C exm130479 1 183907989 [T/C] NM_015101 GLT25D2 EXON Missense_R596Q exm1740992 1 183907990 [A/G] NM_015101 GLT25D2 EXON Missense_R596W exm2232017 1 183908020 [T/C] NM_015101 GLT25D2 EXON Missense_D586N exm130480 1 183908026 [T/C] NM_015101 GLT25D2 EXON Missense_A584T exm130487 1 183909728 [T/C] NM_015101 GLT25D2 EXON Missense_N531D exm130490 1 183909818 [T/C] NM_015101 GLT25D2 EXON Missense_V501I exm130502 1 183913447 [T/C] NM_015101 GLT25D2 EXON Missense_R427Q exm1741004 1 183914577 [T/C] NM_015101 GLT25D2 EXON Missense_V420I exm130507 1 183914627 [A/G] NM_015101 GLT25D2 EXON Missense_S403F exm130511 1 183914681 [A/T] NM_015101 GLT25D2 EXON Missense_Q385L exm2250362 1 183918820 [T/G] NM_015101 GLT25D2 Silent exm1741008 1 183920187 [A/G] NM_015101 GLT25D2 EXON Missense_Y364H exm1741009 1 183920208 [T/C] NM_015101 GLT25D2 EXON Missense_D357N exm130521 1 183923972 [A/G] NM_015101 GLT25D2 EXON Missense_I318T exm130527 1 183933115 [T/C] NM_015101 GLT25D2 EXON Missense_Y291C exm130531 1 183938447 [A/G] NM_015101 GLT25D2 EXON Missense_T263I exm130537 1 183938537 [A/G] NM_015101 GLT25D2 EXON Missense_P233L exm130540 1 183938555 [A/G] NM_015101 GLT25D2 EXON Missense_T227I exm130541 1 183938565 [A/G] NM_015101 GLT25D2 EXON Missense_W224R exm130550 1 183942838 [A/G] NM_015101 GLT25D2 EXON Missense_L180P exm130553 1 183942850 [T/G] NM_015101 GLT25D2 EXON Missense_Q176P exm130554 1 183944245 [A/C] NM_015101 GLT25D2 EXON Missense_S160A exm2259885 1 183979248 [T/C] NM_015101 GLT25D2 Silent exm1741031 1 184006362 [C/G] NM_015101 GLT25D2 EXON Missense_V44L exm130568 1 184006377 [T/C] NM_015101 GLT25D2 EXON Missense_G39R exm130570 1 184006427 [A/C] NM_015101 GLT25D2 EXON Missense_R22L exm-rs2274432 1 184020945 [A/G] NR_023349,NM_052965,NM_001127394 TSEN15,TSEN15,TSEN15 EXON Silent,Missense_G19D,Missense_G19D exm130582 1 184023529 [A/C] NR_023349,NM_052965,NM_001127394 TSEN15,TSEN15,TSEN15 EXON Silent,Missense_Q59H,Missense_Q59H exm2268957 1 184410702 [T/C] NM_030806 C1orf21 Silent exm130606 1 184446698 [G/C] NM_030806 C1orf21 EXON Missense_Q19E exm130610 1 184476805 [A/C] NM_030806 C1orf21 EXON Missense_Q60K exm130613 1 184567536 [A/G] NM_030806 C1orf21 EXON Missense_M90V exm2264931 1 184653521 [A/G] exm130626 1 184663288 [A/C] NM_025191 EDEM3 EXON Missense_W903L exm130634 1 184663537 [A/C] NM_025191 EDEM3 EXON Missense_I820S exm130646 1 184672098 [A/G] NM_025191 EDEM3 EXON Missense_P746S exm2273728 1 184680887 [A/T] NM_025191 EDEM3 EXON Missense_D554V exm1741102 1 184681571 [T/C] NM_025191 EDEM3 EXON Missense_N511S exm130697 1 184690424 [A/G] NM_025191 EDEM3 EXON Missense_T317I exm130707 1 184695486 [T/C] NM_025191 EDEM3 EXON Missense_R217Q exm1741120 1 184703729 [T/C] NM_025191 EDEM3 EXON Missense_R132G exm130739 1 184764167 [T/C] NM_052966 FAM129A EXON Missense_V911M exm130740 1 184764181 [C/G] NM_052966 FAM129A EXON Nonsense_S906X exm130742 1 184764197 [A/G] NM_052966 FAM129A EXON Missense_P901S exm130743 1 184764219 [T/C] NM_052966 FAM129A EXON Nonsense_W893X exm130745 1 184764238 [T/C] NM_052966 FAM129A EXON Missense_R887H exm1741135 1 184764287 [A/C] NM_052966 FAM129A EXON Missense_A871S exm130751 1 184764331 [T/C] NM_052966 FAM129A EXON Missense_S856N exm130759 1 184764457 [T/C] NM_052966 FAM129A EXON Missense_E814G exm130768 1 184764601 [T/C] NM_052966 FAM129A EXON Missense_S766N exm130772 1 184764680 [T/C] NM_052966 FAM129A EXON Missense_V740I exm130776 1 184764740 [T/C] NM_052966 FAM129A EXON Missense_V720M exm130779 1 184764824 [T/C] NM_052966 FAM129A EXON Missense_D692N exm130780 1 184764832 [T/G] NM_052966 FAM129A EXON Missense_T689N exm130785 1 184764908 [A/C] NM_052966 FAM129A EXON Missense_V664L exm130790 1 184765000 [A/G] NM_052966 FAM129A EXON Missense_S633L exm130811 1 184772736 [T/C] NM_052966 FAM129A EXON Missense_A513T exm130815 1 184775133 [T/C] NM_052966 FAM129A EXON Missense_E465K exm130820 1 184777287 [T/C] NM_052966 FAM129A EXON Missense_R419H exm130825 1 184787810 [T/G] NM_052966 FAM129A EXON Missense_N379H exm130827 1 184787831 [A/C] NM_052966 FAM129A EXON Nonsense_E372X exm130834 1 184792315 [A/G] NM_052966 FAM129A EXON Missense_I324T exm130840 1 184792432 [A/T] NM_052966 FAM129A EXON Missense_H285L exm130858 1 184801049 [T/C] NM_052966 FAM129A EXON Missense_V217M exm130860 1 184853765 [A/G] NM_052966 FAM129A Silent exm130866 1 184853857 [A/G] NM_052966 FAM129A EXON Missense_F171L exm130868 1 184853890 [T/C] NM_052966 FAM129A EXON Missense_K160E exm130874 1 184863215 [A/T] NM_052966 FAM129A EXON Missense_N104K exm130875 1 184863250 [C/G] NM_052966 FAM129A EXON Missense_V93L exm130879 1 184863330 [A/G] NM_052966 FAM129A EXON Missense_A66V exm130882 1 184868383 [T/C] NM_052966 FAM129A EXON Missense_A39T exm130890 1 184943476 [G/C] NM_052966 FAM129A EXON Missense_A5P exm130906 1 185069416 [A/G] NM_007212 RNF2 EXON Missense_T332A exm2273343 1 185069561 [A/G] NM_007212 RNF2 EXON Silent exm130908 1 185089203 [A/G] NM_001202423,NM_030934 TRMT1L,TRMT1L EXON Missense_V561A,Missense_V717A exm130919 1 185094084 [T/C] NM_001202423,NM_030934 TRMT1L,TRMT1L EXON Missense_N428S,Missense_N584S exm130935 1 185109202 [T/C] NM_001202423,NM_030934 TRMT1L,TRMT1L EXON Missense_D182N,Missense_D338N exm130940 1 185109327 [A/T] NM_001202423,NM_030934 TRMT1L,TRMT1L EXON Missense_H140L,Missense_H296L exm130947 1 185113120 [C/G] NM_001202423,NM_030934 TRMT1L,TRMT1L EXON Missense_D77H,Missense_D233H exm130948 1 185113152 [A/G] NM_001202423,NM_030934 TRMT1L,TRMT1L EXON Missense_A66V,Missense_A222V exm130960 1 185119609 [A/C] NM_001202423,NM_030934 TRMT1L,TRMT1L EXON Silent,Missense_C121F exm130966 1 185125619 [A/C] NM_001202423,NM_030934 TRMT1L,TRMT1L EXON Silent,Missense_A76S exm130968 1 185125633 [G/C] NM_001202423,NM_030934 TRMT1L,TRMT1L EXON Silent,Missense_S71C exm1741285 1 185130019 [A/G] NM_001105518,NM_017673 SWT1,SWT1 EXON Missense_K16E,Missense_K16E exm130985 1 185135747 [A/C] NM_001105518,NM_017673 SWT1,SWT1 EXON Missense_S43Y,Missense_S43Y exm131015 1 185143701 [T/G] NM_001105518,NM_017673 SWT1,SWT1 EXON Missense_G141V,Missense_G141V exm131016 1 185143721 [A/G] NM_001105518,NM_017673 SWT1,SWT1 EXON Missense_I148V,Missense_I148V exm131017 1 185143745 [A/G] NM_001105518,NM_017673 SWT1,SWT1 EXON Missense_I156V,Missense_I156V exm131021 1 185143824 [A/G] NM_001105518,NM_017673 SWT1,SWT1 EXON Missense_K182R,Missense_K182R exm131022 1 185143825 [T/G] NM_001105518,NM_017673 SWT1,SWT1 EXON Missense_K182N,Missense_K182N exm131027 1 185144000 [T/C] NM_001105518,NM_017673 SWT1,SWT1 EXON Missense_R241C,Missense_R241C exm131032 1 185144058 [T/C] NM_001105518,NM_017673 SWT1,SWT1 EXON Missense_S260L,Missense_S260L exm131034 1 185144099 [G/C] NM_001105518,NM_017673 SWT1,SWT1 EXON Missense_Q274E,Missense_Q274E exm131037 1 185144157 [A/G] NM_001105518,NM_017673 SWT1,SWT1 EXON Missense_Y293C,Missense_Y293C exm131038 1 185144162 [T/C] NM_001105518,NM_017673 SWT1,SWT1 EXON Missense_R295W,Missense_R295W exm131039 1 185144165 [T/A] NM_001105518,NM_017673 SWT1,SWT1 EXON Missense_T296S,Missense_T296S exm131043 1 185149547 [A/G] NM_001105518,NM_017673 SWT1,SWT1 EXON Missense_V331M,Missense_V331M exm131045 1 185151109 [A/G] NM_001105518,NM_017673 SWT1,SWT1 EXON Missense_R353H,Missense_R353H exm131051 1 185153461 [A/G] NM_001105518,NM_017673 SWT1,SWT1 EXON Missense_T409A,Missense_T409A exm131057 1 185153985 [A/C] NM_001105518,NM_017673 SWT1,SWT1 EXON Missense_H451N,Missense_H451N exm131066 1 185171869 [A/G] NM_001105518,NM_017673 SWT1,SWT1 EXON Missense_H536R,Missense_H536R exm131068 1 185173834 [A/G] NM_001105518,NM_017673 SWT1,SWT1 EXON Missense_T558A,Missense_T558A exm131072 1 185175837 [A/C] NM_001105518,NM_017673 SWT1,SWT1 EXON Missense_L638F,Missense_L638F exm1741309 1 185175856 [A/C] NM_001105518,NM_017673 SWT1,SWT1 EXON Missense_L645I,Missense_L645I exm131074 1 185175889 [T/C] NM_001105518,NM_017673 SWT1,SWT1 EXON Missense_R656C,Missense_R656C exm131091 1 185240474 [A/G] NM_001105518,NM_017673 SWT1,SWT1 EXON Missense_N821D,Missense_N821D exm131105 1 185267193 [T/G] NM_006469 IVNS1ABP EXON Missense_P635T exm131107 1 185267208 [A/G] NM_006469 IVNS1ABP EXON Missense_S630P exm131116 1 185268875 [A/C] NM_006469 IVNS1ABP EXON Missense_A548S exm131118 1 185268989 [A/G] NM_006469 IVNS1ABP EXON Missense_L510F exm131119 1 185269142 [A/G] NM_006469 IVNS1ABP EXON Missense_P497L exm131121 1 185269230 [T/C] NM_006469 IVNS1ABP EXON Missense_V468I exm131128 1 185269639 [T/C] NM_006469 IVNS1ABP EXON Missense_H391R exm131156 1 185278287 [T/C] NM_006469 IVNS1ABP EXON Missense_M43I exm2268795 1 185364104 [T/C] exm2263865 1 185484309 [A/C] exm131164 1 185703987 [T/C] NM_031935 HMCN1 EXON Missense_P26S exm131177 1 185833699 [A/G] NM_031935 HMCN1 EXON Missense_R146Q exm131182 1 185834976 [A/G] NM_031935 HMCN1 EXON Missense_D201G exm131185 1 185878545 [T/C] NM_031935 HMCN1 EXON Missense_V233A exm131189 1 185878632 [A/G] NM_031935 HMCN1 EXON Missense_N262S exm2259892 1 185886151 [A/G] NM_031935 HMCN1 Silent exm131200 1 185891569 [A/G] NM_031935 HMCN1 EXON Missense_R320Q exm131201 1 185891584 [A/G] NM_031935 HMCN1 EXON Missense_R325Q exm131219 1 185894295 [A/G] NM_031935 HMCN1 EXON Missense_V468I exm131223 1 185897727 [A/G] NM_031935 HMCN1 EXON Missense_E494K exm131226 1 185897782 [T/C] NM_031935 HMCN1 EXON Missense_T512I exm131228 1 185902710 [A/G] NM_031935 HMCN1 EXON Missense_N528D exm1741619 1 185902717 [T/C] NM_031935 HMCN1 EXON Missense_T530I exm131241 1 185931760 [A/G] NM_031935 HMCN1 EXON Missense_V647I exm131248 1 185934954 [T/G] NM_031935 HMCN1 EXON Missense_V707F exm131252 1 185934999 [A/G] NM_031935 HMCN1 EXON Missense_E722K exm131277 1 185951496 [A/G] NM_031935 HMCN1 EXON Missense_R922H exm131288 1 185956606 [T/C] NM_031935 HMCN1 EXON Missense_I993T exm131290 1 185956648 [A/T] NM_031935 HMCN1 EXON Missense_N1007I exm131295 1 185958737 [A/G] NM_031935 HMCN1 EXON Missense_T1056A exm131302 1 185959552 [T/G] NM_031935 HMCN1 EXON Missense_Q1118H exm131308 1 185962370 [A/G] NM_031935 HMCN1 EXON Missense_S1145N exm131311 1 185963964 [C/G] NM_031935 HMCN1 EXON Missense_R1175G exm131313 1 185963992 [T/C] NM_031935 HMCN1 EXON Missense_V1184A exm131321 1 185964136 [T/C] NM_031935 HMCN1 EXON Missense_T1232M exm131323 1 185964181 [T/C] NM_031935 HMCN1 EXON Missense_A1247V exm131325 1 185964205 [T/C] NM_031935 HMCN1 EXON Missense_T1255M exm1741671 1 185969311 [T/A] NM_031935 HMCN1 EXON Missense_I1337F exm131339 1 185970748 [A/C] NM_031935 HMCN1 EXON Missense_Q1408P exm131343 1 185972861 [A/G] NM_031935 HMCN1 EXON Missense_I1454V exm131345 1 185972906 [T/C] NM_031935 HMCN1 EXON Missense_R1469C exm131347 1 185972940 [T/C] NM_031935 HMCN1 EXON Missense_T1480I exm131356 1 185976370 [A/G] NM_031935 HMCN1 EXON Missense_N1529S exm131362 1 185984375 [A/G] NM_031935 HMCN1 EXON Missense_R1572Q exm131363 1 185984393 [A/C] NM_031935 HMCN1 EXON Missense_A1578D exm1741690 1 185984488 [A/G] NM_031935 HMCN1 EXON Missense_V1610I exm1741692 1 185985173 [C/G] NM_031935 HMCN1 EXON Missense_A1665P exm131374 1 185985176 [T/G] NM_031935 HMCN1 EXON Missense_A1666S exm131384 1 185985317 [A/G] NM_031935 HMCN1 EXON Missense_V1713M exm131393 1 185987370 [A/G] NM_031935 HMCN1 EXON Missense_N1786D exm131394 1 185988684 [A/G] NM_031935 HMCN1 EXON Missense_I1828V exm131398 1 185992187 [T/A] NM_031935 HMCN1 EXON Missense_Q1884L exm131407 1 186007990 [T/C] NM_031935 HMCN1 EXON Missense_L1961F exm131409 1 186007997 [T/G] NM_031935 HMCN1 EXON Missense_G1963V exm1741717 1 186008031 [G/C] NM_031935 HMCN1 EXON Missense_Q1974H exm131410 1 186008032 [A/G] NM_031935 HMCN1 EXON Missense_I1975V exm131422 1 186010203 [C/G] NM_031935 HMCN1 EXON Missense_R2080T exm131424 1 186010251 [T/A] NM_031935 HMCN1 EXON Missense_I2096N exm131430 1 186014876 [A/G] NM_031935 HMCN1 EXON Missense_V2121M exm131435 1 186017905 [T/C] NM_031935 HMCN1 EXON Missense_R2171C exm131451 1 186024570 [T/C] NM_031935 HMCN1 EXON Missense_I2303T exm1741742 1 186024579 [A/G] NM_031935 HMCN1 EXON Missense_R2306Q exm131458 1 186024643 [A/G] NM_031935 HMCN1 EXON Missense_M2327I exm131461 1 186024710 [A/C] NM_031935 HMCN1 EXON Missense_L2350M exm131462 1 186026366 [T/C] NM_031935 HMCN1 EXON Missense_A2382V exm131467 1 186026474 [T/C] NM_031935 HMCN1 EXON Missense_I2418T exm131470 1 186031015 [A/G] NM_031935,NR_031642 HMCN1,MIR548F1 EXON Missense_M2449V,Silent exm131486 1 186031730 [A/C] NM_031935,NR_031642 HMCN1,MIR548F1 EXON Missense_T2504K,Silent exm131488 1 186034371 [T/G] NM_031935,NR_031642 HMCN1,MIR548F1 EXON Synonymous_G2505G,Silent exm131493 1 186034508 [T/C] NM_031935,NR_031642 HMCN1,MIR548F1 EXON Missense_L2551S,Silent exm131494 1 186034533 [C/G] NM_031935,NR_031642 HMCN1,MIR548F1 EXON Missense_K2559N,Silent exm131495 1 186036974 [A/G] NM_031935,NR_031642 HMCN1,MIR548F1 EXON Missense_T2572A,Silent exm2232044 1 186038861 [T/C] NM_031935,NR_031642 HMCN1,MIR548F1 EXON Missense_T2649M,Silent exm2273729 1 186038870 [T/C] NM_031935,NR_031642 HMCN1,MIR548F1 EXON Missense_A2652V,Silent exm131530 1 186047262 [T/C] NM_031935,NR_031642 HMCN1,MIR548F1 EXON Missense_R2837W,Silent exm131535 1 186050417 [A/G] NM_031935,NR_031642 HMCN1,MIR548F1 EXON Missense_E2893G,Silent exm131537 1 186050503 [A/C] NM_031935,NR_031642 HMCN1,MIR548F1 EXON Missense_L2922I,Silent exm131538 1 186050515 [T/C] NM_031935,NR_031642 HMCN1,MIR548F1 EXON Nonsense_R2926X,Silent exm131540 1 186051998 [T/C] NM_031935,NR_031642 HMCN1,MIR548F1 EXON Missense_I2930T,Silent exm131542 1 186052030 [T/G] NM_031935,NR_031642 HMCN1,MIR548F1 EXON Missense_Y2941D,Silent exm131549 1 186055432 [A/C] NM_031935,NR_031642 HMCN1,MIR548F1 EXON Missense_N2980T,Silent exm131566 1 186057092 [A/G] NM_031935,NR_031642 HMCN1,MIR548F1 EXON Missense_R3131K,Silent exm131567 1 186057097 [A/G] NM_031935,NR_031642 HMCN1,MIR548F1 EXON Missense_I3133V,Silent exm131573 1 186057353 [A/T] NM_031935,NR_031642 HMCN1,MIR548F1 EXON Missense_D3174E,Silent exm131579 1 186057762 [A/G] NM_031935,NR_031642 HMCN1,MIR548F1 EXON Missense_R3201H,Silent exm131582 1 186057846 [T/C] NM_031935,NR_031642 HMCN1,MIR548F1 EXON Missense_M3229T,Silent exm131584 1 186057881 [A/G] NM_031935,NR_031642 HMCN1,MIR548F1 EXON Missense_I3241V,Silent exm131588 1 186059966 [A/C] NM_031935,NR_031642 HMCN1,MIR548F1 EXON Nonsense_C3268X,Silent exm131590 1 186059970 [C/G] NM_031935,NR_031642 HMCN1,MIR548F1 EXON Missense_A3270P,Silent exm131598 1 186062307 [T/C] NM_031935,NR_031642 HMCN1,MIR548F1 EXON Missense_L3310P,Silent exm131601 1 186062669 [T/C] NM_031935,NR_031642 HMCN1,MIR548F1 EXON Missense_L3355S,Silent exm131602 1 186062678 [A/C] NM_031935,NR_031642 HMCN1,MIR548F1 EXON Missense_T3358N,Silent exm2232047 1 186064438 [A/C] NM_031935,NR_031642 HMCN1,MIR548F1 EXON Missense_T3453N,Silent exm131615 1 186064460 [T/G] NM_031935,NR_031642 HMCN1,MIR548F1 EXON Missense_D3460E,Silent exm131621 1 186064554 [A/C] NM_031935,NR_031642 HMCN1,MIR548F1 EXON Missense_Q3492K,Silent exm131623 1 186064612 [A/G] NM_031935,NR_031642 HMCN1,MIR548F1 EXON Missense_E3511G,Silent exm131631 1 186072691 [T/G] NM_031935,NR_031642 HMCN1,MIR548F1 EXON Missense_G3554V,Silent exm131633 1 186072727 [A/G] NM_031935,NR_031642 HMCN1,MIR548F1 EXON Missense_G3566D,Silent exm131642 1 186077643 [T/C] NM_031935,NR_031642 HMCN1,MIR548F1 EXON Missense_R3635W,Silent exm131648 1 186077722 [G/C] NM_031935,NR_031642 HMCN1,MIR548F1 EXON Missense_R3661P,Silent exm131655 1 186081996 [A/G] NM_031935,NR_031642 HMCN1,MIR548F1 EXON Missense_N3681S,Silent exm131656 1 186082008 [G/C] NM_031935,NR_031642 HMCN1,MIR548F1 EXON Missense_G3685A,Silent exm131658 1 186083113 [T/C] NM_031935,NR_031642 HMCN1,MIR548F1 EXON Missense_P3712S,Silent exm131661 1 186083185 [A/G] NM_031935,NR_031642 HMCN1,MIR548F1 EXON Missense_A3736T,Silent exm131662 1 186083210 [T/A] NM_031935,NR_031642 HMCN1,MIR548F1 EXON Missense_I3744K,Silent exm131667 1 186084007 [T/C] NM_031935,NR_031642 HMCN1,MIR548F1 EXON Missense_T3778I,Silent exm131670 1 186084051 [T/C] NM_031935,NR_031642 HMCN1,MIR548F1 EXON Missense_R3793C,Silent exm131674 1 186084408 [T/C] NM_031935,NR_031642 HMCN1,MIR548F1 EXON Missense_P3808L,Silent exm2250374 1 186086204 [T/C] NM_031935,NR_031642 HMCN1,MIR548F1 EXON Synonymous_N3880N,Silent exm131684 1 186086229 [A/G] NM_031935,NR_031642 HMCN1,MIR548F1 EXON Missense_V3889M,Silent exm131688 1 186086629 [G/C] NM_031935,NR_031642 HMCN1,MIR548F1 EXON Missense_V3908L,Silent exm131690 1 186086710 [A/G] NM_031935,NR_031642 HMCN1,MIR548F1 EXON Missense_I3935V,Silent exm131700 1 186088379 [A/G] NM_031935,NR_031642 HMCN1,MIR548F1 EXON Missense_A3969T,Silent exm131701 1 186088412 [A/G] NM_031935,NR_031642 HMCN1,MIR548F1 EXON Missense_V3980M,Silent exm131703 1 186088994 [A/G] NM_031935,NR_031642 HMCN1,MIR548F1 EXON Missense_G4025D,Silent exm131704 1 186089000 [A/G] NM_031935,NR_031642 HMCN1,MIR548F1 EXON Missense_N4027S,Silent exm131714 1 186092103 [T/C] NM_031935,NR_031642 HMCN1,MIR548F1 EXON Missense_H4084Y,Silent exm131724 1 186094772 [T/C] NM_031935,NR_031642 HMCN1,MIR548F1 EXON Missense_T4179M,Silent exm131727 1 186094807 [A/G] NM_031935,NR_031642 HMCN1,MIR548F1 EXON Missense_V4191I,Silent exm131731 1 186094885 [A/G] NM_031935,NR_031642 HMCN1,MIR548F1 EXON Missense_T4217A,Silent exm131737 1 186097265 [T/C] NM_031935,NR_031642 HMCN1,MIR548F1 EXON Missense_T4249I,Silent exm2250375 1 186097908 [A/G] NM_031935,NR_031642 HMCN1,MIR548F1 Silent,Silent exm131743 1 186099099 [T/C] NM_031935,NR_031642 HMCN1,MIR548F1 EXON Synonymous_A4302A,Silent exm131745 1 186099134 [T/C] NM_031935,NR_031642 HMCN1,MIR548F1 EXON Missense_V4314A,Silent exm131746 1 186099158 [T/A] NM_031935,NR_031642 HMCN1,MIR548F1 EXON Missense_D4322V,Silent exm131754 1 186099654 [A/G] NM_031935,NR_031642 HMCN1,MIR548F1 EXON Missense_K4352R,Silent exm131767 1 186101539 [A/G] NM_031935,NR_031642 HMCN1,MIR548F1 EXON Missense_Q4437R,Silent exm131770 1 186105800 [A/G] NM_031935,NR_031642 HMCN1,MIR548F1 EXON Missense_S4438N,Silent exm131776 1 186105949 [A/G] NM_031935,NR_031642 HMCN1,MIR548F1 EXON Missense_V4488M,Silent exm131792 1 186107048 [A/G] NM_031935,NR_031642 HMCN1,MIR548F1 EXON Missense_R4623Q,Silent exm131797 1 186113330 [C/G] NM_031935,NR_031642 HMCN1,MIR548F1 EXON Missense_Q4650H,Silent exm131802 1 186113475 [A/G] NM_031935,NR_031642 HMCN1,MIR548F1 EXON Missense_I4699V,Silent exm131804 1 186113680 [T/C] NM_031935,NR_031642 HMCN1,MIR548F1 EXON Missense_A4704V,Silent exm131807 1 186113727 [A/G] NM_031935,NR_031642 HMCN1,MIR548F1 EXON Missense_A4720T,Silent exm131816 1 186114591 [A/G] NM_031935,NR_031642 HMCN1,MIR548F1 EXON Missense_G4775R,Silent exm131818 1 186114604 [A/G] NM_031935,NR_031642 HMCN1,MIR548F1 EXON Missense_R4779Q,Silent exm2273730 1 186114969 [A/G] NM_031935,NR_031642 HMCN1,MIR548F1 EXON Missense_C4841Y,Silent exm131828 1 186120449 [A/G] NM_031935,NR_031642 HMCN1,MIR548F1 EXON Missense_R4909H,Silent exm131829 1 186120461 [A/C] NM_031935,NR_031642 HMCN1,MIR548F1 EXON Missense_T4913N,Silent exm131845 1 186121996 [T/C] NM_031935,NR_031642 HMCN1,MIR548F1 EXON Missense_T5004I,Silent exm131848 1 186122972 [T/C] NM_031935,NR_031642 HMCN1,MIR548F1 EXON Missense_Y5037H,Silent exm131850 1 186123075 [T/G] NM_031935,NR_031642 HMCN1,MIR548F1 EXON Missense_I5071R,Silent exm131854 1 186134246 [T/A] NM_031935,NR_031642 HMCN1,MIR548F1 EXON Missense_D5087V,Silent exm131856 1 186135389 [T/C] NM_031935,NR_031642 HMCN1,MIR548F1 EXON Synonymous_S5131S,Silent exm2250376 1 186135389 [T/C] NM_031935,NR_031642 HMCN1,MIR548F1 EXON Synonymous_S5131S,Silent exm131857 1 186135415 [T/C] NM_031935,NR_031642 HMCN1,MIR548F1 EXON Missense_A5140V,Silent exm131863 1 186136015 [A/G] NM_031935,NR_031642 HMCN1,MIR548F1 EXON Missense_R5172H,Silent exm131872 1 186140507 [T/C] NM_031935,NR_031642 HMCN1,MIR548F1 EXON Missense_R5205C,Silent exm131873 1 186140508 [A/G] NM_031935,NR_031642 HMCN1,MIR548F1 EXON Missense_R5205H,Silent exm131876 1 186141181 [G/C] NM_031935,NR_031642 HMCN1,MIR548F1 EXON Missense_H5244Q,Silent exm131890 1 186147638 [A/G] NM_031935,NR_031642 HMCN1,MIR548F1 EXON Missense_Q5345R,Silent exm131897 1 186151323 [A/G] NM_031935,NR_031642 HMCN1,MIR548F1 EXON Missense_D5440N,Silent exm131899 1 186151390 [A/G] NM_031935,NR_031642 HMCN1,MIR548F1 EXON Missense_Q5462R,Silent exm131904 1 186157060 [A/G] NM_031935,NR_031642 HMCN1,MIR548F1 EXON Missense_R5487H,Silent exm131911 1 186158717 [A/G] NM_031935,NR_031642 HMCN1,MIR548F1 EXON Missense_V5539I,Silent exm131914 1 186158759 [T/C] NM_031935,NR_031642 HMCN1,MIR548F1 EXON Missense_R5553W,Silent exm131926 1 186158925 [A/G] NM_031935,NR_031642 HMCN1,MIR548F1 EXON Missense_R5608Q,Silent exm2250377 1 186257518 [T/G] NR_031642,NR_046941 MIR548F1,RNU6-72 Silent,Silent exm131936 1 186266014 [T/C] NR_031642,NR_046941,NM_001127709,NM_001127710,NM_005807,NM_001127708 MIR548F1,RNU6-72,PRG4,PRG4,PRG4,PRG4 EXON Silent,Silent,Missense_W3R,Missense_W3R,Missense_W3R,Missense_W3R exm131945 1 186269331 [A/G] NR_031642,NR_046941,NM_001127709,NM_001127710,NM_005807,NM_001127708 MIR548F1,RNU6-72,PRG4,PRG4,PRG4,PRG4 EXON Silent,Silent,Missense_R62K,Silent,Missense_R62K,Silent exm131946 1 186269343 [T/C] NR_031642,NR_046941,NM_001127709,NM_001127710,NM_005807,NM_001127708 MIR548F1,RNU6-72,PRG4,PRG4,PRG4,PRG4 EXON Silent,Silent,Missense_A66V,Silent,Missense_A66V,Silent exm131947 1 186269344 [A/G] NR_031642,NR_046941,NM_001127709,NM_001127710,NM_005807,NM_001127708 MIR548F1,RNU6-72,PRG4,PRG4,PRG4,PRG4 EXON Silent,Silent,Synonymous_A66A,Silent,Synonymous_A66A,Silent exm131964 1 186273994 [T/C] NR_031642,NR_046941,NM_001127709,NM_001127710,NM_005807,NM_001127708 MIR548F1,RNU6-72,PRG4,PRG4,PRG4,PRG4 EXON Silent,Silent,Silent,Silent,Missense_R180W,Missense_R139W exm131965 1 186273995 [A/G] NR_031642,NR_046941,NM_001127709,NM_001127710,NM_005807,NM_001127708 MIR548F1,RNU6-72,PRG4,PRG4,PRG4,PRG4 EXON Silent,Silent,Silent,Silent,Missense_R180Q,Missense_R139Q exm131973 1 186275510 [A/C] NR_031642,NR_046941,NM_001127709,NM_001127710,NM_005807,NM_001127708 MIR548F1,RNU6-72,PRG4,PRG4,PRG4,PRG4 EXON Silent,Silent,Missense_D127A,Missense_D86A,Missense_D220A,Missense_D179A exm131976 1 186275564 [T/C] NR_031642,NR_046941,NM_001127709,NM_001127710,NM_005807,NM_001127708 MIR548F1,RNU6-72,PRG4,PRG4,PRG4,PRG4 EXON Silent,Silent,Missense_T145M,Missense_T104M,Missense_T238M,Missense_T197M exm131983 1 186275744 [A/C] NR_031642,NR_046941,NM_001127709,NM_001127710,NM_005807,NM_001127708 MIR548F1,RNU6-72,PRG4,PRG4,PRG4,PRG4 EXON Silent,Silent,Missense_T205N,Missense_T164N,Missense_T298N,Missense_T257N exm131987 1 186275857 [A/G] NR_031642,NR_046941,NM_001127709,NM_001127710,NM_005807,NM_001127708 MIR548F1,RNU6-72,PRG4,PRG4,PRG4,PRG4 EXON Silent,Silent,Missense_E243K,Missense_E202K,Missense_E336K,Missense_E295K exm132080 1 186276895 [T/C] NR_031642,NR_046941,NM_001127709,NM_001127710,NM_005807,NM_001127708 MIR548F1,RNU6-72,PRG4,PRG4,PRG4,PRG4 EXON Silent,Silent,Missense_P589S,Missense_P548S,Missense_P682S,Missense_P641S exm132091 1 186277088 [G/C] NR_031642,NR_046941,NM_001127709,NM_001127710,NM_005807,NM_001127708 MIR548F1,RNU6-72,PRG4,PRG4,PRG4,PRG4 EXON Silent,Silent,Missense_C653S,Missense_C612S,Missense_C746S,Missense_C705S exm132092 1 186277099 [A/G] NR_031642,NR_046941,NM_001127709,NM_001127710,NM_005807,NM_001127708 MIR548F1,RNU6-72,PRG4,PRG4,PRG4,PRG4 EXON Silent,Silent,Missense_A657T,Missense_A616T,Missense_A750T,Missense_A709T exm132104 1 186277313 [T/C] NR_031642,NR_046941,NM_001127709,NM_001127710,NM_005807,NM_001127708 MIR548F1,RNU6-72,PRG4,PRG4,PRG4,PRG4 EXON Silent,Silent,Missense_T728I,Missense_T687I,Missense_T821I,Missense_T780I exm132114 1 186277568 [T/C] NR_031642,NR_046941,NM_001127709,NM_001127710,NM_005807,NM_001127708 MIR548F1,RNU6-72,PRG4,PRG4,PRG4,PRG4 EXON Silent,Silent,Missense_A813V,Missense_A772V,Missense_A906V,Missense_A865V exm132118 1 186277625 [A/G] NR_031642,NR_046941,NM_001127709,NM_001127710,NM_005807,NM_001127708 MIR548F1,RNU6-72,PRG4,PRG4,PRG4,PRG4 EXON Silent,Silent,Missense_R832H,Missense_R791H,Missense_R925H,Missense_R884H exm1742059 1 186277811 [T/C] NR_031642,NR_046941,NM_001127709,NM_001127710,NM_005807,NM_001127708 MIR548F1,RNU6-72,PRG4,PRG4,PRG4,PRG4 EXON Silent,Silent,Missense_T894I,Missense_T853I,Missense_T987I,Missense_T946I exm132130 1 186278008 [T/C] NR_031642,NR_046941,NM_001127709,NM_001127710,NM_005807,NM_001127708 MIR548F1,RNU6-72,PRG4,PRG4,PRG4,PRG4 EXON Silent,Silent,Missense_R960C,Missense_R919C,Missense_R1053C,Missense_R1012C exm132141 1 186278212 [A/G] NR_031642,NR_046941,NM_001127709,NM_001127710,NM_005807,NM_001127708 MIR548F1,RNU6-72,PRG4,PRG4,PRG4,PRG4 EXON Silent,Silent,Missense_D1028N,Missense_D987N,Missense_D1121N,Missense_D1080N exm132142 1 186278219 [A/C] NR_031642,NR_046941,NM_001127709,NM_001127710,NM_005807,NM_001127708 MIR548F1,RNU6-72,PRG4,PRG4,PRG4,PRG4 EXON Silent,Silent,Missense_D1030A,Missense_D989A,Missense_D1123A,Missense_D1082A exm132146 1 186278240 [A/G] NR_031642,NR_046941,NM_001127709,NM_001127710,NM_005807,NM_001127708 MIR548F1,RNU6-72,PRG4,PRG4,PRG4,PRG4 EXON Silent,Silent,Missense_N1037S,Missense_N996S,Missense_N1130S,Missense_N1089S exm132155 1 186280235 [A/G] NR_031642,NR_046941,NM_001127709,NM_001127710,NM_005807,NM_001127708 MIR548F1,RNU6-72,PRG4,PRG4,PRG4,PRG4 EXON Silent,Silent,Missense_G1097D,Missense_G1056D,Missense_G1190D,Missense_G1149D exm132160 1 186281328 [T/C] NR_031642,NM_001127709,NM_001127710,NM_005807,NM_001127708,NM_003292 MIR548F1,PRG4,PRG4,PRG4,PRG4,TPR EXON Silent,Missense_I1179T,Missense_I1138T,Missense_I1272T,Missense_I1231T,Silent exm132163 1 186281400 [T/C] NR_031642,NM_001127709,NM_001127710,NM_005807,NM_001127708,NM_003292 MIR548F1,PRG4,PRG4,PRG4,PRG4,TPR EXON Silent,Missense_T1203M,Missense_T1162M,Missense_T1296M,Missense_T1255M,Silent exm132164 1 186281429 [T/C] NR_031642,NM_001127709,NM_001127710,NM_005807,NM_001127708,NM_003292 MIR548F1,PRG4,PRG4,PRG4,PRG4,TPR EXON Silent,Missense_R1213C,Missense_R1172C,Missense_R1306C,Missense_R1265C,Silent exm132167 1 186281477 [T/C] NR_031642,NM_001127709,NM_001127710,NM_005807,NM_001127708,NM_003292 MIR548F1,PRG4,PRG4,PRG4,PRG4,TPR EXON Silent,Missense_P1229S,Missense_P1188S,Missense_P1322S,Missense_P1281S,Silent exm132178 1 186282840 [A/G] NR_031642,NM_001127709,NM_001127710,NM_005807,NM_001127708,NM_003292 MIR548F1,PRG4,PRG4,PRG4,PRG4,TPR EXON Silent,Missense_S1289N,Missense_S1248N,Missense_S1382N,Missense_S1341N,Silent exm132198 1 186289510 [A/G] NR_031642,NM_003292 MIR548F1,TPR EXON Silent,Missense_P2168S exm132249 1 186305720 [T/C] NR_031642,NM_003292 MIR548F1,TPR EXON Silent,Missense_Q1538R exm132258 1 186307204 [A/G] NR_031642,NM_003292 MIR548F1,TPR EXON Silent,Synonymous_Y1441Y exm2250379 1 186307204 [A/G] NR_031642,NM_003292 MIR548F1,TPR EXON Silent,Synonymous_Y1441Y exm132263 1 186308832 [T/A] NR_031642,NM_003292 MIR548F1,TPR EXON Silent,Missense_T1365S exm132287 1 186313108 [T/C] NR_031642,NM_003292 MIR548F1,TPR EXON Silent,Missense_V1178I exm132289 1 186313129 [T/C] NR_031642,NM_003292 MIR548F1,TPR EXON Silent,Missense_V1171I exm132291 1 186313197 [T/C] NR_031642,NM_003292 MIR548F1,TPR EXON Silent,Missense_R1148H exm132303 1 186314809 [A/G] NR_031642,NM_003292 MIR548F1,TPR EXON Silent,Missense_T1039I exm132305 1 186315315 [T/G] NR_031642,NM_003292 MIR548F1,TPR EXON Silent,Missense_Q1016H exm1742138 1 186316436 [A/G] NR_031642,NM_003292 MIR548F1,TPR EXON Silent,Synonymous_N977N exm132308 1 186316488 [T/C] NR_031642,NM_003292 MIR548F1,TPR EXON Silent,Missense_S960N exm132310 1 186316510 [T/C] NR_031642,NM_003292 MIR548F1,TPR EXON Silent,Missense_E953K exm132313 1 186316561 [T/C] NR_031642,NM_003292 MIR548F1,TPR EXON Silent,Missense_D936N exm132317 1 186319387 [A/G] NR_031642,NM_003292 MIR548F1,TPR EXON Silent,Missense_V915A exm132322 1 186320462 [A/G] NR_031642,NM_003292 MIR548F1,TPR EXON Silent,Synonymous_D870D exm132323 1 186320479 [A/G] NR_031642,NM_003292 MIR548F1,TPR EXON Silent,Missense_L865F exm132334 1 186321242 [T/C] NR_031642,NM_003292 MIR548F1,TPR EXON Silent,Missense_V779I exm132336 1 186322869 [A/G] NR_031642,NM_003292 MIR548F1,TPR EXON Silent,Missense_T762M exm132341 1 186324810 [A/G] NR_031642,NM_003292 MIR548F1,TPR EXON Silent,Missense_I660T exm132344 1 186324861 [T/C] NR_031642,NM_003292 MIR548F1,TPR EXON Silent,Missense_K643R exm132347 1 186324888 [T/C] NR_031642,NM_003292 MIR548F1,TPR EXON Silent,Missense_D634G exm132364 1 186328954 [T/C] NR_031642,NM_003292 MIR548F1,TPR EXON Silent,Missense_V456I exm132372 1 186329959 [A/G] NR_031642,NM_003292 MIR548F1,TPR EXON Silent,Missense_I346T exm132375 1 186330768 [T/C] NR_031642,NM_003292 MIR548F1,TPR EXON Silent,Missense_K315R exm1742168 1 186330810 [T/C] NR_031642,NM_003292 MIR548F1,TPR EXON Silent,Missense_N301S exm132386 1 186332066 [T/G] NR_031642,NM_003292 MIR548F1,TPR EXON Silent,Missense_E200A exm132391 1 186337028 [A/T] NR_031642,NM_003292 MIR548F1,TPR EXON Silent,Missense_E139D exm132394 1 186340119 [A/G] NR_031642,NM_003292 MIR548F1,TPR EXON Silent,Missense_R105C exm2232075 1 186342527 [T/C] NR_031642,NM_003292 MIR548F1,TPR EXON Silent,Missense_E74K exm1742184 1 186344126 [A/G] NR_031642,NM_003292 MIR548F1,TPR EXON Silent,Missense_T12M exm132413 1 186352203 [A/G] NR_031642,NM_017847,NM_001164245,NM_001164246 MIR548F1,C1orf27,C1orf27,C1orf27 EXON Silent,Missense_K50R,Missense_K50R,Missense_K50R exm132416 1 186355168 [A/G] NR_031642,NM_017847,NM_001164245,NM_001164246 MIR548F1,C1orf27,C1orf27,C1orf27 EXON Silent,Missense_I95V,Missense_I95V,Silent exm132421 1 186359924 [A/G] NR_031642,NM_017847,NM_001164245,NM_001164246 MIR548F1,C1orf27,C1orf27,C1orf27 EXON Silent,Missense_N186D,Missense_N186D,Missense_N154D exm132431 1 186363119 [G/C] NR_031642,NM_017847,NM_001164245,NM_001164246 MIR548F1,C1orf27,C1orf27,C1orf27 EXON Silent,Missense_S251C,Silent,Missense_S219C exm132443 1 186368092 [A/C] NR_031642,NM_017847,NM_001164245,NM_001164246 MIR548F1,C1orf27,C1orf27,C1orf27 EXON Silent,Missense_K306Q,Missense_K283Q,Missense_K274Q exm132448 1 186370281 [C/G] NR_031642,NM_017847,NM_001164245,NM_001164246,NM_022375 MIR548F1,C1orf27,C1orf27,C1orf27,OCLM EXON Silent,Silent,Silent,Silent,Missense_S35C exm132450 1 186375235 [A/G] NR_031642,NM_017847,NM_001164245,NM_001164246 MIR548F1,C1orf27,C1orf27,C1orf27 EXON Silent,Missense_V341I,Missense_V318I,Missense_V309I exm132455 1 186375305 [A/G] NR_031642,NM_017847,NM_001164245,NM_001164246 MIR548F1,C1orf27,C1orf27,C1orf27 EXON Silent,Missense_D364G,Missense_D341G,Missense_D332G exm132457 1 186375340 [A/G] NR_031642,NM_017847,NM_001164245,NM_001164246 MIR548F1,C1orf27,C1orf27,C1orf27 EXON Silent,Missense_E376K,Missense_E353K,Missense_E344K exm132491 1 186415571 [T/C] NR_031642,NM_022576,NM_002597 MIR548F1,PDC,PDC EXON Silent,Missense_R15Q,Missense_R67Q exm-rs10911902 1 186632317 [T/C] exm132497 1 186643541 [T/C] NM_000963 PTGS2 EXON Missense_G587R exm132505 1 186643768 [A/G] NM_000963 PTGS2 EXON Missense_V511A exm132507 1 186643853 [T/C] NM_000963 PTGS2 EXON Missense_D483N exm132522 1 186645304 [T/C] NM_000963 PTGS2 EXON Missense_K328R exm132531 1 186645828 [T/C] NM_000963 PTGS2 EXON Missense_M247I exm2232078 1 186646005 [T/C] NM_000963 PTGS2 EXON Missense_R228H exm2232079 1 186646887 [T/C] NM_000963 PTGS2 EXON Missense_Q178R exm-rs4140564 1 186725003 [A/G] exm132573 1 186863287 [A/T] NM_024420 PLA2G4A EXON Missense_T108S exm132574 1 186863320 [A/G] NM_024420 PLA2G4A EXON Missense_E119K exm132609 1 186925334 [C/G] NM_024420 PLA2G4A EXON Missense_F479L exm1742331 1 186925434 [A/C] NM_024420 PLA2G4A EXON Missense_Q513K exm132614 1 186934559 [A/G] NM_024420 PLA2G4A EXON Missense_R533Q exm2259894 1 186946386 [T/G] NM_024420 PLA2G4A Silent exm132621 1 186946869 [A/G] NM_024420 PLA2G4A EXON Missense_I637V exm132622 1 186946912 [A/G] NM_024420 PLA2G4A EXON Missense_R651K exm132623 1 186948448 [T/G] NM_024420 PLA2G4A EXON Synonymous_G654G exm2268797 1 186985141 [T/C] exm2265065 1 187278646 [A/G] exm2268798 1 187483206 [T/C] exm-rs3120970 1 187675285 [A/G] exm2264933 1 188071966 [A/G] exm2268959 1 188275062 [T/C] exm2268799 1 188755011 [T/C] exm2268960 1 188835473 [T/G] exm2268800 1 189022599 [T/G] exm2264934 1 189552579 [A/G] exm2265066 1 189574444 [A/G] exm-rs532905 1 189620278 [T/C] exm-rs10737562 1 189723623 [A/G] exm2264935 1 189924896 [A/G] exm-rs1935881 1 190066386 [T/C] exm132653 1 190067458 [T/C] NM_199051 FAM5C EXON Missense_N664S exm2265067 1 190088325 [A/G] NM_199051 FAM5C Silent exm132685 1 190129925 [A/G] NM_199051 FAM5C EXON Missense_R353C exm132690 1 190195413 [A/G] NM_199051 FAM5C EXON Missense_R254C exm132696 1 190234086 [A/G] NM_199051 FAM5C EXON Missense_T176M exm132702 1 190250788 [T/C] NM_199051 FAM5C EXON Missense_N110S exm132716 1 190424003 [T/G] NM_199051 FAM5C EXON Missense_R6S exm2264936 1 190551418 [A/G] exm2264937 1 190764733 [A/G] NR_033922 LOC440704 Silent exm-rs2053302 1 190841673 [T/C] exm2265068 1 190860691 [A/G] exm2250411 1 191391663 [T/C] exm-rs10801047 1 191559356 [T/A] exm2268802 1 191590362 [T/C] exm2268961 1 192088044 [T/C] exm132733 1 192128363 [A/G] NM_130782 RGS18 EXON Missense_R45G exm132736 1 192128423 [A/G] NM_130782 RGS18 EXON Missense_R65G exm1743147 1 192128438 [A/G] NM_130782 RGS18 EXON Missense_A70T exm132737 1 192129537 [A/G] NM_130782 RGS18 EXON Missense_G84D exm132757 1 192316469 [T/C] NM_001039152 RGS21 EXON Missense_A13V exm132760 1 192316514 [A/G] NM_001039152 RGS21 EXON Missense_N28S exm132762 1 192321189 [T/C] NM_001039152 RGS21 EXON Missense_A34V exm132764 1 192321236 [T/C] NM_001039152 RGS21 EXON Missense_F50L exm132767 1 192321266 [A/G] NM_001039152 RGS21 EXON Missense_T60A exm132774 1 192335180 [A/G] NM_001039152 RGS21 EXON Missense_K129E exm2250417 1 192430085 [A/C] exm-rs2816316 1 192536813 [A/C] exm132781 1 192544929 [A/G] NM_002922 RGS1 EXON Missense_A3T exm1743215 1 192545450 [A/T] NM_002922 RGS1 EXON Missense_I58N exm132797 1 192547410 [G/C] NM_002922 RGS1 EXON Missense_E113D exm2259909 1 192547710 [A/G] NM_002922 RGS1 Silent exm132805 1 192548289 [A/G] NM_002922 RGS1 EXON Missense_R156Q exm132812 1 192548439 [A/G] NM_002922 RGS1 EXON Missense_N206S exm1743259 1 192617063 [T/C] NM_144766,NM_002927 RGS13,RGS13 EXON Synonymous_L25L,Synonymous_L25L exm132826 1 192627337 [T/C] NM_144766,NM_002927 RGS13,RGS13 EXON Missense_P45L,Missense_P45L exm2250419 1 192627431 [A/G] NM_144766,NM_002927 RGS13,RGS13 EXON Synonymous_R76R,Synonymous_R76R exm132839 1 192628623 [C/G] NM_144766,NM_002927 RGS13,RGS13 EXON Missense_L150F,Missense_L150F exm132845 1 192778206 [A/G] NM_002923 RGS2 EXON Missense_Q2R exm132846 1 192778208 [A/G] NM_002923 RGS2 EXON Missense_S3G exm132849 1 192778214 [A/G] NM_002923 RGS2 EXON Missense_M5V exm132854 1 192778255 [C/G] NM_002923 RGS2 EXON Missense_K18N exm132855 1 192778269 [A/G] NM_002923 RGS2 EXON Missense_G23D exm132857 1 192779303 [T/G] NM_002923 RGS2 EXON Missense_D40Y exm132859 1 192779333 [A/C] NM_002923 RGS2 EXON Missense_Q50K exm132860 1 192779349 [T/C] NM_002923 RGS2 EXON Missense_P55L exm132867 1 192780164 [A/G] NM_002923 RGS2 EXON Missense_I110V exm132878 1 192985507 [T/C] NM_001199261,NM_015984 UCHL5,UCHL5 EXON Missense_A321T,Missense_A322T exm-rs9427573 1 192995213 [T/C] NM_001199261,NM_015984,NM_001199262,NM_001199263,NR_037607 UCHL5,UCHL5,UCHL5,UCHL5,UCHL5 Silent,Silent,Silent,Silent,Silent exm132886 1 192997237 [T/C] NM_001199261,NM_015984,NM_001199262,NM_001199263,NR_037607 UCHL5,UCHL5,UCHL5,UCHL5,UCHL5 EXON Missense_V203I,Missense_V203I,Missense_V203I,Missense_V203I,Silent exm132892 1 192998369 [G/C] NM_001199261,NM_015984,NM_001199262,NM_001199263,NR_037607 UCHL5,UCHL5,UCHL5,UCHL5,UCHL5 EXON Missense_V169L,Missense_V169L,Missense_V169L,Missense_V169L,Silent exm132932 1 193038254 [A/G] NM_001173524,NR_033393,NM_001173525,NM_001042369,NM_004600,NM_001042370 TROVE2,TROVE2,TROVE2,TROVE2,TROVE2,TROVE2 EXON Missense_V24I,Silent,Missense_V24I,Missense_V24I,Missense_V24I,Missense_V24I exm132938 1 193038360 [A/G] NM_001173524,NR_033393,NM_001173525,NM_001042369,NM_004600,NM_001042370 TROVE2,TROVE2,TROVE2,TROVE2,TROVE2,TROVE2 EXON Missense_E59G,Silent,Missense_E59G,Missense_E59G,Missense_E59G,Missense_E59G exm132942 1 193038494 [A/G] NM_001173524,NR_033393,NM_001173525,NM_001042369,NM_004600,NM_001042370 TROVE2,TROVE2,TROVE2,TROVE2,TROVE2,TROVE2 EXON Missense_D104N,Silent,Missense_D104N,Missense_D104N,Missense_D104N,Missense_D104N exm132950 1 193044958 [A/G] NM_001173524,NR_033393,NM_001173525,NM_001042369,NM_004600,NM_001042370 TROVE2,TROVE2,TROVE2,TROVE2,TROVE2,TROVE2 EXON Missense_I197V,Silent,Missense_I197V,Missense_I197V,Missense_I197V,Missense_I197V exm132959 1 193045734 [A/C] NM_001173524,NR_033393,NM_001173525,NM_001042369,NM_004600,NM_001042370 TROVE2,TROVE2,TROVE2,TROVE2,TROVE2,TROVE2 EXON Missense_S302Y,Silent,Missense_S302Y,Missense_S302Y,Missense_S302Y,Missense_S302Y exm132964 1 193046073 [A/G] NM_001173524,NR_033393,NM_001173525,NM_001042369,NM_004600,NM_001042370 TROVE2,TROVE2,TROVE2,TROVE2,TROVE2,TROVE2 EXON Missense_A327T,Silent,Missense_A327T,Missense_A327T,Missense_A327T,Missense_A327T exm132980 1 193053716 [A/G] NM_001173524,NR_033393,NM_001173525,NM_001042369,NM_004600,NM_001042370 TROVE2,TROVE2,TROVE2,TROVE2,TROVE2,TROVE2 EXON Missense_D491G,Silent,Missense_D491G,Missense_D491G,Missense_D491G,Missense_D491G exm132996 1 193065799 [A/G] NM_016066,NM_197962,NM_001243399 GLRX2,GLRX2,GLRX2 EXON Missense_H152Y,Missense_H151Y,Missense_H111Y exm1743381 1 193070320 [A/G] NM_016066,NM_197962,NM_001243399 GLRX2,GLRX2,GLRX2 EXON Missense_T46I,Missense_T45I,Missense_T5I exm133014 1 193074511 [A/G] NM_016066,NM_197962,NM_001243399 GLRX2,GLRX2,GLRX2 EXON Silent,Missense_M1T,Silent exm133020 1 193074717 [A/G] NM_016066,NM_001243399 GLRX2,GLRX2 EXON Missense_Y18H,Silent exm133023 1 193074759 [G/C] NM_016066,NM_001243399 GLRX2,GLRX2 EXON Missense_R4G,Silent exm2250421 1 193104827 [A/G] NM_024529 CDC73 Silent exm133074 1 193149972 [A/G] NM_024529,NM_003783 CDC73,B3GALT2 EXON Silent,Missense_Y241H exm133083 1 193150326 [A/C] NM_024529,NM_003783 CDC73,B3GALT2 EXON Silent,Missense_Y123D exm2232104 1 193150535 [A/G] NM_024529,NM_003783 CDC73,B3GALT2 EXON Silent,Missense_A53V exm133093 1 193150646 [T/C] NM_024529,NM_003783 CDC73,B3GALT2 EXON Silent,Nonsense_W16X exm133103 1 193181196 [T/G] NM_024529 CDC73 EXON Synonymous_V344V exm2268803 1 193521335 [T/C] exm2268962 1 193792484 [T/C] exm-rs606149 1 193921548 [T/C] exm2264939 1 194066989 [A/G] exm2268804 1 194736589 [T/G] exm2264940 1 195053488 [A/G] exm2268964 1 195280424 [T/C] exm-rs1890645 1 195531423 [T/C] exm2268805 1 195738953 [T/G] exm-rs7517337 1 195914273 [A/G] exm2264941 1 195916112 [A/G] exm2263866 1 195923203 [A/C] exm-rs7512769 1 196042662 [A/T] exm133238 1 196227521 [A/G] NM_198503 KCNT2 EXON Missense_S1005L exm133267 1 196295914 [G/C] NM_198503 KCNT2 EXON Missense_V737L exm133272 1 196303055 [A/G] NM_198503 KCNT2 EXON Missense_S640L exm133284 1 196309693 [T/C] NM_198503 KCNT2 EXON Missense_V521I exm133285 1 196309700 [T/C] NM_198503 KCNT2 EXON Synonymous_K518K exm133290 1 196311284 [A/G] NM_198503 KCNT2 EXON Missense_V493A exm2250445 1 196448324 [A/G] NM_198503 KCNT2 EXON Synonymous_G123G exm133321 1 196448324 [A/G] NM_198503 KCNT2 EXON Synonymous_G123G exm2263867 1 196557329 [A/C] NM_198503 KCNT2 Silent exm133337 1 196621252 [C/G] NM_001014975,NM_000186 CFH,CFH EXON Missense_R2T,Missense_R2T exm133341 1 196642221 [T/G] NM_001014975,NM_000186 CFH,CFH EXON Missense_S58A,Missense_S58A exm133342 1 196642233 [A/G] NM_001014975,NM_000186 CFH,CFH EXON Missense_V62I,Missense_V62I exm-rs1329424 1 196646176 [T/G] NM_001014975,NM_000186 CFH,CFH Silent,Silent exm133360 1 196646650 [A/G] NM_001014975,NM_000186 CFH,CFH EXON Missense_V158I,Missense_V158I exm133371 1 196646779 [A/G] NM_001014975,NM_000186 CFH,CFH EXON Missense_E201K,Missense_E201K exm133377 1 196648903 [A/G] NM_001014975,NM_000186 CFH,CFH EXON Missense_R257H,Missense_R257H exm133394 1 196659231 [A/C] NM_001014975,NM_000186 CFH,CFH EXON Missense_Q400K,Missense_Q400K exm-rs1061170 1 196659237 [T/C] NM_001014975,NM_000186 CFH,CFH EXON Missense_H402Y,Missense_H402Y exm133400 1 196670459 [T/C] NM_001014975,NM_000186 CFH,CFH EXON Missense_X450R,Silent exm-rs10737680 1 196679455 [A/C] NM_000186 CFH Silent exm133411 1 196684751 [A/T] NM_000186 CFH EXON Missense_N516K exm133415 1 196684855 [T/C] NM_000186 CFH EXON Missense_I551T exm-rs6677604 1 196686918 [A/G] NM_000186 CFH Silent exm1744750 1 196694290 [T/C] NM_000186 CFH EXON Missense_V579A exm133424 1 196694379 [A/G] NM_000186 CFH EXON Missense_V609I exm133426 1 196694427 [T/G] NM_000186 CFH EXON Nonsense_E625X exm133428 1 196695675 [T/G] NM_000186 CFH EXON Missense_G650V exm133432 1 196695911 [A/G] NM_000186 CFH EXON Missense_D693N exm133437 1 196696005 [A/C] NM_000186 CFH EXON Missense_T724K exm133438 1 196696029 [T/C] NM_000186 CFH EXON Missense_T732M exm-rs1410996 1 196696933 [A/G] NM_000186 CFH Silent exm-rs380390 1 196701051 [C/G] NM_000186 CFH Silent exm-rs1329428 1 196702810 [T/C] NM_000186 CFH Silent exm133451 1 196706028 [T/C] NM_000186 CFH EXON Missense_R830W exm2232137 1 196706049 [A/G] NM_000186 CFH EXON Missense_V837I exm133458 1 196706659 [A/C] NM_000186 CFH EXON Missense_S884Y exm133460 1 196706677 [T/G] NM_000186 CFH EXON Missense_S890I exm133461 1 196706683 [T/C] NM_000186 CFH EXON Missense_A892V exm133467 1 196709774 [T/G] NM_000186 CFH EXON Missense_E936D exm133469 1 196709816 [T/G] NM_000186 CFH EXON Missense_Q950H exm133470 1 196709833 [T/C] NM_000186 CFH EXON Missense_T956M exm133478 1 196711052 [C/G] NM_000186 CFH EXON Missense_G1002R exm133479 1 196711067 [T/G] NM_000186 CFH EXON Missense_V1007L exm133483 1 196711098 [T/C] NM_000186 CFH EXON Missense_T1017I exm2232140 1 196712594 [T/C] NM_000186 CFH EXON Missense_V1049A exm133490 1 196712596 [T/A] NM_000186 CFH EXON Missense_N1050Y exm133495 1 196712624 [T/C] NM_000186 CFH EXON Missense_I1059T exm2277016 1 196712659 [T/G] NM_000186 CFH EXON Nonsense_E1071X exm2232142 1 196762599 [T/G] NM_001166624,NM_021023 CFHR3,CFHR3 EXON Missense_A256S,Missense_A317S exm133619 1 196801025 [A/G] NM_002113 CFHR1 EXON Missense_E297K exm-rs6428370 1 196844593 [A/G] exm133633 1 196871551 [T/C] NM_006684,NM_001201551,NM_001201550 CFHR4,CFHR4,CFHR4 EXON Missense_V21A,Missense_V20A,Missense_V21A exm133636 1 196871592 [T/C] NM_006684,NM_001201551,NM_001201550 CFHR4,CFHR4,CFHR4 EXON Missense_Y35H,Missense_Y34H,Missense_Y35H exm133637 1 196871607 [T/C] NM_006684,NM_001201551,NM_001201550 CFHR4,CFHR4,CFHR4 EXON Missense_R40C,Missense_R39C,Missense_R40C exm133638 1 196871608 [A/G] NM_006684,NM_001201551,NM_001201550 CFHR4,CFHR4,CFHR4 EXON Missense_R40H,Missense_R39H,Missense_R40H exm133639 1 196871610 [A/T] NM_006684,NM_001201551,NM_001201550 CFHR4,CFHR4,CFHR4 EXON Nonsense_R41X,Nonsense_R40X,Nonsense_R41X exm133644 1 196871674 [T/C] NM_006684,NM_001201551,NM_001201550 CFHR4,CFHR4,CFHR4 EXON Missense_T62I,Missense_T61I,Missense_T62I exm133646 1 196871693 [A/G] NM_006684,NM_001201551,NM_001201550 CFHR4,CFHR4,CFHR4 EXON Nonsense_W68X,Nonsense_W67X,Nonsense_W68X exm133651 1 196876458 [A/G] NM_006684,NM_001201551,NM_001201550 CFHR4,CFHR4,CFHR4 EXON Silent,Missense_N209S,Missense_N210S exm133666 1 196882038 [T/A] NM_006684,NM_001201551,NM_001201550 CFHR4,CFHR4,CFHR4 EXON Missense_Q142L,Missense_Q388L,Missense_Q389L exm133690 1 196887411 [T/C] NM_006684,NM_001201551,NM_001201550 CFHR4,CFHR4,CFHR4 EXON Missense_Y291H,Missense_Y537H,Missense_Y538H exm133697 1 196887480 [A/C] NM_006684,NM_001201551,NM_001201550 CFHR4,CFHR4,CFHR4 EXON Missense_L314I,Missense_L560I,Missense_L561I exm133701 1 196918605 [A/G] NM_005666 CFHR2 EXON Missense_K27E exm133702 1 196918615 [A/G] NM_005666 CFHR2 EXON Missense_H30R exm133713 1 196919982 [T/G] NM_005666 CFHR2 EXON Missense_R85I exm1744848 1 196919987 [T/G] NM_005666 CFHR2 EXON Missense_C87G exm133715 1 196920123 [A/G] NM_005666 CFHR2 EXON Missense_R132Q exm133727 1 196927185 [T/G] NM_005666 CFHR2 EXON Nonsense_E199X exm133734 1 196928188 [A/G] NM_005666 CFHR2 EXON Missense_Y264C exm133745 1 196952046 [A/T] NM_030787 CFHR5 EXON Missense_H30Q exm133766 1 196953264 [A/C] NM_030787 CFHR5 EXON Missense_T143P exm133768 1 196963210 [A/G] NM_030787 CFHR5 EXON Missense_K144R exm133769 1 196963211 [A/T] NM_030787 CFHR5 EXON Missense_K144N exm133770 1 196963213 [A/G] NM_030787 CFHR5 EXON Missense_G145E exm2232149 1 196963254 [C/G] NM_030787 CFHR5 EXON Missense_Q159E exm1744861 1 196963287 [A/G] NM_030787 CFHR5 EXON Missense_V170M exm1744862 1 196963312 [A/G] NM_030787 CFHR5 EXON Missense_N178S exm133777 1 196963355 [T/G] NM_030787 CFHR5 EXON Missense_F192L exm133780 1 196964861 [T/C] NM_030787 CFHR5 EXON Missense_C208R exm133790 1 196965193 [A/G] NM_030787 CFHR5 EXON Missense_G278S exm133791 1 196965196 [T/A] NM_030787 CFHR5 EXON Missense_Y279N exm133798 1 196967318 [T/G] NM_030787 CFHR5 EXON Missense_L344R exm133801 1 196967354 [A/G] NM_030787 CFHR5 EXON Missense_R356H exm133814 1 196973789 [A/G] NM_030787 CFHR5 Silent exm1744874 1 196973817 [T/C] NM_030787 CFHR5 EXON Missense_P453S exm133821 1 196973872 [A/G] NM_030787 CFHR5 EXON Missense_G471E exm133827 1 196977644 [T/G] NM_030787 CFHR5 EXON Missense_M514R exm133828 1 196977664 [T/A] NM_030787 CFHR5 EXON Missense_L521I exm133830 1 196977689 [T/G] NM_030787 CFHR5 EXON Missense_L529R exm133833 1 196977748 [T/A] NM_030787 CFHR5 EXON Missense_I549L exm133835 1 196977767 [G/C] NM_030787 CFHR5 EXON Missense_R555P exm133842 1 197009688 [T/C] NM_001994 F13B EXON Missense_G639E exm133843 1 197009702 [T/C] NM_001994 F13B EXON Missense_M634I exm133850 1 197019858 [A/C] NM_001994 F13B EXON Missense_D569E exm133860 1 197021940 [T/C] NM_001994 F13B EXON Missense_Y460C exm133865 1 197024914 [A/G] NM_001994 F13B EXON Missense_Y429H exm133867 1 197024971 [T/C] NM_001994 F13B EXON Missense_G410R exm133871 1 197026151 [A/T] NM_001994 F13B EXON Missense_E388V exm133876 1 197026265 [T/C] NM_001994 F13B EXON Missense_H350R exm133877 1 197026289 [A/G] NM_001994 F13B EXON Missense_I342T exm133895 1 197029592 [T/C] NM_001994 F13B EXON Missense_V237I exm133911 1 197031021 [T/C] NM_001994 F13B EXON Missense_R115H exm2273731 1 197056003 [T/G] NM_001206846,NM_018136 ASPM,ASPM EXON Missense_Q1836K,Missense_Q3421K exm1744917 1 197057451 [T/C] NM_001206846,NM_018136 ASPM,ASPM EXON Missense_G1781R,Missense_G3366R exm133938 1 197059133 [T/C] NM_001206846,NM_018136 ASPM,ASPM EXON Missense_R1719Q,Missense_R3304Q exm133940 1 197059154 [T/G] NM_001206846,NM_018136 ASPM,ASPM EXON Missense_S1712Y,Missense_S3297Y exm1744920 1 197059211 [A/G] NM_001206846,NM_018136 ASPM,ASPM EXON Missense_V1693A,Missense_V3278A exm133945 1 197059382 [T/C] NM_001206846,NM_018136 ASPM,ASPM EXON Missense_H1673R,Missense_H3258R exm133947 1 197059479 [A/C] NM_001206846,NM_018136 ASPM,ASPM EXON Missense_C1641G,Missense_C3226G exm133966 1 197061042 [T/C] NM_001206846,NM_018136 ASPM,ASPM EXON Missense_I1562V,Missense_I3147V exm133968 1 197061086 [A/C] NM_001206846,NM_018136 ASPM,ASPM EXON Missense_L1547R,Missense_L3132R exm133978 1 197062222 [A/G] NM_001206846,NM_018136 ASPM,ASPM EXON Missense_I1500T,Missense_I3085T exm133982 1 197062298 [A/G] NM_001206846,NM_018136 ASPM,ASPM EXON Nonsense_Q1475X,Nonsense_Q3060X exm2250451 1 197063292 [T/C] NM_001206846,NM_018136 ASPM,ASPM EXON Synonymous_A1417A,Synonymous_A3002A exm133989 1 197063292 [T/C] NM_001206846,NM_018136 ASPM,ASPM EXON Synonymous_A1417A,Synonymous_A3002A exm133995 1 197065186 [T/C] NM_001206846,NM_018136 ASPM,ASPM EXON Missense_I1392V,Missense_I2977V exm134003 1 197069640 [A/G] NM_001206846,NM_018136 ASPM,ASPM EXON Silent,Missense_I2914T exm134006 1 197069766 [A/G] NM_001206846,NM_018136 ASPM,ASPM EXON Silent,Missense_T2872M exm134011 1 197069857 [A/G] NM_001206846,NM_018136 ASPM,ASPM EXON Silent,Missense_R2842W exm1744949 1 197069929 [A/C] NM_001206846,NM_018136 ASPM,ASPM EXON Silent,Missense_A2818S exm134018 1 197070126 [A/C] NM_001206846,NM_018136 ASPM,ASPM EXON Silent,Missense_M2752R exm1744951 1 197070153 [T/C] NM_001206846,NM_018136 ASPM,ASPM EXON Silent,Missense_R2743Q exm134024 1 197070313 [A/G] NM_001206846,NM_018136 ASPM,ASPM EXON Silent,Missense_R2690W exm134028 1 197070372 [A/G] NM_001206846,NM_018136 ASPM,ASPM EXON Silent,Missense_I2670T exm134032 1 197070442 [T/G] NM_001206846,NM_018136 ASPM,ASPM EXON Silent,Missense_L2647I exm134043 1 197070697 [T/C] NM_001206846,NM_018136 ASPM,ASPM EXON Silent,Missense_S2562G exm134052 1 197070816 [A/C] NM_001206846,NM_018136 ASPM,ASPM EXON Silent,Nonsense_L2522X exm134056 1 197070901 [A/G] NM_001206846,NM_018136 ASPM,ASPM EXON Silent,Missense_Y2494H exm1744961 1 197070906 [T/C] NM_001206846,NM_018136 ASPM,ASPM EXON Silent,Missense_R2492K exm134058 1 197070953 [A/C] NM_001206846,NM_018136 ASPM,ASPM EXON Silent,Missense_K2476N exm134067 1 197071224 [T/C] NM_001206846,NM_018136 ASPM,ASPM EXON Silent,Missense_H2386R exm1744965 1 197071267 [T/C] NM_001206846,NM_018136 ASPM,ASPM EXON Silent,Missense_R2372G exm134074 1 197071585 [T/C] NM_001206846,NM_018136 ASPM,ASPM EXON Silent,Missense_A2266T exm134077 1 197071654 [A/C] NM_001206846,NM_018136 ASPM,ASPM EXON Silent,Missense_V2243L exm134085 1 197071813 [A/G] NM_001206846,NM_018136 ASPM,ASPM EXON Silent,Nonsense_Q2190X exm134086 1 197071830 [T/C] NM_001206846,NM_018136 ASPM,ASPM EXON Silent,Missense_R2184Q exm134094 1 197072106 [T/A] NM_001206846,NM_018136 ASPM,ASPM EXON Silent,Missense_N2092I exm134097 1 197072250 [T/C] NM_001206846,NM_018136 ASPM,ASPM EXON Silent,Missense_N2044S exm134098 1 197072256 [T/C] NM_001206846,NM_018136 ASPM,ASPM EXON Silent,Missense_D2042G exm134107 1 197072434 [T/A] NM_001206846,NM_018136 ASPM,ASPM EXON Silent,Missense_M1983L exm2250452 1 197072441 [A/G] NM_001206846,NM_018136 ASPM,ASPM EXON Silent,Synonymous_Y1980Y exm1744976 1 197072484 [T/C] NM_001206846,NM_018136 ASPM,ASPM EXON Silent,Missense_Q1966R exm134112 1 197072560 [A/G] NM_001206846,NM_018136 ASPM,ASPM EXON Silent,Missense_C1941R exm134113 1 197072563 [C/G] NM_001206846,NM_018136 ASPM,ASPM EXON Silent,Missense_Q1940E exm134115 1 197072640 [T/C] NM_001206846,NM_018136 ASPM,ASPM EXON Silent,Missense_Q1914R exm134123 1 197072776 [T/C] NM_001206846,NM_018136 ASPM,ASPM EXON Silent,Missense_T1869A exm134126 1 197072802 [A/G] NM_001206846,NM_018136 ASPM,ASPM EXON Silent,Missense_A1860V exm134129 1 197072830 [T/C] NM_001206846,NM_018136 ASPM,ASPM EXON Silent,Missense_I1851V exm1744979 1 197072871 [T/C] NM_001206846,NM_018136 ASPM,ASPM EXON Silent,Missense_G1837D exm134136 1 197072929 [A/G] NM_001206846,NM_018136 ASPM,ASPM EXON Silent,Missense_R1818C exm134141 1 197073154 [A/G] NM_001206846,NM_018136 ASPM,ASPM EXON Silent,Missense_L1743F exm1744982 1 197073157 [A/G] NM_001206846,NM_018136 ASPM,ASPM EXON Silent,Missense_Y1742H exm134143 1 197073196 [A/G] NM_001206846,NM_018136 ASPM,ASPM EXON Silent,Missense_R1729W exm134151 1 197073298 [A/G] NM_001206846,NM_018136 ASPM,ASPM EXON Silent,Missense_R1695C exm134152 1 197073318 [A/G] NM_001206846,NM_018136 ASPM,ASPM EXON Silent,Missense_T1688I exm134156 1 197073396 [A/C] NM_001206846,NM_018136 ASPM,ASPM EXON Silent,Missense_I1662S exm134161 1 197073484 [A/G] NM_001206846,NM_018136 ASPM,ASPM EXON Silent,Missense_R1633C exm134170 1 197073648 [T/C] NM_001206846,NM_018136 ASPM,ASPM EXON Silent,Missense_R1578Q exm134174 1 197073885 [A/C] NM_001206846,NM_018136 ASPM,ASPM EXON Silent,Missense_R1499L exm134180 1 197073945 [T/C] NM_001206846,NM_018136 ASPM,ASPM EXON Silent,Missense_K1479R exm134183 1 197073979 [T/C] NM_001206846,NM_018136 ASPM,ASPM EXON Silent,Missense_A1468T exm134189 1 197074168 [A/G] NM_001206846,NM_018136 ASPM,ASPM EXON Silent,Missense_R1405C exm134210 1 197091143 [T/C] NM_001206846,NM_018136 ASPM,ASPM EXON Missense_A1258T,Missense_A1258T exm134229 1 197093319 [T/C] NM_001206846,NM_018136 ASPM,ASPM EXON Missense_G1104D,Missense_G1104D exm134231 1 197093361 [A/G] NM_001206846,NM_018136 ASPM,ASPM EXON Missense_S1090F,Missense_S1090F exm134233 1 197093401 [T/G] NM_001206846,NM_018136 ASPM,ASPM EXON Missense_K1077Q,Missense_K1077Q exm134245 1 197094290 [T/C] NM_001206846,NM_018136 ASPM,ASPM EXON Missense_D990N,Missense_D990N exm2232154 1 197097642 [A/C] NM_001206846,NM_018136 ASPM,ASPM EXON Missense_L972V,Missense_L972V exm1745027 1 197102571 [A/T] NM_001206846,NM_018136 ASPM,ASPM EXON Missense_E776D,Missense_E776D exm134274 1 197102632 [T/C] NM_001206846,NM_018136 ASPM,ASPM EXON Missense_Y756C,Missense_Y756C exm134275 1 197102636 [T/C] NM_001206846,NM_018136 ASPM,ASPM EXON Missense_A755T,Missense_A755T exm134277 1 197102681 [T/A] NM_001206846,NM_018136 ASPM,ASPM EXON Missense_I740L,Missense_I740L exm134287 1 197108936 [A/C] NM_001206846,NM_018136 ASPM,ASPM EXON Missense_A663S,Missense_A663S exm134299 1 197111642 [C/G] NM_001206846,NM_018136 ASPM,ASPM EXON Missense_S580R,Missense_S580R exm134300 1 197111650 [T/C] NM_001206846,NM_018136 ASPM,ASPM EXON Missense_D578N,Missense_D578N exm134302 1 197111665 [A/G] NM_001206846,NM_018136 ASPM,ASPM EXON Missense_R573W,Missense_R573W exm134308 1 197111877 [C/G] NM_001206846,NM_018136 ASPM,ASPM EXON Missense_A502G,Missense_A502G exm134312 1 197111931 [T/C] NM_001206846,NM_018136 ASPM,ASPM EXON Missense_N484S,Missense_N484S exm134314 1 197111997 [T/C] NM_001206846,NM_018136 ASPM,ASPM EXON Missense_Y462C,Missense_Y462C exm134316 1 197112078 [A/G] NM_001206846,NM_018136 ASPM,ASPM EXON Missense_S435L,Missense_S435L exm134322 1 197112198 [T/C] NM_001206846,NM_018136 ASPM,ASPM EXON Missense_Q395R,Missense_Q395R exm134324 1 197112241 [A/C] NM_001206846,NM_018136 ASPM,ASPM EXON Missense_D381Y,Missense_D381Y exm134326 1 197112375 [T/G] NM_001206846,NM_018136 ASPM,ASPM EXON Missense_T336K,Missense_T336K exm2232157 1 197112445 [T/C] NM_001206846,NM_018136 ASPM,ASPM EXON Missense_I313V,Missense_I313V exm134329 1 197112477 [T/C] NM_001206846,NM_018136 ASPM,ASPM EXON Missense_C302Y,Missense_C302Y exm134334 1 197112538 [T/G] NM_001206846,NM_018136 ASPM,ASPM EXON Missense_N282H,Missense_N282H exm134339 1 197112706 [A/G] NM_001206846,NM_018136 ASPM,ASPM EXON Missense_P226S,Missense_P226S exm134341 1 197112736 [T/C] NM_001206846,NM_018136 ASPM,ASPM EXON Missense_E216K,Missense_E216K exm134342 1 197112738 [T/G] NM_001206846,NM_018136 ASPM,ASPM EXON Missense_E215A,Missense_E215A exm134345 1 197112756 [T/C] NM_001206846,NM_018136 ASPM,ASPM EXON Missense_N209S,Missense_N209S exm1745046 1 197112801 [T/G] NM_001206846,NM_018136 ASPM,ASPM EXON Missense_A194D,Missense_A194D exm134347 1 197112805 [T/G] NM_001206846,NM_018136 ASPM,ASPM EXON Missense_Q193K,Missense_Q193K exm134349 1 197112807 [A/C] NM_001206846,NM_018136 ASPM,ASPM EXON Missense_L192R,Missense_L192R exm134350 1 197112823 [T/C] NM_001206846,NM_018136 ASPM,ASPM EXON Missense_R187G,Missense_R187G exm134351 1 197112859 [T/C] NM_001206846,NM_018136 ASPM,ASPM EXON Missense_V175I,Missense_V175I exm134358 1 197115345 [T/C] NM_001206846,NM_018136 ASPM,ASPM EXON Missense_A75T,Missense_A75T exm-rs4639796 1 197126649 [A/G] NM_194314 ZBTB41 EXON Silent exm2273344 1 197128470 [A/G] NM_194314 ZBTB41 EXON Silent exm134377 1 197128592 [A/T] NM_194314 ZBTB41 EXON Missense_E876V exm134382 1 197128680 [T/C] NM_194314 ZBTB41 EXON Missense_D847N exm134387 1 197128742 [T/C] NM_194314 ZBTB41 EXON Missense_R826H exm134425 1 197168579 [T/C] NM_194314 ZBTB41 EXON Missense_G342E exm134426 1 197168625 [A/C] NM_194314 ZBTB41 EXON Missense_D327Y exm134429 1 197168747 [T/C] NM_194314 ZBTB41 EXON Missense_D286G exm134438 1 197168987 [T/C] NM_194314 ZBTB41 EXON Missense_N206S exm134440 1 197169011 [T/C] NM_194314 ZBTB41 EXON Missense_E198G exm134447 1 197169445 [T/A] NM_194314 ZBTB41 EXON Missense_E53D exm2275528 1 197169576 [T/C] NM_194314 ZBTB41 EXON Missense_N10D exm134457 1 197237571 [T/C] NM_001257965,NR_047563,NM_001257966,NM_001193640,NR_047564,NM_201253 CRB1,CRB1,CRB1,CRB1,CRB1,CRB1 EXON Silent,Silent,Missense_L10P,Missense_L10P,Silent,Missense_L10P exm134459 1 197297580 [T/G] NM_001257965,NR_047563,NM_001257966,NM_001193640,NR_047564,NM_201253 CRB1,CRB1,CRB1,CRB1,CRB1,CRB1 EXON Silent,Silent,Missense_R33S,Missense_R33S,Silent,Missense_R33S exm134460 1 197297616 [G/C] NM_001257965,NR_047563,NM_001257966,NM_001193640,NR_047564,NM_201253 CRB1,CRB1,CRB1,CRB1,CRB1,CRB1 EXON Silent,Silent,Missense_C45W,Missense_C45W,Silent,Missense_C45W exm2250453 1 197297637 [T/C] NM_001257965,NR_047563,NM_001257966,NM_001193640,NR_047564,NM_201253 CRB1,CRB1,CRB1,CRB1,CRB1,CRB1 EXON Silent,Silent,Synonymous_N52N,Synonymous_N52N,Silent,Synonymous_N52N exm134462 1 197297642 [T/G] NM_001257965,NR_047563,NM_001257966,NM_001193640,NR_047564,NM_201253 CRB1,CRB1,CRB1,CRB1,CRB1,CRB1 EXON Silent,Silent,Missense_C54F,Missense_C54F,Silent,Missense_C54F exm134469 1 197297965 [A/G] NM_001257965,NR_047563,NM_001257966,NM_001193640,NR_047564,NM_201253 CRB1,CRB1,CRB1,CRB1,CRB1,CRB1 EXON Missense_V93M,Silent,Missense_V162M,Missense_V162M,Silent,Missense_V162M exm134474 1 197298095 [T/C] NM_001257965,NR_047563,NM_001257966,NM_001193640,NR_047564,NM_201253 CRB1,CRB1,CRB1,CRB1,CRB1,CRB1 EXON Missense_I136T,Silent,Missense_I205T,Missense_I205T,Silent,Missense_I205T exm134476 1 197313422 [A/G] NM_001257965,NR_047563,NM_001257966,NM_001193640,NR_047564,NM_201253 CRB1,CRB1,CRB1,CRB1,CRB1,CRB1 EXON Missense_E153K,Silent,Missense_E222K,Silent,Silent,Missense_E222K exm134477 1 197313437 [A/G] NM_001257965,NR_047563,NM_001257966,NM_001193640,NR_047564,NM_201253 CRB1,CRB1,CRB1,CRB1,CRB1,CRB1 EXON Missense_E158K,Silent,Missense_E227K,Silent,Silent,Missense_E227K exm-rs2786098 1 197325908 [T/G] NM_001257965,NR_047563,NM_001257966,NM_001193640,NR_047564,NM_201253 CRB1,CRB1,CRB1,CRB1,CRB1,CRB1 Silent,Silent,Silent,Silent,Silent,Silent exm2265070 1 197359999 [A/G] NM_001257965,NR_047563,NM_001257966,NM_001193640,NR_047564,NM_201253 CRB1,CRB1,CRB1,CRB1,CRB1,CRB1 Silent,Silent,Silent,Silent,Silent,Silent exm134548 1 197396584 [T/A] NM_001257965,NR_047563,NM_001257966,NM_001193640,NR_047564,NM_201253 CRB1,CRB1,CRB1,CRB1,CRB1,CRB1 EXON Missense_E641V,Silent,Silent,Missense_E598V,Silent,Missense_E710V exm134551 1 197396680 [T/C] NM_001257965,NR_047563,NM_001257966,NM_001193640,NR_047564,NM_201253 CRB1,CRB1,CRB1,CRB1,CRB1,CRB1 EXON Missense_F673S,Silent,Silent,Missense_F630S,Silent,Missense_F742S exm134552 1 197396685 [A/C] NM_001257965,NR_047563,NM_001257966,NM_001193640,NR_047564,NM_201253 CRB1,CRB1,CRB1,CRB1,CRB1,CRB1 EXON Synonymous_R675R,Silent,Silent,Synonymous_R632R,Silent,Synonymous_R744R exm134554 1 197396745 [T/C] NM_001257965,NR_047563,NM_001257966,NM_001193640,NR_047564,NM_201253 CRB1,CRB1,CRB1,CRB1,CRB1,CRB1 EXON Missense_R695C,Silent,Silent,Missense_R652C,Silent,Missense_R764C exm134557 1 197396761 [A/G] NM_001257965,NR_047563,NM_001257966,NM_001193640,NR_047564,NM_201253 CRB1,CRB1,CRB1,CRB1,CRB1,CRB1 EXON Missense_R700H,Silent,Silent,Missense_R657H,Silent,Missense_R769H exm134563 1 197396853 [A/G] NM_001257965,NR_047563,NM_001257966,NM_001193640,NR_047564,NM_201253 CRB1,CRB1,CRB1,CRB1,CRB1,CRB1 EXON Missense_I731V,Silent,Silent,Missense_I688V,Silent,Missense_I800V exm134567 1 197396917 [T/C] NM_001257965,NR_047563,NM_001257966,NM_001193640,NR_047564,NM_201253 CRB1,CRB1,CRB1,CRB1,CRB1,CRB1 EXON Missense_T752M,Silent,Silent,Missense_T709M,Silent,Missense_T821M exm134571 1 197396961 [A/C] NM_001257965,NR_047563,NM_001257966,NM_001193640,NR_047564,NM_201253 CRB1,CRB1,CRB1,CRB1,CRB1,CRB1 EXON Missense_P767T,Silent,Silent,Missense_P724T,Silent,Missense_P836T exm134580 1 197398616 [A/G] NM_001257965,NR_047563,NM_001257966,NM_001193640,NR_047564,NM_201253 CRB1,CRB1,CRB1,CRB1,CRB1,CRB1 EXON Missense_R881Q,Silent,Silent,Missense_R793Q,Silent,Missense_R905Q exm134581 1 197398648 [T/C] NM_001257965,NR_047563,NM_001257966,NM_001193640,NR_047564,NM_201253 CRB1,CRB1,CRB1,CRB1,CRB1,CRB1 EXON Missense_L892F,Silent,Silent,Missense_L804F,Silent,Missense_L916F exm134587 1 197403836 [A/G] NM_001257965,NR_047563,NM_001257966,NM_001193640,NR_047564,NM_201253 CRB1,CRB1,CRB1,CRB1,CRB1,CRB1 EXON Missense_C924Y,Silent,Silent,Missense_C836Y,Silent,Missense_C948Y exm134608 1 197404390 [A/G] NM_001257965,NR_047563,NM_001257966,NM_001193640,NR_047564,NM_201253 CRB1,CRB1,CRB1,CRB1,CRB1,CRB1 EXON Missense_V1109M,Silent,Silent,Missense_V1021M,Silent,Missense_V1133M exm134616 1 197404618 [A/G] NM_001257965,NR_047563,NM_001257966,NM_001193640,NR_047564,NM_201253 CRB1,CRB1,CRB1,CRB1,CRB1,CRB1 EXON Missense_V1185M,Silent,Silent,Missense_V1097M,Silent,Missense_V1209M exm134618 1 197404688 [A/G] NM_001257965,NR_047563,NM_001257966,NM_001193640,NR_047564,NM_201253 CRB1,CRB1,CRB1,CRB1,CRB1,CRB1 EXON Missense_H1208R,Silent,Silent,Missense_H1120R,Silent,Missense_H1232R exm134620 1 197407736 [A/G] NM_001257965,NR_047563,NM_001257966,NM_001193640,NR_047564,NM_201253 CRB1,CRB1,CRB1,CRB1,CRB1,CRB1 EXON Missense_N1246S,Silent,Missense_N734S,Missense_N1158S,Silent,Missense_N1270S exm2273732 1 197407751 [G/C] NM_001257965,NR_047563,NM_001257966,NM_001193640,NR_047564,NM_201253 CRB1,CRB1,CRB1,CRB1,CRB1,CRB1 EXON Missense_T1251R,Silent,Missense_T739R,Missense_T1163R,Silent,Missense_T1275R exm134631 1 197411409 [A/G] NM_001257965,NR_047563,NM_001257966,NM_001193640,NR_047564,NM_201253 CRB1,CRB1,CRB1,CRB1,CRB1,CRB1 EXON Missense_R1307H,Silent,Missense_R795H,Missense_R1219H,Silent,Missense_R1331H exm134636 1 197446848 [A/G] NM_001257965,NR_047563,NM_001257966,NM_001193640,NR_047564,NM_201253 CRB1,CRB1,CRB1,CRB1,CRB1,CRB1 EXON Missense_A1330T,Silent,Missense_A818T,Missense_A1242T,Silent,Missense_A1354T exm134641 1 197446936 [A/G] NM_001257965,NR_047563,NM_001257966,NM_001193640,NR_047564,NM_201253 CRB1,CRB1,CRB1,CRB1,CRB1,CRB1 EXON Missense_R1359H,Silent,Missense_R847H,Missense_R1271H,Silent,Missense_R1383H exm134647 1 197479723 [T/G] NM_001195215 DENND1B EXON Missense_E732A exm134648 1 197479756 [T/C] NM_001195215 DENND1B EXON Missense_R721Q exm1745153 1 197480884 [T/C] NM_001195215 DENND1B EXON Missense_M597V exm134663 1 197480986 [T/C] NM_001195215 DENND1B EXON Missense_G563S exm134664 1 197480994 [A/G] NM_001195215 DENND1B EXON Missense_P560L exm134671 1 197482080 [A/G] NM_001195215 DENND1B EXON Missense_R507C exm2264942 1 197482265 [A/G] NM_001195215 DENND1B Silent exm134673 1 197509107 [T/C] NM_001195215 DENND1B EXON Missense_R501H exm134691 1 197552310 [A/G] NM_001195215,NM_144977 DENND1B,DENND1B EXON Missense_T374I,Missense_T374I exm134700 1 197564423 [A/G] NM_001195215,NM_144977 DENND1B,DENND1B EXON Missense_A321V,Missense_A321V exm134721 1 197621365 [T/C] NM_001195215,NM_144977 DENND1B,DENND1B EXON Synonymous_V149V,Synonymous_V149V exm1745193 1 197643277 [T/A] NM_001195215,NM_144977 DENND1B,DENND1B EXON Missense_K50M,Missense_K50M exm134732 1 197684161 [T/C] NM_001195215,NM_144977 DENND1B,DENND1B EXON Synonymous_Q42Q,Synonymous_Q42Q exm-rs1998598 1 197727642 [A/G] NM_001195215,NM_144977,NM_001195216 DENND1B,DENND1B,DENND1B Silent,Silent,Silent exm-rs12134279 1 197781198 [T/C] exm134750 1 197871863 [A/G] NM_001024594 C1orf53 EXON Nonsense_W28X exm134764 1 197876319 [A/G] NM_001024594 C1orf53 EXON Missense_K136R exm134769 1 197881691 [T/G] NM_001014434 LHX9 Silent exm134779 1 197887095 [A/G] NM_001014434,NM_020204 LHX9,LHX9 EXON Missense_A39T,Missense_A48T exm134780 1 197887105 [T/C] NM_001014434,NM_020204 LHX9,LHX9 EXON Missense_A42V,Missense_A51V exm134794 1 197890684 [A/G] NM_001014434,NM_020204 LHX9,LHX9 EXON Missense_G201S,Missense_G210S exm134803 1 197890754 [T/C] NM_001014434,NM_020204 LHX9,LHX9 EXON Missense_P224L,Missense_P233L exm1745234 1 197890772 [T/G] NM_001014434,NM_020204 LHX9,LHX9 EXON Missense_I230S,Missense_I239S exm134811 1 197898187 [A/T] NM_001014434,NM_020204 LHX9,LHX9 EXON Missense_N322I,Missense_N331I exm2268808 1 198055493 [T/C] exm134822 1 198201732 [A/C] NM_133494 NEK7 EXON Missense_M8L exm-rs4420115 1 198365219 [T/C] exm134867 1 198492562 [T/C] NM_133262,NM_133326 ATP6V1G3,ATP6V1G3 EXON Missense_M106V,Silent exm134873 1 198498234 [G/C] NM_133262,NM_133326 ATP6V1G3,ATP6V1G3 EXON Missense_E54Q,Silent exm134874 1 198498263 [A/G] NM_133262,NM_133326 ATP6V1G3,ATP6V1G3 EXON Missense_I44T,Synonymous_N59N exm134875 1 198498299 [T/C] NM_133262,NM_133326 ATP6V1G3,ATP6V1G3 EXON Missense_R32Q,Synonymous_A47A exm134878 1 198505830 [T/C] NM_133262,NM_133326 ATP6V1G3,ATP6V1G3 EXON Silent,Missense_R36Q exm134879 1 198505831 [A/G] NM_133262,NM_133326 ATP6V1G3,ATP6V1G3 EXON Silent,Nonsense_R36X exm134881 1 198509731 [T/C] NM_133262,NM_133326 ATP6V1G3,ATP6V1G3 EXON Missense_R17Q,Missense_R17Q exm134882 1 198509732 [A/G] NM_133262,NM_133326 ATP6V1G3,ATP6V1G3 EXON Missense_R17W,Missense_R17W exm-rs12127588 1 198595506 [A/G] exm2268809 1 198634625 [T/C] NR_052021,NM_001267798,NM_080921,NM_002838 PTPRC,PTPRC,PTPRC,PTPRC Silent,Silent,Silent,Silent exm134890 1 198665894 [A/G] NM_080921,NM_002838 PTPRC,PTPRC EXON Silent,Missense_T52A exm134894 1 198666000 [T/C] NM_080921,NM_002838 PTPRC,PTPRC EXON Silent,Missense_P87L exm134898 1 198668731 [T/G] NM_080921,NM_002838 PTPRC,PTPRC EXON Silent,Missense_A113S exm134900 1 198668741 [A/C] NM_080921,NM_002838 PTPRC,PTPRC EXON Silent,Missense_Q116P exm134914 1 198671653 [A/G] NM_080921,NM_002838 PTPRC,PTPRC EXON Silent,Missense_T193A exm134921 1 198672489 [A/C] NM_080921,NM_002838 PTPRC,PTPRC EXON Missense_T55P,Missense_T216P exm134926 1 198675959 [T/G] NM_080921,NM_002838 PTPRC,PTPRC EXON Missense_G100V,Missense_G261V exm2250459 1 198676014 [A/G] NM_080921,NM_002838 PTPRC,PTPRC EXON Synonymous_A118A,Synonymous_A279A exm134933 1 198676063 [A/C] NM_080921,NM_002838 PTPRC,PTPRC EXON Missense_I135L,Missense_I296L exm134938 1 198677339 [A/G] NM_080921,NM_002838 PTPRC,PTPRC EXON Missense_I167V,Missense_I328V exm134939 1 198677342 [A/G] NM_080921,NM_002838 PTPRC,PTPRC EXON Missense_E168K,Missense_E329K exm134940 1 198677352 [T/C] NM_080921,NM_002838 PTPRC,PTPRC EXON Missense_T171I,Missense_T332I exm134948 1 198678834 [A/G] NM_080921,NM_002838 PTPRC,PTPRC EXON Missense_N190S,Missense_N351S exm134953 1 198682103 [T/C] NM_080921,NM_002838 PTPRC,PTPRC EXON Missense_I237T,Missense_I398T exm134954 1 198682178 [T/C] NM_080921,NM_002838 PTPRC,PTPRC EXON Missense_T262I,Missense_T423I exm134955 1 198682180 [T/C] NM_080921,NM_002838 PTPRC,PTPRC EXON Missense_L263F,Missense_L424F exm134957 1 198685816 [A/G] NM_080921,NM_002838 PTPRC,PTPRC EXON Missense_D272N,Missense_D433N exm134960 1 198685898 [A/G] NM_080921,NM_002838 PTPRC,PTPRC EXON Missense_H299R,Missense_H460R exm134962 1 198685960 [A/G] NM_080921,NM_002838 PTPRC,PTPRC EXON Missense_K320E,Missense_K481E exm134965 1 198687340 [T/A] NM_080921,NM_002838 PTPRC,PTPRC EXON Missense_E362V,Missense_E523V exm134968 1 198687384 [A/G] NM_080921,NM_002838 PTPRC,PTPRC EXON Missense_D377N,Missense_D538N exm134976 1 198691595 [A/T] NM_080921,NM_002838 PTPRC,PTPRC EXON Missense_H409Q,Missense_H570Q exm134996 1 198704313 [A/G] NM_080921,NM_002838 PTPRC,PTPRC EXON Missense_V618I,Missense_V779I exm134999 1 198711084 [C/G] NM_080921,NM_002838 PTPRC,PTPRC EXON Missense_L669F,Missense_L830F exm135018 1 198717311 [A/G] NM_080921,NM_002838 PTPRC,PTPRC EXON Missense_N813S,Missense_N974S exm135021 1 198718604 [A/G] NM_080921,NM_002838 PTPRC,PTPRC EXON Missense_D839N,Missense_D1000N exm135032 1 198721822 [A/G] NM_080921,NM_002838 PTPRC,PTPRC EXON Missense_V983I,Missense_V1144I exm135035 1 198723400 [A/C] NM_080921,NM_002838 PTPRC,PTPRC EXON Missense_D1010A,Missense_D1171A exm135036 1 198723433 [T/C] NM_080921,NM_002838 PTPRC,PTPRC EXON Missense_L1021S,Missense_L1182S exm135040 1 198723466 [A/C] NM_080921,NM_002838 PTPRC,PTPRC EXON Missense_E1032A,Missense_E1193A exm135042 1 198723502 [A/G] NM_080921,NM_002838 PTPRC,PTPRC EXON Missense_R1044H,Missense_R1205H exm135044 1 198725059 [A/G] NM_080921,NM_002838 PTPRC,PTPRC EXON Missense_V1063I,Missense_V1224I exm135052 1 198725233 [G/C] NM_080921,NM_002838 PTPRC,PTPRC EXON Missense_E1121Q,Missense_E1282Q exm135055 1 198725303 [G/C] NM_080921,NM_002838 PTPRC,PTPRC EXON Missense_G1144A,Missense_G1305A exm2265071 1 199238445 [A/G] exm2268810 1 199274467 [T/C] exm-rs16844716 1 199356516 [A/C] exm2268811 1 199441521 [T/C] exm135099 1 199997003 [T/A] NM_205860,NM_003822 NR5A2,NR5A2 EXON Missense_L10I,Missense_L10I exm2259928 1 199997778 [A/G] NM_205860,NM_003822 NR5A2,NR5A2 Silent,Silent exm-rs3790844 1 200007432 [A/G] NM_205860,NM_003822 NR5A2,NR5A2 Silent,Silent exm2273734 1 200017566 [T/C] NM_205860,NM_003822,NM_001276464 NR5A2,NR5A2,NR5A2 EXON Missense_P244S,Missense_P198S,Missense_P172S exm135143 1 200017720 [T/C] NM_205860,NM_003822,NM_001276464 NR5A2,NR5A2,NR5A2 EXON Missense_T295M,Missense_T249M,Missense_T223M exm2268812 1 200107578 [T/C] NM_205860,NM_003822,NM_001276464 NR5A2,NR5A2,NR5A2 Silent,Silent,Silent exm-rs4551624 1 200151824 [T/C] exm135186 1 200182788 [T/C] exm135192 1 200182970 [A/G] exm135207 1 200183278 [T/C] exm135214 1 200183398 [A/C] exm135226 1 200376527 [T/C] NM_012482 ZNF281 EXON Missense_I769M exm135239 1 200376786 [T/C] NM_012482 ZNF281 EXON Missense_S683N exm135247 1 200377105 [T/C] NM_012482 ZNF281 EXON Missense_N577D exm135262 1 200377552 [T/C] NM_012482 ZNF281 EXON Missense_I428V exm135272 1 200378080 [T/C] NM_012482 ZNF281 EXON Missense_A252T exm1745569 1 200378161 [T/G] NM_012482 ZNF281 EXON Missense_K225Q exm135285 1 200378442 [T/C] NM_012482 ZNF281 EXON Missense_K131R exm135301 1 200522566 [C/G] NM_014875 KIF14 EXON Missense_P1633A exm135307 1 200522620 [T/C] NM_014875 KIF14 EXON Missense_G1615S exm135309 1 200522628 [T/C] NM_014875 KIF14 EXON Missense_G1612E exm135321 1 200528471 [T/C] NM_014875 KIF14 EXON Missense_C1447Y exm135326 1 200528567 [A/T] NM_014875 KIF14 EXON Missense_D1415V exm135328 1 200529954 [C/G] NM_014875 KIF14 EXON Missense_Q1376E exm135332 1 200534255 [T/A] NM_014875 KIF14 EXON Missense_E1338V exm135335 1 200534651 [T/G] NM_014875 KIF14 EXON Missense_S1270R exm135340 1 200534726 [T/A] NM_014875 KIF14 EXON Missense_L1245M exm135342 1 200539038 [A/C] NM_014875 KIF14 Silent exm1745590 1 200539040 [T/C] NM_014875 KIF14 EXON Synonymous_S1220S exm135344 1 200539080 [T/C] NM_014875 KIF14 EXON Missense_Q1207R exm135345 1 200539089 [T/C] NM_014875 KIF14 EXON Missense_H1204R exm135347 1 200539111 [T/C] NM_014875 KIF14 EXON Missense_R1197G exm135362 1 200550369 [T/C] NM_014875 KIF14 EXON Missense_A1099T exm135365 1 200550390 [T/C] NM_014875 KIF14 EXON Missense_M1092V exm135366 1 200550417 [T/C] NM_014875 KIF14 EXON Missense_T1083A exm135370 1 200555289 [T/C] NM_014875 KIF14 EXON Missense_I1061V exm135373 1 200558376 [T/C] NM_014875 KIF14 EXON Missense_R1028Q exm135380 1 200561238 [T/G] NM_014875 KIF14 EXON Missense_K928T exm135383 1 200561290 [A/G] NM_014875 KIF14 EXON Missense_S911P exm135390 1 200567387 [T/C] NM_014875 KIF14 EXON Missense_V843M exm1745613 1 200567392 [A/G] NM_014875 KIF14 EXON Missense_S841F exm135400 1 200569234 [T/C] NM_014875 KIF14 EXON Missense_K770E exm135407 1 200569583 [T/C] NM_014875 KIF14 EXON Missense_R734Q exm135413 1 200571080 [T/C] NM_014875 KIF14 EXON Missense_R699H exm135414 1 200571081 [A/G] NM_014875 KIF14 EXON Missense_R699C exm135432 1 200574499 [T/C] NM_014875 KIF14 EXON Missense_N553S exm135446 1 200583529 [T/C] NM_014875 KIF14 EXON Missense_M458V exm135451 1 200584666 [A/G] NM_014875 KIF14 EXON Missense_T395M exm1745635 1 200586759 [A/C] NM_014875 KIF14 EXON Missense_V365L exm135456 1 200586765 [T/C] NM_014875 KIF14 EXON Missense_V363I exm135462 1 200586911 [T/C] NM_014875 KIF14 EXON Missense_K314R exm135481 1 200587506 [T/C] NM_014875 KIF14 EXON Missense_E116K exm135483 1 200587587 [T/C] NM_014875 KIF14 EXON Missense_A89T exm135486 1 200587632 [T/C] NM_014875 KIF14 EXON Missense_K74E exm135487 1 200587680 [G/C] NM_014875 KIF14 EXON Missense_G58R exm135488 1 200587701 [T/C] NM_014875 KIF14 EXON Missense_D51N exm135512 1 200613555 [A/G] NM_001031725 DDX59 EXON Nonsense_R563X exm135520 1 200617625 [T/C] NM_001031725 DDX59 EXON Missense_S513N exm135521 1 200617644 [A/G] NM_001031725 DDX59 EXON Nonsense_R507X exm135523 1 200617655 [T/C] NM_001031725 DDX59 EXON Missense_G503E exm135529 1 200618246 [T/C] NM_001031725 DDX59 EXON Missense_I475V exm135531 1 200618278 [A/G] NM_001031725 DDX59 EXON Missense_V464A exm135534 1 200618311 [T/C] NM_001031725 DDX59 EXON Missense_C453Y exm135535 1 200618332 [A/G] NM_001031725 DDX59 EXON Missense_P446L exm135548 1 200619614 [T/C] NM_001031725 DDX59 EXON Missense_R418H exm135551 1 200619654 [T/C] NM_001031725 DDX59 EXON Missense_I405V exm135563 1 200633073 [T/G] NM_001031725 DDX59 EXON Missense_L316I exm135567 1 200635067 [T/C] NM_001031725 DDX59 EXON Missense_E268K exm135577 1 200635358 [A/G] NM_001031725 DDX59 EXON Missense_H171Y exm135580 1 200635372 [T/C] NM_001031725 DDX59 EXON Missense_Y166C exm1745654 1 200635460 [C/G] NM_001031725 DDX59 EXON Missense_L137V exm135584 1 200635483 [A/C] NM_001031725 DDX59 EXON Missense_L129W exm1745656 1 200635541 [A/C] NM_001031725 DDX59 EXON Missense_V110F exm135589 1 200635550 [T/C] NM_001031725 DDX59 EXON Missense_I107V exm135596 1 200635721 [G/C] NM_001031725 DDX59 EXON Missense_A50P exm2268813 1 200672410 [T/G] exm-rs7512898 1 200672906 [T/G] exm1745665 1 200709059 [A/G] NM_203459 CAMSAP2 EXON Missense_N35S exm135602 1 200709061 [C/G] NM_203459 CAMSAP2 EXON Missense_L36V exm135630 1 200801406 [A/G] NM_203459 CAMSAP2 EXON Missense_T242A exm135632 1 200801451 [A/G] NM_203459 CAMSAP2 EXON Missense_D257N exm135635 1 200801935 [A/G] NM_203459 CAMSAP2 EXON Missense_T297A exm135639 1 200816348 [T/G] NM_203459 CAMSAP2 EXON Missense_A374S exm135640 1 200816372 [T/C] NM_203459 CAMSAP2 EXON Missense_H382Y exm135648 1 200817258 [A/G] NM_203459 CAMSAP2 EXON Missense_N454S exm135650 1 200817285 [A/G] NM_203459 CAMSAP2 EXON Missense_H463R exm135652 1 200817319 [A/C] NM_203459 CAMSAP2 EXON Missense_F474L exm135656 1 200817399 [A/G] NM_203459 CAMSAP2 EXON Missense_C501Y exm135664 1 200817765 [T/C] NM_203459 CAMSAP2 EXON Missense_M623T exm135670 1 200817836 [A/C] NM_203459 CAMSAP2 EXON Missense_L647I exm135676 1 200817998 [A/G] NM_203459 CAMSAP2 EXON Missense_D701N exm135690 1 200818407 [T/G] NM_203459 CAMSAP2 EXON Missense_I837R exm135692 1 200818463 [A/G] NM_203459 CAMSAP2 EXON Missense_I856V exm2232193 1 200818770 [T/C] NM_203459 CAMSAP2 EXON Missense_P958L exm135699 1 200818827 [T/C] NM_203459 CAMSAP2 EXON Missense_T977I exm1745718 1 200818979 [T/C] NM_203459 CAMSAP2 EXON Missense_P1028S exm135702 1 200818980 [G/C] NM_203459 CAMSAP2 EXON Missense_P1028R exm135706 1 200819229 [A/G] NM_203459 CAMSAP2 EXON Missense_N1111S exm135716 1 200822482 [T/C] NM_203459 CAMSAP2 EXON Missense_R1228W exm135738 1 200827126 [A/G] NM_203459 CAMSAP2 EXON Missense_S1459N exm135743 1 200842245 [T/C] NM_005298 GPR25 EXON Missense_L27P exm135770 1 200843127 [C/G] NM_005298 GPR25 EXON Missense_G321A exm135773 1 200843212 [A/C] NM_005298 GPR25 EXON Nonsense_C349X exm1745752 1 200867482 [A/G] NM_018265,NM_001142569 C1orf106,C1orf106 EXON Missense_R84Q,Silent exm135786 1 200867503 [A/G] NM_018265,NM_001142569 C1orf106,C1orf106 EXON Missense_C91Y,Silent exm135789 1 200867572 [A/T] NM_018265,NM_001142569 C1orf106,C1orf106 EXON Missense_I114N,Missense_I15N exm135799 1 200869239 [T/C] NM_018265,NM_001142569 C1orf106,C1orf106 EXON Missense_T162M,Missense_T63M exm1745762 1 200870222 [A/G] NM_018265,NM_001142569 C1orf106,C1orf106 EXON Missense_R251H,Missense_R152H exm-rs7554511 1 200877562 [A/C] NM_018265,NM_001142569 C1orf106,C1orf106 Silent,Silent exm135824 1 200877909 [A/G] NM_018265,NM_001142569 C1orf106,C1orf106 EXON Missense_R308Q,Missense_R209Q exm135830 1 200877974 [T/C] NM_018265,NM_001142569 C1orf106,C1orf106 EXON Missense_R330W,Missense_R231W exm135832 1 200878026 [T/A] NM_018265,NM_001142569 C1orf106,C1orf106 EXON Missense_Y347F,Missense_Y248F exm135835 1 200878061 [A/G] NM_018265,NM_001142569 C1orf106,C1orf106 EXON Missense_E359K,Missense_E260K exm1745767 1 200878437 [T/C] NM_018265,NM_001142569 C1orf106,C1orf106 EXON Missense_R390C,Missense_R291C exm135852 1 200880682 [A/C] NM_018265,NM_001142569 C1orf106,C1orf106 EXON Missense_P453H,Missense_P354H exm135854 1 200880702 [T/C] NM_018265,NM_001142569 C1orf106,C1orf106 EXON Missense_P460S,Missense_P361S exm135860 1 200880817 [C/G] NM_018265,NM_001142569 C1orf106,C1orf106 EXON Missense_S498C,Missense_S399C exm135875 1 200882687 [A/G] NM_018265,NM_001142569 C1orf106,C1orf106 EXON Missense_R655Q,Missense_R556Q exm-rs296547 1 200892137 [T/C] exm-rs11584383 1 200935866 [T/C] exm135882 1 200943291 [A/G] NM_001252102,NM_001252100,NM_001252103,NM_017596 KIF21B,KIF21B,KIF21B,KIF21B EXON Silent,Missense_P1616S,Silent,Missense_P1603S exm135883 1 200943861 [A/G] NM_001252102,NM_001252100,NM_001252103,NM_017596 KIF21B,KIF21B,KIF21B,KIF21B EXON Missense_H1599Y,Missense_H1599Y,Missense_H1586Y,Missense_H1586Y exm2232198 1 200944710 [T/C] NM_001252102,NM_001252100,NM_001252103,NM_017596 KIF21B,KIF21B,KIF21B,KIF21B EXON Missense_A1511T,Missense_A1511T,Missense_A1498T,Missense_A1498T exm135908 1 200945956 [A/G] NM_001252102,NM_001252100,NM_001252103,NM_017596 KIF21B,KIF21B,KIF21B,KIF21B EXON Missense_T1464M,Missense_T1464M,Missense_T1451M,Missense_T1451M exm1745805 1 200956152 [T/C] NM_001252102,NM_001252100,NM_001252103,NM_017596 KIF21B,KIF21B,KIF21B,KIF21B EXON Missense_V1196I,Missense_V1196I,Missense_V1196I,Missense_V1196I exm2275362 1 200957662 [A/G] NM_001252102,NM_001252100,NM_001252103,NM_017596 KIF21B,KIF21B,KIF21B,KIF21B EXON Synonymous_Y1103Y,Synonymous_Y1103Y,Synonymous_Y1103Y,Synonymous_Y1103Y exm135989 1 200959266 [T/C] NM_001252102,NM_001252100,NM_001252103,NM_017596 KIF21B,KIF21B,KIF21B,KIF21B EXON Synonymous_K1010K,Synonymous_K1010K,Synonymous_K1010K,Synonymous_K1010K exm2250472 1 200959302 [A/G] NM_001252102,NM_001252100,NM_001252103,NM_017596 KIF21B,KIF21B,KIF21B,KIF21B EXON Synonymous_D998D,Synonymous_D998D,Synonymous_D998D,Synonymous_D998D exm1745813 1 200959760 [T/C] NM_001252102,NM_001252100,NM_001252103,NM_017596 KIF21B,KIF21B,KIF21B,KIF21B EXON Missense_V927I,Missense_V927I,Missense_V927I,Missense_V927I exm136011 1 200960091 [A/T] NM_001252102,NM_001252100,NM_001252103,NM_017596 KIF21B,KIF21B,KIF21B,KIF21B EXON Missense_L881M,Missense_L881M,Missense_L881M,Missense_L881M exm136015 1 200960180 [A/G] NM_001252102,NM_001252100,NM_001252103,NM_017596 KIF21B,KIF21B,KIF21B,KIF21B EXON Missense_S851L,Missense_S851L,Missense_S851L,Missense_S851L exm136016 1 200960204 [A/G] NM_001252102,NM_001252100,NM_001252103,NM_017596 KIF21B,KIF21B,KIF21B,KIF21B EXON Missense_M843T,Missense_M843T,Missense_M843T,Missense_M843T exm136020 1 200960225 [T/C] NM_001252102,NM_001252100,NM_001252103,NM_017596 KIF21B,KIF21B,KIF21B,KIF21B EXON Missense_R836H,Missense_R836H,Missense_R836H,Missense_R836H exm-rs2297909 1 200960307 [A/G] NM_001252102,NM_001252100,NM_001252103,NM_017596 KIF21B,KIF21B,KIF21B,KIF21B Silent,Silent,Silent,Silent exm136028 1 200961441 [A/G] NM_001252102,NM_001252100,NM_001252103,NM_017596 KIF21B,KIF21B,KIF21B,KIF21B EXON Missense_A785V,Missense_A785V,Missense_A785V,Missense_A785V exm136055 1 200967638 [T/C] NM_001252102,NM_001252100,NM_001252103,NM_017596 KIF21B,KIF21B,KIF21B,KIF21B EXON Missense_D651N,Missense_D651N,Missense_D651N,Missense_D651N exm136090 1 200971329 [G/C] NM_001252102,NM_001252100,NM_001252103,NM_017596 KIF21B,KIF21B,KIF21B,KIF21B EXON Missense_Q454H,Missense_Q454H,Missense_Q454H,Missense_Q454H exm136134 1 200974729 [T/C] NM_001252102,NM_001252100,NM_001252103,NM_017596 KIF21B,KIF21B,KIF21B,KIF21B EXON Missense_N181D,Missense_N181D,Missense_N181D,Missense_N181D exm136143 1 200977949 [T/C] NM_001252102,NM_001252100,NM_001252103,NM_017596 KIF21B,KIF21B,KIF21B,KIF21B EXON Missense_Q132R,Missense_Q132R,Missense_Q132R,Missense_Q132R exm2250473 1 200977990 [T/G] NM_001252102,NM_001252100,NM_001252103,NM_017596 KIF21B,KIF21B,KIF21B,KIF21B EXON Synonymous_A118A,Synonymous_A118A,Synonymous_A118A,Synonymous_A118A exm136153 1 200978030 [A/G] NM_001252102,NM_001252100,NM_001252103,NM_017596 KIF21B,KIF21B,KIF21B,KIF21B EXON Missense_T105M,Missense_T105M,Missense_T105M,Missense_T105M exm136174 1 201009011 [T/C] NM_000069 CACNA1S EXON Missense_S1857N exm136179 1 201009066 [A/G] NM_000069 CACNA1S EXON Missense_P1839S exm136180 1 201009071 [T/G] NM_000069 CACNA1S EXON Missense_E1837A exm136182 1 201009182 [A/G] NM_000069 CACNA1S EXON Missense_L1800S exm136193 1 201010719 [T/C] NM_000069 CACNA1S Silent exm136194 1 201012449 [A/T] NM_000069 CACNA1S EXON Missense_Y1670N exm136201 1 201012484 [T/C] NM_000069 CACNA1S EXON Missense_R1658H exm136202 1 201012485 [A/G] NM_000069 CACNA1S EXON Missense_R1658C exm136203 1 201012503 [A/G] NM_000069 CACNA1S EXON Missense_R1652C exm136205 1 201012541 [A/T] NM_000069 CACNA1S EXON Missense_E1639V exm136215 1 201013506 [T/C] NM_000069 CACNA1S EXON Missense_E1583K exm136216 1 201013535 [A/G] NM_000069 CACNA1S EXON Missense_T1573M exm136219 1 201013548 [T/C] NM_000069 CACNA1S EXON Missense_E1569K exm136224 1 201016296 [A/G] NM_000069 CACNA1S EXON Missense_R1539C exm136255 1 201020164 [A/G] NM_000069 CACNA1S EXON Missense_T1354I exm136256 1 201020165 [A/T] NM_000069 CACNA1S EXON Missense_T1354S exm136270 1 201021733 [T/C] NM_000069 CACNA1S EXON Missense_R1302Q exm136275 1 201022387 [T/C] NM_000069 CACNA1S EXON Missense_A1271T exm136279 1 201022587 [A/C] NM_000069 CACNA1S EXON Missense_Q1265H exm136285 1 201023671 [T/C] NM_000069 CACNA1S EXON Missense_G1210R exm136292 1 201028388 [T/C] NM_000069 CACNA1S EXON Missense_I1152V exm136293 1 201028417 [T/G] NM_000069 CACNA1S EXON Missense_Q1142P exm136297 1 201029794 [T/C] NM_000069 CACNA1S EXON Missense_G1136S exm136299 1 201029866 [A/C] NM_000069 CACNA1S EXON Missense_W1112G exm136321 1 201031133 [T/C] NM_000069 CACNA1S EXON Missense_D998N exm136324 1 201031168 [T/C] NM_000069 CACNA1S EXON Missense_R986H exm136342 1 201035444 [T/C] NM_000069 CACNA1S EXON Synonymous_E886E exm136348 1 201036117 [A/G] NM_000069 CACNA1S EXON Missense_T852M exm136350 1 201038610 [A/G] NM_000069 CACNA1S EXON Missense_M827T exm136354 1 201038650 [T/C] NM_000069 CACNA1S EXON Missense_A814T exm2232205 1 201038709 [T/C] NM_000069 CACNA1S EXON Missense_R794H exm136370 1 201042735 [A/G] NM_000069 CACNA1S EXON Missense_T700M exm136374 1 201043649 [T/C] NM_000069 CACNA1S EXON Missense_R683H exm136390 1 201044682 [A/G] NM_000069 CACNA1S EXON Missense_P630L exm136400 1 201046058 [T/C] NM_000069 CACNA1S EXON Missense_S606N exm136403 1 201046098 [A/G] NM_000069 CACNA1S EXON Missense_R593W exm136404 1 201046164 [T/C] NM_000069 CACNA1S EXON Missense_V571I exm136407 1 201046205 [T/C] NM_000069 CACNA1S EXON Missense_R557H exm136416 1 201047079 [A/G] NM_000069 CACNA1S EXON Missense_S516L exm2275531 1 201047133 [A/C] NM_000069 CACNA1S EXON Missense_R498L exm1746012 1 201047231 [A/G] NM_000069 CACNA1S EXON Synonymous_D465D exm136436 1 201052310 [A/T] NM_000069 CACNA1S EXON Missense_L458H exm136441 1 201052358 [A/G] NM_000069 CACNA1S EXON Missense_V442A exm136445 1 201052382 [A/G] NM_000069 CACNA1S EXON Missense_F434S exm136451 1 201054144 [A/T] NM_000069 CACNA1S EXON Missense_D389V exm136453 1 201054159 [T/C] NM_000069 CACNA1S EXON Missense_G384E exm136457 1 201054602 [A/G] NM_000069 CACNA1S EXON Missense_T371M exm136465 1 201058386 [T/C] NM_000069 CACNA1S EXON Nonsense_W300X exm136467 1 201058391 [A/G] NM_000069 CACNA1S EXON Missense_Y299H exm136477 1 201058513 [T/C] NM_000069 CACNA1S EXON Missense_G258D exm136494 1 201061111 [A/G] NM_000069 CACNA1S EXON Missense_S177L exm136497 1 201061160 [T/C] NM_000069 CACNA1S EXON Missense_V161I exm136501 1 201063025 [G/C] NM_000069 CACNA1S EXON Missense_T128S exm136509 1 201063146 [T/C] NM_000069 CACNA1S EXON Missense_K88E exm136514 1 201079344 [C/G] NM_000069 CACNA1S EXON Missense_A69G exm2264943 1 201100482 [A/G] exm136557 1 201163290 [T/C] NM_001164586 IGFN1 EXON Missense_R6W exm136560 1 201163305 [A/C] NM_001164586 IGFN1 EXON Missense_P11T exm136561 1 201163306 [G/C] NM_001164586 IGFN1 EXON Missense_P11R exm136571 1 201166383 [A/G] NM_001164586 IGFN1 EXON Missense_R102H exm136595 1 201172932 [T/C] NM_001164586 IGFN1 EXON Missense_R272C exm136604 1 201174312 [C/G] NM_001164586 IGFN1 EXON Missense_A340G exm136614 1 201175227 [A/C] NM_001164586 IGFN1 EXON Missense_D402E exm136617 1 201175274 [A/G] NM_001164586 IGFN1 EXON Missense_Q418R exm136625 1 201175648 [C/G] NM_001164586 IGFN1 EXON Missense_R543G exm136627 1 201175658 [A/G] NM_001164586 IGFN1 EXON Missense_D546G exm136628 1 201175715 [T/G] NM_001164586 IGFN1 EXON Missense_R565L exm136629 1 201175768 [G/C] NM_001164586 IGFN1 EXON Missense_D583H exm136639 1 201176108 [A/G] NM_001164586 IGFN1 EXON Missense_G696D exm136641 1 201176303 [A/G] NM_001164586 IGFN1 EXON Missense_R761Q exm136645 1 201176558 [A/G] NM_001164586 IGFN1 EXON Missense_S846N exm136649 1 201176651 [T/C] NM_001164586 IGFN1 EXON Missense_T877M exm136651 1 201176711 [T/G] NM_001164586 IGFN1 EXON Missense_G897V exm136654 1 201176887 [A/G] NM_001164586 IGFN1 EXON Missense_E956K exm2232215 1 201176942 [T/G] NM_001164586 IGFN1 EXON Missense_S974I exm136655 1 201176968 [A/G] NM_001164586 IGFN1 EXON Missense_M983V exm2250475 1 201177210 [A/G] NM_001164586 IGFN1 EXON Synonymous_A1063A exm136661 1 201177415 [A/G] NM_001164586 IGFN1 EXON Missense_A1132T exm136665 1 201177475 [A/G] NM_001164586 IGFN1 EXON Missense_G1152R exm136669 1 201177611 [C/G] NM_001164586 IGFN1 EXON Missense_G1197A exm136673 1 201177703 [A/G] NM_001164586 IGFN1 EXON Missense_V1228I exm2232220 1 201178658 [A/C] NM_001164586 IGFN1 EXON Missense_A1546E exm136762 1 201180001 [A/G] NM_001164586 IGFN1 EXON Missense_D1994N exm136765 1 201180032 [T/C] NM_001164586 IGFN1 EXON Missense_A2004V exm136768 1 201180064 [A/G] NM_001164586 IGFN1 EXON Missense_G2015S exm136798 1 201180820 [A/G] NM_001164586 IGFN1 EXON Missense_D2267N exm136804 1 201181070 [T/C] NM_001164586 IGFN1 EXON Missense_T2350M exm136808 1 201181217 [A/G] NM_001164586 IGFN1 EXON Missense_D2399G exm136809 1 201181223 [A/G] NM_001164586 IGFN1 EXON Missense_N2401S exm136815 1 201181447 [T/C] NM_001164586 IGFN1 EXON Missense_P2476S exm136823 1 201181957 [A/G] NM_001164586 IGFN1 EXON Missense_A2646T exm136824 1 201181973 [T/C] NM_001164586 IGFN1 EXON Missense_S2651F exm136826 1 201181994 [A/G] NM_001164586 IGFN1 EXON Missense_D2658G exm136840 1 201182386 [T/C] NM_001164586 IGFN1 EXON Nonsense_Q2789X exm1746077 1 201182440 [A/G] NM_001164586 IGFN1 EXON Missense_R2807G exm136850 1 201182693 [A/G] NM_001164586 IGFN1 EXON Missense_R2891Q exm136859 1 201183364 [A/G] NM_001164586 IGFN1 EXON Missense_A2930T exm136863 1 201183424 [A/G] NM_001164586 IGFN1 EXON Missense_V2950I exm136868 1 201184166 [T/G] NM_001164586 IGFN1 EXON Missense_F2960C exm136869 1 201184195 [T/G] NM_001164586 IGFN1 EXON Missense_F2970V exm136875 1 201184670 [T/C] NM_001164586 IGFN1 EXON Missense_S3000F exm136890 1 201184878 [A/C] NM_001164586 IGFN1 EXON Missense_S3069R exm136893 1 201184906 [A/C] NM_001164586 IGFN1 EXON Missense_S3079R exm136903 1 201185647 [T/C] NM_001164586 IGFN1 EXON Missense_R3121C exm136911 1 201185743 [A/G] NM_001164586 IGFN1 EXON Missense_E3153K exm136914 1 201185752 [A/G] NM_001164586 IGFN1 EXON Missense_A3156T exm136920 1 201185842 [A/G] NM_001164586 IGFN1 EXON Missense_E3186K exm2232235 1 201185862 [G/C] NM_001164586 IGFN1 EXON Missense_E3192D exm136921 1 201185881 [A/G] NM_001164586 IGFN1 EXON Missense_A3199T exm136927 1 201186493 [A/G] NM_001164586 IGFN1 EXON Missense_R3225Q exm136928 1 201186501 [A/G] NM_001164586 IGFN1 EXON Missense_G3228S exm136939 1 201187681 [G/C] NM_001164586 IGFN1 EXON Missense_V3265L exm2265073 1 201188328 [A/G] NM_001164586 IGFN1 Silent exm136950 1 201190614 [T/C] NM_001164586 IGFN1 EXON Missense_S3314L exm136960 1 201190797 [A/G] NM_001164586 IGFN1 EXON Missense_R3375Q exm136962 1 201190827 [A/G] NM_001164586 IGFN1 EXON Missense_S3385N exm136969 1 201191929 [A/G] NM_001164586 IGFN1 EXON Missense_T3422A exm136970 1 201191944 [A/G] NM_001164586 IGFN1 EXON Missense_V3427I exm136974 1 201193849 [T/C] NM_001164586 IGFN1 EXON Missense_P3445S exm136976 1 201193885 [A/G] NM_001164586 IGFN1 EXON Missense_G3457S exm136984 1 201195003 [T/C] NM_001164586 IGFN1 EXON Missense_T3513M exm136988 1 201195014 [A/G] NM_001164586 IGFN1 EXON Missense_E3517K exm137005 1 201195146 [A/G] NM_001164586 IGFN1 EXON Missense_I3561V exm137020 1 201196066 [T/C] NM_001164586 IGFN1 EXON Missense_R3615W exm137035 1 201196177 [T/C] NM_001164586 IGFN1 EXON Missense_R3652C exm137038 1 201196198 [A/G] NM_001164586 IGFN1 EXON Missense_A3659T exm137044 1 201196322 [A/C] NM_001164586 IGFN1 EXON Missense_T3700N exm137054 1 201252984 [A/C] NM_001005337,NM_000299 PKP1,PKP1 EXON Missense_Q52K,Missense_Q52K exm-rs860554 1 201262432 [T/C] NM_001005337,NM_000299 PKP1,PKP1 Silent,Silent exm137058 1 201263108 [A/G] NM_001005337,NM_000299 PKP1,PKP1 EXON Missense_G81R,Missense_G81R exm137060 1 201263130 [A/G] NM_001005337,NM_000299 PKP1,PKP1 EXON Missense_Y88C,Missense_Y88C exm137064 1 201263173 [A/G] NM_001005337,NM_000299 PKP1,PKP1 EXON Synonymous_P102P,Synonymous_P102P exm137069 1 201282334 [A/G] NM_001005337,NM_000299 PKP1,PKP1 EXON Missense_R116H,Missense_R116H exm137073 1 201282405 [A/G] NM_001005337,NM_000299 PKP1,PKP1 EXON Missense_A140T,Missense_A140T exm137076 1 201282447 [T/C] NM_001005337,NM_000299 PKP1,PKP1 EXON Missense_R154C,Missense_R154C exm137077 1 201282469 [A/G] NM_001005337,NM_000299 PKP1,PKP1 EXON Missense_C161Y,Missense_C161Y exm137078 1 201282478 [A/G] NM_001005337,NM_000299 PKP1,PKP1 EXON Missense_R164Q,Missense_R164Q exm137081 1 201282531 [A/C] NM_001005337,NM_000299 PKP1,PKP1 EXON Missense_N182H,Missense_N182H exm137082 1 201282573 [A/G] NM_001005337,NM_000299 PKP1,PKP1 EXON Missense_I196V,Missense_I196V exm137085 1 201282592 [A/G] NM_001005337,NM_000299 PKP1,PKP1 EXON Missense_R202H,Missense_R202H exm137112 1 201287793 [A/G] NM_001005337,NM_000299 PKP1,PKP1 EXON Missense_I368V,Missense_I368V exm137115 1 201287820 [A/G] NM_001005337,NM_000299 PKP1,PKP1 EXON Missense_D377N,Missense_D377N exm137118 1 201287853 [A/G] NM_001005337,NM_000299 PKP1,PKP1 EXON Missense_D388N,Missense_D388N exm137123 1 201288955 [A/G] NM_001005337,NM_000299 PKP1,PKP1 EXON Silent,Missense_G415D exm137125 1 201288982 [A/C] NM_001005337,NM_000299 PKP1,PKP1 EXON Silent,Missense_P424Q exm137131 1 201289411 [A/G] NM_001005337,NM_000299 PKP1,PKP1 EXON Missense_D417N,Missense_D438N exm137136 1 201289495 [T/C] NM_001005337,NM_000299 PKP1,PKP1 EXON Missense_R445C,Missense_R466C exm137138 1 201289498 [T/C] NM_001005337,NM_000299 PKP1,PKP1 EXON Missense_C446R,Missense_C467R exm137149 1 201291196 [A/G] NM_001005337,NM_000299 PKP1,PKP1 EXON Missense_A480T,Missense_A501T exm2232237 1 201291197 [T/C] NM_001005337,NM_000299 PKP1,PKP1 EXON Missense_A480V,Missense_A501V exm137151 1 201291209 [A/G] NM_001005337,NM_000299 PKP1,PKP1 EXON Missense_Y484C,Missense_Y505C exm137159 1 201292195 [A/G] NM_001005337,NM_000299 PKP1,PKP1 EXON Missense_G520S,Missense_G541S exm137160 1 201292223 [A/G] NM_001005337,NM_000299 PKP1,PKP1 EXON Missense_R529H,Missense_R550H exm137164 1 201293617 [A/G] NM_001005337,NM_000299 PKP1,PKP1 EXON Missense_R581H,Missense_R602H exm137177 1 201294129 [A/C] NM_001005337,NM_000299 PKP1,PKP1 EXON Missense_N632T,Missense_N653T exm137183 1 201294893 [A/T] NM_001005337,NM_000299 PKP1,PKP1 EXON Missense_K678M,Missense_K699M exm137184 1 201294910 [T/C] NM_001005337,NM_000299 PKP1,PKP1 EXON Missense_R684W,Missense_R705W exm2273345 1 201299263 [A/G] NM_001005337,NM_000299 PKP1,PKP1 EXON Silent,Silent exm137198 1 201328373 [A/G] NM_001001430,NM_000364,NM_001276345,NM_001001432,NM_001276347,NM_001276346,NM_001001431 TNNT2,TNNT2,TNNT2,TNNT2,TNNT2,TNNT2,TNNT2 EXON Missense_R278C,Missense_R285C,Missense_R288C,Missense_R272C,Missense_R278C,Missense_R245C,Missense_R275C exm137208 1 201330429 [T/C] NM_001001430,NM_000364,NM_001276345,NM_001001432,NM_001276347,NM_001276346,NM_001001431 TNNT2,TNNT2,TNNT2,TNNT2,TNNT2,TNNT2,TNNT2 EXON Missense_K253R,Missense_K260R,Missense_K263R,Missense_K247R,Missense_K253R,Missense_K220R,Missense_K250R exm137211 1 201330455 [A/C] NM_001001430,NM_000364,NM_001276345,NM_001001432,NM_001276347,NM_001276346,NM_001001431 TNNT2,TNNT2,TNNT2,TNNT2,TNNT2,TNNT2,TNNT2 EXON Missense_E244D,Missense_E251D,Missense_E254D,Missense_E238D,Missense_E244D,Missense_E211D,Missense_E241D exm137215 1 201331068 [A/G] NM_001001430,NM_000364,NM_001276345,NM_001001432,NM_001276347,NM_001276346,NM_001001431 TNNT2,TNNT2,TNNT2,TNNT2,TNNT2,TNNT2,TNNT2 EXON Missense_I221T,Missense_I228T,Missense_I231T,Missense_I215T,Missense_I221T,Missense_I188T,Missense_I218T exm137216 1 201331147 [T/C] NM_001001430,NM_000364,NM_001276345,NM_001001432,NM_001276347,NM_001276346,NM_001001431 TNNT2,TNNT2,TNNT2,TNNT2,TNNT2,TNNT2,TNNT2 EXON Missense_E195K,Missense_E202K,Missense_E205K,Missense_E189K,Missense_E195K,Missense_E162K,Missense_E192K exm137240 1 201335991 [T/C] NM_001001430,NM_000364,NM_001276345,NM_001001432,NM_001276347,NM_001276346,NM_001001431 TNNT2,TNNT2,TNNT2,TNNT2,TNNT2,TNNT2,TNNT2 EXON Missense_M60V,Missense_M70V,Missense_M70V,Missense_M55V,Missense_M60V,Missense_M69V,Missense_M60V exm137246 1 201337340 [A/G] NM_001001430,NM_000364,NM_001276345,NM_001001432,NM_001276347,NM_001276346,NM_001001431 TNNT2,TNNT2,TNNT2,TNNT2,TNNT2,TNNT2,TNNT2 EXON Missense_A28V,Missense_A38V,Missense_A38V,Missense_A23V,Missense_A28V,Missense_A38V,Missense_A28V exm137286 1 201351385 [T/C] NM_005558 LAD1 EXON Missense_A515T exm137287 1 201351421 [A/T] NM_005558 LAD1 EXON Missense_T503S exm137288 1 201351423 [A/C] NM_005558 LAD1 EXON Missense_R502M exm137289 1 201351433 [T/C] NM_005558 LAD1 EXON Missense_A499T exm1746205 1 201351787 [T/G] NM_005558 LAD1 EXON Missense_D489E exm137291 1 201352206 [T/C] NM_005558 LAD1 EXON Missense_R461Q exm1746209 1 201352291 [T/C] NM_005558 LAD1 EXON Missense_V433M exm137305 1 201353941 [A/G] NM_005558 LAD1 EXON Missense_S385L exm137311 1 201354891 [A/G] NM_005558 LAD1 EXON Missense_P357S exm137317 1 201355522 [T/C] NM_005558 LAD1 EXON Missense_K323E exm137318 1 201355556 [A/C] NM_005558 LAD1 EXON Missense_R311S exm137323 1 201355636 [T/C] NM_005558 LAD1 EXON Missense_T285A exm137325 1 201355653 [T/G] NM_005558 LAD1 EXON Missense_P279Q exm137326 1 201355669 [T/C] NM_005558 LAD1 EXON Missense_T274A exm137330 1 201355761 [A/G] NM_005558 LAD1 EXON Missense_L243P exm137346 1 201355995 [T/C] NM_005558 LAD1 EXON Missense_E165G exm137355 1 201356006 [A/C] NM_005558 LAD1 EXON Missense_L161F exm137376 1 201356059 [A/G] NM_005558 LAD1 EXON Missense_R144W exm137387 1 201356298 [T/C] NM_005558 LAD1 EXON Missense_S64N exm137388 1 201356301 [A/G] NM_005558 LAD1 EXON Missense_P63L exm137390 1 201358304 [A/C] NM_005558 LAD1 EXON Missense_A56S exm2232238 1 201358367 [A/G] NM_005558 LAD1 EXON Missense_R35C exm137423 1 201382228 [T/C] NM_003281 TNNI1 EXON Missense_A71T exm137435 1 201383725 [T/C] NM_003281 TNNI1 EXON Missense_R37H exm2250477 1 201386916 [T/C] NM_003281 TNNI1 EXON Synonymous_P2P exm137458 1 201437557 [A/G] NR_073080,NM_012396 PHLDA3,PHLDA3 EXON Silent,Missense_L120F exm1746274 1 201437568 [A/G] NR_073080,NM_012396 PHLDA3,PHLDA3 EXON Silent,Missense_A116V exm137465 1 201437730 [T/C] NR_073080,NM_012396 PHLDA3,PHLDA3 EXON Silent,Missense_E62G exm137466 1 201437737 [A/C] NR_073080,NM_012396 PHLDA3,PHLDA3 EXON Silent,Missense_A60S exm137470 1 201437832 [T/C] NR_073080,NM_012396 PHLDA3,PHLDA3 EXON Silent,Missense_R28Q exm137476 1 201453861 [A/C] NM_004078,NM_001193570,NM_001193572,NM_001193571 CSRP1,CSRP1,CSRP1,CSRP1 EXON Missense_A188S,Missense_A182S,Missense_A188S,Missense_A188S exm137490 1 201458062 [A/T] NM_004078,NM_001193570,NM_001193572,NM_001193571 CSRP1,CSRP1,CSRP1,CSRP1 EXON Missense_Q111L,Missense_Q111L,Missense_Q111L,Missense_Q111L exm137491 1 201458071 [A/T] NM_004078,NM_001193570,NM_001193572,NM_001193571 CSRP1,CSRP1,CSRP1,CSRP1 EXON Missense_K108I,Missense_K108I,Missense_K108I,Missense_K108I exm137512 1 201465350 [T/C] NM_004078,NM_001193570,NM_001193572,NM_001193571 CSRP1,CSRP1,CSRP1,CSRP1 EXON Missense_N28D,Missense_N28D,Missense_N28D,Missense_N28D exm-rs10800786 1 201480660 [A/G] exm137528 1 201618040 [A/G] NM_020443 NAV1 EXON Missense_A82T exm137545 1 201618395 [A/G] NM_020443 NAV1 EXON Missense_D200G exm137552 1 201618546 [G/C] NM_020443 NAV1 EXON Missense_Q250H exm137583 1 201750162 [A/G] NM_020443,NM_001167738,NR_046945 NAV1,NAV1,RNU6-79 EXON Missense_R463H,Missense_R72H,Silent exm137585 1 201750233 [A/G] NM_020443,NM_001167738,NR_046945 NAV1,NAV1,RNU6-79 EXON Missense_D487N,Missense_D96N,Silent exm137586 1 201750237 [A/G] NM_020443,NM_001167738,NR_046945 NAV1,NAV1,RNU6-79 EXON Missense_S488N,Missense_S97N,Silent exm2250479 1 201751518 [G/C] NM_020443,NM_001167738,NR_046945 NAV1,NAV1,RNU6-79 EXON Synonymous_A626A,Synonymous_A235A,Silent exm137612 1 201751772 [T/C] NM_020443,NM_001167738,NR_046945 NAV1,NAV1,RNU6-79 EXON Missense_T711M,Missense_T320M,Silent exm137632 1 201752932 [T/C] NM_020443,NM_001167738,NR_046945 NAV1,NAV1,RNU6-79 EXON Missense_T919M,Missense_T528M,Silent exm137639 1 201754444 [C/G] NM_020443,NM_001167738,NR_046945 NAV1,NAV1,RNU6-79 EXON Missense_Q937H,Missense_Q546H,Silent exm137645 1 201755636 [A/C] NM_020443,NM_001167738,NR_046945 NAV1,NAV1,RNU6-79 EXON Missense_Q976K,Missense_Q585K,Silent exm137647 1 201755657 [A/C] NM_020443,NM_001167738,NR_046945 NAV1,NAV1,RNU6-79 EXON Missense_P983T,Missense_P592T,Silent exm137654 1 201757758 [T/C] NM_020443,NM_001167738,NR_046945 NAV1,NAV1,RNU6-79 EXON Missense_T1053M,Missense_T662M,Silent exm137658 1 201759701 [A/C] NM_020443,NM_001167738,NR_046945 NAV1,NAV1,RNU6-79 EXON Missense_S1080Y,Missense_S689Y,Silent exm2264944 1 201775746 [A/G] NM_020443,NM_001167738 NAV1,NAV1 Silent,Silent exm137678 1 201777136 [T/C] NM_020443,NM_001167738 NAV1,NAV1 EXON Missense_S1235F,Missense_S841F exm137682 1 201777250 [T/C] NM_020443,NM_001167738 NAV1,NAV1 EXON Missense_S1273L,Missense_S879L exm137684 1 201777553 [A/G] NM_020443,NM_001167738 NAV1,NAV1 EXON Missense_A1285T,Missense_A891T exm1746322 1 201777556 [A/C] NM_020443,NM_001167738 NAV1,NAV1 EXON Missense_H1286N,Missense_H892N exm137685 1 201777568 [G/C] NM_020443,NM_001167738 NAV1,NAV1 EXON Missense_H1290D,Missense_H896D exm137709 1 201778370 [T/C] NM_020443,NM_001167738 NAV1,NAV1 EXON Missense_P1429L,Missense_P1035L exm137710 1 201778384 [A/C] NM_020443,NM_001167738 NAV1,NAV1 EXON Missense_K1434Q,Missense_K1040Q exm137718 1 201779131 [T/C] NM_020443,NM_001167738 NAV1,NAV1 EXON Missense_H1487Y,Missense_H1093Y exm137726 1 201779668 [A/G] NM_020443,NM_001167738 NAV1,NAV1 EXON Missense_V1527I,Missense_V1133I exm137740 1 201780786 [T/C] NM_020443,NM_001167738 NAV1,NAV1 EXON Missense_I1618T,Missense_I1224T exm137750 1 201786220 [A/G] NM_020443,NM_001167738 NAV1,NAV1 EXON Missense_H1782R,Missense_H1388R exm137754 1 201786330 [A/G] NM_020443,NM_001167738 NAV1,NAV1 EXON Missense_V1819M,Missense_V1425M exm137756 1 201786413 [C/G] NM_020443,NM_001167738 NAV1,NAV1 EXON Synonymous_L1846L,Synonymous_L1452L exm137791 1 201824937 [A/G] NM_018085 IPO9 EXON Missense_V333I exm137798 1 201827623 [C/G] NM_018085 IPO9 EXON Missense_A424P exm1746379 1 201839932 [T/G] NM_018085 IPO9 EXON Missense_I785M exm137844 1 201843378 [A/G] NM_018085 IPO9 EXON Missense_N904S exm137851 1 201843969 [A/G] NM_018085 IPO9 EXON Missense_N948S exm137868 1 201858713 [A/G] NR_030775,NM_198149 SHISA4,SHISA4 EXON Silent,Missense_E72K exm137881 1 201860626 [A/G] NR_030775,NM_198149 SHISA4,SHISA4 EXON Silent,Missense_I159M exm137882 1 201860633 [T/C] NR_030775,NM_198149 SHISA4,SHISA4 EXON Silent,Missense_P162S exm137883 1 201860679 [T/C] NR_030775,NM_198149 SHISA4,SHISA4 EXON Silent,Missense_P177L exm137886 1 201860930 [T/C] NR_030775,NM_198149 SHISA4,SHISA4 EXON Silent,Missense_P184S exm2273346 1 201861016 [G/C] NR_030775,NM_198149 SHISA4,SHISA4 EXON Silent,Silent exm137892 1 201868510 [T/G] NM_012134 LMOD1 EXON Missense_P544H exm2232248 1 201868555 [T/C] NM_012134 LMOD1 EXON Missense_G529D exm137899 1 201868637 [T/C] NM_012134 LMOD1 EXON Missense_G502R exm2250480 1 201868842 [C/G] NM_012134 LMOD1 EXON Synonymous_T433T exm137905 1 201869027 [T/C] NM_012134 LMOD1 EXON Missense_D372N exm137916 1 201869257 [A/G] NM_012134 LMOD1 EXON Missense_T295M exm137922 1 201869413 [T/C] NM_012134 LMOD1 EXON Missense_G243D exm137923 1 201869461 [T/C] NM_012134 LMOD1 EXON Missense_R227H exm137924 1 201869484 [A/C] NM_012134 LMOD1 EXON Missense_D219E exm137925 1 201869489 [T/C] NM_012134 LMOD1 EXON Missense_E218K exm137934 1 201869716 [T/C] NM_012134 LMOD1 EXON Missense_G142D exm137942 1 201915259 [C/G] NM_012134 LMOD1 EXON Missense_N70K exm137945 1 201915294 [A/G] NM_012134 LMOD1 EXON Missense_S59P exm137947 1 201915330 [A/C] NM_012134 LMOD1 EXON Missense_V47L exm137949 1 201915336 [T/C] NM_012134 LMOD1 EXON Missense_V45I exm137966 1 201926422 [A/G] NM_006335 TIMM17A EXON Missense_V14M exm137983 1 201934578 [A/G] NM_006335 TIMM17A EXON Missense_V113I exm137985 1 201934590 [A/G] NM_006335 TIMM17A EXON Missense_A117T exm137989 1 201938669 [A/G] NM_006335 TIMM17A EXON Missense_R168Q exm138002 1 201958031 [C/G] NM_020216 RNPEP Silent exm138012 1 201958607 [T/C] NM_020216 RNPEP EXON Missense_Y229H exm138018 1 201965317 [T/G] NM_020216 RNPEP EXON Missense_K260N exm138022 1 201965336 [A/G] NM_020216 RNPEP EXON Missense_I267V exm138024 1 201965367 [T/C] NM_020216 RNPEP EXON Missense_L277P exm138030 1 201966541 [T/C] NM_020216 RNPEP EXON Missense_R317C exm138031 1 201966542 [A/G] NM_020216 RNPEP EXON Missense_R317H exm138033 1 201966638 [T/G] NM_020216 RNPEP EXON Missense_G349V exm138035 1 201966652 [A/G] NM_020216 RNPEP EXON Missense_A354T exm138048 1 201970505 [T/C] NM_020216 RNPEP EXON Synonymous_G402G exm138051 1 201970542 [A/G] NM_020216 RNPEP EXON Missense_E415K exm138055 1 201970787 [C/G] NM_020216 RNPEP EXON Missense_A440P exm138057 1 201970817 [A/G] NM_020216 RNPEP EXON Missense_I450V exm138066 1 201972448 [C/G] NM_020216 RNPEP EXON Missense_P504A exm138067 1 201972494 [T/C] NM_020216 RNPEP EXON Missense_M519T exm138075 1 201973565 [A/G] NM_020216 RNPEP EXON Missense_V579I exm138088 1 201980277 [T/C] NM_004433,NM_001114309 ELF3,ELF3 EXON Missense_C5R,Missense_C5R exm138099 1 201981129 [A/G] NM_004433,NM_001114309 ELF3,ELF3 EXON Missense_T70A,Missense_T70A exm138100 1 201981130 [T/C] NM_004433,NM_001114309 ELF3,ELF3 EXON Missense_T70M,Missense_T70M exm138103 1 201981189 [A/G] NM_004433,NM_001114309 ELF3,ELF3 EXON Missense_I90V,Missense_I90V exm138110 1 201981298 [A/G] NM_004433,NM_001114309 ELF3,ELF3 EXON Missense_R126Q,Missense_R126Q exm138115 1 201981472 [T/C] NM_004433,NM_001114309 ELF3,ELF3 EXON Missense_T129I,Missense_T129I exm138120 1 201981774 [A/G] NM_004433,NM_001114309 ELF3,ELF3 EXON Missense_G162D,Missense_G162D exm138128 1 201981848 [A/G] NM_004433,NM_001114309 ELF3,ELF3 EXON Missense_G187R,Missense_G187R exm138137 1 201982163 [T/C] NM_004433,NM_001114309 ELF3,ELF3 EXON Synonymous_S229S,Synonymous_S229S exm138149 1 201982958 [A/G] NM_004433,NM_001114309 ELF3,ELF3 EXON Synonymous_A269A,Synonymous_A269A exm138151 1 201983055 [A/G] NM_004433,NM_001114309 ELF3,ELF3 EXON Missense_V302I,Missense_V302I exm2268814 1 202034271 [T/C] exm2263868 1 202081212 [A/C] exm138176 1 202092293 [T/C] NM_004767 GPR37L1 EXON Missense_P68S exm138181 1 202092360 [A/G] NM_004767 GPR37L1 EXON Missense_G90D exm138195 1 202092674 [G/C] NM_004767 GPR37L1 EXON Missense_Q195E exm138214 1 202097239 [A/G] NM_004767 GPR37L1 EXON Missense_R334Q exm138242 1 202097559 [A/G] NM_004767 GPR37L1 EXON Missense_G441R exm138243 1 202097580 [A/G] NM_004767 GPR37L1 EXON Missense_A448T exm2250482 1 202104282 [A/G] NM_001256129,NM_138795 ARL8A,ARL8A EXON Missense_H147Y,Synonymous_N169N exm1746520 1 202119482 [T/C] NR_037664,NM_002832,NM_001199797,NR_037663,NM_080588 PTPN7,PTPN7,PTPN7,PTPN7,PTPN7 EXON Silent,Missense_E421K,Missense_E390K,Silent,Missense_E355K exm138278 1 202119514 [T/C] NR_037664,NM_002832,NM_001199797,NR_037663,NM_080588 PTPN7,PTPN7,PTPN7,PTPN7,PTPN7 EXON Silent,Missense_R410Q,Missense_R379Q,Silent,Missense_R344Q exm138279 1 202119515 [A/G] NR_037664,NM_002832,NM_001199797,NR_037663,NM_080588 PTPN7,PTPN7,PTPN7,PTPN7,PTPN7 EXON Silent,Nonsense_R410X,Nonsense_R379X,Silent,Nonsense_R344X exm138286 1 202121683 [T/C] NR_037664,NM_002832,NM_001199797,NR_037663,NM_080588 PTPN7,PTPN7,PTPN7,PTPN7,PTPN7 EXON Silent,Missense_V393I,Missense_V362I,Silent,Missense_V327I exm138293 1 202121815 [A/G] NR_037664,NM_002832,NM_001199797,NR_037663,NM_080588 PTPN7,PTPN7,PTPN7,PTPN7,PTPN7 EXON Silent,Missense_R349C,Missense_R318C,Silent,Missense_R283C exm138299 1 202122865 [G/C] NR_037664,NM_002832,NM_001199797,NR_037663,NM_080588 PTPN7,PTPN7,PTPN7,PTPN7,PTPN7 EXON Silent,Missense_Q340H,Missense_Q309H,Silent,Missense_Q274H exm138302 1 202122956 [A/C] NR_037664,NM_002832,NM_001199797,NR_037663,NM_080588 PTPN7,PTPN7,PTPN7,PTPN7,PTPN7 EXON Silent,Missense_V310G,Missense_V279G,Silent,Missense_V244G exm138309 1 202124711 [A/G] NR_037664,NM_002832,NM_001199797,NR_037663,NM_080588 PTPN7,PTPN7,PTPN7,PTPN7,PTPN7 EXON Silent,Missense_R245W,Missense_R214W,Silent,Missense_R179W exm138313 1 202126900 [T/C] NR_037664,NM_002832,NM_001199797,NR_037663,NM_080588 PTPN7,PTPN7,PTPN7,PTPN7,PTPN7 EXON Silent,Missense_A225T,Missense_A194T,Silent,Missense_A159T exm138317 1 202127295 [A/G] NR_037664,NM_002832,NM_001199797,NR_037663,NM_080588 PTPN7,PTPN7,PTPN7,PTPN7,PTPN7 EXON Silent,Missense_A191V,Missense_A160V,Silent,Missense_A125V exm138325 1 202128421 [T/C] NR_037664,NM_002832,NM_001199797,NR_037663,NM_080588 PTPN7,PTPN7,PTPN7,PTPN7,PTPN7 EXON Silent,Missense_R142Q,Missense_R111Q,Silent,Missense_R76Q exm2276852 1 202128422 [A/G] NR_037664,NM_002832,NM_001199797,NR_037663,NM_080588 PTPN7,PTPN7,PTPN7,PTPN7,PTPN7 EXON Silent,Nonsense_R142X,Nonsense_R111X,Silent,Nonsense_R76X exm2273735 1 202128454 [A/G] NR_037664,NM_002832,NM_001199797,NR_037663,NM_080588 PTPN7,PTPN7,PTPN7,PTPN7,PTPN7 EXON Silent,Missense_P131L,Missense_P100L,Silent,Missense_P65L exm138333 1 202128508 [T/C] NR_037664,NM_002832,NM_001199797,NR_037663,NM_080588 PTPN7,PTPN7,PTPN7,PTPN7,PTPN7 EXON Silent,Missense_R113H,Missense_R82H,Silent,Missense_R47H exm138344 1 202128601 [T/C] NR_037664,NM_002832,NM_001199797,NR_037663,NM_080588 PTPN7,PTPN7,PTPN7,PTPN7,PTPN7 EXON Silent,Silent,Silent,Silent,Missense_R16Q exm138358 1 202129895 [A/G] NR_037664,NM_002832,NM_001199797,NR_037663 PTPN7,PTPN7,PTPN7,PTPN7 EXON Silent,Missense_T14M,Silent,Silent exm138386 1 202172988 [T/A] NM_001017403,NM_021636 LGR6,LGR6 EXON Silent,Missense_I14K exm-IND1-200449980 1 202183358 [D/I] NM_001017403,NM_021636,NM_001017404 LGR6,LGR6,LGR6 EXON exm2250483 1 202197082 [T/C] NM_001017403,NM_021636,NM_001017404 LGR6,LGR6,LGR6 EXON Synonymous_H101H,Synonymous_H49H,Synonymous_H58H exm138409 1 202205084 [A/G] NM_001017403,NM_021636,NM_001017404 LGR6,LGR6,LGR6 EXON Missense_A131T,Missense_A79T,Missense_A88T exm138420 1 202245498 [T/C] NM_001017403,NM_021636,NM_001017404 LGR6,LGR6,LGR6 EXON Missense_R165C,Missense_R113C,Silent exm138425 1 202245595 [A/G] NM_001017403,NM_021636,NM_001017404 LGR6,LGR6,LGR6 EXON Missense_R197H,Missense_R145H,Silent exm138426 1 202245609 [T/C] NM_001017403,NM_021636,NM_001017404 LGR6,LGR6,LGR6 EXON Missense_P202S,Missense_P150S,Silent exm1746588 1 202270005 [A/G] NM_001017403,NM_021636,NM_001017404 LGR6,LGR6,LGR6 EXON Missense_I272V,Missense_I220V,Missense_I133V exm138444 1 202272454 [A/G] NM_001017403,NM_021636,NM_001017404 LGR6,LGR6,LGR6 EXON Missense_G326D,Missense_G274D,Missense_G187D exm138450 1 202273729 [A/G] NM_001017403,NM_021636,NM_001017404 LGR6,LGR6,LGR6 EXON Missense_M347I,Missense_M295I,Missense_M208I exm138455 1 202276012 [T/C] NM_001017403,NM_021636,NM_001017404 LGR6,LGR6,LGR6 EXON Missense_R385C,Missense_R333C,Missense_R246C exm138457 1 202276045 [A/C] NM_001017403,NM_021636,NM_001017404 LGR6,LGR6,LGR6 EXON Missense_Q396K,Missense_Q344K,Missense_Q257K exm138478 1 202279464 [T/G] NM_001017403,NM_021636,NM_001017404 LGR6,LGR6,LGR6 EXON Missense_A516S,Missense_A464S,Missense_A377S exm138480 1 202279484 [T/C] NM_001017403,NM_021636,NM_001017404 LGR6,LGR6,LGR6 EXON Synonymous_H522H,Synonymous_H470H,Synonymous_H383H exm138484 1 202287118 [A/G] NM_001017403,NM_021636,NM_001017404 LGR6,LGR6,LGR6 EXON Missense_G563S,Missense_G511S,Missense_G424S exm138487 1 202287139 [A/G] NM_001017403,NM_021636,NM_001017404 LGR6,LGR6,LGR6 EXON Missense_A570T,Missense_A518T,Missense_A431T exm1746619 1 202287250 [A/G] NM_001017403,NM_021636,NM_001017404 LGR6,LGR6,LGR6 EXON Missense_A607T,Missense_A555T,Missense_A468T exm138504 1 202287358 [T/C] NM_001017403,NM_021636,NM_001017404 LGR6,LGR6,LGR6 EXON Missense_R643W,Missense_R591W,Missense_R504W exm2232259 1 202287634 [A/G] NM_001017403,NM_021636,NM_001017404 LGR6,LGR6,LGR6 EXON Missense_A735T,Missense_A683T,Missense_A596T exm138528 1 202287707 [T/C] NM_001017403,NM_021636,NM_001017404 LGR6,LGR6,LGR6 EXON Missense_P759L,Missense_P707L,Missense_P620L exm138533 1 202287739 [A/G] NM_001017403,NM_021636,NM_001017404 LGR6,LGR6,LGR6 EXON Missense_A770T,Missense_A718T,Missense_A631T exm138535 1 202287754 [A/G] NM_001017403,NM_021636,NM_001017404 LGR6,LGR6,LGR6 EXON Missense_V775M,Missense_V723M,Missense_V636M exm138539 1 202287818 [C/G] NM_001017403,NM_021636,NM_001017404 LGR6,LGR6,LGR6 EXON Missense_S796C,Missense_S744C,Missense_S657C exm138547 1 202287964 [A/G] NM_001017403,NM_021636,NM_001017404 LGR6,LGR6,LGR6 EXON Missense_A845T,Missense_A793T,Missense_A706T exm138553 1 202288000 [A/G] NM_001017403,NM_021636,NM_001017404 LGR6,LGR6,LGR6 EXON Missense_G857R,Missense_G805R,Missense_G718R exm138559 1 202288063 [C/G] NM_001017403,NM_021636,NM_001017404 LGR6,LGR6,LGR6 EXON Missense_L878V,Missense_L826V,Missense_L739V exm138560 1 202288090 [T/C] NM_001017403,NM_021636,NM_001017404 LGR6,LGR6,LGR6 EXON Missense_R887W,Missense_R835W,Missense_R748W exm138561 1 202288091 [A/G] NM_001017403,NM_021636,NM_001017404 LGR6,LGR6,LGR6 EXON Missense_R887Q,Missense_R835Q,Missense_R748Q exm138568 1 202288189 [A/C] NM_001017403,NM_021636,NM_001017404 LGR6,LGR6,LGR6 EXON Missense_P920T,Missense_P868T,Missense_P781T exm138574 1 202288294 [A/G] NM_001017403,NM_021636,NM_001017404 LGR6,LGR6,LGR6 EXON Missense_G955S,Missense_G903S,Missense_G816S exm138597 1 202304124 [G/C] NM_014176 UBE2T EXON Missense_P58A exm138601 1 202304777 [T/C] NM_014176 UBE2T EXON Missense_A36T exm138602 1 202304812 [T/C] NM_014176 UBE2T EXON Missense_C24Y exm138613 1 202318143 [A/G] NM_001167857,NM_002481,NM_001167858 PPP1R12B,PPP1R12B,PPP1R12B EXON Missense_R55H,Missense_R55H,Missense_R55H exm2232265 1 202385947 [T/G] NM_001167857,NM_002481,NM_001167858 PPP1R12B,PPP1R12B,PPP1R12B EXON Missense_K108N,Missense_K108N,Missense_K108N exm138625 1 202391786 [A/G] NM_001167857,NM_002481,NM_001167858 PPP1R12B,PPP1R12B,PPP1R12B EXON Missense_N154S,Missense_N154S,Missense_N154S exm138642 1 202398019 [A/G] NM_001167857,NM_002481,NM_001167858 PPP1R12B,PPP1R12B,PPP1R12B EXON Missense_V295M,Missense_V295M,Missense_V295M exm2277017 1 202399880 [T/C] NM_001167857,NM_002481,NM_001167858 PPP1R12B,PPP1R12B,PPP1R12B EXON Missense_R315W,Missense_R315W,Missense_R315W exm2250484 1 202403794 [A/G] NM_001167857,NM_002481,NM_001167858 PPP1R12B,PPP1R12B,PPP1R12B EXON Synonymous_P384P,Synonymous_P384P,Silent exm138651 1 202403808 [A/G] NM_001167857,NM_002481,NM_001167858 PPP1R12B,PPP1R12B,PPP1R12B EXON Missense_N389S,Missense_N389S,Silent exm138658 1 202403889 [T/C] NM_001167857,NM_002481,NM_001167858 PPP1R12B,PPP1R12B,PPP1R12B EXON Missense_A416V,Missense_A416V,Silent exm138661 1 202406951 [A/C] NM_001167857,NM_002481,NM_001167858 PPP1R12B,PPP1R12B,PPP1R12B EXON Missense_F419L,Missense_F419L,Missense_L382I exm138662 1 202406961 [G/C] NM_001167857,NM_002481,NM_001167858 PPP1R12B,PPP1R12B,PPP1R12B EXON Missense_L423V,Missense_L423V,Missense_P385R exm138666 1 202407076 [A/T] NM_001167857,NM_002481,NM_001167858 PPP1R12B,PPP1R12B,PPP1R12B EXON Missense_I461K,Missense_I461K,Silent exm138672 1 202409874 [A/G] NM_002481 PPP1R12B EXON Missense_R500Q exm138673 1 202409904 [A/G] NM_002481 PPP1R12B EXON Missense_E510G exm138680 1 202411679 [A/G] NM_002481 PPP1R12B EXON Missense_Y549C exm1746688 1 202418139 [A/G] NM_002481 PPP1R12B EXON Missense_D564N exm2232268 1 202418173 [A/C] NM_002481 PPP1R12B EXON Missense_S575Y exm138687 1 202457666 [A/G] NM_002481,NM_032104,NM_032103 PPP1R12B,PPP1R12B,PPP1R12B EXON Missense_Y619C,Silent,Silent exm138703 1 202464451 [T/C] NM_002481,NM_032104,NM_032103 PPP1R12B,PPP1R12B,PPP1R12B EXON Nonsense_Q726X,Silent,Silent exm138714 1 202464773 [A/G] NM_002481,NM_032104,NM_032103 PPP1R12B,PPP1R12B,PPP1R12B EXON Missense_R804Q,Missense_R30Q,Missense_R30Q exm138725 1 202509362 [T/C] NM_002481,NM_032104,NM_032103,NM_001197131 PPP1R12B,PPP1R12B,PPP1R12B,PPP1R12B EXON Silent,Silent,Silent,Missense_T32M exm138734 1 202531968 [A/G] NM_002481,NM_032104,NM_032103,NM_001197131 PPP1R12B,PPP1R12B,PPP1R12B,PPP1R12B EXON Missense_R857K,Missense_R83K,Missense_R83K,Missense_R61K exm138753 1 202538291 [A/T] NM_002481,NM_032104,NM_032103,NM_001197131 PPP1R12B,PPP1R12B,PPP1R12B,PPP1R12B EXON Missense_E943V,Missense_E169V,Missense_E169V,Missense_E147V exm138759 1 202544208 [T/C] NM_002481,NM_032104,NM_032103,NM_001197131 PPP1R12B,PPP1R12B,PPP1R12B,PPP1R12B EXON Silent,Nonsense_R207X,Silent,Silent exm138760 1 202544227 [T/C] NM_002481,NM_032104,NM_032103,NM_001197131 PPP1R12B,PPP1R12B,PPP1R12B,PPP1R12B EXON Silent,Missense_S213L,Silent,Silent exm138772 1 202568417 [T/C] NM_001136504,NM_177402 SYT2,SYT2 EXON Missense_V328M,Missense_V328M exm138802 1 202573729 [T/C] NM_001136504,NM_177402 SYT2,SYT2 EXON Missense_A67T,Missense_A67T exm138816 1 202698838 [T/A] NM_006618 KDM5B EXON Missense_D1498E exm138820 1 202698950 [T/C] NM_006618 KDM5B EXON Missense_R1461H exm138823 1 202698968 [T/C] NM_006618 KDM5B EXON Missense_R1455H exm138830 1 202700057 [T/C] NM_006618 KDM5B EXON Missense_V1386M exm138834 1 202700105 [A/C] NM_006618 KDM5B EXON Missense_L1370V exm138854 1 202702918 [T/C] NM_006618 KDM5B EXON Missense_V1174M exm138862 1 202704613 [G/C] NM_006618 KDM5B EXON Missense_E1123Q exm2250485 1 202705419 [T/C] NM_006618 KDM5B EXON Synonymous_L1062L exm138872 1 202709846 [G/C] NM_006618 KDM5B EXON Missense_V1014L exm1746799 1 202709895 [A/G] NM_006618 KDM5B EXON Synonymous_I997I exm138892 1 202710706 [T/C] NM_006618 KDM5B EXON Missense_I912V exm138893 1 202710733 [G/C] NM_006618 KDM5B EXON Missense_E903Q exm138900 1 202711593 [T/C] NM_006618 KDM5B EXON Missense_V839M exm138901 1 202711625 [T/G] NM_006618 KDM5B EXON Missense_S828Y exm138912 1 202714989 [T/C] NM_006618 KDM5B EXON Missense_K774E exm138919 1 202715270 [T/C] NM_006618 KDM5B EXON Missense_R733Q exm138920 1 202715271 [A/G] NM_006618 KDM5B EXON Missense_R733W exm138935 1 202719886 [T/A] NM_006618 KDM5B EXON Nonsense_C574X exm138942 1 202724559 [T/C] NM_006618 KDM5B EXON Missense_N460D exm138944 1 202725509 [T/C] NM_006618 KDM5B EXON Missense_I445V exm139058 1 202887337 [T/C] NM_021633 KLHL12 EXON Missense_G177R exm139068 1 202894165 [T/G] NM_021633 KLHL12 EXON Missense_K42N exm2250487 1 202911267 [C/G] NR_046083,NM_015999 ADIPOR1,ADIPOR1 EXON Silent,Synonymous_T295T exm139122 1 202932203 [A/G] NM_016243 CYB5R1 EXON Missense_P246S exm139125 1 202932269 [C/G] NM_016243 CYB5R1 EXON Missense_E224Q exm139129 1 202932838 [A/G] NM_016243 CYB5R1 EXON Nonsense_Q193X exm139135 1 202933768 [C/G] NM_016243 CYB5R1 EXON Missense_K177N exm1746907 1 202935878 [A/G] NM_016243 CYB5R1 EXON Missense_T55M exm139158 1 202935911 [T/C] NM_016243 CYB5R1 EXON Missense_N44S exm139162 1 202936023 [A/G] NM_016243 CYB5R1 EXON Missense_P7S exm139184 1 202984028 [A/G] NM_138391,NM_001079809 TMEM183A,TMEM183B EXON Missense_G127R,Missense_G127R exm139266 1 203020973 [T/C] NM_015053 PPFIA4 EXON Missense_R24C exm139294 1 203024756 [T/C] NM_015053 PPFIA4 EXON Missense_R170C exm1746969 1 203025635 [A/G] NM_015053 PPFIA4 EXON Missense_S241G exm139311 1 203029418 [T/C] NM_015053 PPFIA4 EXON Missense_A380V exm139330 1 203033131 [A/G] NM_015053 PPFIA4 EXON Missense_R511Q exm139337 1 203037646 [A/G] NM_015053 PPFIA4 EXON Missense_A566T exm139341 1 203040874 [T/C] NM_015053 PPFIA4 EXON Missense_R621W exm139365 1 203053787 [T/C] NM_002479 MYOG EXON Missense_A181T exm139374 1 203054651 [A/G] NM_002479 MYOG EXON Missense_R147C exm1747010 1 203054659 [T/C] NM_002479 MYOG EXON Missense_R144H exm139382 1 203054852 [T/C] NM_002479 MYOG EXON Missense_V80M exm139386 1 203054942 [C/G] NM_002479 MYOG EXON Missense_L50V exm139392 1 203054980 [T/C] NM_002479 MYOG EXON Missense_R37Q exm139393 1 203054984 [C/G] NM_002479 MYOG EXON Missense_E36Q exm139401 1 203098000 [T/G] NM_000674,NM_001048230 ADORA1,ADORA1 EXON Missense_A11S,Missense_A11S exm139405 1 203098085 [T/C] NM_000674,NM_001048230 ADORA1,ADORA1 EXON Missense_A39V,Missense_A39V exm139408 1 203098126 [A/G] NM_000674,NM_001048230 ADORA1,ADORA1 EXON Missense_V53M,Missense_V53M exm139429 1 203134669 [T/C] NM_000674,NM_001048230 ADORA1,ADORA1 EXON Missense_R208C,Missense_R208C exm139430 1 203134670 [A/G] NM_000674,NM_001048230 ADORA1,ADORA1 EXON Missense_R208H,Missense_R208H exm139431 1 203134682 [A/G] NM_000674,NM_001048230 ADORA1,ADORA1 EXON Missense_N212S,Missense_N212S exm139441 1 203135013 [C/G] NM_000674,NM_001048230 ADORA1,ADORA1 EXON Missense_E322D,Missense_E322D exm139450 1 203137795 [T/C] NM_004997 MYBPH EXON Missense_A476T exm139452 1 203138048 [T/C] NM_004997 MYBPH EXON Missense_R468Q exm139453 1 203138049 [A/G] NM_004997 MYBPH EXON Missense_R468W exm139481 1 203139556 [T/C] NM_004997 MYBPH EXON Missense_R319H exm139484 1 203140219 [C/G] NM_004997 MYBPH EXON Nonsense_Y301X exm2250488 1 203140228 [T/G] NM_004997 MYBPH EXON Synonymous_L298L exm139492 1 203140558 [T/C] NM_004997 MYBPH EXON Missense_R249H exm139494 1 203140586 [T/C] NM_004997 MYBPH EXON Missense_D240N exm139495 1 203140637 [A/G] NM_004997 MYBPH EXON Missense_R223C exm139496 1 203140648 [T/C] NM_004997 MYBPH EXON Missense_R219Q exm2250489 1 203140671 [A/G] NM_004997 MYBPH EXON Synonymous_N211N exm1747046 1 203141120 [A/C] NM_004997 MYBPH EXON Missense_R186L exm139512 1 203143668 [T/C] NM_004997 MYBPH EXON Missense_R133Q exm139513 1 203143698 [T/C] NM_004997 MYBPH EXON Missense_R123Q exm2250490 1 203143721 [T/C] NM_004997 MYBPH EXON Synonymous_S115S exm139521 1 203144500 [T/C] NM_004997 MYBPH EXON Missense_R99G exm139530 1 203144793 [T/C] NM_004997 MYBPH EXON Missense_G31R exm139535 1 203144874 [T/C] NM_004997 MYBPH EXON Missense_K4E exm139538 1 203148620 [G/C] NM_001276 CHI3L1 EXON Missense_R369G exm139542 1 203148674 [T/C] NM_001276 CHI3L1 EXON Missense_V351I exm139543 1 203148680 [T/C] NM_001276 CHI3L1 EXON Missense_A349T exm139546 1 203148698 [T/C] NM_001276 CHI3L1 EXON Missense_D343N exm139553 1 203148902 [A/C] NM_001276 CHI3L1 EXON Missense_S333I exm139559 1 203148963 [T/C] NM_001276 CHI3L1 EXON Missense_G313S exm139563 1 203149627 [A/T] NM_001276 CHI3L1 EXON Nonsense_K289X exm139572 1 203150330 [T/C] NM_001276 CHI3L1 EXON Missense_R224Q exm139574 1 203150364 [A/G] NM_001276 CHI3L1 EXON Missense_R213C exm139577 1 203150385 [A/G] NM_001276 CHI3L1 EXON Missense_Y206H exm139583 1 203151920 [T/C] NM_001276 CHI3L1 EXON Missense_A176T exm139587 1 203152801 [T/C] NM_001276 CHI3L1 EXON Missense_R145G exm139590 1 203152851 [T/C] NM_001276 CHI3L1 EXON Missense_R128H exm139593 1 203152860 [A/G] NM_001276 CHI3L1 EXON Missense_P125L exm139595 1 203152864 [G/C] NM_001276 CHI3L1 EXON Missense_P124A exm139599 1 203152911 [T/G] NM_001276 CHI3L1 EXON Missense_K108T exm139603 1 203154337 [T/C] NM_001276 CHI3L1 EXON Missense_G78S exm139604 1 203154356 [T/C] NM_001276 CHI3L1 EXON Nonsense_W71X exm139606 1 203154370 [T/C] NM_001276 CHI3L1 EXON Missense_D67N exm139607 1 203154379 [T/C] NM_001276 CHI3L1 EXON Missense_D64N exm139609 1 203154427 [A/G] NM_001276 CHI3L1 EXON Missense_R48C exm1747085 1 203154512 [A/G] NM_001276 CHI3L1 EXON Synonymous_C19C exm139621 1 203155729 [A/G] NM_001276 CHI3L1 EXON Missense_T8I exm139636 1 203186067 [A/G] NM_001256125,NR_045785,NR_045784,NM_001270509,NM_003465 CHIT1,CHIT1,CHIT1,CHIT1,CHIT1 EXON Missense_P432S,Silent,Silent,Missense_P406S,Missense_P451S exm139638 1 203186076 [A/G] NM_001256125,NR_045785,NR_045784,NM_001270509,NM_003465 CHIT1,CHIT1,CHIT1,CHIT1,CHIT1 EXON Nonsense_Q429X,Silent,Silent,Nonsense_Q403X,Nonsense_Q448X exm139639 1 203186093 [G/C] NM_001256125,NR_045785,NR_045784,NM_001270509,NM_003465 CHIT1,CHIT1,CHIT1,CHIT1,CHIT1 EXON Missense_A423G,Silent,Silent,Missense_A397G,Missense_A442G exm1747094 1 203186123 [T/C] NM_001256125,NR_045785,NR_045784,NM_001270509,NM_003465 CHIT1,CHIT1,CHIT1,CHIT1,CHIT1 EXON Missense_R413Q,Silent,Silent,Missense_R387Q,Missense_R432Q exm139642 1 203186153 [T/C] NM_001256125,NR_045785,NR_045784,NM_001270509,NM_003465 CHIT1,CHIT1,CHIT1,CHIT1,CHIT1 EXON Missense_G403D,Silent,Silent,Missense_G377D,Missense_G422D exm139648 1 203186878 [T/C] NM_001256125,NR_045785,NR_045784,NM_001270509,NM_003465 CHIT1,CHIT1,CHIT1,CHIT1,CHIT1 EXON Missense_R363Q,Silent,Silent,Missense_R337Q,Missense_R382Q exm139653 1 203186950 [T/C] NM_001256125,NR_045785,NR_045784,NM_001270509,NM_003465 CHIT1,CHIT1,CHIT1,CHIT1,CHIT1 EXON Nonsense_W339X,Silent,Silent,Silent,Nonsense_W358X exm139655 1 203186963 [T/C] NM_001256125,NR_045785,NR_045784,NM_001270509,NM_003465 CHIT1,CHIT1,CHIT1,CHIT1,CHIT1 EXON Missense_G335R,Silent,Silent,Silent,Missense_G354R exm139656 1 203186964 [A/G] NM_001256125,NR_045785,NR_045784,NM_001270509,NM_003465 CHIT1,CHIT1,CHIT1,CHIT1,CHIT1 EXON Synonymous_G334G,Silent,Silent,Silent,Synonymous_G353G exm2250491 1 203186964 [A/G] NM_001256125,NR_045785,NR_045784,NM_001270509,NM_003465 CHIT1,CHIT1,CHIT1,CHIT1,CHIT1 EXON Synonymous_G334G,Silent,Silent,Silent,Synonymous_G353G exm139659 1 203186979 [A/C] NM_001256125,NR_045785,NR_045784,NM_001270509,NM_003465 CHIT1,CHIT1,CHIT1,CHIT1,CHIT1 EXON Missense_K329N,Silent,Silent,Silent,Missense_K348N exm1747099 1 203186990 [T/C] NM_001256125,NR_045785,NR_045784,NM_001270509,NM_003465 CHIT1,CHIT1,CHIT1,CHIT1,CHIT1 EXON Missense_S326G,Silent,Silent,Silent,Missense_S345G exm139670 1 203188792 [T/C] NM_001256125,NR_045785,NR_045784,NM_001270509,NM_003465 CHIT1,CHIT1,CHIT1,CHIT1,CHIT1 EXON Synonymous_E286E,Silent,Silent,Synonymous_E289E,Synonymous_E305E exm139675 1 203188905 [T/C] NM_001256125,NR_045785,NR_045784,NM_001270509,NM_003465 CHIT1,CHIT1,CHIT1,CHIT1,CHIT1 EXON Missense_G249R,Silent,Silent,Missense_G252R,Missense_G268R exm2250492 1 203188948 [T/C] NM_001256125,NR_045785,NR_045784,NM_001270509,NM_003465 CHIT1,CHIT1,CHIT1,CHIT1,CHIT1 EXON Synonymous_K234K,Silent,Silent,Synonymous_K237K,Synonymous_K253K exm139686 1 203192267 [T/C] NM_001256125,NR_045785,NR_045784,NM_001270509,NM_003465 CHIT1,CHIT1,CHIT1,CHIT1,CHIT1 EXON Missense_A182T,Silent,Silent,Missense_A185T,Missense_A201T exm139689 1 203192355 [A/C] NM_001256125,NR_045785,NR_045784,NM_001270509,NM_003465 CHIT1,CHIT1,CHIT1,CHIT1,CHIT1 EXON Missense_Q152H,Silent,Silent,Missense_Q155H,Missense_Q171H exm1747115 1 203192360 [A/C] NM_001256125,NR_045785,NR_045784,NM_001270509,NM_003465 CHIT1,CHIT1,CHIT1,CHIT1,CHIT1 EXON Missense_A151S,Silent,Silent,Missense_A154S,Missense_A170S exm1747120 1 203192658 [A/C] NM_001256125,NR_045785,NR_045784,NM_001270509,NM_003465 CHIT1,CHIT1,CHIT1,CHIT1,CHIT1 EXON Missense_A130S,Silent,Silent,Missense_A149S,Missense_A149S exm139698 1 203192681 [T/G] NM_001256125,NR_045785,NR_045784,NM_001270509,NM_003465 CHIT1,CHIT1,CHIT1,CHIT1,CHIT1 EXON Missense_Y122S,Silent,Silent,Missense_Y141S,Missense_Y141S exm139707 1 203194175 [A/C] NM_001256125,NR_045785,NR_045784,NM_001270509,NM_003465 CHIT1,CHIT1,CHIT1,CHIT1,CHIT1 Silent,Silent,Silent,Silent,Silent exm139708 1 203194186 [T/C] NM_001256125,NR_045785,NR_045784,NM_001270509,NM_003465 CHIT1,CHIT1,CHIT1,CHIT1,CHIT1 EXON Silent,Silent,Silent,Missense_G102S,Missense_G102S exm139709 1 203194201 [T/C] NM_001256125,NR_045785,NR_045784,NM_001270509,NM_003465 CHIT1,CHIT1,CHIT1,CHIT1,CHIT1 EXON Silent,Silent,Silent,Missense_G97R,Missense_G97R exm139710 1 203194206 [A/G] NM_001256125,NR_045785,NR_045784,NM_001270509,NM_003465 CHIT1,CHIT1,CHIT1,CHIT1,CHIT1 EXON Silent,Silent,Silent,Missense_A95V,Missense_A95V exm139715 1 203194834 [T/C] NM_001256125,NR_045785,NR_045784,NM_001270509,NM_003465 CHIT1,CHIT1,CHIT1,CHIT1,CHIT1 EXON Missense_E74K,Silent,Silent,Missense_E74K,Missense_E74K exm139716 1 203194848 [A/G] NM_001256125,NR_045785,NR_045784,NM_001270509,NM_003465 CHIT1,CHIT1,CHIT1,CHIT1,CHIT1 EXON Missense_T69I,Silent,Silent,Missense_T69I,Missense_T69I exm139720 1 203194899 [T/G] NM_001256125,NR_045785,NR_045784,NM_001270509,NM_003465 CHIT1,CHIT1,CHIT1,CHIT1,CHIT1 EXON Missense_T52N,Silent,Silent,Missense_T52N,Missense_T52N exm139723 1 203194935 [T/C] NM_001256125,NR_045785,NR_045784,NM_001270509,NM_003465 CHIT1,CHIT1,CHIT1,CHIT1,CHIT1 EXON Missense_R40H,Silent,Silent,Missense_R40H,Missense_R40H exm139726 1 203194965 [T/C] NM_001256125,NR_045785,NR_045784,NM_001270509,NM_003465 CHIT1,CHIT1,CHIT1,CHIT1,CHIT1 EXON Missense_N30S,Silent,Silent,Missense_N30S,Missense_N30S exm-rs2494287 1 203207520 [T/C] exm2259932 1 203260756 [A/G] exm139763 1 203276546 [A/G] NM_006763 BTG2 EXON Missense_V153M exm2232286 1 203309752 [T/C] NM_002023 FMOD EXON Silent exm139777 1 203316428 [G/C] NM_002023 FMOD EXON Missense_R324T exm1747151 1 203316600 [C/G] NM_002023 FMOD EXON Missense_A267P exm139784 1 203316606 [A/G] NM_002023 FMOD EXON Missense_R265W exm1747152 1 203316723 [T/C] NM_002023 FMOD EXON Missense_I226V exm1747156 1 203316935 [G/C] NM_002023 FMOD EXON Missense_R155T exm139801 1 203316959 [T/C] NM_002023 FMOD EXON Missense_G147D exm139806 1 203317031 [A/C] NM_002023 FMOD EXON Missense_G123V exm139808 1 203317082 [T/C] NM_002023 FMOD EXON Missense_R106H exm139820 1 203317208 [A/G] NM_002023 FMOD EXON Missense_T64I exm139825 1 203317274 [T/G] NM_002023 FMOD EXON Missense_Y42S exm139833 1 203317394 [T/C] NM_002023 FMOD EXON Missense_Q2R exm2263844 1 203440733 [A/C] exm1747168 1 203452341 [T/C] NM_201348,NM_002725 PRELP,PRELP EXON Missense_P10L,Missense_P10L exm1747169 1 203452346 [T/C] NM_201348,NM_002725 PRELP,PRELP EXON Missense_L12F,Missense_L12F exm2273738 1 203452596 [A/G] NM_201348,NM_002725 PRELP,PRELP EXON Missense_R95Q,Missense_R95Q exm139854 1 203452753 [T/G] NM_201348,NM_002725 PRELP,PRELP EXON Missense_E147D,Missense_E147D exm139856 1 203452763 [A/G] NM_201348,NM_002725 PRELP,PRELP EXON Missense_G151S,Missense_G151S exm139858 1 203452781 [A/G] NM_201348,NM_002725 PRELP,PRELP EXON Missense_M157V,Missense_M157V exm139859 1 203452793 [A/C] NM_201348,NM_002725 PRELP,PRELP EXON Missense_Q161K,Missense_Q161K exm139866 1 203452929 [A/G] NM_201348,NM_002725 PRELP,PRELP EXON Missense_R206K,Missense_R206K exm2232290 1 203452955 [A/G] NM_201348,NM_002725 PRELP,PRELP EXON Missense_D215N,Missense_D215N exm139884 1 203453268 [A/C] NM_201348,NM_002725 PRELP,PRELP EXON Missense_N319T,Missense_N319T exm139888 1 203455861 [A/G] NM_201348,NM_002725 PRELP,PRELP EXON Missense_N334S,Missense_N334S exm139891 1 203455902 [A/C] NM_201348,NM_002725 PRELP,PRELP EXON Missense_N348H,Missense_N348H exm139904 1 203465174 [T/C] NM_014359 OPTC EXON Missense_L14P exm139907 1 203465273 [A/G] NM_014359 OPTC EXON Missense_R47Q exm139908 1 203465312 [T/C] NM_014359 OPTC EXON Missense_I60T exm139917 1 203466190 [T/C] NM_014359 OPTC EXON Missense_T106M exm139924 1 203467929 [T/G] NM_014359 OPTC EXON Missense_R164L exm139927 1 203467938 [A/G] NM_014359 OPTC EXON Missense_R167H exm139929 1 203467949 [A/G] NM_014359 OPTC EXON Missense_E171K exm2232291 1 203467965 [T/C] NM_014359 OPTC EXON Missense_L176P exm139932 1 203468792 [T/C] NM_014359 OPTC EXON Missense_I182T exm139933 1 203468797 [G/C] NM_014359 OPTC EXON Missense_L184V exm139941 1 203468932 [T/C] NM_014359 OPTC EXON Missense_R229C exm139949 1 203472112 [T/C] NM_014359 OPTC EXON Missense_L268P exm139954 1 203472696 [A/C] NM_014359 OPTC EXON Missense_M283L exm139956 1 203472708 [A/G] NM_014359 OPTC EXON Missense_V287I exm139957 1 203472742 [A/G] NM_014359 OPTC EXON Missense_R298H exm139962 1 203472822 [T/C] NM_014359 OPTC EXON Missense_R325W exm139964 1 203472838 [A/G] NM_014359 OPTC EXON Missense_R330H exm139968 1 203652338 [T/C] NM_001001396,NM_001684 ATP2B4,ATP2B4 EXON Missense_T2M,Missense_T2M exm2275533 1 203652352 [A/C] NM_001001396,NM_001684 ATP2B4,ATP2B4 EXON Missense_R7S,Missense_R7S exm139971 1 203652469 [A/G] NM_001001396,NM_001684 ATP2B4,ATP2B4 EXON Missense_V46I,Missense_V46I exm139979 1 203667459 [A/G] NM_001001396,NM_001684 ATP2B4,ATP2B4 EXON Missense_R123H,Missense_R123H exm139984 1 203668744 [A/G] NM_001001396,NM_001684 ATP2B4,ATP2B4 EXON Missense_R183H,Missense_R183H exm139997 1 203670013 [T/G] NM_001001396,NM_001684 ATP2B4,ATP2B4 EXON Missense_G288V,Missense_G288V exm140007 1 203672867 [T/C] NM_001001396,NM_001684 ATP2B4,ATP2B4 EXON Missense_V342A,Missense_V342A exm140021 1 203677138 [A/G] NM_001001396,NM_001684 ATP2B4,ATP2B4 EXON Missense_R488H,Missense_R488H exm140045 1 203680024 [T/C] NM_001001396,NM_001684 ATP2B4,ATP2B4 EXON Missense_R607W,Missense_R607W exm140049 1 203680051 [A/C] NM_001001396,NM_001684 ATP2B4,ATP2B4 EXON Missense_N616H,Missense_N616H exm140050 1 203680052 [A/G] NM_001001396,NM_001684 ATP2B4,ATP2B4 EXON Missense_N616S,Missense_N616S exm140057 1 203680186 [A/G] NM_001001396,NM_001684 ATP2B4,ATP2B4 EXON Missense_E661K,Missense_E661K exm140060 1 203680201 [A/G] NM_001001396,NM_001684 ATP2B4,ATP2B4 EXON Missense_A666T,Missense_A666T exm140068 1 203681172 [A/G] NM_001001396,NM_001684 ATP2B4,ATP2B4 EXON Missense_I706V,Missense_I706V exm1747247 1 203690406 [T/C] NM_001001396,NM_001684 ATP2B4,ATP2B4 EXON Missense_P894S,Missense_P894S exm140092 1 203690537 [A/G] NM_001001396,NM_001684 ATP2B4,ATP2B4 EXON Synonymous_A937A,Synonymous_A937A exm140093 1 203691612 [A/G] NM_001001396,NM_001684 ATP2B4,ATP2B4 EXON Missense_K940R,Missense_K940R exm1747254 1 203691770 [C/G] NM_001001396,NM_001684 ATP2B4,ATP2B4 EXON Missense_R993G,Missense_R993G exm140102 1 203691771 [A/G] NM_001001396,NM_001684 ATP2B4,ATP2B4 EXON Missense_R993H,Missense_R993H exm140107 1 203693084 [T/C] NM_001001396,NM_001684 ATP2B4,ATP2B4 EXON Missense_F1034L,Missense_F1034L exm140112 1 203696548 [T/C] NM_001001396,NM_001684 ATP2B4,ATP2B4 EXON Missense_S1053F,Missense_S1053F exm140126 1 203708710 [A/G] NM_001001396,NM_001684 ATP2B4,ATP2B4 EXON Silent,Missense_E1116K exm140128 1 203708783 [A/T] NM_001001396,NM_001684 ATP2B4,ATP2B4 EXON Silent,Missense_E1140V exm140134 1 203708945 [T/C] NM_001001396,NM_001684 ATP2B4,ATP2B4 EXON Silent,Missense_S1194L exm140146 1 203734770 [A/G] NM_017773,NM_001136190 LAX1,LAX1 EXON Missense_R26H,Silent exm140149 1 203739987 [A/G] NM_017773,NM_001136190 LAX1,LAX1 EXON Missense_G41R,Missense_G25R exm2275535 1 203740005 [A/G] NM_017773,NM_001136190 LAX1,LAX1 EXON Missense_A47T,Missense_A31T exm140151 1 203740024 [T/C] NM_017773,NM_001136190 LAX1,LAX1 EXON Missense_A53V,Missense_A37V exm140153 1 203740057 [A/G] NM_017773,NM_001136190 LAX1,LAX1 EXON Missense_R64Q,Missense_R48Q exm140164 1 203741217 [T/C] NM_017773,NM_001136190 LAX1,LAX1 EXON Missense_M111T,Missense_M95T exm140166 1 203743003 [A/C] NM_017773,NM_001136190 LAX1,LAX1 EXON Missense_P131T,Missense_P115T exm140172 1 203743063 [A/G] NM_017773,NM_001136190 LAX1,LAX1 EXON Missense_A151T,Missense_A135T exm140179 1 203743128 [A/C] NM_017773,NM_001136190 LAX1,LAX1 EXON Missense_H172Q,Missense_H156Q exm140180 1 203743145 [T/C] NM_017773,NM_001136190 LAX1,LAX1 EXON Missense_A178V,Missense_A162V exm140183 1 203743286 [T/C] NM_017773,NM_001136190 LAX1,LAX1 EXON Missense_L225P,Missense_L209P exm140188 1 203743360 [G/C] NM_017773,NM_001136190 LAX1,LAX1 EXON Missense_E250Q,Missense_E234Q exm2232298 1 203743490 [A/G] NM_017773,NM_001136190 LAX1,LAX1 EXON Missense_D293G,Missense_D277G exm140191 1 203743520 [G/C] NM_017773,NM_001136190 LAX1,LAX1 EXON Missense_S303T,Missense_S287T exm140192 1 203743546 [A/G] NM_017773,NM_001136190 LAX1,LAX1 EXON Missense_D312N,Missense_D296N exm1747284 1 203743576 [A/G] NM_017773,NM_001136190 LAX1,LAX1 EXON Missense_E322K,Missense_E306K exm140195 1 203743597 [A/G] NM_017773,NM_001136190 LAX1,LAX1 EXON Missense_G329R,Missense_G313R exm140197 1 203743706 [T/C] NM_017773,NM_001136190 LAX1,LAX1 EXON Missense_M365T,Missense_M349T exm140201 1 203743798 [T/C] NM_017773,NM_001136190 LAX1,LAX1 EXON Missense_P396S,Missense_P380S exm140205 1 203766895 [T/C] NM_014827,NM_001174108 ZC3H11A,ZBED6 EXON Silent,Missense_A82V exm140206 1 203766964 [A/G] NM_014827,NM_001174108 ZC3H11A,ZBED6 EXON Silent,Missense_N105S exm140207 1 203767030 [A/G] NM_014827,NM_001174108 ZC3H11A,ZBED6 EXON Silent,Missense_S127N exm140212 1 203767822 [T/G] NM_014827,NM_001174108 ZC3H11A,ZBED6 EXON Silent,Missense_L391R exm140215 1 203768328 [T/C] NM_014827,NM_001174108 ZC3H11A,ZBED6 EXON Silent,Missense_F560L exm140218 1 203769532 [A/G] NM_014827,NM_001174108 ZC3H11A,ZBED6 EXON Silent,Missense_S961N exm140223 1 203787727 [A/C] NM_014827 ZC3H11A EXON Missense_E28D exm140243 1 203798949 [G/C] NM_014827 ZC3H11A EXON Missense_L182V exm140247 1 203798997 [T/C] NM_014827 ZC3H11A EXON Missense_R198W exm140251 1 203799328 [A/G] NM_014827 ZC3H11A EXON Missense_G233S exm140281 1 203816665 [A/G] NM_014827 ZC3H11A EXON Missense_M466V exm140284 1 203816767 [A/G] NM_014827 ZC3H11A EXON Missense_E500K exm140285 1 203816788 [T/C] NM_014827 ZC3H11A EXON Missense_R507W exm140292 1 203817527 [A/G] NM_014827 ZC3H11A EXON Missense_A539T exm140302 1 203819122 [C/G] NM_014827 ZC3H11A EXON Missense_C636S exm140306 1 203819654 [A/G] NM_014827 ZC3H11A EXON Missense_V651M exm2232306 1 203823256 [A/G] NM_014827 ZC3H11A EXON Silent exm2250494 1 203898362 [T/G] exm140368 1 204082173 [A/G] NM_005686 SOX13 EXON Missense_A44T exm140381 1 204086760 [G/C] NM_005686 SOX13 EXON Missense_P234A exm140396 1 204091410 [A/G] NM_005686 SOX13 EXON Missense_E303K exm140397 1 204091447 [T/G] NM_005686 SOX13 EXON Missense_M315R exm140398 1 204091459 [T/C] NM_005686 SOX13 EXON Missense_V319A exm140406 1 204092030 [A/G] NM_005686 SOX13 EXON Missense_R358Q exm140408 1 204092087 [A/G] NM_005686 SOX13 EXON Missense_R377H exm140411 1 204092283 [A/G] NM_005686 SOX13 EXON Missense_E393G exm140413 1 204092288 [A/G] NM_005686 SOX13 EXON Missense_G395S exm140414 1 204092317 [A/G] NM_005686 SOX13 EXON Missense_M404I exm140420 1 204093880 [A/G] NM_005686 SOX13 EXON Missense_R496Q exm140424 1 204094987 [T/C] NM_005686 SOX13 EXON Missense_P532S exm140434 1 204095192 [A/G] NM_005686 SOX13 EXON Missense_R600Q exm140438 1 204095221 [A/G] NM_005686 SOX13 EXON Missense_E610K exm140453 1 204106316 [C/G] NM_018208 ETNK2 EXON Missense_H310Q exm140456 1 204106337 [C/G] NM_018208 ETNK2 EXON Missense_E303D exm140457 1 204106341 [T/C] NM_018208 ETNK2 EXON Missense_R302Q exm140469 1 204110547 [T/C] NM_018208 ETNK2 EXON Missense_R227Q exm-rs3795578 1 204112984 [A/G] NM_018208 ETNK2 Silent exm140492 1 204118850 [A/G] NM_018208 ETNK2 EXON Missense_R167C exm140504 1 204120952 [T/G] NM_018208 ETNK2 EXON Missense_P10Q exm1747418 1 204125029 [A/G] NM_000537 REN EXON Synonymous_N326N exm140535 1 204128567 [T/C] NM_000537 REN EXON Missense_G217R exm140542 1 204128683 [A/G] NM_000537 REN EXON Missense_T178M exm140567 1 204131245 [A/G] NM_000537 REN EXON Nonsense_R49X exm140569 1 204135325 [A/G] NM_000537 REN EXON Missense_R33W exm140581 1 204159701 [T/G] NM_002256 KISS1 EXON Missense_P110T exm140589 1 204159922 [T/C] NM_002256 KISS1 EXON Missense_Q36R exm2232309 1 204170776 [A/C] NM_198447 GOLT1A EXON Missense_F94C exm140604 1 204170801 [T/C] NM_198447 GOLT1A EXON Missense_G86S exm140608 1 204170825 [T/C] NM_198447 GOLT1A EXON Missense_V78M exm140612 1 204170926 [A/G] NM_198447 GOLT1A EXON Missense_T44M exm140633 1 204197220 [T/G] NM_014935 PLEKHA6 EXON Missense_M1008L exm140642 1 204197356 [A/G] NM_014935 PLEKHA6 EXON Synonymous_S962S exm140652 1 204198120 [T/C] NM_014935 PLEKHA6 EXON Missense_R899Q exm140657 1 204198175 [A/G] NM_014935 PLEKHA6 EXON Missense_R881W exm1747483 1 204198210 [T/G] NM_014935 PLEKHA6 EXON Missense_H869P exm2263845 1 204198882 [A/C] NM_014935 PLEKHA6 Silent exm140669 1 204199614 [T/C] NM_014935 PLEKHA6 EXON Missense_R837K exm140687 1 204214011 [A/G] NM_014935 PLEKHA6 EXON Missense_T718I exm140691 1 204214075 [A/G] NM_014935 PLEKHA6 EXON Missense_S697P exm140709 1 204217950 [A/G] NM_014935 PLEKHA6 EXON Missense_T608M exm2250495 1 204217973 [A/G] NM_014935 PLEKHA6 EXON Synonymous_R600R exm140714 1 204217977 [A/C] NM_014935 PLEKHA6 EXON Missense_I599S exm140719 1 204218334 [A/C] NM_014935 PLEKHA6 EXON Missense_V551G exm140722 1 204218355 [A/G] NM_014935 PLEKHA6 EXON Missense_V544A exm140726 1 204219718 [A/G] NM_014935 PLEKHA6 EXON Missense_R517W exm140739 1 204226708 [A/G] NM_014935 PLEKHA6 EXON Missense_Y433H exm140744 1 204226775 [A/C] NM_014935 PLEKHA6 EXON Missense_K410N exm140748 1 204226851 [A/G] NM_014935 PLEKHA6 EXON Missense_P385L exm140759 1 204228419 [T/C] NM_014935 PLEKHA6 EXON Missense_R325H exm1747518 1 204228488 [T/C] NM_014935 PLEKHA6 EXON Missense_R302H exm1747519 1 204228503 [T/C] NM_014935 PLEKHA6 EXON Missense_R297Q exm140766 1 204228558 [A/G] NM_014935 PLEKHA6 EXON Missense_R279W exm140775 1 204228665 [A/G] NM_014935 PLEKHA6 EXON Missense_P243L exm2250496 1 204230565 [A/G] NM_014935 PLEKHA6 EXON Synonymous_A131A exm140790 1 204230576 [T/C] NM_014935 PLEKHA6 EXON Missense_A128T exm140803 1 204236636 [T/C] NM_014935 PLEKHA6 EXON Missense_V83I exm1747532 1 204237368 [A/G] NM_014935 PLEKHA6 EXON Missense_P59S exm140814 1 204242756 [A/G] NM_014935 PLEKHA6 EXON Missense_R34W exm140818 1 204242827 [A/G] NM_014935 PLEKHA6 EXON Missense_P10L exm140830 1 204378654 [G/C] NM_032833 PPP1R15B EXON Missense_S629C exm140834 1 204378775 [T/C] NM_032833 PPP1R15B EXON Missense_K589E exm140836 1 204378846 [A/G] NM_032833 PPP1R15B EXON Missense_P565L exm140847 1 204379024 [T/C] NM_032833 PPP1R15B EXON Missense_E506K exm140851 1 204379089 [A/G] NM_032833 PPP1R15B EXON Missense_V484A exm140857 1 204379133 [T/A] NM_032833 PPP1R15B EXON Missense_E469D exm140865 1 204379297 [T/C] NM_032833 PPP1R15B EXON Missense_I415V exm140871 1 204379452 [T/C] NM_032833 PPP1R15B EXON Missense_E363G exm140879 1 204379752 [T/G] NM_032833 PPP1R15B EXON Missense_D263A exm140880 1 204379758 [T/C] NM_032833 PPP1R15B EXON Missense_R261K exm140892 1 204380022 [A/G] NM_032833 PPP1R15B EXON Missense_A173V exm140896 1 204380085 [A/G] NM_032833 PPP1R15B EXON Missense_S152L exm140897 1 204380110 [T/C] NM_032833 PPP1R15B EXON Missense_E144K exm140898 1 204380127 [A/C] NM_032833 PPP1R15B EXON Missense_S138I exm140906 1 204380232 [T/C] NM_032833 PPP1R15B EXON Missense_Y103C exm140920 1 204380375 [G/C] NM_032833 PPP1R15B EXON Missense_Q55H exm140922 1 204380404 [T/C] NM_032833 PPP1R15B EXON Missense_G46R exm140925 1 204380464 [A/G] NM_032833 PPP1R15B EXON Missense_P26S exm140936 1 204394023 [G/C] NM_002646 PIK3C2B EXON Missense_T1621S exm140939 1 204394056 [T/C] NM_002646 PIK3C2B EXON Missense_R1610H exm140942 1 204394081 [T/C] NM_002646 PIK3C2B EXON Missense_V1602I exm140946 1 204394119 [A/T] NM_002646 PIK3C2B EXON Missense_Q1589L exm140953 1 204396787 [T/C] NM_002646 PIK3C2B EXON Missense_I1526V exm140959 1 204396867 [T/C] NM_002646 PIK3C2B EXON Missense_R1499Q exm140974 1 204399135 [A/G] NM_002646 PIK3C2B EXON Missense_R1438W exm2275536 1 204399144 [G/C] NM_002646 PIK3C2B EXON Missense_G1435R exm1747569 1 204400886 [A/G] NM_002646 PIK3C2B EXON Synonymous_H1397H exm140985 1 204401338 [T/A] NM_002646 PIK3C2B EXON Missense_N1382I exm140988 1 204401392 [G/C] NM_002646 PIK3C2B EXON Missense_S1364C exm141026 1 204409403 [T/C] NM_002646 PIK3C2B EXON Missense_R1099H exm141032 1 204411688 [G/C] NM_002646 PIK3C2B EXON Missense_S1041T exm141035 1 204411723 [T/G] NM_002646 PIK3C2B EXON Missense_F1029L exm141036 1 204411734 [T/C] NM_002646 PIK3C2B EXON Missense_V1026M exm141038 1 204412558 [T/G] NM_002646 PIK3C2B EXON Missense_P1012Q exm1747595 1 204412570 [T/C] NM_002646 PIK3C2B EXON Missense_R1008Q exm141040 1 204412582 [G/C] NM_002646 PIK3C2B EXON Missense_A1004G exm141041 1 204412588 [T/C] NM_002646 PIK3C2B EXON Missense_K1002R exm1747599 1 204413251 [A/G] NM_002646 PIK3C2B EXON Missense_R938C exm141049 1 204413259 [A/G] NM_002646 PIK3C2B EXON Missense_P935L exm141054 1 204413505 [A/G] NM_002646 PIK3C2B EXON Missense_S909L exm141061 1 204415207 [A/G] NM_002646 PIK3C2B EXON Missense_S852L exm141066 1 204416604 [A/G] NM_002646 PIK3C2B EXON Missense_R817C exm141067 1 204416625 [T/C] NM_002646 PIK3C2B EXON Missense_S810G exm141078 1 204418411 [T/C] NM_002646 PIK3C2B EXON Missense_G750S exm141083 1 204419062 [A/G] NM_002646 PIK3C2B EXON Missense_P717L exm2232315 1 204419139 [C/G] NM_002646 PIK3C2B EXON Missense_C691W exm141087 1 204419142 [G/C] NM_002646 PIK3C2B EXON Missense_I690M exm141088 1 204423810 [T/C] NM_002646 PIK3C2B EXON Missense_V685I exm141103 1 204426183 [A/C] NM_002646 PIK3C2B EXON Missense_A577S exm141114 1 204429679 [A/G] NM_002646 PIK3C2B EXON Missense_T474M exm141115 1 204429697 [T/C] NM_002646 PIK3C2B EXON Missense_R468H exm141116 1 204429698 [A/G] NM_002646 PIK3C2B EXON Missense_R468C exm141119 1 204429727 [T/C] NM_002646 PIK3C2B EXON Missense_R458Q exm2250498 1 204429756 [T/C] NM_002646 PIK3C2B EXON Synonymous_Q448Q exm141131 1 204434438 [A/G] NM_002646 PIK3C2B EXON Missense_R315W exm141147 1 204438032 [A/G] NM_002646 PIK3C2B EXON Missense_T300M exm141153 1 204438113 [T/G] NM_002646 PIK3C2B EXON Missense_P273H exm141161 1 204438186 [A/C] NM_002646 PIK3C2B EXON Missense_L249V exm141164 1 204438236 [T/C] NM_002646 PIK3C2B EXON Missense_N232S exm141170 1 204438326 [A/C] NM_002646 PIK3C2B EXON Missense_L202R exm2259933 1 204438334 [T/C] NM_002646 PIK3C2B EXON Synonymous_P199P exm141173 1 204438340 [A/T] NM_002646 PIK3C2B EXON Missense_Q197H exm2250499 1 204438643 [T/G] NM_002646 PIK3C2B EXON Synonymous_L96L exm141190 1 204438708 [A/G] NM_002646 PIK3C2B EXON Missense_R75W exm141198 1 204438908 [T/C] NM_002646 PIK3C2B EXON Missense_G8E exm141203 1 204494668 [A/G] NR_024171,NM_002393,NM_001204172,NM_001204171 MDM4,MDM4,MDM4,MDM4 EXON Silent,Missense_A8T,Missense_A8T,Missense_A8T exm141205 1 204494703 [C/G] NR_024171,NM_002393,NM_001204172,NM_001204171 MDM4,MDM4,MDM4,MDM4 EXON Silent,Missense_I19M,Missense_I19M,Missense_I19M exm141228 1 204507383 [A/G] NR_024171,NM_002393,NM_001204172,NM_001204171 MDM4,MDM4,MDM4,MDM4 EXON Silent,Missense_D153G,Silent,Missense_D153G exm141235 1 204511924 [T/C] NR_024171,NM_002393,NM_001204172,NM_001204171 MDM4,MDM4,MDM4,MDM4 EXON Silent,Missense_I175T,Silent,Missense_I175T exm141236 1 204511936 [C/G] NR_024171,NM_002393,NM_001204172,NM_001204171 MDM4,MDM4,MDM4,MDM4 EXON Silent,Missense_A179G,Silent,Missense_A179G exm141249 1 204515925 [T/G] NR_024171,NM_002393,NM_001204172,NM_001204171 MDM4,MDM4,MDM4,MDM4 EXON Silent,Missense_V275L,Silent,Missense_V225L exm141250 1 204515942 [A/C] NR_024171,NM_002393,NM_001204172,NM_001204171 MDM4,MDM4,MDM4,MDM4 EXON Silent,Missense_K280N,Silent,Missense_K230N exm141256 1 204518437 [T/C] NR_024171,NM_002393,NM_001204172,NM_001204171 MDM4,MDM4,MDM4,MDM4 EXON Silent,Missense_S367L,Missense_S41L,Missense_S317L exm141258 1 204518457 [A/C] NR_024171,NM_002393,NM_001204172,NM_001204171 MDM4,MDM4,MDM4,MDM4 EXON Silent,Missense_K374Q,Missense_K48Q,Missense_K324Q exm141261 1 204518499 [C/G] NR_024171,NM_002393,NM_001204172,NM_001204171 MDM4,MDM4,MDM4,MDM4 EXON Silent,Missense_P388A,Missense_P62A,Missense_P338A exm141262 1 204518502 [T/C] NR_024171,NM_002393,NM_001204172,NM_001204171 MDM4,MDM4,MDM4,MDM4 EXON Silent,Missense_C389R,Missense_C63R,Missense_C339R exm141263 1 204518530 [T/C] NR_024171,NM_002393,NM_001204172,NM_001204171 MDM4,MDM4,MDM4,MDM4 EXON Silent,Missense_A398V,Missense_A72V,Missense_A348V exm-rs12143943 1 204572071 [A/G] exm141273 1 204587044 [T/C] NM_201630,NM_006338 LRRN2,LRRN2 EXON Missense_G693R,Missense_G693R exm141274 1 204587047 [A/G] NM_201630,NM_006338 LRRN2,LRRN2 EXON Missense_P692S,Missense_P692S exm141278 1 204587145 [A/G] NM_201630,NM_006338 LRRN2,LRRN2 EXON Missense_V659A,Missense_V659A exm141279 1 204587173 [C/G] NM_201630,NM_006338 LRRN2,LRRN2 EXON Missense_L650V,Missense_L650V exm141283 1 204587226 [A/G] NM_201630,NM_006338 LRRN2,LRRN2 EXON Missense_I632T,Missense_I632T exm141289 1 204587364 [T/C] NM_201630,NM_006338 LRRN2,LRRN2 EXON Missense_R586H,Missense_R586H exm141292 1 204587394 [A/G] NM_201630,NM_006338 LRRN2,LRRN2 EXON Missense_P576L,Missense_P576L exm141294 1 204587427 [T/C] NM_201630,NM_006338 LRRN2,LRRN2 EXON Missense_R565Q,Missense_R565Q exm141295 1 204587440 [T/C] NM_201630,NM_006338 LRRN2,LRRN2 EXON Missense_A561T,Missense_A561T exm141298 1 204587548 [T/C] NM_201630,NM_006338 LRRN2,LRRN2 EXON Missense_E525K,Missense_E525K exm1747703 1 204587589 [A/C] NM_201630,NM_006338 LRRN2,LRRN2 EXON Missense_S511I,Missense_S511I exm141347 1 204588444 [T/C] NM_201630,NM_006338 LRRN2,LRRN2 EXON Missense_R226Q,Missense_R226Q exm141351 1 204588493 [A/G] NM_201630,NM_006338 LRRN2,LRRN2 EXON Missense_R210W,Missense_R210W exm141356 1 204588529 [T/C] NM_201630,NM_006338 LRRN2,LRRN2 EXON Missense_G198S,Missense_G198S exm141357 1 204588574 [A/G] NM_201630,NM_006338 LRRN2,LRRN2 EXON Missense_R183C,Missense_R183C exm141361 1 204588642 [A/G] NM_201630,NM_006338 LRRN2,LRRN2 EXON Missense_A160V,Missense_A160V exm141369 1 204588729 [T/C] NM_201630,NM_006338 LRRN2,LRRN2 EXON Missense_R131Q,Missense_R131Q exm1747716 1 204588793 [T/C] NM_201630,NM_006338 LRRN2,LRRN2 EXON Missense_D110N,Missense_D110N exm141372 1 204588799 [T/C] NM_201630,NM_006338 LRRN2,LRRN2 EXON Missense_A108T,Missense_A108T exm141376 1 204588859 [G/C] NM_201630,NM_006338 LRRN2,LRRN2 EXON Missense_E88Q,Missense_E88Q exm141383 1 204588988 [A/C] NM_201630,NM_006338 LRRN2,LRRN2 EXON Missense_S45A,Missense_S45A exm141385 1 204589057 [T/C] NM_201630,NM_006338 LRRN2,LRRN2 EXON Missense_V22M,Missense_V22M exm141386 1 204589066 [T/C] NM_201630,NM_006338 LRRN2,LRRN2 EXON Missense_A19T,Missense_A19T exm141388 1 204589101 [A/G] NM_201630,NM_006338 LRRN2,LRRN2 EXON Missense_P7L,Missense_P7L exm-rs2025236 1 204783205 [A/G] exm2259934 1 204866365 [T/C] NM_001005388,NM_001005389,NM_001160333,NM_001160332,NM_015090 NFASC,NFASC,NFASC,NFASC,NFASC Silent,Silent,Silent,Silent,Silent exm2250500 1 204871146 [T/C] NM_001005388,NM_001005389,NM_001160333,NM_001160332,NM_015090 NFASC,NFASC,NFASC,NFASC,NFASC Silent,Silent,Silent,Silent,Silent exm141412 1 204923406 [A/C] NM_001005388,NM_001005389,NM_001160333,NM_001160332,NM_015090,NM_001160331 NFASC,NFASC,NFASC,NFASC,NFASC,NFASC EXON Missense_D102E,Missense_D102E,Missense_D96E,Missense_D96E,Missense_D96E,Missense_D96E exm141416 1 204923418 [T/C] NM_001005388,NM_001005389,NM_001160333,NM_001160332,NM_015090,NM_001160331 NFASC,NFASC,NFASC,NFASC,NFASC,NFASC EXON Synonymous_G106G,Synonymous_G106G,Synonymous_G100G,Synonymous_G100G,Synonymous_G100G,Synonymous_G100G exm2250502 1 204923418 [T/C] NM_001005388,NM_001005389,NM_001160333,NM_001160332,NM_015090,NM_001160331 NFASC,NFASC,NFASC,NFASC,NFASC,NFASC EXON Synonymous_G106G,Synonymous_G106G,Synonymous_G100G,Synonymous_G100G,Synonymous_G100G,Synonymous_G100G exm141421 1 204923497 [T/C] NM_001005388,NM_001005389,NM_001160333,NM_001160332,NM_015090,NM_001160331 NFASC,NFASC,NFASC,NFASC,NFASC,NFASC EXON Missense_R133C,Missense_R133C,Missense_R127C,Missense_R127C,Missense_R127C,Missense_R127C exm141428 1 204924020 [T/C] NM_001005388,NM_001005389,NM_001160333,NM_001160332,NM_015090,NM_001160331 NFASC,NFASC,NFASC,NFASC,NFASC,NFASC EXON Missense_T159M,Missense_T159M,Missense_T153M,Missense_T153M,Missense_T153M,Missense_T153M exm141468 1 204943333 [T/C] NM_001005388,NM_001005389,NM_001160333,NM_001160332,NM_015090,NM_001160331 NFASC,NFASC,NFASC,NFASC,NFASC,NFASC EXON Missense_R436W,Missense_R436W,Missense_R430W,Missense_R447W,Missense_R447W,Missense_R447W exm1747767 1 204943844 [A/G] NM_001005388,NM_001005389,NM_001160333,NM_001160332,NM_015090,NM_001160331 NFASC,NFASC,NFASC,NFASC,NFASC,NFASC EXON Missense_G484D,Missense_G484D,Missense_G478D,Missense_G495D,Missense_G495D,Missense_G495D exm141485 1 204943936 [T/C] NM_001005388,NM_001005389,NM_001160333,NM_001160332,NM_015090,NM_001160331 NFASC,NFASC,NFASC,NFASC,NFASC,NFASC EXON Missense_R515C,Missense_R515C,Missense_R509C,Missense_R526C,Missense_R526C,Missense_R526C exm141489 1 204944417 [A/G] NM_001005388,NM_001005389,NM_001160333,NM_001160332,NM_015090,NM_001160331 NFASC,NFASC,NFASC,NFASC,NFASC,NFASC EXON Missense_R526Q,Missense_R526Q,Missense_R520Q,Missense_R537Q,Missense_R537Q,Missense_R537Q exm141518 1 204948583 [A/G] NM_001005388,NM_001160332,NM_015090,NM_001160331 NFASC,NFASC,NFASC,NFASC EXON Missense_R691Q,Missense_R687Q,Missense_R687Q,Missense_R702Q exm141529 1 204950996 [A/G] NM_001005388,NM_001160332,NM_015090,NM_001160331 NFASC,NFASC,NFASC,NFASC EXON Missense_R773Q,Missense_R769Q,Missense_R769Q,Missense_R784Q exm141530 1 204951013 [A/G] NM_001005388,NM_001160332,NM_015090,NM_001160331 NFASC,NFASC,NFASC,NFASC EXON Missense_V779I,Missense_V775I,Missense_V775I,Missense_V790I exm141531 1 204951037 [A/G] NM_001005388,NM_001160332,NM_015090,NM_001160331 NFASC,NFASC,NFASC,NFASC EXON Missense_V787M,Missense_V783M,Missense_V783M,Missense_V798M exm141534 1 204951061 [A/G] NM_001005388,NM_001160332,NM_015090,NM_001160331 NFASC,NFASC,NFASC,NFASC EXON Missense_V795M,Missense_V791M,Missense_V791M,Missense_V806M exm1747784 1 204953167 [T/C] NM_001005388,NM_001160332,NM_015090,NM_001160331 NFASC,NFASC,NFASC,NFASC EXON Silent,Missense_A824V,Missense_A824V,Missense_A839V exm141539 1 204953188 [A/G] NM_001005388,NM_001160332,NM_015090,NM_001160331 NFASC,NFASC,NFASC,NFASC EXON Silent,Missense_R831Q,Missense_R831Q,Missense_R846Q exm141550 1 204955073 [A/C] NM_001005388,NM_001160332,NM_015090,NM_001160331 NFASC,NFASC,NFASC,NFASC EXON Silent,Missense_N870K,Missense_N870K,Missense_N885K exm141553 1 204955131 [A/G] NM_001005388,NM_001160332,NM_015090,NM_001160331 NFASC,NFASC,NFASC,NFASC EXON Silent,Missense_V890M,Missense_V890M,Missense_V905M exm141556 1 204955234 [T/C] NM_001005388,NM_001160332,NM_015090,NM_001160331 NFASC,NFASC,NFASC,NFASC EXON Silent,Missense_P924L,Missense_P924L,Missense_P939L exm141558 1 204956575 [T/C] NM_001005388,NM_001160332,NM_015090,NM_001160331 NFASC,NFASC,NFASC,NFASC EXON Missense_R834W,Missense_R937W,Missense_R937W,Missense_R952W exm141566 1 204957826 [A/G] NM_001005388,NM_001160332,NM_015090,NM_001160331 NFASC,NFASC,NFASC,NFASC EXON Missense_V887M,Missense_V990M,Missense_V990M,Missense_V1005M exm141571 1 204957926 [T/C] NM_001005388,NM_001160332,NM_015090,NM_001160331 NFASC,NFASC,NFASC,NFASC EXON Missense_P920L,Missense_P1023L,Missense_P1023L,Missense_P1038L exm141572 1 204957932 [A/G] NM_001005388,NM_001160332,NM_015090,NM_001160331 NFASC,NFASC,NFASC,NFASC EXON Missense_E922G,Missense_E1025G,Missense_E1025G,Missense_E1040G exm141579 1 204966300 [T/C] NM_001005388,NM_001160332,NM_015090,NM_001160331 NFASC,NFASC,NFASC,NFASC EXON Missense_P929S,Silent,Silent,Silent exm141587 1 204966334 [T/C] NM_001005388,NM_001160332,NM_015090,NM_001160331 NFASC,NFASC,NFASC,NFASC EXON Missense_T940M,Silent,Silent,Silent exm141591 1 204966402 [A/G] NM_001005388,NM_001160332,NM_015090,NM_001160331 NFASC,NFASC,NFASC,NFASC EXON Missense_I963V,Silent,Silent,Silent exm141594 1 204966428 [C/G] NM_001005388,NM_001160332,NM_015090,NM_001160331 NFASC,NFASC,NFASC,NFASC EXON Missense_I971M,Silent,Silent,Silent exm141611 1 204971736 [A/G] NM_001005388,NM_001160332,NM_015090,NM_001160331 NFASC,NFASC,NFASC,NFASC EXON Missense_K1050R,Silent,Silent,Silent exm141619 1 204978703 [T/C] NM_001005388,NM_001160332,NM_015090,NM_001160331 NFASC,NFASC,NFASC,NFASC EXON Missense_A1103V,Missense_A1037V,Missense_A1032V,Missense_A1052V exm141625 1 204978777 [A/G] NM_001005388,NM_001160332,NM_015090,NM_001160331 NFASC,NFASC,NFASC,NFASC EXON Missense_V1128I,Missense_V1062I,Missense_V1057I,Missense_V1077I exm141651 1 205027156 [A/G] NM_005076 CNTN2 EXON Missense_A60T exm1747813 1 205027169 [A/G] NM_005076 CNTN2 EXON Missense_R64Q exm141654 1 205027192 [T/C] NM_005076 CNTN2 EXON Missense_R72W exm141655 1 205027193 [A/G] NM_005076 CNTN2 EXON Missense_R72Q exm141657 1 205027316 [A/G] NM_005076 CNTN2 EXON Missense_M75V exm141674 1 205027737 [A/G] NM_005076 CNTN2 EXON Missense_A145T exm141675 1 205027790 [A/C] NM_005076 CNTN2 EXON Synonymous_P162P exm141676 1 205028229 [T/C] NM_005076 CNTN2 EXON Missense_L169F exm141693 1 205030396 [A/G] NM_005076 CNTN2 EXON Missense_R274H exm141698 1 205030498 [T/C] NM_005076 CNTN2 EXON Missense_A308V exm141700 1 205030522 [T/C] NM_005076 CNTN2 EXON Missense_T316I exm141708 1 205031116 [T/C] NM_005076 CNTN2 EXON Missense_P366L exm141720 1 205033518 [G/C] NM_005076 CNTN2 EXON Missense_L437V exm141726 1 205033764 [A/C] NM_005076 CNTN2 EXON Missense_P469T exm141727 1 205033784 [A/G] NM_005076 CNTN2 EXON Missense_I475M exm141729 1 205033819 [T/C] NM_005076 CNTN2 EXON Missense_T487I exm141733 1 205034267 [A/C] NM_005076 CNTN2 EXON Missense_D524E exm141738 1 205034351 [A/C] NM_005076 CNTN2 EXON Missense_D552E exm141740 1 205034390 [A/G] NM_005076 CNTN2 EXON Synonymous_V565V exm141743 1 205034959 [T/C] NM_005076 CNTN2 EXON Missense_R580C exm141744 1 205034960 [A/G] NM_005076 CNTN2 EXON Missense_R580H exm141749 1 205035572 [T/C] NM_005076 CNTN2 EXON Missense_P607L exm2273740 1 205035721 [T/C] NM_005076 CNTN2 EXON Missense_R657W exm141753 1 205035727 [A/G] NM_005076 CNTN2 EXON Missense_N659D exm141754 1 205036239 [A/C] NM_005076 CNTN2 EXON Missense_N662K exm141757 1 205036357 [A/G] NM_005076 CNTN2 EXON Missense_K702E exm141760 1 205038625 [T/C] NM_005076 CNTN2 EXON Missense_S711L exm141763 1 205038648 [A/G] NM_005076 CNTN2 EXON Missense_G719R exm141765 1 205038965 [A/G] NM_005076 CNTN2 EXON Missense_R736Q exm141769 1 205039031 [A/G] NM_005076 CNTN2 EXON Nonsense_W758X exm141770 1 205039032 [T/G] NM_005076 CNTN2 EXON Missense_W758C exm141774 1 205039586 [A/C] NM_005076 CNTN2 EXON Missense_K822Q exm141781 1 205041138 [A/G] NM_005076 CNTN2 EXON Missense_D870N exm141783 1 205041159 [A/G] NM_005076 CNTN2 EXON Missense_G877S exm141788 1 205041241 [A/G] NM_005076 CNTN2 EXON Missense_N904S exm141799 1 205042840 [A/G] NM_005076 CNTN2 EXON Missense_V1024I exm141800 1 205042855 [A/G] NM_005076 CNTN2 EXON Missense_V1029M exm141808 1 205052685 [T/C] NM_203376 TMEM81 EXON Missense_Q255R exm141815 1 205052775 [A/G] NM_203376 TMEM81 EXON Missense_A225V exm141830 1 205053070 [T/C] NM_203376 TMEM81 EXON Missense_V127I exm141836 1 205053097 [A/G] NM_203376 TMEM81 EXON Missense_R118W exm141838 1 205053130 [T/A] NM_203376 TMEM81 EXON Missense_S107T exm141839 1 205053150 [A/G] NM_203376 TMEM81 EXON Missense_F100S exm141840 1 205053219 [T/C] NM_203376 TMEM81 EXON Missense_R77Q exm141843 1 205053265 [T/C] NM_203376 TMEM81 EXON Missense_V62I exm141844 1 205053315 [T/C] NM_203376 TMEM81 EXON Missense_N45S exm141855 1 205064024 [A/G] NM_001193273,NM_005057,NM_001193272 RBBP5,RBBP5,RBBP5 EXON Missense_A395V,Missense_A522V,Silent exm141860 1 205064160 [T/C] NM_001193273,NM_005057,NM_001193272 RBBP5,RBBP5,RBBP5 EXON Missense_G350S,Missense_G477S,Missense_G477S exm141909 1 205116700 [A/C] NM_199462,NM_015375 DSTYK,DSTYK EXON Missense_D881Y,Missense_D926Y exm141911 1 205116729 [A/G] NM_199462,NM_015375 DSTYK,DSTYK EXON Missense_S871F,Missense_S916F exm141913 1 205116750 [A/G] NM_199462,NM_015375 DSTYK,DSTYK EXON Missense_I864T,Missense_I909T exm141932 1 205128698 [A/G] NM_199462,NM_015375 DSTYK,DSTYK EXON Missense_R739W,Missense_R739W exm141933 1 205128707 [A/G] NM_199462,NM_015375 DSTYK,DSTYK EXON Missense_R736W,Missense_R736W exm141942 1 205129388 [T/A] NM_199462,NM_015375 DSTYK,DSTYK EXON Missense_K653N,Missense_K653N exm141944 1 205130413 [A/G] NM_199462,NM_015375 DSTYK,DSTYK EXON Missense_C641R,Missense_C641R exm141951 1 205131207 [T/C] NM_199462,NM_015375 DSTYK,DSTYK EXON Missense_R592Q,Missense_R592Q exm141952 1 205131208 [A/G] NM_199462,NM_015375 DSTYK,DSTYK EXON Missense_R592W,Missense_R592W exm141969 1 205138632 [T/G] NM_199462,NM_015375 DSTYK,DSTYK EXON Missense_K328T,Missense_K328T exm141979 1 205156545 [T/C] NM_199462,NM_015375 DSTYK,DSTYK Silent,Silent exm141982 1 205156631 [T/G] NM_199462,NM_015375 DSTYK,DSTYK EXON Missense_E190A,Missense_E190A exm141987 1 205156739 [T/C] NM_199462,NM_015375 DSTYK,DSTYK EXON Missense_R154H,Missense_R154H exm141989 1 205156743 [C/G] NM_199462,NM_015375 DSTYK,DSTYK EXON Missense_L153V,Missense_L153V exm142002 1 205180407 [A/T] NM_199462,NM_015375 DSTYK,DSTYK EXON Missense_L86Q,Missense_L86Q exm142003 1 205180453 [T/C] NM_199462,NM_015375 DSTYK,DSTYK EXON Missense_G71S,Missense_G71S exm142004 1 205180474 [A/G] NM_199462,NM_015375 DSTYK,DSTYK EXON Missense_L64F,Missense_L64F exm142026 1 205210709 [A/G] NM_014858,NM_001242925 TMCC2,TMCC2 EXON Missense_R95Q,Missense_R17Q exm2250503 1 205210806 [A/G] NM_014858,NM_001242925 TMCC2,TMCC2 EXON Synonymous_P127P,Synonymous_P49P exm142053 1 205211053 [A/G] NM_014858,NM_001242925 TMCC2,TMCC2 EXON Missense_I210V,Missense_I132V exm142058 1 205211131 [A/G] NM_014858,NM_001242925 TMCC2,TMCC2 EXON Missense_V236M,Missense_V158M exm142062 1 205211155 [A/G] NM_014858,NM_001242925 TMCC2,TMCC2 EXON Missense_E244K,Missense_E166K exm-rs1668873 1 205235990 [A/G] NM_014858,NM_001242925 TMCC2,TMCC2 Silent,Silent exm142113 1 205240262 [A/G] NM_014858,NM_001242925 TMCC2,TMCC2 EXON Missense_E566G,Missense_E488G exm142146 1 205272732 [A/G] NM_030952 NUAK2 EXON Missense_T578M exm142153 1 205272862 [A/G] NM_030952 NUAK2 EXON Missense_R535W exm142158 1 205272918 [A/G] NM_030952 NUAK2 EXON Missense_A516V exm142160 1 205272949 [T/C] NM_030952 NUAK2 EXON Missense_G506S exm142162 1 205272973 [A/G] NM_030952 NUAK2 EXON Missense_R498C exm142175 1 205273107 [T/C] NM_030952 NUAK2 EXON Missense_R453Q exm2250504 1 205277781 [T/C] NM_030952 NUAK2 EXON Synonymous_R144R exm142219 1 205277786 [T/C] NM_030952 NUAK2 EXON Missense_E143K exm142227 1 205277843 [T/G] NM_030952 NUAK2 EXON Missense_K124Q exm142236 1 205280934 [T/C] NM_030952 NUAK2 EXON Missense_R84Q exm142242 1 205290546 [A/G] NM_030952 NUAK2 EXON Missense_R71W exm142250 1 205290717 [A/G] NM_030952 NUAK2 EXON Missense_P14S exm142258 1 205306592 [T/C] NM_001271863,NM_001271864,NM_001271865,NM_018203 KLHDC8A,KLHDC8A,KLHDC8A,KLHDC8A EXON Missense_A330T,Missense_A330T,Missense_A330T,Missense_A330T exm142261 1 205306609 [A/C] NM_001271863,NM_001271864,NM_001271865,NM_018203 KLHDC8A,KLHDC8A,KLHDC8A,KLHDC8A EXON Missense_V324G,Missense_V324G,Missense_V324G,Missense_V324G exm142276 1 205307703 [T/C] NM_001271863,NM_001271864,NM_001271865,NM_018203 KLHDC8A,KLHDC8A,KLHDC8A,KLHDC8A EXON Missense_R260Q,Missense_R260Q,Missense_R260Q,Missense_R260Q exm142281 1 205308351 [T/C] NM_001271863,NM_001271864,NM_001271865,NM_018203 KLHDC8A,KLHDC8A,KLHDC8A,KLHDC8A EXON Missense_R243Q,Missense_R243Q,Missense_R243Q,Missense_R243Q exm142284 1 205308370 [A/G] NM_001271863,NM_001271864,NM_001271865,NM_018203 KLHDC8A,KLHDC8A,KLHDC8A,KLHDC8A EXON Missense_R237W,Missense_R237W,Missense_R237W,Missense_R237W exm142287 1 205308411 [T/C] NM_001271863,NM_001271864,NM_001271865,NM_018203 KLHDC8A,KLHDC8A,KLHDC8A,KLHDC8A EXON Missense_H223R,Missense_H223R,Missense_H223R,Missense_H223R exm142296 1 205308778 [T/C] NM_001271863,NM_001271864,NM_001271865,NM_018203 KLHDC8A,KLHDC8A,KLHDC8A,KLHDC8A EXON Missense_V179M,Missense_V179M,Missense_V179M,Missense_V179M exm1748009 1 205308785 [A/C] NM_001271863,NM_001271864,NM_001271865,NM_018203 KLHDC8A,KLHDC8A,KLHDC8A,KLHDC8A EXON Missense_K176N,Missense_K176N,Missense_K176N,Missense_K176N exm142311 1 205312438 [T/C] NM_001271863,NM_001271864,NM_001271865,NM_018203 KLHDC8A,KLHDC8A,KLHDC8A,KLHDC8A EXON Missense_M99V,Missense_M99V,Missense_M99V,Missense_M99V exm142319 1 205312566 [A/G] NM_001271863,NM_001271864,NM_001271865,NM_018203 KLHDC8A,KLHDC8A,KLHDC8A,KLHDC8A EXON Missense_A56V,Missense_A56V,Missense_A56V,Missense_A56V exm2250505 1 205318321 [T/C] NM_001271863,NM_001271864,NM_001271865,NM_018203 KLHDC8A,KLHDC8A,KLHDC8A,KLHDC8A Silent,Silent,Silent,Silent exm142334 1 205353492 [A/C] NR_038425,NM_001001552,NR_037583,NM_001199050,NM_001199052,NM_001199051 LEMD1-AS1,LEMD1,LEMD1,LEMD1,LEMD1,LEMD1 EXON Silent,Silent,Silent,Missense_W91G,Silent,Missense_W50G exm142336 1 205385412 [A/G] NM_001001552,NR_037583,NM_001199050,NM_001199052,NM_001199051 LEMD1,LEMD1,LEMD1,LEMD1,LEMD1 EXON Silent,Silent,Missense_I73T,Silent,Missense_I32T exm142341 1 205388384 [C/G] NM_001001552,NR_037583,NM_001199050,NM_001199052,NM_001199051 LEMD1,LEMD1,LEMD1,LEMD1,LEMD1 EXON Missense_G60A,Silent,Missense_G60A,Silent,Silent exm142345 1 205388448 [T/C] NM_001001552,NR_037583,NM_001199050,NM_001199052,NM_001199051 LEMD1,LEMD1,LEMD1,LEMD1,LEMD1 EXON Missense_V39I,Silent,Missense_V39I,Silent,Silent exm142351 1 205389592 [A/G] NM_001001552,NR_037583,NM_001199050,NM_001199052,NM_001199051 LEMD1,LEMD1,LEMD1,LEMD1,LEMD1 EXON Missense_P25S,Silent,Missense_P25S,Missense_P25S,Missense_P25S exm-rs16855698 1 205483124 [T/C] NM_212503,NM_212502,NM_002596 CDK18,CDK18,CDK18 Silent,Silent,Silent exm142359 1 205492387 [T/C] NM_212503,NM_212502,NM_002596 CDK18,CDK18,CDK18 EXON Missense_T31M,Missense_T31M,Missense_T31M exm142361 1 205492413 [T/C] NM_212503,NM_212502,NM_002596 CDK18,CDK18,CDK18 EXON Missense_R40W,Missense_R40W,Missense_R40W exm142362 1 205492417 [A/G] NM_212503,NM_212502,NM_002596 CDK18,CDK18,CDK18 EXON Missense_R41Q,Missense_R41Q,Missense_R41Q exm142366 1 205492622 [A/G] NM_212503,NM_212502,NM_002596 CDK18,CDK18,CDK18 EXON Missense_G48S,Missense_G48S,Missense_G48S exm142369 1 205492679 [A/G] NM_212503,NM_212502,NM_002596 CDK18,CDK18,CDK18 EXON Missense_G67R,Missense_G67R,Missense_G67R exm142375 1 205492797 [T/C] NM_212503,NM_212502,NM_002596 CDK18,CDK18,CDK18 EXON Missense_T106M,Silent,Silent exm142381 1 205493462 [A/C] NM_212503,NM_212502,NM_002596 CDK18,CDK18,CDK18 EXON Missense_R156S,Missense_R126S,Missense_R126S exm142391 1 205495233 [T/C] NM_212503,NM_212502,NM_002596 CDK18,CDK18,CDK18 EXON Missense_T196M,Missense_T166M,Missense_T166M exm142407 1 205496943 [T/C] NM_212503,NM_212502,NM_002596 CDK18,CDK18,CDK18 EXON Missense_R281W,Missense_R251W,Missense_R251W exm142416 1 205497202 [A/C] NM_212503,NM_212502,NM_002596 CDK18,CDK18,CDK18 EXON Missense_T324P,Missense_T294P,Missense_T294P exm142421 1 205498159 [G/C] NM_212503,NM_212502,NM_002596 CDK18,CDK18,CDK18 EXON Missense_T366R,Missense_T336R,Missense_T336R exm142425 1 205498475 [T/C] NM_212503,NM_212502,NM_002596 CDK18,CDK18,CDK18 EXON Missense_P396S,Missense_P366S,Missense_P366S exm142427 1 205498647 [A/G] NM_212503,NM_212502,NM_002596 CDK18,CDK18,CDK18 Silent,Silent,Silent exm142435 1 205499478 [A/G] NM_212503,NM_212502,NM_002596 CDK18,CDK18,CDK18 Silent,Silent,Silent exm142441 1 205499777 [A/G] NM_212503,NM_212502,NM_002596 CDK18,CDK18,CDK18 EXON Missense_K475R,Missense_K445R,Missense_K445R exm142445 1 205500475 [A/G] NM_212503,NM_212502,NM_002596 CDK18,CDK18,CDK18 EXON Missense_R495Q,Missense_R465Q,Missense_R465Q exm1748068 1 205500478 [A/G] NM_212503,NM_212502,NM_002596 CDK18,CDK18,CDK18 EXON Missense_G496E,Missense_G466E,Missense_G466E exm142459 1 205548956 [A/G] NM_181644 MFSD4 EXON Missense_R103H exm142472 1 205549933 [A/G] NM_181644 MFSD4 EXON Missense_G192S exm142473 1 205549945 [A/G] NM_181644 MFSD4 EXON Missense_V196I exm142509 1 205568301 [A/G] NM_181644 MFSD4 EXON Missense_V471M exm142527 1 205589075 [T/C] NM_001973,NM_021795 ELK4,ELK4 EXON Silent,Missense_M367V exm142534 1 205589237 [T/C] NM_001973,NM_021795 ELK4,ELK4 EXON Missense_V313I,Missense_V313I exm142550 1 205589455 [A/G] NM_001973,NM_021795 ELK4,ELK4 EXON Missense_T240I,Missense_T240I exm1748104 1 205589788 [A/G] NM_001973,NM_021795 ELK4,ELK4 EXON Missense_P129L,Missense_P129L exm142578 1 205592925 [T/C] NM_001973,NM_021795 ELK4,ELK4 EXON Missense_N29S,Missense_N29S exm142591 1 205628442 [T/C] NM_033102 SLC45A3 EXON Missense_A528T exm142595 1 205628550 [C/G] NM_033102 SLC45A3 EXON Missense_L492V exm142597 1 205628568 [A/G] NM_033102 SLC45A3 EXON Missense_R486W exm142599 1 205628573 [A/G] NM_033102 SLC45A3 EXON Missense_P484L exm142605 1 205628616 [T/C] NM_033102 SLC45A3 EXON Missense_V470I exm142608 1 205628648 [A/G] NM_033102 SLC45A3 EXON Missense_A459V exm142615 1 205628780 [T/C] NM_033102 SLC45A3 EXON Missense_R415Q exm142623 1 205631084 [T/C] NM_033102 SLC45A3 EXON Missense_V377M exm142626 1 205631132 [T/C] NM_033102 SLC45A3 EXON Missense_A361T exm142632 1 205631176 [A/C] NM_033102 SLC45A3 EXON Missense_V346G exm142638 1 205631965 [T/A] NM_033102 SLC45A3 EXON Missense_D318E exm142642 1 205632033 [T/C] NM_033102 SLC45A3 EXON Missense_V296M exm142647 1 205632093 [T/C] NM_033102 SLC45A3 EXON Missense_V276M exm1748119 1 205632094 [A/G] NM_033102 SLC45A3 EXON Synonymous_F275F exm142668 1 205632458 [A/G] NM_033102 SLC45A3 EXON Missense_P154L exm142670 1 205632582 [C/G] NM_033102 SLC45A3 EXON Missense_L113V exm142673 1 205632663 [A/G] NM_033102 SLC45A3 EXON Missense_R86W exm142681 1 205633685 [T/C] NM_033102 SLC45A3 EXON Missense_A34T exm1748128 1 205633751 [A/G] NM_033102 SLC45A3 EXON Missense_R12W exm-rs12748961 1 205676263 [T/C] exm-rs823128 1 205713378 [A/G] NM_022731 NUCKS1 Silent exm142718 1 205739558 [T/C] NM_001135663,NM_003929,NM_001135662,NM_001135664 RAB7L1,RAB7L1,RAB7L1,RAB7L1 EXON Missense_R151K,Missense_R175K,Missense_R175K,Missense_R103K exm142720 1 205739907 [T/G] NM_001135663,NM_003929,NM_001135662,NM_001135664 RAB7L1,RAB7L1,RAB7L1,RAB7L1 EXON Missense_T128P,Missense_T152P,Missense_T152P,Missense_T80P exm142728 1 205740668 [G/C] NM_001135663,NM_003929,NM_001135662,NM_001135664 RAB7L1,RAB7L1,RAB7L1,RAB7L1 EXON Missense_Q80E,Missense_Q104E,Missense_Q104E,Missense_Q32E exm-rs947211 1 205752665 [A/G] exm142747 1 205764035 [A/G] NM_173854 SLC41A1 EXON Missense_I440T exm-rs823156 1 205764640 [A/G] NM_173854 SLC41A1 Silent exm142765 1 205767816 [A/C] NM_173854 SLC41A1 EXON Missense_W275C exm2259935 1 205773652 [T/C] NM_173854 SLC41A1 Silent exm142793 1 205779431 [T/C] NM_173854 SLC41A1 EXON Missense_V47I exm142801 1 205779542 [T/C] NM_173854 SLC41A1 EXON Missense_V10I exm2273741 1 205779560 [T/C] NM_173854 SLC41A1 EXON Missense_K4E exm2250506 1 205792836 [T/C] exm142809 1 205797858 [T/G] NM_152491 PM20D1 EXON Missense_N467H exm142814 1 205799454 [A/T] NM_152491 PM20D1 EXON Missense_I447F exm142825 1 205801872 [A/G] NM_152491 PM20D1 EXON Missense_I380T exm142827 1 205801881 [A/G] NM_152491 PM20D1 EXON Missense_T377M exm142830 1 205810947 [T/C] NM_152491 PM20D1 EXON Missense_G346R exm142840 1 205811865 [T/G] NM_152491 PM20D1 EXON Missense_P281Q exm142841 1 205812795 [T/C] NM_152491 PM20D1 EXON Missense_R276Q exm142843 1 205812879 [A/G] NM_152491 PM20D1 EXON Missense_M248T exm142845 1 205812912 [A/G] NM_152491 PM20D1 EXON Missense_I237T exm142851 1 205813270 [T/C] NM_152491 PM20D1 EXON Missense_E218K exm142860 1 205813329 [T/G] NM_152491 PM20D1 EXON Missense_A198D exm142861 1 205813330 [T/C] NM_152491 PM20D1 EXON Missense_A198T exm142862 1 205813976 [T/C] NM_152491 PM20D1 EXON Missense_R180Q exm142865 1 205813995 [A/T] NM_152491 PM20D1 EXON Missense_I174F exm142867 1 205814470 [T/C] NM_152491 PM20D1 EXON Missense_D158N exm142869 1 205814485 [A/G] NM_152491 PM20D1 EXON Missense_R153W exm142870 1 205814497 [T/C] NM_152491 PM20D1 EXON Missense_I149V exm142876 1 205814644 [A/C] NM_152491 PM20D1 EXON Missense_V100F exm142893 1 205819116 [T/C] NM_152491 PM20D1 EXON Missense_R29G exm142898 1 205884039 [A/G] NM_052934,NM_134325 SLC26A9,SLC26A9 EXON Silent,Missense_V882A exm142906 1 205884138 [T/C] NM_052934,NM_134325 SLC26A9,SLC26A9 EXON Silent,Missense_R849Q exm142917 1 205884274 [T/C] NM_052934,NM_134325 SLC26A9,SLC26A9 EXON Silent,Missense_R804G exm142918 1 205884282 [T/G] NM_052934,NM_134325 SLC26A9,SLC26A9 EXON Silent,Missense_Y801S exm2232347 1 205884492 [A/G] NM_052934,NM_134325 SLC26A9,SLC26A9 EXON Missense_A790V,Missense_A790V exm142923 1 205884508 [T/C] NM_052934,NM_134325 SLC26A9,SLC26A9 EXON Missense_A785T,Missense_A785T exm142936 1 205887981 [T/C] NM_052934,NM_134325 SLC26A9,SLC26A9 EXON Missense_H748R,Missense_H748R exm142937 1 205887994 [T/C] NM_052934,NM_134325 SLC26A9,SLC26A9 EXON Missense_V744M,Missense_V744M exm142964 1 205890932 [A/G] NM_052934,NM_134325 SLC26A9,SLC26A9 EXON Missense_P606L,Missense_P606L exm142970 1 205892250 [T/C] NM_052934,NM_134325 SLC26A9,SLC26A9 EXON Missense_R578K,Missense_R578K exm142971 1 205892259 [T/C] NM_052934,NM_134325 SLC26A9,SLC26A9 EXON Missense_R575Q,Missense_R575Q exm142972 1 205892260 [A/G] NM_052934,NM_134325 SLC26A9,SLC26A9 EXON Missense_R575W,Missense_R575W exm142978 1 205892736 [T/C] NM_052934,NM_134325 SLC26A9,SLC26A9 EXON Missense_N501S,Missense_N501S exm142979 1 205893512 [A/G] NM_052934,NM_134325 SLC26A9,SLC26A9 EXON Missense_F499L,Missense_F499L exm142991 1 205895703 [T/G] NM_052934,NM_134325 SLC26A9,SLC26A9 EXON Missense_T450N,Missense_T450N exm-rs11240594 1 205896235 [A/G] NM_052934,NM_134325 SLC26A9,SLC26A9 Silent,Silent exm142994 1 205896395 [G/C] NM_052934,NM_134325 SLC26A9,SLC26A9 EXON Missense_L413V,Missense_L413V exm1748281 1 205897047 [T/C] NM_052934,NM_134325 SLC26A9,SLC26A9 EXON Missense_D362N,Missense_D362N exm143005 1 205897104 [T/C] NM_052934,NM_134325 SLC26A9,SLC26A9 EXON Missense_V343M,Missense_V343M exm1748283 1 205897130 [A/G] NM_052934,NM_134325 SLC26A9,SLC26A9 EXON Missense_I334T,Missense_I334T exm143024 1 205898454 [A/G] NM_052934,NM_134325 SLC26A9,SLC26A9 EXON Missense_H250Y,Missense_H250Y exm143036 1 205901026 [T/C] NM_052934,NM_134325 SLC26A9,SLC26A9 EXON Missense_V172M,Missense_V172M exm143038 1 205901061 [A/G] NM_052934,NM_134325 SLC26A9,SLC26A9 EXON Missense_V160A,Missense_V160A exm2250508 1 205901102 [T/C] NM_052934,NM_134325 SLC26A9,SLC26A9 EXON Synonymous_S146S,Synonymous_S146S exm143042 1 205901152 [T/C] NM_052934,NM_134325 SLC26A9,SLC26A9 EXON Missense_V130I,Missense_V130I exm143054 1 205902109 [T/C] NM_052934,NM_134325 SLC26A9,SLC26A9 EXON Missense_G77S,Missense_G77S exm143055 1 205902130 [A/T] NM_052934,NM_134325 SLC26A9,SLC26A9 EXON Missense_Y70N,Missense_Y70N exm143062 1 205904888 [T/C] NM_052934,NM_134325 SLC26A9,SLC26A9 EXON Missense_D21N,Missense_D21N exm143066 1 205904942 [C/G] NM_052934,NM_134325 SLC26A9,SLC26A9 EXON Missense_Q3E,Missense_Q3E exm2232349 1 206224453 [T/C] NM_000707 AVPR1B EXON Missense_P5S exm1748311 1 206224469 [A/G] NM_000707 AVPR1B EXON Missense_N10S exm143079 1 206224480 [T/C] NM_000707 AVPR1B EXON Missense_R14W exm143091 1 206224657 [A/G] NM_000707 AVPR1B EXON Missense_V73M exm143093 1 206224691 [T/C] NM_000707 AVPR1B EXON Missense_A84V exm143099 1 206224804 [T/A] NM_000707 AVPR1B EXON Missense_T122S exm143105 1 206224854 [A/C] NM_000707 AVPR1B EXON Missense_H138Q exm143109 1 206224999 [T/C] NM_000707 AVPR1B EXON Missense_W187R exm143110 1 206225011 [C/G] NM_000707 AVPR1B EXON Missense_G191R exm143120 1 206225239 [A/G] NM_000707 AVPR1B EXON Missense_S267G exm143121 1 206225261 [A/G] NM_000707 AVPR1B EXON Missense_R274Q exm143126 1 206225341 [G/C] NM_000707 AVPR1B EXON Missense_Q301E exm143128 1 206225377 [A/G] NM_000707 AVPR1B EXON Missense_E313K exm143130 1 206230844 [T/C] NM_000707 AVPR1B EXON Missense_L326S exm143158 1 206239549 [T/C] NM_001007544 C1orf186 EXON Missense_V117I exm143161 1 206240169 [A/C] NM_001007544 C1orf186 EXON Missense_L95V exm143164 1 206241553 [A/G] NM_001007544 C1orf186 EXON Missense_M79T exm143170 1 206241650 [T/C] NM_001007544 C1orf186 EXON Missense_A47T exm2265075 1 206302435 [A/G] exm143185 1 206317643 [A/T] NM_148964,NM_001910 CTSE,CTSE EXON Missense_R23W,Missense_R23W exm143191 1 206318351 [T/C] NM_148964,NM_001910 CTSE,CTSE EXON Missense_R37W,Missense_R37W exm143193 1 206318365 [T/G] NM_148964,NM_001910 CTSE,CTSE EXON Missense_Q41H,Missense_Q41H exm143219 1 206320300 [T/C] NM_148964,NM_001910 CTSE,CTSE EXON Missense_I148T,Missense_I148T exm143225 1 206325253 [A/G] NM_148964,NM_001910 CTSE,CTSE EXON Missense_V160M,Missense_V160M exm143226 1 206325259 [A/G] NM_148964,NM_001910 CTSE,CTSE EXON Missense_G162S,Missense_G162S exm1748349 1 206325277 [A/G] NM_148964,NM_001910 CTSE,CTSE EXON Missense_S168G,Missense_S168G exm143227 1 206325337 [A/G] NM_148964,NM_001910 CTSE,CTSE EXON Missense_G188R,Missense_G188R exm143239 1 206327553 [T/G] NM_148964,NM_001910 CTSE,CTSE EXON Missense_V248F,Missense_V248F exm143244 1 206327598 [T/C] NM_148964,NM_001910 CTSE,CTSE Silent,Silent exm143246 1 206328753 [A/G] NM_148964,NM_001910 CTSE,CTSE EXON Silent,Missense_E274K exm1748358 1 206328835 [T/C] NM_148964,NM_001910 CTSE,CTSE EXON Silent,Missense_I301T exm143252 1 206328987 [A/G] NM_148964,NM_001910 CTSE,CTSE EXON Missense_T271A,Missense_N318S exm143254 1 206329051 [T/C] NM_148964,NM_001910 CTSE,CTSE EXON Missense_T292I,Synonymous_Y339Y exm1748365 1 206329053 [A/C] NM_148964,NM_001910 CTSE,CTSE EXON Missense_P293T,Missense_T340N exm143255 1 206331027 [A/G] NM_148964,NM_001910 CTSE,CTSE EXON Synonymous_S297S,Missense_V345M exm2277019 1 206331157 [G/C] NM_148964,NM_001910 CTSE,CTSE EXON Missense_V341L,Missense_R388P exm143263 1 206331169 [T/C] NM_148964,NM_001910 CTSE,CTSE EXON Missense_P345S,Missense_A392V exm143265 1 206331190 [A/G] NM_148964,NM_001910 CTSE,CTSE EXON Missense_G352R,Silent exm143266 1 206331193 [T/C] NM_148964,NM_001910 CTSE,CTSE EXON Missense_P353S,Silent exm143274 1 206516335 [T/C] NM_001271870,NM_001170637,NM_001271872,NM_015326 SRGAP2B,SRGAP2,SRGAP2C,SRGAP2 EXON Nonsense_R46X,Nonsense_R46X,Nonsense_R46X,Nonsense_R46X exm143276 1 206516364 [T/C] NM_001271870,NM_001170637,NM_001271872,NM_015326 SRGAP2B,SRGAP2,SRGAP2C,SRGAP2 Silent,Silent,Silent,Silent exm143290 1 206566940 [T/C] NM_001271870,NM_001170637,NM_001271872,NM_015326,NM_001271887 SRGAP2B,SRGAP2,SRGAP2C,SRGAP2,SRGAP2D EXON Nonsense_Q161X,Nonsense_Q161X,Nonsense_Q161X,Nonsense_Q161X,Synonymous_I94I exm143292 1 206566947 [T/C] NM_001271870,NM_001170637,NM_001271872,NM_015326,NM_001271887 SRGAP2B,SRGAP2,SRGAP2C,SRGAP2,SRGAP2D EXON Missense_P163L,Missense_P163L,Missense_P163L,Missense_P163L,Missense_R97W exm143308 1 206603535 [A/G] NM_001170637,NM_015326 SRGAP2,SRGAP2 EXON Missense_G419S,Missense_G420S exm143319 1 206619478 [T/C] NM_001170637,NM_015326 SRGAP2,SRGAP2 EXON Missense_R557W,Missense_R558W exm143320 1 206619487 [A/G] NM_001170637,NM_015326 SRGAP2,SRGAP2 EXON Missense_A560T,Missense_A561T exm143322 1 206619502 [A/G] NM_001170637,NM_015326 SRGAP2,SRGAP2 EXON Missense_R565G,Missense_R566G exm143323 1 206619526 [T/C] NM_001170637,NM_015326 SRGAP2,SRGAP2 EXON Missense_P573S,Missense_P574S exm2232353 1 206623737 [T/C] NM_001170637,NM_015326 SRGAP2,SRGAP2 EXON Missense_P615S,Missense_P616S exm143331 1 206623786 [A/G] NM_001170637,NM_015326 SRGAP2,SRGAP2 EXON Missense_R631H,Missense_R632H exm143332 1 206623809 [T/C] NM_001170637,NM_015326 SRGAP2,SRGAP2 EXON Nonsense_R639X,Nonsense_R640X exm143334 1 206626547 [A/G] NM_001170637,NM_015326 SRGAP2,SRGAP2 EXON Missense_M640V,Missense_M641V exm143335 1 206626559 [T/C] NM_001170637,NM_015326 SRGAP2,SRGAP2 EXON Nonsense_R644X,Nonsense_R645X exm143340 1 206626607 [A/G] NM_001170637,NM_015326 SRGAP2,SRGAP2 EXON Missense_V660I,Missense_V661I exm143361 1 206634405 [A/G] NM_001170637,NM_015326 SRGAP2,SRGAP2 EXON Missense_G865S,Missense_G866S exm143363 1 206634429 [A/G] NM_001170637,NM_015326 SRGAP2,SRGAP2 EXON Missense_R873G,Missense_R874G exm143367 1 206634463 [A/G] NM_001170637,NM_015326 SRGAP2,SRGAP2 EXON Missense_R884H,Missense_R885H exm143375 1 206634610 [A/G] NM_001170637,NM_015326 SRGAP2,SRGAP2 EXON Missense_R933H,Missense_R934H exm143380 1 206634648 [A/G] NM_001170637,NM_015326 SRGAP2,SRGAP2 EXON Missense_G946S,Missense_G947S exm143382 1 206634709 [T/C] NM_001170637,NM_015326 SRGAP2,SRGAP2 EXON Missense_P966L,Missense_P967L exm143402 1 206647800 [A/G] NM_001193322,NM_014002,NM_001193321 IKBKE,IKBKE,IKBKE EXON Missense_A72T,Missense_A72T,Silent exm143407 1 206648217 [T/C] NM_001193322,NM_014002,NM_001193321 IKBKE,IKBKE,IKBKE EXON Missense_R80W,Missense_R80W,Silent exm143428 1 206650040 [A/G] NM_001193322,NM_014002,NM_001193321 IKBKE,IKBKE,IKBKE EXON Missense_R187Q,Missense_R187Q,Missense_R102Q exm143459 1 206652423 [A/G] NM_001193322,NM_014002,NM_001193321 IKBKE,IKBKE,IKBKE EXON Missense_S377N,Missense_S377N,Missense_S292N exm143463 1 206652475 [T/C] NM_001193322,NM_014002,NM_001193321 IKBKE,IKBKE,IKBKE EXON Synonymous_D394D,Synonymous_D394D,Synonymous_D309D exm143470 1 206653368 [A/G] NM_001193322,NM_014002,NM_001193321 IKBKE,IKBKE,IKBKE EXON Missense_V418M,Missense_V418M,Missense_V333M exm143476 1 206653438 [A/G] NM_001193322,NM_014002,NM_001193321 IKBKE,IKBKE,IKBKE EXON Missense_R441Q,Missense_R441Q,Missense_R356Q exm143479 1 206653842 [T/C] NM_001193322,NM_014002,NM_001193321 IKBKE,IKBKE,IKBKE EXON Missense_L465F,Missense_L465F,Missense_L380F exm143482 1 206653876 [A/G] NM_001193322,NM_014002,NM_001193321 IKBKE,IKBKE,IKBKE EXON Missense_R476K,Missense_R476K,Missense_R391K exm143486 1 206658354 [T/C] NM_001193322,NM_014002,NM_001193321 IKBKE,IKBKE,IKBKE EXON Missense_T483M,Missense_T483M,Missense_T398M exm143493 1 206658621 [T/G] NM_001193322,NM_014002,NM_001193321 IKBKE,IKBKE,IKBKE EXON Missense_D532Y,Missense_D532Y,Missense_D447Y exm143495 1 206661263 [T/G] NM_001193322,NM_014002,NM_001193321 IKBKE,IKBKE,IKBKE EXON Missense_I543M,Missense_I543M,Missense_I458M exm143506 1 206665036 [A/G] NM_001193322,NM_014002,NM_001193321 IKBKE,IKBKE,IKBKE EXON Missense_V597M,Missense_V597M,Missense_V512M exm143507 1 206665039 [A/C] NM_001193322,NM_014002,NM_001193321 IKBKE,IKBKE,IKBKE EXON Missense_Q598K,Missense_Q598K,Missense_Q513K exm143508 1 206665052 [T/C] NM_001193322,NM_014002,NM_001193321 IKBKE,IKBKE,IKBKE EXON Missense_A602V,Missense_A602V,Missense_A517V exm143524 1 206666377 [A/C] NM_001193322,NM_014002,NM_001193321 IKBKE,IKBKE,IKBKE EXON Missense_N619K,Missense_N619K,Missense_N534K exm143531 1 206667306 [A/G] NM_001193322,NM_014002,NM_001193321 IKBKE,IKBKE,IKBKE EXON Silent,Missense_N700S,Missense_N615S exm143535 1 206669465 [T/C] NM_001193322,NM_014002,NM_001193321 IKBKE,IKBKE,IKBKE EXON Silent,Missense_P713L,Missense_P628L exm143549 1 206681383 [T/C] NM_182663,NM_182664 RASSF5,RASSF5 EXON Missense_R150C,Missense_R150C exm143555 1 206711608 [A/G] NM_182663,NM_182664 RASSF5,RASSF5 EXON Missense_V189M,Missense_V189M exm143564 1 206757768 [T/G] NM_182663,NM_182664,NM_182665 RASSF5,RASSF5,RASSF5 EXON Missense_R247L,Missense_R247L,Missense_R94L exm143570 1 206757849 [T/C] NM_182663,NM_182664,NM_182665 RASSF5,RASSF5,RASSF5 EXON Missense_T274M,Missense_T274M,Missense_T121M exm143607 1 206770544 [C/G] NM_001201478,NM_006893 EIF2D,EIF2D EXON Missense_L308V,Missense_L432V exm143610 1 206772388 [T/C] NM_001201478,NM_006893 EIF2D,EIF2D EXON Missense_K297E,Missense_K421E exm143622 1 206773157 [T/G] NM_001201478,NM_006893 EIF2D,EIF2D EXON Missense_Q204K,Missense_Q328K exm143628 1 206773658 [T/C] NM_001201478,NM_006893 EIF2D,EIF2D EXON Missense_E179K,Missense_E303K exm143642 1 206776460 [A/G] NM_001201478,NM_006893 EIF2D,EIF2D EXON Silent,Missense_T210I exm143652 1 206781634 [T/A] NM_001201478,NM_006893 EIF2D,EIF2D EXON Missense_Q126L,Missense_Q126L exm143658 1 206784681 [T/C] NM_001201478,NM_006893 EIF2D,EIF2D EXON Missense_T35A,Missense_T35A exm1748505 1 206811017 [A/G] NM_003582,NM_001004023 DYRK3,DYRK3 EXON Missense_T34A,Missense_T14A exm143674 1 206811042 [A/G] NM_003582,NM_001004023 DYRK3,DYRK3 EXON Missense_K42R,Missense_K22R exm143675 1 206811048 [T/C] NM_003582,NM_001004023 DYRK3,DYRK3 EXON Missense_P44L,Missense_P24L exm1748508 1 206820790 [T/A] NM_003582,NM_001004023 DYRK3,DYRK3 EXON Missense_M83L,Missense_M63L exm143676 1 206820793 [A/G] NM_003582,NM_001004023 DYRK3,DYRK3 EXON Missense_K84E,Missense_K64E exm143679 1 206821032 [T/G] NM_003582,NM_001004023 DYRK3,DYRK3 EXON Missense_I163M,Missense_I143M exm143685 1 206821238 [A/G] NM_003582,NM_001004023 DYRK3,DYRK3 EXON Missense_R232Q,Missense_R212Q exm143689 1 206821285 [T/C] NM_003582,NM_001004023 DYRK3,DYRK3 EXON Missense_R248C,Missense_R228C exm143690 1 206821286 [A/G] NM_003582,NM_001004023 DYRK3,DYRK3 EXON Missense_R248H,Missense_R228H exm143701 1 206821480 [T/C] NM_003582,NM_001004023 DYRK3,DYRK3 EXON Missense_R313C,Missense_R293C exm143703 1 206821533 [T/G] NM_003582,NM_001004023 DYRK3,DYRK3 EXON Missense_K330N,Missense_K310N exm143718 1 206821856 [A/G] NM_003582,NM_001004023 DYRK3,DYRK3 EXON Missense_R438H,Missense_R418H exm143721 1 206821952 [A/G] NM_003582,NM_001004023 DYRK3,DYRK3 EXON Missense_R470H,Missense_R450H exm143726 1 206822264 [A/G] NM_003582,NM_001004023 DYRK3,DYRK3 EXON Missense_N574S,Missense_N554S exm2250511 1 206879122 [T/G] NM_032960,NM_004759 MAPKAPK2,MAPKAPK2 Silent,Silent exm2232362 1 206902154 [C/G] NM_032960,NM_004759 MAPKAPK2,MAPKAPK2 EXON Missense_L127V,Missense_L127V exm143760 1 206903357 [T/C] NM_032960,NM_004759 MAPKAPK2,MAPKAPK2 EXON Missense_I202T,Missense_I202T exm143762 1 206903395 [A/C] NM_032960,NM_004759 MAPKAPK2,MAPKAPK2 EXON Missense_T215P,Missense_T215P exm143785 1 206905223 [T/C] NM_032960,NM_004759 MAPKAPK2,MAPKAPK2 EXON Missense_R340W,Missense_R340W exm143787 1 206905263 [A/G] NM_032960,NM_004759 MAPKAPK2,MAPKAPK2 EXON Missense_K353R,Missense_K353R exm143789 1 206905395 [A/G] NM_032960,NM_004759 MAPKAPK2,MAPKAPK2 EXON Silent,Missense_D358N exm143796 1 206905941 [T/G] NM_032960,NM_004759 MAPKAPK2,MAPKAPK2 EXON Missense_A361S,Silent exm-rs3024505 1 206939904 [A/G] exm-rs3024493 1 206943968 [A/C] NM_000572 IL10 Silent exm143806 1 206944259 [T/C] NM_000572 IL10 EXON Missense_R124Q exm-rs1518111 1 206944645 [T/C] NM_000572 IL10 Silent exm143826 1 206945723 [A/G] NM_000572 IL10 EXON Missense_P20S exm143829 1 206945738 [T/C] NM_000572 IL10 EXON Missense_G15R exm-rs1800871 1 206946634 [A/G] exm143836 1 206972307 [A/C] NM_153758 IL19 EXON Missense_H23P exm143841 1 207010072 [A/G] NM_153758,NM_013371 IL19,IL19 EXON Missense_N60S,Missense_N22S exm143850 1 207014348 [A/G] NM_153758,NM_013371 IL19,IL19 Silent,Silent exm143853 1 207015914 [A/G] NM_153758,NM_013371 IL19,IL19 EXON Missense_D199N,Missense_D161N exm143856 1 207015957 [T/C] NM_153758,NM_013371 IL19,IL19 EXON Missense_F213S,Missense_F175S exm143857 1 207039288 [A/G] NM_018724 IL20 EXON Missense_G31R exm143859 1 207039345 [C/G] NM_018724 IL20 EXON Missense_R50G exm143862 1 207039710 [T/G] NM_018724 IL20 Silent exm143864 1 207039838 [T/C] NM_018724 IL20 EXON Nonsense_R79X exm143866 1 207039923 [A/G] NM_018724 IL20 EXON Missense_R107Q exm143870 1 207040730 [A/G] NM_018724 IL20 EXON Missense_H127R exm143872 1 207041833 [T/C] NM_018724 IL20 EXON Missense_L152P exm143879 1 207071206 [T/C] NM_006850,NM_001185156,NM_001185157,NM_001185158 IL24,IL24,IL24,IL24 EXON Missense_L10P,Missense_L10P,Missense_L10P,Missense_L10P exm143889 1 207072749 [A/G] NM_006850,NM_001185156,NM_001185157,NM_001185158 IL24,IL24,IL24,IL24 EXON Nonsense_W43X,Nonsense_W44X,Nonsense_W44X,Silent exm143896 1 207073701 [T/C] NM_006850,NM_001185156,NM_001185157,NM_001185158 IL24,IL24,IL24,IL24 EXON Missense_S101L,Missense_S102L,Missense_S102L,Missense_R36C exm143903 1 207074905 [T/C] NM_006850,NM_001185156,NM_001185157,NM_001185158 IL24,IL24,IL24,IL24 EXON Missense_Y124H,Missense_Y125H,Silent,Silent exm143904 1 207074909 [A/G] NM_006850,NM_001185156,NM_001185157,NM_001185158 IL24,IL24,IL24,IL24 EXON Missense_H125R,Missense_H126R,Silent,Silent exm143905 1 207074926 [C/G] NM_006850,NM_001185156,NM_001185157,NM_001185158 IL24,IL24,IL24,IL24 EXON Missense_V131L,Missense_V132L,Silent,Silent exm143916 1 207075400 [T/C] NM_006850,NM_001185156,NM_001185157,NM_001185158 IL24,IL24,IL24,IL24 EXON Missense_R174W,Missense_R175W,Missense_R122W,Synonymous_S55S exm143918 1 207076321 [T/G] NM_006850,NM_001185156,NM_001185157,NM_001185158 IL24,IL24,IL24,IL24 EXON Missense_L180V,Missense_L181V,Missense_L128V,Missense_S61R exm143921 1 207076376 [T/C] NM_006850,NM_001185156,NM_001185157,NM_001185158 IL24,IL24,IL24,IL24 EXON Missense_T198I,Missense_T199I,Missense_T146I,Silent exm143927 1 207078372 [T/G] NM_001193338,NM_005449,NM_001142473 FAIM3,FAIM3,FAIM3 EXON Silent,Missense_P389T,Missense_P277T exm143929 1 207078414 [T/C] NM_001193338,NM_005449,NM_001142473 FAIM3,FAIM3,FAIM3 EXON Silent,Missense_A375T,Missense_A263T exm143932 1 207078467 [A/G] NM_001193338,NM_005449,NM_001142473 FAIM3,FAIM3,FAIM3 EXON Silent,Missense_A357V,Missense_A245V exm1748610 1 207083135 [C/G] NM_001193338,NM_005449,NM_001142473 FAIM3,FAIM3,FAIM3 EXON Synonymous_A263A,Missense_R307P,Missense_R195P exm143947 1 207085267 [A/G] NM_001193338,NM_005449,NM_001142473 FAIM3,FAIM3,FAIM3 EXON Missense_P173L,Missense_P173L,Missense_P61L exm143949 1 207086334 [A/G] NM_001193338,NM_005449,NM_001142473 FAIM3,FAIM3,FAIM3 EXON Missense_H143Y,Missense_H143Y,Missense_H31Y exm143958 1 207087230 [A/G] NM_001193338,NM_005449,NM_001142473 FAIM3,FAIM3,FAIM3 EXON Missense_R83C,Missense_R83C,Silent exm143963 1 207087413 [T/C] NM_001193338,NM_005449,NM_001142473 FAIM3,FAIM3,FAIM3 EXON Missense_E22K,Missense_E22K,Silent exm1748637 1 207105843 [C/G] NM_002644 PIGR EXON Missense_V656L exm143990 1 207106478 [A/G] NM_002644 PIGR EXON Missense_A580V exm2250512 1 207107784 [A/G] NM_002644 PIGR EXON Synonymous_V562V exm143999 1 207107798 [T/C] NM_002644 PIGR EXON Missense_V558I exm144005 1 207107939 [T/C] NM_002644 PIGR EXON Missense_E511K exm144013 1 207108056 [T/C] NM_002644 PIGR EXON Missense_A472T exm144023 1 207109005 [T/C] NM_002644 PIGR EXON Missense_E402K exm144025 1 207109041 [A/C] NM_002644 PIGR EXON Missense_A390S exm144027 1 207109071 [T/C] NM_002644 PIGR EXON Missense_S380G exm144028 1 207109104 [T/C] NM_002644 PIGR EXON Missense_V369M exm144029 1 207109116 [T/C] NM_002644 PIGR EXON Missense_G365S exm2232366 1 207109148 [T/C] NM_002644 PIGR EXON Missense_R354H exm144033 1 207110449 [T/C] NM_002644 PIGR EXON Missense_V346I exm2232367 1 207110494 [G/C] NM_002644 PIGR EXON Missense_G331R exm144052 1 207110638 [T/C] NM_002644 PIGR EXON Missense_V283I exm144062 1 207110764 [T/C] NM_002644 PIGR EXON Missense_E241K exm2250513 1 207110936 [T/C] NM_002644 PIGR EXON Synonymous_V183V exm144082 1 207112626 [T/C] NM_002644 PIGR EXON Missense_S76G exm144083 1 207112632 [T/C] NM_002644 PIGR EXON Missense_V74I exm144091 1 207131878 [T/C] NM_032029,NM_001122979,NM_001170631 FCAMR,FCAMR,FCAMR EXON Silent,Silent,Missense_R573G exm144095 1 207133035 [T/C] NM_032029,NM_001122979,NM_001170631 FCAMR,FCAMR,FCAMR EXON Missense_E254K,Missense_E254K,Missense_R521K exm144097 1 207133093 [T/C] NM_032029,NM_001122979,NM_001170631 FCAMR,FCAMR,FCAMR EXON Synonymous_L234L,Synonymous_L234L,Missense_T502A exm144098 1 207133113 [T/C] NM_032029,NM_001122979,NM_001170631 FCAMR,FCAMR,FCAMR EXON Missense_G228R,Missense_G228R,Missense_R495Q exm144100 1 207133127 [A/G] NM_032029,NM_001122979,NM_001170631 FCAMR,FCAMR,FCAMR EXON Missense_M223T,Missense_M223T,Synonymous_D490D exm144104 1 207133774 [T/C] NM_032029,NM_001122979,NM_001170631 FCAMR,FCAMR,FCAMR EXON Silent,Silent,Missense_V483M exm144107 1 207133830 [A/G] NM_032029,NM_001122979,NM_001170631 FCAMR,FCAMR,FCAMR EXON Silent,Silent,Missense_T464I exm144111 1 207133867 [T/G] NM_032029,NM_001122979,NM_001170631 FCAMR,FCAMR,FCAMR EXON Silent,Silent,Missense_L452I exm144114 1 207134104 [T/G] NM_032029,NM_001122979,NM_001170631 FCAMR,FCAMR,FCAMR EXON Silent,Silent,Missense_L373I exm144117 1 207134226 [T/C] NM_032029,NM_001122979,NM_001170631 FCAMR,FCAMR,FCAMR EXON Silent,Silent,Missense_S332N exm144118 1 207134365 [T/C] NM_032029,NM_001122979,NM_001170631 FCAMR,FCAMR,FCAMR EXON Silent,Silent,Missense_A286T exm144122 1 207134410 [T/G] NM_032029,NM_001122979,NM_001170631 FCAMR,FCAMR,FCAMR EXON Silent,Silent,Missense_T271P exm144134 1 207135670 [A/C] NM_032029,NM_001122979,NM_001170631 FCAMR,FCAMR,FCAMR EXON Missense_L180F,Missense_L180F,Missense_L180F exm144140 1 207135723 [A/G] NM_032029,NM_001122979,NM_001170631 FCAMR,FCAMR,FCAMR EXON Missense_H163Y,Missense_H163Y,Missense_H163Y exm144142 1 207135752 [T/C] NM_032029,NM_001122979,NM_001170631 FCAMR,FCAMR,FCAMR EXON Missense_Q153R,Missense_Q153R,Missense_Q153R exm144145 1 207135810 [T/C] NM_032029,NM_001122979,NM_001170631 FCAMR,FCAMR,FCAMR EXON Missense_V134I,Missense_V134I,Missense_V134I exm144146 1 207135812 [T/G] NM_032029,NM_001122979,NM_001170631 FCAMR,FCAMR,FCAMR EXON Missense_S133Y,Missense_S133Y,Missense_S133Y exm144147 1 207135828 [A/G] NM_032029,NM_001122979,NM_001170631 FCAMR,FCAMR,FCAMR EXON Missense_H128Y,Missense_H128Y,Missense_H128Y exm144155 1 207139123 [A/G] NM_032029,NM_001122979,NM_001170631 FCAMR,FCAMR,FCAMR EXON Missense_R84W,Missense_R84W,Missense_R84W exm144165 1 207140447 [T/C] NM_032029,NM_001122979,NM_001170631 FCAMR,FCAMR,FCAMR EXON Missense_R40K,Missense_R40K,Missense_R40K exm144176 1 207195352 [T/C] NM_001083924,NM_023938 C1orf116,C1orf116 EXON Missense_N340S,Missense_N586S exm144183 1 207195437 [A/G] NM_001083924,NM_023938 C1orf116,C1orf116 EXON Missense_R312C,Missense_R558C exm144189 1 207195520 [A/G] NM_001083924,NM_023938 C1orf116,C1orf116 EXON Missense_P284L,Missense_P530L exm144190 1 207195529 [T/C] NM_001083924,NM_023938 C1orf116,C1orf116 EXON Missense_R281Q,Missense_R527Q exm144193 1 207195568 [A/G] NM_001083924,NM_023938 C1orf116,C1orf116 EXON Missense_F268S,Missense_F514S exm144196 1 207195610 [T/G] NM_001083924,NM_023938 C1orf116,C1orf116 EXON Missense_D254A,Missense_D500A exm2232372 1 207195632 [T/C] NM_001083924,NM_023938 C1orf116,C1orf116 EXON Missense_S247G,Missense_S493G exm2250515 1 207195633 [A/G] NM_001083924,NM_023938 C1orf116,C1orf116 EXON Synonymous_S246S,Synonymous_S492S exm144199 1 207195652 [T/C] NM_001083924,NM_023938 C1orf116,C1orf116 EXON Missense_R240H,Missense_R486H exm144203 1 207195779 [A/G] NM_001083924,NM_023938 C1orf116,C1orf116 EXON Missense_S198P,Missense_S444P exm144204 1 207195808 [T/C] NM_001083924,NM_023938 C1orf116,C1orf116 EXON Missense_N188S,Missense_N434S exm144205 1 207195868 [A/G] NM_001083924,NM_023938 C1orf116,C1orf116 EXON Missense_P168L,Missense_P414L exm144214 1 207196028 [G/C] NM_001083924,NM_023938 C1orf116,C1orf116 EXON Missense_D115H,Missense_D361H exm144224 1 207196223 [A/G] NM_001083924,NM_023938 C1orf116,C1orf116 EXON Missense_P50S,Missense_P296S exm144226 1 207196253 [A/G] NM_001083924,NM_023938 C1orf116,C1orf116 EXON Missense_P40S,Missense_P286S exm144228 1 207196337 [T/C] NM_001083924,NM_023938 C1orf116,C1orf116 EXON Missense_R12G,Missense_R258G exm144233 1 207196405 [T/C] NM_001083924,NM_023938 C1orf116,C1orf116 EXON Silent,Missense_S235N exm1748699 1 207196454 [T/C] NM_001083924,NM_023938 C1orf116,C1orf116 EXON Silent,Missense_E219K exm144238 1 207196496 [A/G] NM_001083924,NM_023938 C1orf116,C1orf116 EXON Silent,Missense_R205W exm144241 1 207196544 [T/C] NM_001083924,NM_023938 C1orf116,C1orf116 EXON Silent,Missense_A189T exm144246 1 207196598 [T/C] NM_001083924,NM_023938 C1orf116,C1orf116 EXON Silent,Missense_E171K exm144248 1 207196639 [T/G] NM_001083924,NM_023938 C1orf116,C1orf116 EXON Silent,Missense_N157T exm144250 1 207196757 [A/G] NM_001083924,NM_023938 C1orf116,C1orf116 EXON Silent,Missense_H118Y exm144251 1 207196760 [A/G] NM_001083924,NM_023938 C1orf116,C1orf116 EXON Silent,Missense_S117P exm144254 1 207196790 [T/C] NM_001083924,NM_023938 C1orf116,C1orf116 EXON Silent,Missense_T107A exm144255 1 207196817 [T/C] NM_001083924,NM_023938 C1orf116,C1orf116 EXON Silent,Missense_E98K exm144256 1 207198235 [A/G] NM_001083924,NM_023938 C1orf116,C1orf116 EXON Silent,Missense_R94W exm144263 1 207198313 [T/C] NM_001083924,NM_023938 C1orf116,C1orf116 EXON Silent,Missense_G68R exm144274 1 207200895 [T/A] NM_001083924,NM_023938 C1orf116,C1orf116 EXON Silent,Missense_T17S exm144277 1 207200929 [G/C] NM_001083924,NM_023938 C1orf116,C1orf116 EXON Silent,Missense_E5D exm144280 1 207222375 [C/G] NM_018566,NM_001276320 YOD1,YOD1 EXON Missense_G346A,Missense_G302A exm144281 1 207222381 [T/C] NM_018566,NM_001276320 YOD1,YOD1 EXON Missense_N344S,Missense_N300S exm144288 1 207222471 [T/C] NM_018566,NM_001276320 YOD1,YOD1 EXON Missense_N314S,Missense_N270S exm2250516 1 207223055 [A/G] NM_018566,NM_001276320 YOD1,YOD1 EXON Synonymous_I119I,Synonymous_I75I exm144315 1 207228098 [C/G] NM_001018053,NM_006212 PFKFB2,PFKFB2 EXON Missense_N12K,Missense_N12K exm144318 1 207235372 [A/G] NM_001018053,NM_006212 PFKFB2,PFKFB2 EXON Missense_V54M,Missense_V54M exm144337 1 207238478 [A/G] NM_001018053,NM_006212 PFKFB2,PFKFB2 EXON Missense_R202Q,Missense_R202Q exm144354 1 207241655 [A/G] NM_001018053,NM_006212 PFKFB2,PFKFB2 Silent,Silent exm144364 1 207244554 [A/G] NM_001018053,NM_006212 PFKFB2,PFKFB2 EXON Missense_C415Y,Missense_C415Y exm144371 1 207245613 [A/G] NM_001018053,NM_006212 PFKFB2,PFKFB2 EXON Silent,Missense_S472N exm144372 1 207245616 [T/C] NM_001018053,NM_006212 PFKFB2,PFKFB2 EXON Silent,Missense_S473L exm144374 1 207245684 [T/C] NM_001018053,NM_006212 PFKFB2,PFKFB2 EXON Silent,Missense_R496C exm144380 1 207252329 [T/C] NM_001018053 PFKFB2 EXON Missense_R461C exm144381 1 207252330 [A/G] NM_001018053 PFKFB2 EXON Missense_R461H exm144390 1 207262911 [T/C] NM_001017366,NM_001017365,NM_001017364,NM_000716,NM_001017367 C4BPB,C4BPB,C4BPB,C4BPB,C4BPB EXON Missense_A12V,Missense_A12V,Missense_A12V,Missense_A12V,Missense_A12V exm144403 1 207265060 [A/C] NM_001017366,NM_001017365,NM_001017364,NM_000716,NM_001017367 C4BPB,C4BPB,C4BPB,C4BPB,C4BPB EXON Missense_K101Q,Missense_K102Q,Missense_K101Q,Missense_K102Q,Missense_K102Q exm-rs3813948 1 207269858 [T/C] NM_001017366,NM_001017365,NM_001017364,NM_000716,NM_001017367 C4BPB,C4BPB,C4BPB,C4BPB,C4BPB Silent,Silent,Silent,Silent,Silent exm144418 1 207271511 [A/G] NM_001017366,NM_001017365,NM_001017364,NM_000716,NM_001017367 C4BPB,C4BPB,C4BPB,C4BPB,C4BPB EXON Missense_V173M,Missense_V174M,Missense_V173M,Missense_V174M,Missense_V174M exm144423 1 207271587 [A/C] NM_001017366,NM_001017365,NM_001017364,NM_000716,NM_001017367 C4BPB,C4BPB,C4BPB,C4BPB,C4BPB EXON Missense_K198T,Missense_K199T,Missense_K198T,Missense_K199T,Missense_K199T exm144429 1 207273209 [A/G] NM_001017366,NM_001017365,NM_001017364,NM_000716,NM_001017367 C4BPB,C4BPB,C4BPB,C4BPB,C4BPB EXON Missense_T231A,Missense_T232A,Missense_T231A,Missense_T232A,Missense_T232A exm144432 1 207286380 [G/C] NM_000715 C4BPA EXON Missense_P4A exm144433 1 207286381 [A/C] NM_000715 C4BPA EXON Missense_P4Q exm144438 1 207286467 [C/G] NM_000715 C4BPA EXON Missense_L33V exm144440 1 207287481 [T/C] NM_000715 C4BPA EXON Missense_A60V exm144449 1 207287603 [A/G] NM_000715 C4BPA EXON Missense_E101K exm144466 1 207297621 [T/C] NM_000715 C4BPA EXON Missense_R206C exm144467 1 207297622 [A/G] NM_000715 C4BPA EXON Missense_R206H exm144473 1 207300070 [A/G] NM_000715 C4BPA EXON Missense_R240H exm144486 1 207304980 [G/C] NM_000715 C4BPA EXON Missense_V327L exm144487 1 207304993 [A/G] NM_000715 C4BPA EXON Missense_R331H exm144499 1 207307932 [A/G] NM_000715 C4BPA EXON Missense_G423E exm144502 1 207317172 [A/G] NM_000715 C4BPA EXON Missense_R485Q exm144508 1 207317935 [T/C] NM_000715 C4BPA EXON Missense_M556T exm144514 1 207495871 [T/G] NM_001114752,NM_000574 CD55,CD55 EXON Missense_L82R,Missense_L82R exm144524 1 207498973 [T/C] NM_001114752,NM_000574 CD55,CD55 EXON Missense_S162L,Missense_S162L exm1748807 1 207504467 [C/G] NM_001114752,NM_000574 CD55,CD55 EXON Missense_A227P,Missense_A227P exm144531 1 207504479 [A/G] NM_001114752,NM_000574 CD55,CD55 EXON Missense_I231V,Missense_I231V exm144548 1 207510691 [A/G] NM_001114752,NM_000574 CD55,CD55 EXON Missense_V333I,Missense_V333I exm144549 1 207510725 [T/C] NM_001114752,NM_000574 CD55,CD55 EXON Missense_T344I,Missense_T344I exm144550 1 207510733 [A/G] NM_001114752,NM_000574 CD55,CD55 EXON Missense_K347E,Missense_K347E exm2232377 1 207512742 [G/C] NM_001114752,NM_000574 CD55,CD55 EXON Missense_G354A,Missense_G354A exm2250517 1 207535246 [A/C] exm144577 1 207639979 [A/G] NM_001877,NM_001006658 CR2,CR2 EXON Missense_R56H,Missense_R56H exm2232378 1 207640012 [G/C] NM_001877,NM_001006658 CR2,CR2 EXON Missense_T67S,Missense_T67S exm144579 1 207640054 [A/G] NM_001877,NM_001006658 CR2,CR2 EXON Missense_K81R,Missense_K81R exm144594 1 207641950 [T/C] NM_001877,NM_001006658 CR2,CR2 EXON Missense_P175L,Missense_P175L exm144602 1 207642151 [A/G] NM_001877,NM_001006658 CR2,CR2 EXON Missense_R214H,Missense_R214H exm144603 1 207642168 [T/C] NM_001877,NM_001006658 CR2,CR2 EXON Nonsense_R220X,Nonsense_R220X exm144612 1 207642500 [A/G] NM_001877,NM_001006658 CR2,CR2 EXON Missense_R247Q,Missense_R247Q exm144617 1 207643142 [T/C] NM_001877,NM_001006658 CR2,CR2 EXON Missense_P307L,Missense_P307L exm144618 1 207643192 [T/C] NM_001877,NM_001006658 CR2,CR2 EXON Missense_R324C,Missense_R324C exm1748837 1 207643295 [A/G] NM_001877,NM_001006658 CR2,CR2 EXON Missense_R358K,Missense_R358K exm144630 1 207643316 [A/G] NM_001877,NM_001006658 CR2,CR2 EXON Missense_Q365R,Missense_Q365R exm144631 1 207643339 [A/G] NM_001877,NM_001006658 CR2,CR2 EXON Missense_D373N,Missense_D373N exm144632 1 207643362 [A/G] NM_001877,NM_001006658 CR2,CR2 EXON Missense_M380I,Missense_M380I exm144647 1 207644249 [T/C] NM_001877,NM_001006658 CR2,CR2 EXON Missense_P464S,Missense_P464S exm144653 1 207644414 [A/G] NM_001877,NM_001006658 CR2,CR2 EXON Missense_N492S,Missense_N492S exm144655 1 207644786 [T/A] NM_001877,NM_001006658 CR2,CR2 EXON Missense_S504R,Missense_S504R exm144660 1 207646168 [T/G] NM_001877,NM_001006658 CR2,CR2 EXON Missense_S541I,Missense_S541I exm144665 1 207646222 [A/G] NM_001877,NM_001006658 CR2,CR2 EXON Missense_G559E,Missense_G559E exm144675 1 207646462 [A/G] NM_001877,NM_001006658 CR2,CR2 EXON Missense_S639N,Missense_S639N exm144676 1 207646477 [A/G] NM_001877,NM_001006658 CR2,CR2 EXON Missense_C644Y,Missense_C644Y exm144679 1 207646898 [T/C] NM_001877,NM_001006658 CR2,CR2 EXON Silent,Missense_S663P exm144681 1 207646923 [A/G] NM_001877,NM_001006658 CR2,CR2 EXON Silent,Missense_R671H exm144683 1 207646941 [T/C] NM_001877,NM_001006658 CR2,CR2 EXON Silent,Missense_T677M exm144699 1 207647643 [A/G] NM_001877,NM_001006658 CR2,CR2 EXON Nonsense_W707X,Nonsense_W766X exm144714 1 207648499 [A/G] NM_001877,NM_001006658 CR2,CR2 EXON Missense_R826H,Missense_R885H exm144716 1 207649585 [T/C] NM_001877,NM_001006658 CR2,CR2 EXON Missense_I849T,Missense_I908T exm144720 1 207649609 [T/C] NM_001877,NM_001006658 CR2,CR2 EXON Missense_T857I,Missense_T916I exm144723 1 207649698 [A/G] NM_001877,NM_001006658 CR2,CR2 EXON Missense_V887M,Missense_V946M exm144731 1 207651360 [G/C] NM_001877,NM_001006658 CR2,CR2 EXON Missense_Q952H,Missense_Q1011H exm144732 1 207651374 [T/C] NM_001877,NM_001006658 CR2,CR2 EXON Missense_S957L,Missense_S1016L exm144735 1 207651395 [A/C] NM_001877,NM_001006658 CR2,CR2 EXON Missense_P964H,Missense_P1023H exm-rs17045328 1 207652176 [A/G] NM_001877,NM_001006658 CR2,CR2 Silent,Silent exm144740 1 207653364 [A/G] NM_001877,NM_001006658 CR2,CR2 EXON Missense_I993V,Missense_I1052V exm144743 1 207653395 [A/C] NM_001877,NM_001006658 CR2,CR2 EXON Missense_A1003E,Missense_A1062E exm144744 1 207653397 [T/C] NM_001877,NM_001006658 CR2,CR2 EXON Missense_R1004C,Missense_R1063C exm144750 1 207658871 [A/C] NM_001877,NM_001006658 CR2,CR2 EXON Missense_S1025Y,Missense_S1084Y exm144765 1 207679398 [A/G] NM_000651,NM_000573 CR1,CR1 EXON Missense_V91I,Missense_V91I exm144767 1 207679429 [A/G] NM_000651,NM_000573 CR1,CR1 Silent,Silent exm144777 1 207680154 [A/G] NM_000651,NM_000573 CR1,CR1 EXON Missense_K133E,Missense_K133E exm-rs6656401 1 207692049 [A/G] NM_000651,NM_000573 CR1,CR1 Silent,Silent exm144829 1 207741193 [T/C] NM_000651,NM_000573 CR1,CR1 EXON Missense_V1326A,Missense_V876A exm144874 1 207755285 [A/G] NM_000651,NM_000573 CR1,CR1 EXON Missense_V1747I,Missense_V1297I exm144875 1 207755348 [T/C] NM_000651,NM_000573 CR1,CR1 EXON Missense_H1768Y,Missense_H1318Y exm144887 1 207760772 [A/G] NM_000651,NM_000573 CR1,CR1 EXON Missense_T1858A,Missense_T1408A exm144888 1 207760773 [T/C] NM_000651,NM_000573 CR1,CR1 EXON Missense_T1858M,Missense_T1408M exm144891 1 207760805 [A/G] NM_000651,NM_000573 CR1,CR1 EXON Missense_G1869R,Missense_G1419R exm144895 1 207760852 [A/G] NM_000651,NM_000573 CR1,CR1 EXON Missense_M1884I,Missense_M1434I exm144899 1 207762095 [T/C] NM_000651,NM_000573 CR1,CR1 EXON Missense_T1929I,Missense_T1479I exm1748936 1 207780596 [T/G] NM_000651,NM_000573 CR1,CR1 EXON Synonymous_G1937G,Synonymous_G1487G exm144906 1 207782682 [A/G] NM_000651,NM_000573 CR1,CR1 EXON Missense_S1982G,Missense_S1532G exm144908 1 207782707 [A/G] NM_000651,NM_000573 CR1,CR1 EXON Missense_N1990S,Missense_N1540S exm144910 1 207782769 [A/G] NM_000651,NM_000573 CR1,CR1 EXON Missense_V2011M,Missense_V1561M exm144917 1 207782856 [A/G] NM_000651,NM_000573 CR1,CR1 EXON Missense_K2040E,Missense_K1590E exm144919 1 207782889 [A/G] NM_000651,NM_000573 CR1,CR1 EXON Missense_R2051G,Missense_R1601G exm144922 1 207782916 [A/T] NM_000651,NM_000573 CR1,CR1 EXON Missense_T2060S,Missense_T1610S exm144924 1 207782931 [A/G] NM_000651,NM_000573 CR1,CR1 EXON Missense_I2065V,Missense_I1615V exm144926 1 207782953 [T/G] NM_000651,NM_000573 CR1,CR1 EXON Missense_G2072V,Missense_G1622V exm-rs3818361 1 207784968 [A/G] NM_000651,NM_000573 CR1,CR1 Silent,Silent exm-rs6701713 1 207786289 [A/G] NM_000651,NM_000573 CR1,CR1 Silent,Silent exm144947 1 207787763 [A/G] NM_000651,NM_000573 CR1,CR1 EXON Missense_G2197D,Missense_G1747D exm144953 1 207790018 [A/G] NM_000651,NM_000573 CR1,CR1 EXON Missense_D2254N,Missense_D1804N exm2232390 1 207790033 [A/G] NM_000651,NM_000573 CR1,CR1 EXON Missense_R2259G,Missense_R1809G exm144961 1 207791434 [A/G] NM_000651,NM_000573 CR1,CR1 EXON Missense_K2303R,Missense_K1853R exm144965 1 207791535 [A/G] NM_000651,NM_000573 CR1,CR1 EXON Missense_G2337S,Missense_G1887S exm2250518 1 207793289 [A/C] NM_000651,NM_000573 CR1,CR1 EXON Synonymous_V2377V,Synonymous_V1927V exm144971 1 207793289 [A/C] NM_000651,NM_000573 CR1,CR1 EXON Synonymous_V2377V,Synonymous_V1927V exm144975 1 207793411 [A/G] NM_000651,NM_000573 CR1,CR1 Silent,Silent exm144976 1 207795320 [A/G] NM_000651,NM_000573 CR1,CR1 EXON Missense_T2419A,Missense_T1969A exm-rs12034383 1 207803595 [A/G] NM_000651,NM_000573 CR1,CR1 Silent,Silent exm144981 1 207803936 [A/G] NM_000651,NM_000573 CR1,CR1 EXON Missense_R2476Q,Missense_R2026Q exm144982 1 207803947 [A/G] NM_000651,NM_000573 CR1,CR1 EXON Missense_T2480A,Missense_T2030A exm1748962 1 207803958 [T/A] NM_000651,NM_000573 CR1,CR1 EXON Missense_E2483D,Missense_E2033D exm144996 1 207850743 [A/G] NM_175710 CR1L EXON Missense_N36S exm144998 1 207850764 [T/C] NM_175710 CR1L EXON Missense_F43S exm145007 1 207850900 [C/G] NM_175710 CR1L EXON Missense_K88N exm145016 1 207851611 [A/G] NM_175710 CR1L EXON Missense_R116G exm145020 1 207857254 [A/G] NM_175710 CR1L EXON Missense_I139V exm145026 1 207867770 [A/G] NM_175710 CR1L EXON Missense_Y179C exm145032 1 207867854 [A/G] NM_175710 CR1L EXON Missense_C207Y exm145036 1 207867889 [A/G] NM_175710 CR1L EXON Missense_G219S exm145044 1 207868009 [C/G] NM_175710 CR1L EXON Missense_Q259E exm145055 1 207870968 [T/C] NM_175710 CR1L EXON Missense_T328M exm145061 1 207871155 [A/G] NM_175710 CR1L EXON Missense_G360D exm-rs7527798 1 207872290 [T/C] NM_175710 CR1L Silent exm-rs4844614 1 207875175 [T/G] NM_175710 CR1L Silent exm145072 1 207881605 [T/C] NM_175710 CR1L EXON Nonsense_Q471X exm145076 1 207890818 [A/G] NM_175710 CR1L EXON Missense_C475Y exm145085 1 207890961 [T/C] NM_175710 CR1L EXON Missense_R523C exm145089 1 207925595 [T/C] NM_172353,NM_172352,NM_002389,NM_172351,NM_153826,NM_172350,NM_172361,NM_172359 CD46,CD46,CD46,CD46,CD46,CD46,CD46,CD46 EXON Missense_S13F,Missense_S13F,Missense_S13F,Missense_S13F,Missense_S13F,Missense_S13F,Missense_S13F,Missense_S13F exm145090 1 207930459 [A/T] NM_172353,NM_172352,NM_002389,NM_172351,NM_153826,NM_172350,NM_172361,NM_172359 CD46,CD46,CD46,CD46,CD46,CD46,CD46,CD46 EXON Missense_K66N,Missense_K66N,Missense_K66N,Missense_K66N,Missense_K66N,Missense_K66N,Missense_K66N,Missense_K66N exm2250519 1 207930516 [A/G] NM_172353,NM_172352,NM_002389,NM_172351,NM_153826,NM_172350,NM_172361,NM_172359 CD46,CD46,CD46,CD46,CD46,CD46,CD46,CD46 EXON Synonymous_T85T,Synonymous_T85T,Synonymous_T85T,Synonymous_T85T,Synonymous_T85T,Synonymous_T85T,Synonymous_T85T,Synonymous_T85T exm145096 1 207930546 [T/C] NM_172353,NM_172352,NM_002389,NM_172351,NM_153826,NM_172350,NM_172361,NM_172359 CD46,CD46,CD46,CD46,CD46,CD46,CD46,CD46 EXON Synonymous_Y95Y,Synonymous_Y95Y,Synonymous_Y95Y,Synonymous_Y95Y,Synonymous_Y95Y,Synonymous_Y95Y,Synonymous_Y95Y,Synonymous_Y95Y exm1749026 1 207930891 [T/C] NM_172353,NM_172352,NM_002389,NM_172351,NM_153826,NM_172350,NM_172361,NM_172359 CD46,CD46,CD46,CD46,CD46,CD46,CD46,CD46 EXON Missense_T98I,Missense_T98I,Missense_T98I,Missense_T98I,Missense_T98I,Missense_T98I,Missense_T98I,Missense_T98I exm145110 1 207940370 [A/G] NM_172353,NM_172352,NM_002389,NM_172351,NM_153826,NM_172350,NM_172361,NM_172359 CD46,CD46,CD46,CD46,CD46,CD46,CD46,CD46 EXON Missense_R229Q,Missense_R229Q,Missense_R229Q,Missense_R229Q,Missense_R229Q,Missense_R229Q,Missense_R229Q,Missense_R229Q exm2232391 1 207940399 [A/G] NM_172353,NM_172352,NM_002389,NM_172351,NM_153826,NM_172350,NM_172361,NM_172359 CD46,CD46,CD46,CD46,CD46,CD46,CD46,CD46 EXON Missense_I239V,Missense_I239V,Missense_I239V,Missense_I239V,Missense_I239V,Missense_I239V,Missense_I239V,Missense_I239V exm145117 1 207940480 [A/G] NM_172353,NM_172352,NM_002389,NM_172351,NM_153826,NM_172350,NM_172361,NM_172359 CD46,CD46,CD46,CD46,CD46,CD46,CD46,CD46 EXON Missense_D266N,Missense_D266N,Missense_D266N,Missense_D266N,Missense_D266N,Missense_D266N,Missense_D266N,Missense_D266N exm145130 1 207941128 [A/G] NM_172353,NM_172352,NM_002389,NM_172351,NM_153826,NM_172350,NM_172361,NM_172359 CD46,CD46,CD46,CD46,CD46,CD46,CD46,CD46 EXON Silent,Silent,Synonymous_S302S,Synonymous_S287S,Synonymous_S287S,Silent,Silent,Synonymous_S302S exm2250520 1 207941128 [A/G] NM_172353,NM_172352,NM_002389,NM_172351,NM_153826,NM_172350,NM_172361,NM_172359 CD46,CD46,CD46,CD46,CD46,CD46,CD46,CD46 EXON Silent,Silent,Synonymous_S302S,Synonymous_S287S,Synonymous_S287S,Silent,Silent,Synonymous_S302S exm145140 1 207943690 [T/C] NM_172353,NM_172352,NM_002389,NM_172351,NM_153826,NM_172350,NM_172361,NM_172359 CD46,CD46,CD46,CD46,CD46,CD46,CD46,CD46 EXON Missense_P294L,Missense_P294L,Missense_P324L,Missense_P309L,Missense_P309L,Missense_P294L,Silent,Missense_P324L exm145146 1 207958446 [T/C] NM_172353,NM_172352,NM_002389,NM_172351,NM_153826,NM_172350,NM_172361,NM_172359 CD46,CD46,CD46,CD46,CD46,CD46,CD46,CD46 EXON Missense_A323V,Missense_A323V,Missense_A353V,Missense_A338V,Missense_A338V,Missense_A323V,Missense_A309V,Missense_A353V exm145155 1 207963618 [T/C] NM_172353,NM_172352,NM_002389,NM_172351,NM_153826,NM_172350,NM_172361,NM_172359 CD46,CD46,CD46,CD46,CD46,CD46,CD46,CD46 EXON Silent,Missense_T353I,Missense_T383I,Missense_T368I,Silent,Silent,Silent,Silent exm-rs12731740 1 208024820 [T/C] exm145169 1 208061106 [T/C] NM_001025109,NM_001773 CD34,CD34 EXON Missense_V379M,Silent exm2232392 1 208061142 [A/C] NM_001025109,NM_001773 CD34,CD34 EXON Missense_A367S,Silent exm2275541 1 208061148 [A/C] NM_001025109,NM_001773 CD34,CD34 EXON Missense_G365C,Silent exm145179 1 208061267 [T/C] NM_001025109,NM_001773 CD34,CD34 EXON Missense_G325D,Silent exm145181 1 208062046 [G/C] NM_001025109,NM_001773 CD34,CD34 EXON Missense_S318T,Missense_S318T exm145192 1 208062965 [A/G] NM_001025109,NM_001773 CD34,CD34 EXON Missense_A200V,Missense_A200V exm145213 1 208072436 [A/G] NM_001025109,NM_001773 CD34,CD34 EXON Missense_T133I,Missense_T133I exm145214 1 208072455 [T/C] NM_001025109,NM_001773 CD34,CD34 EXON Missense_V127I,Missense_V127I exm145219 1 208073205 [A/C] NM_001025109,NM_001773 CD34,CD34 EXON Missense_V75L,Missense_V75L exm145223 1 208073330 [A/G] NM_001025109,NM_001773 CD34,CD34 EXON Missense_L33P,Missense_L33P exm-rs2745967 1 208128722 [A/G] exm2250521 1 208164440 [A/G] exm145229 1 208200640 [T/C] NM_025179 PLXNA2 EXON Missense_R1878Q exm145262 1 208206768 [T/C] NM_025179 PLXNA2 EXON Missense_V1651M exm145269 1 208206836 [A/G] NM_025179 PLXNA2 EXON Missense_T1628M exm145271 1 208207839 [A/G] NM_025179 PLXNA2 EXON Synonymous_Y1621Y exm145281 1 208211804 [T/C] NM_025179 PLXNA2 EXON Missense_R1559Q exm145290 1 208212224 [T/C] NM_025179 PLXNA2 EXON Missense_V1536M exm145295 1 208212971 [T/C] NM_025179 PLXNA2 EXON Missense_T1499A exm145308 1 208213363 [T/C] NM_025179 PLXNA2 EXON Missense_A1443T exm145312 1 208215558 [T/G] NM_025179 PLXNA2 EXON Missense_M1391L exm145346 1 208219267 [T/C] NM_025179 PLXNA2 EXON Missense_T1151A exm145370 1 208225805 [G/C] NM_025179 PLXNA2 EXON Missense_P954A exm145371 1 208227768 [T/C] NM_025179 PLXNA2 EXON Missense_V952M exm145372 1 208227773 [T/G] NM_025179 PLXNA2 EXON Missense_T950N exm145386 1 208234128 [T/C] NM_025179 PLXNA2 EXON Missense_V881M exm145393 1 208252652 [T/C] NM_025179 PLXNA2 EXON Missense_D847N exm145396 1 208252681 [T/C] NM_025179 PLXNA2 EXON Missense_H837R exm145398 1 208252715 [A/C] NM_025179 PLXNA2 EXON Missense_C826G exm145403 1 208252777 [C/G] NM_025179 PLXNA2 EXON Missense_A805G exm145404 1 208252778 [A/C] NM_025179 PLXNA2 EXON Missense_A805S exm145409 1 208255817 [T/C] NM_025179 PLXNA2 EXON Missense_V779M exm145415 1 208257774 [A/G] NM_025179 PLXNA2 EXON Missense_V750A exm145416 1 208257789 [T/C] NM_025179 PLXNA2 EXON Missense_G745E exm145428 1 208270093 [T/C] NM_025179 PLXNA2 EXON Missense_V623I exm2232397 1 208270107 [T/G] NM_025179 PLXNA2 EXON Missense_P618H exm145433 1 208270177 [T/C] NM_025179 PLXNA2 EXON Missense_A595T exm145440 1 208272311 [C/G] NM_025179 PLXNA2 EXON Missense_C537W exm145441 1 208272313 [A/C] NM_025179 PLXNA2 EXON Missense_C537G exm2264946 1 208299199 [A/G] NM_025179 PLXNA2 Silent exm145446 1 208315674 [T/C] NM_025179 PLXNA2 EXON Synonymous_Q502Q exm-rs4844649 1 208337392 [A/G] NM_025179 PLXNA2 Silent exm145473 1 208390162 [T/C] NM_025179 PLXNA2 EXON Missense_E369G exm145479 1 208390364 [A/G] NM_025179 PLXNA2 EXON Missense_R302W exm145484 1 208390415 [T/C] NM_025179 PLXNA2 EXON Missense_K285E exm145486 1 208390469 [T/C] NM_025179 PLXNA2 EXON Missense_A267T exm145488 1 208390516 [A/C] NM_025179 PLXNA2 EXON Missense_G251V exm145492 1 208390654 [T/C] NM_025179 PLXNA2 EXON Missense_R205Q exm145507 1 208390979 [C/G] NM_025179 PLXNA2 EXON Missense_P97A exm145509 1 208391023 [A/G] NM_025179 PLXNA2 EXON Missense_A82V exm145510 1 208391027 [A/C] NM_025179 PLXNA2 EXON Missense_V81L exm145517 1 208391098 [T/C] NM_025179 PLXNA2 EXON Missense_Q57R exm145518 1 208391131 [T/C] NM_025179 PLXNA2 EXON Missense_R46H exm145520 1 208391177 [A/G] NM_025179 PLXNA2 EXON Missense_P31S exm145526 1 208391254 [T/C] NM_025179 PLXNA2 EXON Missense_R5Q exm-rs17259784 1 208757586 [G/C] exm2263869 1 208830611 [A/C] exm2250524 1 209034761 [A/G] exm2263847 1 209581483 [A/C] exm145531 1 209602712 [T/G] NM_001104548 MIR205HG EXON Missense_S24A exm145535 1 209603782 [A/C] NM_001104548 MIR205HG EXON Missense_L42I exm145537 1 209603807 [A/G] NM_001104548 MIR205HG EXON Missense_R50Q exm145545 1 209605611 [A/G] NM_001104548 MIR205HG EXON Missense_A76T exm2259940 1 209697447 [T/C] exm145553 1 209768356 [A/G] NM_020439 CAMK1G EXON Missense_S10G exm145559 1 209773416 [T/C] NM_020439 CAMK1G EXON Missense_R61W exm145587 1 209783222 [C/G] NM_020439 CAMK1G EXON Missense_E259Q exm145595 1 209784873 [T/G] NM_020439 CAMK1G EXON Missense_K297N exm145612 1 209785206 [A/G] NM_020439 CAMK1G EXON Missense_V329I exm145621 1 209785333 [A/C] NM_020439 CAMK1G EXON Missense_T371N exm145628 1 209785484 [A/C] NM_020439 CAMK1G EXON Missense_S421R exm1749307 1 209785536 [T/C] NM_020439 CAMK1G EXON Missense_L439F exm145641 1 209788656 [T/C] NM_001017402,NM_001127641,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_H1160R,Missense_H1160R,Missense_H1160R exm145645 1 209788699 [A/C] NM_001017402,NM_001127641,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_D1146Y,Missense_D1146Y,Missense_D1146Y exm145650 1 209788731 [T/C] NM_001017402,NM_001127641,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_R1135Q,Missense_R1135Q,Missense_R1135Q exm2232404 1 209789830 [T/A] NM_001017402,NM_001127641,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_M1123K,Missense_M1123K,Missense_M1123K exm145652 1 209789875 [A/C] NM_001017402,NM_001127641,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_V1108G,Missense_V1108G,Missense_V1108G exm145653 1 209789887 [T/C] NM_001017402,NM_001127641,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_R1104Q,Missense_R1104Q,Missense_R1104Q exm145660 1 209790859 [A/G] NM_001017402,NM_001127641,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_R1042W,Missense_R1042W,Missense_R1042W exm145662 1 209790915 [T/C] NM_001017402,NM_001127641,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_R1023Q,Missense_R1023Q,Missense_R1023Q exm145666 1 209791293 [T/G] NM_001017402,NM_001127641,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_T1004P,Missense_T1004P,Missense_T1004P exm145669 1 209791340 [T/C] NM_001017402,NM_001127641,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_R988Q,Missense_R988Q,Missense_R988Q exm2275542 1 209791341 [A/G] NM_001017402,NM_001127641,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_R988W,Missense_R988W,Missense_R988W exm145670 1 209791358 [T/C] NM_001017402,NM_001127641,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_D982G,Missense_D982G,Missense_D982G exm145672 1 209791370 [G/C] NM_001017402,NM_001127641,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_G978A,Missense_G978A,Missense_G978A exm145678 1 209791833 [T/C] NM_001017402,NM_001127641,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_R958H,Missense_R958H,Missense_R958H exm145683 1 209791911 [A/G] NM_001017402,NM_001127641,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_M932T,Missense_M932T,Missense_M932T exm145684 1 209791929 [T/G] NM_001017402,NM_001127641,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_A926D,Missense_A926D,Missense_A926D exm145686 1 209791960 [T/C] NM_001017402,NM_001127641,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_V916M,Missense_V916M,Missense_V916M exm145688 1 209791983 [A/G] NM_001017402,NM_001127641,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_T908I,Missense_T908I,Missense_T908I exm145700 1 209796018 [C/G] NM_001017402,NM_001127641,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_A855G,Missense_A855G,Missense_A855G exm145701 1 209796329 [A/T] NM_001017402,NM_001127641,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_M852L,Missense_M852L,Missense_M852L exm145702 1 209796341 [A/G] NM_001017402,NM_001127641,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_R848W,Missense_R848W,Missense_R848W exm145703 1 209796364 [T/C] NM_001017402,NM_001127641,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_R840Q,Missense_R840Q,Missense_R840Q exm1749351 1 209796948 [A/G] NM_001017402,NM_001127641,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_R754W,Missense_R754W,Missense_R754W exm145714 1 209796950 [A/C] NM_001017402,NM_001127641,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_V753G,Missense_V753G,Missense_V753G exm145724 1 209797061 [T/C] NM_001017402,NM_001127641,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_R716Q,Missense_R716Q,Missense_R716Q exm145728 1 209797253 [T/C] NM_001017402,NM_001127641,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_N690S,Missense_N690S,Missense_N690S exm145729 1 209797256 [A/G] NM_001017402,NM_001127641,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_F689S,Missense_F689S,Missense_F689S exm145736 1 209797344 [A/G] NM_001017402,NM_001127641,NM_000228 LAMB3,LAMB3,LAMB3 EXON Nonsense_R660X,Nonsense_R660X,Nonsense_R660X exm145740 1 209799066 [A/G] NM_001017402,NM_001127641,NM_000228 LAMB3,LAMB3,LAMB3 EXON Nonsense_R635X,Nonsense_R635X,Nonsense_R635X exm145746 1 209799107 [A/G] NM_001017402,NM_001127641,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_A621V,Missense_A621V,Missense_A621V exm145749 1 209799150 [T/C] NM_001017402,NM_001127641,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_A607T,Missense_A607T,Missense_A607T exm145752 1 209799177 [A/G] NM_001017402,NM_001127641,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_R598C,Missense_R598C,Missense_R598C exm145753 1 209799192 [A/G] NM_001017402,NM_001127641,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_R593W,Missense_R593W,Missense_R593W exm145762 1 209799264 [A/G] NM_001017402,NM_001127641,NM_000228 LAMB3,LAMB3,LAMB3 EXON Nonsense_R569X,Nonsense_R569X,Nonsense_R569X exm145766 1 209799292 [A/C] NM_001017402,NM_001127641,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_L559F,Missense_L559F,Missense_L559F exm145772 1 209800230 [T/C] NM_001017402,NM_001127641,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_V527M,Missense_V527M,Missense_V527M exm1749365 1 209800865 [A/G] NM_001017402,NM_001127641,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_R450C,Missense_R450C,Missense_R450C exm145801 1 209801394 [A/G] NM_001017402,NM_001127641,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_P425L,Missense_P425L,Missense_P425L exm145817 1 209803118 [A/G] NM_001017402,NM_001127641,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_R366W,Missense_R366W,Missense_R366W exm145820 1 209803163 [T/C] NM_001017402,NM_001127641,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_E351K,Missense_E351K,Missense_E351K exm145822 1 209803199 [A/G] NM_001017402,NM_001127641,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_Y339H,Missense_Y339H,Missense_Y339H exm1749379 1 209803974 [A/G] NM_001017402,NM_001127641,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_A310V,Missense_A310V,Missense_A310V exm145830 1 209803992 [A/G] NM_001017402,NM_001127641,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_P304L,Missense_P304L,Missense_P304L exm1749381 1 209804028 [A/C] NM_001017402,NM_001127641,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_R292L,Missense_R292L,Missense_R292L exm145840 1 209805938 [T/G] NM_001017402,NM_001127641,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_T271N,Missense_T271N,Missense_T271N exm2250527 1 209805973 [A/G] NM_001017402,NM_001127641,NM_000228 LAMB3,LAMB3,LAMB3 EXON Synonymous_C259C,Synonymous_C259C,Synonymous_C259C exm145845 1 209806016 [T/C] NM_001017402,NM_001127641,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_R245H,Missense_R245H,Missense_R245H exm145847 1 209806061 [G/C] NM_001017402,NM_001127641,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_R230T,Missense_R230T,Missense_R230T exm145851 1 209806461 [A/C] NM_001017402,NM_001127641,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_M194I,Missense_M194I,Missense_M194I exm145854 1 209807799 [A/C] NM_001017402,NM_001127641,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_G186V,Missense_G186V,Missense_G186V exm145856 1 209807809 [A/G] NM_001017402,NM_001127641,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_R183C,Missense_R183C,Missense_R183C exm145857 1 209807815 [T/C] NM_001017402,NM_001127641,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_N181D,Missense_N181D,Missense_N181D exm145863 1 209807952 [T/C] NM_001017402,NM_001127641,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_R135H,Missense_R135H,Missense_R135H exm145869 1 209811293 [T/C] NM_001017402,NM_001127641,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_D111G,Missense_D111G,Missense_D111G exm145876 1 209823367 [T/C] NM_001017402,NM_001127641,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_R42Q,Missense_R42Q,Missense_R42Q exm145879 1 209823403 [A/G] NM_001017402,NM_001127641,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_V30A,Missense_V30A,Missense_V30A exm145880 1 209823424 [T/C] NM_001017402,NM_001127641,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_R23H,Missense_R23H,Missense_R23H exm145881 1 209823425 [A/G] NM_001017402,NM_001127641,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_R23C,Missense_R23C,Missense_R23C exm145896 1 209849039 [A/G] NM_015714 G0S2 EXON Missense_V4I exm145905 1 209849303 [A/G] NM_015714 G0S2 EXON Missense_G92S exm145906 1 209849306 [A/G] NM_015714 G0S2 EXON Missense_G93S exm145908 1 209849340 [A/G] NM_015714 G0S2 EXON Missense_X104W exm145943 1 209933400 [T/C] NM_025228 TRAF3IP3 EXON Missense_P6S exm145948 1 209933491 [A/G] NM_025228 TRAF3IP3 EXON Missense_R36H exm145956 1 209933608 [A/G] NM_025228 TRAF3IP3 EXON Missense_E75G exm145960 1 209933659 [A/G] NM_025228 TRAF3IP3 EXON Missense_R92Q exm145966 1 209936196 [A/G] NM_025228 TRAF3IP3 EXON Missense_D178N exm2268822 1 209939599 [T/C] NM_025228 TRAF3IP3 Silent exm145978 1 209946310 [G/C] NM_025228 TRAF3IP3 EXON Missense_D240E exm145993 1 209950760 [G/C] NM_025228 TRAF3IP3 EXON Missense_Q373E exm146039 1 209956402 [T/C] NM_152485 C1orf74 EXON Missense_N193S exm146040 1 209956426 [A/C] NM_152485 C1orf74 EXON Missense_F185C exm146044 1 209956542 [A/C] NM_152485 C1orf74 EXON Missense_L146F exm1749463 1 209956796 [T/C] NM_152485 C1orf74 EXON Missense_G62R exm146060 1 209961970 [C/G] NM_001206696,NM_006147 IRF6,IRF6 EXON Missense_R305P,Missense_R400P exm146069 1 209963841 [A/G] NM_001206696,NM_006147 IRF6,IRF6 EXON Synonymous_S258S,Synonymous_S353S exm146075 1 209964080 [T/C] NM_001206696,NM_006147 IRF6,IRF6 EXON Missense_V179I,Missense_V274I exm1749474 1 209964095 [T/C] NM_001206696,NM_006147 IRF6,IRF6 EXON Missense_V174I,Missense_V269I exm146077 1 209964123 [T/C] NM_001206696,NM_006147 IRF6,IRF6 EXON Missense_M164I,Missense_M259I exm146081 1 209965660 [T/C] NM_001206696,NM_006147 IRF6,IRF6 EXON Missense_I112M,Missense_I207M exm146082 1 209968637 [T/C] NM_001206696,NM_006147 IRF6,IRF6 EXON Missense_N74S,Missense_N169S exm-rs10863790 1 209988047 [A/C] exm-rs642961 1 209989270 [A/G] exm146096 1 210001460 [A/G] NM_014388 DIEXF EXON Missense_K18E exm146109 1 210004199 [G/C] NM_014388 DIEXF EXON Missense_Q67E exm146112 1 210004221 [G/C] NM_014388 DIEXF EXON Missense_R74T exm146117 1 210004332 [A/G] NM_014388 DIEXF EXON Missense_G111D exm146120 1 210004344 [A/G] NM_014388 DIEXF EXON Missense_S115N exm146132 1 210010204 [A/G] NM_014388 DIEXF EXON Missense_K237R exm146137 1 210010324 [G/C] NM_014388 DIEXF EXON Missense_P277R exm146144 1 210010488 [T/C] NM_014388 DIEXF EXON Missense_R332C exm146157 1 210012437 [A/G] NM_014388 DIEXF EXON Missense_V416I exm146162 1 210014224 [T/C] NM_014388 DIEXF EXON Nonsense_R437X exm146179 1 210015757 [T/G] NM_014388 DIEXF EXON Missense_V545L exm146189 1 210015990 [A/T] NM_014388 DIEXF EXON Missense_H577Q exm2250530 1 210016856 [A/G] NM_014388 DIEXF EXON Synonymous_T614T exm146201 1 210016891 [A/G] NM_014388 DIEXF EXON Missense_R626H exm146202 1 210016917 [A/G] NM_014388 DIEXF EXON Missense_E635K exm146203 1 210016920 [A/T] NM_014388 DIEXF EXON Missense_L636M exm146235 1 210187118 [A/G] NR_027459,NM_153262,NM_001146262,NM_001146261,NM_001256006,NM_001146264 SYT14,SYT14,SYT14,SYT14,SYT14,SYT14 EXON Silent,Missense_R68G,Missense_R68G,Missense_R113G,Missense_R30G,Missense_R113G exm146241 1 210194555 [T/C] NR_027459,NM_153262,NM_001146262,NM_001146261,NM_001256006,NM_001146264 SYT14,SYT14,SYT14,SYT14,SYT14,SYT14 EXON Silent,Missense_S133L,Missense_S133L,Missense_S178L,Missense_S95L,Missense_S178L exm146243 1 210194557 [A/G] NR_027459,NM_153262,NM_001146262,NM_001146261,NM_001256006,NM_001146264 SYT14,SYT14,SYT14,SYT14,SYT14,SYT14 EXON Silent,Missense_A134T,Missense_A134T,Missense_A179T,Missense_A96T,Missense_A179T exm146246 1 210267700 [T/C] NR_027459,NM_153262,NM_001146262,NM_001146261,NM_001256006,NM_001146264 SYT14,SYT14,SYT14,SYT14,SYT14,SYT14 EXON Silent,Missense_P159L,Missense_P159L,Missense_P204L,Missense_P121L,Missense_P204L exm146254 1 210267896 [A/T] NR_027459,NM_153262,NM_001146262,NM_001146261,NM_001256006,NM_001146264 SYT14,SYT14,SYT14,SYT14,SYT14,SYT14 EXON Silent,Missense_E224D,Missense_E224D,Missense_E269D,Missense_E186D,Missense_E269D exm146257 1 210273357 [A/G] NR_027459,NM_153262,NM_001146262,NM_001146261,NM_001256006,NM_001146264 SYT14,SYT14,SYT14,SYT14,SYT14,SYT14 EXON Silent,Missense_D239N,Missense_D239N,Missense_D284N,Missense_D201N,Missense_D284N exm146264 1 210273523 [A/G] NR_027459,NM_153262,NM_001146262,NM_001146261,NM_001256006,NM_001146264 SYT14,SYT14,SYT14,SYT14,SYT14,SYT14 EXON Silent,Missense_G294D,Missense_G294D,Missense_G339D,Missense_G256D,Missense_G339D exm146268 1 210273697 [A/G] NR_027459,NM_153262,NM_001146262,NM_001146261,NM_001256006,NM_001146264 SYT14,SYT14,SYT14,SYT14,SYT14,SYT14 EXON Silent,Missense_R352H,Missense_R352H,Missense_R397H,Missense_R314H,Missense_R397H exm146281 1 210334143 [A/G] NR_027459,NM_153262,NM_001146262,NM_001146261,NM_001256006,NM_001146264 SYT14,SYT14,SYT14,SYT14,SYT14,SYT14 EXON Silent,Missense_R475H,Missense_R494H,Missense_R539H,Missense_R437H,Missense_R520H exm146299 1 210411339 [A/G] NM_019605 SERTAD4 EXON Missense_E12K exm146300 1 210411343 [G/C] NM_019605 SERTAD4 EXON Missense_P13R exm146305 1 210411414 [A/C] NM_019605 SERTAD4 EXON Missense_P37T exm146307 1 210411420 [A/C] NM_019605 SERTAD4 EXON Missense_P39T exm146308 1 210411426 [A/G] NM_019605 SERTAD4 EXON Missense_G41R exm146309 1 210411438 [A/G] NM_019605 SERTAD4 EXON Missense_A45T exm146312 1 210411457 [A/G] NM_019605 SERTAD4 EXON Missense_R51Q exm146317 1 210412843 [T/C] NM_019605 SERTAD4 EXON Missense_H61Y exm146321 1 210414904 [T/C] NM_019605 SERTAD4 EXON Missense_T98I exm146333 1 210415135 [A/G] NM_019605 SERTAD4 EXON Missense_R175Q exm146342 1 210415275 [A/G] NM_019605 SERTAD4 EXON Missense_A222T exm146344 1 210415352 [A/T] NM_019605 SERTAD4 EXON Missense_D247E exm146351 1 210415569 [A/T] NM_019605 SERTAD4 EXON Missense_T320S exm146352 1 210415570 [T/C] NM_019605 SERTAD4 EXON Missense_T320I exm146353 1 210415620 [T/C] NM_019605 SERTAD4 EXON Missense_R337W exm2259948 1 210418827 [T/C] exm146361 1 210522387 [A/G] NM_001122834,NM_001170564,NM_018194,NM_001170588,NM_001170587,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT EXON Missense_Y23C,Missense_Y23C,Missense_Y23C,Missense_Y23C,Silent,Missense_Y23C exm146362 1 210536197 [A/C] NM_001122834,NM_001170564,NM_018194,NM_001170588,NM_001170587,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT EXON Missense_E31D,Missense_E31D,Missense_E31D,Missense_E31D,Missense_E32D,Missense_E31D exm146367 1 210536249 [A/G] NM_001122834,NM_001170564,NM_018194,NM_001170588,NM_001170587,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT EXON Missense_G49R,Missense_G49R,Missense_G49R,Missense_G49R,Missense_G50R,Missense_G49R exm146375 1 210560867 [T/G] NM_001122834,NM_001170564,NM_018194,NM_001170588,NM_001170587,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT EXON Missense_V72G,Missense_V72G,Missense_V72G,Missense_V72G,Missense_V73G,Missense_V72G exm146381 1 210573873 [T/C] NM_001122834,NM_001170564,NM_018194,NM_001170588,NM_001170587,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT EXON Missense_P112L,Silent,Missense_P112L,Silent,Missense_P113L,Missense_P112L exm146385 1 210573929 [T/C] NM_001122834,NM_001170564,NM_018194,NM_001170588,NM_001170587,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT EXON Missense_R131W,Silent,Missense_R131W,Silent,Missense_R132W,Missense_R131W exm146397 1 210577884 [A/G] NM_001122834,NM_001170564,NM_018194,NM_001170588,NM_001170587,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT EXON Missense_S182N,Silent,Missense_S182N,Missense_S117N,Missense_S183N,Missense_S182N exm146398 1 210577901 [T/C] NM_001122834,NM_001170564,NM_018194,NM_001170588,NM_001170587,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT EXON Missense_C188R,Silent,Missense_C188R,Missense_C123R,Missense_C189R,Missense_C188R exm2268823 1 210590153 [T/C] NM_001122834,NM_001170564,NM_018194,NM_001170588,NM_001170587,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT Silent,Silent,Silent,Silent,Silent,Silent exm146409 1 210591562 [A/G] NM_001122834,NM_001170564,NM_018194,NM_001170588,NM_001170587,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT EXON Missense_R250H,Missense_R113H,Missense_R250H,Missense_R185H,Missense_R251H,Missense_R250H exm146417 1 210637927 [A/G] NM_001122834,NM_001170564,NM_018194,NM_001170588,NM_001170587,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT EXON Missense_R312H,Missense_R175H,Missense_R312H,Missense_R247H,Missense_R313H,Missense_R312H exm146422 1 210637959 [T/C] NM_001122834,NM_001170564,NM_018194,NM_001170588,NM_001170587,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT EXON Missense_R323C,Missense_R186C,Missense_R323C,Missense_R258C,Missense_R324C,Missense_R323C exm146424 1 210637989 [A/G] NM_001122834,NM_001170564,NM_018194,NM_001170588,NM_001170587,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT EXON Missense_G333R,Missense_G196R,Missense_G333R,Missense_G268R,Missense_G334R,Missense_G333R exm146431 1 210761310 [T/C] NM_001122834,NM_001170564,NM_018194,NM_001170588,NM_001170587,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT EXON Missense_T371I,Missense_T234I,Missense_T371I,Missense_T306I,Missense_T372I,Missense_T371I exm146435 1 210761346 [A/G] NM_001122834,NM_001170564,NM_018194,NM_001170588,NM_001170587,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT EXON Missense_D383G,Missense_D246G,Missense_D383G,Missense_D318G,Missense_D384G,Missense_D383G exm146438 1 210761373 [A/G] NM_001122834,NM_001170564,NM_018194,NM_001170588,NM_001170587,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT EXON Missense_N392S,Missense_N255S,Missense_N392S,Missense_N327S,Missense_N393S,Missense_N392S exm146441 1 210761405 [T/C] NM_001122834,NM_001170564,NM_018194,NM_001170588,NM_001170587,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT EXON Missense_R403W,Missense_R266W,Missense_R403W,Missense_R338W,Missense_R404W,Missense_R403W exm146451 1 210796970 [A/G] NM_001122834,NM_001170564,NM_018194,NM_001170588,NM_001170587,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT EXON Missense_G449D,Missense_G312D,Missense_G449D,Missense_G384D,Missense_G450D,Missense_G449D exm146458 1 210847683 [A/G] NM_001122834,NM_001170564,NM_018194,NM_001170588,NM_001170587,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT EXON Missense_V482M,Missense_V345M,Missense_V482M,Missense_V417M,Missense_V483M,Missense_V482M exm146460 1 210847696 [T/G] NM_001122834,NM_001170564,NM_018194,NM_001170588,NM_001170587,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT EXON Missense_W486L,Missense_W349L,Missense_W486L,Missense_W421L,Missense_W487L,Missense_W486L exm146477 1 210856825 [T/G] NM_002238,NM_172362 KCNH1,KCNH1 EXON Missense_Q896P,Missense_Q923P exm146488 1 210857092 [T/C] NM_002238,NM_172362 KCNH1,KCNH1 EXON Missense_R807H,Missense_R834H exm146493 1 210857116 [A/C] NM_002238,NM_172362 KCNH1,KCNH1 EXON Missense_G799V,Missense_G826V exm146504 1 210857225 [T/C] NM_002238,NM_172362 KCNH1,KCNH1 EXON Missense_V763M,Missense_V790M exm146511 1 210857261 [T/C] NM_002238,NM_172362 KCNH1,KCNH1 EXON Missense_A751T,Missense_A778T exm146513 1 210857266 [G/C] NM_002238,NM_172362 KCNH1,KCNH1 EXON Missense_A749G,Missense_A776G exm146518 1 210857431 [A/G] NM_002238,NM_172362 KCNH1,KCNH1 EXON Missense_M694T,Missense_M721T exm2250565 1 210902915 [A/G] NM_002238,NM_172362 KCNH1,KCNH1 Silent,Silent exm2259961 1 211383129 [T/C] exm2268824 1 211415358 [T/C] exm146593 1 211451474 [A/G] NM_001136224,NM_001136223,NM_001136225,NM_018254 RCOR3,RCOR3,RCOR3,RCOR3 EXON Missense_I178V,Missense_I178V,Missense_I178V,Missense_I120V exm146609 1 211486792 [A/G] NM_001136224,NM_001136223,NM_018254 RCOR3,RCOR3,RCOR3 EXON Missense_T368A,Synonymous_T448T,Synonymous_T390T exm146618 1 211486997 [A/G] NM_001136224,NM_001136223,NM_018254 RCOR3,RCOR3,RCOR3 EXON Missense_C436Y,Missense_A517T,Missense_A459T exm146624 1 211526627 [T/C] NM_004619,NM_001033910,NM_145759 TRAF5,TRAF5,TRAF5 EXON Missense_R16C,Missense_R16C,Missense_R16C exm146626 1 211526639 [A/G] NM_004619,NM_001033910,NM_145759 TRAF5,TRAF5,TRAF5 EXON Missense_G20S,Missense_G20S,Missense_G20S exm146630 1 211526711 [A/G] NM_004619,NM_001033910,NM_145759 TRAF5,TRAF5,TRAF5 EXON Missense_K44E,Missense_K44E,Missense_K44E exm146638 1 211529767 [A/G] NM_004619,NM_001033910,NM_145759 TRAF5,TRAF5,TRAF5 EXON Missense_N112S,Missense_N112S,Missense_N112S exm146643 1 211533309 [A/G] NM_004619,NM_001033910,NM_145759 TRAF5,TRAF5,TRAF5 EXON Missense_R145Q,Missense_R145Q,Missense_R145Q exm2232433 1 211534056 [A/C] NM_004619,NM_001033910,NM_145759 TRAF5,TRAF5,TRAF5 EXON Missense_N186H,Missense_N186H,Missense_N186H exm146648 1 211534099 [T/C] NM_004619,NM_001033910,NM_145759 TRAF5,TRAF5,TRAF5 EXON Missense_A200V,Missense_A200V,Missense_A200V exm146653 1 211538773 [A/G] NM_004619,NM_001033910,NM_145759 TRAF5,TRAF5,TRAF5 EXON Missense_R251H,Missense_R251H,Missense_R251H exm146668 1 211544785 [G/C] NM_004619,NM_001033910,NM_145759 TRAF5,TRAF5,TRAF5 EXON Missense_L358V,Missense_L358V,Missense_L358V exm146673 1 211545524 [A/C] NM_004619,NM_001033910,NM_145759 TRAF5,TRAF5,TRAF5 EXON Missense_A385E,Missense_A385E,Missense_A385E exm146678 1 211545673 [A/C] NM_004619,NM_001033910,NM_145759 TRAF5,TRAF5,TRAF5 EXON Missense_T435P,Missense_T435P,Missense_T435P exm146680 1 211545680 [A/G] NM_004619,NM_001033910,NM_145759 TRAF5,TRAF5,TRAF5 EXON Missense_R437H,Missense_R437H,Missense_R437H exm146681 1 211545690 [A/C] NM_004619,NM_001033910,NM_145759 TRAF5,TRAF5,TRAF5 EXON Nonsense_Y440X,Nonsense_Y440X,Nonsense_Y440X exm146688 1 211545955 [A/G] NM_004619,NM_001033910,NM_145759 TRAF5,TRAF5,TRAF5 EXON Missense_V529I,Missense_V529I,Missense_V529I exm146690 1 211545976 [A/G] NM_004619,NM_001033910,NM_145759 TRAF5,TRAF5,TRAF5 EXON Missense_A536T,Missense_A536T,Missense_A536T exm146697 1 211652382 [A/T] NM_001164688,NM_183059 RD3,RD3 EXON Missense_D195V,Missense_D195V exm146702 1 211652466 [T/C] NM_001164688,NM_183059 RD3,RD3 EXON Missense_R167K,Missense_R167K exm146703 1 211652472 [T/G] NM_001164688,NM_183059 RD3,RD3 EXON Missense_D165A,Missense_D165A exm146716 1 211654499 [T/C] NM_001164688,NM_183059 RD3,RD3 EXON Missense_K87E,Missense_K87E exm146720 1 211654556 [A/G] NM_001164688,NM_183059 RD3,RD3 EXON Missense_R68W,Missense_R68W exm2250619 1 211654590 [A/G] NM_001164688,NM_183059 RD3,RD3 EXON Synonymous_T56T,Synonymous_T56T exm146724 1 211654590 [A/G] NM_001164688,NM_183059 RD3,RD3 EXON Synonymous_T56T,Synonymous_T56T exm146726 1 211654619 [A/G] NM_001164688,NM_183059 RD3,RD3 EXON Missense_R47C,Missense_R47C exm146729 1 211654657 [A/G] NM_001164688,NM_183059 RD3,RD3 EXON Missense_T34M,Missense_T34M exm146731 1 211654675 [A/G] NM_001164688,NM_183059 RD3,RD3 EXON Missense_T28M,Missense_T28M exm146740 1 211654742 [A/G] NM_001164688,NM_183059 RD3,RD3 EXON Missense_W6R,Missense_W6R exm2268825 1 211675279 [T/C] exm-rs1614866 1 211700658 [A/G] exm146746 1 211749038 [T/C] NM_021194 SLC30A1 EXON Missense_V406I exm-rs10158309 1 211813550 [T/C] exm146778 1 211836799 [A/G] NM_001204182,NM_002497 NEK2,NEK2 EXON Silent,Missense_L436P exm146787 1 211840498 [T/C] NM_001204182,NM_002497,NM_001204183 NEK2,NEK2,NEK2 EXON Missense_N354S,Missense_N354S,Missense_N354S exm146790 1 211842455 [A/G] NM_001204182,NM_002497,NM_001204183 NEK2,NEK2,NEK2 EXON Nonsense_Q329X,Nonsense_Q329X,Nonsense_Q329X exm146792 1 211842494 [A/G] NM_001204182,NM_002497,NM_001204183 NEK2,NEK2,NEK2 EXON Nonsense_R316X,Nonsense_R316X,Nonsense_R316X exm146808 1 211844613 [T/C] NM_001204182,NM_002497,NM_001204183 NEK2,NEK2,NEK2 EXON Missense_R190H,Missense_R190H,Missense_R190H exm146809 1 211844616 [T/C] NM_001204182,NM_002497,NM_001204183 NEK2,NEK2,NEK2 EXON Missense_N189S,Missense_N189S,Missense_N189S exm146816 1 211846971 [T/C] NM_001204182,NM_002497,NM_001204183 NEK2,NEK2,NEK2 EXON Missense_V137I,Missense_V137I,Missense_V137I exm146829 1 211847857 [T/C] NM_001204182,NM_002497,NM_001204183 NEK2,NEK2,NEK2 Silent,Silent,Silent exm146851 1 211952321 [T/C] NM_014873 LPGAT1 EXON Missense_I265V exm146854 1 211956700 [T/C] NM_014873 LPGAT1 EXON Missense_K200E exm146863 1 212002523 [T/C] NM_014873 LPGAT1 EXON Missense_Y39C exm146867 1 212002613 [A/G] NM_014873 LPGAT1 EXON Missense_P9L exm146872 1 212115314 [T/C] NR_037667,NM_001199811,NM_001199809,NM_001199812,NM_015434 INTS7,INTS7,INTS7,INTS7,INTS7 EXON Silent,Missense_N900S,Missense_N865S,Missense_N894S,Missense_N914S exm146886 1 212120028 [T/C] NR_037667,NM_001199811,NM_001199809,NM_001199812,NM_015434 INTS7,INTS7,INTS7,INTS7,INTS7 EXON Silent,Missense_N765S,Missense_N730S,Silent,Missense_N779S exm146897 1 212141905 [T/C] NR_037667,NM_001199811,NM_001199809,NM_001199812,NM_015434 INTS7,INTS7,INTS7,INTS7,INTS7 EXON Silent,Missense_A654T,Missense_A605T,Missense_A654T,Missense_A654T exm146904 1 212149967 [T/C] NR_037667,NM_001199811,NM_001199809,NM_001199812,NM_015434 INTS7,INTS7,INTS7,INTS7,INTS7 EXON Silent,Missense_N522S,Missense_N473S,Missense_N522S,Missense_N522S exm146913 1 212154442 [A/G] NR_037667,NM_001199811,NM_001199809,NM_001199812,NM_015434 INTS7,INTS7,INTS7,INTS7,INTS7 EXON Silent,Missense_T408I,Missense_T359I,Missense_T408I,Missense_T408I exm146920 1 212156041 [A/G] NR_037667,NM_001199811,NM_001199809,NM_001199812,NM_015434 INTS7,INTS7,INTS7,INTS7,INTS7 EXON Silent,Missense_I370T,Missense_I321T,Missense_I370T,Missense_I370T exm146926 1 212161239 [T/C] NR_037667,NM_001199811,NM_001199809,NM_001199812,NM_015434 INTS7,INTS7,INTS7,INTS7,INTS7 EXON Silent,Missense_S329N,Missense_S280N,Missense_S329N,Missense_S329N exm146927 1 212161258 [T/C] NR_037667,NM_001199811,NM_001199809,NM_001199812,NM_015434 INTS7,INTS7,INTS7,INTS7,INTS7 EXON Silent,Missense_A323T,Missense_A274T,Missense_A323T,Missense_A323T exm146929 1 212161344 [A/G] NR_037667,NM_001199811,NM_001199809,NM_001199812,NM_015434 INTS7,INTS7,INTS7,INTS7,INTS7 EXON Silent,Missense_A294V,Missense_A245V,Missense_A294V,Missense_A294V exm146937 1 212180608 [A/G] NR_037667,NM_001199811,NM_001199809,NM_001199812,NM_015434 INTS7,INTS7,INTS7,INTS7,INTS7 EXON Silent,Missense_V247A,Missense_V198A,Missense_V247A,Missense_V247A exm2250642 1 212190116 [A/C] NR_037667,NM_001199811,NM_001199809,NM_001199812,NM_015434 INTS7,INTS7,INTS7,INTS7,INTS7 Silent,Silent,Silent,Silent,Silent exm146963 1 212209243 [A/G] NM_016448 DTL EXON Missense_N4S exm-rs10863936 1 212237798 [A/G] NM_016448 DTL Silent exm146995 1 212240193 [A/G] NM_016448 DTL EXON Missense_E227K exm147007 1 212245455 [A/G] NM_016448 DTL EXON Missense_N312S exm2250648 1 212245477 [T/C] NM_016448 DTL EXON Synonymous_F319F exm1756859 1 212273593 [A/G] NM_016448 DTL Silent exm147024 1 212273797 [A/G] NM_016448 DTL EXON Missense_V489I exm147028 1 212273891 [T/C] NM_016448 DTL EXON Missense_S520L exm147046 1 212274413 [A/C] NM_016448 DTL EXON Missense_K694T exm147047 1 212274415 [T/G] NM_016448 DTL EXON Missense_L695V exm147049 1 212276212 [A/G] NM_016448 DTL EXON Missense_K708R exm147062 1 212502477 [A/G] NM_006243,NM_001199756 PPP2R5A,PPP2R5A EXON Missense_D61G,Missense_N4S exm1758395 1 212506912 [T/C] NM_006243,NM_001199756 PPP2R5A,PPP2R5A EXON Missense_T151M,Missense_T94M exm147119 1 212553310 [C/G] NM_018252,NM_001198862 TMEM206,TMEM206 EXON Missense_L189V,Missense_L250V exm147134 1 212558731 [T/C] NM_018252,NM_001198862 TMEM206,TMEM206 EXON Missense_S127N,Missense_S188N exm147138 1 212560248 [A/G] NM_018252,NM_001198862 TMEM206,TMEM206 EXON Missense_R110C,Missense_R171C exm147155 1 212587320 [T/C] NM_018252,NM_001198862 TMEM206,TMEM206 EXON Silent,Missense_N47D exm147165 1 212617692 [T/C] NR_026598,NM_013349 NENF,NENF EXON Silent,Nonsense_R84X exm2273742 1 212617723 [A/G] NR_026598,NM_013349 NENF,NENF EXON Silent,Missense_K94R exm147172 1 212617740 [A/G] NR_026598,NM_013349 NENF,NENF EXON Silent,Missense_V100I exm147177 1 212619173 [T/C] NR_026598,NM_013349 NENF,NENF EXON Silent,Missense_T115M exm147180 1 212619182 [T/C] NR_026598,NM_013349 NENF,NENF EXON Silent,Missense_T118M exm147185 1 212619247 [A/G] NR_026598,NM_013349 NENF,NENF EXON Silent,Missense_V140I exm2250675 1 212619339 [T/C] NR_026598,NM_013349 NENF,NENF EXON Silent,Synonymous_D170D exm2265079 1 212651499 [A/G] exm147192 1 212788398 [T/C] NM_001030287,NM_001040619,NM_001674,NM_001206488,NM_001206484,NM_001206486 ATF3,ATF3,ATF3,ATF3,ATF3,ATF3 EXON Missense_S12L,Missense_S12L,Missense_S12L,Silent,Silent,Missense_S12L exm147225 1 212798251 [T/C] NM_153606 FAM71A EXON Missense_T11M exm147226 1 212798260 [A/G] NM_153606 FAM71A EXON Missense_S14N exm1758800 1 212798336 [A/G] NM_153606 FAM71A EXON Missense_I39M exm147238 1 212798487 [T/C] NM_153606 FAM71A EXON Nonsense_R90X exm147244 1 212798554 [A/C] NM_153606 FAM71A EXON Missense_A112E exm147249 1 212798638 [A/G] NM_153606 FAM71A EXON Missense_R140H exm147251 1 212798665 [A/G] NM_153606 FAM71A EXON Missense_C149Y exm147254 1 212798697 [C/G] NM_153606 FAM71A EXON Missense_R160G exm147255 1 212798698 [A/G] NM_153606 FAM71A EXON Missense_R160Q exm147260 1 212798808 [A/G] NM_153606 FAM71A EXON Missense_V197M exm1758808 1 212798920 [T/C] NM_153606 FAM71A EXON Missense_T234I exm147269 1 212798977 [A/G] NM_153606 FAM71A EXON Missense_N253S exm147275 1 212799040 [G/C] NM_153606 FAM71A EXON Missense_G274A exm147285 1 212799139 [A/G] NM_153606 FAM71A EXON Missense_Q307R exm147287 1 212799163 [A/C] NM_153606 FAM71A EXON Missense_A315E exm147288 1 212799171 [A/G] NM_153606 FAM71A EXON Missense_I318V exm147307 1 212799535 [A/G] NM_153606 FAM71A EXON Missense_R439H exm147309 1 212799541 [A/G] NM_153606 FAM71A EXON Missense_R441K exm147318 1 212799654 [A/G] NM_153606 FAM71A EXON Missense_G479S exm147321 1 212799664 [T/G] NM_153606 FAM71A EXON Missense_G482V exm2232444 1 212799684 [T/C] NM_153606 FAM71A EXON Missense_S489P exm147329 1 212799870 [A/G] NM_153606 FAM71A EXON Missense_N551D exm147332 1 212799882 [T/A] NM_153606 FAM71A EXON Nonsense_K555X exm147355 1 212911779 [A/G] NM_015471,NM_001042549 NSL1,NSL1 EXON Missense_R273W,Silent exm147357 1 212911802 [A/G] NM_015471,NM_001042549 NSL1,NSL1 EXON Missense_P265L,Silent exm147358 1 212911836 [T/C] NM_015471,NM_001042549 NSL1,NSL1 EXON Missense_M254V,Silent exm147361 1 212912883 [T/G] NM_015471,NM_001042549 NSL1,NSL1 EXON Missense_A187D,Silent exm147366 1 212912926 [A/G] NM_015471,NM_001042549 NSL1,NSL1 EXON Synonymous_L173L,Missense_F201S exm147375 1 212957827 [T/C] NM_015471,NM_001042549 NSL1,NSL1 EXON Missense_I108V,Missense_I108V exm1758972 1 212964933 [T/C] NM_015471,NM_001042549 NSL1,NSL1 EXON Missense_Q58R,Missense_Q58R exm147390 1 212965095 [A/G] NM_015471,NM_001042549 NSL1,NSL1 EXON Missense_S4F,Missense_S4F exm147399 1 212965292 [A/C] NM_001146170,NM_001146169,NM_001042553,NM_001146171,NM_001042552 TATDN3,TATDN3,TATDN3,TATDN3,TATDN3 EXON Missense_D10A,Missense_D10A,Missense_D10A,Missense_D10A,Missense_D10A exm147411 1 212969889 [A/G] NM_001146170,NM_001146169,NM_001042553,NM_001146171,NM_001042552 TATDN3,TATDN3,TATDN3,TATDN3,TATDN3 EXON Missense_E44K,Missense_E44K,Missense_E44K,Missense_E44K,Missense_E44K exm147423 1 212970533 [A/C] NM_001146170,NM_001146169,NM_001042553,NM_001146171,NM_001042552 TATDN3,TATDN3,TATDN3,TATDN3,TATDN3 EXON Missense_L85I,Missense_L85I,Missense_L85I,Missense_L85I,Missense_L85I exm147425 1 212976085 [T/C] NM_001146170,NM_001146169,NM_001042553,NM_001146171,NM_001042552 TATDN3,TATDN3,TATDN3,TATDN3,TATDN3 EXON Silent,Missense_R101W,Missense_R101W,Missense_R101W,Missense_R101W exm147429 1 212977942 [A/G] NM_001146170,NM_001146169,NM_001042553,NM_001146171,NM_001042552 TATDN3,TATDN3,TATDN3,TATDN3,TATDN3 EXON Missense_V125M,Missense_V146M,Missense_V146M,Missense_V146M,Missense_V146M exm147430 1 212977951 [T/C] NM_001146170,NM_001146169,NM_001042553,NM_001146171,NM_001042552 TATDN3,TATDN3,TATDN3,TATDN3,TATDN3 EXON Missense_R128C,Missense_R149C,Missense_R149C,Missense_R149C,Missense_R149C exm147432 1 212977976 [A/G] NM_001146170,NM_001146169,NM_001042553,NM_001146171,NM_001042552 TATDN3,TATDN3,TATDN3,TATDN3,TATDN3 EXON Missense_N136S,Missense_N157S,Missense_N157S,Missense_N157S,Missense_N157S exm147436 1 212981105 [T/C] NM_001146170,NM_001146169,NM_001042553,NM_001146171,NM_001042552 TATDN3,TATDN3,TATDN3,TATDN3,TATDN3 EXON Missense_F151S,Missense_F172S,Missense_F172S,Missense_F172S,Missense_F172S exm147438 1 212981188 [T/C] NM_001146170,NM_001146169,NM_001042553,NM_001146171,NM_001042552 TATDN3,TATDN3,TATDN3,TATDN3,TATDN3 EXON Nonsense_Q179X,Nonsense_Q200X,Nonsense_Q200X,Nonsense_Q200X,Nonsense_Q200X exm147445 1 212988383 [T/G] NM_001146170,NM_001146169,NM_001042553,NM_001146171,NM_001042552 TATDN3,TATDN3,TATDN3,TATDN3,TATDN3 EXON Missense_I216S,Silent,Missense_I236S,Missense_I244S,Missense_I237S exm147448 1 212988479 [A/G] NM_001146170,NM_001146169,NM_001042553,NM_001146171,NM_001042552 TATDN3,TATDN3,TATDN3,TATDN3,TATDN3 EXON Missense_R248Q,Silent,Missense_R268Q,Missense_R276Q,Missense_R269Q exm147453 1 213009337 [A/G] NM_001024601 C1orf227 EXON Missense_P52L exm147454 1 213009383 [A/G] NM_001024601 C1orf227 EXON Nonsense_R37X exm147455 1 213009386 [T/C] NM_001024601 C1orf227 EXON Missense_E36K exm147458 1 213009469 [A/G] NM_001024601 C1orf227 EXON Missense_I8T exm147477 1 213032371 [C/G] NM_014053 FLVCR1 EXON Missense_G193R exm147480 1 213032389 [T/C] NM_014053 FLVCR1 EXON Missense_L199F exm147489 1 213046073 [A/G] NM_014053 FLVCR1 EXON Missense_D313N exm147490 1 213046088 [A/G] NM_014053 FLVCR1 EXON Missense_E318K exm147491 1 213046098 [A/G] NM_014053 FLVCR1 EXON Missense_Y321C exm147499 1 213058700 [T/G] NM_014053 FLVCR1 EXON Missense_I386M exm147526 1 213068583 [A/G] NM_014053 FLVCR1 EXON Missense_Q540R exm147527 1 213068588 [T/C] NM_014053 FLVCR1 EXON Missense_P542S exm147528 1 213068595 [T/C] NM_014053 FLVCR1 EXON Missense_T544M exm147530 1 213068621 [T/G] NM_014053 FLVCR1 EXON Missense_S553A exm2268827 1 213073013 [T/C] exm1759265 1 213125026 [A/C] NM_024749,NM_001136475,NM_001136474 VASH2,VASH2,VASH2 EXON Missense_L48M,Silent,Silent exm147555 1 213145948 [T/C] NM_024749,NM_001136475,NM_001136474 VASH2,VASH2,VASH2 EXON Missense_I131T,Missense_I71T,Missense_I110T exm147563 1 213146166 [A/C] NM_024749,NM_001136475,NM_001136474 VASH2,VASH2,VASH2 EXON Missense_I204L,Missense_I144L,Missense_I183L exm147574 1 213146292 [A/C] NM_024749,NM_001136475,NM_001136474 VASH2,VASH2,VASH2 EXON Missense_M246L,Missense_M186L,Missense_M225L exm147581 1 213147399 [T/C] NM_024749,NM_001136475,NM_001136474 VASH2,VASH2,VASH2 EXON Missense_R284W,Missense_R224W,Missense_R263W exm147582 1 213147400 [A/G] NM_024749,NM_001136475,NM_001136474 VASH2,VASH2,VASH2 EXON Missense_R284Q,Missense_R224Q,Missense_R263Q exm2273348 1 213161939 [A/G] NM_024749,NM_001136475,NM_001136474 VASH2,VASH2,VASH2 EXON Silent,Silent,Silent exm147593 1 213168459 [C/G] NM_144567 ANGEL2 EXON Missense_T520S exm147602 1 213170649 [A/T] NM_144567 ANGEL2 EXON Missense_N444I exm147605 1 213173696 [T/G] NM_144567 ANGEL2 EXON Missense_Q431K exm147618 1 213178473 [T/C] NM_144567 ANGEL2 EXON Missense_I346V exm147623 1 213178551 [T/C] NM_144567 ANGEL2 EXON Missense_I320V exm147632 1 213178764 [T/C] NM_144567 ANGEL2 EXON Missense_R249G exm147643 1 213181619 [T/C] NM_144567 ANGEL2 EXON Missense_R192Q exm147644 1 213181620 [A/G] NM_144567 ANGEL2 EXON Missense_R192W exm2232450 1 213186591 [T/G] NM_144567 ANGEL2 EXON Missense_N77H exm147660 1 213186688 [C/G] NM_144567 ANGEL2 EXON Missense_R44S exm147673 1 213244366 [A/C] NM_012424,NM_001136138 RPS6KC1,RPS6KC1 EXON Missense_P42T,Silent exm147677 1 213251113 [T/C] NM_012424,NM_001136138 RPS6KC1,RPS6KC1 EXON Nonsense_R73X,Nonsense_R61X exm147682 1 213277873 [C/G] NM_012424,NM_001136138 RPS6KC1,RPS6KC1 EXON Missense_A114P,Missense_A102P exm147694 1 213303007 [G/C] NM_012424,NM_001136138 RPS6KC1,RPS6KC1 EXON Missense_L204V,Missense_L192V exm2275544 1 213303165 [A/C] NM_012424,NM_001136138 RPS6KC1,RPS6KC1 EXON Missense_E256D,Missense_E244D exm1760074 1 213303165 [A/G] NM_012424,NM_001136138 RPS6KC1,RPS6KC1 EXON Synonymous_E256E,Synonymous_E244E exm147703 1 213303178 [A/G] NM_012424,NM_001136138 RPS6KC1,RPS6KC1 EXON Missense_A261T,Missense_A249T exm147707 1 213341218 [T/C] NM_012424,NM_001136138 RPS6KC1,RPS6KC1 EXON Missense_R285C,Missense_R273C exm147712 1 213349747 [T/C] NM_012424,NM_001136138 RPS6KC1,RPS6KC1 EXON Missense_P319L,Missense_P307L exm147726 1 213405593 [T/C] NM_012424,NM_001136138 RPS6KC1,RPS6KC1 EXON Missense_A407V,Missense_A395V exm147729 1 213414090 [T/C] NM_012424,NM_001136138 RPS6KC1,RPS6KC1 EXON Missense_P424L,Missense_P412L exm147735 1 213414243 [C/G] NM_012424,NM_001136138 RPS6KC1,RPS6KC1 EXON Missense_S475T,Missense_S463T exm147737 1 213414285 [A/G] NM_012424,NM_001136138 RPS6KC1,RPS6KC1 EXON Missense_D489G,Missense_D477G exm147741 1 213414299 [T/C] NM_012424,NM_001136138 RPS6KC1,RPS6KC1 EXON Missense_S494P,Missense_S482P exm147750 1 213414479 [T/C] NM_012424,NM_001136138 RPS6KC1,RPS6KC1 EXON Missense_L554F,Missense_L542F exm147751 1 213414501 [G/C] NM_012424,NM_001136138 RPS6KC1,RPS6KC1 EXON Missense_P561R,Missense_P549R exm147753 1 213414543 [A/G] NM_012424,NM_001136138 RPS6KC1,RPS6KC1 EXON Missense_N575S,Missense_N563S exm147759 1 213414734 [A/G] NM_012424,NM_001136138 RPS6KC1,RPS6KC1 EXON Missense_D639N,Missense_D627N exm147761 1 213414759 [C/G] NM_012424,NM_001136138 RPS6KC1,RPS6KC1 EXON Missense_T647S,Missense_T635S exm147768 1 213415122 [A/G] NM_012424,NM_001136138 RPS6KC1,RPS6KC1 EXON Missense_Y768C,Missense_Y756C exm147775 1 213415378 [T/G] NM_012424,NM_001136138 RPS6KC1,RPS6KC1 EXON Missense_L853F,Missense_L841F exm147776 1 213415395 [A/C] NM_012424,NM_001136138 RPS6KC1,RPS6KC1 EXON Missense_T859N,Missense_T847N exm147783 1 213415595 [A/G] NM_012424,NM_001136138 RPS6KC1,RPS6KC1 EXON Missense_V926M,Missense_V914M exm2265080 1 213527242 [A/G] exm2264949 1 213743905 [A/G] exm-rs17021090 1 213781198 [A/G] exm2268972 1 214043216 [T/G] exm-rs340874 1 214159256 [T/C] exm147809 1 214170134 [T/C] NM_001270616,NM_002763 PROX1,PROX1 EXON Missense_P86S,Missense_P86S exm147826 1 214170837 [T/C] NM_001270616,NM_002763 PROX1,PROX1 EXON Missense_M320T,Missense_M320T exm147827 1 214170885 [A/C] NM_001270616,NM_002763 PROX1,PROX1 EXON Missense_H336P,Missense_H336P exm2250721 1 214402313 [A/G] exm147862 1 214488172 [T/C] NM_020197 SMYD2 EXON Missense_P102L exm147875 1 214492286 [A/G] NM_020197 SMYD2 EXON Missense_G165E exm147876 1 214492289 [T/G] NM_020197 SMYD2 EXON Missense_F166C exm147893 1 214504351 [A/G] NM_020197 SMYD2 EXON Missense_R292Q exm147906 1 214507580 [A/G] NM_020197 SMYD2 EXON Missense_M384V exm147907 1 214507610 [T/G] NM_020197 SMYD2 EXON Missense_G394C exm147910 1 214510115 [T/G] NM_020197 SMYD2 EXON Missense_I430M exm2250722 1 214531313 [A/G] NM_005401 PTPN14 EXON Synonymous_F1172F exm147923 1 214537946 [A/G] NM_005401 PTPN14 EXON Missense_P1115L exm147932 1 214542847 [A/G] NM_005401 PTPN14 EXON Missense_T1075I exm147933 1 214542868 [A/G] NM_005401 PTPN14 EXON Missense_T1068M exm147935 1 214542910 [A/G] NM_005401 PTPN14 EXON Missense_T1054M exm147937 1 214542934 [G/C] NM_005401 PTPN14 EXON Missense_T1046R exm147951 1 214549699 [T/C] NM_005401 PTPN14 EXON Missense_I924V exm147960 1 214551360 [T/C] NM_005401 PTPN14 EXON Missense_R877Q exm147965 1 214551420 [T/C] NM_005401 PTPN14 EXON Missense_G857D exm147967 1 214556683 [T/C] NM_005401 PTPN14 EXON Missense_S839G exm147978 1 214556873 [T/C] NM_005401 PTPN14 EXON Missense_M775I exm147980 1 214556913 [T/C] NM_005401 PTPN14 EXON Missense_G762E exm147986 1 214557015 [T/C] NM_005401 PTPN14 EXON Missense_R728Q exm148001 1 214557189 [A/G] NM_005401 PTPN14 EXON Missense_T670M exm148002 1 214557196 [A/G] NM_005401 PTPN14 EXON Missense_R668C exm148012 1 214557424 [T/C] NM_005401 PTPN14 EXON Missense_G592S exm1760791 1 214557430 [T/C] NM_005401 PTPN14 EXON Missense_V590I exm148023 1 214557552 [C/G] NM_005401 PTPN14 EXON Missense_G549A exm148028 1 214557615 [A/G] NM_005401 PTPN14 EXON Missense_P528L exm148030 1 214557685 [A/C] NM_005401 PTPN14 EXON Missense_V505F exm148032 1 214557706 [T/C] NM_005401 PTPN14 EXON Missense_V498I exm148033 1 214557727 [A/G] NM_005401 PTPN14 EXON Missense_R491W exm148035 1 214557774 [T/C] NM_005401 PTPN14 EXON Missense_H475R exm2250723 1 214557815 [A/G] NM_005401 PTPN14 EXON Synonymous_S461S exm148037 1 214557815 [A/G] NM_005401 PTPN14 EXON Synonymous_S461S exm148046 1 214557945 [T/C] NM_005401 PTPN14 EXON Missense_S418N exm148053 1 214558119 [T/G] NM_005401 PTPN14 EXON Missense_H360P exm148060 1 214560201 [A/G] NM_005401 PTPN14 EXON Missense_T351M exm148073 1 214568242 [T/C] NM_005401 PTPN14 EXON Synonymous_T282T exm148080 1 214575066 [A/G] NM_005401 PTPN14 EXON Missense_R211C exm148087 1 214576241 [T/C] NM_005401 PTPN14 EXON Missense_E189G exm148104 1 214625224 [T/C] NM_005401 PTPN14 EXON Missense_A90T exm148108 1 214625316 [A/G] NM_005401 PTPN14 EXON Missense_T59M exm2268828 1 214668462 [T/C] NM_005401 PTPN14 Silent exm148129 1 214791951 [T/C] NM_016343 CENPF EXON Missense_A132V exm148141 1 214794043 [A/G] NM_016343 CENPF EXON Missense_I207V exm148142 1 214794049 [T/C] NM_016343 CENPF EXON Missense_R209W exm148143 1 214794059 [A/C] NM_016343 CENPF EXON Missense_A212D exm148148 1 214794191 [A/G] NM_016343 CENPF EXON Missense_R256Q exm148154 1 214795454 [T/C] NM_016343 CENPF EXON Missense_R300C exm148158 1 214795521 [T/C] NM_016343 CENPF EXON Missense_L322P exm148163 1 214795611 [A/G] NM_016343 CENPF EXON Missense_Q352R exm148166 1 214802390 [A/G] NM_016343 CENPF EXON Missense_Y357C exm148168 1 214802465 [A/G] NM_016343 CENPF EXON Missense_R382K exm148173 1 214803925 [A/C] NM_016343 CENPF EXON Missense_I415L exm148185 1 214811244 [C/G] NM_016343 CENPF EXON Missense_H494Q exm148186 1 214811279 [A/T] NM_016343 CENPF EXON Missense_E506V exm148189 1 214813267 [A/G] NM_016343 CENPF EXON Missense_K529R exm148202 1 214813601 [C/G] NM_016343 CENPF EXON Missense_L640F exm148209 1 214813782 [A/G] NM_016343 CENPF EXON Missense_M701V exm148211 1 214813941 [G/C] NM_016343 CENPF EXON Missense_Q754E exm148214 1 214814059 [T/G] NM_016343 CENPF EXON Missense_M793R exm148215 1 214814079 [A/G] NM_016343 CENPF EXON Missense_I800V exm148217 1 214814125 [A/G] NM_016343 CENPF EXON Missense_R815H exm148219 1 214814276 [A/C] NM_016343 CENPF EXON Missense_E865D exm148236 1 214814733 [T/G] NM_016343 CENPF EXON Missense_Y1018D exm148238 1 214814778 [A/G] NM_016343 CENPF EXON Missense_G1033R exm148240 1 214814794 [A/G] NM_016343 CENPF EXON Missense_D1038G exm148242 1 214814814 [A/G] NM_016343 CENPF EXON Missense_A1045T exm148246 1 214814995 [T/C] NM_016343 CENPF EXON Missense_T1105I exm148255 1 214815116 [A/T] NM_016343 CENPF EXON Missense_E1145D exm148261 1 214815298 [A/G] NM_016343 CENPF EXON Missense_Y1206C exm148262 1 214815304 [T/C] NM_016343 CENPF EXON Missense_A1208V exm1760975 1 214815438 [T/A] NM_016343 CENPF EXON Missense_M1253L exm148270 1 214815484 [C/G] NM_016343 CENPF EXON Missense_A1268G exm148271 1 214815492 [A/G] NM_016343 CENPF EXON Missense_K1271E exm148274 1 214815567 [A/G] NM_016343 CENPF EXON Missense_T1296A exm1760977 1 214815609 [C/G] NM_016343 CENPF EXON Missense_L1310V exm148288 1 214815888 [T/C] NM_016343 CENPF EXON Missense_H1403Y exm148290 1 214815916 [T/C] NM_016343 CENPF EXON Missense_L1412S exm148291 1 214815970 [G/C] NM_016343 CENPF EXON Missense_S1430C exm148292 1 214815994 [A/G] NM_016343 CENPF EXON Missense_Y1438C exm148294 1 214816029 [A/T] NM_016343 CENPF EXON Missense_S1450T exm148296 1 214816036 [A/G] NM_016343 CENPF EXON Missense_N1452S exm2273743 1 214816198 [T/G] NM_016343 CENPF EXON Missense_M1506R exm148302 1 214816201 [T/C] NM_016343 CENPF EXON Missense_S1507F exm148303 1 214816224 [A/G] NM_016343 CENPF EXON Missense_A1515T exm148304 1 214816263 [T/C] NM_016343 CENPF EXON Missense_C1528R exm148306 1 214816297 [A/G] NM_016343 CENPF EXON Missense_K1539R exm148307 1 214816309 [T/C] NM_016343 CENPF EXON Missense_S1543L exm148326 1 214817958 [T/C] NM_016343 CENPF EXON Missense_T1682I exm148329 1 214818021 [A/G] NM_016343 CENPF EXON Missense_N1703S exm148332 1 214818155 [A/G] NM_016343 CENPF EXON Missense_E1748K exm148333 1 214818215 [A/G] NM_016343 CENPF EXON Missense_D1768N exm148335 1 214818223 [T/A] NM_016343 CENPF EXON Missense_H1770Q exm148337 1 214818291 [A/G] NM_016343 CENPF EXON Missense_R1793H exm148351 1 214818548 [T/C] NM_016343 CENPF EXON Missense_R1879C exm148354 1 214818627 [A/G] NM_016343 CENPF EXON Missense_S1905N exm148355 1 214818678 [A/G] NM_016343 CENPF EXON Missense_E1922G exm148357 1 214818803 [T/C] NM_016343 CENPF EXON Missense_R1964C exm148358 1 214818804 [A/G] NM_016343 CENPF EXON Missense_R1964H exm148360 1 214818821 [A/G] NM_016343 CENPF EXON Missense_M1970V exm148364 1 214818837 [T/C] NM_016343 CENPF EXON Missense_T1975M exm148365 1 214818846 [A/G] NM_016343 CENPF EXON Missense_D1978G exm148368 1 214818912 [A/G] NM_016343 CENPF EXON Missense_H2000R exm148369 1 214818939 [T/C] NM_016343 CENPF EXON Missense_V2009A exm148370 1 214818945 [A/C] NM_016343 CENPF EXON Missense_E2011A exm148371 1 214818951 [T/C] NM_016343 CENPF EXON Missense_T2013M exm148373 1 214819026 [A/C] NM_016343 CENPF EXON Missense_Q2038P exm148374 1 214819044 [T/C] NM_016343 CENPF EXON Missense_S2044L exm148375 1 214819068 [A/G] NM_016343 CENPF EXON Missense_C2052Y exm1760994 1 214819128 [A/C] NM_016343 CENPF EXON Missense_S2072Y exm148382 1 214819328 [A/G] NM_016343 CENPF EXON Missense_A2139T exm148384 1 214819352 [T/C] NM_016343 CENPF EXON Missense_R2147W exm148388 1 214819445 [A/G] NM_016343 CENPF EXON Missense_E2178K exm148389 1 214819463 [A/G] NM_016343 CENPF EXON Missense_V2184I exm148397 1 214819581 [A/G] NM_016343 CENPF EXON Missense_Q2223R exm148398 1 214819587 [A/G] NM_016343 CENPF EXON Missense_Q2225R exm148402 1 214819739 [T/G] NM_016343 CENPF EXON Missense_C2276G exm148404 1 214819757 [A/G] NM_016343 CENPF EXON Missense_M2282V exm148408 1 214819791 [T/C] NM_016343 CENPF EXON Missense_I2293T exm148409 1 214819818 [A/G] NM_016343 CENPF EXON Missense_S2302N exm148411 1 214819838 [T/C] NM_016343 CENPF EXON Missense_R2309C exm148413 1 214819850 [A/G] NM_016343 CENPF EXON Missense_D2313N exm148418 1 214819980 [T/C] NM_016343 CENPF EXON Missense_A2356V exm148422 1 214820079 [G/C] NM_016343 CENPF EXON Missense_T2389S exm148423 1 214820099 [A/G] NM_016343 CENPF EXON Missense_N2396D exm148427 1 214820239 [A/G] NM_016343 CENPF EXON Missense_M2442I exm148429 1 214820265 [A/G] NM_016343 CENPF EXON Missense_N2451S exm148440 1 214820468 [A/G] NM_016343 CENPF EXON Missense_K2519E exm148448 1 214820570 [A/G] NM_016343 CENPF EXON Missense_E2553K exm1761003 1 214820634 [T/C] NM_016343 CENPF EXON Missense_S2574F exm148449 1 214820666 [A/G] NM_016343 CENPF EXON Missense_V2585M exm148469 1 214826196 [A/G] NM_016343 CENPF EXON Missense_R2729Q exm1761019 1 214826321 [A/G] NM_016343 CENPF EXON Missense_K2771E exm148484 1 214830299 [A/G] NM_016343 CENPF EXON Missense_D2837N exm148506 1 214836950 [A/G] NM_016343 CENPF EXON Missense_R3053Q exm148512 1 214837110 [C/G] NM_016343 CENPF EXON Missense_N3106K exm-rs12734277 1 214962771 [T/C] exm2263849 1 215154120 [A/C] exm148525 1 215259714 [T/C] NM_001017424,NM_001017425,NM_014217 KCNK2,KCNK2,KCNK2 EXON Missense_A13V,Missense_A17V,Missense_A32V exm2268973 1 215277616 [T/C] NM_001017424,NM_001017425,NM_014217 KCNK2,KCNK2,KCNK2 Silent,Silent,Silent exm1761204 1 215298010 [T/C] NM_001017424,NM_001017425,NM_014217 KCNK2,KCNK2,KCNK2 EXON Missense_P127L,Missense_P131L,Missense_P146L exm2250729 1 215368303 [T/C] NM_001017424,NM_001017425,NM_014217 KCNK2,KCNK2,KCNK2 EXON Synonymous_S273S,Synonymous_S277S,Synonymous_S292S exm148582 1 215752436 [T/C] NM_016121 KCTD3 EXON Missense_T164I exm148594 1 215759981 [A/G] NM_016121 KCTD3 EXON Missense_S257N exm148618 1 215792511 [T/C] NM_016121 KCTD3 EXON Synonymous_T588T exm2250736 1 215792511 [T/C] NM_016121 KCTD3 EXON Synonymous_T588T exm148634 1 215793935 [A/C] NM_016121 KCTD3 EXON Missense_S808Y exm148637 1 215799170 [T/C] NM_206933 USH2A EXON Missense_S5188G exm148641 1 215802169 [T/C] NM_206933 USH2A EXON Missense_H5169R exm148642 1 215802181 [C/G] NM_206933 USH2A EXON Missense_A5165G exm148644 1 215802242 [T/C] NM_206933 USH2A EXON Missense_V5145I exm148647 1 215802248 [A/G] NM_206933 USH2A EXON Missense_R5143C exm148648 1 215802298 [A/G] NM_206933 USH2A EXON Missense_I5126T exm148649 1 215802301 [T/C] NM_206933 USH2A EXON Missense_R5125H exm148650 1 215802311 [A/G] NM_206933 USH2A EXON Missense_C5122R exm148666 1 215808007 [A/G] NM_206933 USH2A EXON Missense_R5031W exm148667 1 215808022 [T/C] NM_206933 USH2A EXON Missense_K5026E exm148671 1 215812520 [A/T] NM_206933 USH2A EXON Missense_Q5010L exm148674 1 215812556 [A/G] NM_206933 USH2A EXON Missense_T4998M exm148676 1 215813908 [A/G] NM_206933 USH2A EXON Missense_A4987V exm148679 1 215813951 [T/C] NM_206933 USH2A EXON Missense_V4973M exm148680 1 215813959 [T/C] NM_206933 USH2A EXON Missense_G4970E exm148687 1 215814064 [T/C] NM_206933 USH2A EXON Missense_R4935Q exm148691 1 215820902 [A/G] NM_206933 USH2A EXON Missense_T4918M exm148698 1 215821885 [T/C] NM_206933 USH2A EXON Missense_N4856S exm148699 1 215821909 [T/C] NM_206933 USH2A EXON Missense_R4848Q exm148702 1 215821933 [A/G] NM_206933 USH2A EXON Missense_L4840P exm148705 1 215821939 [T/C] NM_206933 USH2A EXON Missense_G4838E exm2250737 1 215821941 [A/G] NM_206933 USH2A EXON Synonymous_I4837I exm148713 1 215822039 [T/C] NM_206933 USH2A EXON Missense_V4805I exm148721 1 215823944 [T/G] NM_206933 USH2A EXON Missense_A4778D exm148725 1 215823962 [A/G] NM_206933 USH2A EXON Missense_S4772F exm148726 1 215824001 [T/C] NM_206933 USH2A EXON Missense_G4759E exm148732 1 215824086 [T/C] NM_206933 USH2A EXON Missense_G4731R exm148738 1 215844373 [T/C] NM_206933 USH2A EXON Missense_G4692R exm148742 1 215844463 [C/G] NM_206933 USH2A EXON Missense_Q4662E exm148756 1 215847544 [T/C] NM_206933 USH2A EXON Missense_R4570H exm148767 1 215847763 [T/A] NM_206933 USH2A EXON Missense_F4497Y exm148769 1 215847775 [T/C] NM_206933 USH2A EXON Missense_R4493H exm148770 1 215847776 [A/G] NM_206933 USH2A EXON Missense_R4493C exm148774 1 215847857 [A/G] NM_206933 USH2A EXON Missense_P4466S exm148777 1 215847892 [T/A] NM_206933 USH2A EXON Missense_V4454D exm148778 1 215847910 [T/C] NM_206933 USH2A EXON Missense_D4448G exm148779 1 215847956 [A/C] NM_206933 USH2A EXON Missense_V4433L exm148792 1 215848154 [T/C] NM_206933 USH2A EXON Missense_V4367I exm148800 1 215848370 [T/C] NM_206933 USH2A EXON Missense_I4295V exm148805 1 215848430 [T/A] NM_206933 USH2A EXON Missense_S4275T exm148807 1 215848436 [A/G] NM_206933 USH2A EXON Missense_Y4273H exm148809 1 215848510 [T/C] NM_206933 USH2A EXON Missense_H4248R exm148813 1 215848586 [A/G] NM_206933 USH2A EXON Missense_F4223L exm148821 1 215848645 [T/C] NM_206933 USH2A EXON Missense_Q4203R exm148822 1 215848655 [A/C] NM_206933 USH2A EXON Missense_W4200G exm148824 1 215848678 [T/C] NM_206933 USH2A EXON Missense_R4192H exm148826 1 215848696 [A/G] NM_206933 USH2A EXON Missense_I4186T exm148827 1 215848748 [T/C] NM_206933 USH2A EXON Missense_T4169A exm148831 1 215848808 [A/G] NM_206933 USH2A EXON Missense_W4149R exm148835 1 215848861 [A/G] NM_206933 USH2A EXON Missense_T4131I exm148838 1 215848910 [A/G] NM_206933 USH2A EXON Missense_R4115C exm148840 1 215848921 [A/G] NM_206933 USH2A EXON Missense_S4111F exm148846 1 215853544 [A/G] NM_206933 USH2A EXON Missense_R4081W exm148849 1 215853640 [T/C] NM_206933 USH2A EXON Missense_A4049T exm2268829 1 215862696 [T/C] NM_206933 USH2A Silent exm148861 1 215901392 [T/C] NM_206933 USH2A EXON Missense_V4016M exm148868 1 215901511 [A/G] NM_206933 USH2A EXON Missense_T3976M exm148873 1 215901574 [T/C] NM_206933 USH2A EXON Nonsense_W3955X exm148878 1 215901623 [T/C] NM_206933 USH2A EXON Missense_E3939K exm148884 1 215914751 [T/G] NM_206933 USH2A EXON Missense_P3893T exm148888 1 215914826 [T/C] NM_206933 USH2A EXON Missense_M3868V exm148889 1 215914831 [A/G] NM_206933 USH2A EXON Missense_A3866V exm148895 1 215916563 [A/G] NM_206933 USH2A EXON Missense_T3835I exm148896 1 215916600 [T/C] NM_206933 USH2A EXON Missense_V3823I exm148902 1 215916663 [T/C] NM_206933 USH2A EXON Missense_E3802K exm148910 1 215933008 [T/C] NM_206933 USH2A EXON Missense_N3742S exm148912 1 215933042 [C/G] NM_206933 USH2A EXON Missense_E3731Q exm148916 1 215933138 [T/C] NM_206933 USH2A EXON Missense_E3699K exm148919 1 215933187 [T/C] NM_206933 USH2A Silent exm148921 1 215940062 [T/C] NM_206933 USH2A EXON Missense_E3670K exm148933 1 215953355 [A/G] NM_206933 USH2A EXON Missense_P3590L exm148940 1 215955515 [A/G] NM_206933 USH2A EXON Missense_L3537F exm148944 1 215956101 [T/C] NM_206933 USH2A EXON Missense_R3522G exm148946 1 215956113 [T/C] NM_206933 USH2A EXON Missense_V3518I exm148948 1 215956155 [G/C] NM_206933 USH2A EXON Missense_P3504A exm148951 1 215956178 [T/G] NM_206933 USH2A EXON Missense_E3496A exm1761498 1 215960087 [T/C] NM_206933 USH2A EXON Missense_A3438T exm148967 1 215960138 [T/G] NM_206933 USH2A EXON Missense_T3421P exm148971 1 215960167 [T/G] NM_206933 USH2A EXON Missense_E3411A exm148978 1 215963510 [T/C] NM_206933 USH2A EXON Missense_C3358Y exm148987 1 215972336 [T/C] NM_206933 USH2A EXON Missense_G3291S exm148989 1 215972392 [A/G] NM_206933 USH2A EXON Missense_P3272L exm1761510 1 215972394 [T/C] NM_206933 USH2A EXON Missense_M3271I exm148995 1 215987194 [T/G] NM_206933 USH2A EXON Missense_E3208A exm148997 1 215987222 [T/C] NM_206933 USH2A EXON Missense_N3199D exm149015 1 215990479 [T/C] NM_206933 USH2A EXON Missense_D3144N exm2232467 1 215990508 [T/C] NM_206933 USH2A EXON Missense_R3134Q exm149020 1 216011348 [T/C] NM_206933 USH2A EXON Missense_R3119H exm149022 1 216011361 [T/C] NM_206933 USH2A EXON Missense_T3115A exm1761523 1 216011364 [A/G] NM_206933 USH2A EXON Missense_P3114S exm149025 1 216011397 [T/C] NM_206933 USH2A EXON Missense_I3103V exm149026 1 216011408 [T/C] NM_206933 USH2A EXON Missense_N3099S exm149028 1 216011418 [T/C] NM_206933 USH2A EXON Missense_V3096M exm149033 1 216017691 [A/G] NM_206933 USH2A EXON Missense_V3068A exm149038 1 216019184 [T/C] NM_206933 USH2A EXON Missense_A3013T exm149041 1 216019213 [A/G] NM_206933 USH2A EXON Missense_V3003A exm149051 1 216040405 [T/C] NM_206933 USH2A EXON Missense_N2930S exm149058 1 216051125 [A/G] NM_206933 USH2A EXON Missense_L2886F exm149062 1 216051157 [T/C] NM_206933 USH2A EXON Missense_R2875Q exm149063 1 216051172 [A/G] NM_206933 USH2A EXON Missense_P2870L exm149064 1 216051181 [A/G] NM_206933 USH2A EXON Missense_S2867L exm149067 1 216051206 [A/G] NM_206933 USH2A EXON Missense_R2859C exm149070 1 216052307 [A/G] NM_206933 USH2A EXON Missense_F2786S exm1761557 1 216052322 [A/G] NM_206933 USH2A EXON Missense_T2781I exm149071 1 216052344 [T/C] NM_206933 USH2A EXON Missense_A2774T exm149073 1 216052349 [A/G] NM_206933 USH2A EXON Missense_T2772I exm149088 1 216062273 [T/C] NM_206933 USH2A EXON Missense_R2573H exm149090 1 216062306 [A/G] NM_206933 USH2A EXON Missense_V2562A exm149094 1 216062396 [T/G] NM_206933 USH2A EXON Missense_K2532T exm149100 1 216073470 [T/C] NM_206933 USH2A EXON Missense_N2514S exm149133 1 216108098 [A/G] NM_206933 USH2A EXON Missense_M2387T exm149134 1 216108128 [T/C] NM_206933 USH2A EXON Missense_N2377S exm1761614 1 216138711 [A/C] NM_206933 USH2A EXON Missense_N2356K exm149137 1 216138718 [T/C] NM_206933 USH2A EXON Missense_R2354H exm149138 1 216138719 [A/G] NM_206933 USH2A EXON Missense_R2354C exm149146 1 216138781 [A/G] NM_206933 USH2A EXON Missense_V2333A exm149147 1 216138790 [T/C] NM_206933 USH2A EXON Missense_E2330G exm149149 1 216143987 [A/C] NM_206933 USH2A EXON Missense_G2313C exm149151 1 216143995 [A/G] NM_206933 USH2A EXON Missense_T2310M exm149155 1 216144049 [T/C] NM_206933 USH2A EXON Missense_R2292H exm149161 1 216166454 [T/G] NM_206933 USH2A EXON Missense_E2238A exm1761622 1 216166484 [A/T] NM_206933 USH2A EXON Missense_V2228E exm149164 1 216166497 [A/C] NM_206933 USH2A EXON Missense_G2224C exm149165 1 216172258 [G/C] NM_206933 USH2A EXON Missense_P2210A exm149168 1 216172296 [A/G] NM_206933 USH2A EXON Missense_T2197I exm149169 1 216172299 [C/G] NM_206933 USH2A EXON Missense_S2196T exm149177 1 216172380 [A/G] NM_206933 USH2A EXON Missense_I2169T exm149185 1 216173866 [A/C] NM_206933 USH2A EXON Missense_A2122S exm2263850 1 216193693 [A/C] NM_206933 USH2A Silent exm149187 1 216219781 [A/G] NM_206933 USH2A EXON Missense_I2106T exm149191 1 216219841 [T/G] NM_206933 USH2A EXON Missense_T2086N exm149192 1 216219858 [A/C] NM_206933 USH2A EXON Missense_K2080N exm149193 1 216219862 [T/G] NM_206933 USH2A EXON Missense_K2079T exm149195 1 216221905 [T/C] NM_206933 USH2A EXON Missense_H2045R exm149198 1 216221959 [T/G] NM_206933 USH2A EXON Missense_N2027T exm149199 1 216221962 [T/C] NM_206933 USH2A EXON Missense_K2026R exm149202 1 216243451 [T/G] NM_206933 USH2A EXON Missense_N2014T exm149207 1 216243491 [A/G] NM_206933 USH2A EXON Missense_R2001C exm149208 1 216243499 [T/C] NM_206933 USH2A EXON Missense_R1998H exm149210 1 216243512 [T/C] NM_206933 USH2A EXON Missense_E1994K exm149215 1 216243560 [A/G] NM_206933 USH2A EXON Missense_P1978S exm149217 1 216243602 [A/G] NM_206933 USH2A EXON Missense_R1964C exm149220 1 216243634 [C/G] NM_206933 USH2A EXON Missense_A1953G exm149234 1 216246591 [T/C] NM_206933 USH2A EXON Missense_N1875S exm149235 1 216246595 [A/C] NM_206933 USH2A EXON Missense_V1874F exm149238 1 216246603 [T/C] NM_206933 USH2A EXON Missense_G1871D exm149240 1 216246606 [T/C] NM_206933 USH2A EXON Missense_R1870Q exm149241 1 216246607 [A/G] NM_206933 USH2A EXON Missense_R1870W exm2250742 1 216251594 [C/G] NM_206933 USH2A EXON Synonymous_V1803V exm149248 1 216251594 [C/G] NM_206933 USH2A EXON Synonymous_V1803V exm149265 1 216258168 [T/C] NM_206933 USH2A EXON Missense_K1680R exm149267 1 216258213 [A/G] NM_206933 USH2A EXON Missense_I1665T exm149274 1 216262444 [T/C] NM_206933 USH2A EXON Missense_G1599D exm149275 1 216270469 [A/G] NM_206933 USH2A EXON Missense_L1572F exm149281 1 216270537 [T/C] NM_206933 USH2A EXON Missense_R1549Q exm149291 1 216348678 [T/C] NM_206933,NM_007123 USH2A,USH2A EXON Missense_T1515A,Missense_T1515A exm149292 1 216348689 [A/G] NM_206933,NM_007123 USH2A,USH2A EXON Missense_A1511V,Missense_A1511V exm149293 1 216348764 [T/C] NM_206933,NM_007123 USH2A,USH2A EXON Missense_R1486K,Missense_R1486K exm149302 1 216363618 [T/C] NM_206933,NM_007123 USH2A,USH2A EXON Missense_N1448S,Missense_N1448S exm149314 1 216370040 [A/G] NM_206933,NM_007123 USH2A,USH2A EXON Missense_S1369L,Missense_S1369L exm149324 1 216371797 [T/C] NM_206933,NM_007123 USH2A,USH2A EXON Missense_E1314G,Missense_E1314G exm149340 1 216373199 [A/G] NM_206933,NM_007123 USH2A,USH2A EXON Missense_P1194L,Missense_P1194L exm149351 1 216373385 [T/C] NM_206933,NM_007123 USH2A,USH2A EXON Missense_G1132D,Missense_G1132D exm149354 1 216373416 [A/C] NM_206933,NM_007123 USH2A,USH2A EXON Missense_S1122A,Missense_S1122A exm149357 1 216373460 [A/C] NM_206933,NM_007123 USH2A,USH2A EXON Missense_I1107S,Missense_I1107S exm149361 1 216380705 [A/G] NM_206933,NM_007123 USH2A,USH2A EXON Missense_P1076S,Missense_P1076S exm149365 1 216390763 [T/G] NM_206933,NM_007123 USH2A,USH2A EXON Missense_H1041Q,Missense_H1041Q exm149367 1 216390860 [A/G] NM_206933,NM_007123 USH2A,USH2A EXON Missense_A1009V,Missense_A1009V exm149374 1 216419934 [A/C] NM_206933,NM_007123 USH2A,USH2A EXON Missense_C934W,Missense_C934W exm149376 1 216419959 [T/C] NM_206933,NM_007123 USH2A,USH2A EXON Missense_R926H,Missense_R926H exm149379 1 216420103 [T/C] NM_206933,NM_007123 USH2A,USH2A EXON Missense_R878H,Missense_R878H exm149381 1 216420190 [T/C] NM_206933,NM_007123 USH2A,USH2A EXON Missense_C849Y,Missense_C849Y exm149382 1 216420214 [T/G] NM_206933,NM_007123 USH2A,USH2A EXON Missense_S841Y,Missense_S841Y exm149384 1 216420226 [T/C] NM_206933,NM_007123 USH2A,USH2A EXON Missense_R837Q,Missense_R837Q exm149387 1 216420277 [T/C] NM_206933,NM_007123 USH2A,USH2A EXON Missense_N820S,Missense_N820S exm149394 1 216420460 [A/C] NM_206933,NM_007123 USH2A,USH2A EXON Missense_C759F,Missense_C759F exm149399 1 216424275 [G/C] NM_206933,NM_007123 USH2A,USH2A EXON Missense_G713R,Missense_G713R exm149412 1 216462627 [T/C] NM_206933,NM_007123 USH2A,USH2A EXON Missense_D656N,Missense_D656N exm149413 1 216462662 [A/T] NM_206933,NM_007123 USH2A,USH2A EXON Missense_D644V,Missense_D644V exm149414 1 216462690 [T/C] NM_206933,NM_007123 USH2A,USH2A EXON Missense_I635V,Missense_I635V exm149426 1 216465694 [C/G] NM_206933,NM_007123 USH2A,USH2A EXON Missense_L555V,Missense_L555V exm1761714 1 216496849 [T/C] NM_206933,NM_007123 USH2A,USH2A EXON Missense_Y506C,Missense_Y506C exm149440 1 216496880 [T/G] NM_206933,NM_007123 USH2A,USH2A EXON Missense_T496P,Missense_T496P exm149442 1 216496918 [A/G] NM_206933,NM_007123 USH2A,USH2A EXON Missense_T483M,Missense_T483M exm149445 1 216496932 [C/G] NM_206933,NM_007123 USH2A,USH2A EXON Missense_E478D,Missense_E478D exm149454 1 216497654 [A/G] NM_206933,NM_007123 USH2A,USH2A EXON Missense_T395M,Missense_T395M exm149470 1 216538391 [T/C] NM_206933,NM_007123 USH2A,USH2A EXON Missense_V230M,Missense_V230M exm149480 1 216595201 [T/C] NM_206933,NM_007123 USH2A,USH2A EXON Missense_G160S,Missense_G160S exm149487 1 216595306 [T/C] NM_206933,NM_007123 USH2A,USH2A EXON Missense_A125T,Missense_A125T exm2259998 1 216655251 [A/C] exm149515 1 216680496 [T/C] NM_001243507,NM_001243509,NM_001243511,NM_001243512,NM_001243510,NM_001243519,NM_001243506,NM_001243513,NM_001438,NM_001134285,NM_001243518,NM_001243514,NM_001243515,NM_206595,NM_206594,NM_001243505 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG EXON Missense_V326I,Missense_V365I,Missense_V365I,Missense_V365I,Missense_V365I,Missense_V365I,Missense_V203I,Missense_V365I,Missense_V388I,Missense_V365I,Missense_V400I,Missense_V365I,Missense_V365I,Missense_V365I,Missense_V365I,Missense_V137I exm-rs12757165 1 216716537 [A/G] NM_001243507,NM_001243509,NM_001243511,NM_001243512,NM_001243510,NM_001243519,NM_001243506,NM_001243513,NM_001438,NM_001134285,NM_001243518,NM_001243514,NM_001243515,NM_206595,NM_206594,NM_001243505 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm149531 1 216737674 [T/C] NM_001243507,NM_001243509,NM_001243511,NM_001243512,NM_001243510,NM_001243519,NM_001243506,NM_001243513,NM_001438,NM_001134285,NM_001243518,NM_001243514,NM_001243515,NM_206595,NM_206594,NM_001243505 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG EXON Missense_Y188C,Missense_Y227C,Missense_Y227C,Missense_Y227C,Missense_Y227C,Missense_Y227C,Missense_Y65C,Missense_Y227C,Missense_Y250C,Missense_Y227C,Missense_Y262C,Missense_Y227C,Missense_Y227C,Missense_Y227C,Missense_Y227C,Silent exm149534 1 216741330 [T/A] NM_001243507,NM_001243509,NM_001243511,NM_001243512,NM_001243510,NM_001243519,NM_001243506,NM_001243513,NM_001438,NM_001134285,NM_001243518,NM_001243514,NM_001243515,NM_206595,NM_206594,NM_001243505 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG EXON Missense_Y172N,Missense_Y211N,Missense_Y211N,Missense_Y211N,Missense_Y211N,Missense_Y211N,Missense_Y49N,Missense_Y211N,Missense_Y234N,Missense_Y211N,Missense_L239M,Missense_Y211N,Missense_Y211N,Missense_Y211N,Missense_Y211N,Silent exm149546 1 216824430 [A/G] NM_001243507,NM_001243509,NM_001243511,NM_001243512,NM_001243510,NM_001243519,NM_001243506,NM_001243513,NM_001438,NM_001134285,NM_001243518,NM_001243514,NM_001243515,NM_206595,NM_206594,NM_001243505 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG EXON Silent,Synonymous_G135G,Synonymous_G135G,Synonymous_G135G,Synonymous_G135G,Synonymous_G135G,Silent,Synonymous_G135G,Synonymous_G158G,Synonymous_G135G,Synonymous_G163G,Synonymous_G135G,Synonymous_G135G,Synonymous_G135G,Synonymous_G135G,Silent exm1761776 1 216850733 [T/C] NM_001243507,NM_001243509,NM_001243511,NM_001243512,NM_001243510,NM_001243519,NM_001243506,NM_001243513,NM_001438,NM_001134285,NM_001243518,NM_001243514,NM_001243515,NM_206595,NM_206594,NM_001243505 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG EXON Missense_V30I,Missense_V30I,Missense_V30I,Missense_V30I,Missense_V30I,Missense_V30I,Silent,Missense_V30I,Missense_V53I,Missense_V30I,Missense_V58I,Missense_V30I,Missense_V30I,Missense_V30I,Missense_V30I,Silent exm2250745 1 216856115 [A/G] NM_001243507,NM_001243509,NM_001243511,NM_001243512,NM_001243510,NM_001243519,NM_001243506,NM_001243513,NM_001438,NM_001134285,NM_001243518,NM_001243514,NM_001243515,NM_206595,NM_206594,NM_001243505 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm-rs1436900 1 217058479 [T/C] NM_001243507,NM_001243509,NM_001243511,NM_001243512,NM_001243510,NM_001243506,NM_001243513,NM_001134285,NM_206595,NM_206594,NM_001243505 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm2268830 1 217308047 [T/C] NM_001134285 ESRRG Silent exm-rs10495049 1 217429135 [T/C] exm2260001 1 217511930 [A/G] exm-rs1497828 1 217527024 [G/C] exm149571 1 217604492 [T/C] NM_018040 GPATCH2 EXON Missense_A528T exm149573 1 217604506 [T/C] NM_018040 GPATCH2 EXON Missense_N523S exm149574 1 217604522 [T/C] NM_018040 GPATCH2 EXON Missense_A518T exm149578 1 217604632 [A/G] NM_018040 GPATCH2 EXON Missense_T481M exm149579 1 217604654 [T/C] NM_018040 GPATCH2 EXON Missense_M474V exm149584 1 217622647 [A/G] NM_018040 GPATCH2 EXON Missense_T437M exm149588 1 217665070 [T/C] NM_018040 GPATCH2 EXON Missense_R410Q exm149598 1 217784318 [T/C] NM_018040 GPATCH2 EXON Missense_T311A exm2273746 1 217784321 [T/G] NM_018040 GPATCH2 EXON Missense_P310T exm149605 1 217793129 [T/C] NM_018040 GPATCH2 EXON Missense_E257K exm149608 1 217793225 [T/C] NM_018040 GPATCH2 EXON Missense_D225N exm149611 1 217793375 [A/T] NM_018040 GPATCH2 EXON Missense_I175F exm149615 1 217793434 [T/G] NM_018040 GPATCH2 EXON Missense_N155T exm149618 1 217793494 [T/C] NM_018040 GPATCH2 EXON Missense_N135S exm149623 1 217793651 [C/G] NM_018040 GPATCH2 EXON Missense_E83Q exm149634 1 217804722 [T/C] NM_138796 SPATA17 EXON Missense_M1T exm149635 1 217804724 [A/G] NM_138796 SPATA17 EXON Missense_A2T exm149636 1 217804761 [T/C] NM_138796 SPATA17 EXON Missense_V14A exm149637 1 217804767 [A/G] NM_138796 SPATA17 EXON Missense_N16S exm149641 1 217822294 [G/C] NM_138796 SPATA17 EXON Missense_Q47E exm149658 1 217856610 [A/G] NM_138796 SPATA17 EXON Missense_R101Q exm149660 1 217856622 [A/G] NM_138796 SPATA17 EXON Missense_Y105C exm149668 1 217915416 [A/G] NM_138796 SPATA17 EXON Missense_M165I exm149683 1 217947826 [T/C] NM_138796 SPATA17 EXON Missense_R224C exm149686 1 217947856 [T/C] NM_138796 SPATA17 EXON Missense_P234S exm149694 1 217955552 [T/C] NM_138796 SPATA17 EXON Missense_R254C exm149695 1 217955553 [A/G] NM_138796 SPATA17 EXON Missense_R254H exm2268831 1 217971980 [T/C] NM_138796 SPATA17 Silent exm149703 1 217975185 [A/G] NM_138796 SPATA17 EXON Missense_C333Y exm2260003 1 218333601 [T/C] exm2250754 1 218370200 [T/C] exm149712 1 218458672 [T/C] NM_016052 RRP15 EXON Missense_A5V exm149715 1 218458753 [T/C] NM_016052 RRP15 EXON Missense_A32V exm149720 1 218475683 [A/G] NM_016052 RRP15 EXON Missense_I63V exm149725 1 218475847 [T/G] NM_016052 RRP15 EXON Missense_K117N exm149731 1 218478370 [T/C] NM_016052 RRP15 EXON Missense_R136C exm149735 1 218478411 [C/G] NM_016052 RRP15 EXON Missense_K149N exm149736 1 218478430 [A/G] NM_016052 RRP15 EXON Missense_K156E exm149738 1 218480832 [T/C] NM_016052 RRP15 EXON Missense_V188A exm149744 1 218480958 [A/G] NM_016052 RRP15 EXON Missense_K230R exm1761935 1 218480973 [A/G] NM_016052 RRP15 EXON Missense_Q235R exm149755 1 218520242 [A/G] NM_001135599,NM_003238 TGFB2,TGFB2 EXON Missense_V67M,Missense_V67M exm149758 1 218520315 [A/G] NM_001135599,NM_003238 TGFB2,TGFB2 EXON Missense_R91H,Missense_R91H exm149764 1 218578520 [T/C] NM_001135599,NM_003238 TGFB2,TGFB2 EXON Missense_P147L,Missense_P119L exm149773 1 218607532 [G/C] NM_001135599,NM_003238 TGFB2,TGFB2 EXON Missense_V235L,Missense_V207L exm149783 1 218609380 [A/G] NM_001135599,NM_003238 TGFB2,TGFB2 EXON Missense_S303G,Missense_S275G exm-rs993925 1 218860068 [T/C] exm2264952 1 218950403 [A/G] exm-rs2647116 1 219009835 [A/G] exm2268975 1 219110621 [T/C] exm1762188 1 219347282 [T/C] NM_138794 LYPLAL1 EXON Missense_A17V exm149813 1 219347314 [T/C] NM_138794 LYPLAL1 EXON Missense_H28Y exm1762202 1 219366463 [A/G] NM_138794 LYPLAL1 EXON Nonsense_W77X exm149821 1 219366546 [T/C] NM_138794 LYPLAL1 EXON Missense_I105T exm149827 1 219383905 [A/G] NM_138794 LYPLAL1 EXON Missense_I131M exm149829 1 219383940 [A/G] NM_138794 LYPLAL1 EXON Missense_G143E exm149838 1 219384945 [G/C] NM_138794 LYPLAL1 EXON Missense_L197V exm2264953 1 219465410 [A/G] exm-rs2605100 1 219644224 [A/G] exm-rs2791552 1 219652033 [A/C] exm-rs2785990 1 219687432 [T/C] exm-rs2785980 1 219700519 [T/C] exm-rs11118346 1 219743719 [T/C] exm-rs4846567 1 219750717 [T/G] exm2260007 1 220052720 [A/G] NR_002753 RNU5F-1 Silent exm2268833 1 220077269 [T/C] NR_002753 RNU5F-1 Silent exm149851 1 220088801 [A/G] NR_002753,NM_018713,NR_046437 RNU5F-1,SLC30A10,SLC30A10 EXON Silent,Missense_T483M,Silent exm149865 1 220088956 [T/G] NR_002753,NM_018713,NR_046437 RNU5F-1,SLC30A10,SLC30A10 EXON Silent,Missense_H431Q,Silent exm149866 1 220088961 [T/C] NR_002753,NM_018713,NR_046437 RNU5F-1,SLC30A10,SLC30A10 EXON Silent,Missense_E430K,Silent exm2273747 1 220100412 [T/C] NR_002753,NM_018713,NR_046437 RNU5F-1,SLC30A10,SLC30A10 EXON Silent,Missense_M226V,Silent exm149901 1 220142246 [T/C] NR_002753,NM_004446 RNU5F-1,EPRS EXON Silent,Missense_I1481V exm149914 1 220146709 [T/C] NR_002753,NM_004446 RNU5F-1,EPRS EXON Silent,Missense_R1372H exm149924 1 220151999 [A/C] NR_002753,NM_004446 RNU5F-1,EPRS EXON Silent,Missense_I1324M exm149934 1 220152863 [T/C] NR_002753,NM_004446 RNU5F-1,EPRS EXON Silent,Missense_Y1269C exm149935 1 220152884 [A/G] NR_002753,NM_004446 RNU5F-1,EPRS EXON Silent,Missense_P1262L exm149958 1 220156616 [T/C] NR_002753,NM_004446 RNU5F-1,EPRS EXON Silent,Missense_G1072D exm149960 1 220156670 [T/C] NR_002753,NM_004446 RNU5F-1,EPRS EXON Silent,Missense_Y1054C exm149963 1 220156704 [T/C] NR_002753,NM_004446 RNU5F-1,EPRS EXON Silent,Missense_I1043V exm149964 1 220156710 [A/G] NR_002753,NM_004446 RNU5F-1,EPRS EXON Silent,Missense_H1041Y exm149966 1 220157548 [T/C] NR_002753,NM_004446 RNU5F-1,EPRS EXON Silent,Synonymous_Q1030Q exm1762440 1 220160514 [T/C] NR_002753,NM_004446 RNU5F-1,EPRS EXON Silent,Missense_G1003E exm149971 1 220160715 [A/C] NR_002753,NM_004446 RNU5F-1,EPRS EXON Silent,Missense_L936R exm149975 1 220161934 [T/G] NR_002753,NM_004446 RNU5F-1,EPRS EXON Silent,Missense_K925Q exm149976 1 220161969 [T/C] NR_002753,NM_004446 RNU5F-1,EPRS EXON Silent,Missense_E913G exm149979 1 220162029 [T/G] NR_002753,NM_004446 RNU5F-1,EPRS EXON Silent,Missense_P893H exm149980 1 220162030 [T/G] NR_002753,NM_004446 RNU5F-1,EPRS EXON Silent,Missense_P893T exm149981 1 220162123 [G/C] NR_002753,NM_004446 RNU5F-1,EPRS EXON Silent,Missense_A862P exm149982 1 220162132 [T/A] NR_002753,NM_004446 RNU5F-1,EPRS EXON Silent,Missense_S859T exm149993 1 220170479 [A/C] NR_002753,NM_004446 RNU5F-1,EPRS EXON Silent,Missense_G796V exm150002 1 220174497 [T/C] NR_002753,NM_004446 RNU5F-1,EPRS EXON Silent,Missense_E722K exm150012 1 220179510 [T/C] NR_002753,NM_004446 RNU5F-1,EPRS EXON Silent,Missense_I630V exm150015 1 220179653 [T/C] NR_002753,NM_004446 RNU5F-1,EPRS EXON Silent,Missense_N582S exm150017 1 220180562 [T/C] NR_002753,NM_004446 RNU5F-1,EPRS EXON Silent,Missense_N575S exm150032 1 220191804 [A/G] NR_002753,NM_004446 RNU5F-1,EPRS EXON Silent,Missense_A494V exm150038 1 220193423 [T/C] NR_002753,NM_004446 RNU5F-1,EPRS EXON Silent,Missense_Y419C exm150046 1 220197625 [T/G] NR_002753,NM_004446 RNU5F-1,EPRS EXON Silent,Missense_D308E exm150048 1 220197663 [G/C] NR_002753,NM_004446 RNU5F-1,EPRS EXON Silent,Missense_A296P exm150072 1 220213564 [T/C] NR_002753,NM_004446 RNU5F-1,EPRS EXON Silent,Missense_V32I exm150085 1 220232191 [A/G] NR_002753,NM_006085 RNU5F-1,BPNT1 EXON Silent,Missense_P308S exm150093 1 220233090 [A/G] NR_002753,NM_006085 RNU5F-1,BPNT1 EXON Silent,Missense_A239V exm150097 1 220236134 [T/C] NR_002753,NM_006085 RNU5F-1,BPNT1 EXON Silent,Missense_D213N exm150100 1 220240666 [T/G] NR_002753,NM_006085 RNU5F-1,BPNT1 EXON Silent,Missense_N151T exm150139 1 220273920 [T/C] NR_002753,NM_018060 RNU5F-1,IARS2 EXON Silent,Missense_I160T exm2232510 1 220275751 [T/C] NR_002753,NM_018060 RNU5F-1,IARS2 EXON Silent,Missense_S249F exm150152 1 220275754 [C/G] NR_002753,NM_018060 RNU5F-1,IARS2 EXON Silent,Missense_R250T exm150162 1 220276789 [A/G] NR_002753,NM_018060 RNU5F-1,IARS2 EXON Silent,Synonymous_K317K exm150163 1 220276797 [T/C] NR_002753,NM_018060 RNU5F-1,IARS2 EXON Silent,Missense_V320A exm150165 1 220276854 [T/C] NR_002753,NM_018060 RNU5F-1,IARS2 EXON Silent,Missense_S339F exm150168 1 220276895 [A/T] NR_002753,NM_018060 RNU5F-1,IARS2 EXON Silent,Missense_T353S exm150188 1 220287740 [A/G] NR_002753,NM_018060 RNU5F-1,IARS2 EXON Silent,Missense_I522V exm150206 1 220298664 [A/G] NM_018060 IARS2 EXON Missense_K576E exm1762579 1 220300128 [G/C] NM_018060 IARS2 EXON Missense_Q594E exm150213 1 220307788 [T/C] NM_018060 IARS2 EXON Missense_L628F exm150217 1 220307849 [A/G] NM_018060 IARS2 EXON Missense_Y648C exm150223 1 220311332 [A/G] NM_018060 IARS2 EXON Missense_E708K exm1762591 1 220311338 [A/G] NM_018060 IARS2 EXON Missense_A710T exm150228 1 220311381 [A/G] NM_018060 IARS2 EXON Missense_S724N exm150233 1 220313529 [C/G] NM_018060 IARS2 EXON Missense_T771S exm150238 1 220313577 [A/G] NM_018060 IARS2 EXON Missense_R787Q exm150242 1 220316291 [T/A] NM_018060 IARS2 EXON Nonsense_K856X exm150248 1 220318939 [A/G] NM_018060 IARS2 EXON Missense_R947Q exm150257 1 220320957 [G/C] NM_018060 IARS2 EXON Missense_E1007Q exm150261 1 220324619 [T/C] NM_012414 RAB3GAP2 EXON Missense_E1386K exm150263 1 220324715 [T/C] NM_012414 RAB3GAP2 EXON Missense_I1354V exm150266 1 220324983 [T/G] NM_012414 RAB3GAP2 EXON Missense_L1331I exm150277 1 220326552 [T/C] NM_012414 RAB3GAP2 EXON Missense_Y1281C exm150283 1 220327339 [A/C] NM_012414 RAB3GAP2 EXON Missense_D1206Y exm150302 1 220331205 [G/C] NM_012414 RAB3GAP2 EXON Missense_S1092T exm1762630 1 220338086 [T/C] NM_012414 RAB3GAP2 EXON Missense_H1048R exm150307 1 220338117 [T/C] NM_012414 RAB3GAP2 EXON Missense_I1038V exm150321 1 220344453 [T/C] NM_012414 RAB3GAP2 EXON Missense_T863A exm150330 1 220355619 [A/G] NM_012414 RAB3GAP2 EXON Missense_L764F exm150334 1 220356096 [T/C] NM_012414 RAB3GAP2 EXON Missense_I726V exm150335 1 220356104 [T/A] NM_012414 RAB3GAP2 EXON Missense_V723E exm150339 1 220356245 [T/C] NM_012414 RAB3GAP2 EXON Missense_E676G exm150342 1 220359007 [A/G] NM_012414 RAB3GAP2 EXON Missense_T619I exm150355 1 220363770 [A/G] NM_012414 RAB3GAP2 EXON Missense_P527L exm150367 1 220366594 [A/G] NM_012414 RAB3GAP2 EXON Missense_R420C exm150370 1 220368424 [T/C] NM_012414 RAB3GAP2 EXON Missense_V376I exm150397 1 220379266 [T/C] NM_012414 RAB3GAP2 EXON Missense_R232Q exm150399 1 220379347 [T/C] NM_012414 RAB3GAP2 EXON Missense_N205S exm1762674 1 220383822 [C/G] NM_012414 RAB3GAP2 EXON Missense_L174V exm150412 1 220406148 [T/G] NM_012414 RAB3GAP2 EXON Missense_Q58P exm1762691 1 220445634 [T/C] NM_012414 RAB3GAP2 EXON Missense_A16T exm150414 1 220445641 [A/G] NM_012414 RAB3GAP2 EXON Synonymous_D13D exm2250764 1 220445641 [A/G] NM_012414 RAB3GAP2 EXON Synonymous_D13D exm2264954 1 220565331 [A/G] exm150421 1 220752795 [A/G] NM_018650 MARK1 EXON Missense_T51A exm150450 1 220808767 [A/G] NM_018650 MARK1 EXON Missense_R391Q exm150458 1 220809263 [A/C] NM_018650 MARK1 EXON Missense_K455N exm150459 1 220809268 [T/C] NM_018650 MARK1 EXON Missense_V457A exm1762806 1 220809273 [C/G] NM_018650 MARK1 EXON Missense_R459G exm1762808 1 220823972 [T/A] NM_018650 MARK1 EXON Missense_Y494F exm150462 1 220824019 [A/C] NM_018650 MARK1 EXON Missense_T510P exm150466 1 220825344 [A/G] NM_018650 MARK1 EXON Missense_V530M exm150468 1 220825377 [C/G] NM_018650 MARK1 EXON Missense_A541P exm150483 1 220826649 [T/C] NM_018650 MARK1 EXON Missense_T648M exm2260009 1 220828454 [T/C] NM_018650 MARK1 Silent exm150503 1 220869990 [A/G] NM_024709 C1orf115 EXON Missense_V116M exm150505 1 220869999 [A/G] NM_024709 C1orf115 EXON Missense_G119S exm150509 1 220870033 [T/C] NM_024709 C1orf115 EXON Missense_P130L exm150511 1 220870039 [T/C] NM_024709 C1orf115 EXON Missense_A132V exm-rs337161 1 220914920 [T/G] exm150534 1 220928344 [T/C] NM_017898 MARC2 EXON Missense_R110C exm150537 1 220928438 [T/C] NM_017898 MARC2 EXON Missense_S141F exm-rs1494373 1 220929356 [T/C] NM_017898 MARC2 Silent exm150548 1 220936333 [A/T] NM_017898 MARC2 EXON Missense_M231L exm150550 1 220936372 [A/G] NM_017898 MARC2 EXON Missense_G244S exm150556 1 220953523 [A/C] NM_017898 MARC2 EXON Missense_T276P exm150557 1 220953524 [T/C] NM_017898 MARC2 EXON Missense_T276M exm150565 1 220955235 [A/C] NM_017898 MARC2 EXON Missense_M334L exm150582 1 220964843 [C/G] NM_022746 MARC1 EXON Missense_V96L exm1762898 1 220964877 [A/G] NM_022746 MARC1 EXON Missense_R107H exm150593 1 220969992 [A/G] NM_022746 MARC1 EXON Missense_G153S exm150595 1 220970028 [A/G] NM_022746 MARC1 EXON Missense_T165A exm150596 1 220970031 [A/G] NM_022746 MARC1 EXON Missense_A166T exm150597 1 220970070 [T/C] NM_022746 MARC1 EXON Missense_R179C exm150598 1 220970084 [C/G] NM_022746 MARC1 EXON Missense_F183L exm150599 1 220970095 [A/T] NM_022746 MARC1 EXON Missense_M187K exm150600 1 220970101 [T/C] NM_022746 MARC1 EXON Missense_P189L exm150601 1 220970133 [T/C] NM_022746 MARC1 EXON Nonsense_R200X exm150608 1 220971339 [A/T] NM_022746 MARC1 EXON Missense_C246S exm150609 1 220971342 [A/G] NM_022746 MARC1 EXON Missense_D247N exm150616 1 220978444 [A/G] NM_022746 MARC1 EXON Missense_M268I exm150617 1 220978456 [A/G] NM_022746 MARC1 Silent exm150621 1 220978568 [T/C] NM_022746 MARC1 EXON Missense_P280L exm150623 1 220978598 [T/C] NM_022746 MARC1 EXON Missense_P290L exm150631 1 220986660 [A/G] NM_022746 MARC1 EXON Missense_R305Q exm-rs12073837 1 221010205 [T/C] exm150643 1 221053574 [A/C] NM_021958 HLX EXON Missense_Q125H exm150652 1 221053698 [T/C] NM_021958 HLX EXON Missense_P167S exm150661 1 221054647 [T/C] NM_021958 HLX EXON Missense_A235V exm150672 1 221055533 [A/C] NM_021958 HLX EXON Missense_T267N exm150679 1 221057646 [T/C] NM_021958 HLX EXON Missense_P356L exm150681 1 221057667 [T/A] NM_021958 HLX EXON Missense_D363V exm150687 1 221057770 [T/A] NM_021958 HLX EXON Missense_S397R exm2264955 1 221147712 [A/G] exm-rs2378454 1 221396325 [A/G] exm2268834 1 221511715 [T/C] exm-rs12733856 1 221551539 [A/C] exm-rs12032381 1 221617076 [A/C] exm150731 1 221879569 [T/C] NM_007207,NM_144728,NM_144729 DUSP10,DUSP10,DUSP10 EXON Missense_V351I,Missense_V9I,Missense_V9I exm150738 1 221879742 [A/C] NM_007207,NM_144728,NM_144729 DUSP10,DUSP10,DUSP10 EXON Missense_C293F,Silent,Silent exm2260011 1 221898783 [T/C] NM_007207,NM_144728,NM_144729 DUSP10,DUSP10,DUSP10 Silent,Silent,Silent exm150759 1 221912675 [A/G] NM_007207,NM_144729 DUSP10,DUSP10 EXON Missense_S138P,Silent exm150776 1 221912939 [T/C] NM_007207,NM_144729 DUSP10,DUSP10 EXON Missense_V50I,Silent exm150778 1 221912959 [T/G] NM_007207,NM_144729 DUSP10,DUSP10 EXON Missense_P43H,Silent exm150779 1 221912999 [T/G] NM_007207,NM_144729 DUSP10,DUSP10 EXON Missense_S30R,Silent exm2268835 1 222093006 [T/C] exm-rs6687758 1 222164948 [A/G] exm-rs873549 1 222271767 [T/C] exm-rs17163128 1 222619902 [T/C] exm2263851 1 222640209 [A/C] exm150785 1 222696004 [A/C] NM_024746 HHIPL2 EXON Missense_S705I exm150788 1 222696034 [T/C] NM_024746 HHIPL2 EXON Missense_R695H exm150789 1 222696035 [A/G] NM_024746 HHIPL2 EXON Missense_R695C exm150797 1 222696171 [T/A] NM_024746 HHIPL2 EXON Missense_S649R exm1763700 1 222700317 [C/G] NM_024746 HHIPL2 EXON Missense_P600R exm150812 1 222700374 [A/G] NM_024746 HHIPL2 EXON Missense_A581V exm150818 1 222705379 [A/G] NM_024746 HHIPL2 EXON Missense_T551M exm150819 1 222705418 [T/G] NM_024746 HHIPL2 EXON Missense_K538T exm150829 1 222712108 [T/G] NM_024746 HHIPL2 EXON Missense_L487M exm150831 1 222713360 [A/G] NM_024746 HHIPL2 EXON Missense_A481V exm150832 1 222713361 [A/C] NM_024746 HHIPL2 EXON Missense_A481S exm150842 1 222713519 [T/C] NM_024746 HHIPL2 EXON Missense_R428Q exm150844 1 222713534 [T/C] NM_024746 HHIPL2 EXON Missense_R423H exm150849 1 222713621 [T/C] NM_024746 HHIPL2 EXON Missense_R394Q exm150851 1 222713631 [C/G] NM_024746 HHIPL2 EXON Missense_H391D exm150854 1 222715384 [T/G] NM_024746 HHIPL2 EXON Missense_P363H exm2277028 1 222716993 [A/C] NM_024746 HHIPL2 EXON Missense_R287L exm150861 1 222717027 [T/C] NM_024746 HHIPL2 EXON Missense_G276R exm150864 1 222717066 [A/C] NM_024746 HHIPL2 EXON Missense_L263V exm150870 1 222717132 [T/C] NM_024746 HHIPL2 EXON Missense_V241M exm150875 1 222717264 [T/C] NM_024746 HHIPL2 EXON Missense_V197M exm1763723 1 222717354 [T/G] NM_024746 HHIPL2 EXON Missense_R167S exm150883 1 222721160 [T/C] NM_024746 HHIPL2 EXON Missense_R76H exm150897 1 222732027 [T/C] NM_001201536,NM_139352,NM_005681 TAF1A,TAF1A,TAF1A EXON Missense_Y443C,Missense_Y329C,Missense_Y443C exm150898 1 222732051 [T/C] NM_001201536,NM_139352,NM_005681 TAF1A,TAF1A,TAF1A EXON Missense_R435Q,Missense_R321Q,Missense_R435Q exm150902 1 222734774 [T/C] NM_001201536,NM_139352,NM_005681 TAF1A,TAF1A,TAF1A EXON Missense_S391N,Missense_S277N,Missense_S391N exm150920 1 222742851 [T/C] NM_001201536,NM_139352,NM_005681 TAF1A,TAF1A,TAF1A Silent,Silent,Silent exm150921 1 222742866 [A/T] NM_001201536,NM_139352,NM_005681 TAF1A,TAF1A,TAF1A EXON Missense_I294L,Missense_I180L,Missense_I294L exm150924 1 222742965 [T/G] NM_001201536,NM_139352,NM_005681 TAF1A,TAF1A,TAF1A EXON Missense_T261P,Missense_T147P,Missense_T261P exm150926 1 222742989 [A/G] NM_001201536,NM_139352,NM_005681 TAF1A,TAF1A,TAF1A EXON Nonsense_R253X,Nonsense_R139X,Nonsense_R253X exm150933 1 222750825 [T/A] NM_001201536,NM_139352,NM_005681 TAF1A,TAF1A,TAF1A EXON Missense_Y189F,Missense_Y75F,Missense_Y189F exm150935 1 222750877 [A/G] NM_001201536,NM_139352,NM_005681 TAF1A,TAF1A,TAF1A EXON Missense_R172W,Missense_R58W,Missense_R172W exm150940 1 222753162 [A/G] NM_001201536,NM_139352,NM_005681 TAF1A,TAF1A,TAF1A EXON Missense_M115T,Missense_M1T,Missense_M115T exm150942 1 222753212 [A/C] NM_001201536,NM_139352,NM_005681 TAF1A,TAF1A,TAF1A EXON Missense_I98M,Silent,Missense_I98M exm150948 1 222757615 [T/C] NM_001201536,NM_139352,NM_005681 TAF1A,TAF1A,TAF1A EXON Missense_D49G,Silent,Missense_D49G exm-rs17464857 1 222762709 [T/G] NM_001201536,NM_139352,NM_005681 TAF1A,TAF1A,TAF1A Silent,Silent,Silent exm150964 1 222800921 [T/C] NM_198551 MIA3 EXON Missense_T120M exm150967 1 222800987 [A/G] NM_198551 MIA3 EXON Missense_G142E exm2232547 1 222801103 [C/G] NM_198551 MIA3 EXON Missense_P181A exm150980 1 222801448 [A/G] NM_198551 MIA3 EXON Missense_V296I exm150985 1 222801601 [A/G] NM_198551 MIA3 EXON Missense_V347I exm150988 1 222801661 [A/T] NM_198551 MIA3 EXON Missense_T367S exm150989 1 222801721 [A/G] NM_198551 MIA3 EXON Missense_I387V exm150995 1 222801868 [A/G] NM_198551 MIA3 EXON Missense_D436N exm151000 1 222802006 [A/G] NM_198551 MIA3 EXON Missense_K482E exm151003 1 222802169 [T/C] NM_198551 MIA3 EXON Missense_S536L exm151006 1 222802243 [A/C] NM_198551 MIA3 EXON Missense_K561Q exm151011 1 222802327 [T/A] NM_198551 MIA3 EXON Missense_N589Y exm151013 1 222802376 [A/G] NM_198551 MIA3 EXON Missense_K605R exm151016 1 222802423 [A/G] NM_198551 MIA3 EXON Missense_E621K exm151021 1 222802591 [T/C] NM_198551 MIA3 EXON Missense_L677F exm151025 1 222802652 [T/C] NM_198551 MIA3 EXON Missense_M697T exm151026 1 222802669 [A/G] NM_198551 MIA3 EXON Missense_G703R exm151027 1 222802735 [T/C] NM_198551 MIA3 EXON Missense_Y725H exm151028 1 222802754 [T/C] NM_198551 MIA3 EXON Missense_L731P exm151033 1 222802822 [T/A] NM_198551 MIA3 EXON Missense_F754I exm151039 1 222803062 [A/G] NM_198551 MIA3 EXON Missense_I834V exm151041 1 222803114 [A/G] NM_198551 MIA3 EXON Missense_D851G exm151046 1 222803199 [A/C] NM_198551 MIA3 EXON Missense_D879E exm151047 1 222803204 [A/G] NM_198551 MIA3 EXON Missense_E881G exm1763781 1 222803248 [A/G] NM_198551 MIA3 EXON Missense_A896T exm151048 1 222803249 [T/C] NM_198551 MIA3 EXON Missense_A896V exm151053 1 222803332 [A/C] NM_198551 MIA3 EXON Missense_L924I exm151057 1 222803457 [C/G] NM_198551 MIA3 EXON Missense_E965D exm151058 1 222803465 [G/C] NM_198551 MIA3 EXON Missense_P968R exm151078 1 222818925 [T/G] NM_198551 MIA3 EXON Missense_Q1169H exm-rs17465637 1 222823529 [A/C] NM_198551 MIA3 Silent exm151083 1 222823669 [A/G] NM_198551 MIA3 EXON Missense_I1223V exm151118 1 222832098 [A/G] NM_198551 MIA3 EXON Missense_R1548G exm151119 1 222832102 [A/C] NM_198551 MIA3 EXON Missense_E1549A exm151125 1 222832967 [A/G] NM_198551 MIA3 EXON Missense_A1592T exm151126 1 222832992 [A/C] NM_198551 MIA3 EXON Missense_E1600A exm151127 1 222833104 [T/C] NM_198551 MIA3 EXON Missense_I1612T exm151129 1 222833270 [T/A] NM_198551 MIA3 EXON Missense_M1633L exm151142 1 222835658 [T/C] NM_198551 MIA3 EXON Missense_V1749A exm151143 1 222835663 [G/C] NM_198551 MIA3 EXON Missense_D1751H exm151149 1 222837470 [A/G] NM_198551 MIA3 EXON Missense_R1798Q exm151152 1 222838663 [A/G] NM_198551 MIA3 EXON Missense_R1809H exm151163 1 222838833 [A/G] NM_198551 MIA3 EXON Missense_G1866S exm151168 1 222838950 [T/C] NM_198551 MIA3 EXON Nonsense_Q1905X exm151202 1 222892325 [A/C] NM_144695 BROX EXON Missense_P54T exm151204 1 222892344 [T/C] NM_144695 BROX EXON Missense_A60V exm151207 1 222892660 [A/C] NM_144695 BROX EXON Missense_Q88H exm151214 1 222898838 [A/C] NM_144695 BROX EXON Missense_D174A exm151250 1 222919895 [T/G] NM_207468 FAM177B EXON Missense_I3S exm2250786 1 222919965 [T/C] NM_207468 FAM177B EXON Synonymous_I26I exm1763869 1 222919998 [A/T] NM_207468 FAM177B EXON Nonsense_Y37X exm151257 1 222920029 [G/C] NM_207468 FAM177B EXON Missense_E48Q exm151261 1 222920384 [T/C] NM_207468 FAM177B EXON Nonsense_R68X exm151263 1 222920393 [G/C] NM_207468 FAM177B EXON Missense_A71P exm151264 1 222920400 [A/G] NM_207468 FAM177B EXON Missense_R73Q exm151275 1 222923351 [A/G] NM_207468 FAM177B EXON Missense_Q143R exm1763903 1 223116452 [G/C] NM_032890 DISP1 EXON Missense_S96T exm151298 1 223116472 [A/G] NM_032890 DISP1 EXON Missense_E103K exm151299 1 223116474 [T/G] NM_032890 DISP1 EXON Missense_E103D exm151312 1 223163993 [T/C] NM_032890 DISP1 EXON Missense_P189L exm151322 1 223164937 [A/G] NM_032890 DISP1 EXON Missense_K247E exm151343 1 223176061 [T/C] NM_032890 DISP1 EXON Missense_T441M exm151349 1 223176145 [T/C] NM_032890 DISP1 EXON Missense_L469S exm151389 1 223177116 [A/G] NM_032890 DISP1 EXON Missense_V793M exm151401 1 223177444 [A/G] NM_032890 DISP1 EXON Missense_G902E exm151406 1 223177522 [A/G] NM_032890 DISP1 EXON Missense_Q928R exm151420 1 223177948 [A/G] NM_032890 DISP1 EXON Missense_G1070D exm151422 1 223177972 [A/G] NM_032890 DISP1 EXON Missense_R1078H exm151423 1 223177974 [A/G] NM_032890 DISP1 EXON Missense_V1079M exm151428 1 223178025 [A/G] NM_032890 DISP1 EXON Missense_M1096V exm151429 1 223178026 [T/C] NM_032890 DISP1 EXON Missense_M1096T exm151432 1 223178134 [A/G] NM_032890 DISP1 EXON Missense_R1132Q exm151438 1 223178193 [A/G] NM_032890 DISP1 EXON Missense_S1152G exm151439 1 223178226 [A/G] NM_032890 DISP1 EXON Missense_S1163G exm151440 1 223178364 [A/G] NM_032890 DISP1 EXON Missense_T1209A exm151441 1 223178455 [T/C] NM_032890 DISP1 EXON Missense_L1239P exm2232563 1 223178474 [A/T] NM_032890 DISP1 EXON Missense_S1245R exm151443 1 223178478 [A/G] NM_032890 DISP1 EXON Missense_A1247T exm151445 1 223178520 [A/G] NM_032890 DISP1 EXON Missense_V1261M exm151447 1 223178581 [A/T] NM_032890 DISP1 EXON Missense_N1281I exm151448 1 223178670 [A/G] NM_032890 DISP1 EXON Missense_G1311S exm151449 1 223178673 [A/G] NM_032890 DISP1 EXON Missense_V1312M exm151452 1 223178706 [A/G] NM_032890 DISP1 EXON Missense_E1323K exm151454 1 223178728 [T/C] NM_032890 DISP1 EXON Missense_T1330M exm1763965 1 223178988 [T/C] NM_032890 DISP1 EXON Missense_C1417R exm2264956 1 223194033 [A/G] exm2232565 1 223283807 [A/G] NM_003268 TLR5 EXON Missense_T856I exm151474 1 223283837 [T/C] NM_003268 TLR5 EXON Missense_D846G exm151478 1 223283910 [A/G] NM_003268 TLR5 EXON Missense_F822L exm151482 1 223284038 [T/C] NM_003268 TLR5 EXON Missense_C779Y exm151483 1 223284047 [T/C] NM_003268 TLR5 EXON Missense_Q776R exm151485 1 223284069 [A/G] NM_003268 TLR5 EXON Missense_L769F exm151487 1 223284120 [T/C] NM_003268 TLR5 EXON Missense_R752G exm151489 1 223284156 [A/G] NM_003268 TLR5 EXON Missense_R740C exm151493 1 223284214 [T/A] NM_003268 TLR5 EXON Missense_S720R exm151500 1 223284528 [A/G] NM_003268 TLR5 EXON Missense_F616L exm151505 1 223284599 [T/C] NM_003268 TLR5 EXON Missense_N592S exm151509 1 223284713 [T/C] NM_003268 TLR5 EXON Missense_D554G exm151510 1 223284723 [G/C] NM_003268 TLR5 EXON Missense_E551Q exm151512 1 223284731 [A/G] NM_003268 TLR5 EXON Missense_A548V exm151516 1 223284810 [A/G] NM_003268 TLR5 EXON Missense_F522L exm151517 1 223284915 [T/G] NM_003268 TLR5 EXON Missense_L487I exm151518 1 223284965 [A/G] NM_003268 TLR5 EXON Missense_S470L exm151525 1 223285200 [A/G] NM_003268 TLR5 EXON Nonsense_R392X exm1763982 1 223285215 [A/G] NM_003268 TLR5 EXON Nonsense_Q387X exm151529 1 223285305 [A/T] NM_003268 TLR5 EXON Missense_Y357N exm151531 1 223285313 [A/G] NM_003268 TLR5 EXON Missense_S354L exm151537 1 223285435 [A/C] NM_003268 TLR5 EXON Missense_D313E exm151546 1 223285601 [T/A] NM_003268 TLR5 EXON Nonsense_L258X exm151555 1 223285833 [T/G] NM_003268 TLR5 EXON Missense_Q181K exm1763987 1 223285901 [T/C] NM_003268 TLR5 EXON Missense_R158H exm151559 1 223285910 [T/G] NM_003268 TLR5 EXON Missense_N155T exm151561 1 223285946 [T/G] NM_003268 TLR5 EXON Missense_N143T exm151563 1 223286040 [G/C] NM_003268 TLR5 EXON Missense_P112A exm151565 1 223286129 [A/G] NM_003268 TLR5 EXON Missense_T82I exm151566 1 223286138 [T/C] NM_003268 TLR5 EXON Missense_S79N exm151572 1 223286273 [T/C] NM_003268 TLR5 EXON Missense_R34H exm151584 1 223396624 [C/G] NM_017982 SUSD4 EXON Missense_A471P exm151586 1 223396645 [A/C] NM_017982 SUSD4 EXON Missense_A464S exm151588 1 223396738 [T/C] NM_017982 SUSD4 EXON Missense_V433I exm151591 1 223396798 [T/C] NM_017982 SUSD4 EXON Missense_A413T exm151597 1 223396858 [T/C] NM_017982 SUSD4 EXON Missense_G393R exm151623 1 223437989 [T/C] NM_017982,NM_001037175 SUSD4,SUSD4 EXON Missense_R236Q,Missense_R236Q exm1764033 1 223438018 [T/G] NM_017982,NM_001037175 SUSD4,SUSD4 EXON Missense_Q226H,Missense_Q226H exm151629 1 223438070 [T/C] NM_017982,NM_001037175 SUSD4,SUSD4 EXON Missense_R209H,Missense_R209H exm2265084 1 223438771 [A/G] NM_017982,NM_001037175 SUSD4,SUSD4 Silent,Silent exm151634 1 223441882 [T/C] NM_017982,NM_001037175 SUSD4,SUSD4 EXON Missense_R166H,Missense_R166H exm151644 1 223442011 [T/C] NM_017982,NM_001037175 SUSD4,SUSD4 EXON Missense_R123H,Missense_R123H exm2268836 1 223467316 [T/G] NM_017982,NM_001037175 SUSD4,SUSD4 Silent,Silent exm151661 1 223566876 [A/G] NM_152610 C1orf65 EXON Missense_R20Q exm1764065 1 223567028 [T/C] NM_152610 C1orf65 EXON Missense_R71C exm151687 1 223567401 [T/C] NM_152610 C1orf65 EXON Missense_V195A exm2250793 1 223567441 [T/C] NM_152610 C1orf65 EXON Synonymous_C208C exm1764069 1 223567613 [T/C] NM_152610 C1orf65 EXON Missense_R266C exm151706 1 223567808 [T/C] NM_152610 C1orf65 EXON Missense_R331W exm151723 1 223568054 [A/G] NM_152610 C1orf65 EXON Missense_V413M exm151750 1 223568559 [G/C] NM_152610 C1orf65 EXON Missense_P581R exm151771 1 223716508 [T/C] NM_001143962 CAPN8 EXON Missense_R575Q exm151778 1 223718170 [T/C] NM_001143962 CAPN8 EXON Missense_R517Q exm151793 1 223724343 [T/A] NM_001143962 CAPN8 EXON Missense_F451L exm151794 1 223803680 [T/C] NM_001143962 CAPN8 EXON Missense_V435I exm151802 1 223807079 [T/C] NM_001143962 CAPN8 EXON Missense_E351K exm151810 1 223813586 [T/G] NM_001143962 CAPN8 EXON Missense_S245Y exm151819 1 223816383 [A/G] NM_001143962 CAPN8 EXON Missense_A136V exm151820 1 223816423 [A/G] NM_001143962 CAPN8 EXON Missense_R123W exm151838 1 223900408 [C/G] NM_001146068,NM_001748 CAPN2,CAPN2 EXON Silent,Missense_D22E exm151840 1 223900443 [A/C] NM_001146068,NM_001748 CAPN2,CAPN2 EXON Silent,Missense_A34E exm151848 1 223900544 [A/G] NM_001146068,NM_001748 CAPN2,CAPN2 EXON Silent,Missense_S68G exm151851 1 223900562 [A/G] NM_001146068,NM_001748 CAPN2,CAPN2 EXON Silent,Missense_E74K exm151853 1 223905492 [T/C] NM_001146068,NM_001748 CAPN2,CAPN2 EXON Missense_I11T,Missense_I89T exm151856 1 223905532 [A/G] NM_001146068,NM_001748 CAPN2,CAPN2 EXON Synonymous_L24L,Synonymous_L102L exm151863 1 223933020 [A/G] NM_001146068,NM_001748 CAPN2,CAPN2 EXON Missense_G69S,Missense_G147S exm151876 1 223934794 [A/G] NM_001146068,NM_001748 CAPN2,CAPN2 EXON Missense_K141R,Missense_K219R exm2263871 1 223938565 [A/C] NM_001146068,NM_001748 CAPN2,CAPN2 Silent,Silent exm151882 1 223938625 [T/C] NM_001146068,NM_001748 CAPN2,CAPN2 EXON Missense_R205C,Missense_R283C exm151884 1 223938665 [A/G] NM_001146068,NM_001748 CAPN2,CAPN2 EXON Missense_R218Q,Missense_R296Q exm151893 1 223940532 [T/C] NM_001146068,NM_001748 CAPN2,CAPN2 EXON Missense_R259C,Missense_R337C exm151902 1 223940635 [T/C] NM_001146068,NM_001748 CAPN2,CAPN2 EXON Missense_A293V,Missense_A371V exm151904 1 223940657 [A/G] NM_001146068,NM_001748 CAPN2,CAPN2 EXON Synonymous_P300P,Synonymous_P378P exm151925 1 223947060 [A/G] NM_001146068,NM_001748 CAPN2,CAPN2 EXON Missense_R391Q,Missense_R469Q exm151926 1 223947081 [A/G] NM_001146068,NM_001748 CAPN2,CAPN2 EXON Missense_K398R,Missense_K476R exm151936 1 223949314 [C/G] NM_001146068,NM_001748 CAPN2,CAPN2 EXON Missense_E443Q,Missense_E521Q exm151940 1 223949900 [A/G] NM_001146068,NM_001748 CAPN2,CAPN2 EXON Missense_E449K,Missense_E527K exm2232579 1 223949936 [C/G] NM_001146068,NM_001748 CAPN2,CAPN2 EXON Missense_A461P,Missense_A539P exm2275328 1 223951879 [T/C] NM_001146068,NM_001748 CAPN2,CAPN2 EXON Nonsense_Q476X,Nonsense_Q554X exm151950 1 223954102 [T/A] NM_001146068,NM_001748 CAPN2,CAPN2 EXON Missense_E497V,Missense_E575V exm151969 1 223959543 [A/G] NM_001146068,NM_001748 CAPN2,CAPN2 EXON Missense_I568V,Missense_I646V exm151975 1 223959622 [T/C] NM_001146068,NM_001748 CAPN2,CAPN2 EXON Missense_L594P,Missense_L672P exm151977 1 223959891 [A/C] NM_001146068,NM_001748 CAPN2,CAPN2 EXON Missense_K599Q,Missense_K677Q exm1764190 1 223959906 [A/G] NM_001146068,NM_001748 CAPN2,CAPN2 EXON Missense_E604K,Missense_E682K exm151989 1 223971861 [A/G] NM_005426,NM_001031685 TP53BP2,TP53BP2 EXON Missense_R978C,Missense_R1107C exm152003 1 223980207 [G/C] NM_005426,NM_001031685 TP53BP2,TP53BP2 EXON Synonymous_L831L,Synonymous_L960L exm2250796 1 223980207 [G/C] NM_005426,NM_001031685 TP53BP2,TP53BP2 EXON Synonymous_L831L,Synonymous_L960L exm152005 1 223981097 [A/G] NM_005426,NM_001031685 TP53BP2,TP53BP2 EXON Missense_H795Y,Missense_H924Y exm1764213 1 223983687 [T/C] NM_005426,NM_001031685 TP53BP2,TP53BP2 EXON Missense_N723D,Missense_N852D exm152015 1 223983695 [T/A] NM_005426,NM_001031685 TP53BP2,TP53BP2 EXON Missense_N720I,Missense_N849I exm152024 1 223984248 [A/G] NM_005426,NM_001031685 TP53BP2,TP53BP2 EXON Missense_H536Y,Missense_H665Y exm152038 1 223986186 [A/G] NM_005426,NM_001031685 TP53BP2,TP53BP2 EXON Missense_L431P,Missense_L560P exm152050 1 223987605 [A/G] NM_005426,NM_001031685 TP53BP2,TP53BP2 EXON Missense_A365V,Missense_A494V exm152054 1 223987681 [T/C] NM_005426,NM_001031685 TP53BP2,TP53BP2 EXON Missense_V340I,Missense_V469I exm152086 1 223990510 [T/C] NM_005426,NM_001031685 TP53BP2,TP53BP2 EXON Missense_M178V,Missense_M307V exm152097 1 223991119 [T/G] NM_005426,NM_001031685 TP53BP2,TP53BP2 EXON Missense_Q100K,Missense_Q229K exm152100 1 223991930 [T/C] NM_005426,NM_001031685 TP53BP2,TP53BP2 EXON Missense_V70M,Missense_V199M exm152101 1 223991959 [A/G] NM_005426,NM_001031685 TP53BP2,TP53BP2 EXON Missense_A60V,Missense_A189V exm152117 1 224001984 [A/G] NM_005426,NM_001031685 TP53BP2,TP53BP2 EXON Silent,Missense_R83C exm152119 1 224002036 [T/A] NM_005426,NM_001031685 TP53BP2,TP53BP2 EXON Silent,Missense_N65K exm2250798 1 224002042 [T/C] NM_005426,NM_001031685 TP53BP2,TP53BP2 EXON Silent,Synonymous_A63A exm2250799 1 224009058 [A/G] NM_005426,NM_001031685 TP53BP2,TP53BP2 EXON Silent,Synonymous_T13T exm2268837 1 224048645 [T/C] exm1764276 1 224301853 [A/C] NR_049764,NM_015176,NM_001136115 FBXO28,FBXO28,FBXO28 EXON Silent,Synonymous_R8R,Synonymous_R8R exm152143 1 224340881 [A/G] NR_049764,NM_015176,NM_001136115 FBXO28,FBXO28,FBXO28 EXON Silent,Missense_N185S,Silent exm152149 1 224345067 [T/C] NR_049764,NM_015176,NM_001136115 FBXO28,FBXO28,FBXO28 EXON Silent,Synonymous_S242S,Missense_L177P exm152156 1 224345351 [A/G] NR_049764,NM_015176,NM_001136115 FBXO28,FBXO28,FBXO28 EXON Silent,Missense_G337E,Silent exm2264957 1 224360892 [A/G] exm152161 1 224371065 [A/C] NM_003676 DEGS1 EXON Missense_D9E exm152165 1 224377389 [A/G] NM_003676 DEGS1 EXON Missense_D65N exm1764286 1 224377720 [T/A] NM_003676 DEGS1 EXON Missense_L175Q exm152189 1 224377959 [T/A] NM_003676 DEGS1 EXON Missense_N255Y exm152190 1 224377996 [A/G] NM_003676 DEGS1 EXON Missense_N267S exm152192 1 224380094 [C/G] NM_003676 DEGS1 EXON Missense_V296L exm152200 1 224415342 [A/G] NM_206840,NM_002533,NM_001243147,NM_001243146 NVL,NVL,NVL,NVL EXON Missense_S747P,Missense_S853P,Missense_S762P,Missense_S664P exm152202 1 224418939 [T/C] NM_206840,NM_002533,NM_001243147,NM_001243146 NVL,NVL,NVL,NVL EXON Missense_I733V,Missense_I839V,Missense_I748V,Missense_I650V exm152211 1 224424239 [T/C] NM_206840,NM_002533,NM_001243147,NM_001243146 NVL,NVL,NVL,NVL EXON Missense_I673V,Missense_I779V,Missense_I688V,Missense_I590V exm152214 1 224437967 [T/C] NM_206840,NM_002533,NM_001243147,NM_001243146 NVL,NVL,NVL,NVL EXON Missense_V640M,Missense_V746M,Missense_V655M,Missense_V557M exm152216 1 224438009 [A/G] NM_206840,NM_002533,NM_001243147,NM_001243146 NVL,NVL,NVL,NVL EXON Missense_P626S,Missense_P732S,Missense_P641S,Missense_P543S exm152221 1 224455754 [G/C] NM_206840,NM_002533,NM_001243147,NM_001243146 NVL,NVL,NVL,NVL EXON Missense_A616P,Missense_A722P,Missense_A631P,Missense_A533P exm152228 1 224463118 [A/G] NM_206840,NM_002533,NM_001243147,NM_001243146 NVL,NVL,NVL,NVL EXON Nonsense_R563X,Nonsense_R669X,Nonsense_R578X,Nonsense_R480X exm152231 1 224468829 [T/G] NM_206840,NM_002533,NM_001243147,NM_001243146 NVL,NVL,NVL,NVL EXON Missense_N547T,Missense_N653T,Missense_N562T,Missense_N464T exm152232 1 224468857 [T/G] NM_206840,NM_002533,NM_001243147,NM_001243146 NVL,NVL,NVL,NVL EXON Missense_I538L,Missense_I644L,Missense_I553L,Missense_I455L exm152237 1 224468878 [T/G] NM_206840,NM_002533,NM_001243147,NM_001243146 NVL,NVL,NVL,NVL EXON Missense_N531H,Missense_N637H,Missense_N546H,Missense_N448H exm152256 1 224477200 [T/C] NM_206840,NM_002533,NM_001243147,NM_001243146 NVL,NVL,NVL,NVL EXON Missense_T415A,Missense_T521A,Missense_T430A,Missense_T332A exm152266 1 224482084 [T/C] NM_206840,NM_002533,NM_001243147,NM_001243146 NVL,NVL,NVL,NVL EXON Missense_V298I,Missense_V404I,Missense_V313I,Missense_V215I exm1764325 1 224484278 [T/C] NM_206840,NM_002533,NM_001243147,NM_001243146 NVL,NVL,NVL,NVL EXON Missense_I263V,Missense_I369V,Missense_I278V,Missense_I180V exm152274 1 224488334 [C/G] NM_206840,NM_002533,NM_001243147,NM_001243146 NVL,NVL,NVL,NVL EXON Missense_A225G,Missense_A331G,Missense_A240G,Missense_A142G exm152276 1 224491438 [T/C] NM_206840,NM_002533,NM_001243147,NM_001243146 NVL,NVL,NVL,NVL EXON Missense_H210R,Missense_H316R,Missense_H225R,Missense_H100R exm152279 1 224491502 [T/C] NM_206840,NM_002533,NM_001243147,NM_001243146 NVL,NVL,NVL,NVL EXON Missense_V189I,Missense_V295I,Missense_V204I,Missense_V79I exm1764335 1 224492479 [T/C] NM_206840,NM_002533,NM_001243147,NM_001243146 NVL,NVL,NVL,NVL EXON Missense_V156M,Missense_V262M,Missense_V171M,Missense_V46M exm152285 1 224492744 [T/C] NM_206840,NM_002533,NM_001243147,NM_001243146 NVL,NVL,NVL,NVL EXON Missense_Q141R,Missense_Q247R,Missense_Q156R,Missense_Q31R exm152287 1 224492783 [A/T] NM_206840,NM_002533,NM_001243147,NM_001243146 NVL,NVL,NVL,NVL EXON Missense_D128V,Missense_D234V,Missense_D143V,Missense_D18V exm152289 1 224492829 [A/G] NM_206840,NM_002533,NM_001243147,NM_001243146 NVL,NVL,NVL,NVL EXON Missense_R113W,Missense_R219W,Missense_R128W,Missense_R3W exm152292 1 224495698 [T/C] NM_206840,NM_002533,NM_001243147,NM_001243146 NVL,NVL,NVL,NVL EXON Missense_I98V,Missense_I204V,Silent,Silent exm152293 1 224495707 [T/C] NM_206840,NM_002533,NM_001243147,NM_001243146 NVL,NVL,NVL,NVL EXON Missense_I95V,Missense_I201V,Silent,Silent exm152298 1 224495853 [T/C] NM_206840,NM_002533,NM_001243147,NM_001243146 NVL,NVL,NVL,NVL EXON Missense_R46Q,Missense_R152Q,Silent,Silent exm152299 1 224495905 [T/C] NM_206840,NM_002533,NM_001243147,NM_001243146 NVL,NVL,NVL,NVL EXON Missense_V29I,Missense_V135I,Silent,Silent exm152300 1 224495925 [T/C] NM_206840,NM_002533,NM_001243147,NM_001243146 NVL,NVL,NVL,NVL EXON Missense_R22Q,Missense_R128Q,Silent,Silent exm152314 1 224517810 [T/C] NM_206840,NM_002533,NM_001243147,NM_001243146 NVL,NVL,NVL,NVL EXON Silent,Missense_G7E,Missense_G7E,Silent exm-rs11579964 1 224538940 [T/C] exm1764358 1 224544634 [C/G] NM_014184 CNIH4 EXON Missense_A3G exm152319 1 224544642 [T/G] NM_014184 CNIH4 EXON Missense_F6V exm152327 1 224553602 [A/G] NM_014184 CNIH4 EXON Missense_G54S exm1764362 1 224553693 [A/G] NM_014184 CNIH4 EXON Missense_R84Q exm152335 1 224563498 [A/G] NM_014184 CNIH4 EXON Missense_M132V exm152336 1 224563504 [T/G] NM_014184 CNIH4 EXON Missense_L134V exm152343 1 224581604 [A/G] NM_025160,NM_001115113 WDR26,WDR26 EXON Missense_M629T,Missense_M613T exm2250804 1 224821550 [T/C] NM_152495 CNIH3 Silent exm152395 1 224868682 [C/G] NM_152495 CNIH3 EXON Missense_R35T exm152397 1 224868724 [A/G] NM_152495 CNIH3 EXON Missense_H49R exm152422 1 225140459 [T/G] NM_001145154,NM_001373,NM_144989 DNAH14,DNAH14,DNAH14 EXON Nonsense_E19X,Nonsense_E19X,Nonsense_E19X exm152427 1 225142710 [A/T] NM_001145154,NM_001373,NM_144989 DNAH14,DNAH14,DNAH14 EXON Missense_T43S,Missense_T43S,Missense_T43S exm152430 1 225147932 [A/G] NM_001145154,NM_001373,NM_144989 DNAH14,DNAH14,DNAH14 EXON Missense_R99G,Missense_R99G,Missense_R99G exm152433 1 225147993 [A/G] NM_001145154,NM_001373,NM_144989 DNAH14,DNAH14,DNAH14 EXON Missense_Y119C,Missense_Y119C,Missense_Y119C exm152436 1 225152222 [T/C] NM_001145154,NM_001373,NM_144989 DNAH14,DNAH14,DNAH14 EXON Nonsense_R137X,Nonsense_R137X,Nonsense_R137X exm152438 1 225152253 [T/C] NM_001145154,NM_001373,NM_144989 DNAH14,DNAH14,DNAH14 EXON Missense_P147L,Missense_P147L,Missense_P147L exm152440 1 225152273 [A/G] NM_001145154,NM_001373,NM_144989 DNAH14,DNAH14,DNAH14 EXON Missense_G154R,Missense_G154R,Missense_G154R exm152441 1 225152289 [T/C] NM_001145154,NM_001373,NM_144989 DNAH14,DNAH14,DNAH14 EXON Missense_A159V,Missense_A159V,Missense_A159V exm152442 1 225152298 [A/T] NM_001145154,NM_001373,NM_144989 DNAH14,DNAH14,DNAH14 EXON Missense_K162M,Missense_K162M,Missense_K162M exm152446 1 225155176 [A/G] NM_001145154,NM_001373,NM_144989 DNAH14,DNAH14,DNAH14 EXON Missense_R181Q,Missense_R181Q,Missense_R181Q exm152451 1 225155286 [A/G] NM_001145154,NM_001373,NM_144989 DNAH14,DNAH14,DNAH14 Silent,Silent,Silent exm152452 1 225155380 [A/G] NM_001145154,NM_001373,NM_144989 DNAH14,DNAH14,DNAH14 Silent,Silent,Silent exm2260020 1 225178198 [T/C] NM_001145154,NM_001373 DNAH14,DNAH14 Silent,Silent exm152462 1 225190571 [T/C] NM_001145154,NM_001373 DNAH14,DNAH14 EXON Missense_I306T,Missense_I306T exm152470 1 225211422 [T/C] NM_001145154,NM_001373 DNAH14,DNAH14 EXON Missense_F405L,Missense_F405L exm2232594 1 225226478 [A/C] NM_001373 DNAH14 EXON Missense_I481L exm2232595 1 225230786 [T/A] NM_001373 DNAH14 EXON Missense_I580F exm152474 1 225237950 [A/G] NM_001373 DNAH14 EXON Missense_I651V exm152486 1 225267066 [A/G] NM_001373 DNAH14 EXON Missense_H861R exm152491 1 225268106 [A/C] NM_001373 DNAH14 EXON Missense_A931D exm152493 1 225268294 [A/G] NM_001373 DNAH14 EXON Missense_G994S exm152494 1 225268343 [A/G] NM_001373 DNAH14 EXON Missense_K1010R exm152495 1 225268346 [A/G] NM_001373 DNAH14 EXON Missense_R1011Q exm152502 1 225270409 [A/T] NM_001373 DNAH14 EXON Missense_N1099Y exm152504 1 225273248 [T/G] NM_001373 DNAH14 EXON Missense_M1110I exm152511 1 225288534 [A/C] NM_001373 DNAH14 EXON Missense_E1272A exm152522 1 225328432 [T/G] NM_001373 DNAH14 Silent exm152529 1 225332296 [C/G] NM_001373 DNAH14 EXON Missense_T1552R exm152536 1 225340410 [A/G] NM_001373 DNAH14 EXON Missense_G1657E exm152541 1 225341473 [A/G] NM_001373 DNAH14 EXON Missense_R1723G exm152546 1 225373072 [T/C] NM_001373 DNAH14 EXON Missense_T1850M exm152551 1 225380398 [A/G] NM_001373 DNAH14 EXON Missense_I1869V exm152555 1 225380603 [A/C] NM_001373 DNAH14 EXON Missense_D1937A exm152562 1 225394812 [A/G] NM_001373 DNAH14 EXON Missense_R2088H exm152583 1 225452967 [A/G] NM_001373 DNAH14 EXON Missense_I2430V exm152585 1 225452983 [A/G] NM_001373 DNAH14 EXON Missense_N2435S exm152596 1 225459761 [T/C] NM_001373 DNAH14 EXON Nonsense_R2603X exm152614 1 225490915 [T/C] NM_001373 DNAH14 EXON Missense_R2804C exm152619 1 225492710 [T/C] NM_001373 DNAH14 EXON Missense_T2882I exm152622 1 225495188 [A/G] NM_001373 DNAH14 EXON Missense_T2918A exm152635 1 225512481 [A/G] NM_001373 DNAH14 EXON Missense_V3131I exm152638 1 225519212 [A/G] NM_001373 DNAH14 EXON Missense_R3173Q exm2232600 1 225519233 [T/G] NM_001373 DNAH14 EXON Missense_R3180L exm152640 1 225521101 [G/C] NM_001373 DNAH14 EXON Missense_E3232Q exm152649 1 225525139 [A/G] NM_001373 DNAH14 EXON Missense_S3325G exm152653 1 225525864 [C/G] NM_001373 DNAH14 EXON Missense_F3378L exm152659 1 225528340 [T/C] NM_001373 DNAH14 EXON Missense_L3446F exm152660 1 225533684 [A/G] NM_001373 DNAH14 EXON Missense_K3474E exm152664 1 225533739 [G/C] NM_001373 DNAH14 EXON Missense_R3492P exm152666 1 225533861 [A/G] NM_001373 DNAH14 EXON Missense_M3533V exm152672 1 225534219 [T/C] NM_001373 DNAH14 EXON Missense_V3627A exm152674 1 225534324 [T/C] NM_001373 DNAH14 EXON Missense_I3662T exm152676 1 225534348 [A/G] NM_001373 DNAH14 EXON Missense_R3670K exm152677 1 225539363 [A/G] NM_001373 DNAH14 EXON Missense_G3678S exm152694 1 225555602 [T/G] NM_001373 DNAH14 EXON Missense_N3969K exm152695 1 225555679 [A/G] NM_001373 DNAH14 EXON Missense_N3995S exm152701 1 225562475 [T/C] NM_001373 DNAH14 EXON Missense_I4042T exm152704 1 225565015 [T/C] NM_001373 DNAH14 EXON Missense_L4096P exm152707 1 225567870 [T/G] NM_001373 DNAH14 EXON Missense_Q4140H exm152709 1 225569094 [T/C] NM_001373 DNAH14 EXON Missense_P4195L exm152714 1 225569241 [T/G] NM_001373 DNAH14 EXON Missense_F4244C exm152729 1 225586807 [A/G] NM_001373 DNAH14 EXON Missense_A4462T exm152731 1 225586901 [A/C] NM_001373 DNAH14 EXON Nonsense_S4493X exm152734 1 225586971 [A/T] NM_001373 DNAH14 EXON Missense_X4516Y exm152747 1 225592184 [A/C] NM_194442,NM_002296 LBR,LBR EXON Missense_S537A,Missense_S537A exm1764566 1 225592364 [T/C] NM_194442,NM_002296 LBR,LBR EXON Missense_A510T,Missense_A510T exm152754 1 225594450 [A/T] NM_194442,NM_002296 LBR,LBR EXON Missense_I467F,Missense_I467F exm2273749 1 225594518 [T/G] NM_194442,NM_002296 LBR,LBR EXON Missense_T444N,Missense_T444N exm152763 1 225598018 [T/C] NM_194442,NM_002296 LBR,LBR EXON Missense_Y430C,Missense_Y430C exm152767 1 225598070 [A/G] NM_194442,NM_002296 LBR,LBR EXON Missense_R413C,Missense_R413C exm2265085 1 225598675 [A/G] NM_194442,NM_002296 LBR,LBR Silent,Silent exm152771 1 225599113 [A/G] NM_194442,NM_002296 LBR,LBR EXON Missense_R372C,Missense_R372C exm152775 1 225600183 [A/G] NM_194442,NM_002296 LBR,LBR EXON Missense_R353W,Missense_R353W exm152778 1 225600245 [A/G] NM_194442,NM_002296 LBR,LBR EXON Missense_A332V,Missense_A332V exm2232603 1 225600309 [T/C] NM_194442,NM_002296 LBR,LBR EXON Missense_T311A,Missense_T311A exm152785 1 225600341 [T/C] NM_194442,NM_002296 LBR,LBR EXON Missense_Y300C,Missense_Y300C exm152790 1 225603006 [T/C] NM_194442,NM_002296 LBR,LBR EXON Missense_G289E,Missense_G289E exm152801 1 225605777 [T/G] NM_194442,NM_002296 LBR,LBR EXON Missense_A249D,Missense_A249D exm152802 1 225605780 [A/G] NM_194442,NM_002296 LBR,LBR EXON Missense_P248L,Missense_P248L exm152816 1 225607144 [T/C] NM_194442,NM_002296 LBR,LBR EXON Missense_S154N,Missense_S154N exm152827 1 225609874 [A/G] NM_194442,NM_002296 LBR,LBR EXON Missense_P91S,Missense_P91S exm152830 1 225609909 [T/C] NM_194442,NM_002296 LBR,LBR EXON Missense_R79Q,Missense_R79Q exm152838 1 225611681 [T/C] NM_194442,NM_002296 LBR,LBR EXON Missense_T33A,Missense_T33A exm152842 1 225611735 [A/G] NM_194442,NM_002296 LBR,LBR EXON Nonsense_R15X,Nonsense_R15X exm152846 1 225685482 [T/C] NM_018212,NM_001008493 ENAH,ENAH EXON Missense_A570T,Missense_A591T exm152850 1 225688725 [A/G] NM_018212,NM_001008493 ENAH,ENAH EXON Missense_T529M,Missense_T550M exm152863 1 225700618 [G/C] NM_018212,NM_001008493 ENAH,ENAH EXON Missense_G440A,Missense_G440A exm2250812 1 225702574 [T/G] NM_018212,NM_001008493 ENAH,ENAH EXON Synonymous_P314P,Synonymous_P314P exm152892 1 225702588 [A/G] NM_018212,NM_001008493 ENAH,ENAH EXON Missense_P310S,Missense_P310S exm152906 1 225706908 [A/G] NM_018212,NM_001008493 ENAH,ENAH EXON Missense_S265L,Missense_S265L exm152921 1 225707058 [T/C] NM_018212,NM_001008493 ENAH,ENAH EXON Missense_R215H,Missense_R215H exm152922 1 225707059 [A/G] NM_018212,NM_001008493 ENAH,ENAH EXON Missense_R215C,Missense_R215C exm152977 1 226016551 [A/G] NM_001136018,NM_000120 EPHX1,EPHX1 EXON Missense_A41T,Missense_A41T exm152979 1 226016575 [T/C] NM_001136018,NM_000120 EPHX1,EPHX1 EXON Missense_R49C,Missense_R49C exm152980 1 226016593 [A/G] NM_001136018,NM_000120 EPHX1,EPHX1 EXON Missense_T55A,Missense_T55A exm152986 1 226019508 [A/G] NM_001136018,NM_000120 EPHX1,EPHX1 EXON Missense_R71H,Missense_R71H exm152988 1 226019542 [G/C] NM_001136018,NM_000120 EPHX1,EPHX1 EXON Missense_H82Q,Missense_H82Q exm152994 1 226019633 [T/C] NM_001136018,NM_000120 EPHX1,EPHX1 EXON Missense_Y113H,Missense_Y113H exm152995 1 226019646 [A/G] NM_001136018,NM_000120 EPHX1,EPHX1 EXON Missense_K117R,Missense_K117R exm2250814 1 226020988 [A/G] NM_001136018,NM_000120 EPHX1,EPHX1 Silent,Silent exm153002 1 226026377 [A/C] NM_001136018,NM_000120 EPHX1,EPHX1 EXON Missense_H129Q,Missense_H129Q exm2232609 1 226026405 [T/C] NM_001136018,NM_000120 EPHX1,EPHX1 EXON Missense_H139Y,Missense_H139Y exm153011 1 226026513 [A/G] NM_001136018,NM_000120 EPHX1,EPHX1 EXON Missense_E175K,Missense_E175K exm153012 1 226026573 [T/C] NM_001136018,NM_000120 EPHX1,EPHX1 EXON Missense_S195P,Missense_S195P exm153020 1 226027029 [T/C] NM_001136018,NM_000120 EPHX1,EPHX1 EXON Missense_M235T,Missense_M235T exm153025 1 226027575 [A/C] NM_001136018,NM_000120 EPHX1,EPHX1 EXON Missense_N256K,Missense_N256K exm1764694 1 226027630 [A/G] NM_001136018,NM_000120 EPHX1,EPHX1 EXON Missense_T275A,Missense_T275A exm153035 1 226027735 [A/G] NM_001136018,NM_000120 EPHX1,EPHX1 EXON Missense_V310I,Missense_V310I exm153048 1 226032903 [T/C] NM_001136018,NM_000120 EPHX1,EPHX1 EXON Missense_T408M,Missense_T408M exm153052 1 226032962 [T/C] NM_001136018,NM_000120 EPHX1,EPHX1 EXON Missense_R428C,Missense_R428C exm153058 1 226033041 [A/G] NM_001136018,NM_000120 EPHX1,EPHX1 EXON Missense_R454Q,Missense_R454Q exm153064 1 226034787 [A/G] NM_014698 TMEM63A EXON Missense_A793V exm153075 1 226034913 [A/G] NM_014698 TMEM63A EXON Missense_P751L exm153086 1 226037685 [T/C] NM_014698 TMEM63A EXON Missense_A667T exm153088 1 226037727 [T/C] NM_014698 TMEM63A EXON Missense_V653I exm153089 1 226037778 [C/G] NM_014698 TMEM63A EXON Missense_L636V exm153091 1 226040373 [A/G] NM_014698 TMEM63A EXON Missense_A632V exm153092 1 226040388 [A/G] NM_014698 TMEM63A EXON Missense_T627I exm153094 1 226040404 [T/C] NM_014698 TMEM63A EXON Missense_V622M exm1764728 1 226041346 [T/C] NM_014698 TMEM63A EXON Missense_R594H exm153100 1 226041377 [A/G] NM_014698 TMEM63A EXON Missense_R584C exm153111 1 226043614 [A/C] NM_014698 TMEM63A EXON Missense_F533L exm153124 1 226046964 [T/C] NM_014698 TMEM63A EXON Missense_T437A exm153131 1 226048611 [T/C] NM_014698 TMEM63A EXON Missense_Y391C exm153134 1 226048680 [T/C] NM_014698 TMEM63A EXON Missense_N368S exm153150 1 226050490 [A/T] NM_014698 TMEM63A EXON Missense_I270F exm153151 1 226050502 [T/C] NM_014698 TMEM63A EXON Missense_V266M exm153162 1 226053660 [T/C] NM_014698 TMEM63A EXON Missense_R228Q exm153164 1 226054333 [A/G] NM_014698 TMEM63A EXON Missense_L206F exm153165 1 226054344 [A/G] NM_014698 TMEM63A EXON Missense_I202T exm153177 1 226055624 [T/C] NM_014698 TMEM63A EXON Missense_V160I exm2232612 1 226055690 [C/G] NM_014698 TMEM63A EXON Missense_H138D exm1764761 1 226055696 [T/C] NM_014698 TMEM63A EXON Missense_A136T exm153194 1 226065232 [T/C] NM_014698 TMEM63A EXON Missense_I17V exm153199 1 226065268 [C/G] NM_014698 TMEM63A EXON Missense_P5A exm153215 1 226074563 [T/G] NM_020997 LEFTY1 EXON Missense_D322A exm1764777 1 226074572 [G/C] NM_020997 LEFTY1 EXON Missense_S319W exm153217 1 226074594 [T/C] NM_020997 LEFTY1 EXON Missense_G312R exm153219 1 226074608 [T/G] NM_020997 LEFTY1 EXON Missense_K307T exm153239 1 226075310 [T/C] NM_020997 LEFTY1 EXON Missense_K176E exm153240 1 226075316 [G/C] NM_020997 LEFTY1 EXON Missense_G174R exm153256 1 226076598 [T/C] NM_020997 LEFTY1 EXON Missense_V57M exm1764791 1 226108177 [G/C] NM_001271681,NM_013328 PYCR2,PYCR2 EXON Missense_A240G,Missense_A314G exm1764802 1 226109278 [T/C] NM_001271681,NM_013328 PYCR2,PYCR2 EXON Missense_I129V,Missense_I203V exm153278 1 226109287 [A/G] NM_001271681,NM_013328 PYCR2,PYCR2 EXON Missense_R126C,Missense_R200C exm2232619 1 226109948 [T/C] NM_001271681,NM_013328 PYCR2,PYCR2 EXON Missense_V92M,Missense_V92M exm153297 1 226110014 [C/G] NM_001271681,NM_013328 PYCR2,PYCR2 EXON Missense_V70L,Missense_V70L exm153298 1 226110029 [T/C] NM_001271681,NM_013328 PYCR2,PYCR2 EXON Missense_V65I,Missense_V65I exm153312 1 226125169 [A/G] NM_001172425,NM_003240 LEFTY2,LEFTY2 EXON Missense_A324V,Missense_A358V exm153336 1 226127272 [T/C] NM_001172425,NM_003240 LEFTY2,LEFTY2 EXON Missense_K142E,Missense_K176E exm153353 1 226128672 [T/C] NM_001172425,NM_003240 LEFTY2,LEFTY2 EXON Missense_V57M,Missense_V57M exm153356 1 226128744 [A/G] NM_001172425,NM_003240 LEFTY2,LEFTY2 EXON Missense_R33W,Missense_R33W exm1764836 1 226173043 [A/G] NM_152608 SDE2 EXON Missense_P439L exm153371 1 226173202 [T/C] NM_152608 SDE2 EXON Missense_D386G exm153372 1 226173217 [T/C] NM_152608 SDE2 EXON Missense_D381G exm153385 1 226175790 [A/G] NM_152608 SDE2 EXON Missense_T314I exm153386 1 226175795 [A/C] NM_152608 SDE2 EXON Missense_M312I exm153390 1 226175904 [T/C] NM_152608 SDE2 EXON Missense_H276R exm153403 1 226180186 [T/C] NM_152608 SDE2 EXON Missense_V145I exm153407 1 226180227 [T/C] NM_152608 SDE2 EXON Missense_E131G exm153409 1 226180592 [A/G] NM_152608 SDE2 EXON Missense_A117V exm153441 1 226340046 [G/C] NM_022735 ACBD3 EXON Missense_E455D exm153454 1 226342371 [T/G] NM_022735 ACBD3 EXON Missense_E356A exm153457 1 226342446 [A/G] NM_022735 ACBD3 EXON Missense_M331T exm153466 1 226349268 [T/C] NM_022735 ACBD3 EXON Missense_R231Q exm153469 1 226349319 [T/C] NM_022735 ACBD3 EXON Missense_R214H exm153470 1 226349320 [A/G] NM_022735 ACBD3 EXON Missense_R214C exm153476 1 226352498 [T/G] NM_022735 ACBD3 EXON Missense_E187D exm153479 1 226352599 [T/C] NM_022735 ACBD3 EXON Missense_K154E exm153500 1 226411686 [G/C] NM_031944 MIXL1 EXON Missense_E102Q exm153511 1 226413414 [A/C] NM_031944 MIXL1 EXON Missense_Q200H exm153527 1 226421157 [T/G] NM_001270409,NM_001270410,NM_173083 LIN9,LIN9,LIN9 EXON Missense_E419A,Missense_E386A,Missense_E454A exm1764936 1 226485443 [T/G] NM_001270409,NM_001270410,NM_173083 LIN9,LIN9,LIN9 EXON Missense_N62H,Silent,Missense_N62H exm153556 1 226485449 [A/C] NM_001270409,NM_001270410,NM_173083 LIN9,LIN9,LIN9 EXON Missense_G60C,Silent,Missense_G60C exm153557 1 226485458 [T/C] NM_001270409,NM_001270410,NM_173083 LIN9,LIN9,LIN9 EXON Missense_V57I,Silent,Missense_V57I exm153581 1 226550829 [T/C] NM_001618 PARP1 EXON Missense_K940R exm153599 1 226553677 [A/G] NM_001618 PARP1 EXON Missense_A828V exm153606 1 226555302 [A/G] NM_001618 PARP1 EXON Missense_V762A exm153619 1 226562006 [T/C] NM_001618 PARP1 EXON Missense_K664R exm153623 1 226564855 [A/G] NM_001618 PARP1 EXON Missense_T632M exm2232632 1 226566904 [T/C] NM_001618 PARP1 EXON Missense_I562V exm153642 1 226567298 [T/C] NM_001618 PARP1 EXON Missense_G530R exm153643 1 226567661 [A/G] NM_001618 PARP1 EXON Missense_A502V exm153652 1 226567795 [A/G] NM_001618 PARP1 EXON Synonymous_D457D exm153655 1 226567847 [T/C] NM_001618 PARP1 EXON Missense_N440S exm153657 1 226568798 [T/C] NM_001618 PARP1 EXON Missense_N424S exm153663 1 226570748 [T/G] NM_001618 PARP1 EXON Missense_S383Y exm153666 1 226570767 [A/G] NM_001618 PARP1 EXON Missense_P377S exm153671 1 226573216 [T/C] NM_001618 PARP1 EXON Missense_V334I exm153680 1 226573339 [A/G] NM_001618 PARP1 EXON Missense_L293F exm153684 1 226574028 [A/G] NM_001618 PARP1 EXON Missense_A278V exm153685 1 226574031 [A/G] NM_001618 PARP1 EXON Missense_S277L exm1765023 1 226576415 [A/G] NM_001618 PARP1 EXON Missense_A220V exm153691 1 226576418 [A/G] NM_001618 PARP1 EXON Missense_V219A exm153700 1 226578166 [T/C] NM_001618 PARP1 EXON Missense_A188T exm153708 1 226578278 [A/C] NM_001618 PARP1 EXON Missense_Q150H exm1765036 1 226589978 [A/G] NM_001618 PARP1 EXON Missense_S75P exm-rs7531792 1 226626277 [A/G] exm153745 1 226785102 [A/G] NM_001003665 C1orf95 Silent exm2250820 1 226813061 [T/C] exm153760 1 226822380 [C/G] NM_002221 ITPKB EXON Missense_L945V exm153767 1 226822473 [T/C] NM_002221 ITPKB EXON Missense_V914I exm2250821 1 226822525 [A/G] NM_002221 ITPKB EXON Synonymous_I896I exm153769 1 226822525 [A/G] NM_002221 ITPKB EXON Synonymous_I896I exm153778 1 226825448 [T/C] NM_002221 ITPKB EXON Missense_A853T exm153779 1 226827258 [G/C] NM_002221 ITPKB EXON Synonymous_L851L exm153794 1 226829794 [T/C] NM_002221 ITPKB EXON Missense_R760Q exm2265086 1 226833304 [A/G] NM_002221 ITPKB Silent exm2250822 1 226923264 [A/G] NM_002221 ITPKB EXON Synonymous_A632A exm153812 1 226923287 [A/G] NM_002221 ITPKB EXON Missense_R625C exm153829 1 226923473 [A/G] NM_002221 ITPKB EXON Missense_P563S exm153832 1 226923505 [T/G] NM_002221 ITPKB EXON Missense_P552Q exm153843 1 226923749 [G/C] NM_002221 ITPKB EXON Missense_P471A exm153844 1 226923779 [A/G] NM_002221 ITPKB EXON Missense_P461S exm1765219 1 226923911 [T/C] NM_002221 ITPKB EXON Missense_A417T exm153854 1 226923938 [A/C] NM_002221 ITPKB EXON Missense_S408A exm153855 1 226923982 [A/G] NM_002221 ITPKB EXON Missense_P393L exm153860 1 226924133 [T/C] NM_002221 ITPKB EXON Missense_V343M exm153866 1 226924196 [T/C] NM_002221 ITPKB EXON Missense_A322T exm153867 1 226924201 [T/G] NM_002221 ITPKB EXON Missense_D320A exm153870 1 226924241 [A/C] NM_002221 ITPKB EXON Missense_A307S exm153873 1 226924280 [A/C] NM_002221 ITPKB EXON Missense_G294W exm1765224 1 226924291 [A/G] NM_002221 ITPKB EXON Missense_A290V exm153876 1 226924363 [T/C] NM_002221 ITPKB EXON Missense_R266H exm153881 1 226924411 [T/C] NM_002221 ITPKB EXON Missense_G250D exm153889 1 226924569 [T/G] NM_002221 ITPKB EXON Missense_S197R exm153892 1 226924594 [T/C] NM_002221 ITPKB EXON Missense_R189K exm153893 1 226924595 [T/C] NM_002221 ITPKB EXON Missense_R189G exm153895 1 226924642 [T/C] NM_002221 ITPKB EXON Missense_R173H exm153899 1 226924790 [A/G] NM_002221 ITPKB EXON Missense_P124S exm153902 1 226924805 [A/G] NM_002221 ITPKB EXON Missense_L119F exm153906 1 226924886 [T/C] NM_002221 ITPKB EXON Missense_S92G exm153910 1 226924982 [C/G] NM_002221 ITPKB EXON Missense_P60A exm153931 1 227069693 [T/C] NM_012486,NM_000447 PSEN2,PSEN2 EXON Missense_R29C,Missense_R29C exm1765257 1 227069708 [A/G] NM_012486,NM_000447 PSEN2,PSEN2 EXON Missense_G34S,Missense_G34S exm153938 1 227071426 [C/G] NM_012486,NM_000447 PSEN2,PSEN2 EXON Missense_E54D,Missense_E54D exm1765266 1 227071430 [A/G] NM_012486,NM_000447 PSEN2,PSEN2 EXON Missense_G56S,Missense_G56S exm153941 1 227071449 [A/G] NM_012486,NM_000447 PSEN2,PSEN2 EXON Missense_R62H,Missense_R62H exm153953 1 227073271 [T/C] NM_012486,NM_000447 PSEN2,PSEN2 EXON Missense_S130L,Missense_S130L exm153960 1 227075813 [A/G] NM_012486,NM_000447 PSEN2,PSEN2 EXON Missense_M174V,Missense_M174V exm153972 1 227076717 [A/G] NM_012486,NM_000447 PSEN2,PSEN2 EXON Missense_A252T,Missense_A252T exm153982 1 227078994 [T/C] NM_012486,NM_000447 PSEN2,PSEN2 EXON Missense_T301M,Missense_T301M exm154012 1 227083263 [T/C] NM_012486,NM_000447 PSEN2,PSEN2 EXON Missense_H443Y,Missense_H444Y exm154015 1 227149097 [T/A] NM_020247 ADCK3 EXON Missense_I4K exm154019 1 227149153 [A/G] NM_020247 ADCK3 EXON Missense_V23M exm154025 1 227149223 [T/C] NM_020247 ADCK3 EXON Missense_T46M exm154029 1 227152761 [T/C] NM_020247 ADCK3 EXON Missense_H80Y exm154031 1 227152778 [T/G] NM_020247 ADCK3 EXON Missense_H85Q exm2250825 1 227152781 [A/C] NM_020247 ADCK3 EXON Synonymous_A86A exm154039 1 227152821 [T/G] NM_020247 ADCK3 EXON Missense_D100Y exm2275549 1 227153044 [A/C] NM_020247 ADCK3 EXON Missense_T174K exm1765358 1 227153384 [T/G] NM_020247 ADCK3 EXON Missense_A201S exm154071 1 227165224 [C/G] NM_020247 ADCK3 EXON Missense_G244R exm154085 1 227169808 [T/C] NM_020247 ADCK3 EXON Missense_R271C exm154093 1 227170420 [T/C] NM_020247 ADCK3 EXON Missense_R299W exm154098 1 227170644 [A/G] NM_020247 ADCK3 EXON Missense_Y330C exm154137 1 227171824 [A/G] NM_020247 ADCK3 EXON Missense_Y429C exm154140 1 227171916 [A/G] NM_020247 ADCK3 EXON Missense_S460G exm154150 1 227172604 [T/C] NM_020247 ADCK3 EXON Missense_R512W exm154151 1 227172605 [A/G] NM_020247 ADCK3 EXON Missense_R512Q exm154161 1 227172987 [G/C] NM_020247 ADCK3 EXON Missense_E535D exm154162 1 227172988 [A/G] NM_020247 ADCK3 EXON Missense_T536A exm154165 1 227173027 [A/G] NM_020247 ADCK3 EXON Missense_G549S exm154169 1 227174159 [A/G] NM_020247 ADCK3 EXON Missense_M555I exm154172 1 227174171 [G/C] NM_020247 ADCK3 EXON Missense_H559Q exm154176 1 227174214 [A/G] NM_020247 ADCK3 EXON Missense_E574K exm2250826 1 227174318 [T/C] NM_020247 ADCK3 EXON Synonymous_S608S exm154185 1 227174370 [T/C] NM_020247 ADCK3 EXON Missense_R626C exm2273349 1 227178948 [A/G] NM_003607,NM_014826 CDC42BPA,CDC42BPA EXON Silent,Silent exm154203 1 227182033 [A/G] NM_003607,NM_014826 CDC42BPA,CDC42BPA EXON Missense_A1699V,Missense_A1618V exm154206 1 227182529 [T/C] NM_003607,NM_014826 CDC42BPA,CDC42BPA EXON Missense_G1675R,Missense_G1594R exm2232646 1 227182538 [T/C] NM_003607,NM_014826 CDC42BPA,CDC42BPA EXON Missense_D1672N,Missense_D1591N exm154223 1 227192743 [A/G] NM_003607,NM_014826 CDC42BPA,CDC42BPA EXON Missense_R1608C,Missense_R1527C exm154238 1 227203825 [T/C] NM_003607,NM_014826 CDC42BPA,CDC42BPA EXON Missense_M1570V,Missense_M1489V exm154240 1 227204673 [T/C] NM_003607,NM_014826 CDC42BPA,CDC42BPA EXON Missense_R1530H,Missense_R1449H exm154243 1 227211032 [T/C] NM_003607,NM_014826 CDC42BPA,CDC42BPA EXON Missense_N1481S,Missense_N1400S exm154249 1 227216376 [A/C] NM_003607,NM_014826 CDC42BPA,CDC42BPA EXON Missense_A1437S,Missense_A1356S exm154259 1 227216775 [T/C] NM_003607,NM_014826 CDC42BPA,CDC42BPA EXON Missense_V1304I,Missense_V1223I exm154269 1 227219067 [T/C] NM_003607,NM_014826 CDC42BPA,CDC42BPA EXON Missense_Y1201C,Missense_Y1120C exm154270 1 227219076 [T/C] NM_003607,NM_014826 CDC42BPA,CDC42BPA EXON Missense_R1198H,Missense_R1117H exm154276 1 227221085 [T/C] NM_003607,NM_014826 CDC42BPA,CDC42BPA EXON Missense_A1135T,Missense_A1054T exm154284 1 227223273 [T/C] NM_003607,NM_014826 CDC42BPA,CDC42BPA EXON Missense_K1044E,Missense_K963E exm154314 1 227268601 [T/G] NM_003607,NM_014826 CDC42BPA,CDC42BPA EXON Missense_I825L,Missense_I744L exm2232649 1 227268705 [T/C] NM_003607,NM_014826 CDC42BPA,CDC42BPA EXON Missense_Y790C,Missense_Y709C exm154317 1 227279603 [A/G] NM_003607,NM_014826 CDC42BPA,CDC42BPA EXON Missense_T780M,Missense_T699M exm154354 1 227333195 [T/A] NM_003607,NM_014826 CDC42BPA,CDC42BPA EXON Missense_N380Y,Missense_N380Y exm154367 1 227348245 [A/G] NM_003607,NM_014826 CDC42BPA,CDC42BPA EXON Missense_T231M,Missense_T231M exm154380 1 227381550 [T/C] NM_003607,NM_014826 CDC42BPA,CDC42BPA EXON Missense_R179K,Missense_R179K exm154381 1 227387293 [T/C] NM_003607,NM_014826 CDC42BPA,CDC42BPA EXON Missense_T139A,Missense_T139A exm2268840 1 227418130 [T/C] NM_003607,NM_014826 CDC42BPA,CDC42BPA Silent,Silent exm154433 1 227842385 [T/G] NR_033184,NM_178549 ZNF678,ZNF678 EXON Silent,Missense_R200I exm154470 1 227842973 [A/G] NR_033184,NM_178549 ZNF678,ZNF678 EXON Silent,Missense_R396K exm154472 1 227843003 [A/G] NR_033184,NM_178549 ZNF678,ZNF678 EXON Silent,Missense_C406Y exm154473 1 227843007 [A/T] NR_033184,NM_178549 ZNF678,ZNF678 EXON Silent,Missense_E407D exm154496 1 227843423 [A/G] NR_033184,NM_178549 ZNF678,ZNF678 EXON Silent,Missense_C546Y exm-rs10799445 1 227911883 [A/C] exm154513 1 227920196 [A/G] NR_024485,NR_024486,NM_023007,NM_001161465 LOC100130093,LOC100130093,JMJD4,JMJD4 EXON Silent,Silent,Missense_A430V,Missense_A414V exm1765715 1 227920353 [T/C] NR_024485,NR_024486,NM_023007,NM_001161465 LOC100130093,LOC100130093,JMJD4,JMJD4 EXON Silent,Silent,Missense_I378V,Missense_I362V exm154523 1 227920602 [T/C] NR_024485,NR_024486,NM_023007,NM_001161465 LOC100130093,LOC100130093,JMJD4,JMJD4 EXON Silent,Silent,Missense_D363N,Silent exm154525 1 227920623 [T/C] NR_024485,NR_024486,NM_023007,NM_001161465 LOC100130093,LOC100130093,JMJD4,JMJD4 EXON Silent,Silent,Missense_E356K,Silent exm154529 1 227920665 [A/G] NR_024485,NR_024486,NM_023007,NM_001161465 LOC100130093,LOC100130093,JMJD4,JMJD4 EXON Silent,Silent,Missense_F342L,Missense_F342L exm154530 1 227920668 [A/G] NR_024485,NR_024486,NM_023007,NM_001161465 LOC100130093,LOC100130093,JMJD4,JMJD4 EXON Silent,Silent,Missense_R341C,Missense_R341C exm154534 1 227920694 [T/C] NR_024485,NR_024486,NM_023007,NM_001161465 LOC100130093,LOC100130093,JMJD4,JMJD4 EXON Silent,Silent,Missense_N332S,Missense_N332S exm2250831 1 227921166 [T/C] NR_024485,NR_024486,NM_023007,NM_001161465 LOC100130093,LOC100130093,JMJD4,JMJD4 EXON Silent,Silent,Synonymous_A303A,Synonymous_A303A exm154542 1 227921228 [T/C] NR_024485,NR_024486,NM_023007,NM_001161465 LOC100130093,LOC100130093,JMJD4,JMJD4 EXON Silent,Silent,Missense_D283N,Missense_D283N exm154550 1 227921714 [T/C] NR_024485,NR_024486,NM_023007,NM_001161465 LOC100130093,LOC100130093,JMJD4,JMJD4 EXON Silent,Silent,Missense_V196I,Missense_V196I exm154551 1 227921717 [T/C] NR_024485,NR_024486,NM_023007,NM_001161465 LOC100130093,LOC100130093,JMJD4,JMJD4 EXON Silent,Silent,Missense_D195N,Missense_D195N exm154559 1 227922448 [A/G] NM_023007,NM_001161465 JMJD4,JMJD4 EXON Missense_T157I,Missense_T157I exm154560 1 227922452 [A/T] NM_023007,NM_001161465 JMJD4,JMJD4 EXON Missense_M156L,Missense_M156L exm154566 1 227922485 [A/C] NM_023007,NM_001161465 JMJD4,JMJD4 EXON Missense_V145F,Missense_V145F exm154570 1 227922866 [T/C] NM_023007,NM_001161465,NM_053052 JMJD4,JMJD4,SNAP47 EXON Missense_G83S,Missense_G83S,Silent exm154571 1 227922874 [G/C] NM_023007,NM_001161465,NM_053052 JMJD4,JMJD4,SNAP47 EXON Missense_S80W,Missense_S80W,Silent exm154577 1 227922975 [T/C] NM_023007,NM_001161465,NM_053052 JMJD4,JMJD4,SNAP47 EXON Nonsense_W46X,Nonsense_W46X,Silent exm154589 1 227923195 [T/C] NM_053052 SNAP47 EXON Missense_P29S exm154592 1 227935421 [T/C] NM_053052 SNAP47 EXON Missense_T40I exm154594 1 227935444 [A/G] NM_053052 SNAP47 EXON Missense_R48G exm154598 1 227935529 [T/C] NM_053052 SNAP47 EXON Missense_S76L exm154606 1 227935639 [A/G] NM_053052 SNAP47 EXON Missense_I113V exm154611 1 227935754 [A/C] NM_053052 SNAP47 EXON Missense_P151H exm154612 1 227935762 [A/G] NM_053052 SNAP47 EXON Missense_V154M exm154614 1 227935790 [A/G] NM_053052 SNAP47 EXON Missense_R163Q exm2232664 1 227935831 [T/C] NM_053052 SNAP47 EXON Missense_R177C exm154616 1 227935835 [T/A] NM_053052 SNAP47 EXON Missense_L178Q exm154622 1 227935930 [G/C] NM_053052 SNAP47 EXON Missense_D210H exm154625 1 227946805 [T/C] NM_053052 SNAP47 EXON Missense_P248S exm154638 1 227947141 [A/G] NM_053052 SNAP47 EXON Missense_R360G exm154642 1 227954668 [G/C] NM_053052 SNAP47 EXON Missense_L378V exm154643 1 227954677 [T/C] NM_053052 SNAP47 EXON Missense_R381C exm154644 1 227954689 [T/C] NM_053052 SNAP47 EXON Missense_R385C exm154645 1 227954701 [A/G] NM_053052 SNAP47 EXON Missense_A389T exm154646 1 227954716 [A/G] NM_053052 SNAP47 EXON Missense_G394S exm154660 1 227968303 [A/G] NM_053052 SNAP47 EXON Missense_V442I exm154670 1 228003508 [A/G] NM_183062 PRSS38 EXON Missense_A31T exm154675 1 228003800 [A/G] NM_183062 PRSS38 EXON Missense_R53Q exm154681 1 228003839 [T/C] NM_183062 PRSS38 EXON Missense_A66V exm154686 1 228003871 [A/G] NM_183062 PRSS38 EXON Missense_V77M exm154692 1 228003901 [A/G] NM_183062 PRSS38 EXON Missense_G87S exm1765817 1 228004911 [A/G] NM_183062 PRSS38 EXON Missense_D105N exm154702 1 228004966 [A/C] NM_183062 PRSS38 EXON Missense_A123D exm154704 1 228004975 [T/A] NM_183062 PRSS38 EXON Missense_H126L exm154708 1 228005023 [A/G] NM_183062 PRSS38 EXON Missense_E142G exm154709 1 228005040 [A/G] NM_183062 PRSS38 EXON Missense_G148R exm1765819 1 228005073 [T/C] NM_183062 PRSS38 EXON Missense_R159C exm154712 1 228005074 [A/G] NM_183062 PRSS38 EXON Missense_R159H exm154713 1 228005092 [A/C] NM_183062 PRSS38 EXON Missense_S165Y exm154722 1 228033197 [A/G] NM_183062 PRSS38 EXON Missense_M204V exm154723 1 228033207 [T/C] NM_183062 PRSS38 EXON Missense_P207L exm154728 1 228033258 [A/T] NM_183062 PRSS38 EXON Missense_I224N exm154733 1 228033311 [A/G] NM_183062 PRSS38 EXON Missense_E242K exm1765828 1 228033667 [G/C] NM_183062 PRSS38 EXON Missense_G247R exm154737 1 228033692 [A/G] NM_183062 PRSS38 EXON Missense_R255H exm154740 1 228033728 [A/G] NM_183062 PRSS38 EXON Missense_R267Q exm2260027 1 228057761 [A/G] exm154757 1 228109247 [T/C] NM_003395 WNT9A EXON Missense_R357H exm154765 1 228109381 [A/C] NM_003395 WNT9A EXON Missense_R312S exm154773 1 228109506 [A/G] NM_003395 WNT9A EXON Missense_R271W exm154780 1 228109637 [T/C] NM_003395 WNT9A EXON Missense_R227Q exm2264961 1 228126470 [A/G] NM_003395 WNT9A Silent exm154833 1 228210573 [A/G] NM_033131 WNT3A EXON Missense_D93N exm154839 1 228238443 [A/G] NM_033131 WNT3A EXON Missense_A134T exm154873 1 228284831 [A/G] NM_001658,NM_001024226,NM_001024227,NM_001024228 ARF1,ARF1,ARF1,ARF1 EXON Missense_A6T,Missense_A6T,Missense_A6T,Missense_A6T exm154900 1 228288863 [T/C] NM_024319 C1orf35 EXON Missense_R254H exm154924 1 228290033 [T/C] NM_024319 C1orf35 EXON Missense_K142R exm154925 1 228290051 [T/G] NM_024319 C1orf35 EXON Missense_E136A exm154951 1 228294567 [T/C] NM_181464,NM_181455,NM_181456,NM_181465,NM_181462,NM_181441,NM_181454,NM_181463 MRPL55,MRPL55,MRPL55,MRPL55,MRPL55,MRPL55,MRPL55,MRPL55 EXON Missense_R94Q,Missense_R94Q,Missense_R94Q,Missense_R94Q,Missense_R130Q,Missense_R94Q,Missense_R94Q,Missense_R94Q exm154960 1 228295369 [T/C] NM_181464,NM_181455,NM_181456,NM_181465,NM_181462,NM_181441,NM_181454,NM_181463 MRPL55,MRPL55,MRPL55,MRPL55,MRPL55,MRPL55,MRPL55,MRPL55 EXON Synonymous_A76A,Synonymous_A76A,Synonymous_A76A,Synonymous_A76A,Synonymous_A112A,Synonymous_A76A,Synonymous_A76A,Synonymous_A76A exm154965 1 228295410 [T/G] NM_181464,NM_181455,NM_181456,NM_181465,NM_181462,NM_181441,NM_181454,NM_181463 MRPL55,MRPL55,MRPL55,MRPL55,MRPL55,MRPL55,MRPL55,MRPL55 EXON Missense_T63P,Missense_T63P,Missense_T63P,Missense_T63P,Missense_T99P,Missense_T63P,Missense_T63P,Missense_T63P exm154974 1 228295503 [A/G] NM_181464,NM_181455,NM_181456,NM_181465,NM_181462,NM_181441,NM_181454,NM_181463 MRPL55,MRPL55,MRPL55,MRPL55,MRPL55,MRPL55,MRPL55,MRPL55 EXON Nonsense_R32X,Nonsense_R32X,Nonsense_R32X,Nonsense_R32X,Nonsense_R68X,Nonsense_R32X,Nonsense_R32X,Nonsense_R32X exm154976 1 228295527 [A/G] NM_181464,NM_181455,NM_181456,NM_181465,NM_181462,NM_181441,NM_181454,NM_181463 MRPL55,MRPL55,MRPL55,MRPL55,MRPL55,MRPL55,MRPL55,MRPL55 EXON Missense_R24C,Missense_R24C,Missense_R24C,Missense_R24C,Missense_R60C,Missense_R24C,Missense_R24C,Missense_R24C exm154981 1 228295697 [T/C] NM_181464,NM_181455,NM_181456,NM_181465,NM_181462,NM_181441,NM_181454,NM_181463 MRPL55,MRPL55,MRPL55,MRPL55,MRPL55,MRPL55,MRPL55,MRPL55 EXON Silent,Silent,Silent,Silent,Missense_G39S,Silent,Silent,Silent exm154986 1 228295961 [T/G] NM_181464,NM_181455,NM_181456,NM_181465,NM_181462,NM_181441,NM_181454,NM_181463 MRPL55,MRPL55,MRPL55,MRPL55,MRPL55,MRPL55,MRPL55,MRPL55 EXON Missense_M1L,Missense_M1L,Missense_M1L,Missense_M1L,Missense_M1L,Missense_M1L,Missense_M1L,Missense_M1L exm155037 1 228335388 [A/G] NM_001242839,NM_001159390,NM_001242840,NM_000858,NM_001159391 GUK1,GUK1,GUK1,GUK1,GUK1 EXON Missense_D155N,Missense_D176N,Missense_D176N,Missense_D155N,Missense_D155N exm2250835 1 228336130 [T/C] NM_001242839,NM_001159390,NM_001242840,NM_000858,NM_001159391 GUK1,GUK1,GUK1,GUK1,GUK1 EXON Synonymous_Y178Y,Synonymous_Y199Y,Silent,Synonymous_Y178Y,Synonymous_Y178Y exm155046 1 228336131 [A/G] NM_001242839,NM_001159390,NM_001242840,NM_000858,NM_001159391 GUK1,GUK1,GUK1,GUK1,GUK1 EXON Missense_A179T,Missense_A200T,Silent,Missense_A179T,Missense_A179T exm155138 1 228353528 [T/C] NM_001010867 IBA57 EXON Missense_A4V exm155162 1 228362625 [A/G] NM_001010867 IBA57 EXON Missense_A192T exm155164 1 228362650 [T/C] NM_001010867 IBA57 EXON Missense_T200I exm155167 1 228362682 [A/G] NM_001010867 IBA57 EXON Missense_G211S exm1765995 1 228363073 [C/G] NM_001010867 IBA57 EXON Missense_F310L exm1765996 1 228363090 [A/C] NM_001010867 IBA57 EXON Missense_N316T exm155191 1 228363123 [T/C] NM_001010867 IBA57 EXON Missense_I327T exm155193 1 228363176 [A/G] NM_001010867 IBA57 EXON Missense_A345T exm1766011 1 228399519 [T/A] NR_073155,NR_073154,NM_001271223,NM_052843,NM_001098623 C1orf145,C1orf145,OBSCN,OBSCN,OBSCN EXON Silent,Silent,Missense_F12Y,Missense_F12Y,Missense_F12Y exm155198 1 228399551 [A/G] NR_073155,NR_073154,NM_001271223,NM_052843,NM_001098623 C1orf145,C1orf145,OBSCN,OBSCN,OBSCN EXON Silent,Silent,Missense_V23M,Missense_V23M,Missense_V23M exm155205 1 228399671 [A/G] NR_073155,NR_073154,NM_001271223,NM_052843,NM_001098623 C1orf145,C1orf145,OBSCN,OBSCN,OBSCN EXON Silent,Silent,Missense_D63N,Missense_D63N,Missense_D63N exm155228 1 228400211 [C/G] NR_073155,NR_073154,NM_001271223,NM_052843,NM_001098623 C1orf145,C1orf145,OBSCN,OBSCN,OBSCN EXON Silent,Silent,Missense_G243R,Missense_G243R,Missense_G243R exm155255 1 228401352 [T/C] NR_073155,NR_073154,NM_001271223,NM_052843,NM_001098623 C1orf145,C1orf145,OBSCN,OBSCN,OBSCN EXON Silent,Silent,Missense_A400V,Missense_A400V,Missense_A400V exm155256 1 228401940 [G/C] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_V442L,Missense_V442L,Missense_V442L exm155263 1 228402121 [A/G] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_Q502R,Missense_Q502R,Missense_Q502R exm155288 1 228403429 [A/G] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_R665Q,Missense_R665Q,Missense_R665Q exm155295 1 228403476 [G/C] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_Q681E,Missense_Q681E,Missense_Q681E exm155307 1 228404292 [A/G] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_A756T,Missense_A756T,Missense_A756T exm155310 1 228404305 [A/G] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_R760Q,Missense_R760Q,Missense_R760Q exm155315 1 228404368 [A/G] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_R781H,Missense_R781H,Missense_R781H exm155317 1 228404377 [A/G] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_R784H,Missense_R784H,Missense_R784H exm155319 1 228404401 [A/G] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_Q792R,Missense_Q792R,Missense_Q792R exm155331 1 228404818 [T/G] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_V828L,Missense_V828L,Missense_V828L exm155332 1 228404864 [A/G] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_R843H,Missense_R843H,Missense_R843H exm155344 1 228412195 [T/C] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_R989C,Missense_R897C,Missense_R897C exm155365 1 228412415 [T/C] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_S1062F,Missense_S970F,Missense_S970F exm155382 1 228431063 [T/C] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_R1129W,Missense_R1037W,Missense_R1037W exm155389 1 228432047 [T/G] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_A1178S,Missense_A1086S,Missense_A1086S exm155402 1 228432227 [T/C] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_C1238R,Missense_C1146R,Missense_C1146R exm2232675 1 228432239 [A/G] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_G1242S,Missense_G1150S,Missense_G1150S exm155405 1 228432264 [T/A] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_H1250L,Missense_H1158L,Missense_H1158L exm155409 1 228433171 [T/C] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_A1272V,Missense_A1180V,Missense_A1180V exm155417 1 228433353 [A/G] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_G1333R,Missense_G1241R,Missense_G1241R exm155423 1 228434276 [T/C] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_R1361W,Missense_R1269W,Missense_R1269W exm155424 1 228434277 [A/G] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_R1361Q,Missense_R1269Q,Missense_R1269Q exm155439 1 228434472 [A/G] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_G1426D,Missense_G1334D,Missense_G1334D exm155442 1 228437667 [C/G] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_E1437D,Missense_E1345D,Missense_E1345D exm155447 1 228437717 [T/C] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_A1454V,Missense_A1362V,Missense_A1362V exm155467 1 228444472 [A/G] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_K1569R,Missense_K1477R,Missense_K1477R exm155481 1 228444600 [T/C] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_R1612W,Missense_R1520W,Missense_R1520W exm155538 1 228461504 [A/G] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_R2099H,Missense_R1724H,Missense_R1724H exm155539 1 228461527 [G/C] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_E2107Q,Missense_E1732Q,Missense_E1732Q exm155545 1 228461611 [T/C] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_R2135C,Missense_R1760C,Missense_R1760C exm155546 1 228461615 [A/G] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_R2136H,Missense_R1761H,Missense_R1761H exm155555 1 228461900 [A/G] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_R2188Q,Missense_R1813Q,Missense_R1813Q exm155556 1 228461936 [T/C] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_T2200M,Missense_T1825M,Missense_T1825M exm155562 1 228461999 [T/C] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_T2221M,Missense_T1846M,Missense_T1846M exm155563 1 228462007 [T/C] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_R2224W,Missense_R1849W,Missense_R1849W exm155581 1 228462332 [A/G] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_E2290K,Missense_E1915K,Missense_E1915K exm155586 1 228462440 [G/C] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_A2326P,Missense_A1951P,Missense_A1951P exm155590 1 228462495 [T/C] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_T2344I,Missense_T1969I,Missense_T1969I exm155594 1 228462539 [T/C] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Nonsense_R2359X,Nonsense_R1984X,Nonsense_R1984X exm155609 1 228463680 [T/G] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_G2433V,Missense_G2058V,Missense_G2058V exm155615 1 228464172 [A/G] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_R2456Q,Missense_R2081Q,Missense_R2081Q exm155617 1 228464248 [T/G] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_D2481E,Missense_D2106E,Missense_D2106E exm155618 1 228464255 [T/C] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_W2484R,Missense_W2109R,Missense_W2109R exm155619 1 228464267 [T/G] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_G2488C,Missense_G2113C,Missense_G2113C exm155621 1 228464276 [T/C] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_F2491L,Missense_F2116L,Missense_F2116L exm155624 1 228464303 [T/G] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_A2500S,Missense_A2125S,Missense_A2125S exm155626 1 228464316 [G/C] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_P2504R,Missense_P2129R,Missense_P2129R exm155651 1 228465000 [T/C] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_S2622F,Missense_S2247F,Missense_S2247F exm155656 1 228465516 [T/G] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_F2701L,Missense_F2272L,Missense_F2272L exm155658 1 228465550 [T/C] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Nonsense_R2713X,Nonsense_R2284X,Nonsense_R2284X exm155659 1 228466407 [T/G] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_V2722L,Missense_V2293L,Missense_V2293L exm155675 1 228466977 [T/C] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_P2839S,Missense_P2410S,Missense_P2410S exm155680 1 228467064 [T/C] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_R2868W,Missense_R2439W,Missense_R2439W exm155685 1 228467079 [T/A] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_T2873S,Missense_T2444S,Missense_T2444S exm155687 1 228467095 [T/C] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_V2878A,Missense_V2449A,Missense_V2449A exm155689 1 228467106 [A/G] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_V2882I,Missense_V2453I,Missense_V2453I exm155692 1 228467130 [T/C] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_R2890C,Missense_R2461C,Missense_R2461C exm155694 1 228467543 [A/G] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_R2902Q,Missense_R2473Q,Missense_R2473Q exm155699 1 228467642 [T/C] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_T2935M,Missense_T2506M,Missense_T2506M exm155706 1 228467711 [A/G] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_R2958Q,Missense_R2529Q,Missense_R2529Q exm155711 1 228467881 [A/G] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Synonymous_A2984A,Synonymous_A2555A,Synonymous_A2555A exm155718 1 228467969 [G/C] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_D3014H,Missense_D2585H,Missense_D2585H exm155720 1 228467994 [A/G] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_N3022S,Missense_N2593S,Missense_N2593S exm155722 1 228468069 [A/G] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_S3047N,Missense_S2618N,Missense_S2618N exm155737 1 228468437 [A/G] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_A3142T,Missense_A2713T,Missense_A2713T exm155739 1 228468458 [A/G] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_V3149M,Missense_V2720M,Missense_V2720M exm155754 1 228469801 [C/G] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_G3218R,Missense_G2789R,Missense_G2789R exm155756 1 228469825 [T/C] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_R3226W,Missense_R2797W,Missense_R2797W exm155757 1 228469826 [A/G] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_R3226Q,Missense_R2797Q,Missense_R2797Q exm155759 1 228469861 [T/G] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_F3238V,Missense_F2809V,Missense_F2809V exm155760 1 228469870 [T/C] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_R3241W,Missense_R2812W,Missense_R2812W exm155761 1 228469873 [G/C] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_G3242R,Missense_G2813R,Missense_G2813R exm155765 1 228469904 [T/G] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_R3252I,Missense_R2823I,Missense_R2823I exm155769 1 228470764 [T/C] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_A3268V,Missense_A2839V,Missense_A2839V exm155772 1 228470803 [A/G] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_R3281Q,Missense_R2852Q,Missense_R2852Q exm155774 1 228470847 [T/C] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_R3296C,Missense_R2867C,Missense_R2867C exm155786 1 228471293 [A/G] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_A3372T,Missense_A2943T,Missense_A2943T exm155788 1 228471312 [A/G] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_R3378H,Missense_R2949H,Missense_R2949H exm2250836 1 228471379 [G/C] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Synonymous_R3400R,Synonymous_R2971R,Synonymous_R2971R exm155803 1 228473854 [A/G] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_R3456Q,Missense_R3027Q,Missense_R3027Q exm155815 1 228473959 [T/G] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_V3491G,Missense_V3062G,Missense_V3062G exm2250837 1 228474547 [T/C] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Synonymous_C3546C,Synonymous_C3117C,Synonymous_C3117C exm155825 1 228474548 [A/G] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_E3547K,Missense_E3118K,Missense_E3118K exm155828 1 228474567 [T/C] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_I3553T,Missense_I3124T,Missense_I3124T exm155843 1 228475581 [A/G] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_R3673Q,Missense_R3244Q,Missense_R3244Q exm155846 1 228475604 [A/G] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_G3681R,Missense_G3252R,Missense_G3252R exm155853 1 228475819 [T/C] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_T3719M,Missense_T3290M,Missense_T3290M exm155861 1 228475954 [T/C] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_A3764V,Missense_A3335V,Missense_A3335V exm155867 1 228476025 [A/C] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_P3788T,Missense_P3359T,Missense_P3359T exm155869 1 228476366 [T/G] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_E3801D,Missense_E3372D,Missense_E3372D exm155871 1 228476389 [T/C] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_T3809M,Missense_T3380M,Missense_T3380M exm155904 1 228480317 [T/C] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_P3995L,Missense_P3566L,Missense_P3566L exm155905 1 228480319 [G/C] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_V3996L,Missense_V3567L,Missense_V3567L exm155915 1 228481067 [C/G] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_K4056N,Missense_K3627N,Missense_K3627N exm2232686 1 228481084 [A/G] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_R4062K,Missense_R3633K,Missense_R3633K exm155925 1 228481257 [A/G] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_A4120T,Missense_A3691T,Missense_A3691T exm155930 1 228481314 [A/G] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_R4139G,Missense_R3710G,Missense_R3710G exm155931 1 228481854 [T/C] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Synonymous_A4140A,Synonymous_A3711A,Synonymous_A3711A exm155934 1 228481897 [A/C] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_T4155P,Missense_T3726P,Missense_T3726P exm155960 1 228482738 [A/G] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_V4314I,Missense_V3885I,Missense_V3885I exm156004 1 228494144 [T/G] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_C4868G,Missense_C3911G,Missense_C3911G exm156009 1 228494216 [T/C] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_R4892W,Missense_R3935W,Missense_R3935W exm156011 1 228494243 [A/G] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_A4901T,Missense_A3944T,Missense_A3944T exm156022 1 228494790 [A/G] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_G4996R,Missense_G4039R,Missense_G4039R exm156026 1 228494830 [T/C] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_T5009M,Missense_T4052M,Missense_T4052M exm2232689 1 228494856 [T/C] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_L5018F,Missense_L4061F,Missense_L4061F exm156038 1 228495112 [A/G] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_E5073K,Missense_E4116K,Missense_E4116K exm156045 1 228495226 [T/G] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_V5111F,Missense_V4154F,Missense_V4154F exm156046 1 228495821 [T/G] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_V5116G,Missense_V4159G,Missense_V4159G exm156047 1 228495832 [T/C] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_R5120W,Missense_R4163W,Missense_R4163W exm156057 1 228495983 [A/G] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_R5170H,Missense_R4213H,Missense_R4213H exm156064 1 228496066 [T/G] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_A5198S,Missense_A4241S,Missense_A4241S exm156069 1 228496905 [A/G] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_R5239H,Missense_R4282H,Missense_R4282H exm156072 1 228497189 [T/C] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_T5271I,Missense_T4314I,Missense_T4314I exm156076 1 228503566 [A/G] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_R5301Q,Missense_R4344Q,Missense_R4344Q exm156078 1 228503579 [A/T] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_N5305K,Missense_N4348K,Missense_N4348K exm156080 1 228503592 [A/G] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_E5310K,Missense_E4353K,Missense_E4353K exm156087 1 228503679 [A/G] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_T5339A,Missense_T4382A,Missense_T4382A exm156090 1 228503686 [A/G] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_E5341G,Missense_E4384G,Missense_E4384G exm156096 1 228504472 [T/C] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_C5407R,Missense_C4450R,Missense_C4450R exm156104 1 228504574 [A/G] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_A5441T,Missense_A4484T,Missense_A4484T exm156106 1 228504577 [A/G] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_D5442N,Missense_D4485N,Missense_D4485N exm156107 1 228504586 [C/G] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_H5445D,Missense_H4488D,Missense_H4488D exm156108 1 228504591 [A/C] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_H5446Q,Missense_H4489Q,Missense_H4489Q exm156120 1 228505204 [A/G] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_R5491H,Missense_R4534H,Missense_R4534H exm156124 1 228505257 [A/G] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_G5509S,Missense_G4552S,Missense_G4552S exm156126 1 228505275 [T/C] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_R5515C,Missense_R4558C,Missense_R4558C exm156127 1 228505276 [A/G] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_R5515H,Missense_R4558H,Missense_R4558H exm156132 1 228505378 [A/G] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_Y5549C,Missense_Y4592C,Missense_Y4592C exm156141 1 228505668 [C/G] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_S5599C,Missense_S4642C,Missense_S4642C exm156143 1 228505725 [A/C] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_E5618A,Missense_E4661A,Missense_E4661A exm156144 1 228505727 [T/C] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_R5619C,Missense_R4662C,Missense_R4662C exm156146 1 228505739 [A/G] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_G5623S,Missense_G4666S,Missense_G4666S exm156153 1 228506687 [A/G] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_R5702Q,Missense_R4745Q,Missense_R4745Q exm156158 1 228506756 [T/C] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_S5725L,Missense_S4768L,Missense_S4768L exm156159 1 228506761 [T/C] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_R5727C,Missense_R4770C,Missense_R4770C exm156161 1 228506768 [T/C] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_P5729L,Missense_P4772L,Missense_P4772L exm156167 1 228506912 [T/C] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_L5777P,Missense_L4820P,Missense_L4820P exm156168 1 228509093 [A/C] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_P5808T,Missense_P4851T,Missense_P4851T exm156170 1 228509109 [A/G] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_R5813H,Missense_R4856H,Missense_R4856H exm156184 1 228509331 [A/G] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_R5887H,Missense_R4930H,Missense_R4930H exm156190 1 228509430 [A/G] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_R5920H,Missense_R4963H,Missense_R4963H exm156191 1 228509475 [A/G] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_G5935D,Missense_G4978D,Missense_G4978D exm156194 1 228509555 [A/G] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_D5962N,Missense_D5005N,Missense_D5005N exm156196 1 228509579 [T/C] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_R5970W,Missense_R5013W,Missense_R5013W exm156198 1 228509588 [T/C] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_R5973W,Missense_R5016W,Missense_R5016W exm156200 1 228509598 [A/G] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_R5976H,Missense_R5019H,Missense_R5019H exm156201 1 228509610 [T/C] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_P5980L,Missense_P5023L,Missense_P5023L exm156205 1 228509681 [T/G] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_D6004Y,Missense_D5047Y,Missense_D5047Y exm156210 1 228509733 [T/C] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_A6021V,Missense_A5064V,Missense_A5064V exm156215 1 228509861 [T/C] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_P6064S,Missense_P5107S,Missense_P5107S exm156219 1 228511029 [T/C] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_A6082V,Missense_A5125V,Missense_A5125V exm156236 1 228520597 [T/C] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_T6187M,Missense_T5230M,Missense_T5230M exm156242 1 228520995 [A/G] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_R6233H,Missense_R5276H,Missense_R5276H exm156255 1 228522537 [T/C] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_P6327L,Missense_P5370L,Missense_P5370L exm156267 1 228522931 [T/C] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_T6403I,Missense_T5446I,Missense_T5446I exm156270 1 228523528 [T/C] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_A6438V,Missense_A5481V,Missense_A5481V exm156273 1 228523957 [T/G] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_G6465V,Missense_G5508V,Missense_G5508V exm156277 1 228524756 [T/C] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_V6487A,Missense_V5530A,Missense_V5530A exm156282 1 228525008 [A/G] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_R6532H,Missense_R5575H,Missense_R5575H exm156297 1 228525823 [T/C] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_A6617V,Missense_A5660V,Missense_A5660V exm156303 1 228526067 [T/G] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_R6650M,Missense_R5693M,Missense_R5693M exm156306 1 228526578 [T/A] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_S6660R,Missense_S5703R,Missense_S5703R exm156310 1 228526619 [A/G] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_S6674N,Missense_S5717N,Missense_S5717N exm156313 1 228526653 [A/C] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_H6685Q,Missense_H5728Q,Missense_H5728Q exm156320 1 228527675 [T/C] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_T6720M,Missense_T5763M,Missense_T5763M exm156323 1 228527749 [T/C] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_R6745C,Missense_R5788C,Missense_R5788C exm156325 1 228527758 [G/C] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_A6748P,Missense_A5791P,Missense_A5791P exm156343 1 228528530 [A/G] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_V6837M,Missense_V5880M,Missense_V5880M exm156344 1 228528549 [A/G] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_Y6843C,Missense_Y5886C,Missense_Y5886C exm156346 1 228528563 [G/C] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_Q6848E,Missense_Q5891E,Missense_Q5891E exm2250839 1 228528804 [T/C] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Synonymous_F6859F,Synonymous_F5902F,Synonymous_F5902F exm156390 1 228538568 [C/G] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_R7072G,Missense_R6115G,Missense_R6115G exm156392 1 228538598 [A/G] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_A7082T,Missense_A6125T,Missense_A6125T exm156393 1 228538635 [T/C] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_P7094L,Missense_P6137L,Missense_P6137L exm156398 1 228539044 [G/C] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Missense_L7105V,Missense_L6148V,Missense_L6148V exm2232698 1 228547773 [A/G] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Silent,Missense_V6394I,Silent exm156428 1 228547827 [C/G] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Silent,Missense_A6412P,Silent exm2250840 1 228547901 [T/C] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Silent,Synonymous_D6436D,Silent exm156446 1 228548112 [T/C] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Silent,Missense_P6507S,Silent exm156447 1 228548116 [A/C] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Silent,Missense_T6508K,Silent exm156457 1 228548197 [A/G] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Silent,Missense_R6535H,Silent exm156461 1 228548255 [C/G] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Silent,Missense_L6554F,Silent exm2232699 1 228548256 [T/C] NM_001271223,NM_052843,NM_001098623 OBSCN,OBSCN,OBSCN EXON Silent,Missense_R6555W,Silent exm156482 1 228550429 [T/C] NM_001271223,NM_001098623 OBSCN,OBSCN EXON Missense_P7229S,Missense_P6272S exm156504 1 228553826 [G/C] NM_001271223,NM_001098623 OBSCN,OBSCN EXON Missense_G7329A,Missense_G6372A exm156525 1 228554734 [A/G] NM_001271223,NM_001098623 OBSCN,OBSCN EXON Missense_A7453T,Missense_A6496T exm156530 1 228554800 [A/G] NM_001271223,NM_001098623 OBSCN,OBSCN EXON Missense_A7475T,Missense_A6518T exm156534 1 228554849 [G/C] NM_001271223,NM_001098623 OBSCN,OBSCN EXON Missense_R7491P,Missense_R6534P exm156550 1 228556505 [G/C] NM_001271223,NM_001098623 OBSCN,OBSCN EXON Missense_A7574G,Missense_A6617G exm156559 1 228557668 [A/G] NM_001271223,NM_001098623 OBSCN,OBSCN EXON Missense_G7622S,Missense_G6665S exm156563 1 228557697 [C/G] NM_001271223,NM_001098623 OBSCN,OBSCN EXON Missense_N7631K,Missense_N6674K exm156564 1 228557698 [A/G] NM_001271223,NM_001098623 OBSCN,OBSCN EXON Missense_V7632I,Missense_V6675I exm156567 1 228557710 [T/C] NM_001271223,NM_001098623 OBSCN,OBSCN EXON Missense_R7636C,Missense_R6679C exm156568 1 228557711 [A/G] NM_001271223,NM_001098623 OBSCN,OBSCN EXON Missense_R7636H,Missense_R6679H exm156575 1 228557755 [A/G] NM_001271223,NM_001098623 OBSCN,OBSCN EXON Missense_A7651T,Missense_A6694T exm156578 1 228557780 [T/G] NM_001271223,NM_001098623 OBSCN,OBSCN EXON Missense_L7659R,Missense_L6702R exm156588 1 228558398 [A/G] NM_001271223,NM_001098623 OBSCN,OBSCN EXON Missense_E7686K,Missense_E6729K exm156592 1 228558725 [A/G] NM_001271223,NM_001098623 OBSCN,OBSCN EXON Missense_R7706H,Missense_R6749H exm156606 1 228558892 [T/C] NM_001271223,NM_001098623 OBSCN,OBSCN EXON Missense_R7762W,Missense_R6805W exm156608 1 228558911 [A/C] NM_001271223,NM_001098623 OBSCN,OBSCN EXON Missense_P7768H,Missense_P6811H exm156612 1 228558959 [A/G] NM_001271223,NM_001098623 OBSCN,OBSCN EXON Missense_R7784Q,Missense_R6827Q exm2232703 1 228559076 [A/G] NM_001271223,NM_001098623 OBSCN,OBSCN EXON Missense_R7823Q,Missense_R6866Q exm156623 1 228559090 [T/C] NM_001271223,NM_001098623 OBSCN,OBSCN EXON Missense_R7828C,Missense_R6871C exm156627 1 228559225 [A/G] NM_001271223,NM_001098623 OBSCN,OBSCN EXON Missense_E7873K,Missense_E6916K exm156637 1 228559375 [T/C] NM_001271223,NM_001098623 OBSCN,OBSCN EXON Missense_H7923Y,Missense_H6966Y exm156646 1 228559450 [A/G] NM_001271223,NM_001098623 OBSCN,OBSCN EXON Missense_G7948R,Missense_G6991R exm156650 1 228559556 [A/G] NM_001271223,NM_001098623 OBSCN,OBSCN EXON Missense_S7983N,Missense_S7026N exm156653 1 228559642 [T/C] NM_001271223,NM_001098623 OBSCN,OBSCN EXON Missense_P8012S,Missense_P7055S exm156666 1 228559796 [G/C] NM_001271223,NM_001098623 OBSCN,OBSCN EXON Missense_P8063R,Missense_P7106R exm156674 1 228559933 [A/T] NM_001271223,NM_001098623 OBSCN,OBSCN EXON Missense_T8109S,Missense_T7152S exm156676 1 228559967 [T/C] NM_001271223,NM_001098623 OBSCN,OBSCN EXON Missense_P8120L,Missense_P7163L exm156678 1 228559994 [T/C] NM_001271223,NM_001098623 OBSCN,OBSCN EXON Missense_A8129V,Missense_A7172V exm156696 1 228560317 [A/G] NM_001271223,NM_001098623 OBSCN,OBSCN EXON Missense_V8237M,Missense_V7280M exm2232706 1 228560587 [T/G] NM_001271223,NM_001098623 OBSCN,OBSCN EXON Nonsense_E8327X,Nonsense_E7370X exm156717 1 228560648 [T/C] NM_001271223,NM_001098623 OBSCN,OBSCN EXON Missense_S8347F,Missense_S7390F exm156723 1 228560714 [T/C] NM_001271223,NM_001098623 OBSCN,OBSCN EXON Missense_L8369P,Missense_L7412P exm156725 1 228560747 [A/C] NM_001271223,NM_001098623 OBSCN,OBSCN EXON Missense_E8380A,Missense_E7423A exm156743 1 228562292 [T/C] NM_001271223,NM_001098623 OBSCN,OBSCN EXON Missense_A8458V,Missense_A7501V exm156744 1 228562300 [G/C] NM_001271223,NM_001098623 OBSCN,OBSCN EXON Missense_E8461Q,Missense_E7504Q exm156755 1 228563477 [A/G] NM_001271223,NM_001098623 OBSCN,OBSCN EXON Missense_V8537M,Missense_V7580M exm156762 1 228563799 [T/C] NM_001271223,NM_001098623 OBSCN,OBSCN EXON Missense_T8583M,Missense_T7626M exm156774 1 228564778 [T/C] NM_001271223,NM_001098623 OBSCN,OBSCN EXON Missense_C8646R,Missense_C7689R exm156780 1 228564884 [A/G] NM_001271223,NM_001098623 OBSCN,OBSCN EXON Missense_R8681H,Missense_R7724H exm156788 1 228565209 [A/G] NM_001271223,NM_001098623 OBSCN,OBSCN EXON Missense_E8724K,Missense_E7767K exm156796 1 228565329 [A/G] NM_001271223,NM_001098623 OBSCN,OBSCN EXON Missense_V8764I,Missense_V7807I exm156811 1 228566387 [A/G] NM_001271223,NM_001098623 OBSCN,OBSCN EXON Missense_R8888Q,Missense_R7933Q exm156816 1 228582431 [A/G] NM_145214 TRIM11 EXON Missense_S461F exm156845 1 228582935 [A/G] NM_145214 TRIM11 EXON Missense_P293L exm156853 1 228584659 [T/C] NM_145214 TRIM11 EXON Missense_R283Q exm156908 1 228596036 [T/C] NM_001024940,NM_016102 TRIM17,TRIM17 EXON Missense_V434I,Missense_V434I exm156919 1 228596116 [T/G] NM_001024940,NM_016102 TRIM17,TRIM17 EXON Missense_T407N,Missense_T407N exm156920 1 228596135 [A/G] NM_001024940,NM_016102 TRIM17,TRIM17 EXON Missense_S401P,Missense_S401P exm156945 1 228596779 [A/C] NM_001024940,NM_016102,NM_001134855 TRIM17,TRIM17,TRIM17 EXON Silent,Silent,Missense_G326V exm156948 1 228596811 [T/G] NM_001024940,NM_016102,NM_001134855 TRIM17,TRIM17,TRIM17 EXON Silent,Silent,Nonsense_Y315X exm156951 1 228596903 [T/C] NM_001024940,NM_016102,NM_001134855 TRIM17,TRIM17,TRIM17 EXON Missense_G285R,Missense_G285R,Missense_G285R exm156962 1 228598723 [T/C] NM_001024940,NM_016102,NM_001134855 TRIM17,TRIM17,TRIM17 EXON Missense_R227Q,Missense_R227Q,Missense_R227Q exm156971 1 228598861 [T/C] NM_001024940,NM_016102,NM_001134855 TRIM17,TRIM17,TRIM17 EXON Missense_R181Q,Missense_R181Q,Missense_R181Q exm156974 1 228601506 [T/C] NM_001024940,NM_016102,NM_001134855 TRIM17,TRIM17,TRIM17 EXON Missense_E173K,Missense_E173K,Missense_E173K exm156978 1 228602361 [A/G] NM_001024940,NM_016102,NM_001134855 TRIM17,TRIM17,TRIM17 EXON Missense_A138V,Missense_A138V,Missense_A138V exm156983 1 228602452 [C/G] NM_001024940,NM_016102,NM_001134855 TRIM17,TRIM17,TRIM17 EXON Missense_L108V,Missense_L108V,Missense_L108V exm156986 1 228602511 [T/C] NM_001024940,NM_016102,NM_001134855 TRIM17,TRIM17,TRIM17 EXON Missense_Q88R,Missense_Q88R,Missense_Q88R exm156990 1 228602563 [C/G] NM_001024940,NM_016102,NM_001134855 TRIM17,TRIM17,TRIM17 EXON Missense_Q71E,Missense_Q71E,Missense_Q71E exm1766381 1 228602665 [A/G] NM_001024940,NM_016102,NM_001134855 TRIM17,TRIM17,TRIM17 EXON Nonsense_R37X,Nonsense_R37X,Nonsense_R37X exm157000 1 228602686 [T/C] NM_001024940,NM_016102,NM_001134855 TRIM17,TRIM17,TRIM17 EXON Missense_T30A,Missense_T30A,Missense_T30A exm157007 1 228602816 [T/C] NM_001024940,NM_016102,NM_001134855 TRIM17,TRIM17,TRIM17 Silent,Silent,Silent exm157011 1 228612639 [A/G] NM_003493 HIST3H3 EXON Missense_R130C exm157028 1 228612818 [C/G] NM_003493 HIST3H3 EXON Missense_R70P exm157029 1 228612822 [A/G] NM_003493 HIST3H3 EXON Nonsense_Q69X exm1766395 1 228612823 [T/G] NM_003493 HIST3H3 EXON Missense_F68L exm1766396 1 228612824 [T/A] NM_003493 HIST3H3 EXON Missense_F68Y exm1766398 1 228612837 [A/G] NM_003493 HIST3H3 EXON Missense_R64C exm1766400 1 228612869 [T/C] NM_003493 HIST3H3 EXON Missense_R53H exm157049 1 228613005 [T/C] NM_003493 HIST3H3 EXON Missense_A8T exm157051 1 228613020 [A/G] NM_003493 HIST3H3 EXON Nonsense_R3X exm157053 1 228613025 [A/G] NM_003493 HIST3H3 EXON Missense_M1T exm157054 1 228613026 [T/C] NM_003493 HIST3H3 EXON Missense_M1V exm157086 1 228645859 [T/C] NM_175055 HIST3H2BB EXON Missense_A10V exm2250844 1 228660501 [A/C] exm157152 1 228879176 [A/G] NR_037962,NM_021205 RHOU,RHOU EXON Silent,Missense_I156V exm157156 1 228879260 [A/C] NR_037962,NM_021205 RHOU,RHOU EXON Silent,Missense_P184T exm157160 1 228879311 [A/G] NR_037962,NM_021205 RHOU,RHOU EXON Silent,Missense_I201V exm-rs801112 1 228996622 [T/C] exm-rs801114 1 228997835 [T/G] exm2250846 1 229355000 [T/C] exm157169 1 229424535 [T/G] NM_001271998,NR_073545,NM_004578 RAB4A,RAB4A,RAB4A EXON Silent,Silent,Missense_G58C exm1766611 1 229431647 [A/G] NM_001271998,NR_073545,NM_004578 RAB4A,RAB4A,RAB4A EXON Missense_M1I,Silent,Missense_D94N exm157182 1 229438621 [T/C] NM_001271998,NR_073545,NM_004578 RAB4A,RAB4A,RAB4A EXON Missense_P80L,Silent,Missense_P185L exm157183 1 229438654 [A/G] NM_001271998,NR_073545,NM_004578 RAB4A,RAB4A,RAB4A EXON Missense_D91G,Silent,Missense_D196G exm157189 1 229440900 [T/C] NM_001271998,NR_073545,NM_004578,NM_006542 RAB4A,RAB4A,RAB4A,SPHAR EXON Silent,Silent,Silent,Missense_S7P exm157191 1 229441002 [T/C] NM_001271998,NR_073545,NM_004578,NM_006542 RAB4A,RAB4A,RAB4A,SPHAR EXON Silent,Silent,Silent,Missense_L41F exm157205 1 229462604 [A/G] NM_145257 CCSAP EXON Missense_S173P exm157206 1 229462617 [T/G] NM_145257 CCSAP EXON Missense_K168N exm157207 1 229462625 [T/C] NM_145257 CCSAP EXON Missense_A166T exm157209 1 229462753 [A/G] NM_145257 CCSAP EXON Missense_A123V exm157251 1 229577717 [A/C] NM_018230 NUP133 EXON Missense_K1135N exm157262 1 229586272 [T/C] NM_018230 NUP133 EXON Synonymous_E1060E exm157266 1 229586352 [A/G] NM_018230 NUP133 EXON Synonymous_L1034L exm157269 1 229588273 [T/C] NM_018230 NUP133 EXON Missense_G1033D exm157274 1 229594003 [T/C] NM_018230 NUP133 EXON Missense_R962H exm157280 1 229596453 [A/G] NM_018230 NUP133 EXON Nonsense_Q917X exm157286 1 229599316 [A/G] NM_018230 NUP133 EXON Missense_R887C exm157288 1 229599340 [T/C] NM_018230 NUP133 EXON Missense_T879A exm157291 1 229599414 [T/C] NM_018230 NUP133 EXON Missense_G854D exm157300 1 229600562 [T/C] NM_018230 NUP133 EXON Missense_K787R exm2273753 1 229601256 [T/C] NM_018230 NUP133 EXON Missense_Q737R exm157305 1 229602488 [T/C] NM_018230 NUP133 EXON Missense_T698A exm157318 1 229613399 [T/G] NM_018230 NUP133 EXON Missense_D567E exm157325 1 229619888 [A/G] NM_018230 NUP133 EXON Missense_M502T exm157328 1 229622236 [A/G] NM_018230 NUP133 EXON Missense_P461L exm2273754 1 229623242 [G/C] NM_018230 NUP133 EXON Missense_P438R exm157332 1 229623338 [T/C] NM_018230 NUP133 EXON Missense_Q406R exm157333 1 229623339 [A/G] NM_018230 NUP133 EXON Nonsense_Q406X exm157334 1 229623359 [A/G] NM_018230 NUP133 EXON Missense_S399F exm157342 1 229631673 [T/C] NM_018230 NUP133 EXON Missense_R314K exm157343 1 229631734 [T/C] NM_018230 NUP133 EXON Missense_I294V exm157350 1 229633966 [C/G] NM_018230 NUP133 EXON Missense_P246A exm157351 1 229633970 [G/C] NM_018230 NUP133 EXON Missense_I244M exm157359 1 229635480 [A/G] NM_018230 NUP133 EXON Missense_F200S exm157360 1 229635484 [T/C] NM_018230 NUP133 EXON Missense_A199T exm1766781 1 229635512 [C/G] NM_018230 NUP133 EXON Missense_S189R exm2232717 1 229635559 [A/C] NM_018230 NUP133 EXON Missense_A174S exm157366 1 229636561 [T/C] NM_018230 NUP133 EXON Missense_S152N exm157373 1 229643815 [T/C] NM_018230 NUP133 EXON Missense_R61Q exm157383 1 229654053 [T/C] NM_012089 ABCB10 EXON Missense_N697S exm1766825 1 229663026 [A/G] NM_012089 ABCB10 EXON Missense_R559C exm157400 1 229665958 [T/C] NM_012089 ABCB10 EXON Missense_D545N exm2250849 1 229666018 [A/G] NM_012089 ABCB10 EXON Synonymous_L525L exm157410 1 229666108 [T/C] NM_012089 ABCB10 EXON Missense_K495E exm157411 1 229666150 [T/C] NM_012089 ABCB10 EXON Missense_V481I exm157412 1 229667384 [T/G] NM_012089 ABCB10 EXON Missense_N478K exm157413 1 229667404 [G/C] NM_012089 ABCB10 EXON Missense_E472Q exm157416 1 229667460 [A/G] NM_012089 ABCB10 EXON Missense_S453L exm157428 1 229678030 [T/C] NM_012089 ABCB10 EXON Missense_R337Q exm157459 1 229730109 [T/C] NM_014409 TAF5L EXON Missense_V569M exm2250850 1 229730131 [C/G] NM_014409 TAF5L EXON Synonymous_G561G exm157463 1 229730133 [T/C] NM_014409 TAF5L EXON Missense_G561R exm2250851 1 229730596 [A/G] NM_014409 TAF5L EXON Synonymous_R406R exm157487 1 229730660 [T/C] NM_014409 TAF5L EXON Missense_Y385C exm157489 1 229730691 [T/C] NM_014409 TAF5L EXON Missense_T375A exm2232721 1 229730775 [T/C] NM_014409 TAF5L EXON Missense_S347G exm157505 1 229738193 [T/C] NM_014409,NM_001025247 TAF5L,TAF5L EXON Missense_V241I,Missense_V241I exm157524 1 229738478 [T/C] NM_014409,NM_001025247 TAF5L,TAF5L EXON Missense_I146V,Missense_I146V exm157539 1 229750089 [T/C] NM_014409,NM_001025247 TAF5L,TAF5L EXON Synonymous_T47T,Synonymous_T47T exm157565 1 229771013 [T/C] NM_014777 URB2 EXON Missense_T218M exm1766938 1 229771201 [A/G] NM_014777 URB2 EXON Missense_V281M exm1766939 1 229771229 [A/G] NM_014777 URB2 EXON Missense_Y290C exm157585 1 229771608 [A/G] NM_014777 URB2 EXON Missense_I416M exm157593 1 229771763 [A/G] NM_014777 URB2 EXON Missense_R468Q exm1766945 1 229771835 [T/C] NM_014777 URB2 EXON Missense_S492L exm157611 1 229772082 [T/G] NM_014777 URB2 EXON Missense_R574S exm157613 1 229772088 [A/G] NM_014777 URB2 EXON Missense_M576I exm157614 1 229772107 [G/C] NM_014777 URB2 EXON Missense_L583V exm157617 1 229772137 [T/C] NM_014777 URB2 EXON Missense_P593S exm157618 1 229772141 [A/T] NM_014777 URB2 EXON Missense_E594V exm157625 1 229772285 [T/C] NM_014777 URB2 EXON Missense_S642L exm157627 1 229772302 [T/C] NM_014777 URB2 EXON Missense_L648F exm157628 1 229772315 [A/G] NM_014777 URB2 EXON Missense_K652R exm157633 1 229772476 [T/G] NM_014777 URB2 EXON Missense_F706V exm157636 1 229772519 [T/C] NM_014777 URB2 EXON Missense_T720M exm157640 1 229772630 [A/G] NM_014777 URB2 EXON Missense_D757G exm157641 1 229772693 [T/G] NM_014777 URB2 EXON Missense_V778G exm157647 1 229772899 [A/C] NM_014777 URB2 EXON Missense_M847L exm157648 1 229772932 [A/G] NM_014777 URB2 EXON Missense_K858E exm157651 1 229773098 [A/G] NM_014777 URB2 EXON Missense_Y913C exm157676 1 229773691 [T/C] NM_014777 URB2 EXON Missense_R1111C exm157677 1 229773692 [A/G] NM_014777 URB2 EXON Missense_R1111H exm157679 1 229773733 [A/G] NM_014777 URB2 EXON Missense_E1125K exm157681 1 229773760 [A/G] NM_014777 URB2 EXON Missense_D1134N exm157701 1 229783267 [T/G] NM_014777 URB2 EXON Missense_R1306L exm157703 1 229783308 [A/G] NM_014777 URB2 EXON Missense_G1320R exm157708 1 229783362 [A/G] NM_014777 URB2 EXON Missense_G1338S exm157722 1 229787030 [A/G] NM_014777 URB2 EXON Missense_V1400M exm157724 1 229787055 [A/G] NM_014777 URB2 EXON Missense_R1408Q exm157732 1 229790071 [A/G] NM_014777 URB2 EXON Missense_R1438Q exm157734 1 229790077 [A/C] NM_014777 URB2 EXON Missense_E1440A exm157738 1 229794937 [T/C] NM_014777 URB2 EXON Missense_R1490W exm157740 1 229794944 [T/C] NM_014777 URB2 EXON Missense_S1492L exm-rs603991 1 229956480 [T/C] exm2268980 1 230199398 [T/C] exm-rs2144300 1 230294916 [T/C] NM_004481 GALNT2 Silent exm-rs4846914 1 230295691 [A/G] NM_004481 GALNT2 Silent exm-rs10489615 1 230304988 [A/G] NM_004481 GALNT2 Silent exm157750 1 230314016 [A/G] NM_004481 GALNT2 EXON Missense_N60S exm157752 1 230338909 [G/C] NM_004481 GALNT2 EXON Missense_Q83E exm-rs12033321 1 230365641 [A/G] NM_004481 GALNT2 Silent exm157769 1 230372099 [T/C] NM_004481 GALNT2 EXON Synonymous_S158S exm157771 1 230372116 [C/G] NM_004481 GALNT2 EXON Missense_P164R exm157775 1 230379078 [A/G] NM_004481 GALNT2 EXON Missense_A212T exm157777 1 230379092 [A/T] NM_004481 GALNT2 EXON Missense_Q216H exm157781 1 230381895 [T/C] NM_004481 GALNT2 EXON Synonymous_G272G exm157807 1 230401006 [A/G] NM_004481 GALNT2 EXON Missense_I445V exm157826 1 230415064 [A/G] NM_004481 GALNT2 EXON Missense_E526K exm157828 1 230415088 [A/G] NM_004481 GALNT2 EXON Missense_V534M exm157829 1 230415148 [A/G] NM_004481 GALNT2 EXON Missense_V554M exm157832 1 230415199 [T/C] NM_004481 GALNT2 EXON Nonsense_Q571X exm157841 1 230459181 [A/G] NM_001258311 PGBD5 EXON Missense_P522L exm2232730 1 230459307 [T/C] NM_001258311 PGBD5 EXON Missense_S480N exm2250857 1 230469505 [A/G] NM_001258311 PGBD5 Silent exm157882 1 230492801 [T/C] NM_001258311 PGBD5 EXON Missense_A200T exm157890 1 230492879 [T/C] NM_001258311 PGBD5 EXON Missense_M174V exm157893 1 230492935 [T/C] NM_001258311 PGBD5 EXON Missense_S155N exm157930 1 230513322 [T/C] NM_001258311 PGBD5 Silent exm157936 1 230513337 [T/C] NM_001258311 PGBD5 Silent exm-rs6671466 1 230656763 [T/G] exm2250860 1 230795320 [T/C] NM_007357,NM_001145036 COG2,COG2 EXON Synonymous_V61V,Synonymous_V61V exm157951 1 230795355 [A/G] NM_007357,NM_001145036 COG2,COG2 EXON Missense_N73S,Missense_N73S exm157961 1 230798959 [A/G] NM_007357,NM_001145036 COG2,COG2 EXON Missense_K125E,Missense_K125E exm157964 1 230800231 [T/C] NM_007357,NM_001145036 COG2,COG2 EXON Missense_M128T,Missense_M128T exm157966 1 230800250 [A/G] NM_007357,NM_001145036 COG2,COG2 EXON Missense_I134M,Missense_I134M exm157971 1 230800321 [T/A] NM_007357,NM_001145036 COG2,COG2 EXON Missense_L158Q,Missense_L158Q exm157988 1 230805279 [A/G] NM_007357,NM_001145036 COG2,COG2 EXON Missense_E258K,Missense_E258K exm157992 1 230807296 [A/G] NM_007357,NM_001145036 COG2,COG2 EXON Missense_N270S,Missense_N270S exm1767202 1 230807353 [T/G] NM_007357,NM_001145036 COG2,COG2 EXON Missense_L289R,Missense_L289R exm157996 1 230810756 [A/T] NM_007357,NM_001145036 COG2,COG2 EXON Missense_N304K,Missense_N304K exm158000 1 230814668 [A/G] NM_007357,NM_001145036 COG2,COG2 EXON Missense_I346V,Missense_I346V exm158001 1 230814698 [T/C] NM_007357,NM_001145036 COG2,COG2 EXON Missense_R356W,Missense_R356W exm158013 1 230822687 [T/C] NM_007357,NM_001145036 COG2,COG2 EXON Missense_L463F,Missense_L463F exm158018 1 230822828 [T/C] NM_007357,NM_001145036 COG2,COG2 EXON Missense_R510C,Missense_R510C exm158020 1 230822832 [G/C] NM_007357,NM_001145036 COG2,COG2 EXON Missense_T511S,Missense_T511S exm158023 1 230823839 [A/T] NM_007357,NM_001145036 COG2,COG2 EXON Missense_I534N,Missense_I534N exm158033 1 230824279 [A/G] NM_007357,NM_001145036 COG2,COG2 EXON Missense_V589I,Missense_V588I exm158041 1 230827150 [A/G] NM_007357,NM_001145036 COG2,COG2 EXON Missense_D652G,Missense_D651G exm2232732 1 230827152 [A/G] NM_007357,NM_001145036 COG2,COG2 EXON Missense_V653I,Missense_V652I exm158044 1 230827221 [A/G] NM_007357,NM_001145036 COG2,COG2 EXON Missense_A676T,Missense_A675T exm158047 1 230827305 [A/G] NM_007357,NM_001145036 COG2,COG2 EXON Missense_E704K,Missense_E703K exm158058 1 230838903 [A/G] NM_000029 AGT EXON Missense_P481L exm158065 1 230839020 [A/G] NM_000029 AGT EXON Missense_S442F exm158066 1 230839044 [A/G] NM_000029 AGT EXON Missense_A434V exm158072 1 230840016 [A/G] NM_000029 AGT EXON Nonsense_Q398X exm158073 1 230840034 [T/G] NM_000029 AGT EXON Missense_L392M exm158074 1 230840054 [A/G] NM_000029 AGT EXON Missense_V385A exm158078 1 230841680 [A/G] NM_000029 AGT EXON Missense_R375W exm158080 1 230841749 [T/C] NM_000029 AGT EXON Missense_D352N exm158086 1 230841824 [C/G] NM_000029 AGT EXON Missense_D327H exm1767281 1 230841875 [C/G] NM_000029 AGT EXON Missense_V310L exm158089 1 230841914 [A/G] NM_000029 AGT EXON Missense_P297S exm158091 1 230841917 [T/C] NM_000029 AGT EXON Missense_E296K exm158095 1 230845755 [T/C] NM_000029 AGT EXON Missense_Y281C exm158099 1 230845794 [A/G] NM_000029 AGT EXON Missense_M268T exm158101 1 230845807 [T/C] NM_000029 AGT EXON Missense_G264S exm158104 1 230845866 [A/C] NM_000029 AGT EXON Missense_L244R exm158115 1 230845977 [A/G] NM_000029 AGT EXON Missense_T207M exm158121 1 230846145 [A/C] NM_000029 AGT EXON Missense_L151W exm158123 1 230846185 [A/C] NM_000029 AGT EXON Missense_A138S exm158124 1 230846187 [A/G] NM_000029 AGT EXON Missense_T137M exm158125 1 230846188 [T/C] NM_000029 AGT EXON Missense_T137A exm158130 1 230846305 [T/C] NM_000029 AGT EXON Missense_E98K exm158134 1 230846349 [A/G] NM_000029 AGT EXON Missense_A83V exm158136 1 230846385 [A/G] NM_000029 AGT EXON Missense_P71L exm158139 1 230846446 [A/G] NM_000029 AGT EXON Missense_C51R exm158140 1 230846449 [T/A] NM_000029 AGT EXON Missense_T50S exm158143 1 230846470 [A/G] NM_000029 AGT EXON Missense_L43F exm158147 1 230846586 [C/G] NM_000029 AGT EXON Missense_R4P exm1767336 1 230883283 [T/C] NM_006615,NM_016452 CAPN9,CAPN9 EXON Missense_P14L,Missense_P14L exm158150 1 230883294 [A/G] NM_006615,NM_016452 CAPN9,CAPN9 EXON Missense_D18N,Missense_D18N exm2275551 1 230883297 [A/G] NM_006615,NM_016452 CAPN9,CAPN9 EXON Missense_A19T,Missense_A19T exm158155 1 230891082 [A/G] NM_006615,NM_016452 CAPN9,CAPN9 Silent,Silent exm158158 1 230891114 [A/G] NM_006615,NM_016452 CAPN9,CAPN9 EXON Missense_G82E,Missense_G82E exm158162 1 230895257 [C/G] NM_006615,NM_016452 CAPN9,CAPN9 Silent,Silent exm158168 1 230895284 [A/G] NM_006615,NM_016452 CAPN9,CAPN9 EXON Missense_A104T,Missense_A104T exm158172 1 230895340 [A/C] NM_006615,NM_016452 CAPN9,CAPN9 EXON Missense_S122R,Missense_S122R exm158175 1 230895365 [A/T] NM_006615,NM_016452 CAPN9,CAPN9 EXON Missense_F131I,Missense_F131I exm158176 1 230898397 [A/G] NM_006615,NM_016452 CAPN9,CAPN9 Silent,Silent exm158179 1 230898462 [A/C] NM_006615,NM_016452 CAPN9,CAPN9 EXON Missense_R156S,Missense_R156S exm158181 1 230898486 [A/G] NM_006615,NM_016452 CAPN9,CAPN9 EXON Missense_D164N,Missense_D164N exm2250863 1 230903350 [T/C] NM_006615,NM_016452 CAPN9,CAPN9 EXON Synonymous_T200T,Synonymous_T200T exm158196 1 230903451 [T/C] NM_006615,NM_016452 CAPN9,CAPN9 EXON Missense_I234T,Missense_I234T exm158198 1 230904935 [A/G] NM_006615,NM_016452 CAPN9,CAPN9 EXON Missense_A239T,Missense_A239T exm158201 1 230904960 [T/C] NM_006615,NM_016452 CAPN9,CAPN9 EXON Missense_P247L,Missense_P247L exm158203 1 230904972 [T/C] NM_006615,NM_016452 CAPN9,CAPN9 EXON Missense_I251T,Missense_I251T exm158204 1 230904981 [A/G] NM_006615,NM_016452 CAPN9,CAPN9 EXON Missense_H254R,Missense_H254R exm158207 1 230907783 [T/C] NM_006615,NM_016452 CAPN9,CAPN9 EXON Synonymous_I271I,Synonymous_I271I exm2250864 1 230907783 [T/C] NM_006615,NM_016452 CAPN9,CAPN9 EXON Synonymous_I271I,Synonymous_I271I exm158209 1 230907799 [T/C] NM_006615,NM_016452 CAPN9,CAPN9 EXON Missense_R277W,Missense_R277W exm158214 1 230907829 [A/G] NM_006615,NM_016452 CAPN9,CAPN9 EXON Missense_G287R,Missense_G287R exm158224 1 230914729 [A/C] NM_006615,NM_016452 CAPN9,CAPN9 EXON Missense_K322Q,Missense_K296Q exm158225 1 230914746 [A/C] NM_006615,NM_016452 CAPN9,CAPN9 EXON Missense_H327Q,Missense_H301Q exm158227 1 230914769 [A/G] NM_006615,NM_016452 CAPN9,CAPN9 EXON Missense_N335S,Missense_N309S exm158229 1 230914789 [A/G] NM_006615,NM_016452 CAPN9,CAPN9 EXON Missense_E342K,Missense_E316K exm158230 1 230914798 [A/G] NM_006615,NM_016452 CAPN9,CAPN9 EXON Missense_A345T,Missense_A319T exm158232 1 230914820 [T/C] NM_006615,NM_016452 CAPN9,CAPN9 EXON Missense_T352M,Missense_T326M exm158237 1 230914867 [T/C] NM_006615,NM_016452 CAPN9,CAPN9 EXON Missense_R368C,Missense_R342C exm158238 1 230914868 [T/G] NM_006615,NM_016452 CAPN9,CAPN9 EXON Missense_R368L,Missense_R342L exm158242 1 230915984 [T/G] NM_006615,NM_016452 CAPN9,CAPN9 EXON Nonsense_E392X,Nonsense_E366X exm158243 1 230915993 [A/G] NM_006615,NM_016452 CAPN9,CAPN9 EXON Missense_S395G,Missense_S369G exm158247 1 230916057 [T/G] NM_006615,NM_016452 CAPN9,CAPN9 EXON Missense_L416R,Missense_L390R exm158253 1 230916345 [T/C] NM_006615,NM_016452 CAPN9,CAPN9 EXON Missense_R458W,Missense_R432W exm158256 1 230916409 [T/C] NM_006615,NM_016452 CAPN9,CAPN9 EXON Missense_A479V,Missense_A453V exm158265 1 230923313 [T/C] NM_006615,NM_016452 CAPN9,CAPN9 EXON Missense_R522W,Missense_R496W exm158266 1 230923323 [A/C] NM_006615,NM_016452 CAPN9,CAPN9 EXON Missense_A525D,Missense_A499D exm158271 1 230925937 [T/G] NM_006615,NM_016452 CAPN9,CAPN9 Silent,Silent exm158274 1 230927671 [A/G] NM_006615,NM_016452 CAPN9,CAPN9 EXON Missense_M573I,Missense_M547I exm158275 1 230927675 [A/G] NM_006615,NM_016452 CAPN9,CAPN9 Silent,Silent exm158278 1 230928193 [A/G] NM_006615,NM_016452 CAPN9,CAPN9 EXON Missense_E582K,Missense_E556K exm158286 1 230928637 [A/G] NM_006615,NM_016452 CAPN9,CAPN9 EXON Missense_M611I,Missense_M585I exm158293 1 230930967 [T/G] NM_006615,NM_016452 CAPN9,CAPN9 EXON Missense_E643D,Missense_E617D exm158298 1 230931020 [C/G] NM_006615,NM_016452 CAPN9,CAPN9 EXON Missense_A661G,Missense_A635G exm158300 1 230931025 [T/C] NM_006615,NM_016452 CAPN9,CAPN9 EXON Missense_R663W,Missense_R637W exm158301 1 230931026 [A/G] NM_006615,NM_016452 CAPN9,CAPN9 Silent,Silent exm158313 1 230979100 [T/C] NM_001136494,NM_032800,NM_001136495 C1orf198,C1orf198,C1orf198 EXON Synonymous_Q271Q,Synonymous_Q309Q,Synonymous_Q179Q exm158318 1 230979207 [A/C] NM_001136494,NM_032800,NM_001136495 C1orf198,C1orf198,C1orf198 EXON Missense_A236S,Missense_A274S,Missense_A144S exm158328 1 230979415 [A/C] NM_001136494,NM_032800,NM_001136495 C1orf198,C1orf198,C1orf198 EXON Missense_E166D,Missense_E204D,Missense_E74D exm158330 1 230979494 [A/G] NM_001136494,NM_032800,NM_001136495 C1orf198,C1orf198,C1orf198 EXON Missense_A140V,Missense_A178V,Missense_A48V exm158332 1 230979511 [A/C] NM_001136494,NM_032800,NM_001136495 C1orf198,C1orf198,C1orf198 EXON Missense_R134S,Missense_R172S,Missense_R42S exm158335 1 230979560 [A/G] NM_001136494,NM_032800,NM_001136495 C1orf198,C1orf198,C1orf198 EXON Missense_S118F,Missense_S156F,Missense_S26F exm158360 1 231004221 [A/G] NM_001136494,NM_032800 C1orf198,C1orf198 EXON Silent,Missense_S13L exm158362 1 231042661 [T/G] NM_001122835,NM_024525 TTC13,TTC13 EXON Missense_K804T,Missense_K858T exm158367 1 231042715 [A/G] NM_001122835,NM_024525 TTC13,TTC13 EXON Missense_T786M,Missense_T840M exm1767457 1 231048479 [T/C] NM_001122835,NM_024525 TTC13,TTC13 EXON Missense_E653K,Missense_E707K exm158381 1 231052032 [A/G] NM_001122835,NM_024525 TTC13,TTC13 EXON Missense_T613M,Missense_T667M exm158386 1 231056266 [A/G] NM_001122835,NM_024525 TTC13,TTC13 EXON Missense_P605L,Missense_P658L exm158387 1 231056308 [T/C] NM_001122835,NM_024525 TTC13,TTC13 EXON Missense_R591Q,Missense_R644Q exm158394 1 231059629 [C/G] NM_001122835,NM_024525 TTC13,TTC13 EXON Missense_R538P,Missense_R591P exm158398 1 231060678 [A/G] NM_001122835,NM_024525 TTC13,TTC13 EXON Missense_R491C,Missense_R544C exm158401 1 231061277 [T/C] NM_001122835,NM_024525 TTC13,TTC13 EXON Missense_K472R,Missense_K525R exm158402 1 231061376 [T/C] NM_001122835,NM_024525 TTC13,TTC13 EXON Missense_N439S,Missense_N492S exm1767489 1 231079622 [C/G] NM_001122835,NM_024525 TTC13,TTC13 EXON Silent,Missense_A201G exm158447 1 231114913 [T/C] NM_022786 ARV1 EXON Missense_A21V exm158448 1 231114915 [T/A] NM_022786 ARV1 EXON Missense_T22S exm158450 1 231114924 [T/G] NM_022786 ARV1 EXON Missense_A25S exm158452 1 231114945 [T/C] NM_022786 ARV1 EXON Missense_Y32H exm158457 1 231124174 [A/C] NM_022786 ARV1 EXON Missense_T95P exm158459 1 231125863 [A/G] NM_022786 ARV1 EXON Missense_G101E exm158461 1 231125910 [T/C] NM_022786 ARV1 EXON Missense_W117R exm158470 1 231131713 [A/C] NM_022786 ARV1 EXON Missense_N219T exm158476 1 231133014 [A/G] NM_022786 ARV1 Silent exm158480 1 231155616 [A/G] NM_198552,NR_031593 FAM89A,MIR1182 EXON Missense_S183F,Silent exm158485 1 231155682 [T/C] NM_198552 FAM89A EXON Missense_R161Q exm158486 1 231155683 [A/G] NM_198552 FAM89A EXON Nonsense_R161X exm158491 1 231155784 [C/G] NM_198552 FAM89A EXON Missense_A127G exm158494 1 231155818 [C/G] NM_198552 FAM89A EXON Missense_E116Q exm2268843 1 231262876 [T/C] exm2260036 1 231326086 [A/G] NM_001004342 TRIM67 Silent exm158551 1 231335934 [A/G] NM_001004342 TRIM67 EXON Missense_R435H exm158559 1 231339621 [A/G] NM_001004342 TRIM67 EXON Missense_V515I exm158570 1 231339726 [G/C] NM_001004342 TRIM67 EXON Missense_E550Q exm158571 1 231339744 [A/G] NM_001004342 TRIM67 EXON Missense_G556R exm158589 1 231344908 [A/G] NM_001004342 TRIM67 EXON Missense_M679V exm158625 1 231362795 [T/C] NM_152379 C1orf131 EXON Missense_R177Q exm158629 1 231364919 [T/C] NM_152379 C1orf131 EXON Missense_T163A exm158641 1 231374784 [A/G] NM_152379 C1orf131 EXON Missense_F90S exm158642 1 231374798 [G/C] NM_152379 C1orf131 EXON Missense_K85N exm158643 1 231374823 [T/C] NM_152379 C1orf131 EXON Missense_G77D exm158644 1 231374856 [A/G] NM_152379 C1orf131 EXON Missense_A66V exm158647 1 231376793 [A/G] NM_152379 C1orf131 EXON Missense_L32P exm158648 1 231376806 [C/G] NM_152379 C1orf131 EXON Missense_L28V exm158657 1 231377150 [T/C] NM_014236 GNPAT EXON Missense_S9F exm158660 1 231377189 [T/C] NM_014236 GNPAT EXON Missense_V22A exm158666 1 231396277 [T/G] NM_014236 GNPAT EXON Missense_V96L exm158678 1 231401099 [A/G] NM_014236 GNPAT EXON Missense_R210Q exm158695 1 231402141 [A/G] NM_014236 GNPAT EXON Missense_N348S exm158697 1 231403438 [G/C] NM_014236 GNPAT EXON Missense_Q356H exm158698 1 231403442 [A/C] NM_014236 GNPAT EXON Missense_Q358K exm158715 1 231406707 [A/G] NM_014236 GNPAT EXON Missense_V495I exm158721 1 231408091 [A/G] NM_014236 GNPAT EXON Missense_D519G exm158725 1 231410968 [T/A] NM_014236 GNPAT EXON Missense_I582K exm158727 1 231411060 [A/G] NM_014236 GNPAT EXON Missense_D613N exm158729 1 231411199 [T/C] NM_014236 GNPAT EXON Missense_A631V exm158732 1 231411911 [A/C] NM_014236 GNPAT EXON Missense_E656D exm158736 1 231413267 [A/C] NM_014236 GNPAT EXON Missense_K674N exm158744 1 231471540 [A/G] NM_175876 EXOC8 EXON Missense_I651T exm158748 1 231471673 [C/G] NM_175876 EXOC8 EXON Missense_D607H exm158773 1 231472291 [C/G] NM_175876 EXOC8 EXON Missense_D401H exm158779 1 231472519 [T/C] NM_175876 EXOC8 EXON Missense_V325I exm158780 1 231472520 [A/C] NM_175876 EXOC8 EXON Missense_E324D exm158781 1 231472537 [G/C] NM_175876 EXOC8 EXON Missense_E319Q exm158815 1 231473415 [A/G] NM_175876 EXOC8 EXON Missense_L26P exm158823 1 231474181 [G/C] NM_001010984,NM_001261462,NM_032018 SPRTN,SPRTN,SPRTN EXON Missense_Q18E,Missense_Q18E,Missense_Q18E exm158841 1 231483670 [T/C] NM_001010984,NM_001261462,NM_032018 SPRTN,SPRTN,SPRTN EXON Missense_T150M,Silent,Missense_T150M exm158859 1 231488403 [A/G] NM_001010984,NM_001261462,NM_032018 SPRTN,SPRTN,SPRTN EXON Silent,Silent,Missense_K256E exm158869 1 231488524 [T/C] NM_001010984,NM_001261462,NM_032018 SPRTN,SPRTN,SPRTN EXON Silent,Silent,Missense_P296L exm1767831 1 231488541 [A/G] NM_001010984,NM_001261462,NM_032018 SPRTN,SPRTN,SPRTN EXON Silent,Silent,Missense_V302M exm158885 1 231488952 [A/T] NM_001010984,NM_001261462,NM_032018 SPRTN,SPRTN,SPRTN EXON Silent,Silent,Missense_T439S exm1767836 1 231489081 [A/G] NM_001010984,NM_001261462,NM_032018 SPRTN,SPRTN,SPRTN EXON Silent,Silent,Missense_K482E exm158891 1 231502179 [A/G] NM_022051 EGLN1 EXON Missense_S420L exm158910 1 231557060 [T/C] NM_022051 EGLN1 EXON Missense_K192R exm158915 1 231557164 [G/C] NM_022051 EGLN1 EXON Missense_Q157H exm158930 1 231665015 [A/G] NR_028399,NR_028394,NR_028393,NR_028400,NM_005999,NR_028397,NR_028395,NR_028396,NR_028398 TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1 EXON Silent,Silent,Silent,Silent,Missense_R11G,Silent,Silent,Silent,Silent exm158931 1 231665034 [A/G] NR_028399,NR_028394,NR_028393,NR_028400,NM_005999,NR_028397,NR_028395,NR_028396,NR_028398 TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1 EXON Silent,Silent,Silent,Silent,Missense_N17S,Silent,Silent,Silent,Silent exm-rs12042938 1 231816842 [T/C] NR_028399,NR_028394,NR_028393,NR_028400,NR_028397,NR_028395,NR_028396,NR_028398,NM_001164547,NM_001164541,NM_001164553,NM_001164542,NM_001164544,NM_001164537,NM_001164539,NM_001164546,NM_001164554,NM_001012957,NM_001164545,NM_001164556,NM_001164540,NM_001012959,NM_001164548,NM_001164549,NM_001012958,NM_001164550,NM_001164551,NM_001164552,NM_018662,NM_001164555,NM_001164538 TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm158955 1 231829578 [A/G] NR_028399,NR_028394,NR_028393,NR_028400,NR_028397,NR_028395,NR_028396,NR_028398,NM_001164547,NM_001164541,NM_001164553,NM_001164542,NM_001164544,NM_001164537,NM_001164539,NM_001164546,NM_001164554,NM_001012957,NM_001164545,NM_001164556,NM_001164540,NM_001012959,NM_001164548,NM_001164549,NM_001012958,NM_001164550,NM_001164551,NM_001164552,NM_018662,NM_001164555,NM_001164538 TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_R25Q,Missense_R25Q,Missense_R25Q,Missense_R25Q,Missense_R25Q,Missense_R25Q,Missense_R25Q,Missense_R25Q,Missense_R25Q,Missense_R25Q,Missense_R25Q,Silent,Missense_R25Q,Missense_R25Q,Missense_R25Q,Missense_R25Q,Missense_R25Q,Missense_R25Q,Missense_R25Q,Missense_R25Q,Missense_R25Q,Missense_R25Q,Missense_R25Q exm158958 1 231829616 [T/C] NR_028399,NR_028394,NR_028393,NR_028400,NR_028397,NR_028395,NR_028396,NR_028398,NM_001164547,NM_001164541,NM_001164553,NM_001164542,NM_001164544,NM_001164537,NM_001164539,NM_001164546,NM_001164554,NM_001012957,NM_001164545,NM_001164556,NM_001164540,NM_001012959,NM_001164548,NM_001164549,NM_001012958,NM_001164550,NM_001164551,NM_001164552,NM_018662,NM_001164555,NM_001164538 TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_R38W,Missense_R38W,Missense_R38W,Missense_R38W,Missense_R38W,Missense_R38W,Missense_R38W,Missense_R38W,Missense_R38W,Missense_R38W,Missense_R38W,Silent,Missense_R38W,Missense_R38W,Missense_R38W,Missense_R38W,Missense_R38W,Missense_R38W,Missense_R38W,Missense_R38W,Missense_R38W,Missense_R38W,Missense_R38W exm158962 1 231829700 [T/C] NR_028399,NR_028394,NR_028393,NR_028400,NR_028397,NR_028395,NR_028396,NR_028398,NM_001164547,NM_001164541,NM_001164553,NM_001164542,NM_001164544,NM_001164537,NM_001164539,NM_001164546,NM_001164554,NM_001012957,NM_001164545,NM_001164556,NM_001164540,NM_001012959,NM_001164548,NM_001164549,NM_001012958,NM_001164550,NM_001164551,NM_001164552,NM_018662,NM_001164555,NM_001164538 TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_R66W,Missense_R66W,Missense_R66W,Missense_R66W,Missense_R66W,Missense_R66W,Missense_R66W,Missense_R66W,Missense_R66W,Missense_R66W,Missense_R66W,Silent,Missense_R66W,Missense_R66W,Missense_R66W,Missense_R66W,Missense_R66W,Missense_R66W,Missense_R66W,Missense_R66W,Missense_R66W,Missense_R66W,Missense_R66W exm158963 1 231829715 [T/G] NR_028399,NR_028394,NR_028393,NR_028400,NR_028397,NR_028395,NR_028396,NR_028398,NM_001164547,NM_001164541,NM_001164553,NM_001164542,NM_001164544,NM_001164537,NM_001164539,NM_001164546,NM_001164554,NM_001012957,NM_001164545,NM_001164556,NM_001164540,NM_001012959,NM_001164548,NM_001164549,NM_001012958,NM_001164550,NM_001164551,NM_001164552,NM_018662,NM_001164555,NM_001164538 TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_V71L,Missense_V71L,Missense_V71L,Missense_V71L,Missense_V71L,Missense_V71L,Missense_V71L,Missense_V71L,Missense_V71L,Missense_V71L,Missense_V71L,Silent,Missense_V71L,Missense_V71L,Missense_V71L,Missense_V71L,Missense_V71L,Missense_V71L,Missense_V71L,Missense_V71L,Missense_V71L,Missense_V71L,Missense_V71L exm158964 1 231829740 [T/C] NR_028399,NR_028394,NR_028393,NR_028400,NR_028397,NR_028395,NR_028396,NR_028398,NM_001164547,NM_001164541,NM_001164553,NM_001164542,NM_001164544,NM_001164537,NM_001164539,NM_001164546,NM_001164554,NM_001012957,NM_001164545,NM_001164556,NM_001164540,NM_001012959,NM_001164548,NM_001164549,NM_001012958,NM_001164550,NM_001164551,NM_001164552,NM_018662,NM_001164555,NM_001164538 TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_S79L,Missense_S79L,Missense_S79L,Missense_S79L,Missense_S79L,Missense_S79L,Missense_S79L,Missense_S79L,Missense_S79L,Missense_S79L,Missense_S79L,Silent,Missense_S79L,Missense_S79L,Missense_S79L,Missense_S79L,Missense_S79L,Missense_S79L,Missense_S79L,Missense_S79L,Missense_S79L,Missense_S79L,Missense_S79L exm158966 1 231829752 [T/C] NR_028399,NR_028394,NR_028393,NR_028400,NR_028397,NR_028395,NR_028396,NR_028398,NM_001164547,NM_001164541,NM_001164553,NM_001164542,NM_001164544,NM_001164537,NM_001164539,NM_001164546,NM_001164554,NM_001012957,NM_001164545,NM_001164556,NM_001164540,NM_001012959,NM_001164548,NM_001164549,NM_001012958,NM_001164550,NM_001164551,NM_001164552,NM_018662,NM_001164555,NM_001164538 TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_A83V,Missense_A83V,Missense_A83V,Missense_A83V,Missense_A83V,Missense_A83V,Missense_A83V,Missense_A83V,Missense_A83V,Missense_A83V,Missense_A83V,Silent,Missense_A83V,Missense_A83V,Missense_A83V,Missense_A83V,Missense_A83V,Missense_A83V,Missense_A83V,Missense_A83V,Missense_A83V,Missense_A83V,Missense_A83V exm158973 1 231829851 [T/C] NR_028399,NR_028394,NR_028393,NR_028400,NR_028397,NR_028395,NR_028396,NR_028398,NM_001164547,NM_001164541,NM_001164553,NM_001164542,NM_001164544,NM_001164537,NM_001164539,NM_001164546,NM_001164554,NM_001012957,NM_001164545,NM_001164556,NM_001164540,NM_001012959,NM_001164548,NM_001164549,NM_001012958,NM_001164550,NM_001164551,NM_001164552,NM_018662,NM_001164555,NM_001164538 TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_A116V,Missense_A116V,Missense_A116V,Missense_A116V,Missense_A116V,Missense_A116V,Missense_A116V,Missense_A116V,Missense_A116V,Missense_A116V,Missense_A116V,Silent,Missense_A116V,Missense_A116V,Missense_A116V,Missense_A116V,Missense_A116V,Missense_A116V,Missense_A116V,Missense_A116V,Missense_A116V,Missense_A116V,Missense_A116V exm158980 1 231829983 [T/G] NR_028399,NR_028394,NR_028393,NR_028400,NR_028397,NR_028395,NR_028396,NR_028398,NM_001164547,NM_001164541,NM_001164553,NM_001164542,NM_001164544,NM_001164537,NM_001164539,NM_001164546,NM_001164554,NM_001012957,NM_001164545,NM_001164556,NM_001164540,NM_001012959,NM_001164548,NM_001164549,NM_001012958,NM_001164550,NM_001164551,NM_001164552,NM_018662,NM_001164555,NM_001164538 TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_W160L,Missense_W160L,Missense_W160L,Missense_W160L,Missense_W160L,Missense_W160L,Missense_W160L,Missense_W160L,Missense_W160L,Missense_W160L,Missense_W160L,Silent,Missense_W160L,Missense_W160L,Missense_W160L,Missense_W160L,Missense_W160L,Missense_W160L,Missense_W160L,Missense_W160L,Missense_W160L,Missense_W160L,Missense_W160L exm1767961 1 231830012 [T/C] NR_028399,NR_028394,NR_028393,NR_028400,NR_028397,NR_028395,NR_028396,NR_028398,NM_001164547,NM_001164541,NM_001164553,NM_001164542,NM_001164544,NM_001164537,NM_001164539,NM_001164546,NM_001164554,NM_001012957,NM_001164545,NM_001164556,NM_001164540,NM_001012959,NM_001164548,NM_001164549,NM_001012958,NM_001164550,NM_001164551,NM_001164552,NM_018662,NM_001164555,NM_001164538 TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_R170C,Missense_R170C,Missense_R170C,Missense_R170C,Missense_R170C,Missense_R170C,Missense_R170C,Missense_R170C,Missense_R170C,Missense_R170C,Missense_R170C,Silent,Missense_R170C,Missense_R170C,Missense_R170C,Missense_R170C,Missense_R170C,Missense_R170C,Missense_R170C,Missense_R170C,Missense_R170C,Missense_R170C,Missense_R170C exm158986 1 231830151 [T/C] NR_028399,NR_028394,NR_028393,NR_028400,NR_028397,NR_028395,NR_028396,NR_028398,NM_001164547,NM_001164541,NM_001164553,NM_001164542,NM_001164544,NM_001164537,NM_001164539,NM_001164546,NM_001164554,NM_001012957,NM_001164545,NM_001164556,NM_001164540,NM_001012959,NM_001164548,NM_001164549,NM_001012958,NM_001164550,NM_001164551,NM_001164552,NM_018662,NM_001164555,NM_001164538 TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_S216L,Missense_S216L,Missense_S216L,Missense_S216L,Missense_S216L,Missense_S216L,Missense_S216L,Missense_S216L,Missense_S216L,Missense_S216L,Missense_S216L,Silent,Missense_S216L,Missense_S216L,Missense_S216L,Missense_S216L,Missense_S216L,Missense_S216L,Missense_S216L,Missense_S216L,Missense_S216L,Missense_S216L,Missense_S216L exm158995 1 231830295 [A/G] NR_028399,NR_028394,NR_028393,NR_028400,NR_028397,NR_028395,NR_028396,NR_028398,NM_001164547,NM_001164541,NM_001164553,NM_001164542,NM_001164544,NM_001164537,NM_001164539,NM_001164546,NM_001164554,NM_001012957,NM_001164545,NM_001164556,NM_001164540,NM_001012959,NM_001164548,NM_001164549,NM_001012958,NM_001164550,NM_001164551,NM_001164552,NM_018662,NM_001164555,NM_001164538 TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_R264Q,Missense_R264Q,Missense_R264Q,Missense_R264Q,Missense_R264Q,Missense_R264Q,Missense_R264Q,Missense_R264Q,Missense_R264Q,Missense_R264Q,Missense_R264Q,Silent,Missense_R264Q,Missense_R264Q,Missense_R264Q,Missense_R264Q,Missense_R264Q,Missense_R264Q,Missense_R264Q,Missense_R264Q,Missense_R264Q,Missense_R264Q,Missense_R264Q exm158999 1 231830364 [T/C] NR_028399,NR_028394,NR_028393,NR_028400,NR_028397,NR_028395,NR_028396,NR_028398,NM_001164547,NM_001164541,NM_001164553,NM_001164542,NM_001164544,NM_001164537,NM_001164539,NM_001164546,NM_001164554,NM_001012957,NM_001164545,NM_001164556,NM_001164540,NM_001012959,NM_001164548,NM_001164549,NM_001012958,NM_001164550,NM_001164551,NM_001164552,NM_018662,NM_001164555,NM_001164538 TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_P287L,Missense_P287L,Missense_P287L,Missense_P287L,Missense_P287L,Missense_P287L,Missense_P287L,Missense_P287L,Missense_P287L,Missense_P287L,Missense_P287L,Silent,Missense_P287L,Missense_P287L,Missense_P287L,Missense_P287L,Missense_P287L,Missense_P287L,Missense_P287L,Missense_P287L,Missense_P287L,Missense_P287L,Missense_P287L exm2232756 1 231830487 [A/C] NR_028399,NR_028394,NR_028393,NR_028400,NR_028397,NR_028395,NR_028396,NR_028398,NM_001164547,NM_001164541,NM_001164553,NM_001164542,NM_001164544,NM_001164537,NM_001164539,NM_001164546,NM_001164554,NM_001012957,NM_001164545,NM_001164556,NM_001164540,NM_001012959,NM_001164548,NM_001164549,NM_001012958,NM_001164550,NM_001164551,NM_001164552,NM_018662,NM_001164555,NM_001164538 TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_T328N,Missense_T328N,Missense_T328N,Missense_T328N,Missense_T328N,Missense_T328N,Missense_T328N,Missense_T328N,Missense_T328N,Missense_T328N,Missense_T328N,Silent,Missense_T328N,Missense_T328N,Missense_T328N,Missense_T328N,Missense_T328N,Missense_T328N,Missense_T328N,Missense_T328N,Missense_T328N,Missense_T328N,Missense_T328N exm159002 1 231830492 [T/C] NR_028399,NR_028394,NR_028393,NR_028400,NR_028397,NR_028395,NR_028396,NR_028398,NM_001164547,NM_001164541,NM_001164553,NM_001164542,NM_001164544,NM_001164537,NM_001164539,NM_001164546,NM_001164554,NM_001012957,NM_001164545,NM_001164556,NM_001164540,NM_001012959,NM_001164548,NM_001164549,NM_001012958,NM_001164550,NM_001164551,NM_001164552,NM_018662,NM_001164555,NM_001164538 TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_L330F,Missense_L330F,Missense_L330F,Missense_L330F,Missense_L330F,Missense_L330F,Missense_L330F,Missense_L330F,Missense_L330F,Missense_L330F,Missense_L330F,Silent,Missense_L330F,Missense_L330F,Missense_L330F,Missense_L330F,Missense_L330F,Missense_L330F,Missense_L330F,Missense_L330F,Missense_L330F,Missense_L330F,Missense_L330F exm159004 1 231830538 [A/G] NR_028399,NR_028394,NR_028393,NR_028400,NR_028397,NR_028395,NR_028396,NR_028398,NM_001164547,NM_001164541,NM_001164553,NM_001164542,NM_001164544,NM_001164537,NM_001164539,NM_001164546,NM_001164554,NM_001012957,NM_001164545,NM_001164556,NM_001164540,NM_001012959,NM_001164548,NM_001164549,NM_001012958,NM_001164550,NM_001164551,NM_001164552,NM_018662,NM_001164555,NM_001164538 TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_R345Q,Missense_R345Q,Missense_R345Q,Missense_R345Q,Missense_R345Q,Missense_R345Q,Missense_R345Q,Missense_R345Q,Missense_R345Q,Missense_R345Q,Missense_R345Q,Silent,Missense_R345Q,Missense_R345Q,Missense_R345Q,Missense_R345Q,Missense_R345Q,Missense_R345Q,Missense_R345Q,Missense_R345Q,Missense_R345Q,Missense_R345Q,Missense_R345Q exm-rs12044355 1 231844347 [A/C] NR_028394,NR_028393,NR_028400,NR_028397,NR_028395,NR_028396,NR_028398,NM_001164547,NM_001164541,NM_001164553,NM_001164542,NM_001164544,NM_001164537,NM_001164539,NM_001164546,NM_001012957,NM_001164545,NM_001164556,NM_001164540,NM_001012959,NM_001164548,NM_001164549,NM_001012958,NM_001164550,NM_001164551,NM_001164552,NM_018662,NM_001164555,NM_001164538 TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm159020 1 231885807 [A/G] NR_028394,NR_028393,NR_028400,NR_028397,NR_028395,NR_028396,NR_028398,NM_001164547,NM_001164541,NM_001164542,NM_001164544,NM_001164537,NM_001164539,NM_001164546,NM_001012957,NM_001164545,NM_001164556,NM_001164540,NM_001012959,NM_001164548,NM_001164549,NM_001164551,NM_018662,NM_001164555,NM_001164538 TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_R418H,Missense_R418H,Missense_R418H,Missense_R418H,Missense_R450H,Missense_R418H,Missense_R418H,Missense_R418H,Missense_R418H,Missense_R68H,Missense_R418H,Missense_R418H,Missense_R418H,Missense_R418H,Missense_R418H,Missense_R418H,Silent,Missense_R418H exm-rs2793086 1 231899704 [T/G] NR_028394,NR_028393,NR_028397,NR_028395,NR_028396,NR_028398,NM_001164547,NM_001164541,NM_001164542,NM_001164544,NM_001164537,NM_001164539,NM_001164546,NM_001012957,NM_001164545,NM_001164556,NM_001164540,NM_001012959,NM_001164548,NM_001164549,NM_018662,NM_001164538 TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm159023 1 231902893 [A/G] NR_028394,NR_028393,NR_028397,NR_028395,NR_028396,NR_028398,NM_001164547,NM_001164541,NM_001164542,NM_001164544,NM_001164537,NM_001164539,NM_001164546,NM_001012957,NM_001164545,NM_001164556,NM_001164540,NM_001012959,NM_001164548,NM_001164549,NM_018662,NM_001164538 TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_G426R,Missense_G426R,Missense_G426R,Missense_G426R,Missense_G458R,Missense_G426R,Missense_G426R,Missense_G426R,Missense_G426R,Missense_G76R,Silent,Missense_G426R,Missense_G426R,Missense_G426R,Missense_G426R,Missense_G426R exm159030 1 231902975 [T/C] NR_028394,NR_028393,NR_028397,NR_028395,NR_028396,NR_028398,NM_001164547,NM_001164541,NM_001164542,NM_001164544,NM_001164537,NM_001164539,NM_001164546,NM_001012957,NM_001164545,NM_001164556,NM_001164540,NM_001012959,NM_001164548,NM_001164549,NM_018662,NM_001164538 TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_T453M,Missense_T453M,Missense_T453M,Missense_T453M,Missense_T485M,Missense_T453M,Missense_T453M,Missense_T453M,Missense_T453M,Missense_T103M,Silent,Missense_T453M,Missense_T453M,Missense_T453M,Missense_T453M,Missense_T453M exm2232759 1 231906773 [G/C] NR_028394,NR_028393,NR_028397,NR_028395,NR_028396,NR_028398,NM_001164547,NM_001164541,NM_001164542,NM_001164544,NM_001164537,NM_001164539,NM_001164546,NM_001012957,NM_001164545,NM_001164556,NM_001164540,NM_001012959,NM_001164548,NM_001164549,NM_018662,NM_001164538 TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_G531R,Missense_G531R,Missense_G531R,Missense_G531R,Missense_G563R,Missense_G531R,Missense_G531R,Missense_G531R,Missense_G531R,Missense_G181R,Silent,Missense_G531R,Missense_G531R,Missense_G531R,Missense_G531R,Missense_G531R exm159044 1 231906801 [A/C] NR_028394,NR_028393,NR_028397,NR_028395,NR_028396,NR_028398,NM_001164547,NM_001164541,NM_001164542,NM_001164544,NM_001164537,NM_001164539,NM_001164546,NM_001012957,NM_001164545,NM_001164556,NM_001164540,NM_001012959,NM_001164548,NM_001164549,NM_018662,NM_001164538 TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_P540Q,Missense_P540Q,Missense_P540Q,Missense_P540Q,Missense_P572Q,Missense_P540Q,Missense_P540Q,Missense_P540Q,Missense_P540Q,Missense_P190Q,Silent,Missense_P540Q,Missense_P540Q,Missense_P540Q,Missense_P540Q,Missense_P540Q exm159049 1 231935882 [T/C] NR_028394,NR_028393,NR_028397,NR_028395,NR_028396,NR_028398,NM_001164547,NM_001164541,NM_001164542,NM_001164544,NM_001164537,NM_001164539,NM_001164546,NM_001012957,NM_001164545,NM_001164556,NM_001164540,NM_001012959,NM_001164548,NM_018662,NM_001164538 TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_T573I,Missense_T573I,Missense_T573I,Missense_T605I,Missense_T573I,Silent,Missense_T573I,Silent,Silent,Missense_T451I,Missense_T573I,Silent,Missense_T573I,Missense_T573I exm159050 1 231935888 [A/G] NR_028394,NR_028393,NR_028397,NR_028395,NR_028396,NR_028398,NM_001164547,NM_001164541,NM_001164542,NM_001164544,NM_001164537,NM_001164539,NM_001164546,NM_001012957,NM_001164545,NM_001164556,NM_001164540,NM_001012959,NM_001164548,NM_018662,NM_001164538 TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_R575K,Missense_R575K,Missense_R575K,Missense_R607K,Missense_R575K,Silent,Missense_R575K,Silent,Silent,Missense_R453K,Missense_R575K,Silent,Missense_R575K,Missense_R575K exm159052 1 231954090 [T/C] NR_028394,NR_028393,NR_028397,NR_028395,NR_028396,NR_028398,NM_001164547,NM_001164541,NM_001164542,NM_001164544,NM_001164537,NM_001164539,NM_001164546,NM_001012957,NM_001164545,NM_001164556,NM_001164540,NM_001012959,NM_001164548,NM_018662,NM_001164538,NR_002227 TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC2 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_T603M,Missense_T603M,Missense_T603M,Missense_T635M,Missense_T603M,Silent,Missense_T603M,Missense_R569W,Synonymous_D200D,Missense_T481M,Missense_T603M,Synonymous_D550D,Missense_T603M,Missense_T603M,Silent exm159053 1 231954101 [T/C] NR_028394,NR_028393,NR_028397,NR_028395,NR_028396,NR_028398,NM_001164547,NM_001164541,NM_001164542,NM_001164544,NM_001164537,NM_001164539,NM_001164546,NM_001012957,NM_001164545,NM_001164556,NM_001164540,NM_001012959,NM_001164548,NM_018662,NM_001164538,NR_002227 TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC2 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_L607F,Missense_L607F,Missense_L607F,Missense_L639F,Missense_L607F,Silent,Missense_L607F,Synonymous_T572T,Silent,Missense_L485F,Missense_L607F,Silent,Missense_L607F,Missense_L607F,Silent exm2264964 1 232007196 [A/G] NR_028393,NM_001164547,NM_001164541,NM_001164542,NM_001164537,NM_001164546,NM_001012957,NM_001164540,NM_018662,NM_001164538 TSNAX-DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm159069 1 232094580 [A/G] NR_028393,NM_001164547,NM_001164541,NM_001164542,NM_001164537,NM_001164546,NM_001012957,NM_001164540,NM_018662,NM_001164538 TSNAX-DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1 EXON Silent,Synonymous_K547K,Silent,Missense_S663N,Missense_S695N,Synonymous_K547K,Missense_S663N,Missense_S541N,Missense_S663N,Missense_S663N exm159078 1 232144598 [A/T] NR_028393,NM_001164547,NM_001164541,NM_001164537,NM_001012957,NM_001164540,NM_018662,NM_001164538 TSNAX-DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1 EXON Silent,Silent,Missense_R683S,Missense_S736C,Missense_S704C,Missense_S582C,Missense_S704C,Missense_S704C exm159086 1 232144739 [G/C] NR_028393,NM_001164547,NM_001164541,NM_001164537,NM_001012957,NM_001164540,NM_018662,NM_001164538 TSNAX-DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1 EXON Silent,Silent,Silent,Missense_E783Q,Silent,Missense_E629Q,Missense_E751Q,Missense_E751Q exm159088 1 232144751 [T/C] NR_028393,NM_001164547,NM_001164541,NM_001164537,NM_001012957,NM_001164540,NM_018662,NM_001164538 TSNAX-DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1 EXON Silent,Silent,Silent,Missense_H787Y,Silent,Missense_H633Y,Missense_H755Y,Missense_H755Y exm159093 1 232144871 [A/G] NR_028393,NM_001164547,NM_001164541,NM_001164537,NM_001012957,NM_001164540,NM_018662,NM_001164538 TSNAX-DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_T795A exm159094 1 232144887 [A/G] NR_028393,NM_001164547,NM_001164541,NM_001164537,NM_001012957,NM_001164540,NM_018662,NM_001164538 TSNAX-DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_K800R exm-rs16856202 1 232155151 [T/G] NR_028393,NM_001164537,NM_001012957,NM_001164540,NM_018662 TSNAX-DISC1,DISC1,DISC1,DISC1,DISC1 Silent,Silent,Silent,Silent,Silent exm-rs10746514 1 232246027 [A/G] exm2265090 1 232385051 [A/G] exm2263853 1 232491315 [A/C] exm-rs669408 1 232519150 [A/C] exm159110 1 232534919 [T/C] NM_020808 SIPA1L2 EXON Missense_R1708Q exm159120 1 232539219 [T/C] NM_020808 SIPA1L2 EXON Missense_G1639S exm159133 1 232551300 [G/C] NM_020808 SIPA1L2 EXON Missense_P1568A exm159152 1 232561520 [A/G] NM_020808 SIPA1L2 EXON Missense_S1482L exm159162 1 232564288 [T/G] NM_020808 SIPA1L2 EXON Missense_M1427L exm159163 1 232564297 [A/T] NM_020808 SIPA1L2 EXON Missense_M1424L exm159166 1 232568021 [T/C] NM_020808 SIPA1L2 EXON Missense_E1410K exm159168 1 232568041 [A/G] NM_020808 SIPA1L2 EXON Missense_S1403L exm159173 1 232568146 [A/C] NM_020808 SIPA1L2 EXON Missense_V1368G exm159178 1 232574921 [T/C] NM_020808 SIPA1L2 EXON Missense_T1322A exm159179 1 232574927 [T/C] NM_020808 SIPA1L2 EXON Missense_A1320T exm159181 1 232574968 [C/G] NM_020808 SIPA1L2 EXON Missense_P1306R exm159193 1 232575219 [A/T] NM_020808 SIPA1L2 EXON Missense_S1222R exm159197 1 232577098 [T/C] NM_020808 SIPA1L2 EXON Missense_Y1194C exm159212 1 232581366 [T/C] NM_020808 SIPA1L2 EXON Missense_D1088N exm159215 1 232581426 [A/G] NM_020808 SIPA1L2 EXON Missense_R1068W exm159221 1 232581480 [T/C] NM_020808 SIPA1L2 EXON Missense_E1050K exm159222 1 232581486 [T/C] NM_020808 SIPA1L2 EXON Missense_D1048N exm159237 1 232596877 [T/C] NM_020808 SIPA1L2 EXON Missense_M951V exm159246 1 232600762 [T/C] NM_020808 SIPA1L2 EXON Missense_M882V exm159248 1 232600796 [A/C] NM_020808 SIPA1L2 EXON Missense_I870M exm2250875 1 232607134 [A/G] NM_020808 SIPA1L2 EXON Synonymous_T742T exm159269 1 232607220 [A/G] NM_020808 SIPA1L2 EXON Missense_P714S exm159295 1 232649660 [T/C] NM_020808 SIPA1L2 EXON Missense_I476V exm159298 1 232649818 [T/C] NM_020808 SIPA1L2 EXON Missense_R423Q exm159303 1 232649956 [T/C] NM_020808 SIPA1L2 EXON Missense_C377Y exm159305 1 232649979 [T/C] NM_020808 SIPA1L2 EXON Missense_M369I exm159319 1 232650164 [T/C] NM_020808 SIPA1L2 EXON Missense_T308A exm159321 1 232650208 [T/C] NM_020808 SIPA1L2 EXON Missense_R293Q exm159326 1 232650247 [T/C] NM_020808 SIPA1L2 EXON Missense_R280Q exm159349 1 232650916 [T/C] NM_020808 SIPA1L2 EXON Missense_N57S exm159352 1 232650941 [T/C] NM_020808 SIPA1L2 EXON Missense_T49A exm159362 1 232940863 [A/G] NM_019090 MAP10 EXON Missense_D32N exm159363 1 232940908 [A/G] NM_019090 MAP10 EXON Missense_T47A exm159364 1 232940944 [T/C] NM_019090 MAP10 EXON Missense_S59P exm159365 1 232940953 [T/C] NM_019090 MAP10 EXON Missense_S62P exm159367 1 232940974 [A/G] NM_019090 MAP10 EXON Missense_G69S exm159371 1 232941039 [A/C] NM_019090 MAP10 EXON Missense_N90K exm159379 1 232941105 [C/G] NM_019090 MAP10 EXON Missense_Q112H exm159380 1 232941110 [T/G] NM_019090 MAP10 EXON Missense_C114F exm159382 1 232941140 [A/G] NM_019090 MAP10 EXON Missense_R124Q exm159385 1 232941167 [C/G] NM_019090 MAP10 EXON Missense_P133R exm159386 1 232941173 [G/C] NM_019090 MAP10 EXON Missense_A135G exm159388 1 232941215 [A/G] NM_019090 MAP10 EXON Missense_E149G exm159395 1 232941424 [A/G] NM_019090 MAP10 EXON Missense_A219T exm159407 1 232941677 [T/G] NM_019090 MAP10 EXON Missense_R303L exm159412 1 232941844 [A/C] NM_019090 MAP10 EXON Missense_Q359K exm159418 1 232942025 [A/G] NM_019090 MAP10 EXON Missense_G419D exm159419 1 232942028 [A/G] NM_019090 MAP10 EXON Missense_N420S exm159428 1 232942163 [T/G] NM_019090 MAP10 EXON Missense_I465S exm159432 1 232942276 [A/G] NM_019090 MAP10 EXON Missense_E503K exm159434 1 232942373 [T/G] NM_019090 MAP10 EXON Missense_R535M exm159437 1 232942469 [A/G] NM_019090 MAP10 EXON Nonsense_W567X exm159439 1 232942505 [T/C] NM_019090 MAP10 EXON Missense_S579F exm159447 1 232942679 [T/C] NM_019090 MAP10 EXON Missense_L637P exm159456 1 232942926 [T/A] NM_019090 MAP10 EXON Missense_R719S exm159463 1 232943219 [A/G] NM_019090 MAP10 EXON Missense_D817G exm159480 1 232943513 [A/T] NM_019090 MAP10 EXON Missense_H915L exm159488 1 232943746 [T/G] NM_019090 MAP10 EXON Missense_V993L exm1768340 1 232943757 [C/G] NM_019090 MAP10 EXON Nonsense_Y996X exm159492 1 232943812 [T/C] NM_019090 MAP10 EXON Missense_F1015L exm2232770 1 232943888 [A/G] NM_019090 MAP10 EXON Missense_N1040S exm2260040 1 233022124 [T/C] exm2264965 1 233023947 [A/G] exm159504 1 233091357 [G/C] NM_032324 NTPCR EXON Missense_G30A exm159509 1 233091465 [A/G] NM_032324 NTPCR EXON Missense_G66E exm159512 1 233092169 [T/G] NM_032324 NTPCR EXON Missense_A92S exm159514 1 233105677 [A/G] NM_032324 NTPCR EXON Missense_G106E exm159517 1 233105691 [A/G] NM_032324 NTPCR EXON Missense_V111I exm159540 1 233120167 [T/G] NM_014801 PCNXL2 EXON Missense_D2099E exm159542 1 233120192 [A/G] NM_014801 PCNXL2 EXON Missense_A2091V exm159543 1 233120199 [A/G] NM_014801 PCNXL2 EXON Missense_P2089S exm159550 1 233121884 [T/C] NM_014801 PCNXL2 EXON Missense_N2065S exm159555 1 233121951 [T/C] NM_014801 PCNXL2 EXON Missense_V2043I exm159559 1 233121968 [G/C] NM_014801 PCNXL2 EXON Missense_S2037T exm159560 1 233122016 [A/G] NM_014801 PCNXL2 EXON Missense_L2021P exm159571 1 233122127 [T/C] NM_014801 PCNXL2 EXON Missense_R1984Q exm159576 1 233122172 [A/G] NM_014801 PCNXL2 EXON Missense_T1969M exm159581 1 233134086 [T/C] NM_014801 PCNXL2 EXON Missense_S1901N exm159584 1 233134132 [T/C] NM_014801 PCNXL2 EXON Missense_V1886M exm159591 1 233135059 [A/G] NM_014801 PCNXL2 EXON Missense_R1799C exm159594 1 233136061 [T/C] NM_014801 PCNXL2 EXON Missense_K1773R exm159598 1 233136181 [A/G] NM_014801 PCNXL2 EXON Missense_P1733L exm159612 1 233150502 [T/C] NM_014801 PCNXL2 EXON Missense_D1621N exm159614 1 233152680 [T/C] NM_014801 PCNXL2 EXON Missense_R1609Q exm159615 1 233152681 [A/G] NM_014801 PCNXL2 EXON Missense_R1609W exm159624 1 233152878 [A/G] NM_014801 PCNXL2 EXON Missense_T1543M exm159629 1 233160950 [A/G] NM_014801 PCNXL2 EXON Missense_A1516V exm159636 1 233190016 [T/C] NM_014801 PCNXL2 EXON Missense_R1450Q exm159668 1 233275581 [A/G] NM_014801 PCNXL2 EXON Missense_F1180L exm159672 1 233296041 [A/G] NM_014801 PCNXL2 EXON Missense_R1169W exm159674 1 233296056 [T/C] NM_014801 PCNXL2 EXON Missense_K1164E exm159676 1 233296103 [T/C] NM_014801 PCNXL2 EXON Missense_R1148H exm159677 1 233296119 [T/C] NM_014801 PCNXL2 EXON Missense_V1143M exm159684 1 233297017 [T/G] NM_014801 PCNXL2 EXON Synonymous_R1122R exm159685 1 233297018 [T/C] NM_014801 PCNXL2 EXON Missense_R1122Q exm159694 1 233313565 [T/C] NM_014801 PCNXL2 EXON Missense_K1086E exm159697 1 233313594 [T/G] NM_014801 PCNXL2 EXON Missense_A1076E exm159699 1 233314839 [T/C] NM_014801 PCNXL2 EXON Missense_R1050H exm159701 1 233314861 [T/C] NM_014801 PCNXL2 EXON Missense_A1043T exm1768460 1 233334737 [T/C] NM_014801 PCNXL2 EXON Missense_R1005Q exm159710 1 233335945 [T/C] NM_014801 PCNXL2 EXON Missense_T977A exm-rs12027542 1 233340154 [A/G] NM_014801 PCNXL2 Silent exm159719 1 233353800 [T/C] NM_014801 PCNXL2 EXON Missense_S879G exm159723 1 233353901 [A/G] NM_014801 PCNXL2 EXON Missense_A845V exm159725 1 233362973 [T/G] NM_014801 PCNXL2 EXON Synonymous_R835R exm159730 1 233363116 [T/C] NM_014801 PCNXL2 EXON Missense_H787R exm159738 1 233372676 [A/G] NM_014801 PCNXL2 EXON Missense_P758L exm159740 1 233372726 [A/T] NM_014801 PCNXL2 EXON Synonymous_R741R exm2232774 1 233394032 [T/C] NM_014801 PCNXL2 EXON Missense_R526G exm159776 1 233394248 [T/C] NM_014801 PCNXL2 EXON Missense_T454A exm1768495 1 233394445 [A/G] NM_014801 PCNXL2 EXON Missense_T388I exm159784 1 233394464 [T/C] NM_014801 PCNXL2 EXON Missense_S382G exm159785 1 233394479 [T/C] NM_014801 PCNXL2 EXON Missense_V377I exm159796 1 233394781 [A/C] NM_014801 PCNXL2 EXON Missense_W276L exm2250881 1 233394798 [A/G] NM_014801 PCNXL2 EXON Synonymous_D270D exm159800 1 233394911 [T/C] NM_014801 PCNXL2 EXON Missense_G233S exm159805 1 233395007 [C/G] NM_014801 PCNXL2 EXON Missense_Q201E exm159807 1 233397057 [A/G] NM_014801 PCNXL2 EXON Missense_A164V exm159811 1 233397855 [A/G] NM_014801 PCNXL2 EXON Missense_T139M exm159815 1 233397909 [T/C] NM_014801 PCNXL2 EXON Missense_N121S exm159816 1 233397912 [T/C] NM_014801 PCNXL2 Silent exm159817 1 233398713 [T/C] NM_014801 PCNXL2 EXON Missense_R117K exm159818 1 233398749 [T/G] NM_014801 PCNXL2 EXON Missense_D105A exm159823 1 233398867 [A/C] NM_014801 PCNXL2 EXON Missense_A66S exm159825 1 233398893 [A/G] NM_014801 PCNXL2 EXON Missense_A57V exm159839 1 233464070 [T/C] NM_032435 KIAA1804 EXON Missense_P99L exm159863 1 233489584 [A/G] NM_032435 KIAA1804 EXON Missense_G340R exm2264966 1 233490138 [A/G] NM_032435 KIAA1804 Silent exm159882 1 233490701 [A/G] NM_032435 KIAA1804 EXON Missense_D419N exm159883 1 233490704 [A/G] NM_032435 KIAA1804 EXON Missense_D420N exm159895 1 233507831 [T/C] NM_032435 KIAA1804 EXON Missense_R534W exm159899 1 233511675 [A/C] NM_032435 KIAA1804 EXON Missense_E563D exm159900 1 233511680 [A/G] NM_032435 KIAA1804 EXON Missense_N565S exm159901 1 233511776 [T/C] NM_032435 KIAA1804 EXON Missense_S597F exm159905 1 233512214 [G/C] NM_032435 KIAA1804 EXON Missense_T622S exm159907 1 233512273 [A/G] NM_032435 KIAA1804 EXON Missense_G642R exm2273755 1 233514836 [T/C] NM_032435 KIAA1804 EXON Missense_A695V exm159917 1 233514934 [A/G] NM_032435 KIAA1804 EXON Missense_V728I exm159920 1 233514975 [T/G] NM_032435 KIAA1804 EXON Missense_E741D exm159925 1 233515049 [A/G] NM_032435 KIAA1804 EXON Missense_R766Q exm159930 1 233515102 [T/G] NM_032435 KIAA1804 EXON Missense_C784G exm159933 1 233515154 [T/C] NM_032435 KIAA1804 EXON Missense_I801T exm159936 1 233515279 [T/C] NM_032435 KIAA1804 EXON Missense_P843S exm159937 1 233515292 [A/G] NM_032435 KIAA1804 EXON Missense_R847H exm2232776 1 233515426 [T/C] NM_032435 KIAA1804 EXON Missense_R892W exm159943 1 233515427 [A/G] NM_032435 KIAA1804 EXON Missense_R892Q exm159944 1 233515451 [T/C] NM_032435 KIAA1804 EXON Missense_T900I exm159957 1 233518275 [T/C] NM_032435 KIAA1804 EXON Missense_R977C exm159958 1 233518291 [T/C] NM_032435 KIAA1804 EXON Missense_P982L exm159963 1 233518417 [A/G] NM_032435 KIAA1804 EXON Missense_R1024Q exm2250883 1 233518451 [A/G] NM_032435 KIAA1804 EXON Synonymous_L1035L exm-rs10910200 1 233643856 [G/C] exm159971 1 233750008 [T/G] NM_002245 KCNK1 EXON Missense_L31V exm159973 1 233750066 [A/G] NM_002245 KCNK1 EXON Missense_D50G exm159998 1 233802497 [A/G] NM_002245 KCNK1 EXON Missense_R171H exm160002 1 233802569 [T/G] NM_002245 KCNK1 EXON Missense_F195C exm160009 1 233802691 [A/G] NM_002245 KCNK1 EXON Missense_G236S exm160013 1 233807068 [A/G] NM_002245 KCNK1 EXON Missense_C268Y exm160014 1 233807077 [A/G] NM_002245 KCNK1 EXON Missense_H271R exm1768614 1 233807256 [A/G] NM_002245 KCNK1 EXON Missense_D331N exm2250888 1 234097138 [A/G] NM_173508 SLC35F3 Silent exm2268982 1 234166129 [T/C] NM_173508 SLC35F3 Silent exm160044 1 234367294 [A/G] NM_173508 SLC35F3 EXON Missense_V139M exm160046 1 234367309 [T/G] NM_173508 SLC35F3 EXON Missense_C144G exm160047 1 234367327 [A/G] NM_173508 SLC35F3 EXON Missense_A150T exm160082 1 234458787 [A/G] NM_173508 SLC35F3 EXON Missense_N424S exm160099 1 234509561 [A/C] NM_001206641,NM_001012985 COA6,COA6 EXON Silent,Missense_H33N exm160101 1 234509568 [G/C] NM_001206641,NM_001012985 COA6,COA6 EXON Silent,Missense_P35R exm160102 1 234509586 [A/G] NM_001206641,NM_001012985 COA6,COA6 EXON Silent,Missense_S41N exm2268844 1 234524045 [T/C] exm160139 1 234529406 [A/G] NM_005646 TARBP1 EXON Missense_P1474L exm160140 1 234529433 [A/G] NM_005646 TARBP1 EXON Missense_I1465T exm160141 1 234529446 [T/C] NM_005646 TARBP1 EXON Missense_I1461V exm2232790 1 234529508 [T/C] NM_005646 TARBP1 EXON Missense_R1440H exm160155 1 234534241 [A/G] NM_005646 TARBP1 EXON Missense_I1377T exm160160 1 234536947 [A/G] NM_005646 TARBP1 EXON Missense_L1351F exm160161 1 234536951 [G/C] NM_005646 TARBP1 EXON Missense_H1349Q exm160163 1 234536985 [T/C] NM_005646 TARBP1 EXON Missense_R1338H exm1768776 1 234546246 [A/G] NM_005646 TARBP1 EXON Missense_T1246M exm160181 1 234556462 [G/C] NM_005646 TARBP1 EXON Missense_P1181A exm160182 1 234556479 [A/G] NM_005646 TARBP1 EXON Missense_T1175I exm160192 1 234561498 [T/C] NM_005646 TARBP1 EXON Missense_K1122R exm160201 1 234563332 [A/G] NM_005646 TARBP1 EXON Missense_R1081C exm160211 1 234564902 [A/C] NM_005646 TARBP1 EXON Missense_A1014S exm160217 1 234564951 [T/A] NM_005646 TARBP1 EXON Missense_F997L exm160224 1 234565176 [T/C] NM_005646 TARBP1 EXON Missense_V953M exm160228 1 234565208 [T/C] NM_005646 TARBP1 EXON Missense_D942G exm160240 1 234565854 [A/G] NM_005646 TARBP1 EXON Missense_A863V exm1768795 1 234565893 [A/G] NM_005646 TARBP1 EXON Missense_T850M exm160246 1 234565905 [T/G] NM_005646 TARBP1 EXON Missense_Q846P exm160256 1 234569301 [T/C] NM_005646 TARBP1 EXON Missense_R750H exm160257 1 234573025 [T/C] NM_005646 TARBP1 EXON Missense_N743S exm160262 1 234582651 [T/C] NM_005646 TARBP1 EXON Missense_S678G exm160265 1 234582720 [T/C] NM_005646 TARBP1 EXON Missense_G655R exm-rs10489896 1 234583618 [T/C] NM_005646 TARBP1 Silent exm160271 1 234584305 [T/G] NM_005646 TARBP1 EXON Missense_P628T exm160272 1 234586175 [T/C] NM_005646 TARBP1 EXON Synonymous_E620E exm160273 1 234586195 [C/G] NM_005646 TARBP1 EXON Missense_V614L exm160275 1 234586237 [T/C] NM_005646 TARBP1 EXON Missense_T600A exm1768813 1 234594981 [A/C] NM_005646 TARBP1 EXON Missense_D543Y exm160291 1 234595070 [T/C] NM_005646 TARBP1 EXON Missense_D513G exm160292 1 234596017 [C/G] NM_005646 TARBP1 EXON Missense_L509V exm160295 1 234596111 [T/C] NM_005646 TARBP1 EXON Missense_M477I exm160296 1 234596119 [A/G] NM_005646 TARBP1 EXON Missense_R475W exm160303 1 234601414 [A/G] NM_005646 TARBP1 EXON Missense_S430F exm160307 1 234601430 [T/C] NM_005646 TARBP1 EXON Missense_A425T exm160316 1 234603322 [T/A] NM_005646 TARBP1 EXON Missense_S392T exm160329 1 234613920 [T/G] NM_005646 TARBP1 EXON Missense_N310K exm-rs12142968 1 234694041 [T/G] exm-rs744487 1 234726012 [A/C] exm160390 1 234743467 [T/G] NM_182972,NM_001077397 IRF2BP2,IRF2BP2 EXON Missense_T394P,Missense_T378P exm160401 1 234744239 [A/G] NM_182972,NM_001077397 IRF2BP2,IRF2BP2 EXON Synonymous_G334G,Silent exm-rs2069084 1 234984988 [A/G] exm2264968 1 235011725 [A/G] exm160468 1 235295240 [A/G] NR_027762,NM_015014 RBM34,RBM34 EXON Silent,Missense_R361C exm2232795 1 235295263 [T/A] NR_027762,NM_015014 RBM34,RBM34 EXON Silent,Missense_M353K exm160484 1 235301421 [A/G] NR_027762,NM_015014 RBM34,RBM34 EXON Silent,Missense_T257M exm160500 1 235318305 [T/C] NR_027762,NM_015014,NM_001161533 RBM34,RBM34,RBM34 EXON Silent,Missense_D163G,Missense_D163G exm160501 1 235318339 [T/C] NR_027762,NM_015014,NM_001161533 RBM34,RBM34,RBM34 EXON Silent,Missense_V152I,Missense_V152I exm160510 1 235323956 [T/C] NR_027762,NM_015014,NM_001161533 RBM34,RBM34,RBM34 EXON Silent,Missense_I79V,Missense_I79V exm160511 1 235323959 [T/C] NR_027762,NM_015014,NM_001161533 RBM34,RBM34,RBM34 EXON Silent,Missense_T78A,Missense_T78A exm160513 1 235324212 [A/G] NR_027762,NM_015014,NM_001161533 RBM34,RBM34,RBM34 EXON Silent,Missense_P75L,Missense_P75L exm160515 1 235324219 [A/G] NR_027762,NM_015014,NM_001161533 RBM34,RBM34,RBM34 EXON Silent,Missense_P73S,Missense_P73S exm160518 1 235324276 [T/C] NR_027762,NM_015014,NM_001161533 RBM34,RBM34,RBM34 EXON Silent,Missense_G54S,Missense_G54S exm2250895 1 235324298 [T/C] NR_027762,NM_015014,NM_001161533 RBM34,RBM34,RBM34 EXON Silent,Synonymous_E46E,Synonymous_E46E exm160524 1 235324498 [A/G] NR_027762,NM_015014,NM_001161533 RBM34,RBM34,RBM34 EXON Silent,Missense_V15A,Missense_V15A exm160526 1 235324506 [A/C] NR_027762,NM_015014,NM_001161533 RBM34,RBM34,RBM34 EXON Silent,Missense_K12N,Missense_K12N exm160527 1 235324510 [T/C] NR_027762,NM_015014,NM_001161533 RBM34,RBM34,RBM34 EXON Silent,Missense_R11K,Missense_R11K exm160546 1 235338517 [T/G] NM_001206794,NM_031371,NM_016374 ARID4B,ARID4B,ARID4B EXON Missense_K1216Q,Missense_K1130Q,Missense_K1216Q exm160554 1 235338597 [T/C] NM_001206794,NM_031371,NM_016374 ARID4B,ARID4B,ARID4B EXON Missense_Q1189R,Missense_Q1103R,Missense_Q1189R exm160556 1 235338600 [A/G] NM_001206794,NM_031371,NM_016374 ARID4B,ARID4B,ARID4B EXON Missense_T1188M,Missense_T1102M,Missense_T1188M exm160557 1 235338618 [A/G] NM_001206794,NM_031371,NM_016374 ARID4B,ARID4B,ARID4B EXON Missense_T1182I,Missense_T1096I,Missense_T1182I exm160571 1 235345058 [T/C] NM_001206794,NM_031371,NM_016374 ARID4B,ARID4B,ARID4B EXON Missense_R1059Q,Missense_R973Q,Missense_R1059Q exm160574 1 235345115 [T/C] NM_001206794,NM_031371,NM_016374 ARID4B,ARID4B,ARID4B EXON Missense_R1040Q,Missense_R954Q,Missense_R1040Q exm160576 1 235345215 [T/C] NM_001206794,NM_031371,NM_016374 ARID4B,ARID4B,ARID4B EXON Missense_R1007G,Missense_R921G,Missense_R1007G exm160578 1 235345317 [T/C] NM_001206794,NM_031371,NM_016374 ARID4B,ARID4B,ARID4B EXON Missense_A973T,Missense_A887T,Missense_A973T exm160579 1 235345346 [T/C] NM_001206794,NM_031371,NM_016374 ARID4B,ARID4B,ARID4B EXON Missense_G963E,Missense_G877E,Missense_G963E exm160590 1 235345674 [T/C] NM_001206794,NM_031371,NM_016374 ARID4B,ARID4B,ARID4B EXON Missense_M854V,Missense_M768V,Missense_M854V exm160601 1 235345832 [A/G] NM_001206794,NM_031371,NM_016374 ARID4B,ARID4B,ARID4B EXON Missense_T801I,Missense_T715I,Missense_T801I exm160603 1 235345877 [A/G] NM_001206794,NM_031371,NM_016374 ARID4B,ARID4B,ARID4B EXON Missense_I786T,Missense_I700T,Missense_I786T exm2250896 1 235383161 [T/C] NM_001206794,NM_031371,NM_016374 ARID4B,ARID4B,ARID4B EXON Synonymous_V510V,Synonymous_V510V,Synonymous_V510V exm160632 1 235383177 [T/C] NM_001206794,NM_031371,NM_016374 ARID4B,ARID4B,ARID4B EXON Missense_D505G,Missense_D505G,Missense_D505G exm160639 1 235383742 [G/C] NM_001206794,NM_031371,NM_016374 ARID4B,ARID4B,ARID4B EXON Missense_V428L,Missense_V428L,Missense_V428L exm160647 1 235392546 [T/C] NM_001206794,NM_031371,NM_016374 ARID4B,ARID4B,ARID4B EXON Synonymous_E299E,Synonymous_E299E,Synonymous_E299E exm160648 1 235392565 [T/C] NM_001206794,NM_031371,NM_016374 ARID4B,ARID4B,ARID4B EXON Missense_D293G,Missense_D293G,Missense_D293G exm1768928 1 235403741 [A/G] NM_001206794,NM_031371,NM_016374 ARID4B,ARID4B,ARID4B EXON Missense_S158P,Missense_S158P,Missense_S158P exm160686 1 235505621 [A/C] NM_001037277,NR_036605 GGPS1,GGPS1 EXON Missense_A146D,Silent exm160691 1 235505849 [C/G] NM_001037277,NR_036605 GGPS1,GGPS1 EXON Missense_W222S,Silent exm2232801 1 235505879 [A/G] NM_001037277,NR_036605 GGPS1,GGPS1 EXON Missense_N232S,Silent exm160700 1 235543384 [T/C] NM_003193,NM_001079515 TBCE,TBCE EXON Missense_A7V,Missense_A7V exm160701 1 235543465 [A/G] NM_003193,NM_001079515 TBCE,TBCE Silent,Silent exm160705 1 235564903 [A/G] NM_003193,NM_001079515 TBCE,TBCE Silent,Silent exm160708 1 235577753 [T/C] NM_003193,NM_001079515 TBCE,TBCE EXON Missense_P64L,Missense_P64L exm1768956 1 235577756 [A/C] NM_003193,NM_001079515 TBCE,TBCE EXON Missense_T65K,Missense_T65K exm160709 1 235577776 [T/C] NM_003193,NM_001079515 TBCE,TBCE EXON Missense_P72S,Missense_P72S exm160711 1 235577815 [A/G] NM_003193,NM_001079515 TBCE,TBCE EXON Missense_I85V,Missense_I85V exm160714 1 235577905 [A/G] NM_003193,NM_001079515 TBCE,TBCE EXON Missense_G115S,Missense_G115S exm160715 1 235582810 [A/G] NM_003193,NM_001079515 TBCE,TBCE EXON Missense_V132I,Missense_V132I exm160717 1 235582862 [G/C] NM_003193,NM_001079515 TBCE,TBCE EXON Missense_A149G,Missense_A149G exm160723 1 235594028 [A/C] NM_003193,NM_001079515 TBCE,TBCE EXON Missense_K190T,Missense_K190T exm1768967 1 235594040 [T/C] NM_003193,NM_001079515 TBCE,TBCE EXON Missense_P194L,Missense_P194L exm160726 1 235594073 [T/C] NM_003193,NM_001079515 TBCE,TBCE EXON Missense_V205A,Missense_V205A exm1768969 1 235597525 [T/C] NM_003193,NM_001079515 TBCE,TBCE EXON Missense_R223W,Missense_R223W exm2250897 1 235598973 [T/C] NM_003193,NM_001079515 TBCE,TBCE Silent,Silent exm160733 1 235599702 [T/C] NM_003193,NM_001079515 TBCE,TBCE EXON Synonymous_L279L,Synonymous_L279L exm160738 1 235599875 [C/G] NM_003193,NM_001079515 TBCE,TBCE EXON Missense_M305I,Missense_M305I exm-rs6429082 1 235600129 [T/C] NM_003193,NM_001079515 TBCE,TBCE Silent,Silent exm160745 1 235600731 [T/C] NM_003193,NM_001079515 TBCE,TBCE EXON Missense_T353M,Missense_T353M exm160748 1 235600736 [T/C] NM_003193,NM_001079515 TBCE,TBCE EXON Nonsense_R355X,Nonsense_R355X exm1768989 1 235602102 [T/C] NM_003193,NM_001079515 TBCE,TBCE EXON Missense_R379W,Missense_R379W exm160756 1 235602193 [A/G] NM_003193,NM_001079515 TBCE,TBCE EXON Missense_E409G,Missense_E409G exm160762 1 235606224 [T/C] NM_003193,NM_001079515 TBCE,TBCE EXON Missense_P466L,Missense_P466L exm160766 1 235611703 [A/G] NM_003193,NM_001079515,NM_152490 TBCE,TBCE,B3GALNT2 EXON Missense_R480H,Missense_R480H,Silent exm160768 1 235611729 [A/C] NM_003193,NM_001079515,NM_152490 TBCE,TBCE,B3GALNT2 EXON Missense_L489I,Missense_L489I,Silent exm1768996 1 235612070 [A/G] NM_003193,NM_001079515,NM_152490 TBCE,TBCE,B3GALNT2 EXON Missense_R526Q,Missense_R526Q,Silent exm160788 1 235617583 [T/C] NM_152490 B3GALNT2 EXON Missense_E399G exm160789 1 235617601 [T/C] NM_152490 B3GALNT2 EXON Missense_R393Q exm160802 1 235622071 [A/G] NM_152490 B3GALNT2 EXON Missense_L289F exm160812 1 235643446 [T/C] NM_152490 B3GALNT2 EXON Missense_R192H exm160817 1 235647693 [T/C] NM_152490 B3GALNT2 EXON Missense_N167S exm160823 1 235647783 [A/G] NM_152490 B3GALNT2 EXON Missense_S137L exm2275216 1 235652575 [T/C] NM_152490 B3GALNT2 Silent exm160837 1 235658082 [T/C] NM_152490 B3GALNT2 EXON Missense_V57M exm160838 1 235658099 [T/C] NM_152490 B3GALNT2 EXON Missense_Y51C exm160849 1 235715488 [T/C] NM_001098722,NM_001098721,NM_004485 GNG4,GNG4,GNG4 EXON Missense_R50Q,Missense_R50Q,Missense_R50Q exm-rs291353 1 235720898 [T/C] NM_001098722,NM_001098721,NM_004485 GNG4,GNG4,GNG4 Silent,Silent,Silent exm2265091 1 235771589 [A/G] NM_001098722,NM_001098721,NM_004485 GNG4,GNG4,GNG4 Silent,Silent,Silent exm160872 1 235827874 [T/C] NM_000081 LYST EXON Missense_V3696I exm160885 1 235856682 [A/C] NM_000081 LYST EXON Missense_V3557L exm160890 1 235860421 [T/C] NM_000081 LYST EXON Missense_R3509Q exm2232805 1 235860456 [G/C] NM_000081 LYST EXON Missense_Q3497H exm160892 1 235860470 [A/G] NM_000081 LYST EXON Missense_F3493L exm160901 1 235866186 [T/C] NM_000081 LYST EXON Missense_R3412H exm160924 1 235884048 [T/C] NM_000081 LYST EXON Missense_N3158S exm160928 1 235884144 [T/C] NM_000081 LYST EXON Missense_G3126D exm160942 1 235894231 [C/G] NM_000081 LYST EXON Missense_P2987R exm160944 1 235894366 [A/C] NM_000081 LYST EXON Missense_N2971K exm160949 1 235894473 [T/C] NM_000081 LYST EXON Missense_V2936I exm160951 1 235896947 [A/G] NM_000081 LYST EXON Missense_I2886T exm1769075 1 235896980 [T/C] NM_000081 LYST EXON Missense_R2875H exm160955 1 235897182 [T/C] NM_000081 LYST EXON Missense_E2854K exm160962 1 235897907 [T/C] NM_000081 LYST EXON Missense_G2804D exm160965 1 235897950 [T/G] NM_000081 LYST EXON Missense_K2790Q exm160975 1 235904866 [G/C] NM_000081 LYST EXON Missense_E2738D exm160978 1 235907287 [T/C] NM_000081 LYST EXON Missense_V2715I exm2250899 1 235909697 [T/C] NM_000081 LYST EXON Synonymous_T2637T exm160990 1 235909776 [T/C] NM_000081 LYST EXON Missense_R2611H exm160993 1 235909815 [T/A] NM_000081 LYST EXON Missense_F2598Y exm160998 1 235914653 [A/C] NM_000081 LYST EXON Missense_V2546G exm161001 1 235915447 [A/C] NM_000081 LYST EXON Missense_L2495F exm161006 1 235916419 [T/G] NM_000081 LYST EXON Missense_A2462E exm161026 1 235922341 [T/C] NM_000081 LYST EXON Missense_D2271G exm161028 1 235922371 [T/C] NM_000081 LYST EXON Missense_R2261H exm161030 1 235922443 [T/G] NM_000081 LYST EXON Missense_Q2237P exm161032 1 235922471 [C/G] NM_000081 LYST EXON Missense_D2228H exm161043 1 235922671 [T/G] NM_000081 LYST EXON Missense_E2161A exm161045 1 235922698 [T/C] NM_000081 LYST EXON Missense_S2152N exm161051 1 235922861 [T/C] NM_000081 LYST EXON Missense_A2098T exm161056 1 235926062 [T/C] NM_000081 LYST EXON Missense_M2071V exm161068 1 235929555 [A/G] NM_000081 LYST EXON Missense_T1982I exm161071 1 235933535 [G/C] NM_000081 LYST EXON Missense_Q1949H exm161073 1 235933593 [T/C] NM_000081 LYST EXON Missense_G1930D exm161080 1 235937250 [T/C] NM_000081 LYST EXON Missense_M1892I exm161082 1 235937290 [T/G] NM_000081 LYST EXON Missense_T1879N exm161087 1 235938329 [A/C] NM_000081 LYST EXON Missense_S1840A exm161088 1 235938348 [T/A] NM_000081 LYST EXON Missense_L1833F exm161093 1 235940449 [T/C] NM_000081 LYST EXON Missense_N1792D exm161115 1 235950666 [A/T] NM_000081 LYST EXON Missense_M1566L exm161120 1 235952052 [A/G] NM_000081 LYST EXON Missense_A1546V exm1769131 1 235952111 [T/A] NM_000081 LYST EXON Missense_N1526K exm161133 1 235955172 [T/G] NM_000081 LYST EXON Missense_H1457P exm161135 1 235955205 [T/C] NM_000081 LYST EXON Missense_R1446Q exm161144 1 235963637 [T/G] NM_000081 LYST EXON Missense_D1330A exm161147 1 235964212 [T/C] NM_000081 LYST EXON Missense_I1300V exm1769142 1 235964353 [T/G] NM_000081 LYST EXON Missense_S1253R exm161156 1 235966273 [A/G] NM_000081 LYST EXON Missense_V1216A exm161165 1 235969077 [A/C] NM_000081 LYST EXON Missense_S1120I exm161168 1 235969125 [T/C] NM_000081 LYST EXON Missense_R1104Q exm161171 1 235969228 [T/C] NM_000081 LYST EXON Missense_I1070V exm161179 1 235969353 [G/C] NM_000081 LYST EXON Missense_S1028C exm161196 1 235969566 [A/G] NM_000081 LYST EXON Missense_M957T exm161205 1 235969711 [T/C] NM_000081 LYST EXON Missense_V909I exm161214 1 235969993 [A/G] NM_000081 LYST EXON Missense_H815Y exm161223 1 235971968 [T/C] NM_000081 LYST EXON Missense_N717S exm161236 1 235972352 [T/C] NM_000081 LYST EXON Missense_K589R exm161245 1 235972432 [G/C] NM_000081 LYST EXON Missense_Q562H exm2232811 1 235972454 [T/G] NM_000081 LYST EXON Missense_H555P exm161254 1 235972553 [A/G] NM_000081 LYST EXON Missense_S522L exm161260 1 235972734 [A/G] NM_000081 LYST EXON Missense_P462S exm161267 1 235973121 [A/G] NM_000081 LYST EXON Missense_H333Y exm161269 1 235973169 [T/C] NM_000081 LYST EXON Missense_E317K exm161276 1 235973426 [T/C] NM_000081 LYST EXON Missense_Q231R exm161282 1 235973521 [G/C] NM_000081 LYST EXON Missense_D199E exm161284 1 235973544 [A/C] NM_000081 LYST EXON Missense_L192V exm161297 1 235973750 [T/C] NM_000081 LYST EXON Missense_H123R exm161310 1 235993575 [T/C] NM_000081 LYST EXON Missense_H48R exm161312 1 235993606 [A/G] NM_000081 LYST EXON Missense_H38Y exm161323 1 236141174 [T/C] NM_002508 NID1 EXON Missense_Q1246R exm161324 1 236141175 [A/G] NM_002508 NID1 EXON Nonsense_Q1246X exm161328 1 236141234 [A/G] NM_002508 NID1 EXON Missense_T1226I exm161331 1 236141259 [T/C] NM_002508 NID1 EXON Missense_G1218S exm161336 1 236142406 [T/C] NM_002508 NID1 EXON Missense_N1171D exm161338 1 236143144 [G/C] NM_002508 NID1 EXON Missense_L1163V exm2232814 1 236143150 [T/G] NM_002508 NID1 EXON Missense_K1161Q exm161341 1 236143189 [T/C] NM_002508 NID1 EXON Missense_E1148K exm161351 1 236143898 [T/C] NM_002508 NID1 EXON Missense_M1095V exm161352 1 236144919 [T/G] NM_002508 NID1 EXON Synonymous_S1073S exm2250900 1 236144919 [T/G] NM_002508 NID1 EXON Synonymous_S1073S exm161363 1 236148787 [T/G] NM_002508 NID1 EXON Missense_L983M exm161364 1 236154186 [T/C] NM_002508 NID1 EXON Synonymous_P976P exm161366 1 236154206 [T/C] NM_002508 NID1 EXON Missense_K970E exm161373 1 236154308 [T/C] NM_002508 NID1 EXON Missense_A936T exm161375 1 236154319 [A/G] NM_002508 NID1 EXON Missense_A932V exm161384 1 236157059 [A/G] NM_002508 NID1 EXON Missense_H881Y exm161389 1 236157113 [T/C] NM_002508 NID1 EXON Missense_T863A exm161395 1 236157150 [G/C] NM_002508 NID1 EXON Missense_Q850H exm161401 1 236175327 [A/C] NM_002508 NID1 EXON Missense_Q807H exm161406 1 236176777 [T/G] NM_002508 NID1 EXON Missense_T780P exm161408 1 236176824 [T/G] NM_002508 NID1 EXON Missense_T764N exm161410 1 236176845 [T/C] NM_002508 NID1 EXON Missense_R757H exm-rs3768080 1 236179869 [A/G] NM_002508 NID1 Silent exm161414 1 236180498 [T/C] NM_002508 NID1 EXON Missense_R735H exm161421 1 236187372 [T/C] NM_002508 NID1 EXON Missense_Y709C exm161422 1 236187393 [T/C] NM_002508 NID1 EXON Missense_R702Q exm161428 1 236187492 [T/C] NM_002508 NID1 EXON Missense_Q669R exm161430 1 236189209 [A/C] NM_002508 NID1 EXON Missense_I657M exm161446 1 236192861 [T/C] NM_002508 NID1 EXON Missense_Y576C exm161448 1 236192895 [T/C] NM_002508 NID1 EXON Missense_V565M exm161455 1 236195702 [A/G] NM_002508 NID1 EXON Synonymous_T512T exm161456 1 236195728 [T/C] NM_002508 NID1 EXON Missense_G504R exm161474 1 236201523 [A/G] NM_002508 NID1 EXON Missense_T389M exm161475 1 236201529 [T/C] NM_002508 NID1 EXON Missense_R387H exm2273756 1 236205413 [A/G] NM_002508 NID1 EXON Missense_T311M exm161490 1 236205440 [T/C] NM_002508 NID1 EXON Missense_R302H exm161492 1 236205449 [A/G] NM_002508 NID1 EXON Missense_A299V exm161501 1 236208773 [T/C] NM_002508 NID1 EXON Missense_V246I exm161509 1 236208871 [T/C] NM_002508 NID1 EXON Missense_N213S exm161516 1 236212037 [T/C] NM_002508 NID1 EXON Missense_V160M exm2250901 1 236212038 [A/G] NM_002508 NID1 EXON Synonymous_S159S exm1769267 1 236212087 [A/G] NM_002508 NID1 EXON Missense_P143L exm161521 1 236212117 [T/C] NM_002508 NID1 EXON Missense_R133Q exm161528 1 236212189 [A/G] NM_002508 NID1 EXON Missense_A109V exm161531 1 236212232 [T/C] NM_002508 NID1 EXON Missense_G95R exm161534 1 236228164 [G/C] NM_002508 NID1 EXON Missense_D72E exm161536 1 236228234 [T/C] NM_002508 NID1 EXON Missense_G49E exm-rs7520258 1 236313127 [T/C] NM_003272 GPR137B Silent exm161563 1 236332046 [T/C] NM_003272 GPR137B EXON Missense_L152P exm161567 1 236341794 [T/C] NM_003272 GPR137B EXON Missense_T182M exm161575 1 236341874 [T/C] NM_003272 GPR137B EXON Missense_L209F exm161581 1 236343282 [A/G] NM_003272 GPR137B EXON Missense_K264R exm161587 1 236347143 [A/G] NM_003272 GPR137B EXON Nonsense_W301X exm161590 1 236347180 [T/C] NM_003272 GPR137B EXON Nonsense_R314X exm161591 1 236347189 [A/C] NM_003272 GPR137B EXON Missense_N317H exm161593 1 236368480 [A/G] NM_003272 GPR137B EXON Missense_D341N exm161594 1 236368510 [A/G] NM_003272 GPR137B EXON Missense_D351N exm161596 1 236371376 [T/G] NM_003272 GPR137B EXON Missense_G373V exm161602 1 236381824 [T/C] NM_019891 ERO1LB EXON Missense_S466G exm161603 1 236381825 [G/C] NM_019891 ERO1LB EXON Missense_H465Q exm161610 1 236384232 [A/G] NM_019891 ERO1LB EXON Missense_F415L exm161617 1 236385276 [T/C] NM_019891 ERO1LB EXON Missense_R386H exm161624 1 236389606 [T/C] NM_019891 ERO1LB EXON Missense_T339A exm1769323 1 236389655 [A/C] NM_019891 ERO1LB EXON Missense_E322D exm161658 1 236406745 [T/C] NM_019891 ERO1LB EXON Missense_R161Q exm161663 1 236413230 [A/T] NM_019891 ERO1LB EXON Missense_D129V exm161669 1 236416732 [C/G] NM_019891 ERO1LB EXON Missense_P99R exm161671 1 236416750 [T/C] NM_019891 ERO1LB EXON Missense_K93R exm161672 1 236416768 [T/C] NM_019891 ERO1LB EXON Missense_D87G exm161676 1 236433208 [T/G] NM_019891 ERO1LB EXON Missense_K63N exm161688 1 236557766 [C/G] NM_145861 EDARADD EXON Missense_Q8E exm161689 1 236557771 [A/G] NM_145861 EDARADD EXON Missense_M9I exm161691 1 236557804 [A/G] NM_145861 EDARADD EXON Synonymous_E20E exm161693 1 236558948 [G/C] NM_145861,NM_080738 EDARADD,EDARADD EXON Silent,Missense_P7A exm161709 1 236645609 [T/C] NM_145861,NM_080738 EDARADD,EDARADD EXON Missense_S103F,Missense_S93F exm161710 1 236645623 [T/C] NM_145861,NM_080738 EDARADD,EDARADD EXON Missense_R108W,Missense_R98W exm161735 1 236700807 [T/A] NM_201545,NM_201543,NM_006499,NM_201544 LGALS8,LGALS8,LGALS8,LGALS8 EXON Missense_F19Y,Missense_F19Y,Missense_F19Y,Missense_F19Y exm161739 1 236700836 [C/G] NM_201545,NM_201543,NM_006499,NM_201544 LGALS8,LGALS8,LGALS8,LGALS8 EXON Missense_P29A,Missense_P29A,Missense_P29A,Missense_P29A exm161740 1 236700857 [T/C] NM_201545,NM_201543,NM_006499,NM_201544 LGALS8,LGALS8,LGALS8,LGALS8 EXON Missense_R36C,Missense_R36C,Missense_R36C,Missense_R36C exm161745 1 236702210 [A/G] NM_201545,NM_201543,NM_006499,NM_201544 LGALS8,LGALS8,LGALS8,LGALS8 EXON Missense_M56V,Missense_M56V,Missense_M56V,Missense_M56V exm1769386 1 236702219 [T/C] NM_201545,NM_201543,NM_006499,NM_201544 LGALS8,LGALS8,LGALS8,LGALS8 EXON Nonsense_R59X,Nonsense_R59X,Nonsense_R59X,Nonsense_R59X exm161766 1 236703922 [T/C] NM_201545,NM_201543,NM_006499,NM_201544 LGALS8,LGALS8,LGALS8,LGALS8 EXON Missense_I135T,Missense_I135T,Missense_I135T,Missense_I135T exm161779 1 236706086 [T/C] NM_201545,NM_201543,NM_006499,NM_201544 LGALS8,LGALS8,LGALS8,LGALS8 EXON Missense_L183P,Missense_L183P,Missense_L183P,Missense_L183P exm161780 1 236706234 [A/G] NM_201545,NM_201543,NM_006499,NM_201544 LGALS8,LGALS8,LGALS8,LGALS8 EXON Missense_D190G,Silent,Missense_D190G,Silent exm161782 1 236706278 [T/G] NM_201545,NM_201543,NM_006499,NM_201544 LGALS8,LGALS8,LGALS8,LGALS8 EXON Missense_D205Y,Silent,Missense_D205Y,Silent exm161785 1 236706300 [A/T] NM_201545,NM_201543,NM_006499,NM_201544 LGALS8,LGALS8,LGALS8,LGALS8 EXON Nonsense_L212X,Silent,Nonsense_L212X,Silent exm161795 1 236706899 [T/C] NM_201545,NM_201543,NM_006499,NM_201544 LGALS8,LGALS8,LGALS8,LGALS8 EXON Missense_P239S,Missense_P197S,Missense_P239S,Missense_P197S exm161808 1 236711344 [T/G] NM_201545,NM_201543,NM_006499,NM_201544 LGALS8,LGALS8,LGALS8,LGALS8 EXON Missense_K321N,Missense_K279N,Missense_K321N,Missense_K279N exm161831 1 236716888 [A/G] NM_018072 HEATR1 EXON Missense_S2077L exm1769433 1 236716900 [A/G] NM_018072 HEATR1 EXON Missense_T2073M exm161835 1 236716934 [A/G] NM_018072 HEATR1 EXON Missense_W2062R exm161842 1 236717926 [T/C] NM_018072 HEATR1 EXON Missense_E2017G exm161843 1 236717941 [T/C] NM_018072 HEATR1 EXON Missense_S2012N exm161847 1 236718052 [A/T] NM_018072 HEATR1 EXON Missense_D1975V exm161851 1 236718620 [T/C] NM_018072 HEATR1 EXON Missense_N1967D exm161856 1 236718925 [T/C] NM_018072 HEATR1 EXON Missense_N1894D exm1769442 1 236719184 [T/C] NM_018072 HEATR1 EXON Missense_K1857R exm161865 1 236719193 [A/G] NM_018072 HEATR1 EXON Missense_V1854A exm161877 1 236720535 [A/G] NM_018072 HEATR1 EXON Missense_P1772L exm1769451 1 236720628 [A/T] NM_018072 HEATR1 EXON Missense_L1741Q exm161890 1 236721600 [A/G] NM_018072 HEATR1 EXON Missense_A1714V exm161895 1 236721660 [T/C] NM_018072 HEATR1 EXON Missense_N1694S exm161896 1 236721679 [G/C] NM_018072 HEATR1 EXON Missense_P1688A exm161897 1 236721700 [A/C] NM_018072 HEATR1 EXON Missense_F1681V exm161900 1 236721745 [T/C] NM_018072 HEATR1 EXON Missense_N1666D exm161902 1 236721780 [T/C] NM_018072 HEATR1 EXON Missense_R1654H exm161904 1 236722318 [T/C] NM_018072 HEATR1 EXON Missense_N1630D exm2250903 1 236723080 [A/G] NM_018072 HEATR1 EXON Synonymous_N1568N exm161922 1 236723108 [T/C] NM_018072 HEATR1 EXON Missense_S1559N exm161928 1 236724529 [T/C] NM_018072 HEATR1 EXON Missense_E1548K exm161930 1 236724559 [T/C] NM_018072 HEATR1 EXON Missense_G1538S exm161945 1 236729956 [T/C] NM_018072 HEATR1 EXON Missense_Y1433C exm161947 1 236729965 [A/G] NM_018072 HEATR1 EXON Missense_A1430V exm161948 1 236729999 [C/G] NM_018072 HEATR1 EXON Missense_L1419V exm161958 1 236730157 [A/G] NM_018072 HEATR1 EXON Missense_I1366T exm161959 1 236730158 [T/C] NM_018072 HEATR1 EXON Missense_I1366V exm161963 1 236732375 [T/C] NM_018072 HEATR1 EXON Missense_N1333S exm161964 1 236732395 [A/C] NM_018072 HEATR1 EXON Missense_I1326M exm1769472 1 236732411 [T/C] NM_018072 HEATR1 EXON Missense_H1321R exm161969 1 236734763 [T/C] NM_018072 HEATR1 EXON Missense_D1279G exm161970 1 236734764 [T/C] NM_018072 HEATR1 EXON Missense_D1279N exm161971 1 236734770 [T/G] NM_018072 HEATR1 EXON Missense_I1277L exm161973 1 236734902 [T/G] NM_018072 HEATR1 EXON Missense_Q1264H exm161974 1 236734925 [T/C] NM_018072 HEATR1 EXON Missense_S1257G exm161976 1 236734939 [T/C] NM_018072 HEATR1 EXON Missense_K1252R exm161979 1 236735823 [T/C] NM_018072 HEATR1 EXON Missense_V1199I exm161991 1 236737983 [A/G] NM_018072 HEATR1 EXON Missense_I1102T exm161992 1 236737999 [T/C] NM_018072 HEATR1 EXON Missense_A1097T exm161999 1 236738150 [C/G] NM_018072 HEATR1 EXON Missense_Q1046H exm162000 1 236738169 [A/T] NM_018072 HEATR1 EXON Missense_Q1040L exm162007 1 236740099 [T/C] NM_018072 HEATR1 EXON Missense_D969G exm162011 1 236740135 [T/C] NM_018072 HEATR1 EXON Missense_D957G exm162013 1 236740169 [T/C] NM_018072 HEATR1 EXON Missense_S946G exm162019 1 236744626 [T/C] NM_018072 HEATR1 EXON Missense_S884N exm2277032 1 236746068 [A/G] NM_018072 HEATR1 EXON Missense_H844Y exm1769513 1 236746126 [C/G] NM_018072 HEATR1 EXON Missense_D824E exm162035 1 236746370 [T/C] NM_018072 HEATR1 EXON Missense_V790I exm162036 1 236746381 [A/G] NM_018072 HEATR1 EXON Missense_S786L exm162039 1 236746426 [T/C] NM_018072 HEATR1 EXON Missense_Y771C exm1769516 1 236748338 [A/G] NM_018072 HEATR1 EXON Missense_V743A exm162045 1 236748386 [A/G] NM_018072 HEATR1 EXON Missense_I727T exm162046 1 236748393 [A/G] NM_018072 HEATR1 EXON Missense_F725L exm162053 1 236748476 [T/C] NM_018072 HEATR1 EXON Missense_N697S exm162057 1 236749128 [A/C] NM_018072 HEATR1 EXON Missense_L681V exm162062 1 236749589 [T/C] NM_018072 HEATR1 EXON Missense_K627E exm1769522 1 236749615 [T/C] NM_018072 HEATR1 EXON Missense_E618G exm162064 1 236749627 [A/G] NM_018072 HEATR1 EXON Missense_T614M exm162065 1 236749649 [T/C] NM_018072 HEATR1 EXON Missense_M607V exm162069 1 236749730 [T/C] NM_018072 HEATR1 EXON Missense_A580T exm162073 1 236750709 [T/C] NM_018072 HEATR1 EXON Missense_G570R exm162080 1 236751262 [T/C] NM_018072 HEATR1 EXON Missense_I538V exm162088 1 236754182 [T/C] NM_018072 HEATR1 EXON Missense_M499V exm162090 1 236754203 [G/C] NM_018072 HEATR1 EXON Missense_A492P exm162094 1 236755340 [T/G] NM_018072 HEATR1 EXON Missense_L459I exm162109 1 236758851 [T/C] NM_018072 HEATR1 EXON Missense_H360R exm162110 1 236758882 [T/C] NM_018072 HEATR1 EXON Missense_M350V exm162111 1 236758887 [T/C] NM_018072 HEATR1 EXON Missense_H348R exm162112 1 236758906 [T/C] NM_018072 HEATR1 EXON Missense_D342N exm162114 1 236758923 [T/C] NM_018072 HEATR1 EXON Missense_G336E exm1769549 1 236758926 [T/C] NM_018072 HEATR1 EXON Missense_H335R exm162120 1 236759302 [T/C] NM_018072 HEATR1 EXON Missense_M263V exm162130 1 236761231 [T/C] NM_018072 HEATR1 EXON Missense_K184E exm162136 1 236762890 [T/C] NM_018072 HEATR1 EXON Missense_I132V exm162158 1 236849999 [A/G] NM_001103 ACTN2 EXON Missense_Q9R exm162167 1 236882283 [A/G] NM_001103 ACTN2 EXON Missense_G111R exm162173 1 236889292 [A/C] NM_001103 ACTN2 EXON Missense_N170H exm162179 1 236894607 [A/T] NM_001103 ACTN2 EXON Missense_D230E exm162190 1 236902618 [A/G] NM_001103 ACTN2 EXON Missense_R298H exm162192 1 236902624 [T/C] NM_001103 ACTN2 EXON Missense_T300M exm162194 1 236902651 [T/C] NM_001103 ACTN2 EXON Missense_P309L exm162210 1 236907962 [T/C] NM_001103 ACTN2 EXON Missense_S431L exm162214 1 236907968 [T/C] NM_001103 ACTN2 EXON Missense_S433L exm2250904 1 236908053 [T/C] NM_001103 ACTN2 EXON Synonymous_I461I exm162229 1 236911044 [T/C] NM_001103 ACTN2 EXON Missense_T495M exm162231 1 236912427 [A/G] NM_001103 ACTN2 EXON Missense_M507V exm2232829 1 236914861 [A/G] NM_001103 ACTN2 EXON Missense_E583G exm162244 1 236914923 [A/G] NM_001103 ACTN2 EXON Missense_M604V exm162248 1 236917271 [A/G] NM_001103 ACTN2 EXON Missense_D622N exm162252 1 236917337 [A/G] NM_001103 ACTN2 EXON Missense_A644T exm162266 1 236918473 [A/G] NM_001103 ACTN2 EXON Missense_N710S exm162269 1 236918491 [T/C] NM_001103 ACTN2 EXON Missense_T716M exm162271 1 236920792 [A/C] NM_001103 ACTN2 EXON Missense_R721S exm162282 1 236924370 [T/C] NM_001103 ACTN2 EXON Missense_T808I exm162295 1 236925836 [A/G] NM_001103 ACTN2 EXON Missense_A868T exm2250905 1 236925844 [A/G] NM_001103 ACTN2 EXON Synonymous_S870S exm162297 1 236925844 [A/G] NM_001103 ACTN2 EXON Synonymous_S870S exm162304 1 236925893 [A/G] NM_001103 ACTN2 EXON Missense_A887T exm162305 1 236925911 [A/G] NM_001103 ACTN2 EXON Missense_D893N exm2265092 1 236926667 [A/G] NM_001103 ACTN2 EXON Silent exm162313 1 236959016 [A/C] NM_000254 MTR EXON Missense_L5I exm162336 1 236973878 [T/C] NM_000254 MTR EXON Missense_P162L exm162348 1 236979764 [A/G] NM_000254 MTR EXON Missense_V229I exm162351 1 236979821 [A/G] NM_000254 MTR EXON Missense_V248M exm162358 1 236990141 [A/G] NM_000254 MTR EXON Missense_D314N exm162360 1 236992526 [A/G] NM_000254 MTR EXON Missense_V345I exm162363 1 236992532 [T/C] NM_000254 MTR EXON Missense_P347S exm162368 1 236995279 [A/C] NM_000254 MTR EXON Missense_F363L exm162372 1 236995331 [A/G] NM_000254 MTR EXON Missense_A381T exm162387 1 237001869 [A/G] NM_000254 MTR EXON Missense_M495I exm1769714 1 237013670 [A/T] NM_000254 MTR EXON Missense_R514S exm162395 1 237016297 [A/G] NM_000254 MTR EXON Missense_D621G exm162398 1 237023161 [T/C] NM_000254 MTR EXON Missense_I661T exm162402 1 237023193 [A/G] NM_000254 MTR EXON Missense_E672K exm162412 1 237025584 [T/C] NM_000254 MTR EXON Missense_P749S exm162418 1 237026770 [T/C] NM_000254 MTR EXON Missense_T774I exm162441 1 237048500 [A/G] NM_000254 MTR EXON Missense_D919G exm162444 1 237049631 [C/G] NM_000254 MTR EXON Missense_G939R exm162451 1 237054460 [T/A] NM_000254 MTR EXON Missense_D1012V exm162452 1 237054504 [T/C] NM_000254 MTR EXON Missense_R1027W exm162464 1 237057679 [T/C] NM_000254 MTR EXON Missense_T1076M exm162467 1 237057789 [A/G] NM_000254 MTR EXON Missense_A1113T exm162477 1 237058743 [A/G] NM_000254 MTR EXON Missense_R1164H exm162483 1 237058835 [A/G] NM_000254 MTR EXON Missense_I1195V exm162486 1 237060372 [A/G] NM_000254 MTR EXON Missense_N1222S exm-rs7554607 1 237266603 [A/G] NM_001035 RYR2 Silent exm2265093 1 237271632 [A/G] NM_001035 RYR2 Silent exm162526 1 237550653 [A/G] NM_001035 RYR2 EXON Missense_I217V exm2232839 1 237586469 [T/C] NM_001035 RYR2 EXON Missense_M309T exm162537 1 237586525 [A/G] NM_001035 RYR2 EXON Missense_A328T exm162543 1 237604748 [A/G] NM_001035 RYR2 EXON Missense_V379M exm162547 1 237604779 [A/G] NM_001035 RYR2 EXON Missense_R389H exm1769846 1 237619934 [A/G] NM_001035 RYR2 EXON Missense_R504H exm162564 1 237619942 [A/G] NM_001035 RYR2 EXON Missense_V507I exm162568 1 237620034 [A/G] NM_001035 RYR2 EXON Synonymous_L537L exm162575 1 237656365 [T/C] NM_001035 RYR2 EXON Missense_R647C exm162590 1 237664196 [A/G] NM_001035 RYR2 EXON Missense_G797R exm2232841 1 237670026 [A/C] NM_001035 RYR2 EXON Missense_H877P exm162602 1 237675024 [A/G] NM_001035 RYR2 EXON Missense_V919M exm162613 1 237711862 [A/G] NM_001035 RYR2 EXON Missense_R1013Q exm162615 1 237713929 [A/G] NM_001035 RYR2 EXON Missense_R1051H exm162618 1 237729882 [T/C] NM_001035 RYR2 EXON Missense_V1077A exm162621 1 237729972 [T/C] NM_001035 RYR2 EXON Missense_T1107M exm162623 1 237730008 [A/G] NM_001035 RYR2 EXON Missense_R1119H exm162624 1 237730013 [C/G] NM_001035 RYR2 EXON Missense_G1121R exm162625 1 237730032 [A/G] NM_001035 RYR2 EXON Missense_E1127G exm162627 1 237730059 [T/C] NM_001035 RYR2 EXON Missense_A1136V exm162637 1 237753215 [A/G] NM_001035 RYR2 EXON Missense_V1241I exm162641 1 237754015 [A/G] NM_001035 RYR2 EXON Missense_S1295G exm162657 1 237755074 [A/C] NM_001035 RYR2 EXON Missense_T1399K exm162659 1 237755076 [A/G] NM_001035 RYR2 EXON Missense_S1400G exm162677 1 237774070 [A/G] NM_001035 RYR2 EXON Missense_M1564I exm162680 1 237774125 [T/C] NM_001035 RYR2 EXON Missense_P1583S exm162695 1 237777689 [C/G] NM_001035 RYR2 EXON Missense_S1754T exm162713 1 237778082 [A/G] NM_001035 RYR2 EXON Missense_G1885E exm162714 1 237778084 [A/G] NM_001035 RYR2 EXON Missense_G1886S exm162717 1 237780626 [A/G] NM_001035 RYR2 EXON Missense_R1919Q exm162774 1 237811896 [A/G] NM_001035 RYR2 EXON Missense_A2499T exm162778 1 237813283 [A/G] NM_001035 RYR2 EXON Missense_H2540R exm2250909 1 237813353 [A/G] NM_001035 RYR2 EXON Synonymous_K2563K exm162779 1 237813353 [A/G] NM_001035 RYR2 EXON Synonymous_K2563K exm162787 1 237819215 [A/G] NM_001035 RYR2 EXON Missense_S2687N exm162788 1 237821259 [T/G] NM_001035 RYR2 EXON Missense_E2715D exm162789 1 237821276 [T/C] NM_001035 RYR2 EXON Missense_I2721T exm162802 1 237841390 [A/G] NM_001035 RYR2 EXON Missense_Q2958R exm162821 1 237868623 [A/G] NM_001035 RYR2 EXON Missense_K3187R exm162831 1 237870447 [A/G] NM_001035 RYR2 EXON Missense_R3260Q exm162837 1 237872179 [A/G] NM_001035 RYR2 EXON Missense_N3308S exm162841 1 237872286 [A/G] NM_001035 RYR2 EXON Missense_A3344T exm162855 1 237880555 [A/G] NM_001035 RYR2 EXON Missense_M3461V exm162859 1 237881795 [A/C] NM_001035 RYR2 EXON Missense_R3510S exm-rs2819770 1 237911004 [T/C] NM_001035 RYR2 Silent exm2250912 1 237921596 [T/C] NM_001035 RYR2 Silent exm162914 1 237947854 [T/C] NM_001035 RYR2 EXON Missense_T4281M exm162916 1 237947931 [T/C] NM_001035 RYR2 EXON Missense_R4307C exm-rs2819742 1 237990122 [A/G] NM_001035 RYR2 Silent exm162965 1 238045834 [A/G] NR_027247,NM_021186 LOC100130331,ZP4 EXON Silent,Missense_S504L exm162969 1 238046056 [A/G] NR_027247,NM_021186 LOC100130331,ZP4 EXON Silent,Missense_P494L exm162975 1 238046129 [T/G] NR_027247,NM_021186 LOC100130331,ZP4 EXON Silent,Missense_N470H exm162976 1 238048069 [A/G] NR_027247,NM_021186 LOC100130331,ZP4 EXON Silent,Nonsense_R464X exm162978 1 238048101 [A/G] NR_027247,NM_021186 LOC100130331,ZP4 EXON Silent,Missense_P453L exm162980 1 238048466 [A/G] NR_027247,NM_021186 LOC100130331,ZP4 EXON Silent,Missense_P437L exm162989 1 238048569 [A/G] NR_027247,NM_021186 LOC100130331,ZP4 EXON Silent,Nonsense_Q403X exm162999 1 238048809 [T/C] NR_027247,NM_021186 LOC100130331,ZP4 EXON Silent,Missense_V348M exm163005 1 238049083 [A/G] NR_027247,NM_021186 LOC100130331,ZP4 EXON Silent,Missense_L315F exm163009 1 238049140 [T/C] NR_027247,NM_021186 LOC100130331,ZP4 EXON Silent,Missense_I296V exm163010 1 238049143 [A/G] NR_027247,NM_021186 LOC100130331,ZP4 EXON Silent,Missense_P295S exm163012 1 238049149 [A/G] NR_027247,NM_021186 LOC100130331,ZP4 EXON Silent,Missense_S293P exm163015 1 238050081 [T/C] NR_027247,NM_021186 LOC100130331,ZP4 EXON Silent,Missense_S277G exm163020 1 238050120 [T/C] NR_027247,NM_021186 LOC100130331,ZP4 EXON Silent,Missense_D264N exm163021 1 238050122 [T/C] NR_027247,NM_021186 LOC100130331,ZP4 EXON Silent,Missense_R263K exm163023 1 238050155 [T/C] NR_027247,NM_021186 LOC100130331,ZP4 EXON Silent,Missense_R252Q exm163026 1 238050690 [T/C] NR_027247,NM_021186 LOC100130331,ZP4 EXON Silent,Missense_C242Y exm1770065 1 238050750 [T/G] NR_027247,NM_021186 LOC100130331,ZP4 EXON Silent,Missense_A222E exm163034 1 238050801 [A/G] NR_027247,NM_021186 LOC100130331,ZP4 EXON Silent,Missense_S205L exm163035 1 238050813 [T/C] NR_027247,NM_021186 LOC100130331,ZP4 EXON Silent,Missense_R201Q exm163036 1 238050843 [T/C] NR_027247,NM_021186 LOC100130331,ZP4 EXON Silent,Missense_R191Q exm163040 1 238051766 [A/G] NR_027247,NM_021186 LOC100130331,ZP4 EXON Silent,Missense_R149W exm1770073 1 238051793 [T/C] NR_027247,NM_021186 LOC100130331,ZP4 EXON Silent,Missense_T140A exm2232852 1 238051808 [A/G] NR_027247,NM_021186 LOC100130331,ZP4 EXON Silent,Nonsense_R135X exm163043 1 238053179 [T/C] NR_027247,NM_021186 LOC100130331,ZP4 EXON Silent,Missense_M130V exm163045 1 238053226 [A/G] NR_027247,NM_021186 LOC100130331,ZP4 EXON Silent,Missense_A114V exm163046 1 238053227 [T/C] NR_027247,NM_021186 LOC100130331,ZP4 EXON Silent,Missense_A114T exm1770077 1 238053235 [C/G] NR_027247,NM_021186 LOC100130331,ZP4 EXON Silent,Missense_G111A exm163048 1 238053368 [T/C] NR_027247,NM_021186 LOC100130331,ZP4 EXON Silent,Missense_Y95C exm163058 1 238053787 [A/G] NR_027247,NM_021186 LOC100130331,ZP4 EXON Silent,Missense_T50M exm163060 1 238053817 [T/G] NR_027247,NM_021186 LOC100130331,ZP4 EXON Silent,Missense_Q40P exm163064 1 238053873 [A/T] NR_027247,NM_021186 LOC100130331,ZP4 EXON Silent,Missense_H21Q exm-rs2499604 1 238103501 [T/C] exm2265094 1 238270039 [A/G] exm2268849 1 238716872 [T/G] exm2260055 1 239144913 [A/G] exm2250922 1 239329782 [T/G] exm-rs2820037 1 239436542 [T/A] exm-rs6677208 1 239601969 [A/C] exm2264971 1 240065644 [A/G] NM_000740 CHRM3 Silent exm1770297 1 240070760 [A/G] NM_000740 CHRM3 EXON Synonymous_L3L exm163076 1 240070829 [T/G] NM_000740 CHRM3 EXON Missense_D26E exm163083 1 240070944 [A/G] NM_000740 CHRM3 EXON Missense_V65I exm163095 1 240071602 [T/C] NM_000740 CHRM3 EXON Missense_T284M exm163105 1 240071937 [A/C] NM_000740 CHRM3 EXON Missense_L396M exm163109 1 240071991 [A/G] NM_000740 CHRM3 EXON Missense_V414M exm163112 1 240072040 [A/G] NM_000740 CHRM3 EXON Missense_Q430R exm163113 1 240072043 [T/C] NM_000740 CHRM3 EXON Missense_L431P exm163114 1 240072054 [A/G] NM_000740 CHRM3 EXON Missense_V435M exm163117 1 240072082 [A/C] NM_000740 CHRM3 EXON Missense_N444T exm163128 1 240072322 [T/C] NM_000740 CHRM3 EXON Missense_T524I exm163132 1 240072504 [A/G] NM_000740 CHRM3 EXON Missense_A585T exm163172 1 240255940 [A/G] NM_020066 FMN2 EXON Synonymous_S177S exm2250930 1 240255940 [A/G] NM_020066 FMN2 EXON Synonymous_S177S exm163197 1 240256638 [T/C] NM_020066 FMN2 EXON Missense_P410L exm163202 1 240256767 [A/G] NM_020066 FMN2 EXON Missense_R453Q exm163204 1 240256781 [A/G] NM_020066 FMN2 EXON Missense_A458T exm163233 1 240351534 [T/C] NM_020066 FMN2 EXON Missense_P653L exm163247 1 240370312 [T/C] NM_020066 FMN2 EXON Missense_R734W exm163248 1 240370313 [A/G] NM_020066 FMN2 EXON Missense_R734Q exm163259 1 240370583 [A/G] NM_020066 FMN2 EXON Missense_Q824R exm163266 1 240370684 [A/C] NM_020066 FMN2 EXON Missense_P858T exm163267 1 240370687 [T/C] NM_020066 FMN2 EXON Missense_P859S exm163268 1 240370702 [A/G] NM_020066 FMN2 EXON Missense_T864A exm163269 1 240370736 [T/C] NM_020066 FMN2 EXON Missense_M875T exm163455 1 240371821 [G/C] NM_020066 FMN2 EXON Missense_L1237V exm163459 1 240371906 [T/C] NM_020066 FMN2 EXON Missense_P1265L exm163460 1 240371925 [T/G] NM_020066 FMN2 EXON Missense_L1271F exm-rs17672135 1 240445596 [T/C] NM_020066 FMN2 Silent exm-rs10754697 1 240453628 [A/G] NM_020066 FMN2 Silent exm163482 1 240492734 [A/G] NM_020066 FMN2 EXON Missense_R1468H exm163486 1 240497221 [T/C] NM_020066 FMN2 EXON Missense_S1540L exm163518 1 240656550 [C/G] NM_022469 GREM2 EXON Missense_Q76E exm1770471 1 240656720 [A/G] NM_022469 GREM2 EXON Missense_A19V exm2264972 1 240694114 [A/G] NM_022469 GREM2 Silent exm2260060 1 240742905 [T/G] NM_022469 GREM2 Silent exm2250934 1 240869087 [A/G] exm163534 1 240964766 [T/C] NM_002924 RGS7 EXON Missense_A468T exm163536 1 240964793 [T/C] NM_002924 RGS7 EXON Missense_D459N exm163584 1 241262028 [T/C] NM_002924 RGS7 EXON Missense_K38R exm2264974 1 241542793 [A/G] exm163604 1 241665852 [T/G] NM_000143 FH EXON Missense_Q376P exm163613 1 241669324 [T/C] NM_000143 FH EXON Missense_A295T exm2273760 1 241676979 [T/C] NM_000143 FH EXON Missense_R101Q exm163643 1 241695758 [T/C] NM_003679 KMO EXON Missense_V5A exm163644 1 241695784 [A/G] NM_003679 KMO EXON Missense_I14V exm163653 1 241712992 [A/C] NM_003679 KMO EXON Missense_T47N exm2250938 1 241725512 [T/A] NM_003679 KMO EXON Synonymous_G165G exm163675 1 241729855 [A/G] NM_003679 KMO EXON Missense_N251S exm163688 1 241753378 [T/C] NM_003679 KMO EXON Missense_A388V exm2250939 1 241753394 [A/C] NM_003679 KMO EXON Synonymous_T393T exm163697 1 241753546 [A/G] NM_003679 KMO EXON Missense_R414H exm1770862 1 241755320 [A/G] NM_003679 KMO EXON Missense_I442M exm163701 1 241755348 [T/C] NM_003679 KMO EXON Missense_R452C exm163702 1 241755349 [A/G] NM_003679 KMO EXON Missense_R452H exm163708 1 241755414 [A/G] NM_003679 KMO EXON Missense_V474M exm163711 1 241755439 [A/G] NM_003679 KMO EXON Missense_N482S exm163712 1 241755453 [T/C] NM_003679 KMO EXON Missense_X487R exm163721 1 241757789 [T/C] NM_003679,NM_014322 KMO,OPN3 EXON Silent,Missense_D384N exm1770870 1 241757947 [T/C] NM_003679,NM_014322 KMO,OPN3 EXON Silent,Missense_C331Y exm163727 1 241757989 [T/C] NM_003679,NM_014322 KMO,OPN3 EXON Silent,Missense_R317Q exm163730 1 241761077 [G/C] NM_014322 OPN3 EXON Missense_P306A exm163736 1 241761225 [T/C] NM_014322 OPN3 EXON Missense_M256I exm163741 1 241767627 [A/G] NM_014322 OPN3 EXON Missense_C210R exm163747 1 241767708 [T/C] NM_014322 OPN3 EXON Missense_V183I exm163748 1 241767722 [G/C] NM_014322 OPN3 EXON Missense_R178T exm1770878 1 241767854 [A/G] NM_014322 OPN3 EXON Missense_V134A exm163756 1 241797175 [T/G] NM_014322,NM_001821 OPN3,CHML EXON Silent,Missense_N632H exm163766 1 241797600 [T/C] NM_014322,NM_001821 OPN3,CHML EXON Silent,Missense_R490Q exm163774 1 241797819 [T/C] NM_014322,NM_001821 OPN3,CHML EXON Silent,Missense_R417Q exm163775 1 241797835 [T/C] NM_014322,NM_001821 OPN3,CHML EXON Silent,Missense_D412N exm163778 1 241797856 [T/C] NM_014322,NM_001821 OPN3,CHML EXON Silent,Missense_K405E exm163782 1 241797963 [T/C] NM_014322,NM_001821 OPN3,CHML EXON Silent,Missense_R369Q exm163784 1 241797975 [T/C] NM_014322,NM_001821 OPN3,CHML EXON Silent,Missense_Q365R exm163786 1 241798007 [T/C] NM_014322,NM_001821 OPN3,CHML EXON Silent,Missense_I354M exm163791 1 241798059 [T/C] NM_014322,NM_001821 OPN3,CHML EXON Silent,Missense_H337R exm163808 1 241798302 [T/G] NM_014322,NM_001821 OPN3,CHML EXON Silent,Missense_Y256S exm163809 1 241798305 [T/C] NM_014322,NM_001821 OPN3,CHML EXON Silent,Missense_R255H exm163814 1 241798443 [A/G] NM_014322,NM_001821 OPN3,CHML EXON Silent,Missense_A209V exm163815 1 241798451 [T/G] NM_014322,NM_001821 OPN3,CHML EXON Silent,Missense_E206D exm163821 1 241798684 [T/C] NM_014322,NM_001821 OPN3,CHML EXON Silent,Missense_N129D exm163835 1 241799029 [T/C] NM_014322,NM_001821 OPN3,CHML EXON Silent,Missense_I14V exm1770895 1 241799058 [T/C] NM_014322,NM_001821 OPN3,CHML EXON Silent,Missense_N4S exm163837 1 241799064 [A/G] NM_014322,NM_001821 OPN3,CHML EXON Silent,Missense_A2V exm163855 1 241823862 [T/C] NM_144625 WDR64 EXON Missense_S59L exm163858 1 241823909 [C/G] NM_144625 WDR64 EXON Missense_R75G exm163859 1 241823930 [A/G] NM_144625 WDR64 EXON Missense_N82D exm163864 1 241842832 [T/C] NM_144625 WDR64 EXON Nonsense_R177X exm163876 1 241850851 [A/G] NM_144625 WDR64 EXON Missense_N300D exm163880 1 241875105 [A/C] NM_144625 WDR64 EXON Missense_P316T exm-rs12569163 1 241878547 [T/G] NM_144625 WDR64 Silent exm163888 1 241886645 [C/G] NM_144625 WDR64 EXON Missense_K357N exm163896 1 241886740 [T/A] NM_144625 WDR64 Silent exm163914 1 241907779 [A/G] NM_144625 WDR64 EXON Missense_D509N exm163917 1 241907817 [T/C] NM_144625 WDR64 EXON Synonymous_N521N exm163922 1 241912941 [T/C] NM_144625 WDR64 EXON Missense_R553C exm163925 1 241920634 [T/C] NM_144625 WDR64 EXON Missense_V597A exm163933 1 241920761 [T/C] NM_144625 WDR64 EXON Synonymous_D639D exm163935 1 241929542 [A/G] NM_144625 WDR64 EXON Missense_R647Q exm163936 1 241929590 [T/C] NM_144625 WDR64 EXON Missense_A663V exm163953 1 241946599 [A/G] NM_144625 WDR64 EXON Missense_R864H exm2250941 1 241946766 [A/C] NM_144625 WDR64 Silent exm1770949 1 241951305 [T/C] NM_144625 WDR64 EXON Missense_Y944H exm163968 1 241951329 [T/C] NM_144625 WDR64 EXON Missense_R952W exm163972 1 241958512 [T/C] NM_144625 WDR64 EXON Nonsense_R991X exm163973 1 241958513 [A/G] NM_144625 WDR64 EXON Missense_R991Q exm163975 1 241958518 [T/C] NM_144625 WDR64 EXON Missense_Y993H exm163984 1 241959601 [A/G] NM_144625 WDR64 EXON Missense_V1031I exm163989 1 241964468 [T/C] NM_144625 WDR64 EXON Missense_V1066A exm163990 1 241964517 [A/C] NM_144625 WDR64 EXON Missense_X1082Y exm2232887 1 242012033 [A/G] NM_130398,NM_006027,NM_003686 EXO1,EXO1,EXO1 EXON Silent,Silent,Silent exm164003 1 242015658 [A/G] NM_130398,NM_006027,NM_003686 EXO1,EXO1,EXO1 EXON Missense_V76I,Missense_V76I,Missense_V76I exm164007 1 242015699 [G/C] NM_130398,NM_006027,NM_003686 EXO1,EXO1,EXO1 EXON Missense_E89D,Missense_E89D,Missense_E89D exm164009 1 242015709 [A/G] NM_130398,NM_006027,NM_003686 EXO1,EXO1,EXO1 EXON Missense_R93G,Missense_R93G,Missense_R93G exm164012 1 242016703 [A/G] NM_130398,NM_006027,NM_003686 EXO1,EXO1,EXO1 EXON Missense_E109K,Missense_E109K,Missense_E109K exm164021 1 242020650 [T/G] NM_130398,NM_006027,NM_003686 EXO1,EXO1,EXO1 EXON Missense_A137S,Missense_A137S,Missense_A137S exm164023 1 242020670 [A/T] NM_130398,NM_006027,NM_003686 EXO1,EXO1,EXO1 EXON Missense_D143E,Missense_D143E,Missense_D143E exm164026 1 242020713 [G/C] NM_130398,NM_006027,NM_003686 EXO1,EXO1,EXO1 EXON Missense_L158V,Missense_L158V,Missense_L158V exm164029 1 242020734 [A/C] NM_130398,NM_006027,NM_003686 EXO1,EXO1,EXO1 EXON Missense_Q165K,Missense_Q165K,Missense_Q165K exm164034 1 242022009 [A/G] NM_130398,NM_006027,NM_003686 EXO1,EXO1,EXO1 EXON Missense_D249N,Missense_D249N,Missense_D249N exm164038 1 242023871 [T/A] NM_130398,NM_006027,NM_003686 EXO1,EXO1,EXO1 EXON Missense_D270V,Missense_D270V,Missense_D270V exm164039 1 242023882 [A/G] NM_130398,NM_006027,NM_003686 EXO1,EXO1,EXO1 EXON Missense_G274R,Missense_G274R,Missense_G274R exm164041 1 242023898 [A/G] NM_130398,NM_006027,NM_003686 EXO1,EXO1,EXO1 EXON Missense_N279S,Missense_N279S,Missense_N279S exm164045 1 242023971 [T/G] NM_130398,NM_006027,NM_003686 EXO1,EXO1,EXO1 EXON Missense_D303E,Missense_D303E,Missense_D303E exm164055 1 242030151 [A/G] NM_130398,NM_006027,NM_003686 EXO1,EXO1,EXO1 EXON Missense_H354R,Missense_H354R,Missense_H354R exm1771010 1 242030171 [A/T] NM_130398,NM_006027,NM_003686 EXO1,EXO1,EXO1 EXON Missense_C361S,Missense_C361S,Missense_C361S exm164057 1 242030207 [A/G] NM_130398,NM_006027,NM_003686 EXO1,EXO1,EXO1 EXON Missense_R373G,Missense_R373G,Missense_R373G exm164063 1 242030355 [A/G] NM_130398,NM_006027,NM_003686 EXO1,EXO1,EXO1 EXON Missense_S422N,Missense_S422N,Missense_S422N exm164065 1 242035334 [A/C] NM_130398,NM_006027,NM_003686 EXO1,EXO1,EXO1 EXON Missense_A423E,Missense_A423E,Missense_A423E exm164066 1 242035382 [T/C] NM_130398,NM_006027,NM_003686 EXO1,EXO1,EXO1 EXON Missense_T439M,Missense_T439M,Missense_T439M exm164067 1 242035403 [A/G] NM_130398,NM_006027,NM_003686 EXO1,EXO1,EXO1 EXON Missense_S446N,Missense_S446N,Missense_S446N exm164068 1 242035430 [T/C] NM_130398,NM_006027,NM_003686 EXO1,EXO1,EXO1 EXON Missense_F455S,Missense_F455S,Missense_F455S exm164069 1 242035433 [A/C] NM_130398,NM_006027,NM_003686 EXO1,EXO1,EXO1 EXON Missense_S456Y,Missense_S456Y,Missense_S456Y exm164070 1 242035438 [A/G] NM_130398,NM_006027,NM_003686 EXO1,EXO1,EXO1 EXON Missense_V458M,Missense_V458M,Missense_V458M exm164072 1 242035444 [C/G] NM_130398,NM_006027,NM_003686 EXO1,EXO1,EXO1 EXON Missense_V460L,Missense_V460L,Missense_V460L exm164077 1 242035514 [T/G] NM_130398,NM_006027,NM_003686 EXO1,EXO1,EXO1 EXON Missense_F483C,Missense_F483C,Missense_F483C exm164088 1 242042205 [T/C] NM_130398,NM_006027,NM_003686 EXO1,EXO1,EXO1 EXON Missense_R557C,Missense_R557C,Missense_R557C exm164089 1 242042206 [A/G] NM_130398,NM_006027,NM_003686 EXO1,EXO1,EXO1 EXON Missense_R557H,Missense_R557H,Missense_R557H exm164096 1 242042301 [A/G] NM_130398,NM_006027,NM_003686 EXO1,EXO1,EXO1 EXON Missense_E589K,Missense_E589K,Missense_E589K exm164099 1 242042337 [A/G] NM_130398,NM_006027,NM_003686 EXO1,EXO1,EXO1 EXON Missense_T601A,Missense_T601A,Missense_T601A exm164101 1 242042364 [A/G] NM_130398,NM_006027,NM_003686 EXO1,EXO1,EXO1 EXON Missense_S610G,Missense_S610G,Missense_S610G exm164105 1 242042437 [A/G] NM_130398,NM_006027,NM_003686 EXO1,EXO1,EXO1 EXON Missense_R634Q,Missense_R634Q,Missense_R634Q exm2275554 1 242042454 [C/G] NM_130398,NM_006027,NM_003686 EXO1,EXO1,EXO1 EXON Missense_P640A,Missense_P640A,Missense_P640A exm164106 1 242042466 [T/C] NM_130398,NM_006027,NM_003686 EXO1,EXO1,EXO1 EXON Missense_P644S,Missense_P644S,Missense_P644S exm164110 1 242042505 [A/G] NM_130398,NM_006027,NM_003686 EXO1,EXO1,EXO1 EXON Missense_E657K,Missense_E657K,Missense_E657K exm164114 1 242042545 [A/G] NM_130398,NM_006027,NM_003686 EXO1,EXO1,EXO1 EXON Missense_E670G,Missense_E670G,Missense_E670G exm164118 1 242045260 [T/C] NM_130398,NM_006027,NM_003686 EXO1,EXO1,EXO1 EXON Nonsense_Q718X,Nonsense_Q718X,Nonsense_Q718X exm164127 1 242048674 [T/C] NM_130398,NM_006027,NM_003686 EXO1,EXO1,EXO1 EXON Missense_P757L,Missense_P757L,Missense_P757L exm164128 1 242048680 [A/G] NM_130398,NM_006027,NM_003686 EXO1,EXO1,EXO1 EXON Missense_G759E,Missense_G759E,Missense_G759E exm164129 1 242048713 [T/C] NM_130398,NM_006027,NM_003686 EXO1,EXO1,EXO1 EXON Missense_P770L,Missense_P770L,Missense_P770L exm164131 1 242052841 [T/C] NM_130398,NM_006027,NM_003686 EXO1,EXO1,EXO1 EXON Missense_A827V,Missense_A827V,Silent exm2273350 1 242053042 [A/G] NM_130398,NM_006027,NM_003686 EXO1,EXO1,EXO1 EXON Silent,Silent,Silent exm164145 1 242159566 [T/C] NM_001004343 MAP1LC3C EXON Missense_V115M exm164146 1 242159614 [T/C] NM_001004343 MAP1LC3C EXON Missense_A99T exm164155 1 242162132 [T/G] NM_001004343 MAP1LC3C EXON Synonymous_A20A exm164166 1 242253166 [T/C] NM_001195811,NM_001195812,NM_152666 PLD5,PLD5,PLD5 EXON Missense_R472Q,Missense_R326Q,Missense_R534Q exm164170 1 242253188 [T/C] NM_001195811,NM_001195812,NM_152666 PLD5,PLD5,PLD5 EXON Missense_D465N,Missense_D319N,Missense_D527N exm164188 1 242277253 [T/C] NM_001195811,NM_001195812,NM_152666 PLD5,PLD5,PLD5 EXON Missense_K275E,Missense_K129E,Missense_K337E exm164233 1 242383388 [T/C] NM_001195811,NM_001195812,NM_152666 PLD5,PLD5,PLD5 EXON Missense_A151T,Missense_A5T,Missense_A213T exm164238 1 242428640 [T/C] NM_001195811,NM_001195812,NM_152666 PLD5,PLD5,PLD5 EXON Synonymous_K140K,Silent,Synonymous_K202K exm164241 1 242428735 [G/C] NM_001195811,NM_001195812,NM_152666 PLD5,PLD5,PLD5 EXON Missense_E109Q,Silent,Missense_E171Q exm2268985 1 242431557 [T/C] NM_001195811,NM_001195812,NM_152666 PLD5,PLD5,PLD5 Silent,Silent,Silent exm2264975 1 242545875 [A/G] NM_001195811,NM_001195812,NM_152666 PLD5,PLD5,PLD5 Silent,Silent,Silent exm164247 1 242687390 [A/G] NM_152666 PLD5 EXON Synonymous_H63H exm2268851 1 242881598 [T/C] exm2268986 1 243070467 [T/C] exm164272 1 243319701 [A/G] NM_001042405,NM_014812,NM_001042404 CEP170,CEP170,CEP170 EXON Silent,Missense_F1245L,Missense_F1147L exm164276 1 243327736 [T/C] NM_001042405,NM_014812,NM_001042404 CEP170,CEP170,CEP170 EXON Missense_A1078T,Missense_A1176T,Missense_A1078T exm164301 1 243329049 [A/G] NM_001042405,NM_014812,NM_001042404 CEP170,CEP170,CEP170 EXON Missense_T640I,Missense_T738I,Missense_T640I exm164323 1 243349655 [T/C] NM_001042405,NM_014812,NM_001042404 CEP170,CEP170,CEP170 EXON Missense_R393H,Missense_R393H,Missense_R393H exm164324 1 243349667 [T/C] NM_001042405,NM_014812,NM_001042404 CEP170,CEP170,CEP170 EXON Missense_R389H,Missense_R389H,Missense_R389H exm2264976 1 243385307 [A/G] NM_001042405,NM_014812,NM_001042404 CEP170,CEP170,CEP170 Silent,Silent,Silent exm164349 1 243434296 [T/A] NM_006642 SDCCAG8 EXON Missense_D79E exm164354 1 243434337 [T/C] NM_006642 SDCCAG8 EXON Missense_P93L exm2250950 1 243437886 [T/C] NM_006642 SDCCAG8 EXON Synonymous_H116H exm164359 1 243437886 [T/C] NM_006642 SDCCAG8 EXON Synonymous_H116H exm164373 1 243456418 [T/C] NM_006642 SDCCAG8 EXON Missense_T191I exm164385 1 243471328 [G/C] NM_006642 SDCCAG8 EXON Missense_L260V exm164389 1 243471416 [A/G] NM_006642 SDCCAG8 EXON Missense_H289R exm164393 1 243471475 [A/G] NM_006642 SDCCAG8 EXON Missense_V309I exm164396 1 243480091 [A/G] NM_006642 SDCCAG8 EXON Missense_V322I exm164397 1 243480113 [T/C] NM_006642 SDCCAG8 EXON Missense_T329M exm1771270 1 243493867 [A/G] NM_006642 SDCCAG8 EXON Missense_R365K exm1771271 1 243493888 [G/C] NM_006642 SDCCAG8 EXON Missense_A372G exm164412 1 243507540 [C/G] NM_006642 SDCCAG8 EXON Missense_Q460H exm164414 1 243507569 [A/G] NM_006642 SDCCAG8 EXON Missense_E470G exm2232895 1 243507583 [T/C] NM_006642 SDCCAG8 EXON Missense_H475Y exm164416 1 243542050 [G/C] NM_006642 SDCCAG8 EXON Missense_D501H exm164432 1 243589811 [A/G] NM_006642 SDCCAG8 EXON Missense_E646K exm-rs4132509 1 243943084 [A/C] NM_181690,NM_005465,NM_001206729 AKT3,AKT3,AKT3 Silent,Silent,Silent exm2268987 1 243995041 [T/C] NM_181690,NM_005465,NM_001206729 AKT3,AKT3,AKT3 Silent,Silent,Silent exm2268852 1 244091316 [T/C] NR_033883 LOC339529 Silent exm-rs10927101 1 244173872 [A/C] NR_033883 LOC339529 Silent exm-rs476141 1 244176424 [T/G] NR_033883 LOC339529 Silent exm164508 1 244217949 [C/G] NM_205768,NM_006352 ZBTB18,ZBTB18 EXON Missense_E291D,Missense_E282D exm2250957 1 244334507 [T/C] exm164545 1 244528016 [A/G] NM_001012970,NM_001276349,NM_001276348 C1orf100,C1orf100,C1orf100 EXON Missense_R5Q,Missense_R5Q,Missense_R5Q exm164546 1 244528021 [T/C] NM_001012970,NM_001276349,NM_001276348 C1orf100,C1orf100,C1orf100 EXON Nonsense_R7X,Nonsense_R7X,Nonsense_R7X exm164547 1 244528037 [A/G] NM_001012970,NM_001276349,NM_001276348 C1orf100,C1orf100,C1orf100 EXON Missense_R12H,Missense_R12H,Missense_R12H exm164550 1 244538684 [A/G] NM_001012970,NM_001276349,NM_001276348 C1orf100,C1orf100,C1orf100 EXON Missense_A23T,Missense_A23T,Missense_A23T exm164551 1 244538685 [T/C] NM_001012970,NM_001276349,NM_001276348 C1orf100,C1orf100,C1orf100 EXON Missense_A23V,Missense_A23V,Missense_A23V exm164552 1 244538691 [A/G] NM_001012970,NM_001276349,NM_001276348 C1orf100,C1orf100,C1orf100 EXON Missense_Q25R,Missense_Q25R,Missense_Q25R exm164554 1 244538702 [A/G] NM_001012970,NM_001276349,NM_001276348 C1orf100,C1orf100,C1orf100 EXON Missense_V29I,Missense_V29I,Missense_V29I exm164557 1 244541771 [T/C] NM_001012970,NM_001276349,NM_001276348 C1orf100,C1orf100,C1orf100 EXON Missense_P52L,Silent,Silent exm164559 1 244541773 [T/C] NM_001012970,NM_001276349,NM_001276348 C1orf100,C1orf100,C1orf100 EXON Missense_L53F,Silent,Silent exm164561 1 244541827 [C/G] NM_001012970,NM_001276349,NM_001276348 C1orf100,C1orf100,C1orf100 EXON Missense_D71H,Silent,Silent exm164574 1 244552355 [T/C] NM_001012970,NM_001276349,NM_001276348 C1orf100,C1orf100,C1orf100 EXON Missense_A143V,Silent,Missense_A111V exm164579 1 244574657 [A/G] NM_001126 ADSS EXON Missense_A417V exm164582 1 244579342 [A/G] NM_001126 ADSS EXON Missense_T370M exm164587 1 244582097 [T/C] NM_001126 ADSS EXON Missense_V304I exm164592 1 244583585 [T/C] NM_001126 ADSS EXON Missense_K226R exm164627 1 244627212 [T/A] NM_001242340,NM_173807,NM_001130957 C1orf101,C1orf101,C1orf101 EXON Silent,Missense_Y23F,Missense_Y23F exm164629 1 244627236 [A/G] NM_001242340,NM_173807,NM_001130957 C1orf101,C1orf101,C1orf101 EXON Silent,Missense_R31H,Missense_R31H exm164635 1 244641216 [A/C] NM_001242340,NM_173807,NM_001130957 C1orf101,C1orf101,C1orf101 EXON Silent,Missense_T66K,Missense_T66K exm164637 1 244641228 [A/G] NM_001242340,NM_173807,NM_001130957 C1orf101,C1orf101,C1orf101 EXON Silent,Missense_R70H,Missense_R70H exm164644 1 244643073 [T/C] NM_001242340,NM_173807,NM_001130957 C1orf101,C1orf101,C1orf101 EXON Silent,Missense_Y105H,Missense_Y105H exm164647 1 244653748 [G/C] NM_001242340,NM_173807,NM_001130957 C1orf101,C1orf101,C1orf101 Silent,Silent,Silent exm164661 1 244715677 [A/G] NM_001242340,NM_173807,NM_001130957 C1orf101,C1orf101,C1orf101 EXON Missense_R46K,Missense_R197K,Missense_R197K exm164672 1 244716029 [A/G] NM_001242340,NM_173807,NM_001130957 C1orf101,C1orf101,C1orf101 EXON Missense_I163M,Missense_I314M,Missense_I314M exm164678 1 244723989 [A/C] NM_001242340,NM_173807,NM_001130957 C1orf101,C1orf101,C1orf101 EXON Missense_T199N,Missense_T350N,Missense_T350N exm164689 1 244724234 [T/G] NM_001242340,NM_173807,NM_001130957 C1orf101,C1orf101,C1orf101 EXON Missense_V281F,Missense_V432F,Missense_V432F exm164690 1 244724264 [A/G] NM_001242340,NM_173807,NM_001130957 C1orf101,C1orf101,C1orf101 EXON Missense_I291V,Missense_I442V,Missense_I442V exm164691 1 244724277 [T/C] NM_001242340,NM_173807,NM_001130957 C1orf101,C1orf101,C1orf101 EXON Missense_T295I,Missense_T446I,Missense_T446I exm164699 1 244735812 [T/C] NM_001242340,NM_173807,NM_001130957 C1orf101,C1orf101,C1orf101 EXON Missense_I412T,Missense_I563T,Missense_I563T exm164708 1 244735998 [A/C] NM_001242340,NM_173807,NM_001130957 C1orf101,C1orf101,C1orf101 EXON Missense_S474Y,Missense_S625Y,Missense_S625Y exm164709 1 244736013 [T/C] NM_001242340,NM_173807,NM_001130957 C1orf101,C1orf101,C1orf101 EXON Missense_I479T,Missense_I630T,Missense_I630T exm164711 1 244745107 [T/C] NM_001242340,NM_173807,NM_001130957 C1orf101,C1orf101,C1orf101 EXON Missense_F503L,Missense_F654L,Missense_F654L exm164723 1 244755023 [A/G] NM_001242340,NM_173807,NM_001130957 C1orf101,C1orf101,C1orf101 EXON Missense_V576M,Missense_V727M,Missense_V727M exm164724 1 244756720 [C/G] NM_001242340,NM_173807,NM_001130957 C1orf101,C1orf101,C1orf101 EXON Missense_S587W,Missense_S738W,Missense_S738W exm164734 1 244773590 [A/C] NM_001242340,NM_173807,NM_001130957 C1orf101,C1orf101,C1orf101 EXON Missense_N667H,Missense_N818H,Missense_N818H exm164738 1 244803264 [A/G] NM_001242340,NM_173807,NM_001130957 C1orf101,C1orf101,C1orf101 EXON Missense_V762I,Silent,Missense_V913I exm164754 1 244869045 [T/C] NM_016076 DESI2 EXON Missense_A180V exm164756 1 244869074 [T/C] NM_016076 DESI2 EXON Missense_R190C exm2263855 1 244894273 [A/C] exm-rs9724895 1 244958013 [T/C] exm2260070 1 244980554 [A/G] exm164771 1 245005544 [A/G] NM_198076,NR_026778 COX20,HNRNPU-AS1 EXON Missense_V69M,Silent exm164781 1 245006461 [A/G] NM_198076,NR_026778 COX20,HNRNPU-AS1 EXON Missense_G114S,Silent exm164783 1 245006474 [A/G] NM_198076,NR_026778 COX20,HNRNPU-AS1 EXON Missense_N118S,Silent exm164792 1 245018909 [A/G] NM_004501,NM_031844 HNRNPU,HNRNPU EXON Synonymous_A704A,Synonymous_A723A exm164794 1 245019207 [T/G] NM_004501,NM_031844 HNRNPU,HNRNPU EXON Synonymous_G703G,Synonymous_G722G exm2232921 1 245019421 [T/G] NM_004501,NM_031844 HNRNPU,HNRNPU EXON Missense_E632A,Missense_E651A exm164809 1 245021347 [C/G] NM_004501,NM_031844 HNRNPU,HNRNPU EXON Missense_G468A,Missense_G487A exm164815 1 245022045 [T/C] NM_004501,NM_031844 HNRNPU,HNRNPU EXON Missense_I387V,Missense_I406V exm164827 1 245022613 [T/C] NM_004501,NM_031844 HNRNPU,HNRNPU EXON Missense_I342V,Missense_I361V exm164865 1 245027527 [T/C] NM_004501,NM_031844 HNRNPU,HNRNPU EXON Missense_K28R,Missense_K28R exm1771930 1 245133746 [A/G] NM_032328,NR_026586,NM_001143943,NR_026587,NR_026588 EFCAB2,EFCAB2,EFCAB2,EFCAB2,EFCAB2 Silent,Silent,Silent,Silent,Silent exm164889 1 245180555 [A/G] NM_032328,NR_026586,NM_001143943,NR_026587,NR_026588 EFCAB2,EFCAB2,EFCAB2,EFCAB2,EFCAB2 EXON Missense_A13T,Silent,Missense_A13T,Silent,Silent exm2250961 1 245222730 [A/G] NM_032328,NR_026586,NM_001143943,NR_026587,NR_026588 EFCAB2,EFCAB2,EFCAB2,EFCAB2,EFCAB2 EXON Synonymous_T51T,Silent,Synonymous_T51T,Silent,Silent exm164901 1 245245434 [T/C] NM_032328,NR_026586,NM_001143943,NR_026587,NR_026588 EFCAB2,EFCAB2,EFCAB2,EFCAB2,EFCAB2 EXON Missense_P78L,Silent,Missense_P78L,Silent,Silent exm164904 1 245246776 [A/G] NM_032328,NR_026586,NM_001143943,NR_026587,NR_026588 EFCAB2,EFCAB2,EFCAB2,EFCAB2,EFCAB2 EXON Missense_R99Q,Silent,Missense_R99Q,Silent,Silent exm164909 1 245250548 [T/C] NM_032328,NR_026586,NM_001143943,NR_026587,NR_026588 EFCAB2,EFCAB2,EFCAB2,EFCAB2,EFCAB2 EXON Synonymous_G125G,Silent,Silent,Silent,Silent exm2250962 1 245312295 [A/G] exm-rs10924173 1 245490640 [A/G] NM_018012 KIF26B Silent exm164932 1 245530282 [A/G] NM_018012 KIF26B EXON Synonymous_T204T exm2250963 1 245530282 [A/G] NM_018012 KIF26B EXON Synonymous_T204T exm164953 1 245530500 [T/C] NM_018012 KIF26B EXON Missense_A277V exm164957 1 245530583 [A/C] NM_018012 KIF26B EXON Missense_N305H exm2250966 1 245703284 [T/C] NM_018012 KIF26B Silent exm165000 1 245766015 [A/G] NM_018012 KIF26B EXON Missense_Q496R exm165012 1 245772651 [G/C] NM_018012 KIF26B EXON Missense_L579V exm165014 1 245772663 [T/C] NM_018012 KIF26B EXON Missense_R583C exm165015 1 245772678 [A/G] NM_018012 KIF26B EXON Missense_G588S exm165026 1 245772826 [T/C] NM_018012 KIF26B EXON Missense_T637M exm165029 1 245775183 [A/G] NM_018012 KIF26B EXON Missense_Q668R exm165035 1 245775210 [A/G] NM_018012 KIF26B EXON Missense_R677H exm165037 1 245775252 [A/G] NM_018012 KIF26B EXON Missense_R691Q exm-rs10924270 1 245804664 [A/G] NM_018012 KIF26B Silent exm165044 1 245809479 [G/C] NM_018012 KIF26B EXON Missense_L719V exm165050 1 245809554 [A/G] NM_018012 KIF26B EXON Missense_V744I exm165055 1 245847617 [A/G] NM_018012 KIF26B EXON Missense_A781T exm165066 1 245847693 [T/C] NM_018012 KIF26B EXON Missense_T806M exm165073 1 245848798 [T/C] NM_018012 KIF26B EXON Missense_T838M exm165079 1 245848878 [A/G] NM_018012 KIF26B EXON Missense_V865I exm165085 1 245848996 [A/G] NM_018012 KIF26B EXON Missense_R904Q exm165093 1 245849191 [T/C] NM_018012 KIF26B EXON Missense_A969V exm165109 1 245849404 [A/G] NM_018012 KIF26B EXON Missense_S1040N exm165112 1 245849472 [A/G] NM_018012 KIF26B EXON Missense_M1063V exm2250967 1 245849483 [G/C] NM_018012 KIF26B EXON Synonymous_P1066P exm2263380 1 245849589 [A/G] NM_018012 KIF26B EXON Missense_A1102T exm165121 1 245849622 [A/G] NM_018012 KIF26B EXON Missense_V1113M exm2232928 1 245849638 [A/C] NM_018012 KIF26B EXON Missense_S1118Y exm165128 1 245849697 [A/C] NM_018012 KIF26B EXON Missense_K1138Q exm2250968 1 245849729 [A/G] NM_018012 KIF26B EXON Synonymous_P1148P exm165131 1 245849729 [A/G] NM_018012 KIF26B EXON Synonymous_P1148P exm165133 1 245849742 [A/G] NM_018012 KIF26B EXON Missense_D1153N exm165134 1 245849809 [T/C] NM_018012 KIF26B EXON Missense_T1175M exm165136 1 245849816 [C/G] NM_018012 KIF26B EXON Missense_Q1177H exm165138 1 245849835 [A/G] NM_018012 KIF26B EXON Missense_G1184S exm165140 1 245849857 [T/C] NM_018012 KIF26B EXON Missense_T1191M exm165144 1 245849938 [T/C] NM_018012 KIF26B EXON Missense_S1218F exm165147 1 245850019 [T/C] NM_018012 KIF26B EXON Missense_T1245M exm165153 1 245850108 [T/C] NM_018012 KIF26B EXON Missense_R1275C exm165155 1 245850145 [T/C] NM_018012 KIF26B EXON Missense_A1287V exm165157 1 245850166 [T/C] NM_018012 KIF26B EXON Missense_S1294L exm165160 1 245850190 [T/C] NM_018012 KIF26B EXON Missense_T1302M exm165163 1 245850303 [T/G] NM_018012 KIF26B EXON Missense_L1340V exm165166 1 245850369 [A/G] NM_018012 KIF26B EXON Missense_I1362V exm165170 1 245850495 [A/G] NM_018012 KIF26B EXON Missense_I1404V exm165172 1 245850513 [G/C] NM_018012 KIF26B EXON Missense_P1410A exm165175 1 245850610 [T/G] NM_018012 KIF26B EXON Missense_L1442R exm2250969 1 245850956 [T/C] NM_018012 KIF26B EXON Synonymous_C1557C exm165192 1 245850988 [T/C] NM_018012 KIF26B EXON Missense_S1568L exm165218 1 245851609 [G/C] NM_018012 KIF26B EXON Missense_P1775R exm165237 1 245861512 [T/C] NM_018012 KIF26B EXON Missense_R1977W exm1772143 1 245861513 [A/G] NM_018012 KIF26B EXON Missense_R1977Q exm165238 1 245861522 [T/C] NM_018012 KIF26B EXON Missense_P1980L exm1772147 1 245862232 [A/G] NM_018012 KIF26B EXON Missense_R2024H exm165249 1 245862249 [A/G] NM_018012 KIF26B EXON Missense_E2030K exm165254 1 245862292 [T/C] NM_018012 KIF26B EXON Missense_A2044V exm165261 1 245865900 [T/C] NM_018012 KIF26B EXON Missense_R2107C exm165265 1 245912881 [T/C] NM_022743,NM_001167740 SMYD3,SMYD3 EXON Missense_N365S,Missense_N424S exm2276901 1 246021875 [A/G] NM_022743,NM_001167740 SMYD3,SMYD3 EXON Synonymous_C274C,Synonymous_C333C exm2268988 1 246078476 [T/C] NM_022743,NM_001167740 SMYD3,SMYD3 Silent,Silent exm165285 1 246078851 [T/C] NM_022743,NM_001167740 SMYD3,SMYD3 EXON Missense_R206H,Missense_R265H exm165297 1 246091276 [T/C] NM_022743,NM_001167740 SMYD3,SMYD3 EXON Missense_H161R,Missense_H220R exm2263856 1 246182293 [A/C] NM_022743,NM_001167740 SMYD3,SMYD3 Silent,Silent exm165320 1 246518362 [T/C] NM_022743,NM_001167740 SMYD3,SMYD3 EXON Missense_V8I,Missense_V67I exm165329 1 246670481 [G/C] NM_001167740 SMYD3 EXON Missense_K13N exm2273761 1 246704454 [T/A] NM_022366 TFB2M EXON Missense_Q357L exm165337 1 246704470 [T/C] NM_022366 TFB2M EXON Missense_M352V exm165338 1 246704481 [T/C] NM_022366 TFB2M EXON Missense_R348K exm165340 1 246704502 [T/G] NM_022366 TFB2M EXON Nonsense_S341X exm165344 1 246707823 [T/C] NM_022366 TFB2M EXON Missense_R340H exm165353 1 246711849 [T/C] NM_022366 TFB2M EXON Missense_R286G exm165358 1 246714520 [A/G] NM_022366 TFB2M EXON Missense_H264Y exm165368 1 246719916 [A/G] NM_022366 TFB2M EXON Nonsense_R222X exm1772435 1 246727700 [T/C] NM_022366 TFB2M EXON Missense_G117D exm165386 1 246729173 [T/C] NM_022366 TFB2M EXON Missense_G90R exm165387 1 246729178 [T/C] NM_022366 TFB2M EXON Missense_Y88C exm165388 1 246729251 [T/C] NM_022366 TFB2M EXON Missense_A64T exm165391 1 246729298 [A/G] NM_022366 TFB2M EXON Missense_S48F exm165393 1 246729356 [T/C] NM_022366 TFB2M EXON Missense_E29K exm165395 1 246729395 [A/C] NM_022366 TFB2M EXON Missense_A16S exm2232934 1 246730090 [G/C] NM_152609,NM_001139459 CNST,CNST EXON Silent,Silent exm165406 1 246754947 [A/G] NM_152609,NM_001139459 CNST,CNST EXON Missense_S28N,Missense_S28N exm165407 1 246754956 [A/G] NM_152609,NM_001139459 CNST,CNST EXON Missense_C31Y,Missense_C31Y exm165415 1 246755124 [T/C] NM_152609,NM_001139459 CNST,CNST EXON Missense_L87S,Missense_L87S exm165419 1 246755204 [T/C] NM_152609,NM_001139459 CNST,CNST EXON Missense_P114S,Missense_P114S exm165430 1 246784899 [A/G] NM_152609,NM_001139459 CNST,CNST EXON Missense_Q183R,Missense_Q183R exm165444 1 246797823 [A/G] NM_152609,NM_001139459 CNST,CNST EXON Missense_N251S,Missense_N251S exm165451 1 246805265 [A/G] NM_152609,NM_001139459 CNST,CNST EXON Missense_Q288R,Missense_Q288R exm165455 1 246805306 [C/G] NM_152609,NM_001139459 CNST,CNST EXON Missense_P302A,Missense_P302A exm165457 1 246810459 [T/G] NM_152609,NM_001139459 CNST,CNST EXON Missense_G319V,Missense_G319V exm165458 1 246810488 [A/C] NM_152609,NM_001139459 CNST,CNST EXON Missense_T329P,Missense_T329P exm165468 1 246810698 [T/C] NM_152609,NM_001139459 CNST,CNST EXON Missense_R399C,Missense_R399C exm165472 1 246810819 [T/G] NM_152609,NM_001139459 CNST,CNST EXON Missense_C439F,Missense_C439F exm165480 1 246810869 [G/C] NM_152609,NM_001139459 CNST,CNST EXON Missense_Q456E,Missense_Q456E exm165482 1 246810884 [T/C] NM_152609,NM_001139459 CNST,CNST EXON Missense_R461C,Missense_R461C exm165501 1 246811190 [T/C] NM_152609,NM_001139459 CNST,CNST EXON Missense_L563F,Missense_L563F exm165517 1 246887744 [T/C] NM_016002 SCCPDH EXON Missense_P7L exm165522 1 246890239 [T/C] NM_016002 SCCPDH EXON Missense_I79T exm165525 1 246890268 [A/G] NM_016002 SCCPDH EXON Missense_A89T exm165528 1 246890298 [A/G] NM_016002 SCCPDH EXON Missense_V99I exm165533 1 246899321 [T/G] NM_016002 SCCPDH EXON Missense_N116K exm165537 1 246907377 [C/G] NM_016002 SCCPDH Silent exm165539 1 246907410 [A/G] NM_016002 SCCPDH EXON Missense_I183V exm165541 1 246921640 [T/G] NM_016002 SCCPDH EXON Missense_G226V exm165542 1 246922343 [A/G] NM_016002 SCCPDH EXON Missense_I235V exm1772534 1 246922355 [T/C] NM_016002 SCCPDH EXON Missense_R239W exm165543 1 246922356 [A/G] NM_016002 SCCPDH EXON Missense_R239Q exm165545 1 246922422 [A/G] NM_016002 SCCPDH EXON Missense_R261H exm165560 1 246929392 [A/G] NM_016002 SCCPDH EXON Missense_V379I exm165568 1 246930564 [G/C] NM_016002 SCCPDH EXON Missense_G418R exm2264978 1 246994906 [A/G] exm165601 1 247006035 [A/G] NM_015446 AHCTF1 EXON Missense_A2199V exm165602 1 247006051 [G/C] NM_015446 AHCTF1 EXON Missense_L2194V exm165605 1 247007113 [T/C] NM_015446 AHCTF1 EXON Missense_K2179R exm165610 1 247012919 [T/C] NM_015446 AHCTF1 EXON Missense_K2139R exm165612 1 247012943 [A/G] NM_015446 AHCTF1 EXON Missense_A2131V exm165629 1 247013492 [T/C] NM_015446 AHCTF1 EXON Missense_R1948K exm165631 1 247013543 [T/C] NM_015446 AHCTF1 EXON Missense_D1931G exm165635 1 247013576 [A/G] NM_015446 AHCTF1 EXON Missense_L1920S exm2250980 1 247014064 [A/G] NM_015446 AHCTF1 EXON Synonymous_N1757N exm165656 1 247014387 [T/A] NM_015446 AHCTF1 EXON Missense_L1650M exm165657 1 247014407 [T/C] NM_015446 AHCTF1 EXON Missense_N1643S exm165659 1 247014423 [T/C] NM_015446 AHCTF1 EXON Missense_S1638G exm165667 1 247014744 [T/C] NM_015446 AHCTF1 EXON Missense_V1531M exm165677 1 247019061 [A/G] NM_015446 AHCTF1 EXON Missense_T1451I exm165681 1 247019101 [A/G] NM_015446 AHCTF1 EXON Missense_P1438S exm165683 1 247019123 [G/C] NM_015446 AHCTF1 EXON Missense_I1430M exm165701 1 247024561 [T/G] NM_015446 AHCTF1 EXON Missense_P1267T exm165715 1 247030545 [A/C] NM_015446 AHCTF1 Silent exm165716 1 247030547 [T/C] NM_015446 AHCTF1 EXON Missense_R1125G exm165720 1 247030981 [T/C] NM_015446 AHCTF1 EXON Missense_S1083N exm165727 1 247039473 [T/C] NM_015446 AHCTF1 EXON Missense_R994H exm165730 1 247040261 [A/C] NM_015446 AHCTF1 EXON Missense_I985M exm165749 1 247050575 [T/C] NM_015446 AHCTF1 EXON Missense_I813V exm165752 1 247051481 [T/C] NM_015446 AHCTF1 EXON Missense_I784V exm165758 1 247053277 [T/C] NM_015446 AHCTF1 EXON Missense_R721H exm165759 1 247053295 [T/C] NM_015446 AHCTF1 EXON Missense_R715H exm165763 1 247053355 [G/C] NM_015446 AHCTF1 EXON Missense_S695C exm165767 1 247054333 [T/C] NM_015446 AHCTF1 EXON Missense_V668I exm2232940 1 247065938 [T/C] NM_015446 AHCTF1 EXON Missense_T345A exm165803 1 247067325 [T/C] NM_015446 AHCTF1 EXON Missense_V307I exm2275556 1 247070889 [T/C] NM_015446 AHCTF1 EXON Missense_Y252C exm165831 1 247150582 [T/C] NR_037892,NR_037894,NM_001204221,NM_020394 ZNF695,ZNF670-ZNF695,ZNF695,ZNF695 EXON Silent,Silent,Silent,Missense_E412G exm165840 1 247150739 [T/C] NR_037892,NR_037894,NM_001204221,NM_020394 ZNF695,ZNF670-ZNF695,ZNF695,ZNF695 EXON Silent,Silent,Silent,Missense_A360T exm165845 1 247151014 [T/G] NR_037892,NR_037894,NM_001204221,NM_020394 ZNF695,ZNF670-ZNF695,ZNF695,ZNF695 EXON Silent,Silent,Silent,Missense_Y268S exm165846 1 247151035 [T/G] NR_037892,NR_037894,NM_001204221,NM_020394 ZNF695,ZNF670-ZNF695,ZNF695,ZNF695 EXON Silent,Silent,Silent,Missense_N261T exm165853 1 247151236 [G/C] NR_037892,NR_037894,NM_001204221,NM_020394 ZNF695,ZNF670-ZNF695,ZNF695,ZNF695 EXON Silent,Silent,Silent,Missense_C194S exm165854 1 247151257 [T/C] NR_037892,NR_037894,NM_001204221,NM_020394 ZNF695,ZNF670-ZNF695,ZNF695,ZNF695 EXON Silent,Silent,Silent,Missense_K187R exm165863 1 247151467 [T/C] NR_037892,NR_037894,NM_001204221,NM_020394 ZNF695,ZNF670-ZNF695,ZNF695,ZNF695 EXON Silent,Silent,Missense_C117Y,Missense_C117Y exm165864 1 247151487 [T/C] NR_037892,NR_037894,NM_001204221,NM_020394 ZNF695,ZNF670-ZNF695,ZNF695,ZNF695 EXON Silent,Silent,Missense_M110I,Missense_M110I exm165867 1 247151557 [A/G] NR_037892,NR_037894,NM_001204221,NM_020394 ZNF695,ZNF670-ZNF695,ZNF695,ZNF695 EXON Silent,Silent,Missense_V87A,Missense_V87A exm165868 1 247162653 [A/G] NR_037892,NR_037894,NM_001204221,NM_020394 ZNF695,ZNF670-ZNF695,ZNF695,ZNF695 EXON Silent,Silent,Missense_S86P,Missense_S86P exm165869 1 247162658 [T/C] NR_037892,NR_037894,NM_001204221,NM_020394 ZNF695,ZNF670-ZNF695,ZNF695,ZNF695 EXON Silent,Silent,Missense_R84K,Missense_R84K exm165870 1 247162734 [T/C] NR_037892,NR_037894,NM_001204221,NM_020394 ZNF695,ZNF670-ZNF695,ZNF695,ZNF695 EXON Silent,Silent,Missense_M59V,Missense_M59V exm165887 1 247200759 [T/C] NR_037894,NM_033213,NM_001204220 ZNF670-ZNF695,ZNF670,ZNF670 EXON Silent,Missense_M388V,Missense_M387V exm165907 1 247201284 [A/G] NR_037894,NM_033213,NM_001204220 ZNF670-ZNF695,ZNF670,ZNF670 EXON Silent,Missense_R213C,Missense_R212C exm165922 1 247201537 [T/G] NR_037894,NM_033213,NM_001204220 ZNF670-ZNF695,ZNF670,ZNF670 EXON Silent,Missense_N128K,Missense_N127K exm165924 1 247201569 [T/G] NR_037894,NM_033213,NM_001204220 ZNF670-ZNF695,ZNF670,ZNF670 EXON Silent,Missense_L118I,Missense_L117I exm165926 1 247201584 [T/C] NR_037894,NM_033213,NM_001204220 ZNF670-ZNF695,ZNF670,ZNF670 EXON Silent,Missense_I113V,Missense_I112V exm165933 1 247201727 [C/G] NR_037894,NM_033213,NM_001204220 ZNF670-ZNF695,ZNF670,ZNF670 EXON Silent,Missense_S65T,Silent exm2265098 1 247259684 [A/G] exm165952 1 247263818 [T/C] NM_001142572,NM_024804 ZNF669,ZNF669 EXON Missense_Y332C,Missense_Y418C exm165975 1 247264263 [T/C] NM_001142572,NM_024804 ZNF669,ZNF669 EXON Missense_R184G,Missense_R270G exm165977 1 247264347 [T/C] NM_001142572,NM_024804 ZNF669,ZNF669 EXON Missense_I156V,Missense_I242V exm165978 1 247264356 [T/C] NM_001142572,NM_024804 ZNF669,ZNF669 EXON Missense_R153G,Missense_R239G exm165985 1 247264541 [T/C] NM_001142572,NM_024804 ZNF669,ZNF669 EXON Missense_D91G,Missense_D177G exm165987 1 247264615 [A/C] NM_001142572,NM_024804 ZNF669,ZNF669 EXON Missense_H66Q,Missense_H152Q exm165994 1 247265294 [A/G] NM_001142572,NM_024804 ZNF669,ZNF669 EXON Missense_S42F,Missense_S128F exm2273762 1 247265307 [T/C] NM_001142572,NM_024804 ZNF669,ZNF669 EXON Missense_R38G,Missense_R124G exm1772752 1 247267248 [T/G] NM_001142572,NM_024804 ZNF669,ZNF669 EXON Silent,Missense_P85H exm166005 1 247267269 [T/C] NM_001142572,NM_024804 ZNF669,ZNF669 EXON Silent,Missense_C78Y exm2232950 1 247267413 [A/C] NM_001142572,NM_024804 ZNF669,ZNF669 EXON Silent,Missense_R30L exm166019 1 247267417 [A/G] NM_001142572,NM_024804 ZNF669,ZNF669 EXON Silent,Missense_H29Y exm166020 1 247267425 [A/G] NM_001142572,NM_024804 ZNF669,ZNF669 EXON Silent,Missense_P26L exm166023 1 247267485 [T/C] NM_001142572,NM_024804 ZNF669,ZNF669 EXON Silent,Missense_R6H exm166024 1 247267486 [T/G] NM_001142572,NM_024804 ZNF669,ZNF669 EXON Silent,Missense_R6S exm166025 1 247267488 [A/G] NM_001142572,NM_024804 ZNF669,ZNF669 EXON Silent,Missense_L5P exm2232951 1 247275264 [A/G] NM_207401 C1orf229 EXON Missense_A88V exm166059 1 247319974 [C/G] NM_001243740,NM_003431 ZNF124,ZNF124 EXON Silent,Missense_P255R exm166061 1 247320050 [A/G] NM_001243740,NM_003431 ZNF124,ZNF124 EXON Silent,Missense_C230R exm166064 1 247320083 [T/C] NM_001243740,NM_003431 ZNF124,ZNF124 EXON Silent,Missense_E219K exm166067 1 247320104 [T/C] NM_001243740,NM_003431 ZNF124,ZNF124 EXON Silent,Missense_A212T exm166068 1 247320105 [T/G] NM_001243740,NM_003431 ZNF124,ZNF124 EXON Silent,Nonsense_Y211X exm166093 1 247322344 [A/G] NM_001243740,NM_003431 ZNF124,ZNF124 EXON Missense_I61T,Missense_I61T exm166096 1 247323025 [T/C] NM_001243740,NM_003431 ZNF124,ZNF124 EXON Missense_V41M,Missense_V41M exm1772774 1 247323111 [A/G] NM_001243740,NM_003431 ZNF124,ZNF124 EXON Missense_S12L,Missense_S12L exm-rs3738443 1 247348189 [T/C] exm166116 1 247419932 [T/C] NM_173858 VN1R5 EXON Missense_R187W exm166120 1 247419951 [A/G] NM_173858 VN1R5 EXON Missense_R193Q exm166130 1 247420167 [A/G] NM_173858 VN1R5 EXON Missense_K265R exm1772804 1 247420287 [T/A] NM_173858 VN1R5 EXON Missense_Q305L exm166141 1 247420421 [T/C] NM_173858 VN1R5 EXON Missense_R350C exm1772813 1 247464002 [T/C] NM_032752 ZNF496 EXON Missense_G528E exm166154 1 247464050 [A/G] NM_032752 ZNF496 EXON Missense_P512L exm166162 1 247464150 [C/G] NM_032752 ZNF496 EXON Missense_L479V exm166173 1 247464476 [T/A] NM_032752 ZNF496 EXON Missense_Y370F exm166176 1 247464573 [T/C] NM_032752 ZNF496 EXON Missense_G338S exm166178 1 247471845 [A/C] NM_032752 ZNF496 EXON Missense_R313L exm166179 1 247471846 [A/G] NM_032752 ZNF496 EXON Missense_R313C exm166185 1 247473018 [A/G] NM_032752 ZNF496 EXON Missense_P292L exm166186 1 247473055 [T/C] NM_032752 ZNF496 EXON Missense_V280I exm166200 1 247486494 [A/G] NM_032752 ZNF496 EXON Missense_R205W exm166201 1 247486512 [A/G] NM_032752 ZNF496 EXON Missense_L199F exm166209 1 247492078 [T/C] NM_032752 ZNF496 EXON Missense_D161N exm166233 1 247492783 [T/C] NM_032752 ZNF496 EXON Missense_G33E exm166248 1 247582305 [T/C] NM_001079821,NM_001127461,NM_001243133,NM_001127462,NM_004895,NM_183395 NLRP3,NLRP3,NLRP3,NLRP3,NLRP3,NLRP3 EXON Missense_M70T,Missense_M70T,Missense_M68T,Missense_M70T,Missense_M70T,Missense_M70T exm1772866 1 247582310 [A/G] NM_001079821,NM_001127461,NM_001243133,NM_001127462,NM_004895,NM_183395 NLRP3,NLRP3,NLRP3,NLRP3,NLRP3,NLRP3 EXON Missense_V72M,Missense_V72M,Missense_V70M,Missense_V72M,Missense_V72M,Missense_V72M exm1772878 1 247587155 [A/G] NM_001079821,NM_001127461,NM_001243133,NM_001127462,NM_004895,NM_183395 NLRP3,NLRP3,NLRP3,NLRP3,NLRP3,NLRP3 EXON Missense_R137H,Missense_R137H,Missense_R135H,Missense_R137H,Missense_R137H,Missense_R137H exm166268 1 247587389 [A/G] NM_001079821,NM_001127461,NM_001243133,NM_001127462,NM_004895,NM_183395 NLRP3,NLRP3,NLRP3,NLRP3,NLRP3,NLRP3 EXON Missense_H215R,Missense_H215R,Missense_H213R,Missense_H215R,Missense_H215R,Missense_H215R exm166271 1 247587425 [T/C] NM_001079821,NM_001127461,NM_001243133,NM_001127462,NM_004895,NM_183395 NLRP3,NLRP3,NLRP3,NLRP3,NLRP3,NLRP3 EXON Missense_A227V,Missense_A227V,Missense_A225V,Missense_A227V,Missense_A227V,Missense_A227V exm166309 1 247588214 [A/G] NM_001079821,NM_001127461,NM_001243133,NM_001127462,NM_004895,NM_183395 NLRP3,NLRP3,NLRP3,NLRP3,NLRP3,NLRP3 EXON Missense_R490K,Missense_R490K,Missense_R488K,Missense_R490K,Missense_R490K,Missense_R490K exm166315 1 247588390 [T/A] NM_001079821,NM_001127461,NM_001243133,NM_001127462,NM_004895,NM_183395 NLRP3,NLRP3,NLRP3,NLRP3,NLRP3,NLRP3 EXON Missense_S549C,Missense_S549C,Missense_S547C,Missense_S549C,Missense_S549C,Missense_S549C exm166327 1 247588687 [T/G] NM_001079821,NM_001127461,NM_001243133,NM_001127462,NM_004895,NM_183395 NLRP3,NLRP3,NLRP3,NLRP3,NLRP3,NLRP3 EXON Missense_D648Y,Missense_D648Y,Missense_D646Y,Missense_D648Y,Missense_D648Y,Missense_D648Y exm166336 1 247592912 [A/G] NM_001079821,NM_001127461,NM_001243133,NM_001127462,NM_004895,NM_183395 NLRP3,NLRP3,NLRP3,NLRP3,NLRP3,NLRP3 EXON Missense_S728G,Missense_S728G,Missense_S726G,Silent,Missense_S728G,Silent exm166351 1 247597571 [A/C] NM_001079821,NM_001127461,NM_001243133,NM_001127462,NM_004895,NM_183395 NLRP3,NLRP3,NLRP3,NLRP3,NLRP3,NLRP3 EXON Missense_L832I,Missense_L832I,Missense_L830I,Missense_L775I,Missense_L832I,Missense_L775I exm-rs1539019 1 247600301 [A/C] NM_001079821,NM_001127461,NM_001243133,NM_001127462,NM_004895,NM_183395 NLRP3,NLRP3,NLRP3,NLRP3,NLRP3,NLRP3 Silent,Silent,Silent,Silent,Silent,Silent exm-rs12239046 1 247601595 [T/C] NM_001079821,NM_001127461,NM_001243133,NM_001127462,NM_004895,NM_183395 NLRP3,NLRP3,NLRP3,NLRP3,NLRP3,NLRP3 Silent,Silent,Silent,Silent,Silent,Silent exm166361 1 247607296 [T/C] NM_001079821,NM_001127461,NM_001243133,NM_001127462,NM_004895,NM_183395 NLRP3,NLRP3,NLRP3,NLRP3,NLRP3,NLRP3 EXON Missense_S898P,Missense_S841P,Missense_S896P,Missense_S841P,Missense_S898P,Missense_S784P exm166369 1 247607973 [T/C] NM_001079821,NM_001127461,NM_001243133,NM_001127462,NM_004895,NM_183395 NLRP3,NLRP3,NLRP3,NLRP3,NLRP3,NLRP3 EXON Missense_T954M,Missense_T897M,Missense_T952M,Missense_T897M,Missense_T954M,Missense_T840M exm166381 1 247611749 [A/C] NM_001079821,NM_001127461,NM_001243133,NM_001127462,NM_004895,NM_183395 NLRP3,NLRP3,NLRP3,NLRP3,NLRP3,NLRP3 EXON Missense_L1018F,Missense_L961F,Missense_L1016F,Missense_L961F,Missense_L1018F,Missense_L904F exm166382 1 247614386 [T/C] NM_001004492 OR2B11 EXON Missense_D300G exm166384 1 247614407 [A/G] NM_001004492 OR2B11 EXON Missense_T293I exm166385 1 247614417 [T/G] NM_001004492 OR2B11 EXON Missense_N290H exm166386 1 247614420 [A/G] NM_001004492 OR2B11 EXON Missense_L289F exm166391 1 247614464 [T/C] NM_001004492 OR2B11 EXON Missense_Q274R exm1772907 1 247614465 [A/G] NM_001004492 OR2B11 EXON Nonsense_Q274X exm166397 1 247614573 [A/G] NM_001004492 OR2B11 EXON Nonsense_R238X exm166399 1 247614606 [A/G] NM_001004492 OR2B11 EXON Missense_R227W exm166400 1 247614617 [T/C] NM_001004492 OR2B11 EXON Missense_G223D exm166401 1 247614645 [A/G] NM_001004492 OR2B11 EXON Missense_P214S exm166403 1 247614657 [A/G] NM_001004492 OR2B11 EXON Missense_F210L exm166406 1 247614685 [T/G] NM_001004492 OR2B11 EXON Missense_D200E exm166408 1 247614693 [T/C] NM_001004492 OR2B11 EXON Missense_V198M exm166409 1 247614723 [T/C] NM_001004492 OR2B11 EXON Missense_V188M exm1772910 1 247614750 [T/C] NM_001004492 OR2B11 EXON Missense_N179D exm166415 1 247614785 [A/G] NM_001004492 OR2B11 EXON Missense_T167M exm166416 1 247614792 [T/C] NM_001004492 OR2B11 EXON Missense_V165I exm166417 1 247614801 [T/C] NM_001004492 OR2B11 EXON Missense_V162M exm166423 1 247614896 [A/C] NM_001004492 OR2B11 EXON Missense_I130S exm166429 1 247614992 [T/C] NM_001004492 OR2B11 EXON Missense_Y98C exm166432 1 247615127 [A/G] NM_001004492 OR2B11 EXON Missense_S53F exm166435 1 247615148 [T/C] NM_001004492 OR2B11 EXON Missense_N46S exm166451 1 247654439 [A/G] NM_001004698 OR2W5 EXON Missense_D4N exm166453 1 247654493 [T/G] NM_001004698 OR2W5 EXON Nonsense_G22X exm166456 1 247654637 [A/G] NM_001004698 OR2W5 EXON Missense_D70N exm166460 1 247654747 [A/G] NM_001004698 OR2W5 EXON Missense_M106I exm166465 1 247654798 [T/G] NM_001004698 OR2W5 EXON Nonsense_Y123X exm166468 1 247654902 [A/T] NM_001004698 OR2W5 EXON Missense_I158N exm166469 1 247654931 [T/C] NM_001004698 OR2W5 EXON Missense_R168W exm166470 1 247654941 [A/G] NM_001004698 OR2W5 EXON Missense_R171H exm166477 1 247655032 [A/C] NM_001004698 OR2W5 EXON Nonsense_C201X exm166480 1 247655088 [A/G] NM_001004698 OR2W5 EXON Missense_R220H exm166482 1 247655102 [A/G] NM_001004698 OR2W5 EXON Missense_G225S exm166485 1 247655270 [T/C] NM_001004698 OR2W5 EXON Missense_R281C exm166487 1 247655279 [T/C] NM_001004698 OR2W5 EXON Nonsense_Q284X exm166490 1 247655365 [C/G] NM_001004698 OR2W5 EXON Missense_W312C exm-rs1881797 1 247689532 [T/C] NR_027309 GCSAML-AS1 Silent exm166497 1 247694898 [T/C] NM_198074 OR2C3 EXON Missense_V306I exm166500 1 247694949 [C/G] NM_198074 OR2C3 EXON Missense_L289V exm166506 1 247695111 [A/G] NM_198074 OR2C3 EXON Missense_R235W exm166509 1 247695143 [T/C] NM_198074 OR2C3 EXON Missense_R224Q exm2250989 1 247695223 [T/C] NM_198074 OR2C3 EXON Synonymous_E197E exm166514 1 247695273 [T/C] NM_198074 OR2C3 EXON Missense_E181K exm166515 1 247695283 [C/G] NM_198074 OR2C3 EXON Missense_H177Q exm166521 1 247695413 [A/G] NM_198074 OR2C3 EXON Missense_T134I exm166522 1 247695427 [G/C] NM_198074 OR2C3 EXON Missense_R129S exm166524 1 247695446 [T/C] NM_198074 OR2C3 EXON Missense_R123H exm166531 1 247695612 [A/G] NM_198074 OR2C3 EXON Missense_P68S exm1772949 1 247695615 [C/G] NM_198074 OR2C3 EXON Missense_L67V exm166532 1 247695698 [A/G] NM_198074 OR2C3 EXON Missense_S39L exm166534 1 247695726 [T/G] NM_198074 OR2C3 EXON Missense_I30L exm166535 1 247695729 [A/C] NM_198074 OR2C3 EXON Missense_F29V exm166537 1 247695756 [T/C] NM_198074 OR2C3 EXON Missense_T20A exm166543 1 247712512 [T/C] NM_145278 GCSAML EXON Nonsense_R7X exm166548 1 247719769 [A/G] NM_145278 GCSAML Silent exm166554 1 247726936 [A/G] NM_145278 GCSAML EXON Missense_K45R exm166559 1 247729238 [A/G] NM_145278 GCSAML EXON Missense_E49K exm166563 1 247737493 [A/C] NM_145278 GCSAML EXON Missense_N73H exm166565 1 247737547 [A/G] NM_145278 GCSAML EXON Missense_N91D exm166577 1 247751731 [C/G] NM_001001915 OR2G2 EXON Missense_P24A exm166580 1 247751897 [G/C] NM_001001915 OR2G2 EXON Missense_S79T exm166587 1 247752019 [G/C] NM_001001915 OR2G2 EXON Missense_V120L exm166588 1 247752034 [A/C] NM_001001915 OR2G2 EXON Missense_R125S exm166589 1 247752037 [T/C] NM_001001915 OR2G2 EXON Missense_Y126H exm166591 1 247752109 [A/G] NM_001001915 OR2G2 EXON Missense_M150V exm166595 1 247752183 [A/T] NM_001001915 OR2G2 EXON Missense_H174Q exm166600 1 247752367 [A/G] NM_001001915 OR2G2 EXON Missense_R236G exm166601 1 247752386 [A/G] NM_001001915 OR2G2 EXON Missense_G242E exm166603 1 247752502 [T/C] NM_001001915 OR2G2 EXON Missense_Y281H exm166605 1 247752518 [A/G] NM_001001915 OR2G2 EXON Missense_R286H exm166615 1 247768948 [T/C] NM_001001914 OR2G3 EXON Missense_P21S exm166620 1 247769030 [T/C] NM_001001914 OR2G3 EXON Missense_I48T exm166621 1 247769048 [T/C] NM_001001914 OR2G3 EXON Missense_P54L exm166623 1 247769062 [A/G] NM_001001914 OR2G3 EXON Missense_M59V exm166624 1 247769082 [A/C] NM_001001914 OR2G3 EXON Missense_N65K exm166625 1 247769120 [T/C] NM_001001914 OR2G3 EXON Missense_A78V exm166629 1 247769204 [T/C] NM_001001914 OR2G3 EXON Missense_A106V exm166631 1 247769207 [T/G] NM_001001914 OR2G3 EXON Missense_L107R exm166638 1 247769378 [T/C] NM_001001914 OR2G3 EXON Missense_L164S exm166640 1 247769412 [A/C] NM_001001914 OR2G3 EXON Missense_D175E exm166641 1 247769419 [A/G] NM_001001914 OR2G3 EXON Missense_I178V exm166643 1 247769425 [A/G] NM_001001914 OR2G3 EXON Missense_E180K exm166645 1 247769441 [T/C] NM_001001914 OR2G3 EXON Missense_L185P exm166648 1 247769573 [T/A] NM_001001914 OR2G3 EXON Missense_K229I exm166651 1 247769659 [A/G] NM_001001914 OR2G3 EXON Missense_V258M exm2232962 1 247769687 [T/C] NM_001001914 OR2G3 EXON Missense_A267V exm166653 1 247769692 [A/G] NM_001001914 OR2G3 EXON Missense_D269N exm166656 1 247769752 [A/G] NM_001001914 OR2G3 EXON Missense_I289V exm1772987 1 247769768 [A/T] NM_001001914 OR2G3 EXON Missense_N294I exm166659 1 247769786 [A/C] NM_001001914 OR2G3 EXON Missense_A300D exm2264979 1 247799606 [A/G] exm166662 1 247835493 [A/G] NM_001005487 OR13G1 EXON Missense_P284L exm166667 1 247835651 [A/C] NM_001005487 OR13G1 EXON Missense_K231N exm166669 1 247835673 [T/C] NM_001005487 OR13G1 EXON Missense_R224H exm166670 1 247835674 [A/G] NM_001005487 OR13G1 EXON Missense_R224C exm1772999 1 247835749 [T/C] NM_001005487 OR13G1 EXON Missense_A199T exm1773000 1 247835782 [C/G] NM_001005487 OR13G1 EXON Missense_P188A exm166679 1 247835857 [A/C] NM_001005487 OR13G1 EXON Missense_L163V exm166680 1 247835859 [G/C] NM_001005487 OR13G1 EXON Missense_R162T exm166682 1 247835889 [T/C] NM_001005487 OR13G1 EXON Missense_N152S exm166683 1 247835908 [A/T] NM_001005487 OR13G1 EXON Missense_M146L exm166685 1 247835950 [T/C] NM_001005487 OR13G1 EXON Missense_I132V exm166686 1 247835961 [T/C] NM_001005487 OR13G1 EXON Missense_H128R exm166690 1 247836078 [A/C] NM_001005487 OR13G1 EXON Missense_I89S exm166695 1 247836207 [A/T] NM_001005487 OR13G1 EXON Missense_K46I exm166702 1 247875276 [T/C] NM_001005286 OR6F1 EXON Missense_R261H exm166706 1 247875313 [A/G] NM_001005286 OR6F1 EXON Missense_L249F exm166710 1 247875358 [A/G] NM_001005286 OR6F1 EXON Missense_R234W exm166713 1 247875415 [A/G] NM_001005286 OR6F1 EXON Missense_F215L exm1773019 1 247875516 [A/G] NM_001005286 OR6F1 EXON Missense_I181T exm166720 1 247875543 [T/C] NM_001005286 OR6F1 EXON Missense_R172H exm166724 1 247875583 [G/C] NM_001005286 OR6F1 EXON Missense_P159A exm166727 1 247875598 [T/C] NM_001005286 OR6F1 EXON Missense_V154M exm166729 1 247875604 [T/C] NM_001005286 OR6F1 EXON Missense_G152S exm166745 1 247875825 [A/G] NM_001005286 OR6F1 EXON Missense_V78A exm2273763 1 247875945 [C/G] NM_001005286 OR6F1 EXON Missense_T38R exm166750 1 247875975 [A/G] NM_001005286 OR6F1 EXON Missense_F28S exm166753 1 247876020 [A/G] NM_001005286 OR6F1 EXON Missense_L13P exm166791 1 247920871 [T/C] NM_012353 OR1C1 EXON Missense_M280V exm166792 1 247920880 [T/G] NM_012353 OR1C1 EXON Missense_M277L exm166798 1 247920961 [A/C] NM_012353 OR1C1 EXON Missense_L250V exm166804 1 247921083 [A/G] NM_012353 OR1C1 EXON Missense_T209M exm2232963 1 247921108 [T/C] NM_012353 OR1C1 EXON Missense_A201T exm2232964 1 247921340 [T/A] NM_012353 OR1C1 EXON Nonsense_Y123X exm166820 1 247921509 [A/G] NM_012353 OR1C1 EXON Missense_A67V exm166823 1 247921546 [A/G] NM_012353 OR1C1 EXON Missense_L55F exm2273764 1 247921589 [G/C] NM_012353 OR1C1 EXON Missense_L40F exm166827 1 247921612 [A/C] NM_012353 OR1C1 EXON Missense_C33G exm166835 1 247978232 [A/C] NM_001001966 OR14A16 EXON Missense_L267W exm166839 1 247978319 [A/G] NM_001001966 OR14A16 EXON Missense_I238T exm166844 1 247978436 [A/C] NM_001001966 OR14A16 EXON Missense_L199R exm166846 1 247978517 [A/G] NM_001001966 OR14A16 EXON Missense_V172A exm166851 1 247978586 [T/C] NM_001001966 OR14A16 EXON Missense_Y149C exm166855 1 247978659 [A/G] NM_001001966 OR14A16 EXON Missense_C125R exm166867 1 247978814 [G/C] NM_001001966 OR14A16 EXON Nonsense_S73X exm166872 1 247978885 [G/C] NM_001001966 OR14A16 EXON Missense_L49F exm166877 1 247978942 [C/G] NM_001001966 OR14A16 EXON Missense_L30F exm166882 1 247979013 [T/C] NM_001001966 OR14A16 EXON Missense_V7M exm166892 1 248004334 [T/C] NM_001001959 OR11L1 EXON Missense_I289V exm166894 1 248004375 [G/C] NM_001001959 OR11L1 EXON Missense_S275C exm2275558 1 248004389 [A/G] NM_001001959 OR11L1 EXON Synonymous_I270I exm166898 1 248004499 [A/G] NM_001001959 OR11L1 EXON Missense_R234W exm166909 1 248004687 [C/G] NM_001001959 OR11L1 EXON Missense_R171P exm1773063 1 248004745 [G/C] NM_001001959 OR11L1 EXON Missense_G152R exm166910 1 248004752 [T/C] NM_001001959 OR11L1 EXON Nonsense_W149X exm166912 1 248004775 [T/C] NM_001001959 OR11L1 EXON Missense_A142T exm166913 1 248004787 [A/G] NM_001001959 OR11L1 EXON Missense_R138C exm166916 1 248004848 [C/G] NM_001001959 OR11L1 EXON Missense_F117L exm166917 1 248004868 [T/C] NM_001001959 OR11L1 EXON Missense_E111K exm166918 1 248004876 [T/C] NM_001001959 OR11L1 EXON Missense_G108D exm166919 1 248004877 [T/C] NM_001001959 OR11L1 EXON Missense_G108S exm166923 1 248004930 [T/G] NM_001001959 OR11L1 EXON Missense_Q90P exm166925 1 248005038 [T/C] NM_001001959 OR11L1 EXON Missense_R54Q exm166927 1 248005044 [T/C] NM_001001959 OR11L1 EXON Missense_G52D exm2232965 1 248005109 [A/C] NM_001001959 OR11L1 EXON Missense_I30M exm2232966 1 248005142 [T/G] NM_001001959 OR11L1 EXON Missense_N19K exm166930 1 248005162 [G/C] NM_001001959 OR11L1 EXON Missense_Q13E exm166931 1 248005189 [C/G] NM_001001959 OR11L1 EXON Missense_Q4E exm166956 1 248028032 [A/G] NM_015431 TRIM58 EXON Missense_R181H exm166958 1 248028041 [T/G] NM_015431 TRIM58 EXON Missense_L184W exm166961 1 248028098 [A/G] NM_015431 TRIM58 EXON Missense_R203Q exm166965 1 248028119 [T/C] NM_015431 TRIM58 EXON Missense_A210V exm166966 1 248028122 [T/C] NM_015431 TRIM58 EXON Missense_T211M exm166968 1 248028136 [T/C] NM_015431 TRIM58 EXON Missense_R216W exm166973 1 248028200 [A/G] NM_015431 TRIM58 EXON Missense_Q237R exm166975 1 248028215 [A/G] NM_015431 TRIM58 EXON Missense_R242H exm166976 1 248028218 [T/C] NM_015431 TRIM58 EXON Missense_P243L exm166986 1 248039252 [A/G] NM_015431 TRIM58 EXON Missense_A308T exm166989 1 248039294 [A/G] NM_015431 TRIM58 EXON Missense_V322I exm166995 1 248039555 [T/C] NM_015431 TRIM58 EXON Missense_R409C exm1773098 1 248039679 [T/C] NM_015431 TRIM58 EXON Missense_I450T exm-rs3811445 1 248039713 [A/G] NM_015431 TRIM58 EXON Synonymous_T461T exm167009 1 248039789 [T/C] NM_015431 TRIM58 EXON Missense_X487Q exm-rs11204538 1 248046272 [T/C] exm167016 1 248058983 [T/G] NM_001001957 OR2W3 EXON Missense_L32R exm167018 1 248058988 [A/G] NM_001001957 OR2W3 EXON Missense_A34T exm167020 1 248059045 [A/C] NM_001001957 OR2W3 EXON Missense_P53T exm167028 1 248059151 [A/G] NM_001001957 OR2W3 EXON Missense_C88Y exm167035 1 248059253 [A/G] NM_001001957 OR2W3 EXON Missense_R122Q exm1773105 1 248059312 [T/C] NM_001001957 OR2W3 EXON Missense_R142W exm167038 1 248059313 [A/G] NM_001001957 OR2W3 EXON Missense_R142Q exm167040 1 248059394 [G/C] NM_001001957 OR2W3 EXON Missense_C169S exm167043 1 248059423 [T/C] NM_001001957 OR2W3 EXON Missense_R179C exm167046 1 248059435 [A/G] NM_001001957 OR2W3 EXON Missense_A183T exm167048 1 248059456 [A/G] NM_001001957 OR2W3 EXON Missense_V190I exm167049 1 248059476 [A/C] NM_001001957 OR2W3 EXON Missense_E196D exm167050 1 248059483 [A/G] NM_001001957 OR2W3 EXON Missense_V199I exm167051 1 248059496 [T/C] NM_001001957 OR2W3 EXON Missense_A203V exm167055 1 248059603 [A/G] NM_001001957 OR2W3 EXON Missense_G239S exm167065 1 248059736 [T/C] NM_001001957 OR2W3 EXON Missense_P283L exm167069 1 248059798 [T/A] NM_001001957 OR2W3 EXON Missense_L304M exm167073 1 248084321 [T/C] NM_001005522 OR2T8 EXON Missense_M1T exm167074 1 248084324 [T/A] NM_001005522 OR2T8 EXON Missense_E2V exm167077 1 248084375 [C/G] NM_001005522 OR2T8 EXON Missense_T19S exm167146 1 248085207 [C/G] NM_001005522 OR2T8 EXON Missense_K296N exm167149 1 248085233 [A/G] NM_001005522 OR2T8 EXON Missense_R305Q exm167232 1 248128722 [T/C] NM_175911,NM_001004491 OR2L13,OR2AK2 EXON Silent,Missense_V30A exm167233 1 248128725 [A/G] NM_175911,NM_001004491 OR2L13,OR2AK2 EXON Silent,Missense_G31D exm167234 1 248128745 [A/G] NM_175911,NM_001004491 OR2L13,OR2AK2 EXON Silent,Missense_I38V exm1773190 1 248128809 [T/C] NM_175911,NM_001004491 OR2L13,OR2AK2 EXON Silent,Missense_M59T exm167240 1 248128896 [A/T] NM_175911,NM_001004491 OR2L13,OR2AK2 EXON Silent,Missense_Y88F exm167241 1 248128929 [A/G] NM_175911,NM_001004491 OR2L13,OR2AK2 EXON Silent,Missense_S99N exm167243 1 248128983 [T/A] NM_175911,NM_001004491 OR2L13,OR2AK2 EXON Silent,Missense_Y117F exm167246 1 248129037 [A/G] NM_175911,NM_001004491 OR2L13,OR2AK2 EXON Silent,Missense_Y135C exm167255 1 248129192 [T/C] NM_175911,NM_001004491 OR2L13,OR2AK2 EXON Silent,Missense_R187W exm167256 1 248129195 [T/C] NM_175911,NM_001004491 OR2L13,OR2AK2 EXON Silent,Missense_L188F exm167259 1 248129240 [A/G] NM_175911,NM_001004491 OR2L13,OR2AK2 EXON Silent,Missense_V203M exm167262 1 248129304 [T/C] NM_175911,NM_001004491 OR2L13,OR2AK2 EXON Silent,Missense_L224P exm167268 1 248129475 [A/G] NM_175911,NM_001004491 OR2L13,OR2AK2 EXON Silent,Missense_R281H exm167270 1 248129486 [T/C] NM_175911,NM_001004491 OR2L13,OR2AK2 EXON Silent,Missense_R285W exm167272 1 248129501 [A/G] NM_175911,NM_001004491 OR2L13,OR2AK2 EXON Silent,Missense_A290T exm167289 1 248201633 [T/A] NM_175911,NM_001004686 OR2L13,OR2L2 EXON Silent,Missense_I22F exm167303 1 248201836 [T/G] NM_175911,NM_001004686 OR2L13,OR2L2 EXON Silent,Missense_K89N exm167305 1 248201856 [A/G] NM_175911,NM_001004686 OR2L13,OR2L2 EXON Silent,Missense_C96Y exm167310 1 248201885 [T/G] NM_175911,NM_001004686 OR2L13,OR2L2 EXON Silent,Missense_L106V exm2250994 1 248201890 [A/G] NM_175911,NM_001004686 OR2L13,OR2L2 EXON Silent,Synonymous_A107A exm167312 1 248201890 [A/G] NM_175911,NM_001004686 OR2L13,OR2L2 EXON Silent,Synonymous_A107A exm167323 1 248202047 [A/G] NM_175911,NM_001004686 OR2L13,OR2L2 EXON Silent,Missense_V160I exm167327 1 248202123 [T/C] NM_175911,NM_001004686 OR2L13,OR2L2 EXON Silent,Missense_T185M exm167329 1 248202174 [C/G] NM_175911,NM_001004686 OR2L13,OR2L2 EXON Silent,Missense_S202T exm167330 1 248202191 [T/C] NM_175911,NM_001004686 OR2L13,OR2L2 EXON Silent,Missense_L208F exm167336 1 248202233 [A/C] NM_175911,NM_001004686 OR2L13,OR2L2 EXON Silent,Missense_L222I exm2250995 1 248202295 [A/C] NM_175911,NM_001004686 OR2L13,OR2L2 EXON Silent,Synonymous_T242T exm167342 1 248202318 [A/G] NM_175911,NM_001004686 OR2L13,OR2L2 EXON Silent,Missense_Y250C exm167343 1 248202324 [A/C] NM_175911,NM_001004686 OR2L13,OR2L2 EXON Silent,Missense_A252E exm2232975 1 248224384 [A/G] NM_175911,NM_001004687 OR2L13,OR2L3 EXON Silent,Missense_R134H exm2260077 1 248227201 [A/C] NM_175911 OR2L13 Silent exm2232976 1 248262816 [G/C] NM_175911 OR2L13 EXON Missense_L47V exm167427 1 248262825 [G/C] NM_175911 OR2L13 EXON Missense_V50L exm167428 1 248262834 [T/C] NM_175911 OR2L13 EXON Missense_R53C exm2250997 1 248262987 [T/C] NM_175911 OR2L13 EXON Synonymous_L104L exm2273766 1 248262993 [A/G] NM_175911 OR2L13 EXON Missense_M106V exm167440 1 248263024 [C/G] NM_175911 OR2L13 EXON Missense_S116C exm167441 1 248263027 [T/C] NM_175911 OR2L13 EXON Missense_M117T exm167449 1 248263199 [C/G] NM_175911 OR2L13 EXON Missense_D174E exm167451 1 248263255 [T/G] NM_175911 OR2L13 EXON Missense_V193G exm167463 1 248263447 [T/C] NM_175911 OR2L13 EXON Missense_T257I exm167464 1 248263471 [A/G] NM_175911 OR2L13 EXON Missense_R265H exm167466 1 248263495 [T/G] NM_175911 OR2L13 EXON Missense_L273R exm167468 1 248263524 [A/G] NM_175911 OR2L13 EXON Missense_M283V exm167538 1 248309227 [A/G] NM_001004690 OR2M5 EXON Missense_I260V exm167542 1 248309260 [G/C] NM_001004690 OR2M5 EXON Missense_D271H exm1773401 1 248309326 [T/C] NM_001004690 OR2M5 EXON Missense_R293C exm167552 1 248309356 [A/G] NM_001004690 OR2M5 EXON Missense_K303E exm1773402 1 248309363 [A/T] NM_001004690 OR2M5 EXON Nonsense_L305X exm167557 1 248343343 [A/C] NM_001004688 OR2M2 EXON Missense_N19T exm167578 1 248343600 [A/G] NM_001004688 OR2M2 EXON Missense_I105V exm167580 1 248343652 [A/G] NM_001004688 OR2M2 EXON Missense_R122H exm167622 1 248344235 [T/A] NM_001004688 OR2M2 EXON Missense_H316Q exm167630 1 248366370 [A/G] NM_001004689 OR2M3 EXON Missense_M1V exm167637 1 248366400 [A/G] NM_001004689 OR2M3 EXON Missense_D11N exm167640 1 248366425 [A/G] NM_001004689 OR2M3 EXON Missense_N19S exm167654 1 248366682 [A/G] NM_001004689 OR2M3 EXON Missense_T105A exm167688 1 248367255 [A/G] NM_001004689 OR2M3 EXON Missense_E296K exm167691 1 248367306 [T/A] NM_001004689 OR2M3 EXON Missense_X313R exm167697 1 248402317 [T/C] NM_017504 OR2M4 EXON Synonymous_S29S exm2251005 1 248402317 [T/C] NM_017504 OR2M4 EXON Synonymous_S29S exm167706 1 248402579 [G/C] NM_017504 OR2M4 EXON Missense_V117L exm167718 1 248402784 [T/G] NM_017504 OR2M4 EXON Nonsense_L185X exm167719 1 248402799 [T/C] NM_017504 OR2M4 EXON Missense_T190I exm167723 1 248402897 [T/C] NM_017504 OR2M4 EXON Nonsense_R223X exm167732 1 248403015 [A/C] NM_017504 OR2M4 EXON Missense_P262Q exm167733 1 248403030 [T/C] NM_017504 OR2M4 EXON Missense_T267M exm167737 1 248403054 [T/C] NM_017504 OR2M4 EXON Missense_S275L exm167892 1 248458760 [A/C] NM_001004692 OR2T12 EXON Missense_A41S exm167893 1 248458766 [T/C] NM_001004692 OR2T12 EXON Missense_S39G exm167898 1 248458786 [A/G] NM_001004692 OR2T12 EXON Missense_T32I exm167903 1 248458825 [G/C] NM_001004692 OR2T12 EXON Missense_T19S exm167927 1 248487058 [C/G] NM_001004691 OR2M7 EXON Missense_D271E exm2273767 1 248487100 [T/G] NM_001004691 OR2M7 EXON Missense_F257L exm-rs4481887 1 248496863 [A/G] exm2264980 1 248511674 [A/G] exm167987 1 248512255 [T/C] NM_001001918 OR14C36 EXON Missense_F60S exm167992 1 248512354 [T/C] NM_001001918 OR14C36 EXON Missense_A93V exm167995 1 248512380 [A/G] NM_001001918 OR14C36 EXON Missense_V102M exm168005 1 248512498 [A/G] NM_001001918 OR14C36 EXON Missense_Q141R exm1773668 1 248512573 [T/C] NM_001001918 OR14C36 EXON Missense_F166S exm168011 1 248512652 [A/C] NM_001001918 OR14C36 EXON Missense_S192R exm168017 1 248512749 [A/G] NM_001001918 OR14C36 EXON Missense_G225R exm168018 1 248512767 [T/G] NM_001001918 OR14C36 EXON Missense_D231Y exm168022 1 248512842 [C/G] NM_001001918 OR14C36 EXON Missense_V256L exm168028 1 248512990 [T/G] NM_001001918 OR14C36 EXON Missense_R305I exm168031 1 248524890 [A/G] NM_001004696 OR2T4 EXON Missense_N3S exm168038 1 248524967 [A/G] NM_001004696 OR2T4 EXON Missense_M29V exm1773682 1 248525402 [A/C] NM_001004696 OR2T4 EXON Missense_L174I exm168100 1 248525439 [T/G] NM_001004696 OR2T4 EXON Missense_V186G exm168104 1 248525484 [A/G] NM_001004696 OR2T4 EXON Missense_R201H exm168126 1 248525856 [A/G] NM_001004696 OR2T4 EXON Missense_R325K exm168127 1 248525864 [G/C] NM_001004696 OR2T4 EXON Missense_D328H exm168130 1 248525923 [A/G] NM_001004696 OR2T4 EXON Missense_M347I exm168133 1 248550916 [A/G] NM_001005471 OR2T6 EXON Missense_E3K exm168140 1 248550970 [A/G] NM_001005471 OR2T6 EXON Missense_N21D exm168141 1 248550976 [T/G] NM_001005471 OR2T6 EXON Missense_C23G exm168142 1 248550977 [T/G] NM_001005471 OR2T6 EXON Missense_C23F exm168145 1 248551009 [A/G] NM_001005471 OR2T6 EXON Missense_V34I exm168148 1 248551079 [A/C] NM_001005471 OR2T6 EXON Missense_T57N exm168156 1 248551174 [A/G] NM_001005471 OR2T6 EXON Missense_E89K exm168160 1 248551195 [A/G] NM_001005471 OR2T6 EXON Missense_A96T exm168162 1 248551204 [A/G] NM_001005471 OR2T6 EXON Missense_A99T exm168168 1 248551324 [T/C] NM_001005471 OR2T6 EXON Missense_R139W exm168170 1 248551346 [T/C] NM_001005471 OR2T6 EXON Missense_A146V exm168171 1 248551385 [T/C] NM_001005471 OR2T6 EXON Missense_L159P exm168179 1 248551598 [T/C] NM_001005471 OR2T6 EXON Missense_S230L exm168191 1 248551727 [T/A] NM_001005471 OR2T6 EXON Missense_V273D exm168201 1 248569369 [A/G] NM_030904 OR2T1 EXON Missense_H25R exm1773781 1 248569417 [T/C] NM_030904 OR2T1 EXON Missense_I41T exm168221 1 248569674 [A/G] NM_030904 OR2T1 EXON Missense_I127V exm168231 1 248569843 [T/C] NM_030904 OR2T1 EXON Missense_P183L exm168235 1 248569879 [T/C] NM_030904 OR2T1 EXON Missense_I195T exm168238 1 248569903 [G/C] NM_030904 OR2T1 EXON Missense_S203C exm168239 1 248569950 [T/C] NM_030904 OR2T1 EXON Missense_C219R exm168240 1 248569959 [T/C] NM_030904 OR2T1 EXON Missense_R222W exm168241 1 248569960 [A/G] NM_030904 OR2T1 EXON Missense_R222Q exm168242 1 248569978 [T/C] NM_030904 OR2T1 EXON Missense_F228S exm168250 1 248570218 [C/G] NM_030904 OR2T1 EXON Missense_T308S exm168251 1 248570223 [A/G] NM_030904 OR2T1 EXON Missense_M310V exm168262 1 248570383 [C/G] NM_030904 OR2T1 EXON Missense_R363T exm168277 1 248616236 [A/G] NM_001004136 OR2T2 EXON Missense_M46I exm168290 1 248616418 [A/C] NM_001004136 OR2T2 EXON Missense_T107N exm168393 1 248637394 [T/C] NM_001005495 OR2T3 EXON Missense_S248F exm168423 1 248652037 [A/G] NM_001004697 OR2T5 EXON Missense_I50V exm168441 1 248684976 [A/G] NM_001013355 OR2G6 EXON Missense_K10R exm168448 1 248685089 [A/G] NM_001013355 OR2G6 EXON Missense_V48I exm168453 1 248685155 [G/C] NM_001013355 OR2G6 EXON Missense_D70H exm168455 1 248685174 [G/C] NM_001013355 OR2G6 EXON Missense_S76T exm168463 1 248685260 [A/C] NM_001013355 OR2G6 EXON Missense_M105L exm168465 1 248685267 [A/T] NM_001013355 OR2G6 EXON Nonsense_L107X exm1773874 1 248685372 [T/C] NM_001013355 OR2G6 EXON Missense_A142V exm168482 1 248685383 [A/G] NM_001013355 OR2G6 EXON Missense_G146S exm168485 1 248685421 [T/G] NM_001013355 OR2G6 EXON Missense_I158M exm168486 1 248685425 [T/G] NM_001013355 OR2G6 EXON Missense_C160G exm168495 1 248685535 [C/G] NM_001013355 OR2G6 EXON Missense_E196D exm168497 1 248685590 [T/A] NM_001013355 OR2G6 EXON Missense_L215I exm168503 1 248685689 [A/G] NM_001013355 OR2G6 EXON Missense_V248I exm168504 1 248685719 [T/A] NM_001013355 OR2G6 EXON Missense_M258L exm168513 1 248685858 [T/C] NM_001013355 OR2G6 EXON Missense_L304P exm168627 1 248738001 [T/A] NM_001001821 OR2T34 EXON Missense_T20S exm168651 1 248756502 [A/C] NM_001004693 OR2T10 EXON Missense_S190A exm168686 1 248789753 [C/G] NM_001001964 OR2T11 EXON Missense_P226R exm168688 1 248789822 [A/C] NM_001001964 OR2T11 EXON Missense_M203R exm168709 1 248790167 [A/G] NM_001001964 OR2T11 EXON Missense_I88T exm168720 1 248790425 [A/G] NM_001001964 OR2T11 EXON Missense_T2M exm168726 1 248801588 [T/C] NM_001001827 OR2T35 EXON Synonymous_X324X exm168760 1 248802243 [T/G] NM_001001827 OR2T35 EXON Missense_T106N exm2233001 1 248813257 [T/G] NM_001001824 OR2T27 EXON Missense_S310Y exm168804 1 248813498 [T/C] NM_001001824 OR2T27 EXON Missense_E230K exm168859 1 248814080 [A/C] NM_001001824 OR2T27 EXON Missense_L36V exm168876 1 248844695 [T/A] NM_001004734 OR14I1 EXON Missense_V304E exm168878 1 248844711 [T/C] NM_001004734 OR14I1 EXON Missense_M299V exm168885 1 248844851 [A/G] NM_001004734 OR14I1 EXON Missense_T252I exm168887 1 248844915 [T/C] NM_001004734 OR14I1 EXON Missense_S231G exm168894 1 248844959 [T/C] NM_001004734 OR14I1 EXON Missense_Y216C exm168897 1 248845025 [T/C] NM_001004734 OR14I1 EXON Missense_E194G exm168898 1 248845062 [T/C] NM_001004734 OR14I1 EXON Missense_V182M exm168903 1 248845097 [T/C] NM_001004734 OR14I1 EXON Missense_S170N exm168904 1 248845110 [T/C] NM_001004734 OR14I1 EXON Missense_V166I exm168911 1 248845223 [A/T] NM_001004734 OR14I1 EXON Missense_L128H exm168913 1 248845241 [A/G] NM_001004734 OR14I1 EXON Missense_V122A exm168920 1 248845356 [T/G] NM_001004734 OR14I1 EXON Missense_L84M exm168921 1 248845364 [T/C] NM_001004734 OR14I1 EXON Missense_R81H exm2233005 1 248845396 [T/G] NM_001004734 OR14I1 EXON Nonsense_C70X exm168925 1 248845458 [T/C] NM_001004734 OR14I1 EXON Missense_D50N exm168927 1 248845463 [T/G] NM_001004734 OR14I1 EXON Missense_T48N exm168930 1 248845475 [A/G] NM_001004734 OR14I1 EXON Missense_I44T exm168933 1 248845499 [A/G] NM_001004734 OR14I1 EXON Missense_V36A exm168934 1 248845527 [T/C] NM_001004734 OR14I1 EXON Missense_G27R exm168941 1 249106353 [T/C] NM_030645 SH3BP5L EXON Missense_G310R exm168954 1 249107252 [T/C] NM_030645 SH3BP5L EXON Missense_R216Q exm168958 1 249107304 [A/G] NM_030645 SH3BP5L EXON Missense_R199W exm168985 1 249111082 [T/C] NM_030645 SH3BP5L EXON Missense_E62G exm169024 1 249142239 [T/G] NM_024836 ZNF672 EXON Missense_A256S exm169027 1 249142320 [T/C] NM_024836 ZNF672 EXON Missense_H283Y exm169033 1 249142362 [A/G] NM_024836 ZNF672 EXON Missense_D297N exm169064 1 249144696 [T/G] NM_001136036,NM_017865,NM_001193328 ZNF692,ZNF692,ZNF692 EXON Missense_T430P,Missense_T425P,Missense_T380P exm1774186 1 249144933 [T/C] NM_001136036,NM_017865,NM_001193328 ZNF692,ZNF692,ZNF692 EXON Missense_S406G,Missense_S401G,Missense_S356G exm169074 1 249149589 [T/C] NM_001136036,NM_017865,NM_001193328 ZNF692,ZNF692,ZNF692 EXON Missense_Q348R,Missense_Q343R,Missense_Q298R exm169075 1 249149592 [T/C] NM_001136036,NM_017865,NM_001193328 ZNF692,ZNF692,ZNF692 EXON Missense_R347Q,Missense_R342Q,Missense_R297Q exm169079 1 249149802 [A/G] NM_001136036,NM_017865,NM_001193328 ZNF692,ZNF692,ZNF692 EXON Missense_P310L,Missense_P305L,Missense_P260L exm169085 1 249150038 [A/G] NM_001136036,NM_017865,NM_001193328 ZNF692,ZNF692,ZNF692 EXON Missense_P261L,Missense_P256L,Missense_P211L exm169091 1 249150129 [A/G] NM_001136036,NM_017865,NM_001193328 ZNF692,ZNF692,ZNF692 EXON Missense_P231S,Missense_P226S,Missense_P181S exm169097 1 249150486 [T/C] NM_001136036,NM_017865,NM_001193328 ZNF692,ZNF692,ZNF692 Silent,Silent,Silent exm1774198 1 249150577 [T/C] NM_001136036,NM_017865,NM_001193328 ZNF692,ZNF692,ZNF692 EXON Missense_E195G,Missense_E190G,Silent exm169102 1 249150726 [T/C] NM_001136036,NM_017865,NM_001193328 ZNF692,ZNF692,ZNF692 EXON Missense_A176T,Missense_A171T,Missense_A171T exm1774204 1 249151442 [T/C] NM_001136036,NM_017865,NM_001193328 ZNF692,ZNF692,ZNF692 EXON Missense_E161K,Missense_E156K,Missense_E156K exm169107 1 249151478 [A/G] NM_001136036,NM_017865,NM_001193328 ZNF692,ZNF692,ZNF692 EXON Missense_R149W,Missense_R144W,Missense_R144W exm169113 1 249151681 [C/G] NM_001136036,NM_017865,NM_001193328 ZNF692,ZNF692,ZNF692 EXON Missense_P81R,Missense_P76R,Missense_P76R exm1774211 1 249152495 [A/G] NM_001136036,NM_017865,NM_001193328 ZNF692,ZNF692,ZNF692 EXON Missense_P10L,Missense_P5L,Missense_P5L exm169139 1 249210835 [T/G] NM_170725,NM_001017434 PGBD2,PGBD2 EXON Missense_V18L,Silent exm169149 1 249211096 [A/G] NM_170725,NM_001017434 PGBD2,PGBD2 EXON Missense_V105I,Silent exm169152 1 249211157 [A/C] NM_170725,NM_001017434 PGBD2,PGBD2 EXON Missense_T125N,Silent exm169164 1 249211516 [G/C] NM_170725,NM_001017434 PGBD2,PGBD2 EXON Missense_V245L,Silent exm169173 1 249211618 [T/C] NM_170725,NM_001017434 PGBD2,PGBD2 EXON Missense_R279W,Missense_R28W exm169174 1 249211619 [A/G] NM_170725,NM_001017434 PGBD2,PGBD2 EXON Missense_R279Q,Missense_R28Q exm169186 1 249211903 [A/G] NM_170725,NM_001017434 PGBD2,PGBD2 EXON Missense_V374I,Missense_V123I exm169193 1 249212113 [T/C] NM_170725,NM_001017434 PGBD2,PGBD2 EXON Missense_R444W,Missense_R193W exm169195 1 249212120 [A/G] NM_170725,NM_001017434 PGBD2,PGBD2 EXON Missense_Q446R,Missense_Q195R exm169197 1 249212170 [A/G] NM_170725,NM_001017434 PGBD2,PGBD2 EXON Missense_V463I,Missense_V212I exm169206 1 249212393 [A/G] NM_170725,NM_001017434 PGBD2,PGBD2 EXON Missense_R537Q,Missense_R286Q exm169207 1 249212402 [A/G] NM_170725,NM_001017434 PGBD2,PGBD2 EXON Missense_R540Q,Missense_R289Q exm169208 1 249212429 [T/C] NM_170725,NM_001017434 PGBD2,PGBD2 EXON Missense_M549T,Missense_M298T exm804986 10 293358 [A/C] NM_006624,NM_001202465,NM_212479,NM_001202466,NM_001202464,NM_001202468,NM_001202467 ZMYND11,ZMYND11,ZMYND11,ZMYND11,ZMYND11,ZMYND11,ZMYND11 EXON Synonymous_P393P,Synonymous_P308P,Synonymous_P392P,Synonymous_P338P,Synonymous_P339P,Synonymous_P393P,Synonymous_P339P exm2249181 10 293358 [A/C] NM_006624,NM_001202465,NM_212479,NM_001202466,NM_001202464,NM_001202468,NM_001202467 ZMYND11,ZMYND11,ZMYND11,ZMYND11,ZMYND11,ZMYND11,ZMYND11 EXON Synonymous_P393P,Synonymous_P308P,Synonymous_P392P,Synonymous_P338P,Synonymous_P339P,Synonymous_P393P,Synonymous_P339P exm805022 10 327162 [T/C] NM_014974 DIP2C EXON Missense_A1466T exm805090 10 390962 [A/G] NM_014974 DIP2C EXON Missense_T1107M exm805091 10 390983 [A/G] NM_014974 DIP2C EXON Missense_A1100V exm805105 10 394615 [A/G] NM_014974 DIP2C EXON Missense_A1066V exm805131 10 402390 [G/C] NM_014974 DIP2C EXON Missense_I987M exm805136 10 403792 [G/C] NM_014974 DIP2C EXON Missense_I960M exm805156 10 410386 [T/C] NM_014974 DIP2C EXON Missense_R802H exm805166 10 410501 [T/C] NM_014974 DIP2C EXON Missense_G764R exm2271240 10 431161 [T/C] NM_014974 DIP2C Silent exm805212 10 435971 [T/C] NM_014974 DIP2C EXON Synonymous_T519T exm2249233 10 435971 [T/C] NM_014974 DIP2C EXON Synonymous_T519T exm805214 10 435990 [A/G] NM_014974 DIP2C EXON Missense_T513M exm805254 10 465046 [A/G] NM_014974 DIP2C EXON Missense_A233V exm805280 10 486935 [G/C] NM_014974 DIP2C EXON Missense_D90E exm2271370 10 521431 [T/C] NM_014974 DIP2C Silent exm2271241 10 833528 [T/G] exm805329 10 858924 [A/G] NM_015155 LARP4B EXON Missense_S720L exm805338 10 859047 [A/C] NM_015155 LARP4B EXON Missense_C679F exm805350 10 860687 [T/C] NM_015155 LARP4B EXON Missense_A642T exm805354 10 860726 [T/C] NM_015155 LARP4B EXON Missense_T629A exm805360 10 860970 [A/G] NM_015155 LARP4B EXON Missense_V579A exm805378 10 871110 [G/C] NM_015155 LARP4B EXON Missense_T460S exm805386 10 871746 [A/G] NM_015155 LARP4B EXON Missense_A397V exm805392 10 875350 [A/G] NM_015155 LARP4B EXON Missense_T367M exm805400 10 888899 [T/C] NM_015155 LARP4B EXON Missense_V207M exm805401 10 888916 [T/C] NM_015155 LARP4B EXON Missense_K201R exm805413 10 909757 [A/G] NM_015155 LARP4B EXON Missense_S119L exm805415 10 909766 [A/G] NM_015155 LARP4B EXON Missense_P116L exm805420 10 910074 [T/C] NM_015155 LARP4B EXON Missense_R93H exm805421 10 910081 [T/C] NM_015155 LARP4B EXON Missense_A91T exm805430 10 931618 [A/G] NM_015155 LARP4B EXON Missense_T15M exm805431 10 931631 [T/C] NM_015155 LARP4B EXON Missense_A11T exm2216580 10 1034433 [A/G] NM_012341 GTPBP4 EXON Missense_N5S exm805440 10 1034457 [G/C] NM_012341 GTPBP4 EXON Missense_P13R exm805444 10 1038440 [A/C] NM_012341 GTPBP4 EXON Missense_D20E exm805447 10 1038477 [A/G] NM_012341 GTPBP4 EXON Missense_V33I exm805460 10 1042148 [C/G] NM_012341 GTPBP4 EXON Missense_K142N exm805465 10 1043174 [A/G] NM_012341 GTPBP4 EXON Missense_T163A exm805473 10 1045035 [A/G] NM_012341 GTPBP4 EXON Synonymous_Q218Q exm805480 10 1046705 [A/G] NM_012341 GTPBP4 EXON Missense_R248H exm805492 10 1046935 [A/T] NM_012341 GTPBP4 EXON Missense_E298D exm805495 10 1051758 [A/G] NM_012341 GTPBP4 EXON Missense_K305E exm805500 10 1052983 [A/G] NM_012341 GTPBP4 EXON Missense_R343Q exm805502 10 1053004 [A/G] NM_012341 GTPBP4 EXON Missense_G350E exm805506 10 1053067 [A/C] NM_012341 GTPBP4 EXON Missense_K371T exm805511 10 1054898 [A/G] NM_012341 GTPBP4 EXON Missense_E372K exm805515 10 1054946 [A/G] NM_012341 GTPBP4 EXON Missense_M388V exm805523 10 1058406 [A/G] NM_012341 GTPBP4 EXON Missense_K449R exm805527 10 1058534 [A/C] NM_012341 GTPBP4 EXON Missense_K492Q exm805536 10 1060218 [A/G] NM_012341 GTPBP4 EXON Missense_R525H exm805549 10 1061765 [G/C] NM_012341 GTPBP4 EXON Missense_P561A exm805554 10 1061836 [A/G] NM_012341 GTPBP4 EXON Synonymous_K584K exm805556 10 1063015 [T/A] NM_012341 GTPBP4 EXON Missense_M585L exm805558 10 1063038 [C/G] NM_012341 GTPBP4 EXON Missense_M592I exm805577 10 1065603 [A/G] NM_033261 IDI2 EXON Missense_W180R exm805582 10 1065710 [T/C] NM_033261 IDI2 EXON Nonsense_W144X exm805583 10 1065722 [G/C] NM_033261 IDI2 EXON Nonsense_S140X exm2249023 10 1066710 [T/C] NM_033261 IDI2 EXON Synonymous_E121E exm805588 10 1066743 [A/C] NM_033261 IDI2 EXON Missense_R110S exm805594 10 1066823 [A/G] NM_033261 IDI2 EXON Missense_S84P exm805605 10 1070548 [T/C] NM_033261,NR_027709,NR_027708,NR_024629,NR_024628 IDI2,IDI2-AS1,IDI2-AS1,IDI2-AS1,IDI2-AS1 EXON Missense_C39Y,Silent,Silent,Silent,Silent exm2216683 10 1070617 [T/C] NM_033261,NR_027709,NR_027708,NR_024629,NR_024628 IDI2,IDI2-AS1,IDI2-AS1,IDI2-AS1,IDI2-AS1 EXON Missense_R16H,Silent,Silent,Silent,Silent exm805609 10 1070618 [A/G] NM_033261,NR_027709,NR_027708,NR_024629,NR_024628 IDI2,IDI2-AS1,IDI2-AS1,IDI2-AS1,IDI2-AS1 EXON Missense_R16C,Silent,Silent,Silent,Silent exm805610 10 1070621 [A/G] NM_033261,NR_027709,NR_027708,NR_024629,NR_024628 IDI2,IDI2-AS1,IDI2-AS1,IDI2-AS1,IDI2-AS1 EXON Nonsense_Q15X,Silent,Silent,Silent,Silent exm805618 10 1087257 [T/G] NR_027709,NR_027708,NR_024629,NR_024628,NM_004508 IDI2-AS1,IDI2-AS1,IDI2-AS1,IDI2-AS1,IDI1 EXON Silent,Silent,Silent,Silent,Missense_K242T exm805627 10 1088647 [G/C] NR_027709,NR_027708,NR_024629,NR_024628,NM_004508 IDI2-AS1,IDI2-AS1,IDI2-AS1,IDI2-AS1,IDI1 EXON Silent,Silent,Silent,Silent,Missense_E154D exm805645 10 1094831 [A/G] NM_004508 IDI1 EXON Missense_A38V exm805658 10 1123920 [A/G] NM_014023 WDR37 EXON Missense_N71S exm805674 10 1130477 [T/C] NM_014023 WDR37 EXON Synonymous_A177A exm805676 10 1132232 [T/C] NM_014023 WDR37 EXON Missense_T180M exm805700 10 1149690 [T/G] NM_014023 WDR37 EXON Missense_G292V exm805709 10 1151138 [T/C] NM_014023 WDR37 EXON Missense_T345M exm-rs10794720 10 1156165 [T/C] NM_014023 WDR37 Silent exm805712 10 1170158 [T/C] NM_014023 WDR37 EXON Synonymous_D368D exm805715 10 1170220 [T/C] NM_014023 WDR37 EXON Missense_T389M exm2266952 10 1207809 [A/G] NR_015376 LINC00200 Silent exm805776 10 1229282 [T/C] NM_018702 ADARB2 EXON Missense_D691N exm805783 10 1230814 [T/C] NM_018702 ADARB2 EXON Missense_R677Q exm805786 10 1230824 [A/G] NM_018702 ADARB2 EXON Missense_R674W exm805788 10 1230874 [T/C] NM_018702 ADARB2 EXON Missense_R657Q exm805796 10 1230952 [A/G] NM_018702 ADARB2 EXON Missense_P631L exm805798 10 1230959 [A/G] NM_018702 ADARB2 EXON Missense_R629C exm805800 10 1230968 [T/C] NM_018702 ADARB2 EXON Missense_A626T exm805809 10 1245930 [A/G] NM_018702 ADARB2 EXON Missense_R614W exm805826 10 1262895 [T/C] NM_018702 ADARB2 EXON Missense_A560T exm805839 10 1263039 [T/C] NM_018702 ADARB2 EXON Missense_V512I exm805845 10 1279672 [T/C] NM_018702 ADARB2 EXON Missense_A493T exm805847 10 1279718 [C/G] NM_018702 ADARB2 EXON Missense_E477D exm1674299 10 1279752 [A/G] NM_018702 ADARB2 EXON Missense_V466A exm805849 10 1279753 [T/C] NM_018702 ADARB2 EXON Missense_V466M exm805854 10 1279779 [T/C] NM_018702 ADARB2 EXON Missense_R457H exm805856 10 1279782 [T/C] NM_018702 ADARB2 EXON Missense_R456Q exm805860 10 1284236 [A/G] NM_018702 ADARB2 EXON Missense_A440V exm805861 10 1284249 [T/C] NM_018702 ADARB2 EXON Missense_V436M exm805863 10 1284303 [T/C] NM_018702 ADARB2 EXON Missense_G418S exm805864 10 1284336 [T/C] NM_018702 ADARB2 EXON Missense_V407M exm805871 10 1313185 [T/C] NM_018702 ADARB2 EXON Missense_R386H exm-rs11250464 10 1406364 [T/C] NM_018702 ADARB2 Silent exm2259557 10 1412238 [T/C] NM_018702 ADARB2 Silent exm805925 10 1421270 [A/G] NM_018702 ADARB2 EXON Synonymous_L62L exm805930 10 1421326 [T/C] NM_018702 ADARB2 EXON Missense_A44T exm-rs9787568 10 1462457 [T/C] NM_018702 ADARB2 Silent exm-rs2999399 10 1630821 [T/C] NM_018702 ADARB2 Silent exm2249140 10 1654279 [T/C] NM_018702 ADARB2 Silent exm-rs6560749 10 1676531 [T/G] NM_018702 ADARB2 Silent exm2271243 10 2088596 [T/C] exm2267072 10 2348123 [A/G] NR_038884 LINC00701 Silent exm2271244 10 2466713 [T/C] exm-rs11251469 10 2766921 [A/G] exm2259578 10 3008619 [A/G] exm2249192 10 3097212 [T/C] exm805978 10 3143161 [A/G] NM_002627,NM_001242339 PFKP,PFKP EXON Silent,Missense_R70H exm805983 10 3143582 [A/G] NM_002627,NM_001242339 PFKP,PFKP EXON Missense_R97Q,Missense_R89Q exm805988 10 3143612 [A/G] NM_002627,NM_001242339 PFKP,PFKP EXON Missense_R107H,Missense_R99H exm805998 10 3143705 [A/G] NM_002627,NM_001242339 PFKP,PFKP EXON Missense_R138Q,Missense_R130Q exm806001 10 3143745 [T/C] NM_002627,NM_001242339 PFKP,PFKP EXON Synonymous_N151N,Synonymous_N143N exm806002 10 3143746 [A/G] NM_002627,NM_001242339 PFKP,PFKP EXON Missense_G152S,Missense_G144S exm806006 10 3145991 [A/G] NM_002627,NM_001242339 PFKP,PFKP EXON Missense_V159M,Missense_V151M exm806008 10 3146001 [A/G] NM_002627,NM_001242339 PFKP,PFKP EXON Missense_Y162C,Missense_Y154C exm806017 10 3146059 [T/C] NM_002627,NM_001242339 PFKP,PFKP EXON Synonymous_T181T,Synonymous_T173T exm2249194 10 3146059 [T/C] NM_002627,NM_001242339 PFKP,PFKP EXON Synonymous_T181T,Synonymous_T173T exm806062 10 3151644 [G/C] NM_002627,NM_001242339 PFKP,PFKP EXON Missense_R354P,Missense_R346P exm1678750 10 3151656 [A/T] NM_002627,NM_001242339 PFKP,PFKP EXON Missense_M358K,Missense_M350K exm806065 10 3154433 [T/C] NM_002627,NM_001242339 PFKP,PFKP EXON Missense_A370V,Missense_A362V exm806084 10 3155570 [A/T] NM_002627,NM_001242339 PFKP,PFKP EXON Missense_C411S,Missense_C403S exm2217111 10 3155642 [T/G] NM_002627,NM_001242339 PFKP,PFKP EXON Missense_V435L,Missense_V427L exm806089 10 3155654 [A/G] NM_002627,NM_001242339 PFKP,PFKP EXON Missense_D439N,Missense_D431N exm2249195 10 3155698 [T/C] NM_002627,NM_001242339 PFKP,PFKP EXON Synonymous_F453F,Synonymous_F445F exm806116 10 3162130 [A/G] NM_002627,NM_001242339 PFKP,PFKP EXON Missense_E526G,Missense_E518G exm806126 10 3162237 [A/G] NM_002627,NM_001242339 PFKP,PFKP Silent,Silent exm806135 10 3172012 [A/C] NM_002627,NM_001242339 PFKP,PFKP EXON Missense_T562N,Missense_T554N exm806137 10 3172020 [T/C] NM_002627,NM_001242339 PFKP,PFKP EXON Missense_R565C,Missense_R557C exm806181 10 3176766 [A/G] NM_002627,NM_001242339 PFKP,PFKP EXON Missense_R705Q,Missense_R697Q exm2249197 10 3177944 [T/C] NM_002627,NM_001242339 PFKP,PFKP EXON Synonymous_T713T,Synonymous_T705T exm806194 10 3178017 [A/C] NM_002627,NM_001242339 PFKP,PFKP EXON Missense_Q738K,Missense_Q730K exm806195 10 3178021 [T/C] NM_002627,NM_001242339 PFKP,PFKP EXON Missense_T739M,Missense_T731M exm806201 10 3178656 [A/C] NM_002627,NM_001242339 PFKP,PFKP EXON Missense_K747T,Missense_K739T exm2249198 10 3178723 [T/C] NM_002627,NM_001242339 PFKP,PFKP EXON Synonymous_D769D,Synonymous_D761D exm806206 10 3178723 [T/C] NM_002627,NM_001242339 PFKP,PFKP EXON Synonymous_D769D,Synonymous_D761D exm806233 10 3180227 [T/C] NM_014889,NM_001242307,NM_001242309 PITRM1,PITRM1,PITRM1 EXON Missense_Q1037R,Missense_Q1038R,Missense_Q939R exm806234 10 3180228 [A/G] NM_014889,NM_001242307,NM_001242309 PITRM1,PITRM1,PITRM1 EXON Nonsense_Q1037X,Nonsense_Q1038X,Nonsense_Q939X exm2249199 10 3180289 [A/G] NM_014889,NM_001242307,NM_001242309 PITRM1,PITRM1,PITRM1 EXON Synonymous_H1016H,Synonymous_H1017H,Synonymous_H918H exm806242 10 3180316 [T/C] NM_014889,NM_001242307,NM_001242309 PITRM1,PITRM1,PITRM1 EXON Synonymous_R1007R,Synonymous_R1008R,Synonymous_R909R exm806244 10 3180441 [T/C] NM_014889,NM_001242307,NM_001242309 PITRM1,PITRM1,PITRM1 EXON Synonymous_L1002L,Synonymous_L1003L,Synonymous_L904L exm2249200 10 3180441 [T/C] NM_014889,NM_001242307,NM_001242309 PITRM1,PITRM1,PITRM1 EXON Synonymous_L1002L,Synonymous_L1003L,Synonymous_L904L exm806254 10 3181107 [A/G] NM_014889,NM_001242307,NM_001242309 PITRM1,PITRM1,PITRM1 EXON Missense_P969L,Missense_P970L,Missense_P871L exm806257 10 3181126 [T/C] NM_014889,NM_001242307,NM_001242309 PITRM1,PITRM1,PITRM1 EXON Missense_V963I,Missense_V964I,Missense_V865I exm806262 10 3181157 [G/C] NM_014889,NM_001242307,NM_001242309 PITRM1,PITRM1,PITRM1 EXON Missense_I952M,Missense_I953M,Missense_I854M exm806263 10 3181186 [T/C] NM_014889,NM_001242307,NM_001242309 PITRM1,PITRM1,PITRM1 EXON Missense_K943E,Missense_K944E,Missense_K845E exm806264 10 3181188 [A/G] NM_014889,NM_001242307,NM_001242309 PITRM1,PITRM1,PITRM1 EXON Missense_A942V,Missense_A943V,Missense_A844V exm806274 10 3183003 [A/G] NM_014889,NM_001242307,NM_001242309 PITRM1,PITRM1,PITRM1 EXON Missense_L883F,Missense_L884F,Missense_L785F exm806276 10 3185599 [A/G] NM_014889,NM_001242307,NM_001242309,NR_038284 PITRM1,PITRM1,PITRM1,PITRM1-AS1 EXON Missense_T876M,Missense_T877M,Missense_T778M,Silent exm806277 10 3185609 [T/C] NM_014889,NM_001242307,NM_001242309,NR_038284 PITRM1,PITRM1,PITRM1,PITRM1-AS1 EXON Missense_V873I,Missense_V874I,Missense_V775I,Silent exm806278 10 3185622 [T/G] NM_014889,NM_001242307,NM_001242309,NR_038284 PITRM1,PITRM1,PITRM1,PITRM1-AS1 EXON Missense_E868D,Missense_E869D,Missense_E770D,Silent exm806280 10 3185641 [A/G] NM_014889,NM_001242307,NM_001242309,NR_038284 PITRM1,PITRM1,PITRM1,PITRM1-AS1 EXON Missense_P862L,Missense_P863L,Missense_P764L,Silent exm806292 10 3187831 [T/C] NM_014889,NM_001242307,NM_001242309,NR_038284 PITRM1,PITRM1,PITRM1,PITRM1-AS1 EXON Missense_R805Q,Missense_R806Q,Missense_R707Q,Silent exm806297 10 3189343 [T/A] NM_014889,NM_001242307,NM_001242309,NR_038284 PITRM1,PITRM1,PITRM1,PITRM1-AS1 EXON Missense_R779W,Missense_R780W,Missense_R681W,Silent exm806298 10 3189379 [A/G] NM_014889,NM_001242307,NM_001242309,NR_038284 PITRM1,PITRM1,PITRM1,PITRM1-AS1 EXON Missense_R767C,Missense_R768C,Missense_R669C,Silent exm806305 10 3189442 [A/C] NM_014889,NM_001242307,NM_001242309,NR_038284 PITRM1,PITRM1,PITRM1,PITRM1-AS1 EXON Missense_V746L,Missense_V747L,Missense_V648L,Silent exm806306 10 3189763 [T/C] NM_014889,NM_001242307,NM_001242309,NR_038284 PITRM1,PITRM1,PITRM1,PITRM1-AS1 EXON Silent,Silent,Silent,Silent exm806311 10 3189807 [A/G] NM_014889,NM_001242307,NM_001242309,NR_038284 PITRM1,PITRM1,PITRM1,PITRM1-AS1 EXON Missense_T731M,Missense_T732M,Missense_T633M,Silent exm806312 10 3189816 [T/C] NM_014889,NM_001242307,NM_001242309,NR_038284 PITRM1,PITRM1,PITRM1,PITRM1-AS1 EXON Missense_R728Q,Missense_R729Q,Missense_R630Q,Silent exm806318 10 3190211 [C/G] NM_014889,NM_001242307,NM_001242309,NR_038284 PITRM1,PITRM1,PITRM1,PITRM1-AS1 EXON Missense_D679E,Missense_D680E,Silent,Silent exm806322 10 3190380 [T/C] NM_014889,NM_001242307,NM_001242309,NR_038284 PITRM1,PITRM1,PITRM1,PITRM1-AS1 EXON Missense_M659V,Missense_M659V,Silent,Silent exm806328 10 3191823 [T/C] NM_014889,NM_001242307,NM_001242309 PITRM1,PITRM1,PITRM1 EXON Missense_V621I,Missense_V621I,Missense_V589I exm806333 10 3191901 [T/C] NM_014889,NM_001242307,NM_001242309 PITRM1,PITRM1,PITRM1 EXON Missense_M595V,Missense_M595V,Missense_M563V exm806340 10 3193451 [T/C] NM_014889,NM_001242307,NM_001242309 PITRM1,PITRM1,PITRM1 EXON Missense_V576M,Missense_V576M,Missense_V544M exm806342 10 3193456 [A/G] NM_014889,NM_001242307,NM_001242309 PITRM1,PITRM1,PITRM1 EXON Missense_L574S,Missense_L574S,Missense_L542S exm806343 10 3193516 [T/G] NM_014889,NM_001242307,NM_001242309 PITRM1,PITRM1,PITRM1 EXON Missense_A554D,Missense_A554D,Missense_A522D exm806345 10 3193544 [A/G] NM_014889,NM_001242307,NM_001242309 PITRM1,PITRM1,PITRM1 EXON Missense_R545W,Missense_R545W,Missense_R513W exm806349 10 3197856 [G/C] NM_014889,NM_001242307,NM_001242309 PITRM1,PITRM1,PITRM1 EXON Missense_Q516H,Missense_Q516H,Missense_Q484H exm806351 10 3197902 [A/G] NM_014889,NM_001242307,NM_001242309 PITRM1,PITRM1,PITRM1 EXON Missense_T501I,Missense_T501I,Missense_T469I exm806357 10 3199703 [T/C] NM_014889,NM_001242307,NM_001242309 PITRM1,PITRM1,PITRM1 EXON Missense_R424Q,Missense_R424Q,Missense_R392Q exm806360 10 3200257 [A/C] NM_014889,NM_001242307,NM_001242309 PITRM1,PITRM1,PITRM1 EXON Missense_D409Y,Missense_D409Y,Missense_D377Y exm806362 10 3200292 [A/G] NM_014889,NM_001242307,NM_001242309 PITRM1,PITRM1,PITRM1 EXON Missense_A397V,Missense_A397V,Missense_A365V exm806369 10 3201136 [T/C] NM_014889,NM_001242307,NM_001242309 PITRM1,PITRM1,PITRM1 EXON Missense_G369D,Missense_G369D,Missense_G337D exm806372 10 3202059 [T/C] NM_014889,NM_001242307,NM_001242309 PITRM1,PITRM1,PITRM1 EXON Missense_V330I,Missense_V330I,Missense_V298I exm806373 10 3202065 [T/C] NM_014889,NM_001242307,NM_001242309 PITRM1,PITRM1,PITRM1 EXON Missense_I328V,Missense_I328V,Missense_I296V exm806378 10 3202491 [A/G] NM_014889,NM_001242307,NM_001242309 PITRM1,PITRM1,PITRM1 EXON Nonsense_Q275X,Nonsense_Q275X,Nonsense_Q243X exm1678915 10 3206008 [A/C] NM_014889,NM_001242307,NM_001242309 PITRM1,PITRM1,PITRM1 EXON Missense_V234F,Missense_V234F,Missense_V202F exm806383 10 3206019 [A/G] NM_014889,NM_001242307,NM_001242309 PITRM1,PITRM1,PITRM1 EXON Missense_T230M,Missense_T230M,Missense_T198M exm806388 10 3207479 [A/G] NM_014889,NM_001242307,NM_001242309 PITRM1,PITRM1,PITRM1 EXON Missense_T194M,Missense_T194M,Missense_T162M exm806391 10 3207632 [A/G] NM_014889,NM_001242307,NM_001242309 PITRM1,PITRM1,PITRM1 EXON Missense_F169S,Missense_F169S,Missense_F137S exm806412 10 3212315 [T/C] NM_014889,NM_001242307,NM_001242309 PITRM1,PITRM1,PITRM1 EXON Missense_H47R,Missense_H47R,Silent exm806414 10 3212358 [T/C] NM_014889,NM_001242307,NM_001242309 PITRM1,PITRM1,PITRM1 EXON Missense_A33T,Missense_A33T,Silent exm806415 10 3212360 [T/C] NM_014889,NM_001242307,NM_001242309 PITRM1,PITRM1,PITRM1 EXON Missense_R32Q,Missense_R32Q,Silent exm806418 10 3212382 [T/C] NM_014889,NM_001242307,NM_001242309 PITRM1,PITRM1,PITRM1 EXON Missense_A25T,Missense_A25T,Silent exm2271246 10 3249111 [T/C] exm-rs2165468 10 3516105 [A/C] exm2267074 10 3806376 [A/G] exm2249220 10 3823906 [T/C] NM_001160125,NM_001300,NR_027653,NM_001160124 KLF6,KLF6,KLF6,KLF6 EXON Synonymous_R201R,Synonymous_R201R,Silent,Silent exm806447 10 3824016 [T/C] NM_001160125,NM_001300,NR_027653,NM_001160124 KLF6,KLF6,KLF6,KLF6 EXON Missense_V165M,Missense_V165M,Silent,Missense_V165M exm806452 10 3824144 [A/G] NM_001160125,NM_001300,NR_027653,NM_001160124 KLF6,KLF6,KLF6,KLF6 EXON Missense_T122M,Missense_T122M,Silent,Missense_T122M exm806454 10 3824253 [A/G] NM_001160125,NM_001300,NR_027653,NM_001160124 KLF6,KLF6,KLF6,KLF6 EXON Missense_P86S,Missense_P86S,Silent,Missense_P86S exm-rs6601764 10 3862542 [T/C] exm2249224 10 3948928 [A/G] exm-rs2031577 10 4050003 [A/G] exm2259591 10 4286897 [A/G] exm-rs10458787 10 4655565 [A/G] exm-rs1391511 10 4719796 [A/G] NR_024475 LINC00704 Silent exm2271248 10 4769379 [T/C] exm806476 10 4872930 [A/G] NM_001271021,NR_073126,NR_073127,NM_001271025,NR_073125,NM_001040177 AKR1E2,AKR1E2,AKR1E2,AKR1E2,AKR1E2,AKR1E2 EXON Missense_D35N,Silent,Silent,Missense_D35N,Silent,Missense_D35N exm806478 10 4872973 [T/G] NM_001271021,NR_073126,NR_073127,NM_001271025,NR_073125,NM_001040177 AKR1E2,AKR1E2,AKR1E2,AKR1E2,AKR1E2,AKR1E2 EXON Missense_G49V,Silent,Silent,Missense_G49V,Silent,Missense_G49V exm806480 10 4872981 [T/G] NM_001271021,NR_073126,NR_073127,NM_001271025,NR_073125,NM_001040177 AKR1E2,AKR1E2,AKR1E2,AKR1E2,AKR1E2,AKR1E2 EXON Missense_C52G,Silent,Silent,Missense_C52G,Silent,Missense_C52G exm806485 10 4875551 [A/C] NM_001271021,NR_073126,NR_073127,NM_001271025,NR_073125,NM_001040177 AKR1E2,AKR1E2,AKR1E2,AKR1E2,AKR1E2,AKR1E2 EXON Missense_T73P,Silent,Silent,Missense_T73P,Silent,Missense_T73P exm806487 10 4875591 [A/G] NM_001271021,NR_073126,NR_073127,NM_001271025,NR_073125,NM_001040177 AKR1E2,AKR1E2,AKR1E2,AKR1E2,AKR1E2,AKR1E2 EXON Missense_K86R,Silent,Silent,Missense_K86R,Silent,Missense_K86R exm806493 10 4877871 [G/C] NM_001271021,NR_073126,NR_073127,NM_001271025,NR_073125,NM_001040177 AKR1E2,AKR1E2,AKR1E2,AKR1E2,AKR1E2,AKR1E2 EXON Missense_P110R,Silent,Silent,Missense_P110R,Silent,Missense_P110R exm806505 10 4879741 [T/C] NM_001271021,NR_073126,NR_073127,NM_001271025,NR_073125,NM_001040177 AKR1E2,AKR1E2,AKR1E2,AKR1E2,AKR1E2,AKR1E2 EXON Missense_P184S,Silent,Silent,Silent,Silent,Missense_P184S exm806506 10 4879748 [T/G] NM_001271021,NR_073126,NR_073127,NM_001271025,NR_073125,NM_001040177 AKR1E2,AKR1E2,AKR1E2,AKR1E2,AKR1E2,AKR1E2 EXON Missense_L186W,Silent,Silent,Silent,Silent,Missense_L186W exm806507 10 4879755 [A/C] NM_001271021,NR_073126,NR_073127,NM_001271025,NR_073125,NM_001040177 AKR1E2,AKR1E2,AKR1E2,AKR1E2,AKR1E2,AKR1E2 EXON Missense_F188L,Silent,Silent,Silent,Silent,Missense_F188L exm806509 10 4879774 [A/G] NM_001271021,NR_073126,NR_073127,NM_001271025,NR_073125,NM_001040177 AKR1E2,AKR1E2,AKR1E2,AKR1E2,AKR1E2,AKR1E2 Silent,Silent,Silent,Silent,Silent,Silent exm806511 10 4881945 [C/G] NM_001271021,NR_073126,NR_073127,NM_001271025,NR_073125,NM_001040177 AKR1E2,AKR1E2,AKR1E2,AKR1E2,AKR1E2,AKR1E2 EXON Silent,Silent,Silent,Silent,Silent,Missense_Q203E exm2249257 10 4884031 [T/C] NM_001271021,NR_073126,NR_073127,NM_001271025,NR_073125,NM_001040177 AKR1E2,AKR1E2,AKR1E2,AKR1E2,AKR1E2,AKR1E2 EXON Silent,Silent,Silent,Silent,Silent,Synonymous_H245H exm806519 10 4884039 [A/C] NM_001271021,NR_073126,NR_073127,NM_001271025,NR_073125,NM_001040177 AKR1E2,AKR1E2,AKR1E2,AKR1E2,AKR1E2,AKR1E2 EXON Silent,Silent,Silent,Silent,Silent,Missense_S248Y exm806526 10 4884698 [T/G] NM_001271021,NR_073126,NR_073127,NM_001271025,NR_073125,NM_001040177 AKR1E2,AKR1E2,AKR1E2,AKR1E2,AKR1E2,AKR1E2 Silent,Silent,Silent,Silent,Silent,Silent exm806531 10 4889403 [T/C] NM_001271021,NR_073126,NR_073127,NM_001271025,NR_073125,NM_001040177 AKR1E2,AKR1E2,AKR1E2,AKR1E2,AKR1E2,AKR1E2 EXON Nonsense_R244X,Silent,Silent,Nonsense_R203X,Silent,Nonsense_R301X exm806532 10 4889421 [A/G] NM_001271021,NR_073126,NR_073127,NM_001271025,NR_073125,NM_001040177 AKR1E2,AKR1E2,AKR1E2,AKR1E2,AKR1E2,AKR1E2 EXON Missense_I250V,Silent,Silent,Missense_I209V,Silent,Missense_I307V exm1680558 10 4889685 [A/G] NM_001271021,NR_073126,NR_073127,NM_001271025,NR_073125,NM_001040177 AKR1E2,AKR1E2,AKR1E2,AKR1E2,AKR1E2,AKR1E2 EXON Missense_K252R,Silent,Silent,Missense_K211R,Silent,Missense_K309R exm-rs12774134 10 4963327 [T/C] exm806560 10 5008137 [A/G] NM_001353 AKR1C1 EXON Missense_K39R exm806566 10 5008167 [T/C] NM_001353 AKR1C1 EXON Missense_I49T exm806569 10 5008181 [T/G] NM_001353 AKR1C1 EXON Missense_L54V exm806570 10 5008183 [A/T] NM_001353 AKR1C1 EXON Missense_L54F exm806588 10 5011017 [A/G] NM_001353 AKR1C1 EXON Missense_V151M exm806659 10 5040936 [T/C] NM_205845,NM_001354 AKR1C2,AKR1C2 EXON Missense_M151V,Missense_M151V exm806673 10 5042839 [T/C] NM_205845,NM_001354,NM_001135241 AKR1C2,AKR1C2,AKR1C2 EXON Missense_R91Q,Missense_R91Q,Missense_R91Q exm806679 10 5043778 [G/C] NM_205845,NM_001354,NM_001135241 AKR1C2,AKR1C2,AKR1C2 EXON Missense_Q60H,Missense_Q60H,Missense_Q60H exm806680 10 5043792 [T/C] NM_205845,NM_001354,NM_001135241 AKR1C2,AKR1C2,AKR1C2 EXON Missense_N56D,Missense_N56D,Missense_N56D exm806682 10 5043821 [T/A] NM_205845,NM_001354,NM_001135241 AKR1C2,AKR1C2,AKR1C2 EXON Missense_F46Y,Missense_F46Y,Missense_F46Y exm806684 10 5043846 [T/C] NM_205845,NM_001354,NM_001135241 AKR1C2,AKR1C2,AKR1C2 EXON Missense_V38I,Missense_V38I,Missense_V38I exm2271249 10 5068113 [T/G] exm2259601 10 5115907 [T/G] NM_001253908 AKR1C3 Silent exm806695 10 5136654 [G/C] NM_001253908,NM_003739,NM_001253909 AKR1C3,AKR1C3,AKR1C3 EXON Silent,Missense_Q6H,Missense_Q6H exm806712 10 5139626 [T/C] NM_001253908,NM_003739,NM_001253909 AKR1C3,AKR1C3,AKR1C3 EXON Missense_L85F,Missense_L85F,Missense_L85F exm806713 10 5139642 [A/G] NM_001253908,NM_003739,NM_001253909 AKR1C3,AKR1C3,AKR1C3 EXON Missense_H90R,Missense_H90R,Missense_H90R exm806714 10 5139644 [T/C] NM_001253908,NM_003739,NM_001253909 AKR1C3,AKR1C3,AKR1C3 EXON Nonsense_R91X,Nonsense_R91X,Nonsense_R91X exm2217267 10 5141058 [A/G] NM_001253908,NM_003739 AKR1C3,AKR1C3 EXON Missense_C145Y,Missense_C145Y exm806736 10 5141609 [T/C] NM_001253908,NM_003739 AKR1C3,AKR1C3 EXON Missense_P180S,Missense_P180S exm806739 10 5141642 [A/G] NM_001253908,NM_003739 AKR1C3,AKR1C3 Silent,Silent exm806742 10 5144306 [T/C] NM_001253908,NM_003739 AKR1C3,AKR1C3 EXON Missense_P195L,Missense_P195L exm806745 10 5144318 [A/G] NM_001253908,NM_003739 AKR1C3,AKR1C3 EXON Missense_R199Q,Missense_R199Q exm806761 10 5147809 [T/C] NM_001253908,NM_003739 AKR1C3,AKR1C3 EXON Missense_A290V,Missense_A290V exm806767 10 5147869 [C/G] NM_001253908,NM_003739 AKR1C3,AKR1C3 EXON Missense_S310T,Missense_S310T exm-rs10795250 10 5164836 [A/G] exm806854 10 5247754 [A/G] NM_001818 AKR1C4 EXON Missense_G135E exm806856 10 5247784 [C/G] NM_001818 AKR1C4 EXON Missense_S145C exm-rs1832007 10 5254847 [A/G] NM_001818 AKR1C4 Silent exm806871 10 5255003 [A/G] NM_001818 AKR1C4 EXON Missense_A243T exm806872 10 5255025 [A/G] NM_001818 AKR1C4 EXON Missense_Q250R exm806874 10 5255063 [T/C] NM_001818 AKR1C4 EXON Missense_R263C exm806883 10 5260682 [G/C] NM_001818 AKR1C4 EXON Missense_L311V exm806894 10 5415798 [A/G] NM_053049 UCN3 EXON Missense_A39T exm806901 10 5415894 [A/G] NM_053049 UCN3 EXON Missense_E71K exm806905 10 5415931 [T/C] NM_053049 UCN3 EXON Missense_I83T exm806906 10 5415948 [A/G] NM_053049 UCN3 EXON Missense_G89R exm806907 10 5415954 [A/G] NM_053049 UCN3 EXON Missense_R91G exm806909 10 5415964 [A/G] NM_053049 UCN3 EXON Missense_R94Q exm806914 10 5416075 [T/C] NM_053049 UCN3 EXON Missense_M131T exm806921 10 5416128 [A/G] NM_053049 UCN3 EXON Missense_A149T exm806932 10 5435493 [A/G] NM_001171864,NM_024803 TUBAL3,TUBAL3 EXON Missense_A403V,Missense_A443V exm1681444 10 5435602 [A/C] NM_001171864,NM_024803 TUBAL3,TUBAL3 EXON Missense_A367S,Missense_A407S exm806941 10 5435683 [A/G] NM_001171864,NM_024803 TUBAL3,TUBAL3 EXON Missense_R340W,Missense_R380W exm806944 10 5435724 [A/G] NM_001171864,NM_024803 TUBAL3,TUBAL3 EXON Missense_P326L,Missense_P366L exm806948 10 5435783 [C/G] NM_001171864,NM_024803 TUBAL3,TUBAL3 EXON Missense_H306Q,Missense_H346Q exm806949 10 5435796 [A/G] NM_001171864,NM_024803 TUBAL3,TUBAL3 EXON Missense_T302M,Missense_T342M exm806951 10 5435803 [T/C] NM_001171864,NM_024803 TUBAL3,TUBAL3 EXON Missense_A300T,Missense_A340T exm806953 10 5435823 [T/C] NM_001171864,NM_024803 TUBAL3,TUBAL3 EXON Missense_K293R,Missense_K333R exm806954 10 5435827 [A/G] NM_001171864,NM_024803 TUBAL3,TUBAL3 EXON Missense_P292S,Missense_P332S exm806963 10 5435983 [T/C] NM_001171864,NM_024803 TUBAL3,TUBAL3 EXON Missense_A240T,Missense_A280T exm806965 10 5436009 [A/C] NM_001171864,NM_024803 TUBAL3,TUBAL3 EXON Missense_R231I,Missense_R271I exm806967 10 5436073 [A/G] NM_001171864,NM_024803 TUBAL3,TUBAL3 EXON Missense_R210W,Missense_R250W exm806969 10 5436097 [T/C] NM_001171864,NM_024803 TUBAL3,TUBAL3 EXON Missense_V202I,Missense_V242I exm806970 10 5436102 [T/C] NM_001171864,NM_024803 TUBAL3,TUBAL3 EXON Missense_Q200R,Missense_Q240R exm806973 10 5436157 [A/G] NM_001171864,NM_024803 TUBAL3,TUBAL3 EXON Missense_R182C,Missense_R222C exm806974 10 5436175 [C/G] NM_001171864,NM_024803 TUBAL3,TUBAL3 EXON Missense_V176L,Missense_V216L exm1681452 10 5436201 [T/C] NM_001171864,NM_024803 TUBAL3,TUBAL3 EXON Missense_C167Y,Missense_C207Y exm806977 10 5436207 [A/G] NM_001171864,NM_024803 TUBAL3,TUBAL3 EXON Missense_T165M,Missense_T205M exm806988 10 5436385 [A/G] NM_001171864,NM_024803 TUBAL3,TUBAL3 EXON Nonsense_R106X,Nonsense_R146X exm806999 10 5437345 [T/C] NM_001171864,NM_024803 TUBAL3,TUBAL3 EXON Missense_R74H,Missense_R114H exm807000 10 5437351 [T/C] NM_001171864,NM_024803 TUBAL3,TUBAL3 EXON Missense_R72Q,Missense_R112Q exm807005 10 5437382 [T/C] NM_001171864,NM_024803 TUBAL3,TUBAL3 EXON Missense_G62R,Missense_G102R exm807009 10 5437414 [C/G] NM_001171864,NM_024803 TUBAL3,TUBAL3 EXON Missense_R51P,Missense_R91P exm807012 10 5437426 [A/G] NM_001171864,NM_024803 TUBAL3,TUBAL3 EXON Missense_T47M,Missense_T87M exm1681455 10 5437430 [A/G] NM_001171864,NM_024803 TUBAL3,TUBAL3 EXON Missense_R46W,Missense_R86W exm807013 10 5442831 [T/C] NM_001171864,NM_024803 TUBAL3,TUBAL3 EXON Missense_V35M,Missense_V75M exm807015 10 5442851 [T/C] NM_001171864,NM_024803 TUBAL3,TUBAL3 EXON Missense_H28R,Missense_H68R exm807018 10 5442951 [T/C] NM_001171864,NM_024803 TUBAL3,TUBAL3 EXON Silent,Missense_V35I exm807021 10 5443007 [A/G] NM_001171864,NM_024803 TUBAL3,TUBAL3 EXON Silent,Missense_I16T exm2274391 10 5443028 [A/G] NM_001171864,NM_024803 TUBAL3,TUBAL3 EXON Silent,Missense_I9T exm807038 10 5471143 [A/G] NM_001047160 NET1 EXON Missense_R69H exm807039 10 5471164 [T/A] NM_001047160 NET1 EXON Missense_V76D exm807044 10 5488814 [A/G] NM_001047160,NM_005863,NR_073040 NET1,NET1,NET1 EXON Silent,Missense_E29G,Silent exm807053 10 5494334 [A/G] NM_001047160,NM_005863,NR_073040 NET1,NET1,NET1 EXON Missense_R126H,Missense_R72H,Silent exm2249281 10 5495218 [T/C] NM_001047160,NM_005863,NR_073040 NET1,NET1,NET1 EXON Synonymous_Y200Y,Synonymous_Y146Y,Silent exm807078 10 5497065 [A/G] NM_001047160,NM_005863,NR_073040 NET1,NET1,NET1 EXON Missense_R394Q,Missense_R340Q,Silent exm807084 10 5498102 [T/C] NM_001047160,NM_005863,NR_073040 NET1,NET1,NET1 EXON Missense_T417I,Missense_T363I,Silent exm2249282 10 5498681 [A/G] NM_001047160,NM_005863,NR_073040 NET1,NET1,NET1 EXON Synonymous_S505S,Synonymous_S451S,Silent exm807105 10 5498724 [A/G] NM_001047160,NM_005863,NR_073040 NET1,NET1,NET1 EXON Missense_E520K,Missense_E466K,Silent exm807107 10 5498752 [T/C] NM_001047160,NM_005863,NR_073040 NET1,NET1,NET1 EXON Missense_A529V,Missense_A475V,Silent exm807110 10 5498805 [A/G] NM_001047160,NM_005863,NR_073040 NET1,NET1,NET1 EXON Missense_V547I,Missense_V493I,Silent exm807113 10 5498824 [T/C] NM_001047160,NM_005863,NR_073040 NET1,NET1,NET1 EXON Missense_A553V,Missense_A499V,Silent exm807114 10 5498856 [A/G] NM_001047160,NM_005863,NR_073040 NET1,NET1,NET1 EXON Missense_E564K,Missense_E510K,Silent exm807118 10 5498938 [A/G] NM_001047160,NM_005863,NR_073040 NET1,NET1,NET1 EXON Missense_R591Q,Missense_R537Q,Silent exm807121 10 5541032 [A/G] NM_017422 CALML5 EXON Missense_R124C exm807131 10 5541230 [T/C] NM_017422 CALML5 EXON Missense_S58G exm807133 10 5541248 [A/G] NM_017422 CALML5 EXON Missense_L52F exm807135 10 5541277 [T/C] NM_017422 CALML5 EXON Missense_K42R exm807142 10 5541326 [T/C] NM_017422 CALML5 EXON Missense_G26S exm807143 10 5541332 [T/C] NM_017422 CALML5 EXON Missense_G24R exm807144 10 5541335 [T/C] NM_017422 CALML5 EXON Missense_D23N exm807145 10 5541337 [A/G] NM_017422 CALML5 EXON Missense_T22M exm807150 10 5567111 [T/C] NM_005185 CALML3 EXON Synonymous_D21D exm2249284 10 5567111 [T/C] NM_005185 CALML3 EXON Synonymous_D21D exm807153 10 5567142 [G/C] NM_005185 CALML3 EXON Missense_E32Q exm807177 10 5682694 [T/C] NM_024701,NR_024581,NR_037164 ASB13,ASB13,ASB13 EXON Missense_R270Q,Silent,Silent exm807181 10 5683731 [A/C] NM_024701,NR_024581,NR_037164 ASB13,ASB13,ASB13 Silent,Silent,Silent exm807197 10 5683909 [A/G] NM_024701,NR_024581,NR_037164 ASB13,ASB13,ASB13 EXON Missense_A178V,Silent,Silent exm807199 10 5690938 [T/C] NM_024701,NR_024581,NR_037164 ASB13,ASB13,ASB13 EXON Missense_N171S,Silent,Silent exm807200 10 5690941 [A/T] NM_024701,NR_024581,NR_037164 ASB13,ASB13,ASB13 EXON Missense_L170H,Silent,Silent exm807203 10 5690972 [A/G] NM_024701,NR_024581,NR_037164 ASB13,ASB13,ASB13 EXON Missense_R160W,Silent,Silent exm807206 10 5691034 [A/C] NM_024701,NR_024581,NR_037164 ASB13,ASB13,ASB13 EXON Missense_V139G,Silent,Silent exm807207 10 5691048 [C/G] NM_024701,NR_024581,NR_037164 ASB13,ASB13,ASB13 EXON Missense_R134S,Silent,Silent exm2266954 10 5705900 [A/G] NM_024701,NR_024581,NR_037164 ASB13,ASB13,ASB13 Silent,Silent,Silent exm1681688 10 5762725 [T/C] NM_017782 FAM208B EXON Missense_R12C exm807242 10 5762876 [T/G] NM_017782 FAM208B EXON Missense_R30L exm807258 10 5768870 [A/G] NM_017782 FAM208B EXON Missense_D125G exm807261 10 5769050 [T/C] NM_017782 FAM208B EXON Missense_H151Y exm807269 10 5772536 [A/C] NM_017782 FAM208B EXON Missense_K192Q exm1681703 10 5772716 [T/G] NM_017782 FAM208B EXON Missense_C252G exm807283 10 5772824 [T/C] NM_017782 FAM208B EXON Missense_P288S exm807286 10 5772920 [A/T] NM_017782 FAM208B EXON Missense_T320S exm807289 10 5773026 [T/C] NM_017782 FAM208B EXON Missense_M355T exm807290 10 5773034 [A/G] NM_017782 FAM208B EXON Missense_M358V exm807301 10 5777432 [A/G] NM_017782 FAM208B EXON Missense_K457R exm807305 10 5781628 [T/G] NM_017782 FAM208B EXON Missense_C499G exm1681711 10 5781716 [A/G] NM_017782 FAM208B EXON Missense_N528S exm807315 10 5781800 [A/T] NM_017782 FAM208B EXON Missense_N556I exm807316 10 5781802 [A/C] NM_017782 FAM208B EXON Missense_L557I exm807319 10 5781902 [T/C] NM_017782 FAM208B EXON Missense_T590I exm807322 10 5781967 [A/C] NM_017782 FAM208B EXON Missense_T612P exm807324 10 5782022 [A/C] NM_017782 FAM208B EXON Missense_A630D exm807329 10 5782115 [T/C] NM_017782 FAM208B EXON Missense_T661I exm807330 10 5782130 [A/G] NM_017782 FAM208B EXON Missense_K666R exm807338 10 5782310 [A/G] NM_017782 FAM208B EXON Missense_R726H exm807345 10 5784151 [A/G] NM_017782 FAM208B EXON Missense_I807V exm807346 10 5784185 [A/G] NM_017782 FAM208B EXON Missense_S818N exm807357 10 5784473 [A/G] NM_017782 FAM208B EXON Missense_C914Y exm807363 10 5788197 [T/C] NM_017782 FAM208B EXON Missense_S938L exm807364 10 5788200 [A/G] NM_017782 FAM208B EXON Missense_G939D exm807372 10 5788373 [A/G] NM_017782 FAM208B EXON Missense_G997S exm807377 10 5788538 [A/G] NM_017782 FAM208B EXON Missense_I1052V exm807379 10 5788583 [G/C] NM_017782 FAM208B EXON Missense_E1067Q exm807380 10 5788608 [G/C] NM_017782 FAM208B EXON Missense_R1075P exm2217300 10 5788667 [T/C] NM_017782 FAM208B EXON Missense_P1095S exm807383 10 5788680 [T/C] NM_017782 FAM208B EXON Missense_S1099L exm807392 10 5788833 [G/C] NM_017782 FAM208B EXON Missense_S1150C exm807396 10 5788878 [T/C] NM_017782 FAM208B EXON Missense_A1165V exm807397 10 5788887 [C/G] NM_017782 FAM208B EXON Missense_S1168C exm2217302 10 5789000 [A/G] NM_017782 FAM208B EXON Missense_V1206M exm807422 10 5789429 [A/G] NM_017782 FAM208B EXON Missense_V1349M exm807435 10 5789691 [A/G] NM_017782 FAM208B EXON Missense_N1436S exm807442 10 5789867 [T/C] NM_017782 FAM208B EXON Missense_L1495F exm807445 10 5789907 [A/G] NM_017782 FAM208B EXON Missense_H1508R exm2217304 10 5790116 [T/C] NM_017782 FAM208B EXON Missense_P1578S exm807459 10 5790279 [A/C] NM_017782 FAM208B EXON Missense_Q1632P exm807465 10 5790420 [T/C] NM_017782 FAM208B EXON Missense_V1679A exm807469 10 5790579 [T/C] NM_017782 FAM208B EXON Missense_T1732M exm1681748 10 5790663 [C/G] NM_017782 FAM208B EXON Missense_T1760R exm807471 10 5790711 [T/C] NM_017782 FAM208B EXON Missense_V1776A exm807472 10 5790729 [T/C] NM_017782 FAM208B EXON Missense_T1782I exm807473 10 5790738 [A/G] NM_017782 FAM208B EXON Missense_C1785Y exm807487 10 5790890 [A/G] NM_017782 FAM208B EXON Missense_G1836S exm807488 10 5790915 [T/A] NM_017782 FAM208B EXON Missense_D1844V exm807494 10 5791052 [A/G] NM_017782 FAM208B EXON Missense_E1890K exm807500 10 5791121 [A/G] NM_017782 FAM208B EXON Missense_V1913I exm807502 10 5791198 [C/G] NM_017782 FAM208B EXON Missense_M1938I exm807505 10 5791211 [A/G] NM_017782 FAM208B EXON Missense_G1943S exm1681757 10 5791298 [G/C] NM_017782 FAM208B EXON Missense_Q1972E exm807509 10 5791299 [A/G] NM_017782 FAM208B EXON Missense_Q1972R exm807510 10 5791326 [A/G] NM_017782 FAM208B EXON Missense_R1981H exm807511 10 5791364 [T/G] NM_017782 FAM208B EXON Missense_D1994Y exm807518 10 5791578 [T/G] NM_017782 FAM208B EXON Missense_S2065I exm807529 10 5791895 [A/G] NM_017782 FAM208B EXON Missense_V2171I exm807531 10 5791979 [A/G] NM_017782 FAM208B EXON Missense_V2199I exm807539 10 5799613 [A/G] NM_017782 FAM208B EXON Missense_K2288R exm807544 10 5800947 [A/T] NM_017782 FAM208B EXON Missense_E2328D exm807546 10 5803274 [C/G] NM_017782 FAM208B EXON Missense_K2338N exm807548 10 5803368 [A/G] NM_017782 FAM208B EXON Missense_I2370V exm1681780 10 5804509 [T/C] NM_017782 FAM208B EXON Missense_P2397S exm807553 10 5804510 [A/C] NM_017782 FAM208B EXON Missense_P2397H exm807555 10 5804531 [A/G] NM_017782 FAM208B EXON Missense_S2404N exm807596 10 5827884 [T/C] NM_001494,NM_001115156 GDI2,GDI2 EXON Missense_K173R,Missense_K128R exm807601 10 5836849 [A/G] NM_001494,NM_001115156 GDI2,GDI2 EXON Synonymous_S129S,Silent exm-rs2380205 10 5886734 [T/C] exm807623 10 5920121 [T/C] NM_019046,NM_001009941,NM_001009943 ANKRD16,ANKRD16,ANKRD16 EXON Missense_Q353R,Missense_Q353R,Silent exm807628 10 5920195 [T/C] NM_019046,NM_001009941,NM_001009943 ANKRD16,ANKRD16,ANKRD16 EXON Synonymous_Q328Q,Synonymous_Q328Q,Missense_S302N exm807632 10 5920244 [T/C] NM_019046,NM_001009941,NM_001009943 ANKRD16,ANKRD16,ANKRD16 EXON Missense_H312R,Missense_H312R,Missense_I286V exm807638 10 5925016 [T/C] NM_019046,NM_001009941,NM_001009943 ANKRD16,ANKRD16,ANKRD16 EXON Missense_V268M,Missense_V268M,Missense_V268M exm807654 10 5925973 [A/C] NM_019046,NM_001009941,NM_001009943 ANKRD16,ANKRD16,ANKRD16 EXON Missense_G216W,Missense_G216W,Missense_G216W exm807660 10 5926032 [T/C] NM_019046,NM_001009941,NM_001009943 ANKRD16,ANKRD16,ANKRD16 EXON Missense_Y196C,Missense_Y196C,Missense_Y196C exm807672 10 5929962 [C/G] NM_019046,NM_001009941,NM_001009943 ANKRD16,ANKRD16,ANKRD16 EXON Missense_A128G,Missense_A128G,Missense_A128G exm807677 10 5931011 [T/C] NM_019046,NM_001009941,NM_001009943 ANKRD16,ANKRD16,ANKRD16 EXON Missense_A103T,Missense_A103T,Missense_A103T exm807680 10 5931134 [T/C] NM_019046,NM_001009941,NM_001009943 ANKRD16,ANKRD16,ANKRD16 EXON Missense_M62V,Missense_M62V,Missense_M62V exm807681 10 5931158 [G/C] NM_019046,NM_001009941,NM_001009943 ANKRD16,ANKRD16,ANKRD16 EXON Missense_A54P,Missense_A54P,Missense_A54P exm1681852 10 5937039 [C/G] NM_001258452,NM_001258453,NM_178150,NM_032807 FBXO18,FBXO18,FBXO18,FBXO18 EXON Silent,Silent,Silent,Missense_V15L exm807701 10 5937094 [A/G] NM_001258452,NM_001258453,NM_178150,NM_032807 FBXO18,FBXO18,FBXO18,FBXO18 EXON Silent,Silent,Silent,Missense_H33R exm807710 10 5945091 [T/C] NM_001258452,NM_001258453,NM_178150,NM_032807 FBXO18,FBXO18,FBXO18,FBXO18 EXON Silent,Silent,Nonsense_R85X,Missense_P88L exm807712 10 5945129 [A/G] NM_001258452,NM_001258453,NM_178150,NM_032807 FBXO18,FBXO18,FBXO18,FBXO18 EXON Silent,Silent,Synonymous_E97E,Missense_G101R exm2217313 10 5948222 [T/C] NM_001258452,NM_001258453,NM_178150,NM_032807 FBXO18,FBXO18,FBXO18,FBXO18 EXON Missense_S53F,Missense_S53F,Synonymous_L175L,Missense_S178F exm807728 10 5948356 [T/C] NM_001258452,NM_001258453,NM_178150,NM_032807 FBXO18,FBXO18,FBXO18,FBXO18 EXON Missense_R98W,Missense_R98W,Synonymous_L219L,Missense_R223W exm807763 10 5955763 [A/G] NM_001258452,NM_001258453,NM_178150,NM_032807 FBXO18,FBXO18,FBXO18,FBXO18 EXON Missense_Q348R,Missense_Q348R,Missense_R470G,Missense_Q473R exm807777 10 5957470 [A/G] NM_001258452,NM_001258453,NM_178150,NM_032807 FBXO18,FBXO18,FBXO18,FBXO18 EXON Missense_V427I,Missense_V427I,Synonymous_A548A,Missense_V552I exm807778 10 5957531 [A/G] NM_001258452,NM_001258453,NM_178150,NM_032807 FBXO18,FBXO18,FBXO18,FBXO18 EXON Missense_R447Q,Missense_R447Q,Missense_G569R,Missense_R572Q exm1681889 10 5959469 [T/C] NM_001258452,NM_001258453,NM_178150,NM_032807 FBXO18,FBXO18,FBXO18,FBXO18 EXON Synonymous_D551D,Synonymous_D551D,Missense_T673M,Synonymous_D676D exm807817 10 5965620 [A/G] NM_001258452,NM_001258453,NM_178150,NM_032807 FBXO18,FBXO18,FBXO18,FBXO18 EXON Missense_I713V,Missense_I713V,Missense_I834M,Missense_I838V exm807847 10 5978535 [C/G] NM_001258452,NM_001258453,NM_178150,NM_032807 FBXO18,FBXO18,FBXO18,FBXO18 EXON Missense_K925N,Missense_K908N,Missense_S1030T,Missense_K1033N exm-rs2669130 10 5982577 [T/C] exm807866 10 5995147 [T/C] NR_046362,NM_001243539,NM_001256765,NM_002189,NM_172200 IL15RA,IL15RA,IL15RA,IL15RA,IL15RA EXON Silent,Missense_V203I,Missense_V325I,Missense_V239I,Missense_V206I exm807874 10 5998405 [A/G] NR_046362,NM_001243539,NM_001256765,NM_002189,NM_172200 IL15RA,IL15RA,IL15RA,IL15RA,IL15RA EXON Silent,Missense_T174M,Missense_T296M,Missense_T210M,Missense_T177M exm-rs3136618 10 6001696 [T/C] NR_046362,NM_001243539,NM_001256765,NM_002189,NM_172200 IL15RA,IL15RA,IL15RA,IL15RA,IL15RA Silent,Silent,Silent,Silent,Silent exm807880 10 6002368 [T/G] NR_046362,NM_001243539,NM_001256765,NM_002189,NM_172200 IL15RA,IL15RA,IL15RA,IL15RA,IL15RA EXON Silent,Missense_N146T,Missense_N268T,Missense_N182T,Missense_N149T exm807884 10 6002459 [T/G] NR_046362,NM_001243539,NM_001256765,NM_002189,NM_172200 IL15RA,IL15RA,IL15RA,IL15RA,IL15RA EXON Silent,Missense_L116M,Missense_L238M,Missense_L152M,Missense_L119M exm807885 10 6002470 [A/G] NR_046362,NM_001243539,NM_001256765,NM_002189,NM_172200 IL15RA,IL15RA,IL15RA,IL15RA,IL15RA EXON Silent,Missense_P112L,Missense_P234L,Missense_P148L,Missense_P115L exm807887 10 6002518 [A/G] NR_046362,NM_001243539,NM_001256765,NM_002189,NM_172200 IL15RA,IL15RA,IL15RA,IL15RA,IL15RA EXON Silent,Missense_S96L,Missense_S218L,Missense_S132L,Missense_S99L exm807890 10 6005727 [T/C] NR_046362,NM_001243539,NM_001256765,NM_002189,NM_172200 IL15RA,IL15RA,IL15RA,IL15RA,IL15RA EXON Silent,Missense_S85G,Missense_S207G,Missense_S121G,Silent exm807894 10 6005799 [G/C] NR_046362,NM_001243539,NM_001256765,NM_002189,NM_172200 IL15RA,IL15RA,IL15RA,IL15RA,IL15RA EXON Silent,Missense_P61A,Missense_P183A,Missense_P97A,Silent exm807904 10 6008251 [T/C] NR_046362,NM_001243539,NM_001256765,NM_002189,NM_172200 IL15RA,IL15RA,IL15RA,IL15RA,IL15RA EXON Silent,Missense_K11R,Missense_K133R,Missense_K47R,Missense_K47R exm807905 10 6008255 [T/C] NR_046362,NM_001243539,NM_001256765,NM_002189,NM_172200 IL15RA,IL15RA,IL15RA,IL15RA,IL15RA EXON Silent,Missense_V10I,Missense_V132I,Missense_V46I,Missense_V46I exm807907 10 6008296 [A/G] NR_046362,NM_001243539,NM_001256765,NM_002189,NM_172200 IL15RA,IL15RA,IL15RA,IL15RA,IL15RA EXON Silent,Silent,Missense_T118M,Missense_T32M,Missense_T32M exm807915 10 6054839 [A/G] NM_000417 IL2RA EXON Missense_I272T exm807919 10 6060053 [T/C] NM_000417 IL2RA EXON Missense_V253I exm807926 10 6061427 [C/G] NM_000417 IL2RA EXON Missense_E231Q exm807953 10 6066242 [T/C] NM_000417 IL2RA EXON Missense_S111N exm807954 10 6066277 [T/A] NM_000417 IL2RA EXON Missense_E99D exm807955 10 6066302 [A/G] NM_000417 IL2RA EXON Missense_T91M exm2266955 10 6088699 [A/G] NM_000417 IL2RA Silent exm-rs706779 10 6098824 [T/C] NM_000417 IL2RA Silent exm-rs706778 10 6098949 [T/C] NM_000417 IL2RA Silent exm-rs2104286 10 6099045 [T/C] NM_000417 IL2RA Silent exm-rs3118470 10 6101713 [T/C] NM_000417 IL2RA Silent exm-rs12722489 10 6102012 [T/C] NM_000417 IL2RA Silent exm-rs12251307 10 6123495 [T/C] exm808024 10 6255624 [A/G] NM_001145443,NM_004566 PFKFB3,PFKFB3 EXON Missense_V19I,Missense_V39I exm808034 10 6257261 [A/G] NM_001145443,NM_004566 PFKFB3,PFKFB3 EXON Missense_E74K,Missense_E94K exm808037 10 6257276 [T/C] NM_001145443,NM_004566 PFKFB3,PFKFB3 EXON Missense_R79W,Missense_R99W exm808046 10 6259099 [T/C] NM_001145443,NM_004566 PFKFB3,PFKFB3 EXON Missense_A128V,Missense_A148V exm808070 10 6262817 [T/C] NM_001145443,NM_004566 PFKFB3,PFKFB3 EXON Missense_R254W,Missense_R274W exm808086 10 6263662 [T/C] NM_001145443,NM_004566 PFKFB3,PFKFB3 EXON Missense_A326V,Missense_A346V exm808099 10 6265956 [A/G] NM_001145443,NM_004566 PFKFB3,PFKFB3 EXON Missense_V397I,Missense_V417I exm808108 10 6268177 [T/C] NM_001145443,NM_004566 PFKFB3,PFKFB3 EXON Missense_P435L,Missense_P455L exm2249303 10 6268277 [T/C] NM_001145443,NM_004566 PFKFB3,PFKFB3 EXON Synonymous_A468A,Synonymous_A488A exm2249304 10 6274890 [T/C] NM_001145443,NM_004566 PFKFB3,PFKFB3 EXON Synonymous_S496S,Synonymous_S516S exm-rs947474 10 6390450 [A/G] exm-rs4750316 10 6393260 [C/G] exm808140 10 6470255 [T/C] NM_001242413,NM_006257 PRKCQ,PRKCQ EXON Missense_D616N,Missense_D679N exm808146 10 6472782 [T/C] NM_001242413,NM_006257 PRKCQ,PRKCQ EXON Missense_R589Q,Missense_R652Q exm808152 10 6472833 [T/C] NM_001242413,NM_006257 PRKCQ,PRKCQ EXON Missense_R572Q,Missense_R635Q exm-rs11258747 10 6472891 [T/G] NM_001242413,NM_006257 PRKCQ,PRKCQ EXON Synonymous_R553R,Synonymous_R616R exm1682592 10 6484028 [T/C] NM_001242413,NM_006257 PRKCQ,PRKCQ EXON Silent,Missense_K555E exm808169 10 6506284 [G/C] NM_001242413,NM_006257 PRKCQ,PRKCQ EXON Missense_S479C,Missense_S479C exm808173 10 6520963 [A/G] NM_001242413,NM_006257 PRKCQ,PRKCQ EXON Synonymous_F448F,Synonymous_F448F exm808178 10 6525521 [T/C] NM_001242413,NM_006257 PRKCQ,PRKCQ EXON Missense_D354N,Missense_D354N exm808180 10 6527143 [A/G] NM_001242413,NM_006257 PRKCQ,PRKCQ EXON Missense_P330L,Missense_P330L exm808186 10 6527221 [A/G] NM_001242413,NM_006257 PRKCQ,PRKCQ EXON Missense_L304S,Missense_L304S exm808198 10 6539017 [T/C] NM_001242413,NM_006257 PRKCQ,PRKCQ EXON Missense_I214V,Missense_I214V exm808212 10 6540431 [T/C] NM_001242413,NM_006257 PRKCQ,PRKCQ EXON Missense_V157I,Missense_V157I exm808214 10 6540487 [C/G] NM_001242413,NM_006257 PRKCQ,PRKCQ EXON Missense_G138A,Missense_G138A exm808243 10 6557071 [A/C] NM_001242413,NM_006257 PRKCQ,PRKCQ EXON Missense_L9F,Missense_L9F exm2259619 10 6572225 [T/C] NM_001242413,NM_006257 PRKCQ,PRKCQ Silent,Silent exm-rs6602217 10 6946263 [T/C] exm2266956 10 7011967 [A/G] exm808259 10 7213000 [T/C] NM_001029880,NM_001018039 SFMBT2,SFMBT2 EXON Missense_E812K,Missense_E812K exm808260 10 7213014 [A/G] NM_001029880,NM_001018039 SFMBT2,SFMBT2 EXON Missense_T807M,Missense_T807M exm808289 10 7214505 [A/C] NM_001029880,NM_001018039 SFMBT2,SFMBT2 EXON Missense_Q701H,Missense_Q701H exm808296 10 7214584 [C/G] NM_001029880,NM_001018039 SFMBT2,SFMBT2 EXON Missense_P675R,Missense_P675R exm2217400 10 7218107 [T/C] NM_001029880,NM_001018039 SFMBT2,SFMBT2 EXON Missense_R610K,Missense_R610K exm808304 10 7230598 [A/G] NM_001029880,NM_001018039 SFMBT2,SFMBT2 EXON Missense_T599M,Missense_T599M exm808314 10 7239629 [T/A] NM_001029880,NM_001018039 SFMBT2,SFMBT2 EXON Missense_C527S,Missense_C527S exm1684020 10 7262397 [A/G] NM_001029880,NM_001018039 SFMBT2,SFMBT2 EXON Missense_R436W,Missense_R436W exm808328 10 7262415 [T/C] NM_001029880,NM_001018039 SFMBT2,SFMBT2 EXON Missense_V430I,Missense_V430I exm808330 10 7262489 [T/C] NM_001029880,NM_001018039 SFMBT2,SFMBT2 EXON Missense_S405N,Missense_S405N exm808331 10 7269821 [T/C] NM_001029880,NM_001018039 SFMBT2,SFMBT2 EXON Missense_R400Q,Missense_R400Q exm808339 10 7285591 [T/C] NM_001029880,NM_001018039 SFMBT2,SFMBT2 EXON Missense_H350R,Missense_H350R exm808341 10 7285601 [T/C] NM_001029880,NM_001018039 SFMBT2,SFMBT2 EXON Missense_M347V,Missense_M347V exm808349 10 7290605 [T/C] NM_001029880,NM_001018039 SFMBT2,SFMBT2 EXON Missense_A293T,Missense_A293T exm808370 10 7409686 [A/T] NM_001029880,NM_001018039 SFMBT2,SFMBT2 EXON Missense_C121S,Missense_C121S exm808380 10 7412243 [A/G] NM_001029880,NM_001018039 SFMBT2,SFMBT2 EXON Synonymous_H65H,Synonymous_H65H exm808392 10 7423829 [T/G] NM_001029880,NM_001018039 SFMBT2,SFMBT2 EXON Missense_Q11P,Missense_Q11P exm808400 10 7605101 [A/G] NM_030569,NM_032817 ITIH5,ITIH5 EXON Missense_F925S,Missense_F711S exm808405 10 7605146 [T/C] NM_030569,NM_032817 ITIH5,ITIH5 EXON Missense_N910S,Missense_N696S exm808408 10 7605243 [T/C] NM_030569,NM_032817 ITIH5,ITIH5 EXON Missense_V878I,Missense_V664I exm808410 10 7605263 [A/G] NM_030569,NM_032817 ITIH5,ITIH5 EXON Missense_V871A,Missense_V657A exm808417 10 7608070 [A/G] NM_030569,NM_032817 ITIH5,ITIH5 EXON Missense_A817V,Missense_A603V exm808426 10 7608301 [T/A] NM_030569,NM_032817 ITIH5,ITIH5 EXON Missense_Y740F,Missense_Y526F exm808433 10 7611670 [T/C] NM_030569,NM_032817 ITIH5,ITIH5 EXON Missense_G704R,Missense_G490R exm808434 10 7611678 [G/C] NM_030569,NM_032817 ITIH5,ITIH5 EXON Missense_G701A,Missense_G487A exm808451 10 7618440 [T/C] NM_030569,NM_032817,NM_001001851 ITIH5,ITIH5,ITIH5 EXON Missense_V652M,Missense_V438M,Missense_V652M exm808457 10 7618509 [A/G] NM_030569,NM_032817,NM_001001851 ITIH5,ITIH5,ITIH5 EXON Missense_R629C,Missense_R415C,Missense_R629C exm808460 10 7618556 [T/C] NM_030569,NM_032817,NM_001001851 ITIH5,ITIH5,ITIH5 EXON Missense_R613H,Missense_R399H,Missense_R613H exm808461 10 7618557 [G/C] NM_030569,NM_032817,NM_001001851 ITIH5,ITIH5,ITIH5 EXON Missense_R613G,Missense_R399G,Missense_R613G exm808462 10 7618569 [A/C] NM_030569,NM_032817,NM_001001851 ITIH5,ITIH5,ITIH5 EXON Missense_A609S,Missense_A395S,Missense_A609S exm808463 10 7618583 [T/C] NM_030569,NM_032817,NM_001001851 ITIH5,ITIH5,ITIH5 EXON Missense_R604Q,Missense_R390Q,Missense_R604Q exm808478 10 7618686 [T/G] NM_030569,NM_032817,NM_001001851 ITIH5,ITIH5,ITIH5 EXON Missense_T570P,Missense_T356P,Missense_T570P exm808481 10 7618739 [A/G] NM_030569,NM_032817,NM_001001851 ITIH5,ITIH5,ITIH5 EXON Missense_A552V,Missense_A338V,Missense_A552V exm808483 10 7618776 [T/C] NM_030569,NM_032817,NM_001001851 ITIH5,ITIH5,ITIH5 EXON Missense_I540V,Missense_I326V,Missense_I540V exm808493 10 7618934 [T/C] NM_030569,NM_032817,NM_001001851 ITIH5,ITIH5,ITIH5 EXON Missense_R487H,Missense_R273H,Missense_R487H exm808494 10 7618952 [A/G] NM_030569,NM_032817,NM_001001851 ITIH5,ITIH5,ITIH5 EXON Missense_P481L,Missense_P267L,Missense_P481L exm808505 10 7621730 [A/G] NM_030569,NM_032817,NM_001001851 ITIH5,ITIH5,ITIH5 EXON Missense_S469L,Missense_S255L,Missense_S469L exm808510 10 7621755 [T/C] NM_030569,NM_032817,NM_001001851 ITIH5,ITIH5,ITIH5 EXON Missense_V461M,Missense_V247M,Missense_V461M exm808511 10 7621757 [T/C] NM_030569,NM_032817,NM_001001851 ITIH5,ITIH5,ITIH5 EXON Missense_R460H,Missense_R246H,Missense_R460H exm808520 10 7621875 [T/G] NM_030569,NM_032817,NM_001001851 ITIH5,ITIH5,ITIH5 EXON Missense_N421H,Missense_N207H,Missense_N421H exm808521 10 7621892 [T/C] NM_030569,NM_032817,NM_001001851 ITIH5,ITIH5,ITIH5 EXON Missense_H415R,Missense_H201R,Missense_H415R exm808535 10 7622009 [A/G] NM_030569,NM_032817,NM_001001851 ITIH5,ITIH5,ITIH5 EXON Missense_A376V,Missense_A162V,Missense_A376V exm808544 10 7627957 [A/G] NM_030569,NM_032817,NM_001001851 ITIH5,ITIH5,ITIH5 EXON Missense_R339W,Missense_R125W,Missense_R339W exm808575 10 7659233 [A/G] NM_030569,NM_032817,NM_001001851 ITIH5,ITIH5,ITIH5 EXON Missense_P222L,Missense_P8L,Missense_P222L exm808584 10 7679232 [A/G] NM_030569,NM_001001851 ITIH5,ITIH5 EXON Missense_P204L,Missense_P204L exm808596 10 7682770 [G/C] NM_030569,NM_001001851 ITIH5,ITIH5 EXON Missense_K116N,Missense_K116N exm808603 10 7684001 [T/C] NM_030569,NM_001001851 ITIH5,ITIH5 EXON Missense_R63H,Missense_R63H exm2264379 10 7722848 [A/C] exm808621 10 7745411 [T/C] NM_002216 ITIH2 EXON Missense_T5M exm808632 10 7749164 [A/C] NM_002216 ITIH2 EXON Synonymous_R54R exm808633 10 7749183 [T/C] NM_002216 ITIH2 EXON Missense_S60L exm808638 10 7751018 [A/G] NM_002216 ITIH2 EXON Missense_K76E exm808649 10 7751155 [C/G] NM_002216 ITIH2 Silent exm2259636 10 7755623 [T/G] NM_002216 ITIH2 Silent exm808658 10 7759650 [A/G] NM_002216 ITIH2 EXON Missense_V177M exm808675 10 7763661 [A/G] NM_002216 ITIH2 EXON Missense_N263S exm808677 10 7763669 [G/C] NM_002216 ITIH2 EXON Missense_E266Q exm2276974 10 7763676 [A/C] NM_002216 ITIH2 EXON Missense_A268E exm808683 10 7765492 [A/G] NM_002216 ITIH2 EXON Missense_D316N exm808684 10 7765529 [A/G] NM_002216 ITIH2 EXON Missense_Q328R exm808686 10 7768968 [C/G] NM_002216 ITIH2 EXON Missense_S347C exm808690 10 7769043 [A/G] NM_002216 ITIH2 EXON Missense_D372G exm808692 10 7769666 [A/G] NM_002216 ITIH2 EXON Missense_G385D exm808694 10 7769693 [A/G] NM_002216 ITIH2 EXON Missense_R394Q exm808700 10 7769749 [A/G] NM_002216 ITIH2 EXON Missense_V413I exm808708 10 7771947 [A/G] NM_002216 ITIH2 EXON Missense_V438I exm808712 10 7772035 [A/G] NM_002216 ITIH2 EXON Missense_N467S exm808720 10 7773836 [A/G] NM_002216 ITIH2 EXON Synonymous_T508T exm2249373 10 7773836 [A/G] NM_002216 ITIH2 EXON Synonymous_T508T exm808725 10 7773942 [A/G] NM_002216 ITIH2 EXON Missense_V544I exm808729 10 7774317 [T/C] NM_002216 ITIH2 EXON Missense_V555A exm808733 10 7774358 [C/G] NM_002216 ITIH2 EXON Missense_L569V exm808734 10 7774364 [A/G] NM_002216 ITIH2 EXON Missense_K571E exm808738 10 7774397 [A/G] NM_002216 ITIH2 EXON Missense_K582E exm808741 10 7776959 [T/C] NM_002216 ITIH2 EXON Missense_I621T exm808742 10 7776968 [T/C] NM_002216 ITIH2 EXON Missense_P624L exm808750 10 7780585 [C/G] NM_002216 ITIH2 EXON Synonymous_G653G exm808755 10 7780628 [T/C] NM_002216 ITIH2 EXON Missense_S668P exm808756 10 7780646 [C/G] NM_002216 ITIH2 EXON Missense_P674A exm808767 10 7785184 [G/C] NM_002216 ITIH2 EXON Missense_P724R exm1685528 10 7786087 [A/G] NM_002216 ITIH2 EXON Missense_N751S exm808776 10 7786103 [A/C] NM_002216 ITIH2 EXON Missense_S756R exm808780 10 7786234 [T/C] NM_002216 ITIH2 EXON Missense_T800M exm808782 10 7786236 [A/C] NM_002216 ITIH2 EXON Missense_N801H exm808784 10 7786772 [G/C] NM_002216 ITIH2 EXON Missense_K809N exm808788 10 7786861 [T/C] NM_002216 ITIH2 EXON Missense_V839A exm808791 10 7788585 [A/G] NM_002216 ITIH2 EXON Missense_I871V exm808796 10 7791218 [A/G] NM_002216 ITIH2 EXON Missense_N921S exm808801 10 7791290 [A/G] NM_002216 ITIH2 EXON Missense_R945Q exm2273461 10 7798033 [T/A] NM_012311,NR_045609 KIN,KIN EXON Silent,Silent exm2217509 10 7801905 [A/G] NM_012311,NR_045609 KIN,KIN EXON Missense_T356I,Silent exm1685548 10 7808018 [A/G] NM_012311,NR_045609 KIN,KIN EXON Missense_P283S,Silent exm1685555 10 7816851 [A/G] NM_012311,NR_045609 KIN,KIN EXON Missense_T204M,Silent exm808844 10 7822022 [T/C] NM_012311,NR_045609 KIN,KIN EXON Missense_E125K,Silent exm1685558 10 7822263 [A/G] NM_012311,NR_045609 KIN,KIN EXON Nonsense_R73X,Silent exm808875 10 7839111 [T/C] NM_005174,NM_001001973 ATP5C1,ATP5C1 EXON Missense_P65S,Missense_P65S exm808879 10 7840983 [T/C] NM_005174,NM_001001973 ATP5C1,ATP5C1 EXON Missense_P85L,Missense_P85L exm808887 10 7841811 [A/G] NM_005174,NM_001001973 ATP5C1,ATP5C1 EXON Missense_I169V,Missense_I169V exm808920 10 7866419 [A/G] NM_031923 TAF3 EXON Missense_S102N exm808928 10 8005959 [T/G] NM_031923 TAF3 EXON Missense_D162E exm808929 10 8005988 [A/G] NM_031923 TAF3 EXON Missense_D172G exm808937 10 8006266 [A/G] NM_031923 TAF3 EXON Missense_T265A exm808938 10 8006338 [A/G] NM_031923 TAF3 EXON Missense_A289T exm808944 10 8006461 [T/A] NM_031923 TAF3 EXON Missense_I330F exm808950 10 8006519 [G/C] NM_031923 TAF3 EXON Missense_S349T exm2274392 10 8006547 [C/G] NM_031923 TAF3 EXON Missense_Q358H exm2249383 10 8006631 [A/G] NM_031923 TAF3 EXON Synonymous_T386T exm808959 10 8006798 [A/G] NM_031923 TAF3 EXON Missense_N442S exm808965 10 8006953 [T/C] NM_031923 TAF3 EXON Missense_S494P exm809000 10 8019223 [T/C] NM_031923 TAF3 EXON Missense_A751V exm809016 10 8051250 [T/C] NM_031923 TAF3 EXON Missense_A842V exm-rs501764 10 8093034 [T/G] NR_024256,NR_024255 GATA3-AS1,GATA3-AS1 EXON Silent,Silent exm809086 10 8100750 [A/G] NM_002051,NM_001002295 GATA3,GATA3 EXON Missense_G242S,Missense_G242S exm-rs946028 10 8348329 [A/G] exm2266957 10 8392174 [A/G] exm2267077 10 8508228 [A/G] exm2249402 10 8545524 [A/G] exm-rs7101305 10 8611179 [T/C] exm-rs10795668 10 8701219 [A/G] exm2266959 10 9238010 [A/G] exm2271375 10 9399473 [T/C] exm2271251 10 9975098 [T/C] exm2259509 10 10160039 [A/G] exm2249017 10 10570880 [A/G] exm-rs2399553 10 10760902 [T/C] exm2271252 10 10855297 [T/G] exm-rs62209 10 11000339 [T/G] exm2259521 10 11002752 [A/G] exm809130 10 11047400 [T/C] NM_001025077 CELF2 EXON Missense_L17S exm-rs10905900 10 11143281 [A/G] NM_001025077,NM_006561,NR_046108 CELF2,CELF2,CELF2-AS2 Silent,Silent,Silent exm809162 10 11330456 [A/G] NM_001025077,NM_006561,NM_001025076,NM_001083591 CELF2,CELF2,CELF2,CELF2 EXON Missense_S299N,Missense_S306N,Missense_S275N,Missense_S275N exm2271376 10 11464063 [T/C] exm809199 10 11504528 [G/C] NM_001080491,NM_014688 USP6NL,USP6NL EXON Missense_S817C,Missense_S800C exm809208 10 11504687 [A/G] NM_001080491,NM_014688 USP6NL,USP6NL EXON Missense_T764M,Missense_T747M exm809210 10 11504715 [T/C] NM_001080491,NM_014688 USP6NL,USP6NL EXON Missense_E755K,Missense_E738K exm809231 10 11505170 [A/G] NM_001080491,NM_014688 USP6NL,USP6NL EXON Missense_P603L,Missense_P586L exm809234 10 11505177 [A/G] NM_001080491,NM_014688 USP6NL,USP6NL EXON Missense_P601S,Missense_P584S exm809243 10 11505372 [T/C] NM_001080491,NM_014688 USP6NL,USP6NL EXON Missense_V536I,Missense_V519I exm809266 10 11505743 [A/G] NM_001080491,NM_014688 USP6NL,USP6NL EXON Missense_P412L,Missense_P395L exm2274393 10 11527215 [T/C] NM_001080491,NM_014688 USP6NL,USP6NL EXON Missense_T277A,Missense_T260A exm809282 10 11532832 [A/G] NM_001080491,NM_014688 USP6NL,USP6NL EXON Missense_T198M,Missense_T181M exm809283 10 11532842 [T/C] NM_001080491,NM_014688 USP6NL,USP6NL EXON Missense_I195V,Missense_I178V exm809288 10 11535209 [A/G] NM_001080491,NM_014688 USP6NL,USP6NL EXON Missense_R152W,Missense_R135W exm809290 10 11543119 [T/C] NM_001080491,NM_014688 USP6NL,USP6NL EXON Missense_E139G,Missense_E122G exm809299 10 11560554 [A/G] NM_001080491,NM_014688 USP6NL,USP6NL EXON Missense_H76Y,Missense_H59Y exm809316 10 11789355 [A/G] NM_024693 ECHDC3 EXON Missense_V60I exm809317 10 11789365 [A/G] NM_024693 ECHDC3 EXON Missense_N63S exm809318 10 11789382 [A/G] NM_024693 ECHDC3 EXON Missense_A69T exm809331 10 11791591 [A/G] NM_024693 ECHDC3 EXON Synonymous_K130K exm809336 10 11797423 [A/G] NM_024693 ECHDC3 EXON Missense_R136Q exm809340 10 11797451 [T/G] NM_024693 ECHDC3 EXON Missense_M145I exm809341 10 11797467 [A/G] NM_024693 ECHDC3 EXON Missense_A151T exm809345 10 11797500 [A/G] NM_024693 ECHDC3 EXON Missense_D162N exm1671985 10 11797509 [A/G] NM_024693 ECHDC3 EXON Missense_V165M exm809349 10 11797518 [A/G] NM_024693 ECHDC3 EXON Missense_D168N exm809354 10 11797554 [A/G] NM_024693 ECHDC3 EXON Missense_G180R exm809355 10 11797585 [T/G] NM_024693 ECHDC3 EXON Missense_L190W exm809375 10 11805412 [T/C] NM_024693 ECHDC3 EXON Nonsense_Q261X exm2274394 10 11805473 [A/G] NM_024693 ECHDC3 EXON Missense_R281Q exm809384 10 11805487 [A/G] NM_024693 ECHDC3 EXON Missense_G286S exm809385 10 11805494 [T/C] NM_024693 ECHDC3 EXON Missense_T288M exm2249061 10 11885961 [T/C] NM_153256 PROSER2 Silent exm809389 10 11894092 [T/C] NM_153256,NR_038222 PROSER2,PROSER2-AS1 EXON Missense_R6W,Silent exm2276874 10 11894146 [A/C] NM_153256,NR_038222 PROSER2,PROSER2-AS1 EXON Synonymous_R24R,Silent exm809394 10 11894164 [A/G] NM_153256,NR_038222 PROSER2,PROSER2-AS1 EXON Missense_G30S,Silent exm809395 10 11894180 [A/G] NM_153256,NR_038222 PROSER2,PROSER2-AS1 EXON Missense_R35Q,Silent exm809396 10 11894195 [A/G] NM_153256,NR_038222 PROSER2,PROSER2-AS1 EXON Missense_R40H,Silent exm809404 10 11908638 [A/G] NM_153256,NR_038222 PROSER2,PROSER2-AS1 EXON Missense_D83N,Silent exm809407 10 11908666 [T/C] NM_153256,NR_038222 PROSER2,PROSER2-AS1 EXON Missense_P92L,Silent exm809414 10 11908740 [A/G] NM_153256,NR_038222 PROSER2,PROSER2-AS1 EXON Missense_A117T,Silent exm809418 10 11908752 [A/G] NM_153256,NR_038222 PROSER2,PROSER2-AS1 EXON Missense_E121K,Silent exm809426 10 11911537 [G/C] NM_153256,NR_038222 PROSER2,PROSER2-AS1 EXON Missense_P147R,Silent exm809430 10 11911576 [A/C] NM_153256,NR_038222 PROSER2,PROSER2-AS1 EXON Missense_A160E,Silent exm1672331 10 11911696 [A/T] NM_153256,NR_038222 PROSER2,PROSER2-AS1 EXON Missense_K200M,Silent exm809436 10 11911704 [A/G] NM_153256,NR_038222 PROSER2,PROSER2-AS1 EXON Missense_E203K,Silent exm809439 10 11911741 [T/C] NM_153256,NR_038222 PROSER2,PROSER2-AS1 EXON Missense_S215F,Silent exm809441 10 11911744 [A/C] NM_153256,NR_038222 PROSER2,PROSER2-AS1 EXON Missense_P216Q,Silent exm1672332 10 11912181 [A/G] NM_153256,NR_038222 PROSER2,PROSER2-AS1 EXON Missense_A362T,Silent exm809522 10 11998413 [A/G] NM_015542,NM_080599 UPF2,UPF2 EXON Missense_V827A,Missense_V827A exm809533 10 12006124 [T/C] NM_015542,NM_080599 UPF2,UPF2 EXON Missense_M690V,Missense_M690V exm809545 10 12043768 [G/C] NM_015542,NM_080599 UPF2,UPF2 EXON Missense_E521Q,Missense_E521Q exm809549 10 12046546 [T/C] NM_015542,NM_080599 UPF2,UPF2 EXON Missense_N496S,Missense_N496S exm809571 10 12071235 [T/A] NM_015542,NM_080599 UPF2,UPF2 EXON Missense_D218E,Missense_D218E exm809583 10 12077076 [T/G] NM_015542,NM_080599 UPF2,UPF2 EXON Missense_E116A,Missense_E116A exm809588 10 12077155 [T/C] NM_015542,NM_080599 UPF2,UPF2 EXON Missense_E90K,Missense_E90K exm809593 10 12077347 [T/C] NM_015542,NM_080599 UPF2,UPF2 EXON Missense_S26G,Missense_S26G exm809595 10 12077409 [T/C] NM_015542,NM_080599 UPF2,UPF2 EXON Missense_R5H,Missense_R5H exm809607 10 12123525 [G/C] NM_018706 DHTKD1 EXON Missense_A70G exm809619 10 12126671 [A/C] NM_018706 DHTKD1 EXON Missense_K148T exm809621 10 12126716 [A/G] NM_018706 DHTKD1 EXON Missense_R163Q exm809630 10 12129639 [T/G] NM_018706 DHTKD1 EXON Missense_A210S exm809636 10 12130988 [T/A] NM_018706 DHTKD1 EXON Missense_M241L exm809640 10 12131081 [T/G] NM_018706 DHTKD1 EXON Missense_Y272D exm809641 10 12131114 [A/G] NM_018706 DHTKD1 EXON Missense_M283V exm809647 10 12131240 [A/G] NM_018706 DHTKD1 EXON Missense_V325I exm809650 10 12133572 [A/G] NM_018706 DHTKD1 EXON Missense_N350D exm809651 10 12133603 [T/C] NM_018706 DHTKD1 EXON Missense_V360A exm809660 10 12136158 [T/C] NM_018706 DHTKD1 EXON Nonsense_Q416X exm809662 10 12136174 [A/G] NM_018706 DHTKD1 EXON Missense_K421R exm809664 10 12136212 [A/G] NM_018706 DHTKD1 EXON Missense_G434S exm809675 10 12139874 [T/C] NM_018706 DHTKD1 EXON Missense_A517V exm809682 10 12143053 [T/G] NM_018706 DHTKD1 EXON Missense_R590L exm809684 10 12143105 [C/G] NM_018706 DHTKD1 EXON Missense_I607M exm809685 10 12143116 [A/G] NM_018706 DHTKD1 EXON Missense_Q611R exm809694 10 12148308 [A/T] NM_018706 DHTKD1 EXON Missense_S654C exm809705 10 12149981 [A/C] NM_018706 DHTKD1 EXON Missense_D707E exm809712 10 12154929 [A/G] NM_018706 DHTKD1 EXON Missense_G729R exm809719 10 12155062 [T/C] NM_018706 DHTKD1 EXON Missense_P773L exm809720 10 12155063 [A/G] NM_018706 DHTKD1 EXON Synonymous_P773P exm809741 10 12162193 [T/G] NM_018706 DHTKD1 EXON Missense_S862I exm809745 10 12162789 [A/C] NM_018706 DHTKD1 EXON Missense_R888S exm809752 10 12162832 [T/C] NM_018706 DHTKD1 EXON Missense_I902T exm809753 10 12162849 [A/C] NM_018706 DHTKD1 EXON Missense_H908N exm2249072 10 12199039 [T/C] NM_001142628,NM_001142627,NR_024576,NR_024577,NM_018144 SEC61A2,SEC61A2,SEC61A2,SEC61A2,SEC61A2 EXON Synonymous_F228F,Synonymous_F250F,Silent,Silent,Synonymous_F250F exm809834 10 12214844 [A/G] NM_014142 NUDT5 EXON Missense_L136S exm2276792 10 12214864 [A/C] NM_014142 NUDT5 EXON Synonymous_A129A exm2271254 10 12215180 [T/C] NM_014142 NUDT5 Silent exm809838 10 12215734 [A/G] NM_014142 NUDT5 EXON Missense_I123T exm809840 10 12219820 [G/C] NM_014142 NUDT5 EXON Missense_M87I exm809858 10 12238319 [A/G] NM_006023 CDC123 Silent exm-rs7068966 10 12277992 [T/C] NM_006023 CDC123 Silent exm1673061 10 12291584 [T/C] NM_006023 CDC123 EXON Missense_S284F exm-rs10906115 10 12314997 [A/G] exm809923 10 12595329 [A/G] NM_153498,NM_020397 CAMK1D,CAMK1D EXON Missense_I66M,Missense_I66M exm2266962 10 12675061 [A/G] NM_153498,NM_020397 CAMK1D,CAMK1D Silent,Silent exm2271377 10 12689914 [T/C] NM_153498,NM_020397 CAMK1D,CAMK1D Silent,Silent exm809928 10 12802947 [G/C] NM_153498,NM_020397 CAMK1D,CAMK1D EXON Synonymous_L100L,Synonymous_L100L exm809931 10 12803023 [T/C] NM_153498,NM_020397 CAMK1D,CAMK1D EXON Missense_R126C,Missense_R126C exm809946 10 12858263 [C/G] NM_153498,NM_020397 CAMK1D,CAMK1D EXON Missense_R257G,Missense_R257G exm809957 10 12867617 [T/C] NM_153498,NM_020397 CAMK1D,CAMK1D EXON Missense_H323Y,Missense_H323Y exm809963 10 12870771 [A/T] NM_153498 CAMK1D EXON Missense_L348Q exm809964 10 12870807 [T/C] NM_153498 CAMK1D EXON Missense_S360L exm-rs7909670 10 12918764 [T/C] exm809985 10 12940631 [T/C] NM_031455 CCDC3 EXON Missense_V200I exm809990 10 12940666 [T/G] NM_031455 CCDC3 EXON Nonsense_S188X exm809994 10 13040400 [A/G] NM_031455 CCDC3 EXON Missense_C163R exm809999 10 13040481 [T/C] NM_031455 CCDC3 EXON Missense_G136R exm810003 10 13043224 [T/C] NM_031455 CCDC3 EXON Missense_Q116R exm810005 10 13043248 [A/G] NM_031455 CCDC3 EXON Missense_S108L exm-rs525455 10 13103285 [A/G] exm810019 10 13152382 [T/A] NM_001008213,NM_001008212,NM_021980,NM_001008211 OPTN,OPTN,OPTN,OPTN EXON Missense_E92V,Missense_E92V,Missense_E92V,Missense_E92V exm810024 10 13154486 [A/G] NM_001008213,NM_001008212,NM_021980,NM_001008211 OPTN,OPTN,OPTN,OPTN EXON Missense_E135K,Missense_E135K,Missense_E135K,Missense_E135K exm-rs1561570 10 13155726 [T/C] NM_001008213,NM_001008212,NM_021980,NM_001008211 OPTN,OPTN,OPTN,OPTN Silent,Silent,Silent,Silent exm810061 10 13166021 [A/C] NM_001008213,NM_001008212,NM_021980,NM_001008211 OPTN,OPTN,OPTN,OPTN EXON Missense_N303K,Missense_N303K,Missense_N303K,Missense_N303K exm810063 10 13166053 [T/A] NM_001008213,NM_001008212,NM_021980,NM_001008211 OPTN,OPTN,OPTN,OPTN EXON Missense_Q314L,Missense_Q314L,Missense_Q314L,Missense_Q314L exm810065 10 13166076 [A/G] NM_001008213,NM_001008212,NM_021980,NM_001008211 OPTN,OPTN,OPTN,OPTN EXON Missense_K322E,Missense_K322E,Missense_K322E,Missense_K322E exm810076 10 13169898 [T/G] NM_001008213,NM_001008212,NM_021980,NM_001008211 OPTN,OPTN,OPTN,OPTN EXON Missense_A466S,Missense_A466S,Missense_A466S,Missense_A466S exm1674778 10 13175528 [A/G] NM_001008213,NM_001008212,NM_021980,NM_001008211 OPTN,OPTN,OPTN,OPTN EXON Missense_R520H,Missense_R520H,Missense_R520H,Missense_R520H exm810088 10 13178766 [A/G] NM_001008213,NM_001008212,NM_021980,NM_001008211 OPTN,OPTN,OPTN,OPTN EXON Missense_R545Q,Missense_R545Q,Missense_R545Q,Missense_R545Q exm810099 10 13213015 [A/G] NM_018518,NM_182751 MCM10,MCM10 EXON Missense_R34Q,Missense_R34Q exm810105 10 13213119 [A/G] NM_018518,NM_182751 MCM10,MCM10 EXON Missense_D69N,Missense_D69N exm810111 10 13214427 [A/G] NM_018518,NM_182751 MCM10,MCM10 EXON Missense_K134R,Missense_K134R exm810116 10 13214636 [T/C] NM_018518,NM_182751 MCM10,MCM10 EXON Missense_P155S,Missense_P156S exm810123 10 13214753 [C/G] NM_018518,NM_182751 MCM10,MCM10 EXON Missense_A194P,Missense_A195P exm810128 10 13217560 [C/G] NM_018518,NM_182751 MCM10,MCM10 EXON Missense_Q215E,Missense_Q216E exm810129 10 13217572 [T/C] NM_018518,NM_182751 MCM10,MCM10 EXON Missense_R219W,Missense_R220W exm1674826 10 13217606 [T/C] NM_018518,NM_182751 MCM10,MCM10 EXON Missense_I230T,Missense_I231T exm810134 10 13217636 [T/C] NM_018518,NM_182751 MCM10,MCM10 EXON Missense_T240M,Missense_T241M exm810138 10 13222485 [A/G] NM_018518,NM_182751 MCM10,MCM10 EXON Missense_G270S,Missense_G271S exm810147 10 13224970 [A/G] NM_018518,NM_182751 MCM10,MCM10 EXON Missense_R323H,Missense_R324H exm810148 10 13225021 [T/C] NM_018518,NM_182751 MCM10,MCM10 EXON Missense_A340V,Missense_A341V exm810151 10 13225050 [A/G] NM_018518,NM_182751 MCM10,MCM10 EXON Missense_V350I,Missense_V351I exm810157 10 13228184 [A/T] NM_018518,NM_182751 MCM10,MCM10 EXON Missense_H373Q,Missense_H374Q exm810158 10 13228228 [C/G] NM_018518,NM_182751 MCM10,MCM10 EXON Missense_T388S,Missense_T389S exm810163 10 13230882 [A/G] NM_018518,NM_182751 MCM10,MCM10 EXON Missense_R406H,Missense_R407H exm810165 10 13230915 [T/C] NM_018518,NM_182751 MCM10,MCM10 EXON Missense_A417V,Missense_A418V exm810170 10 13230995 [T/C] NM_018518,NM_182751 MCM10,MCM10 EXON Missense_R444C,Missense_R445C exm810187 10 13234356 [T/A] NM_018518,NM_182751 MCM10,MCM10 EXON Missense_T540S,Missense_T541S exm810188 10 13234360 [T/C] NM_018518,NM_182751 MCM10,MCM10 EXON Missense_A541V,Missense_A542V exm810192 10 13234498 [A/G] NM_018518,NM_182751 MCM10,MCM10 EXON Missense_A559T,Missense_A560T exm810203 10 13237181 [A/G] NM_018518,NM_182751 MCM10,MCM10 EXON Missense_R629Q,Missense_R630Q exm810209 10 13239651 [A/G] NM_018518,NM_182751 MCM10,MCM10 EXON Missense_K668R,Missense_K669R exm810214 10 13240791 [A/C] NM_018518,NM_182751 MCM10,MCM10 EXON Missense_T741K,Missense_T742K exm810229 10 13246349 [T/C] NM_018518,NM_182751 MCM10,MCM10 EXON Missense_P828L,Missense_P829L exm1674853 10 13251117 [A/G] NM_018518,NM_182751 MCM10,MCM10 EXON Missense_R842Q,Missense_R843Q exm810240 10 13251237 [A/G] NM_018518,NM_182751 MCM10,MCM10 EXON Missense_G851D,Missense_G852D exm810244 10 13251300 [A/G] NM_018518,NM_182751 MCM10,MCM10 EXON Missense_S872N,Missense_S873N exm810247 10 13264107 [G/C] NM_145314 UCMA EXON Missense_T138S exm810252 10 13264162 [A/G] NM_145314 UCMA EXON Missense_R120C exm810253 10 13264170 [T/C] NM_145314 UCMA EXON Missense_E117G exm810256 10 13271628 [A/G] NM_145314 UCMA EXON Missense_V101A exm810263 10 13275546 [T/A] NM_145314 UCMA EXON Missense_E71V exm810267 10 13275574 [T/C] NM_145314 UCMA EXON Missense_G62S exm810274 10 13275764 [A/G] NM_145314 UCMA EXON Missense_M32T exm810288 10 13320327 [G/C] NM_001037537,NM_006214 PHYH,PHYH EXON Missense_V231L,Missense_V331L exm810289 10 13320332 [T/C] NM_001037537,NM_006214 PHYH,PHYH EXON Missense_R229Q,Missense_R329Q exm810292 10 13322987 [T/C] NM_001037537,NM_006214 PHYH,PHYH EXON Missense_V218M,Missense_V318M exm810303 10 13325758 [T/C] NM_001037537,NM_006214 PHYH,PHYH EXON Missense_D154N,Missense_D254N exm810305 10 13325784 [T/C] NM_001037537,NM_006214 PHYH,PHYH EXON Missense_R145Q,Missense_R245Q exm810309 10 13325839 [A/C] NM_001037537,NM_006214 PHYH,PHYH EXON Missense_G127W,Missense_G227W exm810312 10 13330395 [T/C] NM_001037537,NM_006214 PHYH,PHYH EXON Missense_G115S,Missense_G215S exm810316 10 13330449 [T/C] NM_001037537,NM_006214 PHYH,PHYH EXON Missense_E97K,Missense_E197K exm810317 10 13330457 [A/G] NM_001037537,NM_006214 PHYH,PHYH EXON Missense_T94M,Missense_T194M exm810319 10 13330470 [T/C] NM_001037537,NM_006214 PHYH,PHYH EXON Missense_V90I,Missense_V190I exm810327 10 13330543 [T/C] NM_001037537,NM_006214 PHYH,PHYH Silent,Silent exm810339 10 13336486 [A/G] NM_001037537,NM_006214 PHYH,PHYH EXON Missense_T19M,Missense_T119M exm810347 10 13337608 [T/C] NM_001037537,NM_006214 PHYH,PHYH Silent,Silent exm810351 10 13340236 [A/G] NM_001037537,NM_006214 PHYH,PHYH EXON Silent,Missense_P29S exm810390 10 13375926 [T/C] NM_012247,NM_001195602,NM_001195604 SEPHS1,SEPHS1,SEPHS1 EXON Missense_A151T,Missense_A84T,Missense_A151T exm2216890 10 13375944 [T/C] NM_012247,NM_001195602,NM_001195604 SEPHS1,SEPHS1,SEPHS1 EXON Missense_I145V,Missense_I78V,Missense_I145V exm2216905 10 13481284 [A/C] NM_152751 BEND7 EXON Missense_F432C exm810448 10 13522940 [T/C] NM_152751,NM_001100912 BEND7,BEND7 EXON Missense_N289S,Missense_N302S exm810455 10 13534636 [A/G] NM_152751,NM_001100912 BEND7,BEND7 EXON Missense_I219T,Missense_I232T exm810457 10 13534652 [T/C] NM_152751,NM_001100912 BEND7,BEND7 EXON Missense_V214I,Missense_V227I exm810458 10 13534655 [A/G] NM_152751,NM_001100912 BEND7,BEND7 EXON Missense_R213C,Missense_R226C exm810462 10 13534727 [C/G] NM_152751,NM_001100912 BEND7,BEND7 EXON Missense_E189Q,Missense_E202Q exm810463 10 13534766 [A/G] NM_152751,NM_001100912 BEND7,BEND7 EXON Missense_P176S,Missense_P189S exm810476 10 13541789 [A/G] NM_152751,NM_001100912 BEND7,BEND7 EXON Missense_T94M,Missense_T94M exm810480 10 13541886 [A/G] NM_152751,NM_001100912 BEND7,BEND7 EXON Missense_R62C,Missense_R62C exm810486 10 13541912 [T/G] NM_152751,NM_001100912 BEND7,BEND7 EXON Missense_A53D,Missense_A53D exm1675955 10 13542069 [A/T] NM_152751,NM_001100912 BEND7,BEND7 EXON Missense_M1L,Missense_M1L exm810493 10 13639479 [T/C] NM_003675 PRPF18 EXON Missense_R30C exm810494 10 13639480 [A/G] NM_003675 PRPF18 EXON Missense_R30H exm810502 10 13642257 [A/G] NM_003675 PRPF18 EXON Missense_E53G exm810507 10 13653615 [A/G] NM_003675 PRPF18 EXON Missense_A171T exm810533 10 13693960 [T/A] NM_018027 FRMD4A EXON Missense_N1022I exm810557 10 13699052 [A/G] NM_018027 FRMD4A EXON Missense_T846M exm810570 10 13699338 [T/G] NM_018027 FRMD4A EXON Missense_T751P exm810573 10 13699395 [T/C] NM_018027 FRMD4A EXON Missense_T732A exm810581 10 13701374 [A/G] NM_018027 FRMD4A EXON Missense_P672L exm810583 10 13701402 [G/C] NM_018027 FRMD4A EXON Missense_P663A exm2249129 10 13702525 [A/G] NM_018027 FRMD4A EXON Synonymous_S563S exm810614 10 13708098 [A/G] NM_018027 FRMD4A EXON Synonymous_D534D exm810618 10 13708148 [A/G] NM_018027 FRMD4A EXON Missense_R518C exm810619 10 13708172 [T/C] NM_018027 FRMD4A EXON Missense_I510V exm810624 10 13708259 [A/G] NM_018027 FRMD4A EXON Missense_R481C exm-rs1541010 10 13755544 [T/C] NM_018027 FRMD4A Silent exm810685 10 13838567 [G/C] NM_018027 FRMD4A EXON Missense_Q76H exm810687 10 13852814 [A/G] NM_018027 FRMD4A EXON Missense_T69M exm2249131 10 14391273 [T/C] exm810716 10 14563299 [G/C] NM_031453 FAM107B EXON Missense_L271V exm810721 10 14563960 [T/C] NM_031453 FAM107B EXON Missense_D238N exm-rs7903263 10 14698952 [A/C] NM_031453 FAM107B Silent exm2259559 10 14813860 [A/G] NM_031453 FAM107B Silent exm810737 10 14816259 [A/G] NM_031453 FAM107B EXON Missense_T135M exm810747 10 14816424 [T/C] NM_031453 FAM107B EXON Missense_S80N exm810753 10 14816550 [T/G] NM_031453 FAM107B EXON Missense_A38D exm810762 10 14862082 [G/C] NM_001029954 CDNF EXON Missense_W154S exm810763 10 14862140 [A/C] NM_001029954 CDNF EXON Missense_A135S exm810769 10 14867562 [A/G] NM_001029954 CDNF EXON Missense_R101C exm810770 10 14867578 [G/C] NM_001029954 CDNF EXON Missense_I95M exm810802 10 14890639 [A/G] NM_016299 HSPA14 EXON Missense_A85T exm810805 10 14890829 [A/C] NM_016299 HSPA14 EXON Missense_T104N exm810823 10 14896155 [G/C] NM_016299 HSPA14 EXON Missense_R256G exm2216971 10 14896189 [T/C] NM_016299 HSPA14 EXON Missense_V267A exm810835 10 14897929 [T/A] NM_016299 HSPA14 EXON Missense_D327V exm810844 10 14909738 [A/G] NM_016299 HSPA14 EXON Missense_V404M exm810860 10 14939011 [A/G] NM_001193426,NM_001193424,NR_034181,NM_001193427,NM_001193425,NM_024670 SUV39H2,SUV39H2,SUV39H2,SUV39H2,SUV39H2,SUV39H2 EXON Silent,Missense_N115S,Silent,Silent,Missense_N55S,Missense_N55S exm810866 10 14939212 [C/G] NM_001193426,NM_001193424,NR_034181,NM_001193427,NM_001193425,NM_024670 SUV39H2,SUV39H2,SUV39H2,SUV39H2,SUV39H2,SUV39H2 EXON Silent,Missense_S182T,Silent,Silent,Missense_S122T,Missense_S122T exm810898 10 14950496 [A/G] NM_001033855,NM_001033857,NM_022487,NM_001033858 DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C EXON Nonsense_R664X,Nonsense_R544X,Nonsense_R549X,Nonsense_R544X exm810920 10 14951101 [A/T] NM_001033855,NM_001033857,NM_022487,NM_001033858 DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C EXON Missense_E462V,Missense_E342V,Missense_E347V,Missense_E342V exm810938 10 14965056 [A/T] NM_001033855,NM_001033857,NM_022487,NM_001033858 DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C EXON Missense_L329M,Missense_L209M,Missense_L214M,Missense_L209M exm810939 10 14968855 [G/C] NM_001033855,NM_001033857,NM_022487,NM_001033858 DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C EXON Missense_S320C,Missense_S200C,Missense_S205C,Missense_S200C exm810950 10 14974905 [T/C] NM_001033855,NM_001033857,NM_022487,NM_001033858 DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C EXON Missense_H243R,Missense_H123R,Missense_H128R,Missense_H123R exm810956 10 14976501 [C/G] NM_001033855,NM_001033857,NM_022487,NM_001033858 DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C EXON Missense_V186L,Missense_V66L,Missense_V71L,Missense_V66L exm810957 10 14976703 [T/C] NM_001033855,NM_001033857,NM_022487,NM_001033858 DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C EXON Missense_R179Q,Missense_R59Q,Missense_R64Q,Missense_R59Q exm810958 10 14976727 [C/G] NM_001033855,NM_001033857,NM_022487,NM_001033858 DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C EXON Missense_P171R,Missense_P51R,Missense_P56R,Missense_P51R exm810964 10 14977503 [T/G] NM_001033855,NM_001033857,NM_022487,NM_001033858 DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C EXON Missense_Q141H,Missense_Q21H,Missense_Q26H,Missense_Q21H exm810966 10 14977507 [A/G] NM_001033855,NM_001033857,NM_022487,NM_001033858 DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C EXON Missense_A140V,Missense_A20V,Missense_A25V,Missense_A20V exm810977 10 14987123 [C/G] NM_001033855,NM_001033857,NM_022487,NM_001033858 DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C EXON Missense_R76T,Silent,Silent,Silent exm810980 10 14987138 [A/G] NM_001033855,NM_001033857,NM_022487,NM_001033858 DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C EXON Missense_T71M,Silent,Silent,Silent exm810981 10 14987181 [A/C] NM_001033855,NM_001033857,NM_022487,NM_001033858 DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C EXON Missense_V57F,Silent,Silent,Silent exm2266964 10 15003278 [A/G] NM_001080836 MEIG1 Silent exm810990 10 15008475 [A/G] NM_001080836 MEIG1 EXON Missense_S3N exm810992 10 15008493 [A/C] NM_001080836 MEIG1 EXON Missense_K9T exm810993 10 15008502 [A/G] NM_001080836 MEIG1 EXON Missense_S12N exm810994 10 15008508 [G/C] NM_001080836 MEIG1 EXON Missense_A14G exm811021 10 15091698 [T/C] NM_001039702,NM_018324 OLAH,OLAH EXON Missense_P33S,Missense_P33S exm811022 10 15091707 [A/G] NM_001039702,NM_018324 OLAH,OLAH EXON Missense_G36R,Missense_G36R exm811041 10 15098983 [T/G] NM_001039702,NM_018324 OLAH,OLAH Silent,Silent exm811042 10 15103744 [G/C] NM_001039702,NM_018324 OLAH,OLAH EXON Missense_G62A,Missense_G115A exm811046 10 15103848 [T/C] NM_001039702,NM_018324 OLAH,OLAH EXON Missense_F97L,Missense_F150L exm811063 10 15107599 [A/G] NM_001039702,NM_018324 OLAH,OLAH EXON Missense_R140H,Missense_R193H exm811067 10 15107752 [T/C] NM_001039702,NM_018324 OLAH,OLAH EXON Missense_T191I,Missense_T244I exm811068 10 15107753 [A/G] NM_001039702,NM_018324 OLAH,OLAH Silent,Silent exm811072 10 15113876 [C/G] NM_001039702,NM_018324 OLAH,OLAH EXON Missense_A219P,Missense_A272P exm811082 10 15120538 [A/G] NM_001039844 ACBD7 EXON Synonymous_Y86Y exm811089 10 15120604 [T/C] NM_001039844 ACBD7 Silent exm811093 10 15120725 [T/C] NM_001039844 ACBD7 EXON Missense_G53D exm811102 10 15120942 [A/C] NM_001039844 ACBD7 EXON Missense_I37R exm811114 10 15138387 [T/G] NM_153244 C10orf111 EXON Missense_T146N exm811116 10 15138418 [T/A] NM_153244 C10orf111 EXON Missense_T136S exm811119 10 15138451 [T/C] NM_153244 C10orf111 EXON Missense_G125S exm811121 10 15138570 [G/C] NM_153244 C10orf111 EXON Missense_R85P exm811124 10 15138615 [T/C] NM_153244 C10orf111 EXON Missense_R70K exm811126 10 15138630 [T/A] NM_153244 C10orf111 EXON Missense_K65M exm811131 10 15138676 [T/C] NM_153244 C10orf111 EXON Missense_T50A exm811137 10 15138745 [T/C] NM_153244 C10orf111 EXON Missense_M27V exm811140 10 15138762 [A/C] NM_153244 C10orf111 EXON Missense_G21V exm811146 10 15145336 [T/C] NM_001097590,NM_183005,NM_001265601,NM_006414 RPP38,RPP38,RPP38,RPP38 EXON Missense_P8L,Missense_P8L,Missense_P8L,Missense_P8L exm811156 10 15145428 [A/G] NM_001097590,NM_183005,NM_001265601,NM_006414 RPP38,RPP38,RPP38,RPP38 EXON Missense_E39K,Missense_E39K,Missense_E39K,Missense_E39K exm811157 10 15145453 [T/C] NM_001097590,NM_183005,NM_001265601,NM_006414 RPP38,RPP38,RPP38,RPP38 EXON Missense_T47M,Missense_T47M,Missense_T47M,Missense_T47M exm811163 10 15145569 [A/G] NM_001097590,NM_183005,NM_001265601,NM_006414 RPP38,RPP38,RPP38,RPP38 EXON Missense_I86V,Missense_I86V,Missense_I86V,Missense_I86V exm811165 10 15145597 [T/C] NM_001097590,NM_183005,NM_001265601,NM_006414 RPP38,RPP38,RPP38,RPP38 EXON Missense_T95I,Missense_T95I,Missense_T95I,Missense_T95I exm811174 10 15145824 [A/G] NM_001097590,NM_183005,NM_001265601,NM_006414 RPP38,RPP38,RPP38,RPP38 EXON Missense_V171I,Missense_V171I,Missense_V171I,Missense_V171I exm811176 10 15145855 [G/C] NM_001097590,NM_183005,NM_001265601,NM_006414 RPP38,RPP38,RPP38,RPP38 EXON Missense_A181G,Missense_A181G,Missense_A181G,Missense_A181G exm2216978 10 15145899 [A/G] NM_001097590,NM_183005,NM_001265601,NM_006414 RPP38,RPP38,RPP38,RPP38 EXON Missense_I196V,Missense_I196V,Missense_I196V,Missense_I196V exm811181 10 15145917 [A/C] NM_001097590,NM_183005,NM_001265601,NM_006414 RPP38,RPP38,RPP38,RPP38 EXON Missense_S202R,Missense_S202R,Missense_S202R,Missense_S202R exm811182 10 15145948 [T/C] NM_001097590,NM_183005,NM_001265601,NM_006414 RPP38,RPP38,RPP38,RPP38 EXON Missense_I212T,Missense_I212T,Missense_I212T,Missense_I212T exm811186 10 15146020 [T/C] NM_001097590,NM_183005,NM_001265601,NM_006414 RPP38,RPP38,RPP38,RPP38 EXON Missense_F236S,Missense_F236S,Missense_F236S,Missense_F236S exm811188 10 15146061 [C/G] NM_001097590,NM_183005,NM_001265601,NM_006414 RPP38,RPP38,RPP38,RPP38 EXON Missense_R250G,Missense_R250G,Missense_R250G,Missense_R250G exm811202 10 15154845 [G/C] NM_004808 NMT2 EXON Missense_E430Q exm811205 10 15154953 [T/C] NM_004808 NMT2 EXON Missense_G394S exm811229 10 15174924 [T/C] NM_004808 NMT2 EXON Missense_R204H exm811235 10 15175091 [A/T] NM_004808 NMT2 EXON Missense_N188I exm811242 10 15175315 [T/C] NM_004808 NMT2 EXON Missense_V147I exm811243 10 15175336 [T/C] NM_004808 NMT2 EXON Missense_I140V exm811248 10 15177357 [T/C] NM_004808 NMT2 EXON Missense_A103T exm811275 10 15255056 [A/G] NM_001010924 FAM171A1 EXON Missense_S844L exm811305 10 15255658 [G/C] NM_001010924 FAM171A1 EXON Missense_I643M exm811307 10 15255683 [A/G] NM_001010924 FAM171A1 EXON Missense_P635L exm811310 10 15255720 [A/C] NM_001010924 FAM171A1 EXON Missense_A623S exm1676342 10 15255915 [T/C] NM_001010924 FAM171A1 EXON Missense_G558S exm811317 10 15255920 [T/C] NM_001010924 FAM171A1 EXON Missense_R556Q exm811320 10 15255987 [A/G] NM_001010924 FAM171A1 EXON Missense_R534C exm811325 10 15256073 [T/C] NM_001010924 FAM171A1 EXON Missense_G505D exm811326 10 15256079 [T/C] NM_001010924 FAM171A1 EXON Missense_R503K exm811329 10 15256113 [T/C] NM_001010924 FAM171A1 EXON Missense_V492M exm811332 10 15256169 [T/C] NM_001010924 FAM171A1 EXON Missense_E473G exm811334 10 15256194 [A/G] NM_001010924 FAM171A1 EXON Missense_P465S exm811335 10 15256214 [T/C] NM_001010924 FAM171A1 EXON Missense_H458R exm811340 10 15256368 [T/C] NM_001010924 FAM171A1 EXON Missense_E407K exm811349 10 15256440 [T/C] NM_001010924 FAM171A1 EXON Missense_G383S exm811365 10 15262988 [A/G] NM_001010924 FAM171A1 EXON Missense_P276S exm811367 10 15263030 [A/C] NM_001010924 FAM171A1 EXON Missense_V262L exm811390 10 15296800 [T/G] NM_001010924 FAM171A1 EXON Missense_T166N exm811397 10 15317899 [A/G] NM_001010924 FAM171A1 EXON Synonymous_L125L exm2249134 10 15317899 [A/G] NM_001010924 FAM171A1 EXON Synonymous_L125L exm2249135 10 15326058 [A/G] NM_001010924 FAM171A1 EXON Synonymous_P48P exm811417 10 15326090 [T/C] NM_001010924 FAM171A1 EXON Missense_V38M exm811430 10 15561315 [T/C] NM_003638 ITGA8 EXON Missense_A1027T exm-rs7077361 10 15561543 [T/C] NM_003638 ITGA8 Silent exm811440 10 15573054 [T/C] NM_003638 ITGA8 EXON Missense_I993V exm811443 10 15573110 [A/G] NM_003638 ITGA8 EXON Missense_F974S exm2266965 10 15613080 [A/G] NM_003638 ITGA8 Silent exm811456 10 15614305 [A/C] NM_003638 ITGA8 EXON Missense_A848S exm811462 10 15617521 [A/C] NM_003638 ITGA8 EXON Missense_E815D exm811465 10 15617553 [A/G] NM_003638 ITGA8 EXON Missense_W805R exm811466 10 15617571 [A/C] NM_003638 ITGA8 EXON Missense_V799F exm811470 10 15628614 [T/C] NM_003638 ITGA8 EXON Missense_I781V exm811471 10 15628634 [T/A] NM_003638 ITGA8 EXON Missense_F774Y exm811472 10 15628638 [T/G] NM_003638 ITGA8 EXON Missense_N773H exm811477 10 15634272 [T/C] NM_003638 ITGA8 EXON Missense_R748H exm1676405 10 15648315 [T/G] NM_003638 ITGA8 EXON Missense_N624T exm811498 10 15648358 [T/C] NM_003638 ITGA8 EXON Missense_E610K exm811501 10 15648405 [T/C] NM_003638 ITGA8 EXON Missense_R594Q exm811504 10 15649698 [T/G] NM_003638 ITGA8 EXON Missense_Q581P exm811505 10 15649710 [A/G] NM_003638 ITGA8 EXON Missense_S577F exm811522 10 15655659 [T/C] NM_003638 ITGA8 EXON Missense_C518Y exm811523 10 15655678 [A/G] NM_003638 ITGA8 EXON Missense_S512P exm811526 10 15655710 [T/C] NM_003638 ITGA8 EXON Missense_N501S exm811529 10 15655720 [T/C] NM_003638 ITGA8 EXON Missense_M498V exm811542 10 15686083 [T/C] NM_003638 ITGA8 EXON Missense_G449R exm811544 10 15686092 [T/C] NM_003638 ITGA8 EXON Missense_V446I exm811546 10 15686109 [A/G] NM_003638 ITGA8 EXON Missense_V440A exm811556 10 15688877 [T/C] NM_003638 ITGA8 EXON Missense_H392R exm811558 10 15688896 [A/G] NM_003638 ITGA8 EXON Missense_F386L exm811573 10 15701035 [A/G] NM_003638 ITGA8 EXON Missense_T304M exm811578 10 15702918 [A/G] NM_003638 ITGA8 EXON Missense_L284S exm811595 10 15719621 [G/C] NM_003638 ITGA8 EXON Missense_V216L exm811596 10 15720770 [A/G] NM_003638 ITGA8 EXON Missense_P194L exm811599 10 15726041 [T/G] NM_003638 ITGA8 EXON Missense_N177T exm811622 10 15821010 [T/C] NM_024948 FAM188A EXON Missense_R440H exm811626 10 15821116 [C/G] NM_024948 FAM188A EXON Missense_V405L exm2216988 10 15821131 [T/C] NM_024948 FAM188A EXON Missense_V400I exm811635 10 15828645 [A/G] NM_024948 FAM188A EXON Missense_I344T exm811641 10 15858848 [T/C] NM_024948 FAM188A EXON Missense_V290I exm811642 10 15858886 [T/A] NM_024948 FAM188A EXON Missense_F277Y exm2249137 10 15875660 [T/C] NM_024948 FAM188A EXON Synonymous_V233V exm811646 10 15875660 [T/C] NM_024948 FAM188A EXON Synonymous_V233V exm811648 10 15876603 [T/C] NM_024948 FAM188A EXON Missense_I197V exm811649 10 15876612 [T/C] NM_024948 FAM188A EXON Missense_I194V exm811653 10 15879295 [A/G] NM_024948 FAM188A EXON Missense_P162S exm1676491 10 15883429 [A/T] NM_024948 FAM188A EXON Missense_H135Q exm811662 10 15883497 [T/C] NM_024948 FAM188A EXON Missense_G113R exm811675 10 15889931 [T/C] NM_024948 FAM188A EXON Missense_S36G exm811678 10 15902283 [T/C] NM_024948 FAM188A EXON Missense_K6E exm2267082 10 15943346 [A/G] exm-rs10508503 10 16299951 [T/C] exm811684 10 16526448 [A/G] NM_001261838,NM_001001484,NM_001261836,NM_001261837,NM_030664 PTER,PTER,PTER,PTER,PTER EXON Silent,Missense_R22H,Missense_R22H,Missense_R22H,Missense_R22H exm2249139 10 16526554 [A/G] NM_001261838,NM_001001484,NM_001261836,NM_001261837,NM_030664 PTER,PTER,PTER,PTER,PTER EXON Silent,Synonymous_L57L,Synonymous_L57L,Synonymous_L57L,Synonymous_L57L exm811699 10 16526678 [A/G] NM_001261838,NM_001001484,NM_001261836,NM_001261837,NM_030664 PTER,PTER,PTER,PTER,PTER EXON Silent,Missense_T99A,Missense_T99A,Missense_T99A,Missense_T99A exm811704 10 16526759 [A/G] NM_001261838,NM_001001484,NM_001261836,NM_001261837,NM_030664 PTER,PTER,PTER,PTER,PTER EXON Silent,Missense_G126R,Missense_G126R,Missense_G126R,Missense_G126R exm1676502 10 16526795 [A/G] NM_001261838,NM_001001484,NM_001261836,NM_001261837,NM_030664 PTER,PTER,PTER,PTER,PTER EXON Silent,Missense_R138G,Missense_R138G,Missense_R138G,Missense_R138G exm811705 10 16526798 [A/G] NM_001261838,NM_001001484,NM_001261836,NM_001261837,NM_030664 PTER,PTER,PTER,PTER,PTER EXON Silent,Missense_A139T,Missense_A139T,Missense_A139T,Missense_A139T exm811708 10 16528354 [A/G] NM_001261838,NM_001001484,NM_001261836,NM_001261837,NM_030664 PTER,PTER,PTER,PTER,PTER EXON Silent,Missense_T146A,Missense_T146A,Missense_T146A,Missense_T146A exm811709 10 16528357 [A/G] NM_001261838,NM_001001484,NM_001261836,NM_001261837,NM_030664 PTER,PTER,PTER,PTER,PTER EXON Silent,Missense_D147N,Missense_D147N,Missense_D147N,Missense_D147N exm811710 10 16528366 [A/T] NM_001261838,NM_001001484,NM_001261836,NM_001261837,NM_030664 PTER,PTER,PTER,PTER,PTER EXON Missense_M1L,Missense_M150L,Missense_M150L,Missense_M150L,Missense_M150L exm811715 10 16528477 [A/G] NM_001261838,NM_001001484,NM_001261836,NM_001261837,NM_030664 PTER,PTER,PTER,PTER,PTER EXON Missense_T38A,Missense_T187A,Missense_T187A,Missense_T187A,Missense_T187A exm811716 10 16528528 [T/C] NM_001261838,NM_001001484,NM_001261836,NM_001261837,NM_030664 PTER,PTER,PTER,PTER,PTER EXON Missense_R55W,Missense_R204W,Missense_R204W,Missense_R204W,Missense_R204W exm811718 10 16528559 [A/G] NM_001261838,NM_001001484,NM_001261836,NM_001261837,NM_030664 PTER,PTER,PTER,PTER,PTER EXON Missense_R65Q,Missense_R214Q,Missense_R214Q,Missense_R214Q,Missense_R214Q exm811722 10 16547023 [A/C] NM_001261838,NM_001001484,NM_001261836,NM_001261837,NM_030664 PTER,PTER,PTER,PTER,PTER EXON Missense_I86L,Missense_I235L,Missense_I235L,Silent,Missense_I235L exm811729 10 16553050 [A/G] NM_001261838,NM_001001484,NM_001261836,NM_001261837,NM_030664 PTER,PTER,PTER,PTER,PTER EXON Missense_R133H,Missense_R282H,Missense_R282H,Missense_R235H,Missense_R282H exm811731 10 16553079 [T/C] NM_001261838,NM_001001484,NM_001261836,NM_001261837,NM_030664 PTER,PTER,PTER,PTER,PTER EXON Nonsense_R143X,Nonsense_R292X,Nonsense_R292X,Nonsense_R245X,Nonsense_R292X exm811766 10 16635421 [T/C] NM_152724,NM_012425 RSU1,RSU1 EXON Missense_G233R,Missense_R269Q exm2249141 10 16718607 [T/C] NM_152724,NM_012425 RSU1,RSU1 Silent,Silent exm2216993 10 16794565 [A/G] NM_152724,NM_012425 RSU1,RSU1 EXON Synonymous_T154T,Missense_R191C exm811797 10 16796900 [T/C] NM_152724,NM_012425 RSU1,RSU1 EXON Synonymous_K87K,Missense_N124D exm811805 10 16806492 [T/C] NM_152724,NM_012425 RSU1,RSU1 EXON Synonymous_S23S,Missense_A60T exm811814 10 16858993 [T/C] NM_152724,NM_012425 RSU1,RSU1 EXON Silent,Missense_M30V exm811826 10 16867012 [A/G] NM_001081 CUBN EXON Missense_R3612W exm811831 10 16870912 [T/G] NM_001081 CUBN EXON Missense_N3552K exm811835 10 16870992 [T/C] NM_001081 CUBN EXON Missense_G3526S exm811848 10 16877080 [G/C] NM_001081 CUBN EXON Missense_T3432S exm811850 10 16877093 [A/G] NM_001081 CUBN EXON Missense_P3428S exm811853 10 16877108 [T/C] NM_001081 CUBN EXON Missense_V3423I exm811855 10 16877110 [A/G] NM_001081 CUBN EXON Missense_T3422I exm811868 10 16878338 [A/G] NM_001081 CUBN EXON Missense_S3359L exm811872 10 16878375 [T/C] NM_001081 CUBN EXON Missense_G3347R exm811874 10 16882333 [A/G] NM_001081 CUBN EXON Missense_P3343L exm811875 10 16882359 [C/G] NM_001081 CUBN EXON Missense_Q3334H exm811879 10 16882375 [A/G] NM_001081 CUBN EXON Missense_S3329L exm811902 10 16893332 [T/C] NM_001081 CUBN EXON Missense_I3189V exm811904 10 16893406 [G/C] NM_001081 CUBN EXON Missense_S3164W exm2259561 10 16903080 [T/C] NM_001081 CUBN Silent exm811911 10 16911749 [T/C] NM_001081 CUBN EXON Missense_G3114S exm811913 10 16911754 [A/G] NM_001081 CUBN EXON Missense_F3112S exm811915 10 16911791 [T/C] NM_001081 CUBN EXON Missense_D3100N exm811921 10 16916403 [A/G] NM_001081 CUBN EXON Missense_T3069I exm811924 10 16916484 [T/C] NM_001081 CUBN EXON Missense_N3042S exm811927 10 16918923 [T/C] NM_001081 CUBN EXON Missense_G3027R exm811929 10 16918941 [T/C] NM_001081 CUBN EXON Missense_E3021K exm811933 10 16918997 [T/C] NM_001081 CUBN EXON Missense_E3002G exm811937 10 16919034 [T/C] NM_001081 CUBN EXON Missense_V2990I exm811939 10 16919052 [T/C] NM_001081 CUBN EXON Missense_I2984V exm811943 10 16930419 [G/C] NM_001081 CUBN EXON Missense_E2968Q exm811944 10 16930427 [A/G] NM_001081 CUBN EXON Missense_F2965S exm811945 10 16930430 [G/C] NM_001081 CUBN EXON Missense_S2964C exm811953 10 16932384 [A/G] NM_001081 CUBN EXON Missense_A2914V exm811956 10 16932424 [T/C] NM_001081 CUBN EXON Missense_V2901I exm811957 10 16932454 [T/C] NM_001081 CUBN EXON Missense_V2891I exm811960 10 16932490 [T/G] NM_001081 CUBN EXON Missense_L2879I exm811963 10 16941000 [T/C] NM_001081 CUBN EXON Missense_V2865M exm811974 10 16941181 [A/G] NM_001081 CUBN EXON Synonymous_G2804G exm811975 10 16942635 [A/G] NM_001081 CUBN EXON Missense_T2800I exm811984 10 16942831 [A/C] NM_001081 CUBN EXON Missense_D2735Y exm811989 10 16943360 [A/C] NM_001081 CUBN EXON Missense_A2721S exm811990 10 16943371 [G/C] NM_001081 CUBN EXON Missense_S2717W exm811993 10 16943437 [T/C] NM_001081 CUBN EXON Missense_G2695D exm811994 10 16943450 [T/C] NM_001081 CUBN EXON Missense_G2691R exm812005 10 16948246 [T/G] NM_001081 CUBN EXON Missense_E2623A exm812006 10 16948277 [T/G] NM_001081 CUBN EXON Missense_I2613L exm812011 10 16948390 [C/G] NM_001081 CUBN EXON Missense_P2575R exm812023 10 16955835 [A/G] NM_001081 CUBN EXON Missense_P2503L exm812029 10 16955916 [T/C] NM_001081 CUBN EXON Missense_R2476Q exm812036 10 16955978 [T/A] NM_001081 CUBN EXON Missense_D2455E exm1676603 10 16957036 [A/C] NM_001081 CUBN EXON Missense_M2449R exm812044 10 16957918 [A/G] NM_001081 CUBN EXON Missense_S2371F exm812067 10 16962110 [G/C] NM_001081 CUBN EXON Missense_D2225H exm1676616 10 16967396 [A/G] NM_001081 CUBN EXON Missense_P2164S exm812081 10 16967401 [T/C] NM_001081 CUBN EXON Missense_C2162Y exm812082 10 16967407 [T/C] NM_001081 CUBN EXON Missense_D2160G exm812083 10 16967417 [T/C] NM_001081 CUBN EXON Missense_N2157D exm812087 10 16967586 [G/C] NM_001081 CUBN EXON Missense_L2153F exm812091 10 16967701 [T/C] NM_001081 CUBN EXON Missense_N2115S exm812099 10 16970164 [A/G] NM_001081 CUBN EXON Missense_F2088S exm1676622 10 16970282 [C/G] NM_001081 CUBN EXON Missense_Q2049E exm812107 10 16970285 [C/G] NM_001081 CUBN EXON Missense_Q2048E exm812109 10 16970304 [T/C] NM_001081 CUBN Silent exm812119 10 16975190 [A/G] NM_001081 CUBN EXON Missense_T2007M exm812134 10 16979593 [A/G] NM_001081 CUBN EXON Missense_P1975L exm812137 10 16979657 [T/C] NM_001081 CUBN EXON Missense_K1954E exm812141 10 16979677 [T/G] NM_001081 CUBN EXON Missense_S1947Y exm812145 10 16979714 [T/C] NM_001081 CUBN EXON Missense_S1935G exm812151 10 16979755 [T/C] NM_001081 CUBN EXON Missense_R1921H exm812154 10 16981015 [T/C] NM_001081 CUBN EXON Missense_I1894V exm812157 10 16981069 [A/C] NM_001081 CUBN EXON Missense_S1876A exm812158 10 16982031 [A/T] NM_001081 CUBN EXON Missense_I1850L exm812159 10 16982057 [A/G] NM_001081 CUBN EXON Missense_T1841M exm812161 10 16982061 [T/C] NM_001081 CUBN EXON Missense_G1840S exm812163 10 16982120 [T/C] NM_001081 CUBN EXON Missense_Y1820C exm812164 10 16982150 [T/C] NM_001081 CUBN EXON Missense_R1810Q exm812167 10 16982168 [A/G] NM_001081 CUBN EXON Missense_T1804M exm812180 10 16989291 [A/C] NM_001081 CUBN EXON Missense_V1762G exm1676651 10 16990479 [A/G] NM_001081 CUBN EXON Missense_S1736L exm812190 10 16990588 [T/C] NM_001081 CUBN EXON Missense_D1700N exm812196 10 16992011 [A/G] NM_001081 CUBN EXON Missense_A1690V exm812205 10 16994371 [A/G] NM_001081 CUBN EXON Missense_L1625F exm812211 10 16996446 [A/C] NM_001081 CUBN EXON Missense_L1599F exm812215 10 16996516 [T/C] NM_001081 CUBN EXON Missense_R1576H exm-rs10508517 10 16997891 [A/G] NM_001081 CUBN Silent exm2249142 10 16999286 [A/G] NM_001081 CUBN Silent exm812223 10 17024503 [A/G] NM_001081 CUBN EXON Missense_P1559S exm812225 10 17024509 [A/G] NM_001081 CUBN EXON Missense_L1557F exm812229 10 17024557 [A/G] NM_001081 CUBN EXON Missense_R1541W exm812247 10 17032460 [C/G] NM_001081 CUBN EXON Missense_P1408R exm812253 10 17061833 [A/G] NM_001081 CUBN EXON Synonymous_Y1389Y exm812254 10 17061870 [T/C] NM_001081 CUBN EXON Missense_R1377H exm812259 10 17083061 [A/G] NM_001081 CUBN EXON Missense_H1330Y exm812264 10 17083159 [A/G] NM_001081 CUBN EXON Missense_P1297L exm812268 10 17085903 [G/C] NM_001081 CUBN EXON Missense_S1251T exm812269 10 17085909 [T/C] NM_001081 CUBN EXON Missense_R1249H exm812275 10 17087074 [T/C] NM_001081 CUBN EXON Missense_A1202T exm812279 10 17087182 [T/C] NM_001081 CUBN EXON Missense_G1166R exm812286 10 17088067 [A/G] NM_001081 CUBN EXON Missense_L1119S exm812289 10 17089450 [A/C] NM_001081 CUBN EXON Missense_A1098S exm812294 10 17089512 [T/C] NM_001081 CUBN EXON Missense_R1077Q exm812298 10 17089602 [T/G] NM_001081 CUBN EXON Missense_A1047E exm812300 10 17107530 [T/C] NM_001081 CUBN EXON Missense_Y1039C exm812305 10 17110142 [A/G] NM_001081 CUBN EXON Missense_F977L exm812306 10 17110148 [T/C] NM_001081 CUBN EXON Missense_E975K exm812310 10 17110185 [T/C] NM_001081 CUBN EXON Missense_I962M exm812319 10 17110639 [T/C] NM_001081 CUBN EXON Missense_H919R exm812324 10 17110718 [T/C] NM_001081 CUBN EXON Missense_T893A exm812325 10 17110721 [T/C] NM_001081 CUBN EXON Missense_G892S exm812326 10 17110739 [T/C] NM_001081 CUBN EXON Missense_E886K exm812329 10 17113456 [T/C] NM_001081 CUBN EXON Missense_S865N exm812335 10 17113827 [A/G] NM_001081 CUBN EXON Synonymous_V815V exm1676706 10 17126314 [T/C] NM_001081 CUBN EXON Missense_V753M exm812346 10 17126383 [A/G] NM_001081 CUBN EXON Missense_H730Y exm812347 10 17126389 [A/G] NM_001081 CUBN EXON Missense_F728L exm1676713 10 17127755 [G/C] NM_001081 CUBN EXON Missense_R651G exm-rs11254363 10 17130693 [A/G] NM_001081 CUBN Silent exm812376 10 17142050 [T/A] NM_001081 CUBN EXON Missense_L573F exm812379 10 17142088 [T/C] NM_001081 CUBN EXON Missense_D561N exm812382 10 17142165 [T/C] NM_001081 CUBN EXON Missense_Y535C exm-rs6602175 10 17142526 [T/G] NM_001081 CUBN Silent exm2249143 10 17145184 [T/C] NM_001081 CUBN EXON Synonymous_P490P exm812395 10 17146486 [T/C] NM_001081 CUBN EXON Missense_G450D exm812409 10 17147521 [T/G] NM_001081 CUBN EXON Missense_P389T exm812412 10 17151662 [T/C] NM_001081 CUBN EXON Missense_D363G exm812416 10 17152923 [A/G] NM_001081 CUBN EXON Missense_P337L exm812417 10 17152930 [T/C] NM_001081 CUBN EXON Missense_A335T exm812419 10 17152972 [A/G] NM_001081 CUBN EXON Missense_P321S exm812423 10 17153023 [T/C] NM_001081 CUBN EXON Missense_E304K exm812428 10 17156095 [T/C] NM_001081 CUBN EXON Missense_G272R exm812430 10 17156118 [C/G] NM_001081 CUBN EXON Missense_R264T exm812431 10 17156151 [A/G] NM_001081 CUBN EXON Missense_F253S exm812434 10 17157519 [T/C] NM_001081 CUBN EXON Missense_R224H exm812445 10 17165601 [A/G] NM_001081 CUBN EXON Missense_P159S exm812454 10 17169826 [A/G] NM_001081 CUBN Silent exm812460 10 17171176 [T/C] NM_001081 CUBN EXON Missense_G66R exm812463 10 17171244 [T/C] NM_001081 CUBN EXON Missense_R43Q exm812467 10 17171656 [T/G] NM_001081 CUBN EXON Missense_I37L exm812472 10 17171762 [A/C] NM_001081 CUBN EXON Missense_M1I exm1676763 10 17191129 [C/G] NM_004412 TRDMT1 EXON Missense_E362D exm812496 10 17199649 [A/C] NM_004412 TRDMT1 EXON Missense_D226E exm812499 10 17199734 [T/G] NM_004412 TRDMT1 EXON Missense_A198E exm812519 10 17204187 [A/G] NM_004412 TRDMT1 EXON Missense_H101Y exm812521 10 17204201 [A/G] NM_004412 TRDMT1 EXON Missense_T96M exm812524 10 17204222 [T/C] NM_004412 TRDMT1 EXON Missense_G89D exm812537 10 17210913 [T/C] NM_004412 TRDMT1 EXON Missense_I60V exm812538 10 17216554 [A/G] NM_004412 TRDMT1 EXON Missense_I57T exm-rs10904908 10 17260290 [A/G] exm812572 10 17271875 [A/G] NM_003380 VIM EXON Missense_E152K exm812579 10 17271974 [G/C] NM_003380 VIM EXON Missense_L185V exm812599 10 17275797 [A/G] NM_003380 VIM EXON Missense_Q250R exm812625 10 17277210 [T/G] NM_003380 VIM EXON Missense_F351V exm812628 10 17277244 [T/C] NM_003380 VIM EXON Missense_I362T exm2259562 10 17342489 [T/C] exm2249144 10 17362991 [A/G] NM_001004470 ST8SIA6 EXON Synonymous_D361D exm812662 10 17363029 [T/G] NM_001004470 ST8SIA6 EXON Missense_T349P exm812668 10 17363131 [T/C] NM_001004470 ST8SIA6 EXON Missense_G315S exm812672 10 17363189 [G/C] NM_001004470 ST8SIA6 EXON Missense_K295N exm812673 10 17363193 [T/C] NM_001004470 ST8SIA6 EXON Missense_Q294R exm812674 10 17363201 [T/G] NM_001004470 ST8SIA6 EXON Missense_K291N exm812676 10 17363217 [A/G] NM_001004470 ST8SIA6 EXON Missense_T286M exm812685 10 17365146 [A/G] NM_001004470 ST8SIA6 EXON Missense_P216S exm812693 10 17373457 [T/A] NM_001004470 ST8SIA6 EXON Missense_S158C exm-rs359312 10 17388143 [T/C] NM_001004470 ST8SIA6 Silent exm812714 10 17495619 [T/A] NM_001004470 ST8SIA6 EXON Missense_T47S exm2266967 10 17615647 [A/G] exm812726 10 17636242 [T/C] NM_014241 PTPLA EXON Missense_Y249C exm812728 10 17636282 [T/C] NM_014241 PTPLA EXON Missense_I236V exm812729 10 17636309 [A/G] NM_014241 PTPLA EXON Missense_H227Y exm2217002 10 17641373 [A/G] NM_014241 PTPLA EXON Missense_A174V exm812743 10 17641374 [T/C] NM_014241 PTPLA EXON Missense_A174T exm812747 10 17645630 [T/C] NM_014241 PTPLA EXON Missense_V138M exm812756 10 17646017 [T/C] NM_014241 PTPLA EXON Missense_R96H exm812793 10 17726729 [A/G] NM_003473,NR_037774 STAM,STAM EXON Missense_V61I,Silent exm812815 10 17746464 [A/G] NM_003473,NR_037774 STAM,STAM EXON Missense_S316N,Silent exm812821 10 17747597 [G/C] NM_003473,NR_037774 STAM,STAM EXON Missense_E356Q,Silent exm812825 10 17747669 [T/A] NM_003473,NR_037774 STAM,STAM EXON Missense_M380L,Silent exm812831 10 17750857 [T/C] NM_003473,NR_037774 STAM,STAM EXON Missense_P431L,Silent exm812835 10 17750899 [T/C] NM_003473,NR_037774 STAM,STAM EXON Missense_P445L,Silent exm812855 10 17756678 [A/G] NM_003473,NR_037774 STAM,STAM EXON Missense_V508M,Silent exm812857 10 17756708 [C/G] NM_003473,NR_037774 STAM,STAM EXON Missense_L518V,Silent exm812865 10 17813334 [T/G] NM_001098844 TMEM236 EXON Missense_V95G exm812873 10 17865421 [A/G] NM_002438 MRC1 EXON Missense_S137N exm812875 10 17869577 [T/C] NM_002438 MRC1 EXON Missense_T167I exm812890 10 17891594 [G/C] NM_002438 MRC1 EXON Missense_P359A exm812891 10 17891606 [C/G] NM_002438 MRC1 EXON Missense_P363A exm812895 10 17891705 [A/G] NM_002438 MRC1 EXON Missense_S396G exm812897 10 17891714 [A/G] NM_002438 MRC1 EXON Missense_A399T exm812929 10 18116531 [T/C] NM_002438 MRC1 EXON Missense_T167I exm812942 10 18138514 [T/A] NM_002438 MRC1 EXON Missense_D357V exm812945 10 18138576 [A/G] NM_002438 MRC1 EXON Missense_R378G exm812970 10 18242311 [A/G] NM_001145195,NM_152725 SLC39A12,SLC39A12 EXON Missense_S36G,Missense_S36G exm812977 10 18242419 [A/C] NM_001145195,NM_152725 SLC39A12,SLC39A12 EXON Missense_T72P,Missense_T72P exm812979 10 18242432 [A/G] NM_001145195,NM_152725 SLC39A12,SLC39A12 EXON Missense_R76Q,Missense_R76Q exm812992 10 18254428 [T/C] NM_001145195,NM_152725 SLC39A12,SLC39A12 EXON Missense_T187M,Missense_T187M exm813000 10 18254595 [T/C] NM_001145195,NM_152725 SLC39A12,SLC39A12 EXON Missense_R243C,Missense_R243C exm813001 10 18254599 [T/C] NM_001145195,NM_152725 SLC39A12,SLC39A12 EXON Missense_T244M,Missense_T244M exm2264380 10 18266053 [A/C] NM_001145195,NM_152725 SLC39A12,SLC39A12 Silent,Silent exm813006 10 18266845 [A/C] NM_001145195,NM_152725 SLC39A12,SLC39A12 EXON Missense_L256I,Missense_L256I exm813008 10 18266882 [A/C] NM_001145195,NM_152725 SLC39A12,SLC39A12 EXON Missense_N268T,Missense_N268T exm813010 10 18266936 [A/T] NM_001145195,NM_152725 SLC39A12,SLC39A12 EXON Missense_Q286L,Missense_Q286L exm813012 10 18266967 [T/A] NM_001145195,NM_152725 SLC39A12,SLC39A12 EXON Missense_E296D,Missense_E296D exm813014 10 18266989 [A/G] NM_001145195,NM_152725 SLC39A12,SLC39A12 EXON Missense_V304I,Missense_V304I exm813019 10 18270310 [A/G] NM_001145195,NM_152725 SLC39A12,SLC39A12 EXON Missense_D332N,Missense_D332N exm813021 10 18270341 [A/G] NM_001145195,NM_152725 SLC39A12,SLC39A12 EXON Missense_Q342R,Missense_Q342R exm813022 10 18270358 [T/C] NM_001145195,NM_152725 SLC39A12,SLC39A12 EXON Missense_S348P,Missense_S348P exm813028 10 18276419 [A/G] NM_001145195,NM_152725 SLC39A12,SLC39A12 EXON Missense_S370G,Missense_S370G exm813032 10 18276473 [G/C] NM_001145195,NM_152725 SLC39A12,SLC39A12 EXON Missense_V388L,Missense_V388L exm813036 10 18276536 [A/G] NM_001145195,NM_152725 SLC39A12,SLC39A12 EXON Missense_V409I,Missense_V409I exm813042 10 18280113 [T/C] NM_001145195,NM_152725 SLC39A12,SLC39A12 EXON Missense_F435L,Missense_F435L exm813044 10 18280190 [G/C] NM_001145195,NM_152725 SLC39A12,SLC39A12 EXON Missense_L460F,Missense_L460F exm-IND10-18329639 10 18289634 [D/I] NM_001145195,NM_152725 SLC39A12,SLC39A12 EXON exm813057 10 18292111 [A/G] NM_001145195,NM_152725,NR_038419 SLC39A12,SLC39A12,LOC100129213 EXON Missense_V591M,Missense_V554M,Silent exm813062 10 18292207 [A/G] NM_001145195,NM_152725,NR_038419 SLC39A12,SLC39A12,LOC100129213 EXON Missense_V623M,Missense_V586M,Silent exm-rs17661538 10 18397247 [G/C] exm813093 10 18439900 [A/G] NM_201593,NM_201596,NM_201597,NM_001167945,NM_201571,NM_201572 CACNB2,CACNB2,CACNB2,CACNB2,CACNB2,CACNB2 EXON Missense_R70H,Missense_R70H,Missense_R70H,Missense_R42H,Missense_R42H,Missense_R42H exm2271259 10 18511082 [T/C] NM_201593,NM_201596,NM_201597,NM_001167945,NM_201571,NM_201572 CACNB2,CACNB2,CACNB2,CACNB2,CACNB2,CACNB2 Silent,Silent,Silent,Silent,Silent,Silent exm2259563 10 18518934 [T/C] NM_201593,NM_201596,NM_201597,NM_001167945,NM_201571,NM_201572 CACNB2,CACNB2,CACNB2,CACNB2,CACNB2,CACNB2 Silent,Silent,Silent,Silent,Silent,Silent exm-rs2799573 10 18601928 [T/C] NM_201593,NM_201596,NM_201597,NM_001167945,NM_201571,NM_201572,NM_000724 CACNB2,CACNB2,CACNB2,CACNB2,CACNB2,CACNB2,CACNB2 Silent,Silent,Silent,Silent,Silent,Silent,Silent exm-rs11014166 10 18708798 [T/A] NM_201593,NM_201596,NM_201597,NM_001167945,NM_201571,NM_201572,NM_000724,NM_201590,NM_201570 CACNB2,CACNB2,CACNB2,CACNB2,CACNB2,CACNB2,CACNB2,CACNB2,CACNB2 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm-rs7069923 10 18730368 [T/C] NM_201593,NM_201596,NM_201597,NM_001167945,NM_201571,NM_201572,NM_000724,NM_201590,NM_201570 CACNB2,CACNB2,CACNB2,CACNB2,CACNB2,CACNB2,CACNB2,CACNB2,CACNB2 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm-rs7076247 10 18759629 [T/C] NM_201593,NM_201596,NM_201597,NM_001167945,NM_201571,NM_201572,NM_000724,NM_201590,NM_201570 CACNB2,CACNB2,CACNB2,CACNB2,CACNB2,CACNB2,CACNB2,CACNB2,CACNB2 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm813122 10 18787330 [T/C] NM_201593,NM_201596,NM_201597,NM_001167945,NM_201571,NM_201572,NM_000724,NM_201590,NM_201570 CACNB2,CACNB2,CACNB2,CACNB2,CACNB2,CACNB2,CACNB2,CACNB2,CACNB2 EXON Missense_A127V,Missense_A127V,Missense_A127V,Missense_A99V,Missense_A99V,Missense_A99V,Missense_A72V,Missense_A73V,Missense_A79V exm813135 10 18789874 [T/C] NM_201593,NM_201596,NM_201597,NM_001167945,NM_201571,NM_201572,NM_000724,NM_201590,NM_201570 CACNB2,CACNB2,CACNB2,CACNB2,CACNB2,CACNB2,CACNB2,CACNB2,CACNB2 EXON Missense_S197F,Missense_S197F,Missense_S197F,Missense_S169F,Missense_S169F,Missense_S169F,Missense_S142F,Missense_S143F,Missense_S149F exm813137 10 18795447 [C/G] NM_201593,NM_201596,NM_201597,NM_001167945,NM_201571,NM_201572,NM_000724,NM_201590,NM_201570 CACNB2,CACNB2,CACNB2,CACNB2,CACNB2,CACNB2,CACNB2,CACNB2,CACNB2 EXON Missense_S214T,Missense_S214T,Missense_S214T,Missense_S186T,Missense_S186T,Missense_S186T,Missense_S159T,Missense_S160T,Missense_S166T exm813140 10 18803180 [A/C] NM_201593,NM_201596,NM_201597,NM_001167945,NM_201571,NM_201572,NM_000724,NM_201590,NM_201570 CACNB2,CACNB2,CACNB2,CACNB2,CACNB2,CACNB2,CACNB2,CACNB2,CACNB2 EXON Silent,Missense_A229D,Silent,Silent,Missense_A201D,Silent,Missense_A174D,Missense_A175D,Missense_A181D exm813147 10 18803444 [T/G] NM_201593,NM_201596,NM_201597,NM_001167945,NM_201571,NM_201572,NM_000724,NM_201590,NM_201570 CACNB2,CACNB2,CACNB2,CACNB2,CACNB2,CACNB2,CACNB2,CACNB2,CACNB2 EXON Missense_K225N,Silent,Silent,Missense_K197N,Silent,Silent,Silent,Silent,Silent exm813149 10 18803951 [A/G] NM_201593,NM_201596,NM_201597,NM_001167945,NM_201571,NM_201572,NM_000724,NM_201590,NM_201570 CACNB2,CACNB2,CACNB2,CACNB2,CACNB2,CACNB2,CACNB2,CACNB2,CACNB2 EXON Silent,Silent,Missense_G238D,Silent,Silent,Missense_G210D,Silent,Silent,Silent exm813169 10 18823005 [T/C] NM_201593,NM_201596,NM_201597,NM_001167945,NM_201571,NM_201572,NM_000724,NM_201590,NM_201570 CACNB2,CACNB2,CACNB2,CACNB2,CACNB2,CACNB2,CACNB2,CACNB2,CACNB2 EXON Missense_A314V,Missense_A352V,Missense_A328V,Missense_A286V,Missense_A324V,Missense_A300V,Missense_A297V,Missense_A298V,Missense_A304V exm813178 10 18823130 [A/G] NM_201593,NM_201596,NM_201597,NM_001167945,NM_201571,NM_201572,NM_000724,NM_201590,NM_201570 CACNB2,CACNB2,CACNB2,CACNB2,CACNB2,CACNB2,CACNB2,CACNB2,CACNB2 EXON Missense_V356I,Missense_V394I,Missense_V370I,Missense_V328I,Missense_V366I,Missense_V342I,Missense_V339I,Missense_V340I,Missense_V346I exm813186 10 18827163 [T/C] NM_201593,NM_201596,NM_201597,NM_001167945,NM_201571,NM_201572,NM_000724,NM_201590,NM_201570 CACNB2,CACNB2,CACNB2,CACNB2,CACNB2,CACNB2,CACNB2,CACNB2,CACNB2 EXON Missense_L415F,Missense_L453F,Missense_L429F,Missense_L387F,Missense_L425F,Missense_L401F,Missense_L398F,Missense_L399F,Missense_L405F exm813191 10 18827274 [A/C] NM_201593,NM_201596,NM_201597,NM_001167945,NM_201571,NM_201572,NM_000724,NM_201590,NM_201570 CACNB2,CACNB2,CACNB2,CACNB2,CACNB2,CACNB2,CACNB2,CACNB2,CACNB2 EXON Missense_T452P,Missense_T490P,Missense_T466P,Missense_T424P,Missense_T462P,Missense_T438P,Missense_T435P,Missense_T436P,Missense_T442P exm813193 10 18828181 [T/C] NM_201593,NM_201596,NM_201597,NM_001167945,NM_201571,NM_201572,NM_000724,NM_201590,NM_201570 CACNB2,CACNB2,CACNB2,CACNB2,CACNB2,CACNB2,CACNB2,CACNB2,CACNB2 EXON Missense_T466I,Missense_T504I,Missense_T480I,Missense_T438I,Missense_T476I,Missense_T452I,Missense_T449I,Missense_T450I,Missense_T456I exm813199 10 18828223 [A/C] NM_201593,NM_201596,NM_201597,NM_001167945,NM_201571,NM_201572,NM_000724,NM_201590,NM_201570 CACNB2,CACNB2,CACNB2,CACNB2,CACNB2,CACNB2,CACNB2,CACNB2,CACNB2 EXON Missense_E480A,Missense_E518A,Missense_E494A,Missense_E452A,Missense_E490A,Missense_E466A,Missense_E463A,Missense_E464A,Missense_E470A exm813203 10 18828261 [T/C] NM_201593,NM_201596,NM_201597,NM_001167945,NM_201571,NM_201572,NM_000724,NM_201590,NM_201570 CACNB2,CACNB2,CACNB2,CACNB2,CACNB2,CACNB2,CACNB2,CACNB2,CACNB2 EXON Missense_R493C,Missense_R531C,Missense_R507C,Missense_R465C,Missense_R503C,Missense_R479C,Missense_R476C,Missense_R477C,Missense_R483C exm1677020 10 18828340 [C/G] NM_201593,NM_201596,NM_201597,NM_001167945,NM_201571,NM_201572,NM_000724,NM_201590,NM_201570 CACNB2,CACNB2,CACNB2,CACNB2,CACNB2,CACNB2,CACNB2,CACNB2,CACNB2 EXON Missense_S519W,Missense_S557W,Missense_S533W,Missense_S491W,Missense_S529W,Missense_S505W,Missense_S502W,Missense_S503W,Missense_S509W exm1677021 10 18828372 [A/G] NM_201593,NM_201596,NM_201597,NM_001167945,NM_201571,NM_201572,NM_000724,NM_201590,NM_201570 CACNB2,CACNB2,CACNB2,CACNB2,CACNB2,CACNB2,CACNB2,CACNB2,CACNB2 EXON Missense_V530I,Missense_V568I,Missense_V544I,Missense_V502I,Missense_V540I,Missense_V516I,Missense_V513I,Missense_V514I,Missense_V520I exm1677022 10 18828446 [A/C] NM_201593,NM_201596,NM_201597,NM_001167945,NM_201571,NM_201572,NM_000724,NM_201590,NM_201570 CACNB2,CACNB2,CACNB2,CACNB2,CACNB2,CACNB2,CACNB2,CACNB2,CACNB2 EXON Missense_D554E,Missense_D592E,Missense_D568E,Missense_D526E,Missense_D564E,Missense_D540E,Missense_D537E,Missense_D538E,Missense_D544E exm813225 10 18828635 [T/G] NM_201593,NM_201596,NM_201597,NM_001167945,NM_201571,NM_201572,NM_000724,NM_201590,NM_201570 CACNB2,CACNB2,CACNB2,CACNB2,CACNB2,CACNB2,CACNB2,CACNB2,CACNB2 EXON Missense_D617E,Missense_D655E,Missense_D631E,Missense_D589E,Missense_D627E,Missense_D603E,Missense_D600E,Missense_D601E,Missense_D607E exm813226 10 18828645 [T/C] NM_201593,NM_201596,NM_201597,NM_001167945,NM_201571,NM_201572,NM_000724,NM_201590,NM_201570 CACNB2,CACNB2,CACNB2,CACNB2,CACNB2,CACNB2,CACNB2,CACNB2,CACNB2 EXON Missense_R621C,Missense_R659C,Missense_R635C,Missense_R593C,Missense_R631C,Missense_R607C,Missense_R604C,Missense_R605C,Missense_R611C exm813230 10 18834868 [C/G] NM_182543 NSUN6 EXON Missense_S468R exm813233 10 18834926 [T/C] NM_182543 NSUN6 EXON Missense_R449H exm1677031 10 18834927 [A/G] NM_182543 NSUN6 EXON Missense_R449C exm813252 10 18840802 [T/C] NM_182543 NSUN6 EXON Missense_V341M exm813258 10 18840868 [A/G] NM_182543 NSUN6 EXON Nonsense_R319X exm813265 10 18874934 [T/G] NM_182543 NSUN6 EXON Missense_A289E exm813282 10 18898836 [T/A] NM_182543 NSUN6 EXON Missense_T199S exm813285 10 18903422 [T/C] NM_182543 NSUN6 EXON Missense_R181H exm813290 10 18903522 [A/T] NM_182543 NSUN6 EXON Missense_I148F exm813295 10 18931414 [A/G] NM_182543 NSUN6 EXON Missense_I101T exm813297 10 18931433 [T/C] NM_182543 NSUN6 EXON Missense_V95M exm813301 10 18937465 [A/G] NM_182543 NSUN6 EXON Missense_A62V exm813305 10 18937564 [A/G] NM_182543 NSUN6 EXON Missense_A29V exm2249149 10 18937566 [A/G] NM_182543 NSUN6 EXON Synonymous_T28T exm-rs10829156 10 18950555 [T/C] NM_178815 ARL5B Silent exm813332 10 18964097 [A/G] NM_178815 ARL5B EXON Synonymous_G164G exm2266968 10 19209184 [A/G] exm2259564 10 19705383 [A/C] exm2249151 10 19769510 [A/G] exm-rs1326986 10 19929513 [T/C] exm813418 10 20106075 [G/C] NM_032812 PLXDC2 EXON Missense_D23H exm813425 10 20290812 [T/C] NM_032812 PLXDC2 EXON Missense_A74V exm813426 10 20290835 [A/G] NM_032812 PLXDC2 EXON Missense_V82I exm813429 10 20290901 [A/C] NM_032812 PLXDC2 EXON Missense_N104H exm813443 10 20357145 [A/G] NM_032812 PLXDC2 EXON Missense_R173H exm813445 10 20357167 [T/G] NM_032812 PLXDC2 EXON Synonymous_G180G exm813448 10 20432247 [A/G] NM_032812 PLXDC2 EXON Missense_V189I exm2267083 10 20501874 [A/G] NM_032812 PLXDC2 Silent exm813479 10 20506418 [A/G] NM_032812 PLXDC2 EXON Missense_V396I exm813480 10 20506425 [T/C] NM_032812 PLXDC2 EXON Missense_A398V exm-rs7083165 10 20516587 [T/C] NM_032812 PLXDC2 Silent exm813491 10 20534333 [A/G] NM_032812 PLXDC2 EXON Missense_I458V exm-rs1571942 10 20542634 [A/G] NM_032812 PLXDC2 Silent exm-rs12219125 10 20593087 [T/G] exm-rs12772794 10 20674653 [A/G] exm-rs16920624 10 20810525 [T/G] exm-rs2359536 10 20899608 [T/C] exm2271261 10 21048682 [T/C] exm2273462 10 21074455 [T/C] NM_006393,NM_213569,NM_001173484 NEBL,NEBL,NEBL EXON Silent,Silent,Silent exm813512 10 21074832 [A/G] NM_006393,NM_213569,NM_001173484 NEBL,NEBL,NEBL EXON Synonymous_Y963Y,Synonymous_Y219Y,Nonsense_R219X exm813519 10 21097453 [A/G] NM_006393,NM_213569,NM_001173484 NEBL,NEBL,NEBL EXON Missense_P916L,Silent,Silent exm813524 10 21097546 [A/G] NM_006393,NM_213569,NM_001173484 NEBL,NEBL,NEBL EXON Missense_S885F,Silent,Silent exm813538 10 21101734 [T/C] NM_006393,NM_213569,NM_001173484 NEBL,NEBL,NEBL EXON Missense_I828V,Missense_I165V,Missense_I165V exm813547 10 21102870 [T/C] NM_006393,NM_213569,NM_001173484 NEBL,NEBL,NEBL EXON Missense_M782V,Silent,Silent exm813558 10 21104613 [T/C] NM_006393,NM_213569,NM_001173484 NEBL,NEBL,NEBL EXON Missense_T728A,Silent,Silent exm813569 10 21106620 [A/G] NM_006393,NM_213569,NM_001173484 NEBL,NEBL,NEBL EXON Missense_V686A,Silent,Silent exm813571 10 21108354 [A/G] NM_006393,NM_213569,NM_001173484 NEBL,NEBL,NEBL EXON Missense_A685V,Silent,Silent exm813579 10 21112137 [T/A] NM_006393,NM_213569,NM_001173484 NEBL,NEBL,NEBL EXON Missense_N654K,Silent,Silent exm1677164 10 21112145 [T/G] NM_006393,NM_213569,NM_001173484 NEBL,NEBL,NEBL EXON Missense_I652L,Silent,Silent exm1677165 10 21112229 [C/G] NM_006393,NM_213569,NM_001173484 NEBL,NEBL,NEBL EXON Missense_V624L,Silent,Silent exm813583 10 21115384 [T/C] NM_006393,NM_213569,NM_001173484 NEBL,NEBL,NEBL EXON Missense_I621V,Silent,Silent exm813584 10 21115407 [T/C] NM_006393,NM_213569,NM_001173484 NEBL,NEBL,NEBL EXON Missense_R613Q,Silent,Silent exm813585 10 21115408 [A/G] NM_006393,NM_213569,NM_001173484 NEBL,NEBL,NEBL EXON Nonsense_R613X,Silent,Silent exm2275295 10 21117460 [A/G] NM_006393,NM_213569,NM_001173484 NEBL,NEBL,NEBL EXON Missense_A592V,Silent,Silent exm813601 10 21124452 [A/G] NM_006393,NM_213569,NM_001173484 NEBL,NEBL,NEBL EXON Missense_I480T,Silent,Silent exm813603 10 21124525 [T/C] NM_006393,NM_213569,NM_001173484 NEBL,NEBL,NEBL EXON Missense_I456V,Silent,Silent exm2217021 10 21129704 [G/C] NM_006393,NM_213569,NM_001173484 NEBL,NEBL,NEBL EXON Missense_I434M,Silent,Silent exm1677182 10 21129751 [A/C] NM_006393,NM_213569,NM_001173484 NEBL,NEBL,NEBL EXON Nonsense_E419X,Silent,Silent exm813612 10 21134282 [C/G] NM_006393,NM_213569,NM_001173484 NEBL,NEBL,NEBL EXON Missense_D378H,Silent,Silent exm813617 10 21139389 [T/C] NM_006393,NM_213569,NM_001173484 NEBL,NEBL,NEBL EXON Missense_M351V,Silent,Silent exm813622 10 21141488 [T/C] NM_006393,NM_213569,NM_001173484 NEBL,NEBL,NEBL EXON Missense_V332I,Silent,Silent exm813625 10 21141574 [T/C] NM_006393,NM_213569,NM_001173484 NEBL,NEBL,NEBL EXON Missense_E303G,Silent,Silent exm813630 10 21147169 [A/G] NM_006393,NM_213569,NM_001173484 NEBL,NEBL,NEBL EXON Synonymous_G301G,Silent,Silent exm813636 10 21148700 [T/C] NM_006393,NM_213569,NM_001173484 NEBL,NEBL,NEBL EXON Missense_N247S,Silent,Silent exm813644 10 21157595 [C/G] NM_006393,NM_213569,NM_001173484 NEBL,NEBL,NEBL EXON Missense_Q228E,Silent,Silent exm813645 10 21157607 [T/C] NM_006393,NM_213569,NM_001173484 NEBL,NEBL,NEBL EXON Missense_K224E,Silent,Silent exm813648 10 21157621 [T/G] NM_006393,NM_213569,NM_001173484 NEBL,NEBL,NEBL EXON Missense_A219D,Silent,Silent exm813651 10 21157652 [T/C] NM_006393,NM_213569,NM_001173484 NEBL,NEBL,NEBL EXON Missense_A209T,Silent,Silent exm1677200 10 21158690 [C/G] NM_006393,NM_213569,NM_001173484 NEBL,NEBL,NEBL EXON Missense_Q187H,Silent,Silent exm813659 10 21158728 [T/C] NM_006393,NM_213569,NM_001173484 NEBL,NEBL,NEBL EXON Missense_A175T,Silent,Silent exm813669 10 21169773 [C/G] NM_006393,NM_213569,NM_001173484 NEBL,NEBL,NEBL EXON Missense_E144Q,Silent,Silent exm813671 10 21169820 [A/T] NM_006393,NM_213569,NM_001173484 NEBL,NEBL,NEBL EXON Missense_Q128L,Silent,Silent exm813672 10 21169830 [T/C] NM_006393,NM_213569,NM_001173484 NEBL,NEBL,NEBL EXON Missense_A125T,Silent,Silent exm813676 10 21177128 [G/C] NM_006393,NM_213569,NM_001173484 NEBL,NEBL,NEBL EXON Nonsense_Y89X,Silent,Silent exm813678 10 21178773 [T/C] NM_006393,NM_213569,NM_001173484 NEBL,NEBL,NEBL Silent,Silent,Silent exm813684 10 21178841 [T/C] NM_006393,NM_213569,NM_001173484 NEBL,NEBL,NEBL EXON Missense_K64R,Silent,Silent exm813686 10 21178852 [G/C] NM_006393,NM_213569,NM_001173484 NEBL,NEBL,NEBL EXON Missense_K60N,Silent,Silent exm813700 10 21186124 [A/G] NM_006393,NM_213569,NM_001173484 NEBL,NEBL,NEBL EXON Missense_P4L,Silent,Silent exm813702 10 21250601 [A/G] NM_213569,NM_001173484 NEBL,NEBL EXON Synonymous_N119N,Synonymous_N119N exm813708 10 21414764 [T/C] NM_213569,NM_001173484,NM_001177483,NM_001010896 NEBL,NEBL,C10orf113,C10orf113 EXON Silent,Silent,Silent,Missense_M152I exm813710 10 21414816 [T/C] NM_213569,NM_001173484,NM_001177483,NM_001010896 NEBL,NEBL,C10orf113,C10orf113 EXON Silent,Silent,Silent,Missense_K135R exm813713 10 21414892 [C/G] NM_213569,NM_001173484,NM_001177483,NM_001010896 NEBL,NEBL,C10orf113,C10orf113 EXON Silent,Silent,Silent,Missense_D110H exm813718 10 21414963 [G/C] NM_213569,NM_001173484,NM_001177483,NM_001010896 NEBL,NEBL,C10orf113,C10orf113 EXON Silent,Silent,Silent,Missense_T86R exm813722 10 21415006 [T/C] NM_213569,NM_001173484,NM_001177483,NM_001010896 NEBL,NEBL,C10orf113,C10orf113 EXON Silent,Silent,Silent,Missense_R72G exm813724 10 21415036 [A/G] NM_213569,NM_001173484,NM_001177483,NM_001010896 NEBL,NEBL,C10orf113,C10orf113 EXON Silent,Silent,Synonymous_N73N,Missense_R62W exm813726 10 21435317 [A/G] NM_213569,NM_001173484,NM_001177483,NM_001010896 NEBL,NEBL,C10orf113,C10orf113 EXON Silent,Silent,Missense_S41P,Missense_S41P exm813727 10 21435322 [T/C] NM_213569,NM_001173484,NM_001177483,NM_001010896 NEBL,NEBL,C10orf113,C10orf113 EXON Silent,Silent,Missense_N39S,Missense_N39S exm813731 10 21435347 [A/C] NM_213569,NM_001173484,NM_001177483,NM_001010896 NEBL,NEBL,C10orf113,C10orf113 EXON Silent,Silent,Nonsense_E31X,Nonsense_E31X exm813733 10 21435397 [A/G] NM_213569,NM_001173484,NM_001177483,NM_001010896 NEBL,NEBL,C10orf113,C10orf113 EXON Silent,Silent,Missense_M14T,Missense_M14T exm2259566 10 21455373 [T/C] NM_213569,NM_001173484 NEBL,NEBL Silent,Silent exm2266970 10 21616815 [A/G] exm813746 10 21784603 [T/C] NM_001010911 C10orf114 EXON Missense_D113N exm813749 10 21784647 [A/C] NM_001010911 C10orf114 EXON Missense_R98L exm813760 10 21784761 [A/G] NM_001010911 C10orf114 EXON Missense_A60V exm813774 10 21804386 [T/C] NM_207371 SKIDA1 EXON Missense_R789Q exm813777 10 21804503 [C/G] NM_207371 SKIDA1 EXON Missense_P750R exm1677242 10 21804731 [A/G] NM_207371 SKIDA1 EXON Missense_T674I exm2249156 10 21804868 [T/C] NM_207371 SKIDA1 EXON Synonymous_A628A exm813792 10 21804996 [T/C] NM_207371 SKIDA1 EXON Missense_N586D exm813795 10 21805067 [T/C] NM_207371 SKIDA1 EXON Missense_N562S exm813797 10 21805167 [T/C] NM_207371 SKIDA1 EXON Missense_A529T exm813801 10 21805241 [T/C] NM_207371 SKIDA1 EXON Missense_R504K exm813805 10 21805454 [A/G] NM_207371 SKIDA1 EXON Missense_A433V exm813847 10 21823601 [C/G] NM_004641,NM_001195627,NM_001195628,NM_001195630,NM_001195626 MLLT10,MLLT10,MLLT10,MLLT10,MLLT10 EXON Missense_L10V,Missense_L10V,Missense_L10V,Missense_L10V,Missense_L10V exm813864 10 21845854 [A/G] NM_004641,NM_001195627,NM_001195628,NM_001195630,NM_001195626 MLLT10,MLLT10,MLLT10,MLLT10,MLLT10 EXON Silent,Silent,Missense_K175E,Missense_K175E,Silent exm813887 10 21906135 [A/G] NM_004641,NM_001195626 MLLT10,MLLT10 EXON Missense_K233R,Missense_K233R exm813900 10 21959598 [T/G] NM_004641,NM_001195626 MLLT10,MLLT10 EXON Missense_G339V,Missense_G339V exm2249157 10 21998445 [A/C] NM_004641,NM_001195626 MLLT10,MLLT10 Silent,Silent exm813949 10 22015206 [T/G] NM_004641,NM_001195626 MLLT10,MLLT10 EXON Missense_A654S,Missense_A638S exm813950 10 22015236 [A/G] NM_004641,NM_001195626 MLLT10,MLLT10 EXON Missense_N664D,Missense_N648D exm813951 10 22015240 [T/C] NM_004641,NM_001195626 MLLT10,MLLT10 EXON Missense_S665L,Missense_S649L exm1677297 10 22019854 [T/C] NM_004641,NM_001195626 MLLT10,MLLT10 EXON Missense_R713C,Missense_R697C exm813962 10 22019855 [A/G] NM_004641,NM_001195626 MLLT10,MLLT10 EXON Missense_R713H,Missense_R697H exm1677308 10 22022704 [T/C] NM_004641,NM_001195626 MLLT10,MLLT10 EXON Missense_T851I,Missense_T835I exm813979 10 22022791 [T/C] NM_004641,NM_001195626 MLLT10,MLLT10 EXON Missense_V880A,Missense_V864A exm814013 10 22048223 [T/C] NM_022365 DNAJC1 EXON Missense_R491Q exm1677320 10 22048296 [A/G] NM_022365 DNAJC1 EXON Missense_R467W exm814021 10 22048373 [T/C] NM_022365 DNAJC1 EXON Missense_R441Q exm814045 10 22171224 [A/G] NM_022365 DNAJC1 EXON Missense_T322I exm1677333 10 22193497 [G/C] NM_022365 DNAJC1 EXON Missense_K258N exm814051 10 22193508 [T/C] NM_022365 DNAJC1 EXON Missense_T255A exm814059 10 22209876 [T/C] NM_022365 DNAJC1 EXON Missense_I130V exm814060 10 22209885 [T/C] NM_022365 DNAJC1 EXON Missense_D127N exm814062 10 22217445 [A/G] NM_022365 DNAJC1 EXON Nonsense_R121X exm2271383 10 22319508 [T/C] exm814073 10 22498209 [A/G] NM_001199938 EBLN1 EXON Missense_M235T exm2217032 10 22498295 [T/C] NM_001199938 EBLN1 EXON Missense_M206I exm814074 10 22498450 [A/C] NM_001199938 EBLN1 EXON Missense_C155G exm814075 10 22498468 [T/C] NM_001199938 EBLN1 EXON Missense_G149R exm814083 10 22605398 [G/C] NM_012071,NM_001204062 COMMD3,COMMD3-BMI1 EXON Missense_R18G,Missense_R18G exm814086 10 22605438 [A/C] NM_012071,NM_001204062 COMMD3,COMMD3-BMI1 EXON Missense_A31E,Missense_A31E exm814108 10 22607644 [T/G] NM_012071,NM_001204062 COMMD3,COMMD3-BMI1 Silent,Silent exm814114 10 22607901 [T/C] NM_012071,NM_001204062 COMMD3,COMMD3-BMI1 EXON Missense_P161L,Missense_H122Y exm814183 10 22675857 [A/G] NM_172242,NM_001253855,NM_012443,NM_001253854 SPAG6,SPAG6,SPAG6,SPAG6 EXON Missense_Q216R,Missense_Q194R,Missense_Q216R,Missense_Q191R exm814188 10 22676779 [T/G] NM_172242,NM_001253855,NM_012443,NM_001253854 SPAG6,SPAG6,SPAG6,SPAG6 EXON Missense_V236F,Missense_V214F,Missense_V236F,Missense_V211F exm814194 10 22678149 [T/A] NM_172242,NM_001253855,NM_012443,NM_001253854 SPAG6,SPAG6,SPAG6,SPAG6 EXON Missense_C305S,Missense_C283S,Missense_C305S,Missense_C280S exm814202 10 22680787 [A/G] NM_172242,NM_001253855,NM_012443,NM_001253854 SPAG6,SPAG6,SPAG6,SPAG6 EXON Missense_T379A,Missense_T357A,Missense_T379A,Missense_T354A exm1677395 10 22690129 [T/C] NM_172242,NM_001253855,NM_012443,NM_001253854 SPAG6,SPAG6,SPAG6,SPAG6 EXON Missense_Y413H,Missense_Y391H,Missense_Y413H,Missense_Y388H exm814212 10 22699988 [A/G] NM_172242,NM_001253855,NM_012443,NM_001253854 SPAG6,SPAG6,SPAG6,SPAG6 EXON Silent,Missense_R426Q,Missense_R448Q,Missense_R423Q exm2267084 10 22715057 [A/G] exm814228 10 22830757 [T/C] NM_005028 PIP4K2A EXON Missense_V338I exm814232 10 22830790 [T/G] NM_005028 PIP4K2A EXON Missense_L327M exm814241 10 22839628 [T/C] NM_005028 PIP4K2A EXON Missense_N251S exm2264382 10 22852948 [A/C] NM_005028 PIP4K2A Silent exm814249 10 22856802 [T/C] NM_005028 PIP4K2A EXON Missense_R219K exm2249160 10 22896916 [A/G] NM_005028 PIP4K2A EXON Synonymous_Y93Y exm1677436 10 23248457 [A/C] NM_173081 ARMC3 EXON Missense_P164Q exm814300 10 23250814 [A/G] NM_173081 ARMC3 EXON Missense_D180G exm814301 10 23250826 [A/G] NM_173081 ARMC3 EXON Missense_R184Q exm814302 10 23250849 [T/G] NM_173081 ARMC3 EXON Missense_A192S exm814308 10 23257246 [A/C] NM_173081 ARMC3 EXON Missense_D248E exm1677441 10 23257325 [T/G] NM_173081 ARMC3 EXON Missense_G275C exm814316 10 23270355 [A/G] NM_173081 ARMC3 EXON Missense_A335T exm814318 10 23270386 [A/G] NM_173081 ARMC3 EXON Missense_E345G exm814320 10 23270532 [G/C] NM_173081 ARMC3 EXON Missense_Q360E exm814325 10 23287077 [T/C] NM_173081 ARMC3 EXON Synonymous_N392N exm2276876 10 23287132 [C/G] NM_173081 ARMC3 EXON Missense_R411G exm814332 10 23287216 [A/G] NM_173081 ARMC3 EXON Missense_D439N exm814334 10 23287234 [A/G] NM_173081 ARMC3 EXON Missense_I445V exm814341 10 23290937 [A/G] NM_173081 ARMC3 EXON Missense_M505I exm814344 10 23292203 [A/G] NM_173081 ARMC3 EXON Missense_V531I exm814346 10 23292216 [A/G] NM_173081 ARMC3 EXON Missense_R535Q exm814353 10 23295876 [T/C] NM_173081 ARMC3 EXON Missense_R599W exm814359 10 23295903 [T/C] NM_173081 ARMC3 EXON Missense_S608P exm814365 10 23297252 [A/G] NM_173081 ARMC3 EXON Missense_R626Q exm814366 10 23297257 [A/G] NM_173081 ARMC3 EXON Missense_I628V exm814378 10 23319653 [T/C] NM_173081 ARMC3 EXON Missense_M725T exm814388 10 23326273 [A/G] NM_173081 ARMC3 EXON Missense_M828I exm814390 10 23326290 [A/G] NM_173081 ARMC3 EXON Missense_R834Q exm814392 10 23326302 [T/C] NM_173081 ARMC3 EXON Missense_I838T exm814402 10 23393085 [T/C] NM_012228 MSRB2 EXON Missense_T44M exm814404 10 23393091 [A/G] NM_012228 MSRB2 EXON Missense_E46G exm814407 10 23393150 [A/G] NM_012228 MSRB2 EXON Missense_T66A exm814408 10 23393172 [T/C] NM_012228 MSRB2 EXON Missense_P73L exm814412 10 23399192 [A/G] NM_012228 MSRB2 EXON Missense_N81D exm814413 10 23399194 [T/A] NM_012228 MSRB2 EXON Missense_N81K exm814417 10 23408243 [A/C] NM_012228 MSRB2 EXON Missense_K103Q exm814422 10 23408330 [T/C] NM_012228 MSRB2 EXON Missense_R132C exm2217038 10 23409790 [T/G] NM_012228 MSRB2 EXON Missense_X183L exm814428 10 23481467 [T/C] NM_178161 PTF1A EXON Missense_A3V exm814429 10 23481503 [T/C] NM_178161 PTF1A EXON Missense_A15V exm814435 10 23481623 [A/G] NM_178161 PTF1A EXON Missense_H55R exm814452 10 23482635 [T/C] NM_178161 PTF1A EXON Missense_S263P exm814456 10 23482699 [A/C] NM_178161 PTF1A EXON Missense_T284N exm814481 10 23633501 [T/G] NM_153714 C10orf67 EXON Missense_T69K exm814491 10 23633660 [A/G] NM_153714 C10orf67 EXON Missense_I16T exm-rs1398024 10 23665438 [T/G] exm814498 10 23729362 [A/T] NM_001145373 OTUD1 EXON Missense_S326C exm2249162 10 23936020 [A/G] exm2271384 10 24133028 [T/C] NM_001098500 KIAA1217 Silent exm-rs2067701 10 24326623 [T/C] NM_001098500 KIAA1217 Silent exm2249163 10 24489659 [A/G] NM_001098500 KIAA1217 Silent exm-rs11013962 10 24495586 [A/G] NM_001098500 KIAA1217 Silent exm814510 10 24498169 [T/C] NM_001098500,NM_019590,NM_001098501 KIAA1217,KIAA1217,KIAA1217 EXON Silent,Missense_S16L,Missense_S16L exm814521 10 24508620 [T/C] NM_001098500,NM_019590,NM_001098501 KIAA1217,KIAA1217,KIAA1217 EXON Silent,Missense_R46C,Missense_R46C exm-rs2484873 10 24634956 [A/G] NM_001098500,NM_019590,NM_001098501 KIAA1217,KIAA1217,KIAA1217 Silent,Silent,Silent exm814540 10 24669877 [G/C] NM_001098500,NM_019590,NM_001098501 KIAA1217,KIAA1217,KIAA1217 EXON Missense_A65G,Missense_A145G,Missense_A145G exm2217041 10 24762214 [A/T] NM_001098500,NM_019590,NM_001098501 KIAA1217,KIAA1217,KIAA1217 EXON Missense_S222T,Missense_S302T,Missense_S302T exm814559 10 24762251 [A/C] NM_001098500,NM_019590,NM_001098501 KIAA1217,KIAA1217,KIAA1217 EXON Missense_P234Q,Missense_P314Q,Missense_P314Q exm814576 10 24762517 [C/G] NM_001098500,NM_019590,NM_001098501 KIAA1217,KIAA1217,KIAA1217 EXON Missense_R323G,Missense_R403G,Missense_R403G exm814583 10 24762617 [A/G] NM_001098500,NM_019590,NM_001098501 KIAA1217,KIAA1217,KIAA1217 EXON Missense_C356Y,Missense_C436Y,Missense_C436Y exm814585 10 24762686 [T/C] NM_001098500,NM_019590,NM_001098501 KIAA1217,KIAA1217,KIAA1217 EXON Missense_P379L,Missense_P459L,Missense_P459L exm814593 10 24762790 [A/G] NM_001098500,NM_019590,NM_001098501 KIAA1217,KIAA1217,KIAA1217 EXON Missense_G414S,Missense_G494S,Missense_G494S exm814596 10 24762833 [A/G] NM_001098500,NM_019590,NM_001098501 KIAA1217,KIAA1217,KIAA1217 EXON Missense_R428H,Missense_R508H,Missense_R508H exm814601 10 24762892 [A/G] NM_001098500,NM_019590,NM_001098501 KIAA1217,KIAA1217,KIAA1217 EXON Missense_A448T,Missense_A528T,Missense_A528T exm814609 10 24783521 [A/G] NM_001098500,NM_019590,NM_001098501 KIAA1217,KIAA1217,KIAA1217 EXON Missense_K511R,Missense_K591R,Silent exm814610 10 24783527 [T/C] NM_001098500,NM_019590,NM_001098501 KIAA1217,KIAA1217,KIAA1217 EXON Missense_A513V,Missense_A593V,Silent exm814619 10 24790314 [A/C] NM_001098500,NM_019590,NM_001098501 KIAA1217,KIAA1217,KIAA1217 EXON Missense_P534H,Missense_P614H,Missense_P579H exm814623 10 24790335 [T/C] NM_001098500,NM_019590,NM_001098501 KIAA1217,KIAA1217,KIAA1217 EXON Missense_M541T,Missense_M621T,Missense_M586T exm1677543 10 24790382 [A/G] NM_001098500,NM_019590,NM_001098501 KIAA1217,KIAA1217,KIAA1217 EXON Missense_V557M,Missense_V637M,Missense_V602M exm814655 10 24810825 [A/G] NM_001098500,NM_019590,NM_001098501 KIAA1217,KIAA1217,KIAA1217 EXON Missense_R728H,Missense_R808H,Missense_R773H exm814670 10 24813427 [A/C] NM_001098500,NM_019590,NM_001098501 KIAA1217,KIAA1217,KIAA1217 EXON Missense_P798T,Missense_P878T,Missense_P843T exm814672 10 24813436 [A/G] NM_001098500,NM_019590,NM_001098501 KIAA1217,KIAA1217,KIAA1217 EXON Missense_G801S,Missense_G881S,Missense_G846S exm814673 10 24813443 [T/C] NM_001098500,NM_019590,NM_001098501 KIAA1217,KIAA1217,KIAA1217 EXON Missense_M803T,Missense_M883T,Missense_M848T exm814675 10 24813454 [A/G] NM_001098500,NM_019590,NM_001098501 KIAA1217,KIAA1217,KIAA1217 EXON Missense_A807T,Missense_A887T,Missense_A852T exm1677559 10 24813455 [T/C] NM_001098500,NM_019590,NM_001098501 KIAA1217,KIAA1217,KIAA1217 EXON Missense_A807V,Missense_A887V,Missense_A852V exm814680 10 24813493 [T/C] NM_001098500,NM_019590,NM_001098501 KIAA1217,KIAA1217,KIAA1217 EXON Missense_S820P,Missense_S900P,Missense_S865P exm814685 10 24813550 [A/G] NM_001098500,NM_019590,NM_001098501 KIAA1217,KIAA1217,KIAA1217 EXON Missense_V839I,Missense_V919I,Missense_V884I exm814692 10 24813693 [C/G] NM_001098500,NM_019590,NM_001098501 KIAA1217,KIAA1217,KIAA1217 EXON Missense_E886D,Missense_E966D,Missense_E931D exm1677565 10 24816869 [T/C] NM_001098500,NM_019590,NM_001098501 KIAA1217,KIAA1217,KIAA1217 EXON Missense_A888V,Missense_A968V,Missense_A933V exm814696 10 24816911 [A/G] NM_001098500,NM_019590,NM_001098501 KIAA1217,KIAA1217,KIAA1217 EXON Missense_Y902C,Missense_Y982C,Missense_Y947C exm814702 10 24817027 [T/G] NM_001098500,NM_019590,NM_001098501 KIAA1217,KIAA1217,KIAA1217 EXON Missense_V941L,Missense_V1021L,Missense_V986L exm814710 10 24820846 [T/C] NM_001098500,NM_019590,NM_001098501 KIAA1217,KIAA1217,KIAA1217 EXON Missense_L977P,Missense_L1057P,Missense_L1022P exm814714 10 24820896 [A/G] NM_001098500,NM_019590,NM_001098501 KIAA1217,KIAA1217,KIAA1217 EXON Missense_G994S,Missense_G1074S,Missense_G1039S exm814721 10 24822104 [T/G] NM_001098500,NM_019590,NM_001098501 KIAA1217,KIAA1217,KIAA1217 EXON Missense_S1038A,Missense_S1118A,Missense_S1083A exm814729 10 24825761 [A/G] NM_001098500,NM_019590,NM_001098501 KIAA1217,KIAA1217,KIAA1217 EXON Silent,Missense_R1158Q,Silent exm814739 10 24831685 [A/G] NM_001098500,NM_019590,NM_001098501 KIAA1217,KIAA1217,KIAA1217 EXON Silent,Missense_M1200V,Silent exm814740 10 24831846 [T/C] NM_001098500,NM_019590,NM_001098501 KIAA1217,KIAA1217,KIAA1217 EXON Silent,Missense_P1216L,Silent exm2276098 10 24832033 [A/T] NM_001098500,NM_019590,NM_001098501 KIAA1217,KIAA1217,KIAA1217 EXON Silent,Missense_D1278E,Silent exm814747 10 24832062 [T/G] NM_001098500,NM_019590,NM_001098501 KIAA1217,KIAA1217,KIAA1217 EXON Silent,Missense_G1288V,Silent exm814749 10 24832098 [T/C] NM_001098500,NM_019590,NM_001098501 KIAA1217,KIAA1217,KIAA1217 EXON Silent,Missense_T1300M,Silent exm814757 10 24832283 [G/C] NM_001098500,NM_019590,NM_001098501 KIAA1217,KIAA1217,KIAA1217 EXON Silent,Missense_P1362A,Silent exm814766 10 24832500 [A/C] NM_001098500,NM_019590,NM_001098501 KIAA1217,KIAA1217,KIAA1217 EXON Silent,Missense_P1434Q,Silent exm814772 10 24832559 [T/C] NM_001098500,NM_019590,NM_001098501 KIAA1217,KIAA1217,KIAA1217 EXON Silent,Missense_R1454W,Silent exm814773 10 24832584 [T/C] NM_001098500,NM_019590,NM_001098501 KIAA1217,KIAA1217,KIAA1217 EXON Silent,Missense_T1462I,Silent exm814777 10 24832718 [A/G] NM_001098500,NM_019590,NM_001098501 KIAA1217,KIAA1217,KIAA1217 EXON Silent,Missense_A1507T,Silent exm814781 10 24832744 [A/C] NM_001098500,NM_019590,NM_001098501 KIAA1217,KIAA1217,KIAA1217 EXON Silent,Missense_Q1515H,Silent exm814788 10 24832881 [T/C] NM_001098500,NM_019590,NM_001098501 KIAA1217,KIAA1217,KIAA1217 EXON Silent,Missense_A1561V,Silent exm814813 10 24833355 [A/G] NM_001098500,NM_019590,NM_001098501 KIAA1217,KIAA1217,KIAA1217 EXON Silent,Missense_D1719G,Silent exm1677605 10 24833920 [A/G] NM_001098500,NM_019590,NM_001098501 KIAA1217,KIAA1217,KIAA1217 EXON Missense_G1062E,Missense_G1741E,Missense_G1107E exm814833 10 24834889 [G/C] NM_001098500,NM_019590,NM_001098501 KIAA1217,KIAA1217,KIAA1217 EXON Missense_S1144C,Missense_S1823C,Missense_S1189C exm814838 10 24834997 [A/G] NM_001098500,NM_019590,NM_001098501 KIAA1217,KIAA1217,KIAA1217 EXON Missense_N1180S,Missense_N1859S,Missense_N1225S exm1677613 10 24835221 [T/G] NM_001098500,NM_019590,NM_001098501 KIAA1217,KIAA1217,KIAA1217 EXON Missense_A1255S,Missense_A1934S,Missense_A1300S exm814894 10 24874725 [A/G] NM_020824 ARHGAP21 EXON Missense_T1498M exm814914 10 24880195 [G/C] NM_020824 ARHGAP21 EXON Missense_T1370S exm2249164 10 24884829 [A/G] NM_020824 ARHGAP21 EXON Synonymous_D1207D exm814927 10 24884829 [A/G] NM_020824 ARHGAP21 EXON Synonymous_D1207D exm814937 10 24885785 [T/C] NM_020824 ARHGAP21 EXON Missense_G1121S exm814939 10 24886394 [T/C] NM_020824 ARHGAP21 EXON Missense_R1106G exm814941 10 24886418 [A/G] NM_020824 ARHGAP21 EXON Missense_H1098Y exm814951 10 24889799 [C/G] NM_020824 ARHGAP21 EXON Missense_L970V exm814952 10 24889808 [T/C] NM_020824 ARHGAP21 EXON Missense_G967S exm814958 10 24891013 [A/G] NM_020824 ARHGAP21 EXON Missense_S914L exm2276971 10 24896519 [C/G] NM_020824 ARHGAP21 EXON Missense_P865A exm1677657 10 24896519 [A/G] NM_020824 ARHGAP21 EXON Missense_P865S exm1677658 10 24896675 [A/G] NM_020824 ARHGAP21 EXON Synonymous_H860H exm814964 10 24896697 [T/C] NM_020824 ARHGAP21 EXON Missense_R853H exm814971 10 24908437 [A/G] NM_020824 ARHGAP21 EXON Missense_P796L exm814982 10 24908614 [A/C] NM_020824 ARHGAP21 EXON Missense_L737R exm1677667 10 24908998 [T/C] NM_020824 ARHGAP21 EXON Missense_R609Q exm815031 10 24909804 [T/A] NM_020824 ARHGAP21 EXON Missense_E340D exm815051 10 24922388 [T/C] NM_020824 ARHGAP21 EXON Missense_N128S exm815052 10 24922404 [A/G] NM_020824 ARHGAP21 EXON Nonsense_R123X exm1677683 10 24959317 [T/C] NM_020824 ARHGAP21 EXON Missense_N25D exm815067 10 25138783 [T/C] NM_020200 PRTFDC1 EXON Missense_Y223C exm2276924 10 25138812 [A/G] NM_020200 PRTFDC1 EXON Synonymous_C213C exm2275239 10 25144247 [A/G] NM_020200 PRTFDC1 EXON Missense_Y185H exm815082 10 25145915 [T/C] NM_020200 PRTFDC1 EXON Missense_G145R exm815087 10 25147322 [T/C] NM_020200 PRTFDC1 EXON Missense_E141G exm2274396 10 25147326 [A/C] NM_020200 PRTFDC1 EXON Missense_V140F exm815091 10 25160949 [T/C] NM_020200 PRTFDC1 EXON Missense_D128G exm815110 10 25226160 [A/G] NM_020200 PRTFDC1 EXON Nonsense_R98X exm815119 10 25241467 [T/C] NM_020200 PRTFDC1 EXON Missense_R13Q exm815120 10 25241489 [T/C] NM_020200 PRTFDC1 EXON Missense_E6K exm815122 10 25241502 [T/C] NM_020200 PRTFDC1 EXON Missense_M1I exm2259571 10 25242922 [T/C] exm2271264 10 25244392 [T/C] exm815134 10 25273675 [T/C] NM_145010,NM_001270383,NR_072992,NR_072993 ENKUR,ENKUR,ENKUR,ENKUR EXON Missense_I252V,Missense_I190V,Silent,Silent exm815136 10 25273744 [T/C] NM_145010,NM_001270383,NR_072992,NR_072993 ENKUR,ENKUR,ENKUR,ENKUR EXON Missense_R229G,Missense_R167G,Silent,Silent exm815137 10 25273752 [T/C] NM_145010,NM_001270383,NR_072992,NR_072993 ENKUR,ENKUR,ENKUR,ENKUR EXON Missense_R226H,Missense_R164H,Silent,Silent exm1677712 10 25273753 [A/G] NM_145010,NM_001270383,NR_072992,NR_072993 ENKUR,ENKUR,ENKUR,ENKUR EXON Missense_R226C,Missense_R164C,Silent,Silent exm815147 10 25279456 [T/C] NM_145010,NM_001270383,NR_072992,NR_072993 ENKUR,ENKUR,ENKUR,ENKUR EXON Missense_Q177R,Missense_Q115R,Silent,Silent exm815154 10 25284650 [A/C] NM_145010,NM_001270383,NR_072992,NR_072993 ENKUR,ENKUR,ENKUR,ENKUR EXON Missense_I124M,Missense_I62M,Silent,Silent exm815159 10 25284759 [A/C] NM_145010,NM_001270383,NR_072992,NR_072993 ENKUR,ENKUR,ENKUR,ENKUR EXON Missense_V88G,Missense_V26G,Silent,Silent exm815167 10 25288405 [G/C] NM_145010,NM_001270383,NR_072992,NR_072993 ENKUR,ENKUR,ENKUR,ENKUR EXON Missense_G50R,Silent,Silent,Silent exm815168 10 25288415 [T/C] NM_145010,NM_001270383,NR_072992,NR_072993 ENKUR,ENKUR,ENKUR,ENKUR EXON Missense_M46I,Silent,Silent,Silent exm815170 10 25288470 [A/T] NM_145010,NM_001270383,NR_072992,NR_072993 ENKUR,ENKUR,ENKUR,ENKUR EXON Missense_I28K,Silent,Silent,Silent exm815174 10 25304822 [A/G] NM_145010,NM_001270383,NR_072992,NR_072993 ENKUR,ENKUR,ENKUR,ENKUR EXON Missense_P15L,Silent,Silent,Silent exm1677717 10 25304852 [A/C] NM_145010,NM_001270383,NR_072992,NR_072993 ENKUR,ENKUR,ENKUR,ENKUR EXON Missense_C5F,Silent,Silent,Silent exm815177 10 25312168 [T/C] NM_001270383,NM_024838 ENKUR,THNSL1 EXON Silent,Nonsense_R6X exm815180 10 25312271 [T/C] NM_001270383,NM_024838 ENKUR,THNSL1 EXON Silent,Missense_A40V exm815182 10 25312306 [A/C] NM_001270383,NM_024838 ENKUR,THNSL1 EXON Silent,Missense_L52I exm2217051 10 25312571 [T/C] NM_001270383,NM_024838 ENKUR,THNSL1 EXON Silent,Missense_A140V exm815196 10 25312861 [A/G] NM_001270383,NM_024838 ENKUR,THNSL1 EXON Silent,Missense_V237I exm815197 10 25312868 [G/C] NM_001270383,NM_024838 ENKUR,THNSL1 EXON Silent,Missense_P239R exm815198 10 25312895 [A/C] NM_001270383,NM_024838 ENKUR,THNSL1 EXON Silent,Missense_A248E exm815201 10 25313016 [C/G] NM_001270383,NM_024838 ENKUR,THNSL1 EXON Silent,Nonsense_Y288X exm815204 10 25313059 [T/G] NM_001270383,NM_024838 ENKUR,THNSL1 EXON Silent,Missense_A303S exm815207 10 25313099 [T/C] NM_001270383,NM_024838 ENKUR,THNSL1 EXON Silent,Missense_T316I exm815211 10 25313254 [A/C] NM_001270383,NM_024838 ENKUR,THNSL1 EXON Silent,Missense_P368T exm815218 10 25313348 [A/G] NM_001270383,NM_024838 ENKUR,THNSL1 EXON Silent,Missense_Q399R exm815227 10 25313617 [A/G] NM_001270383,NM_024838 ENKUR,THNSL1 EXON Silent,Missense_D489N exm815230 10 25313645 [T/C] NM_001270383,NM_024838 ENKUR,THNSL1 EXON Silent,Missense_F498S exm815231 10 25313667 [T/A] NM_001270383,NM_024838 ENKUR,THNSL1 EXON Silent,Nonsense_C505X exm2217053 10 25313839 [T/C] NM_001270383,NM_024838 ENKUR,THNSL1 EXON Silent,Missense_S563P exm815255 10 25314323 [T/C] NM_001270383,NM_024838 ENKUR,THNSL1 EXON Silent,Missense_A724V exm815268 10 25464527 [A/C] NR_027333,NM_020752 GPR158-AS1,GPR158 EXON Silent,Missense_P60T exm815273 10 25464596 [A/G] NR_027333,NM_020752 GPR158-AS1,GPR158 EXON Silent,Missense_A83T exm815280 10 25464675 [T/C] NR_027333,NM_020752 GPR158-AS1,GPR158 EXON Silent,Missense_P109L exm815295 10 25465161 [A/G] NR_027333,NM_020752 GPR158-AS1,GPR158 EXON Silent,Missense_E271G exm815297 10 25509981 [A/G] NM_020752 GPR158 EXON Synonymous_R301R exm2259572 10 25620487 [A/C] NM_020752 GPR158 Silent exm815304 10 25684912 [A/C] NM_020752 GPR158 EXON Missense_P361T exm815306 10 25684939 [T/C] NM_020752 GPR158 EXON Missense_R370W exm815310 10 25701341 [C/G] NM_020752 GPR158 EXON Missense_A425G exm815313 10 25755586 [T/C] NM_020752 GPR158 EXON Missense_R448W exm815315 10 25755619 [T/C] NM_020752 GPR158 EXON Missense_L459F exm2264383 10 25822949 [A/C] NM_020752 GPR158 Silent exm815317 10 25839939 [A/G] NM_020752 GPR158 EXON Missense_R480H exm815325 10 25861636 [T/C] NM_020752 GPR158 EXON Missense_R525W exm815331 10 25861790 [A/G] NM_020752 GPR158 EXON Missense_D576G exm1677766 10 25883307 [A/G] NM_020752 GPR158 EXON Missense_G660E exm815341 10 25885675 [A/G] NM_020752 GPR158 EXON Missense_N701S exm815347 10 25886854 [T/C] NM_020752 GPR158 EXON Missense_R767W exm815349 10 25886879 [A/G] NM_020752 GPR158 EXON Missense_E775G exm815353 10 25886933 [G/C] NM_020752 GPR158 EXON Missense_P793R exm815357 10 25887038 [C/G] NM_020752 GPR158 EXON Missense_T828R exm815359 10 25887116 [A/G] NM_020752 GPR158 EXON Missense_G854D exm815364 10 25887199 [A/G] NM_020752 GPR158 EXON Missense_A882T exm815375 10 25887446 [T/C] NM_020752 GPR158 EXON Missense_A964V exm815377 10 25887494 [C/G] NM_020752 GPR158 EXON Missense_R980T exm1677779 10 25887500 [A/G] NM_020752 GPR158 EXON Missense_N982S exm2249167 10 25887639 [T/C] NM_020752 GPR158 EXON Synonymous_H1028H exm815385 10 25887658 [A/G] NM_020752 GPR158 EXON Missense_E1035K exm815386 10 25887674 [T/C] NM_020752 GPR158 EXON Missense_P1040L exm815387 10 25887698 [A/C] NM_020752 GPR158 EXON Missense_S1048Y exm815400 10 25887967 [A/G] NM_020752 GPR158 EXON Missense_G1138R exm815402 10 25888010 [A/G] NM_020752 GPR158 EXON Missense_R1152H exm815403 10 25888013 [A/G] NM_020752 GPR158 EXON Missense_G1153D exm815405 10 25888093 [C/G] NM_020752 GPR158 EXON Missense_A1180P exm1677783 10 25888172 [A/G] NM_020752 GPR158 EXON Missense_K1206R exm815409 10 25888180 [A/G] NM_020752 GPR158 EXON Missense_I1209V exm2271265 10 25994745 [T/C] exm2217059 10 26224759 [A/G] NM_017433 MYO3A EXON Silent exm815416 10 26241152 [T/C] NM_017433 MYO3A EXON Missense_V38A exm815418 10 26241191 [A/T] NM_017433 MYO3A EXON Missense_I51N exm815421 10 26243804 [A/C] NM_017433 MYO3A EXON Missense_D57A exm815430 10 26286103 [T/C] NM_017433 MYO3A EXON Missense_H142Y exm815431 10 26286105 [T/G] NM_017433 MYO3A EXON Missense_H142Q exm815438 10 26305773 [T/C] NM_017433 MYO3A EXON Missense_T178I exm2217060 10 26310456 [A/G] NM_017433 MYO3A EXON Missense_D204N exm815459 10 26315457 [C/G] NM_017433 MYO3A EXON Missense_A317P exm815464 10 26355906 [A/G] NM_017433 MYO3A EXON Missense_R319H exm815469 10 26355992 [A/G] NM_017433 MYO3A EXON Missense_I348V exm815470 10 26356002 [A/C] NM_017433 MYO3A EXON Missense_E351A exm815477 10 26357748 [A/G] NM_017433 MYO3A EXON Missense_V369I exm815488 10 26359144 [A/G] NM_017433 MYO3A EXON Synonymous_Q425Q exm815501 10 26377297 [T/C] NM_017433 MYO3A EXON Missense_Y509H exm815503 10 26377315 [T/C] NM_017433 MYO3A EXON Nonsense_R515X exm815504 10 26377331 [T/C] NM_017433 MYO3A EXON Missense_A520V exm815508 10 26385390 [A/C] NM_017433 MYO3A EXON Missense_P548H exm815516 10 26409624 [T/G] NM_017433 MYO3A EXON Missense_S599I exm815517 10 26409656 [A/G] NM_017433 MYO3A EXON Missense_I610V exm815518 10 26409657 [T/C] NM_017433 MYO3A EXON Missense_I610T exm815536 10 26432389 [T/A] NM_017433 MYO3A EXON Missense_N759Y exm815538 10 26432467 [T/G] NM_017433 MYO3A EXON Missense_G785C exm815542 10 26434455 [T/G] NM_017433 MYO3A EXON Missense_A833S exm815543 10 26436358 [A/G] NM_017433 MYO3A Silent exm2249170 10 26436439 [T/C] NM_017433 MYO3A EXON Synonymous_S862S exm815544 10 26436439 [T/C] NM_017433 MYO3A EXON Synonymous_S862S exm815546 10 26436468 [A/G] NM_017433 MYO3A EXON Missense_N872S exm815551 10 26442848 [A/C] NM_017433 MYO3A EXON Missense_N902T exm815563 10 26446312 [A/G] NM_017433 MYO3A EXON Missense_S956N exm815575 10 26455024 [A/G] NM_017433 MYO3A EXON Missense_E1010K exm815577 10 26455033 [T/C] NM_017433 MYO3A EXON Missense_R1013C exm815581 10 26455090 [A/G] NM_017433 MYO3A EXON Missense_A1032T exm815584 10 26457719 [A/G] NM_017433 MYO3A EXON Missense_A1064T exm1677846 10 26457804 [T/G] NM_017433 MYO3A Silent exm815588 10 26459422 [A/G] NM_017433 MYO3A EXON Missense_T1118A exm815597 10 26462723 [A/G] NM_017433 MYO3A EXON Missense_N1177S exm815600 10 26462731 [A/G] NM_017433 MYO3A EXON Missense_E1180K exm2217062 10 26462777 [T/C] NM_017433 MYO3A EXON Missense_V1195A exm815603 10 26462782 [A/G] NM_017433 MYO3A EXON Missense_E1197K exm815612 10 26463043 [A/T] NM_017433 MYO3A EXON Missense_T1284S exm815613 10 26463052 [A/C] NM_017433 MYO3A EXON Missense_P1287T exm815614 10 26463073 [A/G] NM_017433 MYO3A EXON Missense_I1294V exm815615 10 26463125 [C/G] NM_017433 MYO3A EXON Missense_T1311S exm815616 10 26463130 [A/C] NM_017433 MYO3A EXON Missense_R1313S exm815617 10 26463131 [A/G] NM_017433 MYO3A EXON Missense_R1313H exm815627 10 26463403 [A/C] NM_017433 MYO3A EXON Missense_N1404H exm815628 10 26463443 [T/C] NM_017433 MYO3A EXON Missense_T1417I exm815638 10 26482146 [A/G] NM_017433 MYO3A EXON Missense_G1484E exm815640 10 26482157 [A/G] NM_017433 MYO3A EXON Missense_K1488E exm1677865 10 26482179 [A/G] NM_017433 MYO3A EXON Missense_R1495Q exm815651 10 26491895 [A/T] NM_017433 MYO3A EXON Missense_Q1530L exm815653 10 26491949 [A/G] NM_017433 MYO3A EXON Missense_R1548H exm815655 10 26491987 [T/C] NM_017433 MYO3A EXON Nonsense_R1561X exm815660 10 26500881 [T/C] NM_017433 MYO3A EXON Nonsense_Q1614X exm815663 10 26500890 [T/C] NM_017433 MYO3A EXON Missense_X1617Q exm2267086 10 26505496 [A/G] NM_001134366,NM_000818 GAD2,GAD2 EXON Silent,Silent exm1677885 10 26508057 [A/C] NM_001134366,NM_000818 GAD2,GAD2 EXON Missense_K124N,Missense_K124N exm815688 10 26508143 [A/C] NM_001134366,NM_000818 GAD2,GAD2 EXON Missense_P153Q,Missense_P153Q exm815691 10 26513468 [A/G] NM_001134366,NM_000818 GAD2,GAD2 EXON Missense_M204I,Missense_M204I exm815693 10 26513539 [T/C] NM_001134366,NM_000818 GAD2,GAD2 EXON Missense_I228T,Missense_I228T exm815694 10 26513551 [A/G] NM_001134366,NM_000818 GAD2,GAD2 EXON Missense_G232E,Missense_G232E exm815700 10 26518671 [A/G] NM_001134366,NM_000818 GAD2,GAD2 EXON Missense_A269T,Missense_A269T exm815706 10 26534890 [T/C] NM_001134366,NM_000818 GAD2,GAD2 EXON Missense_I294T,Missense_I294T exm815727 10 26575274 [A/G] NM_001134366,NM_000818 GAD2,GAD2 EXON Missense_G413R,Missense_G413R exm815728 10 26575322 [G/C] NM_001134366,NM_000818 GAD2,GAD2 EXON Missense_Q429E,Missense_Q429E exm815736 10 26581855 [T/C] NM_001134366,NM_000818 GAD2,GAD2 EXON Missense_W507R,Missense_W507R exm2217066 10 26581905 [C/G] NM_001134366,NM_000818 GAD2,GAD2 EXON Missense_M523I,Missense_M523I exm815740 10 26581916 [T/C] NM_001134366,NM_000818 GAD2,GAD2 EXON Missense_S527L,Missense_S527L exm2271266 10 26636925 [T/G] exm815770 10 26792144 [A/G] NM_019043 APBB1IP EXON Missense_A158T exm815797 10 26849088 [A/G] NM_019043 APBB1IP EXON Missense_T404A exm815804 10 26849689 [T/C] NM_019043 APBB1IP EXON Missense_R429W exm815829 10 26856281 [T/C] NM_019043 APBB1IP EXON Missense_A622V exm2271267 10 26997889 [T/C] NM_014317 PDSS1 Silent exm815853 10 26998637 [T/G] NM_014317 PDSS1 EXON Missense_F136C exm815864 10 27009268 [A/G] NM_014317 PDSS1 EXON Missense_K197E exm815868 10 27012811 [G/C] NM_014317 PDSS1 EXON Missense_S229C exm815870 10 27012844 [A/G] NM_014317 PDSS1 EXON Missense_R240H exm815871 10 27012981 [G/C] NM_014317 PDSS1 EXON Missense_E254Q exm815881 10 27031454 [A/G] NM_014317 PDSS1 EXON Missense_R352Q exm1677964 10 27035311 [A/G] NM_014317 PDSS1 EXON Missense_E386G exm815884 10 27035401 [C/G] NM_014317 PDSS1 EXON Missense_X416S exm815898 10 27044667 [A/G] NM_001012750,NM_001012751,NM_001178123,NM_001178124,NM_001178119,NM_001012752,NM_001178125,NM_001178120,NM_001178122,NM_001178121,NM_005470,NM_001178116 ABI1,ABI1,ABI1,ABI1,ABI1,ABI1,ABI1,ABI1,ABI1,ABI1,ABI1,ABI1 EXON Missense_S334F,Silent,Silent,Silent,Missense_S333F,Missense_S329F,Silent,Silent,Missense_S275F,Silent,Missense_S361F,Silent exm2249173 10 27048043 [T/C] NM_001012750,NM_001012751,NM_001178123,NM_001178124,NM_001178119,NM_001012752,NM_001178125,NM_001178120,NM_001178122,NM_001178121,NM_005470,NM_001178116 ABI1,ABI1,ABI1,ABI1,ABI1,ABI1,ABI1,ABI1,ABI1,ABI1,ABI1,ABI1 EXON Synonymous_Q315Q,Synonymous_Q315Q,Silent,Silent,Synonymous_Q314Q,Synonymous_Q310Q,Silent,Synonymous_Q314Q,Silent,Synonymous_Q309Q,Synonymous_Q342Q,Synonymous_Q359Q exm2217071 10 27048077 [C/G] NM_001012750,NM_001012751,NM_001178123,NM_001178124,NM_001178119,NM_001012752,NM_001178125,NM_001178120,NM_001178122,NM_001178121,NM_005470,NM_001178116 ABI1,ABI1,ABI1,ABI1,ABI1,ABI1,ABI1,ABI1,ABI1,ABI1,ABI1,ABI1 EXON Missense_G304A,Missense_G304A,Silent,Silent,Missense_G303A,Missense_G299A,Silent,Missense_G303A,Silent,Missense_G298A,Missense_G331A,Missense_G348A exm815908 10 27052872 [A/G] NM_001012750,NM_001012751,NM_001178123,NM_001178124,NM_001178119,NM_001012752,NM_001178125,NM_001178120,NM_001178122,NM_001178121,NM_005470,NM_001178116 ABI1,ABI1,ABI1,ABI1,ABI1,ABI1,ABI1,ABI1,ABI1,ABI1,ABI1,ABI1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_P280S,Missense_P297S exm815924 10 27059210 [A/G] NM_001012750,NM_001012751,NM_001178123,NM_001178124,NM_001178119,NM_001012752,NM_001178125,NM_001178120,NM_001178122,NM_001178121,NM_005470,NM_001178116 ABI1,ABI1,ABI1,ABI1,ABI1,ABI1,ABI1,ABI1,ABI1,ABI1,ABI1,ABI1 EXON Missense_P181L,Missense_P181L,Missense_P181L,Missense_P176L,Missense_P181L,Missense_P176L,Missense_P117L,Missense_P181L,Missense_P181L,Missense_P176L,Missense_P181L,Missense_P198L exm815933 10 27066073 [A/G] NM_001012750,NM_001012751,NM_001178123,NM_001178124,NM_001178119,NM_001012752,NM_001178125,NM_001178120,NM_001178122,NM_001178121,NM_005470,NM_001178116 ABI1,ABI1,ABI1,ABI1,ABI1,ABI1,ABI1,ABI1,ABI1,ABI1,ABI1,ABI1 EXON Missense_A128V,Missense_A128V,Missense_A128V,Missense_A128V,Missense_A128V,Missense_A128V,Silent,Missense_A128V,Missense_A128V,Missense_A128V,Missense_A128V,Missense_A145V exm2271386 10 27200881 [T/C] exm815953 10 27301840 [T/C] NM_014915,NM_001256053 ANKRD26,ANKRD26 EXON Missense_N1642D,Missense_N1641D exm815954 10 27301848 [T/C] NM_014915,NM_001256053 ANKRD26,ANKRD26 EXON Missense_R1639Q,Missense_R1638Q exm2217072 10 27302028 [T/C] NM_014915,NM_001256053 ANKRD26,ANKRD26 EXON Missense_R1579K,Missense_R1578K exm815968 10 27303605 [T/A] NM_014915,NM_001256053 ANKRD26,ANKRD26 EXON Missense_F1514L,Missense_F1513L exm1677999 10 27306447 [A/T] NM_014915,NM_001256053 ANKRD26,ANKRD26 EXON Missense_V1497D,Missense_V1496D exm815970 10 27306492 [A/G] NM_014915,NM_001256053 ANKRD26,ANKRD26 EXON Missense_I1482T,Missense_I1481T exm815977 10 27306678 [T/C] NM_014915,NM_001256053 ANKRD26,ANKRD26 EXON Missense_C1420Y,Missense_C1419Y exm815981 10 27311557 [T/A] NM_014915,NM_001256053 ANKRD26,ANKRD26 EXON Missense_F1382Y,Missense_F1381Y exm815990 10 27317840 [T/C] NM_014915,NM_001256053 ANKRD26,ANKRD26 EXON Missense_V1305I,Missense_V1304I exm815999 10 27322303 [C/G] NM_014915,NM_001256053 ANKRD26,ANKRD26 EXON Missense_V1220L,Missense_V1219L exm1678012 10 27324020 [A/T] NM_014915,NM_001256053 ANKRD26,ANKRD26 EXON Missense_V1120D,Missense_V1119D exm816014 10 27324372 [T/C] NM_014915,NM_001256053 ANKRD26,ANKRD26 EXON Missense_E1003K,Missense_E1002K exm816015 10 27324401 [T/G] NM_014915,NM_001256053 ANKRD26,ANKRD26 EXON Missense_E993A,Missense_E992A exm816029 10 27326228 [C/G] NM_014915,NM_001256053 ANKRD26,ANKRD26 EXON Missense_Q862E,Missense_Q861E exm816041 10 27328937 [G/C] NM_014915,NM_001256053 ANKRD26,ANKRD26 EXON Missense_E778Q,Missense_E777Q exm816045 10 27329059 [A/C] NM_014915,NM_001256053 ANKRD26,ANKRD26 EXON Missense_R737I,Missense_R736I exm816046 10 27329099 [T/G] NM_014915,NM_001256053 ANKRD26,ANKRD26 EXON Missense_S724R,Missense_S723R exm816051 10 27332445 [A/G] NM_014915,NM_001256053 ANKRD26,ANKRD26 EXON Missense_S691P,Missense_S690P exm816061 10 27335399 [T/C] NM_014915,NM_001256053 ANKRD26,ANKRD26 EXON Missense_R623Q,Missense_R622Q exm816067 10 27337797 [G/C] NM_014915,NM_001256053 ANKRD26,ANKRD26 EXON Missense_Q583E,Missense_Q583E exm816085 10 27350084 [A/G] NM_014915,NM_001256053 ANKRD26,ANKRD26 EXON Missense_V484A,Missense_V484A exm816088 10 27352918 [T/G] NM_014915,NM_001256053 ANKRD26,ANKRD26 EXON Missense_E454D,Missense_E454D exm816094 10 27353007 [T/C] NM_014915,NM_001256053 ANKRD26,ANKRD26 EXON Missense_I425V,Missense_I425V exm816104 10 27356160 [T/C] NM_014915,NM_001256053 ANKRD26,ANKRD26 EXON Missense_E378G,Missense_E378G exm816110 10 27366407 [A/C] NM_014915,NM_001256053 ANKRD26,ANKRD26 EXON Missense_D313Y,Missense_D313Y exm816118 10 27368038 [T/C] NM_014915,NM_001256053 ANKRD26,ANKRD26 EXON Missense_D265N,Missense_D265N exm816124 10 27375498 [A/G] NM_014915,NM_001256053 ANKRD26,ANKRD26 EXON Missense_P227S,Missense_P227S exm816130 10 27381374 [T/C] NM_014915,NM_001256053 ANKRD26,ANKRD26 EXON Missense_K200R,Missense_K200R exm816133 10 27381431 [A/G] NM_014915,NM_001256053 ANKRD26,ANKRD26 EXON Missense_T181I,Missense_T181I exm816140 10 27382288 [C/G] NM_014915,NM_001256053 ANKRD26,ANKRD26 EXON Missense_A174G,Missense_A174G exm816145 10 27382438 [A/T] NM_014915,NM_001256053 ANKRD26,ANKRD26 EXON Missense_Q124L,Missense_Q124L exm816149 10 27382639 [T/C] NM_014915,NM_001256053 ANKRD26,ANKRD26 EXON Missense_N111S,Missense_N111S exm816160 10 27389114 [G/C] NM_014915,NM_001256053 ANKRD26,ANKRD26 EXON Missense_G48R,Missense_G48R exm816168 10 27389151 [G/C] NM_014915,NM_001256053 ANKRD26,ANKRD26 EXON Nonsense_Y35X,Nonsense_Y35X exm1678077 10 27389164 [C/G] NM_014915,NM_001256053 ANKRD26,ANKRD26 EXON Missense_G31A,Missense_G31A exm816172 10 27389197 [T/C] NM_014915,NM_001256053 ANKRD26,ANKRD26 EXON Missense_Q20R,Missense_Q20R exm816173 10 27389216 [T/C] NM_014915,NM_001256053 ANKRD26,ANKRD26 EXON Missense_G14S,Missense_G14S exm816175 10 27389253 [T/C] NM_014915,NM_001256053 ANKRD26,ANKRD26 EXON Missense_M1I,Missense_M1I exm2217077 10 27406513 [C/G] NM_001253866,NM_014263,NM_139312 YME1L1,YME1L1,YME1L1 EXON Missense_L538V,Missense_L571V,Missense_L628V exm816203 10 27409384 [T/C] NM_001253866,NM_014263,NM_139312 YME1L1,YME1L1,YME1L1 EXON Missense_N431S,Missense_N464S,Missense_N521S exm816230 10 27423838 [T/C] NM_001253866,NM_014263,NM_139312 YME1L1,YME1L1,YME1L1 EXON Missense_E172K,Missense_E205K,Missense_E262K exm816237 10 27425308 [A/G] NM_001253866,NM_014263,NM_139312 YME1L1,YME1L1,YME1L1 EXON Missense_I113T,Missense_I146T,Missense_I203T exm1678111 10 27434380 [A/T] NM_001253866,NM_014263,NM_139312 YME1L1,YME1L1,YME1L1 EXON Missense_Q103L,Missense_Q103L,Missense_Q160L exm-IND10-27476467 10 27436462 [D/I] NM_001253866,NM_014263,NM_139312 YME1L1,YME1L1,YME1L1 EXON exm816258 10 27436566 [T/C] NM_001253866,NM_014263,NM_139312 YME1L1,YME1L1,YME1L1 EXON Silent,Silent,Missense_N67S exm816264 10 27437914 [G/C] NM_001253866,NM_014263,NM_139312 YME1L1,YME1L1,YME1L1 EXON Missense_S30C,Missense_S30C,Missense_S30C exm816287 10 27444425 [A/G] NM_001172303,NM_032844,NM_001172304 MASTL,MASTL,MASTL EXON Missense_I24V,Missense_I24V,Missense_I24V exm816301 10 27450036 [A/G] NM_001172303,NM_032844,NM_001172304 MASTL,MASTL,MASTL EXON Missense_D160N,Missense_D160N,Missense_D160N exm816306 10 27454316 [A/G] NM_001172303,NM_032844,NM_001172304 MASTL,MASTL,MASTL Silent,Silent,Silent exm816319 10 27456053 [C/G] NM_001172303,NM_032844,NM_001172304 MASTL,MASTL,MASTL EXON Missense_N278K,Missense_N278K,Missense_N278K exm816320 10 27456090 [T/C] NM_001172303,NM_032844,NM_001172304 MASTL,MASTL,MASTL EXON Missense_L291F,Missense_L291F,Missense_L291F exm816324 10 27456155 [T/G] NM_001172303,NM_032844,NM_001172304 MASTL,MASTL,MASTL EXON Missense_S312R,Missense_S312R,Missense_S312R exm816325 10 27458898 [A/C] NM_001172303,NM_032844,NM_001172304 MASTL,MASTL,MASTL EXON Missense_T337K,Missense_T337K,Missense_T337K exm816326 10 27458904 [A/T] NM_001172303,NM_032844,NM_001172304 MASTL,MASTL,MASTL EXON Missense_M339K,Missense_M339K,Missense_M339K exm816327 10 27458933 [A/G] NM_001172303,NM_032844,NM_001172304 MASTL,MASTL,MASTL EXON Missense_A349T,Missense_A349T,Missense_A349T exm1678131 10 27459035 [T/C] NM_001172303,NM_032844,NM_001172304 MASTL,MASTL,MASTL EXON Missense_R383C,Missense_R383C,Missense_R383C exm816332 10 27459074 [G/C] NM_001172303,NM_032844,NM_001172304 MASTL,MASTL,MASTL EXON Missense_E396Q,Missense_E396Q,Missense_E396Q exm816335 10 27459243 [A/C] NM_001172303,NM_032844,NM_001172304 MASTL,MASTL,MASTL EXON Missense_S452Y,Missense_S452Y,Missense_S452Y exm816339 10 27459302 [A/G] NM_001172303,NM_032844,NM_001172304 MASTL,MASTL,MASTL EXON Missense_E472K,Missense_E472K,Missense_E472K exm816340 10 27459303 [A/G] NM_001172303,NM_032844,NM_001172304 MASTL,MASTL,MASTL EXON Missense_E472G,Missense_E472G,Missense_E472G exm2217081 10 27459416 [A/G] NM_001172303,NM_032844,NM_001172304 MASTL,MASTL,MASTL EXON Missense_V510I,Missense_V510I,Missense_V510I exm816347 10 27459624 [T/C] NM_001172303,NM_032844,NM_001172304 MASTL,MASTL,MASTL EXON Missense_M579T,Missense_M579T,Missense_M579T exm816351 10 27459704 [T/G] NM_001172303,NM_032844,NM_001172304 MASTL,MASTL,MASTL EXON Missense_D606Y,Missense_D606Y,Missense_D606Y exm816352 10 27459716 [A/G] NM_001172303,NM_032844,NM_001172304 MASTL,MASTL,MASTL EXON Missense_V610I,Missense_V610I,Missense_V610I exm816354 10 27459746 [C/G] NM_001172303,NM_032844,NM_001172304 MASTL,MASTL,MASTL EXON Missense_P620A,Missense_P620A,Missense_P620A exm816362 10 27459948 [A/G] NM_001172303,NM_032844,NM_001172304 MASTL,MASTL,MASTL EXON Missense_Y687C,Missense_Y687C,Missense_Y687C exm816364 10 27460008 [T/A] NM_001172303,NM_032844,NM_001172304 MASTL,MASTL,MASTL EXON Missense_H707L,Missense_H707L,Missense_H707L exm816381 10 27475317 [A/G] NM_001172303,NM_032844,NM_001172304 MASTL,MASTL,MASTL EXON Missense_R831H,Missense_R830H,Missense_R792H exm816383 10 27475445 [A/G] NM_001172303,NM_032844,NM_001172304 MASTL,MASTL,MASTL EXON Missense_V874I,Missense_V873I,Missense_V835I exm816390 10 27493435 [A/G] NR_073197,NM_145698,NR_024150,NM_001271512,NM_001042473,NR_073196,NR_073195 ACBD5,ACBD5,ACBD5,ACBD5,ACBD5,ACBD5,ACBD5 EXON Silent,Missense_T500M,Silent,Missense_T498M,Missense_T465M,Silent,Silent exm816396 10 27494147 [A/C] NR_073197,NM_145698,NR_024150,NM_001271512,NM_001042473,NR_073196,NR_073195 ACBD5,ACBD5,ACBD5,ACBD5,ACBD5,ACBD5,ACBD5 EXON Silent,Missense_A479S,Silent,Missense_A477S,Missense_A444S,Silent,Silent exm816399 10 27497191 [A/G] NR_073197,NM_145698,NR_024150,NM_001271512,NM_001042473,NR_073196,NR_073195 ACBD5,ACBD5,ACBD5,ACBD5,ACBD5,ACBD5,ACBD5 EXON Silent,Missense_T463M,Silent,Missense_T461M,Missense_T428M,Silent,Silent exm816409 10 27497345 [T/G] NR_073197,NM_145698,NR_024150,NM_001271512,NM_001042473,NR_073196,NR_073195 ACBD5,ACBD5,ACBD5,ACBD5,ACBD5,ACBD5,ACBD5 EXON Silent,Missense_T412P,Silent,Missense_T410P,Missense_T377P,Silent,Silent exm2217084 10 27499769 [T/C] NR_073197,NM_145698,NR_024150,NM_001271512,NM_001042473,NR_073196,NR_073195 ACBD5,ACBD5,ACBD5,ACBD5,ACBD5,ACBD5,ACBD5 EXON Silent,Missense_E393G,Silent,Missense_E391G,Missense_E358G,Silent,Silent exm816416 10 27499797 [A/G] NR_073197,NM_145698,NR_024150,NM_001271512,NM_001042473,NR_073196,NR_073195 ACBD5,ACBD5,ACBD5,ACBD5,ACBD5,ACBD5,ACBD5 EXON Silent,Missense_R384W,Silent,Missense_R382W,Missense_R349W,Silent,Silent exm816418 10 27499809 [T/C] NR_073197,NM_145698,NR_024150,NM_001271512,NM_001042473,NR_073196,NR_073195 ACBD5,ACBD5,ACBD5,ACBD5,ACBD5,ACBD5,ACBD5 EXON Silent,Missense_G380R,Silent,Missense_G378R,Missense_G345R,Silent,Silent exm816423 10 27499917 [T/C] NR_073197,NM_145698,NR_024150,NM_001271512,NM_001042473,NR_073196,NR_073195 ACBD5,ACBD5,ACBD5,ACBD5,ACBD5,ACBD5,ACBD5 EXON Silent,Missense_D344N,Silent,Missense_D342N,Missense_D309N,Silent,Silent exm816425 10 27499979 [T/G] NR_073197,NM_145698,NR_024150,NM_001271512,NM_001042473,NR_073196,NR_073195 ACBD5,ACBD5,ACBD5,ACBD5,ACBD5,ACBD5,ACBD5 EXON Silent,Missense_P323Q,Silent,Missense_P321Q,Missense_P288Q,Silent,Silent exm1678168 10 27508709 [T/C] NR_073197,NM_145698,NR_024150,NM_001271512,NM_001042473,NR_073196,NR_073195 ACBD5,ACBD5,ACBD5,ACBD5,ACBD5,ACBD5,ACBD5 EXON Silent,Missense_E190K,Silent,Missense_E188K,Missense_E155K,Silent,Silent exm1678169 10 27508754 [T/C] NR_073197,NM_145698,NR_024150,NM_001271512,NM_001042473,NR_073196,NR_073195 ACBD5,ACBD5,ACBD5,ACBD5,ACBD5,ACBD5,ACBD5 EXON Silent,Missense_A175T,Silent,Missense_A173T,Missense_A140T,Silent,Silent exm1678172 10 27512335 [T/C] NR_073197,NM_145698,NR_024150,NM_001271512,NM_001042473,NR_073196,NR_073195 ACBD5,ACBD5,ACBD5,ACBD5,ACBD5,ACBD5,ACBD5 EXON Silent,Missense_R141H,Silent,Missense_R139H,Missense_R106H,Silent,Silent exm816451 10 27524061 [A/G] NR_073197,NM_145698,NR_024150,NM_001271512,NM_001042473,NR_073196,NR_073195 ACBD5,ACBD5,ACBD5,ACBD5,ACBD5,ACBD5,ACBD5 EXON Silent,Missense_S88P,Silent,Missense_S86P,Missense_S53P,Silent,Silent exm816453 10 27529313 [A/G] NR_073197,NM_145698,NR_024150,NM_001271512,NM_001042473,NR_073196,NR_073195 ACBD5,ACBD5,ACBD5,ACBD5,ACBD5,ACBD5,ACBD5 EXON Silent,Missense_T39M,Silent,Missense_T37M,Missense_T4M,Silent,Silent exm816456 10 27529341 [A/G] NR_073197,NM_145698,NR_024150,NM_001271512,NM_001042473,NR_073196,NR_073195 ACBD5,ACBD5,ACBD5,ACBD5,ACBD5,ACBD5,ACBD5 EXON Silent,Nonsense_Q30X,Silent,Nonsense_Q28X,Silent,Silent,Silent exm2264384 10 27679816 [A/C] exm816522 10 27687225 [A/G] NM_001034842 PTCHD3 EXON Missense_X768Q exm816524 10 27687284 [T/C] NM_001034842 PTCHD3 EXON Missense_R748Q exm1678177 10 27687285 [A/G] NM_001034842 PTCHD3 EXON Missense_R748W exm816528 10 27687437 [A/C] NM_001034842 PTCHD3 EXON Missense_W697L exm-IND10-27727540 10 27687535 [I/D] NM_001034842 PTCHD3 EXON exm816540 10 27687638 [T/C] NM_001034842 PTCHD3 EXON Missense_R630Q exm816541 10 27687686 [A/G] NM_001034842 PTCHD3 EXON Missense_I614T exm816544 10 27687775 [T/C] NM_001034842 PTCHD3 EXON Missense_I584M exm816547 10 27687843 [A/G] NM_001034842 PTCHD3 EXON Missense_F562L exm816552 10 27687965 [A/G] NM_001034842 PTCHD3 EXON Missense_M521T exm816554 10 27687989 [T/G] NM_001034842 PTCHD3 EXON Missense_Q513P exm816564 10 27688095 [A/G] NM_001034842 PTCHD3 EXON Missense_R478W exm816566 10 27688101 [A/G] NM_001034842 PTCHD3 EXON Nonsense_R476X exm816567 10 27688109 [T/C] NM_001034842 PTCHD3 EXON Missense_D473G exm816576 10 27692279 [A/C] NM_001034842 PTCHD3 EXON Missense_C407G exm816583 10 27700857 [A/C] NM_001034842 PTCHD3 EXON Missense_V364G exm816589 10 27702174 [T/C] NM_001034842 PTCHD3 EXON Missense_D336N exm1678186 10 27702263 [A/G] NM_001034842 PTCHD3 EXON Missense_L306S exm816596 10 27702282 [A/C] NM_001034842 PTCHD3 EXON Missense_F300V exm816598 10 27702323 [A/G] NM_001034842 PTCHD3 EXON Missense_P286L exm816606 10 27702438 [A/G] NM_001034842 PTCHD3 EXON Nonsense_Q248X exm816608 10 27702461 [T/C] NM_001034842 PTCHD3 EXON Missense_R240H exm816609 10 27702476 [A/G] NM_001034842 PTCHD3 EXON Missense_A235V exm816611 10 27702509 [C/G] NM_001034842 PTCHD3 EXON Missense_A224G exm816612 10 27702510 [T/C] NM_001034842 PTCHD3 EXON Missense_A224T exm816615 10 27702567 [T/C] NM_001034842 PTCHD3 EXON Missense_E205K exm816616 10 27702624 [T/G] NM_001034842 PTCHD3 EXON Missense_Q186K exm816626 10 27702725 [A/G] NM_001034842 PTCHD3 EXON Missense_L152P exm816631 10 27702786 [A/C] NM_001034842 PTCHD3 EXON Missense_W132G exm816635 10 27702876 [A/G] NM_001034842 PTCHD3 EXON Missense_P102S exm816646 10 27703017 [T/C] NM_001034842 PTCHD3 EXON Missense_E55K exm816696 10 27798805 [T/C] NM_001256415,NR_046172,NM_001256412,NM_001256411,NM_021252,NM_001256410 RAB18,RAB18,RAB18,RAB18,RAB18,RAB18 EXON Synonymous_L24L,Silent,Synonymous_L24L,Synonymous_L24L,Synonymous_L24L,Synonymous_L24L exm816698 10 27815780 [A/G] NM_001256415,NR_046172,NM_001256412,NM_001256411,NM_021252,NM_001256410 RAB18,RAB18,RAB18,RAB18,RAB18,RAB18 EXON Silent,Silent,Missense_I50V,Missense_I50V,Missense_I50V,Missense_I50V exm816709 10 27826951 [A/G] NM_001256415,NR_046172,NM_001256412,NM_001256411,NM_021252,NM_001256410 RAB18,RAB18,RAB18,RAB18,RAB18,RAB18 EXON Missense_A174T,Silent,Missense_A134T,Synonymous_E175E,Missense_A198T,Missense_A227T exm1678211 10 27964273 [T/G] NM_173576,NM_001242702 MKX,MKX EXON Missense_T315K,Missense_T315K exm816716 10 27964291 [T/C] NM_173576,NM_001242702 MKX,MKX EXON Missense_N309S,Missense_N309S exm2271387 10 27975180 [T/C] NM_173576,NM_001242702 MKX,MKX Silent,Silent exm816734 10 28023582 [C/G] NM_173576,NM_001242702 MKX,MKX EXON Missense_A214G,Missense_A214G exm816741 10 28023688 [T/C] NM_173576,NM_001242702 MKX,MKX EXON Missense_E179K,Missense_E179K exm816747 10 28024177 [T/C] NM_173576,NM_001242702 MKX,MKX EXON Missense_V159I,Missense_V159I exm1678226 10 28032204 [T/G] NM_173576,NM_001242702 MKX,MKX EXON Missense_D47E,Missense_D47E exm816773 10 28101455 [A/C] NM_018076 ARMC4 EXON Missense_A1041S exm816775 10 28101490 [A/G] NM_018076 ARMC4 EXON Missense_S1029F exm816782 10 28149592 [T/C] NM_018076 ARMC4 EXON Missense_D995N exm2249176 10 28149593 [A/G] NM_018076 ARMC4 EXON Synonymous_A994A exm816783 10 28149593 [A/G] NM_018076 ARMC4 EXON Synonymous_A994A exm1678235 10 28149633 [A/C] NM_018076 ARMC4 EXON Missense_R981L exm816790 10 28149640 [T/C] NM_018076 ARMC4 EXON Missense_V979M exm816792 10 28149642 [T/C] NM_018076 ARMC4 EXON Missense_N978S exm816795 10 28149696 [T/C] NM_018076 ARMC4 EXON Missense_G960D exm816798 10 28149770 [T/G] NM_018076 ARMC4 EXON Missense_N935K exm816807 10 28196630 [T/C] NM_018076 ARMC4 EXON Missense_A858T exm816814 10 28224075 [A/G] NM_018076 ARMC4 EXON Missense_R787C exm816816 10 28224092 [A/C] NM_018076 ARMC4 EXON Missense_G781V exm1678248 10 28224128 [T/G] NM_018076 ARMC4 EXON Missense_P769H exm816820 10 28224150 [C/G] NM_018076 ARMC4 EXON Missense_V762L exm816821 10 28224162 [T/C] NM_018076 ARMC4 EXON Missense_I758V exm816831 10 28225787 [T/C] NM_018076 ARMC4 EXON Missense_R707Q exm816832 10 28225788 [A/G] NM_018076 ARMC4 EXON Missense_R707W exm816835 10 28228825 [A/C] NM_018076 ARMC4 Silent exm2249177 10 28228865 [A/G] NM_018076 ARMC4 EXON Synonymous_N686N exm816839 10 28228926 [T/C] NM_018076 ARMC4 EXON Missense_R666Q exm816843 10 28229592 [T/C] NM_018076 ARMC4 EXON Missense_R629H exm816852 10 28233185 [T/C] NM_018076 ARMC4 EXON Missense_R570Q exm816858 10 28233240 [T/G] NM_018076 ARMC4 EXON Missense_K552Q exm816864 10 28233794 [T/C] NM_018076 ARMC4 EXON Missense_G495D exm816894 10 28260184 [T/C] NM_018076 ARMC4 EXON Missense_K332R exm816897 10 28270393 [A/G] NM_018076 ARMC4 Silent exm816910 10 28273183 [A/T] NM_018076 ARMC4 EXON Missense_D204E exm816911 10 28273212 [T/A] NM_018076 ARMC4 EXON Missense_S195C exm816912 10 28273221 [T/A] NM_018076 ARMC4 Silent exm816926 10 28283867 [G/C] NM_018076 ARMC4 EXON Missense_E69Q exm2271268 10 28294586 [T/G] exm816939 10 28343067 [T/C] NM_173496 MPP7 EXON Missense_N553S exm816952 10 28348585 [T/C] NM_173496 MPP7 EXON Missense_N431S exm816959 10 28358749 [A/G] NM_173496 MPP7 EXON Nonsense_R386X exm816963 10 28378641 [T/C] NM_173496 MPP7 EXON Missense_R361Q exm816964 10 28378647 [A/G] NM_173496 MPP7 EXON Missense_P359L exm816971 10 28378749 [T/C] NM_173496 MPP7 EXON Missense_R325H exm816972 10 28378758 [T/C] NM_173496 MPP7 EXON Missense_K322R exm-rs927675 10 28382933 [A/C] NM_173496 MPP7 Silent exm-rs4749305 10 28391596 [A/G] NM_173496 MPP7 Silent exm1678310 10 28408616 [A/G] NM_173496 MPP7 EXON Synonymous_L306L exm816983 10 28409298 [T/C] NM_173496 MPP7 EXON Missense_D238N exm816987 10 28409566 [A/G] NM_173496 MPP7 EXON Missense_I216T exm816993 10 28412983 [C/G] NM_173496 MPP7 EXON Missense_P198A exm817005 10 28420620 [T/C] NM_173496 MPP7 EXON Missense_A106T exm817010 10 28436472 [T/G] NM_173496 MPP7 EXON Missense_N85K exm817018 10 28438930 [A/G] NM_173496 MPP7 EXON Missense_A72V exm817019 10 28438937 [A/G] NM_173496 MPP7 EXON Missense_H70Y exm817020 10 28438951 [A/G] NM_173496 MPP7 EXON Missense_P65L exm817025 10 28527518 [T/C] NM_173496 MPP7 EXON Missense_T6A exm817047 10 28824560 [A/G] NR_024557,NM_016628,NM_100486 WAC,WAC,WAC EXON Silent,Missense_G50R,Missense_G50R exm817057 10 28872337 [A/G] NR_024557,NM_016628,NM_100486 WAC,WAC,WAC EXON Silent,Missense_Y95C,Missense_Y95C exm817060 10 28872390 [T/C] NR_024557,NM_016628,NM_100486 WAC,WAC,WAC EXON Silent,Missense_H113Y,Missense_H113Y exm817069 10 28897120 [A/G] NR_024557,NM_016628,NM_100486 WAC,WAC,WAC EXON Silent,Missense_T309A,Missense_T206A exm817086 10 28900805 [T/C] NR_024557,NM_016628,NM_100486 WAC,WAC,WAC EXON Silent,Missense_P464L,Missense_P361L exm2217097 10 28900846 [A/C] NR_024557,NM_016628,NM_100486 WAC,WAC,WAC EXON Silent,Missense_P478T,Missense_P375T exm817099 10 28905145 [A/G] NR_024557,NM_016628,NM_100486 WAC,WAC,WAC EXON Silent,Missense_S534G,Missense_S431G exm817100 10 28905169 [A/G] NR_024557,NM_016628,NM_100486 WAC,WAC,WAC EXON Silent,Missense_V542I,Missense_V439I exm817101 10 28905182 [A/G] NR_024557,NM_016628,NM_100486 WAC,WAC,WAC EXON Silent,Missense_N546S,Missense_N443S exm817155 10 28970283 [G/C] NM_012342 BAMBI EXON Missense_P58R exm2217098 10 28970337 [T/C] NM_012342 BAMBI EXON Missense_T76M exm817157 10 28970340 [A/C] NM_012342 BAMBI EXON Missense_T77K exm817160 10 28970433 [C/G] NM_012342 BAMBI EXON Missense_G108A exm817162 10 28970473 [A/C] NM_012342 BAMBI EXON Synonymous_S121S exm2275240 10 28970912 [A/G] NM_012342 BAMBI EXON Missense_G122E exm817173 10 28971057 [T/G] NM_012342 BAMBI EXON Missense_M170I exm817175 10 28971101 [A/G] NM_012342 BAMBI EXON Missense_D185G exm817184 10 28971221 [C/G] NM_012342 BAMBI EXON Missense_C225S exm2271269 10 29031485 [T/G] exm2259576 10 29173102 [A/G] exm-rs11007350 10 29289031 [T/C] exm2266974 10 29434036 [A/G] exm2259577 10 29550249 [A/G] exm2217099 10 29580933 [A/C] NM_032517 LYZL1 EXON Missense_N92T exm817259 10 29599111 [A/G] NM_032517 LYZL1 EXON Missense_N170S exm817276 10 29747261 [A/G] NM_021738,NM_003174 SVIL,SVIL EXON Missense_F2187S,Missense_F1761S exm817293 10 29752459 [T/C] NM_021738,NM_003174 SVIL,SVIL EXON Missense_R2080Q,Missense_R1654Q exm817295 10 29752463 [T/C] NM_021738,NM_003174 SVIL,SVIL EXON Missense_D2079N,Missense_D1653N exm817298 10 29752498 [T/G] NM_021738,NM_003174 SVIL,SVIL EXON Missense_K2067T,Missense_K1641T exm817325 10 29759334 [T/C] NM_021738,NM_003174 SVIL,SVIL EXON Missense_S1905N,Missense_S1479N exm817338 10 29762784 [T/C] NM_021738,NM_003174 SVIL,SVIL EXON Missense_E1838K,Missense_E1412K exm817343 10 29762829 [T/C] NM_021738,NM_003174 SVIL,SVIL EXON Missense_V1823M,Missense_V1397M exm817345 10 29762877 [T/C] NM_021738,NM_003174 SVIL,SVIL EXON Missense_G1807S,Missense_G1381S exm817346 10 29762889 [T/C] NM_021738,NM_003174 SVIL,SVIL EXON Missense_V1803M,Missense_V1377M exm817360 10 29769703 [A/G] NM_021738,NM_003174 SVIL,SVIL EXON Missense_R1714W,Missense_R1288W exm817361 10 29769705 [A/G] NM_021738,NM_003174 SVIL,SVIL EXON Missense_T1713I,Missense_T1287I exm817367 10 29770536 [A/G] NM_021738,NM_003174 SVIL,SVIL EXON Missense_P1693S,Missense_P1267S exm817369 10 29770551 [A/G] NM_021738,NM_003174 SVIL,SVIL EXON Missense_S1688P,Missense_S1262P exm817377 10 29773593 [A/G] NM_021738,NM_003174 SVIL,SVIL EXON Synonymous_L1649L,Synonymous_L1223L exm817378 10 29773597 [A/G] NM_021738,NM_003174 SVIL,SVIL EXON Missense_P1648L,Missense_P1222L exm817424 10 29777673 [A/G] NM_021738,NM_003174 SVIL,SVIL EXON Missense_S1402F,Missense_S976F exm817438 10 29782225 [A/G] NM_021738,NM_003174 SVIL,SVIL EXON Missense_R1313C,Missense_R887C exm817447 10 29783896 [G/C] NM_021738,NM_003174 SVIL,SVIL EXON Missense_S1263W,Missense_S837W exm817456 10 29784026 [A/G] NM_021738,NM_003174 SVIL,SVIL EXON Missense_L1250P,Missense_L824P exm817487 10 29811564 [A/G] NM_021738,NM_003174 SVIL,SVIL EXON Missense_A1055V,Missense_A629V exm817488 10 29812422 [A/C] NM_021738,NM_003174 SVIL,SVIL EXON Missense_V1041L,Missense_V615L exm817493 10 29812509 [T/C] NM_021738,NM_003174 SVIL,SVIL EXON Missense_G1012R,Missense_G586R exm817494 10 29812511 [A/C] NM_021738,NM_003174 SVIL,SVIL EXON Missense_L1011R,Missense_L585R exm2217101 10 29812535 [T/C] NM_021738,NM_003174 SVIL,SVIL EXON Missense_R1003Q,Missense_R577Q exm817510 10 29812740 [T/C] NM_021738,NM_003174 SVIL,SVIL EXON Missense_V935I,Missense_V509I exm817513 10 29812769 [A/G] NM_021738,NM_003174 SVIL,SVIL EXON Missense_I925T,Missense_I499T exm817519 10 29812889 [A/G] NM_021738,NM_003174 SVIL,SVIL EXON Missense_T885M,Missense_T459M exm817522 10 29812928 [A/G] NM_021738,NM_003174 SVIL,SVIL EXON Missense_S872L,Missense_S446L exm817529 10 29813466 [T/C] NM_021738,NM_003174 SVIL,SVIL EXON Missense_T841A,Missense_T415A exm817530 10 29813481 [A/G] NM_021738,NM_003174 SVIL,SVIL EXON Missense_R836W,Missense_R410W exm817534 10 29813579 [A/G] NM_021738,NM_003174 SVIL,SVIL EXON Missense_A803V,Missense_A377V exm817547 10 29818659 [T/G] NM_021738,NM_003174 SVIL,SVIL EXON Missense_T741P,Missense_T347P exm817559 10 29820197 [A/G] NM_021738,NM_003174 SVIL,SVIL EXON Missense_T677M,Missense_T283M exm817562 10 29820937 [A/G] NM_021738,NM_003174 SVIL,SVIL EXON Missense_S668L,Silent exm817568 10 29821019 [A/G] NM_021738,NM_003174 SVIL,SVIL EXON Missense_R641C,Silent exm817569 10 29821030 [T/C] NM_021738,NM_003174 SVIL,SVIL EXON Missense_R637Q,Silent exm1678520 10 29821560 [T/G] NM_021738,NM_003174 SVIL,SVIL EXON Missense_E579A,Silent exm817590 10 29821665 [T/C] NM_021738,NM_003174 SVIL,SVIL EXON Missense_R544H,Silent exm817593 10 29821683 [A/G] NM_021738,NM_003174 SVIL,SVIL EXON Missense_S538L,Silent exm1678522 10 29821714 [A/C] NM_021738,NM_003174 SVIL,SVIL EXON Missense_A528S,Silent exm817596 10 29821756 [T/C] NM_021738,NM_003174 SVIL,SVIL EXON Missense_E514K,Silent exm817598 10 29821758 [T/C] NM_021738,NM_003174 SVIL,SVIL EXON Missense_S513N,Silent exm817601 10 29821788 [A/G] NM_021738,NM_003174 SVIL,SVIL EXON Missense_P503L,Silent exm1678523 10 29821801 [A/G] NM_021738,NM_003174 SVIL,SVIL EXON Missense_P499S,Silent exm817610 10 29822026 [T/C] NM_021738,NM_003174 SVIL,SVIL EXON Missense_E424K,Silent exm817612 10 29822032 [T/C] NM_021738,NM_003174 SVIL,SVIL EXON Missense_V422I,Silent exm817614 10 29822056 [T/C] NM_021738,NM_003174 SVIL,SVIL EXON Missense_G414R,Silent exm817622 10 29822167 [T/C] NM_021738,NM_003174 SVIL,SVIL EXON Missense_A377T,Silent exm817632 10 29822358 [T/C] NM_021738,NM_003174 SVIL,SVIL EXON Missense_E313G,Silent exm2249184 10 29839597 [A/G] NM_021738,NM_003174 SVIL,SVIL EXON Synonymous_S252S,Synonymous_S252S exm817656 10 29839710 [A/G] NM_021738,NM_003174 SVIL,SVIL EXON Missense_R215W,Missense_R215W exm817657 10 29839717 [T/A] NM_021738,NM_003174 SVIL,SVIL EXON Missense_S212R,Missense_S212R exm2249185 10 29839780 [A/G] NM_021738,NM_003174 SVIL,SVIL EXON Synonymous_D191D,Synonymous_D191D exm817659 10 29839787 [A/G] NM_021738,NM_003174 SVIL,SVIL EXON Missense_V189A,Missense_V189A exm1678547 10 29843981 [T/G] NM_021738,NM_003174 SVIL,SVIL EXON Synonymous_R3R,Synonymous_R3R exm-rs1927457 10 30008663 [T/C] NM_003174 SVIL Silent exm-rs2986971 10 30096628 [A/G] exm2249186 10 30164762 [T/C] exm2274397 10 30315041 [T/A] NM_020848 KIAA1462 EXON Missense_W1346R exm817706 10 30315181 [A/G] NM_020848 KIAA1462 EXON Missense_P1299L exm817707 10 30315192 [G/C] NM_020848 KIAA1462 EXON Missense_Q1295H exm817709 10 30315205 [A/G] NM_020848 KIAA1462 EXON Missense_T1291I exm817713 10 30315239 [T/C] NM_020848 KIAA1462 EXON Missense_D1280N exm817719 10 30315358 [A/G] NM_020848 KIAA1462 EXON Missense_I1240T exm817721 10 30315394 [T/C] NM_020848 KIAA1462 EXON Missense_G1228D exm817722 10 30315403 [T/C] NM_020848 KIAA1462 EXON Missense_S1225N exm817731 10 30315632 [T/C] NM_020848 KIAA1462 EXON Missense_R1149G exm817732 10 30315633 [C/G] NM_020848 KIAA1462 EXON Missense_R1148S exm817733 10 30315676 [A/G] NM_020848 KIAA1462 EXON Missense_P1134L exm817741 10 30315856 [A/G] NM_020848 KIAA1462 EXON Missense_I1074T exm817749 10 30316072 [G/C] NM_020848 KIAA1462 EXON Missense_S1002T exm817753 10 30316133 [A/C] NM_020848 KIAA1462 EXON Missense_S982A exm817755 10 30316208 [T/C] NM_020848 KIAA1462 EXON Missense_R957G exm817763 10 30316445 [T/C] NM_020848 KIAA1462 EXON Missense_D878N exm817789 10 30317039 [A/G] NM_020848 KIAA1462 EXON Missense_S680P exm817794 10 30317128 [T/G] NM_020848 KIAA1462 EXON Missense_Q650P exm817800 10 30317230 [A/C] NM_020848 KIAA1462 EXON Missense_S616I exm817801 10 30317276 [T/G] NM_020848 KIAA1462 EXON Missense_N601H exm817804 10 30317313 [T/G] NM_020848 KIAA1462 EXON Missense_K588N exm817806 10 30317342 [T/C] NM_020848 KIAA1462 EXON Missense_I579V exm817810 10 30317405 [A/G] NM_020848 KIAA1462 EXON Missense_L558F exm817824 10 30317689 [A/G] NM_020848 KIAA1462 EXON Missense_P463L exm817834 10 30317822 [T/C] NM_020848 KIAA1462 EXON Missense_G419S exm817838 10 30317842 [T/C] NM_020848 KIAA1462 EXON Missense_R412Q exm817841 10 30317872 [T/C] NM_020848 KIAA1462 EXON Missense_R402H exm817847 10 30317972 [T/C] NM_020848 KIAA1462 EXON Missense_G369S exm1678577 10 30318175 [T/C] NM_020848 KIAA1462 EXON Missense_H301R exm817861 10 30318298 [A/G] NM_020848 KIAA1462 EXON Missense_P260L exm817864 10 30318388 [G/C] NM_020848 KIAA1462 EXON Missense_R230P exm817870 10 30318504 [A/C] NM_020848 KIAA1462 EXON Missense_Q191H exm817873 10 30318595 [T/C] NM_020848 KIAA1462 EXON Missense_E161G exm817877 10 30318653 [T/C] NM_020848 KIAA1462 EXON Missense_A142T exm817883 10 30318719 [A/G] NM_020848 KIAA1462 EXON Missense_R120W exm1678582 10 30318743 [T/C] NM_020848 KIAA1462 EXON Missense_D112N exm-rs2505083 10 30335122 [T/C] NM_020848 KIAA1462 Silent exm817888 10 30336494 [T/C] NM_020848 KIAA1462 EXON Missense_Q83R exm817891 10 30336534 [T/C] NM_020848 KIAA1462 EXON Missense_E70K exm817899 10 30336664 [G/C] NM_020848 KIAA1462 EXON Missense_N26K exm817900 10 30336672 [T/C] NM_020848 KIAA1462 EXON Missense_E24K exm1678589 10 30336710 [A/T] NM_020848 KIAA1462 EXON Missense_H11L exm-rs2887510 10 30408814 [A/G] exm1678590 10 30602551 [T/C] NM_018109 MTPAP EXON Missense_S579N exm817913 10 30602737 [A/G] NM_018109 MTPAP EXON Missense_P517L exm2249187 10 30602802 [T/C] NM_018109 MTPAP EXON Synonymous_L495L exm817920 10 30604953 [T/C] NM_018109 MTPAP EXON Missense_K442R exm2217104 10 30629210 [T/C] NM_018109 MTPAP EXON Missense_N167S exm817955 10 30629226 [A/G] NM_018109 MTPAP EXON Missense_R162C exm817965 10 30630472 [A/T] NM_018109 MTPAP EXON Missense_K85N exm817972 10 30638090 [A/C] NM_018109 MTPAP EXON Missense_D39Y exm2266975 10 30663275 [A/G] exm1678631 10 30728042 [T/C] NM_005204,NM_001244134 MAP3K8,MAP3K8 EXON Missense_R59C,Missense_R59C exm818006 10 30736816 [A/G] NM_005204,NM_001244134 MAP3K8,MAP3K8 EXON Missense_A148T,Missense_A148T exm818032 10 30748326 [T/C] NM_005204,NM_001244134 MAP3K8,MAP3K8 EXON Missense_P390L,Missense_P390L exm818042 10 30749641 [T/C] NM_005204,NM_001244134 MAP3K8,MAP3K8 EXON Missense_S427L,Missense_S427L exm2217105 10 30749658 [A/G] NM_005204,NM_001244134 MAP3K8,MAP3K8 EXON Missense_E433K,Missense_E433K exm818047 10 30749700 [A/G] NM_005204,NM_001244134 MAP3K8,MAP3K8 EXON Missense_D447N,Missense_D447N exm2271388 10 30781288 [T/C] exm818079 10 30915707 [A/G] NM_183058 LYZL2 EXON Synonymous_N92N exm818080 10 30915708 [T/G] NM_183058 LYZL2 EXON Missense_N92T exm818101 10 30918537 [T/C] NM_183058 LYZL2 EXON Missense_R33K exm2249193 10 30993404 [A/G] exm818125 10 31134010 [G/C] NM_001143768,NR_026560,NM_001143770,NM_001143769,NM_001143767,NM_182755,NM_001143766,NM_001143771 ZNF438,ZNF438,ZNF438,ZNF438,ZNF438,ZNF438,ZNF438,ZNF438 EXON Missense_E789D,Silent,Missense_E779D,Missense_E740D,Missense_E789D,Missense_E789D,Missense_E789D,Missense_E779D exm818127 10 31134047 [T/C] NM_001143768,NR_026560,NM_001143770,NM_001143769,NM_001143767,NM_182755,NM_001143766,NM_001143771 ZNF438,ZNF438,ZNF438,ZNF438,ZNF438,ZNF438,ZNF438,ZNF438 EXON Missense_N777S,Silent,Missense_N767S,Missense_N728S,Missense_N777S,Missense_N777S,Missense_N777S,Missense_N767S exm818129 10 31134104 [T/G] NM_001143768,NR_026560,NM_001143770,NM_001143769,NM_001143767,NM_182755,NM_001143766,NM_001143771 ZNF438,ZNF438,ZNF438,ZNF438,ZNF438,ZNF438,ZNF438,ZNF438 EXON Missense_Q758P,Silent,Missense_Q748P,Missense_Q709P,Missense_Q758P,Missense_Q758P,Missense_Q758P,Missense_Q748P exm818131 10 31134144 [T/C] NM_001143768,NR_026560,NM_001143770,NM_001143769,NM_001143767,NM_182755,NM_001143766,NM_001143771 ZNF438,ZNF438,ZNF438,ZNF438,ZNF438,ZNF438,ZNF438,ZNF438 EXON Missense_G745R,Silent,Missense_G735R,Missense_G696R,Missense_G745R,Missense_G745R,Missense_G745R,Missense_G735R exm818138 10 31134246 [C/G] NM_001143768,NR_026560,NM_001143770,NM_001143769,NM_001143767,NM_182755,NM_001143766,NM_001143771 ZNF438,ZNF438,ZNF438,ZNF438,ZNF438,ZNF438,ZNF438,ZNF438 EXON Missense_E711Q,Silent,Missense_E701Q,Missense_E662Q,Missense_E711Q,Missense_E711Q,Missense_E711Q,Missense_E701Q exm818145 10 31134300 [A/C] NM_001143768,NR_026560,NM_001143770,NM_001143769,NM_001143767,NM_182755,NM_001143766,NM_001143771 ZNF438,ZNF438,ZNF438,ZNF438,ZNF438,ZNF438,ZNF438,ZNF438 EXON Missense_L693V,Silent,Missense_L683V,Missense_L644V,Missense_L693V,Missense_L693V,Missense_L693V,Missense_L683V exm818150 10 31134425 [T/C] NM_001143768,NR_026560,NM_001143770,NM_001143769,NM_001143767,NM_182755,NM_001143766,NM_001143771 ZNF438,ZNF438,ZNF438,ZNF438,ZNF438,ZNF438,ZNF438,ZNF438 EXON Missense_R651H,Silent,Missense_R641H,Missense_R602H,Missense_R651H,Missense_R651H,Missense_R651H,Missense_R641H exm818156 10 31137481 [T/C] NM_001143768,NR_026560,NM_001143770,NM_001143769,NM_001143767,NM_182755,NM_001143766,NM_001143771 ZNF438,ZNF438,ZNF438,ZNF438,ZNF438,ZNF438,ZNF438,ZNF438 EXON Missense_G618D,Silent,Missense_G608D,Missense_G569D,Missense_G618D,Missense_G618D,Missense_G618D,Missense_G608D exm1678700 10 31137496 [T/C] NM_001143768,NR_026560,NM_001143770,NM_001143769,NM_001143767,NM_182755,NM_001143766,NM_001143771 ZNF438,ZNF438,ZNF438,ZNF438,ZNF438,ZNF438,ZNF438,ZNF438 EXON Missense_D613G,Silent,Missense_D603G,Missense_D564G,Missense_D613G,Missense_D613G,Missense_D613G,Missense_D603G exm818160 10 31137611 [T/C] NM_001143768,NR_026560,NM_001143770,NM_001143769,NM_001143767,NM_182755,NM_001143766,NM_001143771 ZNF438,ZNF438,ZNF438,ZNF438,ZNF438,ZNF438,ZNF438,ZNF438 EXON Missense_V575M,Silent,Missense_V565M,Missense_V526M,Missense_V575M,Missense_V575M,Missense_V575M,Missense_V565M exm818165 10 31137673 [A/G] NM_001143768,NR_026560,NM_001143770,NM_001143769,NM_001143767,NM_182755,NM_001143766,NM_001143771 ZNF438,ZNF438,ZNF438,ZNF438,ZNF438,ZNF438,ZNF438,ZNF438 EXON Missense_M554T,Silent,Missense_M544T,Missense_M505T,Missense_M554T,Missense_M554T,Missense_M554T,Missense_M544T exm818166 10 31137680 [T/C] NM_001143768,NR_026560,NM_001143770,NM_001143769,NM_001143767,NM_182755,NM_001143766,NM_001143771 ZNF438,ZNF438,ZNF438,ZNF438,ZNF438,ZNF438,ZNF438,ZNF438 EXON Missense_T552A,Silent,Missense_T542A,Missense_T503A,Missense_T552A,Missense_T552A,Missense_T552A,Missense_T542A exm818172 10 31137803 [T/C] NM_001143768,NR_026560,NM_001143770,NM_001143769,NM_001143767,NM_182755,NM_001143766,NM_001143771 ZNF438,ZNF438,ZNF438,ZNF438,ZNF438,ZNF438,ZNF438,ZNF438 EXON Missense_V511I,Silent,Missense_V501I,Missense_V462I,Missense_V511I,Missense_V511I,Missense_V511I,Missense_V501I exm818174 10 31137854 [T/C] NM_001143768,NR_026560,NM_001143770,NM_001143769,NM_001143767,NM_182755,NM_001143766,NM_001143771 ZNF438,ZNF438,ZNF438,ZNF438,ZNF438,ZNF438,ZNF438,ZNF438 EXON Missense_V494M,Silent,Missense_V484M,Missense_V445M,Missense_V494M,Missense_V494M,Missense_V494M,Missense_V484M exm818192 10 31138577 [T/C] NM_001143768,NR_026560,NM_001143770,NM_001143769,NM_001143767,NM_182755,NM_001143766,NM_001143771 ZNF438,ZNF438,ZNF438,ZNF438,ZNF438,ZNF438,ZNF438,ZNF438 EXON Missense_A253T,Silent,Missense_A243T,Missense_A204T,Missense_A253T,Missense_A253T,Missense_A253T,Missense_A243T exm1678707 10 31138744 [T/C] NM_001143768,NR_026560,NM_001143770,NM_001143769,NM_001143767,NM_182755,NM_001143766,NM_001143771 ZNF438,ZNF438,ZNF438,ZNF438,ZNF438,ZNF438,ZNF438,ZNF438 EXON Missense_G197E,Silent,Missense_G187E,Missense_G148E,Missense_G197E,Missense_G197E,Missense_G197E,Missense_G187E exm818208 10 31139255 [T/C] NM_001143768,NR_026560,NM_001143770,NM_001143769,NM_001143767,NM_182755,NM_001143766,NM_001143771 ZNF438,ZNF438,ZNF438,ZNF438,ZNF438,ZNF438,ZNF438,ZNF438 EXON Missense_G27S,Silent,Missense_G17S,Silent,Missense_G27S,Missense_G27S,Missense_G27S,Missense_G17S exm818211 10 31146615 [T/C] NM_001143768,NR_026560,NM_001143770,NM_001143769,NM_001143767,NM_182755,NM_001143766,NM_001143771 ZNF438,ZNF438,ZNF438,ZNF438,ZNF438,ZNF438,ZNF438,ZNF438 EXON Silent,Silent,Missense_M1V,Silent,Silent,Silent,Silent,Missense_M1V exm-rs2994684 10 31366271 [T/C] exm2271271 10 31475114 [T/C] exm818222 10 31750140 [A/C] NM_001174095,NM_001174093,NM_001174096,NM_030751,NM_001174094,NM_001128128 ZEB1,ZEB1,ZEB1,ZEB1,ZEB1,ZEB1 EXON Silent,Missense_N78T,Missense_N78T,Missense_N78T,Missense_N61T,Missense_N61T exm2217113 10 31750149 [A/G] NM_001174095,NM_001174093,NM_001174096,NM_030751,NM_001174094,NM_001128128 ZEB1,ZEB1,ZEB1,ZEB1,ZEB1,ZEB1 EXON Silent,Missense_N81S,Missense_N81S,Missense_N81S,Missense_N64S,Missense_N64S exm818223 10 31784716 [A/G] NM_001174095,NM_001174093,NM_001174096,NM_030751,NM_001174094,NM_001128128 ZEB1,ZEB1,ZEB1,ZEB1,ZEB1,ZEB1 EXON Missense_G23R,Silent,Missense_G91R,Missense_G90R,Missense_G73R,Missense_G74R exm818236 10 31803635 [T/C] NM_001174095,NM_001174093,NM_001174096,NM_030751,NM_001174094,NM_001128128 ZEB1,ZEB1,ZEB1,ZEB1,ZEB1,ZEB1 EXON Synonymous_S196S,Synonymous_S243S,Synonymous_S264S,Synonymous_S263S,Synonymous_S246S,Synonymous_S247S exm818245 10 31809410 [T/G] NM_001174095,NM_001174093,NM_001174096,NM_030751,NM_001174094,NM_001128128 ZEB1,ZEB1,ZEB1,ZEB1,ZEB1,ZEB1 EXON Missense_A316S,Missense_A363S,Missense_A384S,Missense_A383S,Missense_A366S,Missense_A367S exm818263 10 31809921 [A/G] NM_001174095,NM_001174093,NM_001174096,NM_030751,NM_001174094,NM_001128128 ZEB1,ZEB1,ZEB1,ZEB1,ZEB1,ZEB1 EXON Missense_K486R,Missense_K533R,Missense_K554R,Missense_K553R,Missense_K536R,Missense_K537R exm818267 10 31810007 [T/G] NM_001174095,NM_001174093,NM_001174096,NM_030751,NM_001174094,NM_001128128 ZEB1,ZEB1,ZEB1,ZEB1,ZEB1,ZEB1 EXON Missense_L515V,Missense_L562V,Missense_L583V,Missense_L582V,Missense_L565V,Missense_L566V exm818276 10 31810237 [G/C] NM_001174095,NM_001174093,NM_001174096,NM_030751,NM_001174094,NM_001128128 ZEB1,ZEB1,ZEB1,ZEB1,ZEB1,ZEB1 EXON Missense_N591K,Missense_N638K,Missense_N659K,Missense_N658K,Missense_N641K,Missense_N642K exm818278 10 31810242 [A/G] NM_001174095,NM_001174093,NM_001174096,NM_030751,NM_001174094,NM_001128128 ZEB1,ZEB1,ZEB1,ZEB1,ZEB1,ZEB1 EXON Missense_D593G,Missense_D640G,Missense_D661G,Missense_D660G,Missense_D643G,Missense_D644G exm818285 10 31810447 [A/C] NM_001174095,NM_001174093,NM_001174096,NM_030751,NM_001174094,NM_001128128 ZEB1,ZEB1,ZEB1,ZEB1,ZEB1,ZEB1 EXON Missense_E661D,Missense_E708D,Missense_E729D,Missense_E728D,Missense_E711D,Missense_E712D exm818287 10 31810466 [G/C] NM_001174095,NM_001174093,NM_001174096,NM_030751,NM_001174094,NM_001128128 ZEB1,ZEB1,ZEB1,ZEB1,ZEB1,ZEB1 EXON Missense_L668V,Missense_L715V,Missense_L736V,Missense_L735V,Missense_L718V,Missense_L719V exm818288 10 31810514 [A/G] NM_001174095,NM_001174093,NM_001174096,NM_030751,NM_001174094,NM_001128128 ZEB1,ZEB1,ZEB1,ZEB1,ZEB1,ZEB1 EXON Missense_T684A,Missense_T731A,Missense_T752A,Missense_T751A,Missense_T734A,Missense_T735A exm818291 10 31810674 [T/C] NM_001174095,NM_001174093,NM_001174096,NM_030751,NM_001174094,NM_001128128 ZEB1,ZEB1,ZEB1,ZEB1,ZEB1,ZEB1 EXON Missense_I737T,Missense_I784T,Missense_I805T,Missense_I804T,Missense_I787T,Missense_I788T exm818292 10 31810679 [A/G] NM_001174095,NM_001174093,NM_001174096,NM_030751,NM_001174094,NM_001128128 ZEB1,ZEB1,ZEB1,ZEB1,ZEB1,ZEB1 EXON Missense_T739A,Missense_T786A,Missense_T807A,Missense_T806A,Missense_T789A,Missense_T790A exm818297 10 31810782 [A/C] NM_001174095,NM_001174093,NM_001174096,NM_030751,NM_001174094,NM_001128128 ZEB1,ZEB1,ZEB1,ZEB1,ZEB1,ZEB1 EXON Missense_Q773P,Missense_Q820P,Missense_Q841P,Missense_Q840P,Missense_Q823P,Missense_Q824P exm818298 10 31810823 [A/C] NM_001174095,NM_001174093,NM_001174096,NM_030751,NM_001174094,NM_001128128 ZEB1,ZEB1,ZEB1,ZEB1,ZEB1,ZEB1 EXON Missense_Q787K,Missense_Q834K,Missense_Q855K,Missense_Q854K,Missense_Q837K,Missense_Q838K exm818302 10 31812973 [G/C] NM_001174095,NM_001174093,NM_001174096,NM_030751,NM_001174094,NM_001128128 ZEB1,ZEB1,ZEB1,ZEB1,ZEB1,ZEB1 EXON Missense_A838G,Missense_A885G,Missense_A906G,Missense_A905G,Missense_A888G,Missense_A889G exm818309 10 31815848 [A/G] NM_001174095,NM_001174093,NM_001174096,NM_030751,NM_001174094,NM_001128128 ZEB1,ZEB1,ZEB1,ZEB1,ZEB1,ZEB1 EXON Missense_V944M,Missense_V991M,Missense_V1012M,Missense_V1011M,Missense_V994M,Missense_V995M exm818323 10 31816074 [A/C] NM_001174095,NM_001174093,NM_001174096,NM_030751,NM_001174094,NM_001128128 ZEB1,ZEB1,ZEB1,ZEB1,ZEB1,ZEB1 EXON Missense_E1019A,Missense_E1066A,Missense_E1087A,Missense_E1086A,Missense_E1069A,Missense_E1070A exm818326 10 31816130 [T/G] NM_001174095,NM_001174093,NM_001174096,NM_030751,NM_001174094,NM_001128128 ZEB1,ZEB1,ZEB1,ZEB1,ZEB1,ZEB1 EXON Missense_L1038V,Missense_L1085V,Missense_L1106V,Missense_L1105V,Missense_L1088V,Missense_L1089V exm818327 10 31816148 [A/G] NM_001174095,NM_001174093,NM_001174096,NM_030751,NM_001174094,NM_001128128 ZEB1,ZEB1,ZEB1,ZEB1,ZEB1,ZEB1 EXON Missense_E1044K,Missense_E1091K,Missense_E1112K,Missense_E1111K,Missense_E1094K,Missense_E1095K exm2259581 10 31817905 [T/C] NM_001174095,NM_001174093,NM_001174096,NM_030751,NM_001174094,NM_001128128 ZEB1,ZEB1,ZEB1,ZEB1,ZEB1,ZEB1 EXON Silent,Silent,Silent,Silent,Silent,Silent exm2271272 10 31888431 [T/C] exm-rs7081678 10 31990623 [A/G] exm818349 10 32099648 [T/C] NM_001270695,NM_001270697,NM_001270696,NM_018287,NM_001270699,NM_001270698 ARHGAP12,ARHGAP12,ARHGAP12,ARHGAP12,ARHGAP12,ARHGAP12 EXON Missense_N655S,Missense_N613S,Missense_N630S,Missense_N660S,Missense_N608S,Missense_N583S exm818370 10 32128246 [A/G] NM_001270695,NM_001270697,NM_001270696,NM_018287,NM_001270699,NM_001270698 ARHGAP12,ARHGAP12,ARHGAP12,ARHGAP12,ARHGAP12,ARHGAP12 EXON Silent,Missense_A411V,Silent,Missense_A458V,Silent,Silent exm818374 10 32128577 [A/C] NM_001270695,NM_001270697,NM_001270696,NM_018287,NM_001270699,NM_001270698 ARHGAP12,ARHGAP12,ARHGAP12,ARHGAP12,ARHGAP12,ARHGAP12 EXON Missense_K453N,Missense_K406N,Silent,Missense_K453N,Missense_K406N,Silent exm818375 10 32128611 [A/G] NM_001270695,NM_001270697,NM_001270696,NM_018287,NM_001270699,NM_001270698 ARHGAP12,ARHGAP12,ARHGAP12,ARHGAP12,ARHGAP12,ARHGAP12 EXON Missense_F442S,Missense_F395S,Silent,Missense_F442S,Missense_F395S,Silent exm818384 10 32143035 [A/G] NM_001270695,NM_001270697,NM_001270696,NM_018287,NM_001270699,NM_001270698 ARHGAP12,ARHGAP12,ARHGAP12,ARHGAP12,ARHGAP12,ARHGAP12 EXON Missense_R350C,Silent,Missense_R350C,Missense_R350C,Silent,Silent exm818398 10 32197188 [G/C] NM_001270695,NM_001270697,NM_001270696,NM_018287,NM_001270699,NM_001270698 ARHGAP12,ARHGAP12,ARHGAP12,ARHGAP12,ARHGAP12,ARHGAP12 EXON Missense_C199S,Missense_C199S,Missense_C199S,Missense_C199S,Missense_C199S,Missense_C199S exm818400 10 32197194 [T/C] NM_001270695,NM_001270697,NM_001270696,NM_018287,NM_001270699,NM_001270698 ARHGAP12,ARHGAP12,ARHGAP12,ARHGAP12,ARHGAP12,ARHGAP12 EXON Missense_Q197R,Missense_Q197R,Missense_Q197R,Missense_Q197R,Missense_Q197R,Missense_Q197R exm818414 10 32197602 [A/G] NM_001270695,NM_001270697,NM_001270696,NM_018287,NM_001270699,NM_001270698 ARHGAP12,ARHGAP12,ARHGAP12,ARHGAP12,ARHGAP12,ARHGAP12 EXON Missense_A61V,Missense_A61V,Missense_A61V,Missense_A61V,Missense_A61V,Missense_A61V exm818420 10 32304483 [A/G] NM_004521 KIF5B EXON Nonsense_R956X exm818426 10 32304579 [T/C] NM_004521 KIF5B EXON Missense_I924V exm818440 10 32308786 [A/G] NM_004521 KIF5B EXON Missense_T769M exm818457 10 32317454 [T/C] NM_004521 KIF5B EXON Missense_M543V exm818459 10 32320002 [A/G] NM_004521 KIF5B EXON Missense_S527L exm1679007 10 32321656 [A/G] NM_004521 KIF5B EXON Missense_T451M exm818472 10 32322960 [A/G] NM_004521 KIF5B EXON Missense_T373M exm2271390 10 32487505 [T/C] exm2266977 10 32515093 [A/G] exm818518 10 32560779 [A/G] NR_073538,NM_001272019,NM_025209,NM_001272004 EPC1,EPC1,EPC1,EPC1 EXON Silent,Missense_T620M,Missense_T714M,Missense_T691M exm818519 10 32560812 [A/G] NR_073538,NM_001272019,NM_025209,NM_001272004 EPC1,EPC1,EPC1,EPC1 EXON Silent,Missense_T609I,Missense_T703I,Missense_T680I exm818521 10 32560969 [T/C] NR_073538,NM_001272019,NM_025209,NM_001272004 EPC1,EPC1,EPC1,EPC1 EXON Silent,Missense_V593I,Missense_V687I,Missense_V664I exm818540 10 32573673 [T/C] NR_073538,NM_001272019,NM_025209,NM_001272004 EPC1,EPC1,EPC1,EPC1 EXON Silent,Missense_C495Y,Missense_C566Y,Missense_C566Y exm818542 10 32573700 [T/C] NR_073538,NM_001272019,NM_025209,NM_001272004 EPC1,EPC1,EPC1,EPC1 EXON Silent,Missense_G486E,Missense_G557E,Missense_G557E exm818548 10 32573803 [A/C] NR_073538,NM_001272019,NM_025209,NM_001272004 EPC1,EPC1,EPC1,EPC1 EXON Silent,Missense_S452A,Missense_S523A,Missense_S523A exm818565 10 32575674 [T/C] NR_073538,NM_001272019,NM_025209,NM_001272004 EPC1,EPC1,EPC1,EPC1 EXON Silent,Missense_V376I,Missense_V447I,Missense_V447I exm818568 10 32575715 [A/G] NR_073538,NM_001272019,NM_025209,NM_001272004 EPC1,EPC1,EPC1,EPC1 EXON Silent,Missense_L362S,Missense_L433S,Missense_L433S exm818571 10 32576084 [T/C] NR_073538,NM_001272019,NM_025209,NM_001272004 EPC1,EPC1,EPC1,EPC1 EXON Silent,Missense_N294S,Missense_N365S,Missense_N365S exm818584 10 32580205 [T/C] NR_073538,NM_001272019,NM_025209,NM_001272004 EPC1,EPC1,EPC1,EPC1 EXON Silent,Missense_M216I,Missense_M287I,Missense_M287I exm818585 10 32580218 [A/G] NR_073538,NM_001272019,NM_025209,NM_001272004 EPC1,EPC1,EPC1,EPC1 EXON Silent,Missense_M212T,Missense_M283T,Missense_M283T exm818586 10 32580219 [T/C] NR_073538,NM_001272019,NM_025209,NM_001272004 EPC1,EPC1,EPC1,EPC1 EXON Silent,Missense_M212V,Missense_M283V,Missense_M283V exm2249203 10 32581546 [A/G] NR_073538,NM_001272019,NM_025209,NM_001272004 EPC1,EPC1,EPC1,EPC1 EXON Silent,Synonymous_Y160Y,Synonymous_Y231Y,Synonymous_Y231Y exm2266978 10 32685008 [A/G] exm818617 10 32740611 [T/C] NM_001026383,NM_145023 CCDC7,CCDC7 EXON Missense_S14L,Missense_S14L exm818619 10 32740634 [A/G] NM_001026383,NM_145023 CCDC7,CCDC7 EXON Missense_T22A,Missense_T22A exm818622 10 32740722 [T/C] NM_001026383,NM_145023 CCDC7,CCDC7 EXON Missense_M51T,Missense_M51T exm818632 10 32742291 [A/G] NM_001026383,NM_145023 CCDC7,CCDC7 EXON Missense_E100G,Missense_E100G exm818634 10 32742299 [C/G] NM_001026383,NM_145023 CCDC7,CCDC7 EXON Missense_G103R,Missense_G103R exm818640 10 32745248 [A/C] NM_001026383,NM_145023 CCDC7,CCDC7 EXON Missense_K148Q,Missense_K148Q exm818641 10 32745262 [T/C] NM_001026383,NM_145023 CCDC7,CCDC7 EXON Synonymous_N152N,Synonymous_N152N exm818648 10 32751961 [T/G] NM_001026383,NM_145023 CCDC7,CCDC7 EXON Missense_V165G,Missense_V165G exm818653 10 32760016 [T/C] NM_001026383,NM_145023 CCDC7,CCDC7 EXON Nonsense_Q179X,Nonsense_Q179X exm818657 10 32760106 [T/C] NM_001026383,NM_145023 CCDC7,CCDC7 EXON Missense_R209C,Missense_R209C exm818659 10 32761422 [C/G] NM_001026383,NM_145023 CCDC7,CCDC7 EXON Missense_R231G,Missense_R231G exm818663 10 32762909 [A/C] NM_001026383,NM_145023 CCDC7,CCDC7 EXON Missense_H252N,Missense_H252N exm818664 10 32762931 [T/A] NM_001026383,NM_145023 CCDC7,CCDC7 EXON Missense_D259V,Missense_D259V exm818665 10 32762942 [A/G] NM_001026383,NM_145023 CCDC7,CCDC7 EXON Missense_T263A,Missense_T263A exm818666 10 32762951 [T/C] NM_001026383,NM_145023 CCDC7,CCDC7 EXON Nonsense_Q266X,Nonsense_Q266X exm2217131 10 32780873 [T/C] NM_001026383,NM_145023 CCDC7,CCDC7 EXON Nonsense_R274X,Nonsense_R274X exm818670 10 32780886 [T/C] NM_001026383,NM_145023 CCDC7,CCDC7 EXON Missense_M278T,Missense_M278T exm818671 10 32780902 [A/C] NM_001026383,NM_145023 CCDC7,CCDC7 EXON Missense_E283D,Missense_E283D exm818678 10 32807434 [T/G] NM_001026383,NM_145023 CCDC7,CCDC7 Silent,Silent exm818692 10 32856665 [A/G] NM_001026383,NM_145023,NM_024688 CCDC7,CCDC7,C10orf68 EXON Missense_G422E,Missense_G422E,Silent exm818694 10 32856720 [A/T] NM_001026383,NM_145023,NM_024688 CCDC7,CCDC7,C10orf68 EXON Missense_E440D,Missense_E440D,Silent exm818696 10 32856746 [A/C] NM_001026383,NM_145023,NM_024688 CCDC7,CCDC7,C10orf68 EXON Missense_K449T,Missense_K449T,Silent exm818711 10 32974954 [A/G] NM_024688 C10orf68 EXON Missense_K34E exm818712 10 32974969 [A/G] NM_024688 C10orf68 EXON Missense_I39V exm818719 10 32983845 [T/C] NM_024688 C10orf68 EXON Missense_H102Y exm818721 10 32983867 [T/G] NM_024688 C10orf68 EXON Missense_L109R exm818734 10 33015712 [G/C] NM_024688 C10orf68 EXON Missense_Q181E exm818744 10 33017817 [T/C] NM_024688 C10orf68 EXON Missense_R198C exm818745 10 33017818 [A/G] NM_024688 C10orf68 EXON Missense_R198H exm818749 10 33017911 [A/T] NM_024688 C10orf68 EXON Missense_V229E exm818750 10 33018261 [A/G] NM_024688 C10orf68 EXON Synonymous_T234T exm818757 10 33093952 [T/C] NM_024688 C10orf68 EXON Missense_I279T exm818763 10 33103363 [T/C] NM_024688 C10orf68 EXON Nonsense_R326X exm818764 10 33103364 [A/G] NM_024688 C10orf68 EXON Missense_R326Q exm818765 10 33113448 [A/G] NM_024688 C10orf68 EXON Missense_T333A exm1679146 10 33123757 [T/C] NM_024688 C10orf68 EXON Missense_H366Y exm818776 10 33123776 [A/G] NM_024688 C10orf68 EXON Missense_G372E exm818782 10 33134850 [A/G] NM_024688 C10orf68 EXON Missense_I432M exm818786 10 33135384 [G/C] NM_024688 C10orf68 EXON Missense_Q472E exm818792 10 33137522 [A/G] NM_024688 C10orf68 Silent exm818793 10 33137531 [G/C] NM_024688 C10orf68 EXON Missense_N503K exm818794 10 33137551 [T/C] NM_024688 C10orf68 EXON Missense_M510T exm818797 10 33137574 [A/C] NM_024688 C10orf68 EXON Missense_I518L exm818807 10 33143396 [A/G] NM_024688 C10orf68 EXON Missense_V607I exm818817 10 33195991 [A/G] NM_002211,NM_133376,NM_033668 ITGB1,ITGB1,ITGB1 EXON Silent,Silent,Silent exm818818 10 33195999 [A/G] NM_002211,NM_133376,NM_033668 ITGB1,ITGB1,ITGB1 EXON Silent,Silent,Missense_X802Q exm818835 10 33199342 [T/C] NM_002211,NM_133376,NM_033668 ITGB1,ITGB1,ITGB1 EXON Missense_K658R,Missense_K658R,Missense_K658R exm818860 10 33209259 [T/C] NM_002211,NM_133376,NM_033668 ITGB1,ITGB1,ITGB1 EXON Missense_I395V,Missense_I395V,Missense_I395V exm818868 10 33211570 [T/C] NM_002211,NM_133376,NM_033668 ITGB1,ITGB1,ITGB1 EXON Missense_K346E,Missense_K346E,Missense_K346E exm818876 10 33214867 [A/G] NM_002211,NM_133376,NM_033668 ITGB1,ITGB1,ITGB1 EXON Missense_R240C,Missense_R240C,Missense_R240C exm1679197 10 33214983 [A/G] NM_002211,NM_133376,NM_033668 ITGB1,ITGB1,ITGB1 EXON Missense_A201V,Missense_A201V,Missense_A201V exm818885 10 33218860 [A/G] NM_002211,NM_133376,NM_033668 ITGB1,ITGB1,ITGB1 EXON Missense_I89T,Missense_I89T,Missense_I89T exm818886 10 33218893 [T/C] NM_002211,NM_133376,NM_033668 ITGB1,ITGB1,ITGB1 EXON Missense_D78G,Missense_D78G,Missense_D78G exm1679207 10 33221523 [T/C] NM_002211,NM_133376,NM_033668 ITGB1,ITGB1,ITGB1 EXON Missense_N25D,Missense_N25D,Missense_N25D exm-rs11009175 10 33294775 [A/G] exm2249205 10 33421548 [A/G] exm818899 10 33469144 [T/C] NR_045259,NM_003873,NM_001244973,NM_001244972 NRP1,NRP1,NRP1,NRP1 EXON Silent,Missense_V878M,Missense_V871M,Missense_V872M exm818907 10 33469276 [T/C] NR_045259,NM_003873,NM_001244973,NM_001244972 NRP1,NRP1,NRP1,NRP1 EXON Silent,Missense_E834K,Missense_E827K,Missense_E828K exm818912 10 33471637 [A/G] NR_045259,NM_003873,NM_001244973,NM_001244972 NRP1,NRP1,NRP1,NRP1 EXON Silent,Missense_I824T,Missense_I817T,Missense_I818T exm818922 10 33475282 [T/C] NR_045259,NM_003873,NM_001244973,NM_001244972 NRP1,NRP1,NRP1,NRP1 EXON Silent,Missense_V733I,Missense_V726I,Missense_V727I exm818934 10 33486596 [T/C] NR_045259,NM_003873,NM_001244973,NM_001244972,NM_001024629,NM_001024628 NRP1,NRP1,NRP1,NRP1,NRP1,NRP1 EXON Silent,Missense_D636N,Missense_D629N,Missense_D629N,Missense_D601N,Missense_D636N exm818954 10 33496576 [G/C] NR_045259,NM_003873,NM_001244973,NM_001244972,NM_001024629,NM_001024628 NRP1,NRP1,NRP1,NRP1,NRP1,NRP1 EXON Silent,Missense_F561L,Missense_F561L,Missense_F561L,Missense_F561L,Missense_F561L exm818967 10 33502357 [A/G] NR_045259,NM_003873,NM_001244973,NM_001244972,NM_001024629,NM_001024628 NRP1,NRP1,NRP1,NRP1,NRP1,NRP1 EXON Silent,Missense_S524L,Missense_S524L,Missense_S524L,Missense_S524L,Missense_S524L exm818982 10 33502633 [A/G] NR_045259,NM_003873,NM_001244973,NM_001244972,NM_001024629,NM_001024628 NRP1,NRP1,NRP1,NRP1,NRP1,NRP1 EXON Silent,Missense_S432F,Missense_S432F,Missense_S432F,Missense_S432F,Missense_S432F exm2249208 10 33515188 [T/C] NR_045259,NM_003873,NM_001244973,NM_001244972,NM_001024629,NM_001024628 NRP1,NRP1,NRP1,NRP1,NRP1,NRP1 EXON Silent,Synonymous_T337T,Synonymous_T337T,Synonymous_T337T,Synonymous_T337T,Synonymous_T337T exm819011 10 33545258 [T/C] NR_045259,NM_003873,NM_001244973,NM_001244972,NM_001024629,NM_001024628 NRP1,NRP1,NRP1,NRP1,NRP1,NRP1 EXON Silent,Missense_S267N,Missense_S267N,Missense_S267N,Missense_S267N,Missense_S267N exm819017 10 33552612 [T/C] NR_045259,NM_003873,NM_001244973,NM_001244972,NM_001024629,NM_001024628 NRP1,NRP1,NRP1,NRP1,NRP1,NRP1 EXON Silent,Missense_R207H,Missense_R207H,Missense_R207H,Missense_R207H,Missense_R207H exm819019 10 33552696 [A/G] NR_045259,NM_003873,NM_001244973,NM_001244972,NM_001024629,NM_001024628 NRP1,NRP1,NRP1,NRP1,NRP1,NRP1 EXON Silent,Missense_V179A,Missense_V179A,Missense_V179A,Missense_V179A,Missense_V179A exm2274398 10 33559615 [T/G] NR_045259,NM_003873,NM_001244973,NM_001244972,NM_001024629,NM_001024628 NRP1,NRP1,NRP1,NRP1,NRP1,NRP1 EXON Silent,Missense_I140L,Missense_I140L,Missense_I140L,Missense_I140L,Missense_I140L exm2271273 10 33567133 [T/G] NR_045259,NM_003873,NM_001244973,NM_001244972,NM_001024629,NM_001024628 NRP1,NRP1,NRP1,NRP1,NRP1,NRP1 Silent,Silent,Silent,Silent,Silent,Silent exm2267089 10 33606189 [A/G] NR_045259,NM_003873,NM_001244973,NM_001244972,NM_001024629,NM_001024628 NRP1,NRP1,NRP1,NRP1,NRP1,NRP1 Silent,Silent,Silent,Silent,Silent,Silent exm-rs1412115 10 34088053 [T/C] exm-rs7905537 10 34231275 [A/C] exm2266980 10 34237166 [A/G] exm-rs1780436 10 34257612 [A/G] exm819073 10 34408649 [A/G] NM_001184786,NM_001184787,NM_001184788,NM_001184789,NM_001184791,NM_019619,NM_001184790,NM_001184785 PARD3,PARD3,PARD3,PARD3,PARD3,PARD3,PARD3,PARD3 EXON Missense_T1174M,Missense_T1153M,Missense_T1144M,Missense_T1107M,Missense_T1078M,Missense_T1190M,Missense_T1100M,Missense_T1187M exm819076 10 34420422 [T/C] NM_001184786,NM_001184787,NM_001184788,NM_001184789,NM_001184791,NM_019619,NM_001184790,NM_001184785 PARD3,PARD3,PARD3,PARD3,PARD3,PARD3,PARD3,PARD3 EXON Missense_R1157H,Missense_R1136H,Missense_R1127H,Missense_R1090H,Missense_R1061H,Missense_R1173H,Missense_R1083H,Missense_R1170H exm819077 10 34420423 [A/G] NM_001184786,NM_001184787,NM_001184788,NM_001184789,NM_001184791,NM_019619,NM_001184790,NM_001184785 PARD3,PARD3,PARD3,PARD3,PARD3,PARD3,PARD3,PARD3 EXON Missense_R1157C,Missense_R1136C,Missense_R1127C,Missense_R1090C,Missense_R1061C,Missense_R1173C,Missense_R1083C,Missense_R1170C exm2271391 10 34536049 [T/C] NM_001184786,NM_001184787,NM_001184788,NM_001184789,NM_001184791,NM_019619,NM_001184790,NM_001184785 PARD3,PARD3,PARD3,PARD3,PARD3,PARD3,PARD3,PARD3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm819080 10 34558652 [A/G] NM_001184786,NM_001184787,NM_001184788,NM_001184789,NM_001184791,NM_019619,NM_001184790,NM_001184785 PARD3,PARD3,PARD3,PARD3,PARD3,PARD3,PARD3,PARD3 EXON Missense_H1105Y,Missense_H1084Y,Missense_H1075Y,Missense_H1038Y,Missense_H1009Y,Missense_H1121Y,Missense_H1031Y,Missense_H1118Y exm819085 10 34558712 [T/C] NM_001184786,NM_001184787,NM_001184788,NM_001184789,NM_001184791,NM_019619,NM_001184790,NM_001184785 PARD3,PARD3,PARD3,PARD3,PARD3,PARD3,PARD3,PARD3 EXON Missense_V1085I,Missense_V1064I,Missense_V1055I,Missense_V1018I,Missense_V989I,Missense_V1101I,Missense_V1011I,Missense_V1098I exm819086 10 34558715 [T/C] NM_001184786,NM_001184787,NM_001184788,NM_001184789,NM_001184791,NM_019619,NM_001184790,NM_001184785 PARD3,PARD3,PARD3,PARD3,PARD3,PARD3,PARD3,PARD3 EXON Missense_G1084R,Missense_G1063R,Missense_G1054R,Missense_G1017R,Missense_G988R,Missense_G1100R,Missense_G1010R,Missense_G1097R exm819087 10 34558717 [T/C] NM_001184786,NM_001184787,NM_001184788,NM_001184789,NM_001184791,NM_019619,NM_001184790,NM_001184785 PARD3,PARD3,PARD3,PARD3,PARD3,PARD3,PARD3,PARD3 EXON Missense_G1083E,Missense_G1062E,Missense_G1053E,Missense_G1016E,Missense_G987E,Missense_G1099E,Missense_G1009E,Missense_G1096E exm819104 10 34601308 [A/C] NM_001184786,NM_001184787,NM_001184788,NM_001184789,NM_001184791,NM_019619,NM_001184790,NM_001184785,NM_001184792,NM_001184794,NM_001184793 PARD3,PARD3,PARD3,PARD3,PARD3,PARD3,PARD3,PARD3,PARD3,PARD3,PARD3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_L1023R,Missense_L980R,Missense_L992R exm819111 10 34606100 [T/G] NM_001184786,NM_001184787,NM_001184788,NM_001184789,NM_001184791,NM_019619,NM_001184790,NM_001184785,NM_001184792,NM_001184794,NM_001184793 PARD3,PARD3,PARD3,PARD3,PARD3,PARD3,PARD3,PARD3,PARD3,PARD3,PARD3 EXON Missense_R987S,Missense_R1003S,Missense_R957S,Missense_R957S,Missense_R928S,Missense_R1003S,Missense_R913S,Missense_R1000S,Missense_R1000S,Missense_R957S,Missense_R969S exm819115 10 34606158 [T/C] NM_001184786,NM_001184787,NM_001184788,NM_001184789,NM_001184791,NM_019619,NM_001184790,NM_001184785,NM_001184792,NM_001184794,NM_001184793 PARD3,PARD3,PARD3,PARD3,PARD3,PARD3,PARD3,PARD3,PARD3,PARD3,PARD3 EXON Missense_K968R,Missense_K984R,Missense_K938R,Missense_K938R,Missense_K909R,Missense_K984R,Missense_K894R,Missense_K981R,Missense_K981R,Missense_K938R,Missense_K950R exm819121 10 34620077 [A/G] NM_001184786,NM_001184787,NM_001184788,NM_001184789,NM_001184791,NM_019619,NM_001184790,NM_001184785,NM_001184792,NM_001184794,NM_001184793 PARD3,PARD3,PARD3,PARD3,PARD3,PARD3,PARD3,PARD3,PARD3,PARD3,PARD3 EXON Missense_A921V,Missense_A937V,Missense_A891V,Missense_A891V,Missense_A862V,Missense_A937V,Missense_A847V,Missense_A934V,Missense_A934V,Missense_A891V,Missense_A903V exm819141 10 34630570 [T/C] NM_001184786,NM_001184787,NM_001184788,NM_001184789,NM_001184791,NM_019619,NM_001184790,NM_001184785,NM_001184792,NM_001184794,NM_001184793 PARD3,PARD3,PARD3,PARD3,PARD3,PARD3,PARD3,PARD3,PARD3,PARD3,PARD3 EXON Missense_S785N,Missense_S801N,Missense_S785N,Missense_S785N,Missense_S741N,Missense_S801N,Missense_S741N,Missense_S798N,Missense_S798N,Missense_S785N,Missense_S798N exm819161 10 34648232 [T/C] NM_001184786,NM_001184787,NM_001184788,NM_001184789,NM_001184791,NM_019619,NM_001184790,NM_001184785,NM_001184792,NM_001184794,NM_001184793 PARD3,PARD3,PARD3,PARD3,PARD3,PARD3,PARD3,PARD3,PARD3,PARD3,PARD3 EXON Missense_R624Q,Missense_R637Q,Missense_R624Q,Missense_R624Q,Missense_R580Q,Missense_R637Q,Missense_R580Q,Missense_R637Q,Missense_R637Q,Missense_R624Q,Missense_R637Q exm2274399 10 34649172 [T/C] NM_001184786,NM_001184787,NM_001184788,NM_001184789,NM_001184791,NM_019619,NM_001184790,NM_001184785,NM_001184792,NM_001184794,NM_001184793 PARD3,PARD3,PARD3,PARD3,PARD3,PARD3,PARD3,PARD3,PARD3,PARD3,PARD3 EXON Missense_D562N,Missense_D575N,Missense_D562N,Missense_D562N,Missense_D518N,Missense_D575N,Missense_D518N,Missense_D575N,Missense_D575N,Missense_D562N,Missense_D575N exm819180 10 34671513 [T/C] NM_001184786,NM_001184787,NM_001184788,NM_001184789,NM_001184791,NM_019619,NM_001184790,NM_001184785,NM_001184792,NM_001184794,NM_001184793 PARD3,PARD3,PARD3,PARD3,PARD3,PARD3,PARD3,PARD3,PARD3,PARD3,PARD3 EXON Missense_N452D,Missense_N452D,Missense_N452D,Missense_N452D,Missense_N408D,Missense_N452D,Missense_N408D,Missense_N452D,Missense_N452D,Missense_N452D,Missense_N452D exm819186 10 34671617 [A/G] NM_001184786,NM_001184787,NM_001184788,NM_001184789,NM_001184791,NM_019619,NM_001184790,NM_001184785,NM_001184792,NM_001184794,NM_001184793 PARD3,PARD3,PARD3,PARD3,PARD3,PARD3,PARD3,PARD3,PARD3,PARD3,PARD3 EXON Missense_S417F,Missense_S417F,Missense_S417F,Missense_S417F,Missense_S373F,Missense_S417F,Missense_S373F,Missense_S417F,Missense_S417F,Missense_S417F,Missense_S417F exm819190 10 34671665 [A/G] NM_001184786,NM_001184787,NM_001184788,NM_001184789,NM_001184791,NM_019619,NM_001184790,NM_001184785,NM_001184792,NM_001184794,NM_001184793 PARD3,PARD3,PARD3,PARD3,PARD3,PARD3,PARD3,PARD3,PARD3,PARD3,PARD3 EXON Missense_T401M,Missense_T401M,Missense_T401M,Missense_T401M,Missense_T357M,Missense_T401M,Missense_T357M,Missense_T401M,Missense_T401M,Missense_T401M,Missense_T401M exm819196 10 34671743 [T/C] NM_001184786,NM_001184787,NM_001184788,NM_001184789,NM_001184791,NM_019619,NM_001184790,NM_001184785,NM_001184792,NM_001184794,NM_001184793 PARD3,PARD3,PARD3,PARD3,PARD3,PARD3,PARD3,PARD3,PARD3,PARD3,PARD3 EXON Missense_N375S,Missense_N375S,Missense_N375S,Missense_N375S,Missense_N331S,Missense_N375S,Missense_N331S,Missense_N375S,Missense_N375S,Missense_N375S,Missense_N375S exm1679330 10 34671821 [T/C] NM_001184786,NM_001184787,NM_001184788,NM_001184789,NM_001184791,NM_019619,NM_001184790,NM_001184785,NM_001184792,NM_001184794,NM_001184793 PARD3,PARD3,PARD3,PARD3,PARD3,PARD3,PARD3,PARD3,PARD3,PARD3,PARD3 EXON Missense_R349H,Missense_R349H,Missense_R349H,Missense_R349H,Missense_R305H,Missense_R349H,Missense_R305H,Missense_R349H,Missense_R349H,Missense_R349H,Missense_R349H exm819205 10 34688273 [G/C] NM_001184786,NM_001184787,NM_001184788,NM_001184789,NM_001184791,NM_019619,NM_001184790,NM_001184785,NM_001184792,NM_001184794,NM_001184793 PARD3,PARD3,PARD3,PARD3,PARD3,PARD3,PARD3,PARD3,PARD3,PARD3,PARD3 EXON Missense_S292T,Missense_S292T,Missense_S292T,Missense_S292T,Missense_S248T,Missense_S292T,Missense_S248T,Missense_S292T,Missense_S292T,Missense_S292T,Missense_S292T exm2271274 10 34714686 [T/C] NM_001184786,NM_001184787,NM_001184788,NM_001184789,NM_001184791,NM_019619,NM_001184790,NM_001184785,NM_001184792,NM_001184794,NM_001184793 PARD3,PARD3,PARD3,PARD3,PARD3,PARD3,PARD3,PARD3,PARD3,PARD3,PARD3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm819216 10 34739349 [A/G] NM_001184786,NM_001184787,NM_001184788,NM_001184789,NM_001184791,NM_019619,NM_001184790,NM_001184785,NM_001184792,NM_001184794,NM_001184793 PARD3,PARD3,PARD3,PARD3,PARD3,PARD3,PARD3,PARD3,PARD3,PARD3,PARD3 EXON Missense_R204W,Missense_R204W,Missense_R204W,Missense_R204W,Silent,Missense_R204W,Silent,Missense_R204W,Missense_R204W,Missense_R204W,Missense_R204W exm819231 10 34805989 [G/C] NM_001184786,NM_001184787,NM_001184788,NM_001184789,NM_001184791,NM_019619,NM_001184790,NM_001184785,NM_001184792,NM_001184794,NM_001184793 PARD3,PARD3,PARD3,PARD3,PARD3,PARD3,PARD3,PARD3,PARD3,PARD3,PARD3 EXON Missense_E107D,Missense_E107D,Missense_E107D,Missense_E107D,Missense_E107D,Missense_E107D,Missense_E107D,Missense_E107D,Missense_E107D,Missense_E107D,Missense_E107D exm-rs563507 10 34817988 [A/G] NM_001184786,NM_001184787,NM_001184788,NM_001184789,NM_001184791,NM_019619,NM_001184790,NM_001184785,NM_001184792,NM_001184794,NM_001184793 PARD3,PARD3,PARD3,PARD3,PARD3,PARD3,PARD3,PARD3,PARD3,PARD3,PARD3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm2266981 10 35159791 [A/G] exm-rs17582416 10 35287650 [T/G] exm819247 10 35299267 [A/G] NM_001198778,NM_003591,NM_001198777,NM_001198779 CUL2,CUL2,CUL2,CUL2 EXON Missense_S756L,Missense_S737L,Missense_S737L,Missense_S750L exm819289 10 35322192 [C/G] NM_001198778,NM_003591,NM_001198777,NM_001198779 CUL2,CUL2,CUL2,CUL2 EXON Missense_L357V,Missense_L338V,Missense_L338V,Missense_L351V exm819291 10 35322199 [T/C] NM_001198778,NM_003591,NM_001198777,NM_001198779 CUL2,CUL2,CUL2,CUL2 EXON Missense_M354I,Missense_M335I,Missense_M335I,Missense_M348I exm819337 10 35437375 [C/G] NM_001881,NM_001267562,NM_183013,NM_001267563,NR_051973,NR_051974,NR_051975,NM_181571,NM_183060,NM_183011,NM_183012 CREM,CREM,CREM,CREM,CREM,CREM,CREM,CREM,CREM,CREM,CREM EXON Missense_V26L,Silent,Missense_V42L,Silent,Silent,Silent,Silent,Missense_V42L,Missense_V26L,Missense_V42L,Missense_V42L exm819340 10 35456688 [A/G] NM_001881,NM_001267562,NM_183013,NM_001267563,NR_051973,NR_051974,NR_051975,NM_181571,NM_183060,NM_183011,NM_183012,NM_182771,NM_182772,NM_001267564,NM_001267565 CREM,CREM,CREM,CREM,CREM,CREM,CREM,CREM,CREM,CREM,CREM,CREM,CREM,CREM,CREM EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_R12H,Missense_R12H,Missense_R12H,Missense_R12H exm1679400 10 35468222 [T/C] NM_001881,NM_001267562,NM_183013,NM_001267563,NR_051973,NR_051974,NR_051975,NM_181571,NM_183060,NM_183011,NM_183012,NM_182771,NM_182772,NM_001267564,NM_001267565,NM_182770,NM_182769,NM_001267566,NM_001267567 CREM,CREM,CREM,CREM,CREM,CREM,CREM,CREM,CREM,CREM,CREM,CREM,CREM,CREM,CREM,CREM,CREM,CREM,CREM EXON Nonsense_R127X,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Nonsense_R121X,Silent,Silent,Nonsense_R88X,Silent exm819357 10 35468240 [A/G] NM_001881,NM_001267562,NM_183013,NM_001267563,NR_051973,NR_051974,NR_051975,NM_181571,NM_183060,NM_183011,NM_183012,NM_182771,NM_182772,NM_001267564,NM_001267565,NM_182770,NM_182769,NM_001267566,NM_001267567 CREM,CREM,CREM,CREM,CREM,CREM,CREM,CREM,CREM,CREM,CREM,CREM,CREM,CREM,CREM,CREM,CREM,CREM,CREM EXON Missense_A133T,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_A127T,Silent,Silent,Missense_A94T,Silent exm819362 10 35477274 [A/C] NM_001267562,NM_183013,NM_001267563,NR_051973,NR_051974,NR_051975,NM_181571,NM_183060,NM_183011,NM_183012,NM_182771,NM_182772,NM_001267564,NM_182770,NM_182769,NM_001267567 CREM,CREM,CREM,CREM,CREM,CREM,CREM,CREM,CREM,CREM,CREM,CREM,CREM,CREM,CREM,CREM EXON Missense_T65P,Silent,Silent,Silent,Silent,Silent,Missense_T186P,Silent,Missense_T186P,Silent,Missense_T156P,Silent,Missense_T156P,Silent,Missense_T131P,Missense_T24P exm819372 10 35485028 [T/G] NM_001267562,NM_183013,NM_001267563,NR_051973,NR_051974,NR_051975,NM_181571,NM_183060,NM_183011,NM_183012,NM_182771,NM_182772,NM_001267564,NM_182770,NM_182769,NM_001267567,NM_182720,NM_001267568,NM_182717,NM_182718,NM_001267569,NM_182719,NR_051971,NM_001267570,NR_051972,NM_182721,NM_182723,NM_182724 CREM,CREM,CREM,CREM,CREM,CREM,CREM,CREM,CREM,CREM,CREM,CREM,CREM,CREM,CREM,CREM,CREM,CREM,CREM,CREM,CREM,CREM,CREM,CREM,CREM,CREM,CREM,CREM EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm819373 10 35490411 [A/G] NM_001267562,NM_183013,NM_001267563,NR_051973,NR_051974,NR_051975,NM_181571,NM_183060,NM_183011,NM_183012,NM_182771,NM_182772,NM_001267564,NM_182770,NM_182769,NM_001267567,NM_182720,NM_001267568,NM_182717,NM_182718,NM_001267569,NM_182719,NR_051971,NM_001267570,NR_051972,NM_182721,NM_182723,NM_182724 CREM,CREM,CREM,CREM,CREM,CREM,CREM,CREM,CREM,CREM,CREM,CREM,CREM,CREM,CREM,CREM,CREM,CREM,CREM,CREM,CREM,CREM,CREM,CREM,CREM,CREM,CREM,CREM EXON Silent,Missense_A148T,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_A181T,Silent,Silent,Silent,Silent,Silent,Missense_A20T,Silent,Missense_A20T,Missense_A20T,Silent,Missense_A24T,Silent,Silent,Missense_A2T,Silent exm819388 10 35500673 [A/G] NM_001267562,NM_183013,NM_001267563,NR_051973,NR_051974,NR_051975,NM_181571,NM_183060,NM_183011,NM_183012,NM_182771,NM_182772,NM_001267564,NM_182770,NM_182769,NM_001267567,NM_182720,NM_182717,NM_182718,NM_182719,NR_051971,NM_001267570,NR_051972,NM_182721,NM_182723,NM_182724 CREM,CREM,CREM,CREM,CREM,CREM,CREM,CREM,CREM,CREM,CREM,CREM,CREM,CREM,CREM,CREM,CREM,CREM,CREM,CREM,CREM,CREM,CREM,CREM,CREM,CREM EXON Missense_K161R,Silent,Missense_K98R,Silent,Silent,Silent,Missense_K282R,Missense_K203R,Silent,Silent,Missense_K252R,Missense_K189R,Missense_K264R,Missense_K164R,Missense_K227R,Missense_K120R,Silent,Silent,Missense_K91R,Missense_K103R,Silent,Missense_K107R,Silent,Silent,Silent,Missense_K95R exm1679409 10 35500694 [A/C] NM_001267562,NM_183013,NM_001267563,NR_051973,NR_051974,NR_051975,NM_181571,NM_183060,NM_183011,NM_183012,NM_182771,NM_182772,NM_001267564,NM_182770,NM_182769,NM_001267567,NM_182720,NM_182717,NM_182718,NM_182719,NR_051971,NM_001267570,NR_051972,NM_182721,NM_182723,NM_182724 CREM,CREM,CREM,CREM,CREM,CREM,CREM,CREM,CREM,CREM,CREM,CREM,CREM,CREM,CREM,CREM,CREM,CREM,CREM,CREM,CREM,CREM,CREM,CREM,CREM,CREM EXON Missense_T168N,Silent,Missense_T105N,Silent,Silent,Silent,Missense_T289N,Missense_T210N,Silent,Silent,Missense_T259N,Missense_T196N,Missense_T271N,Missense_T171N,Missense_T234N,Missense_T127N,Silent,Silent,Missense_T98N,Missense_T110N,Silent,Missense_T114N,Silent,Silent,Silent,Missense_T102N exm-rs12242110 10 35535695 [A/G] exm-rs12261843 10 35554054 [T/G] NM_181698 CCNY Silent exm2271275 10 35671151 [T/C] NM_181698,NM_145012 CCNY,CCNY Silent,Silent exm2267090 10 35724454 [A/G] NM_181698,NM_145012 CCNY,CCNY Silent,Silent exm819397 10 35772405 [T/C] NM_181698,NM_145012 CCNY,CCNY EXON Synonymous_D22D,Synonymous_D76D exm819398 10 35805452 [A/G] NM_181698,NM_145012 CCNY,CCNY EXON Missense_H35R,Missense_H89R exm819421 10 35858021 [A/G] NM_181698,NM_145012 CCNY,CCNY EXON Missense_R263G,Missense_R317G exm1679443 10 35858030 [A/G] NM_181698,NM_145012 CCNY,CCNY EXON Missense_A266T,Missense_A320T exm819426 10 35858073 [A/G] NM_181698,NM_145012 CCNY,CCNY EXON Missense_R280Q,Missense_R334Q exm1679444 10 35894560 [A/G] NM_153368 GJD4 Silent exm819437 10 35896571 [A/G] NM_153368 GJD4 EXON Missense_V44I exm819445 10 35896710 [T/C] NM_153368 GJD4 EXON Missense_A90V exm819458 10 35896892 [A/C] NM_153368 GJD4 EXON Missense_T151P exm819495 10 35897304 [T/C] NM_153368 GJD4 EXON Missense_T288M exm819509 10 35897513 [A/G] NM_153368 GJD4 EXON Missense_G358S exm819596 10 35930326 [A/G] NM_031866 FZD8 EXON Missense_S11L exm2267091 10 35980025 [A/G] exm2264385 10 36379503 [A/C] exm-rs1779876 10 36648040 [T/G] exm2249216 10 36727213 [A/G] exm2259586 10 37074863 [A/G] exm2266983 10 37323786 [A/G] exm819616 10 37414929 [T/C] NM_052997 ANKRD30A EXON Nonsense_Q16X exm819622 10 37418912 [A/G] NM_052997 ANKRD30A EXON Missense_E49K exm819628 10 37419218 [T/C] NM_052997 ANKRD30A EXON Missense_T85M exm819633 10 37421199 [T/C] NM_052997 ANKRD30A EXON Missense_T125M exm819644 10 37422934 [A/G] NM_052997 ANKRD30A EXON Missense_I180M exm2217145 10 37422945 [C/G] NM_052997 ANKRD30A EXON Missense_T184S exm2217146 10 37430747 [T/C] NM_052997 ANKRD30A EXON Missense_P252S exm819659 10 37430875 [C/G] NM_052997 ANKRD30A EXON Missense_F294L exm819660 10 37430910 [T/C] NM_052997 ANKRD30A EXON Missense_T306M exm819665 10 37430978 [T/C] NM_052997 ANKRD30A EXON Missense_W329R exm819666 10 37431020 [A/G] NM_052997 ANKRD30A EXON Missense_A343T exm819668 10 37431045 [T/C] NM_052997 ANKRD30A EXON Missense_T351M exm819690 10 37433983 [T/G] NM_052997 ANKRD30A EXON Missense_R429L exm819700 10 37438587 [A/G] NM_052997 ANKRD30A EXON Missense_K462E exm819749 10 37451705 [A/C] NM_052997 ANKRD30A EXON Missense_P588H exm2217150 10 37454079 [A/C] NM_052997 ANKRD30A EXON Missense_T631N exm819787 10 37482114 [T/G] NM_052997 ANKRD30A EXON Missense_A792S exm819788 10 37482118 [A/C] NM_052997 ANKRD30A EXON Missense_P793H exm819824 10 37505141 [A/G] NM_052997 ANKRD30A EXON Missense_V912I exm819827 10 37505159 [A/G] NM_052997 ANKRD30A EXON Missense_A918T exm819828 10 37505165 [A/G] NM_052997 ANKRD30A EXON Missense_E920K exm819830 10 37505192 [T/C] NM_052997 ANKRD30A EXON Missense_R929C exm819832 10 37505242 [C/G] NM_052997 ANKRD30A EXON Missense_K945N exm819840 10 37506718 [C/G] NM_052997 ANKRD30A EXON Missense_R1004T exm819841 10 37506732 [A/G] NM_052997 ANKRD30A EXON Missense_V1009M exm819856 10 37508038 [T/C] NM_052997 ANKRD30A EXON Missense_F1077S exm819865 10 37508256 [G/C] NM_052997 ANKRD30A EXON Missense_V1150L exm819869 10 37508365 [T/C] NM_052997 ANKRD30A EXON Missense_T1186M exm-rs1148259 10 37508450 [A/C] NM_052997 ANKRD30A EXON Synonymous_A1214A exm819877 10 37508503 [A/G] NM_052997 ANKRD30A EXON Missense_Q1232R exm2271392 10 37559338 [T/C] exm-rs1200821 10 37559580 [A/G] exm2249218 10 37976990 [A/G] exm-rs7474896 10 37982097 [T/C] exm819913 10 38121242 [A/C] NM_001267607,NM_001267605,NM_001267597,NM_021045,NM_001267606 ZNF248,ZNF248,ZNF248,ZNF248,ZNF248 EXON Silent,Silent,Missense_M347I,Missense_M347I,Silent exm819924 10 38121630 [T/C] NM_001267607,NM_001267605,NM_001267597,NM_021045,NM_001267606 ZNF248,ZNF248,ZNF248,ZNF248,ZNF248 EXON Silent,Silent,Missense_K218R,Missense_K218R,Silent exm819925 10 38121631 [T/C] NM_001267607,NM_001267605,NM_001267597,NM_021045,NM_001267606 ZNF248,ZNF248,ZNF248,ZNF248,ZNF248 EXON Silent,Silent,Missense_K218E,Missense_K218E,Silent exm819927 10 38121682 [A/G] NM_001267607,NM_001267605,NM_001267597,NM_021045,NM_001267606 ZNF248,ZNF248,ZNF248,ZNF248,ZNF248 EXON Silent,Silent,Missense_Y201H,Missense_Y201H,Silent exm819928 10 38121693 [T/C] NM_001267607,NM_001267605,NM_001267597,NM_021045,NM_001267606 ZNF248,ZNF248,ZNF248,ZNF248,ZNF248 EXON Silent,Silent,Missense_N197S,Missense_N197S,Silent exm819940 10 38122021 [T/C] NM_001267607,NM_001267605,NM_001267597,NM_021045,NM_001267606 ZNF248,ZNF248,ZNF248,ZNF248,ZNF248 EXON Missense_V88M,Missense_V88M,Missense_V88M,Missense_V88M,Missense_V88M exm1679603 10 38122023 [T/C] NM_001267607,NM_001267605,NM_001267597,NM_021045,NM_001267606 ZNF248,ZNF248,ZNF248,ZNF248,ZNF248 EXON Missense_D87G,Missense_D87G,Missense_D87G,Missense_D87G,Missense_D87G exm819954 10 38241063 [C/G] NM_145011 ZNF25 EXON Missense_E455Q exm819955 10 38241067 [A/C] NM_145011 ZNF25 EXON Missense_N453K exm819980 10 38241741 [A/G] NM_145011 ZNF25 EXON Missense_P229S exm2274400 10 38241821 [T/C] NM_145011 ZNF25 EXON Missense_Y202C exm819989 10 38241920 [A/G] NM_145011 ZNF25 EXON Missense_T169M exm820004 10 38245959 [T/C] NM_145011 ZNF25 EXON Missense_R76Q exm820005 10 38245960 [A/G] NM_145011 ZNF25 EXON Missense_R76W exm820037 10 38343396 [T/C] NM_006974,NM_006954 ZNF33A,ZNF33A EXON Missense_T114I,Missense_T115I exm820038 10 38343398 [A/G] NM_006974,NM_006954 ZNF33A,ZNF33A EXON Missense_K115E,Missense_K116E exm820045 10 38343475 [T/G] NM_006974,NM_006954 ZNF33A,ZNF33A EXON Missense_Q140H,Missense_Q141H exm2276925 10 38343614 [G/C] NM_006974,NM_006954 ZNF33A,ZNF33A EXON Missense_Q187E,Missense_Q188E exm820051 10 38343648 [T/C] NM_006974,NM_006954 ZNF33A,ZNF33A EXON Missense_T198I,Missense_T199I exm820052 10 38343679 [A/T] NM_006974,NM_006954 ZNF33A,ZNF33A EXON Missense_H208Q,Missense_H209Q exm820056 10 38343772 [G/C] NM_006974,NM_006954 ZNF33A,ZNF33A EXON Missense_E239D,Missense_E240D exm820060 10 38343858 [T/C] NM_006974,NM_006954 ZNF33A,ZNF33A EXON Missense_P268L,Missense_P269L exm820070 10 38344125 [A/G] NM_006974,NM_006954 ZNF33A,ZNF33A EXON Missense_Q357R,Missense_Q358R exm2217162 10 38344139 [A/G] NM_006974,NM_006954 ZNF33A,ZNF33A EXON Missense_E362K,Missense_E363K exm820078 10 38344302 [T/C] NM_006974,NM_006954 ZNF33A,ZNF33A EXON Missense_A416V,Missense_A417V exm820127 10 38345366 [A/G] NM_006974,NM_006954 ZNF33A,ZNF33A EXON Missense_I771V,Missense_I772V exm820129 10 38345409 [A/G] NM_006974,NM_006954 ZNF33A,ZNF33A EXON Missense_Q785R,Missense_Q786R exm820132 10 38345465 [G/C] NM_006974,NM_006954 ZNF33A,ZNF33A EXON Missense_D804H,Missense_D805H exm820133 10 38345487 [A/C] NM_006974,NM_006954 ZNF33A,ZNF33A EXON Missense_X811S,Missense_X812S exm2249221 10 38383757 [T/C] NM_001007094,NM_003421,NM_001178101 ZNF37A,ZNF37A,ZNF37A Silent,Silent,Silent exm820146 10 38404175 [T/G] NM_001007094,NM_003421,NM_001178101 ZNF37A,ZNF37A,ZNF37A EXON Missense_E65D,Missense_E65D,Missense_E65D exm820147 10 38404188 [C/G] NM_001007094,NM_003421,NM_001178101 ZNF37A,ZNF37A,ZNF37A EXON Missense_E70Q,Missense_E70Q,Missense_E70Q exm820153 10 38406359 [A/C] NM_001007094,NM_003421,NM_001178101 ZNF37A,ZNF37A,ZNF37A EXON Missense_N94H,Missense_N94H,Missense_N94H exm820154 10 38406392 [A/G] NM_001007094,NM_003421,NM_001178101 ZNF37A,ZNF37A,ZNF37A EXON Missense_D105N,Missense_D105N,Missense_D105N exm820188 10 38407131 [A/G] NM_001007094,NM_003421,NM_001178101 ZNF37A,ZNF37A,ZNF37A EXON Missense_G351E,Missense_G351E,Missense_G351E exm820191 10 38407224 [T/C] NM_001007094,NM_003421,NM_001178101 ZNF37A,ZNF37A,ZNF37A EXON Missense_P382L,Missense_P382L,Missense_P382L exm820216 10 38407745 [A/G] NM_001007094,NM_003421,NM_001178101 ZNF37A,ZNF37A,ZNF37A EXON Missense_E556K,Missense_E556K,Missense_E556K exm2267093 10 38549612 [A/G] exm2271277 10 38814815 [T/C] exm2271279 10 42503340 [T/C] exm2259592 10 43014780 [T/C] NR_026777 ZNF37BP EXON Silent exm820287 10 43088356 [A/G] NM_006955 ZNF33B EXON Missense_I681T exm820296 10 43088564 [T/G] NM_006955 ZNF33B EXON Missense_N612H exm820320 10 43089016 [C/G] NM_006955 ZNF33B EXON Missense_R461T exm820336 10 43089278 [T/C] NM_006955 ZNF33B EXON Missense_K374E exm820340 10 43089331 [T/C] NM_006955 ZNF33B EXON Missense_H356R exm820350 10 43089506 [T/C] NM_006955 ZNF33B EXON Missense_V298M exm820358 10 43089689 [A/G] NM_006955 ZNF33B EXON Missense_R237W exm820363 10 43089750 [G/C] NM_006955 ZNF33B EXON Missense_D216E exm820364 10 43089775 [T/G] NM_006955 ZNF33B EXON Missense_Q208P exm820368 10 43089809 [T/C] NM_006955 ZNF33B EXON Missense_R197G exm820373 10 43089965 [A/G] NM_006955 ZNF33B EXON Missense_R145C exm820376 10 43090010 [T/C] NM_006955 ZNF33B EXON Missense_V130I exm820394 10 43127876 [A/C] NM_006955 ZNF33B EXON Missense_K7N exm2249228 10 43149991 [T/C] exm1679805 10 43281013 [T/C] NM_014753 BMS1 EXON Missense_V87A exm820417 10 43281069 [T/C] NM_014753 BMS1 EXON Missense_F106L exm820438 10 43287175 [T/C] NM_014753 BMS1 EXON Missense_P246L exm820440 10 43287198 [G/C] NM_014753 BMS1 EXON Missense_P254A exm820454 10 43288455 [A/G] NM_014753 BMS1 EXON Missense_A318T exm820462 10 43288591 [A/G] NM_014753 BMS1 EXON Missense_Q363R exm820472 10 43291947 [C/G] NM_014753 BMS1 EXON Missense_Q419E exm820483 10 43292337 [A/G] NM_014753 BMS1 EXON Missense_A549T exm2217178 10 43292346 [T/C] NM_014753 BMS1 EXON Missense_S552P exm820489 10 43292451 [G/C] NM_014753 BMS1 EXON Missense_V587L exm820492 10 43292542 [T/C] NM_014753 BMS1 EXON Missense_L617P exm1679832 10 43292568 [A/G] NM_014753 BMS1 EXON Missense_G626S exm820494 10 43292615 [A/G] NM_014753 BMS1 EXON Missense_I641M exm820495 10 43292647 [A/G] NM_014753 BMS1 EXON Missense_K652R exm820501 10 43292902 [A/G] NM_014753 BMS1 EXON Missense_K674E exm820517 10 43297639 [A/G] NM_014753 BMS1 EXON Missense_D768N exm820525 10 43312113 [A/G] NM_014753 BMS1 EXON Missense_N799S exm2249229 10 43312807 [T/C] NM_014753 BMS1 EXON Synonymous_P815P exm820533 10 43315691 [A/G] NM_014753 BMS1 EXON Missense_R863H exm1679867 10 43326351 [C/G] NM_014753 BMS1 EXON Missense_S1219T exm-rs2142991 10 43341105 [T/C] exm2271281 10 43420922 [T/C] exm820606 10 43595999 [A/C] NM_020975,NM_020630 RET,RET EXON Missense_L56M,Missense_L56M exm820609 10 43596033 [A/G] NM_020975,NM_020630 RET,RET EXON Missense_R67H,Missense_R67H exm820617 10 43597793 [A/G] NM_020975,NM_020630 RET,RET EXON Missense_R114H,Missense_R114H exm2217187 10 43600607 [A/C] NM_020975,NM_020630 RET,RET EXON Missense_T278N,Missense_T278N exm2217188 10 43601830 [A/G] NM_020975,NM_020630 RET,RET EXON Missense_V292M,Missense_V292M exm820660 10 43604518 [A/G] NM_020975,NM_020630 RET,RET EXON Missense_R368H,Missense_R368H exm820663 10 43604572 [T/C] NM_020975,NM_020630 RET,RET EXON Missense_A386V,Missense_A386V exm820672 10 43606727 [C/G] NM_020975,NM_020630 RET,RET EXON Missense_G446R,Missense_G446R exm820674 10 43606745 [A/C] NM_020975,NM_020630 RET,RET EXON Missense_L452I,Missense_L452I exm820680 10 43607553 [T/C] NM_020975,NM_020630 RET,RET EXON Missense_A510V,Missense_A510V exm820681 10 43607555 [A/G] NM_020975,NM_020630 RET,RET EXON Missense_E511K,Missense_E511K exm820700 10 43609122 [A/G] NM_020975,NM_020630 RET,RET EXON Synonymous_Q626Q,Synonymous_Q626Q exm820708 10 43609994 [T/C] NM_020975,NM_020630 RET,RET EXON Missense_S649L,Missense_S649L exm820710 10 43610046 [T/G] NM_020975,NM_020630 RET,RET EXON Missense_K666N,Missense_K666N exm820715 10 43610119 [A/G] NM_020975,NM_020630 RET,RET EXON Missense_G691S,Missense_G691S exm820716 10 43610129 [A/G] NM_020975,NM_020630 RET,RET EXON Missense_R694Q,Missense_R694Q exm-rs2742234 10 43612609 [T/C] NM_020975,NM_020630 RET,RET Silent,Silent exm820737 10 43615108 [T/C] NM_020975,NM_020630 RET,RET EXON Missense_P841L,Missense_P841L exm820746 10 43615187 [T/G] NM_020975,NM_020630 RET,RET EXON Missense_E867D,Missense_E867D exm820763 10 43620335 [T/C] NM_020975,NM_020630 RET,RET EXON Missense_R982C,Missense_R982C exm820776 10 43622095 [A/G] NM_020975,NM_020630 RET,RET EXON Missense_T1038A,Missense_T1038A exm820797 10 43650736 [G/C] NM_018590 CSGALNACT2 EXON Missense_V47L exm1679951 10 43650944 [G/C] NM_018590 CSGALNACT2 EXON Missense_A116G exm820811 10 43651091 [A/G] NM_018590 CSGALNACT2 EXON Missense_R165H exm820817 10 43651204 [C/G] NM_018590 CSGALNACT2 EXON Missense_E203Q exm820829 10 43659382 [A/C] NM_018590 CSGALNACT2 EXON Missense_N350T exm820838 10 43662491 [A/G] NM_018590 CSGALNACT2 EXON Missense_N400S exm820868 10 43692510 [A/C] NM_145313 RASGEF1A EXON Missense_M421R exm820873 10 43693637 [A/T] NM_145313 RASGEF1A EXON Missense_M347L exm820919 10 43701471 [T/C] NM_145313 RASGEF1A EXON Missense_G32S exm820921 10 43701503 [T/C] NM_145313 RASGEF1A EXON Missense_Q21R exm-rs2503875 10 43814049 [A/G] exm820926 10 43869097 [A/C] NM_001184963,NM_173160 FXYD4,FXYD4 EXON Silent,Silent exm820943 10 43871158 [A/G] NM_001184963,NM_173160 FXYD4,FXYD4 EXON Missense_C63Y,Missense_C63Y exm820986 10 43882669 [T/C] NM_001098207,NM_001098206,NM_004966,NM_001098205,NM_001098208,NM_001098204 HNRNPF,HNRNPF,HNRNPF,HNRNPF,HNRNPF,HNRNPF EXON Missense_I222V,Missense_I222V,Missense_I222V,Missense_I222V,Missense_I222V,Missense_I222V exm1680020 10 43882723 [T/C] NM_001098207,NM_001098206,NM_004966,NM_001098205,NM_001098208,NM_001098204 HNRNPF,HNRNPF,HNRNPF,HNRNPF,HNRNPF,HNRNPF EXON Missense_V204M,Missense_V204M,Missense_V204M,Missense_V204M,Missense_V204M,Missense_V204M exm820996 10 43883034 [T/C] NM_001098207,NM_001098206,NM_004966,NM_001098205,NM_001098208,NM_001098204 HNRNPF,HNRNPF,HNRNPF,HNRNPF,HNRNPF,HNRNPF EXON Missense_S100N,Missense_S100N,Missense_S100N,Missense_S100N,Missense_S100N,Missense_S100N exm2249234 10 43883044 [A/G] NM_001098207,NM_001098206,NM_004966,NM_001098205,NM_001098208,NM_001098204 HNRNPF,HNRNPF,HNRNPF,HNRNPF,HNRNPF,HNRNPF EXON Synonymous_L97L,Synonymous_L97L,Synonymous_L97L,Synonymous_L97L,Synonymous_L97L,Synonymous_L97L exm821001 10 43883222 [A/G] NM_001098207,NM_001098206,NM_004966,NM_001098205,NM_001098208,NM_001098204 HNRNPF,HNRNPF,HNRNPF,HNRNPF,HNRNPF,HNRNPF EXON Synonymous_H37H,Synonymous_H37H,Synonymous_H37H,Synonymous_H37H,Synonymous_H37H,Synonymous_H37H exm2249235 10 43883222 [A/G] NM_001098207,NM_001098206,NM_004966,NM_001098205,NM_001098208,NM_001098204 HNRNPF,HNRNPF,HNRNPF,HNRNPF,HNRNPF,HNRNPF EXON Synonymous_H37H,Synonymous_H37H,Synonymous_H37H,Synonymous_H37H,Synonymous_H37H,Synonymous_H37H exm2266986 10 44046676 [A/G] exm821018 10 44052395 [T/C] NM_001099282,NM_005674,NM_001099284,NM_001099283 ZNF239,ZNF239,ZNF239,ZNF239 EXON Missense_Y378C,Missense_Y378C,Missense_Y378C,Missense_Y378C exm821020 10 44052431 [T/C] NM_001099282,NM_005674,NM_001099284,NM_001099283 ZNF239,ZNF239,ZNF239,ZNF239 EXON Missense_R366Q,Missense_R366Q,Missense_R366Q,Missense_R366Q exm1680028 10 44052513 [A/G] NM_001099282,NM_005674,NM_001099284,NM_001099283 ZNF239,ZNF239,ZNF239,ZNF239 EXON Nonsense_R339X,Nonsense_R339X,Nonsense_R339X,Nonsense_R339X exm1680030 10 44052728 [T/C] NM_001099282,NM_005674,NM_001099284,NM_001099283 ZNF239,ZNF239,ZNF239,ZNF239 EXON Missense_K267R,Missense_K267R,Missense_K267R,Missense_K267R exm821043 10 44052744 [C/G] NM_001099282,NM_005674,NM_001099284,NM_001099283 ZNF239,ZNF239,ZNF239,ZNF239 EXON Missense_P262A,Missense_P262A,Missense_P262A,Missense_P262A exm821047 10 44052903 [A/C] NM_001099282,NM_005674,NM_001099284,NM_001099283 ZNF239,ZNF239,ZNF239,ZNF239 EXON Missense_C209G,Missense_C209G,Missense_C209G,Missense_C209G exm821049 10 44052995 [G/C] NM_001099282,NM_005674,NM_001099284,NM_001099283 ZNF239,ZNF239,ZNF239,ZNF239 EXON Missense_P178R,Missense_P178R,Missense_P178R,Missense_P178R exm821051 10 44053013 [C/G] NM_001099282,NM_005674,NM_001099284,NM_001099283 ZNF239,ZNF239,ZNF239,ZNF239 EXON Missense_A172G,Missense_A172G,Missense_A172G,Missense_A172G exm821056 10 44053193 [A/C] NM_001099282,NM_005674,NM_001099284,NM_001099283 ZNF239,ZNF239,ZNF239,ZNF239 EXON Missense_C112F,Missense_C112F,Missense_C112F,Missense_C112F exm821063 10 44053340 [T/C] NM_001099282,NM_005674,NM_001099284,NM_001099283 ZNF239,ZNF239,ZNF239,ZNF239 EXON Missense_Y63C,Missense_Y63C,Missense_Y63C,Missense_Y63C exm821065 10 44053362 [T/C] NM_001099282,NM_005674,NM_001099284,NM_001099283 ZNF239,ZNF239,ZNF239,ZNF239 EXON Missense_E56K,Missense_E56K,Missense_E56K,Missense_E56K exm821068 10 44053451 [T/C] NM_001099282,NM_005674,NM_001099284,NM_001099283 ZNF239,ZNF239,ZNF239,ZNF239 EXON Missense_D26G,Missense_D26G,Missense_D26G,Missense_D26G exm821070 10 44053482 [A/G] NM_001099282,NM_005674,NM_001099284,NM_001099283 ZNF239,ZNF239,ZNF239,ZNF239 EXON Nonsense_R16X,Nonsense_R16X,Nonsense_R16X,Nonsense_R16X exm821071 10 44053517 [A/G] NM_001099282,NM_005674,NM_001099284,NM_001099283 ZNF239,ZNF239,ZNF239,ZNF239 EXON Missense_T4I,Missense_T4I,Missense_T4I,Missense_T4I exm821078 10 44104090 [T/G] NM_145312 ZNF485 EXON Missense_V18G exm821079 10 44104101 [T/C] NM_145312 ZNF485 EXON Missense_R22W exm821094 10 44111808 [A/G] NM_145312 ZNF485 EXON Missense_G106E exm821096 10 44111828 [A/G] NM_145312 ZNF485 EXON Missense_M113V exm821098 10 44111885 [T/G] NM_145312 ZNF485 EXON Missense_C132G exm821100 10 44111901 [A/G] NM_145312 ZNF485 EXON Missense_K137R exm821107 10 44112119 [A/G] NM_145312 ZNF485 EXON Missense_R210G exm1680050 10 44112219 [A/G] NM_145312 ZNF485 EXON Missense_K243R exm821113 10 44112245 [A/G] NM_145312 ZNF485 EXON Missense_A252T exm821128 10 44112702 [A/G] NM_145312 ZNF485 EXON Missense_H404R exm821154 10 44140231 [T/C] NR_038867,NM_001005368,NM_006973,NR_047557 ZNF32-AS3,ZNF32,ZNF32,ZNF32-AS1 EXON Silent,Missense_H30R,Missense_H30R,Silent exm2266987 10 44210600 [A/G] exm-rs501120 10 44753867 [T/C] exm-rs1746048 10 44775824 [T/C] exm2271282 10 44855740 [T/C] exm821179 10 44871397 [G/C] NM_000609,NM_001033886 CXCL12,CXCL12 EXON Silent,Missense_R117T exm2274401 10 44871427 [T/C] NM_000609,NM_001033886 CXCL12,CXCL12 EXON Silent,Missense_R107Q exm821182 10 44871479 [T/C] NM_000609,NM_001033886 CXCL12,CXCL12 EXON Silent,Missense_G90R exm821187 10 44873213 [T/G] NM_000609,NM_001033886,NM_199168,NM_001178134 CXCL12,CXCL12,CXCL12,CXCL12 EXON Silent,Silent,Silent,Missense_S136Y exm821189 10 44873247 [A/G] NM_000609,NM_001033886,NM_199168,NM_001178134 CXCL12,CXCL12,CXCL12,CXCL12 EXON Silent,Silent,Silent,Missense_R125C exm821204 10 44876259 [A/G] NM_000609,NM_001033886,NM_199168,NM_001178134 CXCL12,CXCL12,CXCL12,CXCL12 EXON Missense_V44A,Missense_V44A,Missense_V44A,Missense_V44A exm-rs11239177 10 45123379 [T/C] exm-rs1480597 10 45161109 [T/C] exm-rs7911712 10 45319654 [A/G] NR_033842 TMEM72-AS1 Silent exm2266988 10 45399088 [A/G] NR_033842 TMEM72-AS1 Silent exm821217 10 45407004 [A/G] NR_033842,NM_001123376 TMEM72-AS1,TMEM72 EXON Silent,Missense_R15Q exm821219 10 45423377 [A/G] NR_033842,NM_001123376 TMEM72-AS1,TMEM72 EXON Silent,Missense_G27S exm821223 10 45427459 [A/G] NR_033842,NM_001123376 TMEM72-AS1,TMEM72 EXON Silent,Missense_A51T exm821224 10 45427469 [T/C] NR_033842,NM_001123376 TMEM72-AS1,TMEM72 EXON Silent,Missense_I54T exm821229 10 45429096 [C/G] NR_033842,NM_001123376 TMEM72-AS1,TMEM72 EXON Silent,Missense_G74A exm821252 10 45430328 [A/G] NR_033842,NM_001123376 TMEM72-AS1,TMEM72 EXON Silent,Missense_G192R exm821254 10 45430394 [A/G] NR_033842,NM_001123376 TMEM72-AS1,TMEM72 EXON Silent,Missense_D214N exm821264 10 45430571 [A/G] NR_033842,NM_001123376 TMEM72-AS1,TMEM72 EXON Silent,Missense_G273S exm821269 10 45465678 [T/C] NM_032023 RASSF4 EXON Missense_H10Y exm1680098 10 45467247 [T/C] NM_032023 RASSF4 EXON Missense_T30I exm1680104 10 45472899 [A/G] NM_032023,NM_007021 RASSF4,C10orf10 EXON Silent,Missense_R194C exm1680109 10 45473220 [T/C] NM_032023,NM_007021 RASSF4,C10orf10 EXON Silent,Missense_A87T exm821305 10 45473249 [T/C] NM_032023,NM_007021 RASSF4,C10orf10 EXON Silent,Missense_R77H exm821306 10 45473250 [A/G] NM_032023,NM_007021 RASSF4,C10orf10 EXON Silent,Missense_R77C exm821307 10 45473295 [A/G] NM_032023,NM_007021 RASSF4,C10orf10 EXON Silent,Nonsense_Q62X exm821310 10 45473343 [A/G] NM_032023,NM_007021 RASSF4,C10orf10 EXON Silent,Nonsense_R46X exm821316 10 45473428 [A/C] NM_032023,NM_007021 RASSF4,C10orf10 EXON Silent,Missense_E17D exm821317 10 45473432 [T/C] NM_032023,NM_007021 RASSF4,C10orf10 EXON Silent,Missense_R16Q exm821325 10 45478015 [A/G] NM_032023 RASSF4 EXON Missense_G62E exm821327 10 45478042 [T/G] NM_032023 RASSF4 EXON Missense_M71R exm821329 10 45478044 [G/C] NM_032023 RASSF4 EXON Missense_Q72E exm821331 10 45478054 [T/G] NM_032023 RASSF4 EXON Missense_R75L exm821333 10 45478092 [A/G] NM_032023 RASSF4 EXON Missense_R88G exm821335 10 45478096 [A/G] NM_032023 RASSF4 EXON Missense_R89Q exm821357 10 45480350 [A/G] NM_032023 RASSF4 EXON Missense_A155T exm821358 10 45480356 [A/G] NM_032023 RASSF4 EXON Missense_G157S exm821359 10 45480361 [C/G] NM_032023 RASSF4 EXON Missense_E158D exm821361 10 45480369 [A/G] NM_032023 RASSF4 EXON Missense_R161H exm821365 10 45480378 [A/G] NM_032023 RASSF4 EXON Missense_R164Q exm821377 10 45486414 [A/G] NM_032023 RASSF4 EXON Missense_D235G exm821390 10 45487381 [T/C] NM_032023 RASSF4 EXON Missense_P279L exm821405 10 45495863 [T/G] NM_001039380 C10orf25 EXON Missense_A111D exm821413 10 45496120 [A/T] NM_001039380 C10orf25 EXON Missense_I63N exm821414 10 45496126 [A/G] NM_001039380 C10orf25 EXON Missense_P61L exm821417 10 45496182 [C/G] NM_001039380 C10orf25 EXON Missense_W42C exm821418 10 45496195 [T/C] NM_001039380 C10orf25 EXON Missense_R38H exm821421 10 45496244 [C/G] NM_001039380 C10orf25 EXON Missense_P22A exm1680144 10 45498875 [A/G] NM_006963 ZNF22 EXON Missense_Y20C exm821431 10 45499009 [A/G] NM_006963 ZNF22 EXON Missense_S65G exm821436 10 45499301 [A/C] NM_006963 ZNF22 EXON Missense_T162N exm821439 10 45499378 [A/G] NM_006963 ZNF22 EXON Missense_V188M exm821451 10 45798918 [A/G] NM_001004297 OR13A1 EXON Missense_A318V exm821452 10 45798933 [T/C] NM_001004297 OR13A1 EXON Missense_K313R exm821458 10 45799012 [T/C] NM_001004297 OR13A1 EXON Missense_G287R exm821465 10 45799107 [G/C] NM_001004297 OR13A1 EXON Missense_A255G exm821467 10 45799120 [T/C] NM_001004297 OR13A1 EXON Missense_G251R exm2217203 10 45799168 [A/G] NM_001004297 OR13A1 EXON Missense_S235P exm821471 10 45799195 [T/C] NM_001004297 OR13A1 EXON Missense_I226V exm821475 10 45799202 [T/G] NM_001004297 OR13A1 EXON Missense_F223L exm821477 10 45799212 [A/G] NM_001004297 OR13A1 EXON Missense_A220V exm821483 10 45799323 [T/C] NM_001004297 OR13A1 EXON Missense_R183H exm821494 10 45799393 [T/C] NM_001004297 OR13A1 EXON Missense_S160G exm821501 10 45799458 [T/C] NM_001004297 OR13A1 EXON Missense_Y138C exm821505 10 45799509 [A/G] NM_001004297 OR13A1 EXON Missense_F121S exm821507 10 45799527 [A/C] NM_001004297 OR13A1 EXON Missense_C115F exm821508 10 45799534 [T/C] NM_001004297 OR13A1 EXON Missense_G113R exm2249241 10 45799646 [A/C] NM_001004297 OR13A1 EXON Synonymous_A75A exm821519 10 45799728 [C/G] NM_001004297 OR13A1 EXON Missense_C48S exm821534 10 45877946 [A/G] NM_000698,NM_001256153,NM_001256154 ALOX5,ALOX5,ALOX5 EXON Missense_V56M,Missense_V56M,Missense_V56M exm2249242 10 45878050 [A/G] NM_000698,NM_001256153,NM_001256154 ALOX5,ALOX5,ALOX5 EXON Synonymous_T90T,Synonymous_T90T,Synonymous_T90T exm2249243 10 45878098 [T/C] NM_000698,NM_001256153,NM_001256154 ALOX5,ALOX5,ALOX5 EXON Synonymous_G106G,Synonymous_G106G,Synonymous_G106G exm1680169 10 45878098 [T/C] NM_000698,NM_001256153,NM_001256154 ALOX5,ALOX5,ALOX5 EXON Synonymous_G106G,Synonymous_G106G,Synonymous_G106G exm821544 10 45891311 [T/G] NM_000698,NM_001256153,NM_001256154 ALOX5,ALOX5,ALOX5 EXON Missense_A120S,Missense_A120S,Missense_A120S exm821547 10 45891350 [T/C] NM_000698,NM_001256153,NM_001256154 ALOX5,ALOX5,ALOX5 EXON Missense_R133C,Missense_R133C,Missense_R133C exm821558 10 45920485 [T/C] NM_000698,NM_001256153,NM_001256154 ALOX5,ALOX5,ALOX5 EXON Missense_R247W,Missense_R247W,Missense_R247W exm821560 10 45920506 [A/G] NM_000698,NM_001256153,NM_001256154 ALOX5,ALOX5,ALOX5 EXON Missense_E254K,Missense_E254K,Missense_E254K exm821572 10 45935882 [A/G] NM_000698,NM_001256153,NM_001256154 ALOX5,ALOX5,ALOX5 EXON Missense_N329S,Missense_N329S,Missense_N329S exm821575 10 45935905 [T/C] NM_000698,NM_001256153,NM_001256154 ALOX5,ALOX5,ALOX5 EXON Missense_P337S,Missense_P337S,Missense_P337S exm2217204 10 45936836 [C/G] NM_000698,NM_001256153,NM_001256154 ALOX5,ALOX5,ALOX5 EXON Missense_K410N,Missense_K410N,Missense_K410N exm821631 10 45941052 [A/G] NM_000698,NM_001256153,NM_001256154 ALOX5,ALOX5,ALOX5 EXON Missense_V648M,Missense_V616M,Missense_V591M exm821634 10 45941076 [A/C] NM_000698,NM_001256153,NM_001256154 ALOX5,ALOX5,ALOX5 EXON Missense_K656Q,Missense_K624Q,Missense_K599Q exm821645 10 45953767 [A/G] NM_145021,NM_001002265,NM_001002266 MARCH8,MARCH8,MARCH8 EXON Missense_Y266H,Missense_Y266H,Missense_Y266H exm-rs2279434 10 45955064 [T/C] NM_145021,NM_001002265,NM_001002266 MARCH8,MARCH8,MARCH8 Silent,Silent,Silent exm821684 10 45959729 [A/G] NM_145021,NM_001002265,NM_001002266 MARCH8,MARCH8,MARCH8 EXON Missense_F67S,Missense_F67S,Missense_F67S exm821688 10 45959762 [A/G] NM_145021,NM_001002265,NM_001002266 MARCH8,MARCH8,MARCH8 EXON Missense_P56L,Missense_P56L,Missense_P56L exm-rs10900221 10 45988597 [A/G] NM_145021,NM_001002265,NM_001002266 MARCH8,MARCH8,MARCH8 Silent,Silent,Silent exm-rs970548 10 46013277 [A/C] NM_145021,NM_001002265,NM_001002266 MARCH8,MARCH8,MARCH8 Silent,Silent,Silent exm2266989 10 46024620 [A/G] NM_145021,NM_001002265,NM_001002266 MARCH8,MARCH8,MARCH8 Silent,Silent,Silent exm-rs11239550 10 46024729 [A/G] NM_145021,NM_001002265,NM_001002266 MARCH8,MARCH8,MARCH8 Silent,Silent,Silent exm821694 10 46028599 [C/G] NM_145021,NM_001002265,NM_001002266 MARCH8,MARCH8,MARCH8 EXON Missense_V21L,Missense_V21L,Missense_V21L exm821695 10 46028610 [A/G] NM_145021,NM_001002265,NM_001002266 MARCH8,MARCH8,MARCH8 EXON Missense_I17T,Missense_I17T,Missense_I17T exm2217205 10 46111039 [T/C] NM_001128324,NM_174890 ZFAND4,ZFAND4 EXON Silent,Silent exm821701 10 46111895 [A/G] NM_001128324,NM_174890 ZFAND4,ZFAND4 EXON Missense_P725S,Missense_P725S exm821704 10 46111951 [T/C] NM_001128324,NM_174890 ZFAND4,ZFAND4 EXON Missense_S706N,Missense_S706N exm821708 10 46113607 [A/C] NM_001128324,NM_174890 ZFAND4,ZFAND4 EXON Missense_A677S,Missense_A677S exm821720 10 46121398 [A/C] NM_001128324,NM_174890 ZFAND4,ZFAND4 Silent,Silent exm821725 10 46121515 [G/C] NM_001128324,NM_174890 ZFAND4,ZFAND4 EXON Missense_R586G,Missense_R586G exm821727 10 46121542 [A/T] NM_001128324,NM_174890 ZFAND4,ZFAND4 EXON Missense_T577S,Missense_T577S exm821728 10 46121548 [T/C] NM_001128324,NM_174890 ZFAND4,ZFAND4 EXON Missense_G575R,Missense_G575R exm821731 10 46121607 [T/C] NM_001128324,NM_174890 ZFAND4,ZFAND4 EXON Missense_K555R,Missense_K555R exm821733 10 46121632 [A/G] NM_001128324,NM_174890 ZFAND4,ZFAND4 EXON Missense_R547W,Missense_R547W exm821736 10 46121704 [T/C] NM_001128324,NM_174890 ZFAND4,ZFAND4 EXON Missense_T523A,Missense_T523A exm821743 10 46121854 [A/C] NM_001128324,NM_174890 ZFAND4,ZFAND4 EXON Missense_S473A,Missense_S473A exm821744 10 46121886 [T/C] NM_001128324,NM_174890 ZFAND4,ZFAND4 EXON Missense_R462Q,Missense_R462Q exm821745 10 46121887 [A/G] NM_001128324,NM_174890 ZFAND4,ZFAND4 EXON Missense_R462W,Missense_R462W exm1680235 10 46122051 [T/C] NM_001128324,NM_174890 ZFAND4,ZFAND4 EXON Missense_G407E,Missense_G407E exm821751 10 46122067 [A/C] NM_001128324,NM_174890 ZFAND4,ZFAND4 EXON Missense_A402S,Missense_A402S exm821754 10 46122195 [A/T] NM_001128324,NM_174890 ZFAND4,ZFAND4 EXON Missense_L359H,Missense_L359H exm821755 10 46122199 [A/G] NM_001128324,NM_174890 ZFAND4,ZFAND4 EXON Missense_H358Y,Missense_H358Y exm821759 10 46122268 [T/C] NM_001128324,NM_174890 ZFAND4,ZFAND4 EXON Missense_V335I,Missense_V335I exm821763 10 46122370 [T/C] NM_001128324,NM_174890 ZFAND4,ZFAND4 EXON Missense_T301A,Missense_T301A exm821765 10 46122403 [T/C] NM_001128324,NM_174890 ZFAND4,ZFAND4 EXON Missense_E290K,Missense_E290K exm821777 10 46135376 [A/T] NM_001128324,NM_174890 ZFAND4,ZFAND4 EXON Missense_D202V,Missense_D202V exm821779 10 46135407 [G/C] NM_001128324,NM_174890 ZFAND4,ZFAND4 EXON Missense_G192R,Missense_G192R exm821788 10 46143958 [T/G] NM_001128324,NM_174890 ZFAND4,ZFAND4 EXON Missense_K118T,Missense_K118T exm2217206 10 46159023 [T/C] NM_001128324,NM_174890 ZFAND4,ZFAND4 EXON Missense_I51V,Missense_I51V exm821805 10 46159086 [A/G] NM_001128324,NM_174890 ZFAND4,ZFAND4 EXON Missense_L30F,Missense_L30F exm821809 10 46159151 [A/G] NM_001128324,NM_174890 ZFAND4,ZFAND4 EXON Missense_P8L,Missense_P8L exm821830 10 46242069 [T/C] NM_001169106,NM_015262,NM_001169107 FAM21C,FAM21C,FAM21C EXON Missense_H236Y,Missense_H236Y,Missense_H236Y exm821963 10 46964021 [T/C] NM_181519,NM_031912 SYT15,SYT15 Silent,Silent exm821966 10 46965017 [T/C] NM_181519,NM_031912 SYT15,SYT15 EXON Missense_D310N,Missense_D310N exm821978 10 46965115 [A/G] NM_181519,NM_031912 SYT15,SYT15 EXON Missense_S277L,Missense_S277L exm821979 10 46965119 [C/G] NM_181519,NM_031912 SYT15,SYT15 EXON Missense_P276A,Missense_P276A exm821981 10 46965747 [T/C] NM_181519,NM_031912 SYT15,SYT15 EXON Missense_I264V,Missense_I264V exm821982 10 46965755 [T/C] NM_181519,NM_031912 SYT15,SYT15 EXON Missense_R261Q,Missense_R261Q exm821986 10 46965777 [T/C] NM_181519,NM_031912 SYT15,SYT15 EXON Missense_E254K,Missense_E254K exm821987 10 46965803 [T/C] NM_181519,NM_031912 SYT15,SYT15 EXON Missense_G245D,Missense_G245D exm821989 10 46965833 [A/G] NM_181519,NM_031912 SYT15,SYT15 EXON Missense_V235A,Missense_V235A exm821993 10 46965843 [T/C] NM_181519,NM_031912 SYT15,SYT15 EXON Missense_V232I,Missense_V232I exm821997 10 46965864 [C/G] NM_181519,NM_031912 SYT15,SYT15 EXON Missense_Q225E,Missense_Q225E exm1680312 10 46965875 [T/C] NM_181519,NM_031912 SYT15,SYT15 EXON Missense_K221R,Missense_K221R exm821999 10 46965881 [A/G] NM_181519,NM_031912 SYT15,SYT15 EXON Missense_S219F,Missense_S219F exm822006 10 46967470 [A/G] NM_181519,NM_031912 SYT15,SYT15 EXON Missense_R203C,Missense_R203C exm822012 10 46967544 [A/G] NM_181519,NM_031912 SYT15,SYT15 EXON Missense_S178L,Missense_S178L exm822015 10 46967616 [A/G] NM_181519,NM_031912 SYT15,SYT15 EXON Missense_S154L,Missense_S154L exm822017 10 46967641 [G/C] NM_181519,NM_031912 SYT15,SYT15 EXON Missense_G146R,Missense_G146R exm822027 10 46968630 [G/C] NM_181519,NM_031912 SYT15,SYT15 EXON Missense_D102E,Missense_D102E exm822033 10 46968668 [A/G] NM_181519,NM_031912 SYT15,SYT15 EXON Missense_P90S,Missense_P90S exm822042 10 46969312 [A/G] NM_181519,NM_031912 SYT15,SYT15 EXON Missense_T50I,Missense_T50I exm1680329 10 46998873 [A/C] NM_014696 GPRIN2 Silent exm2249247 10 46998955 [T/C] NM_014696 GPRIN2 EXON Synonymous_S25S exm822059 10 46998978 [A/G] NM_014696 GPRIN2 EXON Missense_R33Q exm822063 10 46999008 [T/C] NM_014696 GPRIN2 EXON Missense_A43V exm822070 10 46999041 [A/C] NM_014696 GPRIN2 EXON Missense_E54A exm822077 10 46999067 [A/G] NM_014696 GPRIN2 EXON Missense_E63K exm822079 10 46999096 [A/G] NM_014696 GPRIN2 EXON Missense_M72I exm822081 10 46999106 [T/C] NM_014696 GPRIN2 EXON Missense_R76W exm822086 10 46999130 [T/C] NM_014696 GPRIN2 EXON Missense_P84S exm822094 10 46999209 [A/G] NM_014696 GPRIN2 EXON Missense_R110Q exm822098 10 46999289 [T/C] NM_014696 GPRIN2 EXON Missense_R137W exm822099 10 46999290 [A/G] NM_014696 GPRIN2 EXON Missense_R137Q exm822103 10 46999352 [T/C] NM_014696 GPRIN2 EXON Missense_P158S exm822106 10 46999385 [T/C] NM_014696 GPRIN2 EXON Missense_P169S exm822132 10 46999679 [A/G] NM_014696 GPRIN2 EXON Missense_E267K exm822145 10 46999778 [A/G] NM_014696 GPRIN2 EXON Missense_A300T exm822147 10 46999790 [T/C] NM_014696 GPRIN2 EXON Missense_P304S exm822153 10 46999893 [A/G] NM_014696 GPRIN2 EXON Missense_Q338R exm2249248 10 46999897 [A/G] NM_014696 GPRIN2 EXON Synonymous_A339A exm822162 10 46999947 [T/C] NM_014696 GPRIN2 EXON Missense_A356V exm822164 10 46999958 [A/C] NM_014696 GPRIN2 EXON Missense_L360M exm822170 10 47000019 [A/G] NM_014696 GPRIN2 EXON Missense_R380Q exm822194 10 47000252 [A/G] NM_014696 GPRIN2 EXON Missense_E458K exm822209 10 47086901 [A/G] NM_005972 PPYR1 EXON Missense_V40M exm822211 10 47086916 [A/G] NM_005972 PPYR1 EXON Missense_V45I exm822220 10 47087024 [A/G] NM_005972 PPYR1 EXON Missense_A81T exm822222 10 47087052 [T/C] NM_005972 PPYR1 EXON Missense_M90T exm822237 10 47087145 [A/C] NM_005972 PPYR1 EXON Missense_Q121P exm822240 10 47087160 [T/C] NM_005972 PPYR1 EXON Missense_T126M exm822241 10 47087162 [T/G] NM_005972 PPYR1 EXON Missense_V127F exm822244 10 47087180 [A/G] NM_005972 PPYR1 EXON Missense_V133I exm822247 10 47087230 [T/G] NM_005972 PPYR1 EXON Missense_W149C exm822249 10 47087244 [A/C] NM_005972 PPYR1 EXON Nonsense_S154X exm822261 10 47087390 [A/G] NM_005972 PPYR1 EXON Missense_E203K exm822273 10 47087498 [T/C] NM_005972 PPYR1 EXON Missense_R239W exm822274 10 47087499 [A/G] NM_005972 PPYR1 EXON Missense_R239Q exm822279 10 47087519 [T/C] NM_005972 PPYR1 EXON Missense_R246C exm822280 10 47087520 [A/G] NM_005972 PPYR1 EXON Missense_R246H exm822282 10 47087522 [A/G] NM_005972 PPYR1 EXON Missense_V247M exm822284 10 47087550 [A/G] NM_005972 PPYR1 EXON Missense_R256Q exm822288 10 47087594 [A/G] NM_005972 PPYR1 EXON Missense_V271M exm822290 10 47087609 [A/G] NM_005972 PPYR1 EXON Missense_V276M exm822293 10 47087643 [T/C] NM_005972 PPYR1 EXON Missense_L287P exm822299 10 47087692 [G/C] NM_005972 PPYR1 EXON Missense_I303M exm822303 10 47087735 [A/G] NM_005972 PPYR1 EXON Missense_N318D exm822307 10 47087813 [A/G] NM_005972 PPYR1 EXON Missense_A344T exm2271283 10 47646751 [T/C] exm2271284 10 48369749 [T/C] NM_153034 ZNF488 Silent exm822455 10 48370644 [A/G] NM_153034 ZNF488 EXON Missense_E38K exm1680423 10 48370683 [A/G] NM_153034 ZNF488 EXON Missense_E51K exm822464 10 48370731 [T/C] NM_153034 ZNF488 EXON Missense_R67W exm822465 10 48370732 [A/G] NM_153034 ZNF488 EXON Missense_R67Q exm822466 10 48370747 [T/C] NM_153034 ZNF488 EXON Missense_A72V exm822474 10 48370833 [A/G] NM_153034 ZNF488 EXON Missense_A101T exm822477 10 48370864 [A/G] NM_153034 ZNF488 EXON Missense_R111Q exm822483 10 48370965 [A/G] NM_153034 ZNF488 EXON Missense_S145G exm822493 10 48371220 [T/C] NM_153034 ZNF488 EXON Missense_C230R exm822496 10 48371248 [A/T] NM_153034 ZNF488 EXON Missense_L239Q exm822498 10 48371277 [T/C] NM_153034 ZNF488 EXON Missense_P249S exm822505 10 48371362 [G/C] NM_153034 ZNF488 EXON Missense_C277S exm822506 10 48371386 [A/G] NM_153034 ZNF488 EXON Missense_R285H exm822510 10 48371397 [A/G] NM_153034 ZNF488 EXON Missense_D289N exm822516 10 48371511 [T/C] NM_153034 ZNF488 EXON Missense_R327W exm2217214 10 48381942 [T/C] NM_002900 RBP3 EXON Missense_R1236K exm822524 10 48382014 [A/G] NM_002900 RBP3 EXON Missense_T1212I exm1680438 10 48382197 [A/G] NM_002900 RBP3 EXON Missense_A1151V exm822536 10 48383856 [T/C] NM_002900 RBP3 EXON Missense_A1126T exm822537 10 48383891 [T/C] NM_002900 RBP3 EXON Missense_R1114Q exm822550 10 48386030 [T/G] NM_002900 RBP3 EXON Missense_S1021Y exm822554 10 48387898 [T/C] NM_002900 RBP3 EXON Missense_G994R exm2249254 10 48387932 [A/G] NM_002900 RBP3 EXON Synonymous_A982A exm822569 10 48388228 [T/C] NM_002900 RBP3 EXON Missense_V884M exm822570 10 48388252 [A/C] NM_002900 RBP3 EXON Missense_A876S exm822583 10 48388381 [A/G] NM_002900 RBP3 EXON Missense_R833C exm822588 10 48388462 [A/G] NM_002900 RBP3 EXON Missense_R806C exm822605 10 48388710 [A/G] NM_002900 RBP3 EXON Missense_P723L exm822610 10 48388801 [T/C] NM_002900 RBP3 EXON Missense_V693M exm822626 10 48389083 [T/C] NM_002900 RBP3 EXON Missense_I599V exm822639 10 48389233 [T/C] NM_002900 RBP3 EXON Missense_A549T exm822642 10 48389247 [T/C] NM_002900 RBP3 EXON Missense_R544H exm822657 10 48389388 [T/C] NM_002900 RBP3 EXON Missense_Q497R exm822658 10 48389400 [A/G] NM_002900 RBP3 EXON Missense_L493P exm822664 10 48389607 [A/G] NM_002900 RBP3 EXON Missense_A424V exm822667 10 48389671 [T/C] NM_002900 RBP3 EXON Missense_A403T exm822674 10 48389737 [G/C] NM_002900 RBP3 EXON Missense_E381Q exm822705 10 48390151 [T/C] NM_002900 RBP3 EXON Missense_A243T exm822714 10 48390253 [T/C] NM_002900 RBP3 EXON Missense_E209K exm822715 10 48390256 [T/C] NM_002900 RBP3 EXON Missense_T208A exm822735 10 48390579 [A/G] NM_002900 RBP3 EXON Missense_P100L exm822742 10 48390678 [A/G] NM_002900 RBP3 EXON Missense_P67L exm822764 10 48413871 [A/G] NM_016204 GDF2 EXON Missense_R333W exm822774 10 48413957 [A/G] NM_016204 GDF2 EXON Missense_T304M exm822776 10 48413967 [T/C] NM_016204 GDF2 EXON Missense_E301K exm822783 10 48414092 [T/C] NM_016204 GDF2 EXON Missense_N259S exm822792 10 48414216 [T/C] NM_016204 GDF2 EXON Missense_D218N exm1680493 10 48414490 [T/G] NM_016204 GDF2 EXON Missense_F126L exm1680494 10 48414516 [A/T] NM_016204 GDF2 EXON Missense_I118F exm822818 10 48416473 [T/C] NM_016204 GDF2 EXON Missense_G74E exm2276103 10 48426605 [A/G] NM_004962 GDF10 EXON Missense_P468S exm1680501 10 48426754 [T/C] NM_004962 GDF10 EXON Missense_R418H exm822841 10 48428841 [T/C] NM_004962 GDF10 EXON Missense_M349V exm1680504 10 48428888 [G/C] NM_004962 GDF10 EXON Missense_P333R exm822858 10 48429242 [T/C] NM_004962 GDF10 EXON Missense_R215Q exm822871 10 48429512 [A/G] NM_004962 GDF10 EXON Missense_S125L exm822881 10 48438495 [G/C] NM_004962 GDF10 EXON Missense_Q72H exm2249256 10 48494099 [T/G] exm2259598 10 48631327 [A/G] exm2266991 10 49201964 [A/G] exm822948 10 49392607 [A/G] NM_001018071 FRMPD2 Silent exm1680576 10 49392828 [A/G] NM_001018071 FRMPD2 EXON Missense_T819M exm822960 10 49393643 [T/C] NM_001018071 FRMPD2 EXON Missense_R771Q exm822962 10 49393685 [T/G] NM_001018071 FRMPD2 EXON Nonsense_S757X exm822963 10 49393688 [A/C] NM_001018071 FRMPD2 EXON Missense_G756V exm822973 10 49400730 [T/C] NM_001018071 FRMPD2 EXON Missense_R721H exm822974 10 49400731 [A/G] NM_001018071 FRMPD2 EXON Missense_R721C exm822975 10 49400734 [T/C] NM_001018071 FRMPD2 EXON Missense_G720R exm1680588 10 49400746 [T/C] NM_001018071 FRMPD2 EXON Missense_A716T exm822986 10 49409419 [A/C] NM_001018071 FRMPD2 EXON Missense_K602N exm822992 10 49414829 [A/G] NM_001018071 FRMPD2 EXON Missense_R587W exm822999 10 49414975 [A/G] NM_001018071 FRMPD2 EXON Missense_V538A exm823001 10 49420008 [T/C] NM_001018071 FRMPD2 EXON Missense_K534E exm823020 10 49430493 [T/G] NM_001018071 FRMPD2 EXON Missense_H440N exm823024 10 49431225 [A/C] NM_001018071 FRMPD2 EXON Missense_M419I exm1680604 10 49440194 [T/C] NM_001018071 FRMPD2 EXON Missense_E378K exm823029 10 49440215 [T/C] NM_001018071 FRMPD2 EXON Missense_V371M exm823031 10 49440230 [A/C] NM_001018071 FRMPD2 EXON Missense_A366S exm823034 10 49440271 [T/C] NM_001018071 FRMPD2 EXON Missense_Q352R exm823035 10 49440275 [T/C] NM_001018071 FRMPD2 EXON Missense_G351R exm823038 10 49440329 [T/C] NM_001018071 FRMPD2 EXON Missense_K333E exm823047 10 49446125 [T/C] NM_001018071 FRMPD2 EXON Missense_R277Q exm823048 10 49446126 [A/G] NM_001018071 FRMPD2 EXON Missense_R277W exm823059 10 49447720 [A/G] NM_001018071 FRMPD2 EXON Missense_T239M exm823061 10 49448426 [A/G] NM_001018071 FRMPD2 EXON Missense_P226L exm823064 10 49448463 [A/G] NM_001018071 FRMPD2 EXON Missense_R214C exm823077 10 49450322 [A/G] NM_001018071 FRMPD2 EXON Missense_T150M exm823086 10 49457150 [C/G] NM_001018071 FRMPD2 EXON Missense_R75G exm823093 10 49457215 [A/G] NM_001018071 FRMPD2 EXON Missense_S53L exm823098 10 49459610 [A/G] NM_001018071 FRMPD2 EXON Synonymous_N50N exm823108 10 49459730 [T/C] NM_001018071 FRMPD2 EXON Missense_M10I exm823112 10 49482597 [A/G] NM_001018071 FRMPD2 EXON Missense_T5M exm823126 10 49612896 [A/G] NM_139049,NM_139047,NM_139046,NM_002750 MAPK8,MAPK8,MAPK8,MAPK8 EXON Missense_A42T,Missense_A42T,Missense_A42T,Missense_A42T exm823164 10 49643041 [T/C] NM_139049,NM_139047,NM_139046,NM_002750 MAPK8,MAPK8,MAPK8,MAPK8 EXON Missense_A418V,Missense_A418V,Silent,Silent exm823171 10 49654462 [T/C] NM_001256026,NR_045675,NM_001256025,NM_001256024,NM_021226 ARHGAP22,ARHGAP22,ARHGAP22,ARHGAP22,ARHGAP22 EXON Missense_G600E,Silent,Missense_G696E,Missense_G706E,Missense_G690E exm823172 10 49654502 [T/C] NM_001256026,NR_045675,NM_001256025,NM_001256024,NM_021226 ARHGAP22,ARHGAP22,ARHGAP22,ARHGAP22,ARHGAP22 EXON Missense_M587V,Silent,Missense_M683V,Missense_M693V,Missense_M677V exm823175 10 49654549 [T/C] NM_001256026,NR_045675,NM_001256025,NM_001256024,NM_021226 ARHGAP22,ARHGAP22,ARHGAP22,ARHGAP22,ARHGAP22 EXON Missense_R571Q,Silent,Missense_R667Q,Missense_R677Q,Missense_R661Q exm823178 10 49654622 [A/G] NM_001256026,NR_045675,NM_001256025,NM_001256024,NM_021226 ARHGAP22,ARHGAP22,ARHGAP22,ARHGAP22,ARHGAP22 EXON Missense_R547W,Silent,Missense_R643W,Missense_R653W,Missense_R637W exm823182 10 49658338 [A/G] NM_001256026,NR_045675,NM_001256025,NM_001256024,NM_021226 ARHGAP22,ARHGAP22,ARHGAP22,ARHGAP22,ARHGAP22 EXON Missense_R522C,Silent,Missense_R618C,Missense_R628C,Missense_R612C exm823200 10 49658718 [G/C] NM_001256026,NR_045675,NM_001256025,NM_001256024,NM_021226 ARHGAP22,ARHGAP22,ARHGAP22,ARHGAP22,ARHGAP22 EXON Missense_S395C,Silent,Missense_S491C,Missense_S501C,Missense_S485C exm823205 10 49658842 [G/C] NM_001256026,NR_045675,NM_001256025,NM_001256024,NM_021226 ARHGAP22,ARHGAP22,ARHGAP22,ARHGAP22,ARHGAP22 EXON Missense_G354R,Silent,Missense_G450R,Missense_G460R,Missense_G444R exm823208 10 49658874 [T/C] NM_001256026,NR_045675,NM_001256025,NM_001256024,NM_021226 ARHGAP22,ARHGAP22,ARHGAP22,ARHGAP22,ARHGAP22 EXON Missense_R343Q,Silent,Missense_R439Q,Missense_R449Q,Missense_R433Q exm823245 10 49667803 [A/G] NM_001256026,NR_045675,NM_001256025,NM_001256024,NM_021226 ARHGAP22,ARHGAP22,ARHGAP22,ARHGAP22,ARHGAP22 EXON Missense_R105C,Silent,Missense_R201C,Missense_R211C,Missense_R195C exm823246 10 49667829 [T/C] NM_001256026,NR_045675,NM_001256025,NM_001256024,NM_021226 ARHGAP22,ARHGAP22,ARHGAP22,ARHGAP22,ARHGAP22 EXON Missense_R96H,Silent,Missense_R192H,Missense_R202H,Missense_R186H exm823247 10 49667833 [C/G] NM_001256026,NR_045675,NM_001256025,NM_001256024,NM_021226 ARHGAP22,ARHGAP22,ARHGAP22,ARHGAP22,ARHGAP22 EXON Missense_E95Q,Silent,Missense_E191Q,Missense_E201Q,Missense_E185Q exm823254 10 49667919 [T/C] NM_001256026,NR_045675,NM_001256025,NM_001256024,NM_021226 ARHGAP22,ARHGAP22,ARHGAP22,ARHGAP22,ARHGAP22 EXON Missense_R66H,Silent,Missense_R162H,Missense_R172H,Missense_R156H exm823257 10 49687705 [T/C] NM_001256026,NR_045675,NM_001256025,NM_001256024,NM_021226 ARHGAP22,ARHGAP22,ARHGAP22,ARHGAP22,ARHGAP22 EXON Missense_R52Q,Silent,Missense_R148Q,Missense_R142Q,Missense_R142Q exm823258 10 49687709 [A/G] NM_001256026,NR_045675,NM_001256025,NM_001256024,NM_021226 ARHGAP22,ARHGAP22,ARHGAP22,ARHGAP22,ARHGAP22 EXON Missense_R51C,Silent,Missense_R147C,Missense_R141C,Missense_R141C exm-rs4838605 10 49699957 [T/C] NM_001256026,NR_045675,NM_001256025,NM_001256024,NM_021226 ARHGAP22,ARHGAP22,ARHGAP22,ARHGAP22,ARHGAP22 Silent,Silent,Silent,Silent,Silent exm-rs10776612 10 49735563 [T/C] NR_045675,NM_001256025,NM_001256024,NM_021226 ARHGAP22,ARHGAP22,ARHGAP22,ARHGAP22 Silent,Silent,Silent,Silent exm823279 10 49791149 [T/C] NR_045675,NM_001256025,NM_001256024,NM_021226 ARHGAP22,ARHGAP22,ARHGAP22,ARHGAP22 EXON Silent,Missense_R34Q,Missense_R28Q,Missense_R28Q exm823282 10 49791162 [A/G] NR_045675,NM_001256025,NM_001256024,NM_021226 ARHGAP22,ARHGAP22,ARHGAP22,ARHGAP22 EXON Silent,Missense_R30W,Missense_R24W,Missense_R24W exm2259599 10 49805216 [T/C] NR_045675,NM_001256025,NM_001256024,NM_021226 ARHGAP22,ARHGAP22,ARHGAP22,ARHGAP22 Silent,Silent,Silent,Silent exm2271286 10 49810977 [T/G] NR_045675,NM_001256025,NM_001256024,NM_021226 ARHGAP22,ARHGAP22,ARHGAP22,ARHGAP22 Silent,Silent,Silent,Silent exm823290 10 49917865 [A/G] NM_020945 WDFY4 EXON Missense_D30N exm823294 10 49928168 [A/C] NM_020945 WDFY4 EXON Missense_A116E exm823302 10 49933974 [T/C] NM_020945 WDFY4 EXON Missense_S214P exm823304 10 49934020 [A/G] NM_020945 WDFY4 EXON Missense_R229Q exm-rs11101442 10 49936336 [T/C] NM_020945 WDFY4 Silent exm2217228 10 49937496 [A/G] NM_020945 WDFY4 EXON Missense_S331G exm823327 10 49942050 [A/T] NM_020945 WDFY4 EXON Missense_T553S exm823334 10 49951202 [A/G] NM_020945 WDFY4 EXON Missense_A690T exm823348 10 49968432 [A/G] NM_020945 WDFY4 EXON Missense_V834M exm823361 10 49983819 [T/C] NM_020945 WDFY4 EXON Missense_S944F exm823362 10 49984879 [T/C] NM_020945 WDFY4 EXON Missense_P983L exm823366 10 49986778 [A/G] NM_020945 WDFY4 EXON Missense_A1100T exm823383 10 49998904 [T/C] NM_020945 WDFY4 EXON Missense_S1400L exm823393 10 50013402 [T/C] NM_020945 WDFY4 EXON Missense_S1528P exm823402 10 50018751 [A/G] NM_020945 WDFY4 EXON Missense_R1672H exm823404 10 50018765 [A/G] NM_020945 WDFY4 EXON Missense_V1677M exm823409 10 50019740 [T/C] NM_020945 WDFY4 EXON Missense_M1734T exm2274405 10 50025369 [A/G] NM_020945 WDFY4 EXON Missense_R1807H exm823419 10 50025396 [A/G] NM_020945 WDFY4 EXON Missense_R1816Q exm823421 10 50025446 [T/G] NM_020945 WDFY4 EXON Missense_A1833S exm823430 10 50029210 [T/C] NM_020945 WDFY4 EXON Missense_A1938V exm823435 10 50034833 [A/G] NM_020945 WDFY4 EXON Missense_G2034S exm823442 10 50038834 [A/G] NM_020945 WDFY4 EXON Missense_D2144N exm823443 10 50038878 [C/G] NM_020945 WDFY4 EXON Missense_E2158D exm823458 10 50081604 [C/G] NM_020945 WDFY4 EXON Missense_E2270D exm823459 10 50081681 [A/G] NM_020945 WDFY4 EXON Missense_R2296Q exm2274406 10 50098651 [A/G] NM_020945 WDFY4 EXON Missense_V2399M exm823479 10 50105597 [A/G] NM_020945 WDFY4 EXON Missense_R2472Q exm823480 10 50108293 [A/G] NM_020945 WDFY4 EXON Missense_N2489D exm-rs3849150 10 50109223 [T/C] NM_020945 WDFY4 Silent exm823484 10 50109895 [A/C] NM_020945 WDFY4 EXON Missense_T2525P exm823485 10 50109902 [A/G] NM_020945 WDFY4 EXON Missense_S2527N exm-rs1913517 10 50119054 [A/G] NM_020945,NM_001006939 WDFY4,LRRC18 Silent,Silent exm1680724 10 50121457 [A/C] NM_020945,NM_001006939 WDFY4,LRRC18 EXON Silent,Missense_K248N exm823501 10 50121515 [A/G] NM_020945,NM_001006939 WDFY4,LRRC18 EXON Silent,Missense_T229M exm823504 10 50121544 [T/G] NM_020945,NM_001006939 WDFY4,LRRC18 EXON Silent,Missense_D219E exm823506 10 50121549 [A/G] NM_020945,NM_001006939 WDFY4,LRRC18 EXON Silent,Missense_R218W exm823517 10 50121647 [A/G] NM_020945,NM_001006939 WDFY4,LRRC18 EXON Silent,Missense_S185L exm823521 10 50121714 [T/G] NM_020945,NM_001006939 WDFY4,LRRC18 EXON Silent,Missense_I163L exm2217238 10 50121720 [T/C] NM_020945,NM_001006939 WDFY4,LRRC18 EXON Silent,Missense_V161M exm2249262 10 50121760 [A/G] NM_020945,NM_001006939 WDFY4,LRRC18 EXON Silent,Synonymous_H147H exm823531 10 50121785 [A/G] NM_020945,NM_001006939 WDFY4,LRRC18 EXON Silent,Missense_T139I exm823532 10 50121795 [T/C] NM_020945,NM_001006939 WDFY4,LRRC18 EXON Silent,Missense_V136M exm2249263 10 50121829 [A/G] NM_020945,NM_001006939 WDFY4,LRRC18 EXON Silent,Synonymous_R124R exm2217239 10 50121858 [T/C] NM_020945,NM_001006939 WDFY4,LRRC18 EXON Silent,Missense_V115M exm1680731 10 50122012 [C/G] NM_020945,NM_001006939 WDFY4,LRRC18 EXON Silent,Missense_R63S exm1680732 10 50122041 [T/C] NM_020945,NM_001006939 WDFY4,LRRC18 EXON Silent,Missense_E54K exm823551 10 50122094 [T/C] NM_020945,NM_001006939 WDFY4,LRRC18 EXON Silent,Missense_K36R exm823552 10 50122109 [T/C] NM_020945,NM_001006939 WDFY4,LRRC18 EXON Silent,Missense_R31H exm823556 10 50122181 [A/C] NM_020945,NM_001006939 WDFY4,LRRC18 EXON Silent,Missense_G7V exm823559 10 50151420 [A/G] NM_020945 WDFY4 EXON Missense_A2559T exm2271287 10 50157552 [T/C] NM_020945 WDFY4 Silent exm823572 10 50165258 [A/G] NM_020945 WDFY4 EXON Missense_V2688I exm823573 10 50165315 [A/G] NM_020945 WDFY4 EXON Missense_G2707R exm823575 10 50167787 [A/G] NM_020945 WDFY4 EXON Missense_V2718M exm823585 10 50178246 [T/C] NM_020945 WDFY4 EXON Missense_T2947M exm2249265 10 50178250 [T/C] NM_020945 WDFY4 EXON Synonymous_I2948I exm823593 10 50183042 [A/G] NM_020945 WDFY4 EXON Missense_A3022T exm823594 10 50183049 [A/G] NM_020945 WDFY4 EXON Missense_R3024Q exm823595 10 50183081 [A/G] NM_020945 WDFY4 EXON Missense_V3035I exm823602 10 50186385 [T/C] NM_020945 WDFY4 EXON Missense_V3108A exm823603 10 50186393 [T/C] NM_020945 WDFY4 EXON Missense_R3111W exm823605 10 50186415 [T/C] NM_020945 WDFY4 EXON Missense_P3118L exm-rs2244967 10 50224766 [T/C] NM_001031746 VSTM4 EXON Silent exm823626 10 50255081 [T/C] NM_001031746 VSTM4 EXON Missense_A262T exm823641 10 50285339 [T/C] NM_001031746 VSTM4 EXON Missense_V187M exm823656 10 50315720 [T/C] NM_001031746,NM_144984 VSTM4,VSTM4 EXON Missense_V126I,Missense_V126I exm823664 10 50315773 [A/G] NM_001031746,NM_144984 VSTM4,VSTM4 EXON Missense_A108V,Missense_A108V exm823666 10 50315779 [T/C] NM_001031746,NM_144984 VSTM4,VSTM4 EXON Missense_R106Q,Missense_R106Q exm823667 10 50315780 [A/G] NM_001031746,NM_144984 VSTM4,VSTM4 EXON Missense_R106W,Missense_R106W exm823675 10 50315846 [T/C] NM_001031746,NM_144984 VSTM4,VSTM4 EXON Missense_V84M,Missense_V84M exm823676 10 50315851 [T/C] NM_001031746,NM_144984 VSTM4,VSTM4 EXON Missense_R82Q,Missense_R82Q exm823678 10 50315893 [A/G] NM_001031746,NM_144984 VSTM4,VSTM4 EXON Missense_F68S,Missense_F68S exm823679 10 50315896 [T/G] NM_001031746,NM_144984 VSTM4,VSTM4 EXON Missense_S67Y,Missense_S67Y exm823683 10 50315999 [T/C] NM_001031746,NM_144984 VSTM4,VSTM4 EXON Missense_V33M,Missense_V33M exm823685 10 50316031 [A/G] NM_001031746,NM_144984 VSTM4,VSTM4 EXON Missense_A22V,Missense_A22V exm823691 10 50339754 [T/G] NR_038973,NM_001164484 FAM170B-AS1,FAM170B EXON Silent,Missense_D252E exm823700 10 50340070 [A/T] NR_038973,NM_001164484 FAM170B-AS1,FAM170B EXON Silent,Missense_Q147L exm823703 10 50340187 [A/G] NR_038973,NM_001164484 FAM170B-AS1,FAM170B EXON Silent,Missense_A108V exm823704 10 50340190 [T/C] NR_038973,NM_001164484 FAM170B-AS1,FAM170B EXON Silent,Missense_C107Y exm823709 10 50340310 [T/C] NR_038973,NM_001164484 FAM170B-AS1,FAM170B EXON Silent,Missense_G67E exm823710 10 50340317 [T/C] NR_038973,NM_001164484 FAM170B-AS1,FAM170B EXON Silent,Missense_D65N exm823711 10 50340349 [A/G] NR_038973,NM_001164484 FAM170B-AS1,FAM170B EXON Silent,Missense_P54L exm2217243 10 50340376 [A/G] NR_038973,NM_001164484 FAM170B-AS1,FAM170B EXON Silent,Missense_S45L exm823715 10 50341918 [T/C] NR_038973,NM_001164484 FAM170B-AS1,FAM170B EXON Silent,Missense_D16N exm823716 10 50341954 [A/G] NR_038973,NM_001164484 FAM170B-AS1,FAM170B EXON Silent,Missense_Y4H exm823726 10 50369666 [A/G] NM_001010863 C10orf128 EXON Nonsense_R91X exm823730 10 50373815 [A/G] NM_001010863 C10orf128 EXON Missense_P89S exm823731 10 50373822 [A/C] NM_001010863 C10orf128 EXON Missense_K86N exm823732 10 50373832 [A/G] NM_001010863 C10orf128 EXON Missense_P83L exm823744 10 50374953 [C/G] NM_001010863 C10orf128 EXON Missense_D67H exm2249266 10 50375017 [A/G] NM_001010863 C10orf128 EXON Synonymous_V45V exm823750 10 50375042 [A/G] NM_001010863 C10orf128 EXON Missense_A37V exm823753 10 50375046 [A/G] NM_001010863 C10orf128 EXON Missense_Y36H exm823757 10 50376004 [A/G] NM_001010863 C10orf128 EXON Missense_V16A exm823772 10 50530621 [A/G] NM_199459,NM_001135196 C10orf71,C10orf71 EXON Missense_A11T,Missense_A11T exm823781 10 50530703 [A/G] NM_199459,NM_001135196 C10orf71,C10orf71 EXON Missense_R38Q,Missense_R38Q exm823783 10 50530724 [A/G] NM_199459,NM_001135196 C10orf71,C10orf71 EXON Missense_D45G,Missense_D45G exm823786 10 50530751 [T/C] NM_199459,NM_001135196 C10orf71,C10orf71 EXON Missense_A54V,Missense_A54V exm823793 10 50530859 [T/C] NM_199459,NM_001135196 C10orf71,C10orf71 EXON Missense_T90M,Missense_T90M exm823805 10 50531033 [A/G] NM_199459,NM_001135196 C10orf71,C10orf71 EXON Missense_K148R,Missense_K148R exm823812 10 50531119 [A/G] NM_199459,NM_001135196 C10orf71,C10orf71 EXON Missense_A177T,Missense_A177T exm823813 10 50531137 [A/T] NM_199459,NM_001135196 C10orf71,C10orf71 EXON Missense_S183C,Missense_S183C exm823814 10 50531188 [A/G] NM_199459,NM_001135196 C10orf71,C10orf71 EXON Missense_A200T,Missense_A200T exm823816 10 50531214 [C/G] NM_199459,NM_001135196 C10orf71,C10orf71 EXON Missense_N208K,Missense_N208K exm823817 10 50531223 [T/G] NM_199459,NM_001135196 C10orf71,C10orf71 EXON Missense_Q211H,Missense_Q211H exm823826 10 50531360 [A/C] NM_199459,NM_001135196 C10orf71,C10orf71 EXON Missense_P257Q,Missense_P257Q exm823833 10 50531528 [C/G] NM_199459,NM_001135196 C10orf71,C10orf71 EXON Missense_R313T,Missense_R313T exm823834 10 50531533 [A/C] NM_199459,NM_001135196 C10orf71,C10orf71 EXON Missense_P315T,Missense_P315T exm823836 10 50531549 [T/G] NM_199459,NM_001135196 C10orf71,C10orf71 EXON Missense_R320L,Missense_R320L exm1680820 10 50531560 [T/C] NM_199459,NM_001135196 C10orf71,C10orf71 EXON Missense_P324S,Missense_P324S exm823841 10 50531606 [A/C] NM_199459,NM_001135196 C10orf71,C10orf71 EXON Missense_A339E,Missense_A339E exm823844 10 50531687 [C/G] NM_199459,NM_001135196 C10orf71,C10orf71 EXON Missense_P366R,Missense_P366R exm823845 10 50531716 [A/C] NM_199459,NM_001135196 C10orf71,C10orf71 EXON Missense_P376T,Missense_P376T exm823849 10 50531866 [C/G] NM_199459,NM_001135196 C10orf71,C10orf71 EXON Missense_A426P,Missense_A426P exm823851 10 50531905 [A/C] NM_199459,NM_001135196 C10orf71,C10orf71 EXON Missense_P439T,Missense_P439T exm823852 10 50531906 [T/C] NM_199459,NM_001135196 C10orf71,C10orf71 EXON Missense_P439L,Missense_P439L exm823858 10 50531956 [A/G] NM_199459,NM_001135196 C10orf71,C10orf71 EXON Missense_A456T,Missense_A456T exm823859 10 50531972 [A/C] NM_199459,NM_001135196 C10orf71,C10orf71 EXON Missense_D461A,Missense_D461A exm823863 10 50532019 [A/G] NM_199459,NM_001135196 C10orf71,C10orf71 EXON Missense_G477R,Missense_G477R exm823865 10 50532106 [A/G] NM_199459,NM_001135196 C10orf71,C10orf71 EXON Missense_V506M,Missense_V506M exm823867 10 50532115 [T/C] NM_199459,NM_001135196 C10orf71,C10orf71 EXON Missense_R509C,Missense_R509C exm823871 10 50532151 [A/G] NM_199459,NM_001135196 C10orf71,C10orf71 EXON Missense_K521E,Missense_K521E exm823872 10 50532155 [T/G] NM_199459,NM_001135196 C10orf71,C10orf71 EXON Missense_V522G,Missense_V522G exm823877 10 50532212 [A/G] NM_199459,NM_001135196 C10orf71,C10orf71 EXON Missense_G541D,Missense_G541D exm823889 10 50532542 [A/G] NM_199459,NM_001135196 C10orf71,C10orf71 EXON Missense_N651S,Missense_N651S exm823891 10 50532588 [C/G] NM_199459,NM_001135196 C10orf71,C10orf71 EXON Missense_H666Q,Missense_H666Q exm823892 10 50532595 [A/G] NM_199459,NM_001135196 C10orf71,C10orf71 EXON Missense_E669K,Missense_E669K exm823895 10 50532683 [T/C] NM_199459,NM_001135196 C10orf71,C10orf71 EXON Silent,Missense_F698S exm823897 10 50532812 [A/G] NM_199459,NM_001135196 C10orf71,C10orf71 EXON Silent,Missense_D741G exm823902 10 50533054 [T/G] NM_199459,NM_001135196 C10orf71,C10orf71 EXON Silent,Missense_F822V exm823907 10 50533237 [A/G] NM_199459,NM_001135196 C10orf71,C10orf71 EXON Silent,Missense_D883N exm2217248 10 50533366 [T/C] NM_199459,NM_001135196 C10orf71,C10orf71 EXON Silent,Missense_R926C exm823916 10 50533463 [A/T] NM_199459,NM_001135196 C10orf71,C10orf71 EXON Silent,Missense_F958Y exm2249267 10 50533776 [G/C] NM_199459,NM_001135196 C10orf71,C10orf71 EXON Silent,Synonymous_P1062P exm823929 10 50533841 [G/C] NM_199459,NM_001135196 C10orf71,C10orf71 EXON Silent,Missense_G1084A exm823939 10 50534395 [A/G] NM_199459,NM_001135196 C10orf71,C10orf71 EXON Silent,Missense_A1269T exm823943 10 50534599 [A/G] NM_199459,NM_001135196 C10orf71,C10orf71 EXON Silent,Missense_G1337S exm823957 10 50535024 [T/G] NM_199459,NM_001135196 C10orf71,C10orf71 EXON Missense_L708R,Silent exm2266992 10 50569286 [A/G] exm823964 10 50574389 [G/C] NM_001080520,NM_001276451 DRGX,DRGX EXON Missense_M193I,Missense_M188I exm823966 10 50574403 [T/C] NM_001080520,NM_001276451 DRGX,DRGX EXON Missense_V189I,Missense_V184I exm823973 10 50594566 [T/C] NM_001080520,NM_001276451 DRGX,DRGX EXON Missense_A167T,Missense_A162T exm823978 10 50594625 [A/G] NM_001080520,NM_001276451 DRGX,DRGX EXON Missense_T147M,Missense_T142M exm823979 10 50594628 [T/C] NM_001080520,NM_001276451 DRGX,DRGX EXON Missense_R146Q,Missense_R141Q exm1680837 10 50594744 [A/G] NM_001080520,NM_001276451 DRGX,DRGX EXON Missense_A137V,Missense_A132V exm1680844 10 50666949 [A/G] NM_000124 ERCC6 EXON Missense_V1465A exm824004 10 50667021 [A/G] NM_000124 ERCC6 EXON Missense_T1441I exm824007 10 50667105 [T/C] NM_000124 ERCC6 EXON Missense_Q1413R exm824009 10 50667115 [T/C] NM_000124 ERCC6 EXON Missense_G1410R exm824011 10 50667120 [T/G] NM_000124 ERCC6 EXON Missense_E1408A exm824012 10 50667127 [T/C] NM_000124 ERCC6 EXON Missense_E1406K exm824016 10 50667199 [T/C] NM_000124 ERCC6 EXON Missense_G1382R exm824017 10 50667229 [T/C] NM_000124 ERCC6 EXON Missense_G1372R exm824019 10 50667278 [A/C] NM_000124 ERCC6 EXON Missense_D1355E exm2274407 10 50668464 [A/G] NM_000124 ERCC6 EXON Synonymous_F1339F exm824024 10 50668466 [A/G] NM_000124 ERCC6 EXON Missense_F1339L exm824029 10 50669459 [C/G] NM_000124 ERCC6 EXON Missense_V1308L exm824034 10 50669545 [T/A] NM_000124 ERCC6 EXON Missense_Y1279F exm824039 10 50678261 [T/C] NM_000124 ERCC6 EXON Missense_D1249N exm824040 10 50678287 [A/C] NM_000124 ERCC6 EXON Missense_S1240I exm824042 10 50678317 [C/G] NM_000124 ERCC6 EXON Missense_R1230P exm824044 10 50678344 [T/C] NM_000124 ERCC6 EXON Missense_R1221Q exm824045 10 50678347 [A/G] NM_000124 ERCC6 EXON Missense_T1220I exm824046 10 50678356 [A/C] NM_000124 ERCC6 EXON Missense_F1217C exm824056 10 50678524 [G/C] NM_000124 ERCC6 EXON Missense_S1161T exm824057 10 50678525 [T/G] NM_000124 ERCC6 EXON Missense_S1161R exm824058 10 50678529 [T/G] NM_000124 ERCC6 EXON Missense_R1159S exm824061 10 50678615 [T/C] NM_000124 ERCC6 EXON Missense_N1131D exm824067 10 50678717 [T/C] NM_000124 ERCC6 EXON Missense_M1097V exm824068 10 50678722 [C/G] NM_000124 ERCC6 EXON Missense_P1095R exm824070 10 50678747 [A/G] NM_000124 ERCC6 EXON Nonsense_R1087X exm824072 10 50678819 [T/C] NM_000124 ERCC6 EXON Missense_V1063I exm824077 10 50678884 [T/G] NM_000124 ERCC6 EXON Missense_Q1041P exm824079 10 50679030 [T/C] NM_000124 ERCC6 EXON Missense_I1021V exm824087 10 50680422 [T/C] NM_000124 ERCC6 EXON Missense_R975Q exm824089 10 50680471 [A/C] NM_000124 ERCC6 EXON Missense_V959L exm824092 10 50680959 [A/G] NM_000124 ERCC6 EXON Missense_T942M exm824096 10 50681043 [A/G] NM_000124 ERCC6 EXON Missense_T914M exm824101 10 50681587 [T/C] NM_000124 ERCC6 EXON Missense_Y882C exm1680871 10 50682161 [T/C] NM_000124 ERCC6 EXON Missense_R837H exm824114 10 50682281 [G/C] NM_000124 ERCC6 EXON Missense_S797C exm824117 10 50684278 [G/C] NM_000124 ERCC6 EXON Missense_L789V exm824131 10 50690735 [A/G] NM_000124 ERCC6 EXON Nonsense_Q723X exm824136 10 50690806 [A/G] NM_000124 ERCC6 EXON Missense_T699M exm824138 10 50690821 [A/G] NM_000124 ERCC6 EXON Missense_P694L exm824141 10 50690854 [T/C] NM_000124 ERCC6 EXON Missense_R683Q exm824150 10 50691549 [T/C] NM_000124 ERCC6 EXON Missense_R612Q exm1680890 10 50701164 [T/A] NM_000124 ERCC6 EXON Missense_K607M exm824155 10 50701183 [T/C] NM_000124 ERCC6 EXON Missense_G601S exm824157 10 50701212 [A/G] NM_000124 ERCC6 EXON Missense_P591L exm824160 10 50708599 [T/C] NM_000124 ERCC6 EXON Missense_R557H exm824162 10 50708610 [A/C] NM_000124 ERCC6 EXON Missense_K553N exm824175 10 50714020 [T/C] NM_000124 ERCC6 EXON Missense_R479H exm824176 10 50714021 [A/G] NM_000124 ERCC6 EXON Missense_R479C exm824189 10 50723780 [T/C] NM_000124,NM_170753 ERCC6,PGBD3 EXON Silent,Missense_G461R exm824191 10 50723825 [G/C] NM_000124,NM_170753 ERCC6,PGBD3 EXON Silent,Missense_Q446E exm824198 10 50724013 [A/G] NM_000124,NM_170753 ERCC6,PGBD3 EXON Silent,Missense_V383A exm824199 10 50724016 [T/C] NM_000124,NM_170753 ERCC6,PGBD3 EXON Silent,Missense_R382K exm824204 10 50724187 [T/C] NM_000124,NM_170753 ERCC6,PGBD3 EXON Silent,Missense_Y325C exm824208 10 50724312 [T/G] NM_000124,NM_170753 ERCC6,PGBD3 EXON Silent,Missense_K283N exm824209 10 50724316 [T/C] NM_000124,NM_170753 ERCC6,PGBD3 EXON Silent,Missense_C282Y exm824221 10 50724555 [A/C] NM_000124,NM_170753 ERCC6,PGBD3 EXON Silent,Missense_W202C exm824223 10 50724678 [G/C] NM_000124,NM_170753 ERCC6,PGBD3 EXON Silent,Nonsense_Y161X exm824230 10 50724775 [A/G] NM_000124,NM_170753 ERCC6,PGBD3 EXON Silent,Missense_T129I exm824234 10 50724813 [T/C] NM_000124,NM_170753 ERCC6,PGBD3 EXON Silent,Synonymous_K116K exm824245 10 50725138 [T/C] NM_000124,NM_170753 ERCC6,PGBD3 EXON Silent,Missense_H8R exm824250 10 50732137 [A/G] NM_000124,NM_170753 ERCC6,PGBD3 EXON Missense_R447W,Silent exm824251 10 50732139 [T/C] NM_000124,NM_170753 ERCC6,PGBD3 EXON Missense_G446D,Silent exm824252 10 50732154 [T/C] NM_000124,NM_170753 ERCC6,PGBD3 EXON Missense_E441G,Silent exm824253 10 50732202 [T/G] NM_000124,NM_170753 ERCC6,PGBD3 EXON Missense_D425A,Silent exm824257 10 50732247 [T/C] NM_000124,NM_170753 ERCC6,PGBD3 EXON Missense_G410D,Silent exm824258 10 50732280 [T/C] NM_000124,NM_170753 ERCC6,PGBD3 EXON Missense_G399D,Silent exm824263 10 50732317 [T/C] NM_000124,NM_170753 ERCC6,PGBD3 EXON Missense_E387K,Silent exm824266 10 50732331 [T/C] NM_000124,NM_170753 ERCC6,PGBD3 EXON Missense_E382G,Silent exm824270 10 50732514 [A/G] NM_000124 ERCC6 EXON Missense_L321P exm824276 10 50732618 [G/C] NM_000124 ERCC6 EXON Missense_K286N exm824282 10 50732806 [A/G] NM_000124 ERCC6 EXON Missense_L224F exm824285 10 50736550 [T/C] NM_000124 ERCC6 EXON Missense_T189A exm824294 10 50740611 [A/G] NM_000124 ERCC6 EXON Missense_R134W exm824295 10 50740626 [T/C] NM_000124 ERCC6 EXON Missense_V129M exm1680926 10 50740632 [T/C] NM_000124 ERCC6 EXON Missense_V127I exm824300 10 50740667 [T/C] NM_000124 ERCC6 EXON Missense_N115S exm824308 10 50740827 [T/C] NM_000124 ERCC6 EXON Missense_A62T exm1680935 10 50818874 [A/C] NM_020984,NM_003055 CHAT,SLC18A3 EXON Silent,Synonymous_R30R exm824341 10 50819228 [T/C] NM_020984,NM_003055 CHAT,SLC18A3 EXON Silent,Missense_R148C exm824350 10 50819432 [T/G] NM_020984,NM_003055 CHAT,SLC18A3 EXON Silent,Missense_V216L exm824353 10 50819567 [G/C] NM_020984,NM_003055 CHAT,SLC18A3 EXON Silent,Missense_A261P exm2276104 10 50819912 [G/C] NM_020984,NM_003055 CHAT,SLC18A3 EXON Silent,Missense_A376P exm1680941 10 50819980 [G/C] NM_020984,NM_003055 CHAT,SLC18A3 EXON Silent,Missense_D398E exm824376 10 50820062 [A/G] NM_020984,NM_003055 CHAT,SLC18A3 EXON Silent,Missense_I426V exm824389 10 50820345 [A/C] NM_020984,NM_003055 CHAT,SLC18A3 EXON Silent,Missense_A520E exm824391 10 50820377 [T/C] NM_020984,NM_003055 CHAT,SLC18A3 EXON Silent,Missense_R531C exm2259600 10 50821191 [T/G] NM_020984,NM_020986,NM_020985 CHAT,CHAT,CHAT EXON Silent,Silent,Silent exm-rs3810947 10 50821243 [A/G] NM_020984,NM_020986,NM_020985 CHAT,CHAT,CHAT EXON Silent,Silent,Silent exm824415 10 50824106 [T/C] NM_020984,NM_020986,NM_020985,NM_001142934,NM_001142933,NM_020549,NM_001142929 CHAT,CHAT,CHAT,CHAT,CHAT,CHAT,CHAT EXON Silent,Silent,Silent,Silent,Missense_P3L,Silent,Silent exm824417 10 50824117 [A/G] NM_020984,NM_020986,NM_020985,NM_001142934,NM_001142933,NM_020549,NM_001142929 CHAT,CHAT,CHAT,CHAT,CHAT,CHAT,CHAT EXON Silent,Silent,Silent,Silent,Missense_D7N,Silent,Silent exm1680951 10 50824610 [T/C] NM_020984,NM_020986,NM_020985,NM_001142934,NM_001142933,NM_020549,NM_001142929 CHAT,CHAT,CHAT,CHAT,CHAT,CHAT,CHAT EXON Silent,Silent,Silent,Silent,Missense_R35C,Missense_R117C,Silent exm824421 10 50824619 [A/G] NM_020984,NM_020986,NM_020985,NM_001142934,NM_001142933,NM_020549,NM_001142929 CHAT,CHAT,CHAT,CHAT,CHAT,CHAT,CHAT EXON Missense_A2T,Missense_A2T,Missense_A2T,Missense_A2T,Missense_A38T,Missense_A120T,Missense_A2T exm824445 10 50830155 [G/C] NM_020984,NM_020986,NM_020985,NM_001142934,NM_001142933,NM_020549,NM_001142929 CHAT,CHAT,CHAT,CHAT,CHAT,CHAT,CHAT EXON Missense_S119R,Missense_S119R,Missense_S119R,Missense_S119R,Missense_S155R,Missense_S237R,Missense_S119R exm824447 10 50830171 [T/C] NM_020984,NM_020986,NM_020985,NM_001142934,NM_001142933,NM_020549,NM_001142929 CHAT,CHAT,CHAT,CHAT,CHAT,CHAT,CHAT EXON Missense_L125F,Missense_L125F,Missense_L125F,Missense_L125F,Missense_L161F,Missense_L243F,Missense_L125F exm824449 10 50830189 [G/C] NM_020984,NM_020986,NM_020985,NM_001142934,NM_001142933,NM_020549,NM_001142929 CHAT,CHAT,CHAT,CHAT,CHAT,CHAT,CHAT EXON Missense_L131V,Missense_L131V,Missense_L131V,Missense_L131V,Missense_L167V,Missense_L249V,Missense_L131V exm824454 10 50833616 [A/G] NM_020984,NM_020986,NM_020985,NM_001142934,NM_001142933,NM_020549,NM_001142929 CHAT,CHAT,CHAT,CHAT,CHAT,CHAT,CHAT EXON Missense_G166S,Missense_G166S,Missense_G166S,Missense_G166S,Missense_G202S,Missense_G284S,Missense_G166S exm824460 10 50835684 [T/C] NM_020984,NM_020986,NM_020985,NM_001142934,NM_001142933,NM_020549,NM_001142929 CHAT,CHAT,CHAT,CHAT,CHAT,CHAT,CHAT EXON Missense_R204C,Missense_R204C,Missense_R204C,Missense_R204C,Missense_R240C,Missense_R322C,Missense_R204C exm824464 10 50835789 [A/G] NM_020984,NM_020986,NM_020985,NM_001142934,NM_001142933,NM_020549,NM_001142929 CHAT,CHAT,CHAT,CHAT,CHAT,CHAT,CHAT EXON Missense_G239R,Missense_G239R,Missense_G239R,Missense_G239R,Missense_G275R,Missense_G357R,Missense_G239R exm824467 10 50835807 [A/G] NM_020984,NM_020986,NM_020985,NM_001142934,NM_001142933,NM_020549,NM_001142929 CHAT,CHAT,CHAT,CHAT,CHAT,CHAT,CHAT EXON Missense_E245K,Missense_E245K,Missense_E245K,Missense_E245K,Missense_E281K,Missense_E363K,Missense_E245K exm824470 10 50854562 [T/C] NM_020984,NM_020986,NM_020985,NM_001142934,NM_001142933,NM_020549,NM_001142929 CHAT,CHAT,CHAT,CHAT,CHAT,CHAT,CHAT EXON Missense_R257W,Missense_R257W,Missense_R257W,Missense_R257W,Missense_R293W,Missense_R375W,Missense_R257W exm824472 10 50854574 [G/C] NM_020984,NM_020986,NM_020985,NM_001142934,NM_001142933,NM_020549,NM_001142929 CHAT,CHAT,CHAT,CHAT,CHAT,CHAT,CHAT EXON Missense_D261H,Missense_D261H,Missense_D261H,Missense_D261H,Missense_D297H,Missense_D379H,Missense_D261H exm824475 10 50854613 [A/G] NM_020984,NM_020986,NM_020985,NM_001142934,NM_001142933,NM_020549,NM_001142929 CHAT,CHAT,CHAT,CHAT,CHAT,CHAT,CHAT EXON Missense_A274T,Missense_A274T,Missense_A274T,Missense_A274T,Missense_A310T,Missense_A392T,Missense_A274T exm824477 10 50854637 [A/G] NM_020984,NM_020986,NM_020985,NM_001142934,NM_001142933,NM_020549,NM_001142929 CHAT,CHAT,CHAT,CHAT,CHAT,CHAT,CHAT EXON Missense_D282N,Missense_D282N,Missense_D282N,Missense_D282N,Missense_D318N,Missense_D400N,Missense_D282N exm824482 10 50856643 [T/C] NM_020984,NM_020986,NM_020985,NM_001142934,NM_001142933,NM_020549,NM_001142929 CHAT,CHAT,CHAT,CHAT,CHAT,CHAT,CHAT EXON Missense_L340F,Missense_L340F,Missense_L340F,Missense_L340F,Missense_L376F,Missense_L458F,Missense_L340F exm824483 10 50856652 [A/G] NM_020984,NM_020986,NM_020985,NM_001142934,NM_001142933,NM_020549,NM_001142929 CHAT,CHAT,CHAT,CHAT,CHAT,CHAT,CHAT EXON Missense_V343M,Missense_V343M,Missense_V343M,Missense_V343M,Missense_V379M,Missense_V461M,Missense_V343M exm824486 10 50857579 [T/C] NM_020984,NM_020986,NM_020985,NM_001142934,NM_001142933,NM_020549,NM_001142929 CHAT,CHAT,CHAT,CHAT,CHAT,CHAT,CHAT EXON Nonsense_R352X,Nonsense_R352X,Nonsense_R352X,Nonsense_R352X,Nonsense_R388X,Nonsense_R470X,Nonsense_R352X exm1680982 10 50857631 [T/G] NM_020984,NM_020986,NM_020985,NM_001142934,NM_001142933,NM_020549,NM_001142929 CHAT,CHAT,CHAT,CHAT,CHAT,CHAT,CHAT EXON Missense_C369F,Missense_C369F,Missense_C369F,Missense_C369F,Missense_C405F,Missense_C487F,Missense_C369F exm824504 10 50863188 [A/G] NM_020984,NM_020986,NM_020985,NM_001142934,NM_001142933,NM_020549,NM_001142929 CHAT,CHAT,CHAT,CHAT,CHAT,CHAT,CHAT EXON Missense_R443Q,Missense_R443Q,Missense_R443Q,Missense_R443Q,Missense_R479Q,Missense_R561Q,Missense_R443Q exm824508 10 50870734 [A/G] NM_020984,NM_020986,NM_020985,NM_001142934,NM_001142933,NM_020549,NM_001142929 CHAT,CHAT,CHAT,CHAT,CHAT,CHAT,CHAT EXON Missense_R510Q,Missense_R510Q,Missense_R510Q,Missense_R510Q,Missense_R546Q,Missense_R628Q,Missense_R510Q exm824509 10 50870745 [T/C] NM_020984,NM_020986,NM_020985,NM_001142934,NM_001142933,NM_020549,NM_001142929 CHAT,CHAT,CHAT,CHAT,CHAT,CHAT,CHAT EXON Missense_R514W,Missense_R514W,Missense_R514W,Missense_R514W,Missense_R550W,Missense_R632W,Missense_R514W exm824513 10 50870806 [A/G] NM_020984,NM_020986,NM_020985,NM_001142934,NM_001142933,NM_020549,NM_001142929 CHAT,CHAT,CHAT,CHAT,CHAT,CHAT,CHAT EXON Missense_R534Q,Missense_R534Q,Missense_R534Q,Missense_R534Q,Missense_R570Q,Missense_R652Q,Missense_R534Q exm824520 10 50873022 [T/C] NM_020984,NM_020986,NM_020985,NM_001142934,NM_001142933,NM_020549,NM_001142929 CHAT,CHAT,CHAT,CHAT,CHAT,CHAT,CHAT EXON Missense_P608L,Missense_P608L,Missense_P608L,Missense_P608L,Missense_P644L,Missense_P726L,Missense_P608L exm1681002 10 50873028 [T/C] NM_020984,NM_020986,NM_020985,NM_001142934,NM_001142933,NM_020549,NM_001142929 CHAT,CHAT,CHAT,CHAT,CHAT,CHAT,CHAT EXON Missense_T610I,Missense_T610I,Missense_T610I,Missense_T610I,Missense_T646I,Missense_T728I,Missense_T610I exm824522 10 50873057 [A/G] NM_020984,NM_020986,NM_020985,NM_001142934,NM_001142933,NM_020549,NM_001142929 CHAT,CHAT,CHAT,CHAT,CHAT,CHAT,CHAT EXON Missense_K620E,Missense_K620E,Missense_K620E,Missense_K620E,Missense_K656E,Missense_K738E,Missense_K620E exm824523 10 50873067 [A/G] NM_020984,NM_020986,NM_020985,NM_001142934,NM_001142933,NM_020549,NM_001142929 CHAT,CHAT,CHAT,CHAT,CHAT,CHAT,CHAT EXON Missense_R623K,Missense_R623K,Missense_R623K,Missense_R623K,Missense_R659K,Missense_R741K,Missense_R623K exm824533 10 50901917 [A/C] NM_182554,NM_001042427 C10orf53,C10orf53 EXON Nonsense_C65X,Nonsense_C65X exm824534 10 50901934 [A/C] NM_182554,NM_001042427 C10orf53,C10orf53 EXON Missense_E71A,Missense_E71A exm824535 10 50901938 [T/C] NM_182554,NM_001042427 C10orf53,C10orf53 EXON Synonymous_F72F,Synonymous_F72F exm2274408 10 50902593 [A/G] NM_182554,NM_001042427 C10orf53,C10orf53 EXON Silent,Missense_G76D exm824545 10 50916484 [A/G] NM_182554 C10orf53 EXON Missense_R99G exm824548 10 50916542 [T/C] NM_182554 C10orf53 EXON Missense_T118I exm824561 10 50943323 [A/C] NM_001143996,NM_001143997,NM_018245 OGDHL,OGDHL,OGDHL EXON Missense_F938C,Missense_F786C,Missense_F995C exm824563 10 50943339 [C/G] NM_001143996,NM_001143997,NM_018245 OGDHL,OGDHL,OGDHL EXON Missense_V933L,Missense_V781L,Missense_V990L exm824574 10 50944172 [T/C] NM_001143996,NM_001143997,NM_018245 OGDHL,OGDHL,OGDHL EXON Missense_G879S,Missense_G727S,Missense_G936S exm824581 10 50944468 [T/C] NM_001143996,NM_001143997,NM_018245 OGDHL,OGDHL,OGDHL EXON Missense_D840N,Missense_D688N,Missense_D897N exm824585 10 50944528 [A/C] NM_001143996,NM_001143997,NM_018245 OGDHL,OGDHL,OGDHL EXON Missense_A820S,Missense_A668S,Missense_A877S exm824608 10 50946307 [T/C] NM_001143996,NM_001143997,NM_018245 OGDHL,OGDHL,OGDHL EXON Missense_G717D,Missense_G565D,Missense_G774D exm824614 10 50947825 [A/G] NM_001143996,NM_001143997,NM_018245 OGDHL,OGDHL,OGDHL EXON Missense_F677S,Missense_F525S,Missense_F734S exm824617 10 50947852 [T/C] NM_001143996,NM_001143997,NM_018245 OGDHL,OGDHL,OGDHL EXON Missense_N668S,Missense_N516S,Missense_N725S exm824628 10 50950914 [T/C] NM_001143996,NM_001143997,NM_018245 OGDHL,OGDHL,OGDHL EXON Missense_V601M,Missense_V449M,Missense_V658M exm824632 10 50950976 [A/G] NM_001143996,NM_001143997,NM_018245 OGDHL,OGDHL,OGDHL EXON Missense_T580M,Missense_T428M,Missense_T637M exm2217261 10 50950997 [A/G] NM_001143996,NM_001143997,NM_018245 OGDHL,OGDHL,OGDHL EXON Missense_A573V,Missense_A421V,Missense_A630V exm824634 10 50951001 [A/G] NM_001143996,NM_001143997,NM_018245 OGDHL,OGDHL,OGDHL EXON Missense_R572C,Missense_R420C,Missense_R629C exm824636 10 50951018 [G/C] NM_001143996,NM_001143997,NM_018245 OGDHL,OGDHL,OGDHL EXON Missense_S566C,Missense_S414C,Missense_S623C exm824643 10 50952088 [A/C] NM_001143996,NM_001143997,NM_018245 OGDHL,OGDHL,OGDHL EXON Missense_G548C,Missense_G396C,Missense_G605C exm824645 10 50952101 [G/C] NM_001143996,NM_001143997,NM_018245 OGDHL,OGDHL,OGDHL EXON Missense_M543I,Missense_M391I,Missense_M600I exm2217262 10 50953945 [T/C] NM_001143996,NM_001143997,NM_018245 OGDHL,OGDHL,OGDHL EXON Missense_I402V,Missense_I250V,Missense_I459V exm1681062 10 50953963 [A/G] NM_001143996,NM_001143997,NM_018245 OGDHL,OGDHL,OGDHL EXON Missense_R396W,Missense_R244W,Missense_R453W exm824674 10 50953980 [T/C] NM_001143996,NM_001143997,NM_018245 OGDHL,OGDHL,OGDHL EXON Missense_Y390C,Missense_Y238C,Missense_Y447C exm824695 10 50955185 [T/G] NM_001143996,NM_001143997,NM_018245 OGDHL,OGDHL,OGDHL EXON Missense_I296L,Missense_I144L,Missense_I353L exm824698 10 50955224 [T/C] NM_001143996,NM_001143997,NM_018245 OGDHL,OGDHL,OGDHL EXON Missense_M283V,Missense_M131V,Missense_M340V exm824703 10 50958895 [A/T] NM_001143996,NM_001143997,NM_018245 OGDHL,OGDHL,OGDHL EXON Missense_M239L,Missense_M87L,Missense_M296L exm824715 10 50959962 [C/G] NM_001143996,NM_001143997,NM_018245 OGDHL,OGDHL,OGDHL EXON Missense_W163C,Missense_W11C,Missense_W220C exm824721 10 50960186 [T/C] NM_001143996,NM_001143997,NM_018245 OGDHL,OGDHL,OGDHL EXON Missense_R139H,Silent,Missense_R196H exm824722 10 50960190 [A/G] NM_001143996,NM_001143997,NM_018245 OGDHL,OGDHL,OGDHL EXON Missense_R138W,Silent,Missense_R195W exm824726 10 50960232 [A/T] NM_001143996,NM_001143997,NM_018245 OGDHL,OGDHL,OGDHL EXON Missense_I124F,Silent,Missense_I181F exm824746 10 50966434 [T/C] NM_001143996,NM_001143997,NM_018245 OGDHL,OGDHL,OGDHL Silent,Silent,Silent exm824754 10 50966571 [T/C] NM_001143996,NM_001143997,NM_018245 OGDHL,OGDHL,OGDHL EXON Missense_D23G,Silent,Missense_D23G exm824760 10 51027411 [T/G] NM_003631 PARG EXON Missense_H969P exm824764 10 51028256 [T/C] NM_003631 PARG EXON Missense_I911V exm2266993 10 51049027 [A/G] NM_003631 PARG Silent exm824771 10 51050028 [A/C] NM_003631 PARG EXON Missense_V837L exm2271288 10 51503335 [T/C] exm-rs3123078 10 51524971 [T/C] exm-rs10993994 10 51549496 [T/C] exm824926 10 51555807 [A/G] NM_002443,NM_138634 MSMB,MSMB EXON Missense_N27S,Missense_N27S exm824928 10 51556831 [A/G] NM_002443,NM_138634 MSMB,MSMB EXON Missense_E64K,Silent exm824935 10 51568378 [T/G] NM_001145261,NM_001145263,NM_001145260 NCOA4,NCOA4,NCOA4 EXON Missense_F8V,Silent,Missense_F8V exm2217273 10 51582800 [T/C] NM_001145261,NM_001145263,NM_001145260,NM_005437,NM_001145262 NCOA4,NCOA4,NCOA4,NCOA4,NCOA4 EXON Missense_S208L,Missense_S192L,Missense_S208L,Missense_S192L,Missense_S192L exm824961 10 51582911 [T/C] NM_001145261,NM_001145263,NM_001145260,NM_005437,NM_001145262 NCOA4,NCOA4,NCOA4,NCOA4,NCOA4 EXON Missense_T245I,Missense_T229I,Missense_T245I,Missense_T229I,Missense_T229I exm824963 10 51584644 [A/G] NM_001145261,NM_001145263,NM_001145260,NM_005437,NM_001145262 NCOA4,NCOA4,NCOA4,NCOA4,NCOA4 EXON Missense_N264S,Missense_N248S,Missense_N264S,Missense_N248S,Missense_N248S exm1681184 10 51584682 [T/C] NM_001145261,NM_001145263,NM_001145260,NM_005437,NM_001145262 NCOA4,NCOA4,NCOA4,NCOA4,NCOA4 EXON Missense_L277F,Missense_L261F,Missense_L277F,Missense_L261F,Missense_L261F exm824995 10 51585310 [A/G] NM_001145261,NM_001145263,NM_001145260,NM_005437,NM_001145262 NCOA4,NCOA4,NCOA4,NCOA4,NCOA4 EXON Missense_Q486R,Missense_Q470R,Missense_Q486R,Missense_Q470R,Missense_Q470R exm824997 10 51585348 [A/G] NM_001145261,NM_001145263,NM_001145260,NM_005437,NM_001145262 NCOA4,NCOA4,NCOA4,NCOA4,NCOA4 EXON Missense_A499T,Missense_A483T,Missense_A499T,Missense_A483T,Missense_A483T exm825001 10 51585586 [A/G] NM_001145261,NM_001145263,NM_001145260,NM_005437,NM_001145262 NCOA4,NCOA4,NCOA4,NCOA4,NCOA4 EXON Missense_R578Q,Missense_R562Q,Missense_R578Q,Missense_R562Q,Missense_R562Q exm825007 10 51586410 [A/C] NM_001145261,NM_001145263,NM_001145260,NM_005437,NM_001145262 NCOA4,NCOA4,NCOA4,NCOA4,NCOA4 EXON Missense_Q629P,Missense_Q613P,Missense_Q629P,Missense_Q613P,Missense_Q613P exm825016 10 51592523 [A/G] NR_073030,NM_006327,NR_073029 TIMM23,TIMM23,TIMM23 EXON Silent,Missense_L204S,Silent exm825023 10 51592586 [A/G] NR_073030,NM_006327,NR_073029 TIMM23,TIMM23,TIMM23 EXON Silent,Missense_T183I,Silent exm-rs7085433 10 51593354 [A/G] NR_073030,NM_006327,NR_073029 TIMM23,TIMM23,TIMM23 EXON Silent,Silent,Silent exm825180 10 52003093 [T/C] NM_019893,NM_001143974 ASAH2,ASAH2 EXON Missense_G127S,Missense_G127S exm825192 10 52005095 [A/G] NM_019893,NM_001143974 ASAH2,ASAH2 EXON Nonsense_Q83X,Nonsense_Q83X exm825198 10 52005152 [T/C] NM_019893,NM_001143974 ASAH2,ASAH2 EXON Missense_A64T,Missense_A64T exm825201 10 52005191 [T/C] NM_019893,NM_001143974 ASAH2,ASAH2 EXON Missense_T51A,Missense_T51A exm825203 10 52008258 [A/G] NM_019893,NM_001143974 ASAH2,ASAH2 EXON Missense_I38T,Missense_I38T exm2271398 10 52043987 [T/C] exm825231 10 52103414 [A/G] NM_147156 SGMS1 EXON Missense_S154L exm825235 10 52103564 [G/C] NM_147156 SGMS1 EXON Missense_P104R exm2266994 10 52103707 [A/G] NM_147156 SGMS1 EXON Synonymous_N56N exm825244 10 52103733 [A/G] NM_147156 SGMS1 EXON Missense_P48S exm2217279 10 52350006 [T/C] NM_147156 SGMS1 EXON Silent exm825278 10 52566611 [T/C] NM_001198820,NM_014576,NM_001198819,NM_001198818,NM_138932,NM_138933 A1CF,A1CF,A1CF,A1CF,A1CF,A1CF EXON Missense_V555M,Missense_V547M,Missense_V563M,Missense_V547M,Missense_V555M,Missense_V555M exm825297 10 52573772 [T/C] NM_001198820,NM_014576,NM_001198819,NM_001198818,NM_138932,NM_138933 A1CF,A1CF,A1CF,A1CF,A1CF,A1CF EXON Missense_G398S,Missense_G390S,Missense_G406S,Missense_G390S,Missense_G398S,Missense_G398S exm1681330 10 52575814 [T/G] NM_001198820,NM_014576,NM_001198819,NM_001198818,NM_138932,NM_138933 A1CF,A1CF,A1CF,A1CF,A1CF,A1CF EXON Missense_K373Q,Missense_K365Q,Missense_K373Q,Missense_K365Q,Missense_K365Q,Missense_K373Q exm825329 10 52595978 [A/G] NM_001198820,NM_014576,NM_001198819,NM_001198818,NM_138932,NM_138933 A1CF,A1CF,A1CF,A1CF,A1CF,A1CF EXON Missense_S162P,Missense_S154P,Missense_S162P,Missense_S154P,Missense_S154P,Missense_S162P exm825334 10 52601645 [G/C] NM_001198820,NM_014576,NM_001198819,NM_001198818,NM_138932,NM_138933 A1CF,A1CF,A1CF,A1CF,A1CF,A1CF EXON Missense_K122N,Missense_K114N,Missense_K122N,Missense_K114N,Missense_K114N,Missense_K122N exm825351 10 52751151 [C/G] NM_001098512 PRKG1 EXON Missense_E5Q exm825353 10 52751177 [A/G] NM_001098512 PRKG1 EXON Missense_M13I exm2259603 10 52897074 [A/G] NM_001098512,NM_006258 PRKG1,PRKG1 Silent,Silent exm2249274 10 52949162 [T/G] NM_001098512,NM_006258 PRKG1,PRKG1 Silent,Silent exm825392 10 53457688 [A/C] NM_001098512,NM_006258,NM_015235 PRKG1,PRKG1,CSTF2T EXON Silent,Silent,Missense_G541V exm825406 10 53458049 [A/G] NM_001098512,NM_006258,NM_015235 PRKG1,PRKG1,CSTF2T EXON Silent,Silent,Missense_R421C exm825407 10 53458060 [A/G] NM_001098512,NM_006258,NM_015235 PRKG1,PRKG1,CSTF2T EXON Silent,Silent,Missense_A417V exm825419 10 53458456 [C/G] NM_001098512,NM_006258,NM_015235 PRKG1,PRKG1,CSTF2T EXON Silent,Silent,Missense_A285G exm825425 10 53458628 [T/G] NM_001098512,NM_006258,NM_015235 PRKG1,PRKG1,CSTF2T EXON Silent,Silent,Missense_L228M exm825426 10 53458646 [A/C] NM_001098512,NM_006258,NM_015235 PRKG1,PRKG1,CSTF2T EXON Silent,Silent,Missense_C222G exm825429 10 53458664 [T/C] NM_001098512,NM_006258,NM_015235 PRKG1,PRKG1,CSTF2T EXON Silent,Silent,Missense_G216S exm2266995 10 53657085 [A/G] NM_001098512,NM_006258 PRKG1,PRKG1 Silent,Silent exm825455 10 53814271 [A/G] NM_001098512,NM_006258 PRKG1,PRKG1 EXON Missense_I249V,Missense_I264V exm825459 10 53822301 [A/G] NM_001098512,NM_006258 PRKG1,PRKG1 EXON Missense_N267S,Missense_N282S exm825466 10 53893644 [A/C] NM_001098512,NM_006258 PRKG1,PRKG1 EXON Missense_T312N,Missense_T327N exm2266996 10 53954192 [A/G] NM_001098512,NM_006258 PRKG1,PRKG1 Silent,Silent exm825486 10 54040611 [T/A] NM_001098512,NM_006258 PRKG1,PRKG1 EXON Missense_Y474F,Missense_Y489F exm825488 10 54040670 [T/C] NM_001098512,NM_006258 PRKG1,PRKG1 EXON Missense_H494Y,Missense_H509Y exm825512 10 54074240 [A/C] NM_012242 DKK1 EXON Missense_M16L exm825529 10 54074798 [T/G] NM_012242 DKK1 EXON Missense_R120L exm825534 10 54076118 [T/G] NM_012242 DKK1 EXON Missense_S157I exm2249277 10 54076453 [T/C] NM_012242 DKK1 EXON Synonymous_H229H exm825542 10 54076503 [A/G] NM_012242 DKK1 EXON Missense_R246Q exm825543 10 54076522 [A/T] NM_012242 DKK1 EXON Missense_H252Q exm-rs1733724 10 54223977 [A/G] exm2249278 10 54417882 [T/C] exm825553 10 54528016 [A/C] NM_000242 MBL2 EXON Nonsense_E210X exm825560 10 54528195 [T/G] NM_000242 MBL2 EXON Missense_K150T exm825567 10 54529019 [A/G] NM_000242 MBL2 EXON Missense_R121C exm825572 10 54530432 [A/G] NM_000242 MBL2 EXON Missense_P101L exm825575 10 54531226 [T/C] NM_000242 MBL2 EXON Missense_G57E exm825576 10 54531235 [T/C] NM_000242 MBL2 EXON Missense_G54D exm1681477 10 54531241 [T/C] NM_000242 MBL2 EXON Missense_R52H exm825577 10 54531242 [A/G] NM_000242 MBL2 EXON Missense_R52C exm825580 10 54531278 [A/C] NM_000242 MBL2 EXON Missense_S40A exm825586 10 54531361 [A/C] NM_000242 MBL2 EXON Missense_L12R exm825587 10 54531362 [C/G] NM_000242 MBL2 EXON Missense_L12V exm2264387 10 54863115 [A/C] exm-rs583012 10 55294874 [A/G] exm2267101 10 55296717 [A/G] exm2271292 10 55477195 [T/C] exm825593 10 55566406 [T/G] NM_001142772,NM_001142771 PCDH15,PCDH15 EXON Missense_Q1656P,Missense_Q1661P exm825609 10 55566761 [T/C] NM_001142772,NM_001142771 PCDH15,PCDH15 EXON Missense_G1538S,Missense_G1543S exm825615 10 55568454 [A/G] NM_001142772,NM_001142771,NM_001142770,NM_001142769 PCDH15,PCDH15,PCDH15,PCDH15 EXON Silent,Silent,Silent,Missense_X1791R exm825622 10 55568589 [T/C] NM_001142772,NM_001142771,NM_001142770,NM_001142769 PCDH15,PCDH15,PCDH15,PCDH15 EXON Silent,Silent,Silent,Missense_G1746S exm825629 10 55568876 [A/G] NM_001142772,NM_001142771,NM_001142770,NM_001142769 PCDH15,PCDH15,PCDH15,PCDH15 EXON Silent,Silent,Silent,Missense_S1650L exm825630 10 55568878 [T/G] NM_001142772,NM_001142771,NM_001142770,NM_001142769 PCDH15,PCDH15,PCDH15,PCDH15 EXON Silent,Silent,Silent,Missense_E1649D exm825634 10 55568972 [T/G] NM_001142772,NM_001142771,NM_001142770,NM_001142769 PCDH15,PCDH15,PCDH15,PCDH15 EXON Silent,Silent,Silent,Missense_E1618A exm825644 10 55569207 [A/G] NM_001142772,NM_001142771,NM_001142770,NM_001142769 PCDH15,PCDH15,PCDH15,PCDH15 EXON Silent,Silent,Silent,Missense_P1540S exm825647 10 55569263 [T/G] NM_001142772,NM_001142771,NM_001142770,NM_001142769 PCDH15,PCDH15,PCDH15,PCDH15 EXON Silent,Silent,Missense_S1533R,Missense_E1521A exm1681531 10 55569264 [T/C] NM_001142772,NM_001142771,NM_001142770,NM_001142769 PCDH15,PCDH15,PCDH15,PCDH15 EXON Silent,Silent,Synonymous_E1532E,Missense_E1521K exm1681532 10 55569270 [T/C] NM_001142772,NM_001142771,NM_001142770,NM_001142769 PCDH15,PCDH15,PCDH15,PCDH15 EXON Silent,Silent,Synonymous_K1530K,Missense_I1519V exm825650 10 55570343 [T/C] NM_001142772,NM_001142771,NM_001142770,NM_001142769 PCDH15,PCDH15,PCDH15,PCDH15 EXON Synonymous_E1485E,Synonymous_E1490E,Missense_K1509R,Synonymous_E1497E exm825651 10 55570347 [T/C] NM_001142772,NM_001142771,NM_001142770,NM_001142769 PCDH15,PCDH15,PCDH15,PCDH15 EXON Missense_G1484D,Missense_G1489D,Missense_V1508M,Missense_G1496D exm825665 10 55581779 [T/C] NM_001142772,NM_001142771,NM_001142770,NM_001142769,NM_001142763,NM_001142767,NM_033056,NM_001142766,NM_001142764,NM_001142765,NM_001142768,NM_001142773 PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15 EXON Silent,Silent,Silent,Silent,Missense_I1910V,Missense_I1863V,Missense_I1903V,Missense_I1900V,Missense_I1905V,Missense_I1834V,Missense_I1883V,Missense_I1880V exm825669 10 55581883 [A/G] NM_001142772,NM_001142771,NM_001142770,NM_001142769,NM_001142763,NM_001142767,NM_033056,NM_001142766,NM_001142764,NM_001142765,NM_001142768,NM_001142773 PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15 EXON Silent,Silent,Silent,Silent,Missense_T1875M,Missense_T1828M,Missense_T1868M,Missense_T1865M,Missense_T1870M,Missense_T1799M,Missense_T1848M,Missense_T1845M exm825671 10 55581929 [T/G] NM_001142772,NM_001142771,NM_001142770,NM_001142769,NM_001142763,NM_001142767,NM_033056,NM_001142766,NM_001142764,NM_001142765,NM_001142768,NM_001142773 PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15 EXON Silent,Silent,Silent,Silent,Missense_M1860L,Missense_M1813L,Missense_M1853L,Missense_M1850L,Missense_M1855L,Missense_M1784L,Missense_M1833L,Missense_M1830L exm825679 10 55582082 [T/C] NM_001142772,NM_001142771,NM_001142770,NM_001142769,NM_001142763,NM_001142767,NM_033056,NM_001142766,NM_001142764,NM_001142765,NM_001142768,NM_001142773 PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15 EXON Silent,Silent,Silent,Silent,Missense_T1809A,Missense_T1762A,Missense_T1802A,Missense_T1799A,Missense_T1804A,Missense_T1733A,Missense_T1782A,Missense_T1779A exm825680 10 55582088 [T/C] NM_001142772,NM_001142771,NM_001142770,NM_001142769,NM_001142763,NM_001142767,NM_033056,NM_001142766,NM_001142764,NM_001142765,NM_001142768,NM_001142773 PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15 EXON Silent,Silent,Silent,Silent,Missense_V1807I,Missense_V1760I,Missense_V1800I,Missense_V1797I,Missense_V1802I,Missense_V1731I,Missense_V1780I,Missense_V1777I exm825688 10 55582127 [A/G] NM_001142772,NM_001142771,NM_001142770,NM_001142769,NM_001142763,NM_001142767,NM_033056,NM_001142766,NM_001142764,NM_001142765,NM_001142768,NM_001142773 PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15 EXON Silent,Silent,Silent,Silent,Missense_P1794S,Missense_P1747S,Missense_P1787S,Missense_P1784S,Missense_P1789S,Missense_P1718S,Missense_P1767S,Missense_P1764S exm825690 10 55582133 [A/G] NM_001142772,NM_001142771,NM_001142770,NM_001142769,NM_001142763,NM_001142767,NM_033056,NM_001142766,NM_001142764,NM_001142765,NM_001142768,NM_001142773 PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15 EXON Silent,Silent,Silent,Silent,Missense_S1792P,Missense_S1745P,Missense_S1785P,Missense_S1782P,Missense_S1787P,Missense_S1716P,Missense_S1765P,Missense_S1762P exm825706 10 55582205 [A/C] NM_001142772,NM_001142771,NM_001142770,NM_001142769,NM_001142763,NM_001142767,NM_033056,NM_001142766,NM_001142764,NM_001142765,NM_001142768,NM_001142773 PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15 EXON Silent,Silent,Silent,Silent,Missense_A1768S,Missense_A1721S,Missense_A1761S,Missense_A1758S,Missense_A1763S,Missense_A1692S,Missense_A1741S,Missense_A1738S exm825714 10 55582442 [T/C] NM_001142772,NM_001142771,NM_001142770,NM_001142769,NM_001142763,NM_001142767,NM_033056,NM_001142766,NM_001142764,NM_001142765,NM_001142768,NM_001142773 PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15 EXON Silent,Silent,Silent,Silent,Missense_E1689K,Missense_E1642K,Missense_E1682K,Missense_E1679K,Missense_E1684K,Missense_E1613K,Missense_E1662K,Missense_E1659K exm825716 10 55582453 [A/G] NM_001142772,NM_001142771,NM_001142770,NM_001142769,NM_001142763,NM_001142767,NM_033056,NM_001142766,NM_001142764,NM_001142765,NM_001142768,NM_001142773 PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15 EXON Silent,Silent,Silent,Silent,Missense_S1685L,Missense_S1638L,Missense_S1678L,Missense_S1675L,Missense_S1680L,Missense_S1609L,Missense_S1658L,Missense_S1655L exm825719 10 55582594 [T/G] NM_001142772,NM_001142771,NM_001142770,NM_001142769,NM_001142763,NM_001142767,NM_033056,NM_001142766,NM_001142764,NM_001142765,NM_001142768,NM_001142773 PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15 EXON Silent,Silent,Silent,Silent,Missense_A1638E,Missense_A1591E,Missense_A1631E,Missense_A1628E,Missense_A1633E,Missense_A1562E,Missense_A1611E,Missense_A1608E exm825722 10 55582636 [T/C] NM_001142772,NM_001142771,NM_001142770,NM_001142769,NM_001142763,NM_001142767,NM_033056,NM_001142766,NM_001142764,NM_001142765,NM_001142768,NM_001142773 PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15 EXON Silent,Silent,Silent,Silent,Missense_N1624S,Missense_N1577S,Missense_N1617S,Missense_N1614S,Missense_N1619S,Missense_N1548S,Missense_N1597S,Missense_N1594S exm825723 10 55582674 [A/C] NM_001142772,NM_001142771,NM_001142770,NM_001142769,NM_001142763,NM_001142767,NM_033056,NM_001142766,NM_001142764,NM_001142765,NM_001142768,NM_001142773 PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15 EXON Silent,Silent,Silent,Silent,Missense_R1611S,Missense_R1564S,Missense_R1604S,Missense_R1601S,Missense_R1606S,Missense_R1535S,Missense_R1584S,Missense_R1581S exm825727 10 55582714 [T/C] NM_001142772,NM_001142771,NM_001142770,NM_001142769,NM_001142763,NM_001142767,NM_033056,NM_001142766,NM_001142764,NM_001142765,NM_001142768,NM_001142773 PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15 EXON Silent,Silent,Silent,Silent,Missense_R1598K,Missense_R1551K,Missense_R1591K,Missense_R1588K,Missense_R1593K,Missense_R1522K,Missense_R1571K,Missense_R1568K exm825731 10 55582753 [A/G] NM_001142772,NM_001142771,NM_001142770,NM_001142769,NM_001142763,NM_001142767,NM_033056,NM_001142766,NM_001142764,NM_001142765,NM_001142768,NM_001142773 PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15 EXON Silent,Silent,Silent,Silent,Missense_V1585A,Missense_V1538A,Missense_V1578A,Missense_V1575A,Missense_V1580A,Missense_V1509A,Missense_V1558A,Missense_V1555A exm825755 10 55587186 [G/C] NM_001142772,NM_001142771,NM_001142770,NM_001142769,NM_001142763,NM_001142767,NM_033056,NM_001142766,NM_001142764,NM_001142765,NM_001142768,NM_001142773 PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15 EXON Missense_A1445G,Missense_A1450G,Missense_A1445G,Missense_A1457G,Missense_A1450G,Missense_A1405G,Missense_A1445G,Missense_A1442G,Missense_A1445G,Missense_A1374G,Missense_A1423G,Missense_A1420G exm825772 10 55591253 [T/G] NM_001142772,NM_001142771,NM_001142770,NM_001142769,NM_001142763,NM_001142767,NM_033056,NM_001142766,NM_001142764,NM_001142765,NM_001142768,NM_001142773 PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15 EXON Missense_Q1342K,Missense_Q1347K,Missense_Q1342K,Missense_Q1354K,Missense_Q1347K,Missense_Q1305K,Missense_Q1342K,Missense_Q1342K,Missense_Q1342K,Missense_Q1271K,Missense_Q1320K,Missense_Q1320K exm825785 10 55600246 [T/G] NM_001142772,NM_001142771,NM_001142770,NM_001142769,NM_001142763,NM_001142767,NM_033056,NM_001142766,NM_001142764,NM_001142765,NM_001142768,NM_001142773 PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15 EXON Missense_R1273S,Missense_R1278S,Missense_R1273S,Missense_R1285S,Missense_R1278S,Missense_R1236S,Missense_R1273S,Missense_R1273S,Missense_R1273S,Missense_R1202S,Missense_R1251S,Missense_R1251S exm2259606 10 55609769 [T/G] NM_001142772,NM_001142771,NM_001142770,NM_001142769,NM_001142763,NM_001142767,NM_033056,NM_001142766,NM_001142764,NM_001142765,NM_001142768,NM_001142773 PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm825788 10 55616946 [T/A] NM_001142772,NM_001142771,NM_001142770,NM_001142769,NM_001142763,NM_001142767,NM_033056,NM_001142766,NM_001142764,NM_001142765,NM_001142768,NM_001142773 PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15 EXON Missense_E1265D,Missense_E1270D,Missense_E1265D,Missense_E1277D,Missense_E1270D,Missense_E1228D,Missense_E1265D,Missense_E1265D,Missense_E1265D,Missense_E1194D,Missense_E1243D,Missense_E1243D exm1681561 10 55617017 [T/C] NM_001142772,NM_001142771,NM_001142770,NM_001142769,NM_001142763,NM_001142767,NM_033056,NM_001142766,NM_001142764,NM_001142765,NM_001142768,NM_001142773 PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15 EXON Missense_V1242M,Missense_V1247M,Missense_V1242M,Missense_V1254M,Missense_V1247M,Missense_V1205M,Missense_V1242M,Missense_V1242M,Missense_V1242M,Missense_V1171M,Missense_V1220M,Missense_V1220M exm825798 10 55626587 [T/C] NM_001142772,NM_001142771,NM_001142770,NM_001142769,NM_001142763,NM_001142767,NM_033056,NM_001142766,NM_001142764,NM_001142765,NM_001142768,NM_001142773 PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15 EXON Missense_V1178I,Missense_V1183I,Missense_V1178I,Missense_V1190I,Missense_V1183I,Missense_V1141I,Missense_V1178I,Missense_V1178I,Missense_V1178I,Missense_V1107I,Missense_V1156I,Missense_V1156I exm825799 10 55626598 [T/C] NM_001142772,NM_001142771,NM_001142770,NM_001142769,NM_001142763,NM_001142767,NM_033056,NM_001142766,NM_001142764,NM_001142765,NM_001142768,NM_001142773 PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15 EXON Missense_G1174D,Missense_G1179D,Missense_G1174D,Missense_G1186D,Missense_G1179D,Missense_G1137D,Missense_G1174D,Missense_G1174D,Missense_G1174D,Missense_G1103D,Missense_G1152D,Missense_G1152D exm825803 10 55663053 [T/C] NM_001142772,NM_001142771,NM_001142770,NM_001142769,NM_001142763,NM_001142767,NM_033056,NM_001142766,NM_001142764,NM_001142765,NM_001142768,NM_001142773 PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15 EXON Missense_G1151R,Missense_G1156R,Missense_G1151R,Missense_G1163R,Missense_G1156R,Missense_G1114R,Missense_G1151R,Missense_G1151R,Missense_G1151R,Missense_G1080R,Missense_G1129R,Missense_G1129R exm825812 10 55698632 [A/G] NM_001142772,NM_001142771,NM_001142770,NM_001142769,NM_001142763,NM_001142767,NM_033056,NM_001142766,NM_001142764,NM_001142765,NM_001142768,NM_001142773 PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15 EXON Nonsense_R1106X,Nonsense_R1111X,Nonsense_R1106X,Nonsense_R1118X,Nonsense_R1111X,Nonsense_R1069X,Nonsense_R1106X,Nonsense_R1106X,Nonsense_R1106X,Nonsense_R1035X,Nonsense_R1084X,Nonsense_R1084X exm2217292 10 55700731 [A/G] NM_001142772,NM_001142771,NM_001142770,NM_001142769,NM_001142763,NM_001142767,NM_033056,NM_001142766,NM_001142764,NM_001142765,NM_001142768,NM_001142773 PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15 EXON Missense_P1043S,Missense_P1048S,Missense_P1043S,Missense_P1055S,Missense_P1048S,Missense_P1006S,Missense_P1043S,Missense_P1043S,Missense_P1043S,Missense_P972S,Missense_P1021S,Missense_P1021S exm825826 10 55721531 [T/C] NM_001142772,NM_001142771,NM_001142770,NM_001142769,NM_001142763,NM_001142767,NM_033056,NM_001142766,NM_001142764,NM_001142765,NM_001142768,NM_001142773 PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15 EXON Missense_E997G,Missense_E1002G,Missense_E997G,Missense_E1009G,Missense_E1002G,Missense_E960G,Missense_E997G,Missense_E997G,Missense_E997G,Missense_E926G,Missense_E975G,Missense_E975G exm825830 10 55721600 [T/G] NM_001142772,NM_001142771,NM_001142770,NM_001142769,NM_001142763,NM_001142767,NM_033056,NM_001142766,NM_001142764,NM_001142765,NM_001142768,NM_001142773 PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15 EXON Missense_Y974S,Missense_Y979S,Missense_Y974S,Missense_Y986S,Missense_Y979S,Missense_Y937S,Missense_Y974S,Missense_Y974S,Missense_Y974S,Missense_Y903S,Missense_Y952S,Missense_Y952S exm825831 10 55721613 [T/C] NM_001142772,NM_001142771,NM_001142770,NM_001142769,NM_001142763,NM_001142767,NM_033056,NM_001142766,NM_001142764,NM_001142765,NM_001142768,NM_001142773 PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15 EXON Missense_V970I,Missense_V975I,Missense_V970I,Missense_V982I,Missense_V975I,Missense_V933I,Missense_V970I,Missense_V970I,Missense_V970I,Missense_V899I,Missense_V948I,Missense_V948I exm825832 10 55721630 [T/C] NM_001142772,NM_001142771,NM_001142770,NM_001142769,NM_001142763,NM_001142767,NM_033056,NM_001142766,NM_001142764,NM_001142765,NM_001142768,NM_001142773 PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15 EXON Missense_R964K,Missense_R969K,Missense_R964K,Missense_R976K,Missense_R969K,Missense_R927K,Missense_R964K,Missense_R964K,Missense_R964K,Missense_R893K,Missense_R942K,Missense_R942K exm2276105 10 55721636 [A/C] NM_001142772,NM_001142771,NM_001142770,NM_001142769,NM_001142763,NM_001142767,NM_033056,NM_001142766,NM_001142764,NM_001142765,NM_001142768,NM_001142773 PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15 EXON Missense_R962L,Missense_R967L,Missense_R962L,Missense_R974L,Missense_R967L,Missense_R925L,Missense_R962L,Missense_R962L,Missense_R962L,Missense_R891L,Missense_R940L,Missense_R940L exm1681595 10 55721637 [A/G] NM_001142772,NM_001142771,NM_001142770,NM_001142769,NM_001142763,NM_001142767,NM_033056,NM_001142766,NM_001142764,NM_001142765,NM_001142768,NM_001142773 PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15 EXON Missense_R962C,Missense_R967C,Missense_R962C,Missense_R974C,Missense_R967C,Missense_R925C,Missense_R962C,Missense_R962C,Missense_R962C,Missense_R891C,Missense_R940C,Missense_R940C exm825837 10 55755491 [T/C] NM_001142772,NM_001142771,NM_001142770,NM_001142769,NM_001142763,NM_001142767,NM_033056,NM_001142766,NM_001142764,NM_001142765,NM_001142768,NM_001142773 PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15 EXON Missense_R929Q,Missense_R934Q,Missense_R929Q,Missense_R941Q,Missense_R934Q,Missense_R892Q,Missense_R929Q,Missense_R929Q,Missense_R929Q,Missense_R858Q,Missense_R907Q,Missense_R907Q exm1681598 10 55755509 [A/G] NM_001142772,NM_001142771,NM_001142770,NM_001142769,NM_001142763,NM_001142767,NM_033056,NM_001142766,NM_001142764,NM_001142765,NM_001142768,NM_001142773 PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15 EXON Missense_P923L,Missense_P928L,Missense_P923L,Missense_P935L,Missense_P928L,Missense_P886L,Missense_P923L,Missense_P923L,Missense_P923L,Missense_P852L,Missense_P901L,Missense_P901L exm825842 10 55779975 [A/C] NM_001142772,NM_001142771,NM_001142770,NM_001142769,NM_001142763,NM_001142767,NM_033056,NM_001142766,NM_001142764,NM_001142765,NM_001142768,NM_001142773 PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15 EXON Missense_A910S,Missense_A915S,Missense_A910S,Missense_A922S,Missense_A915S,Missense_A873S,Missense_A910S,Missense_A910S,Missense_A910S,Missense_A839S,Missense_A888S,Missense_A888S exm825849 10 55780122 [T/C] NM_001142772,NM_001142771,NM_001142770,NM_001142769,NM_001142763,NM_001142767,NM_033056,NM_001142766,NM_001142764,NM_001142765,NM_001142768,NM_001142773 PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15 EXON Missense_V861M,Missense_V866M,Missense_V861M,Missense_V873M,Missense_V866M,Missense_V824M,Missense_V861M,Missense_V861M,Missense_V861M,Missense_V790M,Missense_V839M,Missense_V839M exm825851 10 55780140 [A/G] NM_001142772,NM_001142771,NM_001142770,NM_001142769,NM_001142763,NM_001142767,NM_033056,NM_001142766,NM_001142764,NM_001142765,NM_001142768,NM_001142773 PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15 EXON Missense_R855W,Missense_R860W,Missense_R855W,Missense_R867W,Missense_R860W,Missense_R818W,Missense_R855W,Missense_R855W,Missense_R855W,Missense_R784W,Missense_R833W,Missense_R833W exm825855 10 55782665 [A/G] NM_001142772,NM_001142771,NM_001142770,NM_001142769,NM_001142763,NM_001142767,NM_033056,NM_001142766,NM_001142764,NM_001142765,NM_001142768,NM_001142773 PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15 EXON Missense_I838T,Missense_I843T,Missense_I838T,Missense_I850T,Missense_I843T,Missense_I801T,Missense_I838T,Missense_I838T,Missense_I838T,Missense_I767T,Missense_I816T,Missense_I816T exm825858 10 55782743 [A/G] NM_001142772,NM_001142771,NM_001142770,NM_001142769,NM_001142763,NM_001142767,NM_033056,NM_001142766,NM_001142764,NM_001142765,NM_001142768,NM_001142773 PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15 EXON Missense_I812T,Missense_I817T,Missense_I812T,Missense_I824T,Missense_I817T,Missense_I775T,Missense_I812T,Missense_I812T,Missense_I812T,Missense_I741T,Missense_I790T,Missense_I790T exm825867 10 55782888 [A/G] NM_001142772,NM_001142771,NM_001142770,NM_001142769,NM_001142763,NM_001142767,NM_033056,NM_001142766,NM_001142764,NM_001142765,NM_001142768,NM_001142773 PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15 EXON Missense_R764C,Missense_R769C,Missense_R764C,Missense_R776C,Missense_R769C,Missense_R727C,Missense_R764C,Missense_R764C,Missense_R764C,Missense_R693C,Missense_R742C,Missense_R742C exm825882 10 55849744 [A/G] NM_001142772,NM_001142771,NM_001142770,NM_001142769,NM_001142763,NM_001142767,NM_033056,NM_001142766,NM_001142764,NM_001142765,NM_001142768,NM_001142773 PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15 EXON Missense_T666I,Missense_T671I,Missense_T666I,Missense_T678I,Missense_T671I,Missense_T629I,Missense_T666I,Missense_T666I,Missense_T666I,Silent,Missense_T644I,Missense_T644I exm825888 10 55892642 [T/C] NM_001142772,NM_001142771,NM_001142770,NM_001142769,NM_001142763,NM_001142767,NM_033056,NM_001142766,NM_001142764,NM_001142765,NM_001142768,NM_001142773 PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15 EXON Missense_N637S,Missense_N642S,Missense_N637S,Missense_N649S,Missense_N642S,Missense_N600S,Missense_N637S,Missense_N637S,Missense_N637S,Silent,Missense_N615S,Missense_N615S exm825889 10 55892652 [T/C] NM_001142772,NM_001142771,NM_001142770,NM_001142769,NM_001142763,NM_001142767,NM_033056,NM_001142766,NM_001142764,NM_001142765,NM_001142768,NM_001142773 PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15 EXON Missense_V634I,Missense_V639I,Missense_V634I,Missense_V646I,Missense_V639I,Missense_V597I,Missense_V634I,Missense_V634I,Missense_V634I,Silent,Missense_V612I,Missense_V612I exm825894 10 55912882 [T/C] NM_001142772,NM_001142771,NM_001142770,NM_001142769,NM_001142763,NM_001142767,NM_033056,NM_001142766,NM_001142764,NM_001142765,NM_001142768,NM_001142773 PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15 EXON Missense_N588D,Missense_N593D,Missense_N588D,Missense_N600D,Missense_N593D,Missense_N551D,Missense_N588D,Missense_N588D,Missense_N588D,Missense_N588D,Missense_N566D,Missense_N566D exm825898 10 55912942 [T/C] NM_001142772,NM_001142771,NM_001142770,NM_001142769,NM_001142763,NM_001142767,NM_033056,NM_001142766,NM_001142764,NM_001142765,NM_001142768,NM_001142773 PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15 EXON Missense_A568T,Missense_A573T,Missense_A568T,Missense_A580T,Missense_A573T,Missense_A531T,Missense_A568T,Missense_A568T,Missense_A568T,Missense_A568T,Missense_A546T,Missense_A546T exm825921 10 55944974 [T/C] NM_001142772,NM_001142771,NM_001142770,NM_001142769,NM_001142763,NM_001142767,NM_033056,NM_001142766,NM_001142764,NM_001142765,NM_001142768,NM_001142773 PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15 EXON Missense_V454I,Missense_V459I,Missense_V454I,Missense_V466I,Missense_V459I,Missense_V417I,Missense_V454I,Missense_V454I,Missense_V454I,Missense_V454I,Missense_V432I,Missense_V432I exm825927 10 55949144 [T/C] NM_001142772,NM_001142771,NM_001142770,NM_001142769,NM_001142763,NM_001142767,NM_033056,NM_001142766,NM_001142764,NM_001142765,NM_001142768,NM_001142773 PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15 EXON Silent,Silent,Silent,Missense_V441I,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm825931 10 55955444 [T/G] NM_001142772,NM_001142771,NM_001142770,NM_001142769,NM_001142763,NM_001142767,NM_033056,NM_001142766,NM_001142764,NM_001142765,NM_001142768,NM_001142773 PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15 EXON Missense_D435A,Missense_D440A,Missense_D435A,Missense_D440A,Missense_D440A,Missense_D398A,Missense_D435A,Missense_D435A,Missense_D435A,Missense_D435A,Missense_D413A,Missense_D413A exm825935 10 55955492 [T/C] NM_001142772,NM_001142771,NM_001142770,NM_001142769,NM_001142763,NM_001142767,NM_033056,NM_001142766,NM_001142764,NM_001142765,NM_001142768,NM_001142773 PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15 EXON Missense_N419S,Missense_N424S,Missense_N419S,Missense_N424S,Missense_N424S,Missense_N382S,Missense_N419S,Missense_N419S,Missense_N419S,Missense_N419S,Missense_N397S,Missense_N397S exm825938 10 55955543 [C/G] NM_001142772,NM_001142771,NM_001142770,NM_001142769,NM_001142763,NM_001142767,NM_033056,NM_001142766,NM_001142764,NM_001142765,NM_001142768,NM_001142773 PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15 EXON Missense_G402A,Missense_G407A,Missense_G402A,Missense_G407A,Missense_G407A,Missense_G365A,Missense_G402A,Missense_G402A,Missense_G402A,Missense_G402A,Missense_G380A,Missense_G380A exm825939 10 55955553 [T/C] NM_001142772,NM_001142771,NM_001142770,NM_001142769,NM_001142763,NM_001142767,NM_033056,NM_001142766,NM_001142764,NM_001142765,NM_001142768,NM_001142773 PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15 EXON Missense_S399G,Missense_S404G,Missense_S399G,Missense_S404G,Missense_S404G,Missense_S362G,Missense_S399G,Missense_S399G,Missense_S399G,Missense_S399G,Missense_S377G,Missense_S377G exm825941 10 55955567 [T/C] NM_001142772,NM_001142771,NM_001142770,NM_001142769,NM_001142763,NM_001142767,NM_033056,NM_001142766,NM_001142764,NM_001142765,NM_001142768,NM_001142773 PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15 EXON Missense_Y394C,Missense_Y399C,Missense_Y394C,Missense_Y399C,Missense_Y399C,Missense_Y357C,Missense_Y394C,Missense_Y394C,Missense_Y394C,Missense_Y394C,Missense_Y372C,Missense_Y372C exm825943 10 55955610 [T/C] NM_001142772,NM_001142771,NM_001142770,NM_001142769,NM_001142763,NM_001142767,NM_033056,NM_001142766,NM_001142764,NM_001142765,NM_001142768,NM_001142773 PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15 EXON Missense_G380S,Missense_G385S,Missense_G380S,Missense_G385S,Missense_G385S,Missense_G343S,Missense_G380S,Missense_G380S,Missense_G380S,Missense_G380S,Missense_G358S,Missense_G358S exm825946 10 55973755 [A/G] NM_001142772,NM_001142771,NM_001142770,NM_001142769,NM_001142763,NM_001142767,NM_033056,NM_001142766,NM_001142764,NM_001142765,NM_001142768,NM_001142773 PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15 EXON Missense_L347F,Missense_L352F,Missense_L347F,Missense_L352F,Missense_L352F,Missense_L310F,Missense_L347F,Missense_L347F,Missense_L347F,Missense_L347F,Missense_L325F,Missense_L325F exm825947 10 55973766 [T/C] NM_001142772,NM_001142771,NM_001142770,NM_001142769,NM_001142763,NM_001142767,NM_033056,NM_001142766,NM_001142764,NM_001142765,NM_001142768,NM_001142773 PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15 EXON Missense_R343K,Missense_R348K,Missense_R343K,Missense_R348K,Missense_R348K,Missense_R306K,Missense_R343K,Missense_R343K,Missense_R343K,Missense_R343K,Missense_R321K,Missense_R321K exm825952 10 55996619 [T/A] NM_001142772,NM_001142771,NM_001142770,NM_001142769,NM_001142763,NM_001142767,NM_033056,NM_001142766,NM_001142764,NM_001142765,NM_001142768,NM_001142773 PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15 EXON Missense_S317T,Missense_S322T,Missense_S317T,Missense_S322T,Missense_S322T,Missense_S280T,Missense_S317T,Missense_S317T,Missense_S317T,Missense_S317T,Missense_S295T,Missense_S295T exm825957 10 55996655 [C/G] NM_001142772,NM_001142771,NM_001142770,NM_001142769,NM_001142763,NM_001142767,NM_033056,NM_001142766,NM_001142764,NM_001142765,NM_001142768,NM_001142773 PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15 EXON Missense_Q305E,Missense_Q310E,Missense_Q305E,Missense_Q310E,Missense_Q310E,Missense_Q268E,Missense_Q305E,Missense_Q305E,Missense_Q305E,Missense_Q305E,Missense_Q283E,Missense_Q283E exm825963 10 56077083 [T/C] NM_001142772,NM_001142771,NM_001142770,NM_001142769,NM_001142763,NM_001142767,NM_033056,NM_001142766,NM_001142764,NM_001142765,NM_001142768,NM_001142773 PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15 EXON Missense_R275H,Missense_R280H,Missense_R275H,Missense_R280H,Missense_R280H,Missense_R238H,Missense_R275H,Missense_R275H,Missense_R275H,Missense_R275H,Missense_R253H,Missense_R253H exm825973 10 56089399 [T/C] NM_001142772,NM_001142771,NM_001142770,NM_001142769,NM_001142763,NM_001142767,NM_033056,NM_001142766,NM_001142764,NM_001142765,NM_001142768,NM_001142773 PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15 EXON Missense_N221S,Missense_N226S,Missense_N221S,Missense_N226S,Missense_N226S,Silent,Missense_N221S,Missense_N221S,Missense_N221S,Missense_N221S,Missense_N199S,Missense_N199S exm825981 10 56106198 [T/C] NM_001142772,NM_001142771,NM_001142770,NM_001142769,NM_001142763,NM_001142767,NM_033056,NM_001142766,NM_001142764,NM_001142765,NM_001142768,NM_001142773 PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15 EXON Missense_N174S,Missense_N179S,Missense_N174S,Missense_N179S,Missense_N179S,Missense_N174S,Missense_N174S,Missense_N174S,Missense_N174S,Missense_N174S,Missense_N152S,Missense_N152S exm825987 10 56129011 [T/C] NM_001142772,NM_001142771,NM_001142770,NM_001142769,NM_001142763,NM_001142767,NM_033056,NM_001142766,NM_001142764,NM_001142765,NM_001142768,NM_001142773 PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15 EXON Missense_V115M,Missense_V120M,Missense_V115M,Missense_V120M,Missense_V120M,Missense_V115M,Missense_V115M,Missense_V115M,Missense_V115M,Missense_V115M,Missense_V93M,Missense_V93M exm825992 10 56138562 [T/C] NM_001142772,NM_001142771,NM_001142770,NM_001142769,NM_001142763,NM_001142767,NM_033056,NM_001142766,NM_001142764,NM_001142765,NM_001142768,NM_001142773 PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15 EXON Missense_G100R,Missense_G105R,Missense_G100R,Missense_G105R,Missense_G105R,Missense_G100R,Missense_G100R,Missense_G100R,Missense_G100R,Missense_G100R,Missense_G78R,Missense_G78R exm-rs2795918 10 56177015 [T/C] NM_001142772,NM_001142771,NM_001142770,NM_001142769,NM_001142763,NM_001142767,NM_033056,NM_001142766,NM_001142764,NM_001142765,NM_001142768,NM_001142773 PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm1681654 10 56287583 [T/C] NM_001142772,NM_001142771,NM_001142770,NM_001142769,NM_001142763,NM_001142767,NM_033056,NM_001142766,NM_001142764,NM_001142765,NM_001142768,NM_001142773 PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15 EXON Missense_E49G,Missense_E54G,Missense_E49G,Missense_E54G,Missense_E54G,Missense_E49G,Missense_E49G,Missense_E49G,Missense_E49G,Missense_E49G,Silent,Silent exm1681655 10 56287617 [T/C] NM_001142772,NM_001142771,NM_001142770,NM_001142769,NM_001142763,NM_001142767,NM_033056,NM_001142766,NM_001142764,NM_001142765,NM_001142768,NM_001142773 PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15 EXON Missense_G38R,Missense_G43R,Missense_G38R,Missense_G43R,Missense_G43R,Missense_G38R,Missense_G38R,Missense_G38R,Missense_G38R,Missense_G38R,Silent,Silent exm826003 10 56423968 [A/C] NM_001142772,NM_001142771,NM_001142770,NM_001142769,NM_001142763,NM_001142767,NM_033056,NM_001142766,NM_001142764,NM_001142765,NM_001142768,NM_001142773 PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15 EXON Missense_S19A,Missense_S19A,Missense_S19A,Missense_S19A,Missense_S19A,Missense_S19A,Missense_S19A,Missense_S19A,Missense_S19A,Missense_S19A,Missense_S19A,Missense_S19A exm-rs10740609 10 56790969 [T/A] exm2271401 10 56847522 [T/G] exm2271295 10 57105244 [T/C] exm826009 10 57359697 [T/C] NM_001190478 MTRNR2L5 EXON Missense_T13I exm-rs1916521 10 57416961 [T/C] exm2271296 10 57584038 [T/C] exm2271402 10 57650954 [T/C] exm2266997 10 58077694 [A/G] exm826017 10 58118339 [T/C] NM_001005413,NM_007057,NM_032997 ZWINT,ZWINT,ZWINT EXON Missense_R210K,Missense_R257K,Missense_R257K exm826018 10 58118357 [A/G] NM_001005413,NM_007057,NM_032997 ZWINT,ZWINT,ZWINT EXON Missense_T204I,Missense_T251I,Missense_T251I exm1681798 10 58118375 [T/C] NM_001005413,NM_007057,NM_032997 ZWINT,ZWINT,ZWINT EXON Missense_R198Q,Missense_R245Q,Missense_R245Q exm826021 10 58118390 [A/G] NM_001005413,NM_007057,NM_032997 ZWINT,ZWINT,ZWINT EXON Missense_P193L,Missense_P240L,Missense_P240L exm826022 10 58118420 [A/G] NM_001005413,NM_007057,NM_032997 ZWINT,ZWINT,ZWINT EXON Missense_A183V,Missense_A230V,Missense_A230V exm826027 10 58118582 [A/G] NM_001005413,NM_007057,NM_032997 ZWINT,ZWINT,ZWINT EXON Silent,Missense_R203W,Missense_R203W exm826029 10 58118628 [C/G] NM_001005413,NM_007057,NM_032997 ZWINT,ZWINT,ZWINT EXON Silent,Missense_R187S,Missense_R187S exm826032 10 58118659 [T/C] NM_001005413,NM_007057,NM_032997 ZWINT,ZWINT,ZWINT EXON Silent,Missense_R177H,Missense_R177H exm826047 10 58119829 [T/G] NM_001005413,NM_007057,NM_032997 ZWINT,ZWINT,ZWINT EXON Missense_Q69P,Missense_Q69P,Missense_Q69P exm826051 10 58120056 [T/C] NM_001005413,NM_007057,NM_032997 ZWINT,ZWINT,ZWINT EXON Missense_V44M,Missense_V44M,Missense_V44M exm826056 10 58120125 [G/C] NM_001005413,NM_007057,NM_032997 ZWINT,ZWINT,ZWINT EXON Missense_G21R,Missense_G21R,Missense_G21R exm826060 10 58120988 [A/C] NM_001005413,NM_007057,NM_032997 ZWINT,ZWINT,ZWINT EXON Missense_A4S,Missense_A4S,Missense_A4S exm826064 10 58121034 [A/C] NM_001005413,NM_007057,NM_032997 ZWINT,ZWINT,ZWINT EXON Silent,Silent,Silent exm2249291 10 58684269 [T/C] exm2267102 10 58773025 [A/G] exm-rs4462262 10 59189178 [T/C] exm2249292 10 59425399 [T/C] exm2259611 10 59823894 [T/C] exm-rs1819658 10 59913151 [T/C] exm826071 10 59956041 [T/C] NM_152230 IPMK EXON Missense_M349I exm826079 10 59956192 [T/C] NM_152230 IPMK EXON Missense_S299N exm1681933 10 59956304 [T/G] NM_152230 IPMK EXON Missense_Q262K exm-rs2590339 10 60012231 [T/C] NM_152230 IPMK Silent exm-rs16912145 10 60082668 [A/G] exm2249294 10 60118681 [T/C] NM_003338,NM_001204880 UBE2D1,UBE2D1 Silent,Silent exm826140 10 60121266 [A/C] NM_003338,NM_001204880 UBE2D1,UBE2D1 EXON Missense_Q34K,Silent exm826163 10 60148436 [C/G] NM_001270782,NR_073073,NM_003201 TFAM,TFAM,TFAM EXON Missense_Q100E,Silent,Missense_Q100E exm826184 10 60154790 [T/C] NM_001270782,NR_073073,NM_003201 TFAM,TFAM,TFAM EXON Missense_R201C,Silent,Missense_R233C exm826193 10 60273034 [T/C] NM_001080512 BICC1 EXON Missense_P44L exm826212 10 60546770 [A/G] NM_001080512 BICC1 EXON Missense_M159V exm2266998 10 60548276 [A/G] NM_001080512 BICC1 Silent exm826218 10 60549037 [A/G] NM_001080512 BICC1 EXON Missense_V206M exm826225 10 60549127 [A/C] NM_001080512 BICC1 EXON Missense_N236H exm826229 10 60549620 [A/G] NM_001080512 BICC1 EXON Missense_N325S exm826233 10 60549640 [A/G] NM_001080512 BICC1 EXON Missense_V332I exm826251 10 60558206 [A/G] NM_001080512 BICC1 EXON Missense_N472D exm826254 10 60558249 [A/G] NM_001080512 BICC1 EXON Missense_Q486R exm826261 10 60558909 [C/G] NM_001080512 BICC1 EXON Missense_T541R exm826265 10 60558971 [A/G] NM_001080512 BICC1 EXON Missense_E562K exm826275 10 60560050 [T/C] NM_001080512 BICC1 EXON Missense_S608P exm826282 10 60560788 [T/C] NM_001080512 BICC1 EXON Missense_T666M exm826286 10 60562867 [A/T] NM_001080512 BICC1 EXON Missense_E682D exm826292 10 60562953 [A/C] NM_001080512 BICC1 EXON Missense_N711T exm826293 10 60562980 [A/G] NM_001080512 BICC1 EXON Missense_R720Q exm2271404 10 60571435 [T/C] NM_001080512 BICC1 Silent exm826299 10 60573612 [A/G] NM_001080512 BICC1 EXON Missense_R800Q exm826303 10 60573669 [A/G] NM_001080512 BICC1 EXON Missense_R819Q exm826304 10 60573675 [A/G] NM_001080512 BICC1 EXON Missense_G821E exm826307 10 60573729 [A/G] NM_001080512 BICC1 EXON Missense_R839H exm826313 10 60577396 [A/G] NM_001080512 BICC1 EXON Missense_N870D exm826319 10 60588553 [T/C] NM_001080512 BICC1 EXON Missense_S943P exm826320 10 60588554 [T/C] NM_001080512 BICC1 EXON Missense_S943L exm826321 10 60588560 [A/G] NM_001080512 BICC1 EXON Missense_N945S exm826322 10 60588565 [T/C] NM_001080512 BICC1 EXON Missense_R947C exm826328 10 60588644 [A/G] NM_001080512 BICC1 EXON Missense_R973H exm826330 10 60936627 [A/G] NM_032439 PHYHIPL EXON Missense_R5H exm826332 10 60936669 [A/C] NM_032439 PHYHIPL EXON Missense_E19A exm826347 10 61004817 [A/C] NM_032439,NM_001143774 PHYHIPL,PHYHIPL EXON Synonymous_R199R,Synonymous_R173R exm826359 10 61005244 [C/G] NM_032439,NM_001143774 PHYHIPL,PHYHIPL EXON Missense_V342L,Missense_V316L exm826366 10 61007460 [T/C] NM_032439,NM_001143774,NM_198215,NM_001143773,NM_001166698,NM_001001971 PHYHIPL,PHYHIPL,FAM13C,FAM13C,FAM13C,FAM13C EXON Silent,Silent,Missense_E558K,Missense_E475K,Missense_E474K,Missense_E460K exm826369 10 61007534 [A/G] NM_032439,NM_001143774,NM_198215,NM_001143773,NM_001166698,NM_001001971 PHYHIPL,PHYHIPL,FAM13C,FAM13C,FAM13C,FAM13C EXON Silent,Silent,Silent,Silent,Silent,Silent exm826372 10 61011383 [T/C] NM_198215,NM_001143773,NM_001166698,NM_001001971 FAM13C,FAM13C,FAM13C,FAM13C EXON Missense_R529Q,Missense_R446Q,Missense_R445Q,Missense_R431Q exm826375 10 61012596 [A/G] NM_198215,NM_001143773,NM_001166698,NM_001001971 FAM13C,FAM13C,FAM13C,FAM13C EXON Missense_P499S,Missense_P416S,Missense_P415S,Missense_P401S exm1682062 10 61012605 [T/C] NM_198215,NM_001143773,NM_001166698,NM_001001971 FAM13C,FAM13C,FAM13C,FAM13C EXON Missense_V496I,Missense_V413I,Missense_V412I,Missense_V398I exm826377 10 61012638 [C/G] NM_198215,NM_001143773,NM_001166698,NM_001001971 FAM13C,FAM13C,FAM13C,FAM13C EXON Missense_V485L,Missense_V402L,Missense_V401L,Missense_V387L exm826383 10 61014112 [A/G] NM_198215,NM_001143773,NM_001166698,NM_001001971 FAM13C,FAM13C,FAM13C,FAM13C EXON Missense_T443I,Missense_T360I,Missense_T360I,Missense_T345I exm826389 10 61022223 [G/C] NM_198215,NM_001143773,NM_001166698,NM_001001971 FAM13C,FAM13C,FAM13C,FAM13C EXON Missense_E403Q,Missense_E320Q,Missense_E320Q,Silent exm826391 10 61022253 [T/C] NM_198215,NM_001143773,NM_001166698,NM_001001971 FAM13C,FAM13C,FAM13C,FAM13C EXON Missense_A393T,Missense_A310T,Missense_A310T,Silent exm826396 10 61022303 [A/G] NM_198215,NM_001143773,NM_001166698,NM_001001971 FAM13C,FAM13C,FAM13C,FAM13C EXON Missense_P376L,Missense_P293L,Missense_P293L,Silent exm826400 10 61023860 [A/G] NM_198215,NM_001143773,NM_001166698,NM_001001971 FAM13C,FAM13C,FAM13C,FAM13C EXON Missense_R337C,Missense_R254C,Missense_R254C,Silent exm826406 10 61028371 [T/C] NM_198215,NM_001143773,NM_001166698,NM_001001971 FAM13C,FAM13C,FAM13C,FAM13C EXON Missense_S295N,Missense_S212N,Missense_S212N,Missense_S295N exm826409 10 61028447 [A/G] NM_198215,NM_001143773,NM_001166698,NM_001001971 FAM13C,FAM13C,FAM13C,FAM13C EXON Missense_R270W,Missense_R187W,Missense_R187W,Missense_R270W exm826411 10 61028449 [A/G] NM_198215,NM_001143773,NM_001166698,NM_001001971 FAM13C,FAM13C,FAM13C,FAM13C EXON Missense_P269L,Missense_P186L,Missense_P186L,Missense_P269L exm1682067 10 61029657 [A/C] NM_198215,NM_001143773,NM_001166698,NM_001001971 FAM13C,FAM13C,FAM13C,FAM13C Silent,Silent,Silent,Silent exm826417 10 61029777 [T/G] NM_198215,NM_001143773,NM_001166698,NM_001001971 FAM13C,FAM13C,FAM13C,FAM13C EXON Missense_I229L,Missense_I146L,Missense_I146L,Missense_I229L exm826442 10 61083752 [A/G] NM_198215,NM_001143773,NM_001166698,NM_001001971 FAM13C,FAM13C,FAM13C,FAM13C EXON Missense_P147S,Missense_P64S,Missense_P64S,Missense_P147S exm826448 10 61112064 [T/C] NM_198215,NM_001143773,NM_001166698,NM_001001971 FAM13C,FAM13C,FAM13C,FAM13C EXON Missense_K97R,Missense_K14R,Missense_K14R,Missense_K97R exm826451 10 61112161 [A/G] NM_198215,NM_001143773,NM_001166698,NM_001001971 FAM13C,FAM13C,FAM13C,FAM13C EXON Missense_P65S,Silent,Silent,Missense_P65S exm826452 10 61112178 [A/G] NM_198215,NM_001143773,NM_001166698,NM_001001971 FAM13C,FAM13C,FAM13C,FAM13C EXON Missense_A59V,Silent,Silent,Missense_A59V exm826458 10 61115676 [A/C] NM_198215,NM_001143773,NM_001166698,NM_001001971 FAM13C,FAM13C,FAM13C,FAM13C EXON Missense_H30Q,Silent,Silent,Missense_H30Q exm2249296 10 61198691 [T/C] exm826467 10 61412559 [A/C] NM_194298 SLC16A9 EXON Missense_F501V exm826468 10 61412570 [C/G] NM_194298 SLC16A9 EXON Missense_A497G exm826469 10 61412649 [T/C] NM_194298 SLC16A9 EXON Missense_V471I exm826489 10 61414011 [T/G] NM_194298 SLC16A9 EXON Missense_T258K exm826493 10 61414176 [A/G] NM_194298 SLC16A9 EXON Missense_A203V exm826510 10 61443890 [T/C] NM_194298 SLC16A9 EXON Missense_V54I exm2273463 10 61552502 [T/C] NM_005436 CCDC6 EXON Silent exm826529 10 61552692 [T/G] NM_005436 CCDC6 EXON Missense_P470T exm826531 10 61552709 [A/G] NM_005436 CCDC6 EXON Missense_S464L exm826555 10 61566800 [T/C] NM_005436 CCDC6 EXON Missense_R295H exm826556 10 61572524 [A/G] NM_005436 CCDC6 EXON Missense_V239A exm2259613 10 61790383 [A/G] NM_001149,NM_020987,NM_001204403,NM_001204404 ANK3,ANK3,ANK3,ANK3 Silent,Silent,Silent,Silent exm-rs7911953 10 61791039 [T/G] NM_001149,NM_020987,NM_001204403,NM_001204404 ANK3,ANK3,ANK3,ANK3 Silent,Silent,Silent,Silent exm826586 10 61802453 [A/G] NM_001149,NM_020987,NM_001204403,NM_001204404 ANK3,ANK3,ANK3,ANK3 EXON Missense_S1001L,Missense_S4377L,Missense_S1861L,Missense_S1868L exm826587 10 61802474 [A/T] NM_001149,NM_020987,NM_001204403,NM_001204404 ANK3,ANK3,ANK3,ANK3 EXON Missense_H994L,Missense_H4370L,Missense_H1854L,Missense_H1861L exm826588 10 61802477 [T/C] NM_001149,NM_020987,NM_001204403,NM_001204404 ANK3,ANK3,ANK3,ANK3 EXON Missense_R993Q,Missense_R4369Q,Missense_R1853Q,Missense_R1860Q exm826597 10 61815455 [T/G] NM_001149,NM_020987,NM_001204403,NM_001204404 ANK3,ANK3,ANK3,ANK3 EXON Missense_S966R,Missense_S4342R,Missense_S1826R,Missense_S1833R exm826604 10 61815712 [T/C] NM_001149,NM_020987,NM_001204403,NM_001204404 ANK3,ANK3,ANK3,ANK3 EXON Missense_I881V,Missense_I4257V,Missense_I1741V,Missense_I1748V exm826610 10 61819543 [A/C] NM_001149,NM_020987,NM_001204403,NM_001204404 ANK3,ANK3,ANK3,ANK3 EXON Missense_D794Y,Silent,Missense_D1654Y,Missense_D1661Y exm826614 10 61819599 [A/G] NM_001149,NM_020987,NM_001204403,NM_001204404 ANK3,ANK3,ANK3,ANK3 EXON Missense_I775T,Silent,Missense_I1635T,Missense_I1642T exm1682175 10 61819668 [C/G] NM_001149,NM_020987,NM_001204403,NM_001204404 ANK3,ANK3,ANK3,ANK3 EXON Missense_S752C,Silent,Missense_S1612C,Missense_S1619C exm826616 10 61819714 [T/A] NM_001149,NM_020987,NM_001204403,NM_001204404 ANK3,ANK3,ANK3,ANK3 EXON Missense_T737S,Silent,Missense_T1597S,Missense_T1604S exm826637 10 61828662 [A/G] NM_001149,NM_020987,NM_001204403,NM_001204404 ANK3,ANK3,ANK3,ANK3 EXON Silent,Missense_C3993R,Silent,Silent exm826645 10 61828814 [T/C] NM_001149,NM_020987,NM_001204403,NM_001204404 ANK3,ANK3,ANK3,ANK3 EXON Silent,Missense_K3942R,Silent,Silent exm826650 10 61828961 [G/C] NM_001149,NM_020987,NM_001204403,NM_001204404 ANK3,ANK3,ANK3,ANK3 EXON Silent,Missense_S3893T,Silent,Silent exm826652 10 61828998 [T/C] NM_001149,NM_020987,NM_001204403,NM_001204404 ANK3,ANK3,ANK3,ANK3 EXON Silent,Missense_M3881V,Silent,Silent exm2274409 10 61829142 [T/C] NM_001149,NM_020987,NM_001204403,NM_001204404 ANK3,ANK3,ANK3,ANK3 EXON Silent,Missense_G3833R,Silent,Silent exm826665 10 61829273 [T/C] NM_001149,NM_020987,NM_001204403,NM_001204404 ANK3,ANK3,ANK3,ANK3 EXON Silent,Missense_N3789S,Silent,Silent exm826678 10 61829549 [G/C] NM_001149,NM_020987,NM_001204403,NM_001204404 ANK3,ANK3,ANK3,ANK3 EXON Silent,Missense_S3697C,Silent,Silent exm826689 10 61829951 [T/C] NM_001149,NM_020987,NM_001204403,NM_001204404 ANK3,ANK3,ANK3,ANK3 EXON Silent,Missense_E3563G,Silent,Silent exm826700 10 61830584 [T/C] NM_001149,NM_020987,NM_001204403,NM_001204404 ANK3,ANK3,ANK3,ANK3 EXON Silent,Missense_E3352G,Silent,Silent exm826703 10 61830612 [C/G] NM_001149,NM_020987,NM_001204403,NM_001204404 ANK3,ANK3,ANK3,ANK3 EXON Silent,Missense_Q3343E,Silent,Silent exm826708 10 61830704 [A/G] NM_001149,NM_020987,NM_001204403,NM_001204404 ANK3,ANK3,ANK3,ANK3 EXON Silent,Missense_A3312V,Silent,Silent exm826720 10 61831271 [T/C] NM_001149,NM_020987,NM_001204403,NM_001204404 ANK3,ANK3,ANK3,ANK3 EXON Silent,Missense_K3123R,Silent,Silent exm826729 10 61831502 [G/C] NM_001149,NM_020987,NM_001204403,NM_001204404 ANK3,ANK3,ANK3,ANK3 EXON Silent,Missense_T3046S,Silent,Silent exm826737 10 61831651 [C/G] NM_001149,NM_020987,NM_001204403,NM_001204404 ANK3,ANK3,ANK3,ANK3 EXON Silent,Missense_Q2996H,Silent,Silent exm826752 10 61831908 [T/C] NM_001149,NM_020987,NM_001204403,NM_001204404 ANK3,ANK3,ANK3,ANK3 EXON Silent,Missense_G2911S,Silent,Silent exm826756 10 61831984 [T/G] NM_001149,NM_020987,NM_001204403,NM_001204404 ANK3,ANK3,ANK3,ANK3 EXON Silent,Missense_H2885Q,Silent,Silent exm826764 10 61832105 [T/C] NM_001149,NM_020987,NM_001204403,NM_001204404 ANK3,ANK3,ANK3,ANK3 EXON Silent,Missense_G2845E,Silent,Silent exm826772 10 61832316 [C/G] NM_001149,NM_020987,NM_001204403,NM_001204404 ANK3,ANK3,ANK3,ANK3 EXON Silent,Missense_D2775H,Silent,Silent exm2249298 10 61832527 [A/G] NM_001149,NM_020987,NM_001204403,NM_001204404 ANK3,ANK3,ANK3,ANK3 EXON Silent,Synonymous_P2704P,Silent,Silent exm826783 10 61832711 [T/C] NM_001149,NM_020987,NM_001204403,NM_001204404 ANK3,ANK3,ANK3,ANK3 EXON Silent,Missense_N2643S,Silent,Silent exm826786 10 61832798 [T/C] NM_001149,NM_020987,NM_001204403,NM_001204404 ANK3,ANK3,ANK3,ANK3 EXON Silent,Missense_R2614H,Silent,Silent exm2249299 10 61832866 [T/C] NM_001149,NM_020987,NM_001204403,NM_001204404 ANK3,ANK3,ANK3,ANK3 EXON Silent,Synonymous_V2591V,Silent,Silent exm826792 10 61832903 [T/C] NM_001149,NM_020987,NM_001204403,NM_001204404 ANK3,ANK3,ANK3,ANK3 EXON Silent,Missense_R2579K,Silent,Silent exm826793 10 61832924 [A/G] NM_001149,NM_020987,NM_001204403,NM_001204404 ANK3,ANK3,ANK3,ANK3 EXON Silent,Missense_I2572T,Silent,Silent exm826799 10 61833170 [A/G] NM_001149,NM_020987,NM_001204403,NM_001204404 ANK3,ANK3,ANK3,ANK3 EXON Silent,Missense_P2490L,Silent,Silent exm826808 10 61833414 [A/G] NM_001149,NM_020987,NM_001204403,NM_001204404 ANK3,ANK3,ANK3,ANK3 EXON Silent,Missense_S2409P,Silent,Silent exm826816 10 61833657 [A/G] NM_001149,NM_020987,NM_001204403,NM_001204404 ANK3,ANK3,ANK3,ANK3 EXON Silent,Missense_R2328C,Silent,Silent exm826817 10 61833684 [T/C] NM_001149,NM_020987,NM_001204403,NM_001204404 ANK3,ANK3,ANK3,ANK3 EXON Silent,Missense_D2319N,Silent,Silent exm826820 10 61833723 [T/C] NM_001149,NM_020987,NM_001204403,NM_001204404 ANK3,ANK3,ANK3,ANK3 EXON Silent,Missense_K2306E,Silent,Silent exm826832 10 61834068 [C/G] NM_001149,NM_020987,NM_001204403,NM_001204404 ANK3,ANK3,ANK3,ANK3 EXON Silent,Missense_P2191A,Silent,Silent exm826833 10 61834084 [A/C] NM_001149,NM_020987,NM_001204403,NM_001204404 ANK3,ANK3,ANK3,ANK3 EXON Silent,Missense_Q2185H,Silent,Silent exm826840 10 61834166 [A/G] NM_001149,NM_020987,NM_001204403,NM_001204404 ANK3,ANK3,ANK3,ANK3 EXON Silent,Missense_I2158T,Silent,Silent exm826846 10 61834511 [T/C] NM_001149,NM_020987,NM_001204403,NM_001204404 ANK3,ANK3,ANK3,ANK3 EXON Silent,Missense_S2043N,Silent,Silent exm826848 10 61834572 [T/C] NM_001149,NM_020987,NM_001204403,NM_001204404 ANK3,ANK3,ANK3,ANK3 EXON Silent,Missense_A2023T,Silent,Silent exm826852 10 61834622 [A/G] NM_001149,NM_020987,NM_001204403,NM_001204404 ANK3,ANK3,ANK3,ANK3 EXON Silent,Missense_A2006V,Silent,Silent exm826853 10 61834628 [A/G] NM_001149,NM_020987,NM_001204403,NM_001204404 ANK3,ANK3,ANK3,ANK3 EXON Silent,Missense_A2004V,Silent,Silent exm826859 10 61834719 [G/C] NM_001149,NM_020987,NM_001204403,NM_001204404 ANK3,ANK3,ANK3,ANK3 EXON Silent,Missense_P1974A,Silent,Silent exm826871 10 61835057 [A/G] NM_001149,NM_020987,NM_001204403,NM_001204404 ANK3,ANK3,ANK3,ANK3 EXON Silent,Missense_T1861M,Silent,Silent exm826889 10 61835633 [A/G] NM_001149,NM_020987,NM_001204403,NM_001204404 ANK3,ANK3,ANK3,ANK3 EXON Silent,Missense_P1669L,Silent,Silent exm826891 10 61835706 [T/C] NM_001149,NM_020987,NM_001204403,NM_001204404 ANK3,ANK3,ANK3,ANK3 EXON Silent,Missense_A1645T,Silent,Silent exm826892 10 61835750 [A/G] NM_001149,NM_020987,NM_001204403,NM_001204404 ANK3,ANK3,ANK3,ANK3 EXON Silent,Missense_A1630V,Silent,Silent exm826896 10 61835813 [A/G] NM_001149,NM_020987,NM_001204403,NM_001204404 ANK3,ANK3,ANK3,ANK3 EXON Silent,Missense_T1609M,Silent,Silent exm2217324 10 61835910 [T/C] NM_001149,NM_020987,NM_001204403,NM_001204404 ANK3,ANK3,ANK3,ANK3 EXON Silent,Missense_M1577V,Silent,Silent exm826913 10 61836054 [A/G] NM_001149,NM_020987,NM_001204403,NM_001204404 ANK3,ANK3,ANK3,ANK3 EXON Silent,Missense_S1529P,Silent,Silent exm826923 10 61840303 [A/G] NM_001149,NM_020987,NM_001204403,NM_001204404 ANK3,ANK3,ANK3,ANK3 EXON Missense_P600L,Missense_P1475L,Missense_P1460L,Missense_P1467L exm1682229 10 61840324 [T/C] NM_001149,NM_020987,NM_001204403,NM_001204404 ANK3,ANK3,ANK3,ANK3 EXON Missense_R593H,Missense_R1468H,Missense_R1453H,Missense_R1460H exm826925 10 61840327 [T/C] NM_001149,NM_020987,NM_001204403,NM_001204404 ANK3,ANK3,ANK3,ANK3 EXON Missense_K592R,Missense_K1467R,Missense_K1452R,Missense_K1459R exm826986 10 61894030 [T/G] NM_001149,NM_020987,NM_001204403,NM_001204404 ANK3,ANK3,ANK3,ANK3 EXON Missense_Q81P,Missense_Q947P,Missense_Q941P,Missense_Q948P exm826994 10 61905727 [T/C] NM_020987,NM_001204403,NM_001204404 ANK3,ANK3,ANK3 EXON Silent,Silent,Synonymous_K872K exm827002 10 61926617 [A/G] NM_020987,NM_001204403,NM_001204404 ANK3,ANK3,ANK3 EXON Missense_T839M,Missense_T833M,Missense_T822M exm827003 10 61926653 [T/G] NM_020987,NM_001204403,NM_001204404 ANK3,ANK3,ANK3 EXON Missense_T827N,Missense_T821N,Missense_T810N exm827019 10 61941088 [T/A] NM_020987,NM_001204403,NM_001204404 ANK3,ANK3,ANK3 EXON Missense_K728M,Missense_K722M,Missense_K711M exm827020 10 61941098 [T/C] NM_020987,NM_001204403,NM_001204404 ANK3,ANK3,ANK3 EXON Missense_A725T,Missense_A719T,Missense_A708T exm827022 10 61941110 [A/C] NM_020987,NM_001204403,NM_001204404 ANK3,ANK3,ANK3 EXON Missense_A721S,Missense_A715S,Missense_A704S exm827054 10 61958109 [T/C] NM_020987,NM_001204403,NM_001204404 ANK3,ANK3,ANK3 EXON Missense_I560V,Missense_I554V,Missense_I543V exm827071 10 61965576 [T/C] NM_020987,NM_001204403,NM_001204404 ANK3,ANK3,ANK3 EXON Missense_G423S,Missense_G417S,Missense_G406S exm827077 10 61967879 [A/G] NM_020987,NM_001204403,NM_001204404 ANK3,ANK3,ANK3 EXON Missense_A370V,Missense_A364V,Missense_A353V exm2271302 10 62034355 [T/C] NM_020987,NM_001204403,NM_001204404 ANK3,ANK3,ANK3 Silent,Silent,Silent exm827108 10 62038564 [T/C] NM_020987,NM_001204403,NM_001204404 ANK3,ANK3,ANK3 EXON Missense_T128A,Missense_T122A,Missense_T111A exm-rs10761482 10 62085337 [T/C] NM_020987,NM_001204403,NM_001204404 ANK3,ANK3,ANK3 Silent,Silent,Silent exm-rs10994336 10 62179812 [T/C] NM_001204403,NM_001204404 ANK3,ANK3 Silent,Silent exm-rs10994338 10 62181128 [A/G] NM_001204403,NM_001204404 ANK3,ANK3 Silent,Silent exm827128 10 62544600 [T/C] NM_001170406,NM_001170407,NM_033379,NM_001786 CDK1,CDK1,CDK1,CDK1 EXON Missense_R59C,Missense_R59C,Missense_R59C,Missense_R59C exm2249301 10 62545142 [A/G] NM_001170406,NM_001170407,NM_033379,NM_001786 CDK1,CDK1,CDK1,CDK1 Silent,Silent,Silent,Silent exm827157 10 62631337 [T/C] NR_024554,NM_001242359,NR_024555,NM_014836 RHOBTB1,RHOBTB1,RHOBTB1,RHOBTB1 EXON Silent,Missense_R665H,Silent,Missense_R665H exm827166 10 62632024 [A/C] NR_024554,NM_001242359,NR_024555,NM_014836 RHOBTB1,RHOBTB1,RHOBTB1,RHOBTB1 EXON Silent,Missense_A614S,Silent,Missense_A614S exm827182 10 62645902 [T/C] NR_024554,NM_001242359,NR_024555,NM_014836 RHOBTB1,RHOBTB1,RHOBTB1,RHOBTB1 EXON Silent,Missense_G515R,Silent,Missense_G515R exm827187 10 62645987 [A/G] NR_024554,NM_001242359,NR_024555,NM_014836 RHOBTB1,RHOBTB1,RHOBTB1,RHOBTB1 EXON Silent,Synonymous_D486D,Silent,Synonymous_D486D exm827188 10 62647971 [G/C] NR_024554,NM_001242359,NR_024555,NM_014836 RHOBTB1,RHOBTB1,RHOBTB1,RHOBTB1 EXON Silent,Synonymous_S485S,Silent,Synonymous_S485S exm827197 10 62648192 [A/G] NR_024554,NM_001242359,NR_024555,NM_014836 RHOBTB1,RHOBTB1,RHOBTB1,RHOBTB1 EXON Silent,Missense_R412W,Silent,Missense_R412W exm2274410 10 62648240 [A/G] NR_024554,NM_001242359,NR_024555,NM_014836 RHOBTB1,RHOBTB1,RHOBTB1,RHOBTB1 EXON Silent,Missense_P396S,Silent,Missense_P396S exm2249302 10 62648367 [T/C] NR_024554,NM_001242359,NR_024555,NM_014836 RHOBTB1,RHOBTB1,RHOBTB1,RHOBTB1 EXON Silent,Synonymous_L353L,Silent,Synonymous_L353L exm827202 10 62648371 [T/C] NR_024554,NM_001242359,NR_024555,NM_014836 RHOBTB1,RHOBTB1,RHOBTB1,RHOBTB1 EXON Silent,Missense_S352N,Silent,Missense_S352N exm827203 10 62648392 [T/C] NR_024554,NM_001242359,NR_024555,NM_014836 RHOBTB1,RHOBTB1,RHOBTB1,RHOBTB1 EXON Silent,Missense_Q345R,Silent,Missense_Q345R exm827205 10 62648416 [A/G] NR_024554,NM_001242359,NR_024555,NM_014836 RHOBTB1,RHOBTB1,RHOBTB1,RHOBTB1 EXON Silent,Missense_P337L,Silent,Missense_P337L exm827220 10 62648684 [A/C] NR_024554,NM_001242359,NR_024555,NM_014836 RHOBTB1,RHOBTB1,RHOBTB1,RHOBTB1 EXON Silent,Missense_C248G,Silent,Missense_C248G exm827227 10 62648881 [A/C] NR_024554,NM_001242359,NR_024555,NM_014836 RHOBTB1,RHOBTB1,RHOBTB1,RHOBTB1 EXON Silent,Missense_G182V,Silent,Missense_G182V exm827230 10 62652608 [T/C] NR_024554,NM_001242359,NR_024555,NM_014836 RHOBTB1,RHOBTB1,RHOBTB1,RHOBTB1 EXON Silent,Missense_D148N,Silent,Missense_D148N exm827233 10 62652643 [A/G] NR_024554,NM_001242359,NR_024555,NM_014836 RHOBTB1,RHOBTB1,RHOBTB1,RHOBTB1 EXON Silent,Missense_I136T,Silent,Missense_I136T exm827234 10 62652647 [T/C] NR_024554,NM_001242359,NR_024555,NM_014836 RHOBTB1,RHOBTB1,RHOBTB1,RHOBTB1 EXON Silent,Missense_V135I,Silent,Missense_V135I exm2264388 10 63053788 [A/C] exm827277 10 63173236 [A/C] NM_178505 TMEM26 EXON Missense_Q221H exm827284 10 63188795 [A/G] NM_178505 TMEM26 EXON Missense_I165T exm827289 10 63190977 [T/C] NM_178505 TMEM26 EXON Synonymous_T128T exm827290 10 63190978 [A/G] NM_178505 TMEM26 EXON Missense_T128M exm827295 10 63195951 [A/G] NM_178505 TMEM26 EXON Missense_L83F exm827296 10 63195969 [T/C] NM_178505 TMEM26 EXON Missense_V77I exm827319 10 63445868 [T/A] NM_173554 C10orf107 EXON Missense_H47L exm827326 10 63450321 [A/G] NM_173554 C10orf107 EXON Missense_Y77C exm827328 10 63450379 [A/G] NM_173554 C10orf107 EXON Synonymous_E96E exm827330 10 63519817 [A/C] NM_173554 C10orf107 EXON Missense_Q97K exm827332 10 63519851 [T/C] NM_173554 C10orf107 EXON Missense_P108L exm827338 10 63519929 [T/C] NM_173554 C10orf107 EXON Missense_T134M exm827340 10 63519935 [T/C] NM_173554 C10orf107 EXON Missense_M136T exm827345 10 63520753 [A/G] NM_173554 C10orf107 EXON Missense_G182S exm-rs1530440 10 63524591 [T/C] NM_173554 C10orf107 Silent exm2217332 10 63525749 [T/C] NM_173554 C10orf107 EXON Missense_I202T exm2271303 10 63588911 [T/C] exm827370 10 63700087 [A/C] NM_032199 ARID5B EXON Missense_E141A exm-rs10821936 10 63723577 [T/C] NM_032199 ARID5B Silent exm-rs7089424 10 63752159 [T/G] NM_032199 ARID5B Silent exm827375 10 63759854 [C/G] NM_032199 ARID5B EXON Missense_E169D exm827385 10 63810685 [T/G] NM_032199,NM_001244638 ARID5B,ARID5B EXON Missense_C258G,Missense_C15G exm2274411 10 63810739 [A/G] NM_032199,NM_001244638 ARID5B,ARID5B EXON Missense_D276N,Missense_D33N exm2267104 10 63814914 [A/G] NM_032199,NM_001244638 ARID5B,ARID5B Silent,Silent exm827401 10 63845583 [A/C] NM_032199,NM_001244638 ARID5B,ARID5B EXON Missense_T441N,Missense_T198N exm827402 10 63845591 [A/G] NM_032199,NM_001244638 ARID5B,ARID5B EXON Missense_I444V,Missense_I201V exm1682487 10 63845597 [T/C] NM_032199,NM_001244638 ARID5B,ARID5B EXON Missense_H446Y,Missense_H203Y exm-rs7913907 10 63849790 [A/G] NM_032199,NM_001244638 ARID5B,ARID5B Silent,Silent exm827405 10 63850661 [A/G] NM_032199,NM_001244638 ARID5B,ARID5B EXON Missense_S480N,Missense_S237N exm827415 10 63850847 [T/C] NM_032199,NM_001244638 ARID5B,ARID5B EXON Missense_L542P,Missense_L299P exm827416 10 63850925 [C/G] NM_032199,NM_001244638 ARID5B,ARID5B EXON Missense_S568T,Missense_S325T exm827418 10 63850955 [T/A] NM_032199,NM_001244638 ARID5B,ARID5B EXON Missense_K578I,Missense_K335I exm827420 10 63851054 [T/C] NM_032199,NM_001244638 ARID5B,ARID5B EXON Missense_T611M,Missense_T368M exm827423 10 63851074 [A/G] NM_032199,NM_001244638 ARID5B,ARID5B EXON Missense_A618T,Missense_A375T exm827438 10 63851365 [G/C] NM_032199,NM_001244638 ARID5B,ARID5B EXON Missense_P715A,Missense_P472A exm827439 10 63851400 [A/T] NM_032199,NM_001244638 ARID5B,ARID5B EXON Missense_D726E,Missense_D483E exm827441 10 63851453 [T/C] NM_032199,NM_001244638 ARID5B,ARID5B EXON Missense_M744T,Missense_M501T exm827454 10 63851624 [T/C] NM_032199,NM_001244638 ARID5B,ARID5B EXON Missense_V801A,Missense_V558A exm1682501 10 63851683 [A/C] NM_032199,NM_001244638 ARID5B,ARID5B EXON Missense_H821N,Missense_H578N exm827491 10 63957780 [T/C] NM_145307 RTKN2 EXON Missense_G573S exm827492 10 63957819 [A/G] NM_145307 RTKN2 EXON Nonsense_R560X exm827500 10 63958112 [T/C] NM_145307 RTKN2 EXON Missense_H462R exm827506 10 63959584 [A/G] NM_145307 RTKN2 EXON Missense_I408T exm2267000 10 63962026 [A/G] NM_145307 RTKN2 Silent exm827516 10 63964768 [T/C] NM_145307 RTKN2 EXON Missense_R345Q exm827519 10 63976914 [A/G] NM_145307 RTKN2 EXON Missense_A328V exm827524 10 63976970 [A/C] NM_145307 RTKN2 EXON Nonsense_Y309X exm2249308 10 63976985 [A/G] NM_145307 RTKN2 EXON Synonymous_S304S exm827533 10 63977980 [T/C] NM_145307 RTKN2 EXON Missense_A288T exm827538 10 63983020 [T/C] NM_145307 RTKN2 EXON Missense_H253R exm827539 10 63983047 [T/C] NM_145307 RTKN2 EXON Missense_E244G exm827542 10 63995826 [A/G] NM_145307 RTKN2 EXON Missense_F229L exm827557 10 63999438 [T/C] NM_145307 RTKN2 EXON Missense_T153A exm2217334 10 64005772 [T/G] NM_145307 RTKN2 EXON Missense_K101T exm827570 10 64022478 [T/C] NM_145307 RTKN2 EXON Missense_V55I exm827572 10 64022517 [A/G] NM_145307 RTKN2 EXON Missense_L42F exm827573 10 64022538 [A/G] NM_145307 RTKN2 EXON Nonsense_R35X exm827580 10 64136038 [T/C] NM_199450,NM_199451,NM_014951 ZNF365,ZNF365,ZNF365 EXON Missense_P29L,Missense_P29L,Missense_P29L exm827581 10 64136072 [C/G] NM_199450,NM_199451,NM_014951 ZNF365,ZNF365,ZNF365 EXON Missense_L40F,Missense_L40F,Missense_L40F exm827595 10 64136395 [T/C] NM_199450,NM_199451,NM_014951 ZNF365,ZNF365,ZNF365 EXON Missense_L148P,Missense_L148P,Missense_L148P exm827597 10 64136519 [T/G] NM_199450,NM_199451,NM_014951 ZNF365,ZNF365,ZNF365 EXON Missense_Q189H,Missense_Q189H,Missense_Q189H exm827610 10 64148315 [T/C] NM_199450,NM_199451,NM_014951 ZNF365,ZNF365,ZNF365 EXON Missense_R302C,Missense_R302C,Missense_R302C exm827620 10 64159333 [T/G] NM_199450,NM_199451,NM_014951 ZNF365,ZNF365,ZNF365 EXON Silent,Silent,Missense_A337S exm-rs10995190 10 64278682 [A/G] NM_199451 ZNF365 Silent exm827656 10 64414634 [A/C] NM_199451,NM_199452 ZNF365,ZNF365 EXON Silent,Missense_K24Q exm827657 10 64414641 [T/C] NM_199451,NM_199452 ZNF365,ZNF365 EXON Silent,Missense_P26L exm827660 10 64414661 [A/C] NM_199451,NM_199452 ZNF365,ZNF365 EXON Silent,Missense_L33I exm827661 10 64414690 [T/G] NM_199451,NM_199452 ZNF365,ZNF365 EXON Silent,Missense_K42N exm827664 10 64415184 [A/G] NM_199451,NM_199452 ZNF365,ZNF365 EXON Silent,Missense_T62A exm827666 10 64415229 [T/C] NM_199451,NM_199452 ZNF365,ZNF365 EXON Silent,Missense_R77C exm827668 10 64415302 [A/G] NM_199451,NM_199452 ZNF365,ZNF365 EXON Silent,Missense_R101H exm827671 10 64415332 [T/C] NM_199451,NM_199452 ZNF365,ZNF365 EXON Silent,Missense_S111L exm2249310 10 64416220 [T/C] NM_199451,NM_199452 ZNF365,ZNF365 EXON Synonymous_D398D,Synonymous_D152D exm827687 10 64425913 [A/C] NM_199451,NM_199452 ZNF365,ZNF365 EXON Missense_S415R,Missense_S169R exm827690 10 64425927 [T/G] NM_199451,NM_199452 ZNF365,ZNF365 EXON Missense_L420R,Missense_L174R exm827692 10 64429997 [A/G] NM_199451,NM_199452 ZNF365,ZNF365 EXON Missense_E442G,Missense_E196G exm1682573 10 64430028 [A/G] NM_199451,NM_199452 ZNF365,ZNF365 EXON Missense_I452M,Missense_I206M exm827694 10 64430036 [T/C] NM_199451,NM_199452 ZNF365,ZNF365 EXON Missense_P455L,Missense_P209L exm-rs10995271 10 64438486 [G/C] exm-rs10761659 10 64445564 [A/G] exm2271406 10 64470675 [T/C] exm2267001 10 64496870 [A/G] exm827696 10 64564892 [T/G] NM_032804 ADO EXON Missense_G25W exm827698 10 64564934 [C/G] NM_032804 ADO EXON Missense_P39A exm827716 10 64565355 [A/C] NM_032804 ADO EXON Missense_A179D exm-rs1509963 10 64570411 [T/C] exm1682580 10 64573046 [A/C] NM_001136178,NM_001136177,NM_000399,NM_001136179 EGR2,EGR2,EGR2,EGR2 EXON Missense_G451V,Missense_G451V,Missense_G451V,Missense_G401V exm827745 10 64573754 [A/G] NM_001136178,NM_001136177,NM_000399,NM_001136179 EGR2,EGR2,EGR2,EGR2 EXON Missense_T215M,Missense_T215M,Missense_T215M,Missense_T165M exm827753 10 64573956 [A/G] NM_001136178,NM_001136177,NM_000399,NM_001136179 EGR2,EGR2,EGR2,EGR2 EXON Missense_P148S,Missense_P148S,Missense_P148S,Missense_P98S exm827758 10 64574206 [G/C] NM_001136178,NM_001136177,NM_000399,NM_001136179 EGR2,EGR2,EGR2,EGR2 EXON Missense_M64I,Missense_M64I,Missense_M64I,Missense_M14I exm2276793 10 64911911 [A/C] NM_030759 NRBF2 EXON Synonymous_A39A exm827800 10 64927823 [G/C] NM_004241,NM_032776 JMJD1C,JMJD1C EXON Missense_E2298D,Missense_E2535D exm827802 10 64927837 [T/C] NM_004241,NM_032776 JMJD1C,JMJD1C EXON Missense_E2294K,Missense_E2531K exm827811 10 64936086 [T/C] NM_004241,NM_032776 JMJD1C,JMJD1C EXON Missense_I2221V,Missense_I2458V exm827816 10 64937501 [C/G] NM_004241,NM_032776 JMJD1C,JMJD1C EXON Missense_D2163E,Missense_D2400E exm2249313 10 64946012 [A/G] NM_004241,NM_032776 JMJD1C,JMJD1C EXON Synonymous_N1997N,Synonymous_N2234N exm827833 10 64949071 [T/C] NM_004241,NM_032776 JMJD1C,JMJD1C EXON Missense_I1906V,Missense_I2143V exm827836 10 64949103 [T/A] NM_004241,NM_032776 JMJD1C,JMJD1C EXON Missense_K1895I,Missense_K2132I exm827844 10 64952835 [A/G] NM_004241,NM_032776 JMJD1C,JMJD1C EXON Missense_P1743L,Missense_P1980L exm827869 10 64966621 [A/G] NM_004241,NM_032776 JMJD1C,JMJD1C EXON Missense_I1384T,Missense_I1603T exm827871 10 64966648 [A/G] NM_004241,NM_032776 JMJD1C,JMJD1C EXON Missense_I1375T,Missense_I1594T exm827879 10 64966862 [T/A] NM_004241,NM_032776 JMJD1C,JMJD1C EXON Missense_I1304F,Missense_I1523F exm827880 10 64966874 [T/C] NM_004241,NM_032776 JMJD1C,JMJD1C EXON Missense_D1300N,Missense_D1519N exm827885 10 64966946 [T/C] NM_004241,NM_032776 JMJD1C,JMJD1C EXON Missense_K1276E,Missense_K1495E exm827892 10 64967056 [A/G] NM_004241,NM_032776 JMJD1C,JMJD1C EXON Missense_L1239S,Missense_L1458S exm827893 10 64967143 [A/G] NM_004241,NM_032776 JMJD1C,JMJD1C EXON Missense_S1210L,Missense_S1429L exm827896 10 64967249 [T/A] NM_004241,NM_032776 JMJD1C,JMJD1C EXON Missense_T1175S,Missense_T1394S exm827900 10 64967360 [A/G] NM_004241,NM_032776 JMJD1C,JMJD1C EXON Missense_P1138S,Missense_P1357S exm827917 10 64967908 [T/C] NM_004241,NM_032776 JMJD1C,JMJD1C EXON Missense_H955R,Missense_H1174R exm827928 10 64968164 [A/G] NM_004241,NM_032776 JMJD1C,JMJD1C EXON Missense_P870S,Missense_P1089S exm827929 10 64968179 [T/C] NM_004241,NM_032776 JMJD1C,JMJD1C EXON Missense_V865M,Missense_V1084M exm1682654 10 64968251 [T/C] NM_004241,NM_032776 JMJD1C,JMJD1C EXON Missense_K841E,Missense_K1060E exm827935 10 64968272 [C/G] NM_004241,NM_032776 JMJD1C,JMJD1C EXON Missense_A834P,Missense_A1053P exm827941 10 64968534 [T/A] NM_004241,NM_032776 JMJD1C,JMJD1C EXON Missense_E746D,Missense_E965D exm827955 10 64973348 [T/C] NM_004241,NM_032776 JMJD1C,JMJD1C EXON Missense_Y641C,Missense_Y860C exm2249314 10 64973389 [T/C] NM_004241,NM_032776 JMJD1C,JMJD1C EXON Synonymous_G627G,Synonymous_G846G exm827976 10 64973978 [A/G] NM_004241,NM_032776 JMJD1C,JMJD1C EXON Missense_T431I,Missense_T650I exm827979 10 64974017 [T/C] NM_004241,NM_032776 JMJD1C,JMJD1C EXON Missense_K418R,Missense_K637R exm827981 10 64974059 [A/G] NM_004241,NM_032776 JMJD1C,JMJD1C EXON Missense_I404T,Missense_I623T exm827984 10 64974123 [G/C] NM_004241,NM_032776 JMJD1C,JMJD1C EXON Missense_P383A,Missense_P602A exm827985 10 64974156 [T/C] NM_004241,NM_032776 JMJD1C,JMJD1C EXON Missense_M372V,Missense_M591V exm827988 10 64974224 [A/T] NM_004241,NM_032776 JMJD1C,JMJD1C EXON Missense_D349V,Missense_D568V exm827990 10 64974245 [G/C] NM_004241,NM_032776 JMJD1C,JMJD1C EXON Missense_S342C,Missense_S561C exm827997 10 64974380 [C/G] NM_004241,NM_032776 JMJD1C,JMJD1C EXON Missense_T297S,Missense_T516S exm827998 10 64974383 [T/C] NM_004241,NM_032776 JMJD1C,JMJD1C EXON Missense_D296G,Missense_D515G exm828004 10 64974536 [A/G] NM_004241,NM_032776 JMJD1C,JMJD1C EXON Missense_S245L,Missense_S464L exm828005 10 64974537 [T/A] NM_004241,NM_032776 JMJD1C,JMJD1C EXON Missense_S245T,Missense_S464T exm828006 10 64974548 [A/G] NM_004241,NM_032776 JMJD1C,JMJD1C EXON Missense_M241T,Missense_M460T exm828015 10 64974761 [A/G] NM_004241,NM_032776 JMJD1C,JMJD1C EXON Missense_I170T,Missense_I389T exm828019 10 64974807 [C/G] NM_004241,NM_032776 JMJD1C,JMJD1C EXON Missense_D155H,Missense_D374H exm828020 10 64974824 [T/C] NM_004241,NM_032776 JMJD1C,JMJD1C EXON Missense_R149Q,Missense_R368Q exm828025 10 64975079 [T/C] NM_004241,NM_032776 JMJD1C,JMJD1C EXON Missense_S101N,Missense_S320N exm828033 10 64975321 [T/C] NM_004241,NM_032776 JMJD1C,JMJD1C EXON Missense_A53T,Missense_A272T exm828035 10 64975342 [A/G] NM_004241,NM_032776 JMJD1C,JMJD1C EXON Missense_R46C,Missense_R265C exm828045 10 64979713 [T/C] NM_004241,NM_032776 JMJD1C,JMJD1C EXON Silent,Missense_R160G exm-rs10761731 10 65027610 [A/T] NM_004241,NM_032776 JMJD1C,JMJD1C Silent,Silent exm-rs12355784 10 65121565 [A/C] NM_032776 JMJD1C Silent exm-rs2393967 10 65133156 [A/C] NM_032776 JMJD1C Silent exm828073 10 65225367 [T/A] NM_032776,NR_027182 JMJD1C,JMJD1C-AS1 EXON Missense_V19D,Silent exm-rs2893923 10 65261184 [T/C] exm-rs10761779 10 65274927 [A/G] exm828080 10 65281331 [T/C] NM_001001330 REEP3 EXON Missense_A9V exm828086 10 65354554 [A/T] NM_001001330 REEP3 EXON Missense_Y41F exm828095 10 65370041 [A/G] NM_001001330 REEP3 EXON Missense_Q171R exm828099 10 65379416 [T/C] NM_001001330 REEP3 EXON Synonymous_G189G exm2267002 10 65517009 [A/G] exm2267003 10 65654554 [A/G] exm2271408 10 65890094 [T/C] exm2267004 10 66371729 [A/G] exm-rs7900909 10 66448472 [T/C] exm2271409 10 66551141 [T/G] exm2271306 10 67199027 [T/C] exm2259622 10 67592521 [A/C] exm828110 10 67680203 [A/G] NM_013266,NM_001127384 CTNNA3,CTNNA3 EXON Missense_L858S,Missense_L858S exm828115 10 67680276 [A/G] NM_013266,NM_001127384 CTNNA3,CTNNA3 EXON Nonsense_R834X,Nonsense_R834X exm1682741 10 67726392 [T/C] NM_013266,NM_001127384 CTNNA3,CTNNA3 EXON Missense_G793E,Missense_G793E exm828126 10 67829067 [T/G] NM_013266,NM_001127384 CTNNA3,CTNNA3 EXON Synonymous_R720R,Synonymous_R720R exm828135 10 67829159 [A/G] NM_013266,NM_001127384 CTNNA3,CTNNA3 EXON Missense_A689V,Missense_A689V exm828143 10 67862956 [A/G] NM_013266,NM_001127384 CTNNA3,CTNNA3 EXON Missense_R646C,Missense_R646C exm828147 10 67862992 [T/C] NM_013266,NM_001127384 CTNNA3,CTNNA3 EXON Missense_E634K,Missense_E634K exm2267005 10 67894481 [A/G] NM_013266,NM_001127384 CTNNA3,CTNNA3 Silent,Silent exm2271410 10 67974590 [T/C] NM_013266,NM_001127384 CTNNA3,CTNNA3 Silent,Silent exm828153 10 68040262 [A/G] NM_013266,NM_001127384 CTNNA3,CTNNA3 EXON Missense_I617T,Missense_I617T exm828158 10 68040325 [T/C] NM_013266,NM_001127384 CTNNA3,CTNNA3 EXON Missense_S596N,Missense_S596N exm2271307 10 68072601 [T/C] NM_013266,NM_001127384 CTNNA3,CTNNA3 Silent,Silent exm-rs16922827 10 68085353 [T/G] NM_013266,NM_001127384 CTNNA3,CTNNA3 Silent,Silent exm-rs10762058 10 68088508 [C/G] NM_013266,NM_001127384 CTNNA3,CTNNA3 Silent,Silent exm828166 10 68138987 [A/G] NM_013266,NM_001127384 CTNNA3,CTNNA3 EXON Missense_T552M,Missense_T552M exm828170 10 68139038 [T/C] NM_013266,NM_001127384 CTNNA3,CTNNA3 EXON Missense_R535H,Missense_R535H exm828171 10 68139039 [A/G] NM_013266,NM_001127384 CTNNA3,CTNNA3 EXON Missense_R535C,Missense_R535C exm828172 10 68139054 [A/C] NM_013266,NM_001127384 CTNNA3,CTNNA3 EXON Missense_A530S,Missense_A530S exm828173 10 68139055 [T/A] NM_013266,NM_001127384 CTNNA3,CTNNA3 EXON Missense_D529E,Missense_D529E exm828184 10 68280453 [T/A] NM_013266,NM_001127384 CTNNA3,CTNNA3 EXON Missense_T485S,Missense_T485S exm828203 10 68526108 [T/G] NM_013266,NM_001127384 CTNNA3,CTNNA3 EXON Missense_L399I,Missense_L399I exm828204 10 68526111 [T/C] NM_013266,NM_001127384 CTNNA3,CTNNA3 EXON Missense_V398I,Missense_V398I exm828207 10 68526170 [T/C] NM_013266,NM_001127384 CTNNA3,CTNNA3 EXON Missense_R378H,Missense_R378H exm828208 10 68526171 [A/G] NM_013266,NM_001127384 CTNNA3,CTNNA3 EXON Missense_R378C,Missense_R378C exm-rs4142041 10 68640951 [A/G] NM_013266,NM_001127384 CTNNA3,CTNNA3 Silent,Silent exm828235 10 68687759 [A/G] NM_013266,NM_001127384,NM_178011 CTNNA3,CTNNA3,LRRTM3 EXON Silent,Silent,Missense_G362D exm828241 10 68687888 [A/G] NM_013266,NM_001127384,NM_178011 CTNNA3,CTNNA3,LRRTM3 EXON Silent,Silent,Missense_G405D exm828246 10 68688019 [A/G] NM_013266,NM_001127384,NM_178011 CTNNA3,CTNNA3,LRRTM3 EXON Silent,Silent,Missense_M449V exm-rs10997469 10 68746285 [T/C] NM_013266,NM_001127384,NM_178011 CTNNA3,CTNNA3,LRRTM3 Silent,Silent,Silent exm2264389 10 68750412 [A/C] NM_013266,NM_001127384,NM_178011 CTNNA3,CTNNA3,LRRTM3 Silent,Silent,Silent exm828252 10 68857397 [T/G] NM_013266,NM_001127384,NM_178011 CTNNA3,CTNNA3,LRRTM3 EXON Silent,Silent,Missense_I530R exm828259 10 68940075 [A/G] NM_013266,NM_001127384 CTNNA3,CTNNA3 EXON Synonymous_N349N,Synonymous_N349N exm828275 10 68979376 [T/C] NM_013266,NM_001127384 CTNNA3,CTNNA3 EXON Missense_D278N,Missense_D278N exm828280 10 68979466 [A/C] NM_013266,NM_001127384 CTNNA3,CTNNA3 EXON Missense_A248S,Missense_A248S exm828291 10 69281701 [T/A] NM_013266,NM_001127384 CTNNA3,CTNNA3 EXON Missense_S160T,Missense_S160T exm828293 10 69299263 [G/C] NM_013266,NM_001127384 CTNNA3,CTNNA3 EXON Missense_A153P,Missense_A153P exm828307 10 69366675 [A/G] NM_013266,NM_001127384 CTNNA3,CTNNA3 EXON Nonsense_Q78X,Nonsense_Q78X exm828313 10 69366752 [A/G] NM_013266,NM_001127384 CTNNA3,CTNNA3 EXON Missense_S52L,Missense_S52L exm828323 10 69565364 [A/G] NM_021800 DNAJC12 EXON Missense_S160F exm828325 10 69565456 [A/C] NM_021800 DNAJC12 EXON Missense_C129W exm828326 10 69565471 [A/C] NM_021800 DNAJC12 EXON Missense_M124I exm1682834 10 69571359 [A/G] NM_021800,NM_201262 DNAJC12,DNAJC12 EXON Missense_R74C,Missense_R74C exm828354 10 69644820 [A/C] NM_012238 SIRT1 EXON Missense_P114Q exm828357 10 69647253 [A/G] NM_012238,NM_001142498 SIRT1,SIRT1 EXON Missense_H170R,Silent exm2264401 10 69664959 [A/C] NM_012238,NM_001142498 SIRT1,SIRT1 Silent,Silent exm828377 10 69666626 [A/G] NM_012238,NM_001142498 SIRT1,SIRT1 EXON Missense_R341H,Missense_R46H exm828396 10 69672479 [A/G] NM_012238,NM_001142498 SIRT1,SIRT1 EXON Missense_E536K,Missense_E241K exm828400 10 69672657 [T/C] NM_012238,NM_001142498 SIRT1,SIRT1 EXON Missense_M595T,Missense_M300T exm828415 10 69676205 [A/G] NM_012238,NM_001142498 SIRT1,SIRT1 EXON Missense_N700S,Missense_N405S exm1682857 10 69676240 [A/G] NM_012238,NM_001142498 SIRT1,SIRT1 EXON Missense_A712T,Missense_A417T exm828417 10 69676297 [A/G] NM_012238,NM_001142498 SIRT1,SIRT1 EXON Missense_I731V,Missense_I436V exm828421 10 69682728 [T/A] NM_015601,NM_022079 HERC4,HERC4 EXON Missense_I1037N,Missense_I1045N exm2249327 10 69682733 [T/C] NM_015601,NM_022079 HERC4,HERC4 EXON Synonymous_K1035K,Synonymous_K1043K exm828423 10 69682741 [A/G] NM_015601,NM_022079 HERC4,HERC4 EXON Missense_R1033C,Missense_R1041C exm828424 10 69682849 [C/G] NM_015601,NM_022079 HERC4,HERC4 EXON Missense_L997V,Missense_L1005V exm828436 10 69692476 [T/C] NM_015601,NM_022079 HERC4,HERC4 EXON Missense_D906N,Missense_D914N exm828472 10 69749996 [G/C] NM_015601,NM_022079 HERC4,HERC4 EXON Missense_N535K,Missense_N535K exm828475 10 69750687 [A/G] NM_015601,NM_022079 HERC4,HERC4 EXON Missense_P473S,Missense_P473S exm828477 10 69750901 [T/C] NM_015601,NM_022079 HERC4,HERC4 EXON Missense_V443I,Missense_V443I exm828481 10 69752076 [T/C] NM_015601,NM_022079 HERC4,HERC4 EXON Missense_C384Y,Missense_C384Y exm2249328 10 69773913 [T/C] NM_015601,NM_022079 HERC4,HERC4 EXON Synonymous_S313S,Synonymous_S313S exm2249329 10 69773940 [T/C] NM_015601,NM_022079 HERC4,HERC4 EXON Synonymous_Q304Q,Synonymous_Q304Q exm2271308 10 69879709 [T/C] NM_001256267,NR_045662,NR_045663,NM_001256268,NM_032578 MYPN,MYPN,MYPN,MYPN,MYPN Silent,Silent,Silent,Silent,Silent exm828515 10 69881254 [A/G] NM_001256267,NR_045662,NR_045663,NM_001256268,NM_032578 MYPN,MYPN,MYPN,MYPN,MYPN EXON Missense_Y20C,Silent,Silent,Silent,Missense_Y20C exm828516 10 69881260 [G/C] NM_001256267,NR_045662,NR_045663,NM_001256268,NM_032578 MYPN,MYPN,MYPN,MYPN,MYPN EXON Missense_A22G,Silent,Silent,Silent,Missense_A22G exm828531 10 69881590 [T/C] NM_001256267,NR_045662,NR_045663,NM_001256268,NM_032578 MYPN,MYPN,MYPN,MYPN,MYPN EXON Missense_P132L,Silent,Silent,Silent,Missense_P132L exm828539 10 69881857 [T/A] NM_001256267,NR_045662,NR_045663,NM_001256268,NM_032578 MYPN,MYPN,MYPN,MYPN,MYPN EXON Missense_D221V,Silent,Silent,Silent,Missense_D221V exm828541 10 69881929 [C/G] NM_001256267,NR_045662,NR_045663,NM_001256268,NM_032578 MYPN,MYPN,MYPN,MYPN,MYPN EXON Missense_A245G,Silent,Silent,Silent,Missense_A245G exm828543 10 69881977 [A/G] NM_001256267,NR_045662,NR_045663,NM_001256268,NM_032578 MYPN,MYPN,MYPN,MYPN,MYPN EXON Missense_Y261C,Silent,Silent,Silent,Missense_Y261C exm828544 10 69881997 [T/C] NM_001256267,NR_045662,NR_045663,NM_001256268,NM_032578 MYPN,MYPN,MYPN,MYPN,MYPN EXON Missense_P268S,Silent,Silent,Silent,Missense_P268S exm828546 10 69882040 [A/G] NM_001256267,NR_045662,NR_045663,NM_001256268,NM_032578 MYPN,MYPN,MYPN,MYPN,MYPN EXON Missense_E282G,Silent,Silent,Silent,Missense_E282G exm828568 10 69905283 [A/G] NM_001256267,NR_045662,NR_045663,NM_001256268,NM_032578 MYPN,MYPN,MYPN,MYPN,MYPN EXON Missense_R377Q,Silent,Silent,Missense_R83Q,Missense_R377Q exm828584 10 69918324 [A/G] NM_001256267,NR_045662,NR_045663,NM_001256268,NM_032578 MYPN,MYPN,MYPN,MYPN,MYPN EXON Missense_E467K,Silent,Silent,Missense_E173K,Missense_E467K exm828603 10 69926236 [T/C] NM_001256267,NR_045662,NR_045663,NM_001256268,NM_032578 MYPN,MYPN,MYPN,MYPN,MYPN EXON Missense_L596F,Silent,Silent,Missense_L302F,Missense_L596F exm828604 10 69926240 [A/G] NM_001256267,NR_045662,NR_045663,NM_001256268,NM_032578 MYPN,MYPN,MYPN,MYPN,MYPN EXON Missense_R597H,Silent,Silent,Missense_R303H,Missense_R597H exm828610 10 69926334 [C/G] NM_001256267,NR_045662,NR_045663,NM_001256268,NM_032578 MYPN,MYPN,MYPN,MYPN,MYPN EXON Missense_F628L,Silent,Silent,Missense_F334L,Missense_F628L exm828612 10 69926350 [A/G] NM_001256267,NR_045662,NR_045663,NM_001256268,NM_032578 MYPN,MYPN,MYPN,MYPN,MYPN EXON Missense_G634R,Silent,Silent,Missense_G340R,Missense_G634R exm828616 10 69933921 [A/G] NM_001256267,NR_045662,NR_045663,NM_001256268,NM_032578 MYPN,MYPN,MYPN,MYPN,MYPN EXON Missense_S691N,Silent,Silent,Missense_S397N,Missense_S691N exm828618 10 69933969 [A/G] NM_001256267,NR_045662,NR_045663,NM_001256268,NM_032578 MYPN,MYPN,MYPN,MYPN,MYPN EXON Missense_S707N,Silent,Silent,Missense_S413N,Missense_S707N exm828625 10 69934077 [T/C] NM_001256267,NR_045662,NR_045663,NM_001256268,NM_032578 MYPN,MYPN,MYPN,MYPN,MYPN EXON Missense_P743L,Silent,Silent,Missense_P449L,Missense_P743L exm828627 10 69934085 [A/G] NM_001256267,NR_045662,NR_045663,NM_001256268,NM_032578 MYPN,MYPN,MYPN,MYPN,MYPN EXON Missense_T746A,Silent,Silent,Missense_T452A,Missense_T746A exm2217350 10 69934112 [C/G] NM_001256267,NR_045662,NR_045663,NM_001256268,NM_032578 MYPN,MYPN,MYPN,MYPN,MYPN EXON Missense_Q755E,Silent,Silent,Missense_Q461E,Missense_Q755E exm828630 10 69934170 [A/C] NM_001256267,NR_045662,NR_045663,NM_001256268,NM_032578 MYPN,MYPN,MYPN,MYPN,MYPN EXON Missense_S774Y,Silent,Silent,Missense_S480Y,Missense_S774Y exm828634 10 69934259 [A/G] NM_001256267,NR_045662,NR_045663,NM_001256268,NM_032578 MYPN,MYPN,MYPN,MYPN,MYPN EXON Missense_G804R,Silent,Silent,Missense_G510R,Missense_G804R exm828635 10 69934296 [T/C] NM_001256267,NR_045662,NR_045663,NM_001256268,NM_032578 MYPN,MYPN,MYPN,MYPN,MYPN EXON Missense_P816L,Silent,Silent,Missense_P522L,Missense_P816L exm828648 10 69948821 [T/C] NM_001256267,NR_045662,NR_045663,NM_001256268,NM_032578 MYPN,MYPN,MYPN,MYPN,MYPN EXON Missense_R955W,Silent,Silent,Missense_R661W,Missense_R955W exm828665 10 69955255 [T/C] NM_001256267,NR_045662,NR_045663,NM_001256268,NM_032578 MYPN,MYPN,MYPN,MYPN,MYPN EXON Missense_R1042C,Silent,Silent,Missense_R748C,Missense_R1042C exm828678 10 69959174 [T/C] NM_001256267,NR_045662,NR_045663,NM_001256268,NM_032578 MYPN,MYPN,MYPN,MYPN,MYPN EXON Missense_P1112L,Silent,Silent,Missense_P818L,Missense_P1112L exm828681 10 69959242 [A/C] NM_001256267,NR_045662,NR_045663,NM_001256268,NM_032578 MYPN,MYPN,MYPN,MYPN,MYPN EXON Missense_P1135T,Silent,Silent,Missense_P841T,Missense_P1135T exm828685 10 69959260 [A/G] NM_001256267,NR_045662,NR_045663,NM_001256268,NM_032578 MYPN,MYPN,MYPN,MYPN,MYPN EXON Missense_A1141T,Silent,Silent,Missense_A847T,Missense_A1141T exm828690 10 69959320 [A/C] NM_001256267,NR_045662,NR_045663,NM_001256268,NM_032578 MYPN,MYPN,MYPN,MYPN,MYPN EXON Missense_L1161I,Silent,Silent,Missense_L867I,Missense_L1161I exm828697 10 69961675 [A/G] NM_001256267,NR_045662,NR_045663,NM_001256268,NM_032578 MYPN,MYPN,MYPN,MYPN,MYPN EXON Missense_V1195M,Silent,Silent,Missense_V901M,Missense_V1195M exm828702 10 69966659 [T/C] NM_001256267,NR_045662,NR_045663,NM_001256268,NM_032578 MYPN,MYPN,MYPN,MYPN,MYPN EXON Synonymous_Y1264Y,Silent,Silent,Synonymous_Y970Y,Synonymous_Y1264Y exm828705 10 69970067 [T/C] NM_001256267,NR_045662,NR_045663,NM_001256268,NM_032578 MYPN,MYPN,MYPN,MYPN,MYPN EXON Missense_P1273L,Silent,Silent,Missense_P979L,Missense_P1273L exm828707 10 69970082 [A/G] NM_001256267,NR_045662,NR_045663,NM_001256268,NM_032578 MYPN,MYPN,MYPN,MYPN,MYPN EXON Missense_R1278Q,Silent,Silent,Missense_R984Q,Missense_R1278Q exm828708 10 69970095 [A/T] NM_001256267,NR_045662,NR_045663,NM_001256268,NM_032578 MYPN,MYPN,MYPN,MYPN,MYPN EXON Missense_S1282R,Silent,Silent,Missense_S988R,Missense_S1282R exm828725 10 69991242 [T/C] NM_145178 ATOH7 EXON Missense_R65G exm-rs7916697 10 69991853 [A/G] NM_145178 ATOH7 EXON Silent exm-rs1900004 10 70000881 [T/C] exm-rs3858145 10 70011838 [A/G] exm-rs12571093 10 70019371 [A/G] exm828742 10 70044031 [T/C] NM_022129 PBLD EXON Missense_H257R exm828746 10 70045105 [T/C] NM_022129,NM_001033083 PBLD,PBLD EXON Missense_A252T,Missense_G252S exm2276107 10 70045114 [C/G] NM_022129,NM_001033083 PBLD,PBLD EXON Missense_E249Q,Missense_E249Q exm828748 10 70045116 [T/C] NM_022129,NM_001033083 PBLD,PBLD EXON Missense_K248R,Missense_K248R exm828749 10 70045156 [T/C] NM_022129,NM_001033083 PBLD,PBLD EXON Missense_A235T,Missense_A235T exm828766 10 70048739 [T/C] NM_022129,NM_001033083 PBLD,PBLD EXON Missense_Y154C,Missense_Y154C exm828775 10 70051910 [G/C] NM_022129,NM_001033083 PBLD,PBLD EXON Missense_L123F,Missense_L123F exm828778 10 70051939 [A/G] NM_022129,NM_001033083 PBLD,PBLD EXON Nonsense_R114X,Nonsense_R114X exm828784 10 70056041 [C/G] NM_022129,NM_001033083 PBLD,PBLD EXON Missense_V89L,Missense_V89L exm828788 10 70056676 [A/G] NM_022129,NM_001033083 PBLD,PBLD EXON Nonsense_R51X,Nonsense_R51X exm828794 10 70066553 [A/G] NM_022129,NM_001033083 PBLD,PBLD EXON Missense_R17C,Missense_R17C exm828811 10 70098948 [A/G] NM_021644,NM_012207 HNRNPH3,HNRNPH3 EXON Missense_N148S,Missense_N163S exm828824 10 70101402 [T/G] NM_021644,NM_012207 HNRNPH3,HNRNPH3 EXON Missense_G264V,Missense_G279V exm828825 10 70101417 [G/C] NM_021644,NM_012207 HNRNPH3,HNRNPH3 EXON Missense_G269A,Missense_G284A exm828827 10 70101436 [C/G] NM_021644,NM_012207 HNRNPH3,HNRNPH3 EXON Missense_M275I,Missense_M290I exm828847 10 70136616 [T/C] NM_017987 RUFY2 EXON Missense_K475R exm828857 10 70139206 [T/C] NM_017987,NM_001042417 RUFY2,RUFY2 EXON Missense_A429T,Missense_A360T exm828859 10 70139235 [T/C] NM_017987,NM_001042417 RUFY2,RUFY2 EXON Missense_R419Q,Missense_R350Q exm828861 10 70141123 [T/C] NM_017987,NM_001042417 RUFY2,RUFY2 EXON Missense_M360V,Missense_M291V exm828863 10 70143577 [T/C] NM_017987,NM_001042417 RUFY2,RUFY2 EXON Missense_R341Q,Missense_R272Q exm828866 10 70143656 [T/C] NM_017987,NM_001042417 RUFY2,RUFY2 EXON Missense_V315M,Missense_V246M exm828868 10 70143816 [T/G] NM_017987,NM_001042417 RUFY2,RUFY2 EXON Missense_H307N,Missense_H238N exm828884 10 70156556 [T/C] NM_017987,NM_001042417 RUFY2,RUFY2 EXON Missense_I162V,Silent exm828892 10 70166523 [A/G] NM_017987,NM_001042417 RUFY2,RUFY2 EXON Missense_R33C,Silent exm2274413 10 70166595 [A/G] NM_017987,NM_001042417 RUFY2,RUFY2 EXON Missense_R9W,Silent exm828903 10 70178856 [T/C] NM_001080449 DNA2 EXON Missense_K968E exm828904 10 70178879 [A/G] NM_001080449 DNA2 EXON Missense_M960T exm828906 10 70179565 [T/C] NM_001080449 DNA2 EXON Missense_V928I exm828909 10 70179634 [T/G] NM_001080449 DNA2 EXON Missense_Q905K exm828915 10 70182061 [T/C] NM_001080449 DNA2 EXON Missense_Y873C exm828922 10 70182291 [T/C] NM_001080449 DNA2 EXON Missense_V825M exm828928 10 70182644 [T/C] NM_001080449 DNA2 EXON Missense_I738V exm828930 10 70190248 [A/C] NM_001080449 DNA2 EXON Missense_C718F exm828933 10 70190402 [T/C] NM_001080449 DNA2 EXON Missense_A667T exm828934 10 70190404 [T/A] NM_001080449 DNA2 EXON Missense_Y666F exm828948 10 70192040 [T/C] NM_001080449 DNA2 EXON Missense_R599H exm828949 10 70192041 [A/G] NM_001080449 DNA2 EXON Missense_R599C exm828953 10 70192265 [T/C] NM_001080449 DNA2 EXON Missense_N550S exm828954 10 70196829 [A/C] NM_001080449 DNA2 EXON Missense_A529S exm828962 10 70196945 [A/G] NM_001080449 DNA2 EXON Missense_I490T exm828968 10 70202743 [A/G] NM_001080449 DNA2 EXON Missense_T449I exm828982 10 70209845 [C/G] NM_001080449 DNA2 EXON Missense_K293N exm828985 10 70210004 [A/C] NM_001080449 DNA2 EXON Synonymous_L240L exm828996 10 70225520 [T/C] NM_001080449 DNA2 EXON Missense_E164G exm1683069 10 70229796 [C/G] NM_001080449 DNA2 EXON Missense_V67L exm829007 10 70229816 [T/C] NM_001080449 DNA2 EXON Missense_G60E exm829008 10 70229841 [A/C] NM_001080449 DNA2 EXON Missense_V52F exm829070 10 70276553 [C/G] NM_152707 SLC25A16 EXON Missense_V60L exm829080 10 70332271 [A/G] NM_030625 TET1 EXON Missense_K59R exm829082 10 70332312 [T/C] NM_030625 TET1 EXON Missense_L73F exm829087 10 70332355 [G/C] NM_030625 TET1 EXON Missense_T87S exm829092 10 70332477 [T/G] NM_030625 TET1 EXON Missense_V128F exm829093 10 70332510 [A/G] NM_030625 TET1 EXON Missense_D139N exm829100 10 70332580 [A/G] NM_030625 TET1 EXON Missense_D162G exm829102 10 70332591 [T/C] NM_030625 TET1 EXON Missense_L166F exm829104 10 70332672 [A/T] NM_030625 TET1 EXON Missense_S193T exm829109 10 70332862 [T/C] NM_030625 TET1 EXON Missense_A256V exm829110 10 70332865 [T/C] NM_030625 TET1 EXON Missense_T257I exm829111 10 70332891 [C/G] NM_030625 TET1 EXON Missense_P266A exm829116 10 70333047 [A/G] NM_030625 TET1 EXON Missense_G318S exm829117 10 70333056 [A/G] NM_030625 TET1 EXON Missense_T321A exm829119 10 70333081 [T/G] NM_030625 TET1 EXON Missense_F329C exm829123 10 70333111 [T/G] NM_030625 TET1 EXON Missense_L339R exm829124 10 70333117 [T/C] NM_030625 TET1 EXON Missense_A341V exm829130 10 70333398 [A/G] NM_030625 TET1 EXON Missense_V435I exm829134 10 70333555 [T/C] NM_030625 TET1 EXON Missense_S487L exm829141 10 70333803 [A/G] NM_030625 TET1 EXON Missense_S570G exm2271309 10 70346740 [T/C] NM_030625 TET1 Silent exm829147 10 70404509 [A/G] NM_030625 TET1 EXON Missense_S675G exm829148 10 70404515 [A/T] NM_030625 TET1 EXON Missense_C677S exm829149 10 70404533 [G/C] NM_030625 TET1 EXON Missense_Q683E exm829170 10 70404981 [A/G] NM_030625 TET1 EXON Missense_C832Y exm829173 10 70405053 [A/C] NM_030625 TET1 EXON Missense_P856Q exm829178 10 70405103 [A/G] NM_030625 TET1 EXON Missense_V873I exm829189 10 70405439 [T/G] NM_030625 TET1 EXON Missense_A985S exm829193 10 70405471 [T/A] NM_030625 TET1 EXON Missense_E995D exm829197 10 70405539 [A/G] NM_030625 TET1 EXON Missense_N1018S exm829198 10 70405541 [A/G] NM_030625 TET1 EXON Missense_K1019E exm829210 10 70405855 [A/G] NM_030625 TET1 EXON Missense_I1123M exm829212 10 70405959 [A/G] NM_030625 TET1 EXON Missense_R1158Q exm829213 10 70405962 [A/G] NM_030625 TET1 EXON Missense_R1159Q exm829215 10 70406048 [A/G] NM_030625 TET1 EXON Missense_D1188N exm829222 10 70406189 [G/C] NM_030625 TET1 EXON Missense_V1235L exm1683117 10 70406420 [A/G] NM_030625 TET1 EXON Missense_V1312M exm829242 10 70406520 [T/C] NM_030625 TET1 EXON Missense_P1345L exm829261 10 70426931 [A/G] NM_030625 TET1 EXON Missense_D1531N exm829267 10 70441172 [A/G] NM_030625 TET1 EXON Missense_D1614G exm829279 10 70446278 [T/C] NM_030625 TET1 EXON Missense_R1740C exm829281 10 70446295 [A/G] NM_030625 TET1 EXON Synonymous_T1745T exm2249332 10 70446295 [A/G] NM_030625 TET1 EXON Synonymous_T1745T exm829286 10 70446438 [A/G] NM_030625 TET1 EXON Missense_S1793N exm829287 10 70450582 [A/G] NM_030625 TET1 EXON Missense_V1808M exm829289 10 70450661 [A/T] NM_030625 TET1 EXON Missense_M1834K exm2249333 10 70451064 [A/G] NM_030625 TET1 EXON Synonymous_E1968E exm829323 10 70451542 [A/G] NM_030625 TET1 EXON Missense_V2128I exm829333 10 70496773 [A/C] NM_018237 CCAR1 EXON Missense_Q72K exm829365 10 70509381 [T/C] NM_018237 CCAR1 EXON Missense_R353W exm829384 10 70516125 [T/C] NM_018237 CCAR1 EXON Missense_P574L exm829395 10 70530978 [T/G] NM_018237 CCAR1 EXON Nonsense_E772X exm829422 10 70547705 [A/G] NM_018237 CCAR1 EXON Missense_V968I exm829439 10 70550991 [A/C] NM_018237 CCAR1 EXON Missense_Q1141K exm829449 10 70641860 [T/C] NM_152709,NM_001130160,NM_001130159,NM_001130161,NM_001130162 STOX1,STOX1,STOX1,STOX1,STOX1 EXON Missense_Y153H,Missense_Y153H,Missense_Y153H,Missense_Y153H,Missense_Y43H exm829455 10 70644115 [A/C] NM_152709,NM_001130160,NM_001130159,NM_001130161,NM_001130162 STOX1,STOX1,STOX1,STOX1,STOX1 EXON Missense_T188N,Silent,Missense_T188N,Missense_T188N,Missense_T78N exm829456 10 70644117 [T/C] NM_152709,NM_001130160,NM_001130159,NM_001130161,NM_001130162 STOX1,STOX1,STOX1,STOX1,STOX1 EXON Missense_P189S,Silent,Missense_P189S,Missense_P189S,Missense_P79S exm829467 10 70644475 [C/G] NM_152709,NM_001130160,NM_001130159,NM_001130161,NM_001130162 STOX1,STOX1,STOX1,STOX1,STOX1 EXON Missense_G308A,Silent,Silent,Missense_G308A,Missense_G198A exm829468 10 70644504 [T/C] NM_152709,NM_001130160,NM_001130159,NM_001130161,NM_001130162 STOX1,STOX1,STOX1,STOX1,STOX1 EXON Missense_R318C,Silent,Silent,Missense_R318C,Missense_R208C exm829469 10 70644528 [C/G] NM_152709,NM_001130160,NM_001130159,NM_001130161,NM_001130162 STOX1,STOX1,STOX1,STOX1,STOX1 EXON Missense_P326A,Silent,Silent,Missense_P326A,Missense_P216A exm829482 10 70644735 [A/G] NM_152709,NM_001130160,NM_001130159,NM_001130161,NM_001130162 STOX1,STOX1,STOX1,STOX1,STOX1 EXON Missense_T395A,Silent,Silent,Missense_T395A,Missense_T285A exm829488 10 70644981 [C/G] NM_152709,NM_001130160,NM_001130159,NM_001130161,NM_001130162 STOX1,STOX1,STOX1,STOX1,STOX1 EXON Missense_G477R,Silent,Silent,Missense_G477R,Missense_G367R exm829489 10 70645026 [T/C] NM_152709,NM_001130160,NM_001130159,NM_001130161,NM_001130162 STOX1,STOX1,STOX1,STOX1,STOX1 EXON Nonsense_R492X,Silent,Silent,Nonsense_R492X,Nonsense_R382X exm829490 10 70645027 [A/G] NM_152709,NM_001130160,NM_001130159,NM_001130161,NM_001130162 STOX1,STOX1,STOX1,STOX1,STOX1 EXON Missense_R492Q,Silent,Silent,Missense_R492Q,Missense_R382Q exm2274414 10 70645258 [A/C] NM_152709,NM_001130160,NM_001130159,NM_001130161,NM_001130162 STOX1,STOX1,STOX1,STOX1,STOX1 EXON Missense_P569H,Silent,Silent,Missense_P569H,Missense_P459H exm829499 10 70645296 [T/C] NM_152709,NM_001130160,NM_001130159,NM_001130161,NM_001130162 STOX1,STOX1,STOX1,STOX1,STOX1 EXON Missense_L582F,Silent,Silent,Missense_L582F,Missense_L472F exm829504 10 70645428 [T/C] NM_152709,NM_001130160,NM_001130159,NM_001130161,NM_001130162 STOX1,STOX1,STOX1,STOX1,STOX1 EXON Missense_S626P,Silent,Silent,Missense_S626P,Missense_S516P exm829505 10 70645439 [G/C] NM_152709,NM_001130160,NM_001130159,NM_001130161,NM_001130162 STOX1,STOX1,STOX1,STOX1,STOX1 EXON Missense_D629E,Silent,Silent,Missense_D629E,Missense_D519E exm829512 10 70645584 [A/G] NM_152709,NM_001130160,NM_001130159,NM_001130161,NM_001130162 STOX1,STOX1,STOX1,STOX1,STOX1 EXON Missense_V678M,Silent,Silent,Missense_V678M,Missense_V568M exm829528 10 70645843 [A/G] NM_152709,NM_001130160,NM_001130159,NM_001130161,NM_001130162 STOX1,STOX1,STOX1,STOX1,STOX1 EXON Missense_S764N,Silent,Silent,Missense_S764N,Missense_S654N exm829535 10 70646026 [A/T] NM_152709,NM_001130160,NM_001130159,NM_001130161,NM_001130162 STOX1,STOX1,STOX1,STOX1,STOX1 EXON Missense_N825I,Silent,Silent,Missense_N825I,Missense_N715I exm829541 10 70646130 [A/G] NM_152709,NM_001130160,NM_001130159,NM_001130161,NM_001130162 STOX1,STOX1,STOX1,STOX1,STOX1 EXON Missense_A860T,Silent,Silent,Missense_A860T,Missense_A750T exm829542 10 70646139 [A/G] NM_152709,NM_001130160,NM_001130159,NM_001130161,NM_001130162 STOX1,STOX1,STOX1,STOX1,STOX1 EXON Missense_A863T,Silent,Silent,Missense_A863T,Missense_A753T exm829545 10 70646265 [A/C] NM_152709,NM_001130160,NM_001130159,NM_001130161,NM_001130162 STOX1,STOX1,STOX1,STOX1,STOX1 EXON Missense_N905H,Silent,Silent,Missense_N905H,Missense_N795H exm829547 10 70646373 [T/C] NM_152709,NM_001130160,NM_001130159,NM_001130161,NM_001130162 STOX1,STOX1,STOX1,STOX1,STOX1 EXON Missense_R941W,Silent,Silent,Missense_R941W,Missense_R831W exm829549 10 70652345 [A/G] NM_152709,NM_001130160,NM_001130159,NM_001130161,NM_001130162 STOX1,STOX1,STOX1,STOX1,STOX1 EXON Synonymous_R941R,Missense_G155E,Missense_D222N,Synonymous_R941R,Synonymous_R831R exm829550 10 70652369 [T/C] NM_152709,NM_001130160,NM_001130159,NM_001130161,NM_001130162 STOX1,STOX1,STOX1,STOX1,STOX1 EXON Synonymous_N949N,Missense_I163T,Silent,Synonymous_N949N,Synonymous_N839N exm829554 10 70652467 [T/C] NM_152709,NM_001130160,NM_001130159,NM_001130161,NM_001130162 STOX1,STOX1,STOX1,STOX1,STOX1 EXON Missense_P982L,Silent,Silent,Missense_P982L,Missense_P872L exm829565 10 70666490 [A/C] NM_024045 DDX50 EXON Missense_H37Q exm829568 10 70666543 [A/C] NM_024045 DDX50 EXON Missense_D55A exm829572 10 70670072 [T/C] NM_024045 DDX50 EXON Missense_R132C exm2274415 10 70670907 [T/C] NM_024045 DDX50 EXON Missense_R182W exm829581 10 70670995 [T/C] NM_024045 DDX50 EXON Missense_S211L exm829603 10 70695778 [A/G] NM_024045 DDX50 EXON Missense_R513H exm1683261 10 70695798 [A/G] NM_024045 DDX50 EXON Missense_M520V exm829621 10 70706147 [A/G] NM_024045 DDX50 EXON Missense_A659T exm829623 10 70706219 [T/G] NM_024045 DDX50 EXON Missense_S683A exm829631 10 70715989 [G/C] NM_004728 DDX21 EXON Missense_G3A exm829637 10 70716061 [T/C] NM_004728 DDX21 EXON Missense_T27I exm829640 10 70719577 [A/C] NM_004728,NM_001256910 DDX21,DDX21 EXON Missense_K35Q,Silent exm829641 10 70719678 [A/C] NM_004728,NM_001256910 DDX21,DDX21 EXON Missense_D68E,Silent exm829652 10 70719904 [A/G] NM_004728,NM_001256910 DDX21,DDX21 EXON Missense_R144G,Missense_R76G exm829655 10 70719950 [T/C] NM_004728,NM_001256910 DDX21,DDX21 EXON Missense_P159L,Missense_P91L exm829667 10 70723110 [A/G] NM_004728,NM_001256910 DDX21,DDX21 EXON Missense_K224R,Missense_K156R exm829676 10 70725199 [A/G] NM_004728,NM_001256910 DDX21,DDX21 EXON Missense_K285E,Missense_K217E exm829684 10 70730020 [T/C] NM_004728,NM_001256910 DDX21,DDX21 EXON Missense_Y434H,Missense_Y366H exm829711 10 70741323 [G/C] NM_004728,NM_001256910 DDX21,DDX21 EXON Missense_V690L,Missense_V622L exm829718 10 70742398 [T/C] NM_004728,NM_001256910 DDX21,DDX21 EXON Missense_R728W,Missense_R660W exm829722 10 70742477 [T/C] NM_004728,NM_001256910 DDX21,DDX21 EXON Missense_P754L,Missense_P686L exm829724 10 70742516 [T/G] NM_004728,NM_001256910 DDX21,DDX21 EXON Missense_R767I,Missense_R699I exm829732 10 70748656 [A/G] NM_015634 KIAA1279 EXON Missense_E23G exm829748 10 70760271 [T/C] NM_015634 KIAA1279 EXON Missense_M173T exm829749 10 70760278 [C/G] NM_015634 KIAA1279 EXON Missense_E175D exm829752 10 70764833 [A/G] NM_015634 KIAA1279 EXON Missense_R186H exm829764 10 70768601 [A/G] NM_015634 KIAA1279 EXON Missense_C265Y exm829767 10 70770746 [T/C] NM_015634 KIAA1279 EXON Missense_M322T exm829782 10 70775774 [A/G] NM_015634 KIAA1279 EXON Missense_A490T exm829792 10 70847918 [T/C] NM_002727,NR_036430 SRGN,SRGN EXON Missense_M2T,Silent exm829795 10 70856852 [A/G] NM_002727,NR_036430 SRGN,SRGN EXON Missense_R31Q,Silent exm829801 10 70856963 [C/G] NM_002727,NR_036430 SRGN,SRGN EXON Missense_P68R,Silent exm829805 10 70863698 [T/C] NM_002727,NR_036430 SRGN,SRGN EXON Missense_S100F,Silent exm829810 10 70863740 [T/C] NM_002727,NR_036430 SRGN,SRGN EXON Missense_T114M,Silent exm829835 10 70916913 [A/G] NM_004896,NM_001035260 VPS26A,VPS26A EXON Missense_R127H,Missense_R127H exm829840 10 70925830 [A/G] NM_004896,NM_001035260 VPS26A,VPS26A EXON Missense_A231T,Missense_A231T exm829847 10 70930963 [A/G] NM_004896,NM_001035260 VPS26A,VPS26A EXON Missense_N308D,Silent exm829854 10 70940052 [T/C] NM_003171 SUPV3L1 EXON Missense_S2F exm829860 10 70940135 [A/C] NM_003171 SUPV3L1 EXON Missense_P30T exm829866 10 70940217 [A/G] NM_003171 SUPV3L1 EXON Missense_K57R exm829868 10 70940264 [A/G] NM_003171 SUPV3L1 EXON Missense_G73S exm829910-other 10 70958952 [T/C] NM_003171 SUPV3L1 EXON Synonymous_L433L exm829910 10 70958952 [T/C] NM_003171 SUPV3L1 EXON Synonymous_L433L exm829920 10 70967597 [T/C] NM_003171 SUPV3L1 EXON Missense_R609C exm2249335 10 70968485 [A/G] NM_003171 SUPV3L1 EXON Synonymous_L685L exm829935 10 70968505 [T/C] NM_003171 SUPV3L1 EXON Missense_P692L exm829941 10 70968564 [A/G] NM_003171 SUPV3L1 EXON Missense_G712S exm829943 10 70968609 [A/G] NM_003171 SUPV3L1 EXON Missense_D727N exm829944 10 70968613 [A/C] NM_003171 SUPV3L1 EXON Missense_A728E exm829948 10 70968696 [A/G] NM_003171 SUPV3L1 EXON Missense_M756V exm829960 10 70986996 [A/G] NM_025130 HKDC1 EXON Missense_D33N exm829962 10 70987024 [A/G] NM_025130 HKDC1 EXON Missense_R42Q exm829964 10 70987060 [A/G] NM_025130 HKDC1 EXON Missense_D54G exm829966 10 70987072 [T/C] NM_025130 HKDC1 EXON Missense_T58M exm829969 10 70987096 [T/C] NM_025130 HKDC1 EXON Missense_T66I exm829980 10 70992634 [T/C] NM_025130 HKDC1 EXON Missense_T114M exm829982 10 70992640 [A/G] NM_025130 HKDC1 EXON Missense_N116S exm829987 10 70992664 [T/C] NM_025130 HKDC1 EXON Missense_T124I exm830001 10 71000417 [A/G] NM_025130 HKDC1 EXON Missense_V201M exm830002 10 71000427 [T/C] NM_025130 HKDC1 EXON Missense_L204P exm830006 10 71000466 [A/G] NM_025130 HKDC1 EXON Missense_C217Y exm1683418 10 71003123 [T/C] NM_025130 HKDC1 Silent exm830040 10 71007172 [T/C] NM_025130 HKDC1 EXON Missense_P363L exm830046 10 71007287 [C/G] NM_025130 HKDC1 EXON Missense_K401N exm830049 10 71007342 [T/C] NM_025130 HKDC1 EXON Missense_H420Y exm830053 10 71008190 [T/C] NM_025130 HKDC1 EXON Missense_R426C exm830061 10 71008316 [A/G] NM_025130 HKDC1 EXON Missense_K468E exm1683436 10 71010301 [A/C] NM_025130 HKDC1 EXON Missense_I577L exm830088 10 71010407 [A/G] NM_025130 HKDC1 EXON Missense_K612R exm830091 10 71016847 [A/G] NM_025130 HKDC1 EXON Missense_D631G exm830098 10 71017116 [A/G] NM_025130 HKDC1 EXON Missense_D656N exm830100 10 71017173 [A/C] NM_025130 HKDC1 EXON Missense_L675M exm830107 10 71018589 [C/G] NM_025130 HKDC1 EXON Missense_G697A exm830111 10 71018660 [T/C] NM_025130 HKDC1 EXON Missense_W721R exm830112 10 71018662 [A/G] NM_025130 HKDC1 EXON Nonsense_W721X exm830122 10 71020932 [A/G] NM_025130 HKDC1 EXON Missense_I752V exm830130 10 71025345 [T/C] NM_025130 HKDC1 EXON Missense_R793W exm830134 10 71025447 [T/C] NM_025130 HKDC1 EXON Missense_R827W exm830138 10 71025483 [A/G] NM_025130 HKDC1 EXON Missense_A839T exm2249336 10 71025548 [T/C] NM_025130 HKDC1 EXON Synonymous_D860D exm830150 10 71026433 [T/C] NM_025130 HKDC1 EXON Missense_S892P exm830151 10 71026510 [A/C] NM_025130 HKDC1 EXON Missense_N917K exm830159 10 71055414 [T/C] NM_033497,NM_033498,NM_033500 HK1,HK1,HK1 EXON Missense_L18P,Missense_L18P,Silent exm830171 10 71060610 [A/G] NM_033497,NM_033498,NM_033500 HK1,HK1,HK1 EXON Silent,Silent,Missense_H7R exm830183 10 71075738 [T/C] NM_033497,NM_033498,NM_033500,NM_033496 HK1,HK1,HK1,HK1 EXON Silent,Silent,Silent,Missense_P10S exm2267007 10 71084361 [A/G] NM_033497,NM_033498,NM_033500,NM_033496,NM_000188 HK1,HK1,HK1,HK1,HK1 Silent,Silent,Silent,Silent,Silent exm-rs7072268 10 71099913 [T/C] NM_033497,NM_033498,NM_033500,NM_033496,NM_000188 HK1,HK1,HK1,HK1,HK1 Silent,Silent,Silent,Silent,Silent exm830222 10 71139691 [A/G] NM_033497,NM_033498,NM_033500,NM_033496,NM_000188 HK1,HK1,HK1,HK1,HK1 EXON Missense_V373I,Missense_V373I,Missense_V357I,Missense_V368I,Missense_V369I exm830242 10 71142410 [A/G] NM_033497,NM_033498,NM_033500,NM_033496,NM_000188 HK1,HK1,HK1,HK1,HK1 EXON Missense_H482R,Missense_H482R,Missense_H466R,Missense_H477R,Missense_H478R exm830248 10 71142499 [A/G] NM_033497,NM_033498,NM_033500,NM_033496,NM_000188 HK1,HK1,HK1,HK1,HK1 EXON Missense_V512M,Missense_V512M,Missense_V496M,Missense_V507M,Missense_V508M exm2249338 10 71158444 [T/C] NM_033497,NM_033498,NM_033500,NM_033496,NM_000188 HK1,HK1,HK1,HK1,HK1 EXON Synonymous_C827C,Synonymous_C827C,Synonymous_C811C,Synonymous_C822C,Synonymous_C823C exm830299 10 71160770 [T/C] NM_033497,NM_033498,NM_033500,NM_033496,NM_000188 HK1,HK1,HK1,HK1,HK1 EXON Missense_T882M,Missense_T882M,Missense_T866M,Missense_T877M,Missense_T878M exm830310 10 71164595 [T/C] NM_001057 TACR2 EXON Missense_H395R exm830314 10 71164653 [T/G] NM_001057 TACR2 EXON Missense_P376T exm830320 10 71164692 [T/C] NM_001057 TACR2 EXON Missense_T363A exm830321 10 71164742 [A/G] NM_001057 TACR2 EXON Missense_T346M exm830326 10 71164811 [T/C] NM_001057 TACR2 EXON Missense_R323H exm830331 10 71166876 [A/G] NM_001057 TACR2 EXON Missense_M301T exm830335 10 71167027 [T/C] NM_001057 TACR2 EXON Missense_T251A exm830341 10 71168685 [T/A] NM_001057 TACR2 EXON Missense_M245K exm830346 10 71168766 [G/C] NM_001057 TACR2 EXON Missense_S218T exm830347 10 71168778 [A/G] NM_001057 TACR2 EXON Missense_F214S exm830352 10 71174710 [A/G] NM_001057 TACR2 EXON Missense_T193M exm830355 10 71174729 [T/C] NM_001057 TACR2 EXON Missense_E187K exm830360 10 71174807 [T/C] NM_001057 TACR2 EXON Missense_A161T exm830361 10 71174821 [T/C] NM_001057 TACR2 EXON Nonsense_W156X exm830369 10 71175781 [T/G] NM_001057 TACR2 EXON Missense_Y100S exm830375 10 71175830 [A/C] NM_001057 TACR2 EXON Missense_A84S exm830381 10 71175895 [T/C] NM_001057 TACR2 EXON Missense_R62Q exm830382 10 71175920 [T/C] NM_001057 TACR2 EXON Missense_V54I exm830383 10 71175934 [A/G] NM_001057 TACR2 EXON Missense_T49M exm830384 10 71175941 [T/C] NM_001057 TACR2 EXON Missense_A47T exm830386 10 71175991 [T/C] NM_001057 TACR2 EXON Missense_S30N exm830387 10 71176012 [A/G] NM_001057 TACR2 EXON Missense_I23T exm830389 10 71176066 [T/C] NM_001057 TACR2 EXON Missense_D5G exm830394 10 71243452 [T/G] NM_012339 TSPAN15 EXON Missense_I34M exm830401 10 71243586 [T/C] NM_012339 TSPAN15 EXON Missense_I79T exm830402 10 71243603 [T/C] NM_012339 TSPAN15 EXON Missense_L85F exm830405 10 71243629 [A/T] NM_012339 TSPAN15 EXON Missense_Q93H exm830409 10 71244942 [A/G] NM_012339 TSPAN15 EXON Missense_G110S exm830411 10 71244945 [A/G] NM_012339 TSPAN15 EXON Missense_V111M exm830428 10 71265881 [A/G] NM_012339 TSPAN15 EXON Missense_R207H exm830430 10 71265934 [A/G] NM_012339 TSPAN15 EXON Missense_I225V exm830431 10 71265955 [A/G] NM_012339 TSPAN15 EXON Missense_T232A exm830438 10 71266675 [A/G] NM_012339 TSPAN15 EXON Missense_G276S exm1683561 10 71266676 [A/G] NM_012339 TSPAN15 EXON Missense_G276D exm830440 10 71266697 [T/C] NM_012339 TSPAN15 EXON Missense_A283V exm830442 10 71266703 [T/G] NM_012339 TSPAN15 EXON Missense_G285V exm830443 10 71266706 [T/C] NM_012339 TSPAN15 EXON Missense_T286M exm2267008 10 71321279 [A/G] exm830447 10 71332204 [A/G] NM_020999 NEUROG3 EXON Missense_F199S exm830459 10 71332540 [T/G] NM_020999 NEUROG3 EXON Missense_K87T exm830470 10 71332754 [C/G] NM_020999 NEUROG3 EXON Missense_E16Q exm830478 10 71391507 [A/G] NM_145306 C10orf35 EXON Missense_R3Q exm830482 10 71391560 [A/G] NM_145306 C10orf35 EXON Missense_T21A exm830490 10 71392646 [A/T] NM_145306 C10orf35 EXON Missense_D66V exm2249340 10 71392674 [T/C] NM_145306 C10orf35 EXON Synonymous_G75G exm830492 10 71392674 [T/C] NM_145306 C10orf35 EXON Synonymous_G75G exm830494 10 71392701 [A/T] NM_145306 C10orf35 EXON Missense_H84Q exm830501 10 71562415 [T/G] NM_080801,NM_080800,NM_080802,NM_001130103,NM_080798,NM_080805 COL13A1,COL13A1,COL13A1,COL13A1,COL13A1,COL13A1 EXON Missense_R79L,Missense_R79L,Missense_R79L,Missense_R79L,Missense_R79L,Missense_R79L exm830504 10 71562468 [T/G] NM_080801,NM_080800,NM_080802,NM_001130103,NM_080798,NM_080805 COL13A1,COL13A1,COL13A1,COL13A1,COL13A1,COL13A1 EXON Missense_D97Y,Missense_D97Y,Missense_D97Y,Missense_D97Y,Missense_D97Y,Missense_D97Y exm2217388 10 71582134 [T/C] NM_080801,NM_080800,NM_080802,NM_001130103,NM_080798,NM_080805 COL13A1,COL13A1,COL13A1,COL13A1,COL13A1,COL13A1 EXON Missense_L102F,Missense_L102F,Missense_L102F,Missense_L102F,Missense_L102F,Missense_L102F exm830510 10 71582188 [T/C] NM_080801,NM_080800,NM_080802,NM_001130103,NM_080798,NM_080805 COL13A1,COL13A1,COL13A1,COL13A1,COL13A1,COL13A1 EXON Missense_P120S,Missense_P120S,Missense_P120S,Missense_P120S,Missense_P120S,Missense_P120S exm-rs7077164 10 71583198 [T/C] NM_080801,NM_080800,NM_080802,NM_001130103,NM_080798,NM_080805 COL13A1,COL13A1,COL13A1,COL13A1,COL13A1,COL13A1 Silent,Silent,Silent,Silent,Silent,Silent exm-rs1227756 10 71588504 [A/G] NM_080801,NM_080800,NM_080802,NM_001130103,NM_080798,NM_080805 COL13A1,COL13A1,COL13A1,COL13A1,COL13A1,COL13A1 Silent,Silent,Silent,Silent,Silent,Silent exm830522 10 71634915 [A/G] NM_080801,NM_080800,NM_080802,NM_001130103,NM_080798,NM_080805 COL13A1,COL13A1,COL13A1,COL13A1,COL13A1,COL13A1 EXON Missense_R144H,Missense_R144H,Missense_R144H,Missense_R144H,Silent,Silent exm830529 10 71640274 [A/G] NM_080801,NM_080800,NM_080802,NM_001130103,NM_080798,NM_080805 COL13A1,COL13A1,COL13A1,COL13A1,COL13A1,COL13A1 EXON Missense_A151T,Missense_A151T,Missense_A151T,Missense_A151T,Silent,Silent exm830535 10 71647247 [A/G] NM_080801,NM_080800,NM_080802,NM_001130103,NM_080798,NM_080805 COL13A1,COL13A1,COL13A1,COL13A1,COL13A1,COL13A1 EXON Synonymous_P174P,Synonymous_P174P,Synonymous_P174P,Synonymous_P174P,Synonymous_P136P,Synonymous_P145P exm830555 10 71658478 [A/G] NM_080801,NM_080800,NM_080802,NM_001130103,NM_080798,NM_080805 COL13A1,COL13A1,COL13A1,COL13A1,COL13A1,COL13A1 EXON Silent,Missense_R228Q,Silent,Missense_R247Q,Missense_R190Q,Silent exm830562 10 71662507 [A/G] NM_080801,NM_080800,NM_080802,NM_001130103,NM_080798,NM_080805 COL13A1,COL13A1,COL13A1,COL13A1,COL13A1,COL13A1 EXON Missense_E240K,Missense_E243K,Missense_E240K,Missense_E262K,Missense_E205K,Missense_E211K exm830569 10 71677052 [A/G] NM_080801,NM_080800,NM_080802,NM_001130103,NM_080798,NM_080805 COL13A1,COL13A1,COL13A1,COL13A1,COL13A1,COL13A1 EXON Missense_R298Q,Missense_R301Q,Missense_R298Q,Missense_R320Q,Missense_R263Q,Missense_R269Q exm1683611 10 71678045 [T/C] NM_080801,NM_080800,NM_080802,NM_001130103,NM_080798,NM_080805 COL13A1,COL13A1,COL13A1,COL13A1,COL13A1,COL13A1 EXON Missense_A312V,Missense_A315V,Missense_A312V,Missense_A334V,Missense_A277V,Missense_A283V exm830611 10 71690231 [A/G] NM_080801,NM_080800,NM_080802,NM_001130103,NM_080798,NM_080805 COL13A1,COL13A1,COL13A1,COL13A1,COL13A1,COL13A1 EXON Missense_V503M,Missense_V506M,Missense_V503M,Missense_V525M,Missense_V468M,Missense_V474M exm830613 10 71690259 [T/G] NM_080801,NM_080800,NM_080802,NM_001130103,NM_080798,NM_080805 COL13A1,COL13A1,COL13A1,COL13A1,COL13A1,COL13A1 EXON Missense_S512I,Missense_S515I,Missense_S512I,Missense_S534I,Missense_S477I,Missense_S483I exm830614 10 71690307 [T/C] NM_080801,NM_080800,NM_080802,NM_001130103,NM_080798,NM_080805 COL13A1,COL13A1,COL13A1,COL13A1,COL13A1,COL13A1 EXON Missense_P528L,Missense_P531L,Missense_P528L,Missense_P550L,Missense_P493L,Missense_P499L exm830619 10 71695147 [A/G] NM_080801,NM_080800,NM_080802,NM_001130103,NM_080798,NM_080805 COL13A1,COL13A1,COL13A1,COL13A1,COL13A1,COL13A1 EXON Synonymous_P557P,Synonymous_P560P,Synonymous_P542P,Synonymous_P579P,Synonymous_P507P,Synonymous_P513P exm830622 10 71697443 [A/T] NM_080801,NM_080800,NM_080802,NM_001130103,NM_080798,NM_080805 COL13A1,COL13A1,COL13A1,COL13A1,COL13A1,COL13A1 EXON Missense_K584I,Missense_K587I,Missense_K569I,Missense_K606I,Missense_K534I,Missense_K540I exm830624 10 71697471 [T/C] NM_080801,NM_080800,NM_080802,NM_001130103,NM_080798,NM_080805 COL13A1,COL13A1,COL13A1,COL13A1,COL13A1,COL13A1 EXON Synonymous_P593P,Synonymous_P596P,Synonymous_P578P,Synonymous_P615P,Synonymous_P543P,Synonymous_P549P exm830631 10 71703887 [T/C] NM_080801,NM_080800,NM_080802,NM_001130103,NM_080798,NM_080805 COL13A1,COL13A1,COL13A1,COL13A1,COL13A1,COL13A1 EXON Missense_P608S,Missense_P599S,Missense_P581S,Missense_P630S,Missense_P558S,Missense_P552S exm830632 10 71703897 [T/C] NM_080801,NM_080800,NM_080802,NM_001130103,NM_080798,NM_080805 COL13A1,COL13A1,COL13A1,COL13A1,COL13A1,COL13A1 EXON Missense_I611T,Missense_I602T,Missense_I584T,Missense_I633T,Missense_I561T,Missense_I555T exm830650 10 71835508 [A/C] NM_018649 H2AFY2 EXON Missense_L32M exm830656 10 71835573 [T/G] NM_018649 H2AFY2 EXON Missense_I53M exm2267009 10 71856631 [A/G] NM_018649 H2AFY2 Silent exm830688 10 71868790 [T/C] NM_018649 H2AFY2 EXON Synonymous_A260A exm830698 10 71871347 [T/G] NM_018649 H2AFY2 EXON Missense_A343S exm830703 10 71871428 [A/G] NM_018649 H2AFY2 EXON Missense_D370N exm830709 10 71873987 [A/G] NM_001198696,NM_032797 AIFM2,AIFM2 EXON Missense_R357W,Missense_R357W exm830712 10 71874013 [T/C] NM_001198696,NM_032797 AIFM2,AIFM2 EXON Missense_R348Q,Missense_R348Q exm830715 10 71874085 [T/C] NM_001198696,NM_032797 AIFM2,AIFM2 EXON Missense_G324D,Missense_G324D exm830719 10 71874700 [A/G] NM_001198696,NM_032797 AIFM2,AIFM2 EXON Missense_R316W,Missense_R316W exm830721 10 71874726 [A/G] NM_001198696,NM_032797 AIFM2,AIFM2 EXON Missense_A307V,Missense_A307V exm830729 10 71874784 [T/C] NM_001198696,NM_032797 AIFM2,AIFM2 EXON Missense_D288N,Missense_D288N exm830739 10 71876390 [A/G] NM_001198696,NM_032797 AIFM2,AIFM2 EXON Missense_R253C,Missense_R253C exm830747 10 71876485 [T/C] NM_001198696,NM_032797 AIFM2,AIFM2 EXON Missense_R221Q,Missense_R221Q exm830756 10 71880301 [T/C] NM_001198696,NM_032797 AIFM2,AIFM2 EXON Missense_M157V,Missense_M157V exm830761 10 71880343 [A/G] NM_001198696,NM_032797 AIFM2,AIFM2 EXON Missense_R143W,Missense_R143W exm830762 10 71880348 [T/C] NM_001198696,NM_032797 AIFM2,AIFM2 EXON Missense_R141H,Missense_R141H exm830763 10 71880858 [A/G] NM_001198696,NM_032797 AIFM2,AIFM2 EXON Missense_M135T,Missense_M135T exm830766 10 71880966 [A/G] NM_001198696,NM_032797 AIFM2,AIFM2 EXON Missense_A99V,Missense_A99V exm830769 10 71883174 [A/C] NM_001198696,NM_032797 AIFM2,AIFM2 EXON Missense_L94R,Missense_L94R exm830773 10 71883223 [A/G] NM_001198696,NM_032797 AIFM2,AIFM2 EXON Missense_R78W,Missense_R78W exm1683687 10 71883662 [T/C] NM_001198696,NM_032797 AIFM2,AIFM2 Silent,Silent exm830796 10 71883836 [A/C] NM_001198696,NM_032797 AIFM2,AIFM2 EXON Missense_G2V,Missense_G2V exm830797 10 71899693 [T/C] NR_073582,NR_073595,NR_073592,NR_073591,NR_073593,NR_073594,NR_073581,NM_173555,NM_001040273,NR_073580 TYSND1,TYSND1,TYSND1,TYSND1,TYSND1,TYSND1,TYSND1,TYSND1,TYSND1,TYSND1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_R563Q,Silent,Silent exm830806 10 71899754 [A/G] NR_073582,NR_073595,NR_073592,NR_073591,NR_073593,NR_073594,NR_073581,NM_173555,NM_001040273,NR_073580 TYSND1,TYSND1,TYSND1,TYSND1,TYSND1,TYSND1,TYSND1,TYSND1,TYSND1,TYSND1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_R543C,Silent,Silent exm830807 10 71899756 [T/G] NR_073582,NR_073595,NR_073592,NR_073591,NR_073593,NR_073594,NR_073581,NM_173555,NM_001040273,NR_073580 TYSND1,TYSND1,TYSND1,TYSND1,TYSND1,TYSND1,TYSND1,TYSND1,TYSND1,TYSND1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_D542A,Silent,Silent exm830808 10 71899765 [T/C] NR_073582,NR_073595,NR_073592,NR_073591,NR_073593,NR_073594,NR_073581,NM_173555,NM_001040273,NR_073580 TYSND1,TYSND1,TYSND1,TYSND1,TYSND1,TYSND1,TYSND1,TYSND1,TYSND1,TYSND1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_R539H,Silent,Silent exm830812 10 71899822 [A/G] NR_073582,NR_073595,NR_073592,NR_073591,NR_073593,NR_073594,NR_073581,NM_173555,NM_001040273,NR_073580 TYSND1,TYSND1,TYSND1,TYSND1,TYSND1,TYSND1,TYSND1,TYSND1,TYSND1,TYSND1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_T520M,Silent,Silent exm830813 10 71899867 [T/C] NR_073582,NR_073595,NR_073592,NR_073591,NR_073593,NR_073594,NR_073581,NM_173555,NM_001040273,NR_073580 TYSND1,TYSND1,TYSND1,TYSND1,TYSND1,TYSND1,TYSND1,TYSND1,TYSND1,TYSND1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_N505S,Synonymous_X399X,Silent exm830818 10 71902459 [T/C] NR_073582,NR_073595,NR_073592,NR_073591,NR_073593,NR_073594,NR_073581,NM_173555,NM_001040273,NR_073580 TYSND1,TYSND1,TYSND1,TYSND1,TYSND1,TYSND1,TYSND1,TYSND1,TYSND1,TYSND1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_G483E,Silent,Silent exm830822 10 71902478 [A/G] NR_073582,NR_073595,NR_073592,NR_073591,NR_073593,NR_073594,NR_073581,NM_173555,NM_001040273,NR_073580 TYSND1,TYSND1,TYSND1,TYSND1,TYSND1,TYSND1,TYSND1,TYSND1,TYSND1,TYSND1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_H477Y,Silent,Silent exm830825 10 71902526 [T/C] NR_073582,NR_073595,NR_073592,NR_073591,NR_073593,NR_073594,NR_073581,NM_173555,NM_001040273,NR_073580 TYSND1,TYSND1,TYSND1,TYSND1,TYSND1,TYSND1,TYSND1,TYSND1,TYSND1,TYSND1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_V461M,Silent,Silent exm830838 10 71903634 [T/C] NR_073582,NR_073595,NR_073592,NR_073591,NR_073593,NR_073594,NR_073581,NM_173555,NM_001040273,NR_073580 TYSND1,TYSND1,TYSND1,TYSND1,TYSND1,TYSND1,TYSND1,TYSND1,TYSND1,TYSND1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_V421I,Silent,Silent exm830841 10 71903708 [T/C] NR_073582,NR_073595,NR_073592,NR_073591,NR_073593,NR_073594,NR_073581,NM_173555,NM_001040273,NR_073580 TYSND1,TYSND1,TYSND1,TYSND1,TYSND1,TYSND1,TYSND1,TYSND1,TYSND1,TYSND1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_R396H,Silent,Silent exm830860 10 71905780 [A/G] NR_073582,NR_073592,NR_073591,NR_073593,NR_073594,NR_073581,NM_173555,NM_001040273,NR_073580 TYSND1,TYSND1,TYSND1,TYSND1,TYSND1,TYSND1,TYSND1,TYSND1,TYSND1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_L188P,Missense_L188P,Silent exm830868 10 71906150 [T/C] NR_073582,NR_073592,NR_073591,NR_073593,NR_073594,NR_073581,NM_173555,NM_001040273,NR_073580 TYSND1,TYSND1,TYSND1,TYSND1,TYSND1,TYSND1,TYSND1,TYSND1,TYSND1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_T65A,Missense_T65A,Silent exm830893 10 71921643 [T/C] NM_001142648,NM_020150 SAR1A,SAR1A EXON Missense_N10S,Missense_N10S exm830951 10 72014967 [T/G] NM_022146 NPFFR1 EXON Missense_R347S exm830974 10 72015419 [A/C] NM_022146 NPFFR1 EXON Missense_R196L exm830975 10 72015429 [A/C] NM_022146 NPFFR1 EXON Missense_A193S exm830977 10 72015573 [T/G] NM_022146 NPFFR1 EXON Missense_I145L exm830978 10 72020427 [T/C] NM_022146 NPFFR1 EXON Missense_V131I exm830990 10 72025953 [T/C] NM_022146 NPFFR1 EXON Missense_V68M exm830994 10 72026028 [T/C] NM_022146 NPFFR1 EXON Missense_A43T exm830996 10 72026149 [T/C] NM_022146 NPFFR1 Silent exm831000 10 72061120 [A/G] NM_018239,NM_207119,NM_018205 LRRC20,LRRC20,LRRC20 EXON Missense_P132L,Missense_P182L,Missense_P126L exm831001 10 72061124 [T/C] NM_018239,NM_207119,NM_018205 LRRC20,LRRC20,LRRC20 EXON Missense_A131T,Missense_A181T,Missense_A125T exm831011 10 72061211 [A/G] NM_018239,NM_207119,NM_018205 LRRC20,LRRC20,LRRC20 EXON Missense_R102C,Missense_R152C,Missense_R96C exm831035 10 72100312 [A/G] NM_018239,NM_207119,NM_018205 LRRC20,LRRC20,LRRC20 EXON Silent,Nonsense_R77X,Nonsense_R77X exm2249342 10 72113697 [A/G] NM_018239,NM_207119,NM_018205 LRRC20,LRRC20,LRRC20 Silent,Silent,Silent exm831044 10 72136238 [T/C] NM_018239,NM_207119,NM_018205 LRRC20,LRRC20,LRRC20 EXON Missense_E18K,Missense_E18K,Missense_E18K exm1683763 10 72136259 [A/T] NM_018239,NM_207119,NM_018205 LRRC20,LRRC20,LRRC20 EXON Nonsense_R11X,Nonsense_R11X,Nonsense_R11X exm831053 10 72179709 [A/G] NM_004096 EIF4EBP2 EXON Missense_R62H exm831059 10 72179837 [G/C] NM_004096 EIF4EBP2 EXON Missense_D105H exm831072 10 72192820 [A/G] NM_018055 NODAL EXON Missense_H306Y exm831073 10 72192832 [A/G] NM_018055 NODAL EXON Missense_R302C exm2217401 10 72195155 [T/C] NM_018055 NODAL EXON Missense_G260R exm2217402 10 72195326 [T/C] NM_018055 NODAL EXON Missense_E203K exm831085 10 72195347 [A/G] NM_018055 NODAL EXON Missense_L196F exm831091 10 72195386 [A/G] NM_018055 NODAL EXON Missense_R183W exm831092 10 72195388 [A/G] NM_018055 NODAL EXON Missense_P182L exm831095 10 72195415 [A/G] NM_018055 NODAL EXON Missense_M173T exm831096 10 72195439 [T/C] NM_018055 NODAL EXON Missense_H165R exm831101 10 72195652 [T/C] NM_018055 NODAL EXON Missense_R94Q exm831102 10 72195692 [A/G] NM_018055 NODAL EXON Missense_F81L exm831122 10 72285816 [T/C] NM_014431 PALD1 EXON Missense_S37P exm831143 10 72289687 [A/G] NM_014431 PALD1 EXON Missense_V111M exm831145 10 72289699 [A/G] NM_014431 PALD1 EXON Missense_V115M exm831154 10 72289778 [T/C] NM_014431 PALD1 EXON Missense_S141L exm1683813 10 72291055 [A/G] NM_014431 PALD1 EXON Missense_I160V exm831159 10 72291092 [A/G] NM_014431 PALD1 EXON Missense_R172H exm831161 10 72291109 [C/G] NM_014431 PALD1 EXON Missense_V178L exm2249343 10 72291144 [T/C] NM_014431 PALD1 EXON Synonymous_H189H exm831164 10 72291144 [T/C] NM_014431 PALD1 EXON Synonymous_H189H exm831167 10 72291172 [A/G] NM_014431 PALD1 EXON Missense_V199I exm831170 10 72292400 [G/C] NM_014431 PALD1 EXON Missense_S219R exm831173 10 72292441 [T/G] NM_014431 PALD1 EXON Missense_W233L exm831187 10 72293702 [T/C] NM_014431 PALD1 EXON Missense_R299C exm831191 10 72293732 [A/G] NM_014431 PALD1 EXON Missense_V309I exm831195 10 72293804 [T/C] NM_014431 PALD1 EXON Missense_R333C exm831200 10 72294183 [T/C] NM_014431 PALD1 EXON Missense_A342V exm831201 10 72294192 [T/C] NM_014431 PALD1 EXON Missense_T345M exm831210 10 72294583 [T/C] NM_014431 PALD1 EXON Missense_P404L exm2276110 10 72298067 [A/G] NM_014431 PALD1 EXON Missense_R452H exm831222 10 72298079 [T/C] NM_014431 PALD1 EXON Missense_A456V exm831231 10 72298670 [T/C] NM_014431 PALD1 EXON Missense_P492L exm831233 10 72298676 [T/C] NM_014431 PALD1 EXON Missense_A494V exm2217405 10 72298713 [A/C] NM_014431 PALD1 EXON Missense_F506L exm831237 10 72298717 [T/C] NM_014431 PALD1 EXON Missense_R508W exm831238 10 72298745 [T/C] NM_014431 PALD1 EXON Missense_T517M exm831247 10 72298932 [A/G] NM_014431 PALD1 EXON Missense_V552M exm831261 10 72299493 [T/C] NM_014431 PALD1 EXON Missense_P628L exm831265 10 72300885 [T/C] NM_014431 PALD1 EXON Missense_R646W exm831266 10 72300886 [A/G] NM_014431 PALD1 EXON Missense_R646Q exm831267 10 72300891 [A/G] NM_014431 PALD1 EXON Missense_A648T exm831270 10 72300961 [T/C] NM_014431 PALD1 EXON Missense_A671V exm831274 10 72301268 [A/G] NM_014431 PALD1 EXON Missense_K700R exm831277 10 72307098 [T/C] NM_014431 PALD1 EXON Missense_H720Y exm831278 10 72307101 [T/C] NM_014431 PALD1 EXON Missense_R721C exm831289 10 72324150 [T/C] NM_014431 PALD1 EXON Missense_R765W exm831291 10 72324161 [C/G] NM_014431 PALD1 EXON Missense_Q768H exm831292 10 72324165 [T/C] NM_014431 PALD1 EXON Missense_R770W exm831297 10 72326344 [T/C] NM_014431 PALD1 EXON Missense_S809L exm831298 10 72326361 [A/G] NM_014431 PALD1 EXON Missense_E815K exm831303 10 72326400 [A/G] NM_014431 PALD1 EXON Missense_G828R exm-rs10999409 10 72332440 [T/C] exm831321 10 72357976 [A/G] NM_001083116,NM_005041 PRF1,PRF1 EXON Missense_P501S,Missense_P501S exm831332 10 72358120 [T/C] NM_001083116,NM_005041 PRF1,PRF1 EXON Missense_V453M,Missense_V453M exm831336 10 72358167 [A/G] NM_001083116,NM_005041 PRF1,PRF1 EXON Missense_A437V,Missense_A437V exm831339 10 72358215 [A/C] NM_001083116,NM_005041 PRF1,PRF1 EXON Missense_F421C,Missense_F421C exm831356 10 72358407 [T/C] NM_001083116,NM_005041 PRF1,PRF1 EXON Missense_R357Q,Missense_R357Q exm831360 10 72358477 [T/C] NM_001083116,NM_005041 PRF1,PRF1 EXON Missense_G334S,Missense_G334S exm831375 10 72358611 [A/G] NM_001083116,NM_005041 PRF1,PRF1 EXON Missense_T289M,Missense_T289M exm831384 10 72358722 [T/C] NM_001083116,NM_005041 PRF1,PRF1 EXON Missense_N252S,Missense_N252S exm831387 10 72358773 [A/G] NM_001083116,NM_005041 PRF1,PRF1 EXON Missense_A235V,Missense_A235V exm831389 10 72358803 [T/C] NM_001083116,NM_005041 PRF1,PRF1 EXON Missense_R225Q,Missense_R225Q exm831394 10 72358914 [A/G] NM_001083116,NM_005041 PRF1,PRF1 EXON Missense_P188L,Missense_P188L exm831396 10 72358932 [T/C] NM_001083116,NM_005041 PRF1,PRF1 EXON Missense_H182R,Missense_H182R exm831400 10 72360130 [A/G] NM_001083116,NM_005041 PRF1,PRF1 EXON Missense_R177C,Missense_R177C exm831406 10 72360214 [T/C] NM_001083116,NM_005041 PRF1,PRF1 EXON Missense_G149S,Missense_G149S exm831409 10 72360256 [T/C] NM_001083116,NM_005041 PRF1,PRF1 EXON Missense_V135M,Missense_V135M exm831416 10 72360387 [A/G] NM_001083116,NM_005041 PRF1,PRF1 EXON Missense_A91V,Missense_A91V exm1683890 10 72360457 [A/G] NM_001083116,NM_005041 PRF1,PRF1 EXON Missense_R68W,Missense_R68W exm1683891 10 72360496 [A/G] NM_001083116,NM_005041 PRF1,PRF1 EXON Missense_R55C,Missense_R55C exm831422 10 72360498 [T/C] NM_001083116,NM_005041 PRF1,PRF1 EXON Missense_R54H,Missense_R54H exm831423 10 72360547 [T/C] NM_001083116,NM_005041 PRF1,PRF1 EXON Missense_V38M,Missense_V38M exm831426 10 72360577 [A/G] NM_001083116,NM_005041 PRF1,PRF1 EXON Missense_R28C,Missense_R28C exm831427 10 72360580 [T/C] NM_001083116,NM_005041 PRF1,PRF1 EXON Missense_A27T,Missense_A27T exm831431 10 72360648 [T/C] NM_001083116,NM_005041 PRF1,PRF1 EXON Missense_R4H,Missense_R4H exm831442 10 72434374 [T/C] NM_139155,NM_080722 ADAMTS14,ADAMTS14 EXON Missense_R49W,Missense_R49W exm1683901 10 72434375 [A/G] NM_139155,NM_080722 ADAMTS14,ADAMTS14 EXON Missense_R49Q,Missense_R49Q exm831451 10 72434464 [T/C] NM_139155,NM_080722 ADAMTS14,ADAMTS14 EXON Missense_H79Y,Missense_H79Y exm831462 10 72434593 [T/C] NM_139155,NM_080722 ADAMTS14,ADAMTS14 EXON Missense_R122W,Missense_R122W exm831464 10 72434602 [T/C] NM_139155,NM_080722 ADAMTS14,ADAMTS14 EXON Missense_R125W,Missense_R125W exm831466 10 72434642 [A/G] NM_139155,NM_080722 ADAMTS14,ADAMTS14 EXON Missense_E138G,Missense_E138G exm831468 10 72434674 [T/C] NM_139155,NM_080722 ADAMTS14,ADAMTS14 EXON Missense_R149W,Missense_R149W exm831469 10 72434675 [A/G] NM_139155,NM_080722 ADAMTS14,ADAMTS14 EXON Missense_R149Q,Missense_R149Q exm-rs4747078 10 72456807 [A/G] NM_139155,NM_080722 ADAMTS14,ADAMTS14 Silent,Silent exm831476 10 72462080 [T/C] NM_139155,NM_080722 ADAMTS14,ADAMTS14 EXON Missense_R179C,Missense_R179C exm831480 10 72462095 [A/G] NM_139155,NM_080722 ADAMTS14,ADAMTS14 EXON Missense_D184N,Missense_D184N exm831482 10 72462119 [T/C] NM_139155,NM_080722 ADAMTS14,ADAMTS14 EXON Missense_R192W,Missense_R192W exm831484 10 72462171 [A/G] NM_139155,NM_080722 ADAMTS14,ADAMTS14 EXON Missense_R209Q,Missense_R209Q exm831494 10 72468410 [A/G] NM_139155,NM_080722 ADAMTS14,ADAMTS14 EXON Missense_R249Q,Missense_R249Q exm831499 10 72468473 [T/C] NM_139155,NM_080722 ADAMTS14,ADAMTS14 EXON Missense_S270L,Missense_S270L exm-rs1816002 10 72483010 [T/C] NM_139155,NM_080722 ADAMTS14,ADAMTS14 Silent,Silent exm831511 10 72489084 [T/C] NM_139155,NM_080722 ADAMTS14,ADAMTS14 EXON Missense_V302A,Missense_V302A exm831512 10 72489087 [A/G] NM_139155,NM_080722 ADAMTS14,ADAMTS14 EXON Missense_H303R,Missense_H303R exm831516 10 72489128 [T/C] NM_139155,NM_080722 ADAMTS14,ADAMTS14 EXON Nonsense_R317X,Nonsense_R317X exm831522 10 72489879 [A/G] NM_139155,NM_080722 ADAMTS14,ADAMTS14 EXON Missense_G326R,Missense_G326R exm831523 10 72489891 [T/C] NM_139155,NM_080722 ADAMTS14,ADAMTS14 EXON Missense_R330C,Missense_R330C exm831526 10 72489933 [T/C] NM_139155,NM_080722 ADAMTS14,ADAMTS14 EXON Missense_R344C,Missense_R344C exm831531 10 72492011 [A/G] NM_139155,NM_080722 ADAMTS14,ADAMTS14 EXON Synonymous_G371G,Synonymous_G368G exm831569 10 72500763 [T/C] NM_139155,NM_080722 ADAMTS14,ADAMTS14 EXON Missense_L593P,Missense_L590P exm831578 10 72500855 [T/C] NM_139155,NM_080722 ADAMTS14,ADAMTS14 EXON Missense_R624C,Missense_R621C exm831582 10 72503305 [T/C] NM_139155,NM_080722 ADAMTS14,ADAMTS14 EXON Synonymous_D645D,Synonymous_D642D exm831588 10 72503400 [A/G] NM_139155,NM_080722 ADAMTS14,ADAMTS14 EXON Missense_R677Q,Missense_R674Q exm831618 10 72509622 [C/G] NM_139155,NM_080722 ADAMTS14,ADAMTS14 EXON Missense_G773R,Missense_G770R exm831619 10 72509640 [T/C] NM_139155,NM_080722 ADAMTS14,ADAMTS14 EXON Missense_R779W,Missense_R776W exm1683950 10 72511262 [A/G] NM_139155,NM_080722 ADAMTS14,ADAMTS14 EXON Missense_R822H,Missense_R819H exm2249344 10 72511362 [A/G] NM_139155,NM_080722 ADAMTS14,ADAMTS14 EXON Synonymous_A855A,Synonymous_A852A exm831639 10 72511876 [C/G] NM_139155,NM_080722 ADAMTS14,ADAMTS14 EXON Missense_C877W,Missense_C874W exm831641 10 72511880 [T/C] NM_139155,NM_080722 ADAMTS14,ADAMTS14 EXON Missense_R879C,Missense_R876C exm831642 10 72511881 [A/G] NM_139155,NM_080722 ADAMTS14,ADAMTS14 EXON Missense_R879H,Missense_R876H exm831645 10 72511968 [T/C] NM_139155,NM_080722 ADAMTS14,ADAMTS14 EXON Missense_P908L,Missense_P905L exm831651 10 72513669 [T/C] NM_139155,NM_080722 ADAMTS14,ADAMTS14 EXON Missense_P951L,Missense_P948L exm831661 10 72517720 [G/C] NM_139155,NM_080722 ADAMTS14,ADAMTS14 EXON Missense_C983W,Missense_C980W exm831664 10 72517763 [T/C] NM_139155,NM_080722 ADAMTS14,ADAMTS14 EXON Missense_C998R,Missense_C995R exm831667 10 72517796 [A/G] NM_139155,NM_080722 ADAMTS14,ADAMTS14 EXON Missense_E1009K,Missense_E1006K exm831669 10 72517830 [A/G] NM_139155,NM_080722 ADAMTS14,ADAMTS14 EXON Missense_S1020N,Missense_S1017N exm831677 10 72518012 [T/C] NM_139155,NM_080722 ADAMTS14,ADAMTS14 EXON Missense_P1053L,Missense_P1050L exm831692 10 72520254 [T/C] NM_139155,NM_080722 ADAMTS14,ADAMTS14 EXON Missense_P1109L,Missense_P1106L exm831710 10 72520553 [A/G] NM_139155,NM_080722 ADAMTS14,ADAMTS14 EXON Missense_G1209R,Missense_G1206R exm1683982 10 72531154 [A/G] NM_152710 TBATA EXON Missense_S345L exm831718 10 72531186 [T/C] NM_152710 TBATA EXON Missense_M334I exm831726 10 72532300 [T/C] NM_152710 TBATA EXON Missense_I314V exm831728 10 72532314 [A/G] NM_152710 TBATA EXON Missense_P309L exm831747 10 72535007 [T/C] NM_152710 TBATA EXON Missense_R237Q exm831749 10 72536909 [T/C] NM_152710 TBATA EXON Synonymous_L230L exm1683993 10 72536929 [A/G] NM_152710 TBATA EXON Missense_L224F exm831757 10 72537066 [T/C] NM_152710 TBATA EXON Missense_R178Q exm831766 10 72538394 [T/C] NM_152710 TBATA Silent exm831783 10 72541573 [T/G] NM_152710 TBATA EXON Missense_H87Q exm831784 10 72541582 [T/G] NM_152710 TBATA EXON Missense_H84Q exm831786 10 72541595 [T/C] NM_152710 TBATA EXON Missense_R80Q exm831789 10 72541646 [A/G] NM_152710 TBATA EXON Missense_T63I exm831791 10 72541673 [T/C] NM_152710 TBATA EXON Missense_R54Q exm831794 10 72541694 [A/G] NM_152710 TBATA EXON Missense_V47A exm831797 10 72541725 [T/G] NM_152710 TBATA EXON Missense_P37T exm831798 10 72541754 [T/C] NM_152710 TBATA EXON Missense_R27H exm831813 10 72604246 [A/G] NM_003901 SGPL1 EXON Missense_Y15C exm831814 10 72604263 [T/G] NM_003901 SGPL1 EXON Missense_V21L exm831837 10 72628170 [C/G] NM_003901 SGPL1 EXON Missense_K228N exm831852 10 72633115 [A/G] NM_003901 SGPL1 EXON Missense_Y356C exm831856 10 72633169 [A/G] NM_003901 SGPL1 EXON Missense_Y374C exm831862 10 72633267 [T/G] NM_003901 SGPL1 EXON Missense_A407S exm831864 10 72633331 [A/G] NM_003901 SGPL1 EXON Missense_R428H exm831866 10 72635282 [C/G] NM_003901 SGPL1 EXON Missense_L474F exm1684031 10 72636326 [A/G] NM_003901 SGPL1 EXON Missense_A492T exm831882 10 72637078 [T/C] NM_003901 SGPL1 EXON Missense_P565S exm831887 10 72643730 [A/G] NM_000281 PCBD1 EXON Nonsense_Q98X exm831889 10 72643759 [T/C] NM_000281 PCBD1 EXON Missense_R88Q exm831895 10 72644920 [T/C] NM_000281 PCBD1 EXON Missense_V69M exm2249345 10 72710564 [A/C] exm2259628 10 72744630 [T/C] exm-rs10762420 10 72813306 [A/G] exm831908 10 72972771 [T/C] NM_001244889,NM_170744 UNC5B,UNC5B EXON Missense_A10V,Missense_A10V exm-rs16928529 10 72982985 [T/G] NM_001244889,NM_170744 UNC5B,UNC5B Silent,Silent exm831926 10 73039801 [T/C] NM_001244889,NM_170744 UNC5B,UNC5B EXON Synonymous_T101T,Synonymous_T101T exm831935 10 73044596 [T/C] NM_001244889,NM_170744 UNC5B,UNC5B EXON Missense_R142C,Missense_R142C exm831940 10 73045158 [A/G] NM_001244889,NM_170744 UNC5B,UNC5B EXON Missense_R175H,Missense_R175H exm831942 10 73045184 [A/G] NM_001244889,NM_170744 UNC5B,UNC5B EXON Missense_E184K,Missense_E184K exm831951 10 73046546 [T/C] NM_001244889,NM_170744 UNC5B,UNC5B EXON Missense_S218L,Missense_S218L exm831961 10 73046617 [A/G] NM_001244889,NM_170744 UNC5B,UNC5B EXON Missense_I242V,Missense_I242V exm831963 10 73046625 [T/C] NM_001244889,NM_170744 UNC5B,UNC5B EXON Synonymous_Y244Y,Synonymous_Y244Y exm831984 10 73048411 [G/C] NM_001244889,NM_170744 UNC5B,UNC5B EXON Missense_P330A,Missense_P330A exm831986 10 73048423 [A/G] NM_001244889,NM_170744 UNC5B,UNC5B EXON Missense_G334R,Missense_G334R exm831992 10 73050716 [A/G] NM_001244889,NM_170744 UNC5B,UNC5B EXON Missense_V371M,Missense_V382M exm831996 10 73050753 [T/G] NM_001244889,NM_170744 UNC5B,UNC5B EXON Missense_V383G,Missense_V394G exm832000 10 73050774 [A/G] NM_001244889,NM_170744 UNC5B,UNC5B EXON Missense_R390H,Missense_R401H exm832004 10 73050791 [A/G] NM_001244889,NM_170744 UNC5B,UNC5B EXON Missense_D396N,Missense_D407N exm832014 10 73051195 [T/C] NM_001244889,NM_170744 UNC5B,UNC5B EXON Missense_P423L,Missense_P434L exm832017 10 73051239 [A/G] NM_001244889,NM_170744 UNC5B,UNC5B EXON Missense_A438T,Missense_A449T exm832021 10 73051273 [A/G] NM_001244889,NM_170744 UNC5B,UNC5B EXON Missense_Q449R,Missense_Q460R exm832030 10 73051434 [A/G] NM_001244889,NM_170744 UNC5B,UNC5B EXON Missense_D503N,Missense_D514N exm832042 10 73051572 [A/G] NM_001244889,NM_170744 UNC5B,UNC5B EXON Missense_G549S,Missense_G560S exm832050 10 73053220 [A/G] NM_001244889,NM_170744 UNC5B,UNC5B EXON Missense_G600S,Missense_G611S exm832057 10 73053281 [A/G] NM_001244889,NM_170744 UNC5B,UNC5B EXON Missense_R620H,Missense_R631H exm832059 10 73053458 [A/G] NM_001244889,NM_170744 UNC5B,UNC5B EXON Missense_E637G,Missense_E648G exm832068 10 73053685 [G/C] NM_001244889,NM_170744 UNC5B,UNC5B EXON Missense_L713V,Missense_L724V exm832083 10 73056387 [G/C] NM_001244889,NM_170744 UNC5B,UNC5B EXON Missense_T782S,Missense_T793S exm832096 10 73056472 [A/G] NM_001244889,NM_170744 UNC5B,UNC5B EXON Missense_I810M,Missense_I821M exm832108 10 73057763 [A/G] NM_001244889,NM_170744 UNC5B,UNC5B EXON Missense_R852H,Missense_R863H exm832115 10 73057842 [A/G] NM_001244889,NM_170744 UNC5B,UNC5B EXON Missense_M878I,Missense_M889I exm832134 10 73082563 [A/G] NR_033414,NR_033413,NM_001174098,NM_018344 SLC29A3,SLC29A3,SLC29A3,SLC29A3 EXON Silent,Silent,Missense_R37G,Missense_R37G exm832135 10 73082579 [A/G] NR_033414,NR_033413,NM_001174098,NM_018344 SLC29A3,SLC29A3,SLC29A3,SLC29A3 EXON Silent,Silent,Missense_S42N,Missense_S42N exm832136 10 73082585 [A/G] NR_033414,NR_033413,NM_001174098,NM_018344 SLC29A3,SLC29A3,SLC29A3,SLC29A3 EXON Silent,Silent,Missense_R44Q,Missense_R44Q exm832137 10 73082623 [T/C] NR_033414,NR_033413,NM_001174098,NM_018344 SLC29A3,SLC29A3,SLC29A3,SLC29A3 EXON Silent,Silent,Missense_R57C,Missense_R57C exm832140 10 73082639 [T/G] NR_033414,NR_033413,NM_001174098,NM_018344 SLC29A3,SLC29A3,SLC29A3,SLC29A3 EXON Silent,Silent,Missense_L62R,Missense_L62R exm832145 10 73082710 [T/C] NR_033414,NR_033413,NM_001174098,NM_018344 SLC29A3,SLC29A3,SLC29A3,SLC29A3 EXON Silent,Silent,Missense_P86S,Missense_P86S exm832151 10 73082780 [T/C] NR_033414,NR_033413,NM_001174098,NM_018344 SLC29A3,SLC29A3,SLC29A3,SLC29A3 EXON Silent,Silent,Missense_T109I,Missense_T109I exm832154 10 73103969 [T/C] NR_033414,NR_033413,NM_001174098,NM_018344 SLC29A3,SLC29A3,SLC29A3,SLC29A3 EXON Silent,Silent,Missense_Y121H,Missense_Y121H exm832155 10 73103990 [A/G] NR_033414,NR_033413,NM_001174098,NM_018344 SLC29A3,SLC29A3,SLC29A3,SLC29A3 EXON Silent,Silent,Missense_V128I,Missense_V128I exm1684102 10 73104002 [A/G] NR_033414,NR_033413,NM_001174098,NM_018344 SLC29A3,SLC29A3,SLC29A3,SLC29A3 EXON Silent,Silent,Missense_V132M,Missense_V132M exm832165 10 73111408 [T/C] NR_033414,NR_033413,NM_001174098,NM_018344 SLC29A3,SLC29A3,SLC29A3,SLC29A3 EXON Silent,Silent,Missense_S177F,Missense_S177F exm832166 10 73111419 [T/C] NR_033414,NR_033413,NM_001174098,NM_018344 SLC29A3,SLC29A3,SLC29A3,SLC29A3 EXON Silent,Silent,Missense_R181C,Missense_R181C exm832167 10 73111423 [T/G] NR_033414,NR_033413,NM_001174098,NM_018344 SLC29A3,SLC29A3,SLC29A3,SLC29A3 EXON Silent,Silent,Missense_G182V,Missense_G182V exm832178 10 73115856 [T/C] NR_033414,NR_033413,NM_001174098,NM_018344 SLC29A3,SLC29A3,SLC29A3,SLC29A3 EXON Silent,Silent,Missense_T229M,Missense_T229M exm832180 10 73115864 [A/G] NR_033414,NR_033413,NM_001174098,NM_018344 SLC29A3,SLC29A3,SLC29A3,SLC29A3 EXON Silent,Silent,Missense_A232T,Missense_A232T exm832184 10 73115915 [A/G] NR_033414,NR_033413,NM_001174098,NM_018344 SLC29A3,SLC29A3,SLC29A3,SLC29A3 EXON Silent,Silent,Missense_A249T,Missense_A249T exm832186 10 73115934 [T/C] NR_033414,NR_033413,NM_001174098,NM_018344 SLC29A3,SLC29A3,SLC29A3,SLC29A3 EXON Silent,Silent,Missense_T255M,Missense_T255M exm832189 10 73115942 [A/G] NR_033414,NR_033413,NM_001174098,NM_018344 SLC29A3,SLC29A3,SLC29A3,SLC29A3 EXON Silent,Silent,Missense_V258I,Missense_V258I exm832200 10 73121779 [T/C] NR_033414,NR_033413,NM_001174098,NM_018344 SLC29A3,SLC29A3,SLC29A3,SLC29A3 EXON Silent,Silent,Silent,Missense_L300P exm832206 10 73121883 [T/G] NR_033414,NR_033413,NM_001174098,NM_018344 SLC29A3,SLC29A3,SLC29A3,SLC29A3 EXON Silent,Silent,Silent,Missense_F335V exm832209 10 73121913 [A/G] NR_033414,NR_033413,NM_001174098,NM_018344 SLC29A3,SLC29A3,SLC29A3,SLC29A3 EXON Silent,Silent,Silent,Missense_I345V exm832212 10 73121938 [A/G] NR_033414,NR_033413,NM_001174098,NM_018344 SLC29A3,SLC29A3,SLC29A3,SLC29A3 EXON Silent,Silent,Silent,Missense_N353S exm832225 10 73122139 [A/G] NR_033414,NR_033413,NM_001174098,NM_018344 SLC29A3,SLC29A3,SLC29A3,SLC29A3 EXON Silent,Silent,Silent,Missense_R420H exm2271310 10 73191336 [T/C] NM_001171930,NM_052836,NM_001171932,NM_001171931,NM_022124 CDH23,CDH23,CDH23,CDH23,CDH23 Silent,Silent,Silent,Silent,Silent exm832239 10 73199595 [T/C] NM_001171930,NM_052836,NM_001171932,NM_001171931,NM_022124 CDH23,CDH23,CDH23,CDH23,CDH23 EXON Missense_R3C,Missense_R3C,Missense_R3C,Missense_R3C,Missense_R3C exm832253 10 73269949 [A/G] NM_001171930,NM_052836,NM_001171932,NM_001171931,NM_022124 CDH23,CDH23,CDH23,CDH23,CDH23 EXON Missense_V86M,Missense_V86M,Missense_V86M,Missense_V86M,Missense_V86M exm832260 10 73270747 [A/G] NM_001171930,NM_052836,NM_001171932,NM_001171931,NM_022124 CDH23,CDH23,CDH23,CDH23,CDH23 EXON Missense_D109N,Missense_D109N,Missense_D109N,Missense_D109N,Missense_D109N exm832263 10 73270925 [A/G] NM_001171930,NM_052836,NM_001171932,NM_001171931,NM_022124 CDH23,CDH23,CDH23,CDH23,CDH23 EXON Missense_A129T,Missense_A129T,Missense_A129T,Missense_A129T,Missense_A129T exm832267 10 73270959 [A/G] NM_001171930,NM_052836,NM_001171932,NM_001171931,NM_022124 CDH23,CDH23,CDH23,CDH23,CDH23 EXON Missense_R140H,Missense_R140H,Missense_R140H,Missense_R140H,Missense_R140H exm832273 10 73326529 [A/G] NM_001171930,NM_052836,NM_001171932,NM_001171931,NM_022124 CDH23,CDH23,CDH23,CDH23,CDH23 EXON Missense_V154M,Missense_V154M,Missense_V154M,Missense_V154M,Missense_V154M exm832274 10 73326578 [C/G] NM_001171930,NM_052836,NM_001171932,NM_001171931,NM_022124 CDH23,CDH23,CDH23,CDH23,CDH23 EXON Missense_S170C,Missense_S170C,Missense_S170C,Missense_S170C,Missense_S170C exm832278 10 73326620 [A/G] NM_001171930,NM_052836,NM_001171932,NM_001171931,NM_022124 CDH23,CDH23,CDH23,CDH23,CDH23 EXON Missense_R184H,Missense_R184H,Missense_R184H,Missense_R184H,Missense_R184H exm832279 10 73326643 [G/C] NM_001171930,NM_052836,NM_001171932,NM_001171931,NM_022124 CDH23,CDH23,CDH23,CDH23,CDH23 EXON Missense_E192Q,Missense_E192Q,Missense_E192Q,Missense_E192Q,Missense_E192Q exm832299 10 73377077 [A/G] NM_001171930,NM_052836,NM_001171932,NM_001171931,NM_022124 CDH23,CDH23,CDH23,CDH23,CDH23 EXON Missense_S354N,Missense_S354N,Missense_S354N,Missense_S354N,Missense_S354N exm832304 10 73377112 [A/G] NM_001171930,NM_052836,NM_001171932,NM_001171931,NM_022124 CDH23,CDH23,CDH23,CDH23,CDH23 EXON Missense_A366T,Missense_A366T,Missense_A366T,Missense_A366T,Missense_A366T exm832305 10 73377172 [T/C] NM_001171930,NM_052836,NM_001171932,NM_001171931,NM_022124 CDH23,CDH23,CDH23,CDH23,CDH23 EXON Silent,Silent,Missense_P386S,Silent,Silent exm832319 10 73406226 [A/G] NM_001171930,NM_052836,NM_001171931,NM_022124 CDH23,CDH23,CDH23,CDH23 EXON Missense_N434S,Missense_N434S,Missense_N434S,Missense_N434S exm832320 10 73406232 [A/G] NM_001171930,NM_052836,NM_001171931,NM_022124 CDH23,CDH23,CDH23,CDH23 EXON Missense_S436N,Missense_S436N,Missense_S436N,Missense_S436N exm832323 10 73406348 [A/G] NM_001171930,NM_052836,NM_001171931,NM_022124 CDH23,CDH23,CDH23,CDH23 EXON Missense_V475M,Missense_V475M,Missense_V475M,Missense_V475M exm832329 10 73406450 [A/C] NM_001171930,NM_052836,NM_001171931,NM_022124 CDH23,CDH23,CDH23,CDH23 EXON Silent,Missense_P509T,Silent,Silent exm832333 10 73434888 [G/C] NM_001171930,NM_001171931,NM_022124 CDH23,CDH23,CDH23 EXON Missense_G490A,Missense_G490A,Missense_G490A exm832336 10 73434906 [A/G] NM_001171930,NM_001171931,NM_022124 CDH23,CDH23,CDH23 EXON Missense_S496N,Missense_S496N,Missense_S496N exm832338 10 73434923 [A/G] NM_001171930,NM_001171931,NM_022124 CDH23,CDH23,CDH23 EXON Missense_D502N,Missense_D502N,Missense_D502N exm832346 10 73437293 [T/C] NM_001171930,NM_001171931,NM_022124 CDH23,CDH23,CDH23 EXON Missense_T532M,Missense_T532M,Missense_T532M exm832349 10 73437335 [A/G] NM_001171930,NM_001171931,NM_022124 CDH23,CDH23,CDH23 EXON Missense_R546Q,Missense_R546Q,Missense_R546Q exm832358 10 73437443 [A/G] NM_001171930,NM_001171931,NM_022124 CDH23,CDH23,CDH23 EXON Missense_R582Q,Missense_R582Q,Missense_R582Q exm832367 10 73442262 [T/C] NM_001171930,NM_001171931,NM_022124 CDH23,CDH23,CDH23 EXON Missense_T640M,Missense_T640M,Missense_T640M exm832384 10 73453966 [T/C] NM_001171930,NM_001171931,NM_022124 CDH23,CDH23,CDH23 EXON Missense_R747C,Missense_R747C,Missense_R747C exm832387 10 73453990 [T/C] NM_001171930,NM_001171931,NM_022124 CDH23,CDH23,CDH23 EXON Missense_H755Y,Missense_H755Y,Missense_H755Y exm832390 10 73455215 [T/C] NM_001171930,NM_001171931,NM_022124 CDH23,CDH23,CDH23 EXON Missense_T777M,Missense_T777M,Missense_T777M exm832408 10 73462429 [T/C] NM_001171930,NM_001171931,NM_022124 CDH23,CDH23,CDH23 EXON Missense_P904L,Missense_P904L,Missense_P904L exm832417 10 73464764 [A/G] NM_001171930,NM_001171931,NM_022124 CDH23,CDH23,CDH23 EXON Missense_S944G,Missense_S944G,Missense_S944G exm832421 10 73464809 [A/G] NM_001171930,NM_001171931,NM_022124 CDH23,CDH23,CDH23 EXON Missense_A959T,Missense_A959T,Missense_A959T exm832422 10 73464812 [A/G] NM_001171930,NM_001171931,NM_022124 CDH23,CDH23,CDH23 EXON Missense_E960K,Missense_E960K,Missense_E960K exm832430 10 73466710 [A/G] NM_001171930,NM_001171931,NM_022124 CDH23,CDH23,CDH23 EXON Missense_V1004M,Missense_V1004M,Missense_V1004M exm832436 10 73466774 [A/G] NM_001171930,NM_001171931,NM_022124 CDH23,CDH23,CDH23 EXON Missense_G1025D,Missense_G1025D,Missense_G1025D exm832441 10 73468866 [T/G] NM_001171930,NM_022124 CDH23,CDH23 EXON Missense_D1040Y,Missense_D1040Y exm832446 10 73468926 [T/C] NM_001171930,NM_022124 CDH23,CDH23 EXON Missense_R1060W,Missense_R1060W exm832448 10 73472431 [T/C] NM_001171930,NM_022124,NM_001164375,NM_001168390 CDH23,CDH23,C10orf105,C10orf105 EXON Missense_P1077L,Missense_P1077L,Silent,Silent exm832452 10 73472463 [A/G] NM_001171930,NM_022124,NM_001164375,NM_001168390 CDH23,CDH23,C10orf105,C10orf105 EXON Missense_V1088M,Missense_V1088M,Silent,Silent exm832457 10 73472494 [A/G] NM_001171930,NM_022124,NM_001164375,NM_001168390 CDH23,CDH23,C10orf105,C10orf105 EXON Missense_N1098S,Missense_N1098S,Silent,Silent exm832458 10 73472502 [A/G] NM_001171930,NM_022124,NM_001164375,NM_001168390 CDH23,CDH23,C10orf105,C10orf105 EXON Missense_I1101V,Missense_I1101V,Silent,Silent exm832462 10 73472565 [T/G] NM_001171930,NM_022124,NM_001164375,NM_001168390 CDH23,CDH23,C10orf105,C10orf105 EXON Missense_L1122V,Missense_L1122V,Silent,Silent exm832473 10 73475748 [A/G] NM_001171930,NM_022124,NM_001164375,NM_001168390 CDH23,CDH23,C10orf105,C10orf105 EXON Silent,Silent,Missense_P116L,Missense_P116L exm832476 10 73475760 [T/C] NM_001171930,NM_022124,NM_001164375,NM_001168390 CDH23,CDH23,C10orf105,C10orf105 EXON Silent,Silent,Missense_R112Q,Missense_R112Q exm832483 10 73476019 [A/G] NM_001171930,NM_022124,NM_001164375,NM_001168390 CDH23,CDH23,C10orf105,C10orf105 EXON Silent,Silent,Missense_P26S,Missense_P26S exm832484 10 73476021 [A/G] NM_001171930,NM_022124,NM_001164375,NM_001168390 CDH23,CDH23,C10orf105,C10orf105 EXON Silent,Silent,Missense_T25I,Missense_T25I exm832488 10 73483829 [A/G] NM_001171930,NM_022124,NM_001168390 CDH23,CDH23,C10orf105 EXON Missense_E1133K,Missense_E1133K,Silent exm832490 10 73485178 [T/G] NM_001171930,NM_022124,NM_001168390 CDH23,CDH23,C10orf105 EXON Missense_M1160I,Missense_M1160I,Silent exm832493 10 73485206 [T/C] NM_001171930,NM_022124,NM_001168390 CDH23,CDH23,C10orf105 EXON Missense_R1170W,Missense_R1170W,Silent exm832498 10 73490265 [A/G] NM_001171930,NM_022124,NM_001168390 CDH23,CDH23,C10orf105 EXON Missense_V1207M,Missense_V1207M,Silent exm832499 10 73490271 [A/G] NM_001171930,NM_022124,NM_001168390 CDH23,CDH23,C10orf105 EXON Missense_T1209A,Missense_T1209A,Silent exm832500 10 73490310 [A/G] NM_001171930,NM_022124,NM_001168390 CDH23,CDH23,C10orf105 EXON Missense_A1222T,Missense_A1222T,Silent exm832510 10 73491873 [A/G] NM_001171930,NM_022124,NM_001168390 CDH23,CDH23,C10orf105 EXON Missense_N1282S,Missense_N1282S,Silent exm832515 10 73491923 [A/G] NM_001171930,NM_022124,NM_001168390 CDH23,CDH23,C10orf105 EXON Missense_V1299I,Missense_V1299I,Silent exm832519 10 73492014 [A/G] NM_001171930,NM_022124,NM_001168390 CDH23,CDH23,C10orf105 EXON Missense_G1329D,Missense_G1329D,Silent exm832523 10 73492073 [T/C] NM_001171930,NM_022124,NM_001168390 CDH23,CDH23,C10orf105 EXON Missense_R1349C,Missense_R1349C,Silent exm832526 10 73492079 [A/G] NM_001171930,NM_022124,NM_001168390 CDH23,CDH23,C10orf105 EXON Missense_N1351D,Missense_N1351D,Silent exm832552 10 73498355 [A/G] NM_022124 CDH23 EXON Missense_R1437Q exm832559 10 73499446 [A/G] NM_022124 CDH23 EXON Missense_I1469V exm832570 10 73500672 [A/G] NM_022124 CDH23 EXON Missense_E1528K exm832576 10 73501556 [A/G] NM_022124 CDH23 EXON Missense_A1575T exm832579 10 73501613 [T/C] NM_022124 CDH23 EXON Missense_R1594C exm832593 10 73511430 [A/G] NM_022124,NM_022153 CDH23,C10orf54 EXON Silent,Missense_S298F exm832595 10 73511484 [A/G] NM_022124,NM_022153 CDH23,C10orf54 EXON Silent,Missense_S280L exm832602 10 73511593 [T/C] NM_022124,NM_022153 CDH23,C10orf54 EXON Silent,Missense_G244S exm832603 10 73511604 [A/G] NM_022124,NM_022153 CDH23,C10orf54 EXON Silent,Missense_I240T exm832607 10 73512742 [A/G] NM_022124,NM_022153 CDH23,C10orf54 EXON Silent,Missense_R232W exm832612 10 73515155 [A/G] NM_022124,NM_022153 CDH23,C10orf54 EXON Silent,Missense_L213F exm832617 10 73515221 [T/C] NM_022124,NM_022153 CDH23,C10orf54 EXON Silent,Missense_I191V exm832620 10 73520632 [A/C] NM_022124,NM_022153 CDH23,C10orf54 EXON Silent,Missense_D187E exm832621 10 73520649 [A/G] NM_022124,NM_022153 CDH23,C10orf54 EXON Silent,Missense_P182S exm832633 10 73521519 [T/C] NM_022124,NM_022153 CDH23,C10orf54 EXON Silent,Missense_R116H exm832652 10 73521780 [A/G] NM_022124,NM_022153 CDH23,C10orf54 EXON Silent,Missense_P29L exm832654 10 73533124 [T/C] NM_022124,NM_022153 CDH23,C10orf54 EXON Silent,Missense_A25T exm832657 10 73533177 [A/G] NM_022124,NM_022153 CDH23,C10orf54 EXON Silent,Missense_L7P exm832660 10 73537449 [A/G] NM_022124 CDH23 EXON Missense_V1620M exm832661 10 73537455 [A/G] NM_022124 CDH23 EXON Missense_V1622M exm832669 10 73537614 [A/G] NM_022124 CDH23 EXON Missense_V1675I exm832671 10 73537629 [A/G] NM_022124 CDH23 EXON Missense_V1680I exm832673 10 73537641 [T/C] NM_022124 CDH23 EXON Missense_R1684C exm832691 10 73539073 [A/G] NM_022124 CDH23 EXON Missense_R1746Q exm832693 10 73539133 [T/C] NM_022124 CDH23 EXON Missense_F1766S exm832694 10 73539148 [A/G] NM_022124 CDH23 EXON Missense_R1771Q exm832697 10 73544086 [A/G] NM_022124 CDH23 EXON Missense_R1804Q exm832699 10 73544093 [C/G] NM_022124 CDH23 EXON Missense_D1806E exm832700 10 73544094 [A/G] NM_022124 CDH23 EXON Missense_V1807M exm832707 10 73544650 [A/G] NM_022124 CDH23 EXON Missense_M1835I exm832718 10 73544828 [T/C] NM_022124 CDH23 EXON Missense_R1895C exm832727 10 73545481 [T/C] NM_022124 CDH23 EXON Missense_R1936C exm832729 10 73548707 [T/C] NM_022124 CDH23 EXON Missense_L1944S exm832740 10 73550117 [C/G] NM_022124 CDH23 EXON Missense_T1999S exm832743 10 73550147 [T/A] NM_022124 CDH23 EXON Missense_L2009H exm832748 10 73550969 [A/G] NM_022124 CDH23 EXON Missense_E2044K exm832757 10 73552960 [T/C] NM_022124 CDH23 EXON Missense_T2092I exm832761 10 73553014 [T/C] NM_022124 CDH23 EXON Missense_A2110V exm832765 10 73553062 [A/G] NM_022124 CDH23 EXON Missense_R2126H exm832780 10 73553281 [T/A] NM_022124 CDH23 EXON Missense_I2199N exm832788 10 73556957 [A/G] NM_022124,NM_001171933,NM_001171934 CDH23,CDH23,CDH23 EXON Missense_R2270H,Missense_R30H,Missense_R30H exm832791 10 73558128 [A/G] NM_022124,NM_001171933,NM_001171934 CDH23,CDH23,CDH23 EXON Missense_V2283I,Missense_V43I,Missense_V43I exm2249347 10 73558133 [C/G] NM_022124,NM_001171933,NM_001171934 CDH23,CDH23,CDH23 EXON Synonymous_L2284L,Synonymous_L44L,Synonymous_L44L exm832795 10 73558192 [A/G] NM_022124,NM_001171933,NM_001171934 CDH23,CDH23,CDH23 EXON Missense_R2304Q,Missense_R64Q,Missense_R64Q exm832804 10 73558886 [A/G] NM_022124,NM_001171933,NM_001171934 CDH23,CDH23,CDH23 EXON Missense_R2358Q,Missense_R118Q,Missense_R118Q exm832808 10 73558952 [T/C] NM_022124,NM_001171933,NM_001171934 CDH23,CDH23,CDH23 EXON Missense_P2380L,Missense_P140L,Missense_P140L exm832812 10 73559319 [A/G] NM_022124,NM_001171933,NM_001171934 CDH23,CDH23,CDH23 EXON Missense_G2432D,Missense_G192D,Missense_G192D exm832814 10 73560424 [A/G] NM_022124,NM_001171933,NM_001171934 CDH23,CDH23,CDH23 EXON Missense_R2465Q,Missense_R225Q,Missense_R225Q exm832817 10 73560493 [A/G] NM_022124,NM_001171933,NM_001171934 CDH23,CDH23,CDH23 EXON Missense_R2488H,Missense_R248H,Missense_R248H exm2249348 10 73560497 [T/C] NM_022124,NM_001171933,NM_001171934 CDH23,CDH23,CDH23 EXON Synonymous_R2489R,Synonymous_R249R,Synonymous_R249R exm832831 10 73563067 [C/G] NM_022124,NM_001171933,NM_001171934 CDH23,CDH23,CDH23 EXON Missense_E2588Q,Missense_E348Q,Missense_E348Q exm2276973 10 73563074 [G/C] NM_022124,NM_001171933,NM_001171934 CDH23,CDH23,CDH23 EXON Missense_P2590R,Missense_P350R,Missense_P350R exm832833 10 73563128 [A/G] NM_022124,NM_001171933,NM_001171934 CDH23,CDH23,CDH23 EXON Missense_R2608H,Missense_R368H,Missense_R368H exm832847 10 73566027 [G/C] NM_022124,NM_001171933,NM_001171934 CDH23,CDH23,CDH23 EXON Missense_V2723L,Missense_V483L,Missense_V483L exm832858 10 73567275 [A/G] NM_022124,NM_001171933,NM_001171934 CDH23,CDH23,CDH23 EXON Missense_G2771S,Missense_G531S,Missense_G531S exm832861 10 73567308 [A/G] NM_022124,NM_001171933,NM_001171934 CDH23,CDH23,CDH23 EXON Missense_D2782N,Missense_D542N,Missense_D542N exm832919 10 73571718 [A/G] NM_022124,NM_001171933,NM_001171934,NM_001171935,NM_001171936 CDH23,CDH23,CDH23,CDH23,CDH23 EXON Missense_R3109H,Missense_R869H,Missense_R869H,Silent,Silent exm832920 10 73571727 [T/C] NM_022124,NM_001171933,NM_001171934,NM_001171935,NM_001171936 CDH23,CDH23,CDH23,CDH23,CDH23 EXON Missense_I3112T,Missense_I872T,Missense_I872T,Silent,Silent exm832921 10 73571765 [T/C] NM_022124,NM_001171933,NM_001171934,NM_001171935,NM_001171936 CDH23,CDH23,CDH23,CDH23,CDH23 EXON Missense_F3125L,Missense_F885L,Missense_F885L,Silent,Silent exm2249349 10 73572294 [A/G] NM_022124,NM_001171933,NM_001171934,NM_001171935,NM_001171936 CDH23,CDH23,CDH23,CDH23,CDH23 EXON Synonymous_A3146A,Synonymous_A906A,Synonymous_A906A,Synonymous_A43A,Synonymous_A43A exm832932 10 73572538 [A/G] NM_022124,NM_001171933,NM_001171934,NM_001171935,NM_001171936 CDH23,CDH23,CDH23,CDH23,CDH23 EXON Missense_R3175H,Missense_R935H,Missense_R935H,Missense_R72H,Missense_R72H exm1684327 10 73572583 [T/C] NM_022124,NM_001171933,NM_001171934,NM_001171935,NM_001171936 CDH23,CDH23,CDH23,CDH23,CDH23 EXON Missense_A3190V,Missense_A950V,Missense_A950V,Missense_A87V,Missense_A87V exm832936 10 73572643 [T/C] NM_022124,NM_001171933,NM_001171934,NM_001171935,NM_001171936 CDH23,CDH23,CDH23,CDH23,CDH23 EXON Missense_I3210T,Missense_I970T,Missense_I970T,Missense_I107T,Missense_I107T exm832937 10 73573037 [T/C] NM_022124,NM_001171933,NM_001171934,NM_001171935,NM_001171936 CDH23,CDH23,CDH23,CDH23,CDH23 EXON Missense_R3224W,Missense_R984W,Silent,Missense_R121W,Silent exm832939 10 73573082 [T/C] NM_022124,NM_001171933,NM_001171934,NM_001171935,NM_001171936 CDH23,CDH23,CDH23,CDH23,CDH23 EXON Missense_S3239P,Missense_S999P,Silent,Missense_S136P,Silent exm832941 10 73574728 [A/C] NM_022124,NM_001171933,NM_001171934,NM_001171935,NM_001171936 CDH23,CDH23,CDH23,CDH23,CDH23 EXON Missense_D3253A,Missense_D1013A,Missense_D978A,Missense_D150A,Missense_D115A exm1684330 10 73574769 [T/C] NM_022124,NM_001171933,NM_001171934,NM_001171935,NM_001171936 CDH23,CDH23,CDH23,CDH23,CDH23 EXON Missense_R3267C,Missense_R1027C,Missense_R992C,Missense_R164C,Missense_R129C exm832955 10 73574898 [T/C] NM_022124,NM_001171933,NM_001171934,NM_001171935,NM_001171936 CDH23,CDH23,CDH23,CDH23,CDH23 EXON Missense_R3310C,Missense_R1070C,Missense_R1035C,Missense_R207C,Missense_R172C exm832961 10 73574949 [A/G] NM_022124,NM_001171933,NM_001171934,NM_001171935,NM_001171936 CDH23,CDH23,CDH23,CDH23,CDH23 EXON Missense_A3327T,Missense_A1087T,Missense_A1052T,Missense_A224T,Missense_A189T exm832976 10 73578394 [G/C] NM_001042466,NM_001042465,NM_002778 PSAP,PSAP,PSAP EXON Missense_E509Q,Missense_E510Q,Missense_E507Q exm2249350 10 73578461 [T/C] NM_001042466,NM_001042465,NM_002778 PSAP,PSAP,PSAP EXON Synonymous_S486S,Synonymous_S487S,Synonymous_S484S exm832987 10 73578838 [T/C] NM_001042466,NM_001042465,NM_002778 PSAP,PSAP,PSAP EXON Missense_V463M,Missense_V464M,Missense_V461M exm833011 10 73579575 [A/G] NM_001042466,NM_001042465,NM_002778 PSAP,PSAP,PSAP EXON Missense_T365M,Missense_T366M,Missense_T363M exm833013 10 73579614 [A/G] NM_001042466,NM_001042465,NM_002778 PSAP,PSAP,PSAP EXON Missense_P352L,Missense_P353L,Missense_P350L exm833045 10 73587854 [A/G] NM_001042466,NM_001042465,NM_002778 PSAP,PSAP,PSAP EXON Missense_R213W,Missense_R213W,Missense_R213W exm833049 10 73587913 [T/C] NM_001042466,NM_001042465,NM_002778 PSAP,PSAP,PSAP EXON Missense_D193G,Missense_D193G,Missense_D193G exm833051 10 73588640 [A/C] NM_001042466,NM_001042465,NM_002778 PSAP,PSAP,PSAP EXON Missense_Q190H,Missense_Q190H,Missense_Q190H exm833052 10 73588653 [T/C] NM_001042466,NM_001042465,NM_002778 PSAP,PSAP,PSAP EXON Missense_R186H,Missense_R186H,Missense_R186H exm2271311 10 73589418 [T/C] NM_001042466,NM_001042465,NM_002778 PSAP,PSAP,PSAP Silent,Silent,Silent exm833077 10 73610963 [A/G] NM_001042466,NM_001042465,NM_002778 PSAP,PSAP,PSAP EXON Missense_L6F,Missense_L6F,Missense_L6F exm2217430 10 73610974 [T/C] NM_001042466,NM_001042465,NM_002778 PSAP,PSAP,PSAP EXON Missense_Y2C,Missense_Y2C,Missense_Y2C exm833082 10 73765607 [A/G] NM_004273 CHST3 EXON Missense_K3E exm833083 10 73765634 [T/C] NM_004273 CHST3 EXON Missense_R12W exm833102 10 73767137 [T/G] NM_004273 CHST3 EXON Missense_E116D exm833108 10 73767254 [C/G] NM_004273 CHST3 EXON Missense_Q155H exm833132 10 73767748 [C/G] NM_004273 CHST3 EXON Missense_T320S exm833139 10 73767949 [A/G] NM_004273 CHST3 EXON Missense_R387H exm833155 10 73822556 [T/C] NM_001244950,NM_014767 SPOCK2,SPOCK2 EXON Missense_E413K,Missense_E413K exm833165 10 73822645 [A/G] NM_001244950,NM_014767 SPOCK2,SPOCK2 EXON Missense_S383L,Missense_S383L exm833170 10 73822855 [T/C] NM_001244950,NM_014767 SPOCK2,SPOCK2 EXON Missense_G353S,Missense_G353S exm833178 10 73826711 [T/C] NM_001244950,NM_014767 SPOCK2,SPOCK2 EXON Missense_K293E,Missense_K293E exm833182 10 73826776 [A/G] NM_001244950,NM_014767 SPOCK2,SPOCK2 EXON Missense_A271V,Missense_A271V exm833183 10 73826785 [A/G] NM_001244950,NM_014767 SPOCK2,SPOCK2 EXON Missense_T268M,Missense_T268M exm833186 10 73826849 [T/C] NM_001244950,NM_014767 SPOCK2,SPOCK2 EXON Missense_K247E,Missense_K247E exm833188 10 73827371 [T/C] NM_001244950,NM_014767 SPOCK2,SPOCK2 EXON Missense_G237R,Missense_G237R exm833190 10 73827379 [A/G] NM_001244950,NM_014767 SPOCK2,SPOCK2 EXON Missense_P234L,Missense_P234L exm833191 10 73827383 [T/C] NM_001244950,NM_014767 SPOCK2,SPOCK2 EXON Missense_G233S,Missense_G233S exm833195 10 73827451 [T/C] NM_001244950,NM_014767 SPOCK2,SPOCK2 EXON Missense_R210Q,Missense_R210Q exm833208 10 73830173 [A/G] NM_001244950,NM_014767 SPOCK2,SPOCK2 EXON Missense_P124L,Missense_P124L exm833209 10 73831906 [A/G] NM_001244950,NM_014767 SPOCK2,SPOCK2 EXON Missense_H119Y,Missense_H119Y exm833211 10 73831931 [T/C] NM_001244950,NM_014767 SPOCK2,SPOCK2 EXON Missense_M110I,Missense_M110I exm833213 10 73831956 [A/G] NM_001244950,NM_014767 SPOCK2,SPOCK2 EXON Missense_I102T,Missense_I102T exm833224 10 73846743 [A/G] NM_001244950,NM_014767,NM_001134434 SPOCK2,SPOCK2,SPOCK2 EXON Silent,Silent,Missense_S66L exm833229 10 73847988 [G/C] NM_001244950,NM_014767,NM_001134434 SPOCK2,SPOCK2,SPOCK2 EXON Missense_E33D,Missense_E33D,Missense_E33D exm833231 10 73848016 [T/C] NM_001244950,NM_014767,NM_001134434 SPOCK2,SPOCK2,SPOCK2 EXON Missense_G24D,Missense_G24D,Missense_G24D exm2249353 10 73848075 [T/C] NM_001244950,NM_014767,NM_001134434 SPOCK2,SPOCK2,SPOCK2 EXON Synonymous_P4P,Synonymous_P4P,Synonymous_P4P exm-rs1245541 10 73849639 [A/G] exm833247 10 73857186 [A/C] NM_001198798,NM_001198800,NM_001198799,NR_045564 ASCC1,ASCC1,ASCC1,ASCC1 EXON Missense_G327V,Missense_G327V,Silent,Silent exm833251 10 73887886 [T/C] NM_001198798,NM_001198800,NM_001198799,NR_045564 ASCC1,ASCC1,ASCC1,ASCC1 EXON Missense_Y304C,Missense_Y304C,Missense_Y332C,Silent exm833253 10 73887894 [T/A] NM_001198798,NM_001198800,NM_001198799,NR_045564 ASCC1,ASCC1,ASCC1,ASCC1 EXON Missense_E301D,Missense_E301D,Missense_E329D,Silent exm2267107 10 73888394 [A/G] NM_001198798,NM_001198800,NM_001198799,NR_045564 ASCC1,ASCC1,ASCC1,ASCC1 Silent,Silent,Silent,Silent exm833256 10 73892817 [T/C] NM_001198798,NM_001198800,NM_001198799,NR_045564 ASCC1,ASCC1,ASCC1,ASCC1 EXON Missense_N290S,Missense_N290S,Missense_N318S,Silent exm2249354 10 73892920 [T/G] NM_001198798,NM_001198800,NM_001198799,NR_045564 ASCC1,ASCC1,ASCC1,ASCC1 EXON Synonymous_R256R,Synonymous_R256R,Synonymous_R284R,Silent exm833259 10 73892939 [A/C] NM_001198798,NM_001198800,NM_001198799,NR_045564 ASCC1,ASCC1,ASCC1,ASCC1 EXON Missense_R249S,Missense_R249S,Missense_R277S,Silent exm833263 10 73921351 [C/G] NM_001198798,NM_001198800,NM_001198799,NR_045564 ASCC1,ASCC1,ASCC1,ASCC1 EXON Missense_E191Q,Missense_E191Q,Missense_E219Q,Silent exm833280 10 73964243 [C/G] NM_001198798,NM_001198800,NM_001198799,NR_045564 ASCC1,ASCC1,ASCC1,ASCC1 EXON Silent,Silent,Nonsense_S78X,Silent exm833282 10 73970502 [G/C] NM_001198798,NM_001198800,NM_001198799,NR_045564 ASCC1,ASCC1,ASCC1,ASCC1 EXON Missense_S67T,Missense_S67T,Missense_S67T,Silent exm833284 10 73972950 [T/C] NM_001198798,NM_001198800,NM_001198799,NR_045564 ASCC1,ASCC1,ASCC1,ASCC1 EXON Missense_Y36C,Missense_Y36C,Missense_Y36C,Silent exm833285 10 73972957 [T/C] NM_001198798,NM_001198800,NM_001198799,NR_045564 ASCC1,ASCC1,ASCC1,ASCC1 EXON Missense_D34N,Missense_D34N,Missense_D34N,Silent exm833291 10 73973049 [A/G] NM_001198798,NM_001198800,NM_001198799,NR_045564 ASCC1,ASCC1,ASCC1,ASCC1 EXON Missense_V3A,Missense_V3A,Missense_V3A,Silent exm2217433 10 73975593 [T/C] NM_001198798,NM_001198800,NM_001198799,NR_045564 ASCC1,ASCC1,ASCC1,ASCC1 Silent,Silent,Silent,Silent exm833313 10 73992774 [A/G] NM_001242548,NM_173473,NR_038391,NR_038392,NM_001242546,NM_001242547 ANAPC16,ANAPC16,ANAPC16,ANAPC16,ANAPC16,ANAPC16 EXON Missense_R53Q,Missense_R78Q,Silent,Silent,Missense_R78Q,Missense_R78Q exm833317 10 73992862 [G/C] NM_001242548,NM_173473,NR_038391,NR_038392,NM_001242546,NM_001242547 ANAPC16,ANAPC16,ANAPC16,ANAPC16,ANAPC16,ANAPC16 EXON Synonymous_P82P,Synonymous_P107P,Silent,Silent,Synonymous_P107P,Synonymous_P107P exm833329 10 74034096 [A/G] NM_019058 DDIT4 EXON Missense_E41G exm833342 10 74034579 [T/C] NM_019058 DDIT4 EXON Missense_S111F exm833346 10 74034604 [T/G] NM_019058 DDIT4 EXON Missense_M119I exm833351 10 74034828 [C/G] NM_019058 DDIT4 EXON Missense_S194T exm833363 10 74096378 [T/C] NM_017626,NM_001002762 DNAJB12,DNAJB12 EXON Missense_E338K,Missense_E338K exm833379 10 74100599 [C/G] NM_017626,NM_001002762 DNAJB12,DNAJB12 EXON Missense_R258P,Missense_R258P exm833381 10 74100615 [T/C] NM_017626,NM_001002762 DNAJB12,DNAJB12 EXON Missense_V253I,Missense_V253I exm833391 10 74100811 [T/C] NM_017626,NM_001002762 DNAJB12,DNAJB12 EXON Missense_R226H,Missense_R226H exm833393 10 74100836 [T/C] NM_017626,NM_001002762 DNAJB12,DNAJB12 EXON Missense_G218S,Missense_G218S exm833396 10 74100847 [A/G] NM_017626,NM_001002762 DNAJB12,DNAJB12 EXON Missense_A214V,Missense_A214V exm833397 10 74100863 [T/C] NM_017626,NM_001002762 DNAJB12,DNAJB12 EXON Missense_D209N,Missense_D209N exm833405 10 74104771 [T/C] NM_017626,NM_001002762 DNAJB12,DNAJB12 EXON Missense_N117S,Missense_N117S exm833411 10 74104849 [A/G] NM_017626,NM_001002762 DNAJB12,DNAJB12 EXON Missense_A91V,Missense_A91V exm833416 10 74114635 [T/A] NM_017626,NM_001002762 DNAJB12,DNAJB12 EXON Missense_E41D,Missense_E41D exm833419 10 74114684 [C/G] NM_017626,NM_001002762 DNAJB12,DNAJB12 EXON Missense_P25R,Missense_P25R exm833438 10 74235033 [A/T] NR_031657,NM_001195519,NM_006077,NM_001195518 MIR1256,MICU1,MICU1,MICU1 EXON Silent,Missense_Q55L,Missense_Q255L,Missense_Q253L exm833449 10 74311046 [G/C] NR_031657,NM_006077,NM_001195518 MIR1256,MICU1,MICU1 EXON Silent,Missense_F128L,Missense_F128L exm833454 10 74322676 [A/G] NR_031657,NM_006077,NM_001195518 MIR1256,MICU1,MICU1 EXON Silent,Missense_R103C,Missense_R103C exm833462 10 74326475 [C/G] NR_031657,NM_006077,NM_001195518 MIR1256,MICU1,MICU1 EXON Silent,Missense_P26R,Missense_P26R exm833469 10 74451914 [T/C] NR_073062,NM_138357,NM_001270679 MCU,MCU,MCU EXON Silent,Missense_A2V,Missense_A2V exm833482 10 74594183 [G/C] NR_073062,NM_138357,NM_001270679,NM_001270680 MCU,MCU,MCU,MCU EXON Silent,Missense_D73H,Missense_D73H,Missense_D24H exm833483 10 74618937 [A/G] NR_073062,NM_138357,NM_001270679,NM_001270680 MCU,MCU,MCU,MCU EXON Silent,Missense_V75I,Missense_V75I,Missense_V26I exm833501 10 74631139 [A/G] NR_073062,NM_138357,NM_001270679,NM_001270680 MCU,MCU,MCU,MCU EXON Silent,Missense_R221Q,Missense_R200Q,Missense_R172Q exm2259631 10 74637326 [T/C] NR_073062,NM_138357,NM_001270679,NM_001270680 MCU,MCU,MCU,MCU Silent,Silent,Silent,Silent exm1684530 10 74658691 [A/C] NM_152635 OIT3 EXON Missense_N111H exm833531 10 74658710 [A/C] NM_152635 OIT3 EXON Missense_T117N exm833539 10 74660163 [A/C] NM_152635 OIT3 EXON Nonsense_C155X exm833548 10 74666444 [A/G] NM_152635 OIT3 EXON Missense_R212H exm833551 10 74671476 [T/C] NM_152635 OIT3 EXON Synonymous_D223D exm833553 10 74671516 [T/C] NM_152635 OIT3 EXON Missense_S237P exm833554 10 74671546 [T/C] NM_152635 OIT3 EXON Missense_C247R exm1684539 10 74684093 [T/C] NM_152635 OIT3 EXON Missense_P353L exm833576 10 74684148 [A/C] NM_152635 OIT3 EXON Missense_N371K exm833577 10 74684180 [A/G] NM_152635 OIT3 EXON Missense_R382Q exm833600 10 74692242 [T/C] NM_152635 OIT3 EXON Missense_T533M exm2249358 10 74692258 [A/G] NM_152635 OIT3 EXON Synonymous_P538P exm833658 10 74804782 [T/C] NM_001017962,NM_001142595,NM_000917,NM_001142596 P4HA1,P4HA1,P4HA1,P4HA1 EXON Missense_I369V,Missense_I369V,Silent,Silent exm833659 10 74804803 [A/G] NM_001017962,NM_001142595,NM_000917,NM_001142596 P4HA1,P4HA1,P4HA1,P4HA1 EXON Nonsense_R362X,Nonsense_R362X,Silent,Silent exm833664 10 74806823 [A/G] NM_001017962,NM_001142595,NM_000917,NM_001142596 P4HA1,P4HA1,P4HA1,P4HA1 EXON Missense_H313Y,Missense_H313Y,Missense_H313Y,Missense_H313Y exm833674 10 74813177 [T/C] NM_001017962,NM_001142595,NM_000917,NM_001142596 P4HA1,P4HA1,P4HA1,P4HA1 EXON Missense_S212N,Missense_S212N,Missense_S212N,Missense_S212N exm833680 10 74828696 [A/T] NM_001017962,NM_001142595,NM_000917,NM_001142596 P4HA1,P4HA1,P4HA1,P4HA1 EXON Missense_D124V,Missense_D124V,Missense_D124V,Missense_D124V exm833684 10 74828736 [T/C] NM_001017962,NM_001142595,NM_000917,NM_001142596 P4HA1,P4HA1,P4HA1,P4HA1 EXON Missense_I111V,Missense_I111V,Missense_I111V,Missense_I111V exm833714 10 74874187 [A/G] NM_015901 NUDT13 EXON Missense_T22A exm833715 10 74874194 [T/C] NM_015901 NUDT13 EXON Missense_V24A exm833716 10 74874205 [C/G] NM_015901 NUDT13 EXON Missense_R28G exm833718 10 74879835 [T/C] NM_015901 NUDT13 EXON Missense_A48V exm833725 10 74881951 [A/G] NM_015901 NUDT13 EXON Missense_G81D exm833728 10 74882044 [T/G] NM_015901 NUDT13 EXON Missense_L112R exm833737 10 74884077 [T/C] NM_015901 NUDT13 EXON Missense_T155M exm833738 10 74884078 [A/G] NM_015901 NUDT13 EXON Synonymous_T155T exm833740 10 74884891 [T/C] NM_015901 NUDT13 EXON Missense_R161C exm833741 10 74884892 [A/G] NM_015901 NUDT13 EXON Missense_R161H exm833744 10 74884937 [T/C] NM_015901 NUDT13 EXON Missense_T176I exm833749 10 74885195 [T/C] NM_015901 NUDT13 EXON Nonsense_R211X exm833750 10 74885196 [A/G] NM_015901 NUDT13 EXON Missense_R211Q exm833753 10 74885235 [T/G] NM_015901 NUDT13 EXON Missense_M224R exm833754 10 74885268 [A/G] NM_015901 NUDT13 Silent exm833760 10 74886517 [T/C] NM_015901 NUDT13 EXON Missense_H264Y exm833761 10 74886544 [A/G] NM_015901 NUDT13 EXON Missense_M273V exm833763 10 74886563 [T/C] NM_015901 NUDT13 EXON Missense_T279I exm-IND10-74560589 10 74890584 [D/I] NM_015901 NUDT13 EXON exm833767 10 74890603 [T/C] NM_015901 NUDT13 EXON Missense_S334F exm833774 10 74894375 [T/C] NM_001135753,NM_001135752,NR_024203,NM_007265 ECD,ECD,ECD,ECD EXON Missense_D591G,Missense_D667G,Silent,Missense_D634G exm2217442 10 74894484 [C/G] NM_001135753,NM_001135752,NR_024203,NM_007265 ECD,ECD,ECD,ECD EXON Missense_L555V,Missense_L631V,Silent,Missense_L598V exm833781 10 74894526 [A/C] NM_001135753,NM_001135752,NR_024203,NM_007265 ECD,ECD,ECD,ECD EXON Missense_S541A,Missense_S617A,Silent,Missense_S584A exm833782 10 74894550 [T/C] NM_001135753,NM_001135752,NR_024203,NM_007265 ECD,ECD,ECD,ECD EXON Missense_D533N,Missense_D609N,Silent,Missense_D576N exm833788 10 74896547 [A/T] NM_001135753,NM_001135752,NR_024203,NM_007265 ECD,ECD,ECD,ECD EXON Missense_D497V,Missense_D573V,Silent,Missense_D540V exm833792 10 74896577 [T/C] NM_001135753,NM_001135752,NR_024203,NM_007265 ECD,ECD,ECD,ECD EXON Missense_G487D,Missense_G563D,Silent,Missense_G530D exm833793 10 74896655 [T/G] NM_001135753,NM_001135752,NR_024203,NM_007265 ECD,ECD,ECD,ECD EXON Missense_D461A,Missense_D537A,Silent,Missense_D504A exm833794 10 74896664 [T/C] NM_001135753,NM_001135752,NR_024203,NM_007265 ECD,ECD,ECD,ECD EXON Missense_N458S,Missense_N534S,Silent,Missense_N501S exm2217443 10 74897778 [T/C] NM_001135753,NM_001135752,NR_024203,NM_007265 ECD,ECD,ECD,ECD EXON Missense_Y448C,Missense_Y524C,Silent,Missense_Y491C exm833801 10 74897827 [T/C] NM_001135753,NM_001135752,NR_024203,NM_007265 ECD,ECD,ECD,ECD EXON Missense_E432K,Missense_E508K,Silent,Missense_E475K exm833807 10 74899134 [C/G] NM_001135753,NM_001135752,NR_024203,NM_007265 ECD,ECD,ECD,ECD EXON Missense_E409Q,Missense_E485Q,Silent,Missense_E452Q exm833815 10 74899395 [T/C] NM_001135753,NM_001135752,NR_024203,NM_007265 ECD,ECD,ECD,ECD EXON Missense_E367K,Missense_E443K,Silent,Missense_E410K exm1684614 10 74899468 [A/T] NM_001135753,NM_001135752,NR_024203,NM_007265 ECD,ECD,ECD,ECD EXON Missense_E342D,Missense_E418D,Silent,Missense_E385D exm833823 10 74906034 [A/C] NM_001135753,NM_001135752,NR_024203,NM_007265 ECD,ECD,ECD,ECD EXON Missense_S333I,Missense_R376M,Silent,Missense_S376I exm833825 10 74906091 [T/C] NM_001135753,NM_001135752,NR_024203,NM_007265 ECD,ECD,ECD,ECD EXON Missense_R314Q,Missense_R357Q,Silent,Missense_R357Q exm833830 10 74908089 [A/G] NM_001135753,NM_001135752,NR_024203,NM_007265 ECD,ECD,ECD,ECD EXON Missense_A286V,Missense_A329V,Silent,Missense_A329V exm833833 10 74912070 [T/C] NM_001135753,NM_001135752,NR_024203,NM_007265 ECD,ECD,ECD,ECD EXON Silent,Missense_H298R,Silent,Missense_H298R exm833855 10 74916049 [T/C] NM_001135753,NM_001135752,NR_024203,NM_007265 ECD,ECD,ECD,ECD EXON Missense_N192D,Missense_N192D,Silent,Missense_N192D exm833859 10 74916162 [A/G] NM_001135753,NM_001135752,NR_024203,NM_007265 ECD,ECD,ECD,ECD EXON Missense_S154F,Missense_S154F,Silent,Missense_S154F exm833862 10 74916406 [A/C] NM_001135753,NM_001135752,NR_024203,NM_007265 ECD,ECD,ECD,ECD EXON Missense_D111Y,Missense_D111Y,Silent,Missense_D111Y exm833870 10 74923562 [T/C] NM_001135753,NM_001135752,NR_024203,NM_007265 ECD,ECD,ECD,ECD EXON Missense_R45Q,Missense_R45Q,Silent,Missense_R45Q exm1684633 10 74923670 [A/G] NM_001135753,NM_001135752,NR_024203,NM_007265 ECD,ECD,ECD,ECD EXON Missense_T9M,Missense_T9M,Silent,Missense_T9M exm833885 10 74990272 [C/G] NM_173348 FAM149B1 EXON Missense_M372I exm833886 10 74992758 [T/G] NM_173348 FAM149B1 EXON Missense_W397G exm2217452 10 74994639 [T/C] NM_173348 FAM149B1 EXON Missense_P473S exm2274419 10 74999077 [A/C] NM_173348 FAM149B1 EXON Missense_T537K exm833922 10 75003627 [T/C] NM_015190 DNAJC9 EXON Missense_V213M exm833935 10 75005894 [T/C] NM_015190 DNAJC9 EXON Missense_K121R exm833936 10 75005901 [T/C] NM_015190 DNAJC9 EXON Missense_T119A exm833958 10 75010635 [G/C] NR_038373,NM_016065 DNAJC9-AS1,MRPS16 EXON Silent,Missense_T130R exm833961 10 75010692 [T/C] NR_038373,NM_016065 DNAJC9-AS1,MRPS16 EXON Silent,Missense_R111Q exm833967 10 75011557 [T/C] NR_038373,NM_016065 DNAJC9-AS1,MRPS16 EXON Silent,Missense_G80R exm833973 10 75011683 [T/G] NR_038373,NM_016065 DNAJC9-AS1,MRPS16 EXON Silent,Missense_H38N exm833979 10 75011761 [A/G] NR_038373,NM_016065 DNAJC9-AS1,MRPS16 EXON Silent,Missense_Y12H exm833997 10 75032735 [T/C] NR_038373,NM_145170 DNAJC9-AS1,TTC18 EXON Silent,Missense_R1029K exm2217454 10 75032742 [A/T] NR_038373,NM_145170 DNAJC9-AS1,TTC18 EXON Silent,Missense_C1027S exm834002 10 75034274 [A/G] NR_038373,NM_145170 DNAJC9-AS1,TTC18 EXON Silent,Nonsense_R988X exm834005 10 75035257 [T/C] NR_038373,NM_145170 DNAJC9-AS1,TTC18 EXON Silent,Missense_N944D exm2217457 10 75035308 [A/G] NR_038373,NM_145170 DNAJC9-AS1,TTC18 EXON Silent,Missense_P927S exm834013 10 75037991 [T/C] NM_145170 TTC18 EXON Missense_S852G exm834014 10 75037999 [A/C] NM_145170 TTC18 EXON Missense_W849L exm834016 10 75038041 [T/A] NM_145170 TTC18 EXON Missense_L835Q exm834018 10 75038063 [A/C] NM_145170 TTC18 EXON Missense_F828V exm834021 10 75050999 [T/C] NM_145170 TTC18 EXON Missense_V812M exm834032 10 75051169 [T/C] NM_145170 TTC18 EXON Missense_R755Q exm834037 10 75051708 [A/G] NM_145170 TTC18 EXON Missense_T682I exm2217459 10 75058712 [G/C] NM_145170 TTC18 EXON Missense_E559Q exm1684695 10 75058830 [A/C] NM_145170 TTC18 EXON Missense_K519N exm834067 10 75071618 [A/G] NM_145170 TTC18 EXON Missense_P450S exm834068 10 75071636 [T/G] NM_145170 TTC18 EXON Missense_P444T exm834071 10 75072233 [T/C] NM_145170 TTC18 EXON Missense_V431M exm834079 10 75090963 [A/G] NM_145170 TTC18 EXON Missense_P320L exm834106 10 75113313 [C/G] NM_145170 TTC18 Silent exm834108 10 75113362 [A/G] NM_145170 TTC18 EXON Missense_P68S exm834116 10 75135885 [A/G] NM_004034,NM_001156 ANXA7,ANXA7 EXON Nonsense_R479X,Nonsense_R457X exm834117 10 75135891 [C/G] NM_004034,NM_001156 ANXA7,ANXA7 EXON Missense_D477H,Missense_D455H exm834118 10 75135899 [A/G] NM_004034,NM_001156 ANXA7,ANXA7 EXON Missense_T474M,Missense_T452M exm834121 10 75135945 [T/C] NM_004034,NM_001156 ANXA7,ANXA7 EXON Missense_A459T,Missense_A437T exm2249361 10 75135964 [T/C] NM_004034,NM_001156 ANXA7,ANXA7 EXON Synonymous_V452V,Synonymous_V430V exm834123 10 75135964 [T/C] NM_004034,NM_001156 ANXA7,ANXA7 EXON Synonymous_V452V,Synonymous_V430V exm834124 10 75138691 [T/C] NM_004034,NM_001156 ANXA7,ANXA7 EXON Missense_R441Q,Missense_R419Q exm834130 10 75139789 [T/C] NM_004034,NM_001156 ANXA7,ANXA7 EXON Synonymous_R385R,Synonymous_R363R exm834136 10 75139901 [T/C] NM_004034,NM_001156 ANXA7,ANXA7 EXON Missense_R348H,Missense_R326H exm834141 10 75139961 [T/C] NM_004034,NM_001156 ANXA7,ANXA7 Silent,Silent exm834145 10 75142989 [A/C] NM_004034,NM_001156 ANXA7,ANXA7 EXON Missense_D310Y,Missense_D288Y exm834149 10 75143069 [A/G] NM_004034,NM_001156 ANXA7,ANXA7 EXON Missense_I283T,Missense_I261T exm834155 10 75147454 [T/C] NM_004034,NM_001156 ANXA7,ANXA7 EXON Missense_Y231C,Missense_Y209C exm834159 10 75148080 [T/C] NM_004034,NM_001156 ANXA7,ANXA7 EXON Missense_M198I,Missense_M176I exm834160 10 75148090 [A/C] NM_004034,NM_001156 ANXA7,ANXA7 EXON Missense_R195L,Missense_R173L exm1684755 10 75148118 [T/C] NM_004034,NM_001156 ANXA7,ANXA7 EXON Missense_D186N,Missense_D164N exm834167 10 75155825 [T/C] NM_004034,NM_001156 ANXA7,ANXA7 EXON Missense_V160I,Silent exm834170 10 75156284 [T/G] NM_004034,NM_001156 ANXA7,ANXA7 EXON Missense_P143H,Missense_P143H exm834173 10 75156333 [A/G] NM_004034,NM_001156 ANXA7,ANXA7 EXON Missense_P127S,Missense_P127S exm834180 10 75158036 [T/G] NM_004034,NM_001156 ANXA7,ANXA7 EXON Nonsense_Y54X,Nonsense_Y54X exm834181 10 75158077 [T/C] NM_004034,NM_001156 ANXA7,ANXA7 EXON Missense_M41V,Missense_M41V exm2217461 10 75158140 [A/C] NM_004034,NM_001156 ANXA7,ANXA7 EXON Missense_A20S,Missense_A20S exm834189 10 75184364 [A/G] NM_001024593 MSS51 EXON Missense_S444P exm834191 10 75184379 [T/C] NM_001024593 MSS51 EXON Missense_M439V exm834193 10 75184444 [A/G] NM_001024593 MSS51 EXON Missense_L417P exm834195 10 75184463 [A/C] NM_001024593 MSS51 EXON Missense_S411A exm834201 10 75184940 [A/G] NM_001024593 MSS51 EXON Missense_S360F exm1684779 10 75185628 [T/C] NM_001024593 MSS51 EXON Missense_E337G exm834209 10 75185673 [A/G] NM_001024593 MSS51 EXON Missense_T322I exm834210 10 75185676 [A/C] NM_001024593 MSS51 EXON Missense_G321V exm834212 10 75185748 [T/C] NM_001024593 MSS51 EXON Missense_R297H exm834213 10 75185749 [A/G] NM_001024593 MSS51 EXON Missense_R297C exm834217 10 75185784 [T/C] NM_001024593 MSS51 EXON Missense_E285G exm834227 10 75185985 [A/G] NM_001024593 MSS51 EXON Missense_V218A exm834233 10 75186082 [T/C] NM_001024593 MSS51 EXON Missense_D186N exm834243 10 75187395 [A/G] NM_001024593 MSS51 EXON Missense_S118F exm834244 10 75187410 [T/C] NM_001024593 MSS51 EXON Missense_S113N exm834247 10 75187441 [A/G] NM_001024593 MSS51 EXON Nonsense_R103X exm834248 10 75187483 [A/G] NM_001024593 MSS51 EXON Nonsense_R89X exm834250 10 75187501 [C/G] NM_001024593 MSS51 EXON Missense_V83L exm834260 10 75188026 [T/C] NM_001024593 MSS51 EXON Missense_R6Q exm834262 10 75188033 [A/G] NM_001024593 MSS51 EXON Missense_R4W exm2259632 10 75197051 [T/C] NM_001142353,NM_021132,NM_001142354 PPP3CB,PPP3CB,PPP3CB EXON Silent,Silent,Silent exm834310 10 75258437 [A/G] NM_152586 USP54 EXON Missense_P1669S exm834311 10 75258443 [T/C] NM_152586 USP54 EXON Missense_D1667N exm1684819 10 75258485 [A/G] NM_152586 USP54 EXON Missense_H1653Y exm834319 10 75258710 [T/C] NM_152586 USP54 EXON Missense_G1578S exm834324 10 75258838 [T/C] NM_152586 USP54 EXON Missense_R1535H exm834330 10 75260557 [A/G] NM_152586 USP54 EXON Missense_R1451C exm834336 10 75264652 [T/C] NM_152586 USP54 EXON Missense_V1423I exm834342 10 75264735 [T/C] NM_152586 USP54 EXON Missense_R1395Q exm1684832 10 75265076 [T/C] NM_152586 USP54 EXON Missense_R1387H exm834345 10 75265095 [A/G] NM_152586 USP54 EXON Missense_H1381Y exm834349 10 75265136 [T/C] NM_152586 USP54 EXON Missense_G1367D exm834352 10 75265154 [T/C] NM_152586 USP54 EXON Missense_H1361R exm834353 10 75265175 [T/C] NM_152586 USP54 EXON Missense_D1354G exm834358 10 75276309 [A/G] NM_152586 USP54 EXON Missense_T1292M exm834360 10 75276357 [T/C] NM_152586 USP54 EXON Missense_H1276R exm834362 10 75276448 [T/C] NM_152586 USP54 EXON Missense_K1246E exm834364 10 75276493 [T/C] NM_152586 USP54 EXON Missense_D1231N exm834366 10 75276618 [C/G] NM_152586 USP54 EXON Missense_S1189C exm834369 10 75276693 [A/G] NM_152586 USP54 EXON Missense_S1164F exm834376 10 75277015 [A/G] NM_152586 USP54 EXON Missense_P1057S exm834382 10 75277308 [A/G] NM_152586 USP54 EXON Missense_V959A exm834385 10 75277332 [A/G] NM_152586 USP54 EXON Missense_S951F exm834390 10 75277450 [T/C] NM_152586 USP54 EXON Missense_G912S exm834404 10 75283400 [A/G] NM_152586 USP54 EXON Missense_A768V exm834409 10 75286450 [A/G] NM_152586 USP54 EXON Missense_S717P exm1684848 10 75289470 [A/C] NM_152586 USP54 EXON Missense_D676E exm834418 10 75289574 [A/G] NM_152586 USP54 EXON Missense_R642W exm834428 10 75290044 [T/C] NM_152586 USP54 EXON Missense_S562N exm834431 10 75290074 [A/G] NM_152586 USP54 EXON Missense_S552F exm834432 10 75290108 [A/C] NM_152586 USP54 EXON Missense_D541Y exm834441 10 75290524 [A/C] NM_152586 USP54 EXON Missense_R462M exm834459 10 75301238 [C/G] NM_152586 USP54 EXON Missense_M240I exm834469 10 75305340 [G/C] NM_152586 USP54 EXON Missense_Q111E exm834474 10 75331219 [T/C] NM_152586 USP54 EXON Missense_H67R exm834493 10 75391879 [A/G] NM_021245 MYOZ1 EXON Missense_R237C exm834496 10 75393674 [A/C] NM_021245 MYOZ1 EXON Missense_Y218D exm834498 10 75393686 [T/C] NM_021245 MYOZ1 EXON Missense_E214K exm834510 10 75394371 [T/C] NM_021245 MYOZ1 EXON Missense_G125R exm834511 10 75394401 [T/C] NM_021245 MYOZ1 EXON Missense_G115S exm834521 10 75397587 [C/G] NM_021245 MYOZ1 EXON Missense_G56A exm834544 10 75406912 [T/G] NM_024875,NM_001114133 SYNPO2L,SYNPO2L EXON Missense_S609Y,Missense_S833Y exm834547 10 75406952 [A/G] NM_024875,NM_001114133 SYNPO2L,SYNPO2L EXON Missense_F596L,Missense_F820L exm834551 10 75407021 [C/G] NM_024875,NM_001114133 SYNPO2L,SYNPO2L EXON Missense_P573A,Missense_P797A exm834557 10 75407057 [A/G] NM_024875,NM_001114133 SYNPO2L,SYNPO2L EXON Missense_R561W,Missense_R785W exm834561 10 75407141 [T/C] NM_024875,NM_001114133 SYNPO2L,SYNPO2L EXON Missense_R533G,Missense_R757G exm834562 10 75407176 [A/G] NM_024875,NM_001114133 SYNPO2L,SYNPO2L EXON Missense_S521L,Missense_S745L exm834566 10 75407212 [T/C] NM_024875,NM_001114133 SYNPO2L,SYNPO2L EXON Missense_G509E,Missense_G733E exm834569 10 75407290 [A/G] NM_024875,NM_001114133 SYNPO2L,SYNPO2L EXON Missense_P483L,Missense_P707L exm834577 10 75407521 [A/C] NM_024875,NM_001114133 SYNPO2L,SYNPO2L EXON Missense_R406L,Missense_R630L exm834593 10 75407887 [T/G] NM_024875,NM_001114133 SYNPO2L,SYNPO2L EXON Missense_P284H,Missense_P508H exm834596 10 75407974 [A/C] NM_024875,NM_001114133 SYNPO2L,SYNPO2L EXON Missense_R255L,Missense_R479L exm834603 10 75408197 [T/G] NM_024875,NM_001114133 SYNPO2L,SYNPO2L EXON Missense_L181M,Missense_L405M exm834607 10 75408319 [A/G] NM_024875,NM_001114133 SYNPO2L,SYNPO2L EXON Missense_A140V,Missense_A364V exm834612 10 75408394 [A/G] NM_024875,NM_001114133 SYNPO2L,SYNPO2L EXON Missense_A115V,Missense_A339V exm2271314 10 75409967 [T/C] NM_024875,NM_001114133 SYNPO2L,SYNPO2L Silent,Silent exm834624 10 75413196 [T/C] NM_001114133 SYNPO2L EXON Missense_R158H exm834634 10 75415677 [T/C] NM_001114133 SYNPO2L EXON Missense_G2S exm834683 10 75519510 [A/G] NM_004922,NM_198597 SEC24C,SEC24C EXON Missense_G147S,Missense_G147S exm834693 10 75519959 [A/G] NM_004922,NM_198597 SEC24C,SEC24C EXON Missense_R222Q,Missense_R222Q exm834696 10 75519982 [T/C] NM_004922,NM_198597 SEC24C,SEC24C EXON Missense_L230F,Missense_L230F exm834699 10 75520057 [C/G] NM_004922,NM_198597 SEC24C,SEC24C EXON Missense_P255A,Missense_P255A exm1684946 10 75520120 [T/C] NM_004922,NM_198597 SEC24C,SEC24C EXON Missense_P276S,Missense_P276S exm834705 10 75520488 [T/C] NM_004922,NM_198597 SEC24C,SEC24C EXON Missense_R290W,Missense_R290W exm834716 10 75523634 [A/G] NM_004922,NM_198597 SEC24C,SEC24C EXON Missense_I374V,Missense_I374V exm834717 10 75523674 [T/C] NM_004922,NM_198597 SEC24C,SEC24C EXON Missense_M387T,Missense_M387T exm834728 10 75525861 [A/C] NM_004922,NM_198597 SEC24C,SEC24C EXON Missense_S500R,Missense_S500R exm834731 10 75525924 [C/G] NM_004922,NM_198597 SEC24C,SEC24C EXON Missense_R521S,Missense_R521S exm-rs3849969 10 75525999 [A/G] NM_004922,NM_198597 SEC24C,SEC24C Silent,Silent exm834735 10 75526116 [A/G] NM_004922,NM_198597 SEC24C,SEC24C EXON Missense_G539E,Missense_G539E exm2217474 10 75526275 [A/G] NM_004922,NM_198597 SEC24C,SEC24C EXON Missense_N592S,Missense_N592S exm834743 10 75526283 [T/C] NM_004922,NM_198597 SEC24C,SEC24C EXON Missense_R595W,Missense_R595W exm834765 10 75528819 [T/C] NM_004922,NM_198597 SEC24C,SEC24C EXON Missense_V778A,Missense_V778A exm834766 10 75528857 [T/G] NM_004922,NM_198597 SEC24C,SEC24C EXON Missense_V791L,Missense_V791L exm834769 10 75529163 [T/C] NM_004922,NM_198597 SEC24C,SEC24C EXON Missense_A828V,Missense_A828V exm834772 10 75529374 [A/G] NM_004922,NM_198597 SEC24C,SEC24C EXON Synonymous_A855A,Synonymous_A855A exm834773 10 75529412 [A/G] NM_004922,NM_198597 SEC24C,SEC24C EXON Missense_R868H,Missense_R868H exm834774 10 75529418 [T/C] NM_004922,NM_198597 SEC24C,SEC24C EXON Missense_T870M,Missense_T870M exm834775 10 75529594 [T/C] NM_004922,NM_198597 SEC24C,SEC24C EXON Synonymous_L895L,Synonymous_L895L exm834787 10 75530050 [A/G] NM_004922,NM_198597 SEC24C,SEC24C EXON Missense_V959I,Missense_V959I exm2217475 10 75530173 [A/G] NM_004922,NM_198597 SEC24C,SEC24C EXON Missense_G1000S,Missense_G1000S exm834798 10 75530531 [A/G] NM_004922,NM_198597 SEC24C,SEC24C EXON Missense_R1040Q,Missense_R1040Q exm834804 10 75532114 [T/C] NM_173540 FUT11 EXON Missense_V8A exm834805 10 75532119 [T/G] NM_173540 FUT11 EXON Missense_L10V exm834807 10 75532152 [A/G] NM_173540 FUT11 EXON Missense_A21T exm834837 10 75532994 [T/C] NM_173540 FUT11 EXON Missense_A252V exm834841 10 75533060 [A/G] NM_173540 FUT11 EXON Missense_Y274C exm834862 10 75533398 [T/A] NM_173540 FUT11 EXON Missense_F387I exm834865 10 75533432 [A/G] NM_173540 FUT11 EXON Missense_R398Q exm834866 10 75533438 [A/G] NM_173540 FUT11 EXON Missense_D400G exm834904 10 75549297 [T/C] NM_001242487,NM_001242488,NM_015037 ZSWIM8,ZSWIM8,ZSWIM8 EXON Synonymous_N210N,Synonymous_N210N,Synonymous_N210N exm834913 10 75549984 [T/C] NM_001242487,NM_001242488,NM_015037 ZSWIM8,ZSWIM8,ZSWIM8 EXON Missense_S292L,Missense_S292L,Missense_S292L exm834938 10 75551697 [T/C] NM_001242487,NM_001242488,NM_015037 ZSWIM8,ZSWIM8,ZSWIM8 EXON Missense_T467M,Missense_T467M,Missense_T467M exm834941 10 75551774 [T/C] NM_001242487,NM_001242488,NM_015037 ZSWIM8,ZSWIM8,ZSWIM8 EXON Missense_P493S,Missense_P493S,Missense_P493S exm834970 10 75552431 [T/C] NM_001242487,NM_001242488,NM_015037 ZSWIM8,ZSWIM8,ZSWIM8 EXON Missense_L712F,Missense_L712F,Missense_L712F exm2249363 10 75553453 [G/C] NM_001242487,NM_001242488,NM_015037 ZSWIM8,ZSWIM8,ZSWIM8 EXON Synonymous_L807L,Synonymous_L807L,Synonymous_L807L exm834990 10 75553651 [A/G] NM_001242487,NM_001242488,NM_015037 ZSWIM8,ZSWIM8,ZSWIM8 EXON Missense_R825H,Missense_R825H,Missense_R825H exm834998 10 75554331 [T/C] NM_001242487,NM_001242488,NM_015037 ZSWIM8,ZSWIM8,ZSWIM8 EXON Missense_R943C,Missense_R943C,Missense_R948C exm1685038 10 75556922 [T/C] NM_001242487,NM_001242488,NM_015037,NR_038357 ZSWIM8,ZSWIM8,ZSWIM8,ZSWIM8-AS1 EXON Missense_T1104I,Missense_T1104I,Missense_T1109I,Silent exm835011 10 75556978 [T/C] NM_001242487,NM_001242488,NM_015037,NR_038357 ZSWIM8,ZSWIM8,ZSWIM8,ZSWIM8-AS1 EXON Missense_Y1123H,Missense_Y1123H,Missense_Y1128H,Silent exm835015 10 75557243 [G/C] NM_001242487,NM_001242488,NM_015037,NR_038357 ZSWIM8,ZSWIM8,ZSWIM8,ZSWIM8-AS1 EXON Missense_G1176A,Missense_G1176A,Missense_G1181A,Silent exm835037 10 75559013 [C/G] NM_001242487,NM_001242488,NM_015037,NR_038357 ZSWIM8,ZSWIM8,ZSWIM8,ZSWIM8-AS1 EXON Missense_A1472G,Missense_A1472G,Missense_A1477G,Silent exm835047 10 75559853 [A/G] NM_001242487,NM_001242488,NM_015037,NR_038357 ZSWIM8,ZSWIM8,ZSWIM8,ZSWIM8-AS1 EXON Missense_V1579I,Missense_V1579I,Missense_V1584I,Silent exm835048 10 75559863 [T/C] NM_001242487,NM_001242488,NM_015037,NR_038357 ZSWIM8,ZSWIM8,ZSWIM8,ZSWIM8-AS1 EXON Missense_M1582T,Missense_M1582T,Missense_M1587T,Silent exm835053 10 75560080 [T/G] NM_001242487,NM_001242488,NM_015037,NR_038357 ZSWIM8,ZSWIM8,ZSWIM8,ZSWIM8-AS1 EXON Missense_F1621V,Missense_F1613V,Missense_F1626V,Silent exm835056 10 75560141 [T/G] NM_001242487,NM_001242488,NM_015037,NR_038357 ZSWIM8,ZSWIM8,ZSWIM8,ZSWIM8-AS1 EXON Missense_S1641I,Missense_S1633I,Missense_S1646I,Silent exm835068 10 75560878 [T/C] NM_001242487,NM_001242488,NM_015037,NR_038357 ZSWIM8,ZSWIM8,ZSWIM8,ZSWIM8-AS1 EXON Synonymous_P1745P,Missense_R1715C,Synonymous_P1750P,Silent exm835069 10 75560879 [A/G] NM_001242487,NM_001242488,NM_015037,NR_038357 ZSWIM8,ZSWIM8,ZSWIM8,ZSWIM8-AS1 EXON Missense_A1746T,Missense_R1715H,Missense_A1751T,Silent exm2273464 10 75562108 [A/G] NM_003635 NDST2 EXON Silent exm835082 10 75562240 [T/C] NM_003635 NDST2 EXON Missense_R874Q exm835092 10 75562457 [T/C] NM_003635 NDST2 EXON Missense_R834Q exm835099 10 75562523 [T/C] NM_003635 NDST2 EXON Missense_D812G exm835114 10 75563071 [T/G] NM_003635 NDST2 EXON Missense_Y730S exm835120 10 75563427 [C/G] NM_003635 NDST2 EXON Missense_E683Q exm835124 10 75563667 [C/G] NM_003635 NDST2 EXON Missense_H651D exm835128 10 75565367 [T/C] NM_003635 NDST2 EXON Missense_Q575R exm835133 10 75565704 [T/C] NM_003635 NDST2 EXON Missense_R506Q exm835136 10 75565747 [T/C] NM_003635 NDST2 EXON Missense_I492V exm835141 10 75566072 [T/C] NM_003635 NDST2 EXON Missense_R470H exm835145 10 75566461 [T/C] NM_003635 NDST2 EXON Missense_R401H exm835148 10 75566517 [A/C] NM_003635 NDST2 EXON Missense_E382D exm835150 10 75566540 [T/C] NM_003635 NDST2 EXON Missense_M375V exm835157 10 75566917 [G/C] NM_003635 NDST2 EXON Missense_V348L exm835159 10 75567294 [A/C] NM_003635 NDST2 EXON Missense_S285A exm835163 10 75567371 [T/C] NM_003635 NDST2 EXON Missense_R259Q exm835176 10 75567555 [A/G] NM_003635 NDST2 EXON Missense_R198W exm835179 10 75567603 [T/C] NM_003635 NDST2 EXON Missense_A182T exm835195 10 75567948 [A/G] NM_003635 NDST2 EXON Missense_R67W exm835197 10 75567980 [T/C] NM_003635 NDST2 EXON Missense_S56N exm835207 10 75574840 [T/C] NM_001204492,NM_001222,NM_172173,NM_172170,NM_172169,NM_172171 CAMK2G,CAMK2G,CAMK2G,CAMK2G,CAMK2G,CAMK2G EXON Missense_R518H,Missense_R474H,Missense_R483H,Missense_R497H,Missense_R506H,Missense_R535H exm835210 10 75574874 [T/G] NM_001204492,NM_001222,NM_172173,NM_172170,NM_172169,NM_172171 CAMK2G,CAMK2G,CAMK2G,CAMK2G,CAMK2G,CAMK2G EXON Missense_T507P,Missense_T463P,Missense_T472P,Missense_T486P,Missense_T495P,Missense_T524P exm835259 10 75608285 [A/G] NM_001204492,NM_001222,NM_172173,NM_172170,NM_172169,NM_172171 CAMK2G,CAMK2G,CAMK2G,CAMK2G,CAMK2G,CAMK2G EXON Synonymous_C200C,Synonymous_C200C,Synonymous_C200C,Synonymous_C200C,Synonymous_C200C,Synonymous_C200C exm2249364 10 75608351 [A/T] NM_001204492,NM_001222,NM_172173,NM_172170,NM_172169,NM_172171 CAMK2G,CAMK2G,CAMK2G,CAMK2G,CAMK2G,CAMK2G EXON Synonymous_P178P,Synonymous_P178P,Synonymous_P178P,Synonymous_P178P,Synonymous_P178P,Synonymous_P178P exm835283 10 75671356 [T/G] NM_001001791,NM_001145031,NM_002658 C10orf55,PLAU,PLAU EXON Silent,Silent,Missense_V15L exm835293 10 75671685 [T/C] NM_001001791,NM_001145031,NM_002658 C10orf55,PLAU,PLAU EXON Missense_T72A,Silent,Silent exm835306 10 75672059 [A/G] NM_001001791,NM_001145031,NM_002658 C10orf55,PLAU,PLAU EXON Silent,Missense_G41R,Missense_G58R exm835318 10 75673124 [T/C] NM_001001791,NM_001145031,NM_002658 C10orf55,PLAU,PLAU EXON Silent,Missense_H132Y,Missense_H149Y exm835322 10 75673417 [T/C] NM_001001791,NM_001145031,NM_002658 C10orf55,PLAU,PLAU EXON Silent,Missense_A177V,Missense_A194V exm835328 10 75673748 [A/C] NM_001001791,NM_001145031,NM_002658 C10orf55,PLAU,PLAU EXON Silent,Missense_K214Q,Missense_K231Q exm835329 10 75673763 [A/G] NM_001001791,NM_001145031,NM_002658 C10orf55,PLAU,PLAU EXON Silent,Missense_I219V,Missense_I236V exm835341 10 75675086 [T/C] NM_001001791,NM_001145031,NM_002658 C10orf55,PLAU,PLAU EXON Silent,Missense_Y333H,Missense_Y350H exm835346 10 75676249 [A/G] NM_001001791,NM_001145031,NM_002658 C10orf55,PLAU,PLAU EXON Silent,Missense_V391I,Missense_V408I exm835349 10 75676286 [A/G] NM_001001791,NM_001145031,NM_002658 C10orf55,PLAU,PLAU EXON Silent,Missense_R403H,Missense_R420H exm835371 10 75832578 [T/C] NM_014000,NM_003373 VCL,VCL EXON Missense_T197I,Missense_T197I exm835378 10 75834566 [T/C] NM_014000,NM_003373 VCL,VCL EXON Missense_R230C,Missense_R230C exm835387 10 75842257 [A/C] NM_014000,NM_003373 VCL,VCL EXON Missense_L277M,Missense_L277M exm835399 10 75849841 [A/G] NM_014000,NM_003373 VCL,VCL EXON Missense_A413T,Missense_A413T exm835403 10 75849898 [C/G] NM_014000,NM_003373 VCL,VCL EXON Missense_L432V,Missense_L432V exm835413 10 75854079 [T/C] NM_014000,NM_003373 VCL,VCL EXON Missense_T468M,Missense_T468M exm835415 10 75854181 [A/G] NM_014000,NM_003373 VCL,VCL EXON Missense_R502Q,Missense_R502Q exm835417 10 75854218 [T/C] NM_014000,NM_003373 VCL,VCL EXON Synonymous_V514V,Synonymous_V514V exm835418 10 75855425 [A/C] NM_014000,NM_003373 VCL,VCL EXON Missense_I519L,Missense_I519L exm835446 10 75863601 [A/T] NM_014000,NM_003373 VCL,VCL EXON Missense_L682F,Missense_L682F exm1685198 10 75867025 [C/G] NM_014000,NM_003373 VCL,VCL EXON Missense_I824M,Missense_I824M exm835461 10 75867074 [G/C] NM_014000,NM_003373 VCL,VCL EXON Missense_D841H,Missense_D841H exm835462 10 75867084 [T/C] NM_014000,NM_003373 VCL,VCL EXON Missense_P844L,Missense_P844L exm835469 10 75871722 [T/C] NM_014000,NM_003373 VCL,VCL EXON Missense_A934V,Silent exm835474 10 75871748 [G/C] NM_014000,NM_003373 VCL,VCL EXON Missense_P943A,Silent exm835477 10 75871844 [T/C] NM_014000,NM_003373 VCL,VCL EXON Missense_R975W,Silent exm835481 10 75873961 [T/C] NM_014000,NM_003373 VCL,VCL EXON Missense_A990V,Missense_A922V exm2249365 10 75883598 [T/C] NM_012095,NM_207012 AP3M1,AP3M1 EXON Synonymous_T409T,Synonymous_T409T exm835515 10 75888896 [T/C] NM_012095,NM_207012 AP3M1,AP3M1 EXON Missense_R258Q,Missense_R258Q exm835531 10 75893890 [T/C] NM_012095,NM_207012 AP3M1,AP3M1 EXON Missense_G160R,Missense_G160R exm835537 10 75896420 [T/C] NM_012095,NM_207012 AP3M1,AP3M1 EXON Missense_I139V,Missense_I139V exm835541 10 75896523 [A/C] NM_012095,NM_207012 AP3M1,AP3M1 EXON Missense_D104E,Missense_D104E exm2267011 10 75902177 [A/G] NM_012095,NM_207012 AP3M1,AP3M1 Silent,Silent exm835569 10 76074489 [A/G] NM_001202450,NM_006721,NM_001202449,NM_001123 ADK,ADK,ADK,ADK EXON Missense_I87V,Missense_I87V,Missense_I52V,Missense_I70V exm2271415 10 76180335 [T/C] NM_001202450,NM_006721,NM_001202449,NM_001123 ADK,ADK,ADK,ADK Silent,Silent,Silent,Silent exm2267012 10 76423739 [A/G] NM_001202450,NM_006721,NM_001202449,NM_001123 ADK,ADK,ADK,ADK Silent,Silent,Silent,Silent exm835592 10 76430001 [A/G] NM_001202450,NM_006721,NM_001202449,NM_001123 ADK,ADK,ADK,ADK EXON Missense_N256S,Missense_N313S,Missense_N278S,Missense_N296S exm835617 10 76732269 [C/G] NM_001256469,NM_001256468,NM_012330 KAT6B,KAT6B,KAT6B EXON Missense_M311I,Missense_M311I,Missense_M311I exm835622 10 76732361 [T/C] NM_001256469,NM_001256468,NM_012330 KAT6B,KAT6B,KAT6B EXON Missense_I342T,Missense_I342T,Missense_I342T exm835631 10 76735563 [T/C] NM_001256469,NM_001256468,NM_012330 KAT6B,KAT6B,KAT6B EXON Silent,Silent,Missense_P490S exm835638 10 76735758 [A/G] NM_001256469,NM_001256468,NM_012330 KAT6B,KAT6B,KAT6B EXON Silent,Silent,Missense_G555R exm835667 10 76780543 [T/C] NM_001256469,NM_001256468,NM_012330 KAT6B,KAT6B,KAT6B EXON Missense_L653F,Missense_L762F,Missense_L945F exm835668 10 76780900 [T/C] NM_001256469,NM_001256468,NM_012330 KAT6B,KAT6B,KAT6B EXON Missense_R668W,Missense_R777W,Missense_R960W exm2217491 10 76781843 [A/G] NM_001256469,NM_001256468,NM_012330 KAT6B,KAT6B,KAT6B EXON Missense_E784K,Missense_E893K,Missense_E1076K exm835705 10 76784759 [A/G] NM_001256469,NM_001256468,NM_012330 KAT6B,KAT6B,KAT6B EXON Missense_R847K,Missense_R956K,Missense_R1139K exm835710 10 76784992 [T/G] NM_001256469,NM_001256468,NM_012330 KAT6B,KAT6B,KAT6B EXON Missense_A925S,Missense_A1034S,Missense_A1217S exm2267108 10 76787128 [A/G] NM_001256469,NM_001256468,NM_012330 KAT6B,KAT6B,KAT6B Silent,Silent,Silent exm1685333 10 76788267 [A/G] NM_001256469,NM_001256468,NM_012330 KAT6B,KAT6B,KAT6B EXON Missense_S937G,Missense_S1046G,Missense_S1229G exm835716 10 76788345 [A/G] NM_001256469,NM_001256468,NM_012330 KAT6B,KAT6B,KAT6B EXON Missense_G963S,Missense_G1072S,Missense_G1255S exm835728 10 76788574 [C/G] NM_001256469,NM_001256468,NM_012330 KAT6B,KAT6B,KAT6B EXON Missense_A1039G,Missense_A1148G,Missense_A1331G exm835750 10 76788972 [A/G] NM_001256469,NM_001256468,NM_012330 KAT6B,KAT6B,KAT6B EXON Missense_V1172M,Missense_V1281M,Missense_V1464M exm2217492 10 76788988 [T/C] NM_001256469,NM_001256468,NM_012330 KAT6B,KAT6B,KAT6B EXON Missense_S1177L,Missense_S1286L,Missense_S1469L exm835756 10 76789077 [A/G] NM_001256469,NM_001256468,NM_012330 KAT6B,KAT6B,KAT6B EXON Missense_V1207I,Missense_V1316I,Missense_V1499I exm835758 10 76789092 [A/G] NM_001256469,NM_001256468,NM_012330 KAT6B,KAT6B,KAT6B EXON Missense_E1212K,Missense_E1321K,Missense_E1504K exm835776 10 76789417 [A/G] NM_001256469,NM_001256468,NM_012330 KAT6B,KAT6B,KAT6B EXON Missense_R1320H,Missense_R1429H,Missense_R1612H exm835808 10 76790331 [A/G] NM_001256469,NM_001256468,NM_012330 KAT6B,KAT6B,KAT6B EXON Missense_I1625V,Missense_I1734V,Missense_I1917V exm835814 10 76790461 [T/C] NM_001256469,NM_001256468,NM_012330 KAT6B,KAT6B,KAT6B EXON Missense_T1668M,Missense_T1777M,Missense_T1960M exm835837 10 76797632 [A/G] NM_001003892 DUPD1 EXON Missense_R209C exm835848 10 76797805 [T/C] NM_001003892 DUPD1 EXON Missense_R151H exm835856 10 76803567 [T/G] NM_001003892 DUPD1 EXON Missense_S137R exm835857 10 76803572 [T/G] NM_001003892 DUPD1 EXON Missense_A135E exm835864 10 76803695 [A/G] NM_001003892 DUPD1 EXON Missense_V94A exm835865 10 76803726 [T/C] NM_001003892 DUPD1 EXON Missense_V84M exm-rs7919006 10 76808760 [T/C] NM_001003892 DUPD1 Silent exm835869 10 76818077 [T/C] NM_001003892 DUPD1 EXON Missense_D66N exm835878 10 76818200 [T/C] NM_001003892 DUPD1 EXON Missense_E25K exm835879 10 76818202 [A/G] NM_001003892 DUPD1 EXON Missense_M24T exm835888 10 76854462 [T/C] NM_001007271,NM_001007272,NM_001007273,NM_016364 DUSP13,DUSP13,DUSP13,DUSP13 EXON Silent,Missense_R240Q,Missense_R283Q,Missense_R190Q exm835889 10 76854463 [G/C] NM_001007271,NM_001007272,NM_001007273,NM_016364 DUSP13,DUSP13,DUSP13,DUSP13 EXON Silent,Missense_R240G,Missense_R283G,Missense_R190G exm835896 10 76854564 [T/C] NM_001007271,NM_001007272,NM_001007273,NM_016364 DUSP13,DUSP13,DUSP13,DUSP13 EXON Silent,Missense_C206Y,Missense_C249Y,Missense_C156Y exm835897 10 76854579 [T/G] NM_001007271,NM_001007272,NM_001007273,NM_016364 DUSP13,DUSP13,DUSP13,DUSP13 EXON Silent,Missense_A201D,Missense_A244D,Missense_A151D exm835900 10 76854631 [T/C] NM_001007271,NM_001007272,NM_001007273,NM_016364 DUSP13,DUSP13,DUSP13,DUSP13 EXON Silent,Missense_V184M,Missense_V227M,Missense_V134M exm835904 10 76855365 [T/C] NM_001007271,NM_001007272,NM_001007273,NM_016364 DUSP13,DUSP13,DUSP13,DUSP13 EXON Silent,Missense_R171Q,Missense_R214Q,Missense_R121Q exm835916 10 76855505 [A/G] NM_001007271,NM_001007272,NM_001007273,NM_016364 DUSP13,DUSP13,DUSP13,DUSP13 EXON Silent,Synonymous_H124H,Synonymous_H167H,Synonymous_H74H exm2249368 10 76855505 [A/G] NM_001007271,NM_001007272,NM_001007273,NM_016364 DUSP13,DUSP13,DUSP13,DUSP13 EXON Silent,Synonymous_H124H,Synonymous_H167H,Synonymous_H74H exm1685381 10 76855542 [T/C] NM_001007271,NM_001007272,NM_001007273,NM_016364 DUSP13,DUSP13,DUSP13,DUSP13 EXON Silent,Missense_R112Q,Missense_R155Q,Missense_R62Q exm835921 10 76857470 [T/G] NM_001007271,NM_001007272,NM_001007273,NM_016364 DUSP13,DUSP13,DUSP13,DUSP13 EXON Silent,Missense_A108E,Missense_A151E,Missense_A58E exm835922 10 76857504 [T/C] NM_001007271,NM_001007272,NM_001007273,NM_016364 DUSP13,DUSP13,DUSP13,DUSP13 EXON Silent,Missense_D97N,Missense_D140N,Missense_D47N exm835927 10 76857569 [T/G] NM_001007271,NM_001007272,NM_001007273,NM_016364 DUSP13,DUSP13,DUSP13,DUSP13 EXON Silent,Missense_P75Q,Missense_P118Q,Missense_P25Q exm835932 10 76857615 [A/G] NM_001007271,NM_001007272,NM_001007273,NM_016364 DUSP13,DUSP13,DUSP13,DUSP13 EXON Silent,Missense_R60W,Missense_R103W,Missense_R10W exm835938 10 76861680 [T/C] NM_001007271,NM_001007272,NM_001007273 DUSP13,DUSP13,DUSP13 EXON Silent,Silent,Missense_S75G exm2249370 10 76863356 [A/G] NM_001007271,NM_001007272,NM_001007273 DUSP13,DUSP13,DUSP13 Silent,Silent,Silent exm835942 10 76863692 [A/G] NM_001007271,NM_001007272,NM_001007273 DUSP13,DUSP13,DUSP13 EXON Silent,Silent,Missense_A48V exm2249371 10 76863730 [A/G] NM_001007271,NM_001007272,NM_001007273 DUSP13,DUSP13,DUSP13 EXON Silent,Silent,Synonymous_V35V exm835944 10 76863759 [C/G] NM_001007271,NM_001007272,NM_001007273 DUSP13,DUSP13,DUSP13 EXON Silent,Silent,Missense_Q26E exm835952 10 76865489 [A/G] NM_001007271,NM_001007272,NM_001007273 DUSP13,DUSP13,DUSP13 EXON Nonsense_R169X,Silent,Silent exm835957 10 76865548 [T/C] NM_001007271,NM_001007272,NM_001007273 DUSP13,DUSP13,DUSP13 EXON Missense_R149Q,Silent,Silent exm835958 10 76865549 [A/G] NM_001007271,NM_001007272,NM_001007273 DUSP13,DUSP13,DUSP13 EXON Missense_R149W,Silent,Silent exm835960 10 76865581 [A/G] NM_001007271,NM_001007272,NM_001007273 DUSP13,DUSP13,DUSP13 EXON Missense_T138M,Silent,Silent exm835962 10 76867753 [G/C] NM_001007271,NM_001007272,NM_001007273 DUSP13,DUSP13,DUSP13 EXON Missense_G122R,Silent,Silent exm835963 10 76867770 [T/C] NM_001007271,NM_001007272,NM_001007273 DUSP13,DUSP13,DUSP13 EXON Missense_R116H,Silent,Silent exm835968 10 76867879 [T/C] NM_001007271,NM_001007272,NM_001007273 DUSP13,DUSP13,DUSP13 EXON Missense_G80S,Silent,Silent exm835969 10 76867899 [T/C] NM_001007271,NM_001007272,NM_001007273 DUSP13,DUSP13,DUSP13 EXON Missense_K73R,Silent,Silent exm835970 10 76867952 [T/G] NM_001007271,NM_001007272,NM_001007273 DUSP13,DUSP13,DUSP13 EXON Missense_N55K,Silent,Silent exm835978 10 76868896 [A/G] NM_001007271,NM_001007272,NM_001007273 DUSP13,DUSP13,DUSP13 EXON Missense_P7L,Missense_P7L,Silent exm835989 10 76910529 [A/T] NM_144660,NM_001174156 SAMD8,SAMD8 EXON Missense_D81E,Missense_D81E exm1685397 10 76910714 [A/G] NM_144660,NM_001174156 SAMD8,SAMD8 EXON Missense_R143Q,Missense_R143Q exm835998 10 76924403 [T/C] NM_144660,NM_001174156 SAMD8,SAMD8 EXON Synonymous_S193S,Synonymous_S193S exm-rs2657291 10 76926703 [T/C] NM_144660,NM_001174156 SAMD8,SAMD8 Silent,Silent exm836020 10 76970936 [T/C] NM_001184823,NR_033675,NM_003375,NM_001184783 VDAC2,VDAC2,VDAC2,VDAC2 EXON Missense_T7I,Silent,Missense_T7I,Silent exm836060 10 76993912 [T/G] NM_144589 COMTD1 EXON Missense_N236K exm836063 10 76993948 [T/G] NM_144589 COMTD1 EXON Missense_K224N exm836073 10 76994463 [T/C] NM_144589 COMTD1 EXON Missense_V181M exm836083 10 76995102 [T/G] NM_144589 COMTD1 EXON Missense_S84Y exm836086 10 76995442 [T/C] NM_144589 COMTD1 EXON Missense_S52G exm836120 10 77159048 [A/G] NM_032772 ZNF503 EXON Missense_P467L exm836154 10 77160021 [T/C] NM_032772 ZNF503 EXON Missense_G143S exm2267014 10 77284374 [A/G] exm2267109 10 77504287 [A/G] exm2249374 10 77738382 [A/G] NM_032024 C10orf11 Silent exm836191 10 77795801 [A/G] NM_032024 C10orf11 EXON Missense_E28G exm1685525 10 77818505 [T/G] NM_032024 C10orf11 EXON Missense_L132F exm836205 10 77818522 [T/C] NM_032024 C10orf11 EXON Missense_M138T exm836207 10 78084184 [T/C] NM_032024 C10orf11 EXON Missense_S153F exm836209 10 78084193 [A/G] NM_032024 C10orf11 EXON Missense_R156H exm2271416 10 78122729 [T/G] NM_032024 C10orf11 Silent exm-rs11001819 10 78315224 [A/G] NM_032024 C10orf11 Silent exm836212 10 78316976 [A/G] NM_032024 C10orf11 EXON Missense_G176E exm1685566 10 78316984 [T/C] NM_032024 C10orf11 EXON Missense_R179C exm2271315 10 78444456 [T/G] exm-rs2116830 10 78646536 [T/G] NM_001014797,NM_001271518,NM_002247,NM_001161353,NM_001271519,NM_001161352 KCNMA1,KCNMA1,KCNMA1,KCNMA1,KCNMA1,KCNMA1 EXON Silent,Silent,Silent,Silent,Silent,Silent exm836223 10 78647062 [A/G] NM_001014797,NM_001271518,NM_002247,NM_001161353,NM_001271519,NM_001161352 KCNMA1,KCNMA1,KCNMA1,KCNMA1,KCNMA1,KCNMA1 EXON Missense_R1171W,Missense_R1117W,Missense_R1167W,Missense_R1208W,Missense_R1197W,Missense_R1225W exm836242 10 78674745 [A/G] NM_001014797,NM_001271518,NM_002247,NM_001161353,NM_001271519,NM_001161352 KCNMA1,KCNMA1,KCNMA1,KCNMA1,KCNMA1,KCNMA1 EXON Missense_R935C,Missense_R881C,Missense_R931C,Missense_R972C,Missense_R934C,Missense_R989C exm836261 10 78709061 [T/C] NM_001014797,NM_001271518,NM_002247,NM_001161353,NM_001271519,NM_001161352 KCNMA1,KCNMA1,KCNMA1,KCNMA1,KCNMA1,KCNMA1 EXON Missense_V796I,Missense_V742I,Missense_V792I,Missense_V833I,Missense_V795I,Missense_V850I exm836268 10 78711877 [A/G] NM_001014797,NM_001271518,NM_002247,NM_001161353,NM_001271519,NM_001161352 KCNMA1,KCNMA1,KCNMA1,KCNMA1,KCNMA1,KCNMA1 EXON Silent,Silent,Silent,Missense_M784T,Silent,Silent exm836273 10 78713645 [A/C] NM_001014797,NM_001271518,NM_002247,NM_001161353,NM_001271519,NM_001161352 KCNMA1,KCNMA1,KCNMA1,KCNMA1,KCNMA1,KCNMA1 EXON Missense_D746Y,Missense_D692Y,Missense_D742Y,Missense_D742Y,Missense_D745Y,Missense_D800Y exm2267016 10 78762966 [A/G] NM_001014797,NM_001271518,NM_002247,NM_001161353,NM_001271519,NM_001161352 KCNMA1,KCNMA1,KCNMA1,KCNMA1,KCNMA1,KCNMA1 Silent,Silent,Silent,Silent,Silent,Silent exm2259638 10 79026227 [T/C] NM_001014797,NM_001271518,NM_002247,NM_001161353,NM_001271519,NM_001161352 KCNMA1,KCNMA1,KCNMA1,KCNMA1,KCNMA1,KCNMA1 Silent,Silent,Silent,Silent,Silent,Silent exm836351 10 79163747 [A/G] NM_001014797,NM_001271518,NM_002247,NM_001161353,NM_001271519,NM_001161352 KCNMA1,KCNMA1,KCNMA1,KCNMA1,KCNMA1,KCNMA1 EXON Missense_A138V,Silent,Missense_A138V,Missense_A138V,Missense_A138V,Missense_A138V exm2249377 10 79215213 [T/C] NM_001014797,NM_001271518,NM_002247,NM_001161353,NM_001271519,NM_001161352 KCNMA1,KCNMA1,KCNMA1,KCNMA1,KCNMA1,KCNMA1 Silent,Silent,Silent,Silent,Silent,Silent exm-rs4979906 10 79444753 [A/G] exm836371 10 79552206 [A/G] NM_004747 DLG5 EXON Missense_P1918S exm836374 10 79552248 [T/C] NM_004747 DLG5 EXON Missense_V1904I exm836375 10 79552251 [T/C] NM_004747 DLG5 EXON Missense_M1903V exm836377 10 79552300 [T/C] NM_004747 DLG5 EXON Synonymous_G1886G exm836393 10 79555833 [T/C] NM_004747 DLG5 EXON Missense_E1808K exm836401 10 79556301 [A/G] NM_004747 DLG5 EXON Missense_L1739P exm836403 10 79556305 [T/C] NM_004747 DLG5 EXON Missense_A1738T exm836421 10 79565566 [T/C] NM_004747 DLG5 EXON Missense_N1674S exm836431 10 79566664 [T/C] NM_004747 DLG5 EXON Missense_D1607N exm1685668 10 79566672 [T/C] NM_004747 DLG5 EXON Missense_R1604Q exm836433 10 79566684 [A/G] NM_004747 DLG5 EXON Missense_A1600V exm836439 10 79567687 [T/C] NM_004747 DLG5 EXON Missense_V1555M exm836448 10 79569448 [T/C] NM_004747 DLG5 EXON Missense_V1502I exm836451 10 79569475 [G/C] NM_004747 DLG5 EXON Missense_A1493P exm836455 10 79570873 [T/G] NM_004747 DLG5 EXON Missense_P1481Q exm836486 10 79576454 [A/C] NM_004747 DLG5 EXON Missense_V1294L exm836494 10 79577570 [T/C] NM_004747 DLG5 EXON Missense_H1250R exm836501 10 79579175 [A/G] NM_004747 DLG5 EXON Missense_L1192P exm836502 10 79579222 [A/G] NM_004747 DLG5 EXON Synonymous_G1176G exm836524 10 79580976 [A/G] NM_004747 DLG5 EXON Missense_P1089L exm836527 10 79581028 [A/G] NM_004747 DLG5 EXON Missense_R1072C exm836528 10 79581042 [T/C] NM_004747 DLG5 EXON Missense_R1067H exm836532 10 79581145 [T/C] NM_004747 DLG5 EXON Missense_E1033K exm1685717 10 79581223 [T/C] NM_004747 DLG5 EXON Missense_A1007T exm836541 10 79581282 [T/C] NM_004747 DLG5 EXON Missense_K987R exm836543 10 79581343 [A/G] NM_004747 DLG5 EXON Missense_P967S exm836564 10 79581701 [T/G] NM_004747 DLG5 EXON Missense_F847L exm836567 10 79581754 [A/G] NM_004747 DLG5 EXON Missense_H830Y exm2249379 10 79584160 [T/C] NM_004747 DLG5 EXON Synonymous_L788L exm836576 10 79584179 [T/C] NM_004747 DLG5 EXON Missense_R782H exm2249380 10 79589183 [A/G] NM_004747 DLG5 EXON Synonymous_V705V exm836587 10 79589260 [T/C] NM_004747 DLG5 EXON Missense_D680N exm836588 10 79589287 [T/C] NM_004747 DLG5 EXON Missense_V671I exm836590 10 79590510 [C/G] NM_004747 DLG5 EXON Missense_E624Q exm1685741 10 79593715 [A/G] NM_004747 DLG5 EXON Missense_R569C exm836622 10 79601916 [A/G] NM_004747 DLG5 EXON Missense_T387M exm836623 10 79601934 [T/C] NM_004747 DLG5 EXON Missense_H381R exm836625 10 79603247 [A/G] NM_004747 DLG5 EXON Missense_T361M exm836637 10 79613285 [T/C] NM_004747 DLG5 EXON Missense_S231G exm836640 10 79614079 [T/C] NM_004747 DLG5 EXON Missense_V196M exm836649 10 79616512 [A/G] NM_004747 DLG5 EXON Missense_T171M exm836655 10 79616605 [T/C] NM_004747 DLG5 EXON Missense_Q140R exm2217522 10 79737283 [T/G] NM_007055 POLR3A EXON Missense_P1376T exm836679 10 79737352 [T/C] NM_007055 POLR3A EXON Missense_M1353V exm836692 10 79741271 [T/C] NM_007055 POLR3A EXON Missense_N1269S exm836696 10 79741937 [T/C] NM_007055 POLR3A EXON Missense_R1245Q exm836706 10 79742529 [T/C] NM_007055 POLR3A EXON Missense_R1159H exm836709 10 79743715 [T/C] NM_007055 POLR3A EXON Missense_K1131R exm836714 10 79744019 [T/C] NM_007055 POLR3A EXON Missense_D1094N exm836724 10 79745668 [A/G] NM_007055 POLR3A EXON Missense_Y1022H exm836728 10 79745830 [A/C] NM_007055 POLR3A Silent exm836730 10 79745881 [T/C] NM_007055 POLR3A EXON Missense_I980V exm836735 10 79750906 [C/G] NM_007055 POLR3A EXON Missense_S936T exm836741 10 79753125 [A/G] NM_007055 POLR3A EXON Nonsense_R873X exm836769 10 79764621 [A/G] NM_007055 POLR3A EXON Synonymous_I700I exm836773 10 79767484 [G/C] NM_007055 POLR3A EXON Missense_A684P exm836784 10 79769387 [G/C] NM_007055 POLR3A EXON Missense_R606T exm2276113 10 79769647 [A/C] NM_007055 POLR3A EXON Missense_R582L exm836788 10 79769648 [A/G] NM_007055 POLR3A EXON Missense_R582C exm836789 10 79769663 [T/C] NM_007055 POLR3A EXON Missense_E577K exm836790 10 79769668 [T/A] NM_007055 POLR3A EXON Missense_K575M exm836832 10 79785423 [C/G] NM_007055 POLR3A EXON Missense_C92S exm2271418 10 79785825 [T/G] NM_007055 POLR3A Silent exm836888 10 79799959 [A/C] NM_001142285,NM_001142284,NM_001142283,NM_001026,NM_033022,NM_001142282 RPS24,RPS24,RPS24,RPS24,RPS24,RPS24 EXON Silent,Silent,Silent,Silent,Silent,Missense_Q131K exm836890 10 79799984 [A/G] NM_001142285,NM_001142284,NM_001142283,NM_001026,NM_033022,NM_001142282 RPS24,RPS24,RPS24,RPS24,RPS24,RPS24 Silent,Silent,Silent,Silent,Silent,Silent exm836904 10 79814599 [A/G] NM_001142285 RPS24 EXON Missense_H234R exm2249381 10 79814747 [T/C] NM_001142285 RPS24 EXON Synonymous_C283C exm2249382 10 79872834 [T/C] exm-rs2395528 10 80100861 [T/C] exm2267017 10 80481918 [A/G] exm-rs11002803 10 80820431 [T/C] NR_015429,NR_024431,NR_024429 ZMIZ1-AS1,ZMIZ1-AS1,ZMIZ1-AS1 Silent,Silent,Silent exm-rs704010 10 80841148 [T/C] NM_020338 ZMIZ1 Silent exm2249385 10 80849153 [T/C] NM_020338 ZMIZ1 Silent exm2259640 10 80898075 [A/G] NM_020338 ZMIZ1 Silent exm-rs12571751 10 80942631 [A/G] NM_020338 ZMIZ1 Silent exm-rs703965 10 80955067 [T/C] NM_020338 ZMIZ1 Silent exm-rs11593576 10 81015896 [T/C] NM_020338 ZMIZ1 Silent exm836938 10 81037082 [A/G] NM_020338 ZMIZ1 EXON Missense_S142N exm836946 10 81050824 [T/G] NM_020338 ZMIZ1 EXON Missense_A217S exm836949 10 81050875 [A/C] NM_020338 ZMIZ1 EXON Missense_I234L exm836987 10 81057383 [A/G] NM_020338 ZMIZ1 EXON Missense_N476S exm836992 10 81057418 [A/G] NM_020338 ZMIZ1 EXON Missense_S488G exm836993 10 81057446 [A/G] NM_020338 ZMIZ1 EXON Missense_R497K exm-rs1250552 10 81058027 [A/G] NM_020338 ZMIZ1 Silent exm836998 10 81058336 [A/G] NM_020338 ZMIZ1 EXON Synonymous_P555P exm837061 10 81067180 [A/G] NM_020338 ZMIZ1 EXON Missense_H896R exm837070 10 81070780 [A/T] NM_020338 ZMIZ1 EXON Missense_S979C exm837103 10 81109501 [A/G] NM_005729 PPIF EXON Missense_M103V exm837108 10 81111276 [A/G] NM_005729 PPIF EXON Missense_G117R exm1686011 10 81111337 [T/C] NM_005729 PPIF EXON Missense_P137L exm837127 10 81113515 [A/G] NM_005729 PPIF EXON Missense_V181M exm837142 10 81146159 [A/G] NM_153367 ZCCHC24 EXON Missense_P223L exm2271419 10 81164521 [T/C] NM_153367 ZCCHC24 Silent exm837156 10 81192463 [T/C] NM_153367 ZCCHC24 EXON Missense_N100D exm837158 10 81192496 [A/C] NM_153367 ZCCHC24 EXON Missense_Y89D exm837232 10 81318680 [T/C] NM_001098668 SFTPA2 EXON Missense_R85H exm837242 10 81318737 [A/G] NM_001098668 SFTPA2 EXON Missense_T66I exm837276 10 81372092 [T/C] NM_005411,NM_001093770,NM_001164644,NM_001164645,NM_001164646,NM_001164647 SFTPA1,SFTPA1,SFTPA1,SFTPA1,SFTPA1,SFTPA1 EXON Missense_M66T,Missense_M81T,Missense_M66T,Silent,Silent,Missense_M66T exm837277 10 81372093 [A/G] NM_005411,NM_001093770,NM_001164644,NM_001164645,NM_001164646,NM_001164647 SFTPA1,SFTPA1,SFTPA1,SFTPA1,SFTPA1,SFTPA1 EXON Missense_M66I,Missense_M81I,Missense_M66I,Silent,Silent,Missense_M66I exm837280 10 81372119 [T/A] NM_005411,NM_001093770,NM_001164644,NM_001164645,NM_001164646,NM_001164647 SFTPA1,SFTPA1,SFTPA1,SFTPA1,SFTPA1,SFTPA1 EXON Missense_L75Q,Missense_L90Q,Missense_L75Q,Silent,Silent,Missense_L75Q exm837320 10 81697697 [T/C] NM_003019 SFTPD EXON Missense_G347R exm837322 10 81697811 [T/C] NM_003019 SFTPD EXON Missense_E309K exm837327 10 81697868 [A/T] NM_003019 SFTPD EXON Missense_S290T exm837339 10 81701264 [A/G] NM_003019 SFTPD EXON Missense_A186V exm837340 10 81701722 [T/C] NM_003019 SFTPD EXON Missense_T180A exm837343 10 81701739 [T/C] NM_003019 SFTPD EXON Missense_R174H exm837344 10 81701758 [A/G] NM_003019 SFTPD EXON Nonsense_R168X exm837349 10 81702167 [A/G] NM_003019 SFTPD EXON Missense_P137L exm837352 10 81702210 [C/G] NM_003019 SFTPD EXON Missense_L123V exm837362 10 81702597 [A/G] NM_003019 SFTPD EXON Nonsense_Q80X exm837370 10 81706274 [A/G] NM_003019 SFTPD EXON Missense_P48S exm837374 10 81706288 [T/A] NM_003019 SFTPD EXON Missense_V43E exm837375 10 81706324 [A/G] NM_003019 SFTPD EXON Missense_M31T exm2271320 10 81765502 [T/C] exm837383 10 81838541 [G/C] NR_027430,NR_027429,NR_027431,NR_027432,NR_027428,NM_001270371,NM_001270372,NM_025125,NM_001270370,NM_001270373 TMEM254-AS1,TMEM254-AS1,TMEM254-AS1,TMEM254-AS1,TMEM254-AS1,TMEM254,TMEM254,TMEM254,TMEM254,TMEM254 EXON Silent,Silent,Silent,Silent,Silent,Missense_T29R,Missense_T29R,Missense_T29R,Missense_T29R,Missense_T29R exm837391 10 81841675 [A/C] NM_001270371,NM_001270372,NM_025125,NM_001270370,NM_001270373,NM_001270369,NM_001270368,NM_001270367,NR_072985,NR_072987,NR_072984,NR_072986,NM_001270374 TMEM254,TMEM254,TMEM254,TMEM254,TMEM254,TMEM254,TMEM254,TMEM254,TMEM254,TMEM254,TMEM254,TMEM254,TMEM254 EXON Synonymous_T87T,Missense_H56N,Missense_H56N,Missense_H56N,Missense_H56N,Missense_H80N,Missense_H80N,Missense_H80N,Silent,Silent,Silent,Silent,Synonymous_T62T exm837395 10 81841911 [T/G] NM_001270371,NM_001270372,NM_025125,NM_001270370,NM_001270373,NM_001270369,NM_001270368,NM_001270367,NR_072985,NR_072987,NR_072984,NR_072986,NM_001270374 TMEM254,TMEM254,TMEM254,TMEM254,TMEM254,TMEM254,TMEM254,TMEM254,TMEM254,TMEM254,TMEM254,TMEM254,TMEM254 EXON Missense_L99F,Missense_A68S,Missense_A68S,Missense_A68S,Missense_A68S,Missense_A92S,Missense_A92S,Missense_A92S,Silent,Silent,Silent,Silent,Missense_L74F exm837397 10 81841960 [A/G] NM_001270371,NM_001270372,NM_025125,NM_001270370,NM_001270373,NM_001270369,NM_001270368,NM_001270367,NR_072985,NR_072987,NR_072984,NR_072986,NM_001270374 TMEM254,TMEM254,TMEM254,TMEM254,TMEM254,TMEM254,TMEM254,TMEM254,TMEM254,TMEM254,TMEM254,TMEM254,TMEM254 EXON Silent,Missense_K84R,Missense_K84R,Missense_K84R,Missense_K84R,Missense_K108R,Missense_K108R,Missense_K108R,Silent,Silent,Silent,Silent,Silent exm837400 10 81850554 [T/C] NM_001270371,NM_001270372,NM_025125,NM_001270370,NM_001270373,NM_001270369,NM_001270368,NM_001270367,NR_072985,NR_072987,NR_072984,NR_072986,NM_001270374 TMEM254,TMEM254,TMEM254,TMEM254,TMEM254,TMEM254,TMEM254,TMEM254,TMEM254,TMEM254,TMEM254,TMEM254,TMEM254 EXON Silent,Silent,Missense_H85Y,Silent,Silent,Silent,Silent,Missense_H109Y,Silent,Silent,Silent,Silent,Silent exm837402 10 81850607 [A/C] NM_001270371,NM_001270372,NM_025125,NM_001270370,NM_001270373,NM_001270369,NM_001270368,NM_001270367,NR_072985,NR_072987,NR_072984,NR_072986,NM_001270374 TMEM254,TMEM254,TMEM254,TMEM254,TMEM254,TMEM254,TMEM254,TMEM254,TMEM254,TMEM254,TMEM254,TMEM254,TMEM254 EXON Silent,Silent,Missense_F102L,Silent,Silent,Silent,Silent,Missense_F126L,Silent,Silent,Silent,Silent,Silent exm837410 10 81901858 [C/G] NM_001012973 PLAC9 EXON Missense_P29A exm837411 10 81901859 [T/C] NM_001012973 PLAC9 EXON Missense_P29L exm837415 10 81901912 [T/C] NM_001012973 PLAC9 EXON Missense_R47C exm837416 10 81901913 [A/G] NM_001012973 PLAC9 EXON Missense_R47H exm837419 10 81901923 [A/T] NM_001012973 PLAC9 EXON Missense_D50E exm837423 10 81903985 [C/G] NM_001012973 PLAC9 EXON Missense_E57Q exm837424 10 81903986 [A/C] NM_001012973 PLAC9 EXON Missense_E57A exm837427 10 81904064 [T/C] NM_001012973 PLAC9 EXON Missense_P83L exm837434 10 81904657 [T/C] NM_001012973 PLAC9 EXON Synonymous_D95D exm837449 10 81917431 [T/C] NM_145869,NM_001157,NM_145868 ANXA11,ANXA11,ANXA11 EXON Missense_R475Q,Missense_R475Q,Missense_R475Q exm837452 10 81917486 [T/C] NM_145869,NM_001157,NM_145868 ANXA11,ANXA11,ANXA11 EXON Missense_I457V,Missense_I457V,Missense_I457V exm837463 10 81918886 [T/C] NM_145869,NM_001157,NM_145868 ANXA11,ANXA11,ANXA11 EXON Missense_G416R,Missense_G416R,Missense_G416R exm837470 10 81921715 [A/G] NM_145869,NM_001157,NM_145868 ANXA11,ANXA11,ANXA11 EXON Missense_R386W,Missense_R386W,Missense_R386W exm837475 10 81921759 [T/C] NM_145869,NM_001157,NM_145868 ANXA11,ANXA11,ANXA11 EXON Missense_R371H,Missense_R371H,Missense_R371H exm837476 10 81921766 [T/C] NM_145869,NM_001157,NM_145868 ANXA11,ANXA11,ANXA11 EXON Missense_E369K,Missense_E369K,Missense_E369K exm837484 10 81923309 [A/T] NM_145869,NM_001157,NM_145868 ANXA11,ANXA11,ANXA11 EXON Missense_L337H,Missense_L337H,Missense_L337H exm837490 10 81923357 [T/G] NM_145869,NM_001157,NM_145868 ANXA11,ANXA11,ANXA11 EXON Missense_T321N,Missense_T321N,Missense_T321N exm837492 10 81923853 [T/C] NM_145869,NM_001157,NM_145868 ANXA11,ANXA11,ANXA11 EXON Missense_R302H,Missense_R302H,Missense_R302H exm837494 10 81923860 [T/C] NM_145869,NM_001157,NM_145868 ANXA11,ANXA11,ANXA11 EXON Missense_A300T,Missense_A300T,Missense_A300T exm837499 10 81925856 [A/G] NM_145869,NM_001157,NM_145868 ANXA11,ANXA11,ANXA11 EXON Missense_I281T,Missense_I281T,Missense_I281T exm837500 10 81925866 [T/C] NM_145869,NM_001157,NM_145868 ANXA11,ANXA11,ANXA11 EXON Missense_I278V,Missense_I278V,Missense_I278V exm2249391 10 81925903 [T/C] NM_145869,NM_001157,NM_145868 ANXA11,ANXA11,ANXA11 EXON Synonymous_T265T,Synonymous_T265T,Synonymous_T265T exm837506 10 81926659 [A/G] NM_145869,NM_001157,NM_145868 ANXA11,ANXA11,ANXA11 EXON Missense_T244M,Missense_T244M,Missense_T244M exm837508 10 81926702 [A/G] NM_145869,NM_001157,NM_145868 ANXA11,ANXA11,ANXA11 EXON Missense_R230C,Missense_R230C,Missense_R230C exm837515 10 81927002 [T/C] NM_145869,NM_001157,NM_145868 ANXA11,ANXA11,ANXA11 EXON Missense_R210Q,Missense_R210Q,Missense_R210Q exm837519 10 81927059 [T/C] NM_145869,NM_001157,NM_145868 ANXA11,ANXA11,ANXA11 EXON Missense_R191Q,Missense_R191Q,Missense_R191Q exm837525 10 81928765 [A/G] NM_145869,NM_001157,NM_145868 ANXA11,ANXA11,ANXA11 EXON Missense_P174L,Missense_P174L,Missense_P174L exm837526 10 81928766 [A/G] NM_145869,NM_001157,NM_145868 ANXA11,ANXA11,ANXA11 EXON Missense_P174S,Missense_P174S,Missense_P174S exm1686153 10 81929021 [T/C] NM_145869,NM_001157,NM_145868 ANXA11,ANXA11,ANXA11 EXON Missense_G89S,Missense_G89S,Missense_G89S exm837550 10 81930620 [T/G] NM_145869,NM_001157,NM_145868 ANXA11,ANXA11,ANXA11 EXON Missense_P36H,Missense_P36H,Missense_P36H exm837555 10 81932595 [A/G] NM_145869,NM_001157,NM_145868 ANXA11,ANXA11,ANXA11 EXON Missense_P8L,Missense_P8L,Missense_P8L exm837574 10 82034385 [T/C] NM_000429 MAT1A EXON Missense_E326K exm837587 10 82034948 [A/G] NM_000429 MAT1A EXON Missense_A259V exm837589 10 82036179 [T/C] NM_000429 MAT1A EXON Missense_V241I exm1686177 10 82036188 [T/C] NM_000429 MAT1A EXON Missense_E238K exm837595 10 82036304 [T/C] NM_000429 MAT1A EXON Missense_R199H exm837626 10 82098248 [T/G] NM_001269053,NM_138812 DYDC1,DYDC1 EXON Missense_E160A,Missense_E160A exm837630 10 82098881 [A/T] NM_001269053,NM_138812 DYDC1,DYDC1 EXON Missense_V124D,Missense_V124D exm837634 10 82111731 [A/G] NM_001269053,NM_138812,NR_070308,NR_070309,NM_001270042 DYDC1,DYDC1,DYDC2,DYDC2,DYDC2 EXON Missense_R59C,Missense_R59C,Silent,Silent,Silent exm837640 10 82112279 [T/C] NM_001269053,NM_138812,NR_070308,NR_070309,NM_001270042 DYDC1,DYDC1,DYDC2,DYDC2,DYDC2 EXON Missense_V27M,Missense_V27M,Silent,Silent,Silent exm837644 10 82122269 [T/G] NR_070308,NR_070309,NM_001270042,NM_001270041,NM_032372 DYDC2,DYDC2,DYDC2,DYDC2,DYDC2 EXON Silent,Silent,Missense_V38F,Missense_V24F,Missense_V24F exm837645 10 82122273 [A/G] NR_070308,NR_070309,NM_001270042,NM_001270041,NM_032372 DYDC2,DYDC2,DYDC2,DYDC2,DYDC2 EXON Silent,Silent,Missense_R39Q,Missense_R25Q,Missense_R25Q exm837650 10 82122705 [A/G] NR_070308,NR_070309,NM_001270042,NM_001270041,NM_032372 DYDC2,DYDC2,DYDC2,DYDC2,DYDC2 Silent,Silent,Silent,Silent,Silent exm837651 10 82122746 [A/C] NR_070308,NR_070309,NM_001270042,NM_001270041,NM_032372 DYDC2,DYDC2,DYDC2,DYDC2,DYDC2 EXON Silent,Silent,Missense_S77R,Missense_S63R,Missense_S63R exm837665 10 82126541 [G/C] NR_070308,NR_070309,NM_001270042,NM_001270041,NM_032372 DYDC2,DYDC2,DYDC2,DYDC2,DYDC2 EXON Silent,Silent,Missense_P137R,Missense_P123R,Missense_P123R exm837666 10 82126600 [A/G] NR_070308,NR_070309,NM_001270042,NM_001270041,NM_032372 DYDC2,DYDC2,DYDC2,DYDC2,DYDC2 EXON Silent,Silent,Missense_G157S,Missense_G143S,Missense_G143S exm837677 10 82180344 [C/G] NM_001243779,NM_001243780,NM_001243781,NM_032333,NM_001243782,NM_001243778 FAM213A,FAM213A,FAM213A,FAM213A,FAM213A,FAM213A EXON Missense_P41A,Missense_P41A,Missense_P30A,Missense_P41A,Missense_P37A,Missense_P41A exm837687 10 82185670 [A/G] NM_001243779,NM_001243780,NM_001243781,NM_032333,NM_001243782,NM_001243778 FAM213A,FAM213A,FAM213A,FAM213A,FAM213A,FAM213A EXON Missense_V107I,Missense_V107I,Missense_V96I,Missense_V107I,Missense_V103I,Missense_V107I exm837694 10 82187167 [A/G] NM_001243779,NM_001243780,NM_001243781,NM_032333,NM_001243782,NM_001243778 FAM213A,FAM213A,FAM213A,FAM213A,FAM213A,FAM213A EXON Missense_R164Q,Missense_R164Q,Missense_R153Q,Missense_R164Q,Missense_R160Q,Missense_R164Q exm837697 10 82187211 [T/C] NM_001243779,NM_001243780,NM_001243781,NM_032333,NM_001243782,NM_001243778 FAM213A,FAM213A,FAM213A,FAM213A,FAM213A,FAM213A EXON Missense_F179L,Missense_F179L,Missense_F168L,Missense_F179L,Missense_F175L,Missense_F179L exm837714 10 82269058 [T/C] NM_001128309,NM_030927 TSPAN14,TSPAN14 EXON Silent,Missense_F94S exm837718 10 82269159 [A/G] NM_001128309,NM_030927 TSPAN14,TSPAN14 EXON Silent,Missense_E128K exm837767 10 82298106 [T/C] NM_207372 SH2D4B EXON Missense_H7Y exm837781 10 82329970 [T/C] NM_207372,NM_001145719 SH2D4B,SH2D4B EXON Missense_I82T,Missense_I33T exm837785 10 82330036 [T/C] NM_207372,NM_001145719 SH2D4B,SH2D4B EXON Missense_A104V,Missense_A55V exm837787 10 82330038 [T/C] NM_207372,NM_001145719 SH2D4B,SH2D4B EXON Missense_R105W,Missense_R56W exm837792 10 82331231 [T/C] NM_207372,NM_001145719 SH2D4B,SH2D4B EXON Missense_L131P,Missense_L82P exm837798 10 82331296 [T/G] NM_207372,NM_001145719 SH2D4B,SH2D4B EXON Missense_A153S,Missense_A104S exm837802 10 82348395 [A/G] NM_207372,NM_001145719 SH2D4B,SH2D4B EXON Missense_E169K,Missense_E120K exm837804 10 82348429 [A/G] NM_207372,NM_001145719 SH2D4B,SH2D4B EXON Missense_R180H,Missense_R131H exm2274423 10 82363350 [T/C] NM_207372,NM_001145719 SH2D4B,SH2D4B EXON Missense_A220V,Missense_A171V exm837818 10 82363389 [A/G] NM_207372,NM_001145719 SH2D4B,SH2D4B EXON Missense_R233Q,Missense_R184Q exm837821 10 82363410 [T/C] NM_207372,NM_001145719 SH2D4B,SH2D4B EXON Missense_S240L,Missense_S191L exm837830 10 82363514 [A/G] NM_207372,NM_001145719 SH2D4B,SH2D4B EXON Missense_D275N,Missense_D226N exm837838 10 82369202 [T/C] NM_207372,NM_001145719 SH2D4B,SH2D4B EXON Missense_R294C,Missense_R246C exm837840 10 82369219 [A/T] NM_207372,NM_001145719 SH2D4B,SH2D4B EXON Missense_D299E,Missense_D251E exm837843 10 82369226 [A/G] NM_207372,NM_001145719 SH2D4B,SH2D4B EXON Missense_V302I,Missense_V254I exm837844 10 82369229 [T/C] NM_207372,NM_001145719 SH2D4B,SH2D4B EXON Missense_R303C,Missense_R255C exm2249394 10 82454295 [A/G] exm2259642 10 82568684 [A/G] exm-rs1484170 10 82699491 [T/C] exm2267019 10 82890180 [A/G] exm-rs588517 10 83153246 [T/C] exm2249396 10 83418056 [T/C] exm837876 10 83635544 [A/C] NM_001165972,NM_001010848 NRG3,NRG3 EXON Missense_T150P,Missense_T150P exm837886 10 83635784 [T/G] NM_001165972,NM_001010848 NRG3,NRG3 EXON Missense_A230S,Missense_A230S exm2217557 10 83635785 [T/C] NM_001165972,NM_001010848 NRG3,NRG3 EXON Missense_A230V,Missense_A230V exm2267112 10 83723457 [A/G] NM_001165972,NM_001010848,NM_001165973 NRG3,NRG3,NRG3 Silent,Silent,Silent exm2267020 10 83776091 [A/G] NM_001165972,NM_001010848,NM_001165973 NRG3,NRG3,NRG3 Silent,Silent,Silent exm-rs4933824 10 83819125 [T/G] NM_001165972,NM_001010848,NM_001165973 NRG3,NRG3,NRG3 Silent,Silent,Silent exm2259644 10 84074976 [T/C] NM_001165972,NM_001010848,NM_001165973 NRG3,NRG3,NRG3 Silent,Silent,Silent exm2249398 10 84311992 [A/G] NM_001165972,NM_001010848,NM_001165973 NRG3,NRG3,NRG3 Silent,Silent,Silent exm837912 10 84498398 [T/C] NM_001165972,NM_001010848,NM_001165973 NRG3,NRG3,NRG3 EXON Missense_S340L,Missense_S340L,Missense_S119L exm837917 10 84711247 [T/G] NM_001165972,NM_001010848,NM_001165973 NRG3,NRG3,NRG3 EXON Missense_R358S,Missense_R359S,Missense_R138S exm837921 10 84718718 [C/G] NM_001165972,NM_001010848,NM_001165973 NRG3,NRG3,NRG3 EXON Missense_Q390E,Missense_Q391E,Missense_Q170E exm837923 10 84718798 [T/G] NM_001165972,NM_001010848,NM_001165973 NRG3,NRG3,NRG3 EXON Missense_E416D,Missense_E417D,Missense_E196D exm837931 10 84738707 [A/C] NM_001165972,NM_001010848,NM_001165973 NRG3,NRG3,NRG3 EXON Missense_S471R,Missense_S472R,Missense_S251R exm837945 10 84744883 [A/G] NM_001165972,NM_001010848,NM_001165973 NRG3,NRG3,NRG3 EXON Missense_R537Q,Missense_R538Q,Missense_R341Q exm837948 10 84744926 [A/C] NM_001165972,NM_001010848,NM_001165973 NRG3,NRG3,NRG3 EXON Missense_N551K,Missense_N552K,Missense_N355K exm837957 10 84745185 [T/C] NM_001165972,NM_001010848,NM_001165973 NRG3,NRG3,NRG3 EXON Nonsense_R638X,Nonsense_R639X,Nonsense_R442X exm837962 10 84745221 [A/G] NM_001165972,NM_001010848,NM_001165973 NRG3,NRG3,NRG3 EXON Missense_E650K,Missense_E651K,Missense_E454K exm837963 10 84745233 [A/G] NM_001165972,NM_001010848,NM_001165973 NRG3,NRG3,NRG3 EXON Missense_V654I,Missense_V655I,Missense_V458I exm837969 10 84745302 [T/C] NM_001165972,NM_001010848,NM_001165973 NRG3,NRG3,NRG3 EXON Nonsense_R677X,Nonsense_R678X,Nonsense_R481X exm2271322 10 84944836 [T/C] exm2267022 10 85161251 [A/G] exm-rs2224865 10 85422854 [T/G] exm2271323 10 85763455 [T/C] exm837979 10 85901354 [T/C] NM_014394 GHITM EXON Missense_T33M exm837981 10 85902461 [A/T] NM_014394 GHITM EXON Missense_Q60H exm2249403 10 85902491 [A/G] NM_014394 GHITM EXON Synonymous_S70S exm837985 10 85902491 [A/G] NM_014394 GHITM EXON Synonymous_S70S exm838004 10 85908565 [T/C] NM_014394 GHITM EXON Missense_P188L exm838014 10 85910506 [T/C] NM_014394 GHITM EXON Missense_L275F exm838019 10 85912039 [A/G] NM_014394 GHITM EXON Missense_D325N exm838027 10 85933623 [A/C] NM_207373 C10orf99 EXON Missense_L6I exm838028 10 85936245 [A/G] NM_207373 C10orf99 EXON Missense_R27H exm838036 10 85944485 [A/G] NM_207373 C10orf99 EXON Missense_R70H exm838039 10 85944516 [T/G] NM_207373 C10orf99 EXON Missense_Q80H exm838045 10 85955312 [A/G] NM_033100,NM_001171971 CDHR1,CDHR1 EXON Missense_A40T,Missense_A40T exm838046 10 85955337 [A/C] NM_033100,NM_001171971 CDHR1,CDHR1 EXON Missense_T48N,Missense_T48N exm838048 10 85956268 [A/C] NM_033100,NM_001171971 CDHR1,CDHR1 EXON Missense_H53Q,Missense_H53Q exm838069 10 85960404 [G/C] NM_033100,NM_001171971 CDHR1,CDHR1 EXON Missense_R162S,Missense_R162S exm838072 10 85961584 [A/G] NM_033100,NM_001171971 CDHR1,CDHR1 EXON Missense_V183M,Missense_V183M exm838074 10 85961593 [T/C] NM_033100,NM_001171971 CDHR1,CDHR1 EXON Missense_H186Y,Missense_H186Y exm838076 10 85961608 [T/C] NM_033100,NM_001171971 CDHR1,CDHR1 EXON Missense_R191C,Missense_R191C exm838079 10 85961632 [A/G] NM_033100,NM_001171971 CDHR1,CDHR1 EXON Missense_D199N,Missense_D199N exm1686351 10 85961638 [A/G] NM_033100,NM_001171971 CDHR1,CDHR1 EXON Missense_E201K,Missense_E201K exm838086 10 85962785 [T/C] NM_033100,NM_001171971 CDHR1,CDHR1 EXON Missense_T230I,Missense_T230I exm838088 10 85962796 [A/G] NM_033100,NM_001171971 CDHR1,CDHR1 EXON Missense_V234I,Missense_V234I exm838089 10 85962816 [C/G] NM_033100,NM_001171971 CDHR1,CDHR1 EXON Missense_Q240H,Missense_Q240H exm838091 10 85962824 [T/C] NM_033100,NM_001171971 CDHR1,CDHR1 EXON Missense_A243V,Missense_A243V exm838097 10 85962879 [A/G] NM_033100,NM_001171971 CDHR1,CDHR1 EXON Synonymous_P261P,Synonymous_P261P exm838102 10 85964322 [T/C] NM_033100,NM_001171971 CDHR1,CDHR1 EXON Missense_R275W,Missense_R275W exm838104 10 85964338 [A/G] NM_033100,NM_001171971 CDHR1,CDHR1 EXON Missense_R280Q,Missense_R280Q exm838111 10 85965658 [A/G] NM_033100,NM_001171971 CDHR1,CDHR1 EXON Missense_R313K,Missense_R313K exm838118 10 85968038 [A/G] NM_033100,NM_001171971 CDHR1,CDHR1 EXON Missense_G358R,Missense_G358R exm838120 10 85968099 [A/G] NM_033100,NM_001171971 CDHR1,CDHR1 EXON Missense_R378Q,Missense_R378Q exm838124 10 85968504 [A/G] NM_033100,NM_001171971 CDHR1,CDHR1 EXON Missense_N396S,Missense_N396S exm1686376 10 85970790 [T/C] NM_033100,NM_001171971 CDHR1,CDHR1 EXON Missense_F452L,Missense_F452L exm838132 10 85970836 [T/A] NM_033100,NM_001171971 CDHR1,CDHR1 EXON Missense_D467V,Missense_D467V exm838133 10 85970853 [A/G] NM_033100,NM_001171971 CDHR1,CDHR1 EXON Missense_D473N,Missense_D473N exm838139 10 85970910 [G/C] NM_033100,NM_001171971 CDHR1,CDHR1 EXON Missense_V492L,Missense_V492L exm838144 10 85971975 [C/G] NM_033100,NM_001171971 CDHR1,CDHR1 EXON Missense_P532A,Missense_P532A exm838155 10 85972856 [A/G] NM_033100,NM_001171971 CDHR1,CDHR1 EXON Missense_E598K,Missense_E598K exm838158 10 85972913 [A/G] NM_033100,NM_001171971 CDHR1,CDHR1 EXON Missense_A617T,Missense_A617T exm838161 10 85972932 [A/G] NM_033100,NM_001171971 CDHR1,CDHR1 EXON Missense_N623S,Missense_N623S exm838162 10 85972937 [G/C] NM_033100,NM_001171971 CDHR1,CDHR1 EXON Missense_H625D,Missense_H625D exm838164 10 85972970 [T/C] NM_033100,NM_001171971 CDHR1,CDHR1 EXON Missense_R636C,Missense_R636C exm838170 10 85973046 [A/G] NM_033100,NM_001171971 CDHR1,CDHR1 EXON Missense_R661Q,Missense_R661Q exm838181 10 85973973 [T/C] NM_033100,NM_001171971 CDHR1,CDHR1 EXON Missense_R726C,Silent exm838213 10 85981756 [T/G] NM_001017924 LRIT2 EXON Missense_P525T exm838215 10 85981762 [T/C] NM_001017924 LRIT2 EXON Missense_E523K exm838218 10 85981812 [G/C] NM_001017924 LRIT2 EXON Missense_A506G exm838219 10 85981821 [T/C] NM_001017924 LRIT2 EXON Missense_R503H exm838246 10 85982223 [T/C] NM_001017924 LRIT2 EXON Missense_R369Q exm838254 10 85982347 [T/G] NM_001017924 LRIT2 EXON Missense_M328L exm838263 10 85984179 [A/G] NM_001017924 LRIT2 EXON Nonsense_Q268X exm838264 10 85984188 [A/G] NM_001017924 LRIT2 EXON Missense_R265W exm2276115 10 85984260 [C/G] NM_001017924 LRIT2 EXON Missense_L241V exm838268 10 85984323 [A/G] NM_001017924 LRIT2 EXON Missense_L220F exm838274 10 85984440 [A/G] NM_001017924 LRIT2 EXON Missense_R181W exm838275 10 85984444 [T/G] NM_001017924 LRIT2 EXON Missense_K179N exm838279 10 85984601 [C/G] NM_001017924 LRIT2 EXON Missense_P127R exm838288 10 85984745 [T/C] NM_001017924 LRIT2 EXON Missense_S79N exm838292 10 85985194 [T/C] NM_001017924 LRIT2 EXON Missense_C28Y exm838293 10 85985222 [T/C] NM_001017924 LRIT2 EXON Missense_A19T exm838304 10 85991784 [T/C] NM_015613 LRIT1 EXON Missense_S591G exm838305 10 85991789 [T/C] NM_015613 LRIT1 EXON Missense_R589Q exm838309 10 85991868 [A/C] NM_015613 LRIT1 EXON Missense_D563Y exm838311 10 85991886 [A/G] NM_015613 LRIT1 EXON Nonsense_R557X exm838312 10 85991891 [T/C] NM_015613 LRIT1 EXON Missense_R555H exm1686417 10 85992105 [T/A] NM_015613 LRIT1 EXON Missense_T484S exm838322 10 85992138 [A/G] NM_015613 LRIT1 EXON Missense_R473W exm838329 10 85992195 [T/C] NM_015613 LRIT1 EXON Missense_K454E exm838331 10 85992225 [T/C] NM_015613 LRIT1 EXON Missense_V444M exm838332 10 85992291 [A/G] NM_015613 LRIT1 EXON Missense_R422W exm838347 10 85992632 [A/G] NM_015613 LRIT1 EXON Missense_T308M exm838360 10 85993951 [T/G] NM_015613 LRIT1 EXON Missense_P258Q exm838364 10 85994018 [A/G] NM_015613 LRIT1 EXON Missense_R236C exm838368 10 85994115 [T/C] NM_015613 LRIT1 EXON Nonsense_W203X exm838379 10 85997105 [T/G] NM_015613 LRIT1 EXON Missense_L154M exm838390 10 85997341 [A/G] NM_015613 LRIT1 EXON Missense_P75L exm838396 10 85997424 [G/C] NM_015613 LRIT1 EXON Missense_D47E exm838397 10 86001095 [A/G] NM_015613 LRIT1 EXON Missense_M34T exm838416 10 86007496 [T/C] NM_001012722,NM_002921,NM_001012720 RGR,RGR,RGR EXON Missense_L77F,Missense_L77F,Missense_L77F exm838417 10 86007502 [T/C] NM_001012722,NM_002921,NM_001012720 RGR,RGR,RGR EXON Missense_R79W,Missense_R79C,Missense_R79W exm838422 10 86008691 [A/G] NM_001012722,NM_002921,NM_001012720 RGR,RGR,RGR EXON Missense_G84S,Missense_G88S,Missense_G84S exm838433 10 86012639 [A/G] NM_001012722,NM_002921,NM_001012720 RGR,RGR,RGR EXON Missense_V129I,Missense_V133I,Missense_V129I exm838437 10 86012708 [A/C] NM_001012722,NM_002921,NM_001012720 RGR,RGR,RGR EXON Missense_H152N,Missense_H156N,Missense_H152N exm838440 10 86012747 [T/G] NM_001012722,NM_002921,NM_001012720 RGR,RGR,RGR EXON Missense_D165Y,Missense_D169Y,Missense_D165Y exm2267114 10 86098324 [A/G] NM_018999 CCSER2 Silent exm838465 10 86130899 [T/C] NM_018999 CCSER2 EXON Missense_P31S exm838469 10 86131059 [A/G] NM_018999 CCSER2 EXON Missense_N84S exm838479 10 86131308 [A/G] NM_018999 CCSER2 EXON Missense_N167S exm1686481 10 86131377 [T/C] NM_018999 CCSER2 EXON Missense_A190V exm838484 10 86131445 [A/G] NM_018999 CCSER2 EXON Missense_I213V exm838487 10 86131524 [T/C] NM_018999 CCSER2 EXON Missense_T239I exm838490 10 86131631 [T/C] NM_018999 CCSER2 EXON Missense_R275W exm838492 10 86131671 [A/G] NM_018999 CCSER2 EXON Missense_Y288C exm838497 10 86131746 [T/C] NM_018999 CCSER2 EXON Missense_L313S exm838500 10 86131808 [A/G] NM_018999 CCSER2 EXON Missense_M334V exm838510 10 86132148 [A/G] NM_018999 CCSER2 EXON Missense_Q447R exm838533 10 86198272 [T/A] NM_018999 CCSER2 EXON Missense_S625T exm838537 10 86198432 [A/G] NM_018999 CCSER2 EXON Missense_Q678R exm838546 10 86237331 [A/G] NM_018999 CCSER2 EXON Missense_A746T exm838557 10 86273249 [T/C] NM_018999 CCSER2 EXON Missense_S819P exm838561 10 86273280 [T/C] NM_018999 CCSER2 EXON Missense_T829M exm838562 10 86273285 [T/C] NM_018999 CCSER2 EXON Nonsense_R831X exm2271324 10 86296621 [T/C] exm2267023 10 86611544 [A/G] exm2259648 10 86633900 [A/G] exm2271325 10 87157775 [T/C] exm838578 10 87362238 [T/C] NR_038986,NM_017551 GRID1-AS1,GRID1 EXON Silent,Missense_R941Q exm838597 10 87373271 [T/C] NM_017551 GRID1 EXON Missense_A832T exm838600 10 87373301 [T/C] NM_017551 GRID1 EXON Missense_D822N exm2217575 10 87407146 [T/C] NM_017551 GRID1 EXON Missense_Q669R exm838632 10 87482823 [A/C] NM_017551 GRID1 EXON Missense_C645F exm838644 10 87484156 [A/G] NM_017551 GRID1 EXON Missense_T604I exm838652 10 87484382 [T/C] NM_017551 GRID1 EXON Missense_V529I exm838664 10 87487683 [A/G] NM_017551 GRID1 EXON Missense_P488S exm838667 10 87487760 [T/C] NM_017551 GRID1 EXON Missense_R462H exm838680 10 87489317 [T/C] NM_017551 GRID1 EXON Missense_M430V exm838688 10 87614335 [T/C] NM_017551 GRID1 EXON Missense_R384Q exm838701 10 87628834 [A/G] NM_017551 GRID1 EXON Missense_T295M exm2249408 10 87772933 [A/G] NM_017551 GRID1 Silent exm2259649 10 87862479 [T/C] NM_017551 GRID1 Silent exm838709 10 87898625 [T/C] NM_017551 GRID1 EXON Missense_R226H exm838710 10 87898629 [A/G] NM_017551 GRID1 EXON Missense_R225C exm838712 10 87898670 [A/G] NM_017551 GRID1 EXON Missense_T211M exm838722 10 87966145 [T/C] NM_017551 GRID1 EXON Missense_V166I exm838724 10 87966168 [A/G] NM_017551 GRID1 EXON Missense_T158M exm838725 10 87966198 [T/C] NM_017551 GRID1 EXON Missense_R148H exm838741 10 88126072 [A/G] NM_017551 GRID1 EXON Synonymous_I26I exm838756 10 88206141 [T/A] NM_015045 WAPAL EXON Missense_D1060E exm838758 10 88206187 [T/C] NM_015045 WAPAL EXON Missense_R1045Q exm838771 10 88213414 [A/G] NM_015045 WAPAL EXON Synonymous_N944N exm838774 10 88213529 [G/C] NM_015045 WAPAL EXON Missense_C906S exm838821 10 88259792 [T/G] NM_015045 WAPAL EXON Missense_D403A exm838822 10 88259835 [A/G] NM_015045 WAPAL EXON Missense_P389S exm838824 10 88259879 [T/C] NM_015045 WAPAL EXON Missense_Q374R exm838825 10 88259940 [A/G] NM_015045 WAPAL EXON Missense_R354W exm838826 10 88260150 [T/C] NM_015045 WAPAL EXON Missense_V284I exm838836 10 88260464 [T/C] NM_015045 WAPAL EXON Missense_N179S exm838844 10 88277457 [T/C] NM_015045 WAPAL EXON Missense_V124I exm838850 10 88277664 [T/C] NM_015045 WAPAL EXON Missense_I55V exm-rs12250999 10 88364717 [T/C] exm838855 10 88414554 [T/C] NM_001030015,NM_033282 OPN4,OPN4 EXON Missense_S5L,Missense_S5L exm838857 10 88414569 [T/C] NM_001030015,NM_033282 OPN4,OPN4 EXON Missense_P10L,Missense_P10L exm838872 10 88416963 [A/G] NM_001030015,NM_033282 OPN4,OPN4 EXON Missense_R101H,Silent exm2249410 10 88418245 [T/C] NM_001030015,NM_033282 OPN4,OPN4 EXON Synonymous_C154C,Synonymous_C143C exm838881 10 88418245 [T/C] NM_001030015,NM_033282 OPN4,OPN4 EXON Synonymous_C154C,Synonymous_C143C exm838887 10 88418318 [T/C] NM_001030015,NM_033282 OPN4,OPN4 EXON Missense_R179C,Missense_R168C exm838889 10 88418361 [T/C] NM_001030015,NM_033282 OPN4,OPN4 EXON Missense_A193V,Missense_A182V exm838892 10 88418373 [A/G] NM_001030015,NM_033282 OPN4,OPN4 EXON Missense_R197H,Missense_R186H exm838897 10 88419053 [A/G] NM_001030015,NM_033282 OPN4,OPN4 Silent,Silent exm838917 10 88419700 [T/G] NM_001030015,NM_033282 OPN4,OPN4 EXON Missense_W294C,Missense_W283C exm838941 10 88422062 [A/G] NM_001030015,NM_033282 OPN4,OPN4 EXON Missense_R387H,Missense_R376H exm838949 10 88422116 [T/C] NM_001030015,NM_033282 OPN4,OPN4 EXON Missense_T405I,Missense_T394I exm838954 10 88423492 [A/G] NM_001030015,NM_033282 OPN4,OPN4 EXON Missense_G455D,Missense_G444D exm838964 10 88425498 [T/C] NM_001030015,NM_033282 OPN4,OPN4 EXON Missense_P487L,Missense_P476L exm838975 10 88428502 [T/G] NM_001171610,NM_001080116,NM_007078,NM_001171611,NM_001080115,NM_001080114 LDB3,LDB3,LDB3,LDB3,LDB3,LDB3 EXON Missense_Q18H,Missense_Q18H,Missense_Q18H,Missense_Q18H,Missense_Q18H,Missense_Q18H exm2249411 10 88439177 [A/G] NM_001171610,NM_001080116,NM_007078,NM_001171611,NM_001080115,NM_001080114 LDB3,LDB3,LDB3,LDB3,LDB3,LDB3 EXON Synonymous_V49V,Synonymous_V49V,Synonymous_V49V,Synonymous_V49V,Synonymous_V49V,Synonymous_V49V exm2217586 10 88439190 [A/G] NM_001171610,NM_001080116,NM_007078,NM_001171611,NM_001080115,NM_001080114 LDB3,LDB3,LDB3,LDB3,LDB3,LDB3 EXON Missense_G54S,Missense_G54S,Missense_G54S,Missense_G54S,Missense_G54S,Missense_G54S exm838986 10 88439895 [T/C] NM_001171610,NM_001080116,NM_007078,NM_001171611,NM_001080115,NM_001080114 LDB3,LDB3,LDB3,LDB3,LDB3,LDB3 EXON Missense_P101L,Missense_P101L,Missense_P101L,Missense_P101L,Missense_P101L,Missense_P101L exm838992 10 88441223 [A/G] NM_001171610,NM_001080116,NM_007078,NM_001171611,NM_001080115,NM_001080114 LDB3,LDB3,LDB3,LDB3,LDB3,LDB3 EXON Missense_V118M,Silent,Missense_V118M,Missense_V118M,Missense_V118M,Silent exm839003 10 88441337 [A/G] NM_001171610,NM_001080116,NM_007078,NM_001171611,NM_001080115,NM_001080114 LDB3,LDB3,LDB3,LDB3,LDB3,LDB3 EXON Missense_A156T,Silent,Missense_A156T,Missense_A156T,Missense_A156T,Silent exm839009 10 88441437 [T/C] NM_001171610,NM_001080116,NM_007078,NM_001171611,NM_001080115,NM_001080114 LDB3,LDB3,LDB3,LDB3,LDB3,LDB3 EXON Missense_S189L,Silent,Missense_S189L,Missense_S189L,Missense_S189L,Silent exm839010 10 88441479 [T/C] NM_001171610,NM_001080116,NM_007078,NM_001171611,NM_001080115,NM_001080114 LDB3,LDB3,LDB3,LDB3,LDB3,LDB3 EXON Missense_S203L,Silent,Missense_S203L,Missense_S203L,Missense_S203L,Silent exm839013 10 88441535 [A/G] NM_001171610,NM_001080116,NM_007078,NM_001171611,NM_001080115,NM_001080114 LDB3,LDB3,LDB3,LDB3,LDB3,LDB3 EXON Missense_A222T,Silent,Missense_A222T,Missense_A222T,Missense_A222T,Silent exm839020 10 88446830 [A/G] NM_001171610,NM_001080116,NM_007078,NM_001171611,NM_001080115,NM_001080114 LDB3,LDB3,LDB3,LDB3,LDB3,LDB3 EXON Missense_D232N,Missense_D117N,Silent,Missense_D232N,Silent,Missense_D117N exm839032 10 88451678 [A/G] NM_001171610,NM_001080116,NM_007078,NM_001171611,NM_001080115,NM_001080114 LDB3,LDB3,LDB3,LDB3,LDB3,LDB3 EXON Missense_V307I,Missense_V192I,Missense_V239I,Missense_V307I,Missense_V239I,Missense_V192I exm839034 10 88451715 [A/G] NM_001171610,NM_001080116,NM_007078,NM_001171611,NM_001080115,NM_001080114 LDB3,LDB3,LDB3,LDB3,LDB3,LDB3 EXON Missense_K319R,Missense_K204R,Missense_K251R,Missense_K319R,Missense_K251R,Missense_K204R exm839038 10 88451756 [T/C] NM_001171610,NM_001080116,NM_007078,NM_001171611,NM_001080115,NM_001080114 LDB3,LDB3,LDB3,LDB3,LDB3,LDB3 EXON Missense_R333C,Missense_R218C,Missense_R265C,Missense_R333C,Missense_R265C,Missense_R218C exm2271423 10 88461699 [T/C] NM_001171610,NM_007078,NM_001080114 LDB3,LDB3,LDB3 Silent,Silent,Silent exm839065 10 88466440 [T/C] NM_001171610,NM_007078,NM_001080114 LDB3,LDB3,LDB3 EXON Silent,Missense_T350I,Silent exm839066 10 88466442 [A/G] NM_001171610,NM_007078,NM_001080114 LDB3,LDB3,LDB3 EXON Silent,Missense_T351A,Silent exm839070 10 88469687 [A/G] NM_001171610,NM_007078,NM_001080114 LDB3,LDB3,LDB3 EXON Missense_A376T,Missense_A371T,Missense_A261T exm839102 10 88476312 [A/G] NM_001171610,NM_007078,NM_001080114 LDB3,LDB3,LDB3 EXON Missense_R492H,Missense_R487H,Missense_R377H exm839104 10 88476339 [T/C] NM_001171610,NM_007078,NM_001080114 LDB3,LDB3,LDB3 EXON Missense_F501S,Missense_F496S,Missense_F386S exm839110 10 88476387 [A/C] NM_001171610,NM_007078,NM_001080114 LDB3,LDB3,LDB3 EXON Missense_Q517P,Missense_Q512P,Missense_Q402P exm839117 10 88476492 [A/G] NM_001171610,NM_007078,NM_001080114 LDB3,LDB3,LDB3 EXON Missense_R552Q,Missense_R547Q,Missense_R437Q exm839122 10 88477867 [T/C] NM_001171610,NM_007078,NM_001080114 LDB3,LDB3,LDB3 EXON Missense_P613L,Missense_P608L,Missense_P498L exm839125 10 88478529 [A/G] NM_001171610,NM_007078,NM_001080114 LDB3,LDB3,LDB3 EXON Missense_V640I,Missense_V635I,Missense_V525I exm2217590 10 88485932 [A/G] NM_001171610,NM_007078,NM_001080114 LDB3,LDB3,LDB3 EXON Missense_D678N,Missense_D673N,Missense_D563N exm839137 10 88486007 [A/G] NM_001171610,NM_007078,NM_001080114 LDB3,LDB3,LDB3 EXON Missense_A703T,Missense_A698T,Missense_A588T exm839143 10 88649849 [G/C] NM_004329 BMPR1A EXON Missense_T33S exm2249412 10 88659788 [A/G] NM_004329 BMPR1A EXON Synonymous_P145P exm839153 10 88659788 [A/G] NM_004329 BMPR1A EXON Synonymous_P145P exm839155 10 88659852 [A/G] NM_004329 BMPR1A EXON Missense_M167V exm839185 10 88681437 [T/C] NM_004329 BMPR1A EXON Missense_R443C exm839193 10 88683223 [A/G] NM_004329 BMPR1A EXON Missense_R478H exm839212 10 88696622 [C/G] NM_024756 MMRN2 EXON Missense_V910L exm839217 10 88696698 [A/G] NM_024756 MMRN2 EXON Synonymous_T884T exm2249413 10 88696698 [A/G] NM_024756 MMRN2 EXON Synonymous_T884T exm839222 10 88696750 [T/C] NM_024756 MMRN2 EXON Missense_R867H exm839224 10 88696857 [C/G] NM_024756 MMRN2 EXON Missense_S831R exm839234 10 88702247 [T/C] NM_024756 MMRN2 EXON Missense_N765S exm839236 10 88702350 [G/C] NM_024756 MMRN2 EXON Missense_H731D exm839265 10 88703205 [C/G] NM_024756 MMRN2 EXON Missense_L446V exm839267 10 88703219 [A/G] NM_024756 MMRN2 EXON Missense_T441M exm839273 10 88703358 [A/G] NM_024756 MMRN2 EXON Nonsense_Q395X exm839274 10 88703387 [A/G] NM_024756 MMRN2 EXON Missense_M385T exm839275 10 88703466 [G/C] NM_024756 MMRN2 EXON Missense_G359R exm839285 10 88703732 [T/C] NM_024756 MMRN2 EXON Missense_R270H exm839310 10 88704968 [T/C] NM_024756 MMRN2 EXON Missense_D153G exm839316 10 88705150 [A/G] NM_024756 MMRN2 EXON Missense_T126M exm839328 10 88717154 [T/C] NM_024756 MMRN2 EXON Missense_G49S exm839332 10 88718461 [A/G] NM_003087 SNCG EXON Missense_V3I exm839339 10 88719758 [T/C] NM_003087 SNCG EXON Missense_V55A exm839343 10 88719814 [A/G] NM_003087 SNCG EXON Missense_V74I exm839345 10 88719859 [A/G] NM_003087 SNCG EXON Missense_A89T exm839352 10 88722397 [A/G] NM_003087 SNCG EXON Missense_E110K exm839369 10 88730247 [A/G] NM_006829 ADIRF EXON Missense_A47T exm839372 10 88730271 [A/G] NM_006829 ADIRF EXON Missense_D55N exm839373 10 88730273 [G/C] NM_006829 ADIRF EXON Missense_D55E exm839385 10 88768121 [T/G] NM_133447 AGAP11 EXON Missense_V38L exm839403 10 88768625 [A/G] NM_133447 AGAP11 EXON Missense_M206V exm839407 10 88768746 [A/G] NM_133447 AGAP11 EXON Missense_N246S exm839408 10 88768773 [T/G] NM_133447 AGAP11 EXON Missense_S255I exm1686773 10 88768847 [A/G] NM_133447 AGAP11 EXON Missense_V280I exm839420 10 88768892 [T/C] NM_133447 AGAP11 EXON Missense_R295W exm839529 10 88911874 [A/G] NM_019054 FAM35A EXON Missense_A255T exm839547 10 88930261 [T/C] NM_019054 FAM35A EXON Missense_L554F exm839569 10 88946889 [A/G] NM_019054 FAM35A EXON Missense_R747H exm839621 10 89118023 [A/G] NM_001009610,NR_075100 FAM22D,FAM22D EXON Missense_M1V,Silent exm839673 10 89264860 [A/G] NM_001178117,NM_004897 MINPP1,MINPP1 EXON Missense_G63D,Missense_G63D exm839699 10 89268263 [A/C] NM_001178117,NM_004897,NM_001178118 MINPP1,MINPP1,MINPP1 EXON Missense_Q270K,Missense_Q270K,Missense_Q69K exm2267025 10 89273579 [A/G] NM_001178117,NM_004897,NM_001178118 MINPP1,MINPP1,MINPP1 Silent,Silent,Silent exm839707 10 89311842 [T/C] NM_001178117,NM_004897,NM_001178118 MINPP1,MINPP1,MINPP1 EXON Missense_L280P,Synonymous_S357S,Synonymous_S156S exm839716 10 89312158 [A/G] NM_001178117,NM_004897,NM_001178118 MINPP1,MINPP1,MINPP1 EXON Silent,Missense_K463E,Missense_K262E exm2267116 10 89336834 [A/G] exm-rs9664222 10 89338633 [A/C] exm-rs10887741 10 89443310 [T/C] NM_001015880,NM_004670 PAPSS2,PAPSS2 Silent,Silent exm839723 10 89468953 [A/G] NM_001015880,NM_004670 PAPSS2,PAPSS2 EXON Missense_E10K,Missense_E10K exm839726 10 89469046 [T/C] NM_001015880,NM_004670 PAPSS2,PAPSS2 EXON Nonsense_R41X,Nonsense_R41X exm839731 10 89472880 [A/G] NM_001015880,NM_004670 PAPSS2,PAPSS2 EXON Missense_Y65C,Missense_Y65C exm839732 10 89472888 [T/C] NM_001015880,NM_004670 PAPSS2,PAPSS2 EXON Missense_S68P,Missense_S68P exm2249416 10 89472953 [T/C] NM_001015880,NM_004670 PAPSS2,PAPSS2 EXON Synonymous_L89L,Synonymous_L89L exm839763 10 89475544 [A/G] NM_001015880,NM_004670 PAPSS2,PAPSS2 EXON Missense_G270D,Missense_G270D exm839766 10 89475576 [A/T] NM_001015880,NM_004670 PAPSS2,PAPSS2 EXON Missense_M281L,Missense_M281L exm839772 10 89487046 [A/G] NM_001015880,NM_004670 PAPSS2,PAPSS2 EXON Missense_V296M,Missense_V291M exm839773 10 89487100 [T/C] NM_001015880,NM_004670 PAPSS2,PAPSS2 EXON Missense_R314W,Missense_R309W exm839783 10 89501127 [A/G] NM_001015880,NM_004670 PAPSS2,PAPSS2 EXON Missense_D408N,Missense_D403N exm839790 10 89503310 [T/C] NM_001015880,NM_004670 PAPSS2,PAPSS2 EXON Missense_A468V,Missense_A463V exm839823 10 89516651 [A/G] NM_032810 ATAD1 EXON Missense_V287A exm839827 10 89530709 [A/T] NM_032810 ATAD1 EXON Synonymous_P260P exm839828 10 89530722 [A/T] NM_032810 ATAD1 EXON Missense_H256L exm839852 10 89621800 [T/A] NM_001126049 KLLN EXON Missense_W149R exm839853 10 89621853 [T/C] NM_001126049 KLLN EXON Missense_N131S exm839855 10 89621863 [C/G] NM_001126049 KLLN EXON Missense_R128G exm839868 10 89622196 [T/C] NM_001126049 KLLN EXON Missense_V17I exm839882 10 89690828 [A/G] NM_000314 PTEN EXON Missense_A79T exm-rs7070980 10 89855608 [T/C] exm2264392 10 89912106 [A/C] exm-rs10509540 10 90023033 [T/C] exm839907 10 90034737 [A/G] NM_018363 RNLS EXON Missense_A310V exm2267026 10 90042906 [A/G] NM_018363 RNLS Silent exm839926 10 90122314 [T/C] NM_018363,NM_001031709 RNLS,RNLS EXON Missense_N232S,Missense_N232S exm2217602 10 90122317 [A/C] NM_018363,NM_001031709 RNLS,RNLS EXON Missense_R231L,Missense_R231L exm1686979 10 90122333 [T/C] NM_018363,NM_001031709 RNLS,RNLS EXON Missense_I226V,Missense_I226V exm839929 10 90122360 [T/C] NM_018363,NM_001031709 RNLS,RNLS EXON Missense_S217G,Missense_S217G exm839930 10 90122388 [T/A] NM_018363,NM_001031709 RNLS,RNLS EXON Missense_D207E,Missense_D207E exm839931 10 90122468 [T/G] NM_018363,NM_001031709 RNLS,RNLS EXON Missense_Q181K,Missense_Q181K exm2271424 10 90195149 [T/C] NM_018363,NM_001031709 RNLS,RNLS Silent,Silent exm839937 10 90341359 [A/G] NM_018363,NM_001031709 RNLS,RNLS EXON Missense_I111T,Missense_I111T exm839938 10 90341385 [C/G] NM_018363,NM_001031709 RNLS,RNLS EXON Missense_D102E,Missense_D102E exm839939 10 90341414 [T/C] NM_018363,NM_001031709 RNLS,RNLS EXON Missense_I93V,Missense_I93V exm839942 10 90341438 [T/C] NM_018363,NM_001031709 RNLS,RNLS EXON Missense_V85I,Missense_V85I exm839943 10 90341960 [A/G] NM_018363,NM_001031709 RNLS,RNLS EXON Missense_R75C,Missense_R75C exm839945 10 90341974 [A/G] NM_018363,NM_001031709 RNLS,RNLS EXON Missense_A70V,Missense_A70V exm839952 10 90342837 [G/C] NM_018363,NM_001031709 RNLS,RNLS EXON Missense_E37D,Missense_E37D exm839966 10 90351202 [T/G] NM_001010939 LIPJ EXON Missense_I26S exm839975 10 90353775 [A/G] NM_001010939 LIPJ EXON Missense_N68S exm1686988 10 90353780 [A/T] NM_001010939 LIPJ EXON Missense_S70C exm1686989 10 90353801 [T/G] NM_001010939 LIPJ EXON Missense_D77Y exm839985 10 90354423 [G/C] NM_001010939 LIPJ Silent exm839991 10 90356072 [G/C] NM_001010939 LIPJ EXON Missense_E159Q exm839992 10 90356159 [A/G] NM_001010939 LIPJ EXON Missense_K188E exm839995 10 90356568 [T/G] NM_001010939 LIPJ EXON Missense_F200V exm839996 10 90356584 [T/C] NM_001010939 LIPJ EXON Missense_S205L exm839997 10 90356598 [A/G] NM_001010939 LIPJ EXON Missense_I210V exm839999 10 90356616 [T/C] NM_001010939 LIPJ EXON Missense_P216S exm840000 10 90356658 [A/T] NM_001010939 LIPJ EXON Missense_M230L exm840001 10 90356670 [T/C] NM_001010939 LIPJ EXON Missense_Y234H exm840005 10 90362362 [C/G] NM_001010939 LIPJ EXON Missense_N251K exm840016 10 90366587 [A/G] NM_001010939 LIPJ EXON Missense_I342V exm840021 10 90427109 [T/G] NM_004190,NM_001198830,NM_001198829,NM_001198828 LIPF,LIPF,LIPF,LIPF EXON Missense_G19C,Missense_G29C,Missense_G29C,Missense_G19C exm840041 10 90433345 [T/A] NM_004190,NM_001198830,NM_001198829,NM_001198828 LIPF,LIPF,LIPF,LIPF EXON Missense_F224I,Missense_F201I,Missense_F234I,Missense_F191I exm840049 10 90435346 [T/C] NM_004190,NM_001198830,NM_001198829,NM_001198828 LIPF,LIPF,LIPF,LIPF EXON Missense_R274C,Missense_R251C,Missense_R284C,Missense_R241C exm840050 10 90435347 [A/G] NM_004190,NM_001198830,NM_001198829,NM_001198828 LIPF,LIPF,LIPF,LIPF EXON Missense_R274H,Missense_R251H,Missense_R284H,Missense_R241H exm840055 10 90438259 [A/G] NM_004190,NM_001198830,NM_001198829,NM_001198828 LIPF,LIPF,LIPF,LIPF EXON Missense_G340S,Missense_G317S,Missense_G350S,Missense_G307S exm840056 10 90438283 [A/C] NM_004190,NM_001198830,NM_001198829,NM_001198828 LIPF,LIPF,LIPF,LIPF EXON Missense_P348T,Missense_P325T,Missense_P358T,Missense_P315T exm840062 10 90484376 [T/A] NM_001080518 LIPK EXON Missense_N26Y exm840064 10 90486553 [A/G] NM_001080518 LIPK EXON Missense_S36N exm840066 10 90490895 [T/C] NM_001080518 LIPK EXON Missense_H127Y exm840075 10 90492202 [T/C] NM_001080518 LIPK EXON Missense_L188P exm840076 10 90492227 [T/G] NM_001080518 LIPK EXON Missense_F196L exm840078 10 90492271 [A/T] NM_001080518 LIPK EXON Missense_M211K exm840080 10 90492288 [G/C] NM_001080518 LIPK EXON Missense_L217V exm840081 10 90492297 [T/C] NM_001080518 LIPK EXON Nonsense_R220X exm840082 10 90492298 [A/G] NM_001080518 LIPK EXON Missense_R220Q exm840088 10 90497469 [T/G] NM_001080518 LIPK EXON Missense_K249N exm840091 10 90497480 [A/G] NM_001080518 LIPK EXON Missense_R253H exm840095 10 90499808 [T/G] NM_001080518 LIPK EXON Missense_M291R exm2217607 10 90512278 [C/G] NM_001080518 LIPK EXON Missense_T322R exm840098 10 90512306 [C/G] NM_001080518 LIPK EXON Missense_M331I exm840104 10 90512485 [T/C] NM_001080518 LIPK EXON Missense_I391T exm840110 10 90521971 [A/C] NM_001102469 LIPN EXON Nonsense_Y45X exm840121 10 90524233 [A/T] NM_001102469 LIPN EXON Missense_Y98F exm840124 10 90524335 [T/C] NM_001102469 LIPN EXON Missense_S132L exm840129 10 90528612 [A/G] NM_001102469 LIPN EXON Missense_G200D exm840130 10 90528639 [T/C] NM_001102469 LIPN EXON Missense_T209M exm840131 10 90528646 [T/G] NM_001102469 LIPN EXON Missense_I211M exm840138 10 90530683 [T/C] NM_001102469 LIPN EXON Missense_L252F exm840140 10 90530701 [A/G] NM_001102469 LIPN EXON Missense_E258K exm840151 10 90537864 [G/C] NM_001102469 LIPN EXON Missense_R354S exm840152 10 90537910 [T/G] NM_001102469 LIPN EXON Missense_D370Y exm840156 10 90562705 [A/T] NM_001128215 LIPM EXON Missense_W18R exm840176 10 90574957 [C/G] NM_001128215 LIPM EXON Missense_L229F exm840177 10 90575223 [T/C] NM_001128215 LIPM EXON Missense_L274S exm840187 10 90579993 [A/C] NM_001128215,NM_144590 LIPM,ANKRD22 EXON Missense_T336N,Silent exm840189 10 90580023 [T/C] NM_001128215,NM_144590 LIPM,ANKRD22 EXON Missense_T346M,Silent exm2273465 10 90580144 [T/C] NM_001128215,NM_144590 LIPM,ANKRD22 EXON Synonymous_H386H,Silent exm840196 10 90580238 [T/C] NM_001128215,NM_144590 LIPM,ANKRD22 EXON Missense_R418W,Silent exm840200 10 90582744 [A/C] NM_144590 ANKRD22 EXON Missense_R177I exm840202 10 90583035 [A/C] NM_144590 ANKRD22 Silent exm840207 10 90583092 [T/G] NM_144590 ANKRD22 EXON Missense_Q148P exm840215 10 90585851 [A/C] NM_144590 ANKRD22 EXON Nonsense_E115X exm840222 10 90588380 [A/G] NM_144590 ANKRD22 EXON Missense_T86I exm2217608 10 90588419 [T/C] NM_144590 ANKRD22 EXON Missense_E73G exm840225 10 90591656 [T/C] NM_144590 ANKRD22 EXON Missense_R50Q exm840230 10 90591710 [G/C] NM_144590 ANKRD22 EXON Missense_A32G exm840233 10 90591738 [A/G] NM_144590 ANKRD22 EXON Missense_R23W exm2274426 10 90665270 [A/G] NM_020799 STAMBPL1 EXON Missense_S34N exm840254 10 90670699 [G/C] NM_020799 STAMBPL1 EXON Missense_R117S exm840264 10 90673024 [A/G] NM_020799 STAMBPL1 EXON Missense_S196N exm840266 10 90673047 [A/G] NM_020799 STAMBPL1 EXON Missense_E204K exm840270 10 90673126 [A/C] NM_020799 STAMBPL1 EXON Missense_P230H exm840275 10 90673203 [A/G] NM_020799 STAMBPL1 EXON Missense_S256G exm840289 10 90676486 [T/C] NM_020799 STAMBPL1 EXON Missense_A318V exm840297 10 90682949 [T/G] NM_020799 STAMBPL1 EXON Missense_D427Y exm2217611 10 90697846 [C/G] NM_001613,NM_001141945 ACTA2,ACTA2 EXON Missense_A321G,Missense_A321G exm840311 10 90699265 [A/G] NM_001613,NM_001141945 ACTA2,ACTA2 EXON Synonymous_I269I,Synonymous_I269I exm-rs1926203 10 90727334 [A/C] NM_001141945 ACTA2 Silent exm2267027 10 90759724 [A/G] NR_028036,NR_028033,NM_152872,NR_028035,NR_028034,NM_000043,NM_152871 FAS,FAS,FAS,FAS,FAS,FAS,FAS Silent,Silent,Silent,Silent,Silent,Silent,Silent exm840343 10 90762801 [A/G] NR_028036,NR_028033,NM_152872,NR_028035,NR_028034,NM_000043,NM_152871 FAS,FAS,FAS,FAS,FAS,FAS,FAS EXON Silent,Silent,Missense_A16T,Silent,Silent,Missense_A16T,Missense_A16T exm840356 10 90768676 [T/C] NR_028036,NR_028033,NM_152872,NR_028035,NR_028034,NM_000043,NM_152871 FAS,FAS,FAS,FAS,FAS,FAS,FAS EXON Silent,Silent,Missense_T122I,Silent,Silent,Missense_T122I,Missense_T122I exm840367 10 90770554 [A/G] NR_028036,NR_028033,NM_152872,NR_028035,NR_028034,NM_000043,NM_152871 FAS,FAS,FAS,FAS,FAS,FAS,FAS EXON Silent,Silent,Missense_I184V,Silent,Silent,Missense_I184V,Silent exm-rs2234978 10 90771829 [T/C] NR_028036,NR_028033,NM_152872,NR_028035,NR_028034,NM_000043,NM_152871 FAS,FAS,FAS,FAS,FAS,FAS,FAS EXON Silent,Silent,Synonymous_T214T,Silent,Silent,Synonymous_T214T,Synonymous_T193T exm840374 10 90773115 [A/C] NR_028036,NR_028033,NM_152872,NR_028035,NR_028034,NM_000043,NM_152871 FAS,FAS,FAS,FAS,FAS,FAS,FAS EXON Silent,Silent,Silent,Silent,Silent,Missense_N223H,Missense_N202H exm1687115 10 90773921 [A/C] NR_028036,NR_028033,NM_152872,NR_028035,NR_028034,NM_000043,NM_152871 FAS,FAS,FAS,FAS,FAS,FAS,FAS EXON Silent,Silent,Silent,Silent,Silent,Missense_T241K,Missense_T220K exm840380 10 90774157 [A/G] NR_028036,NR_028033,NM_152872,NR_028035,NR_028034,NM_000043,NM_152871 FAS,FAS,FAS,FAS,FAS,FAS,FAS EXON Silent,Silent,Silent,Silent,Silent,Missense_S320G,Missense_S299G exm-rs1937332 10 90826779 [A/G] exm-rs11203032 10 90964614 [T/G] exm840385 10 90966235 [T/C] NM_003956 CH25H EXON Missense_R272Q exm840410 10 90967042 [A/C] NM_003956 CH25H EXON Missense_C3F exm1687127 10 90974776 [T/C] NM_001127605,NM_000235 LIPA,LIPA EXON Missense_T337A,Missense_T337A exm840425 10 90982268 [T/C] NM_001127605,NM_000235 LIPA,LIPA EXON Synonymous_Q298Q,Synonymous_Q298Q exm840427 10 90982273 [T/C] NM_001127605,NM_000235 LIPA,LIPA EXON Missense_S297G,Missense_S297G exm840431 10 90983509 [A/T] NM_001127605,NM_000235 LIPA,LIPA EXON Missense_I252L,Missense_I252L exm840441 10 90983580 [A/G] NM_001127605,NM_000235 LIPA,LIPA EXON Missense_F228S,Missense_F228S exm840447 10 90984913 [A/G] NM_001127605,NM_000235 LIPA,LIPA EXON Missense_A204V,Missense_A204V exm-rs11203042 10 90989109 [T/C] NM_001127605,NM_000235 LIPA,LIPA Silent,Silent exm-rs2246942 10 91004886 [A/G] NM_001127605,NM_000235 LIPA,LIPA Silent,Silent exm840462 10 91007339 [T/C] NM_001127605,NM_000235 LIPA,LIPA EXON Missense_G23R,Missense_G23R exm840463 10 91007360 [T/G] NM_001127605,NM_000235 LIPA,LIPA EXON Missense_T16P,Missense_T16P exm840465 10 91007400 [T/A] NM_001127605,NM_000235 LIPA,LIPA EXON Missense_K2N,Missense_K2N exm840475 10 91065949 [A/C] NM_001547 IFIT2 EXON Missense_E79A exm840480 10 91066038 [T/C] NM_001547 IFIT2 EXON Nonsense_R109X exm840484 10 91066075 [A/G] NM_001547 IFIT2 EXON Missense_K121R exm840496 10 91066297 [T/G] NM_001547 IFIT2 EXON Missense_I195S exm840504 10 91066446 [C/G] NM_001547 IFIT2 EXON Missense_G245R exm840507 10 91066606 [T/C] NM_001547 IFIT2 EXON Missense_V298A exm840510 10 91066769 [A/C] NM_001547 IFIT2 EXON Missense_D352E exm2273466 10 91067595 [C/G] NM_001547 IFIT2 EXON Silent exm840534 10 91098709 [A/C] NM_001549,NM_001031683 IFIT3,IFIT3 EXON Missense_N99K,Missense_N99K exm840544 10 91098831 [C/G] NM_001549,NM_001031683 IFIT3,IFIT3 EXON Missense_C140S,Missense_C140S exm840554 10 91099028 [A/G] NM_001549,NM_001031683 IFIT3,IFIT3 EXON Missense_N206D,Missense_N206D exm840556 10 91099037 [A/G] NM_001549,NM_001031683 IFIT3,IFIT3 EXON Missense_V209I,Missense_V209I exm840560 10 91099136 [G/C] NM_001549,NM_001031683 IFIT3,IFIT3 EXON Missense_D242H,Missense_D242H exm840561 10 91099145 [T/C] NM_001549,NM_001031683 IFIT3,IFIT3 EXON Missense_R245C,Missense_R245C exm2217617 10 91099254 [T/G] NM_001549,NM_001031683 IFIT3,IFIT3 EXON Missense_I281S,Missense_I281S exm840569 10 91099466 [C/G] NM_001549,NM_001031683 IFIT3,IFIT3 EXON Missense_V352L,Missense_V352L exm840570 10 91099491 [A/C] NM_001549,NM_001031683 IFIT3,IFIT3 EXON Missense_S360Y,Missense_S360Y exm840575 10 91099593 [A/G] NM_001549,NM_001031683 IFIT3,IFIT3 EXON Missense_D394G,Missense_D394G exm1687169 10 91099603 [G/C] NM_001549,NM_001031683 IFIT3,IFIT3 EXON Missense_E397D,Missense_E397D exm840576 10 91099605 [T/C] NM_001549,NM_001031683 IFIT3,IFIT3 EXON Missense_I398T,Missense_I398T exm840582 10 91099646 [T/C] NM_001549,NM_001031683 IFIT3,IFIT3 EXON Nonsense_Q412X,Nonsense_Q412X exm840585 10 91099737 [T/G] NM_001549,NM_001031683 IFIT3,IFIT3 EXON Missense_L442R,Missense_L442R exm840589 10 91099776 [A/G] NM_001549,NM_001031683 IFIT3,IFIT3 EXON Missense_S455N,Missense_S455N exm1687175 10 91143255 [A/C] NM_001010987 IFIT1B EXON Missense_K62T exm840602 10 91143343 [T/A] NM_001010987 IFIT1B EXON Missense_D91E exm840606 10 91143468 [A/G] NM_001010987 IFIT1B EXON Missense_R133H exm840616 10 91143596 [A/G] NM_001010987 IFIT1B EXON Missense_E176K exm840618 10 91143608 [A/G] NM_001010987 IFIT1B EXON Missense_G180R exm840623 10 91143633 [T/C] NM_001010987 IFIT1B EXON Missense_L188P exm840624 10 91143648 [T/C] NM_001010987 IFIT1B EXON Missense_T193I exm840625 10 91143683 [A/G] NM_001010987 IFIT1B EXON Missense_V205I exm840630 10 91143806 [A/C] NM_001010987 IFIT1B EXON Missense_S246R exm840638 10 91143941 [A/G] NM_001010987 IFIT1B EXON Missense_M291V exm840641 10 91143974 [A/G] NM_001010987 IFIT1B EXON Missense_I302V exm840648 10 91144172 [T/C] NM_001010987 IFIT1B EXON Missense_R368C exm840649 10 91144173 [A/G] NM_001010987 IFIT1B EXON Missense_R368H exm840652 10 91144241 [T/C] NM_001010987 IFIT1B EXON Missense_H391Y exm840657 10 91144451 [A/G] NM_001010987 IFIT1B EXON Missense_E461K exm840661 10 91144488 [T/C] NM_001010987 IFIT1B EXON Missense_I473T exm840667 10 91162040 [A/C] NM_001270928,NM_001270927,NM_001270930,NM_001548,NM_001270929 IFIT1,IFIT1,IFIT1,IFIT1,IFIT1 EXON Silent,Missense_T3K,Silent,Missense_T3K,Silent exm840668 10 91162049 [T/A] NM_001270928,NM_001270927,NM_001270930,NM_001548,NM_001270929 IFIT1,IFIT1,IFIT1,IFIT1,IFIT1 EXON Silent,Missense_D6V,Silent,Missense_D6V,Silent exm840670 10 91162075 [G/C] NM_001270928,NM_001270927,NM_001270930,NM_001548,NM_001270929 IFIT1,IFIT1,IFIT1,IFIT1,IFIT1 EXON Silent,Missense_E15Q,Silent,Missense_E15Q,Silent exm840681 10 91162355 [T/C] NM_001270928,NM_001270927,NM_001270930,NM_001548,NM_001270929 IFIT1,IFIT1,IFIT1,IFIT1,IFIT1 EXON Missense_M77T,Missense_M108T,Missense_M77T,Missense_M108T,Missense_M77T exm840686 10 91162508 [A/G] NM_001270928,NM_001270927,NM_001270930,NM_001548,NM_001270929 IFIT1,IFIT1,IFIT1,IFIT1,IFIT1 EXON Missense_R128Q,Missense_R159Q,Missense_R128Q,Missense_R159Q,Missense_R128Q exm840689 10 91162577 [T/C] NM_001270928,NM_001270927,NM_001270930,NM_001548,NM_001270929 IFIT1,IFIT1,IFIT1,IFIT1,IFIT1 EXON Missense_A151V,Missense_A182V,Missense_A151V,Missense_A182V,Missense_A151V exm840690 10 91162592 [A/G] NM_001270928,NM_001270927,NM_001270930,NM_001548,NM_001270929 IFIT1,IFIT1,IFIT1,IFIT1,IFIT1 EXON Missense_R156H,Missense_R187H,Missense_R156H,Missense_R187H,Missense_R156H exm840695 10 91162664 [A/G] NM_001270928,NM_001270927,NM_001270930,NM_001548,NM_001270929 IFIT1,IFIT1,IFIT1,IFIT1,IFIT1 EXON Missense_R180H,Missense_R211H,Missense_R180H,Missense_R211H,Missense_R180H exm840699 10 91162758 [A/C] NM_001270928,NM_001270927,NM_001270930,NM_001548,NM_001270929 IFIT1,IFIT1,IFIT1,IFIT1,IFIT1 EXON Missense_E211D,Missense_E242D,Missense_E211D,Missense_E242D,Missense_E211D exm840703 10 91162811 [T/A] NM_001270928,NM_001270927,NM_001270930,NM_001548,NM_001270929 IFIT1,IFIT1,IFIT1,IFIT1,IFIT1 EXON Missense_F229Y,Missense_F260Y,Missense_F229Y,Missense_F260Y,Missense_F229Y exm840705 10 91162816 [T/C] NM_001270928,NM_001270927,NM_001270930,NM_001548,NM_001270929 IFIT1,IFIT1,IFIT1,IFIT1,IFIT1 EXON Nonsense_R231X,Nonsense_R262X,Nonsense_R231X,Nonsense_R262X,Nonsense_R231X exm1687194 10 91163189 [A/G] NM_001270928,NM_001270927,NM_001270930,NM_001548,NM_001270929 IFIT1,IFIT1,IFIT1,IFIT1,IFIT1 EXON Missense_R355Q,Missense_R386Q,Missense_R355Q,Missense_R386Q,Missense_R355Q exm2217618 10 91163228 [T/G] NM_001270928,NM_001270927,NM_001270930,NM_001548,NM_001270929 IFIT1,IFIT1,IFIT1,IFIT1,IFIT1 EXON Missense_I368S,Missense_I399S,Missense_I368S,Missense_I399S,Missense_I368S exm2217620 10 91163743 [A/G] NM_001270928,NM_001270927,NM_001270930,NM_001548,NM_001270929 IFIT1,IFIT1,IFIT1,IFIT1,IFIT1 EXON Silent,Silent,Silent,Silent,Silent exm840742 10 91177139 [A/C] NM_012420 IFIT5 EXON Missense_K61N exm840743 10 91177152 [G/C] NM_012420 IFIT5 EXON Missense_Q66E exm840748 10 91177231 [A/G] NM_012420 IFIT5 EXON Missense_R92Q exm840749 10 91177251 [A/G] NM_012420 IFIT5 EXON Missense_N99D exm840750 10 91177303 [A/G] NM_012420 IFIT5 EXON Missense_Y116C exm840752 10 91177357 [A/T] NM_012420 IFIT5 EXON Missense_K134M exm840756 10 91177519 [A/G] NM_012420 IFIT5 EXON Missense_D188G exm840765 10 91177764 [A/G] NM_012420 IFIT5 EXON Missense_E270K exm840772 10 91177957 [A/G] NM_012420 IFIT5 EXON Missense_D334G exm840773 10 91177995 [A/G] NM_012420 IFIT5 EXON Missense_M347V exm840777 10 91178052 [T/C] NM_012420 IFIT5 EXON Missense_R366C exm840781 10 91178148 [T/C] NM_012420 IFIT5 EXON Missense_H398Y exm840799 10 91193081 [A/G] NM_213606 SLC16A12 EXON Missense_R431W exm840801 10 91195888 [C/G] NM_213606 SLC16A12 EXON Missense_S406C exm840813 10 91198409 [A/G] NM_213606 SLC16A12 EXON Missense_V327A exm840817 10 91198496 [T/C] NM_213606 SLC16A12 EXON Missense_S298N exm840832 10 91198877 [T/C] NM_213606 SLC16A12 EXON Missense_R171Q exm840834 10 91198917 [A/G] NM_213606 SLC16A12 EXON Missense_S158P exm2271425 10 91218305 [T/C] NM_213606 SLC16A12 Silent exm840843 10 91222239 [T/C] NM_213606 SLC16A12 EXON Missense_K33E exm840844 10 91222287 [A/C] NM_213606 SLC16A12 EXON Missense_W17G exm2267028 10 91275580 [A/G] NM_213606 SLC16A12 Silent exm840868 10 91359190 [T/C] NM_148977,NM_138316,NM_148978 PANK1,PANK1,PANK1 EXON Missense_V377I,Missense_V152I,Missense_V152I exm-rs11185790 10 91372533 [A/G] NM_148977,NM_138316,NM_148978 PANK1,PANK1,PANK1 Silent,Silent,Silent exm2249421 10 91404388 [T/C] NM_148977 PANK1 EXON Synonymous_R224R exm840889 10 91404443 [T/G] NM_148977 PANK1 EXON Missense_P206Q exm840895 10 91404726 [T/C] NM_148977 PANK1 EXON Missense_E112K exm840896 10 91404729 [T/C] NM_148977 PANK1 EXON Missense_G111R exm840905 10 91404954 [T/C] NM_148977 PANK1 EXON Missense_D36N exm840906 10 91405044 [T/C] NM_148977 PANK1 EXON Missense_G6S exm840911 10 91465118 [A/G] NM_016195 KIF20B EXON Missense_A23T exm840913 10 91465167 [A/G] NM_016195 KIF20B EXON Missense_H39R exm840916 10 91468925 [G/C] NM_016195 KIF20B EXON Missense_A50G exm840918 10 91469005 [T/C] NM_016195 KIF20B EXON Missense_S77P exm2217623 10 91469145 [A/G] NM_016195 KIF20B EXON Missense_E93G exm840922 10 91469156 [A/G] NM_016195 KIF20B EXON Missense_I97V exm840929 10 91469729 [A/G] NM_016195 KIF20B EXON Missense_I133V exm840930 10 91469745 [A/G] NM_016195 KIF20B EXON Missense_K138R exm840936 10 91470828 [T/C] NM_016195 KIF20B EXON Missense_Y201H exm840938 10 91470871 [A/G] NM_016195 KIF20B EXON Missense_S215N exm1687267 10 91474851 [A/T] NM_016195 KIF20B EXON Nonsense_Y284X exm1687268 10 91474900 [T/C] NM_016195 KIF20B EXON Missense_R301C exm840960 10 91477234 [A/G] NM_016195 KIF20B EXON Missense_R369H exm840962 10 91477337 [A/T] NM_016195 KIF20B EXON Missense_S377T exm840965 10 91477375 [T/G] NM_016195 KIF20B EXON Missense_K389N exm840968 10 91477454 [A/G] NM_016195 KIF20B EXON Missense_V416I exm840975 10 91479180 [A/G] NM_016195 KIF20B EXON Missense_C480Y exm840981 10 91479211 [T/G] NM_016195 KIF20B EXON Missense_E490D exm840983 10 91479272 [A/G] NM_016195 KIF20B EXON Missense_K511E exm840985 10 91479288 [A/G] NM_016195 KIF20B EXON Missense_K516R exm840990 10 91479399 [T/G] NM_016195 KIF20B EXON Missense_L553R exm840998 10 91484779 [A/C] NM_016195 KIF20B EXON Missense_E622A exm841001 10 91484796 [T/C] NM_016195 KIF20B EXON Nonsense_R628X exm841004 10 91484835 [A/G] NM_016195 KIF20B EXON Missense_I641V exm1687291 10 91487648 [A/G] NM_016195 KIF20B EXON Missense_N716D exm841015 10 91488951 [A/G] NM_016195 KIF20B EXON Missense_I740V exm841018 10 91488979 [T/A] NM_016195 KIF20B EXON Missense_H749L exm841024 10 91492754 [C/G] NM_016195 KIF20B EXON Nonsense_S789X exm841029 10 91497195 [A/C] NM_016195 KIF20B EXON Missense_E826A exm841032 10 91497209 [A/G] NM_016195 KIF20B EXON Missense_I831V exm841035 10 91497263 [A/G] NM_016195 KIF20B EXON Missense_A849T exm841038 10 91497300 [A/G] NM_016195 KIF20B EXON Missense_E861G exm841040 10 91497409 [T/G] NM_016195 KIF20B EXON Missense_Q897H exm841041 10 91497440 [T/C] NM_016195 KIF20B EXON Missense_H908Y exm1687303 10 91497521 [A/G] NM_016195 KIF20B EXON Missense_I935V exm841046 10 91497562 [A/C] NM_016195 KIF20B EXON Missense_K948N exm841051 10 91497605 [A/G] NM_016195 KIF20B EXON Missense_N963D exm841052 10 91497623 [T/C] NM_016195 KIF20B EXON Missense_L969F exm841053 10 91497631 [A/T] NM_016195 KIF20B EXON Missense_D971E exm1687305 10 91497822 [A/G] NM_016195 KIF20B EXON Missense_S1035N exm841072 10 91497912 [A/G] NM_016195 KIF20B EXON Missense_K1065R exm841073 10 91497961 [A/G] NM_016195 KIF20B EXON Missense_I1081M exm841075 10 91497977 [G/C] NM_016195 KIF20B EXON Missense_E1087Q exm841079 10 91498041 [T/C] NM_016195 KIF20B EXON Missense_A1108V exm841085 10 91498175 [A/G] NM_016195 KIF20B EXON Missense_I1153V exm841089 10 91498232 [T/G] NM_016195 KIF20B EXON Missense_V1172F exm841092 10 91498254 [A/G] NM_016195 KIF20B EXON Missense_N1179S exm841099 10 91498716 [T/C] NM_016195 KIF20B EXON Synonymous_L1220L exm841101 10 91498797 [A/G] NM_016195 KIF20B EXON Missense_D1247N exm841102 10 91498808 [T/G] NM_016195 KIF20B EXON Missense_E1250D exm841104 10 91503578 [A/G] NM_016195 KIF20B EXON Missense_R1270H exm841121 10 91511198 [A/C] NM_016195 KIF20B EXON Missense_K1358Q exm841126 10 91512410 [T/G] NM_016195 KIF20B EXON Missense_V1397L exm2274427 10 91514423 [A/G] NM_016195 KIF20B EXON Missense_N1459S exm841137 10 91518638 [T/C] NM_016195 KIF20B EXON Missense_I1520T exm841141 10 91520368 [A/T] NM_016195 KIF20B EXON Missense_F1549Y exm841149 10 91522548 [A/G] NM_016195 KIF20B EXON Missense_K1609E exm841150 10 91522558 [A/G] NM_016195 KIF20B EXON Missense_K1612R exm841151 10 91522564 [A/G] NM_016195 KIF20B EXON Missense_R1614Q exm841155 10 91528087 [G/C] NM_016195 KIF20B EXON Missense_R1637T exm841157 10 91528504 [T/C] NM_016195 KIF20B EXON Missense_R1661C exm841164 10 91532456 [A/G] NM_016195 KIF20B EXON Missense_I1711M exm841167 10 91532536 [A/G] NM_016195 KIF20B EXON Missense_R1738Q exm841172 10 91532574 [A/G] NM_016195 KIF20B EXON Missense_I1751V exm841173 10 91532586 [A/G] NM_016195 KIF20B EXON Missense_V1755M exm841174 10 91533741 [A/G] NM_016195 KIF20B EXON Missense_Q1760R exm2249422 10 91743629 [A/G] exm2271328 10 92090566 [T/C] exm841182 10 92503400 [G/C] NM_019860,NM_019859,NM_000872 HTR7,HTR7,HTR7 EXON Silent,Missense_P448R,Silent exm1687342 10 92503408 [G/C] NM_019860,NM_019859,NM_000872 HTR7,HTR7,HTR7 EXON Silent,Missense_K445N,Silent exm841190 10 92508879 [T/C] NM_019860,NM_019859,NM_000872 HTR7,HTR7,HTR7 EXON Missense_V338M,Missense_V338M,Missense_V338M exm841194 10 92509052 [T/C] NM_019860,NM_019859,NM_000872 HTR7,HTR7,HTR7 EXON Missense_R280Q,Missense_R280Q,Missense_R280Q exm841195 10 92509055 [A/G] NM_019860,NM_019859,NM_000872 HTR7,HTR7,HTR7 EXON Missense_P279L,Missense_P279L,Missense_P279L exm841220 10 92617423 [T/C] NM_019860,NM_019859,NM_000872 HTR7,HTR7,HTR7 EXON Missense_M2I,Missense_M2I,Missense_M2I exm841230 10 92631775 [T/C] NM_001104546,NM_006413 RPP30,RPP30 EXON Missense_A11V,Missense_A11V exm841231 10 92631778 [A/G] NM_001104546,NM_006413 RPP30,RPP30 EXON Missense_G12D,Missense_G12D exm841246 10 92635830 [T/C] NM_001104546,NM_006413 RPP30,RPP30 EXON Missense_S82L,Missense_S82L exm841258 10 92654622 [A/C] NM_001104546,NM_006413 RPP30,RPP30 EXON Missense_N175H,Missense_N175H exm841272 10 92656101 [A/G] NM_001104546,NM_006413 RPP30,RPP30 EXON Missense_A217T,Missense_A217T exm841277 10 92660390 [A/G] NM_001104546,NM_006413 RPP30,RPP30 EXON Missense_D254G,Missense_D254G exm841294 10 92675311 [T/C] NM_014391 ANKRD1 EXON Missense_I280V exm841295 10 92675322 [A/G] NM_014391 ANKRD1 EXON Missense_A276V exm841298 10 92675331 [A/G] NM_014391 ANKRD1 EXON Missense_M273T exm1687401 10 92678626 [A/T] NM_014391 ANKRD1 EXON Missense_D150V exm841312 10 92678658 [T/G] NM_014391 ANKRD1 EXON Missense_F139L exm841315 10 92678707 [A/G] NM_014391 ANKRD1 EXON Missense_T123M exm841318 10 92678728 [A/G] NM_014391 ANKRD1 EXON Missense_T116M exm841321 10 92678914 [A/C] NM_014391 ANKRD1 EXON Missense_V107L exm841322 10 92678920 [A/G] NM_014391 ANKRD1 EXON Missense_P105S exm841326 10 92679936 [T/C] NM_014391 ANKRD1 EXON Missense_R66Q exm841329 10 92679946 [T/C] NM_014391 ANKRD1 EXON Missense_E63K exm841333 10 92679985 [G/C] NM_014391 ANKRD1 EXON Missense_A50P exm2249426 10 92680025 [A/G] NM_014391 ANKRD1 EXON Synonymous_A36A exm841337 10 92680025 [A/G] NM_014391 ANKRD1 EXON Synonymous_A36A exm2249427 10 92799087 [A/G] exm2267031 10 92905682 [A/G] exm2259655 10 92944658 [A/G] NR_046435,NM_001257101 PCGF5,PCGF5 Silent,Silent exm841365 10 93021089 [A/G] NM_001257101,NM_001256549,NM_032373 PCGF5,PCGF5,PCGF5 EXON Missense_M161V,Missense_M161V,Missense_M161V exm-rs2631681 10 93032943 [T/C] NM_001257101,NM_001256549,NM_032373 PCGF5,PCGF5,PCGF5 Silent,Silent,Silent exm841371 10 93170250 [G/C] NR_024467,NM_173497,NM_182765 LOC100188947,HECTD2,HECTD2 EXON Silent,Missense_P19A,Missense_P19A exm841376 10 93185081 [G/C] NR_024467,NM_173497,NM_182765 LOC100188947,HECTD2,HECTD2 EXON Silent,Missense_S61T,Missense_S61T exm841384 10 93220242 [A/T] NR_024467,NM_173497,NM_182765 LOC100188947,HECTD2,HECTD2 EXON Silent,Missense_D109E,Missense_D109E exm841389 10 93220285 [A/G] NR_024467,NM_173497,NM_182765 LOC100188947,HECTD2,HECTD2 EXON Silent,Missense_I124V,Missense_I124V exm841392 10 93221018 [A/G] NR_024467,NM_173497,NM_182765 LOC100188947,HECTD2,HECTD2 EXON Silent,Missense_V139I,Missense_V139I exm841397 10 93221856 [A/G] NR_024467,NM_173497,NM_182765 LOC100188947,HECTD2,HECTD2 EXON Silent,Missense_D172G,Missense_D172G exm841399 10 93221951 [A/G] NR_024467,NM_173497,NM_182765 LOC100188947,HECTD2,HECTD2 EXON Silent,Missense_M204V,Silent exm841408 10 93244322 [T/C] NR_024467,NM_182765 LOC100188947,HECTD2 EXON Silent,Missense_R294C exm841416 10 93250996 [A/G] NR_024467,NM_182765 LOC100188947,HECTD2 EXON Silent,Missense_D411N exm841437 10 93258896 [A/C] NR_024467,NM_182765 LOC100188947,HECTD2 EXON Silent,Missense_N647H exm-rs1329650 10 93348120 [T/G] NR_024467 LOC100188947 Silent exm841454 10 93389826 [A/G] NM_005398 PPP1R3C EXON Missense_A271V exm841459 10 93390009 [A/C] NM_005398 PPP1R3C EXON Missense_G210V exm841463 10 93390069 [A/G] NM_005398 PPP1R3C EXON Missense_F190S exm841464 10 93390097 [G/C] NM_005398 PPP1R3C EXON Missense_E181Q exm841475 10 93390240 [T/G] NM_005398 PPP1R3C EXON Missense_N133T exm841477 10 93390293 [A/C] NM_005398 PPP1R3C EXON Missense_D115E exm841479 10 93390313 [A/C] NM_005398 PPP1R3C EXON Missense_A109S exm-rs1592051 10 93542186 [T/C] exm841495 10 93558521 [T/C] NM_025235 TNKS2 EXON Missense_A25V exm841503 10 93572811 [A/G] NM_025235 TNKS2 EXON Missense_G91S exm2249429 10 93579279 [T/C] NM_025235 TNKS2 EXON Synonymous_L200L exm841533 10 93582102 [A/G] NM_025235 TNKS2 EXON Missense_T260A exm841544 10 93588095 [T/C] NM_025235 TNKS2 EXON Nonsense_R346X exm841546 10 93588135 [A/G] NM_025235 TNKS2 EXON Missense_K359R exm841557 10 93593628 [T/C] NM_025235 TNKS2 EXON Missense_L432F exm841566 10 93600354 [A/C] NM_025235 TNKS2 EXON Missense_I522L exm841571 10 93600414 [A/G] NM_025235 TNKS2 EXON Missense_V542M exm841596 10 93609301 [A/G] NM_025235 TNKS2 EXON Missense_V882I exm841600 10 93610976 [T/A] NM_025235 TNKS2 EXON Missense_T900S exm841622 10 93622748 [A/G] NM_025235 TNKS2 EXON Missense_D1165N exm2271329 10 93655509 [T/C] exm841627 10 93667966 [T/C] NM_152429 FGFBP3 EXON Missense_N254S exm841628 10 93668000 [T/C] NM_152429 FGFBP3 EXON Missense_E243K exm841633 10 93668110 [T/A] NM_152429 FGFBP3 EXON Missense_E206V exm841649 10 93668408 [T/C] NM_152429 FGFBP3 EXON Missense_A107T exm841654 10 93668626 [T/C] NM_152429 FGFBP3 EXON Missense_S34N exm841657 10 93668692 [A/G] NM_152429 FGFBP3 EXON Missense_P12L exm841678 10 93711300 [T/G] NM_003972 BTAF1 EXON Missense_A181S exm841685 10 93716331 [A/G] NM_003972 BTAF1 EXON Missense_A250T exm841688 10 93718889 [T/C] NM_003972 BTAF1 EXON Missense_M323T exm2249431 10 93719797 [T/C] NM_003972 BTAF1 EXON Synonymous_N383N exm841698 10 93722298 [A/G] NM_003972 BTAF1 EXON Missense_V423I exm1687576 10 93740248 [T/C] NM_003972 BTAF1 EXON Missense_M563T exm841711 10 93741972 [A/G] NM_003972 BTAF1 EXON Missense_M680V exm841721 10 93748917 [A/G] NM_003972 BTAF1 EXON Missense_T812A exm841730 10 93749211 [A/G] NM_003972 BTAF1 EXON Missense_T910A exm841731 10 93749218 [T/C] NM_003972 BTAF1 EXON Missense_T912M exm841736 10 93749298 [T/C] NM_003972 BTAF1 EXON Missense_C939R exm841740 10 93751989 [A/T] NM_003972 BTAF1 EXON Missense_T990S exm841748 10 93753592 [A/G] NM_003972 BTAF1 EXON Missense_I1063V exm841749 10 93753596 [A/C] NM_003972 BTAF1 EXON Missense_N1064T exm841754 10 93754378 [A/G] NM_003972 BTAF1 EXON Missense_M1096V exm841803 10 93778652 [A/G] NM_003972 BTAF1 EXON Missense_H1608R exm841815 10 93784696 [C/G] NM_003972 BTAF1 EXON Missense_P1683A exm841817 10 93784724 [A/G] NM_003972 BTAF1 EXON Missense_R1692Q exm841838 10 93811989 [T/C] NM_014912,NM_001178137 CPEB3,CPEB3 EXON Missense_V693I,Missense_V679I exm841853 10 93870839 [T/G] NM_014912,NM_001178137 CPEB3,CPEB3 EXON Missense_D522E,Missense_D508E exm841862 10 93904779 [T/C] NM_014912,NM_001178137 CPEB3,CPEB3 EXON Missense_R429H,Missense_R415H exm841867 10 93940771 [A/T] NM_014912,NM_001178137 CPEB3,CPEB3 EXON Missense_M391L,Missense_M368L exm-rs10882029 10 93955851 [A/G] NM_014912,NM_001178137 CPEB3,CPEB3 Silent,Silent exm841898 10 93999797 [A/G] NM_014912,NM_001178137 CPEB3,CPEB3 EXON Missense_S104L,Missense_S104L exm841907 10 93999956 [T/C] NM_014912,NM_001178137 CPEB3,CPEB3 EXON Missense_S51N,Missense_S51N exm841918 10 94070914 [A/G] NM_017824 MARCH5 EXON Missense_T20A exm2267032 10 94090498 [A/G] NM_017824 MARCH5 Silent exm841922 10 94100444 [A/G] NM_017824 MARCH5 EXON Missense_V85I exm841923 10 94100460 [A/G] NM_017824 MARCH5 EXON Missense_D90G exm1687684 10 94110926 [T/C] NM_017824 MARCH5 EXON Missense_R267C exm2267118 10 94116233 [A/G] exm841942 10 94215365 [T/C] NM_001165946,NM_004969 IDE,IDE EXON Missense_I423V,Missense_I978V exm841951 10 94223617 [T/C] NM_001165946,NM_004969 IDE,IDE EXON Missense_T323A,Missense_T878A exm841967 10 94228731 [A/G] NM_001165946,NM_004969 IDE,IDE EXON Missense_M187T,Missense_M742T exm841973 10 94234655 [A/G] NM_001165946,NM_004969 IDE,IDE EXON Missense_R132C,Missense_R687C exm841996 10 94250252 [T/C] NM_001165946,NM_004969 IDE,IDE EXON Silent,Missense_K511E exm842001 10 94250311 [T/C] NM_001165946,NM_004969 IDE,IDE EXON Silent,Missense_R491H exm842014 10 94267880 [G/C] NM_004969 IDE EXON Missense_E381D exm842015 10 94267953 [T/C] NM_004969 IDE EXON Missense_N357S exm1687730 10 94274683 [T/C] NM_004969 IDE EXON Missense_G260S exm842027 10 94291530 [T/A] NM_004969 IDE EXON Missense_K212N exm-rs6583826 10 94347830 [A/G] exm842061 10 94366137 [A/G] NM_004523 KIF11 EXON Missense_T65A exm842076 10 94373301 [C/G] NM_004523 KIF11 EXON Missense_I319M exm1687771 10 94392326 [A/C] NM_004523 KIF11 EXON Missense_H526Q exm842093 10 94393383 [A/G] NM_004523 KIF11 EXON Missense_N569S exm842097 10 94393493 [A/G] NM_004523 KIF11 EXON Missense_M606V exm1687774 10 94393494 [T/C] NM_004523 KIF11 EXON Missense_M606T exm842098 10 94396944 [T/G] NM_004523 KIF11 EXON Missense_V627L exm1687776 10 94396989 [G/C] NM_004523 KIF11 EXON Missense_P642A exm842102 10 94397017 [A/G] NM_004523 KIF11 EXON Missense_N651S exm842104 10 94397186 [C/G] NM_004523 KIF11 EXON Missense_L682V exm842107 10 94397248 [T/G] NM_004523 KIF11 EXON Missense_K702N exm842109 10 94397295 [T/A] NM_004523 KIF11 EXON Missense_H718L exm842112 10 94405224 [T/C] NM_004523 KIF11 EXON Missense_T791I exm842116 10 94405364 [A/C] NM_004523 KIF11 EXON Missense_N838H exm842118 10 94408026 [T/C] NM_004523 KIF11 EXON Missense_R869C exm842122 10 94408140 [A/T] NM_004523 KIF11 EXON Missense_T907S exm842131 10 94409735 [A/G] NM_004523 KIF11 EXON Missense_T972A exm842136 10 94410251 [A/G] NM_004523 KIF11 EXON Missense_I1006V exm842140 10 94413508 [C/G] NM_004523 KIF11 EXON Missense_L1042F exm842156 10 94452160 [T/C] NM_002729 HHEX EXON Missense_P133S exm842167 10 94454317 [A/G] NM_002729 HHEX EXON Missense_S202N exm1687802 10 94454413 [G/C] NM_002729 HHEX EXON Missense_S234C exm-rs5015480 10 94465559 [T/C] exm-rs2497306 10 94485211 [A/C] exm842179 10 94594565 [A/G] NM_001013848 EXOC6 EXON Missense_V24I exm842183 10 94608319 [T/C] NM_001013848,NM_019053 EXOC6,EXOC6 EXON Silent,Missense_T10I exm842186 10 94608390 [A/C] NM_001013848,NM_019053 EXOC6,EXOC6 EXON Silent,Synonymous_R34R exm842190 10 94653257 [A/G] NM_001013848,NM_019053 EXOC6,EXOC6 EXON Missense_T80A,Missense_T85A exm842194 10 94654709 [T/C] NM_001013848,NM_019053 EXOC6,EXOC6 EXON Missense_I110T,Missense_I115T exm842195 10 94654727 [A/G] NM_001013848,NM_019053 EXOC6,EXOC6 EXON Missense_Q116R,Missense_Q121R exm842197 10 94654755 [A/C] NM_001013848,NM_019053 EXOC6,EXOC6 EXON Missense_E125D,Missense_E130D exm842200 10 94659394 [A/G] NM_001013848,NM_019053 EXOC6,EXOC6 EXON Missense_A146T,Missense_A151T exm842218 10 94675542 [T/C] NM_001013848,NM_019053 EXOC6,EXOC6 EXON Missense_S226P,Missense_S231P exm842226 10 94694132 [A/G] NM_001013848,NM_019053 EXOC6,EXOC6 EXON Missense_D357G,Missense_D362G exm842230 10 94695617 [T/C] NM_001013848,NM_019053 EXOC6,EXOC6 EXON Missense_T391I,Missense_T396I exm842235 10 94700545 [A/G] NM_001013848,NM_019053 EXOC6,EXOC6 EXON Missense_N420S,Missense_N425S exm842246 10 94714402 [T/C] NM_001013848,NM_019053 EXOC6,EXOC6 EXON Synonymous_D509D,Synonymous_D514D exm2249434 10 94714402 [T/C] NM_001013848,NM_019053 EXOC6,EXOC6 EXON Synonymous_D509D,Synonymous_D514D exm842248 10 94714427 [C/G] NM_001013848,NM_019053 EXOC6,EXOC6 EXON Missense_L518V,Missense_L523V exm842250 10 94715366 [A/C] NM_001013848,NM_019053 EXOC6,EXOC6 EXON Missense_H551Q,Missense_H556Q exm842251 10 94715374 [A/G] NM_001013848,NM_019053 EXOC6,EXOC6 EXON Missense_Q554R,Missense_Q559R exm842252 10 94715384 [A/C] NM_001013848,NM_019053 EXOC6,EXOC6 EXON Missense_K557N,Missense_K562N exm842254 10 94715431 [T/C] NM_001013848,NM_019053 EXOC6,EXOC6 EXON Missense_T573I,Missense_T578I exm842261 10 94733904 [T/C] NM_001013848,NM_019053 EXOC6,EXOC6 EXON Missense_S618F,Missense_S623F exm842269 10 94757279 [A/G] NM_001013848,NM_019053 EXOC6,EXOC6 EXON Missense_T663A,Missense_T668A exm842271 10 94757362 [A/G] NM_001013848,NM_019053 EXOC6,EXOC6 EXON Missense_I690M,Missense_I695M exm842287 10 94821204 [A/T] NM_183374 CYP26C1 EXON Missense_T62S exm842298 10 94821903 [G/C] NM_183374 CYP26C1 EXON Missense_R114P exm2249435 10 94821916 [G/C] NM_183374 CYP26C1 EXON Synonymous_P118P exm842301 10 94821918 [A/C] NM_183374 CYP26C1 EXON Missense_Q119P exm842308 10 94822580 [T/C] NM_183374 CYP26C1 EXON Missense_P178L exm842309 10 94822618 [T/C] NM_183374 CYP26C1 EXON Missense_R191C exm842311 10 94822669 [C/G] NM_183374 CYP26C1 EXON Missense_A208P exm842319 10 94824145 [A/G] NM_183374 CYP26C1 EXON Missense_R238Q exm842320 10 94824166 [A/G] NM_183374 CYP26C1 EXON Missense_R245Q exm842322 10 94824200 [A/C] NM_183374 CYP26C1 EXON Missense_H256Q exm842335 10 94825984 [A/G] NM_183374 CYP26C1 EXON Missense_R378H exm842340 10 94826028 [A/G] NM_183374 CYP26C1 EXON Missense_T393A exm842346 10 94828158 [T/C] NM_183374 CYP26C1 EXON Missense_P425S exm2217665 10 94834180 [A/T] NM_057157,NM_000783 CYP26A1,CYP26A1 EXON Missense_L33H,Missense_L102H exm842392 10 94834578 [A/G] NM_057157,NM_000783 CYP26A1,CYP26A1 EXON Missense_V84M,Missense_V153M exm2217666 10 94834581 [T/C] NM_057157,NM_000783 CYP26A1,CYP26A1 EXON Missense_P85S,Missense_P154S exm1687884 10 94834621 [A/G] NM_057157,NM_000783 CYP26A1,CYP26A1 EXON Nonsense_W98X,Nonsense_W167X exm842399 10 94834638 [A/C] NM_057157,NM_000783 CYP26A1,CYP26A1 EXON Missense_R104S,Missense_R173S exm842404 10 94834752 [T/G] NM_057157,NM_000783 CYP26A1,CYP26A1 EXON Missense_V142L,Missense_V211L exm842420 10 94836373 [T/C] NM_057157,NM_000783 CYP26A1,CYP26A1 EXON Missense_C289R,Missense_C358R exm-rs2068888 10 94839642 [A/G] exm842444 10 95069867 [A/G] NM_013451,NM_133337 MYOF,MYOF EXON Synonymous_I2019I,Synonymous_I2006I exm2249436 10 95069867 [A/G] NM_013451,NM_133337 MYOF,MYOF EXON Synonymous_I2019I,Synonymous_I2006I exm842452 10 95072785 [T/C] NM_013451,NM_133337 MYOF,MYOF EXON Missense_V1961I,Missense_V1948I exm842461 10 95072892 [A/G] NM_013451,NM_133337 MYOF,MYOF EXON Missense_P1925L,Missense_P1912L exm842466 10 95072947 [A/G] NM_013451,NM_133337 MYOF,MYOF EXON Missense_R1907C,Missense_R1894C exm842467 10 95076470 [T/C] NM_013451,NM_133337 MYOF,MYOF Silent,Silent exm842468 10 95076472 [G/C] NM_013451,NM_133337 MYOF,MYOF EXON Missense_L1899F,Missense_L1886F exm842472 10 95076502 [T/G] NM_013451,NM_133337 MYOF,MYOF EXON Missense_D1889E,Missense_D1876E exm842474 10 95076542 [T/G] NM_013451,NM_133337 MYOF,MYOF EXON Missense_E1876A,Missense_E1863A exm842476 10 95076554 [A/G] NM_013451,NM_133337 MYOF,MYOF EXON Missense_I1872T,Missense_I1859T exm842478 10 95079636 [A/G] NM_013451,NM_133337 MYOF,MYOF EXON Missense_A1864V,Missense_A1851V exm842481 10 95079675 [A/G] NM_013451,NM_133337 MYOF,MYOF EXON Missense_P1851L,Missense_P1838L exm842487 10 95082842 [T/C] NM_013451,NM_133337 MYOF,MYOF EXON Missense_V1817I,Missense_V1804I exm842493 10 95083039 [T/C] NM_013451,NM_133337 MYOF,MYOF EXON Missense_R1783Q,Missense_R1770Q exm842494 10 95083040 [A/G] NM_013451,NM_133337 MYOF,MYOF EXON Missense_R1783W,Missense_R1770W exm842501 10 95085594 [T/C] NM_013451,NM_133337 MYOF,MYOF EXON Missense_N1754D,Missense_N1741D exm842511 10 95088549 [C/G] NM_013451,NM_133337 MYOF,MYOF EXON Missense_G1701A,Missense_G1688A exm842515 10 95088648 [T/C] NM_013451,NM_133337 MYOF,MYOF EXON Missense_R1668Q,Missense_R1655Q exm842520 10 95089443 [T/C] NM_013451,NM_133337 MYOF,MYOF EXON Missense_G1654S,Missense_G1641S exm842528 10 95093020 [T/C] NM_013451,NM_133337 MYOF,MYOF EXON Missense_R1590Q,Missense_R1577Q exm842537 10 95093619 [A/G] NM_013451,NM_133337 MYOF,MYOF EXON Missense_P1539S,Missense_P1526S exm842539 10 95093631 [T/C] NM_013451,NM_133337 MYOF,MYOF EXON Missense_V1535M,Missense_V1522M exm842544 10 95095728 [A/G] NM_013451,NM_133337 MYOF,MYOF EXON Nonsense_R1505X,Nonsense_R1492X exm1687942 10 95097599 [A/C] NM_013451,NM_133337 MYOF,MYOF EXON Nonsense_Y1470X,Nonsense_Y1457X exm842568 10 95103662 [T/C] NM_013451,NM_133337 MYOF,MYOF EXON Missense_R1426Q,Missense_R1413Q exm842569 10 95103663 [A/G] NM_013451,NM_133337 MYOF,MYOF EXON Missense_R1426W,Missense_R1413W exm1687951 10 95107386 [C/G] NM_013451,NM_133337 MYOF,MYOF EXON Missense_P1413A,Missense_P1400A exm842572 10 95107400 [T/C] NM_013451,NM_133337 MYOF,MYOF EXON Missense_K1408R,Missense_K1395R exm842574 10 95107423 [T/A] NM_013451,NM_133337 MYOF,MYOF EXON Missense_F1400L,Missense_F1387L exm842575 10 95107428 [A/G] NM_013451,NM_133337 MYOF,MYOF EXON Missense_R1399C,Missense_R1386C exm842583 10 95109621 [A/T] NM_013451,NM_133337 MYOF,MYOF EXON Missense_I1343F,Missense_I1330F exm842584 10 95109633 [T/C] NM_013451,NM_133337 MYOF,MYOF EXON Missense_E1339K,Missense_E1326K exm842594 10 95111205 [T/C] NM_013451,NM_133337 MYOF,MYOF EXON Missense_V1263I,Missense_V1250I exm842598 10 95111295 [T/A] NM_013451,NM_133337 MYOF,MYOF EXON Missense_S1233T,Missense_S1220T exm842601 10 95111492 [T/A] NM_013451,NM_133337 MYOF,MYOF EXON Missense_Y1198F,Missense_Y1185F exm842615 10 95113643 [T/C] NM_013451,NM_133337 MYOF,MYOF EXON Missense_V1136I,Missense_V1123I exm1687967 10 95113644 [A/T] NM_013451,NM_133337 MYOF,MYOF EXON Missense_R1135S,Missense_R1122S exm842619 10 95116482 [A/G] NM_013451,NM_133337 MYOF,MYOF EXON Missense_P1082S,Missense_P1069S exm842620 10 95116512 [A/G] NM_013451,NM_133337 MYOF,MYOF EXON Missense_R1072C,Missense_R1059C exm842625 10 95119589 [T/C] NM_013451,NM_133337 MYOF,MYOF Silent,Silent exm842630 10 95119652 [A/G] NM_013451,NM_133337 MYOF,MYOF EXON Missense_R1020W,Missense_R1007W exm842635 10 95121243 [T/C] NM_013451,NM_133337 MYOF,MYOF EXON Nonsense_W980X,Nonsense_W967X exm842637 10 95121311 [T/C] NM_013451,NM_133337 MYOF,MYOF EXON Missense_G958S,Missense_G945S exm842640 10 95123718 [T/C] NM_013451,NM_133337 MYOF,MYOF EXON Synonymous_A956A,Synonymous_A943A exm1687985 10 95123738 [T/C] NM_013451,NM_133337 MYOF,MYOF EXON Missense_E950K,Missense_E937K exm842646 10 95123803 [A/G] NM_013451,NM_133337 MYOF,MYOF EXON Missense_T928M,Missense_T915M exm842678 10 95134707 [A/G] NM_013451,NM_133337 MYOF,MYOF EXON Missense_T705M,Missense_T692M exm842702 10 95147594 [T/A] NM_013451,NM_133337 MYOF,MYOF EXON Missense_K553M,Missense_K540M exm842703 10 95147609 [A/G] NM_013451,NM_133337 MYOF,MYOF EXON Missense_T548I,Missense_T535I exm842709 10 95148875 [A/G] NM_013451,NM_133337 MYOF,MYOF EXON Missense_T498M,Missense_T485M exm842710 10 95148891 [A/C] NM_013451,NM_133337 MYOF,MYOF EXON Missense_V493L,Missense_V480L exm2249437 10 95159025 [T/G] NM_013451,NM_133337 MYOF,MYOF Silent,Silent exm842731 10 95161196 [A/G] NM_013451,NM_133337 MYOF,MYOF EXON Nonsense_R366X,Nonsense_R366X exm842735 10 95161268 [T/C] NM_013451,NM_133337 MYOF,MYOF EXON Missense_D342N,Missense_D342N exm842737 10 95162056 [G/C] NM_013451,NM_133337 MYOF,MYOF EXON Missense_T308S,Missense_T308S exm2249438 10 95163809 [T/G] NM_013451,NM_133337 MYOF,MYOF EXON Synonymous_R272R,Synonymous_R272R exm842753 10 95163966 [T/C] NM_013451,NM_133337 MYOF,MYOF EXON Missense_Y247C,Missense_Y247C exm842759 10 95168648 [A/G] NM_013451,NM_133337 MYOF,MYOF EXON Nonsense_R209X,Nonsense_R209X exm842762 10 95168666 [T/C] NM_013451,NM_133337 MYOF,MYOF EXON Missense_V203I,Missense_V203I exm842766 10 95169364 [T/C] NM_013451,NM_133337 MYOF,MYOF EXON Missense_R189Q,Missense_R189Q exm842780 10 95191218 [T/A] NM_013451,NM_133337 MYOF,MYOF EXON Missense_S98T,Missense_S98T exm842783 10 95191259 [A/G] NM_013451,NM_133337 MYOF,MYOF EXON Missense_A84V,Missense_A84V exm842791 10 95241944 [T/C] NM_013451,NM_133337 MYOF,MYOF EXON Missense_R3Q,Missense_R3Q exm842797 10 95259878 [A/G] NM_001127182,NM_018131 CEP55,CEP55 EXON Missense_E24K,Missense_E24K exm842800 10 95259979 [G/C] NM_001127182,NM_018131 CEP55,CEP55 EXON Missense_H57Q,Missense_H57Q exm842801 10 95259983 [T/C] NM_001127182,NM_018131 CEP55,CEP55 EXON Missense_L59F,Missense_L59F exm842804 10 95262942 [T/C] NM_001127182,NM_018131 CEP55,CEP55 EXON Nonsense_R86X,Nonsense_R86X exm842807 10 95262981 [A/G] NM_001127182,NM_018131 CEP55,CEP55 EXON Missense_T99A,Missense_T99A exm842813 10 95266799 [A/G] NM_001127182,NM_018131 CEP55,CEP55 EXON Missense_I172V,Missense_I172V exm842818 10 95275259 [T/C] NM_001127182,NM_018131 CEP55,CEP55 EXON Missense_T209M,Missense_T209M exm1688061 10 95275273 [A/C] NM_001127182,NM_018131 CEP55,CEP55 EXON Missense_H214N,Missense_H214N exm842820 10 95275274 [A/G] NM_001127182,NM_018131 CEP55,CEP55 EXON Missense_H214R,Missense_H214R exm842823 10 95276692 [A/G] NM_001127182,NM_018131 CEP55,CEP55 EXON Missense_G227D,Missense_G227D exm842826 10 95276718 [T/C] NM_001127182,NM_018131 CEP55,CEP55 EXON Missense_C236R,Missense_C236R exm842829 10 95276742 [C/G] NM_001127182,NM_018131 CEP55,CEP55 EXON Missense_A244P,Missense_A244P exm842834 10 95276905 [A/G] NM_001127182,NM_018131 CEP55,CEP55 EXON Missense_R298K,Missense_R298K exm842835 10 95276973 [A/G] NM_001127182,NM_018131 CEP55,CEP55 EXON Missense_E321K,Missense_E321K exm842838 10 95278683 [A/G] NM_001127182,NM_018131 CEP55,CEP55 EXON Missense_R348K,Missense_R348K exm842844 10 95279482 [A/G] NM_001127182,NM_018131 CEP55,CEP55 EXON Missense_R370H,Missense_R370H exm842845 10 95279506 [T/A] NM_001127182,NM_018131 CEP55,CEP55 EXON Missense_H378L,Missense_H378L exm842853 10 95287789 [A/C] NM_001127182,NM_018131 CEP55,CEP55 EXON Nonsense_S425X,Nonsense_S425X exm842854 10 95287792 [G/C] NM_001127182,NM_018131 CEP55,CEP55 EXON Missense_P426R,Missense_P426R exm842863 10 95326619 [A/G] NM_181745,NM_001195755 FFAR4,FFAR4 EXON Missense_V48M,Missense_V48M exm842865 10 95326676 [T/C] NM_181745,NM_001195755 FFAR4,FFAR4 EXON Missense_R67C,Missense_R67C exm842899 10 95347036 [G/C] NM_181745,NM_001195755 FFAR4,FFAR4 EXON Missense_Q268H,Missense_Q252H exm842900 10 95347041 [A/G] NM_181745,NM_001195755 FFAR4,FFAR4 EXON Missense_R270H,Missense_R254H exm842901 10 95347050 [A/G] NM_181745,NM_001195755 FFAR4,FFAR4 EXON Missense_Q273R,Missense_Q257R exm842903 10 95347071 [A/G] NM_181745,NM_001195755 FFAR4,FFAR4 EXON Missense_R280H,Missense_R264H exm842906 10 95347195 [T/G] NM_181745,NM_001195755 FFAR4,FFAR4 EXON Missense_W321C,Missense_W305C exm842927 10 95353604 [T/G] NM_006744 RBP4 EXON Missense_Q182K exm842930 10 95353620 [A/C] NM_006744 RBP4 EXON Missense_E176D exm842973 10 95372685 [T/C] NM_006204 PDE6C EXON Missense_T68I exm842989 10 95372895 [T/C] NM_006204 PDE6C EXON Missense_L138S exm842992 10 95372928 [T/C] NM_006204 PDE6C EXON Missense_T149M exm842994 10 95372948 [T/C] NM_006204 PDE6C EXON Missense_P156S exm842995 10 95372953 [T/G] NM_006204 PDE6C EXON Missense_D157E exm842997 10 95380411 [T/C] NM_006204 PDE6C EXON Missense_M168T exm2267033 10 95380790 [A/G] NM_006204 PDE6C Silent exm843009 10 95381707 [A/G] NM_006204 PDE6C EXON Missense_N248D exm843010 10 95381756 [T/C] NM_006204 PDE6C EXON Missense_A264V exm843013 10 95381773 [A/T] NM_006204 PDE6C EXON Missense_S270T exm843016 10 95381792 [A/G] NM_006204 PDE6C EXON Missense_R276Q exm-rs2785137 10 95386207 [A/G] NM_006204 PDE6C Silent exm843026 10 95386564 [T/C] NM_006204 PDE6C EXON Missense_T336M exm843036 10 95394606 [A/C] NM_006204 PDE6C EXON Missense_T404K exm843043 10 95395323 [A/G] NM_006204 PDE6C EXON Missense_N447D exm843048 10 95396821 [T/G] NM_006204 PDE6C Silent exm843062 10 95400694 [T/G] NM_006204 PDE6C EXON Missense_K585N exm843068 10 95405754 [A/G] NM_006204 PDE6C EXON Missense_I629V exm843075 10 95418703 [A/G] NM_006204 PDE6C EXON Missense_M694I exm843076 10 95418708 [T/C] NM_006204 PDE6C EXON Missense_T696M exm843089 10 95422894 [T/C] NM_006204 PDE6C EXON Missense_I826T exm843091 10 95422918 [A/G] NM_006204 PDE6C EXON Missense_E834G exm843092 10 95422920 [A/G] NM_006204 PDE6C EXON Missense_G835R exm843098 10 95430585 [T/G] NM_145246 FRA10AC1 EXON Missense_S283R exm843102 10 95436447 [T/C] NM_145246 FRA10AC1 EXON Synonymous_G263G exm843106 10 95441252 [T/G] NM_145246 FRA10AC1 EXON Missense_K258Q exm843108 10 95441272 [A/G] NM_145246 FRA10AC1 EXON Missense_S251F exm843112 10 95443842 [A/T] NM_145246 FRA10AC1 EXON Missense_E213D exm843123 10 95452485 [T/C] NM_145246 FRA10AC1 EXON Missense_E100K exm843126 10 95454673 [T/C] NM_145246 FRA10AC1 EXON Missense_V81I exm843127 10 95454681 [C/G] NM_145246 FRA10AC1 EXON Missense_T78R exm843128 10 95454682 [T/C] NM_145246 FRA10AC1 EXON Missense_T78A exm843135 10 95458136 [A/G] NM_145246 FRA10AC1 EXON Missense_L32S exm843137 10 95458153 [C/G] NM_145246 FRA10AC1 EXON Missense_R26S exm843138 10 95459817 [T/C] NM_145246 FRA10AC1 EXON Missense_R16H exm843141 10 95517902 [A/G] NM_005097 LGI1 EXON Missense_M1V exm843146 10 95518106 [A/G] NM_005097 LGI1 EXON Missense_V69I exm2259659 10 95545378 [T/C] NM_005097 LGI1 Silent exm843162 10 95552653 [T/C] NM_005097 LGI1 EXON Synonymous_F219F exm2249439 10 95552653 [T/C] NM_005097 LGI1 EXON Synonymous_F219F exm843177 10 95556992 [T/C] NM_005097 LGI1 EXON Missense_S369F exm843196 10 95653922 [T/G] NM_001134658,NM_153226 SLC35G1,SLC35G1 EXON Missense_R44S,Missense_R44S exm843202 10 95660535 [A/G] NM_001134658,NM_153226 SLC35G1,SLC35G1 EXON Missense_Q129R,Missense_Q128R exm843203 10 95660576 [A/G] NM_001134658,NM_153226 SLC35G1,SLC35G1 EXON Missense_A143T,Missense_A142T exm843204 10 95660618 [A/G] NM_001134658,NM_153226 SLC35G1,SLC35G1 EXON Missense_A157T,Missense_A156T exm1688206 10 95660642 [A/G] NM_001134658,NM_153226 SLC35G1,SLC35G1 EXON Missense_S165G,Missense_S164G exm843206 10 95660658 [T/C] NM_001134658,NM_153226 SLC35G1,SLC35G1 EXON Missense_T170M,Missense_T169M exm843208 10 95660774 [T/C] NM_001134658,NM_153226 SLC35G1,SLC35G1 EXON Missense_S209P,Missense_S208P exm843211 10 95660784 [T/C] NM_001134658,NM_153226 SLC35G1,SLC35G1 EXON Missense_S212L,Missense_S211L exm843267 10 95791030 [T/C] NM_016341 PLCE1 EXON Missense_A76V exm2274428 10 95791680 [T/G] NM_016341 PLCE1 EXON Missense_A293S exm1688219 10 95791743 [A/G] NM_016341 PLCE1 EXON Missense_A314T exm843295 10 95792004 [T/C] NM_016341 PLCE1 EXON Missense_Y401H exm843298 10 95848918 [A/G] NM_016341,NM_001165979 PLCE1,PLCE1 EXON Silent,Missense_V23M exm843299 10 95848924 [T/C] NM_016341,NM_001165979 PLCE1,PLCE1 EXON Silent,Missense_F25L exm1688225 10 95891952 [A/G] NM_016341,NM_001165979 PLCE1,PLCE1 EXON Missense_E410K,Missense_E102K exm1688227 10 95892037 [T/C] NM_016341,NM_001165979 PLCE1,PLCE1 EXON Missense_V438A,Missense_V130A exm843322 10 95892124 [T/C] NM_016341,NM_001165979 PLCE1,PLCE1 EXON Missense_T467I,Missense_T159I exm843323 10 95892129 [A/T] NM_016341,NM_001165979 PLCE1,PLCE1 EXON Missense_S469T,Missense_S161T exm843330 10 95892196 [A/C] NM_016341,NM_001165979 PLCE1,PLCE1 EXON Missense_T491N,Missense_T183N exm843332 10 95930939 [T/C] NM_016341,NM_001165979 PLCE1,PLCE1 EXON Missense_R499C,Missense_R191C exm1688231 10 95930948 [A/G] NM_016341,NM_001165979 PLCE1,PLCE1 EXON Missense_G502S,Missense_G194S exm843335 10 95930952 [T/C] NM_016341,NM_001165979 PLCE1,PLCE1 EXON Missense_P503L,Missense_P195L exm843338 10 95931011 [A/G] NM_016341,NM_001165979 PLCE1,PLCE1 EXON Missense_I523V,Missense_I215V exm843341 10 95931087 [T/G] NM_016341,NM_001165979 PLCE1,PLCE1 EXON Missense_R548L,Missense_R240L exm843343 10 95931125 [T/C] NM_016341,NM_001165979 PLCE1,PLCE1 EXON Missense_R561W,Missense_R253W exm843346 10 95931173 [A/G] NM_016341,NM_001165979 PLCE1,PLCE1 EXON Missense_A577T,Missense_A269T exm2267034 10 95959384 [A/G] NM_016341,NM_001165979 PLCE1,PLCE1 Silent,Silent exm843351 10 95987105 [A/G] NM_016341,NM_001165979 PLCE1,PLCE1 EXON Missense_M618V,Missense_M310V exm843359 10 95993887 [A/G] NM_016341,NM_001165979 PLCE1,PLCE1 EXON Missense_M678V,Missense_M370V exm843364 10 95994019 [A/G] NM_016341,NM_001165979 PLCE1,PLCE1 EXON Missense_G722S,Missense_G414S exm843374 10 96005710 [A/G] NM_016341,NM_001165979 PLCE1,PLCE1 EXON Missense_I810V,Missense_I502V exm843383 10 96006010 [A/G] NM_016341,NM_001165979 PLCE1,PLCE1 EXON Missense_V910I,Missense_V602I exm843385 10 96006068 [C/G] NM_016341,NM_001165979 PLCE1,PLCE1 EXON Missense_S929T,Missense_S621T exm843392 10 96006281 [A/G] NM_016341,NM_001165979 PLCE1,PLCE1 EXON Missense_S1000N,Missense_S692N exm843394 10 96006364 [A/G] NM_016341,NM_001165979 PLCE1,PLCE1 EXON Missense_V1028I,Missense_V720I exm843398 10 96012109 [T/G] NM_016341,NM_001165979 PLCE1,PLCE1 EXON Missense_A1045S,Missense_A737S exm843401 10 96012173 [A/G] NM_016341,NM_001165979 PLCE1,PLCE1 EXON Missense_K1066R,Missense_K758R exm-rs9419788 10 96013705 [A/G] NM_016341,NM_001165979 PLCE1,PLCE1 Silent,Silent exm843406 10 96014014 [A/G] NM_016341,NM_001165979 PLCE1,PLCE1 EXON Missense_R1116Q,Missense_R808Q exm843421 10 96018597 [A/G] NM_016341,NM_001165979 PLCE1,PLCE1 EXON Missense_G1199S,Missense_G891S exm843447 10 96033398 [A/T] NM_016341,NM_001165979 PLCE1,PLCE1 EXON Missense_D1529V,Missense_D1221V exm-rs11187837 10 96035980 [T/C] NM_016341,NM_001165979 PLCE1,PLCE1 Silent,Silent exm843451 10 96039597 [G/C] NM_016341,NM_001165979,NR_033969 PLCE1,PLCE1,LOC100128054 EXON Missense_R1575P,Missense_R1267P,Silent exm843453 10 96039606 [A/G] NM_016341,NM_001165979,NR_033969 PLCE1,PLCE1,LOC100128054 EXON Missense_N1578S,Missense_N1270S,Silent exm843466 10 96044674 [A/C] NM_016341,NM_001165979,NR_033969 PLCE1,PLCE1,LOC100128054 EXON Missense_P1663T,Missense_P1355T,Silent exm843467 10 96044722 [C/G] NM_016341,NM_001165979,NR_033969 PLCE1,PLCE1,LOC100128054 EXON Missense_G1679R,Missense_G1371R,Silent exm843473 10 96053340 [A/G] NM_016341,NM_001165979 PLCE1,PLCE1 EXON Missense_N1704S,Missense_N1396S exm2217685 10 96058178 [T/C] NM_016341,NM_001165979 PLCE1,PLCE1 EXON Missense_S1737F,Missense_S1429F exm843481 10 96058298 [T/C] NM_016341,NM_001165979 PLCE1,PLCE1 EXON Missense_T1777I,Missense_T1469I exm843488 10 96064281 [A/G] NM_016341,NM_001165979 PLCE1,PLCE1 EXON Missense_G1834D,Missense_G1526D exm843491 10 96066230 [T/C] NM_016341,NM_001165979 PLCE1,PLCE1 EXON Missense_P1890L,Missense_P1582L exm843494 10 96066341 [A/G] NM_016341,NM_001165979 PLCE1,PLCE1 EXON Missense_H1927R,Missense_H1619R exm843495 10 96066343 [A/G] NM_016341,NM_001165979 PLCE1,PLCE1 EXON Missense_V1928I,Missense_V1620I exm-rs3781264 10 96070375 [A/G] NM_016341,NM_001165979 PLCE1,PLCE1 Silent,Silent exm843507 10 96076343 [A/G] NM_016341,NM_001165979 PLCE1,PLCE1 EXON Missense_D2058N,Missense_D1750N exm2217687 10 96081761 [T/C] NM_016341,NM_001165979 PLCE1,PLCE1 EXON Missense_P2149L,Missense_P1841L exm843513 10 96081787 [A/G] NM_016341,NM_001165979 PLCE1,PLCE1 EXON Missense_V2158I,Missense_V1850I exm843514 10 96084122 [A/G] NM_016341,NM_001165979 PLCE1,PLCE1 EXON Missense_K2173R,Missense_K1865R exm843522 10 96084689 [A/G] NM_016341,NM_001165979 PLCE1,PLCE1 EXON Missense_S2254N,Missense_S1946N exm843525 10 96084724 [T/C] NM_016341,NM_001165979 PLCE1,PLCE1 EXON Missense_P2266S,Missense_P1958S exm843536 10 96093965 [A/G] NM_022451 NOC3L EXON Missense_F791S exm843538 10 96094413 [T/C] NM_022451 NOC3L EXON Missense_E751G exm843539 10 96094425 [T/C] NM_022451 NOC3L EXON Missense_N747S exm843546 10 96098373 [T/C] NM_022451 NOC3L EXON Missense_A695T exm843548 10 96098483 [T/G] NM_022451 NOC3L EXON Missense_K658T exm843549 10 96098493 [A/T] NM_022451 NOC3L EXON Missense_T655S exm2217688 10 96099651 [A/C] NM_022451 NOC3L EXON Missense_V603L exm843556 10 96099674 [A/G] NM_022451 NOC3L EXON Missense_A595V exm843567 10 96101502 [T/C] NM_022451 NOC3L EXON Synonymous_K524K exm843572 10 96104663 [A/G] NM_022451 NOC3L EXON Nonsense_R473X exm843573 10 96104665 [T/G] NM_022451 NOC3L EXON Missense_E472A exm843575 10 96106240 [C/G] NM_022451 NOC3L EXON Missense_P444R exm843579 10 96109021 [T/C] NM_022451 NOC3L EXON Missense_E415K exm843584 10 96109888 [T/C] NM_022451 NOC3L EXON Missense_M370I exm1688344 10 96112739 [A/C] NM_022451 NOC3L EXON Missense_V258L exm843604 10 96114731 [T/G] NM_022451 NOC3L EXON Missense_P229T exm843609 10 96114835 [A/G] NM_022451 NOC3L EXON Missense_P194L exm843617 10 96116958 [T/C] NM_022451 NOC3L EXON Missense_I161V exm843620 10 96117038 [T/C] NM_022451 NOC3L EXON Missense_Y134C exm843622 10 96117066 [A/G] NM_022451 NOC3L EXON Missense_R125W exm843623 10 96117074 [A/G] NM_022451 NOC3L EXON Missense_A122V exm843625 10 96117084 [C/G] NM_022451 NOC3L EXON Missense_P119A exm843633 10 96121440 [A/G] NM_022451 NOC3L EXON Missense_P67S exm843637 10 96121503 [T/G] NM_022451 NOC3L EXON Missense_Q46K exm843638 10 96121505 [T/C] NM_022451 NOC3L EXON Missense_E45G exm843639 10 96121511 [T/C] NM_022451 NOC3L EXON Missense_R43Q exm843679 10 96163130 [G/C] NM_015188 TBC1D12 EXON Missense_E254Q exm843696 10 96253141 [A/G] NM_015188 TBC1D12 EXON Missense_V411M exm843701 10 96256843 [C/G] NM_015188 TBC1D12 EXON Missense_I442M exm1688374 10 96271407 [T/G] NM_015188 TBC1D12 EXON Missense_G586V exm843723 10 96305680 [T/C] NM_018063 HELLS EXON Missense_M1T exm843728 10 96313886 [T/C] NM_018063 HELLS EXON Missense_R53C exm843729 10 96313908 [T/C] NM_018063 HELLS EXON Missense_S60L exm843730 10 96313926 [A/G] NM_018063 HELLS EXON Missense_R66H exm843735 10 96322448 [A/G] NM_018063 HELLS EXON Missense_G112S exm843741 10 96322608 [A/G] NM_018063 HELLS EXON Missense_N137S exm843750 10 96336443 [A/G] NM_018063 HELLS EXON Missense_T305A exm843752 10 96336522 [T/C] NM_018063 HELLS EXON Missense_T331M exm843759 10 96342748 [G/C] NM_018063 HELLS EXON Missense_L420V exm843767 10 96350218 [A/G] NM_018063 HELLS EXON Missense_R513G exm843783 10 96352271 [T/C] NM_018063 HELLS EXON Synonymous_N657N exm843788 10 96354545 [A/G] NM_018063 HELLS EXON Missense_I728V exm843796 10 96361308 [A/G] NM_018063 HELLS EXON Missense_I816V exm843798 10 96361354 [T/A] NM_018063 HELLS EXON Missense_D831V exm-rs12772169 10 96405329 [T/C] exm-rs12777823 10 96405502 [A/G] exm843816 10 96447920 [T/C] NM_000772,NM_001128925 CYP2C18,CYP2C18 EXON Missense_R124W,Missense_R124W exm843828 10 96454755 [A/G] NM_000772,NM_001128925 CYP2C18,CYP2C18 EXON Missense_D188G,Missense_D188G exm843830 10 96454797 [A/G] NM_000772,NM_001128925 CYP2C18,CYP2C18 EXON Missense_N202S,Missense_N202S exm2249444 10 96466700 [T/C] NM_000772,NM_001128925 CYP2C18,CYP2C18 EXON Synonymous_L268L,Silent exm843840 10 96466700 [T/C] NM_000772,NM_001128925 CYP2C18,CYP2C18 EXON Synonymous_L268L,Silent exm843843 10 96480158 [T/G] NM_000772,NM_001128925 CYP2C18,CYP2C18 EXON Missense_K275N,Missense_K216N exm843844 10 96480229 [T/C] NM_000772,NM_001128925 CYP2C18,CYP2C18 EXON Missense_T299I,Missense_T240I exm843849 10 96484129 [T/G] NM_000772,NM_001128925 CYP2C18,CYP2C18 EXON Missense_V330L,Missense_V271L exm843851 10 96484153 [T/C] NM_000772,NM_001128925 CYP2C18,CYP2C18 EXON Missense_C338R,Missense_C279R exm843860 10 96493058 [T/C] NM_000772,NM_001128925 CYP2C18,CYP2C18 EXON Missense_T385M,Missense_T326M exm843871 10 96495052 [T/C] NM_000772,NM_001128925 CYP2C18,CYP2C18 EXON Missense_R442C,Missense_R383C exm843872 10 96495053 [T/G] NM_000772,NM_001128925 CYP2C18,CYP2C18 EXON Missense_R442L,Missense_R383L exm843876 10 96495161 [A/G] NM_000772,NM_001128925 CYP2C18,CYP2C18 EXON Missense_R478H,Missense_R419H exm2271332 10 96500106 [T/C] exm843895 10 96534863 [T/C] NM_000769 CYP2C19 EXON Missense_R73C exm843896 10 96534887 [A/G] NM_000769 CYP2C19 EXON Missense_E81K exm843903 10 96535173 [T/C] NM_000769 CYP2C19 EXON Missense_W120R exm843922 10 96535296 [C/G] NM_000769 CYP2C19 EXON Missense_A161P exm843929 10 96540410 [A/G] NM_000769 CYP2C19 EXON Nonsense_W212X exm843930 10 96541615 [T/C] NM_000769 CYP2C19 EXON Missense_P227L exm-rs12767583 10 96547463 [T/C] NM_000769 CYP2C19 Silent exm2267120 10 96563757 [A/G] NM_000769 CYP2C19 Silent exm843958 10 96609752 [T/C] NM_000769 CYP2C19 EXON Missense_R410C exm843975 10 96612671 [A/C] NM_000769 CYP2C19 EXON Missense_X491C exm843980 10 96698453 [T/C] NM_000771 CYP2C9 EXON Missense_V5A exm-rs1799853 10 96702047 [T/C] NM_000771 CYP2C9 EXON Missense_R144C exm-rs4086116 10 96707202 [T/C] NM_000771 CYP2C9 Silent exm844029 10 96708974 [A/G] NM_000771 CYP2C9 EXON Missense_H251R exm844034 10 96731876 [A/C] NM_000771 CYP2C9 EXON Missense_P279T exm-rs10509680 10 96734339 [T/G] NM_000771 CYP2C9 Silent exm844046 10 96741053 [A/C] NM_000771 CYP2C9 EXON Missense_I359L exm844050 10 96741066 [T/C] NM_000771 CYP2C9 EXON Missense_P363L exm2249447 10 96741124 [G/C] NM_000771 CYP2C9 EXON Synonymous_P382P exm844054 10 96741124 [G/C] NM_000771 CYP2C9 EXON Synonymous_P382P exm1688514 10 96745827 [A/G] NM_000771 CYP2C9 EXON Missense_H396R exm844070 10 96748733 [A/G] NM_000771 CYP2C9 EXON Missense_N474S exm844073 10 96748777 [T/C] NM_000771 CYP2C9 EXON Missense_P489S exm-rs2185570 10 96751270 [T/C] exm844087 10 96797033 [T/C] NM_001198853,NM_001198854,NM_001198855,NM_000770 CYP2C8,CYP2C8,CYP2C8,CYP2C8 EXON Missense_R372H,Missense_R340H,Missense_R372H,Missense_R442H exm-rs1934951 10 96798548 [T/C] NM_001198853,NM_001198854,NM_001198855,NM_000770 CYP2C8,CYP2C8,CYP2C8,CYP2C8 Silent,Silent,Silent,Silent exm844091 10 96798669 [T/C] NM_001198853,NM_001198854,NM_001198855,NM_000770 CYP2C8,CYP2C8,CYP2C8,CYP2C8 EXON Missense_M356V,Missense_M324V,Missense_M356V,Missense_M426V exm844093 10 96798695 [A/C] NM_001198853,NM_001198854,NM_001198855,NM_000770 CYP2C8,CYP2C8,CYP2C8,CYP2C8 EXON Missense_G347V,Missense_G315V,Missense_G347V,Missense_G417V exm844097 10 96798749 [T/C] NM_001198853,NM_001198854,NM_001198855,NM_000770 CYP2C8,CYP2C8,CYP2C8,CYP2C8 EXON Missense_K329R,Missense_K297R,Missense_K329R,Missense_K399R exm844098 10 96798758 [T/G] NM_001198853,NM_001198854,NM_001198855,NM_000770 CYP2C8,CYP2C8,CYP2C8,CYP2C8 EXON Missense_H326P,Missense_H294P,Missense_H326P,Missense_H396P exm844102 10 96798795 [T/C] NM_001198853,NM_001198854,NM_001198855,NM_000770 CYP2C8,CYP2C8,CYP2C8,CYP2C8 EXON Missense_G314S,Missense_G282S,Missense_G314S,Missense_G384S exm844109 10 96802703 [T/C] NM_001198853,NM_001198854,NM_001198855,NM_000770 CYP2C8,CYP2C8,CYP2C8,CYP2C8 EXON Missense_G295S,Missense_G263S,Missense_G295S,Missense_G365S exm844115 10 96802768 [A/C] NM_001198853,NM_001198854,NM_001198855,NM_000770 CYP2C8,CYP2C8,CYP2C8,CYP2C8 EXON Missense_S273I,Missense_S241I,Missense_S273I,Missense_S343I exm844119 10 96802804 [A/G] NM_001198853,NM_001198854,NM_001198855,NM_000770 CYP2C8,CYP2C8,CYP2C8,CYP2C8 EXON Missense_I261T,Missense_I229T,Missense_I261T,Missense_I331T exm844121 10 96805707 [T/C] NM_001198853,NM_001198854,NM_001198855,NM_000770 CYP2C8,CYP2C8,CYP2C8,CYP2C8 EXON Missense_E204G,Missense_E172G,Missense_E204G,Missense_E274G exm2217697 10 96805708 [A/C] NM_001198853,NM_001198854,NM_001198855,NM_000770 CYP2C8,CYP2C8,CYP2C8,CYP2C8 EXON Nonsense_E204X,Nonsense_E172X,Nonsense_E204X,Nonsense_E274X exm844133 10 96818119 [G/C] NM_001198853,NM_001198854,NM_001198855,NM_000770 CYP2C8,CYP2C8,CYP2C8,CYP2C8 EXON Missense_I194M,Missense_I162M,Missense_I194M,Missense_I264M exm844138 10 96818181 [T/C] NM_001198853,NM_001198854,NM_001198855,NM_000770 CYP2C8,CYP2C8,CYP2C8,CYP2C8 EXON Missense_I174V,Missense_I142V,Missense_I174V,Missense_I244V exm844148 10 96824597 [T/A] NM_001198853,NM_001198854,NM_001198855,NM_000770 CYP2C8,CYP2C8,CYP2C8,CYP2C8 EXON Missense_F131Y,Missense_F99Y,Missense_F131Y,Missense_F201Y exm844149 10 96824618 [T/A] NM_001198853,NM_001198854,NM_001198855,NM_000770 CYP2C8,CYP2C8,CYP2C8,CYP2C8 EXON Missense_F124Y,Missense_F92Y,Missense_F124Y,Missense_F194Y exm844150 10 96824643 [A/G] NM_001198853,NM_001198854,NM_001198855,NM_000770 CYP2C8,CYP2C8,CYP2C8,CYP2C8 EXON Nonsense_R116X,Nonsense_R84X,Nonsense_R116X,Nonsense_R186X exm844152 10 96824658 [T/C] NM_001198853,NM_001198854,NM_001198855,NM_000770 CYP2C8,CYP2C8,CYP2C8,CYP2C8 EXON Missense_V111I,Missense_V79I,Missense_V111I,Missense_V181I exm844157 10 96826966 [T/C] NM_001198853,NM_001198854,NM_001198855,NM_000770 CYP2C8,CYP2C8,CYP2C8,CYP2C8 EXON Synonymous_K90K,Synonymous_K58K,Synonymous_K90K,Synonymous_K160K exm844176 10 96828993 [T/C] NM_001198853,NM_001198854,NM_001198855,NM_000770 CYP2C8,CYP2C8,CYP2C8,CYP2C8 EXON Silent,Silent,Silent,Missense_N56S exm844180 10 96829097 [A/T] NM_001198853,NM_001198854,NM_001198855,NM_000770 CYP2C8,CYP2C8,CYP2C8,CYP2C8 EXON Silent,Silent,Silent,Missense_R21S exm844184 10 96829159 [T/C] NM_001198853,NM_001198854,NM_001198855,NM_000770 CYP2C8,CYP2C8,CYP2C8,CYP2C8 EXON Silent,Silent,Silent,Missense_M1V exm844185 10 96954252 [T/C] NM_207321 C10orf129 EXON Nonsense_R4X exm844187 10 96954298 [A/G] NM_207321 C10orf129 EXON Missense_E19G exm844188 10 96954360 [A/T] NM_207321 C10orf129 EXON Missense_C40S exm844189 10 96961777 [C/G] NM_207321 C10orf129 EXON Missense_K76N exm-rs664093 10 96965662 [T/C] NM_207321 C10orf129 Silent exm844194 10 96967024 [T/C] NM_207321 C10orf129 EXON Missense_R155C exm844195 10 96967025 [A/G] NM_207321 C10orf129 EXON Missense_R155H exm844198 10 96967087 [A/G] NM_207321 C10orf129 EXON Missense_V176M exm844204 10 96970463 [T/C] NM_207321 C10orf129 EXON Missense_I223T exm844205 10 96970475 [A/G] NM_207321 C10orf129 EXON Missense_K227R exm844208 10 96970534 [T/C] NM_207321 C10orf129 EXON Missense_F247L exm844229 10 96985057 [A/C] NM_207321 C10orf129 EXON Missense_E404A exm844251 10 97006992 [A/G] NM_020992 PDLIM1 EXON Missense_I222T exm844257 10 97023633 [A/G] NM_020992 PDLIM1 EXON Missense_A174V exm844258 10 97023640 [T/C] NM_020992 PDLIM1 EXON Missense_V172M exm1688562 10 97023725 [T/C] NM_020992 PDLIM1 EXON Synonymous_Q143Q exm844271 10 97031417 [A/G] NM_020992 PDLIM1 EXON Missense_T74I exm844280 10 97074865 [T/C] NM_006434,NM_001034954,NM_001034955,NM_015385,NM_001034956,NM_001034957,NM_024991 SORBS1,SORBS1,SORBS1,SORBS1,SORBS1,SORBS1,SORBS1 EXON Missense_K669R,Missense_K1277R,Missense_K1136R,Missense_K801R,Missense_K890R,Missense_K725R,Missense_K766R exm844283 10 97078116 [T/C] NM_006434,NM_001034954,NM_001034955,NM_015385,NM_001034956,NM_001034957,NM_024991 SORBS1,SORBS1,SORBS1,SORBS1,SORBS1,SORBS1,SORBS1 EXON Missense_V650I,Missense_V1258I,Missense_V1117I,Missense_V782I,Missense_V871I,Missense_V706I,Missense_V747I exm844297 10 97096334 [A/G] NM_006434,NM_001034954,NM_001034955,NM_015385,NM_001034956,NM_001034957,NM_024991 SORBS1,SORBS1,SORBS1,SORBS1,SORBS1,SORBS1,SORBS1 EXON Silent,Missense_R1195W,Missense_R1054W,Silent,Silent,Silent,Silent exm844300 10 97096357 [T/C] NM_006434,NM_001034954,NM_001034955,NM_015385,NM_001034956,NM_001034957,NM_024991 SORBS1,SORBS1,SORBS1,SORBS1,SORBS1,SORBS1,SORBS1 EXON Silent,Missense_G1187E,Missense_G1046E,Silent,Silent,Silent,Silent exm844309 10 97096556 [A/G] NM_006434,NM_001034954,NM_001034955,NM_015385,NM_001034956,NM_001034957,NM_024991 SORBS1,SORBS1,SORBS1,SORBS1,SORBS1,SORBS1,SORBS1 EXON Silent,Missense_R1121C,Missense_R980C,Silent,Silent,Silent,Silent exm844311 10 97096645 [T/C] NM_006434,NM_001034954,NM_001034955,NM_015385,NM_001034956,NM_001034957,NM_024991 SORBS1,SORBS1,SORBS1,SORBS1,SORBS1,SORBS1,SORBS1 EXON Silent,Missense_S1091N,Silent,Silent,Silent,Silent,Silent exm844323 10 97096921 [T/C] NM_006434,NM_001034954,NM_001034955,NM_015385,NM_001034956,NM_001034957,NM_024991 SORBS1,SORBS1,SORBS1,SORBS1,SORBS1,SORBS1,SORBS1 EXON Silent,Missense_R999H,Silent,Silent,Silent,Silent,Silent exm844328 10 97097026 [A/G] NM_006434,NM_001034954,NM_001034955,NM_015385,NM_001034956,NM_001034957,NM_024991 SORBS1,SORBS1,SORBS1,SORBS1,SORBS1,SORBS1,SORBS1 EXON Silent,Missense_T964M,Silent,Silent,Silent,Silent,Silent exm844338 10 97101103 [A/C] NM_006434,NM_001034954,NM_001034955,NM_015385,NM_001034956,NM_001034957,NM_024991 SORBS1,SORBS1,SORBS1,SORBS1,SORBS1,SORBS1,SORBS1 EXON Missense_G520V,Missense_G870V,Missense_G892V,Missense_G652V,Missense_G721V,Missense_G576V,Missense_G617V exm844339 10 97101142 [T/C] NM_006434,NM_001034954,NM_001034955,NM_015385,NM_001034956,NM_001034957,NM_024991 SORBS1,SORBS1,SORBS1,SORBS1,SORBS1,SORBS1,SORBS1 EXON Missense_Q507R,Missense_Q857R,Missense_Q879R,Missense_Q639R,Missense_Q708R,Missense_Q563R,Missense_Q604R exm844358 10 97114706 [T/C] NM_006434,NM_001034954,NM_001034955,NM_015385,NM_001034956,NM_001034957,NM_024991 SORBS1,SORBS1,SORBS1,SORBS1,SORBS1,SORBS1,SORBS1 EXON Missense_H422R,Missense_H716R,Missense_H738R,Missense_H554R,Missense_H567R,Missense_H422R,Missense_H463R exm2249448 10 97116219 [T/C] NM_006434,NM_001034954,NM_001034955,NM_015385,NM_001034956,NM_001034957,NM_024991 SORBS1,SORBS1,SORBS1,SORBS1,SORBS1,SORBS1,SORBS1 Silent,Silent,Silent,Silent,Silent,Silent,Silent exm844383 10 97117517 [T/C] NM_006434,NM_001034954,NM_001034955,NM_015385,NM_001034956,NM_001034957,NM_024991 SORBS1,SORBS1,SORBS1,SORBS1,SORBS1,SORBS1,SORBS1 EXON Missense_G373R,Missense_G667R,Missense_G689R,Missense_G505R,Missense_G518R,Missense_G373R,Missense_G414R exm844388 10 97127434 [A/G] NM_006434,NM_001034954,NM_001034955,NM_015385,NM_001034956,NM_001034957,NM_024991 SORBS1,SORBS1,SORBS1,SORBS1,SORBS1,SORBS1,SORBS1 EXON Missense_P349L,Missense_P643L,Missense_P665L,Missense_P481L,Missense_P494L,Missense_P349L,Missense_P390L exm844392 10 97131117 [A/G] NM_006434,NM_001034954,NM_001034955,NM_015385,NM_001034956,NM_001034957,NM_024991 SORBS1,SORBS1,SORBS1,SORBS1,SORBS1,SORBS1,SORBS1 EXON Silent,Missense_T624M,Missense_T646M,Silent,Silent,Silent,Silent exm844399 10 97135752 [A/G] NM_006434,NM_001034954,NM_001034955,NM_015385,NM_001034956,NM_001034957,NM_024991 SORBS1,SORBS1,SORBS1,SORBS1,SORBS1,SORBS1,SORBS1 EXON Silent,Missense_S572L,Missense_S594L,Silent,Missense_S457L,Silent,Silent exm-rs1536556 10 97137105 [A/G] NM_006434,NM_001034954,NM_001034955,NM_015385,NM_001034956,NM_001034957,NM_024991 SORBS1,SORBS1,SORBS1,SORBS1,SORBS1,SORBS1,SORBS1 Silent,Silent,Silent,Silent,Silent,Silent,Silent exm2249449 10 97141487 [A/G] NM_006434,NM_001034954,NM_001034955,NM_015385,NM_001034956,NM_001034957,NM_024991 SORBS1,SORBS1,SORBS1,SORBS1,SORBS1,SORBS1,SORBS1 EXON Synonymous_Y326Y,Synonymous_Y536Y,Synonymous_Y558Y,Synonymous_Y458Y,Synonymous_Y421Y,Synonymous_Y326Y,Synonymous_Y367Y exm844408 10 97141509 [T/C] NM_006434,NM_001034954,NM_001034955,NM_015385,NM_001034956,NM_001034957,NM_024991 SORBS1,SORBS1,SORBS1,SORBS1,SORBS1,SORBS1,SORBS1 EXON Missense_R319H,Missense_R529H,Missense_R551H,Missense_R451H,Missense_R414H,Missense_R319H,Missense_R360H exm844413 10 97143796 [A/G] NM_006434,NM_001034954,NM_001034955,NM_015385,NM_001034956,NM_001034957,NM_024991 SORBS1,SORBS1,SORBS1,SORBS1,SORBS1,SORBS1,SORBS1 EXON Missense_S285L,Missense_S495L,Missense_S517L,Missense_S417L,Missense_S380L,Missense_S285L,Missense_S326L exm844415 10 97143826 [T/C] NM_006434,NM_001034954,NM_001034955,NM_015385,NM_001034956,NM_001034957,NM_024991 SORBS1,SORBS1,SORBS1,SORBS1,SORBS1,SORBS1,SORBS1 EXON Missense_Y275C,Missense_Y485C,Missense_Y507C,Missense_Y407C,Missense_Y370C,Missense_Y275C,Missense_Y316C exm844420 10 97144031 [T/C] NM_006434,NM_001034954,NM_001034955,NM_015385,NM_001034956,NM_001034957,NM_024991 SORBS1,SORBS1,SORBS1,SORBS1,SORBS1,SORBS1,SORBS1 EXON Missense_D248N,Missense_D458N,Missense_D480N,Missense_D380N,Missense_D343N,Missense_D248N,Missense_D289N exm844426 10 97154424 [T/C] NM_006434,NM_001034954,NM_001034955,NM_015385,NM_001034956,NM_001034957,NM_024991 SORBS1,SORBS1,SORBS1,SORBS1,SORBS1,SORBS1,SORBS1 EXON Silent,Missense_N435S,Silent,Silent,Silent,Silent,Silent exm844428 10 97154761 [T/C] NM_006434,NM_001034954,NM_001034955,NM_015385,NM_001034956,NM_001034957,NM_024991 SORBS1,SORBS1,SORBS1,SORBS1,SORBS1,SORBS1,SORBS1 EXON Silent,Missense_E432K,Missense_E432K,Silent,Silent,Silent,Silent exm844432 10 97154830 [T/C] NM_006434,NM_001034954,NM_001034955,NM_015385,NM_001034956,NM_001034957,NM_024991 SORBS1,SORBS1,SORBS1,SORBS1,SORBS1,SORBS1,SORBS1 EXON Silent,Missense_T409A,Missense_T409A,Silent,Silent,Silent,Silent exm844441 10 97158836 [T/C] NM_006434,NM_001034954,NM_001034955,NM_015385,NM_001034956,NM_001034957,NM_024991 SORBS1,SORBS1,SORBS1,SORBS1,SORBS1,SORBS1,SORBS1 EXON Missense_V202M,Missense_V366M,Missense_V366M,Missense_V334M,Missense_V297M,Missense_V202M,Missense_V243M exm2217705 10 97174413 [T/C] NM_006434,NM_001034954,NM_001034955,NM_015385,NM_001034956,NM_001034957,NM_024991 SORBS1,SORBS1,SORBS1,SORBS1,SORBS1,SORBS1,SORBS1 EXON Silent,Synonymous_Q216Q,Synonymous_Q216Q,Synonymous_Q184Q,Silent,Silent,Silent exm2249450 10 97174422 [A/G] NM_006434,NM_001034954,NM_001034955,NM_015385,NM_001034956,NM_001034957,NM_024991 SORBS1,SORBS1,SORBS1,SORBS1,SORBS1,SORBS1,SORBS1 EXON Silent,Synonymous_P213P,Synonymous_P213P,Synonymous_P181P,Silent,Silent,Silent exm844467 10 97174537 [A/C] NM_006434,NM_001034954,NM_001034955,NM_015385,NM_001034956,NM_001034957,NM_024991 SORBS1,SORBS1,SORBS1,SORBS1,SORBS1,SORBS1,SORBS1 EXON Silent,Missense_G175V,Missense_G175V,Missense_G143V,Silent,Silent,Silent exm844471 10 97174610 [T/A] NM_006434,NM_001034954,NM_001034955,NM_015385,NM_001034956,NM_001034957,NM_024991 SORBS1,SORBS1,SORBS1,SORBS1,SORBS1,SORBS1,SORBS1 EXON Silent,Missense_S151T,Missense_S151T,Missense_S119T,Silent,Silent,Silent exm844478 10 97181768 [T/C] NM_006434,NM_001034954,NM_001034955,NM_015385,NM_001034956,NM_001034957,NM_024991 SORBS1,SORBS1,SORBS1,SORBS1,SORBS1,SORBS1,SORBS1 EXON Missense_A90T,Missense_A131T,Missense_A131T,Missense_A99T,Missense_A131T,Missense_A90T,Missense_A131T exm2274429 10 97192285 [T/C] NM_006434,NM_001034954,NM_001034955,NM_015385,NM_001034956,NM_001034957,NM_024991 SORBS1,SORBS1,SORBS1,SORBS1,SORBS1,SORBS1,SORBS1 EXON Missense_R42Q,Missense_R74Q,Missense_R74Q,Missense_R42Q,Missense_R74Q,Missense_R42Q,Missense_R74Q exm844493 10 97192324 [A/G] NM_006434,NM_001034954,NM_001034955,NM_015385,NM_001034956,NM_001034957,NM_024991 SORBS1,SORBS1,SORBS1,SORBS1,SORBS1,SORBS1,SORBS1 EXON Missense_L29P,Missense_L61P,Missense_L61P,Missense_L29P,Missense_L61P,Missense_L29P,Missense_L61P exm844494 10 97194397 [G/C] NM_006434,NM_001034954,NM_001034955,NM_015385,NM_001034956,NM_001034957,NM_024991 SORBS1,SORBS1,SORBS1,SORBS1,SORBS1,SORBS1,SORBS1 EXON Silent,Missense_G52R,Missense_G52R,Silent,Missense_G52R,Silent,Missense_G52R exm2271334 10 97316040 [T/C] NM_015385,NM_024991 SORBS1,SORBS1 Silent,Silent exm2267121 10 97348734 [A/G] exm844511 10 97366572 [T/C] NM_002860,NM_001017423 ALDH18A1,ALDH18A1 EXON Missense_S779G,Missense_S777G exm844539 10 97373724 [T/C] NM_002860,NM_001017423 ALDH18A1,ALDH18A1 EXON Synonymous_L600L,Synonymous_L598L exm844543 10 97376235 [T/A] NM_002860,NM_001017423 ALDH18A1,ALDH18A1 EXON Missense_L535Q,Missense_L533Q exm2217707 10 97376241 [A/C] NM_002860,NM_001017423 ALDH18A1,ALDH18A1 EXON Missense_V533G,Missense_V531G exm844557 10 97380874 [T/C] NM_002860,NM_001017423 ALDH18A1,ALDH18A1 EXON Missense_A461T,Missense_A459T exm844566 10 97381002 [A/T] NM_002860,NM_001017423 ALDH18A1,ALDH18A1 EXON Missense_L418H,Missense_L416H exm844567 10 97385128 [T/C] NM_002860,NM_001017423 ALDH18A1,ALDH18A1 EXON Missense_E413K,Missense_E411K exm844571 10 97386497 [T/G] NM_002860,NM_001017423 ALDH18A1,ALDH18A1 EXON Missense_S372Y,Missense_S370Y exm844579 10 97387304 [T/C] NM_002860,NM_001017423 ALDH18A1,ALDH18A1 EXON Missense_V325I,Missense_V323I exm844584 10 97388162 [A/G] NM_002860,NM_001017423 ALDH18A1,ALDH18A1 EXON Missense_T299I,Missense_T297I exm844589 10 97393256 [A/C] NM_002860,NM_001017423 ALDH18A1,ALDH18A1 EXON Missense_G237W,Missense_G237W exm844601 10 97402858 [A/C] NM_002860,NM_001017423 ALDH18A1,ALDH18A1 EXON Missense_S65I,Missense_S65I exm844603 10 97402883 [T/G] NM_002860,NM_001017423 ALDH18A1,ALDH18A1 EXON Missense_H57N,Missense_H57N exm844605 10 97402930 [T/C] NM_002860,NM_001017423 ALDH18A1,ALDH18A1 EXON Missense_R41H,Missense_R41H exm2217710 10 97440282 [A/G] NM_015631,NM_001143973 TCTN3,TCTN3 EXON Missense_P513S,Missense_P365S exm844632 10 97442422 [A/G] NM_015631,NM_001143973 TCTN3,TCTN3 EXON Missense_H480Y,Missense_H332Y exm844634 10 97442457 [A/G] NM_015631,NM_001143973 TCTN3,TCTN3 EXON Missense_A468V,Missense_A320V exm844647 10 97444321 [T/C] NM_015631,NM_001143973 TCTN3,TCTN3 EXON Missense_G344R,Silent exm844652 10 97445336 [T/C] NM_015631,NM_001143973 TCTN3,TCTN3 EXON Missense_T316A,Silent exm844653 10 97445357 [A/C] NM_015631,NM_001143973 TCTN3,TCTN3 EXON Missense_A309S,Silent exm844674 10 97453433 [A/G] NM_015631,NM_001143973 TCTN3,TCTN3 EXON Missense_A75V,Missense_A75V exm844676 10 97453464 [T/G] NM_015631,NM_001143973 TCTN3,TCTN3 EXON Missense_T65P,Missense_T65P exm844690 10 97515523 [A/G] NM_001098175,NR_038444,NM_001164178,NM_001164181 ENTPD1,LOC728558,ENTPD1,ENTPD1 EXON Silent,Silent,Missense_E18K,Silent exm844701 10 97583002 [A/G] NM_001098175,NR_038444,NM_001164178,NM_001164181,NM_001164182,NM_001776,NM_001164183,NM_001164179 ENTPD1,LOC728558,ENTPD1,ENTPD1,ENTPD1,ENTPD1,ENTPD1,ENTPD1 EXON Missense_V16M,Silent,Missense_V21M,Silent,Silent,Missense_V9M,Silent,Missense_V9M exm844719 10 97604243 [G/C] NM_001098175,NR_038444,NM_001164178,NM_001164181,NM_001164182,NM_001776,NM_001164183,NM_001164179 ENTPD1,LOC728558,ENTPD1,ENTPD1,ENTPD1,ENTPD1,ENTPD1,ENTPD1 EXON Missense_E149Q,Silent,Missense_E154Q,Missense_E34Q,Missense_E4Q,Missense_E142Q,Missense_E4Q,Missense_E142Q exm844721 10 97604260 [G/C] NM_001098175,NR_038444,NM_001164178,NM_001164181,NM_001164182,NM_001776,NM_001164183,NM_001164179 ENTPD1,LOC728558,ENTPD1,ENTPD1,ENTPD1,ENTPD1,ENTPD1,ENTPD1 EXON Missense_R154S,Silent,Missense_R159S,Missense_R39S,Missense_R9S,Missense_R147S,Missense_R9S,Missense_R147S exm844723 10 97604357 [A/G] NM_001098175,NR_038444,NM_001164178,NM_001164181,NM_001164182,NM_001776,NM_001164183,NM_001164179 ENTPD1,LOC728558,ENTPD1,ENTPD1,ENTPD1,ENTPD1,ENTPD1,ENTPD1 EXON Missense_I187V,Silent,Missense_I192V,Missense_I72V,Missense_I42V,Missense_I180V,Missense_I42V,Missense_I180V exm844741 10 97607266 [A/G] NM_001098175,NR_038444,NM_001164178,NM_001164181,NM_001164182,NM_001776,NM_001164183,NM_001164179 ENTPD1,LOC728558,ENTPD1,ENTPD1,ENTPD1,ENTPD1,ENTPD1,ENTPD1 EXON Missense_V300I,Silent,Missense_V305I,Missense_V185I,Missense_V155I,Missense_V293I,Missense_V155I,Silent exm844758 10 97625940 [C/G] NM_001098175,NR_038444,NM_001164178,NM_001164181,NM_001164182,NM_001776,NM_001164183,NM_001164179 ENTPD1,LOC728558,ENTPD1,ENTPD1,ENTPD1,ENTPD1,ENTPD1,ENTPD1 EXON Missense_G452R,Silent,Missense_G457R,Missense_G337R,Missense_G307R,Missense_G445R,Missense_G307R,Missense_G404R exm844764 10 97626086 [G/C] NM_001098175,NR_038444,NM_001164178,NM_001164181,NM_001164182,NM_001776,NM_001164183,NM_001164179 ENTPD1,LOC728558,ENTPD1,ENTPD1,ENTPD1,ENTPD1,ENTPD1,ENTPD1 EXON Missense_I500M,Silent,Missense_I505M,Missense_I385M,Missense_I355M,Missense_I493M,Missense_I355M,Missense_I452M exm844771 10 97687049 [C/G] NR_038444,NM_001130446 LOC728558,C10orf131 EXON Silent,Missense_S91T exm844787 10 97772358 [A/G] NR_038444,NM_001001732,NM_001159747 LOC728558,CC2D2B,CC2D2B EXON Silent,Missense_N64D,Missense_N64D exm844788 10 97772370 [A/G] NR_038444,NM_001001732,NM_001159747 LOC728558,CC2D2B,CC2D2B EXON Silent,Missense_V68I,Missense_V68I exm844793 10 97773554 [T/G] NR_038444,NM_001001732,NM_001159747 LOC728558,CC2D2B,CC2D2B EXON Silent,Missense_A110S,Missense_A110S exm844797 10 97775977 [T/C] NR_038444,NM_001001732,NM_001159747 LOC728558,CC2D2B,CC2D2B EXON Silent,Missense_I143T,Missense_I143T exm844798 10 97775988 [T/G] NR_038444,NM_001001732,NM_001159747 LOC728558,CC2D2B,CC2D2B EXON Silent,Nonsense_E147X,Nonsense_E147X exm844811 10 97779510 [T/C] NR_038444,NM_001001732,NM_001159747 LOC728558,CC2D2B,CC2D2B EXON Silent,Missense_Y237H,Missense_Y237H exm844813 10 97779539 [C/G] NR_038444,NM_001001732,NM_001159747 LOC728558,CC2D2B,CC2D2B EXON Silent,Missense_L246F,Missense_L246F exm844820 10 97786973 [A/G] NR_038444,NM_001001732,NM_001159747 LOC728558,CC2D2B,CC2D2B EXON Silent,Silent,Missense_E282K exm844821 10 97787021 [A/C] NR_038444,NM_001001732,NM_001159747 LOC728558,CC2D2B,CC2D2B EXON Silent,Silent,Missense_T298P exm844829 10 97791754 [T/C] NR_038444,NM_001001732,NM_001159747 LOC728558,CC2D2B,CC2D2B EXON Silent,Nonsense_Q320X,Nonsense_Q399X exm844830 10 97791761 [T/A] NR_038444,NM_001001732,NM_001159747 LOC728558,CC2D2B,CC2D2B EXON Silent,Missense_Q322L,Missense_Q401L exm844841 10 97816917 [A/G] NR_038444,NM_019084,NM_001134376,NM_001134375 LOC728558,CCNJ,CCNJ,CCNJ EXON Silent,Missense_R207H,Missense_R206H,Missense_R218H exm844842 10 97816949 [T/C] NR_038444,NM_019084,NM_001134376,NM_001134375 LOC728558,CCNJ,CCNJ,CCNJ EXON Silent,Missense_R218C,Missense_R217C,Missense_R229C exm844873 10 97916272 [T/C] NM_014803 ZNF518A EXON Missense_H65Y exm844874 10 97916283 [A/C] NM_014803 ZNF518A EXON Missense_D68E exm844876 10 97916355 [T/G] NM_014803 ZNF518A EXON Missense_C92W exm2217724 10 97916813 [C/G] NM_014803 ZNF518A EXON Missense_T245S exm844901 10 97917157 [T/G] NM_014803 ZNF518A EXON Missense_D360Y exm844905 10 97917307 [A/G] NM_014803 ZNF518A EXON Missense_A410T exm844911 10 97917476 [A/G] NM_014803 ZNF518A EXON Missense_N466S exm844916 10 97917556 [C/G] NM_014803 ZNF518A EXON Missense_G493R exm844921 10 97917646 [A/G] NM_014803 ZNF518A EXON Missense_G523R exm844923 10 97917725 [A/G] NM_014803 ZNF518A EXON Missense_S549N exm844924 10 97917726 [T/G] NM_014803 ZNF518A EXON Missense_S549R exm2217726 10 97917756 [C/G] NM_014803 ZNF518A EXON Missense_L559F exm844940 10 97918177 [A/G] NM_014803 ZNF518A EXON Missense_I700V exm844943 10 97918219 [T/C] NM_014803 ZNF518A EXON Missense_S714P exm844952 10 97918502 [T/G] NM_014803 ZNF518A EXON Missense_G808V exm844954 10 97918514 [A/G] NM_014803 ZNF518A EXON Missense_H812R exm844957 10 97918556 [T/G] NM_014803 ZNF518A EXON Missense_I826S exm844963 10 97918804 [A/G] NM_014803 ZNF518A EXON Missense_T909A exm844966 10 97918915 [A/C] NM_014803 ZNF518A EXON Missense_N946H exm844973 10 97919011 [A/G] NM_014803 ZNF518A EXON Missense_M978V exm844979 10 97919138 [A/G] NM_014803 ZNF518A EXON Missense_N1020S exm845002 10 97919599 [T/G] NM_014803 ZNF518A EXON Missense_V1174L exm845014 10 97919839 [T/A] NM_014803 ZNF518A EXON Missense_I1254F exm845019 10 97920062 [A/G] NM_014803 ZNF518A EXON Missense_R1328Q exm845026 10 97920278 [T/C] NM_014803 ZNF518A EXON Missense_M1400T exm845041 10 97959905 [T/C] NM_001258440,NR_047681,NM_001258442,NR_047682,NR_047680,NM_013314,NM_001258441,NM_001114094,NR_047683 BLNK,BLNK,BLNK,BLNK,BLNK,BLNK,BLNK,BLNK,BLNK EXON Missense_V341I,Silent,Missense_V236I,Silent,Silent,Missense_V341I,Missense_V318I,Missense_V318I,Silent exm845048 10 97963824 [A/G] NM_001258440,NR_047681,NM_001258442,NR_047682,NR_047680,NM_013314,NM_001258441,NM_001114094,NR_047683 BLNK,BLNK,BLNK,BLNK,BLNK,BLNK,BLNK,BLNK,BLNK EXON Missense_I308T,Silent,Missense_I203T,Silent,Silent,Missense_I308T,Missense_I285T,Missense_I285T,Silent exm845073 10 97983635 [A/C] NM_001258440,NR_047681,NM_001258442,NR_047682,NR_047680,NM_013314,NM_001258441,NM_001114094,NR_047683 BLNK,BLNK,BLNK,BLNK,BLNK,BLNK,BLNK,BLNK,BLNK EXON Missense_A158S,Silent,Silent,Silent,Silent,Missense_A158S,Missense_A158S,Missense_A158S,Silent exm1688810 10 97987252 [T/G] NM_001258440,NR_047681,NM_001258442,NR_047682,NR_047680,NM_013314,NM_001258441,NM_001114094,NR_047683 BLNK,BLNK,BLNK,BLNK,BLNK,BLNK,BLNK,BLNK,BLNK EXON Missense_A92D,Silent,Missense_A92D,Silent,Silent,Missense_A92D,Missense_A92D,Missense_A92D,Silent exm845080 10 97987254 [T/G] NM_001258440,NR_047681,NM_001258442,NR_047682,NR_047680,NM_013314,NM_001258441,NM_001114094,NR_047683 BLNK,BLNK,BLNK,BLNK,BLNK,BLNK,BLNK,BLNK,BLNK EXON Missense_N91K,Silent,Missense_N91K,Silent,Silent,Missense_N91K,Missense_N91K,Missense_N91K,Silent exm845082 10 97987265 [T/C] NM_001258440,NR_047681,NM_001258442,NR_047682,NR_047680,NM_013314,NM_001258441,NM_001114094,NR_047683 BLNK,BLNK,BLNK,BLNK,BLNK,BLNK,BLNK,BLNK,BLNK EXON Missense_A88T,Silent,Missense_A88T,Silent,Silent,Missense_A88T,Missense_A88T,Missense_A88T,Silent exm845086 10 97987321 [T/C] NM_001258440,NR_047681,NM_001258442,NR_047682,NR_047680,NM_013314,NM_001258441,NM_001114094,NR_047683 BLNK,BLNK,BLNK,BLNK,BLNK,BLNK,BLNK,BLNK,BLNK EXON Missense_D69G,Silent,Missense_D69G,Silent,Silent,Missense_D69G,Missense_D69G,Missense_D69G,Silent exm845090 10 97990576 [T/C] NM_001258440,NR_047681,NM_001258442,NR_047682,NR_047680,NM_013314,NM_001258441,NM_001114094,NR_047683 BLNK,BLNK,BLNK,BLNK,BLNK,BLNK,BLNK,BLNK,BLNK EXON Missense_E60K,Silent,Missense_E60K,Silent,Silent,Missense_E60K,Missense_E60K,Missense_E60K,Silent exm845096 10 98002539 [A/G] NM_001258440,NR_047681,NM_001258442,NR_047682,NR_047680,NM_013314,NM_001258441,NM_001114094,NR_047683 BLNK,BLNK,BLNK,BLNK,BLNK,BLNK,BLNK,BLNK,BLNK EXON Synonymous_L39L,Silent,Synonymous_L39L,Silent,Silent,Synonymous_L39L,Synonymous_L39L,Synonymous_L39L,Silent exm845100 10 98006765 [G/C] NM_001258440,NR_047681,NM_001258442,NR_047682,NR_047680,NM_013314,NM_001258441,NM_001114094,NR_047683 BLNK,BLNK,BLNK,BLNK,BLNK,BLNK,BLNK,BLNK,BLNK EXON Missense_G30R,Silent,Missense_G30R,Silent,Silent,Missense_G30R,Missense_G30R,Missense_G30R,Silent exm845101 10 98006805 [T/C] NM_001258440,NR_047681,NM_001258442,NR_047682,NR_047680,NM_013314,NM_001258441,NM_001114094,NR_047683 BLNK,BLNK,BLNK,BLNK,BLNK,BLNK,BLNK,BLNK,BLNK EXON Synonymous_R16R,Silent,Synonymous_R16R,Silent,Silent,Synonymous_R16R,Synonymous_R16R,Synonymous_R16R,Silent exm2271335 10 98015414 [T/G] NM_001258440,NR_047681,NM_001258442,NR_047682,NR_047680,NM_013314,NM_001258441,NM_001114094,NR_047683 BLNK,BLNK,BLNK,BLNK,BLNK,BLNK,BLNK,BLNK,BLNK Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm845111 10 98064281 [C/G] NM_001017520,NM_004088 DNTT,DNTT EXON Missense_L9F,Missense_L9F exm845113 10 98064300 [T/C] NM_001017520,NM_004088 DNTT,DNTT EXON Missense_P16S,Missense_P16S exm845114 10 98064303 [T/C] NM_001017520,NM_004088 DNTT,DNTT EXON Missense_R17W,Missense_R17W exm845117 10 98064363 [A/G] NM_001017520,NM_004088 DNTT,DNTT EXON Missense_V37I,Missense_V37I exm845130 10 98078174 [T/C] NM_001017520,NM_004088 DNTT,DNTT EXON Missense_A90V,Missense_A90V exm845131 10 98078206 [T/C] NM_001017520,NM_004088 DNTT,DNTT EXON Missense_L101F,Missense_L101F exm845135 10 98078239 [A/G] NM_001017520,NM_004088 DNTT,DNTT EXON Missense_R112G,Missense_R112G exm845144 10 98079059 [T/C] NM_001017520,NM_004088 DNTT,DNTT EXON Missense_P140L,Missense_P140L exm845160 10 98082453 [T/G] NM_001017520,NM_004088 DNTT,DNTT EXON Missense_V240L,Missense_V240L exm845164 10 98084077 [T/A] NM_001017520,NM_004088 DNTT,DNTT EXON Missense_M269L,Missense_M269L exm845166 10 98084110 [G/C] NM_001017520,NM_004088 DNTT,DNTT EXON Missense_D280H,Missense_D280H exm2271427 10 98085338 [T/C] NM_001017520,NM_004088 DNTT,DNTT Silent,Silent exm845168 10 98087271 [A/C] NM_001017520,NM_004088 DNTT,DNTT EXON Missense_E307D,Missense_E307D exm845178 10 98092286 [A/G] NM_001017520,NM_004088 DNTT,DNTT EXON Missense_R431H,Missense_R431H exm845185 10 98092352 [A/G] NM_001017520,NM_004088 DNTT,DNTT EXON Missense_R453Q,Missense_R453Q exm845188 10 98095681 [T/C] NM_001017520,NM_004088 DNTT,DNTT EXON Missense_H464Y,Missense_H465Y exm845189 10 98095688 [A/G] NM_001017520,NM_004088 DNTT,DNTT EXON Missense_R466Q,Missense_R467Q exm845190 10 98097944 [A/G] NM_001017520,NM_004088 DNTT,DNTT EXON Missense_G497E,Missense_G498E exm845196 10 98105765 [T/C] NM_001040102,NM_033207,NM_001040103 OPALIN,OPALIN,OPALIN EXON Missense_R97H,Missense_R120H,Missense_R110H exm845197 10 98105771 [T/C] NM_001040102,NM_033207,NM_001040103 OPALIN,OPALIN,OPALIN EXON Missense_R95H,Missense_R118H,Missense_R108H exm845198 10 98105783 [A/G] NM_001040102,NM_033207,NM_001040103 OPALIN,OPALIN,OPALIN EXON Missense_P91L,Missense_P114L,Missense_P104L exm845211 10 98109492 [T/C] NM_001040102,NM_033207,NM_001040103 OPALIN,OPALIN,OPALIN EXON Missense_R32Q,Missense_R55Q,Missense_R45Q exm845217 10 98109573 [A/G] NM_001040102,NM_033207,NM_001040103 OPALIN,OPALIN,OPALIN EXON Missense_P5L,Missense_P28L,Missense_P18L exm845222 10 98113208 [T/C] NM_001040102,NM_033207,NM_001040103 OPALIN,OPALIN,OPALIN EXON Silent,Silent,Missense_R2Q exm845223 10 98115019 [A/G] NM_001040102,NM_033207,NM_001040103 OPALIN,OPALIN,OPALIN EXON Silent,Missense_A11V,Silent exm2274430 10 98127968 [T/G] NM_012465 TLL2 EXON Missense_E975D exm845238 10 98129826 [T/G] NM_012465 TLL2 EXON Missense_S970Y exm845251 10 98133370 [T/C] NM_012465 TLL2 EXON Missense_Q882R exm2217730 10 98133439 [A/G] NM_012465 TLL2 EXON Missense_T859M exm845257 10 98133469 [T/C] NM_012465 TLL2 EXON Missense_R849H exm-rs10786284 10 98135505 [A/T] NM_012465 TLL2 Silent exm845269 10 98136563 [C/G] NM_012465 TLL2 EXON Missense_H778Q exm845272 10 98138748 [T/C] NM_012465 TLL2 EXON Missense_E766K exm845275 10 98138791 [G/C] NM_012465 TLL2 EXON Missense_F751L exm845289 10 98144409 [A/G] NM_012465 TLL2 EXON Missense_M710T exm845293 10 98144491 [T/C] NM_012465 TLL2 EXON Missense_G683S exm845298 10 98145856 [A/G] NM_012465 TLL2 EXON Missense_R657W exm845303 10 98145961 [T/C] NM_012465 TLL2 EXON Missense_G622S exm845308 10 98146733 [T/G] NM_012465 TLL2 EXON Missense_A610D exm845311 10 98146778 [A/G] NM_012465 TLL2 EXON Missense_T595M exm845319 10 98154959 [T/C] NM_012465 TLL2 EXON Missense_A571T exm845322 10 98155039 [A/G] NM_012465 TLL2 EXON Missense_P544L exm845323 10 98155048 [T/C] NM_012465 TLL2 EXON Missense_Y541C exm845328 10 98155678 [A/G] NM_012465 TLL2 EXON Missense_T495M exm845331 10 98155756 [T/C] NM_012465 TLL2 EXON Missense_N469S exm845332 10 98155774 [A/G] NM_012465 TLL2 EXON Missense_T463I exm845333 10 98156946 [T/C] NM_012465 TLL2 EXON Missense_E461K exm845338 10 98156990 [T/C] NM_012465 TLL2 EXON Missense_R446H exm845339 10 98157006 [A/G] NM_012465 TLL2 EXON Missense_L441F exm845342 10 98157035 [A/G] NM_012465 TLL2 EXON Missense_P431L exm845346 10 98165088 [T/C] NM_012465 TLL2 EXON Missense_V390I exm845352 10 98170184 [G/C] NM_012465 TLL2 EXON Missense_G366R exm845355 10 98170204 [A/G] NM_012465 TLL2 EXON Missense_T359M exm845361 10 98172999 [T/C] NM_012465 TLL2 EXON Missense_R333Q exm2276120 10 98173003 [C/G] NM_012465 TLL2 EXON Missense_V332L exm845362 10 98173006 [A/G] NM_012465 TLL2 EXON Missense_R331C exm845373 10 98180722 [A/G] NM_012465 TLL2 EXON Missense_T305I exm845374 10 98180729 [A/G] NM_012465 TLL2 EXON Missense_R303W exm845376 10 98180756 [T/C] NM_012465 TLL2 EXON Missense_D294N exm2217733 10 98180761 [A/G] NM_012465 TLL2 EXON Missense_T292I exm845378 10 98180781 [T/A] NM_012465 TLL2 EXON Missense_E285D exm845383 10 98182398 [T/A] NM_012465 TLL2 EXON Missense_H242L exm845391 10 98192585 [T/C] NM_012465 TLL2 EXON Missense_V167I exm2267035 10 98212575 [A/G] NM_012465 TLL2 Silent exm845401 10 98240108 [A/G] NM_012465 TLL2 EXON Missense_T95I exm845404 10 98240130 [T/C] NM_012465 TLL2 EXON Missense_V88M exm845405 10 98240156 [T/A] NM_012465 TLL2 EXON Missense_K79I exm845411 10 98273354 [A/G] NM_012465 TLL2 EXON Missense_P30L exm845416 10 98282051 [T/C] NM_020123 TM9SF3 EXON Missense_R580Q exm845471 10 98362062 [T/C] NM_152309 PIK3AP1 EXON Missense_V779M exm845473 10 98362146 [A/C] NM_152309 PIK3AP1 EXON Missense_V751F exm845494 10 98380137 [T/C] NM_152309 PIK3AP1 EXON Missense_K638R exm2217737 10 98380285 [A/G] NM_152309 PIK3AP1 EXON Missense_P589S exm845504 10 98383229 [T/C] NM_152309 PIK3AP1 EXON Missense_G579R exm2217738 10 98386483 [T/C] NM_152309 PIK3AP1 EXON Missense_E551K exm2249453 10 98386639 [A/G] NM_152309 PIK3AP1 EXON Synonymous_L499L exm845518 10 98388214 [T/A] NM_152309 PIK3AP1 EXON Missense_I471N exm845524 10 98405235 [T/C] NM_152309 PIK3AP1 EXON Missense_D457G exm845526 10 98405266 [T/C] NM_152309 PIK3AP1 EXON Missense_M447V exm2249454 10 98411132 [A/G] NM_152309 PIK3AP1 EXON Synonymous_F287F exm2249455 10 98411293 [A/G] NM_152309 PIK3AP1 EXON Synonymous_A276A exm845546 10 98411354 [T/C] NM_152309 PIK3AP1 EXON Missense_C256Y exm845547 10 98411362 [T/G] NM_152309 PIK3AP1 EXON Missense_L253F exm845553 10 98412547 [A/G] NM_152309 PIK3AP1 EXON Missense_A207V exm845560 10 98416614 [T/G] NM_152309 PIK3AP1 EXON Missense_P170T exm845569 10 98469507 [A/C] NM_152309 PIK3AP1 EXON Missense_A83S exm845573 10 98469537 [A/C] NM_152309 PIK3AP1 EXON Missense_A73S exm845579 10 98469693 [T/C] NM_152309 PIK3AP1 EXON Missense_E21K exm845580 10 98469734 [A/G] NM_152309 PIK3AP1 EXON Missense_P7L exm2264403 10 98699136 [A/C] NM_001170765,NM_001170766,NM_032440 LCOR,LCOR,LCOR Silent,Silent,Silent exm845589 10 98708945 [T/C] NM_001170765,NM_001170766,NM_032440 LCOR,LCOR,LCOR EXON Missense_T44M,Missense_T44M,Missense_T44M exm845606 10 98714973 [A/C] NM_001170765,NM_001170766,NM_032440 LCOR,LCOR,LCOR EXON Missense_H199P,Missense_H199P,Missense_H199P exm845616 10 98715243 [A/G] NM_001170765,NM_001170766,NM_032440 LCOR,LCOR,LCOR EXON Missense_S289N,Missense_S289N,Missense_S289N exm2273467 10 98715698 [T/A] NM_001170765,NM_001170766,NM_032440 LCOR,LCOR,LCOR EXON Silent,Silent,Silent exm845634 10 98741206 [A/G] NM_015652 C10orf12 EXON Missense_S20N exm845637 10 98741293 [A/G] NM_015652 C10orf12 EXON Missense_N49S exm845638 10 98741350 [A/G] NM_015652 C10orf12 EXON Missense_R68H exm845647 10 98741575 [A/G] NM_015652 C10orf12 EXON Missense_R143Q exm845648 10 98741589 [G/C] NM_015652 C10orf12 EXON Missense_A148P exm845655 10 98741839 [A/C] NM_015652 C10orf12 EXON Missense_T231N exm845657 10 98741907 [A/C] NM_015652 C10orf12 EXON Missense_N254H exm845659 10 98741943 [A/G] NM_015652 C10orf12 EXON Missense_E266K exm845663 10 98741973 [A/G] NM_015652 C10orf12 EXON Missense_K276E exm1689033 10 98741997 [T/C] NM_015652 C10orf12 EXON Missense_C284R exm845671 10 98742043 [A/G] NM_015652 C10orf12 EXON Missense_E299G exm1689036 10 98742081 [A/G] NM_015652 C10orf12 EXON Missense_A312T exm845675 10 98742088 [T/C] NM_015652 C10orf12 EXON Missense_L314P exm1689037 10 98742193 [T/C] NM_015652 C10orf12 EXON Missense_T349M exm2249456 10 98742218 [T/C] NM_015652 C10orf12 EXON Synonymous_D357D exm845681 10 98742225 [T/C] NM_015652 C10orf12 EXON Missense_L360F exm845686 10 98742321 [T/C] NM_015652 C10orf12 EXON Missense_P392S exm845687 10 98742334 [A/G] NM_015652 C10orf12 EXON Missense_E396G exm845690 10 98742348 [G/C] NM_015652 C10orf12 EXON Missense_P401A exm845696 10 98742471 [A/G] NM_015652 C10orf12 EXON Missense_T442A exm845697 10 98742505 [A/G] NM_015652 C10orf12 EXON Missense_E453G exm845698 10 98742514 [T/C] NM_015652 C10orf12 EXON Missense_A456V exm845699 10 98742525 [A/G] NM_015652 C10orf12 EXON Missense_I460V exm845706 10 98742658 [A/G] NM_015652 C10orf12 EXON Missense_D504G exm845709 10 98742750 [A/C] NM_015652 C10orf12 EXON Missense_I535L exm845710 10 98742813 [A/C] NM_015652 C10orf12 EXON Missense_T556P exm1689042 10 98742887 [A/T] NM_015652 C10orf12 EXON Missense_E580D exm845718 10 98742919 [G/C] NM_015652 C10orf12 EXON Missense_G591A exm845732 10 98743237 [A/G] NM_015652 C10orf12 EXON Missense_D697G exm845748 10 98743488 [A/G] NM_015652 C10orf12 EXON Missense_V781M exm1689051 10 98744019 [A/G] NM_015652 C10orf12 EXON Missense_V958M exm845769 10 98744103 [T/C] NM_015652 C10orf12 EXON Missense_H986Y exm845770 10 98744107 [T/C] NM_015652 C10orf12 EXON Missense_P987L exm845771 10 98744109 [C/G] NM_015652 C10orf12 EXON Missense_P988A exm1689053 10 98744262 [A/G] NM_015652 C10orf12 EXON Missense_V1039I exm845780 10 98744446 [A/G] NM_015652 C10orf12 EXON Missense_S1100N exm2217742 10 98744457 [A/G] NM_015652 C10orf12 EXON Missense_G1104R exm845784 10 98744538 [A/G] NM_015652 C10orf12 EXON Missense_D1131N exm845803 10 98744846 [T/G] NM_015652 C10orf12 EXON Missense_K1233N exm845804 10 98744853 [T/C] NM_015652 C10orf12 EXON Missense_C1236R exm845816 10 98761008 [T/C] NM_003061 SLIT1 EXON Missense_R1489Q exm845824 10 98761080 [T/C] NM_003061 SLIT1 EXON Missense_R1465Q exm1689063 10 98762058 [A/G] NM_003061 SLIT1 EXON Missense_S1408L exm845859 10 98763892 [T/G] NM_003061 SLIT1 EXON Missense_S1266R exm845866 10 98764538 [T/C] NM_003061 SLIT1 EXON Missense_D1208N exm2217745 10 98773555 [A/G] NM_003061 SLIT1 EXON Missense_P1049L exm845888 10 98773803 [T/G] NM_003061 SLIT1 EXON Missense_T1028P exm845902 10 98778796 [T/G] NM_003061 SLIT1 EXON Missense_T939P exm1689094 10 98791402 [A/G] NM_003061 SLIT1 EXON Missense_P824L exm845924 10 98797456 [T/C] NM_003061 SLIT1 EXON Missense_V789M exm845929 10 98799785 [A/G] NM_003061 SLIT1 EXON Missense_R753W exm845937 10 98802722 [T/G] NM_003061 SLIT1 EXON Missense_N700K exm845940 10 98802763 [A/G] NM_003061 SLIT1 EXON Missense_R687W exm845943 10 98803139 [A/G] NM_003061 SLIT1 EXON Missense_S662F exm845972 10 98808826 [A/C] NM_003061 SLIT1 EXON Missense_A451S exm845975 10 98816099 [A/G] NM_003061 SLIT1 EXON Missense_S427F exm845976 10 98816108 [A/G] NM_003061 SLIT1 EXON Missense_T424I exm845989 10 98819266 [A/C] NM_003061 SLIT1 EXON Missense_A346S exm2264393 10 98922577 [A/C] NM_003061,NR_037909 SLIT1,ARHGAP19-SLIT1 Silent,Silent exm846033 10 98924600 [A/G] NM_003061,NR_037909 SLIT1,ARHGAP19-SLIT1 EXON Missense_A82V,Silent exm846062 10 99003741 [T/C] NR_037909,NM_001256423,NM_032900,NM_001204300 ARHGAP19-SLIT1,ARHGAP19,ARHGAP19,ARHGAP19 EXON Silent,Missense_K381R,Missense_K390R,Missense_K361R exm846066 10 99003804 [A/G] NR_037909,NM_001256423,NM_032900,NM_001204300 ARHGAP19-SLIT1,ARHGAP19,ARHGAP19,ARHGAP19 EXON Silent,Missense_T360M,Missense_T369M,Missense_T340M exm846067 10 99003811 [A/G] NR_037909,NM_001256423,NM_032900,NM_001204300 ARHGAP19-SLIT1,ARHGAP19,ARHGAP19,ARHGAP19 EXON Silent,Missense_H358Y,Missense_H367Y,Missense_H338Y exm846072 10 99006061 [A/G] NR_037909,NM_001256423,NM_032900,NM_001204300 ARHGAP19-SLIT1,ARHGAP19,ARHGAP19,ARHGAP19 EXON Silent,Missense_H312Y,Missense_H321Y,Missense_H292Y exm846074 10 99016088 [T/C] NR_037909,NM_001256423,NM_032900,NM_001204300 ARHGAP19-SLIT1,ARHGAP19,ARHGAP19,ARHGAP19 EXON Silent,Missense_Q296R,Missense_Q305R,Silent exm846078 10 99019280 [T/C] NR_037909,NM_001256423,NM_032900,NM_001204300 ARHGAP19-SLIT1,ARHGAP19,ARHGAP19,ARHGAP19 EXON Silent,Missense_R231H,Missense_R240H,Missense_R240H exm2274431 10 99019287 [A/G] NR_037909,NM_001256423,NM_032900,NM_001204300 ARHGAP19-SLIT1,ARHGAP19,ARHGAP19,ARHGAP19 EXON Silent,Missense_P229S,Missense_P238S,Missense_P238S exm846108 10 99025673 [G/C] NR_037909,NM_001256423,NM_032900,NM_001204300 ARHGAP19-SLIT1,ARHGAP19,ARHGAP19,ARHGAP19 EXON Silent,Missense_G80A,Missense_G89A,Missense_G89A exm846144 10 99079914 [G/C] NM_005479 FRAT1 EXON Missense_P235R exm846180 10 99116903 [T/C] NM_015179,NM_001145114 RRP12,RRP12 EXON Missense_R1281Q,Missense_R1220Q exm846193 10 99118716 [A/G] NM_015179,NM_001145114 RRP12,RRP12 EXON Missense_A1231V,Missense_A1170V exm846214 10 99125924 [T/C] NM_015179,NM_001145114 RRP12,RRP12 EXON Missense_R1153Q,Missense_R1092Q exm846217 10 99125934 [T/C] NM_015179,NM_001145114 RRP12,RRP12 EXON Missense_A1150T,Missense_A1089T exm846218 10 99125949 [T/C] NM_015179,NM_001145114 RRP12,RRP12 EXON Missense_G1145S,Missense_G1084S exm846225 10 99126223 [T/C] NM_015179,NM_001145114 RRP12,RRP12 EXON Missense_K1124R,Missense_K1063R exm846230 10 99126257 [T/C] NM_015179,NM_001145114 RRP12,RRP12 EXON Missense_G1113S,Missense_G1052S exm846252 10 99129195 [T/C] NM_015179,NM_001145114 RRP12,RRP12 EXON Missense_H981R,Missense_H920R exm846272 10 99130684 [T/C] NM_015179,NM_001145114 RRP12,RRP12 EXON Missense_K833R,Missense_K772R exm846280 10 99130832 [T/C] NM_015179,NM_001145114 RRP12,RRP12 EXON Missense_A784T,Missense_A723T exm846288 10 99132509 [T/C] NM_015179,NM_001145114 RRP12,RRP12 EXON Missense_S745G,Missense_S684G exm846295 10 99132841 [T/C] NM_015179,NM_001145114 RRP12,RRP12 EXON Missense_E715K,Missense_E654K exm846300 10 99132883 [T/C] NM_015179,NM_001145114 RRP12,RRP12 EXON Missense_V701M,Missense_V640M exm846303 10 99133362 [A/G] NM_015179,NM_001145114 RRP12,RRP12 EXON Missense_R666C,Missense_R605C exm846306 10 99133398 [A/G] NM_015179,NM_001145114 RRP12,RRP12 EXON Missense_R654C,Missense_R593C exm846312 10 99133585 [A/C] NM_015179,NM_001145114 RRP12,RRP12 Silent,Silent exm846317 10 99139064 [T/G] NM_015179,NM_001145114 RRP12,RRP12 EXON Missense_T595N,Missense_T534N exm846318 10 99139106 [T/C] NM_015179,NM_001145114 RRP12,RRP12 EXON Missense_R581Q,Missense_R520Q exm846320 10 99139121 [T/C] NM_015179,NM_001145114 RRP12,RRP12 EXON Missense_H576R,Missense_H515R exm846335 10 99140576 [T/C] NM_015179,NM_001145114 RRP12,RRP12 EXON Missense_A505T,Missense_A444T exm846336 10 99140594 [T/C] NM_015179,NM_001145114 RRP12,RRP12 EXON Missense_E499K,Missense_E438K exm846343 10 99141192 [T/C] NM_015179,NM_001145114 RRP12,RRP12 EXON Missense_V457M,Missense_V396M exm846346 10 99141201 [T/C] NM_015179,NM_001145114 RRP12,RRP12 EXON Missense_I454V,Missense_I393V exm846352 10 99141506 [A/G] NM_015179,NM_001145114 RRP12,RRP12 EXON Missense_S429L,Missense_S368L exm846381 10 99148260 [A/G] NM_015179,NM_001145114 RRP12,RRP12 EXON Missense_I292T,Missense_I231T exm846384 10 99148296 [A/G] NM_015179,NM_001145114 RRP12,RRP12 EXON Missense_A280V,Missense_A219V exm846393 10 99150277 [A/G] NM_015179,NM_001145114 RRP12,RRP12 EXON Missense_T219I,Missense_T158I exm846399 10 99150567 [T/C] NM_015179,NM_001145114 RRP12,RRP12 EXON Missense_D189N,Silent exm846402 10 99153472 [T/C] NM_015179,NM_001145114 RRP12,RRP12 EXON Missense_V167I,Silent exm846444 10 99190891 [A/G] NM_002629 PGAM1 EXON Synonymous_E198E exm846447 10 99192141 [A/G] NM_002629 PGAM1 EXON Missense_N209D exm846467 10 99196990 [T/C] NM_016046 EXOSC1 EXON Missense_A147T exm846469 10 99197008 [A/T] NM_016046 EXOSC1 EXON Missense_N141Y exm846479 10 99200958 [A/G] NM_016046 EXOSC1 EXON Missense_P94L exm846483 10 99203050 [T/C] NM_016046 EXOSC1 EXON Missense_V56M exm846493 10 99205727 [T/C] NM_016046 EXOSC1 EXON Missense_R6G exm846505 10 99211545 [A/G] NM_032327,NM_198045,NM_198043,NM_198044,NM_198046 ZDHHC16,ZDHHC16,ZDHHC16,ZDHHC16,ZDHHC16 EXON Missense_R38H,Missense_R38H,Missense_R38H,Missense_R38H,Missense_R38H exm846517 10 99211868 [G/C] NM_032327,NM_198045,NM_198043,NM_198044,NM_198046 ZDHHC16,ZDHHC16,ZDHHC16,ZDHHC16,ZDHHC16 EXON Missense_V89L,Silent,Missense_V89L,Missense_V89L,Missense_V89L exm846519 10 99211895 [A/G] NM_032327,NM_198045,NM_198043,NM_198044,NM_198046 ZDHHC16,ZDHHC16,ZDHHC16,ZDHHC16,ZDHHC16 EXON Missense_A98T,Silent,Missense_A98T,Missense_A98T,Missense_A98T exm846531 10 99212224 [A/G] NM_032327,NM_198045,NM_198043,NM_198044,NM_198046 ZDHHC16,ZDHHC16,ZDHHC16,ZDHHC16,ZDHHC16 EXON Missense_K164R,Missense_K99R,Missense_K164R,Missense_K164R,Missense_K164R exm846532 10 99212232 [T/C] NM_032327,NM_198045,NM_198043,NM_198044,NM_198046 ZDHHC16,ZDHHC16,ZDHHC16,ZDHHC16,ZDHHC16 EXON Nonsense_R167X,Nonsense_R102X,Nonsense_R167X,Nonsense_R167X,Nonsense_R167X exm846534 10 99212680 [T/C] NM_032327,NM_198045,NM_198043,NM_198044,NM_198046 ZDHHC16,ZDHHC16,ZDHHC16,ZDHHC16,ZDHHC16 EXON Missense_P186S,Missense_P121S,Missense_P186S,Silent,Missense_P186S exm846556 10 99215518 [A/G] NM_032327,NM_198045,NM_198043,NM_198044,NM_198046 ZDHHC16,ZDHHC16,ZDHHC16,ZDHHC16,ZDHHC16 EXON Missense_R309H,Missense_R228H,Missense_R293H,Missense_R270H,Missense_R309H exm846566 10 99218456 [T/C] NM_022362 MMS19 EXON Missense_G1029D exm846571 10 99218642 [A/G] NM_022362 MMS19 EXON Missense_P994S exm846573 10 99218996 [T/C] NM_022362 MMS19 EXON Missense_R983H exm846584 10 99219416 [T/C] NM_022362 MMS19 EXON Synonymous_T913T exm846590 10 99219865 [T/C] NM_022362 MMS19 EXON Missense_R865H exm2267036 10 99219885 [A/G] NM_022362 MMS19 EXON Synonymous_A858A exm846596 10 99219980 [A/G] NM_022362 MMS19 EXON Missense_L827F exm846600 10 99220454 [A/G] NM_022362 MMS19 EXON Missense_R823W exm846605 10 99220707 [T/C] NM_022362 MMS19 EXON Missense_G790D exm846612 10 99221826 [T/C] NM_022362 MMS19 EXON Missense_N688S exm846615 10 99221845 [A/G] NM_022362 MMS19 EXON Missense_P682S exm846624 10 99222439 [T/C] NM_022362 MMS19 EXON Missense_E638G exm846627 10 99223674 [T/C] NM_022362 MMS19 EXON Missense_Y618C exm846635 10 99225645 [A/G] NM_022362 MMS19 EXON Missense_A558V exm846638 10 99225667 [A/G] NM_022362 MMS19 EXON Missense_R551W exm846642 10 99225846 [T/C] NM_022362 MMS19 EXON Missense_V526I exm846649 10 99226634 [T/C] NM_022362 MMS19 EXON Missense_K441R exm2217759 10 99226656 [C/G] NM_022362 MMS19 EXON Missense_Q434E exm846653 10 99227333 [T/G] NM_022362 MMS19 EXON Missense_Q409P exm846660 10 99228162 [T/G] NM_022362 MMS19 EXON Missense_D355E exm846664 10 99228785 [T/C] NM_022362 MMS19 EXON Missense_R334H exm846673 10 99230599 [T/C] NM_022362 MMS19 EXON Missense_G235D exm846677 10 99236625 [T/C] NM_022362 MMS19 EXON Missense_V197I exm846687 10 99238117 [A/G] NM_022362 MMS19 EXON Missense_R98W exm846715 10 99327673 [T/C] NM_024954 UBTD1 EXON Missense_R25C exm846716 10 99327674 [A/G] NM_024954 UBTD1 EXON Missense_R25H exm1689407 10 99327790 [T/C] NM_024954 UBTD1 EXON Missense_R64C exm846737 10 99330035 [T/C] NM_024954 UBTD1 EXON Missense_R147C exm846743 10 99330101 [A/G] NM_024954 UBTD1 EXON Missense_D169N exm846745 10 99330146 [A/C] NM_024954 UBTD1 EXON Missense_I184L exm1689419 10 99332519 [A/G] NM_001129981,NM_020349 ANKRD2,ANKRD2 EXON Missense_E19K,Missense_E19K exm846759 10 99332531 [T/C] NM_001129981,NM_020349 ANKRD2,ANKRD2 EXON Missense_P23S,Missense_P23S exm846766 10 99332606 [T/C] NM_001129981,NM_020349 ANKRD2,ANKRD2 EXON Missense_R48W,Missense_R48W exm2217763 10 99337564 [G/C] NM_001129981,NM_020349 ANKRD2,ANKRD2 EXON Missense_R59P,Missense_R59P exm846772 10 99337626 [T/G] NM_001129981,NM_020349 ANKRD2,ANKRD2 EXON Missense_G80W,Missense_G80W exm846780 10 99338131 [C/G] NM_001129981,NM_020349 ANKRD2,ANKRD2 EXON Missense_E135D,Missense_E135D exm846783 10 99338262 [T/C] NM_001129981,NM_020349 ANKRD2,ANKRD2 EXON Missense_P146L,Missense_P146L exm846784 10 99338265 [T/C] NM_001129981,NM_020349 ANKRD2,ANKRD2 EXON Missense_V147A,Missense_V147A exm846798 10 99341106 [A/G] NM_001129981,NM_020349 ANKRD2,ANKRD2 EXON Missense_G224R,Missense_G224R exm846802 10 99342082 [T/C] NM_001129981,NM_020349 ANKRD2,ANKRD2 EXON Silent,Missense_T249I exm846803 10 99342085 [T/C] NM_001129981,NM_020349 ANKRD2,ANKRD2 EXON Silent,Missense_P250L exm846805 10 99342400 [T/C] NM_001129981,NM_020349 ANKRD2,ANKRD2 EXON Missense_R259C,Missense_R292C exm846807 10 99342440 [A/G] NM_001129981,NM_020349 ANKRD2,ANKRD2 EXON Missense_D272G,Missense_D305G exm846813 10 99343370 [T/A] NM_001129981,NM_020349 ANKRD2,ANKRD2 EXON Missense_Q291L,Missense_Q324L exm846819 10 99343468 [A/G] NM_001129981,NM_020349 ANKRD2,ANKRD2 EXON Missense_V324M,Missense_V357M exm846827 10 99344645 [T/A] NM_138413,NM_001134670 HOGA1,HOGA1 EXON Missense_H62L,Missense_H62L exm846831 10 99349683 [T/G] NM_138413,NM_001134670,NM_001009997 HOGA1,HOGA1,C10orf62 EXON Silent,Silent,Missense_R10I exm2249459 10 99349783 [T/C] NM_138413,NM_001134670,NM_001009997 HOGA1,HOGA1,C10orf62 EXON Silent,Silent,Synonymous_S43S exm846835 10 99349784 [A/G] NM_138413,NM_001134670,NM_001009997 HOGA1,HOGA1,C10orf62 EXON Silent,Silent,Missense_E44K exm1689454 10 99349802 [A/G] NM_138413,NM_001134670,NM_001009997 HOGA1,HOGA1,C10orf62 EXON Silent,Silent,Missense_D50N exm846840 10 99349827 [A/G] NM_138413,NM_001134670,NM_001009997 HOGA1,HOGA1,C10orf62 EXON Silent,Silent,Missense_N58S exm846844 10 99349889 [A/C] NM_138413,NM_001134670,NM_001009997 HOGA1,HOGA1,C10orf62 EXON Silent,Silent,Missense_T79P exm846849 10 99349995 [A/G] NM_138413,NM_001134670,NM_001009997 HOGA1,HOGA1,C10orf62 EXON Silent,Silent,Missense_G114E exm846851 10 99350017 [C/G] NM_138413,NM_001134670,NM_001009997 HOGA1,HOGA1,C10orf62 EXON Silent,Silent,Missense_E121D exm846857 10 99350103 [T/C] NM_138413,NM_001134670,NM_001009997 HOGA1,HOGA1,C10orf62 EXON Silent,Silent,Missense_I150T exm846868 10 99350210 [T/C] NM_138413,NM_001134670,NM_001009997 HOGA1,HOGA1,C10orf62 EXON Silent,Silent,Missense_R186W exm846870 10 99350289 [A/G] NM_138413,NM_001134670,NM_001009997 HOGA1,HOGA1,C10orf62 EXON Silent,Silent,Missense_S212N exm846871 10 99350316 [A/G] NM_138413,NM_001134670,NM_001009997 HOGA1,HOGA1,C10orf62 EXON Silent,Silent,Missense_R221H exm846895 10 99358929 [T/C] NM_138413,NM_001134670 HOGA1,HOGA1 EXON Missense_R142C,Silent exm846897 10 99358948 [T/C] NM_138413,NM_001134670 HOGA1,HOGA1 EXON Missense_A148V,Silent exm846907 10 99359522 [T/C] NM_138413,NM_001134670 HOGA1,HOGA1 EXON Missense_T185M,Silent exm846908 10 99359537 [T/C] NM_138413,NM_001134670 HOGA1,HOGA1 EXON Missense_P190L,Silent exm846919 10 99361628 [A/G] NM_138413,NM_001134670 HOGA1,HOGA1 EXON Missense_V239I,Missense_V76I exm846923 10 99361689 [T/C] NM_138413,NM_001134670 HOGA1,HOGA1 EXON Missense_T259M,Missense_T96M exm846927 10 99361704 [T/A] NM_138413,NM_001134670 HOGA1,HOGA1 EXON Missense_D264V,Missense_D101V exm846932 10 99371292 [T/G] NM_138413,NM_001134670 HOGA1,HOGA1 EXON Missense_G287V,Missense_G124V exm1689471 10 99371308 [A/G] NM_138413,NM_001134670 HOGA1,HOGA1 EXON Missense_M292I,Missense_M129I exm846936 10 99371363 [T/C] NM_138413,NM_001134670 HOGA1,HOGA1 EXON Missense_P311S,Missense_P148S exm1689473 10 99371376 [A/G] NM_138413,NM_001134670 HOGA1,HOGA1 EXON Missense_E315G,Missense_E152G exm2217766 10 99376027 [A/G] NM_178832,NM_001098831 MORN4,MORN4 EXON Missense_T145I,Missense_T145I exm846945 10 99376130 [A/G] NM_178832,NM_001098831 MORN4,MORN4 EXON Missense_R111C,Missense_R111C exm2271428 10 99395652 [T/G] exm846959 10 99400525 [T/C] NM_018425 PI4K2A EXON Missense_S9F exm846970 10 99400836 [A/G] NM_018425 PI4K2A EXON Missense_V113M exm846974 10 99410698 [A/G] NM_018425 PI4K2A EXON Missense_R146G exm846984 10 99416644 [A/G] NM_018425 PI4K2A EXON Missense_A279T exm846985 10 99416671 [T/C] NM_018425 PI4K2A EXON Missense_R288W exm846990 10 99422705 [A/G] NM_018425 PI4K2A EXON Missense_M322V exm846991 10 99422724 [A/G] NM_018425 PI4K2A EXON Missense_R328Q exm846992 10 99424645 [A/G] NM_018425 PI4K2A EXON Missense_T330A exm846996 10 99426244 [T/G] NM_018425 PI4K2A EXON Missense_Q378H exm846998 10 99426290 [A/G] NM_018425 PI4K2A EXON Missense_V394I exm847002 10 99433389 [A/G] NM_018425 PI4K2A EXON Missense_V444I exm847024 10 99439454 [T/G] NM_021732 AVPI1 EXON Missense_A70D exm847029 10 99439509 [T/C] NM_021732 AVPI1 EXON Missense_E52K exm847031 10 99439541 [G/C] NM_021732 AVPI1 EXON Missense_A41G exm847033 10 99439556 [A/C] NM_021732 AVPI1 EXON Missense_L36R exm847037 10 99439598 [A/C] NM_021732 AVPI1 EXON Missense_G22V exm847044 10 99439673 [G/C] NM_021732 AVPI1 Silent exm847059 10 99498234 [A/G] NM_001174122,NM_001174119,NM_001174120,NM_144588,NM_001174121,NM_001002262,NM_001002261 ZFYVE27,ZFYVE27,ZFYVE27,ZFYVE27,ZFYVE27,ZFYVE27,ZFYVE27 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent exm847062 10 99498266 [T/C] NM_001174122,NM_001174119,NM_001174120,NM_144588,NM_001174121,NM_001002262,NM_001002261 ZFYVE27,ZFYVE27,ZFYVE27,ZFYVE27,ZFYVE27,ZFYVE27,ZFYVE27 EXON Missense_P11L,Missense_P11L,Missense_P11L,Missense_P11L,Silent,Missense_P11L,Missense_P11L exm847065 10 99498296 [T/C] NM_001174122,NM_001174119,NM_001174120,NM_144588,NM_001174121,NM_001002262,NM_001002261 ZFYVE27,ZFYVE27,ZFYVE27,ZFYVE27,ZFYVE27,ZFYVE27,ZFYVE27 EXON Missense_A21V,Missense_A21V,Missense_A21V,Missense_A21V,Silent,Missense_A21V,Missense_A21V exm847067 10 99498313 [C/G] NM_001174122,NM_001174119,NM_001174120,NM_144588,NM_001174121,NM_001002262,NM_001002261 ZFYVE27,ZFYVE27,ZFYVE27,ZFYVE27,ZFYVE27,ZFYVE27,ZFYVE27 EXON Missense_P27A,Missense_P27A,Missense_P27A,Missense_P27A,Silent,Missense_P27A,Missense_P27A exm847070 10 99498362 [T/C] NM_001174122,NM_001174119,NM_001174120,NM_144588,NM_001174121,NM_001002262,NM_001002261 ZFYVE27,ZFYVE27,ZFYVE27,ZFYVE27,ZFYVE27,ZFYVE27,ZFYVE27 EXON Missense_S43F,Missense_S43F,Missense_S43F,Missense_S43F,Silent,Missense_S43F,Missense_S43F exm847076 10 99502891 [T/C] NM_001174122,NM_001174119,NM_001174120,NM_144588,NM_001174121,NM_001002262,NM_001002261 ZFYVE27,ZFYVE27,ZFYVE27,ZFYVE27,ZFYVE27,ZFYVE27,ZFYVE27 EXON Silent,Silent,Silent,Missense_L80F,Silent,Missense_L80F,Missense_L80F exm847079 10 99502897 [A/G] NM_001174122,NM_001174119,NM_001174120,NM_144588,NM_001174121,NM_001002262,NM_001002261 ZFYVE27,ZFYVE27,ZFYVE27,ZFYVE27,ZFYVE27,ZFYVE27,ZFYVE27 EXON Silent,Silent,Silent,Missense_V82I,Silent,Missense_V82I,Missense_V82I exm847084 10 99504630 [T/G] NM_001174122,NM_001174119,NM_001174120,NM_144588,NM_001174121,NM_001002262,NM_001002261 ZFYVE27,ZFYVE27,ZFYVE27,ZFYVE27,ZFYVE27,ZFYVE27,ZFYVE27 EXON Silent,Missense_G106V,Silent,Missense_G138V,Missense_G40V,Missense_G138V,Missense_G138V exm847085 10 99504641 [T/C] NM_001174122,NM_001174119,NM_001174120,NM_144588,NM_001174121,NM_001002262,NM_001002261 ZFYVE27,ZFYVE27,ZFYVE27,ZFYVE27,ZFYVE27,ZFYVE27,ZFYVE27 EXON Silent,Missense_R110C,Silent,Missense_R142C,Missense_R44C,Missense_R142C,Missense_R142C exm847102 10 99509251 [T/G] NM_001174122,NM_001174119,NM_001174120,NM_144588,NM_001174121,NM_001002262,NM_001002261 ZFYVE27,ZFYVE27,ZFYVE27,ZFYVE27,ZFYVE27,ZFYVE27,ZFYVE27 EXON Missense_G73V,Missense_G159V,Missense_G105V,Missense_G191V,Missense_G93V,Missense_G191V,Missense_G191V exm847132 10 99519057 [A/G] NM_001174122,NM_001174119,NM_001174120,NM_144588,NM_001174121,NM_001002262,NM_001002261 ZFYVE27,ZFYVE27,ZFYVE27,ZFYVE27,ZFYVE27,ZFYVE27,ZFYVE27 EXON Missense_X287W,Missense_X373W,Missense_X319W,Missense_X412W,Missense_X312W,Missense_X405W,Missense_X417W exm847137 10 99527290 [G/C] NM_003015 SFRP5 EXON Missense_G312A exm847144 10 99527407 [T/G] NM_003015 SFRP5 EXON Missense_D273A exm847147 10 99527460 [T/G] NM_003015 SFRP5 EXON Nonsense_C255X exm847150 10 99527477 [T/C] NM_003015 SFRP5 EXON Missense_G250S exm847154 10 99527543 [T/G] NM_003015 SFRP5 EXON Missense_K228Q exm847156 10 99527573 [A/G] NM_003015 SFRP5 EXON Missense_R218W exm847168 10 99531185 [T/C] NM_003015 SFRP5 EXON Missense_A136T exm847171 10 99531239 [A/C] NM_003015 SFRP5 EXON Missense_D118Y exm847173 10 99531253 [A/G] NM_003015 SFRP5 EXON Missense_A113V exm847175 10 99531284 [T/C] NM_003015 SFRP5 EXON Missense_D103N exm-rs4359141 10 99554180 [A/G] exm847192 10 99619249 [T/C] NM_001010917 GOLGA7B EXON Missense_S16L exm847208 10 99625319 [T/C] NM_001010917,NM_018058 GOLGA7B,CRTAC1 EXON Silent,Missense_E658K exm847216 10 99625463 [T/C] NM_001010917,NM_018058 GOLGA7B,CRTAC1 EXON Silent,Missense_G610S exm-rs531676 10 99637578 [A/G] NM_018058 CRTAC1 Silent exm847223 10 99640065 [T/C] NM_018058,NM_001206528 CRTAC1,CRTAC1 EXON Missense_R587Q,Missense_R587Q exm847225 10 99640099 [T/C] NM_018058,NM_001206528 CRTAC1,CRTAC1 EXON Missense_V576I,Missense_V576I exm847226 10 99640110 [T/C] NM_018058,NM_001206528 CRTAC1,CRTAC1 EXON Missense_R572Q,Missense_R572Q exm847227 10 99640120 [T/C] NM_018058,NM_001206528 CRTAC1,CRTAC1 EXON Missense_V569M,Missense_V569M exm847236 10 99644037 [T/C] NM_018058,NM_001206528 CRTAC1,CRTAC1 EXON Missense_G520R,Missense_G520R exm847237 10 99644046 [T/C] NM_018058,NM_001206528 CRTAC1,CRTAC1 EXON Missense_V517M,Missense_V517M exm847241 10 99655020 [T/C] NM_018058,NM_001206528 CRTAC1,CRTAC1 EXON Missense_V490M,Missense_V490M exm847246 10 99655130 [T/C] NM_018058,NM_001206528 CRTAC1,CRTAC1 EXON Missense_R453Q,Missense_R453Q exm847251 10 99655653 [A/G] NM_018058,NM_001206528 CRTAC1,CRTAC1 EXON Missense_R436W,Missense_R436W exm847252 10 99655659 [T/C] NM_018058,NM_001206528 CRTAC1,CRTAC1 EXON Missense_V434I,Missense_V434I exm847260 10 99656714 [T/C] NM_018058,NM_001206528 CRTAC1,CRTAC1 EXON Missense_E390K,Missense_E390K exm847263 10 99656748 [A/G] NM_018058,NM_001206528 CRTAC1,CRTAC1 EXON Synonymous_R378R,Synonymous_R378R exm1689596 10 99661261 [A/G] NM_018058,NM_001206528 CRTAC1,CRTAC1 EXON Missense_R378C,Missense_R378C exm847273 10 99664433 [T/C] NM_018058,NM_001206528 CRTAC1,CRTAC1 EXON Missense_R330H,Missense_R330H exm847284 10 99667790 [A/G] NM_018058,NM_001206528 CRTAC1,CRTAC1 EXON Missense_V277A,Missense_V277A exm847288 10 99667863 [T/C] NM_018058,NM_001206528 CRTAC1,CRTAC1 EXON Missense_A253T,Missense_A253T exm847293 10 99667893 [T/C] NM_018058,NM_001206528 CRTAC1,CRTAC1 EXON Missense_V243I,Missense_V243I exm847306 10 99677404 [A/G] NM_018058,NM_001206528 CRTAC1,CRTAC1 EXON Missense_R190C,Missense_R190C exm847309 10 99683022 [T/C] NM_018058,NM_001206528 CRTAC1,CRTAC1 EXON Missense_K186R,Missense_K186R exm847315 10 99683093 [T/G] NM_018058,NM_001206528 CRTAC1,CRTAC1 EXON Missense_S162R,Missense_S162R exm847317 10 99683113 [A/G] NM_018058,NM_001206528 CRTAC1,CRTAC1 EXON Missense_R156W,Missense_R156W exm847320 10 99683122 [A/G] NM_018058,NM_001206528 CRTAC1,CRTAC1 EXON Missense_R153C,Missense_R153C exm847323 10 99695972 [T/C] NM_018058,NM_001206528 CRTAC1,CRTAC1 EXON Missense_G126S,Missense_G126S exm847329 10 99696031 [A/G] NM_018058,NM_001206528 CRTAC1,CRTAC1 EXON Missense_A106V,Missense_A106V exm847332 10 99696059 [T/C] NM_018058,NM_001206528 CRTAC1,CRTAC1 EXON Missense_V97I,Missense_V97I exm-rs508001 10 99754973 [A/C] NM_018058,NM_001206528 CRTAC1,CRTAC1 Silent,Silent exm847347 10 99967935 [T/C] NM_001256619,NM_138469,NM_014472,NM_001256620,NM_001256621 R3HCC1L,R3HCC1L,R3HCC1L,R3HCC1L,R3HCC1L EXON Missense_P22S,Missense_P22S,Missense_P22S,Missense_P22S,Silent exm847357 10 99968334 [A/G] NM_001256619,NM_138469,NM_014472,NM_001256620,NM_001256621 R3HCC1L,R3HCC1L,R3HCC1L,R3HCC1L,R3HCC1L EXON Missense_V155M,Missense_V155M,Missense_V155M,Missense_V155M,Silent exm847359 10 99968405 [A/T] NM_001256619,NM_138469,NM_014472,NM_001256620,NM_001256621 R3HCC1L,R3HCC1L,R3HCC1L,R3HCC1L,R3HCC1L EXON Missense_K178N,Missense_K178N,Missense_K178N,Missense_K178N,Silent exm847365 10 99968491 [T/C] NM_001256619,NM_138469,NM_014472,NM_001256620,NM_001256621 R3HCC1L,R3HCC1L,R3HCC1L,R3HCC1L,R3HCC1L EXON Missense_I207T,Missense_I207T,Missense_I207T,Missense_I207T,Silent exm847366 10 99968535 [A/G] NM_001256619,NM_138469,NM_014472,NM_001256620,NM_001256621 R3HCC1L,R3HCC1L,R3HCC1L,R3HCC1L,R3HCC1L EXON Missense_R222G,Missense_R222G,Missense_R222G,Missense_R222G,Silent exm847369 10 99968585 [A/C] NM_001256619,NM_138469,NM_014472,NM_001256620,NM_001256621 R3HCC1L,R3HCC1L,R3HCC1L,R3HCC1L,R3HCC1L EXON Missense_K238N,Missense_K238N,Missense_K238N,Missense_K238N,Silent exm847370 10 99968601 [G/C] NM_001256619,NM_138469,NM_014472,NM_001256620,NM_001256621 R3HCC1L,R3HCC1L,R3HCC1L,R3HCC1L,R3HCC1L EXON Missense_E244Q,Missense_E244Q,Missense_E244Q,Missense_E244Q,Silent exm847375 10 99968644 [A/G] NM_001256619,NM_138469,NM_014472,NM_001256620,NM_001256621 R3HCC1L,R3HCC1L,R3HCC1L,R3HCC1L,R3HCC1L EXON Missense_N258S,Missense_N258S,Missense_N258S,Missense_N258S,Silent exm847376 10 99968652 [A/G] NM_001256619,NM_138469,NM_014472,NM_001256620,NM_001256621 R3HCC1L,R3HCC1L,R3HCC1L,R3HCC1L,R3HCC1L EXON Missense_S261G,Missense_S261G,Missense_S261G,Missense_S261G,Silent exm847379 10 99968670 [A/G] NM_001256619,NM_138469,NM_014472,NM_001256620,NM_001256621 R3HCC1L,R3HCC1L,R3HCC1L,R3HCC1L,R3HCC1L EXON Missense_T267A,Missense_T267A,Missense_T267A,Missense_T267A,Silent exm847381 10 99968715 [A/G] NM_001256619,NM_138469,NM_014472,NM_001256620,NM_001256621 R3HCC1L,R3HCC1L,R3HCC1L,R3HCC1L,R3HCC1L EXON Missense_V282I,Missense_V282I,Missense_V282I,Missense_V282I,Silent exm847384 10 99968752 [A/G] NM_001256619,NM_138469,NM_014472,NM_001256620,NM_001256621 R3HCC1L,R3HCC1L,R3HCC1L,R3HCC1L,R3HCC1L EXON Missense_N294S,Missense_N294S,Missense_N294S,Missense_N294S,Silent exm847387 10 99968849 [T/G] NM_001256619,NM_138469,NM_014472,NM_001256620,NM_001256621 R3HCC1L,R3HCC1L,R3HCC1L,R3HCC1L,R3HCC1L EXON Missense_S326R,Missense_S326R,Missense_S326R,Missense_S326R,Silent exm847389 10 99968940 [T/C] NM_001256619,NM_138469,NM_014472,NM_001256620,NM_001256621 R3HCC1L,R3HCC1L,R3HCC1L,R3HCC1L,R3HCC1L EXON Missense_H357Y,Missense_H357Y,Missense_H357Y,Missense_H357Y,Silent exm847390 10 99968989 [A/G] NM_001256619,NM_138469,NM_014472,NM_001256620,NM_001256621 R3HCC1L,R3HCC1L,R3HCC1L,R3HCC1L,R3HCC1L EXON Missense_N373S,Missense_N373S,Missense_N373S,Missense_N373S,Silent exm847392 10 99969012 [A/T] NM_001256619,NM_138469,NM_014472,NM_001256620,NM_001256621 R3HCC1L,R3HCC1L,R3HCC1L,R3HCC1L,R3HCC1L EXON Missense_T381S,Missense_T381S,Missense_T381S,Missense_T381S,Silent exm847396 10 99969076 [T/C] NM_001256619,NM_138469,NM_014472,NM_001256620,NM_001256621 R3HCC1L,R3HCC1L,R3HCC1L,R3HCC1L,R3HCC1L EXON Missense_A402V,Missense_A402V,Missense_A402V,Missense_A402V,Silent exm847397 10 99969085 [C/G] NM_001256619,NM_138469,NM_014472,NM_001256620,NM_001256621 R3HCC1L,R3HCC1L,R3HCC1L,R3HCC1L,R3HCC1L EXON Missense_T405S,Missense_T405S,Missense_T405S,Missense_T405S,Silent exm847404 10 99969205 [A/G] NM_001256619,NM_138469,NM_014472,NM_001256620,NM_001256621 R3HCC1L,R3HCC1L,R3HCC1L,R3HCC1L,R3HCC1L EXON Missense_D445G,Missense_D445G,Missense_D445G,Missense_D445G,Silent exm847405 10 99969219 [T/A] NM_001256619,NM_138469,NM_014472,NM_001256620,NM_001256621 R3HCC1L,R3HCC1L,R3HCC1L,R3HCC1L,R3HCC1L EXON Missense_S450C,Missense_S450C,Missense_S450C,Missense_S450C,Silent exm847406 10 99969240 [A/G] NM_001256619,NM_138469,NM_014472,NM_001256620,NM_001256621 R3HCC1L,R3HCC1L,R3HCC1L,R3HCC1L,R3HCC1L EXON Missense_E457K,Missense_E457K,Missense_E457K,Missense_E457K,Silent exm847413 10 99969390 [A/C] NM_001256619,NM_138469,NM_014472,NM_001256620,NM_001256621 R3HCC1L,R3HCC1L,R3HCC1L,R3HCC1L,R3HCC1L EXON Missense_I507L,Missense_I507L,Missense_I507L,Missense_I507L,Silent exm847416 10 99969475 [A/C] NM_001256619,NM_138469,NM_014472,NM_001256620,NM_001256621 R3HCC1L,R3HCC1L,R3HCC1L,R3HCC1L,R3HCC1L EXON Missense_D535A,Missense_D535A,Missense_D535A,Missense_D535A,Silent exm1689625 10 99969488 [A/G] NM_001256619,NM_138469,NM_014472,NM_001256620,NM_001256621 R3HCC1L,R3HCC1L,R3HCC1L,R3HCC1L,R3HCC1L EXON Missense_I539M,Missense_I539M,Missense_I539M,Missense_I539M,Silent exm847418 10 99969498 [G/C] NM_001256619,NM_138469,NM_014472,NM_001256620,NM_001256621 R3HCC1L,R3HCC1L,R3HCC1L,R3HCC1L,R3HCC1L EXON Missense_V543L,Missense_V543L,Missense_V543L,Missense_V543L,Silent exm847419 10 99969507 [T/C] NM_001256619,NM_138469,NM_014472,NM_001256620,NM_001256621 R3HCC1L,R3HCC1L,R3HCC1L,R3HCC1L,R3HCC1L EXON Missense_P546S,Missense_P546S,Missense_P546S,Missense_P546S,Silent exm847422 10 99969568 [A/G] NM_001256619,NM_138469,NM_014472,NM_001256620,NM_001256621 R3HCC1L,R3HCC1L,R3HCC1L,R3HCC1L,R3HCC1L EXON Missense_H566R,Missense_H566R,Missense_H566R,Missense_H566R,Silent exm847426 10 99969588 [A/G] NM_001256619,NM_138469,NM_014472,NM_001256620,NM_001256621 R3HCC1L,R3HCC1L,R3HCC1L,R3HCC1L,R3HCC1L EXON Missense_I573V,Missense_I573V,Missense_I573V,Missense_I573V,Silent exm847434 10 99991408 [A/G] NM_001256619,NM_138469,NM_014472,NM_001256620,NM_001256621 R3HCC1L,R3HCC1L,R3HCC1L,R3HCC1L,R3HCC1L EXON Missense_H656R,Missense_H642R,Missense_H642R,Missense_H642R,Missense_H48R exm847441 10 99995191 [T/C] NM_001256619,NM_138469,NM_014472,NM_001256620,NM_001256621 R3HCC1L,R3HCC1L,R3HCC1L,R3HCC1L,R3HCC1L EXON Missense_A695V,Missense_A681V,Missense_A681V,Missense_A681V,Missense_A87V exm847442 10 99995247 [T/G] NM_001256619,NM_138469,NM_014472,NM_001256620,NM_001256621 R3HCC1L,R3HCC1L,R3HCC1L,R3HCC1L,R3HCC1L EXON Missense_A714S,Missense_A700S,Missense_A700S,Missense_A700S,Missense_A106S exm847445 10 99995786 [T/C] NM_001256619,NM_138469,NM_014472,NM_001256620,NM_001256621 R3HCC1L,R3HCC1L,R3HCC1L,R3HCC1L,R3HCC1L EXON Missense_L726F,Missense_L712F,Missense_L712F,Missense_L712F,Missense_L118F exm847446 10 99995805 [A/G] NM_001256619,NM_138469,NM_014472,NM_001256620,NM_001256621 R3HCC1L,R3HCC1L,R3HCC1L,R3HCC1L,R3HCC1L EXON Missense_R732H,Missense_R718H,Missense_R718H,Missense_R718H,Missense_R124H exm2276121 10 99995882 [A/G] NM_001256619,NM_138469,NM_014472,NM_001256620,NM_001256621 R3HCC1L,R3HCC1L,R3HCC1L,R3HCC1L,R3HCC1L EXON Missense_E758K,Missense_E744K,Missense_E744K,Missense_E744K,Missense_E150K exm847453 10 100003875 [A/G] NM_001256619,NM_138469,NM_014472,NM_001256620,NM_001256621 R3HCC1L,R3HCC1L,R3HCC1L,R3HCC1L,R3HCC1L EXON Missense_R780Q,Missense_R766Q,Missense_R766Q,Missense_R766Q,Missense_R172Q exm847457 10 100008694 [G/C] NM_032211 LOXL4 EXON Missense_R752T exm847464 10 100010909 [T/C] NM_032211 LOXL4 EXON Missense_V705M exm847469 10 100011387 [T/C] NM_032211 LOXL4 EXON Missense_R675Q exm847471 10 100011442 [T/C] NM_032211 LOXL4 EXON Missense_A657T exm847475 10 100013325 [T/C] NM_032211 LOXL4 EXON Nonsense_W607X exm847478 10 100013367 [T/C] NM_032211 LOXL4 EXON Missense_R593Q exm847480 10 100013382 [A/G] NM_032211 LOXL4 EXON Missense_I588T exm847484 10 100013418 [T/G] NM_032211 LOXL4 EXON Missense_Y576S exm847510 10 100016572 [C/G] NM_032211 LOXL4 EXON Missense_Q465E exm847512 10 100016632 [A/G] NM_032211 LOXL4 EXON Missense_R445C exm847517 10 100016695 [A/C] NM_032211 LOXL4 EXON Missense_A424S exm847518 10 100016700 [T/C] NM_032211 LOXL4 EXON Missense_R422H exm847519 10 100017453 [T/G] NM_032211 LOXL4 EXON Missense_D405A exm847523 10 100017514 [A/G] NM_032211 LOXL4 EXON Missense_R385W exm847524 10 100017532 [A/G] NM_032211 LOXL4 EXON Missense_R379C exm847525 10 100017553 [T/G] NM_032211 LOXL4 EXON Missense_P372T exm847527 10 100017749 [T/C] NM_032211 LOXL4 EXON Missense_R365Q exm847533 10 100017875 [T/C] NM_032211 LOXL4 EXON Missense_R323Q exm847538 10 100018779 [T/C] NM_032211 LOXL4 EXON Missense_G303E exm847542 10 100018810 [A/G] NM_032211 LOXL4 EXON Missense_R293C exm847548 10 100018943 [G/C] NM_032211 LOXL4 EXON Missense_Q248H exm847550 10 100018971 [A/G] NM_032211 LOXL4 EXON Missense_T239M exm847556 10 100020694 [T/G] NM_032211 LOXL4 EXON Missense_D216A exm847562 10 100020796 [T/G] NM_032211 LOXL4 EXON Missense_K182T exm847566 10 100020863 [A/G] NM_032211 LOXL4 EXON Missense_R160W exm847570 10 100020880 [T/C] NM_032211 LOXL4 EXON Missense_R154Q exm847574 10 100021842 [T/G] NM_032211 LOXL4 EXON Missense_R136S exm847578 10 100021884 [A/C] NM_032211 LOXL4 EXON Missense_C122G exm847580 10 100021911 [T/C] NM_032211 LOXL4 EXON Missense_G113R exm1667958 10 100021916 [T/C] NM_032211 LOXL4 EXON Missense_Q111R exm847581 10 100021946 [T/C] NM_032211 LOXL4 EXON Missense_R101H exm847589 10 100022548 [T/C] NM_032211 LOXL4 EXON Missense_E77K exm847596 10 100022679 [T/C] NM_032211 LOXL4 EXON Missense_R33Q exm2267122 10 100044136 [A/G] exm847604 10 100143572 [A/C] NM_032709 PYROXD2 EXON Missense_D577Y exm847605 10 100143598 [T/C] NM_032709 PYROXD2 EXON Missense_R568Q exm847606 10 100143599 [A/G] NM_032709 PYROXD2 EXON Nonsense_R568X exm847614 10 100144782 [T/C] NM_032709 PYROXD2 EXON Missense_A533T exm2271337 10 100148004 [T/C] NM_032709 PYROXD2 Silent exm847628 10 100148117 [T/C] NM_032709 PYROXD2 EXON Missense_D481N exm847632 10 100148176 [A/G] NM_032709 PYROXD2 EXON Missense_M461T exm847644 10 100150506 [T/C] NM_032709 PYROXD2 EXON Missense_V381I exm847654 10 100152187 [A/C] NM_032709 PYROXD2 Silent exm847660 10 100152306 [A/C] NM_032709 PYROXD2 EXON Missense_Q315H exm1667995 10 100152748 [G/C] NM_032709 PYROXD2 EXON Missense_A293G exm847667 10 100152788 [A/G] NM_032709 PYROXD2 EXON Missense_W280R exm847675 10 100154962 [A/G] NM_032709 PYROXD2 EXON Missense_P259L exm847682 10 100155168 [A/G] NM_032709 PYROXD2 EXON Missense_L223F exm847685 10 100155206 [T/C] NM_032709 PYROXD2 EXON Missense_R210H exm847690 10 100157224 [T/C] NM_032709 PYROXD2 EXON Missense_R168H exm847692 10 100159885 [T/C] NM_032709 PYROXD2 EXON Missense_A149T exm847706 10 100167367 [A/G] NM_032709 PYROXD2 EXON Missense_P96L exm847729 10 100174765 [T/C] NM_032709 PYROXD2 Silent exm847734 10 100174819 [A/G] NM_032709 PYROXD2 EXON Missense_T25M exm847739 10 100174841 [G/C] NM_032709 PYROXD2 EXON Missense_P18A exm847741 10 100174876 [T/C] NM_032709 PYROXD2 EXON Missense_R6Q exm847747 10 100177358 [T/C] NM_000195 HPS1 EXON Missense_R689Q exm847753 10 100177473 [A/G] NM_000195 HPS1 EXON Missense_R651C exm847755 10 100177944 [T/C] NM_000195 HPS1 EXON Missense_G643E exm847756 10 100177957 [T/C] NM_000195 HPS1 EXON Missense_G639S exm847760 10 100177975 [T/C] NM_000195 HPS1 EXON Missense_D633N exm847762 10 100177984 [T/C] NM_000195 HPS1 EXON Missense_V630I exm847764 10 100179851 [T/C] NM_000195 HPS1 EXON Missense_Q603R exm847784 10 100183570 [C/G] NM_000195 HPS1 EXON Missense_P491R exm847785 10 100183594 [T/C] NM_000195 HPS1 EXON Missense_R483Q exm847789 10 100183636 [T/C] NM_000195 HPS1 EXON Missense_Q469R exm847796 10 100185347 [T/C] NM_000195 HPS1 EXON Missense_R429H exm847797 10 100185368 [T/C] NM_000195 HPS1 EXON Missense_Q422R exm2216513 10 100187007 [C/G] NM_000195 HPS1 EXON Missense_L318V exm847816 10 100189341 [T/C] NM_000195,NM_182639 HPS1,HPS1 EXON Missense_D309G,Missense_D309G exm847826 10 100189628 [A/G] NM_000195,NM_182639 HPS1,HPS1 EXON Missense_R263W,Missense_R263W exm847827 10 100189636 [T/C] NM_000195,NM_182639 HPS1,HPS1 EXON Missense_R260Q,Missense_R260Q exm847836 10 100190416 [A/C] NM_000195,NM_182639 HPS1,HPS1 EXON Missense_S227I,Missense_S227I exm847837 10 100190417 [T/C] NM_000195,NM_182639 HPS1,HPS1 EXON Missense_S227G,Missense_S227G exm847847 10 100190999 [A/G] NM_000195,NM_182639 HPS1,HPS1 EXON Missense_A186V,Missense_A186V exm847853 10 100193769 [A/G] NM_000195,NM_182639 HPS1,HPS1 EXON Missense_R160W,Missense_R160W exm847854 10 100193774 [T/C] NM_000195,NM_182639 HPS1,HPS1 EXON Missense_R158H,Missense_R158H exm847871 10 100195525 [A/G] NM_000195,NM_182639 HPS1,HPS1 EXON Missense_P41L,Missense_P41L exm847873 10 100202918 [T/C] NM_000195,NM_182639 HPS1,HPS1 EXON Missense_R27Q,Missense_R27Q exm847876 10 100202971 [G/C] NM_000195,NM_182639 HPS1,HPS1 EXON Missense_E9D,Missense_E9D exm847878 10 100202987 [A/G] NM_000195,NM_182639 HPS1,HPS1 EXON Missense_V4A,Missense_V4A exm847884 10 100219341 [T/C] NM_001166245,NM_001166244,NM_001166246,NM_021828 HPSE2,HPSE2,HPSE2,HPSE2 EXON Missense_R478H,Missense_R532H,Silent,Missense_R590H exm847886 10 100219374 [T/A] NM_001166245,NM_001166244,NM_001166246,NM_021828 HPSE2,HPSE2,HPSE2,HPSE2 EXON Missense_Y467F,Missense_Y521F,Silent,Missense_Y579F exm847896 10 100219492 [G/C] NM_001166245,NM_001166244,NM_001166246,NM_021828 HPSE2,HPSE2,HPSE2,HPSE2 EXON Missense_V428L,Missense_V482L,Silent,Missense_V540L exm847909 10 100242526 [A/G] NM_001166245,NM_001166244,NM_001166246,NM_021828 HPSE2,HPSE2,HPSE2,HPSE2 EXON Missense_R382C,Missense_R436C,Missense_R494C,Missense_R494C exm847932 10 100401680 [T/C] NM_001166245,NM_001166244,NM_001166246,NM_021828 HPSE2,HPSE2,HPSE2,HPSE2 EXON Missense_R229Q,Missense_R283Q,Missense_R341Q,Missense_R341Q exm847936 10 100481427 [T/C] NM_001166245,NM_001166244,NM_001166246,NM_021828 HPSE2,HPSE2,HPSE2,HPSE2 EXON Missense_A203T,Missense_A257T,Missense_A315T,Missense_A315T exm847939 10 100481475 [T/C] NM_001166245,NM_001166244,NM_001166246,NM_021828 HPSE2,HPSE2,HPSE2,HPSE2 EXON Missense_A187T,Missense_A241T,Missense_A299T,Missense_A299T exm2216515 10 100503697 [A/T] NM_001166245,NM_001166244,NM_001166246,NM_021828 HPSE2,HPSE2,HPSE2,HPSE2 EXON Silent,Silent,Missense_S243C,Missense_S243C exm847950 10 100503793 [A/G] NM_001166245,NM_001166244,NM_001166246,NM_021828 HPSE2,HPSE2,HPSE2,HPSE2 EXON Silent,Silent,Missense_Y211H,Missense_Y211H exm2271338 10 100684443 [T/C] NM_001166245,NM_001166244,NM_001166246,NM_021828 HPSE2,HPSE2,HPSE2,HPSE2 Silent,Silent,Silent,Silent exm847973 10 100995498 [T/C] NM_001166245,NM_001166244,NM_001166246,NM_021828 HPSE2,HPSE2,HPSE2,HPSE2 EXON Missense_C21Y,Missense_C21Y,Missense_C21Y,Missense_C21Y exm2276122 10 100995505 [A/G] NM_001166245,NM_001166244,NM_001166246,NM_021828 HPSE2,HPSE2,HPSE2,HPSE2 EXON Missense_P19S,Missense_P19S,Missense_P19S,Missense_P19S exm2259508 10 101048492 [A/G] exm848001 10 101090123 [C/G] NM_020348 CNNM1 EXON Missense_P327A exm848003 10 101090246 [A/G] NM_020348 CNNM1 EXON Missense_A368T exm848007 10 101090322 [T/C] NM_020348 CNNM1 EXON Missense_T393M exm1668105 10 101117384 [A/G] NM_020348 CNNM1 EXON Synonymous_S563S exm2248988 10 101117384 [A/G] NM_020348 CNNM1 EXON Synonymous_S563S exm848038 10 101122064 [G/C] NM_020348 CNNM1 EXON Missense_L647V exm848043 10 101124231 [A/G] NM_020348 CNNM1 EXON Missense_T696A exm848061 10 101147692 [A/G] NM_020348 CNNM1 EXON Missense_R819Q exm848065 10 101147759 [A/G] NM_020348 CNNM1 EXON Synonymous_P841P exm848076 10 101148023 [T/C] NM_020348 CNNM1 EXON Missense_L880P exm848083 10 101150122 [A/G] NM_020348 CNNM1 EXON Missense_D912N exm848091 10 101157438 [C/G] NM_002079 GOT1 EXON Missense_Q370E exm848095 10 101162450 [T/C] NM_002079 GOT1 EXON Missense_R330Q exm848109 10 101163627 [T/C] NM_002079 GOT1 EXON Missense_R216Q exm848115 10 101165559 [A/G] NM_002079 GOT1 EXON Missense_I199T exm848117 10 101165607 [T/C] NM_002079 GOT1 EXON Missense_E183G exm848119 10 101165952 [T/C] NM_002079 GOT1 EXON Missense_R160H exm848128 10 101180424 [T/C] NM_002079 GOT1 EXON Missense_R86H exm1668147 10 101180501 [A/C] NM_002079 GOT1 EXON Missense_K60N exm-rs4409764 10 101284237 [T/G] exm-rs10883365 10 101287764 [A/G] exm-rs6584283 10 101290301 [T/C] exm-rs11190140 10 101291593 [T/C] exm848140 10 101293033 [A/G] NM_145285 NKX2-3 EXON Missense_A49T exm848149 10 101294816 [A/C] NM_145285 NKX2-3 EXON Missense_P145T exm848159 10 101295143 [G/C] NM_145285 NKX2-3 EXON Missense_A254P exm848183 10 101372305 [A/G] NM_031212 SLC25A28 EXON Missense_A191V exm848201 10 101379915 [T/C] NM_031212 SLC25A28 EXON Missense_G60S exm848211 10 101421279 [A/G] NM_020354 ENTPD7 EXON Missense_V29M exm848212 10 101421288 [A/C] NM_020354 ENTPD7 EXON Missense_L32M exm848213 10 101421324 [A/G] NM_020354 ENTPD7 EXON Missense_M44V exm848216 10 101421367 [A/G] NM_020354 ENTPD7 EXON Missense_R58Q exm848237 10 101451259 [T/C] NM_020354 ENTPD7 EXON Missense_V276A exm848246 10 101458292 [T/C] NM_020354 ENTPD7 EXON Synonymous_L338L exm1668179 10 101458294 [C/G] NM_020354 ENTPD7 EXON Missense_L338F exm848252 10 101458358 [T/C] NM_020354 ENTPD7 EXON Missense_L360F exm848276 10 101462415 [A/G] NM_020354 ENTPD7 EXON Missense_R523Q exm848285 10 101464358 [A/G] NM_020354 ENTPD7 EXON Missense_R578Q exm848294 10 101473218 [A/G] NM_004376,NM_078470 COX15,COX15 EXON Missense_F374L,Silent exm848295 10 101473222 [G/C] NM_004376,NM_078470 COX15,COX15 EXON Missense_F372L,Silent exm848306 10 101476166 [A/G] NM_004376,NM_078470 COX15,COX15 EXON Missense_I347T,Missense_I347T exm848312 10 101478161 [C/G] NM_004376,NM_078470 COX15,COX15 EXON Missense_P310R,Missense_P310R exm848316 10 101480791 [T/C] NM_004376,NM_078470 COX15,COX15 EXON Missense_R262Q,Missense_R262Q exm848322 10 101483777 [T/G] NM_004376,NM_078470 COX15,COX15 EXON Nonsense_S229X,Nonsense_S229X exm848323 10 101483799 [A/G] NM_004376,NM_078470 COX15,COX15 EXON Missense_R222C,Missense_R222C exm848324 10 101483814 [A/G] NM_004376,NM_078470 COX15,COX15 EXON Missense_R217W,Missense_R217W exm848325 10 101486759 [T/C] NM_004376,NM_078470 COX15,COX15 EXON Missense_R183H,Missense_R183H exm848331 10 101486855 [G/C] NM_004376,NM_078470 COX15,COX15 EXON Nonsense_S151X,Nonsense_S151X exm848336 10 101487264 [A/G] NM_004376,NM_078470 COX15,COX15 EXON Missense_P110L,Missense_P110L exm848345 10 101489451 [T/C] NM_004376,NM_078470 COX15,COX15 EXON Missense_S44N,Missense_S44N exm848348 10 101489476 [A/G] NM_004376,NM_078470 COX15,COX15 EXON Missense_R36C,Missense_R36C exm2271340 10 101492403 [T/G] NM_004376,NM_078470,NM_015960 COX15,COX15,CUTC EXON Silent,Silent,Silent exm848371 10 101502969 [T/C] NM_015960 CUTC EXON Missense_R85W exm848374 10 101503086 [T/C] NM_015960 CUTC EXON Missense_H124Y exm848393 10 101544387 [T/C] NM_000392 ABCC2 EXON Missense_P19L exm848399 10 101544447 [A/T] NM_000392 ABCC2 EXON Missense_Y39F exm848414 10 101553343 [T/G] NM_000392 ABCC2 EXON Missense_W123C exm848436 10 101556984 [T/C] NM_000392 ABCC2 EXON Missense_R255W exm848442 10 101557063 [A/G] NM_000392 ABCC2 EXON Missense_S281N exm848456 10 101560169 [A/G] NM_000392 ABCC2 EXON Missense_R353H exm848460 10 101560271 [A/G] NM_000392 ABCC2 EXON Missense_K387R exm848462 10 101563783 [C/G] NM_000392 ABCC2 EXON Missense_T406S exm848464 10 101563815 [A/G] NM_000392 ABCC2 EXON Missense_V417I exm848465 10 101563816 [T/C] NM_000392 ABCC2 EXON Missense_V417A exm2216524 10 101564023 [T/C] NM_000392 ABCC2 EXON Missense_T486I exm848475 10 101565157 [A/G] NM_000392 ABCC2 EXON Missense_K495E exm848476 10 101565167 [A/G] NM_000392 ABCC2 EXON Missense_R498H exm848479 10 101567212 [T/G] NM_000392 ABCC2 EXON Missense_K534N exm848498 10 101571360 [A/G] NM_000392 ABCC2 Silent exm848502 10 101572816 [T/C] NM_000392 ABCC2 EXON Missense_I670T exm848509 10 101578554 [A/G] NM_000392 ABCC2 EXON Missense_N760S exm848512 10 101578641 [T/C] NM_000392 ABCC2 EXON Missense_S789F exm848514 10 101578683 [T/C] NM_000392 ABCC2 EXON Missense_V803A exm848515 10 101578695 [A/G] NM_000392 ABCC2 EXON Missense_N807S exm848518 10 101578872 [C/G] NM_000392 ABCC2 EXON Missense_M822I exm848522 10 101578952 [T/G] NM_000392 ABCC2 EXON Missense_L849R exm1668284 10 101590157 [A/G] NM_000392 ABCC2 EXON Missense_R905K exm848535 10 101590172 [A/G] NM_000392 ABCC2 EXON Missense_R910H exm848536 10 101590186 [T/C] NM_000392 ABCC2 EXON Missense_R915C exm848539 10 101590486 [A/G] NM_000392 ABCC2 EXON Missense_G921S exm848543 10 101590538 [A/G] NM_000392 ABCC2 EXON Missense_S938N exm848548 10 101591428 [A/G] NM_000392 ABCC2 EXON Missense_I982V exm848555 10 101591492 [T/G] NM_000392 ABCC2 EXON Missense_W1003L exm848556 10 101591510 [T/C] NM_000392 ABCC2 EXON Missense_I1009T exm848557 10 101591541 [C/G] NM_000392 ABCC2 EXON Missense_Q1019H exm848562 10 101591737 [T/C] NM_000392 ABCC2 EXON Missense_I1036T exm848567 10 101591818 [A/G] NM_000392 ABCC2 EXON Missense_N1063S exm848568 10 101591826 [T/C] NM_000392 ABCC2 EXON Nonsense_R1066X exm848569 10 101591866 [A/G] NM_000392 ABCC2 EXON Missense_R1079Q exm848570 10 101591869 [T/C] NM_000392 ABCC2 EXON Missense_I1080T exm848574 10 101594176 [T/C] NM_000392 ABCC2 EXON Missense_R1100C exm1668299 10 101595881 [T/C] NM_000392 ABCC2 EXON Missense_R1150C exm848594 10 101595933 [T/C] NM_000392 ABCC2 EXON Missense_V1167A exm848595 10 101595954 [A/G] NM_000392 ABCC2 EXON Missense_R1174H exm2276123 10 101595975 [A/G] NM_000392 ABCC2 EXON Missense_R1181Q exm848601 10 101595996 [T/A] NM_000392 ABCC2 EXON Missense_V1188E exm2276124 10 101601757 [A/C] NM_000392 ABCC2 EXON Missense_N1216K exm848613 10 101603631 [A/G] NM_000392 ABCC2 EXON Missense_T1273A exm848616 10 101604107 [T/C] NM_000392 ABCC2 EXON Missense_P1291L exm848627 10 101605464 [G/C] NM_000392 ABCC2 EXON Missense_Q1357H exm848628 10 101605468 [A/C] NM_000392 ABCC2 EXON Missense_I1359L exm848629 10 101605496 [T/C] NM_000392 ABCC2 EXON Missense_I1368T exm848644 10 101610475 [T/C] NM_000392 ABCC2 EXON Missense_T1477M exm848653 10 101611294 [A/G] NM_000392 ABCC2 EXON Missense_C1515Y exm848655 10 101611296 [A/G] NM_000392 ABCC2 EXON Missense_G1516S exm848667 10 101637089 [T/C] NM_015221 DNMBP EXON Missense_Y1518C exm848672 10 101639648 [T/C] NM_015221 DNMBP EXON Missense_V1490I exm848676 10 101639731 [A/G] NM_015221 DNMBP EXON Missense_T1462M exm848679 10 101639845 [A/G] NM_015221 DNMBP EXON Missense_P1424L exm848680 10 101639877 [A/C] NM_015221 DNMBP EXON Missense_C1413W exm848684 10 101639929 [A/G] NM_015221 DNMBP EXON Missense_S1396L exm848685 10 101639971 [A/G] NM_015221 DNMBP EXON Missense_T1382I exm848686 10 101639978 [T/C] NM_015221 DNMBP EXON Missense_G1380S exm848703 10 101643875 [T/C] NM_015221 DNMBP EXON Missense_N1297S exm848716 10 101646205 [T/C] NM_015221 DNMBP EXON Missense_Y1157C exm848721 10 101646265 [T/C] NM_015221 DNMBP EXON Missense_R1137Q exm848725 10 101646368 [A/C] NM_015221 DNMBP EXON Missense_V1103F exm848726 10 101646373 [T/C] NM_015221 DNMBP EXON Missense_R1101Q exm848730 10 101648658 [A/G] NM_015221 DNMBP EXON Missense_M1070T exm848751 10 101658021 [G/C] NM_015221 DNMBP EXON Missense_N914K exm848765 10 101667814 [A/G] NM_015221 DNMBP EXON Missense_M831T exm848766 10 101667847 [A/G] NM_015221 DNMBP EXON Missense_P820L exm848768 10 101668723 [A/G] NM_015221 DNMBP EXON Missense_M814T exm848787 10 101715037 [C/G] NM_015221,NR_024130 DNMBP,DNMBP-AS1 EXON Missense_L732V,Silent exm848791 10 101715124 [A/G] NM_015221,NR_024130 DNMBP,DNMBP-AS1 EXON Missense_R703W,Silent exm848796 10 101715249 [T/C] NM_015221,NR_024130 DNMBP,DNMBP-AS1 EXON Missense_K661R,Silent exm848806 10 101715396 [A/G] NM_015221,NR_024130 DNMBP,DNMBP-AS1 EXON Missense_P612L,Silent exm848812 10 101715453 [A/G] NM_015221,NR_024130 DNMBP,DNMBP-AS1 EXON Missense_S593L,Silent exm848823 10 101715752 [T/G] NM_015221,NR_024130 DNMBP,DNMBP-AS1 EXON Missense_R493S,Silent exm848826 10 101715835 [A/C] NM_015221,NR_024130 DNMBP,DNMBP-AS1 EXON Missense_S466A,Silent exm848831 10 101715928 [T/C] NM_015221,NR_024130 DNMBP,DNMBP-AS1 EXON Missense_G435R,Silent exm848839 10 101716063 [T/C] NM_015221,NR_024130 DNMBP,DNMBP-AS1 EXON Missense_V390M,Silent exm848843 10 101716099 [T/C] NM_015221,NR_024130 DNMBP,DNMBP-AS1 EXON Missense_E378K,Silent exm848844 10 101716112 [G/C] NM_015221,NR_024130 DNMBP,DNMBP-AS1 EXON Missense_N373K,Silent exm848848 10 101716215 [T/C] NM_015221,NR_024130 DNMBP,DNMBP-AS1 EXON Missense_H339R,Silent exm848853 10 101716368 [T/C] NM_015221,NR_024130 DNMBP,DNMBP-AS1 EXON Missense_R288K,Silent exm848856 10 101716438 [T/C] NM_015221,NR_024130 DNMBP,DNMBP-AS1 EXON Missense_E265K,Silent exm848862 10 101716668 [T/G] NM_015221,NR_024130 DNMBP,DNMBP-AS1 EXON Missense_E188A,Silent exm848864 10 101716711 [T/C] NM_015221,NR_024130 DNMBP,DNMBP-AS1 EXON Missense_I174V,Silent exm848878 10 101716897 [T/C] NM_015221,NR_024130 DNMBP,DNMBP-AS1 EXON Missense_A112T,Silent exm848879 10 101728897 [A/C] NM_015221 DNMBP EXON Missense_E81D exm848890 10 101731817 [A/G] NM_015221 DNMBP EXON Missense_P22L exm848893 10 101731878 [T/C] NM_015221 DNMBP EXON Missense_E2K exm-rs11599750 10 101805442 [T/C] NM_001308 CPN1 Silent exm848901 10 101808519 [A/G] NM_001308 CPN1 EXON Missense_T409M exm848908 10 101814105 [T/C] NM_001308 CPN1 EXON Synonymous_S370S exm848911 10 101816805 [T/C] NM_001308 CPN1 EXON Missense_G326S exm848932 10 101829514 [T/C] NM_001308 CPN1 EXON Missense_G178D exm848943 10 101835766 [A/G] NM_001308 CPN1 EXON Missense_R108W exm848961 10 101841232 [T/C] NM_001308 CPN1 EXON Missense_I51V exm-rs11597390 10 101861435 [A/G] exm2216534 10 101911920 [T/C] NM_006459,NM_001100626 ERLIN1,ERLIN1 EXON Missense_N339D,Missense_N339D exm848969 10 101912064 [T/C] NM_006459,NM_001100626 ERLIN1,ERLIN1 EXON Missense_I291V,Missense_I291V exm848998 10 101950636 [T/C] NM_001278 CHUK EXON Missense_N733S exm849007 10 101953109 [A/G] NM_001278 CHUK EXON Missense_P685L exm849054 10 101977766 [T/C] NM_001278 CHUK EXON Missense_I307V exm849056 10 101977883 [T/C] NM_001278 CHUK EXON Missense_V268I exm849061 10 101980355 [A/G] NM_001278 CHUK EXON Missense_V155A exm849066 10 101981878 [T/A] NM_001278 CHUK EXON Missense_S126C exm849079 10 101993024 [T/C] NM_018294 CWF19L1 EXON Missense_R526Q exm849080 10 101993033 [T/C] NM_018294 CWF19L1 EXON Missense_R523H exm849083 10 101993090 [A/T] NM_018294 CWF19L1 EXON Missense_D504V exm849099 10 102003456 [T/C] NM_018294 CWF19L1 EXON Missense_H348R exm849107 10 102005577 [A/G] NM_018294 CWF19L1 EXON Missense_P315S exm849108 10 102005580 [A/G] NM_018294 CWF19L1 EXON Missense_H314Y exm849112 10 102006583 [A/G] NM_018294 CWF19L1 EXON Missense_A273V exm849115 10 102006625 [A/G] NM_018294 CWF19L1 EXON Missense_P259L exm849122 10 102013179 [A/G] NM_018294 CWF19L1 EXON Nonsense_R208X exm849133 10 102016044 [T/C] NM_018294 CWF19L1 EXON Missense_C160Y exm849135 10 102016086 [A/T] NM_018294 CWF19L1 EXON Missense_F146Y exm849143 10 102020007 [T/C] NM_018294 CWF19L1 EXON Missense_G86E exm849151 10 102021821 [G/C] NM_018294 CWF19L1 Silent exm849171 10 102046380 [T/G] NR_046315,NR_046314,NM_173809 BLOC1S2,BLOC1S2,BLOC1S2 EXON Silent,Silent,Missense_S13R exm849183 10 102048184 [T/C] NM_016112,NM_001253837 PKD2L1,PKD2L1 EXON Missense_R796H,Missense_R749H exm849184 10 102048185 [A/G] NM_016112,NM_001253837 PKD2L1,PKD2L1 EXON Missense_R796C,Missense_R749C exm849187 10 102048191 [T/G] NM_016112,NM_001253837 PKD2L1,PKD2L1 EXON Missense_L794I,Missense_L747I exm849188 10 102048208 [T/G] NM_016112,NM_001253837 PKD2L1,PKD2L1 EXON Missense_A788D,Missense_A741D exm849207 10 102050242 [A/C] NM_016112,NM_001253837 PKD2L1,PKD2L1 EXON Missense_R681L,Missense_R634L exm849209 10 102051092 [T/A] NM_016112,NM_001253837 PKD2L1,PKD2L1 EXON Missense_Q658L,Missense_Q611L exm849210 10 102051099 [T/C] NM_016112,NM_001253837 PKD2L1,PKD2L1 EXON Missense_K656E,Missense_K609E exm849211 10 102051114 [A/G] NM_016112,NM_001253837 PKD2L1,PKD2L1 EXON Missense_R651C,Missense_R604C exm849218 10 102052799 [A/G] NM_016112,NM_001253837 PKD2L1,PKD2L1 EXON Missense_R596C,Missense_R549C exm849223 10 102053131 [A/C] NM_016112,NM_001253837 PKD2L1,PKD2L1 EXON Missense_M555I,Missense_M508I exm849225 10 102054300 [T/C] NM_016112,NM_001253837 PKD2L1,PKD2L1 EXON Missense_V551M,Missense_V504M exm849227 10 102054309 [T/C] NM_016112,NM_001253837 PKD2L1,PKD2L1 EXON Missense_V548I,Missense_V501I exm849229 10 102054324 [T/C] NM_016112,NM_001253837 PKD2L1,PKD2L1 EXON Missense_T543A,Missense_T496A exm849242 10 102054823 [A/G] NM_016112,NM_001253837 PKD2L1,PKD2L1 EXON Missense_R472C,Missense_R425C exm1668531 10 102055890 [A/C] NM_016112,NM_001253837 PKD2L1,PKD2L1 EXON Missense_A449S,Missense_A402S exm849253 10 102056016 [A/G] NM_016112,NM_001253837 PKD2L1,PKD2L1 EXON Nonsense_R407X,Nonsense_R360X exm849255 10 102056033 [A/C] NM_016112,NM_001253837 PKD2L1,PKD2L1 EXON Missense_V401G,Missense_V354G exm849257 10 102056745 [T/C] NM_016112,NM_001253837 PKD2L1,PKD2L1 EXON Missense_V393I,Missense_V346I exm849259 10 102056784 [A/G] NM_016112,NM_001253837 PKD2L1,PKD2L1 EXON Missense_R380C,Missense_R333C exm849260 10 102056790 [A/G] NM_016112,NM_001253837 PKD2L1,PKD2L1 EXON Missense_R378W,Missense_R331W exm849263 10 102056865 [T/C] NM_016112,NM_001253837 PKD2L1,PKD2L1 EXON Missense_V353I,Missense_V306I exm849265 10 102056888 [T/A] NM_016112,NM_001253837 PKD2L1,PKD2L1 EXON Missense_V345D,Missense_V298D exm849267 10 102056913 [A/G] NM_016112,NM_001253837 PKD2L1,PKD2L1 EXON Missense_R337C,Missense_R290C exm849273 10 102057157 [T/C] NM_016112,NM_001253837 PKD2L1,PKD2L1 EXON Missense_N313S,Missense_N266S exm1668543 10 102057199 [C/G] NM_016112,NM_001253837 PKD2L1,PKD2L1 EXON Missense_R299P,Missense_R252P exm849275 10 102057238 [T/C] NM_016112,NM_001253837 PKD2L1,PKD2L1 EXON Missense_R286Q,Missense_R239Q exm849277 10 102057262 [T/C] NM_016112,NM_001253837 PKD2L1,PKD2L1 EXON Missense_R278Q,Missense_R231Q exm849287 10 102057362 [A/C] NM_016112,NM_001253837 PKD2L1,PKD2L1 EXON Missense_W245G,Missense_W198G exm849294 10 102058433 [T/C] NM_016112,NM_001253837 PKD2L1,PKD2L1 EXON Missense_R206H,Missense_R159H exm849295 10 102058449 [A/G] NM_016112,NM_001253837 PKD2L1,PKD2L1 EXON Missense_R201W,Missense_R154W exm849304 10 102059412 [A/C] NM_016112,NM_001253837 PKD2L1,PKD2L1 EXON Nonsense_L138X,Nonsense_L91X exm849309 10 102088968 [A/G] NM_016112,NM_001253837 PKD2L1,PKD2L1 EXON Synonymous_L117L,Synonymous_L70L exm849310 10 102088994 [A/G] NM_016112,NM_001253837 PKD2L1,PKD2L1 EXON Missense_I108T,Missense_I61T exm849319 10 102089635 [A/C] NM_016112,NM_001253837 PKD2L1,PKD2L1 EXON Missense_G76C,Missense_K21N exm849322 10 102089682 [A/G] NM_016112,NM_001253837 PKD2L1,PKD2L1 EXON Missense_T60M,Missense_R6W exm849324 10 102089718 [C/G] NM_016112,NM_001253837 PKD2L1,PKD2L1 EXON Missense_P48R,Silent exm-rs735877 10 102104521 [T/C] exm849342 10 102107997 [A/G] NM_005063 SCD EXON Synonymous_K68K exm849356 10 102116311 [A/C] NM_005063 SCD EXON Missense_M224L exm849369 10 102222957 [G/C] NM_003393 WNT8B EXON Missense_C11S exm1668581 10 102240872 [T/G] NM_003393 WNT8B EXON Missense_G120V exm849408 10 102242519 [A/C] NM_003393 WNT8B EXON Missense_S334R exm849417 10 102247408 [A/C] NM_015490 SEC31B EXON Missense_A1169S exm849419 10 102247438 [T/C] NM_015490 SEC31B EXON Missense_E1159K exm849432 10 102247813 [A/G] NM_015490 SEC31B EXON Missense_Y1111H exm849433 10 102247821 [T/C] NM_015490 SEC31B EXON Missense_R1108H exm849442 10 102248641 [A/G] NM_015490 SEC31B EXON Missense_R1088C exm849444 10 102248652 [A/G] NM_015490 SEC31B EXON Missense_A1084V exm1668596 10 102248664 [T/C] NM_015490 SEC31B EXON Missense_S1080N exm849456 10 102249083 [A/T] NM_015490 SEC31B EXON Missense_I1033F exm849459 10 102249104 [A/G] NM_015490 SEC31B EXON Missense_L1026F exm849468 10 102249835 [T/G] NM_015490 SEC31B EXON Nonsense_Y965X exm849470 10 102249885 [A/G] NM_015490 SEC31B EXON Missense_R949C exm849486 10 102250463 [T/C] NM_015490 SEC31B EXON Missense_A884T exm849492 10 102250606 [T/G] NM_015490 SEC31B EXON Missense_T836N exm849495 10 102255200 [A/G] NM_015490 SEC31B EXON Missense_A805V exm849497 10 102255210 [A/C] NM_015490 SEC31B EXON Missense_V802F exm849498 10 102255216 [C/G] NM_015490 SEC31B EXON Missense_R800G exm849516 10 102256169 [A/G] NM_015490 SEC31B EXON Missense_M719T exm849522 10 102256948 [A/G] NM_015490 SEC31B EXON Missense_R694W exm849524 10 102256987 [T/C] NM_015490 SEC31B EXON Missense_E681K exm849542 10 102257820 [T/C] NM_015490 SEC31B EXON Missense_R610H exm849543 10 102257821 [A/G] NM_015490 SEC31B EXON Missense_R610C exm849544 10 102257827 [G/C] NM_015490 SEC31B EXON Missense_Q608E exm849546 10 102257890 [A/C] NM_015490 SEC31B EXON Nonsense_E587X exm1668623 10 102257964 [A/T] NM_015490 SEC31B EXON Missense_D562V exm849559 10 102258922 [T/G] NM_015490 SEC31B EXON Missense_S527R exm849560 10 102258991 [T/C] NM_015490 SEC31B EXON Missense_V504M exm849567 10 102259333 [C/G] NM_015490 SEC31B EXON Missense_R478T exm849569 10 102262015 [A/G] NM_015490 SEC31B EXON Missense_L469P exm849570 10 102262123 [T/C] NM_015490 SEC31B EXON Missense_R433Q exm849573 10 102262181 [A/G] NM_015490 SEC31B EXON Missense_P414S exm849582 10 102265826 [A/C] NM_015490 SEC31B EXON Nonsense_E339X exm849584 10 102265847 [A/C] NM_015490 SEC31B EXON Missense_S332A exm849591 10 102267254 [T/C] NM_015490 SEC31B EXON Missense_R237Q exm849597 10 102267805 [G/C] NM_015490 SEC31B EXON Missense_P167A exm849599 10 102268804 [T/C] NM_015490 SEC31B EXON Missense_N152S exm849602 10 102268855 [T/C] NM_015490 SEC31B EXON Missense_N135S exm849603 10 102269085 [A/C] NM_015490 SEC31B EXON Missense_L129F exm849605 10 102269110 [A/G] NM_015490 SEC31B EXON Missense_T121M exm849608 10 102269149 [A/G] NM_015490 SEC31B EXON Missense_S108L exm849609 10 102269168 [G/C] NM_015490 SEC31B EXON Missense_V102L exm849610 10 102269173 [T/C] NM_015490 SEC31B EXON Missense_Y100C exm849612 10 102269182 [A/C] NM_015490 SEC31B EXON Missense_L97R exm1668656 10 102269198 [T/C] NM_015490 SEC31B EXON Missense_G92R exm849615 10 102269201 [T/C] NM_015490 SEC31B EXON Missense_G91S exm849617 10 102269206 [A/G] NM_015490 SEC31B EXON Missense_V89A exm1668660 10 102275940 [C/G] NM_015490 SEC31B EXON Missense_T39R exm2216547 10 102276675 [T/C] NM_015490 SEC31B EXON Missense_Q12R exm849627 10 102276687 [T/C] NM_015490 SEC31B EXON Missense_R8Q exm849632 10 102286179 [T/C] NM_005004 NDUFB8 EXON Missense_V149M exm849635 10 102286251 [T/A] NM_005004 NDUFB8 EXON Missense_S125T exm849636 10 102286256 [C/G] NM_005004 NDUFB8 EXON Missense_P123R exm2216548 10 102286733 [A/G] NM_005004 NDUFB8 EXON Missense_P104L exm849661 10 102289587 [C/G] NM_005004 NDUFB8 EXON Missense_V8L exm849673 10 102295836 [G/C] NM_017902 HIF1AN EXON Missense_P41A exm849692 10 102304815 [G/C] NM_017902 HIF1AN EXON Missense_P229A exm849702 10 102307870 [A/G] NM_017902 HIF1AN EXON Synonymous_T342T exm2248992 10 102307870 [A/G] NM_017902 HIF1AN EXON Synonymous_T342T exm2267037 10 102375258 [A/G] exm-rs4509693 10 102501571 [T/C] exm1668718 10 102566298 [A/G] NM_003988,NM_000278,NM_003990,NM_003989,NM_003987 PAX2,PAX2,PAX2,PAX2,PAX2 EXON Missense_R243Q,Missense_R243Q,Missense_R266Q,Missense_R243Q,Missense_R266Q exm849750 10 102584417 [T/C] NM_003988,NM_000278,NM_003990,NM_003989,NM_003987 PAX2,PAX2,PAX2,PAX2,PAX2 EXON Missense_A311V,Missense_A311V,Missense_A334V,Missense_A311V,Missense_A334V exm849770 10 102587428 [C/G] NM_003988,NM_000278,NM_003990,NM_003989,NM_003987 PAX2,PAX2,PAX2,PAX2,PAX2 EXON Silent,Silent,Missense_I429M,Missense_I406M,Silent exm2259511 10 102621414 [T/C] exm849785 10 102676558 [T/C] NM_018121,NM_001136123 FAM178A,FAM178A EXON Missense_A139V,Missense_A139V exm849788 10 102676576 [A/G] NM_018121,NM_001136123 FAM178A,FAM178A EXON Missense_K145R,Missense_K145R exm849789 10 102676587 [A/T] NM_018121,NM_001136123 FAM178A,FAM178A EXON Missense_I149F,Missense_I149F exm849790 10 102676591 [A/G] NM_018121,NM_001136123 FAM178A,FAM178A EXON Missense_Y150C,Missense_Y150C exm849792 10 102676722 [A/G] NM_018121,NM_001136123 FAM178A,FAM178A EXON Missense_N194D,Missense_N194D exm849795 10 102676783 [A/G] NM_018121,NM_001136123 FAM178A,FAM178A EXON Missense_R214K,Missense_R214K exm849797 10 102676822 [T/C] NM_018121,NM_001136123 FAM178A,FAM178A EXON Missense_P227L,Missense_P227L exm849804 10 102676995 [T/C] NM_018121,NM_001136123 FAM178A,FAM178A EXON Missense_P285S,Missense_P285S exm849805 10 102676996 [T/C] NM_018121,NM_001136123 FAM178A,FAM178A EXON Missense_P285L,Missense_P285L exm849813 10 102683920 [T/C] NM_018121,NM_001136123 FAM178A,FAM178A EXON Missense_R388C,Missense_R388C exm849815 10 102683999 [A/G] NM_018121,NM_001136123 FAM178A,FAM178A EXON Missense_N414S,Missense_N414S exm849834 10 102684454 [A/G] NM_018121,NM_001136123 FAM178A,FAM178A EXON Missense_I566V,Missense_I566V exm849836 10 102684518 [A/G] NM_018121,NM_001136123 FAM178A,FAM178A EXON Missense_N587S,Missense_N587S exm849838 10 102684656 [A/G] NM_018121,NM_001136123 FAM178A,FAM178A EXON Missense_N633S,Missense_N633S exm849854 10 102690797 [T/G] NM_018121,NM_001136123 FAM178A,FAM178A EXON Missense_V800F,Missense_V800F exm849864 10 102703850 [A/G] NM_018121,NM_001136123 FAM178A,FAM178A EXON Missense_T908A,Missense_T908A exm849872 10 102705243 [A/C] NM_018121,NM_001136123 FAM178A,FAM178A EXON Missense_I972L,Missense_I972L exm1668765 10 102707593 [A/G] NM_018121,NM_001136123 FAM178A,FAM178A EXON Missense_S1037G,Missense_S1037G exm849875 10 102707596 [A/C] NM_018121,NM_001136123 FAM178A,FAM178A EXON Missense_N1038H,Missense_N1038H exm849879 10 102709849 [A/G] NM_018121,NM_001136123 FAM178A,FAM178A EXON Missense_R1046H,Missense_R1046H exm849887 10 102721655 [A/G] NM_018121 FAM178A EXON Missense_V1170I exm849895 10 102732739 [T/C] NM_001203244,NM_017893 SEMA4G,SEMA4G EXON Missense_R24W,Missense_R24W exm849897 10 102732746 [T/C] NM_001203244,NM_017893 SEMA4G,SEMA4G EXON Missense_P26L,Missense_P26L exm849905 10 102733008 [A/G] NM_001203244,NM_017893 SEMA4G,SEMA4G EXON Missense_D83N,Missense_D83N exm849920 10 102738062 [A/C] NM_001203244,NM_017893,NM_176792 SEMA4G,SEMA4G,MRPL43 EXON Missense_A149D,Missense_A149D,Silent exm849924 10 102738121 [T/C] NM_001203244,NM_017893,NM_176792 SEMA4G,SEMA4G,MRPL43 EXON Missense_R169C,Missense_R169C,Silent exm849938 10 102738626 [A/G] NM_001203244,NM_017893,NM_176792 SEMA4G,SEMA4G,MRPL43 EXON Missense_V222I,Missense_V222I,Silent exm849942 10 102738707 [A/G] NM_001203244,NM_017893,NM_176792 SEMA4G,SEMA4G,MRPL43 EXON Missense_E249K,Missense_E249K,Silent exm849944 10 102738735 [A/G] NM_001203244,NM_017893,NM_176792 SEMA4G,SEMA4G,MRPL43 EXON Missense_R258H,Missense_R258H,Silent exm849949 10 102738860 [A/G] NM_001203244,NM_017893,NM_176792 SEMA4G,SEMA4G,MRPL43 EXON Missense_G272E,Missense_G272E,Silent exm2216553 10 102738987 [A/C] NM_001203244,NM_017893,NM_176792 SEMA4G,SEMA4G,MRPL43 EXON Missense_S314R,Missense_S314R,Silent exm849959 10 102739023 [A/G] NM_001203244,NM_017893,NM_176792 SEMA4G,SEMA4G,MRPL43 EXON Synonymous_T326T,Synonymous_T326T,Missense_V212A exm849962 10 102739116 [A/G] NM_001203244,NM_017893,NM_176792 SEMA4G,SEMA4G,MRPL43 EXON Silent,Silent,Missense_T181I exm1668788 10 102739612 [G/C] NM_001203244,NM_017893,NM_176792 SEMA4G,SEMA4G,MRPL43 EXON Missense_L331V,Missense_L331V,Silent exm849974 10 102739981 [A/G] NM_001203244,NM_017893,NM_176792 SEMA4G,SEMA4G,MRPL43 EXON Missense_V411I,Missense_V411I,Silent exm849975 10 102739993 [A/C] NM_001203244,NM_017893,NM_176792 SEMA4G,SEMA4G,MRPL43 EXON Missense_R415S,Missense_R415S,Silent exm1668790 10 102740021 [A/G] NM_001203244,NM_017893,NM_176792 SEMA4G,SEMA4G,MRPL43 EXON Missense_N424S,Missense_N424S,Silent exm849978 10 102740026 [T/C] NM_001203244,NM_017893,NM_176792 SEMA4G,SEMA4G,MRPL43 EXON Missense_R426C,Missense_R426C,Silent exm849979 10 102740060 [T/C] NM_001203244,NM_017893,NM_176792 SEMA4G,SEMA4G,MRPL43 EXON Missense_T437M,Missense_T437M,Silent exm849983 10 102740378 [A/G] NM_001203244,NM_017893,NM_176792 SEMA4G,SEMA4G,MRPL43 EXON Missense_M465I,Missense_M465I,Silent exm849995 10 102740612 [A/G] NM_001203244,NM_017893,NM_176792 SEMA4G,SEMA4G,MRPL43 EXON Missense_I501V,Missense_I501V,Silent exm849996 10 102740640 [A/G] NM_001203244,NM_017893,NM_176792 SEMA4G,SEMA4G,MRPL43 EXON Missense_R510H,Missense_R510H,Silent exm850010 10 102741283 [A/G] NM_001203244,NM_017893,NM_176792,NM_176794,NM_176793 SEMA4G,SEMA4G,MRPL43,MRPL43,MRPL43 EXON Silent,Silent,Silent,Nonsense_R225X,Synonymous_S182S exm850013 10 102743145 [T/C] NM_001203244,NM_017893,NM_176792,NM_176794,NM_176793 SEMA4G,SEMA4G,MRPL43,MRPL43,MRPL43 EXON Silent,Missense_R597W,Silent,Silent,Silent exm850021 10 102743217 [A/G] NM_001203244,NM_017893,NM_176792,NM_176794,NM_176793 SEMA4G,SEMA4G,MRPL43,MRPL43,MRPL43 EXON Silent,Missense_G621R,Silent,Silent,Silent exm850031 10 102743418 [A/G] NM_001203244,NM_017893,NM_176792,NM_176794,NM_176793 SEMA4G,SEMA4G,MRPL43,MRPL43,MRPL43 EXON Silent,Missense_A688T,Silent,Silent,Silent exm850032 10 102743424 [A/G] NM_001203244,NM_017893,NM_176792,NM_176794,NM_176793 SEMA4G,SEMA4G,MRPL43,MRPL43,MRPL43 EXON Silent,Missense_G690S,Silent,Silent,Silent exm850038 10 102743494 [A/G] NM_001203244,NM_017893,NM_176792,NM_176794,NM_176793 SEMA4G,SEMA4G,MRPL43,MRPL43,MRPL43 EXON Silent,Missense_R713H,Silent,Silent,Silent exm850043 10 102743518 [A/G] NM_001203244,NM_017893,NM_176792,NM_176794,NM_176793 SEMA4G,SEMA4G,MRPL43,MRPL43,MRPL43 EXON Silent,Missense_R721Q,Synonymous_P174P,Nonsense_R217X,Synonymous_P174P exm850044 10 102743533 [A/G] NM_001203244,NM_017893,NM_176792,NM_176794,NM_176793 SEMA4G,SEMA4G,MRPL43,MRPL43,MRPL43 EXON Silent,Missense_G726E,Synonymous_L169L,Missense_P212S,Synonymous_L169L exm850045 10 102743543 [A/G] NM_001203244,NM_017893,NM_176792,NM_176794,NM_176793 SEMA4G,SEMA4G,MRPL43,MRPL43,MRPL43 EXON Silent,Synonymous_A729A,Missense_P166L,Synonymous_T208T,Missense_P166L exm1668806 10 102743599 [A/G] NM_001203244,NM_017893,NM_176792,NM_176794,NM_176793 SEMA4G,SEMA4G,MRPL43,MRPL43,MRPL43 EXON Silent,Missense_D748G,Silent,Silent,Silent exm850063 10 102744331 [A/T] NM_001203244,NM_017893,NM_176792,NM_176794,NM_176793 SEMA4G,SEMA4G,MRPL43,MRPL43,MRPL43 EXON Missense_D597V,Silent,Silent,Silent,Silent exm850064 10 102744376 [T/C] NM_001203244,NM_017893,NM_176792,NM_176794,NM_176793 SEMA4G,SEMA4G,MRPL43,MRPL43,MRPL43 EXON Missense_M612T,Silent,Silent,Silent,Silent exm850065 10 102744589 [A/C] NM_001203244,NM_017893,NM_176792,NM_176794,NM_176793 SEMA4G,SEMA4G,MRPL43,MRPL43,MRPL43 EXON Missense_P683H,Silent,Silent,Silent,Silent exm850070 10 102746549 [T/C] NM_176792,NM_176794,NM_176793,NM_032112 MRPL43,MRPL43,MRPL43,MRPL43 EXON Missense_R141H,Missense_R141H,Missense_R141H,Missense_R141H exm850076 10 102746673 [C/G] NM_176792,NM_176794,NM_176793,NM_032112 MRPL43,MRPL43,MRPL43,MRPL43 EXON Missense_L100V,Missense_L100V,Missense_L100V,Missense_L100V exm850093 10 102748040 [A/G] NM_001163814,NM_001163813,NM_021830,NM_001163812 C10orf2,C10orf2,C10orf2,C10orf2 EXON Silent,Silent,Missense_R25G,Missense_R25G exm850100 10 102748205 [A/G] NM_001163814,NM_001163813,NM_021830,NM_001163812 C10orf2,C10orf2,C10orf2,C10orf2 EXON Silent,Silent,Missense_A80T,Missense_A80T exm850101 10 102748208 [G/C] NM_001163814,NM_001163813,NM_021830,NM_001163812 C10orf2,C10orf2,C10orf2,C10orf2 EXON Silent,Silent,Missense_L81V,Missense_L81V exm850118 10 102748656 [T/G] NM_001163814,NM_001163813,NM_021830,NM_001163812 C10orf2,C10orf2,C10orf2,C10orf2 EXON Silent,Silent,Missense_G230V,Missense_G230V exm850123 10 102748766 [G/C] NM_001163814,NM_001163813,NM_021830,NM_001163812 C10orf2,C10orf2,C10orf2,C10orf2 EXON Silent,Silent,Missense_L267V,Missense_L267V exm850132 10 102749069 [A/G] NM_001163814,NM_001163813,NM_021830,NM_001163812 C10orf2,C10orf2,C10orf2,C10orf2 EXON Silent,Silent,Missense_V368I,Missense_V368I exm850133 10 102749079 [A/G] NM_001163814,NM_001163813,NM_021830,NM_001163812 C10orf2,C10orf2,C10orf2,C10orf2 EXON Silent,Silent,Missense_R371Q,Missense_R371Q exm850141 10 102750193 [A/G] NM_001163814,NM_001163813,NM_021830,NM_001163812 C10orf2,C10orf2,C10orf2,C10orf2 EXON Synonymous_R41R,Synonymous_R41R,Synonymous_R495R,Synonymous_R495R exm850144 10 102750231 [A/G] NM_001163814,NM_001163813,NM_021830,NM_001163812 C10orf2,C10orf2,C10orf2,C10orf2 EXON Missense_Y54C,Missense_Y54C,Missense_Y508C,Missense_Y508C exm850150 10 102750630 [A/G] NM_001163814,NM_001163813,NM_021830,NM_001163812 C10orf2,C10orf2,C10orf2,C10orf2 EXON Missense_A79T,Missense_A79T,Missense_A533T,Missense_A533T exm850151 10 102750642 [T/C] NM_001163814,NM_001163813,NM_021830,NM_001163812 C10orf2,C10orf2,C10orf2,C10orf2 EXON Missense_Y83H,Missense_Y83H,Missense_Y537H,Missense_Y537H exm850155 10 102750730 [A/G] NM_001163814,NM_001163813,NM_021830,NM_001163812 C10orf2,C10orf2,C10orf2,C10orf2 EXON Missense_K112R,Missense_K112R,Missense_K566R,Missense_K566R exm850162 10 102753014 [A/G] NM_001163814,NM_001163813,NM_021830,NM_001163812 C10orf2,C10orf2,C10orf2,C10orf2 EXON Silent,Missense_R147Q,Missense_R601Q,Silent exm850168 10 102753227 [G/C] NM_001163814,NM_001163813,NM_021830,NM_001163812 C10orf2,C10orf2,C10orf2,C10orf2 EXON Silent,Missense_P218R,Missense_P672R,Silent exm850171 10 102753257 [A/G] NM_001163814,NM_001163813,NM_021830,NM_001163812 C10orf2,C10orf2,C10orf2,C10orf2 EXON Silent,Missense_R228H,Missense_R682H,Silent exm850177 10 102762413 [A/G] NM_032429 LZTS2 EXON Missense_G40R exm2248994 10 102762544 [T/C] NM_032429 LZTS2 EXON Synonymous_V83V exm850189 10 102762581 [T/C] NM_032429 LZTS2 EXON Missense_R96W exm850224 10 102763750 [T/C] NM_032429 LZTS2 EXON Missense_R299W exm850233 10 102763900 [A/G] NM_032429 LZTS2 EXON Missense_E349K exm850234 10 102763909 [A/G] NM_032429 LZTS2 EXON Missense_A352T exm850237 10 102765228 [A/G] NM_032429 LZTS2 EXON Missense_R361Q exm850250 10 102766288 [A/G] NM_032429 LZTS2 EXON Missense_K458R exm850281 10 102766692 [T/C] NM_032429 LZTS2 EXON Missense_R593W exm850284 10 102766750 [A/G] NM_032429 LZTS2 EXON Missense_R612H exm850285 10 102766795 [A/G] NM_032429 LZTS2 EXON Missense_R627H exm850289 10 102766857 [A/G] NM_032429 LZTS2 EXON Missense_A648T exm850291 10 102766875 [A/G] NM_032429 LZTS2 EXON Missense_E654K exm850292 10 102768234 [T/C] NM_001195263 PDZD7 EXON Missense_R1031H exm850297 10 102770082 [T/G] NM_001195263 PDZD7 EXON Missense_N855T exm850298 10 102770278 [T/C] NM_001195263 PDZD7 EXON Missense_K790E exm2216568 10 102772007 [T/G] NM_001195263 PDZD7 EXON Missense_H586Q exm850307 10 102775529 [T/C] NM_001195263 PDZD7 EXON Missense_G538E exm2216569 10 102776142 [A/C] NM_001195263 PDZD7 EXON Missense_L522R exm850311 10 102777931 [T/C] NM_001195263,NM_024895 PDZD7,PDZD7 EXON Missense_D483N,Missense_D483N exm850313 10 102777967 [A/G] NM_001195263,NM_024895 PDZD7,PDZD7 EXON Missense_F471L,Missense_F471L exm2216570 10 102778636 [T/C] NM_001195263,NM_024895 PDZD7,PDZD7 EXON Missense_A423T,Missense_A423T exm850324 10 102778767 [T/C] NM_001195263,NM_024895 PDZD7,PDZD7 EXON Missense_R379Q,Missense_R379Q exm850337 10 102778932 [T/C] NM_001195263,NM_024895 PDZD7,PDZD7 EXON Missense_S324N,Missense_S324N exm850364 10 102782087 [T/C] NM_001195263,NM_024895 PDZD7,PDZD7 EXON Missense_D200N,Missense_D200N exm850368 10 102782113 [T/A] NM_001195263,NM_024895 PDZD7,PDZD7 EXON Missense_V191E,Missense_V191E exm850379 10 102783365 [A/G] NM_001195263,NM_024895 PDZD7,PDZD7 EXON Missense_R124W,Missense_R124W exm850393 10 102783808 [T/C] NM_001195263,NM_024895 PDZD7,PDZD7 EXON Missense_D82N,Missense_D82N exm850398 10 102789826 [C/G] NM_001195263,NM_024895 PDZD7,PDZD7 EXON Missense_L51V,Missense_L51V exm1668894 10 102789831 [T/C] NM_001195263,NM_024895 PDZD7,PDZD7 EXON Missense_R49Q,Missense_R49Q exm850406 10 102789961 [T/C] NM_001195263,NM_024895 PDZD7,PDZD7 EXON Missense_A6T,Missense_A6T exm1668903 10 102795790 [A/G] NM_030971 SFXN3 EXON Nonsense_W125X exm850439 10 102795819 [A/T] NM_030971 SFXN3 EXON Missense_N135I exm850451 10 102796855 [A/G] NM_030971 SFXN3 EXON Missense_V210M exm850457 10 102796962 [T/C] NM_030971 SFXN3 Silent exm850467 10 102798401 [A/G] NM_030971 SFXN3 EXON Missense_R262H exm850475 10 102799264 [C/G] NM_030971 SFXN3 EXON Missense_N300K exm850477 10 102799310 [A/G] NM_030971 SFXN3 EXON Missense_V316I exm850485 10 102822575 [T/G] NM_030929 KAZALD1 EXON Missense_C76G exm850488 10 102822709 [C/G] NM_030929 KAZALD1 EXON Missense_E120D exm850490 10 102822755 [A/G] NM_030929 KAZALD1 EXON Missense_G136R exm850502 10 102824160 [A/C] NM_030929 KAZALD1 EXON Missense_D218E exm850504 10 102824292 [A/G] NM_030929 KAZALD1 EXON Missense_G236D exm850506 10 102824316 [A/G] NM_030929 KAZALD1 EXON Missense_R244H exm850510 10 102824349 [C/G] NM_030929 KAZALD1 EXON Missense_G255A exm850513 10 102824367 [A/G] NM_030929 KAZALD1 EXON Missense_Q261R exm850515 10 102824592 [A/G] NM_030929 KAZALD1 EXON Missense_N277S exm1668929 10 102824615 [T/C] NM_030929 KAZALD1 EXON Nonsense_R285X exm-IND10-102817747 10 102827758 [I/D] exm850521 10 102849350 [A/G] NM_001085398 TLX1NB EXON Missense_R105C exm850528 10 102849500 [A/G] NM_001085398 TLX1NB EXON Missense_P55S exm850535 10 102849625 [T/C] NM_001085398 TLX1NB EXON Missense_R13Q exm850542 10 102891390 [A/G] NM_005521,NM_001195517 TLX1,TLX1 EXON Missense_G31D,Missense_G31D exm850552 10 102891760 [T/G] NM_005521,NM_001195517 TLX1,TLX1 EXON Missense_L154F,Missense_L154F exm850560 10 102893974 [T/C] NM_005521,NM_001195517 TLX1,TLX1 EXON Missense_P204L,Missense_P204L exm850569 10 102896648 [T/C] NM_005521,NM_001195517 TLX1,TLX1 EXON Missense_S324L,Silent exm2248995 10 102917917 [A/G] exm850582 10 102987253 [A/G] NM_006562 LBX1 EXON Missense_A207V exm850602 10 102988500 [A/G] NM_006562 LBX1 EXON Missense_P25S exm850612 10 103239146 [T/C] NM_003939,NM_001256856,NM_033637 BTRC,BTRC,BTRC EXON Missense_L50F,Missense_L60F,Missense_L86F exm850613 10 103281421 [A/G] NM_003939,NM_001256856,NM_033637 BTRC,BTRC,BTRC EXON Missense_S81N,Missense_S91N,Missense_S117N exm1668963 10 103281619 [G/C] NM_003939,NM_001256856,NM_033637 BTRC,BTRC,BTRC EXON Missense_A147G,Missense_A157G,Missense_A183G exm850630 10 103292107 [A/G] NM_003939,NM_001256856,NM_033637 BTRC,BTRC,BTRC EXON Missense_R263Q,Missense_R273Q,Missense_R299Q exm850632 10 103292740 [A/G] NM_003939,NM_001256856,NM_033637 BTRC,BTRC,BTRC EXON Missense_R301Q,Missense_R311Q,Missense_R337Q exm850639 10 103294560 [A/G] NM_003939,NM_001256856,NM_033637 BTRC,BTRC,BTRC EXON Missense_T378A,Missense_T388A,Missense_T414A exm850643 10 103294635 [A/G] NM_003939,NM_001256856,NM_033637 BTRC,BTRC,BTRC EXON Missense_I403V,Missense_I413V,Missense_I439V exm850654 10 103298118 [A/G] NM_003939,NM_001256856,NM_033637 BTRC,BTRC,BTRC EXON Missense_R513Q,Missense_R523Q,Missense_R549Q exm1668984 10 103310574 [A/C] NM_003939,NM_001256856,NM_033637 BTRC,BTRC,BTRC EXON Missense_P556H,Missense_P566H,Missense_P592H exm850660 10 103310580 [A/G] NM_003939,NM_001256856,NM_033637 BTRC,BTRC,BTRC EXON Missense_R558H,Missense_R568H,Missense_R594H exm850663 10 103310600 [A/T] NM_003939,NM_001256856,NM_033637 BTRC,BTRC,BTRC EXON Missense_T565S,Missense_T575S,Missense_T601S exm850675 10 103339424 [T/G] NM_013274,NM_001174084,NM_001174085,NR_033406 POLL,POLL,POLL,POLL EXON Missense_Y505S,Missense_Y505S,Missense_Y413S,Silent exm850678 10 103339447 [T/G] NM_013274,NM_001174084,NM_001174085,NR_033406 POLL,POLL,POLL,POLL EXON Missense_S497R,Missense_S497R,Missense_S405R,Silent exm850680 10 103339467 [T/C] NM_013274,NM_001174084,NM_001174085,NR_033406 POLL,POLL,POLL,POLL EXON Missense_I491V,Missense_I491V,Missense_I399V,Silent exm850683 10 103339484 [T/C] NM_013274,NM_001174084,NM_001174085,NR_033406 POLL,POLL,POLL,POLL EXON Missense_R485Q,Missense_R485Q,Missense_R393Q,Silent exm850686 10 103339535 [T/C] NM_013274,NM_001174084,NM_001174085,NR_033406 POLL,POLL,POLL,POLL EXON Missense_G468D,Missense_G468D,Missense_G376D,Silent exm850692 10 103340056 [A/G] NM_013274,NM_001174084,NM_001174085,NR_033406 POLL,POLL,POLL,POLL EXON Missense_R438W,Missense_R438W,Missense_R346W,Silent exm850705 10 103342588 [T/C] NM_013274,NM_001174084,NM_001174085,NR_033406 POLL,POLL,POLL,POLL EXON Missense_G376S,Missense_G376S,Missense_G284S,Silent exm850709 10 103342648 [T/C] NM_013274,NM_001174084,NM_001174085,NR_033406 POLL,POLL,POLL,POLL EXON Missense_G356S,Missense_G356S,Missense_G264S,Silent exm850712 10 103343314 [A/G] NM_013274,NM_001174084,NM_001174085,NR_033406 POLL,POLL,POLL,POLL EXON Missense_S339F,Missense_S339F,Missense_S247F,Silent exm850717 10 103343423 [A/G] NM_013274,NM_001174084,NM_001174085,NR_033406 POLL,POLL,POLL,POLL EXON Missense_P303S,Missense_P303S,Missense_P211S,Silent exm850727 10 103344498 [T/C] NM_013274,NM_001174084,NM_001174085,NR_033406 POLL,POLL,POLL,POLL EXON Missense_N251S,Missense_N251S,Silent,Silent exm850751 10 103345860 [A/G] NM_013274,NM_001174084,NM_001174085,NR_033406 POLL,POLL,POLL,POLL EXON Missense_R57W,Missense_R57W,Missense_R57W,Silent exm850752 10 103345895 [T/C] NM_013274,NM_001174084,NM_001174085,NR_033406 POLL,POLL,POLL,POLL EXON Missense_R45Q,Missense_R45Q,Missense_R45Q,Silent exm2274434 10 103345896 [A/G] NM_013274,NM_001174084,NM_001174085,NR_033406 POLL,POLL,POLL,POLL EXON Missense_R45W,Missense_R45W,Missense_R45W,Silent exm850770 10 103360560 [C/G] NM_015448 DPCD EXON Missense_P71A exm850792 10 103368654 [T/C] NM_015448 DPCD EXON Missense_L156S exm1669026 10 103369205 [A/G] NM_015448 DPCD EXON Missense_D197N exm2276927 10 103369228 [A/G] NM_015448 DPCD EXON Synonymous_X204X exm1669027 10 103369228 [T/G] NM_015448 DPCD EXON Missense_X204Y exm850805 10 103371095 [T/C] NM_022039 FBXW4 EXON Missense_A398T exm850813 10 103371385 [A/G] NM_022039 FBXW4 EXON Synonymous_H373H exm850814 10 103371395 [T/G] NM_022039 FBXW4 EXON Missense_A370D exm850816 10 103371420 [A/G] NM_022039 FBXW4 EXON Missense_R362W exm850822 10 103372098 [T/C] NM_022039 FBXW4 EXON Missense_V325I exm850837 10 103432744 [T/A] NM_022039 FBXW4 EXON Missense_H201Q exm850843 10 103433266 [A/G] NM_022039 FBXW4 EXON Missense_S174L exm850844 10 103433291 [T/C] NM_022039 FBXW4 EXON Missense_V166I exm850852 10 103436164 [A/G] NM_022039 FBXW4 EXON Missense_V97A exm850885 10 103530352 [T/C] NM_033164,NM_033163,NM_033165,NM_001206389,NM_006119 FGF8,FGF8,FGF8,FGF8,FGF8 EXON Missense_V146I,Missense_V157I,Missense_V117I,Missense_V53I,Missense_V128I exm850899 10 103534959 [A/C] NM_033164,NM_033163,NM_033165,NM_001206389,NM_006119 FGF8,FGF8,FGF8,FGF8,FGF8 EXON Missense_R28S,Missense_R28S,Silent,Silent,Silent exm850900 10 103534966 [A/G] NM_033164,NM_033163,NM_033165,NM_001206389,NM_006119 FGF8,FGF8,FGF8,FGF8,FGF8 EXON Missense_P26L,Missense_P26L,Silent,Silent,Silent exm850911 10 103541595 [T/A] NM_006993 NPM3 EXON Missense_D145E exm850925 10 103543093 [A/G] NM_006993 NPM3 EXON Missense_R19W exm850935 10 103543141 [T/C] NM_006993 NPM3 EXON Missense_A3T exm850948 10 103552631 [T/C] NM_001142434,NM_012215 MGEA5,MGEA5 EXON Missense_V661I,Missense_V714I exm850961 10 103558607 [A/C] NM_001142434,NM_012215 MGEA5,MGEA5 EXON Missense_S548A,Missense_S601A exm850964 10 103558731 [A/C] NM_001142434,NM_012215 MGEA5,MGEA5 EXON Missense_Q506H,Missense_Q559H exm850966 10 103558745 [C/G] NM_001142434,NM_012215 MGEA5,MGEA5 EXON Missense_L502V,Missense_L555V exm850968 10 103558759 [A/G] NM_001142434,NM_012215 MGEA5,MGEA5 EXON Missense_A497V,Missense_A550V exm1669087 10 103558849 [T/C] NM_001142434,NM_012215 MGEA5,MGEA5 EXON Missense_C467Y,Missense_C520Y exm850970 10 103558868 [A/T] NM_001142434,NM_012215 MGEA5,MGEA5 EXON Missense_M461L,Missense_M514L exm850978 10 103559117 [T/C] NM_001142434,NM_012215 MGEA5,MGEA5 EXON Missense_T378A,Missense_T431A exm850979 10 103559126 [T/C] NM_001142434,NM_012215 MGEA5,MGEA5 EXON Missense_V375I,Missense_V428I exm851026 10 103587663 [T/C] NR_045118,NM_173193,NM_173194,NM_173195,NM_173191,NM_014591,NM_173192,NM_173197 LOC100289509,KCNIP2,KCNIP2,KCNIP2,KCNIP2,KCNIP2,KCNIP2,KCNIP2 EXON Silent,Missense_V186M,Missense_V184M,Missense_V179M,Missense_V229M,Missense_V244M,Missense_V211M,Missense_V143M exm851028 10 103587686 [T/C] NR_045118,NM_173193,NM_173194,NM_173195,NM_173191,NM_014591,NM_173192,NM_173197 LOC100289509,KCNIP2,KCNIP2,KCNIP2,KCNIP2,KCNIP2,KCNIP2,KCNIP2 EXON Silent,Missense_R178Q,Missense_R176Q,Missense_R171Q,Missense_R221Q,Missense_R236Q,Missense_R203Q,Missense_R135Q exm851035 10 103587976 [C/G] NR_045118,NM_173193,NM_173194,NM_173195,NM_173191,NM_014591,NM_173192,NM_173197 LOC100289509,KCNIP2,KCNIP2,KCNIP2,KCNIP2,KCNIP2,KCNIP2,KCNIP2 EXON Silent,Missense_V134L,Missense_V132L,Missense_V127L,Missense_V177L,Missense_V192L,Missense_V159L,Silent exm2248997 10 103588158 [T/C] NR_045118,NM_173193,NM_173194,NM_173195,NM_173191,NM_014591,NM_173192,NM_173197 LOC100289509,KCNIP2,KCNIP2,KCNIP2,KCNIP2,KCNIP2,KCNIP2,KCNIP2 EXON Silent,Synonymous_S116S,Synonymous_S114S,Synonymous_S109S,Synonymous_S159S,Synonymous_S174S,Synonymous_S141S,Synonymous_S109S exm851041 10 103588387 [A/C] NR_045118,NM_173193,NM_173194,NM_173195,NM_173191,NM_014591,NM_173192,NM_173197 LOC100289509,KCNIP2,KCNIP2,KCNIP2,KCNIP2,KCNIP2,KCNIP2,KCNIP2 EXON Silent,Nonsense_G96X,Nonsense_G94X,Nonsense_G89X,Nonsense_G139X,Nonsense_G154X,Nonsense_G121X,Nonsense_G89X exm851043 10 103588465 [A/G] NR_045118,NM_173193,NM_173194,NM_173195,NM_173191,NM_014591,NM_173192,NM_173197 LOC100289509,KCNIP2,KCNIP2,KCNIP2,KCNIP2,KCNIP2,KCNIP2,KCNIP2 EXON Silent,Missense_L70F,Silent,Silent,Silent,Silent,Silent,Silent exm851044 10 103588870 [A/G] NM_173193,NM_173194,NM_173195,NM_173191,NM_014591,NM_173192,NM_173197 KCNIP2,KCNIP2,KCNIP2,KCNIP2,KCNIP2,KCNIP2,KCNIP2 EXON Missense_R54C,Missense_R59C,Missense_R54C,Missense_R104C,Missense_R119C,Missense_R86C,Missense_R54C exm1669121 10 103589693 [C/G] NM_173193,NM_173194,NM_173195,NM_173191,NM_014591,NM_173192,NM_173197 KCNIP2,KCNIP2,KCNIP2,KCNIP2,KCNIP2,KCNIP2,KCNIP2 EXON Silent,Silent,Silent,Silent,Missense_R59P,Silent,Silent exm2267125 10 103606736 [A/G] NM_024541 C10orf76 EXON Silent exm851064 10 103607352 [T/C] NM_024541 C10orf76 EXON Missense_R668Q exm2271342 10 103662789 [T/C] NM_024541 C10orf76 Silent exm851078 10 103734984 [A/G] NM_024541 C10orf76 EXON Missense_R494W exm851098 10 103766311 [A/G] NM_024541 C10orf76 EXON Missense_P345L exm851101 10 103769139 [A/C] NM_024541 C10orf76 EXON Missense_L316V exm851110 10 103784913 [A/G] NM_024541 C10orf76 EXON Synonymous_T169T exm851139 10 103825700 [T/G] NM_024747 HPS6 EXON Missense_A157S exm851145 10 103825772 [A/G] NM_024747 HPS6 EXON Missense_T181A exm851152 10 103825926 [A/G] NM_024747 HPS6 EXON Missense_R232Q exm851153 10 103825929 [T/G] NM_024747 HPS6 EXON Missense_L233R exm851169 10 103826270 [A/G] NM_024747 HPS6 EXON Missense_V347I exm851170 10 103826291 [T/C] NM_024747 HPS6 EXON Missense_H354Y exm851184 10 103826609 [T/C] NM_024747 HPS6 EXON Missense_R460W exm851185 10 103826619 [A/G] NM_024747 HPS6 EXON Missense_R463Q exm851213 10 103827557 [T/C] NM_024747 HPS6 EXON Missense_X776R exm851215 10 103867887 [T/C] NM_003893,NM_001113407 LDB1,LDB1 EXON Missense_S364N,Missense_S400N exm851217 10 103867930 [T/C] NM_003893,NM_001113407 LDB1,LDB1 EXON Missense_A350T,Missense_A386T exm851253 10 103870718 [T/C] NM_003893,NM_001113407 LDB1,LDB1 EXON Missense_N51S,Missense_N87S exm2274435 10 103870881 [T/C] NM_003893,NM_001113407 LDB1,LDB1 EXON Missense_N29S,Missense_N65S exm851290 10 103899047 [T/C] NM_015062 PPRC1 EXON Missense_A261V exm851294 10 103899124 [C/G] NM_015062 PPRC1 EXON Missense_A287P exm851315 10 103899659 [A/G] NM_015062 PPRC1 EXON Missense_K465R exm851316 10 103899676 [T/A] NM_015062 PPRC1 EXON Missense_C471S exm851318 10 103899716 [A/G] NM_015062 PPRC1 EXON Missense_R484H exm851324 10 103899871 [A/G] NM_015062 PPRC1 EXON Missense_S536G exm851336 10 103900090 [T/C] NM_015062 PPRC1 EXON Missense_P609S exm851364 10 103900729 [A/G] NM_015062 PPRC1 EXON Missense_V822I exm851365 10 103900766 [G/C] NM_015062 PPRC1 EXON Missense_P834R exm851366 10 103900768 [A/G] NM_015062 PPRC1 EXON Missense_V835I exm851370 10 103900889 [T/C] NM_015062 PPRC1 EXON Missense_M875T exm851371 10 103900915 [T/G] NM_015062 PPRC1 EXON Missense_G884C exm851373 10 103900991 [T/C] NM_015062 PPRC1 EXON Missense_V909A exm851389 10 103901339 [T/C] NM_015062 PPRC1 EXON Missense_P1025L exm851390 10 103901357 [T/C] NM_015062 PPRC1 EXON Missense_P1031L exm851392 10 103901365 [A/C] NM_015062 PPRC1 EXON Missense_M1034L exm851393 10 103901371 [C/G] NM_015062 PPRC1 EXON Missense_P1036A exm851410 10 103901713 [T/C] NM_015062 PPRC1 EXON Missense_R1150C exm851413 10 103904018 [T/C] NM_015062 PPRC1 EXON Missense_C1188R exm851425 10 103906431 [A/C] NM_015062 PPRC1 EXON Missense_L1228I exm851426 10 103906479 [C/G] NM_015062 PPRC1 EXON Missense_A1244P exm851430 10 103906612 [A/G] NM_015062 PPRC1 EXON Missense_R1288Q exm851433 10 103906734 [A/G] NM_015062 PPRC1 EXON Missense_I1329V exm851435 10 103906768 [G/C] NM_015062 PPRC1 EXON Missense_A1340G exm2216593 10 103906807 [T/C] NM_015062 PPRC1 EXON Missense_P1353L exm851445 10 103907055 [T/C] NM_015062 PPRC1 EXON Missense_R1436W exm851466 10 103908404 [A/C] NM_015062 PPRC1 EXON Missense_H1524N exm851493 10 103916792 [A/G] NM_004741 NOLC1 EXON Missense_N46S exm851497 10 103917011 [A/G] NM_004741 NOLC1 EXON Missense_K81R exm851505 10 103917282 [T/G] NM_004741 NOLC1 EXON Missense_D137E exm851512 10 103917969 [T/C] NM_004741 NOLC1 EXON Missense_P202L exm2248998 10 103920255 [T/A] NM_004741 NOLC1 EXON Synonymous_G382G exm851540 10 103920344 [T/G] NM_004741 NOLC1 EXON Missense_G412V exm851548 10 103920475 [T/C] NM_004741 NOLC1 EXON Missense_S456P exm851553 10 103920617 [T/C] NM_004741 NOLC1 EXON Missense_P503L exm851555 10 103920679 [A/G] NM_004741 NOLC1 EXON Missense_D524N exm851556 10 103920694 [A/G] NM_004741 NOLC1 EXON Missense_E529K exm851563 10 103920838 [A/G] NM_004741 NOLC1 EXON Missense_V577I exm851567 10 103921327 [T/C] NM_004741 NOLC1 EXON Missense_R586W exm851578 10 103921974 [A/G] NM_004741 NOLC1 EXON Missense_R683Q exm2248999 10 103922896 [T/G] NM_004741 NOLC1 EXON Silent exm851582 10 103986319 [T/C] NM_152310 ELOVL3 EXON Missense_M5T exm851583 10 103986325 [T/G] NM_152310 ELOVL3 EXON Missense_V7G exm851598 10 103988265 [A/G] NM_152310 ELOVL3 EXON Missense_D109N exm851599 10 103988298 [T/A] NM_152310 ELOVL3 EXON Missense_F120I exm851600 10 103988605 [T/C] NM_152310 ELOVL3 EXON Missense_R137C exm851601 10 103988606 [A/G] NM_152310 ELOVL3 EXON Missense_R137H exm851602 10 103988612 [A/G] NM_152310 ELOVL3 EXON Missense_R139Q exm851672 10 104117875 [T/C] NM_004193,NM_001199379,NM_001199378 GBF1,GBF1,GBF1 EXON Missense_M240T,Missense_M240T,Missense_M240T exm851675 10 104118278 [T/C] NM_004193,NM_001199379,NM_001199378 GBF1,GBF1,GBF1 EXON Missense_I268T,Missense_I268T,Missense_I268T exm851688 10 104119139 [T/C] NM_004193,NM_001199379,NM_001199378 GBF1,GBF1,GBF1 EXON Missense_M375T,Missense_M375T,Missense_M376T exm851700 10 104120139 [A/G] NM_004193,NM_001199379,NM_001199378 GBF1,GBF1,GBF1 EXON Missense_R459H,Missense_R459H,Missense_R460H exm851704 10 104121498 [G/C] NM_004193,NM_001199379,NM_001199378 GBF1,GBF1,GBF1 EXON Missense_E504D,Missense_E504D,Missense_E505D exm851729 10 104125334 [A/G] NM_004193,NM_001199379,NM_001199378 GBF1,GBF1,GBF1 EXON Missense_D762N,Missense_D762N,Missense_D763N exm851733 10 104126256 [A/G] NM_004193,NM_001199379,NM_001199378 GBF1,GBF1,GBF1 EXON Missense_R808H,Missense_R808H,Missense_R809H exm851765 10 104129532 [A/G] NM_004193,NM_001199379,NM_001199378 GBF1,GBF1,GBF1 EXON Missense_R1071Q,Missense_R1071Q,Missense_R1072Q exm851769 10 104129716 [A/G] NM_004193,NM_001199379,NM_001199378 GBF1,GBF1,GBF1 EXON Missense_K1104R,Missense_K1104R,Missense_K1105R exm851782 10 104130546 [A/G] NM_004193,NM_001199379,NM_001199378 GBF1,GBF1,GBF1 EXON Missense_V1196M,Missense_V1196M,Missense_V1197M exm851783 10 104130561 [T/G] NM_004193,NM_001199379,NM_001199378 GBF1,GBF1,GBF1 EXON Missense_V1201L,Missense_V1201L,Missense_V1202L exm1669394 10 104130573 [T/C] NM_004193,NM_001199379,NM_001199378 GBF1,GBF1,GBF1 EXON Missense_R1205C,Missense_R1205C,Missense_R1206C exm851789 10 104135216 [A/G] NM_004193,NM_001199379,NM_001199378 GBF1,GBF1,GBF1 EXON Missense_N1253S,Missense_N1253S,Missense_N1254S exm2249000 10 104136072 [T/C] NM_004193,NM_001199379,NM_001199378 GBF1,GBF1,GBF1 EXON Synonymous_D1309D,Synonymous_D1309D,Synonymous_D1310D exm851799 10 104136187 [A/G] NM_004193,NM_001199379,NM_001199378 GBF1,GBF1,GBF1 EXON Missense_V1348M,Missense_V1348M,Missense_V1349M exm851809 10 104136425 [A/G] NM_004193,NM_001199379,NM_001199378 GBF1,GBF1,GBF1 EXON Missense_D1385N,Missense_D1385N,Missense_D1386N exm851815 10 104136712 [T/C] NM_004193,NM_001199379,NM_001199378 GBF1,GBF1,GBF1 EXON Missense_R1436C,Missense_R1436C,Missense_R1437C exm851825 10 104136897 [T/C] NM_004193,NM_001199379,NM_001199378 GBF1,GBF1,GBF1 EXON Synonymous_D1497D,Silent,Silent exm851847 10 104140350 [A/G] NM_004193,NM_001199379,NM_001199378 GBF1,GBF1,GBF1 EXON Missense_G1693S,Missense_G1689S,Missense_G1690S exm851849 10 104140387 [T/C] NM_004193,NM_001199379,NM_001199378 GBF1,GBF1,GBF1 EXON Missense_I1705T,Missense_I1701T,Missense_I1702T exm851875 10 104156028 [A/G] NR_048560,NM_001077494,NM_002502,NM_001261403 NFKB2,NFKB2,NFKB2,NFKB2 EXON Silent,Missense_E14K,Missense_E14K,Missense_E14K exm851898 10 104159215 [T/C] NR_048560,NM_001077494,NM_002502,NM_001261403 NFKB2,NFKB2,NFKB2,NFKB2 EXON Silent,Missense_P430S,Missense_P430S,Missense_P430S exm851915 10 104160186 [A/G] NR_048560,NM_001077494,NM_002502,NM_001261403 NFKB2,NFKB2,NFKB2,NFKB2 EXON Silent,Missense_R579H,Missense_R579H,Missense_R579H exm851919 10 104160453 [G/C] NR_048560,NM_001077494,NM_002502,NM_001261403 NFKB2,NFKB2,NFKB2,NFKB2 EXON Silent,Missense_E614Q,Missense_E614Q,Missense_E614Q exm851924 10 104160707 [T/C] NR_048560,NM_001077494,NM_002502,NM_001261403 NFKB2,NFKB2,NFKB2,NFKB2 EXON Silent,Missense_R658W,Missense_R658W,Missense_R658W exm851927 10 104160728 [T/A] NR_048560,NM_001077494,NM_002502,NM_001261403 NFKB2,NFKB2,NFKB2,NFKB2 EXON Silent,Missense_T665S,Missense_T665S,Missense_T665S exm851935 10 104161032 [A/G] NR_048560,NM_001077494,NM_002502,NM_001261403 NFKB2,NFKB2,NFKB2,NFKB2 EXON Silent,Missense_D723N,Missense_D723N,Missense_D723N exm851939 10 104161231 [T/C] NR_048560,NM_001077494,NM_002502,NM_001261403 NFKB2,NFKB2,NFKB2,NFKB2 EXON Silent,Missense_A750V,Missense_A750V,Missense_A750V exm851961 10 104162970 [T/C] NM_001270966,NR_073110,NM_001270965,NM_002779 PSD,PSD,PSD,PSD EXON Missense_R642Q,Silent,Missense_R1021Q,Missense_R1021Q exm851971 10 104163153 [T/C] NM_001270966,NR_073110,NM_001270965,NM_002779 PSD,PSD,PSD,PSD EXON Missense_R581Q,Silent,Missense_R960Q,Missense_R960Q exm851972 10 104163154 [A/G] NM_001270966,NR_073110,NM_001270965,NM_002779 PSD,PSD,PSD,PSD EXON Missense_R581W,Silent,Missense_R960W,Missense_R960W exm851976 10 104163627 [T/C] NM_001270966,NR_073110,NM_001270965,NM_002779 PSD,PSD,PSD,PSD EXON Missense_R560Q,Silent,Missense_R939Q,Missense_R939Q exm851980 10 104163679 [A/G] NM_001270966,NR_073110,NM_001270965,NM_002779 PSD,PSD,PSD,PSD EXON Missense_R543W,Silent,Missense_R922W,Missense_R922W exm851982 10 104163729 [T/C] NM_001270966,NR_073110,NM_001270965,NM_002779 PSD,PSD,PSD,PSD EXON Missense_R526Q,Silent,Missense_R905Q,Missense_R905Q exm851984 10 104164354 [T/G] NM_001270966,NR_073110,NM_001270965,NM_002779 PSD,PSD,PSD,PSD EXON Missense_T517P,Silent,Missense_T896P,Missense_T896P exm851993 10 104164697 [T/C] NM_001270966,NR_073110,NM_001270965,NM_002779 PSD,PSD,PSD,PSD EXON Missense_Y459C,Silent,Missense_Y838C,Missense_Y838C exm852026 10 104171984 [A/G] NM_001270966,NM_001270965,NM_002779 PSD,PSD,PSD EXON Synonymous_N204N,Synonymous_N583N,Synonymous_N583N exm852029 10 104173533 [A/G] NM_001270966,NM_001270965,NM_002779 PSD,PSD,PSD EXON Missense_L137F,Missense_L516F,Missense_L516F exm2249002 10 104173549 [C/G] NM_001270966,NM_001270965,NM_002779 PSD,PSD,PSD EXON Synonymous_G131G,Synonymous_G510G,Synonymous_G510G exm852036 10 104173622 [T/G] NM_001270966,NM_001270965,NM_002779 PSD,PSD,PSD EXON Missense_E107A,Missense_E486A,Missense_E486A exm852037 10 104173673 [A/C] NM_001270966,NM_001270965,NM_002779 PSD,PSD,PSD EXON Missense_G90V,Missense_G469V,Missense_G469V exm852042 10 104173724 [T/C] NM_001270966,NM_001270965,NM_002779 PSD,PSD,PSD EXON Missense_R73Q,Missense_R452Q,Missense_R452Q exm852053 10 104173944 [A/G] NM_001270966,NM_001270965,NM_002779 PSD,PSD,PSD EXON Silent,Missense_R379W,Missense_R379W exm852073 10 104174986 [T/C] NM_001270966,NM_001270965,NM_002779 PSD,PSD,PSD EXON Silent,Missense_G253D,Missense_G253D exm852089 10 104176384 [T/G] NM_001270966,NM_001270965,NM_002779 PSD,PSD,PSD EXON Silent,Missense_T138P,Missense_T138P exm852095 10 104176467 [C/G] NM_001270966,NM_001270965,NM_002779 PSD,PSD,PSD EXON Silent,Missense_S110T,Missense_S110T exm852096 10 104176471 [T/C] NM_001270966,NM_001270965,NM_002779 PSD,PSD,PSD EXON Silent,Missense_A109T,Missense_A109T exm852103 10 104176653 [T/C] NM_001270966,NM_001270965,NM_002779 PSD,PSD,PSD EXON Silent,Missense_R48Q,Missense_R48Q exm852148 10 104183604 [A/G] NM_024040 CUEDC2 EXON Missense_R203C exm852154 10 104184043 [A/G] NM_024040 CUEDC2 EXON Missense_A130V exm852155 10 104184052 [A/G] NM_024040 CUEDC2 EXON Missense_S127L exm852190 10 104210861 [A/C] NR_038937,NR_038938,NM_024886 LOC100505761,LOC100505761,C10orf95 EXON Silent,Silent,Missense_G43W exm2249003 10 104210889 [T/G] NR_038937,NR_038938,NM_024886 LOC100505761,LOC100505761,C10orf95 EXON Silent,Silent,Synonymous_G33G exm2259513 10 104217503 [T/G] exm852210 10 104229778 [A/T] NM_024789 TMEM180 EXON Missense_N66I exm2216612 10 104230745 [A/T] NM_024789 TMEM180 EXON Missense_F192Y exm2216613 10 104230748 [A/G] NM_024789 TMEM180 EXON Missense_R193H exm852240 10 104230820 [A/G] NM_024789 TMEM180 EXON Missense_R217Q exm852248 10 104231089 [A/G] NM_024789 TMEM180 EXON Missense_R255Q exm852249 10 104231098 [A/G] NM_024789 TMEM180 EXON Missense_R258Q exm1669577 10 104231133 [A/G] NM_024789 TMEM180 EXON Missense_V270M exm852267 10 104233495 [T/C] NM_024789 TMEM180 EXON Missense_A365V exm852272 10 104233661 [T/C] NM_024789 TMEM180 EXON Missense_R395C exm852289 10 104235625 [A/C] NM_024789 TMEM180 EXON Missense_L480M exm852294 10 104235679 [A/G] NM_024789 TMEM180 EXON Missense_M498V exm852296 10 104235691 [T/C] NM_024789 TMEM180 EXON Nonsense_Q502X exm2249004 10 104248877 [A/G] NM_005736 ACTR1A EXON Synonymous_H44H exm2249005 10 104263921 [A/G] NM_001178133,NM_016169 SUFU,SUFU EXON Synonymous_L4L,Synonymous_L4L exm-rs2281880 10 104269217 [A/G] NM_001178133,NM_016169 SUFU,SUFU Silent,Silent exm852369 10 104309821 [A/G] NM_001178133,NM_016169 SUFU,SUFU EXON Missense_A138T,Missense_A138T exm852384 10 104356979 [A/G] NM_001178133,NM_016169 SUFU,SUFU EXON Missense_R280Q,Missense_R280Q exm852387 10 104357020 [A/G] NM_001178133,NM_016169 SUFU,SUFU EXON Missense_G294S,Missense_G294S exm852389 10 104359204 [T/C] NM_001178133,NM_016169 SUFU,SUFU EXON Missense_R309W,Missense_R309W exm852393 10 104359271 [A/G] NM_001178133,NM_016169 SUFU,SUFU EXON Missense_R331Q,Missense_R331Q exm852396 10 104359297 [T/G] NM_001178133,NM_016169 SUFU,SUFU EXON Missense_A340S,Missense_A340S exm852399 10 104375030 [A/G] NM_001178133,NM_016169 SUFU,SUFU EXON Missense_R343H,Missense_R343H exm852401 10 104375060 [T/C] NM_001178133,NM_016169 SUFU,SUFU EXON Missense_T353M,Missense_T353M exm852425 10 104404416 [C/G] NM_030912 TRIM8 EXON Missense_I14M exm1669644 10 104414984 [T/C] NM_030912 TRIM8 EXON Missense_L272F exm852461 10 104416647 [A/G] NM_030912 TRIM8 EXON Missense_G398S exm2273468 10 104436641 [T/C] NM_004311 ARL3 EXON Silent exm2274436 10 104445670 [A/G] NM_004311 ARL3 EXON Missense_P135L exm852506 10 104486485 [T/C] NM_178858 SFXN2 EXON Missense_T31M exm852508 10 104486493 [T/C] NM_178858 SFXN2 EXON Missense_R34C exm852509 10 104486496 [A/G] NM_178858 SFXN2 EXON Missense_T35A exm852512 10 104486538 [A/C] NM_178858 SFXN2 EXON Missense_M49L exm852517 10 104486823 [A/G] NM_178858 SFXN2 EXON Missense_D81N exm852518 10 104486826 [A/G] NM_178858 SFXN2 EXON Missense_T82A exm852528 10 104488199 [T/C] NM_178858 SFXN2 EXON Missense_A115V exm852536 10 104488288 [T/C] NM_178858 SFXN2 Silent exm852549 10 104489532 [T/C] NM_178858 SFXN2 EXON Missense_A187V exm852550 10 104489559 [A/G] NM_178858 SFXN2 EXON Missense_R196Q exm852555 10 104491921 [A/G] NM_178858 SFXN2 EXON Missense_I223V exm852562 10 104493338 [T/C] NM_178858 SFXN2 EXON Nonsense_Q267X exm852568 10 104497446 [T/C] NM_178858 SFXN2 EXON Missense_P299L exm852571 10 104497484 [A/C] NM_178858 SFXN2 EXON Missense_L312I exm852572 10 104497486 [T/G] NM_178858 SFXN2 EXON Synonymous_L312L exm2249007 10 104497486 [T/G] NM_178858 SFXN2 EXON Synonymous_L312L exm2271344 10 104500659 [T/C] exm852584 10 104536151 [A/C] NM_001083913,NM_017787 WBP1L,WBP1L EXON Silent,Missense_P2T exm852591 10 104557789 [A/G] NM_001083913,NM_017787 WBP1L,WBP1L EXON Missense_I44V,Missense_I23V exm852598 10 104569773 [A/G] NM_001083913,NM_017787 WBP1L,WBP1L EXON Missense_R106Q,Missense_R85Q exm852612 10 104572682 [T/C] NM_001083913,NM_017787 WBP1L,WBP1L EXON Missense_P229L,Missense_P208L exm852622 10 104572927 [T/C] NM_001083913,NM_017787 WBP1L,WBP1L EXON Missense_R311W,Missense_R290W exm852626 10 104572963 [T/C] NM_001083913,NM_017787 WBP1L,WBP1L EXON Missense_S323P,Missense_S302P exm852633 10 104573017 [T/G] NM_001083913,NM_017787 WBP1L,WBP1L EXON Missense_A341S,Missense_A320S exm852644 10 104591264 [A/C] NM_000102 CYP17A1 Silent exm-rs17115100 10 104591393 [T/G] NM_000102 CYP17A1 Silent exm2216627 10 104592278 [T/C] NM_000102 CYP17A1 EXON Missense_V377I exm852653 10 104592419 [T/C] NM_000102 CYP17A1 EXON Missense_E330K exm-rs1004467 10 104594507 [A/G] NM_000102 CYP17A1 Silent exm852673 10 104595133 [A/G] NM_000102 CYP17A1 EXON Missense_A105V exm852682 10 104597057 [T/C] NM_000102 CYP17A1 EXON Missense_R21K exm-rs7096169 10 104618695 [A/G] NR_037644,NM_001136200,NM_144591 C10orf32-AS3MT,C10orf32,C10orf32 Silent,Silent,Silent exm852706 10 104622644 [T/C] NR_037644,NM_001136200,NM_144591 C10orf32-AS3MT,C10orf32,C10orf32 EXON Silent,Missense_S95L,Missense_S95L exm852714 10 104629603 [A/G] NR_037644,NM_020682 C10orf32-AS3MT,AS3MT Silent,Silent exm852726 10 104632881 [T/C] NR_037644,NM_020682 C10orf32-AS3MT,AS3MT EXON Silent,Synonymous_T163T exm852729 10 104634407 [T/C] NR_037644,NM_020682 C10orf32-AS3MT,AS3MT EXON Silent,Synonymous_I219I exm852738 10 104638266 [T/C] NR_037644,NM_020682 C10orf32-AS3MT,AS3MT EXON Silent,Missense_S294L exm852739 10 104638267 [A/G] NR_037644,NM_020682 C10orf32-AS3MT,AS3MT EXON Silent,Synonymous_S294S exm852740 10 104638615 [A/G] NR_037644,NM_020682 C10orf32-AS3MT,AS3MT EXON Silent,Missense_V298I exm852742 10 104638723 [T/C] NR_037644,NM_020682 C10orf32-AS3MT,AS3MT EXON Silent,Missense_C334R exm852746 10 104650305 [A/G] NR_037644,NM_020682 C10orf32-AS3MT,AS3MT EXON Silent,Missense_V344M exm-rs11191447 10 104652323 [T/C] NR_037644,NM_020682 C10orf32-AS3MT,AS3MT Silent,Silent exm-rs11191454 10 104660004 [A/G] NR_037644,NM_020682 C10orf32-AS3MT,AS3MT Silent,Silent exm852755 10 104660417 [T/A] NR_037644,NM_020682 C10orf32-AS3MT,AS3MT EXON Silent,Missense_M410L exm852766 10 104678542 [A/G] NM_199077,NM_199076,NM_017649 CNNM2,CNNM2,CNNM2 EXON Missense_K102R,Missense_K102R,Missense_K102R exm852775 10 104678841 [A/G] NM_199077,NM_199076,NM_017649 CNNM2,CNNM2,CNNM2 EXON Missense_A202T,Missense_A202T,Missense_A202T exm-rs12413409 10 104719096 [A/G] NM_199076,NM_017649 CNNM2,CNNM2 Silent,Silent exm-rs7914558 10 104775908 [A/G] NM_199076,NM_017649 CNNM2,CNNM2 Silent,Silent exm852823 10 104835945 [A/G] NM_199076,NM_017649 CNNM2,CNNM2 EXON Missense_N757S,Missense_N779S exm852834 10 104836902 [A/G] NM_199076,NM_017649 CNNM2,CNNM2 EXON Missense_A843T,Missense_A865T exm-rs11191548 10 104846178 [T/C] exm852837 10 104849450 [A/C] NM_001134373,NM_012229 NT5C2,NT5C2 EXON Missense_E555D,Missense_E555D exm852842 10 104849496 [A/G] NM_001134373,NM_012229 NT5C2,NT5C2 EXON Missense_A540V,Missense_A540V exm1669803 10 104858719 [A/G] NM_001134373,NM_012229 NT5C2,NT5C2 EXON Missense_V219A,Missense_V219A exm852884 10 104861066 [T/C] NM_001134373,NM_012229 NT5C2,NT5C2 EXON Missense_Q136R,Missense_Q136R exm852886 10 104866388 [T/C] NM_001134373,NM_012229 NT5C2,NT5C2 EXON Missense_Q84R,Missense_Q84R exm852890 10 104899197 [G/C] NM_001134373,NM_012229 NT5C2,NT5C2 EXON Missense_K47N,Missense_K47N exm-rs11191580 10 104906211 [T/C] NM_001134373,NM_012229 NT5C2,NT5C2 Silent,Silent exm852895 10 104934709 [T/C] NM_001134373,NM_012229 NT5C2,NT5C2 EXON Missense_T3A,Missense_T3A exm852900 10 105005891 [A/C] NM_001143909 LOC729020 EXON Missense_N46K exm2216632 10 105005925 [T/C] NM_001143909 LOC729020 EXON Nonsense_R58X exm852901 10 105005926 [A/G] NM_001143909 LOC729020 EXON Missense_R58Q exm852902 10 105005931 [T/C] NM_001143909 LOC729020 EXON Nonsense_Q60X exm852910 10 105037047 [C/G] NM_032727 INA EXON Missense_A27P exm852930 10 105038008 [A/G] NM_032727 INA EXON Missense_H347R exm852936 10 105048217 [A/C] NM_032727 INA EXON Missense_I431L exm852944 10 105048373 [A/C] NM_032727 INA EXON Missense_K483Q exm852959 10 105107048 [T/C] NM_001011663,NM_032154 PCGF6,PCGF6 EXON Missense_K207R,Silent exm852967 10 105108555 [T/C] NM_001011663,NM_032154 PCGF6,PCGF6 EXON Missense_I159V,Missense_I159V exm852974 10 105108756 [A/G] NM_001011663,NM_032154 PCGF6,PCGF6 EXON Missense_R121C,Missense_R121C exm853012 10 105133224 [G/C] NM_006951 TAF5 EXON Missense_H223Q exm853019 10 105138047 [G/C] NM_006951 TAF5 EXON Missense_L285V exm853029 10 105139477 [A/G] NM_006951 TAF5 EXON Missense_S409N exm853042 10 105141551 [T/C] NM_006951 TAF5 EXON Missense_V496A exm853067 10 105152127 [C/G] NM_032747,NM_001206427,NM_001206426 USMG5,USMG5,USMG5 Silent,Silent,Silent exm853093 10 105160184 [A/G] NM_014976 PDCD11 EXON Missense_K45E exm853097 10 105162917 [T/G] NM_014976 PDCD11 EXON Missense_V93L exm853099 10 105162951 [A/G] NM_014976 PDCD11 EXON Missense_N104S exm853103 10 105164830 [A/G] NM_014976 PDCD11 EXON Missense_V152M exm853104 10 105164845 [C/G] NM_014976 PDCD11 EXON Missense_G157R exm853108 10 105166468 [T/C] NM_014976 PDCD11 EXON Missense_T264M exm853112 10 105169504 [A/G] NM_014976 PDCD11 EXON Missense_V307M exm853117 10 105172894 [A/G] NM_014976 PDCD11 EXON Missense_V334I exm853121 10 105172982 [A/C] NM_014976 PDCD11 EXON Missense_N363T exm853126 10 105173078 [A/G] NM_014976 PDCD11 EXON Missense_R395Q exm853131 10 105173778 [A/G] NM_014976 PDCD11 EXON Missense_G414E exm853132 10 105173844 [A/G] NM_014976 PDCD11 EXON Missense_R436Q exm853141 10 105174832 [G/C] NM_014976 PDCD11 EXON Missense_P481R exm853150 10 105176350 [T/C] NM_014976 PDCD11 EXON Missense_P541S exm1669915 10 105177564 [A/G] NM_014976 PDCD11 EXON Missense_V596I exm853161 10 105177645 [T/G] NM_014976 PDCD11 EXON Missense_A623S exm853162 10 105177658 [A/G] NM_014976 PDCD11 EXON Missense_Q627R exm853164 10 105177688 [A/G] NM_014976 PDCD11 EXON Missense_Q637R exm853173 10 105178347 [A/G] NM_014976 PDCD11 EXON Missense_I688V exm853174 10 105178380 [A/G] NM_014976 PDCD11 EXON Missense_E699K exm853179 10 105179386 [T/C] NM_014976 PDCD11 EXON Missense_I733T exm853180 10 105179418 [A/G] NM_014976 PDCD11 EXON Missense_V744M exm853199 10 105182795 [A/G] NM_014976 PDCD11 EXON Missense_D850N exm853210 10 105183348 [T/C] NM_014976 PDCD11 EXON Missense_V899A exm853217 10 105184858 [A/G] NM_014976 PDCD11 EXON Missense_D961N exm853218 10 105184868 [A/G] NM_014976 PDCD11 EXON Missense_R964H exm853221 10 105184991 [T/C] NM_014976 PDCD11 EXON Missense_P1005L exm853223 10 105185011 [T/A] NM_014976 PDCD11 EXON Missense_T1012S exm853228 10 105185281 [A/G] NM_014976 PDCD11 EXON Missense_K1102E exm853243 10 105193754 [A/G] NM_014976 PDCD11 EXON Missense_R1175Q exm853248 10 105194086 [T/C] NM_014976 PDCD11 EXON Missense_L1216F exm853256 10 105197800 [A/G] NM_014976 PDCD11 EXON Missense_V1292I exm853257 10 105198457 [T/C] NM_014976 PDCD11 EXON Missense_T1306M exm853264 10 105199552 [A/C] NM_014976 PDCD11 EXON Missense_H1359N exm853268 10 105200111 [A/G] NM_014976 PDCD11 EXON Missense_V1405M exm853285 10 105201595 [A/C] NM_014976 PDCD11 EXON Missense_K1524Q exm853294 10 105201996 [T/G] NM_014976 PDCD11 EXON Missense_E1578D exm853295 10 105202013 [T/C] NM_014976 PDCD11 EXON Missense_A1584V exm853296 10 105202021 [A/G] NM_014976 PDCD11 EXON Missense_E1587K exm853303 10 105202091 [T/G] NM_014976 PDCD11 EXON Missense_R1610L exm853304 10 105202123 [C/G] NM_014976 PDCD11 EXON Missense_L1621V exm853306 10 105202160 [T/C] NM_014976 PDCD11 EXON Missense_T1633M exm853315 10 105202974 [A/G] NM_014976 PDCD11 EXON Missense_M1670V exm853323 10 105203769 [T/C] NM_014976 PDCD11 EXON Missense_A1741V exm853326 10 105203785 [T/C] NM_014976 PDCD11 EXON Synonymous_R1746R exm2249010 10 105203785 [T/C] NM_014976 PDCD11 EXON Synonymous_R1746R exm853331 10 105204295 [T/C] NM_014976 PDCD11 EXON Missense_F1767S exm853335 10 105204355 [T/C] NM_014976 PDCD11 EXON Missense_T1787M exm853336 10 105204367 [A/G] NM_014976 PDCD11 EXON Missense_Y1791C exm1669975 10 105204405 [A/G] NM_014976 PDCD11 EXON Missense_M1804V exm853344 10 105205137 [A/G] NM_014976 PDCD11 EXON Missense_D1816G exm853347 10 105205176 [A/G] NM_014976 PDCD11 EXON Missense_K1829R exm853352 10 105205260 [A/G] NM_014976 PDCD11 EXON Missense_K1857R exm853355 10 105205302 [A/C] NM_014976 PDCD11 EXON Missense_D1871A exm853373 10 105207196 [A/G] NM_015916,NR_024552,NR_046344 CALHM2,CALHM2,CALHM2 EXON Nonsense_Q229X,Silent,Silent exm853376 10 105207249 [A/G] NM_015916,NR_024552,NR_046344 CALHM2,CALHM2,CALHM2 EXON Missense_P211L,Silent,Silent exm853379 10 105207301 [T/C] NM_015916,NR_024552,NR_046344 CALHM2,CALHM2,CALHM2 EXON Missense_V194M,Silent,Silent exm853380 10 105207308 [A/G] NM_015916,NR_024552,NR_046344 CALHM2,CALHM2,CALHM2 EXON Synonymous_L191L,Silent,Silent exm2249011 10 105207308 [A/G] NM_015916,NR_024552,NR_046344 CALHM2,CALHM2,CALHM2 EXON Synonymous_L191L,Silent,Silent exm853383 10 105209166 [T/C] NM_015916,NR_024552,NR_046344 CALHM2,CALHM2,CALHM2 EXON Missense_R178H,Silent,Silent exm2216643 10 105209292 [A/C] NM_015916,NR_024552,NR_046344 CALHM2,CALHM2,CALHM2 EXON Missense_V136G,Silent,Silent exm853391 10 105209413 [T/C] NM_015916,NR_024552,NR_046344 CALHM2,CALHM2,CALHM2 EXON Missense_A96T,Silent,Silent exm2216644 10 105209545 [A/G] NM_015916,NR_024552,NR_046344 CALHM2,CALHM2,CALHM2 EXON Missense_R52W,Silent,Silent exm853409 10 105209696 [T/C] NM_015916,NR_024552,NR_046344 CALHM2,CALHM2,CALHM2 EXON Missense_M1I,Silent,Silent exm853414 10 105215062 [T/C] NM_001001412 CALHM1 EXON Missense_R333Q exm853415 10 105215071 [T/C] NM_001001412 CALHM1 EXON Missense_G330D exm853417 10 105215084 [T/C] NM_001001412 CALHM1 EXON Missense_G326S exm853419 10 105215091 [T/C] NM_001001412 CALHM1 EXON Missense_M323I exm853421 10 105215119 [A/C] NM_001001412 CALHM1 EXON Missense_R314L exm1669992 10 105215147 [T/G] NM_001001412 CALHM1 EXON Missense_S305R exm853426 10 105215179 [A/G] NM_001001412 CALHM1 EXON Missense_T294M exm853440 10 105215327 [T/C] NM_001001412 CALHM1 EXON Missense_V245I exm853451 10 105215486 [A/C] NM_001001412 CALHM1 EXON Missense_V192L exm853458 10 105218007 [T/C] NM_001001412 CALHM1 EXON Missense_D168N exm853461 10 105218034 [T/C] NM_001001412 CALHM1 EXON Missense_V159M exm853474 10 105218160 [T/C] NM_001001412 CALHM1 EXON Missense_V117I exm853479 10 105218235 [A/C] NM_001001412 CALHM1 EXON Missense_D92Y exm853480 10 105218243 [T/C] NM_001001412 CALHM1 EXON Missense_R89Q exm853481 10 105218252 [A/G] NM_001001412 CALHM1 EXON Missense_L86P exm853483 10 105218259 [A/G] NM_001001412 CALHM1 EXON Missense_R84W exm1670006 10 105218301 [C/G] NM_001001412 CALHM1 EXON Missense_V70L exm853490 10 105218349 [T/C] NM_001001412 CALHM1 EXON Missense_A54T exm853494 10 105218363 [T/C] NM_001001412 CALHM1 EXON Missense_N49S exm853496 10 105218421 [T/C] NM_001001412 CALHM1 EXON Missense_A30T exm2271345 10 105225201 [T/C] exm853505 10 105233110 [T/C] NM_001129742 CALHM3 EXON Missense_D299N exm853508 10 105233253 [T/C] NM_001129742 CALHM3 EXON Missense_R251Q exm853510 10 105233385 [T/C] NM_001129742 CALHM3 EXON Missense_Q207R exm853514 10 105236064 [T/C] NM_001129742 CALHM3 EXON Missense_R177Q exm853516 10 105236242 [A/G] NM_001129742 CALHM3 EXON Missense_L118F exm853527 10 105254197 [A/G] NM_004210 NEURL EXON Missense_R18H exm-rs7071247 10 105257786 [T/G] NM_004210 NEURL Silent exm2267126 10 105271758 [A/G] NM_004210 NEURL Silent exm853528 10 105330634 [A/G] NM_004210 NEURL EXON Missense_I31V exm853549 10 105331459 [T/C] NM_004210 NEURL EXON Missense_R177C exm853555 10 105331493 [T/C] NM_004210 NEURL EXON Missense_M188T exm853566 10 105344451 [A/G] NM_004210 NEURL EXON Missense_G270S exm853590 10 105349328 [T/C] NM_004210 NEURL EXON Missense_T466M exm853593 10 105349340 [T/C] NM_004210 NEURL EXON Missense_P470L exm853596 10 105349385 [A/G] NM_004210 NEURL EXON Missense_C485Y exm853600 10 105349923 [A/G] NM_004210 NEURL EXON Missense_E507K exm2249012 10 105349988 [G/C] NM_004210 NEURL EXON Synonymous_A528A exm853611 10 105350089 [A/G] NM_004210 NEURL EXON Missense_R562H exm853617 10 105361679 [A/T] NM_014631 SH3PXD2A EXON Missense_E1071V exm853625 10 105361800 [A/G] NM_014631 SH3PXD2A EXON Missense_R1031C exm853631 10 105361869 [T/C] NM_014631 SH3PXD2A EXON Missense_A1008T exm853635 10 105361884 [A/G] NM_014631 SH3PXD2A EXON Missense_R1003C exm853640 10 105361911 [A/G] NM_014631 SH3PXD2A EXON Missense_R994C exm853642 10 105361941 [T/C] NM_014631 SH3PXD2A EXON Missense_V984I exm853643 10 105361982 [T/C] NM_014631 SH3PXD2A EXON Missense_R970Q exm853652 10 105362103 [T/C] NM_014631 SH3PXD2A EXON Missense_G930S exm853662 10 105362235 [T/C] NM_014631 SH3PXD2A EXON Missense_A886T exm853676 10 105362444 [A/G] NM_014631 SH3PXD2A EXON Missense_S816L exm853683 10 105362535 [T/C] NM_014631 SH3PXD2A EXON Missense_G786R exm2274437 10 105362610 [A/G] NM_014631 SH3PXD2A EXON Missense_R761C exm853690 10 105362614 [A/C] NM_014631 SH3PXD2A EXON Missense_Q759H exm853692 10 105362625 [A/G] NM_014631 SH3PXD2A EXON Missense_P756S exm853694 10 105362681 [C/G] NM_014631 SH3PXD2A EXON Missense_A737G exm853695 10 105362705 [T/C] NM_014631 SH3PXD2A EXON Missense_R729Q exm853698 10 105362735 [A/G] NM_014631 SH3PXD2A EXON Missense_T719I exm853703 10 105362790 [A/G] NM_014631 SH3PXD2A EXON Missense_R701C exm853712 10 105362954 [T/C] NM_014631 SH3PXD2A EXON Missense_E646G exm853721 10 105363171 [A/G] NM_014631 SH3PXD2A EXON Missense_R574C exm853726 10 105363194 [A/G] NM_014631 SH3PXD2A EXON Missense_P566L exm853733 10 105363261 [T/A] NM_014631 SH3PXD2A EXON Missense_S544C exm853735 10 105363289 [T/C] NM_014631 SH3PXD2A EXON Synonymous_A534A exm2249015 10 105363289 [T/C] NM_014631 SH3PXD2A EXON Synonymous_A534A exm2274438 10 105371375 [A/C] NM_014631 SH3PXD2A EXON Missense_L396R exm853757 10 105372696 [A/G] NM_014631 SH3PXD2A EXON Missense_A363V exm853768 10 105372879 [T/C] NM_014631 SH3PXD2A EXON Missense_R302Q exm853772 10 105376984 [T/C] NM_014631 SH3PXD2A EXON Missense_R269Q exm2249016 10 105385350 [A/G] NM_014631 SH3PXD2A Silent exm853778 10 105386860 [A/G] NM_014631 SH3PXD2A EXON Missense_S235F exm853779 10 105386873 [T/C] NM_014631 SH3PXD2A EXON Missense_D231N exm1670086 10 105484098 [A/G] NM_014631 SH3PXD2A EXON Missense_H110Y exm853801 10 105495491 [T/C] NM_014631 SH3PXD2A EXON Missense_R102Q exm853803 10 105495531 [T/C] NM_014631 SH3PXD2A EXON Missense_V89I exm853815 10 105642449 [A/G] NM_024928 OBFC1 EXON Missense_A367V exm853818 10 105642542 [T/C] NM_024928 OBFC1 EXON Missense_R336H exm-rs3814219 10 105647095 [A/G] NM_024928 OBFC1 Silent exm853823 10 105651940 [T/C] NM_024928 OBFC1 EXON Missense_Q275R exm853824 10 105651955 [A/G] NM_024928 OBFC1 EXON Missense_A270V exm853826 10 105651971 [T/G] NM_024928 OBFC1 EXON Missense_S265R exm853827 10 105657316 [G/C] NM_024928 OBFC1 EXON Missense_S248C exm853842 10 105659826 [T/C] NM_024928 OBFC1 EXON Missense_T151A exm853843 10 105659880 [A/G] NM_024928 OBFC1 EXON Nonsense_R133X exm2216654 10 105659885 [A/G] NM_024928 OBFC1 EXON Missense_T131M exm853844 10 105659916 [T/C] NM_024928 OBFC1 EXON Missense_E121K exm1670116 10 105670354 [T/C] NM_024928 OBFC1 EXON Missense_I54V exm853851 10 105677295 [A/C] NM_024928 OBFC1 EXON Missense_D20Y exm853852 10 105677312 [G/C] NM_024928 OBFC1 EXON Missense_S14C exm-rs4387287 10 105677897 [A/C] NM_024928 OBFC1 EXON Silent exm-rs7913069 10 105714399 [T/C] exm853858 10 105727558 [A/C] NM_014720 SLK EXON Missense_K19Q exm1670139 10 105762362 [G/C] NM_014720 SLK EXON Missense_E476Q exm853891 10 105762543 [A/G] NM_014720 SLK EXON Missense_K536R exm853894 10 105762591 [A/G] NM_014720 SLK EXON Missense_C552Y exm853898 10 105762654 [A/G] NM_014720 SLK EXON Missense_D573G exm853900 10 105762813 [A/G] NM_014720 SLK EXON Missense_N626S exm853901 10 105762909 [G/C] NM_014720 SLK EXON Missense_A658G exm853902 10 105762922 [A/C] NM_014720 SLK EXON Missense_Q662H exm853903 10 105762933 [A/G] NM_014720 SLK EXON Missense_G666E exm1670147 10 105762945 [A/G] NM_014720 SLK EXON Missense_Q670R exm853906 10 105762972 [T/C] NM_014720 SLK EXON Missense_I679T exm853909 10 105763178 [A/C] NM_014720 SLK EXON Missense_N748H exm853910 10 105763272 [T/C] NM_014720 SLK EXON Missense_S779L exm853916 10 105765430 [A/G] NM_014720 SLK EXON Missense_E821K exm853929 10 105768037 [A/G] NM_014720 SLK EXON Missense_E903K exm853935 10 105770582 [T/G] NM_014720 SLK EXON Missense_N931K exm853938 10 105777973 [A/T] NM_014720 SLK EXON Missense_I978N exm853947 10 105779642 [A/C] NM_014720 SLK EXON Missense_T1095P exm853951 10 105780285 [A/G] NM_014720 SLK EXON Missense_M1121V exm853959 10 105781447 [G/C] NM_014720 SLK EXON Missense_Q1173E exm853960 10 105781457 [A/C] NM_014720 SLK EXON Missense_K1176T exm853974 10 105792021 [T/C] NM_000494 COL17A1 EXON Missense_R1489K exm853975 10 105792027 [T/C] NM_000494 COL17A1 EXON Missense_R1487Q exm853979 10 105792431 [A/C] NM_000494 COL17A1 Silent exm853984 10 105792494 [G/C] NM_000494 COL17A1 EXON Missense_G1459A exm853988 10 105792717 [A/G] NM_000494 COL17A1 EXON Missense_A1435V exm853997 10 105793750 [T/C] NM_000494 COL17A1 EXON Missense_D1370G exm853998 10 105793778 [T/C] NM_000494 COL17A1 EXON Missense_G1361R exm854001 10 105793826 [T/C] NM_000494 COL17A1 EXON Missense_G1345R exm854002 10 105793831 [A/G] NM_000494 COL17A1 EXON Missense_P1343L exm854008 10 105793895 [T/C] NM_000494 COL17A1 EXON Missense_G1322S exm854014 10 105793991 [A/G] NM_000494 COL17A1 EXON Missense_R1290W exm854020 10 105794406 [A/G] NM_000494 COL17A1 EXON Missense_R1247W exm854022 10 105794415 [T/C] NM_000494 COL17A1 EXON Missense_D1244N exm854034 10 105795288 [A/G] NM_000494 COL17A1 EXON Missense_P1151L exm854053 10 105797397 [A/G] NM_000494 COL17A1 EXON Missense_R1069W exm854058 10 105797484 [A/G] NM_000494 COL17A1 EXON Missense_P1040S exm1670197 10 105797517 [A/C] NM_000494 COL17A1 EXON Missense_S1029A exm854063 10 105798263 [T/C] NM_000494 COL17A1 EXON Missense_V991M exm2216660 10 105798877 [T/C] NM_000494 COL17A1 EXON Missense_D967N exm854071 10 105799263 [T/C] NM_000494 COL17A1 EXON Missense_G946R exm854077 10 105799755 [T/G] NM_000494 COL17A1 EXON Missense_P922T exm854079 10 105800115 [T/C] NM_000494 COL17A1 EXON Missense_D919N exm854083 10 105800166 [T/A] NM_000494 COL17A1 EXON Missense_T902S exm1670225 10 105803584 [G/C] NM_000494 COL17A1 EXON Synonymous_S811S exm854113 10 105805530 [T/C] NM_000494 COL17A1 EXON Missense_R795Q exm854119 10 105806506 [G/C] NM_000494 COL17A1 EXON Missense_Q787H exm854148 10 105810400 [T/C] NM_000494 COL17A1 EXON Missense_M703V exm854152 10 105810612 [T/C] NM_000494 COL17A1 EXON Missense_V696I exm854160 10 105811266 [T/C] NM_000494 COL17A1 EXON Missense_G671S exm854165 10 105813681 [T/C] NM_000494 COL17A1 EXON Missense_V611M exm854167 10 105813701 [T/G] NM_000494 COL17A1 EXON Missense_P604Q exm2216662 10 105815150 [T/C] NM_000494 COL17A1 EXON Missense_R566Q exm854184 10 105815609 [T/G] NM_000494 COL17A1 EXON Missense_L540M exm854187 10 105815646 [T/C] NM_000494 COL17A1 EXON Missense_M527I exm854195 10 105816823 [T/C] NM_000494 COL17A1 EXON Missense_G459S exm854205 10 105816892 [T/C] NM_000494 COL17A1 EXON Missense_G436R exm854206 10 105816894 [C/G] NM_000494 COL17A1 EXON Missense_S435T exm854207 10 105816895 [T/C] NM_000494 COL17A1 EXON Missense_S435G exm854215 10 105819431 [T/C] NM_000494 COL17A1 EXON Missense_Y396C exm854217 10 105819880 [T/C] NM_000494 COL17A1 EXON Missense_A380T exm854219 10 105819937 [C/G] NM_000494 COL17A1 EXON Missense_L361V exm854224 10 105820005 [A/G] NM_000494 COL17A1 EXON Missense_L338S exm854233 10 105821178 [T/C] NM_000494 COL17A1 EXON Missense_V322I exm854235 10 105821184 [T/C] NM_000494 COL17A1 EXON Missense_T320A exm854251 10 105824333 [A/G] NM_000494 COL17A1 EXON Missense_T210M exm854252 10 105824340 [T/C] NM_000494 COL17A1 EXON Missense_D208N exm854253 10 105830185 [G/C] NM_000494 COL17A1 EXON Synonymous_S202S exm854255 10 105830261 [T/C] NM_000494 COL17A1 EXON Missense_R177Q exm854259 10 105832966 [A/C] NM_000494 COL17A1 Silent exm854260 10 105832982 [T/C] NM_000494 COL17A1 EXON Missense_R134Q exm854270 10 105836074 [A/G] NM_000494 COL17A1 EXON Missense_R106C exm854272 10 105836101 [T/C] NM_000494 COL17A1 EXON Missense_T97A exm854274 10 105836157 [C/G] NM_000494 COL17A1 EXON Missense_S78C exm854291 10 105840422 [T/C] NM_000494 COL17A1 EXON Missense_T4A exm-rs1320448 10 105846074 [A/G] exm854308 10 105882765 [A/G] NM_145247,NM_001002759 SFR1,SFR1 EXON Missense_D6G,Missense_D19G exm854319 10 105883704 [A/G] NM_145247,NM_001002759 SFR1,SFR1 EXON Missense_N110S,Missense_N123S exm854327 10 105883872 [T/A] NM_145247,NM_001002759 SFR1,SFR1 EXON Missense_Y166F,Missense_Y179F exm854346 10 105891927 [C/G] NM_025145 WDR96 EXON Missense_L1542V exm854347 10 105891932 [T/C] NM_025145 WDR96 EXON Missense_E1540G exm854353 10 105893386 [A/G] NM_025145 WDR96 EXON Missense_R1530C exm854354 10 105893389 [T/C] NM_025145 WDR96 EXON Missense_D1529N exm854356 10 105893436 [T/G] NM_025145 WDR96 EXON Missense_D1513A exm854360 10 105900601 [T/C] NM_025145 WDR96 EXON Missense_R1477Q exm854361 10 105900602 [A/G] NM_025145 WDR96 EXON Missense_R1477W exm854372 10 105903253 [T/G] NM_025145 WDR96 EXON Missense_E1363D exm854381 10 105905243 [T/C] NM_025145 WDR96 EXON Missense_R1312H exm854384 10 105905262 [T/G] NM_025145 WDR96 EXON Missense_L1306I exm854387 10 105906045 [A/C] NM_025145 WDR96 EXON Nonsense_Y1277X exm854388 10 105906086 [A/G] NM_025145 WDR96 EXON Missense_R1264W exm854411 10 105922110 [T/C] NM_025145 WDR96 EXON Missense_V1100M exm854418 10 105923917 [T/C] NM_025145 WDR96 EXON Missense_V1061I exm854422 10 105923979 [T/C] NM_025145 WDR96 EXON Missense_R1040H exm854427 10 105926314 [A/C] NM_025145 WDR96 EXON Missense_S991A exm854431 10 105926424 [T/C] NM_025145 WDR96 EXON Missense_R954H exm854432 10 105926425 [A/G] NM_025145 WDR96 EXON Missense_R954C exm854433 10 105926433 [A/G] NM_025145 WDR96 EXON Missense_I951T exm1670337 10 105926472 [T/C] NM_025145 WDR96 EXON Missense_R938Q exm2271431 10 105927104 [T/C] NM_025145 WDR96 Silent exm854442 10 105927450 [A/G] NM_025145 WDR96 EXON Missense_R913C exm2249018 10 105927460 [T/C] NM_025145 WDR96 EXON Synonymous_P909P exm854446 10 105927496 [T/C] NM_025145 WDR96 Silent exm854448 10 105928535 [T/C] NM_025145 WDR96 EXON Nonsense_W886X exm854449 10 105928605 [A/G] NM_025145 WDR96 EXON Missense_M863T exm2249019 10 105932207 [T/C] NM_025145 WDR96 EXON Synonymous_L849L exm854460 10 105942201 [T/C] NM_025145 WDR96 EXON Missense_A738T exm854467 10 105944885 [T/C] NM_025145 WDR96 EXON Missense_R677Q exm854470 10 105945743 [T/C] NM_025145 WDR96 EXON Missense_V667I exm1670360 10 105945749 [A/G] NM_025145 WDR96 EXON Nonsense_R665X exm854478 10 105945842 [T/C] NM_025145 WDR96 EXON Missense_V634I exm854483 10 105947092 [A/G] NM_025145 WDR96 EXON Missense_L616F exm854494 10 105947247 [A/G] NM_025145 WDR96 EXON Missense_S564F exm854503 10 105953628 [T/C] NM_025145 WDR96 EXON Missense_V480I exm854517 10 105957693 [A/G] NM_025145 WDR96 EXON Missense_T400I exm854519 10 105957714 [A/G] NM_025145 WDR96 EXON Missense_I393T exm854525 10 105963485 [A/G] NM_025145 WDR96 EXON Missense_V347A exm854528 10 105963501 [G/C] NM_025145 WDR96 EXON Missense_E342Q exm854529 10 105963506 [A/G] NM_025145 WDR96 EXON Missense_F340S exm854534 10 105965738 [T/C] NM_025145 WDR96 EXON Missense_V316M exm854535 10 105965755 [A/G] NM_025145 WDR96 EXON Missense_V310A exm-rs515910 10 105966404 [A/G] NM_025145 WDR96 Silent exm854539 10 105967428 [A/G] NM_025145 WDR96 EXON Missense_P297L exm854541 10 105967431 [A/G] NM_025145 WDR96 EXON Missense_S296L exm854543 10 105967480 [T/G] NM_025145 WDR96 EXON Missense_N280H exm854547 10 105967554 [T/C] NM_025145 WDR96 EXON Missense_H255R exm854549 10 105967573 [A/C] NM_025145 WDR96 EXON Missense_D249Y exm854556 10 105971844 [A/G] NM_025145 WDR96 EXON Missense_P219L exm854560 10 105971911 [T/C] NM_025145 WDR96 EXON Missense_V197M exm854562 10 105974029 [T/C] NM_025145 WDR96 EXON Missense_C191Y exm854565 10 105974122 [T/A] NM_025145 WDR96 EXON Missense_M160K exm854576 10 105985300 [A/T] NM_025145 WDR96 EXON Missense_D112V exm854577 10 105990374 [T/C] NM_025145 WDR96 EXON Missense_G98E exm854593 10 106014706 [A/G] NM_001191003,NM_004832,NM_001191002 GSTO1,GSTO1,GSTO1 EXON Silent,Missense_R7K,Missense_R7K exm854612 10 106022789 [A/C] NM_001191003,NM_004832,NM_001191002 GSTO1,GSTO1,GSTO1 EXON Missense_A112D,Missense_A140D,Silent exm854616 10 106025864 [T/C] NM_001191003,NM_004832,NM_001191002 GSTO1,GSTO1,GSTO1 EXON Missense_T135I,Missense_T163I,Missense_T130I exm854617 10 106025879 [A/G] NM_001191003,NM_004832,NM_001191002 GSTO1,GSTO1,GSTO1 EXON Missense_N140S,Missense_N168S,Missense_N135S exm1670407 10 106025912 [T/C] NM_001191003,NM_004832,NM_001191002 GSTO1,GSTO1,GSTO1 EXON Missense_P151L,Missense_P179L,Missense_P146L exm854619 10 106027059 [A/G] NM_001191003,NM_004832,NM_001191002 GSTO1,GSTO1,GSTO1 EXON Missense_E180K,Missense_E208K,Missense_E175K exm854622 10 106027144 [T/C] NM_001191003,NM_004832,NM_001191002 GSTO1,GSTO1,GSTO1 EXON Missense_A208V,Missense_A236V,Missense_A203V exm854629 10 106034982 [A/G] NM_001191013,NM_183239,NM_001191015,NM_001191014 GSTO2,GSTO2,GSTO2,GSTO2 EXON Silent,Silent,Silent,Silent exm854635 10 106035070 [A/G] NM_001191013,NM_183239,NM_001191015,NM_001191014 GSTO2,GSTO2,GSTO2,GSTO2 EXON Missense_V41I,Missense_V41I,Missense_V13I,Missense_V13I exm854639 10 106037734 [T/G] NM_001191013,NM_183239,NM_001191015,NM_001191014 GSTO2,GSTO2,GSTO2,GSTO2 EXON Nonsense_E76X,Nonsense_E76X,Nonsense_E48X,Nonsense_E48X exm1670419 10 106039141 [T/C] NM_001191013,NM_183239,NM_001191015,NM_001191014 GSTO2,GSTO2,GSTO2,GSTO2 EXON Silent,Missense_T127I,Silent,Missense_T99I exm854649 10 106039185 [A/G] NM_001191013,NM_183239,NM_001191015,NM_001191014 GSTO2,GSTO2,GSTO2,GSTO2 EXON Silent,Missense_N142D,Silent,Missense_N114D exm854650 10 106039189 [T/C] NM_001191013,NM_183239,NM_001191015,NM_001191014 GSTO2,GSTO2,GSTO2,GSTO2 EXON Silent,Missense_L143P,Silent,Missense_L115P exm854653 10 106057334 [A/G] NM_001191013,NM_183239,NM_001191015,NM_001191014 GSTO2,GSTO2,GSTO2,GSTO2 Silent,Silent,Silent,Silent exm854654 10 106057339 [A/C] NM_001191013,NM_183239,NM_001191015,NM_001191014 GSTO2,GSTO2,GSTO2,GSTO2 EXON Missense_L124I,Missense_L158I,Missense_L96I,Missense_L130I exm854657 10 106057353 [A/C] NM_001191013,NM_183239,NM_001191015,NM_001191014 GSTO2,GSTO2,GSTO2,GSTO2 EXON Missense_N128K,Missense_N162K,Missense_N100K,Missense_N134K exm854663 10 106058936 [A/G] NM_001191013,NM_183239,NM_001191015,NM_001191014 GSTO2,GSTO2,GSTO2,GSTO2 EXON Nonsense_W175X,Nonsense_W209X,Nonsense_W147X,Nonsense_W181X exm854669 10 106074213 [T/C] NM_001272013,NM_001272012,NM_033397 ITPRIP,ITPRIP,ITPRIP EXON Missense_E533K,Missense_E533K,Missense_E533K exm854679 10 106074366 [A/G] NM_001272013,NM_001272012,NM_033397 ITPRIP,ITPRIP,ITPRIP EXON Missense_R482C,Missense_R482C,Missense_R482C exm854690 10 106074645 [A/G] NM_001272013,NM_001272012,NM_033397 ITPRIP,ITPRIP,ITPRIP EXON Nonsense_R389X,Nonsense_R389X,Nonsense_R389X exm854691 10 106074650 [T/C] NM_001272013,NM_001272012,NM_033397 ITPRIP,ITPRIP,ITPRIP EXON Missense_Y387C,Missense_Y387C,Missense_Y387C exm854693 10 106074693 [T/G] NM_001272013,NM_001272012,NM_033397 ITPRIP,ITPRIP,ITPRIP EXON Missense_T373P,Missense_T373P,Missense_T373P exm854708 10 106074920 [A/G] NM_001272013,NM_001272012,NM_033397 ITPRIP,ITPRIP,ITPRIP EXON Missense_T297M,Missense_T297M,Missense_T297M exm854712 10 106075005 [A/G] NM_001272013,NM_001272012,NM_033397 ITPRIP,ITPRIP,ITPRIP EXON Missense_L269F,Missense_L269F,Missense_L269F exm854717 10 106075100 [T/C] NM_001272013,NM_001272012,NM_033397 ITPRIP,ITPRIP,ITPRIP EXON Missense_R237H,Missense_R237H,Missense_R237H exm854719 10 106075130 [A/C] NM_001272013,NM_001272012,NM_033397 ITPRIP,ITPRIP,ITPRIP EXON Missense_W227L,Missense_W227L,Missense_W227L exm1670433 10 106075173 [A/G] NM_001272013,NM_001272012,NM_033397 ITPRIP,ITPRIP,ITPRIP EXON Missense_P213S,Missense_P213S,Missense_P213S exm854726 10 106075269 [A/G] NM_001272013,NM_001272012,NM_033397 ITPRIP,ITPRIP,ITPRIP EXON Missense_R181W,Missense_R181W,Missense_R181W exm854736 10 106075482 [T/C] NM_001272013,NM_001272012,NM_033397 ITPRIP,ITPRIP,ITPRIP EXON Missense_G110R,Missense_G110R,Missense_G110R exm854739 10 106075500 [A/G] NM_001272013,NM_001272012,NM_033397 ITPRIP,ITPRIP,ITPRIP EXON Missense_R104W,Missense_R104W,Missense_R104W exm854744 10 106075592 [A/G] NM_001272013,NM_001272012,NM_033397 ITPRIP,ITPRIP,ITPRIP EXON Missense_A73V,Missense_A73V,Missense_A73V exm2271346 10 106078937 [T/C] NM_001272013,NM_001272012,NM_033397 ITPRIP,ITPRIP,ITPRIP Silent,Silent,Silent exm854769 10 106118360 [A/G] NM_001008723 CCDC147 EXON Missense_T91A exm854773 10 106121812 [A/C] NM_001008723 CCDC147 EXON Nonsense_S108X exm854776 10 106124511 [T/C] NM_001008723 CCDC147 EXON Missense_F154S exm854777 10 106124518 [A/C] NM_001008723 CCDC147 EXON Missense_E156D exm854778 10 106124567 [T/C] NM_001008723 CCDC147 EXON Nonsense_R173X exm854781 10 106124612 [T/C] NM_001008723 CCDC147 EXON Nonsense_R188X exm1670453 10 106125594 [A/G] NM_001008723 CCDC147 EXON Missense_R207H exm854786 10 106125612 [A/G] NM_001008723 CCDC147 EXON Missense_R213Q exm854801 10 106128277 [G/C] NM_001008723 CCDC147 EXON Missense_Q297E exm2216677 10 106130654 [T/C] NM_001008723 CCDC147 EXON Missense_A311V exm854805 10 106130692 [A/G] NM_001008723 CCDC147 EXON Missense_G324R exm854810 10 106130773 [A/G] NM_001008723 CCDC147 EXON Missense_K351E exm2216678 10 106130797 [A/G] NM_001008723 CCDC147 EXON Missense_V359M exm854811 10 106130801 [A/G] NM_001008723 CCDC147 EXON Missense_G360E exm854816 10 106139806 [A/G] NM_001008723 CCDC147 EXON Missense_N398S exm854820 10 106139850 [A/G] NM_001008723 CCDC147 EXON Missense_A413T exm854822 10 106139923 [A/G] NM_001008723 CCDC147 EXON Missense_H437R exm854824 10 106139938 [A/G] NM_001008723 CCDC147 EXON Missense_R442H exm854828 10 106139973 [T/C] NM_001008723 CCDC147 EXON Nonsense_Q454X exm854831 10 106152111 [A/T] NM_001008723 CCDC147 EXON Missense_S496T exm854834 10 106153104 [A/G] NM_001008723 CCDC147 EXON Missense_M515I exm854840 10 106153199 [A/T] NM_001008723 CCDC147 EXON Missense_Q547L exm854841 10 106153201 [A/C] NM_001008723 CCDC147 EXON Missense_Q548K exm854842 10 106153204 [T/C] NM_001008723 CCDC147 EXON Nonsense_R549X exm854849 10 106159169 [A/G] NM_001008723 CCDC147 EXON Missense_E576K exm854851 10 106159202 [T/C] NM_001008723 CCDC147 EXON Nonsense_R587X exm854858 10 106160481 [A/G] NM_001008723 CCDC147 EXON Missense_R620H exm854861 10 106160516 [A/C] NM_001008723 CCDC147 EXON Missense_K632Q exm854867 10 106163519 [T/C] NM_001008723 CCDC147 EXON Missense_L691S exm854868 10 106163533 [T/C] NM_001008723 CCDC147 EXON Missense_R696C exm1670495 10 106207474 [A/G] NM_001008723 CCDC147 EXON Missense_M759V exm854880 10 106209864 [T/G] NM_001008723 CCDC147 EXON Missense_Q804H exm854882 10 106209944 [A/G] NM_001008723 CCDC147 EXON Missense_R831H exm854885 10 106214189 [G/C] NM_001008723 CCDC147 EXON Missense_D840E exm854891 10 106214272 [A/C] NM_001008723 CCDC147 EXON Missense_T868N exm854902 10 106401380 [A/G] NM_014978 SORCS3 EXON Missense_G99S exm854913 10 106602595 [A/G] NM_014978 SORCS3 EXON Missense_V225M exm2259516 10 106731970 [A/G] NM_014978 SORCS3 Silent exm854925 10 106737237 [A/G] NM_014978 SORCS3 EXON Missense_S314G exm854926 10 106802825 [A/G] NM_014978 SORCS3 EXON Missense_M323V exm854927 10 106802841 [A/G] NM_014978 SORCS3 EXON Missense_R328Q exm854930 10 106802862 [A/G] NM_014978 SORCS3 EXON Missense_R335H exm2271348 10 106865955 [T/C] NM_014978 SORCS3 Silent exm854961 10 106916905 [A/G] NM_014978 SORCS3 EXON Missense_I498V exm854962 10 106916941 [A/G] NM_014978 SORCS3 EXON Missense_D510N exm854968 10 106924114 [A/G] NM_014978 SORCS3 EXON Missense_D596N exm1670545 10 106959827 [A/C] NM_014978 SORCS3 EXON Synonymous_R694R exm854990 10 106974224 [A/C] NM_014978 SORCS3 EXON Missense_N800K exm2249025 10 106982878 [T/C] NM_014978 SORCS3 EXON Synonymous_P913P exm855017 10 106982993 [A/G] NM_014978 SORCS3 EXON Missense_G952S exm855038 10 107022160 [A/G] NM_014978 SORCS3 EXON Missense_S1172N exm855039 10 107022174 [A/G] NM_014978 SORCS3 EXON Missense_A1177T exm855049 10 107022247 [T/G] NM_014978 SORCS3 EXON Missense_I1201R exm2267040 10 107026567 [A/G] exm-rs17119461 10 107516352 [T/C] exm2264394 10 107727810 [A/C] exm2264404 10 107973384 [A/C] exm2273469 10 108336970 [A/G] NM_001013031,NM_052918,NM_001206570,NM_001206572 SORCS1,SORCS1,SORCS1,SORCS1 EXON Silent,Silent,Silent,Silent exm855062 10 108337234 [T/C] NM_001013031,NM_052918,NM_001206570,NM_001206572 SORCS1,SORCS1,SORCS1,SORCS1 EXON Silent,Missense_A1151T,Silent,Silent exm855063 10 108337238 [T/G] NM_001013031,NM_052918,NM_001206570,NM_001206572 SORCS1,SORCS1,SORCS1,SORCS1 EXON Silent,Missense_R1149S,Silent,Silent exm855072 10 108338917 [T/C] NM_001013031,NM_052918,NM_001206570,NM_001206572,NM_001206571,NM_001206569 SORCS1,SORCS1,SORCS1,SORCS1,SORCS1,SORCS1 EXON Missense_N1155S,Silent,Silent,Missense_N1155S,Silent,Missense_N1155S exm1670581 10 108338984 [T/C] NM_001013031,NM_052918,NM_001206570,NM_001206572,NM_001206571,NM_001206569 SORCS1,SORCS1,SORCS1,SORCS1,SORCS1,SORCS1 EXON Missense_A1133T,Silent,Silent,Missense_A1133T,Silent,Missense_A1133T exm855075 10 108339001 [A/G] NM_001013031,NM_052918,NM_001206570,NM_001206572,NM_001206571,NM_001206569 SORCS1,SORCS1,SORCS1,SORCS1,SORCS1,SORCS1 EXON Missense_P1127L,Silent,Silent,Missense_P1127L,Silent,Missense_P1127L exm855076 10 108339116 [C/G] NM_001013031,NM_052918,NM_001206570,NM_001206572,NM_001206571,NM_001206569 SORCS1,SORCS1,SORCS1,SORCS1,SORCS1,SORCS1 EXON Silent,Silent,Silent,Silent,Missense_L1128V,Silent exm855077 10 108339146 [T/C] NM_001013031,NM_052918,NM_001206570,NM_001206572,NM_001206571,NM_001206569 SORCS1,SORCS1,SORCS1,SORCS1,SORCS1,SORCS1 EXON Missense_V1118I,Missense_V1118I,Missense_V1118I,Missense_V1118I,Missense_V1118I,Missense_V1118I exm855079 10 108339209 [T/C] NM_001013031,NM_052918,NM_001206570,NM_001206572,NM_001206571,NM_001206569 SORCS1,SORCS1,SORCS1,SORCS1,SORCS1,SORCS1 EXON Missense_T1097A,Missense_T1097A,Missense_T1097A,Missense_T1097A,Missense_T1097A,Missense_T1097A exm855103 10 108377991 [T/C] NM_001013031,NM_052918,NM_001206570,NM_001206572,NM_001206571,NM_001206569 SORCS1,SORCS1,SORCS1,SORCS1,SORCS1,SORCS1 EXON Missense_T946A,Missense_T946A,Missense_T946A,Missense_T946A,Missense_T946A,Missense_T946A exm1670597 10 108380256 [A/G] NM_001013031,NM_052918,NM_001206570,NM_001206572,NM_001206571,NM_001206569 SORCS1,SORCS1,SORCS1,SORCS1,SORCS1,SORCS1 EXON Missense_A909V,Missense_A909V,Missense_A909V,Missense_A909V,Missense_A909V,Missense_A909V exm855110 10 108380263 [T/C] NM_001013031,NM_052918,NM_001206570,NM_001206572,NM_001206571,NM_001206569 SORCS1,SORCS1,SORCS1,SORCS1,SORCS1,SORCS1 EXON Missense_V907I,Missense_V907I,Missense_V907I,Missense_V907I,Missense_V907I,Missense_V907I exm855115 10 108388984 [T/C] NM_001013031,NM_052918,NM_001206570,NM_001206572,NM_001206571,NM_001206569 SORCS1,SORCS1,SORCS1,SORCS1,SORCS1,SORCS1 EXON Missense_A880T,Missense_A880T,Missense_A880T,Missense_A880T,Missense_A880T,Missense_A880T exm855133 10 108412234 [T/C] NM_001013031,NM_052918,NM_001206570,NM_001206572,NM_001206571,NM_001206569 SORCS1,SORCS1,SORCS1,SORCS1,SORCS1,SORCS1 EXON Missense_G794E,Missense_G794E,Missense_G794E,Missense_G794E,Missense_G794E,Missense_G794E exm855134 10 108412249 [T/G] NM_001013031,NM_052918,NM_001206570,NM_001206572,NM_001206571,NM_001206569 SORCS1,SORCS1,SORCS1,SORCS1,SORCS1,SORCS1 EXON Missense_P789Q,Missense_P789Q,Missense_P789Q,Missense_P789Q,Missense_P789Q,Missense_P789Q exm855149 10 108432669 [T/C] NM_001013031,NM_052918,NM_001206570,NM_001206572,NM_001206571,NM_001206569 SORCS1,SORCS1,SORCS1,SORCS1,SORCS1,SORCS1 EXON Missense_R672Q,Missense_R672Q,Missense_R672Q,Missense_R672Q,Missense_R672Q,Missense_R672Q exm855165 10 108447984 [A/G] NM_001013031,NM_052918,NM_001206570,NM_001206572,NM_001206571,NM_001206569 SORCS1,SORCS1,SORCS1,SORCS1,SORCS1,SORCS1 EXON Missense_T509M,Missense_T509M,Missense_T509M,Missense_T509M,Missense_T509M,Missense_T509M exm855178 10 108459112 [T/C] NM_001013031,NM_052918,NM_001206570,NM_001206572,NM_001206571,NM_001206569 SORCS1,SORCS1,SORCS1,SORCS1,SORCS1,SORCS1 EXON Missense_A425T,Missense_A425T,Missense_A425T,Missense_A425T,Missense_A425T,Missense_A425T exm855189 10 108469093 [T/C] NM_001013031,NM_052918,NM_001206570,NM_001206572,NM_001206571,NM_001206569 SORCS1,SORCS1,SORCS1,SORCS1,SORCS1,SORCS1 EXON Missense_H344R,Missense_H344R,Missense_H344R,Missense_H344R,Missense_H344R,Missense_H344R exm855194 10 108489811 [G/C] NM_001013031,NM_052918,NM_001206570,NM_001206572,NM_001206571,NM_001206569 SORCS1,SORCS1,SORCS1,SORCS1,SORCS1,SORCS1 EXON Missense_G341R,Missense_G341R,Missense_G341R,Missense_G341R,Missense_G341R,Missense_G341R exm855197 10 108489867 [A/T] NM_001013031,NM_052918,NM_001206570,NM_001206572,NM_001206571,NM_001206569 SORCS1,SORCS1,SORCS1,SORCS1,SORCS1,SORCS1 EXON Missense_V322E,Missense_V322E,Missense_V322E,Missense_V322E,Missense_V322E,Missense_V322E exm855208 10 108536359 [T/C] NM_001013031,NM_052918,NM_001206570,NM_001206572,NM_001206571,NM_001206569 SORCS1,SORCS1,SORCS1,SORCS1,SORCS1,SORCS1 EXON Missense_Y273C,Missense_Y273C,Missense_Y273C,Missense_Y273C,Missense_Y273C,Missense_Y273C exm2267041 10 108543337 [A/G] NM_001013031,NM_052918,NM_001206570,NM_001206572,NM_001206571,NM_001206569 SORCS1,SORCS1,SORCS1,SORCS1,SORCS1,SORCS1 Silent,Silent,Silent,Silent,Silent,Silent exm855211 10 108589336 [T/C] NM_001013031,NM_052918,NM_001206570,NM_001206572,NM_001206571,NM_001206569 SORCS1,SORCS1,SORCS1,SORCS1,SORCS1,SORCS1 EXON Missense_R241H,Missense_R241H,Missense_R241H,Missense_R241H,Missense_R241H,Missense_R241H exm855212 10 108589337 [A/G] NM_001013031,NM_052918,NM_001206570,NM_001206572,NM_001206571,NM_001206569 SORCS1,SORCS1,SORCS1,SORCS1,SORCS1,SORCS1 EXON Missense_R241C,Missense_R241C,Missense_R241C,Missense_R241C,Missense_R241C,Missense_R241C exm855213 10 108589363 [T/C] NM_001013031,NM_052918,NM_001206570,NM_001206572,NM_001206571,NM_001206569 SORCS1,SORCS1,SORCS1,SORCS1,SORCS1,SORCS1 EXON Missense_Y232C,Missense_Y232C,Missense_Y232C,Missense_Y232C,Missense_Y232C,Missense_Y232C exm2271432 10 108754043 [T/C] NM_001013031,NM_052918,NM_001206570,NM_001206572,NM_001206571,NM_001206569 SORCS1,SORCS1,SORCS1,SORCS1,SORCS1,SORCS1 Silent,Silent,Silent,Silent,Silent,Silent exm855216 10 108923782 [A/G] NM_001013031,NM_052918,NM_001206570,NM_001206572,NM_001206571,NM_001206569 SORCS1,SORCS1,SORCS1,SORCS1,SORCS1,SORCS1 EXON Missense_T168M,Missense_T168M,Missense_T168M,Missense_T168M,Missense_T168M,Missense_T168M exm2267042 10 109033022 [A/G] exm2264405 10 109233349 [A/C] exm2267043 10 109335303 [A/G] exm2267044 10 109894731 [A/G] exm2267128 10 110188670 [A/G] exm2271350 10 111028887 [T/G] exm2267129 10 111222113 [A/G] exm2249036 10 111261278 [A/G] exm-rs11194886 10 111592608 [A/G] exm2216685 10 111624977 [T/G] NM_001167604,NM_020383,NR_030724 XPNPEP1,XPNPEP1,XPNPEP1 EXON Missense_I632L,Missense_I656L,Silent exm855232 10 111625011 [A/C] NM_001167604,NM_020383,NR_030724 XPNPEP1,XPNPEP1,XPNPEP1 EXON Missense_Q620H,Missense_Q644H,Silent exm855241 10 111629722 [A/C] NM_001167604,NM_020383,NR_030724 XPNPEP1,XPNPEP1,XPNPEP1 EXON Missense_V564L,Missense_V588L,Silent exm855259 10 111635352 [A/C] NM_001167604,NM_020383,NR_030724 XPNPEP1,XPNPEP1,XPNPEP1 EXON Silent,Missense_V442G,Silent exm855287 10 111643840 [C/G] NM_001167604,NM_020383,NR_030724 XPNPEP1,XPNPEP1,XPNPEP1 EXON Missense_G272A,Missense_G272A,Silent exm855299 10 111648317 [A/C] NM_001167604,NM_020383,NR_030724 XPNPEP1,XPNPEP1,XPNPEP1 EXON Missense_V151G,Missense_V151G,Silent exm855308 10 111667510 [T/C] NM_001167604,NM_020383,NR_030724 XPNPEP1,XPNPEP1,XPNPEP1 EXON Missense_N62S,Missense_N62S,Silent exm855311 10 111667535 [A/G] NM_001167604,NM_020383,NR_030724 XPNPEP1,XPNPEP1,XPNPEP1 EXON Missense_R54W,Missense_R54W,Silent exm855313 10 111674806 [G/C] NM_001167604,NM_020383,NR_030724 XPNPEP1,XPNPEP1,XPNPEP1 EXON Missense_N28K,Missense_N28K,Silent exm-rs17095355 10 111735750 [T/C] NR_038943 LOC100505933 Silent exm855327 10 111872643 [T/C] NM_019903,NM_016824,NM_001121 ADD3,ADD3,ADD3 EXON Missense_S102P,Missense_S102P,Missense_S102P exm855343 10 111878372 [A/G] NM_019903,NM_016824,NM_001121 ADD3,ADD3,ADD3 EXON Missense_V199I,Missense_V199I,Missense_V199I exm855357 10 111881902 [A/G] NM_019903,NM_016824,NM_001121 ADD3,ADD3,ADD3 EXON Missense_N332S,Missense_N332S,Missense_N332S exm855361 10 111881967 [C/G] NM_019903,NM_016824,NM_001121 ADD3,ADD3,ADD3 EXON Missense_G354R,Missense_G354R,Missense_G354R exm855375 10 111886249 [T/A] NM_019903,NM_016824,NM_001121 ADD3,ADD3,ADD3 EXON Missense_D532E,Missense_D532E,Missense_D532E exm855376 10 111890151 [T/C] NM_019903,NM_016824,NM_001121 ADD3,ADD3,ADD3 EXON Missense_P547S,Missense_P547S,Missense_P547S exm855380 10 111890215 [T/C] NM_019903,NM_016824,NM_001121 ADD3,ADD3,ADD3 EXON Missense_T568I,Missense_T568I,Missense_T568I exm855381 10 111890224 [A/G] NM_019903,NM_016824,NM_001121 ADD3,ADD3,ADD3 EXON Missense_R571H,Missense_R571H,Missense_R571H exm855382 10 111892062 [A/G] NM_019903,NM_016824,NM_001121 ADD3,ADD3,ADD3 Silent,Silent,Silent exm855383 10 111892066 [G/C] NM_019903,NM_016824,NM_001121 ADD3,ADD3,ADD3 EXON Silent,Missense_A579G,Silent exm855385 10 111892090 [A/G] NM_019903,NM_016824,NM_001121 ADD3,ADD3,ADD3 EXON Silent,Missense_D587G,Silent exm855387 10 111892101 [T/G] NM_019903,NM_016824,NM_001121 ADD3,ADD3,ADD3 EXON Silent,Missense_V591F,Silent exm855388 10 111892132 [T/C] NM_019903,NM_016824,NM_001121 ADD3,ADD3,ADD3 EXON Silent,Missense_P601L,Silent exm855389 10 111892134 [A/C] NM_019903,NM_016824,NM_001121 ADD3,ADD3,ADD3 EXON Silent,Missense_Q602K,Silent exm855396 10 111893160 [C/G] NM_019903,NM_016824,NM_001121 ADD3,ADD3,ADD3 EXON Missense_M603I,Missense_M635I,Missense_M603I exm855398 10 111893256 [A/C] NM_019903,NM_016824,NM_001121 ADD3,ADD3,ADD3 EXON Missense_K635N,Missense_K667N,Missense_K635N exm855409 10 111967693 [A/G] NM_130439 MXI1 EXON Missense_A43T exm-rs716595 10 112006486 [A/G] NM_130439,NM_001008541,NM_005962 MXI1,MXI1,MXI1 Silent,Silent,Silent exm855451 10 112039826 [A/G] NM_130439,NM_001008541,NM_005962 MXI1,MXI1,MXI1 EXON Missense_R236H,Missense_R123H,Missense_R169H exm855458 10 112044663 [T/C] NM_130439,NM_001008541,NM_005962 MXI1,MXI1,MXI1 EXON Missense_I269T,Missense_I156T,Missense_I202T exm2267047 10 112183747 [A/G] exm855489 10 112258042 [T/G] NM_004419 DUSP5 EXON Missense_A55S exm855502 10 112262561 [C/G] NM_004419 DUSP5 EXON Missense_E154D exm855516 10 112266822 [A/G] NM_004419 DUSP5 EXON Missense_A220T exm855517 10 112266823 [T/C] NM_004419 DUSP5 EXON Missense_A220V exm855519 10 112266835 [A/G] NM_004419 DUSP5 EXON Missense_H224R exm855526 10 112269883 [A/G] NM_004419 DUSP5 EXON Missense_R285H exm855527 10 112269908 [C/G] NM_004419 DUSP5 EXON Missense_I293M exm855528 10 112269910 [A/G] NM_004419 DUSP5 EXON Missense_K294R exm855536 10 112270117 [T/C] NM_004419 DUSP5 EXON Missense_P363L exm855539 10 112270132 [T/C] NM_004419 DUSP5 EXON Missense_S368L exm855579 10 112344129 [A/G] NM_005445 SMC3 EXON Missense_K427R exm855625 10 112362385 [A/G] NM_005445 SMC3 EXON Missense_V1087I exm855640 10 112540884 [A/C] NM_001134363 RBM20 EXON Missense_P173T exm855643 10 112541047 [T/G] NM_001134363 RBM20 EXON Missense_G227V exm855644 10 112541062 [A/G] NM_001134363 RBM20 EXON Missense_G232D exm855646 10 112541217 [A/G] NM_001134363 RBM20 EXON Missense_G284R exm855656 10 112543134 [T/C] NM_001134363 RBM20 EXON Missense_L429P exm855659 10 112544125 [T/C] NM_001134363 RBM20 EXON Missense_S455L exm855686 10 112572458 [C/G] NM_001134363 RBM20 EXON Missense_W768S exm855687 10 112572473 [A/G] NM_001134363 RBM20 EXON Missense_K773R exm855691 10 112572607 [T/G] NM_001134363 RBM20 EXON Missense_A818S exm855695 10 112581039 [A/G] NM_001134363 RBM20 EXON Missense_D888N exm855705 10 112581546 [T/C] NM_001134363 RBM20 EXON Missense_R1057W exm855706 10 112581547 [A/G] NM_001134363 RBM20 EXON Missense_R1057Q exm855712 10 112583294 [A/G] NM_001134363 RBM20 EXON Missense_E1125K exm855719 10 112595719 [G/C] NM_001134363 RBM20 EXON Missense_E1223Q exm855727 10 112641053 [A/G] NM_001199492,NM_014456,NM_145341 PDCD4,PDCD4,PDCD4 EXON Missense_I22V,Missense_I36V,Missense_I25V exm855744 10 112647565 [T/C] NM_001199492,NM_014456,NM_145341 PDCD4,PDCD4,PDCD4 EXON Missense_T219I,Missense_T233I,Missense_T222I exm855755 10 112650403 [A/G] NM_001199492,NM_014456,NM_145341 PDCD4,PDCD4,PDCD4 EXON Missense_Q308R,Missense_Q322R,Missense_Q311R exm855770 10 112654269 [G/C] NM_001199492,NM_014456,NM_145341 PDCD4,PDCD4,PDCD4 EXON Missense_Q386E,Missense_Q400E,Missense_Q389E exm2274439 10 112661316 [T/C] NM_001243783,NM_001195306,NM_001195304,NM_001195305,NM_001195307 BBIP1,BBIP1,BBIP1,BBIP1,BBIP1 EXON Missense_R9Q,Missense_R31Q,Synonymous_P83P,Missense_R31Q,Silent exm855788 10 112724193 [A/G] NM_007373,NM_001269039 SHOC2,SHOC2 EXON Missense_K26R,Missense_K26R exm855792 10 112724451 [T/C] NM_007373,NM_001269039 SHOC2,SHOC2 EXON Missense_I112T,Missense_I112T exm855794 10 112724471 [A/G] NM_007373,NM_001269039 SHOC2,SHOC2 EXON Missense_I119V,Missense_I119V exm855821 10 112771407 [A/G] NM_007373,NM_001269039 SHOC2,SHOC2 EXON Missense_N527S,Missense_N481S exm855822 10 112771421 [A/G] NM_007373,NM_001269039 SHOC2,SHOC2 EXON Missense_S532G,Missense_S486G exm855847 10 112838337 [A/G] NM_000681 ADRA2A EXON Missense_G195S exm855867 10 112838989 [T/C] NM_000681 ADRA2A EXON Missense_T412M exm-rs869244 10 112909105 [A/G] exm2249039 10 112922409 [T/C] exm-rs6585041 10 112942838 [T/C] exm2271434 10 113022555 [T/C] exm-rs10885122 10 113042093 [T/G] exm2271353 10 113672010 [T/C] exm2273470 10 113913222 [T/C] NM_020918,NM_001244949 GPAM,GPAM EXON Silent,Silent exm855898 10 113915663 [T/C] NM_020918,NM_001244949 GPAM,GPAM EXON Missense_K757R,Missense_K757R exm855917 10 113919752 [A/G] NM_020918,NM_001244949 GPAM,GPAM EXON Missense_P607S,Missense_P607S exm855945 10 113923504 [C/G] NM_020918,NM_001244949 GPAM,GPAM EXON Missense_L460V,Missense_L460V exm2249041 10 113924321 [A/G] NM_020918,NM_001244949 GPAM,GPAM EXON Synonymous_S423S,Synonymous_S423S exm855955 10 113924331 [A/G] NM_020918,NM_001244949 GPAM,GPAM EXON Missense_A420V,Missense_A420V exm855961 10 113926224 [A/G] NM_020918,NM_001244949 GPAM,GPAM EXON Missense_I386T,Missense_I386T exm1670992 10 113933502 [A/C] NM_020918,NM_001244949 GPAM,GPAM EXON Missense_R172M,Missense_R172M exm855986 10 113933599 [G/C] NM_020918,NM_001244949 GPAM,GPAM EXON Missense_Q140E,Missense_Q140E exm-rs2255141 10 113933886 [A/G] NM_020918,NM_001244949 GPAM,GPAM Silent,Silent exm855988 10 113935379 [T/C] NM_020918,NM_001244949 GPAM,GPAM EXON Missense_E131G,Missense_E131G exm855994 10 113935449 [A/G] NM_020918,NM_001244949 GPAM,GPAM EXON Missense_R108C,Missense_R108C exm855999 10 113940329 [T/C] NM_020918,NM_001244949 GPAM,GPAM EXON Missense_I43V,Missense_I43V exm2267130 10 113963430 [A/G] exm856005 10 114043569 [T/G] NM_058222 TECTB Silent exm856015 10 114044460 [A/T] NM_058222 TECTB EXON Missense_S82T exm856017 10 114045835 [A/C] NM_058222 TECTB EXON Missense_P92T exm856028 10 114053512 [A/T] NM_058222 TECTB EXON Missense_I167N exm856030 10 114053545 [T/C] NM_058222 TECTB EXON Missense_S178F exm856033 10 114053560 [T/A] NM_058222 TECTB EXON Missense_D183V exm856040 10 114057883 [T/C] NM_058222 TECTB EXON Missense_T243I exm856054 10 114059289 [A/G] NM_058222 TECTB EXON Missense_G292R exm856072 10 114136154 [T/G] NM_203379,NM_203380,NM_016234 ACSL5,ACSL5,ACSL5 EXON Silent,Silent,Missense_E29D exm856073 10 114136191 [T/G] NM_203379,NM_203380,NM_016234 ACSL5,ACSL5,ACSL5 EXON Silent,Silent,Missense_A42S exm856074 10 114136192 [T/C] NM_203379,NM_203380,NM_016234 ACSL5,ACSL5,ACSL5 EXON Silent,Silent,Missense_A42V exm856078 10 114154685 [T/G] NM_203379,NM_203380,NM_016234 ACSL5,ACSL5,ACSL5 EXON Silent,Silent,Missense_F50C exm856085 10 114154788 [C/G] NM_203379,NM_203380,NM_016234 ACSL5,ACSL5,ACSL5 EXON Missense_F28L,Missense_F28L,Missense_F84L exm856088 10 114154823 [A/C] NM_203379,NM_203380,NM_016234 ACSL5,ACSL5,ACSL5 EXON Missense_P40H,Missense_P40H,Missense_P96H exm856091 10 114158732 [T/C] NM_203379,NM_203380,NM_016234 ACSL5,ACSL5,ACSL5 EXON Missense_M77T,Missense_M77T,Missense_M133T exm856099 10 114168208 [T/C] NM_203379,NM_203380,NM_016234 ACSL5,ACSL5,ACSL5 EXON Missense_T154M,Missense_T154M,Missense_T210M exm856107 10 114169276 [A/G] NM_203379,NM_203380,NM_016234 ACSL5,ACSL5,ACSL5 EXON Missense_M182V,Missense_M182V,Missense_M238V exm856124 10 114172983 [A/G] NM_203379,NM_203380,NM_016234 ACSL5,ACSL5,ACSL5 EXON Missense_R334Q,Missense_R334Q,Missense_R390Q exm2216704 10 114176683 [T/C] NM_203379,NM_203380,NM_016234 ACSL5,ACSL5,ACSL5 EXON Missense_L374S,Missense_L374S,Missense_L430S exm856134 10 114177616 [A/G] NM_203379,NM_203380,NM_016234 ACSL5,ACSL5,ACSL5 EXON Missense_G411R,Missense_G411R,Missense_G467R exm856140 10 114181355 [T/A] NM_203379,NM_203380,NM_016234 ACSL5,ACSL5,ACSL5 EXON Missense_Y440F,Missense_Y440F,Missense_Y496F exm856146 10 114181773 [A/G] NM_203379,NM_203380,NM_016234 ACSL5,ACSL5,ACSL5 EXON Missense_T486A,Missense_T486A,Missense_T542A exm856154 10 114185237 [T/C] NM_203379,NM_203380,NM_016234 ACSL5,ACSL5,ACSL5 EXON Missense_R579W,Missense_R579W,Missense_R635W exm1671080 10 114186983 [G/C] NM_203379,NM_203380,NM_016234 ACSL5,ACSL5,ACSL5 EXON Missense_A640G,Missense_A640G,Missense_A696G exm1671081 10 114187066 [A/C] NM_203379,NM_203380,NM_016234 ACSL5,ACSL5,ACSL5 EXON Missense_K668Q,Missense_K668Q,Missense_K724Q exm856177 10 114192242 [A/C] NM_022494 ZDHHC6 EXON Missense_C328F exm856178 10 114192276 [A/G] NM_022494 ZDHHC6 EXON Missense_R317C exm856188 10 114194055 [T/C] NM_022494 ZDHHC6 EXON Synonymous_T301T exm856212 10 114205074 [T/C] NM_022494 ZDHHC6 EXON Missense_D41N exm2274440 10 114220306 [A/G] NM_145206 VTI1A EXON Missense_N40D exm856221 10 114220331 [T/C] NM_145206 VTI1A EXON Missense_A48V exm856223 10 114224379 [A/G] NM_145206 VTI1A EXON Missense_S76N exm1671112 10 114286892 [T/C] NM_145206 VTI1A EXON Missense_L104P exm856232 10 114298033 [A/G] NM_145206 VTI1A EXON Missense_R124K exm856236 10 114298089 [A/G] NM_145206 VTI1A EXON Missense_E143K exm856238 10 114427978 [A/G] NM_145206 VTI1A EXON Synonymous_E143E exm-rs7342028 10 114479262 [T/G] NM_145206 VTI1A Silent exm856277 10 114724358 [T/C] NM_001198525,NM_001198529,NM_001198526,NM_001198527,NM_001146284,NM_001146285,NM_001198530,NM_001146286,NM_001146274,NM_001146283,NM_001198528,NM_030756,NM_001198531 TCF7L2,TCF7L2,TCF7L2,TCF7L2,TCF7L2,TCF7L2,TCF7L2,TCF7L2,TCF7L2,TCF7L2,TCF7L2,TCF7L2,TCF7L2 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_T142M,Silent,Silent,Silent,Missense_T142M exm-rs7901695 10 114754088 [T/C] NM_001198525,NM_001198529,NM_001198526,NM_001198527,NM_001146284,NM_001146285,NM_001198530,NM_001146286,NM_001146274,NM_001146283,NM_001198528,NM_030756,NM_001198531 TCF7L2,TCF7L2,TCF7L2,TCF7L2,TCF7L2,TCF7L2,TCF7L2,TCF7L2,TCF7L2,TCF7L2,TCF7L2,TCF7L2,TCF7L2 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm-rs4506565 10 114756041 [A/T] NM_001198525,NM_001198529,NM_001198526,NM_001198527,NM_001146284,NM_001146285,NM_001198530,NM_001146286,NM_001146274,NM_001146283,NM_001198528,NM_030756,NM_001198531 TCF7L2,TCF7L2,TCF7L2,TCF7L2,TCF7L2,TCF7L2,TCF7L2,TCF7L2,TCF7L2,TCF7L2,TCF7L2,TCF7L2,TCF7L2 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm-rs7903146 10 114758349 [T/C] NM_001198525,NM_001198529,NM_001198526,NM_001198527,NM_001146284,NM_001146285,NM_001198530,NM_001146286,NM_001146274,NM_001146283,NM_001198528,NM_030756,NM_001198531 TCF7L2,TCF7L2,TCF7L2,TCF7L2,TCF7L2,TCF7L2,TCF7L2,TCF7L2,TCF7L2,TCF7L2,TCF7L2,TCF7L2,TCF7L2 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm-rs12243326 10 114788815 [T/C] NM_001198525,NM_001198529,NM_001198526,NM_001198527,NM_001146284,NM_001146285,NM_001198530,NM_001146286,NM_001146274,NM_001146283,NM_001198528,NM_030756,NM_001198531 TCF7L2,TCF7L2,TCF7L2,TCF7L2,TCF7L2,TCF7L2,TCF7L2,TCF7L2,TCF7L2,TCF7L2,TCF7L2,TCF7L2,TCF7L2 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm856283 10 114799880 [A/G] NM_001198525,NM_001198529,NM_001198526,NM_001198527,NM_001146284,NM_001146285,NM_001198530,NM_001146286,NM_001146274,NM_001146283,NM_001198528,NM_030756,NM_001198531 TCF7L2,TCF7L2,TCF7L2,TCF7L2,TCF7L2,TCF7L2,TCF7L2,TCF7L2,TCF7L2,TCF7L2,TCF7L2,TCF7L2,TCF7L2 EXON Missense_I160V,Missense_I160V,Missense_I160V,Missense_I160V,Missense_I160V,Missense_I160V,Silent,Missense_I160V,Missense_I183V,Missense_I160V,Missense_I160V,Missense_I160V,Missense_I183V exm856286 10 114849211 [A/C] NM_001198525,NM_001198529,NM_001198526,NM_001198527,NM_001146284,NM_001146285,NM_001198530,NM_001146286,NM_001146274,NM_001146283,NM_001198528,NM_030756,NM_001198531 TCF7L2,TCF7L2,TCF7L2,TCF7L2,TCF7L2,TCF7L2,TCF7L2,TCF7L2,TCF7L2,TCF7L2,TCF7L2,TCF7L2,TCF7L2 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_P179H,Silent,Silent,Silent exm856288 10 114849271 [A/G] NM_001198525,NM_001198529,NM_001198526,NM_001198527,NM_001146284,NM_001146285,NM_001198530,NM_001146286,NM_001146274,NM_001146283,NM_001198528,NM_030756,NM_001198531 TCF7L2,TCF7L2,TCF7L2,TCF7L2,TCF7L2,TCF7L2,TCF7L2,TCF7L2,TCF7L2,TCF7L2,TCF7L2,TCF7L2,TCF7L2 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_Q199R,Silent,Silent,Silent exm856316 10 114920400 [T/C] NM_001198525,NM_001198529,NM_001198526,NM_001198527,NM_001146284,NM_001146285,NM_001198530,NM_001146286,NM_001146274,NM_001146283,NM_001198528,NM_030756,NM_001198531 TCF7L2,TCF7L2,TCF7L2,TCF7L2,TCF7L2,TCF7L2,TCF7L2,TCF7L2,TCF7L2,TCF7L2,TCF7L2,TCF7L2,TCF7L2 EXON Missense_S471P,Silent,Synonymous_C424C,Silent,Silent,Silent,Silent,Silent,Synonymous_C447C,Silent,Silent,Silent,Silent exm856323 10 114925369 [A/C] NM_001198525,NM_001198529,NM_001198526,NM_001198527,NM_001146284,NM_001146285,NM_001198530,NM_001146286,NM_001146274,NM_001146283,NM_001198528,NM_030756,NM_001198531 TCF7L2,TCF7L2,TCF7L2,TCF7L2,TCF7L2,TCF7L2,TCF7L2,TCF7L2,TCF7L2,TCF7L2,TCF7L2,TCF7L2,TCF7L2 EXON Silent,Missense_H452Q,Missense_P460T,Silent,Missense_H448Q,Missense_P460T,Missense_H401Q,Missense_H435Q,Missense_P483T,Missense_H482Q,Silent,Missense_P477T,Missense_H458Q exm856330 10 114925441 [A/G] NM_001198525,NM_001198529,NM_001198526,NM_001198527,NM_001146284,NM_001146285,NM_001198530,NM_001146286,NM_001146274,NM_001146283,NM_001198528,NM_030756,NM_001198531 TCF7L2,TCF7L2,TCF7L2,TCF7L2,TCF7L2,TCF7L2,TCF7L2,TCF7L2,TCF7L2,TCF7L2,TCF7L2,TCF7L2,TCF7L2 EXON Silent,Silent,Missense_A484T,Silent,Silent,Missense_A484T,Silent,Silent,Missense_A507T,Silent,Silent,Missense_A501T,Silent exm856347 10 114925615 [A/C] NM_001198525,NM_001198529,NM_001198526,NM_001198527,NM_001146284,NM_001146285,NM_001198530,NM_001146286,NM_001146274,NM_001146283,NM_001198528,NM_030756,NM_001198531 TCF7L2,TCF7L2,TCF7L2,TCF7L2,TCF7L2,TCF7L2,TCF7L2,TCF7L2,TCF7L2,TCF7L2,TCF7L2,TCF7L2,TCF7L2 EXON Silent,Silent,Missense_P542T,Silent,Silent,Missense_P542T,Silent,Silent,Missense_P565T,Silent,Silent,Missense_P559T,Silent exm856350 10 114925628 [C/G] NM_001198525,NM_001198529,NM_001198526,NM_001198527,NM_001146284,NM_001146285,NM_001198530,NM_001146286,NM_001146274,NM_001146283,NM_001198528,NM_030756,NM_001198531 TCF7L2,TCF7L2,TCF7L2,TCF7L2,TCF7L2,TCF7L2,TCF7L2,TCF7L2,TCF7L2,TCF7L2,TCF7L2,TCF7L2,TCF7L2 EXON Silent,Silent,Missense_S546C,Silent,Silent,Missense_S546C,Silent,Silent,Missense_S569C,Silent,Silent,Missense_S563C,Silent exm856354 10 114925675 [T/C] NM_001198525,NM_001198529,NM_001198526,NM_001198527,NM_001146284,NM_001146285,NM_001198530,NM_001146286,NM_001146274,NM_001146283,NM_001198528,NM_030756,NM_001198531 TCF7L2,TCF7L2,TCF7L2,TCF7L2,TCF7L2,TCF7L2,TCF7L2,TCF7L2,TCF7L2,TCF7L2,TCF7L2,TCF7L2,TCF7L2 EXON Silent,Silent,Missense_S562P,Silent,Silent,Missense_S562P,Silent,Silent,Missense_S585P,Silent,Silent,Missense_S579P,Silent exm2249046 10 115018340 [T/C] exm856370 10 115327263 [T/G] NM_001177660,NM_004132 HABP2,HABP2 EXON Missense_L3V,Missense_L29V exm856371 10 115327273 [T/G] NM_001177660,NM_004132 HABP2,HABP2 EXON Missense_S6I,Missense_S32I exm856383 10 115335700 [A/G] NM_001177660,NM_004132 HABP2,HABP2 EXON Missense_V64I,Missense_V90I exm856386 10 115336912 [A/G] NM_001177660,NM_004132 HABP2,HABP2 EXON Missense_Q86R,Missense_Q112R exm856388 10 115336941 [T/C] NM_001177660,NM_004132 HABP2,HABP2 EXON Missense_R96W,Missense_R122W exm856392 10 115336964 [G/C] NM_001177660,NM_004132 HABP2,HABP2 EXON Missense_Q103H,Missense_Q129H exm856400 10 115337833 [T/C] NM_001177660,NM_004132 HABP2,HABP2 EXON Missense_S140F,Missense_S166F exm856401 10 115337835 [T/C] NM_001177660,NM_004132 HABP2,HABP2 EXON Missense_R141W,Missense_R167W exm856408 10 115338424 [T/C] NM_001177660,NM_004132 HABP2,HABP2 EXON Nonsense_R177X,Nonsense_R203X exm856414 10 115338523 [A/G] NM_001177660,NM_004132 HABP2,HABP2 EXON Missense_E210K,Missense_E236K exm856423 10 115340416 [A/G] NM_001177660,NM_004132 HABP2,HABP2 EXON Nonsense_W242X,Nonsense_W268X exm856424 10 115340443 [T/C] NM_001177660,NM_004132 HABP2,HABP2 EXON Missense_S251L,Missense_S277L exm856426 10 115341637 [A/G] NM_001177660,NM_004132 HABP2,HABP2 EXON Missense_V255I,Missense_V281I exm856435 10 115341743 [A/G] NM_001177660,NM_004132 HABP2,HABP2 EXON Missense_G290E,Missense_G316E exm856437 10 115341758 [T/C] NM_001177660,NM_004132 HABP2,HABP2 EXON Missense_T295M,Missense_T321M exm856440 10 115341781 [A/G] NM_001177660,NM_004132 HABP2,HABP2 EXON Missense_A303T,Missense_A329T exm856452 10 115343100 [T/G] NM_001177660,NM_004132 HABP2,HABP2 EXON Missense_I381S,Missense_I407S exm2249047 10 115343935 [T/C] NM_001177660,NM_004132 HABP2,HABP2 EXON Synonymous_G396G,Synonymous_G422G exm856456 10 115343937 [T/A] NM_001177660,NM_004132 HABP2,HABP2 EXON Missense_H397L,Missense_H423L exm856462 10 115345558 [C/G] NM_001177660,NM_004132 HABP2,HABP2 EXON Missense_G434A,Missense_G460A exm856463 10 115345563 [T/C] NM_001177660,NM_004132 HABP2,HABP2 EXON Missense_R436C,Missense_R462C exm856471 10 115348000 [A/G] NM_001177660,NM_004132 HABP2,HABP2 EXON Missense_G493S,Missense_G519S exm856475 10 115348046 [A/G] NM_001177660,NM_004132 HABP2,HABP2 EXON Missense_G508E,Missense_G534E exm856477 10 115348082 [T/C] NM_001177660,NM_004132 HABP2,HABP2 EXON Missense_F520S,Missense_F546S exm856484 10 115348749 [G/C] NM_001177660,NM_004132,NM_198060,NM_001261463,NM_006175 HABP2,HABP2,NRAP,NRAP,NRAP EXON Silent,Silent,Missense_K1726N,Missense_K1727N,Missense_K1691N exm856485 10 115348750 [T/G] NM_001177660,NM_004132,NM_198060,NM_001261463,NM_006175 HABP2,HABP2,NRAP,NRAP,NRAP EXON Silent,Silent,Missense_K1726T,Missense_K1727T,Missense_K1691T exm856486 10 115348751 [T/C] NM_001177660,NM_004132,NM_198060,NM_001261463,NM_006175 HABP2,HABP2,NRAP,NRAP,NRAP EXON Silent,Silent,Missense_K1726E,Missense_K1727E,Missense_K1691E exm856491 10 115349424 [T/C] NM_198060,NM_001261463,NM_006175 NRAP,NRAP,NRAP Silent,Silent,Silent exm856494 10 115349462 [T/A] NM_198060,NM_001261463,NM_006175 NRAP,NRAP,NRAP EXON Missense_L1684Q,Missense_L1684Q,Missense_L1649Q exm856499 10 115349475 [A/G] NM_198060,NM_001261463,NM_006175 NRAP,NRAP,NRAP EXON Missense_R1680W,Missense_R1680W,Missense_R1645W exm856504 10 115350366 [A/C] NM_198060,NM_001261463,NM_006175 NRAP,NRAP,NRAP EXON Missense_A1643S,Missense_A1643S,Missense_A1608S exm856516 10 115350588 [T/C] NM_198060,NM_001261463,NM_006175 NRAP,NRAP,NRAP EXON Missense_D1569N,Missense_D1569N,Missense_D1534N exm856518 10 115350594 [T/C] NM_198060,NM_001261463,NM_006175 NRAP,NRAP,NRAP EXON Missense_S1567G,Missense_S1567G,Missense_S1532G exm856520 10 115350596 [T/C] NM_198060,NM_001261463,NM_006175 NRAP,NRAP,NRAP EXON Missense_R1566H,Missense_R1566H,Missense_R1531H exm856521 10 115350597 [A/G] NM_198060,NM_001261463,NM_006175 NRAP,NRAP,NRAP EXON Missense_R1566C,Missense_R1566C,Missense_R1531C exm856528 10 115350645 [A/G] NM_198060,NM_001261463,NM_006175 NRAP,NRAP,NRAP EXON Missense_R1550W,Missense_R1550W,Missense_R1515W exm856532 10 115352005 [A/G] NM_198060,NM_001261463,NM_006175 NRAP,NRAP,NRAP EXON Missense_L1531P,Missense_L1531P,Missense_L1496P exm856536 10 115355382 [A/G] NM_198060,NM_001261463,NM_006175 NRAP,NRAP,NRAP EXON Synonymous_D1512D,Synonymous_D1512D,Synonymous_D1477D exm856540 10 115355429 [C/G] NM_198060,NM_001261463,NM_006175 NRAP,NRAP,NRAP EXON Missense_H1497D,Missense_H1497D,Missense_H1462D exm856541 10 115355485 [T/C] NM_198060,NM_001261463,NM_006175 NRAP,NRAP,NRAP EXON Missense_R1478H,Missense_R1478H,Missense_R1443H exm856547 10 115357730 [T/C] NM_198060,NM_001261463,NM_006175 NRAP,NRAP,NRAP EXON Missense_E1444K,Missense_E1444K,Missense_E1409K exm2249048 10 115357809 [A/G] NM_198060,NM_001261463,NM_006175 NRAP,NRAP,NRAP EXON Synonymous_I1417I,Synonymous_I1417I,Synonymous_I1382I exm856559 10 115364568 [T/C] NM_198060,NM_001261463,NM_006175 NRAP,NRAP,NRAP EXON Missense_E1343K,Missense_E1343K,Missense_E1308K exm2276130 10 115364584 [G/C] NM_198060,NM_001261463,NM_006175 NRAP,NRAP,NRAP EXON Missense_M1337I,Missense_M1337I,Missense_M1302I exm856560 10 115364585 [A/G] NM_198060,NM_001261463,NM_006175 NRAP,NRAP,NRAP EXON Missense_M1337T,Missense_M1337T,Missense_M1302T exm856568 10 115365521 [A/G] NM_198060,NM_001261463,NM_006175 NRAP,NRAP,NRAP EXON Synonymous_D1305D,Synonymous_D1305D,Synonymous_D1270D exm856571 10 115365589 [T/C] NM_198060,NM_001261463,NM_006175 NRAP,NRAP,NRAP EXON Missense_G1283S,Missense_G1283S,Missense_G1248S exm856574 10 115365628 [T/C] NM_198060,NM_001261463,NM_006175 NRAP,NRAP,NRAP EXON Missense_A1270T,Missense_A1270T,Missense_A1235T exm1671285 10 115366006 [T/G] NM_198060,NM_001261463,NM_006175 NRAP,NRAP,NRAP EXON Missense_H1246Q,Missense_H1246Q,Missense_H1211Q exm856577 10 115366016 [A/T] NM_198060,NM_001261463,NM_006175 NRAP,NRAP,NRAP EXON Missense_D1243V,Missense_D1243V,Missense_D1208V exm2216712 10 115368216 [A/G] NM_198060,NM_001261463,NM_006175 NRAP,NRAP,NRAP EXON Missense_P1220L,Missense_P1220L,Missense_P1185L exm856586 10 115370274 [T/C] NM_198060,NM_001261463,NM_006175 NRAP,NRAP,NRAP EXON Missense_I1183V,Missense_I1183V,Missense_I1148V exm856596 10 115372156 [A/G] NM_198060,NM_001261463,NM_006175 NRAP,NRAP,NRAP EXON Missense_A1112V,Missense_A1112V,Missense_A1077V exm856597 10 115372177 [T/C] NM_198060,NM_001261463,NM_006175 NRAP,NRAP,NRAP EXON Missense_K1105R,Missense_K1105R,Missense_K1070R exm856598 10 115372191 [T/C] NM_198060,NM_001261463,NM_006175 NRAP,NRAP,NRAP Silent,Silent,Silent exm856605 10 115374003 [T/C] NM_198060,NM_001261463,NM_006175 NRAP,NRAP,NRAP EXON Missense_R1080Q,Missense_R1080Q,Missense_R1045Q exm1671297 10 115374006 [A/G] NM_198060,NM_001261463,NM_006175 NRAP,NRAP,NRAP EXON Missense_S1079F,Missense_S1079F,Missense_S1044F exm856607 10 115374035 [T/A] NM_198060,NM_001261463,NM_006175 NRAP,NRAP,NRAP EXON Missense_F1069L,Missense_F1069L,Missense_F1034L exm856609 10 115374606 [T/C] NM_198060,NM_001261463,NM_006175 NRAP,NRAP,NRAP EXON Missense_I1060V,Missense_I1060V,Missense_I1025V exm856610 10 115374621 [T/C] NM_198060,NM_001261463,NM_006175 NRAP,NRAP,NRAP EXON Missense_A1055T,Missense_A1055T,Missense_A1020T exm856614 10 115374701 [T/C] NM_198060,NM_001261463,NM_006175 NRAP,NRAP,NRAP EXON Missense_R1028H,Missense_R1028H,Missense_R993H exm856616 10 115374704 [A/G] NM_198060,NM_001261463,NM_006175 NRAP,NRAP,NRAP EXON Missense_T1027M,Missense_T1027M,Missense_T992M exm856618 10 115375485 [T/C] NM_198060,NM_001261463,NM_006175 NRAP,NRAP,NRAP EXON Missense_M1022V,Missense_M1022V,Missense_M987V exm856622 10 115375542 [A/G] NM_198060,NM_001261463,NM_006175 NRAP,NRAP,NRAP EXON Missense_H1003Y,Missense_H1003Y,Missense_H968Y exm856625 10 115377224 [T/G] NM_198060,NM_001261463,NM_006175 NRAP,NRAP,NRAP EXON Missense_Q988P,Missense_Q988P,Missense_Q953P exm856628 10 115377258 [A/G] NM_198060,NM_001261463,NM_006175 NRAP,NRAP,NRAP EXON Missense_P977S,Missense_P977S,Missense_P942S exm856629 10 115377290 [T/C] NM_198060,NM_001261463,NM_006175 NRAP,NRAP,NRAP EXON Missense_D966G,Missense_D966G,Missense_D931G exm2276966 10 115380427 [T/C] NM_198060,NM_001261463,NM_006175 NRAP,NRAP,NRAP EXON Missense_G937D,Missense_G937D,Missense_G902D exm856639 10 115380430 [T/A] NM_198060,NM_001261463,NM_006175 NRAP,NRAP,NRAP EXON Missense_M936K,Missense_M936K,Missense_M901K exm856643 10 115381648 [T/C] NM_198060,NM_001261463,NM_006175 NRAP,NRAP,NRAP EXON Missense_A917T,Missense_A917T,Missense_A882T exm856651 10 115381747 [A/G] NM_198060,NM_001261463,NM_006175 NRAP,NRAP,NRAP EXON Missense_R884C,Missense_R884C,Missense_R849C exm2274441 10 115381756 [T/C] NM_198060,NM_001261463,NM_006175 NRAP,NRAP,NRAP EXON Missense_V881M,Missense_V881M,Missense_V846M exm856657 10 115381804 [T/C] NM_198060,NM_001261463,NM_006175 NRAP,NRAP,NRAP EXON Missense_E865K,Missense_E865K,Missense_E830K exm856661 10 115381896 [A/G] NM_198060,NM_001261463,NM_006175 NRAP,NRAP,NRAP EXON Missense_I834T,Missense_I834T,Missense_I799T exm856663 10 115383290 [T/C] NM_198060,NM_001261463,NM_006175 NRAP,NRAP,NRAP EXON Missense_E819K,Missense_E819K,Missense_E784K exm856665 10 115383304 [T/C] NM_198060,NM_001261463,NM_006175 NRAP,NRAP,NRAP EXON Missense_R814K,Missense_R814K,Missense_R779K exm856668 10 115383328 [G/C] NM_198060,NM_001261463,NM_006175 NRAP,NRAP,NRAP EXON Missense_T806S,Missense_T806S,Missense_T771S exm856672 10 115383343 [T/C] NM_198060,NM_001261463,NM_006175 NRAP,NRAP,NRAP EXON Missense_R801H,Missense_R801H,Missense_R766H exm856674 10 115384610 [T/C] NM_198060,NM_001261463,NM_006175 NRAP,NRAP,NRAP EXON Missense_R775Q,Missense_R775Q,Missense_R740Q exm856678 10 115385808 [T/C] NM_198060,NM_001261463,NM_006175 NRAP,NRAP,NRAP EXON Missense_G748R,Missense_G748R,Missense_G713R exm856699 10 115389366 [A/G] NM_198060,NM_001261463,NM_006175 NRAP,NRAP,NRAP EXON Missense_A674V,Missense_A674V,Missense_A639V exm856700 10 115389367 [A/C] NM_198060,NM_001261463,NM_006175 NRAP,NRAP,NRAP EXON Missense_A674S,Missense_A674S,Missense_A639S exm1671328 10 115389448 [A/C] NM_198060,NM_001261463,NM_006175 NRAP,NRAP,NRAP EXON Missense_A647S,Missense_A647S,Missense_A612S exm856703 10 115389508 [C/G] NM_198060,NM_001261463,NM_006175 NRAP,NRAP,NRAP EXON Missense_R627G,Missense_R627G,Missense_R592G exm856710 10 115391368 [A/G] NM_198060,NM_001261463,NM_006175 NRAP,NRAP,NRAP EXON Missense_I581T,Missense_I581T,Missense_I546T exm856713 10 115391645 [T/C] NM_198060,NM_001261463,NM_006175 NRAP,NRAP,NRAP EXON Missense_A571T,Missense_A571T,Missense_A536T exm856720 10 115392919 [T/A] NM_198060,NM_001261463,NM_006175 NRAP,NRAP,NRAP EXON Missense_N519I,Missense_N519I,Missense_N484I exm856724 10 115393929 [A/G] NM_198060,NM_001261463,NM_006175 NRAP,NRAP,NRAP EXON Missense_S490L,Missense_S490L,Missense_S455L exm856725 10 115393948 [T/C] NM_198060,NM_001261463,NM_006175 NRAP,NRAP,NRAP EXON Missense_D484N,Missense_D484N,Missense_D449N exm856729 10 115400044 [T/G] NM_198060,NM_001261463,NM_006175 NRAP,NRAP,NRAP EXON Missense_Y457S,Missense_Y457S,Missense_Y422S exm856740 10 115401182 [T/C] NM_198060,NM_001261463,NM_006175 NRAP,NRAP,NRAP EXON Missense_G422E,Missense_G422E,Missense_G387E exm856747 10 115405604 [T/C] NM_198060,NM_001261463,NM_006175 NRAP,NRAP,NRAP EXON Missense_V364I,Missense_V364I,Missense_V364I exm856748 10 115405615 [T/C] NM_198060,NM_001261463,NM_006175 NRAP,NRAP,NRAP EXON Missense_Q360R,Missense_Q360R,Missense_Q360R exm856749 10 115405648 [A/G] NM_198060,NM_001261463,NM_006175 NRAP,NRAP,NRAP EXON Missense_S349L,Missense_S349L,Missense_S349L exm856759 10 115406682 [A/G] NM_198060,NM_001261463,NM_006175 NRAP,NRAP,NRAP EXON Synonymous_D331D,Synonymous_D331D,Synonymous_D331D exm856765 10 115406779 [A/G] NM_198060,NM_001261463,NM_006175 NRAP,NRAP,NRAP EXON Missense_P299L,Missense_P299L,Missense_P299L exm856767 10 115409840 [T/C] NM_198060,NM_001261463,NM_006175 NRAP,NRAP,NRAP EXON Missense_A282T,Missense_A282T,Missense_A282T exm856770 10 115410197 [T/A] NM_198060,NM_001261463,NM_006175 NRAP,NRAP,NRAP EXON Missense_D261E,Missense_D261E,Missense_D261E exm856771 10 115410234 [T/C] NM_198060,NM_001261463,NM_006175 NRAP,NRAP,NRAP EXON Missense_Y249C,Missense_Y249C,Missense_Y249C exm856778 10 115411594 [A/G] NM_198060,NM_001261463,NM_006175 NRAP,NRAP,NRAP EXON Missense_R215W,Missense_R215W,Missense_R215W exm856781 10 115411614 [A/G] NM_198060,NM_001261463,NM_006175 NRAP,NRAP,NRAP EXON Missense_V208A,Missense_V208A,Missense_V208A exm856787 10 115412708 [C/G] NM_198060,NM_001261463,NM_006175 NRAP,NRAP,NRAP EXON Missense_Q186E,Missense_Q186E,Missense_Q186E exm856791 10 115412757 [T/G] NM_198060,NM_001261463,NM_006175 NRAP,NRAP,NRAP EXON Missense_S169R,Missense_S169R,Missense_S169R exm1671364 10 115412785 [T/G] NM_198060,NM_001261463,NM_006175 NRAP,NRAP,NRAP EXON Missense_D160A,Missense_D160A,Missense_D160A exm856803 10 115417228 [T/C] NM_198060,NM_001261463,NM_006175 NRAP,NRAP,NRAP Silent,Silent,Silent exm2276131 10 115422442 [A/C] NM_198060,NM_001261463,NM_006175 NRAP,NRAP,NRAP EXON Missense_S84I,Missense_S84I,Missense_S84I exm856811 10 115422448 [A/G] NM_198060,NM_001261463,NM_006175 NRAP,NRAP,NRAP EXON Missense_A82V,Missense_A82V,Missense_A82V exm1671380 10 115423141 [A/C] NM_198060,NM_001261463,NM_006175 NRAP,NRAP,NRAP EXON Missense_V46G,Missense_V46G,Missense_V46G exm1671381 10 115423142 [A/C] NM_198060,NM_001261463,NM_006175 NRAP,NRAP,NRAP EXON Missense_V46L,Missense_V46L,Missense_V46L exm856819 10 115423570 [G/C] NM_198060,NM_001261463,NM_006175 NRAP,NRAP,NRAP EXON Missense_Q24H,Missense_Q24H,Missense_Q24H exm1671396 10 115451818 [T/G] NM_033340,NM_001267056,NM_033339,NM_001267057,NM_033338,NM_001227 CASP7,CASP7,CASP7,CASP7,CASP7,CASP7 EXON Silent,Silent,Silent,Silent,Missense_Y30D,Silent exm856833 10 115457264 [T/G] NM_033340,NM_001267056,NM_033339,NM_001267057,NM_033338,NM_001227 CASP7,CASP7,CASP7,CASP7,CASP7,CASP7 EXON Missense_D4E,Missense_D4E,Missense_D4E,Missense_I79S,Missense_D37E,Missense_D4E exm856834 10 115457287 [A/G] NM_033340,NM_001267056,NM_033339,NM_001267057,NM_033338,NM_001227 CASP7,CASP7,CASP7,CASP7,CASP7,CASP7 EXON Missense_G12E,Missense_G12E,Missense_G12E,Missense_G87R,Missense_G45E,Missense_G12E exm856846 10 115481418 [A/G] NM_033340,NM_001267056,NM_033339,NM_001267057,NM_033338,NM_001227,NM_001267058 CASP7,CASP7,CASP7,CASP7,CASP7,CASP7,CASP7 EXON Missense_V86I,Missense_V86I,Missense_V86I,Missense_V171I,Missense_V119I,Missense_V86I,Missense_V61I exm856849 10 115481467 [A/G] NM_033340,NM_001267056,NM_033339,NM_001267057,NM_033338,NM_001227,NM_001267058 CASP7,CASP7,CASP7,CASP7,CASP7,CASP7,CASP7 EXON Missense_R102Q,Missense_R102Q,Missense_R102Q,Missense_R187Q,Missense_R135Q,Missense_R102Q,Missense_R77Q exm856861 10 115485256 [C/G] NM_033340,NM_001267056,NM_033339,NM_001267057,NM_033338,NM_001227,NM_001267058 CASP7,CASP7,CASP7,CASP7,CASP7,CASP7,CASP7 EXON Silent,Missense_C171S,Missense_C171S,Missense_C256S,Missense_C204S,Missense_C171S,Missense_C146S exm856864 10 115485285 [T/C] NM_033340,NM_001267056,NM_033339,NM_001267057,NM_033338,NM_001227,NM_001267058 CASP7,CASP7,CASP7,CASP7,CASP7,CASP7,CASP7 EXON Silent,Missense_F181L,Missense_F181L,Missense_F266L,Missense_F214L,Missense_F181L,Missense_F156L exm856875 10 115486179 [A/G] NM_033340,NM_001267056,NM_033339,NM_001267057,NM_033338,NM_001227,NM_001267058 CASP7,CASP7,CASP7,CASP7,CASP7,CASP7,CASP7 EXON Missense_I212V,Missense_Y223C,Missense_Y223C,Missense_Y308C,Missense_Y256C,Missense_Y223C,Missense_Y198C exm856877 10 115486191 [T/C] NM_033340,NM_001267056,NM_033339,NM_001267057,NM_033338,NM_001227,NM_001267058 CASP7,CASP7,CASP7,CASP7,CASP7,CASP7,CASP7 EXON Nonsense_Q216X,Missense_P227L,Missense_P227L,Missense_P312L,Missense_P260L,Missense_P227L,Missense_P202L exm856878 10 115489080 [A/G] NM_033340,NM_001267056,NM_033339,NM_001267057,NM_033338,NM_001227,NM_001267058 CASP7,CASP7,CASP7,CASP7,CASP7,CASP7,CASP7 EXON Missense_R220H,Synonymous_S231S,Synonymous_S231S,Synonymous_S316S,Synonymous_S264S,Synonymous_S231S,Synonymous_S206S exm856879 10 115489087 [A/C] NM_033340,NM_001267056,NM_033339,NM_001267057,NM_033338,NM_001227,NM_001267058 CASP7,CASP7,CASP7,CASP7,CASP7,CASP7,CASP7 EXON Synonymous_G222G,Missense_S234R,Missense_S234R,Missense_S319R,Missense_S267R,Missense_S234R,Missense_S209R exm856881 10 115489152 [C/G] NM_033340,NM_001267056,NM_033339,NM_001267057,NM_033338,NM_001227,NM_001267058 CASP7,CASP7,CASP7,CASP7,CASP7,CASP7,CASP7 EXON Missense_T244S,Missense_D255E,Missense_D255E,Missense_D340E,Missense_D288E,Missense_D255E,Missense_D230E exm856883 10 115489177 [A/G] NM_033340,NM_001267056,NM_033339,NM_001267057,NM_033338,NM_001227,NM_001267058 CASP7,CASP7,CASP7,CASP7,CASP7,CASP7,CASP7 EXON Synonymous_P252P,Missense_R264G,Missense_R264G,Missense_R349G,Missense_R297G,Missense_R264G,Missense_R239G exm1671422 10 115489296 [A/G] NM_033340,NM_001267056,NM_033339,NM_001267057,NM_033338,NM_001227,NM_001267058 CASP7,CASP7,CASP7,CASP7,CASP7,CASP7,CASP7 EXON Silent,Synonymous_Q303Q,Synonymous_Q303Q,Synonymous_Q388Q,Synonymous_Q336Q,Synonymous_Q303Q,Synonymous_Q278Q exm856902 10 115527229 [A/G] NM_001193434,NM_001193435,NM_024889,NM_182601 PLEKHS1,PLEKHS1,PLEKHS1,PLEKHS1 EXON Missense_G29D,Missense_G29D,Missense_G117D,Missense_G111D exm856904 10 115527234 [A/G] NM_001193434,NM_001193435,NM_024889,NM_182601 PLEKHS1,PLEKHS1,PLEKHS1,PLEKHS1 EXON Missense_D31N,Missense_D31N,Missense_D119N,Missense_D113N exm856909 10 115528602 [T/A] NM_001193434,NM_001193435,NM_024889,NM_182601 PLEKHS1,PLEKHS1,PLEKHS1,PLEKHS1 EXON Missense_M42L,Missense_M42L,Missense_M130L,Missense_M124L exm856912 10 115528615 [A/G] NM_001193434,NM_001193435,NM_024889,NM_182601 PLEKHS1,PLEKHS1,PLEKHS1,PLEKHS1 EXON Missense_R46H,Missense_R46H,Missense_R134H,Missense_R128H exm1671439 10 115529558 [G/C] NM_001193434,NM_001193435,NM_024889,NM_182601 PLEKHS1,PLEKHS1,PLEKHS1,PLEKHS1 EXON Missense_G63R,Missense_G63R,Missense_G151R,Missense_G145R exm856919 10 115529576 [T/A] NM_001193434,NM_001193435,NM_024889,NM_182601 PLEKHS1,PLEKHS1,PLEKHS1,PLEKHS1 EXON Missense_F69I,Missense_F69I,Missense_F157I,Missense_F151I exm2216718 10 115534688 [T/G] NM_001193434,NM_001193435,NM_024889,NM_182601 PLEKHS1,PLEKHS1,PLEKHS1,PLEKHS1 EXON Missense_S207A,Missense_S207A,Missense_S295A,Missense_S289A exm856936 10 115535561 [A/G] NM_001193434,NM_001193435,NM_024889,NM_182601 PLEKHS1,PLEKHS1,PLEKHS1,PLEKHS1 EXON Missense_V241I,Missense_V241I,Missense_V343I,Missense_V323I exm856939 10 115535618 [T/C] NM_001193434,NM_001193435,NM_024889,NM_182601 PLEKHS1,PLEKHS1,PLEKHS1,PLEKHS1 EXON Missense_R260W,Missense_R260W,Missense_R362W,Missense_R342W exm856946 10 115537008 [T/C] NM_001193434,NM_001193435,NM_024889,NM_182601 PLEKHS1,PLEKHS1,PLEKHS1,PLEKHS1 EXON Missense_I304T,Missense_I304T,Silent,Missense_I386T exm856962 10 115594990 [G/C] NM_014881,NM_001271816 DCLRE1A,DCLRE1A EXON Missense_T1015S,Missense_T1015S exm856963 10 115595030 [A/G] NM_014881,NM_001271816 DCLRE1A,DCLRE1A EXON Missense_R1002C,Missense_R1002C exm856971 10 115601218 [T/C] NM_014881,NM_001271816 DCLRE1A,DCLRE1A EXON Missense_D923N,Missense_D923N exm856977 10 115602125 [A/G] NM_014881,NM_001271816 DCLRE1A,DCLRE1A EXON Missense_I881T,Missense_I881T exm856980 10 115602192 [A/T] NM_014881,NM_001271816 DCLRE1A,DCLRE1A EXON Missense_I859F,Missense_I859F exm856984 10 115603899 [A/G] NM_014881,NM_001271816 DCLRE1A,DCLRE1A EXON Missense_A828V,Missense_A828V exm856988 10 115605531 [T/C] NM_014881,NM_001271816 DCLRE1A,DCLRE1A EXON Missense_H764R,Missense_H764R exm856989 10 115605562 [T/G] NM_014881,NM_001271816 DCLRE1A,DCLRE1A EXON Missense_I754L,Missense_I754L exm857005 10 115608997 [A/G] NM_014881,NM_001271816 DCLRE1A,DCLRE1A EXON Missense_S623P,Missense_S623P exm857011 10 115609269 [A/G] NM_014881,NM_001271816 DCLRE1A,DCLRE1A EXON Missense_P532L,Missense_P532L exm857015 10 115609440 [T/C] NM_014881,NM_001271816 DCLRE1A,DCLRE1A EXON Missense_G475E,Missense_G475E exm857026 10 115609761 [T/C] NM_014881,NM_001271816 DCLRE1A,DCLRE1A EXON Missense_R368Q,Missense_R368Q exm857028 10 115609794 [T/C] NM_014881,NM_001271816 DCLRE1A,DCLRE1A EXON Missense_E357G,Missense_E357G exm857034 10 115609915 [C/G] NM_014881,NM_001271816 DCLRE1A,DCLRE1A EXON Missense_D317H,Missense_D317H exm857039 10 115610004 [A/G] NM_014881,NM_001271816 DCLRE1A,DCLRE1A EXON Missense_P287L,Missense_P287L exm857041 10 115610043 [C/G] NM_014881,NM_001271816 DCLRE1A,DCLRE1A EXON Missense_A274G,Missense_A274G exm857049 10 115610226 [T/C] NM_014881,NM_001271816 DCLRE1A,DCLRE1A EXON Nonsense_W213X,Nonsense_W213X exm857054 10 115610259 [T/A] NM_014881,NM_001271816 DCLRE1A,DCLRE1A EXON Missense_K202M,Missense_K202M exm857058 10 115612529 [A/C] NM_014881,NM_001271816 DCLRE1A,DCLRE1A EXON Missense_R138L,Missense_R138L exm857059 10 115612530 [A/G] NM_014881,NM_001271816 DCLRE1A,DCLRE1A EXON Nonsense_R138X,Nonsense_R138X exm857063 10 115612616 [T/C] NM_014881,NM_001271816 DCLRE1A,DCLRE1A EXON Missense_H109R,Missense_H109R exm857065 10 115612667 [T/C] NM_014881,NM_001271816 DCLRE1A,DCLRE1A EXON Missense_Q92R,Missense_Q92R exm857066 10 115612695 [T/G] NM_014881,NM_001271816 DCLRE1A,DCLRE1A EXON Missense_S83R,Missense_S83R exm857068 10 115612730 [T/C] NM_014881,NM_001271816 DCLRE1A,DCLRE1A EXON Missense_G71D,Missense_G71D exm857072 10 115612765 [G/C] NM_014881,NM_001271816 DCLRE1A,DCLRE1A EXON Missense_E59D,Missense_E59D exm857073 10 115612770 [T/C] NM_014881,NM_001271816 DCLRE1A,DCLRE1A EXON Missense_K58E,Missense_K58E exm857083 10 115614750 [A/G] NM_198514 NHLRC2 EXON Missense_Q40R exm2216722 10 115618371 [A/G] NM_198514 NHLRC2 EXON Missense_Y88C exm1671490 10 115618430 [T/C] NM_198514 NHLRC2 EXON Missense_S108P exm857095 10 115636390 [T/G] NM_198514 NHLRC2 EXON Missense_D148Y exm857098 10 115636544 [A/G] NM_198514 NHLRC2 EXON Missense_K199R exm2249049 10 115636725 [T/C] NM_198514 NHLRC2 EXON Synonymous_Y259Y exm857103 10 115639395 [T/G] NM_198514 NHLRC2 EXON Missense_V284L exm857104 10 115639398 [A/G] NM_198514 NHLRC2 EXON Missense_A285T exm857109 10 115644040 [A/G] NM_198514 NHLRC2 EXON Missense_V314I exm857114 10 115661432 [A/T] NM_198514 NHLRC2 EXON Missense_T383S exm857116 10 115661495 [T/C] NM_198514 NHLRC2 EXON Missense_P404S exm857123 10 115661643 [A/G] NM_198514 NHLRC2 EXON Missense_E453G exm857125 10 115662243 [T/C] NM_198514 NHLRC2 EXON Missense_F462S exm857126 10 115662270 [A/G] NM_198514 NHLRC2 EXON Missense_N471S exm857137 10 115663475 [A/G] NM_198514 NHLRC2 EXON Missense_E562K exm857140 10 115664622 [T/C] NM_198514 NHLRC2 EXON Missense_L584P exm857143 10 115664694 [T/C] NM_198514 NHLRC2 EXON Missense_A608V exm857147 10 115668077 [G/C] NM_198514 NHLRC2 EXON Missense_D655H exm857149 10 115668149 [A/G] NM_198514 NHLRC2 EXON Missense_I679V exm2271356 10 115719765 [T/C] exm-rs7076938 10 115789375 [T/C] exm857160 10 115804036 [A/G] NM_000684 ADRB1 EXON Missense_S49G exm857173 10 115804281 [A/C] NM_000684 ADRB1 EXON Missense_F130L exm857174 10 115804325 [T/G] NM_000684 ADRB1 EXON Missense_S145I exm857186 10 115804699 [A/G] NM_000684 ADRB1 EXON Missense_A270T exm857199 10 115805036 [A/G] NM_000684 ADRB1 EXON Missense_D382G exm857200 10 115805056 [G/C] NM_000684 ADRB1 EXON Missense_G389R exm857208 10 115884927 [A/C] NM_018017 C10orf118 EXON Missense_L891R exm857216 10 115885779 [A/G] NM_018017 C10orf118 EXON Missense_R827W exm2216724 10 115887302 [T/C] NM_018017 C10orf118 EXON Missense_A771T exm857240 10 115891780 [T/C] NM_018017 C10orf118 EXON Missense_N607D exm857252 10 115894702 [A/G] NM_018017 C10orf118 EXON Missense_T542I exm2216725 10 115904356 [A/T] NM_018017 C10orf118 EXON Missense_L374H exm2216726 10 115904367 [T/G] NM_018017 C10orf118 EXON Missense_E370D exm857280 10 115910928 [T/G] NM_018017 C10orf118 EXON Missense_Q271K exm2216727 10 115910970 [T/C] NM_018017 C10orf118 EXON Missense_R257G exm857287 10 115922492 [T/C] NM_018017 C10orf118 EXON Missense_R179Q exm857288 10 115922495 [T/C] NM_018017 C10orf118 EXON Missense_H178R exm857293 10 115922582 [A/G] NM_018017 C10orf118 EXON Missense_F149S exm857295 10 115922607 [A/G] NM_018017 C10orf118 EXON Missense_Y141H exm857296 10 115922612 [T/C] NM_018017 C10orf118 EXON Missense_S139N exm857302 10 115922774 [A/G] NM_018017 C10orf118 EXON Missense_T85I exm857307 10 115922933 [A/C] NM_018017 C10orf118 EXON Missense_G32V exm857316 10 115947604 [T/C] NM_198795 TDRD1 EXON Missense_S5L exm857327 10 115947838 [A/G] NM_198795 TDRD1 EXON Missense_N83S exm857328 10 115947862 [T/G] NM_198795 TDRD1 EXON Missense_G91V exm857330 10 115947871 [A/G] NM_198795 TDRD1 EXON Missense_G94E exm857339 10 115958951 [A/G] NM_198795 TDRD1 EXON Missense_R135H exm857341 10 115959023 [T/C] NM_198795 TDRD1 EXON Missense_T159I exm857342 10 115959034 [C/G] NM_198795 TDRD1 EXON Missense_P163A exm857351 10 115962867 [A/G] NM_198795 TDRD1 EXON Missense_I245V exm857355 10 115963151 [T/C] NM_198795 TDRD1 EXON Missense_T269M exm857359 10 115963252 [T/A] NM_198795 TDRD1 EXON Missense_Y303N exm857360 10 115963277 [A/G] NM_198795 TDRD1 EXON Missense_Y311C exm857368 10 115963875 [A/G] NM_198795 TDRD1 EXON Missense_K342R exm857369 10 115963880 [A/G] NM_198795 TDRD1 EXON Missense_A344T exm857387 10 115966020 [A/G] NM_198795 TDRD1 EXON Missense_V439M exm857391 10 115970412 [A/G] NM_198795 TDRD1 EXON Missense_K486R exm857394 10 115970507 [G/C] NM_198795 TDRD1 EXON Missense_R518G exm857397 10 115970675 [T/C] NM_198795 TDRD1 EXON Missense_R537C exm857398 10 115970676 [T/G] NM_198795 TDRD1 EXON Missense_R537L exm857402 10 115973107 [A/G] NM_198795 TDRD1 EXON Missense_V612I exm857404 10 115973157 [A/C] NM_198795 TDRD1 EXON Missense_K628N exm857418 10 115973813 [A/G] NM_198795 TDRD1 EXON Missense_V718I exm857419 10 115973819 [A/G] NM_198795 TDRD1 EXON Missense_V720I exm857430 10 115980422 [C/G] NM_198795 TDRD1 EXON Missense_V864L exm857445 10 115986852 [A/G] NM_198795 TDRD1 EXON Missense_S1066N exm857449 10 115986987 [T/C] NM_198795 TDRD1 EXON Missense_V1111A exm857451 10 115987678 [A/G] NM_198795 TDRD1 EXON Missense_Y1138C exm857454 10 115987802 [T/A] NM_198795 TDRD1 EXON Missense_E1152D exm857463 10 116008464 [T/A] NM_001272046 VWA2 EXON Silent exm857467 10 116008497 [A/G] NM_001272046 VWA2 EXON Missense_A9T exm857470 10 116008504 [G/C] NM_001272046 VWA2 EXON Missense_C11S exm857477 10 116014740 [A/G] NM_001272046 VWA2 EXON Missense_G65E exm857478 10 116014752 [T/G] NM_001272046 VWA2 EXON Missense_R69M exm857479 10 116014769 [T/A] NM_001272046 VWA2 EXON Missense_I75F exm857483 10 116020957 [A/G] NM_001272046 VWA2 EXON Missense_A92T exm857492 10 116032519 [A/G] NM_001272046 VWA2 EXON Missense_E131G exm857495 10 116032575 [A/G] NM_001272046 VWA2 EXON Missense_V150M exm857510 10 116037797 [A/G] NM_001272046 VWA2 EXON Missense_A231T exm857523 10 116038565 [T/C] NM_001272046 VWA2 EXON Missense_S263L exm857526 10 116038571 [A/G] NM_001272046 VWA2 EXON Missense_R265Q exm857542 10 116045755 [T/C] NM_001272046 VWA2 EXON Missense_A352V exm857548 10 116045796 [A/G] NM_001272046 VWA2 EXON Missense_V366M exm1671663 10 116045833 [C/G] NM_001272046 VWA2 EXON Missense_S378C exm857558 10 116045946 [T/C] NM_001272046 VWA2 EXON Missense_R416C exm857563 10 116045959 [A/C] NM_001272046 VWA2 EXON Missense_T420N exm857568 10 116045989 [T/C] NM_001272046 VWA2 EXON Missense_A430V exm857571 10 116046036 [T/C] NM_001272046 VWA2 EXON Missense_R446C exm857572 10 116046066 [T/C] NM_001272046 VWA2 EXON Missense_H456Y exm857575 10 116046097 [T/G] NM_001272046 VWA2 EXON Missense_R466L exm857582 10 116046186 [T/C] NM_001272046 VWA2 EXON Missense_H496Y exm857593 10 116048834 [T/G] NM_001272046 VWA2 EXON Missense_V570F exm857596 10 116048876 [C/G] NM_001272046 VWA2 EXON Missense_G584R exm857598 10 116048897 [T/C] NM_001272046 VWA2 EXON Missense_R591W exm857610 10 116049050 [A/G] NM_001272046 VWA2 EXON Missense_G642R exm857611 10 116049054 [T/G] NM_001272046 VWA2 EXON Missense_R643I exm857613 10 116049059 [A/G] NM_001272046 VWA2 EXON Missense_A645T exm857619 10 116049152 [T/C] NM_001272046 VWA2 EXON Missense_R676W exm857620 10 116049153 [A/G] NM_001272046 VWA2 EXON Missense_R676Q exm857621 10 116049170 [T/C] NM_001272046 VWA2 EXON Missense_R682W exm857630 10 116049297 [T/C] NM_001272046 VWA2 Silent exm857648 10 116056852 [A/G] NM_032550,NM_001001936 AFAP1L2,AFAP1L2 EXON Missense_A768V,Missense_A772V exm857649 10 116056978 [T/C] NM_032550,NM_001001936 AFAP1L2,AFAP1L2 Silent,Silent exm857650 10 116056981 [A/G] NM_032550,NM_001001936 AFAP1L2,AFAP1L2 EXON Silent,Missense_R769C exm857651 10 116056985 [T/G] NM_032550,NM_001001936 AFAP1L2,AFAP1L2 EXON Silent,Missense_S767R exm857652 10 116056991 [A/G] NM_032550,NM_001001936 AFAP1L2,AFAP1L2 EXON Synonymous_N765N,Synonymous_N765N exm857660 10 116057098 [A/G] NM_032550,NM_001001936 AFAP1L2,AFAP1L2 EXON Missense_R730C,Missense_R730C exm857663 10 116057112 [T/C] NM_032550,NM_001001936 AFAP1L2,AFAP1L2 EXON Missense_G725D,Missense_G725D exm857670 10 116059031 [G/C] NM_032550,NM_001001936 AFAP1L2,AFAP1L2 EXON Missense_L701V,Missense_L701V exm857678 10 116059967 [T/C] NM_032550,NM_001001936 AFAP1L2,AFAP1L2 EXON Missense_R648H,Missense_R648H exm857685 10 116060060 [A/G] NM_032550,NM_001001936 AFAP1L2,AFAP1L2 EXON Missense_T617M,Missense_T617M exm857692 10 116060266 [A/G] NM_032550,NM_001001936 AFAP1L2,AFAP1L2 EXON Missense_S576P,Missense_S576P exm857693 10 116060284 [T/C] NM_032550,NM_001001936 AFAP1L2,AFAP1L2 EXON Missense_E570K,Missense_E570K exm857696 10 116060313 [A/G] NM_032550,NM_001001936 AFAP1L2,AFAP1L2 EXON Missense_P560L,Missense_P560L exm857697 10 116060317 [T/A] NM_032550,NM_001001936 AFAP1L2,AFAP1L2 EXON Missense_S559T,Missense_S559T exm857704 10 116060427 [G/C] NM_032550,NM_001001936 AFAP1L2,AFAP1L2 EXON Missense_T522S,Missense_T522S exm857706 10 116061114 [A/G] NM_032550,NM_001001936 AFAP1L2,AFAP1L2 EXON Missense_A514V,Missense_A514V exm857713 10 116061209 [A/C] NM_032550,NM_001001936 AFAP1L2,AFAP1L2 EXON Missense_K482N,Missense_K482N exm857727 10 116064528 [A/G] NM_032550,NM_001001936 AFAP1L2,AFAP1L2 EXON Missense_L412F,Missense_L412F exm857729 10 116064556 [A/C] NM_032550,NM_001001936 AFAP1L2,AFAP1L2 EXON Missense_E402D,Missense_E402D exm857734 10 116064620 [T/C] NM_032550,NM_001001936 AFAP1L2,AFAP1L2 EXON Missense_H381R,Missense_H381R exm857743 10 116068193 [A/G] NM_032550,NM_001001936 AFAP1L2,AFAP1L2 EXON Synonymous_D322D,Synonymous_D322D exm857744 10 116068228 [T/C] NM_032550,NM_001001936 AFAP1L2,AFAP1L2 EXON Missense_V311M,Missense_V311M exm857748 10 116070141 [A/G] NM_032550,NM_001001936 AFAP1L2,AFAP1L2 EXON Missense_P285L,Missense_P285L exm857752 10 116070184 [G/C] NM_032550,NM_001001936 AFAP1L2,AFAP1L2 EXON Missense_G271R,Missense_G271R exm857758 10 116073697 [A/G] NM_032550,NM_001001936 AFAP1L2,AFAP1L2 EXON Missense_T242M,Missense_T242M exm857759 10 116073735 [A/C] NM_032550,NM_001001936 AFAP1L2,AFAP1L2 EXON Missense_E229D,Missense_E229D exm857768 10 116075405 [T/C] NM_032550,NM_001001936 AFAP1L2,AFAP1L2 EXON Missense_A176T,Missense_A176T exm857772 10 116075477 [T/C] NM_032550,NM_001001936 AFAP1L2,AFAP1L2 EXON Missense_D152N,Missense_D152N exm857774 10 116075519 [T/C] NM_032550,NM_001001936 AFAP1L2,AFAP1L2 EXON Missense_G138R,Missense_G138R exm857776 10 116082946 [A/C] NM_032550,NM_001001936 AFAP1L2,AFAP1L2 EXON Nonsense_Y130X,Nonsense_Y130X exm857779 10 116083011 [A/G] NM_032550,NM_001001936 AFAP1L2,AFAP1L2 EXON Missense_R109W,Missense_R109W exm857786 10 116091629 [T/C] NM_032550,NM_001001936 AFAP1L2,AFAP1L2 EXON Missense_N83S,Missense_N83S exm857791 10 116100383 [A/G] NM_032550,NM_001001936 AFAP1L2,AFAP1L2 EXON Missense_R42W,Missense_R42W exm857795 10 116100461 [T/C] NM_032550,NM_001001936 AFAP1L2,AFAP1L2 EXON Missense_D16N,Missense_D16N exm2267131 10 116102242 [A/G] NM_032550,NM_001001936 AFAP1L2,AFAP1L2 Silent,Silent exm-rs4751674 10 116139029 [T/C] NM_032550,NM_001001936 AFAP1L2,AFAP1L2 Silent,Silent exm857809 10 116196048 [T/C] NM_002313,NM_001003408,NM_006720,NM_001003407 ABLIM1,ABLIM1,ABLIM1,ABLIM1 EXON Missense_D770N,Missense_D738N,Missense_D447N,Missense_D710N exm857814 10 116196107 [T/C] NM_002313,NM_001003408,NM_006720,NM_001003407 ABLIM1,ABLIM1,ABLIM1,ABLIM1 EXON Missense_R750Q,Missense_R718Q,Missense_R427Q,Missense_R690Q exm857820 10 116198996 [A/C] NM_002313,NM_001003408,NM_006720,NM_001003407 ABLIM1,ABLIM1,ABLIM1,ABLIM1 EXON Missense_G694V,Missense_G662V,Missense_G371V,Missense_G634V exm857828 10 116203811 [T/C] NM_002313,NM_001003408,NM_006720,NM_001003407 ABLIM1,ABLIM1,ABLIM1,ABLIM1 EXON Missense_R637H,Missense_R605H,Missense_R314H,Missense_R577H exm857829 10 116203838 [T/C] NM_002313,NM_001003408,NM_006720,NM_001003407 ABLIM1,ABLIM1,ABLIM1,ABLIM1 EXON Missense_R628Q,Missense_R596Q,Missense_R305Q,Missense_R568Q exm857838 10 116207642 [T/C] NM_002313,NM_001003408,NM_006720,NM_001003407 ABLIM1,ABLIM1,ABLIM1,ABLIM1 EXON Missense_V578I,Missense_V546I,Missense_V255I,Missense_V518I exm857842 10 116207687 [T/C] NM_002313,NM_001003408,NM_006720,NM_001003407 ABLIM1,ABLIM1,ABLIM1,ABLIM1 EXON Missense_K563E,Missense_K531E,Missense_K240E,Missense_K503E exm857843 10 116207696 [T/C] NM_002313,NM_001003408,NM_006720,NM_001003407 ABLIM1,ABLIM1,ABLIM1,ABLIM1 EXON Missense_E560K,Missense_E528K,Missense_E237K,Missense_E500K exm857850 10 116213210 [A/G] NM_002313,NM_001003408,NM_006720,NM_001003407 ABLIM1,ABLIM1,ABLIM1,ABLIM1 EXON Missense_L492F,Missense_L460F,Silent,Missense_L432F exm857851 10 116213225 [T/C] NM_002313,NM_001003408,NM_006720,NM_001003407 ABLIM1,ABLIM1,ABLIM1,ABLIM1 EXON Missense_G487S,Missense_G455S,Silent,Missense_G427S exm2267048 10 116225365 [A/G] NM_002313,NM_001003408,NM_006720,NM_001003407 ABLIM1,ABLIM1,ABLIM1,ABLIM1 Silent,Silent,Silent,Silent exm857857 10 116225483 [T/C] NM_002313,NM_001003408,NM_006720,NM_001003407 ABLIM1,ABLIM1,ABLIM1,ABLIM1 EXON Missense_R472H,Missense_R440H,Missense_R184H,Missense_R412H exm857863 10 116225570 [T/C] NM_002313,NM_001003408,NM_006720,NM_001003407 ABLIM1,ABLIM1,ABLIM1,ABLIM1 EXON Missense_R443Q,Missense_R411Q,Missense_R155Q,Missense_R383Q exm1671776 10 116245085 [A/G] NM_002313,NM_001003408,NM_006720,NM_001003407 ABLIM1,ABLIM1,ABLIM1,ABLIM1 EXON Silent,Nonsense_R306X,Nonsense_R50X,Silent exm857882 10 116245112 [T/C] NM_002313,NM_001003408,NM_006720,NM_001003407 ABLIM1,ABLIM1,ABLIM1,ABLIM1 EXON Silent,Missense_D297N,Missense_D41N,Silent exm857886 10 116245127 [A/G] NM_002313,NM_001003408,NM_006720,NM_001003407 ABLIM1,ABLIM1,ABLIM1,ABLIM1 EXON Silent,Missense_R292W,Missense_R36W,Silent exm857903 10 116307504 [A/G] NM_002313,NM_001003408,NM_001003407 ABLIM1,ABLIM1,ABLIM1 EXON Synonymous_N235N,Synonymous_N175N,Synonymous_N175N exm2249053 10 116307504 [A/G] NM_002313,NM_001003408,NM_001003407 ABLIM1,ABLIM1,ABLIM1 EXON Synonymous_N235N,Synonymous_N175N,Synonymous_N175N exm857908 10 116331079 [A/G] NM_002313,NM_001003408,NM_001003407 ABLIM1,ABLIM1,ABLIM1 EXON Missense_P217L,Missense_P157L,Missense_P157L exm857929 10 116361652 [C/G] NM_002313,NM_001003408,NM_001003407 ABLIM1,ABLIM1,ABLIM1 EXON Missense_P105A,Missense_P45A,Missense_P45A exm857935 10 116417728 [T/C] NM_002313,NM_001003408,NM_001003407 ABLIM1,ABLIM1,ABLIM1 EXON Missense_V78I,Silent,Silent exm857936 10 116417737 [A/G] NM_002313,NM_001003408,NM_001003407 ABLIM1,ABLIM1,ABLIM1 EXON Missense_C75R,Silent,Silent exm857937 10 116417742 [T/C] NM_002313,NM_001003408,NM_001003407 ABLIM1,ABLIM1,ABLIM1 EXON Missense_R73H,Silent,Silent exm857942 10 116417796 [C/G] NM_002313,NM_001003408,NM_001003407 ABLIM1,ABLIM1,ABLIM1 EXON Missense_A55G,Silent,Silent exm857943 10 116417800 [A/G] NM_002313,NM_001003408,NM_001003407 ABLIM1,ABLIM1,ABLIM1 EXON Missense_R54C,Silent,Silent exm857948 10 116444081 [A/G] NM_001003408,NM_001003407 ABLIM1,ABLIM1 EXON Missense_T11M,Missense_T11M exm857950 10 116444106 [T/C] NM_001003408,NM_001003407 ABLIM1,ABLIM1 EXON Missense_M3V,Missense_M3V exm2267049 10 116539304 [A/G] exm857963 10 116590688 [A/G] NM_020940,NM_001135051 FAM160B1,FAM160B1 EXON Synonymous_S41S,Synonymous_S41S exm1671814 10 116595333 [A/G] NM_020940,NM_001135051 FAM160B1,FAM160B1 EXON Missense_Y111C,Missense_Y111C exm857971 10 116595381 [A/G] NM_020940,NM_001135051 FAM160B1,FAM160B1 EXON Missense_N127S,Missense_N127S exm857978 10 116602741 [T/A] NM_020940,NM_001135051 FAM160B1,FAM160B1 EXON Missense_E191V,Missense_E191V exm857996 10 116603648 [A/G] NM_020940,NM_001135051 FAM160B1,FAM160B1 EXON Missense_Q322R,Missense_Q322R exm858007 10 116605818 [T/C] NM_020940,NM_001135051 FAM160B1,FAM160B1 EXON Missense_I392T,Missense_I392T exm858010 10 116606001 [A/G] NM_020940,NM_001135051 FAM160B1,FAM160B1 EXON Missense_V425I,Missense_V425I exm858014 10 116606367 [A/G] NM_020940,NM_001135051 FAM160B1,FAM160B1 EXON Missense_N483S,Missense_N483S exm858027 10 116620610 [A/G] NM_020940,NM_001135051 FAM160B1,FAM160B1 EXON Missense_A684T,Missense_A684T exm858051 10 116659253 [A/G] NM_001135051 FAM160B1 EXON Missense_T733A exm858060 10 116698112 [A/C] NM_139169 TRUB1 EXON Missense_T34P exm858069 10 116702425 [A/C] NM_139169 TRUB1 EXON Missense_E103A exm858072 10 116702472 [A/G] NM_139169 TRUB1 EXON Missense_T119A exm858075 10 116702490 [T/C] NM_139169 TRUB1 EXON Nonsense_R125X exm858084 10 116719498 [T/C] NM_139169 TRUB1 EXON Missense_I152T exm858089 10 116719543 [A/G] NM_139169 TRUB1 EXON Missense_R167K exm858092 10 116730125 [A/C] NM_139169 TRUB1 Silent exm858093 10 116730148 [T/C] NM_139169 TRUB1 EXON Missense_I182T exm858100 10 116732014 [C/G] NM_139169 TRUB1 EXON Missense_Q239H exm858103 10 116734900 [A/G] NM_139169 TRUB1 EXON Missense_N271S exm858105 10 116734939 [T/C] NM_139169 TRUB1 EXON Missense_T284M exm2249055 10 116735132 [A/G] NM_139169 TRUB1 EXON Synonymous_T348T exm858108 10 116735132 [A/G] NM_139169 TRUB1 EXON Synonymous_T348T exm2271436 10 116752306 [T/C] exm858117 10 116853741 [A/C] NR_074088,NM_207303,NM_001276282 ATRNL1,ATRNL1,ATRNL1 EXON Silent,Missense_T78P,Missense_T78P exm858130 10 116889228 [A/G] NR_074088,NM_207303,NM_001276282 ATRNL1,ATRNL1,ATRNL1 EXON Silent,Missense_G254S,Missense_G254S exm858148 10 116930870 [A/G] NR_074088,NM_207303,NM_001276282 ATRNL1,ATRNL1,ATRNL1 EXON Silent,Missense_I390V,Missense_I390V exm858168 10 117024753 [A/G] NM_207303 ATRNL1 EXON Missense_G591R exm858170 10 117026339 [T/C] NM_207303 ATRNL1 EXON Missense_P613L exm858188 10 117045897 [A/G] NM_207303 ATRNL1 EXON Missense_Y802C exm858193 10 117059653 [A/G] NM_207303 ATRNL1 EXON Missense_N842S exm858207 10 117061544 [A/C] NM_207303 ATRNL1 EXON Missense_T937P exm2216743 10 117075031 [T/A] NM_207303 ATRNL1 EXON Missense_Q941L exm858215 10 117075090 [T/G] NM_207303 ATRNL1 EXON Missense_C961G exm858220 10 117075175 [A/G] NM_207303 ATRNL1 EXON Missense_S989N exm-rs2485971 10 117141509 [A/G] NM_207303 ATRNL1 Silent exm858234 10 117226750 [A/G] NM_207303 ATRNL1 EXON Missense_V1162I exm858235 10 117226753 [A/G] NM_207303 ATRNL1 EXON Missense_G1163S exm858237 10 117228721 [A/G] NM_207303 ATRNL1 EXON Missense_K1179R exm858238 10 117228744 [A/G] NM_207303 ATRNL1 EXON Missense_D1187N exm858242 10 117228778 [A/G] NM_207303 ATRNL1 EXON Missense_S1198N exm858248 10 117278792 [A/G] NM_207303 ATRNL1 EXON Missense_N1225S exm2271357 10 117282016 [T/C] NM_207303 ATRNL1 Silent exm858252 10 117309039 [A/G] NM_207303 ATRNL1 EXON Missense_R1263Q exm858265 10 117486852 [A/G] NM_207303 ATRNL1 EXON Missense_R1297Q exm2259531 10 117665860 [A/G] NM_207303 ATRNL1 Silent exm2267050 10 117728741 [A/G] exm858280 10 117823928 [T/G] NM_145793,NM_001145453,NM_005264 GFRA1,GFRA1,GFRA1 EXON Missense_S455Y,Missense_S455Y,Missense_S460Y exm858297 10 117849353 [T/C] NM_145793,NM_001145453,NM_005264 GFRA1,GFRA1,GFRA1 EXON Missense_T361A,Missense_T361A,Missense_T366A exm858300 10 117853219 [A/G] NM_145793,NM_001145453,NM_005264 GFRA1,GFRA1,GFRA1 EXON Missense_C332R,Missense_C332R,Missense_C337R exm858301 10 117853243 [T/A] NM_145793,NM_001145453,NM_005264 GFRA1,GFRA1,GFRA1 EXON Missense_L324M,Missense_L324M,Missense_L329M exm858311 10 117884747 [A/G] NM_145793,NM_001145453,NM_005264 GFRA1,GFRA1,GFRA1 EXON Missense_T247M,Missense_T247M,Missense_T252M exm858312 10 117884748 [T/C] NM_145793,NM_001145453,NM_005264 GFRA1,GFRA1,GFRA1 EXON Missense_T247A,Missense_T247A,Missense_T252A exm858317 10 117884852 [T/C] NM_145793,NM_001145453,NM_005264 GFRA1,GFRA1,GFRA1 EXON Missense_R212Q,Missense_R212Q,Missense_R217Q exm858323 10 117884951 [T/C] NM_145793,NM_001145453,NM_005264 GFRA1,GFRA1,GFRA1 EXON Missense_N179S,Missense_N179S,Missense_N184S exm858339 10 118030415 [A/T] NM_145793,NM_001145453,NM_005264 GFRA1,GFRA1,GFRA1 EXON Missense_Y85N,Missense_Y85N,Missense_Y85N exm858345 10 118030627 [T/G] NM_145793,NM_001145453,NM_005264 GFRA1,GFRA1,GFRA1 EXON Missense_D14A,Missense_D14A,Missense_D14A exm858358 10 118084877 [A/G] NM_198515 CCDC172 EXON Missense_E48K exm858360 10 118100268 [T/C] NM_198515 CCDC172 EXON Missense_S63F exm1672006 10 118100319 [A/G] NM_198515 CCDC172 EXON Missense_Y80C exm858370 10 118137967 [T/A] NM_198515 CCDC172 EXON Missense_D229V exm-rs7087634 10 118171016 [T/C] exm858380 10 118187528 [T/C] NM_001011709 PNLIPRP3 EXON Missense_L2F exm858399 10 118203969 [G/C] NM_001011709 PNLIPRP3 EXON Missense_V134L exm1672026 10 118215261 [T/G] NM_001011709 PNLIPRP3 EXON Missense_V162L exm858411 10 118220558 [A/G] NM_001011709 PNLIPRP3 EXON Missense_V216I exm858415 10 118220689 [A/C] NM_001011709 PNLIPRP3 EXON Missense_T232N exm858421 10 118225571 [A/C] NM_001011709 PNLIPRP3 EXON Missense_S273Y exm858422 10 118225618 [A/G] NM_001011709 PNLIPRP3 EXON Missense_S289G exm858428 10 118228755 [G/C] NM_001011709 PNLIPRP3 EXON Missense_R329T exm858429 10 118228763 [T/C] NM_001011709 PNLIPRP3 EXON Missense_F332L exm858432 10 118231328 [A/G] NM_001011709 PNLIPRP3 EXON Missense_Q370R exm858435 10 118231357 [A/G] NM_001011709 PNLIPRP3 EXON Missense_A380T exm858438 10 118231363 [A/G] NM_001011709 PNLIPRP3 EXON Missense_R382G exm858449 10 118236278 [T/G] NM_001011709 PNLIPRP3 EXON Missense_Q429H exm1672042 10 118236315 [A/G] NM_001011709 PNLIPRP3 EXON Missense_G442R exm858451 10 118236610 [A/T] NM_001011709 PNLIPRP3 EXON Missense_F450Y exm858452 10 118236624 [A/G] NM_001011709 PNLIPRP3 EXON Missense_I455V exm1672051 10 118306931 [T/C] NM_000936 PNLIP EXON Missense_Y58H exm1672052 10 118306934 [A/G] NM_000936 PNLIP EXON Missense_T59A exm858485 10 118313249 [A/G] NM_000936 PNLIP EXON Missense_G157D exm2249058 10 118318743 [T/C] NM_000936 PNLIP EXON Synonymous_N336N exm858518 10 118321055 [A/T] NM_000936 PNLIP EXON Missense_M414K exm858527 10 118351375 [A/G] NM_006229 PNLIPRP1 EXON Missense_S48G exm858529 10 118351394 [T/C] NM_006229 PNLIPRP1 EXON Missense_T54I exm858530 10 118351414 [A/G] NM_006229 PNLIPRP1 EXON Missense_N61D exm858533 10 118351992 [A/G] NM_006229 PNLIPRP1 EXON Missense_R90Q exm858540 10 118354278 [A/G] NM_006229 PNLIPRP1 EXON Missense_V123M exm858542 10 118354344 [A/G] NM_006229 PNLIPRP1 EXON Missense_A145T exm858551 10 118355748 [T/C] NM_006229 PNLIPRP1 EXON Missense_S163F exm858552 10 118355780 [C/G] NM_006229 PNLIPRP1 EXON Missense_A174P exm858554 10 118355789 [A/G] NM_006229 PNLIPRP1 EXON Missense_A177T exm858564 10 118357568 [T/C] NM_006229 PNLIPRP1 EXON Missense_T235M exm858571 10 118357676 [T/C] NM_006229 PNLIPRP1 EXON Missense_A271V exm858572 10 118357677 [A/G] NM_006229 PNLIPRP1 EXON Synonymous_A271A exm858576 10 118359564 [T/C] NM_006229 PNLIPRP1 EXON Missense_R274W exm858603 10 118364914 [A/G] NM_006229 PNLIPRP1 EXON Missense_G397S exm858605 10 118364967 [G/C] NM_006229 PNLIPRP1 EXON Missense_E414D exm858613 10 118368606 [T/C] NM_006229 PNLIPRP1 EXON Missense_L461P exm858636 10 118385551 [T/C] NM_005396 PNLIPRP2 EXON Missense_R101W exm2216749 10 118385567 [A/G] NM_005396 PNLIPRP2 EXON Missense_H106R exm858638 10 118385569 [T/C] NM_005396 PNLIPRP2 EXON Missense_R107W exm858639 10 118386380 [A/G] NM_005396 PNLIPRP2 EXON Missense_C113Y exm858640 10 118386399 [A/C] NM_005396 PNLIPRP2 EXON Missense_X119C exm858643 10 118386446 [T/C] NM_005396 PNLIPRP2 EXON Missense_P135L exm858644 10 118386452 [T/C] NM_005396 PNLIPRP2 EXON Missense_P137L exm858648 10 118387282 [A/G] NM_005396 PNLIPRP2 EXON Missense_X159W exm858651 10 118389458 [A/G] NM_005396 PNLIPRP2 EXON Nonsense_W195X exm858663 10 118394395 [A/G] NM_005396 PNLIPRP2 EXON Missense_S288N exm858665 10 118394419 [A/C] NM_005396 PNLIPRP2 EXON Missense_T296N exm858666 10 118394470 [C/G] NM_005396 PNLIPRP2 EXON Missense_R313T exm858668 10 118397884 [A/G] NM_005396 PNLIPRP2 EXON Missense_E358G exm858674 10 118397971 [A/G] NM_005396 PNLIPRP2 EXON Missense_Q387R exm858681 10 118401721 [A/G] NM_005396 PNLIPRP2 EXON Missense_V426M exm858699 10 118424362 [A/G] NM_144661 C10orf82 EXON Missense_T124M exm858712 10 118425172 [A/G] NM_144661 C10orf82 EXON Missense_T74M exm858714 10 118425181 [A/G] NM_144661 C10orf82 EXON Missense_S71F exm858720 10 118425322 [A/C] NM_144661 C10orf82 EXON Missense_L24R exm1672155 10 118427770 [A/G] NM_144661 C10orf82 EXON Synonymous_S18S exm858734 10 118434408 [T/C] NM_025015 HSPA12A EXON Missense_A638T exm858750 10 118434621 [T/C] NM_025015 HSPA12A EXON Missense_V567I exm858751 10 118434636 [A/G] NM_025015 HSPA12A EXON Missense_R562W exm858758 10 118434744 [T/C] NM_025015 HSPA12A EXON Missense_A526T exm858759 10 118434750 [A/C] NM_025015 HSPA12A EXON Missense_D524Y exm858760 10 118434780 [T/C] NM_025015 HSPA12A EXON Missense_I514V exm2249059 10 118434784 [T/G] NM_025015 HSPA12A EXON Synonymous_L512L exm858786 10 118439206 [T/C] NM_025015 HSPA12A EXON Missense_E365G exm858791 10 118439271 [A/G] NM_025015 HSPA12A EXON Synonymous_G343G exm858799 10 118441322 [A/G] NM_025015 HSPA12A EXON Missense_I301T exm2249060 10 118448078 [T/C] NM_025015 HSPA12A Silent exm858824 10 118460566 [T/G] NM_025015 HSPA12A EXON Missense_K110T exm858828 10 118460608 [T/C] NM_025015 HSPA12A EXON Missense_N96S exm858831 10 118464735 [T/C] NM_025015 HSPA12A EXON Missense_V61I exm858835 10 118466793 [A/G] NM_025015 HSPA12A EXON Missense_T15M exm2271359 10 118551705 [T/G] exm-rs740363 10 118575606 [A/G] exm858850 10 118645884 [T/C] NM_018330,NM_001258298,NM_001127211 KIAA1598,KIAA1598,KIAA1598 EXON Silent,Missense_V563M,Missense_V623M exm858853 10 118646037 [T/C] NM_018330,NM_001258298,NM_001127211 KIAA1598,KIAA1598,KIAA1598 EXON Silent,Missense_G512S,Missense_G572S exm858857 10 118661316 [A/G] NM_018330,NM_001258298,NM_001127211,NM_001258299,NM_001258300 KIAA1598,KIAA1598,KIAA1598,KIAA1598,KIAA1598 EXON Silent,Missense_R485C,Missense_R545C,Missense_R545C,Missense_R485C exm858859 10 118661351 [A/G] NM_018330,NM_001258298,NM_001127211,NM_001258299,NM_001258300 KIAA1598,KIAA1598,KIAA1598,KIAA1598,KIAA1598 EXON Silent,Missense_P473L,Missense_P533L,Missense_P533L,Missense_P473L exm858886 10 118700051 [A/G] NM_018330,NM_001258298,NM_001127211,NM_001258299,NM_001258300 KIAA1598,KIAA1598,KIAA1598,KIAA1598,KIAA1598 EXON Missense_L262F,Missense_L202F,Missense_L262F,Missense_L262F,Missense_L202F exm858895 10 118711420 [T/C] NM_018330,NM_001258298,NM_001127211,NM_001258299,NM_001258300 KIAA1598,KIAA1598,KIAA1598,KIAA1598,KIAA1598 EXON Synonymous_E178E,Synonymous_E118E,Synonymous_E178E,Synonymous_E178E,Synonymous_E118E exm-rs7078160 10 118827560 [A/G] NM_001258300 KIAA1598 Silent exm858932 10 118896065 [T/C] NM_199131,NM_001112704 VAX1,VAX1 EXON Missense_E116G,Missense_E116G exm858941 10 118897354 [T/C] NM_199131,NM_001112704 VAX1,VAX1 EXON Missense_D72N,Missense_D72N exm2259534 10 118916215 [T/G] exm858966 10 118957057 [G/C] NM_181840 KCNK18 EXON Missense_L20V exm858979 10 118960774 [T/C] NM_181840 KCNK18 EXON Missense_C110R exm1672246 10 118960781 [T/C] NM_181840 KCNK18 EXON Missense_T112M exm858984 10 118969028 [A/G] NM_181840 KCNK18 EXON Missense_V125I exm858991 10 118969148 [T/C] NM_181840 KCNK18 EXON Missense_R165W exm858998 10 118969248 [G/C] NM_181840 KCNK18 EXON Missense_A198G exm859001 10 118969346 [T/C] NM_181840 KCNK18 EXON Missense_S231P exm859003 10 118969380 [T/C] NM_181840 KCNK18 EXON Missense_L242P exm859018 10 118969691 [A/G] NM_181840 KCNK18 EXON Missense_V346I exm859019 10 118969769 [T/C] NM_181840 KCNK18 EXON Missense_F372L exm859022 10 119001253 [T/C] NM_003054 SLC18A2 EXON Missense_R17C exm859026 10 119003545 [T/C] NM_003054 SLC18A2 EXON Missense_T62M exm859028 10 119003563 [T/C] NM_003054 SLC18A2 EXON Missense_T68I exm859034 10 119003727 [C/G] NM_003054 SLC18A2 EXON Missense_D123H exm859041 10 119012936 [T/C] NM_003054 SLC18A2 EXON Missense_A164V exm859056 10 119014856 [A/G] NM_003054 SLC18A2 EXON Missense_A257T exm859071 10 119017310 [T/A] NM_003054 SLC18A2 EXON Missense_S300T exm859086 10 119029975 [T/G] NM_003054 SLC18A2 Silent exm859093 10 119042867 [T/C] NM_173791 PDZD8 EXON Missense_D1126G exm859099 10 119043053 [A/G] NM_173791 PDZD8 EXON Missense_T1064I exm859104 10 119043266 [T/C] NM_173791 PDZD8 EXON Missense_R993Q exm859113 10 119043458 [T/G] NM_173791 PDZD8 EXON Missense_N929T exm859114 10 119043554 [T/C] NM_173791 PDZD8 EXON Missense_R897Q exm859119 10 119043827 [A/G] NM_173791 PDZD8 EXON Missense_V806A exm859121 10 119043835 [T/G] NM_173791 PDZD8 EXON Missense_H803Q exm859135 10 119044184 [T/C] NM_173791 PDZD8 EXON Missense_R687H exm859136 10 119044218 [A/G] NM_173791 PDZD8 EXON Missense_R676C exm859138 10 119044242 [A/G] NM_173791 PDZD8 EXON Missense_P668S exm859153 10 119044793 [T/C] NM_173791 PDZD8 EXON Missense_G484E exm859155 10 119044800 [T/C] NM_173791 PDZD8 EXON Missense_A482T exm859160 10 119044940 [T/C] NM_173791 PDZD8 EXON Missense_K435R exm859169 10 119078391 [T/G] NM_173791 PDZD8 EXON Missense_I364L exm859195 10 119134615 [T/C] NM_173791 PDZD8 EXON Missense_G42S exm859200 10 119134702 [T/G] NM_173791 PDZD8 EXON Missense_L13M exm859201 10 119134707 [A/G] NM_173791 PDZD8 EXON Missense_A11V exm2267051 10 119229866 [A/G] exm859226 10 119307709 [A/G] NM_001165924,NM_004098 EMX2,EMX2 EXON Silent,Missense_S242N exm-rs2184898 10 119418104 [A/G] exm2267052 10 119533345 [A/G] exm2271438 10 119731281 [T/C] exm859240 10 119774577 [A/G] NM_014904 RAB11FIP2 EXON Missense_P437L exm859241 10 119774598 [A/T] NM_014904 RAB11FIP2 EXON Missense_N430I exm859249 10 119798603 [T/C] NM_014904 RAB11FIP2 EXON Missense_S382N exm859261 10 119798924 [T/G] NM_014904 RAB11FIP2 EXON Missense_T275K exm859262 10 119798934 [A/G] NM_014904 RAB11FIP2 EXON Missense_H272Y exm859264 10 119799645 [A/C] NM_014904 RAB11FIP2 EXON Missense_V262G exm859270 10 119799766 [A/G] NM_014904 RAB11FIP2 EXON Missense_L222F exm859275 10 119799956 [C/G] NM_014904 RAB11FIP2 EXON Missense_D158E exm859285 10 119805598 [T/C] NM_014904 RAB11FIP2 EXON Missense_K26R exm859295 10 120070743 [T/C] NM_001134672,NM_022063 FAM204A,FAM204A EXON Missense_R209Q,Missense_R209Q exm859314 10 120095771 [T/C] NM_001134672,NM_022063 FAM204A,FAM204A EXON Missense_E53K,Missense_E53K exm2274442 10 120095773 [T/C] NM_001134672,NM_022063 FAM204A,FAM204A EXON Missense_D52G,Missense_D52G exm859330 10 120353843 [A/G] NM_004248 PRLHR EXON Missense_P305L exm859334 10 120353910 [T/C] NM_004248 PRLHR EXON Missense_I283V exm859340 10 120353960 [T/G] NM_004248 PRLHR EXON Missense_A266D exm859367 10 120354701 [A/G] NM_004248 PRLHR EXON Missense_P19L exm2267053 10 120493700 [A/G] NM_153810 CACUL1 Silent exm2249067 10 120514032 [T/C] NM_153810 CACUL1 EXON Synonymous_P81P exm859412 10 120514232 [T/C] NM_153810 CACUL1 EXON Missense_A15T exm2259536 10 120727619 [T/C] exm859434 10 120795603 [T/C] NM_003750 EIF3A EXON Missense_R1366H exm859440 10 120795721 [A/G] NM_003750 EIF3A EXON Missense_P1327S exm859448 10 120796766 [A/C] NM_003750 EIF3A EXON Missense_S1262A exm859463 10 120801625 [T/C] NM_003750 EIF3A EXON Missense_D1136G exm1672478 10 120801640 [T/C] NM_003750 EIF3A EXON Missense_R1131H exm859478 10 120801896 [A/G] NM_003750 EIF3A EXON Missense_R1046W exm859479 10 120801908 [A/T] NM_003750 EIF3A EXON Missense_M1042L exm859487 10 120802053 [T/A] NM_003750 EIF3A EXON Missense_D993E exm859488 10 120802076 [A/G] NM_003750 EIF3A EXON Missense_R986W exm859490 10 120802082 [T/C] NM_003750 EIF3A EXON Missense_D984N exm859521 10 120810098 [T/C] NM_003750 EIF3A EXON Missense_R803K exm859524 10 120810177 [T/G] NM_003750 EIF3A EXON Missense_K777Q exm859525 10 120810725 [C/G] NM_003750 EIF3A EXON Missense_Q769E exm859526 10 120810730 [T/G] NM_003750 EIF3A EXON Missense_A767E exm859539 10 120818761 [C/G] NM_003750 EIF3A EXON Missense_A531G exm859576 10 120830487 [T/C] NM_003750 EIF3A EXON Missense_I218V exm2216769 10 120833042 [T/C] NM_003750 EIF3A EXON Missense_M96I exm859597 10 120863692 [T/C] NM_207009,NR_027141 FAM45A,FAM45B EXON Missense_L13P,Silent exm859609 10 120871425 [T/C] NM_207009,NR_027141 FAM45A,FAM45B EXON Missense_T106I,Silent exm859615 10 120877150 [A/G] NM_207009,NR_027141 FAM45A,FAM45B EXON Missense_R151Q,Silent exm859621 10 120883039 [T/C] NM_207009,NR_027141 FAM45A,FAM45B EXON Missense_H218Y,Silent exm859622 10 120883045 [A/G] NM_207009,NR_027141 FAM45A,FAM45B EXON Missense_N220D,Silent exm859629 10 120889108 [A/G] NM_207009,NR_027141 FAM45A,FAM45B EXON Missense_E259G,Silent exm859632 10 120892120 [A/G] NM_207009,NR_027141 FAM45A,FAM45B EXON Missense_Q299R,Silent exm859654 10 120914656 [T/C] NM_213649 SFXN4 EXON Missense_R217Q exm859690 10 120923666 [G/C] NM_213649 SFXN4 EXON Missense_P52A exm2249068 10 120925103 [A/G] NM_213649 SFXN4 EXON Synonymous_D19D exm859702 10 120928705 [A/G] NM_014098,NM_006793 PRDX3,PRDX3 EXON Missense_T216I,Missense_T234I exm2216772 10 120928714 [A/G] NM_014098,NM_006793 PRDX3,PRDX3 EXON Missense_A213V,Missense_A231V exm859715 10 120928831 [T/C] NM_014098,NM_006793 PRDX3,PRDX3 EXON Missense_N174S,Missense_N192S exm859718 10 120931925 [A/C] NM_014098,NM_006793 PRDX3,PRDX3 EXON Missense_V156L,Missense_V174L exm859719 10 120931928 [A/C] NM_014098,NM_006793 PRDX3,PRDX3 EXON Missense_G155C,Missense_G173C exm859722 10 120931936 [T/C] NM_014098,NM_006793 PRDX3,PRDX3 EXON Missense_R152Q,Missense_R170Q exm859730 10 120936539 [T/G] NM_014098,NM_006793 PRDX3,PRDX3 EXON Silent,Missense_S55R exm859731 10 120936553 [T/G] NM_014098,NM_006793 PRDX3,PRDX3 EXON Missense_Q50P,Missense_Q50P exm859750 10 121086097 [T/A] NM_005308 GRK5 EXON Missense_Q41L exm859761 10 121182694 [T/C] NM_005308 GRK5 EXON Missense_A119V exm859763 10 121182724 [T/C] NM_005308 GRK5 EXON Missense_T129M exm859764 10 121182759 [A/C] NM_005308 GRK5 EXON Missense_L141I exm2264396 10 121191186 [A/C] NM_005308 GRK5 Silent exm859780 10 121196316 [A/G] NM_005308 GRK5 EXON Missense_G298S exm859781 10 121196334 [T/C] NM_005308 GRK5 EXON Missense_R304C exm859782 10 121196335 [A/G] NM_005308 GRK5 EXON Missense_R304H exm859789 10 121201559 [A/G] NM_005308 GRK5 EXON Missense_G339E exm859800 10 121203194 [A/G] NM_005308 GRK5 EXON Missense_R399H exm859807 10 121207710 [T/C] NM_005308 GRK5 EXON Missense_F448L exm859811 10 121207772 [T/C] NM_005308 GRK5 EXON Synonymous_D468D exm859812 10 121212218 [C/G] NM_005308 GRK5 EXON Missense_I480M exm859827 10 121214503 [T/C] NM_005308 GRK5 EXON Missense_S566L exm859834 10 121259670 [T/A] NM_001005339,NM_002925 RGS10,RGS10 EXON Missense_D167E,Missense_D153E exm1672635 10 121286832 [T/C] NM_001005339,NM_002925 RGS10,RGS10 EXON Missense_V52M,Missense_V38M exm2259537 10 121323204 [A/G] exm2249070 10 121355951 [T/C] NM_003252,NM_001033925 TIAL1,TIAL1 EXON Synonymous_R9R,Synonymous_R9R exm859912 10 121411212 [A/G] NM_004281 BAG3 EXON Missense_M9V exm859918 10 121411315 [A/C] NM_004281 BAG3 EXON Missense_N43T exm2275296 10 121429363 [A/G] NM_004281 BAG3 EXON Missense_E61K exm859922 10 121429369 [C/G] NM_004281 BAG3 EXON Missense_P63A exm859924 10 121429394 [A/G] NM_004281 BAG3 EXON Missense_R71Q exm859925 10 121429412 [T/C] NM_004281 BAG3 EXON Missense_P77L exm859927 10 121429431 [A/C] NM_004281 BAG3 EXON Missense_H83Q exm859928 10 121429462 [T/A] NM_004281 BAG3 EXON Missense_I94F exm859933 10 121429550 [A/G] NM_004281 BAG3 EXON Missense_R123Q exm859938 10 121429633 [T/C] NM_004281 BAG3 EXON Missense_C151R exm859940 10 121429645 [A/G] NM_004281 BAG3 EXON Missense_A155T exm1672720 10 121432031 [T/C] NM_004281 BAG3 EXON Missense_R258W exm859962 10 121432080 [T/C] NM_004281 BAG3 EXON Missense_S274L exm859972 10 121432151 [A/G] NM_004281 BAG3 EXON Missense_V298M exm859980 10 121436204 [T/C] NM_004281 BAG3 EXON Missense_P380S exm859987 10 121436286 [T/C] NM_004281 BAG3 EXON Missense_P407L exm859988 10 121436306 [A/G] NM_004281 BAG3 EXON Missense_E414K exm859992 10 121436387 [A/G] NM_004281 BAG3 EXON Missense_N441D exm859993 10 121436483 [C/G] NM_004281 BAG3 EXON Missense_R473G exm859996 10 121436502 [T/C] NM_004281 BAG3 EXON Missense_A479V exm860000 10 121436654 [A/G] NM_004281 BAG3 EXON Missense_V530M exm2216777 10 121437329 [A/G] NM_004281 BAG3 EXON Silent exm860012 10 121510669 [A/G] NM_014937,NM_001243195 INPP5F,INPP5F Silent,Silent exm860019 10 121551143 [T/C] NM_014937,NM_001243195 INPP5F,INPP5F EXON Missense_P144S,Missense_P144S exm860031 10 121556259 [A/G] NM_014937 INPP5F EXON Missense_M234I exm860032 10 121556260 [A/C] NM_014937 INPP5F EXON Missense_I235L exm860041 10 121556976 [T/C] NM_014937 INPP5F EXON Missense_M291T exm860044 10 121557050 [A/G] NM_014937 INPP5F EXON Missense_V316I exm860055 10 121564904 [T/C] NM_014937 INPP5F EXON Missense_M417T exm860059 10 121565909 [A/G] NM_014937 INPP5F EXON Missense_I453V exm860062 10 121565951 [A/G] NM_014937 INPP5F EXON Missense_V467M exm860101 10 121586413 [T/G] NM_014937,NM_001243194 INPP5F,INPP5F EXON Missense_M840I,Missense_M230I exm860103 10 121586426 [C/G] NM_014937,NM_001243194 INPP5F,INPP5F EXON Missense_A845P,Missense_A235P exm860104 10 121586448 [T/C] NM_014937,NM_001243194 INPP5F,INPP5F EXON Missense_S852F,Missense_S242F exm1672789 10 121586520 [T/C] NM_014937,NM_001243194 INPP5F,INPP5F EXON Missense_A876V,Missense_A266V exm1672790 10 121586555 [A/G] NM_014937,NM_001243194 INPP5F,INPP5F EXON Missense_V888I,Missense_V278I exm860109 10 121586591 [T/C] NM_014937,NM_001243194 INPP5F,INPP5F EXON Nonsense_R900X,Nonsense_R290X exm860120 10 121586882 [A/G] NM_014937,NM_001243194 INPP5F,INPP5F EXON Missense_N997D,Missense_N387D exm860121 10 121586916 [T/C] NM_014937,NM_001243194 INPP5F,INPP5F EXON Missense_P1008L,Missense_P398L exm860124 10 121586939 [T/G] NM_014937,NM_001243194 INPP5F,INPP5F EXON Missense_V1016F,Missense_V406F exm860126 10 121586951 [C/G] NM_014937,NM_001243194 INPP5F,INPP5F EXON Missense_A1020P,Missense_A410P exm860127 10 121586964 [A/G] NM_014937,NM_001243194 INPP5F,INPP5F EXON Missense_Q1024R,Missense_Q414R exm860128 10 121586968 [T/A] NM_014937,NM_001243194 INPP5F,INPP5F EXON Missense_F1025L,Missense_F415L exm860133 10 121587043 [C/G] NM_014937,NM_001243194 INPP5F,INPP5F EXON Missense_E1050D,Missense_E440D exm860137 10 121587065 [T/C] NM_014937,NM_001243194 INPP5F,INPP5F EXON Missense_S1058P,Missense_S448P exm860156 10 121595054 [T/G] NM_001256379,NM_001256378,NM_024834 MCMBP,MCMBP,MCMBP EXON Missense_K396Q,Missense_K569Q,Missense_K571Q exm860188 10 121602916 [A/G] NM_001256379,NM_001256378,NM_024834 MCMBP,MCMBP,MCMBP EXON Missense_P111S,Missense_P284S,Missense_P284S exm860199 10 121612582 [T/C] NM_001256379,NM_001256378,NM_024834 MCMBP,MCMBP,MCMBP EXON Missense_H12R,Missense_H185R,Missense_H185R exm860204 10 121612702 [T/C] NM_001256379,NM_001256378,NM_024834 MCMBP,MCMBP,MCMBP EXON Silent,Missense_Y145C,Missense_Y145C exm1672832 10 121612703 [A/T] NM_001256379,NM_001256378,NM_024834 MCMBP,MCMBP,MCMBP EXON Silent,Missense_Y145N,Missense_Y145N exm860208 10 121616863 [A/G] NM_001256379,NM_001256378,NM_024834 MCMBP,MCMBP,MCMBP EXON Silent,Missense_T139M,Missense_T139M exm860238 10 121652427 [A/G] NM_007190,NR_037771 SEC23IP,SEC23IP EXON Missense_A45T,Silent exm860258 10 121658341 [A/G] NM_007190,NR_037771 SEC23IP,SEC23IP EXON Missense_S189N,Silent exm860261 10 121658400 [T/C] NM_007190,NR_037771 SEC23IP,SEC23IP EXON Missense_P209S,Silent exm860269 10 121662374 [T/G] NM_007190,NR_037771 SEC23IP,SEC23IP EXON Missense_V254F,Silent exm860270 10 121662392 [T/C] NM_007190,NR_037771 SEC23IP,SEC23IP EXON Missense_F260L,Silent exm860273 10 121662413 [A/G] NM_007190,NR_037771 SEC23IP,SEC23IP EXON Missense_E267K,Silent exm860280 10 121663608 [T/C] NM_007190,NR_037771 SEC23IP,SEC23IP EXON Missense_P307L,Silent exm860283 10 121663619 [A/G] NM_007190,NR_037771 SEC23IP,SEC23IP EXON Missense_V311I,Silent exm860297 10 121671605 [T/C] NM_007190,NR_037771 SEC23IP,SEC23IP EXON Missense_T414M,Silent exm860327 10 121678995 [C/G] NM_007190,NR_037771 SEC23IP,SEC23IP EXON Missense_D638H,Silent exm860328 10 121679013 [A/G] NM_007190,NR_037771 SEC23IP,SEC23IP EXON Missense_K644E,Silent exm860337 10 121685579 [T/C] NM_007190,NR_037771 SEC23IP,SEC23IP EXON Missense_A718V,Silent exm860346 10 121685689 [A/G] NM_007190,NR_037771 SEC23IP,SEC23IP EXON Missense_V755M,Silent exm860349 10 121685740 [T/G] NM_007190,NR_037771 SEC23IP,SEC23IP Silent,Silent exm1672892 10 121689160 [A/G] NM_007190,NR_037771 SEC23IP,SEC23IP EXON Missense_I785M,Silent exm860351 10 121689182 [A/G] NM_007190,NR_037771 SEC23IP,SEC23IP EXON Missense_I793V,Silent exm860352 10 121689188 [A/G] NM_007190,NR_037771 SEC23IP,SEC23IP EXON Missense_M795V,Silent exm860357 10 121689274 [A/G] NM_007190,NR_037771 SEC23IP,SEC23IP EXON Synonymous_P823P,Silent exm860367 10 121692606 [T/C] NM_007190,NR_037771 SEC23IP,SEC23IP EXON Missense_Y950H,Silent exm2267054 10 121871353 [A/G] exm2267134 10 122152784 [A/G] exm860383 10 122263331 [T/C] NM_001030059 PPAPDC1A EXON Missense_F20L exm860387 10 122273456 [T/G] NM_001030059 PPAPDC1A EXON Missense_C67G exm860389 10 122273474 [T/C] NM_001030059 PPAPDC1A EXON Missense_R73W exm2249075 10 122348065 [A/G] NM_001030059,NR_049879 PPAPDC1A,MIR5694 Silent,Silent exm860410 10 122348923 [A/G] NM_001030059,NR_049879 PPAPDC1A,MIR5694 EXON Missense_R242Q,Silent exm860425 10 122610998 [G/C] NR_049879,NM_018117 MIR5694,WDR11 EXON Silent,Missense_H22Q exm860447 10 122622264 [A/G] NR_049879,NM_018117 MIR5694,WDR11 EXON Silent,Missense_I182V exm860469 10 122626152 [A/G] NR_049879,NM_018117 MIR5694,WDR11 EXON Silent,Missense_V356I exm860479 10 122630693 [A/G] NR_049879,NM_018117 MIR5694,WDR11 EXON Silent,Missense_I436V exm860481 10 122630729 [T/C] NR_049879,NM_018117 MIR5694,WDR11 EXON Silent,Missense_R448W exm860491 10 122630836 [G/C] NR_049879,NM_018117 MIR5694,WDR11 EXON Silent,Missense_M483I exm860507 10 122645404 [A/G] NR_049879,NM_018117 MIR5694,WDR11 EXON Silent,Missense_V643I exm860522 10 122649481 [T/C] NR_049879,NM_018117 MIR5694,WDR11 EXON Silent,Missense_A768V exm2249076 10 122649482 [A/G] NR_049879,NM_018117 MIR5694,WDR11 EXON Silent,Synonymous_A768A exm860524 10 122649483 [A/G] NR_049879,NM_018117 MIR5694,WDR11 EXON Silent,Missense_M769V exm860538 10 122659625 [A/G] NR_049879,NM_018117 MIR5694,WDR11 EXON Silent,Missense_Q867R exm860539 10 122659648 [A/G] NR_049879,NM_018117 MIR5694,WDR11 EXON Silent,Missense_V875I exm2216785 10 122662613 [T/C] NR_049879,NM_018117 MIR5694,WDR11 EXON Silent,Missense_H934Y exm860547 10 122662680 [A/G] NR_049879,NM_018117 MIR5694,WDR11 EXON Silent,Missense_R956Q exm860551 10 122663559 [A/C] NR_049879,NM_018117 MIR5694,WDR11 EXON Silent,Missense_K978Q exm860554 10 122663589 [A/G] NR_049879,NM_018117 MIR5694,WDR11 EXON Silent,Missense_E988K exm860574 10 122666300 [T/G] NR_049879,NM_018117 MIR5694,WDR11 EXON Silent,Missense_F1150L exm860580 10 122668121 [A/G] NR_049879,NM_018117 MIR5694,WDR11 EXON Silent,Missense_G1191S exm-rs2901286 10 122900623 [A/C] exm-rs12358575 10 122962934 [T/C] exm-rs10788160 10 123033549 [A/G] exm2267056 10 123043389 [A/G] exm860609 10 123239388 [T/C] NM_022970,NM_001144916,NM_001144914,NM_001144918,NM_000141,NM_001144917,NR_073009,NM_001144915,NM_023029 FGFR2,FGFR2,FGFR2,FGFR2,FGFR2,FGFR2,FGFR2,FGFR2,FGFR2 EXON Missense_G818S,Missense_G702S,Missense_G705S,Missense_G700S,Missense_G817S,Missense_G701S,Silent,Silent,Missense_G728S exm860614 10 123241686 [T/C] NM_022970,NM_001144916,NM_001144914,NM_001144918,NM_000141,NM_001144917,NR_073009,NM_001144915,NM_023029,NM_001144913,NM_001144919 FGFR2,FGFR2,FGFR2,FGFR2,FGFR2,FGFR2,FGFR2,FGFR2,FGFR2,FGFR2,FGFR2 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_X770W,Missense_X681W exm860642 10 123256135 [A/G] NM_022970,NM_001144916,NM_001144914,NM_001144918,NM_000141,NM_001144917,NR_073009,NM_001144915,NM_023029,NM_001144913,NM_001144919 FGFR2,FGFR2,FGFR2,FGFR2,FGFR2,FGFR2,FGFR2,FGFR2,FGFR2,FGFR2,FGFR2 EXON Missense_R593C,Missense_R477C,Missense_R480C,Missense_R475C,Missense_R592C,Missense_R476C,Silent,Missense_R503C,Missense_R503C,Missense_R593C,Missense_R504C exm860651 10 123260460 [A/G] NM_022970,NM_001144916,NM_001144914,NM_001144918,NM_000141,NM_001144917,NR_073009,NM_001144915,NM_023029,NM_001144913,NM_001144919 FGFR2,FGFR2,FGFR2,FGFR2,FGFR2,FGFR2,FGFR2,FGFR2,FGFR2,FGFR2,FGFR2 EXON Synonymous_L482L,Synonymous_L366L,Synonymous_L369L,Synonymous_L364L,Synonymous_L481L,Synonymous_L365L,Silent,Synonymous_L392L,Synonymous_L392L,Synonymous_L482L,Synonymous_L393L exm860652 10 123263382 [A/G] NM_022970,NM_001144916,NM_001144914,NM_001144918,NM_000141,NM_001144917,NR_073009,NM_001144915,NM_023029,NM_001144913,NM_001144919 FGFR2,FGFR2,FGFR2,FGFR2,FGFR2,FGFR2,FGFR2,FGFR2,FGFR2,FGFR2,FGFR2 EXON Missense_T455M,Missense_T339M,Missense_T342M,Missense_T337M,Missense_T454M,Missense_T338M,Silent,Missense_T365M,Missense_T365M,Missense_T455M,Missense_T366M exm2249078 10 123279643 [T/C] NM_022970,NM_001144916,NM_001144914,NM_001144918,NM_000141,NM_001144917,NR_073009,NM_001144915,NM_023029,NM_001144913,NM_001144919 FGFR2,FGFR2,FGFR2,FGFR2,FGFR2,FGFR2,FGFR2,FGFR2,FGFR2,FGFR2,FGFR2 EXON Synonymous_P263P,Synonymous_P148P,Silent,Synonymous_P148P,Synonymous_P263P,Synonymous_P263P,Silent,Synonymous_P174P,Synonymous_P174P,Synonymous_P263P,Synonymous_P174P exm860694 10 123310860 [A/G] NM_022970,NM_001144916,NM_001144914,NM_001144918,NM_000141,NM_001144917,NR_073009,NM_001144915,NM_023029,NM_001144913,NM_001144919 FGFR2,FGFR2,FGFR2,FGFR2,FGFR2,FGFR2,FGFR2,FGFR2,FGFR2,FGFR2,FGFR2 EXON Missense_R190W,Missense_R75W,Missense_R190W,Missense_R75W,Missense_R190W,Missense_R190W,Silent,Missense_R101W,Missense_R101W,Missense_R190W,Missense_R101W exm860695 10 123310871 [A/G] NM_022970,NM_001144916,NM_001144914,NM_001144918,NM_000141,NM_001144917,NR_073009,NM_001144915,NM_023029,NM_001144913,NM_001144919 FGFR2,FGFR2,FGFR2,FGFR2,FGFR2,FGFR2,FGFR2,FGFR2,FGFR2,FGFR2,FGFR2 EXON Missense_M186T,Missense_M71T,Missense_M186T,Missense_M71T,Missense_M186T,Missense_M186T,Silent,Missense_M97T,Missense_M97T,Missense_M186T,Missense_M97T exm860716 10 123325158 [A/G] NM_022970,NM_001144916,NM_001144914,NM_001144918,NM_000141,NM_001144917,NR_073009,NM_001144915,NM_023029,NM_001144913,NM_001144919 FGFR2,FGFR2,FGFR2,FGFR2,FGFR2,FGFR2,FGFR2,FGFR2,FGFR2,FGFR2,FGFR2 EXON Missense_S57L,Silent,Missense_S57L,Silent,Missense_S57L,Missense_S57L,Silent,Silent,Silent,Missense_S57L,Silent exm-rs2981579 10 123337335 [A/G] NM_022970,NM_001144916,NM_001144914,NM_001144918,NM_000141,NM_001144917,NR_073009,NM_001144915,NM_023029,NM_001144913,NM_001144919 FGFR2,FGFR2,FGFR2,FGFR2,FGFR2,FGFR2,FGFR2,FGFR2,FGFR2,FGFR2,FGFR2 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm-rs2981575 10 123346116 [A/G] NM_022970,NM_001144916,NM_001144914,NM_001144918,NM_000141,NM_001144917,NR_073009,NM_001144915,NM_023029,NM_001144913,NM_001144919 FGFR2,FGFR2,FGFR2,FGFR2,FGFR2,FGFR2,FGFR2,FGFR2,FGFR2,FGFR2,FGFR2 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm-rs1219648 10 123346190 [A/G] NM_022970,NM_001144916,NM_001144914,NM_001144918,NM_000141,NM_001144917,NR_073009,NM_001144915,NM_023029,NM_001144913,NM_001144919 FGFR2,FGFR2,FGFR2,FGFR2,FGFR2,FGFR2,FGFR2,FGFR2,FGFR2,FGFR2,FGFR2 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm-rs2981582 10 123352317 [A/G] NM_022970,NM_001144916,NM_001144914,NM_001144918,NM_000141,NM_001144917,NR_073009,NM_001144915,NM_023029,NM_001144913,NM_001144919 FGFR2,FGFR2,FGFR2,FGFR2,FGFR2,FGFR2,FGFR2,FGFR2,FGFR2,FGFR2,FGFR2 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm860724 10 123353298 [T/C] NM_022970,NM_001144916,NM_001144914,NM_001144918,NM_000141,NM_001144917,NR_073009,NM_001144915,NM_023029,NM_001144913,NM_001144919 FGFR2,FGFR2,FGFR2,FGFR2,FGFR2,FGFR2,FGFR2,FGFR2,FGFR2,FGFR2,FGFR2 EXON Missense_V12M,Missense_V12M,Missense_V12M,Missense_V12M,Missense_V12M,Missense_V12M,Silent,Missense_V12M,Missense_V12M,Missense_V12M,Missense_V12M exm860726 10 123353309 [A/C] NM_022970,NM_001144916,NM_001144914,NM_001144918,NM_000141,NM_001144917,NR_073009,NM_001144915,NM_023029,NM_001144913,NM_001144919 FGFR2,FGFR2,FGFR2,FGFR2,FGFR2,FGFR2,FGFR2,FGFR2,FGFR2,FGFR2,FGFR2 EXON Missense_I8S,Missense_I8S,Missense_I8S,Missense_I8S,Missense_I8S,Missense_I8S,Silent,Missense_I8S,Missense_I8S,Missense_I8S,Missense_I8S exm2267135 10 123369542 [A/G] exm860736 10 123503272 [T/C] NM_007041,NM_001001976 ATE1,ATE1 EXON Missense_E494K,Missense_E494K exm860739 10 123503355 [A/G] NM_007041,NM_001001976 ATE1,ATE1 EXON Missense_T466M,Missense_T466M exm860748 10 123596282 [T/C] NM_007041,NM_001001976 ATE1,ATE1 EXON Missense_Y403C,Missense_Y403C exm-rs10510102 10 123625190 [T/C] NM_007041,NM_001001976 ATE1,ATE1 Silent,Silent exm860766 10 123658376 [T/C] NM_007041,NM_001001976 ATE1,ATE1 EXON Missense_D308N,Silent exm860781 10 123662106 [A/G] NM_007041,NM_001001976 ATE1,ATE1 EXON Missense_C205R,Missense_C205R exm860786 10 123670466 [T/C] NM_007041,NM_001001976 ATE1,ATE1 EXON Missense_G180S,Missense_G180S exm860791 10 123670546 [T/C] NM_007041,NM_001001976 ATE1,ATE1 EXON Missense_S153N,Missense_S153N exm860793 10 123670569 [T/A] NM_007041,NM_001001976 ATE1,ATE1 EXON Missense_D145E,Missense_D145E exm860811 10 123719026 [T/C] NM_017615,NM_001167865 NSMCE4A,NSMCE4A EXON Missense_R358H,Missense_R358H exm860817 10 123719887 [T/C] NM_017615,NM_001167865 NSMCE4A,NSMCE4A EXON Missense_R325Q,Missense_R325Q exm860830 10 123724863 [A/G] NM_017615,NM_001167865 NSMCE4A,NSMCE4A EXON Missense_P231S,Missense_P231S exm1673186 10 123724884 [T/C] NM_017615,NM_001167865 NSMCE4A,NSMCE4A EXON Missense_G224R,Missense_G224R exm860832 10 123724890 [A/T] NM_017615,NM_001167865 NSMCE4A,NSMCE4A EXON Missense_I222L,Missense_I222L exm860840 10 123727308 [T/C] NM_017615,NM_001167865 NSMCE4A,NSMCE4A EXON Missense_G172D,Missense_G172D exm860842 10 123730454 [T/C] NM_017615,NM_001167865 NSMCE4A,NSMCE4A EXON Synonymous_L167L,Synonymous_L167L exm860868 10 123809983 [A/G] NM_206862,NM_206861 TACC2,TACC2 EXON Missense_A22T,Missense_A22T exm860879 10 123842182 [A/G] NM_206862,NM_206861 TACC2,TACC2 EXON Missense_G56E,Silent exm860882 10 123842274 [A/G] NM_206862,NM_206861 TACC2,TACC2 EXON Missense_A87T,Silent exm860885 10 123842352 [T/A] NM_206862,NM_206861 TACC2,TACC2 EXON Missense_F113I,Silent exm860892 10 123842470 [T/C] NM_206862,NM_206861 TACC2,TACC2 EXON Missense_A152V,Silent exm860897 10 123842509 [A/G] NM_206862,NM_206861 TACC2,TACC2 EXON Missense_Q165R,Silent exm860900 10 123842523 [A/G] NM_206862,NM_206861 TACC2,TACC2 EXON Missense_V170I,Silent exm860908 10 123842755 [A/C] NM_206862,NM_206861 TACC2,TACC2 EXON Missense_Q247P,Silent exm860914 10 123842899 [T/C] NM_206862,NM_206861 TACC2,TACC2 EXON Missense_A295V,Silent exm860915 10 123842902 [T/C] NM_206862,NM_206861 TACC2,TACC2 EXON Missense_P296L,Silent exm860921 10 123843210 [A/G] NM_206862,NM_206861 TACC2,TACC2 EXON Missense_G399R,Silent exm860923 10 123843257 [C/G] NM_206862,NM_206861 TACC2,TACC2 EXON Missense_E414D,Silent exm860927 10 123843324 [T/C] NM_206862,NM_206861 TACC2,TACC2 EXON Missense_P437S,Silent exm860931 10 123843357 [T/G] NM_206862,NM_206861 TACC2,TACC2 EXON Missense_A448S,Silent exm1673217 10 123843379 [A/C] NM_206862,NM_206861 TACC2,TACC2 EXON Missense_D455A,Silent exm860934 10 123843411 [G/C] NM_206862,NM_206861 TACC2,TACC2 EXON Missense_V466L,Silent exm860938 10 123843523 [T/C] NM_206862,NM_206861 TACC2,TACC2 EXON Missense_T503M,Silent exm860944 10 123843775 [A/G] NM_206862,NM_206861 TACC2,TACC2 EXON Missense_D587G,Silent exm860945 10 123843778 [T/G] NM_206862,NM_206861 TACC2,TACC2 EXON Missense_G588V,Silent exm2216794 10 123843831 [T/C] NM_206862,NM_206861 TACC2,TACC2 EXON Missense_R606C,Silent exm860950 10 123843874 [A/G] NM_206862,NM_206861 TACC2,TACC2 EXON Missense_S620N,Silent exm860952 10 123843922 [T/C] NM_206862,NM_206861 TACC2,TACC2 EXON Missense_P636L,Silent exm860954 10 123843946 [T/C] NM_206862,NM_206861 TACC2,TACC2 EXON Missense_T644M,Silent exm860961 10 123844036 [G/C] NM_206862,NM_206861 TACC2,TACC2 EXON Missense_P674R,Silent exm860968 10 123844172 [T/G] NM_206862,NM_206861 TACC2,TACC2 EXON Missense_E719D,Silent exm860969 10 123844219 [T/C] NM_206862,NM_206861 TACC2,TACC2 EXON Missense_A735V,Silent exm860970 10 123844221 [G/C] NM_206862,NM_206861 TACC2,TACC2 EXON Missense_Q736E,Silent exm860973 10 123844296 [A/C] NM_206862,NM_206861 TACC2,TACC2 EXON Missense_Q761K,Silent exm860979 10 123844363 [A/G] NM_206862,NM_206861 TACC2,TACC2 EXON Missense_Q783R,Silent exm860986 10 123844444 [A/G] NM_206862,NM_206861 TACC2,TACC2 EXON Missense_G810E,Silent exm860988 10 123844473 [A/G] NM_206862,NM_206861 TACC2,TACC2 EXON Missense_E820K,Silent exm860989 10 123844503 [T/C] NM_206862,NM_206861 TACC2,TACC2 EXON Missense_L830F,Silent exm1673233 10 123844558 [A/G] NM_206862,NM_206861 TACC2,TACC2 EXON Missense_Q848R,Silent exm860998 10 123844643 [T/G] NM_206862,NM_206861 TACC2,TACC2 EXON Missense_H876Q,Silent exm861002 10 123844815 [T/G] NM_206862,NM_206861 TACC2,TACC2 EXON Missense_S934A,Silent exm861004 10 123844834 [A/G] NM_206862,NM_206861 TACC2,TACC2 EXON Missense_K940R,Silent exm861005 10 123844857 [T/C] NM_206862,NM_206861 TACC2,TACC2 EXON Missense_R948W,Silent exm861007 10 123844894 [A/G] NM_206862,NM_206861 TACC2,TACC2 EXON Missense_R960K,Silent exm861011 10 123844974 [C/G] NM_206862,NM_206861 TACC2,TACC2 EXON Missense_G987R,Silent exm861014 10 123845046 [T/C] NM_206862,NM_206861 TACC2,TACC2 EXON Missense_C1011R,Silent exm861015 10 123845064 [A/G] NM_206862,NM_206861 TACC2,TACC2 EXON Missense_A1017T,Silent exm861018 10 123845115 [A/G] NM_206862,NM_206861 TACC2,TACC2 EXON Missense_E1034K,Silent exm861019 10 123845149 [T/C] NM_206862,NM_206861 TACC2,TACC2 EXON Missense_P1045L,Silent exm861023 10 123845305 [A/G] NM_206862,NM_206861 TACC2,TACC2 EXON Missense_Q1097R,Silent exm861025 10 123845314 [T/G] NM_206862,NM_206861 TACC2,TACC2 EXON Missense_M1100R,Silent exm861026 10 123845322 [T/C] NM_206862,NM_206861 TACC2,TACC2 EXON Missense_W1103R,Silent exm2216797 10 123845389 [A/G] NM_206862,NM_206861 TACC2,TACC2 EXON Missense_G1125D,Silent exm861035 10 123845473 [A/C] NM_206862,NM_206861 TACC2,TACC2 EXON Missense_A1153D,Silent exm861042 10 123845597 [C/G] NM_206862,NM_206861 TACC2,TACC2 EXON Missense_L1194F,Silent exm861053 10 123845811 [A/G] NM_206862,NM_206861 TACC2,TACC2 EXON Missense_E1266K,Silent exm861054 10 123845826 [A/G] NM_206862,NM_206861 TACC2,TACC2 EXON Missense_V1271I,Silent exm861060 10 123845937 [A/C] NM_206862,NM_206861 TACC2,TACC2 EXON Missense_Q1308K,Silent exm861062 10 123845976 [C/G] NM_206862,NM_206861 TACC2,TACC2 EXON Missense_G1321R,Silent exm861075 10 123846190 [T/G] NM_206862,NM_206861 TACC2,TACC2 EXON Missense_V1392G,Silent exm861076 10 123846192 [A/G] NM_206862,NM_206861 TACC2,TACC2 EXON Missense_D1393N,Silent exm861080 10 123846252 [A/G] NM_206862,NM_206861 TACC2,TACC2 EXON Missense_A1413T,Silent exm861083 10 123846288 [A/G] NM_206862,NM_206861 TACC2,TACC2 EXON Missense_A1425T,Silent exm861087 10 123846421 [A/G] NM_206862,NM_206861 TACC2,TACC2 EXON Missense_R1469Q,Silent exm1673250 10 123846478 [T/C] NM_206862,NM_206861 TACC2,TACC2 EXON Missense_A1488V,Silent exm861092 10 123846490 [T/C] NM_206862,NM_206861 TACC2,TACC2 EXON Missense_P1492L,Silent exm861094 10 123846535 [A/G] NM_206862,NM_206861 TACC2,TACC2 EXON Missense_R1507Q,Silent exm861099 10 123846631 [A/C] NM_206862,NM_206861 TACC2,TACC2 EXON Missense_P1539Q,Silent exm861102 10 123846703 [G/C] NM_206862,NM_206861 TACC2,TACC2 EXON Missense_P1563R,Silent exm1673253 10 123846846 [A/G] NM_206862,NM_206861 TACC2,TACC2 EXON Missense_G1611R,Silent exm861110 10 123846864 [A/G] NM_206862,NM_206861 TACC2,TACC2 EXON Missense_D1617N,Silent exm861114 10 123846924 [T/C] NM_206862,NM_206861 TACC2,TACC2 EXON Nonsense_Q1637X,Silent exm861123 10 123847030 [A/G] NM_206862,NM_206861 TACC2,TACC2 EXON Missense_R1672Q,Silent exm861139 10 123847272 [G/C] NM_206862,NM_206861 TACC2,TACC2 EXON Missense_D1753H,Silent exm861146 10 123847452 [T/C] NM_206862,NM_206861 TACC2,TACC2 EXON Missense_P1813S,Silent exm861148 10 123848105 [A/G] NM_206862,NM_206861 TACC2,TACC2 EXON Missense_S1858G,Silent exm861151 10 123892155 [A/G] NM_206862,NM_206861 TACC2,TACC2 EXON Missense_A1869T,Missense_A60T exm861154 10 123892222 [A/G] NM_206862,NM_206861 TACC2,TACC2 EXON Missense_Q1891R,Missense_Q82R exm861160 10 123903133 [A/G] NM_206862,NM_206861 TACC2,TACC2 EXON Missense_E1916K,Silent exm861162 10 123903149 [T/C] NM_206862,NM_206861 TACC2,TACC2 EXON Missense_P1921L,Silent exm861167 10 123903203 [T/C] NM_206862,NM_206861 TACC2,TACC2 EXON Missense_P1939L,Silent exm861176 10 123954614 [T/C] NM_206862,NM_206861,NM_206860,NM_006997 TACC2,TACC2,TACC2,TACC2 EXON Missense_P1965L,Missense_P111L,Missense_P43L,Missense_P43L exm861178 10 123954638 [A/C] NM_206862,NM_206861,NM_206860,NM_006997 TACC2,TACC2,TACC2,TACC2 EXON Missense_P1973H,Missense_P119H,Missense_P51H,Missense_P51H exm861196 10 123970097 [A/G] NM_206862,NM_206861,NM_206860,NM_006997 TACC2,TACC2,TACC2,TACC2 EXON Missense_E2053K,Missense_E199K,Missense_E131K,Missense_E131K exm861200 10 123970166 [A/G] NM_206862,NM_206861,NM_206860,NM_006997 TACC2,TACC2,TACC2,TACC2 EXON Missense_V2076I,Missense_V222I,Missense_V154I,Missense_V154I exm861201 10 123970173 [T/C] NM_206862,NM_206861,NM_206860,NM_006997 TACC2,TACC2,TACC2,TACC2 EXON Missense_I2078T,Missense_I224T,Missense_I156T,Missense_I156T exm2216799 10 123970245 [A/G] NM_206862,NM_206861,NM_206860,NM_006997 TACC2,TACC2,TACC2,TACC2 EXON Missense_N2102S,Missense_N248S,Missense_N180S,Missense_N180S exm861203 10 123970253 [A/G] NM_206862,NM_206861,NM_206860,NM_006997 TACC2,TACC2,TACC2,TACC2 EXON Missense_A2105T,Missense_A251T,Missense_A183T,Missense_A183T exm861206 10 123970287 [A/G] NM_206862,NM_206861,NM_206860,NM_006997 TACC2,TACC2,TACC2,TACC2 EXON Missense_G2116D,Missense_G262D,Missense_G194D,Missense_G194D exm861208 10 123970338 [T/C] NM_206862,NM_206861,NM_206860,NM_006997 TACC2,TACC2,TACC2,TACC2 EXON Missense_P2133L,Missense_P279L,Missense_P211L,Missense_P211L exm861219 10 123970512 [T/C] NM_206862,NM_206861,NM_206860,NM_006997 TACC2,TACC2,TACC2,TACC2 EXON Missense_T2191M,Missense_T337M,Missense_T269M,Missense_T269M exm861227 10 123970565 [A/G] NM_206862,NM_206861,NM_206860,NM_006997 TACC2,TACC2,TACC2,TACC2 EXON Missense_S2209G,Missense_S355G,Missense_S287G,Missense_S287G exm861230 10 123970587 [T/C] NM_206862,NM_206861,NM_206860,NM_006997 TACC2,TACC2,TACC2,TACC2 EXON Missense_P2216L,Missense_P362L,Missense_P294L,Missense_P294L exm861244 10 123970722 [T/A] NM_206862,NM_206861,NM_206860,NM_006997 TACC2,TACC2,TACC2,TACC2 EXON Missense_L2261H,Missense_L407H,Missense_L339H,Missense_L339H exm2249080 10 123970726 [T/C] NM_206862,NM_206861,NM_206860,NM_006997 TACC2,TACC2,TACC2,TACC2 EXON Synonymous_S2262S,Synonymous_S408S,Synonymous_S340S,Synonymous_S340S exm861250 10 123970860 [T/C] NM_206862,NM_206861,NM_206860,NM_006997 TACC2,TACC2,TACC2,TACC2 EXON Missense_T2307I,Missense_T453I,Missense_T385I,Missense_T385I exm861273 10 123976160 [A/G] NM_206862,NM_206861,NM_206860,NM_006997 TACC2,TACC2,TACC2,TACC2 EXON Missense_T2455A,Missense_T601A,Missense_T533A,Missense_T533A exm861275 10 123976188 [T/C] NM_206862,NM_206861,NM_206860,NM_006997 TACC2,TACC2,TACC2,TACC2 EXON Missense_A2464V,Missense_A610V,Missense_A542V,Missense_A542V exm861280 10 123976247 [A/G] NM_206862,NM_206861,NM_206860,NM_006997 TACC2,TACC2,TACC2,TACC2 EXON Missense_M2484V,Missense_M630V,Missense_M562V,Missense_M562V exm1673308 10 123988894 [A/G] NM_206862,NM_206861,NM_206860,NM_006997 TACC2,TACC2,TACC2,TACC2 EXON Missense_A2644T,Missense_A790T,Missense_A722T,Missense_A722T exm861309 10 123988931 [C/G] NM_206862,NM_206861,NM_206860,NM_006997 TACC2,TACC2,TACC2,TACC2 EXON Missense_C2656S,Missense_C802S,Missense_C734S,Missense_C734S exm861318 10 123996934 [A/G] NM_206862,NM_206861,NM_206860,NM_006997 TACC2,TACC2,TACC2,TACC2 EXON Missense_V2718I,Missense_V864I,Missense_V766I,Missense_V796I exm861321 10 123996970 [A/G] NM_206862,NM_206861,NM_206860,NM_006997 TACC2,TACC2,TACC2,TACC2 EXON Missense_G2730R,Missense_G876R,Missense_G778R,Missense_G808R exm861322 10 123996976 [A/G] NM_206862,NM_206861,NM_206860,NM_006997 TACC2,TACC2,TACC2,TACC2 EXON Missense_A2732T,Missense_A878T,Missense_A780T,Missense_A810T exm861344 10 124008247 [A/G] NM_206862,NM_206861,NM_206860,NM_006997 TACC2,TACC2,TACC2,TACC2 EXON Missense_V2828M,Missense_V974M,Missense_V876M,Missense_V906M exm861354 10 124009124 [C/G] NM_206862,NM_206861,NM_206860,NM_006997 TACC2,TACC2,TACC2,TACC2 EXON Missense_S2909T,Missense_S1055T,Missense_S957T,Missense_S987T exm2273471 10 124013604 [A/C] NM_206862,NM_206861,NM_206860,NM_006997 TACC2,TACC2,TACC2,TACC2 EXON Silent,Silent,Silent,Silent exm2249081 10 124034528 [T/G] NM_144587 BTBD16 Silent exm1673324 10 124034607 [T/C] NM_144587 BTBD16 EXON Missense_S4L exm861363 10 124034613 [T/C] NM_144587 BTBD16 EXON Missense_T6M exm861369 10 124036327 [T/C] NM_144587 BTBD16 EXON Missense_R14W exm861370 10 124036328 [A/G] NM_144587 BTBD16 EXON Missense_R14Q exm861372 10 124036348 [T/C] NM_144587 BTBD16 EXON Missense_R21W exm861377 10 124043408 [C/G] NM_144587 BTBD16 EXON Missense_F70L exm-rs7098436 10 124043629 [T/C] NM_144587 BTBD16 Silent exm861383 10 124045686 [T/C] NM_144587 BTBD16 EXON Missense_T103I exm1673333 10 124050648 [G/C] NM_144587 BTBD16 EXON Missense_E177Q exm861409 10 124058549 [A/G] NM_144587 BTBD16 EXON Missense_E231K exm861415 10 124066712 [T/C] NM_144587 BTBD16 EXON Missense_T267I exm861424 10 124089024 [A/G] NM_144587 BTBD16 EXON Missense_R314Q exm861425 10 124089036 [A/G] NM_144587 BTBD16 EXON Missense_R318Q exm861429 10 124089075 [A/G] NM_144587 BTBD16 EXON Missense_G331D exm861432 10 124090711 [T/C] NM_144587 BTBD16 EXON Missense_R342W exm861437 10 124091964 [A/G] NM_144587 BTBD16 EXON Missense_G367D exm861442 10 124092002 [A/G] NM_144587 BTBD16 EXON Missense_V380M exm861451 10 124096014 [A/G] NM_144587 BTBD16 EXON Missense_I423M exm861457 10 124096061 [A/C] NM_144587 BTBD16 EXON Missense_H439P exm861461 10 124096076 [T/C] NM_144587 BTBD16 EXON Missense_A444V exm861467 10 124096123 [A/G] NM_144587 BTBD16 EXON Missense_G460S exm861471 10 124096160 [A/G] NM_144587 BTBD16 EXON Missense_Q472R exm861476 10 124097533 [T/C] NM_144587 BTBD16 EXON Missense_T485I exm-rs6585827 10 124165615 [A/G] NM_001001974,NM_001195608,NM_021622 PLEKHA1,PLEKHA1,PLEKHA1 Silent,Silent,Silent exm861495 10 124166131 [A/G] NM_001001974,NM_001195608,NM_021622 PLEKHA1,PLEKHA1,PLEKHA1 EXON Missense_N95S,Missense_N95S,Missense_N95S exm2274444 10 124175427 [A/G] NM_001001974,NM_001195608,NM_021622 PLEKHA1,PLEKHA1,PLEKHA1 EXON Missense_R174Q,Missense_R174Q,Missense_R174Q exm861538 10 124189146 [T/C] NM_001001974,NM_001195608,NM_021622 PLEKHA1,PLEKHA1,PLEKHA1 EXON Missense_P303S,Silent,Missense_P303S exm861540 10 124189170 [T/C] NM_001001974,NM_001195608,NM_021622 PLEKHA1,PLEKHA1,PLEKHA1 EXON Missense_H311Y,Silent,Missense_H311Y exm861542 10 124189197 [A/G] NM_001001974,NM_001195608,NM_021622 PLEKHA1,PLEKHA1,PLEKHA1 EXON Missense_T320A,Silent,Missense_T320A exm861556 10 124189424 [C/G] NM_001001974,NM_001195608,NM_021622 PLEKHA1,PLEKHA1,PLEKHA1 EXON Missense_D395E,Silent,Missense_D395E exm861558 10 124189438 [T/C] NM_001001974,NM_001195608,NM_021622 PLEKHA1,PLEKHA1,PLEKHA1 EXON Missense_P400L,Silent,Missense_P400L exm861562 10 124214251 [A/G] NM_001099667 ARMS2 EXON Missense_R3H exm861570 10 124214448 [T/G] NM_001099667 ARMS2 EXON Missense_A69S exm861571 10 124214479 [A/C] NM_001099667 ARMS2 EXON Missense_A79D exm-rs11200638 10 124220544 [A/G] exm861608 10 124266333 [T/C] NM_002775 HTRA1 EXON Nonsense_R302X exm861619 10 124268260 [T/C] NM_002775 HTRA1 EXON Missense_T365M exm861633 10 124273783 [A/G] NM_002775 HTRA1 EXON Missense_V451I exm861637 10 124320300 [A/C] NM_004406,NM_017579,NM_007329 DMBT1,DMBT1,DMBT1 EXON Missense_T5K,Missense_T5K,Missense_T5K exm861644 10 124325512 [A/G] NM_004406,NM_017579,NM_007329 DMBT1,DMBT1,DMBT1 EXON Missense_A31T,Missense_A31T,Missense_A31T exm861649 10 124329693 [T/C] NM_004406,NM_017579,NM_007329 DMBT1,DMBT1,DMBT1 EXON Missense_S36L,Missense_S36L,Missense_S36L exm861654 10 124330421 [C/G] NM_004406,NM_017579,NM_007329 DMBT1,DMBT1,DMBT1 EXON Missense_S52W,Missense_S52W,Missense_S52W exm861655 10 124330427 [T/C] NM_004406,NM_017579,NM_007329 DMBT1,DMBT1,DMBT1 EXON Missense_S54L,Missense_S54L,Missense_S54L exm861658 10 124331836 [T/C] NM_004406,NM_017579,NM_007329 DMBT1,DMBT1,DMBT1 EXON Missense_P65L,Missense_P65L,Missense_P65L exm861685 10 124336208 [A/C] NM_004406,NM_017579,NM_007329 DMBT1,DMBT1,DMBT1 EXON Missense_H193N,Missense_H193N,Missense_H193N exm861688 10 124337325 [A/G] NM_004406,NM_017579,NM_007329 DMBT1,DMBT1,DMBT1 Silent,Silent,Silent exm861791 10 124351013 [T/C] NM_004406,NM_017579,NM_007329 DMBT1,DMBT1,DMBT1 EXON Silent,Missense_T709M,Missense_T719M exm861823 10 124353109 [T/G] NM_004406,NM_017579,NM_007329 DMBT1,DMBT1,DMBT1 EXON Silent,Missense_S832I,Missense_S842I exm861831 10 124357488 [A/C] NM_004406,NM_017579,NM_007329 DMBT1,DMBT1,DMBT1 Silent,Silent,Silent exm861838 10 124357528 [A/G] NM_004406,NM_017579,NM_007329 DMBT1,DMBT1,DMBT1 EXON Missense_G487R,Missense_G976R,Missense_G986R exm861871 10 124359592 [A/G] NM_004406,NM_017579,NM_007329 DMBT1,DMBT1,DMBT1 EXON Missense_R599Q,Missense_R1088Q,Missense_R1098Q exm1673520 10 124376745 [T/C] NM_004406,NM_017579,NM_007329 DMBT1,DMBT1,DMBT1 EXON Synonymous_D863D,Synonymous_D1481D,Synonymous_D1491D exm861916 10 124379804 [A/G] NM_004406,NM_017579,NM_007329 DMBT1,DMBT1,DMBT1 EXON Missense_V1004I,Missense_V1622I,Missense_V1632I exm861929 10 124380836 [A/C] NM_004406,NM_017579,NM_007329 DMBT1,DMBT1,DMBT1 EXON Missense_H1093N,Missense_H1711N,Missense_H1721N exm861948 10 124389437 [A/G] NM_004406,NM_017579,NM_007329 DMBT1,DMBT1,DMBT1 EXON Missense_N1160S,Missense_N1778S,Missense_N1788S exm861951 10 124389857 [T/C] NM_004406,NM_017579,NM_007329 DMBT1,DMBT1,DMBT1 EXON Missense_S1202L,Missense_S1820L,Missense_S1830L exm861953 10 124389947 [T/G] NM_004406,NM_017579,NM_007329 DMBT1,DMBT1,DMBT1 EXON Missense_R1232L,Missense_R1850L,Missense_R1860L exm861955 10 124390005 [A/C] NM_004406,NM_017579,NM_007329 DMBT1,DMBT1,DMBT1 EXON Missense_S1251R,Missense_S1869R,Missense_S1879R exm861974 10 124390735 [A/G] NM_004406,NM_017579,NM_007329 DMBT1,DMBT1,DMBT1 EXON Missense_R1338Q,Missense_R1956Q,Missense_R1966Q exm861975 10 124390741 [A/G] NM_004406,NM_017579,NM_007329 DMBT1,DMBT1,DMBT1 EXON Missense_R1340Q,Missense_R1958Q,Missense_R1968Q exm861977 10 124390771 [A/G] NM_004406,NM_017579,NM_007329 DMBT1,DMBT1,DMBT1 EXON Missense_R1350H,Missense_R1968H,Missense_R1978H exm861979 10 124391388 [T/C] NM_004406,NM_017579,NM_007329 DMBT1,DMBT1,DMBT1 EXON Missense_P1365S,Missense_P1983S,Missense_P1993S exm861986 10 124392790 [T/G] NM_004406,NM_017579,NM_007329 DMBT1,DMBT1,DMBT1 EXON Missense_A1404S,Missense_A2022S,Missense_A2032S exm861988 10 124392811 [A/G] NM_004406,NM_017579,NM_007329 DMBT1,DMBT1,DMBT1 EXON Missense_E1411K,Missense_E2029K,Missense_E2039K exm861989 10 124392830 [A/G] NM_004406,NM_017579,NM_007329 DMBT1,DMBT1,DMBT1 EXON Missense_R1417H,Missense_R2035H,Missense_R2045H exm861992 10 124395511 [G/C] NM_004406,NM_017579,NM_007329 DMBT1,DMBT1,DMBT1 EXON Missense_E1428Q,Missense_E2046Q,Missense_E2056Q exm861994 10 124395560 [A/G] NM_004406,NM_017579,NM_007329 DMBT1,DMBT1,DMBT1 EXON Missense_R1444H,Missense_R2062H,Missense_R2072H exm862001 10 124395677 [A/G] NM_004406,NM_017579,NM_007329 DMBT1,DMBT1,DMBT1 EXON Missense_R1483Q,Missense_R2101Q,Missense_R2111Q exm862005 10 124396678 [T/A] NM_004406,NM_017579,NM_007329 DMBT1,DMBT1,DMBT1 EXON Missense_S1507R,Missense_S2125R,Missense_S2135R exm862012 10 124396760 [T/C] NM_004406,NM_017579,NM_007329 DMBT1,DMBT1,DMBT1 EXON Missense_R1535W,Missense_R2153W,Missense_R2163W exm862017 10 124399637 [T/C] NM_004406,NM_017579,NM_007329 DMBT1,DMBT1,DMBT1 EXON Missense_R1585C,Missense_R2203C,Missense_R2213C exm2249084 10 124399645 [T/C] NM_004406,NM_017579,NM_007329 DMBT1,DMBT1,DMBT1 EXON Synonymous_H1587H,Synonymous_H2205H,Synonymous_H2215H exm862024 10 124399763 [A/G] NM_004406,NM_017579,NM_007329 DMBT1,DMBT1,DMBT1 EXON Missense_V1627M,Missense_V2245M,Missense_V2255M exm1673563 10 124399809 [T/C] NM_004406,NM_017579,NM_007329 DMBT1,DMBT1,DMBT1 EXON Missense_T1642I,Missense_T2260I,Missense_T2270I exm862026 10 124399814 [T/C] NM_004406,NM_017579,NM_007329 DMBT1,DMBT1,DMBT1 EXON Missense_R1644C,Missense_R2262C,Missense_R2272C exm862049 10 124457340 [T/A] NM_001010912 C10orf120 EXON Missense_D306V exm862055 10 124457421 [A/T] NM_001010912 C10orf120 EXON Missense_L279Q exm862056 10 124457422 [T/G] NM_001010912 C10orf120 EXON Missense_L279I exm862060 10 124457452 [T/C] NM_001010912 C10orf120 EXON Missense_A269T exm862069 10 124457629 [A/G] NM_001010912 C10orf120 EXON Nonsense_R210X exm862070 10 124457650 [T/C] NM_001010912 C10orf120 EXON Missense_M203V exm862071 10 124457686 [A/G] NM_001010912 C10orf120 EXON Missense_R191C exm862074 10 124457767 [T/C] NM_001010912 C10orf120 EXON Missense_V164I exm862077 10 124457782 [A/G] NM_001010912 C10orf120 EXON Nonsense_R159X exm862089 10 124457969 [C/G] NM_001010912 C10orf120 EXON Missense_R96S exm862092 10 124458854 [A/G] NM_001010912 C10orf120 EXON Missense_L84P exm862095 10 124458903 [G/C] NM_001010912 C10orf120 EXON Missense_D68H exm862099 10 124459194 [T/G] NM_001010912 C10orf120 EXON Missense_S38Y exm862105 10 124459272 [A/G] NM_001010912 C10orf120 EXON Missense_I12T exm862111 10 124591832 [A/G] NR_037912,NM_022034,NR_037915 CUZD1,CUZD1,FAM24B-CUZD1 EXON Silent,Missense_R596W,Silent exm862120 10 124593194 [T/G] NR_037912,NM_022034,NR_037915 CUZD1,CUZD1,FAM24B-CUZD1 EXON Silent,Missense_N549H,Silent exm862121 10 124593202 [T/G] NR_037912,NM_022034,NR_037915 CUZD1,CUZD1,FAM24B-CUZD1 EXON Silent,Missense_A546E,Silent exm862123 10 124593214 [T/C] NR_037912,NM_022034,NR_037915 CUZD1,CUZD1,FAM24B-CUZD1 EXON Silent,Missense_R542K,Silent exm862124 10 124593223 [T/C] NR_037912,NM_022034,NR_037915 CUZD1,CUZD1,FAM24B-CUZD1 EXON Silent,Missense_R539H,Silent exm862129 10 124593307 [T/C] NR_037912,NM_022034,NR_037915 CUZD1,CUZD1,FAM24B-CUZD1 EXON Silent,Missense_R511H,Silent exm862131 10 124593350 [A/G] NR_037912,NM_022034,NR_037915 CUZD1,CUZD1,FAM24B-CUZD1 EXON Silent,Nonsense_Q497X,Silent exm862137 10 124594299 [G/C] NR_037912,NM_022034,NR_037915 CUZD1,CUZD1,FAM24B-CUZD1 EXON Silent,Missense_L435F,Silent exm862146 10 124595830 [A/G] NR_037912,NM_022034,NR_037915 CUZD1,CUZD1,FAM24B-CUZD1 EXON Silent,Missense_I285T,Silent exm862151 10 124596428 [T/C] NR_037912,NM_022034,NR_037915 CUZD1,CUZD1,FAM24B-CUZD1 EXON Silent,Missense_V246M,Silent exm862156 10 124596472 [T/C] NR_037912,NM_022034,NR_037915 CUZD1,CUZD1,FAM24B-CUZD1 EXON Silent,Missense_R231H,Silent exm862159 10 124596556 [A/C] NR_037912,NM_022034,NR_037915 CUZD1,CUZD1,FAM24B-CUZD1 EXON Silent,Missense_I203R,Silent exm862160 10 124596921 [A/G] NR_037912,NM_022034,NR_037915 CUZD1,CUZD1,FAM24B-CUZD1 EXON Silent,Missense_F200L,Silent exm862161 10 124597013 [T/C] NR_037912,NM_022034,NR_037915 CUZD1,CUZD1,FAM24B-CUZD1 EXON Silent,Missense_N169S,Silent exm862162 10 124597053 [T/C] NR_037912,NM_022034,NR_037915 CUZD1,CUZD1,FAM24B-CUZD1 EXON Silent,Missense_G156S,Silent exm862164 10 124598536 [T/C] NR_037912,NM_022034,NR_037915 CUZD1,CUZD1,FAM24B-CUZD1 EXON Silent,Missense_I149V,Silent exm862165 10 124598550 [T/A] NR_037912,NM_022034,NR_037915 CUZD1,CUZD1,FAM24B-CUZD1 EXON Silent,Missense_F144Y,Silent exm862174 10 124598694 [A/G] NR_037912,NM_022034,NR_037915 CUZD1,CUZD1,FAM24B-CUZD1 EXON Silent,Missense_T96I,Silent exm862184 10 124600764 [T/C] NR_037912,NM_022034,NR_037915 CUZD1,CUZD1,FAM24B-CUZD1 EXON Silent,Missense_S55G,Silent exm862185 10 124600798 [A/C] NR_037912,NM_022034,NR_037915 CUZD1,CUZD1,FAM24B-CUZD1 EXON Silent,Missense_E43D,Silent exm862186 10 124600834 [C/G] NR_037912,NM_022034,NR_037915 CUZD1,CUZD1,FAM24B-CUZD1 EXON Silent,Missense_S31R,Silent exm862189 10 124605299 [C/G] NR_037912,NM_022034,NR_037915 CUZD1,CUZD1,FAM24B-CUZD1 EXON Silent,Missense_L21V,Silent exm862192 10 124605357 [A/C] NR_037912,NM_022034,NR_037915 CUZD1,CUZD1,FAM24B-CUZD1 EXON Silent,Missense_M1I,Silent exm2267058 10 124606165 [A/G] NR_037915 FAM24B-CUZD1 Silent exm862196 10 124608914 [T/C] NR_037915,NM_001204364,NM_152644,NR_037911 FAM24B-CUZD1,FAM24B,FAM24B,FAM24B EXON Silent,Missense_N45S,Missense_N45S,Silent exm862207 10 124610027 [A/G] NR_037915,NM_001204364,NM_152644,NR_037911 FAM24B-CUZD1,FAM24B,FAM24B,FAM24B EXON Silent,Missense_P2L,Missense_P2L,Silent exm862208 10 124610029 [A/C] NR_037915,NM_001204364,NM_152644,NR_037911 FAM24B-CUZD1,FAM24B,FAM24B,FAM24B EXON Silent,Missense_M1I,Missense_M1I,Silent exm862221 10 124672351 [G/C] NM_001029888 FAM24A EXON Missense_Q67E exm862236 10 124692082 [T/C] NM_024942 C10orf88 EXON Missense_R400Q exm862247 10 124697236 [T/C] NM_024942 C10orf88 EXON Missense_R363H exm862249 10 124697270 [T/C] NM_024942 C10orf88 EXON Missense_E352K exm862250 10 124697272 [A/G] NM_024942 C10orf88 EXON Missense_T351I exm862257 10 124697497 [A/G] NM_024942 C10orf88 EXON Missense_I276T exm862258 10 124697498 [T/C] NM_024942 C10orf88 EXON Missense_I276V exm862264 10 124708208 [T/G] NM_024942 C10orf88 EXON Missense_P202H exm862265 10 124708272 [T/C] NM_024942 C10orf88 EXON Missense_G181R exm862267 10 124708356 [T/C] NM_024942 C10orf88 EXON Missense_E153K exm862270 10 124711499 [T/C] NM_024942 C10orf88 EXON Missense_E138K exm862283 10 124712522 [T/G] NM_024942 C10orf88 EXON Missense_N64T exm862299 10 124740113 [T/C] NM_153336 PSTK EXON Missense_H40Y exm862309 10 124742312 [A/G] NM_153336 PSTK EXON Missense_V94I exm862314 10 124742432 [A/T] NM_153336 PSTK EXON Missense_C134S exm862321 10 124742895 [G/C] NM_153336 PSTK EXON Missense_G206R exm862337 10 124746478 [C/G] NM_153336 PSTK EXON Missense_G293R exm862340 10 124746883 [A/T] NM_153336 PSTK EXON Missense_K304M exm862342 10 124746893 [T/G] NM_153336 PSTK EXON Missense_W307C exm862351 10 124753444 [A/G] NR_073475,NM_001271840,NR_073476,NR_073477,NR_073478,NR_073479 IKZF5,IKZF5,IKZF5,IKZF5,IKZF5,IKZF5 EXON Silent,Missense_M371T,Silent,Silent,Silent,Silent exm1673678 10 124753489 [A/G] NR_073475,NM_001271840,NR_073476,NR_073477,NR_073478,NR_073479 IKZF5,IKZF5,IKZF5,IKZF5,IKZF5,IKZF5 EXON Silent,Missense_P356L,Silent,Silent,Silent,Silent exm862376 10 124755534 [T/C] NR_073475,NM_001271840,NR_073476,NR_073477,NR_073478,NR_073479 IKZF5,IKZF5,IKZF5,IKZF5,IKZF5,IKZF5 EXON Silent,Missense_I98V,Silent,Silent,Silent,Silent exm862378 10 124755594 [A/G] NR_073475,NM_001271840,NR_073476,NR_073477,NR_073478,NR_073479 IKZF5,IKZF5,IKZF5,IKZF5,IKZF5,IKZF5 EXON Silent,Missense_F78L,Silent,Silent,Silent,Silent exm862385 10 124758094 [G/C] NR_073475,NM_001271840,NR_073476,NR_073477,NR_073478,NR_073479 IKZF5,IKZF5,IKZF5,IKZF5,IKZF5,IKZF5 EXON Silent,Missense_Q16H,Silent,Silent,Silent,Silent exm862386 10 124758126 [A/G] NR_073475,NM_001271840,NR_073476,NR_073477,NR_073478,NR_073479 IKZF5,IKZF5,IKZF5,IKZF5,IKZF5,IKZF5 EXON Silent,Missense_P6S,Silent,Silent,Silent,Silent exm862398 10 124793921 [A/G] NM_001609 ACADSB EXON Missense_H31R exm862400 10 124793986 [T/C] NM_001609 ACADSB EXON Missense_P53S exm862402 10 124794031 [T/G] NM_001609 ACADSB EXON Missense_V68F exm862404 10 124797364 [A/G] NM_001609 ACADSB Silent exm862410 10 124800121 [T/C] NM_001609 ACADSB EXON Missense_T148I exm862426 10 124802605 [T/C] NM_001609 ACADSB EXON Missense_P242L exm862434 10 124806770 [A/G] NM_001609 ACADSB EXON Missense_I316V exm862445 10 124812607 [A/G] NM_001609 ACADSB EXON Missense_E387K exm862446 10 124812634 [A/G] NM_001609 ACADSB EXON Missense_K396E exm862447 10 124812635 [A/C] NM_001609 ACADSB EXON Missense_K396T exm862448 10 124812642 [C/G] NM_001609 ACADSB EXON Nonsense_Y398X exm862483 10 124896640 [A/C] NM_001105574 HMX3 EXON Missense_P156Q exm862487 10 124896742 [A/G] NM_001105574 HMX3 EXON Missense_E190G exm862492 10 124896817 [A/G] NM_001105574 HMX3 EXON Missense_G215D exm862516 10 124909127 [A/G] NM_005519 HMX2 EXON Missense_E104K exm862521 10 124909177 [A/C] NM_005519 HMX2 EXON Missense_K120N exm862537 10 124909461 [T/C] NM_005519 HMX2 EXON Missense_A215V exm862540 10 124909482 [G/C] NM_005519 HMX2 EXON Missense_A222G exm862575 10 124922284 [G/C] NM_001007793,NM_004725 BUB3,BUB3 EXON Missense_T304R,Missense_T304R exm2267137 10 124942806 [A/G] exm2249087 10 125217896 [A/G] exm862600 10 125434366 [A/G] NM_153442 GPR26 EXON Missense_R234Q exm862614 10 125447665 [A/G] NM_153442 GPR26 EXON Missense_V335M exm862615 10 125447674 [T/G] NM_153442 GPR26 EXON Missense_X338G exm862620 10 125506302 [T/C] NM_198148 CPXM2 EXON Missense_Q750R exm862622 10 125506320 [C/G] NM_198148 CPXM2 EXON Missense_R744P exm862623 10 125506329 [A/G] NM_198148 CPXM2 EXON Missense_P741L exm862625 10 125506394 [C/G] NM_198148 CPXM2 EXON Missense_S719R exm862632 10 125514185 [A/G] NM_198148 CPXM2 EXON Nonsense_R671X exm862635 10 125514212 [A/G] NM_198148 CPXM2 EXON Missense_S662P exm862638 10 125516743 [T/C] NM_198148 CPXM2 EXON Missense_V635M exm862643 10 125516815 [A/C] NM_198148 CPXM2 EXON Missense_V611L exm862647 10 125521390 [C/G] NM_198148 CPXM2 EXON Missense_G592A exm862651 10 125521435 [T/C] NM_198148 CPXM2 EXON Missense_K577R exm862655 10 125521520 [A/G] NM_198148 CPXM2 EXON Missense_R549C exm1673778 10 125521558 [A/G] NM_198148 CPXM2 EXON Missense_T536M exm862671 10 125526490 [A/G] NM_198148 CPXM2 EXON Missense_T493M exm862673 10 125526529 [T/C] NM_198148 CPXM2 EXON Missense_Y480C exm1673784 10 125526562 [T/C] NM_198148 CPXM2 EXON Missense_R469Q exm862680 10 125526607 [T/C] NM_198148 CPXM2 EXON Missense_N454S exm2216824 10 125528068 [C/G] NM_198148 CPXM2 EXON Missense_D425H exm862691 10 125528097 [T/C] NM_198148 CPXM2 EXON Missense_R415Q exm862699 10 125528214 [A/G] NM_198148 CPXM2 EXON Missense_A376V exm2276967 10 125530440 [T/C] NM_198148 CPXM2 EXON Missense_H365R exm862713 10 125557567 [A/G] NM_198148 CPXM2 EXON Missense_R272C exm862716 10 125557591 [T/C] NM_198148 CPXM2 EXON Missense_V264I exm862723 10 125601907 [T/C] NM_198148 CPXM2 EXON Missense_R204K exm862732 10 125601980 [A/G] NM_198148 CPXM2 EXON Missense_Y180H exm2249089 10 125602002 [T/C] NM_198148 CPXM2 EXON Synonymous_A172A exm862734 10 125602002 [T/C] NM_198148 CPXM2 EXON Synonymous_A172A exm862735 10 125602003 [A/G] NM_198148 CPXM2 EXON Missense_A172V exm862739 10 125622179 [A/G] NM_198148 CPXM2 EXON Missense_T155M exm862741 10 125639744 [T/C] NM_198148 CPXM2 EXON Missense_R129H exm862742 10 125639754 [A/G] NM_198148 CPXM2 EXON Missense_R126C exm862751 10 125651063 [T/C] NM_198148 CPXM2 EXON Missense_Q38R exm2271361 10 125665080 [T/G] exm862761 10 125769672 [A/G] NM_015892,NM_001270764 CHST15,CHST15 EXON Missense_T560M,Missense_T560M exm862774 10 125780647 [A/G] NM_015892,NM_001270764,NM_014863,NM_001270765 CHST15,CHST15,CHST15,CHST15 EXON Silent,Silent,Missense_M491T,Missense_M491T exm2216828 10 125780699 [T/C] NM_015892,NM_001270764,NM_014863,NM_001270765 CHST15,CHST15,CHST15,CHST15 EXON Silent,Silent,Missense_S474G,Missense_S474G exm862777 10 125780759 [G/C] NM_015892,NM_001270764,NM_014863,NM_001270765 CHST15,CHST15,CHST15,CHST15 EXON Silent,Silent,Missense_P454A,Missense_P454A exm862779 10 125780762 [G/C] NM_015892,NM_001270764,NM_014863,NM_001270765 CHST15,CHST15,CHST15,CHST15 EXON Silent,Silent,Missense_P453A,Missense_P453A exm862792 10 125798124 [A/G] NM_015892,NM_001270764,NM_014863,NM_001270765 CHST15,CHST15,CHST15,CHST15 EXON Missense_T366M,Missense_T366M,Missense_T366M,Missense_T366M exm862815 10 125804326 [A/G] NM_015892,NM_001270764,NM_014863,NM_001270765 CHST15,CHST15,CHST15,CHST15 EXON Missense_V219A,Missense_V219A,Missense_V219A,Missense_V219A exm862825 10 125805271 [T/C] NM_015892,NM_001270764,NM_014863,NM_001270765 CHST15,CHST15,CHST15,CHST15 EXON Missense_K153R,Missense_K153R,Missense_K153R,Missense_K153R exm862834 10 125805482 [T/C] NM_015892,NM_001270764,NM_014863,NM_001270765 CHST15,CHST15,CHST15,CHST15 EXON Missense_V83I,Missense_V83I,Missense_V83I,Missense_V83I exm1673836 10 125805505 [T/C] NM_015892,NM_001270764,NM_014863,NM_001270765 CHST15,CHST15,CHST15,CHST15 EXON Missense_K75R,Missense_K75R,Missense_K75R,Missense_K75R exm862841 10 125805592 [T/C] NM_015892,NM_001270764,NM_014863,NM_001270765 CHST15,CHST15,CHST15,CHST15 EXON Missense_R46H,Missense_R46H,Missense_R46H,Missense_R46H exm862842 10 125805593 [A/G] NM_015892,NM_001270764,NM_014863,NM_001270765 CHST15,CHST15,CHST15,CHST15 EXON Missense_R46C,Missense_R46C,Missense_R46C,Missense_R46C exm862844 10 125805631 [A/G] NM_015892,NM_001270764,NM_014863,NM_001270765 CHST15,CHST15,CHST15,CHST15 EXON Missense_A33V,Missense_A33V,Missense_A33V,Missense_A33V exm862846 10 125805641 [T/C] NM_015892,NM_001270764,NM_014863,NM_001270765 CHST15,CHST15,CHST15,CHST15 EXON Missense_G30S,Missense_G30S,Missense_G30S,Missense_G30S exm862848 10 125805683 [T/C] NM_015892,NM_001270764,NM_014863,NM_001270765 CHST15,CHST15,CHST15,CHST15 EXON Missense_A16T,Missense_A16T,Missense_A16T,Missense_A16T exm2267138 10 126031899 [A/G] exm862851 10 126086520 [A/C] NM_000274,NM_001171814 OAT,OAT EXON Missense_L437F,Missense_L299F exm862853 10 126086531 [T/C] NM_000274,NM_001171814 OAT,OAT EXON Missense_K434E,Missense_K296E exm862854 10 126086540 [T/C] NM_000274,NM_001171814 OAT,OAT EXON Missense_I431V,Missense_I293V exm862860 10 126086623 [A/G] NM_000274,NM_001171814 OAT,OAT EXON Missense_L403P,Missense_L265P exm1673846 10 126086626 [A/G] NM_000274,NM_001171814 OAT,OAT EXON Missense_L402P,Missense_L264P exm862890 10 126092398 [A/G] NM_000274,NM_001171814 OAT,OAT EXON Missense_M247T,Missense_M109T exm862896 10 126094107 [A/C] NM_000274,NM_001171814 OAT,OAT EXON Missense_L182F,Missense_L44F exm862899 10 126097153 [T/C] NM_000274,NM_001171814 OAT,OAT EXON Missense_V160M,Missense_V22M exm2216834 10 126097420 [A/G] NM_000274,NM_001171814 OAT,OAT EXON Missense_V105A,Silent exm862911 10 126100634 [G/C] NM_000274,NM_001171814 OAT,OAT EXON Missense_G36A,Silent exm862922 10 126136119 [T/G] NM_001146340 NKX1-2 EXON Missense_A271E exm862924 10 126136155 [A/C] NM_001146340 NKX1-2 EXON Missense_G259V exm862940 10 126138473 [A/G] NM_001146340 NKX1-2 EXON Missense_S14P exm862954 10 126172721 [T/C] NM_022126,NM_001167880 LHPP,LHPP EXON Missense_R47W,Missense_R47W exm862955 10 126172722 [A/G] NM_022126,NM_001167880 LHPP,LHPP EXON Missense_R47Q,Missense_R47Q exm862959 10 126172791 [A/G] NM_022126,NM_001167880 LHPP,LHPP EXON Missense_R70K,Missense_R70K exm862966 10 126172863 [A/G] NM_022126,NM_001167880 LHPP,LHPP EXON Missense_Q94R,Missense_Q94R exm862968 10 126172872 [A/G] NM_022126,NM_001167880 LHPP,LHPP EXON Missense_R97Q,Missense_R97Q exm862969 10 126172895 [A/G] NM_022126,NM_001167880 LHPP,LHPP EXON Missense_G105R,Missense_G105R exm862973 10 126177017 [A/G] NM_022126,NM_001167880 LHPP,LHPP EXON Missense_D114N,Missense_D114N exm862977 10 126177097 [C/G] NM_022126,NM_001167880 LHPP,LHPP EXON Missense_Q140H,Missense_Q140H exm862979 10 126185530 [T/G] NM_022126,NM_001167880 LHPP,LHPP EXON Synonymous_G156G,Synonymous_G156G exm1673880 10 126185531 [T/C] NM_022126,NM_001167880 LHPP,LHPP EXON Missense_R157C,Missense_R157C exm862983 10 126186626 [A/G] NM_022126,NM_001167880 LHPP,LHPP EXON Missense_E185K,Missense_E185K exm2267060 10 126198131 [A/G] NM_022126,NM_001167880 LHPP,LHPP Silent,Silent exm862989 10 126205767 [A/G] NM_022126,NM_001167880 LHPP,LHPP EXON Missense_D215N,Silent exm862990 10 126205773 [A/G] NM_022126,NM_001167880 LHPP,LHPP EXON Missense_V217M,Silent exm863013 10 126311875 [A/G] NM_014661 FAM53B EXON Missense_A402V exm863023 10 126311908 [A/G] NM_014661 FAM53B EXON Missense_A391V exm863024 10 126311912 [T/C] NM_014661 FAM53B EXON Missense_R390G exm863026 10 126311927 [T/C] NM_014661 FAM53B EXON Missense_E385K exm1673906 10 126311984 [C/G] NM_014661 FAM53B EXON Missense_H366D exm863035 10 126312101 [G/C] NM_014661 FAM53B EXON Missense_A327P exm863048 10 126370286 [T/A] NM_014661 FAM53B EXON Missense_S266C exm1673912 10 126370390 [T/C] NM_014661 FAM53B EXON Missense_C231Y exm863055 10 126370474 [A/G] NM_014661 FAM53B EXON Missense_P203L exm863058 10 126370517 [C/G] NM_014661 FAM53B EXON Missense_R189G exm1673926 10 126395213 [A/G] NM_014661 FAM53B EXON Missense_R24C exm863120 10 126463282 [T/C] NM_212554 METTL10 EXON Missense_I121V exm863126 10 126477703 [T/C] NM_212554 METTL10 EXON Missense_R67Q exm863129 10 126478869 [T/C] NM_212554 METTL10 EXON Missense_R50Q exm863131 10 126478899 [A/G] NM_212554 METTL10 EXON Missense_A40V exm863151 10 126515249 [A/G] NM_032182 FAM175B EXON Missense_R118H exm863155 10 126515287 [A/G] NM_032182 FAM175B EXON Missense_S131G exm2249092 10 126523138 [T/G] NM_032182 FAM175B EXON Synonymous_R282R exm863170 10 126523143 [T/C] NM_032182 FAM175B EXON Missense_P284L exm863175 10 126523268 [A/G] NM_032182 FAM175B EXON Missense_E326K exm863183 10 126523412 [A/G] NM_032182 FAM175B EXON Missense_D374N exm863193 10 126631207 [A/G] NM_017580 ZRANB1 EXON Missense_V49I exm863201 10 126631517 [A/G] NM_017580 ZRANB1 EXON Missense_H152R exm863202 10 126631562 [A/C] NM_017580 ZRANB1 EXON Missense_K167T exm863263 10 126678241 [C/G] NM_001083914,NM_001329,NM_022802 CTBP2,CTBP2,CTBP2 EXON Missense_A395G,Missense_A395G,Missense_A935G exm863265 10 126678251 [A/C] NM_001083914,NM_001329,NM_022802 CTBP2,CTBP2,CTBP2 EXON Missense_V392L,Missense_V392L,Missense_V932L exm863285 10 126681884 [A/G] NM_001083914,NM_001329,NM_022802 CTBP2,CTBP2,CTBP2 EXON Missense_P309L,Missense_P309L,Missense_P849L exm-rs4962416 10 126696872 [T/C] NM_001083914,NM_001329,NM_022802 CTBP2,CTBP2,CTBP2 Silent,Silent,Silent exm863389 10 126714698 [C/G] NM_001083914,NM_001329,NM_022802 CTBP2,CTBP2,CTBP2 EXON Silent,Silent,Missense_R544P exm863393 10 126714714 [C/G] NM_001083914,NM_001329,NM_022802 CTBP2,CTBP2,CTBP2 EXON Silent,Silent,Missense_Q539E exm863414 10 126714966 [A/G] NM_001083914,NM_001329,NM_022802 CTBP2,CTBP2,CTBP2 EXON Silent,Silent,Missense_Y455H exm863416 10 126714980 [T/C] NM_001083914,NM_001329,NM_022802 CTBP2,CTBP2,CTBP2 EXON Silent,Silent,Missense_R450H exm863427 10 126715091 [T/G] NM_001083914,NM_001329,NM_022802 CTBP2,CTBP2,CTBP2 EXON Silent,Silent,Missense_H413P exm863432 10 126715125 [A/G] NM_001083914,NM_001329,NM_022802 CTBP2,CTBP2,CTBP2 EXON Silent,Silent,Missense_P402S exm863433 10 126715136 [A/C] NM_001083914,NM_001329,NM_022802 CTBP2,CTBP2,CTBP2 EXON Silent,Silent,Missense_R398L exm863434 10 126715140 [G/C] NM_001083914,NM_001329,NM_022802 CTBP2,CTBP2,CTBP2 EXON Silent,Silent,Missense_P397A exm863447 10 126715298 [T/C] NM_001083914,NM_001329,NM_022802 CTBP2,CTBP2,CTBP2 EXON Silent,Silent,Missense_R344H exm863450 10 126715349 [A/G] NM_001083914,NM_001329,NM_022802 CTBP2,CTBP2,CTBP2 EXON Silent,Silent,Missense_A327V exm863454 10 126715436 [T/C] NM_001083914,NM_001329,NM_022802 CTBP2,CTBP2,CTBP2 EXON Silent,Silent,Missense_R298Q exm863459 10 126715466 [A/G] NM_001083914,NM_001329,NM_022802 CTBP2,CTBP2,CTBP2 EXON Silent,Silent,Missense_T288I exm863464 10 126715548 [A/G] NM_001083914,NM_001329,NM_022802 CTBP2,CTBP2,CTBP2 EXON Silent,Silent,Missense_R261W exm863471 10 126715629 [T/C] NM_001083914,NM_001329,NM_022802 CTBP2,CTBP2,CTBP2 EXON Silent,Silent,Missense_V234M exm863476 10 126715692 [T/C] NM_001083914,NM_001329,NM_022802 CTBP2,CTBP2,CTBP2 EXON Silent,Silent,Missense_D213N exm863482 10 126715766 [T/C] NM_001083914,NM_001329,NM_022802 CTBP2,CTBP2,CTBP2 EXON Silent,Silent,Missense_R188Q exm863489 10 126715820 [T/C] NM_001083914,NM_001329,NM_022802 CTBP2,CTBP2,CTBP2 EXON Silent,Silent,Missense_G170D exm863492 10 126715848 [T/C] NM_001083914,NM_001329,NM_022802 CTBP2,CTBP2,CTBP2 EXON Silent,Silent,Missense_A161T exm863495 10 126715878 [T/C] NM_001083914,NM_001329,NM_022802 CTBP2,CTBP2,CTBP2 EXON Silent,Silent,Missense_M151V exm863503 10 126715970 [A/T] NM_001083914,NM_001329,NM_022802 CTBP2,CTBP2,CTBP2 EXON Silent,Silent,Missense_V120E exm1674027 10 126715971 [T/C] NM_001083914,NM_001329,NM_022802 CTBP2,CTBP2,CTBP2 EXON Silent,Silent,Missense_V120I exm863511 10 126716108 [C/G] NM_001083914,NM_001329,NM_022802 CTBP2,CTBP2,CTBP2 EXON Silent,Silent,Missense_A74G exm863513 10 126716115 [A/G] NM_001083914,NM_001329,NM_022802 CTBP2,CTBP2,CTBP2 EXON Silent,Silent,Missense_R72W exm863518 10 126716172 [A/G] NM_001083914,NM_001329,NM_022802 CTBP2,CTBP2,CTBP2 EXON Silent,Silent,Missense_P53S exm2271362 10 126719704 [T/C] NM_001083914,NM_001329 CTBP2,CTBP2 Silent,Silent exm2259543 10 127197908 [T/C] exm2249094 10 127280307 [A/G] exm-rs9422897 10 127296145 [T/G] exm863535 10 127344489 [T/C] NM_001128202 TEX36 EXON Missense_V181I exm2274446 10 127350482 [A/G] NM_001128202 TEX36 EXON Missense_P39L exm863548 10 127350519 [T/C] NM_001128202 TEX36 EXON Missense_T27A exm863549 10 127350536 [T/A] NM_001128202 TEX36 EXON Missense_I21N exm-rs9422917 10 127352628 [T/C] NM_001128202 TEX36 Silent exm863550 10 127371543 [A/G] NM_001128202 TEX36 EXON Missense_R6C exm863556 10 127408432 [A/G] NM_001202438,NM_015608 C10orf137,C10orf137 EXON Missense_R19Q,Missense_R19Q exm863574 10 127414256 [A/G] NM_001202438,NM_015608 C10orf137,C10orf137 EXON Missense_N214S,Missense_N214S exm863585 10 127417581 [T/C] NM_001202438,NM_015608 C10orf137,C10orf137 EXON Missense_P268S,Silent exm863604 10 127422263 [C/G] NM_001202438,NM_015608 C10orf137,C10orf137 EXON Missense_D446H,Missense_D412H exm863616 10 127424345 [A/G] NM_001202438,NM_015608 C10orf137,C10orf137 EXON Missense_D544N,Missense_D510N exm2249095 10 127431839 [A/C] NM_001202438,NM_015608 C10orf137,C10orf137 EXON Synonymous_R862R,Synonymous_R828R exm1674082 10 127431839 [A/C] NM_001202438,NM_015608 C10orf137,C10orf137 EXON Synonymous_R862R,Synonymous_R828R exm863648 10 127434383 [A/G] NM_001202438,NM_015608 C10orf137,C10orf137 EXON Missense_A900T,Missense_A866T exm863657 10 127436105 [T/G] NM_001202438,NM_015608 C10orf137,C10orf137 EXON Missense_A939S,Missense_A905S exm863673 10 127441421 [A/G] NM_001202438,NM_015608 C10orf137,C10orf137 EXON Missense_M1111V,Missense_M1077V exm863675 10 127441439 [A/G] NM_001202438,NM_015608 C10orf137,C10orf137 EXON Missense_A1117T,Missense_A1083T exm2216851 10 127451982 [A/G] NM_001202438,NM_015608 C10orf137,C10orf137 EXON Missense_V1220I,Missense_V1186I exm863691 10 127455290 [A/G] NM_147191 MMP21 EXON Missense_F551L exm863695 10 127455497 [A/G] NM_147191 MMP21 EXON Missense_L482F exm863696 10 127455509 [T/C] NM_147191 MMP21 EXON Missense_R478G exm863698 10 127456130 [T/C] NM_147191 MMP21 EXON Missense_K461E exm863700 10 127456139 [A/G] NM_147191 MMP21 EXON Nonsense_R458X exm863701 10 127456150 [A/G] NM_147191 MMP21 EXON Missense_A454V exm863708 10 127458937 [T/C] NM_147191 MMP21 EXON Nonsense_W401X exm863716 10 127459094 [T/C] NM_147191 MMP21 EXON Missense_E349G exm2249096 10 127460875 [T/C] NM_147191 MMP21 EXON Synonymous_T297T exm863726 10 127460876 [A/G] NM_147191 MMP21 EXON Missense_T297M exm2216852 10 127462456 [T/C] NM_147191 MMP21 EXON Missense_R214H exm863748 10 127462525 [A/G] NM_147191 MMP21 EXON Missense_V191A exm863757 10 127462934 [A/G] NM_147191 MMP21 EXON Missense_R55W exm863762 10 127464290 [A/G] NM_147191 MMP21 EXON Missense_S34L exm863766 10 127477448 [T/C] NM_000375 UROS EXON Missense_G263S exm863768 10 127477484 [C/G] NM_000375 UROS EXON Missense_L251V exm2274447 10 127477495 [A/G] NM_000375 UROS EXON Missense_T247M exm863772 10 127477535 [T/C] NM_000375 UROS EXON Missense_A234T exm863787 10 127484721 [A/C] NM_000375 UROS EXON Missense_V171G exm863802 10 127503630 [A/G] NM_000375 UROS EXON Missense_C73R exm863814 10 127512136 [A/G] NM_016567,NM_078469,NM_078468 BCCIP,BCCIP,BCCIP EXON Missense_R4G,Missense_R4G,Missense_R4G exm863815 10 127512145 [C/G] NM_016567,NM_078469,NM_078468 BCCIP,BCCIP,BCCIP EXON Missense_R7G,Missense_R7G,Missense_R7G exm1674157 10 127512179 [A/C] NM_016567,NM_078469,NM_078468 BCCIP,BCCIP,BCCIP EXON Missense_P18Q,Missense_P18Q,Missense_P18Q exm863819 10 127512202 [A/G] NM_016567,NM_078469,NM_078468 BCCIP,BCCIP,BCCIP EXON Missense_E26K,Missense_E26K,Missense_E26K exm863822 10 127512214 [A/G] NM_016567,NM_078469,NM_078468 BCCIP,BCCIP,BCCIP EXON Missense_K30E,Missense_K30E,Missense_K30E exm863823 10 127512232 [A/G] NM_016567,NM_078469,NM_078468 BCCIP,BCCIP,BCCIP EXON Missense_D36N,Missense_D36N,Missense_D36N exm1674160 10 127512283 [A/G] NM_016567,NM_078469,NM_078468 BCCIP,BCCIP,BCCIP EXON Missense_I53V,Missense_I53V,Missense_I53V exm863829 10 127515197 [T/A] NM_016567,NM_078469,NM_078468 BCCIP,BCCIP,BCCIP EXON Missense_D68V,Missense_D68V,Missense_D68V exm863830 10 127515199 [A/G] NM_016567,NM_078469,NM_078468 BCCIP,BCCIP,BCCIP EXON Missense_N69D,Missense_N69D,Missense_N69D exm863841 10 127520029 [A/G] NM_016567,NM_078469,NM_078468 BCCIP,BCCIP,BCCIP EXON Missense_R151H,Missense_R151H,Missense_R151H exm863844 10 127520177 [A/G] NM_016567,NM_078469,NM_078468 BCCIP,BCCIP,BCCIP Silent,Silent,Silent exm863848 10 127522465 [A/C] NM_016567,NM_078469,NM_078468 BCCIP,BCCIP,BCCIP EXON Missense_K242Q,Missense_K242Q,Missense_K242Q exm863850 10 127522475 [T/C] NM_016567,NM_078469,NM_078468 BCCIP,BCCIP,BCCIP EXON Missense_A245V,Missense_A245V,Missense_A245V exm863854 10 127524761 [T/C] NM_016567,NM_078469,NM_078468 BCCIP,BCCIP,BCCIP EXON Silent,Silent,Missense_T288M exm863884 10 127529524 [G/C] NM_016567,NM_078469,NM_018180 BCCIP,BCCIP,DHX32 EXON Silent,Silent,Missense_A529P exm863887 10 127529885 [T/C] NM_016567,NM_078469,NM_018180 BCCIP,BCCIP,DHX32 EXON Missense_P279L,Missense_P279L,Silent exm863897 10 127540869 [A/G] NM_016567,NM_018180 BCCIP,DHX32 EXON Silent,Synonymous_N448N exm863900 10 127540897 [A/G] NM_016567,NM_018180 BCCIP,DHX32 EXON Silent,Missense_A439V exm863901 10 127540925 [C/G] NM_016567,NM_018180 BCCIP,DHX32 EXON Silent,Missense_V430L exm863913 10 127542720 [T/G] NM_018180 DHX32 EXON Missense_D301A exm863914 10 127542732 [T/A] NM_018180 DHX32 EXON Missense_N297I exm2216854 10 127542753 [T/G] NM_018180 DHX32 EXON Missense_E290A exm863919 10 127548215 [A/G] NM_018180 DHX32 EXON Missense_S269L exm863922 10 127548240 [A/G] NM_018180 DHX32 EXON Missense_R261C exm1674190 10 127548304 [A/C] NM_018180 DHX32 EXON Missense_N239K exm863933 10 127548544 [T/C] NM_018180 DHX32 EXON Synonymous_R159R exm863943 10 127555701 [T/C] NM_018180 DHX32 EXON Missense_G112S exm863946 10 127569117 [T/C] NM_018180 DHX32 EXON Missense_A93T exm863951 10 127569228 [G/C] NM_018180 DHX32 EXON Missense_L56V exm863954 10 127569286 [G/C] NM_018180 DHX32 EXON Missense_E36D exm863957 10 127569348 [A/G] NM_018180 DHX32 EXON Missense_R16C exm863990 10 127668744 [T/A] NM_145235 FANK1 EXON Missense_S10T exm863991 10 127668751 [T/C] NM_145235 FANK1 EXON Missense_P12L exm863993 10 127668854 [G/C] NM_145235 FANK1 EXON Missense_R46S exm863997 10 127668907 [T/C] NM_145235 FANK1 EXON Missense_T64M exm864004 10 127677179 [A/G] NM_145235 FANK1 EXON Missense_R84H exm864006 10 127677195 [C/G] NM_145235 FANK1 EXON Missense_S89R exm1674214 10 127683986 [A/G] NM_145235 FANK1 EXON Missense_R106K exm864018 10 127685120 [T/C] NM_145235 FANK1 EXON Missense_R134C exm864022 10 127685987 [A/G] NM_145235 FANK1 Silent exm864023 10 127686001 [C/G] NM_145235 FANK1 EXON Missense_I162M exm864031 10 127693470 [A/G] NM_145235 FANK1 EXON Missense_Y186C exm864042 10 127697001 [A/G] NM_145235 FANK1 EXON Missense_G244E exm864047 10 127697689 [T/G] NM_145235 FANK1 EXON Missense_V306L exm864052 10 127697819 [A/G] NM_145235 FANK1 EXON Missense_R319K exm864061 10 127697997 [T/G] NM_145235 FANK1 EXON Missense_C343F exm864066 10 127705873 [A/G] NM_003474 ADAM12 EXON Missense_S902F exm864068 10 127708268 [C/G] NM_003474 ADAM12 EXON Missense_L889V exm864069 10 127708271 [A/G] NM_003474 ADAM12 EXON Missense_P888S exm864087 10 127724892 [C/G] NM_003474 ADAM12 EXON Missense_D787E exm864093 10 127726910 [T/C] NM_003474 ADAM12 EXON Missense_R753H exm864095 10 127727888 [T/C] NM_003474 ADAM12 EXON Missense_K742E exm864097 10 127727905 [T/C] NM_003474 ADAM12 EXON Missense_R736Q exm864110 10 127730766 [T/C] NM_003474,NM_021641 ADAM12,ADAM12 EXON Silent,Missense_G718S exm864114 10 127731617 [T/C] NM_003474,NM_021641 ADAM12,ADAM12 EXON Missense_R702Q,Missense_R702Q exm864117 10 127734644 [T/C] NM_003474,NM_021641 ADAM12,ADAM12 EXON Missense_M662V,Missense_M662V exm864118 10 127734653 [T/C] NM_003474,NM_021641 ADAM12,ADAM12 EXON Missense_E659K,Missense_E659K exm864127 10 127737958 [T/C] NM_003474,NM_021641 ADAM12,ADAM12 EXON Missense_N597S,Missense_N597S exm864128 10 127737962 [T/C] NM_003474,NM_021641 ADAM12,ADAM12 EXON Missense_T596A,Missense_T596A exm864131 10 127738138 [A/G] NM_003474,NM_021641 ADAM12,ADAM12 EXON Synonymous_C573C,Synonymous_C573C exm864143 10 127753389 [A/G] NM_003474,NM_021641 ADAM12,ADAM12 EXON Missense_T535M,Missense_T535M exm864146 10 127753438 [T/C] NM_003474,NM_021641 ADAM12,ADAM12 EXON Missense_G519S,Missense_G519S exm864150 10 127753497 [G/C] NM_003474,NM_021641 ADAM12,ADAM12 EXON Missense_S499T,Missense_S499T exm864152 10 127753551 [A/G] NM_003474,NM_021641 ADAM12,ADAM12 EXON Missense_A481V,Missense_A481V exm864177 10 127789671 [T/C] NM_003474,NM_021641 ADAM12,ADAM12 EXON Missense_R297H,Missense_R297H exm864195 10 127806693 [A/G] NM_003474,NM_021641 ADAM12,ADAM12 EXON Missense_R176W,Missense_R176W exm864196 10 127806700 [T/G] NM_003474,NM_021641 ADAM12,ADAM12 EXON Missense_K173N,Missense_K173N exm864197 10 127806710 [T/C] NM_003474,NM_021641 ADAM12,ADAM12 EXON Missense_K170R,Missense_K170R exm2249098 10 127806721 [A/G] NM_003474,NM_021641 ADAM12,ADAM12 EXON Synonymous_L166L,Synonymous_L166L exm2259545 10 127874740 [A/G] NM_003474,NM_021641 ADAM12,ADAM12 Silent,Silent exm864211 10 127967532 [T/C] NM_003474,NM_021641 ADAM12,ADAM12 EXON Missense_R71Q,Missense_R71Q exm864214 10 127967548 [T/C] NM_003474,NM_021641 ADAM12,ADAM12 EXON Missense_E66K,Missense_E66K exm2216857 10 128147711 [C/G] NM_001004298 C10orf90 EXON Missense_Q599E exm864235 10 128147749 [T/C] NM_001004298 C10orf90 EXON Missense_R586H exm864237 10 128147782 [A/G] NM_001004298 C10orf90 EXON Missense_A575V exm864256 10 128150096 [T/G] NM_001004298 C10orf90 EXON Missense_D531E exm864258 10 128153292 [A/C] NM_001004298 C10orf90 EXON Missense_V503F exm864259 10 128153321 [A/T] NM_001004298 C10orf90 EXON Missense_V493E exm864261 10 128153340 [T/G] NM_001004298 C10orf90 EXON Missense_L487I exm864262 10 128153351 [A/G] NM_001004298 C10orf90 EXON Missense_F483S exm864264 10 128153385 [A/G] NM_001004298 C10orf90 EXON Nonsense_R472X exm864267 10 128153432 [C/G] NM_001004298 C10orf90 EXON Missense_P456R exm1674326 10 128153460 [A/G] NM_001004298 C10orf90 EXON Missense_H447Y exm864278 10 128192600 [T/C] NM_001004298 C10orf90 EXON Missense_H390R exm864279 10 128192622 [C/G] NM_001004298 C10orf90 EXON Missense_V383L exm864288 10 128192826 [T/C] NM_001004298 C10orf90 EXON Missense_I315V exm2216860 10 128192841 [T/C] NM_001004298 C10orf90 EXON Missense_V310M exm864291 10 128192870 [T/C] NM_001004298 C10orf90 EXON Missense_R300K exm864293 10 128192879 [T/C] NM_001004298 C10orf90 EXON Missense_S297N exm864301 10 128192992 [C/G] NM_001004298 C10orf90 EXON Missense_Q259H exm864304 10 128193125 [T/C] NM_001004298 C10orf90 EXON Missense_G215E exm864316 10 128193341 [A/G] NM_001004298 C10orf90 EXON Missense_T143M exm864317 10 128193368 [T/C] NM_001004298 C10orf90 EXON Missense_R134H exm864325 10 128193525 [A/G] NM_001004298 C10orf90 EXON Missense_H82Y exm2276133 10 128193579 [T/C] NM_001004298 C10orf90 EXON Missense_R64G exm864333 10 128202436 [A/G] NM_001004298 C10orf90 EXON Missense_A32V exm864338 10 128209885 [A/C] NM_001004298 C10orf90 EXON Missense_L2R exm2249099 10 128252275 [T/C] exm2249100 10 128463477 [T/C] exm2276968 10 128788749 [T/C] NM_001380 DOCK1 EXON Missense_R119W exm864366 10 128795026 [A/G] NM_001380 DOCK1 EXON Missense_D163G exm864384 10 128798496 [A/G] NM_001380 DOCK1 EXON Missense_V304M exm864386 10 128798524 [A/C] NM_001380 DOCK1 EXON Missense_N313T exm864391 10 128810586 [C/G] NM_001380 DOCK1 EXON Missense_Q362H exm864402 10 128822962 [T/C] NM_001380 DOCK1 EXON Missense_P468L exm864408 10 128824662 [T/C] NM_001380 DOCK1 EXON Missense_T512I exm864409 10 128824667 [T/C] NM_001380 DOCK1 EXON Missense_R514C exm864438 10 128851018 [A/G] NM_001380 DOCK1 EXON Missense_A738T exm864441 10 128851076 [A/G] NM_001380 DOCK1 EXON Missense_N757S exm864489 10 128904495 [A/G] NM_001380 DOCK1 EXON Missense_G795R exm864498 10 128923768 [C/G] NM_001380 DOCK1 EXON Missense_T864S exm864505 10 128925964 [T/C] NM_001380 DOCK1 EXON Missense_M907T exm864510 10 128936199 [T/G] NM_001380,NM_001039762 DOCK1,FAM196A EXON Silent,Missense_P448T exm2271441 10 128944080 [T/C] NM_001380,NM_001039762 DOCK1,FAM196A Silent,Silent exm864553 10 128973939 [T/C] NM_001380,NM_001039762 DOCK1,FAM196A EXON Silent,Missense_A241T exm864559 10 128973984 [T/C] NM_001380,NM_001039762 DOCK1,FAM196A EXON Silent,Missense_G226R exm864573 10 128974163 [T/C] NM_001380,NM_001039762 DOCK1,FAM196A EXON Silent,Missense_R166Q exm864580 10 128974220 [A/G] NM_001380,NM_001039762 DOCK1,FAM196A EXON Silent,Missense_A147V exm864582 10 128974240 [T/G] NM_001380,NM_001039762 DOCK1,FAM196A EXON Silent,Missense_N140K exm864586 10 128974365 [T/C] NM_001380,NM_001039762 DOCK1,FAM196A EXON Silent,Missense_V99I exm1674443 10 128974443 [A/G] NM_001380,NM_001039762 DOCK1,FAM196A EXON Silent,Missense_R73W exm864596 10 128974517 [T/C] NM_001380,NM_001039762 DOCK1,FAM196A EXON Silent,Missense_R48Q exm864604 10 128974587 [A/C] NM_001380,NM_001039762 DOCK1,FAM196A EXON Silent,Missense_A25S exm2267062 10 129123033 [A/G] NM_001380 DOCK1 Silent exm864641 10 129172393 [A/G] NM_001380 DOCK1 EXON Missense_R1176H exm864654 10 129183096 [A/G] NM_001380 DOCK1 EXON Missense_G1263R exm-rs11017876 10 129200964 [A/G] NM_001380 DOCK1 Silent exm864663 10 129201373 [A/G] NM_001380 DOCK1 EXON Missense_E1307K exm864668 10 129207307 [G/C] NM_001380 DOCK1 EXON Missense_V1356L exm864673 10 129207428 [A/C] NM_001380 DOCK1 EXON Missense_N1396T exm864697 10 129216807 [T/C] NM_001380 DOCK1 Silent exm864700 10 129217957 [A/G] NM_001380 DOCK1 EXON Missense_E1553K exm864715 10 129224216 [A/G] NM_001380 DOCK1 EXON Missense_E1598K exm864731 10 129237488 [T/C] NM_001380 DOCK1 EXON Missense_T1732M exm864732 10 129242415 [T/C] NM_001380 DOCK1 EXON Missense_P1741L exm864734 10 129242435 [A/G] NM_001380 DOCK1 EXON Missense_V1748I exm864736 10 129242460 [T/C] NM_001380 DOCK1 EXON Missense_S1756L exm864744 10 129245684 [A/G] NM_001380 DOCK1 EXON Missense_A1793T exm864747 10 129245753 [A/G] NM_001380 DOCK1 EXON Missense_E1816K exm864752 10 129249662 [A/G] NM_001380 DOCK1 EXON Missense_A1857T exm-rs4363506 10 129274503 [T/C] exm864759 10 129347767 [A/G] NM_001030013 NPS EXON Missense_N8S exm864762 10 129347785 [T/C] NM_001030013 NPS EXON Missense_S14L exm864763 10 129347809 [C/G] NM_001030013 NPS EXON Missense_W22S exm864765 10 129347818 [T/C] NM_001030013 NPS EXON Missense_P25L exm864774 10 129350856 [G/C] NM_001030013 NPS EXON Missense_V75L exm864776 10 129350889 [A/G] NM_001030013 NPS EXON Missense_R86G exm864785 10 129536871 [A/C] NM_207426 FOXI2 EXON Missense_E200A exm864804 10 129537221 [T/G] NM_207426 FOXI2 EXON Nonsense_E317X exm-rs1000797 10 129652787 [A/G] exm2271365 10 129655008 [T/G] exm864812 10 129676520 [T/C] NM_152311 CLRN3 EXON Missense_I192V exm864817 10 129676579 [T/C] NM_152311 CLRN3 EXON Missense_G172E exm864819 10 129676622 [T/C] NM_152311 CLRN3 EXON Missense_E158K exm864824 10 129681963 [T/C] NM_152311 CLRN3 EXON Missense_G136S exm864828 10 129681989 [A/G] NM_152311 CLRN3 EXON Missense_T127M exm864829 10 129681992 [A/G] NM_152311 CLRN3 EXON Missense_P126L exm864836 10 129690826 [A/T] NM_152311 CLRN3 EXON Missense_F75I exm864837 10 129690837 [T/G] NM_152311 CLRN3 EXON Missense_P71Q exm864840 10 129690868 [T/C] NM_152311 CLRN3 EXON Missense_S61G exm864846 10 129690912 [T/A] NM_152311 CLRN3 EXON Missense_N46I exm2259547 10 129712083 [A/G] NM_006504 PTPRE Silent exm864867 10 129845938 [A/G] NM_006504,NM_130435 PTPRE,PTPRE EXON Silent,Missense_R9Q exm864880 10 129847929 [A/G] NM_006504,NM_130435 PTPRE,PTPRE EXON Missense_N140S,Missense_N82S exm864883 10 129854414 [A/T] NM_006504,NM_130435 PTPRE,PTPRE EXON Missense_T150S,Missense_T92S exm864905 10 129866508 [T/C] NM_006504,NM_130435 PTPRE,PTPRE EXON Missense_T322M,Missense_T264M exm2249103 10 129866518 [T/C] NM_006504,NM_130435 PTPRE,PTPRE EXON Synonymous_P325P,Synonymous_P267P exm1674577 10 129867956 [T/C] NM_006504,NM_130435 PTPRE,PTPRE EXON Synonymous_S336S,Synonymous_S278S exm864922 10 129868575 [T/C] NM_006504,NM_130435 PTPRE,PTPRE EXON Missense_T385M,Missense_T327M exm864929 10 129868686 [A/G] NM_006504,NM_130435 PTPRE,PTPRE EXON Missense_D422G,Missense_D364G exm864940 10 129870428 [A/G] NM_006504,NM_130435 PTPRE,PTPRE EXON Missense_M472V,Missense_M414V exm864955 10 129874922 [T/C] NM_006504,NM_130435 PTPRE,PTPRE EXON Missense_T552M,Missense_T494M exm864956 10 129874929 [G/C] NM_006504,NM_130435 PTPRE,PTPRE EXON Missense_E554D,Missense_E496D exm864961 10 129875891 [A/G] NM_006504,NM_130435 PTPRE,PTPRE EXON Missense_R579H,Missense_R521H exm864987 10 129899523 [T/C] NM_001145966,NM_002417 MKI67,MKI67 EXON Missense_K2875R,Missense_K3235R exm864991 10 129899578 [T/C] NM_001145966,NM_002417 MKI67,MKI67 EXON Missense_K2857E,Missense_K3217E exm865000 10 129899778 [G/C] NM_001145966,NM_002417 MKI67,MKI67 EXON Missense_T2790S,Missense_T3150S exm865004 10 129899922 [T/C] NM_001145966,NM_002417 MKI67,MKI67 EXON Missense_E2742G,Missense_E3102G exm2249104 10 129900858 [T/C] NM_001145966,NM_002417 MKI67,MKI67 EXON Synonymous_S2722S,Synonymous_S3082S exm1674603 10 129900859 [A/G] NM_001145966,NM_002417 MKI67,MKI67 EXON Missense_S2722L,Missense_S3082L exm865013 10 129901066 [A/C] NM_001145966,NM_002417 MKI67,MKI67 EXON Missense_R2653L,Missense_R3013L exm865016 10 129901084 [A/G] NM_001145966,NM_002417 MKI67,MKI67 EXON Missense_T2647M,Missense_T3007M exm865017 10 129901148 [T/C] NM_001145966,NM_002417 MKI67,MKI67 EXON Missense_K2626E,Missense_K2986E exm865025 10 129901328 [T/G] NM_001145966,NM_002417 MKI67,MKI67 EXON Missense_Q2566K,Missense_Q2926K exm865029 10 129901393 [T/C] NM_001145966,NM_002417 MKI67,MKI67 EXON Missense_Q2544R,Missense_Q2904R exm865034 10 129901501 [G/C] NM_001145966,NM_002417 MKI67,MKI67 EXON Missense_T2508S,Missense_T2868S exm865038 10 129901570 [T/C] NM_001145966,NM_002417 MKI67,MKI67 EXON Missense_R2485H,Missense_R2845H exm865039 10 129901580 [A/G] NM_001145966,NM_002417 MKI67,MKI67 EXON Missense_P2482S,Missense_P2842S exm865045 10 129901654 [T/C] NM_001145966,NM_002417 MKI67,MKI67 EXON Missense_D2457G,Missense_D2817G exm865049 10 129901717 [A/G] NM_001145966,NM_002417 MKI67,MKI67 EXON Missense_A2436V,Missense_A2796V exm865053 10 129901747 [T/C] NM_001145966,NM_002417 MKI67,MKI67 EXON Missense_R2426Q,Missense_R2786Q exm865057 10 129901825 [T/C] NM_001145966,NM_002417 MKI67,MKI67 EXON Missense_D2400G,Missense_D2760G exm865058 10 129901853 [T/C] NM_001145966,NM_002417 MKI67,MKI67 EXON Missense_D2391N,Missense_D2751N exm865061 10 129901946 [T/G] NM_001145966,NM_002417 MKI67,MKI67 EXON Missense_T2360P,Missense_T2720P exm865066 10 129902099 [A/G] NM_001145966,NM_002417 MKI67,MKI67 EXON Missense_P2309S,Missense_P2669S exm865067 10 129902113 [T/C] NM_001145966,NM_002417 MKI67,MKI67 EXON Missense_R2304K,Missense_R2664K exm865069 10 129902131 [T/C] NM_001145966,NM_002417 MKI67,MKI67 EXON Missense_E2298G,Missense_E2658G exm865072 10 129902158 [T/C] NM_001145966,NM_002417 MKI67,MKI67 EXON Missense_R2289H,Missense_R2649H exm865073 10 129902197 [A/G] NM_001145966,NM_002417 MKI67,MKI67 EXON Missense_P2276L,Missense_P2636L exm865074 10 129902206 [T/C] NM_001145966,NM_002417 MKI67,MKI67 EXON Missense_H2273R,Missense_H2633R exm865079 10 129902281 [A/G] NM_001145966,NM_002417 MKI67,MKI67 EXON Missense_P2248L,Missense_P2608L exm865080 10 129902284 [T/C] NM_001145966,NM_002417 MKI67,MKI67 EXON Missense_R2247H,Missense_R2607H exm865084 10 129902321 [A/C] NM_001145966,NM_002417 MKI67,MKI67 EXON Missense_D2235Y,Missense_D2595Y exm865085 10 129902368 [A/T] NM_001145966,NM_002417 MKI67,MKI67 EXON Missense_D2219V,Missense_D2579V exm865088 10 129902411 [A/G] NM_001145966,NM_002417 MKI67,MKI67 EXON Missense_L2205F,Missense_L2565F exm865090 10 129902444 [A/G] NM_001145966,NM_002417 MKI67,MKI67 EXON Missense_R2194C,Missense_R2554C exm865091 10 129902459 [A/G] NM_001145966,NM_002417 MKI67,MKI67 EXON Missense_R2189C,Missense_R2549C exm865094 10 129902518 [A/G] NM_001145966,NM_002417 MKI67,MKI67 EXON Missense_P2169L,Missense_P2529L exm865102 10 129902597 [A/G] NM_001145966,NM_002417 MKI67,MKI67 EXON Missense_R2143W,Missense_R2503W exm865104 10 129902647 [A/G] NM_001145966,NM_002417 MKI67,MKI67 EXON Missense_L2126P,Missense_L2486P exm865117 10 129902936 [A/G] NM_001145966,NM_002417 MKI67,MKI67 EXON Missense_P2030S,Missense_P2390S exm865118 10 129902938 [G/C] NM_001145966,NM_002417 MKI67,MKI67 EXON Missense_T2029R,Missense_T2389R exm865121 10 129903016 [T/C] NM_001145966,NM_002417 MKI67,MKI67 EXON Missense_N2003S,Missense_N2363S exm865126 10 129903094 [T/G] NM_001145966,NM_002417 MKI67,MKI67 EXON Missense_T1977N,Missense_T2337N exm865133 10 129903235 [A/G] NM_001145966,NM_002417 MKI67,MKI67 EXON Missense_L1930S,Missense_L2290S exm865149 10 129903494 [G/C] NM_001145966,NM_002417 MKI67,MKI67 EXON Missense_P1844A,Missense_P2204A exm865150 10 129903506 [A/G] NM_001145966,NM_002417 MKI67,MKI67 EXON Missense_L1840F,Missense_L2200F exm865156 10 129903541 [G/C] NM_001145966,NM_002417 MKI67,MKI67 EXON Missense_A1828G,Missense_A2188G exm865157 10 129903592 [A/G] NM_001145966,NM_002417 MKI67,MKI67 EXON Missense_A1811V,Missense_A2171V exm1674626 10 129903720 [C/G] NM_001145966,NM_002417 MKI67,MKI67 EXON Missense_R1768S,Missense_R2128S exm865165 10 129903784 [A/G] NM_001145966,NM_002417 MKI67,MKI67 EXON Missense_P1747L,Missense_P2107L exm865166 10 129903802 [A/G] NM_001145966,NM_002417 MKI67,MKI67 EXON Missense_I1741T,Missense_I2101T exm865168 10 129903847 [C/G] NM_001145966,NM_002417 MKI67,MKI67 EXON Missense_P1726R,Missense_P2086R exm865169 10 129903851 [T/C] NM_001145966,NM_002417 MKI67,MKI67 EXON Missense_T1725A,Missense_T2085A exm865170 10 129903853 [T/G] NM_001145966,NM_002417 MKI67,MKI67 EXON Missense_Q1724P,Missense_Q2084P exm865175 10 129903895 [A/G] NM_001145966,NM_002417 MKI67,MKI67 EXON Missense_A1710V,Missense_A2070V exm865181 10 129904036 [T/C] NM_001145966,NM_002417 MKI67,MKI67 EXON Missense_G1663E,Missense_G2023E exm865185 10 129904087 [A/G] NM_001145966,NM_002417 MKI67,MKI67 EXON Missense_V1646A,Missense_V2006A exm1674630 10 129904094 [T/C] NM_001145966,NM_002417 MKI67,MKI67 EXON Missense_G1644R,Missense_G2004R exm865191 10 129904200 [G/C] NM_001145966,NM_002417 MKI67,MKI67 EXON Missense_E1608D,Missense_E1968D exm865194 10 129904253 [T/G] NM_001145966,NM_002417 MKI67,MKI67 EXON Missense_L1591I,Missense_L1951I exm865196 10 129904273 [T/G] NM_001145966,NM_002417 MKI67,MKI67 EXON Missense_P1584H,Missense_P1944H exm865201 10 129904393 [A/C] NM_001145966,NM_002417 MKI67,MKI67 EXON Missense_M1544R,Missense_M1904R exm865208 10 129904477 [T/C] NM_001145966,NM_002417 MKI67,MKI67 EXON Missense_R1516Q,Missense_R1876Q exm865209 10 129904478 [A/G] NM_001145966,NM_002417 MKI67,MKI67 EXON Missense_R1516W,Missense_R1876W exm865214 10 129904519 [A/G] NM_001145966,NM_002417 MKI67,MKI67 EXON Missense_P1502L,Missense_P1862L exm865225 10 129904654 [G/C] NM_001145966,NM_002417 MKI67,MKI67 EXON Missense_R1457T,Missense_R1817T exm865228 10 129904688 [G/C] NM_001145966,NM_002417 MKI67,MKI67 EXON Missense_L1446V,Missense_L1806V exm865237 10 129904838 [T/C] NM_001145966,NM_002417 MKI67,MKI67 EXON Missense_K1396E,Missense_K1756E exm865248 10 129905041 [A/G] NM_001145966,NM_002417 MKI67,MKI67 EXON Missense_A1328V,Missense_A1688V exm865256 10 129905239 [A/G] NM_001145966,NM_002417 MKI67,MKI67 EXON Missense_P1262L,Missense_P1622L exm865261 10 129905429 [T/C] NM_001145966,NM_002417 MKI67,MKI67 EXON Missense_V1199M,Missense_V1559M exm865267 10 129905515 [T/C] NM_001145966,NM_002417 MKI67,MKI67 EXON Missense_R1170Q,Missense_R1530Q exm865279 10 129905654 [T/C] NM_001145966,NM_002417 MKI67,MKI67 EXON Missense_T1124A,Missense_T1484A exm865282 10 129905774 [A/G] NM_001145966,NM_002417 MKI67,MKI67 EXON Missense_P1084S,Missense_P1444S exm865287 10 129905820 [A/T] NM_001145966,NM_002417 MKI67,MKI67 EXON Missense_D1068E,Missense_D1428E exm865288 10 129905822 [T/C] NM_001145966,NM_002417 MKI67,MKI67 EXON Missense_D1068N,Missense_D1428N exm865293 10 129905906 [A/C] NM_001145966,NM_002417 MKI67,MKI67 EXON Missense_V1040L,Missense_V1400L exm2216871 10 129905945 [T/G] NM_001145966,NM_002417 MKI67,MKI67 EXON Missense_T1027P,Missense_T1387P exm865312 10 129906364 [A/G] NM_001145966,NM_002417 MKI67,MKI67 EXON Missense_T887I,Missense_T1247I exm865316 10 129906379 [C/G] NM_001145966,NM_002417 MKI67,MKI67 EXON Missense_A882G,Missense_A1242G exm865319 10 129906443 [C/G] NM_001145966,NM_002417 MKI67,MKI67 EXON Missense_L861V,Missense_L1221V exm865326 10 129906577 [A/G] NM_001145966,NM_002417 MKI67,MKI67 EXON Missense_T816M,Missense_T1176M exm865329 10 129906607 [A/G] NM_001145966,NM_002417 MKI67,MKI67 EXON Missense_L806P,Missense_L1166P exm865332 10 129906667 [A/C] NM_001145966,NM_002417 MKI67,MKI67 EXON Missense_W786L,Missense_W1146L exm865333 10 129906674 [T/C] NM_001145966,NM_002417 MKI67,MKI67 EXON Missense_K784E,Missense_K1144E exm865337 10 129906832 [A/G] NM_001145966,NM_002417 MKI67,MKI67 EXON Missense_T731M,Missense_T1091M exm865343 10 129906928 [A/G] NM_001145966,NM_002417 MKI67,MKI67 EXON Missense_A699V,Missense_A1059V exm865346 10 129906980 [T/C] NM_001145966,NM_002417 MKI67,MKI67 EXON Missense_G682S,Missense_G1042S exm865354 10 129907173 [T/G] NM_001145966,NM_002417 MKI67,MKI67 EXON Missense_K617N,Missense_K977N exm865367 10 129907489 [A/G] NM_001145966,NM_002417 MKI67,MKI67 EXON Missense_A512V,Missense_A872V exm865375 10 129907609 [T/C] NM_001145966,NM_002417 MKI67,MKI67 EXON Missense_R472Q,Missense_R832Q exm865376 10 129907610 [A/G] NM_001145966,NM_002417 MKI67,MKI67 EXON Missense_R472W,Missense_R832W exm865378 10 129907631 [A/T] NM_001145966,NM_002417 MKI67,MKI67 EXON Missense_S465T,Missense_S825T exm865397 10 129910047 [T/C] NM_001145966,NM_002417 MKI67,MKI67 EXON Missense_T348A,Missense_T708A exm865398 10 129910064 [A/G] NM_001145966,NM_002417 MKI67,MKI67 EXON Missense_V342A,Missense_V702A exm865405 10 129910252 [A/C] NM_001145966,NM_002417 MKI67,MKI67 EXON Missense_V316G,Missense_V676G exm865406 10 129910291 [T/C] NM_001145966,NM_002417 MKI67,MKI67 EXON Missense_D303G,Missense_D663G exm865411 10 129910475 [T/G] NM_001145966,NM_002417 MKI67,MKI67 EXON Missense_I271L,Missense_I631L exm865413 10 129910583 [A/G] NM_001145966,NM_002417 MKI67,MKI67 EXON Missense_R235C,Missense_R595C exm865419 10 129910642 [T/C] NM_001145966,NM_002417 MKI67,MKI67 EXON Missense_S215N,Missense_S575N exm865429 10 129911834 [A/G] NM_001145966,NM_002417 MKI67,MKI67 EXON Missense_R145C,Missense_R505C exm865430 10 129911856 [G/C] NM_001145966,NM_002417 MKI67,MKI67 EXON Missense_E137D,Missense_E497D exm2249105 10 129913367 [T/C] NM_001145966,NM_002417 MKI67,MKI67 EXON Silent,Synonymous_T435T exm865440 10 129913368 [A/G] NM_001145966,NM_002417 MKI67,MKI67 EXON Silent,Missense_T435M exm1674676 10 129913632 [T/G] NM_001145966,NM_002417 MKI67,MKI67 EXON Silent,Missense_T347N exm865458 10 129913705 [T/C] NM_001145966,NM_002417 MKI67,MKI67 EXON Silent,Missense_V323M exm865460 10 129913727 [A/C] NM_001145966,NM_002417 MKI67,MKI67 EXON Silent,Missense_Q315H exm865468 10 129913861 [T/C] NM_001145966,NM_002417 MKI67,MKI67 EXON Silent,Missense_A271T exm865474 10 129913960 [T/A] NM_001145966,NM_002417 MKI67,MKI67 EXON Silent,Missense_W238R exm1674679 10 129914017 [T/G] NM_001145966,NM_002417 MKI67,MKI67 EXON Silent,Missense_K219Q exm865478 10 129914025 [T/C] NM_001145966,NM_002417 MKI67,MKI67 EXON Silent,Missense_G216E exm865484 10 129914162 [C/G] NM_001145966,NM_002417 MKI67,MKI67 EXON Silent,Missense_D170E exm865487 10 129914199 [T/C] NM_001145966,NM_002417 MKI67,MKI67 EXON Silent,Missense_H158R exm1674682 10 129914272 [T/C] NM_001145966,NM_002417 MKI67,MKI67 Silent,Silent exm865493 10 129914787 [T/C] NM_001145966,NM_002417 MKI67,MKI67 EXON Missense_R123H,Missense_R123H exm865498 10 129917560 [T/C] NM_001145966,NM_002417 MKI67,MKI67 EXON Missense_N104S,Missense_N104S exm-rs2387326 10 129933456 [T/C] exm-rs11818629 10 130137105 [T/C] exm-rs9804317 10 130248926 [T/G] exm2267063 10 130307593 [A/G] exm2259548 10 130541770 [A/C] exm2267064 10 130665155 [A/G] exm2271442 10 131200443 [T/C] exm2267065 10 131293145 [A/G] NM_002412 MGMT Silent exm865513 10 131334541 [T/C] NM_002412 MGMT EXON Missense_R40C exm865515 10 131334604 [A/G] NM_002412 MGMT EXON Missense_E61K exm865527 10 131506253 [A/G] NM_002412 MGMT EXON Missense_E105K exm865531 10 131506274 [A/G] NM_002412 MGMT EXON Missense_V112M exm865532 10 131506283 [T/C] NM_002412 MGMT EXON Missense_L115F exm865541 10 131557574 [A/G] NM_002412 MGMT EXON Missense_R159Q exm865546 10 131565064 [A/G] NM_002412 MGMT EXON Missense_I174V exm865548 10 131565115 [A/G] NM_002412 MGMT EXON Missense_G191R exm865550 10 131565135 [A/T] NM_002412 MGMT EXON Missense_E197D exm865555 10 131565170 [A/G] NM_002412 MGMT EXON Missense_K209R exm865557 10 131565209 [A/G] NM_002412 MGMT EXON Nonsense_W222X exm865602 10 131665406 [G/C] NM_001005463 EBF3 EXON Synonymous_T337T exm865672 10 131959150 [T/C] NM_006541,NM_001199868 GLRX3,GLRX3 EXON Missense_P123S,Missense_P123S exm865674 10 131959189 [T/C] NM_006541,NM_001199868 GLRX3,GLRX3 EXON Missense_R136C,Missense_R136C exm865697 10 131977637 [T/C] NM_006541,NM_001199868 GLRX3,GLRX3 EXON Missense_I330T,Missense_I330T exm-rs4751178 10 131992245 [A/G] exm-rs4751185 10 132056415 [T/C] exm2249111 10 132139508 [T/C] exm2264408 10 132217047 [A/C] exm-rs11017252 10 132231596 [A/C] exm2249112 10 132387898 [T/C] exm2259551 10 132583686 [T/C] exm-rs10741231 10 132681679 [T/C] exm865701 10 132891465 [T/C] NM_174937 TCERG1L EXON Missense_R574Q exm865704 10 132891531 [T/C] NM_174937 TCERG1L EXON Missense_R552Q exm865717 10 132915117 [A/G] NM_174937 TCERG1L EXON Missense_L447P exm865721 10 132915135 [A/G] NM_174937 TCERG1L EXON Missense_T441M exm865730 10 132944769 [T/C] NM_174937 TCERG1L EXON Missense_T397A exm865732 10 132944897 [T/C] NM_174937 TCERG1L EXON Missense_R354Q exm-rs10741243 10 132947962 [G/C] NM_174937 TCERG1L Silent exm865739 10 132961454 [T/C] NM_174937 TCERG1L EXON Missense_G322E exm865740 10 132961455 [G/C] NM_174937 TCERG1L EXON Missense_G322R exm865746 10 132965119 [A/G] NM_174937 TCERG1L EXON Missense_R296C exm865749 10 132965134 [A/G] NM_174937 TCERG1L EXON Missense_R291W exm2267066 10 132992902 [A/G] NM_174937 TCERG1L Silent exm865768 10 133106530 [A/G] NM_174937 TCERG1L EXON Missense_P205L exm865779 10 133107508 [C/G] NM_174937 TCERG1L EXON Missense_E133Q exm2259552 10 133514014 [A/C] exm2267067 10 133608237 [A/G] NR_038365 FLJ46300 EXON Silent exm865792 10 133748056 [A/T] NM_018461,NR_033191 PPP2R2D,PPP2R2D EXON Nonsense_R33X,Silent exm865794 10 133753576 [T/C] NM_018461,NR_033191 PPP2R2D,PPP2R2D EXON Nonsense_Q48X,Silent exm865795 10 133753642 [T/C] NM_018461,NR_033191 PPP2R2D,PPP2R2D EXON Missense_X70Q,Silent exm865810 10 133758888 [A/G] NM_018461,NR_033191 PPP2R2D,PPP2R2D EXON Missense_R216H,Silent exm865812 10 133758947 [T/C] NM_018461,NR_033191 PPP2R2D,PPP2R2D EXON Nonsense_R236X,Silent exm865820 10 133761285 [A/G] NM_018461,NR_033191 PPP2R2D,PPP2R2D EXON Missense_R325Q,Silent exm865825 10 133769257 [T/C] NM_018461,NR_033191 PPP2R2D,PPP2R2D EXON Missense_P352S,Silent exm865830 10 133769320 [A/G] NM_018461,NR_033191 PPP2R2D,PPP2R2D EXON Missense_G373R,Silent exm865920 10 133930971 [A/G] NM_001105521 JAKMIP3 EXON Missense_I176V exm865926 10 133946852 [A/G] NM_001105521 JAKMIP3 EXON Missense_V224M exm865930 10 133946942 [T/C] NM_001105521 JAKMIP3 EXON Nonsense_R254X exm865943 10 133949443 [A/G] NM_001105521 JAKMIP3 EXON Missense_V327I exm865948 10 133950545 [A/G] NM_001105521 JAKMIP3 EXON Missense_R380Q exm2249116 10 133950760 [G/C] NM_001105521 JAKMIP3 EXON Synonymous_T417T exm865988 10 133958654 [A/G] NM_001105521 JAKMIP3 EXON Missense_R549Q exm865992 10 133959026 [T/C] NM_001105521 JAKMIP3 EXON Missense_M564T exm866007 10 133963499 [T/C] NM_001105521 JAKMIP3 EXON Missense_A654V exm2274448 10 133963537 [A/G] NM_001105521 JAKMIP3 EXON Missense_A667T exm866025 10 133967324 [A/G] NM_001105521 JAKMIP3 EXON Missense_S710N exm866031 10 133976800 [T/C] NM_001105521 JAKMIP3 EXON Missense_R768C exm866032 10 133976801 [T/G] NM_001105521 JAKMIP3 EXON Missense_R768L exm866034 10 133976803 [A/G] NM_001105521 JAKMIP3 EXON Missense_E769K exm866062 10 134004293 [A/G] NM_006426 DPYSL4 EXON Missense_D28N exm866076 10 134006341 [T/C] NM_006426 DPYSL4 EXON Missense_M103T exm866079 10 134008357 [A/G] NM_006426 DPYSL4 EXON Missense_V108I exm866115 10 134013973 [T/C] NM_006426 DPYSL4 EXON Missense_P309S exm866116 10 134013974 [A/C] NM_006426 DPYSL4 EXON Missense_P309Q exm866118 10 134014003 [T/G] NM_006426 DPYSL4 EXON Missense_C319G exm866122 10 134014422 [A/G] NM_006426 DPYSL4 EXON Missense_A349T exm866123 10 134014423 [T/C] NM_006426 DPYSL4 EXON Missense_A349V exm866127 10 134014449 [A/G] NM_006426 DPYSL4 EXON Missense_I358V exm866131 10 134014470 [A/G] NM_006426 DPYSL4 EXON Missense_V365I exm866146 10 134016187 [A/G] NM_006426 DPYSL4 EXON Missense_R440Q exm2249118 10 134021526 [A/G] NM_173575 STK32C EXON Synonymous_A483A exm866188 10 134021576 [T/C] NM_173575 STK32C EXON Missense_E467K exm2249119 10 134021634 [G/C] NM_173575 STK32C EXON Synonymous_L447L exm866212 10 134037915 [T/C] NM_173575 STK32C EXON Missense_R330Q exm866215 10 134037961 [T/C] NM_173575 STK32C EXON Missense_V315I exm866219 10 134037997 [T/C] NM_173575 STK32C EXON Missense_V303M exm866220 10 134038000 [T/C] NM_173575 STK32C EXON Missense_A302T exm866232 10 134038817 [T/C] NM_173575 STK32C EXON Missense_V266I exm866337 10 134147120 [T/C] NM_001143758,NM_030626,NM_001143759,NM_001143757 LRRC27,LRRC27,LRRC27,LRRC27 EXON Missense_P31L,Missense_P31L,Missense_P31L,Missense_P31L exm866357 10 134151162 [A/T] NM_001143758,NM_030626,NM_001143759,NM_001143757,NR_026559 LRRC27,LRRC27,LRRC27,LRRC27,LRRC27 EXON Nonsense_R102X,Nonsense_R102X,Nonsense_R102X,Nonsense_R102X,Silent exm866364 10 134155774 [T/G] NM_001143758,NM_030626,NM_001143759,NM_001143757,NR_026559 LRRC27,LRRC27,LRRC27,LRRC27,LRRC27 EXON Synonymous_L133L,Synonymous_L133L,Synonymous_L133L,Synonymous_L133L,Silent exm866367 10 134158014 [T/C] NM_001143758,NM_030626,NM_001143759,NM_001143757,NR_026559 LRRC27,LRRC27,LRRC27,LRRC27,LRRC27 EXON Missense_T138M,Missense_T138M,Missense_T138M,Missense_T138M,Silent exm866370 10 134158028 [A/G] NM_001143758,NM_030626,NM_001143759,NM_001143757,NR_026559 LRRC27,LRRC27,LRRC27,LRRC27,LRRC27 EXON Missense_N143D,Missense_N143D,Missense_N143D,Missense_N143D,Silent exm866380 10 134158143 [G/C] NM_001143758,NM_030626,NM_001143759,NM_001143757,NR_026559 LRRC27,LRRC27,LRRC27,LRRC27,LRRC27 EXON Missense_P181R,Missense_P181R,Missense_P181R,Missense_P181R,Silent exm1675195 10 134161499 [A/G] NM_001143758,NM_030626,NM_001143759,NM_001143757,NR_026559 LRRC27,LRRC27,LRRC27,LRRC27,LRRC27 EXON Missense_V189I,Missense_V189I,Missense_V189I,Missense_V189I,Silent exm866383 10 134161517 [T/C] NM_001143758,NM_030626,NM_001143759,NM_001143757,NR_026559 LRRC27,LRRC27,LRRC27,LRRC27,LRRC27 EXON Missense_R195C,Missense_R195C,Missense_R195C,Missense_R195C,Silent exm866390 10 134161560 [T/C] NM_001143758,NM_030626,NM_001143759,NM_001143757,NR_026559 LRRC27,LRRC27,LRRC27,LRRC27,LRRC27 EXON Missense_A209V,Missense_A209V,Missense_A209V,Missense_A209V,Silent exm866409 10 134161785 [T/C] NM_001143758,NM_030626,NM_001143759,NM_001143757,NR_026559 LRRC27,LRRC27,LRRC27,LRRC27,LRRC27 EXON Missense_T284M,Missense_T284M,Missense_T284M,Missense_T284M,Silent exm866421 10 134165111 [A/G] NM_001143758,NM_030626,NM_001143759,NM_001143757,NR_026559 LRRC27,LRRC27,LRRC27,LRRC27,LRRC27 EXON Synonymous_R309R,Synonymous_R309R,Missense_E341G,Synonymous_R309R,Silent exm866442 10 134169377 [T/C] NM_030626,NM_001143757,NR_026559 LRRC27,LRRC27,LRRC27 EXON Missense_P386L,Missense_P386L,Silent exm866451 10 134175022 [T/C] NM_030626,NM_001143757,NR_026559 LRRC27,LRRC27,LRRC27 EXON Missense_P411L,Missense_P411L,Silent exm866454 10 134175070 [A/C] NM_030626,NM_001143757,NR_026559 LRRC27,LRRC27,LRRC27 EXON Missense_K427T,Missense_K427T,Silent exm866455 10 134175073 [A/G] NM_030626,NM_001143757,NR_026559 LRRC27,LRRC27,LRRC27 EXON Missense_E428G,Missense_E428G,Silent exm866457 10 134178960 [T/C] NM_030626,NM_001143757,NR_026559 LRRC27,LRRC27,LRRC27 EXON Missense_I441T,Missense_I441T,Silent exm866458 10 134178971 [A/G] NM_030626,NM_001143757,NR_026559 LRRC27,LRRC27,LRRC27 EXON Missense_V445I,Missense_V445I,Silent exm866460 10 134178977 [T/C] NM_030626,NM_001143757,NR_026559 LRRC27,LRRC27,LRRC27 EXON Nonsense_Q447X,Nonsense_Q447X,Silent exm866461 10 134178982 [A/G] NM_030626,NM_001143757,NR_026559 LRRC27,LRRC27,LRRC27 EXON Missense_M448I,Missense_M448I,Silent exm866462 10 134178984 [A/G] NM_030626,NM_001143757,NR_026559 LRRC27,LRRC27,LRRC27 EXON Missense_R449H,Missense_R449H,Silent exm866464 10 134179008 [A/C] NM_030626,NM_001143757,NR_026559 LRRC27,LRRC27,LRRC27 EXON Missense_Q457P,Missense_Q457P,Silent exm866472 10 134188637 [A/G] NM_030626,NM_001143757 LRRC27,LRRC27 EXON Missense_R495Q,Missense_R495Q exm866473 10 134188640 [T/C] NM_030626,NM_001143757 LRRC27,LRRC27 EXON Missense_A496V,Missense_A496V exm866475 10 134188661 [T/C] NM_030626,NM_001143757 LRRC27,LRRC27 EXON Missense_S503L,Missense_S503L exm866477 10 134188712 [A/G] NM_030626,NM_001143757 LRRC27,LRRC27 EXON Missense_Y520C,Missense_Y520C exm2216896 10 134188719 [A/T] NM_030626,NM_001143757 LRRC27,LRRC27 EXON Missense_E522D,Missense_E522D exm866511 10 134218492 [A/G] NM_138499,NM_001098637 PWWP2B,PWWP2B EXON Missense_R163H,Missense_R163H exm2249120 10 134219045 [T/C] NM_138499,NM_001098637 PWWP2B,PWWP2B EXON Synonymous_P347P,Synonymous_P347P exm866555 10 134219106 [T/C] NM_138499,NM_001098637 PWWP2B,PWWP2B EXON Missense_P368S,Missense_P368S exm866565 10 134219193 [A/G] NM_138499,NM_001098637 PWWP2B,PWWP2B EXON Missense_G397S,Missense_G397S exm866598 10 134230570 [T/C] NM_138499,NM_001098637 PWWP2B,PWWP2B EXON Silent,Nonsense_R498X exm866603 10 134258783 [A/G] NM_173541 C10orf91 Silent exm866611 10 134261243 [T/C] NM_173541 C10orf91 EXON Missense_P39L exm1675257 10 134261354 [T/C] NM_173541 C10orf91 EXON Missense_T76M exm866617 10 134261392 [A/G] NM_173541 C10orf91 EXON Missense_A89T exm866635 10 134261558 [A/G] NM_173541 C10orf91 EXON Missense_E144G exm866646 10 134459388 [A/G] NM_005539 INPP5A EXON Missense_K45R exm866659 10 134511340 [A/G] NM_005539 INPP5A EXON Missense_A131T exm866660 10 134511341 [T/C] NM_005539 INPP5A EXON Missense_A131V exm866663 10 134511394 [G/C] NM_005539 INPP5A EXON Missense_E149Q exm866681 10 134523914 [A/G] NM_005539 INPP5A EXON Missense_V201M exm866688 10 134540339 [A/G] NM_005539 INPP5A EXON Missense_R221Q exm866698 10 134563108 [A/G] NM_005539 INPP5A EXON Missense_D274N exm866705 10 134563348 [T/C] NM_005539 INPP5A EXON Missense_A301V exm866713 10 134579338 [T/C] NM_005539 INPP5A EXON Missense_S322L exm866717 10 134591197 [T/C] NM_005539 INPP5A EXON Missense_R334C exm866724 10 134595383 [T/C] NM_005539 INPP5A EXON Nonsense_R393X exm866743 10 134598628 [A/G] NM_177400 NKX6-2 EXON Missense_V209A exm866762 10 134599389 [T/G] NM_177400 NKX6-2 EXON Missense_M22L exm866769 10 134622002 [T/C] NM_001200049 TTC40 EXON Missense_G2691S exm866771 10 134622019 [T/C] NM_001200049 TTC40 EXON Missense_R2685Q exm866782 10 134622112 [A/G] NM_001200049 TTC40 EXON Missense_A2654V exm866793 10 134622301 [T/C] NM_001200049 TTC40 EXON Missense_R2591Q exm866800 10 134622408 [T/C] NM_001200049 TTC40 EXON Synonymous_R2555R exm866804 10 134623929 [A/G] NM_001200049 TTC40 EXON Nonsense_R2550X exm866808 10 134623959 [T/C] NM_001200049 TTC40 EXON Missense_S2540G exm866810 10 134623982 [T/C] NM_001200049 TTC40 EXON Missense_R2532H exm866816 10 134624502 [T/C] NM_001200049 TTC40 EXON Missense_R2512Q exm866823 10 134626293 [A/C] NM_001200049 TTC40 EXON Missense_L2499F exm866831 10 134626393 [T/C] NM_001200049 TTC40 EXON Missense_Q2466R exm866834 10 134627760 [T/C] NM_001200049 TTC40 Silent exm866840 10 134628114 [T/C] NM_001200049 TTC40 EXON Missense_V2418I exm866844 10 134628208 [T/C] NM_001200049 TTC40 EXON Missense_D2411N exm2267068 10 134629053 [A/G] NM_001200049 TTC40 Silent exm866866 10 134647602 [T/C] NM_001200049 TTC40 EXON Missense_D2298N exm866869 10 134648222 [T/C] NM_001200049 TTC40 EXON Missense_V2268I exm866876 10 134648279 [T/C] NM_001200049 TTC40 EXON Missense_E2249K exm866877 10 134648808 [T/C] NM_001200049 TTC40 EXON Synonymous_S2248S exm866887 10 134649709 [T/C] NM_001200049 TTC40 EXON Missense_G2184S exm866891 10 134650325 [T/C] NM_001200049 TTC40 EXON Missense_D2178N exm866892 10 134650334 [A/G] NM_001200049 TTC40 EXON Missense_L2175F exm866898 10 134650410 [T/G] NM_001200049 TTC40 EXON Missense_Q2149H exm866909 10 134659626 [A/G] NM_001200049 TTC40 EXON Missense_C2125R exm866910 10 134659658 [T/G] NM_001200049 TTC40 EXON Missense_A2114E exm866926 10 134660740 [A/G] NM_001200049 TTC40 EXON Missense_A2013V exm866944 10 134663933 [A/G] NM_001200049 TTC40 EXON Missense_W1923R exm866945 10 134664626 [T/C] NM_001200049 TTC40 EXON Missense_G1920S exm866950 10 134664770 [A/G] NM_001200049 TTC40 EXON Missense_R1872C exm866955 10 134671094 [G/C] NM_001200049 TTC40 EXON Missense_D1858E exm866962 10 134672609 [T/C] NM_001200049 TTC40 EXON Missense_V1781I exm2216903 10 134672702 [A/G] NM_001200049 TTC40 EXON Missense_P1750S exm2267069 10 134738232 [A/G] NM_001200049 TTC40 EXON Synonymous_A408A exm867047 10 134743091 [T/C] NM_001200049 TTC40 Silent exm867048 10 134743096 [G/C] NM_001200049 TTC40 Silent exm867049 10 134743097 [A/G] NM_001200049 TTC40 Silent exm867054 10 134743160 [T/C] NM_001200049 TTC40 Silent exm867057 10 134743172 [T/C] NM_001200049 TTC40 Silent exm867062 10 134743220 [T/C] NM_001200049 TTC40 EXON Missense_M319V exm867064 10 134743258 [A/G] NM_001200049 TTC40 EXON Missense_M306T exm867085 10 134748274 [A/G] NM_001200049 TTC40 EXON Missense_P283L exm867087 10 134748281 [A/G] NM_001200049 TTC40 EXON Missense_R281C exm867088 10 134748331 [T/C] NM_001200049 TTC40 EXON Missense_S264N exm867095 10 134750538 [T/C] NM_001200049 TTC40 EXON Missense_E228K exm867102 10 134751145 [T/C] NM_001200049 TTC40 EXON Missense_K191E exm867103 10 134751151 [T/C] NM_001200049 TTC40 EXON Missense_G189R exm1675392 10 134752109 [A/G] NM_001200049 TTC40 EXON Missense_R174C exm867108 10 134752112 [T/A] NM_001200049 TTC40 EXON Missense_W173R exm1675393 10 134752216 [T/C] NM_001200049 TTC40 EXON Missense_Q138R exm867114 10 134752258 [A/C] NM_001200049 TTC40 Silent exm867115 10 134752259 [T/C] NM_001200049 TTC40 Silent exm867133 10 134755115 [A/G] NM_001200049 TTC40 EXON Missense_P96S exm867340 10 134912226 [A/G] NM_001083909 GPR123 EXON Missense_G72S exm867358 10 134941843 [C/G] NM_001083909 GPR123 EXON Missense_A171P exm867399 10 134942615 [A/G] NM_001083909 GPR123 EXON Missense_R428Q exm867405 10 134942698 [A/C] NM_001083909 GPR123 EXON Missense_P456T exm867425 10 134974003 [T/C] NM_152643 KNDC1 EXON Missense_L11P exm867428 10 134980891 [A/G] NM_152643 KNDC1 EXON Missense_V37M exm867443 10 134996849 [T/C] NM_152643 KNDC1 EXON Missense_A121V exm867444 10 134996869 [T/G] NM_152643 KNDC1 EXON Missense_A128S exm867446 10 134996916 [A/T] NM_152643 KNDC1 EXON Missense_E143D exm867449 10 134996950 [A/G] NM_152643 KNDC1 EXON Missense_S155G exm867453 10 134997434 [A/G] NM_152643 KNDC1 EXON Missense_R189Q exm867471 10 134999676 [A/G] NM_152643 KNDC1 EXON Missense_R275Q exm867472 10 134999708 [A/G] NM_152643 KNDC1 EXON Missense_E286K exm867476 10 134999738 [A/G] NM_152643 KNDC1 EXON Missense_A296T exm867484 10 135000002 [A/G] NM_152643 KNDC1 EXON Missense_D384N exm867489 10 135000159 [A/G] NM_152643 KNDC1 EXON Missense_E436G exm867516 10 135009203 [A/G] NM_152643 KNDC1 EXON Missense_A538T exm867518 10 135009218 [A/G] NM_152643 KNDC1 EXON Missense_V543I exm867521 10 135009227 [A/G] NM_152643 KNDC1 EXON Missense_N546D exm867523 10 135009239 [T/G] NM_152643 KNDC1 EXON Missense_A550S exm867531 10 135010568 [A/G] NM_152643 KNDC1 EXON Missense_G581S exm867533 10 135010635 [A/G] NM_152643 KNDC1 EXON Missense_C603Y exm2216909 10 135012384 [T/C] NM_152643 KNDC1 EXON Missense_A791V exm867571 10 135012554 [A/G] NM_152643 KNDC1 EXON Missense_G848R exm867573 10 135012583 [A/C] NM_152643 KNDC1 EXON Missense_D857E exm867576 10 135012612 [T/C] NM_152643 KNDC1 EXON Missense_P867L exm867584 10 135012672 [A/G] NM_152643 KNDC1 EXON Missense_R887K exm867602 10 135013923 [T/C] NM_152643 KNDC1 EXON Missense_P983L exm867615 10 135015095 [A/G] NM_152643 KNDC1 EXON Missense_R1027Q exm867616 10 135015127 [A/T] NM_152643 KNDC1 EXON Missense_R1038W exm867622 10 135015178 [T/C] NM_152643 KNDC1 EXON Missense_R1055W exm867623 10 135015179 [A/G] NM_152643 KNDC1 EXON Missense_R1055Q exm867624 10 135015185 [T/C] NM_152643 KNDC1 EXON Missense_A1057V exm867625 10 135015190 [A/G] NM_152643 KNDC1 EXON Missense_G1059R exm867627 10 135015202 [A/G] NM_152643 KNDC1 EXON Missense_V1063M exm867676 10 135025011 [A/G] NM_152643 KNDC1 EXON Missense_A1332T exm867683 10 135025199 [T/G] NM_152643 KNDC1 EXON Missense_G1358V exm867684 10 135025208 [A/G] NM_152643 KNDC1 EXON Missense_K1361R exm867688 10 135025264 [C/G] NM_152643 KNDC1 EXON Missense_R1380G exm867755 10 135038335 [A/G] NM_152643 KNDC1 EXON Missense_E1731K exm867825 10 135053261 [A/G] NM_014468 VENTX EXON Missense_G108D exm867840 10 135053460 [T/C] NM_014468 VENTX EXON Missense_R143C exm867843 10 135053527 [T/C] NM_014468 VENTX EXON Missense_A165V exm867845 10 135053574 [T/C] NM_014468 VENTX EXON Nonsense_Q181X exm867853 10 135053773 [A/G] NM_014468 VENTX EXON Missense_G247D exm867855 10 135053784 [A/G] NM_014468 VENTX EXON Missense_M251V exm867871 10 135076676 [A/G] NM_001164490,NM_001109,NM_001164489 ADAM8,ADAM8,ADAM8 EXON Missense_A729V,Missense_A820V,Silent exm2276969 10 135077251 [G/C] NM_001164490,NM_001109,NM_001164489 ADAM8,ADAM8,ADAM8 EXON Silent,Missense_A780P,Missense_R724P exm867876 10 135077256 [A/G] NM_001164490,NM_001109,NM_001164489 ADAM8,ADAM8,ADAM8 EXON Silent,Missense_T778M,Synonymous_N722N exm867880 10 135080873 [A/G] NM_001164490,NM_001109,NM_001164489 ADAM8,ADAM8,ADAM8 EXON Missense_R703W,Missense_R768W,Missense_P712L exm867889 10 135081558 [T/C] NM_001164490,NM_001109,NM_001164489 ADAM8,ADAM8,ADAM8 EXON Missense_V645M,Missense_V710M,Missense_R654H exm867890 10 135081559 [A/G] NM_001164490,NM_001109,NM_001164489 ADAM8,ADAM8,ADAM8 EXON Synonymous_R644R,Synonymous_R709R,Missense_R654C exm867891 10 135081560 [T/C] NM_001164490,NM_001109,NM_001164489 ADAM8,ADAM8,ADAM8 EXON Missense_R644H,Missense_R709H,Synonymous_P653P exm867901 10 135082346 [A/G] NM_001164490,NM_001109,NM_001164489 ADAM8,ADAM8,ADAM8 EXON Missense_F592L,Missense_F657L,Silent exm867907 10 135082985 [A/G] NM_001164490,NM_001109,NM_001164489 ADAM8,ADAM8,ADAM8 EXON Missense_P573S,Missense_P638S,Missense_P638S exm867911 10 135083024 [A/G] NM_001164490,NM_001109,NM_001164489 ADAM8,ADAM8,ADAM8 EXON Missense_H560Y,Missense_H625Y,Missense_H625Y exm867922 10 135083880 [T/C] NM_001164490,NM_001109,NM_001164489 ADAM8,ADAM8,ADAM8 EXON Missense_R551Q,Missense_R590Q,Missense_R590Q exm867923 10 135083881 [A/G] NM_001164490,NM_001109,NM_001164489 ADAM8,ADAM8,ADAM8 EXON Missense_R551W,Missense_R590W,Missense_R590W exm867925 10 135083913 [A/C] NM_001164490,NM_001109,NM_001164489 ADAM8,ADAM8,ADAM8 EXON Missense_G540V,Missense_G579V,Missense_G579V exm867940 10 135084304 [A/G] NM_001164490,NM_001109,NM_001164489 ADAM8,ADAM8,ADAM8 EXON Nonsense_Q485X,Nonsense_Q524X,Nonsense_Q524X exm867951 10 135084481 [T/C] NM_001164490,NM_001109,NM_001164489 ADAM8,ADAM8,ADAM8 EXON Missense_A451T,Missense_A490T,Missense_A490T exm867964 10 135084781 [A/G] NM_001164490,NM_001109,NM_001164489 ADAM8,ADAM8,ADAM8 EXON Missense_R394C,Missense_R433C,Missense_R433C exm867970 10 135085088 [T/C] NM_001164490,NM_001109,NM_001164489 ADAM8,ADAM8,ADAM8 EXON Missense_V371M,Missense_V410M,Missense_V410M exm867987 10 135085344 [T/C] NM_001164490,NM_001109,NM_001164489 ADAM8,ADAM8,ADAM8 EXON Missense_E319K,Missense_E358K,Missense_E358K exm868011 10 135085954 [A/G] NM_001164490,NM_001109,NM_001164489 ADAM8,ADAM8,ADAM8 EXON Missense_R242W,Missense_R281W,Missense_R281W exm868033 10 135086766 [A/G] NM_001164490,NM_001109,NM_001164489 ADAM8,ADAM8,ADAM8 EXON Missense_R150W,Missense_R189W,Missense_R189W exm868042 10 135086935 [G/C] NM_001164490,NM_001109,NM_001164489 ADAM8,ADAM8,ADAM8 EXON Silent,Missense_Q132H,Missense_Q132H exm868044 10 135087295 [A/G] NM_001164490,NM_001109,NM_001164489 ADAM8,ADAM8,ADAM8 EXON Missense_R84C,Synonymous_A118A,Synonymous_A118A exm868045 10 135087305 [A/G] NM_001164490,NM_001109,NM_001164489 ADAM8,ADAM8,ADAM8 EXON Synonymous_P80P,Missense_P115L,Missense_P115L exm868051 10 135087460 [T/C] NM_001164490,NM_001109,NM_001164489 ADAM8,ADAM8,ADAM8 EXON Missense_R66Q,Missense_G101R,Missense_G101R exm2216918 10 135087482 [A/G] NM_001164490,NM_001109,NM_001164489 ADAM8,ADAM8,ADAM8 EXON Nonsense_R59X,Synonymous_S93S,Synonymous_S93S exm868060 10 135087521 [A/G] NM_001164490,NM_001109,NM_001164489 ADAM8,ADAM8,ADAM8 EXON Missense_L46F,Synonymous_G80G,Synonymous_G80G exm868068 10 135089017 [A/G] NM_001164490,NM_001109,NM_001164489 ADAM8,ADAM8,ADAM8 EXON Silent,Nonsense_R41X,Nonsense_R41X exm868072 10 135089035 [A/G] NM_001164490,NM_001109,NM_001164489 ADAM8,ADAM8,ADAM8 EXON Silent,Missense_W35R,Missense_W35R exm868076 10 135089077 [A/G] NM_001164490,NM_001109,NM_001164489 ADAM8,ADAM8,ADAM8 EXON Silent,Missense_R21W,Missense_R21W exm868078 10 135093287 [T/C] NM_001256617,NR_046330,NM_006659,NM_001256618 TUBGCP2,TUBGCP2,TUBGCP2,TUBGCP2 EXON Missense_A926T,Silent,Missense_A898T,Missense_A768T exm868096 10 135095746 [T/C] NM_001256617,NR_046330,NM_006659,NM_001256618 TUBGCP2,TUBGCP2,TUBGCP2,TUBGCP2 EXON Missense_R825Q,Silent,Missense_R797Q,Missense_R667Q exm868097 10 135095750 [T/C] NM_001256617,NR_046330,NM_006659,NM_001256618 TUBGCP2,TUBGCP2,TUBGCP2,TUBGCP2 EXON Missense_A824T,Silent,Missense_A796T,Missense_A666T exm2276135 10 135097449 [T/C] NM_001256617,NR_046330,NM_006659,NM_001256618 TUBGCP2,TUBGCP2,TUBGCP2,TUBGCP2 EXON Synonymous_Q722Q,Silent,Synonymous_Q694Q,Synonymous_Q564Q exm868119 10 135098641 [T/C] NM_001256617,NR_046330,NM_006659,NM_001256618 TUBGCP2,TUBGCP2,TUBGCP2,TUBGCP2 EXON Missense_V686I,Silent,Missense_V658I,Missense_V528I exm868132 10 135099030 [T/C] NM_001256617,NR_046330,NM_006659,NM_001256618 TUBGCP2,TUBGCP2,TUBGCP2,TUBGCP2 EXON Missense_A637T,Silent,Missense_A609T,Missense_A479T exm868134 10 135099038 [A/G] NM_001256617,NR_046330,NM_006659,NM_001256618 TUBGCP2,TUBGCP2,TUBGCP2,TUBGCP2 EXON Missense_T634M,Silent,Missense_T606M,Missense_T476M exm868135 10 135099053 [A/G] NM_001256617,NR_046330,NM_006659,NM_001256618 TUBGCP2,TUBGCP2,TUBGCP2,TUBGCP2 EXON Missense_A629V,Silent,Missense_A601V,Missense_A471V exm1675705 10 135102440 [T/C] NM_001256617,NR_046330,NM_006659,NM_001256618 TUBGCP2,TUBGCP2,TUBGCP2,TUBGCP2 EXON Missense_R510Q,Silent,Missense_R482Q,Missense_R352Q exm868161 10 135103451 [T/C] NM_001256617,NR_046330,NM_006659,NM_001256618 TUBGCP2,TUBGCP2,TUBGCP2,TUBGCP2 EXON Missense_E441K,Silent,Missense_E413K,Missense_E283K exm868178 10 135106072 [A/G] NM_001256617,NR_046330,NM_006659,NM_001256618 TUBGCP2,TUBGCP2,TUBGCP2,TUBGCP2 EXON Missense_A410V,Silent,Missense_A382V,Missense_A252V exm868181 10 135106102 [A/G] NM_001256617,NR_046330,NM_006659,NM_001256618 TUBGCP2,TUBGCP2,TUBGCP2,TUBGCP2 EXON Missense_A400V,Silent,Missense_A372V,Missense_A242V exm868184 10 135106172 [T/C] NM_001256617,NR_046330,NM_006659,NM_001256618 TUBGCP2,TUBGCP2,TUBGCP2,TUBGCP2 EXON Missense_E377K,Silent,Missense_E349K,Missense_E219K exm2249124 10 135106173 [A/G] NM_001256617,NR_046330,NM_006659,NM_001256618 TUBGCP2,TUBGCP2,TUBGCP2,TUBGCP2 EXON Synonymous_G376G,Silent,Synonymous_G348G,Synonymous_G218G exm868190 10 135106544 [A/G] NM_001256617,NR_046330,NM_006659,NM_001256618 TUBGCP2,TUBGCP2,TUBGCP2,TUBGCP2 EXON Synonymous_L369L,Silent,Synonymous_L341L,Synonymous_L211L exm868193 10 135106570 [A/G] NM_001256617,NR_046330,NM_006659,NM_001256618 TUBGCP2,TUBGCP2,TUBGCP2,TUBGCP2 EXON Missense_R361C,Silent,Missense_R333C,Missense_R203C exm868196 10 135106608 [A/G] NM_001256617,NR_046330,NM_006659,NM_001256618 TUBGCP2,TUBGCP2,TUBGCP2,TUBGCP2 EXON Missense_S348L,Silent,Missense_S320L,Missense_S190L exm868199 10 135106678 [A/G] NM_001256617,NR_046330,NM_006659,NM_001256618 TUBGCP2,TUBGCP2,TUBGCP2,TUBGCP2 EXON Missense_R325C,Silent,Missense_R297C,Missense_R167C exm868202 10 135106689 [A/G] NM_001256617,NR_046330,NM_006659,NM_001256618 TUBGCP2,TUBGCP2,TUBGCP2,TUBGCP2 EXON Missense_A321V,Silent,Missense_A293V,Missense_A163V exm868226 10 135111461 [A/G] NM_001256617,NR_046330,NM_006659,NM_001256618 TUBGCP2,TUBGCP2,TUBGCP2,TUBGCP2 EXON Missense_P204L,Silent,Missense_P204L,Missense_P74L exm868241 10 135113056 [T/C] NM_001256617,NR_046330,NM_006659,NM_001256618 TUBGCP2,TUBGCP2,TUBGCP2,TUBGCP2 EXON Missense_A111T,Silent,Missense_A111T,Silent exm868245 10 135113100 [T/C] NM_001256617,NR_046330,NM_006659,NM_001256618 TUBGCP2,TUBGCP2,TUBGCP2,TUBGCP2 EXON Missense_Q96R,Silent,Missense_Q96R,Silent exm868264 10 135116393 [T/C] NM_001256617,NR_046330,NM_006659,NM_001256618 TUBGCP2,TUBGCP2,TUBGCP2,TUBGCP2 EXON Missense_R18H,Silent,Missense_R18H,Silent exm868276 10 135122925 [A/C] NR_046330,NM_145806 TUBGCP2,ZNF511 EXON Silent,Missense_Q62P exm868284 10 135123377 [T/C] NR_046330,NM_145806 TUBGCP2,ZNF511 EXON Silent,Missense_C109R exm2216927 10 135123703 [C/G] NR_046330,NM_145806 TUBGCP2,ZNF511 EXON Silent,Missense_F155L exm868291 10 135123716 [A/G] NR_046330,NM_145806 TUBGCP2,ZNF511 EXON Silent,Missense_D160N exm868297 10 135125245 [T/G] NR_046330,NM_145806 TUBGCP2,ZNF511 EXON Silent,Missense_D194Y exm868318 10 135139570 [T/C] NM_015722 CALY EXON Missense_E139K exm868334 10 135141423 [T/C] NM_015722 CALY EXON Missense_E78K exm868336 10 135141519 [T/C] NM_015722 CALY EXON Missense_V46M exm868338 10 135142375 [A/G] NM_015722 CALY EXON Missense_P40L exm868356 10 135164930 [G/C] NM_001145201,NM_145202 PRAP1,PRAP1 EXON Missense_P41A,Missense_P41A exm868359 10 135165539 [T/C] NM_001145201,NM_145202 PRAP1,PRAP1 EXON Missense_P53S,Missense_P53S exm868360 10 135165540 [T/C] NM_001145201,NM_145202 PRAP1,PRAP1 EXON Missense_P53L,Missense_P53L exm868368 10 135165790 [A/G] NM_001145201,NM_145202 PRAP1,PRAP1 EXON Missense_H92R,Missense_H101R exm868373 10 135165835 [T/C] NM_001145201,NM_145202 PRAP1,PRAP1 EXON Missense_P107L,Missense_P116L exm868384 10 135168915 [T/G] NM_198472,NM_001098483 FUOM,FUOM EXON Silent,Missense_I142L exm868387 10 135168935 [A/G] NM_198472,NM_001098483 FUOM,FUOM EXON Silent,Missense_T135M exm868406 10 135170732 [A/G] NM_198472,NM_001098483 FUOM,FUOM EXON Missense_S38F,Missense_S38F exm1675811 10 135180455 [A/G] NM_004092 ECHS1 EXON Missense_S186L exm868442 10 135183408 [A/G] NM_004092 ECHS1 EXON Synonymous_A138A exm868455 10 135184126 [A/G] NM_004092 ECHS1 EXON Missense_T75I exm868461 10 135186806 [A/G] NM_004092 ECHS1 EXON Missense_V11A exm868478 10 135193551 [T/G] NM_207128,NM_152911,NM_207127 PAOX,PAOX,PAOX EXON Missense_G77V,Missense_G77V,Missense_G77V exm868522 10 135195148 [A/G] NM_207128,NM_152911,NM_207127 PAOX,PAOX,PAOX EXON Missense_V285I,Missense_V285I,Missense_V285I exm868539 10 135197680 [A/G] NM_207128,NM_152911,NM_207127 PAOX,PAOX,PAOX EXON Missense_R362Q,Missense_R362Q,Silent exm2216930 10 135202518 [C/G] NM_207128,NM_152911,NM_207127 PAOX,PAOX,PAOX EXON Missense_L394V,Missense_L394V,Synonymous_L309L exm868543 10 135202533 [A/G] NM_207128,NM_152911,NM_207127 PAOX,PAOX,PAOX EXON Missense_V399I,Missense_V399I,Synonymous_K314K exm868544 10 135202564 [A/G] NM_207128,NM_152911,NM_207127 PAOX,PAOX,PAOX EXON Missense_R409K,Missense_R409K,Missense_E325K exm868548 10 135203135 [T/C] NM_207128,NM_152911,NM_207127 PAOX,PAOX,PAOX EXON Silent,Missense_R426C,Silent exm868566 10 135204872 [T/C] NM_207128,NM_152911,NM_207127 PAOX,PAOX,PAOX EXON Missense_R431W,Synonymous_H483H,Silent exm868574 10 135204950 [G/C] NM_207128,NM_152911,NM_207127 PAOX,PAOX,PAOX EXON Missense_Q457E,Synonymous_P509P,Silent exm868589 10 135209241 [T/A] NM_138384 MTG1 EXON Missense_L46Q exm868590 10 135209255 [T/G] NM_138384 MTG1 EXON Missense_C51G exm868596 10 135209680 [C/G] NM_138384 MTG1 EXON Missense_G64A exm868609 10 135212681 [T/C] NM_138384 MTG1 EXON Missense_P124L exm868622 10 135215032 [C/G] NM_138384 MTG1 Silent exm2249125 10 135215667 [T/C] NM_138384 MTG1 EXON Synonymous_P196P exm868632 10 135215695 [A/G] NM_138384 MTG1 EXON Missense_V206M exm868655 10 135233095 [A/G] NM_138384 MTG1 EXON Synonymous_T288T exm868659 10 135233541 [A/G] NM_138384 MTG1 EXON Missense_I293V exm868671 10 135233646 [T/C] NM_138384 MTG1 EXON Missense_P328S exm1675891 10 135342034 [A/G] NM_000773 CYP2E1 EXON Missense_R76H exm868732 10 135345127 [T/C] NM_000773 CYP2E1 EXON Missense_R126W exm868742 10 135345633 [G/C] NM_000773 CYP2E1 EXON Missense_P165A exm868746 10 135345657 [A/G] NM_000773 CYP2E1 EXON Missense_G173S exm868747 10 135345675 [A/G] NM_000773 CYP2E1 EXON Missense_V179I exm1675899 10 135345697 [A/G] NM_000773 CYP2E1 EXON Missense_R186H exm2216933 10 135346202 [A/G] NM_000773 CYP2E1 EXON Missense_N219D exm868780 10 135350716 [A/G] NM_000773 CYP2E1 EXON Missense_T373A exm868786 10 135351264 [A/G] NM_000773 CYP2E1 EXON Missense_V389I exm868787 10 135351280 [A/G] NM_000773 CYP2E1 EXON Missense_D394G exm868788 10 135351285 [G/C] NM_000773 CYP2E1 EXON Missense_V396L exm868789 10 135351352 [A/G] NM_000773 CYP2E1 EXON Missense_N418S exm868796 10 135352356 [T/A] NM_000773 CYP2E1 EXON Missense_H457L exm868806 10 135367823 [G/C] NM_001143763,NM_130784 SYCE1,SYCE1 EXON Missense_P310A,Missense_P274A exm868813 10 135368540 [T/C] NM_001143763,NM_130784,NM_001143764 SYCE1,SYCE1,SYCE1 EXON Silent,Silent,Missense_D338N exm868814 10 135368543 [G/C] NM_001143763,NM_130784,NM_001143764 SYCE1,SYCE1,SYCE1 EXON Silent,Silent,Missense_P337A exm868815 10 135368590 [T/C] NM_001143763,NM_130784,NM_001143764 SYCE1,SYCE1,SYCE1 EXON Silent,Silent,Missense_H321R exm868821 10 135368893 [A/G] NM_001143763,NM_130784,NM_001143764 SYCE1,SYCE1,SYCE1 EXON Nonsense_Q294X,Nonsense_Q258X,Nonsense_Q294X exm868833 10 135369152 [T/C] NM_001143763,NM_130784,NM_001143764 SYCE1,SYCE1,SYCE1 EXON Missense_R260H,Missense_R224H,Missense_R260H exm868834 10 135369153 [A/G] NM_001143763,NM_130784,NM_001143764 SYCE1,SYCE1,SYCE1 EXON Missense_R260C,Missense_R224C,Missense_R260C exm868838 10 135369294 [A/C] NM_001143763,NM_130784,NM_001143764 SYCE1,SYCE1,SYCE1 EXON Missense_A237S,Missense_A201S,Missense_A237S exm868844 10 135369392 [A/G] NM_001143763,NM_130784,NM_001143764 SYCE1,SYCE1,SYCE1 EXON Missense_A204V,Missense_A168V,Missense_A204V exm868845 10 135369393 [T/C] NM_001143763,NM_130784,NM_001143764 SYCE1,SYCE1,SYCE1 EXON Missense_A204T,Missense_A168T,Missense_A204T exm868850 10 135369532 [T/C] NM_001143763,NM_130784,NM_001143764 SYCE1,SYCE1,SYCE1 EXON Missense_K183R,Missense_K147R,Missense_K183R exm868855 10 135370263 [A/G] NM_001143763,NM_130784,NM_001143764 SYCE1,SYCE1,SYCE1 EXON Synonymous_H176H,Synonymous_H140H,Synonymous_H176H exm868865 10 135370639 [A/C] NM_001143763,NM_130784,NM_001143764 SYCE1,SYCE1,SYCE1 EXON Missense_E132D,Missense_E96D,Missense_E132D exm868875 10 135371369 [T/C] NM_001143763,NM_130784,NM_001143764 SYCE1,SYCE1,SYCE1 EXON Missense_R125G,Missense_R89G,Missense_R125G exm868878 10 135371416 [A/C] NM_001143763,NM_130784,NM_001143764 SYCE1,SYCE1,SYCE1 EXON Missense_L109R,Missense_L73R,Missense_L109R exm868893 10 135372380 [T/C] NM_001143763,NM_130784,NM_001143764 SYCE1,SYCE1,SYCE1 Silent,Silent,Silent exm868894 10 135372381 [A/G] NM_001143763,NM_130784,NM_001143764 SYCE1,SYCE1,SYCE1 EXON Synonymous_L91L,Synonymous_L55L,Synonymous_L91L exm868896 10 135372419 [T/C] NM_001143763,NM_130784,NM_001143764 SYCE1,SYCE1,SYCE1 EXON Missense_R78Q,Missense_R42Q,Missense_R78Q exm868897 10 135372420 [A/G] NM_001143763,NM_130784,NM_001143764 SYCE1,SYCE1,SYCE1 EXON Missense_R78W,Missense_R42W,Missense_R78W exm868901 10 135372825 [T/C] NM_001143763,NM_130784,NM_001143764 SYCE1,SYCE1,SYCE1 EXON Missense_R59Q,Missense_R23Q,Missense_R59Q exm868911 10 135373606 [T/C] NM_001143763,NM_130784,NM_001143764 SYCE1,SYCE1,SYCE1 EXON Missense_K42R,Missense_K6R,Missense_K42R exm868913 10 135373648 [A/G] NM_001143763,NM_130784,NM_001143764 SYCE1,SYCE1,SYCE1 EXON Missense_T28M,Silent,Missense_T28M exm2264410 10 135379710 [A/C] NM_130784 SYCE1 Silent exm2267070 10 135428246 [A/G] exm868953 10 135439095 [A/T] NM_001080998 FRG2B EXON Missense_E115D exm869284 11 193146 [A/G] NM_001097610,NM_145651 LOC653486,SCGB1C1 EXON Missense_C16Y,Missense_C16Y exm869285 11 193154 [T/C] NM_001097610,NM_145651 LOC653486,SCGB1C1 EXON Missense_R19W,Missense_R19W exm869293 11 193774 [A/G] NM_001097610,NM_145651 LOC653486,SCGB1C1 EXON Missense_G40R,Missense_G40R exm869294 11 193797 [C/G] NM_001097610,NM_145651 LOC653486,SCGB1C1 EXON Missense_E47D,Missense_E47D exm869296 11 193808 [T/G] NM_001097610,NM_145651 LOC653486,SCGB1C1 EXON Missense_G51V,Missense_G51V exm869313 11 197350 [T/C] NM_053280 ODF3 EXON Missense_R16W exm869318 11 197576 [T/C] NM_053280 ODF3 EXON Missense_T42M exm869324 11 197681 [T/G] NM_053280 ODF3 EXON Missense_L77R exm869326 11 197698 [T/C] NM_053280 ODF3 EXON Missense_L83F exm869328 11 197725 [T/C] NM_053280 ODF3 EXON Missense_R92C exm869333 11 198231 [A/G] NM_053280 ODF3 EXON Missense_V115M exm869351 11 198547 [T/C] NM_053280 ODF3 EXON Missense_R166C exm869362 11 199402 [A/G] NM_053280 ODF3 EXON Missense_V190M exm869363 11 199441 [A/G] NM_053280 ODF3 EXON Missense_A203T exm869364 11 199444 [T/G] NM_053280 ODF3 EXON Missense_A204S exm869367 11 199492 [A/G] NM_053280 ODF3 EXON Missense_A220T exm869379 11 200020 [T/C] NM_053280 ODF3 EXON Missense_V251A exm-rs11602954 11 202856 [A/G] exm869389 11 205389 [C/G] NM_016526,NM_001098787 BET1L,BET1L EXON Silent,Missense_D83E exm869398 11 205559 [A/G] NM_016526,NM_001098787 BET1L,BET1L EXON Missense_C74R,Silent exm1705592 11 205592 [A/G] NM_016526,NM_001098787 BET1L,BET1L EXON Missense_R63C,Silent exm869402 11 205622 [C/G] NM_016526,NM_001098787 BET1L,BET1L EXON Missense_L53V,Missense_L53V exm869418 11 206008 [A/G] NM_016526,NM_001098787 BET1L,BET1L EXON Missense_R19W,Missense_R19W exm2218421 11 206029 [A/C] NM_016526,NM_001098787 BET1L,BET1L EXON Missense_A12S,Missense_A12S exm869419 11 206034 [A/G] NM_016526,NM_001098787 BET1L,BET1L EXON Missense_P10L,Missense_P10L exm869440 11 209425 [G/C] NM_021932 RIC8A EXON Missense_V51L exm869453 11 209695 [C/G] NM_021932 RIC8A EXON Missense_V141L exm869454 11 209749 [A/G] NM_021932 RIC8A EXON Missense_D159N exm869460 11 209897 [A/C] NM_021932 RIC8A EXON Missense_P208H exm869463 11 209938 [A/G] NM_021932 RIC8A EXON Missense_M222V exm869469 11 210583 [T/C] NM_021932 RIC8A EXON Missense_L247F exm869476 11 210651 [C/G] NM_021932 RIC8A EXON Missense_E269D exm869477 11 210660 [C/G] NM_021932 RIC8A EXON Missense_H272Q exm869479 11 211203 [A/G] NM_021932 RIC8A EXON Missense_A275T exm869493 11 212479 [T/C] NM_021932 RIC8A EXON Missense_H345Y exm869503 11 212839 [T/C] NM_021932 RIC8A EXON Missense_P411S exm869504 11 212840 [T/C] NM_021932 RIC8A EXON Missense_P411L exm1705799 11 213397 [T/C] NM_021932 RIC8A EXON Missense_T491I exm869515 11 214265 [A/G] NM_021932 RIC8A EXON Missense_R510Q exm869534 11 218848 [T/C] NM_012239,NM_001017524 SIRT3,SIRT3 EXON Missense_Q388R,Missense_Q246R exm869536 11 218874 [C/G] NM_012239,NM_001017524 SIRT3,SIRT3 EXON Missense_W379C,Missense_W237C exm869539 11 218906 [T/C] NM_012239,NM_001017524 SIRT3,SIRT3 EXON Missense_G369S,Missense_G227S exm869547 11 219011 [T/C] NM_012239,NM_001017524 SIRT3,SIRT3 EXON Missense_V334M,Missense_V192M exm869557 11 224181 [T/G] NM_012239,NM_001017524 SIRT3,SIRT3 EXON Missense_P289H,Missense_P147H exm869558 11 224194 [T/C] NM_012239,NM_001017524 SIRT3,SIRT3 EXON Missense_G285S,Missense_G143S exm869560 11 224211 [T/C] NM_012239,NM_001017524 SIRT3,SIRT3 EXON Missense_R279H,Missense_R137H exm869568 11 230474 [T/G] NM_012239,NM_001017524 SIRT3,SIRT3 EXON Missense_P262H,Missense_P120H exm869579 11 233067 [T/C] NM_012239,NM_001017524 SIRT3,SIRT3 EXON Missense_V208I,Missense_V66I exm869600 11 233380 [A/C] NM_012239,NM_001017524 SIRT3,SIRT3 EXON Missense_A146S,Missense_A4S exm869611 11 236091 [A/G] NM_012239,NM_001017524 SIRT3,SIRT3 EXON Missense_R80W,Silent exm869620 11 236306 [A/G] NM_012239,NM_001017524 SIRT3,SIRT3 EXON Missense_A8V,Silent exm869628 11 237087 [A/G] NM_002817,NM_175932 PSMD13,PSMD13 EXON Missense_N13S,Missense_N13S exm869629 11 237095 [T/C] NM_002817,NM_175932 PSMD13,PSMD13 EXON Missense_P16S,Missense_P16S exm869637 11 244106 [A/G] NM_002817,NM_175932 PSMD13,PSMD13 EXON Silent,Missense_E54G exm869638 11 244108 [A/G] NM_002817,NM_175932 PSMD13,PSMD13 EXON Silent,Missense_N55D exm869639 11 244115 [A/G] NM_002817,NM_175932 PSMD13,PSMD13 EXON Silent,Missense_C57Y exm869640 11 244129 [T/C] NM_002817,NM_175932 PSMD13,PSMD13 EXON Silent,Missense_R62W exm869641 11 244141 [A/G] NM_002817,NM_175932 PSMD13,PSMD13 EXON Silent,Missense_A66T exm869654 11 247307 [A/G] NM_002817,NM_175932 PSMD13,PSMD13 EXON Missense_N143D,Missense_N145D exm869656 11 247329 [T/C] NM_002817,NM_175932 PSMD13,PSMD13 EXON Missense_S150L,Missense_S152L exm869659 11 247377 [T/C] NM_002817,NM_175932 PSMD13,PSMD13 EXON Missense_I166T,Missense_I168T exm869670 11 248855 [T/C] NM_002817,NM_175932 PSMD13,PSMD13 EXON Synonymous_L216L,Synonymous_L218L exm869675 11 248972 [A/G] NM_002817,NM_175932 PSMD13,PSMD13 EXON Missense_R230Q,Missense_R232Q exm869677 11 249023 [A/G] NM_002817,NM_175932 PSMD13,PSMD13 EXON Missense_R247Q,Missense_R249Q exm869678 11 249027 [C/G] NM_002817,NM_175932 PSMD13,PSMD13 EXON Missense_F248L,Missense_F250L exm869696 11 252565 [A/C] NM_002817,NM_175932 PSMD13,PSMD13 EXON Missense_L366M,Missense_L368M exm869732 11 280464 [C/G] NM_001276700,NM_138329 NLRP6,NLRP6 EXON Missense_P244A,Missense_P244A exm869773 11 281283 [A/G] NM_001276700,NM_138329 NLRP6,NLRP6 EXON Missense_G517R,Missense_G517R exm869782 11 281494 [T/C] NM_001276700,NM_138329 NLRP6,NLRP6 EXON Missense_P587L,Missense_P587L exm869795 11 281692 [G/C] NM_001276700,NM_138329 NLRP6,NLRP6 EXON Missense_R653P,Missense_R653P exm869805 11 282797 [T/C] NM_001276700,NM_138329 NLRP6,NLRP6 EXON Missense_T733M,Missense_T734M exm869808 11 284255 [A/G] NM_001276700,NM_138329 NLRP6,NLRP6 EXON Missense_A742T,Missense_A743T exm869809 11 284256 [T/C] NM_001276700,NM_138329 NLRP6,NLRP6 EXON Missense_A742V,Missense_A743V exm869811 11 284264 [T/C] NM_001276700,NM_138329 NLRP6,NLRP6 EXON Nonsense_R745X,Nonsense_R746X exm869817 11 284297 [A/G] NM_001276700,NM_138329 NLRP6,NLRP6 EXON Missense_A756T,Missense_A757T exm2259761 11 284299 [A/G] NM_001276700,NM_138329 NLRP6,NLRP6 EXON Synonymous_A756A,Synonymous_A757A exm869820 11 284328 [C/G] NM_001276700,NM_138329 NLRP6,NLRP6 EXON Missense_R766T,Missense_R767T exm869832 11 284477 [T/C] NM_001276700,NM_138329 NLRP6,NLRP6 EXON Missense_V791A,Missense_V792A exm869834 11 284498 [A/G] NM_001276700,NM_138329 NLRP6,NLRP6 EXON Missense_R798Q,Missense_R799Q exm869836 11 284503 [T/C] NM_001276700,NM_138329 NLRP6,NLRP6 EXON Missense_L800F,Missense_L801F exm869843 11 284563 [A/G] NM_001276700,NM_138329 NLRP6,NLRP6 EXON Missense_G820S,Missense_G821S exm2274449 11 284636 [T/C] NM_001276700,NM_138329 NLRP6,NLRP6 EXON Missense_T844I,Missense_T845I exm869851 11 285188 [A/G] NM_001276700,NM_138329 NLRP6,NLRP6 EXON Missense_E854K,Missense_E855K exm1707283 11 285234 [A/G] NM_001276700,NM_138329 NLRP6,NLRP6 EXON Missense_D869G,Missense_D870G exm869857 11 285263 [A/G] NM_001276700,NM_138329 NLRP6,NLRP6 EXON Missense_G879S,Missense_G880S exm869869 11 290494 [T/C] NM_025092 ATHL1 EXON Missense_R122C exm869880 11 290715 [A/G] NM_025092 ATHL1 EXON Missense_G170R exm2218463 11 290736 [T/C] NM_025092 ATHL1 EXON Missense_H177Y exm869892 11 290901 [A/G] NM_025092 ATHL1 EXON Missense_A232T exm869893 11 290913 [A/G] NM_025092 ATHL1 EXON Missense_A236T exm869907 11 292043 [A/G] NM_025092 ATHL1 EXON Missense_R325H exm869912 11 292060 [A/G] NM_025092 ATHL1 EXON Missense_G331R exm869922 11 292667 [A/G] NM_025092 ATHL1 EXON Missense_H383R exm869924 11 292887 [A/G] NM_025092 ATHL1 EXON Missense_D387G exm869925 11 292892 [A/C] NM_025092 ATHL1 EXON Missense_Q389K exm869930 11 292962 [A/C] NM_025092 ATHL1 EXON Missense_E412A exm869931 11 292973 [A/G] NM_025092 ATHL1 EXON Missense_R416G exm869936 11 293210 [T/C] NM_025092 ATHL1 EXON Missense_Y440H exm869960 11 293873 [A/G] NM_025092 ATHL1 EXON Missense_R553Q exm869961 11 293878 [T/C] NM_025092 ATHL1 EXON Missense_R555W exm869963 11 293914 [A/G] NM_025092 ATHL1 EXON Missense_E567K exm869969 11 294120 [A/G] NM_025092 ATHL1 EXON Missense_G578R exm869977 11 294308 [T/C] NM_025092 ATHL1 EXON Missense_S617L exm869978 11 294323 [T/G] NM_025092 ATHL1 EXON Missense_V622G exm869981 11 294376 [A/G] NM_025092 ATHL1 EXON Missense_E640K exm869984 11 294386 [T/A] NM_025092 ATHL1 EXON Missense_V643E exm869988 11 294409 [C/G] NM_025092 ATHL1 EXON Missense_A651P exm869995 11 294576 [T/C] NM_025092 ATHL1 EXON Missense_R681C exm869999 11 294670 [T/C] NM_025092 ATHL1 EXON Missense_P712L exm870000 11 294727 [T/C] NM_025092 ATHL1 EXON Missense_T731I exm870007 11 298542 [T/C] NM_001025295 IFITM5 EXON Missense_A120T exm870008 11 298562 [T/C] NM_001025295 IFITM5 EXON Missense_R113Q exm1707555 11 298622 [A/G] NM_001025295 IFITM5 EXON Missense_T93M exm870015 11 298658 [T/C] NM_001025295 IFITM5 EXON Missense_K81R exm870016 11 298670 [T/C] NM_001025295 IFITM5 EXON Missense_R77H exm870019 11 298709 [T/C] NM_001025295 IFITM5 EXON Missense_R64Q exm870027 11 299396 [A/G] NM_001025295 IFITM5 EXON Missense_P32L exm870028 11 299400 [T/G] NM_001025295 IFITM5 EXON Missense_P31T exm1707571 11 299405 [A/G] NM_001025295 IFITM5 EXON Missense_P29L exm870038 11 308232 [A/G] NM_006435 IFITM2 EXON Missense_G14S exm870066 11 309114 [A/G] NM_006435 IFITM2 EXON Missense_M116I exm870077 11 314253 [A/G] NM_003641 IFITM1 EXON Missense_H28R exm870083 11 314356 [A/G] NM_003641 IFITM1 EXON Synonymous_K62K exm870092 11 315073 [A/G] NM_003641 IFITM1 EXON Missense_H113R exm870093 11 315095 [C/G] NM_003641 IFITM1 EXON Missense_Q120H exm870122 11 320805 [T/G] NR_049759,NM_021034 IFITM3,IFITM3 EXON Silent,Missense_H3Q exm2218544 11 372138 [A/G] NM_178537 B4GALNT4 EXON Missense_G61S exm870129 11 372157 [T/C] NM_178537 B4GALNT4 EXON Missense_A67V exm870135 11 372671 [T/C] NM_178537 B4GALNT4 EXON Missense_R89W exm870138 11 372709 [G/C] NM_178537 B4GALNT4 EXON Missense_R101S exm870147 11 373027 [T/C] NM_178537 B4GALNT4 EXON Missense_T149M exm870159 11 373492 [A/G] NM_178537 B4GALNT4 EXON Missense_S227N exm870162 11 373516 [A/G] NM_178537 B4GALNT4 EXON Missense_R235Q exm870170 11 373802 [T/C] NM_178537 B4GALNT4 EXON Missense_R253C exm870172 11 373809 [T/C] NM_178537 B4GALNT4 EXON Missense_S255L exm870175 11 373828 [T/C] NM_178537 B4GALNT4 EXON Synonymous_G261G exm2218549 11 376143 [T/G] NM_178537 B4GALNT4 EXON Missense_F389V exm870211 11 376331 [A/T] NM_178537 B4GALNT4 EXON Missense_F426Y exm870212 11 376343 [A/G] NM_178537 B4GALNT4 EXON Missense_N430S exm870215 11 376350 [T/C] NM_178537 B4GALNT4 EXON Synonymous_D432D exm870220 11 376438 [A/G] NM_178537 B4GALNT4 EXON Missense_D439N exm870221 11 376439 [A/T] NM_178537 B4GALNT4 EXON Missense_D439V exm870267 11 377278 [A/G] NM_178537 B4GALNT4 EXON Missense_V719M exm870282 11 379932 [A/G] NM_178537 B4GALNT4 EXON Missense_G852E exm870285 11 379949 [G/C] NM_178537 B4GALNT4 EXON Missense_V858L exm870309 11 381754 [A/G] NM_178537 B4GALNT4 EXON Missense_V1028I exm870324 11 396656 [A/G] NM_007183 PKP3 EXON Missense_R94H exm870326 11 396674 [A/G] NM_007183 PKP3 EXON Missense_G100E exm870344 11 396985 [A/G] NM_007183 PKP3 EXON Missense_V162M exm870345 11 397003 [A/G] NM_007183 PKP3 EXON Missense_G168S exm870346 11 397018 [T/C] NM_007183 PKP3 EXON Missense_R173W exm870350 11 397045 [T/C] NM_007183 PKP3 EXON Missense_R182C exm870352 11 397054 [T/C] NM_007183 PKP3 EXON Missense_R185W exm1709208 11 397082 [A/G] NM_007183 PKP3 EXON Missense_R194H exm870371 11 397390 [T/G] NM_007183 PKP3 EXON Missense_V297L exm870380 11 398996 [A/G] NM_007183 PKP3 EXON Missense_R358H exm870382 11 399010 [A/G] NM_007183 PKP3 EXON Missense_V363M exm870385 11 399058 [T/C] NM_007183 PKP3 EXON Missense_R379C exm870392 11 399181 [T/C] NM_007183 PKP3 EXON Missense_R420C exm870400 11 400059 [G/C] NM_007183 PKP3 EXON Missense_L456V exm870408 11 400124 [C/G] NM_007183 PKP3 EXON Missense_N477K exm870423 11 403147 [T/G] NM_007183 PKP3 EXON Missense_W603G exm870424 11 403150 [A/G] NM_007183 PKP3 EXON Missense_S604G exm870442 11 403711 [T/C] NM_007183 PKP3 EXON Missense_R673C exm870444 11 403723 [A/G] NM_007183 PKP3 EXON Missense_G677S exm870455 11 403981 [A/G] NM_007183 PKP3 EXON Missense_G706S exm870466 11 404129 [A/G] NM_007183 PKP3 EXON Missense_R755Q exm870472 11 404541 [T/A] NM_007183 PKP3 EXON Missense_Y789F exm870485 11 405958 [G/C] NM_001135054,NM_001135053,NM_021805 SIGIRR,SIGIRR,SIGIRR EXON Missense_G391R,Missense_G391R,Missense_G391R exm870486 11 406018 [T/G] NM_001135054,NM_001135053,NM_021805 SIGIRR,SIGIRR,SIGIRR EXON Missense_H371N,Missense_H371N,Missense_H371N exm870497 11 406483 [T/C] NM_001135054,NM_001135053,NM_021805 SIGIRR,SIGIRR,SIGIRR EXON Missense_Q312R,Missense_Q312R,Missense_Q312R exm870500 11 406507 [T/G] NM_001135054,NM_001135053,NM_021805 SIGIRR,SIGIRR,SIGIRR EXON Missense_Q304P,Missense_Q304P,Missense_Q304P exm870513 11 407083 [C/G] NM_001135054,NM_001135053,NM_021805 SIGIRR,SIGIRR,SIGIRR EXON Missense_A236G,Missense_A236G,Missense_A236G exm870533 11 408171 [C/G] NM_001135054,NM_001135053,NM_021805 SIGIRR,SIGIRR,SIGIRR EXON Missense_S81T,Missense_S81T,Missense_S81T exm870534 11 408174 [T/G] NM_001135054,NM_001135053,NM_021805 SIGIRR,SIGIRR,SIGIRR EXON Missense_S80Y,Missense_S80Y,Missense_S80Y exm870539 11 408725 [G/C] NM_001135054,NM_001135053,NM_021805 SIGIRR,SIGIRR,SIGIRR EXON Missense_G59A,Missense_G59A,Missense_G59A exm870568 11 418421 [T/C] NM_001012302 ANO9 EXON Missense_A767T exm1709465 11 418427 [T/C] NM_001012302 ANO9 EXON Missense_M765V exm870573 11 418531 [A/G] NM_001012302 ANO9 EXON Missense_S730L exm2249839 11 418792 [A/G] NM_001012302 ANO9 EXON Synonymous_P686P exm870584 11 418792 [A/G] NM_001012302 ANO9 EXON Synonymous_P686P exm870593 11 419706 [T/C] NM_001012302 ANO9 EXON Missense_T604A exm870630 11 428176 [A/G] NM_001012302 ANO9 EXON Nonsense_R416X exm870634 11 428359 [A/G] NM_001012302 ANO9 EXON Synonymous_F407F exm870638 11 428396 [T/G] NM_001012302 ANO9 Silent exm870640 11 428489 [T/C] NM_001012302 ANO9 EXON Missense_I391V exm2249848 11 428529 [A/G] NM_001012302 ANO9 EXON Synonymous_A377A exm870647 11 428582 [T/C] NM_001012302 ANO9 EXON Missense_A360T exm870654 11 428757 [A/G] NM_001012302 ANO9 EXON Missense_R329C exm870655 11 428780 [T/C] NM_001012302 ANO9 EXON Missense_R321Q exm2249850 11 430104 [T/C] NM_001012302 ANO9 EXON Synonymous_S250S exm870686 11 430281 [A/G] NM_001012302 ANO9 EXON Missense_A221V exm870688 11 430339 [C/G] NM_001012302 ANO9 EXON Missense_V202L exm870698 11 431757 [T/C] NM_001012302 ANO9 EXON Missense_R159H exm870711 11 431908 [T/C] NM_001012302 ANO9 Silent exm870723 11 433387 [A/G] NM_001012302 ANO9 EXON Missense_F93L exm870725 11 433401 [T/C] NM_001012302 ANO9 EXON Missense_G88D exm870726 11 433417 [T/C] NM_001012302 ANO9 EXON Missense_D83N exm870729 11 433867 [A/G] NM_001012302 ANO9 EXON Missense_A51V exm870731 11 433873 [T/C] NM_001012302 ANO9 EXON Missense_R49Q exm870733 11 433894 [T/C] NM_001012302 ANO9 EXON Missense_R42H exm870736 11 433904 [T/C] NM_001012302 ANO9 EXON Missense_V39M exm870746 11 434095 [T/C] NM_001012302 ANO9 EXON Missense_E4K exm870770 11 479108 [A/G] NM_030783 PTDSS2 EXON Missense_V131M exm870797 11 488541 [A/G] NM_030783 PTDSS2 EXON Missense_V250M exm870808 11 489480 [A/G] NM_030783 PTDSS2 EXON Missense_R312H exm870816 11 489733 [T/C] NM_030783 PTDSS2 EXON Missense_P372L exm2218699 11 494731 [A/G] NM_203384,NM_203386,NM_002939,NM_203385,NM_203383,NM_203389,NM_203388,NM_203387 RNH1,RNH1,RNH1,RNH1,RNH1,RNH1,RNH1,RNH1 EXON Missense_A449V,Missense_A449V,Missense_A449V,Missense_A449V,Missense_A449V,Missense_A449V,Missense_A449V,Missense_A449V exm870858 11 495007 [T/C] NM_203384,NM_203386,NM_002939,NM_203385,NM_203383,NM_203389,NM_203388,NM_203387 RNH1,RNH1,RNH1,RNH1,RNH1,RNH1,RNH1,RNH1 EXON Missense_A392T,Missense_A392T,Missense_A392T,Missense_A392T,Missense_A392T,Missense_A392T,Missense_A392T,Missense_A392T exm870864 11 497995 [A/G] NM_203384,NM_203386,NM_002939,NM_203385,NM_203383,NM_203389,NM_203388,NM_203387 RNH1,RNH1,RNH1,RNH1,RNH1,RNH1,RNH1,RNH1 EXON Missense_P368L,Missense_P368L,Missense_P368L,Missense_P368L,Missense_P368L,Missense_P368L,Missense_P368L,Missense_P368L exm2249911 11 498117 [A/G] NM_203384,NM_203386,NM_002939,NM_203385,NM_203383,NM_203389,NM_203388,NM_203387 RNH1,RNH1,RNH1,RNH1,RNH1,RNH1,RNH1,RNH1 EXON Synonymous_A327A,Synonymous_A327A,Synonymous_A327A,Synonymous_A327A,Synonymous_A327A,Synonymous_A327A,Synonymous_A327A,Synonymous_A327A exm870873 11 498463 [A/G] NM_203384,NM_203386,NM_002939,NM_203385,NM_203383,NM_203389,NM_203388,NM_203387 RNH1,RNH1,RNH1,RNH1,RNH1,RNH1,RNH1,RNH1 EXON Missense_S317L,Missense_S317L,Missense_S317L,Missense_S317L,Missense_S317L,Missense_S317L,Missense_S317L,Missense_S317L exm870879 11 498560 [T/C] NM_203384,NM_203386,NM_002939,NM_203385,NM_203383,NM_203389,NM_203388,NM_203387 RNH1,RNH1,RNH1,RNH1,RNH1,RNH1,RNH1,RNH1 EXON Missense_S285G,Missense_S285G,Missense_S285G,Missense_S285G,Missense_S285G,Missense_S285G,Missense_S285G,Missense_S285G exm870880 11 498581 [A/G] NM_203384,NM_203386,NM_002939,NM_203385,NM_203383,NM_203389,NM_203388,NM_203387 RNH1,RNH1,RNH1,RNH1,RNH1,RNH1,RNH1,RNH1 EXON Missense_R278C,Missense_R278C,Missense_R278C,Missense_R278C,Missense_R278C,Missense_R278C,Missense_R278C,Missense_R278C exm870890 11 498911 [A/G] NM_203384,NM_203386,NM_002939,NM_203385,NM_203383,NM_203389,NM_203388,NM_203387 RNH1,RNH1,RNH1,RNH1,RNH1,RNH1,RNH1,RNH1 EXON Missense_S213P,Missense_S213P,Missense_S213P,Missense_S213P,Missense_S213P,Missense_S213P,Missense_S213P,Missense_S213P exm870891 11 498920 [T/C] NM_203384,NM_203386,NM_002939,NM_203385,NM_203383,NM_203389,NM_203388,NM_203387 RNH1,RNH1,RNH1,RNH1,RNH1,RNH1,RNH1,RNH1 EXON Missense_G210S,Missense_G210S,Missense_G210S,Missense_G210S,Missense_G210S,Missense_G210S,Missense_G210S,Missense_G210S exm870898 11 499066 [T/C] NM_203384,NM_203386,NM_002939,NM_203385,NM_203383,NM_203389,NM_203388,NM_203387 RNH1,RNH1,RNH1,RNH1,RNH1,RNH1,RNH1,RNH1 EXON Missense_R188H,Missense_R188H,Missense_R188H,Missense_R188H,Missense_R188H,Missense_R188H,Missense_R188H,Missense_R188H exm2276137 11 499088 [A/C] NM_203384,NM_203386,NM_002939,NM_203385,NM_203383,NM_203389,NM_203388,NM_203387 RNH1,RNH1,RNH1,RNH1,RNH1,RNH1,RNH1,RNH1 EXON Missense_D181Y,Missense_D181Y,Missense_D181Y,Missense_D181Y,Missense_D181Y,Missense_D181Y,Missense_D181Y,Missense_D181Y exm870916 11 499844 [T/C] NM_203384,NM_203386,NM_002939,NM_203385,NM_203383,NM_203389,NM_203388,NM_203387 RNH1,RNH1,RNH1,RNH1,RNH1,RNH1,RNH1,RNH1 EXON Missense_R143H,Missense_R143H,Missense_R143H,Missense_R143H,Missense_R143H,Missense_R143H,Missense_R143H,Missense_R143H exm870924 11 499965 [T/C] NM_203384,NM_203386,NM_002939,NM_203385,NM_203383,NM_203389,NM_203388,NM_203387 RNH1,RNH1,RNH1,RNH1,RNH1,RNH1,RNH1,RNH1 EXON Missense_G103R,Missense_G103R,Missense_G103R,Missense_G103R,Missense_G103R,Missense_G103R,Missense_G103R,Missense_G103R exm1713164 11 500566 [A/G] NM_203384,NM_203386,NM_002939,NM_203385,NM_203383,NM_203389,NM_203388,NM_203387 RNH1,RNH1,RNH1,RNH1,RNH1,RNH1,RNH1,RNH1 EXON Missense_R64C,Missense_R64C,Missense_R64C,Missense_R64C,Missense_R64C,Missense_R64C,Missense_R64C,Missense_R64C exm870954 11 532700 [T/C] NM_001130442,NM_176795,NM_005343 HRAS,HRAS,HRAS EXON Missense_R169Q,Silent,Missense_R169Q exm870961 11 533357 [C/G] NM_001130442,NM_176795,NM_005343 HRAS,HRAS,HRAS EXON Silent,Missense_G151A,Silent exm870989 11 540719 [A/G] NM_198075 LRRC56 EXON Missense_R12Q exm870990 11 540740 [A/G] NM_198075 LRRC56 EXON Missense_R19Q exm2276138 11 541550 [A/G] NM_198075 LRRC56 EXON Missense_R64Q exm1716147 11 541565 [A/G] NM_198075 LRRC56 EXON Missense_R69Q exm871001 11 544770 [A/G] NM_198075 LRRC56 EXON Missense_G106S exm871007 11 549946 [T/C] NM_198075 LRRC56 EXON Missense_A124V exm871017 11 550192 [A/C] NM_198075 LRRC56 EXON Missense_Q182K exm871019 11 550246 [T/C] NM_198075 LRRC56 EXON Nonsense_Q200X exm871024 11 551161 [A/G] NM_198075 LRRC56 EXON Missense_V219M exm871028 11 551204 [T/C] NM_198075 LRRC56 EXON Missense_P233L exm2249982 11 551229 [A/C] NM_198075 LRRC56 EXON Synonymous_A241A exm871036 11 551278 [A/C] NM_198075 LRRC56 EXON Missense_K258Q exm871044 11 551708 [T/C] NM_198075 LRRC56 EXON Missense_T285M exm871047 11 551741 [T/C] NM_198075 LRRC56 EXON Missense_S296F exm871050 11 551753 [A/G] NM_198075 LRRC56 EXON Missense_R300H exm871053 11 551768 [A/C] NM_198075 LRRC56 EXON Missense_P305H exm871056 11 551826 [T/C] NM_198075 LRRC56 EXON Synonymous_H324H exm871066 11 552153 [A/C] NM_198075 LRRC56 EXON Missense_T368P exm871070 11 552228 [A/G] NM_198075 LRRC56 EXON Missense_V393M exm871079 11 552678 [T/A] NM_198075 LRRC56 EXON Missense_S431T exm871081 11 553971 [A/G] NM_198075 LRRC56 EXON Missense_G442R exm871093 11 554047 [A/G] NM_198075 LRRC56 EXON Missense_R467Q exm871110 11 554262 [A/C] NM_198075 LRRC56 EXON Missense_P539T exm871117 11 555075 [C/G] NM_173573 C11orf35 EXON Missense_V604L exm871157 11 556531 [G/C] NM_173573 C11orf35 EXON Missense_C345S exm1717803 11 556883 [A/G] NM_173573 C11orf35 EXON Missense_S310P exm871166 11 556916 [T/C] NM_173573 C11orf35 EXON Missense_I299V exm871173 11 556945 [T/C] NM_173573 C11orf35 EXON Missense_R289Q exm871177 11 556976 [T/C] NM_173573 C11orf35 EXON Missense_G279R exm871181 11 557033 [A/G] NM_173573 C11orf35 EXON Missense_R260W exm871182 11 557036 [C/G] NM_173573 C11orf35 EXON Missense_E259Q exm871188 11 557444 [T/C] NM_173573 C11orf35 EXON Missense_R223Q exm871193 11 557472 [T/C] NM_173573 C11orf35 EXON Missense_D214N exm871196 11 557577 [T/C] NM_173573 C11orf35 EXON Missense_G207R exm871200 11 557607 [T/C] NM_173573 C11orf35 EXON Missense_D197N exm871201 11 557608 [G/C] NM_173573 C11orf35 EXON Missense_S196R exm871202 11 557613 [A/G] NM_173573 C11orf35 EXON Missense_P195S exm871205 11 557633 [A/G] NM_173573 C11orf35 EXON Missense_T188M exm871213 11 557976 [T/C] NM_173573 C11orf35 EXON Missense_E155K exm871220 11 558018 [A/G] NM_173573 C11orf35 EXON Missense_R141W exm871222 11 558165 [T/G] NM_173573 C11orf35 EXON Missense_Q132P exm871223 11 558171 [T/C] NM_173573 C11orf35 EXON Missense_R130Q exm871225 11 558232 [T/C] NM_173573 C11orf35 EXON Missense_E110K exm871228 11 558659 [T/C] NM_173573 C11orf35 EXON Missense_R89Q exm871230 11 558663 [T/C] NM_173573 C11orf35 EXON Missense_A88T exm871231 11 558669 [T/C] NM_173573 C11orf35 EXON Missense_E86K exm871233 11 558690 [A/G] NM_173573 C11orf35 EXON Missense_R79W exm871236 11 558719 [T/C] NM_173573 C11orf35 EXON Missense_R69K exm871243 11 558878 [T/C] NM_173573 C11orf35 EXON Missense_V46M exm871266 11 561787 [A/G] NM_001143993,NM_001143994,NM_003475 RASSF7,RASSF7,RASSF7 EXON Missense_A7T,Missense_A7T,Missense_A7T exm871271 11 561859 [G/C] NM_001143993,NM_001143994,NM_003475 RASSF7,RASSF7,RASSF7 EXON Missense_Q31E,Missense_Q31E,Missense_Q31E exm871300 11 562408 [T/C] NM_001143993,NM_001143994,NM_003475 RASSF7,RASSF7,RASSF7 EXON Missense_C152R,Missense_C152R,Missense_C152R exm871301 11 562421 [A/G] NM_001143993,NM_001143994,NM_003475 RASSF7,RASSF7,RASSF7 EXON Missense_R156Q,Missense_R156Q,Missense_R156Q exm1718588 11 562495 [T/C] NM_001143993,NM_001143994,NM_003475 RASSF7,RASSF7,RASSF7 EXON Missense_R181W,Missense_R181W,Missense_R181W exm871306 11 562571 [A/G] NM_001143993,NM_001143994,NM_003475 RASSF7,RASSF7,RASSF7 EXON Missense_R206Q,Missense_R206Q,Missense_R206Q exm871315 11 562707 [G/C] NM_001143993,NM_001143994,NM_003475 RASSF7,RASSF7,RASSF7 EXON Missense_Q251H,Missense_Q251H,Missense_Q251H exm871317 11 563190 [T/C] NM_001143993,NM_001143994,NM_003475 RASSF7,RASSF7,RASSF7 EXON Missense_A275V,Missense_A275V,Missense_A275V exm871329 11 563289 [A/G] NM_001143993,NM_001143994,NM_003475 RASSF7,RASSF7,RASSF7 EXON Missense_R308Q,Missense_R308Q,Missense_R308Q exm871331 11 563303 [T/C] NM_001143993,NM_001143994,NM_003475 RASSF7,RASSF7,RASSF7 EXON Missense_P313S,Missense_P313S,Missense_P313S exm871339 11 563400 [T/C] NM_001143993,NM_001143994,NM_003475 RASSF7,RASSF7,RASSF7 EXON Silent,Silent,Missense_P319L exm871341 11 563412 [T/C] NM_001143993,NM_001143994,NM_003475 RASSF7,RASSF7,RASSF7 EXON Silent,Silent,Missense_A323V exm2218817 11 563598 [T/C] NM_001143993,NM_001143994,NM_003475 RASSF7,RASSF7,RASSF7 EXON Silent,Silent,Missense_P359S exm871378 11 587343 [A/G] NM_020901 PHRF1 EXON Missense_N100S exm1721239 11 587372 [A/G] NM_020901 PHRF1 EXON Missense_I110V exm871383 11 587433 [A/T] NM_020901 PHRF1 EXON Missense_F130Y exm-rs4963128 11 589564 [T/C] NM_020901 PHRF1 Silent exm871389 11 591436 [A/G] NM_020901 PHRF1 EXON Missense_R158Q exm871392 11 592602 [T/C] NM_020901 PHRF1 EXON Missense_P183L exm871399 11 596996 [C/G] NM_020901 PHRF1 EXON Missense_A232P exm871402 11 597398 [T/C] NM_020901 PHRF1 EXON Missense_A241V exm871411 11 597506 [T/G] NM_020901 PHRF1 EXON Missense_R277L exm871416 11 598386 [A/G] NM_020901 PHRF1 EXON Missense_R303H exm871420 11 598449 [T/C] NM_020901 PHRF1 EXON Missense_V324A exm871424 11 598481 [T/G] NM_020901 PHRF1 EXON Missense_A335S exm871430 11 601610 [T/C] NM_020901 PHRF1 EXON Missense_P354L exm871471 11 607183 [A/G] NM_020901 PHRF1 EXON Missense_N575S exm871503 11 607767 [A/G] NM_020901 PHRF1 EXON Missense_G770R exm871505 11 607819 [A/C] NM_020901 PHRF1 EXON Missense_S787Y exm871514 11 608013 [A/G] NM_020901 PHRF1 EXON Missense_G852S exm871530 11 608248 [A/G] NM_020901 PHRF1 EXON Missense_R930Q exm2250065 11 608297 [A/G] NM_020901 PHRF1 EXON Synonymous_A946A exm871534 11 608299 [T/C] NM_020901 PHRF1 EXON Missense_S947F exm871538 11 608359 [T/C] NM_020901 PHRF1 EXON Missense_P967L exm1723345 11 608499 [A/G] NM_020901 PHRF1 EXON Missense_G1014R exm871558 11 608554 [T/C] NM_020901 PHRF1 EXON Missense_A1032V exm871562 11 608593 [A/G] NM_020901 PHRF1 EXON Missense_R1045Q exm871575 11 608800 [T/C] NM_020901 PHRF1 EXON Missense_A1114V exm871577 11 608812 [A/G] NM_020901 PHRF1 EXON Missense_R1118Q exm871581 11 608871 [T/C] NM_020901 PHRF1 EXON Missense_R1138W exm871583 11 608890 [A/G] NM_020901 PHRF1 EXON Missense_R1144Q exm871588 11 608929 [A/G] NM_020901 PHRF1 EXON Missense_R1157Q exm871608 11 609145 [T/C] NM_020901 PHRF1 EXON Missense_P1229L exm871615 11 609217 [T/C] NM_020901 PHRF1 EXON Missense_P1253L exm871628 11 609358 [A/G] NM_020901 PHRF1 EXON Missense_R1300Q exm871642 11 609553 [T/C] NM_020901 PHRF1 EXON Missense_A1365V exm871644 11 609577 [T/C] NM_020901 PHRF1 EXON Missense_A1373V exm871655 11 610277 [T/C] NM_020901 PHRF1 EXON Missense_V1448A exm871657 11 610300 [A/G] NM_020901 PHRF1 EXON Missense_S1456G exm871664 11 610513 [A/G] NM_020901 PHRF1 EXON Missense_G1476S exm871676 11 610724 [T/C] NM_020901 PHRF1 EXON Missense_A1546V exm871678 11 610753 [A/G] NM_020901 PHRF1 EXON Missense_K1556E exm871711 11 613087 [C/G] NM_004029,NM_001572,NM_004031 IRF7,IRF7,IRF7 EXON Missense_R394P,Missense_R423P,Missense_R436P exm871713 11 613097 [A/G] NM_004029,NM_001572,NM_004031 IRF7,IRF7,IRF7 EXON Missense_R391W,Missense_R420W,Missense_R433W exm871721 11 613208 [T/C] NM_004029,NM_001572,NM_004031 IRF7,IRF7,IRF7 EXON Missense_Q383R,Missense_Q412R,Missense_Q425R exm871741 11 613589 [G/C] NM_004029,NM_001572,NM_004031 IRF7,IRF7,IRF7 EXON Missense_S256T,Missense_S285T,Missense_S298T exm871747 11 613820 [A/G] NM_004029,NM_001572,NM_004031 IRF7,IRF7,IRF7 EXON Missense_L242P,Missense_L271P,Missense_L284P exm871770 11 614318 [T/C] NM_004029,NM_001572,NM_004031 IRF7,IRF7,IRF7 EXON Missense_K179E,Missense_K179E,Missense_K192E exm871779 11 614799 [T/C] NM_004029,NM_001572,NM_004031 IRF7,IRF7,IRF7 EXON Missense_R131Q,Missense_R131Q,Missense_R144Q exm1724751 11 617452 [T/C] NM_031264,NM_001171968,NM_021924 CDHR5,CDHR5,CDHR5 EXON Missense_V619M,Missense_V807M,Missense_V813M exm871842 11 617571 [A/G] NM_031264,NM_001171968,NM_021924 CDHR5,CDHR5,CDHR5 EXON Missense_A579V,Missense_A767V,Missense_A773V exm871844 11 617593 [C/G] NM_031264,NM_001171968,NM_021924 CDHR5,CDHR5,CDHR5 EXON Missense_R572G,Missense_R760G,Missense_R766G exm871856 11 617967 [G/C] NM_031264,NM_001171968,NM_021924 CDHR5,CDHR5,CDHR5 EXON Missense_C508S,Missense_C696S,Missense_C702S exm871871 11 618110 [A/G] NM_031264,NM_001171968,NM_021924 CDHR5,CDHR5,CDHR5 EXON Synonymous_G460G,Synonymous_G648G,Synonymous_G654G exm871874 11 618631 [A/G] NM_031264,NM_001171968,NM_021924 CDHR5,CDHR5,CDHR5 EXON Silent,Missense_P637L,Missense_P643L exm2218974 11 618803 [T/C] NM_031264,NM_001171968,NM_021924 CDHR5,CDHR5,CDHR5 EXON Silent,Missense_M580V,Missense_M586V exm871899 11 618913 [T/C] NM_031264,NM_001171968,NM_021924 CDHR5,CDHR5,CDHR5 EXON Silent,Missense_Q543R,Missense_Q549R exm1724815 11 619015 [G/C] NM_031264,NM_001171968,NM_021924 CDHR5,CDHR5,CDHR5 EXON Silent,Missense_S509W,Missense_S515W exm871918 11 619022 [A/G] NM_031264,NM_001171968,NM_021924 CDHR5,CDHR5,CDHR5 EXON Silent,Missense_P507S,Missense_P513S exm871923 11 619081 [A/G] NM_031264,NM_001171968,NM_021924 CDHR5,CDHR5,CDHR5 EXON Silent,Missense_T487M,Missense_T493M exm871932 11 619390 [T/C] NM_031264,NM_001171968,NM_021924 CDHR5,CDHR5,CDHR5 EXON Missense_V432I,Missense_V432I,Missense_V432I exm871938 11 619562 [T/C] NM_031264,NM_001171968,NM_021924 CDHR5,CDHR5,CDHR5 EXON Missense_R402Q,Missense_R402Q,Missense_R402Q exm871947 11 619761 [T/C] NM_031264,NM_001171968,NM_021924 CDHR5,CDHR5,CDHR5 EXON Missense_A367T,Missense_A367T,Missense_A367T exm871949 11 619767 [A/G] NM_031264,NM_001171968,NM_021924 CDHR5,CDHR5,CDHR5 EXON Missense_R365C,Missense_R365C,Missense_R365C exm871954 11 619789 [T/G] NM_031264,NM_001171968,NM_021924 CDHR5,CDHR5,CDHR5 EXON Missense_R357S,Missense_R357S,Missense_R357S exm871965 11 620120 [A/G] NM_031264,NM_001171968,NM_021924 CDHR5,CDHR5,CDHR5 EXON Missense_L309F,Missense_L309F,Missense_L309F exm871966 11 620128 [A/G] NM_031264,NM_001171968,NM_021924 CDHR5,CDHR5,CDHR5 EXON Missense_S306L,Missense_S306L,Missense_S306L exm871993 11 621346 [T/C] NM_031264,NM_001171968,NM_021924 CDHR5,CDHR5,CDHR5 EXON Missense_R206Q,Missense_R206Q,Missense_R206Q exm871994 11 621359 [A/G] NM_031264,NM_001171968,NM_021924 CDHR5,CDHR5,CDHR5 EXON Missense_W202R,Missense_W202R,Missense_W202R exm871995 11 621366 [A/C] NM_031264,NM_001171968,NM_021924 CDHR5,CDHR5,CDHR5 EXON Missense_M199I,Missense_M199I,Missense_M199I exm1725016 11 621395 [T/G] NM_031264,NM_001171968,NM_021924 CDHR5,CDHR5,CDHR5 EXON Missense_P190T,Missense_P190T,Missense_P190T exm872001 11 621398 [A/G] NM_031264,NM_001171968,NM_021924 CDHR5,CDHR5,CDHR5 EXON Missense_R189W,Missense_R189W,Missense_R189W exm872002 11 621418 [T/C] NM_031264,NM_001171968,NM_021924 CDHR5,CDHR5,CDHR5 EXON Missense_R182H,Missense_R182H,Missense_R182H exm872011 11 621629 [A/G] NM_031264,NM_001171968,NM_021924 CDHR5,CDHR5,CDHR5 EXON Missense_T147M,Missense_T147M,Missense_T147M exm872016 11 621826 [T/G] NM_031264,NM_001171968,NM_021924 CDHR5,CDHR5,CDHR5 EXON Missense_I131L,Missense_I131L,Missense_I131L exm872049 11 624851 [T/C] NM_031264,NM_001171968,NM_021924 CDHR5,CDHR5,CDHR5 EXON Missense_V18I,Missense_V18I,Missense_V18I exm872085 11 637539 [T/G] NM_000797 DRD4 EXON Missense_A79S exm2219075 11 639490 [G/C] NM_000797 DRD4 EXON Missense_D115H exm872109 11 639830 [T/G] NM_000797 DRD4 EXON Missense_V194G exm872145 11 640253 [G/C] NM_000797 DRD4 EXON Missense_A335G exm872162 11 640502 [T/G] NM_000797 DRD4 EXON Missense_W387G exm872166 11 640561 [G/C] NM_000797 DRD4 EXON Missense_E406D exm872169 11 640578 [T/G] NM_000797 DRD4 EXON Missense_R412L exm1727387 11 640589 [T/C] NM_000797 DRD4 EXON Missense_R416C exm872175 11 644568 [G/C] NM_021008 DEAF1 EXON Missense_M560I exm872179 11 644614 [C/G] NM_021008 DEAF1 EXON Missense_A545G exm2274450 11 678742 [T/C] NM_021008 DEAF1 EXON Missense_I403V exm872209 11 678767 [A/G] NM_021008 DEAF1 EXON Synonymous_Y394Y exm2250201 11 678767 [A/G] NM_021008 DEAF1 EXON Synonymous_Y394Y exm872211 11 679706 [T/C] NM_021008 DEAF1 EXON Missense_V370I exm872220 11 680975 [T/C] NM_021008 DEAF1 EXON Missense_A329T exm872240 11 686935 [T/C] NM_021008 DEAF1 EXON Missense_M243V exm872255 11 688376 [T/C] NM_021008 DEAF1 EXON Missense_V158M exm872266 11 694881 [T/G] NM_021008 DEAF1 EXON Missense_A56E exm872289 11 698889 [A/G] NM_001042463,NM_001276274,NM_174940,NM_001276253 TMEM80,TMEM80,TMEM80,TMEM80 Silent,Silent,Silent,Silent exm872292 11 700181 [A/G] NM_001042463,NM_001276274,NM_174940,NM_001276253 TMEM80,TMEM80,TMEM80,TMEM80 EXON Missense_G100R,Missense_G100R,Missense_G92R,Missense_G100R exm872295 11 700193 [A/G] NM_001042463,NM_001276274,NM_174940,NM_001276253 TMEM80,TMEM80,TMEM80,TMEM80 EXON Missense_A104T,Missense_A104T,Missense_A96T,Missense_A104T exm872297 11 700227 [T/C] NM_001042463,NM_001276274,NM_174940,NM_001276253 TMEM80,TMEM80,TMEM80,TMEM80 EXON Missense_T115M,Missense_T115M,Missense_T107M,Silent exm872302 11 700653 [A/G] NM_001042463,NM_001276274,NM_174940,NM_001276253 TMEM80,TMEM80,TMEM80,TMEM80 EXON Missense_D131N,Missense_D131N,Missense_D123N,Silent exm872304 11 702962 [A/C] NM_001042463,NM_001276274,NM_174940,NM_001276253 TMEM80,TMEM80,TMEM80,TMEM80 EXON Missense_T155P,Missense_T155P,Missense_T147P,Silent exm872330 11 709567 [A/G] NM_022772 EPS8L2 EXON Missense_R20Q exm872332 11 709588 [T/C] NM_022772 EPS8L2 EXON Missense_M27T exm872339 11 710484 [A/C] NM_022772 EPS8L2 EXON Missense_Q55K exm872358 11 720867 [T/C] NM_022772 EPS8L2 EXON Missense_A172V exm1735264 11 721649 [T/C] NM_022772 EPS8L2 EXON Nonsense_Q285X exm872393 11 721968 [A/G] NM_022772 EPS8L2 EXON Missense_I321V exm872406 11 722405 [T/G] NM_022772 EPS8L2 EXON Missense_V355G exm872425 11 723311 [T/C] NM_022772 EPS8L2 EXON Missense_P471L exm872462 11 726965 [T/G] NM_022772 EPS8L2 EXON Missense_R711M exm872465 11 726978 [G/C] NM_022772 EPS8L2 EXON Missense_S715R exm872468 11 747536 [A/C] NM_006755 TALDO1 EXON Missense_K19Q exm872472 11 747577 [T/C] NM_006755 TALDO1 EXON Synonymous_H32H exm872497 11 763351 [A/G] NM_006755 TALDO1 EXON Missense_E157K exm872498 11 763357 [G/C] NM_006755 TALDO1 EXON Missense_Q159E exm872499 11 763358 [A/G] NM_006755 TALDO1 EXON Missense_Q159R exm872502 11 763388 [T/C] NM_006755 TALDO1 EXON Missense_L169P exm872510 11 763486 [A/G] NM_006755 TALDO1 EXON Missense_D202N exm872541 11 764414 [A/G] NM_006755 TALDO1 EXON Missense_K321R exm872542 11 764422 [T/C] NM_006755 TALDO1 EXON Missense_R324W exm872583 11 772492 [T/C] NM_182612 PDDC1 EXON Missense_A129T exm2267143 11 772701 [A/G] NM_182612 PDDC1 Silent exm872606 11 774091 [T/C] NM_182612 PDDC1 EXON Missense_D55G exm2250309 11 775108 [T/C] NM_182612 PDDC1 EXON Synonymous_T33T exm872612 11 775109 [A/G] NM_182612 PDDC1 EXON Missense_T33M exm872617 11 788137 [T/C] NM_016564 CEND1 EXON Missense_R147Q exm872625 11 788329 [A/G] NM_016564 CEND1 EXON Missense_T83M exm872630 11 788386 [G/C] NM_016564 CEND1 EXON Missense_S64W exm1739239 11 792726 [A/G] NM_024698,NM_001191061,NM_001191060 SLC25A22,SLC25A22,SLC25A22 EXON Synonymous_A138A,Synonymous_A138A,Synonymous_A138A exm872688 11 794491 [T/C] NM_024698,NM_001191061,NM_001191060 SLC25A22,SLC25A22,SLC25A22 EXON Missense_V57I,Missense_V57I,Missense_V57I exm872689 11 794509 [T/C] NM_024698,NM_001191061,NM_001191060 SLC25A22,SLC25A22,SLC25A22 EXON Missense_D51N,Missense_D51N,Missense_D51N exm872692 11 794782 [A/G] NM_024698,NM_001191061,NM_001191060 SLC25A22,SLC25A22,SLC25A22 EXON Missense_T47M,Missense_T47M,Missense_T47M exm872740 11 800186 [T/C] NM_145887,NM_145886 PIDD,PIDD EXON Missense_R723Q,Missense_R740Q exm872744 11 800213 [T/C] NM_145887,NM_145886 PIDD,PIDD EXON Missense_R714Q,Missense_R731Q exm872745 11 800220 [A/G] NM_145887,NM_145886 PIDD,PIDD EXON Missense_P712S,Missense_P729S exm872748 11 800231 [T/C] NM_145887,NM_145886 PIDD,PIDD EXON Missense_R708H,Missense_R725H exm872755 11 800449 [A/G] NM_145887,NM_145886 PIDD,PIDD EXON Missense_R682C,Missense_R682C exm872756 11 800450 [A/G] NM_145887,NM_145886 PIDD,PIDD EXON Synonymous_D681D,Synonymous_D681D exm872766 11 800563 [T/C] NM_145887,NM_145886 PIDD,PIDD EXON Missense_R674H,Missense_R674H exm872774 11 800610 [T/G] NM_145887,NM_145886 PIDD,PIDD EXON Missense_D658E,Missense_D658E exm872794 11 801100 [A/G] NM_145887,NM_145886 PIDD,PIDD EXON Missense_R551C,Missense_R551C exm872808 11 801483 [C/G] NM_145887,NM_145886 PIDD,PIDD EXON Missense_P482A,Missense_P482A exm872809 11 801492 [T/C] NM_145887,NM_145886 PIDD,PIDD EXON Missense_I479V,Missense_I479V exm872839 11 802257 [A/G] NM_145887,NM_145886 PIDD,PIDD EXON Missense_P372S,Missense_P372S exm872848 11 802379 [T/C] NM_145887,NM_145886 PIDD,PIDD EXON Missense_Q331R,Missense_Q331R exm872862 11 802796 [T/C] NM_145887,NM_145886 PIDD,PIDD EXON Missense_D269N,Missense_D269N exm2219530 11 802868 [T/G] NM_145887,NM_145886 PIDD,PIDD EXON Missense_L245I,Missense_L245I exm872888 11 803401 [A/G] NM_145887,NM_145886 PIDD,PIDD EXON Missense_S161F,Missense_S161F exm872890 11 803410 [T/G] NM_145887,NM_145886 PIDD,PIDD EXON Missense_N158T,Missense_N158T exm872892 11 803447 [T/G] NM_145887,NM_145886 PIDD,PIDD EXON Missense_Q146K,Missense_Q146K exm872893 11 803468 [A/T] NM_145887,NM_145886 PIDD,PIDD EXON Missense_T139S,Missense_T139S exm872895 11 803528 [A/C] NM_145887,NM_145886 PIDD,PIDD EXON Missense_A119S,Missense_A119S exm872900 11 803575 [T/C] NM_145887,NM_145886 PIDD,PIDD EXON Missense_R103Q,Missense_R103Q exm872906 11 804187 [A/G] NM_145887,NM_145886 PIDD,PIDD EXON Missense_R68C,Missense_R68C exm872918 11 804366 [A/G] NM_145887,NM_145886 PIDD,PIDD EXON Missense_P8L,Missense_P8L exm872925 11 810305 [A/G] NM_001004 RPLP2 EXON Missense_K24R exm1739998 11 810318 [C/G] NM_001004 RPLP2 EXON Missense_D28E exm872956 11 821676 [A/G] NM_020376 PNPLA2 EXON Missense_R79Q exm872965 11 821766 [A/G] NM_020376 PNPLA2 EXON Missense_H109R exm872966 11 821778 [A/G] NM_020376 PNPLA2 EXON Missense_R113H exm872994 11 822565 [T/C] NM_020376 PNPLA2 EXON Missense_L219F exm873001 11 823586 [C/G] NM_020376 PNPLA2 EXON Missense_N252K exm873006 11 823729 [T/C] NM_020376 PNPLA2 EXON Missense_P265S exm1740220 11 823742 [T/C] NM_020376 PNPLA2 EXON Missense_P269L exm1740223 11 823799 [C/G] NM_020376 PNPLA2 EXON Missense_S288W exm873012 11 823854 [A/G] NM_020376 PNPLA2 EXON Synonymous_E306E exm873015 11 824021 [T/C] NM_020376 PNPLA2 EXON Missense_P315S exm873016 11 824042 [T/C] NM_020376 PNPLA2 EXON Missense_L322F exm2250346 11 824428 [T/G] NM_020376 PNPLA2 EXON Synonymous_L389L exm873029 11 824584 [A/G] NM_020376 PNPLA2 EXON Missense_A413T exm873030 11 824624 [A/G] NM_020376 PNPLA2 EXON Missense_N426S exm873032 11 824674 [G/C] NM_020376 PNPLA2 EXON Missense_L443V exm873034 11 824711 [A/C] NM_020376 PNPLA2 EXON Missense_P455Q exm873059 11 828764 [A/G] NM_173584 EFCAB4A EXON Missense_D53N exm873064 11 828864 [A/G] NM_173584 EFCAB4A EXON Missense_D60N exm873065 11 828886 [A/T] NM_173584 EFCAB4A EXON Missense_Q67L exm873068 11 828916 [A/G] NM_173584 EFCAB4A EXON Missense_R77Q exm873076 11 829476 [A/G] NM_173584 EFCAB4A EXON Missense_E132K exm873086 11 830044 [A/G] NM_173584 EFCAB4A EXON Missense_G173S exm873096 11 830670 [T/G] NM_173584 EFCAB4A EXON Missense_S248I exm873102 11 831544 [A/T] NM_173584 EFCAB4A EXON Missense_Y290N exm2250355 11 831549 [C/G] NM_173584 EFCAB4A EXON Synonymous_T291T exm873127 11 836406 [T/C] NM_001039490,NM_004357,NM_139030,NM_139029 CD151,CD151,CD151,CD151 EXON Synonymous_C80C,Synonymous_C80C,Synonymous_C80C,Synonymous_C80C exm2250361 11 836406 [T/C] NM_001039490,NM_004357,NM_139030,NM_139029 CD151,CD151,CD151,CD151 EXON Synonymous_C80C,Synonymous_C80C,Synonymous_C80C,Synonymous_C80C exm873128 11 836407 [A/G] NM_001039490,NM_004357,NM_139030,NM_139029 CD151,CD151,CD151,CD151 EXON Missense_A81T,Missense_A81T,Missense_A81T,Missense_A81T exm873130 11 836418 [T/G] NM_001039490,NM_004357,NM_139030,NM_139029 CD151,CD151,CD151,CD151 EXON Missense_K84N,Missense_K84N,Missense_K84N,Missense_K84N exm873138 11 836820 [G/C] NM_001039490,NM_004357,NM_139030,NM_139029 CD151,CD151,CD151,CD151 EXON Missense_L110V,Missense_L110V,Missense_L110V,Missense_L110V exm873141 11 837257 [T/C] NM_001039490,NM_004357,NM_139030,NM_139029 CD151,CD151,CD151,CD151 EXON Missense_T120M,Missense_T120M,Missense_T120M,Missense_T120M exm873189 11 850319 [T/C] NM_003271,NM_001025239,NM_001025238,NM_001025236,NM_001025235,NM_001025234,NM_001025237 TSPAN4,TSPAN4,TSPAN4,TSPAN4,TSPAN4,TSPAN4,TSPAN4 EXON Synonymous_C5C,Silent,Synonymous_C5C,Synonymous_C5C,Synonymous_C5C,Synonymous_C5C,Synonymous_C5C exm2250369 11 850319 [T/C] NM_003271,NM_001025239,NM_001025238,NM_001025236,NM_001025235,NM_001025234,NM_001025237 TSPAN4,TSPAN4,TSPAN4,TSPAN4,TSPAN4,TSPAN4,TSPAN4 EXON Synonymous_C5C,Silent,Synonymous_C5C,Synonymous_C5C,Synonymous_C5C,Synonymous_C5C,Synonymous_C5C exm873202 11 862667 [A/G] NM_003271,NM_001025239,NM_001025238,NM_001025236,NM_001025235,NM_001025234,NM_001025237 TSPAN4,TSPAN4,TSPAN4,TSPAN4,TSPAN4,TSPAN4,TSPAN4 EXON Missense_G61S,Silent,Missense_G61S,Missense_G61S,Missense_G61S,Missense_G61S,Missense_G61S exm873209 11 864473 [A/G] NM_003271,NM_001025239,NM_001025238,NM_001025236,NM_001025235,NM_001025234,NM_001025237 TSPAN4,TSPAN4,TSPAN4,TSPAN4,TSPAN4,TSPAN4,TSPAN4 EXON Missense_A98T,Missense_A34T,Missense_A98T,Missense_A98T,Missense_A98T,Missense_A98T,Missense_A98T exm1742225 11 864511 [A/G] NM_003271,NM_001025239,NM_001025238,NM_001025236,NM_001025235,NM_001025234,NM_001025237 TSPAN4,TSPAN4,TSPAN4,TSPAN4,TSPAN4,TSPAN4,TSPAN4 EXON Synonymous_K110K,Synonymous_K46K,Synonymous_K110K,Synonymous_K110K,Synonymous_K110K,Synonymous_K110K,Synonymous_K110K exm2250382 11 865549 [T/C] NM_003271,NM_001025239,NM_001025238,NM_001025236,NM_001025235,NM_001025234,NM_001025237 TSPAN4,TSPAN4,TSPAN4,TSPAN4,TSPAN4,TSPAN4,TSPAN4 EXON Synonymous_L123L,Synonymous_L59L,Synonymous_L123L,Synonymous_L123L,Synonymous_L123L,Synonymous_L123L,Synonymous_L123L exm873221 11 865561 [A/G] NM_003271,NM_001025239,NM_001025238,NM_001025236,NM_001025235,NM_001025234,NM_001025237 TSPAN4,TSPAN4,TSPAN4,TSPAN4,TSPAN4,TSPAN4,TSPAN4 EXON Missense_G127S,Missense_G63S,Missense_G127S,Missense_G127S,Missense_G127S,Missense_G127S,Missense_G127S exm1742239 11 865614 [T/C] NM_003271,NM_001025239,NM_001025238,NM_001025236,NM_001025235,NM_001025234,NM_001025237 TSPAN4,TSPAN4,TSPAN4,TSPAN4,TSPAN4,TSPAN4,TSPAN4 EXON Synonymous_D144D,Synonymous_D80D,Synonymous_D144D,Synonymous_D144D,Synonymous_D144D,Synonymous_D144D,Synonymous_D144D exm873230 11 865731 [T/C] NM_003271,NM_001025239,NM_001025238,NM_001025236,NM_001025235,NM_001025234,NM_001025237 TSPAN4,TSPAN4,TSPAN4,TSPAN4,TSPAN4,TSPAN4,TSPAN4 EXON Missense_F157S,Missense_F93S,Missense_F157S,Missense_F157S,Missense_F157S,Missense_F157S,Missense_F157S exm873251 11 866604 [A/G] NM_003271,NM_001025239,NM_001025238,NM_001025236,NM_001025235,NM_001025234,NM_001025237 TSPAN4,TSPAN4,TSPAN4,TSPAN4,TSPAN4,TSPAN4,TSPAN4 EXON Missense_V231I,Missense_V167I,Missense_V231I,Missense_V231I,Missense_V231I,Missense_V231I,Missense_V231I exm873252 11 866625 [A/G] NM_003271,NM_001025239,NM_001025238,NM_001025236,NM_001025235,NM_001025234,NM_001025237 TSPAN4,TSPAN4,TSPAN4,TSPAN4,TSPAN4,TSPAN4,TSPAN4 EXON Missense_A238T,Missense_A174T,Missense_A238T,Missense_A238T,Missense_A238T,Missense_A238T,Missense_A238T exm873272 11 870141 [T/C] NM_001142674,NM_001142677,NM_001142676,NM_023947,NM_001142675 CHID1,CHID1,CHID1,CHID1,CHID1 EXON Missense_V355I,Missense_V324I,Missense_V380I,Missense_V355I,Missense_V355I exm873273 11 870145 [A/G] NM_001142674,NM_001142677,NM_001142676,NM_023947,NM_001142675 CHID1,CHID1,CHID1,CHID1,CHID1 EXON Synonymous_H353H,Synonymous_H322H,Synonymous_H378H,Synonymous_H353H,Synonymous_H353H exm873275 11 870158 [T/C] NM_001142674,NM_001142677,NM_001142676,NM_023947,NM_001142675 CHID1,CHID1,CHID1,CHID1,CHID1 EXON Missense_R349H,Missense_R318H,Missense_R374H,Missense_R349H,Missense_R349H exm873278 11 870446 [A/G] NM_001142674,NM_001142677,NM_001142676,NM_023947,NM_001142675 CHID1,CHID1,CHID1,CHID1,CHID1 EXON Missense_A338V,Missense_A307V,Missense_A363V,Missense_A338V,Missense_A338V exm873280 11 870467 [T/C] NM_001142674,NM_001142677,NM_001142676,NM_023947,NM_001142675 CHID1,CHID1,CHID1,CHID1,CHID1 EXON Missense_R331Q,Missense_R300Q,Missense_R356Q,Missense_R331Q,Missense_R331Q exm873281 11 870468 [A/G] NM_001142674,NM_001142677,NM_001142676,NM_023947,NM_001142675 CHID1,CHID1,CHID1,CHID1,CHID1 EXON Missense_R331W,Missense_R300W,Missense_R356W,Missense_R331W,Missense_R331W exm873322 11 900078 [T/C] NM_001142674,NM_001142677,NM_001142676,NM_023947,NM_001142675 CHID1,CHID1,CHID1,CHID1,CHID1 EXON Missense_D158N,Missense_D158N,Missense_D183N,Missense_D158N,Missense_D158N exm873336 11 903039 [A/G] NM_001142674,NM_001142677,NM_001142676,NM_023947,NM_001142675 CHID1,CHID1,CHID1,CHID1,CHID1 EXON Missense_L62F,Missense_L62F,Missense_L87F,Missense_L62F,Missense_L62F exm1742950 11 903077 [A/C] NM_001142674,NM_001142677,NM_001142676,NM_023947,NM_001142675 CHID1,CHID1,CHID1,CHID1,CHID1 EXON Missense_G49V,Missense_G49V,Missense_G74V,Missense_G49V,Missense_G49V exm873342 11 904723 [T/C] NM_001142674,NM_001142677,NM_001142676,NM_023947,NM_001142675 CHID1,CHID1,CHID1,CHID1,CHID1 EXON Missense_K32E,Missense_K32E,Missense_K32E,Missense_K32E,Missense_K32E exm873344 11 904771 [A/G] NM_001142674,NM_001142677,NM_001142676,NM_023947,NM_001142675 CHID1,CHID1,CHID1,CHID1,CHID1 EXON Missense_P16S,Missense_P16S,Missense_P16S,Missense_P16S,Missense_P16S exm1742967 11 904812 [T/C] NM_001142674,NM_001142677,NM_001142676,NM_023947,NM_001142675 CHID1,CHID1,CHID1,CHID1,CHID1 EXON Missense_R2Q,Missense_R2Q,Missense_R2Q,Missense_R2Q,Missense_R2Q exm873351 11 959457 [A/G] NM_001242837,NM_012305 AP2A2,AP2A2 EXON Missense_I30V,Missense_I30V exm873352 11 970299 [A/G] NM_001242837,NM_012305 AP2A2,AP2A2 EXON Synonymous_T89T,Synonymous_T89T exm873376 11 985508 [A/G] NM_001242837,NM_012305 AP2A2,AP2A2 EXON Synonymous_S297S,Synonymous_S296S exm873378 11 985547 [T/C] NM_001242837,NM_012305 AP2A2,AP2A2 EXON Synonymous_L310L,Synonymous_L309L exm873390 11 988619 [A/G] NM_001242837,NM_012305 AP2A2,AP2A2 EXON Missense_N401S,Missense_N400S exm873419 11 993907 [G/C] NM_001242837,NM_012305 AP2A2,AP2A2 EXON Synonymous_L569L,Synonymous_L568L exm873440 11 1000448 [T/C] NM_001242837,NM_012305 AP2A2,AP2A2 EXON Missense_S659L,Missense_S658L exm873448 11 1006604 [T/C] NM_001242837,NM_012305 AP2A2,AP2A2 EXON Synonymous_D762D,Synonymous_D761D exm873458 11 1009101 [T/G] NM_001242837,NM_012305 AP2A2,AP2A2 EXON Missense_Y809D,Missense_Y808D exm873463 11 1009207 [T/A] NM_001242837,NM_012305 AP2A2,AP2A2 EXON Missense_Q844L,Missense_Q843L exm873501 11 1013929 [T/C] NM_005961 MUC6 EXON Missense_R2371H exm873507 11 1013992 [T/C] NM_005961 MUC6 EXON Missense_S2350N exm873511 11 1015786 [T/C] NM_005961 MUC6 EXON Missense_G2339R exm873513 11 1015828 [T/C] NM_005961 MUC6 EXON Missense_A2325T exm873521 11 1015915 [A/G] NM_005961 MUC6 EXON Missense_P2296S exm873533 11 1016238 [A/G] NM_005961 MUC6 EXON Missense_T2188M exm873534 11 1016253 [A/G] NM_005961 MUC6 EXON Missense_L2183S exm873535 11 1016263 [A/G] NM_005961 MUC6 EXON Missense_H2180Y exm873543 11 1016386 [A/C] NM_005961 MUC6 EXON Missense_S2139A exm873544 11 1016430 [C/G] NM_005961 MUC6 EXON Missense_T2124S exm873547 11 1016481 [A/G] NM_005961 MUC6 EXON Missense_I2107T exm873552 11 1016574 [T/C] NM_005961 MUC6 EXON Missense_S2076N exm873557 11 1016583 [T/G] NM_005961 MUC6 EXON Missense_Q2073P exm873564 11 1016611 [T/C] NM_005961 MUC6 EXON Missense_M2064V exm873566 11 1016614 [T/G] NM_005961 MUC6 EXON Missense_P2063T exm873571 11 1016640 [A/G] NM_005961 MUC6 EXON Missense_A2054V exm873576 11 1016662 [A/G] NM_005961 MUC6 EXON Missense_P2047S exm873591 11 1016724 [A/G] NM_005961 MUC6 EXON Missense_I2026T exm873620 11 1016842 [T/G] NM_005961 MUC6 EXON Missense_T1987P exm873621 11 1016845 [G/C] NM_005961 MUC6 EXON Missense_A1986P exm2217795 11 1016880 [T/C] NM_005961 MUC6 EXON Missense_G1974E exm2217796 11 1016887 [A/G] NM_005961 MUC6 EXON Missense_P1972S exm873676 11 1017085 [A/G] NM_005961 MUC6 EXON Missense_P1906S exm873683 11 1017120 [A/G] NM_005961 MUC6 EXON Missense_P1894L exm873702 11 1017280 [T/G] NM_005961 MUC6 EXON Missense_P1841T exm2217806 11 1017526 [G/C] NM_005961 MUC6 EXON Missense_P1759A exm2276977 11 1017623 [G/C] NM_005961 MUC6 EXON Missense_M1726I exm873775 11 1017648 [T/G] NM_005961 MUC6 EXON Missense_P1718H exm873790 11 1017744 [T/C] NM_005961 MUC6 EXON Missense_N1686S exm873800 11 1017772 [T/C] NM_005961 MUC6 EXON Missense_G1677R exm873804 11 1017789 [A/C] NM_005961 MUC6 EXON Missense_M1671R exm873810 11 1017824 [C/G] NM_005961 MUC6 EXON Synonymous_L1659L exm2249516 11 1017824 [C/G] NM_005961 MUC6 EXON Synonymous_L1659L exm873814 11 1017843 [A/G] NM_005961 MUC6 EXON Missense_I1653T exm873815 11 1017844 [T/C] NM_005961 MUC6 EXON Missense_I1653V exm873824 11 1017892 [G/C] NM_005961 MUC6 EXON Missense_A1637P exm873828 11 1017901 [T/G] NM_005961 MUC6 EXON Missense_P1634T exm873837 11 1017939 [G/C] NM_005961 MUC6 EXON Missense_T1621S exm2217812 11 1017997 [A/G] NM_005961 MUC6 EXON Missense_Y1602H exm873855 11 1018015 [A/T] NM_005961 MUC6 EXON Missense_F1596I exm873860 11 1018035 [C/G] NM_005961 MUC6 EXON Missense_G1589A exm873874 11 1018138 [T/C] NM_005961 MUC6 EXON Missense_R1555G exm873875 11 1018140 [G/C] NM_005961 MUC6 EXON Missense_T1554S exm873876 11 1018144 [G/C] NM_005961 MUC6 EXON Missense_R1553G exm873877 11 1018146 [A/G] NM_005961 MUC6 EXON Missense_T1552I exm873881 11 1018156 [A/G] NM_005961 MUC6 EXON Missense_P1549S exm2274451 11 1018157 [A/G] NM_005961 MUC6 EXON Synonymous_N1548N exm873895 11 1018237 [A/G] NM_005961 MUC6 EXON Missense_P1522S exm873896 11 1018245 [T/G] NM_005961 MUC6 EXON Missense_N1519T exm873898 11 1018251 [T/C] NM_005961 MUC6 EXON Missense_S1517N exm873901 11 1018262 [C/G] NM_005961 MUC6 EXON Missense_H1513Q exm2276978 11 1018263 [A/T] NM_005961 MUC6 EXON Missense_H1513L exm873902 11 1018266 [A/G] NM_005961 MUC6 EXON Missense_A1512V exm873903 11 1018267 [A/C] NM_005961 MUC6 EXON Missense_A1512S exm873913 11 1018299 [A/G] NM_005961 MUC6 EXON Missense_P1501L exm2217814 11 1018303 [A/G] NM_005961 MUC6 EXON Missense_P1500S exm873914 11 1018308 [A/G] NM_005961 MUC6 EXON Missense_T1498I exm873917 11 1018329 [T/A] NM_005961 MUC6 EXON Missense_K1491M exm873920 11 1018348 [A/G] NM_005961 MUC6 EXON Missense_P1485S exm2217820 11 1018481 [G/C] NM_005961 MUC6 EXON Missense_E1440D exm873961 11 1018623 [G/C] NM_005961 MUC6 EXON Missense_T1393R exm873963 11 1018657 [T/A] NM_005961 MUC6 EXON Missense_R1382W exm873966 11 1018711 [T/G] NM_005961 MUC6 EXON Missense_P1364T exm873975 11 1019308 [T/G] NM_005961 MUC6 EXON Missense_T1333P exm873984 11 1019413 [T/C] NM_005961 MUC6 EXON Missense_K1298E exm874008 11 1020722 [A/G] NM_005961 MUC6 EXON Missense_T1201M exm874011 11 1021245 [T/C] NM_005961 MUC6 EXON Missense_D1187N exm874012 11 1021268 [T/C] NM_005961 MUC6 EXON Missense_N1179S exm874014 11 1023530 [T/C] NM_005961 MUC6 EXON Missense_V1169I exm874017 11 1023605 [T/C] NM_005961 MUC6 EXON Missense_E1144K exm874019 11 1023622 [A/G] NM_005961 MUC6 EXON Missense_T1138M exm874039 11 1024858 [T/G] NM_005961 MUC6 EXON Missense_T1071P exm1692231 11 1024893 [T/C] NM_005961 MUC6 EXON Missense_R1059H exm874042 11 1024909 [A/G] NM_005961 MUC6 EXON Missense_R1054C exm874063 11 1025348 [T/G] NM_005961 MUC6 EXON Missense_A940E exm874064 11 1025358 [T/C] NM_005961 MUC6 EXON Missense_V937M exm874070 11 1025843 [T/C] NM_005961 MUC6 EXON Missense_G921R exm874071 11 1025861 [T/C] NM_005961 MUC6 EXON Missense_V915I exm874076 11 1025900 [T/C] NM_005961 MUC6 EXON Missense_N902D exm874077 11 1026001 [A/G] NM_005961 MUC6 EXON Missense_T896M exm874087 11 1026400 [T/C] NM_005961 MUC6 EXON Missense_E825K exm874089 11 1026418 [T/C] NM_005961 MUC6 EXON Missense_G819R exm874092 11 1026430 [T/C] NM_005961 MUC6 EXON Missense_E815K exm874102 11 1027176 [T/C] NM_005961 MUC6 EXON Missense_R750Q exm874103 11 1027177 [A/G] NM_005961 MUC6 EXON Missense_R750W exm874111 11 1027390 [T/G] NM_005961 MUC6 EXON Nonsense_C703X exm874114 11 1027436 [A/G] NM_005961 MUC6 EXON Missense_A688V exm874121 11 1027724 [T/C] NM_005961 MUC6 EXON Missense_V648I exm874140 11 1028379 [T/C] NM_005961 MUC6 EXON Missense_G534S exm874142 11 1028665 [C/G] NM_005961 MUC6 EXON Missense_Q524H exm874154 11 1029114 [C/G] NM_005961 MUC6 EXON Missense_V438L exm874157 11 1029135 [T/C] NM_005961 MUC6 EXON Missense_E431K exm874162 11 1029275 [T/C] NM_005961 MUC6 EXON Missense_A410T exm874164 11 1029320 [T/C] NM_005961 MUC6 EXON Missense_G395R exm874172 11 1029541 [T/C] NM_005961 MUC6 EXON Missense_A364T exm874182 11 1030228 [A/C] NM_005961 MUC6 EXON Missense_C334G exm874193 11 1030600 [G/C] NM_005961 MUC6 EXON Missense_R289G exm874205 11 1031202 [T/C] NM_005961 MUC6 EXON Missense_G181R exm874207 11 1031238 [T/C] NM_005961 MUC6 EXON Missense_M169V exm1692753 11 1031856 [T/C] NM_005961 MUC6 EXON Missense_V105I exm874220 11 1031874 [T/C] NM_005961 MUC6 EXON Missense_V99M exm874222 11 1031895 [T/C] NM_005961 MUC6 EXON Missense_G92R exm874223 11 1031909 [T/C] NM_005961 MUC6 EXON Missense_R87Q exm874229 11 1031978 [A/G] NM_005961 MUC6 EXON Missense_S64L exm2249524 11 1032049 [T/C] NM_005961 MUC6 EXON Synonymous_P40P exm874238 11 1033055 [T/C] NM_005961 MUC6 EXON Missense_T25A exm874246 11 1074927 [T/C] NM_002457 MUC2 EXON Missense_A9V exm874257 11 1075722 [C/G] NM_002457 MUC2 EXON Missense_G50R exm874258 11 1075740 [T/C] NM_002457 MUC2 EXON Missense_P56S exm874259 11 1075747 [T/C] NM_002457 MUC2 EXON Missense_L58P exm874262 11 1075812 [T/C] NM_002457 MUC2 EXON Missense_R80W exm874263 11 1075813 [A/G] NM_002457 MUC2 EXON Missense_R80Q exm874271 11 1075920 [A/G] NM_002457 MUC2 EXON Missense_V116M exm874285 11 1078268 [T/C] NM_002457 MUC2 EXON Synonymous_G185G exm874287 11 1078320 [A/G] NM_002457 MUC2 EXON Missense_D203N exm874297 11 1078456 [T/C] NM_002457 MUC2 EXON Missense_R222C exm874304 11 1078496 [T/C] NM_002457 MUC2 EXON Missense_A235V exm874313 11 1078565 [T/C] NM_002457 MUC2 EXON Missense_P258L exm874329 11 1079696 [A/G] NM_002457 MUC2 EXON Missense_G305S exm874333 11 1079757 [A/G] NM_002457 MUC2 EXON Missense_R325H exm1693636 11 1080289 [T/C] NM_002457 MUC2 EXON Missense_Y337H exm874340 11 1080301 [A/G] NM_002457 MUC2 EXON Missense_G341R exm874341 11 1080365 [T/C] NM_002457 MUC2 EXON Missense_P362L exm874343 11 1080383 [A/G] NM_002457 MUC2 EXON Missense_N368S exm874344 11 1080391 [A/G] NM_002457 MUC2 EXON Missense_E371K exm874359 11 1080917 [G/C] NM_002457 MUC2 EXON Missense_P434R exm874364 11 1080953 [T/C] NM_002457 MUC2 EXON Missense_T446M exm874369 11 1081112 [G/C] NM_002457 MUC2 EXON Missense_E470Q exm874370 11 1081141 [T/C] NM_002457 MUC2 EXON Synonymous_T479T exm874377 11 1081480 [A/G] NM_002457 MUC2 EXON Missense_V500I exm874378 11 1081483 [T/C] NM_002457 MUC2 EXON Missense_R501W exm874382 11 1081669 [A/G] NM_002457 MUC2 EXON Missense_G533S exm2249548 11 1081672 [T/C] NM_002457 MUC2 EXON Synonymous_L534L exm874391 11 1082319 [A/C] NM_002457 MUC2 EXON Missense_K592Q exm874404 11 1082681 [A/G] NM_002457 MUC2 EXON Missense_V644I exm874412 11 1083237 [A/G] NM_002457 MUC2 EXON Missense_V713I exm874421 11 1083557 [T/C] NM_002457 MUC2 EXON Missense_R743W exm2217922 11 1083833 [A/G] NM_002457 MUC2 EXON Missense_A789T exm874434 11 1084278 [A/G] NM_002457 MUC2 EXON Missense_D804N exm2249549 11 1084299 [A/C] NM_002457 MUC2 EXON Synonymous_R811R exm874443 11 1084362 [A/G] NM_002457 MUC2 EXON Missense_G832S exm874446 11 1084378 [T/C] NM_002457 MUC2 EXON Missense_V837A exm874448 11 1084753 [A/G] NM_002457 MUC2 EXON Missense_V850M exm874452 11 1084801 [A/G] NM_002457 MUC2 EXON Missense_G866S exm874461 11 1085936 [A/G] NM_002457 MUC2 EXON Missense_R926G exm874464 11 1085982 [A/G] NM_002457 MUC2 EXON Missense_R941H exm874470 11 1086051 [T/C] NM_002457 MUC2 EXON Missense_T964M exm874475 11 1086290 [A/G] NM_002457 MUC2 EXON Missense_N1000S exm874479 11 1086322 [G/C] NM_002457 MUC2 EXON Missense_V1011L exm874485 11 1086422 [A/G] NM_002457 MUC2 EXON Missense_R1044H exm874492 11 1087574 [A/G] NM_002457 MUC2 EXON Missense_V1109M exm874499 11 1087961 [A/G] NM_002457 MUC2 EXON Missense_R1146G exm874510 11 1088835 [T/C] NM_002457 MUC2 EXON Missense_T1207I exm874520 11 1090848 [T/C] NM_002457 MUC2 EXON Missense_T1248M exm874522 11 1090881 [T/C] NM_002457 MUC2 EXON Missense_T1259M exm874538 11 1092217 [T/C] NM_002457 MUC2 EXON Missense_L1346F exm874542 11 1092388 [A/C] NM_002457 MUC2 EXON Missense_T1403P exm874775 11 1093520 [T/C] NM_002457 MUC2 EXON Missense_P1780L exm874777 11 1093523 [T/C] NM_002457 MUC2 EXON Missense_T1781I exm874779 11 1093531 [A/G] NM_002457 MUC2 EXON Missense_S1784G exm874782 11 1093549 [G/C] NM_002457 MUC2 EXON Missense_V1790L exm2249555 11 1093581 [T/C] NM_002457 MUC2 EXON Synonymous_T1800T exm874815 11 1093685 [G/C] NM_002457 MUC2 EXON Missense_P1831R exm874818 11 1093697 [G/C] NM_002457 MUC2 EXON Missense_T1835R exm874820 11 1093709 [T/C] NM_002457 MUC2 EXON Missense_P1839L exm874825 11 1093844 [T/C] NM_002457 MUC2 EXON Missense_T1884M exm874827 11 1093865 [T/C] NM_002457 MUC2 EXON Missense_T1891M exm1694192 11 1093885 [A/G] NM_002457 MUC2 EXON Missense_G1898R exm874830 11 1093898 [T/C] NM_002457 MUC2 EXON Missense_L1902P exm874832 11 1093907 [T/C] NM_002457 MUC2 EXON Missense_P1905L exm874834 11 1093921 [A/T] NM_002457 MUC2 EXON Missense_T1910S exm874842 11 1094721 [A/G] NM_002457 MUC2 EXON Missense_V1933M exm874845 11 1094761 [A/C] NM_002457 MUC2 EXON Missense_T1946N exm874854 11 1095145 [A/G] NM_002457 MUC2 EXON Missense_N1985D exm874865 11 1095302 [T/C] NM_002457 MUC2 EXON Missense_P2037L exm874874 11 1095752 [T/C] NM_002457 MUC2 EXON Missense_P2084L exm874879 11 1095793 [T/C] NM_002457 MUC2 EXON Missense_R2098C exm874891 11 1096411 [A/G] NM_002457 MUC2 EXON Missense_V2142M exm874897 11 1096498 [T/C] NM_002457 MUC2 EXON Missense_R2171C exm874901 11 1096514 [A/G] NM_002457 MUC2 EXON Missense_R2176H exm874921 11 1097749 [A/C] NM_002457 MUC2 EXON Missense_N2277T exm874924 11 1097784 [A/G] NM_002457 MUC2 EXON Missense_D2289N exm874931 11 1097838 [A/G] NM_002457 MUC2 EXON Missense_V2307I exm2276981 11 1098649 [A/C] NM_002457 MUC2 EXON Missense_A2336D exm874949 11 1098756 [A/G] NM_002457 MUC2 EXON Missense_A2372T exm874957 11 1101009 [A/G] NM_002457 MUC2 EXON Missense_E2466K exm874959 11 1101078 [A/G] NM_002457 MUC2 EXON Missense_S2489G exm874963 11 1101127 [T/C] NM_002457 MUC2 EXON Missense_T2505M exm874967 11 1101587 [T/C] NM_002457 MUC2 EXON Missense_P2530S exm2249558 11 1101949 [T/C] NM_002457 MUC2 EXON Synonymous_Y2567Y exm874975 11 1102090 [T/C] NM_002457 MUC2 EXON Missense_P2572S exm874984 11 1103192 [A/G] NM_002457 MUC2 EXON Missense_G2644R exm874987 11 1103250 [T/A] NM_002457 MUC2 EXON Missense_H2663L exm874990 11 1103270 [A/G] NM_002457 MUC2 EXON Missense_V2670I exm874992 11 1103313 [T/G] NM_002457 MUC2 EXON Missense_I2684S exm874996 11 1103562 [A/T] NM_002457 MUC2 EXON Missense_I2688N exm875004 11 1103860 [A/C] NM_002457 MUC2 EXON Missense_T2716K exm875016 11 1104141 [A/G] NM_002457 MUC2 EXON Missense_G2774S exm875339 11 1246941 [A/G] NM_002458 MUC5B EXON Missense_E34G exm875344 11 1247458 [T/C] NM_002458 MUC5B EXON Missense_R51W exm875352 11 1247868 [T/C] NM_002458 MUC5B EXON Missense_R75W exm875362 11 1248001 [A/G] NM_002458 MUC5B EXON Missense_R119H exm875366 11 1248087 [A/G] NM_002458 MUC5B EXON Missense_V148I exm875383 11 1248620 [A/G] NM_002458 MUC5B EXON Missense_Y220C exm875414 11 1251004 [T/C] NM_002458 MUC5B EXON Missense_P396L exm875421 11 1251368 [A/T] NM_002458 MUC5B EXON Missense_S452T exm875430 11 1251819 [A/G] NM_002458 MUC5B EXON Missense_G487S exm875432 11 1251829 [T/C] NM_002458 MUC5B EXON Missense_T490M exm875437 11 1252215 [T/C] NM_002458 MUC5B EXON Missense_T507M exm875450 11 1253691 [T/C] NM_002458 MUC5B EXON Missense_R619W exm875458 11 1253773 [T/C] NM_002458 MUC5B EXON Missense_S646L exm875461 11 1253904 [T/C] NM_002458 MUC5B EXON Missense_R657W exm875468 11 1253976 [A/G] NM_002458 MUC5B EXON Missense_S681G exm875474 11 1254287 [A/G] NM_002458 MUC5B EXON Missense_V704M exm875477 11 1254315 [C/G] NM_002458 MUC5B EXON Missense_R713P exm875478 11 1254317 [A/G] NM_002458 MUC5B EXON Missense_G714S exm2218226 11 1254356 [A/G] NM_002458 MUC5B EXON Missense_V727M exm875484 11 1254407 [A/G] NM_002458 MUC5B EXON Missense_G744S exm875493 11 1255486 [A/C] NM_002458 MUC5B EXON Missense_T810N exm875505 11 1256409 [A/G] NM_002458 MUC5B EXON Missense_D909N exm875508 11 1256549 [A/C] NM_002458 MUC5B EXON Missense_N929T exm875511 11 1256570 [A/G] NM_002458 MUC5B EXON Missense_R936H exm875535 11 1258197 [A/G] NM_002458 MUC5B EXON Missense_I1034V exm875537 11 1258213 [T/C] NM_002458 MUC5B EXON Missense_T1039M exm875543 11 1258240 [T/C] NM_002458 MUC5B EXON Missense_A1048V exm875554 11 1258359 [T/C] NM_002458 MUC5B EXON Missense_L1088F exm875556 11 1258377 [A/G] NM_002458 MUC5B EXON Missense_A1094T exm875558 11 1258387 [A/G] NM_002458 MUC5B EXON Missense_R1097H exm875602 11 1261520 [G/C] NM_002458 MUC5B EXON Missense_I1295M exm875604 11 1261542 [T/C] NM_002458 MUC5B EXON Missense_P1303S exm875606 11 1261561 [T/C] NM_002458 MUC5B EXON Missense_T1309M exm875607 11 1261563 [T/C] NM_002458 MUC5B EXON Missense_P1310S exm875617 11 1262189 [T/C] NM_002458 MUC5B EXON Missense_T1360M exm875622 11 1262312 [A/G] NM_002458 MUC5B EXON Missense_R1401H exm875623 11 1262317 [T/C] NM_002458 MUC5B EXON Missense_R1403W exm875624 11 1262318 [A/G] NM_002458 MUC5B EXON Missense_R1403Q exm875635 11 1262467 [A/G] NM_002458 MUC5B EXON Missense_A1453T exm875641 11 1262525 [T/C] NM_002458 MUC5B EXON Missense_P1472L exm875644 11 1262540 [T/C] NM_002458 MUC5B EXON Missense_T1477M exm875662 11 1262818 [A/G] NM_002458 MUC5B EXON Missense_V1570I exm875672 11 1262999 [T/C] NM_002458 MUC5B EXON Missense_T1630M exm875673 11 1263011 [T/C] NM_002458 MUC5B EXON Missense_T1634M exm875685 11 1263185 [C/G] NM_002458 MUC5B EXON Missense_T1692S exm875709 11 1263400 [A/G] NM_002458 MUC5B EXON Missense_R1764G exm875718 11 1263523 [A/G] NM_002458 MUC5B EXON Missense_G1805S exm875724 11 1263605 [T/C] NM_002458 MUC5B EXON Missense_A1832V exm875740 11 1263757 [A/G] NM_002458 MUC5B EXON Missense_S1883G exm875742 11 1263770 [G/C] NM_002458 MUC5B EXON Missense_S1887T exm875743 11 1263776 [T/C] NM_002458 MUC5B EXON Missense_P1889L exm875934 11 1265998 [A/C] NM_002458 MUC5B EXON Missense_L2630I exm876011 11 1267076 [T/C] NM_002458 MUC5B EXON Missense_T2989M exm876015 11 1267115 [A/C] NM_002458 MUC5B EXON Missense_T3002K exm876080 11 1267703 [C/G] NM_002458 MUC5B EXON Missense_S3198T exm876085 11 1267727 [T/C] NM_002458 MUC5B EXON Missense_I3206T exm876390 11 1271353 [A/C] NM_002458 MUC5B EXON Missense_P4415T exm876471 11 1272245 [T/C] NM_002458 MUC5B EXON Missense_T4712M exm876491 11 1272527 [T/C] NM_002458 MUC5B EXON Missense_T4806M exm876493 11 1272554 [T/C] NM_002458 MUC5B EXON Missense_T4815M exm876495 11 1272559 [T/C] NM_002458 MUC5B EXON Missense_R4817W exm876523 11 1272719 [G/C] NM_002458 MUC5B EXON Missense_T4870S exm876527 11 1272754 [A/G] NM_002458 MUC5B EXON Missense_T4882A exm876530 11 1272770 [G/C] NM_002458 MUC5B EXON Missense_P4887R exm876531 11 1272793 [T/C] NM_002458 MUC5B EXON Missense_P4895S exm876532 11 1272797 [T/G] NM_002458 MUC5B EXON Missense_S4896I exm876533 11 1272800 [T/C] NM_002458 MUC5B EXON Missense_S4897L exm876535 11 1272808 [A/G] NM_002458 MUC5B EXON Missense_V4900M exm876536 11 1272821 [A/G] NM_002458 MUC5B EXON Missense_R4904H exm876553 11 1273600 [A/G] NM_002458 MUC5B EXON Missense_R4964Q exm876554 11 1273605 [A/G] NM_002458 MUC5B EXON Missense_G4966S exm876557 11 1273645 [T/C] NM_002458 MUC5B EXON Missense_I4979T exm876559 11 1273659 [A/G] NM_002458 MUC5B EXON Missense_G4984S exm876571 11 1274097 [A/G] NM_002458 MUC5B EXON Missense_R5035H exm876580 11 1275342 [A/G] NM_002458 MUC5B EXON Missense_G5080S exm876584 11 1275472 [T/C] NM_002458 MUC5B EXON Missense_A5123V exm876596 11 1275988 [T/C] NM_002458 MUC5B EXON Missense_L5181P exm876597 11 1276006 [A/G] NM_002458 MUC5B EXON Missense_R5187H exm876600 11 1276109 [T/C] NM_002458 MUC5B EXON Synonymous_C5221C exm876605 11 1276327 [A/G] NM_002458 MUC5B EXON Missense_A5241T exm876609 11 1276366 [A/G] NM_002458 MUC5B EXON Missense_D5254N exm2249659 11 1276467 [A/G] NM_002458 MUC5B EXON Synonymous_P5287P exm876627 11 1276744 [A/G] NM_002458 MUC5B EXON Missense_R5341Q exm876635 11 1277953 [A/G] NM_002458 MUC5B EXON Missense_D5397N exm876644 11 1278763 [A/G] NM_002458 MUC5B EXON Missense_G5425R exm876646 11 1278796 [A/G] NM_002458 MUC5B EXON Missense_V5436M exm2274452 11 1280193 [A/G] NM_002458 MUC5B EXON Missense_A5539T exm876673 11 1280238 [A/G] NM_002458 MUC5B EXON Missense_D5554N exm876683 11 1281251 [T/C] NM_002458 MUC5B EXON Missense_A5620V exm876690 11 1281873 [A/G] NM_002458 MUC5B EXON Missense_I5662V exm876691 11 1281880 [T/C] NM_002458 MUC5B EXON Missense_T5664M exm876692 11 1281885 [A/G] NM_002458 MUC5B EXON Missense_I5666V exm876700 11 1282678 [T/G] NM_002458 MUC5B EXON Missense_V5710G exm876733 11 1298304 [T/C] NM_019009 TOLLIP EXON Missense_I264V exm876741 11 1298412 [A/G] NM_019009 TOLLIP EXON Missense_R228C exm2271450 11 1301688 [T/C] NM_019009 TOLLIP Silent exm876752 11 1307253 [T/C] NM_019009 TOLLIP EXON Missense_V197I exm876754 11 1309854 [T/C] NM_019009 TOLLIP EXON Synonymous_A173A exm876763 11 1309985 [A/G] NM_019009 TOLLIP EXON Missense_R130C exm876764 11 1309988 [T/C] NM_019009 TOLLIP EXON Missense_D129N exm876766 11 1309994 [T/C] NM_019009 TOLLIP EXON Missense_M127V exm876771 11 1311489 [T/C] NM_019009 TOLLIP EXON Missense_V112M exm876777 11 1311533 [T/C] NM_019009 TOLLIP EXON Missense_N97S exm876786 11 1316889 [T/C] NM_019009 TOLLIP EXON Missense_I57V exm876793 11 1316960 [A/C] NM_019009 TOLLIP EXON Missense_V33G exm-rs2090192 11 1401890 [A/G] exm2259730 11 1405829 [A/C] exm876833 11 1462143 [A/C] NM_001256627,NR_046331,NM_001256629,NM_003957,NR_046332,NM_001256630 BRSK2,BRSK2,BRSK2,BRSK2,BRSK2,BRSK2 EXON Missense_H133P,Silent,Missense_H133P,Missense_H133P,Silent,Missense_H179P exm876879 11 1467026 [A/G] NM_001256627,NR_046331,NM_001256629,NM_003957,NR_046332,NM_001256630 BRSK2,BRSK2,BRSK2,BRSK2,BRSK2,BRSK2 EXON Missense_R372Q,Silent,Missense_R372Q,Missense_R372Q,Silent,Missense_R418Q exm876886 11 1467082 [A/G] NM_001256627,NR_046331,NM_001256629,NM_003957,NR_046332,NM_001256630 BRSK2,BRSK2,BRSK2,BRSK2,BRSK2,BRSK2 EXON Missense_G391S,Silent,Missense_G391S,Missense_G391S,Silent,Missense_G437S exm2249698 11 1467093 [A/G] NM_001256627,NR_046331,NM_001256629,NM_003957,NR_046332,NM_001256630 BRSK2,BRSK2,BRSK2,BRSK2,BRSK2,BRSK2 EXON Synonymous_P394P,Silent,Synonymous_P394P,Synonymous_P394P,Silent,Synonymous_P440P exm876936 11 1477642 [C/G] NM_001256627,NR_046331,NM_001256629,NM_003957,NR_046332,NM_001256630 BRSK2,BRSK2,BRSK2,BRSK2,BRSK2,BRSK2 EXON Missense_G578A,Silent,Missense_G578A,Missense_G578A,Silent,Missense_G624A exm876954 11 1480451 [A/G] NM_001256627,NR_046331,NM_001256629,NM_003957,NR_046332,NM_001256630 BRSK2,BRSK2,BRSK2,BRSK2,BRSK2,BRSK2 EXON Missense_G657R,Silent,Silent,Missense_G657R,Silent,Missense_G703R exm876974 11 1482209 [T/C] NM_001256627,NR_046331,NM_001256629,NM_003957,NR_046332,NM_001256630 BRSK2,BRSK2,BRSK2,BRSK2,BRSK2,BRSK2 EXON Silent,Silent,Silent,Missense_P666L,Silent,Silent exm876979 11 1491427 [A/G] NM_001172223,NM_053005 MOB2,MOB2 EXON Missense_A261V,Missense_A230V exm877019 11 1507731 [A/G] NM_001172223,NM_053005 MOB2,MOB2 EXON Missense_L19P,Silent exm877274 11 1629693 [T/C] NM_053005,NM_001012708 MOB2,KRTAP5-3 EXON Silent,Silent exm2271451 11 1632180 [T/G] NM_053005 MOB2 Silent exm877384 11 1651766 [G/C] NM_053005,NM_001001480 MOB2,KRTAP5-5 EXON Silent,Missense_C232W exm877407 11 1718714 [T/G] NM_053005,NM_001012416 MOB2,KRTAP5-6 EXON Silent,Missense_C80F exm877414 11 1718833 [T/G] NM_053005,NM_001012416 MOB2,KRTAP5-6 EXON Silent,Missense_C120G exm877416 11 1718856 [A/C] NM_053005,NM_001012416 MOB2,KRTAP5-6 EXON Silent,Nonsense_C127X exm877423 11 1769085 [A/G] NM_053005,NM_001170820 MOB2,IFITM10 EXON Silent,Missense_R117W exm877432 11 1774770 [T/C] NM_053005,NM_001909 MOB2,CTSD EXON Silent,Missense_N401S exm877435 11 1774810 [T/C] NM_053005,NM_001909 MOB2,CTSD EXON Silent,Missense_V388I exm877445 11 1775095 [T/C] NM_053005,NM_001909 MOB2,CTSD EXON Silent,Missense_A337T exm877454 11 1775352 [T/C] NM_053005,NM_001909 MOB2,CTSD EXON Silent,Missense_G282R exm877462 11 1776205 [T/C] NM_053005,NM_001909 MOB2,CTSD EXON Silent,Missense_K253R exm877472 11 1778725 [A/C] NM_053005,NM_001909 MOB2,CTSD EXON Silent,Missense_V178G exm2218363 11 1780260 [A/G] NM_053005,NM_001909 MOB2,CTSD EXON Silent,Missense_S137L exm877483 11 1780815 [T/C] NM_053005,NM_001909 MOB2,CTSD EXON Silent,Missense_V95I exm877498 11 1782594 [A/G] NM_053005,NM_001909 MOB2,CTSD EXON Silent,Missense_A58V exm877499 11 1782613 [T/C] NM_053005,NM_001909 MOB2,CTSD EXON Silent,Missense_V52I exm877513 11 1855821 [C/G] NM_138567 SYT8 EXON Missense_W7S exm877519 11 1856344 [A/C] NM_138567 SYT8 EXON Missense_H17Q exm877523 11 1856532 [A/G] NM_138567 SYT8 EXON Missense_R48H exm877534 11 1856615 [T/C] NM_138567 SYT8 EXON Missense_R76C exm877548 11 1857117 [T/G] NM_138567 SYT8 EXON Missense_V101G exm877554 11 1857168 [A/G] NM_138567 SYT8 EXON Nonsense_W118X exm877556 11 1857173 [T/C] NM_138567 SYT8 EXON Missense_C120R exm877573 11 1857434 [A/G] NM_138567 SYT8 EXON Missense_T160A exm2218390 11 1857470 [T/C] NM_138567 SYT8 EXON Nonsense_R172X exm877577 11 1857480 [T/G] NM_138567 SYT8 EXON Missense_L175R exm877578 11 1857488 [A/G] NM_138567 SYT8 EXON Missense_V178M exm877580 11 1857497 [A/G] NM_138567 SYT8 EXON Missense_E181K exm877581 11 1857514 [T/C] NM_138567 SYT8 EXON Synonymous_H186H exm877582 11 1857515 [A/G] NM_138567 SYT8 Silent exm877585 11 1857719 [T/C] NM_138567 SYT8 EXON Missense_S208L exm877588 11 1857751 [C/G] NM_138567 SYT8 EXON Missense_P219A exm877597 11 1857989 [T/G] NM_138567 SYT8 EXON Nonsense_E244X exm877602 11 1858041 [A/G] NM_138567 SYT8 EXON Missense_R261Q exm877604 11 1858076 [T/C] NM_138567 SYT8 EXON Missense_R273C exm877605 11 1858077 [A/G] NM_138567 SYT8 EXON Missense_R273H exm877610 11 1858262 [T/C] NM_138567 SYT8 EXON Missense_T303M exm877624 11 1858479 [A/G] NM_138567 SYT8 EXON Missense_V342I exm877634 11 1858632 [T/C] NM_138567 SYT8 EXON Missense_R393C exm877654 11 1861761 [A/G] NM_003282,NM_001145829,NM_001145841 TNNI2,TNNI2,TNNI2 EXON Missense_V21M,Missense_V21M,Missense_V21M exm877659 11 1861852 [T/C] NM_003282,NM_001145829,NM_001145841 TNNI2,TNNI2,TNNI2 EXON Missense_P51L,Missense_P51L,Missense_P51L exm-rs907611 11 1874072 [A/G] exm877682 11 1874388 [T/C] NM_002339 LSP1 EXON Missense_S5L exm877705 11 1901358 [T/C] NM_002339,NM_001242932,NM_001013253,NM_001013254,NM_001013255 LSP1,LSP1,LSP1,LSP1,LSP1 EXON Missense_V32A,Missense_V160A,Silent,Silent,Silent exm1704771 11 1901408 [A/G] NM_002339,NM_001242932,NM_001013253,NM_001013254,NM_001013255 LSP1,LSP1,LSP1,LSP1,LSP1 EXON Missense_E49K,Missense_E177K,Silent,Silent,Silent exm877713 11 1901435 [T/C] NM_002339,NM_001242932,NM_001013253,NM_001013254,NM_001013255 LSP1,LSP1,LSP1,LSP1,LSP1 EXON Missense_R58W,Missense_R186W,Silent,Silent,Silent exm877714 11 1901436 [A/G] NM_002339,NM_001242932,NM_001013253,NM_001013254,NM_001013255 LSP1,LSP1,LSP1,LSP1,LSP1 EXON Missense_R58Q,Missense_R186Q,Silent,Silent,Silent exm877716 11 1901454 [T/C] NM_002339,NM_001242932,NM_001013253,NM_001013254,NM_001013255 LSP1,LSP1,LSP1,LSP1,LSP1 EXON Missense_L64P,Missense_L192P,Missense_L2P,Missense_L2P,Missense_L2P exm877729 11 1902781 [G/C] NM_002339,NM_001242932,NM_001013253,NM_001013254,NM_001013255 LSP1,LSP1,LSP1,LSP1,LSP1 EXON Missense_G104A,Missense_G232A,Missense_G42A,Missense_G42A,Missense_G42A exm877731 11 1902793 [T/A] NM_002339,NM_001242932,NM_001013253,NM_001013254,NM_001013255 LSP1,LSP1,LSP1,LSP1,LSP1 EXON Missense_Q108L,Missense_Q236L,Missense_Q46L,Missense_Q46L,Missense_Q46L exm877735 11 1904714 [A/G] NM_002339,NM_001242932,NM_001013253,NM_001013254,NM_001013255 LSP1,LSP1,LSP1,LSP1,LSP1 EXON Missense_S141N,Missense_S269N,Missense_S79N,Missense_S79N,Missense_S79N exm877738 11 1904753 [A/G] NM_002339,NM_001242932,NM_001013253,NM_001013254,NM_001013255 LSP1,LSP1,LSP1,LSP1,LSP1 EXON Missense_N154S,Missense_N282S,Missense_N92S,Missense_N92S,Missense_N92S exm877740 11 1905173 [T/G] NM_002339,NM_001242932,NM_001013253,NM_001013254,NM_001013255 LSP1,LSP1,LSP1,LSP1,LSP1 EXON Missense_C170W,Missense_C298W,Missense_C108W,Missense_C108W,Missense_C108W exm877741 11 1905175 [A/G] NM_002339,NM_001242932,NM_001013253,NM_001013254,NM_001013255 LSP1,LSP1,LSP1,LSP1,LSP1 EXON Missense_Q171R,Missense_Q299R,Missense_Q109R,Missense_Q109R,Missense_Q109R exm1704787 11 1905516 [T/G] NM_002339,NM_001242932,NM_001013253,NM_001013254,NM_001013255 LSP1,LSP1,LSP1,LSP1,LSP1 EXON Missense_D200Y,Missense_D328Y,Missense_D138Y,Missense_D138Y,Missense_D138Y exm877751 11 1905744 [A/G] NM_002339,NM_001242932,NM_001013253,NM_001013254,NM_001013255 LSP1,LSP1,LSP1,LSP1,LSP1 EXON Missense_K217R,Missense_K345R,Missense_K155R,Missense_K155R,Missense_K155R exm-rs3817198 11 1909006 [T/C] NM_002339,NM_001242932,NM_001013253,NM_001013254,NM_001013255 LSP1,LSP1,LSP1,LSP1,LSP1 Silent,Silent,Silent,Silent,Silent exm-rs909116 11 1941946 [T/C] NM_006757,NM_001042782,NM_001042781,NM_001042780 TNNT3,TNNT3,TNNT3,TNNT3 Silent,Silent,Silent,Silent exm877814 11 1947706 [A/G] NM_006757,NM_001042782,NM_001042781,NM_001042780 TNNT3,TNNT3,TNNT3,TNNT3 EXON Silent,Silent,Missense_E32G,Silent exm877838 11 1955067 [T/C] NM_006757,NM_001042782,NM_001042781,NM_001042780 TNNT3,TNNT3,TNNT3,TNNT3 EXON Synonymous_I96I,Synonymous_I88I,Synonymous_I94I,Synonymous_I88I exm877844 11 1955200 [T/C] NM_006757,NM_001042782,NM_001042781,NM_001042780 TNNT3,TNNT3,TNNT3,TNNT3 EXON Missense_R110C,Missense_R102C,Missense_R108C,Missense_R102C exm877897 11 1972143 [A/G] NM_021134 MRPL23 EXON Missense_R11Q exm2249744 11 1972144 [T/G] NM_021134 MRPL23 EXON Synonymous_R11R exm877913 11 1973412 [A/G] NM_021134 MRPL23 EXON Missense_A66T exm877928 11 1977552 [A/G] NM_021134 MRPL23 EXON Missense_A122T exm877931 11 1977567 [T/G] NM_021134 MRPL23 EXON Missense_Y127D exm877932 11 1977613 [T/C] NM_021134 MRPL23 EXON Missense_P142L exm2271452 11 2059195 [T/C] exm878010 11 2154293 [T/C] NR_003512,NM_001127598,NM_001007139,NM_000612 INS-IGF2,IGF2,IGF2,IGF2 EXON Silent,Missense_R212H,Missense_R156H,Missense_R156H exm878032 11 2156695 [A/G] NR_003512,NM_001127598,NM_001007139,NM_000612 INS-IGF2,IGF2,IGF2,IGF2 EXON Silent,Missense_S76L,Missense_S20L,Missense_S20L exm878042 11 2161530 [T/C] NR_003512,NM_001127598,NM_001007139 INS-IGF2,IGF2,IGF2 Silent,Silent,Silent exm878082 11 2169014 [A/G] NR_003512,NM_001007139,NR_028043,NR_028044,NM_001042376 INS-IGF2,IGF2,IGF2-AS,IGF2-AS,INS-IGF2 EXON Silent,Silent,Silent,Silent,Missense_L144P exm-rs3741208 11 2169774 [A/G] NR_003512,NM_001007139,NR_028043,NR_028044,NM_001042376 INS-IGF2,IGF2,IGF2-AS,IGF2-AS,INS-IGF2 EXON Silent,Silent,Silent,Silent,Silent exm-rs1004446 11 2170143 [A/G] NR_003512,NM_001007139,NM_001042376 INS-IGF2,IGF2,INS-IGF2 Silent,Silent,Silent exm878087 11 2170359 [T/G] NR_003512,NM_001007139,NM_001042376 INS-IGF2,IGF2,INS-IGF2 EXON Silent,Silent,Missense_Y135S exm878090 11 2170443 [T/C] NR_003512,NM_001007139,NM_001042376 INS-IGF2,IGF2,INS-IGF2 EXON Silent,Silent,Missense_R107Q exm2249764 11 2170457 [T/C] NR_003512,NM_001007139,NM_001042376 INS-IGF2,IGF2,INS-IGF2 EXON Silent,Silent,Synonymous_S102S exm878098 11 2170548 [G/C] NR_003512,NM_001007139,NM_001042376 INS-IGF2,IGF2,INS-IGF2 EXON Silent,Silent,Missense_T72R exm878105 11 2181188 [T/C] NR_003512,NM_001042376,NM_001185098,NM_000207,NM_001185097 INS-IGF2,INS-IGF2,INS,INS,INS EXON Silent,Silent,Missense_S76N,Missense_S76N,Missense_S76N exm878106 11 2181191 [T/C] NR_003512,NM_001042376,NM_001185098,NM_000207,NM_001185097 INS-IGF2,INS-IGF2,INS,INS,INS EXON Silent,Silent,Missense_G75D,Missense_G75D,Missense_G75D exm878124 11 2185482 [A/G] NM_199292,NM_000360,NM_199293 TH,TH,TH EXON Missense_A523V,Missense_A492V,Missense_A519V exm878134 11 2185608 [T/C] NM_199292,NM_000360,NM_199293 TH,TH,TH EXON Missense_R481H,Missense_R450H,Missense_R477H exm878139 11 2186519 [A/G] NM_199292,NM_000360,NM_199293 TH,TH,TH EXON Missense_T457M,Missense_T426M,Missense_T453M exm878140 11 2186541 [T/C] NM_199292,NM_000360,NM_199293 TH,TH,TH EXON Missense_V450M,Missense_V419M,Missense_V446M exm878149 11 2187275 [A/G] NM_199292,NM_000360,NM_199293 TH,TH,TH EXON Missense_A385V,Missense_A354V,Missense_A381V exm878160 11 2188166 [T/G] NM_199292,NM_000360,NM_199293 TH,TH,TH EXON Nonsense_Y295X,Nonsense_Y264X,Nonsense_Y291X exm2249768 11 2188238 [T/C] NM_199292,NM_000360,NM_199293 TH,TH,TH EXON Synonymous_K271K,Synonymous_K240K,Synonymous_K267K exm878185 11 2189141 [T/C] NM_199292,NM_000360,NM_199293 TH,TH,TH EXON Missense_R231H,Missense_R200H,Missense_R227H exm878192 11 2189321 [T/C] NM_199292,NM_000360,NM_199293 TH,TH,TH EXON Synonymous_P223P,Synonymous_P192P,Synonymous_P219P exm878193 11 2189347 [T/C] NM_199292,NM_000360,NM_199293 TH,TH,TH EXON Missense_D215N,Missense_D184N,Missense_D211N exm878199 11 2189756 [A/G] NM_199292,NM_000360,NM_199293 TH,TH,TH EXON Missense_V182A,Missense_V151A,Missense_V178A exm878206 11 2189843 [T/C] NM_199292,NM_000360,NM_199293 TH,TH,TH EXON Missense_R153Q,Missense_R122Q,Missense_R149Q exm2218430 11 2189846 [A/G] NM_199292,NM_000360,NM_199293 TH,TH,TH EXON Missense_P152L,Missense_P121L,Missense_P148L exm878209 11 2189861 [T/C] NM_199292,NM_000360,NM_199293 TH,TH,TH EXON Missense_R147Q,Missense_R116Q,Missense_R143Q exm878235 11 2192914 [T/C] NM_199292,NM_000360,NM_199293 TH,TH,TH Silent,Silent,Silent exm878237 11 2192927 [T/C] NM_199292,NM_000360,NM_199293 TH,TH,TH EXON Missense_M30I,Missense_M30I,Missense_M30I exm878238 11 2192936 [A/C] NM_199292,NM_000360,NM_199293 TH,TH,TH EXON Missense_E27D,Missense_E27D,Missense_E27D exm878239 11 2192950 [T/C] NM_199292,NM_000360,NM_199293 TH,TH,TH EXON Missense_A23T,Missense_A23T,Missense_A23T exm878242 11 2193001 [T/C] NM_199292,NM_000360,NM_199293 TH,TH,TH EXON Missense_A6T,Missense_A6T,Missense_A6T exm-rs7111341 11 2213166 [T/C] exm878264 11 2321829 [T/C] NM_001142946,NR_024621 C11orf21,C11orf21 EXON Nonsense_W69X,Silent exm878270 11 2323022 [T/C] NM_001142946,NR_024621 C11orf21,C11orf21 EXON Missense_V24M,Silent exm878273 11 2323089 [T/C] NM_001142946,NR_024621 C11orf21,C11orf21 EXON Missense_M1I,Silent exm878280 11 2323396 [A/G] NM_139022 TSPAN32 EXON Missense_R6Q exm878286 11 2324173 [G/C] NM_139022 TSPAN32 EXON Missense_A56P exm878289 11 2325384 [A/G] NM_139022 TSPAN32 EXON Missense_V77M exm878292 11 2325427 [T/C] NM_139022 TSPAN32 EXON Missense_M91T exm878304 11 2334893 [A/G] NM_139022 TSPAN32 EXON Missense_A122T exm878311 11 2334954 [A/G] NM_139022 TSPAN32 EXON Missense_R142Q exm878312 11 2334957 [A/G] NM_139022 TSPAN32 EXON Missense_R143Q exm878314 11 2335748 [T/C] NM_139022 TSPAN32 EXON Missense_R164C exm878331 11 2337860 [A/G] NM_139022 TSPAN32 EXON Missense_S228G exm878335 11 2338639 [A/G] NM_139022 TSPAN32 EXON Missense_C262Y exm878339 11 2338681 [T/C] NM_139022 TSPAN32 EXON Missense_S276L exm878342 11 2338692 [T/C] NM_139022 TSPAN32 EXON Missense_R280W exm1706282 11 2339111 [A/G] NM_139022 TSPAN32 EXON Missense_R307H exm878348 11 2339137 [T/C] NM_139022 TSPAN32 EXON Missense_R316W exm878349 11 2339138 [A/G] NM_139022 TSPAN32 EXON Missense_R316Q exm1706421 11 2423889 [T/C] NM_005706 TSSC4 EXON Missense_P9L exm878435 11 2423913 [A/C] NM_005706 TSSC4 EXON Missense_H17P exm878436 11 2423919 [T/C] NM_005706 TSSC4 EXON Missense_T19M exm878441 11 2423942 [A/G] NM_005706 TSSC4 EXON Missense_D27N exm878447 11 2424090 [T/C] NM_005706 TSSC4 EXON Missense_T76M exm1706425 11 2424105 [A/G] NM_005706 TSSC4 EXON Missense_H81R exm878451 11 2424180 [A/G] NM_005706 TSSC4 EXON Missense_R106Q exm878452 11 2424211 [A/G] NM_005706 TSSC4 EXON Missense_M116I exm878454 11 2424234 [A/G] NM_005706 TSSC4 EXON Missense_R124Q exm878460 11 2424329 [A/G] NM_005706 TSSC4 EXON Missense_V156M exm878462 11 2424377 [A/G] NM_005706 TSSC4 EXON Missense_E172K exm878463 11 2424384 [A/G] NM_005706 TSSC4 EXON Missense_S174N exm878464 11 2424386 [A/G] NM_005706 TSSC4 EXON Missense_E175K exm878470 11 2424527 [A/G] NM_005706 TSSC4 EXON Missense_V222I exm878472 11 2424541 [C/G] NM_005706 TSSC4 EXON Missense_H226Q exm878473 11 2424553 [C/G] NM_005706 TSSC4 EXON Missense_R230S exm878486 11 2424684 [A/C] NM_005706 TSSC4 EXON Missense_H274P exm878502 11 2424809 [T/C] NM_005706 TSSC4 EXON Missense_R316W exm878504 11 2424821 [A/T] NM_005706 TSSC4 EXON Missense_S320C exm878514 11 2426215 [T/G] NM_014555 TRPM5 EXON Missense_L1150F exm878515 11 2426238 [C/G] NM_014555 TRPM5 EXON Missense_A1143P exm878518 11 2426259 [T/C] NM_014555 TRPM5 EXON Missense_G1136S exm878520 11 2426760 [A/G] NM_014555 TRPM5 EXON Missense_R1130W exm878526 11 2426793 [T/C] NM_014555 TRPM5 EXON Missense_V1119M exm878536 11 2427275 [T/G] NM_014555 TRPM5 EXON Missense_K1100Q exm878540 11 2427305 [T/C] NM_014555 TRPM5 EXON Missense_K1090E exm878549 11 2427906 [A/C] NM_014555 TRPM5 EXON Missense_R1079L exm1706448 11 2427907 [A/G] NM_014555 TRPM5 EXON Missense_R1079W exm878558 11 2428390 [T/C] NM_014555 TRPM5 EXON Missense_R1026Q exm878560 11 2428399 [A/G] NM_014555 TRPM5 EXON Missense_T1023M exm878563 11 2428448 [A/G] NM_014555 TRPM5 EXON Missense_R1007C exm878572 11 2429032 [A/C] NM_014555 TRPM5 EXON Missense_V965F exm878583 11 2432666 [T/C] NM_014555 TRPM5 EXON Missense_G900S exm878585 11 2432686 [A/G] NM_014555 TRPM5 EXON Missense_A893V exm878589 11 2432744 [A/C] NM_014555 TRPM5 EXON Missense_F874V exm878618 11 2434109 [T/C] NM_014555 TRPM5 EXON Missense_A744T exm878625 11 2434202 [A/G] NM_014555 TRPM5 EXON Nonsense_R713X exm878630 11 2434397 [A/G] NM_014555 TRPM5 EXON Missense_T688M exm878631 11 2434399 [G/C] NM_014555 TRPM5 EXON Missense_D687E exm878636 11 2434731 [T/C] NM_014555 TRPM5 EXON Missense_V660I exm878638 11 2434763 [T/C] NM_014555 TRPM5 EXON Missense_R649Q exm878639 11 2434770 [T/C] NM_014555 TRPM5 EXON Missense_I647V exm878649 11 2435376 [T/C] NM_014555 TRPM5 EXON Missense_R602Q exm878650 11 2435379 [T/C] NM_014555 TRPM5 EXON Missense_R601H exm878664 11 2436038 [T/C] NM_014555 TRPM5 EXON Missense_A551T exm878668 11 2436158 [T/C] NM_014555 TRPM5 EXON Missense_M533I exm878671 11 2436201 [T/C] NM_014555 TRPM5 EXON Missense_R519Q exm878672 11 2436202 [A/G] NM_014555 TRPM5 EXON Missense_R519W exm878677 11 2436258 [T/C] NM_014555 TRPM5 EXON Missense_R500Q exm2218447 11 2436373 [T/C] NM_014555 TRPM5 EXON Missense_R486Q exm878687 11 2436425 [A/C] NM_014555 TRPM5 EXON Missense_V469L exm878692 11 2436464 [T/C] NM_014555 TRPM5 EXON Missense_A456T exm878697 11 2436497 [T/C] NM_014555 TRPM5 EXON Missense_G445S exm878702 11 2436559 [T/C] NM_014555 TRPM5 EXON Missense_R424H exm878717 11 2437174 [T/C] NM_014555 TRPM5 EXON Missense_A364T exm878720 11 2437186 [A/G] NM_014555 TRPM5 EXON Missense_R360C exm878729 11 2439033 [T/G] NM_014555 TRPM5 EXON Missense_H311Q exm878737 11 2439542 [A/G] NM_014555 TRPM5 EXON Missense_V254A exm878744 11 2439767 [T/C] NM_014555 TRPM5 EXON Missense_N235S exm878752 11 2441499 [T/C] NM_014555 TRPM5 EXON Missense_R201Q exm878758 11 2441607 [T/C] NM_014555 TRPM5 EXON Missense_D165G exm878777 11 2443430 [A/G] NM_014555 TRPM5 EXON Missense_M80T exm878781 11 2443481 [A/G] NM_014555 TRPM5 EXON Missense_P63L exm878784 11 2443523 [A/G] NM_014555 TRPM5 EXON Missense_P49L exm1706553 11 2443534 [A/G] NM_014555 TRPM5 EXON Synonymous_S45S exm878789 11 2444188 [T/C] NM_014555 TRPM5 EXON Missense_E27K exm878791 11 2444215 [G/C] NM_014555 TRPM5 EXON Missense_R18G exm878794 11 2444239 [T/C] NM_014555 TRPM5 EXON Missense_G10R exm878797 11 2444250 [T/C] NM_014555 TRPM5 EXON Missense_G6D exm2267247 11 2473131 [A/G] NM_000218 KCNQ1 Silent exm-rs2074238 11 2484803 [T/C] NM_000218,NR_040711 KCNQ1,KCNQ1 Silent,Silent exm-rs12296050 11 2489342 [T/C] NM_000218,NR_040711 KCNQ1,KCNQ1 Silent,Silent exm-rs12576239 11 2502319 [T/C] NM_000218,NR_040711 KCNQ1,KCNQ1 Silent,Silent exm2271453 11 2511527 [T/C] NM_000218,NR_040711 KCNQ1,KCNQ1 Silent,Silent exm878824 11 2549229 [T/C] NM_000218,NR_040711 KCNQ1,KCNQ1 EXON Missense_T153M,Silent exm-rs179429 11 2550730 [A/G] NM_000218,NR_040711 KCNQ1,KCNQ1 Silent,Silent exm878836 11 2591964 [A/G] NM_000218,NR_040711 KCNQ1,KCNQ1 EXON Missense_R195Q,Silent exm878838 11 2591983 [T/C] NM_000218,NR_040711 KCNQ1,KCNQ1 EXON Synonymous_I201I,Silent exm878863 11 2608850 [T/G] NM_000218,NR_040711 KCNQ1,KCNQ1 EXON Missense_K393N,Silent exm878864 11 2608860 [T/C] NM_000218,NR_040711 KCNQ1,KCNQ1 EXON Missense_R397W,Silent exm878866 11 2608893 [C/G] NM_000218,NR_040711 KCNQ1,KCNQ1 EXON Missense_P408A,Silent exm878873 11 2610027 [A/G] NM_000218,NR_040711 KCNQ1,KCNQ1 EXON Missense_D446N,Silent exm878884 11 2610079 [G/C] NM_000218,NR_040711 KCNQ1,KCNQ1 EXON Missense_S463T,Silent exm-rs2237878 11 2766282 [A/G] NM_000218,NR_040711 KCNQ1,KCNQ1 Silent,Silent exm878894 11 2790111 [T/C] NM_000218,NR_040711 KCNQ1,KCNQ1 EXON Nonsense_R518X,Silent exm878895 11 2790112 [A/G] NM_000218,NR_040711 KCNQ1,KCNQ1 EXON Missense_R518Q,Silent exm-rs2237886 11 2810731 [T/C] NM_000218,NR_040711 KCNQ1,KCNQ1 Silent,Silent exm-rs2237892 11 2839751 [T/C] NM_000218,NR_040711 KCNQ1,KCNQ1 Silent,Silent exm-rs2237895 11 2857194 [A/C] NM_000218,NR_040711 KCNQ1,KCNQ1 Silent,Silent exm-rs2237897 11 2858546 [T/C] NM_000218,NR_040711 KCNQ1,KCNQ1 Silent,Silent exm878929 11 2869001 [T/C] NM_000218,NR_040711 KCNQ1,KCNQ1 EXON Missense_T600M,Silent exm878932 11 2869033 [A/G] NM_000218,NR_040711 KCNQ1,KCNQ1 EXON Missense_D611N,Silent exm878934 11 2869063 [A/G] NM_000218,NR_040711 KCNQ1,KCNQ1 EXON Missense_G621S,Silent exm878938 11 2869129 [A/G] NM_000218,NR_040711 KCNQ1,KCNQ1 EXON Missense_G643S,Silent exm878996 11 2909513 [T/C] NM_007105 SLC22A18AS EXON Missense_R220H exm878999 11 2909573 [A/G] NM_007105 SLC22A18AS EXON Missense_T200I exm879000 11 2909574 [T/G] NM_007105 SLC22A18AS EXON Missense_T200P exm879001 11 2909582 [T/G] NM_007105 SLC22A18AS EXON Missense_A197E exm879006 11 2909757 [T/C] NM_007105 SLC22A18AS EXON Missense_G139R exm879010 11 2920666 [T/C] NM_007105 SLC22A18AS EXON Missense_G89D exm879018 11 2924589 [A/G] NM_007105,NM_183233,NM_002555 SLC22A18AS,SLC22A18,SLC22A18 EXON Silent,Missense_R5Q,Missense_R5Q exm879019 11 2924591 [A/G] NM_007105,NM_183233,NM_002555 SLC22A18AS,SLC22A18,SLC22A18 EXON Silent,Missense_A6T,Missense_A6T exm879021 11 2924640 [A/G] NM_007105,NM_183233,NM_002555 SLC22A18AS,SLC22A18,SLC22A18 EXON Silent,Missense_R22Q,Missense_R22Q exm879028 11 2929502 [T/G] NM_183233,NM_002555 SLC22A18,SLC22A18 EXON Missense_G62C,Missense_G62C exm-rs16928809 11 2936952 [A/G] NM_183233,NM_002555 SLC22A18,SLC22A18 Silent,Silent exm879059 11 2937925 [A/G] NM_183233,NM_002555 SLC22A18,SLC22A18 EXON Missense_A204T,Missense_A204T exm879067 11 2939220 [A/G] NM_183233,NM_002555 SLC22A18,SLC22A18 EXON Missense_G220S,Missense_G220S exm879068 11 2939227 [A/G] NM_183233,NM_002555 SLC22A18,SLC22A18 EXON Missense_R222Q,Missense_R222Q exm879072 11 2939269 [A/G] NM_183233,NM_002555 SLC22A18,SLC22A18 EXON Missense_R236Q,Missense_R236Q exm879084 11 2940557 [A/T] NM_183233,NM_002555 SLC22A18,SLC22A18 EXON Missense_S262T,Missense_S262T exm879092 11 2943342 [T/G] NM_183233,NM_002555 SLC22A18,SLC22A18 EXON Missense_G292V,Missense_G292V exm879096 11 2943393 [A/G] NM_183233,NM_002555 SLC22A18,SLC22A18 EXON Missense_R309Q,Missense_R309Q exm879100 11 2943671 [G/C] NM_183233,NM_002555 SLC22A18,SLC22A18 EXON Missense_W324C,Missense_W324C exm879101 11 2943681 [A/G] NM_183233,NM_002555 SLC22A18,SLC22A18 EXON Missense_V328I,Missense_V328I exm879110 11 2946282 [A/G] NM_183233,NM_002555 SLC22A18,SLC22A18 EXON Missense_R377Q,Missense_R377Q exm879116 11 2946317 [T/C] NM_183233,NM_002555 SLC22A18,SLC22A18 EXON Missense_R389C,Missense_R389C exm879119 11 2946335 [A/G] NM_183233,NM_002555 SLC22A18,SLC22A18 EXON Missense_V395I,Missense_V395I exm879125 11 2946399 [T/C] NM_183233,NM_002555 SLC22A18,SLC22A18 EXON Missense_M416T,Missense_M416T exm879147 11 2950458 [T/C] NM_003311 PHLDA2 EXON Missense_R46H exm879157 11 2972505 [A/G] NM_005969 NAP1L4 EXON Missense_A369V exm879173 11 2981088 [T/C] NM_005969 NAP1L4 EXON Missense_V220I exm1707564 11 2991124 [A/G] NM_005969 NAP1L4 EXON Missense_A148V exm879188 11 2992748 [A/G] NM_005969 NAP1L4 EXON Missense_T111I exm879198 11 2997254 [A/G] NM_005969 NAP1L4 EXON Missense_T58I exm879216 11 3022456 [T/A] NM_001751,NM_001194997,NR_036542,NM_139273,NM_001014437 CARS,CARS,CARS,CARS,CARS EXON Missense_E712V,Missense_R798W,Silent,Missense_R715W,Missense_E795V exm879235 11 3028163 [T/C] NM_001751,NM_001194997,NR_036542,NM_139273,NM_001014437 CARS,CARS,CARS,CARS,CARS EXON Missense_A616T,Missense_A699T,Silent,Missense_A616T,Missense_A699T exm879236 11 3028174 [T/C] NM_001751,NM_001194997,NR_036542,NM_139273,NM_001014437 CARS,CARS,CARS,CARS,CARS EXON Missense_Q612R,Missense_Q695R,Silent,Missense_Q612R,Missense_Q695R exm879242 11 3033440 [A/C] NM_001751,NM_001194997,NR_036542,NM_139273,NM_001014437 CARS,CARS,CARS,CARS,CARS EXON Missense_A602S,Missense_A685S,Silent,Missense_A602S,Missense_A685S exm-rs739401 11 3036324 [T/C] NM_001751,NM_001194997,NR_036542,NM_139273,NM_001014437 CARS,CARS,CARS,CARS,CARS Silent,Silent,Silent,Silent,Silent exm879247 11 3037027 [A/G] NM_001751,NM_001194997,NR_036542,NM_139273,NM_001014437 CARS,CARS,CARS,CARS,CARS EXON Missense_P574L,Missense_P657L,Silent,Missense_P574L,Missense_P657L exm879260 11 3039145 [T/C] NM_001751,NM_001194997,NR_036542,NM_139273,NM_001014437 CARS,CARS,CARS,CARS,CARS EXON Missense_V474I,Missense_V557I,Silent,Missense_V474I,Missense_V557I exm879261 11 3039151 [T/C] NM_001751,NM_001194997,NR_036542,NM_139273,NM_001014437 CARS,CARS,CARS,CARS,CARS EXON Missense_A472T,Missense_A555T,Silent,Missense_A472T,Missense_A555T exm879268 11 3039670 [C/G] NM_001751,NM_001194997,NR_036542,NM_139273,NM_001014437 CARS,CARS,CARS,CARS,CARS EXON Missense_E450Q,Missense_E533Q,Silent,Missense_E450Q,Missense_E533Q exm879286 11 3041514 [T/C] NM_001751,NM_001194997,NR_036542,NM_139273,NM_001014437 CARS,CARS,CARS,CARS,CARS EXON Missense_N318S,Missense_N401S,Silent,Missense_N318S,Missense_N401S exm879287 11 3041525 [A/C] NM_001751,NM_001194997,NR_036542,NM_139273,NM_001014437 CARS,CARS,CARS,CARS,CARS EXON Missense_K314N,Missense_K397N,Silent,Missense_K314N,Missense_K397N exm2249798 11 3047976 [A/G] NM_001751,NM_001194997,NR_036542,NM_139273,NM_001014437 CARS,CARS,CARS,CARS,CARS EXON Synonymous_S278S,Synonymous_S361S,Silent,Synonymous_S278S,Synonymous_S361S exm879300 11 3050233 [T/C] NM_001751,NM_001194997,NR_036542,NM_139273,NM_001014437 CARS,CARS,CARS,CARS,CARS EXON Missense_G259S,Missense_G342S,Silent,Missense_G259S,Missense_G342S exm879308 11 3050622 [A/G] NM_001751,NM_001194997,NR_036542,NM_139273,NM_001014437 CARS,CARS,CARS,CARS,CARS EXON Missense_L202F,Missense_L285F,Silent,Missense_L202F,Missense_L285F exm879309 11 3050627 [G/C] NM_001751,NM_001194997,NR_036542,NM_139273,NM_001014437 CARS,CARS,CARS,CARS,CARS EXON Missense_S200C,Missense_S283C,Silent,Missense_S200C,Missense_S283C exm1707680 11 3059308 [G/C] NM_001751,NM_001194997,NR_036542,NM_139273,NM_001014437 CARS,CARS,CARS,CARS,CARS EXON Missense_T175R,Missense_T258R,Silent,Missense_T175R,Missense_T258R exm879325 11 3060507 [A/G] NM_001751,NM_001194997,NR_036542,NM_139273,NM_001014437 CARS,CARS,CARS,CARS,CARS EXON Missense_R107W,Missense_R190W,Silent,Missense_R107W,Missense_R190W exm879331 11 3062180 [A/G] NM_001751,NM_001194997,NR_036542,NM_139273,NM_001014437 CARS,CARS,CARS,CARS,CARS EXON Missense_T51M,Missense_T134M,Silent,Missense_T51M,Missense_T134M exm879338 11 3063474 [T/C] NM_001751,NM_001194997,NR_036542,NM_139273,NM_001014437 CARS,CARS,CARS,CARS,CARS EXON Missense_R13H,Missense_R96H,Silent,Missense_R13H,Missense_R96H exm879339 11 3063475 [A/G] NM_001751,NM_001194997,NR_036542,NM_139273,NM_001014437 CARS,CARS,CARS,CARS,CARS EXON Missense_R13C,Missense_R96C,Silent,Missense_R13C,Missense_R96C exm879340 11 3063478 [A/G] NM_001751,NM_001194997,NR_036542,NM_139273,NM_001014437 CARS,CARS,CARS,CARS,CARS EXON Missense_R12W,Missense_R95W,Silent,Missense_R12W,Missense_R95W exm2249800 11 3109546 [T/C] NM_145638,NM_020896,NM_001144063 OSBPL5,OSBPL5,OSBPL5 EXON Synonymous_T775T,Synonymous_T843T,Synonymous_T775T exm879379 11 3111815 [T/C] NM_145638,NM_020896,NM_001144063 OSBPL5,OSBPL5,OSBPL5 EXON Missense_E723K,Missense_E791K,Missense_E723K exm879380 11 3111844 [A/G] NM_145638,NM_020896,NM_001144063 OSBPL5,OSBPL5,OSBPL5 EXON Missense_T713M,Missense_T781M,Missense_T713M exm879382 11 3111866 [T/C] NM_145638,NM_020896,NM_001144063 OSBPL5,OSBPL5,OSBPL5 EXON Missense_A706T,Missense_A774T,Missense_A706T exm879387 11 3111913 [T/C] NM_145638,NM_020896,NM_001144063 OSBPL5,OSBPL5,OSBPL5 EXON Missense_D690G,Missense_D758G,Missense_D690G exm879391 11 3113696 [A/G] NM_145638,NM_020896,NM_001144063 OSBPL5,OSBPL5,OSBPL5 EXON Missense_T674I,Missense_T742I,Missense_T674I exm879393 11 3113703 [A/G] NM_145638,NM_020896,NM_001144063 OSBPL5,OSBPL5,OSBPL5 EXON Missense_R672C,Missense_R740C,Missense_R672C exm2218475 11 3114106 [T/C] NM_145638,NM_020896,NM_001144063 OSBPL5,OSBPL5,OSBPL5 EXON Missense_R640Q,Missense_R708Q,Missense_R640Q exm879398 11 3114128 [A/T] NM_145638,NM_020896,NM_001144063 OSBPL5,OSBPL5,OSBPL5 EXON Missense_I633F,Missense_I701F,Missense_I633F exm879402 11 3114184 [T/C] NM_145638,NM_020896,NM_001144063 OSBPL5,OSBPL5,OSBPL5 EXON Missense_R614H,Missense_R682H,Missense_R614H exm879403 11 3114190 [T/C] NM_145638,NM_020896,NM_001144063 OSBPL5,OSBPL5,OSBPL5 EXON Missense_R612Q,Missense_R680Q,Missense_R612Q exm879404 11 3114224 [T/C] NM_145638,NM_020896,NM_001144063 OSBPL5,OSBPL5,OSBPL5 EXON Missense_E601K,Missense_E669K,Missense_E601K exm879412 11 3114772 [T/C] NM_145638,NM_020896,NM_001144063 OSBPL5,OSBPL5,OSBPL5 EXON Missense_E576G,Missense_E644G,Missense_E576G exm879416 11 3114820 [T/C] NM_145638,NM_020896,NM_001144063 OSBPL5,OSBPL5,OSBPL5 EXON Missense_R560H,Missense_R628H,Missense_R560H exm879477 11 3128539 [C/G] NM_145638,NM_020896,NM_001144063 OSBPL5,OSBPL5,OSBPL5 EXON Missense_R270P,Missense_R338P,Missense_R270P exm879478 11 3128540 [A/G] NM_145638,NM_020896,NM_001144063 OSBPL5,OSBPL5,OSBPL5 EXON Missense_R270W,Missense_R338W,Missense_R270W exm879483 11 3128575 [A/C] NM_145638,NM_020896,NM_001144063 OSBPL5,OSBPL5,OSBPL5 EXON Missense_G258V,Missense_G326V,Missense_G258V exm879488 11 3128641 [A/G] NM_145638,NM_020896,NM_001144063 OSBPL5,OSBPL5,OSBPL5 EXON Missense_S236L,Missense_S304L,Missense_S236L exm879489 11 3128657 [T/C] NM_145638,NM_020896,NM_001144063 OSBPL5,OSBPL5,OSBPL5 EXON Missense_A231T,Missense_A299T,Missense_A231T exm879496 11 3129103 [A/G] NM_145638,NM_020896,NM_001144063 OSBPL5,OSBPL5,OSBPL5 EXON Missense_P187L,Missense_P255L,Missense_P187L exm879510 11 3141665 [T/C] NM_145638,NM_020896,NM_001144063 OSBPL5,OSBPL5,OSBPL5 EXON Silent,Missense_V198I,Silent exm879512 11 3141734 [T/C] NM_145638,NM_020896,NM_001144063 OSBPL5,OSBPL5,OSBPL5 EXON Silent,Missense_E175K,Silent exm879524 11 3141848 [T/C] NM_145638,NM_020896,NM_001144063 OSBPL5,OSBPL5,OSBPL5 EXON Silent,Missense_G137S,Silent exm879532 11 3143285 [T/C] NM_145638,NM_020896,NM_001144063 OSBPL5,OSBPL5,OSBPL5 EXON Missense_R115Q,Missense_R115Q,Missense_R115Q exm879540 11 3143609 [A/G] NM_145638,NM_020896,NM_001144063 OSBPL5,OSBPL5,OSBPL5 EXON Missense_T90I,Missense_T90I,Missense_T90I exm879541 11 3143637 [T/C] NM_145638,NM_020896,NM_001144063 OSBPL5,OSBPL5,OSBPL5 EXON Missense_G81R,Missense_G81R,Missense_G81R exm879549 11 3147761 [A/G] NM_145638,NM_020896,NM_001144063 OSBPL5,OSBPL5,OSBPL5 EXON Missense_P54L,Missense_P54L,Missense_P54L exm2271454 11 3174177 [T/C] NM_145638,NM_020896,NM_001144063 OSBPL5,OSBPL5,OSBPL5 Silent,Silent,Silent exm879564 11 3239184 [A/C] NM_001164377 MRGPRG EXON Missense_G287V exm879568 11 3239305 [A/G] NM_001164377 MRGPRG EXON Missense_P247S exm879585 11 3239988 [G/C] NM_001164377,NR_027138 MRGPRG,MRGPRG-AS1 EXON Missense_T19R,Silent exm2218483 11 3249219 [A/C] NM_001039165 MRGPRE EXON Missense_C271G exm879607 11 3249311 [T/C] NM_001039165 MRGPRE EXON Missense_R240Q exm879612 11 3249401 [A/G] NM_001039165 MRGPRE EXON Missense_P210L exm879616 11 3249491 [A/C] NM_001039165 MRGPRE EXON Missense_V180G exm879618 11 3249506 [T/C] NM_001039165 MRGPRE EXON Missense_R175Q exm879620 11 3249552 [T/C] NM_001039165 MRGPRE EXON Missense_G160S exm879628 11 3249681 [T/C] NM_001039165 MRGPRE EXON Missense_V117I exm879630 11 3249686 [A/G] NM_001039165 MRGPRE EXON Missense_A115V exm879636 11 3249767 [T/C] NM_001039165 MRGPRE EXON Missense_R88Q exm879638 11 3249783 [T/C] NM_001039165 MRGPRE EXON Missense_D83N exm879642 11 3249828 [T/C] NM_001039165 MRGPRE EXON Missense_A68T exm879645 11 3249842 [A/G] NM_001039165 MRGPRE EXON Missense_L63P exm879646 11 3249852 [T/C] NM_001039165 MRGPRE EXON Missense_I60V exm879653 11 3249972 [A/C] NM_001039165 MRGPRE EXON Missense_D20Y exm879655 11 3249984 [T/C] NM_001039165 MRGPRE EXON Missense_G16S exm879680 11 3380855 [A/G] NR_046381,NR_046382,NM_007152,NR_040083,NM_001256825,NM_001256823,NM_001242843,NM_001242842,NM_001242841,NM_001130519,NM_001256824,NM_001130520 ZNF195,ZNF195,ZNF195,ZNF195,ZNF195,ZNF195,ZNF195,ZNF195,ZNF195,ZNF195,ZNF195,ZNF195 EXON Silent,Silent,Synonymous_T389T,Silent,Synonymous_T393T,Silent,Synonymous_T393T,Synonymous_T416T,Synonymous_T442T,Synonymous_T438T,Synonymous_T424T,Synonymous_T461T exm879683 11 3380998 [T/C] NR_046381,NR_046382,NM_007152,NR_040083,NM_001256825,NM_001256823,NM_001242843,NM_001242842,NM_001242841,NM_001130519,NM_001256824,NM_001130520 ZNF195,ZNF195,ZNF195,ZNF195,ZNF195,ZNF195,ZNF195,ZNF195,ZNF195,ZNF195,ZNF195,ZNF195 EXON Silent,Silent,Missense_E342K,Silent,Missense_E346K,Silent,Missense_E346K,Missense_E369K,Missense_E395K,Missense_E391K,Missense_E377K,Missense_E414K exm879684 11 3381057 [G/C] NR_046381,NR_046382,NM_007152,NR_040083,NM_001256825,NM_001256823,NM_001242843,NM_001242842,NM_001242841,NM_001130519,NM_001256824,NM_001130520 ZNF195,ZNF195,ZNF195,ZNF195,ZNF195,ZNF195,ZNF195,ZNF195,ZNF195,ZNF195,ZNF195,ZNF195 EXON Silent,Silent,Missense_S322T,Silent,Missense_S326T,Silent,Missense_S326T,Missense_S349T,Missense_S375T,Missense_S371T,Missense_S357T,Missense_S394T exm879688 11 3381271 [T/C] NR_046381,NR_046382,NM_007152,NR_040083,NM_001256825,NM_001256823,NM_001242843,NM_001242842,NM_001242841,NM_001130519,NM_001256824,NM_001130520 ZNF195,ZNF195,ZNF195,ZNF195,ZNF195,ZNF195,ZNF195,ZNF195,ZNF195,ZNF195,ZNF195,ZNF195 EXON Silent,Silent,Missense_G251R,Silent,Missense_G255R,Silent,Missense_G255R,Missense_G278R,Missense_G304R,Missense_G300R,Missense_G286R,Missense_G323R exm879720 11 3381986 [T/G] NR_046381,NR_046382,NM_007152,NR_040083,NM_001256825,NM_001256823,NM_001242843,NM_001242842,NM_001242841,NM_001130519,NM_001256824,NM_001130520 ZNF195,ZNF195,ZNF195,ZNF195,ZNF195,ZNF195,ZNF195,ZNF195,ZNF195,ZNF195,ZNF195,ZNF195 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_K91Q,Silent,Silent,Silent,Missense_K136Q exm879723 11 3383015 [A/G] NR_046381,NR_046382,NM_007152,NR_040083,NM_001256825,NM_001256823,NM_001242843,NM_001242842,NM_001242841,NM_001130519,NM_001256824,NM_001130520 ZNF195,ZNF195,ZNF195,ZNF195,ZNF195,ZNF195,ZNF195,ZNF195,ZNF195,ZNF195,ZNF195,ZNF195 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_R115C,Missense_R111C,Silent,Missense_R111C exm879733 11 3392811 [A/G] NR_046381,NR_046382,NM_007152,NR_040083,NM_001256825,NM_001256823,NM_001242843,NM_001242842,NM_001242841,NM_001130519,NM_001256824,NM_001130520 ZNF195,ZNF195,ZNF195,ZNF195,ZNF195,ZNF195,ZNF195,ZNF195,ZNF195,ZNF195,ZNF195,ZNF195 EXON Silent,Silent,Synonymous_S42S,Silent,Synonymous_S46S,Synonymous_S46S,Synonymous_S46S,Synonymous_S46S,Synonymous_S46S,Synonymous_S42S,Synonymous_S46S,Synonymous_S42S exm2267248 11 3645345 [A/G] exm879744 11 3659982 [A/G] NM_053017,NM_001079536 ART5,ART5 EXON Missense_L288F,Missense_L288F exm879746 11 3659993 [T/G] NM_053017,NM_001079536 ART5,ART5 EXON Missense_T284K,Missense_T284K exm879750 11 3660238 [A/G] NM_053017,NM_001079536 ART5,ART5 EXON Missense_A272V,Missense_A272V exm879751 11 3660242 [T/A] NM_053017,NM_001079536 ART5,ART5 EXON Missense_S271T,Missense_S271T exm879752 11 3660256 [A/C] NM_053017,NM_001079536 ART5,ART5 EXON Missense_R266M,Missense_R266M exm879757 11 3660914 [A/G] NM_053017,NM_001079536 ART5,ART5 EXON Missense_Y249H,Missense_Y249H exm879766 11 3661036 [A/G] NM_053017,NM_001079536 ART5,ART5 EXON Missense_A208V,Missense_A208V exm879767 11 3661052 [T/C] NM_053017,NM_001079536 ART5,ART5 EXON Missense_T203A,Missense_T203A exm879770 11 3661129 [T/C] NM_053017,NM_001079536 ART5,ART5 EXON Missense_R177H,Missense_R177H exm879774 11 3661191 [G/C] NM_053017,NM_001079536 ART5,ART5 EXON Missense_E156D,Missense_E156D exm879775 11 3661193 [T/C] NM_053017,NM_001079536 ART5,ART5 EXON Missense_E156K,Missense_E156K exm879777 11 3661243 [T/C] NM_053017,NM_001079536 ART5,ART5 EXON Missense_R139Q,Missense_R139Q exm879796 11 3661585 [A/G] NM_053017,NM_001079536 ART5,ART5 EXON Missense_I25T,Missense_I25T exm879797 11 3661589 [T/G] NM_053017,NM_001079536 ART5,ART5 EXON Missense_P24T,Missense_P24T exm879813 11 3680834 [T/C] NM_004314 ART1 EXON Nonsense_R29X exm879825 11 3680974 [T/G] NM_004314 ART1 EXON Nonsense_Y75X exm879830 11 3681015 [A/G] NM_004314 ART1 EXON Missense_R89H exm879831 11 3681038 [A/C] NM_004314 ART1 EXON Missense_S97R exm879832 11 3681051 [C/G] NM_004314 ART1 EXON Missense_T101S exm879835 11 3681063 [T/C] NM_004314 ART1 EXON Missense_P105L exm879842 11 3681126 [G/C] NM_004314 ART1 EXON Missense_P126R exm879844 11 3681156 [A/G] NM_004314 ART1 EXON Missense_R136H exm879858 11 3681309 [A/G] NM_004314 ART1 EXON Missense_R187Q exm879859 11 3681323 [T/C] NM_004314 ART1 EXON Missense_R192W exm879869 11 3681519 [T/C] NM_004314 ART1 EXON Missense_L257P exm879881 11 3685335 [C/G] NM_004314 ART1 EXON Missense_S300R exm879887 11 3687429 [A/G] NM_020402 CHRNA10 EXON Missense_R421C exm879888 11 3687449 [T/C] NM_020402 CHRNA10 EXON Missense_R414H exm879890 11 3687470 [T/C] NM_020402 CHRNA10 EXON Missense_R407H exm879891 11 3687471 [A/G] NM_020402 CHRNA10 EXON Missense_R407C exm879892 11 3687476 [T/G] NM_020402 CHRNA10 EXON Missense_T405N exm879893 11 3687479 [T/C] NM_020402 CHRNA10 EXON Missense_N404S exm879894 11 3687495 [T/C] NM_020402 CHRNA10 EXON Missense_V399I exm879901 11 3687626 [T/G] NM_020402 CHRNA10 EXON Missense_E355A exm879902 11 3687639 [A/G] NM_020402 CHRNA10 EXON Missense_R351W exm879903 11 3687642 [T/C] NM_020402 CHRNA10 EXON Missense_V350M exm879905 11 3687647 [A/C] NM_020402 CHRNA10 EXON Missense_L348R exm879912 11 3687677 [T/G] NM_020402 CHRNA10 EXON Missense_A338D exm1708904 11 3687678 [T/C] NM_020402 CHRNA10 EXON Missense_A338T exm879915 11 3687779 [A/G] NM_020402 CHRNA10 EXON Missense_A304V exm879923 11 3688615 [A/C] NM_020402 CHRNA10 EXON Missense_V248L exm879924 11 3688617 [T/C] NM_020402 CHRNA10 EXON Missense_C247Y exm879938 11 3688804 [A/G] NM_020402 CHRNA10 EXON Missense_R185W exm879952 11 3690432 [T/C] NM_020402 CHRNA10 EXON Missense_Y119C exm2274453 11 3690513 [T/C] NM_020402 CHRNA10 EXON Missense_R92Q exm879962 11 3690558 [T/G] NM_020402 CHRNA10 EXON Missense_T77N exm2218542 11 3691024 [A/C] NM_020402 CHRNA10 Silent exm879989 11 3697438 [T/C] NM_016320,NM_139132 NUP98,NUP98 EXON Missense_R1785H,Missense_R1711H exm879995 11 3697594 [T/C] NM_016320,NM_139132 NUP98,NUP98 EXON Missense_R1733H,Missense_R1659H exm879996 11 3697597 [A/T] NM_016320,NM_139132 NUP98,NUP98 EXON Missense_K1732I,Missense_K1658I exm879998 11 3697789 [T/C] NM_016320,NM_139132 NUP98,NUP98 EXON Missense_R1712Q,Missense_R1638Q exm880005 11 3700797 [T/C] NM_016320,NM_139132 NUP98,NUP98 EXON Missense_R1687H,Missense_R1613H exm880006 11 3700809 [A/G] NM_016320,NM_139132 NUP98,NUP98 EXON Missense_I1683T,Missense_I1609T exm880007 11 3700816 [T/C] NM_016320,NM_139132 NUP98,NUP98 EXON Missense_R1681G,Missense_R1607G exm880010 11 3700873 [A/G] NM_016320,NM_139132 NUP98,NUP98 EXON Missense_R1662C,Missense_R1588C exm880011 11 3700876 [T/C] NM_016320,NM_139132 NUP98,NUP98 EXON Missense_E1661K,Missense_E1587K exm880016 11 3704444 [T/C] NM_016320,NM_139132 NUP98,NUP98 EXON Missense_R1635Q,Missense_R1561Q exm880017 11 3704454 [A/G] NM_016320,NM_139132 NUP98,NUP98 EXON Missense_L1632F,Missense_L1558F exm880020 11 3704478 [T/C] NM_016320,NM_139132 NUP98,NUP98 EXON Missense_E1624K,Missense_E1550K exm880026 11 3704636 [T/C] NM_016320,NM_139132 NUP98,NUP98 EXON Missense_R1571Q,Missense_R1497Q exm880034 11 3707386 [A/G] NM_016320,NM_139132 NUP98,NUP98 EXON Missense_I1498T,Silent exm880047 11 3714490 [A/G] NM_016320,NM_139132 NUP98,NUP98 EXON Missense_A1428V,Missense_A1428V exm880052 11 3716705 [T/C] NM_016320,NM_139132 NUP98,NUP98 EXON Missense_I1381V,Missense_I1381V exm1708945 11 3716707 [T/C] NM_016320,NM_139132 NUP98,NUP98 EXON Missense_R1380H,Missense_R1380H exm880054 11 3716783 [A/G] NM_016320,NM_139132 NUP98,NUP98 EXON Missense_R1355W,Missense_R1355W exm880056 11 3716835 [T/C] NM_016320,NM_139132 NUP98,NUP98 EXON Synonymous_G1337G,Synonymous_G1337G exm880062 11 3720362 [T/C] NM_016320,NM_139132 NUP98,NUP98 EXON Missense_Y1320C,Missense_Y1320C exm880071 11 3720450 [A/G] NM_016320,NM_139132 NUP98,NUP98 EXON Missense_R1291C,Missense_R1291C exm880074 11 3720483 [T/C] NM_016320,NM_139132 NUP98,NUP98 EXON Missense_I1280V,Missense_I1280V exm880082 11 3721942 [T/C] NM_016320,NM_139132 NUP98,NUP98 EXON Missense_D1214N,Missense_D1214N exm880092 11 3723711 [T/C] NM_016320,NM_139132 NUP98,NUP98 EXON Missense_N1165S,Missense_N1165S exm880093 11 3723730 [T/C] NM_016320,NM_139132 NUP98,NUP98 EXON Missense_E1159K,Missense_E1159K exm880096 11 3723739 [T/C] NM_016320,NM_139132 NUP98,NUP98 EXON Missense_D1156N,Missense_D1156N exm880098 11 3723781 [G/C] NM_016320,NM_139132 NUP98,NUP98 EXON Missense_Q1142E,Missense_Q1142E exm880109 11 3723942 [A/G] NM_016320,NM_139132 NUP98,NUP98 EXON Missense_P1088L,Missense_P1088L exm880114 11 3724050 [A/C] NM_016320,NM_139132 NUP98,NUP98 EXON Missense_R1052L,Missense_R1052L exm2276989 11 3724050 [T/C] NM_016320,NM_139132 NUP98,NUP98 EXON Missense_R1052H,Missense_R1052H exm880118 11 3726438 [T/C] NM_016320,NM_139132 NUP98,NUP98 EXON Missense_R1025H,Missense_R1025H exm880119 11 3726447 [A/G] NM_016320,NM_139132 NUP98,NUP98 EXON Missense_S1022L,Missense_S1022L exm880129 11 3727756 [G/C] NM_016320,NM_139132 NUP98,NUP98 EXON Missense_E948D,Missense_E948D exm880134 11 3733840 [A/G] NM_016320,NM_139132,NM_005387,NM_139131 NUP98,NUP98,NUP98,NUP98 EXON Missense_T899M,Missense_T899M,Missense_T916M,Missense_T899M exm880136 11 3733852 [C/G] NM_016320,NM_139132,NM_005387,NM_139131 NUP98,NUP98,NUP98,NUP98 EXON Missense_A895G,Missense_A895G,Missense_A912G,Missense_A895G exm880145 11 3740652 [T/C] NM_016320,NM_139132,NM_005387,NM_139131 NUP98,NUP98,NUP98,NUP98 EXON Missense_G797R,Missense_G797R,Missense_G814R,Missense_G797R exm880152 11 3741972 [T/C] NM_016320,NM_139132,NM_005387,NM_139131 NUP98,NUP98,NUP98,NUP98 EXON Missense_I744V,Missense_I744V,Missense_I761V,Missense_I744V exm880154 11 3741989 [T/C] NM_016320,NM_139132,NM_005387,NM_139131 NUP98,NUP98,NUP98,NUP98 EXON Missense_N738S,Missense_N738S,Missense_N755S,Missense_N738S exm2267144 11 3743046 [A/G] NM_016320,NM_139132,NM_005387,NM_139131 NUP98,NUP98,NUP98,NUP98 Silent,Silent,Silent,Silent exm880160 11 3744401 [T/C] NM_016320,NM_139132,NM_005387,NM_139131 NUP98,NUP98,NUP98,NUP98 EXON Missense_H711R,Missense_H711R,Missense_H728R,Missense_H711R exm880168 11 3744504 [A/G] NM_016320,NM_139132,NM_005387,NM_139131 NUP98,NUP98,NUP98,NUP98 EXON Missense_R677C,Missense_R677C,Missense_R694C,Missense_R677C exm880174 11 3744605 [G/C] NM_016320,NM_139132,NM_005387,NM_139131 NUP98,NUP98,NUP98,NUP98 EXON Missense_T643S,Missense_T643S,Missense_T660S,Missense_T643S exm880184 11 3752687 [T/C] NM_016320,NM_139132,NM_005387,NM_139131 NUP98,NUP98,NUP98,NUP98 EXON Missense_K555R,Missense_K555R,Missense_K572R,Missense_K555R exm1709078 11 3774594 [A/G] NM_016320,NM_139132,NM_005387,NM_139131 NUP98,NUP98,NUP98,NUP98 EXON Missense_P407S,Missense_P407S,Missense_P424S,Missense_P407S exm1709079 11 3774621 [T/C] NM_016320,NM_139132,NM_005387,NM_139131 NUP98,NUP98,NUP98,NUP98 EXON Missense_S398G,Missense_S398G,Missense_S415G,Missense_S398G exm880210 11 3774623 [G/C] NM_016320,NM_139132,NM_005387,NM_139131 NUP98,NUP98,NUP98,NUP98 EXON Missense_T397S,Missense_T397S,Missense_T414S,Missense_T397S exm880216 11 3784133 [A/G] NM_016320,NM_139132,NM_005387,NM_139131 NUP98,NUP98,NUP98,NUP98 EXON Missense_S362L,Missense_S362L,Missense_S362L,Missense_S362L exm880234 11 3793053 [T/C] NM_016320,NM_139132,NM_005387,NM_139131 NUP98,NUP98,NUP98,NUP98 EXON Missense_A237T,Missense_A237T,Missense_A237T,Missense_A237T exm880238 11 3794876 [T/C] NM_016320,NM_139132,NM_005387,NM_139131 NUP98,NUP98,NUP98,NUP98 EXON Missense_S197G,Missense_S197G,Missense_S197G,Missense_S197G exm880239 11 3794962 [T/G] NM_016320,NM_139132,NM_005387,NM_139131 NUP98,NUP98,NUP98,NUP98 EXON Missense_T168N,Missense_T168N,Missense_T168N,Missense_T168N exm880242 11 3797112 [A/G] NM_016320,NM_139132,NM_005387,NM_139131 NUP98,NUP98,NUP98,NUP98 EXON Synonymous_N165N,Synonymous_N165N,Synonymous_N165N,Synonymous_N165N exm880251 11 3800205 [T/C] NM_016320,NM_139132,NM_005387,NM_139131 NUP98,NUP98,NUP98,NUP98 EXON Missense_T85A,Missense_T85A,Missense_T85A,Missense_T85A exm1709120 11 3832541 [T/C] NM_001256235,NM_001145438,NM_001256236,NR_045927,NR_045926,NR_045923,NR_045925,NM_001256237,NR_027017,NR_027018,NM_001256238,NM_001256239,NM_014489,NM_001256240,NR_045929,NR_027016 PGAP2,PGAP2,PGAP2,PGAP2,PGAP2,PGAP2,PGAP2,PGAP2,PGAP2,PGAP2,PGAP2,PGAP2,PGAP2,PGAP2,PGAP2,PGAP2 EXON Synonymous_S7S,Missense_R75C,Missense_R75C,Silent,Silent,Silent,Silent,Missense_R75C,Silent,Silent,Missense_R18C,Missense_R18C,Missense_R18C,Missense_R18C,Silent,Silent exm880273 11 3838625 [G/C] NM_001256235,NM_001145438,NM_001256236,NR_045927,NR_045926,NR_045923,NR_045925,NM_001256237,NR_027017,NR_027018,NM_001256238,NM_001256239,NM_014489,NM_001256240,NR_045929,NR_027016 PGAP2,PGAP2,PGAP2,PGAP2,PGAP2,PGAP2,PGAP2,PGAP2,PGAP2,PGAP2,PGAP2,PGAP2,PGAP2,PGAP2,PGAP2,PGAP2 EXON Silent,Silent,Missense_D127H,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_D70H,Silent,Silent,Silent exm880288 11 3845245 [T/C] NM_001256235,NM_001145438,NM_001256236,NR_045927,NR_045926,NR_045923,NR_045925,NM_001256237,NR_027017,NR_027018,NM_001256238,NM_001256239,NM_014489,NM_001256240,NR_045929,NR_027016 PGAP2,PGAP2,PGAP2,PGAP2,PGAP2,PGAP2,PGAP2,PGAP2,PGAP2,PGAP2,PGAP2,PGAP2,PGAP2,PGAP2,PGAP2,PGAP2 EXON Missense_L118F,Missense_L157F,Missense_L218F,Silent,Silent,Silent,Silent,Missense_L157F,Silent,Silent,Missense_L100F,Missense_L100F,Missense_L161F,Missense_L100F,Silent,Silent exm880293 11 3845308 [A/G] NM_001256235,NM_001145438,NM_001256236,NR_045927,NR_045926,NR_045923,NR_045925,NM_001256237,NR_027017,NR_027018,NM_001256238,NM_001256239,NM_014489,NM_001256240,NR_045929,NR_027016 PGAP2,PGAP2,PGAP2,PGAP2,PGAP2,PGAP2,PGAP2,PGAP2,PGAP2,PGAP2,PGAP2,PGAP2,PGAP2,PGAP2,PGAP2,PGAP2 EXON Missense_V139I,Missense_V178I,Missense_V239I,Silent,Silent,Silent,Silent,Missense_V178I,Silent,Silent,Missense_V121I,Missense_V121I,Missense_V182I,Missense_V121I,Silent,Silent exm880307 11 3846253 [T/C] NM_001256235,NM_001145438,NM_001256236,NR_045927,NR_045926,NR_045923,NR_045925,NM_001256237,NR_027017,NR_027018,NM_001256238,NM_001256239,NM_014489,NM_001256240,NR_045929,NR_027016 PGAP2,PGAP2,PGAP2,PGAP2,PGAP2,PGAP2,PGAP2,PGAP2,PGAP2,PGAP2,PGAP2,PGAP2,PGAP2,PGAP2,PGAP2,PGAP2 EXON Missense_R195C,Missense_R230C,Missense_R295C,Silent,Silent,Silent,Silent,Missense_S260L,Silent,Silent,Missense_S201L,Missense_R173C,Missense_R238C,Missense_R177C,Silent,Silent exm880322 11 3848846 [A/C] NM_001665 RHOG EXON Missense_A175S exm2249830 11 3849192 [T/C] NM_001665 RHOG EXON Synonymous_A59A exm880340 11 3849236 [T/C] NM_001665 RHOG EXON Missense_A45T exm1709312 11 4076757 [A/G] NM_003156 STIM1 EXON Synonymous_V129V exm880357 11 4076778 [C/G] NM_003156 STIM1 EXON Missense_E136D exm880359 11 4076828 [T/C] NM_003156 STIM1 EXON Missense_T153I exm880394 11 4104609 [G/C] NM_003156 STIM1 EXON Missense_A452G exm880408 11 4107743 [T/C] NM_003156 STIM1 EXON Missense_T504M exm880414 11 4112541 [T/C] NM_003156 STIM1 EXON Missense_S524F exm880417 11 4112577 [A/G] NM_003156 STIM1 EXON Missense_K536R exm880418 11 4112582 [T/C] NM_003156 STIM1 EXON Missense_P538S exm1709394 11 4112732 [T/C] NM_003156 STIM1 EXON Missense_H588Y exm880429 11 4112808 [A/C] NM_003156 STIM1 EXON Missense_S613Y exm880434 11 4112930 [A/G] NM_003156 STIM1 EXON Missense_A654T exm880438 11 4113021 [A/G] NM_003156 STIM1 EXON Missense_K684R exm880461 11 4132858 [T/A] NM_001033 RRM1 EXON Missense_I159F exm1709431 11 4147992 [T/G] NM_001033 RRM1 EXON Missense_A467S exm880490 11 4148284 [A/G] NM_001033 RRM1 EXON Missense_R497H exm880494 11 4148356 [A/G] NM_001033 RRM1 EXON Missense_S521N exm880500 11 4150358 [A/G] NM_001033 RRM1 EXON Missense_V583I exm880501 11 4150379 [A/C] NM_001033 RRM1 EXON Missense_K590Q exm880532 11 4388716 [A/C] NM_001005161 OR52B4 EXON Missense_I270M exm1709716 11 4388792 [A/G] NM_001005161 OR52B4 EXON Missense_S245F exm880540 11 4388820 [A/G] NM_001005161 OR52B4 EXON Missense_C236R exm880541 11 4388879 [A/G] NM_001005161 OR52B4 EXON Missense_I216T exm880547 11 4388942 [T/C] NM_001005161 OR52B4 EXON Missense_R195Q exm880550 11 4389012 [A/G] NM_001005161 OR52B4 EXON Nonsense_Q172X exm880554 11 4389110 [A/G] NM_001005161 OR52B4 EXON Missense_T139I exm880557 11 4389233 [T/C] NM_001005161 OR52B4 EXON Missense_R98H exm880559 11 4389257 [T/C] NM_001005161 OR52B4 EXON Missense_R90H exm880569 11 4389363 [A/G] NM_001005161 OR52B4 EXON Missense_R55C exm880580 11 4406580 [T/C] NM_003141 TRIM21 EXON Missense_K455E exm880592 11 4406852 [T/C] NM_003141 TRIM21 EXON Missense_R364H exm880605 11 4407432 [T/C] NM_003141 TRIM21 EXON Missense_V272M exm2274454 11 4409718 [G/C] NM_003141 TRIM21 EXON Missense_V183L exm880628 11 4411287 [T/C] NM_003141 TRIM21 EXON Missense_R118Q exm880631 11 4411378 [T/G] NM_003141 TRIM21 EXON Missense_Q88K exm880636 11 4411471 [A/G] NM_003141 TRIM21 EXON Missense_R57C exm880638 11 4411492 [T/C] NM_003141 TRIM21 EXON Missense_V50I exm880639 11 4411501 [G/C] NM_003141 TRIM21 EXON Missense_G47R exm880641 11 4411527 [T/C] NM_003141 TRIM21 EXON Missense_E38G exm880645 11 4411623 [T/C] NM_003141 TRIM21 EXON Missense_R6H exm880651 11 4470622 [A/G] NM_001005172 OR52K2 EXON Missense_G18E exm880654 11 4470651 [A/T] NM_001005172 OR52K2 EXON Missense_W28R exm880687 11 4471083 [T/C] NM_001005172 OR52K2 EXON Nonsense_R172X exm880692 11 4471146 [A/G] NM_001005172 OR52K2 EXON Missense_D193N exm880697 11 4471243 [A/C] NM_001005172 OR52K2 EXON Missense_Q225P exm880702 11 4471276 [A/G] NM_001005172 OR52K2 EXON Missense_R236H exm1709965 11 4471294 [T/C] NM_001005172 OR52K2 EXON Missense_T242I exm880705 11 4471306 [T/A] NM_001005172 OR52K2 EXON Missense_H246L exm880708 11 4471335 [A/C] NM_001005172 OR52K2 EXON Missense_T256P exm880710 11 4471393 [T/A] NM_001005172 OR52K2 EXON Missense_H275L exm880712 11 4471445 [A/G] NM_001005172 OR52K2 EXON Missense_I292M exm880713 11 4471469 [A/C] NM_001005172 OR52K2 EXON Missense_Q300H exm880714 11 4471473 [T/C] NM_001005172 OR52K2 EXON Missense_R302C exm880725 11 4510186 [T/G] NM_001005171 OR52K1 EXON Missense_I19S exm880726 11 4510204 [T/C] NM_001005171 OR52K1 EXON Missense_L25P exm880729 11 4510258 [G/C] NM_001005171 OR52K1 EXON Missense_G43A exm880731 11 4510285 [A/G] NM_001005171 OR52K1 EXON Missense_Q52R exm880734 11 4510327 [T/C] NM_001005171 OR52K1 EXON Missense_A66V exm880773 11 4510827 [T/C] NM_001005171 OR52K1 EXON Nonsense_Q233X exm880786 11 4511034 [T/C] NM_001005171 OR52K1 EXON Missense_R302C exm880791 11 4566421 [A/G] NM_001004137 OR52M1 EXON Missense_M1V exm880792 11 4566446 [T/C] NM_001004137 OR52M1 EXON Missense_S9L exm880799 11 4566515 [A/C] NM_001004137 OR52M1 EXON Missense_P32H exm880804 11 4566621 [A/G] NM_001004137 OR52M1 EXON Missense_M67I exm880805 11 4566655 [A/C] NM_001004137 OR52M1 EXON Missense_T79P exm880809 11 4566684 [A/G] NM_001004137 OR52M1 EXON Nonsense_W88X exm880811 11 4566688 [A/G] NM_001004137 OR52M1 EXON Missense_G90S exm2218594 11 4566740 [A/G] NM_001004137 OR52M1 EXON Missense_H107R exm880815 11 4566768 [G/C] NM_001004137 OR52M1 EXON Missense_I116M exm880817 11 4566790 [T/C] NM_001004137 OR52M1 EXON Missense_R124C exm880818 11 4566791 [A/G] NM_001004137 OR52M1 EXON Missense_R124H exm880819 11 4566796 [A/G] NM_001004137 OR52M1 EXON Missense_V126M exm880821 11 4566811 [T/C] NM_001004137 OR52M1 EXON Missense_P131S exm880829 11 4566878 [A/G] NM_001004137 OR52M1 EXON Missense_R153Q exm880835 11 4566929 [T/C] NM_001004137 OR52M1 EXON Missense_P170L exm880847 11 4567055 [T/C] NM_001004137 OR52M1 EXON Missense_L212P exm880853 11 4567107 [A/G] NM_001004137 OR52M1 EXON Missense_M229I exm880856 11 4567130 [A/G] NM_001004137 OR52M1 EXON Missense_R237K exm880859 11 4567150 [T/C] NM_001004137 OR52M1 EXON Missense_C244R exm880865 11 4567193 [T/C] NM_001004137 OR52M1 EXON Missense_I258T exm880869 11 4567259 [G/C] NM_001004137 OR52M1 EXON Missense_A280G exm880872 11 4567313 [A/G] NM_001004137 OR52M1 EXON Missense_R298H exm880873 11 4567335 [G/C] NM_001004137 OR52M1 EXON Missense_S305R exm880879 11 4592670 [A/C] NM_144663 C11orf40 EXON Missense_L213V exm880884 11 4592718 [A/C] NM_144663 C11orf40 EXON Missense_G197W exm2249874 11 4592752 [T/C] NM_144663 C11orf40 EXON Synonymous_E185E exm1710831 11 4592780 [A/C] NM_144663 C11orf40 EXON Missense_R176L exm880891 11 4592790 [A/C] NM_144663 C11orf40 EXON Nonsense_E173X exm880902 11 4593411 [A/G] NM_144663 C11orf40 EXON Missense_T141M exm880906 11 4593442 [A/G] NM_144663 C11orf40 EXON Nonsense_Q131X exm1710890 11 4594535 [C/G] NM_144663 C11orf40 Silent exm880930 11 4594703 [T/C] NM_144663 C11orf40 Silent exm880943 11 4608061 [T/C] NM_001005170 OR52I2 EXON Missense_R7W exm880945 11 4608116 [T/C] NM_001005170 OR52I2 EXON Missense_L25P exm880946 11 4608130 [A/C] NM_001005170 OR52I2 EXON Missense_P30T exm880960 11 4608359 [T/C] NM_001005170 OR52I2 EXON Missense_S106L exm880987 11 4608745 [T/C] NM_001005170 OR52I2 EXON Missense_L235F exm881036 11 4615767 [A/G] NM_001005169 OR52I1 EXON Missense_M167V exm881040 11 4615779 [A/C] NM_001005169 OR52I1 EXON Missense_P171T exm881042 11 4615815 [T/C] NM_001005169 OR52I1 EXON Missense_C183R exm881056 11 4615926 [A/G] NM_001005169 OR52I1 EXON Missense_A220T exm881058 11 4615987 [A/C] NM_001005169 OR52I1 EXON Missense_K240T exm881076 11 4621594 [T/C] NM_018073 TRIM68 EXON Missense_R457H exm881083 11 4621639 [T/C] NM_018073 TRIM68 EXON Missense_C442Y exm881086 11 4621681 [T/G] NM_018073 TRIM68 EXON Missense_D428A exm881099 11 4621994 [A/G] NM_018073 TRIM68 EXON Missense_R324C exm881100 11 4622012 [T/C] NM_018073 TRIM68 EXON Missense_V318M exm881107 11 4622323 [T/C] NM_018073 TRIM68 EXON Missense_I281V exm881109 11 4622343 [T/C] NM_018073 TRIM68 EXON Missense_S274N exm881120 11 4623513 [A/G] NM_018073 TRIM68 EXON Missense_R218W exm881123 11 4623587 [T/C] NM_018073 TRIM68 EXON Missense_R193Q exm881149 11 4626617 [A/G] NM_018073 TRIM68 EXON Missense_L40F exm2264413 11 4639292 [A/C] exm881159 11 4661190 [C/G] NM_001004751 OR51D1 EXON Missense_T57S exm881163 11 4661243 [T/C] NM_001004751 OR51D1 EXON Missense_F75L exm881165 11 4661280 [T/C] NM_001004751 OR51D1 EXON Missense_S87F exm881166 11 4661285 [A/G] NM_001004751 OR51D1 EXON Missense_I89V exm881167 11 4661298 [A/C] NM_001004751 OR51D1 EXON Missense_K93T exm881169 11 4661328 [A/G] NM_001004751 OR51D1 EXON Missense_Q103R exm2249879 11 4661351 [T/C] NM_001004751 OR51D1 EXON Synonymous_L111L exm881174 11 4661373 [A/C] NM_001004751 OR51D1 EXON Missense_H118P exm881176 11 4661424 [A/G] NM_001004751 OR51D1 EXON Missense_R135H exm881178 11 4661451 [A/G] NM_001004751 OR51D1 EXON Missense_R144H exm881179 11 4661457 [T/C] NM_001004751 OR51D1 EXON Missense_A146V exm881184 11 4661514 [T/G] NM_001004751 OR51D1 EXON Missense_G165V exm881188 11 4661568 [A/G] NM_001004751 OR51D1 EXON Missense_Q183R exm881202 11 4661819 [A/C] NM_001004751 OR51D1 EXON Missense_P267T exm881203 11 4661826 [T/C] NM_001004751 OR51D1 EXON Missense_I269T exm881212 11 4661919 [A/G] NM_001004751 OR51D1 EXON Missense_N300S exm881219 11 4673788 [A/G] NM_152430 OR51E1 EXON Missense_S11N exm881220 11 4673794 [T/C] NM_152430 OR51E1 EXON Missense_T13I exm881227 11 4673974 [A/G] NM_152430 OR51E1 EXON Missense_D73G exm881228 11 4674016 [T/G] NM_152430 OR51E1 EXON Missense_I87S exm881231 11 4674129 [T/C] NM_152430 OR51E1 EXON Missense_R125C exm881235 11 4674273 [T/C] NM_152430 OR51E1 EXON Missense_R173C exm881237 11 4674282 [A/G] NM_152430 OR51E1 EXON Missense_I176V exm881239 11 4674336 [A/G] NM_152430 OR51E1 EXON Missense_D194N exm881240 11 4674343 [A/G] NM_152430 OR51E1 EXON Missense_R196Q exm881242 11 4674369 [A/G] NM_152430 OR51E1 EXON Missense_V205I exm881248 11 4674486 [A/G] NM_152430 OR51E1 EXON Missense_V244I exm881251 11 4674561 [T/C] NM_152430 OR51E1 EXON Missense_R269W exm881252 11 4674562 [A/G] NM_152430 OR51E1 EXON Missense_R269Q exm881256 11 4674582 [A/G] NM_152430 OR51E1 EXON Missense_V276I exm881260 11 4674652 [A/G] NM_152430 OR51E1 EXON Missense_K299R exm881261 11 4674661 [A/G] NM_152430 OR51E1 EXON Missense_R302Q exm881270 11 4703064 [A/G] NM_030774 OR51E2 EXON Missense_A293V exm881272 11 4703122 [G/C] NM_030774 OR51E2 EXON Missense_V274L exm881273 11 4703127 [T/C] NM_030774 OR51E2 EXON Missense_R272H exm881282 11 4703274 [A/G] NM_030774 OR51E2 EXON Missense_T223M exm881285 11 4703314 [T/C] NM_030774 OR51E2 EXON Missense_V210I exm881308 11 4703658 [T/G] NM_030774 OR51E2 EXON Missense_A95D exm881309 11 4703676 [T/C] NM_030774 OR51E2 EXON Missense_R89Q exm881316 11 4703776 [A/C] NM_030774 OR51E2 EXON Missense_A56S exm881319 11 4703812 [T/C] NM_030774 OR51E2 EXON Missense_V44M exm881320 11 4703848 [A/G] NM_030774 OR51E2 EXON Missense_S32P exm881325 11 4790214 [T/C] NM_001004752 OR51F1 EXON Missense_K312E exm881327 11 4790268 [A/C] NM_001004752 OR51F1 EXON Missense_D294Y exm881334 11 4790346 [A/G] NM_001004752 OR51F1 EXON Missense_R268W exm881337 11 4790378 [T/A] NM_001004752 OR51F1 EXON Missense_M257K exm881338 11 4790396 [A/G] NM_001004752 OR51F1 EXON Missense_A251V exm881341 11 4790471 [A/G] NM_001004752 OR51F1 EXON Missense_S226F exm881344 11 4790475 [A/G] NM_001004752 OR51F1 EXON Missense_H225Y exm881352 11 4790561 [A/G] NM_001004752 OR51F1 EXON Missense_A196V exm881353 11 4790564 [T/C] NM_001004752 OR51F1 EXON Missense_R195Q exm2274455 11 4790565 [A/G] NM_001004752 OR51F1 EXON Missense_R195W exm881359 11 4790682 [T/C] NM_001004752 OR51F1 EXON Missense_V156I exm2274456 11 4790690 [A/C] NM_001004752 OR51F1 EXON Missense_R153L exm1712456 11 4790921 [A/G] NM_001004752 OR51F1 EXON Missense_T76I exm881376 11 4790948 [A/C] NM_001004752 OR51F1 EXON Missense_R67M exm881377 11 4790951 [A/G] NM_001004752 OR51F1 EXON Missense_F66S exm881381 11 4791012 [T/C] NM_001004752 OR51F1 EXON Missense_V46M exm881387 11 4791111 [T/C] NM_001004752 OR51F1 EXON Missense_T13A exm881401 11 4824752 [T/G] NM_001005177 OR52R1 EXON Missense_P287T exm881402 11 4824763 [A/T] NM_001005177 OR52R1 EXON Missense_Y283F exm881404 11 4824794 [C/G] NM_001005177 OR52R1 EXON Missense_R273G exm881405 11 4824803 [T/C] NM_001005177 OR52R1 EXON Missense_D270N exm881406 11 4824847 [T/C] NM_001005177 OR52R1 EXON Missense_Y255C exm881411 11 4824895 [T/A] NM_001005177 OR52R1 EXON Missense_K239I exm881412 11 4824901 [T/C] NM_001005177 OR52R1 EXON Missense_R237H exm881413 11 4824947 [T/C] NM_001005177 OR52R1 EXON Missense_V222M exm881417 11 4825010 [A/T] NM_001005177 OR52R1 EXON Missense_N201Y exm881418 11 4825022 [T/C] NM_001005177 OR52R1 EXON Missense_I197V exm881425 11 4825211 [A/G] NM_001005177 OR52R1 EXON Nonsense_R134X exm881426 11 4825225 [A/G] NM_001005177 OR52R1 EXON Missense_I129T exm881432 11 4825349 [A/G] NM_001005177 OR52R1 EXON Missense_F88L exm881433 11 4825385 [A/G] NM_001005177 OR52R1 EXON Missense_L76F exm881435 11 4825421 [A/G] NM_001005177 OR52R1 EXON Missense_L64F exm881436 11 4825426 [A/G] NM_001005177 OR52R1 EXON Missense_M62T exm881437 11 4825433 [T/C] NM_001005177 OR52R1 EXON Missense_E60K exm881445 11 4825530 [C/G] NM_001005177 OR52R1 EXON Missense_Q27H exm881462 11 4842656 [T/C] NM_001004753 OR51F2 EXON Missense_S14L exm881464 11 4842772 [A/G] NM_001004753 OR51F2 EXON Missense_V53I exm881470 11 4842839 [A/G] NM_001004753 OR51F2 EXON Missense_Y75C exm881473 11 4842862 [A/G] NM_001004753 OR51F2 EXON Missense_T83A exm881474 11 4842866 [A/G] NM_001004753 OR51F2 EXON Missense_D84G exm881479 11 4842926 [A/G] NM_001004753 OR51F2 EXON Missense_R104Q exm881481 11 4842997 [G/C] NM_001004753 OR51F2 EXON Missense_V128L exm881482 11 4843022 [A/G] NM_001004753 OR51F2 EXON Missense_R136H exm881484 11 4843057 [A/G] NM_001004753 OR51F2 EXON Missense_T148A exm881488 11 4843120 [A/G] NM_001004753 OR51F2 EXON Missense_V169I exm1712719 11 4843399 [G/C] NM_001004753 OR51F2 EXON Missense_V262L exm881501 11 4843445 [A/G] NM_001004753 OR51F2 EXON Missense_R277H exm881506 11 4843595 [A/G] NM_001004753 OR51F2 EXON Missense_K327R exm881511 11 4869582 [A/C] NM_001004758 OR51S1 EXON Missense_V286G exm2218688 11 4869642 [A/G] NM_001004758 OR51S1 EXON Missense_A266V exm881514 11 4869649 [A/G] NM_001004758 OR51S1 EXON Missense_L264F exm881515 11 4869658 [T/G] NM_001004758 OR51S1 EXON Missense_P261T exm881517 11 4869718 [G/C] NM_001004758 OR51S1 EXON Missense_R241G exm881519 11 4869765 [T/C] NM_001004758 OR51S1 EXON Missense_Y225C exm881520 11 4869792 [A/G] NM_001004758 OR51S1 EXON Missense_L216S exm1712756 11 4869882 [T/C] NM_001004758 OR51S1 EXON Missense_Y186C exm881528 11 4869906 [A/C] NM_001004758 OR51S1 EXON Missense_L178R exm881531 11 4869964 [A/G] NM_001004758 OR51S1 EXON Nonsense_R159X exm881537 11 4870051 [A/G] NM_001004758 OR51S1 EXON Missense_R130W exm881540 11 4870070 [A/C] NM_001004758 OR51S1 EXON Missense_L123F exm881545 11 4870138 [A/G] NM_001004758 OR51S1 EXON Missense_P101S exm881548 11 4870162 [T/C] NM_001004758 OR51S1 EXON Missense_A93T exm881553 11 4870261 [C/G] NM_001004758 OR51S1 EXON Missense_Q60E exm881554 11 4870269 [T/A] NM_001004758 OR51S1 EXON Missense_I57N exm881555 11 4870284 [G/C] NM_001004758 OR51S1 EXON Missense_T52S exm881584 11 4903224 [T/C] NM_001004759 OR51T1 EXON Missense_P59L exm881594 11 4903500 [A/G] NM_001004759 OR51T1 EXON Missense_R151H exm881608 11 4903766 [A/G] NM_001004759 OR51T1 EXON Missense_V240I exm881610 11 4903803 [A/G] NM_001004759 OR51T1 EXON Missense_R252H exm881617 11 4903891 [A/T] NM_001004759 OR51T1 EXON Nonsense_Y281X exm881625 11 4904034 [A/G] NM_001004759 OR51T1 EXON Missense_R329H exm881628 11 4904082 [A/G] NM_001004759 OR51T1 EXON Missense_N345S exm881631 11 4928621 [A/G] NM_001004749 OR51A7 EXON Missense_E8K exm881633 11 4928691 [T/C] NM_001004749 OR51A7 EXON Missense_I31T exm881634 11 4928719 [A/G] NM_001004749 OR51A7 EXON Missense_M40I exm881637 11 4928746 [A/G] NM_001004749 OR51A7 EXON Missense_I49M exm881640 11 4928841 [T/C] NM_001004749 OR51A7 EXON Missense_M81T exm881644 11 4928908 [A/C] NM_001004749 OR51A7 EXON Missense_F103L exm881650 11 4929060 [T/C] NM_001004749 OR51A7 EXON Missense_L154P exm881658 11 4929186 [T/C] NM_001004749 OR51A7 EXON Missense_V196A exm881662 11 4929278 [A/C] NM_001004749 OR51A7 EXON Missense_I227L exm881663 11 4929285 [A/C] NM_001004749 OR51A7 EXON Missense_S229Y exm881686 11 4935975 [A/G] NM_001005238 OR51G2 EXON Nonsense_R307X exm881693 11 4936092 [A/G] NM_001005238 OR51G2 EXON Missense_R268C exm1712878 11 4936097 [T/A] NM_001005238 OR51G2 EXON Missense_I266N exm881695 11 4936164 [T/C] NM_001005238 OR51G2 EXON Missense_N244D exm881699 11 4936212 [A/G] NM_001005238 OR51G2 EXON Missense_R228C exm881702 11 4936284 [T/C] NM_001005238 OR51G2 EXON Missense_G204S exm881704 11 4936305 [T/G] NM_001005238 OR51G2 EXON Missense_M197L exm881706 11 4936344 [A/G] NM_001005238 OR51G2 EXON Missense_C184R exm881708 11 4936376 [T/C] NM_001005238 OR51G2 EXON Missense_Y173C exm881709 11 4936401 [A/G] NM_001005238 OR51G2 EXON Missense_P165S exm881718 11 4936577 [A/T] NM_001005238 OR51G2 EXON Missense_L106H exm881720 11 4936608 [C/G] NM_001005238 OR51G2 EXON Missense_E96Q exm881722 11 4936613 [T/G] NM_001005238 OR51G2 EXON Missense_A94E exm881723 11 4936703 [A/G] NM_001005238 OR51G2 EXON Missense_M64T exm881726 11 4936721 [T/C] NM_001005238 OR51G2 EXON Missense_R58H exm881728 11 4936737 [T/C] NM_001005238 OR51G2 EXON Missense_I53V exm881730 11 4936775 [T/C] NM_001005238 OR51G2 EXON Missense_Y40C exm1712889 11 4944620 [T/C] NM_001005237 OR51G1 EXON Missense_C317Y exm881737 11 4944650 [T/C] NM_001005237 OR51G1 EXON Missense_K307R exm881738 11 4944661 [G/C] NM_001005237 OR51G1 EXON Missense_Q303H exm881739 11 4944666 [A/G] NM_001005237 OR51G1 EXON Missense_R302C exm881744 11 4944728 [A/G] NM_001005237 OR51G1 EXON Missense_V281A exm1712893 11 4944755 [T/C] NM_001005237 OR51G1 EXON Missense_R272H exm881747 11 4944776 [T/C] NM_001005237 OR51G1 EXON Missense_R265H exm881750 11 4944794 [A/C] NM_001005237 OR51G1 EXON Missense_G259V exm881751 11 4944799 [T/C] NM_001005237 OR51G1 EXON Missense_M257I exm881754 11 4944863 [T/C] NM_001005237 OR51G1 EXON Missense_R236Q exm881755 11 4944864 [A/G] NM_001005237 OR51G1 EXON Nonsense_R236X exm881757 11 4944896 [T/C] NM_001005237 OR51G1 EXON Missense_R225H exm881758 11 4944897 [A/G] NM_001005237 OR51G1 EXON Missense_R225C exm881764 11 4944976 [T/G] NM_001005237 OR51G1 EXON Missense_H198Q exm881765 11 4944986 [A/G] NM_001005237 OR51G1 EXON Missense_I195T exm881773 11 4945161 [T/C] NM_001005237 OR51G1 EXON Missense_V137I exm1712894 11 4945191 [T/C] NM_001005237 OR51G1 EXON Missense_A127T exm881775 11 4945196 [T/G] NM_001005237 OR51G1 EXON Missense_Y125S exm881776 11 4945199 [T/C] NM_001005237 OR51G1 EXON Missense_R124H exm881778 11 4945229 [A/G] NM_001005237 OR51G1 EXON Missense_S114L exm881780 11 4945236 [T/C] NM_001005237 OR51G1 EXON Missense_M112V exm881781 11 4945266 [A/G] NM_001005237 OR51G1 EXON Nonsense_Q102X exm881793 11 4945452 [T/C] NM_001005237 OR51G1 EXON Missense_V40I exm881799 11 4945539 [T/C] NM_001005237 OR51G1 EXON Missense_R11G exm1712911 11 4967514 [T/C] NM_001005329 OR51A4 EXON Missense_I273V exm881826 11 4967771 [A/G] NM_001005329 OR51A4 EXON Missense_M187T exm881863 11 4976120 [A/G] NM_001004748 OR51A2 EXON Missense_V275A exm881883 11 4976431 [T/G] NM_001004748 OR51A2 EXON Nonsense_C171X exm881914 11 5010905 [A/G] NM_021801 MMP26 EXON Missense_K43E exm881915 11 5010915 [T/C] NM_021801 MMP26 EXON Missense_S46L exm881929 11 5011910 [A/T] NM_021801 MMP26 EXON Missense_T135S exm881938 11 5012646 [A/G] NM_021801 MMP26 EXON Missense_G172D exm881950 11 5013466 [A/G] NM_021801 MMP26 EXON Missense_I260M exm881955 11 5020241 [T/C] NM_001004755 OR51L1 EXON Missense_V10A exm881956 11 5020255 [A/T] NM_001004755 OR51L1 EXON Missense_I15F exm881966 11 5020476 [A/G] NM_001004755 OR51L1 EXON Nonsense_W88X exm1713227 11 5020511 [A/G] NM_001004755 OR51L1 EXON Missense_Y100C exm881969 11 5020528 [A/C] NM_001004755 OR51L1 EXON Missense_I106L exm881971 11 5020543 [T/C] NM_001004755 OR51L1 EXON Missense_F111L exm881984 11 5020747 [T/G] NM_001004755 OR51L1 EXON Missense_A179S exm881985 11 5020771 [A/C] NM_001004755 OR51L1 EXON Missense_L187I exm881988 11 5020799 [T/C] NM_001004755 OR51L1 EXON Missense_T196I exm881990 11 5020832 [T/C] NM_001004755 OR51L1 EXON Missense_A207V exm881991 11 5020846 [A/G] NM_001004755 OR51L1 EXON Missense_D212N exm881995 11 5020876 [C/G] NM_001004755 OR51L1 EXON Missense_L222V exm881997 11 5020933 [T/A] NM_001004755 OR51L1 EXON Missense_N241Y exm881999 11 5020948 [T/C] NM_001004755 OR51L1 EXON Missense_H246Y exm882005 11 5021055 [C/G] NM_001004755 OR51L1 EXON Missense_I281M exm882008 11 5021116 [T/C] NM_001004755 OR51L1 EXON Missense_R302C exm882009 11 5021117 [G/C] NM_001004755 OR51L1 EXON Missense_R302P exm1713537 11 5067816 [C/G] NM_001001916 OR52J3 EXON Missense_G21R exm882011 11 5067817 [A/G] NM_001001916 OR52J3 EXON Missense_G21D exm882012 11 5067836 [C/G] NM_001001916 OR52J3 EXON Missense_M27I exm1713538 11 5067849 [A/C] NM_001001916 OR52J3 EXON Missense_P32T exm882013 11 5067871 [T/C] NM_001001916 OR52J3 EXON Missense_V39A exm882015 11 5067894 [A/G] NM_001001916 OR52J3 EXON Missense_I47V exm882017 11 5067928 [A/G] NM_001001916 OR52J3 EXON Missense_R58Q exm882018 11 5067931 [A/G] NM_001001916 OR52J3 EXON Missense_E59G exm882030 11 5068137 [A/G] NM_001001916 OR52J3 EXON Missense_V128I exm882035 11 5068177 [T/A] NM_001001916 OR52J3 EXON Missense_Q141L exm882036 11 5068216 [T/C] NM_001001916 OR52J3 EXON Missense_P154L exm882038 11 5068239 [A/G] NM_001001916 OR52J3 EXON Missense_V162I exm882039 11 5068261 [T/C] NM_001001916 OR52J3 EXON Missense_P169L exm882042 11 5068297 [A/G] NM_001001916 OR52J3 EXON Missense_C181Y exm2218718 11 5068309 [A/G] NM_001001916 OR52J3 EXON Missense_G185D exm882043 11 5068336 [A/T] NM_001001916 OR52J3 EXON Missense_I194N exm882045 11 5068388 [A/C] NM_001001916 OR52J3 EXON Missense_N211K exm882046 11 5068402 [A/G] NM_001001916 OR52J3 EXON Missense_G216D exm882049 11 5068425 [T/C] NM_001001916 OR52J3 EXON Missense_R224C exm882051 11 5068431 [A/G] NM_001001916 OR52J3 EXON Missense_V226I exm882052 11 5068437 [T/C] NM_001001916 OR52J3 EXON Missense_R228C exm882059 11 5068567 [G/C] NM_001001916 OR52J3 EXON Missense_G271A exm2218719 11 5068573 [T/C] NM_001001916 OR52J3 EXON Missense_I273T exm882065 11 5068662 [T/C] NM_001001916 OR52J3 EXON Nonsense_R303X exm882078 11 5080059 [A/G] NM_001005164 OR52E2 EXON Nonsense_R267X exm882089 11 5080175 [T/C] NM_001005164 OR52E2 EXON Missense_R228H exm882090 11 5080181 [A/G] NM_001005164 OR52E2 EXON Missense_V226A exm882092 11 5080296 [A/G] NM_001005164 OR52E2 EXON Missense_H188Y exm882093 11 5080337 [T/C] NM_001005164 OR52E2 EXON Missense_H174R exm882094 11 5080359 [A/G] NM_001005164 OR52E2 EXON Missense_R167W exm882096 11 5080399 [A/C] NM_001005164 OR52E2 EXON Missense_R153S exm882097 11 5080406 [A/G] NM_001005164 OR52E2 EXON Missense_F151S exm882102 11 5080523 [A/G] NM_001005164 OR52E2 EXON Missense_M112T exm882104 11 5080554 [A/G] NM_001005164 OR52E2 EXON Nonsense_Q102X exm882105 11 5080565 [G/C] NM_001005164 OR52E2 EXON Missense_A98G exm882111 11 5080652 [A/G] NM_001005164 OR52E2 EXON Missense_A69V exm882112 11 5080653 [T/C] NM_001005164 OR52E2 EXON Missense_A69T exm1713607 11 5080661 [T/G] NM_001005164 OR52E2 EXON Missense_A66D exm882114 11 5080733 [A/G] NM_001005164 OR52E2 EXON Missense_I42T exm882115 11 5080770 [T/C] NM_001005164 OR52E2 EXON Missense_G30S exm882122 11 5080844 [T/C] NM_001005164 OR52E2 EXON Missense_N5S exm882172 11 5152957 [T/C] NM_001005160 OR52A5 EXON Missense_I306V exm882178 11 5153053 [A/G] NM_001005160 OR52A5 EXON Missense_Y274H exm882180 11 5153158 [T/C] NM_001005160 OR52A5 EXON Missense_K239E exm882182 11 5153175 [T/C] NM_001005160 OR52A5 EXON Missense_Q233R exm882187 11 5153314 [T/C] NM_001005160 OR52A5 EXON Missense_I187V exm882188 11 5153319 [A/C] NM_001005160 OR52A5 EXON Missense_M185R exm1714313 11 5153329 [A/G] NM_001005160 OR52A5 EXON Missense_C182R exm882189 11 5153356 [A/G] NM_001005160 OR52A5 EXON Nonsense_R173X exm882192 11 5153400 [A/G] NM_001005160 OR52A5 EXON Missense_I158T exm882196 11 5153473 [A/G] NM_001005160 OR52A5 EXON Missense_H134Y exm882198 11 5153499 [T/C] NM_001005160 OR52A5 EXON Missense_Y125C exm1714320 11 5153564 [A/C] NM_001005160 OR52A5 EXON Missense_M103I exm882210 11 5153800 [G/C] NM_001005160 OR52A5 EXON Missense_V25L exm882212 11 5153821 [T/C] NM_001005160 OR52A5 EXON Missense_G18R exm882215 11 5153868 [A/G] NM_001005160 OR52A5 EXON Missense_P2L exm882217 11 5172693 [A/G] NM_012375 OR52A1 EXON Missense_R303C exm882221 11 5172807 [A/G] NM_012375 OR52A1 EXON Missense_H265Y exm882224 11 5172854 [T/C] NM_012375 OR52A1 EXON Missense_C249Y exm882228 11 5172993 [A/T] NM_012375 OR52A1 EXON Missense_L203M exm882229 11 5172996 [T/C] NM_012375 OR52A1 EXON Missense_G202S exm882234 11 5173079 [T/G] NM_012375 OR52A1 EXON Missense_T174K exm882235 11 5173097 [T/C] NM_012375 OR52A1 EXON Missense_R168Q exm882241 11 5173229 [T/C] NM_012375 OR52A1 EXON Missense_R124H exm882248 11 5173408 [G/C] NM_012375 OR52A1 EXON Missense_F64L exm1714398 11 5173413 [T/C] NM_012375 OR52A1 EXON Missense_I63V exm882256 11 5173538 [T/C] NM_012375 OR52A1 EXON Missense_G21D exm2271580 11 5193410 [T/C] exm882261 11 5221008 [A/C] NM_001004760 OR51V1 EXON Missense_I308S exm882272 11 5221132 [A/G] NM_001004760 OR51V1 EXON Missense_L267F exm882275 11 5221233 [A/G] NM_001004760 OR51V1 EXON Missense_S233L exm882279 11 5221308 [T/G] NM_001004760 OR51V1 EXON Missense_A208D exm882286 11 5221442 [T/G] NM_001004760 OR51V1 EXON Missense_F163L exm882287 11 5221449 [T/C] NM_001004760 OR51V1 EXON Missense_S161N exm882288 11 5221522 [T/C] NM_001004760 OR51V1 EXON Missense_N137D exm882289 11 5221533 [A/G] NM_001004760 OR51V1 EXON Missense_I133T exm882291 11 5221540 [A/G] NM_001004760 OR51V1 EXON Missense_R131W exm882294 11 5221644 [T/C] NM_001004760 OR51V1 EXON Missense_G96E exm882297 11 5221675 [T/G] NM_001004760 OR51V1 EXON Missense_T86P exm1714807 11 5221686 [T/A] NM_001004760 OR51V1 EXON Missense_M82K exm882301 11 5221698 [T/G] NM_001004760 OR51V1 EXON Missense_T78N exm882302 11 5221699 [T/C] NM_001004760 OR51V1 EXON Missense_T78A exm882304 11 5221746 [A/G] NM_001004760 OR51V1 EXON Missense_P62L exm882305 11 5221754 [C/G] NM_001004760 OR51V1 EXON Missense_W59C exm882311 11 5221825 [A/G] NM_001004760 OR51V1 EXON Missense_L36F exm882317 11 5221885 [T/G] NM_001004760 OR51V1 EXON Missense_S16R exm-rs11036238 11 5225635 [G/C] exm2249947 11 5236851 [T/C] exm882328 11 5246908 [C/G] NM_000518 HBB EXON Missense_E122Q exm882341 11 5247914 [T/C] NM_000518 HBB EXON Missense_G70S exm882348 11 5248029 [A/C] NM_000518 HBB EXON Missense_R31S exm882349 11 5248159 [T/C] NM_000518 HBB Silent exm882354 11 5248218 [T/C] NM_000518 HBB EXON Missense_V12I exm882365 11 5254228 [T/C] NM_000519 HBD EXON Missense_G137D exm882374 11 5255241 [T/C] NM_000519 HBD EXON Missense_V99M exm882380 11 5255582 [A/C] NM_000519 HBD EXON Missense_A28S exm882383 11 5255615 [C/G] NM_000519 HBD EXON Missense_G17R exm882384 11 5255625 [T/A] NM_000519 HBD EXON Missense_N13K exm882385 11 5255650 [A/G] NM_000519 HBD EXON Missense_T5I exm-rs2071348 11 5264146 [T/G] NR_001589 HBBP1 Silent exm882433 11 5290773 [T/C] NM_005330 HBE1 EXON Missense_I76V exm882438 11 5290851 [A/G] NM_005330 HBE1 EXON Missense_S50P exm1715435 11 5322249 [C/G] NM_033179 OR51B4 EXON Missense_A310P exm882451 11 5322299 [A/G] NM_033179 OR51B4 EXON Missense_T293I exm882454 11 5322327 [T/C] NM_033179 OR51B4 EXON Missense_V284M exm882456 11 5322358 [T/C] NM_033179 OR51B4 EXON Missense_M273I exm882457 11 5322414 [T/G] NM_033179 OR51B4 EXON Missense_L255M exm882463 11 5322500 [A/G] NM_033179 OR51B4 EXON Missense_A226V exm882466 11 5322557 [T/C] NM_033179 OR51B4 EXON Missense_D207G exm882470 11 5322606 [A/G] NM_033179 OR51B4 EXON Missense_F191L exm882475 11 5322624 [T/C] NM_033179 OR51B4 EXON Missense_A185T exm882476 11 5322660 [T/G] NM_033179 OR51B4 EXON Missense_H173N exm882478 11 5322671 [T/C] NM_033179 OR51B4 EXON Missense_R169H exm882479 11 5322672 [A/G] NM_033179 OR51B4 EXON Missense_R169C exm882480 11 5322674 [A/G] NM_033179 OR51B4 EXON Missense_S168F exm2218737 11 5322756 [T/C] NM_033179 OR51B4 EXON Missense_I141V exm882484 11 5322768 [C/G] NM_033179 OR51B4 EXON Missense_R137G exm882485 11 5322776 [A/G] NM_033179 OR51B4 EXON Missense_T134I exm882492 11 5322902 [T/C] NM_033179 OR51B4 EXON Missense_H92R exm882493 11 5322927 [T/G] NM_033179 OR51B4 EXON Missense_L84M exm882494 11 5322977 [A/G] NM_033179 OR51B4 EXON Missense_T67M exm882495 11 5322984 [T/C] NM_033179 OR51B4 EXON Missense_A65T exm1715443 11 5323003 [C/G] NM_033179 OR51B4 EXON Nonsense_Y58X exm882496 11 5323057 [A/C] NM_033179 OR51B4 EXON Missense_N40K exm882498 11 5323071 [T/C] NM_033179 OR51B4 EXON Missense_V36I exm882501 11 5323161 [T/C] NM_033179 OR51B4 EXON Missense_S6G exm882502 11 5323175 [A/G] NM_033179 OR51B4 EXON Missense_M1T exm882508 11 5344592 [A/C] NM_033180 OR51B2 EXON Missense_S312R exm882509 11 5344606 [A/G] NM_033180 OR51B2 EXON Missense_H308Y exm882513 11 5344656 [T/C] NM_033180 OR51B2 EXON Missense_S291N exm882514 11 5344681 [A/G] NM_033180 OR51B2 EXON Missense_P283S exm882521 11 5344812 [T/C] NM_033180 OR51B2 EXON Missense_C239Y exm882526 11 5344902 [C/G] NM_033180 OR51B2 EXON Missense_C209S exm882541 11 5345128 [A/G] NM_033180 OR51B2 EXON Missense_L134F exm882545 11 5345170 [A/G] NM_033180 OR51B2 EXON Missense_C120R exm882552 11 5345261 [A/C] NM_033180 OR51B2 EXON Missense_E89D exm882555 11 5345343 [A/G] NM_033180 OR51B2 EXON Missense_T62I exm882557 11 5345406 [A/C] NM_033180 OR51B2 EXON Missense_G41V exm1715565 11 5345516 [A/C] NM_033180 OR51B2 EXON Missense_N4K exm882564 11 5345524 [A/C] NM_033180 OR51B2 EXON Missense_W2G exm1715668 11 5364013 [T/C] NR_038321,NM_001005567 OR51B5,OR51B5 EXON Silent,Missense_V248I exm882576 11 5364030 [T/C] NR_038321,NM_001005567 OR51B5,OR51B5 EXON Silent,Missense_H242R exm882579 11 5364049 [C/G] NR_038321,NM_001005567 OR51B5,OR51B5 EXON Silent,Missense_L236V exm882583 11 5364097 [A/G] NR_038321,NM_001005567 OR51B5,OR51B5 EXON Silent,Missense_L220F exm882587 11 5364174 [T/C] NR_038321,NM_001005567 OR51B5,OR51B5 EXON Silent,Missense_R194Q exm882591 11 5364220 [A/G] NR_038321,NM_001005567 OR51B5,OR51B5 EXON Silent,Missense_H179Y exm882593 11 5364276 [A/G] NR_038321,NM_001005567 OR51B5,OR51B5 EXON Silent,Missense_P160L exm882594 11 5364277 [A/G] NR_038321,NM_001005567 OR51B5,OR51B5 EXON Silent,Missense_P160S exm882599 11 5364321 [C/G] NR_038321,NM_001005567 OR51B5,OR51B5 EXON Silent,Missense_G145A exm882601 11 5364343 [A/G] NR_038321,NM_001005567 OR51B5,OR51B5 EXON Silent,Nonsense_R138X exm882608 11 5364432 [A/G] NR_038321,NM_001005567 OR51B5,OR51B5 EXON Silent,Missense_L108P exm882610 11 5364450 [A/G] NR_038321,NM_001005567 OR51B5,OR51B5 EXON Silent,Missense_I102T exm882611 11 5364463 [A/G] NR_038321,NM_001005567 OR51B5,OR51B5 EXON Silent,Nonsense_Q98X exm882612 11 5364471 [G/C] NR_038321,NM_001005567 OR51B5,OR51B5 EXON Silent,Missense_C95S exm882615 11 5364493 [T/C] NR_038321,NM_001005567 OR51B5,OR51B5 EXON Silent,Missense_R88G exm882616 11 5364503 [A/C] NR_038321,NM_001005567 OR51B5,OR51B5 EXON Silent,Missense_W84C exm882617 11 5364522 [T/G] NR_038321,NM_001005567 OR51B5,OR51B5 EXON Silent,Missense_T78K exm1715682 11 5364561 [A/G] NR_038321,NM_001005567 OR51B5,OR51B5 EXON Silent,Missense_A65V exm882626 11 5364676 [T/C] NR_038321,NM_001005567 OR51B5,OR51B5 EXON Silent,Missense_V27I exm882634 11 5364742 [T/C] NR_038321,NM_001005567 OR51B5,OR51B5 EXON Silent,Missense_G5S exm882638 11 5372751 [A/C] NR_038321,NM_001005567,NM_001004750 OR51B5,OR51B5,OR51B6 EXON Silent,Silent,Missense_K5T exm882644 11 5372856 [A/G] NR_038321,NM_001005567,NM_001004750 OR51B5,OR51B5,OR51B6 EXON Silent,Silent,Missense_N40S exm882647 11 5372945 [A/G] NR_038321,NM_001005567,NM_001004750 OR51B5,OR51B5,OR51B6 EXON Silent,Silent,Missense_G70R exm882650 11 5373006 [T/C] NR_038321,NM_001005567,NM_001004750 OR51B5,OR51B5,OR51B6 EXON Silent,Silent,Missense_I90T exm882659 11 5373104 [A/G] NR_038321,NM_001005567,NM_001004750 OR51B5,OR51B5,OR51B6 EXON Silent,Silent,Missense_T123A exm882660 11 5373111 [A/G] NR_038321,NM_001005567,NM_001004750 OR51B5,OR51B5,OR51B6 EXON Silent,Silent,Missense_R125H exm882661 11 5373114 [A/G] NR_038321,NM_001005567,NM_001004750 OR51B5,OR51B5,OR51B6 EXON Silent,Silent,Missense_S126N exm882662 11 5373124 [A/C] NR_038321,NM_001005567,NM_001004750 OR51B5,OR51B5,OR51B6 EXON Silent,Silent,Missense_R129S exm882663 11 5373129 [T/C] NR_038321,NM_001005567,NM_001004750 OR51B5,OR51B5,OR51B6 EXON Silent,Silent,Missense_T131I exm882666 11 5373170 [C/G] NR_038321,NM_001005567,NM_001004750 OR51B5,OR51B5,OR51B6 EXON Silent,Silent,Missense_R145G exm882670 11 5373219 [T/A] NR_038321,NM_001005567,NM_001004750 OR51B5,OR51B5,OR51B6 EXON Silent,Silent,Missense_L161Q exm882672 11 5373242 [T/G] NR_038321,NM_001005567,NM_001004750 OR51B5,OR51B5,OR51B6 EXON Silent,Silent,Missense_S169A exm882673 11 5373251 [T/C] NR_038321,NM_001005567,NM_001004750 OR51B5,OR51B5,OR51B6 EXON Silent,Silent,Missense_L172F exm882674 11 5373309 [A/C] NR_038321,NM_001005567,NM_001004750 OR51B5,OR51B5,OR51B6 EXON Silent,Silent,Missense_T191N exm882675 11 5373311 [T/C] NR_038321,NM_001005567,NM_001004750 OR51B5,OR51B5,OR51B6 EXON Silent,Silent,Missense_F192L exm882678 11 5373347 [A/G] NR_038321,NM_001005567,NM_001004750 OR51B5,OR51B5,OR51B6 EXON Silent,Silent,Missense_M204V exm882681 11 5373425 [A/G] NR_038321,NM_001005567,NM_001004750 OR51B5,OR51B5,OR51B6 EXON Silent,Silent,Missense_G230R exm882682 11 5373453 [T/G] NR_038321,NM_001005567,NM_001004750 OR51B5,OR51B5,OR51B6 EXON Silent,Silent,Missense_C239F exm882685 11 5373519 [T/G] NR_038321,NM_001005567,NM_001004750 OR51B5,OR51B5,OR51B6 EXON Silent,Silent,Missense_R261M exm882686 11 5373531 [A/G] NR_038321,NM_001005567,NM_001004750 OR51B5,OR51B5,OR51B6 EXON Silent,Silent,Missense_H265R exm882689 11 5373562 [A/C] NR_038321,NM_001005567,NM_001004750 OR51B5,OR51B5,OR51B6 EXON Silent,Silent,Missense_S275R exm882690 11 5373575 [T/C] NR_038321,NM_001005567,NM_001004750 OR51B5,OR51B5,OR51B6 EXON Silent,Silent,Missense_L280F exm882692 11 5373644 [T/C] NR_038321,NM_001005567,NM_001004750 OR51B5,OR51B5,OR51B6 EXON Silent,Silent,Missense_R303C exm882694 11 5373652 [C/G] NR_038321,NM_001005567,NM_001004750 OR51B5,OR51B5,OR51B6 EXON Silent,Silent,Missense_F305L exm882701 11 5410676 [A/C] NR_038321,NM_001005567,NM_001004756 OR51B5,OR51B5,OR51M1 EXON Silent,Silent,Missense_N16K exm882714 11 5410810 [T/C] NR_038321,NM_001005567,NM_001004756 OR51B5,OR51B5,OR51M1 EXON Silent,Silent,Missense_I61T exm882719 11 5410894 [T/C] NR_038321,NM_001005567,NM_001004756 OR51B5,OR51B5,OR51M1 EXON Silent,Silent,Missense_T89M exm882720 11 5410912 [G/C] NR_038321,NM_001005567,NM_001004756 OR51B5,OR51B5,OR51M1 EXON Silent,Silent,Missense_G95A exm882722 11 5410934 [T/G] NR_038321,NM_001005567,NM_001004756 OR51B5,OR51B5,OR51M1 EXON Silent,Silent,Missense_H102Q exm882723 11 5410942 [A/G] NR_038321,NM_001005567,NM_001004756 OR51B5,OR51B5,OR51M1 EXON Silent,Silent,Missense_Y105C exm882724 11 5410956 [A/C] NR_038321,NM_001005567,NM_001004756 OR51B5,OR51B5,OR51M1 EXON Silent,Silent,Missense_Q110K exm882725 11 5410968 [T/C] NR_038321,NM_001005567,NM_001004756 OR51B5,OR51B5,OR51M1 EXON Silent,Silent,Missense_F114L exm882726 11 5411014 [T/C] NR_038321,NM_001005567,NM_001004756 OR51B5,OR51B5,OR51M1 EXON Silent,Silent,Missense_M129T exm882727 11 5411028 [T/C] NR_038321,NM_001005567,NM_001004756 OR51B5,OR51B5,OR51M1 EXON Silent,Silent,Missense_R134C exm882729 11 5411031 [T/C] NR_038321,NM_001005567,NM_001004756 OR51B5,OR51B5,OR51M1 EXON Silent,Silent,Missense_L135F exm882733 11 5411122 [T/C] NR_038321,NM_001005567,NM_001004756 OR51B5,OR51B5,OR51M1 EXON Silent,Silent,Missense_P165L exm882737 11 5411239 [T/C] NR_038321,NM_001005567,NM_001004756 OR51B5,OR51B5,OR51M1 EXON Silent,Silent,Missense_I204T exm2218741 11 5411371 [A/G] NR_038321,NM_001005567,NM_001004756 OR51B5,OR51B5,OR51M1 EXON Silent,Silent,Missense_R248H exm882743 11 5411389 [C/G] NR_038321,NM_001005567,NM_001004756 OR51B5,OR51B5,OR51M1 EXON Silent,Silent,Missense_T254S exm882744 11 5411395 [A/C] NR_038321,NM_001005567,NM_001004756 OR51B5,OR51B5,OR51M1 EXON Silent,Silent,Missense_P256H exm882749 11 5411473 [A/C] NR_038321,NM_001005567,NM_001004756 OR51B5,OR51B5,OR51M1 EXON Silent,Silent,Missense_P282H exm882752 11 5411566 [A/G] NR_038321,NM_001005567,NM_001004756 OR51B5,OR51B5,OR51M1 EXON Silent,Silent,Missense_R313H exm882756 11 5411580 [T/C] NR_038321,NM_001005567,NM_001004756 OR51B5,OR51B5,OR51M1 EXON Silent,Silent,Missense_F318L exm882793 11 5443527 [A/G] NR_038321,NM_001005567,NM_001004757 OR51B5,OR51B5,OR51Q1 EXON Silent,Silent,Missense_V33I exm882799 11 5443599 [T/G] NR_038321,NM_001005567,NM_001004757 OR51B5,OR51B5,OR51Q1 EXON Silent,Silent,Missense_V57F exm882800 11 5443609 [A/G] NR_038321,NM_001005567,NM_001004757 OR51B5,OR51B5,OR51Q1 EXON Silent,Silent,Missense_R60H exm882803 11 5443682 [A/G] NR_038321,NM_001005567,NM_001004757 OR51B5,OR51B5,OR51Q1 EXON Silent,Silent,Missense_M84I exm882804 11 5443685 [C/G] NR_038321,NM_001005567,NM_001004757 OR51B5,OR51B5,OR51Q1 EXON Silent,Silent,Missense_Q85H exm882816 11 5443841 [C/G] NR_038321,NM_001005567,NM_001004757 OR51B5,OR51B5,OR51Q1 EXON Silent,Silent,Missense_I137M exm882818 11 5443867 [T/C] NR_038321,NM_001005567,NM_001004757 OR51B5,OR51B5,OR51Q1 EXON Silent,Silent,Missense_T146I exm882819 11 5443887 [T/C] NR_038321,NM_001005567,NM_001004757 OR51B5,OR51B5,OR51Q1 EXON Silent,Silent,Missense_C153R exm882820 11 5443893 [A/G] NR_038321,NM_001005567,NM_001004757 OR51B5,OR51B5,OR51Q1 EXON Silent,Silent,Missense_V155I exm882823 11 5443929 [T/C] NR_038321,NM_001005567,NM_001004757 OR51B5,OR51B5,OR51Q1 EXON Silent,Silent,Nonsense_R167X exm882826 11 5443969 [A/C] NR_038321,NM_001005567,NM_001004757 OR51B5,OR51B5,OR51Q1 EXON Silent,Silent,Missense_Y180S exm882829 11 5443993 [A/G] NR_038321,NM_001005567,NM_001004757 OR51B5,OR51B5,OR51Q1 EXON Silent,Silent,Missense_R188H exm882831 11 5444007 [A/G] NR_038321,NM_001005567,NM_001004757 OR51B5,OR51B5,OR51Q1 EXON Silent,Silent,Missense_D193N exm882834 11 5444040 [T/C] NR_038321,NM_001005567,NM_001004757 OR51B5,OR51B5,OR51Q1 EXON Silent,Silent,Missense_L204F exm882835 11 5444061 [A/G] NR_038321,NM_001005567,NM_001004757 OR51B5,OR51B5,OR51Q1 EXON Silent,Silent,Missense_V211M exm882840 11 5444136 [T/C] NR_038321,NM_001005567,NM_001004757 OR51B5,OR51B5,OR51Q1 EXON Silent,Silent,Nonsense_R236X exm882841 11 5444137 [A/G] NR_038321,NM_001005567,NM_001004757 OR51B5,OR51B5,OR51Q1 EXON Silent,Silent,Missense_R236Q exm882842 11 5444146 [A/C] NR_038321,NM_001005567,NM_001004757 OR51B5,OR51B5,OR51Q1 EXON Silent,Silent,Missense_A239D exm882844 11 5444172 [A/C] NR_038321,NM_001005567,NM_001004757 OR51B5,OR51B5,OR51Q1 EXON Silent,Silent,Missense_L248I exm882849 11 5444224 [A/G] NR_038321,NM_001005567,NM_001004757 OR51B5,OR51B5,OR51Q1 EXON Silent,Silent,Missense_R265H exm882856 11 5444353 [T/C] NR_038321,NM_001005567,NM_001004757 OR51B5,OR51B5,OR51Q1 EXON Silent,Silent,Missense_F308S exm882858 11 5461834 [C/G] NR_038321,NM_001005567,NM_001005288 OR51B5,OR51B5,OR51I1 EXON Silent,Silent,Missense_G304A exm882860 11 5461841 [A/G] NR_038321,NM_001005567,NM_001005288 OR51B5,OR51B5,OR51I1 EXON Silent,Silent,Missense_R302C exm882861 11 5461860 [A/C] NR_038321,NM_001005567,NM_001005288 OR51B5,OR51B5,OR51I1 EXON Silent,Silent,Missense_S295R exm882862 11 5461861 [G/C] NR_038321,NM_001005567,NM_001005288 OR51B5,OR51B5,OR51I1 EXON Silent,Silent,Missense_S295T exm882863 11 5461865 [A/C] NR_038321,NM_001005567,NM_001005288 OR51B5,OR51B5,OR51I1 EXON Silent,Silent,Missense_Y294D exm882866 11 5461951 [T/C] NR_038321,NM_001005567,NM_001005288 OR51B5,OR51B5,OR51I1 EXON Silent,Silent,Missense_R265H exm882868 11 5461955 [A/G] NR_038321,NM_001005567,NM_001005288 OR51B5,OR51B5,OR51I1 EXON Silent,Silent,Missense_H264Y exm882870 11 5461963 [A/G] NR_038321,NM_001005567,NM_001005288 OR51B5,OR51B5,OR51I1 EXON Silent,Silent,Missense_S261F exm882872 11 5461991 [A/C] NR_038321,NM_001005567,NM_001005288 OR51B5,OR51B5,OR51I1 EXON Silent,Silent,Missense_A252S exm882877 11 5462068 [T/G] NR_038321,NM_001005567,NM_001005288 OR51B5,OR51B5,OR51I1 EXON Silent,Silent,Missense_A226D exm882883 11 5462105 [T/C] NR_038321,NM_001005567,NM_001005288 OR51B5,OR51B5,OR51I1 EXON Silent,Silent,Missense_T214A exm882888 11 5462195 [G/C] NR_038321,NM_001005567,NM_001005288 OR51B5,OR51B5,OR51I1 EXON Silent,Silent,Missense_P184A exm882891 11 5462255 [G/C] NR_038321,NM_001005567,NM_001005288 OR51B5,OR51B5,OR51I1 EXON Silent,Silent,Missense_V164L exm882897 11 5462321 [A/G] NR_038321,NM_001005567,NM_001005288 OR51B5,OR51B5,OR51I1 EXON Silent,Silent,Missense_R142C exm882898 11 5462333 [C/G] NR_038321,NM_001005567,NM_001005288 OR51B5,OR51B5,OR51I1 EXON Silent,Silent,Missense_L138V exm882908 11 5462461 [A/G] NR_038321,NM_001005567,NM_001005288 OR51B5,OR51B5,OR51I1 EXON Silent,Silent,Missense_A95V exm882911 11 5462498 [T/C] NR_038321,NM_001005567,NM_001005288 OR51B5,OR51B5,OR51I1 EXON Silent,Silent,Missense_V83M exm882914 11 5462529 [T/A] NR_038321,NM_001005567,NM_001005288 OR51B5,OR51B5,OR51I1 EXON Silent,Silent,Missense_D72E exm882915 11 5462533 [T/C] NR_038321,NM_001005567,NM_001005288 OR51B5,OR51B5,OR51I1 EXON Silent,Silent,Missense_N71S exm882916 11 5462553 [G/C] NR_038321,NM_001005567,NM_001005288 OR51B5,OR51B5,OR51I1 EXON Silent,Silent,Missense_F64L exm882924 11 5462702 [A/G] NR_038321,NM_001005567,NM_001005288 OR51B5,OR51B5,OR51I1 EXON Silent,Silent,Nonsense_Q15X exm882927 11 5462737 [A/C] NR_038321,NM_001005567,NM_001005288 OR51B5,OR51B5,OR51I1 EXON Silent,Silent,Missense_G3V exm882929 11 5474721 [C/G] NR_038321,NM_001005567,NM_001004754 OR51B5,OR51B5,OR51I2 EXON Silent,Silent,Missense_M1I exm882930 11 5474747 [T/C] NR_038321,NM_001005567,NM_001004754 OR51B5,OR51B5,OR51I2 EXON Silent,Silent,Missense_A10V exm882938 11 5474878 [A/G] NR_038321,NM_001005567,NM_001004754 OR51B5,OR51B5,OR51I2 EXON Silent,Silent,Missense_S54G exm882939 11 5474894 [T/C] NR_038321,NM_001005567,NM_001004754 OR51B5,OR51B5,OR51I2 EXON Silent,Silent,Missense_M59T exm882941 11 5474965 [T/C] NR_038321,NM_001005567,NM_001004754 OR51B5,OR51B5,OR51I2 EXON Silent,Silent,Nonsense_R83X exm882942 11 5474971 [T/C] NR_038321,NM_001005567,NM_001004754 OR51B5,OR51B5,OR51I2 EXON Silent,Silent,Missense_F85L exm882944 11 5475082 [T/C] NR_038321,NM_001005567,NM_001004754 OR51B5,OR51B5,OR51I2 EXON Silent,Silent,Missense_R122C exm882947 11 5475118 [A/G] NR_038321,NM_001005567,NM_001004754 OR51B5,OR51B5,OR51I2 EXON Silent,Silent,Missense_T134A exm882948 11 5475170 [G/C] NR_038321,NM_001005567,NM_001004754 OR51B5,OR51B5,OR51I2 EXON Silent,Silent,Missense_R151P exm882958 11 5475409 [T/C] NR_038321,NM_001005567,NM_001004754 OR51B5,OR51B5,OR51I2 EXON Silent,Silent,Missense_R231C exm882963 11 5475440 [T/G] NR_038321,NM_001005567,NM_001004754 OR51B5,OR51B5,OR51I2 EXON Silent,Silent,Missense_C241F exm882968 11 5475505 [T/C] NR_038321,NM_001005567,NM_001004754 OR51B5,OR51B5,OR51I2 EXON Silent,Silent,Missense_R263C exm882969 11 5475506 [A/G] NR_038321,NM_001005567,NM_001004754 OR51B5,OR51B5,OR51I2 EXON Silent,Silent,Missense_R263H exm882975 11 5475598 [A/G] NR_038321,NM_001005567,NM_001004754 OR51B5,OR51B5,OR51I2 EXON Silent,Silent,Missense_A294T exm2264414 11 5491183 [A/C] NR_038321,NM_001005567 OR51B5,OR51B5 Silent,Silent exm882991 11 5510165 [A/G] NR_038321,NM_001005567,NM_001005163 OR51B5,OR51B5,OR52D1 EXON Silent,Silent,Missense_S77G exm882998 11 5510284 [A/G] NR_038321,NM_001005567,NM_001005163 OR51B5,OR51B5,OR52D1 EXON Silent,Silent,Synonymous_S116S exm883001 11 5510346 [A/C] NR_038321,NM_001005567,NM_001005163 OR51B5,OR51B5,OR52D1 EXON Silent,Silent,Missense_T137N exm883004 11 5510396 [T/C] NR_038321,NM_001005567,NM_001005163 OR51B5,OR51B5,OR52D1 EXON Silent,Silent,Missense_R154C exm883014 11 5510502 [A/G] NR_038321,NM_001005567,NM_001005163 OR51B5,OR51B5,OR52D1 EXON Silent,Silent,Missense_R189Q exm883018 11 5510540 [A/G] NR_038321,NM_001005567,NM_001005163 OR51B5,OR51B5,OR52D1 EXON Silent,Silent,Missense_G202R exm883020 11 5510553 [T/C] NR_038321,NM_001005567,NM_001005163 OR51B5,OR51B5,OR52D1 EXON Silent,Silent,Missense_A206V exm883021 11 5510561 [T/G] NR_038321,NM_001005567,NM_001005163 OR51B5,OR51B5,OR52D1 EXON Silent,Silent,Missense_A209S exm883022 11 5510575 [T/A] NR_038321,NM_001005567,NM_001005163 OR51B5,OR51B5,OR52D1 EXON Silent,Silent,Missense_D213E exm883024 11 5510598 [A/T] NR_038321,NM_001005567,NM_001005163 OR51B5,OR51B5,OR52D1 EXON Silent,Silent,Missense_Y221F exm883030 11 5510688 [T/C] NR_038321,NM_001005567,NM_001005163 OR51B5,OR51B5,OR52D1 EXON Silent,Silent,Missense_I251T exm883031 11 5510702 [A/G] NR_038321,NM_001005567,NM_001005163 OR51B5,OR51B5,OR52D1 EXON Silent,Silent,Missense_I256V exm883034 11 5510747 [A/G] NR_038321,NM_001005567,NM_001005163 OR51B5,OR51B5,OR52D1 EXON Silent,Silent,Missense_E271K exm883038 11 5510814 [T/C] NR_038321,NM_001005567,NM_001005163 OR51B5,OR51B5,OR52D1 EXON Silent,Silent,Missense_P293L exm883040 11 5510846 [T/C] NR_038321,NM_001005567,NM_001005163 OR51B5,OR51B5,OR52D1 EXON Silent,Silent,Missense_R304W exm883051 11 5528864 [T/C] NM_017481 UBQLN3 EXON Missense_G642E exm883054 11 5528909 [A/C] NM_017481 UBQLN3 EXON Missense_G627V exm883057 11 5528918 [T/C] NM_017481 UBQLN3 EXON Missense_R624Q exm883070 11 5529126 [T/C] NM_017481 UBQLN3 EXON Missense_V555M exm883071 11 5529134 [A/G] NM_017481 UBQLN3 EXON Missense_T552M exm883073 11 5529152 [A/G] NM_017481 UBQLN3 EXON Missense_M546T exm2218754 11 5529192 [T/C] NM_017481 UBQLN3 EXON Missense_V533I exm883078 11 5529215 [T/C] NM_017481 UBQLN3 EXON Missense_R525Q exm883081 11 5529234 [A/G] NM_017481 UBQLN3 EXON Missense_R519C exm883091 11 5529441 [A/C] NM_017481 UBQLN3 EXON Missense_D450Y exm883092 11 5529452 [A/G] NM_017481 UBQLN3 EXON Missense_S446L exm883093 11 5529519 [T/C] NM_017481 UBQLN3 EXON Missense_G424S exm883106 11 5529840 [C/G] NM_017481 UBQLN3 EXON Missense_Q317E exm883109 11 5529888 [A/G] NM_017481 UBQLN3 EXON Missense_P301S exm883111 11 5529920 [G/C] NM_017481 UBQLN3 EXON Missense_T290S exm883112 11 5529936 [T/C] NM_017481 UBQLN3 EXON Missense_N285D exm883114 11 5529987 [T/C] NM_017481 UBQLN3 EXON Missense_A268T exm883115 11 5529995 [A/G] NM_017481 UBQLN3 EXON Missense_M265T exm883116 11 5530026 [A/G] NM_017481 UBQLN3 EXON Missense_C255R exm883118 11 5530074 [G/C] NM_017481 UBQLN3 EXON Missense_R239G exm883121 11 5530148 [A/G] NM_017481 UBQLN3 EXON Missense_P214L exm883123 11 5530160 [A/G] NM_017481 UBQLN3 EXON Missense_I210T exm883127 11 5530313 [T/C] NM_017481 UBQLN3 EXON Missense_R159Q exm883129 11 5530335 [C/G] NM_017481 UBQLN3 EXON Missense_D152H exm883140 11 5530503 [A/G] NM_017481 UBQLN3 EXON Missense_R96C exm1717457 11 5530504 [T/G] NM_017481 UBQLN3 EXON Missense_H95Q exm883142 11 5530545 [A/G] NM_017481 UBQLN3 EXON Nonsense_R82X exm883147 11 5530632 [A/G] NM_017481 UBQLN3 EXON Missense_R53C exm883154 11 5530764 [T/G] NM_017481 UBQLN3 EXON Missense_P9T exm883161 11 5536279 [A/G] NM_145053 UBQLNL EXON Nonsense_Q465X exm883162 11 5536309 [G/C] NM_145053 UBQLNL EXON Missense_Q455E exm883166 11 5536386 [A/G] NM_145053 UBQLNL EXON Missense_M429T exm883170 11 5536501 [T/G] NM_145053 UBQLNL EXON Missense_Q391K exm883173 11 5536530 [T/G] NM_145053 UBQLNL EXON Missense_P381Q exm883174 11 5536537 [A/C] NM_145053 UBQLNL EXON Missense_W379G exm883176 11 5536548 [T/C] NM_145053 UBQLNL EXON Missense_R375Q exm883183 11 5536650 [A/G] NM_145053 UBQLNL EXON Missense_S341L exm883185 11 5536684 [A/G] NM_145053 UBQLNL EXON Nonsense_R330X exm883187 11 5536759 [A/G] NM_145053 UBQLNL EXON Nonsense_Q305X exm883188 11 5536764 [A/C] NM_145053 UBQLNL EXON Missense_L303R exm883189 11 5536773 [T/C] NM_145053 UBQLNL EXON Missense_G300E exm883195 11 5536852 [A/G] NM_145053 UBQLNL EXON Missense_Y274H exm883205 11 5537034 [T/C] NM_145053 UBQLNL EXON Missense_R213H exm883209 11 5537070 [A/G] NM_145053 UBQLNL EXON Missense_T201M exm883210 11 5537100 [A/G] NM_145053 UBQLNL EXON Missense_M191T exm883211 11 5537125 [A/G] NM_145053 UBQLNL EXON Missense_R183W exm883218 11 5537245 [T/G] NM_145053 UBQLNL EXON Missense_Q143K exm883219 11 5537266 [A/G] NM_145053 UBQLNL EXON Missense_H136Y exm883222 11 5537302 [A/G] NM_145053 UBQLNL EXON Missense_R124W exm883231 11 5537397 [A/T] NM_145053 UBQLNL EXON Missense_D92V exm883240 11 5537469 [A/T] NM_145053 UBQLNL EXON Missense_D68V exm883242 11 5537518 [T/C] NM_145053 UBQLNL EXON Missense_V52I exm883243 11 5537520 [A/G] NM_145053 UBQLNL EXON Missense_S51L exm883244 11 5537577 [T/C] NM_145053 UBQLNL EXON Missense_R32Q exm2218763 11 5537592 [C/G] NM_145053 UBQLNL EXON Missense_S27C exm883246 11 5537608 [C/G] NM_145053 UBQLNL EXON Missense_A22P exm883252 11 5565906 [A/G] NM_001005289 OR52H1 EXON Missense_M283T exm883254 11 5565942 [T/C] NM_001005289 OR52H1 EXON Missense_R271H exm883258 11 5566002 [A/G] NM_001005289 OR52H1 EXON Missense_S251F exm883259 11 5566014 [T/C] NM_001005289 OR52H1 EXON Missense_G247D exm883261 11 5566030 [A/G] NM_001005289 OR52H1 EXON Missense_C242R exm883262 11 5566034 [T/A] NM_001005289 OR52H1 EXON Missense_D240E exm883264 11 5566051 [A/C] NM_001005289 OR52H1 EXON Missense_G235C exm883265 11 5566074 [A/G] NM_001005289 OR52H1 EXON Missense_A227V exm883268 11 5566084 [T/C] NM_001005289 OR52H1 EXON Missense_V224I exm883275 11 5566164 [C/G] NM_001005289 OR52H1 EXON Missense_C197S exm883282 11 5566365 [T/C] NM_001005289 OR52H1 EXON Missense_H130R exm883284 11 5566390 [T/C] NM_001005289 OR52H1 EXON Missense_I122V exm883287 11 5566440 [A/C] NM_001005289 OR52H1 EXON Missense_C105F exm883290 11 5566489 [T/C] NM_001005289 OR52H1 EXON Missense_A89T exm883292 11 5566507 [T/C] NM_001005289 OR52H1 EXON Missense_T83A exm883293 11 5566533 [A/C] NM_001005289 OR52H1 EXON Missense_L74R exm883295 11 5566584 [A/G] NM_001005289 OR52H1 EXON Missense_I57T exm883296 11 5566590 [T/C] NM_001005289 OR52H1 EXON Missense_Y55C exm883297 11 5566591 [A/C] NM_001005289 OR52H1 EXON Missense_Y55D exm883298 11 5566615 [T/C] NM_001005289 OR52H1 EXON Missense_V47I exm883299 11 5566620 [A/G] NM_001005289 OR52H1 EXON Missense_V45A exm883303 11 5566751 [A/C] NM_001005289 OR52H1 EXON Missense_M1I exm883308 11 5602135 [A/T] NM_001005162 OR52B6 EXON Missense_I10N exm883310 11 5602188 [T/C] NM_001005162 OR52B6 EXON Missense_R28C exm883314 11 5602275 [A/G] NM_001005162 OR52B6 EXON Missense_T57A exm883318 11 5602438 [T/A] NM_001005162 OR52B6 EXON Missense_L111H exm883319 11 5602461 [A/C] NM_001005162 OR52B6 EXON Missense_T119P exm883323 11 5602537 [T/C] NM_001005162 OR52B6 EXON Missense_A144V exm883324 11 5602555 [A/G] NM_001005162 OR52B6 EXON Missense_R150Q exm883326 11 5602605 [A/G] NM_001005162 OR52B6 EXON Missense_A167T exm883327 11 5602615 [A/G] NM_001005162 OR52B6 EXON Missense_H170R exm1718254 11 5602798 [T/C] NM_001005162 OR52B6 EXON Missense_M231T exm2249997 11 5602928 [G/C] NM_001005162 OR52B6 EXON Synonymous_A274A exm883344 11 5602929 [A/C] NM_001005162 OR52B6 EXON Missense_L275I exm883348 11 5602951 [A/G] NM_001005162 OR52B6 EXON Missense_R282K exm883350 11 5602968 [A/G] NM_001005162 OR52B6 EXON Missense_V288I exm883360 11 5624495 [A/G] NM_058166,NM_001003818,NM_001198644,NM_001198645,NM_001003819 TRIM6,TRIM6,TRIM6,TRIM6,TRIM6-TRIM34 EXON Silent,Missense_I13V,Silent,Silent,Missense_I13V exm883387 11 5624792 [A/G] NM_058166,NM_001003818,NM_001198644,NM_001198645,NM_001003819 TRIM6,TRIM6,TRIM6,TRIM6,TRIM6-TRIM34 EXON Missense_V84I,Missense_V112I,Silent,Silent,Missense_V112I exm883401 11 5625766 [T/G] NM_058166,NM_001003818,NM_001198644,NM_001198645,NM_001003819 TRIM6,TRIM6,TRIM6,TRIM6,TRIM6-TRIM34 EXON Missense_E142D,Missense_E170D,Silent,Silent,Missense_E170D exm883403 11 5625800 [A/G] NM_058166,NM_001003818,NM_001198644,NM_001198645,NM_001003819 TRIM6,TRIM6,TRIM6,TRIM6,TRIM6-TRIM34 EXON Missense_E154K,Missense_E182K,Silent,Silent,Missense_E182K exm883411 11 5626614 [C/G] NM_058166,NM_001003818,NM_001198644,NM_001198645,NM_001003819 TRIM6,TRIM6,TRIM6,TRIM6,TRIM6-TRIM34 EXON Missense_Q189H,Missense_Q217H,Missense_Q14H,Missense_Q14H,Missense_Q217H exm883413 11 5626625 [T/C] NM_058166,NM_001003818,NM_001198644,NM_001198645,NM_001003819 TRIM6,TRIM6,TRIM6,TRIM6,TRIM6-TRIM34 EXON Missense_I193T,Missense_I221T,Missense_I18T,Missense_I18T,Missense_I221T exm883415 11 5626659 [T/G] NM_058166,NM_001003818,NM_001198644,NM_001198645,NM_001003819 TRIM6,TRIM6,TRIM6,TRIM6,TRIM6-TRIM34 EXON Missense_K204N,Missense_K232N,Missense_K29N,Missense_K29N,Missense_K232N exm883416 11 5626675 [T/A] NM_058166,NM_001003818,NM_001198644,NM_001198645,NM_001003819 TRIM6,TRIM6,TRIM6,TRIM6,TRIM6-TRIM34 EXON Nonsense_K210X,Nonsense_K238X,Nonsense_K35X,Nonsense_K35X,Nonsense_K238X exm883423 11 5631375 [A/G] NM_058166,NM_001003818,NM_001198644,NM_001198645,NM_001003819 TRIM6,TRIM6,TRIM6,TRIM6,TRIM6-TRIM34 EXON Synonymous_R258R,Synonymous_R286R,Synonymous_R83R,Synonymous_R83R,Synonymous_R286R exm883429 11 5631470 [T/G] NM_058166,NM_001003818,NM_001198644,NM_001198645,NM_001003819 TRIM6,TRIM6,TRIM6,TRIM6,TRIM6-TRIM34 EXON Missense_C290F,Missense_C318F,Missense_C115F,Missense_C115F,Missense_C318F exm883435 11 5632018 [A/C] NM_058166,NM_001003818,NM_001198644,NM_001198645,NM_001003819 TRIM6,TRIM6,TRIM6,TRIM6,TRIM6-TRIM34 EXON Missense_L305M,Missense_L333M,Missense_L130M,Missense_L130M,Silent exm883438 11 5632075 [A/G] NM_058166,NM_001003818,NM_001198644,NM_001198645,NM_001003819 TRIM6,TRIM6,TRIM6,TRIM6,TRIM6-TRIM34 EXON Missense_R324G,Missense_R352G,Missense_R149G,Missense_R149G,Silent exm883440 11 5632121 [A/G] NM_058166,NM_001003818,NM_001198644,NM_001198645,NM_001003819 TRIM6,TRIM6,TRIM6,TRIM6,TRIM6-TRIM34 EXON Missense_H339R,Missense_H367R,Missense_H164R,Missense_H164R,Silent exm883441 11 5632148 [A/C] NM_058166,NM_001003818,NM_001198644,NM_001198645,NM_001003819 TRIM6,TRIM6,TRIM6,TRIM6,TRIM6-TRIM34 EXON Missense_Q348P,Missense_Q376P,Missense_Q173P,Missense_Q173P,Silent exm1718732 11 5632403 [T/C] NM_058166,NM_001003818,NM_001198644,NM_001198645,NM_001003819 TRIM6,TRIM6,TRIM6,TRIM6,TRIM6-TRIM34 EXON Missense_V433A,Missense_V461A,Missense_V258A,Missense_V258A,Silent exm883452 11 5632525 [A/C] NM_058166,NM_001003818,NM_001198644,NM_001198645,NM_001003819 TRIM6,TRIM6,TRIM6,TRIM6,TRIM6-TRIM34 EXON Missense_P474T,Missense_P502T,Missense_P299T,Missense_P299T,Silent exm883453 11 5632555 [T/C] NM_058166,NM_001003818,NM_001198644,NM_001198645,NM_001003819 TRIM6,TRIM6,TRIM6,TRIM6,TRIM6-TRIM34 EXON Missense_R484C,Missense_R512C,Missense_R309C,Missense_R309C,Silent exm883473 11 5653978 [A/C] NM_001003819,NM_001003827,NM_021616,NM_130390 TRIM6-TRIM34,TRIM34,TRIM34,TRIM34 EXON Missense_E493D,Missense_E139D,Missense_E139D,Missense_E139D exm883474 11 5655036 [G/C] NM_001003819,NM_001003827,NM_021616,NM_130390 TRIM6-TRIM34,TRIM34,TRIM34,TRIM34 EXON Missense_E496D,Missense_E142D,Missense_E142D,Missense_E142D exm883477 11 5655956 [C/G] NM_001003819,NM_001003827,NM_021616,NM_130390 TRIM6-TRIM34,TRIM34,TRIM34,TRIM34 EXON Missense_L559F,Missense_L205F,Missense_L205F,Missense_L205F exm883480 11 5655976 [T/C] NM_001003819,NM_001003827,NM_021616,NM_130390 TRIM6-TRIM34,TRIM34,TRIM34,TRIM34 EXON Missense_T566M,Missense_T212M,Missense_T212M,Missense_T212M exm883489 11 5663669 [T/G] NM_001003819,NM_001003827,NM_021616 TRIM6-TRIM34,TRIM34,TRIM34 EXON Missense_M623I,Missense_M269I,Missense_M269I exm883490 11 5663688 [A/T] NM_001003819,NM_001003827,NM_021616 TRIM6-TRIM34,TRIM34,TRIM34 EXON Missense_T630S,Missense_T276S,Missense_T276S exm883491 11 5663706 [G/C] NM_001003819,NM_001003827,NM_021616 TRIM6-TRIM34,TRIM34,TRIM34 EXON Missense_D636H,Missense_D282H,Missense_D282H exm883504 11 5664614 [A/G] NM_001003819,NM_001003827,NM_021616 TRIM6-TRIM34,TRIM34,TRIM34 EXON Missense_C735Y,Missense_C381Y,Missense_C381Y exm883509 11 5664672 [A/G] NM_001003819,NM_001003827,NM_021616 TRIM6-TRIM34,TRIM34,TRIM34 EXON Missense_I754M,Missense_I400M,Missense_I400M exm883510 11 5664684 [T/G] NM_001003819,NM_001003827,NM_021616 TRIM6-TRIM34,TRIM34,TRIM34 EXON Missense_N758K,Missense_N404K,Missense_N404K exm883514 11 5664746 [A/C] NM_001003819,NM_001003827,NM_021616 TRIM6-TRIM34,TRIM34,TRIM34 EXON Missense_S779Y,Missense_S425Y,Missense_S425Y exm883525 11 5686085 [A/G] NM_033092,NM_033034,NM_033093 TRIM5,TRIM5,TRIM5 EXON Silent,Missense_P479L,Silent exm883530 11 5686140 [T/G] NM_033092,NM_033034,NM_033093 TRIM5,TRIM5,TRIM5 EXON Silent,Missense_I461L,Silent exm1719445 11 5686870 [A/T] NM_033092,NM_033034,NM_033093 TRIM5,TRIM5,TRIM5 EXON Missense_H304L,Silent,Silent exm883556 11 5687250 [A/G] NM_033092,NM_033034,NM_033093 TRIM5,TRIM5,TRIM5 EXON Nonsense_R277X,Nonsense_R277X,Nonsense_R277X exm883558 11 5688940 [T/C] NM_033092,NM_033034,NM_033093 TRIM5,TRIM5,TRIM5 EXON Missense_G249D,Missense_G249D,Missense_G249D exm883563 11 5699466 [A/G] NM_033092,NM_033034,NM_033093 TRIM5,TRIM5,TRIM5 EXON Missense_R238W,Missense_R238W,Missense_R238W exm883564 11 5699471 [T/C] NM_033092,NM_033034,NM_033093 TRIM5,TRIM5,TRIM5 EXON Missense_E236G,Missense_E236G,Missense_E236G exm883577 11 5700399 [C/G] NM_033092,NM_033034,NM_033093 TRIM5,TRIM5,TRIM5 EXON Missense_V140L,Missense_V140L,Missense_V140L exm883578 11 5701001 [T/C] NM_033092,NM_033034,NM_033093 TRIM5,TRIM5,TRIM5 EXON Missense_R136Q,Missense_R136Q,Missense_R136Q exm883582 11 5701052 [T/C] NM_033092,NM_033034,NM_033093 TRIM5,TRIM5,TRIM5 EXON Missense_R119Q,Missense_R119Q,Missense_R119Q exm883583 11 5701053 [A/G] NM_033092,NM_033034,NM_033093 TRIM5,TRIM5,TRIM5 EXON Missense_R119W,Missense_R119W,Missense_R119W exm883585 11 5701079 [T/C] NM_033092,NM_033034,NM_033093 TRIM5,TRIM5,TRIM5 EXON Missense_G110E,Missense_G110E,Missense_G110E exm883589 11 5701157 [T/C] NM_033092,NM_033034,NM_033093 TRIM5,TRIM5,TRIM5 EXON Missense_K84R,Missense_K84R,Missense_K84R exm883590 11 5701160 [A/G] NM_033092,NM_033034,NM_033093 TRIM5,TRIM5,TRIM5 EXON Missense_V83A,Missense_V83A,Missense_V83A exm883591 11 5701178 [A/G] NM_033092,NM_033034,NM_033093 TRIM5,TRIM5,TRIM5 EXON Missense_V77A,Missense_V77A,Missense_V77A exm883594 11 5701235 [T/C] NM_033092,NM_033034,NM_033093 TRIM5,TRIM5,TRIM5 EXON Missense_C58Y,Missense_C58Y,Missense_C58Y exm883596 11 5701281 [A/G] NM_033092,NM_033034,NM_033093 TRIM5,TRIM5,TRIM5 EXON Missense_H43Y,Missense_H43Y,Missense_H43Y exm883599 11 5701317 [T/C] NM_033092,NM_033034,NM_033093 TRIM5,TRIM5,TRIM5 EXON Missense_G31S,Missense_G31S,Missense_G31S exm883606 11 5717482 [T/C] NM_001199573,NM_006074 TRIM22,TRIM22 EXON Missense_V7A,Missense_V7A exm883611 11 5717644 [A/C] NM_001199573,NM_006074 TRIM22,TRIM22 EXON Missense_T61N,Missense_T61N exm883612 11 5717667 [T/C] NM_001199573,NM_006074 TRIM22,TRIM22 EXON Nonsense_R69X,Nonsense_R69X exm883617 11 5717709 [A/G] NM_001199573,NM_006074 TRIM22,TRIM22 EXON Missense_E83K,Missense_E83K exm883619 11 5717730 [A/G] NM_001199573,NM_006074 TRIM22,TRIM22 EXON Missense_E90K,Missense_E90K exm883630 11 5718503 [C/G] NM_001199573,NM_006074 TRIM22,TRIM22 EXON Missense_R150T,Missense_R150T exm883632 11 5718517 [A/G] NM_001199573,NM_006074 TRIM22,TRIM22 EXON Missense_D155N,Missense_D155N exm883639 11 5719578 [A/C] NM_001199573,NM_006074 TRIM22,TRIM22 EXON Missense_K181Q,Missense_K185Q exm883643 11 5719719 [A/G] NM_001199573,NM_006074 TRIM22,TRIM22 EXON Missense_T228A,Missense_T232A exm883646 11 5719741 [A/G] NM_001199573,NM_006074 TRIM22,TRIM22 EXON Missense_R235Q,Missense_R239Q exm883656 11 5727836 [A/G] NM_001199573,NM_006074 TRIM22,TRIM22 EXON Missense_V251I,Missense_V255I exm883666 11 5729813 [A/C] NM_001199573,NM_006074 TRIM22,TRIM22 EXON Missense_T290K,Missense_T294K exm2250018 11 5730317 [A/G] NM_001199573,NM_006074 TRIM22,TRIM22 EXON Synonymous_S308S,Synonymous_S312S exm883671 11 5730343 [A/G] NM_001199573,NM_006074 TRIM22,TRIM22 EXON Missense_R317K,Missense_R321K exm883672 11 5730361 [A/G] NM_001199573,NM_006074 TRIM22,TRIM22 EXON Missense_R323H,Missense_R327H exm883687 11 5730625 [T/C] NM_001199573,NM_006074 TRIM22,TRIM22 EXON Missense_T411I,Missense_T415I exm883689 11 5730685 [T/G] NM_001199573,NM_006074 TRIM22,TRIM22 EXON Missense_F431C,Missense_F435C exm883690 11 5730705 [T/C] NM_001199573,NM_006074 TRIM22,TRIM22 EXON Missense_R438C,Missense_R442C exm883691 11 5730745 [A/C] NM_001199573,NM_006074 TRIM22,TRIM22 EXON Nonsense_S451X,Nonsense_S455X exm883698 11 5730831 [T/C] NM_001199573,NM_006074 TRIM22,TRIM22 EXON Missense_P480S,Missense_P484S exm2276151 11 5730854 [A/G] NM_001199573,NM_006074 TRIM22,TRIM22 EXON Missense_M487I,Missense_M491I exm883707 11 5757832 [T/C] NM_001005180 OR56B1 EXON Missense_I29T exm883709 11 5757920 [C/G] NM_001005180 OR56B1 EXON Missense_I58M exm883711 11 5757930 [G/C] NM_001005180 OR56B1 EXON Missense_P62A exm883718 11 5758002 [A/G] NM_001005180 OR56B1 EXON Missense_I86V exm1720271 11 5758012 [A/G] NM_001005180 OR56B1 EXON Missense_K89R exm883722 11 5758051 [A/G] NM_001005180 OR56B1 EXON Missense_S102N exm883723 11 5758062 [T/C] NM_001005180 OR56B1 EXON Missense_C106R exm883726 11 5758164 [T/C] NM_001005180 OR56B1 EXON Missense_R140C exm883735 11 5758270 [A/G] NM_001005180 OR56B1 EXON Missense_R175H exm883737 11 5758347 [A/G] NM_001005180 OR56B1 EXON Missense_R201G exm883739 11 5758386 [T/C] NM_001005180 OR56B1 EXON Missense_L214F exm883740 11 5758395 [A/G] NM_001005180 OR56B1 EXON Missense_G217R exm883741 11 5758408 [A/G] NM_001005180 OR56B1 EXON Missense_S221N exm883754 11 5758641 [G/C] NM_001005180 OR56B1 EXON Missense_V299L exm883756 11 5758650 [T/C] NM_001005180 OR56B1 EXON Missense_L302F exm883759 11 5758715 [T/A] NM_001005180 OR56B1 EXON Missense_R323S exm883763 11 5776044 [T/C] NM_001005175 OR52N4 EXON Missense_T25I exm883765 11 5776093 [A/G] NM_001005175 OR52N4 EXON Missense_M41I exm883770 11 5776251 [T/C] NM_001005175 OR52N4 EXON Missense_I94T exm883771 11 5776287 [T/C] NM_001005175 OR52N4 EXON Missense_T106I exm883775 11 5776338 [A/C] NM_001005175 OR52N4 EXON Missense_D123A exm883778 11 5776368 [A/G] NM_001005175 OR52N4 EXON Missense_R133H exm883784 11 5776470 [T/G] NM_001005175 OR52N4 EXON Missense_L167R exm883785 11 5776479 [A/C] NM_001005175 OR52N4 EXON Missense_Y170S exm883786 11 5776484 [T/A] NM_001005175 OR52N4 EXON Nonsense_R172X exm883788 11 5776595 [T/G] NM_001005175 OR52N4 EXON Missense_W209G exm883790 11 5776626 [T/C] NM_001005175 OR52N4 EXON Missense_S219F exm883792 11 5776644 [A/G] NM_001005175 OR52N4 EXON Missense_R225Q exm883796 11 5776749 [T/C] NM_001005175 OR52N4 EXON Missense_S260F exm883797 11 5776779 [T/C] NM_001005175 OR52N4 EXON Missense_I270T exm883799 11 5776803 [T/C] NM_001005175 OR52N4 EXON Missense_I278T exm883802 11 5776812 [A/G] NM_001005175 OR52N4 EXON Missense_N281S exm883806 11 5776877 [T/C] NM_001005175 OR52N4 EXON Nonsense_R303X exm883807 11 5776926 [A/G] NM_001005175 OR52N4 EXON Missense_Y319C exm883885 11 5809455 [T/C] NM_001001913 OR52N1 EXON Missense_A198T exm883892 11 5809548 [A/G] NM_001001913 OR52N1 EXON Missense_R167C exm883903 11 5809673 [T/C] NM_001001913 OR52N1 EXON Missense_C125Y exm883906 11 5809701 [A/C] NM_001001913 OR52N1 EXON Missense_V116L exm883907 11 5809724 [A/G] NM_001001913 OR52N1 EXON Missense_T108I exm883908 11 5809746 [T/C] NM_001001913 OR52N1 EXON Missense_A101T exm883913 11 5809811 [T/G] NM_001001913 OR52N1 EXON Missense_T79N exm883915 11 5809866 [T/C] NM_001001913 OR52N1 EXON Missense_M61V exm883916 11 5809901 [T/C] NM_001001913 OR52N1 EXON Missense_Y49C exm883929 11 5841650 [A/G] NM_001005174 OR52N2 EXON Missense_I29V exm883931 11 5841701 [A/G] NM_001005174 OR52N2 EXON Missense_G46R exm883932 11 5841743 [T/C] NM_001005174 OR52N2 EXON Missense_P60S exm883934 11 5841762 [T/C] NM_001005174 OR52N2 EXON Missense_A66V exm883944 11 5841926 [A/G] NM_001005174 OR52N2 EXON Missense_A121T exm883948 11 5842041 [T/C] NM_001005174 OR52N2 EXON Missense_I159T exm883949 11 5842050 [A/C] NM_001005174 OR52N2 EXON Missense_T162N exm883952 11 5842080 [A/G] NM_001005174 OR52N2 EXON Missense_R172Q exm1720876 11 5842134 [T/C] NM_001005174 OR52N2 EXON Missense_S190F exm883958 11 5842193 [A/G] NM_001005174 OR52N2 EXON Missense_V210M exm883961 11 5842248 [T/C] NM_001005174 OR52N2 EXON Missense_M228T exm883963 11 5842272 [A/G] NM_001005174 OR52N2 EXON Missense_R236H exm883964 11 5842277 [A/G] NM_001005174 OR52N2 EXON Missense_K238E exm883965 11 5842283 [T/A] NM_001005174 OR52N2 EXON Missense_F240I exm883966 11 5842310 [T/G] NM_001005174 OR52N2 EXON Missense_S249A exm883969 11 5842329 [T/G] NM_001005174 OR52N2 EXON Missense_V255G exm883973 11 5842359 [A/G] NM_001005174 OR52N2 EXON Missense_R265H exm883975 11 5842384 [C/G] NM_001005174 OR52N2 EXON Missense_N273K exm1720878 11 5842450 [T/C] NM_001005174 OR52N2 EXON Synonymous_Y295Y exm883985 11 5842494 [T/C] NM_001005174 OR52N2 EXON Missense_L310S exm883986 11 5842521 [A/G] NM_001005174 OR52N2 EXON Missense_Y319C exm883989 11 5862238 [A/G] NM_001005167 OR52E6 EXON Missense_T297I exm883994 11 5862339 [G/C] NM_001005167 OR52E6 EXON Missense_H263Q exm883995 11 5862341 [A/G] NM_001005167 OR52E6 EXON Missense_H263Y exm883997 11 5862383 [T/C] NM_001005167 OR52E6 EXON Missense_I249V exm883999 11 5862416 [T/C] NM_001005167 OR52E6 EXON Missense_A238T exm884003 11 5862442 [A/C] NM_001005167 OR52E6 EXON Missense_L229R exm884009 11 5862532 [A/C] NM_001005167 OR52E6 EXON Missense_M199R exm884012 11 5862566 [A/G] NM_001005167 OR52E6 EXON Missense_R188C exm884014 11 5862607 [T/C] NM_001005167 OR52E6 EXON Missense_R174H exm884017 11 5862619 [T/A] NM_001005167 OR52E6 EXON Missense_F170Y exm884020 11 5862653 [T/C] NM_001005167 OR52E6 EXON Missense_I159V exm884027 11 5862758 [A/G] NM_001005167 OR52E6 EXON Missense_R124C exm884032 11 5862797 [T/C] NM_001005167 OR52E6 EXON Missense_V111I exm884034 11 5862836 [G/C] NM_001005167 OR52E6 EXON Missense_G98R exm884035 11 5862845 [A/G] NM_001005167 OR52E6 EXON Missense_S95P exm884036 11 5862869 [A/C] NM_001005167 OR52E6 EXON Missense_F87V exm884037 11 5862872 [T/C] NM_001005167 OR52E6 EXON Missense_I86V exm884047 11 5862984 [C/G] NM_001005167 OR52E6 EXON Missense_F48L exm884049 11 5862995 [T/C] NM_001005167 OR52E6 EXON Missense_A45T exm884051 11 5863013 [T/C] NM_001005167 OR52E6 EXON Missense_I39V exm884056 11 5863100 [A/G] NM_001005167 OR52E6 EXON Missense_H10Y exm884090 11 5878523 [T/C] NM_001005168 OR52E8 EXON Missense_R137Q exm884093 11 5878551 [A/G] NM_001005168 OR52E8 EXON Missense_R128C exm884100 11 5878617 [A/G] NM_001005168 OR52E8 EXON Missense_H106Y exm884102 11 5878628 [T/C] NM_001005168 OR52E8 EXON Missense_G102D exm884114 11 5878836 [A/T] NM_001005168 OR52E8 EXON Missense_I33F exm884118 11 5905557 [A/C] NM_001005165 OR52E4 EXON Missense_P12H exm884121 11 5905598 [A/C] NM_001005165 OR52E4 EXON Missense_H26N exm884125 11 5905639 [T/G] NM_001005165 OR52E4 EXON Missense_I39M exm884127 11 5905669 [T/G] NM_001005165 OR52E4 EXON Missense_F49L exm884138 11 5906048 [A/G] NM_001005165 OR52E4 EXON Missense_V176I exm884139 11 5906073 [T/G] NM_001005165 OR52E4 EXON Missense_R184M exm884142 11 5906117 [A/G] NM_001005165 OR52E4 EXON Missense_I199V exm884150 11 5906193 [A/G] NM_001005165 OR52E4 EXON Missense_R224K exm884151 11 5906203 [T/G] NM_001005165 OR52E4 EXON Missense_F227L exm884153 11 5906205 [A/G] NM_001005165 OR52E4 EXON Missense_R228H exm884163 11 5906291 [T/C] NM_001005165 OR52E4 EXON Missense_F257L exm884169 11 5906367 [T/C] NM_001005165 OR52E4 EXON Missense_V282A exm884171 11 5906424 [A/G] NM_001005165 OR52E4 EXON Missense_R301Q exm884180 11 5968728 [T/C] NM_001003443 OR56A3 EXON Missense_M51T exm884188 11 5969073 [T/C] NM_001003443 OR56A3 EXON Missense_L166P exm884203 11 5969429 [T/C] NM_001003443 OR56A3 EXON Missense_H285Y exm884217 11 5989145 [T/C] NM_001146033 OR56A5 EXON Missense_D194N exm884219 11 5989180 [T/C] NM_001146033 OR56A5 EXON Missense_C182Y exm884221 11 5989191 [G/C] NM_001146033 OR56A5 EXON Missense_K178N exm884222 11 5989223 [A/G] NM_001146033 OR56A5 EXON Nonsense_R168X exm884224 11 5989282 [A/G] NM_001146033 OR56A5 EXON Missense_A148V exm884227 11 5989415 [T/C] NM_001146033 OR56A5 EXON Missense_V104M exm884236 11 6007202 [T/C] NM_001005173 OR52L1 EXON Missense_R320Q exm884239 11 6007250 [A/G] NM_001005173 OR52L1 EXON Missense_A304V exm884241 11 6007271 [T/C] NM_001005173 OR52L1 EXON Nonsense_W297X exm884242 11 6007272 [A/G] NM_001005173 OR52L1 EXON Missense_W297R exm884249 11 6007352 [T/C] NM_001005173 OR52L1 EXON Missense_Y270C exm1722267 11 6007469 [A/G] NM_001005173 OR52L1 EXON Missense_A231V exm884263 11 6007602 [A/C] NM_001005173 OR52L1 EXON Missense_C187G exm884264 11 6007613 [T/G] NM_001005173 OR52L1 EXON Missense_K183T exm884276 11 6007806 [T/C] NM_001005173 OR52L1 EXON Missense_M119V exm884301 11 6008156 [T/G] NM_001005173 OR52L1 EXON Missense_T2N exm884309 11 6023475 [C/G] NM_001005179 OR56A4 EXON Missense_L302V exm884322 11 6023630 [T/C] NM_001005179 OR56A4 EXON Missense_N250S exm884323 11 6023640 [T/C] NM_001005179 OR56A4 EXON Missense_I247V exm884328 11 6023762 [T/C] NM_001005179 OR56A4 EXON Missense_R206Q exm884329 11 6023763 [A/G] NM_001005179 OR56A4 EXON Missense_R206W exm884333 11 6023849 [T/C] NM_001005179 OR56A4 EXON Missense_R177H exm884337 11 6023911 [T/C] NM_001005179 OR56A4 EXON Missense_M156I exm884358 11 6024308 [A/G] NM_001005179 OR56A4 EXON Missense_T24M exm884359 11 6024349 [A/C] NM_001005179 OR56A4 EXON Missense_L10F exm884374 11 6048152 [T/C] NM_001001917 OR56A1 EXON Missense_I261M exm884377 11 6048172 [T/C] NM_001001917 OR56A1 EXON Missense_I255V exm884382 11 6048216 [A/G] NM_001001917 OR56A1 EXON Missense_A240V exm884388 11 6048372 [T/G] NM_001001917 OR56A1 EXON Missense_N188T exm2271456 11 6070462 [T/C] exm884421 11 6129082 [A/G] NM_001005181 OR56B4 EXON Missense_G25D exm884432 11 6129177 [T/C] NM_001005181 OR56B4 EXON Missense_H57Y exm884441 11 6129334 [T/C] NM_001005181 OR56B4 EXON Missense_A109V exm884445 11 6129463 [A/G] NM_001005181 OR56B4 EXON Missense_G152E exm884446 11 6129487 [T/C] NM_001005181 OR56B4 EXON Missense_L160P exm884456 11 6129669 [T/A] NM_001005181 OR56B4 EXON Missense_F221I exm2218958 11 6129756 [T/C] NM_001005181 OR56B4 EXON Missense_H250Y exm884460 11 6129837 [T/C] NM_001005181 OR56B4 EXON Missense_P277S exm884468 11 6129964 [A/G] NM_001005181 OR56B4 EXON Missense_K319R exm-rs325687 11 6179462 [T/C] exm884473 11 6190634 [A/C] NM_001004052 OR52B2 EXON Missense_R308L exm884474 11 6190635 [A/G] NM_001004052 OR52B2 EXON Missense_R308W exm884479 11 6190754 [T/C] NM_001004052 OR52B2 EXON Missense_R268H exm884481 11 6190803 [T/A] NM_001004052 OR52B2 EXON Missense_M252L exm884483 11 6190828 [T/A] NM_001004052 OR52B2 EXON Nonsense_C243X exm884484 11 6190850 [T/C] NM_001004052 OR52B2 EXON Missense_R236Q exm884486 11 6190854 [T/C] NM_001004052 OR52B2 EXON Missense_A235T exm884489 11 6190872 [A/G] NM_001004052 OR52B2 EXON Missense_R229C exm884496 11 6190995 [A/G] NM_001004052 OR52B2 EXON Missense_R188C exm884499 11 6191100 [A/G] NM_001004052 OR52B2 EXON Nonsense_R153X exm884504 11 6191243 [T/A] NM_001004052 OR52B2 EXON Missense_F105Y exm884514 11 6191393 [T/C] NM_001004052 OR52B2 EXON Missense_R55H exm884517 11 6191420 [A/G] NM_001004052 OR52B2 EXON Missense_I46T exm884521 11 6191528 [T/C] NM_001004052 OR52B2 EXON Missense_H10R exm884522 11 6191531 [A/G] NM_001004052 OR52B2 EXON Missense_F9S exm884531 11 6220605 [T/C] NM_001005178 OR52W1 EXON Missense_P51L exm884538 11 6220713 [T/C] NM_001005178 OR52W1 EXON Missense_L87P exm884545 11 6220820 [A/G] NM_001005178 OR52W1 EXON Missense_M123V exm884560 11 6221169 [A/G] NM_001005178 OR52W1 EXON Missense_H239R exm884562 11 6221196 [T/C] NM_001005178 OR52W1 EXON Missense_S248F exm884564 11 6221214 [A/T] NM_001005178 OR52W1 EXON Missense_L254Q exm884567 11 6221244 [A/G] NM_001005178 OR52W1 EXON Missense_Y264C exm884568 11 6221249 [A/G] NM_001005178 OR52W1 EXON Missense_T266A exm884570 11 6221253 [A/G] NM_001005178 OR52W1 EXON Missense_H267R exm884576 11 6221358 [C/G] NM_001005178 OR52W1 EXON Missense_T302S exm884577 11 6221376 [A/G] NM_001005178 OR52W1 EXON Missense_R308Q exm884587 11 6231137 [A/G] NM_173525 C11orf42 EXON Missense_A44T exm884598 11 6231378 [A/G] NM_173525 C11orf42 EXON Missense_R124H exm884599 11 6231464 [T/C] NM_173525 C11orf42 EXON Missense_L153F exm884600 11 6231468 [A/G] NM_173525 C11orf42 EXON Missense_R154Q exm884602 11 6231510 [T/G] NM_173525 C11orf42 EXON Missense_C168F exm884605 11 6231572 [T/C] NM_173525 C11orf42 EXON Missense_R189W exm1725241 11 6232752 [T/C] NM_032127,NM_001098794 FAM160A2,FAM160A2 EXON Missense_G982E,Missense_G968E exm884642 11 6232932 [T/C] NM_032127,NM_001098794 FAM160A2,FAM160A2 EXON Missense_R922Q,Missense_R908Q exm884643 11 6232933 [A/G] NM_032127,NM_001098794 FAM160A2,FAM160A2 EXON Missense_R922W,Missense_R908W exm884646 11 6232998 [T/C] NM_032127,NM_001098794 FAM160A2,FAM160A2 EXON Missense_R900Q,Missense_R886Q exm1725254 11 6233097 [A/C] NM_032127,NM_001098794 FAM160A2,FAM160A2 EXON Missense_V867G,Missense_V853G exm884664 11 6236131 [T/C] NM_032127,NM_001098794 FAM160A2,FAM160A2 EXON Missense_M756I,Missense_M742I exm884667 11 6238637 [A/G] NM_032127,NM_001098794 FAM160A2,FAM160A2 EXON Missense_R741W,Missense_R727W exm884671 11 6238691 [T/C] NM_032127,NM_001098794 FAM160A2,FAM160A2 EXON Missense_E723K,Missense_E709K exm884676 11 6238780 [T/C] NM_032127,NM_001098794 FAM160A2,FAM160A2 EXON Missense_R693Q,Missense_R679Q exm884681 11 6238844 [T/C] NM_032127,NM_001098794 FAM160A2,FAM160A2 EXON Missense_G672R,Missense_G658R exm884682 11 6238856 [T/G] NM_032127,NM_001098794 FAM160A2,FAM160A2 EXON Missense_K668Q,Missense_K654Q exm2219003 11 6238871 [A/C] NM_032127,NM_001098794 FAM160A2,FAM160A2 EXON Missense_V663F,Missense_V649F exm884697 11 6239194 [A/G] NM_032127,NM_001098794 FAM160A2,FAM160A2 EXON Missense_A555V,Missense_A541V exm884708 11 6239315 [A/G] NM_032127,NM_001098794 FAM160A2,FAM160A2 EXON Missense_R515C,Missense_R501C exm884711 11 6239344 [A/G] NM_032127,NM_001098794 FAM160A2,FAM160A2 EXON Missense_T505M,Missense_T491M exm884716 11 6239790 [A/G] NM_032127,NM_001098794 FAM160A2,FAM160A2 EXON Missense_T492M,Silent exm884717 11 6239828 [A/C] NM_032127,NM_001098794 FAM160A2,FAM160A2 EXON Synonymous_G479G,Silent exm884720 11 6239857 [A/G] NM_032127,NM_001098794 FAM160A2,FAM160A2 EXON Missense_R470C,Missense_R470C exm884724 11 6239890 [A/G] NM_032127,NM_001098794 FAM160A2,FAM160A2 EXON Missense_R459C,Missense_R459C exm884725 11 6239952 [A/G] NM_032127,NM_001098794 FAM160A2,FAM160A2 EXON Missense_P438L,Missense_P438L exm884742 11 6244323 [T/C] NM_032127,NM_001098794 FAM160A2,FAM160A2 EXON Missense_N308S,Missense_N308S exm884749 11 6244863 [T/C] NM_032127,NM_001098794 FAM160A2,FAM160A2 EXON Missense_A252T,Missense_A252T exm884751 11 6244872 [A/G] NM_032127,NM_001098794 FAM160A2,FAM160A2 EXON Missense_R249C,Missense_R249C exm884754 11 6244974 [A/G] NM_032127,NM_001098794 FAM160A2,FAM160A2 EXON Missense_R215C,Missense_R215C exm884759 11 6245013 [A/G] NM_032127,NM_001098794 FAM160A2,FAM160A2 EXON Missense_P202S,Missense_P202S exm884761 11 6245088 [T/C] NM_032127,NM_001098794 FAM160A2,FAM160A2 EXON Missense_V177M,Missense_V177M exm884765 11 6245127 [A/G] NM_032127,NM_001098794 FAM160A2,FAM160A2 EXON Missense_R164C,Missense_R164C exm884775 11 6245256 [T/C] NM_032127,NM_001098794 FAM160A2,FAM160A2 EXON Missense_D121N,Missense_D121N exm884780 11 6245421 [A/G] NM_032127,NM_001098794 FAM160A2,FAM160A2 EXON Missense_L66F,Missense_L66F exm884783 11 6245448 [A/G] NM_032127,NM_001098794 FAM160A2,FAM160A2 EXON Missense_R57W,Missense_R57W exm884803 11 6261307 [T/C] NM_001037329 CNGA4 EXON Nonsense_Q95X exm884806 11 6261421 [A/G] NM_001037329 CNGA4 EXON Missense_G133S exm884807 11 6261425 [T/C] NM_001037329 CNGA4 EXON Missense_P134L exm884815 11 6261493 [A/G] NM_001037329 CNGA4 EXON Missense_T157A exm1726009 11 6261502 [T/C] NM_001037329 CNGA4 EXON Missense_R160C exm2219034 11 6261544 [G/C] NM_001037329 CNGA4 EXON Missense_L174V exm884819 11 6261667 [T/C] NM_001037329 CNGA4 EXON Missense_R215W exm884839 11 6262729 [A/G] NM_001037329 CNGA4 EXON Missense_R329Q exm884842 11 6262777 [A/G] NM_001037329 CNGA4 EXON Missense_R345Q exm884849 11 6262848 [T/C] NM_001037329 CNGA4 EXON Missense_Y369H exm884855 11 6262909 [A/G] NM_001037329 CNGA4 EXON Missense_R389Q exm884857 11 6262926 [A/G] NM_001037329 CNGA4 EXON Missense_V395M exm884858 11 6262937 [T/G] NM_001037329 CNGA4 EXON Missense_D398E exm884865 11 6265242 [C/G] NM_001037329 CNGA4 EXON Missense_C444S exm884868 11 6265373 [A/G] NM_001037329 CNGA4 EXON Missense_A488T exm884871 11 6265404 [A/G] NM_001037329 CNGA4 EXON Missense_R498Q exm884872 11 6265420 [T/G] NM_001037329 CNGA4 EXON Missense_Q503H exm884874 11 6265449 [A/G] NM_001037329 CNGA4 EXON Missense_R513H exm884877 11 6265475 [A/G] NM_001037329 CNGA4 EXON Missense_A522T exm884883 11 6265533 [T/G] NM_001037329 CNGA4 EXON Missense_M541R exm884887 11 6265569 [A/T] NM_001037329 CNGA4 EXON Missense_E553V exm884890 11 6265620 [A/G] NM_001037329 CNGA4 EXON Missense_G570E exm884896 11 6281291 [T/C] NM_176875 CCKBR EXON Missense_R45C exm1726293 11 6291064 [T/C] NM_176875 CCKBR EXON Missense_A106V exm884911 11 6291387 [A/G] NM_176875 CCKBR EXON Missense_R158Q exm884917 11 6291516 [A/G] NM_176875 CCKBR EXON Missense_R201H exm2219047 11 6291558 [A/G] NM_176875 CCKBR EXON Missense_R215H exm884925 11 6292001 [A/G] NM_176875 CCKBR EXON Missense_Q260R exm884963 11 6292766 [T/C] NM_176875 CCKBR EXON Missense_P446L exm2264442 11 6322284 [A/C] exm884967 11 6340416 [A/G] NM_145040 PRKCDBP EXON Missense_L255F exm884973 11 6340496 [A/T] NM_145040 PRKCDBP EXON Missense_L228Q exm884984 11 6340611 [A/G] NM_145040 PRKCDBP EXON Nonsense_R190X exm884990 11 6340706 [A/G] NM_145040 PRKCDBP EXON Missense_L158P exm885009 11 6341504 [G/C] NM_145040 PRKCDBP EXON Missense_S68T exm2250113 11 6341593 [A/C] NM_145040 PRKCDBP EXON Synonymous_T38T exm885019 11 6341684 [G/C] NM_145040 PRKCDBP EXON Missense_R8P exm885021 11 6411836 [A/G] NM_000543,NM_001007593 SMPD1,SMPD1 EXON Missense_R3H,Missense_R3H exm885024 11 6411927 [A/G] NM_000543,NM_001007593 SMPD1,SMPD1 EXON Missense_M33I,Missense_M33I exm885042 11 6412632 [T/C] NM_000543,NM_001007593 SMPD1,SMPD1 EXON Missense_R113C,Missense_R112C exm885043 11 6412635 [A/G] NM_000543,NM_001007593 SMPD1,SMPD1 EXON Missense_V114M,Missense_V113M exm885044 11 6412644 [A/G] NM_000543,NM_001007593 SMPD1,SMPD1 EXON Missense_V117M,Missense_V116M exm885052 11 6412854 [T/C] NM_000543,NM_001007593 SMPD1,SMPD1 EXON Missense_P187S,Missense_P186S exm2250126 11 6412931 [T/C] NM_000543,NM_001007593 SMPD1,SMPD1 EXON Synonymous_D212D,Synonymous_D211D exm885054 11 6412984 [A/G] NM_000543,NM_001007593 SMPD1,SMPD1 EXON Missense_R230H,Missense_R229H exm885057 11 6413014 [A/G] NM_000543,NM_001007593 SMPD1,SMPD1 EXON Missense_R240Q,Missense_R239Q exm885067 11 6413167 [A/G] NM_000543,NM_001007593 SMPD1,SMPD1 EXON Missense_R291H,Missense_R290H exm885069 11 6413182 [A/G] NM_000543,NM_001007593 SMPD1,SMPD1 EXON Missense_R296Q,Missense_R295Q exm885070 11 6413185 [T/C] NM_000543,NM_001007593 SMPD1,SMPD1 EXON Missense_A297V,Missense_A296V exm885072 11 6413196 [A/G] NM_000543,NM_001007593 SMPD1,SMPD1 EXON Missense_V301I,Missense_V300I exm885075 11 6413286 [T/C] NM_000543,NM_001007593 SMPD1,SMPD1 EXON Missense_P331S,Missense_P330S exm885076 11 6413290 [G/C] NM_000543,NM_001007593 SMPD1,SMPD1 EXON Missense_P332R,Missense_P331R exm885093 11 6414580 [T/G] NM_000543,NM_001007593 SMPD1,SMPD1 EXON Missense_V409G,Missense_V408G exm885098 11 6414910 [C/G] NM_000543,NM_001007593 SMPD1,SMPD1 EXON Missense_R443G,Missense_R442G exm885105 11 6415245 [T/C] NM_000543,NM_001007593 SMPD1,SMPD1 EXON Missense_A487V,Missense_A486V exm885106 11 6415259 [A/G] NM_000543,NM_001007593 SMPD1,SMPD1 EXON Missense_G492S,Missense_G491S exm885111 11 6415463 [A/G] NM_000543,NM_001007593 SMPD1,SMPD1 EXON Missense_G508R,Missense_G507R exm885112 11 6415475 [A/G] NM_000543,NM_001007593 SMPD1,SMPD1 EXON Missense_V512M,Missense_V511M exm885116 11 6415530 [G/C] NM_000543,NM_001007593 SMPD1,SMPD1 EXON Missense_G530A,Missense_G529A exm885117 11 6415539 [T/C] NM_000543,NM_001007593 SMPD1,SMPD1 EXON Missense_P533L,Missense_P532L exm885118 11 6415566 [A/G] NM_000543,NM_001007593 SMPD1,SMPD1 EXON Missense_R542Q,Missense_R541Q exm885124 11 6415616 [A/G] NM_000543,NM_001007593 SMPD1,SMPD1 EXON Missense_V559I,Missense_V558I exm885130 11 6415704 [T/C] NM_000543,NM_001007593 SMPD1,SMPD1 EXON Missense_T588M,Missense_T587M exm885131 11 6415713 [A/G] NM_000543,NM_001007593 SMPD1,SMPD1 EXON Missense_R591H,Missense_R590H exm885151 11 6417164 [A/C] NM_145689,NM_001257320,NM_001257323,NM_001164,NM_001257325,NM_001257321,NM_001257326,NM_001257319,NR_047512 APBB1,APBB1,APBB1,APBB1,APBB1,APBB1,APBB1,APBB1,APBB1 EXON Missense_V604G,Missense_V347G,Missense_V384G,Missense_V606G,Missense_V371G,Missense_V347G,Missense_V347G,Missense_V386G,Silent exm885157 11 6422240 [T/C] NM_145689,NM_001257320,NM_001257323,NM_001164,NM_001257325,NM_001257321,NM_001257326,NM_001257319,NR_047512 APBB1,APBB1,APBB1,APBB1,APBB1,APBB1,APBB1,APBB1,APBB1 EXON Missense_V549I,Missense_V292I,Missense_V329I,Missense_V551I,Missense_V316I,Missense_V292I,Missense_V292I,Missense_V331I,Silent exm885168 11 6422898 [T/C] NM_145689,NM_001257320,NM_001257323,NM_001164,NM_001257325,NM_001257321,NM_001257326,NM_001257319,NR_047512,NM_001257322,NM_001257324 APBB1,APBB1,APBB1,APBB1,APBB1,APBB1,APBB1,APBB1,APBB1,APBB1,APBB1 EXON Missense_R468H,Missense_R211H,Missense_R248H,Missense_R470H,Missense_R235H,Missense_R211H,Missense_R211H,Missense_R250H,Silent,Missense_R250H,Missense_R211H exm885177 11 6423343 [A/G] NM_145689,NM_001257320,NM_001257323,NM_001164,NM_001257325,NM_001257321,NM_001257326,NM_001257319,NR_047512,NM_001257322,NM_001257324 APBB1,APBB1,APBB1,APBB1,APBB1,APBB1,APBB1,APBB1,APBB1,APBB1,APBB1 EXON Missense_R451C,Missense_R192C,Missense_R231C,Missense_R451C,Missense_R216C,Missense_R192C,Missense_R192C,Missense_R231C,Silent,Missense_R231C,Missense_R192C exm885179 11 6423363 [C/G] NM_145689,NM_001257320,NM_001257323,NM_001164,NM_001257325,NM_001257321,NM_001257326,NM_001257319,NR_047512,NM_001257322,NM_001257324 APBB1,APBB1,APBB1,APBB1,APBB1,APBB1,APBB1,APBB1,APBB1,APBB1,APBB1 EXON Missense_A444G,Missense_A185G,Missense_A224G,Missense_A444G,Missense_A209G,Missense_A185G,Missense_A185G,Missense_A224G,Silent,Missense_A224G,Missense_A185G exm2219099 11 6423375 [C/G] NM_145689,NM_001257320,NM_001257323,NM_001164,NM_001257325,NM_001257321,NM_001257326,NM_001257319,NR_047512,NM_001257322,NM_001257324 APBB1,APBB1,APBB1,APBB1,APBB1,APBB1,APBB1,APBB1,APBB1,APBB1,APBB1 EXON Missense_A440G,Missense_A181G,Missense_A220G,Missense_A440G,Missense_A205G,Missense_A181G,Missense_A181G,Missense_A220G,Silent,Missense_A220G,Missense_A181G exm1727637 11 6423826 [T/C] NM_145689,NM_001257320,NM_001257323,NM_001164,NM_001257325,NM_001257321,NM_001257326,NM_001257319,NR_047512,NM_001257322,NM_001257324 APBB1,APBB1,APBB1,APBB1,APBB1,APBB1,APBB1,APBB1,APBB1,APBB1,APBB1 EXON Missense_M412V,Missense_M153V,Missense_M192V,Missense_M412V,Missense_M177V,Missense_M153V,Missense_M153V,Missense_M192V,Silent,Missense_M192V,Missense_M153V exm885205 11 6424610 [T/C] NM_145689,NM_001257320,NM_001257323,NM_001164,NM_001257325,NM_001257321,NM_001257326,NM_001257319,NR_047512,NM_001257322,NM_001257324 APBB1,APBB1,APBB1,APBB1,APBB1,APBB1,APBB1,APBB1,APBB1,APBB1,APBB1 EXON Missense_M327V,Missense_M68V,Missense_M107V,Missense_M327V,Missense_M92V,Missense_M68V,Missense_M68V,Missense_M107V,Silent,Missense_M107V,Missense_M68V exm885214 11 6424903 [G/C] NM_145689,NM_001257320,NM_001257323,NM_001164,NM_001257325,NM_001257321,NM_001257326,NM_001257319,NR_047512,NM_001257322,NM_001257324 APBB1,APBB1,APBB1,APBB1,APBB1,APBB1,APBB1,APBB1,APBB1,APBB1,APBB1 EXON Missense_G291R,Missense_G32R,Missense_G71R,Missense_G291R,Missense_G56R,Missense_G32R,Missense_G32R,Missense_G71R,Silent,Missense_G71R,Missense_G32R exm885220 11 6425014 [T/C] NM_145689,NM_001257320,NM_001257323,NM_001164,NM_001257325,NM_001257321,NM_001257326,NM_001257319,NR_047512,NM_001257322,NM_001257324 APBB1,APBB1,APBB1,APBB1,APBB1,APBB1,APBB1,APBB1,APBB1,APBB1,APBB1 EXON Missense_D254N,Silent,Missense_D34N,Missense_D254N,Missense_D19N,Silent,Silent,Missense_D34N,Silent,Missense_D34N,Silent exm885222 11 6425022 [A/G] NM_145689,NM_001257320,NM_001257323,NM_001164,NM_001257325,NM_001257321,NM_001257326,NM_001257319,NR_047512,NM_001257322,NM_001257324 APBB1,APBB1,APBB1,APBB1,APBB1,APBB1,APBB1,APBB1,APBB1,APBB1,APBB1 EXON Missense_T251M,Silent,Missense_T31M,Missense_T251M,Missense_T16M,Silent,Silent,Missense_T31M,Silent,Missense_T31M,Silent exm885240 11 6432186 [T/C] NM_145689,NM_001164,NR_047512,NM_001257324 APBB1,APBB1,APBB1,APBB1 EXON Missense_G131D,Missense_G131D,Silent,Silent exm885244 11 6432229 [A/T] NM_145689,NM_001164,NR_047512,NM_001257324 APBB1,APBB1,APBB1,APBB1 EXON Missense_Y117N,Missense_Y117N,Silent,Silent exm885247 11 6432291 [A/G] NM_145689,NM_001164,NR_047512,NM_001257324 APBB1,APBB1,APBB1,APBB1 EXON Missense_A96V,Missense_A96V,Silent,Silent exm885251 11 6432427 [A/G] NM_145689,NM_001164,NR_047512,NM_001257324 APBB1,APBB1,APBB1,APBB1 EXON Missense_R51C,Missense_R51C,Silent,Silent exm1727661 11 6432571 [T/C] NM_145689,NM_001164,NR_047512,NM_001257324 APBB1,APBB1,APBB1,APBB1 EXON Missense_V3I,Missense_V3I,Silent,Silent exm885275 11 6452695 [A/G] NM_000613 HPX EXON Missense_R379W exm885277 11 6452698 [A/G] NM_000613 HPX EXON Missense_R378W exm885281 11 6452889 [A/G] NM_000613 HPX EXON Missense_R371W exm885293 11 6453232 [T/C] NM_000613 HPX EXON Missense_R284H exm885296 11 6458299 [T/G] NM_000613 HPX EXON Missense_H271P exm885299 11 6458311 [A/G] NM_000613 HPX EXON Missense_T267M exm1728048 11 6458344 [T/C] NM_000613 HPX EXON Missense_R256H exm885305 11 6458398 [T/C] NM_000613 HPX EXON Missense_H238R exm885311 11 6458751 [A/G] NM_000613 HPX EXON Missense_R208C exm885313 11 6458783 [T/C] NM_000613 HPX EXON Missense_R197H exm885315 11 6458835 [C/G] NM_000613 HPX EXON Missense_R180G exm885320 11 6458852 [A/G] NM_000613 HPX EXON Missense_T174M exm885323 11 6459601 [T/C] NM_000613 HPX EXON Missense_V159I exm885336 11 6461484 [A/G] NM_000613 HPX EXON Missense_R83W exm885348 11 6461926 [T/C] NM_000613 HPX EXON Missense_T40A exm885351 11 6462110 [T/C] NM_000613 HPX Silent exm885352 11 6462130 [T/C] NM_000613 HPX EXON Missense_I22V exm885356 11 6462175 [T/C] NM_000613 HPX EXON Missense_A7T exm885435 11 6479317 [A/G] NM_033278,NM_001248007,NM_001248006,NM_006458 TRIM3,TRIM3,TRIM3,TRIM3 EXON Missense_S114F,Silent,Missense_S114F,Missense_S114F exm1728812 11 6499021 [T/C] NM_012402,NM_001242854,NM_001242856,NM_001242855 ARFIP2,ARFIP2,ARFIP2,ARFIP2 EXON Missense_Q266R,Missense_Q299R,Missense_Q181R,Missense_Q228R exm1728816 11 6499372 [T/C] NM_012402,NM_001242854,NM_001242856,NM_001242855 ARFIP2,ARFIP2,ARFIP2,ARFIP2 EXON Synonymous_T198T,Synonymous_T231T,Synonymous_T113T,Synonymous_T160T exm885473 11 6500093 [A/G] NM_012402,NM_001242854,NM_001242856,NM_001242855 ARFIP2,ARFIP2,ARFIP2,ARFIP2 EXON Missense_R138C,Missense_R171C,Missense_R53C,Missense_R100C exm885493 11 6501634 [T/C] NM_012402,NM_001242854,NM_001242856,NM_001242855 ARFIP2,ARFIP2,ARFIP2,ARFIP2 EXON Synonymous_L6L,Synonymous_L6L,Silent,Silent exm1728837 11 6503044 [A/G] NM_012192 TIMM10B EXON Missense_V33M exm885513 11 6503335 [T/G] NM_012192 TIMM10B EXON Missense_A66S exm885521 11 6503449 [T/G] NM_012192 TIMM10B EXON Missense_X104E exm885526 11 6519453 [T/C] NM_144666,NM_173589 DNHD1,DNHD1 EXON Missense_P3L,Missense_P3L exm2277008 11 6519491 [T/C] NM_144666,NM_173589 DNHD1,DNHD1 EXON Missense_S16P,Missense_S16P exm885534 11 6519561 [A/G] NM_144666,NM_173589 DNHD1,DNHD1 EXON Missense_Q39R,Missense_Q39R exm885537 11 6519642 [A/G] NM_144666,NM_173589 DNHD1,DNHD1 EXON Missense_R66Q,Missense_R66Q exm885543 11 6519818 [G/C] NM_144666,NM_173589 DNHD1,DNHD1 EXON Missense_D125H,Missense_D125H exm885548 11 6520002 [A/G] NM_144666,NM_173589 DNHD1,DNHD1 EXON Missense_R186Q,Missense_R186Q exm1728996 11 6520122 [T/C] NM_144666,NM_173589 DNHD1,DNHD1 EXON Missense_I226T,Missense_I226T exm885555 11 6520164 [A/T] NM_144666,NM_173589 DNHD1,DNHD1 EXON Missense_V240E,Missense_V240E exm885558 11 6524020 [T/G] NM_144666,NM_173589 DNHD1,DNHD1 EXON Missense_F262V,Missense_F262V exm885560 11 6524072 [A/C] NM_144666,NM_173589 DNHD1,DNHD1 EXON Missense_Q279P,Missense_Q279P exm1729004 11 6524126 [A/G] NM_144666,NM_173589 DNHD1,DNHD1 EXON Missense_Y297C,Missense_Y297C exm885562 11 6524134 [A/G] NM_144666,NM_173589 DNHD1,DNHD1 EXON Missense_V300M,Missense_V300M exm885571 11 6530138 [A/G] NM_144666,NM_173589 DNHD1,DNHD1 EXON Missense_D317N,Missense_D317N exm885572 11 6530139 [A/G] NM_144666,NM_173589 DNHD1,DNHD1 EXON Missense_D317G,Missense_D317G exm885573 11 6530180 [T/A] NM_144666,NM_173589 DNHD1,DNHD1 EXON Missense_I331F,Missense_I331F exm885578 11 6530298 [A/G] NM_144666,NM_173589 DNHD1,DNHD1 EXON Missense_R370H,Missense_R370H exm885580 11 6530392 [T/C] NM_144666,NM_173589 DNHD1,DNHD1 EXON Synonymous_C375C,Synonymous_C375C exm885582 11 6530427 [A/G] NM_144666,NM_173589 DNHD1,DNHD1 EXON Missense_R387Q,Missense_R387Q exm885583 11 6530433 [A/G] NM_144666,NM_173589 DNHD1,DNHD1 EXON Missense_Q389R,Missense_Q389R exm885584 11 6530451 [A/G] NM_144666,NM_173589 DNHD1,DNHD1 EXON Missense_H395R,Missense_H395R exm885587 11 6532519 [T/C] NM_144666,NM_173589 DNHD1,DNHD1 EXON Missense_H418Y,Missense_H418Y exm885590 11 6532559 [A/G] NM_144666,NM_173589 DNHD1,DNHD1 EXON Missense_Y431C,Missense_Y431C exm885596 11 6532625 [A/G] NM_144666,NM_173589 DNHD1,DNHD1 EXON Missense_R453H,Missense_R453H exm885609 11 6541225 [C/G] NM_144666,NM_173589 DNHD1,DNHD1 EXON Missense_Q560E,Missense_Q560E exm885616 11 6549779 [A/C] NM_144666 DNHD1 EXON Missense_D622A exm885622 11 6549995 [A/G] NM_144666 DNHD1 EXON Missense_N694S exm885623 11 6550004 [A/G] NM_144666 DNHD1 EXON Missense_Q697R exm885626 11 6550219 [A/C] NM_144666 DNHD1 EXON Missense_P739T exm885629 11 6550309 [A/G] NM_144666 DNHD1 EXON Missense_G769R exm885635 11 6554941 [A/C] NM_144666 DNHD1 EXON Missense_L846M exm885638 11 6554966 [A/G] NM_144666 DNHD1 EXON Missense_R854Q exm885641 11 6555163 [A/G] NM_144666 DNHD1 EXON Missense_S920G exm885644 11 6555244 [T/G] NM_144666 DNHD1 EXON Nonsense_E947X exm885650 11 6555365 [A/G] NM_144666 DNHD1 EXON Missense_D987G exm885652 11 6559642 [T/C] NM_144666 DNHD1 EXON Missense_C1010R exm885675 11 6565458 [A/G] NM_144666 DNHD1 EXON Missense_A1246T exm885682 11 6566229 [A/G] NM_144666 DNHD1 EXON Missense_A1354T exm885684 11 6566249 [C/G] NM_144666 DNHD1 EXON Missense_F1360L exm885695 11 6566820 [T/C] NM_144666 DNHD1 EXON Missense_R1551W exm885696 11 6566821 [A/G] NM_144666 DNHD1 EXON Missense_R1551Q exm885697 11 6566823 [T/G] NM_144666 DNHD1 EXON Missense_A1552S exm2219214 11 6566955 [A/C] NM_144666 DNHD1 EXON Missense_L1596I exm885702 11 6567310 [T/C] NM_144666 DNHD1 EXON Missense_S1714L exm885705 11 6567433 [A/G] NM_144666 DNHD1 EXON Missense_R1755H exm885709 11 6567591 [T/C] NM_144666 DNHD1 EXON Missense_R1808C exm885710 11 6567826 [A/G] NM_144666 DNHD1 EXON Missense_R1886Q exm885712 11 6567857 [C/G] NM_144666 DNHD1 EXON Missense_K1896N exm885718 11 6567907 [A/G] NM_144666 DNHD1 EXON Missense_R1913H exm2250158 11 6568073 [T/C] NM_144666 DNHD1 EXON Synonymous_S1968S exm885723 11 6568073 [T/C] NM_144666 DNHD1 EXON Synonymous_S1968S exm885725 11 6568213 [T/C] NM_144666 DNHD1 EXON Missense_M2015T exm885726 11 6568233 [C/G] NM_144666 DNHD1 EXON Missense_G2022R exm885727 11 6568278 [A/G] NM_144666 DNHD1 EXON Missense_S2037G exm885728 11 6568290 [T/C] NM_144666 DNHD1 EXON Missense_F2041L exm885734 11 6568667 [T/C] NM_144666 DNHD1 EXON Synonymous_Y2166Y exm885743 11 6568833 [T/C] NM_144666 DNHD1 EXON Missense_R2222C exm885744 11 6568866 [T/C] NM_144666 DNHD1 EXON Missense_R2233C exm885756 11 6570071 [A/G] NM_144666 DNHD1 EXON Missense_G2432D exm885757 11 6570148 [T/C] NM_144666 DNHD1 EXON Missense_H2458Y exm2250161 11 6578004 [A/G] NM_144666 DNHD1 EXON Synonymous_T2493T exm885767 11 6578188 [T/C] NM_144666 DNHD1 EXON Missense_R2555W exm885769 11 6578343 [T/C] NM_144666 DNHD1 EXON Synonymous_N2606N exm2250162 11 6578343 [T/C] NM_144666 DNHD1 EXON Synonymous_N2606N exm885779 11 6578641 [A/C] NM_144666 DNHD1 EXON Missense_P2706T exm885783 11 6578788 [T/C] NM_144666 DNHD1 EXON Missense_P2755S exm885784 11 6578792 [T/C] NM_144666 DNHD1 EXON Missense_V2756A exm885787 11 6579106 [A/C] NM_144666 DNHD1 EXON Missense_H2861N exm885792 11 6579307 [T/C] NM_144666 DNHD1 EXON Nonsense_R2928X exm885800 11 6579777 [A/C] NM_144666 DNHD1 EXON Missense_H3022P exm885801 11 6579834 [T/C] NM_144666 DNHD1 EXON Missense_I3041T exm885814 11 6584290 [C/G] NM_144666 DNHD1 EXON Missense_E3200Q exm885817 11 6584666 [G/C] NM_144666 DNHD1 EXON Missense_E3242Q exm885819 11 6584705 [T/C] NM_144666 DNHD1 EXON Missense_R3255W exm885824 11 6584965 [A/C] NM_144666 DNHD1 EXON Missense_L3299M exm885825 11 6585007 [A/G] NM_144666 DNHD1 EXON Missense_D3313N exm885827 11 6585032 [A/G] NM_144666 DNHD1 EXON Missense_R3321Q exm885846 11 6585994 [A/T] NM_144666 DNHD1 EXON Missense_E3572D exm885847 11 6586929 [A/T] NM_144666 DNHD1 EXON Missense_K3587N exm885854 11 6587844 [T/G] NM_144666 DNHD1 EXON Missense_L3745R exm885863 11 6588159 [T/C] NM_144666 DNHD1 EXON Missense_P3807L exm885867 11 6588228 [A/G] NM_144666 DNHD1 EXON Missense_R3830H exm885879 11 6588647 [A/G] NM_144666 DNHD1 EXON Missense_S3970G exm885888 11 6588875 [A/G] NM_144666 DNHD1 EXON Missense_V4046I exm885889 11 6588881 [T/C] NM_144666 DNHD1 EXON Nonsense_R4048X exm1730190 11 6588944 [A/G] NM_144666 DNHD1 EXON Missense_D4069N exm885900 11 6589425 [T/C] NM_144666 DNHD1 EXON Missense_P4164L exm885902 11 6589683 [A/G] NM_144666 DNHD1 Silent exm1730196 11 6589961 [T/C] NM_144666 DNHD1 EXON Missense_I4243T exm885907 11 6590003 [A/C] NM_144666 DNHD1 EXON Missense_P4257H exm2219233 11 6590065 [A/G] NM_144666 DNHD1 EXON Missense_G4278R exm885912 11 6591306 [T/C] NM_144666 DNHD1 EXON Missense_R4311C exm885921 11 6591968 [A/G] NM_144666 DNHD1 EXON Missense_Q4409R exm885924 11 6592027 [T/C] NM_144666 DNHD1 EXON Nonsense_R4429X exm885926 11 6592054 [T/C] NM_144666 DNHD1 EXON Nonsense_R4438X exm885930 11 6592190 [A/G] NM_144666 DNHD1 EXON Missense_G4483D exm885931 11 6592198 [A/G] NM_144666 DNHD1 EXON Missense_E4486K exm885946 11 6592399 [G/C] NM_144666 DNHD1 EXON Missense_R4553G exm885947 11 6592409 [T/C] NM_144666 DNHD1 EXON Missense_S4556L exm885950 11 6592471 [T/C] NM_144666 DNHD1 EXON Missense_P4577S exm885952 11 6592514 [A/G] NM_144666 DNHD1 EXON Missense_R4591H exm1730209 11 6592592 [T/C] NM_144666 DNHD1 EXON Missense_S4617L exm885955 11 6592594 [T/G] NM_144666 DNHD1 EXON Missense_V4618F exm885960 11 6592951 [T/C] NM_144666 DNHD1 EXON Missense_I4666T exm885983 11 6621715 [T/C] NM_015324 RRP8 Silent exm886003 11 6622162 [T/C] NM_015324 RRP8 EXON Missense_M347I exm886004 11 6622185 [C/G] NM_015324 RRP8 EXON Missense_P340A exm886006 11 6622218 [A/G] NM_015324 RRP8 EXON Missense_P329S exm886009 11 6622241 [T/C] NM_015324 RRP8 EXON Missense_R321H exm886012 11 6622379 [T/C] NM_015324 RRP8 EXON Missense_R306Q exm886015 11 6622398 [T/C] NM_015324 RRP8 EXON Missense_A300T exm886017 11 6622403 [C/G] NM_015324 RRP8 EXON Missense_R298P exm886019 11 6622451 [T/C] NM_015324 RRP8 EXON Missense_R282H exm886029 11 6622601 [T/C] NM_015324 RRP8 EXON Missense_E232G exm886034 11 6622724 [T/C] NM_015324 RRP8 EXON Missense_R191Q exm886049 11 6623112 [G/C] NM_015324 RRP8 EXON Missense_A145P exm886062 11 6623316 [T/G] NM_015324 RRP8 EXON Missense_K77Q exm1730575 11 6623321 [A/C] NM_015324 RRP8 EXON Missense_C75F exm886065 11 6623433 [A/G] NM_015324 RRP8 EXON Missense_R38C exm886076 11 6624660 [A/G] NM_015324 RRP8 EXON Missense_P25S exm886084 11 6625566 [A/G] NM_004517,NM_001014794,NM_001014795 ILK,ILK,ILK EXON Missense_N22S,Missense_N22S,Missense_N22S exm886090 11 6629316 [C/G] NM_004517,NM_001014794,NM_001014795 ILK,ILK,ILK EXON Missense_E44Q,Missense_E44Q,Missense_E44Q exm886093 11 6629343 [T/A] NM_004517,NM_001014794,NM_001014795 ILK,ILK,ILK EXON Missense_L53M,Missense_L53M,Missense_L53M exm1730701 11 6630007 [A/C] NM_004517,NM_001014794,NM_001014795 ILK,ILK,ILK EXON Missense_R145S,Missense_R145S,Missense_R145S exm886110 11 6630132 [A/G] NM_004517,NM_001014794,NM_001014795 ILK,ILK,ILK EXON Missense_G156S,Missense_G156S,Missense_G156S exm886112 11 6630187 [A/G] NM_004517,NM_001014794,NM_001014795 ILK,ILK,ILK EXON Missense_R174H,Missense_R174H,Missense_R174H exm886120 11 6630542 [T/C] NM_004517,NM_001014794,NM_001014795 ILK,ILK,ILK EXON Missense_R211C,Missense_R211C,Missense_R211C exm886124 11 6630580 [T/G] NM_004517,NM_001014794,NM_001014795 ILK,ILK,ILK EXON Missense_K223N,Missense_K223N,Missense_K223N exm886125 11 6630618 [A/G] NM_004517,NM_001014794,NM_001014795 ILK,ILK,ILK EXON Missense_N236S,Missense_N236S,Missense_N236S exm886170 11 6633007 [A/G] NM_006284 TAF10 EXON Missense_I92T exm886183 11 6636122 [T/C] NM_000391 TPP1 EXON Missense_Q509R exm886189 11 6636431 [T/C] NM_000391 TPP1 EXON Missense_V466M exm886192 11 6636499 [T/C] NM_000391 TPP1 EXON Missense_N443S exm886194 11 6636520 [A/G] NM_000391 TPP1 EXON Missense_L436P exm886197 11 6636547 [A/G] NM_000391 TPP1 EXON Missense_T427M exm886201 11 6636686 [T/C] NM_000391 TPP1 EXON Missense_R418Q exm886202 11 6636687 [A/G] NM_000391 TPP1 EXON Missense_R418W exm886203 11 6636698 [A/T] NM_000391 TPP1 EXON Missense_N414I exm886220 11 6637588 [T/G] NM_000391 TPP1 EXON Missense_M345L exm886223 11 6637674 [T/G] NM_000391 TPP1 EXON Missense_A316D exm886228 11 6637982 [A/G] NM_000391 TPP1 EXON Missense_R266W exm886230 11 6638002 [T/C] NM_000391 TPP1 EXON Missense_R259H exm886235 11 6638340 [A/G] NM_000391 TPP1 EXON Missense_R185C exm886236 11 6638351 [A/G] NM_000391 TPP1 EXON Missense_S181F exm886240 11 6638385 [G/C] NM_000391 TPP1 Silent exm886251 11 6638918 [T/C] NM_000391 TPP1 EXON Missense_G107R exm886253 11 6638938 [T/C] NM_000391 TPP1 EXON Missense_Q100R exm886255 11 6638944 [A/G] NM_000391 TPP1 EXON Missense_T98M exm886265 11 6640051 [A/G] NM_000391 TPP1 EXON Missense_S62L exm886268 11 6640135 [T/C] NM_000391 TPP1 EXON Missense_G34D exm1730915 11 6640451 [A/C] NM_000391 TPP1 EXON Missense_S22I exm886284 11 6643110 [A/G] NM_003737 DCHS1 EXON Missense_P3266L exm886285 11 6643120 [T/C] NM_003737 DCHS1 EXON Missense_A3263T exm886314 11 6643935 [T/C] NM_003737 DCHS1 EXON Missense_R2991Q exm2250179 11 6643976 [T/C] NM_003737 DCHS1 EXON Synonymous_Q2977Q exm1730945 11 6644010 [T/C] NM_003737 DCHS1 EXON Missense_R2966H exm886327 11 6644149 [T/C] NM_003737 DCHS1 EXON Missense_V2920M exm886336 11 6644296 [A/G] NM_003737 DCHS1 EXON Missense_R2871W exm886337 11 6644308 [T/C] NM_003737 DCHS1 EXON Missense_A2867T exm886345 11 6644427 [C/G] NM_003737 DCHS1 EXON Missense_R2827P exm886356 11 6644643 [T/C] NM_003737 DCHS1 EXON Missense_R2755H exm1730952 11 6644644 [A/G] NM_003737 DCHS1 EXON Missense_R2755C exm886361 11 6644721 [A/T] NM_003737 DCHS1 EXON Missense_H2729L exm886365 11 6644788 [A/G] NM_003737 DCHS1 EXON Missense_P2707S exm886366 11 6644801 [A/C] NM_003737 DCHS1 EXON Missense_H2702Q exm886379 11 6645106 [A/C] NM_003737 DCHS1 EXON Missense_V2601F exm2219272 11 6645249 [T/C] NM_003737 DCHS1 EXON Missense_C2553Y exm2274459 11 6645369 [T/C] NM_003737 DCHS1 EXON Missense_R2513H exm886386 11 6645370 [A/G] NM_003737 DCHS1 EXON Missense_R2513C exm886391 11 6645459 [A/G] NM_003737 DCHS1 EXON Missense_T2483I exm886396 11 6645522 [T/C] NM_003737 DCHS1 EXON Missense_R2462Q exm886403 11 6646039 [A/G] NM_003737 DCHS1 EXON Missense_R2403W exm886404 11 6646054 [A/C] NM_003737 DCHS1 EXON Missense_V2398F exm886408 11 6646439 [A/C] NM_003737 DCHS1 EXON Missense_S2379I exm886409 11 6646499 [T/C] NM_003737 DCHS1 EXON Missense_R2359H exm886410 11 6646500 [A/G] NM_003737 DCHS1 EXON Missense_R2359C exm886415 11 6646584 [T/C] NM_003737 DCHS1 EXON Missense_V2331I exm886426 11 6647172 [T/C] NM_003737 DCHS1 EXON Missense_R2237H exm886429 11 6647238 [A/G] NM_003737 DCHS1 EXON Missense_P2215L exm886432 11 6647461 [T/A] NM_003737 DCHS1 EXON Missense_L2172Q exm886435 11 6647497 [A/G] NM_003737 DCHS1 EXON Missense_T2160I exm886438 11 6647554 [T/C] NM_003737 DCHS1 EXON Missense_R2141Q exm886443 11 6647597 [A/G] NM_003737 DCHS1 EXON Missense_R2127C exm886446 11 6647784 [T/C] NM_003737 DCHS1 EXON Synonymous_T2121T exm886450 11 6647875 [G/C] NM_003737 DCHS1 EXON Missense_R2091T exm886458 11 6648137 [A/G] NM_003737 DCHS1 EXON Missense_R2045C exm886463 11 6648200 [A/G] NM_003737 DCHS1 EXON Missense_R2024C exm886464 11 6648208 [T/C] NM_003737 DCHS1 EXON Missense_R2021H exm886467 11 6648298 [T/C] NM_003737 DCHS1 EXON Missense_R1991H exm886468 11 6648299 [T/G] NM_003737 DCHS1 EXON Missense_R1991S exm886469 11 6648332 [T/A] NM_003737 DCHS1 EXON Missense_T1980S exm886473 11 6648388 [A/G] NM_003737 DCHS1 EXON Missense_P1961L exm886477 11 6648424 [A/G] NM_003737 DCHS1 EXON Missense_T1949M exm2219276 11 6648481 [T/C] NM_003737 DCHS1 EXON Missense_S1930N exm886491 11 6648703 [T/G] NM_003737 DCHS1 EXON Missense_P1856H exm886493 11 6648727 [C/G] NM_003737 DCHS1 EXON Missense_A1848G exm886494 11 6648767 [A/G] NM_003737 DCHS1 EXON Missense_L1835F exm2219277 11 6649861 [A/G] NM_003737 DCHS1 EXON Missense_R1788C exm886498 11 6649895 [T/A] NM_003737 DCHS1 EXON Missense_D1776E exm886503 11 6650025 [A/G] NM_003737 DCHS1 EXON Missense_T1733M exm886504 11 6650684 [T/A] NM_003737 DCHS1 EXON Synonymous_T1720T exm2250183 11 6651000 [A/C] NM_003737 DCHS1 EXON Synonymous_A1646A exm886527 11 6651470 [A/G] NM_003737 DCHS1 EXON Missense_P1519S exm886559 11 6652550 [A/G] NM_003737 DCHS1 EXON Missense_T1255M exm2250184 11 6652627 [A/G] NM_003737 DCHS1 EXON Synonymous_R1229R exm886566 11 6652627 [A/G] NM_003737 DCHS1 EXON Synonymous_R1229R exm886567 11 6652628 [T/C] NM_003737 DCHS1 EXON Missense_R1229H exm2274460 11 6653280 [A/G] NM_003737 DCHS1 EXON Missense_R1155C exm886576 11 6653288 [T/C] NM_003737 DCHS1 EXON Missense_K1152R exm886580 11 6653373 [T/C] NM_003737 DCHS1 EXON Missense_V1124M exm886586 11 6653480 [A/G] NM_003737 DCHS1 EXON Missense_T1088I exm886588 11 6653558 [T/C] NM_003737 DCHS1 EXON Missense_R1062H exm886589 11 6653559 [G/C] NM_003737 DCHS1 EXON Missense_R1062G exm886592 11 6653585 [G/C] NM_003737 DCHS1 EXON Missense_W1053S exm886595 11 6653727 [A/G] NM_003737 DCHS1 EXON Missense_R1006C exm886596 11 6653747 [T/C] NM_003737 DCHS1 EXON Missense_R999Q exm886598 11 6653768 [T/C] NM_003737 DCHS1 EXON Missense_G992E exm886599 11 6653790 [A/G] NM_003737 DCHS1 EXON Missense_R985W exm886603 11 6653811 [A/G] NM_003737 DCHS1 EXON Missense_R978C exm886615 11 6654075 [T/C] NM_003737 DCHS1 EXON Missense_N890D exm886617 11 6654195 [A/G] NM_003737 DCHS1 EXON Missense_R850C exm886625 11 6654760 [T/C] NM_003737 DCHS1 EXON Missense_I780V exm886639 11 6655238 [G/C] NM_003737 DCHS1 EXON Missense_S667C exm886642 11 6655399 [C/G] NM_003737 DCHS1 EXON Missense_R646G exm886651 11 6661166 [A/G] NM_003737 DCHS1 EXON Missense_S560F exm886652 11 6661170 [A/C] NM_003737 DCHS1 EXON Missense_A559S exm886658 11 6661299 [T/C] NM_003737 DCHS1 EXON Missense_A516T exm886664 11 6661341 [C/G] NM_003737 DCHS1 EXON Missense_Q502E exm886665 11 6661352 [T/C] NM_003737 DCHS1 EXON Missense_R498Q exm886673 11 6661425 [A/G] NM_003737 DCHS1 EXON Missense_R474C exm886680 11 6661563 [A/G] NM_003737 DCHS1 EXON Missense_R428W exm886682 11 6661600 [T/G] NM_003737 DCHS1 EXON Missense_S415R exm886683 11 6661640 [T/C] NM_003737 DCHS1 EXON Missense_N402S exm886684 11 6661685 [T/C] NM_003737 DCHS1 EXON Missense_R387H exm1731248 11 6661787 [T/C] NM_003737 DCHS1 EXON Missense_R353Q exm886694 11 6661893 [A/G] NM_003737 DCHS1 EXON Missense_R318W exm886697 11 6661968 [T/C] NM_003737 DCHS1 EXON Missense_E293K exm886706 11 6662141 [T/C] NM_003737 DCHS1 EXON Missense_R235Q exm886707 11 6662144 [G/C] NM_003737 DCHS1 EXON Missense_P234R exm886710 11 6662249 [C/G] NM_003737 DCHS1 EXON Missense_P199R exm886711 11 6662255 [A/G] NM_003737 DCHS1 EXON Missense_P197L exm886716 11 6662342 [T/C] NM_003737 DCHS1 EXON Missense_R168H exm886720 11 6662466 [T/C] NM_003737 DCHS1 EXON Missense_V127I exm1731276 11 6662505 [A/G] NM_003737 DCHS1 EXON Missense_R114C exm886727 11 6662624 [C/G] NM_003737 DCHS1 EXON Missense_A74G exm886731 11 6662787 [A/G] NM_003737 DCHS1 EXON Missense_H20Y exm886743 11 6704036 [T/C] NM_022061 MRPL17 EXON Missense_Y62C exm2250193 11 6727468 [A/G] exm886802 11 6789257 [A/G] NM_001004490 OR2AG2 EXON Missense_L311P exm886806 11 6789287 [A/G] NM_001004490 OR2AG2 EXON Missense_L301S exm886821 11 6789492 [T/C] NM_001004490 OR2AG2 EXON Missense_G233R exm886822 11 6789510 [A/G] NM_001004490 OR2AG2 EXON Missense_R227C exm886826 11 6789617 [T/C] NM_001004490 OR2AG2 EXON Missense_D191G exm2250202 11 6789748 [T/C] NM_001004490 OR2AG2 EXON Synonymous_T147T exm886837 11 6789899 [T/C] NM_001004490 OR2AG2 EXON Missense_C97Y exm886840 11 6789929 [A/C] NM_001004490 OR2AG2 EXON Missense_R87L exm886848 11 6790028 [C/G] NM_001004490 OR2AG2 EXON Missense_R54P exm886850 11 6790044 [T/C] NM_001004490 OR2AG2 EXON Missense_I49V exm886851 11 6790106 [T/C] NM_001004490 OR2AG2 EXON Missense_Y28C exm886861 11 6806366 [A/T] NM_001004489 OR2AG1 EXON Missense_I33N exm886863 11 6806393 [A/G] NM_001004489 OR2AG1 EXON Missense_N42S exm886865 11 6806429 [A/G] NM_001004489 OR2AG1 EXON Missense_R54Q exm886872 11 6806540 [T/C] NM_001004489 OR2AG1 EXON Missense_T91I exm886883 11 6806690 [C/G] NM_001004489 OR2AG1 EXON Missense_C141S exm886887 11 6806749 [A/G] NM_001004489 OR2AG1 EXON Missense_V161M exm886890 11 6806801 [A/T] NM_001004489 OR2AG1 EXON Missense_L178H exm886892 11 6806827 [T/G] NM_001004489 OR2AG1 EXON Missense_V187L exm886895 11 6806930 [A/T] NM_001004489 OR2AG1 EXON Missense_I221N exm886897 11 6806972 [A/G] NM_001004489 OR2AG1 EXON Missense_K235R exm1732817 11 6807041 [T/C] NM_001004489 OR2AG1 EXON Missense_M258T exm1732818 11 6807052 [A/C] NM_001004489 OR2AG1 EXON Missense_P262T exm886904 11 6807103 [A/G] NM_001004489 OR2AG1 EXON Missense_T279A exm886912 11 6816036 [T/C] NM_003696 OR6A2 EXON Missense_V302I exm886915 11 6816047 [T/C] NM_003696 OR6A2 EXON Missense_R298H exm886916 11 6816048 [A/G] NM_003696 OR6A2 EXON Missense_R298C exm886921 11 6816128 [A/G] NM_003696 OR6A2 EXON Missense_S271L exm886926 11 6816182 [A/G] NM_003696 OR6A2 EXON Missense_V253A exm886929 11 6816236 [A/G] NM_003696 OR6A2 EXON Missense_S235L exm886931 11 6816252 [T/C] NM_003696 OR6A2 EXON Missense_V230M exm886937 11 6816317 [A/G] NM_003696 OR6A2 EXON Missense_A208V exm886939 11 6816350 [A/C] NM_003696 OR6A2 EXON Missense_M197R exm886950 11 6816579 [T/C] NM_003696 OR6A2 EXON Missense_A121T exm886952 11 6816581 [A/G] NM_003696 OR6A2 EXON Missense_L120P exm886954 11 6816619 [C/G] NM_003696 OR6A2 EXON Nonsense_Y107X exm886955 11 6816629 [A/G] NM_003696 OR6A2 EXON Missense_T104I exm886956 11 6816663 [A/G] NM_003696 OR6A2 EXON Missense_H93Y exm886963 11 6816792 [T/C] NM_003696 OR6A2 EXON Missense_I50V exm886965 11 6816818 [T/G] NM_003696 OR6A2 EXON Missense_T41N exm886966 11 6816830 [A/G] NM_003696 OR6A2 EXON Missense_V37A exm886967 11 6816872 [T/G] NM_003696 OR6A2 EXON Missense_P23Q exm886969 11 6816875 [A/G] NM_003696 OR6A2 EXON Missense_A22V exm886971 11 6816929 [T/C] NM_003696 OR6A2 EXON Missense_R4Q exm886977 11 6866980 [A/G] NM_178168 OR10A5 EXON Missense_E23K exm886978 11 6866999 [T/C] NM_178168 OR10A5 EXON Missense_F29S exm886980 11 6867035 [A/T] NM_178168 OR10A5 EXON Missense_K41M exm887007 11 6867337 [T/C] NM_178168 OR10A5 EXON Missense_R142W exm887024 11 6867602 [T/C] NM_178168 OR10A5 EXON Missense_P230L exm1733269 11 6867608 [G/C] NM_178168 OR10A5 EXON Missense_A232G exm887028 11 6867635 [T/C] NM_178168 OR10A5 EXON Missense_T241M exm887031 11 6867671 [A/G] NM_178168 OR10A5 EXON Missense_Y253C exm887032 11 6867697 [T/C] NM_178168 OR10A5 EXON Missense_W262R exm887034 11 6867748 [T/G] NM_178168 OR10A5 EXON Missense_Y279D exm887037 11 6867757 [A/G] NM_178168 OR10A5 EXON Missense_V282M exm887059 11 6891368 [A/G] NM_001004460 OR10A2 EXON Missense_R128H exm887060 11 6891371 [A/C] NM_001004460 OR10A2 EXON Missense_A129D exm2250212 11 6891528 [G/C] NM_001004460 OR10A2 EXON Synonymous_L181L exm887078 11 6891641 [A/C] NM_001004460 OR10A2 EXON Missense_K219T exm887081 11 6891682 [T/C] NM_001004460 OR10A2 EXON Missense_L233F exm887083 11 6891704 [T/C] NM_001004460 OR10A2 EXON Missense_I240T exm887084 11 6891726 [A/C] NM_001004460 OR10A2 EXON Missense_F247L exm887088 11 6891758 [A/C] NM_001004460 OR10A2 EXON Missense_K258T exm887112 11 6898188 [T/G] NM_207186 OR10A4 EXON Missense_F104V exm2219352 11 6898196 [A/C] NM_207186 OR10A4 EXON Missense_F106L exm887115 11 6898239 [T/A] NM_207186 OR10A4 EXON Missense_Y121N exm1733513 11 6898245 [T/C] NM_207186 OR10A4 EXON Missense_R123C exm887117 11 6898251 [A/G] NM_207186 OR10A4 EXON Missense_V125M exm887120 11 6898329 [T/C] NM_207186 OR10A4 EXON Missense_F151L exm887122 11 6898365 [T/C] NM_207186 OR10A4 EXON Missense_W163R exm887125 11 6898495 [T/C] NM_207186 OR10A4 EXON Missense_L206P exm887129 11 6898525 [T/G] NM_207186 OR10A4 EXON Missense_L216R exm887130 11 6898540 [A/G] NM_207186 OR10A4 EXON Missense_R221H exm887134 11 6898587 [A/C] NM_207186 OR10A4 EXON Missense_Q237K exm887135 11 6898608 [A/G] NM_207186 OR10A4 EXON Missense_A244T exm887137 11 6898614 [T/C] NM_207186 OR10A4 EXON Missense_L246F exm887142 11 6898704 [T/C] NM_207186 OR10A4 EXON Missense_S276P exm887143 11 6898714 [A/C] NM_207186 OR10A4 EXON Missense_S279Y exm887147 11 6898789 [A/G] NM_207186 OR10A4 EXON Missense_R304Q exm887151 11 6912827 [A/G] NM_003700 OR2D2 EXON Missense_V302A exm887155 11 6912893 [G/C] NM_003700 OR2D2 EXON Missense_T280S exm887165 11 6913073 [T/C] NM_003700 OR2D2 EXON Missense_R220H exm887167 11 6913127 [A/G] NM_003700 OR2D2 EXON Missense_M202T exm887171 11 6913188 [A/G] NM_003700 OR2D2 EXON Missense_P182S exm887174 11 6913243 [T/C] NM_003700 OR2D2 EXON Missense_I163M exm887175 11 6913244 [A/G] NM_003700 OR2D2 EXON Missense_I163T exm887176 11 6913250 [A/G] NM_003700 OR2D2 EXON Missense_T161I exm887178 11 6913281 [T/C] NM_003700 OR2D2 EXON Missense_S151G exm887180 11 6913290 [A/G] NM_003700 OR2D2 EXON Missense_S148P exm1733570 11 6913349 [T/C] NM_003700 OR2D2 EXON Missense_N128S exm887187 11 6913373 [T/G] NM_003700 OR2D2 EXON Missense_Y120S exm887193 11 6913440 [T/C] NM_003700 OR2D2 EXON Missense_A98T exm887198 11 6913482 [A/G] NM_003700 OR2D2 EXON Missense_H84Y exm887199 11 6913540 [T/G] NM_003700 OR2D2 EXON Nonsense_C64X exm887207 11 6913725 [A/G] NM_003700 OR2D2 EXON Nonsense_Q3X exm887214 11 6942395 [A/G] NM_001004684 OR2D3 EXON Missense_V55M exm887215 11 6942398 [T/C] NM_001004684 OR2D3 EXON Missense_L56F exm887220 11 6942476 [A/C] NM_001004684 OR2D3 EXON Missense_L82I exm887224 11 6942555 [T/C] NM_001004684 OR2D3 EXON Missense_I108T exm887235 11 6942695 [T/C] NM_001004684 OR2D3 EXON Missense_R155W exm887236 11 6942723 [T/C] NM_001004684 OR2D3 EXON Missense_S164F exm887237 11 6942726 [C/G] NM_001004684 OR2D3 EXON Missense_W165S exm887241 11 6942828 [C/G] NM_001004684 OR2D3 EXON Missense_A199G exm887242 11 6942830 [T/C] NM_001004684 OR2D3 EXON Missense_L200F exm887245 11 6942915 [T/C] NM_001004684 OR2D3 EXON Missense_S228F exm887260 11 6943130 [A/G] NM_001004684 OR2D3 EXON Missense_M300V exm887264 11 6943179 [T/C] NM_001004684 OR2D3 EXON Missense_A316V exm887275 11 6953597 [A/C] NM_013250 ZNF215 EXON Missense_Q32K exm887276 11 6953610 [A/G] NM_013250 ZNF215 EXON Missense_N36S exm887277 11 6953615 [A/G] NM_013250 ZNF215 EXON Missense_V38I exm1733798 11 6953856 [A/G] NM_013250 ZNF215 EXON Missense_D118G exm887283 11 6953858 [A/G] NM_013250 ZNF215 EXON Missense_M119V exm887284 11 6953859 [T/C] NM_013250 ZNF215 EXON Missense_M119T exm887285 11 6953869 [T/C] NM_013250 ZNF215 EXON Synonymous_L122L exm2250218 11 6953869 [T/C] NM_013250 ZNF215 EXON Synonymous_L122L exm887293 11 6962879 [T/C] NM_013250 ZNF215 EXON Missense_P160S exm887302 11 6964840 [T/G] NM_013250 ZNF215 EXON Missense_M227R exm887303 11 6964870 [T/C] NM_013250 ZNF215 EXON Missense_F237S exm887304 11 6964873 [A/G] NM_013250 ZNF215 Silent exm887308 11 6976984 [A/G] NM_013250 ZNF215 EXON Missense_S259N exm887311 11 6976996 [T/C] NM_013250 ZNF215 EXON Missense_S263F exm887315 11 6977031 [A/G] NM_013250 ZNF215 EXON Missense_R275G exm887320 11 6977070 [A/G] NM_013250 ZNF215 EXON Missense_A288T exm887325 11 6977175 [C/G] NM_013250 ZNF215 EXON Missense_V323L exm887327 11 6977212 [A/G] NM_013250 ZNF215 EXON Missense_D335G exm887329 11 6977311 [A/G] NM_013250 ZNF215 EXON Missense_R368Q exm887331 11 6977325 [A/C] NM_013250 ZNF215 EXON Missense_H373N exm887332 11 6977334 [A/G] NM_013250 ZNF215 EXON Missense_M376V exm887336 11 6977377 [A/G] NM_013250 ZNF215 EXON Missense_R390Q exm887338 11 6977406 [A/G] NM_013250 ZNF215 EXON Missense_I400V exm887340 11 6977463 [T/C] NM_013250 ZNF215 EXON Missense_R419C exm887353 11 6977695 [T/G] NM_013250 ZNF215 EXON Missense_S496I exm887359 11 7021115 [T/C] NM_013249 ZNF214 EXON Missense_N600S exm887361 11 7021184 [T/G] NM_013249 ZNF214 EXON Missense_A577E exm887363 11 7021206 [A/G] NM_013249 ZNF214 EXON Nonsense_R570X exm887364 11 7021223 [G/C] NM_013249 ZNF214 EXON Missense_S564T exm887365 11 7021263 [C/G] NM_013249 ZNF214 EXON Missense_E551Q exm887370 11 7021385 [T/C] NM_013249 ZNF214 EXON Missense_R510H exm887378 11 7021572 [T/C] NM_013249 ZNF214 EXON Missense_G448R exm887388 11 7021736 [T/G] NM_013249 ZNF214 EXON Missense_K393T exm887395 11 7021875 [A/T] NM_013249 ZNF214 EXON Missense_I347F exm887397 11 7021916 [A/G] NM_013249 ZNF214 EXON Missense_I333T exm887398 11 7021922 [T/C] NM_013249 ZNF214 EXON Missense_Y331C exm887411 11 7022160 [A/G] NM_013249 ZNF214 EXON Missense_C252R exm887420 11 7022360 [A/C] NM_013249 ZNF214 EXON Missense_I185R exm887421 11 7022384 [A/G] NM_013249 ZNF214 EXON Missense_S177F exm887422 11 7022411 [T/C] NM_013249 ZNF214 EXON Missense_R168H exm887425 11 7022430 [A/G] NM_013249 ZNF214 EXON Missense_F162L exm887426 11 7022435 [T/C] NM_013249 ZNF214 EXON Missense_H160R exm887427 11 7022463 [T/C] NM_013249 ZNF214 EXON Missense_G151S exm887429 11 7022531 [T/A] NM_013249 ZNF214 EXON Missense_L128H exm887438 11 7022717 [T/C] NM_013249 ZNF214 EXON Missense_Y66C exm887440 11 7023967 [C/G] NM_013249 ZNF214 EXON Missense_E34Q exm887444 11 7059825 [A/G] NM_176822 NLRP14 EXON Missense_D3G exm887445 11 7059827 [A/T] NM_176822 NLRP14 EXON Missense_S4T exm2250227 11 7059853 [T/C] NM_176822 NLRP14 EXON Synonymous_D12D exm887448 11 7059878 [A/G] NM_176822 NLRP14 EXON Missense_E21K exm887451 11 7059960 [A/C] NM_176822 NLRP14 EXON Missense_N48T exm887452 11 7059969 [A/G] NM_176822 NLRP14 EXON Missense_K51R exm887454 11 7059980 [T/C] NM_176822 NLRP14 EXON Missense_R55W exm887455 11 7059981 [A/G] NM_176822 NLRP14 EXON Missense_R55Q exm887459 11 7060948 [T/C] NM_176822 NLRP14 EXON Missense_S98L exm887461 11 7060977 [T/A] NM_176822 NLRP14 EXON Nonsense_K108X exm887463 11 7060998 [C/G] NM_176822 NLRP14 EXON Missense_D115H exm887465 11 7061011 [A/T] NM_176822 NLRP14 EXON Missense_V119E exm887468 11 7063617 [A/C] NM_176822 NLRP14 Silent exm887478 11 7063745 [A/G] NM_176822 NLRP14 EXON Missense_E163G exm887483 11 7063792 [A/G] NM_176822 NLRP14 EXON Missense_V179M exm887489 11 7063954 [T/A] NM_176822 NLRP14 EXON Missense_I233L exm1734349 11 7063982 [A/G] NM_176822 NLRP14 EXON Missense_G242D exm887504 11 7064280 [T/G] NM_176822 NLRP14 EXON Missense_Q341H exm887505 11 7064315 [T/C] NM_176822 NLRP14 EXON Missense_F353S exm887511 11 7064447 [T/C] NM_176822 NLRP14 EXON Missense_T397I exm887513 11 7064483 [T/C] NM_176822 NLRP14 EXON Missense_T409I exm887515 11 7064551 [T/G] NM_176822 NLRP14 EXON Missense_A432S exm887521 11 7064578 [A/G] NM_176822 NLRP14 EXON Missense_V441M exm887522 11 7064594 [A/G] NM_176822 NLRP14 EXON Missense_N446S exm887526 11 7064639 [T/C] NM_176822 NLRP14 EXON Missense_M461T exm887531 11 7064790 [T/G] NM_176822 NLRP14 EXON Missense_L511F exm1734358 11 7064876 [A/G] NM_176822 NLRP14 EXON Missense_R540Q exm887536 11 7064929 [A/T] NM_176822 NLRP14 EXON Missense_S558T exm887544 11 7065142 [T/C] NM_176822 NLRP14 EXON Missense_R629W exm887554 11 7070988 [A/C] NM_176822 NLRP14 EXON Missense_K737T exm1734374 11 7071027 [A/G] NM_176822 NLRP14 EXON Missense_C750Y exm887563 11 7078963 [A/G] NM_176822 NLRP14 EXON Missense_I783V exm887566 11 7079038 [A/G] NM_176822 NLRP14 EXON Missense_E808K exm887570 11 7079079 [A/G] NM_176822 NLRP14 Silent exm887574 11 7079615 [A/G] NM_176822 NLRP14 EXON Missense_G856D exm887576 11 7081133 [A/G] NM_176822 NLRP14 EXON Missense_R881H exm887586 11 7083598 [C/G] NM_176822 NLRP14 EXON Missense_L947V exm887587 11 7083610 [A/T] NM_176822 NLRP14 EXON Missense_S951T exm887588 11 7083620 [T/C] NM_176822 NLRP14 EXON Missense_L954S exm887597 11 7091569 [T/C] NM_176822 NLRP14 EXON Missense_L1010F exm887598 11 7091598 [A/G] NM_176822 NLRP14 EXON Missense_M1019I exm887599 11 7091623 [T/A] NM_176822 NLRP14 EXON Missense_Y1028N exm887600 11 7092474 [T/A] NM_176822 NLRP14 EXON Missense_L1073I exm887632 11 7111136 [T/G] NM_014469 RBMXL2 EXON Missense_G262V exm887635 11 7111186 [A/C] NM_014469 RBMXL2 EXON Missense_H279N exm2271457 11 7283249 [T/G] NM_175733 SYT9 Silent exm2274461 11 7324581 [T/C] NM_175733 SYT9 EXON Missense_R153C exm887684 11 7324584 [A/G] NM_175733 SYT9 EXON Missense_V154M exm887686 11 7324591 [A/G] NM_175733 SYT9 EXON Missense_R156H exm887687 11 7324620 [T/C] NM_175733 SYT9 EXON Missense_R166W exm2250262 11 7334930 [A/C] NM_175733 SYT9 EXON Synonymous_R268R exm887707 11 7335072 [A/G] NM_175733 SYT9 EXON Missense_R315H exm887715 11 7437285 [C/G] NM_175733 SYT9 EXON Missense_L353V exm887726 11 7441737 [T/C] NM_175733 SYT9 EXON Synonymous_R446R exm887728 11 7441844 [T/C] NM_175733 SYT9 EXON Missense_A482V exm887731 11 7488026 [T/C] NM_175733 SYT9 EXON Nonsense_R491X exm2273472 11 7488051 [T/C] NM_175733 SYT9 EXON Silent exm1737162 11 7507122 [T/C] NM_198474 OLFML1 EXON Nonsense_R6X exm887738 11 7507171 [T/C] NM_198474 OLFML1 EXON Missense_P22L exm887739 11 7507174 [T/C] NM_198474 OLFML1 EXON Missense_P23L exm887741 11 7507182 [A/G] NM_198474 OLFML1 EXON Missense_T26A exm887746 11 7509385 [A/G] NM_198474 OLFML1 EXON Missense_T53A exm887747 11 7509386 [T/C] NM_198474 OLFML1 EXON Missense_T53M exm887751 11 7509517 [T/C] NM_198474 OLFML1 EXON Missense_R97W exm887755 11 7509551 [G/C] NM_198474 OLFML1 EXON Missense_A108G exm887757 11 7509566 [T/A] NM_198474 OLFML1 EXON Missense_E113V exm887758 11 7509581 [T/C] NM_198474 OLFML1 EXON Missense_T118I exm887769 11 7530788 [A/G] NM_198474 OLFML1 EXON Missense_R193Q exm887770 11 7530791 [T/C] NM_198474 OLFML1 EXON Missense_A194V exm887773 11 7530905 [T/C] NM_198474 OLFML1 EXON Missense_T232I exm887776 11 7530973 [C/G] NM_198474 OLFML1 EXON Missense_G255R exm887778 11 7530983 [A/G] NM_198474 OLFML1 EXON Missense_R258Q exm887779 11 7530985 [A/G] NM_198474 OLFML1 EXON Missense_A259T exm2250286 11 7530988 [T/C] NM_198474 OLFML1 EXON Synonymous_L260L exm887790 11 7531229 [A/G] NM_198474 OLFML1 EXON Missense_R340H exm887791 11 7531238 [A/G] NM_198474 OLFML1 EXON Missense_C343Y exm887806 11 7570729 [T/C] NM_003621 PPFIBP2 EXON Missense_A8V exm887835 11 7618837 [G/C] NM_003621,NM_001256568 PPFIBP2,PPFIBP2 EXON Missense_R140P,Missense_R28P exm887862 11 7647063 [A/G] NM_003621,NM_001256568,NM_001256569 PPFIBP2,PPFIBP2,PPFIBP2 EXON Missense_R256H,Missense_R144H,Missense_R113H exm887866 11 7647098 [T/C] NM_003621,NM_001256568,NM_001256569 PPFIBP2,PPFIBP2,PPFIBP2 EXON Missense_H268Y,Missense_H156Y,Missense_H125Y exm887870 11 7649517 [C/G] NM_003621,NM_001256568,NM_001256569 PPFIBP2,PPFIBP2,PPFIBP2 EXON Missense_D276E,Missense_D164E,Missense_D133E exm887873 11 7649531 [A/G] NM_003621,NM_001256568,NM_001256569 PPFIBP2,PPFIBP2,PPFIBP2 EXON Missense_R281H,Missense_R169H,Missense_R138H exm887887 11 7650748 [T/C] NM_003621,NM_001256568,NM_001256569 PPFIBP2,PPFIBP2,PPFIBP2 EXON Missense_I316T,Missense_I204T,Missense_I173T exm887890 11 7652165 [A/G] NM_003621,NM_001256568,NM_001256569 PPFIBP2,PPFIBP2,PPFIBP2 EXON Missense_E325G,Missense_E213G,Missense_E182G exm887891 11 7652182 [A/G] NM_003621,NM_001256568,NM_001256569 PPFIBP2,PPFIBP2,PPFIBP2 EXON Missense_N331D,Missense_N219D,Missense_N188D exm2271581 11 7657821 [T/G] NM_003621,NM_001256568,NM_001256569 PPFIBP2,PPFIBP2,PPFIBP2 Silent,Silent,Silent exm887932 11 7663533 [T/C] NM_003621,NM_001256568,NM_001256569 PPFIBP2,PPFIBP2,PPFIBP2 EXON Nonsense_R508X,Nonsense_R396X,Nonsense_R365X exm887945 11 7669718 [G/C] NM_003621,NM_001256568,NM_001256569 PPFIBP2,PPFIBP2,PPFIBP2 EXON Missense_V583L,Missense_V471L,Missense_V440L exm887947 11 7669736 [T/A] NM_003621,NM_001256568,NM_001256569 PPFIBP2,PPFIBP2,PPFIBP2 EXON Missense_L589I,Missense_L477I,Missense_L446I exm887953 11 7670139 [T/A] NM_003621,NM_001256568,NM_001256569 PPFIBP2,PPFIBP2,PPFIBP2 EXON Missense_T636S,Missense_T524S,Missense_T493S exm887959 11 7670440 [A/G] NM_003621,NM_001256568,NM_001256569 PPFIBP2,PPFIBP2,PPFIBP2 EXON Missense_R658G,Missense_R546G,Missense_R515G exm887964 11 7670829 [A/G] NM_003621,NM_001256568,NM_001256569 PPFIBP2,PPFIBP2,PPFIBP2 EXON Missense_V689M,Missense_V577M,Missense_V546M exm887965 11 7670851 [A/T] NM_003621,NM_001256568,NM_001256569 PPFIBP2,PPFIBP2,PPFIBP2 EXON Missense_N696I,Missense_N584I,Missense_N553I exm887973 11 7672132 [A/G] NM_003621,NM_001256568,NM_001256569 PPFIBP2,PPFIBP2,PPFIBP2 EXON Missense_R728Q,Missense_R616Q,Missense_R585Q exm887974 11 7672195 [T/C] NM_003621,NM_001256568,NM_001256569 PPFIBP2,PPFIBP2,PPFIBP2 EXON Missense_I749T,Missense_I637T,Missense_I606T exm887980 11 7672906 [C/G] NM_003621,NM_001256568,NM_001256569 PPFIBP2,PPFIBP2,PPFIBP2 EXON Missense_T756S,Missense_T644S,Missense_T613S exm887982 11 7672942 [A/C] NM_003621,NM_001256568,NM_001256569 PPFIBP2,PPFIBP2,PPFIBP2 EXON Missense_P768Q,Missense_P656Q,Missense_P625Q exm887989 11 7673029 [T/C] NM_003621,NM_001256568,NM_001256569 PPFIBP2,PPFIBP2,PPFIBP2 EXON Missense_M797T,Missense_M685T,Missense_M654T exm887991 11 7673049 [C/G] NM_003621,NM_001256568,NM_001256569 PPFIBP2,PPFIBP2,PPFIBP2 EXON Missense_P804A,Missense_P692A,Missense_P661A exm1737937 11 7673074 [A/G] NM_003621,NM_001256568,NM_001256569 PPFIBP2,PPFIBP2,PPFIBP2 EXON Missense_R812Q,Missense_R700Q,Missense_R669Q exm888002 11 7674351 [A/G] NM_003621,NM_001256568,NM_001256569 PPFIBP2,PPFIBP2,PPFIBP2 EXON Missense_V845I,Missense_V733I,Missense_V702I exm888005 11 7674385 [A/G] NM_003621,NM_001256568,NM_001256569 PPFIBP2,PPFIBP2,PPFIBP2 EXON Missense_R856Q,Missense_R744Q,Missense_R713Q exm888017 11 7686612 [A/G] NM_016229 CYB5R2 EXON Missense_T275I exm888030 11 7686705 [A/G] NM_016229 CYB5R2 EXON Missense_T244M exm888034 11 7686754 [C/G] NM_016229 CYB5R2 EXON Missense_V228L exm1738080 11 7686773 [C/G] NM_016229 CYB5R2 EXON Missense_W221C exm888042 11 7687715 [T/C] NM_016229 CYB5R2 EXON Missense_N209D exm888045 11 7687735 [T/C] NM_016229 CYB5R2 EXON Missense_R202K exm888046 11 7687738 [A/G] NM_016229 CYB5R2 EXON Missense_A201V exm888058 11 7689727 [A/T] NM_016229 CYB5R2 EXON Missense_M152L exm888059 11 7689738 [T/G] NM_016229 CYB5R2 EXON Missense_D148A exm1738175 11 7690483 [A/G] NM_016229 CYB5R2 EXON Missense_T114I exm888080 11 7690873 [T/C] NM_016229 CYB5R2 EXON Missense_V81M exm888086 11 7690949 [G/C] NM_016229 CYB5R2 EXON Missense_Q55H exm888097 11 7693989 [A/G] NM_016229 CYB5R2 EXON Missense_I23T exm888099 11 7694002 [A/G] NM_016229 CYB5R2 EXON Missense_P19S exm888101 11 7694013 [T/G] NM_016229 CYB5R2 EXON Missense_E15A exm888102 11 7694016 [C/G] NM_016229 CYB5R2 EXON Missense_P14R exm888106 11 7694032 [T/C] NM_016229 CYB5R2 EXON Missense_I9V exm-rs7932813 11 7708281 [A/G] exm888109 11 7712471 [T/C] NM_198185 OVCH2 Silent exm888111 11 7712489 [T/C] NM_198185 OVCH2 Silent exm888112 11 7712523 [A/G] NM_198185 OVCH2 EXON Missense_T539I exm888113 11 7712561 [A/T] NM_198185 OVCH2 EXON Missense_Q526H exm1738338 11 7712602 [C/G] NM_198185 OVCH2 EXON Missense_P513A exm888120 11 7712629 [A/G] NM_198185 OVCH2 EXON Missense_R504W exm888125 11 7716305 [T/C] NM_198185 OVCH2 EXON Missense_K466R exm2250305 11 7716331 [A/G] NM_198185 OVCH2 EXON Synonymous_N457N exm888128 11 7716331 [A/G] NM_198185 OVCH2 EXON Synonymous_N457N exm888133 11 7716804 [A/G] NM_198185 OVCH2 EXON Missense_P427S exm888137 11 7716846 [G/C] NM_198185 OVCH2 EXON Missense_G413R exm888138 11 7716849 [G/C] NM_198185 OVCH2 EXON Missense_A412P exm888139 11 7716855 [T/A] NM_198185 OVCH2 EXON Missense_N410Y exm888141 11 7716896 [C/G] NM_198185 OVCH2 EXON Missense_S396C exm888153 11 7717233 [A/G] NM_198185 OVCH2 EXON Missense_P389L exm888154 11 7717257 [T/C] NM_198185 OVCH2 EXON Missense_G381E exm888155 11 7718014 [A/G] NM_198185 OVCH2 EXON Missense_I380T exm888158 11 7718135 [A/G] NM_198185 OVCH2 EXON Missense_R340W exm888167 11 7721870 [A/G] NM_198185 OVCH2 EXON Missense_P292S exm888171 11 7721944 [T/C] NM_198185 OVCH2 EXON Missense_R267Q exm888173 11 7721974 [T/C] NM_198185 OVCH2 EXON Missense_G257D exm888179 11 7723017 [T/C] NM_198185 OVCH2 EXON Missense_V189I exm888196 11 7726198 [A/C] NM_198185 OVCH2 EXON Missense_V38F exm888198 11 7727872 [T/C] NM_198185 OVCH2 EXON Missense_T24A exm888199 11 7727886 [T/C] NM_198185 OVCH2 EXON Missense_R19Q exm888212 11 7817666 [A/G] NM_153444 OR5P2 EXON Missense_T275I exm888240 11 7818137 [T/C] NM_153444 OR5P2 EXON Missense_R118H exm888277 11 7846599 [T/C] NM_153445 OR5P3 EXON Missense_I307M exm888279 11 7846682 [T/C] NM_153445 OR5P3 EXON Missense_V280M exm888284 11 7846730 [T/A] NM_153445 OR5P3 EXON Missense_S264T exm888299 11 7846941 [A/C] NM_153445 OR5P3 EXON Missense_F193L exm888305 11 7846999 [A/G] NM_153445 OR5P3 EXON Missense_V174A exm888306 11 7847047 [T/G] NM_153445 OR5P3 EXON Missense_T158K exm888307 11 7847129 [A/G] NM_153445 OR5P3 EXON Missense_L131F exm888308 11 7847147 [T/C] NM_153445 OR5P3 EXON Missense_A125T exm888309 11 7847161 [T/C] NM_153445 OR5P3 EXON Missense_Y120C exm888311 11 7847194 [A/G] NM_153445 OR5P3 EXON Missense_T109M exm888315 11 7847243 [A/G] NM_153445 OR5P3 EXON Missense_P93S exm888318 11 7847275 [A/G] NM_153445 OR5P3 EXON Missense_L82P exm888321 11 7847348 [G/C] NM_153445 OR5P3 EXON Missense_P58A exm888322 11 7847458 [A/G] NM_153445 OR5P3 EXON Missense_T21I exm2271458 11 7855756 [T/C] exm888333 11 7949293 [T/C] NM_001004461 OR10A6 EXON Missense_R306Q exm888334 11 7949294 [A/G] NM_001004461 OR10A6 EXON Nonsense_R306X exm888336 11 7949326 [T/C] NM_001004461 OR10A6 EXON Missense_S295N exm888338 11 7949333 [A/G] NM_001004461 OR10A6 EXON Nonsense_R293X exm888341 11 7949350 [A/G] NM_001004461 OR10A6 EXON Missense_L287P exm2250328 11 7949430 [T/C] NM_001004461 OR10A6 EXON Synonymous_L260L exm888359 11 7949707 [A/G] NM_001004461 OR10A6 EXON Missense_F168S exm888362 11 7949791 [A/C] NM_001004461 OR10A6 EXON Missense_V140G exm888364 11 7949845 [A/C] NM_001004461 OR10A6 EXON Missense_R122L exm888365 11 7949860 [A/G] NM_001004461 OR10A6 EXON Missense_A117V exm888366 11 7949861 [T/C] NM_001004461 OR10A6 EXON Missense_A117T exm888380 11 7950095 [T/G] NM_001004461 OR10A6 EXON Missense_L39M exm888382 11 7950121 [A/G] NM_001004461 OR10A6 EXON Missense_A30V exm888387 11 7960139 [A/G] NM_001003745 OR10A3 EXON Missense_I310T exm888388 11 7960151 [T/C] NM_001003745 OR10A3 EXON Missense_R306Q exm888389 11 7960152 [A/G] NM_001003745 OR10A3 EXON Nonsense_R306X exm888390 11 7960190 [T/C] NM_001003745 OR10A3 EXON Missense_R293Q exm888391 11 7960191 [A/G] NM_001003745 OR10A3 EXON Nonsense_R293X exm888394 11 7960223 [T/G] NM_001003745 OR10A3 EXON Missense_T282N exm888395 11 7960232 [A/G] NM_001003745 OR10A3 EXON Missense_T279M exm888398 11 7960263 [T/C] NM_001003745 OR10A3 EXON Missense_E269K exm888401 11 7960298 [T/A] NM_001003745 OR10A3 EXON Missense_M257K exm888404 11 7960311 [T/C] NM_001003745 OR10A3 EXON Missense_G253S exm1739470 11 7960425 [A/G] NM_001003745 OR10A3 EXON Missense_L215F exm888411 11 7960520 [A/G] NM_001003745 OR10A3 EXON Missense_P183L exm888412 11 7960553 [T/C] NM_001003745 OR10A3 EXON Missense_N172S exm888414 11 7960583 [G/C] NM_001003745 OR10A3 EXON Missense_W162S exm888416 11 7960593 [C/G] NM_001003745 OR10A3 EXON Missense_Q159E exm888417 11 7960607 [A/G] NM_001003745 OR10A3 EXON Missense_M154T exm888418 11 7960674 [A/G] NM_001003745 OR10A3 EXON Missense_Y132H exm888422 11 7960782 [T/C] NM_001003745 OR10A3 EXON Missense_G96S exm888429 11 7960990 [A/C] NM_001003745 OR10A3 EXON Missense_Q26H exm888432 11 7961010 [A/C] NM_001003745 OR10A3 EXON Missense_F20V exm888440 11 7981261 [T/C] NM_176821 NLRP10 EXON Missense_G633E exm888444 11 7981366 [T/C] NM_176821 NLRP10 EXON Missense_S598N exm888454 11 7981640 [T/C] NM_176821 NLRP10 EXON Missense_N507D exm888457 11 7981684 [T/C] NM_176821 NLRP10 EXON Missense_R492H exm888458 11 7981703 [G/C] NM_176821 NLRP10 EXON Missense_R486G exm888466 11 7981822 [A/G] NM_176821 NLRP10 EXON Missense_F446S exm888467 11 7981854 [T/A] NM_176821 NLRP10 EXON Missense_K435N exm888479 11 7982029 [A/G] NM_176821 NLRP10 EXON Missense_T377I exm1739545 11 7982050 [T/C] NM_176821 NLRP10 EXON Missense_R370K exm888485 11 7982179 [T/C] NM_176821 NLRP10 EXON Missense_Y327C exm888494 11 7982432 [A/G] NM_176821 NLRP10 EXON Missense_R243W exm2274462 11 7982498 [T/G] NM_176821 NLRP10 EXON Missense_Q221K exm888497 11 7982542 [A/T] NM_176821 NLRP10 EXON Missense_V206E exm888517 11 7982840 [A/G] NM_176821 NLRP10 EXON Missense_R107C exm888530 11 7985014 [T/C] NM_176821 NLRP10 EXON Missense_R10Q exm888532 11 7985027 [A/C] NM_176821 NLRP10 EXON Missense_A6S exm888536 11 8008918 [T/C] NM_003754 EIF3F EXON Missense_P7S exm888571 11 8013688 [C/G] NM_003754 EIF3F EXON Missense_P165A exm1739757 11 8014567 [A/G] NM_003754 EIF3F EXON Missense_V217I exm888585 11 8016013 [T/G] NM_003754 EIF3F EXON Missense_F232V exm888587 11 8016038 [T/C] NM_003754 EIF3F EXON Missense_A240V exm888625 11 8060566 [A/G] NM_003320 TUB EXON Missense_R49Q exm888626 11 8060574 [T/C] NM_003320 TUB EXON Missense_R52W exm888627 11 8060575 [A/G] NM_003320 TUB EXON Missense_R52Q exm888647 11 8111196 [A/G] NM_003320,NM_177972 TUB,TUB EXON Synonymous_K81K,Synonymous_K26K exm888653 11 8111674 [T/C] NM_003320,NM_177972 TUB,TUB EXON Missense_A105V,Missense_A50V exm888663 11 8115691 [A/G] NM_003320,NM_177972 TUB,TUB EXON Missense_G173S,Missense_G118S exm888665 11 8115697 [A/G] NM_003320,NM_177972 TUB,TUB EXON Missense_G175S,Missense_G120S exm888668 11 8115703 [A/G] NM_003320,NM_177972 TUB,TUB EXON Missense_A177T,Missense_A122T exm888692 11 8118348 [A/G] NM_003320,NM_177972 TUB,TUB EXON Missense_V283I,Missense_V228I exm888695 11 8118823 [A/G] NM_003320,NM_177972 TUB,TUB EXON Missense_V301I,Missense_V246I exm888699 11 8118874 [A/G] NM_003320,NM_177972 TUB,TUB EXON Missense_I318V,Missense_I263V exm888705 11 8119298 [A/G] NM_003320,NM_177972 TUB,TUB EXON Missense_K363R,Missense_K308R exm888711 11 8122059 [A/G] NM_003320,NM_177972 TUB,TUB EXON Missense_V431I,Missense_V376I exm888715 11 8122113 [A/G] NM_003320,NM_177972 TUB,TUB EXON Missense_M449V,Missense_M394V exm888718 11 8122137 [T/C] NM_003320,NM_177972 TUB,TUB EXON Missense_R457C,Missense_R402C exm1740029 11 8122147 [A/G] NM_003320,NM_177972 TUB,TUB EXON Missense_N460S,Missense_N405S exm2259879 11 8129296 [A/C] NR_045405,NM_001206671,NM_024557,NM_001206672,NM_001135109 RIC3,RIC3,RIC3,RIC3,RIC3 EXON Silent,Silent,Silent,Silent,Silent exm888750 11 8132301 [T/C] NR_045405,NM_001206671,NM_024557,NM_001206672,NM_001135109 RIC3,RIC3,RIC3,RIC3,RIC3 EXON Silent,Missense_D352N,Missense_D351N,Missense_D271N,Missense_D170N exm888755 11 8132421 [T/C] NR_045405,NM_001206671,NM_024557,NM_001206672,NM_001135109 RIC3,RIC3,RIC3,RIC3,RIC3 EXON Silent,Missense_D312N,Missense_D311N,Missense_D231N,Missense_D130N exm888758 11 8132559 [T/C] NR_045405,NM_001206671,NM_024557,NM_001206672,NM_001135109 RIC3,RIC3,RIC3,RIC3,RIC3 EXON Silent,Missense_G266R,Missense_G265R,Missense_G185R,Missense_G84R exm888765 11 8148223 [T/C] NR_045405,NM_001206671,NM_024557,NM_001206672,NM_001135109 RIC3,RIC3,RIC3,RIC3,RIC3 EXON Silent,Missense_Y218C,Missense_Y217C,Silent,Silent exm888766 11 8148287 [A/C] NR_045405,NM_001206671,NM_024557,NM_001206672,NM_001135109 RIC3,RIC3,RIC3,RIC3,RIC3 EXON Silent,Missense_V197F,Missense_V196F,Silent,Silent exm888768 11 8148301 [T/C] NR_045405,NM_001206671,NM_024557,NM_001206672,NM_001135109 RIC3,RIC3,RIC3,RIC3,RIC3 EXON Silent,Missense_R192Q,Missense_R191Q,Silent,Silent exm888778 11 8159843 [A/G] NR_045405,NM_001206671,NM_024557,NM_001206672,NM_001135109 RIC3,RIC3,RIC3,RIC3,RIC3 EXON Silent,Missense_P135S,Missense_P135S,Missense_P135S,Silent exm888780 11 8159857 [T/C] NR_045405,NM_001206671,NM_024557,NM_001206672,NM_001135109 RIC3,RIC3,RIC3,RIC3,RIC3 EXON Silent,Missense_C130Y,Missense_C130Y,Missense_C130Y,Silent exm888783 11 8159884 [C/G] NR_045405,NM_001206671,NM_024557,NM_001206672,NM_001135109 RIC3,RIC3,RIC3,RIC3,RIC3 EXON Silent,Missense_G121A,Missense_G121A,Missense_G121A,Silent exm888801 11 8190448 [T/C] NR_045405,NM_001206671,NM_024557,NM_001206672,NM_001135109 RIC3,RIC3,RIC3,RIC3,RIC3 EXON Silent,Missense_R30H,Missense_R30H,Missense_R30H,Missense_R30H exm888802 11 8190463 [T/C] NR_045405,NM_001206671,NM_024557,NM_001206672,NM_001135109 RIC3,RIC3,RIC3,RIC3,RIC3 EXON Silent,Missense_K25R,Missense_K25R,Missense_K25R,Missense_K25R exm888815 11 8246233 [T/C] NR_073006,NM_002315,NM_001270428 LMO1,LMO1,LMO1 EXON Silent,Missense_N134S,Missense_N133S exm888817 11 8248544 [G/C] NR_073006,NM_002315,NM_001270428 LMO1,LMO1,LMO1 EXON Silent,Missense_A115P,Missense_A114P exm2250347 11 8251900 [A/G] NR_073006,NM_002315,NM_001270428 LMO1,LMO1,LMO1 EXON Silent,Synonymous_G59G,Synonymous_G58G exm888825 11 8251900 [A/G] NR_073006,NM_002315,NM_001270428 LMO1,LMO1,LMO1 EXON Silent,Synonymous_G59G,Synonymous_G58G exm-rs110419 11 8252853 [A/G] NR_073006,NM_002315,NM_001270428 LMO1,LMO1,LMO1 Silent,Silent,Silent exm2267147 11 8410621 [A/G] exm888843 11 8414061 [A/G] NM_030906 STK33 EXON Missense_L514P exm2219553 11 8414139 [T/G] NM_030906 STK33 EXON Missense_T488N exm888849 11 8414229 [T/G] NM_030906 STK33 EXON Missense_A458E exm888851 11 8435077 [T/C] NM_030906 STK33 EXON Missense_A437T exm888852 11 8435078 [A/C] NM_030906 STK33 EXON Missense_D436E exm888854 11 8435100 [T/G] NM_030906 STK33 EXON Missense_Q429P exm888865 11 8457681 [T/C] NM_030906 STK33 EXON Missense_R318H exm888867 11 8462289 [T/C] NM_030906 STK33 EXON Missense_I295V exm2219558 11 8478960 [A/G] NM_030906 STK33 EXON Missense_H209Y exm888875 11 8478972 [C/G] NM_030906 STK33 EXON Missense_D205H exm888883 11 8483407 [T/C] NM_030906 STK33 EXON Missense_K168R exm-rs10769908 11 8484089 [T/C] NM_030906 STK33 Silent exm888894 11 8494715 [T/C] NM_030906 STK33 EXON Missense_I112V exm888895 11 8494755 [T/G] NM_030906 STK33 EXON Missense_E98D exm888900 11 8496301 [A/G] NM_030906 STK33 EXON Missense_A51V exm-rs4929949 11 8604593 [T/C] NM_030906 STK33 Silent exm-rs4929923 11 8639200 [T/C] NM_014818 TRIM66 EXON Silent exm888918 11 8641661 [T/C] NM_014818 TRIM66 EXON Missense_K1052R exm888919 11 8642003 [T/C] NM_014818 TRIM66 EXON Missense_Y1045C exm888920 11 8642028 [A/G] NM_014818 TRIM66 EXON Missense_R1037W exm888934 11 8646324 [T/C] NM_014818 TRIM66 EXON Missense_R776Q exm888936 11 8646358 [T/G] NM_014818 TRIM66 EXON Missense_Q765K exm888945 11 8646537 [T/C] NM_014818 TRIM66 EXON Missense_S705N exm888951 11 8646670 [T/G] NM_014818 TRIM66 EXON Missense_N661H exm888952 11 8646763 [C/G] NM_014818 TRIM66 EXON Missense_L630V exm888955 11 8660223 [A/G] NM_014818 TRIM66 EXON Missense_S618F exm888958 11 8661842 [T/C] NM_014818 TRIM66 EXON Missense_G549R exm888960 11 8662007 [T/C] NM_014818 TRIM66 EXON Missense_E494K exm888964 11 8662112 [G/C] NM_014818 TRIM66 EXON Missense_P459A exm888968 11 8662219 [A/G] NM_014818 TRIM66 EXON Missense_A423V exm888971 11 8662310 [T/C] NM_014818 TRIM66 EXON Missense_V393M exm888978 11 8662501 [A/G] NM_014818 TRIM66 EXON Missense_S329L exm888979 11 8662516 [T/C] NM_014818 TRIM66 EXON Missense_H324R exm888981 11 8662649 [A/G] NM_014818 TRIM66 EXON Missense_Y280H exm888984 11 8667343 [A/G] NM_014818 TRIM66 EXON Missense_I205T exm888986 11 8668016 [T/G] NM_014818 TRIM66 EXON Missense_N167T exm888988 11 8668082 [T/C] NM_014818 TRIM66 EXON Missense_R145K exm2276794 11 8706439 [A/G] NM_000990 RPL27A EXON Synonymous_S106S exm889067 11 8718154 [T/C] NM_005418,NM_213618,NM_139157 ST5,ST5,ST5 EXON Missense_V1038I,Missense_V1038I,Missense_V618I exm889087 11 8724191 [A/G] NM_005418,NM_213618,NM_139157 ST5,ST5,ST5 EXON Missense_V883A,Missense_V883A,Missense_V463A exm889091 11 8728736 [T/C] NM_005418,NM_213618,NM_139157 ST5,ST5,ST5 EXON Missense_A823T,Missense_A823T,Missense_A403T exm2219587 11 8729362 [T/C] NM_005418,NM_213618,NM_139157 ST5,ST5,ST5 EXON Missense_V798I,Missense_V798I,Missense_V378I exm889124 11 8737169 [T/C] NM_005418,NM_213618,NM_139157 ST5,ST5,ST5 EXON Missense_R609Q,Missense_R609Q,Missense_R189Q exm889131 11 8737266 [T/C] NM_005418,NM_213618,NM_139157 ST5,ST5,ST5 EXON Missense_D577N,Missense_D577N,Missense_D157N exm889143 11 8739379 [T/C] NM_005418,NM_213618,NM_139157 ST5,ST5,ST5 EXON Missense_R513Q,Missense_R513Q,Missense_R93Q exm889160 11 8751626 [T/C] NM_005418,NM_213618,NM_139157 ST5,ST5,ST5 EXON Missense_S404N,Missense_S404N,Silent exm889161 11 8751640 [C/G] NM_005418,NM_213618,NM_139157 ST5,ST5,ST5 EXON Missense_D399E,Missense_D399E,Silent exm889166 11 8751746 [A/G] NM_005418,NM_213618,NM_139157 ST5,ST5,ST5 EXON Missense_T364I,Missense_T364I,Silent exm889176 11 8751889 [G/C] NM_005418,NM_213618,NM_139157 ST5,ST5,ST5 EXON Missense_K316N,Missense_K316N,Silent exm889177 11 8751902 [T/C] NM_005418,NM_213618,NM_139157 ST5,ST5,ST5 EXON Missense_R312Q,Missense_R312Q,Silent exm889183 11 8752088 [T/C] NM_005418,NM_213618,NM_139157 ST5,ST5,ST5 EXON Missense_R250Q,Missense_R250Q,Silent exm889195 11 8752380 [T/C] NM_005418,NM_213618,NM_139157 ST5,ST5,ST5 EXON Missense_T153A,Missense_T153A,Silent exm889196 11 8752389 [T/C] NM_005418,NM_213618,NM_139157 ST5,ST5,ST5 EXON Missense_V150I,Missense_V150I,Silent exm889215 11 8772187 [A/G] NM_005418,NM_213618,NM_139157 ST5,ST5,ST5 EXON Missense_P21S,Missense_P21S,Missense_P21S exm2271459 11 8876852 [T/C] NM_005418 ST5 Silent exm889218 11 8933004 [A/C] NM_001206647,NM_001206646,NM_001206648,NM_020642,NR_045417,NR_045418 AKIP1,AKIP1,AKIP1,AKIP1,AKIP1,AKIP1 EXON Missense_N3T,Missense_N3T,Missense_N3T,Missense_N3T,Silent,Silent exm889219 11 8933010 [T/G] NM_001206647,NM_001206646,NM_001206648,NM_020642,NR_045417,NR_045418 AKIP1,AKIP1,AKIP1,AKIP1,AKIP1,AKIP1 EXON Missense_L5W,Missense_L5W,Missense_L5W,Missense_L5W,Silent,Silent exm889222 11 8933064 [A/G] NM_001206647,NM_001206646,NM_001206648,NM_020642,NR_045417,NR_045418 AKIP1,AKIP1,AKIP1,AKIP1,AKIP1,AKIP1 EXON Missense_R23K,Missense_R23K,Missense_R23K,Missense_R23K,Silent,Silent exm889236 11 8936460 [G/C] NM_001206647,NM_001206646,NM_001206648,NM_020642,NR_045417,NR_045418 AKIP1,AKIP1,AKIP1,AKIP1,AKIP1,AKIP1 EXON Missense_D131H,Missense_D104H,Missense_D104H,Missense_D131H,Silent,Silent exm889240 11 8938853 [T/C] NM_001206647,NM_001206646,NM_001206648,NM_020642,NR_045417,NR_045418 AKIP1,AKIP1,AKIP1,AKIP1,AKIP1,AKIP1 EXON Silent,Missense_T116I,Silent,Missense_T143I,Silent,Silent exm1742693 11 8938895 [G/C] NM_001206647,NM_001206646,NM_001206648,NM_020642,NR_045417,NR_045418 AKIP1,AKIP1,AKIP1,AKIP1,AKIP1,AKIP1 EXON Silent,Missense_A130G,Silent,Missense_A157G,Silent,Silent exm889244 11 8940906 [T/C] NM_001206647,NM_001206646,NM_001206648,NM_020642,NR_045417,NR_045418 AKIP1,AKIP1,AKIP1,AKIP1,AKIP1,AKIP1 EXON Missense_L144P,Missense_L144P,Missense_L117P,Missense_L171P,Silent,Silent exm889248 11 8940989 [A/G] NM_001206647,NM_001206646,NM_001206648,NM_020642,NR_045417,NR_045418 AKIP1,AKIP1,AKIP1,AKIP1,AKIP1,AKIP1 EXON Missense_D172N,Missense_D172N,Missense_D145N,Missense_D199N,Silent,Silent exm889255 11 8942867 [T/C] NM_020643 C11orf16 EXON Missense_R467H exm889258 11 8942909 [T/C] NM_020643 C11orf16 EXON Missense_R453Q exm889262 11 8942969 [A/G] NM_020643 C11orf16 EXON Missense_S433L exm889265 11 8942999 [A/G] NM_020643 C11orf16 EXON Missense_A423V exm889270 11 8947010 [G/C] NM_020643 C11orf16 EXON Missense_G402R exm889271 11 8947021 [A/G] NM_020643 C11orf16 EXON Missense_L398P exm889272 11 8947037 [T/C] NM_020643 C11orf16 EXON Missense_G393R exm889274 11 8947080 [G/C] NM_020643 C11orf16 EXON Missense_Q378H exm889277 11 8947127 [T/C] NM_020643 C11orf16 EXON Missense_S363G exm889279 11 8947178 [T/C] NM_020643 C11orf16 EXON Missense_G346S exm889284 11 8947283 [G/C] NM_020643 C11orf16 EXON Missense_P311A exm889286 11 8947324 [T/C] NM_020643 C11orf16 EXON Missense_R297K exm889289 11 8947366 [A/C] NM_020643 C11orf16 EXON Missense_C283F exm889294 11 8947579 [A/G] NM_020643 C11orf16 EXON Missense_S212L exm889295 11 8947586 [C/G] NM_020643 C11orf16 EXON Missense_V210L exm889296 11 8947640 [A/C] NM_020643 C11orf16 EXON Nonsense_E192X exm889302 11 8948615 [A/G] NM_020643 C11orf16 EXON Missense_P144L exm889326 11 8953795 [T/G] NM_020643 C11orf16 EXON Missense_L21M exm889328 11 8953850 [T/G] NM_020643 C11orf16 EXON Missense_E2D exm1742761 11 8959255 [C/G] NM_020646 ASCL3 EXON Missense_D152H exm889333 11 8959296 [A/G] NM_020646 ASCL3 EXON Missense_A138V exm889334 11 8959327 [A/G] NM_020646 ASCL3 EXON Nonsense_R128X exm889341 11 8959407 [T/C] NM_020646 ASCL3 EXON Missense_R101Q exm889343 11 8959438 [T/C] NM_020646 ASCL3 EXON Missense_G91R exm889346 11 8959479 [A/G] NM_020646 ASCL3 EXON Missense_P77L exm889353 11 8959545 [A/C] NM_020646 ASCL3 EXON Missense_R55L exm889354 11 8959546 [A/G] NM_020646 ASCL3 EXON Missense_R55W exm889356 11 8959576 [T/C] NM_020646 ASCL3 EXON Missense_V45M exm889361 11 8959644 [T/C] NM_020646 ASCL3 EXON Missense_R22H exm889402 11 9005469 [C/G] NM_020645 NRIP3 EXON Missense_D221E exm889405 11 9005491 [T/C] NM_020645 NRIP3 EXON Missense_R214Q exm889412 11 9007275 [G/C] NM_020645 NRIP3 EXON Missense_C182S exm889413 11 9007342 [A/G] NM_020645 NRIP3 EXON Missense_R160W exm889414 11 9007384 [T/C] NM_020645 NRIP3 EXON Missense_V146I exm889421 11 9009751 [A/C] NM_020645 NRIP3 EXON Missense_A85S exm889430 11 9009805 [A/G] NM_020645 NRIP3 EXON Missense_R67C exm889435 11 9025443 [A/C] NM_020645 NRIP3 EXON Nonsense_E14X exm889449 11 9047261 [T/C] NM_020974,NM_001170690 SCUBE2,SCUBE2 EXON Missense_V891M,Missense_V727M exm889464 11 9048998 [C/G] NM_020974,NM_001170690 SCUBE2,SCUBE2 EXON Missense_P815A,Silent exm889469 11 9049107 [A/G] NM_020974,NM_001170690 SCUBE2,SCUBE2 EXON Synonymous_N778N,Silent exm889472 11 9051442 [G/C] NM_020974,NM_001170690 SCUBE2,SCUBE2 EXON Missense_T774S,Missense_T676S exm1742974 11 9051472 [A/G] NM_020974,NM_001170690 SCUBE2,SCUBE2 EXON Missense_T764M,Missense_T666M exm889473 11 9051475 [G/C] NM_020974,NM_001170690 SCUBE2,SCUBE2 EXON Missense_T763S,Missense_T665S exm889475 11 9051565 [T/G] NM_020974,NM_001170690 SCUBE2,SCUBE2 EXON Missense_N733T,Missense_N635T exm889480 11 9052423 [A/C] NM_020974,NM_001170690 SCUBE2,SCUBE2 EXON Missense_H684Q,Missense_H586Q exm889491 11 9068915 [T/C] NM_020974,NM_001170690 SCUBE2,SCUBE2 EXON Missense_E664K,Missense_E509K exm889497 11 9068954 [A/G] NM_020974,NM_001170690 SCUBE2,SCUBE2 EXON Missense_R651C,Missense_R496C exm2250408 11 9068979 [A/G] NM_020974,NM_001170690 SCUBE2,SCUBE2 EXON Synonymous_A642A,Synonymous_A487A exm889503 11 9069046 [A/G] NM_020974,NM_001170690 SCUBE2,SCUBE2 EXON Missense_T620M,Missense_T465M exm889506 11 9069061 [T/C] NM_020974,NM_001170690 SCUBE2,SCUBE2 EXON Missense_R615H,Missense_R460H exm889514 11 9072168 [A/G] NM_020974,NM_001170690 SCUBE2,SCUBE2 EXON Nonsense_R542X,Silent exm889515 11 9072180 [A/G] NM_020974,NM_001170690 SCUBE2,SCUBE2 EXON Missense_P538S,Silent exm889520 11 9074651 [A/G] NM_020974,NM_001170690 SCUBE2,SCUBE2 EXON Missense_S481F,Silent exm889522 11 9074721 [A/C] NM_020974,NM_001170690 SCUBE2,SCUBE2 EXON Missense_S458A,Silent exm889534 11 9080916 [T/C] NM_020974,NM_001170690 SCUBE2,SCUBE2 EXON Missense_V342M,Missense_V342M exm889536 11 9080949 [T/G] NM_020974,NM_001170690 SCUBE2,SCUBE2 EXON Missense_N331H,Missense_N331H exm889541 11 9082068 [A/G] NM_020974,NM_001170690 SCUBE2,SCUBE2 EXON Missense_T285M,Missense_T285M exm889543 11 9087462 [A/G] NM_020974,NM_001170690 SCUBE2,SCUBE2 EXON Missense_R276W,Missense_R276W exm889552 11 9088340 [T/C] NM_020974,NM_001170690 SCUBE2,SCUBE2 EXON Missense_G222S,Missense_G222S exm889559 11 9090949 [T/A] NM_020974,NM_001170690 SCUBE2,SCUBE2 EXON Missense_F204Y,Missense_F204Y exm889584 11 9111333 [T/G] NM_020974,NM_001170690 SCUBE2,SCUBE2 EXON Missense_D59E,Missense_D59E exm889602 11 9163547 [T/C] NM_015213,NM_001243254 DENND5A,DENND5A EXON Missense_N1207S,Missense_N1207S exm889609 11 9164304 [T/C] NM_015213,NM_001243254 DENND5A,DENND5A EXON Missense_R1159Q,Missense_R1159Q exm889618 11 9165683 [T/C] NM_015213,NM_001243254 DENND5A,DENND5A EXON Missense_I1089V,Missense_I1089V exm889620 11 9165715 [T/C] NM_015213,NM_001243254 DENND5A,DENND5A EXON Missense_R1078Q,Missense_R1078Q exm889637 11 9168621 [T/C] NM_015213,NM_001243254 DENND5A,DENND5A EXON Missense_N938S,Missense_N938S exm2250413 11 9171705 [T/C] NM_015213,NM_001243254 DENND5A,DENND5A EXON Synonymous_A886A,Synonymous_A886A exm889646 11 9172291 [A/G] NM_015213,NM_001243254 DENND5A,DENND5A EXON Missense_R848C,Missense_R848C exm889669 11 9199735 [T/C] NM_015213,NM_001243254 DENND5A,DENND5A EXON Missense_R617Q,Missense_R617Q exm889670 11 9199780 [T/C] NM_015213,NM_001243254 DENND5A,DENND5A EXON Missense_R602Q,Missense_R602Q exm889672 11 9199831 [A/G] NM_015213,NM_001243254 DENND5A,DENND5A EXON Missense_I585T,Missense_I585T exm889674 11 9199841 [T/C] NM_015213,NM_001243254 DENND5A,DENND5A EXON Missense_A582T,Missense_A582T exm889682 11 9202340 [T/C] NM_015213,NM_001243254 DENND5A,DENND5A EXON Missense_K477E,Missense_K477E exm889684 11 9202357 [T/C] NM_015213,NM_001243254 DENND5A,DENND5A EXON Missense_R471Q,Missense_R471Q exm889703 11 9225326 [T/C] NM_015213,NM_001243254 DENND5A,DENND5A EXON Missense_N277S,Missense_N277S exm889710 11 9225417 [T/C] NM_015213,NM_001243254 DENND5A,DENND5A EXON Missense_V247I,Missense_V247I exm889731 11 9229146 [T/C] NM_015213,NM_001243254 DENND5A,DENND5A EXON Missense_R48K,Missense_R48K exm889734 11 9286536 [A/C] NM_015213,NM_001243254 DENND5A,DENND5A EXON Missense_E27D,Missense_E27D exm889742 11 9305051 [T/C] NR_028491,NM_015012 TMEM41B,TMEM41B EXON Silent,Missense_I266V exm889770 11 9321173 [A/G] NR_028491,NM_015012,NM_001165030 TMEM41B,TMEM41B,TMEM41B EXON Silent,Missense_F66S,Missense_F66S exm2271460 11 9383450 [T/C] exm889787 11 9430093 [T/G] NM_006391 IPO7 EXON Missense_G76V exm889792 11 9430155 [A/G] NM_006391 IPO7 EXON Missense_E97K exm889793 11 9431475 [A/G] NM_006391 IPO7 EXON Synonymous_R107R exm889827 11 9451340 [A/G] NM_006391 IPO7 EXON Missense_E571K exm889851 11 9459831 [T/C] NM_006391 IPO7 EXON Synonymous_T898T exm889853 11 9462003 [A/G] NM_006391 IPO7 EXON Synonymous_E899E exm889862 11 9463660 [A/G] NM_006391 IPO7 EXON Missense_A979T exm889870 11 9494245 [T/C] NM_003442 ZNF143 EXON Missense_M45T exm889871 11 9494278 [G/C] NM_003442 ZNF143 EXON Missense_A56G exm889887 11 9501026 [T/C] NM_003442 ZNF143 EXON Missense_I193T exm889919 11 9534103 [A/G] NM_003442 ZNF143 EXON Missense_S495N exm889926 11 9537863 [T/C] NM_003442 ZNF143 EXON Missense_T547M exm889929 11 9537904 [G/C] NM_003442 ZNF143 EXON Missense_E561Q exm1744247 11 9546800 [G/C] NM_003442 ZNF143 EXON Missense_A567G exm889961 11 9598173 [A/G] NM_003390,NM_001143976 WEE1,WEE1 EXON Missense_R329Q,Missense_R115Q exm889964 11 9603097 [G/C] NM_003390,NM_001143976 WEE1,WEE1 EXON Missense_A387G,Missense_A173G exm1744510 11 9606879 [A/C] NM_003390,NM_001143976 WEE1,WEE1 EXON Missense_N455H,Missense_N241H exm889973 11 9606888 [A/C] NM_003390,NM_001143976 WEE1,WEE1 EXON Missense_M458L,Missense_M244L exm889982 11 9608330 [A/G] NM_003390,NM_001143976 WEE1,WEE1 EXON Missense_A572T,Missense_A358T exm2250449 11 9685741 [A/G] NM_015055 SWAP70 EXON Synonymous_K5K exm2271582 11 9690013 [T/G] NM_015055 SWAP70 Silent exm890023 11 9761797 [T/C] NM_015055 SWAP70 EXON Missense_R420W exm890034 11 9769562 [G/C] NM_015055 SWAP70 EXON Missense_Q505E exm890059 11 9806845 [A/T] NR_036485,NM_030962 SBF2-AS1,SBF2 EXON Silent,Missense_R1686S exm890061 11 9806849 [G/C] NR_036485,NM_030962 SBF2-AS1,SBF2 EXON Silent,Missense_S1685W exm890065 11 9809181 [A/G] NR_036485,NM_030962 SBF2-AS1,SBF2 EXON Silent,Synonymous_R1679R exm890076 11 9810783 [T/C] NR_036485,NM_030962 SBF2-AS1,SBF2 EXON Silent,Missense_K1602R exm2274463 11 9810789 [A/G] NR_036485,NM_030962 SBF2-AS1,SBF2 EXON Silent,Missense_T1600I exm890082 11 9812108 [T/C] NR_036485,NM_030962 SBF2-AS1,SBF2 EXON Silent,Missense_I1565V exm890092 11 9817426 [A/G] NR_036485,NM_030962 SBF2-AS1,SBF2 EXON Silent,Missense_R1508C exm890107 11 9834123 [G/C] NM_030962 SBF2 EXON Missense_V1371L exm890109 11 9834138 [A/G] NM_030962 SBF2 EXON Missense_P1366S exm890113 11 9834180 [T/C] NM_030962 SBF2 EXON Missense_S1352G exm890120 11 9838488 [T/C] NM_030962 SBF2 EXON Missense_K1293E exm890122 11 9838500 [A/G] NM_030962 SBF2 EXON Missense_R1289W exm890124 11 9838534 [G/C] NM_030962 SBF2 EXON Missense_I1277M exm890126 11 9838541 [T/C] NM_030962 SBF2 EXON Missense_R1275H exm890128 11 9838553 [T/C] NM_030962 SBF2 EXON Missense_R1271H exm1745308 11 9850942 [T/A] NM_030962 SBF2 EXON Missense_S1252C exm890138 11 9853777 [G/C] NM_030962 SBF2 EXON Missense_Q1216E exm890145 11 9861067 [T/C] NM_030962 SBF2 EXON Missense_R1145G exm890147 11 9861208 [C/G] NM_030962 SBF2 EXON Missense_L1098V exm890148 11 9861210 [T/G] NM_030962 SBF2 EXON Missense_T1097N exm1745339 11 9867166 [A/T] NM_030962 SBF2 EXON Missense_Q1019L exm890178 11 9878045 [T/C] NM_030962 SBF2 EXON Missense_G775S exm890183 11 9878171 [C/G] NM_030962 SBF2 EXON Missense_Q733E exm890192 11 9879838 [T/C] NM_030962 SBF2 EXON Missense_E679K exm2271461 11 9961079 [T/C] NM_030962 SBF2 Silent exm890210 11 9989969 [T/C] NM_030962 SBF2 EXON Missense_E507K exm890217 11 9990080 [T/G] NM_030962 SBF2 EXON Missense_P470T exm2249501 11 10019879 [A/G] NM_030962 SBF2 EXON Synonymous_P303P exm890236 11 10019879 [A/G] NM_030962 SBF2 EXON Synonymous_P303P exm890277 11 10327547 [G/C] NM_001124 ADM EXON Missense_S50R exm890283 11 10327884 [C/G] NM_001124 ADM EXON Missense_P85R exm-rs2923084 11 10388782 [A/G] exm890300 11 10477939 [T/G] NM_001172431,NM_000480,NM_001025389,NM_001025390 AMPD3,AMPD3,AMPD3,AMPD3 EXON Silent,Silent,Silent,Missense_E2D exm890303 11 10483071 [T/C] NM_001172431,NM_000480,NM_001025389,NM_001025390,NM_001172430 AMPD3,AMPD3,AMPD3,AMPD3,AMPD3 EXON Silent,Missense_P11L,Missense_P2L,Missense_P9L,Missense_P2L exm890305 11 10483112 [G/C] NM_001172431,NM_000480,NM_001025389,NM_001025390,NM_001172430 AMPD3,AMPD3,AMPD3,AMPD3,AMPD3 EXON Silent,Missense_Q25E,Missense_Q16E,Missense_Q23E,Missense_Q16E exm890317 11 10483275 [A/G] NM_001172431,NM_000480,NM_001025389,NM_001025390,NM_001172430 AMPD3,AMPD3,AMPD3,AMPD3,AMPD3 EXON Silent,Missense_E79G,Missense_E70G,Missense_E77G,Missense_E70G exm890322 11 10500134 [A/G] NM_001172431,NM_000480,NM_001025389,NM_001025390,NM_001172430 AMPD3,AMPD3,AMPD3,AMPD3,AMPD3 EXON Silent,Missense_D104N,Missense_D95N,Missense_D102N,Missense_D95N exm890344 11 10503736 [T/C] NM_001172431,NM_000480,NM_001025389,NM_001025390,NM_001172430 AMPD3,AMPD3,AMPD3,AMPD3,AMPD3 EXON Missense_R26W,Missense_R194W,Missense_R185W,Missense_R192W,Missense_R185W exm890346 11 10506368 [T/C] NM_001172431,NM_000480,NM_001025389,NM_001025390,NM_001172430 AMPD3,AMPD3,AMPD3,AMPD3,AMPD3 EXON Synonymous_D38D,Synonymous_D206D,Synonymous_D197D,Synonymous_D204D,Synonymous_D197D exm890353 11 10508808 [A/G] NM_001172431,NM_000480,NM_001025389,NM_001025390,NM_001172430 AMPD3,AMPD3,AMPD3,AMPD3,AMPD3 EXON Missense_N120S,Missense_N288S,Missense_N279S,Missense_N286S,Missense_N279S exm890357 11 10508888 [T/C] NM_001172431,NM_000480,NM_001025389,NM_001025390,NM_001172430 AMPD3,AMPD3,AMPD3,AMPD3,AMPD3 EXON Missense_R147W,Missense_R315W,Missense_R306W,Missense_R313W,Missense_R306W exm890360 11 10508903 [T/G] NM_001172431,NM_000480,NM_001025389,NM_001025390,NM_001172430 AMPD3,AMPD3,AMPD3,AMPD3,AMPD3 EXON Missense_V152L,Missense_V320L,Missense_V311L,Missense_V318L,Missense_V311L exm890362 11 10514915 [T/C] NM_001172431,NM_000480,NM_001025389,NM_001025390,NM_001172430 AMPD3,AMPD3,AMPD3,AMPD3,AMPD3 EXON Missense_A161V,Missense_A329V,Missense_A320V,Missense_A327V,Missense_A320V exm890366 11 10514930 [A/G] NM_001172431,NM_000480,NM_001025389,NM_001025390,NM_001172430 AMPD3,AMPD3,AMPD3,AMPD3,AMPD3 EXON Missense_N166S,Missense_N334S,Missense_N325S,Missense_N332S,Missense_N325S exm890367 11 10514972 [T/C] NM_001172431,NM_000480,NM_001025389,NM_001025390,NM_001172430 AMPD3,AMPD3,AMPD3,AMPD3,AMPD3 EXON Missense_T180M,Missense_T348M,Missense_T339M,Missense_T346M,Missense_T339M exm890374 11 10515037 [A/G] NM_001172431,NM_000480,NM_001025389,NM_001025390,NM_001172430 AMPD3,AMPD3,AMPD3,AMPD3,AMPD3 EXON Missense_G202S,Missense_G370S,Missense_G361S,Missense_G368S,Missense_G361S exm1692986 11 10516569 [A/G] NM_001172431,NM_000480,NM_001025389,NM_001025390,NM_001172430 AMPD3,AMPD3,AMPD3,AMPD3,AMPD3 EXON Missense_M261V,Missense_M429V,Missense_M420V,Missense_M427V,Missense_M420V exm890385 11 10517126 [T/C] NM_001172431,NM_000480,NM_001025389,NM_001025390,NM_001172430 AMPD3,AMPD3,AMPD3,AMPD3,AMPD3 EXON Missense_R267W,Missense_R435W,Missense_R426W,Missense_R433W,Missense_R426W exm890392 11 10517213 [T/C] NM_001172431,NM_000480,NM_001025389,NM_001025390,NM_001172430 AMPD3,AMPD3,AMPD3,AMPD3,AMPD3 EXON Missense_Y296H,Missense_Y464H,Missense_Y455H,Missense_Y462H,Missense_Y455H exm890394 11 10517243 [A/C] NM_001172431,NM_000480,NM_001025389,NM_001025390,NM_001172430 AMPD3,AMPD3,AMPD3,AMPD3,AMPD3 EXON Missense_P306T,Missense_P474T,Missense_P465T,Missense_P472T,Missense_P465T exm890399 11 10518373 [T/C] NM_001172431,NM_000480,NM_001025389,NM_001025390,NM_001172430 AMPD3,AMPD3,AMPD3,AMPD3,AMPD3 EXON Missense_S323L,Missense_S491L,Missense_S482L,Missense_S489L,Missense_S482L exm890403 11 10518441 [A/G] NM_001172431,NM_000480,NM_001025389,NM_001025390,NM_001172430 AMPD3,AMPD3,AMPD3,AMPD3,AMPD3 EXON Missense_I346V,Missense_I514V,Missense_I505V,Missense_I512V,Missense_I505V exm890405 11 10518459 [T/C] NM_001172431,NM_000480,NM_001025389,NM_001025390,NM_001172430 AMPD3,AMPD3,AMPD3,AMPD3,AMPD3 EXON Nonsense_R352X,Nonsense_R520X,Nonsense_R511X,Nonsense_R518X,Nonsense_R511X exm890411 11 10521644 [T/G] NM_001172431,NM_000480,NM_001025389,NM_001025390,NM_001172430 AMPD3,AMPD3,AMPD3,AMPD3,AMPD3 EXON Missense_F364L,Missense_F532L,Missense_F523L,Missense_F530L,Missense_F523L exm890419 11 10521792 [T/C] NM_001172431,NM_000480,NM_001025389,NM_001025390,NM_001172430 AMPD3,AMPD3,AMPD3,AMPD3,AMPD3 EXON Missense_R414C,Missense_R582C,Missense_R573C,Missense_R580C,Missense_R573C exm890450 11 10527394 [G/C] NM_001172431,NM_000480,NM_001025389,NM_001025390,NM_001172430 AMPD3,AMPD3,AMPD3,AMPD3,AMPD3 EXON Missense_A597G,Missense_A765G,Missense_A756G,Missense_A763G,Missense_A756G exm2273473 11 10536298 [T/C] NM_016422 RNF141 EXON Silent exm2217867 11 10536605 [T/C] NM_016422 RNF141 EXON Missense_R184Q exm2217869 11 10552213 [T/C] NM_016422 RNF141 EXON Missense_V77I exm890485 11 10555632 [A/G] NM_016422 RNF141 EXON Missense_T25M exm890491 11 10580684 [T/C] NR_046374,NR_046375,NR_034094,NR_034093,NM_006691 MRVI1-AS1,MRVI1-AS1,MRVI1-AS1,MRVI1-AS1,LYVE1 EXON Silent,Silent,Silent,Silent,Missense_V315M exm890495 11 10580792 [T/C] NR_046374,NR_046375,NR_034094,NR_034093,NM_006691 MRVI1-AS1,MRVI1-AS1,MRVI1-AS1,MRVI1-AS1,LYVE1 EXON Silent,Silent,Silent,Silent,Missense_E279K exm890500 11 10581382 [A/C] NR_046374,NR_046375,NR_034094,NR_034093,NM_006691 MRVI1-AS1,MRVI1-AS1,MRVI1-AS1,MRVI1-AS1,LYVE1 EXON Silent,Silent,Silent,Silent,Nonsense_G255X exm890508 11 10582104 [A/G] NR_046374,NR_046375,NR_034094,NR_034093,NM_006691 MRVI1-AS1,MRVI1-AS1,MRVI1-AS1,MRVI1-AS1,LYVE1 EXON Silent,Silent,Silent,Silent,Missense_T214I exm890512 11 10582162 [A/G] NR_046374,NR_046375,NR_034094,NR_034093,NM_006691 MRVI1-AS1,MRVI1-AS1,MRVI1-AS1,MRVI1-AS1,LYVE1 EXON Silent,Silent,Silent,Silent,Missense_R195W exm890516 11 10582240 [A/G] NR_046374,NR_046375,NR_034094,NR_034093,NM_006691 MRVI1-AS1,MRVI1-AS1,MRVI1-AS1,MRVI1-AS1,LYVE1 EXON Silent,Silent,Silent,Silent,Missense_Y169H exm890525 11 10585519 [T/C] NR_046374,NR_046375,NR_034094,NR_034093,NM_006691 MRVI1-AS1,MRVI1-AS1,MRVI1-AS1,MRVI1-AS1,LYVE1 EXON Silent,Silent,Silent,Silent,Missense_R122Q exm890528 11 10585573 [A/G] NR_046374,NR_046375,NR_034094,NR_034093,NM_006691 MRVI1-AS1,MRVI1-AS1,MRVI1-AS1,MRVI1-AS1,LYVE1 EXON Silent,Silent,Silent,Silent,Missense_P104L exm890537 11 10585859 [C/G] NR_046374,NR_046375,NR_034094,NR_034093,NM_006691 MRVI1-AS1,MRVI1-AS1,MRVI1-AS1,MRVI1-AS1,LYVE1 EXON Silent,Silent,Silent,Silent,Missense_Q50E exm890538 11 10585864 [A/G] NR_046374,NR_046375,NR_034094,NR_034093,NM_006691 MRVI1-AS1,MRVI1-AS1,MRVI1-AS1,MRVI1-AS1,LYVE1 EXON Silent,Silent,Silent,Silent,Missense_A48V exm890551 11 10602068 [T/C] NR_046374,NR_046375,NR_034094,NR_034093,NM_001100167,NM_130385,NM_001206880,NM_001206881,NM_001098579,NM_001100163 MRVI1-AS1,MRVI1-AS1,MRVI1-AS1,MRVI1-AS1,MRVI1,MRVI1,MRVI1,MRVI1,MRVI1,MRVI1 EXON Silent,Silent,Silent,Silent,Missense_S495N,Missense_S810N,Missense_S604N,Missense_S495N,Missense_S802N,Missense_S719N exm890554 11 10603445 [T/C] NR_046374,NR_046375,NR_034094,NR_034093,NM_001100167,NM_130385,NM_001206880,NM_001206881,NM_001098579,NM_001100163 MRVI1-AS1,MRVI1-AS1,MRVI1-AS1,MRVI1-AS1,MRVI1,MRVI1,MRVI1,MRVI1,MRVI1,MRVI1 EXON Silent,Silent,Silent,Silent,Missense_A462T,Missense_A777T,Missense_A571T,Missense_A462T,Missense_A769T,Missense_A686T exm890556 11 10603483 [A/G] NR_046374,NR_046375,NR_034094,NR_034093,NM_001100167,NM_130385,NM_001206880,NM_001206881,NM_001098579,NM_001100163 MRVI1-AS1,MRVI1-AS1,MRVI1-AS1,MRVI1-AS1,MRVI1,MRVI1,MRVI1,MRVI1,MRVI1,MRVI1 EXON Silent,Silent,Silent,Silent,Missense_T449I,Missense_T764I,Missense_T558I,Missense_T449I,Missense_T756I,Missense_T673I exm890557 11 10603489 [A/G] NR_046374,NR_046375,NR_034094,NR_034093,NM_001100167,NM_130385,NM_001206880,NM_001206881,NM_001098579,NM_001100163 MRVI1-AS1,MRVI1-AS1,MRVI1-AS1,MRVI1-AS1,MRVI1,MRVI1,MRVI1,MRVI1,MRVI1,MRVI1 EXON Silent,Silent,Silent,Silent,Missense_A447V,Missense_A762V,Missense_A556V,Missense_A447V,Missense_A754V,Missense_A671V exm890559 11 10603528 [T/C] NR_046374,NR_046375,NR_034094,NR_034093,NM_001100167,NM_130385,NM_001206880,NM_001206881,NM_001098579,NM_001100163 MRVI1-AS1,MRVI1-AS1,MRVI1-AS1,MRVI1-AS1,MRVI1,MRVI1,MRVI1,MRVI1,MRVI1,MRVI1 EXON Silent,Silent,Silent,Silent,Missense_K434R,Missense_K749R,Missense_K543R,Missense_K434R,Missense_K741R,Missense_K658R exm2249538 11 10622544 [T/C] NM_001100167,NM_130385,NM_001206880,NM_001206881,NM_001098579,NM_001100163 MRVI1,MRVI1,MRVI1,MRVI1,MRVI1,MRVI1 EXON Synonymous_T331T,Synonymous_T646T,Synonymous_T440T,Synonymous_T331T,Synonymous_T638T,Synonymous_T555T exm890586 11 10624764 [T/C] NM_001100167,NM_130385,NM_001206880,NM_001206881,NM_001098579,NM_001100163 MRVI1,MRVI1,MRVI1,MRVI1,MRVI1,MRVI1 EXON Missense_R278Q,Missense_R593Q,Missense_R387Q,Missense_R278Q,Missense_R585Q,Missense_R502Q exm890591 11 10626030 [A/C] NM_001100167,NM_130385,NM_001206880,NM_001206881,NM_001098579,NM_001100163 MRVI1,MRVI1,MRVI1,MRVI1,MRVI1,MRVI1 EXON Missense_I240M,Missense_I555M,Missense_I349M,Missense_I240M,Missense_I547M,Missense_I464M exm890592 11 10626032 [T/C] NM_001100167,NM_130385,NM_001206880,NM_001206881,NM_001098579,NM_001100163 MRVI1,MRVI1,MRVI1,MRVI1,MRVI1,MRVI1 EXON Missense_I240V,Missense_I555V,Missense_I349V,Missense_I240V,Missense_I547V,Missense_I464V exm890593 11 10626052 [G/C] NM_001100167,NM_130385,NM_001206880,NM_001206881,NM_001098579,NM_001100163 MRVI1,MRVI1,MRVI1,MRVI1,MRVI1,MRVI1 EXON Missense_S233T,Missense_S548T,Missense_S342T,Missense_S233T,Missense_S540T,Missense_S457T exm890599 11 10631309 [T/G] NM_001100167,NM_130385,NM_001206880,NM_001206881,NM_001098579,NM_001100163 MRVI1,MRVI1,MRVI1,MRVI1,MRVI1,MRVI1 EXON Missense_R198S,Missense_R513S,Missense_R307S,Missense_R198S,Missense_R505S,Missense_R422S exm890607 11 10647602 [T/C] NM_001100167,NM_130385,NM_001206880,NM_001206881,NM_001098579,NM_001100163 MRVI1,MRVI1,MRVI1,MRVI1,MRVI1,MRVI1 EXON Missense_G112S,Missense_G427S,Silent,Missense_G112S,Missense_G419S,Missense_G336S exm890611 11 10647668 [A/G] NM_001100167,NM_130385,NM_001206880,NM_001206881,NM_001098579,NM_001100163 MRVI1,MRVI1,MRVI1,MRVI1,MRVI1,MRVI1 EXON Missense_R90W,Missense_R405W,Silent,Missense_R90W,Missense_R397W,Missense_R314W exm890614 11 10647743 [A/G] NM_001100167,NM_130385,NM_001206880,NM_001206881,NM_001098579,NM_001100163 MRVI1,MRVI1,MRVI1,MRVI1,MRVI1,MRVI1 EXON Missense_L65F,Missense_L380F,Silent,Missense_L65F,Missense_L372F,Missense_L289F exm890620 11 10647871 [G/C] NM_001100167,NM_130385,NM_001206880,NM_001206881,NM_001098579,NM_001100163 MRVI1,MRVI1,MRVI1,MRVI1,MRVI1,MRVI1 EXON Missense_T22R,Missense_T337R,Silent,Missense_T22R,Missense_T329R,Missense_T246R exm890621 11 10647880 [A/C] NM_001100167,NM_130385,NM_001206880,NM_001206881,NM_001098579,NM_001100163 MRVI1,MRVI1,MRVI1,MRVI1,MRVI1,MRVI1 EXON Missense_L19R,Missense_L334R,Silent,Missense_L19R,Missense_L326R,Missense_L243R exm890622 11 10647898 [T/C] NM_001100167,NM_130385,NM_001206880,NM_001206881,NM_001098579,NM_001100163 MRVI1,MRVI1,MRVI1,MRVI1,MRVI1,MRVI1 EXON Missense_S13N,Missense_S328N,Silent,Missense_S13N,Missense_S320N,Missense_S237N exm890623 11 10647905 [T/C] NM_001100167,NM_130385,NM_001206880,NM_001206881,NM_001098579,NM_001100163 MRVI1,MRVI1,MRVI1,MRVI1,MRVI1,MRVI1 EXON Missense_V11M,Missense_V326M,Silent,Missense_V11M,Missense_V318M,Missense_V235M exm890624 11 10647956 [T/C] NM_001100167,NM_130385,NM_001206880,NM_001206881,NM_001098579,NM_001100163 MRVI1,MRVI1,MRVI1,MRVI1,MRVI1,MRVI1 EXON Silent,Missense_V309I,Silent,Silent,Missense_V301I,Missense_V218I exm890626 11 10647977 [T/C] NM_001100167,NM_130385,NM_001206880,NM_001206881,NM_001098579,NM_001100163 MRVI1,MRVI1,MRVI1,MRVI1,MRVI1,MRVI1 EXON Silent,Missense_T302A,Silent,Silent,Missense_T294A,Missense_T211A exm890627 11 10647995 [A/G] NM_001100167,NM_130385,NM_001206880,NM_001206881,NM_001098579,NM_001100163 MRVI1,MRVI1,MRVI1,MRVI1,MRVI1,MRVI1 EXON Silent,Missense_L296F,Silent,Silent,Missense_L288F,Missense_L205F exm890628 11 10648001 [T/C] NM_001100167,NM_130385,NM_001206880,NM_001206881,NM_001098579,NM_001100163 MRVI1,MRVI1,MRVI1,MRVI1,MRVI1,MRVI1 EXON Silent,Missense_D294N,Silent,Silent,Missense_D286N,Missense_D203N exm1693263 11 10648029 [A/C] NM_001100167,NM_130385,NM_001206880,NM_001206881,NM_001098579,NM_001100163 MRVI1,MRVI1,MRVI1,MRVI1,MRVI1,MRVI1 EXON Silent,Missense_E284D,Silent,Silent,Missense_E276D,Missense_E193D exm890630 11 10648129 [T/C] NM_001100167,NM_130385,NM_001206880,NM_001206881,NM_001098579,NM_001100163 MRVI1,MRVI1,MRVI1,MRVI1,MRVI1,MRVI1 EXON Silent,Missense_N251S,Silent,Silent,Missense_N243S,Missense_N160S exm890632 11 10649297 [T/G] NM_001100167,NM_130385,NM_001206880,NM_001206881,NM_001098579,NM_001100163 MRVI1,MRVI1,MRVI1,MRVI1,MRVI1,MRVI1 EXON Silent,Missense_E239A,Missense_E239A,Silent,Missense_E231A,Missense_E148A exm1693268 11 10649543 [A/G] NM_001100167,NM_130385,NM_001206880,NM_001206881,NM_001098579,NM_001100163 MRVI1,MRVI1,MRVI1,MRVI1,MRVI1,MRVI1 EXON Silent,Missense_P228S,Missense_P228S,Silent,Missense_P219S,Missense_P137S exm890640 11 10650367 [A/G] NM_001100167,NM_130385,NM_001206880,NM_001206881,NM_001098579,NM_001100163 MRVI1,MRVI1,MRVI1,MRVI1,MRVI1,MRVI1 EXON Silent,Missense_P195S,Missense_P195S,Silent,Missense_P186S,Missense_P104S exm890646 11 10651252 [A/G] NM_001100167,NM_130385,NM_001206880,NM_001206881,NM_001098579,NM_001100163 MRVI1,MRVI1,MRVI1,MRVI1,MRVI1,MRVI1 EXON Silent,Missense_A136V,Missense_A136V,Silent,Missense_A127V,Missense_A45V exm890654 11 10653591 [T/C] NM_001100167,NM_130385,NM_001206880,NM_001206881,NM_001098579,NM_001100163 MRVI1,MRVI1,MRVI1,MRVI1,MRVI1,MRVI1 EXON Silent,Missense_K116R,Missense_K116R,Silent,Missense_K107R,Missense_K25R exm890658 11 10655609 [T/C] NM_001100167,NM_130385,NM_001206880,NM_001206881,NM_001098579,NM_001100163 MRVI1,MRVI1,MRVI1,MRVI1,MRVI1,MRVI1 EXON Silent,Missense_A79T,Missense_A79T,Silent,Missense_A70T,Silent exm-rs7940646 11 10669228 [T/C] NM_001100167,NM_130385,NM_001206880,NM_001206881,NM_001098579,NM_001100163 MRVI1,MRVI1,MRVI1,MRVI1,MRVI1,MRVI1 Silent,Silent,Silent,Silent,Silent,Silent exm890667 11 10673688 [T/C] NM_001100167,NM_130385,NM_001206880,NM_001206881,NM_001098579,NM_001100163 MRVI1,MRVI1,MRVI1,MRVI1,MRVI1,MRVI1 EXON Silent,Missense_A37T,Missense_A37T,Silent,Missense_A28T,Silent exm890669 11 10673739 [T/C] NM_001100167,NM_130385,NM_001206880,NM_001206881,NM_001098579,NM_001100163 MRVI1,MRVI1,MRVI1,MRVI1,MRVI1,MRVI1 EXON Silent,Silent,Silent,Silent,Missense_I11V,Silent exm890674 11 10715124 [T/C] NM_130385,NM_001206880,NM_001206881,NM_001100163 MRVI1,MRVI1,MRVI1,MRVI1 EXON Missense_E9G,Missense_E9G,Silent,Silent exm-rs11042937 11 10745394 [T/G] exm2249544 11 10785697 [T/C] NM_014633 CTR9 EXON Synonymous_D411D exm890704 11 10785697 [T/C] NM_014633 CTR9 EXON Synonymous_D411D exm890716 11 10788037 [C/G] NM_014633 CTR9 EXON Missense_Q562H exm890732 11 10791787 [T/C] NM_014633 CTR9 EXON Missense_H714Y exm2267252 11 10791983 [A/G] NM_014633 CTR9 Silent exm890768 11 10796810 [G/C] NM_014633 CTR9 EXON Missense_P981R exm890776 11 10800276 [A/G] NM_014633 CTR9 EXON Missense_R1049Q exm890777 11 10800279 [A/G] NM_014633 CTR9 EXON Missense_K1050R exm890778 11 10800284 [T/C] NM_014633 CTR9 EXON Missense_C1052R exm890779 11 10800287 [T/G] NM_014633 CTR9 EXON Missense_A1053S exm890784 11 10800341 [A/G] NM_014633 CTR9 EXON Missense_G1071S exm890786 11 10800414 [A/G] NM_014633 CTR9 EXON Missense_R1095K exm890793 11 10800579 [A/G] NM_014633 CTR9 EXON Missense_E1150G exm2273474 11 10819321 [C/G] NM_001418,NM_001172705,NM_001042559 EIF4G2,EIF4G2,EIF4G2 EXON Silent,Silent,Silent exm890834 11 10821799 [T/A] NM_001418,NM_001172705,NM_001042559 EIF4G2,EIF4G2,EIF4G2 EXON Missense_S653T,Missense_S653T,Missense_S615T exm890845 11 10822178 [T/G] NM_001418,NM_001172705,NM_001042559 EIF4G2,EIF4G2,EIF4G2 EXON Missense_E554A,Missense_E554A,Missense_E516A exm890915 11 10825834 [A/G] NM_001418,NM_001172705,NM_001042559 EIF4G2,EIF4G2,EIF4G2 EXON Synonymous_T161T,Synonymous_T161T,Synonymous_T161T exm890917 11 10825861 [A/C] NM_001418,NM_001172705,NM_001042559 EIF4G2,EIF4G2,EIF4G2 EXON Missense_E152D,Missense_E152D,Missense_E152D exm890918 11 10825868 [A/G] NM_001418,NM_001172705,NM_001042559 EIF4G2,EIF4G2,EIF4G2 EXON Missense_A150V,Missense_A150V,Missense_A150V exm890985 11 10874853 [T/C] NM_001143667,NM_021211 ZBED5,ZBED5 EXON Missense_S547N,Missense_S547N exm890986 11 10874862 [A/T] NM_001143667,NM_021211 ZBED5,ZBED5 EXON Missense_D544V,Missense_D544V exm890990 11 10875055 [T/C] NM_001143667,NM_021211 ZBED5,ZBED5 EXON Missense_I480V,Missense_I480V exm890995 11 10875370 [A/G] NM_001143667,NM_021211 ZBED5,ZBED5 EXON Missense_Y375H,Missense_Y375H exm891001 11 10875591 [A/G] NM_001143667,NM_021211 ZBED5,ZBED5 EXON Missense_I301T,Missense_I301T exm891022 11 10876353 [T/C] NM_001143667,NM_021211 ZBED5,ZBED5 EXON Missense_Q47R,Missense_Q47R exm891024 11 10876443 [A/G] NM_001143667,NM_021211 ZBED5,ZBED5 EXON Missense_A17V,Missense_A17V exm2249561 11 11051740 [A/G] exm891038 11 11292768 [T/C] NM_198516 GALNT18 EXON Missense_G583S exm1694931 11 11314582 [A/G] NM_198516 GALNT18 EXON Synonymous_F557F exm891051 11 11314653 [T/C] NM_198516 GALNT18 EXON Missense_V534I exm2217978 11 11348640 [A/G] NM_198516 GALNT18 EXON Missense_T502M exm891059 11 11348660 [C/G] NM_198516 GALNT18 EXON Missense_M495I exm891061 11 11348721 [T/C] NM_198516 GALNT18 EXON Missense_N475S exm-rs4909989 11 11359886 [A/G] NM_198516 GALNT18 Silent exm891076 11 11362458 [T/C] NM_198516 GALNT18 EXON Missense_A396T exm2259697 11 11367614 [T/C] NM_198516 GALNT18 Silent exm891104 11 11398738 [A/G] NM_198516 GALNT18 EXON Missense_A323V exm891112 11 11400647 [T/C] NM_198516 GALNT18 EXON Missense_V254M exm891127 11 11454291 [T/C] NM_198516 GALNT18 EXON Missense_I158V exm891132 11 11470353 [T/G] NM_198516 GALNT18 EXON Nonsense_Y122X exm-rs4910407 11 11700694 [A/C] exm891143 11 11906050 [G/C] NM_017944 USP47 EXON Missense_D26H exm891145 11 11906118 [A/C] NM_017944 USP47 EXON Missense_Q48H exm891148 11 11913524 [A/G] NM_017944 USP47 EXON Missense_S55G exm891152 11 11913585 [T/G] NM_017944 USP47 EXON Missense_G75V exm2249612 11 11924337 [A/G] NM_017944 USP47 EXON Synonymous_L155L exm891156 11 11924811 [T/C] NM_017944 USP47 EXON Synonymous_A179A exm891157 11 11924827 [A/G] NM_017944 USP47 EXON Missense_V185I exm1697637 11 11941964 [T/C] NM_017944 USP47 EXON Missense_H313Y exm891185 11 11951637 [A/G] NM_017944 USP47 EXON Missense_S454N exm891210 11 11963960 [T/C] NM_017944 USP47 EXON Missense_H730Y exm891214 11 11964050 [A/G] NM_017944 USP47 EXON Missense_D760N exm891216 11 11964069 [A/G] NM_017944 USP47 EXON Missense_D766G exm1697719 11 11964077 [A/G] NM_017944 USP47 EXON Missense_E769K exm891229 11 11964541 [A/C] NM_017944 USP47 EXON Missense_E923D exm891236 11 11970095 [A/G] NM_017944 USP47 EXON Missense_N1045S exm891242 11 11971545 [T/C] NM_017944 USP47 EXON Missense_I1085T exm891273 11 11986051 [A/G] NM_013253,NM_001018057,NM_015881 DKK3,DKK3,DKK3 EXON Missense_A338V,Missense_A338V,Missense_A338V exm891275 11 11986061 [T/C] NM_013253,NM_001018057,NM_015881 DKK3,DKK3,DKK3 EXON Missense_R335G,Missense_R335G,Missense_R335G exm891277 11 11986083 [C/G] NM_013253,NM_001018057,NM_015881 DKK3,DKK3,DKK3 EXON Missense_S327R,Missense_S327R,Missense_S327R exm891278 11 11986108 [T/C] NM_013253,NM_001018057,NM_015881 DKK3,DKK3,DKK3 EXON Missense_Q319R,Missense_Q319R,Missense_Q319R exm891282 11 11986144 [T/C] NM_013253,NM_001018057,NM_015881 DKK3,DKK3,DKK3 EXON Missense_E307G,Missense_E307G,Missense_E307G exm891283 11 11986150 [A/G] NM_013253,NM_001018057,NM_015881 DKK3,DKK3,DKK3 EXON Missense_P305L,Missense_P305L,Missense_P305L exm891298 11 11988635 [T/C] NM_013253,NM_001018057,NM_015881 DKK3,DKK3,DKK3 EXON Missense_R180Q,Missense_R180Q,Missense_R180Q exm891316 11 12023921 [T/C] NM_013253,NM_001018057,NM_015881 DKK3,DKK3,DKK3 EXON Missense_S93G,Missense_S93G,Missense_S93G exm2271463 11 12083579 [T/G] exm891328 11 12183737 [T/C] NM_014632 MICAL2 EXON Missense_A12V exm891331 11 12183775 [T/G] NM_014632 MICAL2 EXON Missense_C25G exm891332 11 12183793 [A/G] NM_014632 MICAL2 EXON Missense_A31T exm891337 11 12183822 [A/C] NM_014632 MICAL2 EXON Missense_D40E exm891338 11 12183823 [G/C] NM_014632 MICAL2 EXON Missense_L41V exm1698385 11 12183859 [T/C] NM_014632 MICAL2 EXON Missense_L53F exm891346 11 12225829 [T/G] NM_014632 MICAL2 EXON Missense_L99F exm891349 11 12225869 [A/G] NM_014632 MICAL2 EXON Missense_V113I exm1698412 11 12225995 [A/G] NM_014632 MICAL2 EXON Missense_D155N exm891371 11 12231112 [A/G] NM_014632 MICAL2 EXON Missense_I220V exm1698424 11 12237861 [A/G] NM_014632 MICAL2 EXON Missense_I315V exm891386 11 12241818 [A/G] NM_014632 MICAL2 EXON Missense_R340Q exm891391 11 12241903 [A/G] NM_014632 MICAL2 EXON Missense_M368I exm891392 11 12241934 [T/A] NM_014632 MICAL2 EXON Missense_N379Y exm2218141 11 12241949 [T/C] NM_014632 MICAL2 EXON Missense_R384W exm891394 11 12241950 [A/G] NM_014632 MICAL2 EXON Missense_R384Q exm1698438 11 12241962 [T/C] NM_014632 MICAL2 EXON Missense_A388V exm891402 11 12243264 [A/G] NM_014632 MICAL2 EXON Missense_S427N exm891415 11 12244998 [T/C] NM_014632 MICAL2 EXON Missense_P497L exm-rs6485587 11 12245343 [T/C] NM_014632 MICAL2 Silent exm891435 11 12246348 [T/C] NM_014632 MICAL2 EXON Missense_R557C exm891438 11 12246355 [A/G] NM_014632 MICAL2 EXON Missense_R559Q exm891441 11 12247770 [T/A] NM_014632 MICAL2 EXON Missense_F581I exm891443 11 12247782 [A/G] NM_014632 MICAL2 EXON Missense_E585K exm891445 11 12247786 [A/G] NM_014632 MICAL2 EXON Missense_R586Q exm891448 11 12247851 [T/C] NM_014632 MICAL2 EXON Missense_L608F exm891468 11 12257778 [A/G] NM_014632 MICAL2 EXON Missense_T684A exm891469 11 12257789 [C/G] NM_014632 MICAL2 EXON Missense_D687E exm891476 11 12261001 [T/C] NM_014632 MICAL2 EXON Missense_R695C exm891485 11 12261110 [A/G] NM_014632 MICAL2 EXON Missense_R731Q exm891488 11 12262594 [A/G] NM_014632 MICAL2 EXON Missense_R741H exm891523 11 12277191 [T/G] NM_014632 MICAL2 EXON Missense_L950R exm891526 11 12277214 [A/G] NM_014632 MICAL2 EXON Missense_G958R exm891530 11 12278335 [A/T] NM_014632 MICAL2 EXON Missense_S987T exm891535 11 12278417 [A/G] NM_014632 MICAL2 EXON Missense_R1014Q exm891540 11 12278492 [T/C] NM_014632 MICAL2 EXON Missense_A1039V exm891541 11 12278494 [A/G] NM_014632 MICAL2 EXON Missense_A1040T exm2218147 11 12281376 [A/G] NM_014632 MICAL2 EXON Missense_R1089Q exm891554 11 12281427 [T/C] NM_014632 MICAL2 EXON Missense_L1106P exm891555 11 12281438 [T/C] NM_014632 MICAL2 EXON Missense_P1110S exm891560 11 12284063 [A/G] NM_014632 MICAL2 EXON Missense_G1124D exm891564 11 12313734 [T/C] NM_032867 MICALCL EXON Missense_P7S exm891567 11 12313837 [T/C] NM_032867 MICALCL EXON Missense_P41L exm891574 11 12315175 [A/G] NM_032867 MICALCL EXON Missense_R66Q exm891579 11 12315256 [A/C] NM_032867 MICALCL EXON Missense_Y93S exm1698723 11 12315636 [A/G] NM_032867 MICALCL EXON Missense_G220R exm891594 11 12315642 [T/C] NM_032867 MICALCL EXON Missense_R222C exm891596 11 12315661 [A/G] NM_032867 MICALCL EXON Missense_R228H exm891602 11 12315760 [A/G] NM_032867 MICALCL EXON Missense_R261Q exm891605 11 12315838 [A/G] NM_032867 MICALCL EXON Missense_N287S exm891608 11 12315863 [A/G] NM_032867 MICALCL EXON Nonsense_W295X exm891609 11 12315891 [A/G] NM_032867 MICALCL EXON Missense_A305T exm891611 11 12315914 [A/C] NM_032867 MICALCL EXON Missense_F312L exm891612 11 12315915 [A/G] NM_032867 MICALCL EXON Missense_S313G exm891614 11 12315945 [A/G] NM_032867 MICALCL EXON Missense_G323R exm891615 11 12316009 [A/G] NM_032867 MICALCL EXON Missense_R344H exm891617 11 12316018 [A/G] NM_032867 MICALCL EXON Missense_S347N exm891618 11 12316029 [T/C] NM_032867 MICALCL EXON Missense_R351W exm891619 11 12316030 [A/G] NM_032867 MICALCL EXON Missense_R351Q exm891623 11 12316085 [A/T] NM_032867 MICALCL EXON Missense_D369E exm891625 11 12316119 [A/G] NM_032867 MICALCL EXON Missense_E381K exm891626 11 12316135 [G/C] NM_032867 MICALCL EXON Missense_A386G exm891628 11 12316146 [A/C] NM_032867 MICALCL EXON Missense_P390T exm891632 11 12316327 [A/C] NM_032867 MICALCL EXON Missense_T450N exm2218155 11 12345596 [T/G] NM_032867 MICALCL EXON Missense_L538F exm891665 11 12376358 [A/T] NM_032867 MICALCL EXON Missense_H619Q exm891676 11 12379949 [T/C] NM_032867 MICALCL EXON Missense_R671C exm2259711 11 12383869 [A/G] exm-rs7120489 11 12469397 [A/G] NM_018222 PARVA Silent exm891696 11 12525924 [A/G] NM_018222 PARVA EXON Missense_R242H exm891707 11 12533071 [A/G] NM_018222 PARVA EXON Missense_G283R exm891715 11 12539226 [T/C] NM_018222 PARVA EXON Missense_F353L exm2271464 11 12544361 [T/C] NM_018222 PARVA Silent exm-rs7926971 11 12698040 [A/G] NM_021961 TEAD1 Silent exm2271584 11 12828092 [T/C] NM_021961 TEAD1 Silent exm891746 11 12903443 [T/C] NM_021961 TEAD1 EXON Synonymous_D171D exm891756 11 12904671 [T/C] NM_021961 TEAD1 EXON Missense_S233L exm891758 11 12923491 [A/G] NM_021961 TEAD1 EXON Missense_N235S exm891770 11 12951830 [A/G] NM_021961 TEAD1 EXON Missense_K375R exm891822 11 13031880 [A/G] NM_001080521 RASSF10 EXON Missense_I253V exm891827 11 13031958 [A/G] NM_001080521 RASSF10 EXON Missense_V279I exm891853 11 13032405 [A/G] NM_001080521 RASSF10 EXON Missense_E428K exm891855 11 13032511 [C/G] NM_001080521 RASSF10 EXON Missense_C463S exm-rs900145 11 13293905 [T/C] exm2267150 11 13350131 [A/G] NM_001030272,NM_001030273,NM_001178 ARNTL,ARNTL,ARNTL Silent,Silent,Silent exm891861 11 13375919 [A/G] NM_001030272,NM_001030273,NM_001178 ARNTL,ARNTL,ARNTL EXON Missense_D22N,Silent,Missense_D22N exm891911 11 13402787 [T/C] NM_001030272,NM_001030273,NM_001178 ARNTL,ARNTL,ARNTL EXON Missense_P534S,Missense_P491S,Missense_P534S exm1701613 11 13435158 [T/C] NM_032320 BTBD10 EXON Missense_I243V exm891948 11 13441158 [T/C] NM_032320 BTBD10 EXON Missense_T145A exm891960 11 13443354 [T/C] NM_032320 BTBD10 EXON Missense_D45N exm891977 11 13514104 [T/C] NM_000315 PTH EXON Missense_V66I exm-rs9630182 11 13620172 [T/C] exm891991 11 13716487 [A/G] NM_032228 FAR1 EXON Missense_V59I exm891996 11 13721960 [A/G] NM_032228 FAR1 EXON Missense_E96K exm892039 11 13750296 [A/G] NM_032228 FAR1 EXON Missense_R508Q exm2267254 11 13934928 [A/G] exm892063 11 14096939 [G/C] NM_006108 SPON1 EXON Missense_S176C exm892068 11 14101530 [A/G] NM_006108 SPON1 EXON Missense_G213E exm892069 11 14156994 [T/C] NM_006108 SPON1 EXON Missense_S235L exm2267151 11 14233522 [A/G] NM_006108 SPON1 Silent exm-rs1025412 11 14246296 [A/G] NM_006108 SPON1 Silent exm2218319 11 14264886 [A/G] NM_006108 SPON1 EXON Missense_R278K exm892076 11 14264901 [T/C] NM_006108 SPON1 EXON Missense_S283L exm892077 11 14264916 [A/G] NM_006108 SPON1 EXON Missense_N288S exm-rs7102710 11 14265613 [T/C] NM_006108 SPON1 Silent exm892084 11 14276146 [T/C] NM_006108 SPON1 EXON Missense_A321V exm892086 11 14276245 [T/C] NM_006108 SPON1 EXON Missense_T354M exm-rs2303975 11 14276999 [A/G] NM_006108 SPON1 Silent exm892090 11 14277230 [A/G] NM_006108 SPON1 EXON Missense_G377S exm892099 11 14279404 [A/G] NM_006108 SPON1 EXON Missense_R484K exm1701854 11 14280827 [T/C] NM_006108 SPON1 EXON Missense_T498M exm892108 11 14281120 [T/C] NM_006108 SPON1 EXON Missense_T568M exm892117 11 14282286 [G/C] NM_006108 SPON1 EXON Missense_C661W exm892121 11 14284388 [T/C] NM_006108 SPON1 EXON Missense_L709P exm892123 11 14284396 [T/G] NM_006108 SPON1 EXON Nonsense_E712X exm892125 11 14284427 [A/C] NM_006108 SPON1 EXON Missense_E722A exm2218320 11 14284474 [A/G] NM_006108 SPON1 EXON Missense_G738S exm1701864 11 14284477 [A/G] NM_006108 SPON1 EXON Missense_G739R exm892133 11 14287159 [A/C] NM_006108 SPON1 EXON Missense_R783S exm892150 11 14316410 [T/A] NM_001102669,NM_012250,NM_001177315,NM_001177314 RRAS2,RRAS2,RRAS2,RRAS2 Silent,Silent,Silent,Silent exm892157 11 14480121 [T/C] NM_001144062,NM_001144061,NM_016451 COPB1,COPB1,COPB1 EXON Missense_D920G,Missense_D920G,Missense_D920G exm892158 11 14480137 [T/C] NM_001144062,NM_001144061,NM_016451 COPB1,COPB1,COPB1 EXON Missense_I915V,Missense_I915V,Missense_I915V exm892166 11 14486502 [T/C] NM_001144062,NM_001144061,NM_016451 COPB1,COPB1,COPB1 EXON Missense_V789I,Missense_V789I,Missense_V789I exm892184 11 14491075 [T/G] NM_001144062,NM_001144061,NM_016451 COPB1,COPB1,COPB1 EXON Missense_T591N,Missense_T591N,Missense_T591N exm892187 11 14496079 [A/G] NM_001144062,NM_001144061,NM_016451 COPB1,COPB1,COPB1 EXON Missense_R567C,Missense_R567C,Missense_R567C exm892191 11 14496161 [T/A] NM_001144062,NM_001144061,NM_016451 COPB1,COPB1,COPB1 EXON Missense_R539S,Missense_R539S,Missense_R539S exm892197 11 14498499 [T/C] NM_001144062,NM_001144061,NM_016451 COPB1,COPB1,COPB1 EXON Missense_S474N,Missense_S474N,Missense_S474N exm892200 11 14501166 [A/C] NM_001144062,NM_001144061,NM_016451 COPB1,COPB1,COPB1 EXON Missense_M436R,Missense_M436R,Missense_M436R exm892216 11 14502339 [T/C] NM_001144062,NM_001144061,NM_016451 COPB1,COPB1,COPB1 EXON Missense_R393Q,Missense_R393Q,Missense_R393Q exm892222 11 14504658 [T/C] NM_001144062,NM_001144061,NM_016451 COPB1,COPB1,COPB1 EXON Missense_S293G,Missense_S293G,Missense_S293G exm892256 11 14535367 [T/A] NM_002786,NM_148976 PSMA1,PSMA1 EXON Missense_Y137F,Missense_Y143F exm892285 11 14665749 [T/C] NM_000922 PDE3B EXON Missense_P43L exm892304 11 14666116 [A/C] NM_000922 PDE3B EXON Missense_D165E exm892325 11 14808195 [C/G] NM_000922 PDE3B EXON Missense_E414D exm892327 11 14808224 [T/G] NM_000922 PDE3B EXON Missense_L424R exm892341 11 14840696 [T/C] NM_000922 PDE3B EXON Missense_M583T exm892344 11 14840728 [A/G] NM_000922 PDE3B EXON Missense_G594S exm2267152 11 14852490 [A/G] NM_000922 PDE3B Silent exm892352 11 14853242 [A/G] NM_000922 PDE3B EXON Missense_I671M exm892359 11 14865400 [A/G] NM_000922 PDE3B EXON Missense_R783Q exm892392 11 14889208 [A/G] NM_000922 PDE3B EXON Missense_E1015K exm1702317 11 14891034 [A/G] NM_000922 PDE3B EXON Missense_R1056Q exm892398 11 14891141 [G/C] NM_000922 PDE3B EXON Missense_E1092Q exm892409 11 14899811 [A/G] NM_024514 CYP2R1 EXON Missense_R455W exm892419 11 14900843 [T/C] NM_024514 CYP2R1 EXON Missense_T383A exm1702325 11 14900875 [C/G] NM_024514 CYP2R1 EXON Missense_C372S exm892421 11 14900986 [T/C] NM_024514 CYP2R1 EXON Missense_Q335R exm892437 11 14902215 [C/G] NM_024514 CYP2R1 EXON Missense_S156C exm892446 11 14907393 [A/G] NM_024514 CYP2R1 EXON Missense_L99P exm892456 11 14913645 [A/G] NM_024514 CYP2R1 EXON Missense_P36L exm892462 11 14913748 [A/G] NM_024514 CYP2R1 EXON Missense_W2R exm-rs10741657 11 14914878 [A/G] exm-rs2060793 11 14915310 [A/G] exm892463 11 14989264 [A/G] NM_001033953 CALCA EXON Missense_R122C exm892467 11 14989392 [A/G] NM_001033953 CALCA EXON Missense_A79V exm2249702 11 14990453 [A/G] NM_001033953,NM_001033952,NM_001741 CALCA,CALCA,CALCA EXON Silent,Synonymous_F106F,Synonymous_F106F exm892480 11 14990543 [T/G] NM_001033953,NM_001033952,NM_001741 CALCA,CALCA,CALCA EXON Silent,Missense_S76R,Missense_S76R exm892481 11 14991509 [T/C] NM_001033953,NM_001033952,NM_001741 CALCA,CALCA,CALCA EXON Missense_E67K,Missense_E67K,Missense_E67K exm892487 11 14991586 [A/G] NM_001033953,NM_001033952,NM_001741 CALCA,CALCA,CALCA EXON Missense_T41M,Missense_T41M,Missense_T41M exm892495 11 14992735 [G/C] NM_001033953,NM_001033952,NM_001741 CALCA,CALCA,CALCA EXON Missense_G2R,Missense_G2R,Missense_G2R exm892520 11 15134023 [A/G] NM_001031853 INSC EXON Missense_R3Q exm2267255 11 15164117 [A/G] NM_001031853,NM_001042536 INSC,INSC Silent,Silent exm892527 11 15170676 [A/G] NM_001031853,NM_001042536 INSC,INSC EXON Missense_G33S,Silent exm892529 11 15170682 [A/G] NM_001031853,NM_001042536 INSC,INSC EXON Missense_D35N,Silent exm892530 11 15170686 [A/G] NM_001031853,NM_001042536 INSC,INSC EXON Missense_R36H,Silent exm892533 11 15170743 [A/G] NM_001031853,NM_001042536 INSC,INSC EXON Missense_R55H,Missense_R8H exm892537 11 15170776 [A/G] NM_001031853,NM_001042536 INSC,INSC EXON Missense_R66Q,Missense_R19Q exm892541 11 15197354 [A/G] NM_001031853,NM_001042536 INSC,INSC EXON Missense_E89K,Missense_E42K exm892543 11 15197442 [T/G] NM_001031853,NM_001042536 INSC,INSC EXON Missense_G118V,Missense_G71V exm892545 11 15197468 [T/C] NM_001031853,NM_001042536 INSC,INSC EXON Missense_R127W,Missense_R80W exm892554 11 15197573 [A/C] NM_001031853,NM_001042536 INSC,INSC EXON Missense_R162S,Missense_R115S exm1702466 11 15197587 [A/C] NM_001031853,NM_001042536 INSC,INSC EXON Missense_S166R,Missense_S119R exm892557 11 15197595 [T/G] NM_001031853,NM_001042536 INSC,INSC EXON Missense_S169I,Missense_S122I exm892560 11 15197630 [G/C] NM_001031853,NM_001042536 INSC,INSC EXON Missense_E181Q,Missense_E134Q exm892563 11 15198685 [T/C] NM_001031853,NM_001042536 INSC,INSC EXON Missense_S191L,Missense_S144L exm892567 11 15199912 [T/G] NM_001031853,NM_001042536 INSC,INSC EXON Missense_K213N,Missense_K166N exm892577 11 15222382 [A/G] NM_001031853,NM_001042536 INSC,INSC EXON Missense_V283I,Missense_V236I exm892583 11 15222466 [A/G] NM_001031853,NM_001042536 INSC,INSC EXON Missense_V311M,Missense_V264M exm892585 11 15243047 [A/G] NM_001031853,NM_001042536 INSC,INSC EXON Missense_D329N,Missense_D282N exm892586 11 15243059 [A/G] NM_001031853,NM_001042536 INSC,INSC EXON Missense_D333N,Missense_D286N exm892596 11 15243179 [A/G] NM_001031853,NM_001042536 INSC,INSC EXON Missense_V373M,Missense_V326M exm1702505 11 15247284 [A/C] NM_001031853,NM_001042536 INSC,INSC EXON Nonsense_C407X,Nonsense_C360X exm892602 11 15247307 [A/C] NM_001031853,NM_001042536 INSC,INSC EXON Missense_A415D,Missense_A368D exm892604 11 15247310 [T/G] NM_001031853,NM_001042536 INSC,INSC EXON Missense_I416S,Missense_I369S exm892605 11 15247313 [A/G] NM_001031853,NM_001042536 INSC,INSC EXON Missense_R417H,Missense_R370H exm892606 11 15247355 [T/C] NM_001031853,NM_001042536 INSC,INSC EXON Missense_T431M,Missense_T384M exm892609 11 15257166 [A/G] NM_001031853,NM_001042536 INSC,INSC EXON Missense_N444D,Missense_N397D exm892610 11 15260471 [A/G] NM_001031853,NM_001042536 INSC,INSC EXON Missense_Q462R,Missense_Q415R exm892614 11 15260518 [A/G] NM_001031853,NM_001042536 INSC,INSC EXON Missense_A478T,Missense_A431T exm892615 11 15260593 [A/G] NM_001031853,NM_001042536 INSC,INSC EXON Missense_V503M,Missense_V456M exm892617 11 15261991 [A/G] NM_001031853,NM_001042536 INSC,INSC Silent,Silent exm892621 11 15262049 [A/G] NM_001031853,NM_001042536 INSC,INSC EXON Missense_A531T,Missense_A484T exm892624 11 15267467 [T/C] NM_001031853,NM_001042536 INSC,INSC EXON Missense_R541C,Missense_R494C exm892627 11 15267528 [A/C] NM_001031853,NM_001042536 INSC,INSC EXON Missense_Q561P,Missense_Q514P exm2271467 11 15518925 [T/C] exm-rs7117858 11 15694462 [A/G] exm-rs11023769 11 15921354 [T/C] exm-rs11023787 11 15952294 [T/C] exm2271585 11 15977337 [T/C] exm2267153 11 16007446 [A/G] NM_017508,NM_033326,NM_001145811,NM_001145819 SOX6,SOX6,SOX6,SOX6 Silent,Silent,Silent,Silent exm1702824 11 16071435 [A/G] NM_017508,NM_033326,NM_001145811,NM_001145819 SOX6,SOX6,SOX6,SOX6 EXON Missense_A396V,Missense_A434V,Missense_A393V,Missense_A447V exm892681 11 16133370 [A/G] NM_017508,NM_033326,NM_001145811,NM_001145819 SOX6,SOX6,SOX6,SOX6 EXON Missense_P296S,Missense_P293S,Missense_P293S,Missense_P306S exm2267154 11 16274295 [A/G] NM_017508,NM_033326,NM_001145811,NM_001145819 SOX6,SOX6,SOX6,SOX6 Silent,Silent,Silent,Silent exm892700 11 16362593 [T/C] NM_017508,NM_033326,NM_001145811,NM_001145819 SOX6,SOX6,SOX6,SOX6 EXON Missense_D71N,Missense_D68N,Missense_D68N,Missense_D81N exm-rs297325 11 16389594 [T/C] NM_017508,NM_033326,NM_001145811,NM_001145819 SOX6,SOX6,SOX6,SOX6 Silent,Silent,Silent,Silent exm-rs4756846 11 16403511 [T/C] NM_017508,NM_033326,NM_001145811,NM_001145819 SOX6,SOX6,SOX6,SOX6 Silent,Silent,Silent,Silent exm892729 11 16776454 [A/G] NM_014267 C11orf58 EXON Missense_D119N exm2267155 11 16797867 [A/G] exm892742 11 16810755 [T/C] NM_175058 PLEKHA7 EXON Missense_R1082Q exm892746 11 16810822 [A/G] NM_175058 PLEKHA7 EXON Missense_R1060C exm1703043 11 16811410 [A/G] NM_175058 PLEKHA7 EXON Missense_T1023M exm2249714 11 16812397 [A/G] NM_175058 PLEKHA7 EXON Synonymous_P1000P exm1703055 11 16816159 [T/C] NM_175058 PLEKHA7 EXON Missense_R874Q exm1703056 11 16816195 [A/G] NM_175058 PLEKHA7 EXON Missense_P862L exm892789 11 16822561 [T/G] NM_175058 PLEKHA7 EXON Missense_Q790P exm892792 11 16822604 [T/C] NM_175058 PLEKHA7 EXON Missense_N776D exm892802 11 16824599 [T/C] NM_175058 PLEKHA7 EXON Missense_V693I exm892825 11 16838417 [A/G] NM_175058 PLEKHA7 EXON Missense_P599L exm892828 11 16838460 [A/G] NM_175058 PLEKHA7 EXON Missense_R585W exm892829 11 16838481 [A/G] NM_175058 PLEKHA7 EXON Missense_P578S exm892831 11 16838526 [A/T] NM_175058 PLEKHA7 EXON Missense_S563T exm892850 11 16847718 [T/C] NM_175058 PLEKHA7 EXON Missense_N431S exm892863 11 16847919 [A/G] NM_175058 PLEKHA7 EXON Missense_P364L exm892869 11 16847973 [T/C] NM_175058 PLEKHA7 EXON Missense_R346H exm892875 11 16848067 [A/G] NM_175058 PLEKHA7 EXON Missense_R315W exm892878 11 16848118 [A/G] NM_175058 PLEKHA7 EXON Missense_R298W exm892885 11 16863130 [T/C] NM_175058 PLEKHA7 EXON Missense_Q279R exm892890 11 16863223 [A/G] NM_175058 PLEKHA7 EXON Missense_A248V exm892891 11 16863238 [T/C] NM_175058 PLEKHA7 EXON Missense_Y243C exm892892 11 16863245 [T/G] NM_175058 PLEKHA7 EXON Missense_L241I exm892895 11 16863259 [G/C] NM_175058 PLEKHA7 EXON Missense_T236R exm892898 11 16872784 [G/C] NM_175058 PLEKHA7 EXON Missense_S217C exm892920 11 16877420 [A/G] NM_175058 PLEKHA7 EXON Missense_P116L exm2259736 11 16883854 [T/C] NM_175058 PLEKHA7 Silent exm1703112 11 16892676 [A/G] NM_175058 PLEKHA7 EXON Missense_P92L exm-rs11024074 11 16917219 [T/C] NM_175058 PLEKHA7 Silent exm892930 11 17035678 [A/G] NM_175058 PLEKHA7 EXON Missense_R53C exm892933 11 17035740 [A/C] NM_175058 PLEKHA7 EXON Missense_L32R exm892988 11 17111340 [T/C] NM_002645 PIK3C2A EXON Missense_N1669S exm893002 11 17115817 [T/C] NM_002645 PIK3C2A EXON Missense_K1481R exm893009 11 17118687 [T/C] NM_002645 PIK3C2A EXON Missense_T1415A exm893032 11 17132048 [A/T] NM_002645 PIK3C2A EXON Missense_I1159F exm2218342 11 17132074 [A/G] NM_002645 PIK3C2A EXON Missense_L1150S exm893037 11 17134212 [A/G] NM_002645 PIK3C2A EXON Missense_S1108L exm893046 11 17139205 [T/C] NM_002645 PIK3C2A EXON Missense_A1017T exm1703270 11 17144287 [T/C] NM_002645 PIK3C2A EXON Missense_T825A exm893067 11 17150848 [A/G] NM_002645 PIK3C2A EXON Missense_R800W exm893070 11 17150917 [T/C] NM_002645 PIK3C2A EXON Missense_D777N exm893077 11 17153537 [A/C] NM_002645 PIK3C2A EXON Missense_D719E exm893084 11 17156427 [T/C] NM_002645 PIK3C2A EXON Missense_T683A exm893085 11 17156460 [T/C] NM_002645 PIK3C2A EXON Missense_S672G exm893088 11 17156556 [T/G] NM_002645 PIK3C2A EXON Missense_P640T exm893090 11 17156573 [A/G] NM_002645 PIK3C2A EXON Missense_S634L exm893093 11 17158120 [T/C] NM_002645 PIK3C2A EXON Missense_S586N exm893100 11 17167455 [T/C] NM_002645 PIK3C2A EXON Missense_K532R exm893101 11 17167468 [T/C] NM_002645 PIK3C2A EXON Missense_V528M exm893114 11 17177089 [A/C] NM_002645 PIK3C2A EXON Missense_C385G exm893116 11 17177108 [T/A] NM_002645 PIK3C2A EXON Missense_N378K exm1703350 11 17190279 [T/C] NM_002645 PIK3C2A EXON Missense_Q337R exm893124 11 17190390 [A/G] NM_002645 PIK3C2A EXON Missense_A300V exm893129 11 17190678 [A/G] NM_002645 PIK3C2A EXON Missense_T204I exm893141 11 17190890 [A/C] NM_002645 PIK3C2A EXON Missense_F133L exm893157 11 17191135 [G/C] NM_002645 PIK3C2A EXON Missense_Q52E exm893162 11 17191207 [T/C] NM_002645 PIK3C2A EXON Missense_K28E exm893164 11 17191224 [G/C] NM_002645 PIK3C2A EXON Missense_R22T exm-rs1330 11 17316029 [T/C] NM_005013 NUCB2 Silent exm2275340 11 17317668 [A/T] NM_005013 NUCB2 EXON Nonsense_Y54X exm893177 11 17323361 [A/G] NM_005013 NUCB2 EXON Missense_R108K exm893193 11 17333663 [A/G] NM_005013 NUCB2 Silent exm893195 11 17336926 [T/C] NM_005013 NUCB2 Silent exm893198 11 17337005 [G/C] NM_005013 NUCB2 EXON Missense_E329Q exm893199 11 17351683 [C/G] NM_005013 NUCB2 EXON Missense_Q338E exm893209 11 17352470 [A/G] NM_005013 NUCB2 EXON Missense_K399E exm893218 11 17378308 [A/G] NM_001202439 NCR3LG1 EXON Missense_M61V exm893219 11 17390443 [A/C] NM_001202439 NCR3LG1 EXON Missense_H264N exm893220 11 17393644 [A/G] NM_001202439 NCR3LG1 EXON Missense_H317R exm2271468 11 17405333 [T/C] exm893223 11 17408485 [G/C] NM_000525,NM_001166290 KCNJ11,KCNJ11 EXON Missense_S385C,Missense_S298C exm2249718 11 17408496 [T/C] NM_000525,NM_001166290 KCNJ11,KCNJ11 EXON Synonymous_K381K,Synonymous_K294K exm893236 11 17408605 [A/G] NM_000525,NM_001166290 KCNJ11,KCNJ11 EXON Missense_T345M,Missense_T258M exm893239 11 17408630 [T/C] NM_000525,NM_001166290 KCNJ11,KCNJ11 EXON Missense_V337I,Missense_V250I exm893246 11 17408831 [C/G] NM_000525,NM_001166290 KCNJ11,KCNJ11 EXON Missense_L270V,Missense_L183V exm893254 11 17409055 [T/C] NM_000525,NM_001166290 KCNJ11,KCNJ11 EXON Missense_R195H,Missense_R108H exm893256 11 17409071 [T/C] NM_000525,NM_001166290 KCNJ11,KCNJ11 EXON Missense_A190T,Missense_A103T exm893259 11 17409113 [A/G] NM_000525,NM_001166290 KCNJ11,KCNJ11 EXON Missense_R176C,Missense_R89C exm893274 11 17409572 [T/C] NM_000525,NM_001166290 KCNJ11,KCNJ11 EXON Missense_K23E,Silent exm893275 11 17409602 [T/C] NM_000525,NM_001166290 KCNJ11,KCNJ11 EXON Missense_V13M,Silent exm893282 11 17414570 [T/C] NM_000352 ABCC8 EXON Missense_V1572I exm2218352 11 17415261 [T/G] NM_000352 ABCC8 EXON Missense_T1531P exm893289 11 17415289 [A/C] NM_000352 ABCC8 EXON Missense_K1521N exm893311 11 17418477 [A/C] NM_000352 ABCC8 EXON Missense_A1369S exm2274465 11 17418752 [T/C] NM_000352 ABCC8 EXON Missense_E1326K exm893333 11 17424218 [A/G] NM_000352 ABCC8 EXON Missense_R1214W exm893348 11 17426203 [A/G] NM_000352 ABCC8 EXON Missense_T1138M exm2271587 11 17427363 [T/C] NM_000352 ABCC8 Silent exm893359 11 17428295 [A/G] NM_000352 ABCC8 EXON Missense_T1068M exm893373 11 17428622 [T/C] NM_000352 ABCC8 EXON Missense_R992H exm893397 11 17434994 [T/G] NM_000352 ABCC8 EXON Missense_Q808K exm893400 11 17436060 [A/G] NM_000352 ABCC8 EXON Missense_R797W exm2249720 11 17436865 [A/G] NM_000352 ABCC8 EXON Synonymous_T759T exm893416 11 17448641 [A/G] NM_000352 ABCC8 EXON Missense_A726V exm893417 11 17448642 [T/C] NM_000352 ABCC8 EXON Missense_A726T exm893421 11 17449470 [A/G] NM_000352 ABCC8 EXON Missense_T687M exm893434 11 17450161 [A/G] NM_000352 ABCC8 EXON Missense_A625V exm893435 11 17450177 [A/G] NM_000352 ABCC8 EXON Missense_R620C exm893442 11 17452455 [T/C] NM_000352 ABCC8 EXON Missense_V575M exm2218355 11 17452500 [T/C] NM_000352 ABCC8 EXON Missense_V560M exm893471 11 17464808 [T/C] NM_000352 ABCC8 EXON Missense_I462V exm893474 11 17470143 [A/G] NM_000352 ABCC8 EXON Missense_C418R exm893485 11 17474779 [T/C] NM_000352 ABCC8 EXON Missense_A355T exm893494 11 17482192 [T/C] NM_000352 ABCC8 EXON Missense_R285Q exm893497 11 17483210 [A/G] NM_000352 ABCC8 EXON Nonsense_R248X exm893499 11 17483263 [T/C] NM_000352 ABCC8 EXON Missense_Y230C exm893500 11 17483305 [T/C] NM_000352 ABCC8 EXON Missense_R216H exm893528 11 17498262 [A/T] NM_000352 ABCC8 EXON Missense_V21D exm893532 11 17515883 [A/C] NM_153676,NM_005709 USH1C,USH1C EXON Missense_R899L,Silent exm893543 11 17517160 [T/C] NM_153676,NM_005709 USH1C,USH1C EXON Missense_A871T,Silent exm893548 11 17517205 [T/C] NM_153676,NM_005709 USH1C,USH1C EXON Missense_V856I,Silent exm2274466 11 17517220 [A/C] NM_153676,NM_005709 USH1C,USH1C EXON Missense_S851A,Silent exm893551 11 17518312 [T/C] NM_153676,NM_005709 USH1C,USH1C EXON Missense_D847N,Missense_D547N exm893563 11 17519742 [G/C] NM_153676,NM_005709 USH1C,USH1C EXON Missense_E819D,Missense_E519D exm893566 11 17519780 [T/C] NM_153676,NM_005709 USH1C,USH1C EXON Missense_G807S,Missense_G507S exm2274467 11 17522604 [A/G] NM_153676,NM_005709 USH1C,USH1C EXON Missense_R792W,Missense_R492W exm893573 11 17522631 [A/C] NM_153676,NM_005709 USH1C,USH1C EXON Missense_A783S,Missense_A483S exm893586 11 17523487 [A/G] NM_153676,NM_005709 USH1C,USH1C EXON Missense_M742T,Missense_M442T exm893588 11 17523518 [T/C] NM_153676,NM_005709 USH1C,USH1C EXON Missense_K732E,Missense_K432E exm893594 11 17526211 [A/G] NM_153676,NM_005709 USH1C,USH1C EXON Nonsense_Q723X,Silent exm893608 11 17531010 [A/G] NM_153676,NM_005709 USH1C,USH1C EXON Missense_R636C,Silent exm893610 11 17531057 [A/C] NM_153676,NM_005709 USH1C,USH1C EXON Missense_R620L,Silent exm893614 11 17531093 [C/G] NM_153676,NM_005709 USH1C,USH1C EXON Missense_P608R,Silent exm2249722 11 17531185 [T/C] NM_153676,NM_005709 USH1C,USH1C EXON Synonymous_P577P,Silent exm893626 11 17531325 [A/G] NM_153676,NM_005709 USH1C,USH1C EXON Missense_R531C,Silent exm893627 11 17531369 [A/G] NM_153676,NM_005709 USH1C,USH1C EXON Missense_P516L,Silent exm893630 11 17531995 [A/G] NM_153676,NM_005709 USH1C,USH1C EXON Missense_T496M,Silent exm893634 11 17532052 [T/C] NM_153676,NM_005709 USH1C,USH1C EXON Missense_R477Q,Silent exm893639 11 17533463 [A/G] NM_153676,NM_005709 USH1C,USH1C EXON Missense_R467W,Silent exm893655 11 17538971 [T/C] NM_153676,NM_005709 USH1C,USH1C EXON Silent,Missense_G421S exm893656 11 17538989 [T/C] NM_153676,NM_005709 USH1C,USH1C EXON Silent,Missense_A415T exm893657 11 17539012 [C/G] NM_153676,NM_005709 USH1C,USH1C EXON Silent,Missense_G407A exm893678 11 17544385 [T/C] NM_153676,NM_005709 USH1C,USH1C EXON Missense_R322Q,Missense_R322Q exm893679 11 17544404 [C/G] NM_153676,NM_005709 USH1C,USH1C EXON Missense_E316Q,Missense_E316Q exm893685 11 17544759 [C/G] NM_153676,NM_005709 USH1C,USH1C EXON Missense_A292G,Missense_A292G exm1703645 11 17544992 [T/C] NM_153676,NM_005709 USH1C,USH1C EXON Missense_D265N,Missense_D265N exm893692 11 17544995 [T/C] NM_153676,NM_005709 USH1C,USH1C EXON Missense_V264I,Missense_V264I exm893719 11 17548863 [T/C] NM_153676,NM_005709 USH1C,USH1C EXON Missense_V135I,Missense_V135I exm893722 11 17548878 [T/C] NM_153676,NM_005709 USH1C,USH1C EXON Missense_V130I,Missense_V130I exm893730 11 17552955 [T/C] NM_153676,NM_005709 USH1C,USH1C EXON Missense_R80Q,Missense_R80Q exm893747 11 17554805 [T/C] NM_153676,NM_005709 USH1C,USH1C EXON Missense_H34R,Missense_H34R exm893900 11 17741483 [T/C] NM_002478 MYOD1 EXON Missense_H52Y exm893912 11 17741832 [A/G] NM_002478 MYOD1 EXON Missense_D168G exm893913 11 17741840 [T/C] NM_002478 MYOD1 EXON Missense_P171S exm893920 11 17742453 [A/G] NM_002478 MYOD1 EXON Missense_D212G exm893940 11 17757677 [A/C] NM_004976,NM_001112741 KCNC1,KCNC1 EXON Missense_H43P,Missense_H43P exm893947 11 17793324 [T/G] NM_004976,NM_001112741 KCNC1,KCNC1 EXON Missense_R228L,Missense_R228L exm1703894 11 17809598 [T/C] NM_012139 SERGEF EXON Silent exm893989 11 17809639 [T/C] NM_012139 SERGEF EXON Missense_G457E exm893993 11 17809724 [T/C] NM_012139 SERGEF EXON Missense_K429E exm893995 11 17809762 [T/C] NM_012139 SERGEF EXON Missense_Y416C exm893997 11 17809817 [A/C] NM_012139 SERGEF EXON Missense_A398S exm893999 11 17809879 [A/G] NM_012139 SERGEF EXON Missense_P377L exm2271469 11 18001888 [T/C] NM_012139 SERGEF Silent exm894022 11 18010240 [A/G] NM_012139 SERGEF EXON Missense_F250L exm894029 11 18017406 [A/G] NM_012139 SERGEF EXON Missense_R187W exm894031 11 18017409 [A/G] NM_012139 SERGEF EXON Nonsense_R186X exm894036 11 18026025 [T/C] NM_012139 SERGEF EXON Missense_H137R exm894038 11 18026074 [A/G] NM_012139 SERGEF EXON Nonsense_Q121X exm894042 11 18028176 [T/C] NM_012139 SERGEF EXON Missense_Q105R exm894043 11 18028205 [T/G] NM_012139 SERGEF EXON Nonsense_C95X exm894048 11 18029589 [T/C] NM_012139 SERGEF EXON Missense_H32R exm894057 11 18042597 [A/G] NM_004179 TPH1 EXON Missense_H426Y exm894060 11 18042656 [T/C] NM_004179 TPH1 EXON Missense_R406Q exm894061 11 18042657 [A/G] NM_004179 TPH1 EXON Missense_R406W exm894069 11 18047141 [A/G] NM_004179 TPH1 EXON Missense_A304V exm894070 11 18047154 [T/C] NM_004179 TPH1 EXON Missense_A300T exm894074 11 18047232 [T/G] NM_004179 TPH1 EXON Missense_L274I exm894080 11 18048098 [A/G] NM_004179 TPH1 EXON Nonsense_R248X exm1703978 11 18048170 [A/G] NM_004179 TPH1 EXON Missense_R224C exm894090 11 18050850 [T/C] NM_004179 TPH1 EXON Missense_V177I exm894095 11 18051096 [A/G] NM_004179 TPH1 EXON Nonsense_R145X exm894096 11 18051104 [T/C] NM_004179 TPH1 EXON Missense_R142H exm894097 11 18051105 [A/G] NM_004179 TPH1 EXON Missense_R142C exm1703985 11 18054853 [A/T] NM_004179 TPH1 EXON Missense_M124L exm894107 11 18057575 [A/G] NM_004179 TPH1 EXON Missense_H78Y exm894110 11 18057637 [T/A] NM_004179 TPH1 EXON Missense_N57I exm894119 11 18062302 [T/C] NM_004179 TPH1 EXON Missense_E3G exm894126 11 18102014 [A/G] NM_138421 SAAL1 EXON Missense_R453C exm894129 11 18103014 [T/C] NM_138421 SAAL1 EXON Missense_S426G exm894136 11 18105184 [T/C] NM_138421 SAAL1 EXON Synonymous_E379E exm2249727 11 18105184 [T/C] NM_138421 SAAL1 EXON Synonymous_E379E exm894139 11 18105213 [T/G] NM_138421 SAAL1 EXON Missense_P370T exm894143 11 18105280 [T/C] NM_138421 SAAL1 Silent exm894150 11 18108504 [T/G] NM_138421 SAAL1 EXON Missense_Q317H exm894151 11 18108512 [T/C] NM_138421 SAAL1 EXON Missense_I315V exm2218368 11 18108566 [T/A] NM_138421 SAAL1 EXON Missense_L297I exm894164 11 18111745 [A/G] NM_138421 SAAL1 EXON Missense_F189S exm894167 11 18111784 [T/C] NM_138421 SAAL1 EXON Missense_R176K exm894175 11 18113834 [A/C] NM_138421 SAAL1 EXON Missense_F124C exm894177 11 18118367 [A/G] NM_138421 SAAL1 EXON Missense_P95L exm894179 11 18127464 [T/C] NM_138421 SAAL1 EXON Missense_G42E exm894181 11 18127468 [T/G] NM_138421 SAAL1 EXON Missense_S41R exm894210 11 18158958 [T/C] NM_054031 MRGPRX3 EXON Missense_A70V exm894212 11 18158963 [A/G] NM_054031 MRGPRX3 EXON Missense_D72N exm894215 11 18158993 [T/C] NM_054031 MRGPRX3 EXON Missense_C82R exm894223 11 18159150 [A/G] NM_054031 MRGPRX3 EXON Missense_R134H exm894232 11 18159254 [A/G] NM_054031 MRGPRX3 EXON Missense_N169D exm894233 11 18159288 [T/C] NM_054031 MRGPRX3 EXON Missense_T180I exm894243 11 18159455 [T/C] NM_054031 MRGPRX3 EXON Missense_W236R exm894277 11 18194996 [A/C] NM_054032 MRGPRX4 EXON Missense_I65L exm894282 11 18195041 [A/C] NM_054032 MRGPRX4 EXON Missense_I80L exm894283 11 18195051 [T/C] NM_054032 MRGPRX4 EXON Missense_L83S exm894296 11 18195173 [A/G] NM_054032 MRGPRX4 EXON Missense_V124I exm894304 11 18195252 [T/C] NM_054032 MRGPRX4 EXON Missense_S150F exm894309 11 18195347 [T/G] NM_054032 MRGPRX4 EXON Missense_A182S exm894310 11 18195348 [T/C] NM_054032 MRGPRX4 EXON Missense_A182V exm894311 11 18195363 [A/T] NM_054032 MRGPRX4 EXON Nonsense_L187X exm894321 11 18195537 [A/G] NM_054032 MRGPRX4 EXON Missense_N245S exm894325 11 18195609 [T/C] NM_054032 MRGPRX4 EXON Missense_P269L exm894327 11 18195629 [T/G] NM_054032 MRGPRX4 EXON Missense_G276C exm894356 11 18253084 [A/G] NM_006512,NM_001199744 SAA4,SAA2-SAA4 EXON Missense_R120C,Missense_R198C exm894358 11 18253104 [T/C] NM_006512,NM_001199744 SAA4,SAA2-SAA4 EXON Missense_R113Q,Missense_R191Q exm894361 11 18253137 [A/G] NM_006512,NM_001199744 SAA4,SAA2-SAA4 EXON Missense_S102L,Missense_S180L exm894364 11 18253160 [G/C] NM_006512,NM_001199744 SAA4,SAA2-SAA4 EXON Missense_N94K,Missense_N172K exm894365 11 18253176 [T/C] NM_006512,NM_001199744 SAA4,SAA2-SAA4 EXON Missense_C89Y,Missense_C167Y exm894368 11 18253197 [T/C] NM_006512,NM_001199744 SAA4,SAA2-SAA4 EXON Missense_Y82C,Missense_Y160C exm894369 11 18253209 [T/C] NM_006512,NM_001199744 SAA4,SAA2-SAA4 EXON Missense_R78H,Missense_R156H exm894374 11 18254071 [A/T] NM_006512,NM_001199744 SAA4,SAA2-SAA4 EXON Missense_D34V,Missense_D112V exm894376 11 18257409 [T/C] NM_006512,NM_001199744 SAA4,SAA2-SAA4 EXON Missense_R22H,Missense_R100H exm2249729 11 18267005 [A/G] NM_001199744,NM_001127380,NM_030754 SAA2-SAA4,SAA2,SAA2 EXON Silent,Silent,Synonymous_A96A exm1704068 11 18267021 [A/G] NM_001199744,NM_001127380,NM_030754 SAA2-SAA4,SAA2,SAA2 EXON Silent,Silent,Missense_A91V exm894389 11 18267027 [T/C] NM_001199744,NM_001127380,NM_030754 SAA2-SAA4,SAA2,SAA2 EXON Silent,Silent,Missense_R89H exm894390 11 18267057 [A/G] NM_001199744,NM_001127380,NM_030754 SAA2-SAA4,SAA2,SAA2 EXON Silent,Silent,Missense_A79V exm-rs4638289 11 18285774 [A/T] exm894431 11 18291289 [T/C] NM_001178006,NM_199161,NM_000331 SAA1,SAA1,SAA1 EXON Missense_F86L,Missense_F86L,Missense_F86L exm894432 11 18291292 [T/A] NM_001178006,NM_199161,NM_000331 SAA1,SAA1,SAA1 EXON Missense_F87I,Missense_F87I,Missense_F87I exm894433 11 18291293 [T/C] NM_001178006,NM_199161,NM_000331 SAA1,SAA1,SAA1 EXON Missense_F87S,Missense_F87S,Missense_F87S exm894435 11 18291302 [A/G] NM_001178006,NM_199161,NM_000331 SAA1,SAA1,SAA1 EXON Missense_G90D,Missense_G90D,Missense_G90D exm894438 11 18291320 [T/C] NM_001178006,NM_199161,NM_000331 SAA1,SAA1,SAA1 EXON Missense_A96V,Missense_A96V,Missense_A96V exm894440 11 18291348 [T/G] NM_001178006,NM_199161,NM_000331 SAA1,SAA1,SAA1 EXON Missense_R105S,Missense_R105S,Missense_R105S exm894442 11 18291373 [T/C] NM_001178006,NM_199161,NM_000331 SAA1,SAA1,SAA1 EXON Nonsense_R114X,Nonsense_R114X,Nonsense_R114X exm894449 11 18303533 [A/G] NM_007216,NM_181508,NM_181507 HPS5,HPS5,HPS5 EXON Missense_T984I,Missense_T984I,Missense_T1098I exm894450 11 18303597 [A/G] NM_007216,NM_181508,NM_181507 HPS5,HPS5,HPS5 EXON Missense_R963W,Missense_R963W,Missense_R1077W exm894452 11 18303609 [T/C] NM_007216,NM_181508,NM_181507 HPS5,HPS5,HPS5 EXON Missense_M959V,Missense_M959V,Missense_M1073V exm1704091 11 18303729 [A/G] NM_007216,NM_181508,NM_181507 HPS5,HPS5,HPS5 EXON Missense_L919F,Missense_L919F,Missense_L1033F exm894460 11 18305354 [T/C] NM_007216,NM_181508,NM_181507 HPS5,HPS5,HPS5 EXON Missense_E902K,Missense_E902K,Missense_E1016K exm894461 11 18305355 [T/C] NM_007216,NM_181508,NM_181507 HPS5,HPS5,HPS5 EXON Missense_M901I,Missense_M901I,Missense_M1015I exm894462 11 18305359 [A/T] NM_007216,NM_181508,NM_181507 HPS5,HPS5,HPS5 EXON Missense_L900Q,Missense_L900Q,Missense_L1014Q exm894467 11 18306978 [A/G] NM_007216,NM_181508,NM_181507 HPS5,HPS5,HPS5 EXON Missense_Y842H,Missense_Y842H,Missense_Y956H exm894475 11 18309440 [T/C] NM_007216,NM_181508,NM_181507 HPS5,HPS5,HPS5 EXON Missense_R740Q,Missense_R740Q,Missense_R854Q exm894477 11 18309464 [A/G] NM_007216,NM_181508,NM_181507 HPS5,HPS5,HPS5 EXON Missense_P732L,Missense_P732L,Missense_P846L exm894480 11 18309480 [A/C] NM_007216,NM_181508,NM_181507 HPS5,HPS5,HPS5 EXON Missense_V727F,Missense_V727F,Missense_V841F exm894487 11 18312991 [T/C] NM_007216,NM_181508,NM_181507 HPS5,HPS5,HPS5 EXON Missense_K699R,Missense_K699R,Missense_K813R exm894488 11 18313027 [T/C] NM_007216,NM_181508,NM_181507 HPS5,HPS5,HPS5 EXON Missense_S687N,Missense_S687N,Missense_S801N exm894490 11 18313060 [A/G] NM_007216,NM_181508,NM_181507 HPS5,HPS5,HPS5 EXON Missense_A676V,Missense_A676V,Missense_A790V exm894497 11 18313247 [T/C] NM_007216,NM_181508,NM_181507 HPS5,HPS5,HPS5 EXON Missense_A614T,Missense_A614T,Missense_A728T exm894499 11 18313293 [T/A] NM_007216,NM_181508,NM_181507 HPS5,HPS5,HPS5 EXON Missense_S598R,Missense_S598R,Missense_S712R exm1704116 11 18313529 [T/C] NM_007216,NM_181508,NM_181507 HPS5,HPS5,HPS5 EXON Missense_E520K,Missense_E520K,Missense_E634K exm894512 11 18314503 [T/C] NM_007216,NM_181508,NM_181507 HPS5,HPS5,HPS5 EXON Missense_S488N,Missense_S488N,Missense_S602N exm894513 11 18314522 [T/C] NM_007216,NM_181508,NM_181507 HPS5,HPS5,HPS5 EXON Missense_E482K,Missense_E482K,Missense_E596K exm894515 11 18316582 [T/G] NM_007216,NM_181508,NM_181507 HPS5,HPS5,HPS5 EXON Missense_K476T,Missense_K476T,Missense_K590T exm894523 11 18317571 [A/C] NM_007216,NM_181508,NM_181507 HPS5,HPS5,HPS5 EXON Missense_V423L,Missense_V423L,Missense_V537L exm1704124 11 18317644 [T/C] NM_007216,NM_181508,NM_181507 HPS5,HPS5,HPS5 EXON Missense_M398I,Missense_M398I,Missense_M512I exm894532 11 18318354 [T/C] NM_007216,NM_181508,NM_181507 HPS5,HPS5,HPS5 EXON Missense_G387R,Missense_G387R,Missense_G501R exm1704128 11 18318444 [A/G] NM_007216,NM_181508,NM_181507 HPS5,HPS5,HPS5 EXON Missense_H357Y,Missense_H357Y,Missense_H471Y exm894539 11 18319180 [T/G] NM_007216,NM_181508,NM_181507 HPS5,HPS5,HPS5 EXON Missense_L303M,Missense_L303M,Missense_L417M exm894541 11 18319211 [G/C] NM_007216,NM_181508,NM_181507 HPS5,HPS5,HPS5 EXON Missense_D292E,Missense_D292E,Missense_D406E exm894549 11 18320428 [A/G] NM_007216,NM_181508,NM_181507 HPS5,HPS5,HPS5 EXON Missense_R245C,Missense_R245C,Missense_R359C exm894551 11 18320483 [A/C] NM_007216,NM_181508,NM_181507 HPS5,HPS5,HPS5 EXON Missense_L226F,Missense_L226F,Missense_L340F exm894552 11 18320491 [T/G] NM_007216,NM_181508,NM_181507 HPS5,HPS5,HPS5 EXON Missense_N224H,Missense_N224H,Missense_N338H exm-rs4353250 11 18323517 [T/C] NM_007216,NM_181508,NM_181507 HPS5,HPS5,HPS5 Silent,Silent,Silent exm894560 11 18327000 [A/T] NM_007216,NM_181508,NM_181507 HPS5,HPS5,HPS5 EXON Missense_S175T,Missense_S175T,Missense_S289T exm894565 11 18327788 [A/G] NM_007216,NM_181508,NM_181507 HPS5,HPS5,HPS5 EXON Missense_R126C,Missense_R126C,Missense_R240C exm894577 11 18332420 [T/C] NM_007216,NM_181508,NM_181507 HPS5,HPS5,HPS5 EXON Missense_M1I,Missense_M1I,Missense_M115I exm894578 11 18332440 [A/G] NM_007216,NM_181508,NM_181507 HPS5,HPS5,HPS5 EXON Silent,Silent,Missense_R109C exm894583 11 18332977 [T/C] NM_007216,NM_181508,NM_181507 HPS5,HPS5,HPS5 EXON Silent,Silent,Missense_A81T exm894606 11 18357384 [A/T] NM_001142307,NM_005316 GTF2H1,GTF2H1 EXON Missense_S80T,Missense_S80T exm894614 11 18359742 [A/G] NM_001142307,NM_005316 GTF2H1,GTF2H1 EXON Missense_N145S,Missense_N145S exm894615 11 18359784 [A/G] NM_001142307,NM_005316 GTF2H1,GTF2H1 EXON Missense_N159S,Missense_N159S exm894637 11 18373503 [A/G] NM_001142307,NM_005316 GTF2H1,GTF2H1 EXON Missense_K377E,Missense_K377E exm894646 11 18380087 [T/A] NM_001142307,NM_005316 GTF2H1,GTF2H1 EXON Missense_D456V,Missense_D456V exm894654 11 18387342 [A/G] NM_001142307,NM_005316 GTF2H1,GTF2H1 EXON Missense_I525V,Missense_I525V exm2218377 11 18387354 [T/C] NM_001142307,NM_005316 GTF2H1,GTF2H1 EXON Missense_L529F,Missense_L529F exm894656 11 18387397 [A/G] NM_001142307,NM_005316 GTF2H1,GTF2H1 EXON Missense_R543H,Missense_R543H exm894661 11 18418397 [T/C] NM_005566,NM_001165415,NR_028500,NM_001135239,NM_001165416,NM_001165414 LDHA,LDHA,LDHA,LDHA,LDHA,LDHA EXON Missense_T3I,Missense_T3I,Silent,Missense_T3I,Missense_T3I,Missense_T32I exm-rs2896526 11 18419806 [A/G] NM_005566,NM_001165415,NR_028500,NM_001135239,NM_001165416,NM_001165414 LDHA,LDHA,LDHA,LDHA,LDHA,LDHA Silent,Silent,Silent,Silent,Silent,Silent exm894675 11 18421068 [A/G] NM_005566,NM_001165415,NR_028500,NM_001135239,NM_001165416,NM_001165414 LDHA,LDHA,LDHA,LDHA,LDHA,LDHA EXON Missense_R73G,Missense_R73G,Silent,Missense_R73G,Missense_R73G,Missense_R102G exm2218378 11 18422545 [A/G] NM_005566,NM_001165415,NR_028500,NM_001135239,NM_001165416,NM_001165414 LDHA,LDHA,LDHA,LDHA,LDHA,LDHA EXON Missense_V136I,Missense_V136I,Silent,Silent,Missense_V136I,Missense_V165I exm894685 11 18424407 [T/G] NM_005566,NM_001165415,NR_028500,NM_001135239,NM_001165416,NM_001165414 LDHA,LDHA,LDHA,LDHA,LDHA,LDHA EXON Missense_A147S,Missense_A147S,Silent,Missense_A89S,Missense_A147S,Missense_A176S exm894698 11 18425256 [G/C] NM_005566,NM_001165415,NR_028500,NM_001135239,NM_001165416,NM_001165414 LDHA,LDHA,LDHA,LDHA,LDHA,LDHA EXON Missense_G203A,Missense_G203A,Silent,Missense_G145A,Missense_G203A,Missense_G232A exm894699 11 18425344 [C/G] NM_005566,NM_001165415,NR_028500,NM_001135239,NM_001165416,NM_001165414 LDHA,LDHA,LDHA,LDHA,LDHA,LDHA EXON Missense_K232N,Silent,Silent,Missense_K174N,Missense_K232N,Missense_K261N exm894712 11 18434301 [A/C] NM_002301,NM_017448 LDHC,LDHC EXON Missense_I13L,Missense_I13L exm2249731 11 18451372 [A/G] NM_002301,NM_017448 LDHC,LDHC EXON Synonymous_Q111Q,Synonymous_Q111Q exm894725 11 18451372 [A/G] NM_002301,NM_017448 LDHC,LDHC EXON Synonymous_Q111Q,Synonymous_Q111Q exm894739 11 18460083 [T/C] NM_002301,NM_017448 LDHC,LDHC EXON Missense_W201R,Missense_W201R exm894745 11 18460151 [T/G] NM_002301,NM_017448 LDHC,LDHC EXON Missense_D223E,Missense_D223E exm894753 11 18472528 [C/G] NM_002301,NM_017448 LDHC,LDHC EXON Missense_E285Q,Missense_E285Q exm894757 11 18472663 [A/C] NM_002301,NM_017448 LDHC,LDHC EXON Missense_L330I,Missense_L330I exm894761 11 18478321 [A/G] NM_001144071,NM_144972 LDHAL6A,LDHAL6A EXON Missense_G32S,Missense_G32S exm894770 11 18487231 [A/G] NM_001144071,NM_144972 LDHAL6A,LDHAL6A EXON Missense_A98T,Missense_A98T exm894774 11 18487274 [T/G] NM_001144071,NM_144972 LDHAL6A,LDHAL6A EXON Missense_R112L,Missense_R112L exm894780 11 18497063 [T/C] NM_001144071,NM_144972 LDHAL6A,LDHAL6A EXON Missense_R157C,Missense_R157C exm894782 11 18497078 [T/G] NM_001144071,NM_144972 LDHAL6A,LDHAL6A EXON Missense_G162C,Missense_G162C exm894784 11 18497106 [A/G] NM_001144071,NM_144972 LDHAL6A,LDHAL6A EXON Missense_R171H,Missense_R171H exm2218382 11 18497177 [T/G] NM_001144071,NM_144972 LDHAL6A,LDHAL6A EXON Missense_D195Y,Missense_D195Y exm894787 11 18497187 [A/G] NM_001144071,NM_144972 LDHAL6A,LDHAL6A Silent,Silent exm1704298 11 18497991 [T/C] NM_001144071,NM_144972 LDHAL6A,LDHAL6A EXON Missense_I218T,Missense_I218T exm1704299 11 18498006 [A/G] NM_001144071,NM_144972 LDHAL6A,LDHAL6A EXON Missense_D223G,Missense_D223G exm894815 11 18505477 [T/G] NM_006292 TSG101 EXON Missense_E261D exm1704368 11 18536225 [A/G] NM_006292 TSG101 EXON Synonymous_H119H exm894850 11 18536353 [T/G] NM_006292 TSG101 EXON Missense_L77M exm894852 11 18541113 [T/C] NM_006292 TSG101 EXON Missense_N27S exm1704404 11 18553921 [T/A] NM_001261385,NM_001261383,NM_001040697,NM_001261382,NM_001261386,NM_001261384,NM_018314 UEVLD,UEVLD,UEVLD,UEVLD,UEVLD,UEVLD,UEVLD EXON Silent,Silent,Missense_K454N,Missense_K432N,Silent,Missense_K324N,Silent exm894857 11 18553958 [A/G] NM_001261385,NM_001261383,NM_001040697,NM_001261382,NM_001261386,NM_001261384,NM_018314 UEVLD,UEVLD,UEVLD,UEVLD,UEVLD,UEVLD,UEVLD EXON Silent,Silent,Missense_I442T,Missense_I420T,Silent,Missense_I312T,Silent exm894862 11 18555876 [T/C] NM_001261385,NM_001261383,NM_001040697,NM_001261382,NM_001261386,NM_001261384,NM_018314 UEVLD,UEVLD,UEVLD,UEVLD,UEVLD,UEVLD,UEVLD Silent,Silent,Silent,Silent,Silent,Silent,Silent exm894865 11 18555936 [T/C] NM_001261385,NM_001261383,NM_001040697,NM_001261382,NM_001261386,NM_001261384,NM_018314 UEVLD,UEVLD,UEVLD,UEVLD,UEVLD,UEVLD,UEVLD EXON Silent,Silent,Missense_M397V,Missense_M375V,Silent,Missense_M267V,Silent exm894875 11 18566188 [T/C] NM_001261385,NM_001261383,NM_001040697,NM_001261382,NM_001261386,NM_001261384,NM_018314 UEVLD,UEVLD,UEVLD,UEVLD,UEVLD,UEVLD,UEVLD EXON Missense_E310K,Missense_E326K,Missense_E348K,Missense_E326K,Missense_E191K,Missense_E218K,Missense_E348K exm1704430 11 18566200 [A/C] NM_001261385,NM_001261383,NM_001040697,NM_001261382,NM_001261386,NM_001261384,NM_018314 UEVLD,UEVLD,UEVLD,UEVLD,UEVLD,UEVLD,UEVLD EXON Missense_W306G,Missense_W322G,Missense_W344G,Missense_W322G,Missense_W187G,Missense_W214G,Missense_W344G exm894878 11 18566292 [T/C] NM_001261385,NM_001261383,NM_001040697,NM_001261382,NM_001261386,NM_001261384,NM_018314 UEVLD,UEVLD,UEVLD,UEVLD,UEVLD,UEVLD,UEVLD EXON Missense_R275Q,Missense_R291Q,Missense_R313Q,Missense_R291Q,Missense_R156Q,Missense_R183Q,Missense_R313Q exm894882 11 18568442 [T/C] NM_001261385,NM_001261383,NM_001040697,NM_001261382,NM_001261386,NM_001261384,NM_018314 UEVLD,UEVLD,UEVLD,UEVLD,UEVLD,UEVLD,UEVLD EXON Missense_V253I,Missense_V269I,Missense_V291I,Missense_V269I,Silent,Missense_V161I,Missense_V291I exm894885 11 18568542 [A/T] NM_001261385,NM_001261383,NM_001040697,NM_001261382,NM_001261386,NM_001261384,NM_018314 UEVLD,UEVLD,UEVLD,UEVLD,UEVLD,UEVLD,UEVLD EXON Synonymous_G219G,Synonymous_G235G,Synonymous_G257G,Synonymous_G235G,Silent,Synonymous_G127G,Synonymous_G257G exm2249736 11 18568542 [A/T] NM_001261385,NM_001261383,NM_001040697,NM_001261382,NM_001261386,NM_001261384,NM_018314 UEVLD,UEVLD,UEVLD,UEVLD,UEVLD,UEVLD,UEVLD EXON Synonymous_G219G,Synonymous_G235G,Synonymous_G257G,Synonymous_G235G,Silent,Synonymous_G127G,Synonymous_G257G exm894889 11 18579790 [T/C] NM_001261385,NM_001261383,NM_001040697,NM_001261382,NM_001261386,NM_001261384,NM_018314 UEVLD,UEVLD,UEVLD,UEVLD,UEVLD,UEVLD,UEVLD EXON Missense_V196M,Missense_V212M,Missense_V234M,Missense_V212M,Missense_V134M,Missense_V104M,Missense_V234M exm2271470 11 18586122 [T/C] NM_001261385,NM_001261383,NM_001040697,NM_001261382,NM_001261386,NM_001261384,NM_018314 UEVLD,UEVLD,UEVLD,UEVLD,UEVLD,UEVLD,UEVLD Silent,Silent,Silent,Silent,Silent,Silent,Silent exm894897 11 18587894 [T/C] NM_001261385,NM_001261383,NM_001040697,NM_001261382,NM_001261386,NM_001261384,NM_018314 UEVLD,UEVLD,UEVLD,UEVLD,UEVLD,UEVLD,UEVLD EXON Missense_G127S,Missense_G143S,Missense_G165S,Missense_G143S,Silent,Missense_G35S,Missense_G165S exm894899 11 18587910 [A/C] NM_001261385,NM_001261383,NM_001040697,NM_001261382,NM_001261386,NM_001261384,NM_018314 UEVLD,UEVLD,UEVLD,UEVLD,UEVLD,UEVLD,UEVLD EXON Missense_I121M,Missense_I137M,Missense_I159M,Missense_I137M,Silent,Missense_I29M,Missense_I159M exm894903 11 18587966 [T/G] NM_001261385,NM_001261383,NM_001040697,NM_001261382,NM_001261386,NM_001261384,NM_018314 UEVLD,UEVLD,UEVLD,UEVLD,UEVLD,UEVLD,UEVLD EXON Missense_M103L,Missense_M119L,Missense_M141L,Missense_M119L,Silent,Missense_M11L,Missense_M141L exm894909 11 18591871 [T/C] NM_001261385,NM_001261383,NM_001040697,NM_001261382,NM_001261386,NM_001261384,NM_018314 UEVLD,UEVLD,UEVLD,UEVLD,UEVLD,UEVLD,UEVLD EXON Missense_A45T,Missense_A61T,Missense_A83T,Missense_A61T,Silent,Silent,Missense_A83T exm894917 11 18600283 [T/C] NM_001261385,NM_001261383,NM_001040697,NM_001261382,NM_001261386,NM_001261384,NM_018314 UEVLD,UEVLD,UEVLD,UEVLD,UEVLD,UEVLD,UEVLD EXON Missense_M1V,Missense_M39V,Missense_M39V,Missense_M39V,Missense_M39V,Silent,Missense_M39V exm2273475 11 18631405 [T/C] NR_038360,NM_194285 SPTY2D1-AS1,SPTY2D1 EXON Silent,Silent exm894930 11 18631427 [T/C] NR_038360,NM_194285 SPTY2D1-AS1,SPTY2D1 EXON Silent,Missense_K680R exm-rs10128711 11 18632984 [T/C] NM_194285 SPTY2D1 Silent exm894937 11 18633897 [T/C] NM_194285 SPTY2D1 EXON Missense_K617R exm894947 11 18636335 [T/C] NM_194285 SPTY2D1 EXON Missense_I496V exm894957 11 18636422 [A/G] NM_194285 SPTY2D1 EXON Missense_R467W exm894958 11 18636425 [G/C] NM_194285 SPTY2D1 EXON Missense_G466R exm894962 11 18636481 [T/C] NM_194285 SPTY2D1 EXON Missense_R447Q exm894964 11 18636517 [C/G] NM_194285 SPTY2D1 EXON Missense_P435R exm894967 11 18636587 [T/C] NM_194285 SPTY2D1 EXON Missense_I412V exm894971 11 18636626 [A/G] NM_194285 SPTY2D1 EXON Missense_R399C exm894975 11 18636851 [T/C] NM_194285 SPTY2D1 EXON Missense_V324I exm894980 11 18636919 [T/C] NM_194285 SPTY2D1 EXON Missense_R301H exm894981 11 18636920 [A/G] NM_194285 SPTY2D1 EXON Missense_R301C exm894986 11 18637009 [T/C] NM_194285 SPTY2D1 EXON Missense_N271S exm894989 11 18637063 [A/G] NM_194285 SPTY2D1 EXON Missense_S253F exm894991 11 18637177 [T/C] NM_194285 SPTY2D1 EXON Missense_K215R exm895003 11 18637520 [T/C] NM_194285 SPTY2D1 EXON Missense_I101V exm2264444 11 18645843 [A/C] NM_194285 SPTY2D1 Silent exm895037 11 18723210 [T/C] NM_153347 TMEM86A EXON Missense_A126V exm895048 11 18723477 [T/C] NM_153347 TMEM86A EXON Missense_V215A exm895052 11 18726022 [A/G] NM_153347,NM_173588 TMEM86A,IGSF22 EXON Silent,Missense_L1325P exm895054 11 18727448 [T/C] NM_173588 IGSF22 EXON Missense_T1276A exm895058 11 18728650 [T/C] NM_173588 IGSF22 EXON Missense_I1131V exm895063 11 18729488 [T/C] NM_173588 IGSF22 EXON Missense_R1048Q exm895065 11 18729525 [A/C] NM_173588 IGSF22 EXON Missense_V1036L exm895074 11 18731005 [T/C] NM_173588 IGSF22 EXON Missense_R976Q exm895078 11 18731161 [T/C] NM_173588 IGSF22 EXON Missense_R924Q exm895079 11 18731162 [A/G] NM_173588 IGSF22 EXON Missense_R924W exm895114 11 18735426 [T/C] NM_173588 IGSF22 EXON Missense_T690A exm895119 11 18735465 [A/G] NM_173588 IGSF22 EXON Missense_L677F exm895122 11 18735480 [A/G] NM_173588 IGSF22 EXON Missense_R672C exm895123 11 18735519 [T/C] NM_173588 IGSF22 EXON Missense_G659R exm895127 11 18735537 [A/G] NM_173588 IGSF22 EXON Missense_R653C exm895134 11 18735597 [T/C] NM_173588 IGSF22 EXON Missense_G633R exm895135 11 18735600 [A/G] NM_173588 IGSF22 EXON Missense_R632W exm895136 11 18735605 [A/G] NM_173588 IGSF22 EXON Missense_P630L exm895140 11 18735677 [A/G] NM_173588 IGSF22 EXON Missense_P606L exm895150 11 18735934 [T/G] NM_173588 IGSF22 EXON Missense_K563T exm895152 11 18735947 [T/C] NM_173588 IGSF22 EXON Missense_M559V exm895165 11 18737002 [A/C] NM_173588 IGSF22 EXON Missense_S503I exm895178 11 18737228 [T/C] NM_173588 IGSF22 EXON Missense_V428I exm895180 11 18738281 [T/C] NM_173588 IGSF22 EXON Missense_V414I exm895182 11 18738329 [T/C] NM_173588 IGSF22 EXON Missense_E398K exm895185 11 18738373 [A/G] NM_173588 IGSF22 EXON Missense_T383M exm895189 11 18738496 [T/C] NM_173588 IGSF22 EXON Missense_R342H exm895194 11 18739502 [T/G] NM_173588 IGSF22 EXON Missense_M317L exm895195 11 18739504 [T/C] NM_173588 IGSF22 EXON Missense_R316Q exm895198 11 18739517 [T/C] NM_173588 IGSF22 EXON Missense_V312M exm895206 11 18740228 [T/G] NM_173588 IGSF22 EXON Missense_D248E exm895207 11 18740268 [T/C] NM_173588 IGSF22 EXON Missense_R235Q exm895208 11 18740269 [A/G] NM_173588 IGSF22 EXON Missense_R235W exm895214 11 18741319 [T/C] NM_173588 IGSF22 EXON Missense_D214N exm895216 11 18741379 [T/C] NM_173588 IGSF22 EXON Missense_I194V exm895220 11 18741652 [T/A] NM_173588 IGSF22 Silent exm895225 11 18741822 [A/C] NM_173588 IGSF22 EXON Missense_L130R exm895226 11 18741831 [A/C] NM_173588 IGSF22 EXON Missense_L127R exm895238 11 18743511 [T/C] NM_173588 IGSF22 EXON Missense_G63S exm895239 11 18743529 [T/C] NM_173588 IGSF22 EXON Missense_S57G exm895241 11 18745681 [T/C] NM_173588 IGSF22 EXON Missense_V35M exm895243 11 18745705 [T/C] NM_173588 IGSF22 EXON Missense_T27A exm895244 11 18745712 [T/G] NM_173588 IGSF22 EXON Missense_H24Q exm2218396 11 18750497 [T/C] NM_001039970,NM_032781,NM_006906 PTPN5,PTPN5,PTPN5 EXON Missense_H529R,Missense_H561R,Missense_H561R exm895257 11 18751054 [T/C] NM_001039970,NM_032781,NM_006906 PTPN5,PTPN5,PTPN5 EXON Missense_R485Q,Missense_R517Q,Missense_R517Q exm895263 11 18751085 [T/G] NM_001039970,NM_032781,NM_006906 PTPN5,PTPN5,PTPN5 EXON Missense_I475L,Missense_I507L,Missense_I507L exm895276 11 18754240 [T/C] NM_001039970,NM_032781,NM_006906 PTPN5,PTPN5,PTPN5 EXON Missense_E378K,Missense_E410K,Missense_E410K exm895277 11 18754784 [T/C] NM_001039970,NM_032781,NM_006906 PTPN5,PTPN5,PTPN5 EXON Missense_E374K,Missense_E406K,Missense_E406K exm895279 11 18754804 [T/G] NM_001039970,NM_032781,NM_006906 PTPN5,PTPN5,PTPN5 EXON Missense_T367N,Missense_T399N,Missense_T399N exm895288 11 18754870 [A/G] NM_001039970,NM_032781,NM_006906 PTPN5,PTPN5,PTPN5 EXON Missense_V345A,Missense_V377A,Missense_V377A exm895301 11 18762217 [T/C] NM_001039970,NM_032781,NM_006906 PTPN5,PTPN5,PTPN5 EXON Missense_R251H,Missense_R283H,Missense_R283H exm895302 11 18762241 [T/C] NM_001039970,NM_032781,NM_006906 PTPN5,PTPN5,PTPN5 EXON Missense_R243H,Missense_R275H,Missense_R275H exm895303 11 18762245 [T/C] NM_001039970,NM_032781,NM_006906 PTPN5,PTPN5,PTPN5 EXON Missense_A242T,Missense_A274T,Missense_A274T exm895307 11 18763848 [A/G] NM_001039970,NM_032781,NM_006906 PTPN5,PTPN5,PTPN5 EXON Missense_P197L,Missense_P229L,Missense_P229L exm895311 11 18763895 [C/G] NM_001039970,NM_032781,NM_006906 PTPN5,PTPN5,PTPN5 EXON Missense_E181D,Missense_E213D,Missense_E213D exm895327 11 18764603 [A/G] NM_001039970,NM_032781,NM_006906 PTPN5,PTPN5,PTPN5 EXON Missense_T108M,Missense_T140M,Missense_T140M exm895329 11 18764870 [A/G] NM_001039970,NM_032781,NM_006906 PTPN5,PTPN5,PTPN5 EXON Missense_T101M,Missense_T133M,Missense_T133M exm895331 11 18764910 [T/C] NM_001039970,NM_032781,NM_006906 PTPN5,PTPN5,PTPN5 EXON Silent,Missense_V120I,Missense_V120I exm895332 11 18764915 [T/C] NM_001039970,NM_032781,NM_006906 PTPN5,PTPN5,PTPN5 EXON Silent,Missense_N118S,Missense_N118S exm895338 11 18765648 [A/G] NM_001039970,NM_032781,NM_006906 PTPN5,PTPN5,PTPN5 EXON Missense_S66P,Missense_S66P,Missense_S66P exm895349 11 18787394 [G/C] NM_001039970,NM_032781,NM_006906 PTPN5,PTPN5,PTPN5 EXON Missense_E19D,Missense_E19D,Missense_E19D exm895352 11 18787432 [A/T] NM_001039970,NM_032781,NM_006906 PTPN5,PTPN5,PTPN5 Silent,Silent,Silent exm895361 11 18955413 [A/G] NM_147199 MRGPRX1 EXON Nonsense_Q307X exm895370 11 18955550 [T/G] NM_147199 MRGPRX1 EXON Missense_S261Y exm2267156 11 19057767 [A/G] exm895420 11 19076980 [T/C] NM_054030 MRGPRX2 EXON Missense_M324V exm895424 11 19077011 [A/C] NM_054030 MRGPRX2 EXON Missense_S313R exm895429 11 19077175 [A/G] NM_054030 MRGPRX2 EXON Missense_H259Y exm895431 11 19077223 [A/G] NM_054030 MRGPRX2 EXON Missense_W243R exm895432 11 19077238 [G/C] NM_054030 MRGPRX2 EXON Missense_P238A exm895439 11 19077366 [A/C] NM_054030 MRGPRX2 EXON Missense_F195C exm895448 11 19077627 [A/G] NM_054030 MRGPRX2 EXON Missense_V108A exm895460 11 19077765 [T/C] NM_054030 MRGPRX2 EXON Missense_N62S exm895463 11 19077786 [A/G] NM_054030 MRGPRX2 EXON Missense_L55P exm895467 11 19077823 [T/C] NM_054030 MRGPRX2 EXON Missense_V43I exm895473 11 19077904 [T/G] NM_054030 MRGPRX2 EXON Missense_N16H exm1704823 11 19164670 [A/G] NM_019028,NM_001001483 ZDHHC13,ZDHHC13 EXON Missense_Q58R,Silent exm895483 11 19167805 [T/C] NM_019028,NM_001001483 ZDHHC13,ZDHHC13 EXON Missense_S84L,Silent exm895486 11 19167850 [A/G] NM_019028,NM_001001483 ZDHHC13,ZDHHC13 EXON Missense_K99R,Silent exm895492 11 19172300 [A/G] NM_019028,NM_001001483 ZDHHC13,ZDHHC13 EXON Synonymous_G182G,Synonymous_G52G exm2249740 11 19172300 [A/G] NM_019028,NM_001001483 ZDHHC13,ZDHHC13 EXON Synonymous_G182G,Synonymous_G52G exm895495 11 19173749 [A/G] NM_019028,NM_001001483 ZDHHC13,ZDHHC13 EXON Missense_N210S,Missense_N80S exm2218400 11 19174130 [G/C] NM_019028,NM_001001483 ZDHHC13,ZDHHC13 EXON Missense_L258V,Missense_L128V exm895502 11 19177362 [T/C] NM_019028,NM_001001483 ZDHHC13,ZDHHC13 EXON Missense_L298P,Missense_L168P exm895503 11 19177386 [T/C] NM_019028,NM_001001483 ZDHHC13,ZDHHC13 EXON Missense_I306T,Missense_I176T exm895507 11 19180530 [T/C] NM_019028,NM_001001483 ZDHHC13,ZDHHC13 EXON Missense_F351L,Missense_F221L exm895510 11 19184859 [A/G] NM_019028,NM_001001483 ZDHHC13,ZDHHC13 EXON Missense_G373E,Missense_G243E exm895511 11 19184916 [A/G] NM_019028,NM_001001483 ZDHHC13,ZDHHC13 EXON Missense_Y392C,Missense_Y262C exm895514 11 19184936 [C/G] NM_019028,NM_001001483 ZDHHC13,ZDHHC13 EXON Missense_P399A,Missense_P269A exm895515 11 19184951 [A/G] NM_019028,NM_001001483 ZDHHC13,ZDHHC13 EXON Missense_A404T,Missense_A274T exm2218401 11 19186663 [A/C] NM_019028,NM_001001483 ZDHHC13,ZDHHC13 EXON Missense_Q454P,Missense_Q324P exm895520 11 19186683 [T/C] NM_019028,NM_001001483 ZDHHC13,ZDHHC13 EXON Missense_R461W,Missense_R331W exm895522 11 19187872 [A/C] NM_019028,NM_001001483 ZDHHC13,ZDHHC13 EXON Missense_I472L,Missense_I342L exm895533 11 19197465 [A/G] NM_019028,NM_001001483 ZDHHC13,ZDHHC13 EXON Missense_M609I,Missense_M479I exm895542 11 19204263 [T/C] NM_003476 CSRP3 EXON Missense_G180D exm895555 11 19207878 [T/C] NM_003476 CSRP3 EXON Missense_R100H exm895556 11 19207879 [A/G] NM_003476 CSRP3 EXON Missense_R100C exm895580 11 19213980 [T/C] NM_003476 CSRP3 EXON Missense_G6R exm895582 11 19213986 [A/G] NM_003476 CSRP3 EXON Missense_W4R exm895586 11 19246275 [T/C] NM_001256371,NM_001256372,NM_024680 E2F8,E2F8,E2F8 EXON Missense_N845S,Missense_N845S,Missense_N845S exm895591 11 19246835 [T/G] NM_001256371,NM_001256372,NM_024680 E2F8,E2F8,E2F8 EXON Missense_Y785S,Missense_Y785S,Missense_Y785S exm895603 11 19247000 [G/C] NM_001256371,NM_001256372,NM_024680 E2F8,E2F8,E2F8 EXON Missense_S730T,Missense_S730T,Missense_S730T exm895608 11 19247285 [T/C] NM_001256371,NM_001256372,NM_024680 E2F8,E2F8,E2F8 EXON Missense_I674V,Missense_I674V,Missense_I674V exm895609 11 19247287 [C/G] NM_001256371,NM_001256372,NM_024680 E2F8,E2F8,E2F8 EXON Missense_P673R,Missense_P673R,Missense_P673R exm895635 11 19251491 [C/G] NM_001256371,NM_001256372,NM_024680 E2F8,E2F8,E2F8 EXON Missense_P468R,Missense_P468R,Missense_P468R exm895636 11 19251519 [T/C] NM_001256371,NM_001256372,NM_024680 E2F8,E2F8,E2F8 EXON Missense_V459M,Missense_V459M,Missense_V459M exm895644 11 19252292 [A/G] NM_001256371,NM_001256372,NM_024680 E2F8,E2F8,E2F8 EXON Missense_R386C,Missense_R386C,Missense_R386C exm895646 11 19252304 [A/G] NM_001256371,NM_001256372,NM_024680 E2F8,E2F8,E2F8 EXON Missense_L382F,Missense_L382F,Missense_L382F exm895648 11 19252334 [A/G] NM_001256371,NM_001256372,NM_024680 E2F8,E2F8,E2F8 EXON Missense_R372W,Missense_R372W,Missense_R372W exm895649 11 19252340 [C/G] NM_001256371,NM_001256372,NM_024680 E2F8,E2F8,E2F8 EXON Missense_V370L,Missense_V370L,Missense_V370L exm895652 11 19252364 [C/G] NM_001256371,NM_001256372,NM_024680 E2F8,E2F8,E2F8 EXON Missense_H362D,Missense_H362D,Missense_H362D exm895653 11 19252375 [G/C] NM_001256371,NM_001256372,NM_024680 E2F8,E2F8,E2F8 EXON Missense_S358T,Missense_S358T,Missense_S358T exm895665 11 19256306 [T/C] NM_001256371,NM_001256372,NM_024680 E2F8,E2F8,E2F8 EXON Missense_V251M,Missense_V251M,Missense_V251M exm1704899 11 19256365 [A/G] NM_001256371,NM_001256372,NM_024680 E2F8,E2F8,E2F8 EXON Missense_I231T,Missense_I231T,Missense_I231T exm895667 11 19256376 [A/C] NM_001256371,NM_001256372,NM_024680 E2F8,E2F8,E2F8 EXON Missense_E227D,Missense_E227D,Missense_E227D exm895668 11 19256378 [T/C] NM_001256371,NM_001256372,NM_024680 E2F8,E2F8,E2F8 EXON Missense_E227K,Missense_E227K,Missense_E227K exm895675 11 19256509 [A/C] NM_001256371,NM_001256372,NM_024680 E2F8,E2F8,E2F8 EXON Missense_R183L,Missense_R183L,Missense_R183L exm895681 11 19256605 [T/C] NM_001256371,NM_001256372,NM_024680 E2F8,E2F8,E2F8 EXON Missense_N151S,Missense_N151S,Missense_N151S exm895684 11 19259009 [T/G] NM_001256371,NM_001256372,NM_024680 E2F8,E2F8,E2F8 EXON Missense_L101F,Missense_L101F,Missense_L101F exm895690 11 19259438 [T/C] NM_001256371,NM_001256372,NM_024680 E2F8,E2F8,E2F8 EXON Missense_N86S,Missense_N86S,Missense_N86S exm1704906 11 19259598 [T/C] NM_001256371,NM_001256372,NM_024680 E2F8,E2F8,E2F8 EXON Missense_A33T,Missense_A33T,Missense_A33T exm2249741 11 19352288 [A/G] exm-rs874426 11 19569563 [A/C] NM_001111018 NAV2 Silent exm895707 11 19735396 [A/G] NM_001111018,NR_015384,NM_145117,NM_001244963,NM_182964 NAV2,LOC100126784,NAV2,NAV2,NAV2 EXON Silent,Silent,Missense_Y52C,Missense_Y52C,Missense_Y52C exm895713 11 19735499 [A/C] NM_001111018,NR_015384,NM_145117,NM_001244963,NM_182964 NAV2,LOC100126784,NAV2,NAV2,NAV2 EXON Silent,Silent,Missense_F86L,Missense_F86L,Missense_F86L exm-rs7129202 11 19830495 [A/G] NM_001111018,NM_145117,NM_001244963,NM_182964 NAV2,NAV2,NAV2,NAV2 Silent,Silent,Silent,Silent exm895718 11 19854078 [T/C] NM_001111018,NM_145117,NM_001244963,NM_182964 NAV2,NAV2,NAV2,NAV2 EXON Missense_R42C,Missense_R106C,Missense_R106C,Missense_R106C exm895719 11 19854088 [A/G] NM_001111018,NM_145117,NM_001244963,NM_182964 NAV2,NAV2,NAV2,NAV2 EXON Missense_R45K,Missense_R109K,Missense_R109K,Missense_R109K exm895741 11 19913997 [T/C] NM_001111018,NM_145117,NM_001244963,NM_182964 NAV2,NAV2,NAV2,NAV2 EXON Missense_A199V,Missense_A263V,Missense_A286V,Missense_A263V exm895747 11 19914034 [T/C] NM_001111018,NM_145117,NM_001244963,NM_182964 NAV2,NAV2,NAV2,NAV2 EXON Synonymous_R211R,Synonymous_R275R,Synonymous_R298R,Synonymous_R275R exm2249746 11 19914034 [T/C] NM_001111018,NM_145117,NM_001244963,NM_182964 NAV2,NAV2,NAV2,NAV2 EXON Synonymous_R211R,Synonymous_R275R,Synonymous_R298R,Synonymous_R275R exm895750 11 19914062 [T/C] NM_001111018,NM_145117,NM_001244963,NM_182964 NAV2,NAV2,NAV2,NAV2 EXON Missense_R221C,Missense_R285C,Missense_R308C,Missense_R285C exm895751 11 19914072 [A/G] NM_001111018,NM_145117,NM_001244963,NM_182964 NAV2,NAV2,NAV2,NAV2 EXON Missense_S224N,Missense_S288N,Missense_S311N,Missense_S288N exm895754 11 19914117 [A/C] NM_001111018,NM_145117,NM_001244963,NM_182964 NAV2,NAV2,NAV2,NAV2 EXON Missense_P239Q,Missense_P303Q,Missense_P326Q,Missense_P303Q exm895755 11 19914120 [T/C] NM_001111018,NM_145117,NM_001244963,NM_182964 NAV2,NAV2,NAV2,NAV2 EXON Missense_P240L,Missense_P304L,Missense_P327L,Missense_P304L exm1705100 11 19954772 [T/C] NM_001111018,NM_145117,NM_001244963,NM_182964 NAV2,NAV2,NAV2,NAV2 EXON Missense_P264S,Missense_P328S,Missense_P351S,Missense_P328S exm895761 11 19954775 [C/G] NM_001111018,NM_145117,NM_001244963,NM_182964 NAV2,NAV2,NAV2,NAV2 EXON Missense_A265P,Missense_A329P,Missense_A352P,Missense_A329P exm895783 11 19955123 [A/G] NM_001111018,NM_145117,NM_001244963,NM_182964 NAV2,NAV2,NAV2,NAV2 EXON Missense_A381T,Missense_A445T,Missense_A468T,Missense_A445T exm895787 11 19955194 [G/C] NM_001111018,NM_145117,NM_001244963,NM_182964 NAV2,NAV2,NAV2,NAV2 EXON Missense_Q404H,Missense_Q468H,Missense_Q491H,Missense_Q468H exm895790 11 19955271 [A/G] NM_001111018,NM_145117,NM_001244963,NM_182964 NAV2,NAV2,NAV2,NAV2 EXON Missense_R430Q,Missense_R494Q,Missense_R517Q,Missense_R494Q exm895791 11 19955322 [T/C] NM_001111018,NM_145117,NM_001244963,NM_182964 NAV2,NAV2,NAV2,NAV2 EXON Missense_T447M,Missense_T511M,Missense_T534M,Missense_T511M exm895793 11 19955340 [A/G] NM_001111018,NM_145117,NM_001244963,NM_182964 NAV2,NAV2,NAV2,NAV2 EXON Missense_K453R,Missense_K517R,Missense_K540R,Missense_K517R exm895798 11 19955416 [A/C] NM_001111018,NM_145117,NM_001244963,NM_182964 NAV2,NAV2,NAV2,NAV2 EXON Missense_F478L,Missense_F542L,Missense_F565L,Missense_F542L exm895803 11 19955490 [T/C] NM_001111018,NM_145117,NM_001244963,NM_182964 NAV2,NAV2,NAV2,NAV2 EXON Missense_P503L,Missense_P567L,Missense_P590L,Missense_P567L exm895808 11 19955519 [T/C] NM_001111018,NM_145117,NM_001244963,NM_182964 NAV2,NAV2,NAV2,NAV2 EXON Missense_P513S,Missense_P577S,Missense_P600S,Missense_P577S exm895811 11 19955552 [T/C] NM_001111018,NM_145117,NM_001244963,NM_182964 NAV2,NAV2,NAV2,NAV2 EXON Missense_R524W,Missense_R588W,Missense_R611W,Missense_R588W exm895813 11 19955559 [A/G] NM_001111018,NM_145117,NM_001244963,NM_182964 NAV2,NAV2,NAV2,NAV2 EXON Missense_R526Q,Missense_R590Q,Missense_R613Q,Missense_R590Q exm895819 11 19955645 [T/C] NM_001111018,NM_145117,NM_001244963,NM_182964 NAV2,NAV2,NAV2,NAV2 EXON Missense_S555P,Missense_S619P,Missense_S642P,Missense_S619P exm895820 11 19955670 [C/G] NM_001111018,NM_145117,NM_001244963,NM_182964 NAV2,NAV2,NAV2,NAV2 EXON Missense_T563S,Missense_T627S,Missense_T650S,Missense_T627S exm895828 11 19961224 [A/C] NM_001111018,NM_145117,NM_001244963,NM_182964 NAV2,NAV2,NAV2,NAV2 EXON Missense_E620A,Missense_E684A,Missense_E707A,Missense_E684A exm1705112 11 19961232 [A/G] NM_001111018,NM_145117,NM_001244963,NM_182964 NAV2,NAV2,NAV2,NAV2 EXON Missense_V623I,Missense_V687I,Missense_V710I,Missense_V687I exm895842 11 19970272 [T/C] NM_001111018,NM_145117,NM_001244963,NM_182964 NAV2,NAV2,NAV2,NAV2 EXON Missense_T700M,Missense_T764M,Missense_T787M,Missense_T764M exm895851 11 19970387 [T/G] NM_001111018,NM_145117,NM_001244963,NM_182964 NAV2,NAV2,NAV2,NAV2 EXON Missense_N738K,Missense_N802K,Missense_N825K,Missense_N802K exm895852 11 19970428 [T/C] NM_001111018,NM_145117,NM_001244963,NM_182964 NAV2,NAV2,NAV2,NAV2 EXON Missense_T752I,Missense_T816I,Missense_T839I,Missense_T816I exm895857 11 19970458 [T/C] NM_001111018,NM_145117,NM_001244963,NM_182964 NAV2,NAV2,NAV2,NAV2 EXON Missense_P762L,Missense_P826L,Missense_P849L,Missense_P826L exm895858 11 19970481 [T/C] NM_001111018,NM_145117,NM_001244963,NM_182964 NAV2,NAV2,NAV2,NAV2 EXON Missense_R770W,Missense_R834W,Missense_R857W,Missense_R834W exm895874 11 20005723 [T/C] NM_001111018,NM_145117,NM_001244963,NM_182964 NAV2,NAV2,NAV2,NAV2 EXON Missense_P836S,Missense_P900S,Missense_P923S,Missense_P900S exm2271471 11 20020097 [T/G] NM_001111018,NM_145117,NM_001244963,NM_182964 NAV2,NAV2,NAV2,NAV2 Silent,Silent,Silent,Silent exm1705171 11 20057546 [C/G] NM_001111018,NM_145117,NM_001244963,NM_182964,NM_001111019 NAV2,NAV2,NAV2,NAV2,NAV2 EXON Missense_T873S,Missense_T937S,Missense_T960S,Missense_T937S,Missense_T23S exm895895 11 20065673 [T/G] NM_001111018,NM_145117,NM_001244963,NM_182964,NM_001111019 NAV2,NAV2,NAV2,NAV2,NAV2 EXON Missense_E954D,Missense_E1018D,Missense_E1041D,Missense_E1018D,Missense_E104D exm895902 11 20065779 [G/C] NM_001111018,NM_145117,NM_001244963,NM_182964,NM_001111019 NAV2,NAV2,NAV2,NAV2,NAV2 EXON Missense_P990A,Missense_P1054A,Missense_P1077A,Missense_P1054A,Missense_P140A exm895913 11 20066705 [A/G] NM_001111018,NM_145117,NM_001244963,NM_182964,NM_001111019 NAV2,NAV2,NAV2,NAV2,NAV2 EXON Missense_G1067S,Missense_G1131S,Missense_G1154S,Missense_G1131S,Missense_G217S exm895917 11 20066808 [A/G] NM_001111018,NM_145117,NM_001244963,NM_182964,NM_001111019 NAV2,NAV2,NAV2,NAV2,NAV2 EXON Missense_R1101Q,Missense_R1165Q,Missense_R1188Q,Missense_R1165Q,Missense_R251Q exm895919 11 20066828 [A/G] NM_001111018,NM_145117,NM_001244963,NM_182964,NM_001111019 NAV2,NAV2,NAV2,NAV2,NAV2 EXON Missense_A1108T,Missense_A1172T,Missense_A1195T,Missense_A1172T,Missense_A258T exm895927 11 20066985 [A/G] NM_001111018,NM_145117,NM_001244963,NM_182964,NM_001111019 NAV2,NAV2,NAV2,NAV2,NAV2 EXON Missense_G1160D,Missense_G1224D,Missense_G1247D,Missense_G1224D,Missense_G310D exm895938 11 20067180 [G/C] NM_001111018,NM_145117,NM_001244963,NM_182964,NM_001111019 NAV2,NAV2,NAV2,NAV2,NAV2 EXON Missense_A1225G,Missense_A1289G,Missense_A1312G,Missense_A1289G,Missense_A375G exm895944 11 20070441 [A/G] NM_001111018,NM_145117,NM_001244963,NM_182964,NM_001111019 NAV2,NAV2,NAV2,NAV2,NAV2 EXON Missense_S1293N,Missense_S1357N,Missense_S1380N,Missense_S1357N,Missense_S443N exm895945 11 20070533 [A/G] NM_001111018,NM_145117,NM_001244963,NM_182964,NM_001111019 NAV2,NAV2,NAV2,NAV2,NAV2 EXON Missense_A1324T,Missense_A1388T,Missense_A1411T,Missense_A1388T,Missense_A474T exm895950 11 20070668 [A/G] NM_001111018,NM_145117,NM_001244963,NM_182964,NM_001111019 NAV2,NAV2,NAV2,NAV2,NAV2 EXON Missense_I1369V,Missense_I1433V,Missense_I1456V,Missense_I1433V,Missense_I519V exm1705191 11 20071386 [G/C] NM_001111018,NM_145117,NM_001244963,NM_182964,NM_001111019 NAV2,NAV2,NAV2,NAV2,NAV2 EXON Missense_L1395V,Missense_L1459V,Missense_L1482V,Missense_L1459V,Silent exm895969 11 20075661 [A/G] NM_001111018,NM_145117,NM_001244963,NM_182964,NM_001111019 NAV2,NAV2,NAV2,NAV2,NAV2 EXON Missense_D1442G,Missense_D1506G,Missense_D1529G,Missense_D1506G,Missense_D570G exm895974 11 20075759 [A/G] NM_001111018,NM_145117,NM_001244963,NM_182964,NM_001111019 NAV2,NAV2,NAV2,NAV2,NAV2 EXON Missense_G1475R,Missense_G1539R,Missense_G1562R,Missense_G1539R,Missense_G603R exm895976 11 20077315 [T/C] NM_001111018,NM_145117,NM_001244963,NM_182964,NM_001111019 NAV2,NAV2,NAV2,NAV2,NAV2 EXON Missense_A1484V,Missense_A1548V,Missense_A1571V,Missense_A1548V,Missense_A612V exm895978 11 20077419 [T/C] NM_001111018,NM_145117,NM_001244963,NM_182964,NM_001111019 NAV2,NAV2,NAV2,NAV2,NAV2 EXON Missense_R1519C,Missense_R1583C,Missense_R1606C,Missense_R1583C,Missense_R647C exm895979 11 20077425 [T/C] NM_001111018,NM_145117,NM_001244963,NM_182964,NM_001111019 NAV2,NAV2,NAV2,NAV2,NAV2 EXON Missense_R1521W,Missense_R1585W,Missense_R1608W,Missense_R1585W,Missense_R649W exm895990 11 20083905 [A/C] NM_001111018,NM_145117,NM_001244963,NM_182964,NM_001111019 NAV2,NAV2,NAV2,NAV2,NAV2 EXON Synonymous_T1564T,Synonymous_T1628T,Synonymous_T1684T,Synonymous_T1628T,Synonymous_T692T exm895997 11 20089944 [T/C] NM_001111018,NM_145117,NM_001244963,NM_182964,NM_001111019 NAV2,NAV2,NAV2,NAV2,NAV2 EXON Synonymous_N1597N,Synonymous_N1661N,Synonymous_N1717N,Synonymous_N1661N,Synonymous_N725N exm896010 11 20101610 [G/C] NM_001111018,NM_145117,NM_001244963,NM_182964,NM_001111019 NAV2,NAV2,NAV2,NAV2,NAV2 EXON Missense_G1663A,Missense_G1727A,Missense_G1783A,Missense_G1727A,Missense_G791A exm896015 11 20101690 [A/C] NM_001111018,NM_145117,NM_001244963,NM_182964,NM_001111019 NAV2,NAV2,NAV2,NAV2,NAV2 EXON Missense_T1690P,Missense_T1754P,Missense_T1810P,Missense_T1754P,Missense_T818P exm896018 11 20101715 [A/C] NM_001111018,NM_145117,NM_001244963,NM_182964,NM_001111019 NAV2,NAV2,NAV2,NAV2,NAV2 EXON Missense_N1698T,Missense_N1762T,Missense_N1818T,Missense_N1762T,Missense_N826T exm896032 11 20104682 [T/A] NM_001111018,NM_145117,NM_001244963,NM_182964,NM_001111019 NAV2,NAV2,NAV2,NAV2,NAV2 EXON Missense_T1755S,Missense_T1819S,Missense_T1878S,Missense_T1822S,Missense_T883S exm896040 11 20113846 [C/G] NM_001111018,NM_145117,NM_001244963,NM_182964,NM_001111019 NAV2,NAV2,NAV2,NAV2,NAV2 EXON Missense_S1852C,Missense_S1916C,Missense_S1975C,Missense_S1919C,Missense_S980C exm896042 11 20113866 [A/G] NM_001111018,NM_145117,NM_001244963,NM_182964,NM_001111019 NAV2,NAV2,NAV2,NAV2,NAV2 EXON Missense_M1859V,Missense_M1923V,Missense_M1982V,Missense_M1926V,Missense_M987V exm896060 11 20119127 [A/G] NM_001111018,NM_145117,NM_001244963,NM_182964,NM_001111019 NAV2,NAV2,NAV2,NAV2,NAV2 EXON Missense_Y1942C,Missense_Y2006C,Missense_Y2065C,Missense_Y2009C,Missense_Y1070C exm896061 11 20119135 [A/C] NM_001111018,NM_145117,NM_001244963,NM_182964,NM_001111019 NAV2,NAV2,NAV2,NAV2,NAV2 EXON Missense_H1945N,Missense_H2009N,Missense_H2068N,Missense_H2012N,Missense_H1073N exm896065 11 20119222 [A/G] NM_001111018,NM_145117,NM_001244963,NM_182964,NM_001111019 NAV2,NAV2,NAV2,NAV2,NAV2 EXON Missense_E1974K,Missense_E2038K,Missense_E2097K,Missense_E2041K,Missense_E1102K exm896071 11 20122488 [A/G] NM_001111018,NM_145117,NM_001244963,NM_182964,NM_001111019 NAV2,NAV2,NAV2,NAV2,NAV2 EXON Missense_A1999T,Missense_A2063T,Missense_A2122T,Missense_A2066T,Missense_A1127T exm2276156 11 20122578 [A/C] NM_001111018,NM_145117,NM_001244963,NM_182964,NM_001111019 NAV2,NAV2,NAV2,NAV2,NAV2 EXON Synonymous_R2029R,Synonymous_R2093R,Synonymous_R2152R,Synonymous_R2096R,Synonymous_R1157R exm896073 11 20122617 [T/C] NM_001111018,NM_145117,NM_001244963,NM_182964,NM_001111019 NAV2,NAV2,NAV2,NAV2,NAV2 EXON Missense_Y2042H,Missense_Y2106H,Missense_Y2165H,Missense_Y2109H,Missense_Y1170H exm896077 11 20122644 [A/G] NM_001111018,NM_145117,NM_001244963,NM_182964,NM_001111019 NAV2,NAV2,NAV2,NAV2,NAV2 EXON Missense_I2051V,Missense_I2115V,Missense_I2174V,Missense_I2118V,Missense_I1179V exm896083 11 20124807 [T/C] NM_001111018,NM_145117,NM_001244963,NM_182964,NM_001111019 NAV2,NAV2,NAV2,NAV2,NAV2 EXON Missense_R2078C,Missense_R2142C,Missense_R2201C,Missense_R2145C,Missense_R1206C exm896086 11 20124873 [A/G] NM_001111018,NM_145117,NM_001244963,NM_182964,NM_001111019 NAV2,NAV2,NAV2,NAV2,NAV2 EXON Missense_V2100I,Missense_V2164I,Missense_V2223I,Missense_V2167I,Missense_V1228I exm2249749 11 20124914 [A/C] NM_001111018,NM_145117,NM_001244963,NM_182964,NM_001111019 NAV2,NAV2,NAV2,NAV2,NAV2 EXON Synonymous_G2113G,Synonymous_G2177G,Synonymous_G2236G,Synonymous_G2180G,Synonymous_G1241G exm896091 11 20125242 [T/C] NM_001111018,NM_145117,NM_001244963,NM_182964,NM_001111019 NAV2,NAV2,NAV2,NAV2,NAV2 EXON Missense_P2142S,Missense_P2206S,Missense_P2265S,Missense_P2209S,Missense_P1270S exm2264445 11 20127046 [A/C] NM_001111018,NM_145117,NM_001244963,NM_182964,NM_001111019 NAV2,NAV2,NAV2,NAV2,NAV2 Silent,Silent,Silent,Silent,Silent exm896101 11 20127235 [A/G] NM_001111018,NM_145117,NM_001244963,NM_182964,NM_001111019 NAV2,NAV2,NAV2,NAV2,NAV2 EXON Missense_R2204H,Missense_R2268H,Missense_R2327H,Missense_R2271H,Missense_R1332H exm896113 11 20129311 [A/G] NM_001111018,NM_145117,NM_001244963,NM_182964,NM_001111019 NAV2,NAV2,NAV2,NAV2,NAV2 EXON Missense_V2251I,Missense_V2315I,Missense_V2374I,Missense_V2318I,Missense_V1379I exm896129 11 20139768 [A/T] NM_001111018,NM_145117,NM_001244963,NM_182964,NM_001111019 NAV2,NAV2,NAV2,NAV2,NAV2 EXON Missense_D2354E,Missense_D2418E,Missense_D2477E,Missense_D2421E,Missense_D1482E exm896145 11 20177967 [G/C] NM_001029865 DBX1 EXON Missense_N275K exm896146 11 20177980 [T/C] NM_001029865 DBX1 EXON Missense_K271R exm896148 11 20178076 [G/C] NM_001029865 DBX1 EXON Missense_S239C exm896169 11 20178744 [T/G] NM_001029865 DBX1 EXON Missense_P171T exm896177 11 20180836 [T/A] NM_001029865 DBX1 EXON Missense_T124S exm2271472 11 20301930 [T/C] exm2218418 11 20385931 [A/G] NM_006410,NM_001098521,NM_001098520,NM_001098522,NM_001098523 HTATIP2,HTATIP2,HTATIP2,HTATIP2,HTATIP2 EXON Missense_I50V,Missense_I50V,Missense_I84V,Missense_I50V,Missense_I50V exm896202 11 20388789 [T/G] NM_006410,NM_001098521,NM_001098520,NM_001098522,NM_001098523 HTATIP2,HTATIP2,HTATIP2,HTATIP2,HTATIP2 EXON Missense_F89V,Missense_F89V,Missense_F123V,Missense_F89V,Missense_F89V exm896203 11 20388820 [G/C] NM_006410,NM_001098521,NM_001098520,NM_001098522,NM_001098523 HTATIP2,HTATIP2,HTATIP2,HTATIP2,HTATIP2 EXON Missense_A99G,Missense_A99G,Missense_A133G,Missense_A99G,Missense_A99G exm896205 11 20388826 [T/C] NM_006410,NM_001098521,NM_001098520,NM_001098522,NM_001098523 HTATIP2,HTATIP2,HTATIP2,HTATIP2,HTATIP2 EXON Missense_A101V,Missense_A101V,Missense_A135V,Missense_A101V,Missense_A101V exm896216 11 20403739 [A/G] NM_006410,NM_001098521,NM_001098520,NM_001098522 HTATIP2,HTATIP2,HTATIP2,HTATIP2 EXON Missense_K153E,Missense_K153E,Missense_K187E,Missense_K153E exm896230 11 20404638 [A/G] NM_006410,NM_001098521,NM_001098520,NM_001098522 HTATIP2,HTATIP2,HTATIP2,HTATIP2 EXON Missense_V206M,Missense_V206M,Missense_V240M,Missense_V206M exm896231 11 20404703 [C/G] NM_006410,NM_001098521,NM_001098520,NM_001098522 HTATIP2,HTATIP2,HTATIP2,HTATIP2 EXON Missense_N227K,Missense_N227K,Missense_N261K,Missense_N227K exm896250 11 20409697 [A/T] NM_001145167,NM_005788,NM_001145166 PRMT3,PRMT3,PRMT3 EXON Silent,Missense_N54I,Silent exm896260 11 20413757 [A/G] NM_001145167,NM_005788,NM_001145166 PRMT3,PRMT3,PRMT3 EXON Missense_G6E,Missense_G83E,Silent exm896269 11 20417397 [A/G] NM_001145167,NM_005788,NM_001145166 PRMT3,PRMT3,PRMT3 EXON Missense_N73S,Missense_N150S,Missense_N88S exm896270 11 20417471 [A/G] NM_001145167,NM_005788,NM_001145166 PRMT3,PRMT3,PRMT3 EXON Missense_A98T,Missense_A175T,Missense_A113T exm896286 11 20424519 [T/C] NM_001145167,NM_005788,NM_001145166 PRMT3,PRMT3,PRMT3 EXON Missense_F177L,Missense_F254L,Missense_F192L exm896291 11 20429496 [A/C] NM_001145167,NM_005788,NM_001145166 PRMT3,PRMT3,PRMT3 EXON Missense_M194L,Missense_M271L,Missense_M209L exm896296 11 20429574 [A/T] NM_001145167,NM_005788,NM_001145166 PRMT3,PRMT3,PRMT3 EXON Missense_I220L,Missense_I297L,Missense_I235L exm-rs10741838 11 20447419 [T/C] NM_001145167,NM_005788,NM_001145166 PRMT3,PRMT3,PRMT3 Silent,Silent,Silent exm896301 11 20448377 [T/C] NM_001145167,NM_005788,NM_001145166 PRMT3,PRMT3,PRMT3 EXON Missense_V243A,Missense_V320A,Missense_V258A exm896305 11 20473718 [T/C] NM_001145167,NM_005788,NM_001145166 PRMT3,PRMT3,PRMT3 EXON Missense_Y269H,Missense_Y346H,Missense_Y284H exm896310 11 20483649 [T/C] NM_001145167,NM_005788,NM_001145166 PRMT3,PRMT3,PRMT3 EXON Missense_I322T,Missense_I399T,Missense_I337T exm896314 11 20483700 [G/C] NM_001145167,NM_005788,NM_001145166 PRMT3,PRMT3,PRMT3 EXON Missense_P339R,Missense_P416R,Missense_P354R exm2218420 11 20486063 [G/C] NM_001145167,NM_005788,NM_001145166 PRMT3,PRMT3,PRMT3 EXON Missense_L363V,Missense_L440V,Missense_L378V exm896329 11 20529886 [A/G] NM_001145167,NM_005788,NM_001145166 PRMT3,PRMT3,PRMT3 EXON Missense_S431N,Missense_S508N,Missense_S446N exm896331 11 20529892 [A/G] NM_001145167,NM_005788,NM_001145166 PRMT3,PRMT3,PRMT3 EXON Missense_K433R,Missense_K510R,Missense_K448R exm-rs7128311 11 20562519 [T/C] exm2249758 11 20622728 [T/G] NM_004211 SLC6A5 EXON Synonymous_A19A exm896347 11 20622730 [T/C] NM_004211 SLC6A5 EXON Missense_A20V exm896353 11 20622937 [A/C] NM_004211 SLC6A5 EXON Missense_A89E exm896361 11 20623027 [A/G] NM_004211 SLC6A5 EXON Missense_H119R exm896362 11 20623042 [T/C] NM_004211 SLC6A5 EXON Missense_F124S exm896365 11 20623066 [G/C] NM_004211 SLC6A5 EXON Missense_A132G exm896367 11 20623090 [A/C] NM_004211 SLC6A5 EXON Missense_T140N exm896372 11 20623171 [A/C] NM_004211 SLC6A5 EXON Missense_T167K exm1705628 11 20625832 [A/G] NM_004211 SLC6A5 EXON Missense_E181K exm1705637 11 20629169 [A/G] NM_004211 SLC6A5 EXON Missense_E319G exm896401 11 20636285 [T/C] NM_004211 SLC6A5 EXON Missense_T349I exm896406 11 20639339 [T/G] NM_004211 SLC6A5 EXON Missense_G390V exm896421 11 20648364 [C/G] NM_004211 SLC6A5 EXON Missense_K457N exm896422 11 20648380 [A/G] NM_004211 SLC6A5 EXON Missense_D463N exm896424 11 20648387 [T/C] NM_004211 SLC6A5 EXON Missense_T465M exm896427 11 20649626 [A/T] NM_004211 SLC6A5 EXON Missense_Y499F exm896449 11 20668480 [T/C] NM_004211 SLC6A5 EXON Synonymous_T690T exm896459 11 20673935 [G/C] NM_004211 SLC6A5 EXON Missense_C724S exm896469 11 20676287 [T/C] NM_004211 SLC6A5 EXON Missense_P756L exm896475 11 20676316 [T/C] NM_004211 SLC6A5 EXON Missense_R766C exm896476 11 20676319 [A/G] NM_004211 SLC6A5 EXON Missense_G767R exm896477 11 20676326 [A/G] NM_004211 SLC6A5 EXON Missense_R769H exm-rs1793004 11 20698929 [C/G] NM_006157,NM_201551 NELL1,NELL1 Silent,Silent exm896488 11 20699576 [T/C] NM_006157,NM_201551 NELL1,NELL1 EXON Missense_H52Y,Missense_H52Y exm896492 11 20805285 [T/C] NM_006157,NM_201551 NELL1,NELL1 EXON Missense_R82W,Missense_R82W exm896493 11 20805286 [A/G] NM_006157,NM_201551 NELL1,NELL1 EXON Missense_R82Q,Missense_R82Q exm896499 11 20869250 [A/G] NM_006157,NM_201551 NELL1,NELL1 EXON Missense_A153T,Missense_A153T exm896504 11 20907060 [T/C] NM_006157,NM_201551 NELL1,NELL1 EXON Missense_R193C,Missense_R193C exm896505 11 20907061 [A/G] NM_006157,NM_201551 NELL1,NELL1 EXON Missense_R193H,Missense_R193H exm896506 11 20907067 [A/G] NM_006157,NM_201551 NELL1,NELL1 EXON Missense_Q195R,Missense_Q195R exm2271589 11 20931291 [T/C] NM_006157,NM_201551 NELL1,NELL1 Silent,Silent exm896509 11 20939755 [T/G] NM_006157,NM_201551 NELL1,NELL1 EXON Missense_F211V,Missense_F211V exm896510 11 20939762 [T/C] NM_006157,NM_201551 NELL1,NELL1 EXON Missense_P213L,Missense_P213L exm896518 11 20940863 [T/G] NM_006157,NM_201551 NELL1,NELL1 EXON Missense_A248S,Missense_A248S exm896522 11 20948936 [G/C] NM_006157,NM_201551 NELL1,NELL1 EXON Missense_R281P,Missense_R281P exm896523 11 20948953 [A/G] NM_006157,NM_201551 NELL1,NELL1 EXON Missense_V287I,Missense_V287I exm896528 11 20949960 [T/C] NM_006157,NM_201551 NELL1,NELL1 EXON Missense_P311L,Missense_P311L exm896529 11 20949966 [A/G] NM_006157,NM_201551 NELL1,NELL1 EXON Missense_N313S,Missense_N313S exm896531 11 20959394 [T/C] NM_006157,NM_201551 NELL1,NELL1 EXON Missense_R354W,Missense_R354W exm896538 11 20968956 [G/C] NM_006157,NM_201551 NELL1,NELL1 EXON Missense_E382D,Missense_E382D exm896540 11 20968969 [T/C] NM_006157,NM_201551 NELL1,NELL1 EXON Missense_R387C,Missense_R387C exm896541 11 20968970 [A/G] NM_006157,NM_201551 NELL1,NELL1 EXON Missense_R387H,Missense_R387H exm1705784 11 20982082 [G/C] NM_006157,NM_201551 NELL1,NELL1 EXON Missense_Q426E,Missense_Q426E exm2271473 11 21011821 [T/C] NM_006157,NM_201551 NELL1,NELL1 Silent,Silent exm896552 11 21135237 [A/G] NM_006157,NM_201551 NELL1,NELL1 EXON Missense_R468H,Missense_R468H exm896555 11 21250898 [A/G] NM_006157,NM_201551 NELL1,NELL1 EXON Missense_G483S,Missense_G483S exm896558 11 21250959 [T/C] NM_006157,NM_201551 NELL1,NELL1 EXON Missense_T503I,Missense_T503I exm896564 11 21392425 [A/G] NM_006157,NM_201551 NELL1,NELL1 EXON Missense_G526S,Missense_G526S exm896571 11 21555938 [A/C] NM_006157,NM_201551 NELL1,NELL1 EXON Missense_E555A,Silent exm896576 11 21555968 [T/G] NM_006157,NM_201551 NELL1,NELL1 EXON Missense_R565L,Silent exm2218424 11 21555973 [A/G] NM_006157,NM_201551 NELL1,NELL1 EXON Missense_V567I,Silent exm896581 11 21556039 [C/G] NM_006157,NM_201551 NELL1,NELL1 EXON Missense_L589V,Silent exm896587 11 21581854 [T/C] NM_006157,NM_201551 NELL1,NELL1 EXON Missense_H636Y,Missense_H589Y exm896588 11 21581861 [A/G] NM_006157,NM_201551 NELL1,NELL1 EXON Missense_G638E,Missense_G591E exm1705833 11 21581912 [T/C] NM_006157,NM_201551 NELL1,NELL1 EXON Missense_S655F,Missense_S608F exm896593 11 21592329 [A/G] NM_006157,NM_201551 NELL1,NELL1 EXON Missense_R667Q,Missense_R620Q exm896604 11 21594812 [T/C] NM_006157,NM_201551 NELL1,NELL1 EXON Missense_P747S,Missense_P700S exm896606 11 21594816 [A/G] NM_006157,NM_201551 NELL1,NELL1 EXON Missense_R748H,Missense_R701H exm896610 11 21594896 [T/C] NM_006157,NM_201551 NELL1,NELL1 EXON Missense_R775W,Missense_R728W exm896613 11 21596539 [A/G] NM_006157,NM_201551 NELL1,NELL1 EXON Missense_V802M,Missense_V755M exm2271590 11 22173372 [T/C] exm896636 11 22239808 [A/G] NM_001142649,NM_213599 ANO5,ANO5 EXON Missense_N51S,Missense_N52S exm896643 11 22242704 [A/G] NM_001142649,NM_213599 ANO5,ANO5 EXON Missense_D80G,Missense_D81G exm896644 11 22242721 [A/G] NM_001142649,NM_213599 ANO5,ANO5 EXON Missense_V86I,Missense_V87I exm896649 11 22242755 [T/C] NM_001142649,NM_213599 ANO5,ANO5 EXON Missense_A97V,Missense_A98V exm896650 11 22242756 [A/G] NM_001142649,NM_213599 ANO5,ANO5 EXON Synonymous_A97A,Synonymous_A98A exm896658 11 22248962 [T/C] NM_001142649,NM_213599 ANO5,ANO5 EXON Missense_R159C,Missense_R160C exm896662 11 22249017 [G/C] NM_001142649,NM_213599 ANO5,ANO5 EXON Missense_S177T,Missense_S178T exm896664 11 22249037 [G/C] NM_001142649,NM_213599 ANO5,ANO5 EXON Missense_E184Q,Missense_E185Q exm896670 11 22249088 [A/G] NM_001142649,NM_213599 ANO5,ANO5 EXON Missense_E201K,Missense_E202K exm896671 11 22249100 [A/G] NM_001142649,NM_213599 ANO5,ANO5 EXON Missense_T205A,Missense_T206A exm896673 11 22257740 [C/G] NM_001142649,NM_213599 ANO5,ANO5 EXON Missense_G226A,Missense_G227A exm896674 11 22257749 [A/G] NM_001142649,NM_213599 ANO5,ANO5 EXON Missense_D229G,Missense_D230G exm896676 11 22257752 [T/G] NM_001142649,NM_213599 ANO5,ANO5 EXON Missense_G230V,Missense_G231V exm896681 11 22261152 [C/G] NM_001142649,NM_213599 ANO5,ANO5 EXON Missense_T266S,Missense_T267S exm896689 11 22271870 [A/T] NM_001142649,NM_213599 ANO5,ANO5 EXON Missense_L321F,Missense_L322F exm896694 11 22272309 [A/C] NM_001142649,NM_213599 ANO5,ANO5 EXON Missense_I345L,Missense_I346L exm896708 11 22279254 [T/C] NM_001142649,NM_213599 ANO5,ANO5 EXON Missense_T453M,Missense_T454M exm896717 11 22281173 [A/G] NM_001142649,NM_213599 ANO5,ANO5 EXON Missense_S505G,Missense_S506G exm896721 11 22281210 [G/C] NM_001142649,NM_213599 ANO5,ANO5 EXON Missense_G517A,Missense_G518A exm1705980 11 22281220 [T/G] NM_001142649,NM_213599 ANO5,ANO5 EXON Missense_L520F,Missense_L521F exm896724 11 22283684 [A/G] NM_001142649,NM_213599 ANO5,ANO5 EXON Missense_R546Q,Missense_R547Q exm896728 11 22283777 [T/C] NM_001142649,NM_213599 ANO5,ANO5 EXON Missense_F577S,Missense_F578S exm896736 11 22284590 [A/G] NM_001142649,NM_213599 ANO5,ANO5 Silent,Silent exm896739 11 22291892 [T/C] NM_001142649,NM_213599 ANO5,ANO5 EXON Missense_R644W,Missense_R645W exm896743 11 22294441 [G/C] NM_001142649,NM_213599 ANO5,ANO5 EXON Missense_T713S,Missense_T714S exm2249770 11 22296138 [A/G] NM_001142649,NM_213599 ANO5,ANO5 EXON Synonymous_S752S,Synonymous_S753S exm896749 11 22296151 [T/C] NM_001142649,NM_213599 ANO5,ANO5 EXON Missense_R757C,Missense_R758C exm896754 11 22296233 [T/G] NM_001142649,NM_213599 ANO5,ANO5 EXON Missense_L784R,Missense_L785R exm896756 11 22296266 [T/C] NM_001142649,NM_213599 ANO5,ANO5 EXON Missense_S795L,Missense_S796L exm2218433 11 22297707 [T/G] NM_001142649,NM_213599 ANO5,ANO5 EXON Missense_V827F,Missense_V828F exm896767 11 22301215 [G/C] NM_001142649,NM_213599 ANO5,ANO5 EXON Missense_N881K,Missense_N882K exm896768 11 22301267 [A/C] NM_001142649,NM_213599 ANO5,ANO5 EXON Missense_M899L,Missense_M900L exm-rs7118075 11 22341713 [A/G] exm896803 11 22387179 [T/C] NM_020346 SLC17A6 EXON Missense_R279C exm896808 11 22391591 [A/G] NM_020346 SLC17A6 EXON Missense_K300E exm896832 11 22399189 [A/G] NM_020346 SLC17A6 EXON Missense_N551S exm896835 11 22399255 [A/C] NM_020346 SLC17A6 EXON Missense_H573P exm896836 11 22399259 [G/C] NM_020346 SLC17A6 EXON Missense_S574R exm2271474 11 22444436 [T/C] exm2271591 11 22484739 [T/C] exm896840 11 22646270 [A/G] NM_022725 FANCF EXON Nonsense_Q363X exm896844 11 22646398 [A/G] NM_022725 FANCF EXON Missense_P320L exm896848 11 22646474 [T/C] NM_022725 FANCF EXON Missense_V295I exm896858 11 22646561 [A/G] NM_022725 FANCF EXON Missense_R266C exm896862 11 22646629 [T/C] NM_022725 FANCF EXON Missense_G243E exm896868 11 22646710 [C/G] NM_022725 FANCF EXON Missense_R216P exm1706086 11 22646720 [A/G] NM_022725 FANCF EXON Missense_P213S exm896869 11 22646724 [A/C] NM_022725 FANCF EXON Missense_Q211H exm896872 11 22646784 [C/G] NM_022725 FANCF EXON Missense_S191R exm896873 11 22646800 [A/G] NM_022725 FANCF EXON Missense_A186V exm896880 11 22646984 [T/C] NM_022725 FANCF EXON Missense_D125N exm896900 11 22647266 [T/C] NM_022725 FANCF EXON Missense_V31M exm896909 11 22696506 [A/G] NM_001143830,NM_177553,NM_005256 GAS2,GAS2,GAS2 EXON Missense_A31T,Missense_A31T,Missense_A31T exm896912 11 22707296 [T/G] NM_001143830,NM_177553,NM_005256 GAS2,GAS2,GAS2 EXON Missense_E76D,Missense_E76D,Missense_E76D exm896920 11 22747964 [C/G] NM_001143830,NM_177553,NM_005256 GAS2,GAS2,GAS2 EXON Missense_E132Q,Missense_E132Q,Missense_E132Q exm896927 11 22777416 [T/C] NM_001143830,NM_177553,NM_005256 GAS2,GAS2,GAS2 EXON Missense_P214S,Missense_P214S,Missense_P214S exm-rs7111546 11 22829757 [T/C] NM_001143830,NM_177553,NM_005256 GAS2,GAS2,GAS2 Silent,Silent,Silent exm-rs712022 11 22843155 [T/A] exm896938 11 22844681 [T/C] NM_148893 SVIP Silent exm896948 11 22881002 [T/C] NM_001195637 CCDC179 EXON Missense_R29Q exm-rs10833905 11 23044592 [T/A] exm2271475 11 23079457 [T/C] exm2271476 11 23368595 [T/C] exm2271592 11 23726195 [T/C] exm2267256 11 24029671 [A/G] exm2249774 11 24081147 [T/C] exm2271478 11 24544761 [T/C] NM_001252010,NM_001252008,NM_001009909 LUZP2,LUZP2,LUZP2 Silent,Silent,Silent exm-rs4561213 11 24678819 [T/G] NM_001252010,NM_001252008,NM_001009909 LUZP2,LUZP2,LUZP2 Silent,Silent,Silent exm896970 11 24759780 [T/G] NM_001252010,NM_001252008,NM_001009909 LUZP2,LUZP2,LUZP2 EXON Missense_S89A,Missense_S3A,Missense_S89A exm2267160 11 24838908 [A/G] NM_001252010,NM_001252008,NM_001009909 LUZP2,LUZP2,LUZP2 Silent,Silent,Silent exm-rs10500991 11 24849566 [T/C] NM_001252010,NM_001252008,NM_001009909 LUZP2,LUZP2,LUZP2 Silent,Silent,Silent exm896980 11 24927598 [A/C] NM_001252010,NM_001252008,NM_001009909 LUZP2,LUZP2,LUZP2 EXON Silent,Missense_E67A,Missense_E153A exm896992 11 24998180 [A/G] NM_001252010,NM_001252008,NM_001009909 LUZP2,LUZP2,LUZP2 EXON Missense_K147R,Missense_K103R,Missense_K189R exm896994 11 25004730 [A/G] NM_001252010,NM_001252008,NM_001009909 LUZP2,LUZP2,LUZP2 EXON Missense_R177H,Missense_R133H,Missense_R219H exm897004 11 25071660 [T/C] NM_001252010,NM_001252008,NM_001009909 LUZP2,LUZP2,LUZP2 EXON Missense_A239V,Missense_A195V,Missense_A281V exm1706680 11 25098885 [T/C] NM_001252010,NM_001252008,NM_001009909 LUZP2,LUZP2,LUZP2 EXON Missense_P248L,Missense_P204L,Missense_P290L exm897007 11 25098911 [T/C] NM_001252010,NM_001252008,NM_001009909 LUZP2,LUZP2,LUZP2 EXON Missense_P257S,Missense_P213S,Missense_P299S exm897008 11 25098938 [G/C] NM_001252010,NM_001252008,NM_001009909 LUZP2,LUZP2,LUZP2 EXON Missense_E266Q,Missense_E222Q,Missense_E308Q exm2271593 11 25140782 [T/C] exm-rs12794435 11 25207704 [A/G] exm2259755 11 25585180 [A/G] exm2264415 11 25929959 [A/C] exm897025 11 26463582 [T/C] NM_031418 ANO3 EXON Missense_S55F exm897029 11 26465310 [A/C] NM_031418 ANO3 Silent exm897039 11 26484670 [A/C] NM_031418 ANO3 EXON Missense_S136Y exm2267162 11 26500273 [A/G] NM_031418 ANO3 Silent exm897049 11 26547193 [A/G] NM_031418 ANO3 EXON Missense_Y235C exm897051 11 26547204 [A/G] NM_031418 ANO3 EXON Missense_G239R exm897069 11 26563564 [A/G] NM_031418 ANO3 EXON Missense_R368H exm897088 11 26582662 [A/G] NM_031418,NM_001135091,NM_145650,NM_001135092 ANO3,MUC15,MUC15,MUC15 EXON Silent,Missense_R346C,Missense_R319C,Missense_R296C exm897091 11 26582751 [A/G] NM_031418,NM_001135091,NM_145650,NM_001135092 ANO3,MUC15,MUC15,MUC15 EXON Silent,Missense_P316L,Missense_P289L,Missense_P266L exm2274468 11 26582752 [A/G] NM_031418,NM_001135091,NM_145650,NM_001135092 ANO3,MUC15,MUC15,MUC15 EXON Silent,Missense_P316S,Missense_P289S,Missense_P266S exm897101 11 26586729 [A/G] NM_031418,NM_001135091,NM_145650,NM_001135092 ANO3,MUC15,MUC15,MUC15 EXON Silent,Missense_T253M,Missense_T226M,Missense_T253M exm897104 11 26586796 [A/G] NM_031418,NM_001135091,NM_145650,NM_001135092 ANO3,MUC15,MUC15,MUC15 EXON Silent,Missense_Y231H,Missense_Y204H,Missense_Y231H exm897105 11 26586801 [A/G] NM_031418,NM_001135091,NM_145650,NM_001135092 ANO3,MUC15,MUC15,MUC15 EXON Silent,Missense_T229I,Missense_T202I,Missense_T229I exm897107 11 26586855 [A/G] NM_031418,NM_001135091,NM_145650,NM_001135092 ANO3,MUC15,MUC15,MUC15 EXON Silent,Missense_I211T,Missense_I184T,Missense_I211T exm897111 11 26587018 [T/C] NM_031418,NM_001135091,NM_145650,NM_001135092 ANO3,MUC15,MUC15,MUC15 EXON Silent,Missense_D157N,Missense_D130N,Missense_D157N exm897119 11 26587179 [T/C] NM_031418,NM_001135091,NM_145650,NM_001135092 ANO3,MUC15,MUC15,MUC15 EXON Silent,Missense_N103S,Missense_N76S,Missense_N103S exm897126 11 26587350 [G/C] NM_031418,NM_001135091,NM_145650,NM_001135092 ANO3,MUC15,MUC15,MUC15 EXON Silent,Missense_S46W,Missense_S19W,Missense_S46W exm1706827 11 26587423 [T/C] NM_031418,NM_001135091,NM_145650,NM_001135092 ANO3,MUC15,MUC15,MUC15 EXON Silent,Missense_I22V,Silent,Missense_I22V exm-rs12295638 11 26605331 [T/C] NM_031418 ANO3 Silent exm1706833 11 26621238 [A/G] NM_031418 ANO3 EXON Missense_I605V exm897204 11 26692773 [T/C] NM_178498 SLC5A12 EXON Missense_R578Q exm897205 11 26692777 [T/C] NM_178498 SLC5A12 EXON Missense_A577T exm897214 11 26700310 [G/C] NM_178498 SLC5A12 EXON Missense_V510L exm897218 11 26702623 [T/C] NM_178498 SLC5A12 EXON Missense_G485E exm897227 11 26705327 [T/C] NM_178498 SLC5A12 EXON Missense_V429M exm897230 11 26708077 [T/C] NM_178498 SLC5A12 EXON Missense_V390M exm897237 11 26714144 [T/C] NM_178498 SLC5A12 EXON Missense_V349M exm897241 11 26718732 [A/C] NM_178498 SLC5A12 EXON Missense_C340F exm897242 11 26718761 [A/C] NM_178498 SLC5A12 EXON Missense_M330I exm2274469 11 26725160 [A/G] NM_178498 SLC5A12 EXON Missense_F247L exm1706884 11 26725189 [C/G] NM_178498 SLC5A12 EXON Missense_T237S exm897253 11 26725195 [T/C] NM_178498 SLC5A12 EXON Missense_R235Q exm2259756 11 26728438 [A/G] NM_178498 SLC5A12 Silent exm897259 11 26732884 [A/C] NM_178498 SLC5A12 EXON Missense_V143L exm897262 11 26734188 [T/C] NM_178498 SLC5A12 EXON Synonymous_T135T exm897271 11 26743169 [A/C] NM_178498 SLC5A12 EXON Missense_K31N exm897273 11 26743240 [T/C] NM_178498 SLC5A12 EXON Missense_V8I exm2264416 11 26770926 [A/C] exm897285 11 27016360 [A/G] NM_203371 FIBIN EXON Missense_R96H exm897288 11 27016404 [A/G] NM_203371 FIBIN EXON Missense_G111R exm897291 11 27016447 [A/G] NM_203371 FIBIN EXON Missense_Q125R exm897294 11 27016503 [T/A] NM_203371 FIBIN EXON Missense_F144I exm1706968 11 27016527 [A/G] NM_203371 FIBIN EXON Missense_S152G exm897297 11 27016611 [T/C] NM_203371 FIBIN EXON Missense_S180P exm897313 11 27078769 [A/G] NM_003986 BBOX1 EXON Missense_E81K exm897316 11 27114715 [A/G] NM_003986 BBOX1 EXON Missense_E112G exm897317 11 27114730 [T/G] NM_003986 BBOX1 EXON Missense_G117V exm897318 11 27114743 [C/G] NM_003986 BBOX1 EXON Missense_Q121H exm897326 11 27137000 [T/C] NM_003986 BBOX1 EXON Missense_H179Y exm897340 11 27147227 [A/G] NM_003986 BBOX1 EXON Missense_R288H exm897356 11 27148885 [A/G] NM_003986 BBOX1 EXON Missense_R350H exm897357 11 27148911 [A/T] NM_003986 BBOX1 EXON Missense_S359T exm897358 11 27148966 [G/C] NM_003986 BBOX1 EXON Missense_R377P exm2267163 11 27316394 [A/G] exm897365 11 27360457 [T/C] NM_030771 CCDC34 EXON Missense_I345V exm897366 11 27360535 [T/C] NM_030771 CCDC34 EXON Missense_I319V exm897368 11 27362257 [T/C] NM_030771 CCDC34 EXON Missense_N298S exm897371 11 27362354 [A/G] NM_030771 CCDC34 EXON Nonsense_Q266X exm897372 11 27362359 [T/G] NM_030771 CCDC34 EXON Missense_E264A exm897376 11 27363005 [T/A] NM_030771 CCDC34 EXON Missense_K233N exm897381 11 27371856 [T/C] NM_030771,NM_080654 CCDC34,CCDC34 EXON Silent,Missense_H210R exm897383 11 27371911 [T/G] NM_030771,NM_080654 CCDC34,CCDC34 EXON Missense_H192N,Missense_H192N exm897390 11 27379026 [T/C] NM_030771,NM_080654 CCDC34,CCDC34 EXON Missense_R141H,Missense_R141H exm897391 11 27379060 [T/C] NM_030771,NM_080654 CCDC34,CCDC34 EXON Missense_E130K,Missense_E130K exm897394 11 27384396 [T/G] NM_030771,NM_080654 CCDC34,CCDC34 EXON Missense_Q116K,Missense_Q116K exm897395 11 27384401 [T/C] NM_030771,NM_080654 CCDC34,CCDC34 EXON Missense_E114G,Missense_E114G exm897398 11 27384429 [T/C] NM_030771,NM_080654 CCDC34,CCDC34 EXON Missense_A105T,Missense_A105T exm897400 11 27384466 [T/A] NM_030771,NM_080654 CCDC34,CCDC34 EXON Missense_D92E,Missense_D92E exm897407 11 27384585 [A/G] NM_030771,NM_080654 CCDC34,CCDC34 EXON Missense_P53S,Missense_P53S exm897408 11 27384645 [A/G] NM_030771,NM_080654 CCDC34,CCDC34 EXON Missense_C33R,Missense_C33R exm897413 11 27384725 [A/C] NM_030771,NM_080654 CCDC34,CCDC34 EXON Missense_R6L,Missense_R6L exm897418 11 27389449 [T/G] NM_018490 LGR4 EXON Missense_R941S exm897426 11 27389739 [T/C] NM_018490 LGR4 EXON Missense_D844G exm897432 11 27389898 [T/G] NM_018490 LGR4 EXON Missense_P791Q exm1707044 11 27390022 [T/C] NM_018490 LGR4 EXON Missense_A750T exm897442 11 27390144 [A/G] NM_018490 LGR4 EXON Missense_T709M exm897448 11 27390220 [T/C] NM_018490 LGR4 EXON Missense_R684G exm897455 11 27390346 [T/C] NM_018490 LGR4 EXON Missense_E642K exm897465 11 27390645 [T/C] NM_018490 LGR4 EXON Missense_R542H exm897469 11 27393886 [A/G] NM_018490 LGR4 EXON Missense_A480V exm897484 11 27398727 [A/C] NM_018490 LGR4 EXON Missense_G363C exm897487 11 27400308 [T/C] NM_018490 LGR4 EXON Missense_T327A exm897512 11 27406950 [T/C] NM_018490 LGR4 EXON Missense_R156Q exm2271594 11 27487992 [T/C] NM_018490 LGR4 Silent exm897532 11 27520276 [A/G] NM_018362 LIN7C EXON Nonsense_R172X exm897541 11 27523055 [T/A] NM_018362 LIN7C EXON Missense_N72I exm897547 11 27528278 [T/C] NM_018362 LIN7C EXON Missense_V8M exm-rs988712 11 27563382 [T/G] NR_002832,NR_033315,NR_033313,NR_033314,NR_033312 BDNF-AS,BDNF-AS,BDNF-AS,BDNF-AS,BDNF-AS Silent,Silent,Silent,Silent,Silent exm-rs7481311 11 27583129 [T/C] NR_002832,NR_033315,NR_033313,NR_033314,NR_033312 BDNF-AS,BDNF-AS,BDNF-AS,BDNF-AS,BDNF-AS Silent,Silent,Silent,Silent,Silent exm2264417 11 27635319 [A/C] NR_002832,NR_033315,NR_033313,NR_033314,NR_033312 BDNF-AS,BDNF-AS,BDNF-AS,BDNF-AS,BDNF-AS Silent,Silent,Silent,Silent,Silent exm-rs925946 11 27667202 [T/G] NR_002832,NR_033315,NR_033313,NR_033314,NR_033312 BDNF-AS,BDNF-AS,BDNF-AS,BDNF-AS,BDNF-AS Silent,Silent,Silent,Silent,Silent exm897559 11 27679649 [T/A] NR_002832,NR_033315,NR_033313,NR_033314,NR_033312,NM_170733,NM_170732,NM_001143811,NM_001143810,NM_001143816,NM_001143809,NM_001143806,NM_001143812,NM_001143814,NM_170731,NM_001709,NM_001143805,NM_001143813,NM_170734,NM_001143807,NM_001143808,NM_170735 BDNF-AS,BDNF-AS,BDNF-AS,BDNF-AS,BDNF-AS,BDNF,BDNF,BDNF,BDNF,BDNF,BDNF,BDNF,BDNF,BDNF,BDNF,BDNF,BDNF,BDNF,BDNF,BDNF,BDNF,BDNF EXON Silent,Silent,Silent,Silent,Silent,Missense_T155S,Missense_T155S,Missense_T155S,Missense_T237S,Missense_T155S,Missense_T184S,Missense_T155S,Missense_T155S,Missense_T155S,Missense_T163S,Missense_T155S,Missense_T155S,Missense_T155S,Missense_T170S,Missense_T155S,Missense_T155S,Missense_T155S exm897569 11 27679889 [C/G] NR_002832,NR_033315,NR_033313,NR_033314,NR_033312,NM_170733,NM_170732,NM_001143811,NM_001143810,NM_001143816,NM_001143809,NM_001143806,NM_001143812,NM_001143814,NM_170731,NM_001709,NM_001143805,NM_001143813,NM_170734,NM_001143807,NM_001143808,NM_170735 BDNF-AS,BDNF-AS,BDNF-AS,BDNF-AS,BDNF-AS,BDNF,BDNF,BDNF,BDNF,BDNF,BDNF,BDNF,BDNF,BDNF,BDNF,BDNF,BDNF,BDNF,BDNF,BDNF,BDNF,BDNF EXON Silent,Silent,Silent,Silent,Silent,Missense_Q75E,Missense_Q75E,Missense_Q75E,Missense_Q157E,Missense_Q75E,Missense_Q104E,Missense_Q75E,Missense_Q75E,Missense_Q75E,Missense_Q83E,Missense_Q75E,Missense_Q75E,Missense_Q75E,Missense_Q90E,Missense_Q75E,Missense_Q75E,Missense_Q75E exm897570 11 27679916 [T/C] NR_002832,NR_033315,NR_033313,NR_033314,NR_033312,NM_170733,NM_170732,NM_001143811,NM_001143810,NM_001143816,NM_001143809,NM_001143806,NM_001143812,NM_001143814,NM_170731,NM_001709,NM_001143805,NM_001143813,NM_170734,NM_001143807,NM_001143808,NM_170735 BDNF-AS,BDNF-AS,BDNF-AS,BDNF-AS,BDNF-AS,BDNF,BDNF,BDNF,BDNF,BDNF,BDNF,BDNF,BDNF,BDNF,BDNF,BDNF,BDNF,BDNF,BDNF,BDNF,BDNF,BDNF EXON Silent,Silent,Silent,Silent,Silent,Missense_V66M,Missense_V66M,Missense_V66M,Missense_V148M,Missense_V66M,Missense_V95M,Missense_V66M,Missense_V66M,Missense_V66M,Missense_V74M,Missense_V66M,Missense_V66M,Missense_V66M,Missense_V81M,Missense_V66M,Missense_V66M,Missense_V66M exm897574 11 27680107 [A/G] NR_002832,NR_033315,NR_033313,NR_033314,NR_033312,NM_170733,NM_170732,NM_001143811,NM_001143810,NM_001143816,NM_001143809,NM_001143806,NM_001143812,NM_001143814,NM_170731,NM_001709,NM_001143805,NM_001143813,NM_170734,NM_001143807,NM_001143808,NM_170735 BDNF-AS,BDNF-AS,BDNF-AS,BDNF-AS,BDNF-AS,BDNF,BDNF,BDNF,BDNF,BDNF,BDNF,BDNF,BDNF,BDNF,BDNF,BDNF,BDNF,BDNF,BDNF,BDNF,BDNF,BDNF EXON Silent,Silent,Silent,Silent,Silent,Missense_T2I,Missense_T2I,Missense_T2I,Missense_T84I,Missense_T2I,Missense_T31I,Missense_T2I,Missense_T2I,Missense_T2I,Missense_T10I,Missense_T2I,Missense_T2I,Missense_T2I,Missense_T17I,Missense_T2I,Missense_T2I,Missense_T2I exm897586 11 27720937 [T/C] NM_170733,NM_170732,NM_001143811,NM_001143810,NM_001143809,NM_001143806,NM_001143812,NM_001143814,NM_170731,NM_001709,NM_001143805,NM_001143813,NM_170734,NM_001143807,NM_001143808 BDNF,BDNF,BDNF,BDNF,BDNF,BDNF,BDNF,BDNF,BDNF,BDNF,BDNF,BDNF,BDNF,BDNF,BDNF EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_E6K,Silent,Silent exm-rs10767664 11 27725986 [A/T] NM_170732,NM_001143806,NM_170731,NM_001143805,NM_001143807 BDNF,BDNF,BDNF,BDNF,BDNF Silent,Silent,Silent,Silent,Silent exm897594 11 28042799 [A/G] NM_031217 KIF18A EXON Missense_P882L exm897598 11 28045363 [T/G] NM_031217 KIF18A EXON Missense_N847H exm897603 11 28045398 [T/C] NM_031217 KIF18A Silent exm897608 11 28056955 [T/C] NM_031217 KIF18A EXON Missense_K828R exm897611 11 28057897 [A/G] NM_031217 KIF18A EXON Missense_H755Y exm897613 11 28057957 [T/C] NM_031217 KIF18A EXON Missense_I735V exm897614 11 28057992 [A/G] NM_031217 KIF18A EXON Missense_M723T exm897616 11 28058010 [A/G] NM_031217 KIF18A EXON Missense_P717L exm897618 11 28058043 [A/G] NM_031217 KIF18A EXON Missense_T706I exm897636 11 28080640 [T/C] NM_031217 KIF18A EXON Missense_N594S exm897664 11 28106202 [A/G] NM_031217 KIF18A EXON Missense_R351W exm897665 11 28106253 [A/G] NM_031217 KIF18A EXON Missense_P334S exm897674 11 28110151 [T/C] NM_031217 KIF18A EXON Missense_T273A exm897683 11 28116267 [T/C] NM_031217 KIF18A EXON Missense_T136A exm897688 11 28116342 [A/C] NM_031217 KIF18A EXON Missense_A111S exm897695 11 28119309 [T/G] NM_031217 KIF18A EXON Missense_Q62H exm897696 11 28119403 [T/C] NM_031217 KIF18A EXON Missense_H31R exm2264418 11 28129982 [A/C] NM_001113528,NM_152636 METTL15,METTL15 EXON Silent,Silent exm1707237 11 28232708 [C/G] NM_001113528,NM_152636 METTL15,METTL15 EXON Missense_A124P,Missense_A124P exm2259760 11 28269884 [A/G] NM_001113528,NM_152636 METTL15,METTL15 Silent,Silent exm897717 11 28311769 [A/G] NM_001113528,NM_152636 METTL15,METTL15 EXON Missense_M142V,Missense_M142V exm897719 11 28311790 [A/G] NM_001113528,NM_152636 METTL15,METTL15 EXON Missense_A149T,Missense_A149T exm897725 11 28318319 [A/G] NM_001113528,NM_152636 METTL15,METTL15 EXON Missense_A207T,Missense_A207T exm2267260 11 28828762 [A/G] exm-rs1602565 11 29162136 [T/C] exm2259763 11 29598857 [T/C] exm2271480 11 29680576 [T/C] exm-rs2993051 11 29994465 [T/C] exm897751 11 30032307 [T/C] NM_002233 KCNA4 EXON Missense_K640R exm897753 11 30032402 [G/C] NM_002233 KCNA4 EXON Missense_K608N exm897764 11 30032623 [A/C] NM_002233 KCNA4 EXON Missense_V535L exm897794 11 30033939 [T/C] NM_002233 KCNA4 EXON Missense_H96R exm897807 11 30253508 [T/G] NM_000510,NM_001018080 FSHB,FSHB EXON Missense_S20I,Missense_S20I exm897809 11 30253580 [G/C] NM_000510,NM_001018080 FSHB,FSHB EXON Missense_T44S,Missense_T44S exm897820 11 30255284 [A/C] NM_000510,NM_001018080 FSHB,FSHB EXON Missense_S109R,Missense_S109R exm897822 11 30255301 [A/G] NM_000510,NM_001018080 FSHB,FSHB EXON Missense_R115Q,Missense_R115Q exm897829 11 30352557 [A/T] NM_152316 ARL14EP EXON Missense_Y21F exm897842 11 30354524 [A/C] NM_152316 ARL14EP EXON Missense_T180P exm897849 11 30358244 [A/G] NM_152316 ARL14EP EXON Missense_T229A exm2249797 11 30394734 [A/G] exm897867 11 30516885 [A/G] NM_001145399,NM_001584 MPPED2,MPPED2 EXON Missense_S165L,Missense_S165L exm2271596 11 30709418 [T/C] exm-rs3925584 11 30760335 [T/C] exm2271481 11 30878849 [T/C] exm897908 11 30900214 [A/G] NM_020869 DCDC5 EXON Nonsense_R864X exm897914 11 30902755 [T/C] NM_020869 DCDC5 EXON Missense_R832Q exm897918 11 30902837 [A/G] NM_020869 DCDC5 EXON Missense_S805P exm897919 11 30902856 [G/C] NM_020869 DCDC5 Silent exm897933 11 30915919 [A/G] NM_020869 DCDC5 EXON Missense_A697V exm897939 11 30921152 [C/G] NM_020869 DCDC5 EXON Missense_W671C exm897940 11 30921166 [T/C] NM_020869 DCDC5 EXON Missense_E667K exm897945 11 30925058 [T/C] NM_020869 DCDC5 EXON Missense_K601R exm897957 11 30925205 [A/G] NM_020869 DCDC5 EXON Missense_L552P exm897961 11 30926525 [T/C] NM_020869 DCDC5 EXON Missense_A538T exm897970 11 30926660 [A/G] NM_020869 DCDC5 EXON Missense_R493C exm2218472 11 30928226 [T/C] NM_020869 DCDC5 EXON Missense_C429Y exm897980 11 30928272 [A/C] NM_020869 DCDC5 EXON Nonsense_G414X exm897985 11 30932903 [T/C] NM_020869 DCDC5 EXON Missense_E347K exm897992 11 30937105 [A/C] NM_020869 DCDC5 EXON Missense_K309N exm898000 11 30938459 [T/C] NM_020869 DCDC5 EXON Missense_E244G exm898002 11 30938486 [T/C] NM_020869 DCDC5 EXON Missense_E235G exm898008 11 30942438 [A/G] NM_020869 DCDC5 EXON Missense_L167F exm898017 11 30946907 [T/A] NM_020869 DCDC5 EXON Missense_N89K exm898020 11 30953321 [A/G] NM_020869 DCDC5 EXON Missense_T72M exm898021 11 30953325 [T/G] NM_020869 DCDC5 EXON Missense_K71Q exm898022 11 30953328 [A/G] NM_020869 DCDC5 EXON Missense_R70W exm898024 11 30953348 [A/C] NM_020869 DCDC5 EXON Missense_G63V exm898027 11 30953418 [A/G] NM_020869 DCDC5 EXON Missense_Y40H exm898035 11 30974115 [A/C] NM_020869 DCDC5 EXON Silent exm2264446 11 31037514 [A/C] exm-rs16921914 11 31210771 [A/G] exm1707821 11 31284619 [T/C] NM_181807 DCDC1 EXON Synonymous_G352G exm898086 11 31312217 [T/C] NM_181807 DCDC1 EXON Missense_V313M exm898091 11 31312300 [T/C] NM_181807 DCDC1 EXON Missense_R285K exm898093 11 31312325 [T/C] NM_181807 DCDC1 EXON Missense_K277E exm898094 11 31312328 [A/G] NM_181807 DCDC1 EXON Missense_R276W exm898099 11 31327200 [A/G] NM_181807 DCDC1 EXON Missense_T239M exm1707835 11 31327934 [A/C] NM_181807 DCDC1 EXON Missense_V146F exm898121 11 31329373 [T/C] NM_181807 DCDC1 EXON Missense_V83M exm898123 11 31329415 [T/C] NM_181807 DCDC1 EXON Missense_T69A exm898127 11 31349808 [T/C] NM_181807 DCDC1 EXON Missense_E7G exm898130 11 31392362 [A/G] NM_181706 DNAJC24 EXON Missense_N23D exm898139 11 31447864 [A/G] NM_181706 DNAJC24 EXON Missense_D94G exm898150 11 31455093 [G/C] NM_144981 IMMP1L EXON Missense_E116Q exm898153 11 31477905 [T/C] NM_144981 IMMP1L EXON Missense_S75G exm898161 11 31484736 [T/C] NM_144981 IMMP1L EXON Missense_V30I exm898185 11 31541617 [A/G] NM_019040 ELP4 EXON Missense_V80I exm898192 11 31561287 [T/C] NM_019040 ELP4 EXON Missense_L113S exm2271482 11 31609964 [T/C] NM_019040 ELP4 Silent exm898197 11 31625373 [A/C] NM_019040 ELP4 EXON Missense_P191Q exm898200 11 31648679 [A/G] NM_019040 ELP4 EXON Missense_K226E exm898206 11 31653923 [A/C] NM_019040 ELP4 EXON Missense_I300L exm898214 11 31671677 [T/C] NM_019040 ELP4 EXON Missense_R351W exm898215 11 31671678 [A/G] NM_019040 ELP4 EXON Missense_R351Q exm898225 11 31804978 [C/G] NM_019040 ELP4 EXON Missense_S394T exm898226 11 31804981 [A/G] NM_019040 ELP4 EXON Missense_R395H exm898228 11 31805014 [A/G] NM_019040 ELP4 EXON Missense_K406R exm898229 11 31805017 [T/G] NM_019040 ELP4 EXON Missense_R407L exm898230 11 31805038 [T/C] NM_019040 ELP4 EXON Missense_M414T exm898255 11 31815201 [T/C] NM_001604,NM_001258463,NM_001258462,NM_001258464,NM_001127612,NM_001258465,NM_000280 PAX6,PAX6,PAX6,PAX6,PAX6,PAX6,PAX6 EXON Synonymous_P319P,Synonymous_P319P,Synonymous_P319P,Synonymous_P305P,Synonymous_P305P,Synonymous_P305P,Synonymous_P305P exm2271597 11 32087108 [T/C] exm898310 11 32119904 [A/G] NM_002901 RCN1 EXON Missense_A153T exm898314 11 32122121 [A/G] NM_002901 RCN1 EXON Missense_G219R exm898323 11 32125930 [A/C] NM_002901 RCN1 EXON Missense_E303A exm2264419 11 32405355 [A/C] exm898364 11 32449564 [C/G] NM_000378,NM_001198551,NM_024424,NM_024426,NM_001198552 WT1,WT1,WT1,WT1,WT1 EXON Missense_C270W,Missense_C58W,Missense_C270W,Missense_C270W,Missense_C58W exm898367 11 32450067 [A/G] NM_000378,NM_001198551,NM_024424,NM_024426,NM_001198552 WT1,WT1,WT1,WT1,WT1 EXON Missense_P249S,Missense_P37S,Missense_P249S,Missense_P249S,Missense_P37S exm-rs10767942 11 32522007 [T/C] exm898433 11 32610617 [T/G] NM_006360 EIF3M EXON Missense_C125F exm898474 11 32624547 [A/T] NM_001008391 CCDC73 EXON Missense_I1017K exm898477 11 32632739 [G/C] NM_001008391 CCDC73 EXON Missense_P990R exm898478 11 32632749 [T/G] NM_001008391 CCDC73 EXON Missense_K987Q exm898485 11 32635078 [A/G] NM_001008391 CCDC73 EXON Missense_S929F exm898486 11 32635079 [A/C] NM_001008391 CCDC73 EXON Missense_S929A exm898489 11 32635096 [A/C] NM_001008391 CCDC73 EXON Missense_S923I exm2218485 11 32635111 [T/C] NM_001008391 CCDC73 EXON Missense_S918N exm2218486 11 32635196 [T/C] NM_001008391 CCDC73 EXON Missense_T890A exm898495 11 32635220 [T/C] NM_001008391 CCDC73 EXON Missense_G882R exm898497 11 32635270 [T/G] NM_001008391 CCDC73 EXON Missense_E865A exm898505 11 32635609 [A/G] NM_001008391 CCDC73 EXON Missense_M752T exm898524 11 32636356 [A/G] NM_001008391 CCDC73 EXON Missense_S503L exm898525 11 32636387 [C/G] NM_001008391 CCDC73 EXON Missense_D493H exm898533 11 32637531 [T/C] NM_001008391 CCDC73 EXON Missense_E444K exm898536 11 32637615 [T/C] NM_001008391 CCDC73 EXON Missense_I416V exm898556 11 32674757 [A/G] NM_001008391 CCDC73 EXON Missense_F284S exm898559 11 32676416 [T/G] NM_001008391 CCDC73 EXON Missense_Q250K exm898564 11 32697125 [A/G] NM_001008391 CCDC73 EXON Missense_C211R exm898582 11 32781689 [A/G] NM_001008391 CCDC73 EXON Missense_L34S exm898585 11 32781773 [T/C] NM_001008391 CCDC73 EXON Missense_N6S exm898591 11 32852167 [T/C] NM_024081 PRRG4 EXON Missense_A31V exm898592 11 32852172 [A/G] NM_024081 PRRG4 EXON Missense_E33K exm898600 11 32858318 [T/C] NM_024081 PRRG4 EXON Missense_L73P exm898609 11 32861784 [T/C] NM_024081 PRRG4 EXON Missense_C150R exm898611 11 32874843 [T/A] NM_024081 PRRG4 EXON Missense_S151T exm898612 11 32874844 [A/C] NM_024081 PRRG4 EXON Missense_S151Y exm898614 11 32874876 [C/G] NM_024081 PRRG4 EXON Missense_P162A exm898617 11 32874919 [A/C] NM_024081 PRRG4 EXON Missense_P176Q exm898618 11 32874926 [A/G] NM_024081 PRRG4 EXON Synonymous_P178P exm898627 11 32875053 [A/G] NM_024081 PRRG4 EXON Missense_M221V exm-rs10767971 11 32895664 [T/C] exm2271483 11 32903263 [T/C] exm1708063 11 32953516 [A/G] NM_001076786 QSER1 EXON Missense_V109I exm898637 11 32953519 [A/C] NM_001076786 QSER1 EXON Missense_P110T exm898647 11 32953832 [G/C] NM_001076786 QSER1 EXON Missense_S214T exm898664 11 32954344 [A/G] NM_001076786 QSER1 EXON Missense_V385I exm898676 11 32954693 [A/C] NM_001076786 QSER1 EXON Missense_N501T exm898689 11 32955095 [T/G] NM_001076786 QSER1 EXON Missense_V635G exm898690 11 32955122 [A/G] NM_001076786 QSER1 EXON Missense_Q644R exm898697 11 32955286 [A/G] NM_001076786 QSER1 EXON Missense_I699V exm898703 11 32955421 [A/G] NM_001076786 QSER1 EXON Missense_G744S exm898711 11 32955882 [G/C] NM_001076786 QSER1 EXON Missense_R897S exm898717 11 32956006 [A/G] NM_001076786 QSER1 EXON Missense_K939E exm898721 11 32956127 [A/G] NM_001076786 QSER1 EXON Missense_K979R exm898728 11 32956244 [A/G] NM_001076786 QSER1 EXON Missense_N1018S exm898730 11 32956260 [T/A] NM_001076786 QSER1 EXON Missense_S1023R exm898731 11 32956274 [T/G] NM_001076786 QSER1 EXON Missense_G1028V exm898735 11 32956357 [A/G] NM_001076786 QSER1 EXON Missense_S1056G exm898737 11 32956363 [A/C] NM_001076786 QSER1 EXON Missense_K1058Q exm898739 11 32956412 [A/G] NM_001076786 QSER1 EXON Missense_K1074R exm898741 11 32956492 [T/C] NM_001076786 QSER1 EXON Missense_R1101C exm898742 11 32956517 [T/C] NM_001076786 QSER1 EXON Missense_I1109T exm898747 11 32956801 [C/G] NM_001076786 QSER1 EXON Missense_V1204L exm898754 11 32975439 [A/G] NM_001076786 QSER1 EXON Missense_N1276S exm898761 11 32975622 [T/C] NM_001076786 QSER1 EXON Missense_I1337T exm898764 11 32975718 [A/C] NM_001076786 QSER1 EXON Missense_T1369N exm898765 11 32976929 [T/G] NM_001076786 QSER1 EXON Missense_G1401C exm898785 11 32987860 [A/G] NM_001076786 QSER1 EXON Missense_A1533T exm898806 11 33047270 [T/C] NM_001077242,NM_139160 DEPDC7,DEPDC7 EXON Nonsense_Q47X,Nonsense_Q38X exm898809 11 33047313 [A/G] NM_001077242,NM_139160 DEPDC7,DEPDC7 EXON Missense_R61Q,Missense_R52Q exm898818 11 33049341 [A/G] NM_001077242,NM_139160 DEPDC7,DEPDC7 EXON Missense_A192T,Missense_A183T exm898822 11 33050185 [A/G] NM_001077242,NM_139160 DEPDC7,DEPDC7 EXON Missense_R210H,Missense_R201H exm898826 11 33050268 [A/G] NM_001077242,NM_139160 DEPDC7,DEPDC7 EXON Missense_R238G,Missense_R229G exm898832 11 33052990 [T/A] NM_001077242,NM_139160 DEPDC7,DEPDC7 EXON Missense_E283D,Missense_E274D exm898835 11 33053036 [A/G] NM_001077242,NM_139160 DEPDC7,DEPDC7 EXON Missense_K299E,Missense_K290E exm898851 11 33054503 [T/G] NM_001077242,NM_139160 DEPDC7,DEPDC7 EXON Missense_N444K,Missense_N435K exm898854 11 33054837 [T/C] NM_001077242,NM_139160 DEPDC7,DEPDC7 EXON Missense_R458C,Missense_R449C exm898856 11 33054856 [T/C] NM_001077242,NM_139160 DEPDC7,DEPDC7 EXON Missense_T464I,Missense_T455I exm898858 11 33054958 [A/G] NM_001077242,NM_139160 DEPDC7,DEPDC7 EXON Missense_Y498C,Missense_Y489C exm-rs1064005 11 33065394 [T/C] NM_018393,NM_001145541 TCP11L1,TCP11L1 EXON Synonymous_L25L,Synonymous_L25L exm898862 11 33065395 [A/G] NM_018393,NM_001145541 TCP11L1,TCP11L1 EXON Missense_E26K,Missense_E26K exm898866 11 33065479 [A/C] NM_018393,NM_001145541 TCP11L1,TCP11L1 EXON Missense_H54N,Missense_H54N exm898871 11 33076240 [A/C] NM_018393,NM_001145541 TCP11L1,TCP11L1 EXON Missense_Q89K,Missense_Q89K exm898878 11 33079580 [A/G] NM_018393,NM_001145541 TCP11L1,TCP11L1 EXON Missense_K178R,Missense_K178R exm898888 11 33080610 [T/G] NM_018393,NM_001145541 TCP11L1,TCP11L1 EXON Missense_K248N,Missense_K248N exm898898 11 33087445 [T/G] NM_018393,NM_001145541 TCP11L1,TCP11L1 EXON Missense_A348S,Missense_A348S exm898899 11 33087499 [A/G] NM_018393,NM_001145541 TCP11L1,TCP11L1 EXON Missense_D366N,Missense_D366N exm898900 11 33087525 [T/G] NM_018393,NM_001145541 TCP11L1,TCP11L1 EXON Missense_I374M,Missense_I374M exm898903 11 33087551 [A/C] NM_018393,NM_001145541 TCP11L1,TCP11L1 EXON Missense_H383P,Missense_H383P exm898912 11 33094021 [A/G] NM_018393,NM_001145541 TCP11L1,TCP11L1 EXON Synonymous_E443E,Synonymous_E443E exm898913 11 33094059 [T/C] NM_018393,NM_001145541 TCP11L1,TCP11L1 EXON Missense_S456L,Missense_S456L exm898918 11 33094215 [A/G] NM_018393,NM_001145541 TCP11L1,TCP11L1 EXON Missense_R508Q,Missense_R508Q exm-rs1028564 11 33162009 [A/G] NM_001326 CSTF3 Silent exm898975 11 33308079 [A/G] NM_001048200,NM_005734 HIPK3,HIPK3 EXON Missense_Y40C,Missense_Y40C exm898976 11 33308084 [T/C] NM_001048200,NM_005734 HIPK3,HIPK3 EXON Missense_R42W,Missense_R42W exm898983 11 33308202 [A/G] NM_001048200,NM_005734 HIPK3,HIPK3 EXON Missense_S81N,Missense_S81N exm898987 11 33308289 [A/G] NM_001048200,NM_005734 HIPK3,HIPK3 EXON Missense_G110E,Missense_G110E exm898994 11 33308469 [A/G] NM_001048200,NM_005734 HIPK3,HIPK3 EXON Missense_G170E,Missense_G170E exm898995 11 33308513 [A/G] NM_001048200,NM_005734 HIPK3,HIPK3 EXON Missense_V185I,Missense_V185I exm1708175 11 33308772 [C/G] NM_001048200,NM_005734 HIPK3,HIPK3 EXON Missense_T271S,Missense_T271S exm899008 11 33308963 [T/C] NM_001048200,NM_005734 HIPK3,HIPK3 EXON Missense_R335W,Missense_R335W exm899011 11 33309032 [A/C] NM_001048200,NM_005734 HIPK3,HIPK3 EXON Missense_T358P,Missense_T358P exm899018 11 33358684 [A/T] NM_001048200,NM_005734 HIPK3,HIPK3 EXON Missense_S429T,Missense_S429T exm899020 11 33360381 [A/G] NM_001048200,NM_005734 HIPK3,HIPK3 EXON Missense_V474I,Missense_V474I exm899026 11 33360966 [A/G] NM_001048200,NM_005734 HIPK3,HIPK3 EXON Missense_S500N,Missense_S500N exm899031 11 33362656 [A/G] NM_001048200,NM_005734 HIPK3,HIPK3 EXON Missense_G586R,Missense_G586R exm899038 11 33368890 [A/G] NM_001048200,NM_005734 HIPK3,HIPK3 EXON Missense_N650S,Missense_N650S exm1708188 11 33369229 [T/C] NM_001048200,NM_005734 HIPK3,HIPK3 EXON Missense_P692S,Missense_P692S exm899047 11 33369445 [G/C] NM_001048200,NM_005734 HIPK3,HIPK3 EXON Missense_P731R,Missense_P731R exm899052 11 33369553 [T/A] NM_001048200,NM_005734 HIPK3,HIPK3 EXON Missense_Q767L,Missense_Q767L exm899070 11 33370259 [A/G] NM_001048200,NM_005734 HIPK3,HIPK3 EXON Missense_R833Q,Missense_R854Q exm899080 11 33370824 [T/G] NM_001048200,NM_005734 HIPK3,HIPK3 EXON Missense_R912I,Missense_R933I exm899085 11 33373216 [T/C] NM_001048200,NM_005734 HIPK3,HIPK3 EXON Missense_S936F,Missense_S957F exm899094 11 33373368 [A/G] NM_001048200,NM_005734 HIPK3,HIPK3 EXON Missense_D987N,Missense_D1008N exm899096 11 33373689 [A/G] NM_001048200,NM_005734 HIPK3,HIPK3 EXON Missense_I996V,Missense_I1017V exm899098 11 33374639 [T/C] NM_001048200,NM_005734 HIPK3,HIPK3 EXON Missense_V1037A,Missense_V1058A exm899104 11 33374759 [A/G] NM_001048200,NM_005734 HIPK3,HIPK3 EXON Missense_N1077S,Missense_N1098S exm899112 11 33375022 [A/G] NM_001048200,NM_005734 HIPK3,HIPK3 EXON Missense_I1165V,Missense_I1186V exm899113 11 33375034 [G/C] NM_001048200,NM_005734 HIPK3,HIPK3 EXON Missense_H1169D,Missense_H1190D exm899121 11 33564038 [T/C] NM_012194 KIAA1549L EXON Missense_I13T exm899128 11 33564222 [C/G] NM_012194 KIAA1549L EXON Missense_S74R exm899131 11 33564350 [A/G] NM_012194 KIAA1549L EXON Missense_H117R exm899134 11 33564497 [T/C] NM_012194 KIAA1549L EXON Missense_S166L exm899135 11 33564508 [A/G] NM_012194 KIAA1549L EXON Missense_T170A exm899140 11 33564565 [T/C] NM_012194 KIAA1549L EXON Missense_L189F exm899147 11 33564927 [A/T] NM_012194 KIAA1549L EXON Missense_S309R exm899150 11 33564959 [T/C] NM_012194 KIAA1549L EXON Missense_T320M exm899152 11 33564982 [T/C] NM_012194 KIAA1549L EXON Missense_P328S exm899160 11 33565178 [T/C] NM_012194 KIAA1549L EXON Missense_P393L exm899169 11 33565450 [A/G] NM_012194 KIAA1549L EXON Missense_T484A exm899171 11 33565520 [G/C] NM_012194 KIAA1549L EXON Missense_T507R exm899179 11 33565853 [A/G] NM_012194 KIAA1549L EXON Missense_R618Q exm899181 11 33566313 [T/C] NM_012194 KIAA1549L EXON Missense_A628V exm2249806 11 33566356 [T/C] NM_012194 KIAA1549L EXON Synonymous_A642A exm899187 11 33566430 [A/G] NM_012194 KIAA1549L EXON Missense_S667N exm899192 11 33566484 [A/C] NM_012194 KIAA1549L EXON Missense_A685D exm899193 11 33566507 [A/G] NM_012194 KIAA1549L EXON Missense_A693T exm899202 11 33566681 [A/G] NM_012194 KIAA1549L EXON Missense_M751V exm899203 11 33566699 [A/G] NM_012194 KIAA1549L EXON Missense_N757D exm899211 11 33566759 [A/G] NM_012194 KIAA1549L EXON Missense_A777T exm899214 11 33566847 [T/C] NM_012194 KIAA1549L EXON Missense_S806L exm899224 11 33572769 [A/G] NM_012194 KIAA1549L EXON Missense_N932D exm2271484 11 33578510 [T/C] NM_012194 KIAA1549L Silent exm899233 11 33581359 [T/C] NM_012194 KIAA1549L EXON Missense_T1010I exm-rs10437629 11 33588210 [A/G] NM_012194 KIAA1549L Silent exm899253 11 33596398 [A/G] NM_012194 KIAA1549L EXON Missense_V1164I exm899256 11 33604885 [T/C] NM_012194 KIAA1549L EXON Synonymous_P1171P exm899267 11 33605028 [A/C] NM_012194 KIAA1549L EXON Missense_N1219T exm899280 11 33628193 [T/C] NM_012194 KIAA1549L EXON Missense_A1332V exm899284 11 33628306 [T/C] NM_012194 KIAA1549L EXON Missense_L1370F exm899300 11 33631448 [A/G] NM_012194 KIAA1549L EXON Missense_E1442K exm2267262 11 33636821 [A/G] NM_012194 KIAA1549L Silent exm2249807 11 33667333 [A/G] NM_012194 KIAA1549L EXON Synonymous_T1540T exm899315 11 33667424 [A/G] NM_012194 KIAA1549L EXON Missense_G1571S exm899332 11 33677625 [A/C] NM_012194 KIAA1549L EXON Missense_T1646N exm899335 11 33680333 [A/G] NM_012194 KIAA1549L EXON Missense_E1669K exm899340 11 33680387 [T/A] NM_012194 KIAA1549L EXON Missense_M1687L exm899356 11 33682547 [A/G] NM_012194 KIAA1549L EXON Missense_Q1752R exm899358 11 33682560 [A/G] NM_012194 KIAA1549L EXON Synonymous_S1756S exm2218499 11 33689540 [T/C] NM_012194 KIAA1549L EXON Missense_P1797L exm899366 11 33689555 [T/C] NM_012194 KIAA1549L EXON Missense_A1802V exm899395 11 33731888 [T/C] NM_001127226,NM_001127225,NM_203330,NM_001127227,NM_001127223,NM_000611,NM_203329,NM_203331 CD59,CD59,CD59,CD59,CD59,CD59,CD59,CD59 EXON Synonymous_G57G,Synonymous_G57G,Synonymous_G57G,Synonymous_G57G,Synonymous_G57G,Synonymous_G57G,Synonymous_G57G,Synonymous_G57G exm899400 11 33739011 [G/C] NM_001127226,NM_001127225,NM_203330,NM_001127227,NM_001127223,NM_000611,NM_203329,NM_203331 CD59,CD59,CD59,CD59,CD59,CD59,CD59,CD59 EXON Missense_S25T,Missense_S25T,Missense_S25T,Missense_S25T,Missense_S25T,Missense_S25T,Missense_S25T,Missense_S25T exm899404 11 33743938 [A/G] NM_001127226,NM_001127225,NM_203330,NM_001127227,NM_001127223,NM_000611,NM_203329,NM_203331 CD59,CD59,CD59,CD59,CD59,CD59,CD59,CD59 EXON Synonymous_V18V,Synonymous_V18V,Synonymous_V18V,Synonymous_V18V,Synonymous_V18V,Synonymous_V18V,Synonymous_V18V,Synonymous_V18V exm2249809 11 33743938 [A/G] NM_001127226,NM_001127225,NM_203330,NM_001127227,NM_001127223,NM_000611,NM_203329,NM_203331 CD59,CD59,CD59,CD59,CD59,CD59,CD59,CD59 EXON Synonymous_V18V,Synonymous_V18V,Synonymous_V18V,Synonymous_V18V,Synonymous_V18V,Synonymous_V18V,Synonymous_V18V,Synonymous_V18V exm899413 11 33763476 [T/C] NM_012175 FBXO3 EXON Missense_R465H exm899425 11 33768716 [T/C] NM_012175,NM_033406 FBXO3,FBXO3 EXON Missense_H400R,Missense_H400R exm899435 11 33770353 [T/C] NM_012175,NM_033406 FBXO3,FBXO3 EXON Missense_V340M,Missense_V340M exm899437 11 33772102 [G/C] NM_012175,NM_033406 FBXO3,FBXO3 EXON Missense_F305L,Missense_F305L exm899440 11 33772191 [T/C] NM_012175,NM_033406 FBXO3,FBXO3 EXON Missense_E276K,Missense_E276K exm899453 11 33777334 [T/C] NM_012175,NM_033406 FBXO3,FBXO3 EXON Missense_V221I,Missense_V221I exm899454 11 33777371 [T/C] NM_012175,NM_033406 FBXO3,FBXO3 EXON Missense_I208M,Missense_I208M exm899467 11 33790481 [A/G] NM_012175,NM_033406 FBXO3,FBXO3 EXON Missense_H92Y,Missense_H92Y exm899481 11 33796034 [T/C] NM_012175,NM_033406 FBXO3,FBXO3 EXON Missense_M4V,Missense_M4V exm2249810 11 33881010 [A/G] NM_001142315,NM_001142316,NM_005574 LMO2,LMO2,LMO2 EXON Synonymous_A123A,Synonymous_A123A,Synonymous_A192A exm899492 11 33881043 [A/G] NM_001142315,NM_001142316,NM_005574 LMO2,LMO2,LMO2 EXON Synonymous_D112D,Synonymous_D112D,Synonymous_D181D exm2249811 11 33881043 [A/G] NM_001142315,NM_001142316,NM_005574 LMO2,LMO2,LMO2 EXON Synonymous_D112D,Synonymous_D112D,Synonymous_D181D exm899496 11 33886164 [A/G] NM_001142315,NM_001142316,NM_005574 LMO2,LMO2,LMO2 EXON Missense_R81W,Missense_R81W,Missense_R150W exm2249812 11 34032330 [T/C] exm899553 11 34110996 [T/C] NM_005898,NM_203364 CAPRIN1,CAPRIN1 EXON Missense_A429V,Missense_A429V exm899574 11 34118137 [A/G] NM_005898,NM_203364 CAPRIN1,CAPRIN1 EXON Missense_N606S,Missense_N606S exm1708352 11 34120886 [T/C] NM_005898 CAPRIN1 EXON Missense_P701L exm899582 11 34129779 [T/C] NM_001144030,NM_024662 NAT10,NAT10 EXON Silent,Missense_R3W exm899604 11 34135273 [G/C] NM_001144030,NM_024662 NAT10,NAT10 EXON Missense_A56G,Missense_A128G exm899619 11 34139840 [T/C] NM_001144030,NM_024662 NAT10,NAT10 EXON Missense_P152L,Missense_P224L exm899637 11 34145358 [G/C] NM_001144030,NM_024662 NAT10,NAT10 EXON Missense_L250V,Missense_L322V exm899654 11 34152464 [T/C] NM_001144030,NM_024662 NAT10,NAT10 EXON Missense_T378M,Missense_T450M exm899660 11 34152939 [T/C] NM_001144030,NM_024662 NAT10,NAT10 EXON Missense_Y389H,Missense_Y461H exm899661 11 34152973 [A/C] NM_001144030,NM_024662 NAT10,NAT10 EXON Missense_A400D,Missense_A472D exm899662 11 34153038 [T/C] NM_001144030,NM_024662 NAT10,NAT10 EXON Missense_R422W,Missense_R494W exm899667 11 34153739 [A/G] NM_001144030,NM_024662 NAT10,NAT10 EXON Missense_M458V,Missense_M530V exm899670 11 34153769 [A/G] NM_001144030,NM_024662 NAT10,NAT10 Silent,Silent exm899671 11 34154579 [T/C] NM_001144030,NM_024662 NAT10,NAT10 EXON Missense_P470S,Missense_P542S exm899672 11 34154583 [A/G] NM_001144030,NM_024662 NAT10,NAT10 EXON Missense_N471S,Missense_N543S exm2249813 11 34154650 [G/C] NM_001144030,NM_024662 NAT10,NAT10 EXON Synonymous_P493P,Synonymous_P565P exm899685 11 34156107 [A/C] NM_001144030,NM_024662 NAT10,NAT10 EXON Missense_I557L,Missense_I629L exm899688 11 34156722 [A/G] NM_001144030,NM_024662 NAT10,NAT10 EXON Missense_M566V,Missense_M638V exm899696 11 34158274 [A/G] NM_001144030,NM_024662 NAT10,NAT10 EXON Missense_R633H,Missense_R705H exm899705 11 34160778 [T/C] NM_001144030,NM_024662 NAT10,NAT10 EXON Missense_T679M,Missense_T751M exm899725 11 34162706 [T/C] NM_001144030,NM_024662 NAT10,NAT10 EXON Missense_S816L,Missense_S888L exm899729 11 34162747 [A/G] NM_001144030,NM_024662 NAT10,NAT10 EXON Missense_V830I,Missense_V902I exm899733 11 34163339 [T/C] NM_001144030,NM_024662 NAT10,NAT10 EXON Missense_T857M,Missense_T929M exm899747 11 34165044 [A/G] NM_001144030,NM_024662 NAT10,NAT10 EXON Missense_G908R,Missense_G980R exm899749 11 34165053 [A/G] NM_001144030,NM_024662 NAT10,NAT10 EXON Missense_A911T,Missense_A983T exm899750 11 34165057 [T/C] NM_001144030,NM_024662 NAT10,NAT10 EXON Missense_S912L,Missense_S984L exm1708432 11 34167709 [T/A] NM_001144030,NM_024662 NAT10,NAT10 EXON Missense_K944N,Missense_K1016N exm899756 11 34167728 [T/C] NM_001144030,NM_024662 NAT10,NAT10 EXON Missense_R951W,Missense_R1023W exm899767 11 34174032 [T/C] NM_145804 ABTB2 EXON Missense_G994S exm899768 11 34174046 [T/C] NM_145804 ABTB2 EXON Missense_R989Q exm899784 11 34176262 [T/C] NM_145804 ABTB2 EXON Missense_T918A exm899786 11 34180861 [T/C] NM_145804 ABTB2 EXON Missense_M893I exm1708437 11 34181538 [T/C] NM_145804 ABTB2 EXON Missense_N841D exm899800 11 34182457 [T/G] NM_145804 ABTB2 EXON Missense_T797N exm899801 11 34182476 [T/G] NM_145804 ABTB2 EXON Missense_M791L exm899839 11 34189501 [A/G] NM_145804 ABTB2 EXON Synonymous_D534D exm2249814 11 34189501 [A/G] NM_145804 ABTB2 EXON Synonymous_D534D exm899841 11 34189512 [T/C] NM_145804 ABTB2 EXON Missense_A531T exm899858 11 34194766 [T/C] NM_145804 ABTB2 EXON Missense_G445S exm899869 11 34218972 [T/C] NM_145804 ABTB2 EXON Missense_D382N exm899877 11 34219046 [T/C] NM_145804 ABTB2 EXON Missense_R357H exm899883 11 34226175 [G/C] NM_145804 ABTB2 EXON Missense_R316G exm899884 11 34226193 [A/C] NM_145804 ABTB2 EXON Missense_S310A exm-rs2420525 11 34297211 [A/G] NM_145804 ABTB2 Silent exm899898 11 34378381 [G/C] NM_145804 ABTB2 EXON Missense_H250Q exm899904 11 34378547 [A/C] NM_145804 ABTB2 EXON Missense_R195L exm2249815 11 34454147 [A/G] exm899907 11 34460472 [T/A] NM_001752 CAT EXON Silent exm899910 11 34460569 [C/G] NM_001752 CAT EXON Missense_D3E exm899919 11 34472619 [T/C] NM_001752 CAT EXON Missense_P108L exm899924 11 34474682 [A/C] NM_001752 CAT EXON Missense_L176M exm899925 11 34474705 [A/G] NM_001752 CAT EXON Nonsense_W183X exm899927 11 34474721 [T/C] NM_001752 CAT EXON Missense_R189C exm899929 11 34475369 [T/C] NM_001752 CAT EXON Missense_R203W exm899930 11 34475370 [A/G] NM_001752 CAT EXON Missense_R203Q exm899931 11 34475387 [T/C] NM_001752 CAT EXON Missense_H209Y exm899938 11 34477610 [A/G] NM_001752 CAT EXON Missense_Q255R exm899940 11 34477717 [A/G] NM_001752 CAT EXON Missense_T291A exm899943 11 34478218 [T/C] NM_001752 CAT EXON Missense_P304S exm899945 11 34478255 [T/C] NM_001752 CAT EXON Missense_L316P exm899946 11 34478267 [A/G] NM_001752 CAT EXON Missense_R320Q exm899948 11 34482825 [T/C] NM_001752 CAT EXON Missense_H362Y exm899955 11 34482910 [A/G] NM_001752 CAT EXON Missense_G390D exm899963 11 34489839 [A/G] NM_001752 CAT EXON Missense_R444Q exm899974 11 34492548 [T/C] NM_001752 CAT EXON Missense_I493T exm899981 11 34501832 [T/C] NM_198381,NM_001243081,NM_001243080,NM_001422 ELF5,ELF5,ELF5,ELF5 EXON Missense_R244Q,Missense_R166Q,Missense_R139Q,Missense_R234Q exm899986 11 34502409 [T/C] NM_198381,NM_001243081,NM_001243080,NM_001422 ELF5,ELF5,ELF5,ELF5 EXON Missense_R204Q,Missense_R126Q,Missense_R99Q,Missense_R194Q exm1708512 11 34502470 [C/G] NM_198381,NM_001243081,NM_001243080,NM_001422 ELF5,ELF5,ELF5,ELF5 EXON Missense_L184V,Missense_L106V,Missense_L79V,Missense_L174V exm1708513 11 34502482 [A/G] NM_198381,NM_001243081,NM_001243080,NM_001422 ELF5,ELF5,ELF5,ELF5 EXON Nonsense_R180X,Nonsense_R102X,Nonsense_R75X,Nonsense_R170X exm899990 11 34504002 [T/C] NM_198381,NM_001243081,NM_001243080,NM_001422 ELF5,ELF5,ELF5,ELF5 EXON Missense_D161N,Missense_D83N,Missense_D56N,Missense_D151N exm899993 11 34504043 [A/G] NM_198381,NM_001243081,NM_001243080,NM_001422 ELF5,ELF5,ELF5,ELF5 EXON Missense_A147V,Missense_A69V,Missense_A42V,Missense_A137V exm900013 11 34527191 [A/C] NM_198381,NM_001243081,NM_001243080,NM_001422 ELF5,ELF5,ELF5,ELF5 EXON Missense_F46V,Missense_F46V,Missense_F36V,Missense_F36V exm-rs5028798 11 34605435 [T/G] exm2267263 11 34637669 [A/G] exm-rs286913 11 34655363 [A/G] NM_012153,NM_001206615,NM_001206616 EHF,EHF,EHF Silent,Silent,Silent exm900024 11 34664266 [T/C] NM_012153,NM_001206615,NM_001206616 EHF,EHF,EHF EXON Missense_T30M,Missense_T30M,Missense_T52M exm900029 11 34668069 [A/C] NM_012153,NM_001206615,NM_001206616 EHF,EHF,EHF EXON Missense_H61N,Missense_H61N,Missense_H83N exm900030 11 34668081 [A/T] NM_012153,NM_001206615,NM_001206616 EHF,EHF,EHF EXON Missense_T65S,Missense_T65S,Missense_T87S exm900038 11 34668175 [T/C] NM_012153,NM_001206615,NM_001206616 EHF,EHF,EHF EXON Missense_A96V,Missense_A96V,Missense_A118V exm900040 11 34668184 [T/C] NM_012153,NM_001206615,NM_001206616 EHF,EHF,EHF EXON Missense_T99M,Missense_T99M,Missense_T121M exm900062 11 34680109 [A/G] NM_012153,NM_001206615,NM_001206616 EHF,EHF,EHF EXON Missense_I213V,Missense_I190V,Missense_I235V exm2273477 11 34680634 [A/G] NM_012153,NM_001206615,NM_001206616 EHF,EHF,EHF EXON Silent,Silent,Silent exm-rs1396883 11 34757447 [A/G] exm-rs12793173 11 34834204 [T/C] exm-rs1998603 11 34906562 [G/C] NM_015957 APIP Silent exm900096 11 34909910 [A/G] NM_015957 APIP EXON Missense_R131W exm1708580 11 34910364 [A/G] NM_015957 APIP EXON Missense_S87L exm900105 11 34910397 [T/C] NM_015957 APIP EXON Missense_C76Y exm900111 11 34912098 [T/C] NM_015957 APIP EXON Missense_D54N exm900114 11 34916576 [G/C] NM_015957 APIP EXON Missense_G47R exm900117 11 34916657 [T/C] NM_015957 APIP EXON Missense_D20N exm900125 11 34937813 [A/G] NM_015957,NM_003477,NM_001166158,NM_001135024 APIP,PDHX,PDHX,PDHX EXON Missense_R7W,Silent,Silent,Silent exm900140 11 34938249 [A/C] NM_003477,NM_001166158,NM_001135024 PDHX,PDHX,PDHX EXON Missense_Y16S,Missense_Y16S,Silent exm900149 11 34953004 [A/C] NM_003477,NM_001166158,NM_001135024 PDHX,PDHX,PDHX EXON Missense_N72H,Missense_N72H,Missense_N57H exm900155 11 34969061 [A/G] NM_003477,NM_001166158,NM_001135024 PDHX,PDHX,PDHX EXON Missense_V84M,Missense_V84M,Missense_V69M exm900157 11 34969112 [A/G] NM_003477,NM_001166158,NM_001135024 PDHX,PDHX,PDHX EXON Missense_T101A,Missense_T101A,Missense_T86A exm900163 11 34978956 [A/G] NM_003477,NM_001166158,NM_001135024 PDHX,PDHX,PDHX EXON Missense_R123Q,Silent,Missense_R108Q exm900182 11 34981990 [A/G] NM_003477,NM_001166158,NM_001135024 PDHX,PDHX,PDHX EXON Missense_R189H,Silent,Missense_R174H exm900185 11 34982013 [A/C] NM_003477,NM_001166158,NM_001135024 PDHX,PDHX,PDHX EXON Missense_L197M,Silent,Missense_L182M exm900195 11 34988219 [T/C] NM_003477,NM_001166158,NM_001135024 PDHX,PDHX,PDHX EXON Missense_T225M,Silent,Missense_T210M exm900203 11 34988279 [T/C] NM_003477,NM_001166158,NM_001135024 PDHX,PDHX,PDHX EXON Missense_S245L,Silent,Missense_S230L exm900209 11 34988311 [T/C] NM_003477,NM_001166158,NM_001135024 PDHX,PDHX,PDHX EXON Missense_P256S,Silent,Missense_P241S exm900214 11 34988354 [A/G] NM_003477,NM_001166158,NM_001135024 PDHX,PDHX,PDHX EXON Missense_N270S,Silent,Missense_N255S exm900222 11 34999682 [C/G] NM_003477,NM_001166158,NM_001135024 PDHX,PDHX,PDHX EXON Missense_V326L,Silent,Missense_V311L exm900229 11 35006145 [A/G] NM_003477,NM_001166158,NM_001135024 PDHX,PDHX,PDHX EXON Missense_D351G,Missense_D124G,Missense_D336G exm900232 11 35006193 [T/G] NM_003477,NM_001166158,NM_001135024 PDHX,PDHX,PDHX EXON Missense_V367G,Missense_V140G,Missense_V352G exm900234 11 35006222 [A/G] NM_003477,NM_001166158,NM_001135024 PDHX,PDHX,PDHX EXON Missense_I377V,Missense_I150V,Missense_I362V exm900245 11 35016544 [A/G] NM_003477,NM_001166158,NM_001135024 PDHX,PDHX,PDHX EXON Missense_R444K,Missense_R217K,Missense_R429K exm900246 11 35016546 [T/G] NM_003477,NM_001166158,NM_001135024 PDHX,PDHX,PDHX EXON Missense_F445V,Missense_F218V,Missense_F430V exm2271598 11 35076479 [T/C] exm2264420 11 35099975 [A/C] exm900266 11 35198244 [A/G] NM_001202556,NM_001001390,NM_001001392,NM_001202557,NM_001001389,NM_000610,NM_001001391,NM_001202555 CD44,CD44,CD44,CD44,CD44,CD44,CD44,CD44 EXON Missense_A64T,Missense_A64T,Missense_A64T,Missense_A64T,Missense_A64T,Missense_A64T,Missense_A64T,Missense_A64T exm900279 11 35211477 [A/G] NM_001202556,NM_001001390,NM_001001392,NM_001202557,NM_001001389,NM_000610,NM_001001391,NM_001202555 CD44,CD44,CD44,CD44,CD44,CD44,CD44,CD44 EXON Missense_V178M,Missense_V178M,Silent,Missense_V178M,Missense_V178M,Missense_V178M,Missense_V178M,Missense_V178M exm900301 11 35222734 [A/G] NM_001202556,NM_001001390,NM_001001392,NM_001202557,NM_001001389,NM_000610,NM_001001391,NM_001202555 CD44,CD44,CD44,CD44,CD44,CD44,CD44,CD44 EXON Silent,Silent,Silent,Silent,Missense_R300K,Missense_R343K,Silent,Silent exm900305 11 35226067 [A/G] NM_001202556,NM_001001390,NM_001001392,NM_001202557,NM_001001389,NM_000610,NM_001001391,NM_001202555 CD44,CD44,CD44,CD44,CD44,CD44,CD44,CD44 EXON Silent,Silent,Silent,Silent,Missense_T345A,Missense_T388A,Silent,Silent exm900306 11 35226083 [T/C] NM_001202556,NM_001001390,NM_001001392,NM_001202557,NM_001001389,NM_000610,NM_001001391,NM_001202555 CD44,CD44,CD44,CD44,CD44,CD44,CD44,CD44 EXON Silent,Silent,Silent,Silent,Missense_T350M,Missense_T393M,Silent,Silent exm900307 11 35226143 [A/G] NM_001202556,NM_001001390,NM_001001392,NM_001202557,NM_001001389,NM_000610,NM_001001391,NM_001202555 CD44,CD44,CD44,CD44,CD44,CD44,CD44,CD44 EXON Silent,Silent,Silent,Silent,Missense_R370H,Missense_R413H,Silent,Silent exm900309 11 35226155 [A/G] NM_001202556,NM_001001390,NM_001001392,NM_001202557,NM_001001389,NM_000610,NM_001001391,NM_001202555 CD44,CD44,CD44,CD44,CD44,CD44,CD44,CD44 EXON Silent,Silent,Silent,Silent,Missense_K374R,Missense_K417R,Silent,Silent exm900314 11 35227674 [A/C] NM_001202556,NM_001001390,NM_001001392,NM_001202557,NM_001001389,NM_000610,NM_001001391,NM_001202555 CD44,CD44,CD44,CD44,CD44,CD44,CD44,CD44 EXON Silent,Silent,Silent,Silent,Missense_T390N,Missense_T433N,Silent,Silent exm900316 11 35227745 [A/G] NM_001202556,NM_001001390,NM_001001392,NM_001202557,NM_001001389,NM_000610,NM_001001391,NM_001202555 CD44,CD44,CD44,CD44,CD44,CD44,CD44,CD44 EXON Silent,Silent,Silent,Silent,Missense_I414V,Missense_I457V,Silent,Silent exm900317 11 35227758 [T/C] NM_001202556,NM_001001390,NM_001001392,NM_001202557,NM_001001389,NM_000610,NM_001001391,NM_001202555 CD44,CD44,CD44,CD44,CD44,CD44,CD44,CD44 EXON Silent,Silent,Silent,Silent,Missense_M418T,Missense_M461T,Silent,Silent exm900319 11 35227764 [A/G] NM_001202556,NM_001001390,NM_001001392,NM_001202557,NM_001001389,NM_000610,NM_001001391,NM_001202555 CD44,CD44,CD44,CD44,CD44,CD44,CD44,CD44 EXON Silent,Silent,Silent,Silent,Missense_R420Q,Missense_R463Q,Silent,Silent exm900320 11 35227766 [C/G] NM_001202556,NM_001001390,NM_001001392,NM_001202557,NM_001001389,NM_000610,NM_001001391,NM_001202555 CD44,CD44,CD44,CD44,CD44,CD44,CD44,CD44 EXON Silent,Silent,Silent,Silent,Missense_G421R,Missense_G464R,Silent,Silent exm900322 11 35229673 [T/C] NM_001202556,NM_001001390,NM_001001392,NM_001202557,NM_001001389,NM_000610,NM_001001391,NM_001202555 CD44,CD44,CD44,CD44,CD44,CD44,CD44,CD44 EXON Silent,Missense_I230T,Silent,Silent,Missense_I436T,Missense_I479T,Silent,Silent exm900325 11 35229751 [T/C] NM_001202556,NM_001001390,NM_001001392,NM_001202557,NM_001001389,NM_000610,NM_001001391,NM_001202555 CD44,CD44,CD44,CD44,CD44,CD44,CD44,CD44 EXON Silent,Missense_T256M,Silent,Silent,Missense_T462M,Missense_T505M,Silent,Silent exm900326 11 35229752 [A/G] NM_001202556,NM_001001390,NM_001001392,NM_001202557,NM_001001389,NM_000610,NM_001001391,NM_001202555 CD44,CD44,CD44,CD44,CD44,CD44,CD44,CD44 EXON Silent,Synonymous_T256T,Silent,Silent,Synonymous_T462T,Synonymous_T505T,Silent,Silent exm2276795 11 35229754 [A/G] NM_001202556,NM_001001390,NM_001001392,NM_001202557,NM_001001389,NM_000610,NM_001001391,NM_001202555 CD44,CD44,CD44,CD44,CD44,CD44,CD44,CD44 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm900329 11 35232808 [T/C] NM_001202556,NM_001001390,NM_001001392,NM_001202557,NM_001001389,NM_000610,NM_001001391,NM_001202555 CD44,CD44,CD44,CD44,CD44,CD44,CD44,CD44 EXON Silent,Missense_T292I,Silent,Silent,Missense_T498I,Missense_T541I,Silent,Missense_T228I exm900336 11 35232985 [A/G] NM_001202556,NM_001001390,NM_001001392,NM_001202557,NM_001001389,NM_000610,NM_001001391,NM_001202555 CD44,CD44,CD44,CD44,CD44,CD44,CD44,CD44 EXON Silent,Missense_R351H,Silent,Silent,Missense_R557H,Missense_R600H,Silent,Missense_R287H exm900339 11 35236397 [A/G] NM_001202556,NM_001001390,NM_001001392,NM_001202557,NM_001001389,NM_000610,NM_001001391,NM_001202555 CD44,CD44,CD44,CD44,CD44,CD44,CD44,CD44 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm1708664 11 35243250 [A/G] NM_001202556,NM_001001390,NM_001001392,NM_001202557,NM_001001389,NM_000610,NM_001001391,NM_001202555 CD44,CD44,CD44,CD44,CD44,CD44,CD44,CD44 EXON Synonymous_A263A,Synonymous_A416A,Silent,Synonymous_A284A,Synonymous_A622A,Synonymous_A665A,Synonymous_A284A,Synonymous_A352A exm900349 11 35243271 [T/C] NM_001202556,NM_001001390,NM_001001392,NM_001202557,NM_001001389,NM_000610,NM_001001391,NM_001202555 CD44,CD44,CD44,CD44,CD44,CD44,CD44,CD44 EXON Synonymous_S270S,Synonymous_S423S,Missense_S85P,Synonymous_S291S,Synonymous_S629S,Synonymous_S672S,Synonymous_S291S,Synonymous_S359S exm900350 11 35243273 [A/G] NM_001202556,NM_001001390,NM_001001392,NM_001202557,NM_001001389,NM_000610,NM_001001391,NM_001202555 CD44,CD44,CD44,CD44,CD44,CD44,CD44,CD44 EXON Missense_R271Q,Missense_R424Q,Synonymous_S85S,Missense_R292Q,Missense_R630Q,Missense_R673Q,Missense_R292Q,Missense_R360Q exm900354 11 35250722 [A/G] NM_001202556,NM_001001390,NM_001001392,NM_001001389,NM_000610,NM_001001391,NM_001202555 CD44,CD44,CD44,CD44,CD44,CD44,CD44 EXON Missense_V289M,Missense_V442M,Missense_C103Y,Missense_V648M,Missense_V691M,Missense_V310M,Missense_V378M exm900359 11 35250801 [T/C] NM_001202556,NM_001001390,NM_001001392,NM_001001389,NM_000610,NM_001001391,NM_001202555 CD44,CD44,CD44,CD44,CD44,CD44,CD44 EXON Missense_S315L,Missense_S468L,Synonymous_V129V,Missense_S674L,Missense_S717L,Missense_S336L,Missense_S404L exm900364 11 35250866 [A/C] NM_001202556,NM_001001390,NM_001001392,NM_001001389,NM_000610,NM_001001391,NM_001202555 CD44,CD44,CD44,CD44,CD44,CD44,CD44 EXON Missense_K337Q,Missense_K490Q,Silent,Missense_K696Q,Missense_K739Q,Missense_K358Q,Missense_K426Q exm2273478 11 35282334 [T/C] NM_001252652,NM_001195728,NM_004171 SLC1A2,SLC1A2,SLC1A2 EXON Silent,Silent,Silent exm2249819 11 35302500 [A/G] NM_001252652,NM_001195728,NM_004171 SLC1A2,SLC1A2,SLC1A2 EXON Synonymous_A436A,Synonymous_A436A,Synonymous_A445A exm900415 11 35327767 [T/A] NM_001252652,NM_001195728,NM_004171 SLC1A2,SLC1A2,SLC1A2 EXON Missense_V186D,Missense_V186D,Missense_V195D exm2218522 11 35338975 [G/C] NM_001252652,NM_001195728,NM_004171 SLC1A2,SLC1A2,SLC1A2 EXON Missense_R27G,Missense_R27G,Missense_R36G exm900438 11 35338989 [T/C] NM_001252652,NM_001195728,NM_004171 SLC1A2,SLC1A2,SLC1A2 EXON Missense_R22Q,Missense_R22Q,Missense_R31Q exm900442 11 35440498 [T/C] NM_001252652,NM_001195728,NM_004171 SLC1A2,SLC1A2,SLC1A2 EXON Silent,Silent,Missense_G6S exm900453 11 35454022 [T/C] NM_001001991,NM_015430 PAMR1,PAMR1 EXON Missense_R682H,Missense_R699H exm2249820 11 35454186 [T/C] NM_001001991,NM_015430 PAMR1,PAMR1 EXON Synonymous_S627S,Synonymous_S644S exm900466 11 35454224 [T/C] NM_001001991,NM_015430 PAMR1,PAMR1 EXON Missense_D615N,Missense_D632N exm900475 11 35456061 [T/C] NM_001001991,NM_015430 PAMR1,PAMR1 EXON Missense_Q542R,Missense_Q559R exm900476 11 35456085 [A/T] NM_001001991,NM_015430 PAMR1,PAMR1 EXON Missense_D534V,Missense_D551V exm900481 11 35456149 [T/C] NM_001001991,NM_015430 PAMR1,PAMR1 EXON Missense_T513A,Missense_T530A exm900483 11 35456196 [T/C] NM_001001991,NM_015430 PAMR1,PAMR1 EXON Missense_R497H,Missense_R514H exm900486 11 35456248 [C/G] NM_001001991,NM_015430 PAMR1,PAMR1 EXON Missense_L480V,Missense_L497V exm900490 11 35456305 [A/G] NM_001001991,NM_015430 PAMR1,PAMR1 EXON Missense_R461C,Missense_R478C exm900492 11 35457471 [T/C] NM_001001991,NM_015430 PAMR1,PAMR1 EXON Missense_R438Q,Missense_R455Q exm900495 11 35457523 [A/G] NM_001001991,NM_015430 PAMR1,PAMR1 EXON Missense_R421C,Missense_R438C exm900504 11 35457654 [A/G] NM_001001991,NM_015430 PAMR1,PAMR1 EXON Missense_A377V,Missense_A394V exm900510 11 35463028 [A/C] NM_001001991,NM_015430 PAMR1,PAMR1 Silent,Silent exm900511 11 35463047 [G/C] NM_001001991,NM_015430 PAMR1,PAMR1 EXON Missense_Q339E,Missense_Q356E exm2218524 11 35463052 [T/C] NM_001001991,NM_015430 PAMR1,PAMR1 EXON Missense_G337E,Missense_G354E exm900517 11 35463149 [T/C] NM_001001991,NM_015430 PAMR1,PAMR1 EXON Missense_A305T,Missense_A322T exm900518 11 35463155 [A/G] NM_001001991,NM_015430 PAMR1,PAMR1 EXON Missense_R303C,Missense_R320C exm2218526 11 35489623 [A/G] NM_001001991,NM_015430 PAMR1,PAMR1 EXON Missense_T249M,Missense_T249M exm900537 11 35492215 [T/C] NM_001001991,NM_015430 PAMR1,PAMR1 EXON Missense_V216I,Missense_V216I exm2218527 11 35492236 [T/C] NM_001001991,NM_015430 PAMR1,PAMR1 EXON Missense_S209G,Missense_S209G exm900543 11 35492293 [A/G] NM_001001991,NM_015430 PAMR1,PAMR1 EXON Missense_R190C,Missense_R190C exm900544 11 35492308 [A/G] NM_001001991,NM_015430 PAMR1,PAMR1 EXON Missense_R185C,Missense_R185C exm900545 11 35492317 [T/C] NM_001001991,NM_015430 PAMR1,PAMR1 EXON Missense_V182I,Missense_V182I exm900547 11 35492356 [A/C] NM_001001991,NM_015430 PAMR1,PAMR1 EXON Missense_L169V,Missense_L169V exm900548 11 35496184 [T/C] NM_001001991,NM_015430 PAMR1,PAMR1 EXON Missense_Q163R,Missense_Q163R exm2276880 11 35513593 [A/G] NM_001001991,NM_015430 PAMR1,PAMR1 EXON Nonsense_R127X,Nonsense_R127X exm1708738 11 35513593 [T/G] NM_001001991,NM_015430 PAMR1,PAMR1 EXON Synonymous_R127R,Synonymous_R127R exm900554 11 35513623 [A/G] NM_001001991,NM_015430 PAMR1,PAMR1 EXON Nonsense_R117X,Nonsense_R117X exm900559 11 35513671 [A/C] NM_001001991,NM_015430 PAMR1,PAMR1 EXON Missense_G101C,Missense_G101C exm900566 11 35515721 [T/C] NM_001001991,NM_015430 PAMR1,PAMR1 EXON Missense_K58R,Missense_K58R exm2267168 11 35540398 [A/G] NM_001001991,NM_015430 PAMR1,PAMR1 Silent,Silent exm900602 11 35641131 [C/G] NM_014344 FJX1 EXON Missense_P316R exm900603 11 35641136 [G/C] NM_014344 FJX1 EXON Missense_V318L exm900610 11 35641295 [A/G] NM_014344 FJX1 EXON Missense_T371A exm900612 11 35641428 [A/G] NM_014344 FJX1 EXON Missense_R415H exm-rs7928794 11 35701236 [A/C] NM_017583 TRIM44 Silent exm900653 11 35747665 [A/G] NM_017583 TRIM44 EXON Missense_K314R exm1708766 11 35756977 [A/G] NM_017583 TRIM44 EXON Missense_D331N exm900657 11 35756978 [T/A] NM_017583 TRIM44 EXON Missense_D331V exm2271599 11 36004699 [T/C] NM_174902 LDLRAD3 Silent exm1708769 11 36057654 [C/G] NM_174902 LDLRAD3 EXON Missense_E16D exm900663 11 36057670 [A/G] NM_174902 LDLRAD3 EXON Missense_G22R exm900666 11 36057742 [A/G] NM_174902 LDLRAD3 EXON Missense_A46T exm900667 11 36057782 [A/G] NM_174902 LDLRAD3 EXON Missense_S59N exm900668 11 36057799 [T/C] NM_174902 LDLRAD3 EXON Missense_P65S exm900686 11 36119939 [A/G] NM_174902 LDLRAD3 EXON Missense_K128E exm900690 11 36120002 [A/C] NM_174902 LDLRAD3 EXON Missense_S149R exm2267169 11 36146156 [A/G] NM_174902 LDLRAD3 Silent exm900694 11 36248676 [G/C] NM_174902 LDLRAD3 EXON Missense_L166V exm900701 11 36248802 [A/G] NM_174902 LDLRAD3 EXON Missense_V208M exm900725 11 36250784 [G/C] NM_174902 LDLRAD3 EXON Missense_P292R exm1708777 11 36250795 [T/C] NM_174902 LDLRAD3 EXON Missense_R296W exm900728 11 36250796 [A/G] NM_174902 LDLRAD3 EXON Missense_R296Q exm900737 11 36250894 [A/G] NM_174902 LDLRAD3 EXON Missense_G329S exm900738 11 36250933 [T/A] NM_174902 LDLRAD3 EXON Missense_T342S exm900770 11 36297733 [T/A] NM_014186,NM_001101653 COMMD9,COMMD9 EXON Missense_D137V,Missense_D95V exm900777 11 36298657 [T/C] NM_014186,NM_001101653 COMMD9,COMMD9 EXON Missense_E112K,Missense_E70K exm900785 11 36300124 [A/G] NM_014186,NM_001101653 COMMD9,COMMD9 EXON Missense_R74C,Missense_R32C exm900793 11 36302369 [G/C] NM_014186,NM_001101653 COMMD9,COMMD9 EXON Missense_V24L,Silent exm900795 11 36310912 [T/C] NM_014186,NM_001101653 COMMD9,COMMD9 EXON Synonymous_K17K,Synonymous_K17K exm2271486 11 36311014 [T/G] exm900800 11 36422679 [A/G] NM_001160167,NM_024841,NM_001160168,NM_001160169 PRR5L,PRR5L,PRR5L,PRR5L EXON Missense_R3H,Missense_R3H,Silent,Missense_R3H exm900803 11 36422702 [A/G] NM_001160167,NM_024841,NM_001160168,NM_001160169 PRR5L,PRR5L,PRR5L,PRR5L EXON Missense_V11I,Missense_V11I,Silent,Missense_V11I exm900804 11 36422712 [A/G] NM_001160167,NM_024841,NM_001160168,NM_001160169 PRR5L,PRR5L,PRR5L,PRR5L EXON Missense_H14R,Missense_H14R,Silent,Missense_H14R exm900809 11 36422792 [A/G] NM_001160167,NM_024841,NM_001160168,NM_001160169 PRR5L,PRR5L,PRR5L,PRR5L EXON Missense_A41T,Missense_A41T,Silent,Missense_A41T exm2276988 11 36424870 [A/G] NM_001160167,NM_024841,NM_001160168,NM_001160169 PRR5L,PRR5L,PRR5L,PRR5L EXON Missense_V63I,Missense_V63I,Silent,Missense_V63I exm900822 11 36440836 [A/G] NM_001160167,NM_024841,NM_001160168,NM_001160169 PRR5L,PRR5L,PRR5L,PRR5L EXON Missense_I93V,Missense_I93V,Missense_I12V,Missense_I93V exm900832 11 36458997 [A/G] NM_001160167,NM_024841,NM_001160168,NM_001160169 PRR5L,PRR5L,PRR5L,PRR5L EXON Missense_T139A,Missense_T139A,Missense_T58A,Missense_T139A exm2249823 11 36472848 [T/C] NM_001160167,NM_024841,NM_001160168,NM_001160169 PRR5L,PRR5L,PRR5L,PRR5L EXON Synonymous_S225S,Synonymous_S225S,Synonymous_S97S,Silent exm900846 11 36472856 [A/G] NM_001160167,NM_024841,NM_001160168,NM_001160169 PRR5L,PRR5L,PRR5L,PRR5L EXON Missense_R228H,Missense_R228H,Missense_R100H,Silent exm900858 11 36484111 [G/C] NM_001160167,NM_024841,NM_001160168,NM_001160169 PRR5L,PRR5L,PRR5L,PRR5L EXON Missense_G311A,Missense_G311A,Missense_G183A,Silent exm900864 11 36484179 [T/C] NM_001160167,NM_024841,NM_001160168,NM_001160169 PRR5L,PRR5L,PRR5L,PRR5L EXON Missense_R334W,Missense_R334W,Missense_R206W,Silent exm900866 11 36484203 [A/G] NM_001160167,NM_024841,NM_001160168,NM_001160169 PRR5L,PRR5L,PRR5L,PRR5L EXON Missense_I342V,Missense_I342V,Missense_I214V,Silent exm2218530 11 36511438 [T/A] NM_004620,NM_145803 TRAF6,TRAF6 EXON Missense_S507C,Missense_S507C exm900880 11 36511872 [A/G] NM_004620,NM_145803 TRAF6,TRAF6 EXON Missense_M362T,Missense_M362T exm1708821 11 36516543 [T/C] NM_004620,NM_145803 TRAF6,TRAF6 EXON Missense_I221V,Missense_I221V exm900896 11 36516587 [T/C] NM_004620,NM_145803 TRAF6,TRAF6 EXON Missense_Q206R,Missense_Q206R exm900904 11 36518785 [A/G] NM_004620,NM_145803 TRAF6,TRAF6 EXON Missense_M160T,Missense_M160T exm900912 11 36594855 [A/G] NM_000448 RAG1 EXON Missense_M1V exm900923 11 36595048 [T/C] NM_000448 RAG1 EXON Missense_V65A exm900925 11 36595105 [A/G] NM_000448 RAG1 EXON Missense_H84R exm900928 11 36595149 [A/G] NM_000448 RAG1 EXON Missense_G99S exm900939 11 36595431 [A/G] NM_000448 RAG1 EXON Missense_E193K exm900943 11 36595507 [A/G] NM_000448 RAG1 EXON Missense_R218H exm900947 11 36595579 [A/G] NM_000448 RAG1 EXON Missense_Q242R exm900949 11 36595594 [A/G] NM_000448 RAG1 EXON Missense_R247H exm900950 11 36595600 [A/G] NM_000448 RAG1 EXON Missense_H249R exm900961 11 36595828 [A/G] NM_000448 RAG1 EXON Missense_G325D exm900963 11 36595918 [T/C] NM_000448 RAG1 EXON Missense_M355T exm900966 11 36595945 [A/G] NM_000448 RAG1 EXON Missense_N364S exm900967 11 36596008 [T/C] NM_000448 RAG1 EXON Missense_I385T exm900968 11 36596041 [A/G] NM_000448 RAG1 EXON Missense_R396H exm900975 11 36596200 [A/G] NM_000448 RAG1 EXON Missense_R449K exm2218534 11 36596427 [T/C] NM_000448 RAG1 EXON Missense_P525S exm900986 11 36596528 [C/G] NM_000448 RAG1 EXON Missense_K558N exm900989 11 36596581 [A/T] NM_000448 RAG1 EXON Missense_D576V exm900991 11 36596613 [A/G] NM_000448 RAG1 EXON Missense_D587N exm900994 11 36596718 [A/G] NM_000448 RAG1 EXON Missense_A622T exm900998 11 36596863 [T/C] NM_000448 RAG1 EXON Missense_T670M exm901010 11 36597313 [A/G] NM_000448 RAG1 EXON Missense_K820R exm901020 11 36597480 [A/G] NM_000448 RAG1 EXON Missense_E876K exm901021 11 36597492 [A/G] NM_000448 RAG1 EXON Missense_E880K exm901022 11 36597513 [A/G] NM_000448 RAG1 EXON Missense_D887N exm901040 11 36597870 [A/G] NM_000448 RAG1 EXON Missense_M1006V exm901045 11 36614203 [A/G] NM_001243785,NM_000536,NM_001243786 RAG2,RAG2,RAG2 EXON Missense_R506C,Missense_R506C,Missense_R506C exm901046 11 36614215 [T/C] NM_001243785,NM_000536,NM_001243786 RAG2,RAG2,RAG2 EXON Missense_M502V,Missense_M502V,Missense_M502V exm901049 11 36614328 [T/C] NM_001243785,NM_000536,NM_001243786 RAG2,RAG2,RAG2 EXON Missense_R464H,Missense_R464H,Missense_R464H exm901052 11 36614367 [G/C] NM_001243785,NM_000536,NM_001243786 RAG2,RAG2,RAG2 EXON Missense_G451A,Missense_G451A,Missense_G451A exm901054 11 36614514 [T/C] NM_001243785,NM_000536,NM_001243786 RAG2,RAG2,RAG2 EXON Missense_Y402C,Missense_Y402C,Missense_Y402C exm901055 11 36614521 [G/C] NM_001243785,NM_000536,NM_001243786 RAG2,RAG2,RAG2 EXON Missense_D400H,Missense_D400H,Missense_D400H exm901056 11 36614561 [T/G] NM_001243785,NM_000536,NM_001243786 RAG2,RAG2,RAG2 EXON Missense_F386L,Missense_F386L,Missense_F386L exm901060 11 36614627 [G/C] NM_001243785,NM_000536,NM_001243786 RAG2,RAG2,RAG2 EXON Missense_N364K,Missense_N364K,Missense_N364K exm901064 11 36614810 [A/C] NM_001243785,NM_000536,NM_001243786 RAG2,RAG2,RAG2 EXON Missense_E303D,Missense_E303D,Missense_E303D exm901065 11 36614820 [T/C] NM_001243785,NM_000536,NM_001243786 RAG2,RAG2,RAG2 EXON Missense_R300H,Missense_R300H,Missense_R300H exm901067 11 36614841 [T/C] NM_001243785,NM_000536,NM_001243786 RAG2,RAG2,RAG2 EXON Missense_E293G,Missense_E293G,Missense_E293G exm901096 11 36615684 [A/G] NM_001243785,NM_000536,NM_001243786 RAG2,RAG2,RAG2 EXON Missense_I12T,Missense_I12T,Missense_I12T exm901097 11 36615697 [T/C] NM_001243785,NM_000536,NM_001243786 RAG2,RAG2,RAG2 EXON Missense_V8I,Missense_V8I,Missense_V8I exm901101 11 36631666 [A/G] NM_138787 C11orf74 EXON Missense_M5V exm901116 11 36657633 [A/C] NM_138787 C11orf74 EXON Missense_D108E exm901118 11 36669592 [T/G] NM_138787 C11orf74 EXON Nonsense_E129X exm901126 11 36680719 [A/G] NM_138787 C11orf74 EXON Missense_E217K exm-rs957162 11 36713826 [A/C] exm2267170 11 36896281 [A/G] exm2267264 11 37153829 [A/G] exm2271487 11 37256343 [T/C] exm2271488 11 37700681 [T/G] exm-rs16930685 11 37870981 [T/C] exm2271600 11 38306585 [T/G] exm2271489 11 38409443 [T/C] exm2267265 11 38590019 [A/G] exm2264421 11 38845174 [A/C] exm2249833 11 39327563 [T/G] exm-rs12808199 11 39327959 [A/G] exm2271601 11 39746905 [T/C] exm2267171 11 40015352 [A/G] exm901140 11 40136116 [A/G] NR_047674,NM_001258419,NR_047673,NM_020929 LRRC4C,LRRC4C,LRRC4C,LRRC4C EXON Silent,Missense_T576M,Silent,Missense_T576M exm901143 11 40136176 [T/C] NR_047674,NM_001258419,NR_047673,NM_020929 LRRC4C,LRRC4C,LRRC4C,LRRC4C EXON Silent,Missense_R556Q,Silent,Missense_R556Q exm901145 11 40136261 [T/C] NR_047674,NM_001258419,NR_047673,NM_020929 LRRC4C,LRRC4C,LRRC4C,LRRC4C EXON Silent,Missense_I528V,Silent,Missense_I528V exm901152 11 40136434 [T/C] NR_047674,NM_001258419,NR_047673,NM_020929 LRRC4C,LRRC4C,LRRC4C,LRRC4C EXON Silent,Missense_R470Q,Silent,Missense_R470Q exm901153 11 40136435 [A/G] NR_047674,NM_001258419,NR_047673,NM_020929 LRRC4C,LRRC4C,LRRC4C,LRRC4C EXON Silent,Missense_R470W,Silent,Missense_R470W exm901155 11 40136474 [T/C] NR_047674,NM_001258419,NR_047673,NM_020929 LRRC4C,LRRC4C,LRRC4C,LRRC4C EXON Silent,Missense_V457I,Silent,Missense_V457I exm901157 11 40136506 [A/G] NR_047674,NM_001258419,NR_047673,NM_020929 LRRC4C,LRRC4C,LRRC4C,LRRC4C EXON Silent,Missense_A446V,Silent,Missense_A446V exm901178 11 40137145 [A/G] NR_047674,NM_001258419,NR_047673,NM_020929 LRRC4C,LRRC4C,LRRC4C,LRRC4C EXON Silent,Missense_A233V,Silent,Missense_A233V exm901202 11 40137800 [T/C] NR_047674,NM_001258419,NR_047673,NM_020929 LRRC4C,LRRC4C,LRRC4C,LRRC4C EXON Silent,Missense_G15S,Silent,Missense_G15S exm901203 11 40137835 [T/G] NR_047674,NM_001258419,NR_047673,NM_020929 LRRC4C,LRRC4C,LRRC4C,LRRC4C EXON Silent,Missense_N3T,Silent,Missense_N3T exm2271602 11 40247102 [T/C] NR_047674,NM_001258419,NR_047673,NM_020929 LRRC4C,LRRC4C,LRRC4C,LRRC4C Silent,Silent,Silent,Silent exm-rs4611189 11 40837713 [A/G] NM_001258419,NM_020929 LRRC4C,LRRC4C Silent,Silent exm2271491 11 41050016 [T/C] NM_001258419,NM_020929 LRRC4C,LRRC4C Silent,Silent exm-rs10837607 11 41294454 [A/G] NM_001258419,NM_020929 LRRC4C,LRRC4C Silent,Silent exm2271603 11 41431255 [T/G] NM_001258419,NM_020929 LRRC4C,LRRC4C Silent,Silent exm2264422 11 41731763 [A/C] exm-rs1484948 11 41852664 [T/C] exm-rs9300039 11 41915366 [A/C] exm2259779 11 42246718 [A/G] NR_038309 LOC100507205 Silent exm2267173 11 42458745 [A/G] exm2271604 11 42754350 [T/G] exm2271492 11 42885153 [T/C] exm-rs10501293 11 43086094 [T/G] exm901213 11 43343536 [A/G] NR_024625,NM_006595,NM_001142931,NM_001243747,NM_001142930 API5,API5,API5,API5,API5 EXON Silent,Synonymous_G131G,Synonymous_G77G,Silent,Synonymous_G131G exm901227 11 43349381 [A/G] NR_024625,NM_006595,NM_001142931,NM_001243747,NM_001142930 API5,API5,API5,API5,API5 EXON Silent,Missense_M300V,Missense_M246V,Missense_M127V,Missense_M300V exm2218568 11 43356889 [A/G] NR_024625,NM_006595,NM_001142931,NM_001243747,NM_001142930 API5,API5,API5,API5,API5 EXON Silent,Missense_Q447R,Missense_Q393R,Missense_Q274R,Missense_Q447R exm2249852 11 43380651 [A/G] NM_018259 TTC17 EXON Synonymous_K49K exm901256 11 43400850 [T/C] NM_018259 TTC17 EXON Missense_V76A exm901264 11 43413028 [A/C] NM_018259 TTC17 EXON Missense_I145L exm1709617 11 43413479 [T/C] NM_018259 TTC17 EXON Missense_L214F exm2249854 11 43418972 [T/C] NM_018259 TTC17 EXON Synonymous_V283V exm901282 11 43418972 [T/C] NM_018259 TTC17 EXON Synonymous_V283V exm901286 11 43419566 [A/G] NM_018259 TTC17 EXON Missense_A321T exm901287 11 43419591 [A/G] NM_018259 TTC17 EXON Missense_E329G exm901298 11 43423064 [T/C] NM_018259 TTC17 EXON Missense_R430C exm2249855 11 43425601 [A/G] NM_018259 TTC17 EXON Synonymous_Q462Q exm901306 11 43425601 [A/G] NM_018259 TTC17 EXON Synonymous_Q462Q exm901308 11 43425656 [A/G] NM_018259 TTC17 EXON Missense_I481V exm901311 11 43427146 [T/C] NM_018259 TTC17 EXON Missense_T521M exm901313 11 43427167 [A/G] NM_018259 TTC17 EXON Missense_N528S exm901320 11 43427400 [A/G] NM_018259 TTC17 EXON Missense_I554V exm2218572 11 43427460 [A/C] NM_018259 TTC17 EXON Missense_M574L exm901323 11 43427466 [A/C] NM_018259 TTC17 EXON Missense_L576M exm2274470 11 43427469 [A/C] NM_018259 TTC17 EXON Missense_K577Q exm901329 11 43428912 [T/C] NM_018259 TTC17 EXON Missense_P617S exm901336 11 43429117 [A/G] NM_018259 TTC17 EXON Missense_N685S exm901341 11 43436258 [A/G] NM_018259 TTC17 EXON Missense_S728N exm901350 11 43465009 [A/G] NM_018259 TTC17 EXON Missense_E796K exm901353 11 43465061 [T/G] NM_018259 TTC17 EXON Missense_G813V exm901359 11 43465654 [A/C] NM_018259 TTC17 EXON Missense_K854Q exm1709660 11 43469572 [A/C] NM_018259 TTC17 EXON Missense_R896S exm901376 11 43469612 [A/G] NM_018259 TTC17 EXON Missense_R909H exm901380 11 43471694 [A/G] NM_018259 TTC17 EXON Missense_N950S exm901388 11 43472759 [T/C] NM_018259 TTC17 EXON Missense_Y992H exm1709668 11 43511891 [T/G] NM_018259 TTC17 EXON Missense_A1045S exm901395 11 43513630 [A/G] NM_018259 TTC17 EXON Missense_V1071I exm901426 11 43772505 [C/G] NM_016142 HSD17B12 EXON Missense_E69Q exm901441 11 43859928 [A/G] NM_016142 HSD17B12 EXON Missense_T200A exm2218573 11 43861571 [A/T] NM_016142 HSD17B12 EXON Missense_Q214L exm901449 11 43876313 [T/C] NM_016142 HSD17B12 EXON Missense_P245S exm901451 11 43876341 [T/C] NM_016142 HSD17B12 EXON Missense_T254M exm901458 11 43876698 [T/C] NM_016142 HSD17B12 EXON Missense_S280L exm1709712 11 43876771 [G/C] NM_016142 HSD17B12 EXON Missense_H304Q exm901467 11 43904221 [T/C] NM_139178 ALKBH3 EXON Nonsense_R7X exm901472 11 43904670 [T/G] NM_139178 ALKBH3 EXON Missense_G39C exm901474 11 43904691 [C/G] NM_139178 ALKBH3 EXON Missense_E46Q exm901481 11 43905557 [T/C] NM_139178 ALKBH3 EXON Nonsense_R70X exm901486 11 43911303 [A/G] NM_139178 ALKBH3 EXON Missense_V99M exm2249858 11 43911365 [T/C] NM_139178 ALKBH3 EXON Synonymous_T119T exm901492 11 43913677 [C/G] NM_139178 ALKBH3 EXON Missense_H153D exm901500 11 43923081 [T/C] NM_139178 ALKBH3 EXON Missense_R159C exm901502 11 43923096 [T/C] NM_139178 ALKBH3 EXON Missense_R164C exm901511 11 43923171 [A/G] NM_139178 ALKBH3 EXON Missense_D189N exm901516 11 43940595 [A/G] NM_139178,NR_038907 ALKBH3,LOC100507300 EXON Missense_N226S,Silent exm901517 11 43940602 [G/C] NM_139178,NR_038907 ALKBH3,LOC100507300 EXON Missense_D228E,Silent exm2267267 11 43955783 [A/G] exm901540 11 44069589 [A/G] NM_001031854 ACCSL EXON Missense_M1I exm901549 11 44069719 [A/G] NM_001031854 ACCSL EXON Missense_V45M exm901551 11 44069734 [A/G] NM_001031854 ACCSL EXON Missense_R50G exm901553 11 44069804 [A/G] NM_001031854 ACCSL EXON Missense_R73H exm1709767 11 44069816 [A/G] NM_001031854 ACCSL EXON Missense_R77Q exm901557 11 44069846 [T/C] NM_001031854 ACCSL EXON Missense_A87V exm901560 11 44069884 [A/G] NM_001031854 ACCSL EXON Missense_D100N exm1709770 11 44069984 [A/G] NM_001031854 ACCSL EXON Missense_R133H exm901570 11 44072127 [T/C] NM_001031854 ACCSL EXON Missense_I197T exm901580 11 44072937 [T/C] NM_001031854 ACCSL EXON Nonsense_R230X exm901581 11 44072938 [A/G] NM_001031854 ACCSL EXON Missense_R230Q exm901585 11 44073203 [A/G] NM_001031854 ACCSL EXON Missense_V236M exm901589 11 44073268 [T/C] NM_001031854 ACCSL EXON Synonymous_G257G exm901604 11 44076808 [A/C] NM_001031854 ACCSL EXON Missense_S369Y exm901606 11 44077594 [C/G] NM_001031854 ACCSL EXON Missense_P382A exm901623 11 44080210 [T/C] NM_001031854 ACCSL EXON Missense_C529R exm901632 11 44081393 [T/C] NM_001031854 ACCSL EXON Missense_R544C exm901637 11 44089221 [G/C] NM_001127219,NM_032592 ACCS,ACCS EXON Missense_C15S,Missense_C15S exm901644 11 44089352 [A/G] NM_001127219,NM_032592 ACCS,ACCS EXON Missense_D59N,Missense_D59N exm901655 11 44095050 [C/G] NM_001127219,NM_032592 ACCS,ACCS EXON Missense_D134E,Missense_D134E exm-rs178523 11 44097226 [A/G] NM_001127219,NM_032592 ACCS,ACCS Silent,Silent exm901677 11 44098924 [A/G] NM_001127219,NM_032592 ACCS,ACCS EXON Missense_E218K,Missense_E218K exm901682 11 44099402 [A/G] NM_001127219,NM_032592 ACCS,ACCS EXON Missense_G221E,Missense_G221E exm901683 11 44099413 [T/C] NM_001127219,NM_032592 ACCS,ACCS EXON Missense_R225C,Missense_R225C exm901684 11 44099439 [T/G] NM_001127219,NM_032592 ACCS,ACCS EXON Missense_K233N,Missense_K233N exm901693 11 44101106 [A/G] NM_001127219,NM_032592 ACCS,ACCS EXON Missense_E287K,Missense_E287K exm1709829 11 44101149 [A/G] NM_001127219,NM_032592 ACCS,ACCS EXON Missense_R301H,Missense_R301H exm901705 11 44102751 [A/G] NM_001127219,NM_032592 ACCS,ACCS EXON Missense_R331H,Missense_R331H exm901708 11 44102798 [G/C] NM_001127219,NM_032592 ACCS,ACCS EXON Missense_A347P,Missense_A347P exm901712 11 44102868 [A/G] NM_001127219,NM_032592 ACCS,ACCS EXON Missense_R370H,Missense_R370H exm901715 11 44104743 [T/C] NM_001127219,NM_032592 ACCS,ACCS EXON Missense_P379L,Missense_P379L exm901719 11 44104823 [T/C] NM_001127219,NM_032592 ACCS,ACCS EXON Missense_R406C,Missense_R406C exm901720 11 44104824 [A/G] NM_001127219,NM_032592 ACCS,ACCS EXON Missense_R406H,Missense_R406H exm1709835 11 44104860 [A/G] NM_001127219,NM_032592 ACCS,ACCS EXON Missense_K418R,Missense_K418R exm901722 11 44104981 [T/C] NM_001127219,NM_032592 ACCS,ACCS EXON Missense_P421L,Missense_P421L exm2274471 11 44105284 [T/A] NM_001127219,NM_032592 ACCS,ACCS EXON Missense_Q483L,Missense_Q483L exm901735 11 44105301 [T/C] NM_001127219,NM_032592 ACCS,ACCS EXON Missense_R489C,Missense_R489C exm901739 11 44129270 [T/C] NM_001178083,NM_207122,NM_000401 EXT2,EXT2,EXT2 EXON Missense_A3V,Missense_A3V,Missense_A36V exm901742 11 44129386 [A/G] NM_001178083,NM_207122,NM_000401 EXT2,EXT2,EXT2 EXON Missense_M42V,Missense_M42V,Missense_M75V exm901747 11 44129522 [T/G] NM_001178083,NM_207122,NM_000401 EXT2,EXT2,EXT2 EXON Missense_M87R,Missense_M87R,Missense_M120R exm901751 11 44129620 [A/G] NM_001178083,NM_207122,NM_000401 EXT2,EXT2,EXT2 EXON Missense_V120I,Missense_V120I,Missense_V153I exm901757 11 44129736 [A/T] NM_001178083,NM_207122,NM_000401 EXT2,EXT2,EXT2 EXON Missense_D158E,Missense_D158E,Missense_D191E exm901762 11 44129782 [A/C] NM_001178083,NM_207122,NM_000401 EXT2,EXT2,EXT2 EXON Missense_M174L,Missense_M174L,Missense_M207L exm901767 11 44135818 [T/C] NM_001178083,NM_207122,NM_000401 EXT2,EXT2,EXT2 EXON Missense_S237L,Missense_S237L,Missense_S270L exm901770 11 44146343 [T/C] NM_001178083,NM_207122,NM_000401 EXT2,EXT2,EXT2 EXON Missense_R250W,Missense_R250W,Missense_R283W exm901777 11 44146484 [T/C] NM_001178083,NM_207122,NM_000401 EXT2,EXT2,EXT2 EXON Missense_R297C,Missense_R297C,Missense_R330C exm901781 11 44148391 [A/G] NM_001178083,NM_207122,NM_000401 EXT2,EXT2,EXT2 EXON Missense_R322H,Missense_R322H,Missense_R355H exm901790 11 44148448 [T/C] NM_001178083,NM_207122,NM_000401 EXT2,EXT2,EXT2 EXON Missense_P341L,Missense_P341L,Missense_P374L exm901795 11 44151602 [A/G] NM_001178083,NM_207122,NM_000401 EXT2,EXT2,EXT2 EXON Missense_V363M,Missense_V363M,Missense_V396M exm901796 11 44151625 [T/G] NM_001178083,NM_207122,NM_000401 EXT2,EXT2,EXT2 EXON Missense_M370I,Missense_M370I,Missense_M403I exm901802 11 44193165 [A/G] NM_001178083,NM_207122,NM_000401 EXT2,EXT2,EXT2 EXON Silent,Missense_R393Q,Missense_R426Q exm901809 11 44193294 [T/C] NM_001178083,NM_207122,NM_000401 EXT2,EXT2,EXT2 Silent,Silent,Silent exm901819 11 44219485 [A/G] NM_001178083,NM_207122,NM_000401 EXT2,EXT2,EXT2 EXON Missense_R481Q,Missense_R471Q,Missense_R504Q exm901826 11 44228381 [T/G] NM_001178083,NM_207122,NM_000401 EXT2,EXT2,EXT2 EXON Missense_V522L,Missense_V512L,Missense_V545L exm901829 11 44228435 [A/G] NM_001178083,NM_207122,NM_000401 EXT2,EXT2,EXT2 EXON Missense_E540K,Missense_E530K,Missense_E563K exm901836 11 44254000 [T/C] NM_001178083,NM_207122,NM_000401 EXT2,EXT2,EXT2 EXON Missense_T597M,Missense_T587M,Missense_T620M exm901850 11 44265823 [A/G] NM_001178083,NM_207122,NM_000401 EXT2,EXT2,EXT2 EXON Missense_I725V,Missense_I715V,Missense_I748V exm901861 11 44286523 [A/G] NM_021926 ALX4 EXON Missense_L373F exm2218583 11 44286534 [T/C] NM_021926 ALX4 EXON Missense_G369E exm901876 11 44286723 [A/G] NM_021926 ALX4 EXON Missense_P306L exm901878 11 44289063 [T/C] NM_021926 ALX4 EXON Missense_R296Q exm901889 11 44296947 [A/G] NM_021926 ALX4 EXON Missense_A243V exm901905 11 44331153 [A/T] NM_021926 ALX4 EXON Missense_C154S exm901906 11 44331173 [T/C] NM_021926 ALX4 EXON Missense_S147N exm901912 11 44331309 [A/G] NM_021926 ALX4 EXON Missense_P102S exm901924 11 44331509 [G/C] NM_021926 ALX4 EXON Missense_R35T exm-rs7946749 11 44373635 [T/C] exm2249862 11 44521492 [T/C] exm901937 11 44621780 [T/C] NM_001024844,NM_002231 CD82,CD82 EXON Nonsense_Q46X,Nonsense_Q46X exm901948 11 44626709 [A/G] NM_001024844,NM_002231 CD82,CD82 EXON Missense_E80K,Missense_E80K exm2218585 11 44636880 [T/G] NM_001024844,NM_002231 CD82,CD82 EXON Missense_R107L,Missense_R132L exm901958 11 44636912 [A/G] NM_001024844,NM_002231 CD82,CD82 EXON Missense_V118M,Missense_V143M exm901963 11 44639772 [T/C] NM_001024844,NM_002231 CD82,CD82 EXON Missense_R142C,Missense_R167C exm901968 11 44639853 [A/G] NM_001024844,NM_002231 CD82,CD82 EXON Missense_E169K,Missense_E194K exm901981 11 44640268 [A/G] NM_001024844,NM_002231 CD82,CD82 EXON Missense_I216V,Missense_I241V exm901984 11 44640632 [T/C] NM_001024844,NM_002231 CD82,CD82 EXON Missense_R229W,Missense_R254W exm901988 11 44640665 [T/C] NM_001024844,NM_002231 CD82,CD82 EXON Missense_P240S,Missense_P265S exm902000 11 44931280 [T/A] NM_130783 TSPAN18 EXON Missense_I30F exm902002 11 44931308 [T/C] NM_130783 TSPAN18 EXON Missense_T39I exm902012 11 44931397 [A/G] NM_130783 TSPAN18 EXON Missense_G69S exm902020 11 44940772 [A/G] NM_130783 TSPAN18 EXON Missense_R114Q exm902023 11 44940819 [A/G] NM_130783 TSPAN18 EXON Missense_D130N exm902024 11 44940828 [A/G] NM_130783 TSPAN18 EXON Missense_V133I exm902048 11 44950703 [A/G] NM_130783 TSPAN18 EXON Missense_M241V exm902062 11 44956567 [T/C] NM_001258323,NM_001258322,NM_001258321,NM_001258320,NM_001258324,NM_006034 TP53I11,TP53I11,TP53I11,TP53I11,TP53I11,TP53I11 EXON Synonymous_V146V,Synonymous_V146V,Synonymous_V146V,Synonymous_V146V,Synonymous_V146V,Synonymous_V146V exm902074 11 44958869 [T/C] NM_001258323,NM_001258322,NM_001258321,NM_001258320,NM_001258324,NM_006034 TP53I11,TP53I11,TP53I11,TP53I11,TP53I11,TP53I11 EXON Missense_G75S,Missense_G75S,Missense_G75S,Missense_G75S,Missense_G75S,Missense_G75S exm902102 11 45117405 [T/C] NR_046338 PRDM11 EXON Silent exm902110 11 45203361 [T/C] NR_046338,NM_001256695,NM_001256696 PRDM11,PRDM11,PRDM11 EXON Silent,Missense_A15V,Missense_A15V exm902115 11 45203382 [T/C] NR_046338,NM_001256695,NM_001256696 PRDM11,PRDM11,PRDM11 EXON Silent,Missense_V22A,Missense_V22A exm902136 11 45204611 [C/G] NR_046338,NM_001256695,NM_001256696 PRDM11,PRDM11,PRDM11 EXON Silent,Missense_I141M,Missense_I141M exm902139 11 45226271 [A/G] NR_046338,NM_001256695,NM_001256696 PRDM11,PRDM11,PRDM11 EXON Silent,Missense_K166E,Missense_K166E exm902144 11 45241135 [C/G] NR_046338,NM_001256695,NM_001256696 PRDM11,PRDM11,PRDM11 EXON Silent,Missense_S190C,Missense_S190C exm902152 11 45241245 [A/G] NR_046338,NM_001256695,NM_001256696 PRDM11,PRDM11,PRDM11 EXON Silent,Missense_E227K,Missense_E227K exm2218591 11 45245770 [A/G] NR_046338,NM_001256695,NM_001256696 PRDM11,PRDM11,PRDM11 EXON Silent,Missense_E249K,Missense_E249K exm902154 11 45245778 [T/G] NR_046338,NM_001256695,NM_001256696 PRDM11,PRDM11,PRDM11 EXON Silent,Missense_R251S,Missense_R251S exm902156 11 45245790 [G/C] NR_046338,NM_001256695,NM_001256696 PRDM11,PRDM11,PRDM11 EXON Silent,Missense_E255D,Missense_E255D exm902160 11 45245841 [A/T] NR_046338,NM_001256695,NM_001256696 PRDM11,PRDM11,PRDM11 EXON Silent,Missense_H272Q,Missense_H272Q exm902182 11 45246420 [T/G] NR_046338,NM_001256695,NM_001256696 PRDM11,PRDM11,PRDM11 EXON Silent,Silent,Missense_L465F exm902183 11 45246422 [T/C] NR_046338,NM_001256695,NM_001256696 PRDM11,PRDM11,PRDM11 EXON Silent,Silent,Missense_S466L exm902184 11 45246437 [A/G] NR_046338,NM_001256695,NM_001256696 PRDM11,PRDM11,PRDM11 EXON Silent,Silent,Missense_R471H exm-rs2863174 11 45264277 [T/C] NM_020826,NM_001247987 SYT13,SYT13 EXON Silent,Silent exm902191 11 45265640 [T/C] NM_020826,NM_001247987 SYT13,SYT13 EXON Missense_R415H,Missense_R271H exm902197 11 45265718 [A/G] NM_020826,NM_001247987 SYT13,SYT13 EXON Missense_A389V,Missense_A245V exm902203 11 45265845 [A/G] NM_020826,NM_001247987 SYT13,SYT13 EXON Nonsense_R347X,Nonsense_R203X exm902231 11 45274212 [A/C] NM_020826,NM_001247987 SYT13,SYT13 EXON Missense_R202S,Missense_R58S exm902232 11 45274235 [T/C] NM_020826,NM_001247987 SYT13,SYT13 EXON Missense_V195I,Missense_V51I exm902239 11 45277255 [A/C] NM_020826,NM_001247987 SYT13,SYT13 EXON Missense_R124M,Silent exm2249869 11 45277275 [T/C] NM_020826,NM_001247987 SYT13,SYT13 EXON Synonymous_P117P,Silent exm902254 11 45307634 [T/C] NM_020826,NM_001247987 SYT13,SYT13 EXON Missense_R42Q,Silent exm2267175 11 45540603 [A/G] exm2249871 11 45671241 [C/G] NM_003654 CHST1 EXON Synonymous_S411S exm902274 11 45671452 [A/G] NM_003654 CHST1 EXON Missense_T341I exm902280 11 45671653 [A/G] NM_003654 CHST1 EXON Missense_T274M exm902297 11 45672230 [A/G] NM_003654 CHST1 EXON Nonsense_Q82X exm-rs2593727 11 45724222 [A/G] exm2249873 11 45757401 [T/C] exm902317 11 45827578 [A/G] NM_001145265,NM_001145266,NM_018389 SLC35C1,SLC35C1,SLC35C1 EXON Missense_V63I,Missense_V63I,Missense_V76I exm902321 11 45827606 [T/C] NM_001145265,NM_001145266,NM_018389 SLC35C1,SLC35C1,SLC35C1 EXON Missense_T72M,Missense_T72M,Missense_T85M exm902327 11 45827886 [T/C] NM_001145265,NM_001145266,NM_018389 SLC35C1,SLC35C1,SLC35C1 EXON Synonymous_I165I,Synonymous_I165I,Synonymous_I178I exm902332 11 45832389 [A/G] NM_001145265,NM_001145266,NM_018389 SLC35C1,SLC35C1,SLC35C1 EXON Missense_V187I,Missense_V187I,Missense_V200I exm902337 11 45832497 [A/G] NM_001145265,NM_001145266,NM_018389 SLC35C1,SLC35C1,SLC35C1 EXON Missense_V223I,Missense_V223I,Missense_V236I exm902339 11 45832509 [A/G] NM_001145265,NM_001145266,NM_018389 SLC35C1,SLC35C1,SLC35C1 EXON Missense_I227V,Missense_I227V,Missense_I240V exm902341 11 45832539 [A/G] NM_001145265,NM_001145266,NM_018389 SLC35C1,SLC35C1,SLC35C1 EXON Missense_G237R,Missense_G237R,Missense_G250R exm902350 11 45832716 [A/G] NM_001145265,NM_001145266,NM_018389 SLC35C1,SLC35C1,SLC35C1 EXON Missense_V296M,Missense_V296M,Missense_V309M exm902356 11 45832845 [T/C] NM_001145265,NM_001145266,NM_018389 SLC35C1,SLC35C1,SLC35C1 EXON Missense_P339S,Missense_P339S,Missense_P352S exm902357 11 45832846 [A/C] NM_001145265,NM_001145266,NM_018389 SLC35C1,SLC35C1,SLC35C1 EXON Missense_P339H,Missense_P339H,Missense_P352H exm1710765 11 45868997 [T/G] NM_001127457,NM_021117 CRY2,CRY2 EXON Silent,Missense_A7S exm902362 11 45869013 [A/C] NM_001127457,NM_021117 CRY2,CRY2 EXON Silent,Missense_A12E exm-rs11605924 11 45873091 [A/C] NM_001127457,NM_021117 CRY2,CRY2 Silent,Silent exm-rs7945565 11 45878992 [A/G] NM_001127457,NM_021117 CRY2,CRY2 Silent,Silent exm902384 11 45882464 [A/G] NM_001127457,NM_021117 CRY2,CRY2 EXON Missense_R117H,Missense_R199H exm902430 11 45892068 [T/C] NM_001127457,NM_021117 CRY2,CRY2 EXON Missense_R451C,Missense_R533C exm902443 11 45893769 [A/G] NM_001127457,NM_021117 CRY2,CRY2 EXON Missense_S529N,Missense_S611N exm902459 11 45923929 [A/C] NM_005456 MAPK8IP1 EXON Missense_Q204P exm902473 11 45924057 [T/C] NM_005456 MAPK8IP1 EXON Missense_P247S exm902476 11 45924145 [A/T] NM_005456 MAPK8IP1 EXON Missense_E276V exm902479 11 45924210 [A/G] NM_005456 MAPK8IP1 EXON Missense_A298T exm902480 11 45924217 [T/C] NM_005456 MAPK8IP1 EXON Missense_L300P exm902484 11 45924267 [A/G] NM_005456 MAPK8IP1 EXON Missense_A317T exm902486 11 45924283 [T/C] NM_005456 MAPK8IP1 EXON Missense_A322V exm902522 11 45925682 [A/G] NM_005456 MAPK8IP1 EXON Missense_E546K exm902541 11 45926740 [A/G] NM_005456 MAPK8IP1 EXON Missense_R668Q exm902553 11 45928161 [T/C] NM_001080446 C11orf94 EXON Missense_G86R exm902556 11 45928209 [A/G] NM_001080446 C11orf94 EXON Nonsense_R70X exm902558 11 45928230 [A/G] NM_001080446 C11orf94 EXON Missense_L63F exm902564 11 45928449 [A/C] NM_001080446 C11orf94 EXON Missense_L49R exm902566 11 45928462 [T/C] NM_001080446 C11orf94 EXON Missense_A45T exm902574 11 45928739 [A/G] NM_001080446 C11orf94 EXON Missense_H20Y exm902577 11 45928769 [A/G] NM_001080446 C11orf94 EXON Missense_H10Y exm902584 11 45931647 [T/G] NM_004813,NM_057174 PEX16,PEX16 EXON Silent,Missense_H345P exm902587 11 45931671 [A/G] NM_004813,NM_057174 PEX16,PEX16 EXON Silent,Missense_S337L exm902588 11 45931698 [A/G] NM_004813,NM_057174 PEX16,PEX16 EXON Silent,Missense_P328L exm2271606 11 45934697 [T/G] NM_004813,NM_057174 PEX16,PEX16 Silent,Silent exm902614 11 45935689 [C/G] NM_004813,NM_057174 PEX16,PEX16 EXON Missense_V254L,Missense_V254L exm1710869 11 45935926 [C/G] NM_004813,NM_057174 PEX16,PEX16 EXON Missense_P212R,Missense_P212R exm902628 11 45936018 [T/C] NM_004813,NM_057174 PEX16,PEX16 EXON Synonymous_T181T,Synonymous_T181T exm902635 11 45936235 [T/C] NM_004813,NM_057174 PEX16,PEX16 EXON Missense_D154G,Missense_D154G exm902645 11 45937306 [T/C] NM_004813,NM_057174 PEX16,PEX16 EXON Missense_V103M,Missense_V103M exm902649 11 45937386 [A/G] NM_004813,NM_057174 PEX16,PEX16 EXON Missense_S76L,Missense_S76L exm902650 11 45937799 [A/C] NM_004813,NM_057174 PEX16,PEX16 EXON Missense_E68D,Missense_E68D exm902661 11 45944542 [A/G] NM_152312 GYLTL1B EXON Missense_E37K exm902668 11 45945063 [A/T] NM_152312 GYLTL1B EXON Missense_S109C exm902671 11 45945718 [T/C] NM_152312 GYLTL1B EXON Missense_H128Y exm902681 11 45946079 [A/G] NM_152312 GYLTL1B EXON Missense_N172S exm902690 11 45947591 [T/G] NM_152312 GYLTL1B EXON Synonymous_G257G exm902697 11 45947819 [A/G] NM_152312 GYLTL1B EXON Missense_R310H exm902698 11 45947827 [T/C] NM_152312 GYLTL1B EXON Missense_C313R exm902700 11 45947870 [A/G] NM_152312 GYLTL1B EXON Missense_R327H exm902711 11 45948125 [G/C] NM_152312 GYLTL1B EXON Missense_Q381E exm902713 11 45948138 [G/C] NM_152312 GYLTL1B EXON Missense_G385A exm902717 11 45948307 [A/G] NM_152312 GYLTL1B EXON Missense_E404K exm902720 11 45948362 [A/G] NM_152312 GYLTL1B EXON Missense_H422R exm2218608 11 45948363 [A/T] NM_152312 GYLTL1B EXON Missense_H422Q exm902721 11 45948368 [T/C] NM_152312 GYLTL1B EXON Missense_P424L exm902727 11 45948889 [A/G] NM_152312 GYLTL1B EXON Missense_C450Y exm902728 11 45948899 [A/G] NM_152312 GYLTL1B EXON Nonsense_W453X exm902731 11 45948936 [A/G] NM_152312 GYLTL1B EXON Missense_A466T exm902740 11 45949014 [A/G] NM_152312 GYLTL1B EXON Missense_V492M exm1710913 11 45949072 [A/G] NM_152312 GYLTL1B EXON Missense_Q511R exm902753 11 45949502 [T/C] NM_152312 GYLTL1B EXON Missense_R546W exm902759 11 45949565 [T/C] NM_152312 GYLTL1B EXON Missense_H567Y exm902762 11 45949745 [A/G] NM_152312 GYLTL1B EXON Missense_R591Q exm902773 11 45949867 [T/C] NM_152312 GYLTL1B EXON Missense_R632C exm902777 11 45949903 [A/G] NM_152312 GYLTL1B EXON Missense_I644V exm902785 11 45950259 [T/C] NM_152312 GYLTL1B EXON Missense_R677C exm1710925 11 45950260 [A/G] NM_152312 GYLTL1B EXON Missense_R677H exm902802 11 45955550 [A/G] NM_001101802,NM_016621 PHF21A,PHF21A EXON Missense_A671V,Missense_A625V exm902820 11 45955752 [T/C] NM_001101802,NM_016621 PHF21A,PHF21A EXON Missense_I604V,Missense_I558V exm902825 11 45957290 [T/G] NM_001101802,NM_016621 PHF21A,PHF21A EXON Missense_A561E,Missense_A515E exm902830 11 45959836 [T/C] NM_001101802,NM_016621 PHF21A,PHF21A EXON Missense_V493I,Missense_V447I exm902843 11 45975130 [T/C] NM_001101802,NM_016621 PHF21A,PHF21A EXON Missense_R347H,Missense_R348H exm902847 11 45986887 [T/G] NM_001101802,NM_016621 PHF21A,PHF21A EXON Missense_S324R,Missense_S325R exm902849 11 45986913 [T/C] NM_001101802,NM_016621 PHF21A,PHF21A EXON Missense_A316T,Missense_A317T exm902868 11 46001327 [T/C] NM_001101802,NM_016621 PHF21A,PHF21A EXON Missense_N115S,Missense_N115S exm-rs16938437 11 46052575 [T/C] NM_001101802,NM_016621 PHF21A,PHF21A Silent,Silent exm-rs10437653 11 46297631 [A/C] exm-rs12280680 11 46300722 [A/G] NM_052854 CREB3L1 Silent exm2267176 11 46304338 [A/G] NM_052854 CREB3L1 Silent exm902889 11 46321657 [A/G] NM_052854 CREB3L1 EXON Missense_G92S exm902891 11 46321667 [T/C] NM_052854 CREB3L1 EXON Missense_A95V exm902901 11 46331546 [A/G] NM_052854 CREB3L1 EXON Missense_G175R exm902903 11 46332586 [A/T] NM_052854 CREB3L1 EXON Missense_D200V exm902910 11 46332703 [T/C] NM_052854 CREB3L1 EXON Missense_T239M exm902925 11 46337910 [A/G] NM_052854 CREB3L1 EXON Missense_A369T exm902926 11 46337922 [A/G] NM_052854 CREB3L1 EXON Missense_G373R exm902934 11 46339011 [A/G] NM_052854 CREB3L1 EXON Missense_A411T exm902938 11 46341889 [A/G] NM_052854 CREB3L1 EXON Missense_M445V exm902953 11 46342283 [T/G] NM_052854 CREB3L1 EXON Missense_I516S exm902960 11 46367120 [A/G] NM_201532,NM_201533 DGKZ,DGKZ EXON Silent,Missense_E54G exm-rs11038871 11 46379442 [T/C] NM_201532,NM_201533,NM_001199267,NM_001199266,NM_001199268,NM_003646 DGKZ,DGKZ,DGKZ,DGKZ,DGKZ,DGKZ Silent,Silent,Silent,Silent,Silent,Silent exm902973 11 46387835 [A/G] NM_201532,NM_201533,NM_001199267,NM_001199266,NM_001199268,NM_003646,NM_001105540 DGKZ,DGKZ,DGKZ,DGKZ,DGKZ,DGKZ,DGKZ EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_R10Q exm902974 11 46387843 [A/G] NM_201532,NM_201533,NM_001199267,NM_001199266,NM_001199268,NM_003646,NM_001105540 DGKZ,DGKZ,DGKZ,DGKZ,DGKZ,DGKZ,DGKZ EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_V13M exm902975 11 46387852 [G/C] NM_201532,NM_201533,NM_001199267,NM_001199266,NM_001199268,NM_003646,NM_001105540 DGKZ,DGKZ,DGKZ,DGKZ,DGKZ,DGKZ,DGKZ EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_P16A exm902976 11 46387868 [A/G] NM_201532,NM_201533,NM_001199267,NM_001199266,NM_001199268,NM_003646,NM_001105540 DGKZ,DGKZ,DGKZ,DGKZ,DGKZ,DGKZ,DGKZ EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_Q21R exm903000 11 46388237 [T/C] NM_201532,NM_201533,NM_001199267,NM_001199266,NM_001199268,NM_003646,NM_001105540 DGKZ,DGKZ,DGKZ,DGKZ,DGKZ,DGKZ,DGKZ EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_P144L exm903003 11 46388375 [A/G] NM_201532,NM_201533,NM_001199267,NM_001199266,NM_001199268,NM_003646,NM_001105540 DGKZ,DGKZ,DGKZ,DGKZ,DGKZ,DGKZ,DGKZ EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_R190Q exm903016 11 46388881 [A/C] NM_201532,NM_201533,NM_001199267,NM_001199266,NM_001199268,NM_003646,NM_001105540 DGKZ,DGKZ,DGKZ,DGKZ,DGKZ,DGKZ,DGKZ EXON Missense_P85T,Missense_P73T,Missense_P68T,Missense_P68T,Missense_P68T,Missense_P68T,Missense_P257T exm903022 11 46388933 [A/G] NM_201532,NM_201533,NM_001199267,NM_001199266,NM_001199268,NM_003646,NM_001105540 DGKZ,DGKZ,DGKZ,DGKZ,DGKZ,DGKZ,DGKZ EXON Missense_S102N,Missense_S90N,Missense_S85N,Missense_S85N,Missense_S85N,Missense_S85N,Missense_S274N exm903046 11 46391525 [A/G] NM_201532,NM_201533,NM_001199267,NM_001199266,NM_001199268,NM_003646,NM_001105540 DGKZ,DGKZ,DGKZ,DGKZ,DGKZ,DGKZ,DGKZ EXON Missense_R195Q,Missense_R183Q,Missense_R178Q,Missense_R179Q,Silent,Missense_R179Q,Missense_R367Q exm903135 11 46400041 [A/C] NM_201532,NM_201533,NM_001199267,NM_001199266,NM_001199268,NM_003646,NM_001105540 DGKZ,DGKZ,DGKZ,DGKZ,DGKZ,DGKZ,DGKZ EXON Missense_D819E,Missense_D807E,Missense_D802E,Missense_D803E,Missense_D780E,Missense_D803E,Missense_D991E exm903158 11 46401108 [C/G] NM_201532,NM_201533,NM_001199267,NM_001199266,NM_001199268,NM_003646,NM_001105540 DGKZ,DGKZ,DGKZ,DGKZ,DGKZ,DGKZ,DGKZ EXON Missense_T904R,Missense_T892R,Missense_T887R,Missense_T893R,Missense_T865R,Missense_T888R,Missense_T1076R exm903182 11 46406715 [A/G] NM_000741 CHRM4 EXON Missense_R465W exm903200 11 46407071 [A/G] NM_000741 CHRM4 EXON Missense_T346M exm903215 11 46407348 [T/C] NM_000741 CHRM4 EXON Missense_V254I exm903220 11 46407414 [T/C] NM_000741 CHRM4 EXON Missense_E232K exm903233 11 46408022 [A/G] NM_000741 CHRM4 EXON Missense_T29M exm903262 11 46419263 [A/G] NM_001267783,NM_001267782,NM_017749 AMBRA1,AMBRA1,AMBRA1 EXON Missense_R1093W,Missense_R1215W,Missense_R1122W exm903271 11 46419457 [A/G] NM_001267783,NM_001267782,NM_017749 AMBRA1,AMBRA1,AMBRA1 EXON Missense_A1028V,Missense_A1150V,Missense_A1057V exm903274 11 46430081 [A/C] NM_001267783,NM_001267782,NM_017749 AMBRA1,AMBRA1,AMBRA1 EXON Missense_A1010S,Missense_A1132S,Missense_A1039S exm903276 11 46430254 [A/G] NM_001267783,NM_001267782,NM_017749 AMBRA1,AMBRA1,AMBRA1 EXON Missense_T952I,Missense_T1074I,Missense_T981I exm903289 11 46455146 [T/C] NM_001267783,NM_001267782,NM_017749 AMBRA1,AMBRA1,AMBRA1 EXON Missense_M833V,Missense_M955V,Missense_M862V exm903308 11 46515749 [T/C] NM_001267783,NM_001267782,NM_017749 AMBRA1,AMBRA1,AMBRA1 EXON Missense_N663S,Missense_N785S,Missense_N692S exm903310 11 46529763 [T/C] NM_001267783,NM_001267782,NM_017749 AMBRA1,AMBRA1,AMBRA1 EXON Missense_D654N,Missense_D776N,Missense_D683N exm903324 11 46563795 [T/C] NM_001267783,NM_001267782,NM_017749 AMBRA1,AMBRA1,AMBRA1 EXON Missense_Y501C,Missense_Y501C,Missense_Y501C exm903332 11 46564032 [T/C] NM_001267783,NM_001267782,NM_017749 AMBRA1,AMBRA1,AMBRA1 EXON Missense_R422Q,Missense_R422Q,Missense_R422Q exm903334 11 46564053 [T/C] NM_001267783,NM_001267782,NM_017749 AMBRA1,AMBRA1,AMBRA1 EXON Missense_R415H,Missense_R415H,Missense_R415H exm903342 11 46564236 [A/G] NM_001267783,NM_001267782,NM_017749 AMBRA1,AMBRA1,AMBRA1 EXON Missense_S354L,Missense_S354L,Missense_S354L exm903345 11 46564272 [A/G] NM_001267783,NM_001267782,NM_017749 AMBRA1,AMBRA1,AMBRA1 EXON Missense_A342V,Missense_A342V,Missense_A342V exm903362 11 46564927 [G/C] NM_001267783,NM_001267782,NM_017749 AMBRA1,AMBRA1,AMBRA1 EXON Missense_P214A,Missense_P214A,Missense_P214A exm903373 11 46568808 [T/C] NM_001267783,NM_001267782,NM_017749 AMBRA1,AMBRA1,AMBRA1 EXON Missense_Y78C,Missense_Y78C,Missense_Y78C exm903395 11 46625450 [A/G] NM_173811 HARBI1 EXON Missense_S227F exm903398 11 46637195 [T/C] NM_173811 HARBI1 EXON Missense_Q198R exm903401 11 46637245 [T/G] NM_173811 HARBI1 EXON Missense_D181E exm903402 11 46637286 [A/G] NM_173811 HARBI1 EXON Nonsense_R168X exm903405 11 46637381 [T/C] NM_173811 HARBI1 EXON Missense_Y136C exm903413 11 46637543 [A/G] NM_173811 HARBI1 EXON Missense_S82L exm903420 11 46665854 [C/G] NM_001142673,NM_001205121,NM_001205122,NM_001205119,NM_014741,NM_001205120 ATG13,ATG13,ATG13,ATG13,ATG13,ATG13 EXON Missense_L5V,Missense_L5V,Silent,Missense_L5V,Missense_L5V,Missense_L5V exm903424 11 46666938 [A/G] NM_001142673,NM_001205121,NM_001205122,NM_001205119,NM_014741,NM_001205120 ATG13,ATG13,ATG13,ATG13,ATG13,ATG13 EXON Missense_R40H,Missense_R40H,Silent,Missense_R40H,Missense_R40H,Missense_R40H exm903438 11 46671756 [T/C] NM_001142673,NM_001205121,NM_001205122,NM_001205119,NM_014741,NM_001205120 ATG13,ATG13,ATG13,ATG13,ATG13,ATG13 EXON Missense_T116M,Missense_T116M,Missense_T37M,Missense_T116M,Missense_T116M,Missense_T116M exm903440 11 46671800 [A/G] NM_001142673,NM_001205121,NM_001205122,NM_001205119,NM_014741,NM_001205120 ATG13,ATG13,ATG13,ATG13,ATG13,ATG13 EXON Missense_I131V,Missense_I131V,Missense_I52V,Missense_I131V,Missense_I131V,Missense_I131V exm1711255 11 46680974 [T/C] NM_001142673,NM_001205121,NM_001205122,NM_001205119,NM_014741,NM_001205120 ATG13,ATG13,ATG13,ATG13,ATG13,ATG13 EXON Missense_P243L,Missense_P243L,Missense_P164L,Missense_P243L,Missense_P243L,Missense_P243L exm903458 11 46680992 [A/C] NM_001142673,NM_001205121,NM_001205122,NM_001205119,NM_014741,NM_001205120 ATG13,ATG13,ATG13,ATG13,ATG13,ATG13 EXON Missense_Q249P,Missense_Q249P,Missense_Q170P,Missense_Q249P,Missense_Q249P,Missense_Q249P exm903459 11 46681016 [T/C] NM_001142673,NM_001205121,NM_001205122,NM_001205119,NM_014741,NM_001205120 ATG13,ATG13,ATG13,ATG13,ATG13,ATG13 EXON Missense_S257F,Missense_S257F,Missense_S178F,Missense_S257F,Missense_S257F,Missense_S257F exm903473 11 46689360 [T/C] NM_001142673,NM_001205121,NM_001205122,NM_001205119,NM_014741,NM_001205120 ATG13,ATG13,ATG13,ATG13,ATG13,ATG13 EXON Missense_R359W,Missense_R322W,Missense_R243W,Missense_R392W,Missense_R322W,Missense_R359W exm903474 11 46689363 [A/G] NM_001142673,NM_001205121,NM_001205122,NM_001205119,NM_014741,NM_001205120 ATG13,ATG13,ATG13,ATG13,ATG13,ATG13 EXON Missense_A360T,Missense_A323T,Missense_A244T,Missense_A393T,Missense_A323T,Missense_A360T exm903480 11 46689424 [A/G] NM_001142673,NM_001205121,NM_001205122,NM_001205119,NM_014741,NM_001205120 ATG13,ATG13,ATG13,ATG13,ATG13,ATG13 EXON Missense_K380R,Missense_K343R,Missense_K264R,Missense_K413R,Missense_K343R,Missense_K380R exm903482 11 46690056 [T/C] NM_001142673,NM_001205121,NM_001205122,NM_001205119,NM_014741,NM_001205120 ATG13,ATG13,ATG13,ATG13,ATG13,ATG13 EXON Missense_L387P,Missense_L350P,Missense_L271P,Missense_L420P,Missense_L350P,Missense_L387P exm903492 11 46690393 [T/A] NM_001142673,NM_001205121,NM_001205122,NM_001205119,NM_014741,NM_001205120 ATG13,ATG13,ATG13,ATG13,ATG13,ATG13 EXON Missense_L427Q,Missense_L390Q,Missense_L311Q,Missense_L460Q,Missense_L390Q,Missense_L427Q exm903494 11 46690408 [T/C] NM_001142673,NM_001205121,NM_001205122,NM_001205119,NM_014741,NM_001205120 ATG13,ATG13,ATG13,ATG13,ATG13,ATG13 EXON Missense_S432F,Missense_S395F,Missense_S316F,Missense_S465F,Missense_S395F,Missense_S432F exm903495 11 46690413 [A/G] NM_001142673,NM_001205121,NM_001205122,NM_001205119,NM_014741,NM_001205120 ATG13,ATG13,ATG13,ATG13,ATG13,ATG13 EXON Missense_G434R,Missense_G397R,Missense_G318R,Missense_G467R,Missense_G397R,Missense_G434R exm2249880 11 46690986 [A/G] NM_001142673,NM_001205121,NM_001205122,NM_001205119,NM_014741,NM_001205120 ATG13,ATG13,ATG13,ATG13,ATG13,ATG13 EXON Synonymous_P460P,Synonymous_P423P,Synonymous_P344P,Synonymous_P493P,Synonymous_P423P,Synonymous_P460P exm903510 11 46693860 [A/C] NM_001142673,NM_001205121,NM_001205122,NM_001205119,NM_014741,NM_001205120 ATG13,ATG13,ATG13,ATG13,ATG13,ATG13 EXON Missense_A511D,Missense_A474D,Missense_A395D,Missense_A544D,Missense_A474D,Missense_A511D exm2273479 11 46694277 [T/G] NM_001142673,NM_001205121,NM_001205122,NM_001205119,NM_014741,NM_001205120 ATG13,ATG13,ATG13,ATG13,ATG13,ATG13 EXON Silent,Silent,Silent,Silent,Silent,Silent exm2249881 11 46695414 [T/C] NM_001142673,NM_001205121,NM_001205122,NM_001205119,NM_014741,NM_001205120 ATG13,ATG13,ATG13,ATG13,ATG13,ATG13 EXON Silent,Silent,Silent,Silent,Silent,Silent exm903521 11 46700765 [T/C] NM_004308 ARHGAP1 EXON Missense_H381R exm903526 11 46700940 [T/C] NM_004308 ARHGAP1 EXON Missense_R369H exm903527 11 46700941 [A/G] NM_004308 ARHGAP1 EXON Missense_R369C exm903540 11 46701791 [C/G] NM_004308 ARHGAP1 EXON Missense_Q288E exm903543 11 46702070 [A/G] NM_004308 ARHGAP1 EXON Missense_L263F exm903557 11 46702607 [T/C] NM_004308 ARHGAP1 EXON Missense_E197K exm2218623 11 46717234 [A/G] NM_004308 ARHGAP1 EXON Missense_R69W exm903591 11 46722632 [A/G] NM_024741 ZNF408 EXON Missense_K12R exm903592 11 46722685 [C/G] NM_024741,NM_001184751 ZNF408,ZNF408 EXON Silent,Missense_G8R exm903599 11 46723022 [C/G] NM_024741,NM_001184751 ZNF408,ZNF408 EXON Missense_D42E,Missense_D34E exm903603 11 46723095 [C/G] NM_024741,NM_001184751 ZNF408,ZNF408 EXON Missense_L67V,Missense_L59V exm903616 11 46724598 [T/C] NM_024741,NM_001184751 ZNF408,ZNF408 EXON Missense_L153F,Missense_L145F exm903624 11 46725939 [A/G] NM_024741,NM_001184751 ZNF408,ZNF408 EXON Missense_E230G,Missense_E222G exm903627 11 46725993 [A/G] NM_024741,NM_001184751 ZNF408,ZNF408 EXON Missense_D248G,Missense_D240G exm903635 11 46726260 [G/C] NM_024741,NM_001184751 ZNF408,ZNF408 EXON Missense_R337P,Missense_R329P exm903642 11 46726364 [A/G] NM_024741,NM_001184751 ZNF408,ZNF408 EXON Missense_A372T,Missense_A364T exm903674 11 46727139 [C/G] NM_024741,NM_001184751 ZNF408,ZNF408 EXON Missense_R630P,Missense_R622P exm903681 11 46727333 [A/G] NM_024741,NM_001184751 ZNF408,ZNF408 EXON Missense_A695T,Missense_A687T exm903686 11 46727375 [A/G] NM_024741,NM_001184751 ZNF408,ZNF408 EXON Missense_A709T,Missense_A701T exm903687 11 46727387 [A/G] NM_024741,NM_001184751 ZNF408,ZNF408 EXON Missense_V713M,Missense_V705M exm903699 11 46741363 [T/C] NM_000506 F2 EXON Missense_T64M exm-rs3136441 11 46743247 [T/C] NM_000506 F2 Silent exm903711 11 46744784 [A/G] NM_000506 F2 EXON Missense_R124Q exm903717 11 46745003 [T/C] NM_000506 F2 EXON Missense_T165M exm903722 11 46747441 [T/C] NM_000506 F2 EXON Missense_R198C exm903723 11 46747447 [A/G] NM_000506 F2 EXON Missense_E200K exm903725 11 46747555 [A/G] NM_000506 F2 EXON Missense_A236T exm1711404 11 46747663 [A/G] NM_000506 F2 EXON Missense_V272M exm903736 11 46748178 [T/G] NM_000506 F2 Silent exm903762 11 46750998 [A/G] NM_000506 F2 EXON Missense_N514S exm903763 11 46750999 [A/C] NM_000506 F2 EXON Missense_N514K exm903765 11 46751085 [T/G] NM_000506 F2 EXON Missense_R543L exm903773 11 46760946 [A/G] NM_000506 F2 EXON Synonymous_Q619Q exm2249884 11 46760946 [A/G] NM_000506 F2 EXON Synonymous_Q619Q exm903784 11 46766091 [A/G] NM_001008938,NM_014756 CKAP5,CKAP5 EXON Missense_T1914M,Missense_T1854M exm903817 11 46780903 [T/C] NM_001008938,NM_014756 CKAP5,CKAP5 EXON Missense_N1495S,Missense_N1495S exm903818 11 46780979 [T/C] NM_001008938,NM_014756 CKAP5,CKAP5 EXON Missense_M1470V,Missense_M1470V exm903822 11 46782240 [A/G] NM_001008938,NM_014756 CKAP5,CKAP5 EXON Missense_P1439L,Missense_P1439L exm903847 11 46786806 [T/A] NM_001008938,NM_014756 CKAP5,CKAP5 EXON Missense_S1138C,Missense_S1138C exm903856 11 46792501 [A/G] NM_001008938,NM_014756 CKAP5,CKAP5 EXON Missense_T1008I,Missense_T1008I exm903862 11 46797891 [T/C] NM_001008938,NM_014756 CKAP5,CKAP5 EXON Missense_A969T,Missense_A969T exm903865 11 46797917 [A/G] NM_001008938,NM_014756 CKAP5,CKAP5 EXON Missense_A960V,Missense_A960V exm1711515 11 46799766 [T/C] NM_001008938,NM_014756 CKAP5,CKAP5 EXON Missense_A891T,Missense_A891T exm903872 11 46799780 [C/G] NM_001008938,NM_014756 CKAP5,CKAP5 EXON Missense_G886A,Missense_G886A exm903876 11 46800038 [T/C] NM_001008938,NM_014756 CKAP5,CKAP5 EXON Missense_V849I,Missense_V849I exm903877 11 46800073 [T/C] NM_001008938,NM_014756 CKAP5,CKAP5 EXON Missense_D837G,Missense_D837G exm903879 11 46800122 [T/C] NM_001008938,NM_014756 CKAP5,CKAP5 EXON Missense_T821A,Missense_T821A exm903881 11 46801859 [A/G] NM_001008938,NM_014756 CKAP5,CKAP5 EXON Missense_T773I,Missense_T773I exm1711535 11 46812088 [T/C] NM_001008938,NM_014756 CKAP5,CKAP5 EXON Missense_A566T,Missense_A566T exm903904 11 46812106 [G/C] NM_001008938,NM_014756 CKAP5,CKAP5 EXON Missense_P560A,Missense_P560A exm903912 11 46817323 [T/C] NM_001008938,NM_014756 CKAP5,CKAP5 EXON Missense_K491E,Missense_K491E exm903927 11 46832557 [A/C] NM_001008938,NM_014756 CKAP5,CKAP5 EXON Missense_Q210H,Missense_Q210H exm903944 11 46837932 [A/C] NM_001008938,NM_014756 CKAP5,CKAP5 EXON Missense_G92V,Missense_G92V exm903952 11 46840045 [T/C] NM_001008938,NM_014756 CKAP5,CKAP5 EXON Missense_A23T,Missense_A23T exm-rs1007738 11 46849360 [A/G] NM_001008938,NM_014756 CKAP5,CKAP5 Silent,Silent exm903960 11 46880592 [C/G] NR_038909,NM_002334 LRP4-AS1,LRP4 EXON Silent,Missense_S1887C exm903964 11 46880694 [T/C] NR_038909,NM_002334 LRP4-AS1,LRP4 EXON Silent,Missense_S1853N exm903976 11 46884233 [T/C] NR_038909,NM_002334 LRP4-AS1,LRP4 EXON Silent,Missense_R1770Q exm903982 11 46886060 [T/C] NR_038909,NM_002334 LRP4-AS1,LRP4 EXON Silent,Missense_I1728V exm903983 11 46886077 [A/T] NR_038909,NM_002334 LRP4-AS1,LRP4 EXON Silent,Missense_L1722H exm903993 11 46890165 [T/C] NR_038909,NM_002334 LRP4-AS1,LRP4 EXON Silent,Missense_R1646Q exm904003 11 46890569 [T/C] NR_038909,NM_002334 LRP4-AS1,LRP4 EXON Silent,Missense_I1603V exm904006 11 46890677 [T/A] NR_038909,NM_002334 LRP4-AS1,LRP4 EXON Silent,Missense_R1567W exm904010 11 46893108 [T/C] NR_038909,NM_002334 LRP4-AS1,LRP4 EXON Silent,Missense_S1554G exm904011 11 46893116 [A/C] NR_038909,NM_002334 LRP4-AS1,LRP4 EXON Silent,Missense_V1551G exm904014 11 46893155 [T/C] NR_038909,NM_002334 LRP4-AS1,LRP4 EXON Silent,Missense_R1538Q exm904017 11 46893174 [C/G] NR_038909,NM_002334 LRP4-AS1,LRP4 EXON Silent,Missense_V1532L exm904034 11 46895100 [T/C] NR_038909,NM_002334 LRP4-AS1,LRP4 EXON Silent,Missense_R1425Q exm2218634 11 46895119 [T/C] NR_038909,NM_002334 LRP4-AS1,LRP4 EXON Silent,Missense_M1419V exm904041 11 46896484 [A/G] NM_002334 LRP4 EXON Missense_R1366C exm904048 11 46896636 [A/G] NM_002334 LRP4 EXON Missense_S1315L exm904065 11 46897434 [T/C] NM_002334 LRP4 EXON Missense_N1207S exm904066 11 46897446 [A/G] NM_002334 LRP4 EXON Missense_A1203V exm904073 11 46898146 [T/C] NM_002334 LRP4 EXON Missense_R1136Q exm904081 11 46898771 [T/C] NM_002334 LRP4 EXON Missense_I1086V exm904083 11 46900521 [C/G] NM_002334 LRP4 EXON Missense_G1025R exm904084 11 46900530 [T/C] NM_002334 LRP4 EXON Missense_N1022D exm904127 11 46911911 [T/C] NM_002334 LRP4 EXON Missense_R611H exm904128 11 46911915 [A/G] NM_002334 LRP4 EXON Missense_R610C exm904131 11 46911956 [T/C] NM_002334 LRP4 EXON Missense_H596R exm904132 11 46911974 [T/C] NM_002334 LRP4 EXON Missense_R590H exm904133 11 46911975 [A/G] NM_002334 LRP4 EXON Missense_R590C exm904145 11 46916179 [T/G] NM_002334 LRP4 EXON Missense_N501H exm904153 11 46916311 [A/G] NM_002334 LRP4 EXON Missense_R457C exm904162 11 46916769 [T/C] NM_002334 LRP4 EXON Nonsense_W419X exm904170 11 46917501 [A/G] NM_002334 LRP4 EXON Missense_R373W exm904175 11 46917564 [A/G] NM_002334 LRP4 EXON Missense_R352W exm904180 11 46917812 [T/C] NM_002334 LRP4 EXON Missense_G333R exm904187 11 46917868 [A/G] NM_002334 LRP4 EXON Missense_L314S exm904193 11 46920117 [T/C] NM_002334 LRP4 EXON Missense_R263H exm904200 11 46920526 [T/C] NM_002334 LRP4 EXON Missense_R202H exm904204 11 46920946 [T/C] NM_002334 LRP4 EXON Missense_E180G exm1711650 11 46920980 [T/C] NM_002334 LRP4 EXON Missense_G169S exm904220 11 46921872 [T/C] NM_002334 LRP4 EXON Missense_R86H exm904230 11 46958381 [A/C] NM_001003678,NM_001003677,NM_001003676,NM_024113 C11orf49,C11orf49,C11orf49,C11orf49 EXON Missense_L9I,Missense_L9I,Missense_L9I,Missense_L9I exm2264447 11 46963196 [A/C] NM_001003678,NM_001003677,NM_001003676,NM_024113 C11orf49,C11orf49,C11orf49,C11orf49 Silent,Silent,Silent,Silent exm904235 11 47008768 [A/G] NM_001003678,NM_001003677,NM_001003676,NM_024113 C11orf49,C11orf49,C11orf49,C11orf49 EXON Missense_H19R,Missense_H19R,Missense_H19R,Missense_H19R exm-rs7117404 11 47127153 [A/G] NM_001003678,NM_001003677,NM_001003676,NM_024113 C11orf49,C11orf49,C11orf49,C11orf49 Silent,Silent,Silent,Silent exm904262 11 47178655 [T/C] NM_001003678,NM_001003677,NM_001003676,NM_024113 C11orf49,C11orf49,C11orf49,C11orf49 EXON Missense_S178F,Missense_S178F,Missense_S178F,Missense_S178F exm904263 11 47178670 [A/G] NM_001003678,NM_001003677,NM_001003676,NM_024113 C11orf49,C11orf49,C11orf49,C11orf49 EXON Missense_R183H,Missense_R183H,Missense_R183H,Missense_R183H exm904268 11 47179368 [T/C] NM_001003678,NM_001003677,NM_001003676,NM_024113 C11orf49,C11orf49,C11orf49,C11orf49 EXON Missense_P218S,Missense_P218S,Missense_P218S,Missense_P218S exm904274 11 47179472 [T/C] NM_001003678,NM_001003677,NM_001003676,NM_024113 C11orf49,C11orf49,C11orf49,C11orf49 EXON Synonymous_L252L,Synonymous_L252L,Synonymous_L252L,Synonymous_L252L exm904275 11 47179473 [A/G] NM_001003678,NM_001003677,NM_001003676,NM_024113 C11orf49,C11orf49,C11orf49,C11orf49 EXON Missense_G253R,Missense_G253R,Missense_G253R,Missense_G253R exm904281 11 47182712 [A/C] NM_001003678,NM_001003677,NM_001003676,NM_024113 C11orf49,C11orf49,C11orf49,C11orf49 EXON Missense_D264E,Missense_D264E,Missense_D264E,Missense_D264E exm904285 11 47182742 [G/C] NM_001003678,NM_001003677,NM_001003676,NM_024113 C11orf49,C11orf49,C11orf49,C11orf49 EXON Silent,Silent,Synonymous_L274L,Silent exm904289 11 47182998 [T/C] NM_001003678,NM_001003677,NM_001003676,NM_024113 C11orf49,C11orf49,C11orf49,C11orf49 EXON Silent,Missense_L275F,Silent,Silent exm1711773 11 47183044 [C/G] NM_001003678,NM_001003677,NM_001003676,NM_024113 C11orf49,C11orf49,C11orf49,C11orf49 EXON Silent,Missense_S290W,Silent,Missense_S284W exm904297 11 47185667 [A/G] NM_001003678 C11orf49 EXON Missense_R282Q exm904318 11 47187041 [T/A] NM_032389,NM_001242832 ARFGAP2,ARFGAP2 EXON Missense_S520T,Missense_S492T exm904319 11 47187044 [T/C] NM_032389,NM_001242832 ARFGAP2,ARFGAP2 EXON Missense_G519S,Missense_G491S exm904341 11 47188426 [T/C] NM_032389,NM_001242832 ARFGAP2,ARFGAP2 EXON Missense_R406Q,Missense_R378Q exm1711783 11 47188427 [A/G] NM_032389,NM_001242832 ARFGAP2,ARFGAP2 EXON Missense_R406W,Missense_R378W exm904358 11 47193061 [T/A] NM_032389,NM_001242832 ARFGAP2,ARFGAP2 EXON Missense_K286M,Missense_K258M exm904363 11 47193244 [A/G] NM_032389,NM_001242832 ARFGAP2,ARFGAP2 EXON Synonymous_A260A,Synonymous_A232A exm904382 11 47195375 [A/G] NM_032389,NM_001242832 ARFGAP2,ARFGAP2 EXON Missense_A166V,Missense_A138V exm904398 11 47196821 [T/C] NM_032389,NM_001242832 ARFGAP2,ARFGAP2 EXON Missense_N103S,Missense_N103S exm904410 11 47198147 [A/G] NM_032389,NM_001242832 ARFGAP2,ARFGAP2 EXON Synonymous_A37A,Synonymous_A37A exm904419 11 47199546 [T/C] NM_001184974,NM_016223,NM_001184975 PACSIN3,PACSIN3,PACSIN3 EXON Missense_G404D,Missense_G404D,Missense_G404D exm904422 11 47199997 [T/C] NM_001184974,NM_016223,NM_001184975 PACSIN3,PACSIN3,PACSIN3 EXON Missense_R360Q,Missense_R360Q,Missense_R360Q exm904433 11 47200745 [T/C] NM_001184974,NM_016223,NM_001184975 PACSIN3,PACSIN3,PACSIN3 EXON Missense_G289R,Missense_G289R,Missense_G289R exm904435 11 47200766 [A/G] NM_001184974,NM_016223,NM_001184975 PACSIN3,PACSIN3,PACSIN3 EXON Missense_R282C,Missense_R282C,Missense_R282C exm904443 11 47201041 [T/C] NM_001184974,NM_016223,NM_001184975 PACSIN3,PACSIN3,PACSIN3 EXON Missense_A234T,Missense_A234T,Missense_A234T exm904446 11 47201115 [A/G] NM_001184974,NM_016223,NM_001184975 PACSIN3,PACSIN3,PACSIN3 EXON Missense_T209M,Missense_T209M,Missense_T209M exm904450 11 47201769 [A/G] NM_001184974,NM_016223,NM_001184975 PACSIN3,PACSIN3,PACSIN3 EXON Missense_R191W,Missense_R191W,Missense_R191W exm904473 11 47202185 [A/G] NM_001184974,NM_016223,NM_001184975 PACSIN3,PACSIN3,PACSIN3 EXON Missense_R90W,Missense_R90W,Missense_R90W exm904482 11 47203983 [A/G] NM_001184974,NM_016223,NM_001184975 PACSIN3,PACSIN3,PACSIN3 EXON Missense_A61V,Missense_A61V,Missense_A61V exm904496 11 47204260 [T/C] NM_001184974,NM_016223,NM_001184975 PACSIN3,PACSIN3,PACSIN3 EXON Missense_A7T,Missense_A7T,Missense_A7T exm904502 11 47236766 [A/C] NM_000107 DDB2 EXON Missense_P27T exm904511 11 47238425 [T/G] NM_000107 DDB2 EXON Missense_F94C exm1711860 11 47254419 [G/C] NM_000107 DDB2 EXON Missense_Q171E exm1711861 11 47254482 [T/C] NM_000107 DDB2 EXON Nonsense_R192X exm904526 11 47256195 [T/C] NM_000107 DDB2 EXON Missense_V225A exm904548 11 47259484 [A/G] NM_000107 DDB2 EXON Missense_V374M exm904552 11 47259728 [A/G] NM_000107 DDB2 EXON Missense_A410T exm904562 11 47261762 [A/G] NM_001610 ACP2 EXON Missense_F393L exm904572 11 47264353 [C/G] NM_001610 ACP2 EXON Missense_D353E exm904575 11 47264396 [A/G] NM_001610 ACP2 EXON Missense_P339L exm904576 11 47264405 [A/G] NM_001610 ACP2 EXON Missense_A336V exm904583 11 47266309 [A/G] NM_001610 ACP2 EXON Missense_A250V exm904585 11 47266336 [T/C] NM_001610 ACP2 EXON Missense_R241H exm904591 11 47266414 [T/G] NM_001610 ACP2 EXON Missense_T215K exm904611 11 47267375 [T/C] NM_001610,NM_001131064 ACP2,ACP2 EXON Missense_R103Q,Missense_R103Q exm904622 11 47269671 [C/G] NM_001610,NM_001131064 ACP2,ACP2 EXON Missense_G43A,Missense_G43A exm904624 11 47270255 [T/C] NM_001610,NM_001131064,NM_001251934,NM_001251935 ACP2,ACP2,NR1H3,NR1H3 EXON Missense_R29Q,Missense_R29Q,Silent,Silent exm904626 11 47270313 [A/G] NM_001610,NM_001131064,NM_001251934,NM_001251935 ACP2,ACP2,NR1H3,NR1H3 EXON Missense_R10W,Missense_R10W,Silent,Silent exm904641 11 47281453 [T/G] NM_001251934,NM_001251935,NM_001130102,NM_005693,NM_001130101 NR1H3,NR1H3,NR1H3,NR1H3,NR1H3 EXON Missense_G58V,Missense_G58V,Missense_G7V,Missense_G52V,Missense_G52V exm904644 11 47281965 [T/C] NM_001251934,NM_001251935,NM_001130102,NM_005693,NM_001130101 NR1H3,NR1H3,NR1H3,NR1H3,NR1H3 EXON Missense_R86C,Missense_R86C,Missense_R35C,Missense_R80C,Missense_R80C exm904650 11 47282112 [A/G] NM_001251934,NM_001251935,NM_001130102,NM_005693,NM_001130101 NR1H3,NR1H3,NR1H3,NR1H3,NR1H3 EXON Missense_G135R,Missense_G135R,Missense_G84R,Missense_G129R,Missense_G129R exm904662 11 47282929 [A/G] NM_001251934,NM_001251935,NM_001130102,NM_005693,NM_001130101 NR1H3,NR1H3,NR1H3,NR1H3,NR1H3 EXON Missense_M219V,Missense_M219V,Missense_M168V,Missense_M213V,Missense_M213V exm-rs7120118 11 47286290 [T/C] NM_001251934,NM_001251935,NM_001130102,NM_005693,NM_001130101 NR1H3,NR1H3,NR1H3,NR1H3,NR1H3 Silent,Silent,Silent,Silent,Silent exm904684 11 47289484 [A/C] NM_001251934,NM_001251935,NM_001130102,NM_005693,NM_001130101 NR1H3,NR1H3,NR1H3,NR1H3,NR1H3 EXON Missense_N343H,Missense_N343H,Missense_N292H,Missense_N337H,Missense_N277H exm1711939 11 47289906 [A/T] NM_001251934,NM_001251935,NM_001130102,NM_005693,NM_001130101 NR1H3,NR1H3,NR1H3,NR1H3,NR1H3 EXON Missense_H405Q,Missense_H405Q,Missense_H354Q,Missense_H399Q,Missense_H339Q exm904695 11 47290147 [A/G] NM_001251934,NM_001251935,NM_001130102,NM_005693,NM_001130101 NR1H3,NR1H3,NR1H3,NR1H3,NR1H3 EXON Missense_R421Q,Missense_R421Q,Missense_R370Q,Missense_R415Q,Missense_R355Q exm904701 11 47290222 [G/C] NM_001251934,NM_001251935,NM_001130102,NM_005693,NM_001130101 NR1H3,NR1H3,NR1H3,NR1H3,NR1H3 EXON Missense_S446C,Missense_S446C,Missense_S395C,Missense_S440C,Missense_S380C exm2271498 11 47290984 [T/G] NM_130470 MADD EXON Silent exm904707 11 47296182 [A/C] NM_130470,NM_130474,NM_001135944,NM_130473,NM_003682,NM_130472,NM_130471,NM_001135943,NM_130476,NM_130475 MADD,MADD,MADD,MADD,MADD,MADD,MADD,MADD,MADD,MADD EXON Missense_T44N,Missense_T44N,Missense_T44N,Missense_T44N,Missense_T44N,Missense_T44N,Missense_T44N,Missense_T44N,Missense_T44N,Missense_T44N exm904712 11 47296269 [A/G] NM_130470,NM_130474,NM_001135944,NM_130473,NM_003682,NM_130472,NM_130471,NM_001135943,NM_130476,NM_130475 MADD,MADD,MADD,MADD,MADD,MADD,MADD,MADD,MADD,MADD EXON Missense_D73G,Missense_D73G,Missense_D73G,Missense_D73G,Missense_D73G,Missense_D73G,Missense_D73G,Missense_D73G,Missense_D73G,Missense_D73G exm904720 11 47296520 [T/C] NM_130470,NM_130474,NM_001135944,NM_130473,NM_003682,NM_130472,NM_130471,NM_001135943,NM_130476,NM_130475 MADD,MADD,MADD,MADD,MADD,MADD,MADD,MADD,MADD,MADD EXON Missense_P157S,Missense_P157S,Missense_P157S,Missense_P157S,Missense_P157S,Missense_P157S,Missense_P157S,Missense_P157S,Missense_P157S,Missense_P157S exm904721 11 47296533 [A/G] NM_130470,NM_130474,NM_001135944,NM_130473,NM_003682,NM_130472,NM_130471,NM_001135943,NM_130476,NM_130475 MADD,MADD,MADD,MADD,MADD,MADD,MADD,MADD,MADD,MADD EXON Missense_R161H,Missense_R161H,Missense_R161H,Missense_R161H,Missense_R161H,Missense_R161H,Missense_R161H,Missense_R161H,Missense_R161H,Missense_R161H exm904723 11 47296536 [A/G] NM_130470,NM_130474,NM_001135944,NM_130473,NM_003682,NM_130472,NM_130471,NM_001135943,NM_130476,NM_130475 MADD,MADD,MADD,MADD,MADD,MADD,MADD,MADD,MADD,MADD EXON Missense_R162Q,Missense_R162Q,Missense_R162Q,Missense_R162Q,Missense_R162Q,Missense_R162Q,Missense_R162Q,Missense_R162Q,Missense_R162Q,Missense_R162Q exm904726 11 47296545 [T/C] NM_130470,NM_130474,NM_001135944,NM_130473,NM_003682,NM_130472,NM_130471,NM_001135943,NM_130476,NM_130475 MADD,MADD,MADD,MADD,MADD,MADD,MADD,MADD,MADD,MADD EXON Missense_A165V,Missense_A165V,Missense_A165V,Missense_A165V,Missense_A165V,Missense_A165V,Missense_A165V,Missense_A165V,Missense_A165V,Missense_A165V exm904727 11 47296550 [A/C] NM_130470,NM_130474,NM_001135944,NM_130473,NM_003682,NM_130472,NM_130471,NM_001135943,NM_130476,NM_130475 MADD,MADD,MADD,MADD,MADD,MADD,MADD,MADD,MADD,MADD EXON Missense_S167R,Missense_S167R,Missense_S167R,Missense_S167R,Missense_S167R,Missense_S167R,Missense_S167R,Missense_S167R,Missense_S167R,Missense_S167R exm904732 11 47296644 [A/G] NM_130470,NM_130474,NM_001135944,NM_130473,NM_003682,NM_130472,NM_130471,NM_001135943,NM_130476,NM_130475 MADD,MADD,MADD,MADD,MADD,MADD,MADD,MADD,MADD,MADD EXON Missense_R198H,Missense_R198H,Missense_R198H,Missense_R198H,Missense_R198H,Missense_R198H,Missense_R198H,Missense_R198H,Missense_R198H,Missense_R198H exm904734 11 47296701 [A/G] NM_130470,NM_130474,NM_001135944,NM_130473,NM_003682,NM_130472,NM_130471,NM_001135943,NM_130476,NM_130475 MADD,MADD,MADD,MADD,MADD,MADD,MADD,MADD,MADD,MADD EXON Missense_G217D,Missense_G217D,Missense_G217D,Missense_G217D,Missense_G217D,Missense_G217D,Missense_G217D,Missense_G217D,Missense_G217D,Missense_G217D exm904739 11 47298298 [T/C] NM_130470,NM_130474,NM_001135944,NM_130473,NM_003682,NM_130472,NM_130471,NM_001135943,NM_130476,NM_130475 MADD,MADD,MADD,MADD,MADD,MADD,MADD,MADD,MADD,MADD EXON Nonsense_R327X,Nonsense_R327X,Nonsense_R327X,Nonsense_R327X,Nonsense_R327X,Nonsense_R327X,Nonsense_R327X,Nonsense_R327X,Nonsense_R327X,Nonsense_R327X exm2249889 11 47298360 [A/G] NM_130470,NM_130474,NM_001135944,NM_130473,NM_003682,NM_130472,NM_130471,NM_001135943,NM_130476,NM_130475 MADD,MADD,MADD,MADD,MADD,MADD,MADD,MADD,MADD,MADD EXON Synonymous_E347E,Synonymous_E347E,Synonymous_E347E,Synonymous_E347E,Synonymous_E347E,Synonymous_E347E,Synonymous_E347E,Synonymous_E347E,Synonymous_E347E,Synonymous_E347E exm904749 11 47303165 [A/G] NM_130470,NM_130474,NM_001135944,NM_130473,NM_003682,NM_130472,NM_130471,NM_001135943,NM_130476,NM_130475 MADD,MADD,MADD,MADD,MADD,MADD,MADD,MADD,MADD,MADD EXON Missense_N444D,Missense_N444D,Missense_N444D,Missense_N444D,Missense_N444D,Missense_N444D,Missense_N444D,Missense_N444D,Missense_N444D,Missense_N444D exm904771 11 47304396 [T/C] NM_130470,NM_130474,NM_001135944,NM_130473,NM_003682,NM_130472,NM_130471,NM_001135943,NM_130476,NM_130475 MADD,MADD,MADD,MADD,MADD,MADD,MADD,MADD,MADD,MADD EXON Missense_P580S,Missense_P580S,Missense_P580S,Missense_P580S,Missense_P580S,Missense_P580S,Missense_P580S,Missense_P580S,Missense_P580S,Missense_P580S exm904774 11 47304450 [A/G] NM_130470,NM_130474,NM_001135944,NM_130473,NM_003682,NM_130472,NM_130471,NM_001135943,NM_130476,NM_130475 MADD,MADD,MADD,MADD,MADD,MADD,MADD,MADD,MADD,MADD EXON Missense_N598D,Missense_N598D,Missense_N598D,Missense_N598D,Missense_N598D,Missense_N598D,Missense_N598D,Missense_N598D,Missense_N598D,Missense_N598D exm2249890 11 47304464 [T/A] NM_130470,NM_130474,NM_001135944,NM_130473,NM_003682,NM_130472,NM_130471,NM_001135943,NM_130476,NM_130475 MADD,MADD,MADD,MADD,MADD,MADD,MADD,MADD,MADD,MADD EXON Synonymous_A602A,Synonymous_A602A,Synonymous_A602A,Synonymous_A602A,Synonymous_A602A,Synonymous_A602A,Synonymous_A602A,Synonymous_A602A,Synonymous_A602A,Synonymous_A602A exm904775 11 47304464 [T/A] NM_130470,NM_130474,NM_001135944,NM_130473,NM_003682,NM_130472,NM_130471,NM_001135943,NM_130476,NM_130475 MADD,MADD,MADD,MADD,MADD,MADD,MADD,MADD,MADD,MADD EXON Synonymous_A602A,Synonymous_A602A,Synonymous_A602A,Synonymous_A602A,Synonymous_A602A,Synonymous_A602A,Synonymous_A602A,Synonymous_A602A,Synonymous_A602A,Synonymous_A602A exm904782 11 47305966 [A/C] NM_130470,NM_130474,NM_001135944,NM_130473,NM_003682,NM_130472,NM_130471,NM_001135943,NM_130476,NM_130475 MADD,MADD,MADD,MADD,MADD,MADD,MADD,MADD,MADD,MADD EXON Missense_S669R,Missense_S669R,Missense_S669R,Missense_S669R,Missense_S669R,Missense_S669R,Missense_S669R,Missense_S669R,Missense_S669R,Missense_S669R exm904786 11 47305982 [A/G] NM_130470,NM_130474,NM_001135944,NM_130473,NM_003682,NM_130472,NM_130471,NM_001135943,NM_130476,NM_130475 MADD,MADD,MADD,MADD,MADD,MADD,MADD,MADD,MADD,MADD EXON Missense_E675K,Missense_E675K,Missense_E675K,Missense_E675K,Missense_E675K,Missense_E675K,Missense_E675K,Missense_E675K,Missense_E675K,Missense_E675K exm904789 11 47306049 [T/C] NM_130470,NM_130474,NM_001135944,NM_130473,NM_003682,NM_130472,NM_130471,NM_001135943,NM_130476,NM_130475 MADD,MADD,MADD,MADD,MADD,MADD,MADD,MADD,MADD,MADD EXON Missense_P697L,Missense_P697L,Missense_P697L,Missense_P697L,Missense_P697L,Missense_P697L,Missense_P697L,Missense_P697L,Missense_P697L,Missense_P697L exm904795 11 47306502 [T/A] NM_130470,NM_130474,NM_001135944,NM_130473,NM_003682,NM_130472,NM_130471,NM_001135943,NM_130476,NM_130475 MADD,MADD,MADD,MADD,MADD,MADD,MADD,MADD,MADD,MADD EXON Missense_D723V,Missense_D723V,Missense_D723V,Missense_D723V,Missense_D723V,Missense_D723V,Missense_D723V,Missense_D723V,Missense_D723V,Missense_D723V exm904798 11 47306534 [A/G] NM_130470,NM_130474,NM_001135944,NM_130473,NM_003682,NM_130472,NM_130471,NM_001135943,NM_130476,NM_130475 MADD,MADD,MADD,MADD,MADD,MADD,MADD,MADD,MADD,MADD EXON Missense_G734S,Missense_G734S,Missense_G734S,Missense_G734S,Missense_G734S,Missense_G734S,Missense_G734S,Missense_G734S,Missense_G734S,Missense_G734S exm2249891 11 47306575 [T/C] NM_130470,NM_130474,NM_001135944,NM_130473,NM_003682,NM_130472,NM_130471,NM_001135943,NM_130476,NM_130475 MADD,MADD,MADD,MADD,MADD,MADD,MADD,MADD,MADD,MADD EXON Synonymous_G747G,Synonymous_G747G,Synonymous_G747G,Synonymous_G747G,Synonymous_G747G,Synonymous_G747G,Synonymous_G747G,Synonymous_G747G,Synonymous_G747G,Synonymous_G747G exm904806 11 47306585 [A/G] NM_130470,NM_130474,NM_001135944,NM_130473,NM_003682,NM_130472,NM_130471,NM_001135943,NM_130476,NM_130475 MADD,MADD,MADD,MADD,MADD,MADD,MADD,MADD,MADD,MADD EXON Missense_V751M,Missense_V751M,Missense_V751M,Missense_V751M,Missense_V751M,Missense_V751M,Missense_V751M,Missense_V751M,Missense_V751M,Missense_V751M exm904809 11 47306599 [T/G] NM_130470,NM_130474,NM_001135944,NM_130473,NM_003682,NM_130472,NM_130471,NM_001135943,NM_130476,NM_130475 MADD,MADD,MADD,MADD,MADD,MADD,MADD,MADD,MADD,MADD EXON Missense_Q755H,Missense_Q755H,Missense_Q755H,Missense_Q755H,Missense_Q755H,Missense_Q755H,Missense_Q755H,Missense_Q755H,Missense_Q755H,Missense_Q755H exm904813 11 47306630 [T/C] NM_130470,NM_130474,NM_001135944,NM_130473,NM_003682,NM_130472,NM_130471,NM_001135943,NM_130476,NM_130475 MADD,MADD,MADD,MADD,MADD,MADD,MADD,MADD,MADD,MADD EXON Nonsense_R766X,Silent,Silent,Nonsense_R766X,Nonsense_R766X,Silent,Silent,Silent,Nonsense_R766X,Nonsense_R766X exm904822 11 47307996 [A/G] NM_130470,NM_130474,NM_001135944,NM_130473,NM_003682,NM_130472,NM_130471,NM_001135943,NM_130476,NM_130475 MADD,MADD,MADD,MADD,MADD,MADD,MADD,MADD,MADD,MADD EXON Missense_R855Q,Missense_R812Q,Missense_R812Q,Missense_R855Q,Missense_R855Q,Missense_R812Q,Missense_R812Q,Missense_R812Q,Missense_R855Q,Missense_R855Q exm1711981 11 47308065 [C/G] NM_130470,NM_130474,NM_001135944,NM_130473,NM_003682,NM_130472,NM_130471,NM_001135943,NM_130476,NM_130475 MADD,MADD,MADD,MADD,MADD,MADD,MADD,MADD,MADD,MADD EXON Missense_T878R,Missense_T835R,Missense_T835R,Missense_T878R,Missense_T878R,Missense_T835R,Missense_T835R,Missense_T835R,Missense_T878R,Missense_T878R exm1711986 11 47310945 [A/G] NM_130470,NM_130474,NM_001135944,NM_130473,NM_003682,NM_130472,NM_130471,NM_001135943,NM_130476,NM_130475 MADD,MADD,MADD,MADD,MADD,MADD,MADD,MADD,MADD,MADD EXON Missense_N886S,Missense_N843S,Missense_N843S,Missense_N906S,Missense_N906S,Missense_N843S,Missense_N863S,Missense_N843S,Missense_N886S,Missense_N906S exm904828 11 47311026 [A/G] NM_130470,NM_130474,NM_001135944,NM_130473,NM_003682,NM_130472,NM_130471,NM_001135943,NM_130476,NM_130475 MADD,MADD,MADD,MADD,MADD,MADD,MADD,MADD,MADD,MADD EXON Missense_G913D,Missense_G870D,Missense_G870D,Missense_G933D,Missense_G933D,Missense_G870D,Missense_G890D,Missense_G870D,Missense_G913D,Missense_G933D exm904830 11 47311032 [C/G] NM_130470,NM_130474,NM_001135944,NM_130473,NM_003682,NM_130472,NM_130471,NM_001135943,NM_130476,NM_130475 MADD,MADD,MADD,MADD,MADD,MADD,MADD,MADD,MADD,MADD EXON Missense_S915C,Missense_S872C,Missense_S872C,Missense_S935C,Missense_S935C,Missense_S872C,Missense_S892C,Missense_S872C,Missense_S915C,Missense_S935C exm904855 11 47312310 [C/G] NM_130470,NM_130474,NM_001135944,NM_130473,NM_003682,NM_130472,NM_130471,NM_001135943,NM_130476,NM_130475 MADD,MADD,MADD,MADD,MADD,MADD,MADD,MADD,MADD,MADD EXON Missense_G1082R,Missense_G1039R,Missense_G1039R,Missense_G1102R,Missense_G1102R,Missense_G1039R,Missense_G1059R,Missense_G1039R,Missense_G1082R,Missense_G1102R exm-rs10838687 11 47312892 [T/G] NM_130470,NM_130474,NM_001135944,NM_130473,NM_003682,NM_130472,NM_130471,NM_001135943,NM_130476,NM_130475 MADD,MADD,MADD,MADD,MADD,MADD,MADD,MADD,MADD,MADD Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm904862 11 47315499 [A/G] NM_130470,NM_130474,NM_001135944,NM_130473,NM_003682,NM_130472,NM_130471,NM_001135943,NM_130476,NM_130475 MADD,MADD,MADD,MADD,MADD,MADD,MADD,MADD,MADD,MADD EXON Missense_A1123T,Missense_A1080T,Missense_A1080T,Missense_A1143T,Missense_A1161T,Missense_A1080T,Missense_A1100T,Missense_A1080T,Missense_A1123T,Missense_A1161T exm904868 11 47317048 [A/G] NM_130470,NM_130474,NM_001135944,NM_130473,NM_003682,NM_130472,NM_130471,NM_001135943,NM_130476,NM_130475 MADD,MADD,MADD,MADD,MADD,MADD,MADD,MADD,MADD,MADD EXON Missense_R1135K,Missense_R1092K,Missense_R1092K,Missense_R1155K,Missense_R1173K,Missense_R1092K,Missense_R1112K,Missense_R1092K,Missense_R1135K,Missense_R1173K exm2218653 11 47317096 [A/G] NM_130470,NM_130474,NM_001135944,NM_130473,NM_003682,NM_130472,NM_130471,NM_001135943,NM_130476,NM_130475 MADD,MADD,MADD,MADD,MADD,MADD,MADD,MADD,MADD,MADD EXON Missense_R1151H,Missense_R1108H,Missense_R1108H,Missense_R1171H,Missense_R1189H,Missense_R1108H,Missense_R1128H,Missense_R1108H,Missense_R1151H,Missense_R1189H exm904872 11 47317127 [T/C] NM_130470,NM_130474,NM_001135944,NM_130473,NM_003682,NM_130472,NM_130471,NM_001135943,NM_130476,NM_130475 MADD,MADD,MADD,MADD,MADD,MADD,MADD,MADD,MADD,MADD EXON Synonymous_T1161T,Synonymous_T1118T,Silent,Synonymous_T1181T,Synonymous_T1199T,Synonymous_T1118T,Synonymous_T1138T,Synonymous_T1118T,Synonymous_T1161T,Synonymous_T1199T exm904886 11 47330200 [A/G] NM_130470,NM_130474,NM_001135944,NM_130473,NM_003682,NM_130472,NM_130471,NM_001135943,NM_130476,NM_130475 MADD,MADD,MADD,MADD,MADD,MADD,MADD,MADD,MADD,MADD EXON Missense_R1235H,Missense_R1192H,Missense_R1188H,Missense_R1255H,Missense_R1273H,Missense_R1192H,Missense_R1212H,Missense_R1191H,Missense_R1234H,Missense_R1273H exm904896 11 47333391 [G/C] NM_130470,NM_130474,NM_001135944,NM_130473,NM_003682,NM_130472,NM_130471,NM_001135943,NM_130476,NM_130475 MADD,MADD,MADD,MADD,MADD,MADD,MADD,MADD,MADD,MADD EXON Missense_L1364V,Missense_L1321V,Missense_L1317V,Missense_L1384V,Missense_L1423V,Missense_L1321V,Missense_L1341V,Missense_L1320V,Missense_L1363V,Missense_L1423V exm-rs7944584 11 47336320 [A/T] NM_130470,NM_130474,NM_001135944,NM_130473,NM_003682,NM_130472,NM_130471,NM_001135943,NM_130476,NM_130475 MADD,MADD,MADD,MADD,MADD,MADD,MADD,MADD,MADD,MADD Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm904911 11 47345887 [T/C] NM_130470,NM_130474,NM_001135944,NM_130473,NM_003682,NM_130472,NM_130471,NM_001135943,NM_130476,NM_130475 MADD,MADD,MADD,MADD,MADD,MADD,MADD,MADD,MADD,MADD EXON Synonymous_P1479P,Synonymous_P1436P,Synonymous_P1432P,Synonymous_P1499P,Synonymous_P1538P,Synonymous_P1436P,Synonymous_P1456P,Synonymous_P1435P,Synonymous_P1478P,Synonymous_P1538P exm904927 11 47350652 [T/A] NM_130470,NM_130474,NM_001135944,NM_130473,NM_003682,NM_130472,NM_130471,NM_001135943,NM_130476,NM_130475 MADD,MADD,MADD,MADD,MADD,MADD,MADD,MADD,MADD,MADD EXON Missense_H1573L,Silent,Missense_H1526L,Missense_H1593L,Missense_H1632L,Missense_H1530L,Missense_H1550L,Missense_H1529L,Missense_H1572L,Silent exm2218655 11 47353626 [A/G] NM_000256 MYBPC3 EXON Nonsense_R1271X exm904936 11 47353695 [T/C] NM_000256 MYBPC3 EXON Missense_G1248R exm1712034 11 47353738 [T/C] NM_000256 MYBPC3 EXON Synonymous_Q1233Q exm904937 11 47353755 [A/G] NM_000256 MYBPC3 EXON Missense_R1228C exm904943 11 47354209 [T/C] NM_000256 MYBPC3 EXON Missense_E1179K exm2249892 11 47354760 [T/G] NM_000256 MYBPC3 EXON Synonymous_A1105A exm904958 11 47354787 [T/C] NM_000256 MYBPC3 EXON Synonymous_E1096E exm904971 11 47355192 [A/G] NM_000256 MYBPC3 EXON Missense_R1036C exm904976 11 47355294 [A/G] NM_000256 MYBPC3 EXON Missense_R1002W exm904978 11 47355475 [C/G] NM_000256 MYBPC3 EXON Missense_Q998E exm1712038 11 47355553 [A/G] NM_000256 MYBPC3 EXON Missense_R972W exm904983 11 47356628 [G/C] NM_000256 MYBPC3 EXON Missense_T957S exm904994 11 47357479 [T/C] NM_000256 MYBPC3 EXON Missense_V896M exm904999 11 47358943 [A/G] NM_000256 MYBPC3 EXON Synonymous_I867I exm905002 11 47358997 [A/G] NM_000256 MYBPC3 EXON Synonymous_V849V exm905006 11 47359047 [T/C] NM_000256 MYBPC3 EXON Missense_A833T exm905007 11 47359057 [A/C] NM_000256 MYBPC3 EXON Synonymous_L829L exm1712047 11 47359245 [T/G] NM_000256 MYBPC3 EXON Synonymous_I803I exm905017 11 47360209 [A/G] NM_000256 MYBPC3 EXON Missense_R724W exm905021 11 47360899 [A/G] NM_000256 MYBPC3 EXON Synonymous_S708S exm905029 11 47362723 [A/G] NM_000256 MYBPC3 EXON Synonymous_F621F exm905039 11 47363543 [A/G] NM_000256 MYBPC3 EXON Missense_R597W exm905040 11 47363546 [T/C] NM_000256 MYBPC3 EXON Missense_G596R exm905050 11 47364189 [T/C] NM_000256 MYBPC3 EXON Missense_A522T exm905053 11 47364234 [T/C] NM_000256 MYBPC3 EXON Missense_G507R exm905058 11 47364285 [T/C] NM_000256 MYBPC3 EXON Missense_G490R exm905059 11 47364286 [A/G] NM_000256 MYBPC3 EXON Synonymous_D489D exm905065 11 47364602 [T/C] NM_000256 MYBPC3 EXON Missense_E441K exm905068 11 47364633 [A/G] NM_000256 MYBPC3 EXON Synonymous_D430D exm905077 11 47365122 [A/G] NM_000256 MYBPC3 EXON Missense_R382W exm905083 11 47367887 [T/C] NM_000256 MYBPC3 EXON Missense_V321M exm905102 11 47369220 [T/C] NM_000256 MYBPC3 EXON Missense_G278E exm905109 11 47370041 [T/C] NM_000256 MYBPC3 EXON Missense_S236G exm905113 11 47371330 [T/C] NM_000256 MYBPC3 EXON Missense_S217G exm905114 11 47371333 [T/C] NM_000256 MYBPC3 EXON Missense_A216T exm905124 11 47371449 [T/C] NM_000256 MYBPC3 EXON Missense_R177H exm905133 11 47371592 [A/G] NM_000256 MYBPC3 EXON Missense_R160W exm905134 11 47371598 [T/C] NM_000256 MYBPC3 EXON Missense_V158M exm905171 11 47376831 [T/C] NM_001080547,NM_003120 SPI1,SPI1 EXON Missense_G255S,Missense_G254S exm905176 11 47376927 [T/G] NM_001080547,NM_003120 SPI1,SPI1 EXON Missense_K223Q,Missense_K222Q exm905210 11 47431703 [A/G] NM_152264,NM_001128225 SLC39A13,SLC39A13 EXON Missense_T20A,Missense_T20A exm905212 11 47431728 [A/G] NM_152264,NM_001128225 SLC39A13,SLC39A13 EXON Missense_E28G,Missense_E28G exm905218 11 47431764 [A/G] NM_152264,NM_001128225 SLC39A13,SLC39A13 EXON Missense_R40Q,Missense_R40Q exm905235 11 47433573 [T/C] NM_152264,NM_001128225 SLC39A13,SLC39A13 EXON Missense_T133M,Missense_T133M exm905239 11 47433920 [G/C] NM_152264,NM_001128225 SLC39A13,SLC39A13 EXON Missense_Q147E,Missense_Q147E exm905246 11 47434984 [A/G] NM_152264,NM_001128225 SLC39A13,SLC39A13 EXON Missense_A191T,Missense_A191T exm905274 11 47436707 [T/C] NM_152264,NM_001128225 SLC39A13,SLC39A13 EXON Missense_P339L,Missense_P346L exm905328 11 47446727 [T/C] NM_002804 PSMC3 EXON Missense_S77N exm2267177 11 47454701 [A/G] exm905336 11 47459575 [T/C] NM_032645,NM_005055 RAPSN,RAPSN EXON Missense_R338Q,Missense_R397Q exm905340 11 47460323 [A/G] NM_032645,NM_005055 RAPSN,RAPSN EXON Missense_R317W,Missense_R376W exm905344 11 47460413 [A/G] NM_032645,NM_005055 RAPSN,RAPSN EXON Missense_R287W,Missense_R346W exm905363 11 47463254 [T/C] NM_032645,NM_005055 RAPSN,RAPSN EXON Silent,Missense_S274N exm1712169 11 47463256 [T/C] NM_032645,NM_005055 RAPSN,RAPSN EXON Silent,Missense_M273I exm905372 11 47464258 [T/C] NM_032645,NM_005055 RAPSN,RAPSN EXON Missense_V214M,Missense_V214M exm905373 11 47464284 [T/C] NM_032645,NM_005055 RAPSN,RAPSN EXON Missense_R205Q,Missense_R205Q exm905380 11 47469483 [T/C] NM_032645,NM_005055 RAPSN,RAPSN EXON Missense_V138I,Missense_V138I exm905388 11 47469631 [T/G] NM_032645,NM_005055 RAPSN,RAPSN EXON Missense_N88K,Missense_N88K exm905389 11 47469654 [A/G] NM_032645,NM_005055 RAPSN,RAPSN EXON Missense_F81L,Missense_F81L exm905396 11 47470345 [A/G] NM_032645,NM_005055 RAPSN,RAPSN EXON Missense_R58C,Missense_R58C exm905439 11 47508792 [A/C] NM_006560,NM_001172640,NM_001172639,NM_198700,NM_001025596 CELF1,CELF1,CELF1,CELF1,CELF1 EXON Synonymous_G60G,Synonymous_G60G,Synonymous_G87G,Synonymous_G60G,Synonymous_G60G exm905451 11 47587452 [T/C] NM_175732,NM_001143984 PTPMT1,PTPMT1 EXON Silent,Missense_S93L exm905456 11 47591282 [T/C] NM_175732,NM_001143984 PTPMT1,PTPMT1 EXON Missense_R96W,Silent exm905465 11 47593061 [T/C] NM_175732,NM_001143984 PTPMT1,PTPMT1 EXON Synonymous_I162I,Missense_R135C exm905472 11 47593180 [G/C] NM_175732,NM_001143984 PTPMT1,PTPMT1 EXON Missense_X202S,Silent exm905478 11 47594541 [T/C] NM_175732,NM_001143984,NR_024222,NM_018095,NM_016506 PTPMT1,PTPMT1,KBTBD4,KBTBD4,KBTBD4 EXON Silent,Silent,Silent,Missense_V516I,Missense_V500I exm905495 11 47595013 [A/G] NM_175732,NM_001143984,NR_024222,NM_018095,NM_016506 PTPMT1,PTPMT1,KBTBD4,KBTBD4,KBTBD4 EXON Silent,Silent,Silent,Synonymous_D358D,Synonymous_D342D exm905500 11 47595131 [T/C] NR_024222,NM_018095,NM_016506 KBTBD4,KBTBD4,KBTBD4 EXON Silent,Missense_N319S,Missense_N303S exm905513 11 47597170 [A/G] NR_024222,NM_018095,NM_016506 KBTBD4,KBTBD4,KBTBD4 EXON Silent,Missense_A240V,Missense_A224V exm905515 11 47597213 [T/C] NR_024222,NM_018095,NM_016506 KBTBD4,KBTBD4,KBTBD4 EXON Silent,Missense_E226K,Missense_E210K exm905523 11 47598974 [T/G] NR_024222,NM_018095,NM_016506 KBTBD4,KBTBD4,KBTBD4 EXON Silent,Missense_D209A,Missense_D193A exm905527 11 47599322 [T/C] NR_024222,NM_018095,NM_016506 KBTBD4,KBTBD4,KBTBD4 EXON Silent,Missense_N93S,Missense_N77S exm905566 11 47603733 [G/C] NM_004551 NDUFS3 EXON Missense_V159L exm905577 11 47605878 [A/G] NM_004551 NDUFS3 EXON Missense_D214N exm2218668 11 47605950 [T/C] NM_004551 NDUFS3 EXON Missense_P238S exm905596 11 47609867 [A/G] NM_001164379 FAM180B EXON Missense_A145T exm905611 11 47611672 [A/C] NM_031909 C1QTNF4 EXON Missense_F231V exm905612 11 47611675 [A/G] NM_031909 C1QTNF4 EXON Missense_F230L exm905615 11 47611720 [T/C] NM_031909 C1QTNF4 EXON Missense_D215N exm905620 11 47611940 [C/G] NM_031909 C1QTNF4 EXON Missense_Q141H exm905641 11 47640429 [G/C] NM_014342 MTCH2 EXON Missense_P290A exm905646 11 47644269 [T/C] NM_014342 MTCH2 EXON Missense_C270Y exm905650 11 47644297 [T/C] NM_014342 MTCH2 EXON Missense_I261V exm905652 11 47647238 [A/G] NM_014342 MTCH2 EXON Missense_V246A exm905654 11 47647265 [A/G] NM_014342 MTCH2 EXON Missense_F237S exm-rs3817334 11 47650993 [T/C] NM_014342 MTCH2 Silent exm905670 11 47652148 [T/C] NM_014342 MTCH2 EXON Missense_I166M exm905671 11 47652637 [T/C] NM_014342 MTCH2 EXON Missense_I144V exm905678 11 47656236 [G/C] NM_014342 MTCH2 EXON Missense_H119Q exm905679 11 47656268 [T/C] NM_014342 MTCH2 EXON Missense_V109I exm-rs10838738 11 47663049 [A/G] NM_014342 MTCH2 Silent exm905698 11 47681762 [A/G] NM_024783 AGBL2 EXON Missense_A891V exm1712293 11 47689222 [G/C] NM_024783 AGBL2 EXON Missense_K747N exm905712 11 47689234 [A/C] NM_024783 AGBL2 EXON Missense_K743N exm905723 11 47701528 [A/C] NM_024783 AGBL2 EXON Missense_M671I exm905726 11 47701560 [T/G] NM_024783 AGBL2 EXON Missense_T661P exm905734 11 47703521 [T/C] NM_024783 AGBL2 EXON Missense_G639S exm905736 11 47703578 [A/G] NM_024783 AGBL2 EXON Missense_R620W exm905741 11 47711710 [T/C] NM_024783 AGBL2 EXON Missense_G517R exm905743 11 47711820 [A/G] NM_024783 AGBL2 EXON Missense_L480P exm905751 11 47711944 [T/C] NM_024783 AGBL2 EXON Missense_I439V exm905759 11 47712109 [G/C] NM_024783 AGBL2 EXON Missense_P384A exm905764 11 47712199 [T/C] NM_024783 AGBL2 EXON Missense_R354G exm905766 11 47712213 [T/C] NM_024783 AGBL2 EXON Missense_R349H exm905767 11 47712214 [A/G] NM_024783 AGBL2 EXON Missense_R349C exm905771 11 47712276 [A/G] NM_024783 AGBL2 EXON Missense_P328L exm1712305 11 47721049 [A/G] NM_024783 AGBL2 EXON Missense_P215S exm905784 11 47726127 [T/C] NM_024783 AGBL2 EXON Missense_C185Y exm905785 11 47726134 [T/C] NM_024783 AGBL2 EXON Missense_I183V exm905786 11 47726154 [A/C] NM_024783 AGBL2 EXON Missense_L176R exm905787 11 47726205 [T/C] NM_024783 AGBL2 EXON Missense_R159H exm905790 11 47726274 [A/T] NM_024783 AGBL2 EXON Missense_H136L exm905801 11 47731930 [T/C] NM_024783 AGBL2 EXON Synonymous_L77L exm905802 11 47731941 [C/G] NM_024783 AGBL2 EXON Missense_E74Q exm905803 11 47731963 [G/C] NM_024783 AGBL2 EXON Missense_L66F exm2249895 11 47741561 [A/G] NM_015308 FNBP4 EXON Synonymous_D961D exm905836 11 47745589 [T/C] NM_015308 FNBP4 EXON Missense_I819V exm905838 11 47745648 [A/G] NM_015308 FNBP4 EXON Missense_A799V exm905839 11 47745664 [T/C] NM_015308 FNBP4 EXON Missense_T794A exm905840 11 47745696 [G/C] NM_015308 FNBP4 EXON Missense_S783C exm905842 11 47746024 [A/C] NM_015308 FNBP4 EXON Missense_S772I exm905881 11 47767662 [G/C] NM_015308 FNBP4 EXON Missense_E397D exm905884 11 47767726 [A/G] NM_015308 FNBP4 EXON Missense_L376S exm2249896 11 47767773 [T/C] NM_015308 FNBP4 EXON Synonymous_T360T exm905896 11 47772473 [T/C] NM_015308 FNBP4 EXON Missense_K301E exm905898 11 47772520 [A/G] NM_015308 FNBP4 EXON Missense_S285F exm905899 11 47772545 [T/C] NM_015308 FNBP4 EXON Missense_I277V exm905900 11 47772711 [G/C] NM_015308 FNBP4 EXON Missense_Q257E exm905904 11 47772827 [T/C] NM_015308 FNBP4 EXON Missense_G218D exm905909 11 47774581 [T/C] NM_015308 FNBP4 EXON Missense_R175Q exm905915 11 47776156 [T/C] NM_015308 FNBP4 EXON Missense_E125G exm905916 11 47776214 [T/C] NM_015308 FNBP4 EXON Missense_G106S exm905939 11 47801897 [T/C] NM_015231 NUP160 EXON Missense_A1407T exm905945 11 47801975 [T/C] NM_015231 NUP160 EXON Missense_M1381V exm905948 11 47804713 [T/G] NM_015231 NUP160 EXON Missense_N1343T exm905974 11 47810074 [A/G] NM_015231 NUP160 EXON Missense_P1201S exm905982 11 47814450 [T/C] NM_015231 NUP160 EXON Missense_R1113Q exm905995 11 47819765 [T/C] NM_015231 NUP160 EXON Missense_N1014S exm905998 11 47819940 [T/C] NM_015231 NUP160 EXON Missense_G991S exm906002 11 47820015 [C/G] NM_015231 NUP160 EXON Missense_V966L exm906003 11 47823395 [T/C] NM_015231 NUP160 EXON Missense_V955M exm906010 11 47826121 [T/A] NM_015231 NUP160 EXON Missense_C886S exm906016 11 47828670 [A/G] NM_015231 NUP160 EXON Missense_S800P exm906017 11 47829952 [T/C] NM_015231 NUP160 EXON Missense_T791A exm906018 11 47829973 [T/C] NM_015231 NUP160 EXON Missense_A784T exm906024 11 47833651 [T/C] NM_015231 NUP160 EXON Missense_I736V exm906030 11 47833866 [T/C] NM_015231 NUP160 EXON Missense_G690R exm906034 11 47833929 [T/C] NM_015231 NUP160 EXON Missense_I669V exm906035 11 47833935 [T/C] NM_015231 NUP160 EXON Missense_N667D exm906042 11 47834482 [A/G] NM_015231 NUP160 EXON Missense_P635L exm906046 11 47834555 [A/G] NM_015231 NUP160 EXON Missense_R611W exm906072 11 47840937 [G/C] NM_015231 NUP160 EXON Missense_Q451E exm906087 11 47857253 [T/C] NM_015231 NUP160 EXON Missense_T351A exm906090 11 47857265 [A/C] NM_015231 NUP160 EXON Missense_A347S exm906096 11 47858539 [A/G] NM_015231 NUP160 EXON Missense_P281L exm906101 11 47861403 [T/C] NM_015231 NUP160 EXON Missense_D247G exm906106 11 47861488 [A/C] NM_015231 NUP160 EXON Missense_A219S exm2218674 11 47861581 [T/C] NM_015231 NUP160 EXON Missense_T188A exm1712437 11 47861587 [T/C] NM_015231 NUP160 EXON Missense_I186V exm906114 11 47862046 [T/C] NM_015231 NUP160 EXON Missense_V137I exm906121 11 47869485 [T/C] NM_015231 NUP160 EXON Missense_V77I exm906136 11 47869855 [A/C] NM_015231 NUP160 EXON Missense_A40S exm906142 11 47869957 [A/C] NM_015231 NUP160 EXON Missense_A6S exm-rs11039482 11 48009074 [T/C] NM_002843,NM_001098503 PTPRJ,PTPRJ Silent,Silent exm-rs4752805 11 48018355 [A/G] NM_002843,NM_001098503 PTPRJ,PTPRJ Silent,Silent exm2259795 11 48085189 [A/G] NM_002843,NM_001098503 PTPRJ,PTPRJ Silent,Silent exm2218675 11 48134520 [A/C] NM_002843,NM_001098503 PTPRJ,PTPRJ EXON Missense_T113P,Missense_T113P exm2218676 11 48142600 [A/C] NM_002843,NM_001098503 PTPRJ,PTPRJ EXON Missense_T133N,Missense_T133N exm906160 11 48142818 [A/G] NM_002843,NM_001098503 PTPRJ,PTPRJ EXON Missense_E206K,Missense_E206K exm906161 11 48145166 [A/G] NM_002843,NM_001098503 PTPRJ,PTPRJ EXON Synonymous_E206E,Synonymous_E206E exm2218677 11 48145315 [A/G] NM_002843,NM_001098503 PTPRJ,PTPRJ EXON Missense_Q256R,Missense_Q256R exm906172 11 48145375 [A/C] NM_002843,NM_001098503 PTPRJ,PTPRJ EXON Missense_Q276P,Missense_Q276P exm906175 11 48146522 [A/G] NM_002843,NM_001098503 PTPRJ,PTPRJ EXON Missense_A293T,Missense_A293T exm906177 11 48146622 [A/G] NM_002843,NM_001098503 PTPRJ,PTPRJ EXON Missense_R326Q,Missense_R326Q exm906181 11 48149337 [A/G] NM_002843,NM_001098503 PTPRJ,PTPRJ EXON Missense_I367V,Missense_I367V exm906183 11 48149352 [A/G] NM_002843,NM_001098503 PTPRJ,PTPRJ EXON Missense_V372I,Missense_V372I exm906187 11 48149449 [T/C] NM_002843,NM_001098503 PTPRJ,PTPRJ EXON Missense_A404V,Missense_A404V exm906188 11 48149478 [A/G] NM_002843,NM_001098503 PTPRJ,PTPRJ EXON Missense_V414I,Missense_V414I exm906190 11 48149491 [A/G] NM_002843,NM_001098503 PTPRJ,PTPRJ EXON Missense_R418H,Missense_R418H exm906193 11 48149512 [A/G] NM_002843,NM_001098503 PTPRJ,PTPRJ EXON Missense_R425H,Missense_R425H exm906198 11 48149572 [T/C] NM_002843,NM_001098503 PTPRJ,PTPRJ EXON Missense_P445L,Missense_P445L exm906201 11 48149590 [A/G] NM_002843,NM_001098503 PTPRJ,PTPRJ EXON Missense_H451R,Missense_H451R exm906202 11 48152011 [T/C] NM_002843,NM_001098503 PTPRJ,PTPRJ EXON Missense_P453L,Missense_P453L exm906203 11 48152053 [T/C] NM_002843,NM_001098503 PTPRJ,PTPRJ EXON Missense_T467M,Missense_T467M exm906204 11 48152063 [C/G] NM_002843,NM_001098503 PTPRJ,PTPRJ EXON Missense_I470M,Missense_I470M exm906205 11 48152064 [A/G] NM_002843,NM_001098503 PTPRJ,PTPRJ EXON Missense_G471S,Missense_G471S exm906207 11 48152148 [A/G] NM_002843,NM_001098503 PTPRJ,PTPRJ EXON Missense_T499A,Missense_T499A exm906209 11 48152166 [A/G] NM_002843,NM_001098503 PTPRJ,PTPRJ EXON Missense_I505V,Missense_I505V exm906210 11 48152185 [T/C] NM_002843,NM_001098503 PTPRJ,PTPRJ EXON Missense_P511L,Missense_P511L exm1712511 11 48152247 [T/C] NM_002843,NM_001098503 PTPRJ,PTPRJ EXON Missense_R532W,Missense_R532W exm906217 11 48157617 [A/G] NM_002843 PTPRJ EXON Missense_V548M exm906233 11 48158586 [T/A] NM_002843 PTPRJ EXON Missense_S635R exm906235 11 48158689 [A/G] NM_002843 PTPRJ EXON Missense_A670T exm906239 11 48158815 [T/C] NM_002843 PTPRJ EXON Missense_R712W exm906242 11 48161067 [A/G] NM_002843 PTPRJ EXON Missense_E728K exm2271499 11 48162305 [T/C] NM_002843 PTPRJ Silent exm906263 11 48166267 [C/G] NM_002843 PTPRJ EXON Missense_E872D exm906269 11 48166436 [T/C] NM_002843 PTPRJ EXON Missense_R929W exm906273 11 48166641 [A/G] NM_002843 PTPRJ EXON Missense_R959H exm906294 11 48177389 [A/G] NM_002843 PTPRJ EXON Missense_H1089R exm906295 11 48177395 [T/C] NM_002843 PTPRJ EXON Missense_T1091M exm906305 11 48181518 [G/C] NM_002843 PTPRJ EXON Missense_Q1159E exm906308 11 48181549 [T/C] NM_002843 PTPRJ EXON Missense_T1169I exm906309 11 48181561 [T/C] NM_002843 PTPRJ EXON Missense_V1173A exm906311 11 48181601 [T/G] NM_002843 PTPRJ EXON Missense_N1186K exm2276166 11 48185119 [A/G] NM_002843 PTPRJ EXON Missense_R1223H exm906317 11 48185125 [A/G] NM_002843 PTPRJ EXON Missense_Y1225C exm906318 11 48185134 [A/G] NM_002843 PTPRJ EXON Missense_Q1228R exm906321 11 48185155 [T/C] NM_002843 PTPRJ EXON Missense_I1235T exm-rs11039571 11 48207259 [A/G] exm906340 11 48238455 [A/G] NM_001005470 OR4B1 EXON Missense_V32M exm906341 11 48238468 [T/C] NM_001005470 OR4B1 EXON Missense_T36M exm906345 11 48238500 [A/G] NM_001005470 OR4B1 EXON Missense_V47I exm906347 11 48238549 [A/G] NM_001005470 OR4B1 EXON Missense_C63Y exm906348 11 48238563 [A/G] NM_001005470 OR4B1 EXON Missense_E68K exm906349 11 48238595 [A/C] NM_001005470 OR4B1 EXON Missense_K78N exm906351 11 48238603 [A/T] NM_001005470 OR4B1 EXON Missense_I81K exm906354 11 48238704 [A/G] NM_001005470 OR4B1 EXON Missense_V115M exm906356 11 48238725 [A/G] NM_001005470 OR4B1 EXON Missense_V122M exm906360 11 48238768 [A/G] NM_001005470 OR4B1 EXON Missense_R136H exm906364 11 48238795 [A/G] NM_001005470 OR4B1 EXON Missense_G145D exm2218680 11 48238887 [A/T] NM_001005470 OR4B1 EXON Missense_F176I exm906372 11 48238984 [T/C] NM_001005470 OR4B1 EXON Missense_S208F exm906374 11 48238996 [A/T] NM_001005470 OR4B1 EXON Nonsense_L212X exm906375 11 48238998 [A/G] NM_001005470 OR4B1 EXON Missense_V213M exm906378 11 48239016 [A/G] NM_001005470 OR4B1 EXON Missense_I219V exm906381 11 48239071 [A/C] NM_001005470 OR4B1 EXON Missense_T237N exm1712561 11 48239133 [T/C] NM_001005470 OR4B1 EXON Nonsense_R258X exm906387 11 48239182 [A/C] NM_001005470 OR4B1 EXON Missense_T274K exm906390 11 48239215 [A/G] NM_001005470 OR4B1 EXON Missense_Y285C exm906392 11 48239244 [A/G] NM_001005470 OR4B1 EXON Missense_A295T exm906394 11 48266660 [A/C] NM_001004727 OR4X2 EXON Missense_T2N exm1712588 11 48266695 [A/G] NM_001004727 OR4X2 EXON Missense_E14K exm2218682 11 48266696 [A/T] NM_001004727 OR4X2 EXON Missense_E14V exm2276993 11 48266736 [T/C] NM_001004727 OR4X2 EXON Synonymous_Y27Y exm1712590 11 48266736 [C/G] NM_001004727 OR4X2 EXON Nonsense_Y27X exm1712595 11 48266883 [A/T] NM_001004727 OR4X2 EXON Missense_D76E exm906420 11 48267179 [T/C] NM_001004727 OR4X2 EXON Missense_P175L exm906428 11 48267326 [T/G] NM_001004727 OR4X2 EXON Missense_G224V exm906434 11 48267394 [A/G] NM_001004727 OR4X2 EXON Missense_V247I exm906435 11 48267398 [T/C] NM_001004727 OR4X2 EXON Missense_F248S exm906437 11 48267442 [T/G] NM_001004727 OR4X2 EXON Missense_V263L exm906441 11 48267469 [A/G] NM_001004727 OR4X2 EXON Missense_A272T exm906442 11 48267470 [T/C] NM_001004727 OR4X2 EXON Missense_A272V exm906461 11 48285558 [T/C] NM_001004726 OR4X1 EXON Missense_A49V exm906466 11 48285686 [T/C] NM_001004726 OR4X1 EXON Missense_L92F exm906468 11 48285740 [A/G] NM_001004726 OR4X1 EXON Missense_A110T exm906470 11 48285770 [T/C] NM_001004726 OR4X1 EXON Missense_R120C exm906474 11 48285792 [T/C] NM_001004726 OR4X1 EXON Missense_P127L exm906477 11 48285839 [A/G] NM_001004726 OR4X1 EXON Missense_V143M exm906478 11 48285842 [A/G] NM_001004726 OR4X1 EXON Missense_R144G exm2218684 11 48285846 [T/C] NM_001004726 OR4X1 EXON Missense_I145T exm906481 11 48285906 [T/C] NM_001004726 OR4X1 EXON Missense_P165L exm906485 11 48285928 [T/G] NM_001004726 OR4X1 EXON Missense_M172I exm906499 11 48286086 [A/G] NM_001004726 OR4X1 EXON Missense_S225N exm906501 11 48286148 [A/G] NM_001004726 OR4X1 EXON Missense_D246N exm906502 11 48286164 [T/C] NM_001004726 OR4X1 EXON Missense_P251L exm906503 11 48286179 [A/G] NM_001004726 OR4X1 EXON Missense_Y256C exm906505 11 48286231 [A/T] NM_001004726 OR4X1 EXON Nonsense_Y273X exm906510 11 48286256 [T/C] NM_001004726 OR4X1 EXON Missense_P282S exm906517 11 48327794 [T/C] NM_001004725 OR4S1 EXON Missense_V7A exm906519 11 48327834 [T/G] NM_001004725 OR4S1 EXON Missense_E20D exm906520 11 48327841 [T/C] NM_001004725 OR4S1 EXON Missense_H23Y exm906525 11 48328027 [T/G] NM_001004725 OR4S1 EXON Missense_V85L exm906527 11 48328042 [A/C] NM_001004725 OR4S1 EXON Missense_I90L exm906532 11 48328121 [T/C] NM_001004725 OR4S1 EXON Missense_M116T exm906538 11 48328174 [T/A] NM_001004725 OR4S1 EXON Missense_M134L exm906539 11 48328184 [A/G] NM_001004725 OR4S1 EXON Missense_R137Q exm906543 11 48328267 [T/C] NM_001004725 OR4S1 EXON Missense_P165S exm906546 11 48328331 [T/C] NM_001004725 OR4S1 EXON Missense_A186V exm906555 11 48328465 [T/C] NM_001004725 OR4S1 EXON Missense_R231W exm906560 11 48328498 [A/G] NM_001004725 OR4S1 EXON Missense_V242I exm906563 11 48328562 [T/G] NM_001004725 OR4S1 EXON Missense_L263R exm906565 11 48328585 [T/C] NM_001004725 OR4S1 EXON Missense_L271F exm906571 11 48328639 [A/G] NM_001004725 OR4S1 EXON Missense_N289D exm-rs1483121 11 48333360 [A/G] exm906581 11 48346495 [A/G] NM_001004702 OR4C3 EXON Missense_M1I exm906586 11 48346523 [T/C] NM_001004702 OR4C3 EXON Missense_L11F exm906587 11 48346535 [C/G] NM_001004702 OR4C3 EXON Missense_G15R exm906588 11 48346541 [A/T] NM_001004702 OR4C3 EXON Missense_T17S exm906590 11 48346547 [T/C] NM_001004702 OR4C3 EXON Missense_P19S exm906592 11 48346579 [A/C] NM_001004702 OR4C3 EXON Missense_D29E exm906606 11 48346785 [A/G] NM_001004702 OR4C3 EXON Missense_Y98C exm2276169 11 48346833 [A/G] NM_001004702 OR4C3 EXON Missense_G114E exm906624 11 48346946 [T/C] NM_001004702 OR4C3 EXON Missense_C152R exm906630 11 48346996 [A/G] NM_001004702 OR4C3 EXON Missense_M168I exm906634 11 48347006 [A/G] NM_001004702 OR4C3 EXON Missense_V172M exm906646 11 48347082 [A/G] NM_001004702 OR4C3 EXON Missense_N197S exm906660 11 48347223 [T/C] NM_001004702 OR4C3 EXON Missense_I244T exm906664 11 48347274 [T/C] NM_001004702 OR4C3 EXON Missense_A261V exm906668 11 48347288 [A/G] NM_001004702 OR4C3 EXON Missense_G266R exm906673 11 48347346 [T/A] NM_001004702 OR4C3 EXON Missense_H285L exm906680 11 48347424 [T/C] NM_001004702 OR4C3 EXON Missense_I311T exm906681 11 48347430 [A/C] NM_001004702 OR4C3 EXON Missense_T313N exm1712661 11 48347468 [A/C] NM_001004702 OR4C3 EXON Missense_L326I exm906687 11 48366942 [A/G] NM_001005513 OR4C45 EXON Missense_X293Q exm906693 11 48367065 [T/G] NM_001005513 OR4C45 EXON Missense_L252M exm906694 11 48367073 [A/C] NM_001005513 OR4C45 EXON Missense_F249C exm906696 11 48367098 [A/T] NM_001005513 OR4C45 EXON Missense_I241F exm906700 11 48367155 [A/T] NM_001005513 OR4C45 EXON Missense_T222S exm906702 11 48367163 [A/G] NM_001005513 OR4C45 EXON Missense_F219S exm906704 11 48367190 [A/T] NM_001005513 OR4C45 EXON Missense_V210D exm906712 11 48367334 [A/G] NM_001005513 OR4C45 EXON Missense_P162L exm906719 11 48367424 [G/C] NM_001005513 OR4C45 EXON Missense_S132T exm906724 11 48367499 [A/G] NM_001005513 OR4C45 EXON Missense_I107T exm906728 11 48373762 [A/C] NM_001005513 OR4C45 EXON Missense_L80V exm906732 11 48373815 [A/G] NM_001005513 OR4C45 EXON Missense_F62S exm906735 11 48373827 [A/G] NM_001005513 OR4C45 EXON Missense_P58L exm906736 11 48373849 [T/C] NM_001005513 OR4C45 EXON Missense_G51S exm-rs1351696 11 48382471 [A/G] exm906772 11 48510654 [A/C] NM_001005512 OR4A47 EXON Missense_I104L exm1712734 11 48510904 [T/G] NM_001005512 OR4A47 EXON Missense_C187F exm906794 11 48511050 [T/C] NM_001005512 OR4A47 EXON Missense_S236P exm-rs7395662 11 48518893 [A/G] exm2271607 11 48558249 [T/G] exm-rs10838956 11 48581765 [T/C] exm2264424 11 48987539 [A/C] exm2275297 11 49000423 [C/G] exm2275386 11 49000558 [A/G] exm2263478 11 49168410 [T/G] NM_001014986,NM_001193471,NM_001193473,NM_004476,NM_001193472 FOLH1,FOLH1,FOLH1,FOLH1,FOLH1 EXON Missense_S686R,Missense_S702R,Missense_S409R,Missense_S717R,Missense_S671R exm2263480 11 49196456 [T/C] NM_001014986,NM_001193471,NM_001193473,NM_004476,NM_001193472 FOLH1,FOLH1,FOLH1,FOLH1,FOLH1 EXON Missense_A365T,Missense_A350T,Missense_A57T,Missense_A365T,Missense_A350T exm906878 11 49207245 [A/G] NM_001014986,NM_001193471,NM_001193473,NM_004476,NM_001193472 FOLH1,FOLH1,FOLH1,FOLH1,FOLH1 EXON Missense_L268F,Missense_L253F,Silent,Missense_L268F,Missense_L253F exm2263483 11 49208267 [A/G] NM_001014986,NM_001193471,NM_001193473,NM_004476,NM_001193472 FOLH1,FOLH1,FOLH1,FOLH1,FOLH1 EXON Missense_R190W,Missense_R175W,Silent,Missense_R190W,Missense_R175W exm2263485 11 49214394 [A/G] NM_001014986,NM_001193471,NM_001193473,NM_004476,NM_001193472 FOLH1,FOLH1,FOLH1,FOLH1,FOLH1 EXON Missense_S155L,Missense_S140L,Silent,Missense_S155L,Missense_S140L exm906907 11 49221914 [C/G] NM_001014986,NM_001193471,NM_001193473,NM_004476,NM_001193472 FOLH1,FOLH1,FOLH1,FOLH1,FOLH1 EXON Missense_E102Q,Missense_E87Q,Silent,Missense_E102Q,Missense_E87Q exm2263486 11 49227620 [A/G] NM_001014986,NM_001193471,NM_001193473,NM_004476,NM_001193472 FOLH1,FOLH1,FOLH1,FOLH1,FOLH1 EXON Missense_Y75H,Missense_Y60H,Silent,Missense_Y75H,Missense_Y60H exm2259798 11 49377760 [A/C] exm906965 11 49974473 [T/C] NM_001001955 OR4C13 EXON Missense_C167R exm906968 11 49974516 [T/C] NM_001001955 OR4C13 EXON Missense_T181I exm906970 11 49974527 [C/G] NM_001001955 OR4C13 EXON Missense_L185V exm906975 11 49974626 [A/G] NM_001001955 OR4C13 EXON Missense_V218I exm2218713 11 49974659 [T/G] NM_001001955 OR4C13 EXON Nonsense_E229X exm907006 11 50003245 [T/C] NM_001005270 OR4C12 EXON Missense_I265V exm907008 11 50003265 [T/C] NM_001005270 OR4C12 EXON Missense_R258H exm907009 11 50003266 [A/G] NM_001005270 OR4C12 EXON Missense_R258C exm907010 11 50003290 [T/C] NM_001005270 OR4C12 EXON Missense_V250M exm907021 11 50003428 [T/G] NM_001005270 OR4C12 EXON Missense_I204L exm907024 11 50003469 [A/G] NM_001005270 OR4C12 EXON Missense_T190I exm907025 11 50003508 [T/C] NM_001005270 OR4C12 EXON Missense_C177Y exm-rs7103246 11 50367359 [T/C] exm2264426 11 50495067 [A/C] exm2271608 11 50630255 [T/G] exm2267270 11 51391587 [A/G] exm907047 11 51411461 [T/G] NM_001005272 OR4A5 EXON Missense_S312Y exm907048 11 51411471 [A/C] NM_001005272 OR4A5 EXON Nonsense_G309X exm907050 11 51411510 [T/C] NM_001005272 OR4A5 EXON Missense_E296K exm907054 11 51411542 [G/C] NM_001005272 OR4A5 EXON Missense_T285R exm907055 11 51411543 [T/C] NM_001005272 OR4A5 EXON Missense_T285A exm907062 11 51411634 [T/C] NM_001005272 OR4A5 EXON Missense_I254M exm907067 11 51411678 [T/C] NM_001005272 OR4A5 EXON Missense_G240S exm907069 11 51411740 [A/T] NM_001005272 OR4A5 EXON Missense_L219Q exm907079 11 51411879 [A/G] NM_001005272 OR4A5 EXON Missense_H173Y exm907123 11 51412211 [A/G] NM_001005272 OR4A5 EXON Missense_A62V exm2218724 11 51412245 [T/G] NM_001005272 OR4A5 EXON Missense_P51T exm-rs5017948 11 51414218 [A/T] exm907156 11 51515417 [A/C] NM_001004703 OR4C46 EXON Missense_T46P exm907172 11 51515484 [T/A] NM_001004703 OR4C46 EXON Missense_D68V exm907176 11 51515546 [A/G] NM_001004703 OR4C46 EXON Missense_A89T exm2218728 11 51515896 [A/C] NM_001004703 OR4C46 EXON Nonsense_C205X exm907215 11 51515912 [T/C] NM_001004703 OR4C46 EXON Missense_L211F exm907248 11 55029751 [A/G] NM_024114 TRIM48 EXON Missense_R3Q exm2267271 11 55079522 [A/G] exm907321 11 55110761 [T/G] NM_001005274 OR4A16 EXON Missense_F29V exm907323 11 55110770 [A/G] NM_001005274 OR4A16 EXON Missense_I32V exm907324 11 55110804 [T/C] NM_001005274 OR4A16 EXON Missense_I43T exm907325 11 55110806 [T/G] NM_001005274 OR4A16 EXON Missense_W44G exm907326 11 55110807 [A/G] NM_001005274 OR4A16 EXON Nonsense_W44X exm907327 11 55110809 [T/G] NM_001005274 OR4A16 EXON Missense_V45L exm2276171 11 55110941 [A/G] NM_001005274 OR4A16 EXON Missense_A89T exm907350 11 55110989 [C/G] NM_001005274 OR4A16 EXON Missense_L105V exm2276172 11 55111009 [A/C] NM_001005274 OR4A16 EXON Missense_F111L exm1716985 11 55111082 [T/C] NM_001005274 OR4A16 EXON Nonsense_R136X exm907362 11 55111083 [A/G] NM_001005274 OR4A16 EXON Missense_R136Q exm907363 11 55111086 [A/T] NM_001005274 OR4A16 EXON Missense_L137Q exm907366 11 55111118 [A/G] NM_001005274 OR4A16 EXON Missense_I148V exm907367 11 55111142 [A/G] NM_001005274 OR4A16 EXON Missense_V156I exm907370 11 55111172 [T/A] NM_001005274 OR4A16 EXON Missense_I166F exm907374 11 55111200 [T/C] NM_001005274 OR4A16 EXON Missense_S175F exm907378 11 55111238 [A/C] NM_001005274 OR4A16 EXON Missense_L188I exm907384 11 55111284 [T/C] NM_001005274 OR4A16 EXON Missense_I203T exm907387 11 55111298 [A/G] NM_001005274 OR4A16 EXON Missense_I208V exm907406 11 55111500 [T/C] NM_001005274 OR4A16 EXON Missense_I275T exm907410 11 55111584 [A/T] NM_001005274 OR4A16 EXON Missense_K303M exm-rs7928221 11 55123720 [T/C] exm907417 11 55135417 [T/C] NM_001005275 OR4A15 EXON Nonsense_R20X exm907418 11 55135435 [T/C] NM_001005275 OR4A15 EXON Missense_P26S exm907419 11 55135447 [C/G] NM_001005275 OR4A15 EXON Missense_H30D exm907422 11 55135480 [A/T] NM_001005275 OR4A15 EXON Missense_I41F exm907427 11 55135541 [T/A] NM_001005275 OR4A15 EXON Missense_L61Q exm907432 11 55135569 [A/C] NM_001005275 OR4A15 EXON Missense_N70K exm1717004 11 55135658 [T/G] NM_001005275 OR4A15 EXON Missense_V100G exm907444 11 55135807 [T/C] NM_001005275 OR4A15 EXON Nonsense_R150X exm907456 11 55135963 [T/A] NM_001005275 OR4A15 EXON Missense_I202F exm907469 11 55136114 [G/C] NM_001005275 OR4A15 EXON Missense_S252C exm907470 11 55136125 [T/C] NM_001005275 OR4A15 EXON Nonsense_Q256X exm907472 11 55136143 [T/C] NM_001005275 OR4A15 EXON Nonsense_R262X exm907473 11 55136149 [A/G] NM_001005275 OR4A15 EXON Missense_A264T exm907476 11 55136173 [A/G] NM_001005275 OR4A15 EXON Missense_V272I exm907482 11 55136219 [T/C] NM_001005275 OR4A15 EXON Missense_A287V exm907487 11 55136279 [T/C] NM_001005275 OR4A15 EXON Missense_T307I exm907490 11 55136333 [T/C] NM_001005275 OR4A15 EXON Missense_A325V exm907492 11 55136345 [T/A] NM_001005275 OR4A15 EXON Missense_L329H exm2249983 11 55305406 [T/G] exm907498 11 55321823 [T/A] NM_001001920 OR4C15 EXON Missense_L14H exm907505 11 55321912 [T/C] NM_001001920 OR4C15 EXON Missense_P44S exm907508 11 55321946 [T/C] NM_001001920 OR4C15 EXON Missense_M55T exm907510 11 55321975 [A/G] NM_001001920 OR4C15 EXON Missense_V65I exm907511 11 55321978 [T/C] NM_001001920 OR4C15 EXON Missense_L66F exm907512 11 55322020 [T/C] NM_001001920 OR4C15 EXON Missense_F80L exm907517 11 55322099 [A/C] NM_001001920 OR4C15 EXON Missense_A106D exm1717479 11 55322140 [T/C] NM_001001920 OR4C15 EXON Missense_S120P exm907524 11 55322167 [C/G] NM_001001920 OR4C15 EXON Missense_V129L exm907526 11 55322188 [A/G] NM_001001920 OR4C15 EXON Missense_V136I exm907528 11 55322219 [G/C] NM_001001920 OR4C15 EXON Missense_S146C exm907533 11 55322282 [A/T] NM_001001920 OR4C15 EXON Missense_V167D exm907537 11 55322306 [A/G] NM_001001920 OR4C15 EXON Missense_R175H exm907543 11 55322378 [A/G] NM_001001920 OR4C15 EXON Missense_G199E exm907545 11 55322393 [A/G] NM_001001920 OR4C15 EXON Missense_G204E exm907550 11 55322464 [A/C] NM_001001920 OR4C15 EXON Missense_N228H exm907554 11 55322500 [T/C] NM_001001920 OR4C15 EXON Missense_L240F exm907558 11 55322539 [A/G] NM_001001920 OR4C15 EXON Missense_V253I exm907559 11 55322606 [T/C] NM_001001920 OR4C15 EXON Missense_L275S exm907570 11 55322639 [A/G] NM_001001920 OR4C15 EXON Missense_R286H exm907578 11 55322715 [T/G] NM_001001920 OR4C15 EXON Nonsense_Y311X exm907584 11 55322785 [T/C] NM_001001920 OR4C15 EXON Missense_L335F exm907585 11 55322795 [T/G] NM_001001920 OR4C15 EXON Missense_L338W exm907586 11 55322818 [T/G] NM_001001920 OR4C15 EXON Nonsense_E346X exm907589 11 55339605 [A/T] NM_001004701 OR4C16 EXON Missense_M1K exm907592 11 55339652 [T/C] NM_001004701 OR4C16 EXON Nonsense_Q17X exm907593 11 55339676 [T/G] NM_001004701 OR4C16 EXON Missense_V25L exm907598 11 55339704 [T/G] NM_001004701 OR4C16 EXON Missense_L34W exm907603 11 55339746 [A/C] NM_001004701 OR4C16 EXON Missense_K48T exm907604 11 55339748 [A/G] NM_001004701 OR4C16 EXON Missense_T49A exm907615 11 55339829 [A/G] NM_001004701 OR4C16 EXON Missense_T76A exm907617 11 55339848 [A/G] NM_001004701 OR4C16 EXON Missense_D82G exm907628 11 55339961 [T/C] NM_001004701 OR4C16 EXON Missense_R120C exm907629 11 55339962 [A/G] NM_001004701 OR4C16 EXON Missense_R120H exm907642 11 55340057 [A/G] NM_001004701 OR4C16 EXON Missense_V152M exm907651 11 55340170 [A/C] NM_001004701 OR4C16 EXON Missense_E189D exm907652 11 55340172 [A/C] NM_001004701 OR4C16 EXON Missense_T190N exm907654 11 55340204 [A/T] NM_001004701 OR4C16 EXON Missense_S201C exm907655 11 55340210 [A/G] NM_001004701 OR4C16 EXON Missense_A203T exm907658 11 55340315 [T/C] NM_001004701 OR4C16 EXON Missense_C238R exm907659 11 55340318 [A/G] NM_001004701 OR4C16 EXON Missense_V239I exm907660 11 55340357 [T/C] NM_001004701 OR4C16 EXON Missense_C252R exm907665 11 55340379 [T/C] NM_001004701 OR4C16 EXON Missense_L259P exm907668 11 55340387 [A/G] NM_001004701 OR4C16 EXON Missense_V262I exm2249985 11 55340464 [T/G] NM_001004701 OR4C16 EXON Synonymous_L287L exm907675 11 55340466 [A/G] NM_001004701 OR4C16 EXON Missense_K288R exm907677 11 55340477 [A/G] NM_001004701 OR4C16 EXON Missense_V292M exm907679 11 55340498 [A/C] NM_001004701 OR4C16 EXON Missense_L299I exm907680 11 55340506 [A/C] NM_001004701 OR4C16 EXON Missense_S301R exm907865 11 55432646 [A/G] NM_001004704 OR4C6 EXON Missense_E2K exm907866 11 55432668 [A/C] NM_001004704 OR4C6 EXON Missense_E9A exm907869 11 55432740 [A/G] NM_001004704 OR4C6 EXON Missense_Y33C exm907872 11 55432823 [A/C] NM_001004704 OR4C6 EXON Missense_L61I exm907874 11 55432851 [T/C] NM_001004704 OR4C6 EXON Missense_M70T exm907875 11 55432865 [A/G] NM_001004704 OR4C6 EXON Missense_V75I exm907884 11 55432968 [T/G] NM_001004704 OR4C6 EXON Missense_G109V exm1717599 11 55432976 [G/C] NM_001004704 OR4C6 EXON Missense_L112V exm907888 11 55433010 [A/C] NM_001004704 OR4C6 EXON Missense_A123D exm907891 11 55433040 [T/C] NM_001004704 OR4C6 EXON Missense_I133T exm907898 11 55433102 [A/G] NM_001004704 OR4C6 EXON Missense_A154T exm1717602 11 55433161 [A/T] NM_001004704 OR4C6 EXON Missense_D173E exm907904 11 55433266 [G/C] NM_001004704 OR4C6 EXON Missense_I208M exm907905 11 55433292 [T/C] NM_001004704 OR4C6 EXON Missense_T217M exm907909 11 55433312 [A/C] NM_001004704 OR4C6 EXON Missense_K224Q exm907910 11 55433333 [T/C] NM_001004704 OR4C6 EXON Missense_R231W exm907921 11 55433564 [A/G] NM_001004704 OR4C6 EXON Missense_G308R exm907925 11 55540964 [T/G] NM_001001967 OR5D13 EXON Missense_L17F exm907927 11 55541019 [A/G] NM_001001967 OR5D13 EXON Missense_V36I exm907930 11 55541098 [A/G] NM_001001967 OR5D13 EXON Missense_C62Y exm907937 11 55541254 [T/C] NM_001001967 OR5D13 EXON Missense_T114I exm907938 11 55541265 [A/G] NM_001001967 OR5D13 EXON Missense_A118T exm907939 11 55541284 [A/G] NM_001001967 OR5D13 EXON Missense_R124H exm2277001 11 55541505 [T/C] NM_001001967 OR5D13 EXON Nonsense_Q198X exm907945 11 55541509 [A/G] NM_001001967 OR5D13 EXON Missense_R199K exm907946 11 55541521 [A/T] NM_001001967 OR5D13 EXON Missense_I203N exm907950 11 55541602 [T/C] NM_001001967 OR5D13 EXON Missense_M230T exm907952 11 55541620 [T/G] NM_001001967 OR5D13 EXON Missense_R236L exm907961 11 55563035 [A/G] NM_001004735 OR5D14 EXON Missense_M2V exm907965 11 55563159 [A/G] NM_001004735 OR5D14 EXON Missense_G43E exm907970 11 55563221 [T/G] NM_001004735 OR5D14 EXON Missense_F64V exm907974 11 55563336 [T/A] NM_001004735 OR5D14 EXON Missense_Q102L exm907975 11 55563362 [A/G] NM_001004735 OR5D14 EXON Missense_V111M exm1717669 11 55563402 [A/G] NM_001004735 OR5D14 EXON Missense_R124H exm907985 11 55563608 [A/G] NM_001004735 OR5D14 EXON Missense_D193N exm907987 11 55563619 [C/G] NM_001004735 OR5D14 EXON Missense_I196M exm907993 11 55563737 [T/C] NM_001004735 OR5D14 EXON Missense_R236C exm907994 11 55563738 [A/G] NM_001004735 OR5D14 EXON Missense_R236H exm907996 11 55563761 [A/G] NM_001004735 OR5D14 EXON Missense_A244T exm907997 11 55563776 [T/G] NM_001004735 OR5D14 EXON Missense_S249A exm907999 11 55563792 [A/G] NM_001004735 OR5D14 EXON Missense_H254R exm908002 11 55563846 [A/C] NM_001004735 OR5D14 EXON Missense_T272K exm1717672 11 55563868 [T/G] NM_001004735 OR5D14 EXON Missense_F279L exm908006 11 55563875 [T/G] NM_001004735 OR5D14 EXON Missense_V282F exm908007 11 55563900 [T/C] NM_001004735 OR5D14 EXON Missense_L290P exm1717675 11 55563926 [A/G] NM_001004735 OR5D14 EXON Missense_V299M exm908020 11 55579078 [T/A] NM_001004738 OR5L1 EXON Missense_I46F exm908037 11 55579291 [A/G] NM_001004738 OR5L1 EXON Missense_V117M exm908047 11 55579400 [T/C] NM_001004738 OR5L1 EXON Missense_T153M exm908065 11 55579657 [T/C] NM_001004738 OR5L1 EXON Missense_S239P exm908066 11 55579674 [A/C] NM_001004738 OR5L1 EXON Missense_H244Q exm908071 11 55579783 [A/G] NM_001004738 OR5L1 EXON Missense_V281M exm908074 11 55579801 [T/C] NM_001004738 OR5L1 EXON Missense_S287P exm908083 11 55587212 [A/G] NM_001001952 OR5D18 EXON Missense_Y36C exm1717709 11 55587311 [T/G] NM_001001952 OR5D18 EXON Missense_F69C exm908088 11 55587340 [T/G] NM_001001952 OR5D18 EXON Missense_A79S exm908089 11 55587391 [A/T] NM_001001952 OR5D18 EXON Missense_L96I exm908095 11 55587457 [A/G] NM_001001952 OR5D18 EXON Missense_V118M exm908097 11 55587511 [A/G] NM_001001952 OR5D18 EXON Missense_N136D exm908102 11 55587587 [T/C] NM_001001952 OR5D18 EXON Missense_T161M exm908104 11 55587610 [T/A] NM_001001952 OR5D18 EXON Missense_F169I exm2218772 11 55587692 [A/G] NM_001001952 OR5D18 EXON Missense_N196S exm908108 11 55587695 [A/G] NM_001001952 OR5D18 EXON Missense_Q197R exm1717718 11 55587748 [A/G] NM_001001952 OR5D18 EXON Missense_V215I exm908114 11 55587809 [A/G] NM_001001952 OR5D18 EXON Missense_R235H exm908116 11 55587812 [A/G] NM_001001952 OR5D18 EXON Missense_R236H exm908132 11 55594936 [T/G] NM_001004739 OR5L2 EXON Missense_M81R exm908138 11 55595059 [A/G] NM_001004739 OR5L2 EXON Missense_R122H exm908146 11 55595152 [T/C] NM_001004739 OR5L2 EXON Missense_T153M exm908161 11 55595340 [A/T] NM_001004739 OR5L2 EXON Missense_T216S exm908166 11 55595401 [A/G] NM_001004739 OR5L2 EXON Missense_K236R exm908169 11 55595455 [T/C] NM_001004739 OR5L2 EXON Missense_T254I exm908170 11 55595464 [A/C] NM_001004739 OR5L2 EXON Missense_Y257S exm908173 11 55595503 [T/C] NM_001004739 OR5L2 EXON Missense_V270A exm908182 11 55595611 [A/G] NM_001004739 OR5L2 EXON Missense_G306D exm908201 11 55606522 [T/C] NM_001005496 OR5D16 EXON Missense_C99R exm908210 11 55606693 [A/G] NM_001005496 OR5D16 EXON Missense_A156T exm908212 11 55606711 [A/G] NM_001005496 OR5D16 EXON Missense_A162T exm908213 11 55606712 [A/C] NM_001005496 OR5D16 EXON Missense_A162E exm2218775 11 55607114 [A/G] NM_001005496 OR5D16 EXON Missense_N296S exm908241 11 55607207 [A/G] NM_001005496 OR5D16 EXON Missense_E327G exm908259 11 55653660 [A/T] NM_032681 TRIM51 EXON Missense_L158Q exm908323 11 55659089 [T/A] NM_032681 TRIM51 EXON Missense_F447Y exm908325 11 55681130 [T/A] NM_001001960 OR5W2 EXON Missense_F310Y exm908326 11 55681149 [G/C] NM_001001960 OR5W2 EXON Missense_L304V exm1717797 11 55681201 [T/G] NM_001001960 OR5W2 EXON Missense_N286K exm908330 11 55681277 [T/C] NM_001001960 OR5W2 EXON Missense_R261Q exm908339 11 55681416 [A/G] NM_001001960 OR5W2 EXON Missense_F215L exm908344 11 55681494 [A/G] NM_001001960 OR5W2 EXON Missense_R189C exm908346 11 55681514 [A/G] NM_001001960 OR5W2 EXON Missense_P182L exm908348 11 55681521 [A/C] NM_001001960 OR5W2 EXON Missense_D180Y exm908351 11 55681566 [A/G] NM_001001960 OR5W2 EXON Missense_R165C exm908354 11 55681580 [A/G] NM_001001960 OR5W2 EXON Missense_M160T exm908355 11 55681583 [T/C] NM_001001960 OR5W2 EXON Missense_H159R exm908358 11 55681664 [T/G] NM_001001960 OR5W2 EXON Missense_Y132S exm908359 11 55681691 [T/A] NM_001001960 OR5W2 EXON Missense_Y123F exm908360 11 55681694 [T/C] NM_001001960 OR5W2 EXON Missense_R122Q exm908361 11 55681835 [A/G] NM_001001960 OR5W2 EXON Missense_T75I exm908362 11 55681865 [T/C] NM_001001960 OR5W2 EXON Missense_H65R exm908366 11 55681934 [T/C] NM_001001960 OR5W2 EXON Missense_N42S exm2249989 11 55681999 [A/G] NM_001001960 OR5W2 EXON Synonymous_N20N exm908368 11 55681999 [A/G] NM_001001960 OR5W2 EXON Synonymous_N20N exm908374 11 55702939 [A/G] NM_006637 OR5I1 EXON Missense_S313F exm908375 11 55702961 [T/C] NM_006637 OR5I1 EXON Missense_V306I exm908379 11 55703011 [A/G] NM_006637 OR5I1 EXON Missense_P289L exm908386 11 55703187 [G/C] NM_006637 OR5I1 EXON Missense_I230M exm908389 11 55703226 [G/C] NM_006637 OR5I1 EXON Missense_I217M exm908395 11 55703306 [A/C] NM_006637 OR5I1 EXON Missense_C191G exm908402 11 55703383 [T/G] NM_006637 OR5I1 EXON Missense_A165D exm908404 11 55703411 [T/C] NM_006637 OR5I1 EXON Missense_M156V exm908405 11 55703450 [A/T] NM_006637 OR5I1 EXON Missense_C143S exm908411 11 55703650 [A/G] NM_006637 OR5I1 EXON Missense_F76S exm908412 11 55703653 [T/C] NM_006637 OR5I1 EXON Missense_Y75C exm908413 11 55703698 [A/G] NM_006637 OR5I1 EXON Missense_P60L exm908414 11 55703728 [A/G] NM_006637 OR5I1 EXON Missense_L50S exm2249990 11 55703850 [T/C] NM_006637 OR5I1 EXON Synonymous_T9T exm908424 11 55703861 [T/C] NM_006637 OR5I1 EXON Missense_R6G exm908439 11 55735176 [A/G] NM_001005491 OR10AG1 EXON Missense_P255L exm908441 11 55735188 [T/A] NM_001005491 OR10AG1 EXON Nonsense_L251X exm1717878 11 55735224 [A/G] NM_001005491 OR10AG1 EXON Missense_V239A exm908444 11 55735264 [A/C] NM_001005491 OR10AG1 EXON Missense_A226S exm908447 11 55735273 [T/C] NM_001005491 OR10AG1 EXON Missense_R223G exm908451 11 55735366 [T/C] NM_001005491 OR10AG1 EXON Missense_V192I exm908458 11 55735518 [A/G] NM_001005491 OR10AG1 EXON Missense_T141I exm908465 11 55735602 [T/C] NM_001005491 OR10AG1 EXON Missense_R113H exm908469 11 55735649 [A/C] NM_001005491 OR10AG1 EXON Missense_M97I exm908471 11 55735681 [G/C] NM_001005491 OR10AG1 EXON Missense_A87P exm908473 11 55735705 [T/G] NM_001005491 OR10AG1 EXON Missense_Q79K exm908475 11 55735776 [T/C] NM_001005491 OR10AG1 EXON Missense_S55N exm908476 11 55735807 [T/C] NM_001005491 OR10AG1 EXON Missense_A45T exm908479 11 55735813 [G/C] NM_001005491 OR10AG1 EXON Missense_H43D exm908480 11 55735848 [A/G] NM_001005491 OR10AG1 EXON Missense_M31T exm908495 11 55761251 [A/G] NM_003697 OR5F1 EXON Missense_M284T exm908497 11 55761270 [A/G] NM_003697 OR5F1 EXON Missense_Y278H exm908500 11 55761281 [A/G] NM_003697 OR5F1 EXON Missense_A274V exm908517 11 55761479 [A/G] NM_003697 OR5F1 EXON Missense_V208A exm908521 11 55761528 [T/C] NM_003697 OR5F1 EXON Missense_T192A exm908531 11 55761734 [T/A] NM_003697 OR5F1 EXON Missense_Y123F exm908543 11 55761867 [A/G] NM_003697 OR5F1 EXON Missense_P79S exm2249992 11 55761880 [T/C] NM_003697 OR5F1 EXON Synonymous_S74S exm908550 11 55762038 [T/C] NM_003697 OR5F1 EXON Missense_E22K exm908558 11 55797896 [A/T] NM_001001921 OR5AS1 EXON Missense_M1K exm908561 11 55798021 [A/T] NM_001001921 OR5AS1 EXON Missense_I43L exm908562 11 55798035 [T/G] NM_001001921 OR5AS1 EXON Missense_I47M exm908565 11 55798112 [T/G] NM_001001921 OR5AS1 EXON Missense_C73F exm1717967 11 55798145 [A/G] NM_001001921 OR5AS1 EXON Missense_N84S exm908568 11 55798153 [A/G] NM_001001921 OR5AS1 EXON Missense_A87T exm908569 11 55798180 [C/G] NM_001001921 OR5AS1 EXON Missense_G96R exm908570 11 55798184 [G/C] NM_001001921 OR5AS1 EXON Missense_C97S exm908577 11 55798259 [T/G] NM_001001921 OR5AS1 EXON Missense_R122L exm908582 11 55798330 [A/G] NM_001001921 OR5AS1 EXON Missense_V146M exm908586 11 55798393 [T/A] NM_001001921 OR5AS1 EXON Missense_S167T exm908590 11 55798413 [C/G] NM_001001921 OR5AS1 EXON Missense_I173M exm908592 11 55798421 [A/G] NM_001001921 OR5AS1 EXON Missense_H176R exm2218786 11 55798465 [A/G] NM_001001921 OR5AS1 EXON Missense_D191N exm908599 11 55798627 [A/C] NM_001001921 OR5AS1 EXON Missense_L245I exm908600 11 55798631 [A/T] NM_001001921 OR5AS1 EXON Missense_I246K exm908602 11 55798670 [A/G] NM_001001921 OR5AS1 EXON Missense_Y259C exm908611 11 55798811 [A/G] NM_001001921 OR5AS1 EXON Missense_E306G exm908612 11 55798823 [A/G] NM_001001921 OR5AS1 EXON Missense_Y310C exm908614 11 55798847 [A/G] NM_001001921 OR5AS1 EXON Missense_R318H exm908615 11 55798851 [A/T] NM_001001921 OR5AS1 EXON Missense_L319F exm908626 11 55861030 [T/G] NM_001003750 OR8I2 EXON Missense_V83L exm908630 11 55861049 [A/G] NM_001003750 OR8I2 EXON Missense_R89Q exm908636 11 55861148 [A/G] NM_001003750 OR8I2 EXON Missense_R122H exm908637 11 55861151 [A/G] NM_001003750 OR8I2 EXON Missense_Y123C exm908638 11 55861153 [A/G] NM_001003750 OR8I2 EXON Missense_I124V exm908642 11 55861201 [T/G] NM_001003750 OR8I2 EXON Missense_V140L exm908646 11 55861234 [A/G] NM_001003750 OR8I2 EXON Missense_I151V exm908651 11 55861288 [T/C] NM_001003750 OR8I2 EXON Missense_C169R exm908652 11 55861297 [A/G] NM_001003750 OR8I2 EXON Missense_S172G exm908656 11 55861315 [T/G] NM_001003750 OR8I2 EXON Missense_C178G exm908657 11 55861316 [T/G] NM_001003750 OR8I2 EXON Missense_C178F exm908658 11 55861317 [T/G] NM_001003750 OR8I2 EXON Missense_C178W exm908659 11 55861318 [A/G] NM_001003750 OR8I2 EXON Missense_D179N exm908660 11 55861319 [A/C] NM_001003750 OR8I2 EXON Missense_D179A exm908661 11 55861320 [A/C] NM_001003750 OR8I2 EXON Missense_D179E exm908662 11 55861321 [A/C] NM_001003750 OR8I2 EXON Missense_T180P exm908668 11 55861484 [A/C] NM_001003750 OR8I2 EXON Missense_Q234P exm908669 11 55861490 [T/C] NM_001003750 OR8I2 EXON Missense_A236V exm908671 11 55861523 [T/C] NM_001003750 OR8I2 EXON Missense_V247A exm908672 11 55861526 [A/C] NM_001003750 OR8I2 EXON Missense_T248N exm908677 11 55861580 [T/C] NM_001003750 OR8I2 EXON Missense_S266L exm908679 11 55861614 [A/T] NM_001003750 OR8I2 EXON Nonsense_Y277X exm1718019 11 55861616 [A/C] NM_001003750 OR8I2 EXON Missense_T278K exm908685 11 55872537 [A/G] NM_001005200 OR8H2 EXON Missense_N7D exm908686 11 55872566 [A/G] NM_001005200 OR8H2 EXON Missense_M16I exm908688 11 55872596 [A/G] NM_001005200 OR8H2 EXON Missense_M26I exm908706 11 55872832 [T/C] NM_001005200 OR8H2 EXON Missense_A105V exm908720 11 55872990 [C/G] NM_001005200 OR8H2 EXON Missense_V158L exm908723 11 55873013 [T/A] NM_001005200 OR8H2 EXON Missense_R165S exm908724 11 55873024 [A/G] NM_001005200 OR8H2 EXON Missense_Y169C exm908735 11 55873135 [T/C] NM_001005200 OR8H2 EXON Missense_T206I exm908736 11 55873144 [T/C] NM_001005200 OR8H2 EXON Missense_V209A exm908746 11 55873293 [T/C] NM_001005200 OR8H2 EXON Missense_Y259H exm2218789 11 55873303 [T/C] NM_001005200 OR8H2 EXON Missense_P262L exm908755 11 55873401 [A/G] NM_001005200 OR8H2 EXON Missense_K295E exm908756 11 55873416 [T/G] NM_001005200 OR8H2 EXON Missense_A300S exm908767 11 55889895 [T/C] NM_001005201 OR8H3 EXON Missense_T16M exm908799 11 55890432 [G/C] NM_001005201 OR8H3 EXON Missense_T195S exm908810 11 55890609 [T/C] NM_001005201 OR8H3 EXON Missense_T254I exm908814 11 55890654 [A/G] NM_001005201 OR8H3 EXON Missense_G269E exm908829 11 55904382 [A/C] NM_001004064 OR8J3 EXON Missense_D271E exm908830 11 55904389 [T/C] NM_001004064 OR8J3 EXON Missense_D269G exm908831 11 55904404 [A/G] NM_001004064 OR8J3 EXON Missense_T264I exm908832 11 55904422 [A/G] NM_001004064 OR8J3 EXON Missense_M258T exm908843 11 55904573 [A/C] NM_001004064 OR8J3 EXON Missense_V208F exm908844 11 55904581 [T/G] NM_001004064 OR8J3 EXON Missense_T205K exm908846 11 55904695 [T/G] NM_001004064 OR8J3 EXON Missense_S167Y exm908847 11 55904696 [A/T] NM_001004064 OR8J3 EXON Missense_S167T exm908870 11 55905194 [T/C] NM_001004064 OR8J3 EXON Missense_M1V exm908874 11 55926956 [A/T] NM_001004058 OR8K5 EXON Missense_L280I exm1718146 11 55926973 [T/G] NM_001004058 OR8K5 EXON Missense_A274D exm908878 11 55927028 [A/G] NM_001004058 OR8K5 EXON Missense_L256F exm908889 11 55927310 [T/C] NM_001004058 OR8K5 EXON Missense_K162E exm908890 11 55927369 [T/C] NM_001004058 OR8K5 EXON Missense_H142R exm908891 11 55927379 [A/G] NM_001004058 OR8K5 EXON Nonsense_R139X exm908894 11 55927431 [T/G] NM_001004058 OR8K5 EXON Missense_D121E exm908895 11 55927442 [T/C] NM_001004058 OR8K5 EXON Missense_M118V exm908901 11 55927529 [A/G] NM_001004058 OR8K5 EXON Nonsense_R89X exm908904 11 55927584 [T/A] NM_001004058 OR8K5 EXON Missense_D70E exm908905 11 55927591 [A/G] NM_001004058 OR8K5 EXON Missense_F68S exm908913 11 55927697 [T/C] NM_001004058 OR8K5 EXON Missense_V33I exm1718158 11 55927736 [A/G] NM_001004058 OR8K5 EXON Missense_R20W exm908921 11 55927763 [T/C] NM_001004058 OR8K5 EXON Missense_E11K exm908922 11 55927777 [A/G] NM_001004058 OR8K5 EXON Missense_L6P exm908926 11 55944094 [A/G] NM_001005492 OR5J2 EXON Missense_M1V exm908937 11 55944226 [A/G] NM_001005492 OR5J2 EXON Missense_M45V exm908938 11 55944233 [T/C] NM_001005492 OR5J2 EXON Missense_L47P exm908939 11 55944242 [T/A] NM_001005492 OR5J2 EXON Missense_Q50L exm908941 11 55944250 [T/A] NM_001005492 OR5J2 EXON Missense_S53T exm908944 11 55944275 [T/A] NM_001005492 OR5J2 EXON Missense_F61Y exm908954 11 55944457 [T/C] NM_001005492 OR5J2 EXON Missense_R122C exm908955 11 55944458 [A/G] NM_001005492 OR5J2 EXON Missense_R122H exm908956 11 55944467 [T/C] NM_001005492 OR5J2 EXON Missense_A125V exm908958 11 55944501 [C/G] NM_001005492 OR5J2 EXON Missense_M136I exm908960 11 55944508 [A/G] NM_001005492 OR5J2 EXON Missense_R139G exm908964 11 55944610 [A/G] NM_001005492 OR5J2 EXON Missense_A173T exm908967 11 55944703 [A/G] NM_001005492 OR5J2 EXON Missense_G204R exm908971 11 55944779 [A/G] NM_001005492 OR5J2 EXON Missense_H229R exm908982 11 55945018 [T/C] NM_001005492 OR5J2 EXON Missense_H309Y exm2271504 11 55979266 [T/C] exm909004 11 55999950 [G/C] NM_001004746 OR5T2 EXON Missense_L238V exm909006 11 55999976 [A/G] NM_001004746 OR5T2 EXON Missense_S229F exm2274479 11 56000001 [A/G] NM_001004746 OR5T2 EXON Missense_P221S exm909012 11 56000020 [A/C] NM_001004746 OR5T2 EXON Missense_R214S exm909015 11 56000036 [T/C] NM_001004746 OR5T2 EXON Missense_G209E exm909018 11 56000079 [T/C] NM_001004746 OR5T2 EXON Missense_A195T exm909019 11 56000090 [T/C] NM_001004746 OR5T2 EXON Missense_G191D exm909031 11 56000288 [A/G] NM_001004746 OR5T2 EXON Missense_T125M exm909033 11 56000327 [T/C] NM_001004746 OR5T2 EXON Missense_Y112C exm909036 11 56000403 [G/C] NM_001004746 OR5T2 EXON Missense_V87L exm909039 11 56000471 [A/G] NM_001004746 OR5T2 EXON Missense_T64I exm909044 11 56000600 [T/G] NM_001004746 OR5T2 EXON Missense_S21Y exm909053 11 56019770 [T/C] NM_001004747 OR5T3 EXON Missense_P32L exm909054 11 56019782 [A/C] NM_001004747 OR5T3 EXON Missense_K36T exm909058 11 56019925 [T/G] NM_001004747 OR5T3 EXON Missense_W84G exm909069 11 56020049 [T/C] NM_001004747 OR5T3 EXON Missense_I125T exm909073 11 56020111 [T/G] NM_001004747 OR5T3 EXON Missense_A146S exm909095 11 56020438 [A/C] NM_001004747 OR5T3 EXON Missense_I255L exm909097 11 56020462 [T/G] NM_001004747 OR5T3 EXON Nonsense_G263X exm909104 11 56020615 [A/G] NM_001004747 OR5T3 EXON Missense_K314E exm909109 11 56020695 [A/C] NM_001004747 OR5T3 EXON Missense_K340N exm909113 11 56043134 [A/G] NM_001004745 OR5T1 EXON Missense_D7G exm1718269 11 56043172 [A/G] NM_001004745 OR5T1 EXON Missense_E20K exm909118 11 56043211 [T/C] NM_001004745 OR5T1 EXON Missense_F33L exm909121 11 56043293 [T/C] NM_001004745 OR5T1 EXON Missense_P60L exm909123 11 56043329 [A/G] NM_001004745 OR5T1 EXON Missense_Y72C exm909140 11 56043688 [A/G] NM_001004745 OR5T1 EXON Missense_N192D exm1718275 11 56043729 [A/C] NM_001004745 OR5T1 EXON Missense_H205Q exm909142 11 56043730 [A/G] NM_001004745 OR5T1 EXON Missense_V206I exm1718276 11 56043790 [T/G] NM_001004745 OR5T1 EXON Missense_V226F exm909156 11 56043923 [T/G] NM_001004745 OR5T1 EXON Missense_M270R exm909160 11 56043953 [T/C] NM_001004745 OR5T1 EXON Missense_S280L exm909175 11 56057898 [A/G] NM_001005199 OR8H1 EXON Missense_S214F exm909177 11 56057944 [A/G] NM_001005199 OR8H1 EXON Missense_H199Y exm909181 11 56057995 [A/G] NM_001005199 OR8H1 EXON Missense_P182S exm909184 11 56058079 [T/C] NM_001005199 OR8H1 EXON Missense_N154D exm909186 11 56058115 [T/C] NM_001005199 OR8H1 EXON Missense_A142T exm909187 11 56058151 [A/G] NM_001005199 OR8H1 EXON Missense_R130C exm909191 11 56058199 [A/G] NM_001005199 OR8H1 EXON Missense_L114F exm909205 11 56058474 [T/A] NM_001005199 OR8H1 EXON Missense_E22V exm909206 11 56058535 [T/C] NM_001005199 OR8H1 EXON Missense_G2S exm909215 11 56085831 [A/G] NM_001005202 OR8K3 EXON Missense_I17V exm909224 11 56086038 [A/G] NM_001005202 OR8K3 EXON Missense_V86I exm909229 11 56086110 [A/G] NM_001005202 OR8K3 EXON Missense_S110G exm909231 11 56086147 [T/G] NM_001005202 OR8K3 EXON Missense_L122R exm909235 11 56086258 [T/C] NM_001005202 OR8K3 EXON Missense_V159A exm909249 11 56086396 [T/C] NM_001005202 OR8K3 EXON Missense_I205T exm909251 11 56086440 [G/C] NM_001005202 OR8K3 EXON Missense_L220V exm909252 11 56086446 [T/C] NM_001005202 OR8K3 EXON Missense_L222F exm909254 11 56086498 [T/C] NM_001005202 OR8K3 EXON Missense_T239I exm909257 11 56086553 [C/G] NM_001005202 OR8K3 EXON Missense_M257I exm909261 11 56086560 [T/C] NM_001005202 OR8K3 EXON Nonsense_Q260X exm909264 11 56086607 [A/G] NM_001005202 OR8K3 EXON Missense_I275M exm909267 11 56086656 [T/C] NM_001005202 OR8K3 EXON Nonsense_R292X exm909271 11 56086683 [T/C] NM_001005202 OR8K3 EXON Nonsense_R301X exm909274 11 56113516 [T/C] NM_001002907 OR8K1 EXON Missense_M1T exm909278 11 56113575 [A/G] NM_001002907 OR8K1 EXON Missense_M21V exm909279 11 56113593 [A/C] NM_001002907 OR8K1 EXON Missense_P27T exm1718350 11 56113648 [T/G] NM_001002907 OR8K1 EXON Missense_V45G exm909284 11 56113764 [A/G] NM_001002907 OR8K1 EXON Missense_A84T exm909286 11 56113779 [A/G] NM_001002907 OR8K1 EXON Missense_V89I exm909287 11 56113785 [T/A] NM_001002907 OR8K1 EXON Missense_F91I exm909288 11 56113788 [T/A] NM_001002907 OR8K1 EXON Missense_I92L exm909299 11 56113944 [A/G] NM_001002907 OR8K1 EXON Missense_E144K exm2218802 11 56114074 [A/G] NM_001002907 OR8K1 EXON Missense_C187Y exm909304 11 56114105 [G/C] NM_001002907 OR8K1 EXON Missense_D197E exm909306 11 56114110 [A/T] NM_001002907 OR8K1 EXON Missense_N199I exm909308 11 56114153 [C/G] NM_001002907 OR8K1 EXON Missense_L213F exm909310 11 56114163 [T/C] NM_001002907 OR8K1 EXON Missense_L217F exm909311 11 56114170 [T/C] NM_001002907 OR8K1 EXON Missense_I219T exm909312 11 56114197 [T/C] NM_001002907 OR8K1 EXON Missense_L228P exm909316 11 56114281 [T/C] NM_001002907 OR8K1 EXON Missense_M256T exm909317 11 56114286 [T/A] NM_001002907 OR8K1 EXON Missense_Y258N exm909338 11 56127898 [T/C] NM_001005205 OR8J1 EXON Missense_M59T exm909353 11 56128081 [A/G] NM_001005205 OR8J1 EXON Missense_Y120C exm909376 11 56128324 [T/C] NM_001005205 OR8J1 EXON Missense_I201T exm909377 11 56128384 [T/C] NM_001005205 OR8J1 EXON Missense_I221T exm909378 11 56128406 [A/G] NM_001005205 OR8J1 EXON Missense_I228M exm1718374 11 56128510 [A/G] NM_001005205 OR8J1 EXON Missense_R263Q exm909384 11 56128517 [A/C] NM_001005205 OR8J1 EXON Missense_N265K exm909388 11 56128575 [A/T] NM_001005205 OR8J1 EXON Missense_M285L exm909394 11 56143103 [A/G] NM_001013356,NM_001005204 OR8U8,OR8U1 EXON Missense_A2T,Missense_A2T exm909395 11 56143108 [G/C] NM_001013356,NM_001005204 OR8U8,OR8U1 EXON Missense_H3Q,Missense_H3Q exm909397 11 56143113 [A/G] NM_001013356,NM_001005204 OR8U8,OR8U1 EXON Missense_N5S,Missense_N5S exm909412 11 56143250 [A/G] NM_001013356,NM_001005204 OR8U8,OR8U1 EXON Missense_A51T,Missense_A51T exm909417 11 56143261 [A/T] NM_001013356,NM_001005204 OR8U8,OR8U1 EXON Missense_S54R,Missense_S54R exm909419 11 56143274 [A/G] NM_001013356,NM_001005204 OR8U8,OR8U1 EXON Missense_M59V,Missense_M59V exm909423 11 56143338 [A/G] NM_001013356,NM_001005204 OR8U8,OR8U1 EXON Missense_K80R,Missense_K80R exm909426 11 56143392 [A/C] NM_001013356,NM_001005204 OR8U8,OR8U1 EXON Missense_A98D,Missense_A98D exm909427 11 56143394 [A/G] NM_001013356,NM_001005204 OR8U8,OR8U1 EXON Missense_T99A,Missense_T99A exm909436 11 56143424 [A/G] NM_001013356,NM_001005204 OR8U8,OR8U1 EXON Missense_I109V,Missense_I109V exm909458 11 56143544 [T/C] NM_001013356,NM_001005204 OR8U8,OR8U1 EXON Missense_Y149H,Missense_Y149H exm909469 11 56143593 [T/G] NM_001013356,NM_001005204 OR8U8,OR8U1 EXON Missense_R165L,Missense_R165L exm909472 11 56143632 [A/G] NM_001013356,NM_001005204 OR8U8,OR8U1 EXON Missense_Y178C,Missense_Y178C exm909483 11 56143715 [A/G] NM_001013356,NM_001005204 OR8U8,OR8U1 EXON Missense_M206V,Missense_M206V exm909485 11 56143717 [A/G] NM_001013356,NM_001005204 OR8U8,OR8U1 EXON Missense_M206I,Missense_M206I exm909489 11 56143729 [T/C] NM_001013356,NM_001005204 OR8U8,OR8U1 EXON Synonymous_S210S,Synonymous_S210S exm909490 11 56143730 [G/C] NM_001013356,NM_001005204 OR8U8,OR8U1 EXON Missense_L211V,Missense_L211V exm909492 11 56143767 [T/C] NM_001013356,NM_001005204 OR8U8,OR8U1 EXON Missense_S223F,Missense_S223F exm909513 11 56143919 [A/G] NM_001013356,NM_001005204 OR8U8,OR8U1 EXON Nonsense_W270X,Missense_A274T exm909514 11 56143936 [A/G] NM_001013356,NM_001005204 OR8U8,OR8U1 EXON Missense_Q276R,Synonymous_T279T exm909515 11 56143942 [T/C] NM_001013356,NM_001005204 OR8U8,OR8U1 EXON Missense_S278L,Synonymous_I281I exm909516 11 56143943 [A/G] NM_001013356,NM_001005204 OR8U8,OR8U1 EXON Synonymous_S278S,Missense_I282V exm909520 11 56143957 [T/C] NM_001013356,NM_001005204 OR8U8,OR8U1 EXON Missense_I283T,Synonymous_N286N exm909523 11 56143968 [A/G] NM_001013356,NM_001005204 OR8U8,OR8U1 EXON Silent,Missense_Y290C exm909527 11 56143977 [A/G] NM_001013356,NM_001005204 OR8U8,OR8U1 EXON Silent,Missense_Q293R exm909530 11 56143987 [T/G] NM_001013356,NM_001005204 OR8U8,OR8U1 EXON Silent,Missense_E296D exm909532 11 56143996 [A/T] NM_001013356,NM_001005204 OR8U8,OR8U1 EXON Silent,Missense_E299D exm-rs6591323 11 56180753 [A/G] NM_001013356 OR8U8 Silent exm909543 11 56184811 [T/C] NM_001013356,NM_001004744 OR8U8,OR5R1 EXON Silent,Missense_A300T exm909545 11 56184871 [T/C] NM_001013356,NM_001004744 OR8U8,OR5R1 EXON Silent,Missense_V280M exm909546 11 56184888 [A/G] NM_001013356,NM_001004744 OR8U8,OR5R1 EXON Silent,Missense_A274V exm909553 11 56185024 [A/G] NM_001013356,NM_001004744 OR8U8,OR5R1 EXON Silent,Missense_R229C exm909559 11 56185129 [T/C] NM_001013356,NM_001004744 OR8U8,OR5R1 EXON Silent,Missense_M194V exm909562 11 56185153 [T/C] NM_001013356,NM_001004744 OR8U8,OR5R1 EXON Silent,Missense_A186T exm909564 11 56185159 [A/G] NM_001013356,NM_001004744 OR8U8,OR5R1 EXON Silent,Missense_F184L exm909566 11 56185193 [C/G] NM_001013356,NM_001004744 OR8U8,OR5R1 EXON Silent,Missense_N172K exm909568 11 56185215 [T/C] NM_001013356,NM_001004744 OR8U8,OR5R1 EXON Silent,Missense_R165H exm909569 11 56185224 [A/G] NM_001013356,NM_001004744 OR8U8,OR5R1 EXON Silent,Missense_I162T exm909575 11 56185315 [A/G] NM_001013356,NM_001004744 OR8U8,OR5R1 EXON Silent,Missense_Y132H exm909577 11 56185341 [T/C] NM_001013356,NM_001004744 OR8U8,OR5R1 EXON Silent,Missense_Y123C exm909579 11 56185345 [A/G] NM_001013356,NM_001004744 OR8U8,OR5R1 EXON Silent,Missense_C122R exm909580 11 56185347 [T/C] NM_001013356,NM_001004744 OR8U8,OR5R1 EXON Silent,Missense_D121G exm909584 11 56185401 [T/C] NM_001013356,NM_001004744 OR8U8,OR5R1 EXON Silent,Missense_C103Y exm909595 11 56185549 [G/C] NM_001013356,NM_001004744 OR8U8,OR5R1 EXON Silent,Missense_R54G exm909596 11 56185557 [A/G] NM_001013356,NM_001004744 OR8U8,OR5R1 EXON Silent,Missense_I51T exm909601 11 56185647 [A/G] NM_001013356,NM_001004744 OR8U8,OR5R1 EXON Silent,Missense_P21L exm909603 11 56185689 [A/G] NM_001013356,NM_001004744 OR8U8,OR5R1 EXON Silent,Missense_I7T exm909606 11 56230010 [T/G] NM_001013356,NM_001004743 OR8U8,OR5M9 EXON Silent,Missense_L290M exm909607 11 56230069 [T/C] NM_001013356,NM_001004743 OR8U8,OR5M9 EXON Silent,Missense_K270R exm909608 11 56230074 [A/C] NM_001013356,NM_001004743 OR8U8,OR5M9 EXON Silent,Missense_Q268H exm909610 11 56230094 [A/T] NM_001013356,NM_001004743 OR8U8,OR5M9 EXON Silent,Missense_T262S exm909612 11 56230120 [A/G] NM_001013356,NM_001004743 OR8U8,OR5M9 EXON Silent,Missense_P253L exm2274481 11 56230174 [A/G] NM_001013356,NM_001004743 OR8U8,OR5M9 EXON Silent,Missense_A235V exm909619 11 56230238 [A/T] NM_001013356,NM_001004743 OR8U8,OR5M9 EXON Silent,Missense_I214F exm909622 11 56230253 [C/G] NM_001013356,NM_001004743 OR8U8,OR5M9 EXON Silent,Missense_L209V exm909624 11 56230268 [T/C] NM_001013356,NM_001004743 OR8U8,OR5M9 EXON Silent,Missense_N204D exm909626 11 56230318 [T/C] NM_001013356,NM_001004743 OR8U8,OR5M9 EXON Silent,Missense_C187Y exm909627 11 56230328 [T/G] NM_001013356,NM_001004743 OR8U8,OR5M9 EXON Silent,Missense_Q184K exm909628 11 56230334 [C/G] NM_001013356,NM_001004743 OR8U8,OR5M9 EXON Silent,Missense_L182V exm1718531 11 56230456 [T/C] NM_001013356,NM_001004743 OR8U8,OR5M9 EXON Silent,Missense_R141Q exm909634 11 56230463 [A/C] NM_001013356,NM_001004743 OR8U8,OR5M9 EXON Silent,Missense_C139G exm909636 11 56230486 [T/C] NM_001013356,NM_001004743 OR8U8,OR5M9 EXON Silent,Missense_G131D exm909643 11 56230589 [T/C] NM_001013356,NM_001004743 OR8U8,OR5M9 EXON Silent,Missense_V97M exm909649 11 56230678 [A/G] NM_001013356,NM_001004743 OR8U8,OR5M9 EXON Silent,Missense_A67V exm909653 11 56230777 [A/G] NM_001013356,NM_001004743 OR8U8,OR5M9 EXON Silent,Missense_M34T exm909688 11 56237482 [A/C] NM_001013356,NM_001004742 OR8U8,OR5M3 EXON Silent,Missense_L164F exm909689 11 56237486 [C/G] NM_001013356,NM_001004742 OR8U8,OR5M3 EXON Silent,Missense_G163A exm909690 11 56237487 [T/C] NM_001013356,NM_001004742 OR8U8,OR5M3 EXON Silent,Missense_G163S exm909695 11 56237553 [A/G] NM_001013356,NM_001004742 OR8U8,OR5M3 EXON Silent,Nonsense_R141X exm909697 11 56237564 [A/T] NM_001013356,NM_001004742 OR8U8,OR5M3 EXON Silent,Missense_V137D exm909698 11 56237565 [A/C] NM_001013356,NM_001004742 OR8U8,OR5M3 EXON Silent,Missense_V137F exm909708 11 56237609 [A/G] NM_001013356,NM_001004742 OR8U8,OR5M3 EXON Silent,Missense_M122T exm909713 11 56237655 [A/G] NM_001013356,NM_001004742 OR8U8,OR5M3 EXON Silent,Missense_H107Y exm909718 11 56237722 [T/A] NM_001013356,NM_001004742 OR8U8,OR5M3 EXON Silent,Missense_L84F exm909726 11 56237865 [T/C] NM_001013356,NM_001004742 OR8U8,OR5M3 EXON Silent,Missense_M37V exm909732 11 56237927 [A/G] NM_001013356,NM_001004742 OR8U8,OR5M3 EXON Silent,Missense_T16M exm909734 11 56237966 [T/C] NM_001013356,NM_001004742 OR8U8,OR5M3 EXON Silent,Missense_N3S exm909737 11 56257961 [T/C] NM_001013356,NM_001005282 OR8U8,OR5M8 EXON Silent,Missense_V296I exm909747 11 56258170 [T/A] NM_001013356,NM_001005282 OR8U8,OR5M8 EXON Silent,Missense_K226M exm909749 11 56258207 [A/G] NM_001013356,NM_001005282 OR8U8,OR5M8 EXON Silent,Missense_C214R exm909750 11 56258232 [T/G] NM_001013356,NM_001005282 OR8U8,OR5M8 EXON Silent,Missense_N205K exm909775 11 56258521 [A/T] NM_001013356,NM_001005282 OR8U8,OR5M8 EXON Silent,Missense_V109D exm909776 11 56258566 [A/G] NM_001013356,NM_001005282 OR8U8,OR5M8 EXON Silent,Missense_P94L exm909789 11 56258735 [T/C] NM_001013356,NM_001005282 OR8U8,OR5M8 EXON Silent,Missense_V38M exm1718625 11 56258737 [A/G] NM_001013356,NM_001005282 OR8U8,OR5M8 EXON Silent,Missense_T37M exm909794 11 56258791 [T/C] NM_001013356,NM_001005282 OR8U8,OR5M8 EXON Silent,Missense_R19H exm909798 11 56309818 [T/A] NM_001013356,NM_001005245 OR8U8,OR5M11 EXON Silent,Missense_X306R exm909800 11 56309889 [A/G] NM_001013356,NM_001005245 OR8U8,OR5M11 EXON Silent,Missense_P282L exm909806 11 56310027 [A/G] NM_001013356,NM_001005245 OR8U8,OR5M11 EXON Silent,Missense_A236V exm909808 11 56310057 [T/C] NM_001013356,NM_001005245 OR8U8,OR5M11 EXON Silent,Missense_R226Q exm909817 11 56310189 [A/G] NM_001013356,NM_001005245 OR8U8,OR5M11 EXON Silent,Missense_P182L exm909818 11 56310192 [A/G] NM_001013356,NM_001005245 OR8U8,OR5M11 EXON Silent,Missense_P181L exm909819 11 56310222 [T/C] NM_001013356,NM_001005245 OR8U8,OR5M11 EXON Silent,Missense_S171N exm909829 11 56310373 [A/G] NM_001013356,NM_001005245 OR8U8,OR5M11 EXON Silent,Missense_R121C exm909834 11 56310498 [A/G] NM_001013356,NM_001005245 OR8U8,OR5M11 EXON Silent,Missense_P79L exm909838 11 56310564 [A/G] NM_001013356,NM_001005245 OR8U8,OR5M11 EXON Silent,Missense_T57M exm909841 11 56310621 [A/G] NM_001013356,NM_001005245 OR8U8,OR5M11 EXON Silent,Missense_T38I exm909846 11 56310730 [A/C] NM_001013356,NM_001005245 OR8U8,OR5M11 EXON Silent,Missense_S2A exm909848 11 56344260 [A/G] NM_001013356,NM_001004741 OR8U8,OR5M10 EXON Silent,Missense_I313T exm909850 11 56344267 [A/G] NM_001013356,NM_001004741 OR8U8,OR5M10 EXON Silent,Missense_C311R exm909876 11 56344713 [A/T] NM_001013356,NM_001004741 OR8U8,OR5M10 EXON Silent,Missense_L162Q exm909877 11 56344751 [G/C] NM_001013356,NM_001004741 OR8U8,OR5M10 EXON Silent,Nonsense_Y149X exm909906 11 56345100 [T/G] NM_001013356,NM_001004741 OR8U8,OR5M10 EXON Silent,Missense_A33E exm909912 11 56345181 [T/C] NM_001013356,NM_001004741 OR8U8,OR5M10 EXON Silent,Missense_H6R exm909913 11 56380047 [T/C] NM_001013356,NM_001004740 OR8U8,OR5M1 EXON Silent,Missense_H311R exm909930 11 56380485 [T/C] NM_001013356,NM_001004740 OR8U8,OR5M1 EXON Silent,Missense_H165R exm909939 11 56380614 [T/C] NM_001013356,NM_001004740 OR8U8,OR5M1 EXON Silent,Missense_R122H exm909941 11 56380624 [A/C] NM_001013356,NM_001004740 OR8U8,OR5M1 EXON Silent,Missense_A119S exm2218818 11 56380689 [G/C] NM_001013356,NM_001004740 OR8U8,OR5M1 EXON Silent,Missense_C97S exm909961 11 56380920 [T/G] NM_001013356,NM_001004740 OR8U8,OR5M1 EXON Silent,Missense_D20A exm909962 11 56380929 [A/T] NM_001013356,NM_001004740 OR8U8,OR5M1 EXON Silent,Missense_L17Q exm909963 11 56380959 [A/G] NM_001013356,NM_001004740 OR8U8,OR5M1 EXON Silent,Missense_T7I exm909964 11 56380971 [A/G] NM_001013356,NM_001004740 OR8U8,OR5M1 EXON Silent,Missense_S3F exm909972 11 56409010 [T/A] NM_001013356,NM_001002925 OR8U8,OR5AP2 EXON Silent,Missense_D302E exm909980 11 56409209 [A/G] NM_001013356,NM_001002925 OR8U8,OR5AP2 EXON Silent,Missense_S236L exm909985 11 56409276 [T/G] NM_001013356,NM_001002925 OR8U8,OR5AP2 EXON Silent,Missense_I214L exm909986 11 56409306 [A/C] NM_001013356,NM_001002925 OR8U8,OR5AP2 EXON Silent,Missense_V204L exm909990 11 56409353 [A/G] NM_001013356,NM_001002925 OR8U8,OR5AP2 EXON Silent,Missense_P188L exm909999 11 56409533 [T/C] NM_001013356,NM_001002925 OR8U8,OR5AP2 EXON Silent,Missense_R128H exm910002 11 56409599 [T/C] NM_001013356,NM_001002925 OR8U8,OR5AP2 EXON Silent,Missense_Q106R exm910007 11 56409669 [T/C] NM_001013356,NM_001002925 OR8U8,OR5AP2 EXON Silent,Missense_V83I exm910021 11 56431216 [T/C] NM_001013356,NM_001004730 OR8U8,OR5AR1 EXON Silent,Nonsense_Q19X exm910030 11 56431387 [A/G] NM_001013356,NM_001004730 OR8U8,OR5AR1 EXON Silent,Missense_A76T exm910032 11 56431442 [T/G] NM_001013356,NM_001004730 OR8U8,OR5AR1 EXON Silent,Missense_F94C exm910039 11 56431525 [T/C] NM_001013356,NM_001004730 OR8U8,OR5AR1 EXON Silent,Missense_R122C exm1718808 11 56431591 [T/C] NM_001013356,NM_001004730 OR8U8,OR5AR1 EXON Silent,Missense_L144F exm910048 11 56431667 [A/G] NM_001013356,NM_001004730 OR8U8,OR5AR1 EXON Silent,Missense_C169Y exm910050 11 56431691 [A/T] NM_001013356,NM_001004730 OR8U8,OR5AR1 EXON Silent,Missense_F177Y exm2218819 11 56431736 [A/C] NM_001013356,NM_001004730 OR8U8,OR5AR1 EXON Silent,Missense_T192N exm910055 11 56431834 [A/G] NM_001013356,NM_001004730 OR8U8,OR5AR1 EXON Silent,Missense_I225V exm910056 11 56431847 [A/G] NM_001013356,NM_001004730 OR8U8,OR5AR1 EXON Silent,Missense_R229H exm910063 11 56432038 [T/C] NM_001013356,NM_001004730 OR8U8,OR5AR1 EXON Silent,Missense_R293W exm-rs1397048 11 56466099 [T/C] NM_001013356 OR8U8 Silent exm910077 11 56467897 [A/G] NM_001013356,NM_001005213,NM_001013358 OR8U8,OR9G1,OR9G9 EXON Silent,Missense_I12V,Missense_I12V exm910078 11 56467898 [T/C] NM_001013356,NM_001005213,NM_001013358 OR8U8,OR9G1,OR9G9 EXON Silent,Missense_I12T,Missense_I12T exm910080 11 56467937 [T/G] NM_001013356,NM_001005213,NM_001013358 OR8U8,OR9G1,OR9G9 EXON Silent,Missense_G25V,Missense_G25V exm910081 11 56467945 [T/G] NM_001013356,NM_001005213,NM_001013358 OR8U8,OR9G1,OR9G9 EXON Silent,Missense_V28L,Missense_V28L exm910089 11 56468020 [T/C] NM_001013356,NM_001005213,NM_001013358 OR8U8,OR9G1,OR9G9 EXON Silent,Missense_C53R,Missense_C53R exm910113 11 56468258 [T/C] NM_001013356,NM_001005213,NM_001013358 OR8U8,OR9G1,OR9G9 EXON Silent,Missense_A132V,Missense_A132V exm910131 11 56468431 [A/G] NM_001013356,NM_001005213,NM_001013358 OR8U8,OR9G1,OR9G9 EXON Silent,Missense_E190K,Missense_E190K exm910132 11 56468440 [T/G] NM_001013356,NM_001005213,NM_001013358 OR8U8,OR9G1,OR9G9 EXON Silent,Missense_G193C,Missense_G193C exm910139 11 56468492 [T/C] NM_001013356,NM_001005213,NM_001013358 OR8U8,OR9G1,OR9G9 EXON Silent,Missense_A210V,Missense_A210V exm910141 11 56468497 [T/C] NM_001013356,NM_001005213,NM_001013358 OR8U8,OR9G1,OR9G9 EXON Silent,Missense_L212F,Missense_L212F exm910144 11 56468521 [A/G] NM_001013356,NM_001005213,NM_001013358 OR8U8,OR9G1,OR9G9 EXON Silent,Missense_I220V,Missense_I220V exm910145 11 56468528 [T/C] NM_001013356,NM_001005213,NM_001013358 OR8U8,OR9G1,OR9G9 EXON Silent,Missense_T222I,Missense_T222I exm910158 11 56468681 [T/C] NM_001013356,NM_001005213,NM_001013358 OR8U8,OR9G1,OR9G9 EXON Silent,Missense_V273A,Missense_V273A exm2250002 11 56468694 [T/C] NM_001013356,NM_001005213,NM_001013358 OR8U8,OR9G1,OR9G9 EXON Silent,Synonymous_Y277Y,Synonymous_Y277Y exm910162 11 56468704 [T/C] NM_001013356,NM_001005213,NM_001013358 OR8U8,OR9G1,OR9G9 EXON Silent,Missense_F281L,Missense_F281L exm910164 11 56468720 [T/C] NM_001013356,NM_001005213,NM_001013358 OR8U8,OR9G1,OR9G9 EXON Silent,Missense_L286P,Missense_L286P exm910171 11 56508525 [A/G] NM_001013356 OR8U8 EXON Missense_I291V exm910172 11 56508541 [T/C] NM_001013356 OR8U8 EXON Missense_T296M exm910175 11 56510405 [T/C] NM_001005284 OR9G4 EXON Missense_V295M exm910185 11 56510587 [A/G] NM_001005284 OR9G4 EXON Missense_V234A exm910187 11 56510623 [A/G] NM_001005284 OR9G4 EXON Missense_V222A exm910188 11 56510633 [T/C] NM_001005284 OR9G4 EXON Missense_G219S exm910191 11 56510672 [T/C] NM_001005284 OR9G4 EXON Missense_N206D exm910198 11 56510750 [A/G] NM_001005284 OR9G4 EXON Missense_R180C exm910199 11 56510762 [T/C] NM_001005284 OR9G4 EXON Missense_A176T exm910210 11 56510863 [T/C] NM_001005284 OR9G4 EXON Missense_C142Y exm910216 11 56510947 [A/G] NM_001005284 OR9G4 EXON Missense_A114V exm910222 11 56511025 [T/C] NM_001005284 OR9G4 EXON Missense_Y88C exm910224 11 56511055 [A/G] NM_001005284 OR9G4 EXON Missense_I78T exm910226 11 56511066 [T/C] NM_001005284 OR9G4 EXON Missense_M74I exm910229 11 56511104 [T/C] NM_001005284 OR9G4 EXON Missense_I62V exm910232 11 56511160 [A/G] NM_001005284 OR9G4 EXON Missense_F43S exm2271505 11 56670810 [T/C] exm910243 11 56756398 [T/G] NM_001005323 OR5AK2 EXON Nonsense_G4X exm910244 11 56756399 [T/G] NM_001005323 OR5AK2 EXON Missense_G4V exm910248 11 56756465 [T/C] NM_001005323 OR5AK2 EXON Missense_I26T exm910257 11 56756664 [A/G] NM_001005323 OR5AK2 EXON Missense_M92I exm910260 11 56756695 [A/G] NM_001005323 OR5AK2 EXON Missense_V103I exm910268 11 56756867 [C/G] NM_001005323 OR5AK2 EXON Missense_T160R exm910269 11 56756876 [A/C] NM_001005323 OR5AK2 EXON Missense_T163K exm910274 11 56756915 [A/G] NM_001005323 OR5AK2 EXON Missense_H176R exm910283 11 56757028 [A/G] NM_001005323 OR5AK2 EXON Missense_V214I exm910289 11 56757173 [T/C] NM_001005323 OR5AK2 EXON Missense_S262F exm910303 11 56949573 [T/C] NM_001005210 LRRC55 EXON Missense_A69V exm910310 11 56949660 [A/G] NM_001005210 LRRC55 EXON Missense_R98Q exm910312 11 56949681 [A/C] NM_001005210 LRRC55 EXON Missense_D105A exm910313 11 56949691 [A/G] NM_001005210 LRRC55 EXON Missense_M108I exm910329 11 56950146 [A/G] NM_001005210 LRRC55 EXON Missense_R260H exm2273480 11 56954985 [A/G] NM_001005210 LRRC55 EXON Silent exm910355 11 57003481 [A/C] NM_005161,NR_027991 APLNR,APLNR EXON Missense_G333V,Silent exm910359 11 57003581 [T/C] NM_005161,NR_027991 APLNR,APLNR EXON Missense_V300I,Silent exm910368 11 57003749 [A/G] NM_005161,NR_027991 APLNR,APLNR EXON Missense_R244C,Silent exm2274482 11 57003772 [A/C] NM_005161,NR_027991 APLNR,APLNR EXON Missense_R236L,Silent exm910398 11 57004316 [A/G] NM_005161,NR_027991 APLNR,APLNR EXON Missense_R55W,Silent exm910399 11 57004322 [T/C] NM_005161,NR_027991 APLNR,APLNR EXON Missense_V53M,Silent exm910419 11 57068494 [A/G] NM_033396 TNKS1BP1 EXON Missense_R1665C exm910421 11 57068505 [T/C] NM_033396 TNKS1BP1 EXON Missense_R1661H exm910425 11 57069375 [A/G] NM_033396 TNKS1BP1 EXON Missense_V1626A exm910431 11 57069568 [T/C] NM_033396 TNKS1BP1 EXON Missense_H1605R exm910433 11 57069592 [A/G] NM_033396 TNKS1BP1 EXON Missense_S1597L exm910438 11 57069692 [T/C] NM_033396 TNKS1BP1 EXON Missense_E1564K exm910445 11 57070055 [T/C] NM_033396 TNKS1BP1 EXON Missense_V1521M exm910447 11 57070069 [T/C] NM_033396 TNKS1BP1 EXON Missense_S1516N exm910458 11 57070265 [T/C] NM_033396 TNKS1BP1 EXON Missense_G1451S exm910459 11 57070280 [A/G] NM_033396 TNKS1BP1 EXON Missense_R1446C exm910461 11 57075873 [G/C] NM_033396 TNKS1BP1 EXON Missense_A1438P exm910465 11 57075909 [A/G] NM_033396 TNKS1BP1 EXON Missense_P1426S exm910473 11 57076055 [A/C] NM_033396 TNKS1BP1 EXON Missense_G1377V exm910475 11 57076091 [T/C] NM_033396 TNKS1BP1 EXON Missense_H1365R exm1719739 11 57076187 [A/C] NM_033396 TNKS1BP1 EXON Missense_G1333V exm910495 11 57076464 [T/C] NM_033396 TNKS1BP1 EXON Missense_V1241I exm910500 11 57076524 [T/C] NM_033396 TNKS1BP1 EXON Missense_G1221R exm910505 11 57076616 [T/C] NM_033396 TNKS1BP1 EXON Missense_G1190E exm910515 11 57076808 [T/A] NM_033396 TNKS1BP1 EXON Missense_I1126N exm910516 11 57076820 [T/G] NM_033396 TNKS1BP1 EXON Missense_Y1122S exm910524 11 57077033 [T/C] NM_033396 TNKS1BP1 EXON Missense_S1051N exm910530 11 57077109 [A/C] NM_033396 TNKS1BP1 EXON Missense_G1026C exm910535 11 57077132 [T/C] NM_033396 TNKS1BP1 EXON Missense_R1018Q exm1719754 11 57077444 [T/C] NM_033396 TNKS1BP1 EXON Missense_H914R exm910560 11 57077616 [T/A] NM_033396 TNKS1BP1 EXON Missense_S857C exm910561 11 57077642 [T/C] NM_033396 TNKS1BP1 EXON Missense_K848R exm910573 11 57077855 [T/G] NM_033396 TNKS1BP1 EXON Missense_K777T exm910576 11 57077981 [A/G] NM_033396 TNKS1BP1 EXON Missense_T735I exm910580 11 57080021 [T/C] NM_033396 TNKS1BP1 EXON Missense_S714N exm910588 11 57080142 [T/C] NM_033396 TNKS1BP1 EXON Missense_E674K exm910590 11 57080172 [T/C] NM_033396 TNKS1BP1 EXON Missense_E664K exm910595 11 57080274 [T/G] NM_033396 TNKS1BP1 EXON Missense_P630T exm910599 11 57080352 [A/G] NM_033396 TNKS1BP1 EXON Missense_P604S exm910600 11 57080394 [A/C] NM_033396 TNKS1BP1 EXON Missense_Y590D exm910608 11 57080613 [T/C] NM_033396 TNKS1BP1 EXON Missense_V517I exm910620 11 57080697 [T/C] NM_033396 TNKS1BP1 EXON Missense_V489M exm910625 11 57080771 [A/G] NM_033396 TNKS1BP1 EXON Missense_F464S exm910634 11 57080853 [T/C] NM_033396 TNKS1BP1 EXON Missense_S437G exm910635 11 57080882 [T/C] NM_033396 TNKS1BP1 EXON Missense_R427Q exm2250013 11 57080917 [A/G] NM_033396 TNKS1BP1 EXON Synonymous_D415D exm910655 11 57081146 [C/G] NM_033396 TNKS1BP1 EXON Missense_P339R exm910656 11 57081165 [T/C] NM_033396 TNKS1BP1 EXON Missense_A333T exm910671 11 57087583 [T/C] NM_033396 TNKS1BP1 EXON Missense_R233Q exm910672 11 57087584 [A/G] NM_033396 TNKS1BP1 EXON Missense_R233W exm1719783 11 57087694 [T/C] NM_033396 TNKS1BP1 EXON Missense_R196Q exm910677 11 57087739 [T/C] NM_033396 TNKS1BP1 EXON Missense_R181H exm910681 11 57087812 [T/C] NM_033396 TNKS1BP1 EXON Missense_A157T exm910683 11 57087817 [T/C] NM_033396 TNKS1BP1 EXON Missense_R155H exm910689 11 57087995 [A/G] NM_033396 TNKS1BP1 EXON Missense_P96S exm910723 11 57095218 [T/C] NM_003146 SSRP1 EXON Missense_I584V exm910725 11 57095334 [T/C] NM_003146 SSRP1 EXON Missense_N545S exm910734 11 57097766 [A/G] NM_003146 SSRP1 EXON Synonymous_T478T exm910748 11 57099878 [A/G] NM_003146 SSRP1 EXON Missense_S284L exm910757 11 57100266 [T/C] NM_003146 SSRP1 EXON Missense_I201V exm2250015 11 57100475 [A/G] NM_003146 SSRP1 EXON Synonymous_F165F exm910765 11 57100591 [A/G] NM_003146 SSRP1 EXON Missense_P127S exm910779 11 57102097 [T/C] NM_003146 SSRP1 EXON Missense_R27H exm2218834 11 57103350 [A/G] NM_003146 SSRP1 EXON Silent exm910792 11 57114074 [T/C] NM_002559 P2RX3 EXON Missense_S59L exm910795 11 57114109 [A/G] NM_002559 P2RX3 EXON Missense_A71T exm910803 11 57114905 [A/G] NM_002559 P2RX3 EXON Missense_R115H exm1719847 11 57115664 [A/G] NM_002559 P2RX3 EXON Missense_V138M exm910807 11 57115686 [A/G] NM_002559 P2RX3 EXON Missense_R145Q exm2250016 11 57137371 [A/G] NM_002559 P2RX3 EXON Synonymous_T365T exm910836 11 57137424 [T/C] NM_002559 P2RX3 EXON Missense_A383V exm910839 11 57137445 [T/C] NM_002559 P2RX3 EXON Missense_S390L exm910841 11 57137450 [A/G] NM_002559 P2RX3 EXON Missense_A392T exm910849 11 57144356 [T/G] NM_006093 PRG3 EXON Nonsense_C215X exm910850 11 57144367 [A/G] NM_006093 PRG3 EXON Nonsense_R212X exm910853 11 57145232 [T/A] NM_006093 PRG3 EXON Missense_N195K exm910860 11 57145296 [T/C] NM_006093 PRG3 EXON Missense_R174Q exm910861 11 57145297 [A/G] NM_006093 PRG3 EXON Missense_R174W exm910868 11 57146225 [A/G] NM_006093 PRG3 EXON Missense_Y146H exm910875 11 57147016 [A/G] NM_006093 PRG3 EXON Missense_I109T exm910876 11 57147017 [T/G] NM_006093 PRG3 EXON Missense_I109L exm910881 11 57147155 [T/C] NM_006093 PRG3 EXON Missense_E63K exm910886 11 57147184 [T/G] NM_006093 PRG3 EXON Missense_T53K exm910887 11 57147191 [A/C] NM_006093 PRG3 EXON Missense_A51S exm910893 11 57148175 [A/G] NM_006093 PRG3 EXON Missense_C3R exm2271611 11 57148548 [T/C] NM_006093 PRG3 Silent exm910902 11 57155001 [A/G] NM_002728,NM_001243245 PRG2,PRG2 EXON Missense_H206Y,Missense_H195Y exm910905 11 57155253 [A/C] NM_002728,NM_001243245 PRG2,PRG2 EXON Missense_G195V,Missense_G184V exm910907 11 57155278 [A/C] NM_002728,NM_001243245 PRG2,PRG2 EXON Missense_A187S,Missense_A176S exm910914 11 57155326 [A/G] NM_002728,NM_001243245 PRG2,PRG2 EXON Missense_R171C,Missense_R160C exm910917 11 57156061 [A/T] NM_002728,NM_001243245 PRG2,PRG2 EXON Missense_I163F,Missense_I152F exm910919 11 57156096 [A/G] NM_002728,NM_001243245 PRG2,PRG2 EXON Missense_A151V,Missense_A140V exm910920 11 57156106 [A/G] NM_002728,NM_001243245 PRG2,PRG2 EXON Missense_S148P,Missense_S137P exm910922 11 57156142 [T/C] NM_002728,NM_001243245 PRG2,PRG2 EXON Missense_I136V,Missense_I125V exm910931 11 57156506 [C/G] NM_002728,NM_001243245 PRG2,PRG2 EXON Missense_L115V,Silent exm910937 11 57156586 [A/G] NM_002728,NM_001243245 PRG2,PRG2 EXON Missense_T88M,Missense_T88M exm910938 11 57156590 [C/G] NM_002728,NM_001243245 PRG2,PRG2 EXON Missense_L87V,Missense_L87V exm910946 11 57156701 [T/G] NM_002728,NM_001243245 PRG2,PRG2 EXON Missense_P50T,Missense_P50T exm910949 11 57156745 [T/A] NM_002728,NM_001243245 PRG2,PRG2 EXON Missense_L35Q,Missense_L35Q exm910951 11 57156791 [T/C] NM_002728,NM_001243245 PRG2,PRG2 Silent,Silent exm910962 11 57175272 [A/G] NM_014096,NM_199329,NM_017611 SLC43A3,SLC43A3,SLC43A3 EXON Missense_I490T,Missense_I490T,Missense_I490T exm910964 11 57175299 [T/C] NM_014096,NM_199329,NM_017611 SLC43A3,SLC43A3,SLC43A3 EXON Missense_R481H,Missense_R481H,Missense_R481H exm910980 11 57177579 [A/G] NM_014096,NM_199329,NM_017611 SLC43A3,SLC43A3,SLC43A3 EXON Missense_A359V,Missense_A359V,Missense_A359V exm910982 11 57177593 [A/G] NM_014096,NM_199329,NM_017611 SLC43A3,SLC43A3,SLC43A3 EXON Synonymous_G354G,Synonymous_G354G,Synonymous_G354G exm910997 11 57182533 [T/G] NM_014096,NM_199329,NM_017611 SLC43A3,SLC43A3,SLC43A3 EXON Missense_S272R,Missense_S272R,Missense_S272R exm910998 11 57182534 [A/C] NM_014096,NM_199329,NM_017611 SLC43A3,SLC43A3,SLC43A3 EXON Missense_S272I,Missense_S272I,Missense_S272I exm911010 11 57185284 [T/C] NM_014096,NM_199329,NM_017611 SLC43A3,SLC43A3,SLC43A3 EXON Missense_R203H,Missense_R203H,Missense_R203H exm911032 11 57188846 [C/G] NM_014096,NM_199329,NM_017611 SLC43A3,SLC43A3,SLC43A3 EXON Missense_G121A,Missense_G121A,Missense_G121A exm911047 11 57193488 [A/G] NM_014096,NM_199329,NM_017611 SLC43A3,SLC43A3,SLC43A3 EXON Missense_P53L,Missense_P53L,Missense_P53L exm911070 11 57235409 [T/G] NM_178570 RTN4RL2 EXON Missense_R120L exm911075 11 57235505 [A/G] NM_178570 RTN4RL2 EXON Missense_R152Q exm911106 11 57254616 [A/C] NM_003627,NM_001198810 SLC43A1,SLC43A1 EXON Missense_Q495H,Missense_Q495H exm911115 11 57256732 [A/G] NM_003627,NM_001198810 SLC43A1,SLC43A1 EXON Missense_H443Y,Missense_H443Y exm911117 11 57256833 [T/C] NM_003627,NM_001198810 SLC43A1,SLC43A1 EXON Missense_R409H,Missense_R409H exm911121 11 57258731 [T/C] NM_003627,NM_001198810 SLC43A1,SLC43A1 EXON Missense_A387T,Missense_A387T exm911134 11 57259193 [G/C] NM_003627,NM_001198810 SLC43A1,SLC43A1 EXON Missense_E338D,Missense_E338D exm911145 11 57261522 [A/G] NM_003627,NM_001198810 SLC43A1,SLC43A1 EXON Missense_S272L,Missense_S272L exm911152 11 57263510 [T/C] NM_003627,NM_001198810 SLC43A1,SLC43A1 EXON Missense_N229S,Missense_N229S exm911154 11 57263541 [T/C] NM_003627,NM_001198810 SLC43A1,SLC43A1 EXON Missense_I219V,Missense_I219V exm911166 11 57265273 [T/C] NM_003627,NM_001198810 SLC43A1,SLC43A1 EXON Missense_M171V,Missense_M171V exm911170 11 57268252 [T/C] NM_003627,NM_001198810 SLC43A1,SLC43A1 EXON Synonymous_T155T,Synonymous_T155T exm911178 11 57268493 [A/G] NM_003627,NM_001198810 SLC43A1,SLC43A1 EXON Missense_T119I,Missense_T119I exm911192 11 57268763 [T/C] NM_003627,NM_001198810 SLC43A1,SLC43A1 EXON Missense_R65K,Missense_R65K exm911196 11 57281467 [T/G] NM_003627,NM_001198810 SLC43A1,SLC43A1 EXON Missense_L40M,Missense_L40M exm911198 11 57281546 [C/G] NM_003627,NM_001198810 SLC43A1,SLC43A1 EXON Missense_W13C,Missense_W13C exm911203 11 57296313 [T/G] NM_012456 TIMM10 EXON Nonsense_C50X exm911210 11 57297647 [A/C] NM_012456 TIMM10 EXON Missense_A6S exm911225 11 57310327 [A/T] NM_001105565 SMTNL1 EXON Missense_N71I exm911236 11 57310678 [A/G] NM_001105565 SMTNL1 EXON Missense_E188G exm911251 11 57311214 [T/C] NM_001105565 SMTNL1 EXON Missense_H284Y exm911262 11 57313460 [T/C] NM_001105565 SMTNL1 EXON Missense_R342W exm911265 11 57313469 [G/C] NM_001105565 SMTNL1 EXON Missense_R345G exm911267 11 57313706 [T/G] NM_001105565 SMTNL1 EXON Synonymous_G358G exm911271 11 57313805 [A/G] NM_001105565 SMTNL1 EXON Missense_M391I exm911297 11 57319857 [A/G] NM_004223,NM_198183 UBE2L6,UBE2L6 EXON Nonsense_R146X,Nonsense_R80X exm911300 11 57319929 [A/G] NM_004223,NM_198183 UBE2L6,UBE2L6 EXON Missense_R122W,Missense_R56W exm911301 11 57319967 [T/C] NM_004223,NM_198183 UBE2L6,UBE2L6 EXON Missense_N109S,Missense_N43S exm2271506 11 57321811 [T/G] NM_004223,NM_198183 UBE2L6,UBE2L6 Silent,Silent exm911309 11 57327824 [T/C] NM_004223,NM_198183 UBE2L6,UBE2L6 EXON Missense_A37T,Silent exm911326 11 57365768 [A/C] NM_000062,NM_001032295 SERPING1,SERPING1 EXON Missense_T9P,Missense_T9P exm911332 11 57367442 [A/G] NM_000062,NM_001032295 SERPING1,SERPING1 EXON Missense_T48A,Missense_T48A exm911333 11 57367467 [T/C] NM_000062,NM_001032295 SERPING1,SERPING1 EXON Missense_V56A,Missense_V56A exm911343 11 57367584 [T/C] NM_000062,NM_001032295 SERPING1,SERPING1 EXON Missense_T95I,Missense_T95I exm911356 11 57369598 [T/C] NM_000062,NM_001032295 SERPING1,SERPING1 EXON Missense_T214M,Missense_T214M exm911357 11 57369627 [A/G] NM_000062,NM_001032295 SERPING1,SERPING1 EXON Missense_I224V,Missense_I224V exm911373 11 57373959 [T/C] NM_000062,NM_001032295 SERPING1,SERPING1 EXON Missense_P323L,Missense_P323L exm911387 11 57381989 [A/G] NM_000062,NM_001032295 SERPING1,SERPING1 EXON Missense_V480M,Missense_V480M exm911412 11 57426996 [A/C] NM_001142597,NM_006831 CLP1,CLP1 EXON Missense_E16D,Missense_E16D exm2250022 11 57427125 [T/C] NM_001142597,NM_006831 CLP1,CLP1 EXON Synonymous_A59A,Synonymous_A59A exm911415 11 57427125 [T/C] NM_001142597,NM_006831 CLP1,CLP1 EXON Synonymous_A59A,Synonymous_A59A exm911416 11 57427126 [T/G] NM_001142597,NM_006831 CLP1,CLP1 EXON Missense_G60C,Missense_G60C exm911431 11 57428280 [T/C] NM_001142597,NM_006831 CLP1,CLP1 EXON Missense_V153A,Missense_V217A exm911441 11 57428528 [T/C] NM_001142597,NM_006831 CLP1,CLP1 EXON Missense_R236C,Missense_R300C exm911450 11 57428771 [A/G] NM_001142597,NM_006831 CLP1,CLP1 EXON Missense_T317A,Missense_T381A exm911467 11 57456075 [A/C] NM_015457 ZDHHC5 EXON Missense_T108P exm911482 11 57461323 [T/C] NM_015457 ZDHHC5 EXON Missense_S274L exm911493 11 57464253 [A/G] NM_015457 ZDHHC5 EXON Missense_D344N exm911495 11 57464259 [T/C] NM_015457 ZDHHC5 EXON Missense_P346S exm911505 11 57466062 [A/C] NM_015457 ZDHHC5 EXON Missense_T385N exm911506 11 57466083 [A/G] NM_015457 ZDHHC5 EXON Missense_R392H exm911510 11 57466149 [A/G] NM_015457 ZDHHC5 EXON Missense_K414R exm911516 11 57466283 [G/C] NM_015457 ZDHHC5 EXON Missense_L459V exm911519 11 57466436 [T/C] NM_015457 ZDHHC5 EXON Missense_R510W exm911524 11 57466491 [T/C] NM_015457 ZDHHC5 EXON Missense_P528L exm911527 11 57466509 [A/G] NM_015457 ZDHHC5 EXON Missense_D534G exm911530 11 57466581 [T/C] NM_015457 ZDHHC5 EXON Missense_P558L exm1720099 11 57466809 [T/C] NM_015457 ZDHHC5 EXON Missense_S634L exm911542 11 57467411 [A/G] NM_015457 ZDHHC5 EXON Missense_G686S exm911554 11 57472214 [T/C] NM_153450 MED19 EXON Missense_R183H exm911556 11 57472447 [A/G] NM_153450 MED19 EXON Missense_P158S exm911558 11 57472534 [A/C] NM_153450 MED19 EXON Missense_S129A exm911560 11 57472551 [T/C] NM_153450 MED19 EXON Missense_D123G exm911569 11 57479507 [A/C] NM_153450 MED19 EXON Missense_A49S exm2218846 11 57479579 [A/G] NM_153450 MED19 EXON Missense_P25S exm911579 11 57480167 [A/G] NR_037646,NM_015959,NR_037645,NM_001144012,NR_026593 TMX2-CTNND1,TMX2,TMX2,TMX2,TMX2 EXON Silent,Missense_Y26C,Silent,Missense_Y26C,Silent exm911586 11 57480232 [G/C] NR_037646,NM_015959,NR_037645,NM_001144012,NR_026593 TMX2-CTNND1,TMX2,TMX2,TMX2,TMX2 EXON Silent,Missense_G48R,Silent,Missense_G48R,Silent exm911594 11 57505086 [C/G] NR_037646,NM_015959,NR_037645,NM_001144012,NR_026593 TMX2-CTNND1,TMX2,TMX2,TMX2,TMX2 EXON Silent,Missense_V66L,Silent,Missense_V66L,Silent exm911596 11 57505139 [G/C] NR_037646,NM_015959,NR_037645,NM_001144012,NR_026593 TMX2-CTNND1,TMX2,TMX2,TMX2,TMX2 EXON Silent,Synonymous_S83S,Silent,Synonymous_S83S,Silent exm911602 11 57505827 [A/G] NR_037646,NM_015959,NR_037645,NM_001144012,NR_026593 TMX2-CTNND1,TMX2,TMX2,TMX2,TMX2 EXON Silent,Synonymous_V122V,Silent,Missense_M84I,Silent exm911604 11 57505858 [A/G] NR_037646,NM_015959,NR_037645,NM_001144012,NR_026593 TMX2-CTNND1,TMX2,TMX2,TMX2,TMX2 EXON Silent,Missense_M133V,Silent,Missense_M95V,Silent exm911633 11 57509090 [A/G] NR_037646,NM_170746 TMX2-CTNND1,C11orf31 EXON Silent,Missense_R8H exm911635 11 57509113 [A/G] NR_037646,NM_170746 TMX2-CTNND1,C11orf31 EXON Silent,Missense_A16T exm911677 11 57512690 [T/C] NR_037646,NM_001145101 TMX2-CTNND1,BTBD18 EXON Silent,Missense_E352G exm2218848 11 57512833 [A/C] NR_037646,NM_001145101 TMX2-CTNND1,BTBD18 EXON Silent,Missense_N304K exm911686 11 57513141 [A/G] NR_037646,NM_001145101 TMX2-CTNND1,BTBD18 EXON Silent,Missense_S202P exm911703 11 57559105 [A/G] NR_037646,NM_001085466,NM_001206890,NM_001085464,NM_001206884,NM_001085463,NM_001085461,NM_001085460,NM_001085468,NM_001206887,NM_001206888,NM_001085462,NM_001206889,NM_001206883,NM_001331,NM_001085465,NM_001206885,NM_001085459,NM_001206886,NM_001085458,NM_001085469,NM_001206891,NM_001085467 TMX2-CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_N52S,Missense_N52S,Silent,Silent,Silent,Missense_N52S,Silent,Silent,Missense_N52S,Silent,Missense_N52S,Missense_N52S,Silent,Missense_N52S,Silent,Silent,Silent exm911706 11 57561488 [T/C] NR_037646,NM_001085466,NM_001206890,NM_001085464,NM_001206884,NM_001085463,NM_001085461,NM_001085460,NM_001085468,NM_001206887,NM_001206888,NM_001085462,NM_001206889,NM_001206883,NM_001331,NM_001085465,NM_001206885,NM_001085459,NM_001206886,NM_001085458,NM_001085469,NM_001206891,NM_001085467 TMX2-CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1 EXON Silent,Silent,Silent,Silent,Missense_R14W,Silent,Missense_R68W,Missense_R68W,Silent,Missense_R14W,Missense_R14W,Missense_R68W,Missense_R14W,Missense_R14W,Missense_R68W,Silent,Missense_R68W,Missense_R68W,Missense_R14W,Missense_R68W,Silent,Missense_R14W,Silent exm911710 11 57561543 [A/G] NR_037646,NM_001085466,NM_001206890,NM_001085464,NM_001206884,NM_001085463,NM_001085461,NM_001085460,NM_001085468,NM_001206887,NM_001206888,NM_001085462,NM_001206889,NM_001206883,NM_001331,NM_001085465,NM_001206885,NM_001085459,NM_001206886,NM_001085458,NM_001085469,NM_001206891,NM_001085467 TMX2-CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1 EXON Silent,Silent,Silent,Silent,Missense_N32S,Silent,Missense_N86S,Missense_N86S,Silent,Missense_N32S,Missense_N32S,Missense_N86S,Missense_N32S,Missense_N32S,Missense_N86S,Silent,Missense_N86S,Missense_N86S,Missense_N32S,Missense_N86S,Silent,Missense_N32S,Silent exm911715 11 57563103 [T/A] NR_037646,NM_001085466,NM_001206890,NM_001085464,NM_001206884,NM_001085463,NM_001085461,NM_001085460,NM_001085468,NM_001206887,NM_001206888,NM_001085462,NM_001206889,NM_001206883,NM_001331,NM_001085465,NM_001206885,NM_001085459,NM_001206886,NM_001085458,NM_001085469,NM_001206891,NM_001085467 TMX2-CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1 EXON Silent,Missense_I7F,Missense_I7F,Missense_I7F,Missense_I54F,Missense_I7F,Missense_I108F,Missense_I108F,Missense_I7F,Missense_I54F,Missense_I54F,Missense_I108F,Missense_I54F,Missense_I54F,Missense_I108F,Missense_I7F,Missense_I108F,Missense_I108F,Missense_I54F,Missense_I108F,Missense_I7F,Missense_I54F,Missense_I7F exm911718 11 57563118 [A/C] NR_037646,NM_001085466,NM_001206890,NM_001085464,NM_001206884,NM_001085463,NM_001085461,NM_001085460,NM_001085468,NM_001206887,NM_001206888,NM_001085462,NM_001206889,NM_001206883,NM_001331,NM_001085465,NM_001206885,NM_001085459,NM_001206886,NM_001085458,NM_001085469,NM_001206891,NM_001085467 TMX2-CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1 EXON Silent,Missense_T12P,Missense_T12P,Missense_T12P,Missense_T59P,Missense_T12P,Missense_T113P,Missense_T113P,Missense_T12P,Missense_T59P,Missense_T59P,Missense_T113P,Missense_T59P,Missense_T59P,Missense_T113P,Missense_T12P,Missense_T113P,Missense_T113P,Missense_T59P,Missense_T113P,Missense_T12P,Missense_T59P,Missense_T12P exm911721 11 57563200 [T/C] NR_037646,NM_001085466,NM_001206890,NM_001085464,NM_001206884,NM_001085463,NM_001085461,NM_001085460,NM_001085468,NM_001206887,NM_001206888,NM_001085462,NM_001206889,NM_001206883,NM_001331,NM_001085465,NM_001206885,NM_001085459,NM_001206886,NM_001085458,NM_001085469,NM_001206891,NM_001085467 TMX2-CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1 EXON Silent,Missense_T39M,Missense_T39M,Missense_T39M,Missense_T86M,Missense_T39M,Missense_T140M,Missense_T140M,Missense_T39M,Missense_T86M,Missense_T86M,Missense_T140M,Missense_T86M,Missense_T86M,Missense_T140M,Missense_T39M,Missense_T140M,Missense_T140M,Missense_T86M,Missense_T140M,Missense_T39M,Missense_T86M,Missense_T39M exm911733 11 57564214 [T/C] NR_037646,NM_001085466,NM_001206890,NM_001085464,NM_001206884,NM_001085463,NM_001085461,NM_001085460,NM_001085468,NM_001206887,NM_001206888,NM_001085462,NM_001206889,NM_001206883,NM_001331,NM_001085465,NM_001206885,NM_001085459,NM_001206886,NM_001085458,NM_001085469,NM_001206891,NM_001085467 TMX2-CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1 EXON Silent,Missense_R135C,Missense_R135C,Missense_R135C,Missense_R182C,Missense_R135C,Missense_R236C,Missense_R236C,Missense_R135C,Missense_R182C,Missense_R182C,Missense_R236C,Missense_R182C,Missense_R182C,Missense_R236C,Missense_R135C,Missense_R236C,Missense_R236C,Missense_R182C,Missense_R236C,Missense_R135C,Missense_R182C,Missense_R135C exm911745 11 57564350 [T/G] NR_037646,NM_001085466,NM_001206890,NM_001085464,NM_001206884,NM_001085463,NM_001085461,NM_001085460,NM_001085468,NM_001206887,NM_001206888,NM_001085462,NM_001206889,NM_001206883,NM_001331,NM_001085465,NM_001206885,NM_001085459,NM_001206886,NM_001085458,NM_001085469,NM_001206891,NM_001085467 TMX2-CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1 EXON Silent,Missense_G180V,Missense_G180V,Missense_G180V,Missense_G227V,Missense_G180V,Missense_G281V,Missense_G281V,Missense_G180V,Missense_G227V,Missense_G227V,Missense_G281V,Missense_G227V,Missense_G227V,Missense_G281V,Missense_G180V,Missense_G281V,Missense_G281V,Missense_G227V,Missense_G281V,Missense_G180V,Missense_G227V,Missense_G180V exm1720236 11 57564368 [A/G] NR_037646,NM_001085466,NM_001206890,NM_001085464,NM_001206884,NM_001085463,NM_001085461,NM_001085460,NM_001085468,NM_001206887,NM_001206888,NM_001085462,NM_001206889,NM_001206883,NM_001331,NM_001085465,NM_001206885,NM_001085459,NM_001206886,NM_001085458,NM_001085469,NM_001206891,NM_001085467 TMX2-CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1 EXON Silent,Missense_R186H,Missense_R186H,Missense_R186H,Missense_R233H,Missense_R186H,Missense_R287H,Missense_R287H,Missense_R186H,Missense_R233H,Missense_R233H,Missense_R287H,Missense_R233H,Missense_R233H,Missense_R287H,Missense_R186H,Missense_R287H,Missense_R287H,Missense_R233H,Missense_R287H,Missense_R186H,Missense_R233H,Missense_R186H exm911747 11 57564425 [A/G] NR_037646,NM_001085466,NM_001206890,NM_001085464,NM_001206884,NM_001085463,NM_001085461,NM_001085460,NM_001085468,NM_001206887,NM_001206888,NM_001085462,NM_001206889,NM_001206883,NM_001331,NM_001085465,NM_001206885,NM_001085459,NM_001206886,NM_001085458,NM_001085469,NM_001206891,NM_001085467 TMX2-CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1 EXON Silent,Missense_R205H,Missense_R205H,Missense_R205H,Missense_R252H,Missense_R205H,Missense_R306H,Missense_R306H,Missense_R205H,Missense_R252H,Missense_R252H,Missense_R306H,Missense_R252H,Missense_R252H,Missense_R306H,Missense_R205H,Missense_R306H,Missense_R306H,Missense_R252H,Missense_R306H,Missense_R205H,Missense_R252H,Missense_R205H exm911750 11 57564451 [T/C] NR_037646,NM_001085466,NM_001206890,NM_001085464,NM_001206884,NM_001085463,NM_001085461,NM_001085460,NM_001085468,NM_001206887,NM_001206888,NM_001085462,NM_001206889,NM_001206883,NM_001331,NM_001085465,NM_001206885,NM_001085459,NM_001206886,NM_001085458,NM_001085469,NM_001206891,NM_001085467 TMX2-CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1 EXON Silent,Missense_R214C,Missense_R214C,Missense_R214C,Missense_R261C,Missense_R214C,Missense_R315C,Missense_R315C,Missense_R214C,Missense_R261C,Missense_R261C,Missense_R315C,Missense_R261C,Missense_R261C,Missense_R315C,Missense_R214C,Missense_R315C,Missense_R315C,Missense_R261C,Missense_R315C,Missense_R214C,Missense_R261C,Missense_R214C exm911763 11 57569638 [T/C] NR_037646,NM_001085466,NM_001206890,NM_001085464,NM_001206884,NM_001085463,NM_001085461,NM_001085460,NM_001085468,NM_001206887,NM_001206888,NM_001085462,NM_001206889,NM_001206883,NM_001331,NM_001085465,NM_001206885,NM_001085459,NM_001206886,NM_001085458,NM_001085469,NM_001206891,NM_001085467 TMX2-CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1 EXON Silent,Missense_R363C,Missense_R363C,Missense_R363C,Missense_R410C,Missense_R363C,Missense_R464C,Missense_R464C,Missense_R363C,Missense_R410C,Missense_R410C,Missense_R464C,Missense_R410C,Missense_R410C,Missense_R464C,Missense_R363C,Missense_R464C,Missense_R464C,Missense_R410C,Missense_R464C,Missense_R363C,Missense_R410C,Missense_R363C exm911766 11 57571209 [A/G] NR_037646,NM_001085466,NM_001206890,NM_001085464,NM_001206884,NM_001085463,NM_001085461,NM_001085460,NM_001085468,NM_001206887,NM_001206888,NM_001085462,NM_001206889,NM_001206883,NM_001331,NM_001085465,NM_001206885,NM_001085459,NM_001206886,NM_001085458,NM_001085469,NM_001206891,NM_001085467 TMX2-CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1 EXON Silent,Missense_N412D,Missense_N412D,Missense_N412D,Missense_N459D,Missense_N412D,Missense_N513D,Missense_N513D,Missense_N412D,Missense_N459D,Missense_N459D,Missense_N513D,Missense_N459D,Missense_N459D,Missense_N513D,Missense_N412D,Missense_N513D,Missense_N513D,Missense_N459D,Missense_N513D,Missense_N412D,Missense_N459D,Missense_N412D exm911782 11 57574441 [T/C] NR_037646,NM_001085466,NM_001206890,NM_001085464,NM_001206884,NM_001085463,NM_001085461,NM_001085460,NM_001085468,NM_001206887,NM_001206888,NM_001085462,NM_001206889,NM_001206883,NM_001331,NM_001085465,NM_001206885,NM_001085459,NM_001206886,NM_001085458,NM_001085469,NM_001206891,NM_001085467 TMX2-CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1 EXON Silent,Missense_T549M,Missense_T543M,Missense_T543M,Missense_T596M,Missense_T549M,Missense_T644M,Missense_T644M,Missense_T543M,Missense_T590M,Missense_T590M,Missense_T644M,Missense_T590M,Missense_T596M,Missense_T644M,Missense_T543M,Missense_T650M,Missense_T644M,Missense_T590M,Missense_T650M,Missense_T543M,Missense_T590M,Missense_T543M exm911801 11 57576902 [A/G] NR_037646,NM_001085466,NM_001206890,NM_001085464,NM_001206884,NM_001085463,NM_001085461,NM_001085460,NM_001085468,NM_001206887,NM_001206888,NM_001085462,NM_001206889,NM_001206883,NM_001331,NM_001085465,NM_001206885,NM_001085459,NM_001206886,NM_001085458,NM_001085469,NM_001206891,NM_001085467 TMX2-CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1 EXON Silent,Missense_Q699R,Missense_Q693R,Missense_Q693R,Missense_Q746R,Missense_Q699R,Missense_Q794R,Missense_Q794R,Missense_Q693R,Missense_Q740R,Missense_Q740R,Missense_Q794R,Missense_Q740R,Missense_Q746R,Missense_Q794R,Missense_Q693R,Missense_Q800R,Missense_Q794R,Missense_Q740R,Missense_Q800R,Missense_Q693R,Missense_Q740R,Missense_Q693R exm911809 11 57581786 [A/C] NR_037646,NM_001085466,NM_001206890,NM_001085464,NM_001206884,NM_001085463,NM_001085461,NM_001085460,NM_001085468,NM_001206887,NM_001206888,NM_001085462,NM_001206889,NM_001206883,NM_001331,NM_001085465,NM_001206885,NM_001085459,NM_001206886,NM_001085458,NM_001085469,NM_001206891,NM_001085467 TMX2-CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1 EXON Silent,Missense_K780T,Missense_K774T,Missense_K774T,Missense_K827T,Missense_K780T,Missense_K875T,Missense_K875T,Missense_K774T,Silent,Missense_K821T,Missense_K875T,Missense_K821T,Missense_K827T,Silent,Silent,Missense_K881T,Missense_K875T,Missense_K821T,Missense_K881T,Missense_K774T,Missense_K821T,Missense_K774T exm911811 11 57581818 [A/G] NR_037646,NM_001085466,NM_001206890,NM_001085464,NM_001206884,NM_001085463,NM_001085461,NM_001085460,NM_001085468,NM_001206887,NM_001206888,NM_001085462,NM_001206889,NM_001206883,NM_001331,NM_001085465,NM_001206885,NM_001085459,NM_001206886,NM_001085458,NM_001085469,NM_001206891,NM_001085467 TMX2-CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1 EXON Silent,Missense_N791D,Missense_N785D,Missense_N785D,Missense_N838D,Missense_N791D,Missense_N886D,Missense_N886D,Missense_N785D,Silent,Missense_N832D,Missense_N886D,Missense_N832D,Missense_N838D,Silent,Silent,Missense_N892D,Missense_N886D,Missense_N832D,Missense_N892D,Missense_N785D,Missense_N832D,Missense_N785D exm911813 11 57582878 [A/C] NR_037646,NM_001085466,NM_001206890,NM_001085464,NM_001206884,NM_001085463,NM_001085461,NM_001085460,NM_001085468,NM_001206887,NM_001206888,NM_001085462,NM_001206889,NM_001206883,NM_001331,NM_001085465,NM_001206885,NM_001085459,NM_001206886,NM_001085458,NM_001085469,NM_001206891,NM_001085467 TMX2-CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1 EXON Silent,Missense_S804Y,Missense_S798Y,Missense_S798Y,Missense_S851Y,Missense_S804Y,Missense_S899Y,Missense_S899Y,Missense_S798Y,Missense_S824Y,Missense_S845Y,Missense_S899Y,Missense_S845Y,Missense_S851Y,Missense_S878Y,Missense_S777Y,Missense_S905Y,Missense_S899Y,Missense_S845Y,Missense_S905Y,Missense_S798Y,Missense_S845Y,Missense_S798Y exm911815 11 57582908 [A/G] NR_037646,NM_001085466,NM_001206890,NM_001085464,NM_001206884,NM_001085463,NM_001085461,NM_001085460,NM_001085468,NM_001206887,NM_001206888,NM_001085462,NM_001206889,NM_001206883,NM_001331,NM_001085465,NM_001206885,NM_001085459,NM_001206886,NM_001085458,NM_001085469,NM_001206891,NM_001085467 TMX2-CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1 EXON Silent,Missense_R814K,Missense_R808K,Missense_R808K,Missense_R861K,Missense_R814K,Missense_R909K,Missense_R909K,Missense_R808K,Missense_R834K,Missense_R855K,Missense_R909K,Missense_R855K,Missense_R861K,Missense_R888K,Missense_R787K,Missense_R915K,Missense_R909K,Missense_R855K,Missense_R915K,Missense_R808K,Missense_R855K,Missense_R808K exm1720277 11 57582970 [A/C] NR_037646,NM_001085466,NM_001206890,NM_001085464,NM_001206884,NM_001085463,NM_001085461,NM_001085460,NM_001085468,NM_001206887,NM_001206888,NM_001085462,NM_001206889,NM_001206883,NM_001331,NM_001085465,NM_001206885,NM_001085459,NM_001206886,NM_001085458,NM_001085469,NM_001206891,NM_001085467 TMX2-CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1 EXON Silent,Missense_M835L,Missense_M829L,Missense_M829L,Missense_M882L,Missense_M835L,Missense_M930L,Missense_M930L,Missense_M829L,Missense_M855L,Missense_M876L,Missense_M930L,Missense_M876L,Missense_M882L,Missense_M909L,Missense_M808L,Missense_M936L,Missense_M930L,Missense_M876L,Missense_M936L,Missense_M829L,Missense_M876L,Missense_M829L exm2267178 11 57774847 [A/G] exm911825 11 57798473 [T/A] NM_001005212,NM_001005186 OR9Q1,OR6Q1 EXON Silent,Missense_M17L exm911826 11 57798503 [T/C] NM_001005212,NM_001005186 OR9Q1,OR6Q1 EXON Silent,Missense_L27F exm911836 11 57798670 [G/C] NM_001005212,NM_001005186 OR9Q1,OR6Q1 EXON Silent,Missense_K82N exm911837 11 57798686 [A/T] NM_001005212,NM_001005186 OR9Q1,OR6Q1 EXON Silent,Missense_I88F exm911838 11 57798687 [T/C] NM_001005212,NM_001005186 OR9Q1,OR6Q1 EXON Silent,Missense_I88T exm911839 11 57798723 [A/G] NM_001005212,NM_001005186 OR9Q1,OR6Q1 EXON Silent,Missense_D100G exm911845 11 57798798 [T/A] NM_001005212,NM_001005186 OR9Q1,OR6Q1 EXON Silent,Missense_D125V exm911846 11 57798801 [A/G] NM_001005212,NM_001005186 OR9Q1,OR6Q1 EXON Silent,Missense_R126H exm911849 11 57798863 [T/C] NM_001005212,NM_001005186 OR9Q1,OR6Q1 EXON Silent,Missense_R147C exm911851 11 57798942 [A/G] NM_001005212,NM_001005186 OR9Q1,OR6Q1 EXON Silent,Missense_Y173C exm911854 11 57798992 [A/G] NM_001005212,NM_001005186 OR9Q1,OR6Q1 EXON Silent,Missense_A190T exm911858 11 57799121 [T/C] NM_001005212,NM_001005186 OR9Q1,OR6Q1 EXON Silent,Missense_R233C exm911859 11 57799136 [T/C] NM_001005212,NM_001005186 OR9Q1,OR6Q1 EXON Silent,Missense_R238C exm911865 11 57799248 [A/G] NM_001005212,NM_001005186 OR9Q1,OR6Q1 EXON Silent,Missense_N275S exm911867 11 57799281 [T/C] NM_001005212,NM_001005186 OR9Q1,OR6Q1 EXON Silent,Missense_T286M exm911875 11 57885990 [G/C] NM_001005212,NM_001005211 OR9Q1,OR9I1 EXON Silent,Missense_Q309H exm911877 11 57886019 [T/C] NM_001005212,NM_001005211 OR9Q1,OR9I1 EXON Silent,Missense_A300T exm911880 11 57886136 [T/G] NM_001005212,NM_001005211 OR9Q1,OR9I1 EXON Silent,Missense_Q261K exm911881 11 57886145 [T/C] NM_001005212,NM_001005211 OR9Q1,OR9I1 EXON Silent,Missense_M258V exm911888 11 57886280 [T/C] NM_001005212,NM_001005211 OR9Q1,OR9I1 EXON Silent,Missense_V213I exm911892 11 57886319 [T/C] NM_001005212,NM_001005211 OR9Q1,OR9I1 EXON Silent,Missense_I200V exm1720463 11 57886435 [T/G] NM_001005212,NM_001005211 OR9Q1,OR9I1 EXON Silent,Missense_T161N exm911899 11 57886441 [T/C] NM_001005212,NM_001005211 OR9Q1,OR9I1 EXON Silent,Missense_R159H exm911900 11 57886442 [A/G] NM_001005212,NM_001005211 OR9Q1,OR9I1 EXON Silent,Missense_R159C exm1720464 11 57886450 [T/G] NM_001005212,NM_001005211 OR9Q1,OR9I1 EXON Silent,Missense_A156D exm2250029 11 57886749 [A/G] NM_001005212,NM_001005211 OR9Q1,OR9I1 EXON Silent,Synonymous_Y56Y exm911922 11 57886823 [T/G] NM_001005212,NM_001005211 OR9Q1,OR9I1 EXON Silent,Missense_L32M exm911929 11 57946921 [T/C] NM_001005212 OR9Q1 EXON Missense_A2V exm911930 11 57946999 [T/G] NM_001005212 OR9Q1 EXON Missense_F28C exm911936 11 57947084 [C/G] NM_001005212 OR9Q1 EXON Missense_H56Q exm911937 11 57947086 [T/C] NM_001005212 OR9Q1 EXON Missense_A57V exm911940 11 57947163 [A/G] NM_001005212 OR9Q1 EXON Missense_A83T exm911943 11 57947212 [A/C] NM_001005212 OR9Q1 EXON Missense_A99D exm911944 11 57947235 [T/G] NM_001005212 OR9Q1 EXON Missense_F107V exm911953 11 57947338 [A/G] NM_001005212 OR9Q1 EXON Missense_R141H exm911958 11 57947364 [A/G] NM_001005212 OR9Q1 EXON Missense_V150I exm1720500 11 57947410 [C/G] NM_001005212 OR9Q1 EXON Missense_T165S exm2218856 11 57947442 [T/G] NM_001005212 OR9Q1 EXON Missense_F176V exm911966 11 57947461 [T/C] NM_001005212 OR9Q1 EXON Missense_P182L exm911967 11 57947464 [T/C] NM_001005212 OR9Q1 EXON Missense_P183L exm911968 11 57947505 [C/G] NM_001005212 OR9Q1 EXON Missense_V197L exm911979 11 57947716 [T/C] NM_001005212 OR9Q1 EXON Missense_S267L exm911980 11 57947727 [T/C] NM_001005212 OR9Q1 EXON Missense_R271W exm911982 11 57947775 [A/C] NM_001005212 OR9Q1 EXON Missense_L287I exm911994 11 57958038 [T/C] NM_001005283 OR9Q2 EXON Missense_P26S exm912001 11 57958128 [T/C] NM_001005283 OR9Q2 EXON Missense_H56Y exm912002 11 57958135 [G/C] NM_001005283 OR9Q2 EXON Missense_P58R exm2250030 11 57958181 [T/C] NM_001005283 OR9Q2 EXON Synonymous_Y73Y exm1720513 11 57958455 [A/G] NM_001005283 OR9Q2 EXON Missense_T165A exm1720514 11 57958471 [A/G] NM_001005283 OR9Q2 EXON Missense_G170E exm912018 11 57958497 [T/C] NM_001005283 OR9Q2 EXON Missense_C179R exm912019 11 57958498 [A/G] NM_001005283 OR9Q2 EXON Missense_C179Y exm912023 11 57958578 [A/G] NM_001005283 OR9Q2 EXON Missense_V206I exm912054 11 57970876 [T/C] NM_001004459 OR1S2 EXON Missense_I260V exm912055 11 57970896 [A/G] NM_001004459 OR1S2 EXON Missense_T253I exm912059 11 57970926 [A/G] NM_001004459 OR1S2 EXON Missense_S243F exm912065 11 57970980 [A/G] NM_001004459 OR1S2 EXON Missense_V225A exm912082 11 57971206 [A/G] NM_001004459 OR1S2 EXON Missense_R150W exm912085 11 57971241 [T/G] NM_001004459 OR1S2 EXON Missense_A138E exm912100 11 57971478 [A/G] NM_001004459 OR1S2 EXON Missense_I59T exm912103 11 57971512 [A/G] NM_001004459 OR1S2 EXON Missense_Y48H exm912104 11 57971546 [A/C] NM_001004459 OR1S2 EXON Missense_H36Q exm912112 11 57982229 [A/G] NM_001004458 OR1S1 EXON Missense_S5G exm912118 11 57982353 [A/G] NM_001004458 OR1S1 EXON Missense_G46D exm912125 11 57982413 [T/C] NM_001004458 OR1S1 EXON Missense_T66M exm912127 11 57982433 [T/C] NM_001004458 OR1S1 EXON Missense_Y73H exm912133 11 57982524 [A/G] NM_001004458 OR1S1 EXON Missense_Q103R exm912135 11 57982559 [T/A] NM_001004458 OR1S1 EXON Missense_Y115N exm912136 11 57982562 [T/C] NM_001004458 OR1S1 EXON Missense_F116L exm912148 11 57982635 [A/G] NM_001004458 OR1S1 EXON Missense_C140Y exm912154 11 57982676 [A/G] NM_001004458 OR1S1 EXON Missense_G154S exm912167 11 57982896 [T/G] NM_001004458 OR1S1 EXON Missense_S227I exm912193 11 57995396 [T/C] NM_001004471 OR10Q1 EXON Missense_A318T exm912194 11 57995414 [A/G] NM_001004471 OR10Q1 EXON Missense_R312C exm1720557 11 57995696 [A/G] NM_001004471 OR10Q1 EXON Missense_L218F exm912208 11 57995765 [T/C] NM_001004471 OR10Q1 EXON Missense_A195T exm912210 11 57995777 [A/G] NM_001004471 OR10Q1 EXON Missense_R191C exm912231 11 57996149 [T/G] NM_001004471 OR10Q1 EXON Missense_L67M exm912243 11 57996289 [A/G] NM_001004471 OR10Q1 EXON Missense_A20V exm912245 11 57996312 [G/C] NM_001004471 OR10Q1 EXON Missense_E12D exm912249 11 58034457 [T/C] NM_207374 OR10W1 EXON Missense_V292I exm912250 11 58034463 [T/C] NM_207374 OR10W1 EXON Missense_G290R exm912253 11 58034543 [T/C] NM_207374 OR10W1 EXON Missense_R263Q exm912256 11 58034597 [G/C] NM_207374 OR10W1 EXON Missense_C245S exm912261 11 58034651 [T/C] NM_207374 OR10W1 EXON Missense_R227Q exm912270 11 58034840 [T/C] NM_207374 OR10W1 EXON Missense_G164D exm912277 11 58034972 [A/G] NM_207374 OR10W1 EXON Missense_P120L exm912281 11 58035062 [T/G] NM_207374 OR10W1 EXON Missense_T90N exm912282 11 58035078 [A/G] NM_207374 OR10W1 EXON Missense_L85F exm912297 11 58125600 [A/G] NM_001005489 OR5B17 EXON Missense_X315Q exm912299 11 58125620 [T/C] NM_001005489 OR5B17 EXON Missense_Y308C exm912301 11 58125660 [T/C] NM_001005489 OR5B17 EXON Missense_V295M exm912304 11 58125740 [C/G] NM_001005489 OR5B17 EXON Missense_T268R exm912309 11 58125774 [A/G] NM_001005489 OR5B17 EXON Missense_Y257H exm912311 11 58125812 [A/G] NM_001005489 OR5B17 EXON Missense_I244T exm912314 11 58125865 [A/C] NM_001005489 OR5B17 EXON Missense_R226S exm912315 11 58125873 [A/G] NM_001005489 OR5B17 EXON Missense_L224F exm912324 11 58126055 [T/C] NM_001005489 OR5B17 EXON Missense_R163H exm912328 11 58126125 [G/C] NM_001005489 OR5B17 EXON Missense_A140P exm912331 11 58126153 [T/A] NM_001005489 OR5B17 EXON Nonsense_Y130X exm912332 11 58126173 [A/C] NM_001005489 OR5B17 EXON Missense_V124L exm912335 11 58126184 [T/C] NM_001005489 OR5B17 EXON Missense_R120H exm912336 11 58126185 [A/G] NM_001005489 OR5B17 EXON Missense_R120C exm912340 11 58126305 [A/T] NM_001005489 OR5B17 EXON Missense_L80I exm912342 11 58126340 [T/C] NM_001005489 OR5B17 EXON Missense_G68D exm912344 11 58126359 [A/T] NM_001005489 OR5B17 EXON Missense_S62C exm912352 11 58126472 [A/G] NM_001005489 OR5B17 EXON Missense_P24L exm912353 11 58126479 [A/G] NM_001005489 OR5B17 EXON Nonsense_Q22X exm912354 11 58126493 [T/C] NM_001005489 OR5B17 EXON Missense_N17S exm912389 11 58169996 [T/C] NM_001005469 OR5B3 EXON Missense_K296R exm912394 11 58170086 [A/G] NM_001005469 OR5B3 EXON Missense_M266T exm912398 11 58170144 [T/C] NM_001005469 OR5B3 EXON Missense_G247S exm912404 11 58170231 [A/G] NM_001005469 OR5B3 EXON Missense_F218L exm912408 11 58170291 [T/C] NM_001005469 OR5B3 EXON Missense_I198V exm912413 11 58170342 [T/C] NM_001005469 OR5B3 EXON Missense_A181T exm912414 11 58170374 [T/C] NM_001005469 OR5B3 EXON Missense_N170S exm912417 11 58170461 [T/C] NM_001005469 OR5B3 EXON Missense_R141H exm912418 11 58170462 [A/G] NM_001005469 OR5B3 EXON Missense_R141C exm912424 11 58170712 [T/C] NM_001005469 OR5B3 EXON Missense_M57I exm912426 11 58170738 [A/G] NM_001005469 OR5B3 EXON Missense_W49R exm912429 11 58170780 [T/A] NM_001005469 OR5B3 EXON Missense_I35F exm912432 11 58170794 [A/G] NM_001005469 OR5B3 EXON Missense_P30L exm912438 11 58189814 [T/A] NM_001005566 OR5B2 EXON Missense_K307N exm912448 11 58189993 [T/C] NM_001005566 OR5B2 EXON Missense_V248I exm912452 11 58190112 [A/G] NM_001005566 OR5B2 EXON Missense_V208A exm912453 11 58190136 [A/G] NM_001005566 OR5B2 EXON Missense_M200T exm912454 11 58190152 [T/C] NM_001005566 OR5B2 EXON Missense_V195M exm912455 11 58190160 [C/G] NM_001005566 OR5B2 EXON Missense_T192S exm912467 11 58190415 [A/G] NM_001005566 OR5B2 EXON Missense_T107M exm912473 11 58190488 [A/G] NM_001005566 OR5B2 EXON Missense_F83L exm912478 11 58190578 [T/G] NM_001005566 OR5B2 EXON Missense_L53I exm912479 11 58190598 [A/T] NM_001005566 OR5B2 EXON Missense_L46Q exm2267272 11 58205540 [A/G] exm912485 11 58206703 [T/C] NM_001004733 OR5B12 EXON Missense_A308T exm912486 11 58206714 [T/C] NM_001004733 OR5B12 EXON Missense_G304E exm912488 11 58206766 [A/C] NM_001004733 OR5B12 EXON Missense_V287F exm912491 11 58206867 [T/C] NM_001004733 OR5B12 EXON Missense_G253E exm912493 11 58206931 [A/G] NM_001004733 OR5B12 EXON Missense_R232C exm912498 11 58207015 [T/C] NM_001004733 OR5B12 EXON Missense_N204D exm912501 11 58207036 [A/T] NM_001004733 OR5B12 EXON Missense_I197F exm912504 11 58207106 [T/A] NM_001004733 OR5B12 EXON Missense_E173D exm912509 11 58207203 [T/C] NM_001004733 OR5B12 EXON Missense_C141Y exm912515 11 58207284 [T/G] NM_001004733 OR5B12 EXON Missense_A114E exm912518 11 58207364 [T/G] NM_001004733 OR5B12 EXON Missense_D87E exm912521 11 58207462 [T/A] NM_001004733 OR5B12 EXON Missense_T55S exm912523 11 58207494 [A/G] NM_001004733 OR5B12 EXON Missense_I44T exm912533 11 58274653 [T/C] NM_001005218 OR5B21 EXON Missense_Y309C exm912535 11 58274691 [A/C] NM_001005218 OR5B21 EXON Missense_S296R exm912538 11 58274744 [A/T] NM_001005218 OR5B21 EXON Missense_I279F exm912540 11 58274764 [T/G] NM_001005218 OR5B21 EXON Missense_S272Y exm912549 11 58274925 [T/C] NM_001005218 OR5B21 EXON Missense_I218M exm1720740 11 58275106 [A/G] NM_001005218 OR5B21 EXON Missense_A158V exm912560 11 58275220 [T/C] NM_001005218 OR5B21 EXON Missense_R120H exm912561 11 58275241 [A/G] NM_001005218 OR5B21 EXON Missense_L113P exm912563 11 58275271 [A/C] NM_001005218 OR5B21 EXON Missense_V103G exm912568 11 58275328 [T/C] NM_001005218 OR5B21 EXON Missense_R84Q exm912579 11 58295073 [A/G] NM_001143995,NM_004811 LPXN,LPXN EXON Missense_R344C,Missense_R339C exm1720748 11 58295175 [T/C] NM_001143995,NM_004811 LPXN,LPXN EXON Missense_T310A,Missense_T305A exm912586 11 58295177 [G/C] NM_001143995,NM_004811 LPXN,LPXN EXON Missense_S309C,Missense_S304C exm912598 11 58317454 [T/C] NM_001143995,NM_004811 LPXN,LPXN EXON Missense_I223V,Missense_I218V exm912606 11 58317528 [T/C] NM_001143995,NM_004811 LPXN,LPXN EXON Missense_R198Q,Missense_R193Q exm912621 11 58331665 [T/C] NM_001143995,NM_004811 LPXN,LPXN EXON Missense_V66M,Missense_V61M exm912626 11 58338030 [A/G] NM_001143995,NM_004811 LPXN,LPXN EXON Missense_P62L,Missense_P57L exm2274484 11 58338115 [T/G] NM_001143995,NM_004811 LPXN,LPXN EXON Missense_P34T,Missense_P29T exm912634 11 58338120 [A/G] NM_001143995,NM_004811 LPXN,LPXN EXON Missense_P32L,Missense_P27L exm912656 11 58377389 [T/C] NM_053023,NR_024091,NM_001197051 ZFP91,ZFP91-CNTF,ZFP91 EXON Missense_R153C,Silent,Missense_R153C exm912659 11 58377438 [A/G] NM_053023,NR_024091,NM_001197051 ZFP91,ZFP91-CNTF,ZFP91 EXON Missense_R169Q,Silent,Missense_R169Q exm912660 11 58377447 [A/G] NM_053023,NR_024091,NM_001197051 ZFP91,ZFP91-CNTF,ZFP91 EXON Missense_R172Q,Silent,Missense_R172Q exm912666 11 58377801 [A/G] NM_053023,NR_024091,NM_001197051 ZFP91,ZFP91-CNTF,ZFP91 EXON Missense_G204D,Silent,Missense_G204D exm912670 11 58378422 [A/G] NM_053023,NR_024091,NM_001197051 ZFP91,ZFP91-CNTF,ZFP91 Silent,Silent,Silent exm912679 11 58379197 [A/G] NM_053023,NR_024091,NM_001197051 ZFP91,ZFP91-CNTF,ZFP91 EXON Synonymous_E281E,Silent,Synonymous_E280E exm912709 11 58390293 [T/C] NR_024091,NM_000614 ZFP91-CNTF,CNTF EXON Silent,Missense_L23P exm912711 11 58390308 [A/G] NR_024091,NM_000614 ZFP91-CNTF,CNTF EXON Silent,Missense_R28H exm912717 11 58391538 [A/G] NR_024091,NM_000614 ZFP91-CNTF,CNTF EXON Silent,Missense_N49S exm912723 11 58391584 [G/C] NR_024091,NM_000614 ZFP91-CNTF,CNTF EXON Silent,Missense_W64C exm912728 11 58391682 [A/C] NR_024091,NM_000614 ZFP91-CNTF,CNTF EXON Silent,Missense_H97P exm912730 11 58391696 [A/G] NR_024091,NM_000614 ZFP91-CNTF,CNTF EXON Silent,Missense_E102K exm2218869 11 58391937 [A/G] NR_024091,NM_000614 ZFP91-CNTF,CNTF EXON Silent,Missense_H182R exm912743 11 58391957 [T/C] NR_024091,NM_000614 ZFP91-CNTF,CNTF EXON Silent,Missense_R189C exm2271507 11 58457495 [T/G] exm912751 11 58477315 [A/G] NM_201648 GLYAT EXON Missense_M272T exm2218871 11 58477379 [T/C] NM_201648 GLYAT EXON Missense_A251T exm912761 11 58477484 [T/G] NM_201648 GLYAT EXON Missense_P216T exm912765 11 58477534 [T/C] NM_201648 GLYAT EXON Missense_R199H exm912766 11 58477535 [A/G] NM_201648 GLYAT EXON Missense_R199C exm912776 11 58478084 [T/C] NM_201648,NM_005838 GLYAT,GLYAT EXON Missense_N156S,Missense_N156S exm1720913 11 58478159 [T/C] NM_201648,NM_005838 GLYAT,GLYAT EXON Missense_R131H,Missense_R131H exm1720914 11 58478160 [A/G] NM_201648,NM_005838 GLYAT,GLYAT EXON Missense_R131C,Missense_R131C exm912785 11 58480295 [T/G] NM_201648,NM_005838 GLYAT,GLYAT EXON Missense_N85T,Missense_N85T exm1720919 11 58480331 [A/G] NM_201648,NM_005838 GLYAT,GLYAT EXON Missense_T73I,Missense_T73I exm912788 11 58480355 [A/G] NM_201648,NM_005838 GLYAT,GLYAT EXON Missense_M65T,Missense_M65T exm912795 11 58491921 [T/A] NM_201648,NM_005838 GLYAT,GLYAT EXON Missense_S17T,Missense_S17T exm912807 11 58602177 [T/C] NM_145016 GLYATL2 EXON Missense_V204M exm912815 11 58602309 [T/C] NM_145016 GLYATL2 EXON Missense_E160K exm912820 11 58604562 [T/C] NM_145016 GLYATL2 EXON Missense_I134M exm912827 11 58604779 [T/C] NM_145016 GLYATL2 EXON Missense_N93S exm912828 11 58604780 [A/T] NM_145016 GLYATL2 EXON Missense_N93Y exm912831 11 58604806 [A/T] NM_145016 GLYATL2 EXON Missense_K84I exm1721011 11 58604860 [A/T] NM_145016 GLYATL2 EXON Missense_D66V exm912838 11 58605795 [A/C] NM_145016 GLYATL2 EXON Missense_M42R exm912839 11 58605796 [T/G] NM_145016 GLYATL2 EXON Missense_M42L exm912842 11 58605832 [T/C] NM_145016 GLYATL2 EXON Missense_A30T exm912851 11 58711067 [T/C] NM_001220494,NR_033853,NM_080661,NM_001220496 GLYATL1,LOC283194,GLYATL1,GLYATL1 EXON Silent,Silent,Nonsense_R26X,Silent exm912853 11 58711100 [A/G] NM_001220494,NR_033853,NM_080661,NM_001220496 GLYATL1,LOC283194,GLYATL1,GLYATL1 EXON Silent,Silent,Missense_I37V,Silent exm912854 11 58711109 [A/G] NM_001220494,NR_033853,NM_080661,NM_001220496 GLYATL1,LOC283194,GLYATL1,GLYATL1 EXON Silent,Silent,Missense_I40V,Silent exm1721190 11 58714574 [A/G] NM_001220494,NR_033853,NM_080661,NM_001220496 GLYATL1,LOC283194,GLYATL1,GLYATL1 EXON Missense_N5S,Silent,Silent,Missense_N5S exm912878 11 58722734 [T/G] NM_001220494,NR_033853,NM_080661,NM_001220496 GLYATL1,LOC283194,GLYATL1,GLYATL1 EXON Missense_L133F,Silent,Missense_L164F,Missense_L133F exm912882 11 58722766 [C/G] NM_001220494,NR_033853,NM_080661,NM_001220496 GLYATL1,LOC283194,GLYATL1,GLYATL1 EXON Missense_S144C,Silent,Missense_S175C,Missense_S144C exm912883 11 58723082 [T/G] NM_001220494,NR_033853,NM_080661,NM_001220496 GLYATL1,LOC283194,GLYATL1,GLYATL1 Silent,Silent,Silent,Silent exm912888 11 58723225 [A/G] NM_001220494,NR_033853,NM_080661,NM_001220496 GLYATL1,LOC283194,GLYATL1,GLYATL1 EXON Missense_G212S,Silent,Missense_G243S,Missense_G212S exm912890 11 58723261 [A/G] NM_001220494,NR_033853,NM_080661,NM_001220496 GLYATL1,LOC283194,GLYATL1,GLYATL1 EXON Missense_D224N,Silent,Missense_D255N,Missense_D224N exm912891 11 58723273 [T/G] NM_001220494,NR_033853,NM_080661,NM_001220496 GLYATL1,LOC283194,GLYATL1,GLYATL1 EXON Nonsense_E228X,Silent,Nonsense_E259X,Nonsense_E228X exm912894 11 58723319 [A/G] NM_001220494,NR_033853,NM_080661,NM_001220496 GLYATL1,LOC283194,GLYATL1,GLYATL1 EXON Missense_N243S,Silent,Missense_N274S,Missense_N243S exm912896 11 58723349 [A/G] NM_001220494,NR_033853,NM_080661,NM_001220496 GLYATL1,LOC283194,GLYATL1,GLYATL1 EXON Missense_K253R,Silent,Missense_K284R,Missense_K253R exm912918 11 58877152 [A/C] NM_198947,NM_001142703,NM_001142704 FAM111B,FAM111B,FAM111B EXON Missense_D18E,Silent,Silent exm912922 11 58891658 [T/G] NM_198947,NM_001142703,NM_001142704 FAM111B,FAM111B,FAM111B EXON Missense_V30F,Silent,Silent exm912943 11 58892090 [T/C] NM_198947,NM_001142703,NM_001142704 FAM111B,FAM111B,FAM111B EXON Missense_R174C,Missense_R144C,Missense_R144C exm912947 11 58892223 [A/G] NM_198947,NM_001142703,NM_001142704 FAM111B,FAM111B,FAM111B EXON Missense_G218D,Missense_G188D,Missense_G188D exm912948 11 58892246 [T/G] NM_198947,NM_001142703,NM_001142704 FAM111B,FAM111B,FAM111B EXON Missense_C226G,Missense_C196G,Missense_C196G exm912966 11 58892688 [A/G] NM_198947,NM_001142703,NM_001142704 FAM111B,FAM111B,FAM111B EXON Missense_R373Q,Missense_R343Q,Missense_R343Q exm912984 11 58893189 [A/G] NM_198947,NM_001142703,NM_001142704 FAM111B,FAM111B,FAM111B EXON Missense_N540S,Missense_N510S,Missense_N510S exm2250040 11 58893346 [A/G] NM_198947,NM_001142703,NM_001142704 FAM111B,FAM111B,FAM111B EXON Synonymous_V592V,Synonymous_V562V,Synonymous_V562V exm912990 11 58893362 [T/C] NM_198947,NM_001142703,NM_001142704 FAM111B,FAM111B,FAM111B EXON Nonsense_R598X,Nonsense_R568X,Nonsense_R568X exm912991 11 58893377 [C/G] NM_198947,NM_001142703,NM_001142704 FAM111B,FAM111B,FAM111B EXON Missense_P603A,Missense_P573A,Missense_P573A exm912996 11 58893483 [T/C] NM_198947,NM_001142703,NM_001142704 FAM111B,FAM111B,FAM111B EXON Missense_T638M,Missense_T608M,Missense_T608M exm913001 11 58893621 [A/G] NM_198947,NM_001142703,NM_001142704 FAM111B,FAM111B,FAM111B EXON Missense_G684D,Missense_G654D,Missense_G654D exm913004 11 58893761 [C/G] NM_198947,NM_001142703,NM_001142704 FAM111B,FAM111B,FAM111B EXON Missense_P731A,Missense_P701A,Missense_P701A exm913007 11 58916425 [T/C] NM_001142520,NM_001142519,NM_001142521,NM_198847,NM_022074 FAM111A,FAM111A,FAM111A,FAM111A,FAM111A EXON Missense_P27L,Missense_P27L,Missense_P27L,Missense_P27L,Missense_P27L exm913009 11 58919248 [A/G] NM_001142520,NM_001142519,NM_001142521,NM_198847,NM_022074 FAM111A,FAM111A,FAM111A,FAM111A,FAM111A EXON Missense_C36Y,Missense_C36Y,Missense_C36Y,Missense_C36Y,Missense_C36Y exm913017 11 58919451 [T/A] NM_001142520,NM_001142519,NM_001142521,NM_198847,NM_022074 FAM111A,FAM111A,FAM111A,FAM111A,FAM111A EXON Missense_L104I,Missense_L104I,Missense_L104I,Missense_L104I,Missense_L104I exm913022 11 58919527 [A/G] NM_001142520,NM_001142519,NM_001142521,NM_198847,NM_022074 FAM111A,FAM111A,FAM111A,FAM111A,FAM111A EXON Missense_R129H,Missense_R129H,Missense_R129H,Missense_R129H,Missense_R129H exm2218879 11 58919704 [G/C] NM_001142520,NM_001142519,NM_001142521,NM_198847,NM_022074 FAM111A,FAM111A,FAM111A,FAM111A,FAM111A EXON Missense_A188G,Missense_A188G,Missense_A188G,Missense_A188G,Missense_A188G exm913027 11 58919721 [T/A] NM_001142520,NM_001142519,NM_001142521,NM_198847,NM_022074 FAM111A,FAM111A,FAM111A,FAM111A,FAM111A EXON Missense_C194S,Missense_C194S,Missense_C194S,Missense_C194S,Missense_C194S exm913032 11 58919831 [T/A] NM_001142520,NM_001142519,NM_001142521,NM_198847,NM_022074 FAM111A,FAM111A,FAM111A,FAM111A,FAM111A EXON Missense_R230S,Missense_R230S,Missense_R230S,Missense_R230S,Missense_R230S exm913049 11 58920252 [T/A] NM_001142520,NM_001142519,NM_001142521,NM_198847,NM_022074 FAM111A,FAM111A,FAM111A,FAM111A,FAM111A EXON Missense_T371S,Missense_T371S,Missense_T371S,Missense_T371S,Missense_T371S exm913057 11 58920348 [A/G] NM_001142520,NM_001142519,NM_001142521,NM_198847,NM_022074 FAM111A,FAM111A,FAM111A,FAM111A,FAM111A EXON Missense_I403V,Missense_I403V,Missense_I403V,Missense_I403V,Missense_I403V exm913059 11 58920381 [T/C] NM_001142520,NM_001142519,NM_001142521,NM_198847,NM_022074 FAM111A,FAM111A,FAM111A,FAM111A,FAM111A EXON Missense_Y414H,Missense_Y414H,Missense_Y414H,Missense_Y414H,Missense_Y414H exm913061 11 58920426 [A/C] NM_001142520,NM_001142519,NM_001142521,NM_198847,NM_022074 FAM111A,FAM111A,FAM111A,FAM111A,FAM111A EXON Missense_P429T,Missense_P429T,Missense_P429T,Missense_P429T,Missense_P429T exm913063 11 58920440 [A/G] NM_001142520,NM_001142519,NM_001142521,NM_198847,NM_022074 FAM111A,FAM111A,FAM111A,FAM111A,FAM111A EXON Missense_I433M,Missense_I433M,Missense_I433M,Missense_I433M,Missense_I433M exm913064 11 58920492 [G/C] NM_001142520,NM_001142519,NM_001142521,NM_198847,NM_022074 FAM111A,FAM111A,FAM111A,FAM111A,FAM111A EXON Missense_Q451E,Missense_Q451E,Missense_Q451E,Missense_Q451E,Missense_Q451E exm913067 11 58920549 [A/C] NM_001142520,NM_001142519,NM_001142521,NM_198847,NM_022074 FAM111A,FAM111A,FAM111A,FAM111A,FAM111A EXON Missense_H470N,Missense_H470N,Missense_H470N,Missense_H470N,Missense_H470N exm1721361 11 58920603 [T/A] NM_001142520,NM_001142519,NM_001142521,NM_198847,NM_022074 FAM111A,FAM111A,FAM111A,FAM111A,FAM111A EXON Missense_I488F,Missense_I488F,Missense_I488F,Missense_I488F,Missense_I488F exm913069 11 58920606 [T/C] NM_001142520,NM_001142519,NM_001142521,NM_198847,NM_022074 FAM111A,FAM111A,FAM111A,FAM111A,FAM111A EXON Missense_P489S,Missense_P489S,Missense_P489S,Missense_P489S,Missense_P489S exm913072 11 58920729 [A/G] NM_001142520,NM_001142519,NM_001142521,NM_198847,NM_022074 FAM111A,FAM111A,FAM111A,FAM111A,FAM111A EXON Missense_I530V,Missense_I530V,Missense_I530V,Missense_I530V,Missense_I530V exm913078 11 58920849 [A/T] NM_001142520,NM_001142519,NM_001142521,NM_198847,NM_022074 FAM111A,FAM111A,FAM111A,FAM111A,FAM111A EXON Missense_S570C,Missense_S570C,Missense_S570C,Missense_S570C,Missense_S570C exm913103 11 58949400 [A/G] NM_015177 DTX4 EXON Missense_V134I exm913112 11 58949594 [A/G] NM_015177 DTX4 EXON Missense_M198I exm913114 11 58949610 [A/G] NM_015177 DTX4 EXON Missense_V204M exm913116 11 58949692 [T/C] NM_015177 DTX4 EXON Missense_P231L exm913120 11 58949770 [T/G] NM_015177 DTX4 EXON Missense_V257G exm913125 11 58949832 [G/C] NM_015177 DTX4 EXON Missense_P278A exm1721392 11 58949881 [A/G] NM_015177 DTX4 EXON Missense_R294H exm913131 11 58949917 [A/G] NM_015177 DTX4 EXON Missense_R306Q exm913144 11 58958632 [A/G] NM_015177 DTX4 EXON Missense_R402Q exm913147 11 58959592 [T/C] NM_015177 DTX4 EXON Missense_R415C exm913150 11 58959632 [T/C] NM_015177 DTX4 EXON Missense_T428M exm913174 11 58978258 [T/C] NM_001039396 MPEG1 EXON Missense_Q694R exm913203 11 58978684 [A/G] NM_001039396 MPEG1 EXON Missense_P552L exm913206 11 58978733 [A/C] NM_001039396 MPEG1 EXON Missense_V536F exm913214 11 58978924 [A/G] NM_001039396 MPEG1 EXON Missense_P472L exm913217 11 58978940 [T/C] NM_001039396 MPEG1 EXON Missense_A467T exm913228 11 58979101 [A/G] NM_001039396 MPEG1 EXON Missense_P413L exm913231 11 58979126 [T/G] NM_001039396 MPEG1 EXON Missense_P405T exm913239 11 58979255 [A/C] NM_001039396 MPEG1 EXON Missense_A362S exm913242 11 58979320 [T/C] NM_001039396 MPEG1 EXON Missense_R340H exm913266 11 58979794 [A/T] NM_001039396 MPEG1 EXON Missense_L182Q exm913276 11 58979891 [T/C] NM_001039396 MPEG1 EXON Missense_V150I exm1721417 11 58979972 [A/G] NM_001039396 MPEG1 EXON Missense_S123P exm913279 11 58980019 [T/C] NM_001039396 MPEG1 EXON Missense_Y107C exm913285 11 58980122 [T/C] NM_001039396 MPEG1 EXON Missense_T73A exm913288 11 58980176 [A/G] NM_001039396 MPEG1 EXON Missense_R55W exm913292 11 58980301 [A/G] NM_001039396 MPEG1 EXON Missense_A13V exm913293 11 58980311 [A/G] NM_001039396 MPEG1 EXON Missense_F10L exm2271508 11 59029485 [T/C] exm913295 11 59131938 [A/G] NM_001004729 OR5AN1 EXON Missense_G3R exm913314 11 59132302 [A/G] NM_001004729 OR5AN1 EXON Missense_Y124C exm913316 11 59132416 [G/C] NM_001004729 OR5AN1 EXON Missense_G162A exm913320 11 59132529 [A/G] NM_001004729 OR5AN1 EXON Missense_T200A exm913325 11 59132598 [T/G] NM_001004729 OR5AN1 EXON Missense_G223C exm913327 11 59132671 [A/C] NM_001004729 OR5AN1 EXON Missense_T247K exm913332 11 59132798 [G/C] NM_001004729 OR5AN1 EXON Missense_L289F exm913343 11 59189522 [A/C] NM_001001954 OR5A2 EXON Missense_M302R exm913347 11 59189660 [T/C] NM_001001954 OR5A2 EXON Missense_G256E exm913354 11 59189781 [A/G] NM_001001954 OR5A2 EXON Missense_L216F exm913358 11 59189816 [C/G] NM_001001954 OR5A2 EXON Missense_S204T exm913363 11 59189912 [A/G] NM_001001954 OR5A2 EXON Missense_P172L exm913375 11 59190120 [A/G] NM_001001954 OR5A2 EXON Missense_F103L exm913391 11 59210646 [T/C] NM_001004728 OR5A1 EXON Missense_S2F exm913392 11 59210726 [G/C] NM_001004728 OR5A1 EXON Missense_L29V exm913397 11 59210817 [A/G] NM_001004728 OR5A1 EXON Missense_H59R exm1721564 11 59210874 [C/G] NM_001004728 OR5A1 EXON Missense_S78C exm913407 11 59211014 [T/C] NM_001004728 OR5A1 EXON Nonsense_R125X exm913408 11 59211015 [A/G] NM_001004728 OR5A1 EXON Missense_R125Q exm913412 11 59211077 [T/C] NM_001004728 OR5A1 EXON Missense_R146C exm913413 11 59211078 [A/G] NM_001004728 OR5A1 EXON Missense_R146H exm913417 11 59211151 [G/C] NM_001004728 OR5A1 EXON Missense_H170Q exm913420 11 59211188 [A/G] NM_001004728 OR5A1 EXON Missense_D183N exm913422 11 59211254 [A/G] NM_001004728 OR5A1 EXON Missense_V205M exm913425 11 59211269 [A/G] NM_001004728 OR5A1 EXON Missense_G210R exm913431 11 59211366 [A/C] NM_001004728 OR5A1 EXON Missense_N242T exm913435 11 59211419 [A/T] NM_001004728 OR5A1 EXON Missense_F260I exm913439 11 59211431 [T/C] NM_001004728 OR5A1 EXON Nonsense_R264X exm913443 11 59211558 [A/C] NM_001004728 OR5A1 EXON Missense_K306T exm913446 11 59224464 [G/C] NM_001004708 OR4D6 EXON Missense_E11Q exm913447 11 59224472 [A/C] NM_001004708 OR4D6 EXON Missense_F13L exm913448 11 59224495 [A/G] NM_001004708 OR4D6 EXON Missense_R21Q exm913452 11 59224608 [A/G] NM_001004708 OR4D6 EXON Missense_M59V exm913454 11 59224618 [T/C] NM_001004708 OR4D6 EXON Missense_L62P exm913455 11 59224623 [T/C] NM_001004708 OR4D6 EXON Missense_R64W exm913457 11 59224628 [A/C] NM_001004708 OR4D6 EXON Missense_N65K exm913460 11 59224665 [A/G] NM_001004708 OR4D6 EXON Missense_V78I exm913463 11 59224693 [T/C] NM_001004708 OR4D6 EXON Missense_S87L exm913465 11 59224738 [T/C] NM_001004708 OR4D6 EXON Missense_F102S exm913466 11 59224765 [A/C] NM_001004708 OR4D6 EXON Missense_D111A exm913470 11 59224880 [A/G] NM_001004708 OR4D6 EXON Nonsense_W149X exm913471 11 59224885 [C/G] NM_001004708 OR4D6 EXON Missense_S151T exm913472 11 59224923 [T/C] NM_001004708 OR4D6 EXON Missense_L164F exm913475 11 59224995 [A/G] NM_001004708 OR4D6 EXON Missense_A188T exm913478 11 59225062 [T/G] NM_001004708 OR4D6 EXON Missense_W210L exm913479 11 59225103 [A/C] NM_001004708 OR4D6 EXON Missense_M224L exm2274486 11 59225130 [T/C] NM_001004708 OR4D6 EXON Missense_R233W exm913481 11 59225131 [T/G] NM_001004708 OR4D6 EXON Missense_R233L exm913483 11 59225142 [T/C] NM_001004708 OR4D6 EXON Missense_L237F exm913487 11 59225172 [A/G] NM_001004708 OR4D6 EXON Missense_V247M exm913488 11 59225187 [A/G] NM_001004708 OR4D6 EXON Missense_V252M exm913491 11 59225212 [A/G] NM_001004708 OR4D6 EXON Missense_R260Q exm913492 11 59225221 [T/C] NM_001004708 OR4D6 EXON Missense_M263T exm913493 11 59225232 [A/G] NM_001004708 OR4D6 EXON Missense_M267V exm913496 11 59225262 [A/G] NM_001004708 OR4D6 EXON Missense_V277I exm913498 11 59225306 [A/T] NM_001004708 OR4D6 EXON Missense_N291K exm913500 11 59225347 [T/G] NM_001004708 OR4D6 EXON Missense_L305R exm913501 11 59225358 [A/G] NM_001004708 OR4D6 EXON Missense_E309K exm913517 11 59245140 [A/G] NM_001004705 OR4D10 EXON Missense_K80E exm913538 11 59245416 [A/C] NM_001004705 OR4D10 EXON Missense_N172H exm913539 11 59245450 [A/G] NM_001004705 OR4D10 EXON Missense_R183Q exm913541 11 59245483 [T/C] NM_001004705 OR4D10 EXON Missense_I194T exm913559 11 59271238 [T/C] NM_001004706 OR4D11 EXON Missense_R64C exm913560 11 59271239 [A/G] NM_001004706 OR4D11 EXON Missense_R64H exm913562 11 59271256 [A/G] NM_001004706 OR4D11 EXON Missense_D70N exm913572 11 59271476 [C/G] NM_001004706 OR4D11 EXON Missense_A143G exm1721611 11 59271950 [T/G] NM_001004706 OR4D11 EXON Missense_L301R exm1721631 11 59282446 [T/C] NM_001004711 OR4D9 EXON Nonsense_R21X exm913596 11 59282460 [C/G] NM_001004711 OR4D9 EXON Missense_Q25H exm913601 11 59282536 [T/C] NM_001004711 OR4D9 EXON Missense_C51R exm913604 11 59282575 [T/C] NM_001004711 OR4D9 EXON Missense_R64C exm913606 11 59282608 [T/G] NM_001004711 OR4D9 EXON Missense_S75A exm913610 11 59282651 [T/C] NM_001004711 OR4D9 EXON Missense_T89I exm913626 11 59282803 [T/C] NM_001004711 OR4D9 EXON Nonsense_R140X exm913636 11 59282960 [C/G] NM_001004711 OR4D9 EXON Missense_T192S exm913640 11 59283041 [T/C] NM_001004711 OR4D9 EXON Missense_T219M exm913659 11 59283295 [T/C] NM_001004711 OR4D9 EXON Missense_R304W exm913660 11 59283299 [T/C] NM_001004711 OR4D9 EXON Missense_L305P exm913665 11 59344059 [T/G] NM_002556 OSBP EXON Missense_D805E exm913685 11 59348995 [A/G] NM_002556 OSBP EXON Missense_H571Y exm913692 11 59361499 [T/C] NM_002556 OSBP EXON Missense_R514Q exm913699 11 59368057 [C/G] NM_002556 OSBP EXON Missense_R408T exm913700 11 59368078 [A/G] NM_002556 OSBP EXON Missense_T401I exm913704 11 59368344 [T/C] NM_002556 OSBP EXON Missense_R376H exm913705 11 59368345 [A/G] NM_002556 OSBP EXON Missense_R376C exm913713 11 59369275 [T/C] NM_002556 OSBP EXON Missense_S287G exm913728 11 59382870 [A/C] NM_002556 OSBP EXON Missense_A90S exm913730 11 59382897 [T/C] NM_002556 OSBP EXON Missense_G81S exm913736 11 59405867 [T/C] NM_152716 PATL1 EXON Missense_R770Q exm913743 11 59406644 [T/C] NM_152716 PATL1 EXON Missense_R723Q exm913753 11 59410468 [T/C] NM_152716 PATL1 EXON Missense_Y645C exm913757 11 59415373 [C/G] NM_152716 PATL1 EXON Missense_H583D exm1721717 11 59419090 [T/C] NM_152716 PATL1 EXON Missense_K484R exm913772 11 59421532 [T/C] NM_152716 PATL1 EXON Missense_M349V exm913781 11 59423150 [A/G] NM_152716 PATL1 EXON Missense_L293F exm2250045 11 59448068 [T/G] exm913810 11 59480448 [A/G] NM_001005324 OR10V1 EXON Missense_Y291H exm913812 11 59480544 [T/G] NM_001005324 OR10V1 EXON Missense_I259L exm1721743 11 59480616 [A/G] NM_001005324 OR10V1 EXON Missense_R235C exm2274487 11 59480631 [A/G] NM_001005324 OR10V1 EXON Missense_R230W exm913822 11 59480732 [T/C] NM_001005324 OR10V1 EXON Missense_H196R exm913823 11 59480736 [T/C] NM_001005324 OR10V1 EXON Missense_V195I exm913827 11 59480759 [T/C] NM_001005324 OR10V1 EXON Missense_R187H exm1721747 11 59480760 [A/G] NM_001005324 OR10V1 EXON Missense_R187C exm913831 11 59480951 [T/C] NM_001005324 OR10V1 EXON Missense_Q123R exm913832 11 59480952 [A/G] NM_001005324 OR10V1 EXON Nonsense_Q123X exm913839 11 59481042 [T/C] NM_001005324 OR10V1 EXON Missense_V93I exm913844 11 59481119 [T/G] NM_001005324 OR10V1 EXON Missense_A67E exm1721754 11 59481155 [A/G] NM_001005324 OR10V1 EXON Missense_L55P exm913852 11 59481246 [T/C] NM_001005324 OR10V1 EXON Missense_M25V exm913860 11 59540697 [A/G] NM_004177,NM_001178040 STX3,STX3 EXON Missense_Q15R,Missense_Q15R exm913861 11 59540699 [A/G] NM_004177,NM_001178040 STX3,STX3 EXON Missense_D16N,Missense_D16N exm913868 11 59554573 [T/C] NM_004177,NM_001178040 STX3,STX3 EXON Missense_Y60H,Missense_Y60H exm913869 11 59554582 [A/G] NM_004177,NM_001178040 STX3,STX3 EXON Missense_I63V,Missense_I63V exm913870 11 59554589 [C/G] NM_004177,NM_001178040 STX3,STX3 EXON Missense_S65C,Missense_S65C exm913879 11 59557993 [T/C] NM_004177,NM_001178040 STX3,STX3 EXON Synonymous_S97S,Synonymous_S97S exm913889 11 59560645 [A/G] NM_004177,NM_001178040 STX3,STX3 EXON Synonymous_G180G,Synonymous_G180G exm913898 11 59562950 [T/C] NM_004177,NM_001178040 STX3,STX3 EXON Missense_R261W,Missense_R261W exm913902 11 59564795 [A/G] NM_004177,NM_001178040 STX3,STX3 EXON Missense_G276S,Silent exm913903 11 59564822 [T/C] NM_004177,NM_001178040 STX3,STX3 EXON Missense_S285P,Silent exm913904 11 59564825 [A/G] NM_004177,NM_001178040 STX3,STX3 EXON Missense_V286I,Silent exm913909 11 59573828 [A/G] NM_017840 MRPL16 EXON Missense_R250C exm1721807 11 59573896 [T/C] NM_017840 MRPL16 EXON Missense_R227Q exm913915 11 59573980 [T/C] NM_017840 MRPL16 EXON Missense_R199Q exm913917 11 59573999 [T/C] NM_017840 MRPL16 EXON Missense_G193R exm913924 11 59574125 [T/C] NM_017840 MRPL16 EXON Missense_V151M exm913945 11 59575292 [T/C] NM_017840 MRPL16 EXON Missense_R51K exm913946 11 59575316 [A/G] NM_017840 MRPL16 EXON Missense_S43F exm913947 11 59577364 [T/C] NM_017840 MRPL16 EXON Missense_G29S exm913958 11 59596990 [A/G] NM_005142 GIF EXON Synonymous_H407H exm913960 11 59599153 [A/T] NM_005142 GIF EXON Missense_E397V exm913963 11 59599205 [T/C] NM_005142 GIF EXON Missense_V380I exm913979 11 59603444 [A/G] NM_005142 GIF EXON Missense_P304S exm913983 11 59604689 [G/C] NM_005142 GIF EXON Missense_G277R exm913986 11 59604754 [T/C] NM_005142 GIF EXON Missense_N255S exm913999 11 59609972 [A/G] NM_005142 GIF EXON Missense_P152L exm914002 11 59610054 [A/G] NM_005142 GIF EXON Missense_P125S exm914007 11 59610581 [A/G] NM_005142 GIF EXON Missense_M97T exm914011 11 59611361 [T/C] NM_005142 GIF EXON Missense_D83N exm914013 11 59611390 [T/C] NM_005142 GIF EXON Missense_K73R exm914015 11 59611454 [A/T] NM_005142 GIF EXON Missense_Y52N exm914019 11 59611526 [T/C] NM_005142 GIF EXON Missense_V28I exm914020 11 59612847 [T/C] NM_005142 GIF Silent exm914021 11 59612859 [T/C] NM_005142 GIF EXON Missense_Q23R exm914023 11 59612901 [A/G] NM_005142 GIF EXON Missense_L9P exm914025 11 59620464 [T/C] NM_001062 TCN1 EXON Missense_R429H exm914036 11 59622138 [A/C] NM_001062 TCN1 EXON Missense_D370Y exm914041 11 59622263 [A/G] NM_001062 TCN1 EXON Missense_P328L exm914042 11 59622266 [C/G] NM_001062 TCN1 EXON Missense_P327R exm2250046 11 59622292 [A/G] NM_001062 TCN1 EXON Synonymous_S318S exm914045 11 59623354 [T/C] NM_001062 TCN1 EXON Missense_V309I exm914047 11 59623378 [A/C] NM_001062 TCN1 EXON Missense_D301Y exm914054 11 59623503 [T/C] NM_001062 TCN1 EXON Missense_N259S exm914055 11 59623531 [T/C] NM_001062 TCN1 EXON Missense_A250T exm914056 11 59626567 [T/C] NM_001062 TCN1 EXON Missense_T244A exm914061 11 59626644 [A/C] NM_001062 TCN1 EXON Missense_S218I exm914077 11 59630097 [T/C] NM_001062 TCN1 EXON Missense_D120N exm914079 11 59630112 [T/C] NM_001062 TCN1 EXON Missense_D115N exm914081 11 59630118 [T/C] NM_001062 TCN1 EXON Missense_I113V exm914083 11 59630139 [A/G] NM_001062 TCN1 EXON Missense_R106C exm914085 11 59630172 [A/G] NM_001062 TCN1 EXON Missense_L95F exm914093 11 59631466 [A/G] NM_001062 TCN1 EXON Missense_V58A exm914096 11 59631535 [T/C] NM_001062 TCN1 EXON Missense_R35H exm-rs526934 11 59633493 [A/G] NM_001062 TCN1 Silent exm-rs494374 11 59754931 [A/G] exm914109 11 59807978 [A/G] NM_173801 PLAC1L EXON Missense_G16S exm2250047 11 59811021 [A/G] NM_173801 PLAC1L EXON Synonymous_A48A exm914122 11 59811121 [T/G] NM_173801 PLAC1L Silent exm914140 11 59829956 [T/A] NM_006138,NM_001031666,NM_001031809 MS4A3,MS4A3,MS4A3 EXON Missense_N58Y,Silent,Silent exm914143 11 59829992 [A/G] NM_006138,NM_001031666,NM_001031809 MS4A3,MS4A3,MS4A3 EXON Missense_G70S,Silent,Silent exm2250048 11 59830015 [T/C] NM_006138,NM_001031666,NM_001031809 MS4A3,MS4A3,MS4A3 EXON Synonymous_H77H,Silent,Silent exm914159 11 59834583 [A/C] NM_006138,NM_001031666,NM_001031809 MS4A3,MS4A3,MS4A3 EXON Missense_N171H,Missense_N48H,Missense_N125H exm914174 11 59856240 [T/G] NM_000139,NM_001256916 MS4A2,MS4A2 EXON Missense_M1R,Missense_M1R exm914177 11 59857166 [A/G] NM_000139,NM_001256916 MS4A2,MS4A2 EXON Missense_V20M,Missense_V20M exm914178 11 59857175 [T/C] NM_000139,NM_001256916 MS4A2,MS4A2 EXON Missense_F23L,Missense_F23L exm914180 11 59857209 [T/C] NM_000139,NM_001256916 MS4A2,MS4A2 EXON Missense_S34F,Missense_S34F exm914182 11 59857220 [G/C] NM_000139,NM_001256916 MS4A2,MS4A2 EXON Missense_L38V,Missense_L38V exm914193 11 59860907 [A/G] NM_000139,NM_001256916 MS4A2,MS4A2 EXON Missense_S138N,Missense_S93N exm914194 11 59860922 [T/C] NM_000139,NM_001256916 MS4A2,MS4A2 EXON Missense_T143M,Missense_T98M exm1722051 11 59861026 [T/G] NM_000139,NM_001256916 MS4A2,MS4A2 EXON Missense_S178A,Missense_S133A exm914205 11 59861473 [T/G] NM_000139,NM_001256916 MS4A2,MS4A2 EXON Nonsense_G192X,Nonsense_G147X exm914209 11 59861532 [A/C] NM_000139,NM_001256916 MS4A2,MS4A2 EXON Missense_N211K,Missense_N166K exm914210 11 59863030 [A/G] NM_000139,NM_001256916 MS4A2,MS4A2 Silent,Silent exm914211 11 59863104 [A/G] NM_000139,NM_001256916 MS4A2,MS4A2 EXON Missense_E237G,Missense_E192G exm2271612 11 59865671 [T/C] NM_000139,NM_001256916 MS4A2,MS4A2 EXON Silent,Silent exm-rs610932 11 59939307 [T/G] NM_152851,NM_152852 MS4A6A,MS4A6A EXON Silent,Silent exm914215 11 59939727 [G/C] NM_152851,NM_152852 MS4A6A,MS4A6A Silent,Silent exm914220 11 59940500 [T/C] NM_152851,NM_152852,NM_001247999,NM_022349 MS4A6A,MS4A6A,MS4A6A,MS4A6A EXON Silent,Silent,Missense_V246M,Missense_V218M exm914223 11 59940535 [T/A] NM_152851,NM_152852,NM_001247999,NM_022349 MS4A6A,MS4A6A,MS4A6A,MS4A6A EXON Synonymous_A171A,Missense_L206Q,Missense_L234Q,Missense_L206Q exm914226 11 59940599 [T/A] NM_152851,NM_152852,NM_001247999,NM_022349 MS4A6A,MS4A6A,MS4A6A,MS4A6A EXON Missense_N150I,Missense_T185S,Missense_T213S,Missense_T185S exm914236 11 59945762 [T/C] NM_152851,NM_152852,NM_001247999,NM_022349 MS4A6A,MS4A6A,MS4A6A,MS4A6A EXON Missense_A104T,Missense_A104T,Missense_A132T,Missense_A104T exm914244 11 59947305 [A/C] NM_152851,NM_152852,NM_001247999,NM_022349 MS4A6A,MS4A6A,MS4A6A,MS4A6A EXON Missense_F94C,Missense_F94C,Missense_F122C,Missense_F94C exm2250050 11 59947343 [T/G] NM_152851,NM_152852,NM_001247999,NM_022349 MS4A6A,MS4A6A,MS4A6A,MS4A6A EXON Synonymous_T81T,Synonymous_T81T,Synonymous_T109T,Synonymous_T81T exm914245 11 59947343 [T/G] NM_152851,NM_152852,NM_001247999,NM_022349 MS4A6A,MS4A6A,MS4A6A,MS4A6A EXON Synonymous_T81T,Synonymous_T81T,Synonymous_T109T,Synonymous_T81T exm1722177 11 59947380 [A/G] NM_152851,NM_152852,NM_001247999,NM_022349 MS4A6A,MS4A6A,MS4A6A,MS4A6A EXON Missense_A69V,Missense_A69V,Missense_A97V,Missense_A69V exm914250 11 59949074 [T/C] NM_152851,NM_152852,NM_001247999,NM_022349 MS4A6A,MS4A6A,MS4A6A,MS4A6A EXON Missense_A43T,Missense_A43T,Missense_A71T,Missense_A43T exm1722181 11 59949106 [T/G] NM_152851,NM_152852,NM_001247999,NM_022349 MS4A6A,MS4A6A,MS4A6A,MS4A6A EXON Missense_Q32P,Missense_Q32P,Missense_Q60P,Missense_Q32P exm914251 11 59949143 [T/G] NM_152851,NM_152852,NM_001247999,NM_022349 MS4A6A,MS4A6A,MS4A6A,MS4A6A EXON Missense_N20H,Missense_N20H,Missense_N48H,Missense_N20H exm-rs1562990 11 60023087 [A/C] exm-rs4938933 11 60034429 [T/C] exm914263 11 60059810 [A/G] NM_148975,NM_001243266,NM_024021 MS4A4A,MS4A4A,MS4A4A EXON Missense_K52E,Missense_K52E,Missense_K33E exm914264 11 60059843 [A/C] NM_148975,NM_001243266,NM_024021 MS4A4A,MS4A4A,MS4A4A EXON Missense_P63T,Missense_P63T,Missense_P44T exm914266 11 60064686 [T/C] NM_148975,NM_001243266,NM_024021 MS4A4A,MS4A4A,MS4A4A EXON Missense_T73I,Missense_T73I,Missense_T54I exm2250051 11 60064732 [A/C] NM_148975,NM_001243266,NM_024021 MS4A4A,MS4A4A,MS4A4A EXON Synonymous_A88A,Synonymous_A88A,Synonymous_A69A exm914272 11 60064779 [A/C] NM_148975,NM_001243266,NM_024021 MS4A4A,MS4A4A,MS4A4A EXON Missense_T104K,Missense_T104K,Missense_T85K exm914282 11 60070111 [T/C] NM_148975,NM_001243266,NM_024021 MS4A4A,MS4A4A,MS4A4A EXON Missense_A156V,Silent,Missense_A137V exm914284 11 60070176 [A/G] NM_148975,NM_001243266,NM_024021 MS4A4A,MS4A4A,MS4A4A EXON Missense_M178V,Silent,Missense_M159V exm914285 11 60070182 [A/C] NM_148975,NM_001243266,NM_024021 MS4A4A,MS4A4A,MS4A4A EXON Missense_I180L,Silent,Missense_I161L exm914293 11 60073664 [T/C] NM_148975,NM_001243266,NM_024021 MS4A4A,MS4A4A,MS4A4A EXON Missense_T213I,Missense_T160I,Missense_T194I exm914302 11 60102384 [A/G] NM_139249 MS4A6E EXON Missense_I6V exm914303 11 60102386 [T/G] NM_139249 MS4A6E EXON Missense_I6M exm914304 11 60102391 [A/G] NM_139249 MS4A6E EXON Missense_N8S exm914305 11 60102396 [A/G] NM_139249 MS4A6E EXON Missense_T10A exm914311 11 60102507 [T/G] NM_139249 MS4A6E EXON Missense_V47F exm914314 11 60105215 [T/C] NM_139249 MS4A6E EXON Missense_V50A exm914324 11 60105365 [A/C] NM_139249 MS4A6E EXON Missense_Y100S exm2267179 11 60107105 [A/G] NM_139249 MS4A6E Silent exm914337 11 60150714 [A/G] NM_021201,NM_206938,NM_206940,NM_206939 MS4A7,MS4A7,MS4A7,MS4A7 EXON Missense_E34K,Missense_E34K,Missense_E34K,Missense_E34K exm914351 11 60152690 [G/C] NM_021201,NM_206938,NM_206940,NM_206939 MS4A7,MS4A7,MS4A7,MS4A7 EXON Missense_L93V,Silent,Silent,Missense_L93V exm914357 11 60154203 [A/G] NM_021201,NM_206938,NM_206940,NM_206939 MS4A7,MS4A7,MS4A7,MS4A7 EXON Missense_G99E,Missense_G54E,Missense_G54E,Missense_G99E exm914359 11 60154242 [A/C] NM_021201,NM_206938,NM_206940,NM_206939 MS4A7,MS4A7,MS4A7,MS4A7 EXON Missense_P112H,Missense_P67H,Missense_P67H,Missense_P112H exm914366 11 60156993 [T/C] NM_021201,NM_206938,NM_206940,NM_206939 MS4A7,MS4A7,MS4A7,MS4A7 EXON Missense_S157F,Missense_S112F,Missense_S112F,Missense_S157F exm914371 11 60157035 [T/C] NM_021201,NM_206938,NM_206940,NM_206939 MS4A7,MS4A7,MS4A7,MS4A7 EXON Missense_I171T,Missense_I126T,Missense_I126T,Missense_I171T exm914372 11 60157047 [A/T] NM_021201,NM_206938,NM_206940,NM_206939 MS4A7,MS4A7,MS4A7,MS4A7 EXON Missense_L175H,Missense_L130H,Missense_L130H,Missense_L175H exm914376 11 60160176 [A/C] NM_021201,NM_206938,NM_206940,NM_206939 MS4A7,MS4A7,MS4A7,MS4A7 EXON Missense_L189I,Missense_L144I,Missense_L144I,Missense_L189I exm2218903 11 60164180 [A/T] NM_032597,NM_001079692,NR_049733,NM_001261828,NM_001261827,NR_049734,NR_049732,NR_049731 MS4A14,MS4A14,MS4A14,MS4A14,MS4A14,MS4A14,MS4A14,MS4A14 EXON Missense_R43S,Missense_R43S,Silent,Missense_R43S,Missense_R43S,Silent,Silent,Silent exm914392 11 60164187 [A/G] NM_032597,NM_001079692,NR_049733,NM_001261828,NM_001261827,NR_049734,NR_049732,NR_049731 MS4A14,MS4A14,MS4A14,MS4A14,MS4A14,MS4A14,MS4A14,MS4A14 EXON Missense_G46R,Missense_G46R,Silent,Missense_G46R,Missense_G46R,Silent,Silent,Silent exm914404 11 60165452 [T/C] NM_032597,NM_001079692,NR_049733,NM_001261828,NM_001261827,NR_049734,NR_049732,NR_049731 MS4A14,MS4A14,MS4A14,MS4A14,MS4A14,MS4A14,MS4A14,MS4A14 EXON Missense_I89T,Missense_I89T,Silent,Missense_I89T,Missense_I89T,Silent,Silent,Silent exm914417 11 60170398 [T/C] NM_032597,NM_001079692,NR_049733,NM_001261828,NM_001261827,NR_049734,NR_049732,NR_049731 MS4A14,MS4A14,MS4A14,MS4A14,MS4A14,MS4A14,MS4A14,MS4A14 EXON Missense_T111M,Missense_T94M,Silent,Missense_T111M,Missense_T94M,Silent,Silent,Silent exm914419 11 60170428 [T/C] NM_032597,NM_001079692,NR_049733,NM_001261828,NM_001261827,NR_049734,NR_049732,NR_049731 MS4A14,MS4A14,MS4A14,MS4A14,MS4A14,MS4A14,MS4A14,MS4A14 EXON Missense_A121V,Missense_A104V,Silent,Missense_A121V,Missense_A104V,Silent,Silent,Silent exm914422 11 60170462 [A/C] NM_032597,NM_001079692,NR_049733,NM_001261828,NM_001261827,NR_049734,NR_049732,NR_049731 MS4A14,MS4A14,MS4A14,MS4A14,MS4A14,MS4A14,MS4A14,MS4A14 EXON Nonsense_Y132X,Nonsense_Y115X,Silent,Nonsense_Y132X,Nonsense_Y115X,Silent,Silent,Silent exm914430 11 60182970 [T/A] NM_032597,NM_001079692,NR_049733,NM_001261828,NM_001261827,NR_049734,NR_049732,NR_049731 MS4A14,MS4A14,MS4A14,MS4A14,MS4A14,MS4A14,MS4A14,MS4A14 EXON Missense_N177Y,Missense_N160Y,Silent,Missense_N210Y,Missense_N193Y,Silent,Silent,Silent exm914431 11 60182971 [A/G] NM_032597,NM_001079692,NR_049733,NM_001261828,NM_001261827,NR_049734,NR_049732,NR_049731 MS4A14,MS4A14,MS4A14,MS4A14,MS4A14,MS4A14,MS4A14,MS4A14 EXON Missense_N177S,Missense_N160S,Silent,Missense_N210S,Missense_N193S,Silent,Silent,Silent exm914435 11 60183024 [A/G] NM_032597,NM_001079692,NR_049733,NM_001261828,NM_001261827,NR_049734,NR_049732,NR_049731 MS4A14,MS4A14,MS4A14,MS4A14,MS4A14,MS4A14,MS4A14,MS4A14 EXON Missense_T195A,Missense_T178A,Silent,Missense_T228A,Missense_T211A,Silent,Silent,Silent exm914436 11 60183042 [A/T] NM_032597,NM_001079692,NR_049733,NM_001261828,NM_001261827,NR_049734,NR_049732,NR_049731 MS4A14,MS4A14,MS4A14,MS4A14,MS4A14,MS4A14,MS4A14,MS4A14 EXON Missense_I201F,Missense_I184F,Silent,Missense_I234F,Missense_I217F,Silent,Silent,Silent exm914439 11 60183079 [T/C] NM_032597,NM_001079692,NR_049733,NM_001261828,NM_001261827,NR_049734,NR_049732,NR_049731 MS4A14,MS4A14,MS4A14,MS4A14,MS4A14,MS4A14,MS4A14,MS4A14 EXON Missense_S213F,Missense_S196F,Silent,Missense_S246F,Missense_S229F,Silent,Silent,Silent exm914444 11 60183189 [T/C] NM_032597,NM_001079692,NR_049733,NM_001261828,NM_001261827,NR_049734,NR_049732,NR_049731 MS4A14,MS4A14,MS4A14,MS4A14,MS4A14,MS4A14,MS4A14,MS4A14 EXON Missense_P250S,Missense_P233S,Silent,Missense_P283S,Missense_P266S,Silent,Silent,Silent exm914447 11 60183297 [T/C] NM_032597,NM_001079692,NR_049733,NM_001261828,NM_001261827,NR_049734,NR_049732,NR_049731 MS4A14,MS4A14,MS4A14,MS4A14,MS4A14,MS4A14,MS4A14,MS4A14 EXON Missense_P286S,Missense_P269S,Silent,Missense_P319S,Missense_P302S,Silent,Silent,Silent exm2274488 11 60183349 [T/A] NM_032597,NM_001079692,NR_049733,NM_001261828,NM_001261827,NR_049734,NR_049732,NR_049731 MS4A14,MS4A14,MS4A14,MS4A14,MS4A14,MS4A14,MS4A14,MS4A14 EXON Missense_V303D,Missense_V286D,Silent,Missense_V336D,Missense_V319D,Silent,Silent,Silent exm914452 11 60183386 [A/G] NM_032597,NM_001079692,NR_049733,NM_001261828,NM_001261827,NR_049734,NR_049732,NR_049731 MS4A14,MS4A14,MS4A14,MS4A14,MS4A14,MS4A14,MS4A14,MS4A14 EXON Missense_I315M,Missense_I298M,Silent,Missense_I348M,Missense_I331M,Silent,Silent,Silent exm914454 11 60183412 [T/C] NM_032597,NM_001079692,NR_049733,NM_001261828,NM_001261827,NR_049734,NR_049732,NR_049731 MS4A14,MS4A14,MS4A14,MS4A14,MS4A14,MS4A14,MS4A14,MS4A14 EXON Missense_A324V,Missense_A307V,Silent,Missense_A357V,Missense_A340V,Silent,Silent,Silent exm914455 11 60183418 [A/C] NM_032597,NM_001079692,NR_049733,NM_001261828,NM_001261827,NR_049734,NR_049732,NR_049731 MS4A14,MS4A14,MS4A14,MS4A14,MS4A14,MS4A14,MS4A14,MS4A14 EXON Missense_P326Q,Missense_P309Q,Silent,Missense_P359Q,Missense_P342Q,Silent,Silent,Silent exm914459 11 60183517 [T/G] NM_032597,NM_001079692,NR_049733,NM_001261828,NM_001261827,NR_049734,NR_049732,NR_049731 MS4A14,MS4A14,MS4A14,MS4A14,MS4A14,MS4A14,MS4A14,MS4A14 EXON Missense_G359V,Missense_G342V,Silent,Missense_G392V,Missense_G375V,Silent,Silent,Silent exm914470 11 60183621 [A/G] NM_032597,NM_001079692,NR_049733,NM_001261828,NM_001261827,NR_049734,NR_049732,NR_049731 MS4A14,MS4A14,MS4A14,MS4A14,MS4A14,MS4A14,MS4A14,MS4A14 EXON Missense_A394T,Missense_A377T,Silent,Missense_A427T,Missense_A410T,Silent,Silent,Silent exm914472 11 60183655 [T/C] NM_032597,NM_001079692,NR_049733,NM_001261828,NM_001261827,NR_049734,NR_049732,NR_049731 MS4A14,MS4A14,MS4A14,MS4A14,MS4A14,MS4A14,MS4A14,MS4A14 EXON Missense_M405T,Missense_M388T,Silent,Missense_M438T,Missense_M421T,Silent,Silent,Silent exm914478 11 60183835 [A/T] NM_032597,NM_001079692,NR_049733,NM_001261828,NM_001261827,NR_049734,NR_049732,NR_049731 MS4A14,MS4A14,MS4A14,MS4A14,MS4A14,MS4A14,MS4A14,MS4A14 EXON Missense_M465K,Missense_M448K,Silent,Missense_M498K,Missense_M481K,Silent,Silent,Silent exm914483 11 60183937 [T/G] NM_032597,NM_001079692,NR_049733,NM_001261828,NM_001261827,NR_049734,NR_049732,NR_049731 MS4A14,MS4A14,MS4A14,MS4A14,MS4A14,MS4A14,MS4A14,MS4A14 EXON Missense_R499M,Missense_R482M,Silent,Missense_R532M,Missense_R515M,Silent,Silent,Silent exm914486 11 60184023 [T/C] NM_032597,NM_001079692,NR_049733,NM_001261828,NM_001261827,NR_049734,NR_049732,NR_049731 MS4A14,MS4A14,MS4A14,MS4A14,MS4A14,MS4A14,MS4A14,MS4A14 EXON Missense_P528S,Missense_P511S,Silent,Missense_P561S,Missense_P544S,Silent,Silent,Silent exm914494 11 60184191 [A/G] NM_032597,NM_001079692,NR_049733,NM_001261828,NM_001261827,NR_049734,NR_049732,NR_049731 MS4A14,MS4A14,MS4A14,MS4A14,MS4A14,MS4A14,MS4A14,MS4A14 EXON Missense_G584R,Missense_G567R,Silent,Missense_G617R,Missense_G600R,Silent,Silent,Silent exm914499 11 60184270 [T/C] NM_032597,NM_001079692,NR_049733,NM_001261828,NM_001261827,NR_049734,NR_049732,NR_049731 MS4A14,MS4A14,MS4A14,MS4A14,MS4A14,MS4A14,MS4A14,MS4A14 EXON Missense_P610L,Missense_P593L,Silent,Missense_P643L,Missense_P626L,Silent,Silent,Silent exm914501 11 60184277 [A/C] NM_032597,NM_001079692,NR_049733,NM_001261828,NM_001261827,NR_049734,NR_049732,NR_049731 MS4A14,MS4A14,MS4A14,MS4A14,MS4A14,MS4A14,MS4A14,MS4A14 EXON Missense_Q612H,Missense_Q595H,Silent,Missense_Q645H,Missense_Q628H,Silent,Silent,Silent exm914502 11 60184291 [T/C] NM_032597,NM_001079692,NR_049733,NM_001261828,NM_001261827,NR_049734,NR_049732,NR_049731 MS4A14,MS4A14,MS4A14,MS4A14,MS4A14,MS4A14,MS4A14,MS4A14 EXON Missense_P617L,Missense_P600L,Silent,Missense_P650L,Missense_P633L,Silent,Silent,Silent exm914504 11 60184299 [T/C] NM_032597,NM_001079692,NR_049733,NM_001261828,NM_001261827,NR_049734,NR_049732,NR_049731 MS4A14,MS4A14,MS4A14,MS4A14,MS4A14,MS4A14,MS4A14,MS4A14 EXON Nonsense_Q620X,Nonsense_Q603X,Silent,Nonsense_Q653X,Nonsense_Q636X,Silent,Silent,Silent exm914513 11 60184404 [T/C] NM_032597,NM_001079692,NR_049733,NM_001261828,NM_001261827,NR_049734,NR_049732,NR_049731 MS4A14,MS4A14,MS4A14,MS4A14,MS4A14,MS4A14,MS4A14,MS4A14 EXON Nonsense_Q655X,Nonsense_Q638X,Silent,Nonsense_Q688X,Nonsense_Q671X,Silent,Silent,Silent exm914518 11 60184467 [T/C] NM_032597,NM_001079692,NR_049733,NM_001261828,NM_001261827,NR_049734,NR_049732,NR_049731 MS4A14,MS4A14,MS4A14,MS4A14,MS4A14,MS4A14,MS4A14,MS4A14 EXON Missense_P676S,Missense_P659S,Silent,Missense_P709S,Missense_P692S,Silent,Silent,Silent exm914520 11 60197173 [T/C] NM_023945 MS4A5 EXON Missense_P9L exm914521 11 60197182 [T/C] NM_023945 MS4A5 EXON Missense_L12P exm914525 11 60197299 [A/G] NM_023945 MS4A5 EXON Missense_G51E exm914531 11 60199909 [T/C] NM_023945 MS4A5 EXON Missense_I103T exm2250057 11 60215178 [T/C] NM_023945 MS4A5 EXON Synonymous_P183P exm914541 11 60215206 [A/G] NM_023945 MS4A5 EXON Missense_D193N exm914556 11 60230577 [A/C] NM_152866,NM_021950 MS4A1,MS4A1 EXON Missense_L88I,Missense_L88I exm914559 11 60231809 [A/G] NM_152866,NM_021950 MS4A1,MS4A1 EXON Missense_K110E,Missense_K110E exm914562 11 60233409 [A/C] NM_152866,NM_021950 MS4A1,MS4A1 EXON Missense_I118L,Missense_I118L exm914574 11 60234492 [A/G] NM_152866,NM_021950 MS4A1,MS4A1 EXON Missense_V212I,Missense_V212I exm914576 11 60234514 [T/C] NM_152866,NM_021950 MS4A1,MS4A1 EXON Missense_T219M,Missense_T219M exm914592 11 60264849 [T/C] NM_001164470,NM_017716 MS4A12,MS4A12 EXON Missense_Y20H,Missense_Y20H exm914604 11 60265002 [T/C] NM_001164470,NM_017716 MS4A12,MS4A12 EXON Nonsense_Q71X,Nonsense_Q71X exm914610 11 60268555 [T/C] NM_001164470,NM_017716 MS4A12,MS4A12 EXON Silent,Missense_F105S exm914611 11 60268570 [A/G] NM_001164470,NM_017716 MS4A12,MS4A12 EXON Silent,Missense_C110Y exm914623 11 60271173 [T/G] NM_001164470,NM_017716 MS4A12,MS4A12 Silent,Silent exm914624 11 60271213 [T/G] NM_001164470,NM_017716 MS4A12,MS4A12 EXON Missense_L125V,Missense_L171V exm914627 11 60271259 [A/G] NM_001164470,NM_017716 MS4A12,MS4A12 EXON Missense_N140S,Missense_N186S exm914632 11 60274258 [A/G] NM_001164470,NM_017716 MS4A12,MS4A12 EXON Missense_V170I,Missense_V216I exm914640 11 60285564 [A/G] NM_001100909,NM_001012417 MS4A13,MS4A13 EXON Missense_G3D,Missense_G3D exm914641 11 60285575 [A/G] NM_001100909,NM_001012417 MS4A13,MS4A13 EXON Missense_I7V,Missense_I7V exm1722643 11 60285636 [T/C] NM_001100909,NM_001012417 MS4A13,MS4A13 EXON Missense_T27M,Missense_T27M exm914648 11 60291413 [T/C] NM_001100909,NM_001012417 MS4A13,MS4A13 EXON Missense_P58L,Missense_P58L exm914649 11 60291419 [A/G] NM_001100909,NM_001012417 MS4A13,MS4A13 EXON Missense_R60Q,Missense_R60Q exm914654 11 60296853 [A/G] NM_001100909,NM_001012417 MS4A13,MS4A13 EXON Missense_V68I,Missense_V108I exm914655 11 60296859 [T/C] NM_001100909,NM_001012417 MS4A13,MS4A13 EXON Missense_R70C,Missense_R110C exm914661 11 60310014 [T/C] NM_001100909,NM_001012417 MS4A13,MS4A13 EXON Missense_T102I,Missense_T142I exm914678 11 60468455 [T/C] NM_031457 MS4A8B EXON Missense_P41L exm914682 11 60468502 [A/G] NM_031457 MS4A8B EXON Missense_V57M exm914688 11 60470896 [A/G] NM_031457 MS4A8B EXON Missense_I89V exm914691 11 60470914 [T/G] NM_031457 MS4A8B EXON Missense_V95L exm914713 11 60482542 [G/C] NM_031457 MS4A8B EXON Missense_E195Q exm-rs7930940 11 60525786 [A/G] NM_001098835,NM_152717 MS4A15,MS4A15 Silent,Silent exm1722814 11 60531180 [T/C] NM_001098835,NM_152717 MS4A15,MS4A15 EXON Silent,Silent exm914724 11 60531262 [A/C] NM_001098835,NM_152717 MS4A15,MS4A15 EXON Missense_A19D,Silent exm914725 11 60531264 [A/G] NM_001098835,NM_152717 MS4A15,MS4A15 EXON Missense_S20G,Silent exm914728 11 60531315 [T/C] NM_001098835,NM_152717 MS4A15,MS4A15 EXON Missense_P37S,Silent exm914731 11 60531346 [T/G] NM_001098835,NM_152717 MS4A15,MS4A15 EXON Missense_L47R,Silent exm914735 11 60531393 [A/G] NM_001098835,NM_152717 MS4A15,MS4A15 EXON Missense_V63M,Silent exm914738 11 60535018 [T/C] NM_001098835,NM_152717 MS4A15,MS4A15 EXON Missense_L80F,Silent exm914742 11 60535105 [A/G] NM_001098835,NM_152717 MS4A15,MS4A15 EXON Missense_V109I,Missense_V16I exm914743 11 60535109 [A/C] NM_001098835,NM_152717 MS4A15,MS4A15 EXON Missense_P110H,Missense_P17H exm914751 11 60540884 [T/C] NM_001098835,NM_152717 MS4A15,MS4A15 EXON Missense_T142I,Missense_T49I exm914753 11 60540907 [T/G] NM_001098835,NM_152717 MS4A15,MS4A15 EXON Missense_A150S,Missense_A57S exm914755 11 60540957 [G/C] NM_001098835,NM_152717 MS4A15,MS4A15 EXON Synonymous_R166R,Synonymous_R73R exm914760 11 60541371 [A/C] NM_001098835,NM_152717 MS4A15,MS4A15 EXON Missense_A187E,Missense_A94E exm914764 11 60541424 [G/C] NM_001098835,NM_152717 MS4A15,MS4A15 Silent,Silent exm914772 11 60557840 [A/G] NM_206893 MS4A10 EXON Missense_R11H exm914780 11 60558455 [A/C] NM_206893 MS4A10 EXON Missense_H64Q exm914785 11 60558496 [T/C] NM_206893 MS4A10 EXON Missense_L78P exm914788 11 60559747 [T/G] NM_206893 MS4A10 EXON Missense_S105A exm914791 11 60561473 [A/T] NM_206893 MS4A10 EXON Missense_I130N exm1722881 11 60561505 [A/G] NM_206893 MS4A10 EXON Missense_V141I exm914807 11 60565891 [T/C] NM_206893 MS4A10 EXON Missense_P209L exm914810 11 60565921 [T/C] NM_206893 MS4A10 EXON Missense_P219L exm914811 11 60565924 [T/C] NM_206893 MS4A10 EXON Missense_V220A exm914816 11 60565968 [A/C] NM_206893 MS4A10 EXON Missense_Q235K exm1722897 11 60567368 [G/C] NM_206893 MS4A10 EXON Missense_Q264E exm914833 11 60609622 [T/C] NM_024098 CCDC86 EXON Nonsense_R9X exm2218910 11 60609660 [G/C] NM_024098 CCDC86 EXON Missense_S21R exm914844 11 60609938 [T/C] NM_024098 CCDC86 EXON Missense_P114L exm914846 11 60610024 [T/G] NM_024098 CCDC86 EXON Nonsense_E143X exm914852 11 60610100 [A/C] NM_024098 CCDC86 EXON Missense_Q168P exm1722945 11 60615444 [A/G] NM_024098 CCDC86 EXON Missense_R269Q exm914870 11 60617426 [A/G] NM_024098 CCDC86 EXON Missense_R301H exm914872 11 60617428 [C/G] NM_024098 CCDC86 EXON Missense_R302G exm914873 11 60617465 [A/G] NM_024098 CCDC86 EXON Missense_R314Q exm914876 11 60617703 [C/G] NM_024098 CCDC86 EXON Missense_R330G exm914877 11 60617715 [A/C] NM_024098 CCDC86 EXON Missense_K334Q exm914886 11 60620020 [T/G] NM_004778 PTGDR2 EXON Missense_S392R exm914903 11 60620585 [A/G] NM_004778 PTGDR2 EXON Missense_V204A exm914915 11 60620796 [T/C] NM_004778 PTGDR2 EXON Missense_V134M exm914918 11 60620982 [T/G] NM_004778 PTGDR2 EXON Missense_H72N exm914936 11 60636633 [A/G] NM_207341 ZP1 EXON Missense_R71Q exm914938 11 60636698 [A/G] NM_207341 ZP1 EXON Missense_V93I exm914942 11 60637010 [A/G] NM_207341 ZP1 EXON Missense_D107N exm914947 11 60637110 [T/C] NM_207341 ZP1 EXON Missense_P140L exm1722982 11 60637217 [A/G] NM_207341 ZP1 EXON Missense_G176S exm914951 11 60637235 [G/C] NM_207341 ZP1 EXON Missense_P182A exm914952 11 60637254 [T/G] NM_207341 ZP1 EXON Missense_S188I exm914956 11 60637844 [A/G] NM_207341 ZP1 EXON Missense_G241E exm914957 11 60637861 [A/G] NM_207341 ZP1 EXON Missense_V247M exm914970 11 60638573 [A/G] NM_207341 ZP1 EXON Missense_V324M exm914974 11 60638753 [A/C] NM_207341 ZP1 EXON Missense_P360T exm914976 11 60640660 [A/G] NM_207341 ZP1 EXON Missense_A380T exm914977 11 60640672 [A/C] NM_207341 ZP1 EXON Missense_L384M exm914981 11 60640719 [A/G] NM_207341 ZP1 EXON Missense_M399I exm1723000 11 60640751 [A/G] NM_207341 ZP1 EXON Missense_R410Q exm914984 11 60640850 [A/G] NM_207341 ZP1 EXON Missense_E415K exm914985 11 60640854 [T/C] NM_207341 ZP1 EXON Missense_T416I exm914998 11 60641166 [T/C] NM_207341 ZP1 EXON Missense_P497L exm915018 11 60658694 [T/C] NM_014502 PRPF19 EXON Missense_A487T exm2250060 11 60658731 [A/G] NM_014502 PRPF19 EXON Synonymous_H474H exm915041 11 60666746 [T/G] NM_014502 PRPF19 EXON Missense_T287P exm915057 11 60670328 [T/G] NM_014502 PRPF19 EXON Missense_T91N exm915064 11 60671295 [C/G] NM_014502 PRPF19 EXON Missense_V20L exm915073 11 60687275 [A/G] NM_024092 TMEM109 EXON Missense_R37Q exm915081 11 60688427 [A/G] NM_024092 TMEM109 EXON Missense_A103T exm915083 11 60688455 [T/C] NM_024092 TMEM109 EXON Missense_L112P exm1723097 11 60689426 [T/C] NM_024092 TMEM109 EXON Missense_A174V exm915100 11 60689534 [T/C] NM_024092 TMEM109 EXON Missense_A210V exm915105 11 60689590 [T/C] NM_024092 TMEM109 EXON Missense_R229C exm915107 11 60689618 [A/G] NM_024092 TMEM109 EXON Missense_R238H exm915131 11 60695216 [A/G] NM_017870,NM_178031 TMEM132A,TMEM132A EXON Missense_R140Q,Missense_R140Q exm915134 11 60695324 [A/G] NM_017870,NM_178031 TMEM132A,TMEM132A EXON Missense_R176H,Missense_R176H exm915144 11 60696284 [T/C] NM_017870,NM_178031 TMEM132A,TMEM132A EXON Missense_R240C,Missense_R240C exm915152 11 60696362 [T/C] NM_017870,NM_178031 TMEM132A,TMEM132A EXON Missense_R266W,Missense_R266W exm915161 11 60698104 [A/G] NM_017870,NM_178031 TMEM132A,TMEM132A EXON Missense_R330H,Missense_R330H exm915163 11 60699165 [G/C] NM_017870,NM_178031 TMEM132A,TMEM132A EXON Missense_L342V,Missense_L341V exm915164 11 60699213 [A/G] NM_017870,NM_178031 TMEM132A,TMEM132A EXON Missense_T358A,Missense_T357A exm2250062 11 60699530 [T/C] NM_017870,NM_178031 TMEM132A,TMEM132A EXON Synonymous_D430D,Synonymous_D429D exm915180 11 60701035 [A/G] NM_017870,NM_178031 TMEM132A,TMEM132A EXON Missense_V461M,Missense_V460M exm915225 11 60703403 [A/G] NM_017870,NM_178031 TMEM132A,TMEM132A EXON Missense_R700H,Missense_R699H exm915226 11 60703423 [A/G] NM_017870,NM_178031 TMEM132A,TMEM132A EXON Missense_V707I,Missense_V706I exm915238 11 60703628 [T/C] NM_017870,NM_178031 TMEM132A,TMEM132A EXON Missense_P775L,Missense_P774L exm915243 11 60703711 [A/G] NM_017870,NM_178031 TMEM132A,TMEM132A EXON Missense_G803R,Missense_G802R exm915246 11 60703777 [A/G] NM_017870,NM_178031 TMEM132A,TMEM132A EXON Missense_E825K,Missense_E824K exm915249 11 60703815 [A/G] NM_017870,NM_178031 TMEM132A,TMEM132A EXON Missense_M837I,Missense_M836I exm915253 11 60703876 [T/C] NM_017870,NM_178031 TMEM132A,TMEM132A EXON Missense_F858L,Missense_F857L exm915254 11 60703882 [A/G] NM_017870,NM_178031 TMEM132A,TMEM132A EXON Missense_V860M,Missense_V859M exm915260 11 60703998 [T/G] NM_017870,NM_178031 TMEM132A,TMEM132A EXON Missense_W898C,Missense_W897C exm915261 11 60704039 [A/G] NM_017870,NM_178031 TMEM132A,TMEM132A EXON Missense_R912Q,Missense_R911Q exm1723138 11 60704123 [A/G] NM_017870,NM_178031 TMEM132A,TMEM132A EXON Missense_G940D,Missense_G939D exm1723139 11 60704125 [T/C] NM_017870,NM_178031 TMEM132A,TMEM132A EXON Missense_P941S,Missense_P940S exm915268 11 60704154 [A/C] NM_017870,NM_178031 TMEM132A,TMEM132A EXON Missense_S950R,Missense_S949R exm915269 11 60704156 [A/C] NM_017870,NM_178031 TMEM132A,TMEM132A EXON Missense_T951N,Missense_T950N exm915270 11 60704183 [A/G] NM_017870,NM_178031 TMEM132A,TMEM132A EXON Missense_R960Q,Missense_R959Q exm915285 11 60704714 [A/G] NM_016582,NR_027391 SLC15A3,SLC15A3 EXON Missense_R575C,Silent exm915286 11 60704740 [A/G] NM_016582,NR_027391 SLC15A3,SLC15A3 EXON Missense_A566V,Silent exm915288 11 60704782 [A/G] NM_016582,NR_027391 SLC15A3,SLC15A3 EXON Missense_T552M,Silent exm915299 11 60705470 [A/G] NM_016582,NR_027391 SLC15A3,SLC15A3 EXON Missense_P488L,Silent exm915308 11 60708611 [A/G] NM_016582,NR_027391 SLC15A3,SLC15A3 EXON Missense_T420I,Silent exm1723162 11 60708671 [T/C] NM_016582,NR_027391 SLC15A3,SLC15A3 EXON Missense_R400Q,Silent exm915312 11 60708672 [A/G] NM_016582,NR_027391 SLC15A3,SLC15A3 EXON Missense_R400W,Silent exm915313 11 60708687 [T/C] NM_016582,NR_027391 SLC15A3,SLC15A3 EXON Missense_D395N,Silent exm915314 11 60708696 [A/G] NM_016582,NR_027391 SLC15A3,SLC15A3 EXON Missense_R392C,Silent exm2218925 11 60709508 [A/G] NM_016582,NR_027391 SLC15A3,SLC15A3 EXON Missense_T369M,Silent exm915317 11 60709520 [A/C] NM_016582,NR_027391 SLC15A3,SLC15A3 EXON Missense_G365V,Silent exm915321 11 60709555 [G/C] NM_016582,NR_027391 SLC15A3,SLC15A3 EXON Missense_N353K,Silent exm915325 11 60711202 [T/C] NM_016582,NR_027391 SLC15A3,SLC15A3 EXON Missense_V319I,Silent exm915335 11 60714017 [A/G] NM_016582,NR_027391 SLC15A3,SLC15A3 EXON Nonsense_R279X,Silent exm915337 11 60714046 [A/G] NM_016582,NR_027391 SLC15A3,SLC15A3 EXON Missense_L269P,Silent exm915339 11 60714085 [A/G] NM_016582,NR_027391 SLC15A3,SLC15A3 EXON Missense_P256L,Silent exm915345 11 60714262 [T/C] NM_016582,NR_027391 SLC15A3,SLC15A3 EXON Missense_R197H,Silent exm915349 11 60714292 [A/C] NM_016582,NR_027391 SLC15A3,SLC15A3 EXON Missense_V187G,Silent exm915357 11 60718792 [T/C] NM_016582,NR_027391 SLC15A3,SLC15A3 EXON Missense_V78I,Silent exm915368 11 60739372 [T/C] NM_006725,NM_001254750,NR_045638,NM_001254751 CD6,CD6,CD6,CD6 EXON Missense_T12M,Missense_T12M,Silent,Missense_T12M exm-rs17824933 11 60760612 [G/C] NM_006725,NM_001254750,NR_045638,NM_001254751 CD6,CD6,CD6,CD6 Silent,Silent,Silent,Silent exm915376 11 60775227 [T/C] NM_006725,NM_001254750,NR_045638,NM_001254751 CD6,CD6,CD6,CD6 EXON Missense_P105L,Missense_P105L,Silent,Missense_P105L exm915386 11 60776186 [T/C] NM_006725,NM_001254750,NR_045638,NM_001254751 CD6,CD6,CD6,CD6 EXON Missense_T217M,Missense_T217M,Silent,Missense_T217M exm915388 11 60776209 [T/C] NM_006725,NM_001254750,NR_045638,NM_001254751 CD6,CD6,CD6,CD6 EXON Missense_R225W,Missense_R225W,Silent,Missense_R225W exm915395 11 60777045 [A/G] NM_006725,NM_001254750,NR_045638,NM_001254751 CD6,CD6,CD6,CD6 EXON Synonymous_E261E,Synonymous_E261E,Silent,Synonymous_E261E exm915396 11 60777073 [A/G] NM_006725,NM_001254750,NR_045638,NM_001254751 CD6,CD6,CD6,CD6 EXON Missense_A271T,Missense_A271T,Silent,Missense_A271T exm915415 11 60781436 [T/C] NM_006725,NM_001254750,NR_045638,NM_001254751 CD6,CD6,CD6,CD6 EXON Missense_P446L,Silent,Silent,Missense_P446L exm915431 11 60785263 [A/G] NM_006725,NM_001254750,NR_045638,NM_001254751 CD6,CD6,CD6,CD6 EXON Missense_T539A,Missense_T507A,Silent,Missense_T498A exm915443 11 60785395 [T/G] NM_006725,NM_001254750,NR_045638,NM_001254751 CD6,CD6,CD6,CD6 EXON Missense_W583G,Missense_W551G,Silent,Missense_W542G exm915446 11 60785482 [T/C] NM_006725,NM_001254750,NR_045638,NM_001254751 CD6,CD6,CD6,CD6 EXON Missense_S612P,Missense_S580P,Silent,Missense_S571P exm915454 11 60785862 [C/G] NM_006725,NM_001254750,NR_045638,NM_001254751 CD6,CD6,CD6,CD6 EXON Missense_P647A,Silent,Silent,Silent exm-rs4939490 11 60793651 [C/G] exm2259827 11 60841281 [T/G] exm915465 11 60870066 [T/G] NM_014207 CD5 EXON Missense_L12V exm915475 11 60882546 [A/G] NM_014207 CD5 EXON Missense_R25Q exm915491 11 60885800 [A/G] NM_014207 CD5 EXON Missense_R83Q exm915496 11 60886423 [T/C] NM_014207 CD5 EXON Missense_P146L exm915504 11 60886777 [A/G] NM_014207 CD5 EXON Missense_G179S exm1723383 11 60886850 [A/G] NM_014207 CD5 EXON Missense_N203S exm915509 11 60886913 [T/C] NM_014207 CD5 EXON Missense_P224L exm915513 11 60887007 [T/G] NM_014207 CD5 EXON Missense_K255N exm915517 11 60889226 [T/C] NM_014207 CD5 EXON Missense_R317W exm1723388 11 60889260 [A/G] NM_014207 CD5 EXON Missense_R328Q exm915523 11 60889266 [A/T] NM_014207 CD5 EXON Missense_L330Q exm915525 11 60889289 [T/C] NM_014207 CD5 EXON Missense_R338W exm915526 11 60889290 [A/G] NM_014207 CD5 EXON Missense_R338Q exm915529 11 60889365 [T/G] NM_014207 CD5 EXON Missense_V363G exm915531 11 60890408 [A/G] NM_014207 CD5 EXON Missense_A377T exm915534 11 60890465 [A/G] NM_014207 CD5 EXON Missense_V396M exm915538 11 60890500 [G/C] NM_014207 CD5 EXON Missense_K407N exm915541 11 60891358 [T/C] NM_014207 CD5 EXON Missense_R410C exm915542 11 60891367 [A/C] NM_014207 CD5 EXON Missense_K413Q exm915546 11 60892525 [T/C] NM_014207 CD5 EXON Missense_T434M exm915549 11 60892536 [T/C] NM_014207 CD5 EXON Nonsense_R438X exm915552 11 60892605 [T/C] NM_014207 CD5 EXON Missense_H461Y exm915553 11 60892606 [A/G] NM_014207 CD5 EXON Missense_H461R exm915555 11 60893235 [T/C] NM_014207 CD5 EXON Missense_A471V exm915566 11 60899476 [T/C] NM_017966 VPS37C EXON Missense_G295D exm915572 11 60899600 [A/C] NM_017966 VPS37C EXON Missense_G254C exm915573 11 60899645 [T/C] NM_017966 VPS37C EXON Missense_G239R exm915576 11 60899686 [A/G] NM_017966 VPS37C EXON Missense_P225L exm915578 11 60899717 [T/C] NM_017966 VPS37C EXON Missense_V215M exm915580 11 60899767 [A/G] NM_017966 VPS37C EXON Missense_L198S exm915584 11 60899822 [A/G] NM_017966 VPS37C EXON Missense_R180C exm915585 11 60899827 [A/G] NM_017966 VPS37C EXON Missense_P178L exm915594 11 60899915 [A/G] NM_017966 VPS37C EXON Missense_R149C exm915597 11 60899932 [A/G] NM_017966 VPS37C EXON Missense_S143F exm915600 11 60900795 [G/C] NM_017966 VPS37C EXON Missense_A94P exm915601 11 60900807 [T/C] NM_017966 VPS37C EXON Missense_K90E exm2276181 11 60901583 [A/G] NM_017966 VPS37C EXON Missense_R64C exm915606 11 60901634 [A/G] NM_017966 VPS37C EXON Missense_R47W exm915612 11 60906279 [T/G] NM_017966 VPS37C EXON Missense_T8N exm2250067 11 61017189 [T/C] NM_014224 PGA5 EXON Synonymous_A274A exm915693 11 61026169 [T/C] NM_152718 VWCE EXON Missense_R949Q exm915694 11 61026170 [A/G] NM_152718 VWCE EXON Missense_R949W exm915700 11 61026259 [T/C] NM_152718 VWCE EXON Missense_R919H exm915711 11 61026419 [A/G] NM_152718 VWCE EXON Nonsense_Q866X exm915721 11 61026536 [T/C] NM_152718 VWCE EXON Missense_A827T exm915725 11 61026640 [A/G] NM_152718 VWCE EXON Missense_S792L exm915726 11 61026652 [T/G] NM_152718 VWCE EXON Missense_T788K exm915729 11 61026713 [A/G] NM_152718 VWCE EXON Missense_R768W exm915775 11 61044130 [T/G] NM_152718 VWCE EXON Missense_S477Y exm1723661 11 61045894 [T/C] NM_152718 VWCE EXON Missense_N460S exm915783 11 61045927 [T/A] NM_152718 VWCE EXON Missense_V449D exm915784 11 61045948 [G/C] NM_152718 VWCE EXON Missense_G442A exm915786 11 61048108 [A/G] NM_152718 VWCE EXON Missense_P438S exm915791 11 61048362 [T/C] NM_152718 VWCE EXON Missense_R378Q exm915811 11 61048663 [A/G] NM_152718 VWCE EXON Missense_R278W exm915843 11 61058986 [A/G] NM_152718 VWCE EXON Missense_A58V exm915845 11 61059000 [C/G] NM_152718 VWCE EXON Missense_C53W exm915849 11 61062446 [A/G] NM_152718 VWCE EXON Nonsense_R22X exm2218942 11 61081819 [T/C] NM_001923 DDB1 EXON Missense_Y517C exm2218943 11 61081955 [T/C] NM_001923 DDB1 EXON Missense_T472A exm915927 11 61090547 [A/G] NM_001923 DDB1 EXON Missense_L314S exm915950 11 61099067 [T/C] NM_001923 DDB1 EXON Missense_K53R exm915954 11 61099151 [A/G] NM_001923 DDB1 EXON Missense_S25L exm1723833 11 61105458 [A/G] NM_015533 DAK EXON Missense_A17T exm915970 11 61106544 [T/C] NM_015533 DAK EXON Missense_I67T exm915977 11 61106642 [A/G] NM_015533 DAK EXON Missense_G100S exm915981 11 61106765 [A/G] NM_015533 DAK EXON Missense_R115Q exm915990 11 61108974 [A/G] NM_015533 DAK EXON Missense_A185T exm915992 11 61109303 [C/G] NM_015533 DAK EXON Missense_G192R exm915999 11 61109941 [A/G] NM_015533 DAK EXON Missense_G222R exm916002 11 61109960 [A/G] NM_015533 DAK EXON Missense_R228Q exm916009 11 61110130 [A/G] NM_015533 DAK EXON Missense_G259S exm-IND11-60867390 11 61110815 [D/I] NM_015533 DAK EXON exm916019 11 61110820 [A/G] NM_015533 DAK EXON Missense_R291H exm916026 11 61111346 [G/C] NM_015533 DAK EXON Missense_A334G exm916036 11 61111643 [T/C] NM_015533 DAK EXON Missense_R380W exm916041 11 61111733 [T/C] NM_015533 DAK EXON Missense_R410C exm2250072 11 61111738 [A/G] NM_015533 DAK EXON Synonymous_A411A exm916043 11 61112732 [A/C] NM_015533 DAK EXON Missense_A414E exm916047 11 61112837 [T/C] NM_015533 DAK EXON Missense_A449V exm916051 11 61113007 [T/C] NM_015533 DAK EXON Missense_A474V exm916064 11 61113871 [A/G] NM_015533 DAK EXON Missense_G542R exm916065 11 61113899 [A/G] NM_015533 DAK EXON Missense_R551Q exm916082 11 61118494 [T/C] NM_001161454,NM_001161452,NM_153611 CYBASC3,CYBASC3,CYBASC3 EXON Missense_R242H,Missense_R225H,Missense_R225H exm916088 11 61120521 [T/C] NM_001161454,NM_001161452,NM_153611 CYBASC3,CYBASC3,CYBASC3 EXON Missense_A179T,Missense_A162T,Missense_A162T exm916089 11 61120536 [T/C] NM_001161454,NM_001161452,NM_153611 CYBASC3,CYBASC3,CYBASC3 EXON Missense_V174I,Missense_V157I,Missense_V157I exm916094 11 61121264 [T/C] NM_001161454,NM_001161452,NM_153611 CYBASC3,CYBASC3,CYBASC3 EXON Missense_A146T,Missense_A129T,Missense_A129T exm916123 11 61131956 [T/C] NM_016464,NR_028473 TMEM138,TMEM138 EXON Nonsense_Q32X,Silent exm916132 11 61133635 [A/G] NM_016464,NR_028473 TMEM138,TMEM138 EXON Missense_I83V,Silent exm916146 11 61136152 [C/G] NM_016464,NR_028473 TMEM138,TMEM138 EXON Missense_R154G,Silent exm916147 11 61136153 [A/G] NM_016464,NR_028473 TMEM138,TMEM138 EXON Missense_R154H,Silent exm916151 11 61161430 [T/G] NM_001173990,NM_001173991,NM_016499 TMEM216,TMEM216,TMEM216 EXON Missense_V71L,Missense_V71L,Missense_V10L exm916161 11 61165305 [T/A] NM_001173990,NM_001173991,NM_016499 TMEM216,TMEM216,TMEM216 EXON Missense_F97I,Missense_F97I,Missense_F36I exm916172 11 61165741 [C/G] NM_001173990,NM_001173991,NM_016499 TMEM216,TMEM216,TMEM216 EXON Silent,Missense_R147T,Missense_R86T exm916181 11 61179392 [T/C] NM_024811,NM_001136040,NM_001142565 CPSF7,CPSF7,CPSF7 EXON Missense_I411V,Missense_I368V,Missense_I359V exm916194 11 61183865 [T/C] NM_024811,NM_001136040,NM_001142565 CPSF7,CPSF7,CPSF7 EXON Missense_N269S,Missense_N226S,Missense_N217S exm916204 11 61187493 [T/C] NM_024811,NM_001136040,NM_001142565 CPSF7,CPSF7,CPSF7 EXON Missense_N194D,Missense_N151D,Missense_N151D exm916213 11 61188968 [T/C] NM_024811,NM_001136040,NM_001142565 CPSF7,CPSF7,CPSF7 EXON Missense_R99H,Missense_R56H,Missense_R56H exm916222 11 61197625 [T/G] NM_017841 SDHAF2 EXON Missense_V3L exm916227 11 61197650 [T/C] NM_017841 SDHAF2 EXON Missense_S11L exm916232 11 61205157 [T/C] NM_017841 SDHAF2 EXON Missense_R33C exm916242 11 61205534 [T/C] NM_017841 SDHAF2 EXON Missense_R107C exm916244 11 61205546 [A/G] NM_017841 SDHAF2 EXON Missense_E111K exm916252 11 61213532 [A/G] NM_017841 SDHAF2 EXON Missense_K164E exm916260 11 61249390 [A/G] NM_145017,NM_001170753 PPP1R32,PPP1R32 EXON Missense_G37S,Missense_G37S exm916263 11 61249804 [A/G] NM_145017,NM_001170753 PPP1R32,PPP1R32 EXON Missense_R44H,Missense_R44H exm916273 11 61249891 [T/C] NM_145017,NM_001170753 PPP1R32,PPP1R32 EXON Missense_P73L,Missense_P73L exm916279 11 61250246 [A/G] NM_145017,NM_001170753 PPP1R32,PPP1R32 EXON Missense_R116Q,Missense_R116Q exm916280 11 61250261 [T/C] NM_145017,NM_001170753 PPP1R32,PPP1R32 EXON Missense_A121V,Missense_A121V exm2250079 11 61252177 [T/C] NM_145017,NM_001170753 PPP1R32,PPP1R32 EXON Synonymous_F133F,Synonymous_F133F exm916286 11 61252193 [A/G] NM_145017,NM_001170753 PPP1R32,PPP1R32 EXON Missense_G139R,Missense_G139R exm916287 11 61252194 [A/G] NM_145017,NM_001170753 PPP1R32,PPP1R32 EXON Missense_G139E,Missense_G139E exm916288 11 61252200 [A/G] NM_145017,NM_001170753 PPP1R32,PPP1R32 EXON Missense_Q141R,Missense_Q141R exm916296 11 61252283 [T/C] NM_145017,NM_001170753 PPP1R32,PPP1R32 EXON Nonsense_R169X,Nonsense_R169X exm916297 11 61252284 [A/G] NM_145017,NM_001170753 PPP1R32,PPP1R32 EXON Missense_R169Q,Missense_R169Q exm916301 11 61252831 [A/G] NM_145017,NM_001170753 PPP1R32,PPP1R32 EXON Missense_E178K,Missense_E178K exm916305 11 61253278 [T/G] NM_145017,NM_001170753 PPP1R32,PPP1R32 EXON Missense_L194F,Missense_L194F exm916306 11 61253294 [A/G] NM_145017,NM_001170753 PPP1R32,PPP1R32 EXON Missense_G200S,Missense_G200S exm916315 11 61253841 [A/C] NM_145017,NM_001170753 PPP1R32,PPP1R32 EXON Missense_T238N,Silent exm916322 11 61254009 [T/C] NM_145017,NM_001170753 PPP1R32,PPP1R32 EXON Missense_L254P,Missense_L234P exm916324 11 61254054 [A/G] NM_145017,NM_001170753 PPP1R32,PPP1R32 EXON Missense_R269Q,Missense_R249Q exm916330 11 61254462 [T/C] NM_145017,NM_001170753 PPP1R32,PPP1R32 EXON Nonsense_Q293X,Nonsense_Q273X exm916331 11 61254514 [A/G] NM_145017,NM_001170753 PPP1R32,PPP1R32 EXON Missense_R310Q,Missense_R290Q exm916335 11 61254618 [G/C] NM_145017,NM_001170753 PPP1R32,PPP1R32 EXON Missense_E317Q,Missense_E297Q exm916342 11 61254687 [T/C] NM_145017,NM_001170753 PPP1R32,PPP1R32 EXON Nonsense_R340X,Nonsense_R320X exm916345 11 61257283 [A/C] NM_145017,NM_001170753 PPP1R32,PPP1R32 EXON Missense_D358A,Missense_D338A exm916354 11 61257987 [G/C] NM_145017,NM_001170753 PPP1R32,PPP1R32 EXON Missense_A408G,Missense_A388G exm916372 11 61290575 [T/C] NM_001252065,NM_004200 SYT7,SYT7 EXON Missense_K435R,Missense_K360R exm916400 11 61300525 [T/C] NM_001252065,NM_004200 SYT7,SYT7 EXON Missense_R171H,Missense_R96H exm2259828 11 61316307 [T/C] NM_001252065,NM_004200 SYT7,SYT7 Silent,Silent exm2250083 11 61437088 [A/G] exm916437 11 61490415 [T/C] NM_006133 DAGLA EXON Missense_A131V exm916441 11 61490928 [A/G] NM_006133 DAGLA EXON Synonymous_V144V exm2250084 11 61490928 [A/G] NM_006133 DAGLA EXON Synonymous_V144V exm916489 11 61507013 [G/C] NM_006133 DAGLA EXON Missense_A578G exm916509 11 61511036 [T/G] NM_006133 DAGLA EXON Missense_G735V exm916537 11 61511533 [T/C] NM_006133 DAGLA EXON Missense_R901C exm916538 11 61511534 [A/G] NM_006133 DAGLA EXON Missense_R901H exm916546 11 61511794 [C/G] NM_006133 DAGLA EXON Missense_L988V exm916563 11 61533183 [T/C] NM_001127392,NM_013279 MYRF,MYRF EXON Missense_L45F,Missense_L36F exm1724416 11 61533449 [A/G] NM_001127392,NM_013279 MYRF,MYRF EXON Missense_A52T,Missense_A43T exm916579 11 61537778 [A/G] NM_001127392,NM_013279 MYRF,MYRF EXON Missense_R174H,Missense_R165H exm916581 11 61537928 [T/G] NM_001127392,NM_013279 MYRF,MYRF EXON Missense_V224G,Missense_V215G exm916583 11 61537958 [T/C] NM_001127392,NM_013279 MYRF,MYRF EXON Missense_S234F,Missense_S225F exm916594 11 61539079 [T/C] NM_001127392,NM_013279 MYRF,MYRF EXON Missense_T283I,Missense_T274I exm916595 11 61539096 [C/G] NM_001127392,NM_013279 MYRF,MYRF EXON Missense_P289A,Missense_P280A exm916600 11 61539136 [T/C] NM_001127392,NM_013279 MYRF,MYRF EXON Missense_P302L,Missense_P293L exm916613 11 61539417 [A/G] NM_001127392,NM_013279 MYRF,MYRF EXON Missense_K370E,Missense_K361E exm916619 11 61541545 [A/G] NM_001127392,NM_013279 MYRF,MYRF EXON Missense_I408V,Missense_I399V exm916626 11 61543604 [T/C] NM_001127392,NM_013279 MYRF,MYRF EXON Missense_T463M,Missense_T454M exm916627 11 61543799 [A/G] NM_001127392,NM_013279 MYRF,MYRF EXON Missense_N465S,Missense_N456S exm916638 11 61545252 [T/G] NM_001127392,NM_013279 MYRF,MYRF EXON Missense_V613G,Missense_V604G exm1724458 11 61547354 [A/G] NM_001127392,NM_013279 MYRF,MYRF EXON Missense_R763H,Missense_R754H exm916659 11 61547695 [A/G] NM_001127392,NM_013279 MYRF,MYRF EXON Missense_V780M,Missense_V771M exm916660 11 61547711 [T/C] NM_001127392,NM_013279 MYRF,MYRF EXON Missense_T785I,Missense_T776I exm916677 11 61548796 [A/G] NM_001127392,NM_013279 MYRF,MYRF EXON Missense_R920H,Missense_R885H exm916690 11 61550979 [T/C] NM_001127392,NM_013279 MYRF,MYRF EXON Missense_L1009P,Silent exm916698 11 61551829 [A/G] NM_001127392,NM_013279 MYRF,MYRF EXON Missense_Q1091R,Missense_Q1051R exm916700 11 61553312 [A/G] NM_001127392,NM_013279 MYRF,MYRF EXON Missense_R1114H,Missense_R1074H exm916710 11 61557364 [T/C] NM_014206 TMEM258 EXON Missense_R48H exm-rs102275 11 61557803 [T/C] NM_014206 TMEM258 Silent exm916748 11 61563549 [A/G] NM_004111 FEN1 EXON Missense_R239Q exm1724502 11 61563610 [C/G] NM_004111 FEN1 EXON Missense_I259M exm916752 11 61563620 [G/C] NM_004111 FEN1 EXON Missense_L263V exm916753 11 61563639 [T/C] NM_004111 FEN1 EXON Missense_P269L exm-rs174546 11 61569830 [T/C] NM_013402 FADS1 EXON Silent exm916764 11 61570367 [A/G] NM_013402 FADS1 EXON Missense_H454Y exm916765 11 61570387 [A/G] NM_013402 FADS1 EXON Missense_T447M exm-rs174547 11 61570783 [T/C] NM_013402 FADS1 Silent exm-rs174550 11 61571478 [T/C] NM_013402 FADS1 Silent exm916774 11 61572171 [A/G] NM_013402 FADS1 EXON Nonsense_R347X exm-rs174570 11 61597212 [T/C] NM_004265 FADS2 Silent exm-rs1535 11 61597972 [A/G] NM_004265 FADS2 Silent exm916814 11 61605352 [A/G] NM_004265 FADS2 EXON Missense_G104S exm916815 11 61605360 [C/G] NM_004265 FADS2 EXON Missense_N106K exm-rs174583 11 61609750 [T/C] NM_004265 FADS2 Silent exm2218967 11 61643327 [T/C] NM_021727 FADS3 EXON Missense_V428I exm916881 11 61643641 [T/C] NM_021727 FADS3 EXON Missense_E368K exm1724610 11 61645058 [A/G] NM_021727 FADS3 EXON Synonymous_I270I exm916911 11 61646250 [T/C] NM_021727 FADS3 EXON Missense_V198M exm916912 11 61646266 [A/C] NM_021727 FADS3 EXON Missense_K192N exm916919 11 61646921 [T/C] NM_021727 FADS3 EXON Missense_D129N exm916938 11 61665832 [A/G] NM_013401,NM_001271686 RAB3IL1,RAB3IL1 EXON Missense_A356V,Missense_A330V exm916945 11 61669946 [A/G] NM_013401,NM_001271686 RAB3IL1,RAB3IL1 EXON Missense_H323Y,Missense_H297Y exm916948 11 61669967 [A/G] NM_013401,NM_001271686 RAB3IL1,RAB3IL1 EXON Missense_R316W,Missense_R290W exm916954 11 61672069 [A/G] NM_013401,NM_001271686 RAB3IL1,RAB3IL1 EXON Missense_S283L,Missense_S257L exm916967 11 61673981 [G/C] NM_013401,NM_001271686 RAB3IL1,RAB3IL1 EXON Missense_P205R,Silent exm916972 11 61674027 [A/G] NM_013401,NM_001271686 RAB3IL1,RAB3IL1 EXON Missense_S190P,Silent exm2250088 11 61722627 [G/C] NM_001139443,NM_004183 BEST1,BEST1 EXON Synonymous_L7L,Synonymous_L67L exm2218969 11 61724418 [T/C] NM_001139443,NM_004183 BEST1,BEST1 EXON Missense_A135V,Missense_A195V exm917030 11 61724453 [A/C] NM_001139443,NM_004183 BEST1,BEST1 EXON Missense_L147I,Missense_L207I exm917056 11 61727469 [A/G] NM_001139443,NM_004183 BEST1,BEST1 EXON Missense_A292T,Missense_A352T exm917057 11 61727478 [T/C] NM_001139443,NM_004183 BEST1,BEST1 EXON Missense_R295C,Missense_R355C exm917060 11 61727502 [A/C] NM_001139443,NM_004183 BEST1,BEST1 EXON Missense_T303P,Missense_T363P exm1724726 11 61729759 [A/G] NM_001139443,NM_004183 BEST1,BEST1 EXON Missense_N318S,Missense_N378S exm917067 11 61729830 [T/C] NM_001139443,NM_004183 BEST1,BEST1 EXON Missense_H342Y,Missense_H402Y exm917074 11 61729932 [A/G] NM_001139443,NM_004183 BEST1,BEST1 EXON Missense_V376I,Missense_V436I exm917085 11 61730100 [A/G] NM_001139443,NM_004183 BEST1,BEST1 EXON Missense_V432I,Missense_V492I exm917089 11 61730145 [T/C] NM_001139443,NM_004183 BEST1,BEST1 EXON Missense_S447P,Missense_S507P exm917095 11 61730197 [T/C] NM_001139443,NM_004183 BEST1,BEST1 EXON Missense_M464T,Missense_M524T exm917096 11 61730200 [A/C] NM_001139443,NM_004183 BEST1,BEST1 EXON Missense_E465A,Missense_E525A exm917100 11 61730295 [A/G] NM_001139443,NM_004183 BEST1,BEST1 EXON Missense_E497K,Missense_E557K exm917101 11 61730325 [T/C] NM_001139443,NM_004183 BEST1,BEST1 EXON Missense_L507F,Missense_L567F exm917108 11 61730427 [T/G] NM_001139443,NM_004183 BEST1,BEST1 EXON Missense_A541S,Silent exm917112 11 61730553 [T/C] NM_001139443,NM_004183 BEST1,BEST1 EXON Missense_S583P,Silent exm917114 11 61730619 [T/C] NM_001139443,NM_004183 BEST1,BEST1 EXON Missense_X605R,Silent exm917152 11 61895638 [T/G] NM_001040694,NM_020238 INCENP,INCENP EXON Missense_G2V,Missense_G2V exm917170 11 61897298 [A/G] NM_001040694,NM_020238 INCENP,INCENP EXON Missense_R100H,Missense_R100H exm917173 11 61897357 [G/C] NM_001040694,NM_020238 INCENP,INCENP EXON Missense_V120L,Missense_V120L exm917180 11 61897396 [A/G] NM_001040694,NM_020238 INCENP,INCENP EXON Missense_A133T,Missense_A133T exm917183 11 61897409 [T/C] NM_001040694,NM_020238 INCENP,INCENP EXON Missense_A137V,Missense_A137V exm917184 11 61897468 [A/G] NM_001040694,NM_020238 INCENP,INCENP EXON Missense_E157K,Missense_E157K exm1724804 11 61897567 [A/G] NM_001040694,NM_020238 INCENP,INCENP EXON Missense_E190K,Missense_E190K exm917190 11 61897580 [A/G] NM_001040694,NM_020238 INCENP,INCENP EXON Missense_R194H,Missense_R194H exm917192 11 61897592 [T/C] NM_001040694,NM_020238 INCENP,INCENP EXON Missense_P198L,Missense_P198L exm917196 11 61897739 [A/G] NM_001040694,NM_020238 INCENP,INCENP EXON Missense_G247E,Missense_G247E exm917198 11 61897753 [T/C] NM_001040694,NM_020238 INCENP,INCENP EXON Missense_R252W,Missense_R252W exm917202 11 61897799 [A/G] NM_001040694,NM_020238 INCENP,INCENP EXON Missense_R267Q,Missense_R267Q exm917204 11 61897832 [A/G] NM_001040694,NM_020238 INCENP,INCENP EXON Missense_R278Q,Missense_R278Q exm917207 11 61897840 [T/G] NM_001040694,NM_020238 INCENP,INCENP EXON Missense_V281L,Missense_V281L exm917213 11 61897909 [T/C] NM_001040694,NM_020238 INCENP,INCENP EXON Missense_R304W,Missense_R304W exm917230 11 61906207 [A/G] NM_001040694,NM_020238 INCENP,INCENP EXON Missense_E380K,Missense_E380K exm917231 11 61906216 [A/G] NM_001040694,NM_020238 INCENP,INCENP EXON Missense_E383K,Missense_E383K exm917237 11 61906397 [A/G] NM_001040694,NM_020238 INCENP,INCENP EXON Missense_N404S,Missense_N404S exm1724829 11 61907707 [A/G] NM_001040694,NM_020238 INCENP,INCENP EXON Synonymous_E431E,Synonymous_E431E exm917241 11 61907715 [T/C] NM_001040694,NM_020238 INCENP,INCENP EXON Missense_T434M,Missense_T434M exm917248 11 61908184 [A/G] NM_001040694,NM_020238 INCENP,INCENP EXON Missense_R451H,Missense_R451H exm917259 11 61908391 [T/C] NM_001040694,NM_020238 INCENP,INCENP EXON Missense_R490W,Missense_R490W exm917262 11 61908440 [T/C] NM_001040694,NM_020238 INCENP,INCENP EXON Missense_M506T,Missense_M506T exm917263 11 61908441 [A/G] NM_001040694,NM_020238 INCENP,INCENP EXON Missense_M506I,Missense_M506I exm917273 11 61912511 [T/C] NM_001040694,NM_020238 INCENP,INCENP EXON Missense_R555C,Missense_R551C exm917290 11 61913144 [T/C] NM_001040694,NM_020238 INCENP,INCENP EXON Missense_A627V,Missense_A623V exm917293 11 61913196 [T/G] NM_001040694,NM_020238 INCENP,INCENP EXON Missense_E644D,Missense_E640D exm917333 11 61919425 [A/G] NM_001040694,NM_020238 INCENP,INCENP EXON Missense_A912T,Missense_A908T exm917342 11 61957805 [T/C] NM_006552 SCGB1D1 EXON Missense_Y17H exm917343 11 61957807 [C/G] NM_006552 SCGB1D1 EXON Nonsense_Y17X exm917346 11 61959526 [A/G] NM_006552 SCGB1D1 Silent exm917347 11 61959531 [A/C] NM_006552 SCGB1D1 EXON Missense_N20T exm917349 11 61959570 [G/C] NM_006552 SCGB1D1 EXON Missense_G33A exm917354 11 61959632 [A/G] NM_006552 SCGB1D1 EXON Missense_E54K exm917355 11 61959636 [T/C] NM_006552 SCGB1D1 EXON Missense_A55V exm2271511 11 61971537 [T/C] exm917369 11 61976227 [C/G] NM_002407 SCGB2A1 EXON Missense_M8I exm917372 11 61976256 [T/C] NM_002407 SCGB2A1 EXON Missense_A18V exm917378 11 61977935 [A/G] NM_002407 SCGB2A1 EXON Missense_D36N exm917386 11 61981236 [T/A] NM_002407 SCGB2A1 EXON Missense_S94R exm917396 11 62010775 [T/C] NM_006551 SCGB1D2 EXON Missense_C24R exm917398 11 62010842 [T/C] NM_006551 SCGB1D2 EXON Missense_L46P exm917400 11 62010863 [T/C] NM_006551 SCGB1D2 EXON Missense_P53L exm917402 11 62010875 [T/C] NM_006551 SCGB1D2 EXON Missense_A57V exm917403 11 62010882 [T/G] NM_006551 SCGB1D2 EXON Missense_K59N exm917404 11 62010925 [T/C] NM_006551 SCGB1D2 EXON Nonsense_R74X exm917407 11 62010944 [T/C] NM_006551 SCGB1D2 EXON Missense_V80A exm917417 11 62037726 [C/G] NM_002411 SCGB2A2 EXON Missense_S13C exm917425 11 62038448 [A/G] NM_002411 SCGB2A2 EXON Missense_D51N exm917427 11 62038506 [T/C] NM_002411 SCGB2A2 EXON Missense_T70M exm917433 11 62040436 [T/C] NM_002411 SCGB2A2 EXON Missense_I84T exm917435 11 62040444 [A/G] NM_002411 SCGB2A2 EXON Missense_S87G exm917446 11 62064987 [A/C] NM_206998 SCGB1D4 EXON Missense_D67Y exm917447 11 62064992 [T/C] NM_206998 SCGB1D4 EXON Missense_C65Y exm917448 11 62065051 [T/A] NM_206998 SCGB1D4 EXON Missense_Q45H exm917460 11 62105546 [A/G] NM_001083926,NM_025080 ASRGL1,ASRGL1 EXON Missense_V33M,Missense_V33M exm917466 11 62123797 [A/G] NM_001083926,NM_025080 ASRGL1,ASRGL1 EXON Missense_G64D,Missense_G64D exm917473 11 62124513 [C/G] NM_001083926,NM_025080 ASRGL1,ASRGL1 EXON Missense_G130R,Missense_G130R exm917474 11 62124532 [A/G] NM_001083926,NM_025080 ASRGL1,ASRGL1 EXON Missense_G136E,Missense_G136E exm917476 11 62124597 [G/C] NM_001083926,NM_025080 ASRGL1,ASRGL1 EXON Missense_Q158E,Missense_Q158E exm917481 11 62156618 [A/G] NM_001083926,NM_025080 ASRGL1,ASRGL1 EXON Missense_V169M,Missense_V169M exm917485 11 62156681 [A/G] NM_001083926,NM_025080 ASRGL1,ASRGL1 EXON Missense_V190I,Missense_V190I exm917490 11 62156702 [A/G] NM_001083926,NM_025080 ASRGL1,ASRGL1 EXON Missense_V197I,Missense_V197I exm917498 11 62159553 [A/C] NM_001083926,NM_025080 ASRGL1,ASRGL1 EXON Missense_K242Q,Missense_K242Q exm917500 11 62159572 [T/C] NM_001083926,NM_025080 ASRGL1,ASRGL1 EXON Missense_A248V,Missense_A248V exm917507 11 62159715 [A/G] NM_001083926,NM_025080 ASRGL1,ASRGL1 EXON Missense_G296R,Missense_G296R exm917516 11 62186622 [A/G] NM_003357 SCGB1A1 EXON Missense_A19T exm2264450 11 62246596 [A/C] NM_024060 AHNAK Silent exm917533 11 62259222 [T/C] NM_024060 AHNAK EXON Missense_V142I exm917547 11 62284305 [C/G] NM_024060,NM_001620 AHNAK,AHNAK EXON Silent,Missense_L5862V exm917554 11 62284469 [A/G] NM_024060,NM_001620 AHNAK,AHNAK EXON Silent,Missense_S5807F exm917562 11 62284595 [T/G] NM_024060,NM_001620 AHNAK,AHNAK EXON Silent,Missense_K5765T exm917569 11 62284776 [T/C] NM_024060,NM_001620 AHNAK,AHNAK EXON Silent,Missense_V5705I exm1725068 11 62284797 [T/C] NM_024060,NM_001620 AHNAK,AHNAK EXON Silent,Missense_G5698S exm1725069 11 62284845 [A/C] NM_024060,NM_001620 AHNAK,AHNAK EXON Silent,Missense_V5682F exm1725070 11 62284915 [A/G] NM_024060,NM_001620 AHNAK,AHNAK EXON Silent,Synonymous_F5658F exm917579 11 62285115 [T/C] NM_024060,NM_001620 AHNAK,AHNAK EXON Silent,Missense_G5592S exm917583 11 62285286 [A/G] NM_024060,NM_001620 AHNAK,AHNAK EXON Silent,Missense_H5535Y exm917587 11 62285402 [T/C] NM_024060,NM_001620 AHNAK,AHNAK EXON Silent,Missense_G5496E exm917591 11 62285441 [A/G] NM_024060,NM_001620 AHNAK,AHNAK EXON Silent,Missense_I5483T exm917594 11 62285541 [A/G] NM_024060,NM_001620 AHNAK,AHNAK EXON Silent,Missense_P5450S exm917595 11 62285571 [T/C] NM_024060,NM_001620 AHNAK,AHNAK EXON Silent,Missense_V5440M exm917598 11 62285621 [T/C] NM_024060,NM_001620 AHNAK,AHNAK EXON Silent,Missense_N5423S exm917600 11 62285634 [T/C] NM_024060,NM_001620 AHNAK,AHNAK EXON Silent,Missense_D5419N exm917602 11 62285642 [A/G] NM_024060,NM_001620 AHNAK,AHNAK EXON Silent,Missense_P5416L exm917603 11 62285646 [T/C] NM_024060,NM_001620 AHNAK,AHNAK EXON Silent,Missense_T5415A exm2250093 11 62285665 [T/C] NM_024060,NM_001620 AHNAK,AHNAK EXON Silent,Synonymous_L5408L exm917608 11 62285721 [T/G] NM_024060,NM_001620 AHNAK,AHNAK EXON Silent,Missense_P5390T exm917621 11 62285912 [A/G] NM_024060,NM_001620 AHNAK,AHNAK EXON Silent,Missense_A5326V exm917623 11 62286000 [T/C] NM_024060,NM_001620 AHNAK,AHNAK EXON Silent,Missense_V5297I exm917626 11 62286044 [A/C] NM_024060,NM_001620 AHNAK,AHNAK EXON Silent,Missense_G5282V exm917639 11 62286247 [T/G] NM_024060,NM_001620 AHNAK,AHNAK EXON Silent,Missense_S5214R exm917653 11 62286597 [T/A] NM_024060,NM_001620 AHNAK,AHNAK EXON Silent,Nonsense_K5098X exm917654 11 62286666 [T/C] NM_024060,NM_001620 AHNAK,AHNAK EXON Silent,Missense_V5075M exm917657 11 62286693 [G/C] NM_024060,NM_001620 AHNAK,AHNAK EXON Silent,Missense_G5066R exm917665 11 62286893 [A/G] NM_024060,NM_001620 AHNAK,AHNAK EXON Silent,Missense_T4999I exm917666 11 62286899 [A/T] NM_024060,NM_001620 AHNAK,AHNAK EXON Silent,Missense_D4997V exm917675 11 62287085 [A/G] NM_024060,NM_001620 AHNAK,AHNAK EXON Silent,Missense_P4935L exm917677 11 62287107 [G/C] NM_024060,NM_001620 AHNAK,AHNAK EXON Silent,Missense_P4928A exm917679 11 62287166 [A/G] NM_024060,NM_001620 AHNAK,AHNAK EXON Silent,Missense_S4908L exm917683 11 62287454 [A/G] NM_024060,NM_001620 AHNAK,AHNAK EXON Silent,Missense_S4812L exm917686 11 62287497 [A/G] NM_024060,NM_001620 AHNAK,AHNAK EXON Silent,Missense_P4798S exm917691 11 62287578 [T/C] NM_024060,NM_001620 AHNAK,AHNAK EXON Silent,Missense_V4771I exm2218985 11 62287715 [T/C] NM_024060,NM_001620 AHNAK,AHNAK EXON Silent,Missense_D4725G exm917720 11 62288106 [T/C] NM_024060,NM_001620 AHNAK,AHNAK EXON Silent,Missense_M4595V exm917721 11 62288130 [A/G] NM_024060,NM_001620 AHNAK,AHNAK EXON Silent,Missense_H4587Y exm917722 11 62288135 [T/C] NM_024060,NM_001620 AHNAK,AHNAK EXON Silent,Missense_D4585G exm917725 11 62288156 [T/C] NM_024060,NM_001620 AHNAK,AHNAK EXON Silent,Missense_G4578D exm2274491 11 62288268 [T/C] NM_024060,NM_001620 AHNAK,AHNAK EXON Silent,Missense_V4541I exm917727 11 62288342 [T/C] NM_024060,NM_001620 AHNAK,AHNAK EXON Silent,Missense_S4516N exm917735 11 62288462 [A/T] NM_024060,NM_001620 AHNAK,AHNAK EXON Silent,Missense_D4476V exm917736 11 62288508 [T/C] NM_024060,NM_001620 AHNAK,AHNAK EXON Silent,Missense_M4461V exm917741 11 62288543 [T/A] NM_024060,NM_001620 AHNAK,AHNAK EXON Silent,Missense_M4449K exm917749 11 62288649 [G/C] NM_024060,NM_001620 AHNAK,AHNAK EXON Silent,Missense_L4414V exm917750 11 62288685 [C/G] NM_024060,NM_001620 AHNAK,AHNAK EXON Silent,Missense_D4402H exm917754 11 62288837 [T/C] NM_024060,NM_001620 AHNAK,AHNAK EXON Silent,Missense_K4351R exm917760 11 62288978 [T/C] NM_024060,NM_001620 AHNAK,AHNAK EXON Silent,Missense_D4304G exm917785 11 62289420 [T/C] NM_024060,NM_001620 AHNAK,AHNAK EXON Silent,Missense_D4157N exm917798 11 62289758 [A/G] NM_024060,NM_001620 AHNAK,AHNAK EXON Silent,Missense_I4044T exm917799 11 62289767 [T/C] NM_024060,NM_001620 AHNAK,AHNAK EXON Silent,Missense_K4041R exm917801 11 62289776 [T/C] NM_024060,NM_001620 AHNAK,AHNAK EXON Silent,Missense_K4038R exm917803 11 62289818 [C/G] NM_024060,NM_001620 AHNAK,AHNAK EXON Silent,Missense_P4024R exm917836 11 62290719 [A/G] NM_024060,NM_001620 AHNAK,AHNAK EXON Silent,Missense_S3724P exm917843 11 62290857 [C/G] NM_024060,NM_001620 AHNAK,AHNAK EXON Silent,Missense_L3678V exm917847 11 62290938 [C/G] NM_024060,NM_001620 AHNAK,AHNAK EXON Silent,Missense_D3651H exm917850 11 62290979 [T/C] NM_024060,NM_001620 AHNAK,AHNAK EXON Silent,Missense_N3637S exm917851 11 62290980 [T/G] NM_024060,NM_001620 AHNAK,AHNAK EXON Silent,Missense_N3637H exm917857 11 62291097 [A/G] NM_024060,NM_001620 AHNAK,AHNAK EXON Silent,Missense_W3598R exm917860 11 62291129 [T/C] NM_024060,NM_001620 AHNAK,AHNAK EXON Silent,Missense_N3587S exm917862 11 62291226 [T/G] NM_024060,NM_001620 AHNAK,AHNAK EXON Silent,Missense_P3555T exm917864 11 62291300 [T/C] NM_024060,NM_001620 AHNAK,AHNAK EXON Silent,Missense_K3530R exm917865 11 62291307 [T/C] NM_024060,NM_001620 AHNAK,AHNAK EXON Silent,Missense_G3528S exm917867 11 62291354 [A/G] NM_024060,NM_001620 AHNAK,AHNAK EXON Silent,Missense_I3512T exm917870 11 62291459 [A/C] NM_024060,NM_001620 AHNAK,AHNAK EXON Silent,Missense_M3477R exm917874 11 62291531 [A/G] NM_024060,NM_001620 AHNAK,AHNAK EXON Silent,Missense_A3453V exm917875 11 62291585 [A/G] NM_024060,NM_001620 AHNAK,AHNAK EXON Silent,Missense_I3435T exm917879 11 62291756 [A/G] NM_024060,NM_001620 AHNAK,AHNAK EXON Silent,Missense_I3378T exm917889 11 62291912 [T/C] NM_024060,NM_001620 AHNAK,AHNAK EXON Silent,Missense_S3326N exm917893 11 62291953 [T/A] NM_024060,NM_001620 AHNAK,AHNAK EXON Silent,Missense_D3312E exm917896 11 62292003 [A/G] NM_024060,NM_001620 AHNAK,AHNAK EXON Silent,Missense_P3296S exm917904 11 62292156 [T/C] NM_024060,NM_001620 AHNAK,AHNAK EXON Silent,Missense_E3245K exm917907 11 62292213 [A/G] NM_024060,NM_001620 AHNAK,AHNAK EXON Silent,Missense_L3226F exm917908 11 62292228 [T/C] NM_024060,NM_001620 AHNAK,AHNAK EXON Silent,Missense_M3221V exm917911 11 62292254 [A/G] NM_024060,NM_001620 AHNAK,AHNAK EXON Silent,Missense_M3212T exm917925 11 62292492 [T/C] NM_024060,NM_001620 AHNAK,AHNAK EXON Silent,Missense_D3133N exm917929 11 62292530 [A/G] NM_024060,NM_001620 AHNAK,AHNAK EXON Silent,Missense_M3120T exm1725134 11 62292863 [A/G] NM_024060,NM_001620 AHNAK,AHNAK EXON Silent,Missense_P3009L exm917943 11 62292882 [T/G] NM_024060,NM_001620 AHNAK,AHNAK EXON Silent,Missense_Q3003K exm917977 11 62293472 [T/C] NM_024060,NM_001620 AHNAK,AHNAK EXON Silent,Missense_C2806Y exm918000 11 62293913 [T/G] NM_024060,NM_001620 AHNAK,AHNAK EXON Silent,Missense_D2659A exm918006 11 62294012 [T/C] NM_024060,NM_001620 AHNAK,AHNAK EXON Silent,Missense_D2626G exm918007 11 62294018 [T/G] NM_024060,NM_001620 AHNAK,AHNAK EXON Silent,Missense_A2624D exm918019 11 62294309 [T/C] NM_024060,NM_001620 AHNAK,AHNAK EXON Silent,Missense_G2527D exm918021 11 62294327 [C/G] NM_024060,NM_001620 AHNAK,AHNAK EXON Silent,Missense_P2521R exm918031 11 62294573 [A/G] NM_024060,NM_001620 AHNAK,AHNAK EXON Silent,Missense_P2439L exm918032 11 62294588 [T/C] NM_024060,NM_001620 AHNAK,AHNAK EXON Silent,Missense_G2434D exm918046 11 62294873 [T/C] NM_024060,NM_001620 AHNAK,AHNAK EXON Silent,Missense_G2339E exm918083 11 62295663 [T/C] NM_024060,NM_001620 AHNAK,AHNAK EXON Silent,Missense_D2076N exm1725161 11 62296126 [A/C] NM_024060,NM_001620 AHNAK,AHNAK EXON Silent,Missense_K1921N exm1725164 11 62296448 [A/T] NM_024060,NM_001620 AHNAK,AHNAK EXON Silent,Missense_Q1814L exm918130 11 62296535 [T/C] NM_024060,NM_001620 AHNAK,AHNAK EXON Silent,Missense_D1785G exm918132 11 62296592 [A/C] NM_024060,NM_001620 AHNAK,AHNAK EXON Silent,Missense_G1766V exm918133 11 62296601 [T/C] NM_024060,NM_001620 AHNAK,AHNAK EXON Silent,Missense_K1763R exm918142 11 62296998 [T/C] NM_024060,NM_001620 AHNAK,AHNAK EXON Silent,Missense_G1631S exm918147 11 62297162 [A/G] NM_024060,NM_001620 AHNAK,AHNAK EXON Silent,Missense_T1576M exm918148 11 62297175 [T/C] NM_024060,NM_001620 AHNAK,AHNAK EXON Silent,Missense_M1572V exm918153 11 62297245 [A/C] NM_024060,NM_001620 AHNAK,AHNAK EXON Silent,Missense_I1548M exm918154 11 62297293 [A/C] NM_024060,NM_001620 AHNAK,AHNAK EXON Silent,Missense_M1532I exm918163 11 62297447 [T/C] NM_024060,NM_001620 AHNAK,AHNAK EXON Silent,Missense_K1481R exm918164 11 62297462 [A/G] NM_024060,NM_001620 AHNAK,AHNAK EXON Silent,Missense_V1476A exm918165 11 62297555 [T/C] NM_024060,NM_001620 AHNAK,AHNAK EXON Silent,Missense_S1445N exm918167 11 62297575 [T/G] NM_024060,NM_001620 AHNAK,AHNAK EXON Silent,Missense_K1438N exm918171 11 62297604 [A/C] NM_024060,NM_001620 AHNAK,AHNAK EXON Silent,Missense_G1429C exm1725174 11 62297759 [T/C] NM_024060,NM_001620 AHNAK,AHNAK EXON Silent,Missense_D1377G exm2218996 11 62297816 [T/G] NM_024060,NM_001620 AHNAK,AHNAK EXON Silent,Missense_D1358A exm918180 11 62297835 [T/A] NM_024060,NM_001620 AHNAK,AHNAK EXON Silent,Missense_M1352L exm918181 11 62297870 [T/C] NM_024060,NM_001620 AHNAK,AHNAK EXON Silent,Missense_D1340G exm918207 11 62298509 [A/G] NM_024060,NM_001620 AHNAK,AHNAK EXON Silent,Missense_P1127L exm918208 11 62298597 [A/C] NM_024060,NM_001620 AHNAK,AHNAK EXON Silent,Missense_V1098F exm918209 11 62298621 [A/G] NM_024060,NM_001620 AHNAK,AHNAK EXON Silent,Missense_P1090S exm918213 11 62298700 [T/G] NM_024060,NM_001620 AHNAK,AHNAK EXON Silent,Missense_R1063S exm918214 11 62298701 [T/C] NM_024060,NM_001620 AHNAK,AHNAK EXON Silent,Missense_R1063K exm2274493 11 62299047 [A/T] NM_024060,NM_001620 AHNAK,AHNAK EXON Silent,Missense_M948L exm918227 11 62299074 [A/T] NM_024060,NM_001620 AHNAK,AHNAK EXON Silent,Missense_M939L exm918229 11 62299148 [A/C] NM_024060,NM_001620 AHNAK,AHNAK EXON Silent,Missense_G914V exm918241 11 62299317 [T/C] NM_024060,NM_001620 AHNAK,AHNAK EXON Silent,Missense_K858E exm918266 11 62299943 [A/T] NM_024060,NM_001620 AHNAK,AHNAK EXON Silent,Missense_H649L exm918270 11 62299985 [A/G] NM_024060,NM_001620 AHNAK,AHNAK EXON Silent,Missense_T635M exm918275 11 62300073 [T/C] NM_024060,NM_001620 AHNAK,AHNAK EXON Silent,Missense_R606G exm918284 11 62300280 [T/G] NM_024060,NM_001620 AHNAK,AHNAK EXON Silent,Missense_K537Q exm918291 11 62300441 [A/C] NM_024060,NM_001620 AHNAK,AHNAK EXON Silent,Missense_M483R exm918295 11 62300502 [A/G] NM_024060,NM_001620 AHNAK,AHNAK EXON Silent,Missense_P463S exm918297 11 62300591 [T/C] NM_024060,NM_001620 AHNAK,AHNAK EXON Silent,Missense_K433R exm1725199 11 62300654 [A/C] NM_024060,NM_001620 AHNAK,AHNAK EXON Silent,Missense_S412I exm918298 11 62300657 [A/G] NM_024060,NM_001620 AHNAK,AHNAK EXON Silent,Missense_P411L exm918301 11 62300795 [A/C] NM_024060,NM_001620 AHNAK,AHNAK EXON Silent,Missense_G365V exm918305 11 62300912 [T/C] NM_024060,NM_001620 AHNAK,AHNAK EXON Silent,Missense_K326R exm918310 11 62301024 [T/C] NM_024060,NM_001620 AHNAK,AHNAK EXON Silent,Missense_V289I exm918316 11 62301164 [A/G] NM_024060,NM_001620 AHNAK,AHNAK EXON Silent,Missense_S242L exm918317 11 62301167 [T/C] NM_024060,NM_001620 AHNAK,AHNAK EXON Silent,Missense_H241R exm918322 11 62301254 [A/G] NM_024060,NM_001620 AHNAK,AHNAK EXON Silent,Missense_S212L exm1725206 11 62301444 [A/G] NM_024060,NM_001620 AHNAK,AHNAK EXON Silent,Missense_R149C exm918333 11 62301512 [A/G] NM_024060,NM_001620 AHNAK,AHNAK EXON Silent,Missense_T126I exm2276185 11 62302543 [A/G] NM_024060,NM_001620 AHNAK,AHNAK EXON Missense_R92C,Missense_R92C exm918388 11 62338572 [A/C] NM_001404 EEF1G EXON Missense_E129D exm918398 11 62342678 [A/G] NM_022830 TUT1 EXON Missense_P876L exm918402 11 62342763 [T/C] NM_022830 TUT1 EXON Missense_V848I exm918405 11 62342852 [T/C] NM_022830 TUT1 EXON Missense_R818Q exm918422 11 62343057 [T/C] NM_022830 TUT1 EXON Missense_G750R exm918423 11 62343084 [A/C] NM_022830 TUT1 EXON Missense_W741G exm918443 11 62343519 [A/G] NM_022830 TUT1 EXON Missense_R596W exm1725266 11 62343627 [T/C] NM_022830 TUT1 EXON Missense_V560M exm918459 11 62344666 [A/G] NM_022830 TUT1 EXON Missense_R458W exm918464 11 62344743 [T/C] NM_022830 TUT1 EXON Missense_R432H exm918485 11 62346420 [A/G] NM_022830 TUT1 EXON Missense_P296L exm918508 11 62349170 [T/C] NM_022830 TUT1 EXON Missense_V131M exm918512 11 62356630 [A/G] NM_022830 TUT1 EXON Missense_A87V exm918540 11 62361816 [T/C] NM_004739 MTA2 EXON Missense_S586G exm918548 11 62362465 [T/C] NM_004739 MTA2 EXON Missense_V521I exm918559 11 62362921 [T/C] NM_004739 MTA2 EXON Missense_S433N exm918580 11 62364128 [T/C] NM_004739 MTA2 EXON Missense_N288S exm918583 11 62364262 [T/G] NM_004739 MTA2 EXON Nonsense_Y243X exm918605 11 62366063 [T/C] NM_004739 MTA2 EXON Missense_R80H exm918631 11 62370230 [T/C] NM_153265 EML3 Silent exm918674 11 62374525 [T/C] NM_153265 EML3 EXON Missense_D470G exm918681 11 62375250 [T/C] NM_153265 EML3 EXON Missense_D417G exm918684 11 62375744 [A/C] NM_153265 EML3 EXON Missense_V379L exm918691 11 62376112 [T/C] NM_153265 EML3 EXON Missense_V338M exm918700 11 62376557 [T/C] NM_153265 EML3 EXON Missense_R269H exm918729 11 62378808 [G/C] NM_153265 EML3 EXON Missense_A68G exm918731 11 62378910 [A/G] NM_153265 EML3 EXON Missense_P61S exm918741 11 62380800 [A/G] NM_000327 ROM1 EXON Missense_R16H exm918750 11 62380931 [A/C] NM_000327 ROM1 EXON Missense_P60T exm918756 11 62381021 [A/G] NM_000327 ROM1 EXON Missense_A90T exm918758 11 62381042 [T/C] NM_000327 ROM1 EXON Nonsense_R97X exm918759 11 62381076 [T/C] NM_000327 ROM1 EXON Missense_T108M exm918763 11 62381091 [A/G] NM_000327 ROM1 EXON Missense_G113E exm918767 11 62381106 [C/G] NM_000327 ROM1 EXON Missense_G118A exm918768 11 62381130 [G/C] NM_000327 ROM1 EXON Missense_P126R exm1725434 11 62381175 [T/C] NM_000327 ROM1 EXON Missense_L141S exm918780 11 62381807 [A/G] NM_000327 ROM1 EXON Missense_R223Q exm918785 11 62381842 [A/G] NM_000327 ROM1 EXON Missense_A235T exm1725444 11 62381863 [T/C] NM_000327 ROM1 EXON Nonsense_R242X exm918790 11 62381951 [T/C] NM_000327 ROM1 EXON Missense_M271T exm918798 11 62382195 [A/G] NM_000327 ROM1 EXON Missense_G314R exm918820 11 62384066 [T/G] NM_012200 B3GAT3 EXON Missense_T274N exm918821 11 62384115 [T/C] NM_012200 B3GAT3 EXON Missense_V258M exm918824 11 62384178 [T/C] NM_012200 B3GAT3 EXON Missense_V237M exm918830 11 62384523 [T/C] NM_012200 B3GAT3 EXON Missense_G185E exm918865 11 62393291 [C/G] NM_198334,NM_198335 GANAB,GANAB EXON Missense_R944P,Missense_R966P exm2219004 11 62393382 [A/G] NM_198334,NM_198335 GANAB,GANAB EXON Missense_R914C,Missense_R936C exm918872 11 62393843 [T/C] NM_198334,NM_198335 GANAB,GANAB EXON Missense_R863H,Missense_R885H exm918874 11 62393883 [A/G] NM_198334,NM_198335 GANAB,GANAB EXON Missense_H850Y,Missense_H872Y exm918890 11 62394590 [A/G] NM_198334,NM_198335 GANAB,GANAB EXON Missense_A751V,Missense_A773V exm918894 11 62396248 [T/C] NM_198334,NM_198335 GANAB,GANAB EXON Missense_V725I,Missense_V747I exm2250097 11 62397079 [A/G] NM_198334,NM_198335 GANAB,GANAB EXON Synonymous_F605F,Synonymous_F627F exm918907 11 62397114 [T/C] NM_198334,NM_198335 GANAB,GANAB EXON Missense_M594V,Missense_M616V exm918925 11 62397965 [T/C] NM_198334,NM_198335 GANAB,GANAB EXON Missense_V467I,Missense_V489I exm918929 11 62398200 [T/C] NM_198334,NM_198335 GANAB,GANAB EXON Missense_N420S,Missense_N442S exm1725514 11 62398204 [A/G] NM_198334,NM_198335 GANAB,GANAB EXON Missense_H419Y,Missense_H441Y exm918932 11 62398249 [A/G] NM_198334,NM_198335 GANAB,GANAB EXON Missense_R404W,Missense_R426W exm1725520 11 62398640 [T/C] NM_198334,NM_198335 GANAB,GANAB EXON Missense_M338V,Missense_M360V exm918943 11 62400108 [A/G] NM_198334,NM_198335 GANAB,GANAB EXON Missense_R309C,Missense_R331C exm918946 11 62400116 [T/C] NM_198334,NM_198335 GANAB,GANAB EXON Missense_N306S,Missense_N328S exm918953 11 62400683 [T/G] NM_198334,NM_198335 GANAB,GANAB EXON Missense_K231Q,Missense_K253Q exm918955 11 62400952 [G/C] NM_198334,NM_198335 GANAB,GANAB EXON Missense_A199P,Missense_A221P exm918959 11 62401830 [T/C] NM_198334,NM_198335 GANAB,GANAB EXON Silent,Missense_N193S exm918960 11 62402335 [T/C] NM_198334,NM_198335 GANAB,GANAB EXON Missense_R173Q,Missense_R173Q exm918963 11 62402392 [T/C] NM_198334,NM_198335 GANAB,GANAB EXON Missense_R154Q,Missense_R154Q exm918970 11 62406494 [T/C] NM_198334,NM_198335 GANAB,GANAB EXON Missense_R114H,Missense_R114H exm918977 11 62406860 [T/C] NM_198334,NM_198335 GANAB,GANAB EXON Missense_T75A,Missense_T75A exm918978 11 62406863 [A/G] NM_198334,NM_198335 GANAB,GANAB EXON Missense_L74F,Missense_L74F exm918983 11 62407195 [A/G] NM_198334,NM_198335 GANAB,GANAB EXON Missense_A16V,Missense_A16V exm919002 11 62414862 [A/G] NM_030628 INTS5 EXON Missense_T897M exm919007 11 62414956 [G/C] NM_030628 INTS5 EXON Missense_A866P exm919011 11 62415085 [T/C] NM_030628 INTS5 EXON Missense_D823N exm919017 11 62415270 [A/G] NM_030628 INTS5 EXON Missense_P761L exm919019 11 62415285 [T/C] NM_030628 INTS5 EXON Missense_R756H exm919046 11 62415907 [A/G] NM_030628 INTS5 EXON Missense_L549F exm919052 11 62416063 [T/G] NM_030628 INTS5 EXON Missense_L497I exm919096 11 62417215 [G/C] NM_030628 INTS5 EXON Missense_A113P exm919106 11 62417461 [C/G] NM_030628 INTS5 EXON Missense_L31V exm919143 11 62433898 [A/G] NM_024099,NM_001043229 C11orf48,METTL12 EXON Silent,Missense_R33H exm919144 11 62433912 [T/C] NM_024099,NM_001043229 C11orf48,METTL12 EXON Silent,Missense_R38W exm919150 11 62434053 [A/G] NM_024099,NM_001043229 C11orf48,METTL12 EXON Silent,Missense_G85R exm919152 11 62434097 [A/C] NM_024099,NM_001043229 C11orf48,METTL12 EXON Silent,Missense_H99Q exm919160 11 62434173 [A/G] NM_024099,NM_001043229 C11orf48,METTL12 EXON Silent,Missense_G125S exm919163 11 62434227 [A/G] NM_024099,NM_001043229 C11orf48,METTL12 EXON Silent,Missense_A143T exm919166 11 62434314 [T/G] NM_024099,NM_001043229 C11orf48,METTL12 EXON Silent,Nonsense_G172X exm919170 11 62434383 [T/A] NM_024099,NM_001043229 C11orf48,METTL12 EXON Silent,Missense_I195F exm919186 11 62435055 [A/G] NM_024099 C11orf48 EXON Missense_R160C exm919192 11 62437115 [C/G] NM_024099 C11orf48 EXON Missense_P104R exm919194 11 62437169 [A/G] NM_024099 C11orf48 EXON Missense_T86I exm919198 11 62437362 [A/G] NM_024099 C11orf48 EXON Missense_H48Y exm919199 11 62437395 [T/C] NM_024099 C11orf48 EXON Missense_R37G exm919201 11 62437425 [T/C] NM_024099 C11orf48 EXON Missense_S27G exm919203 11 62437462 [T/C] NM_024099 C11orf48 EXON Nonsense_W14X exm919219 11 62439510 [T/C] NM_001085372 C11orf83 EXON Missense_T69I exm919221 11 62439530 [T/G] NM_001085372 C11orf83 EXON Missense_W76G exm919222 11 62439554 [C/G] NM_001085372 C11orf83 EXON Missense_G84R exm919223 11 62439560 [A/G] NM_001085372 C11orf83 EXON Missense_G86S exm919230 11 62444384 [C/G] NM_015853 UBXN1 EXON Missense_E249Q exm919242 11 62445052 [T/C] NM_015853 UBXN1 EXON Missense_V197I exm919246 11 62445523 [A/G] NM_015853 UBXN1 EXON Missense_R120W exm2274494 11 62445871 [A/G] NM_015853 UBXN1 EXON Missense_S77F exm919260 11 62446021 [A/G] NM_015853 UBXN1 EXON Missense_L56F exm919266 11 62446179 [G/C] NM_015853 UBXN1 EXON Missense_I32M exm919298 11 62457861 [T/C] NM_001122955,NM_001130702,NR_037946,NR_037949,NR_037948,NM_032667 BSCL2,BSCL2,HNRNPUL2-BSCL2,BSCL2,BSCL2,BSCL2 EXON Missense_R456H,Silent,Silent,Silent,Silent,Missense_R392H exm919300 11 62457868 [A/G] NM_001122955,NM_001130702,NR_037946,NR_037949,NR_037948,NM_032667 BSCL2,BSCL2,HNRNPUL2-BSCL2,BSCL2,BSCL2,BSCL2 EXON Nonsense_R454X,Silent,Silent,Silent,Silent,Nonsense_R390X exm919303 11 62457948 [A/G] NM_001122955,NM_001130702,NR_037946,NR_037949,NR_037948,NM_032667 BSCL2,BSCL2,HNRNPUL2-BSCL2,BSCL2,BSCL2,BSCL2 EXON Missense_L427P,Silent,Silent,Silent,Silent,Missense_L363P exm919306 11 62458267 [A/G] NM_001122955,NM_001130702,NR_037946,NR_037949,NR_037948,NM_032667 BSCL2,BSCL2,HNRNPUL2-BSCL2,BSCL2,BSCL2,BSCL2 EXON Missense_S382L,Nonsense_Q271X,Silent,Silent,Silent,Missense_S318L exm919308 11 62458275 [T/C] NM_001122955,NM_001130702,NR_037946,NR_037949,NR_037948,NM_032667 BSCL2,BSCL2,HNRNPUL2-BSCL2,BSCL2,BSCL2,BSCL2 EXON Synonymous_E379E,Missense_K268R,Silent,Silent,Silent,Synonymous_E315E exm919310 11 62458312 [A/G] NM_001122955,NM_001130702,NR_037946,NR_037949,NR_037948,NM_032667 BSCL2,BSCL2,HNRNPUL2-BSCL2,BSCL2,BSCL2,BSCL2 EXON Missense_P367L,Missense_R256C,Silent,Silent,Silent,Missense_P303L exm919319 11 62458765 [T/C] NM_001122955,NM_001130702,NR_037946,NR_037949,NR_037948,NM_032667 BSCL2,BSCL2,HNRNPUL2-BSCL2,BSCL2,BSCL2,BSCL2 EXON Missense_R331H,Silent,Silent,Silent,Silent,Missense_R267H exm919328 11 62459866 [A/G] NM_001122955,NM_001130702,NR_037946,NR_037949,NR_037948,NM_032667 BSCL2,BSCL2,HNRNPUL2-BSCL2,BSCL2,BSCL2,BSCL2 EXON Missense_A282V,Missense_A218V,Silent,Silent,Silent,Missense_A218V exm919329 11 62459867 [T/C] NM_001122955,NM_001130702,NR_037946,NR_037949,NR_037948,NM_032667 BSCL2,BSCL2,HNRNPUL2-BSCL2,BSCL2,BSCL2,BSCL2 EXON Missense_A282T,Missense_A218T,Silent,Silent,Silent,Missense_A218T exm919333 11 62459926 [A/G] NM_001122955,NM_001130702,NR_037946,NR_037949,NR_037948,NM_032667 BSCL2,BSCL2,HNRNPUL2-BSCL2,BSCL2,BSCL2,BSCL2 EXON Missense_A262V,Missense_A198V,Silent,Silent,Silent,Missense_A198V exm919335 11 62460155 [T/C] NM_001122955,NM_001130702,NR_037946,NR_037949,NR_037948,NM_032667 BSCL2,BSCL2,HNRNPUL2-BSCL2,BSCL2,BSCL2,BSCL2 EXON Missense_A249T,Missense_A185T,Silent,Silent,Silent,Missense_A185T exm919347 11 62469978 [T/C] NM_001122955,NM_001130702,NR_037946,NR_037949,NR_037948,NM_032667 BSCL2,BSCL2,HNRNPUL2-BSCL2,BSCL2,BSCL2,BSCL2 EXON Missense_V150I,Missense_V86I,Silent,Silent,Silent,Missense_V86I exm2219022 11 62473044 [T/C] NM_001122955,NM_001130702,NR_037946,NR_037949,NR_037948,NM_032667 BSCL2,BSCL2,HNRNPUL2-BSCL2,BSCL2,BSCL2,BSCL2 EXON Missense_G45S,Silent,Silent,Silent,Silent,Silent exm919356 11 62473053 [A/G] NM_001122955,NM_001130702,NR_037946,NR_037949,NR_037948,NM_032667 BSCL2,BSCL2,HNRNPUL2-BSCL2,BSCL2,BSCL2,BSCL2 EXON Missense_R42C,Silent,Silent,Silent,Silent,Silent exm919360 11 62474608 [G/C] NM_001122955,NR_037946,NR_037949,NR_037948 BSCL2,HNRNPUL2-BSCL2,BSCL2,BSCL2 EXON Missense_D20E,Silent,Silent,Silent exm919368 11 62482979 [T/C] NR_037946,NM_001079559 HNRNPUL2-BSCL2,HNRNPUL2 EXON Silent,Missense_N719S exm919374 11 62483342 [G/C] NR_037946,NM_001079559 HNRNPUL2-BSCL2,HNRNPUL2 EXON Silent,Missense_N683K exm919401 11 62489629 [A/G] NR_037946,NM_001079559 HNRNPUL2-BSCL2,HNRNPUL2 EXON Silent,Missense_V440A exm2250100 11 62489712 [T/C] NR_037946,NM_001079559 HNRNPUL2-BSCL2,HNRNPUL2 EXON Silent,Synonymous_L412L exm919429 11 62494144 [T/C] NR_037946,NM_001079559 HNRNPUL2-BSCL2,HNRNPUL2 EXON Silent,Missense_G162E exm919454 11 62496390 [T/C] NM_173810 TTC9C EXON Missense_Y24H exm1725760 11 62519876 [T/C] NM_024784 ZBTB3 EXON Missense_V471I exm919492 11 62519924 [A/C] NM_024784 ZBTB3 EXON Missense_S455A exm919496 11 62520070 [T/C] NM_024784 ZBTB3 EXON Missense_E406G exm919500 11 62520170 [A/G] NM_024784 ZBTB3 EXON Missense_P373S exm919507 11 62520307 [A/G] NM_024784 ZBTB3 EXON Missense_A327V exm919508 11 62520308 [T/C] NM_024784 ZBTB3 EXON Missense_A327T exm919512 11 62520366 [G/C] NM_024784 ZBTB3 EXON Missense_R307S exm919515 11 62520514 [T/C] NM_024784 ZBTB3 EXON Missense_R258Q exm919517 11 62520535 [T/C] NM_024784 ZBTB3 EXON Missense_E251G exm2219029 11 62520538 [A/G] NM_024784 ZBTB3 EXON Missense_M250T exm919533 11 62520971 [A/G] NM_024784 ZBTB3 EXON Missense_R106W exm919535 11 62521139 [T/A] NM_024784 ZBTB3 EXON Missense_T50S exm919578 11 62543326 [T/C] NM_006473 TAF6L EXON Missense_T24M exm919612 11 62549652 [A/G] NM_006473 TAF6L EXON Missense_R225H exm919647 11 62554113 [C/G] NM_006473 TAF6L EXON Missense_S405W exm919681 11 62556577 [T/C] NM_199337 TMEM179B EXON Missense_P60L exm919698 11 62557476 [G/C] NM_199337 TMEM179B EXON Missense_S206C exm919700 11 62557502 [T/C] NM_199337 TMEM179B EXON Missense_R215C exm919723 11 62559301 [T/C] NM_001080501 TMEM223 EXON Missense_G56S exm919725 11 62559351 [T/C] NM_001080501 TMEM223 EXON Missense_H39R exm919726 11 62559375 [T/C] NM_001080501 TMEM223 EXON Missense_Q31R exm919728 11 62559384 [T/G] NM_001080501 TMEM223 EXON Missense_T28K exm919729 11 62559385 [T/C] NM_001080501 TMEM223 EXON Missense_T28A exm919731 11 62559405 [A/G] NM_001080501 TMEM223 EXON Missense_T21I exm919762 11 62563587 [T/C] NM_006362,NM_001081491 NXF1,NXF1 EXON Missense_K471R,Silent exm919796 11 62569103 [C/G] NM_006362,NM_001081491 NXF1,NXF1 EXON Missense_L214V,Missense_L214V exm919817 11 62571313 [T/C] NM_006362,NM_001081491 NXF1,NXF1 EXON Missense_D56N,Missense_D56N exm919848 11 62591966 [A/G] NM_003164,NM_001244666 STX5,STX5 EXON Missense_R251W,Missense_R251W exm2250102 11 62591982 [A/G] NM_003164,NM_001244666 STX5,STX5 EXON Synonymous_I245I,Synonymous_I245I exm919858 11 62592789 [T/C] NM_003164,NM_001244666 STX5,STX5 EXON Missense_N188S,Missense_N188S exm919863 11 62592966 [T/C] NM_003164,NM_001244666 STX5,STX5 EXON Missense_V157M,Missense_V157M exm919869 11 62594689 [A/G] NM_003164,NM_001244666 STX5,STX5 EXON Missense_R121C,Missense_R121C exm919872 11 62594845 [A/T] NM_003164,NM_001244666 STX5,STX5 EXON Missense_T108S,Missense_T108S exm919873 11 62594869 [A/G] NM_003164,NM_001244666 STX5,STX5 EXON Missense_R100C,Missense_R100C exm919877 11 62598495 [C/G] NM_003164,NM_001244666 STX5,STX5 EXON Missense_R74P,Missense_R74P exm919887 11 62600485 [A/G] NM_018093 WDR74 EXON Missense_P366L exm1725965 11 62600554 [A/G] NM_018093 WDR74 EXON Missense_T343I exm919895 11 62601278 [T/C] NM_018093 WDR74 EXON Missense_G303S exm919901 11 62601747 [T/C] NM_018093 WDR74 Silent exm919902 11 62601751 [A/G] NM_018093 WDR74 EXON Nonsense_Q258X exm919910 11 62602932 [T/C] NM_018093 WDR74 EXON Missense_K197E exm919923 11 62606594 [G/C] NM_018093 WDR74 EXON Missense_Q95H exm919931 11 62606707 [T/C] NM_018093 WDR74 EXON Missense_M58V exm2250103 11 62607022 [C/G] NM_018093 WDR74 EXON Synonymous_R7R exm919939 11 62607022 [C/G] NM_018093 WDR74 EXON Synonymous_R7R exm919969 11 62623775 [T/G] NM_002394,NM_001012662,NM_001012664 SLC3A2,SLC3A2,SLC3A2 EXON Missense_V12F,Missense_V12F,Missense_V12F exm919993 11 62649421 [T/G] NM_002394,NM_001012662,NM_001012664,NM_001013251,NR_037193 SLC3A2,SLC3A2,SLC3A2,SLC3A2,SLC3A2 EXON Missense_G262C,Missense_G263C,Missense_G200C,Missense_G161C,Silent exm919994 11 62649427 [A/G] NM_002394,NM_001012662,NM_001012664,NM_001013251,NR_037193 SLC3A2,SLC3A2,SLC3A2,SLC3A2,SLC3A2 EXON Missense_I264V,Missense_I265V,Missense_I202V,Missense_I163V,Silent exm919995 11 62649463 [A/G] NM_002394,NM_001012662,NM_001012664,NM_001013251,NR_037193 SLC3A2,SLC3A2,SLC3A2,SLC3A2,SLC3A2 EXON Missense_D276N,Missense_D277N,Missense_D214N,Missense_D175N,Silent exm920022 11 62652950 [T/G] NM_002394,NM_001012662,NM_001012664,NM_001013251,NR_037193 SLC3A2,SLC3A2,SLC3A2,SLC3A2,SLC3A2 EXON Missense_R439M,Missense_R440M,Missense_R377M,Missense_R338M,Silent exm920023 11 62652973 [A/G] NM_002394,NM_001012662,NM_001012664,NM_001013251,NR_037193 SLC3A2,SLC3A2,SLC3A2,SLC3A2,SLC3A2 EXON Missense_A447T,Missense_A448T,Missense_A385T,Missense_A346T,Silent exm1726084 11 62652986 [A/G] NM_002394,NM_001012662,NM_001012664,NM_001013251,NR_037193 SLC3A2,SLC3A2,SLC3A2,SLC3A2,SLC3A2 EXON Missense_R451Q,Missense_R452Q,Missense_R389Q,Missense_R350Q,Silent exm920030 11 62655818 [T/C] NM_002394,NM_001012662,NM_001012664,NM_001013251,NR_037193 SLC3A2,SLC3A2,SLC3A2,SLC3A2,SLC3A2 EXON Missense_P516S,Missense_P517S,Missense_P454S,Missense_P415S,Silent exm920036 11 62655900 [T/C] NM_002394,NM_001012662,NM_001012664,NM_001013251,NR_037193 SLC3A2,SLC3A2,SLC3A2,SLC3A2,SLC3A2 EXON Missense_A543V,Missense_A544V,Missense_A481V,Missense_A442V,Silent exm920039 11 62655908 [A/G] NM_002394,NM_001012662,NM_001012664,NM_001013251,NR_037193 SLC3A2,SLC3A2,SLC3A2,SLC3A2,SLC3A2 EXON Missense_A546T,Missense_A547T,Missense_A484T,Missense_A445T,Silent exm920040 11 62655957 [A/G] NM_002394,NM_001012662,NM_001012664,NM_001013251,NR_037193 SLC3A2,SLC3A2,SLC3A2,SLC3A2,SLC3A2 EXON Missense_R562H,Missense_R563H,Missense_R500H,Missense_R461H,Silent exm920045 11 62656022 [T/C] NM_002394,NM_001012662,NM_001012664,NM_001013251,NR_037193 SLC3A2,SLC3A2,SLC3A2,SLC3A2,SLC3A2 EXON Missense_P584S,Missense_P585S,Missense_P522S,Missense_P483S,Silent exm2250104 11 62677352 [A/G] NM_000738 CHRM1 EXON Synonymous_C407C exm2271512 11 62712229 [T/C] exm920101 11 62744339 [A/G] NM_004790,NM_153277,NM_153278,NM_153276 SLC22A6,SLC22A6,SLC22A6,SLC22A6 EXON Missense_T540M,Missense_T483M,Missense_T496M,Missense_T527M exm920109 11 62744798 [A/C] NM_004790,NM_153277,NM_153278,NM_153276 SLC22A6,SLC22A6,SLC22A6,SLC22A6 EXON Missense_V475L,Silent,Silent,Missense_V475L exm920133 11 62748795 [A/C] NM_004790,NM_153277,NM_153278,NM_153276 SLC22A6,SLC22A6,SLC22A6,SLC22A6 EXON Missense_R286S,Missense_R286S,Missense_R286S,Missense_R286S exm920139 11 62751069 [T/C] NM_004790,NM_153277,NM_153278,NM_153276 SLC22A6,SLC22A6,SLC22A6,SLC22A6 EXON Missense_A190T,Missense_A190T,Missense_A190T,Missense_A190T exm920149 11 62751957 [T/C] NM_004790,NM_153277,NM_153278,NM_153276 SLC22A6,SLC22A6,SLC22A6,SLC22A6 EXON Missense_R69Q,Missense_R69Q,Missense_R69Q,Missense_R69Q exm920155 11 62752003 [T/C] NM_004790,NM_153277,NM_153278,NM_153276 SLC22A6,SLC22A6,SLC22A6,SLC22A6 EXON Missense_D54N,Missense_D54N,Missense_D54N,Missense_D54N exm920157 11 62752014 [T/C] NM_004790,NM_153277,NM_153278,NM_153276 SLC22A6,SLC22A6,SLC22A6,SLC22A6 EXON Missense_R50H,Missense_R50H,Missense_R50H,Missense_R50H exm920169 11 62760800 [T/C] NM_001184733,NM_004254,NM_001184732,NM_001184736 SLC22A8,SLC22A8,SLC22A8,SLC22A8 EXON Missense_R422Q,Missense_R513Q,Missense_R513Q,Missense_R390Q exm920178 11 62761083 [T/C] NM_001184733,NM_004254,NM_001184732,NM_001184736 SLC22A8,SLC22A8,SLC22A8,SLC22A8 EXON Missense_V357I,Missense_V448I,Missense_V448I,Missense_V325I exm920185 11 62762124 [A/G] NM_001184733,NM_004254,NM_001184732,NM_001184736 SLC22A8,SLC22A8,SLC22A8,SLC22A8 EXON Missense_A278V,Missense_A369V,Missense_A369V,Missense_A246V exm920205 11 62763264 [A/T] NM_001184733,NM_004254,NM_001184732,NM_001184736 SLC22A8,SLC22A8,SLC22A8,SLC22A8 EXON Missense_I214F,Missense_I305F,Missense_I305F,Missense_I182F exm920220 11 62766475 [T/C] NM_001184733,NM_004254,NM_001184732,NM_001184736 SLC22A8,SLC22A8,SLC22A8,SLC22A8 EXON Missense_G136S,Missense_G227S,Missense_G227S,Missense_G104S exm920223 11 62766520 [T/C] NM_001184733,NM_004254,NM_001184732,NM_001184736 SLC22A8,SLC22A8,SLC22A8,SLC22A8 EXON Missense_T121A,Missense_T212A,Missense_T212A,Missense_T89A exm920226 11 62766540 [T/C] NM_001184733,NM_004254,NM_001184732,NM_001184736 SLC22A8,SLC22A8,SLC22A8,SLC22A8 EXON Missense_R114Q,Missense_R205Q,Missense_R205Q,Missense_R82Q exm920228 11 62766561 [A/T] NM_001184733,NM_004254,NM_001184732,NM_001184736 SLC22A8,SLC22A8,SLC22A8,SLC22A8 EXON Missense_N107I,Missense_N198I,Missense_N198I,Missense_N75I exm920231 11 62767214 [A/G] NM_001184733,NM_004254,NM_001184732,NM_001184736 SLC22A8,SLC22A8,SLC22A8,SLC22A8 EXON Missense_R89C,Missense_R180C,Missense_R180C,Missense_R57C exm920232 11 62767231 [A/G] NM_001184733,NM_004254,NM_001184732,NM_001184736 SLC22A8,SLC22A8,SLC22A8,SLC22A8 EXON Missense_P83L,Missense_P174L,Missense_P174L,Missense_P51L exm2271615 11 62771582 [T/G] NM_001184733,NM_004254,NM_001184732,NM_001184736 SLC22A8,SLC22A8,SLC22A8,SLC22A8 Silent,Silent,Silent,Silent exm1726268 11 62782258 [T/C] NM_001184733,NM_004254,NM_001184732,NM_001184736 SLC22A8,SLC22A8,SLC22A8,SLC22A8 EXON Silent,Missense_G58E,Missense_G58E,Silent exm920248 11 62782405 [T/C] NM_001184733,NM_004254,NM_001184732,NM_001184736 SLC22A8,SLC22A8,SLC22A8,SLC22A8 EXON Silent,Missense_R9H,Missense_R9H,Silent exm920253 11 62847453 [T/C] NM_001136506 SLC22A24 EXON Missense_I540V exm920257 11 62848487 [A/C] NM_001136506 SLC22A24 EXON Nonsense_Y501X exm920265 11 62850775 [A/G] NM_001136506 SLC22A24 EXON Nonsense_Q409X exm920273 11 62863518 [A/G] NM_001136506 SLC22A24 EXON Missense_S339P exm920281 11 62871723 [T/C] NM_001136506 SLC22A24 EXON Missense_D293G exm920288 11 62886706 [T/C] NM_001136506 SLC22A24 EXON Missense_R203H exm920292 11 62886800 [G/C] NM_001136506 SLC22A24 EXON Missense_R172G exm920295 11 62910849 [T/C] NM_001136506 SLC22A24 Silent exm920298 11 62910878 [T/C] NM_001136506 SLC22A24 EXON Missense_S125N exm2219045 11 62910885 [T/C] NM_001136506 SLC22A24 EXON Missense_D123N exm920300 11 62910891 [A/C] NM_001136506 SLC22A24 EXON Missense_V121L exm920303 11 62910984 [T/G] NM_001136506 SLC22A24 EXON Missense_R90S exm920305 11 62911079 [G/C] NM_001136506 SLC22A24 EXON Missense_T58S exm920310 11 62911224 [T/C] NM_001136506 SLC22A24 EXON Missense_V10M exm920324 11 62931484 [T/C] NM_199352 SLC22A25 EXON Missense_M486V exm920327 11 62931547 [T/C] NM_199352 SLC22A25 Silent exm2219050 11 62932004 [A/G] NM_199352 SLC22A25 EXON Missense_I463T exm920329 11 62932049 [C/G] NM_199352 SLC22A25 EXON Missense_G448A exm920333 11 62932091 [T/C] NM_199352 SLC22A25 EXON Missense_R434H exm920342 11 62933585 [A/G] NM_199352 SLC22A25 EXON Nonsense_R406X exm920354 11 62948130 [A/G] NM_199352 SLC22A25 Silent exm920357 11 62948178 [A/G] NM_199352 SLC22A25 EXON Missense_R342C exm920362 11 62948219 [A/G] NM_199352 SLC22A25 EXON Missense_L328P exm920365 11 62951221 [C/G] NM_199352 SLC22A25 EXON Missense_R300T exm1726333 11 62951228 [C/G] NM_199352 SLC22A25 EXON Missense_E298Q exm920372 11 62984811 [A/G] NM_199352 SLC22A25 EXON Missense_C269R exm920373 11 62984819 [G/C] NM_199352 SLC22A25 EXON Missense_S266C exm920375 11 62984850 [A/G] NM_199352 SLC22A25 EXON Nonsense_R256X exm920376 11 62984868 [T/C] NM_199352 SLC22A25 EXON Missense_S250G exm920380 11 62985083 [A/G] NM_199352 SLC22A25 EXON Missense_F211L exm920381 11 62985088 [A/G] NM_199352 SLC22A25 EXON Missense_A209V exm920383 11 62985106 [T/C] NM_199352 SLC22A25 EXON Missense_R203H exm920386 11 62985145 [A/G] NM_199352 SLC22A25 EXON Missense_A190V exm2250109 11 62985171 [A/G] NM_199352 SLC22A25 EXON Synonymous_L181L exm2250110 11 62987767 [A/G] NM_199352 SLC22A25 Silent exm920401 11 62996038 [T/C] NM_199352 SLC22A25 Silent exm920409 11 62996860 [A/G] NM_199352 SLC22A25 EXON Missense_R89C exm920410 11 62996865 [T/A] NM_199352 SLC22A25 EXON Missense_K87M exm920418 11 62997031 [A/G] NM_199352 SLC22A25 EXON Missense_Y32H exm920427 11 63057658 [C/G] NR_037451,NR_049833,NM_001039752 MIR3680-1,MIR3680-2,SLC22A10 EXON Silent,Silent,Missense_L7F exm920429 11 63057666 [T/C] NR_037451,NR_049833,NM_001039752 MIR3680-1,MIR3680-2,SLC22A10 EXON Silent,Silent,Missense_V10A exm1726378 11 63057846 [A/G] NR_037451,NR_049833,NM_001039752 MIR3680-1,MIR3680-2,SLC22A10 EXON Silent,Silent,Missense_D70G exm920442 11 63057903 [A/G] NR_037451,NR_049833,NM_001039752 MIR3680-1,MIR3680-2,SLC22A10 EXON Silent,Silent,Missense_R89H exm920444 11 63057925 [A/G] NR_037451,NR_049833,NM_001039752 MIR3680-1,MIR3680-2,SLC22A10 EXON Silent,Silent,Nonsense_W96X exm920449 11 63059011 [C/G] NR_037451,NR_049833,NM_001039752 MIR3680-1,MIR3680-2,SLC22A10 Silent,Silent,Silent exm920453 11 63064782 [T/C] NR_037451,NR_049833,NM_001039752 MIR3680-1,MIR3680-2,SLC22A10 EXON Silent,Silent,Nonsense_R172X exm920454 11 63064783 [A/G] NR_037451,NR_049833,NM_001039752 MIR3680-1,MIR3680-2,SLC22A10 EXON Silent,Silent,Missense_R172Q exm920459 11 63064845 [A/G] NR_037451,NR_049833,NM_001039752 MIR3680-1,MIR3680-2,SLC22A10 EXON Silent,Silent,Missense_A193T exm920461 11 63064875 [T/C] NR_037451,NR_049833,NM_001039752 MIR3680-1,MIR3680-2,SLC22A10 EXON Silent,Silent,Missense_R203C exm920462 11 63064887 [T/G] NR_037451,NR_049833,NM_001039752 MIR3680-1,MIR3680-2,SLC22A10 EXON Silent,Silent,Missense_G207C exm920463 11 63064894 [A/C] NR_037451,NR_049833,NM_001039752 MIR3680-1,MIR3680-2,SLC22A10 EXON Silent,Silent,Missense_S209Y exm920472 11 63065124 [T/C] NR_037451,NR_049833,NM_001039752 MIR3680-1,MIR3680-2,SLC22A10 EXON Silent,Silent,Missense_A252V exm920473 11 63065135 [T/C] NR_037451,NR_049833,NM_001039752 MIR3680-1,MIR3680-2,SLC22A10 EXON Silent,Silent,Nonsense_R256X exm920474 11 63065136 [A/G] NR_037451,NR_049833,NM_001039752 MIR3680-1,MIR3680-2,SLC22A10 EXON Silent,Silent,Missense_R256Q exm920476 11 63065156 [A/G] NR_037451,NR_049833,NM_001039752 MIR3680-1,MIR3680-2,SLC22A10 EXON Silent,Silent,Missense_V263M exm920483 11 63066444 [C/G] NR_037451,NR_049833,NM_001039752 MIR3680-1,MIR3680-2,SLC22A10 EXON Silent,Silent,Missense_G295R exm920485 11 63066472 [A/G] NR_037451,NR_049833,NM_001039752 MIR3680-1,MIR3680-2,SLC22A10 EXON Silent,Silent,Missense_R304H exm1726393 11 63067061 [T/C] NR_037451,NR_049833,NM_001039752 MIR3680-1,MIR3680-2,SLC22A10 EXON Silent,Silent,Missense_P344S exm920497 11 63069884 [A/G] NR_037451,NR_049833,NM_001039752 MIR3680-1,MIR3680-2,SLC22A10 EXON Silent,Silent,Missense_Y385C exm920498 11 63069895 [A/G] NR_037451,NR_049833,NM_001039752 MIR3680-1,MIR3680-2,SLC22A10 EXON Silent,Silent,Missense_A389T exm920504 11 63069947 [A/G] NR_037451,NR_049833,NM_001039752 MIR3680-1,MIR3680-2,SLC22A10 EXON Silent,Silent,Missense_R406Q exm920509 11 63071595 [A/G] NR_037451,NR_049833,NM_001039752 MIR3680-1,MIR3680-2,SLC22A10 EXON Silent,Silent,Missense_R434H exm920511 11 63071621 [A/G] NR_037451,NR_049833,NM_001039752 MIR3680-1,MIR3680-2,SLC22A10 EXON Silent,Silent,Missense_G443S exm920514 11 63072184 [T/C] NR_037451,NR_049833,NM_001039752 MIR3680-1,MIR3680-2,SLC22A10 EXON Silent,Silent,Missense_T474M exm920516 11 63072190 [A/G] NR_037451,NR_049833,NM_001039752 MIR3680-1,MIR3680-2,SLC22A10 EXON Silent,Silent,Missense_S476N exm920518 11 63072196 [T/C] NR_037451,NR_049833,NM_001039752 MIR3680-1,MIR3680-2,SLC22A10 EXON Silent,Silent,Missense_I478T exm920519 11 63072226 [A/C] NR_037451,NR_049833,NM_001039752 MIR3680-1,MIR3680-2,SLC22A10 EXON Silent,Silent,Missense_T488N exm920520 11 63072232 [T/C] NR_037451,NR_049833,NM_001039752 MIR3680-1,MIR3680-2,SLC22A10 EXON Silent,Silent,Missense_T490M exm920523 11 63072310 [T/C] NR_037451,NR_049833,NM_001039752 MIR3680-1,MIR3680-2,SLC22A10 EXON Silent,Silent,Missense_P516L exm920525 11 63072327 [T/C] NR_037451,NR_049833,NM_001039752 MIR3680-1,MIR3680-2,SLC22A10 EXON Silent,Silent,Missense_P522S exm920540 11 63137767 [A/G] NR_037451,NR_049833,NM_080866 MIR3680-1,MIR3680-2,SLC22A9 EXON Silent,Silent,Missense_D80G exm920544 11 63137797 [A/G] NR_037451,NR_049833,NM_080866 MIR3680-1,MIR3680-2,SLC22A9 EXON Silent,Silent,Missense_R90H exm920554 11 63138694 [A/G] NR_037451,NR_049833,NM_080866 MIR3680-1,MIR3680-2,SLC22A9 EXON Silent,Silent,Missense_G164S exm920556 11 63141131 [C/G] NR_037451,NR_049833,NM_080866 MIR3680-1,MIR3680-2,SLC22A9 EXON Silent,Silent,Missense_F174L exm1726437 11 63141180 [C/G] NR_037451,NR_049833,NM_080866 MIR3680-1,MIR3680-2,SLC22A9 EXON Silent,Silent,Missense_A191P exm920572 11 63141435 [T/C] NR_037451,NR_049833,NM_080866 MIR3680-1,MIR3680-2,SLC22A9 EXON Silent,Silent,Missense_A244V exm920573 11 63141443 [A/T] NR_037451,NR_049833,NM_080866 MIR3680-1,MIR3680-2,SLC22A9 EXON Silent,Silent,Missense_T247S exm920575 11 63141471 [A/G] NR_037451,NR_049833,NM_080866 MIR3680-1,MIR3680-2,SLC22A9 EXON Silent,Silent,Missense_R256Q exm920579 11 63143137 [A/G] NR_037451,NR_049833,NM_080866 MIR3680-1,MIR3680-2,SLC22A9 EXON Silent,Silent,Missense_R284Q exm920580 11 63143153 [A/C] NR_037451,NR_049833,NM_080866 MIR3680-1,MIR3680-2,SLC22A9 EXON Silent,Silent,Missense_N289K exm920582 11 63143227 [A/C] NR_037451,NR_049833,NM_080866 MIR3680-1,MIR3680-2,SLC22A9 EXON Silent,Silent,Missense_T314N exm920585 11 63149670 [A/C] NR_037451,NR_049833,NM_080866 MIR3680-1,MIR3680-2,SLC22A9 EXON Silent,Silent,Missense_Q332K exm920591 11 63149746 [T/C] NR_037451,NR_049833,NM_080866 MIR3680-1,MIR3680-2,SLC22A9 EXON Silent,Silent,Missense_T357M exm920593 11 63173982 [A/G] NR_037451,NR_049833,NM_080866 MIR3680-1,MIR3680-2,SLC22A9 EXON Silent,Silent,Missense_M363V exm920594 11 63174033 [T/G] NR_037451,NR_049833,NM_080866 MIR3680-1,MIR3680-2,SLC22A9 EXON Silent,Silent,Missense_F380V exm920597 11 63174102 [T/C] NR_037451,NR_049833,NM_080866 MIR3680-1,MIR3680-2,SLC22A9 EXON Silent,Silent,Missense_Y403H exm920601 11 63175593 [T/C] NR_037451,NR_049833,NM_080866 MIR3680-1,MIR3680-2,SLC22A9 EXON Silent,Silent,Missense_T433M exm920603 11 63175599 [A/G] NR_037451,NR_049833,NM_080866 MIR3680-1,MIR3680-2,SLC22A9 EXON Silent,Silent,Missense_R435H exm920609 11 63175663 [A/T] NR_037451,NR_049833,NM_080866 MIR3680-1,MIR3680-2,SLC22A9 EXON Silent,Silent,Missense_H456Q exm920610 11 63175679 [A/C] NR_037451,NR_049833,NM_080866 MIR3680-1,MIR3680-2,SLC22A9 EXON Silent,Silent,Missense_P462T exm920613 11 63176187 [A/G] NR_037451,NR_049833,NM_080866 MIR3680-1,MIR3680-2,SLC22A9 EXON Silent,Silent,Missense_I479M exm920619 11 63176294 [T/G] NR_037451,NR_049833,NM_080866 MIR3680-1,MIR3680-2,SLC22A9 EXON Silent,Silent,Missense_L515R exm920628 11 63177324 [T/C] NR_037451,NR_049833,NM_080866 MIR3680-1,MIR3680-2,SLC22A9 EXON Silent,Silent,Missense_T551M exm920632 11 63231007 [C/G] NR_037451,NR_049833,NM_054108,NM_001146728,NM_001146729 MIR3680-1,MIR3680-2,HRASLS5,HRASLS5,HRASLS5 EXON Silent,Silent,Missense_D270H,Missense_G253A,Missense_D260H exm920635 11 63231022 [T/C] NR_037451,NR_049833,NM_054108,NM_001146728,NM_001146729 MIR3680-1,MIR3680-2,HRASLS5,HRASLS5,HRASLS5 EXON Silent,Silent,Missense_I265V,Missense_Y248C,Missense_I255V exm920637 11 63231042 [A/G] NR_037451,NR_049833,NM_054108,NM_001146728,NM_001146729 MIR3680-1,MIR3680-2,HRASLS5,HRASLS5,HRASLS5 EXON Silent,Silent,Missense_A258V,Synonymous_S241S,Missense_A248V exm920641 11 63233599 [T/C] NR_037451,NR_049833,NM_054108,NM_001146728,NM_001146729 MIR3680-1,MIR3680-2,HRASLS5,HRASLS5,HRASLS5 EXON Silent,Silent,Missense_V244I,Silent,Missense_V234I exm920644 11 63233659 [T/C] NR_037451,NR_049833,NM_054108,NM_001146728,NM_001146729 MIR3680-1,MIR3680-2,HRASLS5,HRASLS5,HRASLS5 EXON Silent,Silent,Missense_V224M,Missense_V224M,Missense_V214M exm920647 11 63233688 [T/C] NR_037451,NR_049833,NM_054108,NM_001146728,NM_001146729 MIR3680-1,MIR3680-2,HRASLS5,HRASLS5,HRASLS5 EXON Silent,Silent,Missense_Q214R,Missense_Q214R,Missense_Q204R exm920651 11 63233721 [A/G] NR_037451,NR_049833,NM_054108,NM_001146728,NM_001146729 MIR3680-1,MIR3680-2,HRASLS5,HRASLS5,HRASLS5 EXON Silent,Silent,Missense_T203M,Missense_T203M,Missense_T193M exm920653 11 63233779 [A/G] NR_037451,NR_049833,NM_054108,NM_001146728,NM_001146729 MIR3680-1,MIR3680-2,HRASLS5,HRASLS5,HRASLS5 EXON Silent,Silent,Missense_R184C,Missense_R184C,Missense_R174C exm920655 11 63233800 [A/G] NR_037451,NR_049833,NM_054108,NM_001146728,NM_001146729 MIR3680-1,MIR3680-2,HRASLS5,HRASLS5,HRASLS5 EXON Silent,Silent,Missense_R177W,Missense_R177W,Missense_R167W exm920661 11 63235885 [T/C] NR_037451,NR_049833,NM_054108,NM_001146728,NM_001146729 MIR3680-1,MIR3680-2,HRASLS5,HRASLS5,HRASLS5 EXON Silent,Silent,Missense_Y143C,Missense_Y143C,Missense_Y133C exm920665 11 63256441 [G/C] NR_037451,NR_049833,NM_054108,NM_001146728,NM_001146729 MIR3680-1,MIR3680-2,HRASLS5,HRASLS5,HRASLS5 EXON Silent,Silent,Missense_A93P,Missense_A93P,Missense_A83P exm920671 11 63257820 [A/G] NR_037451,NR_049833,NM_054108,NM_001146728,NM_001146729 MIR3680-1,MIR3680-2,HRASLS5,HRASLS5,HRASLS5 EXON Silent,Silent,Missense_S55F,Missense_S55F,Silent exm920674 11 63258416 [T/C] NR_037451,NR_049833,NM_054108,NM_001146728,NM_001146729 MIR3680-1,MIR3680-2,HRASLS5,HRASLS5,HRASLS5 EXON Silent,Silent,Missense_S31G,Missense_S31G,Missense_S31G exm920680 11 63273895 [A/G] NR_037451,NR_049833,NM_001142536,NM_033101,NM_001142535 MIR3680-1,MIR3680-2,LGALS12,LGALS12,LGALS12 EXON Silent,Silent,Missense_G11R,Missense_G11R,Missense_G11R exm920683 11 63273932 [T/C] NR_037451,NR_049833,NM_001142536,NM_033101,NM_001142535 MIR3680-1,MIR3680-2,LGALS12,LGALS12,LGALS12 EXON Silent,Silent,Missense_M23T,Missense_M23T,Missense_M23T exm920690 11 63276269 [T/C] NR_037451,NR_049833,NM_001142536,NM_033101,NM_001142535,NM_001142537,NM_001142538 MIR3680-1,MIR3680-2,LGALS12,LGALS12,LGALS12,LGALS12,LGALS12 EXON Silent,Silent,Missense_C82R,Missense_C82R,Missense_C83R,Missense_C21R,Missense_C21R exm920696 11 63276372 [A/G] NR_037451,NR_049833,NM_001142536,NM_033101,NM_001142535,NM_001142537,NM_001142538 MIR3680-1,MIR3680-2,LGALS12,LGALS12,LGALS12,LGALS12,LGALS12 EXON Silent,Silent,Missense_R116H,Missense_R116H,Missense_R117H,Missense_R55H,Missense_R55H exm920700 11 63276432 [A/T] NR_037451,NR_049833,NM_001142536,NM_033101,NM_001142535,NM_001142537,NM_001142538 MIR3680-1,MIR3680-2,LGALS12,LGALS12,LGALS12,LGALS12,LGALS12 EXON Silent,Silent,Missense_I136N,Missense_I136N,Missense_I137N,Missense_I75N,Missense_I75N exm920703 11 63277289 [T/C] NR_037451,NR_049833,NM_001142536,NM_033101,NM_001142535,NM_001142537,NM_001142538 MIR3680-1,MIR3680-2,LGALS12,LGALS12,LGALS12,LGALS12,LGALS12 EXON Silent,Silent,Missense_R160W,Missense_R160W,Missense_R161W,Missense_R99W,Missense_R99W exm920705 11 63277334 [A/G] NR_037451,NR_049833,NM_001142536,NM_033101,NM_001142535,NM_001142537,NM_001142538 MIR3680-1,MIR3680-2,LGALS12,LGALS12,LGALS12,LGALS12,LGALS12 EXON Silent,Silent,Missense_I175V,Missense_I175V,Missense_I176V,Missense_I114V,Missense_I114V exm920707 11 63277349 [A/G] NR_037451,NR_049833,NM_001142536,NM_033101,NM_001142535,NM_001142537,NM_001142538 MIR3680-1,MIR3680-2,LGALS12,LGALS12,LGALS12,LGALS12,LGALS12 EXON Silent,Silent,Missense_V180I,Missense_V180I,Missense_V181I,Missense_V119I,Missense_V119I exm920708 11 63277971 [T/C] NR_037451,NR_049833,NM_001142536,NM_033101,NM_001142535,NM_001142537,NM_001142538 MIR3680-1,MIR3680-2,LGALS12,LGALS12,LGALS12,LGALS12,LGALS12 EXON Silent,Silent,Missense_H199Y,Missense_H199Y,Missense_H200Y,Missense_H138Y,Missense_H138Y exm920719 11 63279285 [A/G] NR_037451,NR_049833,NM_001142536,NM_033101,NM_001142535,NM_001142537,NM_001142538 MIR3680-1,MIR3680-2,LGALS12,LGALS12,LGALS12,LGALS12,LGALS12 EXON Silent,Silent,Missense_R220Q,Missense_R229Q,Missense_R230Q,Missense_R168Q,Missense_R159Q exm920723 11 63279311 [A/C] NR_037451,NR_049833,NM_001142536,NM_033101,NM_001142535,NM_001142537,NM_001142538 MIR3680-1,MIR3680-2,LGALS12,LGALS12,LGALS12,LGALS12,LGALS12 EXON Silent,Silent,Missense_H229N,Missense_H238N,Missense_H239N,Missense_H177N,Missense_H168N exm920724 11 63279313 [A/G] NR_037451,NR_049833,NM_001142536,NM_033101,NM_001142535,NM_001142537,NM_001142538 MIR3680-1,MIR3680-2,LGALS12,LGALS12,LGALS12,LGALS12,LGALS12 Silent,Silent,Silent,Silent,Silent,Silent,Silent exm920727 11 63283069 [A/G] NR_037451,NR_049833,NM_001142536,NM_033101,NM_001142535,NM_001142537,NM_001142538 MIR3680-1,MIR3680-2,LGALS12,LGALS12,LGALS12,LGALS12,LGALS12 EXON Silent,Silent,Missense_A241T,Missense_A250T,Missense_A251T,Missense_A189T,Missense_A180T exm920733 11 63283160 [T/C] NR_037451,NR_049833,NM_001142536,NM_033101,NM_001142535,NM_001142537,NM_001142538 MIR3680-1,MIR3680-2,LGALS12,LGALS12,LGALS12,LGALS12,LGALS12 EXON Silent,Silent,Missense_L271P,Missense_L280P,Missense_L281P,Missense_L219P,Missense_L210P exm920743 11 63283825 [A/G] NR_037451,NR_049833,NM_001142536,NM_033101,NM_001142535,NM_001142537,NM_001142538 MIR3680-1,MIR3680-2,LGALS12,LGALS12,LGALS12,LGALS12,LGALS12 EXON Silent,Silent,Missense_R315Q,Missense_R324Q,Missense_R325Q,Missense_R263Q,Missense_R254Q exm920746 11 63307031 [A/G] NR_037451,NR_049833,NM_004585 MIR3680-1,MIR3680-2,RARRES3 EXON Silent,Silent,Missense_R18H exm920751 11 63312158 [T/C] NR_037451,NR_049833,NM_004585 MIR3680-1,MIR3680-2,RARRES3 EXON Silent,Silent,Missense_R62W exm920765 11 63313648 [T/G] NR_037451,NR_049833,NM_004585 MIR3680-1,MIR3680-2,RARRES3 EXON Silent,Silent,Missense_V139L exm920766 11 63313658 [T/C] NR_037451,NR_049833,NM_004585 MIR3680-1,MIR3680-2,RARRES3 EXON Silent,Silent,Missense_A142V exm920779 11 63320516 [T/C] NR_037451,NR_049833,NM_017878 MIR3680-1,MIR3680-2,HRASLS2 EXON Silent,Silent,Missense_V137I exm920782 11 63325875 [A/G] NM_017878 HRASLS2 EXON Missense_R126C exm920795 11 63326109 [T/C] NM_017878 HRASLS2 EXON Missense_A48T exm920797 11 63326111 [A/G] NM_017878 HRASLS2 EXON Missense_A47V exm920800 11 63327623 [A/G] NM_017878 HRASLS2 EXON Missense_R18C exm920802 11 63327654 [T/G] NM_017878 HRASLS2 EXON Missense_R7S exm920814 11 63357583 [A/G] NM_001128203,NM_007069 PLA2G16,PLA2G16 EXON Missense_R126C,Missense_R126C exm920817 11 63357672 [A/G] NM_001128203,NM_007069 PLA2G16,PLA2G16 EXON Missense_A96V,Missense_A96V exm920818 11 63357676 [A/G] NM_001128203,NM_007069 PLA2G16,PLA2G16 EXON Missense_R95W,Missense_R95W exm920831 11 63357826 [G/C] NM_001128203,NM_007069 PLA2G16,PLA2G16 EXON Missense_A45P,Missense_A45P exm920844 11 63396808 [T/C] NM_015459 ATL3 EXON Missense_D537N exm920850 11 63398550 [T/C] NM_015459 ATL3 EXON Missense_G501R exm920864 11 63398943 [A/C] NM_015459 ATL3 EXON Missense_V370F exm920869 11 63403007 [T/A] NM_015459 ATL3 EXON Missense_Q345L exm920880 11 63410966 [A/C] NM_015459 ATL3 EXON Missense_V238G exm920883 11 63414004 [A/T] NM_015459 ATL3 EXON Missense_D198V exm920891 11 63426265 [T/C] NM_015459 ATL3 EXON Missense_V125I exm920909 11 63449125 [A/C] NM_001265591,NR_049751,NM_201429,NM_001265590,NM_006054,NM_001265589,NM_201430,NR_049750,NM_201428 RTN3,RTN3,RTN3,RTN3,RTN3,RTN3,RTN3,RTN3,RTN3 EXON Missense_A6E,Silent,Missense_A6E,Missense_A6E,Missense_A6E,Missense_A6E,Missense_A6E,Silent,Missense_A6E exm920923 11 63486284 [A/G] NM_001265591,NR_049751,NM_201429,NM_001265590,NM_006054,NM_001265589,NM_201430,NR_049750,NM_201428 RTN3,RTN3,RTN3,RTN3,RTN3,RTN3,RTN3,RTN3,RTN3 EXON Silent,Silent,Silent,Silent,Silent,Missense_K104E,Silent,Silent,Missense_K85E exm920927 11 63486392 [A/G] NM_001265591,NR_049751,NM_201429,NM_001265590,NM_006054,NM_001265589,NM_201430,NR_049750,NM_201428 RTN3,RTN3,RTN3,RTN3,RTN3,RTN3,RTN3,RTN3,RTN3 EXON Silent,Silent,Silent,Silent,Silent,Missense_V140I,Silent,Silent,Missense_V121I exm920939 11 63486573 [A/G] NM_001265591,NR_049751,NM_201429,NM_001265590,NM_006054,NM_001265589,NM_201430,NR_049750,NM_201428 RTN3,RTN3,RTN3,RTN3,RTN3,RTN3,RTN3,RTN3,RTN3 EXON Silent,Silent,Silent,Missense_D88G,Silent,Missense_D200G,Silent,Silent,Missense_D181G exm920947 11 63486893 [A/G] NM_001265591,NR_049751,NM_201429,NM_001265590,NM_006054,NM_001265589,NM_201430,NR_049750,NM_201428 RTN3,RTN3,RTN3,RTN3,RTN3,RTN3,RTN3,RTN3,RTN3 EXON Silent,Silent,Silent,Missense_M195V,Silent,Missense_M307V,Silent,Silent,Missense_M288V exm920955 11 63487122 [T/C] NM_001265591,NR_049751,NM_201429,NM_001265590,NM_006054,NM_001265589,NM_201430,NR_049750,NM_201428 RTN3,RTN3,RTN3,RTN3,RTN3,RTN3,RTN3,RTN3,RTN3 EXON Silent,Silent,Silent,Missense_T271I,Silent,Missense_T383I,Silent,Silent,Missense_T364I exm920956 11 63487148 [A/G] NM_001265591,NR_049751,NM_201429,NM_001265590,NM_006054,NM_001265589,NM_201430,NR_049750,NM_201428 RTN3,RTN3,RTN3,RTN3,RTN3,RTN3,RTN3,RTN3,RTN3 EXON Silent,Silent,Silent,Missense_I280V,Silent,Missense_I392V,Silent,Silent,Missense_I373V exm920970 11 63487386 [T/C] NM_001265591,NR_049751,NM_201429,NM_001265590,NM_006054,NM_001265589,NM_201430,NR_049750,NM_201428 RTN3,RTN3,RTN3,RTN3,RTN3,RTN3,RTN3,RTN3,RTN3 EXON Silent,Silent,Silent,Missense_V359A,Silent,Missense_V471A,Silent,Silent,Missense_V452A exm920987 11 63487766 [T/G] NM_001265591,NR_049751,NM_201429,NM_001265590,NM_006054,NM_001265589,NM_201430,NR_049750,NM_201428 RTN3,RTN3,RTN3,RTN3,RTN3,RTN3,RTN3,RTN3,RTN3 EXON Silent,Silent,Silent,Missense_V486F,Silent,Missense_V598F,Silent,Silent,Missense_V579F exm920989 11 63487782 [T/C] NM_001265591,NR_049751,NM_201429,NM_001265590,NM_006054,NM_001265589,NM_201430,NR_049750,NM_201428 RTN3,RTN3,RTN3,RTN3,RTN3,RTN3,RTN3,RTN3,RTN3 EXON Silent,Silent,Silent,Missense_P491L,Silent,Missense_P603L,Silent,Silent,Missense_P584L exm920995 11 63488024 [T/A] NM_001265591,NR_049751,NM_201429,NM_001265590,NM_006054,NM_001265589,NM_201430,NR_049750,NM_201428 RTN3,RTN3,RTN3,RTN3,RTN3,RTN3,RTN3,RTN3,RTN3 EXON Silent,Silent,Silent,Missense_F572I,Silent,Missense_F684I,Silent,Silent,Missense_F665I exm921001 11 63488159 [G/C] NM_001265591,NR_049751,NM_201429,NM_001265590,NM_006054,NM_001265589,NM_201430,NR_049750,NM_201428 RTN3,RTN3,RTN3,RTN3,RTN3,RTN3,RTN3,RTN3,RTN3 EXON Silent,Silent,Silent,Missense_Q617E,Silent,Missense_Q729E,Silent,Silent,Missense_Q710E exm921010 11 63488357 [T/C] NM_001265591,NR_049751,NM_201429,NM_001265590,NM_006054,NM_001265589,NM_201430,NR_049750,NM_201428 RTN3,RTN3,RTN3,RTN3,RTN3,RTN3,RTN3,RTN3,RTN3 EXON Silent,Silent,Silent,Missense_R683C,Silent,Missense_R795C,Silent,Silent,Missense_R776C exm921030 11 63523611 [A/G] NM_001265591,NR_049751,NM_201429,NM_001265590,NM_006054,NM_001265589,NM_201430,NR_049750,NM_201428 RTN3,RTN3,RTN3,RTN3,RTN3,RTN3,RTN3,RTN3,RTN3 EXON Synonymous_S126S,Silent,Missense_A231T,Missense_A896T,Missense_A212T,Missense_A1008T,Silent,Silent,Missense_A989T exm2273481 11 63525778 [T/C] NM_001265591,NR_049751,NM_201429,NM_001265590,NM_006054,NM_001265589,NM_201430,NR_049750,NM_201428 RTN3,RTN3,RTN3,RTN3,RTN3,RTN3,RTN3,RTN3,RTN3 EXON Missense_A187V,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm921065 11 63585316 [T/C] NM_138471 C11orf84 EXON Missense_P56L exm921066 11 63585321 [C/G] NM_138471 C11orf84 EXON Missense_E58Q exm921067 11 63585359 [C/G] NM_138471 C11orf84 EXON Missense_Q70H exm921086 11 63586001 [A/G] NM_138471 C11orf84 EXON Missense_V204I exm921094 11 63586294 [A/C] NM_138471 C11orf84 EXON Missense_P252T exm921100 11 63586389 [C/G] NM_138471 C11orf84 EXON Missense_Q283H exm2250117 11 63587313 [T/C] NM_138471 C11orf84 Silent exm921108 11 63594517 [A/G] NM_138471 C11orf84 EXON Missense_R351H exm921150 11 63668312 [T/G] NM_001163296,NM_001163297,NM_004954,NM_001039469,NM_017490 MARK2,MARK2,MARK2,MARK2,MARK2 EXON Missense_V317L,Missense_V317L,Missense_V317L,Missense_V317L,Missense_V284L exm921160 11 63669766 [T/C] NM_001163296,NM_001163297,NM_004954,NM_001039469,NM_017490 MARK2,MARK2,MARK2,MARK2,MARK2 EXON Missense_S400P,Missense_S400P,Missense_S400P,Missense_S400P,Missense_S367P exm921184 11 63672421 [A/G] NM_001163296,NM_001163297,NM_004954,NM_001039469,NM_017490 MARK2,MARK2,MARK2,MARK2,MARK2 EXON Missense_G560S,Missense_G559S,Missense_G559S,Missense_G614S,Missense_G580S exm921190 11 63672479 [A/G] NM_001163296,NM_001163297,NM_004954,NM_001039469,NM_017490 MARK2,MARK2,MARK2,MARK2,MARK2 EXON Missense_S579N,Missense_S578N,Missense_S578N,Missense_S633N,Missense_S599N exm921192 11 63675772 [T/C] NM_001163296,NM_001163297,NM_004954,NM_001039469,NM_017490 MARK2,MARK2,MARK2,MARK2,MARK2 EXON Silent,Silent,Missense_L604F,Missense_L668F,Missense_L625F exm921230 11 63679947 [G/C] NM_173587 RCOR2 EXON Missense_L363V exm2250118 11 63680369 [A/G] NM_173587 RCOR2 EXON Synonymous_G314G exm921296 11 63713311 [A/G] NM_024771 NAA40 Silent exm921307 11 63719721 [T/C] NM_024771 NAA40 EXON Missense_S56F exm921311 11 63719762 [A/G] NM_024771 NAA40 EXON Missense_V70M exm921321 11 63719994 [T/C] NM_024771 NAA40 EXON Missense_H123Y exm921347 11 63742219 [T/C] NM_004074 COX8A EXON Missense_R23C exm921376 11 63764567 [A/G] NM_017670,NR_003089 OTUB1,OTUB1 EXON Missense_D157N,Silent exm921415 11 63767166 [T/C] NM_014067 MACROD1 EXON Missense_S245N exm921429 11 63782730 [T/C] NM_014067 MACROD1 EXON Missense_G181S exm921438 11 63883803 [A/G] NM_014067,NM_013280 MACROD1,FLRT1 EXON Silent,Missense_V22I exm921440 11 63883825 [A/T] NM_014067,NM_013280 MACROD1,FLRT1 EXON Silent,Missense_M29K exm921446 11 63883906 [T/C] NM_014067,NM_013280 MACROD1,FLRT1 EXON Silent,Missense_S56L exm921457 11 63884146 [A/G] NM_014067,NM_013280 MACROD1,FLRT1 EXON Silent,Missense_D136G exm2250121 11 63884561 [A/G] NM_014067,NM_013280 MACROD1,FLRT1 EXON Silent,Synonymous_K274K exm921483 11 63884632 [A/G] NM_014067,NM_013280 MACROD1,FLRT1 EXON Silent,Missense_R298Q exm921485 11 63884654 [A/C] NM_014067,NM_013280 MACROD1,FLRT1 EXON Silent,Missense_N305K exm921490 11 63884682 [A/G] NM_014067,NM_013280 MACROD1,FLRT1 EXON Silent,Missense_D315N exm921493 11 63884716 [A/G] NM_014067,NM_013280 MACROD1,FLRT1 EXON Silent,Missense_R326K exm2219073 11 63884861 [G/C] NM_014067,NM_013280 MACROD1,FLRT1 EXON Silent,Missense_E374D exm921510 11 63884971 [T/C] NM_014067,NM_013280 MACROD1,FLRT1 EXON Silent,Missense_T411I exm921519 11 63885120 [A/G] NM_014067,NM_013280 MACROD1,FLRT1 EXON Silent,Missense_A461T exm921539 11 63885451 [T/G] NM_014067,NM_013280 MACROD1,FLRT1 EXON Silent,Missense_G571V exm921550 11 63885582 [T/C] NM_014067,NM_013280 MACROD1,FLRT1 EXON Silent,Missense_R615C exm921556 11 63885697 [T/C] NM_014067,NM_013280 MACROD1,FLRT1 EXON Silent,Missense_I653T exm921574 11 63918762 [T/G] NM_014067 MACROD1 EXON Missense_L156M exm921580 11 63919769 [A/G] NM_014067 MACROD1 EXON Missense_A132V exm921582 11 63919835 [T/C] NM_014067 MACROD1 EXON Missense_R110Q exm921603 11 63960554 [A/G] NM_006819 STIP1 EXON Missense_N5S exm921614 11 63961746 [A/G] NM_006819 STIP1 EXON Missense_E102G exm-rs11607165 11 63963947 [T/G] NM_006819 STIP1 Silent exm921630 11 63964815 [A/G] NM_006819 STIP1 EXON Missense_D249N exm921674 11 63974892 [A/G] NM_178443,NM_031471 FERMT3,FERMT3 EXON Missense_R19Q,Missense_R19Q exm921678 11 63974940 [T/G] NM_178443,NM_031471 FERMT3,FERMT3 EXON Missense_R35L,Missense_R35L exm921682 11 63974966 [A/G] NM_178443,NM_031471 FERMT3,FERMT3 EXON Missense_G44R,Missense_G44R exm1727142 11 63978128 [A/C] NM_178443,NM_031471 FERMT3,FERMT3 EXON Missense_K69T,Missense_K69T exm921694 11 63978220 [A/G] NM_178443,NM_031471 FERMT3,FERMT3 EXON Missense_V100I,Missense_V100I exm921698 11 63978242 [A/G] NM_178443,NM_031471 FERMT3,FERMT3 EXON Missense_R107H,Missense_R107H exm921699 11 63978253 [T/C] NM_178443,NM_031471 FERMT3,FERMT3 EXON Missense_R111C,Missense_R111C exm921710 11 63978759 [T/C] NM_178443,NM_031471 FERMT3,FERMT3 EXON Missense_A176V,Missense_A176V exm921711 11 63978797 [A/G] NM_178443,NM_031471 FERMT3,FERMT3 EXON Missense_A189T,Missense_A189T exm921713 11 63978839 [T/C] NM_178443,NM_031471 FERMT3,FERMT3 EXON Missense_P203S,Missense_P203S exm921714 11 63978840 [T/C] NM_178443,NM_031471 FERMT3,FERMT3 EXON Missense_P203L,Missense_P203L exm921717 11 63978867 [A/G] NM_178443,NM_031471 FERMT3,FERMT3 EXON Missense_R212H,Missense_R212H exm921725 11 63979169 [A/G] NM_178443,NM_031471 FERMT3,FERMT3 EXON Missense_A246T,Missense_A246T exm921744 11 63987441 [C/G] NM_178443,NM_031471 FERMT3,FERMT3 EXON Missense_S390R,Missense_S386R exm921761 11 63988026 [A/G] NM_178443,NM_031471 FERMT3,FERMT3 EXON Missense_R481H,Missense_R477H exm921766 11 63988119 [A/C] NM_178443,NM_031471 FERMT3,FERMT3 EXON Missense_Q512P,Missense_Q508P exm921783 11 63990800 [A/G] NM_178443,NM_031471 FERMT3,FERMT3 EXON Missense_D614N,Missense_D610N exm921801 11 63991581 [A/G] NM_001160389,NM_001160393,NM_001033678,NM_031472,NM_001160390,NM_001160392 TRPT1,TRPT1,TRPT1,TRPT1,TRPT1,TRPT1 EXON Missense_R223C,Missense_R222C,Missense_R221C,Missense_R172C,Missense_R221C,Silent exm921803 11 63991656 [T/C] NM_001160389,NM_001160393,NM_001033678,NM_031472,NM_001160390,NM_001160392 TRPT1,TRPT1,TRPT1,TRPT1,TRPT1,TRPT1 EXON Missense_N198D,Missense_N197D,Missense_N196D,Missense_N147D,Missense_N196D,Silent exm921806 11 63991801 [T/C] NM_001160389,NM_001160393,NM_001033678,NM_031472,NM_001160390,NM_001160392 TRPT1,TRPT1,TRPT1,TRPT1,TRPT1,TRPT1 EXON Missense_H174R,Missense_H172R,Missense_H172R,Missense_H123R,Missense_H172R,Missense_H172R exm921807 11 63991808 [A/G] NM_001160389,NM_001160393,NM_001033678,NM_031472,NM_001160390,NM_001160392 TRPT1,TRPT1,TRPT1,TRPT1,TRPT1,TRPT1 EXON Missense_R172W,Missense_R170W,Missense_R170W,Missense_R121W,Missense_R170W,Missense_R170W exm921809 11 63992059 [A/G] NM_001160389,NM_001160393,NM_001033678,NM_031472,NM_001160390,NM_001160392 TRPT1,TRPT1,TRPT1,TRPT1,TRPT1,TRPT1 EXON Missense_I155T,Missense_I153T,Missense_I153T,Missense_I104T,Missense_I153T,Missense_I153T exm921814 11 63992155 [A/G] NM_001160389,NM_001160393,NM_001033678,NM_031472,NM_001160390,NM_001160392 TRPT1,TRPT1,TRPT1,TRPT1,TRPT1,TRPT1 EXON Missense_P123L,Missense_P121L,Missense_P121L,Missense_P72L,Missense_P121L,Missense_P121L exm921816 11 63992308 [A/G] NM_001160389,NM_001160393,NM_001033678,NM_031472,NM_001160390,NM_001160392 TRPT1,TRPT1,TRPT1,TRPT1,TRPT1,TRPT1 EXON Missense_L98F,Missense_L98F,Missense_L98F,Missense_L49F,Missense_L98F,Missense_L98F exm921824 11 63993287 [T/C] NM_001160389,NM_001160393,NM_001033678,NM_031472,NM_001160390,NM_001160392 TRPT1,TRPT1,TRPT1,TRPT1,TRPT1,TRPT1 EXON Missense_G16S,Missense_G16S,Missense_G16S,Silent,Missense_G16S,Missense_G16S exm921826 11 63994136 [T/G] NM_001271831,NM_001128612,NM_032344,NM_001128613 NUDT22,NUDT22,NUDT22,NUDT22 EXON Missense_E4D,Missense_E4D,Missense_E4D,Missense_E4D exm921830 11 63994230 [T/G] NM_001271831,NM_001128612,NM_032344,NM_001128613 NUDT22,NUDT22,NUDT22,NUDT22 EXON Missense_G36C,Missense_G36C,Missense_G36C,Missense_G36C exm921839 11 63994399 [T/G] NM_001271831,NM_001128612,NM_032344,NM_001128613 NUDT22,NUDT22,NUDT22,NUDT22 EXON Missense_G92V,Missense_G92V,Missense_G92V,Missense_G92V exm921842 11 63994510 [C/G] NM_001271831,NM_001128612,NM_032344,NM_001128613 NUDT22,NUDT22,NUDT22,NUDT22 EXON Missense_T129R,Missense_T129R,Missense_T129R,Missense_T129R exm921846 11 63994581 [T/C] NM_001271831,NM_001128612,NM_032344,NM_001128613 NUDT22,NUDT22,NUDT22,NUDT22 EXON Missense_P153S,Missense_P153S,Missense_P153S,Missense_P153S exm921856 11 63996767 [A/G] NM_001271831,NM_001128612,NM_032344,NM_001128613 NUDT22,NUDT22,NUDT22,NUDT22 EXON Missense_A177T,Missense_A210T,Missense_A210T,Missense_A177T exm921870 11 63997329 [A/G] NM_001271831,NM_001128612,NM_032344,NM_001128613 NUDT22,NUDT22,NUDT22,NUDT22 EXON Missense_Q227R,Missense_Q260R,Missense_Q260R,Missense_Q227R exm921871 11 63997338 [T/C] NM_001271831,NM_001128612,NM_032344,NM_001128613 NUDT22,NUDT22,NUDT22,NUDT22 EXON Missense_L230P,Missense_L263P,Missense_L263P,Missense_L230P exm921873 11 63997415 [T/C] NM_001271831,NM_001128612,NM_032344,NM_001128613 NUDT22,NUDT22,NUDT22,NUDT22 EXON Missense_P256S,Missense_P289S,Missense_P289S,Missense_P256S exm921892 11 63999929 [T/C] NM_005528 DNAJC4 EXON Missense_P70S exm921894 11 63999971 [T/C] NM_005528 DNAJC4 EXON Missense_R84C exm921899 11 63999999 [A/G] NM_005528 DNAJC4 EXON Missense_R93H exm921901 11 64000019 [T/C] NM_005528 DNAJC4 EXON Missense_R100C exm921919 11 64001633 [A/G] NM_005528 DNAJC4 EXON Missense_V235M exm921935 11 64003434 [A/G] NM_001243733,NM_003377 VEGFB,VEGFB EXON Missense_D85N,Missense_D85N exm921938 11 64003467 [G/C] NM_001243733,NM_003377 VEGFB,VEGFB EXON Missense_Q96E,Missense_Q96E exm2250123 11 64004674 [T/C] NM_001243733,NM_003377 VEGFB,VEGFB EXON Synonymous_D130D,Synonymous_D130D exm1727248 11 64004929 [G/C] NM_001243733,NM_003377 VEGFB,VEGFB EXON Silent,Missense_V150L exm921966 11 64004978 [A/C] NM_001243733,NM_003377 VEGFB,VEGFB EXON Silent,Missense_T166N exm921980 11 64005097 [A/G] NM_001243733,NM_003377 VEGFB,VEGFB EXON Missense_R172Q,Missense_G206R exm921983 11 64009879 [A/G] NM_004470,NM_001135208,NM_057092 FKBP2,FKBP2,FKBP2 EXON Missense_R7Q,Missense_R7Q,Missense_R7Q exm921988 11 64009941 [A/G] NM_004470,NM_001135208,NM_057092 FKBP2,FKBP2,FKBP2 EXON Missense_K28E,Missense_K28E,Missense_K28E exm921989 11 64009983 [A/T] NM_004470,NM_001135208,NM_057092 FKBP2,FKBP2,FKBP2 EXON Missense_C42S,Missense_C42S,Missense_C42S exm922002 11 64011441 [T/C] NM_004470,NM_001135208,NM_057092 FKBP2,FKBP2,FKBP2 EXON Synonymous_G123G,Synonymous_G123G,Synonymous_G123G exm922003 11 64011442 [A/G] NM_004470,NM_001135208,NM_057092 FKBP2,FKBP2,FKBP2 EXON Missense_G124S,Missense_G124S,Missense_G124S exm922019 11 64021930 [A/G] NM_001184883,NM_000932 PLCB3,PLCB3 EXON Silent,Missense_N48S exm922030 11 64022785 [T/C] NM_001184883,NM_000932 PLCB3,PLCB3 EXON Missense_A89V,Missense_A156V exm922032 11 64022873 [T/C] NM_001184883,NM_000932 PLCB3,PLCB3 EXON Missense_T91M,Missense_T158M exm922033 11 64022905 [T/C] NM_001184883,NM_000932 PLCB3,PLCB3 EXON Missense_R102W,Missense_R169W exm-rs2244621 11 64026219 [T/C] NM_001184883,NM_000932 PLCB3,PLCB3 Silent,Silent exm1727298 11 64026357 [A/G] NM_001184883,NM_000932 PLCB3,PLCB3 EXON Synonymous_S351S,Synonymous_S418S exm922070 11 64026639 [A/G] NM_001184883,NM_000932 PLCB3,PLCB3 EXON Missense_R416H,Missense_R483H exm922079 11 64027567 [T/G] NM_001184883,NM_000932 PLCB3,PLCB3 EXON Missense_S464I,Missense_S531I exm922083 11 64027666 [A/C] NM_001184883,NM_000932 PLCB3,PLCB3 EXON Missense_E497A,Missense_E564A exm2250124 11 64028916 [A/G] NM_001184883,NM_000932 PLCB3,PLCB3 EXON Synonymous_T525T,Synonymous_T592T exm922107 11 64031030 [A/G] NM_001184883,NM_000932 PLCB3,PLCB3 EXON Missense_V739I,Missense_V806I exm922114 11 64031241 [T/C] NM_001184883,NM_000932 PLCB3,PLCB3 EXON Missense_S778L,Missense_S845L exm922122 11 64031571 [T/C] NM_001184883,NM_000932 PLCB3,PLCB3 EXON Missense_I813T,Missense_I880T exm922126 11 64032784 [A/G] NM_001184883,NM_000932 PLCB3,PLCB3 EXON Missense_V882M,Missense_V949M exm922132 11 64032945 [T/G] NM_001184883,NM_000932 PLCB3,PLCB3 EXON Missense_E935D,Missense_E1002D exm922134 11 64033360 [T/G] NM_001184883,NM_000932 PLCB3,PLCB3 EXON Missense_G946V,Missense_G1013V exm922136 11 64033391 [C/G] NM_001184883,NM_000932 PLCB3,PLCB3 EXON Missense_E956D,Missense_E1023D exm922149 11 64033986 [T/C] NM_001184883,NM_000932 PLCB3,PLCB3 EXON Missense_R1059C,Missense_R1126C exm922159 11 64034734 [T/G] NM_001184883,NM_000932 PLCB3,PLCB3 EXON Missense_E1097D,Missense_E1164D exm922169 11 64034975 [A/G] NM_001184883,NM_000932 PLCB3,PLCB3 EXON Missense_G1151R,Missense_G1218R exm922178 11 64037726 [C/G] NM_032989,NM_004322 BAD,BAD EXON Missense_W154C,Missense_W154C exm922221 11 64053988 [T/C] NM_001170726,NM_001177358,NM_001170881,NM_020155,NM_001170880 GPR137,GPR137,GPR137,GPR137,GPR137 EXON Missense_L56F,Silent,Silent,Silent,Silent exm1727372 11 64054464 [T/C] NM_001170726,NM_001177358,NM_001170881,NM_020155,NM_001170880 GPR137,GPR137,GPR137,GPR137,GPR137 EXON Missense_R187W,Missense_R129W,Missense_R129W,Missense_R129W,Missense_R129W exm922244 11 64055365 [T/C] NM_001170726,NM_001177358,NM_001170881,NM_020155,NM_001170880 GPR137,GPR137,GPR137,GPR137,GPR137 EXON Missense_L252F,Missense_L194F,Missense_L194F,Missense_L194F,Missense_L194F exm922248 11 64055377 [A/G] NM_001170726,NM_001177358,NM_001170881,NM_020155,NM_001170880 GPR137,GPR137,GPR137,GPR137,GPR137 EXON Missense_A256T,Missense_A198T,Missense_A198T,Missense_A198T,Missense_A198T exm922252 11 64055562 [T/C] NM_001170726,NM_001177358,NM_001170881,NM_020155,NM_001170880 GPR137,GPR137,GPR137,GPR137,GPR137 EXON Missense_A278V,Missense_A220V,Silent,Missense_A220V,Missense_A220V exm922259 11 64055627 [T/A] NM_001170726,NM_001177358,NM_001170881,NM_020155,NM_001170880 GPR137,GPR137,GPR137,GPR137,GPR137 EXON Missense_L300M,Missense_L242M,Silent,Missense_L242M,Missense_L242M exm922264 11 64055813 [T/C] NM_001170726,NM_001177358,NM_001170881,NM_020155,NM_001170880 GPR137,GPR137,GPR137,GPR137,GPR137 EXON Missense_A320V,Missense_A262V,Missense_A212V,Missense_A262V,Missense_A262V exm922269 11 64056078 [A/C] NM_001170726,NM_001177358,NM_001170881,NM_020155,NM_001170880 GPR137,GPR137,GPR137,GPR137,GPR137 EXON Missense_T364P,Silent,Missense_T256P,Missense_T306P,Missense_T306P exm922272 11 64056551 [T/C] NM_001170726,NM_001177358,NM_001170881,NM_020155,NM_001170880 GPR137,GPR137,GPR137,GPR137,GPR137 EXON Silent,Missense_R319W,Synonymous_I308I,Silent,Synonymous_I358I exm922290 11 64060583 [A/C] NM_033310 KCNK4 EXON Missense_H31Q exm922295 11 64064396 [T/C] NM_033310 KCNK4 EXON Missense_S79L exm922300 11 64064472 [T/C] NM_033310 KCNK4 EXON Synonymous_I104I exm922336 11 64066999 [T/C] NM_033310 KCNK4 EXON Missense_P328L exm922343 11 64067889 [A/G] NM_001039496 TEX40 EXON Missense_E3K exm922352 11 64068310 [T/C] NM_001039496 TEX40 EXON Missense_P68L exm922355 11 64068421 [A/G] NM_001039496 TEX40 EXON Missense_N105S exm922364 11 64072056 [A/G] NM_001039496 TEX40 EXON Missense_E181K exm922387 11 64081831 [A/G] NM_004451 ESRRA EXON Missense_R188Q exm922448 11 64085785 [A/G] NM_181651,NM_181652,NM_012094 PRDX5,PRDX5,PRDX5 EXON Missense_Y33C,Missense_Y33C,Missense_Y33C exm922459 11 64088252 [T/G] NM_181651,NM_181652,NM_012094 PRDX5,PRDX5,PRDX5 EXON Silent,Silent,Missense_K142N exm-rs694739 11 64097233 [A/G] exm922500 11 64109118 [T/G] NM_032251 CCDC88B EXON Missense_D193E exm2250125 11 64109160 [G/C] NM_032251 CCDC88B EXON Synonymous_R207R exm922510 11 64109466 [A/C] NM_032251 CCDC88B EXON Synonymous_R226R exm922515 11 64109538 [A/G] NM_032251 CCDC88B EXON Missense_E250K exm922516 11 64109545 [T/C] NM_032251 CCDC88B EXON Missense_P252L exm2219092 11 64109821 [A/G] NM_032251 CCDC88B EXON Missense_A293T exm922544 11 64111488 [T/C] NM_032251 CCDC88B EXON Missense_P492L exm922545 11 64111508 [A/C] NM_032251 CCDC88B EXON Missense_P499T exm922550 11 64111637 [A/G] NM_032251 CCDC88B EXON Missense_E542K exm922557 11 64111794 [A/G] NM_032251 CCDC88B EXON Missense_R594H exm922572 11 64112140 [C/G] NM_032251 CCDC88B EXON Missense_Q709H exm922574 11 64112144 [A/T] NM_032251 CCDC88B EXON Missense_W711R exm922579 11 64112186 [A/G] NM_032251 CCDC88B EXON Missense_A725T exm922582 11 64112270 [T/C] NM_032251 CCDC88B EXON Missense_R753C exm922592 11 64112394 [A/G] NM_032251 CCDC88B EXON Missense_R794Q exm922595 11 64112447 [G/C] NM_032251 CCDC88B EXON Missense_E812Q exm922601 11 64112574 [A/G] NM_032251 CCDC88B EXON Missense_R854H exm922609 11 64116845 [T/C] NM_032251 CCDC88B EXON Missense_R887W exm922620 11 64117067 [T/C] NM_032251 CCDC88B EXON Missense_A930V exm922622 11 64117070 [T/C] NM_032251 CCDC88B EXON Missense_A931V exm922623 11 64117106 [T/C] NM_032251 CCDC88B EXON Missense_T943I exm922632 11 64118648 [T/C] NM_032251 CCDC88B EXON Missense_A960V exm922651 11 64119674 [T/C] NM_032251 CCDC88B EXON Missense_R1058W exm922662 11 64119801 [A/G] NM_032251 CCDC88B EXON Missense_R1100Q exm922664 11 64120238 [T/C] NM_032251 CCDC88B EXON Missense_R1127W exm922685 11 64120895 [T/C] NM_032251 CCDC88B EXON Missense_R1254W exm922687 11 64120958 [T/C] NM_032251 CCDC88B EXON Missense_R1275W exm922690 11 64121190 [C/G] NM_032251 CCDC88B EXON Missense_D1279E exm922710 11 64122747 [A/G] NM_032251 CCDC88B EXON Missense_R1394Q exm922717 11 64122830 [T/C] NM_032251 CCDC88B EXON Missense_R1422C exm922722 11 64123095 [A/G] NM_032251 CCDC88B EXON Missense_R1457Q exm1727550 11 64124537 [C/G] NM_032251 CCDC88B EXON Missense_R1468G exm922762 11 64128998 [T/C] NM_001006944,NM_003942 RPS6KA4,RPS6KA4 EXON Missense_R210C,Missense_R210C exm922776 11 64129374 [T/C] NM_001006944,NM_003942 RPS6KA4,RPS6KA4 EXON Missense_A269V,Missense_A269V exm922782 11 64129428 [T/C] NM_001006944,NM_003942 RPS6KA4,RPS6KA4 EXON Missense_A287V,Missense_A287V exm922784 11 64132842 [G/C] NM_001006944,NM_003942 RPS6KA4,RPS6KA4 EXON Missense_L326V,Missense_L326V exm922789 11 64132915 [T/C] NM_001006944,NM_003942 RPS6KA4,RPS6KA4 EXON Missense_P350L,Missense_P350L exm922794 11 64135691 [T/C] NM_001006944,NM_003942 RPS6KA4,RPS6KA4 EXON Missense_R387W,Missense_R387W exm922797 11 64136019 [A/G] NM_001006944,NM_003942 RPS6KA4,RPS6KA4 EXON Missense_R421H,Missense_R427H exm2250127 11 64219747 [A/G] exm-rs1939120 11 64304715 [A/G] exm922853 11 64323476 [T/C] NM_018484 SLC22A11 EXON Missense_A2V exm922862 11 64323607 [A/G] NM_018484 SLC22A11 EXON Missense_G46S exm922863 11 64323613 [T/C] NM_018484 SLC22A11 EXON Nonsense_R48X exm922865 11 64323656 [G/C] NM_018484 SLC22A11 EXON Missense_T62R exm922898 11 64329582 [A/G] NM_018484 SLC22A11 EXON Missense_V202M exm922904 11 64329781 [T/C] NM_018484 SLC22A11 EXON Missense_T232M exm922906 11 64329804 [A/G] NM_018484 SLC22A11 EXON Missense_A240T exm922910 11 64329823 [A/G] NM_018484 SLC22A11 EXON Missense_G246D exm-rs17300741 11 64331462 [A/G] NM_018484 SLC22A11 Silent exm922914 11 64331790 [A/G] NM_018484 SLC22A11 EXON Missense_E278K exm922919 11 64331830 [A/G] NM_018484 SLC22A11 EXON Missense_Q291R exm922925 11 64332766 [A/G] NM_018484 SLC22A11 EXON Missense_V339M exm922927 11 64332779 [T/G] NM_018484 SLC22A11 EXON Missense_R343L exm-rs2078267 11 64334114 [T/C] NM_018484 SLC22A11 Silent exm922959 11 64338485 [A/G] NM_018484 SLC22A11 EXON Missense_A542T exm-rs505802 11 64357072 [T/C] exm-rs12800450 11 64359221 [T/G] NM_144585,NM_153378,NM_001276327,NM_001276326 SLC22A12,SLC22A12,SLC22A12,SLC22A12 EXON Missense_G65W,Silent,Missense_G65W,Missense_G65W exm922977 11 64359252 [T/C] NM_144585,NM_153378,NM_001276327,NM_001276326 SLC22A12,SLC22A12,SLC22A12,SLC22A12 EXON Missense_I75T,Silent,Missense_I75T,Missense_I75T exm922986 11 64359419 [A/G] NM_144585,NM_153378,NM_001276327,NM_001276326 SLC22A12,SLC22A12,SLC22A12,SLC22A12 EXON Missense_I131V,Silent,Missense_I131V,Missense_I131V exm1727699 11 64360260 [A/G] NM_144585,NM_153378,NM_001276327,NM_001276326 SLC22A12,SLC22A12,SLC22A12,SLC22A12 EXON Missense_V138M,Silent,Missense_V138M,Missense_V138M exm922988 11 64360279 [T/C] NM_144585,NM_153378,NM_001276327,NM_001276326 SLC22A12,SLC22A12,SLC22A12,SLC22A12 EXON Missense_L144P,Silent,Missense_L144P,Missense_L144P exm922995 11 64360978 [A/G] NM_144585,NM_153378,NM_001276327,NM_001276326 SLC22A12,SLC22A12,SLC22A12,SLC22A12 EXON Missense_R203H,Silent,Silent,Silent exm922999 11 64361122 [T/C] NM_144585,NM_153378,NM_001276327,NM_001276326 SLC22A12,SLC22A12,SLC22A12,SLC22A12 EXON Missense_A226V,Missense_A5V,Silent,Missense_A192V exm2274496 11 64361124 [A/G] NM_144585,NM_153378,NM_001276327,NM_001276326 SLC22A12,SLC22A12,SLC22A12,SLC22A12 EXON Missense_A227T,Missense_A6T,Silent,Missense_A193T exm1727705 11 64361219 [A/G] NM_144585,NM_153378,NM_001276327,NM_001276326 SLC22A12,SLC22A12,SLC22A12,SLC22A12 EXON Nonsense_W258X,Nonsense_W37X,Silent,Nonsense_W224X exm923010 11 64366298 [T/C] NM_144585,NM_153378,NM_001276327,NM_001276326 SLC22A12,SLC22A12,SLC22A12,SLC22A12 EXON Missense_R325W,Missense_R104W,Missense_R217W,Missense_R291W exm923015 11 64367152 [A/G] NM_144585,NM_153378,NM_001276327,NM_001276326 SLC22A12,SLC22A12,SLC22A12,SLC22A12 EXON Missense_A359T,Missense_A138T,Missense_A251T,Missense_A325T exm923018 11 64367239 [A/G] NM_144585,NM_153378,NM_001276327,NM_001276326 SLC22A12,SLC22A12,SLC22A12,SLC22A12 EXON Missense_V388M,Missense_V167M,Missense_V280M,Missense_V354M exm923022 11 64367300 [T/C] NM_144585,NM_153378,NM_001276327,NM_001276326 SLC22A12,SLC22A12,SLC22A12,SLC22A12 EXON Missense_T408M,Missense_T187M,Missense_T300M,Missense_T374M exm923031 11 64367853 [T/C] NM_144585,NM_153378,NM_001276327,NM_001276326 SLC22A12,SLC22A12,SLC22A12,SLC22A12 EXON Missense_R434C,Missense_R213C,Missense_R326C,Missense_R400C exm923032 11 64367854 [A/G] NM_144585,NM_153378,NM_001276327,NM_001276326 SLC22A12,SLC22A12,SLC22A12,SLC22A12 EXON Missense_R434H,Missense_R213H,Missense_R326H,Missense_R400H exm923037 11 64367902 [T/C] NM_144585,NM_153378,NM_001276327,NM_001276326 SLC22A12,SLC22A12,SLC22A12,SLC22A12 EXON Missense_T450I,Missense_T229I,Missense_T342I,Missense_T416I exm2275241 11 64368207 [A/G] NM_144585,NM_153378,NM_001276327,NM_001276326 SLC22A12,SLC22A12,SLC22A12,SLC22A12 EXON Synonymous_R465R,Synonymous_R244R,Synonymous_R357R,Synonymous_R431R exm923042 11 64368239 [A/C] NM_144585,NM_153378,NM_001276327,NM_001276326 SLC22A12,SLC22A12,SLC22A12,SLC22A12 EXON Missense_A476D,Missense_A255D,Missense_A368D,Missense_A442D exm923045 11 64368272 [A/G] NM_144585,NM_153378,NM_001276327,NM_001276326 SLC22A12,SLC22A12,SLC22A12,SLC22A12 EXON Missense_R487Q,Missense_R266Q,Missense_R379Q,Missense_R453Q exm923057 11 64368973 [A/G] NM_144585,NM_153378,NM_001276327,NM_001276326 SLC22A12,SLC22A12,SLC22A12,SLC22A12 EXON Missense_A538T,Missense_A317T,Missense_A430T,Missense_A504T exm923117 11 64402743 [A/G] NM_138732,NM_138734,NM_015080 NRXN2,NRXN2,NRXN2 EXON Synonymous_I1155I,Synonymous_I149I,Synonymous_I1195I exm923140 11 64416239 [A/G] NM_138732,NM_015080 NRXN2,NRXN2 EXON Missense_H1044Y,Missense_H1084Y exm923144 11 64416356 [T/C] NM_138732,NM_015080 NRXN2,NRXN2 EXON Missense_S1005G,Missense_S1045G exm923147 11 64417937 [T/C] NM_138732,NM_015080 NRXN2,NRXN2 EXON Missense_R991Q,Missense_R1031Q exm923160 11 64418989 [T/C] NM_138732,NM_015080 NRXN2,NRXN2 EXON Missense_V846M,Missense_V886M exm923169 11 64419085 [A/G] NM_138732,NM_015080 NRXN2,NRXN2 EXON Missense_R814W,Missense_R854W exm1727755 11 64419569 [A/G] NM_138732,NM_015080 NRXN2,NRXN2 EXON Missense_T785M,Missense_T825M exm923174 11 64419581 [T/C] NM_138732,NM_015080 NRXN2,NRXN2 EXON Missense_N781S,Missense_N821S exm923176 11 64419602 [A/G] NM_138732,NM_015080 NRXN2,NRXN2 EXON Missense_A774V,Missense_A814V exm923186 11 64427912 [A/T] NM_138732,NM_015080 NRXN2,NRXN2 EXON Missense_M730L,Missense_M761L exm923192 11 64428239 [T/C] NM_138732,NM_015080 NRXN2,NRXN2 EXON Missense_R693Q,Missense_R724Q exm923209 11 64428581 [A/G] NM_138732,NM_015080 NRXN2,NRXN2 EXON Missense_P579L,Missense_P610L exm923218 11 64434956 [A/G] NM_138732,NM_015080 NRXN2,NRXN2 EXON Missense_R491C,Missense_R522C exm923220 11 64434997 [T/C] NM_138732,NM_015080 NRXN2,NRXN2 EXON Missense_R477H,Missense_R508H exm923223 11 64435006 [A/G] NM_138732,NM_015080 NRXN2,NRXN2 EXON Missense_A474V,Missense_A505V exm923249 11 64453180 [T/C] NM_138732,NM_015080 NRXN2,NRXN2 EXON Missense_V340I,Missense_V364I exm923282 11 64480711 [T/C] NM_138732,NM_015080 NRXN2,NRXN2 EXON Missense_G154D,Missense_G154D exm923289 11 64480930 [T/A] NM_138732,NM_015080 NRXN2,NRXN2 EXON Missense_L81Q,Missense_L81Q exm923300 11 64496352 [T/C] NM_001098671,NM_001098670,NM_153819 RASGRP2,RASGRP2,RASGRP2 EXON Missense_R585Q,Missense_R585Q,Missense_R585Q exm2250129 11 64496357 [T/G] NM_001098671,NM_001098670,NM_153819 RASGRP2,RASGRP2,RASGRP2 EXON Synonymous_G583G,Synonymous_G583G,Synonymous_G583G exm923301 11 64496357 [T/G] NM_001098671,NM_001098670,NM_153819 RASGRP2,RASGRP2,RASGRP2 EXON Synonymous_G583G,Synonymous_G583G,Synonymous_G583G exm1727793 11 64496365 [A/G] NM_001098671,NM_001098670,NM_153819 RASGRP2,RASGRP2,RASGRP2 EXON Missense_R581C,Missense_R581C,Missense_R581C exm923303 11 64496388 [A/C] NM_001098671,NM_001098670,NM_153819 RASGRP2,RASGRP2,RASGRP2 EXON Missense_R573L,Missense_R573L,Missense_R573L exm923315 11 64497613 [C/G] NM_001098671,NM_001098670,NM_153819 RASGRP2,RASGRP2,RASGRP2 EXON Missense_S489C,Missense_S489C,Missense_S489C exm923323 11 64503043 [T/C] NM_001098671,NM_001098670,NM_153819 RASGRP2,RASGRP2,RASGRP2 EXON Missense_V423M,Missense_V423M,Missense_V423M exm923326 11 64503096 [A/G] NM_001098671,NM_001098670,NM_153819 RASGRP2,RASGRP2,RASGRP2 EXON Missense_P405L,Missense_P405L,Missense_P405L exm923333 11 64503391 [A/G] NM_001098671,NM_001098670,NM_153819 RASGRP2,RASGRP2,RASGRP2 EXON Missense_P386L,Missense_P386L,Missense_P386L exm923349 11 64504422 [A/G] NM_001098671,NM_001098670,NM_153819 RASGRP2,RASGRP2,RASGRP2 EXON Missense_R300C,Missense_R300C,Missense_R300C exm2250130 11 64504474 [T/C] NM_001098671,NM_001098670,NM_153819 RASGRP2,RASGRP2,RASGRP2 EXON Synonymous_A282A,Synonymous_A282A,Synonymous_A282A exm923369 11 64507504 [T/C] NM_001098671,NM_001098670,NM_153819 RASGRP2,RASGRP2,RASGRP2 EXON Missense_R168H,Missense_R168H,Missense_R168H exm923416 11 64514213 [T/C] NM_001164716,NM_005609 PYGM,PYGM EXON Missense_R728H,Missense_R816H exm923423 11 64514722 [A/C] NM_001164716,NM_005609 PYGM,PYGM EXON Missense_I674M,Missense_I762M exm2250131 11 64514809 [A/G] NM_001164716,NM_005609 PYGM,PYGM EXON Synonymous_Y645Y,Synonymous_Y733Y exm923436 11 64517947 [A/G] NM_001164716,NM_005609 PYGM,PYGM EXON Missense_M605T,Missense_M693T exm923441 11 64518016 [A/G] NM_001164716,NM_005609 PYGM,PYGM EXON Missense_A582V,Missense_A670V exm923443 11 64518809 [G/C] NM_001164716,NM_005609 PYGM,PYGM EXON Missense_L565V,Missense_L653V exm923445 11 64518841 [T/C] NM_001164716,NM_005609 PYGM,PYGM EXON Missense_R554H,Missense_R642H exm923446 11 64518842 [A/G] NM_001164716,NM_005609 PYGM,PYGM EXON Missense_R554C,Missense_R642C exm923450 11 64518878 [T/C] NM_001164716,NM_005609 PYGM,PYGM EXON Missense_V542M,Missense_V630M exm923451 11 64518881 [A/C] NM_001164716,NM_005609 PYGM,PYGM EXON Missense_D541Y,Missense_D629Y exm923453 11 64518896 [T/C] NM_001164716,NM_005609 PYGM,PYGM EXON Missense_V536I,Missense_V624I exm923456 11 64518907 [A/G] NM_001164716,NM_005609 PYGM,PYGM EXON Missense_I532T,Missense_I620T exm923460 11 64519109 [T/C] NM_001164716,NM_005609 PYGM,PYGM EXON Missense_N508S,Missense_N596S exm923473 11 64519958 [T/C] NM_001164716,NM_005609 PYGM,PYGM EXON Missense_I425V,Missense_I513V exm923477 11 64520571 [A/G] NM_001164716,NM_005609 PYGM,PYGM EXON Missense_P410S,Missense_P498S exm923484 11 64521031 [T/C] NM_001164716,NM_005609 PYGM,PYGM EXON Missense_G367S,Missense_G455S exm923498 11 64521154 [G/C] NM_001164716,NM_005609 PYGM,PYGM EXON Missense_R326G,Missense_R414G exm923499 11 64521353 [A/T] NM_001164716,NM_005609 PYGM,PYGM EXON Missense_N325Y,Missense_N413Y exm923501 11 64521406 [A/G] NM_001164716,NM_005609 PYGM,PYGM EXON Missense_T307M,Missense_T395M exm923505 11 64521430 [T/C] NM_001164716,NM_005609 PYGM,PYGM EXON Missense_R299H,Missense_R387H exm2219113 11 64521484 [A/G] NM_001164716,NM_005609 PYGM,PYGM EXON Missense_T281I,Missense_T369I exm923507 11 64521496 [A/G] NM_001164716,NM_005609 PYGM,PYGM EXON Missense_A277V,Missense_A365V exm923525 11 64522824 [T/C] NM_001164716,NM_005609 PYGM,PYGM EXON Missense_N171S,Missense_N259S exm923526 11 64522930 [T/A] NM_001164716,NM_005609 PYGM,PYGM EXON Missense_N166I,Missense_N254I exm-rs589691 11 64525216 [T/C] NM_001164716,NM_005609 PYGM,PYGM Silent,Silent exm923540 11 64525251 [T/C] NM_001164716,NM_005609 PYGM,PYGM EXON Synonymous_Q132Q,Synonymous_Q220Q exm923543 11 64525298 [T/C] NM_001164716,NM_005609 PYGM,PYGM EXON Missense_G117S,Missense_G205S exm923546 11 64525334 [A/C] NM_001164716,NM_005609 PYGM,PYGM EXON Missense_A105S,Missense_A193S exm923553 11 64525729 [T/C] NM_001164716,NM_005609 PYGM,PYGM EXON Missense_G85R,Missense_G173R exm923580 11 64527310 [T/C] NM_001164716,NM_005609 PYGM,PYGM EXON Missense_G21S,Missense_G21S exm923584 11 64532865 [A/G] NR_033650,NM_001178030,NM_201998,NM_201997,NM_001178031,NM_004630,NR_033649,NM_201995 SF1,SF1,SF1,SF1,SF1,SF1,SF1,SF1 EXON Silent,Silent,Silent,Missense_A571V,Silent,Silent,Silent,Missense_A638V exm923587 11 64532944 [A/C] NR_033650,NM_001178030,NM_201998,NM_201997,NM_001178031,NM_004630,NR_033649,NM_201995 SF1,SF1,SF1,SF1,SF1,SF1,SF1,SF1 EXON Silent,Synonymous_T668T,Synonymous_T543T,Missense_F545V,Silent,Silent,Silent,Missense_F612V exm923610 11 64534421 [A/G] NR_033650,NM_001178030,NM_201998,NM_201997,NM_001178031,NM_004630,NR_033649,NM_201995 SF1,SF1,SF1,SF1,SF1,SF1,SF1,SF1 EXON Silent,Synonymous_P636P,Synonymous_P511P,Missense_S513P,Synonymous_P485P,Synonymous_P511P,Silent,Synonymous_P511P exm923616 11 64534538 [T/C] NR_033650,NM_001178030,NM_201998,NM_201997,NM_001178031,NM_004630,NR_033649,NM_201995 SF1,SF1,SF1,SF1,SF1,SF1,SF1,SF1 EXON Silent,Synonymous_P597P,Synonymous_P472P,Missense_T474A,Synonymous_P446P,Synonymous_P472P,Silent,Synonymous_P472P exm923623 11 64535199 [T/C] NR_033650,NM_001178030,NM_201998,NM_201997,NM_001178031,NM_004630,NR_033649,NM_201995 SF1,SF1,SF1,SF1,SF1,SF1,SF1,SF1 EXON Silent,Missense_S521G,Missense_S396G,Missense_S396G,Missense_S370G,Missense_S396G,Silent,Missense_S396G exm923628 11 64535270 [A/C] NR_033650,NM_001178030,NM_201998,NM_201997,NM_001178031,NM_004630,NR_033649,NM_201995 SF1,SF1,SF1,SF1,SF1,SF1,SF1,SF1 EXON Silent,Missense_G497V,Missense_G372V,Missense_G372V,Missense_G346V,Missense_G372V,Silent,Missense_G372V exm-rs606458 11 64546391 [T/C] exm923670 11 64557051 [A/G] NM_004579 MAP4K2 EXON Synonymous_H807H exm-rs493573 11 64557054 [T/C] NM_004579 MAP4K2 EXON Synonymous_A806A exm923684 11 64557866 [A/G] NM_004579 MAP4K2 EXON Missense_R721C exm923686 11 64559402 [A/G] NM_004579 MAP4K2 EXON Missense_P691S exm923689 11 64559429 [T/C] NM_004579 MAP4K2 EXON Missense_V682I exm923700 11 64559669 [A/G] NM_004579 MAP4K2 EXON Missense_P630L exm923703 11 64559847 [T/C] NM_004579 MAP4K2 EXON Missense_Q600R exm923724 11 64564174 [A/C] NM_004579 MAP4K2 EXON Missense_V502L exm923738 11 64564625 [A/G] NM_004579 MAP4K2 EXON Missense_P439L exm923742 11 64564752 [A/G] NM_004579 MAP4K2 EXON Missense_P424L exm923746 11 64564814 [A/C] NM_004579 MAP4K2 EXON Missense_K403N exm923750 11 64564992 [T/C] NM_004579 MAP4K2 EXON Missense_R384Q exm923762 11 64566893 [T/C] NM_004579 MAP4K2 EXON Synonymous_P351P exm923803 11 64569546 [A/C] NM_004579 MAP4K2 EXON Missense_A120S exm923806 11 64569572 [C/G] NM_004579 MAP4K2 EXON Missense_R111P exm923831 11 64572104 [A/G] NM_130803,NM_130804,NM_130801,NM_130802,NM_000244,NM_130799,NM_130800 MEN1,MEN1,MEN1,MEN1,MEN1,MEN1,MEN1 EXON Missense_S517L,Missense_S517L,Missense_S517L,Missense_S517L,Missense_S517L,Missense_S512L,Missense_S517L exm2219123 11 64573193 [T/C] NM_130803,NM_130804,NM_130801,NM_130802,NM_000244,NM_130799,NM_130800 MEN1,MEN1,MEN1,MEN1,MEN1,MEN1,MEN1 EXON Missense_V372I,Missense_V372I,Missense_V372I,Missense_V372I,Missense_V372I,Missense_V367I,Missense_V372I exm923865 11 64575454 [A/G] NM_130803,NM_130804,NM_130801,NM_130802,NM_000244,NM_130799,NM_130800 MEN1,MEN1,MEN1,MEN1,MEN1,MEN1,MEN1 EXON Missense_P193L,Missense_P193L,Missense_P193L,Missense_P193L,Missense_P193L,Missense_P188L,Missense_P193L exm923868 11 64575505 [T/C] NM_130803,NM_130804,NM_130801,NM_130802,NM_000244,NM_130799,NM_130800 MEN1,MEN1,MEN1,MEN1,MEN1,MEN1,MEN1 EXON Missense_R176Q,Missense_R176Q,Missense_R176Q,Missense_R176Q,Missense_R176Q,Missense_R171Q,Missense_R176Q exm923869 11 64575506 [A/G] NM_130803,NM_130804,NM_130801,NM_130802,NM_000244,NM_130799,NM_130800 MEN1,MEN1,MEN1,MEN1,MEN1,MEN1,MEN1 EXON Missense_R176W,Missense_R176W,Missense_R176W,Missense_R176W,Missense_R176W,Missense_R171W,Missense_R176W exm923900 11 64594586 [T/C] NM_017525 CDC42BPG EXON Missense_N1442S exm923944 11 64597201 [A/G] NM_017525 CDC42BPG EXON Missense_R1237W exm923949 11 64597261 [A/G] NM_017525 CDC42BPG EXON Missense_R1217C exm923951 11 64597279 [T/C] NM_017525 CDC42BPG EXON Missense_G1211S exm923955 11 64597330 [T/C] NM_017525 CDC42BPG EXON Missense_V1194M exm923966 11 64597506 [T/C] NM_017525 CDC42BPG EXON Missense_Q1135R exm923983 11 64599049 [T/C] NM_017525 CDC42BPG EXON Missense_V1078M exm923984 11 64599069 [A/G] NM_017525 CDC42BPG EXON Missense_A1071V exm923989 11 64599139 [T/C] NM_017525 CDC42BPG EXON Missense_A1048T exm924001 11 64600134 [T/C] NM_017525 CDC42BPG EXON Missense_A983T exm924003 11 64600176 [T/C] NM_017525 CDC42BPG EXON Missense_V969M exm924007 11 64600299 [A/G] NM_017525 CDC42BPG EXON Missense_S955L exm924016 11 64600723 [T/C] NM_017525 CDC42BPG EXON Missense_R904H exm1728116 11 64601227 [A/G] NM_017525 CDC42BPG EXON Missense_R850C exm924027 11 64601238 [A/G] NM_017525 CDC42BPG EXON Missense_P846L exm924031 11 64601271 [T/G] NM_017525 CDC42BPG EXON Missense_A835D exm924033 11 64601440 [A/G] NM_017525 CDC42BPG EXON Missense_P808L exm924036 11 64601768 [A/G] NM_017525 CDC42BPG EXON Missense_R795W exm924047 11 64602326 [T/G] NM_017525 CDC42BPG EXON Missense_P724T exm924054 11 64602568 [A/G] NM_017525 CDC42BPG EXON Missense_R671W exm924061 11 64602844 [T/C] NM_017525 CDC42BPG EXON Missense_R643Q exm924073 11 64603274 [T/C] NM_017525 CDC42BPG EXON Missense_G573E exm924074 11 64603286 [A/G] NM_017525 CDC42BPG EXON Missense_T569M exm2219129 11 64603647 [T/G] NM_017525 CDC42BPG EXON Missense_A537D exm924086 11 64603924 [T/C] NM_017525 CDC42BPG EXON Missense_R488Q exm924087 11 64603925 [A/G] NM_017525 CDC42BPG EXON Missense_R488W exm924089 11 64603969 [A/G] NM_017525 CDC42BPG EXON Missense_T473M exm924091 11 64603986 [G/C] NM_017525 CDC42BPG EXON Missense_K467N exm924092 11 64604002 [T/G] NM_017525 CDC42BPG EXON Missense_E462A exm924096 11 64604225 [T/C] NM_017525 CDC42BPG EXON Missense_R457Q exm924099 11 64604264 [T/C] NM_017525 CDC42BPG EXON Missense_R444Q exm924103 11 64604422 [C/G] NM_017525 CDC42BPG EXON Missense_E425D exm924114 11 64605621 [A/G] NM_017525 CDC42BPG EXON Missense_P380L exm924119 11 64606167 [T/G] NM_017525 CDC42BPG EXON Missense_T362P exm924123 11 64606233 [T/C] NM_017525 CDC42BPG EXON Missense_V340M exm924130 11 64606313 [T/C] NM_017525 CDC42BPG EXON Missense_R313H exm924145 11 64606994 [T/G] NM_017525 CDC42BPG EXON Missense_L211M exm924147 11 64607024 [T/C] NM_017525 CDC42BPG EXON Missense_V201I exm2276187 11 64607663 [G/C] NM_017525 CDC42BPG EXON Missense_E170D exm1728180 11 64607663 [T/C] NM_017525 CDC42BPG EXON Synonymous_E170E exm924152 11 64607665 [C/G] NM_017525 CDC42BPG EXON Missense_E170Q exm924154 11 64607670 [A/G] NM_017525 CDC42BPG EXON Missense_P168L exm924157 11 64607707 [C/G] NM_017525 CDC42BPG EXON Missense_L156V exm2250137 11 64609200 [A/G] NM_017525 CDC42BPG EXON Synonymous_T86T exm924189 11 64622073 [A/G] NM_006795 EHD1 EXON Missense_P446L exm924205 11 64622242 [T/C] NM_006795 EHD1 EXON Missense_I390V exm1728216 11 64622327 [T/G] NM_006795 EHD1 EXON Missense_E361D exm924215 11 64622843 [T/C] NM_006795 EHD1 EXON Missense_R344H exm924216 11 64622868 [T/C] NM_006795 EHD1 EXON Missense_G336R exm2250138 11 64622869 [G/C] NM_006795 EHD1 EXON Synonymous_L335L exm2219132 11 64645671 [T/C] NM_006795 EHD1 EXON Missense_G89E exm924307 11 64662575 [A/G] NM_015104 ATG2A EXON Missense_T1896I exm924327 11 64662850 [A/T] NM_015104 ATG2A EXON Missense_D1831V exm924330 11 64662869 [T/C] NM_015104 ATG2A EXON Missense_V1825I exm2250140 11 64664774 [T/C] NM_015104 ATG2A Silent exm924355 11 64664930 [A/G] NM_015104 ATG2A EXON Missense_L1702F exm924364 11 64665438 [T/C] NM_015104 ATG2A EXON Missense_E1623K exm924367 11 64665585 [C/G] NM_015104 ATG2A EXON Missense_V1611L exm924371 11 64665815 [A/T] NM_015104 ATG2A EXON Missense_H1564L exm924374 11 64666179 [A/G] NM_015104 ATG2A EXON Missense_S1534P exm2219134 11 64666286 [A/G] NM_015104 ATG2A EXON Missense_A1498V exm924400 11 64668492 [A/G] NM_015104 ATG2A EXON Missense_R1398W exm924408 11 64669448 [T/C] NM_015104 ATG2A EXON Missense_G1369S exm924429 11 64669794 [T/C] NM_015104 ATG2A EXON Missense_R1281H exm924433 11 64669850 [C/G] NM_015104 ATG2A EXON Missense_E1262D exm924434 11 64669854 [A/G] NM_015104 ATG2A EXON Missense_S1261L exm924439 11 64670130 [T/C] NM_015104 ATG2A EXON Missense_R1212H exm924446 11 64671067 [T/C] NM_015104 ATG2A EXON Missense_R1177Q exm924461 11 64673278 [A/G] NM_015104 ATG2A EXON Missense_Y1103H exm924473 11 64673882 [T/C] NM_015104 ATG2A EXON Missense_R1036H exm924476 11 64673907 [T/C] NM_015104 ATG2A EXON Missense_V1028M exm924493 11 64674834 [T/C] NM_015104 ATG2A EXON Missense_G909S exm924498 11 64675074 [A/G] NM_015104 ATG2A EXON Missense_A857V exm924499 11 64675075 [T/C] NM_015104 ATG2A EXON Missense_A857T exm2274497 11 64675078 [T/C] NM_015104 ATG2A EXON Missense_A856T exm924512 11 64676569 [A/G] NM_015104 ATG2A EXON Missense_P753L exm2274498 11 64676751 [G/C] NM_015104 ATG2A EXON Missense_F732L exm924520 11 64676797 [T/C] NM_015104 ATG2A EXON Missense_R717H exm924527 11 64677218 [T/C] NM_015104 ATG2A EXON Missense_E681G exm924529 11 64677270 [T/C] NM_015104 ATG2A EXON Missense_V664M exm924537 11 64677324 [A/G] NM_015104 ATG2A EXON Missense_R646C exm924540 11 64677368 [T/C] NM_015104 ATG2A EXON Missense_Q631R exm924541 11 64677380 [A/G] NM_015104 ATG2A EXON Missense_A627V exm924557 11 64678098 [T/C] NM_015104 ATG2A EXON Missense_R566H exm924560 11 64678109 [C/G] NM_015104 ATG2A EXON Missense_Q562H exm1728352 11 64678544 [A/G] NM_015104 ATG2A EXON Missense_R478C exm924589 11 64679331 [A/G] NM_015104 ATG2A EXON Missense_A404V exm924591 11 64679356 [T/C] NM_015104 ATG2A EXON Missense_D396N exm924611 11 64680766 [T/C] NM_015104 ATG2A EXON Missense_R233H exm924617 11 64680848 [A/G] NM_015104 ATG2A EXON Missense_R206W exm924621 11 64681338 [A/G] NM_015104 ATG2A EXON Missense_P182L exm924623 11 64681360 [T/C] NM_015104 ATG2A EXON Missense_V175I exm924671 11 64697985 [T/C] NM_006244 PPP2R5B EXON Missense_T272M exm924673 11 64698011 [A/G] NM_006244 PPP2R5B EXON Missense_V281I exm924676 11 64698961 [T/C] NM_006244 PPP2R5B EXON Synonymous_H315H exm924695 11 64701185 [A/C] NM_006244 PPP2R5B EXON Missense_Q455K exm924702 11 64702253 [A/G] NM_130769 GPHA2 EXON Missense_R128C exm924705 11 64702291 [A/G] NM_130769 GPHA2 EXON Missense_T115M exm924711 11 64702347 [T/C] NM_130769 GPHA2 Silent exm924713 11 64702461 [A/G] NM_130769 GPHA2 Silent exm924715 11 64702546 [A/G] NM_130769 GPHA2 EXON Missense_R69W exm924744 11 64717214 [A/C] NM_001037225 C11orf85 Silent exm924749 11 64717259 [G/C] NM_001037225 C11orf85 EXON Missense_T102S exm924785 11 64756977 [T/C] NM_138456 BATF2 EXON Missense_Q150R exm924791 11 64757182 [A/G] NM_138456 BATF2 EXON Missense_R82C exm924792 11 64757186 [T/A] NM_138456 BATF2 EXON Missense_H80Q exm924793 11 64757191 [T/C] NM_138456 BATF2 EXON Missense_V79M exm924799 11 64761922 [A/G] NM_138456 BATF2 EXON Nonsense_Q47X exm924811 11 64764371 [T/C] NM_138456 BATF2 EXON Missense_G6S exm924818 11 64785880 [A/G] NM_001199745,NR_037650,NM_001667 ARL2,ARL2-SNX15,ARL2 EXON Missense_N37S,Silent,Missense_N37S exm924822 11 64785943 [A/G] NM_001199745,NR_037650,NM_001667 ARL2,ARL2-SNX15,ARL2 EXON Missense_R58Q,Silent,Missense_R58Q exm924830 11 64787935 [A/C] NM_001199745,NR_037650,NM_001667 ARL2,ARL2-SNX15,ARL2 EXON Silent,Silent,Missense_D128E exm924834 11 64787966 [T/C] NM_001199745,NR_037650,NM_001667 ARL2,ARL2-SNX15,ARL2 EXON Silent,Silent,Missense_R139C exm924852 11 64795017 [T/G] NR_037650,NM_147777,NM_013306 ARL2-SNX15,SNX15,SNX15 EXON Silent,Missense_R3L,Missense_R3L exm924860 11 64799933 [A/C] NR_037650,NM_147777,NM_013306 ARL2-SNX15,SNX15,SNX15 EXON Silent,Missense_R56S,Missense_R56S exm924861 11 64799967 [A/G] NR_037650,NM_147777,NM_013306 ARL2-SNX15,SNX15,SNX15 EXON Silent,Missense_R67H,Missense_R67H exm924868 11 64802337 [T/G] NR_037650,NM_147777,NM_013306 ARL2-SNX15,SNX15,SNX15 EXON Silent,Missense_V92G,Missense_V92G exm924871 11 64802376 [A/G] NR_037650,NM_147777,NM_013306 ARL2-SNX15,SNX15,SNX15 EXON Silent,Missense_R105H,Missense_R105H exm924873 11 64802388 [A/C] NR_037650,NM_147777,NM_013306 ARL2-SNX15,SNX15,SNX15 EXON Silent,Missense_H109P,Missense_H109P exm924885 11 64803001 [T/C] NR_037650,NM_147777,NM_013306 ARL2-SNX15,SNX15,SNX15 EXON Silent,Missense_P177L,Missense_P177L exm924889 11 64803057 [A/G] NR_037650,NM_147777,NM_013306 ARL2-SNX15,SNX15,SNX15 EXON Silent,Missense_E196K,Missense_E196K exm924890 11 64803081 [G/C] NR_037650,NM_147777,NM_013306 ARL2-SNX15,SNX15,SNX15 EXON Silent,Missense_R204G,Missense_R204G exm924891 11 64803082 [A/G] NR_037650,NM_147777,NM_013306 ARL2-SNX15,SNX15,SNX15 EXON Silent,Missense_R204Q,Missense_R204Q exm1728536 11 64806049 [A/G] NR_037650,NM_147777,NM_013306 ARL2-SNX15,SNX15,SNX15 EXON Silent,Silent,Missense_A224T exm1728537 11 64806190 [G/C] NR_037650,NM_147777,NM_013306 ARL2-SNX15,SNX15,SNX15 EXON Silent,Silent,Missense_Q271E exm924906 11 64806265 [T/C] NR_037650,NM_147777,NM_013306 ARL2-SNX15,SNX15,SNX15 EXON Silent,Silent,Nonsense_R296X exm924913 11 64807176 [A/G] NR_037650,NM_147777,NM_013306 ARL2-SNX15,SNX15,SNX15 EXON Silent,Missense_R228H,Missense_R314H exm924918 11 64807236 [A/G] NR_037650,NM_147777,NM_013306 ARL2-SNX15,SNX15,SNX15 EXON Silent,Missense_R248H,Missense_R334H exm924934 11 64809044 [T/C] NM_013299 SAC3D1 EXON Missense_R94C exm924960 11 64811900 [T/C] NM_013299 SAC3D1 EXON Missense_R260C exm924966 11 64811951 [T/A] NM_013299 SAC3D1 EXON Missense_F277I exm924968 11 64811994 [A/G] NM_013299 SAC3D1 EXON Missense_R291Q exm924976 11 64812155 [A/G] NM_013299 SAC3D1 EXON Missense_E345K exm924982 11 64812777 [A/G] NM_005468 NAALADL1 EXON Missense_A730V exm924992 11 64813304 [A/G] NM_005468 NAALADL1 EXON Missense_R676C exm924993 11 64813307 [T/C] NM_005468 NAALADL1 EXON Missense_E675K exm924994 11 64813314 [G/C] NM_005468 NAALADL1 EXON Missense_F672L exm924996 11 64813340 [A/G] NM_005468 NAALADL1 EXON Missense_R664W exm924998 11 64813384 [C/G] NM_005468 NAALADL1 EXON Missense_P649R exm925000 11 64813504 [T/G] NM_005468 NAALADL1 EXON Missense_S646R exm925006 11 64813685 [C/G] NM_005468 NAALADL1 EXON Missense_L611V exm925011 11 64813762 [A/G] NM_005468 NAALADL1 EXON Missense_L585P exm925013 11 64813784 [A/G] NM_005468 NAALADL1 EXON Missense_R578W exm925021 11 64813994 [T/C] NM_005468 NAALADL1 EXON Missense_K535R exm925026 11 64815038 [T/C] NM_005468 NAALADL1 Silent exm925029 11 64815138 [T/C] NM_005468 NAALADL1 EXON Missense_V497M exm925036 11 64815490 [A/G] NM_005468 NAALADL1 EXON Missense_P460L exm925039 11 64815499 [T/G] NM_005468 NAALADL1 EXON Missense_Q457P exm925042 11 64815505 [G/C] NM_005468 NAALADL1 EXON Missense_R455T exm925047 11 64815794 [A/G] NM_005468 NAALADL1 EXON Missense_I421T exm2219150 11 64815802 [T/A] NM_005468 NAALADL1 EXON Missense_F418L exm925048 11 64815816 [T/C] NM_005468 NAALADL1 EXON Missense_G414R exm925053 11 64820695 [T/G] NM_005468 NAALADL1 EXON Missense_K398T exm1728560 11 64820735 [T/C] NM_005468 NAALADL1 EXON Missense_V385I exm925054 11 64820738 [T/C] NM_005468 NAALADL1 EXON Missense_A384T exm925063 11 64821720 [A/G] NM_005468 NAALADL1 Silent exm925070 11 64821766 [A/C] NM_005468 NAALADL1 EXON Missense_R316S exm925075 11 64821826 [A/T] NM_005468 NAALADL1 EXON Nonsense_C296X exm1728566 11 64822078 [A/G] NM_005468 NAALADL1 EXON Nonsense_R246X exm2250143 11 64822127 [A/G] NM_005468 NAALADL1 EXON Synonymous_P229P exm925087 11 64822127 [A/G] NM_005468 NAALADL1 EXON Synonymous_P229P exm925088 11 64822153 [T/C] NM_005468 NAALADL1 EXON Missense_D221N exm925090 11 64822182 [A/G] NM_005468 NAALADL1 EXON Missense_A211V exm1728568 11 64822188 [T/C] NM_005468 NAALADL1 EXON Missense_G209E exm925099 11 64824943 [T/C] NM_005468 NAALADL1 EXON Missense_R168Q exm925117 11 64825599 [T/A] NM_005468 NAALADL1 EXON Missense_E103D exm925118 11 64825601 [T/C] NM_005468 NAALADL1 EXON Missense_E103K exm925124 11 64825821 [T/C] NM_005468 NAALADL1 EXON Missense_R58Q exm925125 11 64825822 [A/G] NM_005468 NAALADL1 EXON Missense_R58W exm925126 11 64825877 [T/G] NM_005468 NAALADL1 EXON Missense_D39E exm925146 11 64846836 [A/G] NM_080668 CDCA5 EXON Missense_P223S exm925157 11 64846968 [T/C] NM_080668 CDCA5 EXON Missense_G179R exm2219151 11 64847085 [T/C] NM_080668 CDCA5 EXON Missense_K140E exm925164 11 64847136 [T/C] NM_080668 CDCA5 EXON Missense_E123K exm925199 11 64854012 [A/G] NM_006782 ZFPL1 EXON Missense_V114M exm925205 11 64854195 [A/G] NM_006782 ZFPL1 EXON Missense_D138N exm925210 11 64854229 [A/G] NM_006782 ZFPL1 EXON Missense_N149S exm925214 11 64854466 [A/C] NM_006782 ZFPL1 EXON Missense_A183D exm925219 11 64854545 [T/C] NM_006782 ZFPL1 EXON Synonymous_H209H exm925223 11 64854805 [A/G] NM_006782 ZFPL1 EXON Missense_D216N exm925224 11 64854812 [A/G] NM_006782 ZFPL1 EXON Missense_R218Q exm925225 11 64854824 [A/G] NM_006782 ZFPL1 EXON Missense_R222Q exm925231 11 64854875 [T/C] NM_006782 ZFPL1 EXON Missense_P239L exm925237 11 64855447 [T/C] NM_006782 ZFPL1 EXON Missense_A265V exm925239 11 64855507 [A/G] NM_006782 ZFPL1 EXON Missense_R285H exm925278 11 64875466 [A/C] NR_073519,NM_013265 VPS51,VPS51 EXON Silent,Missense_L233M exm925300 11 64876307 [A/G] NR_073519,NM_013265 VPS51,VPS51 EXON Silent,Missense_S455N exm925301 11 64876313 [T/C] NR_073519,NM_013265 VPS51,VPS51 EXON Silent,Missense_I457T exm925308 11 64876819 [T/C] NR_073519,NM_013265 VPS51,VPS51 EXON Silent,Missense_T504M exm1728636 11 64876923 [A/G] NR_073519,NM_013265 VPS51,VPS51 EXON Silent,Missense_I539V exm925316 11 64877193 [T/C] NR_073519,NM_013265 VPS51,VPS51 EXON Silent,Missense_T559M exm1728638 11 64877235 [A/G] NR_073519,NM_013265 VPS51,VPS51 EXON Silent,Missense_R573Q exm925339 11 64877978 [A/G] NR_073519,NM_013265 VPS51,VPS51 EXON Silent,Missense_V635I exm925342 11 64878063 [A/G] NR_073519,NM_013265 VPS51,VPS51 EXON Silent,Missense_S663N exm925344 11 64878234 [C/G] NR_073519,NM_013265 VPS51,VPS51 EXON Silent,Missense_S690T exm925369 11 64880743 [T/C] NM_003273 TM7SF2 EXON Missense_A119V exm925371 11 64880767 [T/C] NM_003273 TM7SF2 EXON Missense_P127L exm925382 11 64882228 [A/G] NM_003273 TM7SF2 EXON Missense_R216Q exm925387 11 64882391 [A/G] NM_003273 TM7SF2 EXON Missense_V244I exm925388 11 64882406 [T/G] NM_003273 TM7SF2 EXON Missense_D249Y exm925390 11 64882421 [A/G] NM_003273 TM7SF2 EXON Missense_G254R exm925396 11 64882506 [T/C] NM_003273 TM7SF2 EXON Missense_P282L exm925398 11 64882789 [T/C] NM_003273 TM7SF2 EXON Missense_T299I exm925402 11 64882837 [A/G] NM_003273 TM7SF2 EXON Missense_R315Q exm925416 11 64883437 [A/G] NM_003273 TM7SF2 EXON Missense_D390G exm1728665 11 64883976 [A/G] NM_014205 ZNHIT2 EXON Missense_R384W exm925435 11 64884116 [T/C] NM_014205 ZNHIT2 EXON Missense_R337Q exm925439 11 64884131 [T/C] NM_014205 ZNHIT2 EXON Missense_H332R exm925445 11 64884252 [A/G] NM_014205 ZNHIT2 EXON Missense_R292C exm925452 11 64884362 [T/C] NM_014205 ZNHIT2 EXON Missense_Q255R exm925468 11 64884620 [T/G] NM_014205 ZNHIT2 EXON Missense_A169D exm925471 11 64884653 [A/G] NM_014205 ZNHIT2 EXON Missense_P158L exm925472 11 64884663 [T/C] NM_014205 ZNHIT2 EXON Missense_E155K exm2250145 11 64884936 [A/G] NM_014205 ZNHIT2 EXON Synonymous_L64L exm2219159 11 64884938 [T/C] NM_014205 ZNHIT2 EXON Missense_R63H exm925495 11 64888987 [A/C] NM_001997 FAU EXON Missense_G69C exm2219160 11 64889843 [A/G] NR_037567,NM_004927,NR_037568 MRPL49,MRPL49,MRPL49 EXON Silent,Missense_T9A,Silent exm925514 11 64891972 [A/G] NR_037567,NM_004927,NR_037568 MRPL49,MRPL49,MRPL49 Silent,Silent,Silent exm925518 11 64892043 [T/C] NR_037567,NM_004927,NR_037568 MRPL49,MRPL49,MRPL49 EXON Silent,Missense_R50C,Silent exm2274499 11 64893046 [A/C] NR_037567,NM_004927,NR_037568 MRPL49,MRPL49,MRPL49 EXON Silent,Missense_Q106K,Silent exm925529 11 64893232 [T/C] NR_037567,NM_004927,NR_037568 MRPL49,MRPL49,MRPL49 EXON Silent,Missense_P130L,Silent exm925535 11 64895889 [A/G] NM_032431,NM_172230 SYVN1,SYVN1 EXON Missense_R606C,Missense_R607C exm925540 11 64896121 [T/G] NM_032431,NM_172230 SYVN1,SYVN1 EXON Missense_A553D,Missense_A554D exm925556 11 64897292 [T/C] NM_032431,NM_172230 SYVN1,SYVN1 EXON Missense_A501T,Missense_A502T exm925564 11 64897482 [A/G] NM_032431,NM_172230 SYVN1,SYVN1 EXON Missense_P466L,Missense_P467L exm925565 11 64897510 [T/G] NM_032431,NM_172230 SYVN1,SYVN1 EXON Missense_P457T,Missense_P458T exm1728708 11 64897569 [T/G] NM_032431,NM_172230 SYVN1,SYVN1 EXON Missense_S437Y,Missense_S438Y exm925568 11 64897627 [G/C] NM_032431,NM_172230 SYVN1,SYVN1 EXON Missense_G418R,Missense_G419R exm925582 11 64898200 [A/G] NM_032431,NM_172230 SYVN1,SYVN1 EXON Missense_P346L,Missense_P346L exm925586 11 64898255 [T/G] NM_032431,NM_172230 SYVN1,SYVN1 EXON Missense_T328P,Missense_T328P exm2219165 11 64902002 [A/C] NM_032431,NM_172230 SYVN1,SYVN1 EXON Silent,Silent exm925630 11 64937708 [T/C] NM_001008778 SPDYC EXON Missense_M1T exm925648 11 64939441 [T/C] NM_001008778 SPDYC EXON Missense_S76F exm925656 11 64939922 [T/C] NM_001008778 SPDYC EXON Missense_M121T exm925662 11 64940033 [A/G] NM_001008778 SPDYC EXON Missense_R158Q exm925667 11 64940200 [T/C] NM_001008778 SPDYC EXON Missense_R188C exm925672 11 64940257 [T/C] NM_001008778 SPDYC EXON Missense_R207W exm925687 11 64940675 [A/G] NM_001008778 SPDYC EXON Missense_R290H exm925700 11 64950393 [A/G] NM_001198868,NM_001198869,NR_040008,NM_005186 CAPN1,CAPN1,CAPN1,CAPN1 EXON Missense_G74D,Missense_G74D,Silent,Missense_G74D exm925701 11 64950441 [T/C] NM_001198868,NM_001198869,NR_040008,NM_005186 CAPN1,CAPN1,CAPN1,CAPN1 Silent,Silent,Silent,Silent exm925702 11 64950638 [A/G] NM_001198868,NM_001198869,NR_040008,NM_005186 CAPN1,CAPN1,CAPN1,CAPN1 EXON Missense_T103A,Missense_T103A,Silent,Missense_T103A exm925703 11 64950642 [A/G] NM_001198868,NM_001198869,NR_040008,NM_005186 CAPN1,CAPN1,CAPN1,CAPN1 EXON Missense_R104H,Missense_R104H,Silent,Missense_R104H exm925711 11 64953448 [A/G] NM_001198868,NM_001198869,NR_040008,NM_005186 CAPN1,CAPN1,CAPN1,CAPN1 EXON Missense_G173R,Missense_G173R,Silent,Missense_G173R exm925723 11 64953809 [T/C] NM_001198868,NM_001198869,NR_040008,NM_005186 CAPN1,CAPN1,CAPN1,CAPN1 EXON Synonymous_D253D,Synonymous_D253D,Silent,Synonymous_D253D exm925734 11 64956089 [T/C] NM_001198868,NM_001198869,NR_040008,NM_005186 CAPN1,CAPN1,CAPN1,CAPN1 EXON Missense_T346I,Missense_T346I,Silent,Missense_T346I exm925735 11 64956091 [T/C] NM_001198868,NM_001198869,NR_040008,NM_005186 CAPN1,CAPN1,CAPN1,CAPN1 EXON Missense_R347C,Missense_R347C,Silent,Missense_R347C exm2250146 11 64956204 [T/C] NM_001198868,NM_001198869,NR_040008,NM_005186 CAPN1,CAPN1,CAPN1,CAPN1 EXON Synonymous_C384C,Synonymous_C384C,Silent,Synonymous_C384C exm925747 11 64972286 [G/C] NM_001198868,NM_001198869,NR_040008,NM_005186 CAPN1,CAPN1,CAPN1,CAPN1 EXON Missense_R433P,Missense_R433P,Silent,Missense_R433P exm925760 11 64973998 [T/G] NM_001198868,NM_001198869,NR_040008,NM_005186 CAPN1,CAPN1,CAPN1,CAPN1 EXON Missense_R473L,Missense_R473L,Silent,Missense_R473L exm925762 11 64974054 [A/G] NM_001198868,NM_001198869,NR_040008,NM_005186 CAPN1,CAPN1,CAPN1,CAPN1 EXON Missense_G492R,Missense_G492R,Silent,Missense_G492R exm925765 11 64974282 [T/C] NM_001198868,NM_001198869,NR_040008,NM_005186 CAPN1,CAPN1,CAPN1,CAPN1 EXON Missense_P533S,Missense_P533S,Silent,Missense_P533S exm925772 11 64975703 [T/C] NM_001198868,NM_001198869,NR_040008,NM_005186 CAPN1,CAPN1,CAPN1,CAPN1 EXON Missense_R567W,Missense_R567W,Silent,Missense_R567W exm1728779 11 64976806 [A/G] NM_001198868,NM_001198869,NR_040008,NM_005186 CAPN1,CAPN1,CAPN1,CAPN1 EXON Missense_R581Q,Missense_R581Q,Silent,Missense_R581Q exm925778 11 64976845 [T/C] NM_001198868,NM_001198869,NR_040008,NM_005186 CAPN1,CAPN1,CAPN1,CAPN1 EXON Missense_V594A,Missense_V594A,Silent,Missense_V594A exm925781 11 64977354 [T/G] NM_001198868,NM_001198869,NR_040008,NM_005186 CAPN1,CAPN1,CAPN1,CAPN1 EXON Missense_F610C,Missense_F610C,Silent,Missense_F610C exm925790 11 64977890 [A/G] NM_001198868,NM_001198869,NR_040008,NM_005186 CAPN1,CAPN1,CAPN1,CAPN1 EXON Missense_V676I,Missense_V676I,Silent,Missense_V676I exm925798 11 64981366 [T/C] NM_001004326,NR_033396 SLC22A20,SLC22A20 EXON Missense_L8P,Silent exm925800 11 64981392 [T/C] NM_001004326,NR_033396 SLC22A20,SLC22A20 EXON Missense_R17C,Silent exm925805 11 64981522 [A/C] NM_001004326,NR_033396 SLC22A20,SLC22A20 EXON Missense_A60D,Silent exm925809 11 64981587 [A/G] NM_001004326,NR_033396 SLC22A20,SLC22A20 EXON Missense_E82K,Silent exm925821 11 64981837 [T/C] NM_001004326,NR_033396 SLC22A20,SLC22A20 EXON Missense_A141V,Silent exm925822 11 64981853 [T/G] NM_001004326,NR_033396 SLC22A20,SLC22A20 EXON Missense_M146I,Silent exm925831 11 64985059 [A/G] NM_001004326,NR_033396 SLC22A20,SLC22A20 EXON Missense_G180E,Silent exm925836 11 64985107 [A/G] NM_001004326,NR_033396 SLC22A20,SLC22A20 EXON Missense_R196Q,Silent exm925848 11 64990031 [T/C] NM_001004326,NR_033396 SLC22A20,SLC22A20 EXON Missense_R243W,Silent exm925849 11 64990041 [G/C] NM_001004326,NR_033396 SLC22A20,SLC22A20 EXON Missense_G246A,Silent exm925851 11 64990068 [A/G] NM_001004326,NR_033396 SLC22A20,SLC22A20 Silent,Silent exm925894 11 65029776 [T/G] NM_002689 POLA2 EXON Missense_A5S exm925895 11 65029777 [T/C] NM_002689 POLA2 EXON Missense_A5V exm925904 11 65034140 [T/G] NM_002689 POLA2 EXON Missense_G56V exm925907 11 65034954 [A/G] NM_002689 POLA2 EXON Missense_S71G exm925920 11 65046262 [A/G] NM_002689 POLA2 EXON Missense_G175S exm925923 11 65047038 [A/T] NM_002689 POLA2 EXON Missense_S229C exm925930 11 65048535 [A/G] NM_002689 POLA2 EXON Missense_E273K exm925940 11 65055190 [T/C] NM_002689 POLA2 EXON Missense_F337S exm925950 11 65057319 [A/G] NM_002689 POLA2 EXON Missense_R407Q exm925952 11 65061667 [T/C] NM_002689 POLA2 EXON Missense_H430Y exm925953 11 65061679 [G/C] NM_002689 POLA2 EXON Missense_V434L exm925965 11 65062110 [A/G] NM_002689 POLA2 EXON Missense_E483K exm925968 11 65063054 [T/A] NM_002689 POLA2 EXON Missense_I502F exm925986 11 65064690 [A/G] NM_002689 POLA2 EXON Missense_G583R exm925987 11 65064706 [A/G] NM_002689 POLA2 EXON Missense_S588N exm925991 11 65088433 [T/C] NM_006779 CDC42EP2 EXON Missense_R22W exm925997 11 65088508 [A/G] NM_006779 CDC42EP2 EXON Missense_G47S exm926023 11 65088844 [T/C] NM_006779 CDC42EP2 EXON Missense_P159S exm926029 11 65088896 [A/G] NM_006779 CDC42EP2 EXON Missense_N176S exm926030 11 65088922 [A/G] NM_006779 CDC42EP2 EXON Missense_V185M exm926049 11 65108529 [A/C] NM_006268 DPF2 EXON Missense_P96T exm926092 11 65123590 [A/G] NM_145719 TIGD3 EXON Missense_H104R exm926108 11 65123754 [A/C] NM_145719 TIGD3 EXON Missense_Q159K exm926114 11 65123905 [A/G] NM_145719 TIGD3 EXON Missense_R209Q exm926121 11 65124057 [T/C] NM_145719 TIGD3 EXON Nonsense_Q260X exm926131 11 65124408 [A/G] NM_145719 TIGD3 EXON Missense_T377A exm926144 11 65143892 [A/G] NM_001077241,NM_182556 SLC25A45,SLC25A45 EXON Missense_R243C,Missense_R285C exm926148 11 65143993 [T/C] NM_001077241,NM_182556 SLC25A45,SLC25A45 EXON Missense_R209Q,Missense_R251Q exm926150 11 65144038 [T/C] NM_001077241,NM_182556 SLC25A45,SLC25A45 EXON Missense_R194H,Missense_R236H exm926151 11 65144048 [T/C] NM_001077241,NM_182556 SLC25A45,SLC25A45 EXON Missense_G191R,Missense_G233R exm926153 11 65144075 [T/C] NM_001077241,NM_182556 SLC25A45,SLC25A45 EXON Missense_M182V,Missense_M224V exm926158 11 65144366 [A/T] NM_001077241,NM_182556 SLC25A45,SLC25A45 EXON Missense_D132V,Missense_D174V exm926170 11 65146887 [A/G] NM_001077241,NM_182556 SLC25A45,SLC25A45 EXON Missense_M58T,Missense_M100T exm1728940 11 65147005 [A/G] NM_001077241,NM_182556 SLC25A45,SLC25A45 EXON Missense_F19L,Missense_F61L exm926182 11 65147013 [T/C] NM_001077241,NM_182556 SLC25A45,SLC25A45 EXON Missense_G16E,Missense_G58E exm926185 11 65147373 [T/C] NM_001077241,NM_182556 SLC25A45,SLC25A45 EXON Silent,Missense_V40I exm926188 11 65147394 [A/G] NM_001077241,NM_182556 SLC25A45,SLC25A45 EXON Silent,Nonsense_Q33X exm926205 11 65156856 [T/C] NM_031904 FRMD8 EXON Missense_A37V exm2271617 11 65159382 [T/C] NM_031904 FRMD8 Silent exm926223 11 65161739 [A/G] NM_031904 FRMD8 EXON Missense_E142K exm2250147 11 65164114 [A/G] NM_031904 FRMD8 Silent exm926249 11 65167232 [C/G] NM_031904 FRMD8 EXON Missense_D277H exm926261 11 65167292 [A/G] NM_031904 FRMD8 EXON Missense_S297G exm2274501 11 65172461 [T/C] NM_031904 FRMD8 EXON Missense_R400C exm-rs17146964 11 65249145 [A/G] exm926635 11 65293512 [A/G] NM_020680,NM_001048218 SCYL1,SCYL1 EXON Missense_V125M,Missense_V125M exm926648 11 65293803 [A/G] NM_020680,NM_001048218 SCYL1,SCYL1 EXON Missense_R195K,Missense_R195K exm926656 11 65294543 [A/G] NM_020680,NM_001048218 SCYL1,SCYL1 EXON Missense_M268I,Missense_M268I exm926659 11 65298127 [T/G] NM_020680,NM_001048218 SCYL1,SCYL1 EXON Missense_F293V,Missense_F293V exm1729088 11 65298147 [C/G] NM_020680,NM_001048218 SCYL1,SCYL1 EXON Missense_K299N,Missense_K299N exm926663 11 65298179 [A/G] NM_020680,NM_001048218 SCYL1,SCYL1 EXON Missense_R310Q,Missense_R310Q exm926669 11 65298245 [T/C] NM_020680,NM_001048218 SCYL1,SCYL1 EXON Missense_T332M,Missense_T332M exm926696 11 65303605 [A/G] NM_020680,NM_001048218 SCYL1,SCYL1 EXON Missense_R523Q,Missense_R523Q exm926700 11 65303785 [T/C] NM_020680,NM_001048218 SCYL1,SCYL1 EXON Missense_P544L,Missense_P544L exm926713 11 65304520 [T/C] NM_020680,NM_001048218 SCYL1,SCYL1 EXON Missense_T627M,Missense_T610M exm926717 11 65304573 [A/G] NM_020680,NM_001048218 SCYL1,SCYL1 EXON Missense_D645N,Missense_D628N exm926722 11 65305309 [T/G] NM_020680,NM_001048218 SCYL1,SCYL1 EXON Missense_Q663H,Missense_Q646H exm1729114 11 65305450 [A/G] NM_020680,NM_001048218 SCYL1,SCYL1 EXON Missense_D682N,Missense_D665N exm926727 11 65305564 [T/C] NM_020680,NM_001048218 SCYL1,SCYL1 EXON Missense_R720W,Missense_R703W exm926730 11 65305606 [A/G] NM_020680,NM_001048218 SCYL1,SCYL1 EXON Missense_D734N,Missense_D717N exm926753 11 65307048 [T/C] NM_021070,NM_001130144,NM_001164266 LTBP3,LTBP3,LTBP3 EXON Missense_S1153N,Missense_S1200N,Missense_S1036N exm926773 11 65307852 [A/G] NM_021070,NM_001130144,NM_001164266 LTBP3,LTBP3,LTBP3 EXON Synonymous_D1036D,Synonymous_D1036D,Synonymous_D919D exm926782 11 65308405 [A/G] NM_021070,NM_001130144,NM_001164266 LTBP3,LTBP3,LTBP3 EXON Missense_P972S,Missense_P972S,Missense_P855S exm926795 11 65310596 [A/C] NM_021070,NM_001130144,NM_001164266 LTBP3,LTBP3,LTBP3 EXON Missense_V859G,Missense_V859G,Missense_V742G exm926801 11 65310916 [T/C] NM_021070,NM_001130144,NM_001164266 LTBP3,LTBP3,LTBP3 EXON Missense_D820N,Missense_D820N,Missense_D703N exm926803 11 65310994 [T/C] NM_021070,NM_001130144,NM_001164266 LTBP3,LTBP3,LTBP3 EXON Missense_V794M,Missense_V794M,Missense_V677M exm926838 11 65318874 [A/G] NM_021070,NM_001130144,NM_001164266 LTBP3,LTBP3,LTBP3 EXON Synonymous_P540P,Synonymous_P540P,Synonymous_P423P exm926851 11 65319751 [A/G] NM_021070,NM_001130144,NM_001164266 LTBP3,LTBP3,LTBP3 EXON Missense_A438V,Missense_A438V,Missense_A321V exm926857 11 65320359 [A/T] NM_021070,NM_001130144,NM_001164266 LTBP3,LTBP3,LTBP3 EXON Missense_S386R,Missense_S386R,Missense_S269R exm926860 11 65320417 [T/C] NM_021070,NM_001130144,NM_001164266 LTBP3,LTBP3,LTBP3 EXON Missense_H367R,Missense_H367R,Missense_H250R exm926866 11 65320655 [A/C] NM_021070,NM_001130144,NM_001164266 LTBP3,LTBP3,LTBP3 EXON Missense_L348R,Missense_L348R,Missense_L231R exm926870 11 65320709 [A/G] NM_021070,NM_001130144,NM_001164266 LTBP3,LTBP3,LTBP3 EXON Missense_P330L,Missense_P330L,Missense_P213L exm926874 11 65321172 [A/C] NM_021070,NM_001130144,NM_001164266 LTBP3,LTBP3,LTBP3 EXON Synonymous_P288P,Synonymous_P288P,Synonymous_P171P exm-rs3782089 11 65336819 [T/C] NR_038923 LOC254100 EXON Silent exm926913 11 65338117 [T/C] NM_006396 SSSCA1 EXON Missense_T21M exm926917 11 65338363 [A/C] NM_006396 SSSCA1 EXON Missense_L60I exm926918 11 65338400 [T/C] NM_006396 SSSCA1 EXON Missense_A72V exm926923 11 65339027 [T/C] NM_006396 SSSCA1 EXON Missense_P141L exm926927 11 65339180 [A/G] NM_006396 SSSCA1 EXON Missense_R192H exm926940 11 65341056 [G/C] NM_001098785,NM_152832,NM_001098784 FAM89B,FAM89B,FAM89B EXON Missense_Q172E,Missense_Q159E,Silent exm926965 11 65346846 [A/C] NM_001099409 EHBP1L1 EXON Missense_Y66S exm926969 11 65346881 [A/G] NM_001099409 EHBP1L1 EXON Missense_V78M exm926982 11 65347636 [G/C] NM_001099409 EHBP1L1 EXON Missense_V133L exm926985 11 65347830 [A/G] NM_001099409 EHBP1L1 EXON Missense_A172T exm926989 11 65347930 [A/G] NM_001099409 EHBP1L1 EXON Missense_R205Q exm926994 11 65348529 [A/G] NM_001099409 EHBP1L1 EXON Missense_D212G exm926998 11 65348583 [A/G] NM_001099409 EHBP1L1 EXON Missense_R230Q exm927001 11 65348736 [T/C] NM_001099409 EHBP1L1 EXON Missense_A253V exm927013 11 65349235 [T/A] NM_001099409 EHBP1L1 EXON Missense_D364E exm927014 11 65349240 [T/G] NM_001099409 EHBP1L1 EXON Missense_G366V exm927016 11 65349392 [A/G] NM_001099409 EHBP1L1 EXON Missense_E417K exm927027 11 65349692 [C/G] NM_001099409 EHBP1L1 EXON Missense_G517R exm927028 11 65349756 [T/G] NM_001099409 EHBP1L1 EXON Missense_V538G exm927031 11 65349849 [T/A] NM_001099409 EHBP1L1 EXON Missense_D569V exm927041 11 65350061 [T/G] NM_001099409 EHBP1L1 EXON Missense_V640F exm2250149 11 65350408 [A/G] NM_001099409 EHBP1L1 EXON Synonymous_E755E exm927056 11 65350655 [A/G] NM_001099409 EHBP1L1 EXON Missense_V838I exm927063 11 65350826 [T/A] NM_001099409 EHBP1L1 EXON Missense_S895C exm927071 11 65351019 [A/T] NM_001099409 EHBP1L1 EXON Missense_M959K exm927079 11 65351159 [A/G] NM_001099409 EHBP1L1 EXON Missense_S1006G exm927086 11 65351779 [A/G] NM_001099409 EHBP1L1 EXON Missense_Y1054C exm927089 11 65351829 [C/G] NM_001099409 EHBP1L1 EXON Missense_A1071P exm927091 11 65351863 [A/G] NM_001099409 EHBP1L1 EXON Missense_D1082G exm927098 11 65352458 [T/C] NM_001099409 EHBP1L1 EXON Missense_V1110A exm927120 11 65357637 [A/G] NM_001099409 EHBP1L1 EXON Missense_R1380Q exm1729285 11 65357978 [A/C] NM_001099409 EHBP1L1 EXON Missense_Q1400K exm927138 11 65360489 [G/C] NM_005714,NM_033347,NM_033348,NM_033455 KCNK7,KCNK7,KCNK7,KCNK7 EXON Silent,Missense_A304G,Silent,Silent exm927149 11 65360925 [A/G] NM_005714,NM_033347,NM_033348,NM_033455 KCNK7,KCNK7,KCNK7,KCNK7 EXON Missense_A247V,Silent,Silent,Silent exm2250150 11 65361005 [A/G] NM_005714,NM_033347,NM_033348,NM_033455 KCNK7,KCNK7,KCNK7,KCNK7 EXON Synonymous_P220P,Synonymous_P220P,Synonymous_P220P,Synonymous_P220P exm927159 11 65361063 [T/C] NM_005714,NM_033347,NM_033348,NM_033455 KCNK7,KCNK7,KCNK7,KCNK7 EXON Missense_G201E,Missense_G201E,Missense_G201E,Missense_G201E exm927177 11 65361256 [T/C] NM_005714,NM_033347,NM_033348,NM_033455 KCNK7,KCNK7,KCNK7,KCNK7 EXON Missense_V137M,Missense_V137M,Missense_V137M,Missense_V137M exm927182 11 65361309 [T/C] NM_005714,NM_033347,NM_033348,NM_033455 KCNK7,KCNK7,KCNK7,KCNK7 EXON Missense_K119R,Missense_K119R,Missense_K119R,Missense_K119R exm927189 11 65362975 [T/C] NM_005714,NM_033347,NM_033348,NM_033455 KCNK7,KCNK7,KCNK7,KCNK7 EXON Nonsense_W90X,Nonsense_W90X,Nonsense_W90X,Nonsense_W90X exm927193 11 65363063 [T/C] NM_005714,NM_033347,NM_033348,NM_033455 KCNK7,KCNK7,KCNK7,KCNK7 EXON Missense_G61R,Missense_G61R,Missense_G61R,Missense_G61R exm927215 11 65366868 [A/G] NM_002419 MAP3K11 EXON Missense_R735C exm927216 11 65366882 [T/C] NM_002419 MAP3K11 EXON Missense_R730H exm927245 11 65373244 [C/G] NM_002419 MAP3K11 EXON Missense_P607A exm927246 11 65373249 [T/G] NM_002419 MAP3K11 EXON Missense_T605K exm927252 11 65373538 [A/G] NM_002419 MAP3K11 EXON Missense_P540S exm927259 11 65374902 [T/G] NM_002419 MAP3K11 EXON Missense_H443P exm927283 11 65375904 [T/G] NM_002419 MAP3K11 EXON Missense_P252H exm927296 11 65380869 [T/C] NM_002419 MAP3K11 EXON Missense_E120G exm927304 11 65381010 [T/C] NM_002419 MAP3K11 EXON Missense_R73Q exm927313 11 65381136 [T/C] NM_002419 MAP3K11 EXON Missense_R31Q exm927329 11 65383859 [T/A] NM_032223 PCNXL3 EXON Missense_H26L exm927333 11 65383912 [A/G] NM_032223 PCNXL3 EXON Missense_I44V exm927353 11 65384944 [G/C] NM_032223 PCNXL3 EXON Missense_L149V exm927359 11 65385138 [A/G] NM_032223 PCNXL3 EXON Missense_D180N exm927367 11 65385456 [T/C] NM_032223 PCNXL3 EXON Missense_S208F exm927372 11 65385573 [A/G] NM_032223 PCNXL3 EXON Missense_Q247R exm927376 11 65385606 [A/G] NM_032223 PCNXL3 EXON Missense_Q258R exm927379 11 65385649 [A/C] NM_032223 PCNXL3 EXON Missense_Q272H exm927380 11 65385680 [A/G] NM_032223 PCNXL3 EXON Missense_D283N exm927402 11 65385984 [A/G] NM_032223 PCNXL3 EXON Missense_K384R exm927408 11 65386128 [T/C] NM_032223 PCNXL3 EXON Missense_P432L exm927414 11 65386206 [C/G] NM_032223 PCNXL3 EXON Missense_S458C exm927423 11 65386284 [A/G] NM_032223 PCNXL3 EXON Missense_R484Q exm927424 11 65386301 [T/C] NM_032223 PCNXL3 EXON Missense_R490W exm927428 11 65386347 [T/G] NM_032223 PCNXL3 EXON Missense_S505I exm927429 11 65386383 [A/C] NM_032223 PCNXL3 EXON Missense_P517Q exm927430 11 65386404 [A/C] NM_032223 PCNXL3 EXON Missense_E524A exm927431 11 65386470 [A/G] NM_032223 PCNXL3 EXON Missense_R546Q exm927436 11 65387022 [A/G] NM_032223 PCNXL3 EXON Missense_G574S exm927439 11 65387035 [A/G] NM_032223 PCNXL3 EXON Missense_R578H exm-rs12801636 11 65391317 [A/G] NM_032223 PCNXL3 Silent exm927502 11 65392735 [A/G] NM_032223 PCNXL3 EXON Missense_D1005N exm927516 11 65393376 [T/C] NM_032223 PCNXL3 EXON Missense_S1077L exm927520 11 65393414 [A/G] NM_032223 PCNXL3 EXON Missense_V1090M exm927523 11 65393524 [T/C] NM_032223 PCNXL3 EXON Synonymous_R1126R exm927530 11 65394881 [A/G] NM_032223 PCNXL3 EXON Missense_R1177Q exm927569 11 65401748 [A/G] NM_032223 PCNXL3 EXON Missense_R1541H exm927572 11 65401817 [A/G] NM_032223 PCNXL3 EXON Missense_R1564Q exm927604 11 65403261 [T/C] NM_032223 PCNXL3 EXON Missense_R1816C exm927605 11 65403651 [A/C] NM_032223 PCNXL3 EXON Missense_H1822Q exm927614 11 65403865 [A/G] NM_032223 PCNXL3 EXON Missense_N1866S exm927633 11 65408478 [C/G] NM_006747,NM_153253 SIPA1,SIPA1 EXON Missense_R29P,Missense_R29P exm927645 11 65408708 [T/G] NM_006747,NM_153253 SIPA1,SIPA1 EXON Missense_A106S,Missense_A106S exm1729475 11 65408874 [A/G] NM_006747,NM_153253 SIPA1,SIPA1 EXON Missense_G161E,Missense_G161E exm927671 11 65410046 [A/G] NM_006747,NM_153253 SIPA1,SIPA1 EXON Missense_C307Y,Missense_C307Y exm927679 11 65412507 [A/G] NM_006747,NM_153253 SIPA1,SIPA1 EXON Missense_A356T,Missense_A356T exm927682 11 65412556 [A/G] NM_006747,NM_153253 SIPA1,SIPA1 EXON Missense_R372Q,Missense_R372Q exm927690 11 65413813 [A/G] NM_006747,NM_153253 SIPA1,SIPA1 EXON Missense_R462Q,Missense_R462Q exm2250153 11 65413817 [A/C] NM_006747,NM_153253 SIPA1,SIPA1 EXON Synonymous_A463A,Synonymous_A463A exm927715 11 65414949 [T/C] NM_006747,NM_153253 SIPA1,SIPA1 EXON Missense_T709M,Missense_T709M exm927723 11 65416753 [T/C] NM_006747,NM_153253 SIPA1,SIPA1 EXON Missense_T776M,Missense_T776M exm927728 11 65416851 [T/C] NM_006747,NM_153253 SIPA1,SIPA1 EXON Missense_H809Y,Missense_H809Y exm927730 11 65416867 [A/G] NM_006747,NM_153253 SIPA1,SIPA1 EXON Missense_D814G,Missense_D814G exm1729499 11 65416902 [A/G] NM_006747,NM_153253 SIPA1,SIPA1 EXON Missense_E826K,Missense_E826K exm927740 11 65417132 [A/C] NM_006747,NM_153253 SIPA1,SIPA1 EXON Missense_P876T,Missense_P876T exm927743 11 65417258 [A/G] NM_006747,NM_153253 SIPA1,SIPA1 EXON Missense_D890N,Missense_D890N exm927748 11 65417436 [T/G] NM_006747,NM_153253 SIPA1,SIPA1 EXON Missense_G921V,Missense_G921V exm927763 11 65418077 [A/G] NM_006747,NM_153253 SIPA1,SIPA1 EXON Missense_R1007Q,Missense_R1007Q exm927765 11 65418098 [A/G] NM_006747,NM_153253 SIPA1,SIPA1 EXON Missense_R1014Q,Missense_R1014Q exm927776 11 65421892 [A/G] NM_001243985,NM_021975,NM_001145138,NM_001243984 RELA,RELA,RELA,RELA EXON Missense_A435V,Missense_A538V,Missense_A535V,Missense_A469V exm927801 11 65422470 [T/C] NM_001243985,NM_021975,NM_001145138,NM_001243984 RELA,RELA,RELA,RELA EXON Synonymous_A345A,Synonymous_A345A,Synonymous_A342A,Silent exm927809 11 65423327 [A/G] NM_001243985,NM_021975,NM_001145138,NM_001243984 RELA,RELA,RELA,RELA EXON Synonymous_S319S,Synonymous_S319S,Synonymous_S316S,Synonymous_S319S exm927810 11 65423347 [T/C] NM_001243985,NM_021975,NM_001145138,NM_001243984 RELA,RELA,RELA,RELA EXON Missense_M313V,Missense_M313V,Missense_M310V,Missense_M313V exm927814 11 65423400 [T/C] NM_001243985,NM_021975,NM_001145138,NM_001243984 RELA,RELA,RELA,RELA EXON Missense_R295H,Missense_R295H,Missense_R292H,Missense_R295H exm927816 11 65425764 [T/C] NM_001243985,NM_021975,NM_001145138,NM_001243984 RELA,RELA,RELA,RELA EXON Missense_D291N,Missense_D291N,Missense_D288N,Missense_D291N exm927817 11 65425802 [T/C] NM_001243985,NM_021975,NM_001145138,NM_001243984 RELA,RELA,RELA,RELA EXON Missense_R278Q,Missense_R278Q,Missense_R275Q,Missense_R278Q exm927860 11 65479817 [A/G] NM_182709,NM_006388,NM_182710,NM_001206833 KAT5,KAT5,KAT5,KAT5 EXON Silent,Silent,Missense_V27I,Missense_V27I exm2267185 11 65480768 [A/G] NM_182709,NM_006388,NM_182710,NM_001206833 KAT5,KAT5,KAT5,KAT5 Silent,Silent,Silent,Silent exm927880 11 65480855 [A/G] NM_182709,NM_006388,NM_182710,NM_001206833 KAT5,KAT5,KAT5,KAT5 EXON Silent,Missense_I108V,Missense_I141V,Silent exm927915 11 65484225 [A/G] NM_182709,NM_006388,NM_182710,NM_001206833 KAT5,KAT5,KAT5,KAT5 EXON Missense_V288I,Missense_V340I,Missense_V373I,Missense_V321I exm1729568 11 65486406 [A/G] NM_182709,NM_006388,NM_182710,NM_001206833,NM_032193 KAT5,KAT5,KAT5,KAT5,RNASEH2C EXON Missense_N411S,Missense_N463S,Missense_N496S,Missense_N444S,Silent exm927937 11 65487516 [A/C] NM_032193 RNASEH2C EXON Synonymous_A156A exm927948 11 65487769 [A/G] NM_032193 RNASEH2C EXON Missense_P98S exm927951 11 65487793 [T/C] NM_032193 RNASEH2C EXON Missense_K90E exm-rs4014195 11 65506822 [G/C] exm927982 11 65545610 [A/G] NM_138368 AP5B1 EXON Missense_L785P exm928001 11 65545821 [C/G] NM_138368 AP5B1 EXON Missense_L715V exm928006 11 65545913 [A/G] NM_138368 AP5B1 EXON Missense_P684L exm928009 11 65545982 [A/G] NM_138368 AP5B1 EXON Missense_P661L exm928026 11 65546372 [A/G] NM_138368 AP5B1 EXON Missense_P531L exm928043 11 65546738 [A/G] NM_138368 AP5B1 EXON Missense_P409L exm928046 11 65546763 [A/G] NM_138368 AP5B1 EXON Missense_L401F exm928047 11 65546769 [A/G] NM_138368 AP5B1 EXON Missense_R399C exm-rs610037 11 65546857 [A/C] NM_138368 AP5B1 EXON Synonymous_L369L exm928067 11 65547060 [T/C] NM_138368 AP5B1 EXON Missense_G302R exm928070 11 65547111 [A/C] NM_138368 AP5B1 EXON Missense_A285S exm928079 11 65547225 [A/C] NM_138368 AP5B1 EXON Nonsense_E247X exm928085 11 65547312 [T/C] NM_138368 AP5B1 EXON Missense_T218A exm928087 11 65547333 [A/G] NM_138368 AP5B1 EXON Missense_L211F exm928107 11 65547791 [A/G] NM_138368 AP5B1 EXON Missense_M58T exm928116 11 65561541 [T/C] NM_004561 OVOL1 EXON Missense_P47L exm928119 11 65561558 [A/G] NM_004561 OVOL1 EXON Missense_E53K exm928121 11 65561574 [T/C] NM_004561 OVOL1 EXON Missense_P58L exm928125 11 65561616 [T/C] NM_004561 OVOL1 EXON Missense_M72T exm928133 11 65562052 [A/G] NM_004561 OVOL1 EXON Missense_R121H exm928139 11 65562518 [T/C] NM_004561 OVOL1 EXON Synonymous_G170G exm928141 11 65562618 [A/G] NM_004561 OVOL1 EXON Missense_A204T exm928149 11 65562693 [A/G] NM_004561 OVOL1 EXON Missense_V229I exm-rs10896053 11 65579670 [A/G] exm928176 11 65617501 [T/C] NM_152760 SNX32 EXON Synonymous_I84I exm2274502 11 65618258 [A/G] NM_152760 SNX32 EXON Missense_G179R exm928207 11 65618831 [A/G] NM_152760 SNX32 EXON Missense_A248T exm2275342 11 65618855 [G/C] NM_152760 SNX32 EXON Missense_E256Q exm1729687 11 65620116 [T/C] NM_152760 SNX32 EXON Missense_R310W exm928220 11 65620140 [A/G] NM_152760 SNX32 EXON Missense_E318K exm928231 11 65620362 [A/C] NM_152760 SNX32 EXON Missense_S364Y exm928233 11 65620368 [A/G] NM_152760 SNX32 EXON Missense_R366Q exm928245 11 65620801 [A/C] NM_152760 SNX32 EXON Missense_P403T exm928249 11 65622918 [T/C] NM_005507 CFL1 EXON Synonymous_G130G exm928279 11 65628334 [A/G] NM_025128 MUS81 EXON Missense_R37H exm928290 11 65628896 [G/C] NM_025128 MUS81 EXON Missense_S114C exm928291 11 65628899 [T/C] NM_025128 MUS81 EXON Missense_S115F exm928296 11 65629482 [A/G] NM_025128 MUS81 EXON Missense_R139Q exm928301 11 65629743 [A/C] NM_025128 MUS81 EXON Missense_S171Y exm928304 11 65629934 [G/C] NM_025128 MUS81 EXON Missense_R180P exm2219208 11 65629960 [T/C] NM_025128 MUS81 EXON Missense_L189F exm928316 11 65630970 [A/G] NM_025128 MUS81 EXON Missense_R279Q exm928323 11 65631127 [T/C] NM_025128 MUS81 EXON Missense_T299M exm928335 11 65631361 [T/C] NM_025128 MUS81 EXON Missense_R350W exm1729744 11 65632070 [A/G] NM_025128 MUS81 EXON Missense_V388I exm928347 11 65632076 [A/C] NM_025128 MUS81 EXON Missense_N390H exm928350 11 65632242 [A/G] NM_025128 MUS81 EXON Missense_A410T exm928360 11 65632698 [T/C] NM_025128 MUS81 EXON Missense_S470L exm928387 11 65635441 [T/C] NM_016938,NR_037718 EFEMP2,EFEMP2 EXON Missense_R354Q,Silent exm928391 11 65635525 [T/C] NM_016938,NR_037718 EFEMP2,EFEMP2 EXON Missense_R326H,Silent exm1729771 11 65635794 [A/C] NM_016938,NR_037718 EFEMP2,EFEMP2 EXON Missense_V316L,Silent exm928393 11 65635806 [T/C] NM_016938,NR_037718 EFEMP2,EFEMP2 EXON Missense_T312A,Silent exm2250154 11 65635855 [A/G] NM_016938,NR_037718 EFEMP2,EFEMP2 EXON Synonymous_S295S,Silent exm928403 11 65636053 [T/C] NM_016938,NR_037718 EFEMP2,EFEMP2 EXON Missense_I259V,Silent exm2250155 11 65637629 [T/C] NM_016938,NR_037718 EFEMP2,EFEMP2 EXON Synonymous_P190P,Silent exm928419 11 65637634 [T/C] NM_016938,NR_037718 EFEMP2,EFEMP2 EXON Missense_E189K,Silent exm928422 11 65637693 [T/C] NM_016938,NR_037718 EFEMP2,EFEMP2 EXON Missense_R169H,Silent exm928423 11 65637703 [T/C] NM_016938,NR_037718 EFEMP2,EFEMP2 EXON Missense_D166N,Silent exm928430 11 65638075 [A/T] NM_016938,NR_037718 EFEMP2,EFEMP2 EXON Missense_H141L,Silent exm928446 11 65638736 [T/C] NM_016938,NR_037718 EFEMP2,EFEMP2 EXON Missense_V87I,Silent exm928457 11 65639462 [A/G] NM_016938,NR_037718 EFEMP2,EFEMP2 EXON Missense_P47S,Silent exm928470 11 65647737 [A/G] NM_001335 CTSW EXON Missense_R51Q exm928477 11 65648895 [G/C] NM_001335 CTSW EXON Missense_D64H exm2219213 11 65649651 [T/G] NM_001335 CTSW EXON Nonsense_E98X exm928489 11 65649676 [A/G] NM_001335 CTSW EXON Missense_R106Q exm928490 11 65649682 [T/C] NM_001335 CTSW EXON Missense_A108V exm928491 11 65649699 [A/G] NM_001335 CTSW EXON Missense_S114G exm928494 11 65649774 [A/G] NM_001335 CTSW EXON Missense_S139G exm928498 11 65649953 [T/C] NM_001335 CTSW EXON Missense_L165P exm928499 11 65649955 [A/T] NM_001335 CTSW EXON Missense_W166R exm928501 11 65649958 [T/C] NM_001335 CTSW EXON Missense_R167C exm928505 11 65649985 [A/G] NM_001335 CTSW EXON Missense_V176I exm928507 11 65649997 [A/G] NM_001335 CTSW EXON Missense_E180K exm928509 11 65650090 [A/C] NM_001335 CTSW EXON Missense_D183E exm1729824 11 65650097 [T/C] NM_001335 CTSW EXON Missense_R186C exm928513 11 65650127 [A/G] NM_001335 CTSW EXON Missense_V196I exm928518 11 65650250 [A/G] NM_001335 CTSW EXON Missense_S207N exm928521 11 65650283 [A/G] NM_001335 CTSW EXON Missense_Q218R exm928527 11 65650543 [T/C] NM_001335 CTSW EXON Missense_I250T exm928533 11 65650731 [T/C] NM_001335 CTSW EXON Missense_P286S exm928536 11 65650821 [T/A] NM_001335 CTSW EXON Missense_S316T exm928545 11 65650978 [C/G] NM_001335 CTSW Silent exm1729842 11 65651040 [A/C] NM_001335 CTSW EXON Missense_A361D exm928558 11 65651461 [T/C] NM_004214,NM_198897 FIBP,FIBP EXON Missense_R353H,Missense_R360H exm928559 11 65651464 [A/C] NM_004214,NM_198897 FIBP,FIBP EXON Missense_L352R,Missense_L359R exm928560 11 65651489 [T/C] NM_004214,NM_198897 FIBP,FIBP EXON Missense_M344V,Missense_M351V exm928570 11 65651921 [T/C] NM_004214,NM_198897 FIBP,FIBP EXON Missense_D316N,Missense_D323N exm2250156 11 65652050 [A/G] NM_004214,NM_198897 FIBP,FIBP EXON Synonymous_L299L,Synonymous_L306L exm928577 11 65652103 [T/C] NM_004214,NM_198897 FIBP,FIBP EXON Missense_V282M,Missense_V289M exm928584 11 65652636 [T/C] NM_004214,NM_198897 FIBP,FIBP EXON Missense_D223G,Missense_D230G exm928586 11 65653002 [A/G] NM_004214,NM_198897 FIBP,FIBP EXON Synonymous_V215V,Synonymous_V215V exm928615 11 65655566 [G/C] NM_004214,NM_198897 FIBP,FIBP EXON Missense_I41M,Missense_I41M exm928654 11 65660600 [T/G] NM_005438 FOSL1 EXON Missense_S191R exm928684 11 65685126 [T/A] NM_001135635,NM_031450 C11orf68,C11orf68 EXON Missense_E229V,Missense_E228V exm928689 11 65685225 [T/C] NM_001135635,NM_031450 C11orf68,C11orf68 EXON Missense_Q196R,Missense_Q195R exm928693 11 65685293 [T/C] NM_001135635,NM_031450 C11orf68,C11orf68 EXON Missense_M173I,Missense_M172I exm928695 11 65685369 [T/C] NM_001135635,NM_031450 C11orf68,C11orf68 EXON Missense_S148N,Missense_S147N exm928748 11 65688882 [C/G] NM_006442 DRAP1 EXON Missense_E198D exm928756 11 65713207 [T/C] NM_152762 TSGA10IP EXON Missense_X21R exm928757 11 65713221 [C/G] NM_152762 TSGA10IP EXON Missense_D25E exm928766 11 65714468 [T/G] NM_152762 TSGA10IP EXON Missense_G89C exm928767 11 65714583 [T/A] NM_152762 TSGA10IP EXON Missense_H96L exm928774 11 65714793 [T/C] NM_152762 TSGA10IP EXON Missense_A166V exm928779 11 65714925 [T/C] NM_152762 TSGA10IP EXON Missense_A210V exm928782 11 65714953 [C/G] NM_152762 TSGA10IP EXON Missense_S219R exm928783 11 65715005 [A/C] NM_152762 TSGA10IP EXON Missense_R237S exm928785 11 65715171 [A/G] NM_152762 TSGA10IP EXON Missense_S292N exm928787 11 65715203 [T/C] NM_152762 TSGA10IP EXON Nonsense_R303X exm928788 11 65715204 [A/G] NM_152762 TSGA10IP EXON Missense_R303Q exm2276189 11 65715210 [A/G] NM_152762 TSGA10IP EXON Missense_R305Q exm928795 11 65715588 [T/C] NM_152762 TSGA10IP EXON Missense_R374C exm928796 11 65715589 [A/G] NM_152762 TSGA10IP EXON Missense_R374H exm928824 11 65727301 [A/G] NM_152762 TSGA10IP EXON Missense_M521V exm928825 11 65727315 [A/G] NM_152762 TSGA10IP EXON Missense_M525I exm928828 11 65727355 [A/G] NM_152762 TSGA10IP EXON Missense_G539S exm2274503 11 65729281 [G/C] NM_005146 SART1 EXON Missense_E10D exm928840 11 65731591 [C/G] NM_005146 SART1 EXON Missense_I120M exm928845 11 65732566 [T/C] NM_005146 SART1 EXON Missense_A144V exm928858 11 65733177 [A/G] NM_005146 SART1 EXON Missense_K222R exm928861 11 65733236 [A/G] NM_005146 SART1 EXON Missense_G242R exm928863 11 65733367 [A/G] NM_005146 SART1 EXON Missense_S250G exm928873 11 65733604 [A/G] NM_005146 SART1 EXON Missense_R299Q exm928874 11 65733657 [C/G] NM_005146 SART1 EXON Missense_A317P exm928878 11 65733685 [T/C] NM_005146 SART1 EXON Missense_A326V exm928889 11 65733957 [A/G] NM_005146 SART1 EXON Missense_R373Q exm928894 11 65734769 [C/G] NM_005146 SART1 EXON Missense_R410G exm2219222 11 65735252 [A/G] NM_005146 SART1 EXON Missense_Q511R exm928914 11 65735271 [C/G] NM_005146 SART1 EXON Missense_Q517H exm928919 11 65743896 [T/C] NM_005146 SART1 EXON Missense_R535C exm1729984 11 65744142 [A/G] NM_005146 SART1 EXON Missense_E588K exm2250160 11 65744532 [T/C] NM_005146 SART1 EXON Synonymous_N635N exm928956 11 65745305 [A/G] NM_005146 SART1 EXON Missense_G703S exm2273483 11 65766041 [A/G] NM_001242484,NM_032325,NM_001242482,NM_001242485,NM_001242483,NM_001242481,NM_001242486 EIF1AD,EIF1AD,EIF1AD,EIF1AD,EIF1AD,EIF1AD,EIF1AD EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent exm928986 11 65766092 [T/C] NM_001242484,NM_032325,NM_001242482,NM_001242485,NM_001242483,NM_001242481,NM_001242486 EIF1AD,EIF1AD,EIF1AD,EIF1AD,EIF1AD,EIF1AD,EIF1AD EXON Missense_S159N,Missense_S159N,Missense_S159N,Missense_S159N,Missense_S159N,Missense_S159N,Missense_S159N exm1730010 11 65766209 [A/G] NM_001242484,NM_032325,NM_001242482,NM_001242485,NM_001242483,NM_001242481,NM_001242486 EIF1AD,EIF1AD,EIF1AD,EIF1AD,EIF1AD,EIF1AD,EIF1AD EXON Missense_T120I,Missense_T120I,Missense_T120I,Missense_T120I,Missense_T120I,Missense_T120I,Missense_T120I exm928989 11 65766210 [T/C] NM_001242484,NM_032325,NM_001242482,NM_001242485,NM_001242483,NM_001242481,NM_001242486 EIF1AD,EIF1AD,EIF1AD,EIF1AD,EIF1AD,EIF1AD,EIF1AD EXON Missense_T120A,Missense_T120A,Missense_T120A,Missense_T120A,Missense_T120A,Missense_T120A,Missense_T120A exm929009 11 65767578 [A/G] NM_001242484,NM_032325,NM_001242482,NM_001242485,NM_001242483,NM_001242481,NM_001242486 EIF1AD,EIF1AD,EIF1AD,EIF1AD,EIF1AD,EIF1AD,EIF1AD EXON Missense_R48C,Missense_R48C,Missense_R48C,Missense_R48C,Missense_R48C,Missense_R48C,Missense_R48C exm929011 11 65767794 [T/C] NM_001242484,NM_032325,NM_001242482,NM_001242485,NM_001242483,NM_001242481,NM_001242486 EIF1AD,EIF1AD,EIF1AD,EIF1AD,EIF1AD,EIF1AD,EIF1AD EXON Missense_D23N,Missense_D23N,Missense_D23N,Missense_D23N,Missense_D23N,Missense_D23N,Missense_D23N exm929047 11 65784563 [T/C] NM_053054 CATSPER1 EXON Missense_V762I exm929052 11 65784635 [A/G] NM_053054 CATSPER1 EXON Missense_L738F exm929064 11 65787673 [T/C] NM_053054 CATSPER1 Silent exm929069 11 65788072 [T/C] NM_053054 CATSPER1 EXON Missense_V652I exm929076 11 65788414 [T/C] NM_053054 CATSPER1 EXON Missense_A599T exm929078 11 65788574 [T/G] NM_053054 CATSPER1 EXON Missense_T592P exm2250163 11 65788605 [T/C] NM_053054 CATSPER1 EXON Synonymous_P581P exm929080 11 65788605 [T/C] NM_053054 CATSPER1 EXON Synonymous_P581P exm929081 11 65788622 [C/G] NM_053054 CATSPER1 EXON Missense_L576V exm929088 11 65789266 [A/G] NM_053054 CATSPER1 EXON Missense_S505L exm929103 11 65790479 [A/G] NM_053054 CATSPER1 EXON Missense_W424R exm929104 11 65790511 [T/C] NM_053054 CATSPER1 EXON Missense_R413H exm929116 11 65792757 [T/C] NM_053054 CATSPER1 EXON Missense_R365Q exm929119 11 65792794 [T/C] NM_053054 CATSPER1 EXON Missense_V353I exm929134 11 65792968 [A/G] NM_053054 CATSPER1 EXON Missense_R295W exm929143 11 65793121 [T/C] NM_053054 CATSPER1 EXON Missense_G244R exm929144 11 65793127 [T/G] NM_053054 CATSPER1 EXON Missense_H242N exm929147 11 65793162 [T/C] NM_053054 CATSPER1 EXON Missense_R230H exm929148 11 65793163 [A/G] NM_053054 CATSPER1 EXON Missense_R230C exm929168 11 65793343 [T/C] NM_053054 CATSPER1 EXON Missense_G170S exm929174 11 65793454 [T/C] NM_053054 CATSPER1 EXON Missense_G133S exm929181 11 65793538 [T/C] NM_053054 CATSPER1 EXON Missense_V105I exm929187 11 65793607 [T/C] NM_053054 CATSPER1 EXON Missense_S82G exm929188 11 65793620 [A/T] NM_053054 CATSPER1 EXON Missense_Q77H exm929190 11 65793685 [T/C] NM_053054 CATSPER1 EXON Missense_E56K exm929192 11 65793703 [T/C] NM_053054 CATSPER1 EXON Missense_V50M exm929195 11 65793706 [T/C] NM_053054 CATSPER1 EXON Missense_G49S exm929237 11 65810612 [T/G] NM_033036 GAL3ST3 EXON Missense_A221D exm1730103 11 65810624 [A/G] NM_033036 GAL3ST3 EXON Missense_P217L exm929253 11 65810834 [T/C] NM_033036 GAL3ST3 EXON Missense_Y147C exm929259 11 65810964 [A/G] NM_033036 GAL3ST3 EXON Nonsense_Q104X exm929267 11 65811053 [A/G] NM_033036 GAL3ST3 EXON Missense_T74M exm1730109 11 65811095 [T/C] NM_033036 GAL3ST3 EXON Missense_R60H exm929276 11 65819886 [A/G] NM_006842 SF3B2 EXON Missense_A11T exm929278 11 65819931 [T/G] NM_006842 SF3B2 EXON Missense_A26S exm2250164 11 65822573 [A/G] NM_006842 SF3B2 EXON Synonymous_P95P exm929295 11 65822689 [A/G] NM_006842 SF3B2 EXON Missense_R134H exm929312 11 65824799 [C/G] NM_006842 SF3B2 EXON Missense_P244A exm929315 11 65825525 [A/C] NM_006842 SF3B2 EXON Missense_M260L exm929329 11 65826307 [T/C] NM_006842 SF3B2 EXON Missense_R325W exm929336 11 65826444 [G/C] NM_006842 SF3B2 EXON Missense_E370D exm929367 11 65835516 [A/G] NM_006842 SF3B2 EXON Synonymous_T810T exm929398 11 65978707 [A/G] NM_018026 PACS1 EXON Missense_V213M exm2219235 11 65983668 [A/G] NM_018026 PACS1 EXON Missense_E247K exm929402 11 65983681 [A/C] NM_018026 PACS1 EXON Missense_Y251S exm2250167 11 65984177 [T/C] NM_018026 PACS1 EXON Synonymous_Y303Y exm929451 11 66000459 [A/G] NM_018026 PACS1 EXON Missense_R587Q exm929458 11 66001386 [A/C] NM_018026 PACS1 EXON Missense_M657L exm1730260 11 66002865 [A/G] NM_018026 PACS1 EXON Missense_R733Q exm929495 11 66009061 [C/G] NM_018026 PACS1 EXON Missense_G865R exm929512 11 66029387 [G/C] NM_001134775,NM_001134776,NM_001134774,NM_022822 KLC2,KLC2,KLC2,KLC2 EXON Missense_Q135E,Missense_Q135E,Silent,Missense_Q135E exm929524 11 66029645 [A/G] NM_001134775,NM_001134776,NM_001134774,NM_022822 KLC2,KLC2,KLC2,KLC2 EXON Missense_E171K,Missense_E171K,Missense_E94K,Missense_E171K exm929559 11 66032649 [A/G] NM_001134775,NM_001134776,NM_001134774,NM_022822 KLC2,KLC2,KLC2,KLC2 EXON Missense_R426Q,Missense_R426Q,Missense_R349Q,Missense_R426Q exm929571 11 66033226 [T/C] NM_001134775,NM_001134776,NM_001134774,NM_022822 KLC2,KLC2,KLC2,KLC2 EXON Missense_R479C,Missense_R479C,Missense_R402C,Missense_R479C exm929580 11 66033394 [T/C] NM_001134775,NM_001134776,NM_001134774,NM_022822 KLC2,KLC2,KLC2,KLC2 EXON Missense_R505C,Missense_R505C,Missense_R428C,Missense_R505C exm929583 11 66033413 [T/C] NM_001134775,NM_001134776,NM_001134774,NM_022822 KLC2,KLC2,KLC2,KLC2 EXON Missense_M511T,Missense_M511T,Missense_M434T,Missense_M511T exm929584 11 66033430 [T/C] NM_001134775,NM_001134776,NM_001134774,NM_022822 KLC2,KLC2,KLC2,KLC2 EXON Missense_P517S,Missense_P517S,Missense_P440S,Missense_P517S exm929660 11 66052197 [A/G] NM_020470 YIF1A EXON Missense_R265W exm929665 11 66052251 [A/G] NM_020470 YIF1A EXON Missense_R247C exm929687 11 66053228 [T/C] NM_020470 YIF1A EXON Synonymous_T143T exm929690 11 66055077 [T/C] NM_020470 YIF1A EXON Missense_Y140C exm929694 11 66055095 [A/G] NM_020470 YIF1A EXON Missense_L134P exm2274504 11 66055107 [C/G] NM_020470 YIF1A EXON Missense_P130R exm929698 11 66055284 [T/A] NM_020470 YIF1A EXON Missense_Q116L exm929704 11 66055381 [A/G] NM_020470 YIF1A EXON Missense_R84C exm929715 11 66055685 [A/G] NM_020470 YIF1A EXON Missense_P37L exm929716 11 66055692 [T/C] NM_020470 YIF1A EXON Missense_S35G exm929756 11 66062546 [T/C] NM_153266 TMEM151A EXON Missense_R277C exm929762 11 66062732 [A/G] NM_153266 TMEM151A EXON Missense_A339T exm2267186 11 66079786 [A/G] exm929780 11 66082338 [A/G] NM_020404 CD248 EXON Missense_R721C exm929782 11 66082415 [A/G] NM_020404 CD248 EXON Missense_T695M exm929783 11 66082428 [T/G] NM_020404 CD248 EXON Missense_L691I exm929787 11 66082533 [T/C] NM_020404 CD248 EXON Missense_A656T exm929797 11 66082740 [T/G] NM_020404 CD248 EXON Missense_T587P exm929805 11 66082914 [C/G] NM_020404 CD248 EXON Missense_Q529E exm929806 11 66082953 [T/C] NM_020404 CD248 EXON Missense_M516V exm929809 11 66083043 [T/C] NM_020404 CD248 EXON Missense_A486T exm929811 11 66083049 [T/C] NM_020404 CD248 EXON Missense_V484M exm929835 11 66083511 [T/C] NM_020404 CD248 EXON Missense_V330I exm929839 11 66083591 [A/G] NM_020404 CD248 EXON Missense_A303V exm929846 11 66083666 [T/G] NM_020404 CD248 EXON Missense_A278D exm929848 11 66083672 [A/G] NM_020404 CD248 EXON Missense_A276V exm929867 11 66083967 [T/C] NM_020404 CD248 EXON Missense_V178M exm929873 11 66084056 [A/G] NM_020404 CD248 EXON Missense_T148M exm929877 11 66084156 [T/C] NM_020404 CD248 EXON Missense_T115A exm2250168 11 66084196 [A/G] NM_020404 CD248 EXON Synonymous_R101R exm2267273 11 66091814 [A/G] exm929892 11 66099764 [A/G] NM_004292 RIN1 EXON Missense_R779W exm929909 11 66100001 [T/C] NM_004292 RIN1 EXON Missense_V700I exm929913 11 66100043 [A/G] NM_004292 RIN1 EXON Missense_P686S exm929923 11 66100160 [T/G] NM_004292 RIN1 EXON Missense_P647T exm929944 11 66101085 [T/C] NM_004292 RIN1 EXON Missense_V546I exm929946 11 66101112 [T/C] NM_004292 RIN1 EXON Missense_D537N exm929954 11 66101471 [A/G] NM_004292 RIN1 EXON Missense_R504C exm929966 11 66101999 [A/G] NM_004292 RIN1 EXON Missense_S424L exm929968 11 66102041 [T/C] NM_004292 RIN1 EXON Missense_R410Q exm929980 11 66102191 [A/G] NM_004292 RIN1 EXON Missense_P360L exm929997 11 66102528 [A/G] NM_004292 RIN1 EXON Missense_R248C exm929999 11 66102557 [T/C] NM_004292 RIN1 EXON Missense_R238Q exm930000 11 66102558 [A/G] NM_004292 RIN1 EXON Missense_R238W exm2219240 11 66102578 [T/C] NM_004292 RIN1 EXON Missense_G231E exm930005 11 66102686 [T/C] NM_004292 RIN1 EXON Missense_R195Q exm930013 11 66103081 [T/C] NM_004292 RIN1 EXON Missense_R152Q exm930022 11 66103263 [A/G] NM_004292 RIN1 EXON Missense_S118P exm2250169 11 66103345 [T/C] NM_004292 RIN1 EXON Synonymous_T90T exm930029 11 66103453 [A/G] NM_004292 RIN1 EXON Missense_P88L exm930033 11 66103490 [T/C] NM_004292 RIN1 EXON Missense_A76T exm930047 11 66105194 [A/G] NM_015399,NM_001024957 BRMS1,BRMS1 EXON Silent,Missense_A273V exm930059 11 66105744 [T/C] NM_015399,NM_001024957 BRMS1,BRMS1 EXON Missense_A235T,Missense_A235T exm930076 11 66108247 [A/G] NM_015399,NM_001024957 BRMS1,BRMS1 EXON Missense_S178F,Missense_S178F exm930080 11 66108296 [T/C] NM_015399,NM_001024957 BRMS1,BRMS1 EXON Missense_E162K,Missense_E162K exm2250170 11 66109033 [T/C] NM_015399,NM_001024957 BRMS1,BRMS1 EXON Synonymous_L67L,Synonymous_L67L exm930104 11 66109687 [T/C] NM_015399,NM_001024957 BRMS1,BRMS1 EXON Missense_S7G,Missense_S7G exm930105 11 66109689 [A/G] NM_015399,NM_001024957 BRMS1,BRMS1 EXON Missense_P6L,Missense_P6L exm930110 11 66113622 [G/C] NM_006876 B3GNT1 EXON Missense_F382L exm930137 11 66130917 [A/G] NM_001532 SLC29A2 EXON Missense_A454V exm930146 11 66131827 [T/C] NM_001532 SLC29A2 EXON Missense_M376I exm930161 11 66133642 [T/C] NM_001532 SLC29A2 EXON Missense_A310T exm2250171 11 66133643 [A/G] NM_001532 SLC29A2 EXON Synonymous_P309P exm930162 11 66133643 [A/G] NM_001532 SLC29A2 EXON Synonymous_P309P exm930167 11 66133966 [A/G] NM_001532 SLC29A2 EXON Missense_P268L exm930174 11 66135269 [C/G] NM_001532 SLC29A2 EXON Missense_V208L exm930176 11 66135335 [T/C] NM_001532 SLC29A2 EXON Missense_V186M exm930188 11 66136546 [T/C] NM_001532 SLC29A2 EXON Missense_V134I exm930195 11 66136659 [A/G] NM_001532 SLC29A2 EXON Missense_T96M exm930196 11 66136665 [A/G] NM_001532 SLC29A2 EXON Missense_P94L exm930197 11 66136669 [T/C] NM_001532 SLC29A2 EXON Missense_V93I exm930200 11 66136842 [G/C] NM_001532 SLC29A2 EXON Missense_Q91H exm930203 11 66136911 [T/G] NM_001532 SLC29A2 EXON Missense_N68K exm930208 11 66136961 [T/C] NM_001532 SLC29A2 EXON Missense_R52G exm930229 11 66188725 [T/G] NM_178864 NPAS4 EXON Missense_E25D exm2219243 11 66190304 [T/C] NM_178864 NPAS4 EXON Missense_P197L exm930251 11 66191117 [A/T] NM_178864 NPAS4 EXON Missense_W293R exm1730515 11 66191310 [A/C] NM_178864 NPAS4 EXON Missense_M317L exm930273 11 66191859 [A/C] NM_178864 NPAS4 EXON Missense_Q500K exm930274 11 66191869 [T/C] NM_178864 NPAS4 EXON Missense_P503L exm2219244 11 66191926 [T/C] NM_178864 NPAS4 EXON Missense_P522L exm930285 11 66192121 [T/C] NM_178864 NPAS4 EXON Missense_T587M exm930297 11 66192465 [A/G] NM_178864 NPAS4 EXON Missense_N702D exm930298 11 66192470 [A/G] NM_178864 NPAS4 EXON Missense_M703I exm930323 11 66204624 [A/G] NM_170739,NM_016050,NM_170738 MRPL11,MRPL11,MRPL11 EXON Missense_R142C,Missense_R142C,Missense_R116C exm2219245 11 66204645 [T/C] NM_170739,NM_016050,NM_170738 MRPL11,MRPL11,MRPL11 EXON Missense_V135I,Missense_V135I,Missense_V109I exm930339 11 66206218 [T/C] NM_170739,NM_016050,NM_170738 MRPL11,MRPL11,MRPL11 EXON Missense_K3R,Missense_K3R,Missense_K3R exm930340 11 66235631 [T/C] NM_001243135,NM_145065,NM_001098510,NM_001243136 PELI3,PELI3,PELI3,PELI3 EXON Missense_S11F,Missense_S11F,Missense_S11F,Silent exm930353 11 66238826 [T/C] NM_001243135,NM_145065,NM_001098510,NM_001243136 PELI3,PELI3,PELI3,PELI3 EXON Missense_T50M,Missense_T113M,Missense_T89M,Missense_T6M exm930360 11 66240761 [C/G] NM_001243135,NM_145065,NM_001098510,NM_001243136 PELI3,PELI3,PELI3,PELI3 EXON Missense_S106C,Missense_S169C,Missense_S145C,Missense_S62C exm2250172 11 66240882 [T/C] NM_001243135,NM_145065,NM_001098510,NM_001243136 PELI3,PELI3,PELI3,PELI3 EXON Synonymous_D146D,Synonymous_D209D,Synonymous_D185D,Synonymous_D102D exm930379 11 66243087 [A/G] NM_001243135,NM_145065,NM_001098510,NM_001243136 PELI3,PELI3,PELI3,PELI3 EXON Missense_V224M,Missense_V287M,Missense_V263M,Missense_V180M exm930381 11 66243148 [T/C] NM_001243135,NM_145065,NM_001098510,NM_001243136 PELI3,PELI3,PELI3,PELI3 EXON Missense_A244V,Missense_A307V,Missense_A283V,Missense_A200V exm930385 11 66243270 [T/C] NM_001243135,NM_145065,NM_001098510,NM_001243136 PELI3,PELI3,PELI3,PELI3 EXON Missense_R285C,Missense_R348C,Missense_R324C,Missense_R241C exm930408 11 66249676 [T/C] NM_130443,NM_005700,NM_001256670 DPP3,DPP3,DPP3 EXON Missense_A2V,Missense_A2V,Missense_A2V exm930415 11 66249730 [A/G] NM_130443,NM_005700,NM_001256670 DPP3,DPP3,DPP3 EXON Missense_R20H,Missense_R20H,Missense_R20H exm930416 11 66249736 [T/C] NM_130443,NM_005700,NM_001256670 DPP3,DPP3,DPP3 EXON Missense_A22V,Missense_A22V,Missense_A22V exm930417 11 66249741 [T/C] NM_130443,NM_005700,NM_001256670 DPP3,DPP3,DPP3 EXON Missense_R24C,Missense_R24C,Missense_R24C exm930429 11 66249898 [A/G] NM_130443,NM_005700,NM_001256670 DPP3,DPP3,DPP3 EXON Missense_R76H,Missense_R76H,Missense_R76H exm930440 11 66254042 [A/G] NM_130443,NM_005700,NM_001256670 DPP3,DPP3,DPP3 EXON Missense_E131G,Missense_E131G,Missense_E101G exm930441 11 66254085 [T/G] NM_130443,NM_005700,NM_001256670 DPP3,DPP3,DPP3 EXON Missense_Q145H,Missense_Q145H,Missense_Q115H exm930445 11 66254137 [A/C] NM_130443,NM_005700,NM_001256670 DPP3,DPP3,DPP3 EXON Missense_L163M,Missense_L163M,Missense_L133M exm930447 11 66254773 [T/C] NM_130443,NM_005700,NM_001256670 DPP3,DPP3,DPP3 EXON Missense_M178T,Missense_M178T,Missense_M148T exm930461 11 66258965 [A/G] NM_130443,NM_005700,NM_001256670 DPP3,DPP3,DPP3 EXON Missense_A267T,Missense_A267T,Missense_A237T exm930479 11 66260539 [T/C] NM_130443,NM_005700,NM_001256670 DPP3,DPP3,DPP3 EXON Synonymous_Y395Y,Synonymous_Y395Y,Synonymous_Y365Y exm930484 11 66260577 [T/C] NM_130443,NM_005700,NM_001256670 DPP3,DPP3,DPP3 EXON Missense_S408L,Missense_S408L,Missense_S378L exm930494 11 66262736 [C/G] NM_130443,NM_005700,NM_001256670 DPP3,DPP3,DPP3 EXON Missense_E483D,Missense_E483D,Missense_E453D exm930498 11 66262852 [A/G] NM_130443,NM_005700,NM_001256670 DPP3,DPP3,DPP3 EXON Missense_R490Q,Missense_R490Q,Missense_R460Q exm930500 11 66262929 [T/C] NM_130443,NM_005700,NM_001256670 DPP3,DPP3,DPP3 EXON Missense_L516F,Missense_L516F,Missense_L486F exm930501 11 66262944 [T/C] NM_130443,NM_005700,NM_001256670 DPP3,DPP3,DPP3 EXON Missense_H521Y,Missense_H521Y,Missense_H491Y exm930511 11 66264859 [A/G] NM_130443,NM_005700,NM_001256670 DPP3,DPP3,DPP3 EXON Missense_G597R,Missense_G597R,Missense_G567R exm930514 11 66264880 [T/C] NM_130443,NM_005700,NM_001256670 DPP3,DPP3,DPP3 EXON Missense_R604C,Missense_R604C,Missense_R574C exm930520 11 66272117 [A/G] NM_130443,NM_005700,NM_001256670 DPP3,DPP3,DPP3 EXON Missense_R638Q,Missense_R638Q,Missense_R608Q exm930521 11 66272128 [A/G] NM_130443,NM_005700,NM_001256670 DPP3,DPP3,DPP3 EXON Missense_E642K,Missense_E642K,Missense_E612K exm930527 11 66272198 [A/G] NM_130443,NM_005700,NM_001256670 DPP3,DPP3,DPP3 EXON Missense_R665H,Missense_R665H,Missense_R635H exm930528 11 66272207 [A/C] NM_130443,NM_005700,NM_001256670 DPP3,DPP3,DPP3 EXON Missense_S668Y,Missense_S668Y,Missense_S638Y exm930530 11 66272237 [A/G] NM_130443,NM_005700,NM_001256670 DPP3,DPP3,DPP3 EXON Missense_R678H,Missense_R678H,Missense_R648H exm930534 11 66276576 [A/G] NM_130443,NM_005700,NM_001256670 DPP3,DPP3,DPP3 EXON Missense_E690K,Missense_E690K,Missense_E660K exm1730654 11 66281880 [A/G] NM_024649 BBS1 EXON Missense_V55M exm930560 11 66281952 [A/G] NM_024649 BBS1 EXON Missense_E79K exm930562 11 66282033 [G/C] NM_024649 BBS1 EXON Missense_L106V exm930569 11 66282124 [A/G] NM_024649 BBS1 EXON Missense_Q136R exm930577 11 66283169 [T/C] NM_024649 BBS1 EXON Missense_T162M exm930592 11 66287196 [A/G] NM_024649 BBS1 EXON Missense_E234K exm930598 11 66288773 [C/G] NM_024649 BBS1 EXON Missense_E252D exm930603 11 66288848 [T/G] NM_024649 BBS1 Silent exm930608 11 66290983 [T/C] NM_024649 BBS1 EXON Missense_I296T exm930620 11 66291352 [T/C] NM_024649 BBS1 EXON Missense_P370L exm930622 11 66293652 [T/G] NM_024649 BBS1 EXON Missense_M390R exm930624 11 66294120 [A/G] NM_024649 BBS1 EXON Missense_G394D exm930631 11 66297299 [A/G] NM_024649 BBS1 EXON Missense_R450Q exm930634 11 66297363 [T/C] NM_024649 BBS1 EXON Synonymous_L471L exm2250173 11 66297363 [T/C] NM_024649 BBS1 EXON Synonymous_L471L exm930643 11 66298426 [A/G] NM_024649 BBS1 EXON Missense_R512H exm1730696 11 66299152 [A/G] NM_024649 BBS1 EXON Missense_N545S exm930685 11 66311349 [A/G] NM_207340 ZDHHC24 EXON Missense_R129C exm2219251 11 66311412 [T/C] NM_207340 ZDHHC24 EXON Missense_G108R exm930691 11 66311423 [A/G] NM_207340 ZDHHC24 EXON Missense_P104L exm930706 11 66314514 [G/C] NM_001258371,NM_001104,NR_047663 ACTN3,ACTN3,ACTN3 EXON Silent,Missense_D36H,Silent exm930708 11 66314530 [A/C] NM_001258371,NM_001104,NR_047663 ACTN3,ACTN3,ACTN3 EXON Silent,Missense_P41Q,Silent exm2271515 11 66316557 [T/C] NM_001258371,NM_001104,NR_047663 ACTN3,ACTN3,ACTN3 Silent,Silent,Silent exm930715 11 66318783 [A/G] NM_001258371,NM_001104,NR_047663 ACTN3,ACTN3,ACTN3 EXON Missense_R117H,Missense_R74H,Silent exm930719 11 66318825 [A/G] NM_001258371,NM_001104,NR_047663 ACTN3,ACTN3,ACTN3 Silent,Silent,Silent exm930721 11 66319034 [T/C] NM_001258371,NM_001104,NR_047663 ACTN3,ACTN3,ACTN3 EXON Missense_R143C,Missense_R100C,Silent exm2219253 11 66322030 [T/C] NM_001258371,NM_001104,NR_047663 ACTN3,ACTN3,ACTN3 EXON Missense_L208F,Missense_L165F,Silent exm930735 11 66322639 [A/G] NM_001258371,NM_001104,NR_047663 ACTN3,ACTN3,ACTN3 EXON Missense_R242Q,Missense_R199Q,Silent exm930737 11 66322675 [A/G] NM_001258371,NM_001104,NR_047663 ACTN3,ACTN3,ACTN3 EXON Missense_R254Q,Missense_R211Q,Silent exm930739 11 66322769 [A/G] NM_001258371,NM_001104,NR_047663 ACTN3,ACTN3,ACTN3 EXON Missense_G260R,Missense_G217R,Silent exm930741 11 66322833 [T/C] NM_001258371,NM_001104,NR_047663 ACTN3,ACTN3,ACTN3 EXON Missense_A281V,Missense_A238V,Silent exm930746 11 66324641 [A/C] NM_001258371,NM_001104,NR_047663 ACTN3,ACTN3,ACTN3 EXON Missense_A324E,Missense_A281E,Silent exm930748 11 66325212 [T/C] NM_001258371,NM_001104,NR_047663 ACTN3,ACTN3,ACTN3 EXON Missense_R357C,Missense_R314C,Silent exm930758 11 66325399 [T/C] NM_001258371,NM_001104,NR_047663 ACTN3,ACTN3,ACTN3 EXON Missense_S419L,Missense_S376L,Silent exm930760 11 66325510 [A/G] NM_001258371,NM_001104,NR_047663 ACTN3,ACTN3,ACTN3 EXON Missense_A424T,Missense_A381T,Silent exm930763 11 66325519 [A/G] NM_001258371,NM_001104,NR_047663 ACTN3,ACTN3,ACTN3 EXON Missense_G427R,Missense_G384R,Silent exm2219255 11 66325544 [A/G] NM_001258371,NM_001104,NR_047663 ACTN3,ACTN3,ACTN3 EXON Missense_Y435C,Missense_Y392C,Silent exm930765 11 66325609 [T/C] NM_001258371,NM_001104,NR_047663 ACTN3,ACTN3,ACTN3 EXON Missense_R457W,Missense_R414W,Silent exm930767 11 66325618 [T/G] NM_001258371,NM_001104,NR_047663 ACTN3,ACTN3,ACTN3 EXON Missense_A460S,Missense_A417S,Silent exm930768 11 66325642 [T/C] NM_001258371,NM_001104,NR_047663 ACTN3,ACTN3,ACTN3 EXON Missense_R468W,Missense_R425W,Silent exm930770 11 66326716 [T/A] NM_001258371,NM_001104,NR_047663 ACTN3,ACTN3,ACTN3 EXON Missense_E472V,Missense_E429V,Silent exm930785 11 66327673 [A/G] NM_001258371,NM_001104,NR_047663 ACTN3,ACTN3,ACTN3 EXON Missense_R566Q,Missense_R523Q,Silent exm930789 11 66327727 [A/G] NM_001258371,NM_001104,NR_047663 ACTN3,ACTN3,ACTN3 EXON Missense_G584D,Missense_G541D,Silent exm930800 11 66328095 [T/C] NM_001258371,NM_001104,NR_047663 ACTN3,ACTN3,ACTN3 EXON Missense_X620R,Missense_X577R,Silent exm930801 11 66328101 [T/C] NM_001258371,NM_001104,NR_047663 ACTN3,ACTN3,ACTN3 EXON Nonsense_R622X,Nonsense_R579X,Silent exm930806 11 66328701 [T/C] NM_001258371,NM_001104,NR_047663 ACTN3,ACTN3,ACTN3 EXON Nonsense_R665X,Nonsense_R622X,Silent exm930808 11 66328719 [T/C] NM_001258371,NM_001104,NR_047663 ACTN3,ACTN3,ACTN3 EXON Missense_C671R,Missense_C628R,Silent exm930809 11 66328741 [A/C] NM_001258371,NM_001104,NR_047663 ACTN3,ACTN3,ACTN3 EXON Missense_E678A,Missense_E635A,Silent exm930812 11 66328773 [T/C] NM_001258371,NM_001104,NR_047663 ACTN3,ACTN3,ACTN3 EXON Missense_R689W,Missense_R646W,Silent exm930814 11 66328803 [A/G] NM_001258371,NM_001104,NR_047663 ACTN3,ACTN3,ACTN3 EXON Missense_I699V,Missense_I656V,Silent exm2250176 11 66329024 [T/C] NM_001258371,NM_001104,NR_047663 ACTN3,ACTN3,ACTN3 EXON Synonymous_T740T,Synonymous_T697T,Silent exm930834 11 66329639 [A/G] NM_001258371,NM_001104,NR_047663 ACTN3,ACTN3,ACTN3 EXON Synonymous_R817R,Synonymous_R774R,Silent exm930835 11 66329732 [A/G] NM_001258371,NM_001104,NR_047663 ACTN3,ACTN3,ACTN3 EXON Missense_Q819R,Missense_Q776R,Silent exm930838 11 66329762 [A/G] NM_001258371,NM_001104,NR_047663 ACTN3,ACTN3,ACTN3 EXON Missense_R829Q,Missense_R786Q,Silent exm930845 11 66330310 [A/G] NM_001258371,NM_001104,NR_047663 ACTN3,ACTN3,ACTN3 EXON Missense_N854S,Missense_N811S,Silent exm930847 11 66330358 [A/G] NM_001258371,NM_001104,NR_047663 ACTN3,ACTN3,ACTN3 EXON Missense_R870Q,Missense_R827Q,Silent exm930848 11 66330379 [T/C] NM_001258371,NM_001104,NR_047663 ACTN3,ACTN3,ACTN3 EXON Missense_T877M,Missense_T834M,Silent exm930850 11 66330524 [T/G] NM_001258371,NM_001104,NR_047663 ACTN3,ACTN3,ACTN3 EXON Nonsense_E899X,Nonsense_E856X,Silent exm930851 11 66330525 [A/T] NM_001258371,NM_001104,NR_047663 ACTN3,ACTN3,ACTN3 EXON Missense_E899V,Missense_E856V,Silent exm930854 11 66330533 [T/C] NM_001258371,NM_001104,NR_047663 ACTN3,ACTN3,ACTN3 EXON Missense_R902C,Missense_R859C,Silent exm930857 11 66330569 [T/C] NM_001258371,NM_001104,NR_047663 ACTN3,ACTN3,ACTN3 EXON Missense_R914C,Missense_R871C,Silent exm930863 11 66330599 [T/G] NM_001258371,NM_001104,NR_047663 ACTN3,ACTN3,ACTN3 EXON Missense_A924S,Missense_A881S,Silent exm930867 11 66330641 [T/C] NM_001258371,NM_001104,NR_047663 ACTN3,ACTN3,ACTN3 EXON Missense_L938F,Missense_L895F,Silent exm930882 11 66332029 [A/G] NM_003793 CTSF EXON Missense_R441C exm930896 11 66332390 [T/C] NM_003793 CTSF EXON Missense_N378S exm930897 11 66332423 [T/C] NM_003793 CTSF EXON Missense_N367S exm930898 11 66332479 [T/G] NM_003793 CTSF Silent exm930919 11 66333800 [C/G] NM_003793 CTSF EXON Missense_T228R exm930920 11 66333807 [A/G] NM_003793 CTSF EXON Missense_R226C exm930924 11 66333869 [A/C] NM_003793 CTSF EXON Missense_R205L exm930934 11 66334988 [T/C] NM_003793 CTSF EXON Missense_Q153R exm930937 11 66335028 [T/C] NM_003793 CTSF EXON Missense_A140T exm930967 11 66358140 [T/A] NM_018219 CCDC87 EXON Missense_L783M exm930969 11 66358182 [A/G] NM_018219 CCDC87 EXON Nonsense_R769X exm930971 11 66358238 [T/C] NM_018219 CCDC87 EXON Missense_R750H exm930972 11 66358274 [A/C] NM_018219 CCDC87 EXON Missense_L738R exm930973 11 66358295 [T/C] NM_018219 CCDC87 EXON Missense_R731Q exm1730829 11 66358352 [T/C] NM_018219 CCDC87 EXON Missense_R712K exm930976 11 66358359 [A/G] NM_018219 CCDC87 EXON Missense_R710C exm2250177 11 66359101 [A/G] NM_018219 CCDC87 EXON Synonymous_A462A exm931011 11 66359309 [T/C] NM_018219 CCDC87 EXON Missense_H393R exm931015 11 66359450 [A/G] NM_018219 CCDC87 EXON Missense_P346L exm931019 11 66359489 [T/C] NM_018219 CCDC87 EXON Missense_R333H exm931034 11 66359781 [G/C] NM_018219 CCDC87 EXON Missense_P236A exm931041 11 66359958 [T/C] NM_018219 CCDC87 EXON Missense_A177T exm931051 11 66360080 [A/G] NM_018219 CCDC87 EXON Missense_V136A exm1730843 11 66360206 [A/C] NM_018219 CCDC87 EXON Missense_S94I exm931073 11 66366682 [A/G] NM_005125 CCS EXON Missense_G70R exm931075 11 66366686 [A/G] NM_005125 CCS EXON Missense_R71Q exm931076 11 66366715 [A/G] NM_005125 CCS EXON Missense_G81S exm931081 11 66366974 [A/G] NM_005125 CCS EXON Missense_V99M exm931082 11 66366986 [G/C] NM_005125 CCS EXON Missense_V103L exm931091 11 66368018 [T/C] NM_005125 CCS EXON Missense_R163W exm931101 11 66372887 [A/G] NM_005125 CCS EXON Synonymous_K189K exm931111 11 66373240 [A/G] NM_005125 CCS EXON Missense_D247N exm931128 11 66391736 [T/C] NM_001198836,NM_001198845,NM_001198846,NM_006328,NM_001198837 RBM14,RBM14-RBM4,RBM14-RBM4,RBM14,RBM14 EXON Missense_A130V,Silent,Silent,Missense_A130V,Silent exm931134 11 66391928 [C/G] NM_001198836,NM_001198845,NM_001198846,NM_006328,NM_001198837 RBM14,RBM14-RBM4,RBM14-RBM4,RBM14,RBM14 EXON Silent,Silent,Silent,Missense_S194T,Silent exm931152 11 66392297 [C/G] NM_001198836,NM_001198845,NM_001198846,NM_006328,NM_001198837 RBM14,RBM14-RBM4,RBM14-RBM4,RBM14,RBM14 EXON Silent,Silent,Silent,Missense_S317C,Silent exm931162 11 66392395 [A/G] NM_001198836,NM_001198845,NM_001198846,NM_006328,NM_001198837 RBM14,RBM14-RBM4,RBM14-RBM4,RBM14,RBM14 EXON Silent,Silent,Silent,Missense_A350T,Silent exm931165 11 66392434 [T/G] NM_001198836,NM_001198845,NM_001198846,NM_006328,NM_001198837 RBM14,RBM14-RBM4,RBM14-RBM4,RBM14,RBM14 EXON Silent,Silent,Silent,Missense_S363A,Silent exm931169 11 66392479 [A/G] NM_001198836,NM_001198845,NM_001198846,NM_006328,NM_001198837 RBM14,RBM14-RBM4,RBM14-RBM4,RBM14,RBM14 EXON Silent,Silent,Silent,Missense_G378R,Silent exm931179 11 66392711 [C/G] NM_001198836,NM_001198845,NM_001198846,NM_006328,NM_001198837 RBM14,RBM14-RBM4,RBM14-RBM4,RBM14,RBM14 EXON Silent,Silent,Silent,Missense_T455S,Silent exm1730899 11 66392785 [A/G] NM_001198836,NM_001198845,NM_001198846,NM_006328,NM_001198837 RBM14,RBM14-RBM4,RBM14-RBM4,RBM14,RBM14 EXON Silent,Silent,Silent,Missense_M480V,Silent exm2276190 11 66392825 [C/G] NM_001198836,NM_001198845,NM_001198846,NM_006328,NM_001198837 RBM14,RBM14-RBM4,RBM14-RBM4,RBM14,RBM14 EXON Silent,Silent,Silent,Missense_A493G,Silent exm1730922 11 66411148 [A/G] NM_001198845,NM_001198846,NM_002896,NM_001198844,NM_001198843 RBM14-RBM4,RBM14-RBM4,RBM4,RBM4,RBM4 EXON Missense_A189T,Silent,Missense_A214T,Silent,Silent exm931261 11 66436111 [T/C] NM_031492 RBM4B EXON Missense_R355Q exm931267 11 66436151 [T/C] NM_031492 RBM4B EXON Missense_M342V exm931271 11 66436214 [T/C] NM_031492 RBM4B EXON Missense_G321S exm931273 11 66436252 [A/C] NM_031492 RBM4B EXON Missense_R308L exm931277 11 66436334 [T/C] NM_031492 RBM4B EXON Missense_A281T exm931289 11 66436490 [A/G] NM_031492 RBM4B EXON Missense_Y229H exm931291 11 66436501 [T/C] NM_031492 RBM4B EXON Missense_R225Q exm931311 11 66453406 [T/C] NM_006946 SPTBN2 EXON Missense_R2370H exm931337 11 66454564 [A/G] NM_006946 SPTBN2 EXON Missense_A2266V exm931342 11 66454610 [A/G] NM_006946 SPTBN2 EXON Missense_R2251W exm931349 11 66455048 [A/G] NM_006946 SPTBN2 EXON Missense_P2191L exm931368 11 66456178 [C/G] NM_006946 SPTBN2 EXON Missense_Q2059H exm931370 11 66456216 [T/C] NM_006946 SPTBN2 EXON Missense_E2047K exm931377 11 66456590 [T/C] NM_006946 SPTBN2 EXON Missense_E2004G exm931378 11 66456617 [T/C] NM_006946 SPTBN2 EXON Missense_R1995H exm931380 11 66456621 [A/G] NM_006946 SPTBN2 EXON Missense_R1994W exm931386 11 66457341 [A/G] NM_006946 SPTBN2 EXON Missense_R1962C exm931399 11 66457639 [T/C] NM_006946 SPTBN2 EXON Missense_G1894E exm931402 11 66457681 [T/C] NM_006946 SPTBN2 EXON Missense_R1880H exm931407 11 66458825 [A/C] NM_006946 SPTBN2 EXON Missense_L1832R exm931423 11 66459044 [T/C] NM_006946 SPTBN2 EXON Missense_N1759S exm931432 11 66460098 [T/C] NM_006946 SPTBN2 EXON Missense_R1700H exm931447 11 66460505 [T/C] NM_006946 SPTBN2 EXON Missense_A1641T exm931457 11 66460877 [A/G] NM_006946 SPTBN2 EXON Missense_A1545V exm931472 11 66461666 [A/G] NM_006946 SPTBN2 EXON Missense_R1483C exm931475 11 66461674 [T/C] NM_006946 SPTBN2 EXON Missense_R1480H exm931476 11 66461675 [A/G] NM_006946 SPTBN2 EXON Missense_R1480C exm931481 11 66461739 [A/C] NM_006946 SPTBN2 EXON Missense_E1458D exm931489 11 66464004 [T/C] NM_006946 SPTBN2 EXON Missense_R1341Q exm931507 11 66466530 [A/G] NM_006946 SPTBN2 EXON Missense_A1267V exm931514 11 66466931 [T/C] NM_006946 SPTBN2 EXON Missense_E1241G exm931519 11 66466967 [T/C] NM_006946 SPTBN2 EXON Missense_H1229R exm931520 11 66466982 [T/C] NM_006946 SPTBN2 EXON Missense_N1224S exm931536 11 66468173 [A/G] NM_006946 SPTBN2 EXON Missense_R1133W exm931550 11 66468406 [T/C] NM_006946 SPTBN2 EXON Missense_R1055Q exm931553 11 66468434 [T/C] NM_006946 SPTBN2 EXON Missense_G1046S exm931554 11 66468454 [T/C] NM_006946 SPTBN2 EXON Missense_R1039Q exm931556 11 66468461 [T/C] NM_006946 SPTBN2 EXON Missense_N1037D exm931557 11 66468469 [A/G] NM_006946 SPTBN2 EXON Missense_V1034A exm931620 11 66472550 [T/C] NM_006946 SPTBN2 EXON Missense_E733K exm931622 11 66472585 [T/C] NM_006946 SPTBN2 EXON Missense_R721H exm931639 11 66473305 [A/G] NM_006946 SPTBN2 EXON Missense_R553W exm931647 11 66475184 [T/C] NM_006946 SPTBN2 EXON Missense_A486T exm931676 11 66478499 [A/G] NM_006946 SPTBN2 EXON Synonymous_D258D exm2250182 11 66481582 [A/G] NM_006946 SPTBN2 EXON Synonymous_N212N exm931684 11 66481628 [T/C] NM_006946 SPTBN2 EXON Missense_N197S exm931688 11 66482770 [T/C] NM_006946 SPTBN2 EXON Missense_M136V exm1731151 11 66526569 [T/C] NR_048553,NM_024650 C11orf80,C11orf80 Silent,Silent exm931724 11 66555733 [T/C] NR_048553,NM_024650 C11orf80,C11orf80 EXON Silent,Missense_I209T exm2250185 11 66563817 [T/C] NR_048553,NM_024650 C11orf80,C11orf80 EXON Silent,Synonymous_I233I exm931730 11 66568548 [T/G] NR_048553,NM_024650 C11orf80,C11orf80 EXON Silent,Missense_L274V exm931734 11 66571509 [A/C] NR_048553,NM_024650 C11orf80,C11orf80 EXON Silent,Missense_H296N exm931741 11 66581457 [T/C] NR_048553,NM_024650 C11orf80,C11orf80 EXON Silent,Missense_I387T exm931745 11 66583548 [A/T] NR_048553,NM_024650 C11orf80,C11orf80 EXON Silent,Missense_Y405F exm931756 11 66589212 [T/G] NR_048553,NM_024650 C11orf80,C11orf80 EXON Silent,Nonsense_E479X exm931761 11 66590120 [T/G] NR_048553,NM_024650 C11orf80,C11orf80 EXON Silent,Missense_R515L exm931767 11 66610418 [A/G] NR_048553,NM_024650 C11orf80,C11orf80 EXON Silent,Missense_E616K exm2250186 11 66610645 [C/G] NR_048553,NM_024650 C11orf80,C11orf80 EXON Silent,Synonymous_V658V exm931782 11 66611230 [A/G] NM_001032279,NM_005133 RCE1,RCE1 EXON Silent,Synonymous_R62R exm1731227 11 66616472 [A/C] NM_022172,NM_000920,NM_001040716 PC,PC,PC EXON Missense_M1145I,Missense_M1145I,Missense_M1145I exm931827 11 66616516 [T/C] NM_022172,NM_000920,NM_001040716 PC,PC,PC EXON Missense_V1131M,Missense_V1131M,Missense_V1131M exm2274507 11 66616521 [A/G] NM_022172,NM_000920,NM_001040716 PC,PC,PC EXON Missense_A1129V,Missense_A1129V,Missense_A1129V exm931832 11 66616566 [A/G] NM_022172,NM_000920,NM_001040716 PC,PC,PC EXON Missense_A1114V,Missense_A1114V,Missense_A1114V exm931838 11 66616777 [G/C] NM_022172,NM_000920,NM_001040716 PC,PC,PC EXON Missense_A1071G,Missense_A1071G,Missense_A1071G exm931842 11 66616819 [A/G] NM_022172,NM_000920,NM_001040716 PC,PC,PC EXON Missense_T1057M,Missense_T1057M,Missense_T1057M exm931844 11 66617122 [T/C] NM_022172,NM_000920,NM_001040716 PC,PC,PC EXON Missense_R1036H,Missense_R1036H,Missense_R1036H exm931858 11 66617502 [A/G] NM_022172,NM_000920,NM_001040716 PC,PC,PC EXON Missense_A935V,Missense_A935V,Missense_A935V exm931881 11 66618369 [A/G] NM_022172,NM_000920,NM_001040716 PC,PC,PC EXON Missense_T750M,Missense_T750M,Missense_T750M exm931891 11 66618734 [T/G] NM_022172,NM_000920,NM_001040716 PC,PC,PC EXON Missense_K667T,Missense_K667T,Missense_K667T exm931931 11 66620853 [G/C] NM_022172,NM_000920,NM_001040716 PC,PC,PC EXON Missense_T457S,Missense_T457S,Missense_T457S exm931938 11 66625492 [A/G] NM_022172,NM_000920,NM_001040716,NM_024036 PC,PC,PC,LRFN4 EXON Silent,Silent,Silent,Missense_G93R exm931983 11 66626461 [A/G] NM_022172,NM_000920,NM_001040716,NM_024036 PC,PC,PC,LRFN4 EXON Silent,Silent,Silent,Missense_A416T exm931987 11 66626545 [A/G] NM_022172,NM_000920,NM_001040716,NM_024036 PC,PC,PC,LRFN4 EXON Silent,Silent,Silent,Missense_D444N exm931988 11 66626557 [A/G] NM_022172,NM_000920,NM_001040716,NM_024036 PC,PC,PC,LRFN4 EXON Silent,Silent,Silent,Missense_I448V exm931992 11 66627151 [A/G] NM_022172,NM_000920,NM_001040716,NM_024036 PC,PC,PC,LRFN4 EXON Silent,Silent,Silent,Missense_V465I exm932056 11 66638282 [T/C] NM_022172,NM_000920,NM_001040716 PC,PC,PC EXON Missense_I239V,Missense_I239V,Missense_I239V exm932061 11 66638585 [T/C] NM_022172,NM_000920,NM_001040716 PC,PC,PC EXON Missense_I191V,Missense_I191V,Missense_I191V exm932067 11 66638660 [T/C] NM_022172,NM_000920,NM_001040716 PC,PC,PC EXON Missense_V166I,Missense_V166I,Missense_V166I exm932069 11 66638787 [T/C] NM_022172,NM_000920,NM_001040716 PC,PC,PC EXON Synonymous_A162A,Synonymous_A162A,Synonymous_A162A exm932084 11 66639542 [T/C] NM_022172,NM_000920,NM_001040716 PC,PC,PC EXON Missense_R30Q,Missense_R30Q,Missense_R30Q exm932085 11 66639543 [A/G] NM_022172,NM_000920,NM_001040716 PC,PC,PC EXON Missense_R30W,Missense_R30W,Missense_R30W exm932086 11 66639546 [T/C] NM_022172,NM_000920,NM_001040716 PC,PC,PC EXON Missense_V29I,Missense_V29I,Missense_V29I exm932104 11 66743098 [T/C] NM_001136485 C11orf86 EXON Missense_R89W exm932105 11 66743675 [A/G] NM_001136485 C11orf86 EXON Missense_V101I exm932110 11 66797648 [T/C] NM_001177880,NM_177963 SYT12,SYT12 EXON Synonymous_S11S,Synonymous_S11S exm932119 11 66802253 [A/G] NM_001177880,NM_177963 SYT12,SYT12 EXON Missense_D58N,Missense_D58N exm932140 11 66807561 [A/C] NM_001177880,NM_177963 SYT12,SYT12 EXON Missense_N170H,Missense_N170H exm932156 11 66811214 [A/G] NM_001177880,NM_177963 SYT12,SYT12 EXON Missense_D243N,Missense_D243N exm932158 11 66811286 [C/G] NM_001177880,NM_177963 SYT12,SYT12 EXON Missense_P267A,Missense_P267A exm932160 11 66811305 [A/G] NM_001177880,NM_177963 SYT12,SYT12 EXON Missense_Y273C,Missense_Y273C exm932167 11 66812144 [C/G] NM_001177880,NM_177963 SYT12,SYT12 EXON Missense_K306N,Missense_K306N exm932171 11 66813216 [T/C] NM_001177880,NM_177963 SYT12,SYT12 EXON Synonymous_D320D,Synonymous_D320D exm932172 11 66813223 [A/G] NM_001177880,NM_177963 SYT12,SYT12 EXON Missense_V323I,Missense_V323I exm2219293 11 66816064 [T/C] NM_001177880,NM_177963 SYT12,SYT12 EXON Missense_L368F,Missense_L368F exm932187 11 66816101 [A/G] NM_001177880,NM_177963 SYT12,SYT12 EXON Missense_R380H,Missense_R380H exm1731371 11 66816196 [A/G] NM_001177880,NM_177963 SYT12,SYT12 EXON Missense_V412M,Missense_V412M exm932196 11 66816211 [A/G] NM_001177880,NM_177963 SYT12,SYT12 EXON Missense_A417T,Missense_A417T exm932197 11 66816221 [A/G] NM_001177880,NM_177963 SYT12,SYT12 EXON Missense_R420Q,Missense_R420Q exm-rs7112925 11 66826160 [T/C] NM_014578 RHOD Silent exm2267187 11 66832528 [A/G] NM_014578 RHOD Silent exm932201 11 66833431 [A/G] NM_014578 RHOD EXON Missense_H66R exm932204 11 66834221 [A/G] NM_014578 RHOD EXON Missense_Y78C exm932205 11 66834232 [T/C] NM_014578 RHOD EXON Missense_R82W exm932213 11 66837996 [A/G] NM_014578 RHOD EXON Missense_R144Q exm-rs4375446 11 66910826 [T/C] NR_027473,NM_012308 KDM2A,KDM2A Silent,Silent exm932234 11 66995590 [A/G] NR_027473,NM_012308 KDM2A,KDM2A EXON Silent,Missense_R347H exm932242 11 66999244 [A/G] NR_027473,NM_012308 KDM2A,KDM2A EXON Silent,Missense_R431Q exm932279 11 67017968 [A/C] NR_027473,NM_012308,NM_001256405 KDM2A,KDM2A,KDM2A EXON Silent,Missense_T823P,Missense_T384P exm932304 11 67022396 [A/G] NR_027473,NM_012308,NM_001256405 KDM2A,KDM2A,KDM2A EXON Silent,Missense_N1120S,Missense_N681S exm932320 11 67046914 [T/C] NM_001619 ADRBK1 EXON Missense_T97M exm1731561 11 67046971 [A/G] NM_001619 ADRBK1 EXON Missense_E116G exm932333 11 67048203 [T/C] NM_001619 ADRBK1 EXON Synonymous_S168S exm2219297 11 67049397 [T/C] NM_001619 ADRBK1 EXON Missense_R311C exm932361 11 67049953 [T/C] NM_001619 ADRBK1 EXON Missense_A367V exm932429 11 67059166 [A/G] NM_207354,NR_030767 ANKRD13D,ANKRD13D EXON Missense_E164K,Silent exm932442 11 67059611 [A/G] NM_207354,NR_030767 ANKRD13D,ANKRD13D EXON Missense_V231I,Silent exm2271618 11 67065889 [T/C] NM_207354,NR_030767 ANKRD13D,ANKRD13D Silent,Silent exm932470 11 67068830 [A/G] NM_207354,NR_030767 ANKRD13D,ANKRD13D EXON Missense_V437M,Silent exm2250192 11 67068859 [T/C] NM_207354,NR_030767 ANKRD13D,ANKRD13D EXON Synonymous_V446V,Silent exm932473 11 67068859 [T/C] NM_207354,NR_030767 ANKRD13D,ANKRD13D EXON Synonymous_V446V,Silent exm932514 11 67072333 [T/C] NM_017857 SSH3 EXON Missense_T65I exm932515 11 67072375 [G/C] NM_017857 SSH3 EXON Missense_T79R exm932527 11 67074345 [T/C] NM_017857 SSH3 EXON Missense_R126C exm932531 11 67074393 [A/G] NM_017857 SSH3 EXON Missense_D142N exm932559 11 67075354 [A/G] NM_017857 SSH3 EXON Missense_A277T exm932560 11 67075412 [A/T] NM_017857 SSH3 Silent exm932564 11 67075687 [T/C] NM_017857 SSH3 EXON Nonsense_Q310X exm932565 11 67075694 [A/G] NM_017857 SSH3 EXON Missense_R312H exm932567 11 67075735 [T/C] NM_017857 SSH3 EXON Missense_R326W exm932579 11 67076975 [T/C] NM_017857 SSH3 EXON Missense_P390L exm932582 11 67077254 [A/C] NM_017857 SSH3 EXON Missense_H408Q exm932585 11 67077292 [T/C] NM_017857 SSH3 EXON Missense_A421V exm932591 11 67077382 [A/G] NM_017857 SSH3 EXON Missense_R451H exm932597 11 67077605 [T/C] NM_017857 SSH3 EXON Missense_V493A exm932608 11 67077712 [T/C] NM_017857 SSH3 EXON Missense_R529W exm932616 11 67079143 [A/G] NM_017857 SSH3 EXON Missense_V589M exm932626 11 67079303 [A/G] NM_017857 SSH3 EXON Missense_R642Q exm1731732 11 67119477 [A/G] NR_024469,NR_046412,NM_021173,NR_046411,NM_001256870,NR_046413 LOC100130987,POLD4,POLD4,POLD4,POLD4,POLD4 EXON Silent,Silent,Missense_Y105H,Silent,Synonymous_S67S,Silent exm932648 11 67120792 [T/C] NR_024469,NR_046412,NM_021173,NR_046411,NM_001256870,NR_046413 LOC100130987,POLD4,POLD4,POLD4,POLD4,POLD4 EXON Silent,Silent,Missense_E27K,Silent,Missense_E27K,Silent exm932676 11 67132893 [T/C] NR_024469,NM_013246,NM_001166212 LOC100130987,CLCF1,CLCF1 EXON Silent,Missense_R131H,Missense_R121H exm932679 11 67132920 [T/C] NR_024469,NM_013246,NM_001166212 LOC100130987,CLCF1,CLCF1 EXON Silent,Missense_R122H,Missense_R112H exm2274508 11 67134974 [G/C] NR_024469,NM_013246,NM_001166212 LOC100130987,CLCF1,CLCF1 EXON Silent,Missense_T47S,Missense_T37S exm932694 11 67135002 [A/G] NR_024469,NM_013246,NM_001166212 LOC100130987,CLCF1,CLCF1 EXON Silent,Missense_P38S,Missense_P28S exm932699 11 67135026 [A/G] NR_024469,NM_013246,NM_001166212 LOC100130987,CLCF1,CLCF1 EXON Silent,Missense_R30C,Missense_R20C exm932712 11 67160210 [C/G] NM_004584 RAD9A EXON Missense_A64G exm932713 11 67160224 [A/G] NM_004584 RAD9A EXON Missense_D69N exm932720 11 67161030 [T/G] NM_004584,NM_001243224 RAD9A,RAD9A EXON Missense_S100A,Missense_S24A exm932733 11 67161231 [T/C] NM_004584,NM_001243224 RAD9A,RAD9A EXON Missense_S140L,Missense_S64L exm932734 11 67161260 [T/C] NM_004584,NM_001243224 RAD9A,RAD9A EXON Missense_R150W,Missense_R74W exm932737 11 67163251 [T/C] NM_004584,NM_001243224 RAD9A,RAD9A EXON Missense_R172C,Missense_R96C exm932739 11 67163273 [A/G] NM_004584,NM_001243224 RAD9A,RAD9A EXON Missense_R179H,Missense_R103H exm932748 11 67163609 [A/G] NM_004584,NM_001243224 RAD9A,RAD9A EXON Missense_N233D,Missense_N157D exm932749 11 67163618 [T/C] NM_004584,NM_001243224 RAD9A,RAD9A EXON Missense_L236F,Missense_L160F exm932750 11 67163628 [A/G] NM_004584,NM_001243224 RAD9A,RAD9A EXON Missense_H239R,Missense_H163R exm932752 11 67163734 [A/G] NM_004584,NM_001243224 RAD9A,RAD9A EXON Synonymous_R245R,Synonymous_R169R exm932756 11 67163780 [A/G] NM_004584,NM_001243224 RAD9A,RAD9A EXON Missense_V261I,Missense_V185I exm932767 11 67164691 [T/C] NM_004584,NM_001243224 RAD9A,RAD9A EXON Missense_S305F,Missense_S229F exm932769 11 67164720 [A/G] NM_004584,NM_001243224 RAD9A,RAD9A EXON Missense_G315S,Missense_G239S exm932778 11 67164959 [T/A] NM_004584,NM_001243224 RAD9A,RAD9A EXON Missense_I369F,Missense_I293F exm1731800 11 67171801 [T/C] NM_198517,NM_001256508,NR_046266 TBC1D10C,TBC1D10C,TBC1D10C EXON Missense_I43T,Missense_I43T,Silent exm932840 11 67172591 [A/G] NM_198517,NM_001256508,NR_046266 TBC1D10C,TBC1D10C,TBC1D10C EXON Missense_R63Q,Missense_R63Q,Silent exm932865 11 67174340 [T/C] NM_198517,NM_001256508,NR_046266 TBC1D10C,TBC1D10C,TBC1D10C EXON Missense_R231W,Silent,Silent exm2219301 11 67174476 [T/G] NM_198517,NM_001256508,NR_046266 TBC1D10C,TBC1D10C,TBC1D10C EXON Missense_F276C,Silent,Silent exm932882 11 67176572 [A/G] NM_198517,NM_001256508,NR_046266 TBC1D10C,TBC1D10C,TBC1D10C EXON Missense_A321T,Missense_R256H,Silent exm932884 11 67176584 [A/G] NM_198517,NM_001256508,NR_046266 TBC1D10C,TBC1D10C,TBC1D10C EXON Missense_E325K,Missense_G260E,Silent exm932887 11 67176915 [A/G] NM_198517,NM_001256508,NR_046266 TBC1D10C,TBC1D10C,TBC1D10C EXON Missense_R344Q,Synonymous_A279A,Silent exm932896 11 67177092 [T/G] NM_198517,NM_001256508,NR_046266 TBC1D10C,TBC1D10C,TBC1D10C EXON Missense_R403I,Silent,Silent exm932899 11 67177100 [T/C] NM_198517,NM_001256508,NR_046266 TBC1D10C,TBC1D10C,TBC1D10C EXON Missense_R406W,Silent,Silent exm932903 11 67177154 [T/C] NM_198517,NM_001256508,NR_046266 TBC1D10C,TBC1D10C,TBC1D10C EXON Missense_R424W,Silent,Silent exm1731821 11 67177218 [A/G] NM_198517,NM_001256508,NR_046266 TBC1D10C,TBC1D10C,TBC1D10C EXON Missense_R445H,Silent,Silent exm932917 11 67186271 [A/C] NM_001166222,NM_020811 CARNS1,CARNS1 EXON Missense_P137T,Missense_P14T exm932935 11 67186613 [G/C] NM_001166222,NM_020811 CARNS1,CARNS1 EXON Missense_L251V,Missense_L128V exm1731825 11 67186686 [A/G] NM_001166222,NM_020811 CARNS1,CARNS1 EXON Missense_R275H,Missense_R152H exm932952 11 67187263 [C/G] NM_001166222,NM_020811 CARNS1,CARNS1 EXON Missense_C356S,Missense_C233S exm932963 11 67190867 [T/C] NM_001166222,NM_020811 CARNS1,CARNS1 EXON Missense_P550S,Missense_P427S exm932965 11 67190928 [A/G] NM_001166222,NM_020811 CARNS1,CARNS1 EXON Missense_R570Q,Missense_R447Q exm932977 11 67191327 [A/G] NM_001166222,NM_020811 CARNS1,CARNS1 EXON Missense_R703Q,Missense_R580Q exm932985 11 67191470 [A/G] NM_001166222,NM_020811 CARNS1,CARNS1 EXON Missense_D751N,Missense_D628N exm1731841 11 67191707 [T/C] NM_001166222,NM_020811 CARNS1,CARNS1 EXON Missense_Y830H,Missense_Y707H exm933008 11 67191854 [T/C] NM_001166222,NM_020811 CARNS1,CARNS1 EXON Missense_R879C,Missense_R756C exm933036 11 67197026 [T/C] NM_003952 RPS6KB2 EXON Missense_T90I exm933040 11 67198839 [A/G] NM_003952 RPS6KB2 EXON Missense_A104T exm933043 11 67198855 [A/G] NM_003952 RPS6KB2 EXON Missense_N109S exm933046 11 67198887 [T/C] NM_003952 RPS6KB2 EXON Missense_R120W exm933054 11 67200072 [T/G] NM_003952 RPS6KB2 EXON Synonymous_G153G exm933061 11 67200270 [A/G] NM_003952 RPS6KB2 EXON Missense_R193Q exm933070 11 67200513 [T/C] NM_003952 RPS6KB2 EXON Missense_M236T exm933077 11 67200687 [A/G] NM_003952 RPS6KB2 EXON Synonymous_S266S exm933078 11 67200812 [T/C] NM_003952 RPS6KB2 EXON Missense_P267L exm933089 11 67201891 [A/G] NM_003952 RPS6KB2 EXON Missense_R364Q exm933093 11 67201947 [T/G] NM_003952 RPS6KB2 EXON Missense_A383S exm933119 11 67202635 [T/C] NM_003952 RPS6KB2 EXON Missense_R482C exm933127 11 67203361 [A/G] NM_005608 PTPRCAP EXON Missense_T155M exm933128 11 67203388 [T/C] NM_005608 PTPRCAP EXON Missense_R146Q exm933129 11 67203389 [A/G] NM_005608 PTPRCAP EXON Missense_R146W exm1731897 11 67203434 [T/C] NM_005608 PTPRCAP EXON Missense_E131K exm933131 11 67203442 [T/C] NM_005608 PTPRCAP EXON Missense_G128E exm933134 11 67203470 [T/C] NM_005608 PTPRCAP EXON Missense_A119T exm933145 11 67203755 [T/C] NM_005608 PTPRCAP EXON Missense_S24G exm933156 11 67205869 [T/C] NM_001018070,NM_020441 CORO1B,CORO1B EXON Missense_R483H,Missense_R483H exm2219308 11 67205890 [A/C] NM_001018070,NM_020441 CORO1B,CORO1B EXON Missense_R476L,Missense_R476L exm933159 11 67205903 [T/C] NM_001018070,NM_020441 CORO1B,CORO1B EXON Missense_D472N,Missense_D472N exm933161 11 67205947 [A/C] NM_001018070,NM_020441 CORO1B,CORO1B EXON Missense_M457R,Missense_M457R exm933169 11 67206234 [T/C] NM_001018070,NM_020441 CORO1B,CORO1B EXON Missense_A418T,Missense_A418T exm933171 11 67206239 [T/C] NM_001018070,NM_020441 CORO1B,CORO1B EXON Missense_R416Q,Missense_R416Q exm933174 11 67206263 [A/C] NM_001018070,NM_020441 CORO1B,CORO1B EXON Missense_R408L,Missense_R408L exm933178 11 67206330 [T/C] NM_001018070,NM_020441 CORO1B,CORO1B EXON Missense_D386N,Missense_D386N exm933186 11 67207277 [T/C] NM_001018070,NM_020441 CORO1B,CORO1B EXON Missense_V349I,Missense_V349I exm933193 11 67207671 [T/C] NM_001018070,NM_020441 CORO1B,CORO1B EXON Missense_T309A,Missense_T309A exm933197 11 67207811 [T/C] NM_001018070,NM_020441 CORO1B,CORO1B EXON Missense_G286S,Missense_G286S exm933212 11 67208630 [T/C] NM_001018070,NM_020441 CORO1B,CORO1B EXON Missense_R241Q,Missense_R241Q exm933217 11 67208820 [T/C] NM_001018070,NM_020441 CORO1B,CORO1B EXON Missense_R207Q,Missense_R207Q exm933224 11 67208932 [A/G] NM_001018070,NM_020441 CORO1B,CORO1B EXON Missense_R170C,Missense_R170C exm933225 11 67208946 [A/G] NM_001018070,NM_020441 CORO1B,CORO1B EXON Missense_A165V,Missense_A165V exm933230 11 67209291 [G/C] NM_001018070,NM_020441 CORO1B,CORO1B EXON Missense_E123Q,Missense_E123Q exm933240 11 67209558 [A/G] NM_001018070,NM_020441 CORO1B,CORO1B EXON Missense_T68M,Missense_T68M exm933248 11 67218787 [A/G] NM_206997 GPR152 EXON Missense_T470M exm933249 11 67218797 [T/C] NM_206997 GPR152 EXON Missense_A467T exm933278 11 67219151 [A/G] NM_206997 GPR152 EXON Nonsense_Q349X exm933284 11 67219231 [A/G] NM_206997 GPR152 EXON Missense_P322L exm933285 11 67219234 [T/C] NM_206997 GPR152 EXON Missense_R321Q exm933294 11 67219271 [T/C] NM_206997 GPR152 EXON Missense_V309M exm933295 11 67219289 [A/G] NM_206997 GPR152 EXON Missense_R303W exm933299 11 67219436 [T/G] NM_206997 GPR152 EXON Missense_Q254K exm933302 11 67219462 [A/G] NM_206997 GPR152 EXON Missense_A245V exm933304 11 67219486 [T/C] NM_206997 GPR152 EXON Missense_R237H exm933311 11 67219628 [T/C] NM_206997 GPR152 EXON Missense_E190K exm933312 11 67219664 [T/C] NM_206997 GPR152 EXON Missense_D178N exm933316 11 67219723 [A/G] NM_206997 GPR152 EXON Missense_L158P exm933329 11 67219993 [A/T] NM_206997 GPR152 EXON Missense_L68Q exm933334 11 67220015 [T/C] NM_206997 GPR152 EXON Missense_G61R exm933337 11 67220044 [A/G] NM_206997 GPR152 EXON Missense_A51V exm933350 11 67222947 [A/G] NM_145200 CABP4 EXON Missense_R18H exm933354 11 67223049 [A/G] NM_145200 CABP4 EXON Missense_R52Q exm933364 11 67223175 [A/G] NM_145200 CABP4 EXON Missense_R94H exm933366 11 67223193 [A/G] NM_145200 CABP4 EXON Missense_R100H exm933373 11 67223662 [T/C] NM_145200 CABP4 EXON Missense_R124C exm933375 11 67223688 [T/C] NM_145200 CABP4 EXON Synonymous_D132D exm933377 11 67223827 [A/G] NM_145200 CABP4 EXON Missense_R152Q exm933387 11 67225100 [A/G] NM_145200 CABP4 EXON Missense_E200K exm933388 11 67225107 [T/C] NM_145200 CABP4 EXON Missense_T202M exm933390 11 67225121 [C/G] NM_145200 CABP4 EXON Missense_G207R exm933392 11 67225148 [T/C] NM_145200 CABP4 EXON Nonsense_R216X exm933396 11 67225908 [A/G] NM_145200 CABP4 EXON Missense_G240R exm933400 11 67225977 [A/G] NM_145200 CABP4 EXON Missense_V263I exm933414 11 67232166 [A/G] NM_001078651,NR_073413,NR_073409,NR_073411,NM_025124,NM_001078650,NR_073410,NR_073412 TMEM134,TMEM134,TMEM134,TMEM134,TMEM134,TMEM134,TMEM134,TMEM134 EXON Synonymous_V160V,Silent,Silent,Silent,Synonymous_V169V,Synonymous_V154V,Silent,Silent exm933421 11 67232560 [A/C] NM_001078651,NR_073413,NR_073409,NR_073411,NM_025124,NM_001078650,NR_073410,NR_073412 TMEM134,TMEM134,TMEM134,TMEM134,TMEM134,TMEM134,TMEM134,TMEM134 EXON Missense_V131F,Silent,Silent,Silent,Missense_V140F,Silent,Silent,Silent exm933426 11 67235005 [T/C] NM_001078651,NR_073413,NR_073409,NR_073411,NM_025124,NM_001078650,NR_073410,NR_073412 TMEM134,TMEM134,TMEM134,TMEM134,TMEM134,TMEM134,TMEM134,TMEM134 EXON Missense_S90N,Silent,Silent,Silent,Missense_S99N,Missense_S99N,Silent,Silent exm933428 11 67235051 [A/G] NM_001078651,NR_073413,NR_073409,NR_073411,NM_025124,NM_001078650,NR_073410,NR_073412 TMEM134,TMEM134,TMEM134,TMEM134,TMEM134,TMEM134,TMEM134,TMEM134 EXON Silent,Silent,Silent,Silent,Nonsense_R84X,Nonsense_R84X,Silent,Silent exm933429 11 67235060 [A/C] NM_001078651,NR_073413,NR_073409,NR_073411,NM_025124,NM_001078650,NR_073410,NR_073412 TMEM134,TMEM134,TMEM134,TMEM134,TMEM134,TMEM134,TMEM134,TMEM134 EXON Silent,Silent,Silent,Silent,Missense_D81Y,Missense_D81Y,Silent,Silent exm933430 11 67235502 [A/G] NM_001078651,NR_073413,NR_073409,NR_073411,NM_025124,NM_001078650,NR_073410,NR_073412 TMEM134,TMEM134,TMEM134,TMEM134,TMEM134,TMEM134,TMEM134,TMEM134 EXON Missense_T79I,Silent,Silent,Silent,Missense_T79I,Missense_T79I,Silent,Silent exm933432 11 67235538 [A/G] NM_001078651,NR_073413,NR_073409,NR_073411,NM_025124,NM_001078650,NR_073410,NR_073412 TMEM134,TMEM134,TMEM134,TMEM134,TMEM134,TMEM134,TMEM134,TMEM134 EXON Missense_A67V,Silent,Silent,Silent,Missense_A67V,Missense_A67V,Silent,Silent exm2219313 11 67236509 [T/C] NM_001078651,NR_073413,NR_073409,NR_073411,NM_025124,NM_001078650,NR_073410,NR_073412 TMEM134,TMEM134,TMEM134,TMEM134,TMEM134,TMEM134,TMEM134,TMEM134 EXON Missense_Q52R,Silent,Silent,Silent,Missense_Q52R,Missense_Q52R,Silent,Silent exm933441 11 67250655 [A/G] NM_003977 AIP EXON Missense_R9Q exm933444 11 67250676 [A/G] NM_003977 AIP EXON Missense_R16H exm933445 11 67250697 [A/G] NM_003977 AIP EXON Missense_G23E exm1731988 11 67250701 [C/G] NM_003977 AIP EXON Missense_E24D exm933452 11 67254522 [A/G] NM_003977 AIP EXON Missense_V49M exm933472 11 67257557 [A/G] NM_003977 AIP EXON Missense_E173K exm933480 11 67257823 [A/C] NM_003977 AIP EXON Missense_Q228K exm933498 11 67258367 [T/C] NM_003977 AIP EXON Missense_A299V exm933500 11 67258382 [A/G] NM_003977 AIP EXON Missense_R304Q exm933501 11 67258391 [A/G] NM_003977 AIP EXON Missense_Q307R exm1732008 11 67258438 [T/C] NM_003977 AIP EXON Missense_R323W exm933507 11 67259518 [T/C] NM_004910,NM_001130848 PITPNM1,PITPNM1 EXON Missense_D1241N,Missense_D1240N exm933514 11 67259652 [G/C] NM_004910,NM_001130848 PITPNM1,PITPNM1 EXON Missense_A1196G,Missense_A1195G exm933556 11 67262411 [T/C] NM_004910,NM_001130848 PITPNM1,PITPNM1 EXON Missense_R883Q,Missense_R882Q exm2219315 11 67262421 [C/G] NM_004910,NM_001130848 PITPNM1,PITPNM1 EXON Missense_E880Q,Missense_E879Q exm933561 11 67262936 [A/G] NM_004910,NM_001130848 PITPNM1,PITPNM1 EXON Missense_P819S,Missense_P818S exm933581 11 67264794 [T/C] NM_004910,NM_001130848 PITPNM1,PITPNM1 EXON Missense_R685H,Missense_R685H exm933596 11 67265398 [T/C] NM_004910,NM_001130848 PITPNM1,PITPNM1 EXON Missense_R591H,Missense_R591H exm933601 11 67265444 [A/G] NM_004910,NM_001130848 PITPNM1,PITPNM1 EXON Missense_C576R,Missense_C576R exm933602 11 67265492 [T/C] NM_004910,NM_001130848 PITPNM1,PITPNM1 EXON Missense_A560T,Missense_A560T exm933606 11 67265636 [A/G] NM_004910,NM_001130848 PITPNM1,PITPNM1 EXON Missense_R548C,Missense_R548C exm933609 11 67265687 [T/C] NM_004910,NM_001130848 PITPNM1,PITPNM1 EXON Missense_A531T,Missense_A531T exm933610 11 67265698 [T/C] NM_004910,NM_001130848 PITPNM1,PITPNM1 EXON Missense_R527H,Missense_R527H exm933614 11 67265755 [T/C] NM_004910,NM_001130848 PITPNM1,PITPNM1 EXON Missense_R508H,Missense_R508H exm1732064 11 67266118 [T/C] NM_004910,NM_001130848 PITPNM1,PITPNM1 EXON Missense_R478Q,Missense_R478Q exm933625 11 67266164 [T/C] NM_004910,NM_001130848 PITPNM1,PITPNM1 EXON Missense_V463I,Missense_V463I exm1732065 11 67266176 [T/C] NM_004910,NM_001130848 PITPNM1,PITPNM1 EXON Missense_A459T,Missense_A459T exm933638 11 67266466 [C/G] NM_004910,NM_001130848 PITPNM1,PITPNM1 EXON Missense_G393A,Missense_G393A exm933640 11 67267199 [A/G] NM_004910,NM_001130848 PITPNM1,PITPNM1 EXON Missense_T389M,Missense_T389M exm933648 11 67267629 [T/C] NM_004910,NM_001130848 PITPNM1,PITPNM1 EXON Missense_D302N,Missense_D302N exm933660 11 67267871 [T/C] NM_004910,NM_001130848 PITPNM1,PITPNM1 EXON Missense_R221Q,Missense_R221Q exm933674 11 67269805 [T/C] NM_004910,NM_001130848 PITPNM1,PITPNM1 EXON Missense_V125I,Missense_V125I exm933701 11 67287263 [A/C] NM_016366 CABP2 Silent exm933704 11 67287311 [A/G] NM_016366 CABP2 EXON Missense_I197T exm933713 11 67288529 [T/C] NM_016366 CABP2 EXON Missense_E116K exm933719 11 67288594 [T/C] NM_016366 CABP2 EXON Missense_R94Q exm933723 11 67289440 [T/C] NM_016366 CABP2 EXON Missense_R76Q exm933727 11 67290042 [T/C] NM_016366 CABP2 EXON Missense_R63Q exm1732124 11 67290097 [T/C] NM_016366 CABP2 EXON Missense_V45I exm933748 11 67351964 [T/G] NM_000852 GSTP1 EXON Missense_A106S exm933755 11 67352183 [A/G] NM_000852 GSTP1 EXON Missense_D141N exm933757 11 67352192 [T/C] NM_000852 GSTP1 EXON Missense_L144F exm933762 11 67352689 [A/G] NM_000852 GSTP1 EXON Missense_I188V exm933764 11 67352705 [C/G] NM_000852 GSTP1 EXON Missense_T193S exm933771 11 67353654 [A/G] NM_000852 GSTP1 EXON Missense_G222E exm933772 11 67353669 [T/C] NM_000852 GSTP1 EXON Missense_I227T exm933774 11 67353887 [G/C] NM_000852 GSTP1 EXON Missense_D241H exm933815 11 67374518 [T/C] NM_007103,NM_001166102 NDUFV1,NDUFV1 EXON Missense_R15W,Missense_R15W exm1732176 11 67376023 [T/G] NM_007103,NM_001166102 NDUFV1,NDUFV1 EXON Missense_R52S,Missense_R43S exm933854 11 67377936 [T/C] NM_007103,NM_001166102 NDUFV1,NDUFV1 EXON Missense_R199C,Missense_R190C exm933881 11 67378982 [T/C] NM_007103,NM_001166102 NDUFV1,NDUFV1 EXON Missense_A341V,Missense_A332V exm933885 11 67379035 [T/C] NM_007103,NM_001166102 NDUFV1,NDUFV1 EXON Missense_R359C,Missense_R350C exm933896 11 67379641 [T/C] NM_007103,NM_001166102 NDUFV1,NDUFV1 EXON Missense_R405W,Missense_R396W exm933902 11 67379853 [A/G] NM_007103,NM_001166102 NDUFV1,NDUFV1 EXON Missense_R440H,Missense_R431H exm933931 11 67396431 [T/C] NM_181843,NM_001243750 NUDT8,NUDT8 EXON Missense_E96K,Missense_E96K exm933966 11 67400475 [T/A] NM_005995 TBX10 EXON Missense_S217T exm933970 11 67400513 [T/C] NM_005995 TBX10 EXON Missense_R204H exm933973 11 67400524 [G/C] NM_005995 TBX10 EXON Missense_F200L exm933976 11 67400552 [T/C] NM_005995 TBX10 EXON Missense_R191H exm933983 11 67401660 [A/G] NM_005995 TBX10 EXON Synonymous_H183H exm933987 11 67401722 [A/G] NM_005995 TBX10 EXON Missense_R163C exm933997 11 67402333 [A/T] NM_005995 TBX10 EXON Missense_Y111N exm933999 11 67402362 [T/G] NM_005995 TBX10 EXON Missense_K101T exm934002 11 67402483 [T/C] NM_005995 TBX10 EXON Missense_V87I exm934024 11 67410314 [T/C] NM_080658 ACY3 EXON Missense_V281M exm934027 11 67410325 [A/G] NM_080658 ACY3 EXON Missense_T277M exm1732283 11 67412266 [C/G] NM_080658 ACY3 EXON Missense_G237R exm934034 11 67412290 [T/C] NM_080658 ACY3 EXON Missense_V229M exm934049 11 67412839 [T/C] NM_080658 ACY3 EXON Missense_E149K exm934051 11 67413177 [T/A] NM_080658 ACY3 EXON Missense_C140S exm934071 11 67414319 [T/C] NM_080658 ACY3 EXON Missense_D66N exm934074 11 67414330 [T/C] NM_080658 ACY3 EXON Missense_R62H exm934078 11 67414352 [G/C] NM_080658 ACY3 EXON Missense_P55A exm934083 11 67414433 [T/C] NM_080658 ACY3 EXON Missense_V28I exm934090 11 67414492 [T/C] NM_080658 ACY3 EXON Missense_R8Q exm934095 11 67430720 [A/C] NM_000695,NM_001031615 ALDH3B2,ALDH3B2 EXON Missense_W375L,Missense_W375L exm934096 11 67430721 [A/C] NM_000695,NM_001031615 ALDH3B2,ALDH3B2 EXON Missense_W375G,Missense_W375G exm934097 11 67430723 [T/C] NM_000695,NM_001031615 ALDH3B2,ALDH3B2 EXON Missense_R374H,Missense_R374H exm934100 11 67430748 [T/C] NM_000695,NM_001031615 ALDH3B2,ALDH3B2 EXON Missense_T366A,Missense_T366A exm934101 11 67430762 [T/C] NM_000695,NM_001031615 ALDH3B2,ALDH3B2 EXON Missense_H361R,Missense_H361R exm934102 11 67430763 [A/G] NM_000695,NM_001031615 ALDH3B2,ALDH3B2 EXON Missense_H361Y,Missense_H361Y exm934106 11 67430811 [A/G] NM_000695,NM_001031615 ALDH3B2,ALDH3B2 EXON Missense_R345C,Missense_R345C exm934110 11 67431133 [T/C] NM_000695,NM_001031615 ALDH3B2,ALDH3B2 EXON Missense_G325S,Missense_G325S exm934115 11 67431200 [T/G] NM_000695,NM_001031615 ALDH3B2,ALDH3B2 EXON Missense_S302R,Missense_S302R exm934134 11 67432756 [T/C] NM_000695,NM_001031615 ALDH3B2,ALDH3B2 EXON Missense_A236T,Missense_A236T exm934136 11 67432760 [T/G] NM_000695,NM_001031615 ALDH3B2,ALDH3B2 EXON Nonsense_Y234X,Nonsense_Y234X exm934189 11 67433650 [T/C] NM_000695,NM_001031615 ALDH3B2,ALDH3B2 EXON Missense_G88R,Missense_G88R exm934197 11 67433869 [T/C] NM_000695,NM_001031615 ALDH3B2,ALDH3B2 EXON Missense_S52N,Missense_S52N exm934200 11 67434048 [T/C] NM_000695,NM_001031615 ALDH3B2,ALDH3B2 EXON Missense_A50T,Missense_A50T exm934203 11 67434078 [T/G] NM_000695,NM_001031615 ALDH3B2,ALDH3B2 EXON Missense_T40P,Missense_T40P exm934204 11 67434089 [A/G] NM_000695,NM_001031615 ALDH3B2,ALDH3B2 EXON Missense_P36L,Missense_P36L exm934209 11 67434160 [T/C] NM_000695,NM_001031615 ALDH3B2,ALDH3B2 EXON Missense_M12I,Missense_M12I exm934210 11 67434161 [A/G] NM_000695,NM_001031615 ALDH3B2,ALDH3B2 EXON Missense_M12T,Missense_M12T exm934213 11 67434390 [T/C] NM_000695,NM_001031615 ALDH3B2,ALDH3B2 EXON Missense_R6Q,Missense_R6Q exm934255 11 67764091 [A/G] NM_030930 UNC93B1 EXON Missense_P357L exm934273 11 67766704 [A/G] NM_030930 UNC93B1 EXON Missense_P209L exm934281 11 67767052 [A/G] NM_030930 UNC93B1 EXON Missense_S164L exm934290 11 67770499 [T/G] NM_030930 UNC93B1 EXON Missense_L129I exm2271619 11 67772869 [T/C] exm934303 11 67782795 [T/C] NM_001161473,NM_000694,NM_001030010 ALDH3B1,ALDH3B1,ALDH3B1 EXON Nonsense_R10X,Nonsense_R10X,Nonsense_R10X exm934306 11 67782870 [T/C] NM_001161473,NM_000694,NM_001030010 ALDH3B1,ALDH3B1,ALDH3B1 EXON Missense_R35C,Missense_R35C,Missense_R35C exm934311 11 67786006 [A/G] NM_001161473,NM_000694,NM_001030010 ALDH3B1,ALDH3B1,ALDH3B1 EXON Missense_E58K,Missense_E58K,Silent exm934320 11 67786259 [T/C] NM_001161473,NM_000694,NM_001030010 ALDH3B1,ALDH3B1,ALDH3B1 EXON Missense_P97L,Missense_P97L,Synonymous_S60S exm934326 11 67786355 [T/C] NM_001161473,NM_000694,NM_001030010 ALDH3B1,ALDH3B1,ALDH3B1 EXON Missense_S129L,Missense_S129L,Synonymous_L92L exm934331 11 67786706 [A/G] NM_001161473,NM_000694,NM_001030010 ALDH3B1,ALDH3B1,ALDH3B1 EXON Missense_C154Y,Missense_C154Y,Synonymous_L117L exm934332 11 67787208 [A/G] NM_001161473,NM_000694,NM_001030010 ALDH3B1,ALDH3B1,ALDH3B1 EXON Synonymous_A168A,Synonymous_A168A,Missense_G132R exm934339 11 67787247 [A/G] NM_001161473,NM_000694,NM_001030010 ALDH3B1,ALDH3B1,ALDH3B1 EXON Synonymous_S181S,Synonymous_S181S,Missense_D145N exm934365 11 67789275 [A/G] NM_001161473,NM_000694,NM_001030010 ALDH3B1,ALDH3B1,ALDH3B1 EXON Missense_G295R,Missense_G295R,Missense_R258Q exm934373 11 67789327 [A/G] NM_001161473,NM_000694,NM_001030010 ALDH3B1,ALDH3B1,ALDH3B1 EXON Missense_R312Q,Missense_R312Q,Synonymous_A275A exm934388 11 67790188 [A/G] NM_001161473,NM_000694,NM_001030010 ALDH3B1,ALDH3B1,ALDH3B1 EXON Missense_G358E,Missense_G358E,Synonymous_G321G exm934392 11 67793501 [A/G] NM_001161473,NM_000694,NM_001030010 ALDH3B1,ALDH3B1,ALDH3B1 EXON Missense_D380G,Missense_D380G,Synonymous_R343R exm934394 11 67793527 [T/C] NM_001161473,NM_000694,NM_001030010 ALDH3B1,ALDH3B1,ALDH3B1 EXON Nonsense_R389X,Nonsense_R389X,Missense_T352M exm934395 11 67793530 [T/C] NM_001161473,NM_000694,NM_001030010 ALDH3B1,ALDH3B1,ALDH3B1 EXON Missense_R390W,Missense_R390W,Missense_T353M exm934403 11 67795299 [A/G] NM_001161473,NM_000694,NM_001030010 ALDH3B1,ALDH3B1,ALDH3B1 EXON Missense_G433R,Missense_G433R,Missense_R396Q exm934407 11 67795353 [A/G] NM_001161473,NM_000694,NM_001030010 ALDH3B1,ALDH3B1,ALDH3B1 EXON Missense_E451K,Missense_E451K,Synonymous_X414X exm934411 11 67795381 [A/C] NM_001161473,NM_000694,NM_001030010 ALDH3B1,ALDH3B1,ALDH3B1 EXON Missense_Q460P,Missense_Q460P,Synonymous_P423P exm934416 11 67799622 [T/C] NM_002496 NDUFS8 EXON Missense_R2C exm934418 11 67799637 [A/C] NM_002496 NDUFS8 EXON Missense_P7T exm934436 11 67800401 [A/C] NM_002496 NDUFS8 EXON Missense_M41L exm934461 11 67803807 [A/G] NM_002496 NDUFS8 EXON Missense_G154S exm934468 11 67808746 [T/C] NM_006019 TCIRG1 EXON Missense_S3F exm934472 11 67808820 [T/C] NM_006019 TCIRG1 EXON Missense_R28W exm934481 11 67809256 [C/G] NM_006019 TCIRG1 EXON Missense_V52L exm934483 11 67809268 [T/C] NM_006019 TCIRG1 EXON Missense_R56W exm934494 11 67810311 [A/G] NM_006019 TCIRG1 EXON Missense_R133H exm934495 11 67810325 [T/C] NM_006019 TCIRG1 EXON Missense_P138S exm1732512 11 67810471 [A/G] NM_006019,NM_006053 TCIRG1,TCIRG1 EXON Missense_G159E,Silent exm934500 11 67810474 [A/G] NM_006019,NM_006053 TCIRG1,TCIRG1 EXON Missense_G160E,Silent exm934501 11 67810477 [T/C] NM_006019,NM_006053 TCIRG1,TCIRG1 EXON Missense_P161L,Silent exm934529 11 67811642 [A/G] NM_006019,NM_006053 TCIRG1,TCIRG1 EXON Missense_R284Q,Missense_R68Q exm934537 11 67812425 [A/G] NM_006019,NM_006053 TCIRG1,TCIRG1 EXON Missense_M341V,Missense_M125V exm934547 11 67814943 [A/G] NM_006019,NM_006053 TCIRG1,TCIRG1 EXON Missense_M403I,Missense_M187I exm934551 11 67814983 [A/G] NM_006019,NM_006053 TCIRG1,TCIRG1 EXON Missense_A417T,Missense_A201T exm934575 11 67815372 [T/C] NM_006019,NM_006053 TCIRG1,TCIRG1 EXON Missense_T496M,Missense_T280M exm934583 11 67816406 [A/G] NM_006019,NM_006053 TCIRG1,TCIRG1 EXON Missense_V539I,Missense_V323I exm934588 11 67816463 [G/C] NM_006019,NM_006053 TCIRG1,TCIRG1 EXON Missense_V558L,Missense_V342L exm934589 11 67816547 [A/G] NM_006019,NM_006053 TCIRG1,TCIRG1 Silent,Silent exm934590 11 67816589 [T/C] NM_006019,NM_006053 TCIRG1,TCIRG1 EXON Missense_P572L,Missense_P356L exm934595 11 67816675 [A/G] NM_006019,NM_006053 TCIRG1,TCIRG1 EXON Missense_A601T,Missense_A385T exm934602 11 67816757 [A/G] NM_006019,NM_006053 TCIRG1,TCIRG1 EXON Missense_R628Q,Missense_R412Q exm934617 11 67817647 [A/T] NM_006019,NM_006053 TCIRG1,TCIRG1 EXON Missense_I721N,Missense_I505N exm934619 11 67817649 [A/G] NM_006019,NM_006053 TCIRG1,TCIRG1 EXON Missense_E722K,Missense_E506K exm934622 11 67817679 [A/G] NM_006019,NM_006053 TCIRG1,TCIRG1 EXON Missense_A732T,Missense_A516T exm934645 11 67818269 [A/G] NM_006019,NM_006053 TCIRG1,TCIRG1 EXON Missense_A826T,Missense_A610T exm934650 11 67821512 [C/G] NM_212469,NM_001277 CHKA,CHKA EXON Missense_D421E,Missense_D439E exm934656 11 67833279 [A/G] NM_212469,NM_001277 CHKA,CHKA EXON Missense_R349W,Missense_R367W exm934664 11 67833944 [T/G] NM_212469,NM_001277 CHKA,CHKA EXON Missense_K305T,Missense_K323T exm934672 11 67837713 [A/T] NM_212469,NM_001277 CHKA,CHKA EXON Missense_I253N,Missense_I271N exm934683 11 67842185 [A/G] NM_212469,NM_001277 CHKA,CHKA EXON Missense_P192L,Missense_P210L exm934688 11 67848881 [T/G] NM_212469,NM_001277 CHKA,CHKA EXON Silent,Missense_N169T exm934689 11 67848888 [T/C] NM_212469,NM_001277 CHKA,CHKA EXON Silent,Missense_K167E exm2264428 11 67867548 [A/C] NM_212469,NM_001277 CHKA,CHKA Silent,Silent exm934711 11 67925546 [T/C] NM_017635 SUV420H1 EXON Missense_N756S exm934723 11 67925828 [A/G] NM_017635 SUV420H1 EXON Missense_P662L exm934732 11 67925913 [T/C] NM_017635 SUV420H1 EXON Missense_D634N exm934735 11 67926003 [T/C] NM_017635 SUV420H1 EXON Missense_K604E exm934736 11 67926027 [C/G] NM_017635 SUV420H1 EXON Missense_Q596E exm1732696 11 67926093 [T/C] NM_017635 SUV420H1 EXON Missense_D574N exm934747 11 67926218 [A/G] NM_017635 SUV420H1 EXON Missense_S532L exm934749 11 67926233 [A/G] NM_017635 SUV420H1 EXON Missense_S527L exm934750 11 67926251 [A/G] NM_017635 SUV420H1 EXON Missense_P521L exm934753 11 67926294 [T/C] NM_017635 SUV420H1 EXON Missense_G507R exm934758 11 67926349 [A/C] NM_017635 SUV420H1 EXON Missense_L488F exm934763 11 67926515 [T/C] NM_017635 SUV420H1 EXON Missense_N433S exm934793 11 67957408 [T/C] NM_017635,NM_016028 SUV420H1,SUV420H1 EXON Missense_A46T,Missense_A46T exm934796 11 67957518 [T/A] NM_017635,NM_016028 SUV420H1,SUV420H1 EXON Missense_I9N,Missense_I9N exm934817 11 68029285 [T/G] NM_022338 C11orf24 EXON Missense_T393N exm934820 11 68029345 [A/G] NM_022338 C11orf24 EXON Missense_T373M exm934821 11 68029381 [A/G] NM_022338 C11orf24 EXON Missense_T361I exm934828 11 68029463 [T/A] NM_022338 C11orf24 EXON Missense_R334W exm934830 11 68029495 [A/G] NM_022338 C11orf24 EXON Missense_T323M exm1732761 11 68029531 [A/G] NM_022338 C11orf24 EXON Missense_T311I exm934837 11 68029633 [A/G] NM_022338 C11orf24 EXON Missense_P277L exm934841 11 68029720 [C/G] NM_022338 C11orf24 EXON Missense_P248R exm934843 11 68029738 [A/G] NM_022338 C11orf24 EXON Missense_A242V exm934847 11 68029786 [A/G] NM_022338 C11orf24 EXON Missense_P226L exm934856 11 68029937 [A/G] NM_022338 C11orf24 EXON Missense_R176W exm934866 11 68030015 [T/C] NM_022338 C11orf24 EXON Missense_A150T exm934867 11 68030026 [A/G] NM_022338 C11orf24 EXON Missense_A146V exm934872 11 68030104 [A/G] NM_022338 C11orf24 EXON Missense_T120M exm934873 11 68030116 [A/G] NM_022338 C11orf24 EXON Missense_A116V exm934877 11 68030173 [A/C] NM_022338 C11orf24 EXON Missense_G97V exm934880 11 68030272 [A/G] NM_022338 C11orf24 EXON Missense_T64I exm934881 11 68030311 [A/G] NM_022338 C11orf24 EXON Missense_T51M exm934900 11 68115486 [A/G] NM_002335 LRP5 EXON Missense_K88R exm934903 11 68115513 [T/C] NM_002335 LRP5 EXON Missense_A97V exm934921 11 68125162 [T/G] NM_002335 LRP5 EXON Missense_R178L exm934952 11 68153967 [T/C] NM_002335 LRP5 EXON Missense_A400V exm934956 11 68153994 [T/C] NM_002335 LRP5 EXON Missense_T409M exm934980 11 68157432 [A/G] NM_002335 LRP5 EXON Missense_N499S exm1732888 11 68171166 [T/C] NM_002335 LRP5 EXON Synonymous_V600V exm935010 11 68174189 [A/G] NM_002335 LRP5 EXON Missense_V667M exm935025 11 68177472 [T/A] NM_002335 LRP5 EXON Missense_M728L exm935032 11 68177524 [T/C] NM_002335 LRP5 EXON Missense_A745V exm935039 11 68178909 [T/C] NM_002335 LRP5 EXON Missense_I775T exm2250203 11 68181248 [T/G] NM_002335 LRP5 EXON Synonymous_L865L exm935071 11 68181480 [T/C] NM_002335 LRP5 EXON Missense_P943S exm935072 11 68183797 [A/G] NM_002335 LRP5 EXON Synonymous_P943P exm935077 11 68183984 [A/G] NM_002335 LRP5 EXON Missense_D1006N exm935083 11 68191036 [A/G] NM_002335 LRP5 EXON Missense_R1036Q exm-rs599083 11 68192346 [T/G] NM_002335 LRP5 Silent exm935089 11 68192612 [C/G] NM_002335 LRP5 EXON Missense_I1093M exm1732933 11 68192694 [A/G] NM_002335 LRP5 EXON Missense_N1121D exm935100 11 68192736 [T/C] NM_002335 LRP5 EXON Missense_R1135C exm935105 11 68193464 [T/A] NM_002335 LRP5 EXON Missense_L1149Q exm935122 11 68201099 [C/G] NM_002335 LRP5 EXON Missense_A1265P exm935143 11 68201295 [T/C] NM_002335 LRP5 EXON Missense_A1330V exm935150 11 68204372 [A/G] NM_002335 LRP5 EXON Missense_N1339S exm935158 11 68204437 [T/G] NM_002335 LRP5 EXON Missense_C1361G exm935166 11 68205997 [A/G] NM_002335 LRP5 EXON Missense_V1399I exm935173 11 68206058 [A/G] NM_002335 LRP5 EXON Missense_N1419S exm935197 11 68213926 [T/C] NM_002335 LRP5 EXON Missense_P1504L exm935198 11 68213980 [T/C] NM_002335 LRP5 EXON Missense_P1522L exm935199 11 68213989 [T/C] NM_002335 LRP5 EXON Missense_A1525V exm935200 11 68213995 [T/C] NM_002335 LRP5 EXON Missense_P1527L exm935206 11 68216309 [T/C] NM_002335 LRP5 EXON Missense_T1540M exm935208 11 68216312 [C/G] NM_002335 LRP5 EXON Missense_T1541R exm935211 11 68216333 [T/G] NM_002335 LRP5 EXON Missense_C1548F exm935228 11 68312310 [T/C] NM_001164164,NM_001164161,NM_001164163,NM_001164162,NM_001164160,NM_018312 PPP6R3,PPP6R3,PPP6R3,PPP6R3,PPP6R3,PPP6R3 EXON Missense_P78S,Missense_P78S,Missense_P78S,Missense_P78S,Missense_P78S,Missense_P78S exm935234 11 68315556 [A/C] NM_001164164,NM_001164161,NM_001164163,NM_001164162,NM_001164160,NM_018312 PPP6R3,PPP6R3,PPP6R3,PPP6R3,PPP6R3,PPP6R3 EXON Missense_K146Q,Missense_K146Q,Missense_K146Q,Missense_K146Q,Missense_K146Q,Missense_K146Q exm935281 11 68358142 [A/G] NM_001164164,NM_001164161,NM_001164163,NM_001164162,NM_001164160,NM_018312 PPP6R3,PPP6R3,PPP6R3,PPP6R3,PPP6R3,PPP6R3 EXON Missense_R502Q,Missense_R582Q,Missense_R553Q,Missense_R576Q,Missense_R582Q,Missense_R502Q exm935290 11 68367923 [T/C] NM_001164164,NM_001164161,NM_001164163,NM_001164162,NM_001164160,NM_018312 PPP6R3,PPP6R3,PPP6R3,PPP6R3,PPP6R3,PPP6R3 EXON Missense_T638M,Missense_T718M,Missense_T689M,Missense_T712M,Missense_T718M,Missense_T638M exm2219341 11 68367943 [C/G] NM_001164164,NM_001164161,NM_001164163,NM_001164162,NM_001164160,NM_018312 PPP6R3,PPP6R3,PPP6R3,PPP6R3,PPP6R3,PPP6R3 EXON Missense_E645Q,Missense_E725Q,Missense_E696Q,Missense_E719Q,Missense_E725Q,Missense_E645Q exm935301 11 68377410 [A/G] NM_001164164,NM_001164161,NM_001164163,NM_001164162,NM_001164160,NM_018312 PPP6R3,PPP6R3,PPP6R3,PPP6R3,PPP6R3,PPP6R3 EXON Missense_C750Y,Missense_C830Y,Missense_C801Y,Missense_C824Y,Missense_C836Y,Missense_C750Y exm2250206 11 68377459 [A/G] NM_001164164,NM_001164161,NM_001164163,NM_001164162,NM_001164160,NM_018312 PPP6R3,PPP6R3,PPP6R3,PPP6R3,PPP6R3,PPP6R3 EXON Synonymous_A766A,Synonymous_A846A,Synonymous_A817A,Synonymous_A840A,Synonymous_A852A,Synonymous_A766A exm935311 11 68380536 [T/C] NM_001164164,NM_001164161,NM_001164163,NM_001164162,NM_001164160,NM_018312 PPP6R3,PPP6R3,PPP6R3,PPP6R3,PPP6R3,PPP6R3 EXON Silent,Missense_T858I,Missense_T829I,Missense_T852I,Missense_T864I,Missense_T778I exm935314 11 68380578 [T/C] NM_001164164,NM_001164161,NM_001164163,NM_001164162,NM_001164160,NM_018312 PPP6R3,PPP6R3,PPP6R3,PPP6R3,PPP6R3,PPP6R3 EXON Silent,Missense_P872L,Missense_P843L,Missense_P866L,Missense_P878L,Missense_P792L exm935317 11 68382119 [A/C] NM_001164164,NM_001164161,NM_001164163,NM_001164162,NM_001164160,NM_018312 PPP6R3,PPP6R3,PPP6R3,PPP6R3,PPP6R3,PPP6R3 EXON Missense_L784I,Silent,Silent,Silent,Silent,Silent exm935325 11 68452468 [T/C] NM_015973 GAL EXON Missense_S26L exm935331 11 68455511 [A/G] NM_015973 GAL EXON Missense_D56N exm935334 11 68456346 [A/G] NM_015973 GAL EXON Missense_N85D exm935343 11 68458444 [A/G] NM_015973 GAL EXON Missense_E121K exm935344 11 68458447 [T/C] NM_015973 GAL EXON Missense_R122W exm935351 11 68475966 [T/C] NM_004923 MTL5 EXON Missense_R446Q exm935358 11 68478462 [T/C] NM_004923 MTL5 EXON Missense_E405G exm935359 11 68478487 [A/G] NM_004923 MTL5 EXON Missense_C397R exm935365 11 68480857 [A/G] NM_004923 MTL5 EXON Missense_P347S exm935368 11 68483328 [T/A] NM_004923 MTL5 EXON Missense_I333F exm935370 11 68483376 [A/G] NM_004923 MTL5 EXON Missense_C317R exm935377 11 68506246 [C/G] NM_004923,NM_001039656 MTL5,MTL5 EXON Missense_A280G,Missense_A280G exm935378 11 68509835 [A/G] NM_004923,NM_001039656 MTL5,MTL5 EXON Missense_V260A,Missense_V260A exm935380 11 68512543 [A/G] NM_004923,NM_001039656 MTL5,MTL5 EXON Missense_C223R,Missense_C223R exm935382 11 68512579 [A/C] NM_004923,NM_001039656 MTL5,MTL5 EXON Missense_V211L,Missense_V211L exm935394 11 68517996 [T/C] NM_004923,NM_001039656 MTL5,MTL5 EXON Missense_E45K,Missense_E45K exm935404 11 68527037 [T/C] NM_001031847,NM_001876 CPT1A,CPT1A EXON Synonymous_T745T,Synonymous_T745T exm935406 11 68527074 [T/C] NM_001031847,NM_001876 CPT1A,CPT1A EXON Missense_N733S,Missense_N733S exm1733122 11 68529121 [A/G] NM_001031847,NM_001876 CPT1A,CPT1A EXON Missense_S637F,Missense_S637F exm935431 11 68529155 [C/G] NM_001031847,NM_001876 CPT1A,CPT1A EXON Missense_V626L,Missense_V626L exm935432 11 68530096 [A/G] NM_001031847,NM_001876 CPT1A,CPT1A EXON Missense_T625M,Missense_T625M exm935454 11 68542830 [A/G] NM_001031847,NM_001876 CPT1A,CPT1A EXON Missense_P510L,Missense_P510L exm935460 11 68548202 [T/G] NM_001031847,NM_001876 CPT1A,CPT1A EXON Missense_K455T,Missense_K455T exm935491 11 68562288 [T/C] NM_001031847,NM_001876 CPT1A,CPT1A EXON Missense_R288Q,Missense_R288Q exm935492 11 68562298 [T/G] NM_001031847,NM_001876 CPT1A,CPT1A EXON Missense_K285Q,Missense_K285Q exm935493 11 68562300 [T/C] NM_001031847,NM_001876 CPT1A,CPT1A EXON Missense_R284H,Missense_R284H exm935495 11 68562328 [T/C] NM_001031847,NM_001876 CPT1A,CPT1A EXON Missense_A275T,Missense_A275T exm935529 11 68575078 [T/C] NM_001031847,NM_001876 CPT1A,CPT1A EXON Missense_V104M,Missense_V104M exm935530 11 68575086 [A/G] NM_001031847,NM_001876 CPT1A,CPT1A EXON Missense_T101M,Missense_T101M exm935537 11 68580010 [A/G] NM_001031847,NM_001876 CPT1A,CPT1A EXON Missense_P59L,Missense_P59L exm1733197 11 68580026 [A/C] NM_001031847,NM_001876 CPT1A,CPT1A EXON Missense_V54L,Missense_V54L exm935545 11 68658861 [T/C] NM_181515,NM_181514 MRPL21,MRPL21 EXON Missense_V101I,Missense_V186I exm935553 11 68660364 [T/C] NM_181515,NM_181514 MRPL21,MRPL21 EXON Missense_K98E,Missense_K183E exm935554 11 68660393 [T/C] NM_181515,NM_181514 MRPL21,MRPL21 EXON Missense_R88K,Missense_R173K exm935565 11 68664068 [T/C] NM_181515,NM_181514 MRPL21,MRPL21 EXON Missense_R19H,Missense_R104H exm935569 11 68664141 [T/C] NM_181515,NM_181514 MRPL21,MRPL21 EXON Silent,Missense_V80M exm935572 11 68665436 [A/T] NM_181515,NM_181514 MRPL21,MRPL21 EXON Silent,Missense_V64D exm935574 11 68665480 [T/C] NM_181515,NM_181514 MRPL21,MRPL21 EXON Silent,Synonymous_G49G exm935579 11 68668052 [T/C] NM_181515,NM_181514 MRPL21,MRPL21 EXON Silent,Missense_R37Q exm935583 11 68671205 [A/G] NM_181515,NM_181514 MRPL21,MRPL21 EXON Silent,Missense_S25L exm935586 11 68671253 [A/G] NM_181515,NM_181514 MRPL21,MRPL21 EXON Silent,Missense_T9I exm935589 11 68671277 [A/G] NM_181515,NM_181514 MRPL21,MRPL21 EXON Silent,Missense_M1T exm935596 11 68673577 [T/C] NM_002180 IGHMBP2 EXON Nonsense_R43X exm935599 11 68673601 [G/C] NM_002180 IGHMBP2 EXON Missense_Q51E exm935601 11 68673615 [C/G] NM_002180 IGHMBP2 EXON Missense_Q55H exm935606 11 68673673 [A/G] NM_002180 IGHMBP2 EXON Missense_A75T exm935613 11 68675660 [T/G] NM_002180 IGHMBP2 EXON Missense_A102S exm1733262 11 68675700 [T/C] NM_002180 IGHMBP2 EXON Missense_T115M exm935619 11 68675718 [T/C] NM_002180 IGHMBP2 EXON Missense_S121F exm935624 11 68675796 [A/G] NM_002180 IGHMBP2 EXON Missense_R147Q exm935629 11 68678962 [T/C] NM_002180 IGHMBP2 EXON Missense_L201S exm935640 11 68682346 [G/C] NM_002180 IGHMBP2 EXON Missense_A256G exm935642 11 68682369 [T/C] NM_002180 IGHMBP2 EXON Missense_R264C exm1733284 11 68682409 [A/G] NM_002180 IGHMBP2 EXON Missense_Q277R exm935645 11 68682411 [G/C] NM_002180 IGHMBP2 EXON Missense_H278D exm935653 11 68685216 [A/G] NM_002180 IGHMBP2 EXON Missense_K309E exm935657 11 68685306 [T/C] NM_002180 IGHMBP2 EXON Missense_L339F exm935661 11 68696654 [T/C] NM_002180 IGHMBP2 EXON Missense_A355V exm935664 11 68696698 [A/G] NM_002180 IGHMBP2 EXON Missense_D370N exm935667 11 68696783 [T/C] NM_002180 IGHMBP2 EXON Missense_A398V exm935672 11 68700825 [A/G] NM_002180 IGHMBP2 EXON Missense_A432T exm935674 11 68700837 [T/C] NM_002180 IGHMBP2 EXON Missense_R436W exm935682 11 68701266 [A/C] NM_002180 IGHMBP2 EXON Missense_D474E exm2276935 11 68701332 [A/C] NM_002180 IGHMBP2 EXON Nonsense_C496X exm935696 11 68701997 [A/G] NM_002180 IGHMBP2 EXON Missense_I535V exm935700 11 68702803 [G/C] NM_002180 IGHMBP2 EXON Missense_P557A exm935704 11 68703732 [A/G] NM_002180 IGHMBP2 EXON Missense_R595Q exm935714 11 68703887 [A/G] NM_002180 IGHMBP2 EXON Missense_V647I exm935716 11 68703959 [A/G] NM_002180 IGHMBP2 EXON Missense_T671A exm935718 11 68703974 [A/G] NM_002180 IGHMBP2 EXON Missense_G676R exm935719 11 68704028 [T/C] NM_002180 IGHMBP2 EXON Missense_R694W exm935722 11 68704088 [A/G] NM_002180 IGHMBP2 EXON Missense_G714R exm935724 11 68704124 [A/G] NM_002180 IGHMBP2 EXON Missense_V726M exm935728 11 68704208 [A/G] NM_002180 IGHMBP2 EXON Missense_D754N exm935735 11 68704308 [T/C] NM_002180 IGHMBP2 EXON Missense_P787L exm935736 11 68704310 [T/C] NM_002180 IGHMBP2 EXON Nonsense_R788X exm935738 11 68704317 [A/G] NM_002180 IGHMBP2 EXON Missense_R790Q exm1733341 11 68704415 [T/C] NM_002180 IGHMBP2 EXON Missense_R823C exm935749 11 68704493 [A/G] NM_002180 IGHMBP2 EXON Missense_A849T exm935754 11 68705656 [T/C] NM_002180 IGHMBP2 EXON Missense_P873L exm935755 11 68705674 [A/C] NM_002180 IGHMBP2 EXON Missense_T879K exm935767 11 68705790 [T/C] NM_002180 IGHMBP2 EXON Missense_R918C exm935775 11 68707054 [A/G] NM_002180 IGHMBP2 EXON Missense_R946Q exm935778 11 68707089 [A/G] NM_002180 IGHMBP2 EXON Missense_N958D exm935782 11 68707139 [T/G] NM_002180 IGHMBP2 EXON Missense_D974E exm935789 11 68747507 [T/G] NM_198923 MRGPRD EXON Missense_N317H exm935800 11 68747593 [T/G] NM_198923 MRGPRD EXON Missense_P288H exm935809 11 68747840 [A/G] NM_198923 MRGPRD EXON Missense_R206W exm1733358 11 68747881 [A/G] NM_198923 MRGPRD EXON Missense_P192L exm935815 11 68747936 [A/G] NM_198923 MRGPRD EXON Missense_R174W exm935833 11 68748259 [A/T] NM_198923 MRGPRD EXON Missense_L66H exm1733362 11 68748268 [A/G] NM_198923 MRGPRD EXON Missense_I63T exm935834 11 68748292 [T/C] NM_198923 MRGPRD EXON Missense_R55Q exm935835 11 68748293 [A/G] NM_198923 MRGPRD EXON Nonsense_R55X exm935837 11 68748335 [T/C] NM_198923 MRGPRD EXON Missense_G41R exm935841 11 68748380 [T/C] NM_198923 MRGPRD EXON Missense_A26T exm1733364 11 68748425 [T/C] NM_198923 MRGPRD EXON Missense_V11M exm1733370 11 68772955 [T/C] NM_145015,NM_001098515 MRGPRF,MRGPRF EXON Missense_V275I,Missense_V275I exm935867 11 68772975 [A/G] NM_145015,NM_001098515 MRGPRF,MRGPRF EXON Missense_P268L,Missense_P268L exm935872 11 68773089 [T/C] NM_145015,NM_001098515 MRGPRF,MRGPRF EXON Missense_R230Q,Missense_R230Q exm2219346 11 68773173 [T/C] NM_145015,NM_001098515 MRGPRF,MRGPRF EXON Missense_G202D,Missense_G202D exm935887 11 68773390 [T/C] NM_145015,NM_001098515 MRGPRF,MRGPRF EXON Missense_G130S,Missense_G130S exm935900 11 68773555 [T/C] NM_145015,NM_001098515 MRGPRF,MRGPRF EXON Missense_R75G,Missense_R75G exm935911 11 68777323 [T/C] NM_145015,NM_001098515 MRGPRF,MRGPRF EXON Missense_K16R,Missense_K16R exm2271620 11 68815523 [T/C] exm935923 11 68821507 [T/C] NM_139075 TPCN2 EXON Missense_A39V exm935933 11 68822241 [A/G] NM_139075 TPCN2 EXON Missense_R76Q exm935935 11 68822255 [A/G] NM_139075 TPCN2 EXON Missense_V81I exm935937 11 68822264 [T/C] NM_139075 TPCN2 EXON Missense_R84W exm935949 11 68822750 [T/C] NM_139075 TPCN2 EXON Missense_P120L exm935956 11 68825103 [A/G] NM_139075 TPCN2 EXON Missense_V163M exm935967 11 68831364 [A/G] NM_139075 TPCN2 EXON Missense_V219I exm935978 11 68835023 [A/G] NM_139075 TPCN2 EXON Missense_E260G exm935981 11 68835058 [A/G] NM_139075 TPCN2 EXON Missense_A272T exm935982 11 68835070 [A/G] NM_139075 TPCN2 EXON Missense_D276N exm935992 11 68838878 [T/G] NM_139075 TPCN2 EXON Missense_G317V exm936004 11 68840160 [A/G] NM_139075 TPCN2 EXON Missense_K376R exm936011 11 68840399 [A/G] NM_139075 TPCN2 EXON Missense_G387D exm936021 11 68846017 [A/G] NM_139075 TPCN2 EXON Missense_Y433C exm936023 11 68846024 [G/C] NM_139075 TPCN2 EXON Missense_D435E exm936031 11 68846399 [T/A] NM_139075 TPCN2 EXON Missense_M484L exm936043 11 68848916 [A/G] NM_139075 TPCN2 EXON Missense_M546I exm936045 11 68848939 [A/G] NM_139075 TPCN2 EXON Missense_R554H exm936046 11 68851414 [T/C] NM_139075 TPCN2 EXON Missense_L564P exm936050 11 68851470 [A/G] NM_139075 TPCN2 EXON Missense_G583S exm936059 11 68853153 [A/G] NM_139075 TPCN2 EXON Missense_N618S exm936063 11 68853197 [A/G] NM_139075 TPCN2 EXON Missense_A633T exm936064 11 68853220 [T/G] NM_139075 TPCN2 EXON Synonymous_A640A exm936070 11 68853389 [A/G] NM_139075 TPCN2 EXON Missense_Y665C exm936078 11 68854029 [T/C] NM_139075 TPCN2 EXON Missense_S681L exm936080 11 68854047 [A/G] NM_139075 TPCN2 EXON Missense_N687S exm936091 11 68855363 [A/G] NM_139075 TPCN2 EXON Missense_G734E exm-rs11228565 11 68978580 [A/G] exm-rs10896449 11 68994667 [A/G] exm-rs7130881 11 68995958 [A/G] exm936096 11 69062880 [A/G] NM_138768 MYEOV EXON Missense_R20H exm1733528 11 69063099 [T/C] NM_138768 MYEOV EXON Missense_T61I exm936103 11 69063153 [A/G] NM_138768 MYEOV EXON Missense_R79H exm936104 11 69063177 [A/G] NM_138768 MYEOV EXON Missense_R87H exm936105 11 69063183 [T/C] NM_138768 MYEOV EXON Missense_A89V exm936111 11 69063393 [T/C] NM_138768 MYEOV EXON Missense_V159A exm1733534 11 69063434 [A/G] NM_138768 MYEOV EXON Missense_V173I exm936116 11 69063476 [T/C] NM_138768 MYEOV EXON Missense_R187W exm936117 11 69063477 [A/G] NM_138768 MYEOV EXON Missense_R187Q exm936120 11 69063510 [A/G] NM_138768 MYEOV EXON Missense_R198Q exm1733537 11 69063539 [T/C] NM_138768 MYEOV EXON Nonsense_R208X exm936127 11 69063572 [A/G] NM_138768 MYEOV EXON Missense_M219V exm936129 11 69063588 [T/C] NM_138768 MYEOV EXON Missense_S224L exm936130 11 69063638 [T/C] NM_138768 MYEOV EXON Missense_R241W exm1733538 11 69063639 [T/G] NM_138768 MYEOV EXON Missense_R241L exm936133 11 69063726 [T/G] NM_138768 MYEOV EXON Missense_G270V exm936134 11 69063728 [G/C] NM_138768 MYEOV EXON Missense_G271R exm936140 11 69063767 [A/C] NM_138768 MYEOV EXON Missense_P284T exm936144 11 69063836 [A/C] NM_138768 MYEOV EXON Missense_L307I exm-rs7105934 11 69239741 [A/G] exm-rs614367 11 69328764 [T/C] exm2267189 11 69334307 [A/G] exm2271621 11 69419268 [T/C] exm936151 11 69456169 [A/G] NM_053056 CCND1 EXON Missense_A30T exm936168 11 69462910 [A/G] NM_053056 CCND1 EXON Synonymous_P241P exm936184 11 69486584 [T/C] NM_153451 ORAOV1 EXON Missense_G54R exm936191 11 69488039 [A/C] NM_153451 ORAOV1 EXON Missense_G34V exm936196 11 69490001 [T/C] NM_153451 ORAOV1 EXON Missense_G3S exm936199 11 69514056 [T/C] NM_005117 FGF19 EXON Missense_V209M exm936204 11 69514131 [T/C] NM_005117 FGF19 EXON Missense_E184K exm936205 11 69514140 [T/C] NM_005117 FGF19 EXON Missense_G181S exm936210 11 69514241 [G/C] NM_005117 FGF19 EXON Missense_S147T exm936212 11 69514277 [T/C] NM_005117 FGF19 EXON Missense_R135Q exm936235 11 69588175 [A/G] NM_002007 FGF4 EXON Missense_P175S exm936237 11 69588217 [A/G] NM_002007 FGF4 EXON Missense_L161F exm936238 11 69588218 [A/C] NM_002007 FGF4 EXON Missense_I160M exm936269 11 69625281 [T/C] NM_005247 FGF3 EXON Missense_R171H exm936291 11 69631109 [G/C] NM_005247 FGF3 EXON Missense_K101N exm936315 11 69924755 [T/C] NM_018043 ANO1 EXON Missense_R15C exm936319 11 69933891 [A/G] NM_018043,NR_030691 ANO1,ANO1 EXON Missense_E48K,Silent exm936321 11 69933924 [T/C] NM_018043,NR_030691 ANO1,ANO1 EXON Missense_R59W,Silent exm936341 11 69949220 [A/G] NM_018043,NR_030691 ANO1,ANO1 EXON Missense_V164M,Silent exm936344 11 69950126 [T/C] NM_018043,NR_030691 ANO1,ANO1 EXON Missense_R188C,Silent exm936353 11 69951871 [A/G] NM_018043,NR_030691 ANO1,ANO1 EXON Missense_D242N,Silent exm936388 11 69995833 [A/C] NM_018043,NR_030691 ANO1,ANO1 EXON Missense_H426N,Silent exm2250223 11 70002987 [A/G] NM_018043,NR_030691 ANO1,ANO1 Silent,Silent exm936417 11 70007354 [A/G] NM_018043,NR_030691 ANO1,ANO1 EXON Missense_V556M,Silent exm936419 11 70007366 [A/G] NM_018043,NR_030691 ANO1,ANO1 EXON Missense_I560V,Silent exm936423 11 70007445 [T/C] NM_018043,NR_030691 ANO1,ANO1 EXON Missense_I586T,Silent exm936425 11 70007467 [T/C] NM_018043,NR_030691 ANO1,ANO1 EXON Synonymous_I593I,Silent exm936430 11 70007770 [T/C] NM_018043,NR_030691 ANO1,ANO1 EXON Missense_F608S,Silent exm936482 11 70013413 [A/G] NM_018043,NR_030691 ANO1,ANO1 EXON Missense_C706Y,Silent exm936485 11 70013464 [T/C] NM_018043,NR_030691 ANO1,ANO1 EXON Missense_A723V,Silent exm936519 11 70033902 [T/A] NM_018043,NR_030691 ANO1,ANO1 EXON Missense_D918V,Silent exm936524 11 70033945 [C/G] NM_018043,NR_030691 ANO1,ANO1 EXON Missense_E932D,Silent exm1734118 11 70033955 [A/C] NM_018043,NR_030691 ANO1,ANO1 EXON Synonymous_R936R,Silent exm936531 11 70034096 [A/G] NM_018043,NR_030691 ANO1,ANO1 EXON Missense_G983R,Silent exm936532 11 70034102 [A/G] NM_018043,NR_030691 ANO1,ANO1 EXON Missense_V985I,Silent exm936559 11 70052568 [A/G] NM_003824 FADD EXON Missense_E206K exm936560 11 70052572 [T/C] NM_003824 FADD EXON Missense_A207V exm936566 11 70118365 [T/G] NM_177423,NR_045286,NM_003626 PPFIA1,PPFIA1,PPFIA1 EXON Missense_Q29H,Silent,Missense_Q29H exm2274510 11 70118372 [A/G] NM_177423,NR_045286,NM_003626 PPFIA1,PPFIA1,PPFIA1 EXON Missense_A32T,Silent,Missense_A32T exm936573 11 70118489 [A/G] NM_177423,NR_045286,NM_003626 PPFIA1,PPFIA1,PPFIA1 EXON Missense_V71I,Silent,Missense_V71I exm936578 11 70170536 [A/G] NM_177423,NR_045286,NM_003626 PPFIA1,PPFIA1,PPFIA1 EXON Missense_N98S,Silent,Missense_N98S exm936584 11 70171037 [T/C] NM_177423,NR_045286,NM_003626 PPFIA1,PPFIA1,PPFIA1 EXON Missense_P151S,Silent,Missense_P151S exm936604 11 70172914 [T/A] NM_177423,NR_045286,NM_003626 PPFIA1,PPFIA1,PPFIA1 EXON Missense_D307V,Silent,Missense_D307V exm936616 11 70178073 [A/G] NM_177423,NR_045286,NM_003626 PPFIA1,PPFIA1,PPFIA1 EXON Missense_D362G,Silent,Missense_D362G exm936636 11 70184511 [A/G] NM_177423,NR_045286,NM_003626 PPFIA1,PPFIA1,PPFIA1 EXON Missense_R508K,Silent,Missense_R508K exm936642 11 70185377 [C/G] NM_177423,NR_045286,NM_003626 PPFIA1,PPFIA1,PPFIA1 EXON Missense_G558R,Silent,Missense_G558R exm936648 11 70189789 [T/G] NM_177423,NR_045286,NM_003626 PPFIA1,PPFIA1,PPFIA1 EXON Missense_N574K,Silent,Missense_N574K exm936654 11 70189892 [A/G] NM_177423,NR_045286,NM_003626 PPFIA1,PPFIA1,PPFIA1 EXON Missense_T609A,Silent,Missense_T609A exm936672 11 70194395 [A/G] NM_177423,NR_045286,NM_003626 PPFIA1,PPFIA1,PPFIA1 EXON Missense_M678V,Silent,Missense_M678V exm936677 11 70194459 [A/G] NM_177423,NR_045286,NM_003626 PPFIA1,PPFIA1,PPFIA1 EXON Missense_R699H,Silent,Missense_R699H exm936679 11 70194467 [T/C] NM_177423,NR_045286,NM_003626 PPFIA1,PPFIA1,PPFIA1 EXON Missense_P702S,Silent,Missense_P702S exm2276193 11 70200492 [A/G] NM_177423,NR_045286,NM_003626 PPFIA1,PPFIA1,PPFIA1 EXON Missense_R750Q,Silent,Missense_R750Q exm1734169 11 70200492 [T/G] NM_177423,NR_045286,NM_003626 PPFIA1,PPFIA1,PPFIA1 EXON Missense_R750L,Silent,Missense_R750L exm1734170 11 70200500 [T/C] NM_177423,NR_045286,NM_003626 PPFIA1,PPFIA1,PPFIA1 EXON Missense_R753W,Silent,Missense_R753W exm936697 11 70202278 [A/G] NM_177423,NR_045286,NM_003626 PPFIA1,PPFIA1,PPFIA1 EXON Missense_E834K,Silent,Missense_E834K exm936710 11 70208464 [T/C] NM_177423,NR_045286,NM_003626 PPFIA1,PPFIA1,PPFIA1 EXON Missense_S912L,Silent,Missense_S912L exm936719 11 70208593 [T/C] NM_177423,NR_045286,NM_003626 PPFIA1,PPFIA1,PPFIA1 EXON Missense_T955M,Silent,Missense_T955M exm936721 11 70218322 [T/C] NM_177423,NR_045286,NM_003626 PPFIA1,PPFIA1,PPFIA1 EXON Missense_T956I,Silent,Missense_T956I exm936737 11 70221092 [A/G] NM_177423,NR_045286,NM_003626 PPFIA1,PPFIA1,PPFIA1 EXON Missense_N1070D,Silent,Missense_N1070D exm1734207 11 70224200 [A/G] NM_177423,NR_045286,NM_003626 PPFIA1,PPFIA1,PPFIA1 EXON Missense_R1150H,Silent,Missense_R1150H exm936755 11 70224300 [T/C] NM_177423,NR_045286,NM_003626 PPFIA1,PPFIA1,PPFIA1 EXON Synonymous_D1183D,Silent,Synonymous_D1183D exm936781 11 70260735 [A/G] NM_005231,NM_001184740,NM_138565 CTTN,CTTN,CTTN EXON Missense_V127I,Missense_V127I,Missense_V127I exm936787 11 70263125 [C/G] NM_005231,NM_001184740,NM_138565 CTTN,CTTN,CTTN EXON Missense_S155C,Missense_S155C,Missense_S155C exm936792 11 70263198 [C/G] NM_005231,NM_001184740,NM_138565 CTTN,CTTN,CTTN EXON Missense_Q179H,Missense_Q179H,Missense_Q179H exm936808 11 70267615 [T/C] NM_005231,NM_001184740,NM_138565 CTTN,CTTN,CTTN EXON Missense_S277L,Silent,Silent exm936823 11 70271499 [T/G] NM_005231,NM_001184740,NM_138565 CTTN,CTTN,CTTN EXON Missense_V340G,Missense_V303G,Missense_V303G exm936830 11 70275301 [A/T] NM_005231,NM_001184740,NM_138565 CTTN,CTTN,CTTN EXON Missense_L391Q,Missense_L354Q,Missense_L354Q exm936833 11 70277319 [A/G] NM_005231,NM_001184740,NM_138565 CTTN,CTTN,CTTN EXON Missense_Q400R,Missense_Q363R,Missense_Q363R exm936836 11 70277334 [T/C] NM_005231,NM_001184740,NM_138565 CTTN,CTTN,CTTN EXON Missense_S405L,Missense_S368L,Missense_S368L exm1734250 11 70279208 [A/G] NM_005231,NM_001184740,NM_138565 CTTN,CTTN,CTTN EXON Missense_D423G,Missense_D386G,Missense_D386G exm2274511 11 70279314 [C/G] NM_005231,NM_001184740,NM_138565 CTTN,CTTN,CTTN EXON Missense_S458R,Missense_S421R,Missense_S421R exm2250225 11 70279356 [T/C] NM_005231,NM_001184740,NM_138565 CTTN,CTTN,CTTN EXON Synonymous_S472S,Synonymous_S435S,Synonymous_S435S exm936856 11 70279364 [A/C] NM_005231,NM_001184740,NM_138565 CTTN,CTTN,CTTN EXON Missense_A475D,Missense_A438D,Missense_A438D exm936858 11 70279759 [A/G] NM_005231,NM_001184740,NM_138565 CTTN,CTTN,CTTN EXON Missense_S484N,Missense_S447N,Missense_S447N exm936860 11 70279767 [A/G] NM_005231,NM_001184740,NM_138565 CTTN,CTTN,CTTN EXON Missense_D487N,Missense_D450N,Missense_D450N exm936864 11 70279782 [A/G] NM_005231,NM_001184740,NM_138565 CTTN,CTTN,CTTN EXON Missense_D492N,Missense_D455N,Missense_D455N exm936887 11 70281831 [A/G] NM_005231,NM_001184740,NM_138565 CTTN,CTTN,CTTN EXON Silent,Missense_V587M,Silent exm936891 11 70282413 [T/C] NM_005231,NM_001184740,NM_138565 CTTN,CTTN,CTTN EXON Silent,Missense_R602W,Silent exm936898 11 70319049 [A/G] NM_012309,NM_133266 SHANK2,SHANK2 EXON Missense_H1762Y,Synonymous_L1237L exm936899 11 70319088 [A/G] NM_012309,NM_133266 SHANK2,SHANK2 EXON Nonsense_R1749X,Synonymous_I1224I exm936906 11 70319250 [T/C] NM_012309,NM_133266 SHANK2,SHANK2 EXON Missense_G1695R,Synonymous_A1170A exm936916 11 70319373 [T/C] NM_012309,NM_133266 SHANK2,SHANK2 EXON Missense_E1654K,Missense_M1129I exm936921 11 70319499 [T/C] NM_012309,NM_133266 SHANK2,SHANK2 EXON Missense_G1612S,Synonymous_T1087T exm936923 11 70319503 [A/G] NM_012309,NM_133266 SHANK2,SHANK2 EXON Synonymous_H1610H,Missense_T1086M exm936925 11 70319533 [A/G] NM_012309,NM_133266 SHANK2,SHANK2 EXON Synonymous_D1600D,Missense_I1076T exm936926 11 70319538 [T/C] NM_012309,NM_133266 SHANK2,SHANK2 EXON Missense_G1599R,Synonymous_P1074P exm936929 11 70331472 [T/C] NM_012309,NM_133266 SHANK2,SHANK2 EXON Missense_G1579R,Synonymous_P1054P exm936942 11 70331861 [T/C] NM_012309,NM_133266 SHANK2,SHANK2 EXON Missense_R1449H,Missense_V925M exm936945 11 70331925 [A/G] NM_012309,NM_133266 SHANK2,SHANK2 EXON Nonsense_R1428X,Synonymous_I903I exm936946 11 70331937 [A/G] NM_012309,NM_133266 SHANK2,SHANK2 EXON Nonsense_R1424X,Synonymous_A899A exm936947 11 70331945 [T/C] NM_012309,NM_133266 SHANK2,SHANK2 EXON Missense_R1421H,Missense_A897T exm936953 11 70332091 [T/C] NM_012309,NM_133266 SHANK2,SHANK2 EXON Synonymous_R1372R,Missense_D848G exm936955 11 70332111 [A/G] NM_012309,NM_133266 SHANK2,SHANK2 EXON Missense_F1366L,Synonymous_A841A exm936957 11 70332126 [A/G] NM_012309,NM_133266 SHANK2,SHANK2 EXON Nonsense_R1361X,Synonymous_P836P exm936959 11 70332167 [A/G] NM_012309,NM_133266 SHANK2,SHANK2 EXON Missense_I1347T,Synonymous_L823L exm936962 11 70332267 [T/C] NM_012309,NM_133266 SHANK2,SHANK2 EXON Missense_G1314S,Synonymous_A789A exm936963 11 70332270 [G/C] NM_012309,NM_133266 SHANK2,SHANK2 EXON Missense_R1313G,Synonymous_V788V exm936964 11 70332285 [A/G] NM_012309,NM_133266 SHANK2,SHANK2 EXON Missense_R1308W,Synonymous_P783P exm936971 11 70332450 [T/C] NM_012309,NM_133266 SHANK2,SHANK2 EXON Missense_A1253T,Synonymous_V728V exm936987 11 70332754 [A/G] NM_012309,NM_133266 SHANK2,SHANK2 EXON Synonymous_P1151P,Missense_P627L exm936993 11 70332890 [T/C] NM_012309,NM_133266 SHANK2,SHANK2 EXON Nonsense_W1106X,Missense_G582R exm937006 11 70333099 [A/G] NM_012309,NM_133266 SHANK2,SHANK2 EXON Synonymous_P1036P,Missense_P512L exm937021 11 70333498 [T/C] NM_012309,NM_133266 SHANK2,SHANK2 EXON Synonymous_L903L,Missense_Y379C exm937022 11 70333521 [A/G] NM_012309,NM_133266 SHANK2,SHANK2 EXON Missense_L896F,Synonymous_Y371Y exm937027 11 70333590 [A/G] NM_012309,NM_133266 SHANK2,SHANK2 EXON Nonsense_Q873X,Synonymous_T348T exm937028 11 70333595 [T/C] NM_012309,NM_133266 SHANK2,SHANK2 EXON Missense_R871H,Missense_A347T exm937029 11 70333596 [A/G] NM_012309,NM_133266 SHANK2,SHANK2 EXON Missense_R871C,Synonymous_P346P exm937042 11 70336479 [T/C] NM_012309,NM_133266 SHANK2,SHANK2 EXON Synonymous_T754T,Missense_R230H exm937043 11 70336484 [A/G] NM_012309,NM_133266 SHANK2,SHANK2 EXON Nonsense_R753X,Synonymous_Y228Y exm937046 11 70338455 [T/C] NM_012309,NM_133266 SHANK2,SHANK2 EXON Missense_G745R,Synonymous_A220A exm937054 11 70346686 [T/C] NM_012309,NM_133266 SHANK2,SHANK2 EXON Synonymous_P702P,Missense_R178Q exm937065 11 70348919 [T/C] NM_012309,NM_133266 SHANK2,SHANK2 EXON Missense_R663Q,Missense_D139N exm2259851 11 70374786 [A/G] NM_012309,NM_133266 SHANK2,SHANK2 Silent,Silent exm937089 11 70507838 [A/G] NM_012309,NM_133266 SHANK2,SHANK2 EXON Silent,Missense_A12V exm2271518 11 70523993 [T/C] NM_012309 SHANK2 Silent exm937097 11 70544864 [G/C] NM_012309 SHANK2 EXON Missense_P531A exm937101 11 70644566 [A/G] NM_012309 SHANK2 EXON Missense_A523V exm937126 11 70666765 [T/C] NM_012309 SHANK2 EXON Missense_V336I exm2259852 11 70731148 [A/G] NM_012309 SHANK2 Silent exm937153 11 70821059 [A/G] NM_012309 SHANK2 EXON Missense_R174C exm2219370 11 70824343 [A/G] NM_012309 SHANK2 EXON Missense_T160M exm937164 11 70829969 [A/G] NM_012309 SHANK2 EXON Missense_P106L exm937165 11 70830059 [A/G] NM_012309 SHANK2 EXON Missense_P76L exm937166 11 70858182 [T/C] NM_012309 SHANK2 EXON Missense_H64R exm937168 11 70858237 [T/C] NM_012309 SHANK2 EXON Missense_G46S exm937175 11 70858368 [A/G] NM_012309 SHANK2 EXON Missense_P2L exm1734487 11 71146443 [T/C] NM_001360,NM_001163817 DHCR7,DHCR7 EXON Missense_R469H,Missense_R469H exm1734492 11 71146645 [T/C] NM_001360,NM_001163817 DHCR7,DHCR7 EXON Missense_V402M,Missense_V402M exm937199 11 71146831 [T/C] NM_001360,NM_001163817 DHCR7,DHCR7 EXON Missense_V340I,Missense_V340I exm937200 11 71146837 [T/C] NM_001360,NM_001163817 DHCR7,DHCR7 EXON Missense_V338M,Missense_V338M exm937212 11 71148914 [T/C] NM_001360,NM_001163817 DHCR7,DHCR7 EXON Missense_G303R,Missense_G303R exm937221 11 71150032 [A/G] NM_001360,NM_001163817 DHCR7,DHCR7 EXON Missense_R242C,Missense_R242C exm937223 11 71150037 [T/C] NM_001360,NM_001163817 DHCR7,DHCR7 EXON Missense_N240S,Missense_N240S exm937227 11 71152313 [T/C] NM_001360,NM_001163817 DHCR7,DHCR7 EXON Missense_M196V,Missense_M196V exm937243 11 71152438 [G/C] NM_001360,NM_001163817 DHCR7,DHCR7 EXON Missense_T154R,Missense_T154R exm937244 11 71152447 [T/C] NM_001360,NM_001163817 DHCR7,DHCR7 EXON Nonsense_W151X,Nonsense_W151X exm1734510 11 71153321 [A/C] NM_001360,NM_001163817 DHCR7,DHCR7 EXON Missense_V134L,Missense_V134L exm937254 11 71155071 [T/C] NM_001360,NM_001163817 DHCR7,DHCR7 EXON Missense_A97T,Missense_A97T exm937256 11 71155082 [A/G] NM_001360,NM_001163817 DHCR7,DHCR7 EXON Missense_T93M,Missense_T93M exm937261 11 71155152 [T/C] NM_001360,NM_001163817 DHCR7,DHCR7 EXON Missense_G70S,Missense_G70S exm937263 11 71155161 [T/C] NM_001360,NM_001163817 DHCR7,DHCR7 EXON Missense_A67T,Missense_A67T exm937269 11 71155229 [A/G] NM_001360,NM_001163817 DHCR7,DHCR7 EXON Missense_I44T,Missense_I44T exm937270 11 71155233 [T/C] NM_001360,NM_001163817 DHCR7,DHCR7 EXON Missense_V43I,Missense_V43I exm937276 11 71155929 [A/C] NM_001360,NM_001163817 DHCR7,DHCR7 EXON Missense_A24S,Missense_A24S exm937280 11 71155974 [A/T] NM_001360,NM_001163817 DHCR7,DHCR7 EXON Missense_I9F,Missense_I9F exm937288 11 71164364 [A/G] NM_018161 NADSYN1 EXON Missense_A8T exm-rs12785878 11 71167449 [T/G] NM_018161 NADSYN1 Silent exm937294 11 71169474 [T/C] NM_018161 NADSYN1 EXON Synonymous_C49C exm937295 11 71169475 [A/G] NM_018161 NADSYN1 EXON Missense_G50S exm937302 11 71169547 [C/G] NM_018161 NADSYN1 EXON Missense_V74L exm937303 11 71169557 [T/C] NM_018161 NADSYN1 EXON Missense_P77L exm937310 11 71169583 [A/G] NM_018161 NADSYN1 EXON Missense_V86M exm937324 11 71175160 [T/C] NM_018161 NADSYN1 EXON Missense_R127C exm937325 11 71175161 [A/G] NM_018161 NADSYN1 EXON Missense_R127H exm2250232 11 71175174 [A/G] NM_018161 NADSYN1 EXON Synonymous_P131P exm937343 11 71184617 [T/C] NM_018161 NADSYN1 EXON Missense_P184L exm937345 11 71184643 [A/G] NM_018161 NADSYN1 EXON Missense_V193M exm937349 11 71184678 [A/C] NM_018161 NADSYN1 EXON Missense_Q204H exm937350 11 71184679 [A/G] NM_018161 NADSYN1 EXON Missense_V205M exm937360 11 71185490 [A/G] NM_018161 NADSYN1 EXON Missense_R239H exm937369 11 71189477 [T/C] NM_018161 NADSYN1 EXON Missense_R279W exm937372 11 71189515 [A/G] NM_018161 NADSYN1 EXON Synonymous_A291A exm937375 11 71191817 [T/C] NM_018161 NADSYN1 EXON Missense_P297L exm937380 11 71191891 [A/G] NM_018161 NADSYN1 EXON Missense_E322K exm937388 11 71192427 [A/G] NM_018161 NADSYN1 EXON Missense_D342N exm937398 11 71193059 [A/G] NM_018161 NADSYN1 EXON Missense_V380M exm937399 11 71193062 [A/T] NM_018161 NADSYN1 EXON Missense_R381W exm937404 11 71193921 [A/G] NM_018161 NADSYN1 EXON Missense_T393A exm937409 11 71193951 [A/C] NM_018161 NADSYN1 EXON Missense_Q403K exm937411 11 71193985 [C/G] NM_018161 NADSYN1 EXON Missense_T414S exm937416 11 71194032 [T/C] NM_018161 NADSYN1 EXON Missense_R430W exm-rs3829251 11 71194559 [A/G] NM_018161 NADSYN1 Silent exm937438 11 71201979 [A/G] NM_018161 NADSYN1 EXON Missense_V551I exm937440 11 71202012 [T/G] NM_018161 NADSYN1 EXON Missense_A562S exm937442 11 71202021 [A/C] NM_018161 NADSYN1 EXON Missense_S565R exm937447 11 71202902 [A/G] NM_018161 NADSYN1 EXON Missense_A573T exm937453 11 71208537 [A/G] NM_018161 NADSYN1 EXON Missense_M591I exm937458 11 71208625 [A/G] NM_018161 NADSYN1 EXON Missense_G621S exm937467 11 71209470 [A/G] NM_018161 NADSYN1 EXON Missense_A656T exm937484 11 71212387 [A/G] NM_018161 NADSYN1 EXON Missense_G704S exm937563 11 71249650 [A/C] NM_021046 KRTAP5-8 EXON Nonsense_C183X exm937590 11 71260033 [A/C] NM_005553 KRTAP5-9 EXON Missense_S110R exm937756 11 71507133 [T/G] NM_001099653,NM_018172,NM_152563,NR_073386,NR_073388 FAM86C1,FAM86C1,FAM86C1,ALG1L9P,ALG1L9P EXON Missense_S104I,Missense_S111I,Missense_S77I,Silent,Silent exm937759 11 71507152 [T/G] NM_001099653,NM_018172,NM_152563,NR_073386,NR_073388 FAM86C1,FAM86C1,FAM86C1,ALG1L9P,ALG1L9P EXON Missense_N110K,Missense_N117K,Missense_N83K,Silent,Silent exm937760 11 71507157 [T/C] NM_001099653,NM_018172,NM_152563,NR_073386,NR_073388 FAM86C1,FAM86C1,FAM86C1,ALG1L9P,ALG1L9P EXON Missense_T112I,Missense_T119I,Missense_T85I,Silent,Silent exm2267192 11 71524861 [A/G] NR_073386,NR_073388,NR_073387 ALG1L9P,ALG1L9P,ALG1L9P EXON Silent,Silent,Silent exm937812 11 71640167 [T/G] NR_024147,NR_024148,NM_018320 RNF121,RNF121,RNF121 EXON Silent,Silent,Missense_D20E exm937838 11 71701763 [A/G] NR_024147,NR_024148,NM_018320 RNF121,RNF121,RNF121 EXON Silent,Silent,Synonymous_G209G exm937863 11 71711432 [A/C] NM_001039659,NM_001039660,NM_173044,NM_173042,NM_005699,NM_001145057,NM_001145055 IL18BP,IL18BP,IL18BP,IL18BP,IL18BP,IL18BP,IL18BP EXON Missense_H22N,Missense_H22N,Missense_H22N,Missense_H22N,Missense_H22N,Missense_H22N,Missense_H22N exm937873 11 71711546 [T/G] NM_001039659,NM_001039660,NM_173044,NM_173042,NM_005699,NM_001145057,NM_001145055 IL18BP,IL18BP,IL18BP,IL18BP,IL18BP,IL18BP,IL18BP EXON Missense_A60S,Missense_A60S,Missense_A60S,Missense_A60S,Missense_A60S,Missense_A60S,Missense_A60S exm937880 11 71712283 [A/G] NM_001039659,NM_001039660,NM_173044,NM_173042,NM_005699,NM_001145057,NM_001145055 IL18BP,IL18BP,IL18BP,IL18BP,IL18BP,IL18BP,IL18BP EXON Missense_R91H,Missense_R91H,Missense_R91H,Missense_R91H,Missense_R91H,Missense_R91H,Silent exm937882 11 71712453 [A/G] NM_001039659,NM_001039660,NM_173044,NM_173042,NM_005699,NM_001145057,NM_001145055 IL18BP,IL18BP,IL18BP,IL18BP,IL18BP,IL18BP,IL18BP EXON Missense_R121Q,Missense_R121Q,Missense_R121Q,Missense_R121Q,Missense_R121Q,Missense_R121Q,Silent exm937884 11 71712531 [A/G] NM_001039659,NM_001039660,NM_173044,NM_173042,NM_005699,NM_001145057,NM_001145055 IL18BP,IL18BP,IL18BP,IL18BP,IL18BP,IL18BP,IL18BP EXON Missense_N147S,Missense_N147S,Silent,Missense_N147S,Missense_N147S,Missense_N147S,Silent exm937885 11 71712548 [A/G] NM_001039659,NM_001039660,NM_173044,NM_173042,NM_005699,NM_001145057,NM_001145055 IL18BP,IL18BP,IL18BP,IL18BP,IL18BP,IL18BP,IL18BP EXON Missense_V153M,Missense_V153M,Silent,Missense_V153M,Missense_V153M,Missense_V153M,Silent exm937890 11 71712680 [A/T] NM_001039659,NM_001039660,NM_173044,NM_173042,NM_005699,NM_001145057,NM_001145055 IL18BP,IL18BP,IL18BP,IL18BP,IL18BP,IL18BP,IL18BP EXON Silent,Silent,Silent,Silent,Missense_S197C,Silent,Silent exm937892 11 71712828 [A/T] NM_001039659,NM_001039660,NM_173044,NM_173042,NM_005699,NM_001145057,NM_001145055 IL18BP,IL18BP,IL18BP,IL18BP,IL18BP,IL18BP,IL18BP EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent exm937895 11 71712875 [T/C] NM_001039659,NM_001039660,NM_173044,NM_173042,NM_005699,NM_001145057,NM_001145055 IL18BP,IL18BP,IL18BP,IL18BP,IL18BP,IL18BP,IL18BP EXON Missense_S185P,Missense_S185P,Missense_L142P,Missense_S185P,Silent,Missense_S185P,Missense_L94P exm937923 11 71715129 [A/G] NM_006185 NUMA1 EXON Missense_S2047L exm937924 11 71715138 [T/C] NM_006185 NUMA1 EXON Missense_R2044Q exm937925 11 71715139 [A/G] NM_006185 NUMA1 EXON Missense_R2044W exm937934 11 71715733 [A/G] NM_006185 NUMA1 EXON Missense_R1987C exm937942 11 71716349 [A/G] NM_006185 NUMA1 EXON Missense_I1920T exm937947 11 71717119 [T/C] NM_006185 NUMA1 EXON Missense_R1885H exm937959 11 71717267 [A/G] NM_006185 NUMA1 EXON Missense_Y1836H exm937962 11 71717300 [T/C] NM_006185 NUMA1 EXON Missense_V1825M exm937969 11 71718294 [A/G] NM_006185 NUMA1 EXON Missense_R1802C exm937970 11 71718297 [T/C] NM_006185 NUMA1 EXON Missense_G1801S exm937973 11 71718315 [T/C] NM_006185 NUMA1 EXON Missense_D1795N exm937979 11 71718413 [T/C] NM_006185 NUMA1 EXON Missense_R1762H exm937980 11 71718414 [A/G] NM_006185 NUMA1 EXON Missense_R1762C exm937984 11 71719830 [A/G] NM_006185 NUMA1 EXON Missense_L1707S exm937988 11 71720030 [A/G] NM_006185 NUMA1 EXON Missense_R1681C exm937995 11 71720165 [A/G] NM_006185 NUMA1 EXON Missense_R1636W exm938018 11 71724131 [T/C] NM_006185 NUMA1 EXON Missense_R1473Q exm938024 11 71724347 [T/C] NM_006185 NUMA1 EXON Missense_R1401Q exm938031 11 71724515 [G/C] NM_006185 NUMA1 EXON Missense_T1345S exm2250235 11 71724733 [T/C] NM_006185 NUMA1 EXON Synonymous_L1272L exm938043 11 71724733 [T/C] NM_006185 NUMA1 EXON Synonymous_L1272L exm938052 11 71724962 [T/C] NM_006185 NUMA1 EXON Missense_R1196H exm938056 11 71725079 [T/C] NM_006185 NUMA1 EXON Missense_R1157Q exm938057 11 71725089 [A/G] NM_006185 NUMA1 EXON Missense_R1154W exm938061 11 71725144 [T/G] NM_006185 NUMA1 EXON Missense_Q1135H exm938063 11 71725181 [T/C] NM_006185 NUMA1 EXON Missense_E1123G exm938066 11 71725236 [A/G] NM_006185 NUMA1 EXON Missense_S1105P exm938067 11 71725245 [T/C] NM_006185 NUMA1 EXON Missense_A1102T exm938068 11 71725284 [C/G] NM_006185 NUMA1 EXON Missense_Q1089E exm938075 11 71725397 [A/G] NM_006185 NUMA1 EXON Missense_A1051V exm1734894 11 71725451 [T/C] NM_006185 NUMA1 EXON Missense_R1033Q exm938089 11 71725617 [T/C] NM_006185 NUMA1 EXON Missense_G978S exm938090 11 71725634 [T/C] NM_006185 NUMA1 EXON Missense_R972Q exm938096 11 71725797 [A/G] NM_006185 NUMA1 EXON Missense_R918C exm938104 11 71726122 [T/A] NM_006185 NUMA1 EXON Missense_E809D exm938106 11 71726147 [T/C] NM_006185 NUMA1 EXON Missense_S801N exm938108 11 71726168 [C/G] NM_006185 NUMA1 EXON Missense_A794G exm2219392 11 71726244 [T/C] NM_006185 NUMA1 EXON Missense_A769T exm938118 11 71726379 [T/C] NM_006185 NUMA1 EXON Missense_R724G exm938123 11 71726622 [A/G] NM_006185 NUMA1 EXON Missense_R643W exm938124 11 71726651 [T/C] NM_006185 NUMA1 EXON Missense_S633N exm938125 11 71726655 [T/C] NM_006185 NUMA1 EXON Missense_D632N exm938130 11 71726709 [G/C] NM_006185 NUMA1 EXON Missense_A614P exm2250236 11 71726833 [T/C] NM_006185 NUMA1 EXON Synonymous_E572E exm938146 11 71727119 [T/C] NM_006185 NUMA1 EXON Missense_N477S exm938149 11 71727153 [T/G] NM_006185 NUMA1 EXON Missense_S466R exm938153 11 71727221 [T/C] NM_006185 NUMA1 EXON Missense_R443Q exm938154 11 71727222 [G/C] NM_006185 NUMA1 EXON Missense_R443G exm938158 11 71727468 [T/C] NM_006185 NUMA1 EXON Missense_G410S exm938163 11 71728819 [T/A] NM_006185 NUMA1 EXON Missense_T345S exm938164 11 71728822 [C/G] NM_006185 NUMA1 EXON Missense_L344V exm938169 11 71729276 [A/G] NM_006185 NUMA1 EXON Missense_R311C exm938174 11 71729517 [A/G] NM_006185 NUMA1 EXON Missense_A262V exm938177 11 71729886 [T/C] NM_006185 NUMA1 EXON Missense_K242R exm938183 11 71730586 [A/G] NM_006185 NUMA1 EXON Missense_R180C exm938192 11 71733433 [T/C] NM_006185 NUMA1 EXON Missense_M108I exm938197 11 71734115 [A/G] NM_006185 NUMA1 EXON Missense_A96V exm938199 11 71734160 [A/T] NM_006185 NUMA1 EXON Missense_L81Q exm938200 11 71734181 [T/G] NM_006185 NUMA1 EXON Missense_H74P exm938201 11 71734188 [G/C] NM_006185 NUMA1 EXON Missense_R72G exm938205 11 71735373 [T/A] NM_006185 NUMA1 EXON Missense_I52N exm938209 11 71746971 [A/G] NM_006185 NUMA1 EXON Missense_R7W exm1734933 11 71746976 [A/G] NM_006185 NUMA1 EXON Missense_A5V exm2264452 11 71788217 [A/C] NM_006185 NUMA1 Silent exm938218 11 71800166 [A/G] NM_145309,NR_026886,NM_001145310,NM_001205138,NM_001145308,NM_001271471,NM_001145309,NM_001145307 LRTOMT,LRTOMT,LRTOMT,LRTOMT,LRTOMT,LRTOMT,LRTOMT,LRTOMT EXON Missense_E13K,Silent,Silent,Silent,Silent,Missense_E13K,Silent,Missense_E13K exm2219396 11 71800181 [T/C] NM_145309,NR_026886,NM_001145310,NM_001205138,NM_001145308,NM_001271471,NM_001145309,NM_001145307 LRTOMT,LRTOMT,LRTOMT,LRTOMT,LRTOMT,LRTOMT,LRTOMT,LRTOMT EXON Missense_Y18H,Silent,Silent,Silent,Silent,Missense_Y18H,Silent,Missense_Y18H exm938226 11 71804712 [A/G] NM_145309,NR_026886,NM_001145310,NM_001205138,NM_001145308,NM_001271471,NM_001145309,NM_001145307 LRTOMT,LRTOMT,LRTOMT,LRTOMT,LRTOMT,LRTOMT,LRTOMT,LRTOMT EXON Missense_D85N,Silent,Silent,Missense_D67N,Silent,Missense_D85N,Silent,Missense_D85N exm938244 11 71806451 [A/G] NM_145309,NR_026886,NM_001145310,NM_001205138,NM_001145308,NM_001271471,NM_001145309,NM_001145307 LRTOMT,LRTOMT,LRTOMT,LRTOMT,LRTOMT,LRTOMT,LRTOMT,LRTOMT EXON Missense_R155H,Silent,Silent,Missense_R137H,Silent,Silent,Silent,Silent exm938250 11 71806516 [T/C] NM_145309,NR_026886,NM_001145310,NM_001205138,NM_001145308,NM_001271471,NM_001145309,NM_001145307 LRTOMT,LRTOMT,LRTOMT,LRTOMT,LRTOMT,LRTOMT,LRTOMT,LRTOMT EXON Missense_R177C,Silent,Silent,Missense_R159C,Silent,Silent,Silent,Silent exm938255 11 71807767 [A/C] NM_145309,NR_026886,NM_001145310,NM_001205138,NM_001145308,NM_001271471,NM_001145309,NM_001145307 LRTOMT,LRTOMT,LRTOMT,LRTOMT,LRTOMT,LRTOMT,LRTOMT,LRTOMT EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm938261 11 71809354 [A/G] NM_001145310,NM_001145308,NM_001145309,NM_017907 LRTOMT,LRTOMT,LRTOMT,LAMTOR1 EXON Silent,Silent,Silent,Missense_P125L exm938274 11 71810236 [T/C] NM_001145310,NM_001145308,NM_001145309,NM_017907 LRTOMT,LRTOMT,LRTOMT,LAMTOR1 EXON Silent,Silent,Silent,Missense_E37K exm938295 11 71819718 [A/G] NM_001145310,NM_001145308,NM_001145309 LRTOMT,LRTOMT,LRTOMT EXON Missense_R168Q,Missense_R208Q,Missense_R208Q exm938336 11 71850130 [T/C] NM_000804 FOLR3 EXON Missense_R98C exm938339 11 71850152 [A/G] NM_000804 FOLR3 EXON Missense_C105Y exm938345 11 71850194 [A/G] NM_000804 FOLR3 Silent exm938360 11 71850722 [T/C] NM_000804 FOLR3 EXON Missense_L195F exm938368 11 71850785 [A/C] NM_000804 FOLR3 EXON Missense_S216R exm938381 11 71903320 [A/G] NM_016724,NM_016725,NM_000802,NM_016729 FOLR1,FOLR1,FOLR1,FOLR1 EXON Missense_N35D,Missense_N35D,Missense_N35D,Missense_N35D exm938386 11 71906361 [A/G] NM_016724,NM_016725,NM_000802,NM_016729 FOLR1,FOLR1,FOLR1,FOLR1 EXON Missense_Q72R,Missense_Q72R,Missense_Q72R,Missense_Q72R exm938387 11 71906438 [T/C] NM_016724,NM_016725,NM_000802,NM_016729 FOLR1,FOLR1,FOLR1,FOLR1 EXON Missense_R98W,Missense_R98W,Missense_R98W,Missense_R98W exm938400 11 71906953 [A/G] NM_016724,NM_016725,NM_000802,NM_016729 FOLR1,FOLR1,FOLR1,FOLR1 EXON Missense_C169Y,Missense_C169Y,Missense_C169Y,Missense_C169Y exm938402 11 71906955 [A/G] NM_016724,NM_016725,NM_000802,NM_016729 FOLR1,FOLR1,FOLR1,FOLR1 EXON Missense_A170T,Missense_A170T,Missense_A170T,Missense_A170T exm938417 11 71929684 [A/G] NM_001113534,NM_000803,NM_001113535,NM_001113536 FOLR2,FOLR2,FOLR2,FOLR2 EXON Missense_C19Y,Missense_C19Y,Missense_C19Y,Missense_C19Y exm938425 11 71932013 [A/G] NM_001113534,NM_000803,NM_001113535,NM_001113536 FOLR2,FOLR2,FOLR2,FOLR2 EXON Missense_G84S,Missense_G84S,Missense_G84S,Missense_G84S exm938428 11 71932028 [A/G] NM_001113534,NM_000803,NM_001113535,NM_001113536 FOLR2,FOLR2,FOLR2,FOLR2 EXON Missense_A89T,Missense_A89T,Missense_A89T,Missense_A89T exm938432 11 71932056 [C/G] NM_001113534,NM_000803,NM_001113535,NM_001113536 FOLR2,FOLR2,FOLR2,FOLR2 EXON Missense_T98S,Missense_T98S,Missense_T98S,Missense_T98S exm938437 11 71932236 [A/G] NM_001113534,NM_000803,NM_001113535,NM_001113536 FOLR2,FOLR2,FOLR2,FOLR2 EXON Missense_R119H,Missense_R119H,Missense_R119H,Missense_R119H exm938449 11 71932547 [A/G] NM_001113534,NM_000803,NM_001113535,NM_001113536 FOLR2,FOLR2,FOLR2,FOLR2 EXON Missense_R170H,Missense_R170H,Missense_R170H,Missense_R170H exm938452 11 71932639 [A/G] NM_001113534,NM_000803,NM_001113535,NM_001113536 FOLR2,FOLR2,FOLR2,FOLR2 EXON Missense_G201S,Missense_G201S,Missense_G201S,Missense_G201S exm938453 11 71932658 [C/G] NM_001113534,NM_000803,NM_001113535,NM_001113536 FOLR2,FOLR2,FOLR2,FOLR2 EXON Missense_W207S,Missense_W207S,Missense_W207S,Missense_W207S exm938455 11 71932697 [T/C] NM_001113534,NM_000803,NM_001113535,NM_001113536 FOLR2,FOLR2,FOLR2,FOLR2 EXON Missense_A220V,Missense_A220V,Missense_A220V,Missense_A220V exm938474 11 71939513 [T/C] NM_001567 INPPL1 EXON Missense_P123L exm938484 11 71940211 [A/G] NM_001567 INPPL1 EXON Missense_G199D exm1735078 11 71940240 [T/C] NM_001567 INPPL1 EXON Missense_R209C exm938486 11 71940241 [A/G] NM_001567 INPPL1 EXON Missense_R209H exm938488 11 71940252 [A/G] NM_001567 INPPL1 EXON Missense_T213A exm938526 11 71942079 [T/C] NM_001567 INPPL1 EXON Missense_S448L exm938535 11 71943374 [T/C] NM_001567 INPPL1 EXON Missense_T569M exm938544 11 71943961 [A/C] NM_001567 INPPL1 EXON Missense_L632I exm938565 11 71945658 [T/C] NM_001567 INPPL1 EXON Missense_T805M exm2250240 11 71946765 [C/G] NM_001567 INPPL1 EXON Synonymous_A902A exm938581 11 71946912 [T/C] NM_001567 INPPL1 EXON Missense_F921L exm938583 11 71946964 [T/C] NM_001567 INPPL1 EXON Missense_P938L exm938617 11 71948802 [T/C] NM_001567 INPPL1 EXON Missense_R1172C exm938621 11 71949117 [T/G] NM_001567 INPPL1 EXON Missense_G1195V exm938630 11 71949353 [T/G] NM_001567 INPPL1 EXON Missense_A1245S exm938631 11 71949368 [T/C] NM_001567 INPPL1 EXON Missense_L1250F exm1735139 11 71949380 [T/C] NM_001567 INPPL1 EXON Synonymous_L1254L exm938654 11 72004419 [T/C] NM_001258392,NM_030813,NM_001258394,NM_001258393 CLPB,CLPB,CLPB,CLPB EXON Missense_T676A,Missense_T706A,Missense_T661A,Missense_T647A exm938657 11 72004452 [A/G] NM_001258392,NM_030813,NM_001258394,NM_001258393 CLPB,CLPB,CLPB,CLPB EXON Missense_R665W,Missense_R695W,Missense_R650W,Missense_R636W exm938660 11 72004487 [A/G] NM_001258392,NM_030813,NM_001258394,NM_001258393 CLPB,CLPB,CLPB,CLPB EXON Missense_I653T,Missense_I683T,Missense_I638T,Missense_I624T exm938665 11 72004649 [T/C] NM_001258392,NM_030813,NM_001258394,NM_001258393 CLPB,CLPB,CLPB,CLPB EXON Missense_R599H,Missense_R629H,Missense_R584H,Missense_R570H exm938667 11 72004653 [A/G] NM_001258392,NM_030813,NM_001258394,NM_001258393 CLPB,CLPB,CLPB,CLPB EXON Missense_R598C,Missense_R628C,Missense_R583C,Missense_R569C exm2219404 11 72005131 [T/C] NM_001258392,NM_030813,NM_001258394,NM_001258393 CLPB,CLPB,CLPB,CLPB EXON Missense_E574K,Missense_E604K,Missense_E559K,Missense_E545K exm938683 11 72005710 [A/G] NM_001258392,NM_030813,NM_001258394,NM_001258393 CLPB,CLPB,CLPB,CLPB EXON Missense_T505I,Missense_T535I,Missense_T490I,Missense_T476I exm938685 11 72006546 [A/G] NM_001258392,NM_030813,NM_001258394,NM_001258393 CLPB,CLPB,CLPB,CLPB EXON Synonymous_A492A,Synonymous_A522A,Synonymous_A477A,Synonymous_A463A exm2250242 11 72006546 [A/G] NM_001258392,NM_030813,NM_001258394,NM_001258393 CLPB,CLPB,CLPB,CLPB EXON Synonymous_A492A,Synonymous_A522A,Synonymous_A477A,Synonymous_A463A exm938686 11 72006547 [G/C] NM_001258392,NM_030813,NM_001258394,NM_001258393 CLPB,CLPB,CLPB,CLPB EXON Missense_A492G,Missense_A522G,Missense_A477G,Missense_A463G exm938687 11 72006548 [A/C] NM_001258392,NM_030813,NM_001258394,NM_001258393 CLPB,CLPB,CLPB,CLPB EXON Missense_A492S,Missense_A522S,Missense_A477S,Missense_A463S exm938699 11 72012923 [T/C] NM_001258392,NM_030813,NM_001258394,NM_001258393 CLPB,CLPB,CLPB,CLPB EXON Missense_N418S,Missense_N448S,Missense_N403S,Missense_N389S exm938702 11 72013356 [A/G] NM_001258392,NM_030813,NM_001258394,NM_001258393 CLPB,CLPB,CLPB,CLPB EXON Nonsense_R387X,Nonsense_R417X,Nonsense_R372X,Nonsense_R358X exm938704 11 72013383 [T/C] NM_001258392,NM_030813,NM_001258394,NM_001258393 CLPB,CLPB,CLPB,CLPB EXON Missense_R378G,Missense_R408G,Missense_R363G,Missense_R349G exm938711 11 72019648 [A/G] NM_001258392,NM_030813,NM_001258394,NM_001258393 CLPB,CLPB,CLPB,CLPB EXON Missense_A330V,Missense_A360V,Missense_A315V,Missense_A301V exm1735203 11 72028204 [A/G] NM_001258392,NM_030813,NM_001258394,NM_001258393 CLPB,CLPB,CLPB,CLPB EXON Nonsense_R312X,Nonsense_R342X,Nonsense_R297X,Nonsense_R283X exm938721 11 72028249 [A/G] NM_001258392,NM_030813,NM_001258394,NM_001258393 CLPB,CLPB,CLPB,CLPB EXON Missense_R297W,Missense_R327W,Missense_R282W,Missense_R268W exm938723 11 72040830 [G/C] NM_001258392,NM_030813,NM_001258394,NM_001258393 CLPB,CLPB,CLPB,CLPB EXON Missense_R265T,Missense_R295T,Missense_R250T,Missense_R236T exm1735236 11 72083967 [A/G] NM_001258392,NM_030813,NM_001258394,NM_001258393 CLPB,CLPB,CLPB,CLPB Silent,Silent,Silent,Silent exm1735238 11 72083970 [A/G] NM_001258392,NM_030813,NM_001258394,NM_001258393 CLPB,CLPB,CLPB,CLPB EXON Silent,Synonymous_G245G,Synonymous_G200G,Silent exm938734 11 72084037 [T/C] NM_001258392,NM_030813,NM_001258394,NM_001258393 CLPB,CLPB,CLPB,CLPB EXON Silent,Missense_S223N,Missense_S178N,Silent exm938735 11 72084044 [T/C] NM_001258392,NM_030813,NM_001258394,NM_001258393 CLPB,CLPB,CLPB,CLPB EXON Silent,Missense_G221S,Missense_G176S,Silent exm1735241 11 72091352 [T/C] NM_001258392,NM_030813,NM_001258394,NM_001258393 CLPB,CLPB,CLPB,CLPB EXON Missense_K207E,Missense_K207E,Missense_K162E,Missense_K178E exm938749 11 72145170 [A/C] NM_001258392,NM_030813,NM_001258394,NM_001258393 CLPB,CLPB,CLPB,CLPB EXON Missense_A117S,Missense_A117S,Missense_R36L,Missense_A117S exm938755 11 72145307 [G/C] NM_001258392,NM_030813,NM_001258394,NM_001258393 CLPB,CLPB,CLPB,CLPB EXON Missense_G71A,Missense_G71A,Silent,Missense_G71A exm-rs341065 11 72269214 [A/G] exm938780 11 72288437 [T/A] NM_001146209,NM_001143839,NM_002599,NM_001243784 PDE2A,PDE2A,PDE2A,PDE2A EXON Missense_D930E,Missense_D932E,Missense_D939E,Missense_D918E exm938824 11 72293490 [T/C] NM_001146209,NM_001143839,NM_002599,NM_001243784 PDE2A,PDE2A,PDE2A,PDE2A EXON Missense_M608V,Missense_M610V,Missense_M617V,Missense_M596V exm938858 11 72297209 [T/C] NM_001146209,NM_001143839,NM_002599,NM_001243784 PDE2A,PDE2A,PDE2A,PDE2A EXON Missense_E354K,Missense_E356K,Missense_E363K,Missense_E342K exm938859 11 72297215 [T/C] NM_001146209,NM_001143839,NM_002599,NM_001243784 PDE2A,PDE2A,PDE2A,PDE2A EXON Missense_E352K,Missense_E354K,Missense_E361K,Missense_E340K exm938867 11 72299932 [T/C] NM_001146209,NM_001143839,NM_002599,NM_001243784 PDE2A,PDE2A,PDE2A,PDE2A EXON Missense_M313I,Missense_M315I,Missense_M322I,Missense_M301I exm938869 11 72300219 [A/G] NM_001146209,NM_001143839,NM_002599,NM_001243784 PDE2A,PDE2A,PDE2A,PDE2A EXON Synonymous_S304S,Synonymous_S306S,Synonymous_S313S,Synonymous_S292S exm1735326 11 72300795 [A/G] NM_001146209,NM_001143839,NM_002599,NM_001243784 PDE2A,PDE2A,PDE2A,PDE2A EXON Synonymous_P282P,Synonymous_P284P,Synonymous_P291P,Synonymous_P270P exm938879 11 72301503 [A/G] NM_001146209,NM_001143839,NM_002599,NM_001243784 PDE2A,PDE2A,PDE2A,PDE2A EXON Missense_T215I,Missense_T217I,Missense_T224I,Missense_T203I exm938880 11 72301516 [A/C] NM_001146209,NM_001143839,NM_002599,NM_001243784 PDE2A,PDE2A,PDE2A,PDE2A EXON Missense_G211W,Missense_G213W,Missense_G220W,Missense_G199W exm2271519 11 72335834 [T/C] NM_001146209,NM_001143839,NM_002599,NM_001243784 PDE2A,PDE2A,PDE2A,PDE2A Silent,Silent,Silent,Silent exm938937 11 72397101 [T/C] NM_015242,NM_001040118,NM_001135190 ARAP1,ARAP1,ARAP1 EXON Missense_A1196T,Missense_A1441T,Missense_A1124T exm938958 11 72403798 [A/G] NM_015242,NM_001040118,NM_001135190 ARAP1,ARAP1,ARAP1 EXON Synonymous_T1084T,Synonymous_T1329T,Silent exm938960 11 72403821 [A/G] NM_015242,NM_001040118,NM_001135190 ARAP1,ARAP1,ARAP1 EXON Missense_P1077S,Missense_P1322S,Silent exm938962 11 72404380 [T/C] NM_015242,NM_001040118,NM_001135190 ARAP1,ARAP1,ARAP1 EXON Missense_K1070R,Missense_K1315R,Missense_K1009R exm938976 11 72406046 [T/C] NM_015242,NM_001040118,NM_001135190 ARAP1,ARAP1,ARAP1 EXON Missense_V980I,Missense_V1225I,Missense_V919I exm2250245 11 72406101 [A/G] NM_015242,NM_001040118,NM_001135190 ARAP1,ARAP1,ARAP1 EXON Synonymous_I961I,Synonymous_I1206I,Synonymous_I900I exm938985 11 72406763 [A/G] NM_015242,NM_001040118,NM_001135190 ARAP1,ARAP1,ARAP1 EXON Synonymous_S895S,Synonymous_S1140S,Synonymous_S834S exm938988 11 72406816 [T/G] NM_015242,NM_001040118,NM_001135190 ARAP1,ARAP1,ARAP1 EXON Missense_K878Q,Missense_K1123Q,Missense_K817Q exm938996 11 72407649 [A/G] NM_015242,NM_001040118,NM_001135190 ARAP1,ARAP1,ARAP1 EXON Missense_R828W,Missense_R1073W,Missense_R767W exm938997 11 72407663 [T/C] NM_015242,NM_001040118,NM_001135190 ARAP1,ARAP1,ARAP1 EXON Missense_R823Q,Missense_R1068Q,Missense_R762Q exm939002 11 72408055 [C/G] NM_015242,NM_001040118,NM_001135190 ARAP1,ARAP1,ARAP1 EXON Missense_Q802E,Missense_Q1047E,Missense_Q741E exm2250246 11 72408077 [A/C] NM_015242,NM_001040118,NM_001135190 ARAP1,ARAP1,ARAP1 EXON Synonymous_P794P,Synonymous_P1039P,Synonymous_P733P exm939013 11 72408401 [C/G] NM_015242,NM_001040118,NM_001135190 ARAP1,ARAP1,ARAP1 EXON Missense_V729L,Missense_V974L,Missense_V668L exm939017 11 72408434 [A/G] NM_015242,NM_001040118,NM_001135190 ARAP1,ARAP1,ARAP1 EXON Nonsense_Q718X,Nonsense_Q963X,Nonsense_Q657X exm939027 11 72408973 [T/C] NM_015242,NM_001040118,NM_001135190 ARAP1,ARAP1,ARAP1 EXON Missense_R662Q,Missense_R907Q,Missense_R601Q exm939039 11 72410080 [G/C] NM_015242,NM_001040118,NM_001135190 ARAP1,ARAP1,ARAP1 EXON Missense_Q592H,Missense_Q837H,Missense_Q531H exm939053 11 72412700 [A/G] NM_015242,NM_001040118,NM_001135190 ARAP1,ARAP1,ARAP1 EXON Missense_R521W,Missense_R766W,Missense_R460W exm939055 11 72412735 [A/G] NM_015242,NM_001040118,NM_001135190 ARAP1,ARAP1,ARAP1 EXON Missense_A509V,Missense_A754V,Missense_A448V exm939064 11 72413997 [A/G] NM_015242,NM_001040118,NM_001135190 ARAP1,ARAP1,ARAP1 EXON Missense_A462V,Missense_A707V,Missense_A401V exm939065 11 72414021 [A/G] NM_015242,NM_001040118,NM_001135190 ARAP1,ARAP1,ARAP1 EXON Missense_T454M,Missense_T699M,Missense_T393M exm1735445 11 72416909 [T/C] NM_015242,NM_001040118,NM_001135190 ARAP1,ARAP1,ARAP1 EXON Missense_V339I,Missense_V584I,Missense_V339I exm939089 11 72418339 [A/G] NM_015242,NM_001040118,NM_001135190 ARAP1,ARAP1,ARAP1 EXON Missense_S290L,Missense_S535L,Missense_S290L exm939103 11 72421492 [A/G] NM_015242,NM_001040118,NM_001135190 ARAP1,ARAP1,ARAP1 EXON Missense_F207L,Missense_F452L,Missense_F207L exm939107 11 72421563 [A/G] NM_015242,NM_001040118,NM_001135190 ARAP1,ARAP1,ARAP1 EXON Missense_S183F,Missense_S428F,Missense_S183F exm939110 11 72421581 [T/C] NM_015242,NM_001040118,NM_001135190 ARAP1,ARAP1,ARAP1 EXON Missense_R177H,Missense_R422H,Missense_R177H exm939117 11 72422155 [A/G] NM_015242,NM_001040118,NM_001135190 ARAP1,ARAP1,ARAP1 EXON Missense_A130V,Missense_A375V,Missense_A130V exm939122 11 72422494 [T/C] NM_015242,NM_001040118,NM_001135190 ARAP1,ARAP1,ARAP1 EXON Missense_R113Q,Missense_R358Q,Missense_R113Q exm1735467 11 72423314 [T/C] NM_015242,NM_001040118,NM_001135190 ARAP1,ARAP1,ARAP1 EXON Missense_G72R,Missense_G317R,Missense_G72R exm939133 11 72423380 [T/C] NM_015242,NM_001040118,NM_001135190 ARAP1,ARAP1,ARAP1 EXON Missense_G50R,Missense_G295R,Missense_G50R exm939136 11 72423556 [C/G] NM_015242,NM_001040118,NM_001135190 ARAP1,ARAP1,ARAP1 EXON Missense_E24Q,Missense_E269Q,Missense_E24Q exm2250247 11 72423557 [A/G] NM_015242,NM_001040118,NM_001135190 ARAP1,ARAP1,ARAP1 EXON Synonymous_S23S,Synonymous_S268S,Synonymous_S23S exm939138 11 72423594 [T/C] NM_015242,NM_001040118,NM_001135190 ARAP1,ARAP1,ARAP1 EXON Missense_R11Q,Missense_R256Q,Missense_R11Q exm1735474 11 72423607 [A/G] NM_015242,NM_001040118,NM_001135190 ARAP1,ARAP1,ARAP1 EXON Missense_P7S,Missense_P252S,Missense_P7S exm2219411 11 72425302 [T/C] NM_015242,NM_001040118,NM_001135190 ARAP1,ARAP1,ARAP1 EXON Silent,Missense_E192K,Silent exm-rs11603334 11 72432985 [A/G] NM_015242,NM_001040118,NM_001135190 ARAP1,ARAP1,ARAP1 EXON Silent,Silent,Silent exm-rs1552224 11 72433098 [A/C] NM_015242,NM_001040118,NM_001135190 ARAP1,ARAP1,ARAP1 EXON Silent,Silent,Silent exm939180 11 72438127 [T/C] NM_001040118 ARAP1 EXON Missense_R16Q exm939203 11 72466790 [A/G] NM_006645 STARD10 EXON Missense_P196S exm939205 11 72468842 [T/C] NM_006645 STARD10 EXON Missense_I183V exm939208 11 72469619 [T/C] NM_006645 STARD10 EXON Missense_M139V exm939213 11 72470294 [T/C] NM_006645 STARD10 EXON Missense_V114M exm939217 11 72470318 [T/C] NM_006645 STARD10 EXON Missense_A106T exm939222 11 72470415 [G/C] NM_006645 STARD10 EXON Missense_E73D exm939239 11 72527854 [T/C] NM_033388 ATG16L2 EXON Missense_T67I exm939240 11 72527860 [A/G] NM_033388 ATG16L2 EXON Missense_H69R exm939260 11 72533536 [T/C] NM_033388 ATG16L2 EXON Missense_R220W exm939280 11 72535805 [T/C] NM_033388 ATG16L2 EXON Missense_I305T exm939282 11 72535847 [C/G] NM_033388 ATG16L2 EXON Missense_C319S exm939288 11 72536377 [C/G] NM_033388 ATG16L2 EXON Missense_R343G exm939289 11 72536378 [A/G] NM_033388 ATG16L2 EXON Missense_R343H exm939294 11 72537755 [T/C] NM_033388 ATG16L2 EXON Missense_L418P exm939298 11 72537859 [T/C] NM_033388 ATG16L2 EXON Missense_R453C exm939313 11 72539960 [A/G] NM_033388 ATG16L2 EXON Missense_C568Y exm939315 11 72539995 [A/G] NM_033388 ATG16L2 EXON Missense_G580R exm939316 11 72539998 [T/A] NM_033388 ATG16L2 EXON Nonsense_K581X exm939319 11 72540348 [T/C] NM_033388 ATG16L2 EXON Synonymous_C591C exm939323 11 72540382 [A/G] NM_033388 ATG16L2 EXON Missense_G603R exm1735624 11 72554240 [A/G] NM_014824 FCHSD2 EXON Missense_T554M exm939356 11 72560855 [C/G] NM_014824 FCHSD2 EXON Missense_P463R exm939360 11 72578911 [A/G] NM_014824 FCHSD2 EXON Missense_S436L exm939364 11 72578956 [T/C] NM_014824 FCHSD2 EXON Missense_R421Q exm939365 11 72578968 [A/G] NM_014824 FCHSD2 EXON Missense_L417P exm939370 11 72579070 [A/G] NM_014824 FCHSD2 EXON Missense_I383T exm939375 11 72598601 [A/C] NM_014824 FCHSD2 EXON Missense_C354G exm939377 11 72600884 [T/C] NM_014824 FCHSD2 EXON Missense_H344R exm2250252 11 72712037 [T/G] NM_014824 FCHSD2 EXON Synonymous_R129R exm2271622 11 72935825 [T/C] NM_176072,NM_002564,NM_176071 P2RY2,P2RY2,P2RY2 Silent,Silent,Silent exm939419 11 72945254 [A/G] NM_176072,NM_002564,NM_176071 P2RY2,P2RY2,P2RY2 EXON Missense_D17G,Missense_D17G,Missense_D17G exm939421 11 72945288 [A/C] NM_176072,NM_002564,NM_176071 P2RY2,P2RY2,P2RY2 EXON Missense_N28K,Missense_N28K,Missense_N28K exm1735795 11 72945303 [C/G] NM_176072,NM_002564,NM_176071 P2RY2,P2RY2,P2RY2 EXON Nonsense_Y33X,Nonsense_Y33X,Nonsense_Y33X exm939423 11 72945341 [T/C] NM_176072,NM_002564,NM_176071 P2RY2,P2RY2,P2RY2 EXON Missense_P46L,Missense_P46L,Missense_P46L exm2250255 11 72945351 [T/C] NM_176072,NM_002564,NM_176071 P2RY2,P2RY2,P2RY2 EXON Synonymous_C49C,Synonymous_C49C,Synonymous_C49C exm939424 11 72945351 [T/C] NM_176072,NM_002564,NM_176071 P2RY2,P2RY2,P2RY2 EXON Synonymous_C49C,Synonymous_C49C,Synonymous_C49C exm939426 11 72945434 [T/C] NM_176072,NM_002564,NM_176071 P2RY2,P2RY2,P2RY2 EXON Missense_V77A,Missense_V77A,Missense_V77A exm939443 11 72945745 [A/G] NM_176072,NM_002564,NM_176071 P2RY2,P2RY2,P2RY2 EXON Missense_V181I,Missense_V181I,Missense_V181I exm939445 11 72945799 [A/G] NM_176072,NM_002564,NM_176071 P2RY2,P2RY2,P2RY2 EXON Missense_S199G,Missense_S199G,Missense_S199G exm2250256 11 72946020 [T/C] NM_176072,NM_002564,NM_176071 P2RY2,P2RY2,P2RY2 EXON Synonymous_R272R,Synonymous_R272R,Synonymous_R272R exm939463 11 72946140 [C/G] NM_176072,NM_002564,NM_176071 P2RY2,P2RY2,P2RY2 EXON Missense_R312S,Missense_R312S,Missense_R312S exm939467 11 72946190 [A/C] NM_176072,NM_002564,NM_176071 P2RY2,P2RY2,P2RY2 EXON Missense_A329D,Missense_A329D,Missense_A329D exm939470 11 72946204 [T/C] NM_176072,NM_002564,NM_176071 P2RY2,P2RY2,P2RY2 EXON Missense_R334C,Missense_R334C,Missense_R334C exm939471 11 72946279 [T/C] NM_176072,NM_002564,NM_176071 P2RY2,P2RY2,P2RY2 EXON Missense_S359P,Missense_S359P,Missense_S359P exm939473 11 72946298 [T/C] NM_176072,NM_002564,NM_176071 P2RY2,P2RY2,P2RY2 EXON Missense_T365M,Missense_T365M,Missense_T365M exm939474 11 72946301 [G/C] NM_176072,NM_002564,NM_176071 P2RY2,P2RY2,P2RY2 EXON Missense_P366R,Missense_P366R,Missense_P366R exm939480 11 73007627 [A/G] NM_176797,NM_176796,NM_176798,NM_004154 P2RY6,P2RY6,P2RY6,P2RY6 EXON Missense_E22K,Missense_E22K,Missense_E22K,Missense_E22K exm939486 11 73007745 [T/C] NM_176797,NM_176796,NM_176798,NM_004154 P2RY6,P2RY6,P2RY6,P2RY6 EXON Missense_T61M,Missense_T61M,Missense_T61M,Missense_T61M exm939493 11 73007871 [A/G] NM_176797,NM_176796,NM_176798,NM_004154 P2RY6,P2RY6,P2RY6,P2RY6 EXON Missense_R103H,Missense_R103H,Missense_R103H,Missense_R103H exm939499 11 73008030 [G/C] NM_176797,NM_176796,NM_176798,NM_004154 P2RY6,P2RY6,P2RY6,P2RY6 EXON Missense_T156R,Missense_T156R,Missense_T156R,Missense_T156R exm939500 11 73008059 [A/G] NM_176797,NM_176796,NM_176798,NM_004154 P2RY6,P2RY6,P2RY6,P2RY6 EXON Missense_A166T,Missense_A166T,Missense_A166T,Missense_A166T exm939520 11 73008489 [A/G] NM_176797,NM_176796,NM_176798,NM_004154 P2RY6,P2RY6,P2RY6,P2RY6 EXON Missense_R309H,Missense_R309H,Missense_R309H,Missense_R309H exm939551 11 73020390 [T/C] NM_014786 ARHGEF17 EXON Missense_I236T exm939553 11 73020399 [A/C] NM_014786 ARHGEF17 EXON Missense_S239Y exm939554 11 73020422 [A/G] NM_014786 ARHGEF17 EXON Missense_A247T exm939560 11 73020633 [C/G] NM_014786 ARHGEF17 EXON Missense_S317T exm939562 11 73020686 [A/G] NM_014786 ARHGEF17 EXON Missense_A335T exm939570 11 73020846 [T/G] NM_014786 ARHGEF17 EXON Missense_R388L exm939572 11 73020853 [A/C] NM_014786 ARHGEF17 EXON Missense_S390R exm939580 11 73020965 [A/C] NM_014786 ARHGEF17 EXON Missense_L428M exm2250257 11 73021126 [T/C] NM_014786 ARHGEF17 EXON Synonymous_D481D exm939596 11 73021254 [T/C] NM_014786 ARHGEF17 EXON Missense_A524V exm1735886 11 73021367 [A/G] NM_014786 ARHGEF17 EXON Missense_S562G exm939608 11 73021466 [A/G] NM_014786 ARHGEF17 EXON Missense_A595T exm939630 11 73021866 [C/G] NM_014786 ARHGEF17 EXON Missense_G728A exm939632 11 73022007 [T/C] NM_014786 ARHGEF17 EXON Missense_M775T exm939637 11 73022096 [C/G] NM_014786 ARHGEF17 EXON Missense_Q805E exm1735903 11 73022343 [A/G] NM_014786 ARHGEF17 EXON Missense_R887K exm2219419 11 73022385 [A/G] NM_014786 ARHGEF17 EXON Missense_R901Q exm939655 11 73022427 [T/C] NM_014786 ARHGEF17 EXON Missense_P915L exm939665 11 73022615 [T/G] NM_014786 ARHGEF17 EXON Missense_V978F exm939674 11 73022727 [T/A] NM_014786 ARHGEF17 EXON Missense_H1015L exm1735918 11 73057992 [A/G] NM_014786 ARHGEF17 EXON Missense_R1086H exm939696 11 73063992 [G/C] NM_014786 ARHGEF17 EXON Missense_Q1130E exm939710 11 73067304 [T/C] NM_014786 ARHGEF17 EXON Missense_R1250C exm939721 11 73067773 [A/G] NM_014786 ARHGEF17 EXON Missense_R1287Q exm939735 11 73070879 [A/G] NM_014786 ARHGEF17 EXON Missense_G1363E exm939739 11 73070927 [A/G] NM_014786 ARHGEF17 EXON Missense_R1379H exm939746 11 73071453 [T/C] NM_014786 ARHGEF17 EXON Missense_P1432L exm939754 11 73071552 [A/C] NM_014786 ARHGEF17 EXON Missense_A1465D exm939772 11 73073498 [A/G] NM_014786 ARHGEF17 EXON Missense_R1572K exm939781 11 73073588 [T/C] NM_014786 ARHGEF17 EXON Missense_P1602L exm939788 11 73074293 [T/C] NM_014786 ARHGEF17 EXON Missense_T1680I exm939791 11 73074364 [A/G] NM_014786 ARHGEF17 EXON Missense_G1704S exm939794 11 73074409 [A/G] NM_014786 ARHGEF17 EXON Missense_G1719S exm939804 11 73074872 [A/G] NM_014786 ARHGEF17 EXON Missense_C1776Y exm939811 11 73076471 [A/G] NM_014786 ARHGEF17 EXON Missense_V1863M exm939814 11 73076519 [A/G] NM_014786 ARHGEF17 EXON Missense_G1879S exm939816 11 73076531 [A/G] NM_014786 ARHGEF17 EXON Missense_V1883M exm939830 11 73076741 [A/G] NM_014786 ARHGEF17 EXON Missense_R1915Q exm939838 11 73078685 [A/G] NM_014786 ARHGEF17 EXON Missense_A2018T exm1735982 11 73078741 [C/G] NM_014786 ARHGEF17 EXON Missense_F2036L exm939842 11 73078743 [A/G] NM_014786 ARHGEF17 EXON Missense_R2037Q exm939848 11 73100204 [A/G] NM_152222,NM_032871 RELT,RELT EXON Missense_R8Q,Missense_R8Q exm939853 11 73101614 [A/G] NM_152222,NM_032871 RELT,RELT EXON Missense_A22T,Missense_A22T exm939880 11 73103370 [T/C] NM_152222,NM_032871 RELT,RELT EXON Missense_A161V,Missense_A161V exm939890 11 73103484 [T/G] NM_152222,NM_032871 RELT,RELT EXON Missense_V199G,Missense_V199G exm939896 11 73104927 [T/C] NM_152222,NM_032871 RELT,RELT EXON Missense_I224T,Missense_I224T exm939902 11 73105328 [C/G] NM_152222,NM_032871 RELT,RELT EXON Missense_Q252E,Missense_Q252E exm939903 11 73105341 [T/C] NM_152222,NM_032871 RELT,RELT EXON Missense_T256M,Missense_T256M exm939926 11 73105728 [T/C] NM_152222,NM_032871 RELT,RELT EXON Missense_A332V,Missense_A332V exm939927 11 73105730 [A/G] NM_152222,NM_032871 RELT,RELT EXON Missense_G333R,Missense_G333R exm939929 11 73105746 [G/C] NM_152222,NM_032871 RELT,RELT EXON Missense_R338P,Missense_R338P exm939931 11 73105761 [A/C] NM_152222,NM_032871 RELT,RELT EXON Missense_T343N,Missense_T343N exm939933 11 73106137 [A/G] NM_152222,NM_032871 RELT,RELT EXON Missense_R351H,Missense_R351H exm939938 11 73106172 [A/G] NM_152222,NM_032871 RELT,RELT EXON Missense_M363V,Missense_M363V exm939939 11 73106185 [T/A] NM_152222,NM_032871 RELT,RELT EXON Missense_V367E,Missense_V367E exm939941 11 73106235 [T/C] NM_152222,NM_032871 RELT,RELT EXON Missense_P384S,Missense_P384S exm939944 11 73106283 [A/G] NM_152222,NM_032871 RELT,RELT EXON Missense_G400R,Missense_G400R exm939951 11 73106496 [A/G] NM_152222,NM_032871 RELT,RELT EXON Missense_R418H,Missense_R418H exm939953 11 73106507 [T/C] NM_152222,NM_032871 RELT,RELT EXON Missense_R422W,Missense_R422W exm2250259 11 73141742 [A/G] NM_015159 FAM168A EXON Synonymous_Y48Y exm1736070 11 73179451 [A/C] NM_015159 FAM168A EXON Synonymous_T23T exm2264429 11 73318285 [A/C] exm939992 11 73361610 [A/G] NM_021200,NM_001130033,NM_001130035,NM_001130034,NM_001130036 PLEKHB1,PLEKHB1,PLEKHB1,PLEKHB1,PLEKHB1 EXON Missense_R36H,Missense_R36H,Missense_R17H,Missense_R17H,Missense_R17H exm939995 11 73361721 [A/G] NM_021200,NM_001130033,NM_001130035,NM_001130034,NM_001130036 PLEKHB1,PLEKHB1,PLEKHB1,PLEKHB1,PLEKHB1 EXON Missense_R73H,Missense_R73H,Missense_R54H,Missense_R54H,Missense_R54H exm940005 11 73366882 [A/G] NM_021200,NM_001130033,NM_001130035,NM_001130034,NM_001130036 PLEKHB1,PLEKHB1,PLEKHB1,PLEKHB1,PLEKHB1 EXON Missense_R142H,Silent,Silent,Missense_R123H,Silent exm940009 11 73371804 [A/G] NM_021200,NM_001130033,NM_001130035,NM_001130034,NM_001130036 PLEKHB1,PLEKHB1,PLEKHB1,PLEKHB1,PLEKHB1 EXON Missense_V168I,Missense_V133I,Missense_V114I,Missense_V149I,Missense_V114I exm940012 11 73371847 [A/G] NM_021200,NM_001130033,NM_001130035,NM_001130034,NM_001130036 PLEKHB1,PLEKHB1,PLEKHB1,PLEKHB1,PLEKHB1 EXON Missense_N182S,Missense_N147S,Missense_N128S,Missense_N163S,Missense_N128S exm940018 11 73371898 [T/G] NM_021200,NM_001130033,NM_001130035,NM_001130034,NM_001130036 PLEKHB1,PLEKHB1,PLEKHB1,PLEKHB1,PLEKHB1 Silent,Silent,Silent,Silent,Silent exm940021 11 73388956 [C/G] NM_001243719,NM_001243718,NM_198896,NM_002869 RAB6A,RAB6A,RAB6A,RAB6A EXON Missense_G172A,Missense_G101A,Missense_G205A,Missense_G205A exm940059 11 73516094 [T/C] NM_016055 MRPL48 EXON Missense_T15I exm940070 11 73555997 [C/G] NM_016055 MRPL48 EXON Missense_S116C exm940073 11 73570975 [T/C] NM_016055 MRPL48 EXON Missense_I132T exm1736258 11 73571043 [A/C] NM_016055 MRPL48 EXON Synonymous_R155R exm940076 11 73574286 [A/G] NM_016055 MRPL48 EXON Missense_V182I exm940083 11 73584215 [A/G] NM_016565 COA4 EXON Missense_A70V exm940084 11 73584332 [T/C] NM_016565 COA4 EXON Missense_R31H exm940085 11 73584353 [A/G] NM_016565 COA4 EXON Missense_P24L exm940086 11 73584369 [T/C] NM_016565 COA4 EXON Missense_D19N exm940099 11 73598401 [A/G] NM_001267806,NM_001267803,NM_001267805,NM_001267804,NM_025155 PAAF1,PAAF1,PAAF1,PAAF1,PAAF1 EXON Silent,Missense_K14E,Missense_K14E,Missense_K14E,Missense_K31E exm940101 11 73598417 [C/G] NM_001267806,NM_001267803,NM_001267805,NM_001267804,NM_025155 PAAF1,PAAF1,PAAF1,PAAF1,PAAF1 EXON Silent,Missense_G19A,Missense_G19A,Missense_G19A,Missense_G36A exm2259858 11 73611016 [T/C] NM_001267806,NM_001267803,NM_001267805,NM_001267804,NM_025155 PAAF1,PAAF1,PAAF1,PAAF1,PAAF1 Silent,Silent,Silent,Silent,Silent exm940122 11 73611454 [A/G] NM_001267806,NM_001267803,NM_001267805,NM_001267804,NM_025155 PAAF1,PAAF1,PAAF1,PAAF1,PAAF1 EXON Missense_G59D,Missense_G157D,Missense_G157D,Missense_G157D,Missense_G174D exm940124 11 73620462 [A/T] NM_001267806,NM_001267803,NM_001267805,NM_001267804,NM_025155 PAAF1,PAAF1,PAAF1,PAAF1,PAAF1 EXON Missense_I69N,Missense_I167N,Missense_I167N,Missense_I167N,Missense_I184N exm940127 11 73620497 [T/C] NM_001267806,NM_001267803,NM_001267805,NM_001267804,NM_025155 PAAF1,PAAF1,PAAF1,PAAF1,PAAF1 EXON Nonsense_R81X,Nonsense_R179X,Nonsense_R179X,Nonsense_R179X,Nonsense_R196X exm940130 11 73620537 [C/G] NM_001267806,NM_001267803,NM_001267805,NM_001267804,NM_025155 PAAF1,PAAF1,PAAF1,PAAF1,PAAF1 EXON Missense_A94G,Missense_A192G,Missense_A192G,Missense_A192G,Missense_A209G exm940132 11 73620564 [A/G] NM_001267806,NM_001267803,NM_001267805,NM_001267804,NM_025155 PAAF1,PAAF1,PAAF1,PAAF1,PAAF1 EXON Missense_G103D,Missense_G201D,Missense_G201D,Missense_G201D,Missense_G218D exm940136 11 73620635 [T/C] NM_001267806,NM_001267803,NM_001267805,NM_001267804,NM_025155 PAAF1,PAAF1,PAAF1,PAAF1,PAAF1 EXON Missense_P127S,Missense_P225S,Missense_P225S,Missense_P225S,Missense_P242S exm940149 11 73630029 [T/C] NM_001267806,NM_001267803,NM_001267805,NM_001267804,NM_025155 PAAF1,PAAF1,PAAF1,PAAF1,PAAF1 EXON Missense_P209S,Missense_P307S,Missense_P307S,Missense_P307S,Missense_P324S exm940162 11 73662133 [A/T] NM_153614 DNAJB13 EXON Missense_S7T exm2271521 11 73668842 [T/C] NM_153614 DNAJB13 Silent exm940171 11 73669405 [A/G] NM_153614 DNAJB13 EXON Missense_E38K exm940179 11 73670638 [T/G] NM_153614 DNAJB13 EXON Missense_V91G exm940185 11 73675962 [T/G] NM_153614 DNAJB13 EXON Missense_F125C exm940189 11 73676004 [A/G] NM_153614 DNAJB13 EXON Missense_Q139R exm940190 11 73676009 [A/G] NM_153614 DNAJB13 EXON Missense_E141K exm940191 11 73676013 [A/G] NM_153614 DNAJB13 EXON Missense_R142Q exm940204 11 73679447 [T/C] NM_153614 DNAJB13 EXON Missense_R222C exm2274514 11 73679453 [T/C] NM_153614 DNAJB13 EXON Missense_R224C exm940205 11 73679454 [A/G] NM_153614 DNAJB13 EXON Missense_R224H exm940211 11 73680327 [A/G] NM_153614 DNAJB13 EXON Missense_D253N exm940236 11 73686548 [C/G] NM_003355 UCP2 EXON Missense_A268G exm940265 11 73689005 [T/C] NM_003355 UCP2 EXON Missense_R88H exm940267 11 73689041 [T/C] NM_003355 UCP2 EXON Missense_R76Q exm940273 11 73689099 [T/C] NM_003355 UCP2 EXON Missense_A57T exm940274 11 73689104 [A/G] NM_003355 UCP2 EXON Missense_A55V exm940279 11 73689128 [T/C] NM_003355 UCP2 EXON Missense_S47N exm940281 11 73689309 [T/C] NM_003355 UCP2 EXON Missense_V39I exm940288 11 73712464 [A/G] NM_003356 UCP3 EXON Missense_P311L exm1736357 11 73712534 [T/C] NM_003356 UCP3 EXON Missense_V288M exm1736362 11 73715014 [T/C] NM_003356,NM_022803 UCP3,UCP3 EXON Missense_G228S,Missense_G228S exm940309 11 73716829 [T/C] NM_003356,NM_022803 UCP3,UCP3 EXON Missense_M163V,Missense_M163V exm940311 11 73716888 [T/C] NM_003356,NM_022803 UCP3,UCP3 EXON Missense_R143Q,Missense_R143Q exm940312 11 73716889 [A/G] NM_003356,NM_022803 UCP3,UCP3 EXON Nonsense_R143X,Nonsense_R143X exm940318 11 73716960 [T/C] NM_003356,NM_022803 UCP3,UCP3 EXON Missense_R119Q,Missense_R119Q exm940323 11 73717219 [A/G] NM_003356,NM_022803 UCP3,UCP3 EXON Missense_A111V,Missense_A111V exm940326 11 73717247 [T/C] NM_003356,NM_022803 UCP3,UCP3 EXON Missense_V102I,Missense_V102I exm940331 11 73717267 [T/C] NM_003356,NM_022803 UCP3,UCP3 EXON Missense_R95H,Missense_R95H exm940336 11 73717340 [T/G] NM_003356,NM_022803 UCP3,UCP3 EXON Missense_T71P,Missense_T71P exm940339 11 73717370 [T/C] NM_003356,NM_022803 UCP3,UCP3 EXON Missense_V61M,Missense_V61M exm940346 11 73717396 [A/G] NM_003356,NM_022803 UCP3,UCP3 EXON Missense_T52M,Missense_T52M exm940349 11 73718000 [T/C] NM_003356,NM_022803 UCP3,UCP3 EXON Missense_V30I,Missense_V30I exm2250268 11 73718061 [T/C] NM_003356,NM_022803 UCP3,UCP3 EXON Synonymous_V9V,Synonymous_V9V exm940352 11 73718063 [T/C] NM_003356,NM_022803 UCP3,UCP3 EXON Missense_V9M,Missense_V9M exm940357 11 73745655 [T/C] NM_015531 C2CD3 Silent exm940363 11 73748676 [G/C] NM_015531 C2CD3 EXON Missense_P1910A exm940364 11 73748678 [A/G] NM_015531 C2CD3 EXON Missense_L1909P exm940369 11 73753106 [A/G] NM_015531 C2CD3 EXON Missense_S1885P exm940373 11 73753157 [T/C] NM_015531 C2CD3 EXON Missense_D1868N exm940376 11 73753253 [T/C] NM_015531 C2CD3 EXON Missense_T1836A exm940379 11 73759251 [T/C] NM_015531 C2CD3 EXON Missense_R1832G exm1736407 11 73759254 [A/C] NM_015531 C2CD3 EXON Missense_G1831W exm940380 11 73759262 [G/C] NM_015531 C2CD3 EXON Missense_S1828C exm940381 11 73759341 [A/G] NM_015531 C2CD3 EXON Missense_Y1802H exm940385 11 73760399 [T/C] NM_015531 C2CD3 EXON Missense_E1782K exm940387 11 73760413 [T/G] NM_015531 C2CD3 EXON Missense_A1777E exm940393 11 73760510 [A/C] NM_015531 C2CD3 EXON Missense_Y1745D exm940396 11 73768459 [A/C] NM_015531 C2CD3 EXON Missense_Q1694H exm940397 11 73768488 [T/C] NM_015531 C2CD3 EXON Missense_T1685A exm940399 11 73768527 [T/C] NM_015531 C2CD3 EXON Missense_D1672N exm940401 11 73768553 [T/C] NM_015531 C2CD3 EXON Missense_S1663N exm-rs4453265 11 73785326 [T/C] NM_015531 C2CD3 EXON Synonymous_V1641V exm-IND11-73463127 11 73785480 [I/D] NM_015531 C2CD3 EXON exm940433 11 73789633 [T/C] NM_015531 C2CD3 EXON Missense_R1377Q exm940436 11 73789666 [A/G] NM_015531 C2CD3 EXON Missense_S1366L exm940446 11 73789726 [T/G] NM_015531 C2CD3 EXON Missense_D1346A exm940447 11 73789732 [A/G] NM_015531 C2CD3 EXON Missense_P1344L exm940451 11 73795965 [T/C] NM_015531 C2CD3 EXON Missense_V1321I exm940454 11 73796017 [T/A] NM_015531 C2CD3 Silent exm940455 11 73796683 [T/C] NM_015531 C2CD3 EXON Missense_Y1297C exm940464 11 73796831 [A/G] NM_015531 C2CD3 EXON Missense_R1248C exm940465 11 73796832 [G/C] NM_015531 C2CD3 EXON Missense_Q1247H exm940466 11 73796878 [T/C] NM_015531 C2CD3 EXON Missense_N1232S exm940467 11 73796879 [T/C] NM_015531 C2CD3 EXON Missense_N1232D exm940469 11 73796887 [A/C] NM_015531 C2CD3 EXON Missense_V1229G exm940470 11 73796902 [T/C] NM_015531 C2CD3 EXON Missense_Q1224R exm940471 11 73796917 [T/C] NM_015531 C2CD3 EXON Missense_R1219Q exm940472 11 73796923 [C/G] NM_015531 C2CD3 EXON Missense_A1217G exm940477 11 73803467 [A/T] NM_015531 C2CD3 EXON Missense_S1171T exm940484 11 73803633 [T/C] NM_015531 C2CD3 EXON Synonymous_R1115R exm940486 11 73804873 [T/G] NM_015531 C2CD3 EXON Missense_E1111A exm940488 11 73804898 [T/C] NM_015531 C2CD3 EXON Missense_V1103M exm2250270 11 73804953 [T/C] NM_015531 C2CD3 EXON Synonymous_P1084P exm940492 11 73806285 [A/G] NM_015531 C2CD3 EXON Missense_F1050L exm940493 11 73806291 [G/C] NM_015531 C2CD3 EXON Missense_P1048A exm940496 11 73806336 [A/G] NM_015531 C2CD3 EXON Missense_Y1033H exm940499 11 73806443 [T/C] NM_015531 C2CD3 EXON Missense_R997Q exm940510 11 73811639 [T/C] NM_015531 C2CD3 EXON Missense_R888Q exm940511 11 73811643 [T/C] NM_015531 C2CD3 EXON Missense_V887M exm1736493 11 73811708 [C/G] NM_015531 C2CD3 EXON Missense_S865C exm940517 11 73814255 [T/C] NM_015531 C2CD3 EXON Missense_C834Y exm1736501 11 73814396 [A/G] NM_015531 C2CD3 EXON Missense_S787F exm940523 11 73814397 [A/T] NM_015531 C2CD3 EXON Missense_S787T exm940525 11 73814412 [T/C] NM_015531 C2CD3 EXON Missense_V782I exm940527 11 73814438 [C/G] NM_015531 C2CD3 EXON Missense_P773R exm940536 11 73817504 [T/C] NM_015531 C2CD3 EXON Missense_R666Q exm940549 11 73824854 [T/C] NM_015531 C2CD3 EXON Missense_R605Q exm940554 11 73824936 [A/T] NM_015531 C2CD3 EXON Missense_T578S exm1736519 11 73825575 [T/A] NM_015531 C2CD3 EXON Missense_S528R exm940564 11 73829379 [T/C] NM_015531 C2CD3 EXON Missense_V472I exm940568 11 73834049 [A/G] NM_015531 C2CD3 EXON Missense_L450S exm940569 11 73834054 [A/C] NM_015531 C2CD3 EXON Missense_E448D exm940570 11 73834139 [A/G] NM_015531 C2CD3 EXON Missense_S420F exm940572 11 73834164 [T/C] NM_015531 C2CD3 EXON Missense_G412S exm940574 11 73843937 [T/C] NM_015531 C2CD3 EXON Missense_R390K exm940584 11 73844600 [C/G] NM_015531 C2CD3 EXON Missense_L320V exm940591 11 73849888 [A/G] NM_015531 C2CD3 EXON Missense_R278W exm940596 11 73850002 [C/G] NM_015531 C2CD3 EXON Missense_H240D exm940599 11 73850653 [A/G] NM_015531 C2CD3 EXON Missense_P235L exm2250273 11 73850673 [A/G] NM_015531 C2CD3 EXON Synonymous_N228N exm940604 11 73850719 [T/C] NM_015531 C2CD3 EXON Missense_R213H exm940608 11 73850837 [T/C] NM_015531 C2CD3 EXON Missense_D174N exm940615 11 73872592 [A/C] NM_015531 C2CD3 EXON Missense_V112G exm940618 11 73879506 [A/C] NM_015531 C2CD3 EXON Missense_S70A exm1736578 11 73879583 [T/G] NM_015531 C2CD3 EXON Missense_T44N exm940629 11 73882524 [T/C] NM_016147,NM_001271593 PPME1,PPME1 EXON Missense_P20S,Missense_P20S exm2219440 11 73882555 [A/G] NM_016147,NM_001271593 PPME1,PPME1 EXON Missense_K30R,Missense_K30R exm940642 11 73914786 [T/C] NM_016147,NM_001271593 PPME1,PPME1 EXON Missense_R39W,Missense_R39W exm2250274 11 73915481 [T/C] NM_016147,NM_001271593 PPME1,PPME1 EXON Synonymous_A93A,Synonymous_A93A exm940662 11 73950270 [T/C] NM_016147,NM_001271593 PPME1,PPME1 EXON Missense_I268T,Missense_I268T exm940674 11 73964538 [A/G] NM_016147,NM_001271593 PPME1,PPME1 EXON Missense_V382M,Missense_V396M exm940679 11 73978324 [T/C] NM_182904 P4HA3 EXON Missense_R535H exm940688 11 73979241 [C/G] NM_182904 P4HA3 EXON Missense_D505H exm940689 11 73980705 [T/C] NM_182904 P4HA3 EXON Missense_V487M exm940694 11 73988030 [T/C] NM_182904 P4HA3 EXON Synonymous_T445T exm940695 11 73988031 [A/G] NM_182904 P4HA3 EXON Missense_T445M exm940697 11 73988065 [T/C] NM_182904 P4HA3 EXON Missense_G434R exm940698 11 73988110 [A/G] NM_182904 P4HA3 EXON Missense_R419W exm940699 11 73988112 [A/G] NM_182904 P4HA3 EXON Missense_V418A exm940702 11 73988167 [T/C] NM_182904 P4HA3 EXON Missense_D400N exm940706 11 73990445 [T/C] NM_182904 P4HA3 EXON Missense_R388H exm940709 11 73990475 [A/G] NM_182904 P4HA3 EXON Missense_S378L exm940710 11 73990497 [A/G] NM_182904 P4HA3 EXON Synonymous_L371L exm940715 11 73996952 [A/G] NM_182904 P4HA3 EXON Missense_R338W exm940719 11 73997030 [A/G] NM_182904 P4HA3 EXON Missense_P312S exm940723 11 73997310 [T/C] NM_182904 P4HA3 EXON Missense_D299G exm940739 11 74013418 [T/C] NM_182904 P4HA3 EXON Missense_G188D exm940751 11 74015381 [T/C] NM_182904 P4HA3 EXON Missense_I93V exm940753 11 74015452 [T/C] NM_182904 P4HA3 EXON Missense_Y69C exm940765 11 74047743 [A/T] NM_173582 PGM2L1 EXON Missense_N608I exm940773 11 74053547 [T/C] NM_173582 PGM2L1 EXON Missense_V531I exm940774 11 74053552 [T/C] NM_173582 PGM2L1 EXON Missense_R529Q exm940776 11 74053573 [A/G] NM_173582 PGM2L1 EXON Missense_T522I exm940779 11 74053623 [T/G] NM_173582 PGM2L1 EXON Missense_E505D exm940804 11 74062500 [A/G] NM_173582 PGM2L1 EXON Missense_P226L exm940813 11 74081978 [A/T] NM_173582 PGM2L1 EXON Missense_L147H exm940820 11 74082786 [A/C] NM_173582 PGM2L1 EXON Missense_G119V exm940826 11 74109166 [A/G] NM_173582 PGM2L1 EXON Missense_L14P exm940832 11 74168313 [T/C] NM_005472 KCNE3 EXON Missense_R99H exm940835 11 74168361 [T/C] NM_005472 KCNE3 EXON Missense_R83H exm940846 11 74168583 [A/G] NM_005472 KCNE3 EXON Missense_T9I exm940849 11 74203256 [A/T] NM_001144869 LIPT2 EXON Missense_E207V exm940850 11 74203308 [A/T] NM_001144869 LIPT2 EXON Missense_T190S exm940901 11 74329638 [T/C] NR_046409,NM_006591,NR_046410 POLD3,POLD3,POLD3 EXON Silent,Missense_S150L,Silent exm940905 11 74329833 [G/C] NR_046409,NM_006591,NR_046410 POLD3,POLD3,POLD3 EXON Silent,Missense_A215G,Silent exm940906 11 74329841 [A/G] NR_046409,NM_006591,NR_046410 POLD3,POLD3,POLD3 EXON Silent,Missense_V218I,Silent exm940919 11 74340294 [T/C] NR_046409,NM_006591,NR_046410 POLD3,POLD3,POLD3 EXON Silent,Missense_T311I,Silent exm940920 11 74340318 [A/G] NR_046409,NM_006591,NR_046410 POLD3,POLD3,POLD3 EXON Silent,Missense_K319R,Silent exm940928 11 74345735 [A/G] NR_046409,NM_006591,NR_046410 POLD3,POLD3,POLD3 EXON Silent,Missense_V372I,Silent exm940929 11 74345739 [A/C] NR_046409,NM_006591,NR_046410 POLD3,POLD3,POLD3 EXON Silent,Missense_K373T,Silent exm940939 11 74351626 [A/G] NR_046409,NM_006591,NR_046410 POLD3,POLD3,POLD3 EXON Silent,Missense_E406K,Silent exm2271522 11 74401763 [T/C] exm940947 11 74407584 [T/C] NM_015424 CHRDL2 EXON Missense_G439S exm940956 11 74408274 [A/G] NM_015424 CHRDL2 EXON Missense_P415L exm940972 11 74413955 [A/G] NM_015424 CHRDL2 EXON Missense_P335L exm940983 11 74414424 [T/C] NM_015424 CHRDL2 EXON Missense_R291H exm941001 11 74415554 [A/G] NM_015424 CHRDL2 EXON Missense_V243A exm941004 11 74415606 [T/C] NM_015424 CHRDL2 EXON Missense_I226V exm941025 11 74421894 [T/C] NM_015424 CHRDL2 EXON Synonymous_T144T exm941031 11 74424490 [A/G] NM_015424 CHRDL2 EXON Missense_P77L exm941033 11 74424521 [T/C] NM_015424 CHRDL2 EXON Missense_A67T exm941041 11 74441875 [A/G] NM_015424 CHRDL2 EXON Missense_P20L exm941044 11 74441891 [T/C] NM_015424 CHRDL2 EXON Missense_A15T exm941045 11 74459939 [A/G] NM_001098638 RNF169 EXON Missense_G5D exm941049 11 74460046 [T/C] NM_001098638 RNF169 EXON Missense_P41S exm941053 11 74460425 [T/C] NM_001098638 RNF169 EXON Missense_P167L exm941057 11 74500707 [G/C] NM_001098638 RNF169 EXON Missense_P180R exm941058 11 74500718 [T/C] NM_001098638 RNF169 EXON Missense_R184C exm941072 11 74545797 [A/G] NM_001098638 RNF169 EXON Missense_A307T exm941077 11 74546669 [A/C] NM_001098638 RNF169 EXON Missense_P341T exm941078 11 74546682 [T/C] NM_001098638 RNF169 EXON Missense_I345T exm941105 11 74547498 [T/C] NM_001098638 RNF169 EXON Missense_S617F exm941133 11 74554472 [A/G] NM_001270381,NM_001270380,NM_182969 XRRA1,XRRA1,XRRA1 EXON Missense_R443W,Synonymous_N595N,Missense_R718W exm941134 11 74554495 [A/G] NM_001270381,NM_001270380,NM_182969 XRRA1,XRRA1,XRRA1 EXON Missense_A435V,Synonymous_L588L,Missense_A710V exm941139 11 74555004 [T/C] NM_001270381,NM_001270380,NM_182969 XRRA1,XRRA1,XRRA1 EXON Missense_A399T,Silent,Missense_A674T exm941144 11 74555299 [C/G] NM_001270381,NM_001270380,NM_182969 XRRA1,XRRA1,XRRA1 EXON Missense_Q370E,Missense_Q558E,Missense_Q645E exm941145 11 74556124 [C/G] NM_001270381,NM_001270380,NM_182969 XRRA1,XRRA1,XRRA1 EXON Missense_P358A,Missense_P546A,Missense_P633A exm941146 11 74556129 [A/G] NM_001270381,NM_001270380,NM_182969 XRRA1,XRRA1,XRRA1 EXON Missense_I356T,Missense_I544T,Missense_I631T exm941150 11 74556258 [T/G] NM_001270381,NM_001270380,NM_182969 XRRA1,XRRA1,XRRA1 EXON Missense_D313A,Missense_D501A,Missense_D588A exm941151 11 74559209 [T/C] NM_001270381,NM_001270380,NM_182969 XRRA1,XRRA1,XRRA1 EXON Missense_R277H,Missense_R465H,Missense_R552H exm941153 11 74559224 [T/C] NM_001270381,NM_001270380,NM_182969 XRRA1,XRRA1,XRRA1 EXON Missense_R272H,Missense_R460H,Missense_R547H exm941154 11 74559228 [T/C] NM_001270381,NM_001270380,NM_182969 XRRA1,XRRA1,XRRA1 EXON Missense_V271I,Missense_V459I,Missense_V546I exm941158 11 74559303 [T/C] NM_001270381,NM_001270380,NM_182969 XRRA1,XRRA1,XRRA1 EXON Missense_V246M,Missense_V434M,Missense_V521M exm941161 11 74559313 [G/C] NM_001270381,NM_001270380,NM_182969 XRRA1,XRRA1,XRRA1 EXON Missense_C242W,Missense_C430W,Missense_C517W exm941166 11 74559419 [A/G] NM_001270381,NM_001270380,NM_182969 XRRA1,XRRA1,XRRA1 EXON Missense_M207T,Missense_M395T,Missense_M482T exm941167 11 74559426 [T/C] NM_001270381,NM_001270380,NM_182969 XRRA1,XRRA1,XRRA1 EXON Missense_K205E,Missense_K393E,Missense_K480E exm941169 11 74559446 [G/C] NM_001270381,NM_001270380,NM_182969 XRRA1,XRRA1,XRRA1 EXON Missense_T198R,Missense_T386R,Missense_T473R exm941170 11 74559452 [T/C] NM_001270381,NM_001270380,NM_182969 XRRA1,XRRA1,XRRA1 EXON Missense_R196H,Missense_R384H,Missense_R471H exm941174 11 74559482 [A/G] NM_001270381,NM_001270380,NM_182969 XRRA1,XRRA1,XRRA1 EXON Missense_P186L,Missense_P374L,Missense_P461L exm941175 11 74559501 [T/C] NM_001270381,NM_001270380,NM_182969 XRRA1,XRRA1,XRRA1 EXON Missense_S180G,Missense_S368G,Missense_S455G exm941176 11 74562138 [A/G] NM_001270381,NM_001270380,NM_182969 XRRA1,XRRA1,XRRA1 EXON Missense_W176R,Missense_W364R,Missense_W451R exm941181 11 74563037 [A/G] NM_001270381,NM_001270380,NM_182969 XRRA1,XRRA1,XRRA1 EXON Nonsense_R138X,Silent,Nonsense_R413X exm941193 11 74570320 [C/G] NM_001270381,NM_001270380,NM_182969 XRRA1,XRRA1,XRRA1 EXON Silent,Silent,Missense_K343N exm941198 11 74617443 [T/C] NM_001270381,NM_001270380,NM_182969 XRRA1,XRRA1,XRRA1 EXON Missense_V41I,Missense_V274I,Missense_V274I exm941205 11 74618301 [A/G] NM_001270381,NM_001270380,NM_182969 XRRA1,XRRA1,XRRA1 EXON Silent,Missense_S217L,Missense_S217L exm941209 11 74632269 [T/C] NM_001270381,NM_001270380,NM_182969 XRRA1,XRRA1,XRRA1 EXON Silent,Missense_V208I,Missense_V208I exm941215 11 74638474 [T/C] NM_001270381,NM_001270380,NM_182969 XRRA1,XRRA1,XRRA1 EXON Silent,Missense_T154A,Missense_T154A exm941216 11 74638486 [T/C] NM_001270381,NM_001270380,NM_182969 XRRA1,XRRA1,XRRA1 EXON Silent,Missense_N150D,Missense_N150D exm941224 11 74648036 [T/G] NM_001270381,NM_001270380,NM_182969 XRRA1,XRRA1,XRRA1 EXON Silent,Missense_R58S,Missense_R58S exm941230 11 74651915 [T/G] NM_001270381,NM_001270380,NM_182969 XRRA1,XRRA1,XRRA1 EXON Silent,Missense_F3L,Missense_F3L exm2219453 11 74660292 [A/G] NM_014752 SPCS2 EXON Silent exm2219454 11 74676818 [A/G] NM_014752 SPCS2 EXON Missense_E70G exm941243 11 74705572 [A/C] NM_006656 NEU3 EXON Missense_T38K exm941244 11 74705602 [A/G] NM_006656 NEU3 EXON Missense_R48Q exm941255 11 74716503 [T/C] NM_006656 NEU3 EXON Missense_R118W exm941256 11 74716504 [A/G] NM_006656 NEU3 EXON Missense_R118Q exm941258 11 74716515 [T/C] NM_006656 NEU3 EXON Missense_P122S exm941264 11 74716589 [C/G] NM_006656 NEU3 EXON Missense_E146D exm2276198 11 74716590 [G/C] NM_006656 NEU3 EXON Missense_R147G exm941269 11 74716666 [T/G] NM_006656 NEU3 EXON Missense_S172I exm1736977 11 74716737 [G/C] NM_006656 NEU3 EXON Missense_P196A exm941273 11 74716815 [T/G] NM_006656 NEU3 EXON Missense_C222G exm1736980 11 74716935 [A/G] NM_006656 NEU3 EXON Missense_A262T exm1736981 11 74717002 [A/G] NM_006656 NEU3 EXON Missense_R284Q exm941287 11 74717217 [A/C] NM_006656 NEU3 EXON Missense_T356P exm941288 11 74717221 [T/C] NM_006656 NEU3 EXON Missense_P357L exm941294 11 74717433 [A/G] NM_006656 NEU3 EXON Missense_E428K exm941300 11 74717537 [A/T] NM_006656 NEU3 EXON Missense_X462Y exm941305 11 74799872 [A/G] NM_001005285 OR2AT4 EXON Missense_T296M exm1736996 11 74799966 [T/C] NM_001005285 OR2AT4 EXON Missense_V265M exm941312 11 74800034 [G/C] NM_001005285 OR2AT4 EXON Missense_A242G exm941313 11 74800044 [A/G] NM_001005285 OR2AT4 EXON Missense_R239W exm941320 11 74800181 [A/G] NM_001005285 OR2AT4 EXON Missense_S193F exm941321 11 74800182 [A/G] NM_001005285 OR2AT4 EXON Missense_S193P exm941325 11 74800358 [A/G] NM_001005285 OR2AT4 EXON Missense_P134L exm941327 11 74800380 [A/G] NM_001005285 OR2AT4 EXON Missense_R127C exm941329 11 74800417 [A/C] NM_001005285 OR2AT4 EXON Missense_C114W exm941330 11 74800437 [T/G] NM_001005285 OR2AT4 EXON Missense_L108I exm941332 11 74800475 [T/C] NM_001005285 OR2AT4 EXON Missense_R95H exm941340 11 74800716 [T/C] NM_001005285 OR2AT4 EXON Missense_V15I exm2267276 11 74829787 [A/G] exm941361 11 74873726 [T/C] NM_007256,NM_001145212,NM_001145211 SLCO2B1,SLCO2B1,SLCO2B1 EXON Missense_P15S,Silent,Silent exm941377 11 74876878 [A/G] NM_007256,NM_001145212,NM_001145211 SLCO2B1,SLCO2B1,SLCO2B1 EXON Missense_R111Q,Silent,Missense_R89Q exm941379 11 74876889 [T/C] NM_007256,NM_001145212,NM_001145211 SLCO2B1,SLCO2B1,SLCO2B1 EXON Missense_P115S,Silent,Missense_P93S exm2219457 11 74880266 [T/C] NM_007256,NM_001145212,NM_001145211 SLCO2B1,SLCO2B1,SLCO2B1 EXON Missense_S166L,Missense_S22L,Missense_S144L exm941400 11 74880370 [A/G] NM_007256,NM_001145212,NM_001145211 SLCO2B1,SLCO2B1,SLCO2B1 EXON Missense_V201M,Missense_V57M,Missense_V179M exm941408 11 74880746 [G/C] NM_007256,NM_001145212,NM_001145211 SLCO2B1,SLCO2B1,SLCO2B1 EXON Missense_L240V,Missense_L96V,Missense_L218V exm941417 11 74883495 [A/G] NM_007256,NM_001145212,NM_001145211 SLCO2B1,SLCO2B1,SLCO2B1 EXON Missense_G285S,Missense_G141S,Missense_G263S exm941420 11 74883559 [A/G] NM_007256,NM_001145212,NM_001145211 SLCO2B1,SLCO2B1,SLCO2B1 EXON Missense_R306H,Missense_R162H,Missense_R284H exm941422 11 74883577 [A/G] NM_007256,NM_001145212,NM_001145211 SLCO2B1,SLCO2B1,SLCO2B1 EXON Missense_R312Q,Missense_R168Q,Missense_R290Q exm941424 11 74883614 [A/G] NM_007256,NM_001145212,NM_001145211 SLCO2B1,SLCO2B1,SLCO2B1 EXON Synonymous_K324K,Synonymous_K180K,Synonymous_K302K exm941425 11 74899221 [T/C] NM_007256,NM_001145212,NM_001145211 SLCO2B1,SLCO2B1,SLCO2B1 EXON Missense_T338M,Missense_T194M,Missense_T316M exm941436 11 74904362 [T/C] NM_007256,NM_001145212,NM_001145211 SLCO2B1,SLCO2B1,SLCO2B1 EXON Missense_I392T,Missense_I248T,Missense_I370T exm941451 11 74904599 [T/C] NM_007256,NM_001145212,NM_001145211 SLCO2B1,SLCO2B1,SLCO2B1 EXON Missense_A471V,Missense_A327V,Missense_A449V exm941454 11 74907582 [T/C] NM_007256,NM_001145212,NM_001145211 SLCO2B1,SLCO2B1,SLCO2B1 EXON Missense_S486F,Missense_S342F,Missense_S464F exm941458 11 74907651 [A/G] NM_007256,NM_001145212,NM_001145211 SLCO2B1,SLCO2B1,SLCO2B1 EXON Missense_R509H,Missense_R365H,Missense_R487H exm941466 11 74911307 [A/C] NM_007256,NM_001145212,NM_001145211 SLCO2B1,SLCO2B1,SLCO2B1 EXON Missense_N546K,Missense_N402K,Missense_N524K exm941469 11 74911311 [A/G] NM_007256,NM_001145212,NM_001145211 SLCO2B1,SLCO2B1,SLCO2B1 EXON Missense_V548M,Missense_V404M,Missense_V526M exm941497 11 74915566 [A/G] NM_007256,NM_001145212,NM_001145211 SLCO2B1,SLCO2B1,SLCO2B1 EXON Missense_V691I,Missense_V547I,Missense_V669I exm941498 11 74915572 [G/C] NM_007256,NM_001145212,NM_001145211 SLCO2B1,SLCO2B1,SLCO2B1 EXON Missense_Q693E,Missense_Q549E,Missense_Q671E exm941508 11 74977233 [T/C] NM_020251,NM_004041 ARRB1,ARRB1 EXON Missense_G403S,Missense_G411S exm941510 11 74977269 [T/C] NM_020251,NM_004041 ARRB1,ARRB1 EXON Missense_M391V,Missense_M399V exm941517 11 74978732 [A/G] NM_020251,NM_004041 ARRB1,ARRB1 EXON Missense_T362M,Missense_T370M exm941530 11 74985208 [A/G] NM_020251,NM_004041 ARRB1,ARRB1 EXON Missense_T275I,Missense_T275I exm941539 11 74988431 [A/G] NM_020251,NM_004041 ARRB1,ARRB1 EXON Missense_T227M,Missense_T227M exm941548 11 74989777 [T/C] NM_020251,NM_004041 ARRB1,ARRB1 EXON Missense_R165H,Missense_R165H exm2219458 11 74992129 [T/C] NM_020251,NM_004041 ARRB1,ARRB1 EXON Missense_I158V,Missense_I158V exm941551 11 74992149 [A/G] NM_020251,NM_004041 ARRB1,ARRB1 EXON Missense_A151V,Missense_A151V exm941567 11 74994458 [T/C] NM_020251,NM_004041 ARRB1,ARRB1 EXON Missense_R76H,Missense_R76H exm941573 11 74995284 [T/C] NM_020251,NM_004041 ARRB1,ARRB1 EXON Missense_R51Q,Missense_R51Q exm941582 11 75001070 [A/C] NM_020251,NM_004041 ARRB1,ARRB1 EXON Missense_A12S,Missense_A12S exm941634 11 75115893 [A/C] NM_001260507,NM_001260506,NM_001256802,NM_001005 RPS3,RPS3,RPS3,RPS3 EXON Missense_P113Q,Missense_P255Q,Missense_P239Q,Missense_P239Q exm941637 11 75133703 [T/C] NM_001039548 KLHL35 EXON Missense_Q558R exm941641 11 75133761 [A/G] NM_001039548 KLHL35 EXON Missense_R539W exm2250283 11 75133765 [A/G] NM_001039548 KLHL35 EXON Synonymous_G537G exm941645 11 75133796 [C/G] NM_001039548 KLHL35 EXON Missense_T527S exm941646 11 75134735 [C/G] NM_001039548 KLHL35 Silent exm1737236 11 75134852 [C/G] NM_001039548 KLHL35 EXON Missense_E483Q exm941656 11 75134906 [T/C] NM_001039548 KLHL35 EXON Missense_K465E exm941668 11 75136602 [T/C] NM_001039548 KLHL35 EXON Missense_G404S exm941674 11 75139511 [A/G] NM_001039548 KLHL35 EXON Missense_L348F exm941701 11 75148014 [T/C] NM_030792 GDPD5 EXON Missense_V546I exm941703 11 75148019 [T/C] NM_030792 GDPD5 EXON Missense_R544Q exm941704 11 75148020 [A/G] NM_030792 GDPD5 EXON Missense_R544W exm941706 11 75148031 [T/C] NM_030792 GDPD5 EXON Missense_R540H exm941717 11 75150970 [T/C] NM_030792 GDPD5 EXON Missense_D504N exm941722 11 75151005 [A/G] NM_030792 GDPD5 EXON Missense_P492L exm941726 11 75152243 [T/C] NM_030792 GDPD5 EXON Missense_A480T exm2219461 11 75152281 [T/C] NM_030792 GDPD5 EXON Missense_C467Y exm941740 11 75152761 [T/C] NM_030792 GDPD5 EXON Missense_A419T exm941750 11 75153469 [T/C] NM_030792 GDPD5 EXON Missense_R369H exm941751 11 75153470 [A/G] NM_030792 GDPD5 EXON Missense_R369C exm941759 11 75154251 [A/G] NM_030792 GDPD5 EXON Missense_A293V exm941767 11 75155503 [A/G] NM_030792 GDPD5 EXON Missense_A251V exm941800 11 75168818 [A/G] NM_030792 GDPD5 EXON Missense_R79C exm941804 11 75173888 [A/G] NM_030792 GDPD5 EXON Missense_T55M exm941806 11 75188665 [A/G] NM_030792 GDPD5 EXON Missense_P39L exm-rs688727 11 75255710 [A/C] exm941820 11 75277491 [C/G] NM_001235,NM_001207014 SERPINH1,SERPINH1 EXON Missense_A33P,Missense_A33P exm941832 11 75277740 [A/C] NM_001235,NM_001207014 SERPINH1,SERPINH1 EXON Missense_R116S,Missense_R116S exm941836 11 75277875 [A/C] NM_001235,NM_001207014 SERPINH1,SERPINH1 EXON Missense_I161L,Missense_I161L exm941840 11 75277959 [A/G] NM_001235,NM_001207014 SERPINH1,SERPINH1 EXON Missense_T189A,Missense_T189A exm941842 11 75277974 [A/C] NM_001235,NM_001207014 SERPINH1,SERPINH1 EXON Missense_R194S,Missense_R194S exm-rs634552 11 75282052 [T/G] NM_001235,NM_001207014 SERPINH1,SERPINH1 Silent,Silent exm941859 11 75282839 [A/G] NM_001235,NM_001207014 SERPINH1,SERPINH1 EXON Missense_G323E,Missense_G323E exm941873 11 75283090 [G/C] NM_001235,NM_001207014 SERPINH1,SERPINH1 EXON Missense_V407L,Missense_V407L exm941886 11 75298327 [T/C] NM_033063 MAP6 EXON Missense_R740H exm941891 11 75298468 [A/C] NM_033063 MAP6 EXON Missense_V693G exm941896 11 75298606 [A/G] NM_033063 MAP6 EXON Missense_P647L exm941898 11 75298621 [A/G] NM_033063 MAP6 EXON Missense_M642T exm2219470 11 75298640 [T/C] NM_033063 MAP6 EXON Missense_I636V exm941900 11 75298699 [T/C] NM_033063 MAP6 EXON Missense_G616D exm2219471 11 75298715 [A/G] NM_033063 MAP6 EXON Missense_P611S exm941917 11 75298917 [A/C] NM_033063 MAP6 EXON Missense_M543I exm941918 11 75298919 [T/C] NM_033063 MAP6 EXON Missense_M543V exm941926 11 75316901 [T/C] NM_033063,NM_207577 MAP6,MAP6 EXON Missense_D423G,Missense_D423G exm941927 11 75316902 [T/C] NM_033063,NM_207577 MAP6,MAP6 EXON Missense_D423N,Missense_D423N exm941933 11 75316931 [A/G] NM_033063,NM_207577 MAP6,MAP6 EXON Missense_A413V,Missense_A413V exm941937 11 75316980 [A/C] NM_033063,NM_207577 MAP6,MAP6 EXON Missense_A397S,Missense_A397S exm941941 11 75319177 [T/C] NM_033063,NM_207577 MAP6,MAP6 EXON Missense_E366K,Missense_E366K exm941945 11 75319218 [T/C] NM_033063,NM_207577 MAP6,MAP6 EXON Missense_N352S,Missense_N352S exm2250288 11 75390240 [A/G] exm941970 11 75428947 [T/C] NM_025098 MOGAT2 EXON Missense_A5V exm941972 11 75428958 [A/G] NM_025098 MOGAT2 EXON Missense_M9V exm941974 11 75428971 [A/G] NM_025098 MOGAT2 EXON Missense_R13H exm941988 11 75431214 [T/C] NM_025098 MOGAT2 EXON Missense_S90L exm941989 11 75431215 [A/G] NM_025098 MOGAT2 EXON Synonymous_S90S exm941991 11 75438490 [A/C] NM_025098 MOGAT2 EXON Missense_T94N exm941997 11 75438570 [A/C] NM_025098 MOGAT2 EXON Missense_L121M exm942000 11 75438615 [T/C] NM_025098 MOGAT2 EXON Missense_R136C exm942008 11 75439021 [T/C] NM_025098 MOGAT2 EXON Missense_V161A exm942012 11 75439126 [A/C] NM_025098 MOGAT2 EXON Missense_P196H exm942016 11 75439167 [A/G] NM_025098 MOGAT2 EXON Missense_V210I exm2250289 11 75439175 [T/C] NM_025098 MOGAT2 EXON Synonymous_L212L exm942022 11 75439894 [A/G] NM_025098 MOGAT2 EXON Missense_N237S exm942031 11 75442204 [T/C] NM_025098 MOGAT2 EXON Missense_T293M exm942036 11 75442264 [A/G] NM_025098 MOGAT2 EXON Missense_C313Y exm942038 11 75442278 [A/G] NM_025098 MOGAT2 EXON Missense_A318T exm-rs499974 11 75455021 [A/C] exm942067 11 75507508 [T/C] NM_032564,NM_001253891 DGAT2,DGAT2 EXON Missense_R189W,Missense_R146W exm942078 11 75508317 [A/G] NM_032564,NM_001253891 DGAT2,DGAT2 EXON Missense_G250D,Missense_G207D exm942081 11 75509317 [A/C] NM_032564,NM_001253891 DGAT2,DGAT2 EXON Nonsense_Y285X,Nonsense_Y242X exm942083 11 75509352 [A/G] NM_032564,NM_001253891 DGAT2,DGAT2 EXON Missense_R297Q,Missense_R254Q exm942085 11 75509414 [A/G] NM_032564,NM_001253891 DGAT2,DGAT2 EXON Missense_G318S,Missense_G275S exm942088 11 75511420 [T/C] NM_032564,NM_001253891 DGAT2,DGAT2 EXON Missense_P345L,Missense_P302L exm942090 11 75511469 [A/G] NM_032564,NM_001253891 DGAT2,DGAT2 EXON Missense_M361I,Missense_M318I exm942101 11 75563021 [T/C] NM_003369 UVRAG EXON Missense_C71R exm1737478 11 75572808 [A/G] NM_003369 UVRAG EXON Missense_V85M exm942119 11 75672550 [A/G] NM_003369 UVRAG EXON Missense_E219G exm942120 11 75694476 [A/G] NM_003369 UVRAG EXON Missense_N249D exm942121 11 75694488 [T/C] NM_003369 UVRAG EXON Missense_R253W exm942122 11 75694530 [A/G] NM_003369 UVRAG EXON Missense_K267E exm942123 11 75694549 [A/C] NM_003369 UVRAG EXON Missense_Q273P exm942134 11 75719872 [A/G] NM_003369 UVRAG EXON Missense_V341I exm2271624 11 75756145 [T/C] NM_003369 UVRAG Silent exm942147 11 75851814 [T/G] NM_003369 UVRAG EXON Missense_G486V exm942170 11 75852182 [A/G] NM_003369 UVRAG EXON Missense_A609T exm942172 11 75852203 [A/G] NM_003369 UVRAG EXON Missense_E616K exm942175 11 75852279 [T/C] NM_003369 UVRAG EXON Missense_T641I exm942190 11 75898145 [A/C] NM_004626 WNT11 EXON Missense_R343S exm942205 11 75902734 [T/C] NM_004626 WNT11 EXON Missense_R255H exm942240 11 75907602 [A/G] NM_004626 WNT11 EXON Missense_R82W exm942244 11 75907648 [T/C] NM_004626 WNT11 EXON Missense_M66I exm942248 11 75907667 [A/C] NM_004626 WNT11 EXON Missense_R60L exm-rs4944092 11 75909619 [A/G] NM_004626 WNT11 Silent exm-rs11236683 11 75996547 [A/G] exm2271524 11 76026791 [T/C] exm942315 11 76063824 [G/C] NM_004705 PRKRIR EXON Missense_E124Q exm942325 11 76072076 [A/G] NM_004705 PRKRIR EXON Missense_A81V exm942327 11 76072085 [T/C] NM_004705 PRKRIR EXON Missense_R78Q exm942345 11 76164411 [A/G] NM_020193 C11orf30 EXON Missense_R75Q exm942353 11 76171043 [A/G] NM_020193 C11orf30 EXON Missense_S162N exm942363 11 76175057 [T/A] NM_020193 C11orf30 EXON Missense_H255L exm1737695 11 76183722 [A/G] NM_020193 C11orf30 EXON Missense_T316A exm942383 11 76207465 [T/C] NM_020193 C11orf30 EXON Missense_P439S exm942392 11 76224546 [A/G] NM_020193 C11orf30 EXON Missense_I494V exm942411 11 76246974 [A/C] NM_020193 C11orf30 EXON Missense_R744S exm942429 11 76253389 [G/C] NM_020193 C11orf30 EXON Missense_A896G exm942431 11 76255312 [A/G] NM_020193 C11orf30 EXON Missense_S907G exm942436 11 76255454 [T/G] NM_020193 C11orf30 EXON Missense_L954R exm942455 11 76255843 [T/C] NM_020193 C11orf30 EXON Missense_S1084P exm942457 11 76257012 [A/G] NM_020193 C11orf30 EXON Missense_I1149V exm942460 11 76257186 [T/C] NM_020193 C11orf30 EXON Missense_C1207R exm942461 11 76257187 [A/G] NM_020193 C11orf30 EXON Missense_C1207Y exm942471 11 76257319 [T/G] NM_020193 C11orf30 EXON Missense_S1251I exm-rs2155219 11 76299194 [T/G] exm-rs7927997 11 76301375 [T/C] exm942482 11 76370661 [T/G] NM_001128922,NM_005512 LRRC32,LRRC32 EXON Missense_Q659P,Missense_Q659P exm942483 11 76370679 [T/C] NM_001128922,NM_005512 LRRC32,LRRC32 EXON Missense_R653Q,Missense_R653Q exm942487 11 76370694 [G/C] NM_001128922,NM_005512 LRRC32,LRRC32 EXON Missense_C648S,Missense_C648S exm942508 11 76371084 [T/C] NM_001128922,NM_005512 LRRC32,LRRC32 EXON Missense_R518Q,Missense_R518Q exm942509 11 76371085 [A/G] NM_001128922,NM_005512 LRRC32,LRRC32 EXON Missense_R518W,Missense_R518W exm942519 11 76371220 [C/G] NM_001128922,NM_005512 LRRC32,LRRC32 EXON Missense_L473V,Missense_L473V exm942521 11 76371259 [A/C] NM_001128922,NM_005512 LRRC32,LRRC32 EXON Missense_A460S,Missense_A460S exm942524 11 76371301 [A/G] NM_001128922,NM_005512 LRRC32,LRRC32 EXON Missense_R446C,Missense_R446C exm942532 11 76371397 [A/G] NM_001128922,NM_005512 LRRC32,LRRC32 EXON Missense_R414W,Missense_R414W exm942534 11 76371418 [T/C] NM_001128922,NM_005512 LRRC32,LRRC32 EXON Missense_A407T,Missense_A407T exm942542 11 76371565 [A/G] NM_001128922,NM_005512 LRRC32,LRRC32 EXON Missense_R358C,Missense_R358C exm942543 11 76371568 [A/G] NM_001128922,NM_005512 LRRC32,LRRC32 EXON Missense_R357W,Missense_R357W exm942545 11 76371703 [A/G] NM_001128922,NM_005512 LRRC32,LRRC32 EXON Missense_R312C,Missense_R312C exm942546 11 76371705 [G/C] NM_001128922,NM_005512 LRRC32,LRRC32 EXON Missense_G311A,Missense_G311A exm942560 11 76371908 [G/C] NM_001128922,NM_005512 LRRC32,LRRC32 EXON Missense_F243L,Missense_F243L exm942563 11 76371933 [A/G] NM_001128922,NM_005512 LRRC32,LRRC32 EXON Missense_T235M,Missense_T235M exm942567 11 76371946 [C/G] NM_001128922,NM_005512 LRRC32,LRRC32 EXON Missense_E231Q,Missense_E231Q exm942581 11 76372116 [A/G] NM_001128922,NM_005512 LRRC32,LRRC32 EXON Missense_A174V,Missense_A174V exm942582 11 76372126 [T/C] NM_001128922,NM_005512 LRRC32,LRRC32 EXON Missense_D171N,Missense_D171N exm942594 11 76372263 [T/C] NM_001128922,NM_005512 LRRC32,LRRC32 EXON Missense_R125H,Missense_R125H exm1737759 11 76372296 [A/G] NM_001128922,NM_005512 LRRC32,LRRC32 EXON Missense_A114V,Missense_A114V exm942607 11 76376980 [T/G] NM_001128922,NM_005512 LRRC32,LRRC32 EXON Missense_L7M,Missense_L7M exm2264430 11 76420924 [A/C] NR_024042 GUCY2EP Silent exm1737783 11 76506691 [A/G] NM_001258210,NM_015516 TSKU,TSKU EXON Missense_V11M,Missense_V11M exm942636 11 76506811 [T/A] NM_001258210,NM_015516 TSKU,TSKU EXON Missense_I51F,Missense_I51F exm942639 11 76506838 [A/G] NM_001258210,NM_015516 TSKU,TSKU EXON Missense_T60A,Missense_T60A exm942646 11 76506995 [T/C] NM_001258210,NM_015516 TSKU,TSKU EXON Missense_S112L,Missense_S112L exm942648 11 76507021 [A/C] NM_001258210,NM_015516 TSKU,TSKU EXON Missense_T121P,Missense_T121P exm942649 11 76507024 [A/G] NM_001258210,NM_015516 TSKU,TSKU EXON Missense_A122T,Missense_A122T exm942656 11 76507144 [T/G] NM_001258210,NM_015516 TSKU,TSKU EXON Missense_V162L,Missense_V162L exm942668 11 76507282 [T/C] NM_001258210,NM_015516 TSKU,TSKU EXON Missense_R208C,Missense_R208C exm942674 11 76507397 [T/C] NM_001258210,NM_015516 TSKU,TSKU EXON Missense_A246V,Missense_A246V exm942675 11 76507403 [A/G] NM_001258210,NM_015516 TSKU,TSKU EXON Missense_S248N,Missense_S248N exm942677 11 76507412 [A/G] NM_001258210,NM_015516 TSKU,TSKU EXON Missense_R251H,Missense_R251H exm942680 11 76507424 [T/G] NM_001258210,NM_015516 TSKU,TSKU EXON Missense_G255V,Missense_G255V exm942695 11 76507692 [T/A] NM_001258210,NM_015516 TSKU,TSKU EXON Missense_D344E,Missense_D344E exm942709 11 76637651 [A/G] NM_018367 ACER3 EXON Missense_V52I exm942711 11 76637687 [A/G] NM_018367 ACER3 EXON Missense_I64V exm2267277 11 76660780 [A/G] NM_018367 ACER3 Silent exm2250298 11 76701606 [A/G] NM_018367 ACER3 EXON Synonymous_P142P exm942737 11 76726103 [A/G] NM_018367 ACER3 EXON Missense_I181V exm942749 11 76750708 [A/G] NM_138706 B3GNT6 EXON Missense_R38Q exm942759 11 76750951 [T/C] NM_138706 B3GNT6 EXON Missense_L119P exm942770 11 76751166 [A/G] NM_138706 B3GNT6 EXON Missense_A191T exm942774 11 76751239 [C/G] NM_138706 B3GNT6 EXON Missense_A215G exm2219488 11 76751497 [A/G] NM_138706 B3GNT6 EXON Missense_H301R exm942834 11 76751649 [G/C] NM_138706 B3GNT6 EXON Missense_E351Q exm942846 11 76795984 [T/C] NM_004055 CAPN5 EXON Missense_R18W exm942847 11 76795985 [A/G] NM_004055 CAPN5 EXON Missense_R18Q exm1737981 11 76796077 [A/G] NM_004055 CAPN5 EXON Missense_V49I exm942864 11 76804729 [A/G] NM_004055 CAPN5 EXON Missense_G56D exm942871 11 76804776 [A/G] NM_004055 CAPN5 EXON Missense_D72N exm942873 11 76804812 [T/G] NM_004055 CAPN5 EXON Missense_V84L exm942880 11 76813931 [G/C] NM_004055,NM_006189 CAPN5,OMP EXON Silent,Missense_V16L exm942881 11 76813961 [T/C] NM_004055,NM_006189 CAPN5,OMP EXON Silent,Missense_R26W exm942884 11 76813968 [A/G] NM_004055,NM_006189 CAPN5,OMP EXON Silent,Missense_R28H exm942887 11 76813991 [A/G] NM_004055,NM_006189 CAPN5,OMP EXON Silent,Missense_G36R exm942888 11 76814000 [T/C] NM_004055,NM_006189 CAPN5,OMP EXON Silent,Missense_R39C exm942892 11 76814080 [A/C] NM_004055,NM_006189 CAPN5,OMP EXON Silent,Missense_F65L exm942894 11 76814085 [A/G] NM_004055,NM_006189 CAPN5,OMP EXON Silent,Missense_R67H exm942903 11 76814268 [A/G] NM_004055,NM_006189 CAPN5,OMP EXON Silent,Missense_R128H exm-rs3781684 11 76823484 [T/C] NM_004055 CAPN5 Silent exm942915 11 76823715 [T/G] NM_004055 CAPN5 EXON Missense_W126C exm942927 11 76825431 [A/G] NM_004055 CAPN5 EXON Missense_R217H exm942937 11 76826529 [A/G] NM_004055 CAPN5 EXON Missense_R263H exm942941 11 76826603 [A/G] NM_004055 CAPN5 EXON Missense_E288K exm1738026 11 76831801 [A/G] NM_004055 CAPN5 EXON Missense_K445E exm942969 11 76831807 [A/G] NM_004055 CAPN5 EXON Missense_A447T exm942970 11 76831817 [A/T] NM_004055 CAPN5 EXON Missense_I450N exm942979 11 76832987 [T/C] NM_004055 CAPN5 EXON Missense_R499C exm942987 11 76833666 [T/C] NM_004055 CAPN5 EXON Missense_R550C exm1738037 11 76833711 [A/C] NM_004055 CAPN5 EXON Missense_K565Q exm942999 11 76834830 [T/C] NM_004055 CAPN5 EXON Missense_R613W exm943000 11 76834837 [A/G] NM_004055 CAPN5 EXON Missense_R615Q exm943010 11 76853775 [A/C] NM_000260,NM_001127179,NM_001127180 MYO7A,MYO7A,MYO7A EXON Missense_D13E,Missense_D13E,Missense_D13E exm943011 11 76853783 [T/C] NM_000260,NM_001127179,NM_001127180 MYO7A,MYO7A,MYO7A EXON Missense_L16S,Missense_L16S,Missense_L16S exm943028 11 76867047 [T/C] NM_000260,NM_001127179,NM_001127180 MYO7A,MYO7A,MYO7A EXON Missense_I127T,Missense_I127T,Missense_I127T exm943030 11 76867064 [A/C] NM_000260,NM_001127179,NM_001127180 MYO7A,MYO7A,MYO7A EXON Missense_H133N,Missense_H133N,Missense_H133N exm943035 11 76867116 [A/G] NM_000260,NM_001127179,NM_001127180 MYO7A,MYO7A,MYO7A EXON Missense_R150Q,Missense_R150Q,Missense_R150Q exm943043 11 76867929 [T/C] NM_000260,NM_001127179,NM_001127180 MYO7A,MYO7A,MYO7A EXON Missense_I205T,Missense_I205T,Missense_I205T exm943046 11 76867967 [A/G] NM_000260,NM_001127179,NM_001127180 MYO7A,MYO7A,MYO7A EXON Missense_D218N,Missense_D218N,Missense_D218N exm943048 11 76867991 [A/G] NM_000260,NM_001127179,NM_001127180 MYO7A,MYO7A,MYO7A EXON Missense_A226T,Missense_A226T,Missense_A226T exm943055 11 76868046 [A/G] NM_000260,NM_001127179,NM_001127180 MYO7A,MYO7A,MYO7A EXON Missense_R244H,Missense_R244H,Missense_R244H exm943059 11 76868392 [A/G] NM_000260,NM_001127179,NM_001127180 MYO7A,MYO7A,MYO7A EXON Missense_K268R,Missense_K268R,Missense_K268R exm943064 11 76869378 [A/G] NM_000260,NM_001127179,NM_001127180 MYO7A,MYO7A,MYO7A EXON Missense_R302H,Missense_R302H,Missense_R302H exm943071 11 76870496 [A/G] NM_000260,NM_001127179,NM_001127180 MYO7A,MYO7A,MYO7A EXON Missense_R336H,Missense_R336H,Missense_R336H exm943078 11 76871246 [A/G] NM_000260,NM_001127179,NM_001127180 MYO7A,MYO7A,MYO7A EXON Missense_R373H,Missense_R373H,Missense_R373H exm943080 11 76871260 [T/C] NM_000260,NM_001127179,NM_001127180 MYO7A,MYO7A,MYO7A EXON Missense_R378C,Missense_R378C,Missense_R378C exm943088 11 76872106 [T/C] NM_000260,NM_001127179,NM_001127180 MYO7A,MYO7A,MYO7A EXON Missense_R430C,Missense_R430C,Missense_R430C exm943110 11 76877137 [A/G] NM_000260,NM_001127179,NM_001127180 MYO7A,MYO7A,MYO7A EXON Missense_D576N,Missense_D576N,Missense_D576N exm1738116 11 76883864 [A/G] NM_000260,NM_001127179,NM_001127180 MYO7A,MYO7A,MYO7A EXON Missense_R623H,Missense_R623H,Missense_R623H exm943125 11 76885826 [T/C] NM_000260,NM_001127179,NM_001127180 MYO7A,MYO7A,MYO7A EXON Missense_R654C,Missense_R654C,Missense_R654C exm943126 11 76885871 [T/C] NM_000260,NM_001127179,NM_001127180 MYO7A,MYO7A,MYO7A EXON Nonsense_R669X,Nonsense_R669X,Nonsense_R669X exm943127 11 76885872 [A/G] NM_000260,NM_001127179,NM_001127180 MYO7A,MYO7A,MYO7A EXON Missense_R669Q,Missense_R669Q,Missense_R669Q exm943129 11 76885901 [A/G] NM_000260,NM_001127179,NM_001127180 MYO7A,MYO7A,MYO7A EXON Missense_V679I,Missense_V679I,Missense_V679I exm943132 11 76885947 [T/C] NM_000260,NM_001127179,NM_001127180 MYO7A,MYO7A,MYO7A EXON Missense_P694L,Missense_P694L,Missense_P694L exm943143 11 76888625 [T/C] NM_000260,NM_001127179,NM_001127180 MYO7A,MYO7A,MYO7A EXON Missense_R740W,Missense_R740W,Missense_R740W exm943145 11 76888643 [A/G] NM_000260,NM_001127179,NM_001127180 MYO7A,MYO7A,MYO7A EXON Missense_D746N,Missense_D746N,Missense_D746N exm943148 11 76890091 [A/G] NM_000260,NM_001127179,NM_001127180 MYO7A,MYO7A,MYO7A EXON Synonymous_R761R,Synonymous_R761R,Synonymous_R761R exm943151 11 76890131 [T/C] NM_000260,NM_001127179,NM_001127180 MYO7A,MYO7A,MYO7A EXON Nonsense_Q775X,Nonsense_Q775X,Nonsense_Q775X exm943155 11 76890860 [A/G] NM_000260,NM_001127179,NM_001127180 MYO7A,MYO7A,MYO7A EXON Missense_R816H,Missense_R816H,Missense_R816H exm943162 11 76890940 [A/G] NM_000260,NM_001127179,NM_001127180 MYO7A,MYO7A,MYO7A EXON Missense_V843M,Missense_V843M,Missense_V843M exm1738136 11 76891430 [A/G] NM_000260,NM_001127179,NM_001127180 MYO7A,MYO7A,MYO7A EXON Missense_R866H,Missense_R866H,Missense_R866H exm943167 11 76891450 [T/C] NM_000260,NM_001127179,NM_001127180 MYO7A,MYO7A,MYO7A EXON Missense_R873W,Missense_R873W,Missense_R873W exm943178 11 76892529 [A/G] NM_000260,NM_001127179,NM_001127180 MYO7A,MYO7A,MYO7A EXON Missense_R933H,Missense_R933H,Missense_R933H exm943179 11 76892613 [A/G] NM_000260,NM_001127179,NM_001127180 MYO7A,MYO7A,MYO7A EXON Missense_G961D,Missense_G961D,Missense_G961D exm943180 11 76892617 [C/G] NM_000260,NM_001127179,NM_001127180 MYO7A,MYO7A,MYO7A EXON Missense_Q962H,Missense_Q962H,Missense_Q962H exm943201 11 76893643 [A/G] NM_000260,NM_001127179,NM_001127180 MYO7A,MYO7A,MYO7A EXON Missense_E1095K,Missense_E1095K,Missense_E1095K exm2250301 11 76895731 [T/C] NM_000260,NM_001127179,NM_001127180 MYO7A,MYO7A,MYO7A EXON Synonymous_I1158I,Synonymous_I1158I,Synonymous_I1158I exm943214 11 76895733 [T/G] NM_000260,NM_001127179,NM_001127180 MYO7A,MYO7A,MYO7A EXON Missense_G1159V,Missense_G1159V,Missense_G1159V exm943220 11 76895792 [T/G] NM_000260,NM_001127179,NM_001127180 MYO7A,MYO7A,MYO7A EXON Silent,Missense_X1179G,Silent exm943222 11 76900421 [T/A] NM_000260,NM_001127180 MYO7A,MYO7A EXON Missense_L1179Q,Missense_L1179Q exm2250302 11 76901927 [T/C] NM_000260,NM_001127180 MYO7A,MYO7A Silent,Silent exm943253 11 76903126 [A/G] NM_000260,NM_001127180 MYO7A,MYO7A EXON Missense_V1319I,Missense_V1319I exm943264 11 76903237 [A/T] NM_000260,NM_001127180 MYO7A,MYO7A EXON Missense_S1356C,Missense_S1356C exm943268 11 76905415 [A/C] NM_000260,NM_001127180 MYO7A,MYO7A EXON Missense_E1390A,Missense_E1390A exm943280 11 76908589 [T/C] NM_000260,NM_001127180 MYO7A,MYO7A EXON Missense_R1463C,Missense_R1463C exm943285 11 76909548 [T/C] NM_000260,NM_001127180 MYO7A,MYO7A EXON Missense_L1484F,Missense_L1484F exm943292 11 76910600 [T/C] NM_000260,NM_001127180 MYO7A,MYO7A EXON Missense_S1530L,Silent exm2250303 11 76910709 [A/G] NM_000260,NM_001127180 MYO7A,MYO7A EXON Synonymous_T1566T,Synonymous_T1528T exm943303 11 76910768 [A/G] NM_000260,NM_001127180 MYO7A,MYO7A EXON Missense_N1586S,Missense_N1548S exm943305 11 76910816 [A/G] NM_000260,NM_001127180 MYO7A,MYO7A EXON Missense_R1602Q,Missense_R1564Q exm943309 11 76912556 [T/C] NM_000260,NM_001127180 MYO7A,MYO7A EXON Missense_T1639M,Missense_T1601M exm943320 11 76912636 [T/A] NM_000260,NM_001127180 MYO7A,MYO7A EXON Missense_S1666C,Missense_S1628C exm943326 11 76913409 [T/C] NM_000260,NM_001127180 MYO7A,MYO7A EXON Missense_A1703V,Missense_A1665V exm943330 11 76913457 [A/G] NM_000260,NM_001127180 MYO7A,MYO7A EXON Missense_Y1719C,Missense_Y1681C exm943334 11 76914163 [T/C] NM_000260,NM_001127180 MYO7A,MYO7A EXON Missense_R1743W,Missense_R1705W exm943338 11 76914260 [T/C] NM_000260,NM_001127180 MYO7A,MYO7A EXON Missense_I1775T,Missense_I1737T exm943341 11 76915143 [A/C] NM_000260,NM_001127180 MYO7A,MYO7A EXON Missense_D1783E,Missense_D1745E exm943363 11 76917186 [T/C] NM_000260,NM_001127180 MYO7A,MYO7A EXON Missense_A1894V,Missense_A1856V exm943370 11 76919478 [A/C] NM_000260,NM_001127180 MYO7A,MYO7A EXON Missense_L1954I,Missense_L1916I exm943371 11 76919484 [A/G] NM_000260,NM_001127180 MYO7A,MYO7A EXON Missense_V1956I,Missense_V1918I exm1738214 11 76922327 [A/G] NM_000260,NM_001127180 MYO7A,MYO7A EXON Missense_R2061Q,Missense_R2023Q exm943391 11 76922359 [A/G] NM_000260,NM_001127180 MYO7A,MYO7A EXON Missense_V2072I,Missense_V2034I exm943396 11 76922875 [A/G] NM_000260,NM_001127180 MYO7A,MYO7A EXON Missense_A2083T,Missense_A2045T exm943403 11 76924066 [A/G] NM_000260,NM_001127180 MYO7A,MYO7A EXON Missense_D2142N,Missense_D2102N exm943412 11 76925013 [A/G] NM_000260,NM_001127180 MYO7A,MYO7A EXON Missense_E2183K,Missense_E2143K exm943422 11 76925733 [A/G] NM_000260,NM_001127180 MYO7A,MYO7A EXON Missense_G2214S,Missense_G2174S exm943427 11 76928356 [A/G] NM_182833 GDPD4 EXON Missense_T510I exm943428 11 76928357 [T/C] NM_182833 GDPD4 EXON Missense_T510A exm1738240 11 76938910 [T/A] NM_182833 GDPD4 EXON Synonymous_T508T exm943430 11 76938915 [A/G] NM_182833 GDPD4 EXON Missense_R507C exm943434 11 76940264 [T/C] NM_182833 GDPD4 EXON Missense_Y468C exm943438 11 76944123 [T/A] NM_182833 GDPD4 EXON Missense_T446S exm943445 11 76954778 [A/G] NM_182833 GDPD4 EXON Missense_I401T exm943448 11 76954812 [T/C] NM_182833 GDPD4 EXON Missense_I390V exm943449 11 76954833 [A/G] NM_182833 GDPD4 EXON Missense_H383Y exm943464 11 76969573 [A/G] NM_182833 GDPD4 EXON Missense_P241L exm943467 11 76979511 [A/G] NM_182833 GDPD4 EXON Missense_I233T exm943469 11 76979550 [T/C] NM_182833 GDPD4 EXON Missense_K220R exm1738257 11 76979586 [T/G] NM_182833 GDPD4 Silent exm943474 11 76980109 [T/G] NM_182833 GDPD4 EXON Missense_Q162K exm943477 11 76980955 [T/G] NM_182833 GDPD4 EXON Missense_Q151K exm943480 11 76982175 [G/C] NM_182833 GDPD4 EXON Missense_V134L exm943483 11 76982252 [A/C] NM_182833 GDPD4 EXON Missense_V108G exm943484 11 76982342 [T/G] NM_182833 GDPD4 EXON Missense_Q102K exm943528 11 77070037 [T/G] NM_001128620,NM_002576 PAK1,PAK1 EXON Missense_P168H,Missense_P168H exm943539 11 77090939 [T/C] NM_001128620,NM_002576 PAK1,PAK1 EXON Synonymous_T97T,Synonymous_T97T exm943547 11 77103555 [T/C] NM_001128620,NM_002576 PAK1,PAK1 EXON Missense_N4S,Missense_N4S exm2271526 11 77215400 [T/G] exm1738445 11 77301121 [A/G] NM_173039 AQP11 EXON Missense_M28I exm943562 11 77301341 [A/G] NM_173039 AQP11 EXON Missense_G102S exm943563 11 77301357 [T/C] NM_173039 AQP11 EXON Missense_M107T exm943568 11 77301471 [A/C] NM_173039 AQP11 EXON Missense_Q145P exm943569 11 77301472 [T/G] NM_173039 AQP11 EXON Missense_Q145H exm943581 11 77301657 [T/G] NM_173039 AQP11 Silent exm943588 11 77320365 [A/G] NM_173039 AQP11 EXON Missense_M253I exm943597 11 77336010 [T/C] NM_001293 CLNS1A EXON Missense_H157R exm943598 11 77336017 [T/C] NM_001293 CLNS1A EXON Missense_E155K exm943604 11 77336763 [T/C] NM_001293 CLNS1A EXON Synonymous_A121A exm943626 11 77378210 [T/G] NM_016578 RSF1 EXON Missense_P1360T exm2250307 11 77378388 [T/C] NM_016578 RSF1 EXON Synonymous_L1300L exm943643 11 77378531 [A/G] NM_016578 RSF1 EXON Missense_Y1253H exm943646 11 77383137 [T/G] NM_016578 RSF1 EXON Missense_K1234T exm943656 11 77383268 [C/G] NM_016578 RSF1 EXON Missense_D1190E exm943662 11 77386155 [T/C] NM_016578 RSF1 EXON Missense_R1163Q exm943663 11 77386177 [T/C] NM_016578 RSF1 EXON Missense_M1156V exm943666 11 77386245 [A/G] NM_016578 RSF1 EXON Missense_P1133L exm943675 11 77387933 [C/G] NM_016578 RSF1 EXON Missense_A1082G exm943676 11 77387934 [T/C] NM_016578 RSF1 EXON Missense_A1082T exm943692 11 77404624 [T/G] NM_016578 RSF1 EXON Nonsense_Y916X exm943697 11 77409603 [T/C] NM_016578 RSF1 EXON Missense_S882G exm943699 11 77409714 [A/G] NM_016578 RSF1 EXON Missense_W845R exm943715 11 77412140 [A/G] NM_016578 RSF1 EXON Missense_P712S exm943717 11 77412162 [T/G] NM_016578 RSF1 EXON Missense_S704R exm2276199 11 77412179 [G/C] NM_016578 RSF1 EXON Missense_G699R exm943719 11 77412194 [A/G] NM_016578 RSF1 EXON Missense_P694S exm943720 11 77412230 [T/C] NM_016578 RSF1 EXON Missense_N682D exm943721 11 77412344 [T/C] NM_016578 RSF1 EXON Missense_E644K exm943723 11 77412456 [T/C] NM_016578 RSF1 EXON Missense_I606M exm943729 11 77412542 [A/G] NM_016578 RSF1 EXON Missense_R578C exm943735 11 77412646 [A/G] NM_016578 RSF1 EXON Missense_S543F exm943737 11 77412755 [T/C] NM_016578 RSF1 EXON Missense_A507T exm943739 11 77412851 [A/G] NM_016578 RSF1 EXON Missense_S475P exm943742 11 77413015 [A/T] NM_016578 RSF1 EXON Missense_Q420L exm943746 11 77413223 [T/C] NM_016578 RSF1 EXON Missense_I351V exm943747 11 77413267 [T/G] NM_016578 RSF1 EXON Missense_T336N exm943749 11 77413344 [T/G] NM_016578 RSF1 EXON Missense_E310D exm943751 11 77413362 [T/G] NM_016578 RSF1 EXON Missense_E304D exm943753 11 77413429 [T/C] NM_016578 RSF1 EXON Missense_D282G exm943754 11 77413481 [A/G] NM_016578 RSF1 EXON Missense_R265C exm943756 11 77436641 [A/G] NM_016578 RSF1 EXON Missense_P228S exm943763 11 77451894 [T/C] NM_016578 RSF1 EXON Missense_I154V exm943772 11 77531733 [C/G] NM_016578 RSF1 EXON Missense_V10L exm943777 11 77553595 [C/G] NM_024684 AAMDC EXON Missense_G18A exm943782 11 77553642 [T/C] NM_024684 AAMDC EXON Missense_R34W exm943784 11 77553649 [A/G] NM_024684 AAMDC EXON Nonsense_W36X exm943788 11 77580777 [C/G] NM_024684 AAMDC EXON Missense_G48R exm943789 11 77580781 [T/C] NM_024684 AAMDC EXON Missense_V49A exm943792 11 77583266 [A/G] NM_024684 AAMDC EXON Missense_V92M exm943802 11 77590122 [T/C] NM_033547 INTS4 EXON Missense_R922H exm943814 11 77602487 [T/C] NM_033547 INTS4 EXON Missense_I824V exm943847 11 77639438 [T/G] NM_033547 INTS4 EXON Missense_N441H exm943854 11 77649828 [A/G] NM_033547 INTS4 EXON Missense_S345L exm943865 11 77671396 [A/C] NM_033547 INTS4 EXON Missense_I233M exm943868 11 77672060 [A/G] NM_033547 INTS4 EXON Missense_I199T exm943869 11 77672087 [A/C] NM_033547 INTS4 EXON Missense_G190V exm943880 11 77690088 [A/G] NM_033547 INTS4 EXON Missense_P142L exm943882 11 77690119 [T/C] NM_033547 INTS4 EXON Missense_D132N exm943905 11 77727825 [A/C] NM_023930,NM_001203262,NM_001203260,NM_001203261 KCTD14,NDUFC2-KCTD14,NDUFC2-KCTD14,NDUFC2-KCTD14 EXON Missense_M194I,Silent,Silent,Silent exm943910 11 77727932 [T/C] NM_023930,NM_001203262,NM_001203260,NM_001203261 KCTD14,NDUFC2-KCTD14,NDUFC2-KCTD14,NDUFC2-KCTD14 EXON Missense_E159K,Silent,Silent,Silent exm943912 11 77727937 [T/C] NM_023930,NM_001203262,NM_001203260,NM_001203261 KCTD14,NDUFC2-KCTD14,NDUFC2-KCTD14,NDUFC2-KCTD14 EXON Missense_R157H,Silent,Silent,Silent exm943922 11 77728103 [C/G] NM_023930,NM_001203262,NM_001203260,NM_001203261 KCTD14,NDUFC2-KCTD14,NDUFC2-KCTD14,NDUFC2-KCTD14 EXON Missense_H102D,Silent,Silent,Silent exm2276200 11 77728169 [C/G] NM_023930,NM_001203262,NM_001203260,NM_001203261 KCTD14,NDUFC2-KCTD14,NDUFC2-KCTD14,NDUFC2-KCTD14 EXON Missense_D80H,Silent,Silent,Silent exm943928 11 77728195 [A/G] NM_023930,NM_001203262,NM_001203260,NM_001203261 KCTD14,NDUFC2-KCTD14,NDUFC2-KCTD14,NDUFC2-KCTD14 EXON Missense_T71M,Silent,Silent,Silent exm943931 11 77728285 [T/C] NM_023930,NM_001203262,NM_001203260,NM_001203261 KCTD14,NDUFC2-KCTD14,NDUFC2-KCTD14,NDUFC2-KCTD14 EXON Missense_G41D,Silent,Silent,Synonymous_G114G exm943933 11 77728290 [A/G] NM_023930,NM_001203262,NM_001203260,NM_001203261 KCTD14,NDUFC2-KCTD14,NDUFC2-KCTD14,NDUFC2-KCTD14 EXON Synonymous_V39V,Silent,Silent,Missense_R113W exm1738633 11 77734254 [T/C] NM_023930,NM_001203262,NM_001203260,NM_001203261 KCTD14,NDUFC2-KCTD14,NDUFC2-KCTD14,NDUFC2-KCTD14 EXON Missense_M14I,Silent,Silent,Silent exm943938 11 77734294 [T/A] NM_023930,NM_001203262,NM_001203260,NM_001203261 KCTD14,NDUFC2-KCTD14,NDUFC2-KCTD14,NDUFC2-KCTD14 EXON Missense_M1K,Silent,Silent,Silent exm2267195 11 77746118 [A/G] NM_001203262,NM_001203260,NM_001203261 NDUFC2-KCTD14,NDUFC2-KCTD14,NDUFC2-KCTD14 Silent,Silent,Silent exm943939 11 77774929 [T/C] NM_001203262,NM_001203260,NM_001203261,NR_046948,NM_003251 NDUFC2-KCTD14,NDUFC2-KCTD14,NDUFC2-KCTD14,RNU6-83,THRSP EXON Silent,Silent,Silent,Silent,Missense_M1T exm943940 11 77774947 [A/G] NM_001203262,NM_001203260,NM_001203261,NR_046948,NM_003251 NDUFC2-KCTD14,NDUFC2-KCTD14,NDUFC2-KCTD14,RNU6-83,THRSP EXON Silent,Silent,Silent,Silent,Missense_R7H exm943945 11 77775040 [A/G] NM_001203262,NM_001203260,NM_001203261,NR_046948,NM_003251 NDUFC2-KCTD14,NDUFC2-KCTD14,NDUFC2-KCTD14,RNU6-83,THRSP EXON Silent,Silent,Silent,Silent,Missense_R38Q exm2219507 11 77775228 [G/C] NM_001203262,NM_001203260,NM_001203261,NR_046948,NM_003251 NDUFC2-KCTD14,NDUFC2-KCTD14,NDUFC2-KCTD14,RNU6-83,THRSP EXON Silent,Silent,Silent,Silent,Missense_E101Q exm943965 11 77775352 [T/C] NM_001203262,NM_001203260,NM_001203261,NR_046948,NM_003251 NDUFC2-KCTD14,NDUFC2-KCTD14,NDUFC2-KCTD14,RNU6-83,THRSP EXON Silent,Silent,Silent,Silent,Missense_T142M exm943973 11 77784178 [T/C] NM_001203262,NM_001203260,NM_001203261,NR_046948,NM_004549,NM_001204055,NM_001204054 NDUFC2-KCTD14,NDUFC2-KCTD14,NDUFC2-KCTD14,RNU6-83,NDUFC2,NDUFC2,NDUFC2 EXON Silent,Missense_R59H,Missense_R59H,Silent,Missense_R59H,Silent,Missense_R59H exm943977 11 77790686 [T/G] NM_001203262,NM_001203260,NM_001203261,NR_046948,NM_004549,NM_001204055,NM_001204054 NDUFC2-KCTD14,NDUFC2-KCTD14,NDUFC2-KCTD14,RNU6-83,NDUFC2,NDUFC2,NDUFC2 EXON Missense_F35L,Missense_F35L,Missense_F35L,Silent,Missense_F35L,Missense_F35L,Missense_F35L exm943987 11 77812075 [T/C] NR_046948,NM_001007027,NM_024079 RNU6-83,ALG8,ALG8 EXON Silent,Silent,Missense_A506T exm943988 11 77812084 [T/C] NR_046948,NM_001007027,NM_024079 RNU6-83,ALG8,ALG8 EXON Silent,Silent,Missense_I503V exm943996 11 77815047 [A/G] NR_046948,NM_001007027,NM_024079 RNU6-83,ALG8,ALG8 EXON Silent,Missense_S443L,Missense_S443L exm943998 11 77815059 [A/G] NR_046948,NM_001007027,NM_024079 RNU6-83,ALG8,ALG8 EXON Silent,Missense_I439T,Missense_I439T exm943999 11 77815090 [T/C] NR_046948,NM_001007027,NM_024079 RNU6-83,ALG8,ALG8 EXON Silent,Missense_I429V,Missense_I429V exm944000 11 77815467 [A/G] NR_046948,NM_001007027,NM_024079 RNU6-83,ALG8,ALG8 EXON Silent,Missense_S404L,Missense_S404L exm944002 11 77820487 [A/C] NR_046948,NM_001007027,NM_024079 RNU6-83,ALG8,ALG8 Silent,Silent,Silent exm944005 11 77820546 [G/C] NR_046948,NM_001007027,NM_024079 RNU6-83,ALG8,ALG8 EXON Silent,Missense_T327R,Missense_T327R exm944011 11 77823698 [A/G] NR_046948,NM_001007027,NM_024079 RNU6-83,ALG8,ALG8 EXON Silent,Missense_I299T,Missense_I299T exm944012 11 77823725 [T/C] NR_046948,NM_001007027,NM_024079 RNU6-83,ALG8,ALG8 EXON Silent,Missense_N290S,Missense_N290S exm944015 11 77823791 [T/C] NR_046948,NM_001007027,NM_024079 RNU6-83,ALG8,ALG8 EXON Silent,Missense_R268Q,Missense_R268Q exm944020 11 77825027 [T/C] NR_046948,NM_001007027,NM_024079 RNU6-83,ALG8,ALG8 EXON Silent,Missense_I228V,Missense_I228V exm944022 11 77825034 [A/G] NR_046948,NM_001007027,NM_024079 RNU6-83,ALG8,ALG8 EXON Silent,Synonymous_D225D,Synonymous_D225D exm944026 11 77825320 [T/C] NR_046948,NM_001007027,NM_024079 RNU6-83,ALG8,ALG8 EXON Silent,Missense_N222S,Missense_N222S exm944027 11 77825341 [C/G] NR_046948,NM_001007027,NM_024079 RNU6-83,ALG8,ALG8 EXON Silent,Missense_R215P,Missense_R215P exm944031 11 77832110 [T/C] NM_001007027,NM_024079 ALG8,ALG8 Silent,Silent exm944043 11 77835184 [T/C] NM_001007027,NM_024079 ALG8,ALG8 EXON Missense_Y84C,Missense_Y84C exm944046 11 77838424 [T/C] NM_001007027,NM_024079 ALG8,ALG8 EXON Missense_I52V,Missense_I52V exm1738682 11 77838457 [A/G] NM_001007027,NM_024079 ALG8,ALG8 EXON Nonsense_R41X,Nonsense_R41X exm944055 11 77850634 [T/C] NM_001007027,NM_024079 ALG8,ALG8 EXON Missense_M1V,Missense_M1V exm2271625 11 77882393 [T/C] NM_001029859 KCTD21 EXON Silent exm1738689 11 77884952 [T/C] NM_001029859 KCTD21 EXON Missense_I217V exm944069 11 77885245 [T/C] NM_001029859 KCTD21 EXON Missense_R119H exm944076 11 77885385 [G/C] NM_001029859 KCTD21 EXON Missense_E72D exm944077 11 77885410 [T/C] NM_001029859 KCTD21 EXON Missense_R64Q exm944084 11 77885498 [T/C] NM_001029859 KCTD21 EXON Missense_G35R exm944097 11 77885594 [T/C] NM_001029859 KCTD21 EXON Missense_D3N exm944121 11 77907961 [A/G] NM_020798 USP35 EXON Missense_A224T exm944122 11 77909014 [A/G] NM_020798 USP35 EXON Missense_V236M exm944138 11 77911240 [T/C] NM_020798 USP35 EXON Missense_M333T exm944142 11 77911715 [G/C] NM_020798 USP35 EXON Missense_P353R exm944145 11 77911745 [T/C] NM_020798 USP35 EXON Missense_S363L exm944149 11 77916912 [T/C] NM_020798 USP35 EXON Missense_R408C exm944156 11 77917013 [T/G] NM_020798 USP35 EXON Missense_I441M exm944162 11 77918595 [T/C] NM_020798 USP35 EXON Missense_R471C exm944167 11 77919946 [T/C] NM_020798 USP35 EXON Missense_T510M exm944181 11 77920577 [T/C] NM_020798 USP35 EXON Missense_P559L exm944184 11 77920657 [A/G] NM_020798 USP35 EXON Missense_V586I exm944192 11 77920723 [T/C] NM_020798 USP35 EXON Missense_R608C exm944193 11 77920727 [A/G] NM_020798 USP35 EXON Missense_R609H exm944195 11 77920802 [A/G] NM_020798 USP35 EXON Missense_G634E exm944196 11 77920808 [A/G] NM_020798 USP35 EXON Missense_G636D exm944203 11 77920878 [T/C] NM_020798 USP35 EXON Synonymous_I659I exm2250313 11 77920878 [T/C] NM_020798 USP35 EXON Synonymous_I659I exm944205 11 77920930 [A/G] NM_020798 USP35 EXON Missense_I677V exm944206 11 77920946 [A/G] NM_020798 USP35 EXON Missense_E682G exm1738768 11 77921062 [A/G] NM_020798 USP35 EXON Missense_K721E exm944213 11 77921152 [T/C] NM_020798 USP35 EXON Missense_R751W exm2219510 11 77921236 [T/C] NM_020798 USP35 EXON Missense_R779C exm944222 11 77921348 [A/G] NM_020798 USP35 EXON Missense_R816H exm944235 11 77921422 [T/C] NM_020798 USP35 EXON Missense_R841C exm944241 11 77921518 [T/C] NM_020798 USP35 EXON Missense_R873C exm944242 11 77921527 [G/C] NM_020798 USP35 EXON Missense_A876P exm944247 11 77921582 [A/G] NM_020798 USP35 EXON Missense_N894S exm944255 11 77921693 [T/C] NM_020798 USP35 EXON Missense_P931L exm944256 11 77921723 [A/G] NM_020798 USP35 EXON Missense_R941Q exm944268 11 77924750 [T/C] NM_020798 USP35 EXON Missense_P983L exm944272 11 77924762 [A/G] NM_020798 USP35 EXON Missense_R987K exm944276 11 77924821 [A/G] NM_020798 USP35 EXON Missense_G1007S exm944299 11 77931456 [G/C] NM_012296,NM_080491 GAB2,GAB2 EXON Missense_G561A,Missense_G599A exm944308 11 77933157 [T/C] NM_012296,NM_080491 GAB2,GAB2 EXON Missense_R513K,Missense_R551K exm944313 11 77934541 [A/G] NM_012296,NM_080491 GAB2,GAB2 EXON Missense_T457I,Missense_T495I exm1738822 11 77934602 [T/C] NM_012296,NM_080491 GAB2,GAB2 EXON Missense_V437I,Missense_V475I exm944324 11 77934700 [T/C] NM_012296,NM_080491 GAB2,GAB2 EXON Missense_R404Q,Missense_R442Q exm944332 11 77936215 [T/C] NM_012296,NM_080491 GAB2,GAB2 EXON Missense_R376H,Missense_R414H exm944340 11 77937651 [C/G] NM_012296,NM_080491 GAB2,GAB2 EXON Missense_P318R,Missense_P356R exm2219512 11 77937687 [A/G] NM_012296,NM_080491 GAB2,GAB2 EXON Missense_P306L,Missense_P344L exm944342 11 77937696 [A/G] NM_012296,NM_080491 GAB2,GAB2 EXON Missense_V303A,Missense_V341A exm944344 11 77937768 [A/G] NM_012296,NM_080491 GAB2,GAB2 EXON Missense_P279L,Missense_P317L exm1738836 11 77937777 [A/G] NM_012296,NM_080491 GAB2,GAB2 EXON Missense_M276T,Missense_M314T exm1738837 11 77937828 [A/G] NM_012296,NM_080491 GAB2,GAB2 EXON Missense_T259M,Missense_T297M exm944348 11 77937843 [A/G] NM_012296,NM_080491 GAB2,GAB2 EXON Missense_V254A,Missense_V292A exm944352 11 77937928 [T/C] NM_012296,NM_080491 GAB2,GAB2 EXON Missense_S226G,Missense_S264G exm944359 11 77938042 [T/C] NM_012296,NM_080491 GAB2,GAB2 EXON Missense_A188T,Missense_A226T exm944366 11 77961270 [A/G] NM_012296,NM_080491 GAB2,GAB2 EXON Missense_S147P,Missense_S185P exm944374 11 77961419 [A/C] NM_012296,NM_080491 GAB2,GAB2 EXON Missense_G97V,Missense_G135V exm944376 11 77961445 [A/G] NM_012296,NM_080491 GAB2,GAB2 EXON Synonymous_D88D,Synonymous_D126D exm944378 11 77991667 [T/C] NM_012296,NM_080491 GAB2,GAB2 EXON Missense_N81S,Missense_N119S exm-rs2373115 11 78091150 [A/C] NM_080491 GAB2 Silent exm-rs10899489 11 78095373 [A/C] NM_080491 GAB2 Silent exm944414 11 78177004 [T/C] NM_024678,NM_001243251 NARS2,NARS2 EXON Missense_N361S,Missense_N134S exm944417 11 78177044 [A/G] NM_024678,NM_001243251 NARS2,NARS2 EXON Missense_R348W,Missense_R121W exm944422 11 78180311 [C/G] NM_024678,NM_001243251 NARS2,NARS2 EXON Missense_N336K,Missense_N109K exm944428 11 78189653 [T/C] NM_024678,NM_001243251 NARS2,NARS2 EXON Missense_K300R,Missense_K73R exm944433 11 78189712 [G/C] NM_024678,NM_001243251 NARS2,NARS2 EXON Missense_F280L,Missense_F53L exm944436 11 78204140 [C/G] NM_024678,NM_001243251 NARS2,NARS2 EXON Missense_S264C,Missense_S37C exm944442 11 78204242 [C/G] NM_024678,NM_001243251 NARS2,NARS2 Silent,Silent exm944443 11 78239889 [G/C] NM_024678,NM_001243251 NARS2,NARS2 EXON Missense_G230R,Missense_G3R exm944453 11 78270665 [T/C] NM_024678,NM_001243251 NARS2,NARS2 EXON Missense_D172N,Silent exm944459 11 78277260 [T/C] NM_024678,NM_001243251 NARS2,NARS2 EXON Missense_H144R,Silent exm944464 11 78277317 [T/C] NM_024678,NM_001243251 NARS2,NARS2 EXON Missense_D125G,Silent exm944469 11 78279790 [T/G] NM_024678,NM_001243251 NARS2,NARS2 EXON Missense_N87T,Silent exm944472 11 78282425 [C/G] NM_024678,NM_001243251 NARS2,NARS2 EXON Missense_S69C,Silent exm944477 11 78285406 [A/C] NM_024678,NM_001243251 NARS2,NARS2 EXON Missense_R43L,Silent exm2271626 11 78317997 [T/C] exm2250314 11 78360169 [T/C] exm944503 11 78369332 [T/G] NM_001098816 TENM4 EXON Missense_A2694D exm944504 11 78369348 [A/G] NM_001098816 TENM4 EXON Missense_R2689W exm944506 11 78369402 [T/C] NM_001098816 TENM4 EXON Missense_G2671R exm944508 11 78369413 [T/C] NM_001098816 TENM4 EXON Missense_Q2667R exm944515 11 78369480 [T/C] NM_001098816 TENM4 EXON Missense_V2645I exm944516 11 78369500 [T/C] NM_001098816 TENM4 EXON Missense_R2638Q exm944517 11 78369501 [A/G] NM_001098816 TENM4 EXON Missense_R2638W exm944519 11 78369573 [T/C] NM_001098816 TENM4 EXON Missense_V2614M exm944520 11 78369597 [A/T] NM_001098816 TENM4 EXON Missense_N2606Y exm944523 11 78369650 [T/C] NM_001098816 TENM4 EXON Missense_N2588S exm944525 11 78369684 [A/C] NM_001098816 TENM4 EXON Missense_G2577C exm944529 11 78369726 [T/C] NM_001098816 TENM4 EXON Missense_G2563S exm944532 11 78369834 [T/G] NM_001098816 TENM4 EXON Missense_Q2527K exm944543 11 78380037 [T/C] NM_001098816 TENM4 EXON Missense_M2451I exm944545 11 78380062 [T/C] NM_001098816 TENM4 EXON Missense_N2443S exm944546 11 78380078 [A/G] NM_001098816 TENM4 EXON Missense_H2438Y exm944547 11 78380090 [T/C] NM_001098816 TENM4 EXON Missense_E2434K exm1738922 11 78380625 [T/C] NM_001098816 TENM4 EXON Missense_M2255I exm944602 11 78381505 [A/G] NM_001098816 TENM4 EXON Missense_A1962V exm944609 11 78381581 [C/G] NM_001098816 TENM4 EXON Missense_L1937V exm944611 11 78383209 [T/A] NM_001098816 TENM4 EXON Missense_S1888T exm944614 11 78383222 [A/G] NM_001098816 TENM4 EXON Synonymous_V1883V exm2250315 11 78383222 [A/G] NM_001098816 TENM4 EXON Synonymous_V1883V exm944617 11 78383269 [T/C] NM_001098816 TENM4 EXON Missense_A1868T exm944625 11 78387274 [T/C] NM_001098816 TENM4 EXON Missense_G1807S exm944627 11 78387298 [T/G] NM_001098816 TENM4 EXON Missense_N1799H exm944632 11 78387406 [T/C] NM_001098816 TENM4 EXON Missense_G1763R exm944633 11 78387423 [T/C] NM_001098816 TENM4 EXON Missense_R1757Q exm944643 11 78412642 [C/G] NM_001098816 TENM4 EXON Missense_M1672I exm944647 11 78412763 [T/C] NM_001098816 TENM4 EXON Missense_R1632H exm944661 11 78413004 [T/C] NM_001098816 TENM4 EXON Missense_V1552M exm944662 11 78413045 [A/G] NM_001098816 TENM4 EXON Missense_T1538I exm944664 11 78413100 [T/C] NM_001098816 TENM4 EXON Missense_N1520D exm944666 11 78413142 [T/C] NM_001098816 TENM4 EXON Missense_V1506I exm944672 11 78413225 [T/C] NM_001098816 TENM4 EXON Missense_N1478S exm944678 11 78413320 [T/C] NM_001098816 TENM4 EXON Missense_M1446I exm944696 11 78419534 [T/C] NM_001098816 TENM4 EXON Missense_I1361V exm944700 11 78423620 [T/C] NM_001098816 TENM4 EXON Missense_V1321I exm944705 11 78431418 [T/C] NM_001098816 TENM4 EXON Missense_H1273R exm944716 11 78433927 [A/C] NM_001098816 TENM4 EXON Missense_V1196L exm2250318 11 78437182 [A/G] NM_001098816 TENM4 EXON Synonymous_D1164D exm944730 11 78440687 [A/G] NM_001098816 TENM4 EXON Missense_A1047V exm2219521 11 78443582 [A/G] NM_001098816 TENM4 EXON Missense_R973W exm944741 11 78443605 [T/C] NM_001098816 TENM4 EXON Missense_N965S exm944742 11 78449568 [C/G] NM_001098816 TENM4 EXON Missense_P935R exm944744 11 78449583 [A/G] NM_001098816 TENM4 EXON Missense_T930I exm944747 11 78467858 [A/C] NM_001098816 TENM4 EXON Missense_F916L exm2250320 11 78482113 [A/G] NM_001098816 TENM4 EXON Synonymous_C821C exm944767 11 78497994 [T/C] NM_001098816 TENM4 EXON Missense_D772N exm944784 11 78516496 [T/C] NM_001098816 TENM4 EXON Missense_V674M exm944787 11 78516513 [A/G] NM_001098816 TENM4 EXON Missense_S668L exm944802 11 78565314 [C/G] NM_001098816 TENM4 EXON Missense_E506Q exm944804 11 78567026 [A/G] NM_001098816 TENM4 EXON Missense_P485S exm944814 11 78574076 [T/C] NM_001098816 TENM4 EXON Missense_V396I exm944816 11 78574128 [C/G] NM_001098816 TENM4 EXON Missense_Q378H exm2271528 11 79031671 [T/C] NM_001098816 TENM4 Silent exm-rs530965 11 79065101 [T/C] NM_001098816 TENM4 Silent exm-rs12290811 11 79083620 [A/T] NM_001098816 TENM4 Silent exm2271627 11 79376133 [T/C] exm2267196 11 79683501 [A/G] exm2250330 11 79980044 [A/C] exm-rs12291120 11 80132486 [A/G] exm2271628 11 80547481 [T/C] exm-rs4945452 11 80614777 [A/G] exm2271529 11 80678802 [T/C] exm-rs1357339 11 80854375 [A/C] exm-rs1458095 11 80985548 [T/C] exm2271629 11 81006339 [T/C] exm2267197 11 81013539 [A/G] exm2271530 11 81441351 [T/C] exm2271531 11 81979892 [T/C] exm2259881 11 82094199 [A/C] exm2267198 11 82338312 [A/G] exm944849 11 82443501 [A/T] NM_175885 FAM181B EXON Missense_H424L exm944856 11 82443672 [C/G] NM_175885 FAM181B EXON Missense_R367P exm944858 11 82443720 [T/C] NM_175885 FAM181B EXON Missense_S351N exm944866 11 82443955 [T/C] NM_175885 FAM181B EXON Missense_G273S exm944868 11 82444021 [T/G] NM_175885 FAM181B EXON Missense_S251R exm944889 11 82444668 [C/G] NM_175885 FAM181B EXON Missense_G35A exm944897 11 82536108 [G/C] NM_199418,NM_005040 PRCP,PRCP EXON Missense_T465S,Missense_T444S exm944908 11 82550304 [T/G] NM_199418,NM_005040 PRCP,PRCP EXON Missense_Q383P,Missense_Q362P exm944909 11 82550340 [T/G] NM_199418,NM_005040 PRCP,PRCP EXON Missense_A371E,Missense_A350E exm944917 11 82550466 [A/G] NM_199418,NM_005040 PRCP,PRCP EXON Missense_V329A,Missense_V308A exm944926 11 82561019 [T/C] NM_199418,NM_005040 PRCP,PRCP EXON Missense_G251S,Missense_G230S exm944929 11 82561037 [T/C] NM_199418,NM_005040 PRCP,PRCP EXON Missense_T245A,Missense_T224A exm944932 11 82561083 [C/G] NM_199418,NM_005040 PRCP,PRCP EXON Missense_Q229H,Missense_Q208H exm944941 11 82564294 [T/G] NM_199418,NM_005040 PRCP,PRCP EXON Missense_E133D,Missense_E112D exm944944 11 82571070 [T/C] NM_199418,NM_005040 PRCP,PRCP EXON Missense_I107M,Missense_I86M exm944947 11 82571138 [T/C] NM_199418,NM_005040 PRCP,PRCP EXON Missense_T85A,Missense_T64A exm944961 11 82625793 [T/C] NM_145018 C11orf82 EXON Nonsense_R5X exm944971 11 82641233 [A/C] NM_145018 C11orf82 EXON Missense_L104M exm944976 11 82641312 [T/C] NM_145018 C11orf82 EXON Missense_V130A exm944977 11 82641315 [T/C] NM_145018 C11orf82 EXON Missense_T131M exm944982 11 82642868 [T/G] NM_145018 C11orf82 EXON Missense_C163F exm2219539 11 82642948 [A/T] NM_145018 C11orf82 EXON Missense_F190I exm944986 11 82642952 [A/G] NM_145018 C11orf82 EXON Missense_R191K exm944993 11 82643125 [A/G] NM_145018 C11orf82 EXON Missense_V249I exm944998 11 82643341 [G/C] NM_145018 C11orf82 EXON Missense_E321Q exm945005 11 82643561 [C/G] NM_145018 C11orf82 EXON Missense_S394W exm945013 11 82643760 [T/G] NM_145018 C11orf82 EXON Missense_R460S exm945028 11 82644299 [A/G] NM_145018 C11orf82 EXON Missense_N640S exm945029 11 82644314 [A/G] NM_145018 C11orf82 EXON Missense_S645N exm945036 11 82644445 [A/G] NM_145018 C11orf82 EXON Missense_I689V exm945038 11 82644524 [A/C] NM_145018 C11orf82 EXON Missense_E715A exm945039 11 82644557 [A/G] NM_145018 C11orf82 EXON Missense_D726G exm945043 11 82644649 [A/G] NM_145018 C11orf82 EXON Missense_D757N exm945053 11 82644904 [A/G] NM_145018 C11orf82 EXON Missense_V842I exm2274515 11 82645190 [A/G] NM_145018 C11orf82 EXON Missense_Y937C exm945063 11 82645246 [A/G] NM_145018 C11orf82 EXON Missense_A956T exm945080 11 82693395 [T/C] NM_014488 RAB30 EXON Missense_E142K exm945083 11 82698656 [T/C] NM_014488 RAB30 EXON Missense_S112G exm945100 11 82875309 [A/G] NM_015885 PCF11 EXON Missense_I190V exm945107 11 82876721 [T/C] NM_015885 PCF11 EXON Missense_I261T exm945108 11 82876726 [A/C] NM_015885 PCF11 EXON Missense_P263T exm945109 11 82876752 [C/G] NM_015885 PCF11 EXON Missense_Q271H exm945117 11 82877066 [A/C] NM_015885 PCF11 EXON Missense_N376T exm2250349 11 82877268 [T/C] NM_015885 PCF11 EXON Synonymous_A443A exm945120 11 82877296 [A/G] NM_015885 PCF11 EXON Missense_I453V exm945129 11 82877492 [T/C] NM_015885 PCF11 EXON Missense_A518V exm945131 11 82877507 [A/C] NM_015885 PCF11 EXON Missense_Q523P exm945150 11 82879476 [A/G] NM_015885 PCF11 EXON Missense_R700Q exm945163 11 82879869 [T/C] NM_015885 PCF11 EXON Missense_P831L exm945164 11 82879892 [A/G] NM_015885 PCF11 EXON Missense_G839S exm2250350 11 82879960 [T/C] NM_015885 PCF11 EXON Synonymous_G861G exm945167 11 82879960 [T/C] NM_015885 PCF11 EXON Synonymous_G861G exm945171 11 82880030 [T/C] NM_015885 PCF11 EXON Missense_P885S exm945175 11 82880157 [T/C] NM_015885 PCF11 EXON Missense_A927V exm945177 11 82880209 [C/G] NM_015885 PCF11 EXON Missense_E944D exm945180 11 82880258 [T/G] NM_015885 PCF11 EXON Missense_G961C exm945185 11 82880406 [T/G] NM_015885 PCF11 EXON Missense_G1010V exm945187 11 82880429 [G/C] NM_015885 PCF11 EXON Missense_L1018V exm945190 11 82880637 [T/G] NM_015885 PCF11 EXON Missense_F1087C exm945193 11 82880732 [T/C] NM_015885 PCF11 EXON Missense_H1119Y exm945194 11 82880733 [A/G] NM_015885 PCF11 EXON Missense_H1119R exm945216 11 82895721 [A/T] NM_015885 PCF11 EXON Missense_T1485S exm945218 11 82895826 [A/G] NM_015885 PCF11 EXON Missense_S1520G exm945237 11 82921406 [T/G] NM_182603 ANKRD42 EXON Missense_L104R exm945239 11 82921450 [T/C] NM_182603 ANKRD42 EXON Nonsense_R119X exm945246 11 82935963 [T/C] NM_182603 ANKRD42 EXON Missense_A190V exm945249 11 82935986 [A/G] NM_182603 ANKRD42 EXON Missense_N198D exm945252 11 82936046 [A/C] NM_182603 ANKRD42 EXON Missense_Q218K exm945257 11 82938790 [T/G] NM_182603 ANKRD42 EXON Synonymous_T235T exm945272 11 82951929 [C/G] NM_182603 ANKRD42 EXON Missense_A355G exm945274 11 82951977 [G/C] NM_182603 ANKRD42 Silent exm945285 11 82972960 [G/C] NM_021825 CCDC90B EXON Missense_W253S exm1740579 11 82976939 [C/G] NM_021825 CCDC90B EXON Missense_S226C exm945296 11 82976966 [A/G] NM_021825 CCDC90B EXON Missense_I217T exm945297 11 82976978 [A/G] NM_021825 CCDC90B EXON Missense_I213T exm945298 11 82984713 [T/C] NM_021825 CCDC90B EXON Missense_T191A exm945299 11 82984718 [A/G] NM_021825 CCDC90B EXON Missense_M189T exm945301 11 82984727 [T/C] NM_021825 CCDC90B EXON Missense_K186R exm945303 11 82984847 [T/C] NM_021825 CCDC90B EXON Missense_V177I exm2271532 11 82987208 [T/G] NM_021825 CCDC90B Silent exm945323 11 82991264 [T/C] NM_021825 CCDC90B EXON Missense_R47Q exm945329 11 82996969 [T/C] NM_021825 CCDC90B EXON Missense_G16E exm945331 11 82996986 [A/C] NM_021825 CCDC90B EXON Missense_F10L exm945332 11 82996991 [A/G] NM_021825 CCDC90B EXON Missense_L9F exm945333 11 82996999 [T/G] NM_021825 CCDC90B EXON Missense_A6D exm945334 11 82997002 [T/C] NM_021825 CCDC90B EXON Missense_Q5R exm2267199 11 83267970 [A/G] NM_001206769,NM_001364,NM_001142699,NM_001142702,NM_001142700 DLG2,DLG2,DLG2,DLG2,DLG2 Silent,Silent,Silent,Silent,Silent exm-rs3885683 11 83455707 [T/C] NM_001206769,NM_001364,NM_001142699,NM_001142700 DLG2,DLG2,DLG2,DLG2 Silent,Silent,Silent,Silent exm945378 11 83585476 [T/C] NM_001206769,NM_001364,NM_001142699,NM_001142700 DLG2,DLG2,DLG2,DLG2 EXON Missense_V452I,Missense_V413I,Missense_V518I,Missense_V310I exm945379 11 83585487 [A/G] NM_001206769,NM_001364,NM_001142699,NM_001142700 DLG2,DLG2,DLG2,DLG2 EXON Missense_L448P,Missense_L409P,Missense_L514P,Missense_L306P exm945381 11 83585505 [T/C] NM_001206769,NM_001364,NM_001142699,NM_001142700 DLG2,DLG2,DLG2,DLG2 EXON Missense_R442H,Missense_R403H,Missense_R508H,Missense_R300H exm945383 11 83585512 [T/C] NM_001206769,NM_001364,NM_001142699,NM_001142700 DLG2,DLG2,DLG2,DLG2 EXON Missense_A440T,Missense_A401T,Missense_A506T,Missense_A298T exm2274516 11 83641480 [A/G] NM_001206769,NM_001364,NM_001142699,NM_001142700 DLG2,DLG2,DLG2,DLG2 EXON Missense_P397S,Missense_P358S,Missense_P463S,Silent exm945389 11 83641521 [A/G] NM_001206769,NM_001364,NM_001142699,NM_001142700 DLG2,DLG2,DLG2,DLG2 EXON Missense_P383L,Missense_P344L,Missense_P449L,Silent exm2271630 11 83642842 [T/C] NM_001206769,NM_001364,NM_001142699,NM_001142700 DLG2,DLG2,DLG2,DLG2 Silent,Silent,Silent,Silent exm945391 11 83673931 [A/G] NM_001206769,NM_001364,NM_001142699,NM_001142700 DLG2,DLG2,DLG2,DLG2 EXON Missense_T380I,Missense_T341I,Missense_T446I,Missense_T290I exm945392 11 83673938 [T/C] NM_001206769,NM_001364,NM_001142699,NM_001142700 DLG2,DLG2,DLG2,DLG2 EXON Missense_D378N,Missense_D339N,Missense_D444N,Missense_D288N exm945414 11 83962281 [A/G] NM_001206769,NM_001364,NM_001142699,NM_001142700 DLG2,DLG2,DLG2,DLG2 EXON Synonymous_Y125Y,Synonymous_Y86Y,Synonymous_Y191Y,Silent exm2267200 11 83986071 [A/G] NM_001206769,NM_001364,NM_001142699 DLG2,DLG2,DLG2 Silent,Silent,Silent exm2259886 11 84146142 [T/C] NM_001364,NM_001142699 DLG2,DLG2 Silent,Silent exm945439 11 84245767 [T/C] NM_001364,NM_001142699 DLG2,DLG2 EXON Missense_R17Q,Missense_R122Q exm2250364 11 84379740 [T/C] NM_001364,NM_001142699 DLG2,DLG2 Silent,Silent exm-rs10501570 11 84417846 [T/C] NM_001364,NM_001142699 DLG2,DLG2 Silent,Silent exm-rs1452928 11 84822321 [C/G] NM_001142699 DLG2 Silent exm945446 11 84822734 [C/G] NM_001142699 DLG2 EXON Missense_P110A exm2271534 11 84840154 [T/C] NM_001142699 DLG2 Silent exm-rs10898392 11 85164751 [T/G] NM_001142699 DLG2 Silent exm945472 11 85342774 [T/C] NM_001256546,NM_001256547,NM_001193538,NM_001193537,NM_018480 TMEM126B,TMEM126B,TMEM126B,TMEM126B,TMEM126B EXON Missense_S12F,Silent,Missense_S12F,Missense_S22F,Missense_S42F exm945484 11 85345324 [A/G] NM_001256546,NM_001256547,NM_001193538,NM_001193537,NM_018480 TMEM126B,TMEM126B,TMEM126B,TMEM126B,TMEM126B Silent,Silent,Silent,Silent,Silent exm2271632 11 85346073 [T/C] NM_001256546,NM_001256547,NM_001193538,NM_001193537,NM_018480 TMEM126B,TMEM126B,TMEM126B,TMEM126B,TMEM126B Silent,Silent,Silent,Silent,Silent exm945491 11 85346779 [A/C] NM_001256546,NM_001256547,NM_001193538,NM_001193537,NM_018480 TMEM126B,TMEM126B,TMEM126B,TMEM126B,TMEM126B EXON Missense_P126T,Missense_P110T,Missense_P126T,Missense_P136T,Missense_P156T exm945502 11 85347173 [T/C] NM_001256546,NM_001256547,NM_001193538,NM_001193537,NM_018480 TMEM126B,TMEM126B,TMEM126B,TMEM126B,TMEM126B EXON Missense_A168V,Missense_A152V,Missense_A168V,Missense_A178V,Missense_A198V exm945504 11 85347215 [T/G] NM_001256546,NM_001256547,NM_001193538,NM_001193537,NM_018480 TMEM126B,TMEM126B,TMEM126B,TMEM126B,TMEM126B EXON Missense_G182V,Missense_G166V,Missense_G182V,Missense_G192V,Missense_G212V exm945507 11 85347268 [A/G] NM_001256546,NM_001256547,NM_001193538,NM_001193537,NM_018480 TMEM126B,TMEM126B,TMEM126B,TMEM126B,TMEM126B EXON Missense_E200K,Missense_E184K,Missense_E200K,Missense_E210K,Missense_E230K exm945516 11 85365174 [A/G] NM_001244735,NM_032273 TMEM126A,TMEM126A EXON Silent,Missense_S52G exm945518 11 85365211 [A/G] NM_001244735,NM_032273 TMEM126A,TMEM126A EXON Silent,Missense_R64H exm945526 11 85366671 [A/G] NM_001244735,NM_032273 TMEM126A,TMEM126A EXON Missense_R35Q,Missense_R105Q exm945538 11 85367519 [A/T] NM_001244735,NM_032273 TMEM126A,TMEM126A EXON Missense_S118T,Missense_S188T exm945576 11 85375739 [T/C] NM_001039618,NR_028025,NR_028026,NR_028027,NR_028024 CREBZF,CREBZF,CREBZF,CREBZF,CREBZF EXON Missense_G61R,Silent,Silent,Silent,Silent exm945586 11 85396084 [A/C] NM_152723 CCDC89 EXON Nonsense_E364X exm945590 11 85396150 [T/C] NM_152723 CCDC89 EXON Missense_D342N exm1741400 11 85396554 [A/C] NM_152723 CCDC89 EXON Missense_R207L exm945613 11 85396720 [T/C] NM_152723 CCDC89 EXON Missense_E152K exm945619 11 85396880 [A/C] NM_152723 CCDC89 EXON Missense_N98K exm945621 11 85396940 [T/G] NM_152723 CCDC89 EXON Nonsense_C78X exm945626 11 85396997 [G/C] NM_152723 CCDC89 EXON Missense_E59D exm945633 11 85406316 [A/C] NM_001162951,NM_001162952,NM_032943,NM_001162953,NM_206930,NM_032379,NM_206927,NM_206929,NM_206928 SYTL2,SYTL2,SYTL2,SYTL2,SYTL2,SYTL2,SYTL2,SYTL2,SYTL2 EXON Missense_K909N,Missense_K311N,Missense_K885N,Missense_K910N,Missense_K340N,Missense_K351N,Missense_K1247N,Missense_K351N,Missense_K1231N exm945634 11 85406318 [T/C] NM_001162951,NM_001162952,NM_032943,NM_001162953,NM_206930,NM_032379,NM_206927,NM_206929,NM_206928 SYTL2,SYTL2,SYTL2,SYTL2,SYTL2,SYTL2,SYTL2,SYTL2,SYTL2 EXON Missense_K909E,Missense_K311E,Missense_K885E,Missense_K910E,Missense_K340E,Missense_K351E,Missense_K1247E,Missense_K351E,Missense_K1231E exm945659 11 85420374 [A/G] NM_001162951,NM_001162952,NM_032943,NM_001162953,NM_206930,NM_032379,NM_206927,NM_206929,NM_206928 SYTL2,SYTL2,SYTL2,SYTL2,SYTL2,SYTL2,SYTL2,SYTL2,SYTL2 EXON Missense_P667L,Missense_P69L,Missense_P643L,Missense_P668L,Missense_P98L,Missense_P109L,Missense_P1005L,Missense_P109L,Missense_P989L exm945661 11 85420401 [A/G] NM_001162951,NM_001162952,NM_032943,NM_001162953,NM_206930,NM_032379,NM_206927,NM_206929,NM_206928 SYTL2,SYTL2,SYTL2,SYTL2,SYTL2,SYTL2,SYTL2,SYTL2,SYTL2 EXON Missense_A658V,Missense_A60V,Missense_A634V,Missense_A659V,Missense_A89V,Missense_A100V,Missense_A996V,Missense_A100V,Missense_A980V exm945663 11 85420420 [A/G] NM_001162951,NM_001162952,NM_032943,NM_001162953,NM_206930,NM_032379,NM_206927,NM_206929,NM_206928 SYTL2,SYTL2,SYTL2,SYTL2,SYTL2,SYTL2,SYTL2,SYTL2,SYTL2 EXON Missense_C652R,Missense_C54R,Missense_C628R,Missense_C653R,Missense_C83R,Missense_C94R,Missense_C990R,Missense_C94R,Missense_C974R exm945668 11 85420438 [C/G] NM_001162951,NM_001162952,NM_032943,NM_001162953,NM_206930,NM_032379,NM_206927,NM_206929,NM_206928 SYTL2,SYTL2,SYTL2,SYTL2,SYTL2,SYTL2,SYTL2,SYTL2,SYTL2 EXON Missense_H646D,Missense_H48D,Missense_H622D,Missense_H647D,Missense_H77D,Missense_H88D,Missense_H984D,Missense_H88D,Missense_H968D exm945670 11 85420542 [A/C] NM_001162951,NM_001162952,NM_032943,NM_001162953,NM_206930,NM_032379,NM_206927,NM_206929,NM_206928 SYTL2,SYTL2,SYTL2,SYTL2,SYTL2,SYTL2,SYTL2,SYTL2,SYTL2 EXON Missense_V611G,Missense_V13G,Missense_V587G,Missense_V612G,Missense_V42G,Missense_V53G,Missense_V949G,Missense_V53G,Missense_V933G exm945673 11 85422199 [A/G] NM_001162951,NM_001162952,NM_032943,NM_001162953,NM_206930,NM_032379,NM_206927,NM_206929,NM_206928 SYTL2,SYTL2,SYTL2,SYTL2,SYTL2,SYTL2,SYTL2,SYTL2,SYTL2 EXON Missense_L596S,Silent,Silent,Missense_L597S,Missense_L27S,Missense_L38S,Missense_L934S,Missense_L38S,Missense_L918S exm945675 11 85422216 [G/C] NM_001162951,NM_001162952,NM_032943,NM_001162953,NM_206930,NM_032379,NM_206927,NM_206929,NM_206928 SYTL2,SYTL2,SYTL2,SYTL2,SYTL2,SYTL2,SYTL2,SYTL2,SYTL2 EXON Missense_K590N,Silent,Silent,Missense_K591N,Missense_K21N,Missense_K32N,Missense_K928N,Missense_K32N,Missense_K912N exm945682 11 85431904 [A/G] NM_001162951,NM_032943,NM_001162953,NM_206927,NM_206928 SYTL2,SYTL2,SYTL2,SYTL2,SYTL2 EXON Missense_S520P,Missense_S520P,Missense_S521P,Missense_S842P,Missense_S842P exm945685 11 85431912 [A/G] NM_001162951,NM_032943,NM_001162953,NM_206927,NM_206928 SYTL2,SYTL2,SYTL2,SYTL2,SYTL2 EXON Missense_S517L,Missense_S517L,Missense_S518L,Missense_S839L,Missense_S839L exm1741445 11 85431952 [T/C] NM_001162951,NM_032943,NM_001162953,NM_206927,NM_206928 SYTL2,SYTL2,SYTL2,SYTL2,SYTL2 EXON Missense_A504T,Missense_A504T,Missense_A505T,Missense_A826T,Missense_A826T exm945687 11 85431954 [T/G] NM_001162951,NM_032943,NM_001162953,NM_206927,NM_206928 SYTL2,SYTL2,SYTL2,SYTL2,SYTL2 EXON Missense_A503D,Missense_A503D,Missense_A504D,Missense_A825D,Missense_A825D exm945691 11 85435134 [A/T] NM_001162951,NM_032943,NM_001162953,NM_206927,NM_206928 SYTL2,SYTL2,SYTL2,SYTL2,SYTL2 EXON Silent,Silent,Silent,Missense_E789V,Missense_E789V exm945698 11 85435357 [T/G] NM_001162951,NM_032943,NM_001162953,NM_206927,NM_206928 SYTL2,SYTL2,SYTL2,SYTL2,SYTL2 EXON Silent,Silent,Silent,Missense_P715T,Missense_P715T exm945703 11 85435407 [A/G] NM_001162951,NM_032943,NM_001162953,NM_206927,NM_206928 SYTL2,SYTL2,SYTL2,SYTL2,SYTL2 EXON Silent,Silent,Silent,Missense_P698L,Missense_P698L exm945710 11 85435624 [T/C] NM_001162951,NM_032943,NM_001162953,NM_206927,NM_206928 SYTL2,SYTL2,SYTL2,SYTL2,SYTL2 EXON Silent,Silent,Silent,Missense_E626K,Missense_E626K exm945713 11 85435648 [T/C] NM_001162951,NM_032943,NM_001162953,NM_206927,NM_206928 SYTL2,SYTL2,SYTL2,SYTL2,SYTL2 EXON Silent,Silent,Silent,Missense_V618M,Missense_V618M exm945715 11 85435698 [A/G] NM_001162951,NM_032943,NM_001162953,NM_206927,NM_206928 SYTL2,SYTL2,SYTL2,SYTL2,SYTL2 EXON Silent,Silent,Silent,Missense_F601S,Missense_F601S exm945716 11 85435718 [A/C] NM_001162951,NM_032943,NM_001162953,NM_206927,NM_206928 SYTL2,SYTL2,SYTL2,SYTL2,SYTL2 EXON Silent,Silent,Silent,Missense_E594D,Missense_E594D exm2250371 11 85435730 [T/C] NM_001162951,NM_032943,NM_001162953,NM_206927,NM_206928 SYTL2,SYTL2,SYTL2,SYTL2,SYTL2 EXON Silent,Silent,Silent,Synonymous_P590P,Synonymous_P590P exm945717 11 85435730 [T/C] NM_001162951,NM_032943,NM_001162953,NM_206927,NM_206928 SYTL2,SYTL2,SYTL2,SYTL2,SYTL2 EXON Silent,Silent,Silent,Synonymous_P590P,Synonymous_P590P exm945718 11 85435734 [C/G] NM_001162951,NM_032943,NM_001162953,NM_206927,NM_206928 SYTL2,SYTL2,SYTL2,SYTL2,SYTL2 EXON Silent,Silent,Silent,Missense_A589G,Missense_A589G exm2276882 11 85435792 [A/G] NM_001162951,NM_032943,NM_001162953,NM_206927,NM_206928 SYTL2,SYTL2,SYTL2,SYTL2,SYTL2 EXON Silent,Silent,Silent,Nonsense_R570X,Nonsense_R570X exm945724 11 85435815 [A/G] NM_001162951,NM_032943,NM_001162953,NM_206927,NM_206928 SYTL2,SYTL2,SYTL2,SYTL2,SYTL2 EXON Silent,Silent,Silent,Missense_I562T,Missense_I562T exm945728 11 85435852 [A/C] NM_001162951,NM_032943,NM_001162953,NM_206927,NM_206928 SYTL2,SYTL2,SYTL2,SYTL2,SYTL2 EXON Silent,Silent,Silent,Nonsense_E550X,Nonsense_E550X exm1741454 11 85436022 [A/G] NM_001162951,NM_032943,NM_001162953,NM_206927,NM_206928 SYTL2,SYTL2,SYTL2,SYTL2,SYTL2 EXON Silent,Silent,Silent,Missense_T493M,Missense_T493M exm945747 11 85436352 [A/G] NM_001162951,NM_032943,NM_001162953,NM_206927,NM_206928 SYTL2,SYTL2,SYTL2,SYTL2,SYTL2 EXON Silent,Silent,Silent,Missense_T383M,Missense_T383M exm945752 11 85436433 [A/T] NM_001162951,NM_032943,NM_001162953,NM_206927,NM_206928 SYTL2,SYTL2,SYTL2,SYTL2,SYTL2 EXON Silent,Silent,Silent,Missense_D356V,Missense_D356V exm945754 11 85436500 [T/C] NM_001162951,NM_032943,NM_001162953,NM_206927,NM_206928 SYTL2,SYTL2,SYTL2,SYTL2,SYTL2 EXON Silent,Silent,Silent,Missense_M334V,Missense_M334V exm945765 11 85436715 [T/G] NM_001162951,NM_032943,NM_001162953,NM_206927,NM_206928 SYTL2,SYTL2,SYTL2,SYTL2,SYTL2 EXON Silent,Silent,Silent,Missense_Q262P,Missense_Q262P exm945768 11 85436785 [A/G] NM_001162951,NM_032943,NM_001162953,NM_206927,NM_206928 SYTL2,SYTL2,SYTL2,SYTL2,SYTL2 EXON Silent,Silent,Silent,Missense_R239W,Missense_R239W exm945781 11 85437091 [T/C] NM_001162951,NM_032943,NM_001162953,NM_206927,NM_206928 SYTL2,SYTL2,SYTL2,SYTL2,SYTL2 EXON Silent,Silent,Silent,Missense_K137E,Missense_K137E exm945788 11 85437226 [T/C] NM_001162951,NM_032943,NM_001162953,NM_206927,NM_206928 SYTL2,SYTL2,SYTL2,SYTL2,SYTL2 EXON Silent,Silent,Silent,Missense_I92V,Missense_I92V exm945790 11 85437264 [A/G] NM_001162951,NM_032943,NM_001162953,NM_206927,NM_206928 SYTL2,SYTL2,SYTL2,SYTL2,SYTL2 EXON Silent,Silent,Silent,Missense_M79T,Missense_M79T exm945794 11 85437328 [T/C] NM_001162951,NM_032943,NM_001162953,NM_206927,NM_206928 SYTL2,SYTL2,SYTL2,SYTL2,SYTL2 EXON Silent,Silent,Silent,Missense_D58N,Missense_D58N exm945799 11 85437405 [T/C] NM_001162951,NM_032943,NM_001162953,NM_206927,NM_206928 SYTL2,SYTL2,SYTL2,SYTL2,SYTL2 EXON Silent,Silent,Silent,Missense_D32G,Missense_D32G exm945802 11 85437499 [T/C] NM_001162951,NM_032943,NM_001162953,NM_206927,NM_206928 SYTL2,SYTL2,SYTL2,SYTL2,SYTL2 EXON Silent,Silent,Silent,Missense_M1V,Missense_M1V exm945808 11 85438948 [A/G] NM_001162951,NM_032943,NM_001162953 SYTL2,SYTL2,SYTL2 EXON Missense_R484C,Missense_R484C,Missense_R485C exm945809 11 85438981 [C/G] NM_001162951,NM_032943,NM_001162953 SYTL2,SYTL2,SYTL2 EXON Missense_P473A,Missense_P473A,Missense_P474A exm945823 11 85445098 [A/G] NM_001162951,NM_032943,NM_001162953 SYTL2,SYTL2,SYTL2 EXON Missense_S424L,Missense_S424L,Missense_S425L exm945825 11 85445236 [T/C] NM_001162951,NM_032943,NM_001162953 SYTL2,SYTL2,SYTL2 EXON Missense_Q378R,Missense_Q378R,Missense_Q379R exm945827 11 85445311 [A/G] NM_001162951,NM_032943,NM_001162953 SYTL2,SYTL2,SYTL2 EXON Missense_V353A,Missense_V353A,Missense_V354A exm945832 11 85445365 [G/C] NM_001162951,NM_032943,NM_001162953 SYTL2,SYTL2,SYTL2 EXON Missense_S335C,Missense_S335C,Missense_S336C exm945834 11 85445453 [T/C] NM_001162951,NM_032943,NM_001162953 SYTL2,SYTL2,SYTL2 EXON Missense_I306V,Missense_I306V,Missense_I307V exm2274518 11 85445492 [A/C] NM_001162951,NM_032943,NM_001162953 SYTL2,SYTL2,SYTL2 EXON Missense_F293V,Missense_F293V,Missense_F294V exm945836 11 85445506 [T/C] NM_001162951,NM_032943,NM_001162953 SYTL2,SYTL2,SYTL2 EXON Missense_R288H,Missense_R288H,Missense_R289H exm945841 11 85445635 [A/G] NM_001162951,NM_032943,NM_001162953 SYTL2,SYTL2,SYTL2 EXON Missense_T245I,Missense_T245I,Missense_T246I exm945842 11 85445638 [A/G] NM_001162951,NM_032943,NM_001162953 SYTL2,SYTL2,SYTL2 EXON Missense_S244L,Missense_S244L,Missense_S245L exm945844 11 85445650 [A/G] NM_001162951,NM_032943,NM_001162953 SYTL2,SYTL2,SYTL2 EXON Missense_M240T,Missense_M240T,Missense_M241T exm945845 11 85445669 [T/A] NM_001162951,NM_032943,NM_001162953 SYTL2,SYTL2,SYTL2 EXON Missense_I234F,Missense_I234F,Missense_I235F exm945851 11 85445734 [T/C] NM_001162951,NM_032943,NM_001162953 SYTL2,SYTL2,SYTL2 EXON Missense_Q212R,Missense_Q212R,Missense_Q213R exm945865 11 85447657 [T/C] NM_001162951,NM_032943,NM_001162953 SYTL2,SYTL2,SYTL2 EXON Silent,Silent,Missense_Q158R exm945868 11 85448679 [A/G] NM_001162951,NM_032943,NM_001162953 SYTL2,SYTL2,SYTL2 EXON Missense_A137V,Missense_A137V,Missense_A137V exm945879 11 85459399 [T/C] NM_001162951,NM_032943,NM_001162953 SYTL2,SYTL2,SYTL2 EXON Missense_A57T,Missense_A57T,Missense_A57T exm945882 11 85468708 [A/G] NM_001162951,NM_032943,NM_001162953 SYTL2,SYTL2,SYTL2 EXON Missense_R21W,Missense_R21W,Missense_R21W exm945885 11 85576197 [A/G] NM_173556 CCDC83 EXON Missense_D11N exm945886 11 85576209 [A/G] NM_173556 CCDC83 EXON Missense_G15R exm2264432 11 85579304 [A/C] NM_173556 CCDC83 Silent exm945888 11 85584303 [A/G] NM_173556 CCDC83 EXON Missense_T49A exm945894 11 85593592 [T/C] NM_173556 CCDC83 EXON Missense_R73W exm945897 11 85593699 [A/C] NM_173556 CCDC83 EXON Missense_D108E exm945912 11 85622346 [T/C] NM_173556 CCDC83 EXON Missense_V232A exm945913 11 85622358 [A/G] NM_173556 CCDC83 EXON Missense_K236R exm945914 11 85622367 [T/C] NM_173556 CCDC83 EXON Missense_I239T exm945917 11 85622439 [T/C] NM_173556 CCDC83 EXON Missense_I263T exm945920 11 85623778 [A/G] NM_173556 CCDC83 EXON Missense_R294H exm945925 11 85627095 [T/C] NM_173556 CCDC83 EXON Missense_T331I exm945929 11 85627146 [T/C] NM_173556 CCDC83 EXON Missense_L348S exm945934 11 85627196 [G/C] NM_173556 CCDC83 EXON Missense_D365H exm945941 11 85630411 [T/C] NM_173556 CCDC83 EXON Missense_P398L exm945943 11 85630528 [A/G] NM_173556 CCDC83 EXON Missense_Y437C exm945953 11 85687706 [A/T] NM_001008660,NM_001206946,NM_001206947,NM_007166 PICALM,PICALM,PICALM,PICALM EXON Missense_Y558F,Missense_Y593F,Missense_Y499F,Missense_Y600F exm945971 11 85701307 [T/C] NM_001008660,NM_001206946,NM_001206947,NM_007166 PICALM,PICALM,PICALM,PICALM EXON Silent,Missense_H458R,Silent,Missense_H465R exm945972 11 85701340 [T/C] NM_001008660,NM_001206946,NM_001206947,NM_007166 PICALM,PICALM,PICALM,PICALM EXON Silent,Missense_D447G,Silent,Missense_D454G exm945981 11 85711726 [A/G] NM_001008660,NM_001206946,NM_001206947,NM_007166 PICALM,PICALM,PICALM,PICALM EXON Missense_P372S,Missense_P372S,Missense_P321S,Missense_P372S exm946021 11 85779721 [G/C] NM_001008660,NM_001206946,NM_001206947,NM_007166 PICALM,PICALM,PICALM,PICALM EXON Missense_I34M,Missense_I34M,Silent,Missense_I34M exm-rs536841 11 85787824 [T/C] exm-rs561655 11 85800279 [A/G] exm-rs3851179 11 85868640 [T/C] exm2259893 11 85905715 [A/G] exm946031 11 85956316 [T/G] NM_003797,NM_152991 EED,EED EXON Missense_M15I,Missense_M15I exm946038 11 85961371 [A/C] NM_003797,NM_152991 EED,EED EXON Missense_T50P,Missense_T50P exm946046 11 85967534 [A/G] NM_003797,NM_152991 EED,EED EXON Missense_I178V,Missense_I178V exm946083 11 86017386 [A/G] NR_024598,NM_016401,NR_024597,NR_024596 C11orf73,C11orf73,C11orf73,C11orf73 EXON Silent,Missense_I44V,Silent,Silent exm946091 11 86048463 [A/G] NR_024598,NM_016401,NR_024597,NR_024596 C11orf73,C11orf73,C11orf73,C11orf73 EXON Silent,Missense_R104Q,Silent,Silent exm-rs6592284 11 86055901 [T/C] NR_024598,NM_016401,NR_024597,NR_024596 C11orf73,C11orf73,C11orf73,C11orf73 Silent,Silent,Silent,Silent exm2267201 11 86082402 [A/G] exm946123 11 86103702 [A/G] NM_021827,NM_001156474 CCDC81,CCDC81 EXON Silent,Missense_M140V exm946131 11 86106413 [A/C] NM_021827,NM_001156474 CCDC81,CCDC81 EXON Missense_E108A,Missense_E198A exm946141 11 86111720 [A/C] NM_021827,NM_001156474 CCDC81,CCDC81 EXON Missense_D163A,Missense_D253A exm946143 11 86111734 [A/C] NM_021827,NM_001156474 CCDC81,CCDC81 EXON Missense_K168Q,Missense_K258Q exm946148 11 86111834 [A/C] NM_021827,NM_001156474 CCDC81,CCDC81 EXON Missense_T201N,Missense_T291N exm946151 11 86118683 [A/C] NM_021827,NM_001156474 CCDC81,CCDC81 EXON Missense_H213Q,Missense_H303Q exm946155 11 86119193 [T/C] NM_021827,NM_001156474 CCDC81,CCDC81 EXON Nonsense_R242X,Nonsense_R332X exm946158 11 86119307 [T/C] NM_021827,NM_001156474 CCDC81,CCDC81 EXON Missense_H280Y,Missense_H370Y exm946165 11 86123451 [A/G] NM_021827,NM_001156474 CCDC81,CCDC81 EXON Missense_R324Q,Missense_R414Q exm946172 11 86123537 [A/G] NM_021827,NM_001156474 CCDC81,CCDC81 EXON Missense_E353K,Missense_E443K exm946174 11 86123556 [A/G] NM_021827,NM_001156474 CCDC81,CCDC81 EXON Missense_Y359C,Missense_Y449C exm1741928 11 86123573 [A/C] NM_021827,NM_001156474 CCDC81,CCDC81 EXON Missense_R365S,Missense_R455S exm946185 11 86126163 [A/C] NM_021827,NM_001156474 CCDC81,CCDC81 EXON Missense_P410H,Missense_P500H exm946192 11 86126317 [C/G] NM_021827,NM_001156474 CCDC81,CCDC81 EXON Missense_Q461H,Missense_Q551H exm946195 11 86126337 [T/G] NM_021827,NM_001156474 CCDC81,CCDC81 EXON Missense_L468R,Missense_L558R exm946199 11 86131002 [A/G] NM_021827,NM_001156474 CCDC81,CCDC81 EXON Missense_R485Q,Missense_R575Q exm946203 11 86131094 [T/C] NM_021827,NM_001156474 CCDC81,CCDC81 EXON Missense_R516W,Missense_R606W exm946206 11 86133660 [C/G] NM_021827,NM_001156474 CCDC81,CCDC81 EXON Missense_R531P,Missense_R621P exm1741941 11 86133679 [C/G] NM_021827,NM_001156474 CCDC81,CCDC81 EXON Missense_Q537H,Missense_Q627H exm946210 11 86133743 [T/C] NM_021827,NM_001156474 CCDC81,CCDC81 EXON Missense_R559W,Missense_R649W exm946224 11 86157366 [A/G] NM_001014811,NM_006680,NM_001161586 ME3,ME3,ME3 EXON Missense_L515P,Missense_L515P,Missense_L515P exm946225 11 86157403 [T/C] NM_001014811,NM_006680,NM_001161586 ME3,ME3,ME3 EXON Missense_G503S,Missense_G503S,Missense_G503S exm1741982 11 86158231 [T/C] NM_001014811,NM_006680,NM_001161586 ME3,ME3,ME3 EXON Missense_G419E,Missense_G419E,Missense_G419E exm946243 11 86158235 [T/C] NM_001014811,NM_006680,NM_001161586 ME3,ME3,ME3 EXON Missense_A418T,Missense_A418T,Missense_A418T exm946252 11 86160961 [T/C] NM_001014811,NM_006680,NM_001161586 ME3,ME3,ME3 EXON Nonsense_W367X,Nonsense_W367X,Nonsense_W367X exm946255 11 86160989 [A/G] NM_001014811,NM_006680,NM_001161586 ME3,ME3,ME3 EXON Missense_P358L,Missense_P358L,Missense_P358L exm946261 11 86161388 [C/G] NM_001014811,NM_006680,NM_001161586 ME3,ME3,ME3 EXON Missense_K324N,Missense_K324N,Missense_K324N exm946268 11 86176168 [T/C] NM_001014811,NM_006680,NM_001161586 ME3,ME3,ME3 EXON Missense_R295H,Missense_R295H,Missense_R295H exm946274 11 86209022 [T/C] NM_001014811,NM_006680,NM_001161586 ME3,ME3,ME3 EXON Missense_V230I,Missense_V230I,Missense_V230I exm2219578 11 86219864 [T/C] NM_001014811,NM_006680,NM_001161586 ME3,ME3,ME3 EXON Missense_M171I,Missense_M171I,Missense_M171I exm946289 11 86267626 [A/G] NM_001014811,NM_006680,NM_001161586 ME3,ME3,ME3 EXON Nonsense_Q146X,Nonsense_Q146X,Nonsense_Q146X exm2250378 11 86267678 [A/G] NM_001014811,NM_006680,NM_001161586 ME3,ME3,ME3 EXON Synonymous_D128D,Synonymous_D128D,Synonymous_D128D exm946294 11 86267678 [A/G] NM_001014811,NM_006680,NM_001161586 ME3,ME3,ME3 EXON Synonymous_D128D,Synonymous_D128D,Synonymous_D128D exm2267202 11 86414027 [A/G] exm946310 11 86518714 [T/G] NM_007173 PRSS23 EXON Missense_L10R exm946320 11 86518851 [A/G] NM_007173 PRSS23 EXON Missense_E56K exm946327 11 86518963 [A/G] NM_007173 PRSS23 EXON Missense_N93S exm946332 11 86519070 [A/C] NM_007173 PRSS23 EXON Missense_Q129K exm946343 11 86519296 [A/G] NM_007173 PRSS23 EXON Missense_R204Q exm946352 11 86519385 [A/G] NM_007173 PRSS23 EXON Missense_I234V exm946356 11 86519468 [A/G] NM_007173 PRSS23 EXON Missense_M261I exm946363 11 86519727 [A/C] NM_007173 PRSS23 EXON Missense_M348L exm946366 11 86519801 [A/G] NM_007173 PRSS23 EXON Nonsense_W372X exm1742274 11 86662209 [T/C] NM_012193 FZD4 EXON Missense_G530E exm946372 11 86662231 [G/C] NM_012193 FZD4 EXON Missense_G523R exm2219582 11 86662393 [T/C] NM_012193 FZD4 EXON Missense_A469T exm946381 11 86662416 [T/C] NM_012193 FZD4 EXON Missense_N461S exm946395 11 86663032 [T/C] NM_012193 FZD4 EXON Missense_I256V exm946401 11 86663296 [A/G] NM_012193 FZD4 EXON Missense_P168S exm946402 11 86663341 [T/C] NM_012193 FZD4 EXON Missense_D153N exm946420 11 86665923 [A/G] NM_012193 FZD4 EXON Missense_H69Y exm946422 11 86666010 [C/G] NM_012193 FZD4 EXON Missense_E40Q exm946424 11 86666031 [A/G] NM_012193 FZD4 EXON Missense_P33S exm946437 11 86749113 [G/C] NM_022918,NM_001168724,NR_033149 TMEM135,TMEM135,TMEM135 EXON Missense_P9R,Missense_P9R,Silent exm2267203 11 86835374 [A/G] NM_022918,NM_001168724,NR_033149 TMEM135,TMEM135,TMEM135 Silent,Silent,Silent exm2267280 11 86920178 [A/G] NM_022918,NM_001168724,NR_033149 TMEM135,TMEM135,TMEM135 Silent,Silent,Silent exm946468 11 87013366 [A/G] NM_022918,NM_001168724,NR_033149 TMEM135,TMEM135,TMEM135 EXON Missense_T194A,Missense_T172A,Silent exm946470 11 87013393 [T/C] NM_022918,NM_001168724,NR_033149 TMEM135,TMEM135,TMEM135 EXON Missense_Y203H,Missense_Y181H,Silent exm946479 11 87017001 [A/G] NM_022918,NM_001168724,NR_033149 TMEM135,TMEM135,TMEM135 EXON Missense_R241K,Missense_R219K,Silent exm946485 11 87020661 [A/G] NM_022918,NM_001168724,NR_033149 TMEM135,TMEM135,TMEM135 EXON Missense_K295E,Missense_K273E,Silent exm946495 11 87029263 [A/G] NM_022918,NM_001168724,NR_033149 TMEM135,TMEM135,TMEM135 EXON Missense_I388V,Missense_I366V,Silent exm946500 11 87032287 [G/C] NM_022918,NM_001168724,NR_033149 TMEM135,TMEM135,TMEM135 EXON Missense_G430A,Missense_G408A,Silent exm2264433 11 87222624 [A/C] exm2271633 11 87597790 [T/C] exm2267204 11 87664122 [A/G] exm-rs1386330 11 87819427 [T/C] exm946505 11 87847206 [A/G] NM_022337 RAB38 EXON Missense_H196Y exm946506 11 87847209 [T/G] NM_022337 RAB38 EXON Missense_P195T exm946509 11 87847235 [T/C] NM_022337 RAB38 EXON Missense_E186G exm946514 11 87882875 [T/C] NM_022337 RAB38 EXON Missense_G151S exm946519 11 87882971 [A/G] NM_022337 RAB38 EXON Missense_P119S exm946523 11 87883040 [A/C] NM_022337 RAB38 EXON Missense_A96S exm946534 11 87908411 [A/G] NM_022337 RAB38 EXON Missense_L48F exm946535 11 87908429 [T/C] NM_022337 RAB38 EXON Missense_I42V exm946545 11 88027209 [T/C] NM_001814 CTSC EXON Missense_I453V exm946546 11 88027242 [A/G] NM_001814 CTSC EXON Missense_R442C exm946551 11 88027277 [T/C] NM_001814 CTSC EXON Missense_G430D exm946554 11 88027365 [T/C] NM_001814 CTSC EXON Missense_E401K exm946584 11 88045583 [A/G] NM_001814 CTSC EXON Missense_I153T exm946603 11 88068160 [T/C] NM_001814,NM_148170,NM_001114173 CTSC,CTSC,CTSC EXON Missense_Y88C,Missense_Y88C,Missense_Y88C exm2267205 11 88158865 [A/G] exm946617 11 88241800 [A/G] NM_000842,NR_049724,NM_001143831 GRM5,GRM5-AS1,GRM5 EXON Missense_L1168P,Silent,Missense_L1200P exm946658 11 88300327 [T/C] NM_000842,NM_001143831 GRM5,GRM5 EXON Missense_V842M,Missense_V842M exm946674 11 88300726 [T/C] NM_000842,NM_001143831 GRM5,GRM5 EXON Missense_V709I,Missense_V709I exm-rs16914280 11 88321724 [T/C] NM_000842,NM_001143831 GRM5,GRM5 Silent,Silent exm946691 11 88337922 [A/G] NM_000842,NM_001143831 GRM5,GRM5 EXON Missense_T453M,Missense_T453M exm2267281 11 88353802 [A/G] NM_000842,NM_001143831 GRM5,GRM5 Silent,Silent exm946703 11 88386336 [T/C] NM_000842,NM_001143831 GRM5,GRM5 EXON Missense_S383G,Missense_S383G exm-rs10831496 11 88557991 [A/G] NM_000842,NM_001143831 GRM5,GRM5 Silent,Silent exm2250395 11 88883499 [A/G] exm946762 11 88911169 [T/C] NM_000372 TYR EXON Synonymous_S16S exm2250396 11 88911169 [T/C] NM_000372 TYR EXON Synonymous_S16S exm946770 11 88911255 [T/C] NM_000372 TYR EXON Missense_P45L exm946774 11 88911351 [A/G] NM_000372 TYR EXON Missense_R77Q exm946792 11 88911696 [A/C] NM_000372 TYR EXON Missense_S192Y exm946799 11 88911770 [T/C] NM_000372 TYR EXON Missense_R217W exm946800 11 88911771 [A/G] NM_000372 TYR EXON Missense_R217Q exm946802 11 88911786 [T/C] NM_000372 TYR EXON Missense_I222T exm946809 11 88924373 [T/G] NM_000372 TYR EXON Missense_V275F exm946814 11 88924392 [A/G] NM_000372 TYR EXON Missense_E281G exm946819 11 88924465 [A/C] NM_000372 TYR EXON Missense_D305E exm946826 11 88961018 [T/C] NM_000372 TYR EXON Missense_A355V exm946830 11 88961072 [A/C] NM_000372 TYR EXON Missense_T373K exm-rs1393350 11 89011046 [A/G] NM_000372 TYR Silent exm946837 11 89017961 [A/G] NM_000372 TYR EXON Missense_R402Q exm946874 11 89069094 [T/C] NM_016931,NR_026571,NM_001143837,NM_001143836 NOX4,NOX4,NOX4,NOX4 EXON Missense_Y512C,Silent,Missense_Y488C,Missense_Y472C exm946881 11 89073269 [A/G] NM_016931,NR_026571,NM_001143837,NM_001143836 NOX4,NOX4,NOX4,NOX4 EXON Missense_R470C,Silent,Missense_R446C,Missense_R430C exm946899 11 89106599 [T/C] NM_016931,NR_026571,NM_001143837,NM_001143836 NOX4,NOX4,NOX4,NOX4 Silent,Silent,Silent,Silent exm946906 11 89133449 [T/C] NM_016931,NR_026571,NM_001143837,NM_001143836 NOX4,NOX4,NOX4,NOX4 EXON Missense_M315I,Silent,Missense_M291I,Missense_M315I exm946909 11 89135492 [A/G] NM_016931,NR_026571,NM_001143837,NM_001143836 NOX4,NOX4,NOX4,NOX4 Silent,Silent,Silent,Silent exm2267207 11 89143306 [A/G] NM_016931,NR_026571,NM_001143837,NM_001143836 NOX4,NOX4,NOX4,NOX4 Silent,Silent,Silent,Silent exm946932 11 89177310 [T/C] NM_016931,NR_026571,NM_001143837,NM_001143836 NOX4,NOX4,NOX4,NOX4 EXON Missense_R147Q,Silent,Missense_R123Q,Missense_R147Q exm946935 11 89182609 [T/C] NM_016931,NR_026571,NM_001143837,NM_001143836 NOX4,NOX4,NOX4,NOX4 EXON Synonymous_S116S,Silent,Synonymous_S92S,Synonymous_S116S exm946938 11 89182652 [T/C] NM_016931,NR_026571,NM_001143837,NM_001143836 NOX4,NOX4,NOX4,NOX4 EXON Missense_R102K,Silent,Missense_R78K,Missense_R102K exm946939 11 89182666 [A/C] NM_016931,NR_026571,NM_001143837,NM_001143836 NOX4,NOX4,NOX4,NOX4 EXON Missense_L97F,Silent,Missense_L73F,Missense_L97F exm946941 11 89182686 [T/C] NM_016931,NR_026571,NM_001143837,NM_001143836 NOX4,NOX4,NOX4,NOX4 EXON Missense_S91G,Silent,Missense_S67G,Missense_S91G exm2267282 11 89228425 [A/G] NM_001143837 NOX4 Silent exm-rs1488902 11 89345025 [T/C] exm946984 11 89413795 [T/C] NM_153696 FOLH1B EXON Missense_V156A exm946987 11 89413837 [T/C] NM_153696 FOLH1B EXON Missense_T170I exm946991 11 89420607 [A/G] NM_153696 FOLH1B Silent exm947024 11 89431669 [A/G] NM_153696 FOLH1B EXON Missense_V411M exm947029 11 89443507 [T/C] NM_001146162,NM_001271942 TRIM77,TRIM77 EXON Missense_T14I,Missense_T14I exm947032 11 89447375 [T/C] NM_001146162,NM_001271942 TRIM77,TRIM77 EXON Missense_R175W,Silent exm2219609 11 89768564 [T/G] NM_001195234 TRIM49C EXON Missense_I62R exm947225 11 89867964 [A/G] NM_005467 NAALAD2 EXON Missense_C13Y exm947231 11 89868772 [A/G] NM_005467 NAALAD2 EXON Missense_Y43C exm-rs11018874 11 89875437 [A/G] NM_005467 NAALAD2 Silent exm947240 11 89880604 [A/G] NM_005467 NAALAD2 EXON Missense_V101I exm947246 11 89883708 [A/G] NM_005467 NAALAD2 EXON Missense_E181G exm947247 11 89883726 [T/C] NM_005467 NAALAD2 EXON Missense_T187I exm947250 11 89885467 [T/C] NM_005467 NAALAD2 EXON Missense_V204A exm-rs4268468 11 89886284 [A/G] NM_005467 NAALAD2 Silent exm947258 11 89891354 [T/C] NM_005467 NAALAD2 EXON Missense_P280S exm2274522 11 89891396 [A/C] NM_005467 NAALAD2 EXON Missense_I294L exm2271535 11 89892250 [T/G] NM_005467 NAALAD2 Silent exm947270 11 89896199 [A/C] NM_005467 NAALAD2 EXON Missense_P358T exm2271634 11 89896457 [T/C] NM_005467 NAALAD2 Silent exm947274 11 89896537 [A/G] NM_005467 NAALAD2 EXON Missense_T379A exm947276 11 89896570 [T/C] NM_005467 NAALAD2 EXON Missense_R390W exm947287 11 89902154 [A/G] NM_005467 NAALAD2 EXON Missense_I446V exm947306 11 89911231 [T/C] NM_005467 NAALAD2 EXON Missense_Y602H exm947308 11 89911282 [T/C] NM_005467 NAALAD2 EXON Missense_F619L exm947313 11 89914851 [T/C] NM_005467 NAALAD2 EXON Missense_I641T exm947327 11 89924790 [A/G] NM_005467 NAALAD2 EXON Missense_D700N exm947328 11 89924806 [T/C] NM_005467 NAALAD2 EXON Missense_I705T exm947333 11 89935586 [T/G] NM_001144073,NM_012124 CHORDC1,CHORDC1 EXON Missense_A310D,Missense_A329D exm947362 11 89947246 [A/G] NM_001144073,NM_012124 CHORDC1,CHORDC1 EXON Missense_P71L,Missense_P90L exm2250404 11 89951315 [A/G] NM_001144073,NM_012124 CHORDC1,CHORDC1 EXON Synonymous_H34H,Synonymous_H34H exm2259903 11 90562153 [T/C] exm-rs12274302 11 90586900 [T/C] exm2267208 11 90646272 [A/G] exm-rs1528753 11 90884339 [A/C] exm-rs7951829 11 91178089 [T/C] exm2271537 11 91260969 [T/C] exm2267283 11 91272582 [A/G] exm2259907 11 91873636 [A/G] exm-rs1350445 11 91952154 [A/G] exm947417 11 92086264 [A/G] NM_001008781 FAT3 EXON Missense_R329K exm947427 11 92086431 [A/G] NM_001008781 FAT3 EXON Missense_I385V exm947432 11 92086511 [A/C] NM_001008781 FAT3 EXON Missense_L411F exm947433 11 92086513 [T/C] NM_001008781 FAT3 EXON Missense_S412F exm947452 11 92086828 [T/C] NM_001008781 FAT3 EXON Missense_L517S exm947461 11 92087087 [C/G] NM_001008781 FAT3 EXON Missense_I603M exm947463 11 92087152 [A/G] NM_001008781 FAT3 EXON Missense_Y625C exm947476 11 92087587 [T/C] NM_001008781 FAT3 EXON Missense_T770M exm947479 11 92087676 [T/A] NM_001008781 FAT3 EXON Missense_N800Y exm947482 11 92087725 [T/C] NM_001008781 FAT3 EXON Missense_L816P exm947490 11 92087959 [A/G] NM_001008781 FAT3 EXON Missense_R894Q exm947491 11 92087974 [A/G] NM_001008781 FAT3 EXON Missense_N899S exm2219620 11 92087987 [A/C] NM_001008781 FAT3 EXON Missense_K903N exm947494 11 92088151 [T/C] NM_001008781 FAT3 EXON Missense_L958P exm947502 11 92088309 [T/C] NM_001008781 FAT3 EXON Missense_R1011W exm947512 11 92088546 [A/T] NM_001008781 FAT3 EXON Missense_R1090W exm947521 11 92257962 [T/C] NM_001008781 FAT3 EXON Missense_I1152T exm947527 11 92258103 [A/G] NM_001008781 FAT3 EXON Missense_N1199S exm2271539 11 92316799 [T/G] NM_001008781 FAT3 Silent exm947554 11 92507220 [C/G] NM_001008781 FAT3 EXON Missense_D1403E exm947555 11 92507224 [A/G] NM_001008781 FAT3 EXON Missense_A1405T exm947560 11 92507256 [T/G] NM_001008781 FAT3 EXON Missense_I1415M exm947565 11 92523207 [T/G] NM_001008781 FAT3 EXON Missense_E1478D exm947568 11 92523266 [A/G] NM_001008781 FAT3 EXON Missense_H1498R exm947570 11 92523322 [A/G] NM_001008781 FAT3 EXON Missense_V1517M exm947573 11 92523371 [T/C] NM_001008781 FAT3 EXON Missense_I1533T exm947578 11 92526021 [C/G] NM_001008781 FAT3 EXON Missense_T1567S exm947589 11 92531151 [T/C] NM_001008781 FAT3 EXON Missense_R1658C exm947592 11 92531256 [A/G] NM_001008781 FAT3 EXON Missense_I1693V exm947597 11 92531356 [A/G] NM_001008781 FAT3 EXON Missense_Q1726R exm947600 11 92531377 [A/G] NM_001008781 FAT3 EXON Missense_R1733H exm947603 11 92531446 [A/G] NM_001008781 FAT3 EXON Missense_N1756S exm947611 11 92531778 [A/G] NM_001008781 FAT3 EXON Missense_V1867I exm947612 11 92531790 [A/G] NM_001008781 FAT3 EXON Missense_I1871V exm947619 11 92532000 [A/G] NM_001008781 FAT3 EXON Missense_I1941V exm2219625 11 92532126 [A/G] NM_001008781 FAT3 EXON Missense_T1983A exm947628 11 92532352 [A/G] NM_001008781 FAT3 EXON Missense_R2058H exm1743196 11 92532370 [A/G] NM_001008781 FAT3 EXON Missense_R2064H exm947635 11 92532477 [A/G] NM_001008781 FAT3 EXON Missense_G2100R exm947643 11 92532774 [A/G] NM_001008781 FAT3 EXON Missense_I2199V exm947652 11 92533057 [A/G] NM_001008781 FAT3 EXON Missense_N2293S exm947655 11 92533232 [T/G] NM_001008781 FAT3 EXON Missense_M2351I exm947656 11 92533254 [T/C] NM_001008781 FAT3 EXON Missense_H2359Y exm947667 11 92533495 [A/G] NM_001008781 FAT3 EXON Missense_R2439Q exm947670 11 92533549 [A/G] NM_001008781 FAT3 EXON Missense_R2457Q exm947672 11 92533555 [A/G] NM_001008781 FAT3 EXON Missense_Q2459R exm947673 11 92533558 [A/G] NM_001008781 FAT3 EXON Missense_R2460Q exm947677 11 92533735 [A/G] NM_001008781 FAT3 EXON Missense_R2519Q exm947686 11 92534043 [T/G] NM_001008781 FAT3 EXON Missense_V2622F exm947703 11 92534418 [T/C] NM_001008781 FAT3 EXON Missense_R2747W exm947705 11 92534442 [A/G] NM_001008781 FAT3 EXON Missense_I2755V exm947708 11 92534497 [A/G] NM_001008781 FAT3 EXON Missense_R2773H exm947710 11 92534609 [A/C] NM_001008781 FAT3 EXON Missense_N2810K exm947711 11 92534658 [A/C] NM_001008781 FAT3 EXON Missense_M2827L exm947712 11 92534695 [T/C] NM_001008781 FAT3 EXON Missense_I2839T exm947720 11 92535012 [A/G] NM_001008781 FAT3 EXON Missense_V2945I exm947729 11 92538405 [A/C] NM_001008781 FAT3 EXON Missense_Q2995K exm947731 11 92538454 [T/C] NM_001008781 FAT3 EXON Missense_T3011I exm947745 11 92564805 [A/G] NM_001008781 FAT3 EXON Missense_V3167M exm947748 11 92564890 [A/G] NM_001008781 FAT3 EXON Missense_R3195H exm947752 11 92564913 [A/G] NM_001008781 FAT3 EXON Missense_I3203V exm947765 11 92568149 [A/G] NM_001008781 FAT3 EXON Missense_I3329V exm947771 11 92569769 [A/G] NM_001008781 FAT3 EXON Missense_Q3375R exm947774 11 92569867 [T/C] NM_001008781 FAT3 EXON Missense_R3408W exm947776 11 92570856 [T/G] NM_001008781 FAT3 EXON Missense_A3418S exm947778 11 92570895 [A/G] NM_001008781 FAT3 EXON Missense_T3431A exm947787 11 92573911 [T/G] NM_001008781 FAT3 EXON Missense_V3518L exm947793 11 92577352 [A/G] NM_001008781 FAT3 EXON Missense_A3607T exm947798 11 92577425 [T/C] NM_001008781 FAT3 EXON Missense_I3631T exm947804 11 92577590 [A/G] NM_001008781 FAT3 EXON Missense_R3686H exm947806 11 92577659 [T/G] NM_001008781 FAT3 EXON Missense_S3709I exm947808 11 92577710 [G/C] NM_001008781 FAT3 EXON Missense_R3726T exm947816 11 92577884 [A/G] NM_001008781 FAT3 EXON Missense_R3784H exm947818 11 92590401 [A/G] NM_001008781 FAT3 EXON Missense_N3796S exm947822 11 92590448 [A/G] NM_001008781 FAT3 EXON Missense_S3812G exm947836 11 92600138 [A/G] NM_001008781 FAT3 EXON Missense_A3964T exm947842 11 92600302 [A/C] NM_001008781 FAT3 EXON Nonsense_C4018X exm947845 11 92613978 [A/G] NM_001008781 FAT3 EXON Missense_R4070Q exm947853 11 92616034 [A/G] NM_001008781 FAT3 EXON Missense_V4138M exm947859 11 92616191 [T/C] NM_001008781 FAT3 EXON Missense_T4190M exm947860 11 92616217 [A/G] NM_001008781 FAT3 EXON Missense_A4199T exm947888 11 92623798 [A/G] NM_001008781 FAT3 EXON Missense_G4398D exm947890 11 92623824 [C/G] NM_001008781 FAT3 EXON Missense_P4407A exm2250418 11 92623877 [A/G] NM_001008781 FAT3 EXON Synonymous_P4424P exm947893 11 92623932 [A/G] NM_001008781 FAT3 EXON Missense_A4443T exm947894 11 92623951 [A/G] NM_001008781 FAT3 EXON Missense_D4449G exm947903 11 92624169 [A/G] NM_001008781 FAT3 EXON Missense_G4522S exm947908 11 92624235 [T/C] NM_001008781 FAT3 EXON Missense_L4544F exm947909 11 92624250 [T/G] NM_001008781 FAT3 EXON Missense_V4549L exm-rs7950811 11 92651002 [A/C] exm2271636 11 92668826 [T/C] exm-rs1387153 11 92673828 [T/C] exm-rs10830956 11 92681013 [T/C] exm-rs2166706 11 92691532 [T/C] exm947922 11 92703085 [T/C] NM_005959 MTNR1B EXON Missense_V65A exm-rs10830963 11 92708710 [C/G] NM_005959 MTNR1B Silent exm947932 11 92714749 [A/G] NM_005959 MTNR1B EXON Missense_M120I exm947933 11 92714759 [A/G] NM_005959 MTNR1B EXON Missense_V124I exm947937 11 92714778 [A/G] NM_005959 MTNR1B EXON Missense_N130S exm947938 11 92714801 [T/C] NM_005959 MTNR1B EXON Missense_R138C exm947950 11 92715081 [A/G] NM_005959 MTNR1B EXON Missense_R231H exm947951 11 92715089 [A/G] NM_005959 MTNR1B EXON Missense_A234T exm947958 11 92715183 [T/C] NM_005959 MTNR1B EXON Missense_A265V exm947968 11 92715378 [A/G] NM_005959 MTNR1B EXON Missense_R330Q exm947974 11 92715414 [T/C] NM_005959 MTNR1B EXON Missense_A342V exm947975 11 92715447 [T/C] NM_005959 MTNR1B EXON Missense_I353T exm-rs1447352 11 92722761 [A/G] exm947982 11 92881896 [A/G] NM_152313 SLC36A4 EXON Missense_S441L exm1743317 11 92887296 [A/T] NM_152313 SLC36A4 EXON Missense_R395S exm947992 11 92887349 [T/C] NM_152313 SLC36A4 EXON Missense_I378V exm947996 11 92887421 [G/C] NM_152313 SLC36A4 EXON Missense_L354V exm2275298 11 92887445 [T/C] NM_152313 SLC36A4 Silent exm947999 11 92895879 [A/C] NM_152313 SLC36A4 EXON Missense_D344Y exm948002 11 92895920 [T/C] NM_152313 SLC36A4 EXON Missense_H330R exm948003 11 92895923 [A/C] NM_152313 SLC36A4 EXON Missense_F329C exm948004 11 92895938 [A/G] NM_152313 SLC36A4 EXON Missense_L324S exm948005 11 92895944 [A/G] NM_152313 SLC36A4 EXON Missense_A322V exm948009 11 92896005 [A/G] NM_152313 SLC36A4 EXON Missense_R302C exm948011 11 92896023 [A/G] NM_152313 SLC36A4 EXON Nonsense_Q296X exm948013 11 92899092 [T/C] NM_152313 SLC36A4 EXON Missense_I287V exm948020 11 92901249 [G/C] NM_152313 SLC36A4 EXON Missense_R210T exm948022 11 92901294 [T/C] NM_152313 SLC36A4 EXON Missense_S195N exm948025 11 92913963 [T/A] NM_152313 SLC36A4 EXON Missense_Q180H exm948027 11 92914014 [A/C] NM_152313 SLC36A4 EXON Missense_Q163H exm948031 11 92914858 [A/G] NM_152313 SLC36A4 EXON Missense_R152W exm948032 11 92914881 [A/G] NM_152313 SLC36A4 EXON Missense_L144P exm948033 11 92914897 [T/C] NM_152313 SLC36A4 EXON Missense_S139G exm2250420 11 93012427 [T/C] exm948060 11 93088656 [A/G] NM_181645 CCDC67 EXON Missense_R50Q exm948067 11 93097437 [A/G] NM_181645 CCDC67 EXON Missense_S137G exm948070 11 93103336 [A/C] NM_181645 CCDC67 EXON Missense_K177T exm948072 11 93104279 [A/C] NM_181645 CCDC67 EXON Missense_R208S exm948079 11 93104417 [A/G] NM_181645 CCDC67 EXON Missense_E254K exm948080 11 93104441 [T/C] NM_181645 CCDC67 EXON Missense_C262R exm948084 11 93118642 [T/C] NM_181645 CCDC67 EXON Nonsense_R290X exm948085 11 93118643 [A/G] NM_181645 CCDC67 EXON Missense_R290Q exm1743446 11 93129484 [A/G] NM_181645 CCDC67 EXON Missense_E440G exm948097 11 93141472 [T/C] NM_181645 CCDC67 EXON Nonsense_R468X exm948101 11 93141548 [T/G] NM_181645 CCDC67 EXON Missense_R493I exm948103 11 93141580 [A/C] NM_181645 CCDC67 EXON Missense_Q504K exm948104 11 93148179 [T/C] NM_181645 CCDC67 EXON Missense_C513R exm948106 11 93148201 [T/C] NM_181645 CCDC67 EXON Missense_M520T exm948109 11 93148255 [T/A] NM_181645 CCDC67 EXON Missense_V538D exm948110 11 93170710 [T/C] NM_181645 CCDC67 EXON Missense_S547F exm948111 11 93170721 [A/G] NM_181645 CCDC67 EXON Missense_M551V exm-rs2248020 11 93259965 [A/C] NM_020179 C11orf75 Silent exm948135 11 93400902 [A/C] NM_033395 KIAA1731 EXON Missense_Q80K exm948143 11 93408743 [A/G] NM_033395 KIAA1731 EXON Missense_E179K exm948145 11 93408831 [A/G] NM_033395 KIAA1731 EXON Missense_R208Q exm948146 11 93412587 [T/C] NM_033395 KIAA1731 EXON Missense_R212C exm948156 11 93417252 [A/C] NM_033395 KIAA1731 EXON Missense_L358I exm948160 11 93421014 [T/C] NM_033395 KIAA1731 EXON Missense_S440F exm2219641 11 93425126 [T/C] NM_033395 KIAA1731 EXON Missense_A488V exm948164 11 93425159 [A/C] NM_033395 KIAA1731 EXON Missense_A499E exm948165 11 93428715 [T/C] NM_033395 KIAA1731 EXON Missense_I529T exm948178 11 93430158 [A/C] NM_033395 KIAA1731 EXON Missense_R694S exm948183 11 93430335 [A/G] NM_033395 KIAA1731 EXON Missense_E753K exm948190 11 93430626 [T/C] NM_033395 KIAA1731 EXON Missense_L850F exm948191 11 93430669 [C/G] NM_033395 KIAA1731 EXON Missense_T864S exm948193 11 93430741 [T/C] NM_033395 KIAA1731 EXON Missense_F888S exm948196 11 93430885 [A/G] NM_033395 KIAA1731 EXON Missense_R936H exm948215 11 93431887 [G/C] NM_033395 KIAA1731 EXON Missense_A1270G exm948217 11 93431931 [A/C] NM_033395 KIAA1731 EXON Missense_Q1285K exm948225 11 93432400 [A/G] NM_033395 KIAA1731 EXON Missense_G1441E exm948226 11 93432454 [T/G] NM_033395 KIAA1731 EXON Missense_L1459R exm948233 11 93432817 [A/G] NM_033395 KIAA1731 EXON Missense_R1580H exm948235 11 93432858 [A/C] NM_033395 KIAA1731 EXON Missense_K1594Q exm948239 11 93433024 [A/C] NM_033395 KIAA1731 EXON Missense_K1649T exm948244 11 93433273 [T/C] NM_033395 KIAA1731 EXON Missense_L1732P exm2219644 11 93440001 [T/C] NM_033395 KIAA1731 EXON Missense_P1896L exm948267 11 93456410 [T/C] NM_033395 KIAA1731 EXON Missense_Y2051H exm948268 11 93456413 [A/G] NM_033395 KIAA1731 EXON Missense_I2052V exm948271 11 93457532 [G/C] NM_033395 KIAA1731 EXON Missense_D2103E exm948273 11 93458926 [T/C] NM_033395 KIAA1731 EXON Missense_P2143L exm948278 11 93460160 [A/C] NM_033395 KIAA1731 EXON Missense_E2173A exm948282 11 93460264 [C/G] NM_033395 KIAA1731 EXON Missense_Q2208E exm948289 11 93461895 [A/G] NM_033395 KIAA1731 EXON Missense_I2404V exm948291 11 93462607 [T/A] NM_033395 KIAA1731 EXON Missense_E2437V exm948294 11 93462788 [T/C] NM_033395 KIAA1731 EXON Missense_R2470C exm948297 11 93463070 [A/T] NM_033395 KIAA1731 EXON Missense_K2534N exm948359 11 93469413 [A/C] NM_024116 TAF1D EXON Nonsense_E251X exm948363 11 93469880 [T/C] NM_024116 TAF1D EXON Missense_E225K exm948364 11 93469892 [C/G] NM_024116 TAF1D EXON Missense_L221V exm948365 11 93469908 [A/C] NM_024116 TAF1D EXON Missense_D215E exm948367 11 93470231 [T/C] NM_024116 TAF1D EXON Missense_T212A exm948372 11 93470368 [T/C] NM_024116 TAF1D EXON Missense_K166R exm948384 11 93471541 [A/C] NM_024116 TAF1D EXON Missense_S65A exm948387 11 93471567 [A/G] NM_024116 TAF1D EXON Missense_P56L exm948390 11 93472406 [T/C] NM_024116 TAF1D EXON Missense_R22Q exm948409 11 93487189 [A/G] NM_014039 C11orf54 EXON Missense_G106R exm948415 11 93488481 [A/C] NM_014039 C11orf54 EXON Missense_S146R exm948421 11 93492972 [A/G] NM_014039 C11orf54 EXON Missense_Y191C exm948429 11 93494811 [A/G] NM_014039 C11orf54 EXON Missense_R252H exm948431 11 93494841 [T/C] NM_014039 C11orf54 EXON Missense_I262T exm948447 11 93521241 [A/C] NM_004268 MED17 EXON Missense_M109L exm948463 11 93526983 [T/C] NM_004268 MED17 EXON Missense_L243F exm948467 11 93528079 [A/C] NM_004268 MED17 EXON Missense_P289T exm948469 11 93528104 [T/C] NM_004268 MED17 EXON Missense_A297V exm948476 11 93528225 [A/G] NM_004268 MED17 EXON Synonymous_P337P exm948477 11 93529634 [A/T] NM_004268 MED17 EXON Missense_F357L exm948501 11 93535077 [T/G] NM_004268 MED17 EXON Missense_D469Y exm948510 11 93540717 [A/G] NM_004268 MED17 EXON Synonymous_E500E exm2250423 11 93540717 [A/G] NM_004268 MED17 EXON Synonymous_E500E exm948535 11 93554242 [C/G] NM_001144871 VSTM5 EXON Missense_R113S exm948542 11 93583590 [A/G] NM_001144871 VSTM5 EXON Missense_R27C exm948543 11 93583617 [A/G] NM_001144871 VSTM5 EXON Missense_L18F exm2267285 11 93637839 [A/G] exm2267209 11 93667439 [A/G] exm948550 11 93754679 [A/G] NM_001098672 HEPHL1 EXON Missense_T49A exm948556 11 93778909 [T/C] NM_001098672 HEPHL1 EXON Missense_R81C exm948557 11 93778910 [A/G] NM_001098672 HEPHL1 EXON Missense_R81H exm948558 11 93778925 [T/C] NM_001098672 HEPHL1 EXON Missense_T86I exm948560 11 93779032 [T/C] NM_001098672 HEPHL1 EXON Nonsense_R122X exm948561 11 93779033 [A/G] NM_001098672 HEPHL1 EXON Missense_R122Q exm948569 11 93796782 [T/C] NM_001098672 HEPHL1 EXON Missense_T175I exm948579 11 93797523 [T/C] NM_001098672 HEPHL1 EXON Missense_R219W exm948581 11 93797539 [A/G] NM_001098672 HEPHL1 EXON Missense_R224Q exm948583 11 93797619 [A/G] NM_001098672 HEPHL1 EXON Missense_N251D exm1743600 11 93800692 [T/C] NM_001098672 HEPHL1 EXON Missense_P280L exm948592 11 93803598 [G/C] NM_001098672 HEPHL1 EXON Missense_K374N exm948593 11 93803617 [T/C] NM_001098672 HEPHL1 EXON Missense_R381C exm948594 11 93803618 [A/G] NM_001098672 HEPHL1 EXON Missense_R381H exm948597 11 93803672 [A/G] NM_001098672 HEPHL1 EXON Missense_N399S exm948602 11 93806252 [T/C] NM_001098672 HEPHL1 EXON Missense_R432W exm948603 11 93806253 [A/G] NM_001098672 HEPHL1 EXON Missense_R432Q exm948618 11 93808528 [A/G] NM_001098672 HEPHL1 EXON Missense_V565I exm948625 11 93819142 [A/G] NM_001098672 HEPHL1 Silent exm948639 11 93821949 [T/G] NM_001098672 HEPHL1 EXON Missense_M703I exm948650 11 93826689 [T/C] NM_001098672 HEPHL1 EXON Missense_R773C exm948651 11 93826690 [A/G] NM_001098672 HEPHL1 EXON Missense_R773H exm948654 11 93834393 [A/G] NM_001098672 HEPHL1 EXON Missense_V823I exm948667 11 93837771 [A/C] NM_001098672 HEPHL1 EXON Missense_D920E exm948672 11 93837848 [A/C] NM_001098672 HEPHL1 EXON Missense_K946T exm2219653 11 93837861 [A/T] NM_001098672 HEPHL1 EXON Missense_K950N exm948679 11 93839219 [A/C] NM_001098672 HEPHL1 EXON Missense_N990H exm948686 11 93844108 [T/C] NM_001098672 HEPHL1 EXON Missense_P1029S exm948688 11 93844199 [T/C] NM_001098672 HEPHL1 EXON Missense_M1059T exm948689 11 93844205 [T/C] NM_001098672 HEPHL1 EXON Missense_T1061I exm948691 11 93844720 [T/C] NM_001098672 HEPHL1 EXON Missense_S1076P exm948697 11 93844861 [A/G] NM_001098672 HEPHL1 EXON Missense_R1094Q exm948702 11 93844983 [A/C] NM_001098672 HEPHL1 EXON Missense_L1135I exm948703 11 93844989 [T/C] NM_001098672 HEPHL1 EXON Missense_L1137F exm948708 11 93862493 [A/C] NM_015368 PANX1 EXON Missense_Q5H exm948716 11 93886690 [T/C] NM_015368 PANX1 EXON Missense_F72S exm948725 11 93911584 [T/C] NM_015368 PANX1 EXON Missense_P124L exm948727 11 93911596 [A/G] NM_015368 PANX1 EXON Missense_R128H exm2276203 11 93911601 [A/G] NM_015368 PANX1 EXON Missense_A130T exm948733 11 93911678 [C/G] NM_015368 PANX1 EXON Missense_K155N exm948739 11 93912872 [A/G] NM_015368 PANX1 EXON Missense_R217H exm948740 11 93912902 [T/C] NM_015368 PANX1 EXON Missense_A227V exm948748 11 93913036 [A/G] NM_015368 PANX1 EXON Missense_I272V exm948761 11 93913355 [T/C] NM_015368 PANX1 EXON Missense_V378A exm948762 11 93913392 [T/G] NM_015368 PANX1 EXON Missense_E390D exm948763 11 93913409 [T/C] NM_015368 PANX1 EXON Missense_T396M exm948770 11 94039677 [A/G] NM_001199206 FOLR4 Silent exm2250427 11 94039759 [T/C] NM_001199206 FOLR4 EXON Synonymous_N73N exm948777 11 94040334 [T/G] NM_001199206 FOLR4 EXON Missense_A118S exm948778 11 94040338 [T/C] NM_001199206 FOLR4 EXON Missense_P119L exm948780 11 94040356 [A/G] NM_001199206 FOLR4 EXON Missense_R125Q exm948782 11 94040418 [T/A] NM_001199206 FOLR4 EXON Missense_S146T exm948787 11 94040636 [T/G] NM_001199206 FOLR4 EXON Missense_H177Q exm948788 11 94040707 [A/G] NM_001199206 FOLR4 EXON Missense_R201Q exm948790 11 94040719 [A/G] NM_001199206 FOLR4 EXON Missense_R205Q exm948795 11 94040812 [T/C] NM_001199206 FOLR4 EXON Missense_S236F exm948802 11 94113325 [A/G] NM_016540 GPR83 EXON Missense_T421M exm948809 11 94113466 [T/G] NM_016540 GPR83 EXON Missense_P374Q exm948811 11 94113505 [G/C] NM_016540 GPR83 EXON Missense_S361T exm948820 11 94113653 [T/C] NM_016540 GPR83 EXON Missense_V312I exm948832 11 94113925 [T/C] NM_016540 GPR83 EXON Missense_R221H exm948835 11 94113933 [T/G] NM_016540 GPR83 EXON Missense_D218E exm948840 11 94126732 [T/C] NM_016540 GPR83 EXON Missense_Y189C exm948852 11 94129635 [A/C] NM_016540 GPR83 EXON Missense_R148L exm948856 11 94134092 [A/G] NM_016540 GPR83 EXON Missense_L108F exm948860 11 94134120 [A/C] NM_016540 GPR83 EXON Missense_K98N exm948864 11 94134236 [T/G] NM_016540 GPR83 EXON Missense_R60S exm948880 11 94153326 [T/C] NM_005591,NM_005590 MRE11A,MRE11A EXON Missense_M698V,Missense_M670V exm2267210 11 94154902 [A/G] NM_005591,NM_005590 MRE11A,MRE11A Silent,Silent exm948887 11 94178985 [T/C] NM_005591,NM_005590 MRE11A,MRE11A EXON Missense_I620V,Silent exm1743736 11 94179032 [C/G] NM_005591,NM_005590 MRE11A,MRE11A EXON Missense_R604P,Silent exm948891 11 94180441 [T/C] NM_005591,NM_005590 MRE11A,MRE11A EXON Missense_R576Q,Missense_R576Q exm948894 11 94180501 [T/C] NM_005591,NM_005590 MRE11A,MRE11A EXON Missense_N556S,Missense_N556S exm948899 11 94189501 [A/G] NM_005591,NM_005590 MRE11A,MRE11A EXON Missense_R502C,Missense_R502C exm948901 11 94192594 [T/C] NM_005591,NM_005590 MRE11A,MRE11A EXON Missense_E494K,Missense_E494K exm948902 11 94192599 [T/G] NM_005591,NM_005590 MRE11A,MRE11A EXON Missense_A492D,Missense_A492D exm948932 11 94203652 [C/G] NM_005591,NM_005590 MRE11A,MRE11A EXON Missense_S334R,Missense_S334R exm948944 11 94204767 [G/C] NM_005591,NM_005590 MRE11A,MRE11A EXON Missense_S273C,Missense_S273C exm948952 11 94211916 [T/C] NM_005591,NM_005590 MRE11A,MRE11A EXON Missense_A177T,Missense_A177T exm948956 11 94211969 [A/G] NM_005591,NM_005590 MRE11A,MRE11A EXON Missense_V159A,Missense_V159A exm948957 11 94211976 [T/C] NM_005591,NM_005590 MRE11A,MRE11A EXON Missense_M157V,Missense_M157V exm948967 11 94224031 [T/C] NM_005591,NM_005590 MRE11A,MRE11A EXON Missense_D41N,Missense_D41N exm2250430 11 94224071 [T/C] NM_005591,NM_005590 MRE11A,MRE11A EXON Synonymous_E27E,Synonymous_E27E exm948974 11 94225949 [A/G] NM_005591,NM_005590 MRE11A,MRE11A EXON Missense_L7F,Missense_L7F exm948977 11 94229995 [A/G] NM_017704 ANKRD49 EXON Missense_V46I exm948983 11 94231273 [A/G] NM_017704 ANKRD49 EXON Missense_T99A exm948998 11 94261255 [G/C] NM_001190462 LOC643037 EXON Missense_L86V exm948999 11 94261280 [A/G] NM_001190462 LOC643037 EXON Missense_R94K exm949000 11 94261297 [A/G] NM_001190462 LOC643037 EXON Missense_G100S exm949028 11 94277959 [C/G] NM_002033 FUT4 EXON Missense_C220W exm2250431 11 94278025 [A/C] NM_002033 FUT4 EXON Synonymous_L242L exm949032 11 94278029 [A/G] NM_002033 FUT4 EXON Missense_K244E exm949061 11 94278785 [A/C] NM_002033 FUT4 EXON Missense_I496L exm949062 11 94278803 [T/G] NM_002033 FUT4 EXON Nonsense_E502X exm949067 11 94300709 [C/G] NM_152431 PIWIL4 EXON Missense_A9P exm949085 11 94310641 [T/C] NM_152431 PIWIL4 EXON Nonsense_Q166X exm949086 11 94310645 [A/G] NM_152431 PIWIL4 EXON Missense_K167R exm949087 11 94310653 [A/G] NM_152431 PIWIL4 EXON Missense_E170K exm-rs2212361 11 94312323 [T/C] NM_152431 PIWIL4 Silent exm949100 11 94320265 [A/C] NM_152431 PIWIL4 EXON Missense_K256Q exm949102 11 94320301 [T/C] NM_152431 PIWIL4 EXON Missense_L268F exm949104 11 94320305 [A/G] NM_152431 PIWIL4 EXON Missense_R269Q exm949106 11 94320357 [T/G] NM_152431 PIWIL4 EXON Missense_L286F exm949108 11 94320374 [T/C] NM_152431 PIWIL4 EXON Missense_T292M exm949114 11 94322358 [A/G] NM_152431 PIWIL4 EXON Missense_R329Q exm949115 11 94322369 [A/G] NM_152431 PIWIL4 EXON Missense_E333K exm949122 11 94326720 [A/G] NM_152431 PIWIL4 EXON Missense_M355V exm949135 11 94330978 [A/G] NM_152431 PIWIL4 EXON Missense_N426S exm949137 11 94331007 [A/C] NM_152431 PIWIL4 EXON Missense_L436M exm949141 11 94335037 [A/C] NM_152431 PIWIL4 EXON Missense_T486N exm949145 11 94335094 [T/G] NM_152431 PIWIL4 EXON Missense_C505F exm949156 11 94340728 [A/G] NM_152431 PIWIL4 EXON Missense_M588V exm949170 11 94349659 [A/G] NM_152431 PIWIL4 EXON Synonymous_R648R exm949173 11 94351137 [T/C] NM_152431 PIWIL4 EXON Missense_Y678H exm949177 11 94352943 [T/C] NM_152431 PIWIL4 EXON Missense_I729T exm949182 11 94353053 [T/C] NM_152431 PIWIL4 Silent exm949189 11 94353310 [A/G] NM_152431 PIWIL4 EXON Synonymous_P814P exm2267286 11 94454413 [A/G] exm949201 11 94528291 [T/C] NM_130847 AMOTL1 EXON Missense_T55M exm2250434 11 94532635 [A/G] NM_130847 AMOTL1 EXON Synonymous_A93A exm949205 11 94532635 [A/G] NM_130847 AMOTL1 EXON Synonymous_A93A exm949209 11 94532777 [A/G] NM_130847 AMOTL1 EXON Missense_T141A exm949216 11 94532885 [T/C] NM_130847 AMOTL1 EXON Missense_R177W exm949220 11 94533030 [A/G] NM_130847 AMOTL1 EXON Missense_S225N exm949221 11 94533068 [T/C] NM_130847 AMOTL1 EXON Missense_R238C exm949224 11 94533102 [T/C] NM_130847 AMOTL1 EXON Missense_A249V exm949232 11 94533347 [A/G] NM_130847 AMOTL1 EXON Missense_G331R exm949239 11 94533443 [T/C] NM_130847 AMOTL1 EXON Missense_R363W exm949240 11 94533444 [A/G] NM_130847 AMOTL1 EXON Missense_R363Q exm949242 11 94554713 [T/C] NM_130847 AMOTL1 EXON Missense_P380L exm949253 11 94554836 [T/C] NM_130847 AMOTL1 EXON Missense_P421L exm949258 11 94554975 [G/C] NM_130847 AMOTL1 EXON Missense_D467E exm949261 11 94563358 [A/G] NM_130847 AMOTL1 EXON Missense_R519Q exm-rs878874 11 94588465 [A/G] NM_130847 AMOTL1 Silent exm949277 11 94592730 [A/G] NM_130847 AMOTL1 EXON Missense_N662S exm949279 11 94592780 [A/G] NM_130847 AMOTL1 EXON Missense_A679T exm1744000 11 94592858 [A/G] NM_130847 AMOTL1 EXON Missense_A705T exm949308 11 94602596 [A/G] NM_130847 AMOTL1 EXON Missense_V908I exm949311 11 94602626 [A/G] NM_130847 AMOTL1 EXON Missense_A918T exm2250435 11 94620657 [T/G] exm-rs10831284 11 94667964 [A/G] exm949328 11 94703214 [A/G] NM_016403 CWC15 EXON Missense_A127V exm1744043 11 94730711 [C/G] NM_018039 KDM4D EXON Missense_A59P exm949367 11 94731606 [A/G] NM_018039 KDM4D EXON Missense_E357G exm949372 11 94731684 [A/G] NM_018039 KDM4D EXON Missense_R383Q exm949375 11 94731759 [A/G] NM_018039 KDM4D EXON Missense_R408Q exm949377 11 94731822 [G/C] NM_018039 KDM4D EXON Missense_P429R exm949386 11 94731947 [T/G] NM_018039 KDM4D EXON Missense_A471S exm949387 11 94731966 [T/C] NM_018039 KDM4D EXON Missense_A477V exm949390 11 94732025 [T/G] NM_018039 KDM4D EXON Missense_L497V exm949391 11 94732033 [A/C] NM_018039 KDM4D EXON Missense_D499E exm949409 11 94759385 [T/C] NM_001161630 KDM4E EXON Missense_R222C exm949412 11 94759494 [T/C] NM_001161630 KDM4E EXON Missense_F258S exm949418 11 94759863 [A/G] NM_001161630 KDM4E EXON Missense_C381Y exm949420 11 94759940 [T/G] NM_001161630 KDM4E EXON Missense_F407V exm949425 11 94760153 [T/C] NM_001161630 KDM4E EXON Missense_R478C exm949427 11 94760223 [A/T] NM_001161630 KDM4E EXON Missense_M501K exm949441 11 94800853 [T/C] NM_032102 SRSF8 EXON Missense_Y155H exm949447 11 94801025 [T/C] NM_032102 SRSF8 EXON Missense_L212P exm949448 11 94801051 [T/C] NM_032102 SRSF8 EXON Missense_H221Y exm949449 11 94801165 [A/G] NM_032102 SRSF8 EXON Missense_G259R exm949450 11 94801179 [A/C] NM_032102 SRSF8 EXON Missense_Q263H exm949452 11 94801201 [T/C] NM_032102 SRSF8 EXON Missense_P271S exm2219675 11 94861754 [G/C] NM_015036 ENDOD1 EXON Missense_E172Q exm949470 11 94861898 [T/C] NM_015036 ENDOD1 EXON Missense_W220R exm949473 11 94861973 [A/G] NM_015036 ENDOD1 EXON Missense_I245V exm949476 11 94862019 [T/G] NM_015036 ENDOD1 EXON Missense_F260C exm949482 11 94862157 [T/C] NM_015036 ENDOD1 EXON Missense_S306F exm949485 11 94862234 [A/G] NM_015036 ENDOD1 EXON Missense_M332V exm949490 11 94862288 [A/G] NM_015036 ENDOD1 EXON Missense_V350M exm949491 11 94862318 [T/C] NM_015036 ENDOD1 EXON Missense_F360L exm949493 11 94862340 [A/T] NM_015036 ENDOD1 EXON Missense_Q367L exm949495 11 94862402 [A/G] NM_015036 ENDOD1 EXON Missense_M388V exm949497 11 94862437 [A/G] NM_015036 ENDOD1 EXON Nonsense_W399X exm949504 11 94862577 [T/G] NM_015036 ENDOD1 EXON Missense_G446V exm949507 11 94862627 [G/C] NM_015036 ENDOD1 EXON Missense_V463L exm949511 11 94906505 [T/C] NM_144665,NM_001271594 SESN3,SESN3 EXON Missense_V465I,Missense_V326I exm949519 11 94910926 [A/G] NM_144665,NM_001271594 SESN3,SESN3 EXON Missense_R402C,Missense_R263C exm949533 11 94918450 [A/C] NM_144665,NM_001271594 SESN3,SESN3 EXON Missense_E244D,Missense_E105D exm949536 11 94918490 [T/C] NM_144665,NM_001271594 SESN3,SESN3 EXON Missense_N231S,Missense_N92S exm949550 11 94926655 [T/G] NM_144665,NM_001271594 SESN3,SESN3 EXON Missense_T37K,Silent exm2250437 11 95155770 [A/G] exm-rs1939875 11 95422867 [A/G] exm2267287 11 95494313 [A/G] exm2219679 11 95502106 [A/C] NM_144664 FAM76B EXON Silent exm949567 11 95516259 [T/G] NM_144664 FAM76B EXON Missense_H178P exm949568 11 95516290 [A/G] NM_144664 FAM76B EXON Missense_H168Y exm949574 11 95519380 [T/C] NM_144664 FAM76B EXON Missense_R89H exm949581 11 95521726 [T/C] NM_144664 FAM76B EXON Missense_E30G exm949596 11 95523887 [A/G] NM_014679,NM_001243777,NM_001243776 CEP57,CEP57,CEP57 EXON Missense_A9T,Missense_A9T,Silent exm949599 11 95532445 [T/C] NM_014679,NM_001243777,NM_001243776 CEP57,CEP57,CEP57 EXON Missense_S32F,Missense_S32F,Missense_S23F exm949606 11 95546226 [G/C] NM_014679,NM_001243777,NM_001243776 CEP57,CEP57,CEP57 EXON Missense_Q111H,Missense_Q111H,Missense_Q102H exm949611 11 95546659 [A/C] NM_014679,NM_001243777,NM_001243776 CEP57,CEP57,CEP57 EXON Missense_E137A,Missense_E137A,Missense_E128A exm949613 11 95546689 [T/C] NM_014679,NM_001243777,NM_001243776 CEP57,CEP57,CEP57 EXON Missense_L147S,Missense_L147S,Missense_L138S exm949614 11 95546722 [A/G] NM_014679,NM_001243777,NM_001243776 CEP57,CEP57,CEP57 EXON Missense_E158G,Missense_E158G,Missense_E149G exm949617 11 95551018 [T/A] NM_014679,NM_001243777,NM_001243776 CEP57,CEP57,CEP57 EXON Missense_L191H,Missense_L191H,Missense_L182H exm949623 11 95552046 [A/G] NM_014679,NM_001243777,NM_001243776 CEP57,CEP57,CEP57 EXON Missense_R226H,Missense_R226H,Missense_R217H exm949626 11 95555086 [T/C] NM_014679,NM_001243777,NM_001243776 CEP57,CEP57,CEP57 EXON Missense_P251S,Missense_P251S,Missense_P242S exm949637 11 95561013 [T/C] NM_014679,NM_001243777,NM_001243776 CEP57,CEP57,CEP57 EXON Missense_H317Y,Missense_H291Y,Missense_H308Y exm949638 11 95561043 [A/G] NM_014679,NM_001243777,NM_001243776 CEP57,CEP57,CEP57 EXON Missense_I327V,Missense_I301V,Missense_I318V exm1744307 11 95561049 [A/G] NM_014679,NM_001243777,NM_001243776 CEP57,CEP57,CEP57 EXON Missense_S329G,Missense_S303G,Missense_S320G exm949646 11 95564259 [A/G] NM_014679,NM_001243777,NM_001243776 CEP57,CEP57,CEP57 EXON Missense_R448G,Missense_R422G,Missense_R439G exm949656 11 95568531 [A/G] NM_001243571,NM_201278,NM_201281,NM_016156 MTMR2,MTMR2,MTMR2,MTMR2 EXON Missense_S547P,Missense_S547P,Missense_S547P,Missense_S619P exm1744321 11 95568581 [C/G] NM_001243571,NM_201278,NM_201281,NM_016156 MTMR2,MTMR2,MTMR2,MTMR2 EXON Missense_A530G,Missense_A530G,Missense_A530G,Missense_A602G exm949659 11 95569325 [T/C] NM_001243571,NM_201278,NM_201281,NM_016156 MTMR2,MTMR2,MTMR2,MTMR2 EXON Missense_R514Q,Missense_R514Q,Missense_R514Q,Missense_R586Q exm949662 11 95569341 [T/C] NM_001243571,NM_201278,NM_201281,NM_016156 MTMR2,MTMR2,MTMR2,MTMR2 EXON Missense_I509V,Missense_I509V,Missense_I509V,Missense_I581V exm949665 11 95569448 [T/C] NM_001243571,NM_201278,NM_201281,NM_016156 MTMR2,MTMR2,MTMR2,MTMR2 EXON Missense_N473S,Missense_N473S,Missense_N473S,Missense_N545S exm949670 11 95571347 [G/C] NM_001243571,NM_201278,NM_201281,NM_016156 MTMR2,MTMR2,MTMR2,MTMR2 EXON Missense_E430Q,Missense_E430Q,Missense_E430Q,Missense_E502Q exm949678 11 95578117 [T/C] NM_001243571,NM_201278,NM_201281,NM_016156 MTMR2,MTMR2,MTMR2,MTMR2 EXON Synonymous_L390L,Synonymous_L390L,Synonymous_L390L,Synonymous_L462L exm949680 11 95578167 [T/C] NM_001243571,NM_201278,NM_201281,NM_016156 MTMR2,MTMR2,MTMR2,MTMR2 EXON Missense_E374K,Missense_E374K,Missense_E374K,Missense_E446K exm949691 11 95580951 [A/G] NM_001243571,NM_201278,NM_201281,NM_016156 MTMR2,MTMR2,MTMR2,MTMR2 EXON Missense_I297T,Missense_I297T,Missense_I297T,Missense_I369T exm949696 11 95582937 [T/A] NM_001243571,NM_201278,NM_201281,NM_016156 MTMR2,MTMR2,MTMR2,MTMR2 EXON Missense_E226D,Missense_E226D,Missense_E226D,Missense_E298D exm949706 11 95590766 [G/C] NM_001243571,NM_201278,NM_201281,NM_016156 MTMR2,MTMR2,MTMR2,MTMR2 EXON Missense_P130A,Missense_P130A,Missense_P130A,Missense_P202A exm949713 11 95591718 [A/C] NM_001243571,NM_201278,NM_201281,NM_016156 MTMR2,MTMR2,MTMR2,MTMR2 EXON Missense_A111S,Missense_A111S,Missense_A111S,Missense_A183S exm949716 11 95591795 [T/G] NM_001243571,NM_201278,NM_201281,NM_016156 MTMR2,MTMR2,MTMR2,MTMR2 EXON Missense_D85A,Missense_D85A,Missense_D85A,Missense_D157A exm949735 11 95621376 [T/C] NM_001243571,NM_201278,NM_201281,NM_016156 MTMR2,MTMR2,MTMR2,MTMR2 EXON Silent,Silent,Silent,Missense_V44I exm949751 11 95712527 [T/C] NM_032427 MAML2 EXON Missense_Q1019R exm949753 11 95712558 [A/C] NM_032427 MAML2 EXON Missense_F1009V exm949757 11 95712644 [A/G] NM_032427 MAML2 EXON Missense_T980M exm949759 11 95712720 [T/C] NM_032427 MAML2 EXON Missense_V955I exm949762 11 95712780 [T/G] NM_032427 MAML2 EXON Missense_Q935K exm949764 11 95712809 [A/G] NM_032427 MAML2 EXON Missense_F925S exm949766 11 95712845 [A/G] NM_032427 MAML2 EXON Missense_T913I exm949768 11 95712897 [T/G] NM_032427 MAML2 EXON Missense_P896T exm949769 11 95712986 [T/G] NM_032427 MAML2 EXON Missense_N866T exm949771 11 95713014 [T/C] NM_032427 MAML2 EXON Missense_M857V exm949777 11 95724686 [T/C] NM_032427 MAML2 EXON Missense_A781T exm2250441 11 95766185 [T/C] NM_032427 MAML2 Silent exm949786 11 95825199 [T/G] NM_032427 MAML2 EXON Missense_P666T exm949816 11 95825495 [A/G] NM_032427 MAML2 EXON Missense_A567V exm949819 11 95825541 [A/G] NM_032427 MAML2 EXON Missense_R552C exm949832 11 95825703 [A/G] NM_032427 MAML2 EXON Missense_P498S exm949833 11 95825709 [A/G] NM_032427 MAML2 EXON Missense_P496S exm949837 11 95825755 [G/C] NM_032427 MAML2 EXON Missense_I480M exm949846 11 95825982 [A/G] NM_032427 MAML2 EXON Missense_P405S exm949849 11 95826052 [A/C] NM_032427 MAML2 EXON Missense_Q381H exm949850 11 95826086 [A/G] NM_032427 MAML2 EXON Missense_P370L exm949852 11 95826152 [T/C] NM_032427 MAML2 EXON Missense_S348N exm949859 11 95826389 [A/G] NM_032427 MAML2 EXON Missense_P269L exm949861 11 95826473 [T/C] NM_032427 MAML2 EXON Missense_R241Q exm949862 11 95826485 [T/C] NM_032427 MAML2 EXON Missense_Q237R exm949863 11 95826554 [A/G] NM_032427 MAML2 EXON Missense_A214V exm949864 11 95826609 [A/C] NM_032427 MAML2 EXON Missense_V196L exm949865 11 95826642 [T/A] NM_032427 MAML2 EXON Missense_S185T exm-rs10765792 11 95866700 [C/G] NM_032427 MAML2 Silent exm2264434 11 95969863 [A/C] NM_032427 MAML2 Silent exm-rs7115578 11 96000100 [A/G] NM_032427 MAML2 Silent exm949882 11 96074983 [C/G] NM_032427 MAML2 EXON Missense_G26A exm949890 11 96092186 [A/G] NM_024725 CCDC82 EXON Missense_R513W exm949898 11 96098196 [A/C] NM_024725 CCDC82 EXON Missense_L443W exm949913 11 96116444 [T/C] NM_024725 CCDC82 EXON Missense_Q327R exm949914 11 96116447 [T/C] NM_024725 CCDC82 EXON Missense_K326R exm949916 11 96116538 [T/C] NM_024725 CCDC82 EXON Missense_D296N exm949919 11 96116597 [A/T] NM_024725 CCDC82 EXON Missense_D276V exm949925 11 96117149 [A/G] NM_024725 CCDC82 EXON Missense_R255C exm949931 11 96117280 [T/C] NM_024725 CCDC82 EXON Missense_R211H exm949938 11 96117451 [T/C] NM_024725 CCDC82 EXON Missense_S154N exm949940 11 96117520 [T/C] NM_024725 CCDC82 EXON Missense_S131N exm2219686 11 96117529 [T/C] NM_024725 CCDC82 EXON Missense_K128R exm949941 11 96117537 [A/C] NM_024725 CCDC82 EXON Missense_D125E exm949943 11 96117590 [T/C] NM_024725 CCDC82 EXON Missense_T108A exm949945 11 96117641 [G/C] NM_024725 CCDC82 EXON Missense_Q91E exm949951 11 96117812 [T/C] NM_024725 CCDC82 EXON Missense_I34V exm949972 11 96124337 [A/G] NM_001261833,NM_003772 JRKL,JRKL EXON Missense_N175S,Missense_N175S exm949994 11 96125155 [A/G] NM_001261833,NM_003772 JRKL,JRKL EXON Missense_E448K,Missense_E448K exm949995 11 96125195 [T/G] NM_001261833,NM_003772 JRKL,JRKL EXON Missense_S461I,Missense_S461I exm2250446 11 96535365 [T/C] exm2271637 11 96571163 [T/C] exm2264435 11 96965323 [A/C] exm2271638 11 97252625 [T/G] exm2267212 11 97319496 [A/G] exm-rs11212364 11 97574984 [A/G] exm-rs2405657 11 97682564 [A/G] exm2259922 11 97894832 [A/G] exm-rs2509843 11 98125404 [A/G] exm2250458 11 98254968 [A/G] exm-rs4237591 11 98466268 [T/C] exm2250460 11 98794453 [A/G] exm2271639 11 98824624 [T/G] exm2271545 11 99415903 [T/G] NM_014361,NM_001243270,NM_001243271 CNTN5,CNTN5,CNTN5 Silent,Silent,Silent exm2259927 11 99455061 [A/G] NM_014361,NM_001243270,NM_001243271,NM_175566 CNTN5,CNTN5,CNTN5,CNTN5 Silent,Silent,Silent,Silent exm-rs10501920 11 99493173 [G/C] NM_014361,NM_001243270,NM_001243271,NM_175566 CNTN5,CNTN5,CNTN5,CNTN5 Silent,Silent,Silent,Silent exm-rs7949313 11 99512311 [T/C] NM_014361,NM_001243270,NM_001243271,NM_175566 CNTN5,CNTN5,CNTN5,CNTN5 Silent,Silent,Silent,Silent exm-rs952700 11 99585736 [A/G] NM_014361,NM_001243270,NM_001243271,NM_175566 CNTN5,CNTN5,CNTN5,CNTN5 Silent,Silent,Silent,Silent exm2250464 11 99611634 [T/C] NM_014361,NM_001243270,NM_001243271,NM_175566 CNTN5,CNTN5,CNTN5,CNTN5 Silent,Silent,Silent,Silent exm950011 11 99690373 [T/C] NM_014361,NM_001243270,NM_001243271,NM_175566 CNTN5,CNTN5,CNTN5,CNTN5 EXON Missense_P52S,Missense_P52S,Missense_P52S,Silent exm950015 11 99690428 [T/G] NM_014361,NM_001243270,NM_001243271,NM_175566 CNTN5,CNTN5,CNTN5,CNTN5 EXON Missense_L70R,Missense_L70R,Missense_L70R,Silent exm950016 11 99690434 [A/C] NM_014361,NM_001243270,NM_001243271,NM_175566 CNTN5,CNTN5,CNTN5,CNTN5 EXON Missense_A72E,Missense_A72E,Missense_A72E,Silent exm950029 11 99715682 [C/G] NM_014361,NM_001243270,NM_001243271,NM_175566 CNTN5,CNTN5,CNTN5,CNTN5 EXON Missense_R126G,Missense_R126G,Missense_R126G,Missense_R52G exm950032 11 99715819 [A/G] NM_014361,NM_001243270,NM_001243271,NM_175566 CNTN5,CNTN5,CNTN5,CNTN5 EXON Synonymous_R134R,Synonymous_R134R,Synonymous_R134R,Synonymous_R60R exm950038 11 99715891 [T/G] NM_014361,NM_001243270,NM_001243271,NM_175566 CNTN5,CNTN5,CNTN5,CNTN5 EXON Missense_I158M,Missense_I158M,Missense_I158M,Missense_I84M exm950043 11 99786806 [T/C] NM_014361,NM_001243270,NM_001243271,NM_175566 CNTN5,CNTN5,CNTN5,CNTN5 EXON Missense_R200W,Missense_R200W,Missense_R200W,Missense_R126W exm950047 11 99827574 [A/C] NM_014361,NM_001243270,NM_001243271,NM_175566 CNTN5,CNTN5,CNTN5,CNTN5 EXON Missense_S237Y,Missense_S237Y,Missense_S237Y,Missense_S163Y exm950056 11 99931945 [C/G] NM_014361,NM_001243270,NM_001243271,NM_175566 CNTN5,CNTN5,CNTN5,CNTN5 EXON Missense_P328A,Missense_P328A,Missense_P328A,Missense_P254A exm950058 11 99931978 [A/G] NM_014361,NM_001243270,NM_001243271,NM_175566 CNTN5,CNTN5,CNTN5,CNTN5 EXON Missense_G339S,Missense_G339S,Missense_G339S,Missense_G265S exm950062 11 99932000 [A/G] NM_014361,NM_001243270,NM_001243271,NM_175566 CNTN5,CNTN5,CNTN5,CNTN5 EXON Missense_R346H,Missense_R346H,Missense_R346H,Missense_R272H exm950063 11 99932010 [A/T] NM_014361,NM_001243270,NM_001243271,NM_175566 CNTN5,CNTN5,CNTN5,CNTN5 EXON Missense_K349N,Missense_K349N,Missense_K349N,Missense_K275N exm950065 11 99932033 [T/C] NM_014361,NM_001243270,NM_001243271,NM_175566 CNTN5,CNTN5,CNTN5,CNTN5 EXON Missense_P357L,Missense_P357L,Missense_P357L,Missense_P283L exm950080 11 99942456 [A/G] NM_014361,NM_001243270,NM_001243271,NM_175566 CNTN5,CNTN5,CNTN5,CNTN5 EXON Missense_N440S,Missense_N440S,Missense_N440S,Missense_N366S exm950088 11 100061865 [A/G] NM_014361,NM_001243270,NM_001243271,NM_175566 CNTN5,CNTN5,CNTN5,CNTN5 EXON Missense_I530V,Missense_I530V,Missense_I530V,Missense_I456V exm950096 11 100061976 [T/C] NM_014361,NM_001243270,NM_001243271,NM_175566 CNTN5,CNTN5,CNTN5,CNTN5 EXON Missense_S567P,Missense_S567P,Missense_S567P,Missense_S493P exm950097 11 100064228 [A/G] NM_014361,NM_001243270,NM_001243271,NM_175566 CNTN5,CNTN5,CNTN5,CNTN5 EXON Missense_R573G,Missense_R573G,Missense_R573G,Missense_R499G exm2249500 11 100064305 [T/C] NM_014361,NM_001243270,NM_001243271,NM_175566 CNTN5,CNTN5,CNTN5,CNTN5 EXON Synonymous_D598D,Synonymous_D598D,Synonymous_D598D,Synonymous_D524D exm950102 11 100064366 [C/G] NM_014361,NM_001243270,NM_001243271,NM_175566 CNTN5,CNTN5,CNTN5,CNTN5 EXON Missense_E619Q,Missense_E619Q,Missense_E619Q,Missense_E545Q exm950112 11 100141950 [A/G] NM_014361,NM_001243270,NM_001243271,NM_175566 CNTN5,CNTN5,CNTN5,CNTN5 EXON Missense_R764Q,Missense_R764Q,Missense_R764Q,Missense_R690Q exm2271640 11 100165790 [T/C] NM_014361,NM_001243270,NM_001243271,NM_175566 CNTN5,CNTN5,CNTN5,CNTN5 Silent,Silent,Silent,Silent exm950116 11 100168410 [T/A] NM_014361,NM_001243270,NM_001243271,NM_175566 CNTN5,CNTN5,CNTN5,CNTN5 EXON Missense_L790I,Missense_L790I,Missense_L790I,Missense_L716I exm950122 11 100170065 [A/G] NM_014361,NM_001243270,NM_001243271,NM_175566 CNTN5,CNTN5,CNTN5,CNTN5 EXON Missense_V853I,Missense_V853I,Missense_V853I,Missense_V779I exm950123 11 100170119 [C/G] NM_014361,NM_001243270,NM_001243271,NM_175566 CNTN5,CNTN5,CNTN5,CNTN5 EXON Missense_A871P,Missense_A871P,Missense_A871P,Missense_A797P exm2274524 11 100221580 [A/C] NM_014361,NM_001243270,NM_175566 CNTN5,CNTN5,CNTN5 EXON Missense_I1060L,Missense_I1060L,Missense_I986L exm950146 11 100226883 [A/T] NM_014361,NM_001243270,NM_175566 CNTN5,CNTN5,CNTN5 EXON Missense_S1079T,Missense_S1079T,Missense_S1005T exm2249506 11 100470306 [A/G] exm2249507 11 100558520 [A/G] NM_152432 ARHGAP42 EXON Synonymous_K37K exm950167 11 100820663 [A/G] NM_152432 ARHGAP42 EXON Missense_A380T exm950176 11 100844036 [A/G] NM_152432 ARHGAP42 EXON Missense_V561I exm950185 11 100847069 [A/G] NM_152432 ARHGAP42 EXON Missense_V713I exm950188 11 100847560 [A/C] NM_152432 ARHGAP42 EXON Missense_S751R exm-rs551632 11 100856955 [T/C] NM_152432 ARHGAP42 Silent exm950193 11 100863055 [T/C] NM_032021 TMEM133 EXON Missense_C6R exm950199 11 100863164 [A/T] NM_032021 TMEM133 EXON Missense_Y42F exm950200 11 100863196 [T/C] NM_032021 TMEM133 EXON Missense_F53L exm950202 11 100863246 [T/G] NM_032021 TMEM133 EXON Missense_F69L exm950203 11 100863293 [A/G] NM_032021 TMEM133 EXON Missense_N85S exm950205 11 100863319 [A/C] NM_032021 TMEM133 EXON Missense_N94H exm950231 11 100922293 [T/C] NM_000926,NR_073143,NM_001202474,NR_073141,NM_001271161,NM_001271162,NR_073142 PGR,PGR,PGR,PGR,PGR,PGR,PGR EXON Missense_R740Q,Silent,Missense_R576Q,Silent,Missense_R474Q,Missense_R146Q,Silent exm950238 11 100933344 [C/G] NM_000926,NR_073143,NM_001202474,NR_073141,NM_001271161,NM_001271162,NR_073142 PGR,PGR,PGR,PGR,PGR,PGR,PGR EXON Missense_Q682H,Silent,Missense_Q518H,Silent,Silent,Missense_Q88H,Silent exm950244 11 100933412 [A/C] NM_000926,NR_073143,NM_001202474,NR_073141,NM_001271161,NM_001271162,NR_073142 PGR,PGR,PGR,PGR,PGR,PGR,PGR EXON Missense_V660L,Silent,Missense_V496L,Silent,Silent,Missense_V66L,Silent exm950245 11 100933439 [C/G] NM_000926,NR_073143,NM_001202474,NR_073141,NM_001271161,NM_001271162,NR_073142 PGR,PGR,PGR,PGR,PGR,PGR,PGR EXON Missense_L651V,Silent,Missense_L487V,Silent,Silent,Missense_L57V,Silent exm950256 11 100998195 [T/G] NM_000926,NR_073143,NM_001202474,NR_073141,NM_001271161,NM_001271162,NR_073142 PGR,PGR,PGR,PGR,PGR,PGR,PGR EXON Missense_Q536P,Silent,Missense_Q372P,Silent,Missense_Q372P,Silent,Silent exm950265 11 100998472 [A/C] NM_000926,NR_073143,NM_001202474,NR_073141,NM_001271161,NM_001271162,NR_073142 PGR,PGR,PGR,PGR,PGR,PGR,PGR EXON Missense_A444S,Silent,Missense_A280S,Silent,Missense_A280S,Silent,Silent exm950283 11 100998762 [G/C] NM_000926,NR_073143,NM_001202474,NR_073141,NM_001271161,NM_001271162,NR_073142 PGR,PGR,PGR,PGR,PGR,PGR,PGR EXON Missense_C347S,Silent,Missense_C183S,Silent,Missense_C183S,Silent,Silent exm950290 11 100998944 [G/C] NM_000926,NR_073143,NM_001202474,NR_073141,NM_001271161,NM_001271162,NR_073142 PGR,PGR,PGR,PGR,PGR,PGR,PGR EXON Missense_D286E,Silent,Missense_D122E,Silent,Missense_D122E,Silent,Silent exm950296 11 100999245 [A/G] NM_000926,NR_073143,NM_001202474,NR_073141,NM_001271161,NM_001271162,NR_073142 PGR,PGR,PGR,PGR,PGR,PGR,PGR EXON Missense_P186L,Silent,Missense_P22L,Silent,Missense_P22L,Silent,Silent exm950304 11 100999443 [A/G] NM_000926,NR_073143,NM_001202474,NR_073141,NM_001271161,NM_001271162,NR_073142 PGR,PGR,PGR,PGR,PGR,PGR,PGR EXON Missense_A120V,Silent,Silent,Silent,Silent,Silent,Silent exm950311 11 100999579 [T/G] NM_000926,NR_073143,NM_001202474,NR_073141,NM_001271161,NM_001271162,NR_073142 PGR,PGR,PGR,PGR,PGR,PGR,PGR EXON Missense_Q75K,Silent,Silent,Silent,Silent,Silent,Silent exm950313 11 100999650 [A/G] NM_000926,NR_073143,NM_001202474,NR_073141,NM_001271161,NM_001271162,NR_073142 PGR,PGR,PGR,PGR,PGR,PGR,PGR EXON Missense_I51T,Silent,Silent,Silent,Silent,Silent,Silent exm2267290 11 101114519 [A/G] exm2249508 11 101191166 [A/G] exm2273484 11 101323646 [A/C] NM_004621 TRPC6 EXON Silent exm950323 11 101323712 [A/G] NM_004621 TRPC6 EXON Missense_P924S exm950326 11 101323771 [T/C] NM_004621 TRPC6 EXON Missense_Q904R exm950371 11 101359750 [A/G] NM_004621 TRPC6 EXON Missense_A404V exm2217788 11 101374966 [A/G] NM_004621 TRPC6 EXON Missense_I245T exm950396 11 101375272 [T/C] NM_004621 TRPC6 EXON Missense_N143S exm950400 11 101375326 [T/C] NM_004621 TRPC6 EXON Missense_N125S exm950411 11 101375528 [A/G] NM_004621 TRPC6 EXON Missense_R58W exm950425 11 101762019 [A/C] NM_178127 ANGPTL5 EXON Nonsense_Y386X exm1691902 11 101762191 [T/C] NM_178127 ANGPTL5 EXON Missense_N329S exm950434 11 101762195 [A/G] NM_178127 ANGPTL5 EXON Missense_H328Y exm2217808 11 101762206 [T/C] NM_178127 ANGPTL5 EXON Missense_C324Y exm950437 11 101762252 [T/C] NM_178127 ANGPTL5 EXON Missense_G309R exm950441 11 101762270 [A/G] NM_178127 ANGPTL5 EXON Missense_S303P exm950447 11 101765628 [A/G] NM_178127 ANGPTL5 EXON Missense_R277W exm950449 11 101765652 [T/C] NM_178127 ANGPTL5 EXON Missense_R269G exm950450 11 101765654 [A/G] NM_178127 ANGPTL5 EXON Missense_T268M exm2249515 11 101765698 [A/G] NM_178127 ANGPTL5 EXON Synonymous_T253T exm950452 11 101765699 [C/G] NM_178127 ANGPTL5 EXON Missense_T253S exm2217810 11 101771237 [T/C] NM_178127 ANGPTL5 EXON Missense_I195M exm950463 11 101771248 [A/G] NM_178127 ANGPTL5 EXON Missense_R192W exm950467 11 101773369 [A/G] NM_178127 ANGPTL5 EXON Missense_S175P exm950478 11 101776527 [A/G] NM_178127 ANGPTL5 EXON Missense_L98P exm950482 11 101777858 [A/G] NM_178127 ANGPTL5 EXON Nonsense_R73X exm950492 11 101786028 [T/A] NM_178127,NM_020802 ANGPTL5,KIAA1377 EXON Silent,Missense_R5W exm950496 11 101786095 [G/C] NM_178127,NM_020802 ANGPTL5,KIAA1377 EXON Silent,Missense_P27R exm950508 11 101815106 [A/G] NM_020802 KIAA1377 EXON Missense_R120H exm950511 11 101818795 [A/C] NM_020802 KIAA1377 EXON Missense_A143D exm950512 11 101818803 [G/C] NM_020802 KIAA1377 EXON Missense_Q146E exm950516 11 101828903 [A/G] NM_020802 KIAA1377 EXON Missense_I171V exm950517 11 101828924 [A/G] NM_020802 KIAA1377 EXON Missense_A178T exm950520 11 101828970 [A/G] NM_020802 KIAA1377 EXON Missense_K193R exm950521 11 101829006 [A/G] NM_020802 KIAA1377 EXON Missense_R205K exm950522 11 101829042 [T/A] NM_020802 KIAA1377 EXON Missense_L217H exm950527 11 101829071 [A/G] NM_020802 KIAA1377 EXON Missense_E227K exm950529 11 101832478 [T/G] NM_020802 KIAA1377 EXON Missense_G238C exm950533 11 101832590 [A/C] NM_020802 KIAA1377 EXON Missense_S275Y exm950535 11 101832608 [T/C] NM_020802 KIAA1377 EXON Missense_I281T exm950539 11 101832670 [A/G] NM_020802 KIAA1377 EXON Missense_A302T exm950540 11 101832689 [T/A] NM_020802 KIAA1377 EXON Missense_H308L exm950547 11 101832880 [T/C] NM_020802 KIAA1377 EXON Missense_S372P exm950553 11 101833020 [A/C] NM_020802 KIAA1377 EXON Missense_S418R exm950555 11 101833122 [T/G] NM_020802 KIAA1377 EXON Missense_I452M exm950558 11 101833267 [A/G] NM_020802 KIAA1377 EXON Missense_K501E exm950570 11 101833580 [A/G] NM_020802 KIAA1377 EXON Missense_K605R exm950573 11 101833632 [A/C] NM_020802 KIAA1377 EXON Missense_E622D exm950576 11 101833768 [A/G] NM_020802 KIAA1377 EXON Missense_G668S exm950580 11 101833890 [T/A] NM_020802 KIAA1377 EXON Missense_H708Q exm950581 11 101833894 [T/C] NM_020802 KIAA1377 EXON Missense_P710S exm950582 11 101833899 [T/G] NM_020802 KIAA1377 EXON Missense_L711F exm950583 11 101833975 [A/C] NM_020802 KIAA1377 EXON Missense_P737T exm950592 11 101834122 [A/C] NM_020802 KIAA1377 EXON Missense_K786Q exm950597 11 101834306 [A/G] NM_020802 KIAA1377 EXON Missense_E847G exm950607 11 101834465 [A/G] NM_020802 KIAA1377 EXON Missense_R900Q exm950608 11 101834474 [T/C] NM_020802 KIAA1377 EXON Missense_A903V exm950611 11 101834591 [A/G] NM_020802 KIAA1377 EXON Missense_H942R exm950614 11 101849078 [A/G] NM_020802 KIAA1377 EXON Missense_G949E exm950615 11 101849102 [A/G] NM_020802 KIAA1377 EXON Missense_R957Q exm950616 11 101849120 [A/G] NM_020802 KIAA1377 EXON Missense_R963Q exm950617 11 101849123 [T/G] NM_020802 KIAA1377 EXON Missense_R964I exm950622 11 101857590 [T/C] NM_020802 KIAA1377 EXON Missense_M1021T exm950629 11 101857758 [A/G] NM_020802 KIAA1377 EXON Missense_S1077N exm950637 11 101918569 [T/C] NM_032930,NM_001195005 C11orf70,C11orf70 EXON Missense_A45V,Missense_A45V exm2267217 11 101919831 [A/G] NM_032930,NM_001195005 C11orf70,C11orf70 Silent,Silent exm950642 11 101929618 [T/C] NM_032930,NM_001195005 C11orf70,C11orf70 EXON Missense_F67S,Missense_F67S exm950660 11 101953816 [A/G] NM_032930 C11orf70 EXON Missense_M230I exm950665 11 101953880 [T/C] NM_032930 C11orf70 EXON Missense_R252C exm950676 11 101984908 [A/G] NM_001195044,NM_001130145,NM_006106,NM_001195045 YAP1,YAP1,YAP1,YAP1 EXON Missense_T119A,Missense_T119A,Missense_T119A,Silent exm950688 11 102076653 [T/C] NM_001195044,NM_001130145,NM_006106,NM_001195045 YAP1,YAP1,YAP1,YAP1 EXON Missense_P278S,Missense_P278S,Missense_P240S,Missense_P100S exm950689 11 102076717 [A/G] NM_001195044,NM_001130145,NM_006106,NM_001195045 YAP1,YAP1,YAP1,YAP1 EXON Missense_N299S,Missense_N299S,Missense_N261S,Missense_N121S exm-rs2852894 11 102155474 [A/G] exm950729 11 102195629 [A/C] NM_182962,NM_001165 BIRC3,BIRC3 EXON Missense_N130T,Missense_N130T exm950740 11 102195962 [A/G] NM_182962,NM_001165 BIRC3,BIRC3 EXON Missense_D241G,Missense_D241G exm950742 11 102196019 [A/G] NM_182962,NM_001165 BIRC3,BIRC3 EXON Missense_K260R,Missense_K260R exm950748 11 102198823 [T/C] NM_182962,NM_001165 BIRC3,BIRC3 EXON Missense_R332C,Missense_R332C exm950766 11 102201799 [T/C] NM_182962,NM_001165 BIRC3,BIRC3 EXON Missense_A384V,Missense_A384V exm2217824 11 102201804 [A/G] NM_182962,NM_001165 BIRC3,BIRC3 EXON Missense_V386M,Missense_V386M exm950778 11 102206865 [T/C] NM_182962,NM_001165 BIRC3,BIRC3 EXON Missense_T498M,Missense_T498M exm1692119 11 102220598 [A/G] NM_001166,NM_001256166,NM_001256163 BIRC2,BIRC2,BIRC2 EXON Missense_A5T,Silent,Missense_A5T exm950795 11 102220689 [A/G] NM_001166,NM_001256166,NM_001256163 BIRC2,BIRC2,BIRC2 EXON Missense_N35S,Silent,Missense_N35S exm950796 11 102220748 [A/G] NM_001166,NM_001256166,NM_001256163 BIRC2,BIRC2,BIRC2 EXON Missense_T55A,Missense_T6A,Missense_T55A exm950808 11 102220995 [A/G] NM_001166,NM_001256166,NM_001256163 BIRC2,BIRC2,BIRC2 EXON Missense_H137R,Missense_H88R,Missense_H137R exm950815 11 102221160 [A/G] NM_001166,NM_001256166,NM_001256163 BIRC2,BIRC2,BIRC2 EXON Missense_H192R,Missense_H143R,Missense_H192R exm950818 11 102221307 [A/G] NM_001166,NM_001256166,NM_001256163 BIRC2,BIRC2,BIRC2 EXON Missense_R241Q,Missense_R192Q,Missense_R241Q exm950838 11 102239272 [A/G] NM_001166,NM_001256166,NM_001256163 BIRC2,BIRC2,BIRC2 EXON Missense_M453I,Missense_M404I,Missense_M453I exm950847 11 102248406 [A/G] NM_001166,NM_001256166,NM_001256163 BIRC2,BIRC2,BIRC2 EXON Missense_K516E,Missense_K467E,Missense_K516E exm950850 11 102248482 [T/G] NM_001166,NM_001256166,NM_001256163 BIRC2,BIRC2,BIRC2 Silent,Silent,Silent exm950851 11 102248611 [T/C] NM_001166,NM_001256166,NM_001256163 BIRC2,BIRC2,BIRC2 EXON Missense_P549S,Missense_P500S,Missense_P549S exm2259678 11 102259947 [A/G] exm950869 11 102272400 [T/C] NM_052932 TMEM123 EXON Missense_A158T exm950875 11 102272685 [T/C] NM_052932 TMEM123 EXON Missense_H137R exm950878 11 102272800 [T/G] NM_052932 TMEM123 EXON Missense_T99P exm950879 11 102272805 [T/G] NM_052932 TMEM123 EXON Missense_T97K exm950881 11 102272839 [A/C] NM_052932 TMEM123 EXON Missense_V86F exm950884 11 102272884 [T/C] NM_052932 TMEM123 EXON Missense_V71M exm950885 11 102272889 [T/C] NM_052932 TMEM123 EXON Missense_S69N exm950902 11 102394024 [A/G] NM_002423 MMP7 EXON Missense_P241L exm950915 11 102395713 [A/C] NM_002423 MMP7 EXON Missense_D189E exm950916 11 102395724 [A/G] NM_002423 MMP7 EXON Missense_L186F exm950923 11 102398261 [A/G] NM_002423 MMP7 EXON Nonsense_R160X exm950928 11 102398329 [T/C] NM_002423 MMP7 EXON Missense_G137D exm2249519 11 102398391 [A/G] NM_002423 MMP7 EXON Synonymous_Y116Y exm1692187 11 102398587 [A/G] NM_002423 MMP7 EXON Missense_I79T exm950939 11 102398593 [T/C] NM_002423 MMP7 EXON Missense_R77H exm950944 11 102398672 [T/G] NM_002423 MMP7 EXON Missense_N51H exm950947 11 102401335 [T/C] NM_002423 MMP7 EXON Missense_E33K exm950950 11 102401377 [A/G] NM_002423 MMP7 EXON Missense_P19S exm950951 11 102401392 [T/C] NM_002423 MMP7 EXON Missense_G14S exm950952 11 102401411 [A/C] NM_002423 MMP7 EXON Missense_C7W exm950962 11 102449808 [C/G] NM_004771 MMP20 EXON Missense_G438A exm950963 11 102449866 [T/C] NM_004771 MMP20 EXON Missense_E419K exm1692197 11 102464198 [A/G] NM_004771 MMP20 EXON Missense_L407F exm950967 11 102464281 [A/G] NM_004771 MMP20 EXON Missense_P379L exm950973 11 102465460 [A/G] NM_004771 MMP20 EXON Missense_R328W exm950977 11 102477267 [A/G] NM_004771 MMP20 EXON Missense_R318W exm950979 11 102477309 [T/C] NM_004771 MMP20 EXON Missense_A304T exm1692205 11 102477336 [C/G] NM_004771 MMP20 EXON Missense_L295V exm950984 11 102477377 [T/G] NM_004771 MMP20 EXON Missense_T281N exm950986 11 102477395 [A/G] NM_004771 MMP20 EXON Missense_V275A exm950987 11 102477401 [T/C] NM_004771 MMP20 EXON Missense_R273Q exm950988 11 102479669 [A/G] NM_004771 MMP20 EXON Synonymous_Y270Y exm950996 11 102479722 [A/G] NM_004771 MMP20 EXON Missense_P253S exm951007 11 102482489 [A/C] NM_004771 MMP20 EXON Nonsense_G174X exm951008 11 102482504 [T/G] NM_004771 MMP20 EXON Missense_I169L exm951012 11 102482594 [T/C] NM_004771 MMP20 EXON Missense_D139N exm951013 11 102482600 [T/C] NM_004771 MMP20 EXON Missense_E137K exm951015 11 102482620 [A/G] NM_004771 MMP20 EXON Missense_T130I exm951016 11 102482626 [T/G] NM_004771 MMP20 EXON Missense_K128T exm951022 11 102487643 [T/C] NM_004771 MMP20 EXON Missense_M92V exm951023 11 102487663 [T/C] NM_004771 MMP20 EXON Missense_G85E exm951025 11 102487678 [T/C] NM_004771 MMP20 EXON Missense_G80D exm951027 11 102487715 [T/C] NM_004771 MMP20 EXON Missense_M68V exm951034 11 102495959 [A/G] NM_004771 MMP20 EXON Missense_P31L exm951037 11 102495998 [T/G] NM_004771 MMP20 EXON Missense_K18T exm951041 11 102562537 [T/C] NM_022122 MMP27 EXON Missense_G501D exm951046 11 102562624 [C/G] NM_022122 MMP27 EXON Nonsense_S472X exm951049 11 102562700 [T/C] NM_022122 MMP27 EXON Missense_D447N exm951055 11 102563726 [T/C] NM_022122 MMP27 EXON Missense_V414M exm951063 11 102564692 [T/C] NM_022122 MMP27 EXON Missense_V380I exm951067 11 102564767 [G/C] NM_022122 MMP27 EXON Missense_A355P exm951070 11 102564798 [T/C] NM_022122 MMP27 Silent exm951074 11 102565760 [G/C] NM_022122 MMP27 EXON Missense_S324C exm951077 11 102565799 [A/G] NM_022122 MMP27 EXON Missense_T311M exm951078 11 102565820 [A/C] NM_022122 MMP27 EXON Missense_W304L exm951081 11 102567112 [A/G] NM_022122 MMP27 EXON Missense_F298L exm951089 11 102567411 [T/C] NM_022122 MMP27 EXON Missense_I259V exm2249520 11 102571892 [A/G] NM_022122 MMP27 Silent exm951107 11 102573700 [T/C] NM_022122 MMP27 Silent exm2249521 11 102573759 [T/G] NM_022122 MMP27 EXON Synonymous_L144L exm951111 11 102573821 [A/G] NM_022122 MMP27 EXON Nonsense_R124X exm2217833 11 102575349 [T/C] NM_022122 MMP27 EXON Missense_K87R exm951119 11 102575355 [A/G] NM_022122 MMP27 EXON Missense_I85T exm951120 11 102575379 [T/C] NM_022122 MMP27 EXON Missense_K77R exm2276207 11 102575407 [A/C] NM_022122 MMP27 EXON Missense_A68S exm1692282 11 102575508 [T/A] NM_022122 MMP27 Silent exm951126 11 102576358 [T/C] NM_022122 MMP27 EXON Missense_M30V exm951127 11 102576375 [A/G] NM_022122 MMP27 EXON Missense_T24M exm951128 11 102576382 [A/G] NM_022122 MMP27 EXON Missense_R22W exm951129 11 102576391 [A/G] NM_022122 MMP27 EXON Missense_P19S exm951131 11 102576468 [A/C] NM_022122 MMP27 EXON Silent exm951136 11 102584096 [T/C] NM_002424 MMP8 EXON Missense_N463D exm951137 11 102584104 [T/G] NM_002424 MMP8 EXON Missense_K460T exm951138 11 102584135 [A/G] NM_002424 MMP8 EXON Nonsense_Q450X exm1692293 11 102584154 [A/G] NM_002424 MMP8 EXON Synonymous_Y443Y exm951140 11 102584176 [A/G] NM_002424 MMP8 EXON Missense_V436A exm951145 11 102584494 [C/G] NM_002424 MMP8 EXON Missense_Q429E exm951151 11 102585288 [T/G] NM_002424 MMP8 EXON Synonymous_R397R exm951153 11 102585357 [T/C] NM_002424 MMP8 EXON Missense_V374I exm951166 11 102586142 [A/G] NM_002424 MMP8 EXON Missense_L310P exm2217835 11 102587037 [T/C] NM_002424 MMP8 EXON Missense_D300N exm951177 11 102587151 [T/C] NM_002424 MMP8 Silent exm2275242 11 102587152 [T/C] NM_002424 MMP8 Silent exm-IND11-102094357 11 102589148 [D/I] NM_002424 MMP8 EXON exm951187 11 102589238 [A/G] NM_002424 MMP8 EXON Missense_P231S exm951196 11 102592224 [T/C] NM_002424 MMP8 EXON Missense_N177S exm951200 11 102592380 [T/C] NM_002424 MMP8 EXON Missense_G154E exm1692309 11 102592381 [A/C] NM_002424 MMP8 EXON Nonsense_G154X exm951204 11 102592488 [T/C] NM_002424 MMP8 EXON Missense_R118Q exm951206 11 102593170 [A/C] NM_002424 MMP8 EXON Missense_L113V exm951208 11 102593202 [A/G] NM_002424 MMP8 EXON Missense_T102I exm951210 11 102593217 [T/C] NM_002424 MMP8 EXON Missense_G97D exm2249522 11 102593237 [A/G] NM_002424 MMP8 EXON Synonymous_R90R exm951211 11 102593237 [A/G] NM_002424 MMP8 EXON Synonymous_R90R exm951212 11 102593248 [T/C] NM_002424 MMP8 EXON Missense_K87E exm951213 11 102593266 [T/C] NM_002424 MMP8 EXON Missense_E81K exm951215 11 102593329 [T/C] NM_002424 MMP8 EXON Missense_V60I exm951219 11 102595487 [A/G] NM_002424 MMP8 EXON Nonsense_Q34X exm951220 11 102595492 [A/G] NM_002424 MMP8 EXON Missense_T32I exm951227 11 102595570 [A/G] NM_002424 MMP8 EXON Missense_T6M exm951228 11 102595579 [G/C] NM_002424 MMP8 EXON Missense_S3C exm951234 11 102641531 [A/T] NM_002425 MMP10 EXON Missense_H475L exm951237 11 102641592 [A/C] NM_002425 MMP10 EXON Missense_F455V exm951238 11 102641607 [T/C] NM_002425 MMP10 EXON Missense_S450G exm951240 11 102642753 [T/A] NM_002425 MMP10 EXON Missense_L440F exm951248 11 102643598 [A/C] NM_002425 MMP10 EXON Missense_F402L exm951249 11 102643604 [T/G] NM_002425 MMP10 EXON Nonsense_Y400X exm951251 11 102643636 [A/C] NM_002425 MMP10 EXON Missense_A390S exm951264 11 102646042 [A/G] NM_002425 MMP10 EXON Nonsense_R315X exm951266 11 102647057 [T/C] NM_002425 MMP10 EXON Missense_D296N exm951271 11 102647098 [T/C] NM_002425 MMP10 EXON Missense_G282E exm951274 11 102647143 [T/G] NM_002425 MMP10 EXON Missense_A267D exm951283 11 102647396 [A/G] NM_002425 MMP10 EXON Missense_L245P exm951301 11 102649482 [T/C] NM_002425 MMP10 Silent exm951309 11 102650042 [A/G] NM_002425 MMP10 EXON Missense_I133T exm951313 11 102650268 [T/A] NM_002425 MMP10 EXON Missense_M105K exm951322 11 102650389 [T/C] NM_002425 MMP10 EXON Missense_G65R exm951325 11 102650424 [T/C] NM_002425 MMP10 EXON Missense_R53K exm951328 11 102651313 [C/G] NM_002425 MMP10 EXON Missense_L4V exm951332 11 102661164 [T/C] NR_038390,NM_002421,NM_001145938 WTAPP1,MMP1,MMP1 EXON Silent,Nonsense_W463X,Nonsense_W397X exm951337 11 102661252 [A/C] NR_038390,NM_002421,NM_001145938 WTAPP1,MMP1,MMP1 EXON Silent,Missense_G434V,Missense_G368V exm951340 11 102661433 [A/C] NR_038390,NM_002421,NM_001145938 WTAPP1,MMP1,MMP1 Silent,Silent,Silent exm1692362 11 102661435 [A/G] NR_038390,NM_002421,NM_001145938 WTAPP1,MMP1,MMP1 EXON Silent,Synonymous_D433D,Synonymous_D367D exm951346 11 102661518 [T/A] NR_038390,NM_002421,NM_001145938 WTAPP1,MMP1,MMP1 EXON Silent,Missense_S406T,Missense_S340T exm2217840 11 102661520 [T/C] NR_038390,NM_002421,NM_001145938 WTAPP1,MMP1,MMP1 EXON Silent,Missense_R405Q,Missense_R339Q exm951347 11 102661521 [A/G] NR_038390,NM_002421,NM_001145938 WTAPP1,MMP1,MMP1 EXON Silent,Nonsense_R405X,Nonsense_R339X exm951348 11 102661537 [T/C] NR_038390,NM_002421,NM_001145938 WTAPP1,MMP1,MMP1 EXON Silent,Synonymous_R399R,Synonymous_R333R exm951350 11 102662065 [T/C] NR_038390,NM_002421,NM_001145938 WTAPP1,MMP1,MMP1 EXON Silent,Missense_R399G,Missense_R333G exm951352 11 102662116 [A/G] NR_038390,NM_002421,NM_001145938 WTAPP1,MMP1,MMP1 EXON Silent,Missense_S382P,Missense_S316P exm951353 11 102662140 [T/C] NR_038390,NM_002421,NM_001145938 WTAPP1,MMP1,MMP1 EXON Silent,Missense_V374M,Missense_V308M exm951355 11 102662212 [T/C] NR_038390,NM_002421,NM_001145938 WTAPP1,MMP1,MMP1 EXON Silent,Missense_A350T,Missense_A284T exm2274525 11 102663449 [A/G] NR_038390,NM_002421,NM_001145938 WTAPP1,MMP1,MMP1 EXON Silent,Missense_P307L,Missense_P241L exm951358 11 102663456 [T/C] NR_038390,NM_002421,NM_001145938 WTAPP1,MMP1,MMP1 EXON Silent,Missense_T305A,Missense_T239A exm951364 11 102665936 [T/G] NR_038390,NM_002421,NM_001145938 WTAPP1,MMP1,MMP1 EXON Silent,Missense_I290L,Missense_I224L exm951373 11 102666209 [T/C] NR_038390,NM_002421,NM_001145938 WTAPP1,MMP1,MMP1 EXON Silent,Missense_D252G,Missense_D186G exm951381 11 102667449 [T/C] NR_038390,NM_002421,NM_001145938 WTAPP1,MMP1,MMP1 EXON Silent,Missense_I191V,Missense_I125V exm951385 11 102667515 [A/G] NR_038390,NM_002421,NM_001145938 WTAPP1,MMP1,MMP1 EXON Silent,Missense_R169W,Missense_R103W exm951389 11 102667879 [A/G] NR_038390,NM_002421,NM_001145938 WTAPP1,MMP1,MMP1 EXON Silent,Missense_T122M,Missense_T56M exm951391 11 102667986 [T/C] NR_038390,NM_002421,NM_001145938 WTAPP1,MMP1,MMP1 Silent,Silent,Silent exm951394 11 102668051 [T/C] NR_038390,NM_002421,NM_001145938 WTAPP1,MMP1,MMP1 EXON Silent,Missense_D96N,Missense_D30N exm951397 11 102668111 [T/G] NR_038390,NM_002421,NM_001145938 WTAPP1,MMP1,MMP1 EXON Silent,Missense_T76P,Missense_T10P exm951400 11 102668159 [C/G] NR_038390,NM_002421,NM_001145938 WTAPP1,MMP1,MMP1 EXON Silent,Missense_V60L,Silent exm951401 11 102668176 [T/C] NR_038390,NM_002421,NM_001145938 WTAPP1,MMP1,MMP1 EXON Silent,Missense_R54Q,Silent exm951406 11 102668717 [A/G] NR_038390,NM_002421,NM_001145938 WTAPP1,MMP1,MMP1 Silent,Silent,Silent exm1692381 11 102668756 [A/G] NR_038390,NM_002421,NM_001145938 WTAPP1,MMP1,MMP1 EXON Silent,Missense_T23I,Silent exm-rs11225434 11 102691482 [T/C] NR_038390 WTAPP1 Silent exm-rs495366 11 102695108 [A/G] NR_038390 WTAPP1 Silent exm951426 11 102709358 [T/C] NM_002422 MMP3 EXON Missense_V385M exm951445 11 102710840 [T/G] NM_002422 MMP3 EXON Synonymous_R312R exm951459 11 102710982 [T/C] NM_002422 MMP3 EXON Synonymous_G264G exm951462 11 102711201 [T/C] NM_002422 MMP3 EXON Missense_R250H exm951464 11 102711208 [A/G] NM_002422 MMP3 EXON Missense_R248W exm951471 11 102712886 [T/C] NM_002422 MMP3 EXON Synonymous_T208T exm951474 11 102712951 [A/G] NM_002422 MMP3 EXON Missense_P187S exm951491 11 102713406 [T/C] NM_002422 MMP3 EXON Missense_Y116C exm1692408 11 102713560 [A/G] NM_002422 MMP3 EXON Nonsense_R65X exm951505 11 102713620 [T/C] NM_002422 MMP3 EXON Missense_K45E exm951506 11 102713627 [A/G] NM_002422 MMP3 EXON Synonymous_Y42Y exm951507 11 102714193 [T/C] NM_002422 MMP3 EXON Missense_T29A exm951527 11 102736642 [T/C] NM_002426 MMP12 EXON Missense_I357V exm951528 11 102736647 [A/G] NM_002426 MMP12 EXON Missense_L355S exm951531 11 102738045 [A/G] NM_002426 MMP12 EXON Missense_M289T exm951532 11 102738075 [T/C] NM_002426 MMP12 EXON Missense_Q279R exm1692426 11 102738103 [T/C] NM_002426 MMP12 EXON Missense_A270T exm951536 11 102738680 [T/C] NM_002426 MMP12 EXON Missense_A249T exm951537 11 102738681 [T/G] NM_002426 MMP12 EXON Missense_F248L exm951539 11 102738739 [A/G] NM_002426 MMP12 EXON Missense_L229P exm951540 11 102738764 [G/C] NM_002426 MMP12 EXON Missense_A221P exm951545 11 102742539 [T/C] NM_002426 MMP12 EXON Missense_R165H exm951547 11 102742592 [A/C] NM_002426 MMP12 EXON Missense_L147F exm951553 11 102742653 [T/C] NM_002426 MMP12 EXON Missense_R127H exm2267219 11 102804933 [A/G] exm951564 11 102815039 [A/G] NM_002427 MMP13 EXON Missense_R458C exm951565 11 102815075 [T/C] NM_002427 MMP13 EXON Missense_G446R exm951573 11 102816476 [T/C] NM_002427 MMP13 EXON Missense_Y405C exm951576 11 102818662 [T/C] NM_002427 MMP13 EXON Missense_D390G exm951577 11 102818714 [T/G] NM_002427 MMP13 EXON Missense_L373M exm951581 11 102818756 [A/C] NM_002427 MMP13 EXON Missense_G359C exm951582 11 102819837 [A/G] NM_002427 MMP13 EXON Missense_T323M exm951584 11 102819870 [T/C] NM_002427 MMP13 EXON Missense_H312R exm951587 11 102820900 [T/G] NM_002427 MMP13 EXON Missense_P286T exm951600 11 102822878 [A/G] NM_002427 MMP13 EXON Missense_A221V exm951604 11 102825010 [T/C] NM_002427 MMP13 EXON Missense_E171G exm951605 11 102825189 [T/G] NM_002427 MMP13 EXON Missense_K170T exm951607 11 102825226 [T/C] NM_002427 MMP13 EXON Missense_D158N exm951613 11 102826042 [A/C] NM_002427 MMP13 EXON Missense_V101L exm951619 11 102826153 [T/G] NM_002427 MMP13 EXON Missense_M64L exm951628 11 102826383 [A/G] NM_002427 MMP13 EXON Missense_R18W exm951629 11 102826412 [A/G] NM_002427 MMP13 EXON Missense_A8V exm951635 11 102933101 [T/C] NM_032299 DCUN1D5 EXON Missense_R234H exm951639 11 102935066 [T/C] NM_032299 DCUN1D5 EXON Missense_N199S exm951653 11 102960013 [T/A] NM_032299 DCUN1D5 EXON Missense_S41C exm951672 11 102984387 [A/G] NM_001080463,NM_001377 DYNC2H1,DYNC2H1 EXON Missense_S106N,Missense_S106N exm951676 11 102985957 [A/G] NM_001080463,NM_001377 DYNC2H1,DYNC2H1 EXON Missense_R185H,Missense_R185H exm1692542 11 102985987 [T/C] NM_001080463,NM_001377 DYNC2H1,DYNC2H1 EXON Missense_A195V,Missense_A195V exm1692551 11 102988361 [T/C] NM_001080463,NM_001377 DYNC2H1,DYNC2H1 EXON Synonymous_G256G,Synonymous_G256G exm951684 11 102988504 [A/T] NM_001080463,NM_001377 DYNC2H1,DYNC2H1 EXON Missense_Q304L,Missense_Q304L exm951685 11 102988506 [A/G] NM_001080463,NM_001377 DYNC2H1,DYNC2H1 EXON Missense_V305M,Missense_V305M exm951689 11 102991183 [T/C] NM_001080463,NM_001377 DYNC2H1,DYNC2H1 EXON Missense_A336V,Missense_A336V exm951690 11 102991197 [T/C] NM_001080463,NM_001377 DYNC2H1,DYNC2H1 EXON Missense_H341Y,Missense_H341Y exm951692 11 102991467 [T/C] NM_001080463,NM_001377 DYNC2H1,DYNC2H1 EXON Missense_A395V,Missense_A395V exm951694 11 102991668 [A/C] NM_001080463,NM_001377 DYNC2H1,DYNC2H1 EXON Missense_F421L,Missense_F421L exm951701 11 102992107 [A/G] NM_001080463,NM_001377 DYNC2H1,DYNC2H1 EXON Missense_R456Q,Missense_R456Q exm951705 11 102992209 [A/G] NM_001080463,NM_001377 DYNC2H1,DYNC2H1 EXON Missense_R490H,Missense_R490H exm951706 11 102992224 [A/C] NM_001080463,NM_001377 DYNC2H1,DYNC2H1 EXON Missense_K495T,Missense_K495T exm951714 11 102995941 [T/C] NM_001080463,NM_001377 DYNC2H1,DYNC2H1 EXON Missense_L592F,Missense_L592F exm2274526 11 103004335 [A/G] NM_001080463,NM_001377 DYNC2H1,DYNC2H1 EXON Missense_K669E,Missense_K669E exm951726 11 103006228 [A/T] NM_001080463,NM_001377 DYNC2H1,DYNC2H1 EXON Missense_F737Y,Missense_F737Y exm951738 11 103006582 [A/G] NM_001080463,NM_001377 DYNC2H1,DYNC2H1 EXON Missense_I827V,Missense_I827V exm951739 11 103006585 [A/G] NM_001080463,NM_001377 DYNC2H1,DYNC2H1 EXON Missense_M828V,Missense_M828V exm951752 11 103019260 [A/G] NM_001080463,NM_001377 DYNC2H1,DYNC2H1 EXON Missense_E954K,Missense_E954K exm951753 11 103019336 [A/G] NM_001080463,NM_001377 DYNC2H1,DYNC2H1 EXON Missense_R979Q,Missense_R979Q exm951762 11 103024104 [T/C] NM_001080463,NM_001377 DYNC2H1,DYNC2H1 EXON Missense_R1057C,Missense_R1057C exm951763 11 103024105 [A/G] NM_001080463,NM_001377 DYNC2H1,DYNC2H1 EXON Missense_R1057H,Missense_R1057H exm951764 11 103024116 [G/C] NM_001080463,NM_001377 DYNC2H1,DYNC2H1 EXON Missense_L1061V,Missense_L1061V exm2249523 11 103025261 [A/C] NM_001080463,NM_001377 DYNC2H1,DYNC2H1 EXON Synonymous_A1128A,Synonymous_A1128A exm951768 11 103025296 [T/G] NM_001080463,NM_001377 DYNC2H1,DYNC2H1 EXON Missense_G1140V,Missense_G1140V exm951770 11 103025465 [A/G] NM_001080463,NM_001377 DYNC2H1,DYNC2H1 EXON Missense_H1167R,Missense_H1167R exm951774 11 103026093 [A/G] NM_001080463,NM_001377 DYNC2H1,DYNC2H1 EXON Missense_E1203K,Missense_E1203K exm951777 11 103026168 [A/C] NM_001080463,NM_001377 DYNC2H1,DYNC2H1 EXON Missense_L1228I,Missense_L1228I exm951782 11 103027166 [A/G] NM_001080463,NM_001377 DYNC2H1,DYNC2H1 EXON Missense_R1265H,Missense_R1265H exm951784 11 103027234 [A/G] NM_001080463,NM_001377 DYNC2H1,DYNC2H1 EXON Missense_T1288A,Missense_T1288A exm951785 11 103027246 [A/G] NM_001080463,NM_001377 DYNC2H1,DYNC2H1 EXON Missense_I1292V,Missense_I1292V exm951790 11 103027445 [A/G] NM_001080463,NM_001377 DYNC2H1,DYNC2H1 EXON Missense_R1358H,Missense_R1358H exm951796 11 103029516 [A/G] NM_001080463,NM_001377 DYNC2H1,DYNC2H1 EXON Missense_K1413R,Missense_K1413R exm951807 11 103033841 [A/C] NM_001080463,NM_001377 DYNC2H1,DYNC2H1 EXON Missense_Q1526K,Missense_Q1526K exm951810 11 103036743 [C/G] NM_001080463,NM_001377 DYNC2H1,DYNC2H1 EXON Missense_N1576K,Missense_N1576K exm951816 11 103039637 [A/C] NM_001080463,NM_001377 DYNC2H1,DYNC2H1 EXON Missense_T1639K,Missense_T1639K exm951821 11 103040915 [T/C] NM_001080463,NM_001377 DYNC2H1,DYNC2H1 EXON Missense_L1683F,Missense_L1683F exm951836 11 103043919 [A/G] NM_001080463,NM_001377 DYNC2H1,DYNC2H1 EXON Missense_V1815I,Missense_V1815I exm951837 11 103043925 [A/G] NM_001080463,NM_001377 DYNC2H1,DYNC2H1 EXON Missense_M1817V,Missense_M1817V exm951838 11 103043949 [A/G] NM_001080463,NM_001377 DYNC2H1,DYNC2H1 EXON Missense_I1825V,Missense_I1825V exm951847 11 103044867 [A/G] NM_001080463,NM_001377 DYNC2H1,DYNC2H1 EXON Missense_R1881K,Missense_R1881K exm951849 11 103046984 [A/G] NM_001080463,NM_001377 DYNC2H1,DYNC2H1 EXON Missense_V1899I,Missense_V1899I exm951854 11 103047087 [A/G] NM_001080463,NM_001377 DYNC2H1,DYNC2H1 EXON Missense_E1933G,Missense_E1933G exm951860 11 103048457 [A/G] NM_001080463,NM_001377 DYNC2H1,DYNC2H1 EXON Missense_Y2016C,Missense_Y2016C exm951870 11 103049922 [A/T] NM_001080463,NM_001377 DYNC2H1,DYNC2H1 EXON Missense_S2103T,Missense_S2103T exm951877 11 103055698 [T/A] NM_001080463,NM_001377 DYNC2H1,DYNC2H1 EXON Missense_D2184V,Missense_D2184V exm951887 11 103057106 [A/G] NM_001080463,NM_001377 DYNC2H1,DYNC2H1 EXON Missense_G2257S,Missense_G2257S exm951905 11 103059283 [A/G] NM_001080463,NM_001377 DYNC2H1,DYNC2H1 EXON Missense_I2400V,Missense_I2400V exm951908 11 103059307 [A/G] NM_001080463,NM_001377 DYNC2H1,DYNC2H1 EXON Missense_A2408T,Missense_A2408T exm951915 11 103060427 [T/C] NM_001080463,NM_001377 DYNC2H1,DYNC2H1 EXON Missense_T2440M,Missense_T2440M exm951922 11 103062861 [A/G] NM_001080463,NM_001377 DYNC2H1,DYNC2H1 EXON Missense_I2526V,Missense_I2526V exm1692679 11 103068689 [A/G] NM_001080463,NM_001377 DYNC2H1,DYNC2H1 EXON Missense_R2579Q,Missense_R2579Q exm951936 11 103070084 [A/G] NM_001080463,NM_001377 DYNC2H1,DYNC2H1 EXON Missense_R2656H,Missense_R2656H exm951938 11 103070158 [A/G] NM_001080463,NM_001377 DYNC2H1,DYNC2H1 EXON Missense_I2681V,Missense_I2681V exm951946 11 103074487 [T/G] NM_001080463,NM_001377 DYNC2H1,DYNC2H1 EXON Missense_F2765V,Missense_F2765V exm951947 11 103075604 [T/C] NM_001080463,NM_001377 DYNC2H1,DYNC2H1 EXON Missense_F2789L,Missense_F2789L exm951948 11 103075609 [A/G] NM_001080463,NM_001377 DYNC2H1,DYNC2H1 EXON Missense_M2790I,Missense_M2790I exm951960 11 103082590 [A/G] NM_001080463,NM_001377 DYNC2H1,DYNC2H1 EXON Missense_R2871Q,Missense_R2871Q exm951965 11 103086537 [A/C] NM_001080463,NM_001377 DYNC2H1,DYNC2H1 EXON Missense_K2928Q,Missense_K2928Q exm951966 11 103086586 [A/G] NM_001080463,NM_001377 DYNC2H1,DYNC2H1 EXON Missense_Q2944R,Missense_Q2944R exm951969 11 103090692 [A/G] NM_001080463,NM_001377 DYNC2H1,DYNC2H1 EXON Missense_A2961T,Missense_A2961T exm951975 11 103091449 [A/G] NM_001080463,NM_001377 DYNC2H1,DYNC2H1 EXON Missense_D3015G,Missense_D3015G exm951977 11 103092809 [A/G] NM_001080463,NM_001377 DYNC2H1,DYNC2H1 EXON Missense_R3053Q,Missense_R3053Q exm951979 11 103093716 [T/C] NM_001080463,NM_001377 DYNC2H1,DYNC2H1 EXON Missense_A3085V,Missense_A3085V exm951983 11 103093811 [A/G] NM_001080463,NM_001377 DYNC2H1,DYNC2H1 EXON Missense_E3117K,Missense_E3117K exm951986 11 103104791 [A/G] NM_001080463,NM_001377 DYNC2H1,DYNC2H1 EXON Missense_K3157E,Missense_K3157E exm951987 11 103104827 [A/G] NM_001080463,NM_001377 DYNC2H1,DYNC2H1 EXON Missense_I3169V,Missense_I3169V exm951992 11 103107198 [A/G] NM_001080463,NM_001377 DYNC2H1,DYNC2H1 EXON Missense_Q3250R,Missense_Q3250R exm951995 11 103107263 [A/T] NM_001080463,NM_001377 DYNC2H1,DYNC2H1 EXON Missense_L3272I,Missense_L3272I exm951996 11 103114467 [C/G] NM_001080463,NM_001377 DYNC2H1,DYNC2H1 EXON Missense_E3296Q,Missense_E3289Q exm952004 11 103124019 [T/C] NM_001080463,NM_001377 DYNC2H1,DYNC2H1 EXON Missense_R3357C,Missense_R3350C exm952016 11 103126969 [A/G] NM_001080463,NM_001377 DYNC2H1,DYNC2H1 EXON Synonymous_Q3494Q,Synonymous_Q3487Q exm952020 11 103128425 [A/G] NM_001080463,NM_001377 DYNC2H1,DYNC2H1 EXON Missense_R3524H,Missense_R3517H exm952021 11 103128448 [T/C] NM_001080463,NM_001377 DYNC2H1,DYNC2H1 EXON Nonsense_R3532X,Nonsense_R3525X exm952023 11 103130659 [T/C] NM_001080463,NM_001377 DYNC2H1,DYNC2H1 EXON Missense_S3557P,Missense_S3550P exm952034 11 103153758 [G/C] NM_001080463,NM_001377 DYNC2H1,DYNC2H1 EXON Missense_D3619H,Missense_D3612H exm952039 11 103157019 [T/G] NM_001080463,NM_001377 DYNC2H1,DYNC2H1 EXON Missense_F3649L,Missense_F3642L exm952042 11 103157059 [A/G] NM_001080463,NM_001377 DYNC2H1,DYNC2H1 EXON Missense_M3663V,Missense_M3656V exm952045 11 103158278 [T/C] NM_001080463,NM_001377 DYNC2H1,DYNC2H1 EXON Missense_A3687V,Missense_A3680V exm952050 11 103173911 [T/C] NM_001080463,NM_001377 DYNC2H1,DYNC2H1 EXON Missense_P3736S,Missense_P3729S exm952053 11 103175330 [A/G] NM_001080463,NM_001377 DYNC2H1,DYNC2H1 EXON Missense_M3762V,Missense_M3755V exm952061 11 103191758 [A/G] NM_001080463,NM_001377 DYNC2H1,DYNC2H1 EXON Missense_G3916D,Missense_G3909D exm952062 11 103191820 [T/C] NM_001080463,NM_001377 DYNC2H1,DYNC2H1 EXON Missense_R3937C,Missense_R3930C exm952063 11 103191854 [A/G] NM_001080463,NM_001377 DYNC2H1,DYNC2H1 EXON Missense_Q3948R,Missense_Q3941R exm952068 11 103191937 [A/G] NM_001080463,NM_001377 DYNC2H1,DYNC2H1 EXON Missense_V3976I,Missense_V3969I exm952075 11 103194686 [A/G] NM_001080463,NM_001377 DYNC2H1,DYNC2H1 EXON Missense_A4010T,Missense_A4003T exm2249525 11 103228973 [T/C] NM_001080463,NM_001377 DYNC2H1,DYNC2H1 EXON Synonymous_V4021V,Synonymous_V4014V exm952080 11 103229013 [T/G] NM_001080463,NM_001377 DYNC2H1,DYNC2H1 EXON Missense_G4035C,Missense_G4028C exm952089 11 103270488 [A/G] NM_001080463,NM_001377 DYNC2H1,DYNC2H1 EXON Missense_R4092H,Missense_R4085H exm952100 11 103326008 [A/G] NM_001080463,NM_001377 DYNC2H1,DYNC2H1 EXON Missense_R4191H,Missense_R4184H exm952104 11 103327079 [A/C] NM_001080463,NM_001377 DYNC2H1,DYNC2H1 EXON Missense_I4222L,Missense_I4215L exm952110 11 103349890 [T/A] NM_001080463,NM_001377 DYNC2H1,DYNC2H1 EXON Missense_D4285V,Missense_D4278V exm952111 11 103349922 [C/G] NM_001080463,NM_001377 DYNC2H1,DYNC2H1 EXON Missense_G4296R,Missense_G4289R exm952114 11 103349966 [A/C] NM_001080463,NM_001377 DYNC2H1,DYNC2H1 EXON Missense_F4310L,Missense_F4303L exm-rs716274 11 103418158 [A/G] exm2267292 11 103498150 [A/G] exm2271548 11 103506972 [T/C] exm-rs974819 11 103660567 [T/C] exm2249527 11 103779025 [A/G] NM_033135,NM_025208 PDGFD,PDGFD EXON Silent,Silent exm952132 11 103797828 [T/C] NM_033135,NM_025208 PDGFD,PDGFD EXON Missense_A261T,Missense_A267T exm-rs10895547 11 103808152 [T/C] NM_033135,NM_025208 PDGFD,PDGFD Silent,Silent exm952135 11 103814192 [A/G] NM_033135,NM_025208 PDGFD,PDGFD EXON Missense_R248W,Missense_R254W exm1692812 11 103814375 [A/C] NM_033135,NM_025208 PDGFD,PDGFD EXON Missense_V187L,Missense_V193L exm952147 11 103818395 [T/C] NM_033135,NM_025208 PDGFD,PDGFD EXON Missense_I184V,Missense_I190V exm2249528 11 103866844 [A/G] NM_033135,NM_025208 PDGFD,PDGFD EXON Synonymous_S147S,Synonymous_S153S exm952158 11 103870839 [T/C] NM_033135,NM_025208 PDGFD,PDGFD EXON Missense_R84Q,Missense_R90Q exm952169 11 103907632 [T/C] NM_033135,NM_025208,NM_001001711 PDGFD,PDGFD,DDI1 EXON Silent,Silent,Nonsense_R28X exm952175 11 103907737 [T/G] NM_033135,NM_025208,NM_001001711 PDGFD,PDGFD,DDI1 EXON Silent,Silent,Missense_S63A exm952176 11 103907809 [T/C] NM_033135,NM_025208,NM_001001711 PDGFD,PDGFD,DDI1 EXON Silent,Silent,Missense_R87C exm952179 11 103907858 [G/C] NM_033135,NM_025208,NM_001001711 PDGFD,PDGFD,DDI1 EXON Silent,Silent,Missense_G103A exm952189 11 103907956 [A/G] NM_033135,NM_025208,NM_001001711 PDGFD,PDGFD,DDI1 EXON Silent,Silent,Missense_G136S exm952191 11 103907971 [A/G] NM_033135,NM_025208,NM_001001711 PDGFD,PDGFD,DDI1 EXON Silent,Silent,Missense_G141S exm952203 11 103908172 [C/G] NM_033135,NM_025208,NM_001001711 PDGFD,PDGFD,DDI1 EXON Silent,Silent,Missense_R208G exm952204 11 103908211 [T/C] NM_033135,NM_025208,NM_001001711 PDGFD,PDGFD,DDI1 EXON Silent,Silent,Nonsense_Q221X exm952206 11 103908233 [A/C] NM_033135,NM_025208,NM_001001711 PDGFD,PDGFD,DDI1 EXON Silent,Silent,Missense_N228T exm952219 11 103908437 [A/G] NM_033135,NM_025208,NM_001001711 PDGFD,PDGFD,DDI1 EXON Silent,Silent,Missense_Q296R exm952221 11 103908517 [A/G] NM_033135,NM_025208,NM_001001711 PDGFD,PDGFD,DDI1 EXON Silent,Silent,Missense_D323N exm1692836 11 103908689 [T/C] NM_033135,NM_025208,NM_001001711 PDGFD,PDGFD,DDI1 EXON Silent,Silent,Missense_S380L exm952227 11 103908693 [A/C] NM_033135,NM_025208,NM_001001711 PDGFD,PDGFD,DDI1 EXON Silent,Silent,Missense_D381E exm952232 11 103908728 [A/G] NM_033135,NM_025208,NM_001001711 PDGFD,PDGFD,DDI1 EXON Silent,Silent,Missense_R393Q exm952236 11 104034619 [T/C] NM_033135,NM_025208 PDGFD,PDGFD EXON Missense_A13T,Missense_A13T exm2271549 11 104418194 [T/C] exm2259683 11 104532836 [A/G] exm952245 11 104761100 [T/C] NM_001191016,NR_034067,NR_034061,NR_034068,NR_034066,NR_034064,NR_034065,NR_034070,NR_034063,NR_034071 CASP12,CASP12,CASP12,CASP12,CASP12,CASP12,CASP12,CASP12,CASP12,CASP12 EXON Missense_H273R,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm952246 11 104761206 [T/C] NM_001191016,NR_034067,NR_034061,NR_034068,NR_034066,NR_034064,NR_034065,NR_034070,NR_034063,NR_034071 CASP12,CASP12,CASP12,CASP12,CASP12,CASP12,CASP12,CASP12,CASP12,CASP12 EXON Missense_G238S,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm952247 11 104761921 [T/C] NM_001191016,NR_034067,NR_034061,NR_034068,NR_034066,NR_034064,NR_034065,NR_034070,NR_034063,NR_034071 CASP12,CASP12,CASP12,CASP12,CASP12,CASP12,CASP12,CASP12,CASP12,CASP12 EXON Missense_I215V,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm952249 11 104762062 [T/C] NM_001191016,NR_034067,NR_034061,NR_034068,NR_034066,NR_034064,NR_034065,NR_034070,NR_034063,NR_034071 CASP12,CASP12,CASP12,CASP12,CASP12,CASP12,CASP12,CASP12,CASP12,CASP12 EXON Missense_V168M,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm952250 11 104763117 [A/G] NM_001191016,NR_034067,NR_034061,NR_034068,NR_034066,NR_034064,NR_034065,NR_034070,NR_034063,NR_034071 CASP12,CASP12,CASP12,CASP12,CASP12,CASP12,CASP12,CASP12,CASP12,CASP12 EXON Nonsense_R125X,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm952253 11 104768000 [A/G] NM_001191016,NR_034067,NR_034061,NR_034068,NR_034066,NR_034064,NR_034065,NR_034070,NR_034063,NR_034071 CASP12,CASP12,CASP12,CASP12,CASP12,CASP12,CASP12,CASP12,CASP12,CASP12 EXON Missense_T68I,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm952255 11 104768141 [A/G] NM_001191016,NR_034067,NR_034061,NR_034068,NR_034066,NR_034064,NR_034065,NR_034070,NR_034063,NR_034071 CASP12,CASP12,CASP12,CASP12,CASP12,CASP12,CASP12,CASP12,CASP12,CASP12 EXON Missense_T21I,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm952262 11 104815575 [A/G] NM_033306,NM_001225 CASP4,CASP4 EXON Nonsense_Q291X,Nonsense_Q347X exm952264 11 104817814 [T/C] NM_033306,NM_001225 CASP4,CASP4 EXON Missense_R288Q,Missense_R344Q exm952266 11 104817822 [T/G] NM_033306,NM_001225 CASP4,CASP4 EXON Missense_E285D,Missense_E341D exm952267 11 104817857 [A/G] NM_033306,NM_001225 CASP4,CASP4 EXON Missense_F274L,Missense_F330L exm952274 11 104819259 [T/C] NM_033306,NM_001225 CASP4,CASP4 Silent,Silent exm952278 11 104819333 [A/C] NM_033306,NM_001225 CASP4,CASP4 EXON Missense_E228D,Missense_E284D exm952302 11 104821708 [T/C] NM_033306,NM_001225 CASP4,CASP4 EXON Missense_E108K,Missense_E164K exm952303 11 104821746 [A/G] NM_033306,NM_001225 CASP4,CASP4 EXON Missense_P95L,Missense_P151L exm952315 11 104825482 [T/C] NM_033306,NM_001225 CASP4,CASP4 EXON Missense_N29S,Missense_N85S exm952321 11 104825597 [T/C] NM_033306,NM_001225 CASP4,CASP4 EXON Silent,Missense_D47N exm952325 11 104825648 [T/C] NM_033306,NM_001225 CASP4,CASP4 EXON Silent,Missense_V30M exm952328 11 104825728 [T/C] NM_033306,NM_001225 CASP4,CASP4 EXON Silent,Missense_E3G exm952329 11 104825729 [T/C] NM_033306,NM_001225 CASP4,CASP4 Silent,Silent exm952330 11 104825730 [T/C] NM_033306,NM_001225 CASP4,CASP4 Silent,Silent exm952341 11 104866515 [A/G] NM_001136112,NM_001136109,NR_036562,NM_004347,NM_001136110,NR_024239 CASP5,CASP5,CASP5,CASP5,CASP5,CASP5 EXON Nonsense_R434X,Nonsense_R363X,Silent,Nonsense_R421X,Nonsense_R279X,Silent exm952342 11 104866520 [A/G] NM_001136112,NM_001136109,NR_036562,NM_004347,NM_001136110,NR_024239 CASP5,CASP5,CASP5,CASP5,CASP5,CASP5 EXON Missense_I432T,Missense_I361T,Silent,Missense_I419T,Missense_I277T,Silent exm952350 11 104868218 [A/G] NM_001136112,NM_001136109,NR_036562,NM_004347,NM_001136110,NR_024239 CASP5,CASP5,CASP5,CASP5,CASP5,CASP5 EXON Synonymous_H379H,Synonymous_H308H,Silent,Synonymous_H366H,Synonymous_H224H,Silent exm952352 11 104869611 [T/C] NM_001136112,NM_001136109,NR_036562,NM_004347,NM_001136110,NR_024239 CASP5,CASP5,CASP5,CASP5,CASP5,CASP5 Silent,Silent,Silent,Silent,Silent,Silent exm952353 11 104869651 [T/C] NM_001136112,NM_001136109,NR_036562,NM_004347,NM_001136110,NR_024239 CASP5,CASP5,CASP5,CASP5,CASP5,CASP5 EXON Missense_E366K,Missense_E295K,Silent,Missense_E353K,Missense_E211K,Silent exm952355 11 104869708 [C/G] NM_001136112,NM_001136109,NR_036562,NM_004347,NM_001136110,NR_024239 CASP5,CASP5,CASP5,CASP5,CASP5,CASP5 EXON Missense_L347V,Missense_L276V,Silent,Missense_L334V,Missense_L192V,Silent exm952367 11 104872823 [C/G] NM_001136112,NM_001136109,NR_036562,NM_004347,NM_001136110,NR_024239 CASP5,CASP5,CASP5,CASP5,CASP5,CASP5 EXON Missense_V230L,Missense_V159L,Silent,Missense_V217L,Missense_V75L,Silent exm952369 11 104872873 [A/T] NM_001136112,NM_001136109,NR_036562,NM_004347,NM_001136110,NR_024239 CASP5,CASP5,CASP5,CASP5,CASP5,CASP5 EXON Missense_N213I,Missense_N142I,Silent,Missense_N200I,Missense_N58I,Silent exm952376 11 104872930 [T/C] NM_001136112,NM_001136109,NR_036562,NM_004347,NM_001136110,NR_024239 CASP5,CASP5,CASP5,CASP5,CASP5,CASP5 Silent,Silent,Silent,Silent,Silent,Silent exm952380 11 104874041 [T/C] NM_001136112,NM_001136109,NR_036562,NM_004347,NM_001136110,NR_024239 CASP5,CASP5,CASP5,CASP5,CASP5,CASP5 EXON Missense_R181H,Missense_R110H,Silent,Missense_R168H,Missense_R26H,Silent exm952386 11 104874111 [G/C] NM_001136112,NM_001136109,NR_036562,NM_004347,NM_001136110,NR_024239 CASP5,CASP5,CASP5,CASP5,CASP5,CASP5 Silent,Silent,Silent,Silent,Silent,Silent exm952392 11 104877873 [T/C] NM_001136112,NM_001136109,NR_036562,NM_004347,NM_001136110,NR_024239 CASP5,CASP5,CASP5,CASP5,CASP5,CASP5 EXON Missense_V137M,Missense_V66M,Silent,Missense_V124M,Silent,Silent exm952393 11 104877875 [T/C] NM_001136112,NM_001136109,NR_036562,NM_004347,NM_001136110,NR_024239 CASP5,CASP5,CASP5,CASP5,CASP5,CASP5 EXON Missense_R136H,Missense_R65H,Silent,Missense_R123H,Silent,Silent exm952396 11 104877927 [T/C] NM_001136112,NM_001136109,NR_036562,NM_004347,NM_001136110,NR_024239 CASP5,CASP5,CASP5,CASP5,CASP5,CASP5 EXON Missense_T119A,Missense_T48A,Silent,Missense_T106A,Silent,Silent exm952401 11 104878012 [T/G] NM_001136112,NM_001136109,NR_036562,NM_004347,NM_001136110,NR_024239 CASP5,CASP5,CASP5,CASP5,CASP5,CASP5 EXON Missense_K90N,Missense_K19N,Silent,Missense_K77N,Silent,Silent exm952402 11 104878019 [A/C] NM_001136112,NM_001136109,NR_036562,NM_004347,NM_001136110,NR_024239 CASP5,CASP5,CASP5,CASP5,CASP5,CASP5 EXON Missense_L88R,Missense_L17R,Silent,Missense_L75R,Silent,Silent exm952409 11 104879560 [A/G] NM_001136112,NM_001136109,NR_036562,NM_004347,NM_001136110,NR_024239 CASP5,CASP5,CASP5,CASP5,CASP5,CASP5 EXON Missense_T65M,Silent,Silent,Missense_T52M,Silent,Silent exm952411 11 104879575 [A/G] NM_001136112,NM_001136109,NR_036562,NM_004347,NM_001136110,NR_024239 CASP5,CASP5,CASP5,CASP5,CASP5,CASP5 EXON Missense_T60I,Silent,Silent,Missense_T47I,Silent,Silent exm952415 11 104879628 [G/C] NM_001136112,NM_001136109,NR_036562,NM_004347,NM_001136110,NR_024239 CASP5,CASP5,CASP5,CASP5,CASP5,CASP5 EXON Missense_F42L,Silent,Silent,Missense_F29L,Silent,Silent exm952417 11 104879656 [A/C] NM_001136112,NM_001136109,NR_036562,NM_004347,NM_001136110,NR_024239 CASP5,CASP5,CASP5,CASP5,CASP5,CASP5 EXON Missense_G33V,Silent,Silent,Missense_G20V,Silent,Silent exm952418 11 104879658 [T/A] NM_001136112,NM_001136109,NR_036562,NM_004347,NM_001136110,NR_024239 CASP5,CASP5,CASP5,CASP5,CASP5,CASP5 EXON Missense_K32N,Silent,Silent,Missense_K19N,Silent,Silent exm2249530 11 104879700 [A/G] NM_001136112,NM_001136109,NR_036562,NM_004347,NM_001136110,NR_024239 CASP5,CASP5,CASP5,CASP5,CASP5,CASP5 EXON Synonymous_S18S,Silent,Silent,Synonymous_S5S,Silent,Silent exm952420 11 104879728 [A/C] NM_001136112,NM_001136109,NR_036562,NM_004347,NM_001136110,NR_024239 CASP5,CASP5,CASP5,CASP5,CASP5,CASP5 EXON Missense_G9V,Silent,Silent,Silent,Silent,Silent exm952432 11 104897049 [A/G] NM_001257118,NM_001223,NM_033294,NM_033295,NM_001257119,NM_033293,NM_033292 CASP1,CASP1,CASP1,CASP1,CASP1,CASP1,CASP1 EXON Missense_A384V,Missense_A363V,Missense_A243V,Missense_A68V,Missense_A363V,Missense_A291V,Missense_A384V exm952439 11 104897574 [A/G] NM_001257118,NM_001223,NM_033294,NM_033295,NM_001257119,NM_033293,NM_033292 CASP1,CASP1,CASP1,CASP1,CASP1,CASP1,CASP1 EXON Missense_R371C,Missense_R350C,Missense_R230C,Missense_R55C,Missense_R350C,Missense_R278C,Missense_R371C exm952440 11 104897616 [T/G] NM_001257118,NM_001223,NM_033294,NM_033295,NM_001257119,NM_033293,NM_033292 CASP1,CASP1,CASP1,CASP1,CASP1,CASP1,CASP1 EXON Missense_M357L,Missense_M336L,Missense_M216L,Missense_M41L,Missense_M336L,Missense_M264L,Missense_M357L exm952448 11 104899901 [T/C] NM_001257118,NM_001223,NM_033294,NM_033295,NM_001257119,NM_033293,NM_033292 CASP1,CASP1,CASP1,CASP1,CASP1,CASP1,CASP1 EXON Missense_K319R,Missense_K298R,Silent,Silent,Missense_K298R,Missense_K226R,Missense_K319R exm952452 11 104900393 [A/G] NM_001257118,NM_001223,NM_033294,NM_033295,NM_001257119,NM_033293,NM_033292 CASP1,CASP1,CASP1,CASP1,CASP1,CASP1,CASP1 EXON Synonymous_G287G,Synonymous_G266G,Synonymous_G194G,Silent,Synonymous_G266G,Synonymous_G194G,Synonymous_G287G exm952455 11 104900466 [T/C] NM_001257118,NM_001223,NM_033294,NM_033295,NM_001257119,NM_033293,NM_033292 CASP1,CASP1,CASP1,CASP1,CASP1,CASP1,CASP1 EXON Missense_N263S,Missense_N242S,Missense_N170S,Silent,Missense_N242S,Missense_N170S,Missense_N263S exm952458 11 104900535 [T/C] NM_001257118,NM_001223,NM_033294,NM_033295,NM_001257119,NM_033293,NM_033292 CASP1,CASP1,CASP1,CASP1,CASP1,CASP1,CASP1 EXON Missense_R240Q,Missense_R219Q,Missense_R147Q,Silent,Missense_R219Q,Missense_R147Q,Missense_R240Q exm952461 11 104900592 [T/C] NM_001257118,NM_001223,NM_033294,NM_033295,NM_001257119,NM_033293,NM_033292 CASP1,CASP1,CASP1,CASP1,CASP1,CASP1,CASP1 EXON Missense_R221H,Missense_R200H,Missense_R128H,Silent,Missense_R200H,Missense_R128H,Missense_R221H exm952462 11 104900593 [A/G] NM_001257118,NM_001223,NM_033294,NM_033295,NM_001257119,NM_033293,NM_033292 CASP1,CASP1,CASP1,CASP1,CASP1,CASP1,CASP1 EXON Missense_R221C,Missense_R200C,Missense_R128C,Silent,Missense_R200C,Missense_R128C,Missense_R221C exm952466 11 104901058 [A/G] NM_001257118,NM_001223,NM_033294,NM_033295,NM_001257119,NM_033293,NM_033292 CASP1,CASP1,CASP1,CASP1,CASP1,CASP1,CASP1 EXON Missense_S209L,Missense_S188L,Missense_S116L,Silent,Missense_S188L,Missense_S116L,Missense_S209L exm952469 11 104901128 [T/C] NM_001257118,NM_001223,NM_033294,NM_033295,NM_001257119,NM_033293,NM_033292 CASP1,CASP1,CASP1,CASP1,CASP1,CASP1,CASP1 EXON Missense_I186V,Missense_I165V,Missense_I93V,Silent,Missense_I165V,Missense_I93V,Missense_I186V exm2249531 11 104905020 [T/C] NM_001257118,NM_001223,NM_033294,NM_033295,NM_001257119,NM_033293,NM_033292 CASP1,CASP1,CASP1,CASP1,CASP1,CASP1,CASP1 EXON Synonymous_P63P,Synonymous_P63P,Silent,Silent,Synonymous_P63P,Silent,Synonymous_P63P exm952506 11 104912221 [T/A] NM_052889,NM_001017534 CARD16,CARD16 EXON Silent,Missense_N167I exm952507 11 104912233 [T/C] NM_052889,NM_001017534 CARD16,CARD16 EXON Silent,Missense_R163Q exm952512 11 104912339 [A/T] NM_052889,NM_001017534 CARD16,CARD16 EXON Silent,Missense_L128M exm952513 11 104912360 [A/G] NM_052889,NM_001017534 CARD16,CARD16 EXON Silent,Nonsense_Q121X exm952517 11 104912432 [A/G] NM_052889,NM_001017534 CARD16,CARD16 EXON Silent,Nonsense_Q97X exm952548 11 104916018 [T/C] NM_052889,NM_001017534 CARD16,CARD16 EXON Missense_D3N,Missense_D3N exm952554 11 104970118 [T/C] NM_001007232 CARD17 EXON Missense_Q102R exm952562 11 104971309 [A/G] NM_001007232 CARD17 EXON Missense_C69R exm952565 11 104971362 [A/G] NM_001007232 CARD17 EXON Missense_M51T exm952566 11 104971389 [A/G] NM_001007232 CARD17 EXON Missense_I42T exm1692956 11 104971395 [A/G] NM_001007232 CARD17 EXON Missense_I40T exm1692957 11 104971397 [C/G] NM_001007232 CARD17 EXON Missense_E39D exm952568 11 104971431 [T/G] NM_001007232 CARD17 EXON Missense_E28A exm952570 11 104971459 [T/C] NM_001007232 CARD17 EXON Missense_E19K exm952575 11 104971507 [G/C] NM_001007232 CARD17 Silent exm952580 11 104972135 [T/C] NM_001007232 CARD17 EXON Missense_D3N exm2276797 11 104972136 [A/G] NM_001007232 CARD17 EXON Synonymous_A2A exm952586 11 105009589 [T/C] NM_021571 CARD18 EXON Missense_H75R exm952588 11 105009653 [A/C] NM_021571 CARD18 EXON Missense_A54S exm952590 11 105009725 [A/T] NM_021571 CARD18 EXON Missense_L30I exm952591 11 105009793 [T/C] NM_021571 CARD18 EXON Missense_R7H exm2249533 11 105010448 [A/G] NM_021571 CARD18 EXON Synonymous_A2A exm2259684 11 105092244 [T/C] exm2271550 11 105393840 [T/C] exm952626 11 105732835 [T/G] NM_001077243,NM_001077244,NM_000829,NR_046356,NM_001112812 GRIA4,GRIA4,GRIA4,GRIA4,GRIA4 EXON Missense_D191E,Missense_D191E,Missense_D191E,Silent,Missense_D191E exm952627 11 105732924 [T/C] NM_001077243,NM_001077244,NM_000829,NR_046356,NM_001112812 GRIA4,GRIA4,GRIA4,GRIA4,GRIA4 EXON Missense_I221T,Missense_I221T,Missense_I221T,Silent,Missense_I221T exm952681 11 105850456 [A/C] NM_001077243,NM_000829,NR_046356 GRIA4,GRIA4,GRIA4 EXON Silent,Missense_D900A,Silent exm952686 11 105880395 [T/C] NM_032424 MSANTD4 EXON Missense_R302Q exm952688 11 105880441 [T/C] NM_032424 MSANTD4 EXON Missense_M287V exm952699 11 105880687 [T/C] NM_032424 MSANTD4 EXON Missense_V205I exm952701 11 105880760 [T/G] NM_032424 MSANTD4 EXON Missense_F180L exm952703 11 105880839 [T/C] NM_032424 MSANTD4 Silent exm952707 11 105881281 [T/C] NM_032424 MSANTD4 EXON Missense_N122D exm2271551 11 105886989 [T/C] NM_032424 MSANTD4 Silent exm1693156 11 105923633 [A/G] NM_152433,NM_198439 KBTBD3,KBTBD3 EXON Nonsense_Q595X,Nonsense_Q595X exm952720 11 105923810 [T/A] NM_152433,NM_198439 KBTBD3,KBTBD3 EXON Missense_S536T,Missense_S536T exm952724 11 105923977 [T/C] NM_152433,NM_198439 KBTBD3,KBTBD3 EXON Missense_N480S,Missense_N480S exm952726 11 105924134 [T/G] NM_152433,NM_198439 KBTBD3,KBTBD3 EXON Missense_N428H,Missense_N428H exm952736 11 105924341 [A/G] NM_152433,NM_198439 KBTBD3,KBTBD3 EXON Nonsense_R359X,Nonsense_R359X exm952740 11 105924379 [A/G] NM_152433,NM_198439 KBTBD3,KBTBD3 EXON Missense_L346S,Missense_L346S exm952741 11 105924381 [G/C] NM_152433,NM_198439 KBTBD3,KBTBD3 EXON Missense_F345L,Missense_F345L exm952743 11 105924402 [T/C] NM_152433,NM_198439 KBTBD3,KBTBD3 EXON Synonymous_S338S,Synonymous_S338S exm2249536 11 105924402 [T/C] NM_152433,NM_198439 KBTBD3,KBTBD3 EXON Synonymous_S338S,Synonymous_S338S exm952749 11 105924800 [A/C] NM_152433,NM_198439 KBTBD3,KBTBD3 EXON Nonsense_E206X,Nonsense_E206X exm952750 11 105924839 [T/C] NM_152433,NM_198439 KBTBD3,KBTBD3 EXON Missense_M193V,Missense_M193V exm952753 11 105924869 [A/C] NM_152433,NM_198439 KBTBD3,KBTBD3 EXON Missense_L183V,Missense_L183V exm952758 11 105925090 [T/A] NM_152433,NM_198439 KBTBD3,KBTBD3 EXON Missense_Y109F,Missense_Y109F exm952762 11 105929677 [T/C] NM_152433,NM_198439 KBTBD3,KBTBD3 EXON Missense_V50I,Missense_V50I exm952780 11 105948577 [A/G] NM_015423 AASDHPPT EXON Missense_R47H exm952793 11 105961346 [A/G] NM_015423 AASDHPPT EXON Missense_E158K exm2217875 11 105967614 [T/C] NM_015423 AASDHPPT EXON Nonsense_R304X exm2259686 11 106251514 [A/G] exm2267221 11 106318654 [A/G] exm-rs10895959 11 106330162 [A/G] exm952824 11 106579268 [T/C] NM_001256424,NM_000855 GUCY1A2,GUCY1A2 EXON Missense_R685Q,Missense_R654Q exm952854 11 106810316 [T/C] NM_001256424,NM_000855 GUCY1A2,GUCY1A2 EXON Missense_K359R,Missense_K359R exm2267295 11 106947600 [A/G] exm2249541 11 106972340 [T/C] exm952905 11 107197640 [T/C] NM_152434 CWF19L2 EXON Missense_Y894C exm952909 11 107197700 [T/C] NM_152434 CWF19L2 EXON Missense_K874R exm952911 11 107197714 [A/C] NM_152434 CWF19L2 EXON Missense_F869L exm952915 11 107200681 [A/G] NM_152434 CWF19L2 EXON Missense_I835T exm952920 11 107207346 [T/C] NM_152434 CWF19L2 EXON Missense_M766V exm952922 11 107207351 [T/C] NM_152434 CWF19L2 EXON Missense_Y764C exm952923 11 107207354 [T/C] NM_152434 CWF19L2 EXON Missense_Q763R exm952927 11 107219760 [T/C] NM_152434 CWF19L2 EXON Missense_N702S exm952930 11 107224282 [A/G] NM_152434 CWF19L2 EXON Missense_P685S exm952935 11 107224407 [T/C] NM_152434 CWF19L2 EXON Missense_K643R exm952937 11 107260891 [T/C] NM_152434 CWF19L2 EXON Missense_D594G exm952938 11 107263530 [T/G] NM_152434 CWF19L2 EXON Missense_Q570P exm952943 11 107286943 [T/C] NM_152434 CWF19L2 EXON Missense_G537R exm952948 11 107299623 [A/C] NM_152434 CWF19L2 EXON Missense_H445Q exm952950 11 107299631 [A/G] NM_152434 CWF19L2 EXON Missense_H443Y exm1693367 11 107299811 [T/C] NM_152434 CWF19L2 EXON Missense_G383S exm952968 11 107299922 [T/C] NM_152434 CWF19L2 EXON Missense_T346A exm952974 11 107300108 [A/G] NM_152434 CWF19L2 EXON Missense_R284W exm952984 11 107309852 [T/G] NM_152434 CWF19L2 EXON Missense_P210T exm952987 11 107312229 [G/C] NM_152434 CWF19L2 EXON Missense_Q190H exm952991 11 107312272 [A/G] NM_152434 CWF19L2 EXON Missense_T176I exm952994 11 107312315 [T/C] NM_152434 CWF19L2 EXON Missense_V162I exm953008 11 107328481 [T/C] NM_152434 CWF19L2 EXON Missense_R21Q exm953014 11 107375422 [A/C] NM_138775 ALKBH8 EXON Missense_D653Y exm953016 11 107375545 [A/C] NM_138775 ALKBH8 EXON Missense_G612C exm953019 11 107375703 [T/C] NM_138775 ALKBH8 EXON Missense_R559H exm953025 11 107375799 [T/C] NM_138775 ALKBH8 EXON Missense_K527R exm953027 11 107381618 [T/C] NM_138775 ALKBH8 EXON Missense_T478A exm953029 11 107381630 [T/G] NM_138775 ALKBH8 EXON Missense_H474N exm953042 11 107422535 [T/G] NM_138775 ALKBH8 EXON Missense_Q233H exm953045 11 107422630 [T/C] NM_138775 ALKBH8 EXON Missense_D202N exm953047 11 107423884 [T/G] NM_138775 ALKBH8 EXON Missense_E182A exm953056 11 107424635 [A/G] NM_138775 ALKBH8 EXON Missense_S146F exm953066 11 107427543 [T/C] NM_138775 ALKBH8 EXON Missense_V106M exm1693424 11 107427622 [G/C] NM_138775 ALKBH8 EXON Missense_N79K exm953078 11 107427687 [A/G] NM_138775 ALKBH8 EXON Missense_R58W exm953079 11 107427713 [T/C] NM_138775 ALKBH8 EXON Missense_N49S exm953088 11 107431618 [A/G] NM_138775 ALKBH8 EXON Missense_M1T exm-rs10431058 11 107481518 [T/C] NM_001130037,NM_018712 ELMOD1,ELMOD1 Silent,Silent exm953116 11 107501428 [A/T] NM_001130037,NM_018712 ELMOD1,ELMOD1 EXON Missense_T56S,Missense_T56S exm953132 11 107521120 [T/C] NM_001130037,NM_018712 ELMOD1,ELMOD1 EXON Missense_P205L,Missense_P205L exm953137 11 107524930 [T/G] NM_001130037,NM_018712 ELMOD1,ELMOD1 EXON Missense_R219M,Missense_R227M exm2267296 11 107529940 [A/G] NM_001130037,NM_018712 ELMOD1,ELMOD1 Silent,Silent exm953145 11 107535820 [A/G] NM_001130037,NM_018712 ELMOD1,ELMOD1 EXON Missense_R293H,Missense_R301H exm953149 11 107535894 [A/G] NM_001130037,NM_018712 ELMOD1,ELMOD1 EXON Missense_A318T,Missense_A326T exm953157 11 107578648 [T/C] NM_003063 SLN EXON Missense_I3M exm2271553 11 107641505 [T/G] exm1693462 11 107663408 [A/G] NM_017515 SLC35F2 EXON Missense_I353T exm953173 11 107673869 [A/G] NM_017515 SLC35F2 EXON Missense_V266A exm953181 11 107675467 [T/C] NM_017515 SLC35F2 EXON Missense_S254N exm953183 11 107676101 [T/C] NM_017515 SLC35F2 EXON Missense_I239V exm953184 11 107676104 [T/C] NM_017515 SLC35F2 EXON Missense_I238V exm953199 11 107686522 [A/G] NM_017515 SLC35F2 EXON Nonsense_R94X exm953201 11 107686566 [T/C] NM_017515 SLC35F2 EXON Missense_N79S exm953202 11 107686675 [T/C] NM_017515 SLC35F2 EXON Missense_I43V exm953234 11 107832967 [A/G] NM_017516 RAB39A EXON Missense_I175V exm2267222 11 107874113 [A/G] exm953289 11 107966357 [C/G] NM_003478 CUL5 EXON Missense_S615T exm953301 11 107969146 [A/G] NM_003478 CUL5 EXON Missense_V680I exm953314 11 107992346 [C/G] NM_000019 ACAT1 EXON Missense_A5P exm953336 11 108009661 [A/G] NM_000019 ACAT1 EXON Missense_N158D exm953337 11 108009662 [A/G] NM_000019 ACAT1 EXON Missense_N158S exm953347 11 108012417 [T/G] NM_000019 ACAT1 EXON Missense_Q272H exm953354 11 108013272 [T/C] NM_000019 ACAT1 EXON Missense_I312T exm953365 11 108014748 [A/G] NM_000019 ACAT1 EXON Missense_I327V exm953368 11 108016951 [A/G] NM_000019 ACAT1 EXON Missense_K343R exm953390 11 108031926 [G/C] NM_002519 NPAT EXON Missense_S1296T exm953397 11 108032139 [A/G] NM_002519 NPAT EXON Missense_T1225I exm953398 11 108032167 [T/C] NM_002519 NPAT EXON Missense_N1216D exm953403 11 108032233 [A/C] NM_002519 NPAT EXON Missense_G1194C exm953408 11 108032394 [A/G] NM_002519 NPAT EXON Missense_T1140I exm953409 11 108032446 [A/G] NM_002519 NPAT EXON Missense_P1123S exm2217893 11 108032479 [T/C] NM_002519 NPAT EXON Missense_N1112D exm953411 11 108032614 [T/C] NM_002519 NPAT EXON Missense_D1067N exm953412 11 108032676 [A/G] NM_002519 NPAT EXON Missense_P1046L exm953413 11 108032707 [T/G] NM_002519 NPAT EXON Missense_L1036I exm953416 11 108032875 [T/C] NM_002519 NPAT EXON Missense_G1015S exm953417 11 108040484 [T/G] NM_002519 NPAT EXON Missense_N999K exm953420 11 108040522 [T/C] NM_002519 NPAT EXON Missense_V987I exm953438 11 108043163 [T/C] NM_002519 NPAT EXON Missense_I850V exm953439 11 108043195 [A/G] NM_002519 NPAT EXON Missense_V839A exm953444 11 108043293 [A/C] NM_002519 NPAT EXON Missense_D806E exm953460 11 108043888 [A/G] NM_002519 NPAT EXON Missense_V608A exm953461 11 108043912 [A/C] NM_002519 NPAT EXON Missense_C600F exm953462 11 108043924 [T/C] NM_002519 NPAT EXON Missense_Q596R exm953465 11 108043988 [T/C] NM_002519 NPAT EXON Missense_V575I exm953467 11 108044091 [T/A] NM_002519 NPAT EXON Missense_L540F exm953477 11 108044372 [T/C] NM_002519 NPAT EXON Missense_V447M exm953492 11 108055975 [T/G] NM_002519 NPAT EXON Missense_E297A exm953495 11 108056000 [T/C] NM_002519 NPAT EXON Missense_T289A exm953501 11 108057226 [T/C] NM_002519 NPAT EXON Missense_A237T exm953506 11 108057279 [T/C] NM_002519 NPAT EXON Missense_S219N exm953511 11 108059901 [T/C] NM_002519 NPAT EXON Missense_Q163R exm953515 11 108060001 [T/C] NM_002519 NPAT EXON Missense_T130A exm953516 11 108060025 [G/C] NM_002519 NPAT EXON Missense_R122G exm1693690 11 108098555 [A/G] NM_000051 ATM EXON Missense_H42R exm953535 11 108098561 [A/G] NM_000051 ATM EXON Missense_D44G exm953537 11 108098576 [C/G] NM_000051 ATM EXON Missense_S49C exm953542 11 108100039 [A/G] NM_000051 ATM EXON Missense_C107Y exm953545 11 108106399 [A/G] NM_000051 ATM EXON Missense_A112T exm953546 11 108106435 [A/G] NM_000051 ATM EXON Missense_I124V exm953548 11 108106443 [T/A] NM_000051 ATM EXON Missense_D126E exm953559 11 108114727 [G/C] NM_000051 ATM EXON Missense_V182L exm953560 11 108114749 [A/G] NM_000051 ATM EXON Missense_R189K exm953561 11 108114752 [T/A] NM_000051 ATM EXON Missense_I190K exm953574 11 108115601 [A/G] NM_000051 ATM EXON Missense_R250Q exm953581 11 108117787 [T/C] NM_000051 ATM EXON Missense_S333F exm953582 11 108117798 [T/C] NM_000051 ATM EXON Missense_R337C exm953583 11 108117799 [A/G] NM_000051 ATM EXON Missense_R337H exm953591 11 108119823 [T/C] NM_000051 ATM EXON Missense_V410A exm953605 11 108121733 [A/G] NM_000051 ATM EXON Missense_G514D exm953608 11 108122592 [G/C] NM_000051 ATM EXON Missense_L546V exm953609 11 108122604 [A/G] NM_000051 ATM EXON Missense_I550V exm953614 11 108122700 [T/C] NM_000051 ATM EXON Missense_F582L exm953620 11 108123551 [T/C] NM_000051 ATM EXON Missense_P604S exm953633 11 108124738 [A/G] NM_000051 ATM EXON Missense_E699G exm953634 11 108124761 [T/C] NM_000051 ATM EXON Missense_S707P exm953645 11 108128246 [T/A] NM_000051 ATM EXON Missense_F763L exm953647 11 108128319 [A/C] NM_000051 ATM EXON Missense_S788R exm953650 11 108129778 [A/C] NM_000051 ATM EXON Missense_D814E exm953656 11 108138003 [T/C] NM_000051 ATM EXON Missense_F858L exm953657 11 108138039 [A/G] NM_000051 ATM EXON Missense_N870D exm953666 11 108139268 [T/C] NM_000051 ATM EXON Missense_R924W exm953673 11 108141983 [T/C] NM_000051 ATM EXON Missense_V976A exm953674 11 108141988 [T/C] NM_000051 ATM EXON Missense_S978P exm953676 11 108142070 [A/G] NM_000051 ATM EXON Missense_N1005S exm953679 11 108143299 [A/G] NM_000051 ATM EXON Missense_M1040V exm953684 11 108143456 [G/C] NM_000051 ATM EXON Missense_P1054R exm953694 11 108150316 [A/G] NM_000051 ATM EXON Missense_Q1128R exm953712 11 108155132 [A/G] NM_000051 ATM EXON Missense_A1309T exm953721 11 108158415 [A/G] NM_000051 ATM EXON Missense_Q1361R exm953724 11 108159732 [T/C] NM_000051 ATM EXON Missense_H1380Y exm953731 11 108160350 [T/C] NM_000051 ATM EXON Missense_L1420F exm953733 11 108160416 [T/C] NM_000051 ATM EXON Missense_Y1442H exm953737 11 108160467 [A/G] NM_000051 ATM EXON Missense_G1459R exm953740 11 108160480 [T/G] NM_000051 ATM EXON Missense_F1463C exm2217905 11 108160506 [T/G] NM_000051 ATM EXON Missense_L1472V exm953745 11 108160516 [A/G] NM_000051 ATM EXON Missense_Y1475C exm953757 11 108164137 [T/C] NM_000051 ATM EXON Missense_V1570A exm953770 11 108168053 [A/G] NM_000051 ATM EXON Missense_N1650S exm953775 11 108170506 [A/C] NM_000051 ATM EXON Missense_S1691R exm953789 11 108175462 [A/G] NM_000051 ATM EXON Missense_D1853N exm953790 11 108175463 [T/A] NM_000051 ATM EXON Missense_D1853V exm953794 11 108175535 [A/T] NM_000051 ATM EXON Missense_F1877Y exm953796 11 108178702 [C/G] NM_000051 ATM EXON Missense_R1918T exm953799 11 108180945 [C/G] NM_000051 ATM EXON Missense_V1941L exm953802 11 108181014 [A/G] NM_000051 ATM EXON Missense_K1964E exm953803 11 108183167 [A/G] NM_000051 ATM EXON Missense_N1983S exm953807 11 108186606 [T/G] NM_000051 ATM EXON Missense_C2021W exm953808 11 108186610 [A/G] NM_000051 ATM EXON Missense_G2023R exm953809 11 108186631 [A/G] NM_000051 ATM EXON Missense_I2030V exm953810 11 108186638 [A/G] NM_000051 ATM EXON Missense_R2032K exm953813 11 108186818 [T/C] NM_000051 ATM EXON Missense_T2059I exm953816 11 108188136 [A/G] NM_000051 ATM EXON Missense_V2079I exm953822 11 108190770 [C/G] NM_000051 ATM EXON Missense_S2146T exm2274528 11 108192078 [T/C] NM_000051 ATM EXON Missense_S2168L exm953828 11 108192112 [T/G] NM_000051 ATM EXON Missense_I2179M exm953829 11 108192118 [T/G] NM_000051 ATM EXON Missense_E2181D exm953837 11 108196896 [T/C] NM_000051 ATM EXON Missense_L2307F exm953838 11 108196951 [T/C] NM_000051 ATM EXON Missense_A2325V exm953840 11 108198384 [G/C] NM_000051 ATM EXON Missense_L2330V exm953841 11 108198391 [T/C] NM_000051 ATM EXON Missense_L2332P exm953843 11 108198400 [T/C] NM_000051 ATM EXON Missense_T2335I exm953849 11 108199832 [T/C] NM_000051 ATM EXON Missense_R2392W exm953855 11 108200946 [T/C] NM_000051 ATM EXON Missense_T2438I exm953860 11 108201108 [T/G] NM_000051 ATM EXON Missense_L2492R exm953863 11 108202171 [A/G] NM_000051 ATM EXON Missense_R2506G exm953897 11 108216609 [T/C] NM_000051 ATM EXON Missense_T2853M exm953898 11 108216611 [T/C] NM_000051 ATM EXON Missense_R2854C exm953912 11 108235879 [T/C] NM_000051 ATM EXON Missense_P2974L exm953921 11 108236150 [A/G] NM_000051 ATM EXON Missense_G3029D exm953930 11 108253814 [T/G] NM_152587 C11orf65 EXON Nonsense_Y292X exm953937 11 108256661 [A/G] NM_152587 C11orf65 EXON Missense_S258L exm953944 11 108264068 [A/G] NM_152587 C11orf65 EXON Missense_H200Y exm953951 11 108277509 [T/C] NM_152587 C11orf65 EXON Nonsense_W137X exm953955 11 108277584 [A/G] NM_152587 C11orf65 EXON Missense_T112I exm953961 11 108277861 [T/C] NM_152587 C11orf65 EXON Missense_A64T exm953962 11 108277873 [A/C] NM_152587 C11orf65 EXON Nonsense_E60X exm-rs11212617 11 108283161 [A/C] NM_152587 C11orf65 Silent exm1693930 11 108302498 [A/G] NM_152587 C11orf65 EXON Missense_I50T exm953964 11 108302517 [C/G] NM_152587 C11orf65 EXON Missense_Q44E exm953968 11 108332267 [A/G] NM_152587 C11orf65 EXON Missense_S7L exm953971 11 108345575 [G/C] NM_153705 KDELC2 EXON Missense_K501N exm953972 11 108345622 [A/G] NM_153705 KDELC2 EXON Missense_P486S exm953982 11 108352049 [T/C] NM_153705 KDELC2 EXON Missense_R319Q exm953987 11 108352848 [T/C] NM_153705 KDELC2 EXON Nonsense_W262X exm953991 11 108352891 [T/C] NM_153705 KDELC2 EXON Missense_R248Q exm953995 11 108356897 [T/G] NM_153705 KDELC2 EXON Nonsense_S224X exm953996 11 108356910 [T/C] NM_153705 KDELC2 EXON Missense_E220K exm954003 11 108357021 [A/G] NM_153705 KDELC2 EXON Missense_P183S exm954007 11 108357137 [A/G] NM_153705 KDELC2 EXON Missense_P144L exm954017 11 108361874 [T/C] NM_153705 KDELC2 EXON Missense_V75I exm954024 11 108380281 [T/C] NM_015065 EXPH5 EXON Missense_K1985E exm954028 11 108380335 [T/C] NM_015065 EXPH5 EXON Missense_N1967D exm2276209 11 108380449 [G/C] NM_015065 EXPH5 EXON Missense_P1929A exm954039 11 108380620 [T/C] NM_015065 EXPH5 EXON Missense_T1872A exm2217917 11 108380670 [A/C] NM_015065 EXPH5 EXON Missense_L1855R exm954043 11 108380740 [G/C] NM_015065 EXPH5 EXON Missense_R1832G exm954044 11 108380742 [T/C] NM_015065 EXPH5 EXON Missense_S1831N exm1693975 11 108380781 [T/C] NM_015065 EXPH5 EXON Missense_R1818H exm954050 11 108380812 [A/G] NM_015065 EXPH5 EXON Nonsense_R1808X exm954054 11 108380929 [G/C] NM_015065 EXPH5 EXON Missense_P1769A exm954056 11 108381021 [A/G] NM_015065 EXPH5 EXON Missense_T1738I exm954057 11 108381031 [A/T] NM_015065 EXPH5 EXON Missense_I1735F exm1693976 11 108381036 [G/C] NM_015065 EXPH5 EXON Nonsense_S1733X exm954063 11 108381118 [T/C] NM_015065 EXPH5 EXON Missense_V1706I exm954066 11 108381175 [T/C] NM_015065 EXPH5 EXON Missense_V1687I exm954067 11 108381178 [T/G] NM_015065 EXPH5 EXON Missense_H1686N exm954070 11 108381247 [T/C] NM_015065 EXPH5 EXON Missense_G1663R exm954071 11 108381250 [T/C] NM_015065 EXPH5 EXON Missense_N1662D exm954073 11 108381268 [T/C] NM_015065 EXPH5 EXON Missense_E1656K exm954077 11 108381328 [A/T] NM_015065 EXPH5 EXON Missense_T1636S exm954080 11 108381361 [T/C] NM_015065 EXPH5 EXON Missense_S1625G exm954082 11 108381373 [A/G] NM_015065 EXPH5 EXON Missense_P1621S exm954084 11 108381468 [T/G] NM_015065 EXPH5 EXON Missense_S1589Y exm954088 11 108381516 [T/A] NM_015065 EXPH5 EXON Missense_N1573I exm954097 11 108381678 [A/C] NM_015065 EXPH5 EXON Missense_L1519R exm954105 11 108381898 [T/C] NM_015065 EXPH5 EXON Missense_E1446K exm954113 11 108382174 [C/G] NM_015065 EXPH5 EXON Missense_V1354L exm954116 11 108382207 [T/C] NM_015065 EXPH5 EXON Missense_T1343A exm954119 11 108382221 [A/C] NM_015065 EXPH5 EXON Missense_G1338V exm2217919 11 108382287 [A/G] NM_015065 EXPH5 EXON Missense_M1316T exm954126 11 108382303 [A/G] NM_015065 EXPH5 EXON Missense_C1311R exm2217920 11 108382360 [T/C] NM_015065 EXPH5 EXON Missense_A1292T exm954130 11 108382375 [T/C] NM_015065 EXPH5 EXON Missense_E1287K exm954136 11 108382528 [A/C] NM_015065 EXPH5 EXON Missense_S1236A exm954147 11 108382793 [A/C] NM_015065 EXPH5 EXON Missense_M1147I exm954148 11 108382794 [A/G] NM_015065 EXPH5 EXON Missense_M1147T exm954149 11 108382834 [T/C] NM_015065 EXPH5 EXON Missense_T1134A exm954158 11 108382918 [T/C] NM_015065 EXPH5 EXON Missense_G1106R exm954160 11 108382966 [C/G] NM_015065 EXPH5 EXON Missense_L1090V exm954165 11 108383055 [T/C] NM_015065 EXPH5 EXON Missense_D1060G exm954168 11 108383129 [A/C] NM_015065 EXPH5 EXON Missense_Q1035H exm954169 11 108383130 [T/G] NM_015065 EXPH5 EXON Missense_Q1035P exm1693994 11 108383473 [T/C] NM_015065 EXPH5 EXON Missense_R921G exm954184 11 108383538 [A/G] NM_015065 EXPH5 EXON Missense_V899A exm1693995 11 108383541 [A/G] NM_015065 EXPH5 EXON Missense_P898L exm954192 11 108383616 [A/G] NM_015065 EXPH5 EXON Missense_S873L exm954195 11 108383676 [A/G] NM_015065 EXPH5 EXON Missense_L853P exm954200 11 108383848 [T/C] NM_015065 EXPH5 EXON Missense_K796E exm954201 11 108383883 [A/G] NM_015065 EXPH5 EXON Missense_P784L exm954203 11 108383905 [T/C] NM_015065 EXPH5 EXON Missense_D777N exm954207 11 108384021 [C/G] NM_015065 EXPH5 EXON Missense_S738C exm954213 11 108384190 [A/G] NM_015065 EXPH5 EXON Missense_S682P exm954215 11 108384207 [T/C] NM_015065 EXPH5 EXON Missense_S676N exm1693999 11 108384273 [T/C] NM_015065 EXPH5 EXON Missense_Q654R exm954222 11 108384393 [T/G] NM_015065 EXPH5 EXON Missense_A614D exm954223 11 108384405 [A/G] NM_015065 EXPH5 EXON Missense_I610T exm954231 11 108384592 [A/G] NM_015065 EXPH5 EXON Missense_P548S exm954232 11 108384622 [T/C] NM_015065 EXPH5 EXON Missense_G538R exm954233 11 108384640 [A/G] NM_015065 EXPH5 EXON Missense_S532P exm954234 11 108384661 [A/C] NM_015065 EXPH5 EXON Missense_V525F exm954235 11 108384666 [T/C] NM_015065 EXPH5 EXON Missense_H523R exm954238 11 108384700 [A/T] NM_015065 EXPH5 EXON Missense_M512L exm954249 11 108384877 [C/G] NM_015065 EXPH5 EXON Missense_Q453E exm954251 11 108384957 [T/C] NM_015065 EXPH5 EXON Missense_R426H exm954253 11 108384984 [A/G] NM_015065 EXPH5 EXON Missense_S417L exm954254 11 108384998 [A/C] NM_015065 EXPH5 EXON Missense_N412K exm1694004 11 108385239 [C/G] NM_015065 EXPH5 EXON Missense_P332R exm954281 11 108385508 [G/C] NM_015065 EXPH5 EXON Missense_F242L exm954282 11 108385518 [G/C] NM_015065 EXPH5 EXON Missense_R239T exm954295 11 108409784 [A/T] NM_015065 EXPH5 EXON Missense_E137V exm954296 11 108409794 [T/A] NM_015065 EXPH5 EXON Missense_S134T exm954297 11 108409802 [T/A] NM_015065 EXPH5 EXON Missense_F131Y exm954298 11 108409826 [A/G] NM_015065 EXPH5 EXON Missense_S123L exm2274529 11 108409841 [A/C] NM_015065 EXPH5 EXON Missense_R118L exm954311 11 108412499 [G/C] NM_015065 EXPH5 EXON Missense_G54R exm2259690 11 108429200 [A/C] NM_015065 EXPH5 Silent exm954313 11 108464209 [T/C] NM_015065 EXPH5 EXON Missense_R19G exm954314 11 108464221 [G/C] NM_015065 EXPH5 EXON Missense_D15H exm2271554 11 108501100 [T/C] exm954326 11 108536011 [C/G] NM_004398 DDX10 EXON Missense_P44R exm954334 11 108546337 [T/C] NM_004398 DDX10 EXON Nonsense_Q88X exm954342 11 108547834 [T/G] NM_004398 DDX10 EXON Missense_L134R exm954355 11 108550250 [C/G] NM_004398 DDX10 EXON Missense_P271A exm954359 11 108559691 [A/G] NM_004398 DDX10 EXON Missense_I293V exm954360 11 108559761 [A/G] NM_004398 DDX10 EXON Missense_S316N exm954372 11 108564254 [A/G] NM_004398 DDX10 EXON Missense_V384M exm954373 11 108577478 [T/G] NM_004398 DDX10 EXON Missense_D412E exm954380 11 108586685 [T/G] NM_004398 DDX10 EXON Missense_A468S exm2217926 11 108590530 [A/G] NM_004398 DDX10 EXON Missense_V473I exm954387 11 108593836 [A/C] NM_004398 DDX10 EXON Missense_P538T exm954392 11 108593947 [A/G] NM_004398 DDX10 EXON Missense_N575D exm954400 11 108594124 [A/G] NM_004398 DDX10 EXON Missense_D634N exm954401 11 108594142 [T/C] NM_004398 DDX10 EXON Missense_R640W exm954406 11 108709186 [T/C] NM_004398 DDX10 EXON Missense_S660F exm2217927 11 108709240 [T/C] NM_004398 DDX10 EXON Missense_M678T exm954410 11 108712103 [A/G] NM_004398 DDX10 EXON Missense_D716G exm954412 11 108712151 [A/T] NM_004398 DDX10 EXON Missense_E732V exm954414 11 108712184 [A/G] NM_004398 DDX10 EXON Missense_K743R exm954417 11 108722903 [A/C] NM_004398 DDX10 EXON Missense_E757D exm954420 11 108788619 [T/C] NM_004398 DDX10 EXON Missense_A775V exm954428 11 108811044 [A/G] NM_004398 DDX10 EXON Missense_H841R exm2267223 11 109199040 [A/G] exm2267297 11 109228405 [A/G] exm954443 11 109294532 [T/C] NM_207645 C11orf87 EXON Missense_F58S exm954455 11 109294837 [A/G] NM_207645 C11orf87 EXON Missense_G160S exm954456 11 109294864 [T/C] NM_207645 C11orf87 EXON Missense_P169S exm2267298 11 109697903 [A/G] exm2249557 11 109898785 [A/C] exm-rs746463 11 109995944 [T/C] NM_033390 ZC3H12C Silent exm954465 11 110007394 [A/G] NM_033390 ZC3H12C EXON Missense_G10R exm954475 11 110007743 [T/C] NM_033390 ZC3H12C EXON Missense_L126S exm954478 11 110007835 [A/G] NM_033390 ZC3H12C EXON Missense_D157N exm954480 11 110008024 [T/C] NM_033390 ZC3H12C EXON Missense_R220W exm954482 11 110008091 [A/G] NM_033390 ZC3H12C EXON Missense_G242D exm954486 11 110029996 [A/G] NM_033390 ZC3H12C EXON Missense_R310H exm954504 11 110035576 [A/G] NM_033390 ZC3H12C EXON Missense_Y589C exm954507 11 110035648 [T/C] NM_033390 ZC3H12C EXON Missense_L613S exm954522 11 110035936 [A/C] NM_033390 ZC3H12C EXON Missense_H709P exm954529 11 110036098 [A/G] NM_033390 ZC3H12C EXON Missense_R763Q exm954531 11 110036166 [A/G] NM_033390 ZC3H12C EXON Missense_A786T exm954537 11 110036365 [A/C] NM_033390 ZC3H12C EXON Missense_D852A exm954544 11 110036452 [A/T] NM_033390 ZC3H12C EXON Missense_L881Q exm954562 11 110104045 [T/C] NM_001260493,NM_001260492,NM_001260496,NM_001260495,NM_002906,NM_001260494 RDX,RDX,RDX,RDX,RDX,RDX EXON Missense_N502D,Missense_N502D,Silent,Missense_N155D,Missense_N502D,Missense_N366D exm954563 11 110104052 [A/T] NM_001260493,NM_001260492,NM_001260496,NM_001260495,NM_002906,NM_001260494 RDX,RDX,RDX,RDX,RDX,RDX EXON Missense_E499D,Missense_E499D,Silent,Missense_E152D,Missense_E499D,Missense_E363D exm954564 11 110104062 [A/G] NM_001260493,NM_001260492,NM_001260496,NM_001260495,NM_002906,NM_001260494 RDX,RDX,RDX,RDX,RDX,RDX EXON Missense_A496V,Missense_A496V,Silent,Missense_A149V,Missense_A496V,Missense_A360V exm954567 11 110104081 [T/C] NM_001260493,NM_001260492,NM_001260496,NM_001260495,NM_002906,NM_001260494 RDX,RDX,RDX,RDX,RDX,RDX EXON Missense_D490N,Missense_D490N,Silent,Missense_D143N,Missense_D490N,Missense_D354N exm954589 11 110124794 [T/C] NM_001260493,NM_001260492,NM_001260496,NM_001260495,NM_002906,NM_001260494 RDX,RDX,RDX,RDX,RDX,RDX EXON Missense_R279Q,Missense_R279Q,Silent,Silent,Missense_R279Q,Missense_R143Q exm954590 11 110126019 [G/C] NM_001260493,NM_001260492,NM_001260496,NM_001260495,NM_002906,NM_001260494 RDX,RDX,RDX,RDX,RDX,RDX EXON Missense_A264P,Missense_A264P,Silent,Silent,Missense_A264P,Missense_A128P exm954594 11 110128588 [T/C] NM_001260493,NM_001260492,NM_001260496,NM_001260495,NM_002906,NM_001260494 RDX,RDX,RDX,RDX,RDX,RDX EXON Missense_Y201C,Missense_Y201C,Silent,Silent,Missense_Y201C,Missense_Y65C exm954611 11 110135550 [T/C] NM_001260493,NM_001260492,NM_001260496,NM_001260495,NM_002906,NM_001260494 RDX,RDX,RDX,RDX,RDX,RDX EXON Missense_Y49C,Missense_Y49C,Silent,Silent,Missense_Y49C,Silent exm2267224 11 110330200 [A/G] NM_004109 FDX1 Silent exm2273485 11 110333241 [T/C] NM_004109 FDX1 EXON Silent exm954645 11 110450129 [T/C] NM_001258417,NM_001258415,NM_020809,NM_001258418,NM_001258416 ARHGAP20,ARHGAP20,ARHGAP20,ARHGAP20,ARHGAP20 EXON Missense_D1145N,Missense_D1158N,Missense_D1181N,Missense_D1145N,Missense_D1155N exm954657 11 110450344 [T/C] NM_001258417,NM_001258415,NM_020809,NM_001258418,NM_001258416 ARHGAP20,ARHGAP20,ARHGAP20,ARHGAP20,ARHGAP20 EXON Missense_R1073K,Missense_R1086K,Missense_R1109K,Missense_R1073K,Missense_R1083K exm954659 11 110450363 [C/G] NM_001258417,NM_001258415,NM_020809,NM_001258418,NM_001258416 ARHGAP20,ARHGAP20,ARHGAP20,ARHGAP20,ARHGAP20 EXON Missense_P1067A,Missense_P1080A,Missense_P1103A,Missense_P1067A,Missense_P1077A exm954663 11 110450457 [T/A] NM_001258417,NM_001258415,NM_020809,NM_001258418,NM_001258416 ARHGAP20,ARHGAP20,ARHGAP20,ARHGAP20,ARHGAP20 EXON Missense_L1035F,Missense_L1048F,Missense_L1071F,Missense_L1035F,Missense_L1045F exm954671 11 110450672 [T/C] NM_001258417,NM_001258415,NM_020809,NM_001258418,NM_001258416 ARHGAP20,ARHGAP20,ARHGAP20,ARHGAP20,ARHGAP20 EXON Missense_G964R,Missense_G977R,Missense_G1000R,Missense_G964R,Missense_G974R exm2249559 11 110450673 [A/G] NM_001258417,NM_001258415,NM_020809,NM_001258418,NM_001258416 ARHGAP20,ARHGAP20,ARHGAP20,ARHGAP20,ARHGAP20 EXON Synonymous_S963S,Synonymous_S976S,Synonymous_S999S,Synonymous_S963S,Synonymous_S973S exm954682 11 110451011 [A/G] NM_001258417,NM_001258415,NM_020809,NM_001258418,NM_001258416 ARHGAP20,ARHGAP20,ARHGAP20,ARHGAP20,ARHGAP20 EXON Missense_R851W,Missense_R864W,Missense_R887W,Missense_R851W,Missense_R861W exm954686 11 110451106 [A/C] NM_001258417,NM_001258415,NM_020809,NM_001258418,NM_001258416 ARHGAP20,ARHGAP20,ARHGAP20,ARHGAP20,ARHGAP20 EXON Missense_R819L,Missense_R832L,Missense_R855L,Missense_R819L,Missense_R829L exm954693 11 110451305 [A/G] NM_001258417,NM_001258415,NM_020809,NM_001258418,NM_001258416 ARHGAP20,ARHGAP20,ARHGAP20,ARHGAP20,ARHGAP20 EXON Missense_H753Y,Missense_H766Y,Missense_H789Y,Missense_H753Y,Missense_H763Y exm1694350 11 110451391 [T/C] NM_001258417,NM_001258415,NM_020809,NM_001258418,NM_001258416 ARHGAP20,ARHGAP20,ARHGAP20,ARHGAP20,ARHGAP20 EXON Missense_S724N,Missense_S737N,Missense_S760N,Missense_S724N,Missense_S734N exm954696 11 110451470 [T/C] NM_001258417,NM_001258415,NM_020809,NM_001258418,NM_001258416 ARHGAP20,ARHGAP20,ARHGAP20,ARHGAP20,ARHGAP20 EXON Missense_I698V,Missense_I711V,Missense_I734V,Missense_I698V,Missense_I708V exm954697 11 110451505 [T/C] NM_001258417,NM_001258415,NM_020809,NM_001258418,NM_001258416 ARHGAP20,ARHGAP20,ARHGAP20,ARHGAP20,ARHGAP20 EXON Missense_Y686C,Missense_Y699C,Missense_Y722C,Missense_Y686C,Missense_Y696C exm954707 11 110451713 [A/G] NM_001258417,NM_001258415,NM_020809,NM_001258418,NM_001258416 ARHGAP20,ARHGAP20,ARHGAP20,ARHGAP20,ARHGAP20 EXON Missense_R617W,Missense_R630W,Missense_R653W,Missense_R617W,Missense_R627W exm954709 11 110451721 [T/G] NM_001258417,NM_001258415,NM_020809,NM_001258418,NM_001258416 ARHGAP20,ARHGAP20,ARHGAP20,ARHGAP20,ARHGAP20 EXON Missense_Q614P,Missense_Q627P,Missense_Q650P,Missense_Q614P,Missense_Q624P exm1694352 11 110451725 [T/C] NM_001258417,NM_001258415,NM_020809,NM_001258418,NM_001258416 ARHGAP20,ARHGAP20,ARHGAP20,ARHGAP20,ARHGAP20 EXON Missense_V613I,Missense_V626I,Missense_V649I,Missense_V613I,Missense_V623I exm954720 11 110454313 [T/C] NM_001258417,NM_001258415,NM_020809,NM_001258418,NM_001258416 ARHGAP20,ARHGAP20,ARHGAP20,ARHGAP20,ARHGAP20 EXON Missense_A486T,Missense_A499T,Missense_A522T,Missense_A486T,Missense_A496T exm954733 11 110477296 [T/G] NM_001258417,NM_001258415,NM_020809,NM_001258418,NM_001258416 ARHGAP20,ARHGAP20,ARHGAP20,ARHGAP20,ARHGAP20 EXON Missense_Q282P,Missense_Q295P,Missense_Q318P,Missense_Q282P,Missense_Q292P exm1694367 11 110477362 [A/G] NM_001258417,NM_001258415,NM_020809,NM_001258418,NM_001258416 ARHGAP20,ARHGAP20,ARHGAP20,ARHGAP20,ARHGAP20 EXON Missense_M260T,Missense_M273T,Missense_M296T,Missense_M260T,Missense_M270T exm954737 11 110477389 [C/G] NM_001258417,NM_001258415,NM_020809,NM_001258418,NM_001258416 ARHGAP20,ARHGAP20,ARHGAP20,ARHGAP20,ARHGAP20 EXON Missense_P251R,Missense_P264R,Missense_P287R,Missense_P251R,Missense_P261R exm954739 11 110482061 [T/C] NM_001258417,NM_001258415,NM_020809,NM_001258418,NM_001258416 ARHGAP20,ARHGAP20,ARHGAP20,ARHGAP20,ARHGAP20 EXON Missense_N191S,Missense_N204S,Missense_N227S,Missense_N191S,Missense_N201S exm954754 11 110494938 [T/C] NM_001258417,NM_001258415,NM_020809,NM_001258418,NM_001258416 ARHGAP20,ARHGAP20,ARHGAP20,ARHGAP20,ARHGAP20 EXON Missense_M115V,Missense_M128V,Missense_M151V,Missense_M115V,Missense_M125V exm954767 11 110561274 [T/C] NM_001258417,NM_001258415,NM_020809,NM_001258418,NM_001258416 ARHGAP20,ARHGAP20,ARHGAP20,ARHGAP20,ARHGAP20 EXON Missense_T26A,Missense_T39A,Missense_T62A,Missense_T26A,Missense_T36A exm1694397 11 110561320 [A/G] NM_001258417,NM_001258415,NM_020809,NM_001258418,NM_001258416 ARHGAP20,ARHGAP20,ARHGAP20,ARHGAP20,ARHGAP20 EXON Synonymous_S10S,Synonymous_S23S,Synonymous_S46S,Synonymous_S10S,Synonymous_S20S exm954776 11 110582866 [T/C] NM_001258417,NM_020809,NM_001258418,NM_001258416 ARHGAP20,ARHGAP20,ARHGAP20,ARHGAP20 EXON Silent,Missense_G30D,Silent,Silent exm954777 11 110582885 [T/C] NM_001258417,NM_020809,NM_001258418,NM_001258416 ARHGAP20,ARHGAP20,ARHGAP20,ARHGAP20 EXON Silent,Missense_V24M,Silent,Silent exm2271555 11 110664089 [T/G] exm2271642 11 110710408 [T/C] exm2267225 11 111102839 [A/G] exm2259693 11 111115013 [T/C] exm954799 11 111156397 [T/C] NM_198498 C11orf53 EXON Missense_T110M exm954810 11 111156501 [A/G] NM_198498 C11orf53 EXON Missense_A145T exm954811 11 111156523 [T/G] NM_198498 C11orf53 EXON Missense_W152L exm954815 11 111156585 [A/C] NM_198498 C11orf53 EXON Missense_T173P exm2249562 11 111156719 [T/C] NM_198498 C11orf53 EXON Synonymous_P217P exm-rs3802842 11 111171709 [A/C] NM_001271458,NM_001271457,NM_001136105 C11orf93,C11orf93,C11orf93 Silent,Silent,Silent exm954857 11 111177302 [T/G] NM_001271458,NM_001271457,NM_001136105 C11orf93,C11orf93,C11orf93 EXON Missense_F114C,Missense_F17C,Missense_F17C exm954876 11 111225020 [A/G] NM_006235 POU2AF1 EXON Missense_A246V exm2249563 11 111225028 [A/G] NM_006235 POU2AF1 EXON Synonymous_D243D exm954880 11 111225078 [T/C] NM_006235 POU2AF1 EXON Missense_A227T exm2249564 11 111228308 [A/G] NM_006235 POU2AF1 EXON Synonymous_T106T exm954900 11 111228370 [T/C] NM_006235 POU2AF1 EXON Missense_G86S exm954904 11 111228529 [T/C] NM_006235 POU2AF1 EXON Missense_T61A exm954918 11 111249887 [A/G] NM_006235 POU2AF1 EXON Missense_P6S exm954929 11 111338404 [A/G] NM_017589 BTG4 EXON Missense_I222T exm954934 11 111365904 [T/C] NM_017589 BTG4 EXON Missense_M216V exm954935 11 111365969 [T/C] NM_017589 BTG4 EXON Missense_R194H exm954936 11 111365984 [T/C] NM_017589 BTG4 EXON Missense_N189S exm954940 11 111367952 [A/G] NM_017589 BTG4 EXON Missense_P165L exm954950 11 111368754 [T/C] NM_017589 BTG4 EXON Missense_I94V exm954953 11 111369357 [T/C] NM_017589 BTG4 EXON Missense_D49N exm954972 11 111385534 [C/G] NM_207430,NM_001100388 C11orf88,C11orf88 EXON Missense_P9A,Missense_P9A exm2217948 11 111385618 [A/G] NM_207430,NM_001100388 C11orf88,C11orf88 EXON Missense_A37T,Missense_A37T exm954976 11 111385636 [A/T] NM_207430,NM_001100388 C11orf88,C11orf88 EXON Missense_S43T,Missense_S43T exm954978 11 111385687 [A/G] NM_207430,NM_001100388 C11orf88,C11orf88 EXON Missense_S60G,Missense_S60G exm954980 11 111385712 [G/C] NM_207430,NM_001100388 C11orf88,C11orf88 EXON Missense_R68P,Missense_R68P exm954981 11 111385726 [A/G] NM_207430,NM_001100388 C11orf88,C11orf88 EXON Missense_R73G,Missense_R73G exm954983 11 111386259 [T/G] NM_207430,NM_001100388 C11orf88,C11orf88 EXON Missense_F84V,Missense_F84V exm954991 11 111386823 [T/G] NM_207430,NM_001100388 C11orf88,C11orf88 EXON Missense_K109N,Missense_K109N exm955001 11 111404530 [A/G] NM_207430,NM_001100388 C11orf88,C11orf88 EXON Synonymous_S160S,Synonymous_S133S exm955005 11 111405156 [T/C] NM_207430,NM_001100388 C11orf88,C11orf88 EXON Missense_P167L,Missense_P140L exm955006 11 111405170 [C/G] NM_207430,NM_001100388 C11orf88,C11orf88 EXON Missense_A172P,Missense_A145P exm955019 11 111414663 [A/G] NM_178834,NM_001258390,NM_001258391 LAYN,LAYN,LAYN EXON Missense_R34Q,Missense_R42Q,Silent exm955021 11 111414726 [A/T] NM_178834,NM_001258390,NM_001258391 LAYN,LAYN,LAYN EXON Missense_N55I,Missense_N63I,Silent exm955022 11 111414734 [A/G] NM_178834,NM_001258390,NM_001258391 LAYN,LAYN,LAYN EXON Missense_E58K,Missense_E66K,Silent exm955024 11 111414794 [A/G] NM_178834,NM_001258390,NM_001258391 LAYN,LAYN,LAYN EXON Missense_E78K,Missense_E86K,Silent exm955027 11 111414869 [T/C] NM_178834,NM_001258390,NM_001258391 LAYN,LAYN,LAYN EXON Missense_R103C,Missense_R111C,Synonymous_G10G exm955028 11 111414870 [A/G] NM_178834,NM_001258390,NM_001258391 LAYN,LAYN,LAYN EXON Missense_R103H,Missense_R111H,Missense_V11M exm955034 11 111420399 [A/G] NM_178834,NM_001258390,NM_001258391 LAYN,LAYN,LAYN EXON Missense_H147R,Missense_H155R,Silent exm955037 11 111420422 [A/G] NM_178834,NM_001258390,NM_001258391 LAYN,LAYN,LAYN EXON Missense_I155V,Missense_I163V,Silent exm1694491 11 111420440 [T/C] NM_178834,NM_001258390,NM_001258391 LAYN,LAYN,LAYN EXON Missense_F161L,Missense_F169L,Silent exm1694496 11 111428328 [A/G] NM_178834,NM_001258390,NM_001258391 LAYN,LAYN,LAYN EXON Missense_V241I,Missense_V249I,Missense_V96I exm955051 11 111430839 [T/C] NM_178834,NM_001258390,NM_001258391 LAYN,LAYN,LAYN EXON Missense_P261S,Missense_P269S,Missense_P116S exm955056 11 111430913 [A/T] NM_178834,NM_001258390,NM_001258391 LAYN,LAYN,LAYN EXON Missense_N285K,Missense_N293K,Missense_N140K exm955064 11 111431050 [T/C] NM_178834,NM_001258390,NM_001258391 LAYN,LAYN,LAYN EXON Missense_S331L,Missense_S339L,Missense_S186L exm955065 11 111431077 [A/G] NM_178834,NM_001258390,NM_001258391 LAYN,LAYN,LAYN EXON Missense_S340N,Missense_S348N,Missense_S195N exm955075 11 111473399 [T/C] NM_015191 SIK2 EXON Missense_R38W exm955080 11 111487066 [A/G] NM_015191 SIK2 EXON Missense_I79V exm955102 11 111582964 [C/G] NM_015191 SIK2 EXON Missense_M377I exm955105 11 111583019 [A/G] NM_015191 SIK2 EXON Missense_V396M exm955109 11 111583073 [A/G] NM_015191 SIK2 EXON Missense_E414K exm955114 11 111590605 [T/C] NM_015191 SIK2 EXON Missense_T458I exm955123 11 111591346 [A/G] NM_015191 SIK2 EXON Missense_R547H exm955148 11 111594491 [A/G] NM_015191 SIK2 EXON Missense_G807S exm955149 11 111594498 [A/G] NM_015191 SIK2 EXON Missense_R809Q exm955158 11 111594599 [C/G] NM_015191 SIK2 EXON Missense_Q843E exm955160 11 111594665 [T/G] NM_015191 SIK2 EXON Missense_C865G exm955170 11 111597693 [A/T] NM_181699,NM_181700 PPP2R1B,PPP2R1B EXON Missense_D667V,Missense_D603V exm1694559 11 111597714 [A/C] NM_181699,NM_181700 PPP2R1B,PPP2R1B EXON Missense_V660G,Missense_V596G exm955173 11 111608216 [A/T] NM_181699,NM_181700 PPP2R1B,PPP2R1B EXON Missense_N623Y,Missense_N559Y exm955174 11 111608220 [C/G] NM_181699,NM_181700 PPP2R1B,PPP2R1B EXON Missense_D621E,Missense_D557E exm955175 11 111608228 [A/G] NM_181699,NM_181700 PPP2R1B,PPP2R1B EXON Missense_R619W,Missense_R555W exm955176 11 111608258 [C/G] NM_181699,NM_181700 PPP2R1B,PPP2R1B EXON Missense_V609L,Missense_V545L exm955183 11 111612783 [T/C] NM_181699,NM_181700,NM_001177562,NM_002716,NM_001177563 PPP2R1B,PPP2R1B,PPP2R1B,PPP2R1B,PPP2R1B EXON Missense_I595V,Missense_I531V,Missense_I550V,Missense_I595V,Missense_I468V exm955194 11 111614174 [T/C] NM_181699,NM_181700,NM_001177562,NM_002716,NM_001177563 PPP2R1B,PPP2R1B,PPP2R1B,PPP2R1B,PPP2R1B EXON Missense_I494V,Missense_I430V,Missense_I449V,Missense_I494V,Missense_I367V exm955196 11 111614249 [T/C] NM_181699,NM_181700,NM_001177562,NM_002716,NM_001177563 PPP2R1B,PPP2R1B,PPP2R1B,PPP2R1B,PPP2R1B EXON Missense_A469T,Missense_A405T,Missense_A424T,Missense_A469T,Missense_A342T exm955208 11 111624270 [T/C] NM_181699,NM_181700,NM_001177562,NM_002716,NM_001177563 PPP2R1B,PPP2R1B,PPP2R1B,PPP2R1B,PPP2R1B EXON Missense_K354R,Missense_K290R,Silent,Missense_K354R,Missense_K227R exm955212 11 111625261 [G/C] NM_181699,NM_181700,NM_001177562,NM_002716,NM_001177563 PPP2R1B,PPP2R1B,PPP2R1B,PPP2R1B,PPP2R1B EXON Missense_E331Q,Missense_E267Q,Missense_E331Q,Missense_E331Q,Missense_E204Q exm1694584 11 111625287 [T/C] NM_181699,NM_181700,NM_001177562,NM_002716,NM_001177563 PPP2R1B,PPP2R1B,PPP2R1B,PPP2R1B,PPP2R1B EXON Missense_G322D,Missense_G258D,Missense_G322D,Missense_G322D,Missense_G195D exm2274530 11 111626168 [A/C] NM_181699,NM_181700,NM_001177562,NM_002716,NM_001177563 PPP2R1B,PPP2R1B,PPP2R1B,PPP2R1B,PPP2R1B EXON Missense_V232L,Missense_V168L,Missense_V232L,Missense_V232L,Missense_V105L exm1694593 11 111631612 [T/G] NM_181699,NM_181700,NM_001177562,NM_002716,NM_001177563 PPP2R1B,PPP2R1B,PPP2R1B,PPP2R1B,PPP2R1B EXON Missense_T157K,Missense_T93K,Missense_T157K,Missense_T157K,Silent exm955228 11 111631646 [A/G] NM_181699,NM_181700,NM_001177562,NM_002716,NM_001177563 PPP2R1B,PPP2R1B,PPP2R1B,PPP2R1B,PPP2R1B EXON Missense_R146C,Missense_R82C,Missense_R146C,Missense_R146C,Silent exm955230 11 111631687 [G/C] NM_181699,NM_181700,NM_001177562,NM_002716,NM_001177563 PPP2R1B,PPP2R1B,PPP2R1B,PPP2R1B,PPP2R1B EXON Missense_T132S,Missense_T68S,Missense_T132S,Missense_T132S,Silent exm955234 11 111635566 [T/C] NM_181699,NM_181700,NM_001177562,NM_002716,NM_001177563 PPP2R1B,PPP2R1B,PPP2R1B,PPP2R1B,PPP2R1B EXON Missense_G90D,Silent,Missense_G90D,Missense_G90D,Missense_G90D exm955239 11 111636107 [A/C] NM_181699,NM_181700,NM_001177562,NM_002716,NM_001177563 PPP2R1B,PPP2R1B,PPP2R1B,PPP2R1B,PPP2R1B EXON Missense_L39R,Silent,Missense_L39R,Missense_L39R,Missense_L39R exm955242 11 111636995 [T/C] NM_181699,NM_181700,NM_001177562,NM_002716,NM_001177563 PPP2R1B,PPP2R1B,PPP2R1B,PPP2R1B,PPP2R1B EXON Missense_E31K,Missense_E31K,Missense_E31K,Missense_E31K,Missense_E31K exm955244 11 111637064 [G/C] NM_181699,NM_181700,NM_001177562,NM_002716,NM_001177563 PPP2R1B,PPP2R1B,PPP2R1B,PPP2R1B,PPP2R1B EXON Missense_G8R,Missense_G8R,Missense_G8R,Missense_G8R,Missense_G8R exm955251 11 111657184 [A/G] NM_001077690,NM_024740,NM_001077692,NM_001077691 ALG9,ALG9,ALG9,ALG9 EXON Synonymous_Y591Y,Synonymous_Y598Y,Synonymous_Y420Y,Synonymous_Y427Y exm955252 11 111657186 [A/G] NM_001077690,NM_024740,NM_001077692,NM_001077691 ALG9,ALG9,ALG9,ALG9 EXON Missense_Y591H,Missense_Y598H,Missense_Y420H,Missense_Y427H exm955254 11 111657216 [A/C] NM_001077690,NM_024740,NM_001077692,NM_001077691 ALG9,ALG9,ALG9,ALG9 EXON Missense_V581F,Missense_V588F,Missense_V410F,Missense_V417F exm955256 11 111657228 [A/G] NM_001077690,NM_024740,NM_001077692,NM_001077691 ALG9,ALG9,ALG9,ALG9 EXON Missense_R577W,Missense_R584W,Missense_R406W,Missense_R413W exm2217952 11 111680441 [A/G] NM_001077690,NM_024740,NM_001077692,NM_001077691 ALG9,ALG9,ALG9,ALG9 EXON Synonymous_P546P,Synonymous_P553P,Synonymous_P375P,Synonymous_P382P exm955261 11 111680496 [A/C] NM_001077690,NM_024740,NM_001077692,NM_001077691 ALG9,ALG9,ALG9,ALG9 EXON Missense_I528S,Missense_I535S,Missense_I357S,Missense_I364S exm955265 11 111706952 [A/G] NM_001077690,NM_024740,NM_001077692,NM_001077691 ALG9,ALG9,ALG9,ALG9 EXON Missense_P506L,Missense_P513L,Missense_P335L,Missense_P342L exm955267 11 111707001 [T/C] NM_001077690,NM_024740,NM_001077692,NM_001077691 ALG9,ALG9,ALG9,ALG9 EXON Missense_I490V,Missense_I497V,Missense_I319V,Missense_I326V exm955270 11 111708280 [A/G] NM_001077690,NM_024740,NM_001077692,NM_001077691 ALG9,ALG9,ALG9,ALG9 EXON Synonymous_T454T,Synonymous_T461T,Synonymous_T283T,Synonymous_T290T exm955272 11 111708307 [T/C] NM_001077690,NM_024740,NM_001077692,NM_001077691 ALG9,ALG9,ALG9,ALG9 EXON Synonymous_E445E,Synonymous_E452E,Synonymous_E274E,Synonymous_E281E exm955279 11 111715397 [A/G] NM_001077690,NM_024740,NM_001077692,NM_001077691 ALG9,ALG9,ALG9,ALG9 EXON Synonymous_N315N,Synonymous_N315N,Synonymous_N144N,Synonymous_N144N exm955283 11 111724133 [T/C] NM_001077690,NM_024740,NM_001077692,NM_001077691 ALG9,ALG9,ALG9,ALG9 EXON Missense_V289I,Missense_V289I,Missense_V118I,Missense_V118I exm955284 11 111724183 [T/C] NM_001077690,NM_024740,NM_001077692,NM_001077691 ALG9,ALG9,ALG9,ALG9 EXON Missense_Y272C,Missense_Y272C,Missense_Y101C,Missense_Y101C exm955289 11 111724397 [A/G] NM_001077690,NM_024740,NM_001077692,NM_001077691 ALG9,ALG9,ALG9,ALG9 EXON Missense_S255L,Missense_S255L,Missense_S84L,Missense_S84L exm955291 11 111724420 [A/C] NM_001077690,NM_024740,NM_001077692,NM_001077691 ALG9,ALG9,ALG9,ALG9 EXON Missense_R247S,Missense_R247S,Missense_R76S,Missense_R76S exm955292 11 111728332 [G/C] NM_001077690,NM_024740,NM_001077692,NM_001077691 ALG9,ALG9,ALG9,ALG9 EXON Missense_A232P,Missense_A232P,Missense_A61P,Missense_A61P exm955298 11 111731298 [A/G] NM_001077690,NM_024740,NM_001077692,NM_001077691 ALG9,ALG9,ALG9,ALG9 EXON Synonymous_L179L,Synonymous_L179L,Synonymous_L8L,Synonymous_L8L exm955315 11 111745702 [T/C] NR_038364,NM_138378 FDXACB1,FDXACB1 EXON Silent,Missense_M607V exm955316 11 111745734 [T/C] NR_038364,NM_138378 FDXACB1,FDXACB1 EXON Silent,Missense_D596G exm955317 11 111745740 [A/G] NR_038364,NM_138378 FDXACB1,FDXACB1 EXON Silent,Missense_T594I exm1694631 11 111746040 [A/G] NR_038364,NM_138378 FDXACB1,FDXACB1 EXON Silent,Missense_L494S exm955331 11 111746056 [T/C] NR_038364,NM_138378 FDXACB1,FDXACB1 EXON Silent,Missense_M489V exm955334 11 111746130 [T/C] NR_038364,NM_138378 FDXACB1,FDXACB1 EXON Silent,Missense_D464G exm955335 11 111746169 [T/C] NR_038364,NM_138378 FDXACB1,FDXACB1 EXON Silent,Missense_R451H exm955340 11 111746284 [A/C] NR_038364,NM_138378 FDXACB1,FDXACB1 EXON Silent,Missense_D413Y exm955347 11 111746366 [T/G] NR_038364,NM_138378 FDXACB1,FDXACB1 EXON Silent,Missense_F385L exm2217954 11 111746671 [A/C] NR_038364,NM_138378 FDXACB1,FDXACB1 EXON Silent,Missense_F284V exm1694636 11 111746689 [A/G] NR_038364,NM_138378 FDXACB1,FDXACB1 EXON Silent,Missense_P278S exm955362 11 111746748 [A/G] NR_038364,NM_138378 FDXACB1,FDXACB1 EXON Silent,Missense_P258L exm955370 11 111747302 [A/G] NR_038364,NM_138378 FDXACB1,FDXACB1 EXON Silent,Missense_P199S exm955373 11 111747587 [T/C] NR_038364,NM_138378 FDXACB1,FDXACB1 EXON Silent,Missense_D160N exm955377 11 111747676 [T/C] NR_038364,NM_138378 FDXACB1,FDXACB1 EXON Silent,Missense_G130D exm955380 11 111747725 [T/C] NR_038364,NM_138378 FDXACB1,FDXACB1 EXON Silent,Missense_V114I exm955384 11 111749349 [T/A] NR_038364,NM_138378 FDXACB1,FDXACB1 EXON Silent,Missense_I87N exm955392 11 111749775 [T/C] NR_038364,NM_138378 FDXACB1,FDXACB1 EXON Silent,Missense_T28A exm955405 11 111753191 [A/C] NM_022761 C11orf1 EXON Missense_K49Q exm955410 11 111753246 [A/G] NM_022761 C11orf1 EXON Missense_R67H exm955413 11 111753322 [A/G] NM_022761 C11orf1 EXON Synonymous_Q92Q exm955420 11 111754517 [A/G] NM_022761 C11orf1 EXON Nonsense_W122X exm955422 11 111754551 [T/C] NM_022761 C11orf1 EXON Nonsense_R134X exm1694672 11 111779529 [A/G] NM_001885 CRYAB EXON Missense_R163C exm955436 11 111779556 [T/C] NM_001885 CRYAB EXON Missense_G154S exm955440 11 111779693 [T/C] NM_001885 CRYAB Silent exm955447 11 111782297 [A/G] NM_001885 CRYAB EXON Missense_P51L exm955452 11 111782333 [A/G] NM_001885 CRYAB EXON Missense_P39L exm955455 11 111782422 [T/C] NM_001885 CRYAB EXON Nonsense_W9X exm955458 11 111783582 [A/C] NR_037651,NM_001541 HSPB2-C11orf52,HSPB2 EXON Silent,Missense_H10P exm1694676 11 111784183 [T/C] NR_037651,NM_001541 HSPB2-C11orf52,HSPB2 EXON Silent,Missense_I38T exm955473 11 111784401 [A/G] NR_037651,NM_001541 HSPB2-C11orf52,HSPB2 EXON Silent,Missense_G111S exm955476 11 111784428 [A/G] NR_037651,NM_001541 HSPB2-C11orf52,HSPB2 EXON Silent,Missense_T120A exm955480 11 111784515 [A/G] NR_037651,NM_001541 HSPB2-C11orf52,HSPB2 EXON Silent,Missense_G149S exm955483 11 111784570 [T/C] NR_037651,NM_001541 HSPB2-C11orf52,HSPB2 EXON Silent,Missense_A167V exm955488 11 111795085 [C/G] NR_037651,NM_080659 HSPB2-C11orf52,C11orf52 EXON Silent,Missense_T23R exm955492 11 111796415 [C/G] NR_037651,NM_080659 HSPB2-C11orf52,C11orf52 EXON Silent,Missense_Q37E exm955495 11 111796717 [T/G] NR_037651,NM_080659 HSPB2-C11orf52,C11orf52 EXON Silent,Missense_V56L exm955497 11 111796829 [A/C] NR_037651,NM_080659 HSPB2-C11orf52,C11orf52 EXON Silent,Missense_K93T exm955503 11 111796904 [A/G] NR_037651,NM_080659 HSPB2-C11orf52,C11orf52 EXON Silent,Missense_K118R exm955506 11 111808273 [G/C] NR_075084,NM_001037954 DIXDC1,DIXDC1 EXON Silent,Missense_G17A exm955507 11 111808278 [A/G] NR_075084,NM_001037954 DIXDC1,DIXDC1 EXON Silent,Missense_N19D exm2271556 11 111817914 [T/C] NR_075084,NM_001037954 DIXDC1,DIXDC1 Silent,Silent exm955511 11 111835307 [T/C] NR_075084,NM_001037954 DIXDC1,DIXDC1 EXON Silent,Missense_A32V exm955518 11 111844828 [T/C] NR_075084,NM_001037954 DIXDC1,DIXDC1 EXON Silent,Missense_T133M exm955524 11 111844966 [A/G] NR_075084,NM_001037954 DIXDC1,DIXDC1 EXON Silent,Missense_R179Q exm955526 11 111845605 [A/G] NR_075084,NM_001037954 DIXDC1,DIXDC1 EXON Silent,Missense_S185N exm955542 11 111853193 [A/G] NM_001037954,NM_033425 DIXDC1,DIXDC1 EXON Missense_K300R,Missense_K89R exm955544 11 111856033 [T/C] NM_001037954,NM_033425 DIXDC1,DIXDC1 EXON Missense_P332L,Missense_P121L exm1694695 11 111857641 [A/C] NM_001037954,NM_033425 DIXDC1,DIXDC1 EXON Missense_T352P,Missense_T141P exm955553 11 111863719 [A/G] NM_001037954,NM_033425 DIXDC1,DIXDC1 EXON Missense_E421G,Missense_E210G exm955557 11 111864443 [T/C] NM_001037954,NM_033425 DIXDC1,DIXDC1 EXON Missense_V472A,Missense_V261A exm955563 11 111865833 [A/G] NM_001037954,NM_033425 DIXDC1,DIXDC1 Silent,Silent exm955567 11 111866248 [A/G] NM_001037954,NM_033425 DIXDC1,DIXDC1 EXON Missense_A550T,Missense_A339T exm955573 11 111887482 [T/C] NM_001037954,NM_033425 DIXDC1,DIXDC1 EXON Missense_T608I,Missense_T397I exm955574 11 111887493 [T/C] NM_001037954,NM_033425 DIXDC1,DIXDC1 EXON Missense_R612C,Missense_R401C exm955577 11 111888561 [G/C] NM_001037954,NM_033425 DIXDC1,DIXDC1 EXON Missense_G641A,Missense_G430A exm955579 11 111889745 [T/C] NM_001037954,NM_033425 DIXDC1,DIXDC1 EXON Missense_T679I,Missense_T468I exm955584 11 111896242 [A/G] NM_001931 DLAT EXON Missense_A16T exm955585 11 111896251 [G/C] NM_001931 DLAT EXON Missense_E19Q exm955589 11 111896324 [T/C] NM_001931 DLAT EXON Missense_A43V exm955603 11 111899239 [A/G] NM_001931 DLAT EXON Missense_V128I exm955613 11 111899592 [T/C] NM_001931 DLAT EXON Missense_P195S exm955618 11 111899635 [A/G] NM_001931 DLAT EXON Missense_Q209R exm955619 11 111899637 [A/G] NM_001931 DLAT EXON Missense_A210T exm955630 11 111908137 [A/G] NM_001931 DLAT EXON Missense_E310K exm955631 11 111908155 [T/C] NM_001931 DLAT EXON Missense_P316S exm955632 11 111908162 [T/C] NM_001931 DLAT EXON Missense_V318A exm955638 11 111914202 [A/G] NM_001931 DLAT EXON Missense_D381G exm955648 11 111916647 [A/G] NM_001931 DLAT EXON Missense_D451N exm955656 11 111930748 [A/G] NM_001931 DLAT EXON Missense_T546A exm955680 11 111941312 [T/C] NM_001082619,NM_138789 PIH1D2,PIH1D2 EXON Missense_I221V,Missense_I221V exm955682 11 111941332 [A/G] NM_001082619,NM_138789 PIH1D2,PIH1D2 EXON Missense_A214V,Missense_A214V exm955690 11 111941905 [T/C] NM_001082619,NM_138789 PIH1D2,PIH1D2 EXON Missense_C135Y,Missense_C135Y exm955691 11 111941959 [A/G] NM_001082619,NM_138789 PIH1D2,PIH1D2 EXON Missense_A117V,Missense_A117V exm955692 11 111942004 [T/G] NM_001082619,NM_138789 PIH1D2,PIH1D2 EXON Missense_A102D,Missense_A102D exm955693 11 111942362 [A/G] NM_001082619,NM_138789 PIH1D2,PIH1D2 EXON Missense_S100P,Missense_S100P exm955699 11 111942458 [T/G] NM_001082619,NM_138789 PIH1D2,PIH1D2 EXON Missense_I68L,Missense_I68L exm955708 11 111946306 [A/G] NM_018195,NM_001082970,NM_001082969 C11orf57,C11orf57,C11orf57 EXON Missense_R3Q,Missense_R3Q,Missense_R3Q exm955721 11 111952743 [G/C] NM_018195,NM_001082970,NM_001082969 C11orf57,C11orf57,C11orf57 EXON Missense_E120Q,Missense_E120Q,Missense_E120Q exm955727 11 111953419 [A/C] NM_018195,NM_001082970,NM_001082969 C11orf57,C11orf57,C11orf57 EXON Missense_Q202P,Missense_Q201P,Missense_Q202P exm955736 11 111953611 [A/G] NM_018195,NM_001082970,NM_001082969 C11orf57,C11orf57,C11orf57 EXON Missense_N266S,Missense_N265S,Missense_N266S exm955757 11 111957665 [A/G] NM_003002 SDHD EXON Missense_G12S exm955759 11 111958581 [T/C] NM_003002 SDHD EXON Missense_A18V exm955760 11 111958584 [T/C] NM_003002 SDHD EXON Missense_L19P exm955763 11 111958677 [A/G] NM_003002 SDHD EXON Missense_H50R exm955764 11 111958686 [T/C] NM_003002 SDHD EXON Missense_P53L exm955770 11 111959699 [A/G] NM_003002 SDHD EXON Missense_Y93C exm2271644 11 111989592 [T/C] exm-rs1834481 11 112023827 [G/C] NM_001243211,NM_001562 IL18,IL18 Silent,Silent exm955785 11 112025712 [A/G] NM_001243211,NM_001562 IL18,IL18 EXON Missense_T22M,Missense_T22M exm955788 11 112040041 [G/C] NM_031275 TEX12 EXON Missense_P17R exm955797 11 112041221 [A/G] NM_031275 TEX12 EXON Missense_Y48C exm955810 11 112050025 [C/G] NM_031938,NM_001256398,NM_001037290,NM_001256397,NM_001256400 BCO2,BCO2,BCO2,BCO2,BCO2 EXON Missense_T38S,Missense_T38S,Missense_T4S,Missense_T4S,Silent exm955815 11 112050123 [T/C] NM_031938,NM_001256398,NM_001037290,NM_001256397,NM_001256400 BCO2,BCO2,BCO2,BCO2,BCO2 EXON Nonsense_R71X,Nonsense_R71X,Nonsense_R37X,Nonsense_R37X,Silent exm955816 11 112050172 [T/C] NM_031938,NM_001256398,NM_001037290,NM_001256397,NM_001256400 BCO2,BCO2,BCO2,BCO2,BCO2 EXON Missense_I87T,Missense_I87T,Missense_I53T,Missense_I53T,Silent exm1694819 11 112050189 [A/G] NM_031938,NM_001256398,NM_001037290,NM_001256397,NM_001256400 BCO2,BCO2,BCO2,BCO2,BCO2 EXON Missense_E93K,Missense_E93K,Missense_E59K,Missense_E59K,Silent exm-rs2115763 11 112051169 [T/A] NM_031938,NM_001256398,NM_001037290,NM_001256397,NM_001256400 BCO2,BCO2,BCO2,BCO2,BCO2 Silent,Silent,Silent,Silent,Silent exm955818 11 112064216 [A/G] NM_031938,NM_001256398,NM_001037290,NM_001256397,NM_001256400 BCO2,BCO2,BCO2,BCO2,BCO2 EXON Missense_G105R,Missense_G105R,Missense_G71R,Missense_G71R,Silent exm1694822 11 112064292 [T/C] NM_031938,NM_001256398,NM_001037290,NM_001256397,NM_001256400 BCO2,BCO2,BCO2,BCO2,BCO2 EXON Missense_T130I,Missense_T130I,Missense_T96I,Missense_T96I,Missense_T25I exm955824 11 112064369 [A/C] NM_031938,NM_001256398,NM_001037290,NM_001256397,NM_001256400 BCO2,BCO2,BCO2,BCO2,BCO2 EXON Missense_N156H,Missense_N156H,Missense_N122H,Missense_N122H,Missense_N51H exm955842 11 112065434 [T/C] NM_031938,NM_001256398,NM_001037290,NM_001256397,NM_001256400 BCO2,BCO2,BCO2,BCO2,BCO2 EXON Missense_L231P,Silent,Missense_L197P,Missense_L197P,Missense_L126P exm955846 11 112070431 [A/G] NM_031938,NM_001256398,NM_001037290,NM_001256397,NM_001256400 BCO2,BCO2,BCO2,BCO2,BCO2 EXON Missense_Y249C,Missense_Y176C,Missense_Y215C,Missense_Y215C,Missense_Y144C exm955850 11 112071336 [A/G] NM_031938,NM_001256398,NM_001037290,NM_001256397,NM_001256400 BCO2,BCO2,BCO2,BCO2,BCO2 EXON Missense_G289E,Missense_G216E,Missense_G255E,Missense_G255E,Missense_G184E exm955852 11 112071342 [T/C] NM_031938,NM_001256398,NM_001037290,NM_001256397,NM_001256400 BCO2,BCO2,BCO2,BCO2,BCO2 EXON Missense_T291I,Missense_T218I,Missense_T257I,Missense_T257I,Missense_T186I exm955858 11 112071441 [A/G] NM_031938,NM_001256398,NM_001037290,NM_001256397,NM_001256400 BCO2,BCO2,BCO2,BCO2,BCO2 EXON Missense_S324N,Missense_S251N,Missense_S290N,Missense_S290N,Missense_S219N exm955863 11 112071464 [T/C] NM_031938,NM_001256398,NM_001037290,NM_001256397,NM_001256400 BCO2,BCO2,BCO2,BCO2,BCO2 EXON Missense_R332W,Missense_R259W,Missense_R298W,Missense_R298W,Missense_R227W exm955869 11 112072789 [A/G] NM_031938,NM_001256398,NM_001037290,NM_001256397,NM_001256400 BCO2,BCO2,BCO2,BCO2,BCO2 EXON Missense_H357R,Missense_H284R,Missense_H323R,Missense_H323R,Missense_H252R exm955873 11 112072871 [C/G] NM_031938,NM_001256398,NM_001037290,NM_001256397,NM_001256400 BCO2,BCO2,BCO2,BCO2,BCO2 EXON Nonsense_Y384X,Nonsense_Y311X,Nonsense_Y350X,Nonsense_Y350X,Nonsense_Y279X exm955877 11 112084451 [A/G] NM_031938,NM_001256398,NM_001037290,NM_001256397,NM_001256400 BCO2,BCO2,BCO2,BCO2,BCO2 EXON Missense_H400R,Missense_H327R,Missense_H366R,Missense_H366R,Missense_H295R exm955880 11 112084583 [T/C] NM_031938,NM_001256398,NM_001037290,NM_001256397,NM_001256400 BCO2,BCO2,BCO2,BCO2,BCO2 EXON Missense_T444M,Missense_T371M,Missense_T410M,Missense_T410M,Missense_T339M exm-rs2250417 11 112085316 [T/C] NM_031938,NM_001256398,NM_001037290,NM_001256397,NM_001256400 BCO2,BCO2,BCO2,BCO2,BCO2 Silent,Silent,Silent,Silent,Silent exm955891 11 112085566 [T/C] NM_031938,NM_001256398,NM_001037290,NM_001256397,NM_001256400 BCO2,BCO2,BCO2,BCO2,BCO2 EXON Nonsense_R472X,Nonsense_R399X,Nonsense_R438X,Nonsense_R438X,Nonsense_R367X exm955892 11 112085567 [A/G] NM_031938,NM_001256398,NM_001037290,NM_001256397,NM_001256400 BCO2,BCO2,BCO2,BCO2,BCO2 EXON Missense_R472Q,Missense_R399Q,Missense_R438Q,Missense_R438Q,Missense_R367Q exm955901 11 112086943 [A/G] NM_031938,NM_001256398,NM_001037290,NM_001256397,NM_001256400 BCO2,BCO2,BCO2,BCO2,BCO2 EXON Missense_V506I,Missense_V433I,Missense_V472I,Missense_V466I,Missense_V401I exm955904 11 112088499 [A/C] NM_031938,NM_001256398,NM_001037290,NM_001256397,NM_001256400 BCO2,BCO2,BCO2,BCO2,BCO2 EXON Missense_I548L,Missense_I475L,Missense_I514L,Missense_I508L,Missense_I443L exm955928 11 112104157 [T/C] NM_000317 PTS EXON Missense_T106M exm955938 11 112119652 [A/G] NM_001145024 C11orf34 EXON Missense_F165S exm955940 11 112123095 [A/G] NM_001145024 C11orf34 EXON Missense_S142P exm-rs7105881 11 112456221 [T/C] exm2249569 11 112559814 [A/C] exm955981 11 112832353 [T/C] NM_001076682,NM_001242607,NM_001242608,NM_181351,NM_000615 NCAM1,NCAM1,NCAM1,NCAM1,NCAM1 EXON Missense_F7L,Missense_F7L,Missense_F7L,Missense_F7L,Missense_F7L exm-rs1436109 11 112991618 [T/G] NM_001076682,NM_001242607,NM_001242608,NM_181351,NM_000615 NCAM1,NCAM1,NCAM1,NCAM1,NCAM1 Silent,Silent,Silent,Silent,Silent exm2271645 11 113049287 [T/C] NM_001076682,NM_001242607,NM_001242608,NM_181351,NM_000615 NCAM1,NCAM1,NCAM1,NCAM1,NCAM1 Silent,Silent,Silent,Silent,Silent exm955994 11 113076304 [A/G] NM_001076682,NM_001242607,NM_001242608,NM_181351,NM_000615 NCAM1,NCAM1,NCAM1,NCAM1,NCAM1 EXON Missense_V136M,Missense_V136M,Missense_V136M,Missense_V136M,Missense_V136M exm955998 11 113078035 [T/C] NM_001076682,NM_001242607,NM_001242608,NM_181351,NM_000615 NCAM1,NCAM1,NCAM1,NCAM1,NCAM1 EXON Synonymous_L227L,Synonymous_L227L,Synonymous_L227L,Synonymous_L227L,Synonymous_L227L exm956003 11 113078586 [A/G] NM_001076682,NM_001242607,NM_001242608,NM_181351,NM_000615 NCAM1,NCAM1,NCAM1,NCAM1,NCAM1 EXON Missense_D260N,Missense_D260N,Missense_D260N,Missense_D260N,Missense_D260N exm956006 11 113078660 [A/G] NM_001076682,NM_001242607,NM_001242608,NM_181351,NM_000615 NCAM1,NCAM1,NCAM1,NCAM1,NCAM1 EXON Synonymous_E284E,Synonymous_E284E,Synonymous_E284E,Synonymous_E284E,Synonymous_E284E exm956014 11 113085222 [A/G] NM_001076682,NM_001242607,NM_001242608,NM_181351,NM_000615 NCAM1,NCAM1,NCAM1,NCAM1,NCAM1 EXON Missense_S350G,Missense_S350G,Missense_S350G,Missense_S350G,Missense_S350G exm956015 11 113085224 [T/C] NM_001076682,NM_001242607,NM_001242608,NM_181351,NM_000615 NCAM1,NCAM1,NCAM1,NCAM1,NCAM1 EXON Synonymous_S350S,Synonymous_S350S,Synonymous_S350S,Synonymous_S350S,Synonymous_S350S exm956029 11 113103069 [A/C] NM_001076682,NM_001242607,NM_001242608,NM_181351,NM_000615 NCAM1,NCAM1,NCAM1,NCAM1,NCAM1 EXON Missense_Y463S,Missense_Y499S,Missense_Y463S,Missense_Y473S,Missense_Y463S exm2249570 11 113103996 [T/G] NM_001076682,NM_001242607,NM_001242608,NM_181351,NM_000615 NCAM1,NCAM1,NCAM1,NCAM1,NCAM1 EXON Synonymous_V540V,Synonymous_V576V,Synonymous_V540V,Synonymous_V550V,Synonymous_V540V exm956036 11 113105780 [T/C] NM_001076682,NM_001242607,NM_001242608,NM_181351,NM_000615 NCAM1,NCAM1,NCAM1,NCAM1,NCAM1 EXON Synonymous_I563I,Synonymous_I599I,Synonymous_I563I,Synonymous_I573I,Synonymous_I563I exm956037 11 113105781 [A/G] NM_001076682,NM_001242607,NM_001242608,NM_181351,NM_000615 NCAM1,NCAM1,NCAM1,NCAM1,NCAM1 EXON Missense_V564M,Missense_V600M,Missense_V564M,Missense_V574M,Missense_V564M exm956038 11 113105789 [A/G] NM_001076682,NM_001242607,NM_001242608,NM_181351,NM_000615 NCAM1,NCAM1,NCAM1,NCAM1,NCAM1 EXON Synonymous_L566L,Synonymous_L602L,Synonymous_L566L,Synonymous_L576L,Synonymous_L566L exm956042 11 113105810 [T/C] NM_001076682,NM_001242607,NM_001242608,NM_181351,NM_000615 NCAM1,NCAM1,NCAM1,NCAM1,NCAM1 EXON Synonymous_A573A,Synonymous_A609A,Synonymous_A573A,Synonymous_A583A,Synonymous_A573A exm956045 11 113105825 [A/G] NM_001076682,NM_001242607,NM_001242608,NM_181351,NM_000615 NCAM1,NCAM1,NCAM1,NCAM1,NCAM1 EXON Synonymous_A578A,Synonymous_A614A,Synonymous_A578A,Synonymous_A588A,Synonymous_A578A exm956046 11 113105855 [T/C] NM_001076682,NM_001242607,NM_001242608,NM_181351,NM_000615 NCAM1,NCAM1,NCAM1,NCAM1,NCAM1 EXON Synonymous_S588S,Synonymous_S624S,Synonymous_S588S,Synonymous_S598S,Synonymous_S588S exm956047 11 113105857 [T/C] NM_001076682,NM_001242607,NM_001242608,NM_181351,NM_000615 NCAM1,NCAM1,NCAM1,NCAM1,NCAM1 EXON Missense_A589V,Missense_A625V,Missense_A589V,Missense_A599V,Missense_A589V exm-rs12279261 11 113106455 [A/G] NM_001076682,NM_001242607,NM_001242608,NM_181351,NM_000615 NCAM1,NCAM1,NCAM1,NCAM1,NCAM1 Silent,Silent,Silent,Silent,Silent exm956055 11 113111509 [A/G] NM_001076682,NM_001242607,NM_001242608,NM_181351,NM_000615 NCAM1,NCAM1,NCAM1,NCAM1,NCAM1 EXON Synonymous_P604P,Silent,Silent,Silent,Silent exm1694916 11 113111524 [A/G] NM_001076682,NM_001242607,NM_001242608,NM_181351,NM_000615 NCAM1,NCAM1,NCAM1,NCAM1,NCAM1 EXON Synonymous_S609S,Silent,Silent,Silent,Silent exm956064 11 113126722 [T/C] NM_001076682,NM_001242607,NM_001242608,NM_181351,NM_000615 NCAM1,NCAM1,NCAM1,NCAM1,NCAM1 EXON Missense_A676V,Missense_A677V,Missense_A641V,Missense_A651V,Missense_A641V exm956069 11 113130951 [T/G] NM_001076682,NM_001242607,NM_001242608,NM_181351,NM_000615 NCAM1,NCAM1,NCAM1,NCAM1,NCAM1 EXON Missense_E704D,Missense_E705D,Missense_E669D,Missense_E679D,Missense_E669D exm956084 11 113140998 [T/C] NM_001242607,NM_181351,NM_000615,NR_034101 NCAM1,NCAM1,NCAM1,LOC100288346 EXON Synonymous_D766D,Synonymous_D740D,Synonymous_D730D,Silent exm956087 11 113141073 [T/C] NM_001242607,NM_181351,NM_000615,NR_034101 NCAM1,NCAM1,NCAM1,LOC100288346 EXON Synonymous_P791P,Synonymous_P765P,Synonymous_P755P,Silent exm956088 11 113141076 [A/G] NM_001242607,NM_181351,NM_000615,NR_034101 NCAM1,NCAM1,NCAM1,LOC100288346 EXON Synonymous_G792G,Synonymous_G766G,Synonymous_G756G,Silent exm956094 11 113142503 [T/C] NM_001242607,NM_181351,NM_000615,NR_034101 NCAM1,NCAM1,NCAM1,LOC100288346 EXON Synonymous_P813P,Synonymous_P787P,Synonymous_P777P,Silent exm956099 11 113142581 [A/G] NM_001242607,NM_181351,NM_000615,NR_034101 NCAM1,NCAM1,NCAM1,LOC100288346 EXON Synonymous_T839T,Synonymous_T813T,Synonymous_T803T,Silent exm956106 11 113146033 [T/C] NM_001242607,NM_181351,NM_000615 NCAM1,NCAM1,NCAM1 EXON Missense_T860M,Missense_T834M,Missense_T824M exm2217967 11 113186986 [T/G] NM_017868 TTC12 EXON Missense_A3S exm956119 11 113194067 [T/C] NM_017868 TTC12 EXON Missense_L39P exm1694939 11 113194069 [G/C] NM_017868 TTC12 EXON Missense_E40Q exm956122 11 113194093 [A/G] NM_017868 TTC12 EXON Missense_M48V exm956125 11 113194136 [A/G] NM_017868 TTC12 EXON Missense_N62S exm956126 11 113194168 [A/C] NM_017868 TTC12 EXON Missense_M73L exm956136 11 113195325 [A/G] NM_017868 TTC12 Silent exm956140 11 113196252 [A/G] NM_017868 TTC12 EXON Missense_K110R exm956142 11 113196293 [A/T] NM_017868 TTC12 EXON Missense_T124S exm956164 11 113211455 [C/G] NM_017868 TTC12 EXON Missense_R299T exm956167 11 113212572 [A/G] NM_017868 TTC12 EXON Missense_A304T exm956172 11 113215047 [A/G] NM_017868 TTC12 EXON Missense_A347T exm956185 11 113222016 [A/G] NM_017868 TTC12 EXON Missense_V435I exm956191 11 113222885 [T/A] NM_017868 TTC12 EXON Missense_M468L exm956192 11 113222931 [T/C] NM_017868 TTC12 Silent exm956200 11 113230704 [A/C] NM_017868 TTC12 EXON Missense_N530H exm956202 11 113233141 [A/C] NM_017868 TTC12 EXON Missense_S545R exm956205 11 113233186 [T/C] NM_017868 TTC12 EXON Nonsense_R560X exm956206 11 113233189 [A/G] NM_017868 TTC12 EXON Missense_A561T exm956207 11 113233196 [T/C] NM_017868 TTC12 EXON Missense_V563A exm956211 11 113234625 [A/G] NM_017868 TTC12 EXON Missense_E598K exm956212 11 113234634 [A/G] NM_017868 TTC12 EXON Missense_I601V exm2249571 11 113234679 [T/C] NM_017868 TTC12 Silent exm956215 11 113235565 [A/G] NM_017868 TTC12 EXON Missense_V609I exm956216 11 113235577 [G/C] NM_017868 TTC12 EXON Missense_L613V exm956220 11 113235651 [C/G] NM_017868 TTC12 EXON Missense_N637K exm2249572 11 113235657 [A/G] NM_017868 TTC12 EXON Synonymous_A639A exm956225 11 113235674 [T/C] NM_017868 TTC12 EXON Missense_T645M exm956240 11 113236975 [A/G] NM_017868 TTC12 EXON Missense_G691S exm956252 11 113258719 [A/T] NM_178510 ANKK1 EXON Missense_Q38L exm956254 11 113258762 [C/G] NM_178510 ANKK1 EXON Missense_C52W exm956257 11 113258787 [A/G] NM_178510 ANKK1 EXON Missense_A61T exm956259 11 113264244 [A/G] NM_178510 ANKK1 EXON Missense_K76R exm956265 11 113264279 [A/G] NM_178510 ANKK1 EXON Missense_G88R exm956272 11 113264382 [A/G] NM_178510 ANKK1 EXON Missense_R122H exm956274 11 113264421 [A/C] NM_178510 ANKK1 EXON Missense_H135P exm956280 11 113265667 [T/G] NM_178510 ANKK1 EXON Missense_L166R exm956285 11 113265724 [A/G] NM_178510 ANKK1 EXON Missense_R185Q exm956288 11 113266080 [T/G] NM_178510 ANKK1 Silent exm956297 11 113266815 [T/C] NM_178510 ANKK1 EXON Nonsense_R237X exm956298 11 113266816 [A/G] NM_178510 ANKK1 EXON Missense_R237Q exm956299 11 113266821 [A/G] NM_178510 ANKK1 EXON Missense_A239T exm956300 11 113266822 [T/C] NM_178510 ANKK1 EXON Missense_A239V exm956303 11 113266863 [T/C] NM_178510 ANKK1 EXON Missense_W253R exm1694992 11 113266930 [A/G] NM_178510 ANKK1 EXON Missense_R275K exm956306 11 113266933 [T/C] NM_178510 ANKK1 EXON Missense_P276L exm956308 11 113267947 [A/C] NM_178510 ANKK1 EXON Missense_D280E exm956309 11 113267957 [A/G] NM_178510 ANKK1 EXON Missense_E284K exm956310 11 113267991 [T/G] NM_178510 ANKK1 EXON Missense_R295L exm956311 11 113268050 [T/C] NM_178510 ANKK1 EXON Missense_R315C exm956314 11 113268059 [A/G] NM_178510 ANKK1 EXON Missense_G318R exm956319 11 113269719 [T/C] NM_178510 ANKK1 EXON Missense_L343P exm956321 11 113269724 [A/G] NM_178510 ANKK1 EXON Missense_D345N exm956322 11 113269727 [T/C] NM_178510 ANKK1 EXON Missense_R346C exm956324 11 113269742 [T/C] NM_178510 ANKK1 EXON Missense_P351S exm956325 11 113269792 [A/C] NM_178510 ANKK1 EXON Missense_H367Q exm956331 11 113269907 [G/C] NM_178510 ANKK1 EXON Missense_Q406E exm956335 11 113270015 [C/G] NM_178510 ANKK1 EXON Missense_G442R exm956336 11 113270024 [T/C] NM_178510 ANKK1 EXON Missense_R445C exm956339 11 113270064 [A/G] NM_178510 ANKK1 EXON Missense_E458G exm956341 11 113270160 [A/G] NM_178510 ANKK1 EXON Missense_H490R exm956343 11 113270260 [C/G] NM_178510 ANKK1 EXON Missense_Q523H exm956347 11 113270369 [A/G] NM_178510 ANKK1 EXON Missense_G560S exm956353 11 113270450 [T/G] NM_178510 ANKK1 EXON Nonsense_E587X exm956354 11 113270475 [T/C] NM_178510 ANKK1 EXON Missense_T595I exm956355 11 113270478 [T/C] NM_178510 ANKK1 EXON Missense_P596L exm956356 11 113270555 [T/C] NM_178510 ANKK1 EXON Missense_L622F exm956357 11 113270595 [A/G] NM_178510 ANKK1 EXON Missense_R635H exm956359 11 113270649 [A/G] NM_178510 ANKK1 EXON Missense_N653S exm956360 11 113270660 [T/C] NM_178510 ANKK1 EXON Nonsense_Q657X exm956361 11 113270699 [A/G] NM_178510 ANKK1 EXON Missense_S670G exm956363 11 113270723 [G/C] NM_178510 ANKK1 EXON Missense_L678V exm956373 11 113270828 [A/G] NM_178510 ANKK1 EXON Missense_E713K exm956380 11 113270897 [T/C] NM_178510 ANKK1 EXON Nonsense_R736X exm956393 11 113283337 [T/C] NM_016574,NM_000795 DRD2,DRD2 EXON Missense_R331H,Missense_R360H exm956399 11 113283437 [T/C] NM_016574,NM_000795 DRD2,DRD2 EXON Missense_K298E,Missense_K327E exm956405 11 113283484 [G/C] NM_016574,NM_000795 DRD2,DRD2 EXON Missense_S282C,Missense_S311C exm-rs12363125 11 113285916 [T/C] NM_016574,NM_000795 DRD2,DRD2 Silent,Silent exm956428 11 113287657 [T/C] NM_016574,NM_000795 DRD2,DRD2 EXON Missense_V154I,Missense_V154I exm-rs1079596 11 113296619 [T/C] NM_016574,NM_000795 DRD2,DRD2 Silent,Silent exm-rs11214606 11 113309869 [T/C] NM_016574,NM_000795 DRD2,DRD2 Silent,Silent exm2249573 11 113477081 [T/C] exm956465 11 113560969 [T/C] NM_030770 TMPRSS5 EXON Missense_R397K exm956467 11 113560988 [A/C] NM_030770 TMPRSS5 EXON Missense_A391S exm956474 11 113561054 [A/G] NM_030770 TMPRSS5 EXON Missense_F369L exm956476 11 113561068 [A/G] NM_030770 TMPRSS5 EXON Missense_T364M exm956478 11 113561571 [A/G] NM_030770 TMPRSS5 EXON Missense_P352L exm956484 11 113561616 [A/G] NM_030770 TMPRSS5 EXON Missense_P337L exm956497 11 113563960 [G/C] NM_030770 TMPRSS5 EXON Missense_A266G exm956500 11 113565234 [A/G] NM_030770 TMPRSS5 EXON Missense_R251C exm1695050 11 113565260 [A/G] NM_030770 TMPRSS5 EXON Missense_T242M exm956510 11 113565353 [A/G] NM_030770 TMPRSS5 EXON Missense_A211V exm956511 11 113565354 [T/C] NM_030770 TMPRSS5 EXON Missense_A211T exm956515 11 113566152 [T/A] NM_030770 TMPRSS5 EXON Missense_S198T exm956522 11 113568096 [T/C] NM_030770 TMPRSS5 EXON Missense_V125M exm956539 11 113570385 [T/C] NM_030770 TMPRSS5 EXON Missense_R46Q exm956560 11 113607367 [G/C] NM_004724 ZW10 EXON Missense_A732P exm956562 11 113607414 [T/C] NM_004724 ZW10 EXON Missense_Y716C exm956567 11 113608316 [A/G] NM_004724 ZW10 EXON Missense_I665T exm956571 11 113608385 [A/T] NM_004724 ZW10 EXON Missense_D642V exm956579 11 113609078 [A/C] NM_004724 ZW10 EXON Missense_G598C exm956582 11 113609970 [A/G] NM_004724 ZW10 EXON Missense_T573I exm956583 11 113610003 [T/C] NM_004724 ZW10 EXON Missense_R562H exm956593 11 113610093 [T/C] NM_004724 ZW10 EXON Missense_Q532R exm956601 11 113614693 [T/G] NM_004724 ZW10 EXON Missense_Q448K exm956602 11 113614711 [A/C] NM_004724 ZW10 EXON Missense_D442Y exm956603 11 113614739 [A/C] NM_004724 ZW10 EXON Missense_N432K exm956607 11 113618348 [A/G] NM_004724 ZW10 EXON Missense_R393C exm956617 11 113619098 [T/C] NM_004724 ZW10 EXON Missense_V324I exm956620 11 113628467 [T/A] NM_004724 ZW10 EXON Missense_M281K exm956622 11 113628482 [T/C] NM_004724 ZW10 EXON Missense_R276H exm956628 11 113629312 [A/C] NM_004724 ZW10 EXON Missense_V233F exm956634 11 113629371 [A/G] NM_004724 ZW10 EXON Missense_S213L exm956636 11 113629404 [A/G] NM_004724 ZW10 EXON Missense_L202P exm956642 11 113631039 [T/C] NM_004724 ZW10 EXON Missense_I158V exm956646 11 113631245 [T/C] NM_004724 ZW10 EXON Missense_R137H exm956649 11 113631637 [A/G] NM_004724 ZW10 EXON Missense_R82C exm956651 11 113639557 [T/C] NM_004724 ZW10 EXON Missense_E80K exm956652 11 113639564 [T/C] NM_004724 ZW10 EXON Missense_I77M exm2249574 11 113644311 [A/G] NM_004724 ZW10 EXON Synonymous_R26R exm956679 11 113650902 [A/G] NM_001101389 CLDN25 EXON Missense_A129T exm956681 11 113650996 [A/G] NM_001101389 CLDN25 EXON Nonsense_W160X exm956683 11 113651116 [T/C] NM_001101389 CLDN25 EXON Missense_A200V exm956684 11 113651139 [T/C] NM_001101389 CLDN25 EXON Missense_C208R exm956687 11 113651188 [T/C] NM_001101389 CLDN25 EXON Missense_P224L exm956688 11 113669979 [T/C] NM_020886 USP28 EXON Missense_T1073A exm956693 11 113670072 [T/C] NM_020886 USP28 EXON Missense_V1042I exm956700 11 113672358 [A/C] NM_020886 USP28 EXON Missense_D969Y exm2217984 11 113673933 [A/G] NM_020886 USP28 EXON Missense_R937C exm956717 11 113675638 [T/C] NM_020886 USP28 EXON Missense_R844Q exm956718 11 113675654 [T/C] NM_020886 USP28 EXON Missense_K839E exm956720 11 113675740 [A/T] NM_020886 USP28 EXON Missense_Y810F exm956726 11 113677258 [T/C] NM_020886 USP28 EXON Missense_A785T exm956734 11 113679060 [T/C] NM_020886 USP28 EXON Missense_R755H exm956735 11 113679076 [T/C] NM_020886 USP28 EXON Missense_I750V exm956737 11 113679129 [T/C] NM_020886 USP28 EXON Missense_R732H exm956741 11 113679159 [T/C] NM_020886 USP28 EXON Missense_E722G exm956752 11 113683078 [A/C] NM_020886 USP28 EXON Missense_R631I exm956756 11 113684612 [A/G] NM_020886 USP28 EXON Missense_R580C exm956758 11 113684631 [T/C] NM_020886 USP28 EXON Missense_M573I exm956766 11 113688407 [A/G] NM_020886 USP28 EXON Missense_S479L exm956788 11 113700004 [T/C] NM_020886 USP28 EXON Missense_N325S exm956797 11 113704206 [A/G] NM_020886 USP28 EXON Missense_F232S exm956804 11 113711324 [A/G] NM_020886 USP28 EXON Missense_I177T exm956805 11 113711399 [T/C] NM_020886 USP28 EXON Missense_N152S exm956811 11 113723244 [A/C] NM_020886 USP28 EXON Missense_A83S exm956815 11 113725011 [T/C] NM_020886 USP28 EXON Missense_Q35R exm956823 11 113775666 [A/G] NM_006028 HTR3B EXON Missense_S4N exm956834 11 113802586 [A/C] NM_006028 HTR3B EXON Missense_E122A exm956838 11 113803028 [A/C] NM_006028 HTR3B EXON Missense_Y129S exm2274531 11 113803070 [T/C] NM_006028 HTR3B EXON Missense_I143T exm956841 11 113803087 [A/G] NM_006028 HTR3B EXON Missense_I149V exm2249576 11 113803104 [A/G] NM_006028 HTR3B EXON Synonymous_A154A exm956843 11 113803108 [A/C] NM_006028 HTR3B EXON Missense_S156R exm956846 11 113803666 [A/G] NM_006028 HTR3B EXON Missense_V183I exm956849 11 113803786 [A/G] NM_006028 HTR3B EXON Missense_A223T exm956850 11 113803815 [T/G] NM_006028 HTR3B EXON Missense_N232K exm956854 11 113813713 [T/C] NM_006028 HTR3B EXON Missense_R236C exm956858 11 113813791 [T/A] NM_006028 HTR3B EXON Missense_Y262N exm956859 11 113813800 [C/G] NM_006028 HTR3B EXON Missense_P265A exm956860 11 113813810 [A/G] NM_006028 HTR3B EXON Missense_R268Q exm956861 11 113813819 [T/G] NM_006028 HTR3B EXON Missense_I271S exm956864 11 113813888 [G/C] NM_006028 HTR3B EXON Missense_R294P exm956865 11 113815354 [T/G] NM_006028 HTR3B EXON Missense_L323V exm956872 11 113815441 [A/T] NM_006028 HTR3B EXON Nonsense_R352X exm956873 11 113815447 [A/G] NM_006028 HTR3B EXON Missense_E354K exm956877 11 113816681 [T/C] NM_006028 HTR3B EXON Missense_S383L exm956879 11 113816743 [G/C] NM_006028 HTR3B EXON Missense_E404Q exm956880 11 113816753 [T/G] NM_006028 HTR3B EXON Missense_V407G exm956887 11 113816854 [A/G] NM_006028 HTR3B EXON Missense_V441M exm956890 11 113846041 [T/G] NM_000869,NM_213621,NR_046363 HTR3A,HTR3A,HTR3A EXON Missense_K4N,Missense_K4N,Silent exm956892 11 113846045 [A/G] NM_000869,NM_213621,NR_046363 HTR3A,HTR3A,HTR3A EXON Missense_A6T,Missense_A6T,Silent exm956906 11 113848522 [A/G] NM_000869,NM_213621,NR_046363,NM_001161772 HTR3A,HTR3A,HTR3A,HTR3A EXON Missense_A39T,Missense_A39T,Silent,Missense_A18T exm956909 11 113848568 [T/G] NM_000869,NM_213621,NR_046363,NM_001161772 HTR3A,HTR3A,HTR3A,HTR3A EXON Missense_G54V,Missense_G54V,Silent,Missense_G33V exm956919 11 113850001 [T/G] NM_000869,NM_213621,NR_046363,NM_001161772 HTR3A,HTR3A,HTR3A,HTR3A Silent,Silent,Silent,Silent exm956942 11 113853961 [T/C] NM_000869,NM_213621,NR_046363,NM_001161772 HTR3A,HTR3A,HTR3A,HTR3A EXON Missense_P171L,Missense_P171L,Silent,Missense_P150L exm956947 11 113856764 [A/G] NM_000869,NM_213621,NR_046363,NM_001161772 HTR3A,HTR3A,HTR3A,HTR3A EXON Missense_R197H,Missense_R197H,Silent,Missense_R176H exm956951 11 113856838 [T/C] NM_000869,NM_213621,NR_046363,NM_001161772 HTR3A,HTR3A,HTR3A,HTR3A EXON Missense_P222S,Missense_P222S,Silent,Missense_P201S exm956958 11 113857253 [A/G] NM_000869,NM_213621,NR_046363,NM_001161772 HTR3A,HTR3A,HTR3A,HTR3A EXON Missense_R246Q,Missense_R246Q,Silent,Missense_R225Q exm956979 11 113857612 [T/C] NM_000869,NM_213621,NR_046363,NM_001161772 HTR3A,HTR3A,HTR3A,HTR3A EXON Missense_R334W,Missense_R366W,Silent,Missense_R313W exm956982 11 113857661 [A/G] NM_000869,NM_213621,NR_046363,NM_001161772 HTR3A,HTR3A,HTR3A,HTR3A EXON Missense_R350H,Missense_R382H,Silent,Missense_R329H exm1695224 11 113860274 [A/G] NM_000869,NM_213621,NR_046363,NM_001161772 HTR3A,HTR3A,HTR3A,HTR3A EXON Missense_R415Q,Missense_R447Q,Silent,Missense_R394Q exm956989 11 113860289 [T/C] NM_000869,NM_213621,NR_046363,NM_001161772 HTR3A,HTR3A,HTR3A,HTR3A EXON Missense_A420V,Missense_A452V,Silent,Missense_A399V exm2259698 11 113910276 [T/C] exm957006 11 113934075 [T/C] NM_006006,NM_001018011 ZBTB16,ZBTB16 EXON Missense_T18M,Missense_T18M exm2249577 11 113934436 [T/C] NM_006006,NM_001018011 ZBTB16,ZBTB16 EXON Synonymous_A138A,Synonymous_A138A exm957026 11 113934587 [A/G] NM_006006,NM_001018011 ZBTB16,ZBTB16 EXON Missense_T189A,Missense_T189A exm957043 11 113935094 [A/G] NM_006006,NM_001018011 ZBTB16,ZBTB16 EXON Missense_V358M,Missense_V358M exm-rs17116334 11 113961762 [T/C] NM_006006,NM_001018011 ZBTB16,ZBTB16 Silent,Silent exm957056 11 114027109 [A/G] NM_006006,NM_001018011 ZBTB16,ZBTB16 EXON Missense_R440Q,Missense_R440Q exm2271559 11 114089104 [T/C] NM_006006,NM_001018011 ZBTB16,ZBTB16 Silent,Silent exm957068 11 114117921 [T/C] NM_006006,NM_001018011 ZBTB16,ZBTB16 EXON Synonymous_G542G,Synonymous_G542G exm957071 11 114117994 [A/C] NM_006006,NM_001018011 ZBTB16,ZBTB16 EXON Missense_I567L,Missense_I567L exm1695275 11 114168675 [A/G] NM_006169 NNMT EXON Missense_G53S exm957109 11 114182950 [A/C] NM_006169 NNMT EXON Missense_N182K exm957119 11 114183056 [T/C] NM_006169 NNMT EXON Missense_R218W exm957122 11 114183120 [T/C] NM_006169 NNMT EXON Missense_S239L exm-rs2847476 11 114191016 [A/G] exm2267226 11 114233785 [A/G] exm957130 11 114270802 [T/G] NM_019021,NM_001271562 C11orf71,C11orf71 EXON Missense_S84R,Missense_S84R exm957142 11 114270997 [G/C] NM_019021,NM_001271562 C11orf71,C11orf71 EXON Nonsense_Y19X,Nonsense_Y19X exm957145 11 114271029 [T/A] NM_019021,NM_001271562 C11orf71,C11orf71 EXON Missense_S9T,Missense_S9T exm957146 11 114271043 [T/C] NM_019021,NM_001271562 C11orf71,C11orf71 EXON Missense_N4S,Missense_N4S exm957187 11 114310345 [T/C] NM_015523 REXO2 EXON Missense_A32V exm957190 11 114310357 [A/G] NM_015523 REXO2 EXON Missense_G36E exm957194 11 114311413 [T/G] NM_015523 REXO2 EXON Missense_I61M exm957201 11 114316718 [A/G] NM_015523 REXO2 EXON Missense_D147N exm957214 11 114392694 [A/C] NM_152315 NXPE1 EXON Missense_C405F exm957218 11 114392758 [T/C] NM_152315 NXPE1 EXON Missense_D384N exm957221 11 114392793 [A/G] NM_152315 NXPE1 EXON Missense_I372T exm957228 11 114392943 [A/T] NM_152315 NXPE1 EXON Missense_L322Q exm2276211 11 114393032 [A/G] NM_152315 NXPE1 EXON Synonymous_I292I exm957234 11 114393072 [T/C] NM_152315 NXPE1 EXON Missense_R279Q exm957235 11 114393091 [A/C] NM_152315 NXPE1 EXON Missense_D273Y exm957236 11 114393093 [A/G] NM_152315 NXPE1 EXON Missense_I272T exm957238 11 114393118 [T/C] NM_152315 NXPE1 EXON Missense_V264I exm957243 11 114393204 [A/T] NM_152315 NXPE1 EXON Missense_H235L exm957246 11 114393601 [T/A] NM_152315 NXPE1 EXON Missense_T228S exm957249 11 114393636 [T/C] NM_152315 NXPE1 EXON Missense_R216H exm957252 11 114393652 [T/C] NM_152315 NXPE1 EXON Missense_G211R exm957254 11 114393716 [T/G] NM_152315 NXPE1 EXON Missense_N189K exm957255 11 114393757 [T/C] NM_152315 NXPE1 EXON Missense_G176S exm957264 11 114400948 [T/C] NM_152315 NXPE1 EXON Missense_R119Q exm957267 11 114400991 [G/C] NM_152315 NXPE1 EXON Missense_P105A exm957270 11 114401161 [A/G] NM_152315 NXPE1 EXON Missense_S48L exm957281 11 114401284 [A/G] NM_152315 NXPE1 EXON Missense_T7M exm957295 11 114441788 [A/G] NM_017678,NM_001077639 NXPE4,NXPE4 EXON Missense_F219L,Missense_F503L exm957299 11 114441937 [T/C] NM_017678,NM_001077639 NXPE4,NXPE4 EXON Missense_N169S,Missense_N453S exm957301 11 114441943 [A/G] NM_017678,NM_001077639 NXPE4,NXPE4 EXON Missense_A167V,Missense_A451V exm957306 11 114442082 [A/G] NM_017678,NM_001077639 NXPE4,NXPE4 EXON Missense_S121P,Missense_S405P exm957307 11 114442087 [A/G] NM_017678,NM_001077639 NXPE4,NXPE4 EXON Missense_I119T,Missense_I403T exm957309 11 114442103 [A/G] NM_017678,NM_001077639 NXPE4,NXPE4 EXON Missense_Y114H,Missense_Y398H exm957312 11 114442141 [A/G] NM_017678,NM_001077639 NXPE4,NXPE4 EXON Missense_V101A,Missense_V385A exm957313 11 114442145 [T/C] NM_017678,NM_001077639 NXPE4,NXPE4 EXON Missense_A100T,Missense_A384T exm957327 11 114451010 [T/C] NM_017678,NM_001077639 NXPE4,NXPE4 EXON Missense_I31V,Missense_I315V exm957328 11 114451051 [A/G] NM_017678,NM_001077639 NXPE4,NXPE4 EXON Missense_V17A,Missense_V301A exm957331 11 114453029 [T/C] NM_017678,NM_001077639 NXPE4,NXPE4 EXON Silent,Missense_E271K exm957336 11 114453094 [A/G] NM_017678,NM_001077639 NXPE4,NXPE4 EXON Silent,Missense_M249T exm957342 11 114453226 [A/G] NM_017678,NM_001077639 NXPE4,NXPE4 EXON Silent,Missense_T205I exm957347 11 114453389 [A/C] NM_017678,NM_001077639 NXPE4,NXPE4 EXON Silent,Missense_A151S exm957348 11 114453403 [A/G] NM_017678,NM_001077639 NXPE4,NXPE4 EXON Silent,Missense_A146V exm957349 11 114453418 [T/C] NM_017678,NM_001077639 NXPE4,NXPE4 EXON Silent,Missense_R141K exm957352 11 114453455 [A/G] NM_017678,NM_001077639 NXPE4,NXPE4 EXON Silent,Missense_R129C exm957354 11 114453511 [A/G] NM_017678,NM_001077639 NXPE4,NXPE4 EXON Silent,Missense_T110M exm957358 11 114453556 [A/G] NM_017678,NM_001077639 NXPE4,NXPE4 EXON Silent,Missense_T95I exm957361 11 114453670 [G/C] NM_017678,NM_001077639 NXPE4,NXPE4 EXON Silent,Missense_T57R exm957362 11 114453679 [A/G] NM_017678,NM_001077639 NXPE4,NXPE4 EXON Silent,Missense_F54S exm957364 11 114453742 [A/G] NM_017678,NM_001077639 NXPE4,NXPE4 EXON Silent,Missense_V33A exm957374 11 114568942 [T/C] NM_182495 NXPE2 EXON Missense_V103A exm957381 11 114569445 [A/G] NM_182495 NXPE2 EXON Missense_T271A exm957383 11 114574723 [T/G] NM_182495 NXPE2 EXON Nonsense_G293X exm957388 11 114576626 [T/A] NM_182495 NXPE2 EXON Missense_N351I exm957389 11 114576683 [A/G] NM_182495 NXPE2 EXON Missense_H370R exm957394 11 114577395 [T/C] NM_182495 NXPE2 EXON Missense_R475C exm957398 11 114577518 [T/G] NM_182495 NXPE2 EXON Missense_D516Y exm2217995 11 114577539 [A/G] NM_182495 NXPE2 EXON Missense_V523M exm957400 11 114577559 [A/G] NM_182495 NXPE2 EXON Nonsense_W529X exm957401 11 114577567 [T/C] NM_182495 NXPE2 EXON Missense_T532M exm-rs1712790 11 114621469 [T/C] exm2267227 11 114916450 [A/G] exm2259699 11 114928683 [T/C] exm957419 11 115085329 [A/G] NM_014333,NM_001098517 CADM1,CADM1 EXON Synonymous_Y331Y,Synonymous_Y331Y exm957425 11 115085467 [A/C] NM_014333,NM_001098517 CADM1,CADM1 EXON Missense_D285E,Missense_D285E exm957430 11 115088681 [T/G] NM_014333,NM_001098517 CADM1,CADM1 EXON Missense_Y251S,Missense_Y251S exm-rs220859 11 115312071 [T/C] NM_014333,NM_001098517 CADM1,CADM1 Silent,Silent exm957468 11 115375093 [C/G] NM_014333,NM_001098517 CADM1,CADM1 EXON Missense_P7R,Missense_P7R exm957469 11 115375100 [G/C] NM_014333,NM_001098517 CADM1,CADM1 EXON Missense_V5L,Missense_V5L exm2271560 11 115515326 [T/C] exm2267299 11 115552918 [A/G] exm2249584 11 115685475 [A/G] exm-rs638882 11 115764045 [T/C] exm-rs490592 11 116298367 [A/C] exm2259701 11 116379889 [A/G] exm2271561 11 116421056 [T/C] exm-rs1240773 11 116520527 [T/G] exm-rs4938303 11 116584987 [T/C] exm-rs7350481 11 116586283 [T/C] exm-rs180358 11 116599392 [T/C] exm-rs12272004 11 116603724 [A/C] exm-rs9326246 11 116611733 [G/C] exm-rs12280753 11 116613660 [T/C] exm-rs28927680 11 116619073 [C/G] NM_001159736,NM_032725 BUD13,BUD13 EXON Silent,Silent exm2249587 11 116619225 [A/G] NM_001159736,NM_032725 BUD13,BUD13 EXON Synonymous_A477A,Synonymous_A611A exm2249588 11 116627873 [A/G] NM_001159736,NM_032725 BUD13,BUD13 EXON Synonymous_D451D,Synonymous_D585D exm957506 11 116631469 [T/A] NM_001159736,NM_032725 BUD13,BUD13 EXON Missense_S278R,Missense_S412R exm957508 11 116631482 [A/G] NM_001159736,NM_032725 BUD13,BUD13 EXON Missense_P274L,Missense_P408L exm957510 11 116631542 [G/C] NM_001159736,NM_032725 BUD13,BUD13 EXON Missense_S254C,Missense_S388C exm957511 11 116631555 [A/G] NM_001159736,NM_032725 BUD13,BUD13 EXON Missense_R250W,Missense_R384W exm957516 11 116631627 [A/G] NM_001159736,NM_032725 BUD13,BUD13 EXON Missense_R226W,Missense_R360W exm957521 11 116633322 [T/C] NM_001159736,NM_032725 BUD13,BUD13 EXON Silent,Missense_R328Q exm957526 11 116633353 [T/A] NM_001159736,NM_032725 BUD13,BUD13 EXON Silent,Missense_Y318N exm957532 11 116633548 [T/C] NM_001159736,NM_032725 BUD13,BUD13 EXON Silent,Missense_R253G exm957535 11 116633580 [A/C] NM_001159736,NM_032725 BUD13,BUD13 EXON Silent,Missense_R242I exm957543 11 116633724 [T/C] NM_001159736,NM_032725 BUD13,BUD13 EXON Missense_R194H,Missense_R194H exm957548 11 116633763 [T/C] NM_001159736,NM_032725 BUD13,BUD13 EXON Missense_R181H,Missense_R181H exm2217997 11 116633841 [T/G] NM_001159736,NM_032725 BUD13,BUD13 EXON Missense_A155D,Missense_A155D exm957556 11 116633862 [A/G] NM_001159736,NM_032725 BUD13,BUD13 EXON Missense_P148L,Missense_P148L exm957566 11 116633946 [T/C] NM_001159736,NM_032725 BUD13,BUD13 EXON Missense_R120H,Missense_R120H exm957567 11 116633947 [A/G] NM_001159736,NM_032725 BUD13,BUD13 EXON Missense_R120C,Missense_R120C exm957568 11 116633974 [T/C] NM_001159736,NM_032725 BUD13,BUD13 EXON Missense_E111K,Missense_E111K exm-rs10790162 11 116639104 [A/G] NM_001159736,NM_032725 BUD13,BUD13 Silent,Silent exm957577 11 116640933 [T/C] NM_001159736,NM_032725 BUD13,BUD13 EXON Missense_R50Q,Missense_R50Q exm1695557 11 116643617 [A/C] NM_001159736,NM_032725 BUD13,BUD13 EXON Missense_A22S,Missense_A22S exm1695558 11 116643655 [T/A] NM_001159736,NM_032725 BUD13,BUD13 EXON Missense_K9M,Missense_K9M exm-rs964184 11 116648917 [G/C] exm-rs11823543 11 116649135 [A/G] exm957585 11 116649645 [T/C] NM_003904 ZNF259 EXON Missense_R459Q exm957588 11 116649732 [C/G] NM_003904 ZNF259 EXON Missense_R430P exm957591 11 116649759 [T/C] NM_003904 ZNF259 EXON Missense_E421G exm957593 11 116649765 [A/G] NM_003904 ZNF259 EXON Missense_A419V exm-rs12286037 11 116652207 [T/C] NM_003904 ZNF259 Silent exm957600 11 116652892 [T/A] NM_003904 ZNF259 EXON Missense_F387L exm-rs2075290 11 116653296 [T/C] NM_003904 ZNF259 Silent exm957617 11 116655600 [A/G] NM_003904 ZNF259 EXON Missense_A264V exm957620 11 116655859 [T/C] NM_003904 ZNF259 EXON Missense_E237K exm957623 11 116656258 [T/C] NM_003904 ZNF259 EXON Missense_R226Q exm957627 11 116656314 [T/G] NM_003904 ZNF259 EXON Missense_N207K exm957631 11 116656586 [G/C] NM_003904 ZNF259 EXON Missense_A170P exm957642 11 116658592 [T/C] NM_003904 ZNF259 EXON Missense_D39N exm-rs2266788 11 116660686 [A/G] NM_001166598,NM_052968 APOA5,APOA5 EXON Silent,Silent exm957660 11 116660983 [A/T] NM_001166598,NM_052968 APOA5,APOA5 EXON Missense_H321L,Missense_H321L exm957661 11 116661001 [A/G] NM_001166598,NM_052968 APOA5,APOA5 EXON Missense_A315V,Missense_A315V exm957668 11 116661101 [T/G] NM_001166598,NM_052968 APOA5,APOA5 EXON Missense_R282S,Missense_R282S exm957672 11 116661122 [A/G] NM_001166598,NM_052968 APOA5,APOA5 EXON Nonsense_Q275X,Nonsense_Q275X exm957682 11 116661392 [A/C] NM_001166598,NM_052968 APOA5,APOA5 EXON Missense_G185C,Missense_G185C exm957687 11 116661488 [T/C] NM_001166598,NM_052968 APOA5,APOA5 EXON Missense_V153M,Missense_V153M exm957699 11 116661656 [A/G] NM_001166598,NM_052968 APOA5,APOA5 EXON Nonsense_Q97X,Nonsense_Q97X exm957700 11 116661665 [A/G] NM_001166598,NM_052968 APOA5,APOA5 EXON Missense_R94W,Missense_R94W exm957708 11 116662344 [A/C] NM_001166598,NM_052968 APOA5,APOA5 EXON Missense_R40M,Missense_R40M exm957709 11 116662352 [T/G] NM_001166598,NM_052968 APOA5,APOA5 EXON Missense_D37E,Missense_D37E exm957713 11 116662407 [G/C] NM_001166598,NM_052968 APOA5,APOA5 EXON Missense_S19W,Missense_S19W exm957719 11 116691621 [T/G] NM_000482 APOA4 EXON Missense_Q385K exm957721 11 116691634 [A/C] NM_000482 APOA4 EXON Missense_Q380H exm957724 11 116691675 [T/A] NM_000482 APOA4 EXON Missense_T367S exm957726 11 116691717 [A/C] NM_000482 APOA4 EXON Missense_S353A exm957730 11 116691768 [T/C] NM_000482 APOA4 EXON Missense_V336M exm1695618 11 116691855 [C/G] NM_000482 APOA4 EXON Missense_V307L exm957733 11 116691858 [A/G] NM_000482 APOA4 EXON Missense_R306W exm957734 11 116691861 [A/G] NM_000482 APOA4 EXON Missense_R305C exm957739 11 116691954 [T/C] NM_000482 APOA4 EXON Missense_V274M exm957742 11 116691983 [T/C] NM_000482 APOA4 EXON Missense_R264Q exm957759 11 116692221 [T/C] NM_000482 APOA4 EXON Missense_E185K exm957760 11 116692224 [T/C] NM_000482 APOA4 EXON Missense_D184N exm957773 11 116692334 [T/C] NM_000482 APOA4 EXON Missense_S147N exm957777 11 116692393 [T/G] NM_000482 APOA4 EXON Missense_N127K exm1695630 11 116692454 [T/C] NM_000482 APOA4 EXON Missense_E107G exm957784 11 116692521 [T/C] NM_000482 APOA4 EXON Missense_T85A exm1695633 11 116693860 [A/G] NM_000482 APOA4 EXON Synonymous_A16A exm1695634 11 116693862 [T/C] NM_000482 APOA4 EXON Missense_A16T exm957799 11 116693871 [T/C] NM_000482 APOA4 EXON Missense_V13M exm957801 11 116693892 [T/C] NM_000482 APOA4 EXON Missense_V6M exm957809 11 116701353 [T/C] NM_000040 APOC3 EXON Nonsense_R19X exm957810 11 116701354 [A/G] NM_000040 APOC3 Silent exm957815 11 116701560 [A/G] NM_000040 APOC3 EXON Missense_A43T exm957817 11 116701613 [T/G] NM_000040 APOC3 Silent exm957853 11 116707044 [T/A] NM_000039 APOA1 EXON Missense_F95Y exm2218004 11 116707736 [T/C] NM_000039 APOA1 EXON Missense_A61T exm957858 11 116707739 [A/C] NM_000039 APOA1 EXON Missense_S60A exm957861 11 116707837 [T/G] NM_000039 APOA1 EXON Missense_P27H exm2218005 11 116714118 [T/G] NM_025164 SIK3 EXON Silent exm957884 11 116719960 [C/G] NM_025164 SIK3 EXON Missense_G1126A exm-rs10047462 11 116722041 [T/G] NM_025164 SIK3 Silent exm2274532 11 116728743 [C/G] NM_025164 SIK3 EXON Missense_D1040E exm957895 11 116728889 [T/C] NM_025164 SIK3 EXON Missense_A992T exm957897 11 116728913 [A/G] NM_025164 SIK3 EXON Missense_R984C exm957900 11 116728975 [T/C] NM_025164 SIK3 EXON Missense_H963R exm2218007 11 116730108 [T/C] NM_025164 SIK3 EXON Missense_G774S exm957926 11 116730315 [T/C] NM_025164 SIK3 EXON Missense_A705T exm-rs2075292 11 116732512 [T/G] NM_025164 SIK3 Silent exm957944 11 116734496 [A/G] NM_025164 SIK3 EXON Missense_T558M exm957949 11 116744219 [A/G] NM_025164 SIK3 EXON Missense_S514F exm957978 11 116747005 [T/C] NM_025164 SIK3 EXON Missense_M295I exm957979 11 116747025 [T/C] NM_025164 SIK3 EXON Missense_E289K exm957992 11 116798052 [A/G] NM_025164 SIK3 EXON Missense_R109W exm2264455 11 116896155 [A/C] NM_025164 SIK3 Silent exm958003 11 116968937 [T/G] NM_025164 SIK3 EXON Nonsense_Y7X exm-rs12269901 11 116973929 [G/C] exm-rs7112513 11 117037361 [A/G] NM_001184747,NM_001184746,NM_001184748,NM_002572 PAFAH1B2,PAFAH1B2,PAFAH1B2,PAFAH1B2 Silent,Silent,Silent,Silent exm958027 11 117038251 [A/G] NM_001184747,NM_001184746,NM_001184748,NM_002572 PAFAH1B2,PAFAH1B2,PAFAH1B2,PAFAH1B2 EXON Silent,Silent,Silent,Missense_D176N exm2273486 11 117038426 [T/C] NM_001184747,NM_001184746,NM_001184748,NM_002572 PAFAH1B2,PAFAH1B2,PAFAH1B2,PAFAH1B2 EXON Silent,Silent,Silent,Silent exm958032 11 117042377 [A/G] NM_001184747,NM_001184746,NM_001184748 PAFAH1B2,PAFAH1B2,PAFAH1B2 EXON Silent,Missense_V151M,Silent exm958033 11 117042408 [T/C] NM_001184747,NM_001184746,NM_001184748 PAFAH1B2,PAFAH1B2,PAFAH1B2 EXON Silent,Missense_S161L,Silent exm2218009 11 117042455 [T/A] NM_001184747,NM_001184746,NM_001184748 PAFAH1B2,PAFAH1B2,PAFAH1B2 EXON Silent,Missense_I177L,Silent exm958036 11 117050007 [A/G] NM_001040455 SIDT2 EXON Missense_V10M exm958037 11 117050010 [G/C] NM_001040455 SIDT2 EXON Missense_L11V exm2249589 11 117050120 [C/G] NM_001040455 SIDT2 EXON Synonymous_L47L exm958052 11 117052162 [G/C] NM_001040455 SIDT2 EXON Missense_L72V exm958069 11 117052611 [A/G] NM_001040455 SIDT2 EXON Missense_V132M exm958073 11 117052656 [T/C] NM_001040455 SIDT2 EXON Missense_R147W exm958075 11 117052674 [A/G] NM_001040455 SIDT2 EXON Missense_D153N exm958078 11 117052799 [A/G] NM_001040455 SIDT2 EXON Missense_N165S exm958082 11 117053269 [T/C] NM_001040455 SIDT2 EXON Missense_S184L exm958096 11 117054496 [A/G] NM_001040455 SIDT2 EXON Missense_R235H exm958099 11 117054561 [A/G] NM_001040455 SIDT2 EXON Missense_G257R exm958101 11 117054588 [A/G] NM_001040455 SIDT2 EXON Missense_A266T exm2218011 11 117054837 [A/G] NM_001040455 SIDT2 EXON Missense_V284M exm958112 11 117056868 [T/G] NM_001040455 SIDT2 EXON Missense_M297I exm958114 11 117056911 [A/G] NM_001040455 SIDT2 EXON Missense_V312I exm958121 11 117057341 [C/G] NM_001040455 SIDT2 EXON Missense_C335S exm958125 11 117058108 [A/C] NM_001040455 SIDT2 EXON Missense_L344M exm958138 11 117059427 [A/G] NM_001040455 SIDT2 EXON Missense_R388H exm958143 11 117059447 [A/G] NM_001040455 SIDT2 EXON Missense_T395A exm958165 11 117060989 [A/G] NM_001040455 SIDT2 EXON Missense_N534S exm958188 11 117062989 [T/C] NM_001040455 SIDT2 EXON Missense_T631M exm958193 11 117063027 [T/G] NM_001040455 SIDT2 EXON Missense_A644S exm958196 11 117063340 [T/C] NM_001040455 SIDT2 EXON Missense_R678W exm958210 11 117063891 [T/C] NM_001040455 SIDT2 EXON Missense_R710C exm958232 11 117073784 [A/G] NM_001001522,NM_003186 TAGLN,TAGLN EXON Missense_E19K,Missense_E19K exm958236 11 117073821 [T/G] NM_001001522,NM_003186 TAGLN,TAGLN EXON Missense_V31G,Missense_V31G exm958240 11 117073859 [T/C] NM_001001522,NM_003186 TAGLN,TAGLN EXON Missense_R44C,Missense_R44C exm958244 11 117074050 [T/C] NM_001001522,NM_003186 TAGLN,TAGLN EXON Missense_Y70H,Missense_Y70H exm958248 11 117074071 [G/C] NM_001001522,NM_003186 TAGLN,TAGLN EXON Missense_V77L,Missense_V77L exm958262 11 117075014 [A/G] NM_001001522,NM_003186 TAGLN,TAGLN EXON Missense_N182S,Missense_N182S exm958263 11 117075022 [T/G] NM_001001522,NM_003186 TAGLN,TAGLN EXON Missense_A185S,Missense_A185S exm958268 11 117075052 [T/C] NM_001001522,NM_003186 TAGLN,TAGLN EXON Nonsense_R195X,Nonsense_R195X exm958269 11 117075059 [A/G] NM_001001522,NM_003186 TAGLN,TAGLN EXON Missense_R197Q,Missense_R197Q exm1695819 11 117076940 [A/G] NM_004716 PCSK7 EXON Missense_R711W exm958309 11 117089205 [T/C] NM_004716 PCSK7 EXON Missense_R504H exm958315 11 117089242 [T/C] NM_004716 PCSK7 EXON Missense_V492M exm958323 11 117089801 [T/C] NM_004716 PCSK7 EXON Missense_N468S exm-rs236918 11 117091609 [C/G] NM_004716 PCSK7 Silent exm958360 11 117097932 [A/G] NM_004716 PCSK7 EXON Missense_A237V exm958363 11 117098029 [T/C] NM_004716 PCSK7 EXON Missense_G205S exm2218016 11 117098967 [T/C] NM_004716 PCSK7 EXON Missense_V190M exm958377 11 117100109 [A/G] NM_004716 PCSK7 EXON Missense_P151L exm2276212 11 117100134 [A/C] NM_004716 PCSK7 EXON Missense_V143F exm958383 11 117100257 [T/C] NM_004716 PCSK7 EXON Missense_A102T exm958389 11 117100340 [A/G] NM_004716 PCSK7 EXON Missense_A74V exm1695860 11 117105004 [T/G] NM_207343,NM_001077239 RNF214,RNF214 EXON Missense_V6F,Missense_V6F exm958403 11 117105034 [T/C] NM_207343,NM_001077239 RNF214,RNF214 EXON Missense_P16S,Missense_P16S exm1695865 11 117109424 [A/G] NM_207343,NM_001077239 RNF214,RNF214 EXON Missense_Q72R,Missense_Q72R exm958426 11 117109636 [G/C] NM_207343,NM_001077239 RNF214,RNF214 EXON Missense_Q143E,Missense_Q143E exm958427 11 117109724 [A/G] NM_207343,NM_001077239 RNF214,RNF214 EXON Missense_R172Q,Missense_R172Q exm2249590 11 117112526 [T/G] NM_207343,NM_001077239 RNF214,RNF214 Silent,Silent exm958438 11 117117622 [T/A] NM_207343,NM_001077239 RNF214,RNF214 EXON Missense_D306V,Missense_D306V exm958454 11 117152820 [T/C] NM_207343,NM_001077239 RNF214,RNF214 EXON Missense_S516P,Missense_S516P exm-rs1047964 11 117156893 [C/G] NM_138971,NM_001207049,NM_012104,NM_138973,NM_138972,NM_001207048 BACE1,BACE1,BACE1,BACE1,BACE1,BACE1 EXON Silent,Silent,Silent,Silent,Silent,Silent exm958470 11 117160329 [A/G] NM_138971,NM_001207049,NM_012104,NM_138973,NM_138972,NM_001207048 BACE1,BACE1,BACE1,BACE1,BACE1,BACE1 EXON Missense_R443C,Missense_R362C,Missense_R487C,Missense_R418C,Missense_R462C,Missense_R387C exm958471 11 117160347 [A/G] NM_138971,NM_001207049,NM_012104,NM_138973,NM_138972,NM_001207048 BACE1,BACE1,BACE1,BACE1,BACE1,BACE1 EXON Missense_C437R,Missense_C356R,Missense_C481R,Missense_C412R,Missense_C456R,Missense_C381R exm958472 11 117160380 [T/G] NM_138971,NM_001207049,NM_012104,NM_138973,NM_138972,NM_001207048 BACE1,BACE1,BACE1,BACE1,BACE1,BACE1 EXON Missense_M426L,Missense_M345L,Missense_M470L,Missense_M401L,Missense_M445L,Missense_M370L exm958476 11 117160435 [T/A] NM_138971,NM_001207049,NM_012104,NM_138973,NM_138972,NM_001207048 BACE1,BACE1,BACE1,BACE1,BACE1,BACE1 EXON Missense_D407E,Missense_D326E,Missense_D451E,Missense_D382E,Missense_D426E,Missense_D351E exm958502 11 117162427 [T/C] NM_138971,NM_001207049,NM_012104,NM_138973,NM_138972,NM_001207048,NR_037803 BACE1,BACE1,BACE1,BACE1,BACE1,BACE1,BACE1-AS EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent exm958539 11 117222592 [A/G] NM_001271933,NM_014956 CEP164,CEP164 EXON Missense_S94N,Missense_S94N exm958543 11 117222649 [A/G] NM_001271933,NM_014956 CEP164,CEP164 EXON Missense_K113R,Missense_K113R exm958546 11 117222691 [A/C] NM_001271933,NM_014956 CEP164,CEP164 EXON Missense_P127H,Missense_P127H exm958555 11 117232608 [T/C] NM_001271933,NM_014956 CEP164,CEP164 EXON Nonsense_R151X,Nonsense_R151X exm958565 11 117232705 [A/T] NM_001271933,NM_014956 CEP164,CEP164 EXON Missense_M183K,Missense_M183K exm958572 11 117234205 [A/G] NM_001271933,NM_014956 CEP164,CEP164 EXON Missense_G250S,Missense_G250S exm958582 11 117241974 [A/G] NM_001271933,NM_014956 CEP164,CEP164 EXON Missense_E315G,Missense_E315G exm958584 11 117242072 [C/G] NM_001271933,NM_014956 CEP164,CEP164 EXON Missense_P348A,Missense_P348A exm958585 11 117242165 [A/G] NM_001271933,NM_014956 CEP164,CEP164 EXON Missense_S379G,Missense_S379G exm958591 11 117244534 [T/C] NM_001271933,NM_014956 CEP164,CEP164 EXON Missense_S407F,Missense_S407F exm958594 11 117246506 [T/A] NM_001271933,NM_014956 CEP164,CEP164 EXON Missense_Q439L,Missense_Q439L exm958600 11 117252415 [A/G] NM_001271933,NM_014956 CEP164,CEP164 Silent,Silent exm958602 11 117252445 [T/C] NM_001271933,NM_014956 CEP164,CEP164 EXON Missense_R483W,Missense_R480W exm1695940 11 117252487 [A/C] NM_001271933,NM_014956 CEP164,CEP164 EXON Missense_P497T,Missense_P494T exm958609 11 117253573 [A/G] NM_001271933,NM_014956 CEP164,CEP164 EXON Missense_E550K,Missense_E547K exm958611 11 117253625 [T/C] NM_001271933,NM_014956 CEP164,CEP164 EXON Missense_A567V,Missense_A564V exm958613 11 117253636 [A/C] NM_001271933,NM_014956 CEP164,CEP164 EXON Missense_T571P,Missense_T568P exm958616 11 117257920 [T/C] NM_001271933,NM_014956 CEP164,CEP164 EXON Nonsense_R579X,Nonsense_R576X exm958623 11 117257986 [A/G] NM_001271933,NM_014956 CEP164,CEP164 EXON Missense_A601T,Missense_A598T exm958624 11 117258047 [T/C] NM_001271933,NM_014956 CEP164,CEP164 EXON Missense_M621T,Missense_M618T exm958625 11 117258059 [A/G] NM_001271933,NM_014956 CEP164,CEP164 EXON Missense_R625Q,Missense_R622Q exm958635 11 117261579 [A/G] NM_001271933,NM_014956 CEP164,CEP164 EXON Missense_R677Q,Missense_R674Q exm958644 11 117261854 [A/G] NM_001271933,NM_014956 CEP164,CEP164 EXON Missense_E739K,Missense_E736K exm958649 11 117263014 [T/C] NM_001271933,NM_014956 CEP164,CEP164 EXON Missense_R789W,Missense_R786W exm958661 11 117265111 [G/C] NM_001271933,NM_014956 CEP164,CEP164 EXON Missense_L891V,Missense_L888V exm958667 11 117265193 [A/G] NM_001271933,NM_014956 CEP164,CEP164 EXON Missense_R918H,Missense_R915H exm958678 11 117266269 [A/G] NM_001271933,NM_014956 CEP164,CEP164 EXON Missense_T977A,Missense_T974A exm958681 11 117266312 [C/G] NM_001271933,NM_014956 CEP164,CEP164 EXON Missense_T991S,Missense_T988S exm958684 11 117266350 [C/G] NM_001271933,NM_014956 CEP164,CEP164 EXON Missense_L1004V,Missense_L1001V exm958686 11 117266368 [T/C] NM_001271933,NM_014956 CEP164,CEP164 EXON Missense_R1010C,Missense_R1007C exm958688 11 117266381 [T/C] NM_001271933,NM_014956 CEP164,CEP164 EXON Missense_L1014P,Missense_L1011P exm2218022 11 117267303 [A/G] NM_001271933,NM_014956 CEP164,CEP164 EXON Missense_S1088N,Missense_S1085N exm958707 11 117267317 [T/C] NM_001271933,NM_014956 CEP164,CEP164 EXON Missense_Y1093H,Missense_Y1090H exm958708 11 117267860 [A/G] NM_001271933,NM_014956 CEP164,CEP164 EXON Missense_R1114H,Missense_R1111H exm958711 11 117267892 [T/C] NM_001271933,NM_014956 CEP164,CEP164 EXON Missense_R1125C,Missense_R1122C exm958712 11 117267893 [A/G] NM_001271933,NM_014956 CEP164,CEP164 EXON Missense_R1125H,Missense_R1122H exm958729 11 117279712 [T/C] NM_001271933,NM_014956 CEP164,CEP164 EXON Missense_P1242L,Missense_P1239L exm958738 11 117280349 [T/G] NM_001271933,NM_014956 CEP164,CEP164 EXON Missense_S1250I,Missense_S1255I exm958739 11 117280358 [T/C] NM_001271933,NM_014956 CEP164,CEP164 EXON Missense_S1253F,Missense_S1258F exm958743 11 117280391 [A/G] NM_001271933,NM_014956 CEP164,CEP164 EXON Missense_R1264Q,Missense_R1269Q exm958755 11 117280517 [C/G] NM_001271933,NM_014956 CEP164,CEP164 EXON Missense_T1306S,Missense_T1311S exm958760 11 117280645 [A/G] NM_001271933,NM_014956 CEP164,CEP164 EXON Missense_D1349N,Missense_D1354N exm1696001 11 117281550 [T/C] NM_001271933,NM_014956 CEP164,CEP164 EXON Missense_I1363T,Missense_I1368T exm958765 11 117281553 [T/C] NM_001271933,NM_014956 CEP164,CEP164 EXON Missense_P1364L,Missense_P1369L exm958768 11 117281577 [T/C] NM_001271933,NM_014956 CEP164,CEP164 EXON Missense_P1372L,Missense_P1377L exm958777 11 117282575 [T/C] NM_001271933,NM_014956 CEP164,CEP164 EXON Nonsense_Q1405X,Nonsense_Q1410X exm958784 11 117282831 [G/C] NM_001271933,NM_014956 CEP164,CEP164 EXON Missense_L1439V,Missense_L1444V exm958786 11 117282876 [T/C] NM_001271933,NM_014956 CEP164,CEP164 EXON Missense_R1454C,Missense_R1459C exm-rs8258 11 117283676 [T/C] NM_001271933,NM_014956 CEP164,CEP164 EXON Silent,Silent exm958796 11 117299079 [T/C] NM_020693 DSCAML1 EXON Missense_A2103T exm2249591 11 117299143 [T/C] NM_020693 DSCAML1 EXON Synonymous_G2081G exm2218024 11 117299331 [T/C] NM_020693 DSCAML1 EXON Missense_G2019R exm958813 11 117299414 [T/C] NM_020693 DSCAML1 EXON Missense_R1991Q exm958815 11 117299416 [G/C] NM_020693 DSCAML1 EXON Missense_I1990M exm958816 11 117299424 [T/C] NM_020693 DSCAML1 EXON Missense_A1988T exm958819 11 117299457 [A/G] NM_020693 DSCAML1 EXON Missense_R1977C exm958826 11 117301480 [T/C] NM_020693 DSCAML1 EXON Missense_G1942S exm958828 11 117301482 [T/C] NM_020693 DSCAML1 EXON Missense_R1941Q exm1696021 11 117301521 [T/C] NM_020693 DSCAML1 EXON Missense_R1928H exm958833 11 117301570 [T/C] NM_020693 DSCAML1 EXON Missense_A1912T exm958835 11 117301645 [T/C] NM_020693 DSCAML1 EXON Missense_A1887T exm958859 11 117303104 [G/C] NM_020693 DSCAML1 EXON Missense_P1775A exm2249592 11 117303858 [T/C] NM_020693 DSCAML1 EXON Synonymous_Q1734Q exm958877 11 117306467 [T/G] NM_020693 DSCAML1 EXON Missense_K1650T exm958884 11 117307976 [A/G] NM_020693 DSCAML1 EXON Missense_L1588F exm958887 11 117308044 [T/C] NM_020693 DSCAML1 EXON Missense_N1565S exm958889 11 117308114 [T/C] NM_020693 DSCAML1 EXON Missense_S1542G exm958895 11 117308649 [T/C] NM_020693 DSCAML1 EXON Missense_R1525H exm958898 11 117308707 [T/C] NM_020693 DSCAML1 EXON Missense_K1506E exm958917 11 117310107 [T/C] NM_020693 DSCAML1 EXON Missense_R1400Q exm958955 11 117332289 [T/C] NM_020693 DSCAML1 EXON Missense_V1157I exm958965 11 117335805 [T/C] NM_020693 DSCAML1 EXON Missense_V1100M exm958971 11 117342585 [A/G] NM_020693 DSCAML1 EXON Synonymous_A1044A exm958994 11 117352857 [A/G] NM_020693 DSCAML1 EXON Missense_H854Y exm959009 11 117376211 [T/C] NM_020693 DSCAML1 EXON Missense_A734T exm959036 11 117389327 [T/C] NM_020693 DSCAML1 EXON Missense_R515H exm959037 11 117389328 [A/G] NM_020693 DSCAML1 EXON Missense_R515C exm2274533 11 117389343 [A/G] NM_020693 DSCAML1 EXON Missense_R510W exm959045 11 117389414 [A/G] NM_020693 DSCAML1 EXON Missense_S486L exm959048 11 117389466 [A/G] NM_020693 DSCAML1 EXON Missense_R469C exm1696132 11 117391995 [A/C] NM_020693 DSCAML1 EXON Missense_V415L exm959093 11 117403235 [T/G] NM_020693 DSCAML1 EXON Missense_H232N exm2271563 11 117436190 [T/C] NM_020693 DSCAML1 Silent exm-rs10892151 11 117531731 [T/C] NM_020693 DSCAML1 Silent exm959120 11 117667845 [A/C] NM_020693 DSCAML1 EXON Missense_A44S exm959138 11 117691574 [T/C] NM_001243598,NM_001680,NM_021603,NM_001204268 FXYD6-FXYD2,FXYD2,FXYD2,FXYD6-FXYD2 EXON Silent,Missense_R59K,Missense_R57K,Missense_R137K exm959140 11 117691599 [A/G] NM_001243598,NM_001680,NM_021603,NM_001204268 FXYD6-FXYD2,FXYD2,FXYD2,FXYD6-FXYD2 EXON Missense_P108L,Missense_R51C,Missense_R49C,Missense_R129C exm959148 11 117693150 [T/G] NM_001243598,NM_001680,NM_021603,NM_001204268 FXYD6-FXYD2,FXYD2,FXYD2,FXYD6-FXYD2 EXON Silent,Missense_A37D,Missense_A35D,Missense_A115D exm959151 11 117693184 [T/C] NM_001243598,NM_001680,NM_021603,NM_001204268 FXYD6-FXYD2,FXYD2,FXYD2,FXYD6-FXYD2 EXON Silent,Missense_V26I,Missense_V24I,Missense_V104I exm959159 11 117693403 [A/G] NM_001243598,NM_001680,NM_021603,NM_001204268 FXYD6-FXYD2,FXYD2,FXYD2,FXYD6-FXYD2 EXON Missense_V101A,Missense_F19L,Missense_F17L,Missense_F97L exm1696193 11 117711040 [T/C] NM_001243598,NM_001204268,NM_001164832,NM_001164831,NM_001164836,NM_022003,NM_001164837 FXYD6-FXYD2,FXYD6-FXYD2,FXYD6,FXYD6,FXYD6,FXYD6,FXYD6 EXON Synonymous_P72P,Silent,Missense_A85T,Missense_A85T,Missense_A85T,Missense_A85T,Missense_A85T exm959182 11 117711076 [G/C] NM_001243598,NM_001204268,NM_001164832,NM_001164831,NM_001164836,NM_022003,NM_001164837 FXYD6-FXYD2,FXYD6-FXYD2,FXYD6,FXYD6,FXYD6,FXYD6,FXYD6 EXON Missense_Q60H,Silent,Missense_G73R,Missense_G73R,Missense_G73R,Missense_G73R,Missense_G73R exm959187 11 117711864 [A/G] NM_001243598,NM_001204268,NM_001164832,NM_001164831,NM_001164836,NM_022003,NM_001164837 FXYD6-FXYD2,FXYD6-FXYD2,FXYD6,FXYD6,FXYD6,FXYD6,FXYD6 EXON Silent,Missense_R70C,Missense_R70W,Missense_R70W,Missense_R70W,Missense_R70W,Missense_R70W exm959193 11 117712732 [C/G] NM_001243598,NM_001204268,NM_001164832,NM_001164831,NM_001164836,NM_022003,NM_001164837 FXYD6-FXYD2,FXYD6-FXYD2,FXYD6,FXYD6,FXYD6,FXYD6,FXYD6 EXON Missense_E24Q,Missense_E24Q,Missense_E24Q,Missense_E24Q,Missense_E24Q,Missense_E24Q,Missense_E24Q exm959221 11 117776363 [A/C] NM_001206789,NM_001077263,NM_001244995 TMPRSS13,TMPRSS13,TMPRSS13 EXON Missense_R422S,Missense_R457S,Missense_R457S exm959224 11 117779305 [A/C] NM_001206789,NM_001077263,NM_001244995,NM_001206790 TMPRSS13,TMPRSS13,TMPRSS13,TMPRSS13 EXON Silent,Silent,Silent,Missense_R435L exm959236 11 117780558 [T/C] NM_001206789,NM_001077263,NM_001244995,NM_001206790 TMPRSS13,TMPRSS13,TMPRSS13,TMPRSS13 EXON Missense_A323T,Missense_A358T,Missense_A358T,Missense_A358T exm959237 11 117780582 [T/C] NM_001206789,NM_001077263,NM_001244995,NM_001206790 TMPRSS13,TMPRSS13,TMPRSS13,TMPRSS13 EXON Missense_I315V,Missense_I350V,Missense_I350V,Missense_I350V exm959247 11 117781446 [A/G] NM_001206789,NM_001077263,NM_001244995,NM_001206790 TMPRSS13,TMPRSS13,TMPRSS13,TMPRSS13 EXON Missense_R273W,Missense_R308W,Missense_R308W,Missense_R308W exm959257 11 117784609 [T/C] NM_001206789,NM_001077263,NM_001244995,NM_001206790 TMPRSS13,TMPRSS13,TMPRSS13,TMPRSS13 EXON Nonsense_W196X,Nonsense_W231X,Nonsense_W231X,Nonsense_W231X exm1696247 11 117785108 [A/G] NM_001206789,NM_001077263,NM_001244995,NM_001206790 TMPRSS13,TMPRSS13,TMPRSS13,TMPRSS13 EXON Synonymous_C191C,Synonymous_C226C,Synonymous_C226C,Synonymous_C226C exm959265 11 117787893 [A/G] NM_001206789,NM_001077263,NM_001244995,NM_001206790 TMPRSS13,TMPRSS13,TMPRSS13,TMPRSS13 EXON Silent,Missense_I183T,Missense_I183T,Missense_I183T exm959268 11 117787974 [T/A] NM_001206789,NM_001077263,NM_001244995,NM_001206790 TMPRSS13,TMPRSS13,TMPRSS13,TMPRSS13 EXON Silent,Missense_K156M,Missense_K156M,Missense_K156M exm959271 11 117789243 [A/G] NM_001206789,NM_001077263,NM_001244995,NM_001206790 TMPRSS13,TMPRSS13,TMPRSS13,TMPRSS13 EXON Missense_S111L,Missense_S111L,Missense_S111L,Missense_S111L exm959274 11 117789271 [T/C] NM_001206789,NM_001077263,NM_001244995,NM_001206790 TMPRSS13,TMPRSS13,TMPRSS13,TMPRSS13 EXON Missense_G102S,Missense_G102S,Missense_G102S,Missense_G102S exm959279 11 117789303 [A/G] NM_001206789,NM_001077263,NM_001244995,NM_001206790 TMPRSS13,TMPRSS13,TMPRSS13,TMPRSS13 EXON Missense_P91L,Missense_P91L,Missense_P91L,Missense_P91L exm959283 11 117789318 [A/G] NM_001206789,NM_001077263,NM_001244995,NM_001206790 TMPRSS13,TMPRSS13,TMPRSS13,TMPRSS13 EXON Missense_P86L,Missense_P86L,Missense_P86L,Missense_P86L exm959312 11 117789549 [A/G] NM_001206789,NM_001077263,NM_001244995,NM_001206790 TMPRSS13,TMPRSS13,TMPRSS13,TMPRSS13 EXON Missense_A9V,Missense_A9V,Missense_A9V,Missense_A9V exm959334 11 117859104 [T/G] NR_026691,NM_001558 IL10RA,IL10RA EXON Silent,Missense_E25D exm959336 11 117859165 [A/G] NR_026691,NM_001558 IL10RA,IL10RA EXON Silent,Missense_T46A exm959338 11 117859199 [A/G] NR_026691,NM_001558 IL10RA,IL10RA EXON Silent,Missense_Y57C exm959349 11 117860288 [A/G] NR_026691,NM_001558 IL10RA,IL10RA EXON Silent,Missense_R107Q exm959350 11 117860305 [A/G] NR_026691,NM_001558 IL10RA,IL10RA EXON Silent,Missense_V113I exm959356 11 117863995 [A/G] NR_026691,NM_001558 IL10RA,IL10RA EXON Silent,Missense_N136S exm959360 11 117864063 [A/G] NR_026691,NM_001558 IL10RA,IL10RA EXON Silent,Missense_S159G exm959370 11 117864846 [A/G] NR_026691,NM_001558 IL10RA,IL10RA EXON Silent,Missense_I224V exm959376 11 117866312 [A/G] NR_026691,NM_001558 IL10RA,IL10RA EXON Silent,Missense_V233M exm959377 11 117866313 [T/G] NR_026691,NM_001558 IL10RA,IL10RA EXON Silent,Missense_V233G exm959378 11 117866321 [A/G] NR_026691,NM_001558 IL10RA,IL10RA EXON Silent,Missense_V236I exm959379 11 117866327 [A/G] NR_026691,NM_001558 IL10RA,IL10RA EXON Silent,Missense_I238V exm959385 11 117866403 [A/G] NR_026691,NM_001558 IL10RA,IL10RA EXON Silent,Missense_R263Q exm959391 11 117869502 [T/C] NR_026691,NM_001558 IL10RA,IL10RA EXON Silent,Missense_P295S exm959392 11 117869503 [T/C] NR_026691,NM_001558 IL10RA,IL10RA EXON Silent,Missense_P295L exm959403 11 117869670 [A/G] NR_026691,NM_001558 IL10RA,IL10RA EXON Silent,Missense_R351G exm959406 11 117869691 [A/G] NR_026691,NM_001558 IL10RA,IL10RA EXON Silent,Missense_D358N exm959416 11 117869853 [T/C] NR_026691,NM_001558 IL10RA,IL10RA EXON Silent,Missense_R412W exm959417 11 117869854 [A/G] NR_026691,NM_001558 IL10RA,IL10RA EXON Silent,Missense_R412Q exm959418 11 117869878 [T/C] NR_026691,NM_001558 IL10RA,IL10RA EXON Silent,Missense_S420L exm1696288 11 117869892 [A/C] NR_026691,NM_001558 IL10RA,IL10RA EXON Silent,Missense_H425N exm1696289 11 117869979 [A/G] NR_026691,NM_001558 IL10RA,IL10RA EXON Silent,Missense_E454K exm959438 11 117965530 [A/G] NM_019894,NM_001173552,NM_001173551,NM_001083947 TMPRSS4,TMPRSS4,TMPRSS4,TMPRSS4 Silent,Silent,Silent,Silent exm959449 11 117969787 [T/C] NM_019894,NM_001173552,NM_001173551,NM_001083947 TMPRSS4,TMPRSS4,TMPRSS4,TMPRSS4 EXON Missense_A44V,Silent,Missense_A42V,Missense_A44V exm959454 11 117973831 [A/G] NM_019894,NM_001173552,NM_001173551,NM_001083947 TMPRSS4,TMPRSS4,TMPRSS4,TMPRSS4 EXON Missense_D58G,Missense_D18G,Missense_D56G,Missense_D58G exm959462 11 117975409 [A/G] NM_019894,NM_001173552,NM_001173551,NM_001083947 TMPRSS4,TMPRSS4,TMPRSS4,TMPRSS4 EXON Missense_R105H,Missense_R65H,Missense_R103H,Missense_R105H exm959467 11 117975480 [A/G] NM_019894,NM_001173552,NM_001173551,NM_001083947 TMPRSS4,TMPRSS4,TMPRSS4,TMPRSS4 EXON Missense_D129N,Missense_D89N,Missense_D127N,Missense_D129N exm959472 11 117978578 [A/G] NM_019894,NM_001173552,NM_001173551,NM_001083947 TMPRSS4,TMPRSS4,TMPRSS4,TMPRSS4 EXON Missense_R177Q,Missense_R137Q,Missense_R175Q,Missense_R172Q exm959481 11 117979606 [G/C] NM_019894,NM_001173552,NM_001173551,NM_001083947 TMPRSS4,TMPRSS4,TMPRSS4,TMPRSS4 EXON Missense_C193S,Missense_C153S,Missense_C191S,Missense_C188S exm959484 11 117982495 [T/G] NM_019894,NM_001173552,NM_001173551,NM_001083947 TMPRSS4,TMPRSS4,TMPRSS4,TMPRSS4 EXON Missense_V208G,Missense_V168G,Missense_V206G,Missense_V203G exm959492 11 117984015 [T/C] NM_019894,NM_001173552,NM_001173551,NM_001083947 TMPRSS4,TMPRSS4,TMPRSS4,TMPRSS4 EXON Missense_R259W,Missense_R219W,Missense_R257W,Missense_R254W exm959493 11 117984019 [T/C] NM_019894,NM_001173552,NM_001173551,NM_001083947 TMPRSS4,TMPRSS4,TMPRSS4,TMPRSS4 EXON Missense_A260V,Missense_A220V,Missense_A258V,Missense_A255V exm959500 11 117985628 [T/C] NM_019894,NM_001173552,NM_001173551,NM_001083947 TMPRSS4,TMPRSS4,TMPRSS4,TMPRSS4 EXON Missense_T332M,Missense_T292M,Missense_T330M,Missense_T327M exm959502 11 117985851 [A/G] NM_019894,NM_001173552,NM_001173551,NM_001083947 TMPRSS4,TMPRSS4,TMPRSS4,TMPRSS4 Silent,Silent,Silent,Silent exm959509 11 117988105 [T/C] NM_019894,NM_001173552,NM_001173551,NM_001083947 TMPRSS4,TMPRSS4,TMPRSS4,TMPRSS4 EXON Missense_P413L,Missense_P373L,Missense_P411L,Missense_P408L exm959523 11 118007822 [T/C] NM_001142348,NR_024527,NM_174934,NM_001142349 SCN4B,SCN4B,SCN4B,SCN4B EXON Missense_V69M,Silent,Missense_V203M,Missense_V93M exm959526 11 118011973 [A/G] NM_001142348,NR_024527,NM_174934,NM_001142349 SCN4B,SCN4B,SCN4B,SCN4B EXON Missense_L47P,Silent,Missense_L181P,Missense_L71P exm959528 11 118012010 [T/C] NM_001142348,NR_024527,NM_174934,NM_001142349 SCN4B,SCN4B,SCN4B,SCN4B EXON Missense_V35I,Silent,Missense_V169I,Missense_V59I exm959544 11 118015812 [A/T] NM_001142348,NR_024527,NM_174934,NM_001142349 SCN4B,SCN4B,SCN4B,SCN4B EXON Silent,Silent,Missense_H65L,Silent exm1696339 11 118023367 [T/C] NM_001142348,NM_174934 SCN4B,SCN4B EXON Missense_G8S,Missense_G8S exm959552 11 118023371 [T/G] NM_001142348,NM_174934 SCN4B,SCN4B EXON Missense_D6E,Missense_D6E exm959555 11 118037610 [T/C] NM_004588 SCN2B EXON Missense_A214T exm959558 11 118037624 [T/G] NM_004588 SCN2B EXON Missense_N209T exm959559 11 118037625 [T/G] NM_004588 SCN2B EXON Missense_N209H exm959566 11 118037748 [A/C] NM_004588 SCN2B EXON Missense_G168C exm2259703 11 118038741 [T/C] NM_004588 SCN2B Silent exm959589 11 118065081 [T/C] NM_153206,NM_001098526 AMICA1,AMICA1 EXON Missense_K372E,Missense_K382E exm959593 11 118067494 [T/C] NM_153206,NM_001098526 AMICA1,AMICA1 EXON Missense_E340K,Missense_E350K exm959602 11 118068752 [T/C] NM_153206,NM_001098526 AMICA1,AMICA1 EXON Missense_I312M,Missense_I322M exm959604 11 118068770 [C/G] NM_153206,NM_001098526 AMICA1,AMICA1 EXON Missense_K306N,Missense_K316N exm2249596 11 118070264 [A/G] NM_153206,NM_001098526 AMICA1,AMICA1 Silent,Silent exm959622 11 118074274 [T/C] NM_153206,NM_001098526 AMICA1,AMICA1 EXON Missense_R204H,Missense_R214H exm959625 11 118074309 [T/G] NM_153206,NM_001098526 AMICA1,AMICA1 EXON Missense_F192L,Missense_F202L exm959627 11 118074337 [A/G] NM_153206,NM_001098526 AMICA1,AMICA1 EXON Missense_V183A,Missense_V193A exm959630 11 118076605 [A/G] NM_153206,NM_001098526 AMICA1,AMICA1 EXON Missense_R166C,Missense_R176C exm959636 11 118081270 [T/C] NM_153206,NM_001098526 AMICA1,AMICA1 EXON Missense_R109H,Missense_R119H exm959641 11 118081333 [T/C] NM_153206,NM_001098526 AMICA1,AMICA1 EXON Missense_D88G,Missense_D98G exm959643 11 118081345 [T/A] NM_153206,NM_001098526 AMICA1,AMICA1 EXON Missense_I84N,Missense_I94N exm959645 11 118081400 [T/C] NM_153206,NM_001098526 AMICA1,AMICA1 EXON Missense_N66D,Missense_N76D exm959650 11 118083136 [T/C] NM_153206,NM_001098526 AMICA1,AMICA1 EXON Missense_G52R,Missense_G62R exm959652 11 118083214 [A/C] NM_153206,NM_001098526 AMICA1,AMICA1 EXON Missense_D26Y,Missense_D36Y exm959667 11 118100634 [A/T] NM_198275 MPZL3 EXON Missense_D228V exm959675 11 118106242 [T/C] NM_198275 MPZL3 EXON Missense_V172M exm959677 11 118106253 [A/C] NM_198275 MPZL3 EXON Missense_V168G exm959679 11 118106293 [T/C] NM_198275 MPZL3 EXON Missense_M155V exm959680 11 118106298 [T/C] NM_198275 MPZL3 EXON Missense_G153D exm959683 11 118107852 [T/C] NM_198275 MPZL3 EXON Missense_D122N exm959684 11 118107910 [T/C] NM_198275 MPZL3 EXON Nonsense_W102X exm959687 11 118110954 [T/C] NM_198275 MPZL3 EXON Missense_R71H exm959690 11 118111032 [C/G] NM_198275 MPZL3 EXON Missense_G45A exm959702 11 118128018 [T/C] NM_005797,NM_144765 MPZL2,MPZL2 EXON Missense_E199K,Missense_E199K exm959704 11 118130808 [T/C] NM_005797,NM_144765 MPZL2,MPZL2 EXON Missense_R182Q,Missense_R182Q exm959705 11 118130809 [A/G] NM_005797,NM_144765 MPZL2,MPZL2 EXON Nonsense_R182X,Nonsense_R182X exm959708 11 118130913 [T/C] NM_005797,NM_144765 MPZL2,MPZL2 EXON Missense_R147H,Missense_R147H exm959711 11 118133165 [T/C] NM_005797,NM_144765 MPZL2,MPZL2 EXON Missense_V142I,Missense_V142I exm1696394 11 118133173 [T/C] NM_005797,NM_144765 MPZL2,MPZL2 EXON Missense_R139Q,Missense_R139Q exm959714 11 118133237 [T/G] NM_005797,NM_144765 MPZL2,MPZL2 EXON Missense_N118H,Missense_N118H exm959718 11 118133306 [T/C] NM_005797,NM_144765 MPZL2,MPZL2 EXON Missense_V95M,Missense_V95M exm959719 11 118133311 [T/A] NM_005797,NM_144765 MPZL2,MPZL2 EXON Missense_D93V,Missense_D93V exm1696401 11 118133651 [A/G] NM_005797,NM_144765 MPZL2,MPZL2 EXON Nonsense_Q74X,Nonsense_Q74X exm959730 11 118133740 [T/C] NM_005797,NM_144765 MPZL2,MPZL2 EXON Missense_R44Q,Missense_R44Q exm2218041 11 118133741 [A/G] NM_005797,NM_144765 MPZL2,MPZL2 EXON Missense_R44W,Missense_R44W exm-rs17122021 11 118145686 [T/C] exm959758 11 118182885 [T/C] NM_000733 CD3E EXON Missense_P35S exm959764 11 118183440 [G/C] NM_000733 CD3E EXON Missense_D71H exm959766 11 118183458 [A/G] NM_000733 CD3E EXON Missense_S77G exm959781 11 118184539 [T/C] NM_000733 CD3E EXON Missense_A157V exm959814 11 118211162 [A/G] NM_001040651,NM_000732 CD3D,CD3D EXON Nonsense_R68X,Nonsense_R68X exm959817 11 118211212 [A/G] NM_001040651,NM_000732 CD3D,CD3D EXON Missense_L51P,Missense_L51P exm959820 11 118213271 [T/G] NM_001040651,NM_000732 CD3D,CD3D EXON Missense_Q18K,Missense_Q18K exm959831 11 118215171 [C/G] NM_000073 CD3G EXON Missense_I11M exm959835 11 118219742 [A/G] NM_000073 CD3G EXON Missense_G19D exm959836 11 118219750 [A/G] NM_000073 CD3G EXON Missense_A22T exm959840 11 118220536 [T/C] NM_000073 CD3G EXON Missense_I53T exm959847 11 118221350 [T/G] NM_000073 CD3G EXON Missense_V131F exm959851 11 118223146 [T/C] NM_000073 CD3G EXON Missense_Y171H exm959855 11 118235854 [C/G] NM_001204077,NM_004788 UBE4A,UBE4A EXON Missense_G20A,Missense_G20A exm1696470 11 118243401 [C/G] NM_001204077,NM_004788 UBE4A,UBE4A EXON Silent,Missense_I247M exm959882 11 118243912 [C/G] NM_001204077,NM_004788 UBE4A,UBE4A EXON Missense_G278A,Missense_G285A exm959890 11 118244239 [G/C] NM_001204077,NM_004788 UBE4A,UBE4A EXON Missense_P319A,Missense_P326A exm959892 11 118244291 [T/C] NM_001204077,NM_004788 UBE4A,UBE4A EXON Missense_I336T,Missense_I343T exm959900 11 118245918 [A/G] NM_001204077,NM_004788 UBE4A,UBE4A EXON Missense_R475Q,Missense_R482Q exm1696486 11 118250256 [A/G] NM_001204077,NM_004788 UBE4A,UBE4A EXON Missense_N556S,Missense_N563S exm959907 11 118250258 [T/C] NM_001204077,NM_004788 UBE4A,UBE4A EXON Missense_L557F,Missense_L564F exm959914 11 118250436 [A/G] NM_001204077,NM_004788 UBE4A,UBE4A EXON Missense_D616G,Missense_D623G exm959937 11 118257193 [A/G] NM_001204077,NM_004788,NR_046370,NR_046369 UBE4A,UBE4A,LOC100131626,LOC100131626 EXON Missense_R818Q,Missense_R825Q,Silent,Silent exm2249597 11 118261438 [A/G] NM_001204077,NM_004788,NR_046370,NR_046369 UBE4A,UBE4A,LOC100131626,LOC100131626 EXON Synonymous_A945A,Synonymous_A952A,Silent,Silent exm959953 11 118267079 [A/G] NM_001204077,NM_004788,NR_046370,NR_046369 UBE4A,UBE4A,LOC100131626,LOC100131626 EXON Missense_R1042Q,Missense_R1049Q,Silent,Silent exm959992 11 118342617 [A/G] NM_005933,NM_001197104 MLL,MLL EXON Missense_N248S,Missense_N248S exm960005 11 118343378 [A/G] NM_005933,NM_001197104 MLL,MLL EXON Missense_E502K,Missense_E502K exm960006 11 118343393 [T/C] NM_005933,NM_001197104 MLL,MLL EXON Missense_P507S,Missense_P507S exm960011 11 118343684 [A/G] NM_005933,NM_001197104 MLL,MLL EXON Missense_M604V,Missense_M604V exm960035 11 118344558 [A/G] NM_005933,NM_001197104 MLL,MLL EXON Missense_K895R,Missense_K895R exm960038 11 118344600 [A/G] NM_005933,NM_001197104 MLL,MLL EXON Missense_G909D,Missense_G909D exm960045 11 118344839 [T/C] NM_005933,NM_001197104 MLL,MLL EXON Missense_L989F,Missense_L989F exm960080 11 118352769 [A/G] NM_005933,NM_001197104 MLL,MLL EXON Missense_S1325N,Missense_S1325N exm960088 11 118359365 [A/G] NM_005933,NM_001197104 MLL,MLL EXON Missense_K1457E,Missense_K1457E exm960142 11 118370551 [T/G] NM_005933,NM_001197104 MLL,MLL EXON Synonymous_G2024G,Synonymous_G2027G exm960159 11 118373179 [A/G] NM_005933,NM_001197104 MLL,MLL EXON Missense_R2188Q,Missense_R2191Q exm960160 11 118373226 [T/C] NM_005933,NM_001197104 MLL,MLL EXON Missense_R2204W,Missense_R2207W exm960165 11 118373305 [T/C] NM_005933,NM_001197104 MLL,MLL EXON Missense_T2230I,Missense_T2233I exm960175 11 118373677 [C/G] NM_005933,NM_001197104 MLL,MLL EXON Missense_P2354R,Missense_P2357R exm960179 11 118373790 [T/C] NM_005933,NM_001197104 MLL,MLL EXON Missense_S2392P,Missense_S2395P exm960183 11 118373914 [A/G] NM_005933,NM_001197104 MLL,MLL EXON Missense_C2433Y,Missense_C2436Y exm960199 11 118374590 [C/G] NM_005933,NM_001197104 MLL,MLL EXON Missense_K2658N,Missense_K2661N exm960224 11 118375572 [A/G] NM_005933,NM_001197104 MLL,MLL EXON Missense_E2986K,Missense_E2989K exm960234 11 118375950 [T/C] NM_005933,NM_001197104 MLL,MLL EXON Missense_P3112S,Missense_P3115S exm1696606 11 118375998 [A/G] NM_005933,NM_001197104 MLL,MLL EXON Missense_G3128S,Missense_G3131S exm960239 11 118376007 [T/C] NM_005933,NM_001197104 MLL,MLL EXON Missense_L3131F,Missense_L3134F exm960255 11 118376554 [T/C] NM_005933,NM_001197104 MLL,MLL EXON Missense_A3313V,Missense_A3316V exm960261 11 118376694 [A/G] NM_005933,NM_001197104 MLL,MLL EXON Missense_G3360R,Missense_G3363R exm960272 11 118376881 [T/C] NM_005933,NM_001197104 MLL,MLL EXON Missense_A3422V,Missense_A3425V exm960275 11 118376925 [A/G] NM_005933,NM_001197104 MLL,MLL EXON Missense_I3437V,Missense_I3440V exm960276 11 118376934 [A/G] NM_005933,NM_001197104 MLL,MLL EXON Missense_A3440T,Missense_A3443T exm960280 11 118377003 [A/G] NM_005933,NM_001197104 MLL,MLL EXON Missense_T3463A,Missense_T3466A exm960285 11 118377082 [T/C] NM_005933,NM_001197104 MLL,MLL EXON Missense_A3489V,Missense_A3492V exm960287 11 118377154 [A/G] NM_005933,NM_001197104 MLL,MLL EXON Missense_G3513E,Missense_G3516E exm960295 11 118377322 [T/G] NM_005933,NM_001197104 MLL,MLL EXON Missense_I3569S,Missense_I3572S exm960300 11 118378321 [T/C] NM_005933,NM_001197104 MLL,MLL EXON Missense_A3608V,Missense_A3611V exm960307 11 118380768 [A/G] NM_005933,NM_001197104 MLL,MLL EXON Missense_K3666R,Missense_K3669R exm960324 11 118392082 [A/G] NM_005933,NM_001197104 MLL,MLL EXON Missense_V3862I,Missense_V3865I exm960335 11 118399344 [G/C] NM_001080441 TTC36 EXON Missense_E49Q exm960337 11 118399392 [A/G] NM_001080441 TTC36 EXON Missense_G65R exm960340 11 118399471 [A/G] NM_001080441 TTC36 EXON Missense_R91H exm960351 11 118402869 [C/G] NM_001144035,NM_001144034,NM_001144037,NM_032780,NM_001144038,NM_001144036 TMEM25,TMEM25,TMEM25,TMEM25,TMEM25,TMEM25 EXON Missense_W25C,Missense_W25C,Missense_W25C,Missense_W25C,Missense_W25C,Silent exm2249598 11 118402962 [T/G] NM_001144035,NM_001144034,NM_001144037,NM_032780,NM_001144038,NM_001144036 TMEM25,TMEM25,TMEM25,TMEM25,TMEM25,TMEM25 EXON Synonymous_G56G,Synonymous_G56G,Synonymous_G56G,Synonymous_G56G,Synonymous_G56G,Silent exm960357 11 118403069 [T/G] NM_001144035,NM_001144034,NM_001144037,NM_032780,NM_001144038,NM_001144036 TMEM25,TMEM25,TMEM25,TMEM25,TMEM25,TMEM25 EXON Missense_S92I,Missense_S92I,Missense_S92I,Missense_S92I,Missense_S92I,Silent exm960358 11 118403072 [T/C] NM_001144035,NM_001144034,NM_001144037,NM_032780,NM_001144038,NM_001144036 TMEM25,TMEM25,TMEM25,TMEM25,TMEM25,TMEM25 EXON Missense_T93I,Missense_T93I,Missense_T93I,Missense_T93I,Missense_T93I,Silent exm1696643 11 118403682 [G/C] NM_001144035,NM_001144034,NM_001144037,NM_032780,NM_001144038,NM_001144036 TMEM25,TMEM25,TMEM25,TMEM25,TMEM25,TMEM25 EXON Missense_P145A,Missense_P145A,Missense_P145A,Missense_P145A,Missense_P145A,Missense_P41A exm1696644 11 118403745 [A/G] NM_001144035,NM_001144034,NM_001144037,NM_032780,NM_001144038,NM_001144036 TMEM25,TMEM25,TMEM25,TMEM25,TMEM25,TMEM25 EXON Missense_I166V,Missense_I166V,Missense_I166V,Missense_I166V,Missense_I166V,Missense_I62V exm960379 11 118403748 [A/G] NM_001144035,NM_001144034,NM_001144037,NM_032780,NM_001144038,NM_001144036 TMEM25,TMEM25,TMEM25,TMEM25,TMEM25,TMEM25 EXON Missense_D167N,Missense_D167N,Missense_D167N,Missense_D167N,Missense_D167N,Missense_D63N exm960393 11 118404150 [A/G] NM_001144035,NM_001144034,NM_001144037,NM_032780,NM_001144038,NM_001144036 TMEM25,TMEM25,TMEM25,TMEM25,TMEM25,TMEM25 EXON Silent,Silent,Missense_R230Q,Missense_R230Q,Silent,Silent exm960401 11 118404784 [T/C] NM_001144035,NM_001144034,NM_001144037,NM_032780,NM_001144038,NM_001144036 TMEM25,TMEM25,TMEM25,TMEM25,TMEM25,TMEM25 EXON Missense_R249W,Missense_R249W,Missense_R293W,Missense_R293W,Missense_R249W,Missense_R145W exm960404 11 118404998 [T/C] NM_001144035,NM_001144034,NM_001144037,NM_032780,NM_001144038,NM_001144036 TMEM25,TMEM25,TMEM25,TMEM25,TMEM25,TMEM25 EXON Missense_R275W,Missense_R275W,Missense_R319W,Missense_R319W,Missense_R274W,Missense_R171W exm960412 11 118405249 [T/A] NM_001144035,NM_001144034,NM_001144037,NM_032780,NM_001144038,NM_001144036 TMEM25,TMEM25,TMEM25,TMEM25,TMEM25,TMEM25 EXON Missense_Y308F,Missense_Y308F,Silent,Missense_Y352F,Silent,Missense_Y204F exm960430 11 118416179 [T/C] NM_001144037,NM_001144038,NM_020153,NM_001168618 TMEM25,TMEM25,IFT46,IFT46 EXON Silent,Silent,Missense_R306Q,Missense_R255Q exm960434 11 118416555 [A/G] NM_001144037,NM_001144038,NM_020153,NM_001168618 TMEM25,TMEM25,IFT46,IFT46 EXON Silent,Silent,Missense_T280M,Missense_T229M exm960442 11 118422526 [A/G] NM_020153,NM_001168618 IFT46,IFT46 EXON Missense_P267L,Missense_P216L exm960444 11 118422529 [T/G] NM_020153,NM_001168618 IFT46,IFT46 EXON Missense_S266Y,Missense_S215Y exm960447 11 118422566 [A/G] NM_020153,NM_001168618 IFT46,IFT46 EXON Missense_P254S,Missense_P203S exm960458 11 118425758 [C/G] NM_020153,NM_001168618 IFT46,IFT46 EXON Missense_P152A,Missense_P101A exm960460 11 118425790 [A/G] NM_020153,NM_001168618 IFT46,IFT46 EXON Missense_P141L,Missense_P90L exm960462 11 118425966 [T/C] NM_020153,NM_001168618 IFT46,IFT46 EXON Missense_S137N,Missense_S86N exm960474 11 118427727 [A/G] NM_020153,NM_001168618 IFT46,IFT46 EXON Missense_R78W,Missense_R27W exm960479 11 118428463 [T/C] NM_020153,NM_001168618 IFT46,IFT46 EXON Missense_K63R,Silent exm960482 11 118430519 [T/C] NM_020153,NM_001168618 IFT46,IFT46 EXON Missense_C9Y,Missense_C9Y exm960491 11 118451973 [T/G] NM_001655,NM_001142281 ARCN1,ARCN1 EXON Missense_A6S,Silent exm960510 11 118455293 [T/C] NM_001655,NM_001142281 ARCN1,ARCN1 EXON Missense_S251F,Missense_S163F exm2274534 11 118455310 [A/C] NM_001655,NM_001142281 ARCN1,ARCN1 EXON Missense_R257S,Missense_R169S exm960512 11 118455311 [A/G] NM_001655,NM_001142281 ARCN1,ARCN1 EXON Missense_R257H,Missense_R169H exm960517 11 118461172 [A/G] NM_001655,NM_001142281 ARCN1,ARCN1 EXON Missense_R312Q,Missense_R224Q exm960534 11 118468481 [A/G] NM_001655,NM_001142281 ARCN1,ARCN1 EXON Missense_R434Q,Missense_R346Q exm-rs498872 11 118477367 [A/G] NM_015157 PHLDB1 EXON Silent exm-rs11603023 11 118486067 [T/C] NM_015157,NM_001144758,NM_001144759 PHLDB1,PHLDB1,PHLDB1 Silent,Silent,Silent exm2218055 11 118486833 [A/G] NM_015157,NM_001144758,NM_001144759 PHLDB1,PHLDB1,PHLDB1 EXON Missense_E88K,Missense_E88K,Missense_E88K exm960591 11 118498387 [T/C] NM_015157,NM_001144758,NM_001144759 PHLDB1,PHLDB1,PHLDB1 EXON Missense_P283L,Missense_P283L,Missense_P283L exm960601 11 118498524 [A/G] NM_015157,NM_001144758,NM_001144759 PHLDB1,PHLDB1,PHLDB1 EXON Missense_G329S,Missense_G329S,Missense_G329S exm960608 11 118498714 [A/G] NM_015157,NM_001144758,NM_001144759 PHLDB1,PHLDB1,PHLDB1 EXON Missense_R392Q,Missense_R392Q,Missense_R392Q exm960609 11 118498729 [G/C] NM_015157,NM_001144758,NM_001144759 PHLDB1,PHLDB1,PHLDB1 EXON Missense_T397R,Missense_T397R,Missense_T397R exm960610 11 118498780 [A/G] NM_015157,NM_001144758,NM_001144759 PHLDB1,PHLDB1,PHLDB1 EXON Missense_R414Q,Missense_R414Q,Missense_R414Q exm960611 11 118498804 [A/G] NM_015157,NM_001144758,NM_001144759 PHLDB1,PHLDB1,PHLDB1 EXON Missense_R422H,Missense_R422H,Missense_R422H exm960615 11 118498882 [A/G] NM_015157,NM_001144758,NM_001144759 PHLDB1,PHLDB1,PHLDB1 EXON Missense_R448Q,Missense_R448Q,Missense_R448Q exm960616 11 118498884 [T/C] NM_015157,NM_001144758,NM_001144759 PHLDB1,PHLDB1,PHLDB1 EXON Missense_R449W,Missense_R449W,Missense_R449W exm960620 11 118498936 [A/G] NM_015157,NM_001144758,NM_001144759 PHLDB1,PHLDB1,PHLDB1 EXON Missense_R466Q,Missense_R466Q,Missense_R466Q exm960622 11 118498945 [T/C] NM_015157,NM_001144758,NM_001144759 PHLDB1,PHLDB1,PHLDB1 EXON Missense_L469P,Missense_L469P,Missense_L469P exm960623 11 118498951 [T/C] NM_015157,NM_001144758,NM_001144759 PHLDB1,PHLDB1,PHLDB1 EXON Missense_P471L,Missense_P471L,Missense_P471L exm960625 11 118498969 [T/C] NM_015157,NM_001144758,NM_001144759 PHLDB1,PHLDB1,PHLDB1 EXON Missense_T477I,Missense_T477I,Missense_T477I exm2218057 11 118498981 [A/G] NM_015157,NM_001144758,NM_001144759 PHLDB1,PHLDB1,PHLDB1 EXON Missense_K481R,Missense_K481R,Missense_K481R exm960654 11 118502084 [A/G] NM_015157,NM_001144758,NM_001144759 PHLDB1,PHLDB1,PHLDB1 EXON Missense_R663Q,Missense_R663Q,Missense_R663Q exm960658 11 118502116 [T/C] NM_015157,NM_001144758,NM_001144759 PHLDB1,PHLDB1,PHLDB1 EXON Missense_R674C,Missense_R674C,Missense_R674C exm960663 11 118502670 [T/C] NM_015157,NM_001144758,NM_001144759 PHLDB1,PHLDB1,PHLDB1 EXON Missense_L714P,Missense_L714P,Missense_L714P exm960665 11 118502688 [A/G] NM_015157,NM_001144758,NM_001144759 PHLDB1,PHLDB1,PHLDB1 EXON Missense_R720Q,Missense_R720Q,Missense_R720Q exm960666 11 118502708 [A/G] NM_015157,NM_001144758,NM_001144759 PHLDB1,PHLDB1,PHLDB1 EXON Missense_V727M,Missense_V727M,Missense_V727M exm960669 11 118502948 [A/G] NM_015157,NM_001144758,NM_001144759 PHLDB1,PHLDB1,PHLDB1 EXON Missense_A772T,Missense_A772T,Missense_A772T exm2249599 11 118506209 [T/C] NM_015157,NM_001144758,NM_001144759 PHLDB1,PHLDB1,PHLDB1 EXON Synonymous_A826A,Synonymous_A826A,Synonymous_A826A exm2249600 11 118509659 [T/C] NM_015157,NM_001144758,NM_001144759 PHLDB1,PHLDB1,PHLDB1 EXON Synonymous_A862A,Synonymous_A862A,Synonymous_A862A exm1696738 11 118509675 [T/C] NM_015157,NM_001144758,NM_001144759 PHLDB1,PHLDB1,PHLDB1 EXON Missense_R868C,Missense_R868C,Missense_R868C exm960685 11 118509676 [A/G] NM_015157,NM_001144758,NM_001144759 PHLDB1,PHLDB1,PHLDB1 EXON Missense_R868H,Missense_R868H,Missense_R868H exm960699 11 118513078 [T/C] NM_015157,NM_001144758,NM_001144759 PHLDB1,PHLDB1,PHLDB1 EXON Missense_P948L,Missense_P948L,Silent exm960712 11 118514830 [A/G] NM_015157,NM_001144758,NM_001144759 PHLDB1,PHLDB1,PHLDB1 EXON Missense_R1020H,Missense_R1020H,Missense_R973H exm960717 11 118516254 [A/G] NM_015157,NM_001144758,NM_001144759 PHLDB1,PHLDB1,PHLDB1 EXON Missense_R1101H,Missense_R1101H,Missense_R1054H exm960718 11 118516274 [A/G] NM_015157,NM_001144758,NM_001144759 PHLDB1,PHLDB1,PHLDB1 EXON Missense_A1108T,Missense_A1108T,Missense_A1061T exm960728 11 118516453 [T/C] NM_015157,NM_001144758,NM_001144759 PHLDB1,PHLDB1,PHLDB1 EXON Synonymous_S1139S,Synonymous_S1139S,Synonymous_S1092S exm960735 11 118516526 [T/C] NM_015157,NM_001144758,NM_001144759 PHLDB1,PHLDB1,PHLDB1 EXON Missense_R1164W,Missense_R1164W,Missense_R1117W exm960736 11 118516533 [A/T] NM_015157,NM_001144758,NM_001144759 PHLDB1,PHLDB1,PHLDB1 EXON Missense_M1166K,Missense_M1166K,Missense_M1119K exm2218059 11 118518665 [A/G] NM_015157,NM_001144758,NM_001144759 PHLDB1,PHLDB1,PHLDB1 EXON Missense_R1176Q,Missense_R1176Q,Missense_R1129Q exm960738 11 118518667 [T/C] NM_015157,NM_001144758,NM_001144759 PHLDB1,PHLDB1,PHLDB1 EXON Missense_R1177W,Missense_R1177W,Missense_R1130W exm960745 11 118518751 [A/G] NM_015157,NM_001144758,NM_001144759 PHLDB1,PHLDB1,PHLDB1 EXON Missense_V1205I,Missense_V1205I,Missense_V1158I exm960761 11 118526343 [T/C] NM_015157,NM_001144758,NM_001144759 PHLDB1,PHLDB1,PHLDB1 EXON Synonymous_V1301V,Synonymous_V1301V,Synonymous_V1254V exm2249601 11 118526343 [T/C] NM_015157,NM_001144758,NM_001144759 PHLDB1,PHLDB1,PHLDB1 EXON Synonymous_V1301V,Synonymous_V1301V,Synonymous_V1254V exm1696771 11 118526582 [T/C] NM_015157,NM_001144758,NM_001144759 PHLDB1,PHLDB1,PHLDB1 EXON Missense_R1325C,Missense_R1325C,Silent exm960766 11 118526583 [A/G] NM_015157,NM_001144758,NM_001144759 PHLDB1,PHLDB1,PHLDB1 EXON Missense_R1325H,Missense_R1325H,Silent exm960767 11 118526585 [T/C] NM_015157,NM_001144758,NM_001144759 PHLDB1,PHLDB1,PHLDB1 EXON Missense_F1326L,Missense_F1326L,Silent exm960770 11 118527420 [A/G] NM_015157,NM_001144758,NM_001144759 PHLDB1,PHLDB1,PHLDB1 EXON Missense_V1341I,Missense_V1341I,Missense_V1283I exm960773 11 118527475 [A/G] NM_015157,NM_001144758,NM_001144759 PHLDB1,PHLDB1,PHLDB1 EXON Missense_R1359H,Missense_R1359H,Missense_R1301H exm960775 11 118529017 [T/G] NM_007180 TREH EXON Missense_X578S exm960779 11 118529044 [G/C] NM_007180 TREH EXON Missense_G569A exm960782 11 118529054 [A/G] NM_007180 TREH EXON Missense_H566Y exm960784 11 118529069 [C/G] NM_007180 TREH EXON Missense_P561A exm960786 11 118529078 [C/G] NM_007180 TREH EXON Missense_P558A exm1696774 11 118529436 [T/C] NM_007180 TREH EXON Missense_V518I exm960799 11 118529634 [A/T] NM_007180 TREH EXON Nonsense_K509X exm960800 11 118529635 [A/C] NM_007180 TREH EXON Missense_Q508H exm960806 11 118529703 [A/G] NM_007180 TREH EXON Missense_R486W exm960812 11 118530166 [A/G] NM_007180 TREH EXON Missense_Y449H exm960830 11 118531335 [T/C] NM_007180 TREH EXON Missense_I339V exm960832 11 118531367 [A/G] NM_007180 TREH EXON Missense_I328T exm960837 11 118531437 [A/G] NM_007180 TREH EXON Missense_R305W exm960843 11 118531918 [T/C] NM_007180 TREH EXON Missense_G270R exm960847 11 118532112 [T/C] NM_007180 TREH EXON Missense_A242T exm960852 11 118532376 [A/G] NM_007180 TREH EXON Missense_M196T exm960859 11 118533594 [T/C] NM_007180 TREH EXON Missense_K140R exm960860 11 118533648 [A/G] NM_007180 TREH EXON Missense_A122V exm960863 11 118533834 [T/C] NM_007180 TREH EXON Missense_A88T exm960866 11 118533904 [T/C] NM_007180 TREH EXON Synonymous_E64E exm960870 11 118534113 [A/G] NM_007180 TREH EXON Missense_V42A exm-rs4639966 11 118573519 [T/C] exm-rs494459 11 118574675 [T/C] exm-rs10892279 11 118611781 [A/G] exm960885 11 118625446 [T/C] NM_001257191,NM_004397 DDX6,DDX6 EXON Missense_E476G,Missense_E476G exm2249603 11 118634011 [A/G] NM_001257191,NM_004397 DDX6,DDX6 EXON Synonymous_H217H,Synonymous_H217H exm960916 11 118656770 [T/G] NM_001257191,NM_004397 DDX6,DDX6 EXON Missense_T64N,Missense_T64N exm960917 11 118656777 [T/C] NM_001257191,NM_004397 DDX6,DDX6 EXON Missense_M62V,Missense_M62V exm-rs6421571 11 118743772 [T/C] exm2267230 11 118755738 [A/G] NM_001716 CXCR5 Silent exm960935 11 118764407 [A/G] NM_001716,NM_032966 CXCR5,CXCR5 EXON Missense_V52M,Missense_V7M exm960936 11 118764413 [T/G] NM_001716,NM_032966 CXCR5,CXCR5 EXON Missense_V54L,Missense_V9L exm960937 11 118764419 [A/G] NM_001716,NM_032966 CXCR5,CXCR5 EXON Missense_V56M,Missense_V11M exm960940 11 118764497 [A/C] NM_001716,NM_032966 CXCR5,CXCR5 EXON Missense_T82P,Missense_T37P exm960944 11 118764575 [A/G] NM_001716,NM_032966 CXCR5,CXCR5 EXON Missense_V108M,Missense_V63M exm960971 11 118765257 [A/G] NM_001716,NM_032966 CXCR5,CXCR5 EXON Missense_R335Q,Missense_R290Q exm1696887 11 118765320 [A/G] NM_001716,NM_032966 CXCR5,CXCR5 EXON Missense_R356H,Missense_R311H exm960987 11 118769303 [T/C] NM_182557 BCL9L EXON Missense_V1441M exm960998 11 118769550 [A/C] NM_182557 BCL9L EXON Missense_H1358Q exm961007 11 118769657 [T/C] NM_182557 BCL9L EXON Missense_E1323K exm2249604 11 118769751 [A/G] NM_182557 BCL9L EXON Synonymous_D1291D exm961047 11 118770871 [A/G] NM_182557 BCL9L EXON Missense_S1054L exm961056 11 118771528 [A/G] NM_182557 BCL9L EXON Missense_S975L exm961068 11 118771747 [A/G] NM_182557 BCL9L EXON Missense_V902A exm1696907 11 118771957 [A/G] NM_182557 BCL9L EXON Missense_P832L exm961082 11 118772018 [A/G] NM_182557 BCL9L EXON Missense_L812F exm961083 11 118772023 [T/G] NM_182557 BCL9L EXON Missense_Q810P exm961102 11 118772287 [A/G] NM_182557 BCL9L EXON Missense_M722T exm961105 11 118772357 [T/C] NM_182557 BCL9L EXON Missense_G699S exm961115 11 118772516 [T/C] NM_182557 BCL9L EXON Missense_M646V exm961116 11 118772555 [T/C] NM_182557 BCL9L EXON Missense_V633M exm961117 11 118772569 [G/C] NM_182557 BCL9L EXON Missense_A628G exm961127 11 118772825 [T/C] NM_182557 BCL9L EXON Missense_S543G exm961134 11 118772943 [C/G] NM_182557 BCL9L EXON Missense_M503I exm961138 11 118773050 [A/G] NM_182557 BCL9L EXON Missense_P468S exm1696917 11 118773140 [A/C] NM_182557 BCL9L EXON Missense_A438S exm961194 11 118779309 [T/C] NM_182557 BCL9L EXON Missense_G28S exm961207 11 118827082 [T/C] NM_006760 UPK2 EXON Missense_R8W exm1696952 11 118827661 [A/C] NM_006760 UPK2 EXON Missense_P49T exm2276214 11 118827665 [A/C] NM_006760 UPK2 EXON Missense_P50H exm961214 11 118827670 [A/C] NM_006760 UPK2 EXON Missense_H52N exm961216 11 118827703 [T/C] NM_006760 UPK2 EXON Missense_R63W exm961219 11 118827917 [A/G] NM_006760 UPK2 Silent exm961223 11 118827987 [A/G] NM_006760 UPK2 EXON Missense_G93D exm1696957 11 118828008 [A/G] NM_006760 UPK2 EXON Missense_R100Q exm961226 11 118828322 [T/C] NM_006760 UPK2 EXON Missense_V121A exm1696960 11 118828806 [T/G] NM_006760 UPK2 Silent exm961233 11 118828825 [T/C] NM_006760 UPK2 EXON Missense_I146T exm961234 11 118828842 [T/C] NM_006760 UPK2 EXON Missense_R152C exm961235 11 118828867 [T/C] NM_006760 UPK2 EXON Missense_T160M exm1696964 11 118842654 [T/C] NM_181721 FOXR1 EXON Missense_L5F exm961249 11 118849495 [C/G] NM_181721 FOXR1 EXON Missense_A22G exm961256 11 118849747 [T/C] NM_181721 FOXR1 EXON Missense_R73C exm961263 11 118849911 [G/C] NM_181721 FOXR1 EXON Missense_W127C exm961282 11 118851373 [T/C] NM_181721 FOXR1 EXON Missense_A262V exm961289 11 118868944 [A/G] NM_198489 CCDC84 EXON Missense_T13A exm961294 11 118869141 [T/G] NM_198489 CCDC84 EXON Missense_V41G exm961299 11 118869741 [T/C] NM_198489 CCDC84 EXON Missense_T102I exm961303 11 118881481 [A/G] NM_198489 CCDC84 EXON Missense_K131E exm1696989 11 118881509 [A/G] NM_198489 CCDC84 EXON Missense_Y140C exm2218069 11 118882667 [A/C] NM_198489 CCDC84 EXON Missense_P178T exm961314 11 118882863 [G/C] NM_198489 CCDC84 EXON Missense_V195L exm961337 11 118886136 [T/C] NM_198489 CCDC84 EXON Missense_R309C exm961418 11 118890930 [A/G] NM_016146 TRAPPC4 EXON Missense_T141A exm961430 11 118895624 [T/G] NM_001467,NM_001164278,NM_001164277,NM_001164280,NM_001164279 SLC37A4,SLC37A4,SLC37A4,SLC37A4,SLC37A4 EXON Missense_E429A,Missense_E451A,Missense_E429A,Missense_E429A,Missense_E356A exm961431 11 118895632 [T/C] NM_001467,NM_001164278,NM_001164277,NM_001164280,NM_001164279 SLC37A4,SLC37A4,SLC37A4,SLC37A4,SLC37A4 EXON Synonymous_K426K,Synonymous_K448K,Synonymous_K426K,Synonymous_K426K,Synonymous_K353K exm961432 11 118895635 [A/G] NM_001467,NM_001164278,NM_001164277,NM_001164280,NM_001164279 SLC37A4,SLC37A4,SLC37A4,SLC37A4,SLC37A4 EXON Synonymous_S425S,Synonymous_S447S,Synonymous_S425S,Synonymous_S425S,Synonymous_S352S exm961433 11 118895670 [A/G] NM_001467,NM_001164278,NM_001164277,NM_001164280,NM_001164279 SLC37A4,SLC37A4,SLC37A4,SLC37A4,SLC37A4 EXON Synonymous_L414L,Synonymous_L436L,Synonymous_L414L,Synonymous_L414L,Synonymous_L341L exm961434 11 118895686 [T/C] NM_001467,NM_001164278,NM_001164277,NM_001164280,NM_001164279 SLC37A4,SLC37A4,SLC37A4,SLC37A4,SLC37A4 EXON Synonymous_T408T,Synonymous_T430T,Synonymous_T408T,Synonymous_T408T,Synonymous_T335T exm961435 11 118895742 [A/G] NM_001467,NM_001164278,NM_001164277,NM_001164280,NM_001164279 SLC37A4,SLC37A4,SLC37A4,SLC37A4,SLC37A4 EXON Missense_H390Y,Missense_H412Y,Missense_H390Y,Missense_H390Y,Missense_H317Y exm961438 11 118895782 [A/G] NM_001467,NM_001164278,NM_001164277,NM_001164280,NM_001164279 SLC37A4,SLC37A4,SLC37A4,SLC37A4,SLC37A4 EXON Synonymous_G376G,Synonymous_G398G,Synonymous_G376G,Synonymous_G376G,Synonymous_G303G exm961440 11 118895962 [A/G] NM_001467,NM_001164278,NM_001164277,NM_001164280,NM_001164279 SLC37A4,SLC37A4,SLC37A4,SLC37A4,SLC37A4 EXON Synonymous_N354N,Synonymous_N376N,Synonymous_N354N,Synonymous_N354N,Synonymous_N281N exm961442 11 118896009 [A/C] NM_001467,NM_001164278,NM_001164277,NM_001164280,NM_001164279 SLC37A4,SLC37A4,SLC37A4,SLC37A4,SLC37A4 EXON Missense_G339C,Missense_G361C,Missense_G339C,Missense_G339C,Missense_G266C exm961443 11 118896012 [A/G] NM_001467,NM_001164278,NM_001164277,NM_001164280,NM_001164279 SLC37A4,SLC37A4,SLC37A4,SLC37A4,SLC37A4 EXON Missense_F338L,Missense_F360L,Missense_F338L,Missense_F338L,Missense_F265L exm961446 11 118896449 [G/C] NM_001467,NM_001164278,NM_001164277,NM_001164280,NM_001164279 SLC37A4,SLC37A4,SLC37A4,SLC37A4,SLC37A4 EXON Silent,Missense_L335V,Silent,Silent,Silent exm961454 11 118896731 [A/G] NM_001467,NM_001164278,NM_001164277,NM_001164280,NM_001164279 SLC37A4,SLC37A4,SLC37A4,SLC37A4,SLC37A4 EXON Synonymous_G310G,Synonymous_G310G,Synonymous_G310G,Synonymous_G310G,Synonymous_G237G exm961455 11 118896789 [A/G] NM_001467,NM_001164278,NM_001164277,NM_001164280,NM_001164279 SLC37A4,SLC37A4,SLC37A4,SLC37A4,SLC37A4 EXON Missense_A291V,Missense_A291V,Missense_A291V,Missense_A291V,Missense_A218V exm961466 11 118897803 [A/G] NM_001467,NM_001164278,NM_001164277,NM_001164280,NM_001164279 SLC37A4,SLC37A4,SLC37A4,SLC37A4,SLC37A4 EXON Missense_S210P,Missense_S210P,Missense_S210P,Missense_S210P,Missense_S137P exm961467 11 118898370 [T/A] NM_001467,NM_001164278,NM_001164277,NM_001164280,NM_001164279 SLC37A4,SLC37A4,SLC37A4,SLC37A4,SLC37A4 EXON Missense_N198I,Missense_N198I,Missense_N198I,Missense_N198I,Missense_N125I exm961491 11 118899135 [A/C] NM_001467,NM_001164278,NM_001164277,NM_001164280,NM_001164279 SLC37A4,SLC37A4,SLC37A4,SLC37A4,SLC37A4 EXON Synonymous_G50G,Synonymous_G50G,Synonymous_G50G,Synonymous_G50G,Silent exm961498 11 118916364 [A/G] NM_006389,NM_001130991 HYOU1,HYOU1 EXON Missense_P981S,Missense_P981S exm961509 11 118917355 [T/C] NM_006389,NM_001130991 HYOU1,HYOU1 EXON Missense_K919E,Missense_K919E exm961516 11 118917472 [T/C] NM_006389,NM_001130991 HYOU1,HYOU1 EXON Missense_A880T,Missense_A880T exm961520 11 118917496 [G/C] NM_006389,NM_001130991 HYOU1,HYOU1 EXON Missense_L872V,Missense_L872V exm961523 11 118918530 [A/C] NM_006389,NM_001130991 HYOU1,HYOU1 EXON Missense_K837N,Missense_K837N exm1697080 11 118919033 [T/C] NM_006389,NM_001130991 HYOU1,HYOU1 EXON Missense_R768H,Missense_R768H exm961553 11 118919528 [T/C] NM_006389,NM_001130991 HYOU1,HYOU1 EXON Missense_K688R,Missense_K688R exm961558 11 118919562 [T/C] NM_006389,NM_001130991 HYOU1,HYOU1 EXON Missense_V677I,Missense_V677I exm961565 11 118919900 [T/G] NM_006389,NM_001130991 HYOU1,HYOU1 EXON Missense_P608T,Missense_P608T exm961573 11 118920540 [T/C] NM_006389,NM_001130991 HYOU1,HYOU1 EXON Missense_V559I,Missense_V559I exm961587 11 118922560 [T/C] NM_006389,NM_001130991 HYOU1,HYOU1 EXON Missense_V437I,Missense_V437I exm961594 11 118922814 [T/C] NM_006389,NM_001130991 HYOU1,HYOU1 EXON Missense_K398R,Missense_K398R exm961608 11 118923503 [T/C] NM_006389,NM_001130991 HYOU1,HYOU1 EXON Missense_R278Q,Missense_R278Q exm1697118 11 118924855 [C/G] NM_006389,NM_001130991 HYOU1,HYOU1 EXON Missense_Q258E,Missense_Q258E exm961619 11 118924912 [T/C] NM_006389,NM_001130991 HYOU1,HYOU1 EXON Missense_V239I,Missense_V239I exm2249605 11 118925953 [T/C] NM_006389,NM_001130991 HYOU1,HYOU1 EXON Synonymous_P121P,Synonymous_P121P exm961639 11 118926036 [T/G] NM_006389,NM_001130991 HYOU1,HYOU1 EXON Missense_K94Q,Missense_K94Q exm961644 11 118926783 [A/G] NM_006389,NM_001130991 HYOU1,HYOU1 EXON Synonymous_S30S,Synonymous_S30S exm961646 11 118926818 [C/G] NM_006389,NM_001130991 HYOU1,HYOU1 EXON Missense_V19L,Missense_V19L exm961647 11 118926844 [A/G] NM_006389,NM_001130991 HYOU1,HYOU1 EXON Missense_P10L,Missense_P10L exm961649 11 118926853 [T/C] NM_006389,NM_001130991 HYOU1,HYOU1 EXON Missense_R7K,Missense_R7K exm961663 11 118940182 [A/G] NM_021729 VPS11 EXON Missense_M122I exm961665 11 118940957 [G/C] NM_021729 VPS11 EXON Missense_A162G exm961673 11 118942337 [A/G] NM_021729 VPS11 EXON Missense_A223T exm961674 11 118942344 [A/G] NM_021729 VPS11 EXON Missense_S225N exm961681 11 118944046 [T/C] NM_021729 VPS11 EXON Missense_T341M exm961687 11 118947634 [T/C] NM_021729 VPS11 EXON Missense_T422M exm961692 11 118947771 [T/C] NM_021729 VPS11 EXON Nonsense_R468X exm961696 11 118948607 [A/G] NM_021729 VPS11 EXON Missense_D531N exm961701 11 118948655 [A/G] NM_021729 VPS11 EXON Missense_A547T exm961708 11 118949277 [G/C] NM_021729 VPS11 EXON Nonsense_S642X exm961710 11 118949331 [T/C] NM_021729 VPS11 EXON Missense_A660V exm961711 11 118949334 [T/C] NM_021729 VPS11 EXON Missense_T661M exm961714 11 118949519 [T/C] NM_021729 VPS11 EXON Missense_C693R exm961716 11 118949538 [T/C] NM_021729 VPS11 EXON Missense_T699M exm961722 11 118949888 [A/G] NM_021729 VPS11 EXON Missense_G772E exm961735 11 118952173 [A/G] NM_021729 VPS11 EXON Missense_S889G exm961743 11 118955769 [A/C] NM_001258209,NM_001258208,NM_000190 HMBS,HMBS,HMBS EXON Silent,Missense_A9E,Missense_A9E exm961759 11 118959391 [T/C] NM_001258209,NM_001258208,NM_000190,NM_001024382 HMBS,HMBS,HMBS,HMBS EXON Missense_S28L,Missense_S45L,Missense_S45L,Missense_S28L exm961764 11 118959973 [T/A] NM_001258209,NM_001258208,NM_000190,NM_001024382 HMBS,HMBS,HMBS,HMBS EXON Missense_E69V,Missense_E86V,Missense_E86V,Missense_E69V exm961787 11 118963136 [A/G] NM_001258209,NM_001258208,NM_000190,NM_001024382 HMBS,HMBS,HMBS,HMBS EXON Silent,Silent,Missense_R225Q,Missense_R208Q exm961792 11 118963198 [T/C] NM_001258209,NM_001258208,NM_000190,NM_001024382 HMBS,HMBS,HMBS,HMBS EXON Silent,Silent,Missense_R246C,Missense_R229C exm961801 11 118963869 [A/G] NM_001258209,NM_001258208,NM_000190,NM_001024382 HMBS,HMBS,HMBS,HMBS EXON Missense_R264H,Missense_R281H,Missense_R321H,Missense_R304H exm961808 11 118963982 [A/G] NM_001258209,NM_001258208,NM_000190,NM_001024382 HMBS,HMBS,HMBS,HMBS EXON Missense_D302N,Missense_D319N,Missense_D359N,Missense_D342N exm961834 11 118967758 [T/C] NM_001382 DPAGT1 EXON Missense_I393V exm961842 11 118968185 [A/C] NM_001382 DPAGT1 EXON Missense_F332V exm961888 11 118978479 [T/G] NM_014807 C2CD2L EXON Missense_V10L exm961899 11 118978738 [A/G] NM_014807 C2CD2L EXON Missense_K96R exm961900 11 118978785 [A/G] NM_014807 C2CD2L EXON Missense_E112K exm2249606 11 118980843 [T/G] NM_014807 C2CD2L EXON Synonymous_V128V exm961914 11 118981350 [T/C] NM_014807 C2CD2L EXON Missense_M177T exm961915 11 118981364 [A/G] NM_014807 C2CD2L EXON Missense_V182I exm961916 11 118981382 [A/C] NM_014807 C2CD2L EXON Missense_P188T exm961925 11 118982033 [T/C] NM_014807 C2CD2L EXON Missense_R287W exm961934 11 118982296 [A/G] NM_014807 C2CD2L EXON Missense_A326T exm961935 11 118982297 [T/C] NM_014807 C2CD2L EXON Missense_A326V exm1697237 11 118983193 [T/C] NM_014807 C2CD2L EXON Synonymous_T362T exm961947 11 118983434 [T/C] NM_014807 C2CD2L EXON Missense_R413W exm961949 11 118983467 [T/C] NM_014807 C2CD2L EXON Missense_R424C exm961956 11 118984332 [T/C] NM_014807 C2CD2L EXON Missense_R467C exm961958 11 118984385 [C/G] NM_014807 C2CD2L EXON Missense_E484D exm1697246 11 118984422 [T/C] NM_014807 C2CD2L EXON Missense_P497S exm961964 11 118984649 [A/G] NM_014807 C2CD2L EXON Missense_K526R exm962001 11 118997800 [T/A] NM_015517,NM_001243259,NM_198971 HINFP,HINFP,HINFP EXON Missense_E49V,Missense_E49V,Missense_E49V exm962002 11 118997823 [A/G] NM_015517,NM_001243259,NM_198971 HINFP,HINFP,HINFP EXON Missense_D57N,Missense_D57N,Missense_D57N exm962005 11 119001462 [A/G] NM_015517,NM_001243259,NM_198971 HINFP,HINFP,HINFP EXON Missense_E70G,Missense_E70G,Missense_E70G exm962013 11 119002333 [T/C] NM_015517,NM_001243259,NM_198971 HINFP,HINFP,HINFP EXON Missense_P167L,Missense_P167L,Missense_P167L exm962034 11 119003845 [A/G] NM_015517,NM_001243259,NM_198971 HINFP,HINFP,HINFP EXON Missense_K352R,Missense_K352R,Missense_K352R exm962046 11 119004904 [T/C] NM_015517,NM_001243259,NM_198971 HINFP,HINFP,HINFP EXON Missense_T417M,Silent,Missense_T417M exm2218079 11 119004967 [A/G] NM_015517,NM_001243259,NM_198971 HINFP,HINFP,HINFP EXON Missense_R438H,Silent,Missense_R438H exm962049 11 119005003 [A/G] NM_015517,NM_001243259,NM_198971 HINFP,HINFP,HINFP EXON Missense_G450E,Silent,Missense_G450E exm962050 11 119005057 [A/G] NM_015517,NM_001243259,NM_198971 HINFP,HINFP,HINFP EXON Missense_N468S,Silent,Missense_N468S exm962051 11 119005066 [A/G] NM_015517,NM_001243259,NM_198971 HINFP,HINFP,HINFP EXON Missense_N471S,Silent,Missense_N471S exm962053 11 119005074 [A/G] NM_015517,NM_001243259,NM_198971 HINFP,HINFP,HINFP EXON Missense_G474S,Silent,Missense_G474S exm962056 11 119005125 [C/G] NM_015517,NM_001243259,NM_198971 HINFP,HINFP,HINFP EXON Missense_P491A,Silent,Missense_P491A exm962077 11 119025514 [T/C] NM_022169,NM_001142505 ABCG4,ABCG4 EXON Missense_S192L,Missense_S192L exm1697301 11 119027691 [C/G] NM_022169,NM_001142505 ABCG4,ABCG4 EXON Missense_N345K,Missense_N345K exm962095 11 119027699 [G/C] NM_022169,NM_001142505 ABCG4,ABCG4 EXON Missense_P348R,Missense_P348R exm962096 11 119027711 [T/C] NM_022169,NM_001142505 ABCG4,ABCG4 EXON Missense_P352L,Missense_P352L exm962097 11 119027724 [A/G] NM_022169,NM_001142505 ABCG4,ABCG4 EXON Synonymous_P356P,Synonymous_P356P exm962101 11 119029041 [T/C] NM_022169,NM_001142505 ABCG4,ABCG4 EXON Missense_T389M,Missense_T389M exm962104 11 119029283 [A/G] NM_022169,NM_001142505 ABCG4,ABCG4 EXON Missense_R395Q,Missense_R395Q exm962109 11 119029342 [A/G] NM_022169,NM_001142505 ABCG4,ABCG4 EXON Missense_D415N,Missense_D415N exm962116 11 119030980 [T/C] NM_022169,NM_001142505 ABCG4,ABCG4 EXON Missense_T494M,Missense_T494M exm2249608 11 119030981 [A/G] NM_022169,NM_001142505 ABCG4,ABCG4 EXON Synonymous_T494T,Synonymous_T494T exm962127 11 119031299 [A/G] NM_022169,NM_001142505 ABCG4,ABCG4 EXON Missense_G550S,Missense_G550S exm962138 11 119042123 [A/G] NM_024618,NM_170722 NLRX1,NLRX1 EXON Missense_G4D,Missense_G4D exm962139 11 119042152 [T/C] NM_024618,NM_170722 NLRX1,NLRX1 EXON Missense_S14P,Missense_S14P exm962142 11 119043071 [A/G] NM_024618,NM_170722 NLRX1,NLRX1 EXON Missense_R26H,Missense_R26H exm962150 11 119043656 [T/C] NM_024618,NM_170722 NLRX1,NLRX1 EXON Missense_P63S,Missense_P63S exm962152 11 119043671 [T/C] NM_024618,NM_170722 NLRX1,NLRX1 EXON Missense_R68W,Missense_R68W exm962155 11 119044199 [T/C] NM_024618,NM_170722 NLRX1,NLRX1 EXON Missense_R81W,Missense_R81W exm962161 11 119044281 [T/C] NM_024618,NM_170722 NLRX1,NLRX1 EXON Missense_T108M,Missense_T108M exm962168 11 119044329 [T/C] NM_024618,NM_170722 NLRX1,NLRX1 EXON Missense_L124P,Missense_L124P exm962170 11 119044332 [T/G] NM_024618,NM_170722 NLRX1,NLRX1 EXON Missense_R125L,Missense_R125L exm962172 11 119044368 [T/C] NM_024618,NM_170722 NLRX1,NLRX1 EXON Missense_P137L,Missense_P137L exm962181 11 119044532 [A/G] NM_024618,NM_170722 NLRX1,NLRX1 EXON Missense_E192K,Missense_E192K exm962182 11 119044535 [G/C] NM_024618,NM_170722 NLRX1,NLRX1 EXON Missense_L193V,Missense_L193V exm962189 11 119044712 [T/C] NM_024618,NM_170722 NLRX1,NLRX1 EXON Missense_R252W,Missense_R252W exm1697332 11 119044743 [A/C] NM_024618,NM_170722 NLRX1,NLRX1 EXON Missense_P262Q,Missense_P262Q exm962200 11 119045210 [A/G] NM_024618,NM_170722 NLRX1,NLRX1 EXON Missense_S300G,Missense_S300G exm962201 11 119045219 [A/G] NM_024618,NM_170722 NLRX1,NLRX1 EXON Missense_V303M,Missense_V303M exm962208 11 119045300 [T/G] NM_024618,NM_170722 NLRX1,NLRX1 EXON Missense_Y330D,Missense_Y330D exm962210 11 119045372 [A/C] NM_024618,NM_170722 NLRX1,NLRX1 EXON Missense_L354I,Missense_L354I exm962211 11 119045378 [T/C] NM_024618,NM_170722 NLRX1,NLRX1 EXON Missense_R356W,Missense_R356W exm962212 11 119045408 [A/G] NM_024618,NM_170722 NLRX1,NLRX1 EXON Missense_A366T,Missense_A366T exm962219 11 119045520 [A/G] NM_024618,NM_170722 NLRX1,NLRX1 EXON Missense_R403H,Missense_R403H exm962228 11 119045630 [T/C] NM_024618,NM_170722 NLRX1,NLRX1 EXON Missense_R440C,Missense_R440C exm962231 11 119045688 [T/C] NM_024618,NM_170722 NLRX1,NLRX1 EXON Missense_T459M,Missense_T459M exm962233 11 119045723 [T/C] NM_024618,NM_170722 NLRX1,NLRX1 EXON Missense_R471W,Missense_R471W exm962241 11 119045895 [A/G] NM_024618,NM_170722 NLRX1,NLRX1 EXON Missense_R528H,Missense_R528H exm962243 11 119045951 [T/C] NM_024618,NM_170722 NLRX1,NLRX1 EXON Missense_R547W,Missense_R547W exm962261 11 119050636 [T/C] NM_024618,NM_170722 NLRX1,NLRX1 EXON Nonsense_R636X,Nonsense_R636X exm962267 11 119050765 [G/C] NM_024618,NM_170722 NLRX1,NLRX1 EXON Missense_L679V,Missense_L679V exm1697357 11 119050849 [T/C] NM_024618,NM_170722 NLRX1,NLRX1 EXON Missense_R707C,Missense_R707C exm962273 11 119050850 [A/G] NM_024618,NM_170722 NLRX1,NLRX1 EXON Missense_R707H,Missense_R707H exm962275 11 119050864 [T/A] NM_024618,NM_170722 NLRX1,NLRX1 EXON Nonsense_K712X,Nonsense_K712X exm962278 11 119050906 [A/G] NM_024618,NM_170722 NLRX1,NLRX1 EXON Missense_A726T,Missense_A726T exm962280 11 119050957 [T/C] NM_024618,NM_170722 NLRX1,NLRX1 EXON Missense_R743C,Missense_R743C exm962291 11 119052823 [C/G] NM_024618,NM_170722 NLRX1,NLRX1 EXON Missense_T792R,Missense_T792R exm962292 11 119052826 [A/C] NM_024618,NM_170722 NLRX1,NLRX1 EXON Missense_A793E,Missense_A793E exm962297 11 119052877 [T/C] NM_024618,NM_170722 NLRX1,NLRX1 EXON Missense_T810M,Missense_T810M exm962300 11 119052975 [T/G] NM_024618,NM_170722 NLRX1,NLRX1 EXON Missense_A843S,Missense_A843S exm962309 11 119053858 [T/C] NM_024618,NM_170722 NLRX1,NLRX1 EXON Missense_R880C,Silent exm962324 11 119054051 [A/G] NM_024618,NM_170722 NLRX1,NLRX1 EXON Missense_R944Q,Silent exm962355 11 119056865 [A/G] NM_024791,NR_033122,NM_001168468 PDZD3,PDZD3,PDZD3 EXON Missense_D37N,Silent,Missense_D37N exm962361 11 119057202 [A/G] NM_024791,NR_033122,NM_001168468 PDZD3,PDZD3,PDZD3 EXON Missense_E45K,Silent,Missense_E45K exm962362 11 119057206 [A/G] NM_024791,NR_033122,NM_001168468 PDZD3,PDZD3,PDZD3 EXON Missense_R46Q,Silent,Missense_R46Q exm962370 11 119057994 [T/C] NM_024791,NR_033122,NM_001168468 PDZD3,PDZD3,PDZD3 EXON Missense_R116W,Silent,Missense_R116W exm962378 11 119058126 [A/G] NM_024791,NR_033122,NM_001168468 PDZD3,PDZD3,PDZD3 EXON Missense_I160V,Silent,Missense_I160V exm962381 11 119058163 [A/C] NM_024791,NR_033122,NM_001168468 PDZD3,PDZD3,PDZD3 EXON Missense_T172N,Silent,Missense_T172N exm962387 11 119058341 [A/G] NM_024791,NR_033122,NM_001168468 PDZD3,PDZD3,PDZD3 EXON Missense_G197R,Silent,Missense_G197R exm1697390 11 119058356 [T/G] NM_024791,NR_033122,NM_001168468 PDZD3,PDZD3,PDZD3 EXON Nonsense_E202X,Silent,Nonsense_E202X exm2276216 11 119058667 [A/C] NM_024791,NR_033122,NM_001168468 PDZD3,PDZD3,PDZD3 EXON Missense_Q212K,Silent,Missense_Q226K exm962389 11 119058712 [T/C] NM_024791,NR_033122,NM_001168468 PDZD3,PDZD3,PDZD3 EXON Missense_R227C,Silent,Missense_R241C exm962390 11 119058713 [A/G] NM_024791,NR_033122,NM_001168468 PDZD3,PDZD3,PDZD3 EXON Missense_R227H,Silent,Missense_R241H exm962396 11 119059088 [T/C] NM_024791,NR_033122,NM_001168468 PDZD3,PDZD3,PDZD3 EXON Missense_P282L,Silent,Missense_P296L exm962401 11 119059199 [C/G] NM_024791,NR_033122,NM_001168468 PDZD3,PDZD3,PDZD3 EXON Missense_G319A,Silent,Missense_G333A exm962404 11 119059247 [A/G] NM_024791,NR_033122,NM_001168468 PDZD3,PDZD3,PDZD3 EXON Missense_R335H,Silent,Missense_R349H exm962407 11 119059358 [T/C] NM_024791,NR_033122,NM_001168468 PDZD3,PDZD3,PDZD3 EXON Missense_S343P,Silent,Missense_S357P exm962410 11 119059404 [A/G] NM_024791,NR_033122,NM_001168468 PDZD3,PDZD3,PDZD3 EXON Missense_R358Q,Silent,Missense_R372Q exm962412 11 119059463 [A/G] NM_024791,NR_033122,NM_001168468 PDZD3,PDZD3,PDZD3 EXON Missense_V378M,Silent,Missense_V392M exm962419 11 119059532 [T/C] NM_024791,NR_033122,NM_001168468 PDZD3,PDZD3,PDZD3 EXON Nonsense_R401X,Silent,Nonsense_R415X exm962421 11 119059559 [T/C] NM_024791,NR_033122,NM_001168468 PDZD3,PDZD3,PDZD3 EXON Missense_R410C,Silent,Missense_R424C exm962428 11 119059876 [T/C] NM_024791,NR_033122,NM_001168468 PDZD3,PDZD3,PDZD3 EXON Missense_R470W,Silent,Missense_R484W exm962429 11 119059877 [A/G] NM_024791,NR_033122,NM_001168468 PDZD3,PDZD3,PDZD3 EXON Missense_R470Q,Silent,Missense_R484Q exm962430 11 119060188 [T/C] NM_024791,NR_033122,NM_001168468 PDZD3,PDZD3,PDZD3 EXON Missense_S488L,Silent,Missense_S502L exm962435 11 119060963 [T/C] NM_001145018 CCDC153 EXON Silent exm962438 11 119061052 [A/G] NM_001145018 CCDC153 EXON Missense_L197P exm962441 11 119061077 [T/C] NM_001145018 CCDC153 EXON Missense_K189E exm962448 11 119061418 [C/G] NM_001145018 CCDC153 Silent exm962457 11 119063908 [T/C] NM_001145018 CCDC153 EXON Missense_R101H exm962459 11 119063918 [T/C] NM_001145018 CCDC153 EXON Missense_M98V exm962461 11 119063941 [T/C] NM_001145018 CCDC153 EXON Missense_Q90R exm962470 11 119064572 [A/G] NM_001145018 CCDC153 EXON Nonsense_R54X exm962473 11 119064589 [T/C] NM_001145018 CCDC153 EXON Missense_R48Q exm962479 11 119066167 [T/C] NM_001145018 CCDC153 EXON Missense_K11E exm962554 11 119156193 [T/C] NM_005188 CBL EXON Missense_L620F exm962558 11 119158562 [A/C] NM_005188 CBL EXON Missense_S648R exm962563 11 119167651 [T/C] NM_005188 CBL EXON Missense_P687L exm962572 11 119168156 [T/C] NM_005188 CBL EXON Missense_S739F exm962577 11 119169085 [A/G] NM_005188 CBL EXON Missense_A757T exm962580 11 119169161 [T/C] NM_005188 CBL EXON Missense_P782L exm1697446 11 119169166 [A/G] NM_005188 CBL EXON Missense_V784M exm962582 11 119169175 [T/C] NM_005188 CBL EXON Missense_R787C exm962584 11 119169179 [A/G] NM_005188 CBL EXON Missense_R788Q exm962593 11 119170286 [C/G] NM_005188 CBL EXON Missense_S839T exm962595 11 119170312 [A/G] NM_005188 CBL EXON Missense_A848T exm962596 11 119170358 [A/G] NM_005188 CBL EXON Missense_N863S exm962600 11 119170480 [A/G] NM_005188 CBL EXON Missense_V904I exm962603 11 119180610 [A/C] NM_006500 MCAM EXON Missense_D643Y exm1697452 11 119180624 [C/G] NM_006500 MCAM EXON Missense_G638A exm962615 11 119181151 [T/C] NM_006500 MCAM EXON Missense_E607K exm962625 11 119181530 [T/C] NM_006500 MCAM EXON Missense_A577T exm962637 11 119181818 [T/C] NM_006500 MCAM EXON Missense_A543T exm962638 11 119181830 [A/G] NM_006500 MCAM EXON Missense_P539S exm962640 11 119181868 [A/G] NM_006500 MCAM EXON Missense_S526F exm962654 11 119182522 [A/C] NM_006500 MCAM EXON Missense_I427M exm962655 11 119182536 [T/C] NM_006500 MCAM EXON Missense_V423I exm962656 11 119182557 [T/C] NM_006500 MCAM EXON Missense_G416S exm1697475 11 119182587 [A/G] NM_006500 MCAM EXON Missense_R406C exm962666 11 119182762 [T/C] NM_006500 MCAM EXON Synonymous_E381E exm962668 11 119182785 [T/C] NM_006500 MCAM EXON Missense_E374K exm962674 11 119183051 [A/G] NM_006500 MCAM EXON Missense_R317C exm962676 11 119183071 [A/G] NM_006500 MCAM EXON Missense_A310V exm962678 11 119183093 [T/C] NM_006500 MCAM EXON Missense_G303R exm962705 11 119185563 [T/C] NM_006500 MCAM EXON Missense_R127H exm962710 11 119185677 [T/C] NM_006500 MCAM EXON Missense_E89G exm962722 11 119205987 [T/C] NM_032015 RNF26 EXON Missense_T52I exm962734 11 119206304 [A/G] NM_032015 RNF26 EXON Missense_G158S exm2249609 11 119206375 [A/G] NM_032015 RNF26 EXON Synonymous_T181T exm2218092 11 119206431 [T/C] NM_032015 RNF26 EXON Missense_I200T exm962741 11 119206436 [T/C] NM_032015 RNF26 EXON Missense_L202F exm962747 11 119206587 [A/G] NM_032015 RNF26 EXON Missense_R252K exm962764 11 119206806 [A/G] NM_032015 RNF26 EXON Missense_Q325R exm962766 11 119206824 [T/C] NM_032015 RNF26 EXON Missense_A331V exm962770 11 119206912 [T/G] NM_032015 RNF26 EXON Missense_E360D exm962778 11 119207100 [A/G] NM_032015 RNF26 EXON Missense_R423Q exm962795 11 119210380 [T/G] NM_031433,NM_015645 MFRP,C1QTNF5 EXON Silent,Missense_N131K exm962823 11 119213319 [A/C] NM_031433,NM_015645 MFRP,C1QTNF5 EXON Missense_L458F,Silent exm962827 11 119213348 [T/C] NM_031433,NM_015645 MFRP,C1QTNF5 EXON Missense_G449S,Silent exm962845 11 119214525 [A/C] NM_031433,NM_015645 MFRP,C1QTNF5 Silent,Silent exm962850 11 119214577 [T/C] NM_031433,NM_015645 MFRP,C1QTNF5 EXON Missense_Y358C,Silent exm962853 11 119214636 [T/G] NM_031433,NM_015645 MFRP,C1QTNF5 EXON Missense_S338R,Silent exm962856 11 119215029 [T/C] NM_031433,NM_015645 MFRP,C1QTNF5 EXON Missense_Q324R,Silent exm962858 11 119215050 [T/C] NM_031433,NM_015645 MFRP,C1QTNF5 EXON Missense_Y317C,Silent exm962860 11 119215343 [T/C] NM_031433,NM_015645 MFRP,C1QTNF5 EXON Synonymous_S299S,Silent exm962861 11 119215344 [A/G] NM_031433,NM_015645 MFRP,C1QTNF5 EXON Missense_S299L,Silent exm962868 11 119215443 [T/C] NM_031433,NM_015645 MFRP,C1QTNF5 EXON Missense_R266H,Silent exm962869 11 119215444 [A/G] NM_031433,NM_015645 MFRP,C1QTNF5 EXON Missense_R266C,Silent exm962872 11 119215586 [T/C] NM_031433,NM_015645 MFRP,C1QTNF5 EXON Missense_R257H,Silent exm962883 11 119216142 [A/C] NM_031433,NM_015645 MFRP,C1QTNF5 EXON Missense_G210V,Silent exm962898 11 119216343 [C/G] NM_031433,NM_015645 MFRP,C1QTNF5 EXON Missense_T143S,Silent exm962900 11 119216504 [T/C] NM_031433,NM_015645 MFRP,C1QTNF5 EXON Missense_V136M,Silent exm962905 11 119216555 [T/C] NM_031433,NM_015645 MFRP,C1QTNF5 EXON Missense_I119V,Silent exm962907 11 119216575 [A/G] NM_031433,NM_015645 MFRP,C1QTNF5 EXON Missense_T112M,Silent exm2218095 11 119216783 [T/C] NM_031433,NM_015645 MFRP,C1QTNF5 EXON Missense_G82R,Silent exm962916 11 119216836 [T/C] NM_031433,NM_015645 MFRP,C1QTNF5 EXON Missense_R64H,Silent exm962920 11 119216867 [G/C] NM_031433,NM_015645 MFRP,C1QTNF5 EXON Missense_R54G,Silent exm962943 11 119227916 [A/G] NM_001243759,NM_004205,NM_171997 USP2,USP2,USP2 EXON Missense_H328Y,Missense_H571Y,Missense_H362Y exm962944 11 119227940 [A/G] NM_001243759,NM_004205,NM_171997 USP2,USP2,USP2 EXON Missense_R320C,Missense_R563C,Missense_R354C exm962946 11 119227996 [T/A] NM_001243759,NM_004205,NM_171997 USP2,USP2,USP2 EXON Missense_Y301F,Missense_Y544F,Missense_Y335F exm2249610 11 119228862 [A/G] NM_001243759,NM_004205,NM_171997 USP2,USP2,USP2 EXON Synonymous_A203A,Synonymous_A446A,Synonymous_A237A exm962967 11 119229758 [T/C] NM_001243759,NM_004205,NM_171997 USP2,USP2,USP2 EXON Missense_N140S,Missense_N383S,Missense_N174S exm962976 11 119230270 [T/C] NM_001243759,NM_004205,NM_171997 USP2,USP2,USP2 EXON Missense_N66S,Missense_N309S,Missense_N100S exm962977 11 119230277 [T/C] NM_001243759,NM_004205,NM_171997 USP2,USP2,USP2 EXON Missense_G64S,Missense_G307S,Missense_G98S exm962978 11 119230330 [T/C] NM_001243759,NM_004205,NM_171997 USP2,USP2,USP2 EXON Missense_R46Q,Missense_R289Q,Missense_R80Q exm962989 11 119243475 [A/G] NM_001243759,NM_004205 USP2,USP2 EXON Silent,Missense_T239M exm962991 11 119243502 [A/G] NM_001243759,NM_004205 USP2,USP2 EXON Silent,Missense_P230L exm962994 11 119243580 [T/C] NM_001243759,NM_004205 USP2,USP2 EXON Silent,Missense_R204H exm962997 11 119243602 [T/C] NM_001243759,NM_004205 USP2,USP2 EXON Silent,Missense_D197N exm963001 11 119243670 [T/C] NM_001243759,NM_004205 USP2,USP2 EXON Silent,Missense_R174Q exm963005 11 119243713 [A/G] NM_001243759,NM_004205 USP2,USP2 EXON Silent,Missense_R160W exm963009 11 119243731 [A/G] NM_001243759,NM_004205 USP2,USP2 EXON Silent,Missense_R154W exm963010 11 119243748 [T/C] NM_001243759,NM_004205 USP2,USP2 EXON Silent,Missense_R148Q exm963012 11 119243856 [T/C] NM_001243759,NM_004205 USP2,USP2 EXON Silent,Missense_G112E exm963013 11 119243866 [T/C] NM_001243759,NM_004205 USP2,USP2 EXON Silent,Missense_G109R exm963014 11 119243875 [A/C] NM_001243759,NM_004205 USP2,USP2 EXON Silent,Missense_G106C exm963025 11 119244000 [T/C] NM_001243759,NM_004205 USP2,USP2 EXON Silent,Missense_R64H exm963029 11 119244033 [A/G] NM_001243759,NM_004205 USP2,USP2 EXON Silent,Missense_P53L exm963044 11 119290776 [T/C] NR_034160,NM_006288 LOC100499227,THY1 EXON Silent,Missense_V120I exm963057 11 119291594 [T/C] NR_034160,NM_006288 LOC100499227,THY1 EXON Silent,Missense_A8T exm2249613 11 119386594 [T/C] exm963086 11 119509441 [T/C] NM_203285 PVRL1 EXON Synonymous_Q409Q exm963087 11 119509485 [A/G] NM_203285 PVRL1 EXON Missense_P395S exm963089 11 119509490 [A/G] NM_203285 PVRL1 EXON Missense_P393L exm963091 11 119509512 [T/C] NM_203285 PVRL1 EXON Missense_D386N exm963099 11 119510708 [C/G] NM_203285 PVRL1 EXON Missense_Q340E exm963109 11 119535491 [T/C] NM_203285,NM_002855 PVRL1,PVRL1 EXON Silent,Missense_G507E exm963130 11 119535828 [T/C] NM_203285,NM_002855 PVRL1,PVRL1 EXON Silent,Missense_V395M exm963144 11 119545312 [A/C] NM_203285,NM_002855,NM_203286 PVRL1,PVRL1,PVRL1 EXON Silent,Silent,Missense_R350M exm963148 11 119545884 [T/C] NM_203285,NM_002855,NM_203286 PVRL1,PVRL1,PVRL1 EXON Missense_E330K,Missense_E330K,Missense_E330K exm2274536 11 119547828 [T/C] NM_203285,NM_002855,NM_203286 PVRL1,PVRL1,PVRL1 EXON Missense_E279K,Missense_E279K,Missense_E279K exm963157 11 119547870 [T/C] NM_203285,NM_002855,NM_203286 PVRL1,PVRL1,PVRL1 EXON Missense_V265M,Missense_V265M,Missense_V265M exm963161 11 119548363 [T/C] NM_203285,NM_002855,NM_203286 PVRL1,PVRL1,PVRL1 EXON Missense_R212H,Missense_R212H,Missense_R212H exm963162 11 119548369 [T/C] NM_203285,NM_002855,NM_203286 PVRL1,PVRL1,PVRL1 EXON Missense_R210H,Missense_R210H,Missense_R210H exm963166 11 119548402 [T/C] NM_203285,NM_002855,NM_203286 PVRL1,PVRL1,PVRL1 EXON Missense_R199Q,Missense_R199Q,Missense_R199Q exm963193 11 119549425 [T/C] NM_203285,NM_002855,NM_203286 PVRL1,PVRL1,PVRL1 EXON Missense_G44S,Missense_G44S,Missense_G44S exm2267231 11 119630418 [A/G] exm963201 11 119983133 [T/C] NM_012101 TRIM29 EXON Missense_E586K exm963213 11 119989014 [T/C] NM_012101 TRIM29 EXON Missense_R515Q exm963215 11 119991283 [T/G] NM_012101 TRIM29 EXON Missense_K509T exm963216 11 119991292 [T/C] NM_012101 TRIM29 EXON Missense_Y506C exm963226 11 119993694 [A/G] NM_012101 TRIM29 EXON Missense_M468T exm963245 11 119996581 [T/A] NM_012101 TRIM29 EXON Missense_M384K exm963249 11 119998151 [G/C] NM_012101 TRIM29 EXON Missense_V343L exm963251 11 119998191 [A/C] NM_012101 TRIM29 EXON Missense_R329S exm963254 11 119998234 [T/C] NM_012101 TRIM29 EXON Missense_R315Q exm963257 11 119998271 [T/C] NM_012101 TRIM29 EXON Missense_T303A exm963260 11 119999154 [A/G] NM_012101 TRIM29 EXON Missense_I285T exm963271 11 120008203 [C/G] NM_012101 TRIM29 EXON Missense_N179K exm963278 11 120008385 [T/C] NM_012101 TRIM29 EXON Missense_V119I exm963281 11 120008468 [G/C] NM_012101 TRIM29 EXON Missense_S91C exm963292 11 120008652 [T/C] NM_012101 TRIM29 EXON Missense_E30K exm963308 11 120097534 [T/C] NM_178507 OAF EXON Missense_R126W exm963318 11 120097672 [T/C] NM_178507 OAF EXON Missense_R172C exm1697863 11 120097687 [T/C] NM_178507 OAF EXON Missense_R177W exm963324 11 120099658 [A/G] NM_178507 OAF EXON Missense_H210R exm963327 11 120099679 [A/G] NM_178507 OAF EXON Missense_R217H exm963345 11 120117184 [A/G] NM_001244682,NM_014352 POU2F3,POU2F3 EXON Missense_D21N,Missense_D19N exm1697876 11 120139928 [A/G] NM_001244682,NM_014352 POU2F3,POU2F3 EXON Missense_R38Q,Missense_R36Q exm2271650 11 120142118 [T/C] NM_001244682,NM_014352 POU2F3,POU2F3 Silent,Silent exm-rs11217785 11 120152591 [T/C] NM_001244682,NM_014352 POU2F3,POU2F3 Silent,Silent exm963355 11 120169052 [A/G] NM_001244682,NM_014352 POU2F3,POU2F3 EXON Missense_M73V,Missense_M71V exm963366 11 120173072 [A/T] NM_001244682,NM_014352 POU2F3,POU2F3 EXON Missense_S149T,Missense_S147T exm963368 11 120175740 [T/C] NM_001244682,NM_014352 POU2F3,POU2F3 EXON Missense_A151V,Missense_A149V exm963369 11 120175743 [T/C] NM_001244682,NM_014352 POU2F3,POU2F3 EXON Missense_F152S,Missense_F150S exm963370 11 120175748 [T/C] NM_001244682,NM_014352 POU2F3,POU2F3 EXON Missense_H154Y,Missense_H152Y exm963371 11 120175749 [A/G] NM_001244682,NM_014352 POU2F3,POU2F3 EXON Missense_H154R,Missense_H152R exm963387 11 120178311 [A/T] NM_001244682,NM_014352 POU2F3,POU2F3 EXON Missense_K300M,Missense_K298M exm963396 11 120180288 [C/G] NM_001244682,NM_014352 POU2F3,POU2F3 EXON Missense_S356C,Missense_S354C exm963397 11 120180291 [A/G] NM_001244682,NM_014352 POU2F3,POU2F3 EXON Missense_R357Q,Missense_R355Q exm963406 11 120188051 [A/G] NM_001244682,NM_014352 POU2F3,POU2F3 EXON Missense_A419T,Missense_A417T exm2249616 11 120190997 [A/G] exm963414 11 120198209 [A/G] NM_174926,NM_001198674,NM_001198675,NM_001198672,NM_001198670,NM_001198671,NM_001198673 TMEM136,TMEM136,TMEM136,TMEM136,TMEM136,TMEM136,TMEM136 EXON Missense_Y42C,Missense_Y20C,Silent,Silent,Missense_Y42C,Missense_Y20C,Silent exm2218108 11 120198260 [A/G] NM_174926,NM_001198674,NM_001198675,NM_001198672,NM_001198670,NM_001198671,NM_001198673 TMEM136,TMEM136,TMEM136,TMEM136,TMEM136,TMEM136,TMEM136 EXON Missense_R59H,Missense_R37H,Silent,Silent,Missense_R59H,Missense_R37H,Silent exm963425 11 120200698 [T/C] NM_174926,NM_001198674,NM_001198675,NM_001198672,NM_001198670,NM_001198671,NM_001198673 TMEM136,TMEM136,TMEM136,TMEM136,TMEM136,TMEM136,TMEM136 EXON Missense_T93I,Missense_T71I,Silent,Silent,Missense_T93I,Missense_T71I,Silent exm963432 11 120200849 [T/G] NM_174926,NM_001198674,NM_001198675,NM_001198672,NM_001198670,NM_001198671,NM_001198673 TMEM136,TMEM136,TMEM136,TMEM136,TMEM136,TMEM136,TMEM136 EXON Silent,Silent,Missense_E20D,Missense_E20D,Missense_E143D,Missense_E121D,Missense_E20D exm963456 11 120280115 [A/G] NM_015313,NM_001198665 ARHGEF12,ARHGEF12 EXON Missense_K52R,Silent exm963464 11 120292542 [T/C] NM_015313,NM_001198665 ARHGEF12,ARHGEF12 EXON Missense_T110I,Missense_T91I exm963473 11 120298916 [T/C] NM_015313,NM_001198665 ARHGEF12,ARHGEF12 EXON Missense_S182F,Missense_S163F exm963474 11 120298927 [A/G] NM_015313,NM_001198665 ARHGEF12,ARHGEF12 EXON Missense_E186K,Missense_E167K exm963477 11 120300448 [T/C] NM_015313,NM_001198665 ARHGEF12,ARHGEF12 EXON Missense_P231S,Missense_P212S exm963484 11 120302591 [A/G] NM_015313,NM_001198665 ARHGEF12,ARHGEF12 EXON Missense_A299T,Missense_A280T exm963490 11 120310842 [T/C] NM_015313,NM_001198665 ARHGEF12,ARHGEF12 EXON Missense_T335I,Missense_T316I exm963493 11 120310884 [A/G] NM_015313,NM_001198665 ARHGEF12,ARHGEF12 EXON Missense_H349R,Missense_H330R exm2274537 11 120310922 [T/C] NM_015313,NM_001198665 ARHGEF12,ARHGEF12 EXON Missense_H362Y,Missense_H343Y exm963508 11 120317731 [A/G] NM_015313,NM_001198665 ARHGEF12,ARHGEF12 EXON Missense_R509Q,Missense_R490Q exm963512 11 120318591 [T/C] NM_015313,NM_001198665 ARHGEF12,ARHGEF12 EXON Missense_A533V,Missense_A514V exm963524 11 120322248 [T/C] NM_015313,NM_001198665 ARHGEF12,ARHGEF12 EXON Missense_A624V,Missense_A605V exm963528 11 120322317 [A/G] NM_015313,NM_001198665 ARHGEF12,ARHGEF12 EXON Missense_R647H,Missense_R628H exm963532 11 120322373 [A/G] NM_015313,NM_001198665 ARHGEF12,ARHGEF12 EXON Missense_M666V,Missense_M647V exm963542 11 120328462 [A/G] NM_015313,NM_001198665 ARHGEF12,ARHGEF12 EXON Missense_R741Q,Missense_R722Q exm963559 11 120331416 [A/G] NM_015313,NM_001198665 ARHGEF12,ARHGEF12 EXON Missense_R855G,Missense_R836G exm963564 11 120336059 [G/C] NM_015313,NM_001198665 ARHGEF12,ARHGEF12 EXON Missense_Q909H,Missense_Q890H exm963587 11 120348176 [T/A] NM_015313,NM_001198665 ARHGEF12,ARHGEF12 EXON Missense_D1158V,Missense_D1139V exm963593 11 120348972 [G/C] NM_015313,NM_001198665 ARHGEF12,ARHGEF12 EXON Missense_Q1214E,Missense_Q1195E exm963594 11 120349026 [T/A] NM_015313,NM_001198665 ARHGEF12,ARHGEF12 EXON Missense_Y1232N,Missense_Y1213N exm963607 11 120350819 [A/G] NM_015313,NM_001198665 ARHGEF12,ARHGEF12 EXON Missense_Y1306C,Missense_Y1287C exm963608 11 120350902 [A/T] NM_015313,NM_001198665 ARHGEF12,ARHGEF12 EXON Missense_S1334T,Missense_S1315T exm963615 11 120351131 [A/G] NM_015313,NM_001198665 ARHGEF12,ARHGEF12 EXON Missense_R1410H,Missense_R1391H exm963626 11 120352212 [T/C] NM_015313,NM_001198665 ARHGEF12,ARHGEF12 EXON Missense_S1494F,Missense_S1475F exm963638 11 120531034 [T/C] NM_014619 GRIK4 EXON Missense_R3C exm963646 11 120531073 [A/G] NM_014619 GRIK4 EXON Missense_V16M exm963649 11 120531096 [G/C] NM_014619 GRIK4 EXON Missense_H23Q exm963652 11 120673443 [T/C] NM_014619 GRIK4 EXON Missense_R42W exm963654 11 120673477 [A/G] NM_014619 GRIK4 EXON Missense_N53S exm963659 11 120686116 [A/G] NM_014619 GRIK4 EXON Missense_A93T exm2271565 11 120687069 [T/G] NM_014619 GRIK4 Silent exm963665 11 120690603 [T/C] NM_014619 GRIK4 EXON Missense_A162V exm963666 11 120690618 [G/C] NM_014619 GRIK4 EXON Missense_A167G exm963682 11 120732716 [A/G] NM_014619 GRIK4 EXON Missense_I265V exm963697 11 120744881 [G/C] NM_014619 GRIK4 EXON Missense_A338G exm963706 11 120769275 [T/G] NM_014619 GRIK4 EXON Missense_M400R exm963707 11 120769284 [A/G] NM_014619 GRIK4 EXON Missense_H403R exm-rs12797755 11 120809460 [T/G] NM_014619 GRIK4 Silent exm963727 11 120811161 [A/G] NM_014619 GRIK4 EXON Missense_V528I exm963741 11 120827572 [A/C] NM_014619 GRIK4 EXON Missense_N595T exm963748 11 120827653 [A/G] NM_014619 GRIK4 EXON Missense_S622N exm963750 11 120831733 [A/G] NM_014619 GRIK4 EXON Missense_A664T exm963751 11 120831741 [T/A] NM_014619 GRIK4 EXON Missense_E666D exm963755 11 120833194 [A/G] NM_014619 GRIK4 EXON Missense_M690I exm963758 11 120833231 [A/G] NM_014619 GRIK4 EXON Missense_V703M exm963759 11 120833252 [A/G] NM_014619 GRIK4 EXON Missense_I710V exm963763 11 120833316 [A/G] NM_014619 GRIK4 EXON Missense_R731Q exm963768 11 120837936 [A/G] NM_014619 GRIK4 EXON Missense_I767V exm963775 11 120852890 [T/C] NM_014619 GRIK4 EXON Missense_M824T exm963777 11 120856619 [T/G] NM_014619 GRIK4 EXON Missense_V841F exm963802 11 120924421 [T/G] NM_001130047,NM_152715 TBCEL,TBCEL EXON Missense_M145I,Missense_M145I exm963803 11 120924422 [T/A] NM_001130047,NM_152715 TBCEL,TBCEL EXON Missense_I146L,Missense_I146L exm963819 11 120957605 [A/G] NM_001130047,NM_152715 TBCEL,TBCEL EXON Missense_I359V,Missense_I359V exm963831 11 120973430 [A/G] NM_005422 TECTA EXON Missense_Q19R exm963862 11 120984322 [A/G] NM_005422 TECTA EXON Missense_E229K exm963866 11 120984338 [A/G] NM_005422 TECTA EXON Missense_Q234R exm963876 11 120989065 [A/G] NM_005422 TECTA EXON Missense_V281I exm963879 11 120989102 [A/G] NM_005422 TECTA EXON Missense_Y293C exm963889 11 120989309 [T/G] NM_005422 TECTA EXON Missense_S362I exm963891 11 120989335 [A/G] NM_005422 TECTA EXON Missense_R371G exm963898 11 120996098 [A/T] NM_005422 TECTA EXON Missense_T431S exm963904 11 120996243 [T/C] NM_005422 TECTA EXON Missense_P479L exm963914 11 120996309 [T/C] NM_005422 TECTA EXON Missense_S501F exm963924 11 120996458 [A/G] NM_005422 TECTA EXON Missense_V551M exm963935 11 120998520 [A/G] NM_005422 TECTA EXON Missense_D612N exm963944 11 120998747 [C/G] NM_005422 TECTA EXON Missense_N687K exm963948 11 120998809 [A/G] NM_005422 TECTA EXON Missense_K708R exm963956 11 120998952 [A/G] NM_005422 TECTA EXON Missense_K756E exm963966 11 121000423 [T/C] NM_005422 TECTA EXON Missense_T815M exm963979 11 121000617 [A/G] NM_005422 TECTA EXON Missense_T880A exm963985 11 121000704 [T/C] NM_005422 TECTA EXON Missense_R909C exm963990 11 121000774 [T/C] NM_005422 TECTA EXON Missense_V932A exm963994 11 121000806 [A/C] NM_005422 TECTA EXON Missense_L943M exm964002 11 121000879 [T/C] NM_005422 TECTA EXON Missense_A967V exm964007 11 121008133 [T/C] NM_005422 TECTA EXON Missense_L982P exm1698147 11 121008155 [A/C] NM_005422 TECTA EXON Missense_H989Q exm964012 11 121008285 [T/C] NM_005422 TECTA EXON Missense_R1033W exm964023 11 121008492 [A/G] NM_005422 TECTA EXON Missense_V1102I exm964025 11 121008505 [A/G] NM_005422 TECTA EXON Missense_G1106D exm964027 11 121008594 [G/C] NM_005422 TECTA EXON Missense_D1136H exm1698151 11 121008699 [A/G] NM_005422 TECTA EXON Missense_V1171M exm964035 11 121016276 [T/C] NM_005422 TECTA EXON Missense_R1186W exm964039 11 121016463 [T/C] NM_005422 TECTA EXON Missense_P1248L exm964041 11 121016511 [A/G] NM_005422 TECTA EXON Missense_N1264S exm964043 11 121016571 [A/G] NM_005422 TECTA EXON Missense_R1284H exm964047 11 121016616 [A/G] NM_005422 TECTA EXON Missense_Q1299R exm964053 11 121016724 [A/G] NM_005422 TECTA EXON Missense_G1335E exm1698159 11 121016781 [T/C] NM_005422 TECTA EXON Missense_T1354I exm964059 11 121016805 [A/G] NM_005422 TECTA EXON Nonsense_W1362X exm964066 11 121023647 [A/G] NM_005422 TECTA EXON Missense_R1388H exm1698167 11 121028559 [A/C] NM_005422 TECTA EXON Missense_L1439I exm964073 11 121028581 [C/G] NM_005422 TECTA EXON Missense_T1446R exm964094 11 121030905 [G/C] NM_005422 TECTA EXON Missense_S1584T exm964112 11 121031063 [T/C] NM_005422 TECTA EXON Nonsense_R1637X exm964120 11 121032819 [T/C] NM_005422 TECTA EXON Missense_S1671L exm1698178 11 121033013 [A/G] NM_005422 TECTA EXON Missense_A1736T exm1698183 11 121037391 [A/G] NM_005422 TECTA EXON Missense_V1830M exm964162 11 121039471 [T/C] NM_005422 TECTA EXON Missense_Y1946H exm964167 11 121039543 [A/G] NM_005422 TECTA EXON Missense_A1970T exm964171 11 121039613 [A/G] NM_005422 TECTA EXON Missense_R1993Q exm964173 11 121058575 [A/G] NM_005422 TECTA EXON Missense_E2012K exm964176 11 121058641 [A/G] NM_005422 TECTA EXON Missense_D2034N exm964180 11 121058703 [T/C] NM_005422 TECTA EXON Synonymous_I2054I exm964198 11 121174100 [T/C] NM_006918,NM_001024956 SC5DL,SC5DL EXON Missense_R6C,Missense_R6C exm964208 11 121175079 [T/C] NM_006918,NM_001024956 SC5DL,SC5DL EXON Missense_R74C,Missense_R74C exm964220 11 121177766 [T/C] NM_006918,NM_001024956 SC5DL,SC5DL EXON Missense_R149C,Missense_R149C exm964222 11 121177799 [T/C] NM_006918,NM_001024956 SC5DL,SC5DL EXON Missense_P160S,Missense_P160S exm964226 11 121177865 [A/G] NM_006918,NM_001024956 SC5DL,SC5DL EXON Missense_I182V,Missense_I182V exm964227 11 121177920 [T/C] NM_006918,NM_001024956 SC5DL,SC5DL EXON Missense_L200S,Missense_L200S exm964228 11 121177962 [A/G] NM_006918,NM_001024956 SC5DL,SC5DL EXON Missense_R214H,Missense_R214H exm964232 11 121178032 [G/C] NM_006918,NM_001024956 SC5DL,SC5DL EXON Missense_D237E,Missense_D237E exm964235 11 121178151 [A/G] NM_006918,NM_001024956 SC5DL,SC5DL EXON Missense_R277H,Missense_R277H exm2264439 11 121291294 [A/C] exm964241 11 121323072 [G/C] NM_003105 SORL1 EXON Missense_R11P exm964253 11 121348842 [A/G] NM_003105 SORL1 EXON Missense_D140N exm964272 11 121384931 [A/C] NM_003105 SORL1 EXON Missense_N371T exm964290 11 121393684 [A/G] NM_003105 SORL1 EXON Missense_A528T exm964297 11 121403254 [A/G] NM_003105 SORL1 EXON Missense_E560K exm1698260 11 121414268 [A/G] NM_003105 SORL1 EXON Missense_N566S exm964308 11 121415993 [A/T] NM_003105 SORL1 EXON Missense_S636T exm964317 11 121420669 [T/C] NM_003105 SORL1 EXON Synonymous_C684C exm964323 11 121420751 [A/C] NM_003105 SORL1 EXON Missense_P712T exm964325 11 121421313 [A/G] NM_003105 SORL1 EXON Missense_D734N exm964328 11 121421361 [A/G] NM_003105 SORL1 EXON Missense_V750I exm964347 11 121429347 [A/G] NM_003105 SORL1 EXON Missense_R904Q exm964352 11 121429476 [T/C] NM_003105 SORL1 EXON Missense_T947M exm964358 11 121437655 [A/G] NM_003105 SORL1 EXON Missense_N1019S exm964371 11 121440913 [A/G] NM_003105 SORL1 EXON Missense_I1091V exm964373 11 121440937 [T/C] NM_003105 SORL1 EXON Missense_F1099L exm964376 11 121444958 [A/G] NM_003105 SORL1 EXON Missense_I1116V exm964391 11 121448108 [T/C] NM_003105 SORL1 EXON Synonymous_T1193T exm964395 11 121454206 [A/G] NM_003105 SORL1 EXON Missense_R1207Q exm964412 11 121458785 [T/C] NM_003105 SORL1 EXON Missense_F1291L exm964417 11 121458843 [T/C] NM_003105 SORL1 EXON Missense_A1310V exm964420 11 121460057 [A/G] NM_003105 SORL1 EXON Missense_G1346R exm964424 11 121460098 [T/C] NM_003105 SORL1 EXON Synonymous_C1359C exm964425 11 121460806 [A/G] NM_003105 SORL1 EXON Missense_G1379D exm964435 11 121461799 [A/T] NM_003105 SORL1 EXON Missense_T1435S exm1698323 11 121461856 [T/C] NM_003105 SORL1 EXON Missense_P1454S exm964438 11 121466337 [A/G] NM_003105 SORL1 EXON Missense_V1459I exm1698326 11 121466409 [A/G] NM_003105 SORL1 EXON Missense_T1483A exm964442 11 121466410 [T/C] NM_003105 SORL1 EXON Missense_T1483M exm964449 11 121474988 [A/G] NM_003105 SORL1 EXON Missense_G1536S exm964462 11 121476178 [C/G] NM_003105 SORL1 EXON Missense_V1616L exm964491 11 121485586 [A/G] NM_003105 SORL1 EXON Missense_N1809S exm964493 11 121485599 [T/A] NM_003105 SORL1 EXON Missense_H1813Q exm2249620 11 121485608 [T/C] NM_003105 SORL1 EXON Synonymous_Y1816Y exm964499 11 121489525 [T/C] NM_003105 SORL1 EXON Missense_R1883C exm964506 11 121490502 [A/C] NM_003105 SORL1 EXON Missense_Y1922S exm964515 11 121491782 [A/G] NM_003105 SORL1 EXON Missense_V1967I exm964516 11 121491819 [A/G] NM_003105 SORL1 EXON Missense_S1979N exm964518 11 121491860 [T/C] NM_003105 SORL1 EXON Missense_L1993F exm964521 11 121492871 [T/C] NM_003105 SORL1 EXON Missense_V2022A exm964522 11 121492918 [C/G] NM_003105 SORL1 EXON Missense_H2038D exm964528 11 121495816 [T/A] NM_003105 SORL1 EXON Missense_D2065V exm964530 11 121495870 [A/G] NM_003105 SORL1 EXON Missense_K2083R exm964536 11 121495911 [A/G] NM_003105 SORL1 EXON Missense_V2097I exm964543 11 121498285 [A/G] NM_003105 SORL1 EXON Missense_Q2129R exm964544 11 121498300 [T/C] NM_003105 SORL1 EXON Missense_T2134M exm1698359 11 121498387 [A/G] NM_003105 SORL1 EXON Missense_R2163Q exm964554 11 121498420 [A/C] NM_003105 SORL1 EXON Missense_N2174T exm2259708 11 121519662 [T/C] exm-rs7121446 11 121954657 [A/G] exm964566 11 121986344 [T/G] NR_024430,NM_001001786 MIR100HG,BLID EXON Silent,Missense_Q96P exm964570 11 121986404 [T/G] NR_024430,NM_001001786 MIR100HG,BLID EXON Silent,Missense_A76D exm964572 11 121986438 [A/G] NR_024430,NM_001001786 MIR100HG,BLID EXON Silent,Missense_L65F exm964578 11 121986546 [T/G] NR_024430,NM_001001786 MIR100HG,BLID EXON Silent,Missense_I29L exm964579 11 121986594 [A/G] NR_024430,NM_001001786 MIR100HG,BLID EXON Silent,Missense_H13Y exm964581 11 121986611 [A/C] NR_024430,NM_001001786 MIR100HG,BLID EXON Silent,Missense_I7R exm2271566 11 121996261 [T/C] NR_024430 MIR100HG Silent exm-rs577948 11 122030190 [A/G] NR_024430 MIR100HG Silent exm-rs565229 11 122189465 [A/G] exm2271567 11 122195989 [T/C] exm-rs7941030 11 122522375 [T/C] exm964623 11 122650402 [T/C] NM_032873 UBASH3B EXON Synonymous_T200T exm964635 11 122659889 [T/C] NM_032873 UBASH3B EXON Missense_P285S exm964646 11 122665451 [T/C] NM_032873 UBASH3B EXON Missense_T341M exm964650 11 122665528 [A/T] NM_032873 UBASH3B EXON Missense_C367S exm964653 11 122666888 [A/G] NM_032873 UBASH3B EXON Missense_G380S exm964664 11 122667682 [A/G] NM_032873 UBASH3B EXON Missense_R433Q exm1698501 11 122669667 [A/G] NM_032873 UBASH3B EXON Missense_S459G exm964668 11 122669682 [A/G] NM_032873 UBASH3B EXON Missense_D464N exm2264456 11 122675193 [A/C] NM_032873 UBASH3B Silent exm964680 11 122678778 [A/G] NM_032873 UBASH3B EXON Missense_N569S exm1698509 11 122680572 [A/G] NM_032873 UBASH3B EXON Missense_R643K exm964696 11 122720776 [A/C] NM_019604 CRTAM EXON Missense_E16A exm964707 11 122722440 [A/C] NM_019604 CRTAM EXON Missense_A78D exm964710 11 122722469 [A/G] NM_019604 CRTAM EXON Missense_V88I exm964717 11 122726430 [A/G] NM_019604 CRTAM EXON Missense_D173G exm964723 11 122726490 [T/C] NM_019604 CRTAM EXON Missense_T193M exm964728 11 122726523 [A/G] NM_019604 CRTAM EXON Missense_Q204R exm964739 11 122735368 [T/C] NM_019604 CRTAM EXON Missense_T253I exm964742 11 122735396 [A/T] NM_019604 CRTAM EXON Missense_E262D exm964754 11 122738225 [T/C] NM_019604 CRTAM EXON Missense_I309T exm964756 11 122738261 [A/G] NM_019604 CRTAM EXON Missense_K321R exm964763 11 122742028 [G/C] NM_019604 CRTAM EXON Missense_A368G exm1698551 11 122756583 [A/G] NM_024806,NM_199124 C11orf63,C11orf63 EXON Missense_K9R,Missense_K9R exm964770 11 122756610 [A/C] NM_024806,NM_199124 C11orf63,C11orf63 EXON Missense_H18P,Missense_H18P exm964795 11 122774779 [A/G] NM_024806,NM_199124 C11orf63,C11orf63 EXON Missense_Y164C,Missense_Y164C exm964796 11 122774799 [A/G] NM_024806,NM_199124 C11orf63,C11orf63 EXON Missense_M171V,Missense_M171V exm964801 11 122774860 [T/G] NM_024806,NM_199124 C11orf63,C11orf63 EXON Missense_L191R,Missense_L191R exm1698559 11 122774910 [A/G] NM_024806,NM_199124 C11orf63,C11orf63 EXON Missense_K208E,Missense_K208E exm964803 11 122774953 [T/C] NM_024806,NM_199124 C11orf63,C11orf63 EXON Missense_S222L,Missense_S222L exm964821 11 122775934 [T/C] NM_024806,NM_199124 C11orf63,C11orf63 EXON Silent,Nonsense_Q307X exm964826 11 122795636 [T/C] NM_024806 C11orf63 EXON Missense_T299M exm964829 11 122795677 [A/G] NM_024806 C11orf63 EXON Missense_D313N exm964835 11 122805266 [T/C] NM_024806 C11orf63 EXON Nonsense_Q373X exm964837 11 122805414 [A/G] NM_024806 C11orf63 EXON Missense_N422S exm964839 11 122805431 [A/G] NM_024806 C11orf63 EXON Missense_R428G exm964844 11 122805564 [T/A] NM_024806 C11orf63 EXON Missense_H472L exm964845 11 122805606 [A/G] NM_024806 C11orf63 EXON Missense_H486R exm964850 11 122817235 [T/C] NM_024806 C11orf63 EXON Missense_T555M exm964858 11 122817429 [T/C] NM_024806 C11orf63 EXON Missense_R620C exm964859 11 122817436 [A/G] NM_024806 C11orf63 EXON Missense_N622S exm964864 11 122817501 [A/G] NM_024806 C11orf63 Silent exm2218148 11 122827205 [A/T] NM_024806 C11orf63 EXON Missense_N644I exm2274538 11 122827236 [A/C] NM_024806 C11orf63 EXON Missense_D654E exm964867 11 122827255 [A/G] NM_024806 C11orf63 EXON Missense_G661R exm964869 11 122827274 [T/C] NM_024806 C11orf63 EXON Missense_I667T exm964872 11 122828123 [A/G] NM_024806 C11orf63 EXON Missense_N688S exm964887 11 122830085 [A/C] NM_024806 C11orf63 EXON Missense_I757L exm964897 11 122848366 [T/G] NM_001098169 BSX EXON Missense_H231Q exm964905 11 122848541 [T/G] NM_001098169 BSX EXON Missense_Q173P exm964925 11 122852349 [G/C] NM_001098169 BSX EXON Missense_P11A exm2271568 11 122868205 [T/C] exm-rs6589964 11 122870683 [A/C] exm964979 11 122930735 [A/C] NM_153201,NM_006597 HSPA8,HSPA8 EXON Missense_V189G,Missense_V189G exm2218149 11 122931899 [A/G] NM_153201,NM_006597 HSPA8,HSPA8 EXON Missense_T45M,Missense_T45M exm2218152 11 122944357 [T/C] NM_024769 CLMP EXON Missense_R316Q exm965020 11 122944405 [T/C] NM_024769 CLMP EXON Missense_G300D exm965021 11 122944406 [T/C] NM_024769 CLMP EXON Missense_G300S exm2249625 11 122944416 [A/G] NM_024769 CLMP EXON Synonymous_S296S exm965023 11 122944421 [A/G] NM_024769 CLMP EXON Missense_R295W exm965027 11 122944456 [T/C] NM_024769 CLMP EXON Missense_R283H exm965059 11 122955250 [T/C] NM_024769 CLMP EXON Missense_V120M exm965062 11 122955310 [A/G] NM_024769 CLMP EXON Missense_P100S exm2249626 11 122955335 [T/C] NM_024769 CLMP EXON Synonymous_A91A exm965064 11 122955402 [T/C] NM_024769 CLMP EXON Missense_R69H exm965070 11 122968526 [T/C] NM_024769 CLMP EXON Missense_D55N exm2218153 11 122968615 [T/C] NM_024769 CLMP EXON Missense_R25K exm2259710 11 123261385 [T/C] exm-rs735665 11 123361397 [A/G] exm965107 11 123476108 [A/T] NM_020716 GRAMD1B EXON Missense_D272E exm965108 11 123476158 [C/G] NM_020716 GRAMD1B EXON Missense_S289C exm965112 11 123477383 [A/G] NM_020716 GRAMD1B EXON Missense_I321V exm965113 11 123477390 [A/G] NM_020716 GRAMD1B EXON Missense_N323S exm965124 11 123479372 [A/G] NM_020716 GRAMD1B EXON Missense_V364I exm2249628 11 123480981 [T/C] NM_020716 GRAMD1B EXON Synonymous_H475H exm965144 11 123484247 [T/C] NM_020716 GRAMD1B EXON Missense_T560M exm965155 11 123485507 [A/G] NM_020716 GRAMD1B EXON Missense_Q618R exm965163 11 123489856 [T/C] NM_020716 GRAMD1B EXON Missense_S684F exm965173 11 123504870 [A/G] NM_018400,NM_001040151 SCN3B,SCN3B EXON Missense_A210V,Missense_A210V exm965191 11 123513271 [T/C] NM_018400,NM_001040151 SCN3B,SCN3B EXON Missense_V110I,Missense_V110I exm2249629 11 123513350 [T/C] NM_018400,NM_001040151 SCN3B,SCN3B EXON Synonymous_E83E,Synonymous_E83E exm2249630 11 123545176 [T/C] exm-rs2126709 11 123595927 [T/C] NM_003455 ZNF202 EXON Silent exm2218157 11 123596890 [T/C] NM_003455 ZNF202 EXON Missense_A588T exm965225 11 123597054 [C/G] NM_003455 ZNF202 EXON Missense_G533A exm965234 11 123597226 [A/G] NM_003455 ZNF202 EXON Missense_S476P exm965237 11 123597277 [A/G] NM_003455 ZNF202 EXON Missense_R459W exm965238 11 123597300 [A/G] NM_003455 ZNF202 EXON Missense_A451V exm965243 11 123597484 [A/G] NM_003455 ZNF202 EXON Missense_H390Y exm965252 11 123598898 [T/C] NM_003455 ZNF202 EXON Missense_K259E exm965254 11 123598918 [T/C] NM_003455 ZNF202 EXON Missense_S252N exm965256 11 123598943 [T/C] NM_003455 ZNF202 EXON Missense_V244I exm965260 11 123600359 [A/G] NM_003455 ZNF202 EXON Missense_H193Y exm965262 11 123600380 [T/C] NM_003455 ZNF202 EXON Missense_A186T exm965268 11 123600434 [T/C] NM_003455 ZNF202 EXON Missense_S168G exm965270 11 123600475 [A/G] NM_003455 ZNF202 EXON Missense_V154A exm965272 11 123600490 [A/G] NM_003455 ZNF202 EXON Missense_T149M exm965284 11 123624425 [T/C] NM_001005188 OR6X1 EXON Missense_I268V exm2249631 11 123624453 [T/C] NM_001005188 OR6X1 EXON Synonymous_L258L exm1698812 11 123624453 [T/C] NM_001005188 OR6X1 EXON Synonymous_L258L exm965290 11 123624520 [A/G] NM_001005188 OR6X1 EXON Missense_F236S exm965291 11 123624541 [G/C] NM_001005188 OR6X1 EXON Missense_A229G exm965292 11 123624553 [T/C] NM_001005188 OR6X1 EXON Missense_R225Q exm965295 11 123624658 [T/G] NM_001005188 OR6X1 EXON Missense_T190N exm965298 11 123624673 [A/G] NM_001005188 OR6X1 EXON Missense_A185V exm965304 11 123624769 [A/G] NM_001005188 OR6X1 EXON Missense_I153T exm1698815 11 123624792 [C/G] NM_001005188 OR6X1 EXON Missense_S145R exm965309 11 123624869 [A/G] NM_001005188 OR6X1 EXON Missense_R120C exm965317 11 123625006 [A/G] NM_001005188 OR6X1 EXON Missense_T74I exm965320 11 123625042 [C/G] NM_001005188 OR6X1 EXON Missense_C62S exm965325 11 123625142 [T/C] NM_001005188 OR6X1 EXON Missense_I29V exm965330 11 123625220 [T/G] NM_001005188 OR6X1 EXON Missense_N3H exm965335 11 123676231 [T/G] NM_001005325 OR6M1 EXON Missense_T276K exm965342 11 123676366 [T/C] NM_001005325 OR6M1 EXON Missense_R231H exm965343 11 123676387 [T/C] NM_001005325 OR6M1 EXON Missense_R224H exm965344 11 123676388 [A/G] NM_001005325 OR6M1 EXON Missense_R224C exm1698820 11 123676426 [A/G] NM_001005325 OR6M1 EXON Missense_T211I exm965348 11 123676476 [C/G] NM_001005325 OR6M1 EXON Missense_K194N exm965354 11 123676585 [A/G] NM_001005325 OR6M1 EXON Missense_T158I exm965362 11 123676711 [A/G] NM_001005325 OR6M1 EXON Missense_M116T exm965365 11 123676738 [A/G] NM_001005325 OR6M1 EXON Missense_T107M exm965366 11 123676744 [T/A] NM_001005325 OR6M1 EXON Missense_L105Q exm965368 11 123676777 [T/C] NM_001005325 OR6M1 EXON Missense_G94D exm965371 11 123676829 [C/G] NM_001005325 OR6M1 EXON Missense_P77A exm965378 11 123676994 [A/G] NM_001005325 OR6M1 EXON Nonsense_R22X exm965379 11 123677056 [A/G] NM_001005325 OR6M1 EXON Missense_M1T exm965388 11 123753937 [A/G] NM_001013743 TMEM225 EXON Missense_C196R exm965389 11 123753958 [T/C] NM_001013743 TMEM225 EXON Missense_E189K exm965396 11 123754803 [T/C] NM_001013743 TMEM225 EXON Missense_V148I exm965399 11 123754835 [A/G] NM_001013743 TMEM225 EXON Missense_I137T exm965400 11 123754844 [T/C] NM_001013743 TMEM225 EXON Missense_N134S exm965412 11 123756057 [T/C] NM_001013743 TMEM225 EXON Missense_M26V exm965414 11 123756102 [T/C] NM_001013743 TMEM225 EXON Missense_G11S exm1698840 11 123756104 [T/G] NM_001013743 TMEM225 EXON Missense_Q10P exm965416 11 123756132 [T/C] NM_001013743 TMEM225 EXON Missense_M1V exm965418 11 123777215 [A/C] NM_001005197 OR8D4 EXON Missense_P26H exm965419 11 123777217 [A/C] NM_001005197 OR8D4 EXON Missense_L27I exm965420 11 123777268 [A/C] NM_001005197 OR8D4 EXON Missense_S44R exm965421 11 123777280 [A/G] NM_001005197 OR8D4 EXON Missense_I48V exm965422 11 123777296 [A/G] NM_001005197 OR8D4 EXON Missense_R53H exm965423 11 123777302 [T/G] NM_001005197 OR8D4 EXON Missense_L55R exm965424 11 123777307 [A/T] NM_001005197 OR8D4 EXON Missense_T57S exm965426 11 123777412 [A/G] NM_001005197 OR8D4 EXON Missense_I92V exm965427 11 123777420 [T/G] NM_001005197 OR8D4 EXON Nonsense_Y94X exm965429 11 123777442 [T/G] NM_001005197 OR8D4 EXON Missense_F102V exm965431 11 123777497 [A/G] NM_001005197 OR8D4 EXON Missense_C120Y exm965433 11 123777502 [T/C] NM_001005197 OR8D4 EXON Missense_R122C exm965434 11 123777511 [T/G] NM_001005197 OR8D4 EXON Missense_A125S exm965436 11 123777536 [A/G] NM_001005197 OR8D4 EXON Missense_R133K exm965437 11 123777546 [C/G] NM_001005197 OR8D4 EXON Missense_M136I exm965445 11 123777736 [T/C] NM_001005197 OR8D4 EXON Missense_F200L exm965446 11 123777752 [T/C] NM_001005197 OR8D4 EXON Missense_F205S exm965447 11 123777754 [A/C] NM_001005197 OR8D4 EXON Missense_N206H exm965453 11 123777854 [A/G] NM_001005197 OR8D4 EXON Missense_S239N exm965457 11 123777907 [A/T] NM_001005197 OR8D4 EXON Missense_S257T exm965461 11 123777986 [T/C] NM_001005197 OR8D4 EXON Missense_L283P exm965463 11 123778026 [A/C] NM_001005197 OR8D4 EXON Missense_E296D exm965464 11 123778031 [A/G] NM_001005197 OR8D4 EXON Missense_R298K exm1698850 11 123778076 [A/C] NM_001005197 OR8D4 EXON Missense_P313Q exm965472 11 123810492 [A/C] NM_001001965 OR4D5 EXON Missense_T57P exm965476 11 123810502 [A/G] NM_001001965 OR4D5 EXON Missense_Y60C exm965481 11 123810603 [T/G] NM_001001965 OR4D5 EXON Missense_F94V exm965482 11 123810604 [T/C] NM_001001965 OR4D5 EXON Missense_F94S exm965490 11 123810745 [T/G] NM_001001965 OR4D5 EXON Missense_C141F exm965492 11 123810783 [A/G] NM_001001965 OR4D5 EXON Missense_I154V exm965495 11 123810886 [G/C] NM_001001965 OR4D5 EXON Missense_A188G exm965496 11 123810918 [A/G] NM_001001965 OR4D5 EXON Missense_M199V exm965500 11 123811000 [A/G] NM_001001965 OR4D5 EXON Missense_R226Q exm965504 11 123811020 [T/C] NM_001001965 OR4D5 EXON Missense_R233C exm965507 11 123811066 [T/C] NM_001001965 OR4D5 EXON Missense_T248I exm965510 11 123811103 [T/G] NM_001001965 OR4D5 EXON Missense_R260S exm965513 11 123811152 [A/C] NM_001001965 OR4D5 EXON Missense_I277L exm965516 11 123811164 [T/A] NM_001001965 OR4D5 EXON Missense_M281L exm1698863 11 123811179 [A/G] NM_001001965 OR4D5 EXON Missense_I286V exm965519 11 123811249 [T/C] NM_001001965 OR4D5 EXON Missense_I309T exm965529 11 123813635 [G/C] NM_001005187 OR6T1 EXON Missense_A304G exm965531 11 123813668 [T/C] NM_001005187 OR6T1 EXON Missense_R293H exm965533 11 123813720 [T/C] NM_001005187 OR6T1 EXON Missense_V276I exm965535 11 123813725 [A/G] NM_001005187 OR6T1 EXON Missense_A274V exm965539 11 123813795 [T/C] NM_001005187 OR6T1 EXON Missense_I251V exm965541 11 123813818 [A/G] NM_001005187 OR6T1 EXON Missense_S243L exm965547 11 123813863 [T/G] NM_001005187 OR6T1 EXON Missense_A228D exm965562 11 123814023 [T/C] NM_001005187 OR6T1 EXON Missense_D175N exm1698872 11 123814081 [G/C] NM_001005187 OR6T1 EXON Missense_W155C exm965566 11 123814136 [T/G] NM_001005187 OR6T1 EXON Missense_N137T exm965568 11 123814145 [T/G] NM_001005187 OR6T1 EXON Missense_T134N exm965575 11 123814286 [A/G] NM_001005187 OR6T1 EXON Missense_T87M exm965581 11 123814356 [A/G] NM_001005187 OR6T1 EXON Missense_R64W exm965587 11 123814439 [A/G] NM_001005187 OR6T1 EXON Missense_I36T exm965591 11 123814478 [A/G] NM_001005187 OR6T1 EXON Missense_I23T exm965593 11 123814521 [A/C] NM_001005187 OR6T1 EXON Missense_V9L exm2249633 11 123847412 [T/G] NM_001004474 OR10S1 EXON Synonymous_P329P exm965599 11 123847412 [T/G] NM_001004474 OR10S1 EXON Synonymous_P329P exm965600 11 123847413 [T/G] NM_001004474 OR10S1 EXON Missense_P329Q exm965604 11 123847473 [A/G] NM_001004474 OR10S1 EXON Missense_V309A exm965605 11 123847474 [A/C] NM_001004474 OR10S1 EXON Missense_V309L exm965608 11 123847558 [T/C] NM_001004474 OR10S1 EXON Missense_A281T exm965614 11 123847678 [A/G] NM_001004474 OR10S1 EXON Missense_R241C exm965616 11 123847710 [A/G] NM_001004474 OR10S1 EXON Missense_I230T exm965625 11 123847831 [A/G] NM_001004474 OR10S1 EXON Missense_Y190H exm965627 11 123847891 [T/C] NM_001004474 OR10S1 EXON Missense_A170T exm965638 11 123848016 [A/G] NM_001004474 OR10S1 EXON Missense_L128P exm965641 11 123848064 [A/G] NM_001004474 OR10S1 EXON Missense_A112V exm965646 11 123848121 [T/C] NM_001004474 OR10S1 EXON Missense_K93R exm965650 11 123848212 [T/C] NM_001004474 OR10S1 EXON Missense_G63S exm965661 11 123848388 [T/C] NM_001004474 OR10S1 EXON Missense_R4H exm965690 11 123886694 [A/G] NM_001004462 OR10G4 EXON Missense_S138N exm2218164 11 123886879 [T/G] NM_001004462 OR10G4 EXON Missense_V200L exm965708 11 123886894 [C/G] NM_001004462 OR10G4 EXON Missense_V205L exm965714 11 123886931 [A/G] NM_001004462 OR10G4 EXON Missense_Y217C exm965724 11 123886984 [A/G] NM_001004462 OR10G4 EXON Missense_R235G exm965732 11 123887107 [A/G] NM_001004462 OR10G4 EXON Missense_T276A exm965735 11 123887117 [T/C] NM_001004462 OR10G4 EXON Missense_T279M exm965738 11 123887164 [A/C] NM_001004462 OR10G4 EXON Missense_K295Q exm965753 11 123893765 [T/C] NM_001001953 OR10G9 EXON Missense_P16S exm965792 11 123894317 [T/G] NM_001001953 OR10G9 EXON Missense_V200L exm965807 11 123894455 [G/C] NM_001001953 OR10G9 EXON Missense_V246L exm965811 11 123894518 [A/G] NM_001001953 OR10G9 EXON Missense_V267M exm965812 11 123894522 [A/G] NM_001001953 OR10G9 EXON Missense_D268G exm965821 11 123894608 [T/G] NM_001001953 OR10G9 EXON Missense_A297S exm965822 11 123894609 [T/C] NM_001001953 OR10G9 EXON Missense_A297V exm965823 11 123894635 [A/G] NM_001001953 OR10G9 EXON Missense_A306T exm965852 11 123900660 [T/C] NM_001004464 OR10G8 EXON Missense_C111R exm965855 11 123900691 [A/G] NM_001004464 OR10G8 EXON Missense_R121H exm965856 11 123900694 [A/G] NM_001004464 OR10G8 EXON Missense_Y122C exm1698919 11 123900730 [T/C] NM_001004464 OR10G8 EXON Missense_M134T exm965857 11 123900741 [T/C] NM_001004464 OR10G8 EXON Missense_R138C exm965859 11 123900748 [A/G] NM_001004464 OR10G8 EXON Missense_C140Y exm965875 11 123900916 [T/C] NM_001004464 OR10G8 EXON Missense_T196I exm965881 11 123900966 [A/G] NM_001004464 OR10G8 EXON Missense_I213V exm965882 11 123900968 [A/G] NM_001004464 OR10G8 EXON Missense_I213M exm2249634 11 123901223 [T/G] NM_001004464 OR10G8 EXON Synonymous_L298L exm965904 11 123908879 [A/G] NM_001004463 OR10G7 EXON Missense_T277M exm965907 11 123908942 [A/G] NM_001004463 OR10G7 EXON Missense_F256S exm965929 11 123909127 [T/G] NM_001004463 OR10G7 EXON Missense_N194K exm965930 11 123909128 [T/A] NM_001004463 OR10G7 EXON Missense_N194I exm965945 11 123909296 [T/C] NM_001004463 OR10G7 EXON Missense_R138H exm965949 11 123909311 [T/C] NM_001004463 OR10G7 EXON Missense_N133S exm2218171 11 123909683 [A/G] NM_001004463 OR10G7 EXON Missense_A9V exm965986 11 123988253 [C/G] NM_198315,NM_014622,NM_001130142 VWA5A,VWA5A,VWA5A EXON Missense_R12P,Missense_R12P,Missense_R12P exm965999 11 123988899 [T/C] NM_198315,NM_014622,NM_001130142 VWA5A,VWA5A,VWA5A EXON Missense_R84C,Missense_R84C,Missense_R84C exm966002 11 123988933 [A/G] NM_198315,NM_014622,NM_001130142 VWA5A,VWA5A,VWA5A EXON Missense_H95R,Missense_H95R,Missense_H95R exm966010 11 123989245 [T/G] NM_198315,NM_014622,NM_001130142 VWA5A,VWA5A,VWA5A EXON Missense_S159A,Missense_S159A,Missense_S159A exm2274540 11 123989278 [A/G] NM_198315,NM_014622,NM_001130142 VWA5A,VWA5A,VWA5A EXON Missense_I170V,Missense_I170V,Missense_I170V exm966013 11 123989320 [A/G] NM_198315,NM_014622,NM_001130142 VWA5A,VWA5A,VWA5A EXON Missense_A184T,Missense_A184T,Missense_A184T exm966017 11 123989374 [A/G] NM_198315,NM_014622,NM_001130142 VWA5A,VWA5A,VWA5A EXON Missense_S202G,Missense_S202G,Missense_S202G exm966018 11 123989383 [A/G] NM_198315,NM_014622,NM_001130142 VWA5A,VWA5A,VWA5A EXON Missense_E205K,Missense_E205K,Missense_E205K exm966019 11 123989718 [A/G] NM_198315,NM_014622,NM_001130142 VWA5A,VWA5A,VWA5A EXON Missense_V228M,Missense_V228M,Missense_V228M exm966025 11 123993819 [T/C] NM_198315,NM_014622,NM_001130142 VWA5A,VWA5A,VWA5A EXON Nonsense_R305X,Nonsense_R305X,Nonsense_R305X exm966030 11 123994161 [T/C] NM_198315,NM_014622,NM_001130142 VWA5A,VWA5A,VWA5A EXON Missense_P340L,Missense_P340L,Missense_P340L exm966035 11 123994458 [A/G] NM_198315,NM_014622,NM_001130142 VWA5A,VWA5A,VWA5A EXON Missense_A371T,Missense_A371T,Missense_A371T exm966046 11 124005718 [A/G] NM_014622,NM_001130142 VWA5A,VWA5A EXON Missense_G446S,Missense_G446S exm966047 11 124005730 [T/A] NM_014622,NM_001130142 VWA5A,VWA5A EXON Missense_M450L,Missense_M450L exm966051 11 124006972 [T/G] NM_014622,NM_001130142 VWA5A,VWA5A EXON Missense_S499I,Missense_S499I exm966053 11 124006993 [A/G] NM_014622,NM_001130142 VWA5A,VWA5A EXON Missense_R506K,Missense_R506K exm2249635 11 124007734 [T/C] NM_014622,NM_001130142 VWA5A,VWA5A EXON Synonymous_H546H,Synonymous_H546H exm966058 11 124007736 [A/G] NM_014622,NM_001130142 VWA5A,VWA5A EXON Missense_R547H,Missense_R547H exm966059 11 124007781 [A/G] NM_014622,NM_001130142 VWA5A,VWA5A EXON Missense_R562K,Missense_R562K exm966060 11 124007870 [A/G] NM_014622,NM_001130142 VWA5A,VWA5A EXON Missense_N592D,Missense_N592D exm966062 11 124007900 [T/C] NM_014622,NM_001130142 VWA5A,VWA5A EXON Missense_P602S,Missense_P602S exm1698977 11 124007918 [A/G] NM_014622,NM_001130142 VWA5A,VWA5A EXON Missense_V608I,Missense_V608I exm966065 11 124007930 [A/G] NM_014622,NM_001130142 VWA5A,VWA5A EXON Missense_I612V,Missense_I612V exm966073 11 124012332 [A/G] NM_014622,NM_001130142 VWA5A,VWA5A EXON Missense_R636H,Missense_R636H exm966076 11 124012404 [A/G] NM_014622,NM_001130142 VWA5A,VWA5A EXON Missense_Y660C,Missense_Y660C exm966079 11 124013149 [T/G] NM_014622,NM_001130142 VWA5A,VWA5A EXON Missense_G675V,Missense_G675V exm966083 11 124013266 [G/C] NM_014622,NM_001130142 VWA5A,VWA5A EXON Missense_A714G,Missense_A714G exm2275343 11 124016024 [A/G] NM_014622,NM_001130142 VWA5A,VWA5A EXON Nonsense_W745X,Nonsense_W745X exm966088 11 124016058 [T/C] NM_014622,NM_001130142 VWA5A,VWA5A EXON Missense_R757C,Missense_R757C exm966089 11 124016059 [A/G] NM_014622,NM_001130142 VWA5A,VWA5A EXON Missense_R757H,Missense_R757H exm966090 11 124016065 [A/G] NM_014622,NM_001130142 VWA5A,VWA5A EXON Missense_H759R,Missense_H759R exm966094 11 124016626 [T/G] NM_014622,NM_001130142 VWA5A,VWA5A EXON Missense_V779L,Missense_V779L exm966101 11 124095414 [C/G] NM_001007249 OR8G2 EXON Missense_S6C exm966110 11 124095647 [A/C] NM_001007249 OR8G2 EXON Missense_I84L exm966122 11 124095884 [A/G] NM_001007249 OR8G2 EXON Missense_I163V exm966147 11 124096277 [A/G] NM_001007249 OR8G2 EXON Missense_V294I exm966148 11 124096292 [A/C] NM_001007249 OR8G2 EXON Missense_N299H exm966149 11 124096305 [T/C] NM_001007249 OR8G2 EXON Missense_I303T exm-rs2512276 11 124115370 [G/C] exm966166 11 124120819 [A/G] NM_001002905,NR_045681 OR8G1,OR8G1 EXON Missense_S133G,Silent exm966174 11 124120924 [T/C] NM_001002905,NR_045681 OR8G1,OR8G1 EXON Missense_F168L,Silent exm966176 11 124121000 [A/G] NM_001002905,NR_045681 OR8G1,OR8G1 EXON Missense_Y193C,Silent exm966177 11 124121018 [T/C] NM_001002905,NR_045681 OR8G1,OR8G1 EXON Missense_I199T,Silent exm966184 11 124121162 [T/C] NM_001002905,NR_045681 OR8G1,OR8G1 EXON Missense_A247V,Silent exm966185 11 124121199 [C/G] NM_001002905,NR_045681 OR8G1,OR8G1 EXON Missense_X259Y,Silent exm2249637 11 124121235 [A/G] NM_001002905,NR_045681 OR8G1,OR8G1 EXON Synonymous_G271G,Silent exm966195 11 124134751 [T/C] NM_001002905,NM_001005198 OR8G1,OR8G5 EXON Silent,Missense_F10S exm966201 11 124134915 [A/G] NM_001002905,NM_001005198 OR8G1,OR8G5 EXON Silent,Missense_V65I exm966202 11 124134925 [A/G] NM_001002905,NM_001005198 OR8G1,OR8G5 EXON Silent,Missense_G68E exm966205 11 124134973 [T/C] NM_001002905,NM_001005198 OR8G1,OR8G5 EXON Silent,Missense_I84T exm966217 11 124135215 [T/G] NM_001002905,NM_001005198 OR8G1,OR8G5 EXON Silent,Missense_L165V exm966221 11 124135438 [A/G] NM_001002905,NM_001005198 OR8G1,OR8G5 EXON Silent,Missense_G239E exm966225 11 124135507 [A/G] NM_001002905,NM_001005198 OR8G1,OR8G5 EXON Silent,Missense_R262H exm966236 11 124135688 [G/C] NM_001002905,NM_001005198 OR8G1,OR8G5 EXON Silent,Synonymous_P322P exm1699008 11 124179857 [T/C] NM_001002917 OR8D1 EXON Missense_D269G exm966251 11 124179891 [T/C] NM_001002917 OR8D1 EXON Missense_M258V exm966252 11 124179902 [A/G] NM_001002917 OR8D1 EXON Missense_S254F exm966255 11 124179936 [A/T] NM_001002917 OR8D1 EXON Missense_S243T exm2274541 11 124179980 [T/A] NM_001002917 OR8D1 EXON Missense_I228N exm966262 11 124180061 [A/G] NM_001002917 OR8D1 EXON Missense_I201T exm966263 11 124180082 [A/G] NM_001002917 OR8D1 EXON Missense_L194P exm966269 11 124180282 [A/C] NM_001002917 OR8D1 EXON Missense_C127W exm966274 11 124180356 [A/G] NM_001002917 OR8D1 EXON Missense_F103L exm966275 11 124180359 [A/C] NM_001002917 OR8D1 EXON Missense_F102V exm966282 11 124180458 [T/C] NM_001002917 OR8D1 EXON Missense_V69I exm966285 11 124180515 [T/C] NM_001002917 OR8D1 EXON Missense_A50T exm966289 11 124180643 [T/G] NM_001002917 OR8D1 EXON Missense_S7Y exm966292 11 124189219 [A/G] NM_001002918 OR8D2 EXON Missense_L292P exm966295 11 124189243 [A/C] NM_001002918 OR8D2 EXON Missense_M284R exm966297 11 124189289 [C/G] NM_001002918 OR8D2 EXON Missense_E269Q exm1699018 11 124189292 [T/C] NM_001002918 OR8D2 EXON Missense_M268V exm966298 11 124189306 [A/G] NM_001002918 OR8D2 EXON Missense_P263L exm966321 11 124189663 [A/G] NM_001002918 OR8D2 EXON Missense_M144T exm966323 11 124189729 [T/C] NM_001002918 OR8D2 EXON Missense_R122H exm966333 11 124190033 [A/G] NM_001002918 OR8D2 EXON Missense_P21S exm966334 11 124190036 [A/G] NM_001002918 OR8D2 EXON Missense_R20C exm2249638 11 124252718 [A/G] NM_001005468 OR8B2 EXON Synonymous_I174I exm966366 11 124252963 [T/A] NM_001005468 OR8B2 EXON Missense_S93T exm966373 11 124253060 [C/G] NM_001005468 OR8B2 EXON Nonsense_Y60X exm1699036 11 124253092 [T/C] NM_001005468 OR8B2 EXON Missense_G50S exm966377 11 124253124 [A/G] NM_001005468 OR8B2 EXON Missense_M39T exm2249639 11 124266390 [A/G] NM_001005467 OR8B3 EXON Synonymous_P286P exm1699048 11 124266877 [A/C] NM_001005467 OR8B3 EXON Missense_V124G exm966425 11 124267132 [A/G] NM_001005467 OR8B3 EXON Missense_M39T exm1699056 11 124293857 [A/C] NM_001005196 OR8B4 EXON Missense_L304R exm2249640 11 124294006 [T/C] NM_001005196 OR8B4 EXON Synonymous_G254G exm1699059 11 124294134 [T/G] NM_001005196 OR8B4 EXON Missense_S212R exm966443 11 124294154 [T/A] NM_001005196 OR8B4 EXON Missense_I205N exm966446 11 124294213 [A/C] NM_001005196 OR8B4 EXON Missense_Q185H exm966447 11 124294236 [A/G] NM_001005196 OR8B4 EXON Missense_C178R exm966450 11 124294256 [T/C] NM_001005196 OR8B4 EXON Missense_N171S exm966466 11 124294703 [T/C] NM_001005196 OR8B4 EXON Missense_E22G exm966472 11 124310110 [A/C] NM_012378 OR8B8 EXON Missense_S291I exm1699067 11 124310259 [T/G] NM_012378 OR8B8 EXON Nonsense_C241X exm966480 11 124310270 [A/T] NM_012378 OR8B8 EXON Missense_F238I exm966481 11 124310273 [T/C] NM_012378 OR8B8 EXON Missense_A237T exm966484 11 124310318 [A/G] NM_012378 OR8B8 EXON Missense_L222F exm966499 11 124310617 [T/C] NM_012378 OR8B8 EXON Missense_R122H exm966500 11 124310618 [A/G] NM_012378 OR8B8 EXON Missense_R122C exm966504 11 124310626 [A/G] NM_012378 OR8B8 EXON Missense_A119V exm966508 11 124310699 [T/C] NM_012378 OR8B8 EXON Missense_A95T exm966510 11 124310752 [T/A] NM_012378 OR8B8 EXON Missense_I77N exm966513 11 124310856 [T/G] NM_012378 OR8B8 EXON Missense_N42K exm966514 11 124310872 [A/G] NM_012378 OR8B8 EXON Missense_V37A exm2267234 11 124341985 [A/G] exm966526 11 124412730 [A/G] NM_001005195 OR8B12 EXON Missense_S274F exm966532 11 124412838 [T/C] NM_001005195 OR8B12 EXON Missense_S238N exm966533 11 124412851 [A/G] NM_001005195 OR8B12 EXON Missense_S234P exm966542 11 124413128 [G/C] NM_001005195 OR8B12 EXON Missense_L141F exm966546 11 124413198 [A/G] NM_001005195 OR8B12 EXON Missense_A118V exm966547 11 124413214 [T/G] NM_001005195 OR8B12 EXON Missense_I113L exm2249642 11 124413248 [A/G] NM_001005195 OR8B12 EXON Synonymous_F101F exm966555 11 124413439 [T/C] NM_001005195 OR8B12 EXON Missense_V38M exm966560 11 124413492 [A/G] NM_001005195 OR8B12 EXON Missense_P20L exm966562 11 124413517 [T/G] NM_001005195 OR8B12 EXON Missense_I12L exm966566 11 124440043 [A/G] NM_001005194 OR8A1 EXON Missense_T27A exm966569 11 124440068 [T/C] NM_001005194 OR8A1 EXON Missense_T35M exm966579 11 124440241 [A/G] NM_001005194 OR8A1 EXON Missense_V93I exm966580 11 124440253 [A/G] NM_001005194 OR8A1 EXON Missense_K97E exm966589 11 124440362 [G/C] NM_001005194 OR8A1 EXON Missense_T133R exm966591 11 124440385 [T/G] NM_001005194 OR8A1 EXON Missense_V141F exm966593 11 124440389 [A/C] NM_001005194 OR8A1 EXON Missense_A142D exm966603 11 124440590 [A/G] NM_001005194 OR8A1 EXON Missense_Y209C exm966604 11 124440605 [C/G] NM_001005194 OR8A1 EXON Missense_T214R exm966605 11 124440617 [T/C] NM_001005194 OR8A1 EXON Missense_S218L exm966607 11 124440641 [T/C] NM_001005194 OR8A1 EXON Missense_T226M exm2218188 11 124440785 [A/T] NM_001005194 OR8A1 EXON Missense_M274K exm966618 11 124440913 [A/G] NM_001005194 OR8A1 EXON Missense_V317M exm966619 11 124440923 [T/C] NM_001005194 OR8A1 EXON Missense_T320M exm2271570 11 124449980 [T/G] exm2267301 11 124466751 [A/G] exm966626 11 124481615 [A/G] NM_052959 PANX3 EXON Missense_A55T exm966629 11 124482903 [G/C] NM_052959 PANX3 EXON Missense_S70T exm966633 11 124482966 [A/G] NM_052959 PANX3 EXON Missense_H91R exm966635 11 124482977 [C/G] NM_052959 PANX3 EXON Missense_G95R exm966637 11 124483017 [A/G] NM_052959 PANX3 EXON Missense_K108R exm966646 11 124487281 [A/G] NM_052959 PANX3 EXON Missense_E146K exm966648 11 124487291 [A/C] NM_052959 PANX3 EXON Missense_K149T exm966662 11 124489274 [A/G] NM_052959 PANX3 EXON Missense_T208A exm966666 11 124489328 [A/T] NM_052959 PANX3 EXON Missense_Y226N exm966671 11 124489437 [A/G] NM_052959 PANX3 EXON Missense_R262K exm966673 11 124489538 [T/C] NM_052959 PANX3 EXON Missense_R296W exm2218190 11 124489545 [A/G] NM_052959 PANX3 EXON Missense_D298G exm966686 11 124489827 [T/C] NM_052959 PANX3 EXON Missense_P392L exm966703 11 124496402 [T/C] NR_016021,NM_032811 TBRG1,TBRG1 EXON Silent,Missense_A163V exm966720 11 124500296 [T/C] NR_016021,NM_032811 TBRG1,TBRG1 EXON Silent,Missense_P251S exm966722 11 124500321 [T/C] NR_016021,NM_032811 TBRG1,TBRG1 EXON Silent,Missense_I259T exm966731 11 124500720 [T/C] NR_016021,NM_032811 TBRG1,TBRG1 EXON Silent,Nonsense_Q306X exm1699121 11 124501181 [T/G] NR_016021,NM_032811 TBRG1,TBRG1 EXON Silent,Missense_V320L exm966742 11 124502031 [T/C] NR_016021,NM_032811 TBRG1,TBRG1 EXON Silent,Missense_S378F exm966743 11 124502114 [T/C] NR_016021,NM_032811 TBRG1,TBRG1 EXON Silent,Missense_P406S exm966744 11 124502132 [T/C] NR_016021,NM_032811 TBRG1,TBRG1 EXON Silent,Missense_X412R exm1699129 11 124506947 [T/C] NM_001199922,NM_170601 SIAE,SIAE EXON Missense_Q456R,Missense_Q491R exm966752 11 124507003 [T/A] NM_001199922,NM_170601 SIAE,SIAE EXON Missense_H437Q,Missense_H472Q exm966753 11 124507019 [A/G] NM_001199922,NM_170601 SIAE,SIAE EXON Missense_A432V,Missense_A467V exm966754 11 124507034 [T/C] NM_001199922,NM_170601 SIAE,SIAE EXON Missense_Q427R,Missense_Q462R exm966764 11 124508457 [T/G] NM_001199922,NM_170601 SIAE,SIAE EXON Missense_K399T,Missense_K434T exm966767 11 124508502 [T/C] NM_001199922,NM_170601 SIAE,SIAE EXON Missense_G384E,Missense_G419E exm966782 11 124509651 [T/A] NM_001199922,NM_170601 SIAE,SIAE EXON Missense_M325K,Missense_M360K exm966786 11 124509708 [T/C] NM_001199922,NM_170601 SIAE,SIAE EXON Nonsense_W306X,Nonsense_W341X exm966793 11 124517286 [T/C] NM_001199922,NM_170601 SIAE,SIAE EXON Missense_R279H,Missense_R314H exm966795 11 124517292 [A/G] NM_001199922,NM_170601 SIAE,SIAE EXON Missense_T277M,Missense_T312M exm966798 11 124517341 [A/G] NM_001199922,NM_170601 SIAE,SIAE EXON Missense_L261F,Missense_L296F exm966802 11 124517370 [A/G] NM_001199922,NM_170601 SIAE,SIAE EXON Missense_T251M,Missense_T286M exm966805 11 124518058 [T/C] NM_001199922,NM_170601 SIAE,SIAE EXON Missense_D211N,Missense_D246N exm966810 11 124519603 [T/C] NM_001199922,NM_170601 SIAE,SIAE EXON Missense_G177R,Missense_G212R exm966812 11 124519636 [A/G] NM_001199922,NM_170601 SIAE,SIAE EXON Missense_R166C,Missense_R201C exm966813 11 124519650 [A/C] NM_001199922,NM_170601 SIAE,SIAE EXON Missense_C161F,Missense_C196F exm966816 11 124524614 [T/G] NM_001199922,NM_170601 SIAE,SIAE EXON Missense_Q126K,Missense_Q161K exm966824 11 124530608 [G/C] NM_001199922,NM_170601 SIAE,SIAE EXON Missense_N72K,Missense_N107K exm966827 11 124530664 [T/C] NM_001199922,NM_170601 SIAE,SIAE EXON Missense_M54V,Missense_M89V exm-rs544368 11 124537995 [T/C] NM_001199922,NM_170601 SIAE,SIAE Silent,Silent exm966831 11 124539273 [T/C] NM_001199922,NM_170601 SIAE,SIAE EXON Missense_K36R,Missense_K71R exm966843 11 124543597 [G/C] NM_001199922,NM_170601 SIAE,SIAE EXON Silent,Missense_A3G exm1699165 11 124545233 [T/C] NM_001199922,NM_017425 SIAE,SPA17 EXON Silent,Missense_R25C exm966856 11 124551336 [A/G] NM_017425 SPA17 EXON Missense_Y69C exm966862 11 124564245 [A/G] NM_017425 SPA17 EXON Missense_K120R exm-rs12807809 11 124606285 [T/C] exm966874 11 124617442 [T/C] NM_014312 VSIG2 EXON Missense_M325V exm966884 11 124618346 [A/G] NM_014312 VSIG2 EXON Missense_V264A exm966888 11 124618380 [T/C] NM_014312 VSIG2 EXON Missense_V253M exm966892 11 124618541 [G/C] NM_014312 VSIG2 EXON Synonymous_T235T exm966897 11 124619648 [T/C] NM_014312 VSIG2 EXON Missense_R181H exm966899 11 124619682 [T/C] NM_014312 VSIG2 EXON Missense_E170K exm2218196 11 124619709 [A/G] NM_014312 VSIG2 EXON Missense_S161P exm966900 11 124619747 [A/G] NM_014312 VSIG2 EXON Missense_P148L exm966911 11 124620766 [A/G] NM_014312 VSIG2 EXON Missense_R91W exm966915 11 124621363 [T/A] NM_014312 VSIG2 EXON Missense_W59R exm966926 11 124623558 [A/G] NM_138961 ESAM EXON Missense_A386V exm966928 11 124623589 [T/C] NM_138961 ESAM EXON Missense_V376M exm966930 11 124623658 [T/C] NM_138961 ESAM EXON Missense_A353T exm966932 11 124623769 [A/C] NM_138961 ESAM EXON Missense_A316S exm966937 11 124623847 [T/C] NM_138961 ESAM EXON Missense_I290V exm1699210 11 124624144 [T/C] NM_138961 ESAM EXON Missense_G275S exm966940 11 124624147 [A/G] NM_138961 ESAM EXON Missense_R274W exm966941 11 124624150 [A/G] NM_138961 ESAM EXON Missense_R273C exm966947 11 124624235 [T/C] NM_138961 ESAM EXON Synonymous_G244G exm966949 11 124624554 [A/G] NM_138961 ESAM EXON Missense_T238M exm966950 11 124624555 [T/C] NM_138961 ESAM EXON Missense_T238A exm966962 11 124626438 [G/C] NM_138961 ESAM EXON Synonymous_L150L exm966966 11 124626544 [A/C] NM_138961 ESAM EXON Missense_G115V exm966969 11 124626569 [A/G] NM_138961 ESAM EXON Missense_R107W exm966972 11 124626602 [T/G] NM_138961 ESAM EXON Missense_P96T exm966983 11 124632019 [T/C] NM_138961 ESAM EXON Missense_N11S exm966993 11 124637227 [T/C] NM_024631 MSANTD2 EXON Missense_G457R exm966999 11 124637452 [A/G] NM_024631 MSANTD2 EXON Missense_P382S exm967008 11 124644653 [T/C] NM_024631 MSANTD2 EXON Missense_S191N exm967026 11 124735519 [A/G] NM_022370 ROBO3 EXON Missense_A16T exm967041 11 124739450 [A/G] NM_022370 ROBO3 EXON Missense_V198M exm2218201 11 124739955 [A/G] NM_022370 ROBO3 EXON Missense_M253V exm967052 11 124740063 [T/C] NM_022370 ROBO3 EXON Missense_R257C exm967056 11 124740144 [A/G] NM_022370 ROBO3 EXON Missense_D284N exm967062 11 124740559 [T/C] NM_022370 ROBO3 EXON Missense_T323M exm967063 11 124740574 [T/C] NM_022370 ROBO3 EXON Missense_A328V exm967065 11 124740594 [A/G] NM_022370 ROBO3 EXON Missense_A335T exm1699258 11 124740924 [A/G] NM_022370 ROBO3 EXON Missense_V350M exm967073 11 124742307 [A/C] NM_022370 ROBO3 EXON Missense_P397T exm967077 11 124742365 [A/G] NM_022370 ROBO3 EXON Missense_R416H exm967078 11 124742385 [A/G] NM_022370 ROBO3 EXON Missense_V423M exm967082 11 124742851 [A/G] NM_022370 ROBO3 EXON Missense_V468M exm2274542 11 124742934 [A/C] NM_022370 ROBO3 EXON Missense_D495E exm967088 11 124743211 [A/G] NM_022370 ROBO3 EXON Missense_M514I exm967091 11 124743284 [T/C] NM_022370 ROBO3 EXON Missense_R539W exm967092 11 124743286 [A/G] NM_022370 ROBO3 EXON Synonymous_R539R exm967102 11 124744019 [T/C] NM_022370 ROBO3 EXON Missense_T613I exm967103 11 124744033 [A/G] NM_022370 ROBO3 EXON Missense_G618S exm967113 11 124744124 [A/G] NM_022370 ROBO3 EXON Missense_R648H exm967115 11 124744752 [T/C] NM_022370 ROBO3 EXON Missense_R674C exm967126 11 124745460 [A/C] NM_022370 ROBO3 EXON Missense_A767D exm967127 11 124745468 [T/G] NM_022370 ROBO3 EXON Missense_G770C exm1699289 11 124747074 [C/G] NM_022370 ROBO3 EXON Missense_P933A exm967161 11 124747839 [T/G] NM_022370 ROBO3 EXON Missense_G998V exm967179 11 124748620 [G/C] NM_022370 ROBO3 EXON Missense_A1154G exm967184 11 124749133 [T/C] NM_022370 ROBO3 EXON Missense_M1194T exm967185 11 124749145 [A/G] NM_022370 ROBO3 EXON Missense_R1198H exm967194 11 124749722 [T/C] NM_022370 ROBO3 EXON Missense_A1279V exm967201 11 124750356 [A/G] NM_022370 ROBO3 EXON Missense_R1334Q exm967208 11 124750455 [A/G] NM_022370 ROBO3 EXON Missense_R1367Q exm967212 11 124750471 [A/C] NM_022370 ROBO3 EXON Missense_S1372R exm1699315 11 124751139 [T/C] NM_022370 ROBO3 EXON Missense_P1385L exm967231 11 124755072 [A/G] NM_019055 ROBO4 EXON Missense_W956R exm967250 11 124756657 [T/C] NM_019055 ROBO4 EXON Missense_V833I exm967252 11 124756683 [G/C] NM_019055 ROBO4 EXON Missense_P824R exm967257 11 124756981 [T/C] NM_019055 ROBO4 EXON Missense_R776H exm967258 11 124756982 [A/G] NM_019055 ROBO4 EXON Missense_R776C exm967261 11 124757039 [A/T] NM_019055 ROBO4 EXON Missense_C757S exm967267 11 124757104 [A/G] NM_019055 ROBO4 EXON Missense_P735L exm967272 11 124757299 [A/G] NM_019055 ROBO4 EXON Missense_P718L exm967275 11 124757328 [A/C] NM_019055 ROBO4 EXON Missense_E708D exm967278 11 124757360 [T/G] NM_019055 ROBO4 EXON Missense_L698M exm967283 11 124757644 [T/G] NM_019055 ROBO4 EXON Missense_L681I exm967285 11 124757679 [T/C] NM_019055 ROBO4 EXON Missense_R669Q exm967286 11 124757680 [A/G] NM_019055 ROBO4 EXON Missense_R669W exm967289 11 124757700 [T/C] NM_019055 ROBO4 EXON Missense_G662D exm1699336 11 124757704 [A/G] NM_019055 ROBO4 EXON Missense_R661W exm967294 11 124761228 [A/G] NM_019055 ROBO4 EXON Missense_P639S exm1699340 11 124761242 [A/C] NM_019055 ROBO4 EXON Missense_R634L exm967295 11 124761243 [A/G] NM_019055 ROBO4 EXON Missense_R634C exm967301 11 124761368 [T/C] NM_019055 ROBO4 EXON Missense_S592N exm967305 11 124761456 [A/G] NM_019055 ROBO4 EXON Missense_L563F exm967308 11 124761561 [T/C] NM_019055 ROBO4 Silent exm1699348 11 124761571 [A/G] NM_019055 ROBO4 EXON Missense_R559C exm1699350 11 124761607 [A/G] NM_019055 ROBO4 EXON Missense_R547W exm967315 11 124761657 [T/C] NM_019055 ROBO4 EXON Missense_R530H exm967327 11 124763786 [A/G] NM_019055 ROBO4 EXON Missense_R492W exm1699359 11 124764265 [T/C] NM_019055 ROBO4 EXON Missense_V384I exm967343 11 124764988 [A/G] NM_019055 ROBO4 EXON Missense_R380C exm967348 11 124765404 [A/G] NM_019055 ROBO4 EXON Missense_R329W exm2249643 11 124765432 [A/G] NM_019055 ROBO4 EXON Synonymous_Y319Y exm967349 11 124765432 [A/G] NM_019055 ROBO4 EXON Synonymous_Y319Y exm2276937 11 124765491 [A/C] NM_019055 ROBO4 EXON Nonsense_E300X exm967353 11 124765511 [T/G] NM_019055 ROBO4 EXON Missense_Q293P exm967363 11 124765733 [A/G] NM_019055 ROBO4 EXON Missense_P252L exm967365 11 124765793 [A/G] NM_019055 ROBO4 EXON Missense_T232M exm967366 11 124765797 [A/T] NM_019055 ROBO4 EXON Missense_Y231N exm967369 11 124766117 [T/C] NM_019055 ROBO4 EXON Missense_R219H exm967386 11 124766537 [A/G] NM_019055 ROBO4 EXON Missense_R144W exm967392 11 124766843 [A/G] NM_019055 ROBO4 EXON Missense_R129W exm967397 11 124766914 [A/G] NM_019055 ROBO4 EXON Missense_L105P exm967404 11 124767038 [A/G] NM_019055 ROBO4 EXON Missense_R64C exm967406 11 124767067 [T/C] NM_019055 ROBO4 EXON Missense_Q54R exm967433 11 124789755 [T/C] NM_001037558,NM_152722 HEPN1,HEPACAM EXON Missense_W37R,Silent exm1699389 11 124789756 [A/G] NM_001037558,NM_152722 HEPN1,HEPACAM EXON Nonsense_W37X,Silent exm967435 11 124789828 [T/A] NM_001037558,NM_152722 HEPN1,HEPACAM EXON Missense_H61L,Silent exm967452 11 124791314 [T/C] NM_152722 HEPACAM EXON Missense_N324S exm967456 11 124792656 [A/G] NM_152722 HEPACAM EXON Missense_R288C exm967457 11 124792667 [T/C] NM_152722 HEPACAM EXON Missense_Q284R exm967462 11 124793299 [A/G] NM_152722 HEPACAM EXON Missense_T247I exm967485 11 124794829 [T/G] NM_152722 HEPACAM EXON Missense_D74E exm967495 11 124794912 [T/C] NM_152722 HEPACAM EXON Missense_V47M exm967504 11 124805895 [C/G] NM_152722 HEPACAM EXON Missense_R3T exm967512 11 124824804 [A/T] NM_025004 CCDC15 EXON Missense_Y59F exm967518 11 124829724 [C/G] NM_025004 CCDC15 EXON Missense_G114A exm967522 11 124829873 [A/G] NM_025004 CCDC15 EXON Missense_E164K exm967527 11 124845016 [T/C] NM_025004 CCDC15 EXON Missense_R181C exm967531 11 124847393 [T/C] NM_025004 CCDC15 EXON Missense_P217L exm967548 11 124857464 [A/G] NM_025004 CCDC15 EXON Missense_D448N exm967557 11 124857708 [A/G] NM_025004 CCDC15 EXON Missense_G529D exm967561 11 124857789 [T/A] NM_025004 CCDC15 EXON Missense_K556I exm967564 11 124857858 [T/A] NM_025004 CCDC15 EXON Missense_I579K exm967578 11 124858023 [A/G] NM_025004 CCDC15 EXON Missense_K634R exm967585 11 124862483 [T/C] NM_025004 CCDC15 EXON Missense_A680V exm967591 11 124863097 [T/G] NM_025004 CCDC15 EXON Missense_E724D exm967593 11 124863123 [T/C] NM_025004 CCDC15 EXON Missense_T733I exm967607 11 124875006 [A/G] NM_025004 CCDC15 EXON Missense_R770H exm967610 11 124875065 [A/G] NM_025004 CCDC15 EXON Missense_K790E exm967612 11 124908352 [T/C] NM_025004 CCDC15 EXON Missense_C813R exm967617 11 124908448 [A/C] NM_025004 CCDC15 EXON Missense_Q845K exm967620 11 124908821 [A/G] NM_025004 CCDC15 EXON Missense_V864I exm967642 11 124933322 [A/G] NM_001145290,NM_198277 SLC37A2,SLC37A2 EXON Nonsense_W20X,Nonsense_W20X exm967649 11 124946723 [A/G] NM_001145290,NM_198277 SLC37A2,SLC37A2 EXON Missense_S44G,Missense_S44G exm967651 11 124946729 [A/G] NM_001145290,NM_198277 SLC37A2,SLC37A2 EXON Missense_V46I,Missense_V46I exm967655 11 124947129 [T/C] NM_001145290,NM_198277 SLC37A2,SLC37A2 EXON Missense_R49C,Missense_R49C exm967663 11 124947396 [A/G] NM_001145290,NM_198277 SLC37A2,SLC37A2 EXON Missense_I96V,Missense_I96V exm967688 11 124950640 [A/G] NM_001145290,NM_198277 SLC37A2,SLC37A2 EXON Missense_V220I,Missense_V220I exm967694 11 124951673 [A/C] NM_001145290,NM_198277 SLC37A2,SLC37A2 EXON Missense_D252E,Missense_D252E exm967697 11 124951719 [A/G] NM_001145290,NM_198277 SLC37A2,SLC37A2 EXON Missense_G268S,Missense_G268S exm967699 11 124951767 [A/G] NM_001145290,NM_198277 SLC37A2,SLC37A2 EXON Missense_A284T,Missense_A284T exm967700 11 124951795 [A/G] NM_001145290,NM_198277 SLC37A2,SLC37A2 EXON Missense_R293Q,Missense_R293Q exm967708 11 124954150 [G/C] NM_001145290,NM_198277 SLC37A2,SLC37A2 EXON Missense_V354L,Missense_V354L exm2218216 11 124954187 [A/G] NM_001145290,NM_198277 SLC37A2,SLC37A2 EXON Missense_C366Y,Missense_C366Y exm967732 11 124955476 [T/C] NM_001145290,NM_198277 SLC37A2,SLC37A2 EXON Missense_A444V,Missense_A444V exm967755 11 124967594 [A/G] NM_001258240,NM_001258241,NM_001258238,NM_001258245,NM_001258244,NM_001258247,NR_047588,NM_001258239,NM_001258246,NM_001258243,NM_001258242,NR_047586,NR_047589,NR_047591,NR_047587,NM_001080546,NR_047592,NR_047590 TMEM218,TMEM218,TMEM218,TMEM218,TMEM218,TMEM218,TMEM218,TMEM218,TMEM218,TMEM218,TMEM218,TMEM218,TMEM218,TMEM218,TMEM218,TMEM218,TMEM218,TMEM218 EXON Missense_F86L,Missense_F86L,Missense_F86L,Missense_F86L,Missense_F86L,Missense_F86L,Silent,Missense_F121L,Missense_F121L,Missense_F121L,Missense_F121L,Silent,Silent,Silent,Silent,Missense_F86L,Silent,Silent exm967756 11 124967612 [A/G] NM_001258240,NM_001258241,NM_001258238,NM_001258245,NM_001258244,NM_001258247,NR_047588,NM_001258239,NM_001258246,NM_001258243,NM_001258242,NR_047586,NR_047589,NR_047591,NR_047587,NM_001080546,NR_047592,NR_047590 TMEM218,TMEM218,TMEM218,TMEM218,TMEM218,TMEM218,TMEM218,TMEM218,TMEM218,TMEM218,TMEM218,TMEM218,TMEM218,TMEM218,TMEM218,TMEM218,TMEM218,TMEM218 EXON Missense_R80C,Missense_R80C,Missense_R80C,Missense_R80C,Missense_R80C,Missense_R80C,Silent,Missense_R115C,Missense_R115C,Missense_R115C,Missense_R115C,Silent,Silent,Silent,Silent,Missense_R80C,Silent,Silent exm967757 11 124967615 [T/C] NM_001258240,NM_001258241,NM_001258238,NM_001258245,NM_001258244,NM_001258247,NR_047588,NM_001258239,NM_001258246,NM_001258243,NM_001258242,NR_047586,NR_047589,NR_047591,NR_047587,NM_001080546,NR_047592,NR_047590 TMEM218,TMEM218,TMEM218,TMEM218,TMEM218,TMEM218,TMEM218,TMEM218,TMEM218,TMEM218,TMEM218,TMEM218,TMEM218,TMEM218,TMEM218,TMEM218,TMEM218,TMEM218 EXON Missense_G79S,Missense_G79S,Missense_G79S,Missense_G79S,Missense_G79S,Missense_G79S,Silent,Missense_G114S,Missense_G114S,Missense_G114S,Missense_G114S,Silent,Silent,Silent,Silent,Missense_G79S,Silent,Silent exm-rs10893336 11 125023928 [A/C] exm2267235 11 125117012 [A/G] NM_022062 PKNOX2 Silent exm967782 11 125221281 [A/G] NM_022062 PKNOX2 EXON Missense_S27N exm967796 11 125255470 [T/C] NM_022062 PKNOX2 EXON Missense_T84M exm967863 11 125322254 [C/G] NM_005103 FEZ1 EXON Missense_E358Q exm967876 11 125325903 [T/C] NM_005103 FEZ1 EXON Missense_R256H exm967877 11 125325904 [A/G] NM_005103 FEZ1 EXON Missense_R256C exm967880 11 125325970 [T/C] NM_005103 FEZ1 EXON Missense_E234K exm967895 11 125351472 [T/A] NM_005103 FEZ1 EXON Missense_D123E exm967905 11 125359631 [A/G] NM_005103,NM_022549 FEZ1,FEZ1 EXON Missense_L15F,Missense_L15F exm967911 11 125445237 [T/C] NM_004879,NM_001007277 EI24,EI24 EXON Missense_R41C,Missense_R41C exm967933 11 125452284 [T/C] NM_004879,NM_001007277 EI24,EI24 EXON Synonymous_S276S,Missense_A239V exm967937 11 125452313 [A/G] NM_004879,NM_001007277 EI24,EI24 EXON Missense_H286R,Missense_I249V exm967938 11 125453419 [T/C] NM_004879,NM_001007277 EI24,EI24 EXON Missense_S288F,Missense_L251F exm967943 11 125453542 [A/G] NM_004879,NM_001007277 EI24,EI24 EXON Missense_R329H,Silent exm-rs548181 11 125461709 [A/G] exm1699639 11 125478026 [T/C] NM_152713 STT3A EXON Missense_M268T exm967992 11 125483056 [A/G] NM_152713 STT3A EXON Missense_R513H exm967997 11 125484231 [A/C] NM_152713 STT3A EXON Missense_T562P exm968034 11 125503100 [A/G] NM_001114122,NM_001244846,NM_001114121,NR_045204,NR_045205,NM_001274 CHEK1,CHEK1,CHEK1,CHEK1,CHEK1,CHEK1 EXON Missense_R156Q,Missense_R156Q,Missense_R156Q,Silent,Silent,Missense_R156Q exm968044 11 125514098 [T/C] NM_001114122,NM_001244846,NM_001114121,NR_045204,NR_045205,NM_001274 CHEK1,CHEK1,CHEK1,CHEK1,CHEK1,CHEK1 EXON Nonsense_Q346X,Nonsense_Q346X,Nonsense_Q346X,Silent,Silent,Nonsense_Q346X exm968050 11 125523647 [A/G] NM_001114122,NM_001244846,NM_001114121,NR_045204,NR_045205,NM_001274 CHEK1,CHEK1,CHEK1,CHEK1,CHEK1,CHEK1 EXON Missense_I414V,Silent,Missense_I414V,Silent,Silent,Missense_I414V exm968053 11 125525195 [A/G] NM_001114122,NM_001244846,NM_001114121,NR_045204,NR_045205,NM_001274 CHEK1,CHEK1,CHEK1,CHEK1,CHEK1,CHEK1 EXON Missense_I471V,Missense_I437V,Missense_I471V,Silent,Silent,Missense_I471V exm968062 11 125546284 [A/G] NM_020069,NM_001612,NM_020107,NM_020108 ACRV1,ACRV1,ACRV1,ACRV1 EXON Nonsense_Q196X,Nonsense_Q215X,Nonsense_Q160X,Nonsense_Q145X exm1699685 11 125546370 [A/G] NM_020069,NM_001612,NM_020107,NM_020108 ACRV1,ACRV1,ACRV1,ACRV1 EXON Missense_T167I,Missense_T186I,Missense_T131I,Missense_T116I exm968075 11 125547794 [T/C] NM_020069,NM_001612,NM_020107,NM_020108 ACRV1,ACRV1,ACRV1,ACRV1 EXON Missense_G151S,Missense_G151S,Missense_G96S,Missense_G81S exm968084 11 125547950 [T/C] NM_020069,NM_001612,NM_020107,NM_020108 ACRV1,ACRV1,ACRV1,ACRV1 EXON Missense_A99T,Missense_A99T,Missense_A44T,Silent exm968087 11 125548108 [A/G] NM_020069,NM_001612,NM_020107,NM_020108 ACRV1,ACRV1,ACRV1,ACRV1 EXON Missense_L46P,Missense_L46P,Silent,Silent exm968089 11 125548192 [T/C] NM_020069,NM_001612,NM_020107,NM_020108 ACRV1,ACRV1,ACRV1,ACRV1 EXON Missense_G18E,Missense_G18E,Missense_G18E,Missense_G18E exm968111 11 125617606 [A/G] NM_138294 PATE1 EXON Missense_V46I exm968113 11 125617610 [A/G] NM_138294 PATE1 EXON Missense_Q47R exm968115 11 125617666 [A/G] NM_138294 PATE1 EXON Missense_I66V exm968116 11 125617691 [G/C] NM_138294 PATE1 EXON Missense_A74G exm968120 11 125618495 [C/G] NM_138294 PATE1 EXON Missense_R83T exm968134 11 125647298 [C/G] NM_212555 PATE2 EXON Missense_C107W exm968147 11 125647897 [A/G] NM_212555 PATE2 EXON Missense_A26V exm968162 11 125659320 [A/C] NM_001129883 PATE3 EXON Missense_T30K exm968167 11 125703297 [T/C] NM_001144874 PATE4 EXON Missense_L15F exm968171 11 125707761 [A/C] NM_001144874 PATE4 Silent exm968179 11 125708293 [T/G] NM_001144874 PATE4 EXON Missense_C90G exm968180 11 125708294 [A/G] NM_001144874 PATE4 EXON Missense_C90Y exm968186 11 125763746 [C/G] NM_145014,NM_001134793,NM_001271985,NM_031307 HYLS1,HYLS1,PUS3,PUS3 EXON Silent,Silent,Missense_E252D,Missense_E460D exm968188 11 125763765 [T/C] NM_145014,NM_001134793,NM_001271985,NM_031307 HYLS1,HYLS1,PUS3,PUS3 EXON Silent,Silent,Missense_N246S,Missense_N454S exm968192 11 125763859 [C/G] NM_145014,NM_001134793,NM_001271985,NM_031307 HYLS1,HYLS1,PUS3,PUS3 EXON Silent,Silent,Missense_L215V,Missense_L423V exm968194 11 125763900 [T/C] NM_145014,NM_001134793,NM_001271985,NM_031307 HYLS1,HYLS1,PUS3,PUS3 EXON Silent,Silent,Missense_R201H,Missense_R409H exm968195 11 125763902 [T/C] NM_145014,NM_001134793,NM_001271985,NM_031307 HYLS1,HYLS1,PUS3,PUS3 EXON Silent,Silent,Missense_M200I,Missense_M408I exm968200 11 125764002 [A/G] NM_145014,NM_001134793,NM_001271985,NM_031307 HYLS1,HYLS1,PUS3,PUS3 EXON Silent,Silent,Missense_P167L,Missense_P375L exm2249647 11 125765159 [A/G] NM_145014,NM_001134793,NM_001271985,NM_031307 HYLS1,HYLS1,PUS3,PUS3 EXON Silent,Silent,Synonymous_L94L,Synonymous_L302L exm968218 11 125765265 [C/G] NM_145014,NM_001134793,NM_001271985,NM_031307 HYLS1,HYLS1,PUS3,PUS3 EXON Silent,Silent,Missense_Q58H,Missense_Q266H exm968221 11 125765363 [A/C] NM_145014,NM_001134793,NM_001271985,NM_031307 HYLS1,HYLS1,PUS3,PUS3 EXON Silent,Silent,Missense_V26L,Missense_V234L exm968226 11 125765528 [A/G] NM_145014,NM_001134793,NM_001271985,NM_031307 HYLS1,HYLS1,PUS3,PUS3 EXON Silent,Silent,Silent,Missense_P179S exm968235 11 125765975 [T/C] NM_145014,NM_001134793,NM_001271985,NM_031307 HYLS1,HYLS1,PUS3,PUS3 EXON Silent,Silent,Silent,Missense_I69V exm968238 11 125766022 [T/C] NM_145014,NM_001134793,NM_001271985,NM_031307 HYLS1,HYLS1,PUS3,PUS3 EXON Silent,Silent,Silent,Missense_R53H exm968240 11 125766044 [A/C] NM_145014,NM_001134793,NM_001271985,NM_031307 HYLS1,HYLS1,PUS3,PUS3 EXON Silent,Silent,Silent,Missense_A46S exm968244 11 125766124 [T/C] NM_145014,NM_001134793,NM_001271985,NM_031307 HYLS1,HYLS1,PUS3,PUS3 EXON Silent,Silent,Silent,Missense_R19Q exm968246 11 125766155 [T/C] NM_145014,NM_001134793,NM_001271985,NM_031307 HYLS1,HYLS1,PUS3,PUS3 EXON Silent,Silent,Silent,Missense_N9D exm968247 11 125766173 [A/C] NM_145014,NM_001134793,NM_001271985,NM_031307 HYLS1,HYLS1,PUS3,PUS3 EXON Silent,Silent,Silent,Missense_Y3D exm968253 11 125769318 [T/C] NM_145014,NM_001134793,NM_001271985,NM_031307 HYLS1,HYLS1,PUS3,PUS3 EXON Nonsense_R19X,Nonsense_R19X,Silent,Silent exm968256 11 125769343 [A/T] NM_145014,NM_001134793,NM_001271985,NM_031307 HYLS1,HYLS1,PUS3,PUS3 EXON Missense_F27Y,Missense_F27Y,Silent,Silent exm968258 11 125769354 [T/C] NM_145014,NM_001134793,NM_001271985,NM_031307 HYLS1,HYLS1,PUS3,PUS3 EXON Missense_C31R,Missense_C31R,Silent,Silent exm968260 11 125769536 [T/G] NM_145014,NM_001134793,NM_001271985,NM_031307 HYLS1,HYLS1,PUS3,PUS3 EXON Missense_K91N,Missense_K91N,Silent,Silent exm968274 11 125769895 [A/G] NM_145014,NM_001134793,NM_001271985,NM_031307 HYLS1,HYLS1,PUS3,PUS3 EXON Missense_D211G,Missense_D211G,Silent,Silent exm1699740 11 125769987 [T/C] NM_145014,NM_001134793,NM_001271985,NM_031307 HYLS1,HYLS1,PUS3,PUS3 EXON Nonsense_R242X,Nonsense_R242X,Silent,Silent exm968281 11 125770006 [A/G] NM_145014,NM_001134793,NM_001271985,NM_031307 HYLS1,HYLS1,PUS3,PUS3 EXON Missense_R248Q,Missense_R248Q,Silent,Silent exm968285 11 125770089 [T/C] NM_145014,NM_001134793,NM_001271985,NM_031307 HYLS1,HYLS1,PUS3,PUS3 EXON Missense_R276C,Missense_R276C,Silent,Silent exm1699744 11 125778184 [T/G] NM_013264 DDX25 Silent exm968308 11 125781367 [A/G] NM_013264 DDX25 EXON Missense_S262G exm968314 11 125787015 [T/C] NM_013264 DDX25 EXON Missense_R303C exm1699751 11 125787057 [A/G] NM_013264 DDX25 EXON Missense_V317M exm968319 11 125788533 [A/G] NM_013264 DDX25 EXON Missense_N350S exm968321 11 125788550 [A/G] NM_013264 DDX25 EXON Missense_V356M exm1699755 11 125791087 [T/G] NM_013264 DDX25 EXON Synonymous_G401G exm2249648 11 125828007 [T/C] NM_016952,NM_001243597 CDON,CDON EXON Silent,Silent exm2273487 11 125830697 [T/C] NM_016952,NM_001243597 CDON,CDON EXON Silent,Silent exm968340 11 125830848 [A/G] NM_016952,NM_001243597 CDON,CDON EXON Missense_R1262W,Missense_R1285W exm968342 11 125830878 [G/C] NM_016952,NM_001243597 CDON,CDON EXON Missense_D1252H,Missense_D1275H exm1699768 11 125831676 [T/C] NM_016952,NM_001243597 CDON,CDON EXON Missense_D1192N,Missense_D1192N exm968353 11 125831691 [A/G] NM_016952,NM_001243597 CDON,CDON EXON Missense_R1187C,Missense_R1187C exm968355 11 125831724 [T/C] NM_016952,NM_001243597 CDON,CDON EXON Missense_V1176I,Missense_V1176I exm2249649 11 125848261 [T/C] NM_016952,NM_001243597 CDON,CDON EXON Synonymous_T1098T,Synonymous_T1098T exm968360 11 125850962 [T/A] NM_016952,NM_001243597 CDON,CDON EXON Missense_H1086Q,Missense_H1086Q exm968365 11 125851029 [T/C] NM_016952,NM_001243597 CDON,CDON EXON Missense_S1064N,Missense_S1064N exm968366 11 125851030 [T/C] NM_016952,NM_001243597 CDON,CDON EXON Missense_S1064G,Missense_S1064G exm968372 11 125851120 [T/C] NM_016952,NM_001243597 CDON,CDON EXON Missense_G1034R,Missense_G1034R exm968378 11 125853839 [T/C] NM_016952,NM_001243597 CDON,CDON EXON Missense_V975I,Missense_V975I exm968389 11 125864206 [T/C] NM_016952,NM_001243597 CDON,CDON EXON Missense_S875G,Missense_S875G exm968397 11 125864848 [T/C] NM_016952,NM_001243597 CDON,CDON EXON Missense_R821H,Missense_R821H exm968398 11 125864878 [T/C] NM_016952,NM_001243597 CDON,CDON EXON Missense_R811H,Missense_R811H exm968399 11 125864893 [T/C] NM_016952,NM_001243597 CDON,CDON EXON Missense_R806Q,Missense_R806Q exm968401 11 125864918 [T/C] NM_016952,NM_001243597 CDON,CDON EXON Missense_I798V,Missense_I798V exm968402 11 125864927 [T/C] NM_016952,NM_001243597 CDON,CDON EXON Missense_V795I,Missense_V795I exm968408 11 125867185 [T/C] NM_016952,NM_001243597 CDON,CDON EXON Missense_R760Q,Missense_R760Q exm968417 11 125871715 [A/G] NM_016952,NM_001243597 CDON,CDON EXON Missense_A686V,Missense_A686V exm968420 11 125871736 [T/G] NM_016952,NM_001243597 CDON,CDON EXON Missense_A679E,Missense_A679E exm968423 11 125873883 [A/G] NM_016952,NM_001243597 CDON,CDON EXON Missense_P647L,Missense_P647L exm968429 11 125873968 [C/G] NM_016952,NM_001243597 CDON,CDON EXON Missense_D619H,Missense_D619H exm968430 11 125875658 [T/C] NM_016952,NM_001243597 CDON,CDON EXON Missense_R616Q,Missense_R616Q exm968445 11 125875902 [T/C] NM_016952,NM_001243597 CDON,CDON EXON Missense_A535T,Missense_A535T exm968456 11 125880401 [A/G] NM_016952,NM_001243597 CDON,CDON EXON Missense_S463P,Missense_S463P exm968458 11 125880478 [T/C] NM_016952,NM_001243597 CDON,CDON EXON Missense_R437H,Missense_R437H exm968463 11 125880588 [A/G] NM_016952,NM_001243597 CDON,CDON EXON Synonymous_D400D,Synonymous_D400D exm968469 11 125885167 [T/C] NM_016952,NM_001243597 CDON,CDON EXON Missense_M389I,Missense_M389I exm968475 11 125885283 [C/G] NM_016952,NM_001243597 CDON,CDON EXON Missense_P351A,Missense_P351A exm968486 11 125887066 [A/G] NM_016952,NM_001243597 CDON,CDON EXON Missense_P282L,Missense_P282L exm968491 11 125887165 [A/G] NM_016952,NM_001243597 CDON,CDON EXON Missense_P249L,Missense_P249L exm968494 11 125887204 [T/C] NM_016952,NM_001243597 CDON,CDON EXON Missense_R236H,Missense_R236H exm968506 11 125889526 [T/C] NM_016952,NM_001243597 CDON,CDON EXON Missense_E162K,Missense_E162K exm968514 11 125891160 [A/G] NM_016952,NM_001243597 CDON,CDON EXON Missense_A111V,Missense_A111V exm968520 11 125891269 [T/C] NM_016952,NM_001243597 CDON,CDON EXON Missense_V75I,Missense_V75I exm968521 11 125891295 [T/C] NM_016952,NM_001243597 CDON,CDON EXON Missense_K66R,Missense_K66R exm-rs563519 11 126028717 [T/C] exm968545 11 126073336 [T/C] NM_001144827,NM_032795 RPUSD4,RPUSD4 EXON Missense_A340T,Missense_A371T exm968548 11 126073377 [T/C] NM_001144827,NM_032795 RPUSD4,RPUSD4 EXON Missense_R326H,Missense_R357H exm968554 11 126073477 [T/C] NM_001144827,NM_032795 RPUSD4,RPUSD4 EXON Missense_A293T,Missense_A324T exm968566 11 126075444 [A/T] NM_001144827,NM_032795 RPUSD4,RPUSD4 EXON Silent,Missense_N239Y exm968570 11 126075455 [T/C] NM_001144827,NM_032795 RPUSD4,RPUSD4 EXON Silent,Missense_R235Q exm968574 11 126075494 [A/G] NM_001144827,NM_032795 RPUSD4,RPUSD4 EXON Silent,Missense_P222L exm968580 11 126075635 [A/G] NM_001144827,NM_032795 RPUSD4,RPUSD4 EXON Missense_V200A,Missense_V200A exm968582 11 126075653 [A/G] NM_001144827,NM_032795 RPUSD4,RPUSD4 EXON Missense_M194T,Missense_M194T exm968583 11 126075672 [T/G] NM_001144827,NM_032795 RPUSD4,RPUSD4 EXON Missense_I188L,Missense_I188L exm968584 11 126075677 [T/C] NM_001144827,NM_032795 RPUSD4,RPUSD4 Silent,Silent exm968589 11 126079508 [T/G] NM_001144827,NM_032795 RPUSD4,RPUSD4 EXON Missense_E155D,Missense_E155D exm968591 11 126079522 [A/G] NM_001144827,NM_032795 RPUSD4,RPUSD4 EXON Missense_R151W,Missense_R151W exm1699863 11 126080851 [A/G] NM_001144827,NM_032795 RPUSD4,RPUSD4 EXON Nonsense_R97X,Nonsense_R97X exm968601 11 126081361 [T/C] NM_001144827,NM_032795 RPUSD4,RPUSD4 EXON Missense_D58G,Missense_D58G exm968603 11 126081400 [T/C] NM_001144827,NM_032795 RPUSD4,RPUSD4 EXON Missense_R45K,Missense_R45K exm968605 11 126081403 [T/C] NM_001144827,NM_032795 RPUSD4,RPUSD4 EXON Missense_Q44R,Missense_Q44R exm968612 11 126081523 [A/G] NM_001144827,NM_032795 RPUSD4,RPUSD4 EXON Missense_P4L,Missense_P4L exm968613 11 126081524 [A/G] NM_001144827,NM_032795 RPUSD4,RPUSD4 EXON Missense_P4S,Missense_P4S exm968617 11 126104918 [A/G] NM_024556 FAM118B EXON Missense_A8T exm968619 11 126104933 [A/G] NM_024556 FAM118B EXON Missense_E13K exm968644 11 126124258 [A/G] NM_024556 FAM118B EXON Missense_Y209C exm968651 11 126126505 [T/C] NM_024556 FAM118B EXON Missense_L247P exm968668 11 126131377 [A/G] NM_024556 FAM118B EXON Missense_R347K exm968670 11 126132024 [T/C] NM_024556 FAM118B EXON Missense_T351I exm1699883 11 126133894 [T/C] NM_003139,NM_001177842 SRPR,SRPR EXON Missense_V612I,Missense_V584I exm968694 11 126134931 [T/C] NM_003139,NM_001177842 SRPR,SRPR EXON Missense_G483D,Missense_G455D exm1699893 11 126134960 [A/C] NM_003139,NM_001177842 SRPR,SRPR EXON Missense_S473R,Missense_S445R exm968698 11 126135224 [T/C] NM_003139,NM_001177842 SRPR,SRPR EXON Missense_R417H,Missense_R389H exm968700 11 126135259 [G/C] NM_003139,NM_001177842 SRPR,SRPR EXON Missense_M405I,Missense_M377I exm968705 11 126135334 [T/C] NM_003139,NM_001177842 SRPR,SRPR EXON Synonymous_T380T,Synonymous_T352T exm968711 11 126135692 [T/C] NM_003139,NM_001177842 SRPR,SRPR EXON Missense_V360I,Missense_V332I exm968716 11 126135906 [A/G] NM_003139,NM_001177842 SRPR,SRPR EXON Missense_R335C,Missense_R307C exm968720 11 126135974 [A/G] NM_003139,NM_001177842 SRPR,SRPR EXON Missense_A312V,Missense_A284V exm968727 11 126136169 [T/C] NM_003139,NM_001177842 SRPR,SRPR EXON Missense_R282Q,Missense_R254Q exm968736 11 126136513 [T/A] NM_003139,NM_001177842 SRPR,SRPR EXON Missense_K233M,Missense_K205M exm968743 11 126136811 [T/C] NM_003139,NM_001177842 SRPR,SRPR EXON Missense_D178G,Missense_D150G exm2274545 11 126139156 [A/C] NR_037647,NM_017547,NR_037648 FOXRED1,FOXRED1,FOXRED1 EXON Silent,Missense_P19T,Silent exm968773 11 126141370 [A/C] NR_037647,NM_017547,NR_037648 FOXRED1,FOXRED1,FOXRED1 EXON Silent,Missense_K42Q,Silent exm968778 11 126141451 [A/G] NR_037647,NM_017547,NR_037648 FOXRED1,FOXRED1,FOXRED1 EXON Silent,Missense_V69M,Silent exm968780 11 126141502 [A/G] NR_037647,NM_017547,NR_037648 FOXRED1,FOXRED1,FOXRED1 EXON Silent,Missense_E86K,Silent exm1699925 11 126141551 [T/C] NR_037647,NM_017547,NR_037648 FOXRED1,FOXRED1,FOXRED1 EXON Silent,Missense_T102M,Silent exm2274546 11 126142952 [T/C] NR_037647,NM_017547,NR_037648 FOXRED1,FOXRED1,FOXRED1 EXON Silent,Missense_A132V,Silent exm968788 11 126143246 [A/G] NR_037647,NM_017547,NR_037648 FOXRED1,FOXRED1,FOXRED1 EXON Silent,Missense_V145I,Silent exm2249650 11 126143335 [T/C] NR_037647,NM_017547,NR_037648 FOXRED1,FOXRED1,FOXRED1 EXON Silent,Synonymous_N174N,Silent exm968797 11 126144842 [A/C] NR_037647,NM_017547,NR_037648 FOXRED1,FOXRED1,FOXRED1 EXON Silent,Missense_S186Y,Silent exm968798 11 126144859 [C/G] NR_037647,NM_017547,NR_037648 FOXRED1,FOXRED1,FOXRED1 EXON Silent,Missense_Q192E,Silent exm968799 11 126144865 [T/C] NR_037647,NM_017547,NR_037648 FOXRED1,FOXRED1,FOXRED1 EXON Silent,Missense_R194W,Silent exm968807 11 126145709 [T/C] NR_037647,NM_017547,NR_037648 FOXRED1,FOXRED1,FOXRED1 EXON Silent,Missense_R252C,Silent exm968813 11 126146042 [G/C] NR_037647,NM_017547,NR_037648 FOXRED1,FOXRED1,FOXRED1 EXON Silent,Missense_A300G,Silent exm968818 11 126146290 [T/G] NR_037647,NM_017547,NR_037648 FOXRED1,FOXRED1,FOXRED1 EXON Silent,Missense_Y325D,Silent exm968828 11 126147003 [A/G] NR_037647,NM_017547,NR_037648 FOXRED1,FOXRED1,FOXRED1 EXON Silent,Missense_H380R,Silent exm968830 11 126147035 [T/G] NR_037647,NM_017547,NR_037648 FOXRED1,FOXRED1,FOXRED1 EXON Silent,Missense_L391V,Silent exm968835 11 126147375 [G/C] NR_037647,NM_017547,NR_037648 FOXRED1,FOXRED1,FOXRED1 EXON Silent,Missense_Q418E,Silent exm968857 11 126160814 [C/G] NM_148910,NM_001039661 TIRAP,TIRAP EXON Missense_A9P,Missense_A9P exm968859 11 126160826 [T/C] NM_148910,NM_001039661 TIRAP,TIRAP EXON Missense_R13W,Missense_R13W exm968862 11 126162372 [A/T] NM_148910,NM_001039661 TIRAP,TIRAP EXON Missense_D23V,Missense_D23V exm968865 11 126162468 [A/G] NM_148910,NM_001039661 TIRAP,TIRAP EXON Missense_S55N,Missense_S55N exm968872 11 126162590 [A/G] NM_148910,NM_001039661 TIRAP,TIRAP EXON Missense_D96N,Missense_D96N exm968874 11 126162602 [A/G] NM_148910,NM_001039661 TIRAP,TIRAP EXON Missense_A100T,Missense_A100T exm968878 11 126162666 [A/G] NM_148910,NM_001039661 TIRAP,TIRAP EXON Missense_R121Q,Missense_R121Q exm1699961 11 126162698 [A/G] NM_148910,NM_001039661 TIRAP,TIRAP EXON Missense_E132K,Missense_E132K exm968883 11 126162704 [T/C] NM_148910,NM_001039661 TIRAP,TIRAP EXON Missense_C134R,Missense_C134R exm968884 11 126162731 [T/C] NM_148910,NM_001039661 TIRAP,TIRAP EXON Missense_R143W,Missense_R143W exm968890 11 126162843 [T/C] NM_148910,NM_001039661 TIRAP,TIRAP EXON Missense_S180L,Missense_S180L exm968893 11 126162878 [T/C] NM_148910,NM_001039661 TIRAP,TIRAP EXON Nonsense_R192X,Nonsense_R192X exm968896 11 126162893 [A/G] NM_148910,NM_001039661 TIRAP,TIRAP EXON Missense_V197I,Missense_V197I exm968897 11 126162945 [T/C] NM_148910,NM_001039661 TIRAP,TIRAP EXON Missense_M214T,Missense_M214T exm968898 11 126162948 [A/G] NM_148910,NM_001039661 TIRAP,TIRAP EXON Missense_R215H,Missense_R215H exm968908 11 126173982 [A/G] NM_014026 DCPS EXON Missense_D3N exm968915 11 126174062 [T/G] NM_014026 DCPS EXON Missense_E29D exm968920 11 126176484 [A/G] NM_014026 DCPS EXON Missense_D74G exm-rs1695739 11 126196175 [A/G] NM_014026 DCPS Silent exm1699972 11 126201309 [T/C] NM_014026 DCPS EXON Missense_T129M exm968932 11 126201369 [A/G] NM_014026 DCPS EXON Missense_R149H exm2249651 11 126203911 [A/G] NM_014026 DCPS Silent exm968938 11 126208188 [A/G] NM_014026 DCPS EXON Missense_Y177C exm968940 11 126208208 [A/G] NM_014026 DCPS EXON Missense_A184T exm1699982 11 126208232 [G/C] NM_014026 DCPS EXON Missense_E192Q exm968945 11 126213242 [A/G] NM_014026,NR_033839 DCPS,FLJ39051 EXON Missense_G226D,Silent exm968954 11 126215263 [T/C] NM_014026,NR_033839 DCPS,FLJ39051 EXON Missense_R257W,Silent exm968956 11 126215285 [A/G] NM_014026,NR_033839 DCPS,FLJ39051 EXON Missense_R264Q,Silent exm968964 11 126215362 [T/G] NM_014026,NR_033839 DCPS,FLJ39051 EXON Missense_S290A,Silent exm968969 11 126215437 [T/C] NM_014026,NR_033839 DCPS,FLJ39051 EXON Missense_R315C,Silent exm968970 11 126215438 [A/G] NM_014026,NR_033839 DCPS,FLJ39051 EXON Missense_R315H,Silent exm968975 11 126215471 [G/C] NM_014026,NR_033839 DCPS,FLJ39051 EXON Missense_P326R,Silent exm1699995 11 126215482 [T/C] NM_014026,NR_033839 DCPS,FLJ39051 EXON Missense_L330F,Silent exm-rs11220462 11 126243952 [A/G] NM_001254757,NM_006278 ST3GAL4,ST3GAL4 Silent,Silent exm968979 11 126276058 [A/G] NM_001254757,NM_006278,NM_001254758 ST3GAL4,ST3GAL4,ST3GAL4 EXON Missense_S3N,Missense_S3N,Missense_S3N exm968988 11 126276406 [A/G] NM_001254757,NM_006278,NM_001254758,NM_001254759 ST3GAL4,ST3GAL4,ST3GAL4,ST3GAL4 EXON Missense_V19I,Missense_V19I,Missense_V19I,Missense_V18I exm968994 11 126276870 [T/C] NM_001254757,NM_006278,NM_001254758,NM_001254759 ST3GAL4,ST3GAL4,ST3GAL4,ST3GAL4 EXON Missense_P45L,Missense_P41L,Missense_P45L,Missense_P44L exm969005 11 126278004 [T/C] NM_001254757,NM_006278,NM_001254758,NM_001254759 ST3GAL4,ST3GAL4,ST3GAL4,ST3GAL4 EXON Missense_R118C,Missense_R114C,Missense_R118C,Missense_R117C exm969007 11 126278019 [A/G] NM_001254757,NM_006278,NM_001254758,NM_001254759 ST3GAL4,ST3GAL4,ST3GAL4,ST3GAL4 EXON Missense_V123M,Missense_V119M,Missense_V123M,Missense_V122M exm969012 11 126278203 [T/C] NM_001254757,NM_006278,NM_001254758,NM_001254759 ST3GAL4,ST3GAL4,ST3GAL4,ST3GAL4 EXON Synonymous_L147L,Synonymous_L143L,Synonymous_L147L,Synonymous_L146L exm969014 11 126278297 [A/G] NM_001254757,NM_006278,NM_001254758,NM_001254759 ST3GAL4,ST3GAL4,ST3GAL4,ST3GAL4 EXON Missense_K178R,Missense_K174R,Missense_K178R,Missense_K177R exm-rs4937126 11 126281897 [A/G] NM_001254757,NM_006278,NM_001254758,NM_001254759 ST3GAL4,ST3GAL4,ST3GAL4,ST3GAL4 Silent,Silent,Silent,Silent exm969025 11 126283492 [G/C] NM_001254757,NM_006278,NM_001254758,NM_001254759 ST3GAL4,ST3GAL4,ST3GAL4,ST3GAL4 EXON Missense_N288K,Missense_N284K,Missense_N288K,Missense_N287K exm969027 11 126283542 [T/C] NM_001254757,NM_006278,NM_001254758,NM_001254759 ST3GAL4,ST3GAL4,ST3GAL4,ST3GAL4 EXON Missense_A305V,Missense_A301V,Missense_A305V,Missense_A304V exm969031 11 126283899 [A/G] NM_001254757,NM_006278,NM_001254758,NM_001254759 ST3GAL4,ST3GAL4,ST3GAL4,ST3GAL4 EXON Missense_R320Q,Missense_R316Q,Missense_R320Q,Missense_R319Q exm969055 11 126294821 [A/G] NM_032531 KIRREL3 EXON Missense_A664V exm-rs4935969 11 126296589 [T/C] NM_032531 KIRREL3 Silent exm969065 11 126299115 [T/C] NM_032531 KIRREL3 EXON Missense_G589S exm2249653 11 126306863 [T/C] NM_032531,NM_001161707 KIRREL3,KIRREL3 EXON Synonymous_S465S,Synonymous_S465S exm969108 11 126316772 [T/C] NM_032531,NM_001161707 KIRREL3,KIRREL3 EXON Missense_R336Q,Missense_R336Q exm969115 11 126318993 [A/G] NM_032531,NM_001161707 KIRREL3,KIRREL3 EXON Missense_V303A,Missense_V303A exm969124 11 126333052 [A/G] NM_032531,NM_001161707 KIRREL3,KIRREL3 EXON Missense_H248Y,Missense_H248Y exm969129 11 126333139 [A/C] NM_032531,NM_001161707 KIRREL3,KIRREL3 EXON Missense_V219L,Missense_V219L exm969135 11 126343227 [T/C] NM_032531,NM_001161707 KIRREL3,KIRREL3 EXON Missense_I190V,Missense_I190V exm969140 11 126343310 [A/G] NM_032531,NM_001161707 KIRREL3,KIRREL3 EXON Missense_A162V,Missense_A162V exm969160 11 126432747 [T/A] NM_032531,NM_001161707 KIRREL3,KIRREL3 EXON Missense_F39Y,Missense_F39Y exm-rs485645 11 126432979 [T/C] NM_032531,NM_001161707 KIRREL3,KIRREL3 Silent,Silent exm-rs1557488 11 126619190 [T/C] NM_032531,NM_001161707 KIRREL3,KIRREL3 Silent,Silent exm-rs1939992 11 126809705 [T/C] NM_032531,NM_001161707 KIRREL3,KIRREL3 Silent,Silent exm-rs620875 11 126859157 [A/C] NM_032531,NM_001161707 KIRREL3,KIRREL3 Silent,Silent exm2249656 11 126942485 [A/G] exm2249657 11 127169960 [A/G] exm2259715 11 127274109 [A/C] exm2267239 11 127718228 [A/G] exm-rs498573 11 128054642 [T/C] exm-rs6590322 11 128206410 [T/C] exm2271656 11 128272676 [T/C] exm-rs6590330 11 128311059 [A/G] exm-rs1128334 11 128328959 [T/C] NM_005238,NM_001143820,NM_001162422 ETS1,ETS1,ETS1 EXON Silent,Silent,Silent exm969182 11 128350323 [A/T] NM_005238,NM_001143820,NM_001162422 ETS1,ETS1,ETS1 EXON Missense_F252I,Missense_F296I,Missense_F36I exm969185 11 128354720 [T/C] NM_005238,NM_001143820,NM_001162422 ETS1,ETS1,ETS1 EXON Missense_R243H,Missense_R287H,Silent exm969190 11 128354820 [A/G] NM_005238,NM_001143820,NM_001162422 ETS1,ETS1,ETS1 EXON Missense_L210F,Missense_L254F,Silent exm969195 11 128354963 [T/C] NM_005238,NM_001143820,NM_001162422 ETS1,ETS1,ETS1 EXON Missense_Y162C,Missense_Y206C,Silent exm969196 11 128354965 [A/G] NM_005238,NM_001143820,NM_001162422 ETS1,ETS1,ETS1 EXON Synonymous_S161S,Synonymous_S205S,Silent exm969202 11 128359269 [T/C] NM_005238,NM_001143820,NM_001162422 ETS1,ETS1,ETS1 EXON Missense_A107T,Missense_A151T,Silent exm2267240 11 128379964 [A/G] NM_005238,NM_001143820,NM_001162422 ETS1,ETS1,ETS1 Silent,Silent,Silent exm-rs11221332 11 128380974 [T/C] NM_005238,NM_001143820,NM_001162422 ETS1,ETS1,ETS1 Silent,Silent,Silent exm969218 11 128426228 [G/C] NM_001143820 ETS1 EXON Missense_A58P exm2218265 11 128442970 [T/C] NM_001143820 ETS1 EXON Missense_R19H exm-rs654723 11 128586155 [A/C] NM_001271012,NM_001271010,NM_001167681,NM_002017 FLI1,FLI1,FLI1,FLI1 Silent,Silent,Silent,Silent exm969231 11 128628065 [T/C] NM_001271012,NM_001271010,NM_001167681,NM_002017 FLI1,FLI1,FLI1,FLI1 EXON Silent,Silent,Silent,Missense_A25V exm969238 11 128628194 [T/G] NM_001271012,NM_001271010,NM_001167681,NM_002017 FLI1,FLI1,FLI1,FLI1 EXON Silent,Silent,Missense_R35L,Missense_R68L exm969242 11 128638034 [A/C] NM_001271012,NM_001271010,NM_001167681,NM_002017 FLI1,FLI1,FLI1,FLI1 EXON Silent,Missense_S18R,Missense_S51R,Missense_S84R exm969252 11 128642758 [T/C] NM_001271012,NM_001271010,NM_001167681,NM_002017 FLI1,FLI1,FLI1,FLI1 EXON Silent,Missense_T90I,Missense_T123I,Missense_T156I exm2249663 11 128643553 [A/C] NM_001271012,NM_001271010,NM_001167681,NM_002017 FLI1,FLI1,FLI1,FLI1 Silent,Silent,Silent,Silent exm969281 11 128680701 [A/G] NM_001271012,NM_001271010,NM_001167681,NM_002017 FLI1,FLI1,FLI1,FLI1 EXON Missense_A200T,Missense_A327T,Missense_A360T,Missense_A393T exm969294 11 128709023 [T/C] NM_153766,NM_000220,NM_153765,NM_153767,NM_153764 KCNJ1,KCNJ1,KCNJ1,KCNJ1,KCNJ1 EXON Missense_M372I,Missense_M391I,Missense_M389I,Missense_M372I,Missense_M372I exm969301 11 128709126 [A/G] NM_153766,NM_000220,NM_153765,NM_153767,NM_153764 KCNJ1,KCNJ1,KCNJ1,KCNJ1,KCNJ1 EXON Missense_M338T,Missense_M357T,Missense_M355T,Missense_M338T,Missense_M338T exm969313 11 128709433 [T/C] NM_153766,NM_000220,NM_153765,NM_153767,NM_153764 KCNJ1,KCNJ1,KCNJ1,KCNJ1,KCNJ1 EXON Missense_A236T,Missense_A255T,Missense_A253T,Missense_A236T,Missense_A236T exm969316 11 128709461 [T/G] NM_153766,NM_000220,NM_153765,NM_153767,NM_153764 KCNJ1,KCNJ1,KCNJ1,KCNJ1,KCNJ1 EXON Missense_D226E,Missense_D245E,Missense_D243E,Missense_D226E,Missense_D226E exm969326 11 128709618 [A/G] NM_153766,NM_000220,NM_153765,NM_153767,NM_153764 KCNJ1,KCNJ1,KCNJ1,KCNJ1,KCNJ1 EXON Missense_T174M,Missense_T193M,Missense_T191M,Missense_T174M,Missense_T174M exm969327 11 128709634 [A/G] NM_153766,NM_000220,NM_153765,NM_153767,NM_153764 KCNJ1,KCNJ1,KCNJ1,KCNJ1,KCNJ1 EXON Missense_R169C,Missense_R188C,Missense_R186C,Missense_R169C,Missense_R169C exm969328 11 128709643 [A/G] NM_153766,NM_000220,NM_153765,NM_153767,NM_153764 KCNJ1,KCNJ1,KCNJ1,KCNJ1,KCNJ1 EXON Missense_P166S,Missense_P185S,Missense_P183S,Missense_P166S,Missense_P166S exm969332 11 128709841 [T/C] NM_153766,NM_000220,NM_153765,NM_153767,NM_153764 KCNJ1,KCNJ1,KCNJ1,KCNJ1,KCNJ1 EXON Missense_T100A,Missense_T119A,Missense_T117A,Missense_T100A,Missense_T100A exm969339 11 128709940 [T/C] NM_153766,NM_000220,NM_153765,NM_153767,NM_153764 KCNJ1,KCNJ1,KCNJ1,KCNJ1,KCNJ1 EXON Missense_T67A,Missense_T86A,Missense_T84A,Missense_T67A,Missense_T67A exm969346 11 128710122 [T/C] NM_153766,NM_000220,NM_153765,NM_153767,NM_153764 KCNJ1,KCNJ1,KCNJ1,KCNJ1,KCNJ1 EXON Missense_R6Q,Missense_R25Q,Missense_R23Q,Missense_R6Q,Missense_R6Q exm969348 11 128712280 [T/C] NM_153766,NM_000220,NM_153765,NM_153767,NM_153764 KCNJ1,KCNJ1,KCNJ1,KCNJ1,KCNJ1 EXON Silent,Synonymous_T11T,Silent,Silent,Silent exm2249664 11 128712280 [T/C] NM_153766,NM_000220,NM_153765,NM_153767,NM_153764 KCNJ1,KCNJ1,KCNJ1,KCNJ1,KCNJ1 EXON Silent,Synonymous_T11T,Silent,Silent,Silent exm969349 11 128712281 [A/G] NM_153766,NM_000220,NM_153765,NM_153767,NM_153764 KCNJ1,KCNJ1,KCNJ1,KCNJ1,KCNJ1 EXON Silent,Missense_T11M,Silent,Silent,Silent exm969351 11 128712297 [A/G] NM_153766,NM_000220,NM_153765,NM_153767,NM_153764 KCNJ1,KCNJ1,KCNJ1,KCNJ1,KCNJ1 EXON Silent,Missense_R6W,Silent,Silent,Silent exm969361 11 128772522 [T/C] NM_000890,NM_145013,NR_045767,NM_001256088 KCNJ5,C11orf45,C11orf45,C11orf45 EXON Silent,Missense_H123R,Silent,Missense_H123R exm969366 11 128772601 [T/C] NM_000890,NM_145013,NR_045767,NM_001256088 KCNJ5,C11orf45,C11orf45,C11orf45 EXON Silent,Missense_T97A,Silent,Missense_T97A exm969370 11 128773290 [T/C] NM_000890,NM_145013,NR_045767,NM_001256088 KCNJ5,C11orf45,C11orf45,C11orf45 EXON Silent,Missense_V85I,Silent,Missense_V85I exm969371 11 128773338 [T/C] NM_000890,NM_145013,NR_045767,NM_001256088 KCNJ5,C11orf45,C11orf45,C11orf45 EXON Silent,Missense_V69M,Silent,Missense_V69M exm969380 11 128774413 [A/G] NM_000890,NM_145013,NR_045767,NM_001256088 KCNJ5,C11orf45,C11orf45,C11orf45 EXON Silent,Missense_P17S,Silent,Missense_P17S exm969391 11 128781289 [T/C] NM_000890 KCNJ5 EXON Missense_R41C exm969392 11 128781290 [A/G] NM_000890 KCNJ5 EXON Missense_R41H exm969416 11 128781798 [A/G] NM_000890 KCNJ5 EXON Missense_M210I exm969448 11 128786517 [G/C] NM_000890 KCNJ5 EXON Missense_P384R exm969458 11 128805502 [A/G] NM_001195195,NM_001195194,NM_022112,NM_001251964 TP53AIP1,TP53AIP1,TP53AIP1,TP53AIP1 EXON Silent,Missense_P116L,Missense_P120L,Silent exm969459 11 128805548 [A/G] NM_001195195,NM_001195194,NM_022112,NM_001251964 TP53AIP1,TP53AIP1,TP53AIP1,TP53AIP1 EXON Silent,Missense_P101S,Missense_P105S,Silent exm969460 11 128805557 [T/C] NM_001195195,NM_001195194,NM_022112,NM_001251964 TP53AIP1,TP53AIP1,TP53AIP1,TP53AIP1 EXON Silent,Missense_R98G,Missense_R102G,Silent exm969463 11 128806471 [A/G] NM_001195195,NM_001195194,NM_022112,NM_001251964 TP53AIP1,TP53AIP1,TP53AIP1,TP53AIP1 EXON Missense_S72F,Missense_S72F,Missense_S72F,Silent exm969479 11 128807619 [T/G] NM_001195195,NM_001195194,NM_022112,NM_001251964 TP53AIP1,TP53AIP1,TP53AIP1,TP53AIP1 EXON Nonsense_S32X,Nonsense_S32X,Nonsense_S32X,Nonsense_S32X exm969483 11 128807694 [A/G] NM_001195195,NM_001195194,NM_022112,NM_001251964 TP53AIP1,TP53AIP1,TP53AIP1,TP53AIP1 EXON Missense_A7V,Missense_A7V,Missense_A7V,Missense_A7V exm2218272 11 128838845 [T/G] NM_001142685,NM_014715 ARHGAP32,ARHGAP32 EXON Missense_E2074A,Missense_E1725A exm969492 11 128838896 [T/C] NM_001142685,NM_014715 ARHGAP32,ARHGAP32 EXON Missense_Q2057R,Missense_Q1708R exm969496 11 128838936 [T/C] NM_001142685,NM_014715 ARHGAP32,ARHGAP32 EXON Missense_G2044S,Missense_G1695S exm969502 11 128839077 [T/C] NM_001142685,NM_014715 ARHGAP32,ARHGAP32 EXON Missense_V1997M,Missense_V1648M exm969505 11 128839088 [T/C] NM_001142685,NM_014715 ARHGAP32,ARHGAP32 EXON Missense_H1993R,Missense_H1644R exm2249665 11 128839276 [A/G] NM_001142685,NM_014715 ARHGAP32,ARHGAP32 EXON Synonymous_S1930S,Synonymous_S1581S exm969516 11 128839328 [T/C] NM_001142685,NM_014715 ARHGAP32,ARHGAP32 EXON Missense_D1913G,Missense_D1564G exm969517 11 128839373 [A/G] NM_001142685,NM_014715 ARHGAP32,ARHGAP32 EXON Missense_P1898L,Missense_P1549L exm2249666 11 128839405 [T/C] NM_001142685,NM_014715 ARHGAP32,ARHGAP32 EXON Synonymous_Q1887Q,Synonymous_Q1538Q exm969520 11 128839435 [T/G] NM_001142685,NM_014715 ARHGAP32,ARHGAP32 EXON Missense_H1877Q,Missense_H1528Q exm969529 11 128839526 [G/C] NM_001142685,NM_014715 ARHGAP32,ARHGAP32 EXON Missense_S1847T,Missense_S1498T exm969532 11 128839589 [T/C] NM_001142685,NM_014715 ARHGAP32,ARHGAP32 EXON Missense_R1826H,Missense_R1477H exm969538 11 128839628 [T/C] NM_001142685,NM_014715 ARHGAP32,ARHGAP32 EXON Missense_R1813H,Missense_R1464H exm969539 11 128839629 [A/G] NM_001142685,NM_014715 ARHGAP32,ARHGAP32 EXON Missense_R1813C,Missense_R1464C exm969549 11 128839901 [T/C] NM_001142685,NM_014715 ARHGAP32,ARHGAP32 EXON Missense_N1722S,Missense_N1373S exm969550 11 128839932 [A/G] NM_001142685,NM_014715 ARHGAP32,ARHGAP32 EXON Missense_R1712W,Missense_R1363W exm969551 11 128839991 [T/C] NM_001142685,NM_014715 ARHGAP32,ARHGAP32 EXON Missense_Y1692C,Missense_Y1343C exm969553 11 128840019 [A/G] NM_001142685,NM_014715 ARHGAP32,ARHGAP32 EXON Missense_R1683C,Missense_R1334C exm969574 11 128840425 [G/C] NM_001142685,NM_014715 ARHGAP32,ARHGAP32 EXON Missense_H1547Q,Missense_H1198Q exm969587 11 128840628 [T/C] NM_001142685,NM_014715 ARHGAP32,ARHGAP32 EXON Missense_D1480N,Missense_D1131N exm969619 11 128842466 [T/C] NM_001142685,NM_014715 ARHGAP32,ARHGAP32 EXON Missense_R1298H,Missense_R949H exm969623 11 128842518 [A/C] NM_001142685,NM_014715 ARHGAP32,ARHGAP32 EXON Missense_D1281Y,Missense_D932Y exm969630 11 128842607 [A/G] NM_001142685,NM_014715 ARHGAP32,ARHGAP32 EXON Missense_S1251F,Missense_S902F exm969636 11 128842716 [A/G] NM_001142685,NM_014715 ARHGAP32,ARHGAP32 EXON Missense_S1215P,Missense_S866P exm969637 11 128842742 [T/C] NM_001142685,NM_014715 ARHGAP32,ARHGAP32 EXON Missense_R1206H,Missense_R857H exm1700301 11 128842743 [A/G] NM_001142685,NM_014715 ARHGAP32,ARHGAP32 EXON Missense_R1206C,Missense_R857C exm969643 11 128842906 [G/C] NM_001142685,NM_014715 ARHGAP32,ARHGAP32 EXON Missense_Q1151H,Missense_Q802H exm969647 11 128842940 [T/C] NM_001142685,NM_014715 ARHGAP32,ARHGAP32 EXON Missense_E1140G,Missense_E791G exm969672 11 128844255 [T/G] NM_001142685,NM_014715 ARHGAP32,ARHGAP32 EXON Missense_Q932P,Missense_Q583P exm969674 11 128844331 [A/T] NM_001142685,NM_014715 ARHGAP32,ARHGAP32 EXON Missense_I907L,Missense_I558L exm2249667 11 128844404 [A/G] NM_001142685,NM_014715 ARHGAP32,ARHGAP32 EXON Synonymous_S882S,Synonymous_S533S exm1700311 11 128844481 [A/G] NM_001142685,NM_014715 ARHGAP32,ARHGAP32 EXON Missense_P857S,Missense_P508S exm969681 11 128844513 [A/G] NM_001142685,NM_014715 ARHGAP32,ARHGAP32 EXON Missense_P846L,Missense_P497L exm969691 11 128846528 [A/G] NM_001142685,NM_014715 ARHGAP32,ARHGAP32 EXON Synonymous_G694G,Synonymous_G345G exm969699 11 128850539 [T/C] NM_001142685,NM_014715 ARHGAP32,ARHGAP32 EXON Missense_I615V,Missense_I266V exm1700322 11 128851396 [A/C] NM_001142685,NM_014715 ARHGAP32,ARHGAP32 EXON Missense_I551M,Missense_I202M exm969713 11 128856563 [A/G] NM_001142685,NM_014715 ARHGAP32,ARHGAP32 EXON Synonymous_R419R,Synonymous_R70R exm969729 11 128993344 [T/C] NM_001142685 ARHGAP32 EXON Missense_I133M exm969737 11 129034269 [T/C] NM_001142685 ARHGAP32 EXON Missense_H57R exm969743 11 129062059 [T/C] NM_001142685 ARHGAP32 EXON Missense_D12G exm2267241 11 129162711 [A/G] exm-rs7120238 11 129175013 [T/C] exm969752 11 129306648 [T/C] NM_003658 BARX2 EXON Missense_S64P exm969758 11 129306720 [T/C] NM_003658 BARX2 EXON Missense_P88S exm969762 11 129306772 [T/C] NM_003658 BARX2 EXON Missense_A105V exm969788 11 129321130 [A/C] NM_003658 BARX2 EXON Missense_N225H exm969793 11 129321248 [T/C] NM_003658 BARX2 EXON Missense_P264L exm2271572 11 129654647 [T/G] exm969803 11 129722378 [T/A] NM_138788 TMEM45B EXON Missense_M1L exm969808 11 129722427 [T/C] NM_138788 TMEM45B EXON Missense_I17T exm969816 11 129722520 [T/C] NM_138788 TMEM45B EXON Missense_V48A exm969818 11 129722549 [A/G] NM_138788 TMEM45B EXON Missense_V58I exm969819 11 129722553 [T/C] NM_138788 TMEM45B EXON Missense_T59I exm969822 11 129724542 [A/C] NM_138788 TMEM45B EXON Missense_H72Q exm1700407 11 129724576 [T/G] NM_138788 TMEM45B EXON Missense_L84V exm969826 11 129724706 [T/C] NM_138788 TMEM45B EXON Missense_M127T exm969827 11 129725604 [T/G] NM_138788 TMEM45B EXON Synonymous_G129G exm969860 11 129734633 [A/G] NM_006165,NM_001143835 NFRKB,NFRKB EXON Missense_P1321L,Missense_P1296L exm969887 11 129739546 [T/C] NM_006165,NM_001143835 NFRKB,NFRKB EXON Missense_H1150R,Missense_H1125R exm969897 11 129739607 [T/C] NM_006165,NM_001143835 NFRKB,NFRKB EXON Missense_I1130V,Missense_I1105V exm969899 11 129739629 [T/C] NM_006165,NM_001143835 NFRKB,NFRKB EXON Missense_M1122I,Missense_M1097I exm969909 11 129739724 [T/C] NM_006165,NM_001143835 NFRKB,NFRKB EXON Missense_V1091M,Missense_V1066M exm969913 11 129739792 [T/C] NM_006165,NM_001143835 NFRKB,NFRKB EXON Missense_K1068R,Missense_K1043R exm969917 11 129739816 [A/G] NM_006165,NM_001143835 NFRKB,NFRKB EXON Missense_T1060I,Missense_T1035I exm969930 11 129742817 [T/C] NM_006165,NM_001143835 NFRKB,NFRKB EXON Missense_V934I,Missense_V909I exm1700438 11 129742837 [C/G] NM_006165,NM_001143835 NFRKB,NFRKB EXON Missense_P927R,Missense_P902R exm969936 11 129742954 [A/G] NM_006165,NM_001143835 NFRKB,NFRKB EXON Missense_T888M,Missense_T863M exm969954 11 129743891 [A/G] NM_006165,NM_001143835 NFRKB,NFRKB EXON Missense_P792S,Missense_P767S exm969976 11 129744775 [T/G] NM_006165,NM_001143835 NFRKB,NFRKB EXON Missense_H656N,Missense_H631N exm969995 11 129748228 [T/C] NM_006165,NM_001143835 NFRKB,NFRKB EXON Missense_D521G,Missense_D496G exm970014 11 129752064 [T/G] NM_006165,NM_001143835 NFRKB,NFRKB EXON Missense_L395I,Missense_L370I exm970019 11 129752394 [T/G] NM_006165,NM_001143835 NFRKB,NFRKB EXON Missense_P370H,Missense_P345H exm970024 11 129753068 [A/G] NM_006165,NM_001143835 NFRKB,NFRKB EXON Missense_L309F,Missense_L284F exm970033 11 129754657 [A/G] NM_006165,NM_001143835 NFRKB,NFRKB EXON Missense_T267M,Missense_T242M exm970046 11 129755458 [T/C] NM_006165,NM_001143835 NFRKB,NFRKB EXON Missense_R184Q,Missense_R171Q exm970055 11 129756261 [T/C] NM_006165,NM_001143835 NFRKB,NFRKB EXON Missense_Q152R,Missense_Q139R exm970057 11 129756338 [A/G] NM_006165,NM_001143835 NFRKB,NFRKB EXON Synonymous_D126D,Synonymous_D113D exm970062 11 129758536 [T/C] NM_006165,NM_001143835 NFRKB,NFRKB EXON Missense_N110S,Missense_N97S exm970084 11 129775534 [A/G] NM_199439,NM_199437,NM_199438,NM_020228 PRDM10,PRDM10,PRDM10,PRDM10 EXON Missense_S956L,Missense_S1089L,Missense_S994L,Missense_S1093L exm970092 11 129780436 [T/G] NM_199439,NM_199437,NM_199438,NM_020228 PRDM10,PRDM10,PRDM10,PRDM10 EXON Missense_Q900P,Missense_Q1033P,Missense_Q938P,Missense_Q1037P exm970094 11 129780494 [A/T] NM_199439,NM_199437,NM_199438,NM_020228 PRDM10,PRDM10,PRDM10,PRDM10 EXON Missense_S881T,Missense_S1014T,Missense_S919T,Missense_S1018T exm970098 11 129780535 [A/G] NM_199439,NM_199437,NM_199438,NM_020228 PRDM10,PRDM10,PRDM10,PRDM10 EXON Missense_L867S,Missense_L1000S,Missense_L905S,Missense_L1004S exm970107 11 129782042 [T/C] NM_199439,NM_199437,NM_199438,NM_020228 PRDM10,PRDM10,PRDM10,PRDM10 EXON Silent,Missense_A974T,Missense_A892T,Missense_A978T exm970110 11 129784600 [A/G] NM_199439,NM_199437,NM_199438,NM_020228 PRDM10,PRDM10,PRDM10,PRDM10 EXON Missense_S861L,Missense_S947L,Missense_S865L,Missense_S951L exm2249671 11 129784656 [T/C] NM_199439,NM_199437,NM_199438,NM_020228 PRDM10,PRDM10,PRDM10,PRDM10 EXON Synonymous_S842S,Synonymous_S928S,Synonymous_S846S,Synonymous_S932S exm970111 11 129784656 [T/C] NM_199439,NM_199437,NM_199438,NM_020228 PRDM10,PRDM10,PRDM10,PRDM10 EXON Synonymous_S842S,Synonymous_S928S,Synonymous_S846S,Synonymous_S932S exm970126 11 129785583 [A/G] NM_199439,NM_199437,NM_199438,NM_020228 PRDM10,PRDM10,PRDM10,PRDM10 EXON Missense_P747L,Missense_P833L,Missense_P751L,Missense_P837L exm970138 11 129788521 [G/C] NM_199439,NM_199437,NM_199438,NM_020228 PRDM10,PRDM10,PRDM10,PRDM10 EXON Missense_F623L,Missense_F709L,Missense_F627L,Missense_F713L exm970140 11 129788543 [T/C] NM_199439,NM_199437,NM_199438,NM_020228 PRDM10,PRDM10,PRDM10,PRDM10 EXON Missense_R616H,Missense_R702H,Missense_R620H,Missense_R706H exm970150 11 129794871 [T/C] NM_199439,NM_199437,NM_199438,NM_020228 PRDM10,PRDM10,PRDM10,PRDM10 EXON Missense_R509H,Missense_R595H,Missense_R513H,Missense_R599H exm970154 11 129794950 [T/C] NM_199439,NM_199437,NM_199438,NM_020228 PRDM10,PRDM10,PRDM10,PRDM10 EXON Missense_T483A,Missense_T569A,Missense_T487A,Missense_T573A exm970156 11 129795006 [T/C] NM_199439,NM_199437,NM_199438,NM_020228 PRDM10,PRDM10,PRDM10,PRDM10 EXON Missense_R464Q,Missense_R550Q,Missense_R468Q,Missense_R554Q exm970159 11 129795097 [A/G] NM_199439,NM_199437,NM_199438,NM_020228 PRDM10,PRDM10,PRDM10,PRDM10 EXON Missense_R434W,Missense_R520W,Missense_R438W,Missense_R524W exm970161 11 129800942 [G/C] NM_199439,NM_199437,NM_199438,NM_020228 PRDM10,PRDM10,PRDM10,PRDM10 EXON Missense_A414G,Missense_A500G,Missense_A414G,Missense_A500G exm970168 11 129801135 [T/C] NM_199439,NM_199437,NM_199438,NM_020228 PRDM10,PRDM10,PRDM10,PRDM10 EXON Missense_T350A,Missense_T436A,Missense_T350A,Missense_T436A exm1700555 11 129812490 [A/T] NM_199439,NM_199437,NM_199438,NM_020228 PRDM10,PRDM10,PRDM10,PRDM10 EXON Missense_D180V,Missense_D266V,Missense_D180V,Missense_D266V exm970222 11 129817175 [T/C] NM_199439,NM_199437,NM_199438,NM_020228 PRDM10,PRDM10,PRDM10,PRDM10 EXON Missense_R43G,Missense_R129G,Missense_R43G,Missense_R129G exm970224 11 129817205 [A/G] NM_199439,NM_199437,NM_199438,NM_020228 PRDM10,PRDM10,PRDM10,PRDM10 EXON Missense_P33S,Missense_P119S,Missense_P33S,Missense_P119S exm970225 11 129817208 [T/C] NM_199439,NM_199437,NM_199438,NM_020228 PRDM10,PRDM10,PRDM10,PRDM10 EXON Missense_D32N,Missense_D118N,Missense_D32N,Missense_D118N exm970229 11 129817295 [T/C] NM_199439,NM_199437,NM_199438,NM_020228 PRDM10,PRDM10,PRDM10,PRDM10 EXON Missense_A3T,Silent,Missense_A3T,Silent exm970236 11 129827700 [A/T] NM_199437,NM_020228 PRDM10,PRDM10 EXON Missense_T59S,Missense_T59S exm970239 11 129827738 [T/G] NM_199437,NM_020228 PRDM10,PRDM10 EXON Missense_P46Q,Missense_P46Q exm970242 11 129830796 [T/C] NM_199437,NM_020228 PRDM10,PRDM10 EXON Missense_A22T,Missense_A22T exm2267302 11 129832270 [A/G] NM_199437,NM_020228 PRDM10,PRDM10 Silent,Silent exm970262 11 129979475 [T/A] NM_001142278,NM_001142277,NR_024516,NR_024515,NM_001642,NM_001142276,NM_001243299 APLP2,APLP2,APLP2,APLP2,APLP2,APLP2,APLP2 EXON Missense_E86V,Missense_E86V,Silent,Silent,Missense_E86V,Missense_E86V,Missense_E96V exm970263 11 129979476 [A/T] NM_001142278,NM_001142277,NR_024516,NR_024515,NM_001642,NM_001142276,NM_001243299 APLP2,APLP2,APLP2,APLP2,APLP2,APLP2,APLP2 EXON Missense_E86D,Missense_E86D,Silent,Silent,Missense_E86D,Missense_E86D,Missense_E96D exm970271 11 129980548 [A/C] NM_001142278,NM_001142277,NR_024516,NR_024515,NM_001642,NM_001142276,NM_001243299 APLP2,APLP2,APLP2,APLP2,APLP2,APLP2,APLP2 EXON Missense_K132T,Missense_K132T,Silent,Silent,Missense_K132T,Missense_K132T,Missense_K142T exm970272 11 129980555 [T/C] NM_001142278,NM_001142277,NR_024516,NR_024515,NM_001642,NM_001142276,NM_001243299 APLP2,APLP2,APLP2,APLP2,APLP2,APLP2,APLP2 EXON Synonymous_L134L,Synonymous_L134L,Silent,Silent,Synonymous_L134L,Synonymous_L134L,Synonymous_L144L exm970282 11 129991563 [A/G] NM_001142278,NM_001142277,NR_024516,NR_024515,NM_001642,NM_001142276,NM_001243299 APLP2,APLP2,APLP2,APLP2,APLP2,APLP2,APLP2 EXON Silent,Missense_G191R,Silent,Silent,Missense_G191R,Missense_G191R,Missense_G201R exm1700594 11 129991572 [G/C] NM_001142278,NM_001142277,NR_024516,NR_024515,NM_001642,NM_001142276,NM_001243299 APLP2,APLP2,APLP2,APLP2,APLP2,APLP2,APLP2 EXON Silent,Missense_Q194E,Silent,Silent,Missense_Q194E,Missense_Q194E,Missense_Q204E exm970283 11 129991606 [A/G] NM_001142278,NM_001142277,NR_024516,NR_024515,NM_001642,NM_001142276,NM_001243299 APLP2,APLP2,APLP2,APLP2,APLP2,APLP2,APLP2 EXON Silent,Missense_Q205R,Silent,Silent,Missense_Q205R,Missense_Q205R,Missense_Q215R exm970290 11 129991670 [T/G] NM_001142278,NM_001142277,NR_024516,NR_024515,NM_001642,NM_001142276,NM_001243299 APLP2,APLP2,APLP2,APLP2,APLP2,APLP2,APLP2 EXON Silent,Missense_E226D,Silent,Silent,Missense_E226D,Missense_E226D,Missense_E236D exm970291 11 129991676 [T/G] NM_001142278,NM_001142277,NR_024516,NR_024515,NM_001642,NM_001142276,NM_001243299 APLP2,APLP2,APLP2,APLP2,APLP2,APLP2,APLP2 EXON Silent,Missense_D228E,Silent,Silent,Missense_D228E,Missense_D228E,Missense_D238E exm2249672 11 129992314 [T/C] NM_001142278,NM_001142277,NR_024516,NR_024515,NM_001642,NM_001142276,NM_001243299 APLP2,APLP2,APLP2,APLP2,APLP2,APLP2,APLP2 EXON Silent,Synonymous_D276D,Silent,Silent,Synonymous_D276D,Synonymous_D276D,Synonymous_D286D exm1700598 11 129992369 [A/G] NM_001142278,NM_001142277,NR_024516,NR_024515,NM_001642,NM_001142276,NM_001243299 APLP2,APLP2,APLP2,APLP2,APLP2,APLP2,APLP2 EXON Silent,Missense_G295S,Silent,Silent,Missense_G295S,Missense_G295S,Missense_G305S exm1700602 11 129993553 [A/G] NM_001142278,NM_001142277,NR_024516,NR_024515,NM_001642,NM_001142276,NM_001243299 APLP2,APLP2,APLP2,APLP2,APLP2,APLP2,APLP2 EXON Silent,Silent,Silent,Silent,Missense_M323I,Missense_M323I,Missense_M333I exm970302 11 129993558 [A/G] NM_001142278,NM_001142277,NR_024516,NR_024515,NM_001642,NM_001142276,NM_001243299 APLP2,APLP2,APLP2,APLP2,APLP2,APLP2,APLP2 EXON Silent,Silent,Silent,Silent,Missense_R325H,Missense_R325H,Missense_R335H exm970304 11 129993635 [C/G] NM_001142278,NM_001142277,NR_024516,NR_024515,NM_001642,NM_001142276,NM_001243299 APLP2,APLP2,APLP2,APLP2,APLP2,APLP2,APLP2 EXON Silent,Silent,Silent,Silent,Missense_E351Q,Missense_E351Q,Missense_E361Q exm970318 11 129998979 [A/G] NM_001142278,NM_001142277,NR_024516,NR_024515,NM_001642,NM_001142276,NM_001243299 APLP2,APLP2,APLP2,APLP2,APLP2,APLP2,APLP2 EXON Missense_A216T,Missense_A389T,Silent,Silent,Missense_A445T,Missense_A445T,Missense_A455T exm970328 11 129999940 [A/G] NM_001142278,NM_001142277,NR_024516,NR_024515,NM_001642,NM_001142276,NM_001243299 APLP2,APLP2,APLP2,APLP2,APLP2,APLP2,APLP2 EXON Missense_R259H,Missense_R432H,Silent,Silent,Missense_R488H,Missense_R488H,Missense_R498H exm970330 11 129999960 [T/C] NM_001142278,NM_001142277,NR_024516,NR_024515,NM_001642,NM_001142276,NM_001243299 APLP2,APLP2,APLP2,APLP2,APLP2,APLP2,APLP2 EXON Missense_R266C,Missense_R439C,Silent,Silent,Missense_R495C,Missense_R495C,Missense_R505C exm970331 11 129999970 [A/G] NM_001142278,NM_001142277,NR_024516,NR_024515,NM_001642,NM_001142276,NM_001243299 APLP2,APLP2,APLP2,APLP2,APLP2,APLP2,APLP2 EXON Missense_R269H,Missense_R442H,Silent,Silent,Missense_R498H,Missense_R498H,Missense_R508H exm970332 11 130000002 [T/C] NM_001142278,NM_001142277,NR_024516,NR_024515,NM_001642,NM_001142276,NM_001243299 APLP2,APLP2,APLP2,APLP2,APLP2,APLP2,APLP2 EXON Missense_R280C,Missense_R453C,Silent,Silent,Missense_R509C,Missense_R509C,Missense_R519C exm970338 11 130005478 [T/C] NM_001142278,NM_001142277,NR_024516,NR_024515,NM_001642,NM_001142276,NM_001243299 APLP2,APLP2,APLP2,APLP2,APLP2,APLP2,APLP2 EXON Missense_R340C,Missense_R513C,Silent,Silent,Missense_R569C,Missense_R569C,Missense_R579C exm970348 11 130007153 [A/G] NM_001142278,NM_001142277,NR_024516,NR_024515,NM_001642,NM_001142276,NM_001243299 APLP2,APLP2,APLP2,APLP2,APLP2,APLP2,APLP2 EXON Silent,Silent,Silent,Silent,Missense_T614A,Silent,Silent exm970351 11 130010313 [A/G] NM_001142278,NM_001142277,NR_024516,NR_024515,NM_001642,NM_001142276,NM_001243299 APLP2,APLP2,APLP2,APLP2,APLP2,APLP2,APLP2 EXON Missense_D391N,Missense_D564N,Silent,Silent,Missense_D632N,Missense_D620N,Missense_D630N exm1700636 11 130010328 [A/G] NM_001142278,NM_001142277,NR_024516,NR_024515,NM_001642,NM_001142276,NM_001243299 APLP2,APLP2,APLP2,APLP2,APLP2,APLP2,APLP2 EXON Missense_G396S,Missense_G569S,Silent,Silent,Missense_G637S,Missense_G625S,Missense_G635S exm970394 11 130058057 [A/G] NM_021978 ST14 EXON Missense_V44I exm970400 11 130058437 [A/G] NM_021978 ST14 EXON Missense_R85H exm970409 11 130059647 [A/G] NM_021978 ST14 EXON Missense_I152V exm970412 11 130059701 [A/G] NM_021978 ST14 EXON Missense_E170K exm970414 11 130059705 [A/G] NM_021978 ST14 EXON Missense_R171H exm970417 11 130059743 [T/C] NM_021978 ST14 EXON Missense_R184W exm1700679 11 130060453 [A/G] NM_021978 ST14 EXON Missense_A247T exm970434 11 130060544 [T/C] NM_021978 ST14 EXON Missense_T277M exm970437 11 130060569 [A/G] NM_021978 ST14 EXON Missense_M285I exm970444 11 130064099 [A/G] NM_021978 ST14 EXON Missense_V311I exm970451 11 130064567 [A/G] NM_021978 ST14 EXON Missense_T350A exm970469 11 130066523 [T/C] NM_021978 ST14 EXON Missense_R428C exm970475 11 130066582 [T/C] NM_021978 ST14 EXON Synonymous_Y447Y exm2249673 11 130066582 [T/C] NM_021978 ST14 EXON Synonymous_Y447Y exm1700704 11 130067789 [T/C] NM_021978 ST14 EXON Missense_R470C exm970481 11 130067814 [T/C] NM_021978 ST14 EXON Missense_T478I exm970496 11 130068409 [T/C] NM_021978 ST14 EXON Missense_P526L exm1700718 11 130068884 [A/G] NM_021978 ST14 EXON Missense_N576S exm970505 11 130068886 [A/G] NM_021978 ST14 EXON Missense_G577R exm970508 11 130068943 [A/G] NM_021978 ST14 EXON Missense_G596S exm970509 11 130068963 [T/C] NM_021978 ST14 EXON Synonymous_C602C exm970532 11 130078474 [G/C] NM_021978 ST14 EXON Missense_E722Q exm970536 11 130078541 [T/C] NM_021978 ST14 EXON Missense_A744V exm970540 11 130079424 [T/C] NM_021978 ST14 EXON Missense_P786L exm2274548 11 130109776 [G/C] NM_014155 ZBTB44 EXON Missense_G345A exm970579 11 130130937 [T/C] NM_014155 ZBTB44 EXON Missense_T278A exm1700742 11 130131026 [A/G] NM_014155 ZBTB44 EXON Missense_A248V exm970584 11 130131073 [T/A] NM_014155 ZBTB44 EXON Missense_F232L exm970593 11 130131327 [T/C] NM_014155 ZBTB44 EXON Missense_N148D exm970598 11 130131565 [T/G] NM_014155 ZBTB44 EXON Missense_N68K exm2267242 11 130247700 [A/G] exm970608 11 130275533 [T/C] NM_007037 ADAMTS8 EXON Missense_G864S exm970618 11 130275677 [A/T] NM_007037 ADAMTS8 EXON Missense_M816L exm970621 11 130275749 [T/C] NM_007037 ADAMTS8 EXON Missense_T792A exm970637 11 130276014 [T/G] NM_007037 ADAMTS8 EXON Nonsense_Y703X exm970645 11 130278443 [A/G] NM_007037 ADAMTS8 EXON Missense_S672L exm970653 11 130278697 [T/C] NM_007037 ADAMTS8 EXON Missense_R630Q exm2276218 11 130278728 [A/G] NM_007037 ADAMTS8 EXON Missense_R620W exm970658 11 130278773 [T/C] NM_007037 ADAMTS8 EXON Missense_G605R exm970670 11 130281488 [A/G] NM_007037 ADAMTS8 EXON Missense_A525V exm970685 11 130284596 [T/C] NM_007037 ADAMTS8 EXON Missense_T466A exm970686 11 130284610 [T/C] NM_007037 ADAMTS8 EXON Missense_R461H exm970688 11 130284628 [T/A] NM_007037 ADAMTS8 EXON Missense_I455N exm970691 11 130284668 [A/G] NM_007037 ADAMTS8 EXON Missense_R442C exm970694 11 130286105 [G/C] NM_007037 ADAMTS8 EXON Missense_S406C exm970697 11 130286151 [T/C] NM_007037 ADAMTS8 EXON Missense_V391M exm970703 11 130286880 [T/C] NM_007037 ADAMTS8 EXON Missense_E351K exm970710 11 130288974 [T/C] NM_007037 ADAMTS8 EXON Missense_D312N exm970714 11 130289012 [T/C] NM_007037 ADAMTS8 EXON Missense_R299H exm970723 11 130289168 [A/G] NM_007037 ADAMTS8 EXON Missense_M247T exm970759 11 130319106 [T/G] NM_139055 ADAMTS15 EXON Missense_S80A exm970760 11 130319145 [C/G] NM_139055 ADAMTS15 EXON Missense_G93R exm970773 11 130319290 [A/G] NM_139055 ADAMTS15 EXON Missense_N141S exm970780 11 130319571 [A/G] NM_139055 ADAMTS15 EXON Missense_G235S exm970782 11 130319637 [A/G] NM_139055 ADAMTS15 EXON Missense_S257G exm970796 11 130332143 [A/G] NM_139055 ADAMTS15 EXON Missense_G418R exm970800 11 130332457 [T/C] NM_139055 ADAMTS15 EXON Missense_Y442H exm970804 11 130332547 [A/G] NM_139055 ADAMTS15 EXON Missense_G472R exm970805 11 130332577 [A/C] NM_139055 ADAMTS15 EXON Missense_T482P exm970806 11 130332580 [T/C] NM_139055 ADAMTS15 EXON Missense_R483C exm1700818 11 130332640 [A/G] NM_139055 ADAMTS15 EXON Missense_A503T exm970827 11 130339319 [A/C] NM_139055 ADAMTS15 EXON Missense_P569T exm970829 11 130340817 [T/G] NM_139055 ADAMTS15 EXON Missense_S575A exm970831 11 130340839 [A/G] NM_139055 ADAMTS15 EXON Missense_E582G exm970843 11 130340962 [A/G] NM_139055 ADAMTS15 EXON Missense_N623S exm970849 11 130341170 [G/C] NM_139055 ADAMTS15 EXON Missense_A657G exm2249675 11 130341207 [T/C] NM_139055 ADAMTS15 EXON Synonymous_F669F exm970866 11 130343094 [T/C] NM_139055 ADAMTS15 EXON Missense_S744L exm970879 11 130343291 [T/G] NM_139055 ADAMTS15 EXON Missense_S810A exm970880 11 130343306 [T/C] NM_139055 ADAMTS15 EXON Missense_P815S exm970883 11 130343357 [A/G] NM_139055 ADAMTS15 EXON Missense_V832M exm970906 11 130343640 [A/G] NM_139055 ADAMTS15 EXON Missense_R926Q exm2249676 11 130417573 [A/G] exm2267303 11 130639678 [A/G] exm970933 11 130750592 [A/G] NM_014758 SNX19 EXON Missense_R895W exm970935 11 130750642 [A/C] NM_014758 SNX19 EXON Missense_L878R exm970946 11 130773241 [C/G] NM_014758 SNX19 EXON Missense_L828V exm970953 11 130776027 [T/G] NM_014758 SNX19 EXON Missense_E755A exm970954 11 130776524 [T/C] NM_014758 SNX19 EXON Missense_N753S exm970962 11 130777903 [C/G] NM_014758 SNX19 EXON Missense_L704V exm970974 11 130780032 [T/G] NM_014758 SNX19 EXON Missense_Q639K exm970975 11 130780225 [A/C] NM_014758 SNX19 EXON Missense_L618F exm970990 11 130784220 [T/C] NM_014758 SNX19 EXON Missense_I539V exm970999 11 130784396 [A/G] NM_014758 SNX19 EXON Missense_P480L exm971010 11 130784589 [A/C] NM_014758 SNX19 EXON Missense_G416C exm971016 11 130784647 [G/C] NM_014758 SNX19 EXON Missense_D396E exm971019 11 130784694 [T/C] NM_014758 SNX19 EXON Missense_G381S exm971024 11 130784828 [A/G] NM_014758 SNX19 EXON Missense_V336A exm971025 11 130784835 [T/C] NM_014758 SNX19 EXON Missense_E334K exm1700892 11 130784838 [A/G] NM_014758 SNX19 EXON Missense_H333Y exm971028 11 130784886 [T/C] NM_014758 SNX19 EXON Missense_S317G exm971036 11 130785080 [T/C] NM_014758 SNX19 EXON Missense_S252N exm2218295 11 130785326 [A/G] NM_014758 SNX19 EXON Missense_I170T exm971049 11 130785386 [T/C] NM_014758 SNX19 EXON Missense_D150G exm971053 11 130785525 [A/G] NM_014758 SNX19 EXON Missense_R104C exm971060 11 130785593 [A/C] NM_014758 SNX19 EXON Missense_R81L exm2259721 11 131088026 [A/G] exm2271573 11 131117445 [T/C] exm971088 11 131240743 [C/G] NM_001048209 NTM EXON Missense_W14C exm-rs1550976 11 131320070 [T/C] NM_001048209 NTM Silent exm2249679 11 131665483 [T/C] NM_001048209 NTM Silent exm971146 11 132204951 [A/G] NM_001048209,NM_016522,NM_001144058 NTM,NTM,NTM EXON Missense_V316I,Missense_V316I,Missense_V327I exm971148 11 132204964 [A/G] NM_001048209,NM_016522,NM_001144058 NTM,NTM,NTM EXON Missense_S320N,Missense_S320N,Missense_S331N exm971150 11 132204976 [T/C] NM_001048209,NM_016522,NM_001144058 NTM,NTM,NTM EXON Missense_S324L,Missense_S324L,Missense_S335L exm971151 11 132204993 [A/G] NM_001048209,NM_016522,NM_001144058 NTM,NTM,NTM EXON Missense_V330I,Missense_V330I,Missense_V341I exm971152 11 132205008 [T/C] NM_001048209,NM_016522,NM_001144058 NTM,NTM,NTM EXON Missense_L335F,Missense_L335F,Missense_L346F exm2267244 11 132274000 [A/G] exm971167 11 132306610 [T/C] NM_001012393,NM_002545 OPCML,OPCML EXON Missense_S236N,Missense_S243N exm2271658 11 132320394 [T/C] NM_001012393,NM_002545 OPCML,OPCML Silent,Silent exm2271575 11 132529497 [T/C] NM_001012393,NM_002545 OPCML,OPCML Silent,Silent exm-rs10750523 11 132886373 [T/C] NM_001012393 OPCML Silent exm2271576 11 133037027 [T/G] NM_001012393 OPCML Silent exm2259724 11 133334522 [A/C] NM_001012393 OPCML Silent exm971206 11 133402195 [A/C] NM_001012393 OPCML EXON Missense_V9F exm-rs713279 11 133563309 [A/C] exm-rs4397868 11 133566985 [T/C] exm971245 11 133714148 [T/C] NM_174927 SPATA19 EXON Missense_R118G exm1701179 11 133714472 [T/C] NM_174927 SPATA19 EXON Missense_V67I exm971250 11 133714474 [T/C] NM_174927 SPATA19 EXON Missense_G66D exm971252 11 133714522 [A/G] NM_174927 SPATA19 EXON Missense_A50V exm971264 11 133715280 [A/T] NM_174927 SPATA19 EXON Missense_L21Q exm2271577 11 133760651 [T/G] exm971271 11 133788992 [T/C] NM_014987 IGSF9B EXON Missense_Q1331R exm971272 11 133789656 [G/C] NM_014987 IGSF9B EXON Missense_P1322A exm971275 11 133789673 [C/G] NM_014987 IGSF9B EXON Missense_R1316P exm971282 11 133789785 [T/C] NM_014987 IGSF9B EXON Missense_A1279T exm971283 11 133789790 [C/G] NM_014987 IGSF9B EXON Missense_T1277S exm971304 11 133790075 [T/C] NM_014987 IGSF9B EXON Missense_R1182Q exm971305 11 133790079 [A/G] NM_014987 IGSF9B EXON Missense_P1181S exm971318 11 133790276 [A/G] NM_014987 IGSF9B EXON Missense_A1115V exm971326 11 133790477 [G/C] NM_014987 IGSF9B EXON Missense_G1048A exm971352 11 133790879 [A/G] NM_014987 IGSF9B EXON Missense_P914L exm971380 11 133792472 [T/C] NM_014987 IGSF9B EXON Missense_R758H exm971381 11 133792484 [T/C] NM_014987 IGSF9B EXON Missense_R754H exm971385 11 133792601 [G/C] NM_014987 IGSF9B EXON Missense_T715S exm971390 11 133795672 [T/C] NM_014987 IGSF9B EXON Missense_G666S exm971405 11 133800880 [A/G] NM_014987 IGSF9B EXON Synonymous_I506I exm971418 11 133801975 [A/C] NM_014987 IGSF9B EXON Missense_Q367H exm971433 11 133805657 [A/G] NM_014987 IGSF9B EXON Synonymous_N274N exm971441 11 133807733 [A/G] NM_014987 IGSF9B EXON Missense_T178M exm971448 11 133814217 [T/C] NM_014987 IGSF9B EXON Missense_V103I exm2259726 11 133934517 [A/C] exm971471 11 133939021 [G/C] NM_001205329,NM_032801 JAM3,JAM3 EXON Missense_L15V,Missense_L15V exm971491 11 134014687 [T/G] NM_001205329,NM_032801 JAM3,JAM3 EXON Missense_V86G,Missense_V137G exm971497 11 134014726 [T/C] NM_001205329,NM_032801 JAM3,JAM3 EXON Missense_V99A,Missense_V150A exm971500 11 134014780 [A/G] NM_001205329,NM_032801 JAM3,JAM3 EXON Missense_R117Q,Missense_R168Q exm971513 11 134015841 [A/G] NM_001205329,NM_032801 JAM3,JAM3 EXON Missense_V154M,Missense_V205M exm971527 11 134018692 [C/G] NM_001205329,NM_032801 JAM3,JAM3 EXON Missense_N241K,Missense_N292K exm971528 11 134018699 [T/C] NM_001205329,NM_032801 JAM3,JAM3 EXON Missense_R244C,Missense_R295C exm971532 11 134018714 [T/G] NM_001205329,NM_032801 JAM3,JAM3 Silent,Silent exm971547 11 134022867 [T/C] NM_015261 NCAPD3 EXON Missense_R1490Q exm971549 11 134022906 [G/C] NM_015261 NCAPD3 EXON Missense_R1477T exm971552 11 134023042 [T/C] NM_015261 NCAPD3 EXON Missense_D1461N exm971559 11 134023081 [A/G] NM_015261 NCAPD3 EXON Missense_R1448W exm971570 11 134026944 [T/G] NM_015261 NCAPD3 EXON Missense_H1407Q exm971572 11 134026955 [T/C] NM_015261 NCAPD3 EXON Missense_E1404K exm971575 11 134027834 [A/G] NM_015261 NCAPD3 EXON Missense_T1388M exm971576 11 134027868 [A/G] NM_015261 NCAPD3 EXON Missense_P1377S exm971583 11 134027951 [A/G] NM_015261 NCAPD3 EXON Missense_L1349P exm971589 11 134028324 [T/C] NM_015261 NCAPD3 EXON Missense_V1312M exm971594 11 134028365 [A/G] NM_015261 NCAPD3 EXON Missense_P1298L exm971599 11 134029825 [T/C] NM_015261 NCAPD3 EXON Missense_G1277R exm971603 11 134029874 [G/C] NM_015261 NCAPD3 EXON Missense_Q1260H exm971611 11 134037976 [A/G] NM_015261 NCAPD3 EXON Missense_P1163L exm971612 11 134037977 [G/C] NM_015261 NCAPD3 EXON Missense_P1163A exm2218306 11 134038396 [T/C] NM_015261 NCAPD3 EXON Missense_N1114S exm2249686 11 134038853 [A/G] NM_015261 NCAPD3 EXON Synonymous_Y1066Y exm971641 11 134038949 [T/G] NM_015261 NCAPD3 EXON Missense_S1034R exm971643 11 134046212 [A/C] NM_015261 NCAPD3 EXON Missense_D1031Y exm971653 11 134047215 [T/C] NM_015261 NCAPD3 EXON Missense_I974V exm971656 11 134047248 [T/C] NM_015261 NCAPD3 EXON Missense_I963V exm971657 11 134047254 [T/C] NM_015261 NCAPD3 EXON Missense_V961I exm971661 11 134047319 [T/C] NM_015261 NCAPD3 EXON Missense_K939R exm971668 11 134048586 [T/G] NM_015261 NCAPD3 EXON Missense_Q909K exm971672 11 134048594 [A/G] NM_015261 NCAPD3 EXON Missense_P906L exm971677 11 134048740 [A/G] NM_015261 NCAPD3 EXON Missense_A884V exm971698 11 134054855 [A/C] NM_015261 NCAPD3 EXON Missense_C760G exm971700 11 134054876 [T/C] NM_015261 NCAPD3 EXON Missense_N753D exm971705 11 134055275 [T/C] NM_015261 NCAPD3 EXON Missense_R731K exm971709 11 134055323 [A/G] NM_015261 NCAPD3 EXON Missense_S715L exm971711 11 134055332 [A/G] NM_015261 NCAPD3 EXON Missense_T712M exm971721 11 134062648 [A/C] NM_015261 NCAPD3 EXON Missense_D661Y exm971724 11 134062675 [A/G] NM_015261 NCAPD3 EXON Missense_R652W exm971731 11 134062764 [T/C] NM_015261 NCAPD3 EXON Missense_R622Q exm971735 11 134063994 [C/G] NM_015261 NCAPD3 EXON Missense_L581V exm971736 11 134064008 [T/C] NM_015261 NCAPD3 EXON Missense_G576D exm971737 11 134064023 [T/G] NM_015261 NCAPD3 EXON Missense_H571P exm971749 11 134073037 [T/C] NM_015261 NCAPD3 EXON Missense_A509T exm971758 11 134073578 [A/G] NM_015261 NCAPD3 EXON Missense_S480L exm971761 11 134073605 [G/C] NM_015261 NCAPD3 EXON Missense_C471S exm971778 11 134076510 [T/C] NM_015261 NCAPD3 EXON Missense_A334T exm1701392 11 134076589 [T/C] NM_015261 NCAPD3 EXON Missense_I307M exm971785 11 134078805 [T/A] NM_015261 NCAPD3 EXON Missense_Y279N exm971794 11 134079341 [T/C] NM_015261 NCAPD3 EXON Missense_E200K exm971795 11 134080166 [G/C] NM_015261 NCAPD3 EXON Missense_E189Q exm971796 11 134080168 [A/G] NM_015261 NCAPD3 EXON Missense_I188T exm971797 11 134080193 [T/C] NM_015261 NCAPD3 EXON Missense_G180R exm971800 11 134080347 [A/G] NM_015261 NCAPD3 EXON Synonymous_G128G exm971805 11 134086955 [T/C] NM_015261 NCAPD3 EXON Missense_H86R exm-rs1031381 11 134088682 [A/G] NM_015261 NCAPD3 Silent exm971809 11 134090492 [T/C] NM_015261 NCAPD3 EXON Missense_A65T exm971810 11 134090560 [A/G] NM_015261 NCAPD3 EXON Missense_I42T exm971890 11 134119132 [A/G] NM_199297,NM_014174,NM_199298,NM_001037304,NM_001037305 THYN1,THYN1,THYN1,THYN1,THYN1 EXON Missense_H137Y,Missense_H137Y,Missense_H137Y,Missense_H137Y,Missense_H137Y exm971891 11 134119138 [A/G] NM_199297,NM_014174,NM_199298,NM_001037304,NM_001037305 THYN1,THYN1,THYN1,THYN1,THYN1 EXON Missense_P135S,Missense_P135S,Missense_P135S,Missense_P135S,Missense_P135S exm971897 11 134119777 [T/G] NM_199297,NM_014174,NM_199298,NM_001037304,NM_001037305 THYN1,THYN1,THYN1,THYN1,THYN1 EXON Missense_E110A,Missense_E110A,Missense_E110A,Missense_E110A,Missense_E110A exm971919 11 134123514 [G/C] NM_014384 ACAD8 EXON Missense_R7P exm971956 11 134128923 [G/C] NM_014384 ACAD8 EXON Missense_S171C exm971959 11 134128968 [A/G] NM_014384 ACAD8 EXON Missense_N186S exm971983 11 134131650 [A/G] NM_014384 ACAD8 EXON Missense_A320T exm971994 11 134132483 [A/G] NM_014384 ACAD8 EXON Missense_V388M exm972007 11 134147296 [A/G] NM_001080407 GLB1L3 EXON Missense_K34E exm972009 11 134147305 [A/G] NM_001080407 GLB1L3 EXON Missense_E37K exm972012 11 134147603 [T/G] NM_001080407 GLB1L3 EXON Missense_W53C exm972025 11 134151279 [T/C] NM_001080407 GLB1L3 EXON Missense_P124L exm972056 11 134179557 [T/G] NM_001080407 GLB1L3 EXON Missense_E333D exm972071 11 134182253 [C/G] NM_001080407 GLB1L3 EXON Missense_S433W exm972073 11 134182255 [T/C] NM_001080407 GLB1L3 EXON Missense_R434C exm972075 11 134182264 [A/G] NM_001080407 GLB1L3 EXON Missense_V437I exm972084 11 134182345 [A/G] NM_001080407 GLB1L3 EXON Missense_G464R exm972087 11 134182360 [C/G] NM_001080407 GLB1L3 EXON Missense_A469P exm972089 11 134182375 [A/G] NM_001080407 GLB1L3 EXON Missense_V474M exm972093 11 134183290 [A/G] NM_001080407 GLB1L3 EXON Missense_D501N exm972099 11 134183850 [T/C] NM_001080407 GLB1L3 EXON Missense_V532A exm972102 11 134183913 [T/C] NM_001080407 GLB1L3 EXON Missense_F553S exm972113 11 134188558 [T/C] NM_001080407 GLB1L3 EXON Missense_R605C exm2249687 11 134194937 [A/G] exm972120 11 134201992 [A/G] NM_138342 GLB1L2 EXON Missense_T13A exm972123 11 134212648 [T/G] NM_138342 GLB1L2 EXON Missense_R29S exm972126 11 134212682 [T/C] NM_138342 GLB1L2 EXON Missense_R41C exm972143 11 134215014 [A/G] NM_138342 GLB1L2 EXON Missense_G147D exm972153 11 134226201 [T/C] NM_138342 GLB1L2 EXON Missense_R189C exm972154 11 134226202 [A/G] NM_138342 GLB1L2 EXON Missense_R189H exm972158 11 134226244 [A/G] NM_138342 GLB1L2 EXON Missense_G203D exm972159 11 134226264 [A/G] NM_138342 GLB1L2 EXON Missense_A210T exm972168 11 134234269 [A/G] NM_138342 GLB1L2 EXON Missense_T261A exm972177 11 134237200 [T/C] NM_138342 GLB1L2 EXON Missense_S285L exm972182 11 134238536 [A/G] NM_138342 GLB1L2 Silent exm972184 11 134238573 [A/G] NM_138342 GLB1L2 EXON Missense_G309S exm972187 11 134238603 [A/G] NM_138342 GLB1L2 EXON Missense_G319R exm972200 11 134240285 [G/C] NM_138342 GLB1L2 EXON Missense_L403V exm972201 11 134240289 [A/G] NM_138342 GLB1L2 EXON Missense_G404E exm1701587 11 134241337 [T/C] NM_138342 GLB1L2 EXON Missense_I460T exm972236 11 134244872 [A/G] NM_138342 GLB1L2 EXON Missense_V611I exm972240 11 134244912 [T/C] NM_138342 GLB1L2 EXON Missense_T624M exm972270 11 134253984 [A/G] NM_054025,NM_018644 B3GAT1,B3GAT1 EXON Missense_Y71H,Missense_Y71H exm972276 11 134257453 [A/G] NM_054025,NM_018644 B3GAT1,B3GAT1 EXON Missense_A34V,Missense_A34V exm972279 11 134257487 [G/C] NM_054025,NM_018644 B3GAT1,B3GAT1 EXON Missense_V23L,Missense_V23L exm972280 11 134257523 [T/C] NM_054025,NM_018644 B3GAT1,B3GAT1 EXON Missense_V11I,Missense_V11I exm-rs4937920 11 134465744 [T/C] exm2271659 11 134638283 [T/C] exm2271578 11 134889485 [T/C] exm972321 12 234929 [T/C] NM_001170738,NM_015232 IQSEC3,IQSEC3 EXON Missense_R252W,Silent exm972329 12 235011 [T/C] NM_001170738,NM_015232 IQSEC3,IQSEC3 EXON Missense_T279M,Silent exm972330 12 235022 [T/C] NM_001170738,NM_015232 IQSEC3,IQSEC3 EXON Missense_P283S,Silent exm972352 12 247703 [A/G] NM_001170738,NM_015232,NR_033859 IQSEC3,IQSEC3,LOC574538 EXON Missense_A392T,Missense_A89T,Silent exm972368 12 248071 [C/G] NM_001170738,NM_015232,NR_033859 IQSEC3,IQSEC3,LOC574538 EXON Missense_Q514H,Missense_Q211H,Silent exm972374 12 248202 [C/G] NM_001170738,NM_015232,NR_033859 IQSEC3,IQSEC3,LOC574538 EXON Missense_A558G,Missense_A255G,Silent exm972385 12 250324 [T/C] NM_001170738,NM_015232,NR_033859 IQSEC3,IQSEC3,LOC574538 EXON Missense_R676C,Missense_R373C,Silent exm972389 12 250438 [T/C] NM_001170738,NM_015232,NR_033859 IQSEC3,IQSEC3,LOC574538 EXON Missense_R714C,Missense_R411C,Silent exm972394 12 266265 [A/G] NM_001170738,NM_015232 IQSEC3,IQSEC3 EXON Missense_R743H,Missense_R440H exm972406 12 271119 [A/G] NM_001170738,NM_015232 IQSEC3,IQSEC3 EXON Missense_R824K,Missense_R521K exm972411 12 271217 [A/G] NM_001170738,NM_015232 IQSEC3,IQSEC3 EXON Missense_V857M,Missense_V554M exm972412 12 271220 [A/G] NM_001170738,NM_015232 IQSEC3,IQSEC3 EXON Missense_G858S,Missense_G555S exm2250828 12 274647 [T/C] NM_001170738,NM_015232 IQSEC3,IQSEC3 EXON Synonymous_F919F,Synonymous_F616F exm972444 12 280468 [T/C] NM_001170738,NM_015232 IQSEC3,IQSEC3 EXON Silent,Missense_T754I exm972453 12 283892 [T/C] NM_001170738 IQSEC3 EXON Missense_P1081L exm2267309 12 299715 [A/G] NM_001122848,NM_001206931,NM_001122847,NM_003044 SLC6A12,SLC6A12,SLC6A12,SLC6A12 EXON Silent,Silent,Silent,Silent exm972476 12 300248 [C/G] NM_001122848,NM_001206931,NM_001122847,NM_003044 SLC6A12,SLC6A12,SLC6A12,SLC6A12 EXON Missense_E611Q,Missense_E611Q,Missense_E611Q,Missense_E611Q exm972477 12 300257 [T/C] NM_001122848,NM_001206931,NM_001122847,NM_003044 SLC6A12,SLC6A12,SLC6A12,SLC6A12 EXON Missense_G608R,Missense_G608R,Missense_G608R,Missense_G608R exm972480 12 300287 [A/G] NM_001122848,NM_001206931,NM_001122847,NM_003044 SLC6A12,SLC6A12,SLC6A12,SLC6A12 EXON Missense_P598S,Missense_P598S,Missense_P598S,Missense_P598S exm2250855 12 301665 [T/C] NM_001122848,NM_001206931,NM_001122847,NM_003044 SLC6A12,SLC6A12,SLC6A12,SLC6A12 EXON Synonymous_K560K,Synonymous_K560K,Synonymous_K560K,Synonymous_K560K exm972502 12 302492 [G/C] NM_001122848,NM_001206931,NM_001122847,NM_003044 SLC6A12,SLC6A12,SLC6A12,SLC6A12 EXON Missense_W494S,Missense_W494S,Missense_W494S,Missense_W494S exm972508 12 302540 [A/G] NM_001122848,NM_001206931,NM_001122847,NM_003044 SLC6A12,SLC6A12,SLC6A12,SLC6A12 EXON Missense_A478V,Missense_A478V,Missense_A478V,Missense_A478V exm972523 12 305949 [T/C] NM_001122848,NM_001206931,NM_001122847,NM_003044 SLC6A12,SLC6A12,SLC6A12,SLC6A12 EXON Missense_G392E,Missense_G392E,Missense_G392E,Missense_G392E exm972528 12 306028 [T/C] NM_001122848,NM_001206931,NM_001122847,NM_003044 SLC6A12,SLC6A12,SLC6A12,SLC6A12 EXON Missense_A366T,Missense_A366T,Missense_A366T,Missense_A366T exm972532 12 306549 [T/C] NM_001122848,NM_001206931,NM_001122847,NM_003044 SLC6A12,SLC6A12,SLC6A12,SLC6A12 EXON Missense_E357K,Missense_E357K,Missense_E357K,Missense_E357K exm972554 12 309921 [T/C] NM_001122848,NM_001206931,NM_001122847,NM_003044 SLC6A12,SLC6A12,SLC6A12,SLC6A12 EXON Missense_I203V,Missense_I203V,Missense_I203V,Missense_I203V exm972560 12 311006 [A/G] NM_001122848,NM_001206931,NM_001122847,NM_003044 SLC6A12,SLC6A12,SLC6A12,SLC6A12 EXON Missense_T167M,Missense_T167M,Missense_T167M,Missense_T167M exm972567 12 311924 [T/C] NM_001122848,NM_001206931,NM_001122847,NM_003044 SLC6A12,SLC6A12,SLC6A12,SLC6A12 EXON Missense_N158D,Missense_N158D,Missense_N158D,Missense_N158D exm972575 12 313824 [A/G] NM_001122848,NM_001206931,NM_001122847,NM_003044 SLC6A12,SLC6A12,SLC6A12,SLC6A12 EXON Synonymous_C85C,Synonymous_C85C,Synonymous_C85C,Synonymous_C85C exm972584 12 319095 [T/C] NM_001122848,NM_001206931,NM_001122847,NM_003044 SLC6A12,SLC6A12,SLC6A12,SLC6A12 EXON Missense_E20K,Missense_E20K,Missense_E20K,Missense_E20K exm972588 12 319124 [T/C] NM_001122848,NM_001206931,NM_001122847,NM_003044 SLC6A12,SLC6A12,SLC6A12,SLC6A12 EXON Missense_C10Y,Missense_C10Y,Missense_C10Y,Missense_C10Y exm972589 12 319125 [A/G] NM_001122848,NM_001206931,NM_001122847,NM_003044 SLC6A12,SLC6A12,SLC6A12,SLC6A12 EXON Missense_C10R,Missense_C10R,Missense_C10R,Missense_C10R exm972593 12 330167 [T/C] NM_001190997,NM_016615 SLC6A13,SLC6A13 EXON Missense_A494T,Missense_A586T exm972594 12 330175 [G/C] NM_001190997,NM_016615 SLC6A13,SLC6A13 EXON Missense_S491W,Missense_S583W exm972595 12 330179 [T/G] NM_001190997,NM_016615 SLC6A13,SLC6A13 EXON Missense_P490T,Missense_P582T exm972600 12 330229 [T/C] NM_001190997,NM_016615 SLC6A13,SLC6A13 EXON Missense_R473H,Missense_R565H exm972608 12 330613 [C/G] NM_001190997,NM_016615 SLC6A13,SLC6A13 EXON Missense_L447V,Missense_L539V exm972621 12 331772 [T/C] NM_001190997,NM_016615 SLC6A13,SLC6A13 EXON Missense_E389K,Missense_E481K exm972622 12 331781 [T/C] NM_001190997,NM_016615 SLC6A13,SLC6A13 EXON Missense_D386N,Missense_D478N exm972626 12 332299 [A/G] NM_001190997,NM_016615 SLC6A13,SLC6A13 EXON Synonymous_Y379Y,Synonymous_Y471Y exm972629 12 332337 [T/C] NM_001190997,NM_016615 SLC6A13,SLC6A13 EXON Missense_V367M,Missense_V459M exm2250880 12 332341 [C/G] NM_001190997,NM_016615 SLC6A13,SLC6A13 EXON Synonymous_L365L,Synonymous_L457L exm2271818 12 332860 [T/C] NM_001190997,NM_016615 SLC6A13,SLC6A13 Silent,Silent exm1768456 12 333184 [T/G] NM_001190997,NM_016615 SLC6A13,SLC6A13 EXON Missense_L337I,Missense_L429I exm972636 12 333193 [T/C] NM_001190997,NM_016615 SLC6A13,SLC6A13 EXON Missense_V334I,Missense_V426I exm972640 12 333225 [T/C] NM_001190997,NM_016615 SLC6A13,SLC6A13 EXON Missense_R323Q,Missense_R415Q exm972641 12 333226 [A/G] NM_001190997,NM_016615 SLC6A13,SLC6A13 EXON Missense_R323W,Missense_R415W exm972642 12 333238 [A/G] NM_001190997,NM_016615 SLC6A13,SLC6A13 EXON Missense_R319C,Missense_R411C exm972653 12 333650 [A/G] NM_001190997,NM_016615 SLC6A13,SLC6A13 EXON Missense_R272W,Missense_R364W exm972655 12 333652 [A/G] NM_001190997,NM_016615 SLC6A13,SLC6A13 EXON Missense_P271L,Missense_P363L exm972662 12 335631 [T/C] NM_001190997,NM_016615 SLC6A13,SLC6A13 EXON Missense_G237S,Missense_G329S exm2250891 12 344274 [G/C] NM_001190997,NM_016615 SLC6A13,SLC6A13 EXON Synonymous_T179T,Synonymous_T271T exm972677 12 344275 [A/G] NM_001190997,NM_016615 SLC6A13,SLC6A13 EXON Missense_T179M,Missense_T271M exm972696 12 346454 [T/C] NM_001190997,NM_016615 SLC6A13,SLC6A13 EXON Missense_R97Q,Missense_R189Q exm972701 12 347102 [T/C] NM_001190997,NM_016615 SLC6A13,SLC6A13 EXON Missense_E93K,Missense_E185K exm972703 12 347147 [T/C] NM_001190997,NM_016615 SLC6A13,SLC6A13 EXON Missense_G78S,Missense_G170S exm-rs10774021 12 349298 [T/C] NM_001190997,NM_016615 SLC6A13,SLC6A13 Silent,Silent exm972714 12 352899 [A/T] NM_001190997,NM_016615 SLC6A13,SLC6A13 EXON Silent,Missense_Y95N exm972716 12 352937 [T/C] NM_001190997,NM_016615 SLC6A13,SLC6A13 EXON Silent,Missense_G82D exm972727 12 369178 [A/G] NM_001190997,NM_016615,NM_001243392 SLC6A13,SLC6A13,SLC6A13 EXON Missense_T14I,Missense_T14I,Missense_T14I exm-rs527118 12 371410 [T/C] NM_001190997,NM_016615,NM_001243392 SLC6A13,SLC6A13,SLC6A13 Silent,Silent,Silent exm972736 12 401960 [T/C] NM_001042603 KDM5A EXON Missense_A1611T exm972744 12 402118 [A/T] NM_001042603 KDM5A EXON Missense_E1558V exm972750 12 402319 [T/G] NM_001042603 KDM5A EXON Missense_E1491A exm972751 12 402325 [A/G] NM_001042603 KDM5A EXON Missense_M1489T exm972754 12 404774 [T/G] NM_001042603 KDM5A EXON Missense_P1474T exm972758 12 404858 [C/G] NM_001042603 KDM5A EXON Missense_E1446Q exm972770 12 416180 [T/C] NM_001042603 KDM5A EXON Missense_M1336V exm972772 12 416209 [T/C] NM_001042603 KDM5A EXON Missense_S1326N exm972790 12 416982 [G/C] NM_001042603 KDM5A EXON Missense_P1190A exm972791 12 416991 [T/A] NM_001042603 KDM5A EXON Missense_S1187C exm972793 12 417047 [T/C] NM_001042603 KDM5A EXON Missense_K1168R exm972794 12 417050 [T/C] NM_001042603 KDM5A EXON Missense_R1167H exm972798 12 419000 [T/C] NM_001042603 KDM5A EXON Missense_G1116E exm972802 12 419036 [T/C] NM_001042603 KDM5A EXON Missense_D1104G exm1770974 12 420070 [A/G] NM_001042603 KDM5A EXON Missense_S1066F exm972807 12 420115 [T/C] NM_001042603 KDM5A EXON Missense_R1051Q exm1771118 12 427515 [T/A] NM_001042603 KDM5A EXON Missense_Y885F exm972832 12 427575 [A/G] NM_001042603 KDM5A EXON Missense_M865T exm972839 12 431585 [G/C] NM_001042603 KDM5A EXON Missense_H808Q exm972840 12 431586 [T/A] NM_001042603 KDM5A EXON Missense_H808L exm972852 12 438072 [T/C] NM_001042603 KDM5A EXON Missense_A633T exm972853 12 438159 [A/G] NM_001042603 KDM5A EXON Missense_R604C exm972874 12 461384 [T/C] NM_001042603 KDM5A EXON Missense_N379S exm972880 12 463288 [A/G] NM_001042603 KDM5A EXON Missense_P328L exm972888 12 464341 [T/C] NM_001042603 KDM5A EXON Missense_T285A exm972893 12 465615 [T/C] NM_001042603 KDM5A EXON Missense_G254E exm972910 12 493255 [C/G] NM_001042603 KDM5A EXON Missense_S103C exm972945 12 520944 [A/G] NM_001130147,NM_001130148,NM_001130146,NM_032358 CCDC77,CCDC77,CCDC77,CCDC77 EXON Silent,Silent,Silent,Missense_V24I exm972946 12 520947 [A/C] NM_001130147,NM_001130148,NM_001130146,NM_032358 CCDC77,CCDC77,CCDC77,CCDC77 EXON Silent,Silent,Silent,Missense_S25R exm972951 12 521010 [A/G] NM_001130147,NM_001130148,NM_001130146,NM_032358 CCDC77,CCDC77,CCDC77,CCDC77 EXON Missense_E14K,Missense_E14K,Missense_E14K,Missense_E46K exm972955 12 521118 [T/C] NM_001130147,NM_001130148,NM_001130146,NM_032358 CCDC77,CCDC77,CCDC77,CCDC77 EXON Missense_L50F,Missense_L50F,Missense_L50F,Missense_L82F exm972956 12 527682 [A/G] NM_001130147,NM_001130148,NM_001130146,NM_032358 CCDC77,CCDC77,CCDC77,CCDC77 EXON Missense_Q66R,Missense_Q66R,Missense_Q66R,Missense_Q98R exm972959 12 527732 [G/C] NM_001130147,NM_001130148,NM_001130146,NM_032358 CCDC77,CCDC77,CCDC77,CCDC77 EXON Missense_Q83E,Missense_Q83E,Missense_Q83E,Missense_Q115E exm972962 12 527789 [T/C] NM_001130147,NM_001130148,NM_001130146,NM_032358 CCDC77,CCDC77,CCDC77,CCDC77 EXON Nonsense_R102X,Nonsense_R102X,Nonsense_R102X,Nonsense_R134X exm972965 12 537996 [A/G] NM_001130147,NM_001130148,NM_001130146,NM_032358 CCDC77,CCDC77,CCDC77,CCDC77 EXON Missense_E127K,Missense_E127K,Missense_E127K,Missense_E159K exm972966 12 539895 [C/G] NM_001130147,NM_001130148,NM_001130146,NM_032358 CCDC77,CCDC77,CCDC77,CCDC77 EXON Missense_F160L,Missense_F160L,Missense_F160L,Missense_F192L exm972973 12 542393 [T/A] NM_001130147,NM_001130148,NM_001130146,NM_032358 CCDC77,CCDC77,CCDC77,CCDC77 EXON Missense_Q210H,Missense_Q210H,Missense_Q210H,Missense_Q242H exm2251066 12 542402 [G/C] NM_001130147,NM_001130148,NM_001130146,NM_032358 CCDC77,CCDC77,CCDC77,CCDC77 EXON Synonymous_G213G,Synonymous_G213G,Synonymous_G213G,Synonymous_G245G exm972976 12 547528 [T/G] NM_001130147,NM_001130148,NM_001130146,NM_032358 CCDC77,CCDC77,CCDC77,CCDC77 EXON Nonsense_Y251X,Nonsense_Y251X,Nonsense_Y251X,Nonsense_Y283X exm972980 12 547683 [T/C] NM_001130147,NM_001130148,NM_001130146,NM_032358 CCDC77,CCDC77,CCDC77,CCDC77 EXON Missense_M303T,Missense_M303T,Missense_M303T,Missense_M335T exm972983 12 547692 [A/G] NM_001130147,NM_001130148,NM_001130146,NM_032358 CCDC77,CCDC77,CCDC77,CCDC77 EXON Missense_S306N,Missense_S306N,Missense_S306N,Missense_S338N exm972985 12 549792 [A/G] NM_001130147,NM_001130148,NM_001130146,NM_032358 CCDC77,CCDC77,CCDC77,CCDC77 EXON Missense_D319N,Missense_D319N,Missense_D319N,Missense_D351N exm972986 12 549793 [A/G] NM_001130147,NM_001130148,NM_001130146,NM_032358 CCDC77,CCDC77,CCDC77,CCDC77 EXON Missense_D319G,Missense_D319G,Missense_D319G,Missense_D351G exm972992 12 549903 [T/G] NM_001130147,NM_001130148,NM_001130146,NM_032358 CCDC77,CCDC77,CCDC77,CCDC77 EXON Missense_F356V,Missense_F356V,Missense_F356V,Missense_F388V exm972996 12 550052 [A/G] NM_001130147,NM_001130148,NM_001130146,NM_032358 CCDC77,CCDC77,CCDC77,CCDC77 EXON Missense_K372E,Missense_K372E,Missense_K372E,Missense_K404E exm972998 12 550074 [A/G] NM_001130147,NM_001130148,NM_001130146,NM_032358 CCDC77,CCDC77,CCDC77,CCDC77 EXON Missense_R379H,Missense_R379H,Missense_R379H,Missense_R411H exm-rs11612228 12 576984 [T/C] NM_173593 B4GALNT3 Silent exm973016 12 644337 [A/G] NM_173593 B4GALNT3 EXON Missense_G59S exm1782300 12 644394 [T/C] NM_173593 B4GALNT3 EXON Missense_P78S exm973024 12 653508 [T/C] NM_173593 B4GALNT3 EXON Missense_R119W exm973025 12 653514 [T/C] NM_173593 B4GALNT3 EXON Missense_R121C exm973035 12 654625 [T/G] NM_173593 B4GALNT3 EXON Missense_S210I exm2274550 12 657244 [C/G] NM_173593 B4GALNT3 EXON Missense_E254D exm973046 12 657404 [A/G] NM_173593 B4GALNT3 EXON Missense_R265Q exm1782836 12 658950 [A/G] NM_173593 B4GALNT3 EXON Missense_Q290R exm2251135 12 658993 [T/C] NM_173593 B4GALNT3 EXON Synonymous_H304H exm1782845 12 660088 [T/C] NM_173593 B4GALNT3 EXON Missense_V333A exm973064 12 660114 [T/C] NM_173593 B4GALNT3 EXON Missense_R342C exm973068 12 660175 [A/G] NM_173593 B4GALNT3 EXON Missense_Q362R exm973070 12 661265 [T/C] NM_173593 B4GALNT3 EXON Missense_R382C exm973077 12 661656 [A/G] NM_173593 B4GALNT3 EXON Missense_K411R exm973079 12 662392 [T/C] NM_173593 B4GALNT3 EXON Missense_Y435H exm973080 12 662412 [C/G] NM_173593 B4GALNT3 EXON Missense_E441D exm973086 12 662560 [T/C] NM_173593 B4GALNT3 EXON Missense_S491P exm973087 12 662567 [A/G] NM_173593 B4GALNT3 EXON Missense_R493Q exm973089 12 662597 [T/C] NM_173593 B4GALNT3 EXON Missense_T503I exm973091 12 662605 [A/G] NM_173593 B4GALNT3 EXON Missense_I506V exm973096 12 662695 [T/C] NM_173593 B4GALNT3 EXON Missense_H536Y exm973099 12 662762 [A/G] NM_173593 B4GALNT3 EXON Missense_K558R exm973100 12 662779 [G/C] NM_173593 B4GALNT3 EXON Missense_Q564E exm973113 12 662873 [T/C] NM_173593 B4GALNT3 EXON Missense_A595V exm973125 12 663010 [T/C] NM_173593 B4GALNT3 EXON Missense_R641W exm973126 12 663011 [A/G] NM_173593 B4GALNT3 EXON Missense_R641Q exm973131 12 663112 [T/C] NM_173593 B4GALNT3 EXON Nonsense_R675X exm973139 12 665730 [A/G] NM_173593 B4GALNT3 EXON Missense_R693H exm973141 12 665750 [T/C] NM_173593 B4GALNT3 EXON Missense_R700C exm973148 12 665814 [A/G] NM_173593 B4GALNT3 EXON Missense_R721H exm973151 12 665822 [T/C] NM_173593 B4GALNT3 EXON Missense_R724W exm973158 12 665907 [T/G] NM_173593 B4GALNT3 EXON Missense_G752V exm973160 12 665954 [T/C] NM_173593 B4GALNT3 EXON Missense_R768W exm973161 12 665955 [A/G] NM_173593 B4GALNT3 EXON Missense_R768Q exm973163 12 665966 [T/C] NM_173593 B4GALNT3 EXON Missense_P772S exm973166 12 666011 [A/G] NM_173593 B4GALNT3 EXON Missense_V787M exm973170 12 666789 [A/G] NM_173593 B4GALNT3 EXON Missense_R799H exm973171 12 666860 [A/G] NM_173593 B4GALNT3 EXON Missense_V823I exm973173 12 666917 [A/C] NM_173593 B4GALNT3 EXON Missense_K842Q exm973174 12 666923 [T/C] NM_173593 B4GALNT3 EXON Missense_R844W exm973181 12 667217 [A/G] NM_173593 B4GALNT3 EXON Missense_R857H exm973185 12 667726 [G/C] NM_173593 B4GALNT3 EXON Missense_G887A exm973192 12 667806 [A/G] NM_173593 B4GALNT3 EXON Missense_A914T exm973197 12 668472 [A/G] NM_173593 B4GALNT3 EXON Missense_V925M exm973199 12 668548 [A/G] NM_173593 B4GALNT3 EXON Missense_R950Q exm973202 12 670520 [T/C] NM_173593 B4GALNT3 EXON Missense_A967V exm973204 12 670531 [A/G] NM_173593 B4GALNT3 EXON Missense_V971M exm973207 12 670595 [A/G] NM_173593 B4GALNT3 EXON Missense_R992H exm973209 12 670598 [A/G] NM_173593 B4GALNT3 EXON Missense_R993H exm973217 12 674475 [T/C] NM_016533 NINJ2 EXON Missense_N165D exm973218 12 674486 [A/G] NM_016533 NINJ2 EXON Missense_T161I exm973222 12 674540 [T/C] NM_016533 NINJ2 EXON Missense_K143R exm973223 12 674547 [T/C] NM_016533 NINJ2 EXON Missense_V141I exm973230 12 675142 [A/G] NM_016533 NINJ2 EXON Missense_V125A exm973240 12 675281 [T/C] NM_016533 NINJ2 EXON Missense_V79M exm973242 12 675298 [T/A] NM_016533 NINJ2 EXON Missense_Y73F exm2221037 12 675314 [T/C] NM_016533 NINJ2 EXON Missense_I68V exm973250 12 772619 [T/C] NM_016533 NINJ2 EXON Missense_K16E exm973253 12 772649 [A/G] NM_016533 NINJ2 EXON Missense_R6C exm-rs12425791 12 783484 [A/G] exm2271675 12 854331 [T/C] exm973283 12 863286 [C/G] NM_001184985,NM_014823,NM_213655,NM_018979 WNK1,WNK1,WNK1,WNK1 EXON Missense_S185R,Missense_S185R,Missense_S185R,Missense_S185R exm973285 12 863309 [A/C] NM_001184985,NM_014823,NM_213655,NM_018979 WNK1,WNK1,WNK1,WNK1 EXON Missense_P193Q,Missense_P193Q,Missense_P193Q,Missense_P193Q exm973288 12 863408 [T/A] NM_001184985,NM_014823,NM_213655,NM_018979 WNK1,WNK1,WNK1,WNK1 EXON Missense_E226V,Missense_E226V,Missense_E226V,Missense_E226V exm973293 12 922913 [T/C] NM_001184985,NM_014823,NM_213655,NM_018979 WNK1,WNK1,WNK1,WNK1 EXON Missense_S289P,Missense_S289P,Missense_S289P,Missense_S289P exm973313 12 968536 [T/C] NM_001184985,NM_014823,NM_213655,NM_018979 WNK1,WNK1,WNK1,WNK1 EXON Missense_I509T,Missense_I509T,Missense_I509T,Missense_I509T exm973329 12 970392 [A/G] NM_001184985,NM_014823,NM_213655,NM_018979 WNK1,WNK1,WNK1,WNK1 EXON Missense_G612S,Missense_G612S,Missense_G612S,Missense_G612S exm973330 12 970413 [A/G] NM_001184985,NM_014823,NM_213655,NM_018979 WNK1,WNK1,WNK1,WNK1 EXON Missense_T619A,Missense_T619A,Missense_T619A,Missense_T619A exm973334 12 971291 [T/C] NM_001184985,NM_014823,NM_213655,NM_018979 WNK1,WNK1,WNK1,WNK1 EXON Missense_T665I,Missense_T665I,Missense_T665I,Missense_T665I exm973337 12 971317 [A/G] NM_001184985,NM_014823,NM_213655,NM_018979 WNK1,WNK1,WNK1,WNK1 EXON Missense_T674A,Missense_T674A,Missense_T674A,Missense_T674A exm973344 12 974326 [C/G] NM_001184985,NM_014823,NM_213655,NM_018979 WNK1,WNK1,WNK1,WNK1 EXON Silent,Silent,Missense_L730F,Silent exm2221287 12 974498 [T/C] NM_001184985,NM_014823,NM_213655,NM_018979 WNK1,WNK1,WNK1,WNK1 EXON Silent,Silent,Missense_R788C,Silent exm973373 12 977632 [G/C] NM_001184985,NM_014823,NM_213655,NM_018979 WNK1,WNK1,WNK1,WNK1 EXON Missense_L914V,Silent,Missense_L999V,Silent exm973378 12 977744 [T/C] NM_001184985,NM_014823,NM_213655,NM_018979 WNK1,WNK1,WNK1,WNK1 EXON Missense_A951V,Silent,Missense_A1036V,Silent exm973384 12 978008 [A/G] NM_001184985,NM_014823,NM_213655,NM_018979 WNK1,WNK1,WNK1,WNK1 EXON Missense_G1039E,Silent,Missense_G1124E,Silent exm973391 12 980485 [T/C] NM_001184985,NM_014823,NM_213655,NM_018979 WNK1,WNK1,WNK1,WNK1 EXON Missense_S1145P,Missense_S732P,Missense_S1230P,Missense_S732P exm973392 12 980497 [A/G] NM_001184985,NM_014823,NM_213655,NM_018979 WNK1,WNK1,WNK1,WNK1 EXON Missense_I1149V,Missense_I736V,Missense_I1234V,Missense_I736V exm973400 12 987490 [T/C] NM_001184985,NM_014823,NM_213655,NM_018979 WNK1,WNK1,WNK1,WNK1 EXON Missense_A1192V,Missense_A778V,Missense_A1277V,Missense_A779V exm973405 12 988766 [A/G] NM_001184985,NM_014823,NM_213655,NM_018979 WNK1,WNK1,WNK1,WNK1 EXON Silent,Silent,Silent,Missense_I801V exm973408 12 988824 [C/G] NM_001184985,NM_014823,NM_213655,NM_018979 WNK1,WNK1,WNK1,WNK1 EXON Silent,Silent,Silent,Missense_S820C exm973410 12 988833 [A/G] NM_001184985,NM_014823,NM_213655,NM_018979 WNK1,WNK1,WNK1,WNK1 EXON Silent,Silent,Silent,Missense_H823R exm973419 12 989196 [A/G] NM_001184985,NM_014823,NM_213655,NM_018979 WNK1,WNK1,WNK1,WNK1 EXON Silent,Silent,Silent,Missense_Q944R exm1789254 12 990070 [T/C] NM_001184985,NM_014823,NM_213655,NM_018979 WNK1,WNK1,WNK1,WNK1 EXON Missense_P1266S,Silent,Silent,Missense_P1006S exm1789256 12 990073 [A/G] NM_001184985,NM_014823,NM_213655,NM_018979 WNK1,WNK1,WNK1,WNK1 EXON Missense_M1267V,Silent,Silent,Missense_M1007V exm973433 12 990912 [A/C] NM_001184985,NM_014823,NM_213655,NM_018979 WNK1,WNK1,WNK1,WNK1 EXON Missense_T1316P,Missense_T809P,Missense_T1308P,Missense_T1056P exm973435 12 990934 [T/C] NM_001184985,NM_014823,NM_213655,NM_018979 WNK1,WNK1,WNK1,WNK1 EXON Missense_T1323I,Missense_T816I,Missense_T1315I,Missense_T1063I exm1789356 12 991183 [G/C] NM_001184985,NM_014823,NM_213655,NM_018979 WNK1,WNK1,WNK1,WNK1 EXON Missense_V1366L,Missense_V859L,Missense_V1358L,Missense_V1106L exm973446 12 992579 [C/G] NM_001184985,NM_014823,NM_213655,NM_018979 WNK1,WNK1,WNK1,WNK1 EXON Missense_L1430V,Missense_L923V,Missense_L1422V,Missense_L1170V exm1789376 12 992587 [A/G] NM_001184985,NM_014823,NM_213655,NM_018979 WNK1,WNK1,WNK1,WNK1 EXON Missense_I1432M,Missense_I925M,Missense_I1424M,Missense_I1172M exm973450 12 992649 [A/G] NM_001184985,NM_014823,NM_213655,NM_018979 WNK1,WNK1,WNK1,WNK1 EXON Missense_S1453N,Missense_S946N,Missense_S1445N,Missense_S1193N exm2251278 12 992653 [A/G] NM_001184985,NM_014823,NM_213655,NM_018979 WNK1,WNK1,WNK1,WNK1 EXON Synonymous_E1454E,Synonymous_E947E,Synonymous_E1446E,Synonymous_E1194E exm973452 12 992653 [A/G] NM_001184985,NM_014823,NM_213655,NM_018979 WNK1,WNK1,WNK1,WNK1 EXON Synonymous_E1454E,Synonymous_E947E,Synonymous_E1446E,Synonymous_E1194E exm973487 12 994324 [A/G] NM_001184985,NM_014823,NM_213655,NM_018979 WNK1,WNK1,WNK1,WNK1 EXON Missense_T1712A,Missense_T1205A,Missense_T1704A,Missense_T1452A exm973492 12 994487 [C/G] NM_001184985,NM_014823,NM_213655,NM_018979 WNK1,WNK1,WNK1,WNK1 EXON Missense_C1766S,Missense_C1259S,Missense_C1758S,Missense_C1506S exm973494 12 994534 [A/G] NM_001184985,NM_014823,NM_213655,NM_018979 WNK1,WNK1,WNK1,WNK1 EXON Missense_V1782M,Missense_V1275M,Missense_V1774M,Missense_V1522M exm973526 12 998365 [T/G] NM_001184985,NM_014823,NM_213655,NM_018979 WNK1,WNK1,WNK1,WNK1 EXON Missense_M2068I,Missense_M1561I,Missense_M2060I,Missense_M1808I exm973530 12 999638 [T/C] NM_001184985,NM_014823,NM_213655,NM_018979 WNK1,WNK1,WNK1,WNK1 EXON Missense_P2083L,Missense_P1576L,Missense_P2075L,Missense_P1823L exm2274551 12 999666 [A/G] NM_001184985,NM_014823,NM_213655,NM_018979 WNK1,WNK1,WNK1,WNK1 EXON Synonymous_Q2092Q,Synonymous_Q1585Q,Synonymous_Q2084Q,Synonymous_Q1832Q exm973543 12 1005291 [A/G] NM_001184985,NM_014823,NM_213655,NM_018979 WNK1,WNK1,WNK1,WNK1 EXON Missense_A2140T,Missense_A1632T,Missense_A2132T,Missense_A1880T exm973546 12 1005373 [T/C] NM_001184985,NM_014823,NM_213655,NM_018979 WNK1,WNK1,WNK1,WNK1 EXON Missense_P2167L,Missense_P1659L,Missense_P2159L,Missense_P1907L exm1749627 12 1005486 [T/C] NM_001184985,NM_014823,NM_213655,NM_018979 WNK1,WNK1,WNK1,WNK1 EXON Missense_R2205C,Missense_R1697C,Missense_R2197C,Missense_R1945C exm973552 12 1005504 [A/G] NM_001184985,NM_014823,NM_213655,NM_018979 WNK1,WNK1,WNK1,WNK1 EXON Missense_T2211A,Missense_T1703A,Missense_T2203A,Missense_T1951A exm973553 12 1005522 [T/C] NM_001184985,NM_014823,NM_213655,NM_018979 WNK1,WNK1,WNK1,WNK1 EXON Missense_R2217C,Missense_R1709C,Missense_R2209C,Missense_R1957C exm973573 12 1009817 [A/C] NM_001184985,NM_014823,NM_213655,NM_018979 WNK1,WNK1,WNK1,WNK1 EXON Missense_S2468R,Missense_S1960R,Missense_S2460R,Missense_S2208R exm973586 12 1017830 [A/G] NM_001184985,NM_014823,NM_213655,NM_018979 WNK1,WNK1,WNK1,WNK1 EXON Missense_G2601S,Missense_G2093S,Missense_G2593S,Missense_G2341S exm2275344 12 1017956 [T/A] NM_001184985,NM_014823,NM_213655,NM_018979 WNK1,WNK1,WNK1,WNK1 EXON Missense_X2643K,Missense_X2135K,Missense_X2635K,Missense_X2383K exm973596 12 1022569 [A/C] NM_134424 RAD52 EXON Nonsense_Y415X exm973603 12 1023218 [T/G] NM_134424 RAD52 EXON Nonsense_S346X exm973608 12 1023695 [A/G] NM_134424 RAD52 EXON Missense_A290V exm973613 12 1025614 [A/G] NM_134424 RAD52 EXON Missense_T254M exm973614 12 1025630 [T/C] NM_134424 RAD52 EXON Missense_V249M exm973618 12 1025863 [T/C] NM_134424 RAD52 EXON Missense_T223A exm973619 12 1025869 [C/G] NM_134424 RAD52 EXON Missense_Q221E exm973637 12 1036390 [T/C] NM_134424 RAD52 EXON Missense_E130K exm973654 12 1040391 [A/G] NM_134424 RAD52 EXON Nonsense_Q61X exm973655 12 1040397 [T/C] NM_134424 RAD52 EXON Missense_G59R exm973660 12 1040471 [T/C] NM_134424 RAD52 EXON Missense_E34G exm973670 12 1137117 [C/G] NR_027949,NR_027946,NM_178039,NM_178040,NR_027948 ERC1,ERC1,ERC1,ERC1,ERC1 EXON Silent,Silent,Missense_Q16H,Missense_Q16H,Silent exm973678 12 1137217 [A/G] NR_027949,NR_027946,NM_178039,NM_178040,NR_027948 ERC1,ERC1,ERC1,ERC1,ERC1 EXON Silent,Silent,Missense_S50G,Missense_S50G,Silent exm973686 12 1137433 [A/G] NR_027949,NR_027946,NM_178039,NM_178040,NR_027948 ERC1,ERC1,ERC1,ERC1,ERC1 EXON Silent,Silent,Missense_T122A,Missense_T122A,Silent exm973694 12 1137728 [A/C] NR_027949,NR_027946,NM_178039,NM_178040,NR_027948 ERC1,ERC1,ERC1,ERC1,ERC1 EXON Silent,Silent,Missense_E220A,Missense_E220A,Silent exm973697 12 1192370 [A/G] NR_027949,NR_027946,NM_178039,NM_178040,NR_027948 ERC1,ERC1,ERC1,ERC1,ERC1 EXON Silent,Silent,Missense_R237Q,Missense_R237Q,Silent exm973698 12 1192419 [T/G] NR_027949,NR_027946,NM_178039,NM_178040,NR_027948 ERC1,ERC1,ERC1,ERC1,ERC1 EXON Silent,Silent,Missense_R253S,Missense_R253S,Silent exm973705 12 1192568 [A/G] NR_027949,NR_027946,NM_178039,NM_178040,NR_027948 ERC1,ERC1,ERC1,ERC1,ERC1 EXON Silent,Silent,Missense_N303S,Missense_N303S,Silent exm973707 12 1192664 [A/G] NR_027949,NR_027946,NM_178039,NM_178040,NR_027948 ERC1,ERC1,ERC1,ERC1,ERC1 EXON Silent,Silent,Missense_R335Q,Missense_R335Q,Silent exm973710 12 1213965 [G/C] NR_027949,NR_027946,NM_178039,NM_178040,NR_027948 ERC1,ERC1,ERC1,ERC1,ERC1 EXON Silent,Silent,Missense_A379G,Missense_A379G,Silent exm973718 12 1219440 [A/G] NR_027949,NR_027946,NM_178039,NM_178040,NR_027948 ERC1,ERC1,ERC1,ERC1,ERC1 EXON Silent,Silent,Missense_S415N,Missense_S415N,Silent exm973723 12 1221435 [A/G] NR_027949,NR_027946,NM_178039,NM_178040,NR_027948 ERC1,ERC1,ERC1,ERC1,ERC1 EXON Silent,Silent,Silent,Missense_K458E,Silent exm973726 12 1225032 [A/G] NR_027949,NR_027946,NM_178039,NM_178040,NR_027948 ERC1,ERC1,ERC1,ERC1,ERC1 EXON Silent,Silent,Missense_I440V,Missense_I468V,Silent exm973732 12 1291100 [A/G] NR_027949,NR_027946,NM_178039,NM_178040,NR_027948 ERC1,ERC1,ERC1,ERC1,ERC1 EXON Silent,Silent,Missense_I601V,Missense_I629V,Silent exm973734 12 1291195 [A/C] NR_027949,NR_027946,NM_178039,NM_178040,NR_027948 ERC1,ERC1,ERC1,ERC1,ERC1 EXON Silent,Silent,Missense_K632N,Missense_K660N,Silent exm973736 12 1292552 [G/C] NR_027949,NR_027946,NM_178039,NM_178040,NR_027948 ERC1,ERC1,ERC1,ERC1,ERC1 EXON Silent,Silent,Missense_E680Q,Missense_E708Q,Silent exm973740 12 1299074 [A/G] NR_027949,NR_027946,NM_178039,NM_178040,NR_027948 ERC1,ERC1,ERC1,ERC1,ERC1 EXON Silent,Silent,Missense_R708Q,Missense_R736Q,Silent exm973743 12 1299134 [A/C] NR_027949,NR_027946,NM_178039,NM_178040,NR_027948 ERC1,ERC1,ERC1,ERC1,ERC1 EXON Silent,Silent,Missense_A728E,Missense_A756E,Silent exm973758 12 1481021 [A/G] NR_027949,NR_027946,NM_178039,NM_178040,NR_027948 ERC1,ERC1,ERC1,ERC1,ERC1 EXON Silent,Silent,Missense_I907V,Missense_I935V,Silent exm973762 12 1481106 [A/G] NR_027949,NR_027946,NM_178039,NM_178040,NR_027948 ERC1,ERC1,ERC1,ERC1,ERC1 EXON Silent,Silent,Missense_R935Q,Missense_R963Q,Silent exm2250726 12 1517350 [T/C] NR_027949,NR_027946,NM_178039,NM_178040,NR_027948 ERC1,ERC1,ERC1,ERC1,ERC1 EXON Silent,Silent,Synonymous_Y959Y,Synonymous_Y987Y,Silent exm973773 12 1553797 [A/G] NR_027949,NR_027946,NM_178039,NM_178040,NR_027948 ERC1,ERC1,ERC1,ERC1,ERC1 EXON Silent,Silent,Missense_T1004A,Missense_T1032A,Silent exm973779 12 1553873 [A/G] NR_027949,NR_027946,NM_178039,NM_178040,NR_027948 ERC1,ERC1,ERC1,ERC1,ERC1 EXON Silent,Silent,Missense_Q1029R,Missense_Q1057R,Silent exm2271819 12 1563871 [T/C] NR_027949,NR_027946,NM_178039,NM_178040,NR_027948 ERC1,ERC1,ERC1,ERC1,ERC1 Silent,Silent,Silent,Silent,Silent exm973796 12 1675943 [T/C] NM_152441 FBXL14 EXON Missense_V410M exm973797 12 1675969 [T/C] NM_152441 FBXL14 EXON Missense_R401Q exm973834 12 1702929 [T/G] NM_152441 FBXL14 EXON Missense_N102H exm2250747 12 1702948 [A/G] NM_152441 FBXL14 EXON Synonymous_L95L exm973850 12 1703226 [T/C] NM_152441 FBXL14 EXON Missense_T3A exm1761796 12 1740548 [A/G] NM_030775,NM_032642 WNT5B,WNT5B EXON Missense_A10T,Missense_A10T exm973855 12 1741841 [T/C] NM_030775,NM_032642 WNT5B,WNT5B EXON Missense_P33L,Missense_P33L exm973902 12 1863625 [A/G] NM_024551 ADIPOR2 EXON Missense_Q39R exm973921 12 1893094 [A/G] NM_024551 ADIPOR2 EXON Missense_Y296C exm973930 12 1895230 [T/G] NM_024551 ADIPOR2 EXON Missense_A385S exm973936 12 1902879 [A/G] NM_172364 CACNA2D4 EXON Missense_P1119L exm973939 12 1902897 [A/G] NM_172364 CACNA2D4 EXON Missense_S1113L exm973945 12 1902912 [T/G] NM_172364 CACNA2D4 EXON Missense_D1108A exm973955 12 1906632 [A/G] NM_172364 CACNA2D4 EXON Missense_P1022L exm973959 12 1908849 [A/G] NM_172364 CACNA2D4 EXON Missense_F996S exm973967 12 1909551 [T/C] NM_172364 CACNA2D4 Silent exm973969 12 1909582 [A/G] NM_172364 CACNA2D4 EXON Missense_A964V exm973978 12 1910786 [T/C] NM_172364 CACNA2D4 EXON Missense_D916N exm973993 12 1919744 [T/C] NM_172364 CACNA2D4 EXON Missense_V875M exm973996 12 1920835 [A/G] NM_172364 CACNA2D4 EXON Missense_T869M exm973997 12 1920841 [A/G] NM_172364 CACNA2D4 EXON Missense_A867V exm973998 12 1920853 [T/C] NM_172364 CACNA2D4 EXON Missense_R863H exm974007 12 1937340 [A/G] NM_172364,NM_001163926,NM_001163925,NM_001039029 CACNA2D4,LRTM2,LRTM2,LRTM2 EXON Silent,Missense_G9E,Missense_G9E,Missense_G9E exm974010 12 1937354 [T/C] NM_172364,NM_001163926,NM_001163925,NM_001039029 CACNA2D4,LRTM2,LRTM2,LRTM2 EXON Silent,Missense_L14F,Missense_L14F,Missense_L14F exm974020 12 1940224 [T/C] NM_172364,NM_001163926,NM_001163925,NM_001039029 CACNA2D4,LRTM2,LRTM2,LRTM2 EXON Silent,Missense_P64L,Missense_P64L,Missense_P64L exm974029 12 1940382 [A/G] NM_172364,NM_001163926,NM_001163925,NM_001039029 CACNA2D4,LRTM2,LRTM2,LRTM2 EXON Silent,Missense_N117D,Missense_N117D,Missense_N117D exm974039 12 1940514 [A/G] NM_172364,NM_001163926,NM_001163925,NM_001039029 CACNA2D4,LRTM2,LRTM2,LRTM2 EXON Silent,Missense_D161N,Missense_D161N,Missense_D161N exm974040 12 1940524 [T/C] NM_172364,NM_001163926,NM_001163925,NM_001039029 CACNA2D4,LRTM2,LRTM2,LRTM2 EXON Silent,Missense_L164P,Missense_L164P,Missense_L164P exm974045 12 1940577 [A/C] NM_172364,NM_001163926,NM_001163925,NM_001039029 CACNA2D4,LRTM2,LRTM2,LRTM2 EXON Silent,Missense_L182M,Missense_L182M,Missense_L182M exm974070 12 1943732 [A/G] NM_172364,NM_001163926,NM_001163925,NM_001039029 CACNA2D4,LRTM2,LRTM2,LRTM2 EXON Silent,Missense_V320I,Missense_V320I,Missense_V320I exm1762282 12 1943826 [T/C] NM_172364,NM_001163926,NM_001163925,NM_001039029 CACNA2D4,LRTM2,LRTM2,LRTM2 EXON Silent,Missense_P351L,Missense_P351L,Missense_P351L exm974083 12 1949932 [T/C] NM_172364 CACNA2D4 EXON Missense_V842M exm1762309 12 1949940 [A/G] NM_172364 CACNA2D4 EXON Missense_A839V exm974092 12 1953632 [T/G] NM_172364 CACNA2D4 EXON Nonsense_Y802X exm974094 12 1953664 [T/C] NM_172364 CACNA2D4 EXON Missense_V792M exm974095 12 1953673 [T/C] NM_172364 CACNA2D4 EXON Missense_E789K exm974097 12 1955764 [T/C] NM_172364 CACNA2D4 EXON Missense_D780N exm974101 12 1955795 [T/G] NM_172364 CACNA2D4 EXON Missense_S769R exm974104 12 1963124 [T/C] NM_172364 CACNA2D4 EXON Missense_M747V exm974108 12 1963174 [A/G] NM_172364 CACNA2D4 EXON Missense_A730V exm974111 12 1963192 [T/C] NM_172364 CACNA2D4 EXON Missense_R724Q exm974114 12 1965210 [T/C] NM_172364 CACNA2D4 EXON Missense_R707H exm974116 12 1965221 [G/C] NM_172364 CACNA2D4 EXON Missense_E703D exm974117 12 1965235 [A/G] NM_172364 CACNA2D4 EXON Missense_L699F exm974119 12 1965243 [T/C] NM_172364 CACNA2D4 EXON Missense_H696R exm974123 12 1965357 [T/C] NM_172364 CACNA2D4 EXON Missense_G683S exm974133 12 1969369 [A/G] NM_172364 CACNA2D4 EXON Nonsense_R628X exm974137 12 1983783 [A/G] NM_172364 CACNA2D4 EXON Missense_P622L exm974145 12 1988133 [A/G] NM_172364 CACNA2D4 EXON Missense_P545S exm2220338 12 1988970 [T/C] NM_172364 CACNA2D4 EXON Synonymous_T521T exm974151 12 1988975 [T/C] NM_172364 CACNA2D4 EXON Missense_E520K exm974157 12 1989025 [T/C] NM_172364 CACNA2D4 EXON Missense_S503N exm974169 12 1993465 [A/G] NM_172364 CACNA2D4 EXON Missense_I432T exm974170 12 1993950 [T/C] NM_172364 CACNA2D4 EXON Missense_N419S exm974177 12 1993993 [T/C] NM_172364 CACNA2D4 EXON Missense_D405N exm974189 12 1995403 [T/C] NM_172364 CACNA2D4 EXON Missense_I327V exm974210 12 2017194 [A/C] NM_172364 CACNA2D4 EXON Missense_Y166D exm1762513 12 2022196 [A/G] NM_172364 CACNA2D4 EXON Missense_A140V exm974223 12 2027501 [T/C] NM_172364 CACNA2D4 EXON Missense_V47M exm974226 12 2027564 [T/C] NM_172364 CACNA2D4 EXON Missense_A26T exm974228 12 2027625 [C/G] NM_172364 CACNA2D4 EXON Missense_C5W exm974234 12 2055401 [T/A] NM_152640 DCP1B EXON Missense_T609S exm974240 12 2058319 [A/G] NM_152640 DCP1B EXON Missense_P569L exm974243 12 2058333 [T/C] NM_152640 DCP1B EXON Missense_I564M exm974246 12 2058415 [A/G] NM_152640 DCP1B EXON Missense_P537L exm974251 12 2058443 [T/C] NM_152640 DCP1B EXON Missense_M528V exm974259 12 2061582 [T/C] NM_152640 DCP1B EXON Synonymous_Q508Q exm974261 12 2061614 [A/G] NM_152640 DCP1B EXON Missense_P498S exm974268 12 2061874 [G/C] NM_152640 DCP1B EXON Missense_S411C exm974274 12 2061955 [T/C] NM_152640 DCP1B EXON Missense_R384H exm974275 12 2061956 [A/G] NM_152640 DCP1B EXON Missense_R384C exm974277 12 2061982 [A/G] NM_152640 DCP1B EXON Missense_A375V exm974278 12 2061995 [A/G] NM_152640 DCP1B EXON Missense_P371S exm974279 12 2062000 [T/C] NM_152640 DCP1B EXON Missense_C369Y exm2250768 12 2062056 [A/G] NM_152640 DCP1B EXON Synonymous_S350S exm974282 12 2062061 [T/C] NM_152640 DCP1B EXON Missense_A349T exm974283 12 2062075 [T/C] NM_152640 DCP1B EXON Missense_R344H exm974288 12 2062135 [A/G] NM_152640 DCP1B EXON Missense_A324V exm974290 12 2062196 [A/G] NM_152640 DCP1B EXON Missense_L304F exm974291 12 2062204 [G/C] NM_152640 DCP1B EXON Missense_S301T exm974308 12 2062427 [A/G] NM_152640 DCP1B EXON Missense_S227P exm974310 12 2062442 [T/C] NM_152640 DCP1B EXON Missense_E222K exm974313 12 2064602 [T/C] NM_152640 DCP1B EXON Missense_N216S exm974325 12 2074822 [T/C] NM_152640 DCP1B EXON Missense_T142A exm2271676 12 2154876 [T/C] exm1763630 12 2224411 [A/G] NM_001167623,NM_001129843,NM_001129830,NM_001129837,NM_001167625,NM_001129827,NM_001129831,NM_001129840,NM_001129833,NM_001129829,NM_001129846,NM_001129835,NM_001129832,NM_199460,NM_001129839,NM_000719,NM_001129836,NM_001129842,NM_001129844,NM_001129838,NM_001167624,NM_001129834,NM_001129841 CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C EXON Missense_R24H,Missense_R24H,Missense_R24H,Missense_R24H,Missense_R24H,Missense_R24H,Missense_R24H,Missense_R24H,Missense_R24H,Missense_R24H,Missense_R24H,Missense_R24H,Missense_R24H,Missense_R24H,Missense_R24H,Missense_R24H,Missense_R24H,Missense_R24H,Missense_R24H,Missense_R24H,Missense_R24H,Missense_R24H,Missense_R24H exm2220364 12 2224438 [A/G] NM_001167623,NM_001129843,NM_001129830,NM_001129837,NM_001167625,NM_001129827,NM_001129831,NM_001129840,NM_001129833,NM_001129829,NM_001129846,NM_001129835,NM_001129832,NM_199460,NM_001129839,NM_000719,NM_001129836,NM_001129842,NM_001129844,NM_001129838,NM_001167624,NM_001129834,NM_001129841 CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C EXON Missense_N33S,Missense_N33S,Missense_N33S,Missense_N33S,Missense_N33S,Missense_N33S,Missense_N33S,Missense_N33S,Missense_N33S,Missense_N33S,Missense_N33S,Missense_N33S,Missense_N33S,Missense_N33S,Missense_N33S,Missense_N33S,Missense_N33S,Missense_N33S,Missense_N33S,Missense_N33S,Missense_N33S,Missense_N33S,Missense_N33S exm974345 12 2224449 [A/G] NM_001167623,NM_001129843,NM_001129830,NM_001129837,NM_001167625,NM_001129827,NM_001129831,NM_001129840,NM_001129833,NM_001129829,NM_001129846,NM_001129835,NM_001129832,NM_199460,NM_001129839,NM_000719,NM_001129836,NM_001129842,NM_001129844,NM_001129838,NM_001167624,NM_001129834,NM_001129841 CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C EXON Missense_G37R,Missense_G37R,Missense_G37R,Missense_G37R,Missense_G37R,Missense_G37R,Missense_G37R,Missense_G37R,Missense_G37R,Missense_G37R,Missense_G37R,Missense_G37R,Missense_G37R,Missense_G37R,Missense_G37R,Missense_G37R,Missense_G37R,Missense_G37R,Missense_G37R,Missense_G37R,Missense_G37R,Missense_G37R,Missense_G37R exm-rs1006737 12 2345295 [A/G] NM_001167623,NM_001129843,NM_001129830,NM_001129837,NM_001167625,NM_001129827,NM_001129831,NM_001129840,NM_001129833,NM_001129829,NM_001129846,NM_001129835,NM_001129832,NM_199460,NM_001129839,NM_000719,NM_001129836,NM_001129842,NM_001129844,NM_001129838,NM_001167624,NM_001129834,NM_001129841 CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm-rs1024582 12 2402246 [A/G] NM_001167623,NM_001129843,NM_001129830,NM_001129837,NM_001167625,NM_001129827,NM_001129831,NM_001129840,NM_001129833,NM_001129829,NM_001129846,NM_001129835,NM_001129832,NM_199460,NM_001129839,NM_000719,NM_001129836,NM_001129842,NM_001129844,NM_001129838,NM_001167624,NM_001129834,NM_001129841 CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm2271677 12 2570535 [T/C] NM_001167623,NM_001129843,NM_001129830,NM_001129837,NM_001167625,NM_001129827,NM_001129831,NM_001129840,NM_001129833,NM_001129829,NM_001129846,NM_001129835,NM_001129832,NM_199460,NM_001129839,NM_000719,NM_001129836,NM_001129842,NM_001129844,NM_001129838,NM_001167624,NM_001129834,NM_001129841 CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm974374 12 2595410 [A/G] NM_001167623,NM_001129843,NM_001129830,NM_001129837,NM_001167625,NM_001129827,NM_001129831,NM_001129840,NM_001129833,NM_001129829,NM_001129846,NM_001129835,NM_001129832,NM_199460,NM_001129839,NM_000719,NM_001129836,NM_001129842,NM_001129844,NM_001129838,NM_001167624,NM_001129834,NM_001129841 CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C EXON Missense_N300D,Missense_N300D,Missense_N300D,Missense_N300D,Missense_N300D,Missense_N300D,Missense_N300D,Missense_N300D,Missense_N300D,Missense_N300D,Missense_N300D,Missense_N300D,Missense_N300D,Missense_N300D,Missense_N300D,Missense_N300D,Missense_N300D,Missense_N300D,Missense_N300D,Missense_N300D,Missense_N300D,Missense_N300D,Missense_N300D exm974376 12 2595423 [T/C] NM_001167623,NM_001129843,NM_001129830,NM_001129837,NM_001167625,NM_001129827,NM_001129831,NM_001129840,NM_001129833,NM_001129829,NM_001129846,NM_001129835,NM_001129832,NM_199460,NM_001129839,NM_000719,NM_001129836,NM_001129842,NM_001129844,NM_001129838,NM_001167624,NM_001129834,NM_001129841 CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C EXON Missense_I304T,Missense_I304T,Missense_I304T,Missense_I304T,Missense_I304T,Missense_I304T,Missense_I304T,Missense_I304T,Missense_I304T,Missense_I304T,Missense_I304T,Missense_I304T,Missense_I304T,Missense_I304T,Missense_I304T,Missense_I304T,Missense_I304T,Missense_I304T,Missense_I304T,Missense_I304T,Missense_I304T,Missense_I304T,Missense_I304T exm974403 12 2659186 [A/G] NM_001167623,NM_001129843,NM_001129830,NM_001129837,NM_001167625,NM_001129827,NM_001129831,NM_001129840,NM_001129833,NM_001129829,NM_001129846,NM_001129835,NM_001129832,NM_199460,NM_001129839,NM_000719,NM_001129836,NM_001129842,NM_001129844,NM_001129838,NM_001167624,NM_001129834,NM_001129841 CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C EXON Missense_G490R,Missense_G490R,Missense_G490R,Missense_G490R,Missense_G490R,Missense_G490R,Missense_G490R,Missense_G490R,Missense_G490R,Missense_G490R,Missense_G490R,Missense_G490R,Missense_G490R,Missense_G490R,Missense_G490R,Missense_G490R,Missense_G490R,Missense_G490R,Missense_G487R,Missense_G490R,Missense_G490R,Missense_G490R,Missense_G490R exm974416 12 2675668 [T/G] NM_001167623,NM_001129843,NM_001129830,NM_001129837,NM_001167625,NM_001129827,NM_001129831,NM_001129840,NM_001129833,NM_001129829,NM_001129846,NM_001129835,NM_001129832,NM_199460,NM_001129839,NM_000719,NM_001129836,NM_001129842,NM_001129844,NM_001129838,NM_001167624,NM_001129834,NM_001129841 CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C EXON Missense_V530G,Missense_V530G,Missense_V530G,Missense_V530G,Missense_V530G,Missense_V530G,Missense_V530G,Missense_V530G,Missense_V530G,Missense_V530G,Missense_V530G,Missense_V530G,Missense_V530G,Missense_V530G,Missense_V530G,Missense_V530G,Missense_V530G,Missense_V530G,Missense_V527G,Missense_V530G,Missense_V530G,Missense_V530G,Missense_V530G exm974427 12 2676848 [A/G] NM_001167623,NM_001129843,NM_001129830,NM_001129837,NM_001167625,NM_001129827,NM_001129831,NM_001129840,NM_001129833,NM_001129829,NM_001129846,NM_001129835,NM_001129832,NM_199460,NM_001129839,NM_000719,NM_001129836,NM_001129842,NM_001129844,NM_001129838,NM_001167624,NM_001129834,NM_001129841 CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C EXON Missense_V595I,Missense_V595I,Missense_V595I,Missense_V595I,Missense_V595I,Missense_V595I,Missense_V595I,Missense_V595I,Missense_V595I,Missense_V595I,Missense_V595I,Missense_V595I,Missense_V595I,Missense_V595I,Missense_V595I,Missense_V595I,Missense_V595I,Missense_V595I,Missense_V592I,Missense_V595I,Missense_V595I,Missense_V595I,Missense_V595I exm974443 12 2694651 [T/C] NM_001167623,NM_001129843,NM_001129830,NM_001129837,NM_001167625,NM_001129827,NM_001129831,NM_001129840,NM_001129833,NM_001129829,NM_001129846,NM_001129835,NM_001129832,NM_199460,NM_001129839,NM_000719,NM_001129836,NM_001129842,NM_001129844,NM_001129838,NM_001167624,NM_001129834,NM_001129841 CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C EXON Missense_P817S,Missense_P817S,Missense_P817S,Missense_P817S,Missense_P817S,Missense_P817S,Missense_P817S,Missense_P817S,Missense_P817S,Missense_P817S,Missense_P817S,Missense_P817S,Missense_P817S,Missense_P817S,Missense_P817S,Missense_P817S,Missense_P817S,Missense_P817S,Missense_P814S,Missense_P817S,Missense_P817S,Missense_P817S,Missense_P817S exm974446 12 2702414 [A/G] NM_001167623,NM_001129843,NM_001129830,NM_001129837,NM_001167625,NM_001129827,NM_001129831,NM_001129840,NM_001129833,NM_001129829,NM_001129846,NM_001129835,NM_001129832,NM_199460,NM_001129839,NM_000719,NM_001129836,NM_001129842,NM_001129844,NM_001129838,NM_001167624,NM_001129834,NM_001129841 CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C EXON Missense_G856S,Missense_G856S,Missense_G856S,Missense_G856S,Missense_G856S,Missense_G856S,Missense_G856S,Missense_G856S,Missense_G856S,Missense_G856S,Missense_G856S,Missense_G856S,Missense_G856S,Missense_G856S,Missense_G856S,Missense_G856S,Missense_G856S,Missense_G856S,Missense_G853S,Missense_G856S,Missense_G856S,Missense_G856S,Missense_G856S exm-rs216013 12 2729632 [A/G] NM_001167623,NM_001129843,NM_001129830,NM_001129837,NM_001167625,NM_001129827,NM_001129831,NM_001129840,NM_001129833,NM_001129829,NM_001129846,NM_001129835,NM_001129832,NM_199460,NM_001129839,NM_000719,NM_001129836,NM_001129842,NM_001129844,NM_001129838,NM_001167624,NM_001129834,NM_001129841 CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm974487 12 2742849 [A/G] NM_001167623,NM_001129843,NM_001129830,NM_001129837,NM_001167625,NM_001129827,NM_001129831,NM_001129840,NM_001129833,NM_001129829,NM_001129846,NM_001129835,NM_001129832,NM_199460,NM_001129839,NM_000719,NM_001129836,NM_001129842,NM_001129844,NM_001129838,NM_001167624,NM_001129834,NM_001129841 CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C EXON Missense_I1295V,Silent,Silent,Silent,Silent,Missense_I1315V,Missense_I1295V,Silent,Missense_I1295V,Silent,Silent,Silent,Silent,Missense_I1315V,Silent,Silent,Missense_I1295V,Missense_I1295V,Missense_I1292V,Silent,Missense_I1295V,Silent,Missense_I1295V exm974495 12 2760761 [G/C] NM_001167623,NM_001129843,NM_001129830,NM_001129837,NM_001167625,NM_001129827,NM_001129831,NM_001129840,NM_001129833,NM_001129829,NM_001129846,NM_001129835,NM_001129832,NM_199460,NM_001129839,NM_000719,NM_001129836,NM_001129842,NM_001129844,NM_001129838,NM_001167624,NM_001129834,NM_001129841 CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_P1323A,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm2250829 12 2760829 [T/C] NM_001167623,NM_001129843,NM_001129830,NM_001129837,NM_001167625,NM_001129827,NM_001129831,NM_001129840,NM_001129833,NM_001129829,NM_001129846,NM_001129835,NM_001129832,NM_199460,NM_001129839,NM_000719,NM_001129836,NM_001129842,NM_001129844,NM_001129838,NM_001167624,NM_001129834,NM_001129841 CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C EXON Synonymous_I1323I,Synonymous_I1323I,Synonymous_I1323I,Synonymous_I1312I,Synonymous_I1312I,Synonymous_I1371I,Synonymous_I1351I,Synonymous_I1323I,Synonymous_I1323I,Synonymous_I1345I,Synonymous_I1312I,Synonymous_I1323I,Synonymous_I1343I,Synonymous_I1371I,Synonymous_I1310I,Synonymous_I1323I,Synonymous_I1340I,Synonymous_I1323I,Synonymous_I1320I,Synonymous_I1312I,Synonymous_I1323I,Synonymous_I1323I,Synonymous_I1323I exm2267410 12 2780816 [A/G] NM_001167623,NM_001129843,NM_001129830,NM_001129837,NM_001167625,NM_001129827,NM_001129831,NM_001129840,NM_001129833,NM_001129829,NM_001129846,NM_001129835,NM_001129832,NM_199460,NM_001129839,NM_000719,NM_001129836,NM_001129842,NM_001129844,NM_001129838,NM_001167624,NM_001129834,NM_001129841 CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm974537 12 2788716 [T/C] NM_001167623,NM_001129843,NM_001129830,NM_001129837,NM_001167625,NM_001129827,NM_001129831,NM_001129840,NM_001129833,NM_001129829,NM_001129846,NM_001129835,NM_001129832,NM_199460,NM_001129839,NM_000719,NM_001129836,NM_001129842,NM_001129844,NM_001129838,NM_001167624,NM_001129834,NM_001129841,NR_045725 CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C-AS1 EXON Missense_A1733V,Missense_A1733V,Missense_A1733V,Missense_A1741V,Missense_A1722V,Missense_A1781V,Missense_A1761V,Missense_A1733V,Missense_A1752V,Missense_A1774V,Missense_A1722V,Missense_A1752V,Missense_A1753V,Missense_A1781V,Missense_A1739V,Missense_A1733V,Missense_A1750V,Missense_A1733V,Missense_A1730V,Missense_A1741V,Missense_A1733V,Missense_A1752V,Missense_A1733V,Silent exm974555 12 2788905 [T/C] NM_001167623,NM_001129843,NM_001129830,NM_001129837,NM_001167625,NM_001129827,NM_001129831,NM_001129840,NM_001129833,NM_001129829,NM_001129846,NM_001129835,NM_001129832,NM_199460,NM_001129839,NM_000719,NM_001129836,NM_001129842,NM_001129844,NM_001129838,NM_001167624,NM_001129834,NM_001129841,NR_045725 CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C-AS1 EXON Missense_P1796L,Missense_P1796L,Missense_P1796L,Missense_P1804L,Missense_P1785L,Missense_P1844L,Missense_P1824L,Missense_P1796L,Missense_P1815L,Missense_P1837L,Missense_P1785L,Missense_P1815L,Missense_P1816L,Missense_P1844L,Missense_P1802L,Missense_P1796L,Missense_P1813L,Missense_P1796L,Missense_P1793L,Missense_P1804L,Missense_P1796L,Missense_P1815L,Missense_P1796L,Silent exm974567 12 2791130 [T/C] NM_001167623,NM_001129843,NM_001129830,NM_001129837,NM_001167625,NM_001129827,NM_001129831,NM_001129840,NM_001129833,NM_001129829,NM_001129846,NM_001129835,NM_001129832,NM_199460,NM_001129839,NM_000719,NM_001129836,NM_001129842,NM_001129844,NM_001129838,NM_001167624,NM_001129834,NM_001129841,NR_045725 CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C-AS1 EXON Silent,Silent,Missense_P1820L,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_P1868L,Silent,Silent,Silent,Silent,Silent,Silent,Missense_P1820L,Silent,Silent,Silent exm974571 12 2791205 [A/G] NM_001167623,NM_001129843,NM_001129830,NM_001129837,NM_001167625,NM_001129827,NM_001129831,NM_001129840,NM_001129833,NM_001129829,NM_001129846,NM_001129835,NM_001129832,NM_199460,NM_001129839,NM_000719,NM_001129836,NM_001129842,NM_001129844,NM_001129838,NM_001167624,NM_001129834,NM_001129841,NR_045725 CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C-AS1 EXON Silent,Silent,Missense_K1845R,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_K1893R,Silent,Silent,Silent,Silent,Silent,Silent,Missense_K1845R,Silent,Silent,Silent exm974594 12 2797746 [A/G] NM_001167623,NM_001129843,NM_001129830,NM_001129837,NM_001167625,NM_001129827,NM_001129831,NM_001129840,NM_001129833,NM_001129829,NM_001129846,NM_001129835,NM_001129832,NM_199460,NM_001129839,NM_000719,NM_001129836,NM_001129842,NM_001129844,NM_001129838,NM_001167624,NM_001129834,NM_001129841,NR_045725 CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C-AS1 EXON Missense_R1973Q,Missense_R1973Q,Missense_R2008Q,Missense_R1981Q,Missense_R2033Q,Missense_R2021Q,Missense_R2001Q,Missense_R1973Q,Missense_R1992Q,Missense_R2014Q,Missense_R1962Q,Missense_R1992Q,Missense_R1993Q,Missense_R2056Q,Missense_R1979Q,Missense_R1973Q,Missense_R1990Q,Missense_R1973Q,Missense_R1970Q,Missense_R1981Q,Missense_R2008Q,Missense_R1992Q,Missense_R1973Q,Silent exm974611 12 2800109 [A/G] NM_001167623,NM_001129843,NM_001129830,NM_001129837,NM_001167625,NM_001129827,NM_001129831,NM_001129840,NM_001129833,NM_001129829,NM_001129846,NM_001129835,NM_001129832,NM_199460,NM_001129839,NM_000719,NM_001129836,NM_001129842,NM_001129844,NM_001129838,NM_001167624,NM_001129834,NM_001129841,NR_045725 CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C-AS1 EXON Missense_K2054R,Missense_K2054R,Missense_K2089R,Missense_K2062R,Missense_K2114R,Missense_K2102R,Missense_K2082R,Missense_K2054R,Missense_K2073R,Missense_K2095R,Missense_K2043R,Missense_K2073R,Missense_K2074R,Missense_K2137R,Missense_K2060R,Missense_K2054R,Missense_K2071R,Missense_K2054R,Missense_K2051R,Missense_K2062R,Missense_K2089R,Missense_K2073R,Missense_K2054R,Silent exm974616 12 2800220 [A/G] NM_001167623,NM_001129843,NM_001129830,NM_001129837,NM_001167625,NM_001129827,NM_001129831,NM_001129840,NM_001129833,NM_001129829,NM_001129846,NM_001129835,NM_001129832,NM_199460,NM_001129839,NM_000719,NM_001129836,NM_001129842,NM_001129844,NM_001129838,NM_001167624,NM_001129834,NM_001129841,NR_045725 CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C-AS1 EXON Missense_N2091S,Missense_N2091S,Missense_N2126S,Missense_N2099S,Missense_N2151S,Missense_N2139S,Missense_N2119S,Missense_N2091S,Missense_N2110S,Missense_N2132S,Missense_N2080S,Missense_N2110S,Missense_N2111S,Missense_N2174S,Missense_N2097S,Missense_N2091S,Missense_N2108S,Missense_N2091S,Missense_N2088S,Missense_N2099S,Missense_N2126S,Missense_N2110S,Missense_N2091S,Silent exm-rs10848704 12 2882544 [T/C] exm974638 12 2906332 [A/C] NM_002014 FKBP4 EXON Missense_E45A exm974648 12 2907932 [T/C] NM_002014 FKBP4 EXON Missense_R152C exm1766459 12 2907978 [T/G] NM_002014 FKBP4 EXON Missense_G167V exm974696 12 2921993 [A/G] NM_018463 ITFG2 EXON Missense_I23V exm974716 12 2927438 [A/C] NM_018463 ITFG2 EXON Missense_D134A exm974735 12 2930450 [A/G] NM_018463 ITFG2 EXON Missense_V240M exm974738 12 2930475 [A/G] NM_018463 ITFG2 EXON Missense_R248H exm974740 12 2930714 [A/G] NM_018463 ITFG2 EXON Missense_G267S exm974742 12 2930958 [T/C] NM_018463 ITFG2 EXON Synonymous_T316T exm974757 12 2933298 [T/C] NM_018463 ITFG2 EXON Missense_T428M exm974764 12 2936425 [A/G] NM_031474 NRIP2 EXON Missense_A265V exm974765 12 2936435 [A/G] NM_031474 NRIP2 EXON Missense_R262W exm2250847 12 2937201 [T/C] NM_031474 NRIP2 EXON Synonymous_R197R exm974778 12 2937208 [T/C] NM_031474 NRIP2 EXON Missense_E195G exm1766599 12 2937504 [T/C] NM_031474 NRIP2 EXON Missense_R191H exm974791 12 2940015 [A/C] NM_031474 NRIP2 EXON Missense_S118R exm974797 12 2943902 [T/C] NM_031474 NRIP2 EXON Missense_R83H exm974803 12 2943924 [A/G] NM_031474 NRIP2 EXON Nonsense_R76X exm974806 12 2943942 [T/C] NM_031474 NRIP2 EXON Missense_E70K exm974807 12 2943950 [G/C] NM_031474 NRIP2 EXON Missense_R67T exm974812 12 2944034 [C/G] NM_031474 NRIP2 EXON Missense_P39R exm974813 12 2944049 [A/G] NM_031474 NRIP2 EXON Missense_S34L exm974816 12 2944117 [T/C] NM_031474 NRIP2 EXON Nonsense_W11X exm974832 12 2967949 [T/C] NR_038933,NM_202002,NM_001243088,NM_021953,NM_001243089,NM_202003 LOC100507424,FOXM1,FOXM1,FOXM1,FOXM1,FOXM1 EXON Silent,Missense_R754H,Missense_R701H,Missense_R716H,Missense_R700H,Missense_R701H exm974838 12 2968060 [A/G] NR_038933,NM_202002,NM_001243088,NM_021953,NM_001243089,NM_202003 LOC100507424,FOXM1,FOXM1,FOXM1,FOXM1,FOXM1 EXON Silent,Missense_S717L,Missense_S664L,Missense_S679L,Missense_S663L,Missense_S664L exm974840 12 2968078 [A/G] NR_038933,NM_202002,NM_001243088,NM_021953,NM_001243089,NM_202003 LOC100507424,FOXM1,FOXM1,FOXM1,FOXM1,FOXM1 EXON Silent,Missense_P711L,Missense_P658L,Missense_P673L,Missense_P657L,Missense_P658L exm974843 12 2968090 [C/G] NR_038933,NM_202002,NM_001243088,NM_021953,NM_001243089,NM_202003 LOC100507424,FOXM1,FOXM1,FOXM1,FOXM1,FOXM1 EXON Silent,Missense_P707R,Missense_P654R,Missense_P669R,Missense_P653R,Missense_P654R exm974844 12 2968094 [T/G] NR_038933,NM_202002,NM_001243088,NM_021953,NM_001243089,NM_202003 LOC100507424,FOXM1,FOXM1,FOXM1,FOXM1,FOXM1 EXON Silent,Missense_P706T,Missense_P653T,Missense_P668T,Missense_P652T,Missense_P653T exm974850 12 2968169 [A/G] NR_038933,NM_202002,NM_001243088,NM_021953,NM_001243089,NM_202003 LOC100507424,FOXM1,FOXM1,FOXM1,FOXM1,FOXM1 EXON Silent,Missense_S681P,Missense_S628P,Missense_S643P,Missense_S627P,Missense_S628P exm1766850 12 2968216 [A/G] NR_038933,NM_202002,NM_001243088,NM_021953,NM_001243089,NM_202003 LOC100507424,FOXM1,FOXM1,FOXM1,FOXM1,FOXM1 EXON Silent,Missense_T665M,Missense_T612M,Missense_T627M,Missense_T611M,Missense_T612M exm974852 12 2968282 [A/G] NR_038933,NM_202002,NM_001243088,NM_021953,NM_001243089,NM_202003 LOC100507424,FOXM1,FOXM1,FOXM1,FOXM1,FOXM1 EXON Silent,Missense_T643M,Missense_T590M,Missense_T605M,Missense_T589M,Missense_T590M exm974853 12 2968346 [T/G] NR_038933,NM_202002,NM_001243088,NM_021953,NM_001243089,NM_202003 LOC100507424,FOXM1,FOXM1,FOXM1,FOXM1,FOXM1 EXON Silent,Missense_P622T,Missense_P569T,Missense_P584T,Missense_P568T,Missense_P569T exm974870 12 2968582 [A/G] NR_038933,NM_202002,NM_001243088,NM_021953,NM_001243089,NM_202003 LOC100507424,FOXM1,FOXM1,FOXM1,FOXM1,FOXM1 EXON Silent,Missense_S543L,Missense_S490L,Missense_S505L,Missense_S489L,Missense_S490L exm974873 12 2968627 [A/G] NR_038933,NM_202002,NM_001243088,NM_021953,NM_001243089,NM_202003 LOC100507424,FOXM1,FOXM1,FOXM1,FOXM1,FOXM1 EXON Silent,Missense_P528L,Missense_P475L,Missense_P490L,Missense_P474L,Missense_P475L exm974877 12 2968748 [A/G] NR_038933,NM_202002,NM_001243088,NM_021953,NM_001243089,NM_202003 LOC100507424,FOXM1,FOXM1,FOXM1,FOXM1,FOXM1 EXON Silent,Missense_F488L,Missense_F435L,Missense_F450L,Missense_F434L,Missense_F435L exm2220416 12 2970470 [A/C] NM_202002,NM_001243088,NM_021953,NM_001243089,NM_202003 FOXM1,FOXM1,FOXM1,FOXM1,FOXM1 EXON Missense_L459V,Silent,Silent,Silent,Silent exm974890 12 2973526 [T/C] NM_202002,NM_001243088,NM_021953,NM_001243089,NM_202003 FOXM1,FOXM1,FOXM1,FOXM1,FOXM1 EXON Missense_E409G,Missense_E394G,Missense_E409G,Missense_E393G,Missense_E394G exm974893 12 2973547 [T/G] NM_202002,NM_001243088,NM_021953,NM_001243089,NM_202003 FOXM1,FOXM1,FOXM1,FOXM1,FOXM1 EXON Missense_A402E,Missense_A387E,Missense_A402E,Missense_A386E,Missense_A387E exm974898 12 2973617 [C/G] NM_202002,NM_001243088,NM_021953,NM_001243089,NM_202003 FOXM1,FOXM1,FOXM1,FOXM1,FOXM1 EXON Missense_V379L,Missense_V364L,Missense_V379L,Missense_V363L,Missense_V364L exm2277030 12 2973887 [T/C] NM_202002,NM_001243088,NM_021953,NM_001243089,NM_202003 FOXM1,FOXM1,FOXM1,FOXM1,FOXM1 EXON Missense_R351Q,Missense_R336Q,Missense_R351Q,Missense_R335Q,Missense_R336Q exm1766909 12 2973887 [A/C] NM_202002,NM_001243088,NM_021953,NM_001243089,NM_202003 FOXM1,FOXM1,FOXM1,FOXM1,FOXM1 EXON Missense_R351L,Missense_R336L,Missense_R351L,Missense_R335L,Missense_R336L exm974904 12 2973888 [A/G] NM_202002,NM_001243088,NM_021953,NM_001243089,NM_202003 FOXM1,FOXM1,FOXM1,FOXM1,FOXM1 EXON Missense_R351W,Missense_R336W,Missense_R351W,Missense_R335W,Missense_R336W exm974905 12 2973891 [A/G] NM_202002,NM_001243088,NM_021953,NM_001243089,NM_202003 FOXM1,FOXM1,FOXM1,FOXM1,FOXM1 EXON Missense_R350C,Missense_R335C,Missense_R350C,Missense_R334C,Missense_R335C exm974923 12 2977870 [G/C] NM_202002,NM_001243088,NM_021953,NM_001243089,NM_202003 FOXM1,FOXM1,FOXM1,FOXM1,FOXM1 EXON Missense_E235D,Missense_E234D,Missense_E235D,Missense_E234D,Missense_E235D exm974929 12 2981305 [A/G] NM_202002,NM_001243088,NM_021953,NM_001243089,NM_202003 FOXM1,FOXM1,FOXM1,FOXM1,FOXM1 EXON Missense_M204T,Missense_M203T,Missense_M204T,Missense_M203T,Missense_M204T exm974933 12 2981378 [T/G] NM_202002,NM_001243088,NM_021953,NM_001243089,NM_202003 FOXM1,FOXM1,FOXM1,FOXM1,FOXM1 EXON Missense_S180R,Missense_S179R,Missense_S180R,Missense_S179R,Missense_S180R exm974935 12 2983155 [A/G] NM_202002,NM_001243088,NM_021953,NM_001243089,NM_202003 FOXM1,FOXM1,FOXM1,FOXM1,FOXM1 EXON Missense_R164W,Missense_R164W,Missense_R164W,Missense_R164W,Missense_R164W exm974937 12 2983220 [T/C] NM_202002,NM_001243088,NM_021953,NM_001243089,NM_202003 FOXM1,FOXM1,FOXM1,FOXM1,FOXM1 EXON Missense_G142E,Missense_G142E,Missense_G142E,Missense_G142E,Missense_G142E exm974939 12 2983280 [T/C] NM_202002,NM_001243088,NM_021953,NM_001243089,NM_202003 FOXM1,FOXM1,FOXM1,FOXM1,FOXM1 EXON Missense_R122Q,Missense_R122Q,Missense_R122Q,Missense_R122Q,Missense_R122Q exm974999 12 3018708 [A/G] NM_003324,NM_001160408 TULP3,TULP3 EXON Missense_E19K,Missense_E19K exm975012 12 3031428 [A/G] NM_003324,NM_001160408 TULP3,TULP3 EXON Missense_G85D,Missense_G85D exm975014 12 3031460 [C/G] NM_003324,NM_001160408 TULP3,TULP3 EXON Missense_D96H,Missense_D96H exm975015 12 3031493 [A/G] NM_003324,NM_001160408 TULP3,TULP3 EXON Missense_V107I,Missense_V107I exm1767083 12 3039437 [A/G] NM_003324,NM_001160408 TULP3,TULP3 EXON Missense_D140N,Missense_D140N exm975025 12 3040269 [A/G] NM_003324,NM_001160408 TULP3,TULP3 EXON Missense_D187N,Missense_D187N exm1767094 12 3040323 [T/C] NM_003324,NM_001160408 TULP3,TULP3 EXON Missense_R205W,Missense_R205W exm975028 12 3040341 [A/G] NM_003324,NM_001160408 TULP3,TULP3 EXON Missense_R211G,Missense_R211G exm975030 12 3040354 [A/G] NM_003324,NM_001160408 TULP3,TULP3 EXON Missense_R215Q,Missense_R215Q exm1767105 12 3042666 [A/G] NM_003324,NM_001160408 TULP3,TULP3 EXON Missense_R260H,Missense_R260H exm975043 12 3043686 [A/G] NM_003324,NM_001160408 TULP3,TULP3 EXON Missense_G295R,Missense_G295R exm975044 12 3043690 [A/C] NM_003324,NM_001160408 TULP3,TULP3 EXON Missense_A296E,Missense_A296E exm975048 12 3046797 [G/C] NM_003324,NM_001160408 TULP3,TULP3 EXON Missense_E309Q,Missense_E309Q exm2220423 12 3046882 [A/G] NM_003324,NM_001160408 TULP3,TULP3 EXON Missense_Y337C,Missense_Y337C exm975053 12 3046896 [A/G] NM_003324,NM_001160408 TULP3,TULP3 Silent,Silent exm975059 12 3047365 [C/G] NM_003324,NM_001160408 TULP3,TULP3 EXON Missense_S370T,Missense_S370T exm975061 12 3047395 [A/G] NM_003324,NM_001160408 TULP3,TULP3 EXON Missense_R380H,Missense_R380H exm975065 12 3047450 [T/C] NM_003324,NM_001160408 TULP3,TULP3 EXON Synonymous_D398D,Synonymous_D398D exm975069 12 3048548 [T/C] NM_003324,NM_001160408 TULP3,TULP3 EXON Missense_C423R,Missense_C423R exm975071 12 3048591 [G/C] NM_003324,NM_001160408 TULP3,TULP3 EXON Missense_S437T,Silent exm975076 12 3049698 [T/C] NM_003324,NM_001160408 TULP3,TULP3 EXON Silent,Missense_C438R exm975080 12 3049797 [T/G] NM_003324,NM_001160408 TULP3,TULP3 EXON Silent,Nonsense_G471X exm975082 12 3049867 [T/C] NM_003324,NM_001160408 TULP3,TULP3 EXON Silent,Missense_P494L exm2267411 12 3076665 [A/G] NM_003213,NM_201441,NM_201443 TEAD4,TEAD4,TEAD4 Silent,Silent,Silent exm975090 12 3104098 [A/G] NM_003213,NM_201441,NM_201443 TEAD4,TEAD4,TEAD4 EXON Missense_A56T,Missense_A56T,Silent exm975093 12 3104142 [C/G] NM_003213,NM_201441,NM_201443 TEAD4,TEAD4,TEAD4 EXON Missense_D70E,Missense_D70E,Silent exm975100 12 3126630 [A/G] NM_003213,NM_201441,NM_201443 TEAD4,TEAD4,TEAD4 EXON Missense_A141T,Silent,Missense_A12T exm975102 12 3126672 [A/G] NM_003213,NM_201441,NM_201443 TEAD4,TEAD4,TEAD4 EXON Missense_G155S,Silent,Missense_G26S exm975104 12 3126676 [A/G] NM_003213,NM_201441,NM_201443 TEAD4,TEAD4,TEAD4 EXON Missense_R156H,Silent,Missense_R27H exm975107 12 3126691 [A/G] NM_003213,NM_201441,NM_201443 TEAD4,TEAD4,TEAD4 EXON Missense_G161E,Silent,Missense_G32E exm975124 12 3129866 [A/G] NM_003213,NM_201441,NM_201443 TEAD4,TEAD4,TEAD4 EXON Missense_R217H,Missense_R174H,Missense_R88H exm975128 12 3129932 [T/C] NM_003213,NM_201441,NM_201443 TEAD4,TEAD4,TEAD4 EXON Missense_P239L,Missense_P196L,Missense_P110L exm975133 12 3131088 [T/C] NM_003213,NM_201441,NM_201443 TEAD4,TEAD4,TEAD4 EXON Missense_R268C,Missense_R225C,Missense_R139C exm975138 12 3131146 [A/G] NM_003213,NM_201441,NM_201443 TEAD4,TEAD4,TEAD4 EXON Missense_R287Q,Missense_R244Q,Missense_R158Q exm975144 12 3147203 [T/C] NM_003213,NM_201441,NM_201443 TEAD4,TEAD4,TEAD4 EXON Missense_P323S,Missense_P280S,Missense_P194S exm975147 12 3147222 [T/C] NM_003213,NM_201441,NM_201443 TEAD4,TEAD4,TEAD4 EXON Missense_T329I,Missense_T286I,Missense_T200I exm975148 12 3147228 [T/C] NM_003213,NM_201441,NM_201443 TEAD4,TEAD4,TEAD4 EXON Missense_S331F,Missense_S288F,Missense_S202F exm975150 12 3149285 [T/C] NM_003213,NM_201441,NM_201443 TEAD4,TEAD4,TEAD4 EXON Missense_R351C,Missense_R308C,Missense_R222C exm2250873 12 3250797 [T/C] NM_001168320,NM_006675 TSPAN9,TSPAN9 Silent,Silent exm1768399 12 3310411 [A/T] NM_001168320,NM_006675 TSPAN9,TSPAN9 EXON Missense_L18M,Missense_L18M exm975181 12 3387778 [T/C] NM_001168320,NM_006675 TSPAN9,TSPAN9 EXON Synonymous_S85S,Synonymous_S85S exm2250886 12 3389590 [T/C] NM_001168320,NM_006675 TSPAN9,TSPAN9 EXON Synonymous_L125L,Synonymous_L125L exm975197 12 3390467 [A/G] NM_001168320,NM_006675 TSPAN9,TSPAN9 EXON Missense_R179H,Missense_R179H exm975204 12 3390955 [T/C] NM_001168320,NM_006675 TSPAN9,TSPAN9 EXON Missense_T207M,Missense_T207M exm975213 12 3392223 [A/G] NM_001168320,NM_006675 TSPAN9,TSPAN9 EXON Missense_A221T,Missense_A221T exm2267312 12 3430559 [A/G] exm975229 12 3649823 [A/G] NM_001256536,NM_019854 PRMT8,PRMT8 EXON Missense_V34M,Missense_V43M exm975248 12 3678685 [A/G] NM_001256536,NM_019854 PRMT8,PRMT8 EXON Missense_V214M,Missense_V223M exm975280 12 3724583 [T/C] NM_001144958 EFCAB4B EXON Missense_T712A exm975283 12 3728459 [C/G] NM_001144958 EFCAB4B EXON Missense_G671A exm975286 12 3728522 [T/C] NM_001144958 EFCAB4B EXON Missense_R650Q exm975305 12 3747435 [T/C] NM_001144958 EFCAB4B EXON Missense_G486D exm975307 12 3747472 [T/C] NM_001144958 EFCAB4B EXON Missense_V474I exm2276222 12 3747496 [A/G] NM_001144958 EFCAB4B EXON Missense_R466W exm-rs887304 12 3757548 [T/C] NM_001144958,NM_032680 EFCAB4B,EFCAB4B EXON Silent,Silent exm975330 12 3757654 [A/G] NM_001144958,NM_032680 EFCAB4B,EFCAB4B EXON Silent,Missense_S391L exm975334 12 3757736 [T/C] NM_001144958,NM_032680 EFCAB4B,EFCAB4B EXON Missense_G364R,Missense_G364R exm975348 12 3765493 [T/G] NM_001144958,NM_032680 EFCAB4B,EFCAB4B EXON Missense_T281N,Missense_T281N exm975352 12 3765551 [A/G] NM_001144958,NM_032680 EFCAB4B,EFCAB4B EXON Missense_R262C,Missense_R262C exm975361 12 3782742 [A/G] NM_001144958,NM_032680 EFCAB4B,EFCAB4B EXON Nonsense_Q181X,Nonsense_Q181X exm975363 12 3788091 [T/C] NM_001144958,NM_032680 EFCAB4B,EFCAB4B EXON Missense_V172M,Missense_V172M exm975368 12 3788145 [T/C] NM_001144958,NM_032680 EFCAB4B,EFCAB4B EXON Missense_E154K,Missense_E154K exm975370 12 3788162 [A/T] NM_001144958,NM_032680 EFCAB4B,EFCAB4B EXON Missense_D148V,Missense_D148V exm975372 12 3788198 [T/G] NM_001144958,NM_032680 EFCAB4B,EFCAB4B EXON Missense_H136P,Missense_H136P exm975376 12 3788222 [A/G] NM_001144958,NM_032680 EFCAB4B,EFCAB4B EXON Missense_A128V,Missense_A128V exm975380 12 3789452 [T/C] NM_001144958,NM_032680 EFCAB4B,EFCAB4B EXON Missense_A98T,Missense_A98T exm975384 12 3805955 [T/C] NM_001144958,NM_032680 EFCAB4B,EFCAB4B EXON Missense_A71T,Missense_A71T exm975386 12 3805977 [A/C] NM_001144958,NM_032680 EFCAB4B,EFCAB4B EXON Missense_D63E,Missense_D63E exm975393 12 3806147 [T/C] NM_001144958,NM_032680 EFCAB4B,EFCAB4B EXON Missense_R7G,Missense_R7G exm-rs10848911 12 3814238 [A/G] NM_001144958,NM_032680 EFCAB4B,EFCAB4B Silent,Silent exm-rs10774171 12 3868309 [A/G] exm975409 12 3931144 [T/C] NM_020367 PARP11 EXON Missense_H148R exm2250928 12 4007324 [T/G] exm-rs4238010 12 4118317 [A/G] exm2267412 12 4229988 [A/G] exm-rs11611647 12 4333919 [T/C] exm-rs11063069 12 4374373 [A/G] exm975441 12 4388084 [C/G] NM_001759 CCND2 EXON Synonymous_T190T exm975450 12 4409090 [A/G] NM_001759 CCND2 EXON Missense_R262H exm975451 12 4409105 [A/T] NM_001759 CCND2 EXON Missense_D267V exm-rs10849033 12 4425122 [A/G] exm975470 12 4458992 [A/G] NM_020375 C12orf5 EXON Missense_H67R exm975473 12 4459031 [T/C] NM_020375 C12orf5 EXON Missense_T80M exm975476 12 4460520 [T/C] NM_020375 C12orf5 EXON Missense_P120S exm975479 12 4461594 [A/C] NM_020375 C12orf5 EXON Missense_S184R exm975484 12 4461695 [A/C] NM_020375 C12orf5 EXON Missense_L217F exm1771693 12 4461781 [A/G] NM_020375 C12orf5 EXON Missense_R246K exm975489 12 4461796 [T/C] NM_020375 C12orf5 EXON Missense_T251M exm975505 12 4479714 [T/C] NM_020638 FGF23 EXON Missense_D184G exm2267313 12 4496280 [A/G] exm975531 12 4543445 [T/C] NM_020996 FGF6 EXON Missense_R188Q exm975536 12 4543487 [A/T] NM_020996 FGF6 EXON Missense_D174V exm975538 12 4543523 [A/G] NM_020996 FGF6 EXON Missense_T162I exm975541 12 4553300 [A/G] NM_020996 FGF6 EXON Missense_T150M exm975542 12 4553304 [T/C] NM_020996 FGF6 EXON Missense_A149T exm975543 12 4553305 [A/G] NM_020996 FGF6 EXON Synonymous_Y148Y exm2250964 12 4553305 [A/G] NM_020996 FGF6 EXON Synonymous_Y148Y exm975549 12 4553361 [C/G] NM_020996 FGF6 EXON Missense_L130V exm975556 12 4553391 [T/C] NM_020996 FGF6 EXON Missense_I120V exm975571 12 4554550 [T/C] NM_020996 FGF6 EXON Missense_A63T exm975575 12 4554630 [A/G] NM_020996 FGF6 EXON Missense_V36A exm975576 12 4554651 [A/C] NM_020996 FGF6 EXON Missense_G29V exm975581 12 4599010 [T/C] NM_020374 C12orf4 EXON Missense_R541Q exm-rs2970818 12 4606168 [A/T] NM_020374 C12orf4 Silent exm975599 12 4626307 [A/G] NM_020374 C12orf4 EXON Missense_I361T exm975605 12 4628009 [A/G] NM_020374 C12orf4 EXON Missense_S256P exm975616 12 4639062 [T/C] NM_020374 C12orf4 EXON Missense_D160G exm975621 12 4643336 [T/C] NM_020374 C12orf4 EXON Missense_K104R exm975625 12 4645273 [A/C] NM_020374 C12orf4 EXON Missense_V30L exm975626 12 4645311 [T/C] NM_020374 C12orf4 EXON Missense_Y17C exm975633 12 4651060 [C/G] NM_001130862,NM_006479 RAD51AP1,RAD51AP1 EXON Missense_P10A,Missense_P10A exm975634 12 4651098 [T/C] NM_001130862,NM_006479 RAD51AP1,RAD51AP1 EXON Synonymous_D22D,Synonymous_D22D exm975640 12 4653063 [A/C] NM_001130862,NM_006479 RAD51AP1,RAD51AP1 EXON Missense_K68Q,Missense_K68Q exm975648 12 4655498 [A/G] NM_001130862,NM_006479 RAD51AP1,RAD51AP1 EXON Missense_Y95C,Missense_Y78C exm975650 12 4655540 [A/G] NM_001130862,NM_006479 RAD51AP1,RAD51AP1 EXON Missense_E109G,Missense_E92G exm975660 12 4657882 [A/G] NM_001130862,NM_006479 RAD51AP1,RAD51AP1 EXON Missense_V163I,Missense_V146I exm975675 12 4665519 [T/C] NM_001130862,NM_006479 RAD51AP1,RAD51AP1 EXON Missense_V258A,Missense_V241A exm975679 12 4668029 [T/C] NM_001130862,NM_006479 RAD51AP1,RAD51AP1 EXON Missense_S310F,Missense_S293F exm975680 12 4668031 [A/G] NM_001130862,NM_006479 RAD51AP1,RAD51AP1 EXON Missense_G311R,Missense_G294R exm975683 12 4668130 [A/C] NM_001130862,NM_006479 RAD51AP1,RAD51AP1 EXON Missense_P344T,Missense_P327T exm975684 12 4668155 [T/C] NM_001130862,NM_006479 RAD51AP1,RAD51AP1 EXON Missense_T352I,Missense_T335I exm975691 12 4700380 [T/C] NM_003845 DYRK4 EXON Missense_P12S exm975695 12 4702211 [A/T] NM_003845 DYRK4 EXON Missense_Q54H exm975696 12 4702230 [A/G] NM_003845 DYRK4 EXON Missense_A61T exm975709 12 4705795 [A/G] NM_003845 DYRK4 EXON Missense_A154T exm975713 12 4705880 [T/C] NM_003845 DYRK4 EXON Missense_T182I exm975715 12 4708199 [A/G] NM_003845 DYRK4 EXON Missense_N189S exm975716 12 4708258 [T/C] NM_003845 DYRK4 EXON Missense_R209C exm975723 12 4708874 [A/G] NM_003845 DYRK4 EXON Missense_E234G exm-IND12-4584372 12 4714112 [I/D] NM_003845 DYRK4 EXON exm1772634 12 4714247 [T/A] NM_003845 DYRK4 EXON Missense_M317L exm975751 12 4721752 [A/C] NM_003845 DYRK4 EXON Missense_H397N exm975758 12 4722717 [T/A] NM_003845 DYRK4 EXON Missense_D454V exm975762 12 4722822 [T/C] NM_003845 DYRK4 EXON Missense_S489L exm975768 12 4724934 [C/G] NM_006422 AKAP3 EXON Missense_L845V exm975772 12 4724966 [T/C] NM_006422 AKAP3 EXON Missense_N834S exm975774 12 4724976 [A/G] NM_006422 AKAP3 EXON Missense_R831C exm975777 12 4724999 [A/G] NM_006422 AKAP3 EXON Missense_S823L exm975782 12 4735742 [T/C] NM_006422 AKAP3 EXON Missense_V776I exm975786 12 4735801 [T/G] NM_006422 AKAP3 EXON Missense_T756K exm975791 12 4735894 [A/G] NM_006422 AKAP3 EXON Missense_S725L exm2250985 12 4735968 [A/C] NM_006422 AKAP3 EXON Synonymous_S700S exm975796 12 4735970 [A/G] NM_006422 AKAP3 EXON Missense_S700P exm975799 12 4736086 [A/G] NM_006422 AKAP3 EXON Missense_I661T exm975801 12 4736125 [T/C] NM_006422 AKAP3 EXON Missense_G648D exm975802 12 4736128 [A/G] NM_006422 AKAP3 EXON Missense_P647L exm975803 12 4736135 [T/C] NM_006422 AKAP3 EXON Missense_E645K exm975804 12 4736146 [T/A] NM_006422 AKAP3 EXON Missense_Y641F exm975808 12 4736164 [T/G] NM_006422 AKAP3 EXON Missense_S635Y exm975817 12 4736272 [T/C] NM_006422 AKAP3 EXON Missense_R599Q exm975824 12 4736495 [T/C] NM_006422 AKAP3 EXON Missense_E525K exm975827 12 4736569 [A/G] NM_006422 AKAP3 EXON Missense_I500T exm975831 12 4736677 [G/C] NM_006422 AKAP3 EXON Missense_T464S exm2220525 12 4736798 [T/C] NM_006422 AKAP3 EXON Missense_M424V exm975844 12 4736996 [T/C] NM_006422 AKAP3 EXON Missense_V358M exm975849 12 4737094 [A/T] NM_006422 AKAP3 EXON Missense_H325L exm975852 12 4737151 [A/G] NM_006422 AKAP3 EXON Missense_I306T exm975860 12 4737404 [T/C] NM_006422 AKAP3 EXON Missense_E222K exm975864 12 4737488 [T/C] NM_006422 AKAP3 EXON Missense_K194E exm975869 12 4737587 [T/C] NM_006422 AKAP3 EXON Missense_M161V exm1772795 12 4737673 [A/G] NM_006422 AKAP3 EXON Missense_T132M exm975874 12 4737715 [T/C] NM_006422 AKAP3 EXON Missense_G118E exm975875 12 4737727 [T/C] NM_006422 AKAP3 EXON Missense_Q114R exm975876 12 4737736 [A/G] NM_006422 AKAP3 EXON Missense_P111L exm975878 12 4737808 [T/G] NM_006422 AKAP3 EXON Missense_N87T exm975885 12 4737937 [T/C] NM_006422 AKAP3 EXON Nonsense_W44X exm975887 12 4747319 [T/C] NM_006422 AKAP3 EXON Missense_C15Y exm975890 12 4758305 [G/C] NM_005002 NDUFA9 EXON Missense_A5P exm975893 12 4763466 [A/G] NM_005002 NDUFA9 EXON Missense_I20V exm975899 12 4763575 [T/C] NM_005002 NDUFA9 EXON Missense_A56V exm1772935 12 4763994 [A/G] NM_005002 NDUFA9 EXON Missense_R75H exm975900 12 4764023 [T/C] NM_005002 NDUFA9 EXON Missense_R85W exm975901 12 4764059 [A/G] NM_005002 NDUFA9 EXON Missense_M97V exm975910 12 4768306 [T/C] NM_005002 NDUFA9 EXON Missense_A172V exm975920 12 4771747 [A/G] NM_005002 NDUFA9 EXON Missense_V201I exm975929 12 4777689 [A/G] NM_005002 NDUFA9 EXON Missense_Y241C exm975933 12 4791379 [A/G] NM_005002 NDUFA9 EXON Missense_R270Q exm975939 12 4791420 [A/G] NM_005002 NDUFA9 EXON Missense_A284T exm975940 12 4791451 [T/C] NM_005002 NDUFA9 EXON Missense_P294L exm975942 12 4794470 [A/G] NM_005002 NDUFA9 EXON Missense_I314M exm975947 12 4796271 [T/G] NM_005002 NDUFA9 EXON Missense_I377M exm975950 12 4829956 [T/C] NM_017417 GALNT8 EXON Missense_T38M exm975953 12 4829980 [G/C] NM_017417 GALNT8 EXON Missense_P46R exm975954 12 4829997 [T/C] NM_017417 GALNT8 EXON Missense_R52C exm975955 12 4830000 [T/G] NM_017417 GALNT8 EXON Missense_Y53D exm975965 12 4835896 [A/G] NM_017417 GALNT8 EXON Missense_Q137R exm2251000 12 4835936 [T/C] NM_017417 GALNT8 EXON Synonymous_N150N exm975967 12 4835967 [T/C] NM_017417 GALNT8 EXON Missense_R161C exm975977 12 4848429 [A/G] NM_017417 GALNT8 EXON Missense_I204V exm975979 12 4848450 [C/G] NM_017417 GALNT8 EXON Missense_R211G exm975981 12 4853706 [A/G] NM_017417 GALNT8 EXON Missense_E234K exm975984 12 4853740 [A/G] NM_017417 GALNT8 EXON Missense_G245E exm975986 12 4853757 [T/C] NM_017417 GALNT8 EXON Missense_R251W exm975990 12 4853806 [A/G] NM_017417 GALNT8 EXON Missense_E267G exm975999 12 4854669 [T/C] NM_017417 GALNT8 EXON Missense_F312S exm976002 12 4854722 [A/G] NM_017417 GALNT8 EXON Missense_E330K exm976004 12 4854740 [A/G] NM_017417 GALNT8 EXON Missense_D336N exm976011 12 4855393 [A/G] NM_017417 GALNT8 EXON Missense_Y381C exm976017 12 4870175 [T/C] NM_017417 GALNT8 EXON Missense_H409Y exm2220549 12 4870217 [A/G] NM_017417 GALNT8 EXON Missense_A423T exm976022 12 4870233 [A/G] NM_017417 GALNT8 EXON Missense_N428S exm2275388 12 4870241 [T/C] NM_017417 GALNT8 EXON Nonsense_R431X exm976024 12 4870307 [T/C] NM_017417 GALNT8 EXON Nonsense_Q453X exm976025 12 4872457 [C/G] NM_017417 GALNT8 EXON Missense_M466I exm976030 12 4873163 [T/G] NM_017417 GALNT8 EXON Missense_V515F exm976043 12 4874692 [A/G] NM_017417 GALNT8 EXON Missense_I581V exm976044 12 4874711 [C/G] NM_017417 GALNT8 EXON Missense_P587R exm1773949 12 4874712 [A/G] NM_017417 GALNT8 EXON Synonymous_P587P exm976046 12 4881610 [T/G] NM_017417 GALNT8 Silent exm976050 12 4881680 [A/G] NM_017417 GALNT8 EXON Missense_V611M exm976054 12 4881738 [A/G] NM_017417 GALNT8 EXON Missense_D630G exm2220558 12 4919313 [G/C] NM_002235 KCNA6 EXON Missense_G36R exm976108 12 5020680 [A/C] NM_000217 KCNA1 EXON Missense_L46M exm976127 12 5021155 [A/G] NM_000217 KCNA1 EXON Missense_R204H exm976153 12 5021871 [C/G] NM_000217 KCNA1 EXON Missense_R443G exm2267314 12 5022041 [A/G] NM_000217 KCNA1 EXON Silent exm976185 12 5153946 [C/G] NM_002234 KCNA5 EXON Missense_E211D exm976186 12 5153947 [T/C] NM_002234 KCNA5 EXON Missense_R212C exm976201 12 5154172 [T/G] NM_002234 KCNA5 EXON Missense_A287S exm976202 12 5154173 [T/C] NM_002234 KCNA5 EXON Missense_A287V exm976208 12 5154242 [T/C] NM_002234 KCNA5 EXON Missense_P310L exm1775841 12 5154893 [T/C] NM_002234 KCNA5 EXON Missense_T527M exm976234 12 5154985 [A/G] NM_002234 KCNA5 EXON Missense_G558R exm976235 12 5155016 [T/G] NM_002234 KCNA5 EXON Missense_G568V exm976237 12 5155043 [A/G] NM_002234 KCNA5 EXON Missense_R577Q exm976238 12 5155046 [A/G] NM_002234 KCNA5 EXON Missense_R578K exm976244 12 5155103 [A/G] NM_002234 KCNA5 EXON Missense_R597Q exm2267413 12 5300031 [A/G] exm976252 12 5603540 [A/G] NM_001102654,NM_002527 NTF3,NTF3 EXON Missense_D67N,Missense_D54N exm976257 12 5603607 [A/G] NM_001102654,NM_002527 NTF3,NTF3 EXON Missense_G89E,Missense_G76E exm2251076 12 5603632 [A/G] NM_001102654,NM_002527 NTF3,NTF3 EXON Synonymous_P97P,Synonymous_P84P exm976274 12 5603970 [A/G] NM_001102654,NM_002527 NTF3,NTF3 EXON Missense_E210G,Missense_E197G exm976276 12 5603981 [T/G] NM_001102654,NM_002527 NTF3,NTF3 EXON Missense_V214F,Missense_V201F exm976281 12 5672475 [A/G] NM_020373 ANO2 EXON Missense_T996I exm976284 12 5672493 [A/G] NM_020373 ANO2 EXON Missense_S990L exm976285 12 5672534 [A/G] NM_020373 ANO2 EXON Synonymous_S976S exm2251083 12 5672534 [A/G] NM_020373 ANO2 EXON Synonymous_S976S exm976286 12 5672542 [C/G] NM_020373 ANO2 EXON Missense_A974P exm976287 12 5672577 [T/C] NM_020373 ANO2 EXON Missense_R962K exm976289 12 5672586 [A/G] NM_020373 ANO2 EXON Missense_P959L exm976297 12 5674749 [T/C] NM_020373 ANO2 EXON Missense_R901H exm976319 12 5687598 [A/G] NM_020373 ANO2 EXON Missense_R774W exm976321 12 5687610 [T/C] NM_020373 ANO2 EXON Missense_V770I exm976327 12 5708682 [T/C] NM_020373 ANO2 EXON Missense_Y734C exm976331 12 5708755 [T/C] NM_020373 ANO2 EXON Missense_E710K exm976333 12 5708775 [T/C] NM_020373 ANO2 EXON Missense_R703Q exm976336 12 5721910 [A/C] NM_020373 ANO2 EXON Missense_G667C exm976337 12 5724358 [T/C] NM_020373 ANO2 EXON Missense_K641R exm976341 12 5724427 [A/G] NM_020373 ANO2 EXON Missense_L618P exm976343 12 5724461 [T/C] NM_020373 ANO2 EXON Missense_V607I exm976345 12 5744335 [T/C] NM_020373 ANO2 EXON Missense_K600R exm976348 12 5744355 [C/G] NM_020373 ANO2 EXON Missense_E593D exm976353 12 5744450 [A/G] NM_020373 ANO2 EXON Synonymous_L562L exm976358 12 5744495 [T/C] NM_020373 ANO2 EXON Missense_I547V exm-rs12579350 12 5797101 [A/G] NM_020373 ANO2 Silent exm976367 12 5841733 [A/C] NM_020373 ANO2 EXON Missense_S500A exm976373 12 5842031 [C/G] NM_020373 ANO2 Silent exm976374 12 5842040 [A/G] NM_020373 ANO2 EXON Missense_R476C exm976377 12 5848502 [A/G] NM_020373 ANO2 EXON Missense_T468I exm976378 12 5848509 [T/C] NM_020373 ANO2 EXON Missense_D466N exm976379 12 5848526 [T/C] NM_020373 ANO2 EXON Missense_R460Q exm976380 12 5848527 [A/G] NM_020373 ANO2 EXON Nonsense_R460X exm976386 12 5853388 [A/G] NM_020373 ANO2 EXON Missense_A425V exm976388 12 5853474 [T/C] NM_020373 ANO2 EXON Missense_M396I exm976391 12 5860057 [T/A] NM_020373 ANO2 EXON Missense_I375F exm976392 12 5860113 [A/C] NM_020373 ANO2 EXON Missense_G356V exm976409 12 5941617 [T/C] NM_020373 ANO2 Silent exm976420 12 5963279 [T/C] NM_020373 ANO2 EXON Missense_R184Q exm976421 12 5963300 [T/C] NM_020373 ANO2 EXON Missense_S177N exm976425 12 6030276 [T/C] NM_020373 ANO2 EXON Missense_R151K exm976426 12 6030295 [T/C] NM_020373 ANO2 EXON Missense_D145N exm976428 12 6030301 [A/G] NM_020373 ANO2 EXON Missense_P143S exm976430 12 6030313 [T/C] NM_020373 ANO2 EXON Missense_I139V exm976437 12 6030405 [A/G] NM_020373 ANO2 EXON Missense_V108A exm976439 12 6030412 [A/G] NM_020373 ANO2 EXON Missense_R106C exm976442 12 6030474 [T/C] NM_020373 ANO2 EXON Missense_R85H exm976450 12 6031943 [T/C] NM_020373 ANO2 EXON Missense_R13H exm976451 12 6031952 [G/C] NM_020373 ANO2 EXON Missense_G10A exm976453 12 6031964 [A/G] NM_020373 ANO2 EXON Missense_P6L exm976455 12 6058245 [A/G] NM_000552 VWF EXON Missense_V2793A exm1781530 12 6058257 [A/G] NM_000552 VWF EXON Missense_T2789I exm976469 12 6061559 [T/C] NM_000552 VWF EXON Missense_G2705R exm2251107 12 6061578 [T/C] NM_000552 VWF EXON Synonymous_E2698E exm976471 12 6061588 [C/G] NM_000552 VWF EXON Missense_P2695R exm976475 12 6061636 [T/C] NM_000552 VWF EXON Missense_N2679S exm976477 12 6061675 [A/G] NM_000552 VWF EXON Missense_T2666M exm976478 12 6061684 [C/G] NM_000552 VWF EXON Missense_R2663P exm2263502 12 6062702 [A/C] NM_000552 VWF EXON Missense_C2649F exm976481 12 6062708 [A/G] NM_000552 VWF EXON Missense_T2647M exm976485 12 6076663 [T/G] NM_000552 VWF EXON Missense_P2626T exm976488 12 6076765 [T/C] NM_000552 VWF EXON Missense_G2592R exm976500 12 6078408 [T/C] NM_000552 VWF EXON Synonymous_K2566K exm2251109 12 6078408 [T/C] NM_000552 VWF EXON Synonymous_K2566K exm976501 12 6078424 [A/T] NM_000552 VWF EXON Missense_F2561Y exm976504 12 6078487 [A/G] NM_000552 VWF EXON Missense_V2540A exm976515 12 6085281 [T/C] NM_000552 VWF EXON Missense_R2478Q exm976518 12 6085324 [A/G] NM_000552 VWF EXON Missense_R2464C exm1781568 12 6085388 [A/C] NM_000552 VWF EXON Missense_Q2442H exm976535 12 6091089 [A/G] NM_000552 VWF EXON Missense_R2384W exm976544 12 6092317 [A/G] NM_000552 VWF EXON Synonymous_C2360C exm976545 12 6092338 [C/G] NM_000552 VWF EXON Missense_E2353D exm976548 12 6092372 [T/C] NM_000552 VWF EXON Missense_R2342H exm976553 12 6094222 [A/T] NM_000552 VWF EXON Missense_E2322V exm976555 12 6094249 [T/C] NM_000552 VWF EXON Missense_R2313H exm976556 12 6094250 [A/G] NM_000552 VWF EXON Missense_R2313C exm976578 12 6103072 [T/C] NM_000552 VWF EXON Missense_R2185Q exm976579 12 6103094 [A/C] NM_000552 VWF EXON Missense_A2178S exm976600 12 6103650 [A/G] NM_000552 VWF EXON Missense_P2063S exm2220961 12 6103733 [T/C] NM_000552 VWF EXON Missense_G2035D exm976611 12 6105380 [T/C] NM_000552 VWF EXON Missense_T1951A exm976613 12 6105387 [A/G] NM_000552 VWF EXON Synonymous_C1948C exm2263511 12 6120958 [A/G] NM_000552 VWF EXON Synonymous_P1889P exm976638 12 6125326 [A/G] NM_000552 VWF EXON Missense_A1795V exm2263512 12 6125397 [A/C] NM_000552 VWF EXON Synonymous_G1771G exm976654 12 6125820 [A/G] NM_000552 VWF EXON Missense_P1725S exm976674 12 6127833 [T/C] NM_000552 VWF EXON Missense_Y1584C exm2263516 12 6128280 [T/C] NM_000552 VWF EXON Missense_N1435S exm2263518 12 6128443 [T/C] NM_000552 VWF EXON Missense_T1381A exm976715 12 6128446 [T/C] NM_000552 VWF EXON Missense_I1380V exm976716 12 6128454 [A/G] NM_000552 VWF EXON Missense_A1377V exm976717 12 6128481 [A/G] NM_000552 VWF EXON Missense_I1368T exm976752 12 6132797 [A/G] NM_000552 VWF EXON Missense_P1127S exm1781671 12 6132811 [A/G] NM_000552 VWF EXON Missense_T1122M exm976765 12 6135091 [T/C] NM_000552 VWF EXON Missense_Q1030R exm976773 12 6138575 [T/C] NM_000552 VWF EXON Missense_G967D exm976778 12 6138636 [T/C] NM_000552 VWF EXON Missense_M947V exm976780 12 6140615 [T/C] NM_000552 VWF EXON Missense_G939R exm976783 12 6140659 [T/C] NM_000552 VWF EXON Missense_R924Q exm976786 12 6140746 [T/G] NM_000552 VWF Silent exm976793 12 6143913 [A/G] NM_000552 VWF EXON Missense_L876F exm976798 12 6143978 [T/C] NM_000552 VWF EXON Missense_R854Q exm976799 12 6143984 [T/C] NM_000552 VWF EXON Missense_Q852R exm976805 12 6145590 [T/G] NM_000552 VWF EXON Missense_A837D exm976810 12 6145649 [T/A] NM_000552 VWF EXON Missense_H817Q exm976816 12 6153534 [T/C] NM_000552 VWF EXON Missense_T789A exm976819 12 6153559 [G/C] NM_000552 VWF EXON Missense_N780K exm976829 12 6155950 [T/C] NM_000552 VWF EXON Missense_M740I exm976836 12 6161824 [T/G] NM_000552 VWF EXON Missense_P691T exm976839 12 6161871 [A/G] NM_000552 VWF EXON Missense_P675L exm2263529 12 6161893 [T/G] NM_000552 VWF EXON Missense_T668P exm976848 12 6166151 [T/C] NM_000552 VWF EXON Missense_R606Q exm976853 12 6166215 [T/C] NM_000552 VWF EXON Missense_A585T exm976854 12 6167016 [A/C] NM_000552 VWF EXON Missense_M576I exm976858 12 6167119 [G/C] NM_000552 VWF EXON Missense_A542G exm976860 12 6167131 [A/G] NM_000552 VWF EXON Missense_P538L exm976863 12 6167182 [G/C] NM_000552 VWF EXON Missense_C521S exm2251115 12 6167196 [A/G] NM_000552 VWF EXON Synonymous_Y516Y exm976865 12 6167196 [A/G] NM_000552 VWF EXON Synonymous_Y516Y exm1781764 12 6172134 [T/C] NM_000552 VWF EXON Missense_R507G exm976867 12 6172139 [T/C] NM_000552 VWF EXON Missense_R505H exm976870 12 6172190 [C/G] NM_000552 VWF EXON Missense_A488G exm976873 12 6172202 [T/C] NM_000552 VWF EXON Missense_H484R exm976878 12 6173433 [T/C] NM_000552 VWF EXON Missense_V471I exm976884 12 6173519 [T/C] NM_000552 VWF EXON Missense_R442H exm976889 12 6173538 [A/G] NM_000552 VWF EXON Missense_R436C exm2251116 12 6181499 [C/G] NM_000552 VWF EXON Synonymous_T369T exm976904 12 6181528 [T/C] NM_000552 VWF EXON Missense_G360S exm976908 12 6181569 [A/G] NM_000552 VWF EXON Missense_T346I exm976912 12 6182808 [A/C] NM_000552 VWF EXON Missense_C325F exm976914 12 6182828 [T/A] NM_000552 VWF EXON Missense_N318K exm976930 12 6184669 [A/G] NM_000552 VWF EXON Missense_R236C exm976943 12 6219663 [A/C] NM_000552 VWF EXON Missense_V137L exm976944 12 6219681 [T/C] NM_000552 VWF EXON Missense_G131S exm976946 12 6219687 [T/G] NM_000552 VWF EXON Missense_L129M exm976949 12 6220051 [T/C] NM_000552 VWF EXON Missense_V102M exm976951 12 6220099 [T/C] NM_000552 VWF EXON Missense_V86M exm976979 12 6232341 [T/C] NM_000552 VWF EXON Missense_G8R exm2251120 12 6341823 [T/C] NM_001769 CD9 EXON Synonymous_G67G exm976995 12 6341823 [T/C] NM_001769 CD9 EXON Synonymous_G67G exm977004 12 6344465 [A/G] NM_001769 CD9 EXON Missense_R140Q exm977011 12 6344726 [A/G] NM_001769 CD9 EXON Missense_V178M exm977013 12 6345391 [A/G] NM_001769 CD9 EXON Missense_N191D exm977015 12 6345421 [A/G] NM_001769 CD9 EXON Missense_I201V exm2267316 12 6349328 [A/G] exm2264486 12 6359894 [A/C] exm977022 12 6421395 [A/G] NM_018173,NM_001144856 PLEKHG6,PLEKHG6 EXON Missense_M1I,Missense_M1I exm977025 12 6421414 [T/C] NM_018173,NM_001144856 PLEKHG6,PLEKHG6 EXON Missense_H8Y,Missense_H8Y exm977032 12 6421495 [A/G] NM_018173,NM_001144856 PLEKHG6,PLEKHG6 EXON Missense_A35T,Missense_A35T exm977033 12 6421514 [A/G] NM_018173,NM_001144856 PLEKHG6,PLEKHG6 EXON Missense_R41Q,Missense_R41Q exm977034 12 6421519 [A/T] NM_018173,NM_001144856 PLEKHG6,PLEKHG6 EXON Missense_Y43N,Missense_Y43N exm977036 12 6422329 [A/G] NM_018173,NM_001144856,NM_001144857 PLEKHG6,PLEKHG6,PLEKHG6 EXON Silent,Silent,Missense_A7T exm977053 12 6422901 [A/G] NM_018173,NM_001144856,NM_001144857 PLEKHG6,PLEKHG6,PLEKHG6 EXON Missense_R82K,Missense_R82K,Missense_R50K exm977062 12 6424235 [A/G] NM_018173,NM_001144856,NM_001144857 PLEKHG6,PLEKHG6,PLEKHG6 EXON Missense_R120Q,Missense_R120Q,Missense_R88Q exm1782213 12 6424282 [A/G] NM_018173,NM_001144856,NM_001144857 PLEKHG6,PLEKHG6,PLEKHG6 EXON Missense_D136N,Missense_D136N,Missense_D104N exm977079 12 6425472 [T/C] NM_018173,NM_001144856,NM_001144857 PLEKHG6,PLEKHG6,PLEKHG6 EXON Missense_R220W,Missense_R220W,Missense_R188W exm977080 12 6425473 [A/G] NM_018173,NM_001144856,NM_001144857 PLEKHG6,PLEKHG6,PLEKHG6 EXON Missense_R220Q,Missense_R220Q,Missense_R188Q exm2251123 12 6425525 [A/G] NM_018173,NM_001144856,NM_001144857 PLEKHG6,PLEKHG6,PLEKHG6 EXON Synonymous_S237S,Synonymous_S237S,Synonymous_S205S exm977086 12 6425545 [T/C] NM_018173,NM_001144856,NM_001144857 PLEKHG6,PLEKHG6,PLEKHG6 EXON Missense_I244T,Missense_I244T,Missense_I212T exm977091 12 6426473 [C/G] NM_018173,NM_001144856,NM_001144857 PLEKHG6,PLEKHG6,PLEKHG6 EXON Missense_G254A,Missense_G254A,Missense_G222A exm977092 12 6426478 [T/C] NM_018173,NM_001144856,NM_001144857 PLEKHG6,PLEKHG6,PLEKHG6 EXON Missense_R256W,Missense_R256W,Missense_R224W exm977097 12 6426536 [A/G] NM_018173,NM_001144856,NM_001144857 PLEKHG6,PLEKHG6,PLEKHG6 EXON Missense_R275Q,Missense_R275Q,Missense_R243Q exm977098 12 6426551 [C/G] NM_018173,NM_001144856,NM_001144857 PLEKHG6,PLEKHG6,PLEKHG6 EXON Missense_T280S,Missense_T280S,Missense_T248S exm977100 12 6426568 [A/G] NM_018173,NM_001144856,NM_001144857 PLEKHG6,PLEKHG6,PLEKHG6 EXON Missense_A286T,Missense_A286T,Missense_A254T exm977103 12 6426738 [T/G] NM_018173,NM_001144856,NM_001144857 PLEKHG6,PLEKHG6,PLEKHG6 EXON Missense_G298V,Missense_G298V,Missense_G266V exm977104 12 6426747 [T/G] NM_018173,NM_001144856,NM_001144857 PLEKHG6,PLEKHG6,PLEKHG6 EXON Missense_M301R,Missense_M301R,Missense_M269R exm977124 12 6427576 [A/G] NM_018173,NM_001144856,NM_001144857 PLEKHG6,PLEKHG6,PLEKHG6 EXON Missense_R422Q,Missense_R422Q,Missense_R390Q exm977129 12 6428039 [A/C] NM_018173,NM_001144856,NM_001144857 PLEKHG6,PLEKHG6,PLEKHG6 EXON Missense_D468E,Missense_D468E,Missense_D436E exm977133 12 6428206 [A/G] NM_018173,NM_001144856,NM_001144857 PLEKHG6,PLEKHG6,PLEKHG6 EXON Missense_A486T,Missense_A486T,Missense_A454T exm977137 12 6428240 [A/G] NM_018173,NM_001144856,NM_001144857 PLEKHG6,PLEKHG6,PLEKHG6 EXON Missense_R497H,Missense_R497H,Missense_R465H exm977148 12 6435693 [T/C] NM_018173,NM_001144856,NM_001144857 PLEKHG6,PLEKHG6,PLEKHG6 EXON Missense_P542S,Missense_P542S,Missense_P510S exm977150 12 6435715 [A/G] NM_018173,NM_001144856,NM_001144857 PLEKHG6,PLEKHG6,PLEKHG6 EXON Missense_G549D,Missense_G549D,Missense_G517D exm977159 12 6436568 [T/C] NM_018173,NM_001144856,NM_001144857 PLEKHG6,PLEKHG6,PLEKHG6 EXON Missense_R607C,Missense_R607C,Missense_R575C exm977160 12 6436569 [A/G] NM_018173,NM_001144856,NM_001144857 PLEKHG6,PLEKHG6,PLEKHG6 EXON Missense_R607H,Missense_R607H,Missense_R575H exm977161 12 6436574 [T/C] NM_018173,NM_001144856,NM_001144857 PLEKHG6,PLEKHG6,PLEKHG6 EXON Missense_R609C,Missense_R609C,Missense_R577C exm977166 12 6436653 [A/C] NM_018173,NM_001144856,NM_001144857 PLEKHG6,PLEKHG6,PLEKHG6 EXON Missense_P635H,Missense_P635H,Missense_P603H exm977174 12 6436736 [A/G] NM_018173,NM_001144856,NM_001144857 PLEKHG6,PLEKHG6,PLEKHG6 EXON Missense_D663N,Missense_D663N,Missense_D631N exm977178 12 6436832 [T/C] NM_018173,NM_001144856,NM_001144857 PLEKHG6,PLEKHG6,PLEKHG6 EXON Missense_P695S,Missense_P695S,Missense_P663S exm977184 12 6436940 [T/C] NM_018173,NM_001144856,NM_001144857 PLEKHG6,PLEKHG6,PLEKHG6 EXON Missense_R731C,Missense_R731C,Missense_R699C exm977193 12 6437108 [A/G] NM_018173,NM_001144856,NM_001144857 PLEKHG6,PLEKHG6,PLEKHG6 EXON Missense_A787T,Missense_A787T,Missense_A755T exm977213 12 6438963 [T/G] NM_001065 TNFRSF1A EXON Missense_H346Q exm1782276 12 6439013 [T/C] NM_001065 TNFRSF1A EXON Missense_A330T exm977218 12 6439066 [T/C] NM_001065 TNFRSF1A EXON Missense_R312K exm-rs1800693 12 6440009 [T/C] NM_001065 TNFRSF1A Silent exm977245 12 6442571 [T/C] NM_001065 TNFRSF1A EXON Missense_N145S exm977247 12 6442643 [T/C] NM_001065 TNFRSF1A EXON Missense_R121Q exm977252 12 6443001 [A/G] NM_001065 TNFRSF1A EXON Missense_P75L exm1782293 12 6443327 [A/C] NM_001065 TNFRSF1A EXON Missense_D41E exm977262 12 6457062 [T/C] NM_001159576,NM_001038,NM_001159575 SCNN1A,SCNN1A,SCNN1A EXON Missense_T722A,Missense_T663A,Missense_T686A exm977267 12 6457196 [A/C] NM_001159576,NM_001038,NM_001159575 SCNN1A,SCNN1A,SCNN1A EXON Missense_C677F,Missense_C618F,Missense_C641F exm977270 12 6457277 [T/C] NM_001159576,NM_001038,NM_001159575 SCNN1A,SCNN1A,SCNN1A EXON Missense_R650Q,Missense_R591Q,Missense_R614Q exm977273 12 6457332 [T/C] NM_001159576,NM_001038,NM_001159575 SCNN1A,SCNN1A,SCNN1A EXON Missense_V632I,Missense_V573I,Missense_V596I exm977277 12 6457963 [C/G] NM_001159576,NM_001038,NM_001159575 SCNN1A,SCNN1A,SCNN1A EXON Missense_G579A,Missense_G520A,Missense_G543A exm977282 12 6458149 [A/G] NM_001159576,NM_001038,NM_001159575 SCNN1A,SCNN1A,SCNN1A EXON Missense_S566L,Missense_S507L,Missense_S530L exm977287 12 6458343 [A/G] NM_001159576,NM_001038,NM_001159575 SCNN1A,SCNN1A,SCNN1A EXON Missense_S554L,Missense_S495L,Missense_S518L exm977288 12 6458350 [A/G] NM_001159576,NM_001038,NM_001159575 SCNN1A,SCNN1A,SCNN1A EXON Missense_W552R,Missense_W493R,Missense_W516R exm2275299 12 6458386 [T/C] NM_001159576,NM_001038,NM_001159575 SCNN1A,SCNN1A,SCNN1A EXON Missense_V540M,Missense_V481M,Missense_V504M exm977292 12 6458505 [T/C] NM_001159576,NM_001038,NM_001159575 SCNN1A,SCNN1A,SCNN1A EXON Missense_R535Q,Missense_R476Q,Missense_R499Q exm977294 12 6458571 [A/C] NM_001159576,NM_001038,NM_001159575 SCNN1A,SCNN1A,SCNN1A EXON Missense_G513V,Missense_G454V,Missense_G477V exm977300 12 6463942 [T/G] NM_001159576,NM_001038,NM_001159575 SCNN1A,SCNN1A,SCNN1A EXON Missense_L465I,Missense_L406I,Missense_L429I exm977303 12 6464004 [T/C] NM_001159576,NM_001038,NM_001159575 SCNN1A,SCNN1A,SCNN1A EXON Missense_D444G,Missense_D385G,Missense_D408G exm977314 12 6464581 [T/C] NM_001159576,NM_001038,NM_001159575 SCNN1A,SCNN1A,SCNN1A EXON Missense_A393T,Missense_A334T,Missense_A357T exm977316 12 6464944 [A/G] NM_001159576,NM_001038,NM_001159575 SCNN1A,SCNN1A,SCNN1A EXON Synonymous_N385N,Synonymous_N326N,Synonymous_N349N exm977328 12 6471287 [A/G] NM_001159576,NM_001038,NM_001159575 SCNN1A,SCNN1A,SCNN1A EXON Missense_S328P,Missense_S269P,Missense_S292P exm977334 12 6472679 [T/C] NM_001159576,NM_001038,NM_001159575 SCNN1A,SCNN1A,SCNN1A EXON Missense_S264N,Missense_S205N,Missense_S228N exm977358 12 6483792 [T/C] NM_001159576,NM_001038,NM_001159575 SCNN1A,SCNN1A,SCNN1A EXON Missense_R112H,Missense_R53H,Missense_R76H exm977370 12 6483924 [T/C] NM_001159576,NM_001038,NM_001159575 SCNN1A,SCNN1A,SCNN1A EXON Missense_Q68R,Missense_Q9R,Missense_Q32R exm977374 12 6483997 [T/C] NM_001159576,NM_001038,NM_001159575 SCNN1A,SCNN1A,SCNN1A EXON Missense_K44E,Silent,Missense_K8E exm977376 12 6484017 [A/G] NM_001159576,NM_001038,NM_001159575 SCNN1A,SCNN1A,SCNN1A EXON Missense_P37L,Silent,Silent exm977398 12 6494510 [T/C] NM_001270987,NM_002342 LTBR,LTBR EXON Missense_S127F,Missense_S146F exm977401 12 6495247 [A/G] NM_001270987,NM_002342 LTBR,LTBR EXON Missense_G144D,Missense_G163D exm977406 12 6495310 [A/G] NM_001270987,NM_002342 LTBR,LTBR EXON Missense_R165H,Missense_R184H exm977415 12 6497581 [T/G] NM_001270987,NM_002342 LTBR,LTBR EXON Missense_A210S,Missense_A229S exm977416 12 6497584 [A/G] NM_001270987,NM_002342 LTBR,LTBR EXON Missense_V211I,Missense_V230I exm977429 12 6499389 [T/C] NM_001270987,NM_002342 LTBR,LTBR EXON Missense_S286P,Missense_S305P exm977431 12 6499408 [T/C] NM_001270987,NM_002342 LTBR,LTBR EXON Missense_A292V,Missense_A311V exm-rs11616188 12 6502742 [A/G] exm977456 12 6554628 [A/G] NR_015382,NM_001242 CD27-AS1,CD27 EXON Silent,Missense_A59T exm977474 12 6559461 [T/C] NR_015382,NM_001242 CD27-AS1,CD27 EXON Silent,Missense_R131W exm2221004 12 6559796 [T/C] NR_015382,NM_001242 CD27-AS1,CD27 EXON Silent,Missense_P180S exm977490 12 6560460 [A/G] NR_015382,NM_001242 CD27-AS1,CD27 EXON Silent,Missense_A229T exm977491 12 6560473 [A/G] NR_015382,NM_001242 CD27-AS1,CD27 EXON Silent,Missense_H233R exm1782745 12 6560488 [A/G] NR_015382,NM_001242 CD27-AS1,CD27 EXON Silent,Missense_R238K exm977499 12 6562260 [A/G] NM_018009 TAPBPL EXON Missense_R31Q exm977500 12 6562262 [A/G] NM_018009 TAPBPL EXON Missense_A32T exm977504 12 6562293 [T/C] NM_018009 TAPBPL EXON Missense_A42V exm977516 12 6562382 [A/G] NM_018009 TAPBPL EXON Missense_D72N exm977517 12 6562406 [A/G] NM_018009 TAPBPL EXON Missense_D80N exm977518 12 6562652 [T/A] NM_018009 TAPBPL EXON Missense_H112L exm977523 12 6562753 [A/G] NM_018009 TAPBPL EXON Missense_M146V exm977524 12 6562768 [C/G] NM_018009 TAPBPL EXON Missense_G151R exm977527 12 6562810 [A/G] NM_018009 TAPBPL EXON Missense_T165A exm977528 12 6562823 [T/C] NM_018009 TAPBPL EXON Missense_A169V exm977532 12 6566573 [A/G] NM_018009 TAPBPL EXON Synonymous_V189V exm977536 12 6566659 [T/C] NM_018009 TAPBPL EXON Missense_P218L exm977539 12 6566743 [A/G] NM_018009 TAPBPL EXON Missense_G246E exm977540 12 6566782 [A/G] NM_018009 TAPBPL EXON Missense_Q259R exm977546 12 6566909 [A/G] NM_018009 TAPBPL EXON Synonymous_Q301Q exm2274554 12 6567847 [T/C] NM_018009 TAPBPL EXON Missense_A314V exm977550 12 6567907 [T/C] NM_018009 TAPBPL EXON Missense_T334M exm977551 12 6567915 [T/C] NM_018009 TAPBPL EXON Nonsense_R337X exm977553 12 6567981 [A/G] NM_018009 TAPBPL EXON Missense_V359M exm977556 12 6568021 [A/G] NM_018009 TAPBPL EXON Missense_E372G exm977558 12 6568066 [T/C] NM_018009 TAPBPL EXON Missense_I387T exm977561 12 6570024 [A/G] NM_018009 TAPBPL EXON Missense_R404Q exm977563 12 6570093 [A/T] NM_018009 TAPBPL EXON Missense_Q427L exm1782796 12 6571250 [T/C] NM_018009 TAPBPL EXON Missense_C448R exm977566 12 6571287 [A/G] NM_018009 TAPBPL EXON Missense_R460H exm-rs10492096 12 6580582 [A/G] exm977599 12 6601475 [A/G] NM_016497 MRPL51 EXON Missense_L117F exm977607 12 6601619 [A/G] NM_016497 MRPL51 EXON Missense_H69Y exm977622 12 6604269 [G/C] NM_014865 NCAPD2 EXON Missense_A2G exm977623 12 6604272 [A/C] NM_014865 NCAPD2 EXON Missense_P3H exm977626 12 6604331 [T/G] NM_014865 NCAPD2 EXON Missense_V23L exm977637 12 6618944 [C/G] NM_014865 NCAPD2 EXON Missense_I63M exm977639 12 6619284 [G/C] NM_014865 NCAPD2 EXON Missense_Q83E exm977675 12 6623446 [T/G] NM_014865 NCAPD2 EXON Missense_C201W exm977676 12 6623453 [T/C] NM_014865 NCAPD2 EXON Missense_R204C exm977677 12 6623492 [T/C] NM_014865 NCAPD2 EXON Missense_R217C exm977692 12 6626015 [A/G] NM_014865 NCAPD2 EXON Missense_V337M exm977705 12 6626648 [A/G] NM_014865 NCAPD2 EXON Missense_N435D exm977710 12 6627008 [A/G] NM_014865 NCAPD2 EXON Missense_Q491R exm977711 12 6627026 [C/G] NM_014865 NCAPD2 EXON Missense_P497R exm977714 12 6630174 [G/C] NM_014865 NCAPD2 EXON Missense_E538Q exm977715 12 6630189 [T/G] NM_014865 NCAPD2 EXON Missense_F543V exm977722 12 6630969 [A/G] NM_014865 NCAPD2 EXON Missense_A574T exm977723 12 6630988 [A/G] NM_014865 NCAPD2 EXON Missense_K580R exm977724 12 6630997 [A/G] NM_014865 NCAPD2 EXON Missense_R583Q exm977730 12 6631042 [A/T] NM_014865 NCAPD2 EXON Missense_N598I exm977733 12 6631150 [T/C] NM_014865 NCAPD2 EXON Missense_I634T exm977734 12 6631152 [A/C] NM_014865 NCAPD2 EXON Missense_T635P exm977736 12 6631204 [A/G] NM_014865 NCAPD2 Silent exm977745 12 6632471 [C/G] NM_014865 NCAPD2 EXON Missense_V725L exm977752 12 6635274 [A/G] NM_014865 NCAPD2 EXON Missense_V797M exm977758 12 6635478 [T/C] NM_014865 NCAPD2 EXON Missense_P836L exm2221012 12 6635519 [T/C] NM_014865 NCAPD2 EXON Missense_R850W exm977799 12 6637494 [A/G] NM_014865 NCAPD2 EXON Missense_R1100H exm977800 12 6637845 [T/C] NM_014865 NCAPD2 EXON Synonymous_R1100R exm977808 12 6638006 [A/G] NM_014865 NCAPD2 EXON Missense_N1154S exm977813 12 6638142 [T/C] NM_014865 NCAPD2 EXON Missense_I1170T exm977819 12 6638759 [T/G] NM_014865 NCAPD2 EXON Missense_R1218L exm977822 12 6638949 [A/G] NM_014865 NCAPD2 EXON Missense_R1221Q exm977825 12 6639060 [A/C] NM_014865 NCAPD2 EXON Missense_S1258Y exm977834 12 6639936 [C/G] NM_014865 NCAPD2 EXON Missense_G1306A exm977837 12 6639981 [C/G] NM_014865 NCAPD2 EXON Missense_T1321S exm977838 12 6639983 [A/G] NM_014865 NCAPD2 EXON Missense_G1322S exm1783017 12 6640085 [A/G] NM_014865 NCAPD2 Silent exm977840 12 6640126 [A/G] NM_014865 NCAPD2 EXON Missense_N1335S exm977846 12 6640519 [A/G] NM_014865 NCAPD2 EXON Missense_E1383K exm977878 12 6646375 [A/G] NM_002046,NM_001256799 GAPDH,GAPDH EXON Missense_I146V,Missense_I104V exm977906 12 6649710 [A/G] NR_036467,NM_080730,NM_001193457,NM_001039670 IFFO1,IFFO1,IFFO1,IFFO1 EXON Silent,Missense_P543L,Missense_P552L,Missense_P544L exm977907 12 6649716 [A/G] NR_036467,NM_080730,NM_001193457,NM_001039670 IFFO1,IFFO1,IFFO1,IFFO1 EXON Silent,Missense_P541L,Missense_P550L,Missense_P542L exm977911 12 6650702 [T/C] NR_036467,NM_080730,NM_001193457,NM_001039670 IFFO1,IFFO1,IFFO1,IFFO1 EXON Silent,Missense_R520Q,Missense_R529Q,Missense_R521Q exm977925 12 6657833 [T/C] NR_036467,NM_080730,NM_001193457,NM_001039670 IFFO1,IFFO1,IFFO1,IFFO1 Silent,Silent,Silent,Silent exm977927 12 6657909 [T/C] NR_036467,NM_080730,NM_001193457,NM_001039670 IFFO1,IFFO1,IFFO1,IFFO1 EXON Silent,Missense_R388H,Missense_R396H,Missense_R388H exm977929 12 6657960 [T/C] NR_036467,NM_080730,NM_001193457,NM_001039670 IFFO1,IFFO1,IFFO1,IFFO1 EXON Silent,Missense_R371H,Missense_R379H,Missense_R371H exm977930 12 6657967 [A/G] NR_036467,NM_080730,NM_001193457,NM_001039670 IFFO1,IFFO1,IFFO1,IFFO1 EXON Silent,Missense_R369W,Missense_R377W,Missense_R369W exm2251141 12 6658991 [A/G] NR_036467,NM_080730,NM_001193457,NM_001039670 IFFO1,IFFO1,IFFO1,IFFO1 EXON Silent,Synonymous_I334I,Synonymous_I334I,Synonymous_I334I exm977942 12 6658991 [A/G] NR_036467,NM_080730,NM_001193457,NM_001039670 IFFO1,IFFO1,IFFO1,IFFO1 EXON Silent,Synonymous_I334I,Synonymous_I334I,Synonymous_I334I exm977951 12 6660127 [A/G] NR_036467,NM_080730,NM_001193457,NM_001039670 IFFO1,IFFO1,IFFO1,IFFO1 EXON Silent,Missense_R272C,Missense_R272C,Missense_R272C exm977953 12 6660150 [A/G] NR_036467,NM_080730,NM_001193457,NM_001039670 IFFO1,IFFO1,IFFO1,IFFO1 EXON Silent,Missense_T264M,Missense_T264M,Missense_T264M exm977970 12 6664850 [A/G] NR_036467,NM_080730,NM_001193457,NM_001039670 IFFO1,IFFO1,IFFO1,IFFO1 EXON Silent,Missense_R116W,Missense_R116W,Missense_R116W exm977982 12 6666194 [A/G] NM_001258309,NM_001033714,NM_001258308,NM_001258310,NM_006170 NOP2,NOP2,NOP2,NOP2,NOP2 EXON Nonsense_Q835X,Nonsense_Q798X,Nonsense_Q802X,Silent,Nonsense_Q798X exm977992 12 6666415 [A/G] NM_001258309,NM_001033714,NM_001258308,NM_001258310,NM_006170 NOP2,NOP2,NOP2,NOP2,NOP2 EXON Missense_P761L,Missense_P724L,Missense_P728L,Silent,Missense_P724L exm978000 12 6666496 [T/C] NM_001258309,NM_001033714,NM_001258308,NM_001258310,NM_006170 NOP2,NOP2,NOP2,NOP2,NOP2 EXON Missense_R734Q,Missense_R697Q,Missense_R701Q,Silent,Missense_R697Q exm978001 12 6666584 [G/C] NM_001258309,NM_001033714,NM_001258308,NM_001258310,NM_006170 NOP2,NOP2,NOP2,NOP2,NOP2 EXON Missense_A705P,Missense_A668P,Missense_A672P,Silent,Missense_A668P exm978003 12 6666649 [A/G] NM_001258309,NM_001033714,NM_001258308,NM_001258310,NM_006170 NOP2,NOP2,NOP2,NOP2,NOP2 EXON Missense_L683P,Missense_L646P,Missense_L650P,Silent,Missense_L646P exm978006 12 6666712 [A/G] NM_001258309,NM_001033714,NM_001258308,NM_001258310,NM_006170 NOP2,NOP2,NOP2,NOP2,NOP2 EXON Missense_A662V,Missense_A625V,Missense_A629V,Silent,Missense_A625V exm978007 12 6666718 [T/C] NM_001258309,NM_001033714,NM_001258308,NM_001258310,NM_006170 NOP2,NOP2,NOP2,NOP2,NOP2 EXON Missense_K660R,Missense_K623R,Missense_K627R,Silent,Missense_K623R exm1783180 12 6669359 [G/C] NM_001258309,NM_001033714,NM_001258308,NM_001258310,NM_006170 NOP2,NOP2,NOP2,NOP2,NOP2 EXON Missense_S598C,Missense_S561C,Missense_S565C,Missense_S561C,Missense_S561C exm978014 12 6669395 [T/C] NM_001258309,NM_001033714,NM_001258308,NM_001258310,NM_006170 NOP2,NOP2,NOP2,NOP2,NOP2 EXON Missense_R586H,Missense_R549H,Missense_R553H,Missense_R549H,Missense_R549H exm978028 12 6670191 [T/C] NM_001258309,NM_001033714,NM_001258308,NM_001258310,NM_006170 NOP2,NOP2,NOP2,NOP2,NOP2 EXON Missense_N451S,Missense_N414S,Missense_N418S,Missense_N414S,Missense_N414S exm978032 12 6670962 [G/C] NM_001258309,NM_001033714,NM_001258308,NM_001258310,NM_006170 NOP2,NOP2,NOP2,NOP2,NOP2 EXON Missense_P392A,Missense_P355A,Missense_P359A,Missense_P355A,Missense_P355A exm978052 12 6672587 [T/C] NM_001258309,NM_001033714,NM_001258308,NM_001258310,NM_006170 NOP2,NOP2,NOP2,NOP2,NOP2 EXON Missense_R294Q,Missense_R257Q,Missense_R261Q,Missense_R257Q,Missense_R257Q exm978054 12 6672599 [T/C] NM_001258309,NM_001033714,NM_001258308,NM_001258310,NM_006170 NOP2,NOP2,NOP2,NOP2,NOP2 EXON Missense_R290Q,Missense_R253Q,Missense_R257Q,Missense_R253Q,Missense_R253Q exm978055 12 6672617 [C/G] NM_001258309,NM_001033714,NM_001258308,NM_001258310,NM_006170 NOP2,NOP2,NOP2,NOP2,NOP2 EXON Missense_R284P,Missense_R247P,Missense_R251P,Missense_R247P,Missense_R247P exm978063 12 6672928 [C/G] NM_001258309,NM_001033714,NM_001258308,NM_001258310,NM_006170 NOP2,NOP2,NOP2,NOP2,NOP2 EXON Missense_W213C,Missense_W176C,Missense_W180C,Missense_W176C,Missense_W176C exm978066 12 6673080 [A/C] NM_001258309,NM_001033714,NM_001258308,NM_001258310,NM_006170 NOP2,NOP2,NOP2,NOP2,NOP2 EXON Missense_Q202H,Missense_Q165H,Missense_Q169H,Missense_Q165H,Missense_Q165H exm978069 12 6675269 [T/C] NM_001258309,NM_001033714,NM_001258308,NM_001258310,NM_006170 NOP2,NOP2,NOP2,NOP2,NOP2 EXON Missense_A158T,Missense_A154T,Missense_A158T,Missense_A154T,Missense_A154T exm978072 12 6675322 [A/G] NM_001258309,NM_001033714,NM_001258308,NM_001258310,NM_006170 NOP2,NOP2,NOP2,NOP2,NOP2 EXON Missense_T140M,Missense_T136M,Missense_T140M,Missense_T136M,Missense_T136M exm1783258 12 6675332 [T/C] NM_001258309,NM_001033714,NM_001258308,NM_001258310,NM_006170 NOP2,NOP2,NOP2,NOP2,NOP2 EXON Missense_D137N,Missense_D133N,Missense_D137N,Missense_D133N,Missense_D133N exm978074 12 6675366 [G/C] NM_001258309,NM_001033714,NM_001258308,NM_001258310,NM_006170 NOP2,NOP2,NOP2,NOP2,NOP2 EXON Missense_M125I,Missense_M121I,Missense_M125I,Missense_M121I,Missense_M121I exm978080 12 6675739 [T/C] NM_001258309,NM_001033714,NM_001258308,NM_001258310,NM_006170 NOP2,NOP2,NOP2,NOP2,NOP2 EXON Missense_N65S,Missense_N65S,Missense_N65S,Missense_N65S,Missense_N65S exm978081 12 6675758 [C/G] NM_001258309,NM_001033714,NM_001258308,NM_001258310,NM_006170 NOP2,NOP2,NOP2,NOP2,NOP2 EXON Missense_V59L,Missense_V59L,Missense_V59L,Missense_V59L,Missense_V59L exm978083 12 6675779 [T/C] NM_001258309,NM_001033714,NM_001258308,NM_001258310,NM_006170 NOP2,NOP2,NOP2,NOP2,NOP2 EXON Missense_A52T,Missense_A52T,Missense_A52T,Missense_A52T,Missense_A52T exm978111 12 6688050 [A/G] NM_001273 CHD4 EXON Missense_S1648L exm978118 12 6690297 [T/C] NM_001273 CHD4 EXON Missense_V1608I exm978209 12 6709138 [G/C] NM_001273 CHD4 EXON Missense_S428W exm978214 12 6709561 [T/C] NM_001273 CHD4 EXON Missense_G355D exm978221 12 6710193 [A/C] NM_001273 CHD4 EXON Missense_G276C exm978234 12 6711144 [A/C] NM_001273 CHD4 EXON Missense_D140E exm978235 12 6711147 [A/C] NM_001273 CHD4 EXON Missense_E139D exm978239 12 6711259 [T/C] NM_001273 CHD4 EXON Missense_R102H exm978260 12 6729304 [T/C] NM_001142961,NM_020400 LPAR5,LPAR5 EXON Missense_A371T,Missense_A371T exm978294 12 6730404 [T/C] NM_001142961,NM_020400 LPAR5,LPAR5 EXON Missense_N4S,Missense_N4S exm978297 12 6747454 [T/G] NM_032489 ACRBP EXON Missense_F542L exm978299 12 6747495 [A/G] NM_032489 ACRBP EXON Nonsense_R529X exm978306 12 6749288 [G/C] NM_032489 ACRBP EXON Missense_R455G exm978309 12 6749363 [T/C] NM_032489 ACRBP EXON Missense_G430R exm978311 12 6749371 [T/C] NM_032489 ACRBP EXON Missense_R427H exm2251146 12 6752738 [A/G] NM_032489 ACRBP EXON Synonymous_Y348Y exm978324 12 6752776 [T/C] NM_032489 ACRBP EXON Missense_T336A exm978336 12 6753430 [A/G] NM_032489 ACRBP EXON Nonsense_R273X exm978341 12 6753523 [A/G] NM_032489 ACRBP EXON Missense_R242W exm1783506 12 6753525 [T/C] NM_032489 ACRBP EXON Missense_G241E exm978343 12 6753612 [T/C] NM_032489 ACRBP EXON Missense_K212R exm978348 12 6753721 [T/C] NM_032489 ACRBP EXON Missense_V176M exm978353 12 6754479 [A/T] NM_032489 ACRBP EXON Missense_S128T exm978360 12 6755731 [G/C] NM_032489 ACRBP EXON Missense_S92C exm978364 12 6756035 [A/G] NM_032489 ACRBP EXON Missense_R63C exm978365 12 6756065 [T/C] NM_032489 ACRBP EXON Missense_T53A exm978367 12 6756143 [A/C] NM_032489 ACRBP EXON Missense_D27Y exm978386 12 6761437 [A/G] NM_001127583,NM_001127582,NM_001127584,NM_001127585,NM_001127586,NM_016162 ING4,ING4,ING4,ING4,ING4,ING4 EXON Synonymous_D213D,Synonymous_D216D,Synonymous_D212D,Synonymous_D192D,Silent,Synonymous_D215D exm978400 12 6761897 [T/C] NM_001127583,NM_001127582,NM_001127584,NM_001127585,NM_001127586,NM_016162 ING4,ING4,ING4,ING4,ING4,ING4 EXON Missense_R141H,Missense_R144H,Missense_R140H,Missense_R120H,Missense_R144H,Missense_R143H exm1783531 12 6762500 [A/G] NM_001127583,NM_001127582,NM_001127584,NM_001127585,NM_001127586,NM_016162 ING4,ING4,ING4,ING4,ING4,ING4 EXON Missense_S58P,Missense_S58P,Missense_S58P,Missense_S34P,Missense_S58P,Missense_S58P exm978410 12 6762514 [A/G] NM_001127583,NM_001127582,NM_001127584,NM_001127585,NM_001127586,NM_016162 ING4,ING4,ING4,ING4,ING4,ING4 EXON Missense_A53V,Missense_A53V,Missense_A53V,Missense_A29V,Missense_A53V,Missense_A53V exm978427 12 6777019 [T/C] NM_001039920,NM_133476,NM_001135734 ZNF384,ZNF384,ZNF384 EXON Missense_G416D,Missense_G471D,Missense_G532D exm978449 12 6777269 [T/C] NM_001039920,NM_133476,NM_001135734 ZNF384,ZNF384,ZNF384 EXON Missense_M333V,Missense_M388V,Missense_M449V exm978483 12 6787612 [T/G] NM_001039920,NM_133476,NM_001135734 ZNF384,ZNF384,ZNF384 EXON Silent,Missense_I123L,Missense_I123L exm978485 12 6787623 [A/G] NM_001039920,NM_133476,NM_001135734 ZNF384,ZNF384,ZNF384 EXON Silent,Missense_P119L,Missense_P119L exm978507 12 6804702 [T/C] NM_001244015,NM_153685,NM_001244014 PIANP,PIANP,PIANP EXON Missense_A241T,Missense_A241T,Missense_A241T exm978519 12 6806530 [T/C] NM_001244015,NM_153685,NM_001244014 PIANP,PIANP,PIANP EXON Missense_R149Q,Missense_R149Q,Missense_R149Q exm978524 12 6806743 [T/C] NM_001244015,NM_153685,NM_001244014 PIANP,PIANP,PIANP EXON Missense_R78Q,Missense_R78Q,Missense_R78Q exm978533 12 6833967 [T/A] NM_001164094,NM_016319,NM_001164095,NM_001164093 COPS7A,COPS7A,COPS7A,COPS7A EXON Missense_M49L,Missense_M49L,Missense_M49L,Missense_M49L exm978555 12 6838591 [A/C] NM_001164094,NM_016319,NM_001164095,NM_001164093 COPS7A,COPS7A,COPS7A,COPS7A EXON Missense_A169D,Missense_A169D,Missense_A169D,Missense_A169D exm978608 12 6859407 [T/C] NR_026581,NM_005439 MLF2,MLF2 EXON Silent,Missense_N112S exm978613 12 6859920 [T/C] NR_026581,NM_005439 MLF2,MLF2 EXON Silent,Missense_M77V exm978627 12 6861185 [T/C] NR_026581,NM_005439 MLF2,MLF2 EXON Silent,Missense_R29H exm2251153 12 6879605 [A/G] NM_002824 PTMS EXON Synonymous_A102A exm978652 12 6882372 [T/C] NM_002286 LAG3 EXON Missense_P25S exm978656 12 6882498 [A/C] NM_002286 LAG3 EXON Missense_P67T exm978680 12 6883899 [T/C] NM_002286 LAG3 EXON Missense_P217L exm978685 12 6884000 [A/G] NM_002286 LAG3 EXON Missense_V251I exm978693 12 6884529 [A/G] NM_002286 LAG3 EXON Missense_R291Q exm978696 12 6884585 [T/A] NM_002286 LAG3 EXON Missense_T310S exm1783811 12 6884589 [G/C] NM_002286 LAG3 EXON Missense_G311A exm978698 12 6884613 [A/G] NM_002286 LAG3 EXON Missense_R319Q exm978704 12 6884697 [T/C] NM_002286 LAG3 EXON Missense_T347I exm978708 12 6886484 [T/C] NM_002286 LAG3 EXON Missense_V371A exm978710 12 6886507 [T/C] NM_002286 LAG3 EXON Missense_R379C exm978714 12 6886553 [T/C] NM_002286 LAG3 EXON Missense_S394L exm978719 12 6886977 [A/G] NM_002286 LAG3 EXON Missense_A441T exm978722 12 6887020 [T/C] NM_002286 LAG3 EXON Missense_I455T exm978727 12 6887446 [T/A] NM_002286 LAG3 EXON Missense_I490F exm2271680 12 6905181 [T/C] NM_001195015,NM_001195014,NM_001195016,NM_001195017,NM_000616 CD4,CD4,CD4,CD4,CD4 Silent,Silent,Silent,Silent,Silent exm978738 12 6909315 [A/G] NM_001195015,NM_001195014,NM_001195016,NM_001195017,NM_000616 CD4,CD4,CD4,CD4,CD4 EXON Silent,Silent,Silent,Silent,Missense_G4E exm978740 12 6909342 [T/C] NM_001195015,NM_001195014,NM_001195016,NM_001195017,NM_000616 CD4,CD4,CD4,CD4,CD4 EXON Silent,Silent,Silent,Silent,Missense_V13A exm978743 12 6909474 [A/G] NM_001195015,NM_001195014,NM_001195016,NM_001195017,NM_000616 CD4,CD4,CD4,CD4,CD4 EXON Silent,Silent,Silent,Silent,Synonymous_A17A exm978746 12 6909528 [T/A] NM_001195015,NM_001195014,NM_001195016,NM_001195017,NM_000616 CD4,CD4,CD4,CD4,CD4 EXON Silent,Silent,Silent,Silent,Missense_D35E exm978769 12 6924122 [A/G] NM_001195015,NM_001195014,NM_001195016,NM_001195017,NM_000616 CD4,CD4,CD4,CD4,CD4 EXON Silent,Silent,Silent,Silent,Missense_K191E exm978776 12 6925218 [C/G] NM_001195015,NM_001195014,NM_001195016,NM_001195017,NM_000616 CD4,CD4,CD4,CD4,CD4 EXON Silent,Missense_P23A,Silent,Silent,Silent exm978779 12 6925294 [T/C] NM_001195015,NM_001195014,NM_001195016,NM_001195017,NM_000616 CD4,CD4,CD4,CD4,CD4 EXON Silent,Missense_F48S,Silent,Silent,Missense_F227S exm978787 12 6925407 [T/C] NM_001195015,NM_001195014,NM_001195016,NM_001195017,NM_000616 CD4,CD4,CD4,CD4,CD4 EXON Silent,Missense_R86W,Silent,Silent,Missense_R265W exm978797 12 6926401 [A/G] NM_001195015,NM_001195014,NM_001195016,NM_001195017,NM_000616 CD4,CD4,CD4,CD4,CD4 EXON Missense_R81Q,Missense_R175Q,Missense_R81Q,Missense_R81Q,Missense_R354Q exm978804 12 6927665 [T/C] NM_001195015,NM_001195014,NM_001195016,NM_001195017,NM_000616 CD4,CD4,CD4,CD4,CD4 EXON Missense_I139T,Missense_I233T,Missense_I139T,Missense_I139T,Missense_I412T exm978810 12 6928020 [T/C] NM_001195015,NM_001195014,NM_001195016,NM_001195017,NM_000616 CD4,CD4,CD4,CD4,CD4 EXON Missense_A156V,Missense_A250V,Missense_A156V,Missense_A156V,Missense_A429V exm978811 12 6928056 [A/G] NM_001195015,NM_001195014,NM_001195016,NM_001195017,NM_000616 CD4,CD4,CD4,CD4,CD4 EXON Missense_E168G,Missense_E262G,Missense_E168G,Missense_E168G,Missense_E441G exm2276224 12 6928064 [A/C] NM_001195015,NM_001195014,NM_001195016,NM_001195017,NM_000616 CD4,CD4,CD4,CD4,CD4 EXON Missense_T171P,Missense_T265P,Missense_T171P,Missense_T171P,Missense_T444P exm2273488 12 6928569 [A/T] NM_001195015,NM_001195014,NM_001195016,NM_001195017,NM_000616 CD4,CD4,CD4,CD4,CD4 EXON Silent,Silent,Silent,Silent,Silent exm1783989 12 6933705 [A/G] NM_019858,NM_014449 GPR162,GPR162 EXON Missense_R214Q,Silent exm978882 12 6935391 [A/G] NM_019858,NM_014449 GPR162,GPR162 EXON Missense_R363Q,Missense_R79Q exm978883 12 6935405 [T/C] NM_019858,NM_014449 GPR162,GPR162 EXON Missense_R368C,Missense_R84C exm978886 12 6935441 [T/C] NM_019858,NM_014449 GPR162,GPR162 EXON Missense_R380W,Missense_R96W exm978887 12 6935442 [A/G] NM_019858,NM_014449 GPR162,GPR162 EXON Missense_R380Q,Missense_R96Q exm1783996 12 6935460 [A/T] NM_019858,NM_014449 GPR162,GPR162 EXON Missense_K386M,Missense_K102M exm978894 12 6935831 [A/G] NM_019858,NM_014449 GPR162,GPR162 EXON Missense_R410Q,Missense_R126Q exm978901 12 6935942 [A/G] NM_019858,NM_014449 GPR162,GPR162 EXON Missense_R447Q,Missense_R163Q exm978903 12 6935950 [A/G] NM_019858,NM_014449 GPR162,GPR162 EXON Missense_G450R,Missense_G166R exm978912 12 6935995 [A/G] NM_019858,NM_014449 GPR162,GPR162 EXON Missense_E465K,Missense_E181K exm978925 12 6936152 [T/C] NM_019858,NM_014449 GPR162,GPR162 EXON Missense_P517L,Missense_P233L exm978927 12 6936182 [A/G] NM_019858,NM_014449 GPR162,GPR162 EXON Missense_R527Q,Missense_R243Q exm978928 12 6936187 [T/C] NM_019858,NM_014449 GPR162,GPR162 EXON Missense_R529W,Missense_R245W exm978929 12 6936188 [A/G] NM_019858,NM_014449 GPR162,GPR162 EXON Missense_R529Q,Missense_R245Q exm1784005 12 6936209 [A/G] NM_019858,NM_014449 GPR162,GPR162 EXON Missense_R536H,Missense_R252H exm978931 12 6936211 [T/C] NM_019858,NM_014449 GPR162,GPR162 EXON Nonsense_R537X,Nonsense_R253X exm978936 12 6936268 [A/G] NM_019858,NM_014449 GPR162,GPR162 EXON Missense_A556T,Missense_A272T exm978951 12 6939030 [A/G] NM_014262 LEPREL2 EXON Missense_S169G exm978954 12 6939139 [T/C] NM_014262 LEPREL2 EXON Missense_P205L exm978958 12 6939626 [T/G] NM_014262 LEPREL2 EXON Missense_V254L exm978960 12 6939686 [T/C] NM_014262 LEPREL2 EXON Nonsense_R274X exm2251158 12 6939859 [T/C] NM_014262 LEPREL2 EXON Synonymous_H303H exm978971 12 6940431 [A/G] NM_014262 LEPREL2 EXON Missense_T346A exm978974 12 6940469 [T/G] NM_014262 LEPREL2 EXON Missense_S358R exm978975 12 6940492 [A/G] NM_014262 LEPREL2 EXON Missense_R366Q exm978983 12 6942963 [T/C] NM_014262 LEPREL2 EXON Missense_P441L exm978992 12 6946232 [A/G] NM_014262 LEPREL2 EXON Missense_R514Q exm978993 12 6946247 [T/G] NM_014262 LEPREL2 EXON Missense_R519L exm979001 12 6946648 [T/G] NM_014262 LEPREL2 EXON Missense_G541W exm979002 12 6946654 [A/G] NM_014262 LEPREL2 EXON Missense_G543R exm979008 12 6946718 [A/G] NM_014262 LEPREL2 EXON Missense_C564Y exm979018 12 6947122 [T/C] NM_014262 LEPREL2 EXON Missense_A610V exm979019 12 6947123 [A/G] NM_014262 LEPREL2 EXON Synonymous_A610A exm979023 12 6947196 [T/C] NM_014262 LEPREL2 EXON Missense_R635W exm979024 12 6947197 [A/G] NM_014262 LEPREL2 EXON Missense_R635Q exm979025 12 6948168 [A/G] NM_014262 LEPREL2 EXON Missense_G637R exm979028 12 6948229 [A/G] NM_014262 LEPREL2 EXON Missense_G657E exm979034 12 6948468 [T/C] NM_014262 LEPREL2 EXON Missense_X685Q exm979051 12 6952177 [T/C] NM_002075 GNB3 EXON Missense_T47M exm979059 12 6952237 [T/C] NM_002075 GNB3 EXON Missense_S67F exm1784052 12 6952602 [A/G] NM_002075 GNB3 EXON Missense_G115R exm979068 12 6952645 [A/G] NM_002075 GNB3 EXON Missense_R129H exm979069 12 6952660 [A/G] NM_002075 GNB3 EXON Missense_K134R exm1784053 12 6952799 [A/C] NM_002075 GNB3 EXON Missense_Y145S exm979088 12 6954849 [A/G] NM_002075 GNB3 EXON Missense_E267K exm979090 12 6954864 [A/G] NM_002075 GNB3 EXON Missense_G272S exm979098 12 6954961 [A/G] NM_002075 GNB3 EXON Missense_R304H exm979108 12 6958257 [T/C] NM_031299 CDCA3 EXON Missense_G253S exm979111 12 6958356 [A/G] NM_031299 CDCA3 EXON Missense_R220W exm979113 12 6958509 [T/G] NM_031299 CDCA3 EXON Missense_P210H exm1784067 12 6958801 [A/G] NM_031299 CDCA3 EXON Missense_P158S exm979117 12 6958948 [T/C] NM_031299 CDCA3 EXON Missense_E109K exm1784069 12 6958953 [A/G] NM_031299 CDCA3 EXON Missense_P107L exm979120 12 6959016 [T/G] NM_031299 CDCA3 EXON Missense_P86Q exm979125 12 6959727 [T/C] NM_031299 CDCA3 EXON Missense_G52R exm979126 12 6959751 [A/G] NM_031299 CDCA3 EXON Missense_S44P exm979136 12 6961405 [T/C] NM_001098536,NM_003481 USP5,USP5 EXON Missense_A21V,Missense_A21V exm979146 12 6964959 [A/G] NM_001098536,NM_003481 USP5,USP5 EXON Missense_R93Q,Missense_R93Q exm979158 12 6965502 [A/G] NM_001098536,NM_003481 USP5,USP5 EXON Missense_D158N,Missense_D158N exm979167 12 6965878 [A/G] NM_001098536,NM_003481 USP5,USP5 EXON Missense_K198E,Missense_K198E exm979171 12 6965999 [A/G] NM_001098536,NM_003481 USP5,USP5 EXON Missense_R238Q,Missense_R238Q exm979189 12 6967709 [A/G] NM_001098536,NM_003481 USP5,USP5 EXON Missense_R329Q,Missense_R329Q exm979192 12 6968634 [A/G] NM_001098536,NM_003481 USP5,USP5 EXON Synonymous_K353K,Synonymous_K353K exm979202 12 6969373 [A/G] NM_001098536,NM_003481 USP5,USP5 EXON Missense_G397S,Missense_G397S exm979203 12 6969376 [A/G] NM_001098536,NM_003481 USP5,USP5 EXON Missense_D398N,Missense_D398N exm1784115 12 6969625 [A/G] NM_001098536,NM_003481 USP5,USP5 EXON Synonymous_E438E,Synonymous_E438E exm979209 12 6969644 [A/C] NM_001098536,NM_003481 USP5,USP5 EXON Missense_N445H,Missense_N445H exm1784119 12 6970220 [T/C] NM_001098536,NM_003481 USP5,USP5 EXON Missense_V483A,Missense_V483A exm979255 12 6976669 [T/G] NM_001159287 TPI1 EXON Missense_I17R exm979261 12 6976702 [C/G] NM_001159287,NM_000365 TPI1,TPI1 EXON Missense_T28S,Silent exm979262 12 6976720 [A/G] NM_001159287,NM_000365 TPI1,TPI1 EXON Missense_G34D,Silent exm979277 12 6978338 [G/C] NM_001159287,NM_000365,NM_001258026 TPI1,TPI1,TPI1 EXON Missense_E142D,Missense_E105D,Missense_E23D exm979283 12 6978545 [T/G] NM_001159287,NM_000365,NM_001258026 TPI1,TPI1,TPI1 EXON Missense_V187F,Missense_V150F,Missense_V68F exm979285 12 6978857 [A/G] NM_001159287,NM_000365,NM_001258026 TPI1,TPI1,TPI1 EXON Missense_V192M,Missense_V155M,Missense_V73M exm979311 12 6980415 [T/C] NM_001146316,NM_032641 SPSB2,SPSB2 EXON Missense_G245S,Missense_G245S exm979317 12 6980482 [T/C] NM_001146316,NM_032641 SPSB2,SPSB2 EXON Synonymous_A222A,Synonymous_A222A exm979326 12 6981526 [T/G] NM_001146316,NM_032641 SPSB2,SPSB2 EXON Nonsense_Y180X,Nonsense_Y180X exm979328 12 6981586 [G/C] NM_001146316,NM_032641 SPSB2,SPSB2 EXON Missense_Q160H,Missense_Q160H exm2221066 12 6982162 [T/C] NM_001146316,NM_032641 SPSB2,SPSB2 Silent,Silent exm979349 12 7015075 [A/C] NM_001135217,NM_006992,NM_201650 LRRC23,LRRC23,LRRC23 EXON Missense_N65H,Missense_N65H,Missense_N65H exm979352 12 7015117 [A/G] NM_001135217,NM_006992,NM_201650 LRRC23,LRRC23,LRRC23 EXON Missense_R79G,Missense_R79G,Missense_R79G exm979360 12 7015707 [T/G] NM_001135217,NM_006992,NM_201650 LRRC23,LRRC23,LRRC23 EXON Missense_R124L,Missense_R124L,Missense_R124L exm979374 12 7016596 [A/G] NM_001135217,NM_006992,NM_201650 LRRC23,LRRC23,LRRC23 EXON Missense_K203R,Missense_K203R,Missense_K203R exm1784312 12 7016599 [A/T] NM_001135217,NM_006992,NM_201650 LRRC23,LRRC23,LRRC23 EXON Missense_N204I,Missense_N204I,Missense_N204I exm1784337 12 7021983 [T/C] NM_001135217,NM_006992,NM_201650 LRRC23,LRRC23,LRRC23 EXON Missense_T283M,Silent,Missense_T283M exm979396 12 7023110 [A/C] NM_001135217,NM_006992,NM_201650 LRRC23,LRRC23,LRRC23 EXON Silent,Missense_M272L,Silent exm979397 12 7023123 [A/G] NM_001135217,NM_006992,NM_201650 LRRC23,LRRC23,LRRC23 EXON Silent,Missense_E276G,Silent exm979403 12 7023225 [T/G] NM_001135217,NM_006992,NM_201650 LRRC23,LRRC23,LRRC23 EXON Silent,Missense_W310L,Silent exm979428 12 7028820 [A/G] NM_001975 ENO2 EXON Missense_R253H exm979469 12 7044960 [A/G] NM_001007026,NM_001940 ATN1,ATN1 EXON Missense_R177Q,Missense_R177Q exm979470 12 7044966 [T/C] NM_001007026,NM_001940 ATN1,ATN1 EXON Missense_P179L,Missense_P179L exm979475 12 7045074 [T/C] NM_001007026,NM_001940 ATN1,ATN1 EXON Missense_P215L,Missense_P215L exm979476 12 7045127 [A/G] NM_001007026,NM_001940 ATN1,ATN1 EXON Missense_M233V,Missense_M233V exm979477 12 7045136 [A/C] NM_001007026,NM_001940 ATN1,ATN1 EXON Missense_K236Q,Missense_K236Q exm979484 12 7045178 [A/G] NM_001007026,NM_001940 ATN1,ATN1 EXON Missense_G250S,Missense_G250S exm979487 12 7045254 [T/C] NM_001007026,NM_001940 ATN1,ATN1 EXON Missense_P275L,Missense_P275L exm979489 12 7045305 [G/C] NM_001007026,NM_001940 ATN1,ATN1 EXON Missense_A292G,Missense_A292G exm979496 12 7045503 [G/C] NM_001007026,NM_001940 ATN1,ATN1 EXON Missense_S358C,Missense_S358C exm979512 12 7045876 [C/G] NM_001007026,NM_001940 ATN1,ATN1 EXON Missense_H482Q,Missense_H482Q exm979513 12 7045879 [A/C] NM_001007026,NM_001940 ATN1,ATN1 EXON Missense_H483Q,Missense_H483Q exm979533 12 7046003 [T/C] NM_001007026,NM_001940 ATN1,ATN1 EXON Missense_H525Y,Missense_H525Y exm2251165 12 7046290 [T/C] NM_001007026,NM_001940 ATN1,ATN1 EXON Synonymous_T620T,Synonymous_T620T exm979555 12 7046295 [G/C] NM_001007026,NM_001940 ATN1,ATN1 EXON Missense_A622G,Missense_A622G exm979586 12 7047842 [A/G] NM_001007026,NM_001940 ATN1,ATN1 EXON Missense_V906M,Missense_V906M exm979589 12 7047911 [A/G] NM_001007026,NM_001940 ATN1,ATN1 EXON Missense_A929T,Missense_A929T exm979591 12 7047949 [C/G] NM_001007026,NM_001940 ATN1,ATN1 EXON Missense_D941E,Missense_D941E exm979592 12 7047954 [A/G] NM_001007026,NM_001940 ATN1,ATN1 EXON Missense_R943H,Missense_R943H exm979595 12 7048145 [A/G] NM_001007026,NM_001940 ATN1,ATN1 EXON Missense_A1007T,Missense_A1007T exm979598 12 7048221 [T/C] NM_001007026,NM_001940 ATN1,ATN1 EXON Missense_A1032V,Missense_A1032V exm979619 12 7050931 [A/C] NM_001007026,NM_001940 ATN1,ATN1 EXON Missense_D1187E,Missense_D1187E exm979634 12 7053321 [A/G] NM_138425 C12orf57 EXON Missense_A13T exm979639 12 7053648 [T/C] NM_138425 C12orf57 EXON Missense_A21V exm979641 12 7053672 [T/C] NM_138425 C12orf57 EXON Missense_A29V exm979647 12 7054961 [A/G] NM_138425 C12orf57 EXON Missense_K86R exm2251167 12 7060889 [T/C] NM_080548,NM_002831,NM_080549 PTPN6,PTPN6,PTPN6 EXON Synonymous_S44S,Synonymous_S42S,Synonymous_S42S exm979690 12 7064576 [A/C] NM_080548,NM_002831,NM_080549 PTPN6,PTPN6,PTPN6 EXON Missense_N227K,Missense_N225K,Missense_N225K exm979714 12 7067226 [A/G] NM_080548,NM_002831,NM_080549 PTPN6,PTPN6,PTPN6 EXON Missense_V453M,Missense_V451M,Missense_V451M exm979719 12 7069329 [T/C] NM_080548,NM_002831,NM_080549 PTPN6,PTPN6,PTPN6 EXON Missense_A505V,Missense_A503V,Missense_A503V exm979728 12 7069583 [T/C] NM_080548,NM_002831,NM_080549 PTPN6,PTPN6,PTPN6 EXON Missense_S555F,Missense_S553F,Missense_S553F exm979731 12 7069836 [T/C] NM_080548,NM_002831,NM_080549 PTPN6,PTPN6,PTPN6 EXON Silent,Silent,Missense_S562P exm979757 12 7075632 [T/G] NM_001267700,NM_001144831 PHB2,PHB2 EXON Missense_T236K,Missense_T274K exm979808 12 7080124 [T/G] NM_006331 EMG1 EXON Missense_R13L exm979818 12 7083780 [C/G] NM_006331 EMG1 EXON Missense_T112R exm979825 12 7084432 [T/C] NM_006331 EMG1 EXON Missense_Y171H exm979827 12 7084475 [A/G] NM_006331 EMG1 EXON Missense_C185Y exm979829 12 7084495 [T/C] NM_006331 EMG1 EXON Nonsense_Q192X exm979831 12 7084877 [A/G] NM_006331 EMG1 EXON Synonymous_R213R exm979838 12 7086343 [T/C] NM_005768 LPCAT3 EXON Missense_V477M exm2221084 12 7086893 [T/C] NM_005768 LPCAT3 EXON Missense_R352Q exm979848 12 7086902 [A/G] NM_005768 LPCAT3 EXON Missense_I349T exm979850 12 7087551 [A/G] NM_005768 LPCAT3 EXON Missense_T331I exm979862 12 7090193 [A/G] NM_005768 LPCAT3 EXON Missense_I217T exm979872 12 7091863 [T/C] NM_005768 LPCAT3 EXON Missense_V114I exm979874 12 7091872 [T/C] NM_005768 LPCAT3 EXON Missense_I111V exm979876 12 7091899 [A/G] NM_005768 LPCAT3 EXON Missense_L102F exm979881 12 7092665 [A/G] NM_005768 LPCAT3 EXON Missense_F63L exm979898 12 7169861 [C/G] NM_001734,NM_201442 C1S,C1S EXON Missense_Q30E,Missense_Q30E exm979899 12 7169873 [A/G] NM_001734,NM_201442 C1S,C1S EXON Missense_S34G,Missense_S34G exm979911 12 7170336 [A/G] NM_001734,NM_201442 C1S,C1S EXON Missense_R119H,Missense_R119H exm979930 12 7172542 [A/G] NM_001734,NM_201442 C1S,C1S EXON Missense_R219Q,Missense_R219Q exm979931 12 7172566 [T/C] NM_001734,NM_201442 C1S,C1S EXON Missense_A227V,Missense_A227V exm979939 12 7173197 [A/G] NM_001734,NM_201442 C1S,C1S EXON Missense_S265N,Missense_S265N exm979945 12 7173870 [T/C] NM_001734,NM_201442 C1S,C1S EXON Missense_A307V,Missense_A307V exm979946 12 7173884 [A/G] NM_001734,NM_201442 C1S,C1S EXON Missense_V312I,Missense_V312I exm979947 12 7173893 [A/G] NM_001734,NM_201442 C1S,C1S EXON Missense_D315N,Missense_D315N exm979948 12 7173929 [C/G] NM_001734,NM_201442 C1S,C1S EXON Missense_V327L,Missense_V327L exm979958 12 7175028 [A/G] NM_001734,NM_201442 C1S,C1S EXON Missense_R383H,Missense_R383H exm1784777 12 7175800 [C/G] NM_001734,NM_201442 C1S,C1S EXON Missense_E412D,Missense_E412D exm979965 12 7175824 [A/C] NM_001734,NM_201442 C1S,C1S EXON Missense_K420N,Missense_K420N exm979967 12 7177171 [G/C] NM_001734,NM_201442 C1S,C1S EXON Missense_P428R,Missense_P428R exm2251171 12 7177214 [T/C] NM_001734,NM_201442 C1S,C1S EXON Synonymous_S442S,Synonymous_S442S exm979976 12 7177488 [T/C] NM_001734,NM_201442 C1S,C1S EXON Missense_R534W,Missense_R534W exm979991 12 7187854 [T/C] NM_001733 C1R EXON Missense_R623K exm979992 12 7187941 [T/C] NM_001733 C1R EXON Missense_R594Q exm979998 12 7188013 [T/C] NM_001733 C1R EXON Missense_R570K exm979999 12 7188070 [A/G] NM_001733 C1R EXON Missense_I551T exm980004 12 7188309 [A/C] NM_001733 C1R EXON Missense_R471S exm980005 12 7188322 [T/C] NM_001733 C1R EXON Missense_R467Q exm980013 12 7188502 [A/G] NM_001733 C1R EXON Missense_T407M exm980015 12 7188562 [T/G] NM_001733 C1R EXON Nonsense_S387X exm980016 12 7188565 [A/G] NM_001733 C1R EXON Missense_A386V exm980017 12 7188583 [C/G] NM_001733 C1R EXON Missense_P380R exm980018 12 7241211 [T/G] NM_001733 C1R EXON Missense_I345L exm980025 12 7241471 [T/C] NM_001733 C1R EXON Missense_D294N exm980030 12 7241570 [T/C] NM_001733 C1R EXON Missense_G261R exm980035 12 7242001 [A/C] NM_001733 C1R EXON Missense_R219L exm980036 12 7242010 [C/G] NM_001733 C1R EXON Missense_P216R exm980042 12 7242204 [T/C] NM_001733 C1R EXON Missense_E184K exm980043 12 7242224 [T/C] NM_001733 C1R EXON Missense_R177H exm980046 12 7242299 [A/G] NM_001733 C1R EXON Missense_S152L exm980049 12 7242328 [A/G] NM_001733 C1R EXON Synonymous_D142D exm980052 12 7242740 [G/C] NM_001733 C1R EXON Missense_M112I exm980053 12 7242742 [T/C] NM_001733 C1R EXON Missense_M112V exm980059 12 7242799 [A/C] NM_001733 C1R EXON Missense_G93C exm980067 12 7244253 [A/G] NM_001733 C1R EXON Missense_P9L exm980074 12 7249136 [T/C] NM_016546 C1RL EXON Missense_V439I exm980076 12 7249186 [A/G] NM_016546 C1RL EXON Missense_V422A exm980088 12 7249349 [A/G] NM_016546 C1RL EXON Missense_R368C exm980095 12 7249472 [T/C] NM_016546 C1RL EXON Missense_D327N exm2274557 12 7249489 [A/C] NM_016546 C1RL EXON Missense_R321L exm980099 12 7249520 [A/T] NM_016546 C1RL EXON Missense_M311L exm980100 12 7249544 [A/C] NM_016546 C1RL EXON Missense_L303V exm980112 12 7252497 [T/C] NM_016546 C1RL EXON Missense_G206R exm980113 12 7252506 [T/C] NM_016546 C1RL EXON Missense_A203T exm2221107 12 7254637 [T/C] NM_016546 C1RL EXON Missense_G116D exm980125 12 7254671 [T/C] NM_016546 C1RL EXON Missense_G105S exm1785163 12 7254674 [T/C] NM_016546 C1RL EXON Missense_V104I exm980133 12 7260930 [G/C] NM_016546,NR_026947 C1RL,C1RL-AS1 EXON Missense_A73P,Silent exm980143 12 7261040 [T/C] NM_016546,NR_026947 C1RL,C1RL-AS1 EXON Missense_C36Y,Silent exm980157 12 7277251 [A/G] NM_031491 RBP5 EXON Missense_W110R exm2221111 12 7280874 [G/C] NM_031491 RBP5 EXON Missense_E72Q exm980167 12 7280924 [A/G] NM_031491 RBP5 EXON Missense_L55P exm980178 12 7281317 [T/C] NM_031491 RBP5 EXON Missense_D19N exm1785230 12 7283255 [T/A] NM_014718 CLSTN3 EXON Missense_L4Q exm980184 12 7283287 [T/G] NM_014718 CLSTN3 EXON Missense_A15S exm980198 12 7286336 [A/G] NM_014718 CLSTN3 EXON Missense_D119N exm980209 12 7288041 [T/G] NM_014718 CLSTN3 EXON Missense_A168S exm980217 12 7288432 [A/G] NM_014718 CLSTN3 EXON Missense_S209G exm980218 12 7288440 [C/G] NM_014718 CLSTN3 EXON Missense_E211D exm980219 12 7288448 [A/G] NM_014718 CLSTN3 EXON Missense_Y214C exm1785254 12 7288841 [A/G] NM_014718 CLSTN3 EXON Missense_S261N exm980235 12 7289685 [A/G] NM_014718 CLSTN3 EXON Missense_V397I exm980239 12 7290617 [T/A] NM_014718 CLSTN3 EXON Missense_L426Q exm980250 12 7293976 [G/C] NM_014718 CLSTN3 EXON Missense_L488V exm980255 12 7294695 [A/T] NM_014718 CLSTN3 EXON Missense_K500N exm980259 12 7295488 [T/C] NM_014718 CLSTN3 EXON Missense_Y522H exm980270 12 7295814 [A/C] NM_014718 CLSTN3 EXON Missense_T585N exm980281 12 7301644 [G/C] NM_014718 CLSTN3 EXON Missense_Q642E exm980293 12 7302172 [A/C] NM_014718 CLSTN3 EXON Missense_I710L exm980307 12 7303196 [G/C] NM_014718 CLSTN3 EXON Missense_R768G exm980315 12 7303548 [T/C] NM_014718 CLSTN3 EXON Missense_R806W exm2267317 12 7309199 [A/G] NM_014718 CLSTN3 Silent exm980329 12 7310123 [A/G] NM_014718 CLSTN3 EXON Missense_V856M exm980344 12 7310610 [T/C] NM_014718 CLSTN3 EXON Missense_S935L exm980349 12 7310658 [A/C] NM_014718 CLSTN3 EXON Missense_T951N exm980363 12 7343833 [A/C] NM_001131026,NM_001131025,NM_001131024,NM_001131023,NM_000319 PEX5,PEX5,PEX5,PEX5,PEX5 EXON Missense_E65D,Missense_E65D,Missense_E65D,Missense_E80D,Missense_E65D exm980367 12 7344219 [G/C] NM_001131026,NM_001131025,NM_001131024,NM_001131023,NM_000319 PEX5,PEX5,PEX5,PEX5,PEX5 EXON Missense_A124G,Missense_A124G,Missense_A124G,Missense_A139G,Missense_A124G exm980380 12 7354385 [T/C] NM_001131026,NM_001131025,NM_001131024,NM_001131023,NM_000319 PEX5,PEX5,PEX5,PEX5,PEX5 EXON Missense_T197M,Missense_T197M,Missense_T197M,Missense_T212M,Missense_T197M exm980382 12 7354399 [C/G] NM_001131026,NM_001131025,NM_001131024,NM_001131023,NM_000319 PEX5,PEX5,PEX5,PEX5,PEX5 EXON Missense_V202L,Missense_V202L,Missense_V202L,Missense_V217L,Missense_V202L exm980389 12 7354852 [T/C] NM_001131026,NM_001131025,NM_001131024,NM_001131023,NM_000319 PEX5,PEX5,PEX5,PEX5,PEX5 EXON Missense_R220W,Missense_R220W,Silent,Missense_R235W,Missense_R220W exm980390 12 7354853 [A/G] NM_001131026,NM_001131025,NM_001131024,NM_001131023,NM_000319 PEX5,PEX5,PEX5,PEX5,PEX5 EXON Missense_R220Q,Missense_R220Q,Silent,Missense_R235Q,Missense_R220Q exm980398 12 7355269 [T/C] NM_001131026,NM_001131025,NM_001131024,NM_001131023,NM_000319 PEX5,PEX5,PEX5,PEX5,PEX5 EXON Missense_M272T,Missense_M272T,Missense_M235T,Missense_M287T,Missense_M272T exm980403 12 7360286 [A/G] NM_001131026,NM_001131025,NM_001131024,NM_001131023,NM_000319 PEX5,PEX5,PEX5,PEX5,PEX5 EXON Missense_R333H,Missense_R333H,Missense_R296H,Missense_R348H,Missense_R325H exm980410 12 7360673 [A/G] NM_001131026,NM_001131025,NM_001131024,NM_001131023,NM_000319 PEX5,PEX5,PEX5,PEX5,PEX5 EXON Missense_R393Q,Missense_R393Q,Missense_R356Q,Missense_R408Q,Missense_R385Q exm980416 12 7361163 [A/G] NM_001131026,NM_001131025,NM_001131024,NM_001131023,NM_000319 PEX5,PEX5,PEX5,PEX5,PEX5 EXON Missense_R431Q,Missense_R431Q,Missense_R394Q,Missense_R446Q,Missense_R423Q exm980418 12 7361223 [A/G] NM_001131026,NM_001131025,NM_001131024,NM_001131023,NM_000319 PEX5,PEX5,PEX5,PEX5,PEX5 EXON Missense_G451E,Missense_G451E,Missense_G414E,Missense_G466E,Missense_G443E exm1785357 12 7361239 [T/G] NM_001131026,NM_001131025,NM_001131024,NM_001131023,NM_000319 PEX5,PEX5,PEX5,PEX5,PEX5 EXON Missense_K456N,Missense_K456N,Missense_K419N,Missense_K471N,Missense_K448N exm980427 12 7361728 [A/G] NM_001131026,NM_001131025,NM_001131024,NM_001131023,NM_000319 PEX5,PEX5,PEX5,PEX5,PEX5 EXON Missense_V508M,Missense_V508M,Missense_V471M,Missense_V523M,Missense_V500M exm980429 12 7361765 [A/G] NM_001131026,NM_001131025,NM_001131024,NM_001131023,NM_000319 PEX5,PEX5,PEX5,PEX5,PEX5 EXON Missense_N520S,Missense_N520S,Missense_N483S,Missense_N535S,Missense_N512S exm980447 12 7362713 [A/G] NM_001131026,NM_001131025,NM_001131024,NM_001131023,NM_000319 PEX5,PEX5,PEX5,PEX5,PEX5 EXON Missense_S605N,Missense_S605N,Missense_S568N,Missense_S620N,Missense_S597N exm980448 12 7362722 [A/G] NM_001131026,NM_001131025,NM_001131024,NM_001131023,NM_000319 PEX5,PEX5,PEX5,PEX5,PEX5 EXON Missense_R608H,Missense_R608H,Missense_R571H,Missense_R623H,Missense_R600H exm980456 12 7362772 [A/G] NM_001131026,NM_001131025,NM_001131024,NM_001131023,NM_000319 PEX5,PEX5,PEX5,PEX5,PEX5 EXON Missense_A625T,Missense_A625T,Missense_A588T,Missense_A640T,Missense_A617T exm980460 12 7362796 [A/C] NM_001131026,NM_001131025,NM_001131024,NM_001131023,NM_000319 PEX5,PEX5,PEX5,PEX5,PEX5 EXON Missense_T633P,Missense_T633P,Missense_T596P,Missense_T648P,Missense_T625P exm980461 12 7362801 [A/G] NM_001131026,NM_001131025,NM_001131024,NM_001131023,NM_000319 PEX5,PEX5,PEX5,PEX5,PEX5 EXON Missense_M634I,Missense_M634I,Missense_M597I,Missense_M649I,Missense_M626I exm980467 12 7456988 [T/C] NM_001080454 ACSM4 EXON Missense_R21W exm980468 12 7456991 [T/C] NM_001080454 ACSM4 EXON Missense_R22C exm1785412 12 7457072 [T/C] NM_001080454 ACSM4 EXON Missense_P49S exm980478 12 7459280 [T/C] NM_001080454 ACSM4 EXON Missense_A118V exm1785421 12 7463267 [A/G] NM_001080454 ACSM4 EXON Missense_C182Y exm980498 12 7463324 [T/G] NM_001080454 ACSM4 EXON Missense_S201I exm980499 12 7469737 [A/G] NM_001080454 ACSM4 EXON Missense_A209T exm980501 12 7469753 [C/G] NM_001080454 ACSM4 EXON Missense_S214T exm1785428 12 7470744 [A/G] NM_001080454 ACSM4 EXON Missense_R296Q exm980517 12 7470749 [T/G] NM_001080454 ACSM4 EXON Missense_A298S exm980525 12 7475081 [T/C] NM_001080454 ACSM4 EXON Nonsense_Q357X exm2221115 12 7475130 [T/C] NM_001080454 ACSM4 EXON Missense_T373M exm980537 12 7476127 [A/C] NM_001080454 ACSM4 EXON Synonymous_R427R exm980538 12 7476145 [T/G] NM_001080454 ACSM4 EXON Missense_S433A exm980540 12 7476894 [T/C] NM_001080454 ACSM4 EXON Missense_T445M exm980544 12 7477100 [A/G] NM_001080454 ACSM4 EXON Missense_R481H exm980550 12 7477186 [T/C] NM_001080454 ACSM4 EXON Missense_R510C exm2274558 12 7479600 [A/C] NM_001080454 ACSM4 EXON Missense_A522E exm980557 12 7480931 [T/C] NM_001080454 ACSM4 EXON Missense_R569C exm2221117 12 7507726 [T/G] NM_174941 CD163L1 EXON Silent exm980561 12 7510040 [G/C] NM_174941 CD163L1 EXON Missense_S1441W exm980562 12 7510043 [A/G] NM_174941 CD163L1 EXON Missense_T1440I exm980570 12 7520724 [A/G] NM_174941 CD163L1 EXON Missense_T1381M exm980573 12 7521535 [A/G] NM_174941 CD163L1 EXON Missense_S1356P exm980585 12 7522073 [T/C] NM_174941 CD163L1 EXON Missense_T1307A exm1785452 12 7522157 [T/C] NM_174941 CD163L1 EXON Missense_E1279K exm1785453 12 7522171 [T/G] NM_174941 CD163L1 EXON Missense_S1274Y exm980590 12 7522232 [T/C] NM_174941 CD163L1 EXON Missense_E1254K exm980599 12 7526084 [T/C] NM_174941 CD163L1 EXON Missense_E1188K exm980603 12 7526132 [A/T] NM_174941 CD163L1 EXON Missense_I1172F exm980604 12 7526149 [T/C] NM_174941 CD163L1 EXON Missense_S1166N exm980605 12 7526166 [T/A] NM_174941 CD163L1 EXON Nonsense_Y1160X exm1785460 12 7527101 [A/G] NM_174941 CD163L1 EXON Missense_P1116S exm980614 12 7527124 [A/G] NM_174941 CD163L1 EXON Missense_M1108T exm980633 12 7528041 [A/G] NM_174941 CD163L1 EXON Missense_A946V exm980644 12 7528192 [T/C] NM_174941 CD163L1 Silent exm980645 12 7528296 [A/G] NM_174941 CD163L1 EXON Nonsense_R896X exm980648 12 7528404 [T/C] NM_174941 CD163L1 EXON Missense_E860K exm980657 12 7531685 [T/C] NM_174941 CD163L1 EXON Missense_M754V exm980660 12 7531757 [T/G] NM_174941 CD163L1 EXON Missense_Q730K exm980661 12 7531760 [T/C] NM_174941 CD163L1 EXON Missense_R729G exm980666 12 7531814 [T/C] NM_174941 CD163L1 EXON Missense_V711M exm980679 12 7548888 [T/G] NM_174941 CD163L1 EXON Missense_A618D exm980684 12 7548934 [A/G] NM_174941 CD163L1 EXON Missense_R603W exm980685 12 7548943 [A/G] NM_174941 CD163L1 EXON Missense_F600L exm980686 12 7548946 [A/T] NM_174941 CD163L1 EXON Missense_Y599N exm980687 12 7548969 [A/C] NM_174941 CD163L1 EXON Missense_R591L exm980689 12 7548996 [C/G] NM_174941 CD163L1 EXON Missense_G582A exm980691 12 7549009 [T/C] NM_174941 CD163L1 EXON Missense_D578N exm980692 12 7550868 [A/G] NM_174941 CD163L1 EXON Missense_T574I exm980699 12 7551022 [A/T] NM_174941 CD163L1 EXON Missense_L523M exm980708 12 7556160 [T/C] NM_174941 CD163L1 EXON Missense_R460Q exm980711 12 7556241 [A/C] NM_174941 CD163L1 EXON Missense_I433R exm980713 12 7556280 [T/C] NM_174941 CD163L1 EXON Missense_R420H exm980715 12 7556293 [T/C] NM_174941 CD163L1 EXON Missense_V416I exm980720 12 7559129 [T/C] NM_174941 CD163L1 EXON Synonymous_S362S exm980728 12 7559281 [A/C] NM_174941 CD163L1 EXON Missense_A312S exm980733 12 7559359 [T/C] NM_174941 CD163L1 EXON Missense_V286I exm2221120 12 7559400 [A/G] NM_174941 CD163L1 EXON Missense_M272T exm1785563 12 7585120 [T/C] NM_174941 CD163L1 EXON Missense_D220N exm980752 12 7585971 [A/G] NM_174941 CD163L1 EXON Synonymous_Y148Y exm980754 12 7586017 [T/C] NM_174941 CD163L1 EXON Missense_G133E exm980756 12 7586047 [C/G] NM_174941 CD163L1 EXON Missense_A123G exm980760 12 7586119 [T/C] NM_174941 CD163L1 EXON Missense_R99H exm980766 12 7586260 [T/C] NM_174941 CD163L1 EXON Missense_N52S exm980768 12 7586291 [T/C] NM_174941 CD163L1 Silent exm2271820 12 7586595 [T/C] NM_174941 CD163L1 Silent exm980774 12 7596713 [A/G] NM_174941 CD163L1 EXON Missense_P4L exm980777 12 7632492 [A/G] NM_004244,NM_203416 CD163,CD163 EXON Synonymous_H1148H,Missense_H1121Y exm980779 12 7632533 [T/G] NM_004244,NM_203416 CD163,CD163 EXON Missense_L1135I,Silent exm980781 12 7632565 [T/C] NM_004244,NM_203416 CD163,CD163 EXON Missense_S1124N,Silent exm980784 12 7633790 [A/T] NM_004244,NM_203416 CD163,CD163 EXON Missense_N1104Y,Missense_N1104Y exm980785 12 7633810 [T/C] NM_004244,NM_203416 CD163,CD163 EXON Missense_R1097Q,Missense_R1097Q exm980787 12 7635290 [T/C] NM_004244,NM_203416 CD163,CD163 EXON Missense_V1066I,Missense_V1066I exm980806 12 7637732 [T/G] NM_004244,NM_203416 CD163,CD163 EXON Missense_R913S,Missense_R913S exm980807 12 7637769 [A/G] NM_004244,NM_203416 CD163,CD163 EXON Missense_T901M,Missense_T901M exm980809 12 7637821 [T/C] NM_004244,NM_203416 CD163,CD163 EXON Missense_M884V,Missense_M884V exm980826 12 7639538 [T/C] NM_004244,NM_203416 CD163,CD163 EXON Missense_G699S,Missense_G699S exm980830 12 7640079 [T/A] NM_004244,NM_203416 CD163,CD163 EXON Missense_N642K,Missense_N642K exm980840 12 7640395 [T/C] NM_004244,NM_203416 CD163,CD163 EXON Missense_S570N,Missense_S570N exm980841 12 7640420 [A/G] NM_004244,NM_203416 CD163,CD163 EXON Missense_R562C,Missense_R562C exm980842 12 7640495 [T/C] NM_004244,NM_203416 CD163,CD163 EXON Missense_N537D,Missense_N537D exm980848 12 7640601 [A/G] NM_004244,NM_203416 CD163,CD163 EXON Synonymous_S501S,Synonymous_S501S exm2251191 12 7640601 [A/G] NM_004244,NM_203416 CD163,CD163 EXON Synonymous_S501S,Synonymous_S501S exm980849 12 7640611 [A/G] NM_004244,NM_203416 CD163,CD163 EXON Missense_T498M,Missense_T498M exm980859 12 7649484 [T/C] NM_004244,NM_203416 CD163,CD163 EXON Missense_I342V,Missense_I342V exm980863 12 7649556 [A/G] NM_004244,NM_203416 CD163,CD163 EXON Nonsense_R318X,Nonsense_R318X exm2221128 12 7651599 [T/C] NM_004244,NM_203416 CD163,CD163 EXON Missense_G215R,Missense_G215R exm980877 12 7653842 [T/C] NM_004244,NM_203416 CD163,CD163 EXON Missense_H117R,Missense_H117R exm980891 12 7654029 [C/G] NM_004244,NM_203416 CD163,CD163 EXON Missense_D55H,Missense_D55H exm980894 12 7655094 [C/G] NM_004244,NM_203416 CD163,CD163 EXON Missense_C38S,Missense_C38S exm2221129 12 7655133 [T/C] NM_004244,NM_203416 CD163,CD163 EXON Missense_S25N,Missense_S25N exm-rs7136716 12 7691134 [A/G] exm-rs4883421 12 7774028 [A/G] exm980901 12 7802143 [T/G] NM_001644 APOBEC1 EXON Missense_X237C exm980902 12 7802147 [T/C] NM_001644 APOBEC1 EXON Missense_R236K exm1786036 12 7803708 [T/C] NM_001644 APOBEC1 EXON Missense_N158D exm980915 12 7805154 [A/G] NM_001644 APOBEC1 EXON Missense_P108S exm1786038 12 7805161 [A/C] NM_001644 APOBEC1 EXON Missense_S105R exm980926 12 7805403 [T/C] NM_001644 APOBEC1 EXON Missense_V25I exm980927 12 7805414 [T/C] NM_001644 APOBEC1 EXON Nonsense_W21X exm980932 12 7807217 [T/C] NM_001644 APOBEC1 EXON Missense_G10S exm980937 12 7818468 [T/C] NM_001644 APOBEC1 EXON Missense_M1V exm980946 12 7842587 [C/G] NM_020634 GDF3 EXON Missense_V328L exm980952 12 7842773 [A/G] NM_020634 GDF3 EXON Missense_R266C exm980959 12 7842985 [T/C] NM_020634 GDF3 EXON Missense_R195Q exm980960 12 7842986 [A/G] NM_020634 GDF3 EXON Missense_R195W exm980961 12 7842990 [A/G] NM_020634 GDF3 EXON Synonymous_N193N exm980991 12 7864234 [A/C] NM_199286 DPPA3 EXON Missense_S23Y exm981033 12 7869593 [A/G] NM_199286 DPPA3 EXON Missense_S134G exm981041 12 7882199 [T/C] NM_130441,NM_203503 CLEC4C,CLEC4C EXON Missense_Y212C,Missense_Y181C exm981052 12 7894023 [T/C] NM_130441,NM_203503 CLEC4C,CLEC4C EXON Missense_I77V,Missense_I46V exm981054 12 7894056 [A/G] NM_130441,NM_203503 CLEC4C,CLEC4C EXON Missense_P66S,Missense_P35S exm981057 12 7894107 [T/C] NM_130441,NM_203503 CLEC4C,CLEC4C EXON Missense_S49G,Missense_S18G exm981064 12 7899913 [A/C] NM_130441,NM_203503 CLEC4C,CLEC4C Silent,Silent exm2221158 12 7917895 [G/C] NM_001145465 NANOGNB EXON Missense_R5P exm981072 12 7922649 [A/G] NM_001145465 NANOGNB EXON Missense_N58S exm981089 12 7942349 [A/C] NM_024865 NANOG EXON Missense_H47N exm981112 12 7947301 [A/C] NM_024865 NANOG EXON Missense_S176R exm2271681 12 7960402 [T/C] exm981147 12 7970453 [T/C] NM_153449 SLC2A14 EXON Missense_V440I exm981184 12 7984236 [A/G] NM_153449 SLC2A14 EXON Missense_S102F exm981190 12 7985318 [A/C] NM_153449 SLC2A14 EXON Synonymous_T60T exm2264487 12 7985752 [A/C] NM_153449 SLC2A14 Silent exm981241 12 8075589 [A/G] NM_006931 SLC2A3 EXON Missense_I367T exm981266 12 8083078 [T/C] NM_006931 SLC2A3 EXON Missense_Q224R exm981267 12 8083081 [T/G] NM_006931 SLC2A3 EXON Missense_K223T exm981290 12 8085689 [A/T] NM_006931 SLC2A3 EXON Missense_S55T exm981291 12 8085692 [A/G] NM_006931 SLC2A3 EXON Missense_P54S exm981307 12 8192432 [T/G] NM_018416 FOXJ2 EXON Missense_A2S exm981329 12 8195308 [T/C] NM_018416 FOXJ2 EXON Missense_P130S exm1786698 12 8196598 [A/G] NM_018416 FOXJ2 EXON Missense_V177I exm981340 12 8197477 [A/G] NM_018416 FOXJ2 EXON Missense_N247S exm981342 12 8197553 [T/C] NM_018416 FOXJ2 EXON Synonymous_H272H exm981360 12 8201294 [G/C] NM_018416 FOXJ2 EXON Synonymous_A409A exm1786722 12 8202068 [A/G] NM_018416 FOXJ2 EXON Missense_V480M exm2273489 12 8205479 [T/C] NM_018416 FOXJ2 EXON Silent exm981386 12 8211373 [A/G] NM_004054 C3AR1 EXON Missense_S470L exm981387 12 8211436 [A/G] NM_004054 C3AR1 EXON Missense_S449F exm981395 12 8211590 [G/C] NM_004054 C3AR1 EXON Missense_V398L exm981404 12 8211784 [A/G] NM_004054 C3AR1 EXON Missense_L333P exm981405 12 8211787 [A/G] NM_004054 C3AR1 EXON Missense_P332L exm981423 12 8212221 [A/C] NM_004054 C3AR1 EXON Missense_F187L exm981429 12 8212375 [A/G] NM_004054 C3AR1 EXON Missense_V136A exm981433 12 8212505 [A/C] NM_004054 C3AR1 EXON Missense_F93V exm981437 12 8212527 [G/C] NM_004054 C3AR1 EXON Missense_Q85H exm1786763 12 8212642 [A/C] NM_004054 C3AR1 EXON Missense_V47G exm2251215 12 8242550 [A/G] NM_015509,NR_024260 NECAP1,NECAP1 EXON Synonymous_L38L,Silent exm981459 12 8242845 [T/C] NM_015509,NR_024260 NECAP1,NECAP1 EXON Missense_T84M,Silent exm981461 12 8242857 [T/C] NM_015509,NR_024260 NECAP1,NECAP1 EXON Missense_S88F,Silent exm981478 12 8245645 [A/G] NM_015509,NR_024260 NECAP1,NECAP1 EXON Missense_D224N,Silent exm981482 12 8248649 [A/G] NM_015509,NR_024260 NECAP1,NECAP1 EXON Missense_N264S,Silent exm981485 12 8276536 [T/C] NM_194448,NM_016184,NM_194447,NM_194450 CLEC4A,CLEC4A,CLEC4A,CLEC4A EXON Missense_I21T,Missense_I21T,Missense_I21T,Missense_I21T exm981486 12 8278181 [T/A] NM_194448,NM_016184,NM_194447,NM_194450 CLEC4A,CLEC4A,CLEC4A,CLEC4A EXON Silent,Missense_H36L,Silent,Missense_H36L exm981487 12 8278195 [A/G] NM_194448,NM_016184,NM_194447,NM_194450 CLEC4A,CLEC4A,CLEC4A,CLEC4A EXON Silent,Missense_G41R,Silent,Missense_G41R exm981492 12 8281876 [T/G] NM_194448,NM_016184,NM_194447,NM_194450 CLEC4A,CLEC4A,CLEC4A,CLEC4A EXON Silent,Nonsense_Y72X,Nonsense_Y33X,Silent exm981497 12 8288179 [A/T] NM_194448,NM_016184,NM_194447,NM_194450 CLEC4A,CLEC4A,CLEC4A,CLEC4A Silent,Silent,Silent,Silent exm981501 12 8288288 [A/G] NM_194448,NM_016184,NM_194447,NM_194450 CLEC4A,CLEC4A,CLEC4A,CLEC4A EXON Missense_R64G,Missense_R136G,Missense_R97G,Missense_R103G exm981502 12 8288300 [T/C] NM_194448,NM_016184,NM_194447,NM_194450 CLEC4A,CLEC4A,CLEC4A,CLEC4A EXON Missense_H68Y,Missense_H140Y,Missense_H101Y,Missense_H107Y exm981507 12 8289411 [T/G] NM_194448,NM_016184,NM_194447,NM_194450 CLEC4A,CLEC4A,CLEC4A,CLEC4A EXON Nonsense_E88X,Nonsense_E160X,Nonsense_E121X,Nonsense_E127X exm981510 12 8289461 [A/G] NM_194448,NM_016184,NM_194447,NM_194450 CLEC4A,CLEC4A,CLEC4A,CLEC4A EXON Nonsense_W104X,Nonsense_W176X,Nonsense_W137X,Nonsense_W143X exm981516 12 8290749 [T/C] NM_194448,NM_016184,NM_194447,NM_194450 CLEC4A,CLEC4A,CLEC4A,CLEC4A EXON Missense_R122C,Missense_R194C,Missense_R155C,Missense_R161C exm981518 12 8290773 [T/C] NM_194448,NM_016184,NM_194447,NM_194450 CLEC4A,CLEC4A,CLEC4A,CLEC4A EXON Missense_R130C,Missense_R202C,Missense_R163C,Missense_R169C exm981521 12 8290810 [T/G] NM_194448,NM_016184,NM_194447,NM_194450 CLEC4A,CLEC4A,CLEC4A,CLEC4A EXON Missense_R142I,Missense_R214I,Missense_R175I,Missense_R181I exm2221191 12 8290836 [T/C] NM_194448,NM_016184,NM_194447,NM_194450 CLEC4A,CLEC4A,CLEC4A,CLEC4A EXON Missense_L151F,Missense_L223F,Missense_L184F,Missense_L190F exm2221192 12 8290869 [A/C] NM_194448,NM_016184,NM_194447,NM_194450 CLEC4A,CLEC4A,CLEC4A,CLEC4A EXON Missense_K162Q,Missense_K234Q,Missense_K195Q,Missense_K201Q exm981522 12 8290881 [T/C] NM_194448,NM_016184,NM_194447,NM_194450 CLEC4A,CLEC4A,CLEC4A,CLEC4A EXON Missense_X166R,Missense_X238R,Missense_X199R,Missense_X205R exm981524 12 8325226 [A/C] NM_001004328 ZNF705A EXON Missense_H2P exm981600 12 8374746 [A/G] NM_018088 FAM90A1 EXON Missense_V356A exm981655 12 8376070 [A/G] NM_018088 FAM90A1 EXON Missense_S136F exm981672 12 8376765 [G/C] NM_018088 FAM90A1 EXON Missense_T57S exm981711 12 8608730 [A/C] NM_001007033 CLEC6A EXON Missense_Q8P exm981716 12 8610545 [A/T] NM_001007033 CLEC6A EXON Missense_I28N exm981718 12 8610578 [G/C] NM_001007033 CLEC6A EXON Missense_C39S exm981720 12 8612225 [A/C] NM_001007033 CLEC6A EXON Missense_K52Q exm981721 12 8612254 [A/T] NM_001007033 CLEC6A EXON Missense_H61Q exm981724 12 8612294 [C/G] NM_001007033 CLEC6A EXON Missense_A75P exm981728 12 8618186 [A/G] NM_001007033 CLEC6A EXON Missense_M110I exm1787211 12 8628837 [T/G] NM_001007033 CLEC6A Silent exm981739 12 8630029 [A/C] NM_001007033 CLEC6A EXON Nonsense_S200X exm981748 12 8667856 [T/G] NM_080387 CLEC4D EXON Missense_L18R exm981752 12 8667897 [A/G] NM_080387 CLEC4D EXON Missense_S32G exm981760 12 8670853 [A/G] NM_080387 CLEC4D EXON Missense_E72G exm981761 12 8670856 [T/C] NM_080387 CLEC4D EXON Missense_L73P exm981766 12 8671703 [A/G] NM_080387 CLEC4D EXON Missense_N111D exm981770 12 8672846 [A/G] NM_080387 CLEC4D EXON Missense_R137G exm981772 12 8672850 [A/G] NM_080387 CLEC4D EXON Missense_R138Q exm981775 12 8672901 [A/G] NM_080387 CLEC4D EXON Missense_R155H exm981778 12 8672938 [T/G] NM_080387 CLEC4D Silent exm981780 12 8673799 [T/C] NM_080387 CLEC4D EXON Missense_W194R exm981795 12 8687371 [T/C] NM_014358 CLEC4E EXON Missense_T175A exm981797 12 8687407 [T/C] NM_014358 CLEC4E Silent exm981800 12 8688731 [T/C] NM_014358 CLEC4E EXON Missense_G148D exm1787266 12 8688799 [A/T] NM_014358 CLEC4E EXON Missense_E125D exm981814 12 8691896 [T/A] NM_014358 CLEC4E EXON Missense_F46Y exm981815 12 8692510 [T/C] NM_014358 CLEC4E EXON Nonsense_W24X exm2271682 12 8692843 [T/C] NM_014358 CLEC4E Silent exm2251234 12 8757481 [A/G] NM_020661 AICDA EXON Synonymous_H155H exm981841 12 8757822 [A/G] NM_020661 AICDA EXON Missense_M139T exm981860 12 8759543 [T/C] NM_020661 AICDA EXON Missense_R25H exm981871 12 8800767 [A/G] NM_003480 MFAP5 EXON Missense_P148S exm981880 12 8804269 [T/A] NM_003480 MFAP5 EXON Missense_N79I exm981904 12 8902470 [A/G] NM_020734 RIMKLB EXON Missense_N63S exm1787566 12 8906513 [A/G] NM_020734 RIMKLB EXON Missense_K174R exm2251239 12 8926119 [A/G] NM_020734 RIMKLB EXON Synonymous_A300A exm981928 12 8926159 [T/C] NM_020734 RIMKLB EXON Missense_R314W exm981943 12 8975310 [A/G] NM_144670 A2ML1 Silent exm981946 12 8975801 [A/C] NM_144670 A2ML1 EXON Missense_A29D exm981950 12 8975873 [C/G] NM_144670 A2ML1 EXON Missense_T53R exm981953 12 8975915 [T/A] NM_144670 A2ML1 EXON Missense_E67V exm981954 12 8975936 [C/G] NM_144670 A2ML1 EXON Missense_R74T exm2260138 12 8976780 [T/C] NM_144670 A2ML1 Silent exm981967 12 8987265 [T/C] NM_144670 A2ML1 EXON Missense_M157T exm981975 12 8988209 [T/C] NM_144670 A2ML1 EXON Missense_T197I exm981977 12 8988238 [C/G] NM_144670 A2ML1 EXON Missense_G207R exm981981 12 8988899 [T/C] NM_144670 A2ML1 EXON Missense_T231M exm981983 12 8988919 [A/G] NM_144670 A2ML1 EXON Missense_V238I exm981986 12 8990121 [T/C] NM_144670 A2ML1 EXON Missense_R272W exm981993 12 8990937 [A/C] NM_144670 A2ML1 EXON Missense_D287E exm981994 12 8990939 [A/G] NM_144670 A2ML1 EXON Missense_K288R exm981995 12 8990963 [T/C] NM_144670 A2ML1 EXON Missense_V296A exm982006 12 8993993 [T/C] NM_144670 A2ML1 EXON Missense_F370S exm982011 12 8994121 [A/G] NM_144670 A2ML1 EXON Missense_V413I exm1787675 12 8995809 [A/G] NM_144670 A2ML1 EXON Missense_R443Q exm982023 12 8995914 [T/C] NM_144670 A2ML1 EXON Missense_P478L exm-IND12-8887191 12 8995925 [D/I] NM_144670 A2ML1 EXON exm982030 12 8998038 [T/C] NM_144670,NR_046256 A2ML1,A2ML1 EXON Synonymous_L493L,Silent exm982039 12 9000206 [A/G] NM_144670,NR_046256 A2ML1,A2ML1 EXON Missense_Q582R,Silent exm2276228 12 9000236 [A/G] NM_144670,NR_046256 A2ML1,A2ML1 EXON Missense_R592Q,Silent exm982042 12 9000241 [A/G] NM_144670,NR_046256 A2ML1,A2ML1 EXON Missense_V594M,Silent exm982050 12 9001419 [T/C] NM_144670,NR_046256 A2ML1,A2ML1 EXON Missense_I646T,Silent exm982056 12 9001508 [T/C] NM_144670,NR_046256 A2ML1,A2ML1 EXON Missense_R676W,Silent exm982057 12 9001509 [A/G] NM_144670,NR_046256 A2ML1,A2ML1 EXON Missense_R676Q,Silent exm982060 12 9002268 [T/G] NM_144670,NR_046256 A2ML1,A2ML1 EXON Missense_V678L,Silent exm982067 12 9002754 [A/C] NM_144670,NR_046256 A2ML1,A2ML1 Silent,Silent exm982069 12 9002809 [A/G] NM_144670,NR_046256 A2ML1,A2ML1 EXON Missense_E725K,Silent exm982071 12 9002833 [T/C] NM_144670,NR_046256 A2ML1,A2ML1 EXON Missense_F733L,Silent exm982076 12 9004388 [A/G] NM_144670,NR_046256 A2ML1,A2ML1 EXON Missense_G748E,Silent exm982077 12 9004394 [A/C] NM_144670,NR_046256 A2ML1,A2ML1 EXON Missense_E750A,Silent exm982079 12 9004397 [T/C] NM_144670,NR_046256 A2ML1,A2ML1 EXON Missense_A751V,Silent exm982090 12 9004550 [A/G] NM_144670,NR_046256 A2ML1,A2ML1 EXON Missense_R802H,Silent exm982093 12 9004806 [A/G] NM_144670,NR_046256 A2ML1,A2ML1 EXON Missense_V822I,Silent exm982097 12 9004892 [A/C] NM_144670,NR_046256 A2ML1,A2ML1 EXON Missense_D850E,Silent exm982098 12 9004902 [T/C] NM_144670,NR_046256 A2ML1,A2ML1 EXON Missense_H854Y,Silent exm982101 12 9006810 [T/C] NM_144670,NR_046256 A2ML1,A2ML1 EXON Nonsense_R893X,Silent exm2251244 12 9007412 [T/C] NM_144670,NR_046256 A2ML1,A2ML1 EXON Synonymous_L917L,Silent exm982108 12 9008113 [A/G] NM_144670,NR_046256 A2ML1,A2ML1 EXON Missense_A925T,Silent exm982110 12 9008180 [T/C] NM_144670,NR_046256 A2ML1,A2ML1 EXON Missense_T947M,Silent exm982113 12 9009820 [A/G] NM_144670,NR_046256 A2ML1,A2ML1 EXON Missense_C970Y,Silent exm982114 12 9009835 [T/C] NM_144670,NR_046256 A2ML1,A2ML1 EXON Missense_M975T,Silent exm2251245 12 9010671 [A/G] NM_144670,NR_046256 A2ML1,A2ML1 EXON Synonymous_V1079V,Silent exm982130 12 9013481 [A/G] NM_144670,NR_046256 A2ML1,A2ML1 EXON Missense_G1090D,Silent exm982131 12 9013484 [T/C] NM_144670,NR_046256 A2ML1,A2ML1 EXON Missense_V1091A,Silent exm982136 12 9013737 [A/G] NM_144670,NR_046256 A2ML1,A2ML1 EXON Missense_M1116V,Silent exm982137 12 9013755 [T/C] NM_144670,NR_046256 A2ML1,A2ML1 EXON Missense_R1122W,Silent exm982138 12 9013771 [T/C] NM_144670,NR_046256 A2ML1,A2ML1 EXON Missense_S1127L,Silent exm982140 12 9013783 [T/C] NM_144670,NR_046256 A2ML1,A2ML1 EXON Missense_T1131M,Silent exm982141 12 9013786 [T/C] NM_144670,NR_046256 A2ML1,A2ML1 EXON Missense_T1132I,Silent exm982145 12 9016437 [A/T] NM_144670,NR_046256 A2ML1,A2ML1 EXON Missense_S1184C,Silent exm982146 12 9016456 [T/C] NM_144670,NR_046256 A2ML1,A2ML1 EXON Missense_A1190V,Silent exm982152 12 9016573 [A/G] NM_144670,NR_046256 A2ML1,A2ML1 EXON Missense_H1229R,Silent exm982156 12 9020489 [A/G] NM_144670,NR_046256 A2ML1,A2ML1 EXON Missense_M1257V,Silent exm982157 12 9020509 [C/G] NM_144670,NR_046256 A2ML1,A2ML1 EXON Missense_N1263K,Silent exm982158 12 9020539 [C/G] NM_144670,NR_046256 A2ML1,A2ML1 EXON Missense_Q1273H,Silent exm982159 12 9020541 [A/G] NM_144670,NR_046256 A2ML1,A2ML1 EXON Missense_R1274H,Silent exm982162 12 9020589 [A/C] NM_144670,NR_046256 A2ML1,A2ML1 EXON Missense_T1290N,Silent exm982163 12 9020598 [A/G] NM_144670,NR_046256 A2ML1,A2ML1 EXON Missense_N1293S,Silent exm982164 12 9020600 [A/G] NM_144670,NR_046256 A2ML1,A2ML1 EXON Missense_V1294I,Silent exm982171 12 9020859 [A/C] NM_144670,NR_046256 A2ML1,A2ML1 EXON Missense_N1323H,Silent exm982177 12 9020954 [A/G] NM_144670,NR_046256 A2ML1,A2ML1 Silent,Silent exm1787771 12 9021205 [A/G] NM_144670,NR_046256 A2ML1,A2ML1 EXON Missense_M1378I,Silent exm982186 12 9027033 [A/G] NM_144670,NR_046256 A2ML1,A2ML1 EXON Missense_T1412A,Silent exm2251246 12 9029578 [A/G] exm982204 12 9072380 [A/G] NM_004426 PHC1 EXON Missense_N48S exm982223 12 9075376 [C/G] NM_004426 PHC1 EXON Missense_A202P exm-rs4883201 12 9082581 [A/G] NM_004426 PHC1 Silent exm982274 12 9086594 [A/G] NM_004426 PHC1 EXON Missense_K676R exm982290 12 9087807 [T/C] NM_004426 PHC1 EXON Missense_P781S exm982331 12 9098070 [G/C] NM_001207024,NM_002355 M6PR,M6PR EXON Missense_S96T,Missense_S96T exm2221238 12 9098076 [T/C] NM_001207024,NM_002355 M6PR,M6PR EXON Missense_N94S,Missense_N94S exm1787868 12 9098149 [T/C] NM_001207024,NM_002355 M6PR,M6PR EXON Missense_T70A,Missense_T70A exm982348 12 9142305 [A/G] NM_005810 KLRG1 EXON Missense_Q25R exm982350 12 9144811 [C/G] NM_005810 KLRG1 EXON Missense_S31C exm982353 12 9144883 [T/C] NM_005810 KLRG1 EXON Missense_L55P exm1787918 12 9144906 [A/G] NM_005810 KLRG1 EXON Missense_G63S exm982358 12 9147759 [T/C] NM_005810 KLRG1 EXON Missense_R78C exm982378 12 9222373 [T/G] NM_000014 A2M EXON Missense_S1411R exm982380 12 9222385 [A/G] NM_000014 A2M EXON Missense_R1407W exm982389 12 9227196 [A/G] NM_000014 A2M EXON Missense_T1239M exm982395 12 9229390 [T/C] NM_000014 A2M EXON Missense_E1165G exm982400 12 9229986 [T/C] NM_000014 A2M EXON Missense_A1103T exm982401 12 9230013 [T/C] NM_000014 A2M EXON Missense_G1094R exm982406 12 9231867 [T/C] NM_000014 A2M EXON Missense_R1031Q exm982408 12 9232268 [T/C] NM_000014 A2M EXON Missense_I1000V exm982409 12 9232288 [A/G] NM_000014 A2M EXON Missense_T993I exm982411 12 9232325 [A/C] NM_000014 A2M EXON Missense_A981S exm982416 12 9232732 [T/C] NM_000014 A2M EXON Missense_N938D exm982417 12 9232743 [T/A] NM_000014 A2M EXON Missense_K934I exm982429 12 9243017 [A/G] NM_000014 A2M EXON Missense_A844V exm2221241 12 9243846 [A/G] NM_000014 A2M EXON Missense_A807V exm982446 12 9248214 [T/C] NM_000014 A2M EXON Missense_R645H exm982447 12 9248233 [T/C] NM_000014 A2M EXON Missense_N639D exm1788028 12 9251297 [T/C] NM_000014 A2M EXON Missense_R586Q exm982460 12 9252023 [A/G] NM_000014 A2M EXON Missense_I552T exm982461 12 9252066 [T/C] NM_000014 A2M EXON Missense_A538T exm982463 12 9252098 [A/G] NM_000014 A2M EXON Missense_S527L exm982470 12 9254153 [T/C] NM_000014 A2M EXON Missense_E462K exm982479 12 9254254 [T/C] NM_000014 A2M EXON Missense_R428H exm982486 12 9256972 [T/C] NM_000014 A2M EXON Missense_V377I exm982488 12 9258834 [C/G] NM_000014 A2M EXON Missense_Q368E exm982490 12 9258857 [T/C] NM_000014 A2M EXON Missense_R360Q exm982491 12 9258863 [T/C] NM_000014 A2M EXON Missense_H358R exm982497 12 9260170 [T/C] NM_000014 A2M EXON Missense_D277N exm982499 12 9260217 [A/G] NM_000014 A2M EXON Missense_P261L exm2221242 12 9261927 [T/C] NM_000014 A2M EXON Missense_V250M exm982507 12 9264759 [T/A] NM_000014 A2M EXON Missense_E160V exm982510 12 9264798 [T/C] NM_000014 A2M EXON Missense_R147H exm982518 12 9265099 [A/G] NM_000014 A2M EXON Missense_F102L exm1788065 12 9266056 [A/G] NM_000014 A2M EXON Missense_T57I exm982529 12 9268393 [A/C] NM_000014 A2M EXON Missense_L18R exm2274559 12 9301572 [A/G] NM_002864 PZP EXON Missense_V1482A exm982540 12 9303269 [A/G] NM_002864 PZP EXON Missense_I1452T exm982542 12 9303296 [T/A] NM_002864 PZP EXON Missense_I1443N exm982550 12 9304243 [T/C] NM_002864 PZP EXON Missense_R1413Q exm2251256 12 9305473 [T/C] NM_002864 PZP EXON Synonymous_Q1356Q exm982568 12 9305822 [T/C] NM_002864 PZP EXON Missense_V1298I exm982579 12 9307283 [T/C] NM_002864 PZP EXON Missense_T1235A exm2274560 12 9307387 [C/G] NM_002864 PZP EXON Missense_G1200A exm982584 12 9307415 [A/G] NM_002864 PZP EXON Missense_R1191C exm982589 12 9309819 [A/G] NM_002864 PZP EXON Nonsense_Q1168X exm982592 12 9309881 [T/C] NM_002864 PZP EXON Missense_G1147E exm982599 12 9310418 [A/G] NM_002864 PZP EXON Missense_A1105V exm982612 12 9312951 [A/G] NM_002864 PZP EXON Missense_T1003M exm982615 12 9313054 [A/G] NM_002864 PZP EXON Nonsense_Q969X exm982616 12 9313064 [T/C] NM_002864 PZP EXON Missense_M965I exm982625 12 9316753 [A/G] NM_002864 PZP EXON Missense_W864R exm982626 12 9316773 [T/C] NM_002864 PZP EXON Missense_N857S exm2274561 12 9316788 [A/T] NM_002864 PZP EXON Missense_Y852F exm982630 12 9317737 [A/G] NM_002864 PZP EXON Missense_R829W exm982644 12 9317959 [A/C] NM_002864 PZP EXON Missense_S755A exm982648 12 9318662 [C/G] NM_002864 PZP EXON Missense_E748D exm982651 12 9318694 [A/G] NM_002864 PZP EXON Nonsense_R738X exm982653 12 9318699 [A/G] NM_002864 PZP EXON Missense_T736M exm982656 12 9321501 [T/C] NM_002864 PZP EXON Missense_V691M exm982660 12 9321534 [A/G] NM_002864 PZP EXON Nonsense_R680X exm982665 12 9333626 [A/G] NM_002864 PZP EXON Nonsense_Q598X exm982667 12 9333658 [A/G] NM_002864 PZP EXON Missense_P587L exm1788229 12 9334698 [A/G] NM_002864 PZP EXON Missense_A521V exm982683 12 9344824 [G/C] NM_002864 PZP EXON Missense_S504C exm982688 12 9345121 [A/C] NM_002864 PZP EXON Missense_S490I exm982695 12 9345229 [T/G] NM_002864 PZP EXON Missense_Y454S exm982703 12 9346789 [A/T] NM_002864 PZP EXON Missense_F380I exm982704 12 9346792 [G/C] NM_002864 PZP EXON Missense_L379V exm982710 12 9349165 [A/G] NM_002864 PZP Silent exm2251258 12 9349710 [A/G] NM_002864 PZP EXON Synonymous_Y255Y exm982716 12 9349714 [A/G] NM_002864 PZP EXON Missense_T254I exm982723 12 9352978 [T/C] NM_002864 PZP EXON Missense_N246S exm982734 12 9353641 [A/G] NM_002864 PZP EXON Nonsense_R173X exm1788267 12 9353933 [A/G] NM_002864 PZP EXON Missense_I164T exm982744 12 9355159 [A/C] NM_002864 PZP EXON Missense_V130G exm982747 12 9355219 [A/G] NM_002864 PZP EXON Missense_T110M exm982753 12 9356398 [A/G] NM_002864 PZP EXON Missense_A78V exm982760 12 9360854 [T/C] NM_002864 PZP Silent exm982762 12 9360927 [T/C] NM_002864 PZP EXON Missense_D4G exm982764 12 9360933 [T/C] NM_002864 PZP EXON Missense_R2Q exm-rs6487679 12 9371332 [T/C] exm2267319 12 9500499 [A/G] exm2267414 12 9739449 [A/G] exm982884 12 9750669 [A/G] NM_002258 KLRB1 EXON Missense_I168T exm982890 12 9751127 [T/C] NM_002258 KLRB1 EXON Missense_S128G exm982892 12 9751202 [T/C] NM_002258 KLRB1 EXON Missense_E103K exm982894 12 9751231 [T/C] NM_002258 KLRB1 EXON Missense_N93S exm982901 12 9752422 [T/C] NM_002258 KLRB1 EXON Missense_Q67R exm982902 12 9752424 [T/C] NM_002258 KLRB1 EXON Missense_I66M exm982920 12 9822387 [C/G] NM_001197319,NM_001197317,NM_001004419,NM_013269,NM_001197318,NR_036693 CLEC2D,CLEC2D,CLEC2D,CLEC2D,CLEC2D,CLEC2D EXON Missense_N19K,Missense_N19K,Missense_N19K,Missense_N19K,Missense_N19K,Silent exm982922 12 9833524 [C/G] NM_001197319,NM_001197317,NM_001004419,NM_013269,NM_001197318,NR_036693 CLEC2D,CLEC2D,CLEC2D,CLEC2D,CLEC2D,CLEC2D EXON Silent,Silent,Missense_L23V,Missense_L23V,Missense_L23V,Silent exm982927 12 9833628 [T/C] NM_001197319,NM_001197317,NM_001004419,NM_013269,NM_001197318,NR_036693 CLEC2D,CLEC2D,CLEC2D,CLEC2D,CLEC2D,CLEC2D EXON Silent,Silent,Synonymous_S57S,Synonymous_S57S,Synonymous_S57S,Silent exm982931 12 9840627 [A/G] NM_001197319,NM_001197317,NM_001004419,NM_013269,NM_001197318,NR_036693 CLEC2D,CLEC2D,CLEC2D,CLEC2D,CLEC2D,CLEC2D EXON Missense_R64K,Missense_R64K,Missense_R101K,Missense_R101K,Missense_R101K,Silent exm982933 12 9840650 [A/G] NM_001197319,NM_001197317,NM_001004419,NM_013269,NM_001197318,NR_036693 CLEC2D,CLEC2D,CLEC2D,CLEC2D,CLEC2D,CLEC2D EXON Missense_D72N,Missense_D72N,Missense_D109N,Missense_D109N,Missense_D109N,Silent exm982939 12 9845689 [A/G] NM_001197319,NM_001197317,NM_001004419,NM_013269,NM_001197318,NR_036693 CLEC2D,CLEC2D,CLEC2D,CLEC2D,CLEC2D,CLEC2D EXON Silent,Silent,Missense_R174Q,Silent,Silent,Silent exm982941 12 9845709 [A/G] NM_001197319,NM_001197317,NM_001004419,NM_013269,NM_001197318,NR_036693 CLEC2D,CLEC2D,CLEC2D,CLEC2D,CLEC2D,CLEC2D EXON Silent,Silent,Missense_M181V,Silent,Silent,Silent exm982942 12 9847364 [T/C] NM_001197319,NM_001197317,NM_001004419,NM_013269,NM_001197318,NR_036693 CLEC2D,CLEC2D,CLEC2D,CLEC2D,CLEC2D,CLEC2D EXON Synonymous_Y85Y,Missense_I120T,Synonymous_Y184Y,Missense_I157T,Synonymous_Y122Y,Silent exm982944 12 9847448 [T/C] NM_001197319,NM_001197317,NM_001004419,NM_013269,NM_001197318,NR_036693 CLEC2D,CLEC2D,CLEC2D,CLEC2D,CLEC2D,CLEC2D EXON Silent,Missense_S148F,Silent,Missense_S185F,Silent,Silent exm982946 12 9847463 [A/G] NM_001197319,NM_001197317,NM_001004419,NM_013269,NM_001197318,NR_036693 CLEC2D,CLEC2D,CLEC2D,CLEC2D,CLEC2D,CLEC2D EXON Silent,Missense_H153R,Silent,Missense_H190R,Silent,Silent exm-rs11052552 12 9855958 [T/G] exm982949 12 9875226 [A/T] NM_001253750,NM_001267701,NM_172004 CLECL1,CLECL1,CLECL1 EXON Silent,Silent,Missense_I167N exm982952 12 9875323 [T/C] NM_001253750,NM_001267701,NM_172004 CLECL1,CLECL1,CLECL1 EXON Missense_T135A,Missense_T135A,Missense_T135A exm982953 12 9875338 [A/G] NM_001253750,NM_001267701,NM_172004 CLECL1,CLECL1,CLECL1 EXON Missense_Y130H,Missense_Y130H,Missense_Y130H exm982956 12 9875356 [A/C] NM_001253750,NM_001267701,NM_172004 CLECL1,CLECL1,CLECL1 EXON Missense_V124L,Missense_V124L,Missense_V124L exm1789189 12 9885556 [A/G] NM_001253750,NM_001267701,NM_172004 CLECL1,CLECL1,CLECL1 EXON Missense_L102P,Missense_L102P,Missense_L102P exm982962 12 9885578 [A/G] NM_001253750,NM_001267701,NM_172004 CLECL1,CLECL1,CLECL1 EXON Missense_P95S,Missense_P95S,Missense_P95S exm982967 12 9885659 [A/G] NM_001253750,NM_001267701,NM_172004 CLECL1,CLECL1,CLECL1 EXON Missense_F68L,Missense_F68L,Missense_F68L exm982969 12 9885682 [T/C] NM_001253750,NM_001267701,NM_172004 CLECL1,CLECL1,CLECL1 EXON Missense_D60G,Missense_D60G,Missense_D60G exm982973 12 9885713 [T/A] NM_001253750,NM_001267701,NM_172004 CLECL1,CLECL1,CLECL1 EXON Missense_Y50N,Missense_Y50N,Missense_Y50N exm982978 12 9885840 [T/A] NM_001253750,NM_001267701,NM_172004 CLECL1,CLECL1,CLECL1 EXON Missense_H7Q,Missense_H7Q,Missense_H7Q exm982979 12 9885846 [T/G] NM_001253750,NM_001267701,NM_172004 CLECL1,CLECL1,CLECL1 EXON Missense_F5L,Missense_F5L,Missense_F5L exm2251277 12 9906179 [A/G] NM_001781 CD69 EXON Synonymous_N166N exm982989 12 9907223 [G/C] NM_001781 CD69 EXON Missense_H151D exm982990 12 9907268 [T/C] NM_001781 CD69 EXON Missense_A136T exm982992 12 9907773 [T/C] NM_001781 CD69 EXON Missense_G91D exm982998 12 9908916 [A/G] NM_001781 CD69 EXON Missense_I55T exm2221297 12 9908986 [A/G] NM_001781 CD69 EXON Missense_R32C exm-rs4763879 12 9910164 [A/G] NM_001781 CD69 Silent exm983016 12 9984965 [A/G] NM_016523 KLRF1 EXON Missense_V47M exm983017 12 9985915 [T/G] NM_016523 KLRF1 EXON Missense_L67F exm983019 12 9985982 [A/G] NM_016523 KLRF1 EXON Missense_N90D exm983023 12 9986018 [A/C] NM_016523 KLRF1 EXON Missense_L102I exm2274562 12 10007062 [A/G] NM_005127 CLEC2B EXON Missense_C87R exm983067 12 10010216 [T/G] NM_005127 CLEC2B EXON Missense_Q32K exm983071 12 10041364 [A/G] NM_001190765 KLRF2 EXON Missense_V68I exm983072 12 10046052 [A/C] NM_001190765 KLRF2 EXON Missense_P131T exm983081 12 10066199 [T/C] NM_001130711 CLEC2A EXON Missense_K164R exm983082 12 10066205 [A/T] NM_001130711 CLEC2A EXON Missense_D162V exm983086 12 10069302 [T/C] NM_001130711 CLEC2A EXON Missense_G136D exm983089 12 10069326 [T/C] NM_001130711 CLEC2A EXON Nonsense_W128X exm983092 12 10074754 [A/G] NM_001130711 CLEC2A EXON Missense_S73P exm983102 12 10124197 [T/C] NM_001207010,NM_201623,NM_138337 CLEC12A,CLEC12A,CLEC12A EXON Missense_M11T,Missense_M1T,Missense_M1T exm983104 12 10124222 [T/G] NM_001207010,NM_201623,NM_138337 CLEC12A,CLEC12A,CLEC12A EXON Missense_D19E,Missense_D9E,Missense_D9E exm983105 12 10124256 [A/G] NM_001207010,NM_201623,NM_138337 CLEC12A,CLEC12A,CLEC12A EXON Missense_I31V,Missense_I21V,Missense_I21V exm983107 12 10124287 [A/G] NM_001207010,NM_201623,NM_138337 CLEC12A,CLEC12A,CLEC12A Silent,Silent,Silent exm983110 12 10131591 [T/C] NM_001207010,NM_201623,NM_138337 CLEC12A,CLEC12A,CLEC12A EXON Missense_R50C,Silent,Missense_R40C exm983113 12 10131655 [T/C] NM_001207010,NM_201623,NM_138337 CLEC12A,CLEC12A,CLEC12A EXON Missense_A71V,Silent,Missense_A61V exm983125 12 10133198 [T/C] NM_001207010,NM_201623,NM_138337 CLEC12A,CLEC12A,CLEC12A EXON Missense_C143R,Missense_C100R,Missense_C133R exm983126 12 10133235 [A/G] NM_001207010,NM_201623,NM_138337 CLEC12A,CLEC12A,CLEC12A EXON Missense_Y155C,Missense_Y112C,Missense_Y145C exm983136 12 10137557 [A/C] NM_001207010,NM_201623,NM_138337 CLEC12A,CLEC12A,CLEC12A EXON Missense_K254Q,Missense_K211Q,Missense_K244Q exm983150 12 10147775 [G/C] NM_016509,NM_001099431 CLEC1B,CLEC1B EXON Missense_W170S,Missense_W137S exm983152 12 10147782 [T/C] NM_016509,NM_001099431 CLEC1B,CLEC1B EXON Missense_E168K,Missense_E135K exm983157 12 10147836 [T/C] NM_016509,NM_001099431 CLEC1B,CLEC1B EXON Missense_K150E,Missense_K117E exm1749891 12 10149789 [T/C] NM_016509,NM_001099431 CLEC1B,CLEC1B EXON Missense_V85I,Missense_V52I exm983167 12 10149792 [G/C] NM_016509,NM_001099431 CLEC1B,CLEC1B EXON Missense_V84L,Missense_V51L exm983169 12 10149806 [T/C] NM_016509,NM_001099431 CLEC1B,CLEC1B EXON Missense_R79H,Missense_R46H exm983171 12 10149851 [T/C] NM_016509,NM_001099431 CLEC1B,CLEC1B EXON Missense_G64D,Missense_G31D exm983175 12 10150916 [A/C] NM_016509,NM_001099431 CLEC1B,CLEC1B EXON Missense_G43V,Silent exm983179 12 10150961 [A/G] NM_016509,NM_001099431 CLEC1B,CLEC1B EXON Missense_S28F,Silent exm983183 12 10150974 [A/G] NM_016509,NM_001099431 CLEC1B,CLEC1B EXON Missense_S24P,Silent exm983186 12 10151642 [T/C] NM_016509,NM_001099431 CLEC1B,CLEC1B EXON Missense_I20V,Missense_I20V exm983191 12 10163375 [A/C] NM_205852,NM_001129998 CLEC12B,CLEC12B EXON Missense_T6N,Missense_T6N exm983194 12 10163381 [T/C] NM_205852,NM_001129998 CLEC12B,CLEC12B EXON Missense_A8V,Missense_A8V exm983195 12 10163422 [T/C] NM_205852,NM_001129998 CLEC12B,CLEC12B EXON Nonsense_R22X,Nonsense_R22X exm983197 12 10163451 [T/C] NM_205852,NM_001129998 CLEC12B,CLEC12B Silent,Silent exm983203 12 10165456 [T/C] NM_205852,NM_001129998 CLEC12B,CLEC12B EXON Missense_I55T,Missense_I55T exm1749978 12 10167130 [A/G] NM_205852,NM_001129998 CLEC12B,CLEC12B EXON Missense_I67V,Missense_I67V exm983211 12 10167277 [G/C] NM_205852,NM_001129998 CLEC12B,CLEC12B EXON Missense_V116L,Missense_V116L exm983216 12 10167859 [T/G] NM_205852,NM_001129998 CLEC12B,CLEC12B EXON Missense_C140G,Missense_C140G exm983218 12 10167986 [T/C] NM_205852,NM_001129998 CLEC12B,CLEC12B EXON Missense_I182T,Missense_I182T exm983228 12 10171039 [A/G] NM_001129998 CLEC12B EXON Missense_E264K exm983237 12 10205332 [A/G] NM_207345 CLEC9A EXON Missense_A16T exm2274563 12 10206944 [A/G] NM_207345 CLEC9A EXON Missense_V56I exm983240 12 10206951 [A/G] NM_207345 CLEC9A Silent exm983254 12 10215654 [C/G] NM_207345 CLEC9A EXON Missense_A107G exm983256 12 10215713 [T/G] NM_207345 CLEC9A EXON Missense_V127F exm983269 12 10217412 [T/C] NM_207345 CLEC9A EXON Missense_R185C exm983272 12 10218109 [G/C] NM_207345 CLEC9A EXON Missense_E202Q exm2219737 12 10218113 [G/C] NM_207345 CLEC9A EXON Missense_R203T exm983273 12 10218115 [T/C] NM_207345 CLEC9A EXON Missense_S204P exm983276 12 10218218 [A/G] NM_207345 CLEC9A EXON Missense_R238K exm983280 12 10223961 [A/G] NM_016511 CLEC1A EXON Missense_P272S exm983285 12 10224073 [T/G] NM_016511 CLEC1A EXON Missense_R234S exm983290 12 10225935 [T/C] NM_016511 CLEC1A EXON Missense_K207E exm983297 12 10226000 [A/G] NM_016511 CLEC1A EXON Missense_A185V exm983301 12 10228165 [A/T] NM_016511 CLEC1A EXON Missense_C161S exm-rs7972187 12 10244654 [T/C] NM_016511 CLEC1A Silent exm983328 12 10271087 [A/C] NM_022570,NM_197947,NM_197948,NM_197949,NM_197950 CLEC7A,CLEC7A,CLEC7A,CLEC7A,CLEC7A EXON Nonsense_Y192X,Nonsense_Y238X,Silent,Silent,Nonsense_Y159X exm983338 12 10275908 [A/G] NM_022570,NM_197947,NM_197948,NM_197949,NM_197950 CLEC7A,CLEC7A,CLEC7A,CLEC7A,CLEC7A EXON Missense_L137F,Missense_L183F,Silent,Silent,Missense_L104F exm983342 12 10277906 [A/G] NM_022570,NM_197947,NM_197948,NM_197949,NM_197950 CLEC7A,CLEC7A,CLEC7A,CLEC7A,CLEC7A EXON Missense_S115L,Missense_S161L,Missense_S161L,Missense_S115L,Missense_S82L exm983343 12 10277915 [A/G] NM_022570,NM_197947,NM_197948,NM_197949,NM_197950 CLEC7A,CLEC7A,CLEC7A,CLEC7A,CLEC7A EXON Missense_I112T,Missense_I158T,Missense_I158T,Missense_I112T,Missense_I79T exm983348 12 10277981 [A/C] NM_022570,NM_197947,NM_197948,NM_197949,NM_197950 CLEC7A,CLEC7A,CLEC7A,CLEC7A,CLEC7A EXON Missense_M90R,Missense_M136R,Missense_M136R,Missense_M90R,Missense_M57R exm983357 12 10279261 [T/G] NM_022570,NM_197947,NM_197948,NM_197949,NM_197950 CLEC7A,CLEC7A,CLEC7A,CLEC7A,CLEC7A EXON Silent,Nonsense_Y83X,Nonsense_Y83X,Silent,Silent exm983370 12 10280418 [A/G] NM_022570,NM_197947,NM_197948,NM_197949,NM_197950,NM_197954 CLEC7A,CLEC7A,CLEC7A,CLEC7A,CLEC7A,CLEC7A EXON Missense_R44C,Missense_R44C,Missense_R44C,Missense_R44C,Silent,Missense_R44C exm983373 12 10282578 [A/C] NM_022570,NM_197947,NM_197948,NM_197949,NM_197950,NM_197954 CLEC7A,CLEC7A,CLEC7A,CLEC7A,CLEC7A,CLEC7A Silent,Silent,Silent,Silent,Silent,Silent exm983394 12 10313448 [G/C] NM_002543,NM_001172633,NM_001172632 OLR1,OLR1,OLR1 EXON Missense_K167N,Missense_K167N,Silent exm983413 12 10332192 [T/G] NM_153022 TMEM52B EXON Missense_M1I exm983414 12 10332197 [T/G] NM_153022 TMEM52B EXON Missense_W3L exm983415 12 10332198 [T/G] NM_153022 TMEM52B EXON Missense_W3C exm983425 12 10339095 [T/C] NM_153022 TMEM52B EXON Missense_R52C exm983429 12 10339126 [A/C] NM_153022 TMEM52B EXON Missense_P62Q exm983435 12 10339187 [A/G] NM_153022 TMEM52B EXON Synonymous_T82T exm1750553 12 10342639 [T/C] NM_153022 TMEM52B EXON Missense_M131T exm2275389 12 10342716 [T/C] NM_153022 TMEM52B EXON Nonsense_R157X exm983445 12 10342725 [A/G] NM_153022 TMEM52B EXON Missense_D160N exm983446 12 10342736 [A/C] NM_153022 TMEM52B EXON Missense_N163K exm2250541 12 10364362 [T/C] exm2264488 12 10415847 [A/C] exm983469 12 10462052 [T/G] NM_001114396,NM_007334,NM_002262 KLRD1,KLRD1,KLRD1 EXON Missense_S25A,Silent,Missense_S25A exm983475 12 10462267 [T/C] NM_001114396,NM_007334,NM_002262 KLRD1,KLRD1,KLRD1 EXON Missense_P48L,Missense_P17L,Missense_P48L exm2274564 12 10464104 [T/C] NM_001114396,NM_007334,NM_002262 KLRD1,KLRD1,KLRD1 EXON Missense_R69W,Missense_R38W,Missense_R69W exm983486 12 10467309 [A/G] NM_001114396,NM_007334,NM_002262 KLRD1,KLRD1,KLRD1 EXON Missense_I153V,Missense_I122V,Missense_I153V exm983513 12 10532326 [T/C] NM_007360,NM_001199805 KLRK1,KLRC4-KLRK1 EXON Missense_T72A,Missense_T72A exm983519 12 10539556 [T/C] NM_007360,NM_001199805 KLRK1,KLRC4-KLRK1 EXON Missense_T32A,Missense_T32A exm983520 12 10539574 [A/T] NM_007360,NM_001199805 KLRK1,KLRC4-KLRK1 EXON Nonsense_K26X,Nonsense_K26X exm983523 12 10541391 [A/G] NM_007360,NM_001199805 KLRK1,KLRC4-KLRK1 EXON Missense_R7W,Missense_R7W exm983533 12 10560323 [T/C] NM_001199805,NM_013431 KLRC4-KLRK1,KLRC4 EXON Silent,Missense_K136E exm983535 12 10560377 [T/C] NM_001199805,NM_013431 KLRC4-KLRK1,KLRC4 EXON Silent,Missense_G118S exm983536 12 10560385 [T/C] NM_001199805,NM_013431 KLRC4-KLRK1,KLRC4 EXON Silent,Missense_R115H exm983537 12 10560957 [T/C] NM_001199805,NM_013431 KLRC4-KLRK1,KLRC4 EXON Silent,Missense_N104S exm983546 12 10568250 [A/T] NM_002261,NM_007333 KLRC3,KLRC3 EXON Silent,Missense_K244I exm983547 12 10568251 [A/T] NM_002261,NM_007333 KLRC3,KLRC3 EXON Silent,Nonsense_K244X exm983549 12 10568253 [A/T] NM_002261,NM_007333 KLRC3,KLRC3 EXON Silent,Missense_I243K exm983558 12 10568395 [T/C] NM_002261,NM_007333 KLRC3,KLRC3 Silent,Silent exm983560 12 10569265 [A/C] NM_002261,NM_007333 KLRC3,KLRC3 Silent,Silent exm983567 12 10570965 [C/G] NM_002261,NM_007333 KLRC3,KLRC3 EXON Missense_C155S,Missense_C155S exm983642 12 10599160 [T/C] NM_213658,NM_002259,NM_213657,NM_007328 KLRC1,KLRC1,KLRC1,KLRC1 EXON Missense_H231R,Missense_H231R,Missense_H213R,Missense_H213R exm983661 12 10603082 [C/G] NM_213658,NM_002259,NM_213657,NM_007328 KLRC1,KLRC1,KLRC1,KLRC1 Silent,Silent,Silent,Silent exm983664 12 10603175 [A/C] NM_213658,NM_002259,NM_213657,NM_007328 KLRC1,KLRC1,KLRC1,KLRC1 EXON Nonsense_L64X,Nonsense_L64X,Nonsense_L64X,Nonsense_L64X exm983665 12 10603634 [A/G] NM_213658,NM_002259,NM_213657,NM_007328 KLRC1,KLRC1,KLRC1,KLRC1 EXON Missense_A41V,Missense_A41V,Missense_A41V,Missense_A41V exm983667 12 10603670 [T/C] NM_213658,NM_002259,NM_213657,NM_007328 KLRC1,KLRC1,KLRC1,KLRC1 EXON Missense_N29S,Missense_N29S,Missense_N29S,Missense_N29S exm983668 12 10603749 [T/G] NM_213658,NM_002259,NM_213657,NM_007328 KLRC1,KLRC1,KLRC1,KLRC1 EXON Missense_N3H,Missense_N3H,Missense_N3H,Missense_N3H exm983715 12 10766118 [T/C] NM_018048 MAGOHB EXON Missense_S5N exm983719 12 10772824 [T/C] NM_018423 STYK1 EXON Synonymous_P396P exm2250560 12 10772824 [T/C] NM_018423 STYK1 EXON Synonymous_P396P exm983720 12 10772825 [A/G] NM_018423 STYK1 EXON Missense_P396L exm983722 12 10772849 [T/C] NM_018423 STYK1 EXON Missense_D388G exm983723 12 10772876 [T/C] NM_018423 STYK1 EXON Missense_R379H exm983724 12 10772877 [A/G] NM_018423 STYK1 EXON Missense_R379C exm983726 12 10772940 [T/C] NM_018423 STYK1 EXON Missense_I358V exm1751738 12 10782093 [T/C] NM_018423 STYK1 EXON Missense_R211Q exm983773 12 10783830 [T/C] NM_018423 STYK1 EXON Missense_E89K exm983776 12 10783884 [T/C] NM_018423 STYK1 EXON Missense_R71G exm983777 12 10783893 [A/G] NM_018423 STYK1 EXON Missense_P68S exm983779 12 10786603 [T/C] NM_018423 STYK1 EXON Missense_R58H exm983782 12 10786691 [T/C] NM_018423 STYK1 EXON Missense_V29I exm983784 12 10787165 [A/C] NM_018423 STYK1 Silent exm2271685 12 10848803 [T/C] exm983793 12 10853951 [C/G] NM_001145426,NM_003651 CSDA,CSDA EXON Missense_A283G,Missense_A352G exm983795 12 10854593 [T/C] NM_001145426,NM_003651 CSDA,CSDA EXON Missense_R271H,Missense_R340H exm2219790 12 10854614 [T/C] NM_001145426,NM_003651 CSDA,CSDA EXON Missense_Y264C,Missense_Y333C exm983808 12 10854719 [T/C] NM_001145426,NM_003651 CSDA,CSDA EXON Missense_R229H,Missense_R298H exm983811 12 10856653 [T/C] NM_001145426,NM_003651 CSDA,CSDA EXON Missense_R223H,Missense_R292H exm983813 12 10856672 [T/C] NM_001145426,NM_003651 CSDA,CSDA EXON Missense_T217A,Missense_T286A exm983814 12 10856680 [T/C] NM_001145426,NM_003651 CSDA,CSDA EXON Missense_R214Q,Missense_R283Q exm983816 12 10856689 [A/G] NM_001145426,NM_003651 CSDA,CSDA EXON Missense_P211L,Missense_P280L exm983825 12 10862595 [T/G] NM_001145426,NM_003651 CSDA,CSDA EXON Silent,Missense_Q231P exm983829 12 10862617 [A/G] NM_001145426,NM_003651 CSDA,CSDA EXON Silent,Missense_R224C exm983840 12 10865826 [T/C] NM_001145426,NM_003651 CSDA,CSDA EXON Missense_R186H,Missense_R186H exm983868 12 10954258 [T/C] NM_023919 TAS2R7 EXON Missense_M304I exm983869 12 10954283 [G/C] NM_023919 TAS2R7 EXON Missense_S296C exm2219806 12 10954287 [A/C] NM_023919 TAS2R7 EXON Missense_A295S exm983871 12 10954330 [A/T] NM_023919 TAS2R7 EXON Missense_S280R exm983872 12 10954382 [A/G] NM_023919 TAS2R7 EXON Missense_T263M exm983873 12 10954383 [T/A] NM_023919 TAS2R7 EXON Missense_T263S exm2250571 12 10954420 [A/G] NM_023919 TAS2R7 EXON Synonymous_S250S exm983877 12 10954430 [T/C] NM_023919 TAS2R7 EXON Missense_Y247C exm983880 12 10954530 [A/G] NM_023919 TAS2R7 EXON Nonsense_R214X exm983881 12 10954536 [T/C] NM_023919 TAS2R7 EXON Missense_I212V exm983882 12 10954544 [T/C] NM_023919 TAS2R7 EXON Missense_R209Q exm983886 12 10954632 [A/C] NM_023919 TAS2R7 EXON Missense_A180S exm983899 12 10954821 [A/G] NM_023919 TAS2R7 EXON Missense_P117S exm983905 12 10954916 [A/G] NM_023919 TAS2R7 EXON Missense_I85T exm983906 12 10954919 [A/G] NM_023919 TAS2R7 EXON Missense_I84T exm983911 12 10954989 [T/C] NM_023919 TAS2R7 EXON Missense_V61I exm983917 12 10958658 [T/C] NM_023918 TAS2R8 EXON Missense_M308V exm983918 12 10958660 [T/C] NM_023918 TAS2R8 EXON Missense_C307Y exm983919 12 10958664 [A/C] NM_023918 TAS2R8 EXON Missense_A306S exm983921 12 10958751 [A/G] NM_023918 TAS2R8 EXON Missense_Y277H exm983925 12 10958846 [A/G] NM_023918 TAS2R8 EXON Missense_F245S exm983926 12 10958896 [T/G] NM_023918 TAS2R8 EXON Missense_E228D exm983928 12 10958919 [T/C] NM_023918 TAS2R8 EXON Missense_G221S exm983933 12 10959029 [A/G] NM_023918 TAS2R8 EXON Missense_T184I exm983937 12 10959084 [T/C] NM_023918 TAS2R8 EXON Missense_R166G exm983942 12 10959210 [A/C] NM_023918 TAS2R8 EXON Missense_W124G exm983943 12 10959248 [A/G] NM_023918 TAS2R8 EXON Missense_I111T exm1752264 12 10959252 [T/C] NM_023918 TAS2R8 EXON Missense_K110E exm983949 12 10959405 [A/T] NM_023918 TAS2R8 EXON Missense_I59F exm983952 12 10959438 [A/G] NM_023918 TAS2R8 EXON Missense_L48F exm983955 12 10959479 [T/C] NM_023918 TAS2R8 EXON Missense_D34G exm983957 12 10959534 [A/C] NM_023918 TAS2R8 EXON Nonsense_E16X exm983960 12 10961741 [A/G] NM_023917 TAS2R9 EXON Missense_P312S exm983961 12 10961777 [T/C] NM_023917 TAS2R9 EXON Missense_V300M exm983972 12 10961978 [T/C] NM_023917 TAS2R9 EXON Missense_A233T exm983976 12 10962022 [T/C] NM_023917 TAS2R9 EXON Missense_G218E exm1752297 12 10962085 [A/G] NM_023917 TAS2R9 EXON Missense_S197L exm983980 12 10962110 [A/C] NM_023917 TAS2R9 EXON Missense_V189F exm983981 12 10962115 [A/G] NM_023917 TAS2R9 EXON Missense_V187A exm983982 12 10962118 [T/C] NM_023917 TAS2R9 EXON Missense_G186E exm983983 12 10962140 [T/C] NM_023917 TAS2R9 EXON Missense_K179E exm983991 12 10962294 [T/G] NM_023917 TAS2R9 EXON Missense_N127K exm983996 12 10962474 [T/G] NM_023917 TAS2R9 EXON Missense_F67L exm983999 12 10962573 [G/C] NM_023917 TAS2R9 EXON Missense_D34E exm984013 12 10978112 [A/G] NM_023921 TAS2R10 EXON Nonsense_R253X exm984016 12 10978168 [T/A] NM_023921 TAS2R10 EXON Missense_I234N exm984018 12 10978178 [A/G] NM_023921 TAS2R10 EXON Missense_S231P exm1752512 12 10978248 [T/C] NM_023921 TAS2R10 EXON Missense_M207I exm984024 12 10978260 [T/G] NM_023921 TAS2R10 EXON Missense_H203Q exm984032 12 10978348 [T/G] NM_023921 TAS2R10 EXON Missense_K174T exm984033 12 10978402 [A/G] NM_023921 TAS2R10 EXON Missense_T156M exm984037 12 10978450 [A/G] NM_023921 TAS2R10 EXON Missense_S140L exm984039 12 10978534 [T/G] NM_023921 TAS2R10 EXON Missense_N112T exm1752516 12 10978607 [A/G] NM_023921 TAS2R10 EXON Missense_W88R exm984045 12 10978660 [A/G] NM_023921 TAS2R10 EXON Missense_F70S exm984057 12 10999708 [T/C] NM_001098538,NR_037918,NM_007244 PRR4,PRH1-PRR4,PRR4 EXON Missense_R43G,Silent,Missense_Q120R exm984058 12 10999780 [T/C] NM_001098538,NR_037918,NM_007244 PRR4,PRH1-PRR4,PRR4 EXON Silent,Silent,Missense_R96Q exm1752669 12 10999790 [A/G] NM_001098538,NR_037918,NM_007244 PRR4,PRH1-PRR4,PRR4 EXON Silent,Silent,Nonsense_R93X exm984067 12 10999891 [C/G] NM_001098538,NR_037918,NM_007244 PRR4,PRH1-PRR4,PRR4 EXON Silent,Silent,Missense_P59R exm984068 12 10999916 [T/G] NM_001098538,NR_037918,NM_007244 PRR4,PRH1-PRR4,PRR4 EXON Silent,Silent,Missense_P51T exm984108 12 11060991 [A/G] NR_037918,NM_023920 PRH1-PRR4,TAS2R13 EXON Silent,Nonsense_R303X exm984110 12 11061068 [A/T] NR_037918,NM_023920 PRH1-PRR4,TAS2R13 EXON Silent,Missense_H277L exm984113 12 11061122 [T/C] NR_037918,NM_023920 PRH1-PRR4,TAS2R13 EXON Silent,Missense_N259S exm2219839 12 11061171 [T/C] NR_037918,NM_023920 PRH1-PRR4,TAS2R13 EXON Silent,Missense_S243G exm984120 12 11061351 [T/C] NR_037918,NM_023920 PRH1-PRR4,TAS2R13 EXON Silent,Missense_M183V exm984131 12 11061617 [T/C] NR_037918,NM_023920 PRH1-PRR4,TAS2R13 EXON Silent,Missense_H94R exm984176 12 11090879 [A/G] NR_037918,NM_023922 PRH1-PRR4,TAS2R14 EXON Silent,Missense_H310Y exm984187 12 11091166 [T/C] NR_037918,NM_023922 PRH1-PRR4,TAS2R14 EXON Silent,Missense_H214R exm984189 12 11091181 [T/C] NR_037918,NM_023922 PRH1-PRR4,TAS2R14 EXON Silent,Missense_R209H exm984191 12 11091189 [A/C] NR_037918,NM_023922 PRH1-PRR4,TAS2R14 EXON Silent,Missense_W206C exm984193 12 11091206 [A/G] NR_037918,NM_023922 PRH1-PRR4,TAS2R14 EXON Silent,Missense_L201F exm984198 12 11091287 [A/G] NR_037918,NM_023922 PRH1-PRR4,TAS2R14 EXON Silent,Nonsense_R174X exm984203 12 11091455 [T/C] NR_037918,NM_023922 PRH1-PRR4,TAS2R14 EXON Silent,Missense_I118V exm984209 12 11091548 [A/T] NR_037918,NM_023922 PRH1-PRR4,TAS2R14 EXON Silent,Missense_N87Y exm984210 12 11091551 [T/C] NR_037918,NM_023922 PRH1-PRR4,TAS2R14 EXON Silent,Missense_T86A exm984212 12 11091608 [A/T] NR_037918,NM_023922 PRH1-PRR4,TAS2R14 EXON Silent,Missense_C67S exm984215 12 11091643 [T/C] NR_037918,NM_023922 PRH1-PRR4,TAS2R14 EXON Silent,Missense_R55Q exm984223 12 11091792 [T/C] NR_037918,NM_023922 PRH1-PRR4,TAS2R14 EXON Silent,Missense_I5M exm984242 12 11138852 [T/C] NR_037918,NM_176890 PRH1-PRR4,TAS2R50 EXON Silent,Missense_C203Y exm984243 12 11138861 [C/G] NR_037918,NM_176890 PRH1-PRR4,TAS2R50 EXON Silent,Missense_C200S exm984246 12 11138969 [T/C] NR_037918,NM_176890 PRH1-PRR4,TAS2R50 EXON Silent,Missense_G164E exm984258 12 11139233 [T/C] NR_037918,NM_176890 PRH1-PRR4,TAS2R50 EXON Silent,Missense_Y76C exm984260 12 11139279 [A/C] NR_037918,NM_176890 PRH1-PRR4,TAS2R50 EXON Silent,Missense_A61S exm984262 12 11139332 [A/G] NR_037918,NM_176890 PRH1-PRR4,TAS2R50 EXON Silent,Missense_S43L exm1753246 12 11149658 [A/G] NR_037918,NM_176889 PRH1-PRR4,TAS2R20 EXON Silent,Missense_S273P exm984277 12 11149667 [T/C] NR_037918,NM_176889 PRH1-PRR4,TAS2R20 EXON Silent,Missense_I270V exm984280 12 11149689 [T/C] NR_037918,NM_176889 PRH1-PRR4,TAS2R20 EXON Silent,Missense_M262I exm984281 12 11149711 [A/C] NR_037918,NM_176889 PRH1-PRR4,TAS2R20 EXON Silent,Missense_R255L exm984282 12 11149720 [A/G] NR_037918,NM_176889 PRH1-PRR4,TAS2R20 EXON Silent,Missense_F252S exm984284 12 11149769 [T/C] NR_037918,NM_176889 PRH1-PRR4,TAS2R20 EXON Silent,Missense_I236V exm984288 12 11149896 [T/C] NR_037918,NM_176889 PRH1-PRR4,TAS2R20 EXON Silent,Missense_I193M exm984290 12 11149959 [T/C] NR_037918,NM_176889 PRH1-PRR4,TAS2R20 EXON Silent,Missense_M172I exm984296 12 11150033 [T/G] NR_037918,NM_176889 PRH1-PRR4,TAS2R20 EXON Silent,Missense_H148N exm984298 12 11150046 [T/G] NR_037918,NM_176889 PRH1-PRR4,TAS2R20 EXON Silent,Missense_H143Q exm984299 12 11150054 [T/C] NR_037918,NM_176889 PRH1-PRR4,TAS2R20 EXON Silent,Missense_V141I exm984301 12 11150071 [T/C] NR_037918,NM_176889 PRH1-PRR4,TAS2R20 EXON Silent,Missense_G135E exm984309 12 11150240 [T/C] NR_037918,NM_176889 PRH1-PRR4,TAS2R20 EXON Silent,Missense_K79E exm984315 12 11150371 [T/C] NR_037918,NM_176889 PRH1-PRR4,TAS2R20 EXON Silent,Nonsense_W35X exm984316 12 11150437 [A/G] NR_037918,NM_176889 PRH1-PRR4,TAS2R20 EXON Silent,Missense_V13A exm984317 12 11150448 [T/A] NR_037918,NM_176889 PRH1-PRR4,TAS2R20 EXON Silent,Missense_F9L exm984327 12 11174276 [A/G] NR_037918,NM_176888 PRH1-PRR4,TAS2R19 EXON Silent,Missense_R299C exm984329 12 11174282 [T/C] NR_037918,NM_176888 PRH1-PRR4,TAS2R19 EXON Silent,Missense_M297V exm984330 12 11174302 [A/G] NR_037918,NM_176888 PRH1-PRR4,TAS2R19 EXON Silent,Missense_F290S exm984331 12 11174321 [T/C] NR_037918,NM_176888 PRH1-PRR4,TAS2R19 EXON Silent,Missense_R284G exm984339 12 11174397 [T/A] NR_037918,NM_176888 PRH1-PRR4,TAS2R19 EXON Silent,Missense_K258N exm984348 12 11174498 [T/C] NR_037918,NM_176888 PRH1-PRR4,TAS2R19 EXON Silent,Missense_I225V exm1753286 12 11174543 [A/G] NR_037918,NM_176888 PRH1-PRR4,TAS2R19 EXON Silent,Missense_R210W exm984357 12 11174557 [T/C] NR_037918,NM_176888 PRH1-PRR4,TAS2R19 EXON Silent,Missense_H205R exm984359 12 11174566 [A/G] NR_037918,NM_176888 PRH1-PRR4,TAS2R19 EXON Silent,Missense_L202P exm984360 12 11174576 [T/C] NR_037918,NM_176888 PRH1-PRR4,TAS2R19 EXON Silent,Missense_I199V exm984363 12 11174618 [A/G] NR_037918,NM_176888 PRH1-PRR4,TAS2R19 EXON Silent,Missense_L185F exm984365 12 11174636 [T/C] NR_037918,NM_176888 PRH1-PRR4,TAS2R19 EXON Silent,Missense_V179I exm984366 12 11174642 [A/T] NR_037918,NM_176888 PRH1-PRR4,TAS2R19 EXON Silent,Missense_L177M exm984367 12 11174644 [T/C] NR_037918,NM_176888 PRH1-PRR4,TAS2R19 EXON Silent,Missense_S176N exm984369 12 11174672 [T/C] NR_037918,NM_176888 PRH1-PRR4,TAS2R19 EXON Silent,Missense_K167E exm984382 12 11174795 [T/G] NR_037918,NM_176888 PRH1-PRR4,TAS2R19 EXON Silent,Missense_K126Q exm984386 12 11174867 [A/G] NR_037918,NM_176888 PRH1-PRR4,TAS2R19 EXON Silent,Missense_L102F exm984388 12 11174906 [A/C] NR_037918,NM_176888 PRH1-PRR4,TAS2R19 EXON Silent,Missense_A89S exm1753299 12 11175001 [T/C] NR_037918,NM_176888 PRH1-PRR4,TAS2R19 EXON Silent,Missense_G57D exm984395 12 11175055 [T/C] NR_037918,NM_176888 PRH1-PRR4,TAS2R19 EXON Silent,Missense_R39Q exm984412 12 11183042 [G/C] NR_037918,NM_176885 PRH1-PRR4,TAS2R31 EXON Silent,Missense_R298T exm984428 12 11183197 [T/C] NR_037918,NM_176885 PRH1-PRR4,TAS2R31 EXON Silent,Missense_M246I exm984431 12 11183202 [T/C] NR_037918,NM_176885 PRH1-PRR4,TAS2R31 EXON Silent,Missense_I245V exm984437 12 11183232 [A/G] NR_037918,NM_176885 PRH1-PRR4,TAS2R31 EXON Silent,Missense_L235F exm984445 12 11183336 [T/C] NR_037918,NM_176885 PRH1-PRR4,TAS2R31 EXON Silent,Missense_C200Y exm984452 12 11183421 [T/C] NR_037918,NM_176885 PRH1-PRR4,TAS2R31 EXON Silent,Missense_V172M exm984456 12 11183456 [A/C] NR_037918,NM_176885 PRH1-PRR4,TAS2R31 EXON Silent,Missense_G160V exm984503 12 11183920 [T/C] NR_037918,NM_176885 PRH1-PRR4,TAS2R31 EXON Silent,Missense_I5M exm984515 12 11214133 [T/C] NR_037918,NM_176887 PRH1-PRR4,TAS2R46 EXON Silent,Missense_S254N exm984520 12 11214167 [G/C] NR_037918,NM_176887 PRH1-PRR4,TAS2R46 EXON Silent,Missense_L243V exm984538 12 11214383 [T/C] NR_037918,NM_176887 PRH1-PRR4,TAS2R46 EXON Silent,Missense_A171T exm984540 12 11214386 [T/G] NR_037918,NM_176887 PRH1-PRR4,TAS2R46 EXON Silent,Missense_S170R exm984547 12 11214484 [A/G] NR_037918,NM_176887 PRH1-PRR4,TAS2R46 EXON Silent,Missense_L137S exm2219886 12 11214601 [A/G] NR_037918,NM_176887 PRH1-PRR4,TAS2R46 EXON Silent,Missense_L98P exm984556 12 11214634 [A/C] NR_037918,NM_176887 PRH1-PRR4,TAS2R46 EXON Silent,Missense_V87G exm984592 12 11244068 [T/C] NR_037918,NM_176884 PRH1-PRR4,TAS2R43 EXON Silent,Missense_S254N exm984601 12 11244102 [G/C] NR_037918,NM_176884 PRH1-PRR4,TAS2R43 EXON Silent,Missense_L243V exm984654 12 11244602 [T/C] NR_037918,NM_176884 PRH1-PRR4,TAS2R43 EXON Silent,Missense_N76S exm984656 12 11244621 [G/C] NR_037918,NM_176884 PRH1-PRR4,TAS2R43 EXON Silent,Missense_V70L exm984684 12 11285901 [T/C] NR_037918,NM_001097643 PRH1-PRR4,TAS2R30 EXON Silent,Missense_A315T exm1753781 12 11285924 [C/G] NR_037918,NM_001097643 PRH1-PRR4,TAS2R30 EXON Silent,Missense_R307P exm984686 12 11285935 [G/C] NR_037918,NM_001097643 PRH1-PRR4,TAS2R30 EXON Silent,Missense_D303E exm984688 12 11285951 [G/C] NR_037918,NM_001097643 PRH1-PRR4,TAS2R30 EXON Silent,Missense_R298T exm984690 12 11285961 [A/G] NR_037918,NM_001097643 PRH1-PRR4,TAS2R30 EXON Silent,Missense_R295W exm984691 12 11285975 [T/A] NR_037918,NM_001097643 PRH1-PRR4,TAS2R30 EXON Silent,Missense_F290Y exm984695 12 11286024 [T/C] NR_037918,NM_001097643 PRH1-PRR4,TAS2R30 EXON Silent,Missense_T274A exm984696 12 11286030 [A/G] NR_037918,NM_001097643 PRH1-PRR4,TAS2R30 EXON Silent,Missense_P272S exm984697 12 11286032 [T/C] NR_037918,NM_001097643 PRH1-PRR4,TAS2R30 EXON Silent,Missense_Y271C exm984698 12 11286041 [A/C] NR_037918,NM_001097643 PRH1-PRR4,TAS2R30 EXON Silent,Missense_I268R exm984704 12 11286092 [T/C] NR_037918,NM_001097643 PRH1-PRR4,TAS2R30 EXON Silent,Missense_N251S exm984710 12 11286117 [G/C] NR_037918,NM_001097643 PRH1-PRR4,TAS2R30 EXON Silent,Missense_L243V exm984715 12 11286149 [A/G] NR_037918,NM_001097643 PRH1-PRR4,TAS2R30 EXON Silent,Missense_T232I exm984727 12 11286249 [T/C] NR_037918,NM_001097643 PRH1-PRR4,TAS2R30 EXON Silent,Missense_I199V exm984728 12 11286267 [T/C] NR_037918,NM_001097643 PRH1-PRR4,TAS2R30 EXON Silent,Missense_I193V exm984730 12 11286300 [T/G] NR_037918,NM_001097643 PRH1-PRR4,TAS2R30 EXON Silent,Missense_L182I exm984736 12 11286336 [T/G] NR_037918,NM_001097643 PRH1-PRR4,TAS2R30 EXON Silent,Missense_S170R exm984738 12 11286360 [T/C] NR_037918,NM_001097643 PRH1-PRR4,TAS2R30 EXON Silent,Missense_V162M exm984741 12 11286373 [T/G] NR_037918,NM_001097643 PRH1-PRR4,TAS2R30 EXON Silent,Missense_E157D exm984746 12 11286396 [T/C] NR_037918,NM_001097643 PRH1-PRR4,TAS2R30 EXON Silent,Missense_D150N exm984747 12 11286405 [T/C] NR_037918,NM_001097643 PRH1-PRR4,TAS2R30 EXON Silent,Missense_I147V exm984748 12 11286422 [A/G] NR_037918,NM_001097643 PRH1-PRR4,TAS2R30 EXON Silent,Missense_V141A exm984754 12 11286486 [A/G] NR_037918,NM_001097643 PRH1-PRR4,TAS2R30 EXON Silent,Missense_R120C exm984780 12 11338603 [A/C] NM_181429 TAS2R42 EXON Missense_L314W exm984783 12 11338632 [T/G] NM_181429 TAS2R42 EXON Missense_N304K exm984786 12 11338669 [T/C] NM_181429 TAS2R42 EXON Missense_R292Q exm984790 12 11338746 [T/C] NM_181429 TAS2R42 EXON Missense_I266M exm984791 12 11338750 [T/C] NM_181429 TAS2R42 EXON Missense_Y265C exm984792 12 11338762 [T/C] NM_181429 TAS2R42 EXON Nonsense_W261X exm984795 12 11338781 [A/C] NM_181429 TAS2R42 EXON Missense_G255W exm984803 12 11338957 [A/G] NM_181429 TAS2R42 EXON Missense_F196S exm984807 12 11339020 [A/T] NM_181429 TAS2R42 EXON Missense_Y175F exm984813 12 11339197 [T/C] NM_181429 TAS2R42 EXON Missense_H116R exm984815 12 11339357 [T/G] NM_181429 TAS2R42 EXON Missense_L63M exm984817 12 11339378 [T/C] NM_181429 TAS2R42 EXON Missense_I56V exm984934 12 11461154 [C/G] NM_002723,NM_001261399 PRB4,PRB4 Silent,Silent exm984938 12 11461223 [A/G] NM_002723,NM_001261399 PRB4,PRB4 EXON Nonsense_Q232X,Nonsense_Q163X exm984946 12 11461367 [T/G] NM_002723,NM_001261399 PRB4,PRB4 EXON Missense_Q184K,Missense_Q115K exm984949 12 11461417 [A/G] NM_002723,NM_001261399 PRB4,PRB4 EXON Missense_P167L,Silent exm984951 12 11461427 [T/C] NM_002723,NM_001261399 PRB4,PRB4 EXON Missense_G164R,Silent exm985011 12 11461816 [T/C] NM_002723,NM_001261399 PRB4,PRB4 EXON Missense_G34E,Missense_G34E exm985022 12 11463283 [T/C] NM_002723,NM_001261399 PRB4,PRB4 EXON Missense_E17G,Missense_E17G exm985026 12 11463322 [A/G] NM_002723,NM_001261399 PRB4,PRB4 EXON Missense_I4T,Missense_I4T exm985075 12 11506486 [T/G] NM_199353,NM_199354,NM_005039 PRB1,PRB1,PRB1 EXON Silent,Silent,Missense_P184Q exm-rs2908835 12 11648418 [T/C] exm2267415 12 11827629 [A/G] NM_001987 ETV6 Silent exm-rs2187642 12 11855624 [A/C] NM_001987 ETV6 Silent exm-rs2856321 12 11855773 [A/G] NM_001987 ETV6 Silent exm985309 12 11992106 [A/G] NM_001987,NR_046487 ETV6,RNU6-19 EXON Missense_V66I,Silent exm985315 12 12006412 [A/G] NM_001987,NR_046487 ETV6,RNU6-19 EXON Missense_R127Q,Silent exm1755512 12 12022390 [A/G] NM_001987,NR_046487 ETV6,RNU6-19 EXON Missense_V166M,Silent exm985329 12 12022496 [T/C] NM_001987,NR_046487 ETV6,RNU6-19 EXON Missense_L201P,Silent exm985383 12 12232283 [A/G] NM_138723,NM_030766,NM_138722 BCL2L14,BCL2L14,BCL2L14 EXON Missense_D15G,Missense_D15G,Missense_D15G exm985384 12 12232304 [T/C] NM_138723,NM_030766,NM_138722 BCL2L14,BCL2L14,BCL2L14 EXON Missense_I22T,Missense_I22T,Missense_I22T exm985386 12 12232321 [A/G] NM_138723,NM_030766,NM_138722 BCL2L14,BCL2L14,BCL2L14 EXON Missense_A28T,Missense_A28T,Missense_A28T exm985399 12 12232589 [A/G] NM_138723,NM_030766,NM_138722 BCL2L14,BCL2L14,BCL2L14 EXON Missense_Q117R,Missense_Q117R,Missense_Q117R exm985408 12 12240299 [A/G] NM_138723,NM_030766,NM_138722 BCL2L14,BCL2L14,BCL2L14 EXON Missense_V196I,Missense_V196I,Missense_V196I exm985409 12 12240300 [T/A] NM_138723,NM_030766,NM_138722 BCL2L14,BCL2L14,BCL2L14 EXON Missense_V196E,Missense_V196E,Missense_V196E exm985420 12 12247694 [A/C] NM_138723,NM_030766,NM_138722 BCL2L14,BCL2L14,BCL2L14 EXON Missense_P259T,Silent,Missense_P259T exm985421 12 12247701 [A/G] NM_138723,NM_030766,NM_138722 BCL2L14,BCL2L14,BCL2L14 EXON Missense_G261E,Silent,Missense_G261E exm2276229 12 12247751 [A/G] NM_138723,NM_030766,NM_138722 BCL2L14,BCL2L14,BCL2L14 EXON Missense_V278I,Silent,Missense_V278I exm985427 12 12247757 [A/G] NM_138723,NM_030766,NM_138722 BCL2L14,BCL2L14,BCL2L14 EXON Missense_A280T,Silent,Missense_A280T exm985431 12 12247836 [T/C] NM_138723,NM_030766,NM_138722 BCL2L14,BCL2L14,BCL2L14 EXON Missense_S306L,Silent,Missense_S306L exm985450 12 12277521 [A/G] NM_002336 LRP6 EXON Missense_P1509S exm985455 12 12278243 [A/G] NM_002336 LRP6 EXON Missense_T1479I exm985462 12 12279699 [T/C] NM_002336 LRP6 EXON Missense_Y1413C exm985465 12 12279735 [T/C] NM_002336 LRP6 EXON Missense_R1401H exm985468 12 12279793 [A/C] NM_002336 LRP6 EXON Missense_V1382F exm985469 12 12279831 [T/C] NM_002336 LRP6 EXON Missense_Q1369R exm985471 12 12283736 [G/C] NM_002336 LRP6 EXON Missense_K1354N exm985493 12 12291339 [T/G] NM_002336 LRP6 EXON Missense_E1176A exm985501 12 12291460 [A/G] NM_002336 LRP6 EXON Missense_R1136W exm985508 12 12300309 [T/C] NM_002336 LRP6 EXON Missense_D1130N exm985517 12 12301898 [T/C] NM_002336 LRP6 EXON Missense_V1062I exm985519 12 12301952 [T/C] NM_002336 LRP6 EXON Missense_D1044N exm2250655 12 12303899 [A/G] NM_002336 LRP6 EXON Synonymous_P955P exm985530 12 12303899 [A/G] NM_002336 LRP6 EXON Synonymous_P955P exm985536 12 12311955 [T/C] NM_002336 LRP6 EXON Missense_T867A exm985541 12 12312728 [G/C] NM_002336 LRP6 EXON Missense_S817C exm985549 12 12315203 [T/C] NM_002336 LRP6 EXON Missense_D735N exm985562 12 12317389 [T/C] NM_002336 LRP6 EXON Missense_M624V exm985569 12 12318150 [T/C] NM_002336 LRP6 EXON Missense_G542D exm985574 12 12332842 [T/C] NM_002336 LRP6 EXON Missense_V483I exm985576 12 12332853 [A/G] NM_002336 LRP6 EXON Missense_S479F exm1757293 12 12334098 [A/G] NM_002336 LRP6 EXON Missense_Y418H exm985586 12 12334194 [A/G] NM_002336 LRP6 EXON Missense_R386C exm985589 12 12334271 [T/C] NM_002336 LRP6 EXON Missense_R360H exm985591 12 12334341 [T/C] NM_002336 LRP6 EXON Missense_T337A exm985608 12 12397266 [T/A] NM_002336 LRP6 EXON Missense_S127T exm985609 12 12397292 [T/C] NM_002336 LRP6 EXON Missense_R118Q exm985612 12 12397428 [T/C] NM_002336 LRP6 EXON Missense_E73K exm985616 12 12397532 [T/C] NM_002336 LRP6 EXON Missense_N38S exm985630 12 12483019 [T/C] NM_018050 MANSC1 EXON Missense_R413H exm985637 12 12483134 [A/T] NM_018050 MANSC1 EXON Missense_N375Y exm985640 12 12483193 [A/G] NM_018050 MANSC1 EXON Missense_A355V exm985642 12 12483233 [A/G] NM_018050 MANSC1 EXON Missense_S342P exm985676 12 12483664 [T/C] NM_018050 MANSC1 EXON Missense_Y198C exm985680 12 12483764 [T/C] NM_018050 MANSC1 EXON Missense_D165N exm985697 12 12496086 [T/C] NM_018050 MANSC1 EXON Missense_V55I exm985699 12 12496104 [T/C] NM_018050 MANSC1 EXON Missense_I49V exm985704 12 12496184 [T/C] NM_018050 MANSC1 EXON Missense_R22K exm985711 12 12514203 [C/G] NM_058169 LOH12CR1 EXON Missense_S41C exm2267321 12 12578786 [A/G] NM_058169 LOH12CR1 Silent exm985726 12 12618541 [A/G] NM_058169 LOH12CR1 EXON Missense_K141R exm1758738 12 12618609 [A/G] NM_058169 LOH12CR1 EXON Missense_D164N exm985733 12 12618690 [A/G] NM_058169 LOH12CR1 EXON Missense_D191N exm1758744 12 12629972 [T/C] NM_030640 DUSP16 EXON Missense_R598H exm985759 12 12630140 [T/G] NM_030640 DUSP16 EXON Missense_D542A exm985763 12 12630207 [T/C] NM_030640 DUSP16 EXON Missense_G520S exm985764 12 12630213 [C/G] NM_030640 DUSP16 EXON Missense_L518V exm985767 12 12630240 [T/C] NM_030640 DUSP16 EXON Missense_V509M exm1758745 12 12630308 [A/G] NM_030640 DUSP16 EXON Missense_S486L exm985773 12 12630392 [A/G] NM_030640 DUSP16 EXON Missense_T458I exm2250677 12 12630562 [A/C] NM_030640 DUSP16 EXON Synonymous_S401S exm985784 12 12630584 [T/C] NM_030640 DUSP16 EXON Missense_N394S exm2274568 12 12630641 [A/G] NM_030640 DUSP16 EXON Missense_P375L exm985790 12 12630669 [T/C] NM_030640 DUSP16 EXON Missense_V366M exm985828 12 12673878 [T/C] NM_030640 DUSP16 EXON Missense_K52R exm985832 12 12673965 [A/G] NM_030640 DUSP16 EXON Missense_T23M exm985859 12 12814190 [T/C] NM_006143 GPR19 EXON Missense_K398R exm985879 12 12814818 [T/C] NM_006143 GPR19 EXON Missense_V189I exm985882 12 12814881 [T/C] NM_006143 GPR19 EXON Missense_V168I exm985889 12 12815037 [T/C] NM_006143 GPR19 EXON Missense_V116I exm985894 12 12815196 [T/C] NM_006143 GPR19 EXON Missense_G63R exm985898 12 12815291 [A/G] NM_006143 GPR19 EXON Missense_T31I exm1758836 12 12870998 [C/G] NM_004064 CDKN1B EXON Missense_E75D exm985938 12 12871129 [T/C] NM_004064 CDKN1B EXON Missense_I119T exm985942 12 12871170 [A/C] NM_004064 CDKN1B EXON Missense_P133T exm985949 12 12871801 [A/G] NM_004064 CDKN1B EXON Missense_N173S exm985953 12 12871860 [T/C] NM_004064 CDKN1B EXON Missense_L193F exm985960 12 12878963 [T/G] NM_001130415 APOLD1 EXON Missense_R10L exm985963 12 12879031 [A/G] NM_001130415 APOLD1 Silent exm985986 12 12940146 [A/G] NM_001130415,NM_030817 APOLD1,APOLD1 EXON Missense_I134V,Missense_I103V exm985993 12 12940292 [T/G] NM_001130415,NM_030817 APOLD1,APOLD1 EXON Missense_Q182H,Missense_Q151H exm985994 12 12940315 [T/C] NM_001130415,NM_030817 APOLD1,APOLD1 EXON Missense_A190V,Missense_A159V exm986006 12 12940494 [T/C] NM_001130415,NM_030817 APOLD1,APOLD1 EXON Nonsense_Q250X,Nonsense_Q219X exm986007 12 12940506 [T/C] NM_001130415,NM_030817 APOLD1,APOLD1 EXON Missense_R254W,Missense_R223W exm986012 12 12966314 [A/G] NM_201224,NM_016355 DDX47,DDX47 EXON Missense_E5K,Missense_E5K exm986014 12 12966348 [A/C] NM_201224,NM_016355 DDX47,DDX47 EXON Missense_P16Q,Missense_P16Q exm986015 12 12966354 [T/C] NM_201224,NM_016355 DDX47,DDX47 EXON Missense_V18A,Missense_V18A exm-rs1051374 12 12967127 [T/C] NM_201224,NM_016355 DDX47,DDX47 EXON Synonymous_I50I,Synonymous_I50I exm986028 12 12974246 [A/C] NM_201224,NM_016355 DDX47,DDX47 EXON Missense_L96I,Missense_L96I exm986032 12 12974636 [A/G] NM_201224,NM_016355 DDX47,DDX47 EXON Missense_A140T,Missense_A140T exm986033 12 12974921 [C/G] NM_201224,NM_016355 DDX47,DDX47 EXON Missense_D155E,Missense_D155E exm986048 12 12976137 [A/G] NM_201224,NM_016355 DDX47,DDX47 EXON Missense_V212I,Missense_V212I exm986064 12 12977586 [A/G] NM_201224,NM_016355 DDX47,DDX47 EXON Missense_N288S,Missense_N337S exm986073 12 12980202 [T/C] NM_201224,NM_016355 DDX47,DDX47 EXON Missense_R328C,Missense_R377C exm986077 12 12980254 [A/G] NM_201224,NM_016355 DDX47,DDX47 EXON Missense_D345G,Missense_D394G exm986079 12 12980266 [T/C] NM_201224,NM_016355 DDX47,DDX47 EXON Missense_M349T,Missense_M398T exm2220217 12 12980304 [T/C] NM_201224,NM_016355 DDX47,DDX47 EXON Nonsense_R362X,Nonsense_R411X exm986083 12 12980308 [A/T] NM_201224,NM_016355 DDX47,DDX47 EXON Missense_M363K,Missense_M412K exm1759021 12 12982358 [A/G] NM_201224,NM_016355 DDX47,DDX47 EXON Missense_E364G,Missense_E413G exm986086 12 12982368 [C/G] NM_201224,NM_016355 DDX47,DDX47 EXON Missense_E367D,Missense_E416D exm986089 12 12982394 [A/G] NM_201224,NM_016355 DDX47,DDX47 EXON Missense_R376Q,Missense_R425Q exm986090 12 12982486 [T/G] NM_201224,NM_016355 DDX47,DDX47 EXON Missense_X407E,Missense_X456E exm2271687 12 13037300 [T/C] exm986097 12 13061191 [A/C] NM_003979 GPRC5A EXON Missense_T3K exm986100 12 13061254 [G/C] NM_003979 GPRC5A EXON Missense_A24G exm2220220 12 13061320 [T/C] NM_003979 GPRC5A EXON Missense_M46T exm986108 12 13061356 [A/G] NM_003979 GPRC5A EXON Missense_D58G exm986119 12 13061457 [A/G] NM_003979 GPRC5A EXON Missense_S92G exm986125 12 13061518 [T/C] NM_003979 GPRC5A EXON Missense_L112P exm986128 12 13061535 [A/G] NM_003979 GPRC5A EXON Missense_S118G exm986131 12 13061553 [T/C] NM_003979 GPRC5A EXON Missense_R124W exm986132 12 13061554 [A/G] NM_003979 GPRC5A EXON Missense_R124Q exm986133 12 13061583 [A/G] NM_003979 GPRC5A EXON Missense_I134V exm986138 12 13061647 [T/C] NM_003979 GPRC5A EXON Missense_L155P exm986139 12 13061698 [A/G] NM_003979 GPRC5A EXON Missense_R172H exm986140 12 13061701 [A/G] NM_003979 GPRC5A EXON Missense_R173H exm986141 12 13061727 [A/G] NM_003979 GPRC5A EXON Missense_T182A exm986155 12 13061946 [A/G] NM_003979 GPRC5A EXON Missense_V255M exm986156 12 13061958 [T/G] NM_003979 GPRC5A EXON Missense_A259S exm986165 12 13065039 [T/C] NM_003979 GPRC5A EXON Missense_T315M exm986171 12 13065414 [T/C] NM_003979 GPRC5A EXON Missense_R339W exm986174 12 13065466 [A/G] NM_003979 GPRC5A EXON Missense_G356D exm2259987 12 13065709 [A/G] NM_003979 GPRC5A EXON Silent exm1759231 12 13093714 [T/C] NM_018654 GPRC5D EXON Missense_V345I exm986183 12 13093756 [T/C] NM_018654 GPRC5D EXON Missense_I331V exm986184 12 13093785 [T/C] NM_018654 GPRC5D Silent exm986186 12 13095214 [T/C] NM_018654 GPRC5D EXON Missense_G315D exm986193 12 13102500 [G/C] NM_018654 GPRC5D EXON Missense_C273W exm986198 12 13102573 [T/C] NM_018654 GPRC5D EXON Missense_N249S exm986199 12 13102576 [A/G] NM_018654 GPRC5D EXON Missense_T248I exm986214 12 13102738 [T/C] NM_018654 GPRC5D EXON Missense_G194D exm986218 12 13102852 [T/A] NM_018654 GPRC5D EXON Missense_M156K exm986222 12 13103014 [A/C] NM_018654 GPRC5D EXON Missense_L102R exm986246 12 13128270 [T/C] NM_015987 HEBP1 EXON Missense_R181H exm986250 12 13128306 [A/G] NM_015987 HEBP1 EXON Missense_T169M exm986251 12 13128307 [T/A] NM_015987 HEBP1 EXON Missense_T169S exm986252 12 13128313 [A/G] NM_015987 HEBP1 EXON Missense_F167L exm986253 12 13128320 [T/G] NM_015987 HEBP1 EXON Missense_D164E exm986260 12 13128363 [T/C] NM_015987 HEBP1 EXON Missense_R150H exm2220236 12 13142262 [A/G] NM_015987 HEBP1 EXON Missense_R56W exm986286 12 13208617 [T/C] NM_020853 KIAA1467 EXON Missense_A57V exm986291 12 13208728 [A/C] NM_020853 KIAA1467 EXON Missense_A94E exm986295 12 13208841 [C/G] NM_020853 KIAA1467 EXON Missense_L132V exm986306 12 13214545 [T/C] NM_020853 KIAA1467 EXON Missense_S190L exm986309 12 13214614 [A/G] NM_020853 KIAA1467 EXON Missense_E213G exm986317 12 13215829 [A/G] NM_020853 KIAA1467 EXON Missense_A258T exm1759449 12 13215880 [T/C] NM_020853 KIAA1467 EXON Missense_L275F exm986325 12 13219605 [A/G] NM_020853 KIAA1467 EXON Missense_R295Q exm1759463 12 13220148 [T/C] NM_020853 KIAA1467 EXON Missense_S354P exm986334 12 13221240 [T/A] NM_020853 KIAA1467 EXON Missense_D382V exm1759471 12 13221378 [A/G] NM_020853 KIAA1467 EXON Missense_R428H exm986347 12 13221631 [T/G] NM_020853 KIAA1467 EXON Missense_V452F exm986349 12 13224196 [A/T] NM_020853 KIAA1467 EXON Missense_S464T exm986356 12 13224330 [T/C] NM_020853 KIAA1467 EXON Synonymous_S508S exm986360 12 13228994 [A/G] NM_020853 KIAA1467 EXON Missense_H520R exm986366 12 13229066 [T/C] NM_020853 KIAA1467 EXON Missense_T544M exm986368 12 13232780 [A/G] NM_020853 KIAA1467 EXON Missense_S567N exm986370 12 13232812 [A/C] NM_020853 KIAA1467 EXON Missense_S578R exm986375 12 13232878 [A/G] NM_020853 KIAA1467 EXON Missense_K600E exm1759584 12 13233561 [G/C] NM_020853 KIAA1467 EXON Missense_I622M exm986395 12 13238121 [A/G] NM_001206845,NM_001206842,NM_153823,NM_001206843,NM_001080555,NM_031289,NM_001080554 GSG1,GSG1,GSG1,GSG1,GSG1,GSG1,GSG1 EXON Missense_T181M,Missense_T245M,Missense_T232M,Missense_T204M,Missense_T268M,Synonymous_H273H,Synonymous_H309H exm986401 12 13240162 [A/G] NM_001206845,NM_001206842,NM_153823,NM_001206843,NM_001080555,NM_031289,NM_001080554 GSG1,GSG1,GSG1,GSG1,GSG1,GSG1,GSG1 EXON Nonsense_Q137X,Nonsense_Q201X,Nonsense_Q188X,Nonsense_Q160X,Nonsense_Q224X,Missense_T229I,Missense_T265I exm986404 12 13240869 [A/G] NM_001206845,NM_001206842,NM_153823,NM_001206843,NM_001080555,NM_031289,NM_001080554 GSG1,GSG1,GSG1,GSG1,GSG1,GSG1,GSG1 EXON Silent,Synonymous_A179A,Synonymous_A166A,Silent,Synonymous_A202A,Missense_L208F,Missense_L244F exm986413 12 13241778 [T/C] NM_001206845,NM_001206842,NM_153823,NM_001206843,NM_001080555,NM_031289,NM_001080554 GSG1,GSG1,GSG1,GSG1,GSG1,GSG1,GSG1 EXON Silent,Silent,Silent,Silent,Silent,Missense_E131K,Missense_E167K exm986416 12 13242150 [A/G] NM_001206845,NM_001206842,NM_153823,NM_001206843,NM_001080555,NM_031289,NM_001080554 GSG1,GSG1,GSG1,GSG1,GSG1,GSG1,GSG1 EXON Silent,Silent,Silent,Missense_A129V,Missense_A142V,Silent,Missense_A142V exm986421 12 13243490 [T/C] NM_001206845,NM_001206842,NM_153823,NM_001206843,NM_001080555,NM_031289,NM_001080554 GSG1,GSG1,GSG1,GSG1,GSG1,GSG1,GSG1 EXON Missense_R91Q,Missense_R104Q,Missense_R91Q,Missense_R91Q,Missense_R104Q,Missense_R91Q,Missense_R104Q exm986422 12 13243516 [A/C] NM_001206845,NM_001206842,NM_153823,NM_001206843,NM_001080555,NM_031289,NM_001080554 GSG1,GSG1,GSG1,GSG1,GSG1,GSG1,GSG1 EXON Missense_E82D,Missense_E95D,Missense_E82D,Missense_E82D,Missense_E95D,Missense_E82D,Missense_E95D exm986423 12 13243523 [T/A] NM_001206845,NM_001206842,NM_153823,NM_001206843,NM_001080555,NM_031289,NM_001080554 GSG1,GSG1,GSG1,GSG1,GSG1,GSG1,GSG1 EXON Missense_N80I,Missense_N93I,Missense_N80I,Missense_N80I,Missense_N93I,Missense_N80I,Missense_N93I exm986424 12 13243536 [T/C] NM_001206845,NM_001206842,NM_153823,NM_001206843,NM_001080555,NM_031289,NM_001080554 GSG1,GSG1,GSG1,GSG1,GSG1,GSG1,GSG1 EXON Missense_V76M,Missense_V89M,Missense_V76M,Missense_V76M,Missense_V89M,Missense_V76M,Missense_V89M exm986432 12 13243647 [A/G] NM_001206845,NM_001206842,NM_153823,NM_001206843,NM_001080555,NM_031289,NM_001080554 GSG1,GSG1,GSG1,GSG1,GSG1,GSG1,GSG1 EXON Missense_F39L,Missense_F52L,Missense_F39L,Missense_F39L,Missense_F52L,Missense_F39L,Missense_F52L exm986435 12 13243701 [A/G] NM_001206845,NM_001206842,NM_153823,NM_001206843,NM_001080555,NM_031289,NM_001080554 GSG1,GSG1,GSG1,GSG1,GSG1,GSG1,GSG1 EXON Missense_L21F,Missense_L34F,Missense_L21F,Missense_L21F,Missense_L34F,Missense_L21F,Missense_L34F exm986444 12 13364476 [T/G] NM_001423 EMP1 EXON Missense_V11G exm986447 12 13364484 [A/G] NM_001423 EMP1 EXON Missense_A14T exm986452 12 13366504 [A/G] NM_001423 EMP1 EXON Missense_S57N exm1760572 12 13366642 [T/C] NM_001423 EMP1 EXON Missense_M68T exm2220295 12 13366686 [A/G] NM_001423 EMP1 EXON Missense_V83M exm986455 12 13366702 [T/C] NM_001423 EMP1 EXON Missense_T88I exm986457 12 13367506 [G/C] NM_001423 EMP1 EXON Missense_H119D exm986460 12 13367528 [T/C] NM_001423 EMP1 EXON Missense_T126M exm986461 12 13367542 [A/G] NM_001423 EMP1 EXON Missense_G131S exm2259992 12 13603787 [A/G] exm986491 12 13715799 [T/C] NM_000834 GRIN2B EXON Missense_N1458S exm2250716 12 13715861 [A/G] NM_000834 GRIN2B EXON Synonymous_A1437A exm986498 12 13715932 [A/C] NM_000834 GRIN2B EXON Missense_A1414S exm986509 12 13716178 [A/C] NM_000834 GRIN2B EXON Missense_D1332Y exm986516 12 13716328 [T/G] NM_000834 GRIN2B EXON Missense_P1282T exm986522 12 13716373 [A/C] NM_000834 GRIN2B EXON Missense_A1267S exm1760665 12 13716375 [A/G] NM_000834 GRIN2B EXON Missense_P1266L exm2250717 12 13716638 [A/G] NM_000834 GRIN2B EXON Synonymous_H1178H exm986540 12 13716759 [T/C] NM_000834 GRIN2B EXON Missense_R1138Q exm2276230 12 13716783 [A/C] NM_000834 GRIN2B EXON Missense_R1130L exm986558 12 13717359 [T/C] NM_000834 GRIN2B EXON Missense_R938H exm986584 12 13764671 [T/C] NM_000834 GRIN2B EXON Missense_A590T exm986601 12 13769570 [T/A] NM_000834 GRIN2B EXON Missense_S383T exm-rs2160519 12 13787846 [T/C] NM_000834 GRIN2B Silent exm2250720 12 13870080 [A/G] NM_000834 GRIN2B Silent exm986610 12 13906449 [A/G] NM_000834 GRIN2B EXON Missense_A271V exm-rs4764039 12 14064461 [T/C] NM_000834 GRIN2B Silent exm2271688 12 14488914 [T/G] exm986641 12 14577193 [A/G] NM_018179 ATF7IP EXON Missense_H115R exm986644 12 14577265 [T/G] NM_018179 ATF7IP EXON Missense_L139R exm986646 12 14577288 [A/G] NM_018179 ATF7IP EXON Missense_G147R exm1760824 12 14577507 [A/G] NM_018179 ATF7IP EXON Missense_I220V exm986670 12 14577681 [A/G] NM_018179 ATF7IP EXON Missense_E278K exm986671 12 14577709 [A/G] NM_018179 ATF7IP EXON Missense_R287H exm986672 12 14577747 [G/C] NM_018179 ATF7IP EXON Missense_V300L exm986675 12 14577781 [A/G] NM_018179 ATF7IP EXON Missense_N311S exm986690 12 14578354 [T/C] NM_018179 ATF7IP EXON Missense_S502L exm986697 12 14587301 [A/G] NM_018179 ATF7IP EXON Missense_K530R exm986698 12 14587317 [C/G] NM_018179 ATF7IP EXON Missense_E535D exm986706 12 14589113 [C/G] NM_018179 ATF7IP EXON Missense_M573I exm986718 12 14609541 [T/C] NM_018179 ATF7IP EXON Missense_V681A exm986721 12 14610199 [T/C] NM_018179 ATF7IP EXON Missense_P710S exm986723 12 14613471 [A/G] NM_018179 ATF7IP EXON Missense_S734N exm986730 12 14613542 [A/G] NM_018179 ATF7IP EXON Missense_T758A exm986739 12 14613779 [T/C] NM_018179 ATF7IP EXON Missense_S837P exm986743 12 14613848 [A/G] NM_018179 ATF7IP EXON Missense_T860A exm986745 12 14613863 [T/C] NM_018179 ATF7IP EXON Missense_P865S exm986747 12 14613917 [A/C] NM_018179 ATF7IP EXON Missense_Q883K exm1760848 12 14614032 [G/C] NM_018179 ATF7IP EXON Missense_A921G exm986765 12 14631340 [T/C] NM_018179 ATF7IP EXON Missense_P1011S exm986772 12 14634050 [T/C] NM_018179 ATF7IP EXON Missense_P1071S exm-rs2900333 12 14653867 [T/C] exm986796 12 14656732 [A/G] NM_024829 PLBD1 EXON Missense_P546S exm986797 12 14656768 [G/C] NM_024829 PLBD1 EXON Missense_P534A exm986799 12 14656783 [C/G] NM_024829 PLBD1 EXON Missense_L529V exm986800 12 14656797 [T/C] NM_024829 PLBD1 EXON Missense_R524H exm986811 12 14659876 [A/G] NM_024829 PLBD1 EXON Nonsense_R455X exm986817 12 14659926 [T/C] NM_024829 PLBD1 EXON Missense_R438Q exm986830 12 14664250 [A/G] NM_024829 PLBD1 EXON Missense_V377A exm2271689 12 14678507 [T/G] NM_024829 PLBD1 Silent exm986841 12 14688644 [T/C] NM_024829 PLBD1 EXON Missense_V265I exm986852 12 14689638 [T/G] NM_024829 PLBD1 EXON Missense_T189P exm986856 12 14695176 [T/G] NM_024829 PLBD1 EXON Missense_P129T exm986857 12 14695181 [A/G] NM_024829 PLBD1 EXON Missense_T127M exm986866 12 14720554 [T/G] NM_024829 PLBD1 EXON Missense_P26Q exm2271822 12 14749972 [T/C] exm2220311 12 14766058 [T/C] NM_004963 GUCY2C EXON Missense_Y1072C exm986874 12 14766211 [T/C] NM_004963 GUCY2C EXON Missense_R1021H exm986881 12 14769646 [A/G] NM_004963 GUCY2C EXON Missense_V964A exm986889 12 14773976 [G/C] NM_004963 GUCY2C EXON Missense_G926R exm986901 12 14778715 [T/C] NM_004963 GUCY2C EXON Missense_R795K exm1760914 12 14778848 [C/G] NM_004963 GUCY2C EXON Missense_L751V exm1760925 12 14792851 [A/C] NM_004963 GUCY2C EXON Missense_M701R exm986922 12 14794017 [A/C] NM_004963 GUCY2C EXON Missense_N689K exm986924 12 14794058 [A/G] NM_004963 GUCY2C EXON Missense_R676W exm986928 12 14794126 [T/C] NM_004963 GUCY2C EXON Missense_R653H exm986931 12 14794144 [G/C] NM_004963 GUCY2C EXON Missense_T647R exm986940 12 14804342 [T/C] NM_004963 GUCY2C EXON Missense_R570Q exm986947 12 14804936 [T/C] NM_004963 GUCY2C EXON Missense_N521S exm986952 12 14813981 [A/G] NM_004963 GUCY2C EXON Missense_M433T exm986956 12 14822659 [A/G] NM_004963 GUCY2C EXON Missense_R427W exm986958 12 14822713 [T/A] NM_004963 GUCY2C EXON Missense_M409L exm986969 12 14827619 [T/G] NM_004963 GUCY2C EXON Missense_N342H exm986975 12 14829843 [A/G] NM_004963 GUCY2C EXON Missense_T298M exm986977 12 14829874 [C/G] NM_004963 GUCY2C EXON Missense_P288A exm987008 12 14839149 [T/C] NM_004963 GUCY2C EXON Missense_R114Q exm987024 12 14849327 [T/C] NM_004963 GUCY2C EXON Nonsense_W19X exm987025 12 14849334 [T/G] NM_004963 GUCY2C EXON Missense_P17T exm987062 12 14927610 [A/G] NM_177925,NR_027716 H2AFJ,H2AFJ EXON Missense_N69S,Silent exm987065 12 14927737 [G/C] NM_177925,NR_027716 H2AFJ,H2AFJ EXON Missense_N111K,Silent exm987078 12 14940283 [T/C] NM_016312 WBP11 EXON Missense_D548N exm987091 12 14943551 [A/G] NM_016312 WBP11 EXON Missense_T383I exm987113 12 14947995 [A/G] NM_016312 WBP11 EXON Missense_M144T exm987125 12 14958960 [T/C] NM_175874,NM_001013698 C12orf60,C12orf69 EXON Silent,Missense_T219A exm987128 12 14959074 [T/C] NM_175874,NM_001013698 C12orf60,C12orf69 EXON Silent,Missense_G181R exm987130 12 14959089 [T/C] NM_175874,NM_001013698 C12orf60,C12orf69 EXON Silent,Missense_V176I exm987139 12 14959284 [T/C] NM_175874,NM_001013698 C12orf60,C12orf69 EXON Silent,Missense_A111T exm987140 12 14959292 [A/T] NM_175874,NM_001013698 C12orf60,C12orf69 EXON Silent,Missense_D108V exm987147 12 14959391 [T/C] NM_175874,NM_001013698 C12orf60,C12orf69 EXON Silent,Missense_K75R exm987153 12 14959470 [A/G] NM_175874,NM_001013698 C12orf60,C12orf69 EXON Silent,Missense_C49R exm1761099 12 14959590 [A/G] NM_175874,NM_001013698 C12orf60,C12orf69 EXON Silent,Missense_P9S exm987164 12 14975984 [T/C] NM_175874 C12orf60 EXON Missense_R39C exm987166 12 14976021 [A/G] NM_175874 C12orf60 EXON Missense_K51R exm2276232 12 14976035 [A/G] NM_175874 C12orf60 EXON Missense_I56V exm987170 12 14976063 [A/G] NM_175874 C12orf60 EXON Missense_K65R exm987175 12 14976178 [A/T] NM_175874 C12orf60 EXON Missense_N103K exm987181 12 14976375 [T/C] NM_175874 C12orf60 EXON Missense_T169I exm2274569 12 14976419 [A/G] NM_175874 C12orf60 EXON Missense_M184V exm1761103 12 14976453 [T/C] NM_175874 C12orf60 EXON Missense_L195P exm987187 12 14976485 [T/C] NM_175874 C12orf60 EXON Missense_S206P exm987189 12 14976549 [A/G] NM_175874 C12orf60 EXON Missense_K227R exm1761106 12 14976571 [T/G] NM_175874 C12orf60 EXON Missense_M234I exm987200 12 14982352 [G/C] NM_021071 ART4 EXON Missense_L300V exm987202 12 14982379 [T/G] NM_021071 ART4 EXON Missense_I291L exm987208 12 14993439 [T/C] NM_021071 ART4 EXON Missense_D265N exm987212 12 14993535 [A/C] NM_021071 ART4 EXON Missense_G233C exm987222 12 14993666 [A/G] NM_021071 ART4 EXON Missense_T189M exm987226 12 14993762 [T/C] NM_021071 ART4 EXON Missense_K157R exm987227 12 14993777 [T/C] NM_021071 ART4 EXON Missense_R152H exm987228 12 14993778 [A/G] NM_021071 ART4 EXON Missense_R152C exm987229 12 14993787 [T/G] NM_021071 ART4 EXON Missense_Q149K exm987230 12 14993827 [T/G] NM_021071 ART4 EXON Missense_D135E exm987235 12 14993882 [A/G] NM_021071 ART4 EXON Missense_T117I exm987236 12 14993895 [A/G] NM_021071 ART4 EXON Nonsense_Q113X exm987237 12 14993909 [A/C] NM_021071 ART4 EXON Missense_G108V exm987241 12 14994015 [T/C] NM_021071 ART4 EXON Missense_V73I exm987242 12 14994047 [A/G] NM_021071 ART4 EXON Missense_F62S exm987247 12 14996026 [A/G] NM_021071 ART4 EXON Missense_C8R exm987248 12 14996040 [C/G] NM_021071 ART4 EXON Missense_P3R exm987253 12 15035081 [T/C] NM_000900,NM_001190839 MGP,MGP EXON Missense_T102A,Missense_T127A exm987254 12 15035086 [T/C] NM_000900,NM_001190839 MGP,MGP EXON Missense_R100Q,Missense_R125Q exm987261 12 15035919 [T/C] NM_000900,NM_001190839 MGP,MGP EXON Missense_K53E,Missense_K78E exm987272 12 15038683 [A/C] NM_000900,NM_001190839 MGP,MGP EXON Missense_V15L,Missense_V15L exm987275 12 15038703 [A/G] NM_000900,NM_001190839 MGP,MGP EXON Missense_A8V,Missense_A8V exm987286 12 15067680 [A/C] NM_152321 ERP27 EXON Missense_V271L exm1761127 12 15067690 [G/C] NM_152321 ERP27 EXON Missense_K267N exm987291 12 15068490 [T/G] NM_152321 ERP27 EXON Missense_P236H exm987298 12 15070152 [A/G] NM_152321 ERP27 EXON Missense_M179T exm987301 12 15070187 [T/C] NM_152321 ERP27 EXON Missense_I167M exm987303 12 15070220 [G/C] NM_152321 ERP27 EXON Missense_F156L exm987310 12 15073952 [T/C] NM_152321 ERP27 EXON Missense_E122K exm987322 12 15090927 [A/G] NM_152321 ERP27 EXON Missense_F52L exm987359 12 15102768 [T/C] NM_001175 ARHGDIB EXON Missense_S78N exm987361 12 15102799 [C/G] NM_001175 ARHGDIB EXON Missense_V68L exm987362 12 15102807 [A/G] NM_001175 ARHGDIB EXON Missense_P65L exm987378 12 15130981 [G/C] NM_006205 PDE6H EXON Nonsense_S12X exm987383 12 15134334 [A/G] NM_006205 PDE6H EXON Missense_D59G exm1761176 12 15134372 [A/C] NM_006205 PDE6H EXON Missense_L72M exm987391 12 15262120 [A/C] NM_032918,NM_001190726 RERG,RERG EXON Missense_G175V,Missense_G156V exm987413 12 15264345 [G/C] NM_032918,NM_001190726 RERG,RERG EXON Missense_T42S,Missense_T23S exm987416 12 15273998 [A/G] NM_032918,NM_001190726 RERG,RERG EXON Synonymous_L39L,Silent exm2271690 12 15332867 [T/C] NM_032918,NM_001190726 RERG,RERG Silent,Silent exm987438 12 15637092 [A/G] NM_002848,NM_030667 PTPRO,PTPRO EXON Missense_S87N,Missense_S87N exm987456 12 15652519 [T/C] NM_002848,NM_030667 PTPRO,PTPRO EXON Missense_H218Y,Missense_H218Y exm1761253 12 15654555 [T/C] NM_002848,NM_030667 PTPRO,PTPRO EXON Synonymous_A221A,Synonymous_A221A exm987458 12 15654574 [A/G] NM_002848,NM_030667 PTPRO,PTPRO EXON Missense_I228V,Missense_I228V exm987461 12 15654643 [A/T] NM_002848,NM_030667 PTPRO,PTPRO EXON Missense_S251T,Missense_S251T exm987468 12 15654977 [A/G] NM_002848,NM_030667 PTPRO,PTPRO EXON Missense_H362R,Missense_H362R exm987474 12 15656991 [A/G] NM_002848,NM_030667 PTPRO,PTPRO EXON Missense_S419G,Missense_S419G exm987478 12 15661564 [A/G] NM_002848,NM_030667 PTPRO,PTPRO EXON Missense_V443I,Missense_V443I exm987491 12 15669722 [T/G] NM_002848,NM_030667 PTPRO,PTPRO EXON Missense_M537I,Missense_M537I exm987493 12 15669742 [T/C] NM_002848,NM_030667 PTPRO,PTPRO EXON Missense_T544M,Missense_T544M exm2250732 12 15689951 [A/G] NM_002848,NM_030667 PTPRO,PTPRO Silent,Silent exm2250733 12 15699564 [A/G] NM_002848,NM_030667,NM_030668,NM_030669,NM_030671,NM_030670 PTPRO,PTPRO,PTPRO,PTPRO,PTPRO,PTPRO EXON Synonymous_L742L,Synonymous_L742L,Silent,Silent,Silent,Silent exm987537 12 15702119 [A/G] NM_002848,NM_030667,NM_030668,NM_030669,NM_030671,NM_030670 PTPRO,PTPRO,PTPRO,PTPRO,PTPRO,PTPRO EXON Missense_D799G,Missense_D799G,Silent,Silent,Silent,Silent exm2250734 12 15702129 [T/C] NM_002848,NM_030667,NM_030668,NM_030669,NM_030671,NM_030670 PTPRO,PTPRO,PTPRO,PTPRO,PTPRO,PTPRO EXON Synonymous_S802S,Synonymous_S802S,Silent,Silent,Silent,Silent exm2276233 12 15734702 [A/C] NM_002848,NM_030667,NM_030668,NM_030669,NM_030671,NM_030670 PTPRO,PTPRO,PTPRO,PTPRO,PTPRO,PTPRO EXON Missense_D1046E,Missense_D1074E,Missense_D235E,Missense_D263E,Missense_D263E,Missense_D235E exm1761304 12 15739836 [T/C] NM_002848,NM_030667,NM_030668,NM_030669,NM_030671,NM_030670 PTPRO,PTPRO,PTPRO,PTPRO,PTPRO,PTPRO EXON Synonymous_D1059D,Synonymous_D1087D,Synonymous_D248D,Synonymous_D276D,Synonymous_D276D,Synonymous_D248D exm2250735 12 15739836 [T/C] NM_002848,NM_030667,NM_030668,NM_030669,NM_030671,NM_030670 PTPRO,PTPRO,PTPRO,PTPRO,PTPRO,PTPRO EXON Synonymous_D1059D,Synonymous_D1087D,Synonymous_D248D,Synonymous_D276D,Synonymous_D276D,Synonymous_D248D exm987580 12 15742448 [A/G] NM_002848,NM_030667,NM_030668,NM_030669,NM_030671,NM_030670 PTPRO,PTPRO,PTPRO,PTPRO,PTPRO,PTPRO EXON Missense_R1129Q,Missense_R1157Q,Missense_R318Q,Missense_R346Q,Missense_R346Q,Missense_R318Q exm987581 12 15742508 [T/C] NM_002848,NM_030667,NM_030668,NM_030669,NM_030671,NM_030670 PTPRO,PTPRO,PTPRO,PTPRO,PTPRO,PTPRO EXON Missense_S1149F,Missense_S1177F,Missense_S338F,Missense_S366F,Missense_S366F,Missense_S338F exm987583 12 15747886 [A/G] NM_002848,NM_030667,NM_030668,NM_030669,NM_030671,NM_030670 PTPRO,PTPRO,PTPRO,PTPRO,PTPRO,PTPRO EXON Missense_I1160V,Missense_I1188V,Missense_I349V,Missense_I377V,Missense_I377V,Missense_I349V exm2267418 12 15750391 [A/G] NM_002848,NM_030667,NM_030668,NM_030669,NM_030671,NM_030670 PTPRO,PTPRO,PTPRO,PTPRO,PTPRO,PTPRO EXON Silent,Silent,Silent,Silent,Silent,Silent exm987595 12 15774350 [C/G] NM_004447 EPS8 EXON Missense_S790R exm987599 12 15776164 [A/C] NM_004447 EPS8 EXON Missense_D761E exm987600 12 15776171 [T/C] NM_004447 EPS8 EXON Missense_N759S exm987602 12 15776217 [T/C] NM_004447 EPS8 EXON Missense_V744I exm987603 12 15776223 [T/A] NM_004447 EPS8 Silent exm987605 12 15777209 [A/G] NM_004447 EPS8 EXON Missense_T726I exm987609 12 15777273 [T/C] NM_004447 EPS8 EXON Missense_A705T exm1761343 12 15777282 [A/G] NM_004447 EPS8 EXON Missense_R702W exm987611 12 15777287 [A/G] NM_004447 EPS8 EXON Missense_I700T exm987617 12 15784453 [T/C] NM_004447 EPS8 EXON Missense_R656H exm987622 12 15784544 [T/G] NM_004447 EPS8 EXON Missense_P626T exm987629 12 15784582 [T/C] NM_004447 EPS8 EXON Missense_Y613C exm987630 12 15784598 [T/G] NM_004447 EPS8 EXON Missense_K608Q exm987640 12 15794751 [A/G] NM_004447 EPS8 EXON Missense_L528F exm987641 12 15800067 [A/G] NM_004447 EPS8 EXON Missense_I521T exm987643 12 15800074 [A/G] NM_004447 EPS8 EXON Missense_R519C exm987653 12 15803861 [A/G] NM_004447 EPS8 EXON Missense_F444L exm987670 12 15811071 [T/C] NM_004447 EPS8 EXON Missense_H348R exm987676 12 15811507 [A/G] NM_004447 EPS8 EXON Missense_T317M exm2274570 12 15813614 [A/C] NM_004447 EPS8 EXON Missense_A291S exm1761405 12 15818690 [A/G] NM_004447 EPS8 EXON Missense_F246L exm987683 12 15818780 [G/C] NM_004447 EPS8 EXON Missense_P216A exm987687 12 15819384 [T/C] NM_004447 EPS8 EXON Missense_D197N exm987700 12 15823797 [T/C] NM_004447 EPS8 EXON Missense_R66H exm987702 12 15834192 [T/C] NM_004447 EPS8 EXON Missense_H35R exm-rs17415853 12 15930805 [T/C] NM_004447 EPS8 Silent exm987707 12 16035648 [A/G] NM_007178 STRAP EXON Missense_M3V exm987710 12 16035712 [A/G] NM_007178 STRAP EXON Missense_G24D exm987718 12 16043532 [A/G] NM_007178 STRAP EXON Missense_D111G exm987721 12 16043590 [A/C] NM_007178 STRAP EXON Missense_N130K exm987725 12 16048325 [A/G] NM_007178 STRAP EXON Missense_K178R exm987726 12 16048334 [A/C] NM_007178 STRAP EXON Missense_N181T exm987731 12 16052839 [A/G] NM_007178 STRAP EXON Synonymous_E259E exm987742 12 16055852 [A/C] NM_007178 STRAP EXON Missense_E331D exm2267419 12 16062450 [A/G] exm2250740 12 16109949 [T/C] NM_015954 DERA EXON Synonymous_T37T exm987764 12 16111231 [A/G] NM_015954 DERA EXON Missense_R80Q exm987804 12 16342622 [A/G] NM_001170798 SLC15A5 EXON Missense_L574F exm987807 12 16347327 [T/G] NM_001170798 SLC15A5 EXON Missense_A515E exm987808 12 16347342 [A/C] NM_001170798 SLC15A5 EXON Missense_F510C exm987810 12 16369828 [T/A] NM_001170798 SLC15A5 EXON Missense_D494E exm987811 12 16369907 [A/G] NM_001170798 SLC15A5 EXON Missense_M468T exm987821 12 16392788 [T/C] NM_001170798 SLC15A5 EXON Missense_Y330C exm987825 12 16397677 [A/G] NM_001170798 SLC15A5 EXON Missense_P271L exm987828 12 16397734 [A/C] NM_001170798 SLC15A5 EXON Missense_R252L exm2271691 12 16400613 [T/C] NM_001170798 SLC15A5 Silent exm987834 12 16425656 [T/A] NM_001170798 SLC15A5 EXON Missense_H141Q exm987843 12 16430390 [T/C] NM_001170798 SLC15A5 EXON Missense_C77Y exm987844 12 16430451 [A/T] NM_001170798 SLC15A5 EXON Missense_F57I exm987854 12 16507311 [A/G] NM_145792,NM_020300,NM_001260511,NM_001260512,NR_048545,NM_001267598,NR_048547,NM_145791,NM_145764 MGST1,MGST1,MGST1,MGST1,MGST1,MGST1,MGST1,MGST1,MGST1 EXON Missense_K42R,Missense_K42R,Missense_K42R,Missense_K42R,Silent,Missense_K42R,Silent,Missense_K42R,Missense_K42R exm987857 12 16510615 [A/G] NM_145792,NM_020300,NM_001260511,NM_001260512,NR_048545,NM_001267598,NR_048547,NM_145791,NM_145764 MGST1,MGST1,MGST1,MGST1,MGST1,MGST1,MGST1,MGST1,MGST1 EXON Missense_R68K,Missense_R68K,Missense_R68K,Missense_R68K,Silent,Missense_R68K,Silent,Missense_R68K,Missense_R68K exm2271692 12 16937829 [T/C] exm2271823 12 17028884 [T/G] exm2264490 12 17319646 [A/C] exm-rs9971637 12 17373739 [A/G] exm-rs1355696 12 17424512 [A/G] exm2267325 12 17653834 [A/G] exm2267326 12 17903344 [A/G] exm987898 12 18234254 [T/C] NM_024730 RERGL EXON Missense_M163I exm987899 12 18234256 [T/C] NM_024730 RERGL EXON Missense_M163V exm987904 12 18234370 [A/G] NM_024730 RERGL EXON Nonsense_R125X exm987905 12 18234381 [A/G] NM_024730 RERGL EXON Missense_V121A exm987906 12 18234391 [A/C] NM_024730 RERGL EXON Missense_V118L exm987909 12 18237466 [A/G] NM_024730 RERGL EXON Missense_T107I exm987910 12 18237478 [T/C] NM_024730 RERGL EXON Missense_R103Q exm987914 12 18237530 [T/C] NM_024730 RERGL EXON Missense_I86V exm1761902 12 18237531 [T/G] NM_024730 RERGL EXON Missense_D85E exm987917 12 18237551 [T/C] NM_024730 RERGL EXON Missense_G79R exm987941 12 18435035 [T/C] NM_004570 PIK3C2G EXON Missense_T7M exm987943 12 18435037 [T/G] NM_004570 PIK3C2G EXON Missense_D8Y exm987947 12 18435145 [A/G] NM_004570 PIK3C2G EXON Missense_V44I exm987948 12 18435151 [A/G] NM_004570 PIK3C2G EXON Missense_E46K exm987950 12 18435220 [T/C] NM_004570 PIK3C2G EXON Missense_P69S exm2220324 12 18435260 [A/G] NM_004570 PIK3C2G EXON Missense_H82R exm987956 12 18435379 [A/C] NM_004570 PIK3C2G EXON Missense_K122Q exm987962 12 18435452 [T/C] NM_004570 PIK3C2G EXON Missense_P146L exm987964 12 18435491 [A/G] NM_004570 PIK3C2G EXON Missense_E159G exm987968 12 18435548 [T/C] NM_004570 PIK3C2G EXON Missense_T178I exm1761914 12 18435554 [A/C] NM_004570 PIK3C2G EXON Nonsense_S180X exm987972 12 18435620 [T/A] NM_004570 PIK3C2G EXON Missense_E202V exm987973 12 18435662 [A/T] NM_004570 PIK3C2G EXON Missense_M216K exm987975 12 18439781 [A/T] NM_004570 PIK3C2G EXON Missense_S227T exm987982 12 18443809 [A/C] NM_004570 PIK3C2G EXON Missense_A261E exm987996 12 18446924 [T/G] NM_004570 PIK3C2G EXON Missense_C337G exm988005 12 18473932 [C/G] NM_004570 PIK3C2G EXON Missense_L392V exm988007 12 18473941 [T/C] NM_004570 PIK3C2G EXON Missense_F395L exm2267327 12 18487862 [A/G] NM_004570 PIK3C2G Silent exm2271824 12 18489408 [T/C] NM_004570 PIK3C2G Silent exm988018 12 18491459 [A/C] NM_004570 PIK3C2G EXON Missense_L458I exm988021 12 18499607 [A/G] NM_004570 PIK3C2G EXON Missense_T488A exm988023 12 18499628 [A/G] NM_004570 PIK3C2G EXON Missense_N495D exm988024 12 18499629 [A/T] NM_004570 PIK3C2G EXON Missense_N495I exm988027 12 18499771 [A/G] NM_004570 PIK3C2G Silent exm988034 12 18534719 [A/T] NM_004570 PIK3C2G EXON Missense_M593L exm988040 12 18544179 [T/C] NM_004570 PIK3C2G EXON Missense_P666S exm988041 12 18544186 [T/C] NM_004570 PIK3C2G EXON Missense_L668P exm988044 12 18552594 [T/C] NM_004570 PIK3C2G EXON Missense_L669F exm988045 12 18552615 [T/C] NM_004570 PIK3C2G EXON Missense_Y676H exm988054 12 18552733 [C/G] NM_004570 PIK3C2G EXON Missense_R715T exm988056 12 18552760 [G/C] NM_004570 PIK3C2G EXON Missense_A724G exm988061 12 18576899 [A/C] NM_004570 PIK3C2G EXON Missense_N769K exm988067 12 18641439 [T/C] NM_004570 PIK3C2G EXON Missense_L813P exm988078 12 18649003 [G/C] NM_004570 PIK3C2G EXON Nonsense_S893X exm988079 12 18649057 [T/C] NM_004570 PIK3C2G EXON Missense_P911L exm988091 12 18656259 [T/C] NM_004570 PIK3C2G EXON Missense_H980Y exm988098 12 18658248 [T/C] NM_004570 PIK3C2G EXON Missense_S1018F exm988106 12 18691094 [T/C] NM_004570 PIK3C2G EXON Nonsense_R1069X exm988115 12 18699323 [T/C] NM_004570 PIK3C2G EXON Missense_R1142C exm988119 12 18715717 [T/G] NM_004570 PIK3C2G EXON Missense_S1183I exm988125 12 18715827 [A/G] NM_004570 PIK3C2G Silent exm988130 12 18719887 [T/C] NM_004570 PIK3C2G EXON Missense_P1262S exm988131 12 18719972 [T/G] NM_004570 PIK3C2G EXON Missense_V1290G exm988142 12 18793370 [G/C] NM_004570 PIK3C2G EXON Missense_P1356R exm988143 12 18793382 [T/C] NM_004570 PIK3C2G EXON Missense_A1360V exm988146 12 18793457 [T/C] NM_004570 PIK3C2G EXON Missense_P1385L exm988149 12 18800862 [T/C] NM_004570 PIK3C2G EXON Missense_V1413A exm988152 12 18800921 [A/G] NM_004570 PIK3C2G EXON Missense_D1433N exm988153 12 18800961 [C/G] NM_004570 PIK3C2G EXON Missense_X1446S exm988163 12 18841115 [A/G] NR_073075,NM_033123 PLCZ1,PLCZ1 EXON Silent,Missense_S500L exm988170 12 18849084 [G/C] NR_073075,NM_033123 PLCZ1,PLCZ1 EXON Silent,Missense_V431L exm988174 12 18849176 [T/C] NR_073075,NM_033123 PLCZ1,PLCZ1 EXON Silent,Missense_R400K exm988175 12 18852731 [A/G] NR_073075,NM_033123 PLCZ1,PLCZ1 EXON Silent,Nonsense_R391X exm988178 12 18852835 [A/G] NR_073075,NM_033123 PLCZ1,PLCZ1 EXON Silent,Missense_T356M exm988185 12 18854628 [T/C] NR_073075,NM_033123 PLCZ1,PLCZ1 EXON Silent,Missense_R316H exm988187 12 18854638 [T/A] NR_073075,NM_033123 PLCZ1,PLCZ1 EXON Silent,Missense_S313T exm988198 12 18865792 [T/A] NR_073075,NM_033123 PLCZ1,PLCZ1 EXON Silent,Missense_H233L exm988199 12 18865819 [A/G] NR_073075,NM_033123 PLCZ1,PLCZ1 EXON Silent,Missense_L224P exm988208 12 18872513 [A/G] NR_073075,NM_033123 PLCZ1,PLCZ1 EXON Silent,Missense_R141C exm988212 12 18876252 [G/C] NR_073075,NM_033123 PLCZ1,PLCZ1 EXON Silent,Missense_I120M exm988223 12 18876391 [A/G] NR_073075,NM_033123 PLCZ1,PLCZ1 EXON Silent,Missense_I74T exm2250757 12 18889271 [A/G] NR_073075,NM_033123 PLCZ1,PLCZ1 EXON Silent,Synonymous_L7L exm988242 12 18891215 [A/G] NM_033328 CAPZA3 EXON Missense_V5M exm988247 12 18891317 [T/C] NM_033328 CAPZA3 EXON Missense_R39C exm988248 12 18891318 [A/G] NM_033328 CAPZA3 EXON Missense_R39H exm988252 12 18891440 [A/G] NM_033328 CAPZA3 EXON Missense_D80N exm988260 12 18891660 [T/C] NM_033328 CAPZA3 EXON Missense_A153V exm988263 12 18891687 [A/C] NM_033328 CAPZA3 EXON Missense_T162K exm988264 12 18891703 [A/C] NM_033328 CAPZA3 EXON Missense_N167K exm988270 12 18891858 [T/C] NM_033328 CAPZA3 EXON Missense_A219V exm988273 12 18891884 [T/C] NM_033328 CAPZA3 EXON Missense_L228F exm988276 12 18891921 [T/C] NM_033328 CAPZA3 EXON Missense_V240A exm988277 12 18891976 [G/C] NM_033328 CAPZA3 EXON Missense_R258S exm988278 12 18891995 [A/G] NM_033328 CAPZA3 EXON Missense_T265A exm988281 12 18892040 [A/C] NM_033328 CAPZA3 EXON Missense_M280L exm2271825 12 19028431 [T/C] exm2271693 12 19104356 [T/C] exm1762171 12 19282743 [A/G] NM_001190860,NM_019012,NM_001143821,NM_001256470 PLEKHA5,PLEKHA5,PLEKHA5,PLEKHA5 EXON Missense_D4N,Missense_D4N,Missense_D4N,Missense_D4N exm988299 12 19408017 [A/G] NM_019012,NM_001143821,NM_001256470,NM_001256787 PLEKHA5,PLEKHA5,PLEKHA5,PLEKHA5 EXON Missense_R117Q,Missense_R117Q,Missense_R117Q,Missense_R9Q exm988314 12 19427514 [A/G] NM_019012,NM_001143821,NM_001256470,NM_001256787 PLEKHA5,PLEKHA5,PLEKHA5,PLEKHA5 EXON Missense_V298M,Missense_V298M,Missense_V304M,Missense_V190M exm988321 12 19427764 [T/C] NM_019012,NM_001143821,NM_001256470,NM_001256787 PLEKHA5,PLEKHA5,PLEKHA5,PLEKHA5 EXON Missense_V381A,Missense_V381A,Missense_V387A,Missense_V273A exm988322 12 19427766 [A/G] NM_019012,NM_001143821,NM_001256470,NM_001256787 PLEKHA5,PLEKHA5,PLEKHA5,PLEKHA5 EXON Missense_S382G,Missense_S382G,Missense_S388G,Missense_S274G exm988374 12 19475601 [T/C] NM_019012,NM_001143821,NM_001256470,NM_001256787 PLEKHA5,PLEKHA5,PLEKHA5,PLEKHA5 EXON Synonymous_A713A,Synonymous_A771A,Synonymous_A816A,Synonymous_A632A exm988380 12 19489539 [A/G] NM_019012,NM_001143821,NM_001256470,NM_001256787 PLEKHA5,PLEKHA5,PLEKHA5,PLEKHA5 EXON Missense_G744S,Missense_G802S,Missense_G847S,Missense_G663S exm988398 12 19511289 [T/G] NM_019012,NM_001143821,NM_001256470,NM_001256787 PLEKHA5,PLEKHA5,PLEKHA5,PLEKHA5 EXON Missense_G923V,Missense_G981V,Missense_G1089V,Missense_G905V exm988401 12 19511361 [C/G] NM_019012,NM_001143821,NM_001256470,NM_001256787 PLEKHA5,PLEKHA5,PLEKHA5,PLEKHA5 EXON Missense_R947T,Missense_R1005T,Missense_R1113T,Missense_R929T exm988405 12 19512451 [A/G] NM_019012,NM_001143821,NM_001256470,NM_001256787 PLEKHA5,PLEKHA5,PLEKHA5,PLEKHA5 EXON Missense_E986K,Missense_E1044K,Missense_E1152K,Missense_E968K exm1762322 12 19514615 [A/G] NM_019012,NM_001143821,NM_001256470,NM_001256787 PLEKHA5,PLEKHA5,PLEKHA5,PLEKHA5 EXON Missense_K1029E,Missense_K1087E,Missense_K1195E,Missense_K1011E exm988411 12 19518898 [T/C] NM_019012,NM_001143821,NM_001256470,NM_001256787 PLEKHA5,PLEKHA5,PLEKHA5,PLEKHA5 EXON Synonymous_S1037S,Synonymous_S1095S,Synonymous_S1203S,Synonymous_S1019S exm988412 12 19518899 [T/C] NM_019012,NM_001143821,NM_001256470,NM_001256787 PLEKHA5,PLEKHA5,PLEKHA5,PLEKHA5 EXON Missense_P1038S,Missense_P1096S,Missense_P1204S,Missense_P1020S exm988415 12 19519002 [A/C] NM_019012,NM_001143821,NM_001256470,NM_001256787 PLEKHA5,PLEKHA5,PLEKHA5,PLEKHA5 EXON Missense_E1072A,Missense_E1130A,Missense_E1238A,Missense_E1054A exm2250759 12 19573650 [A/G] exm2271694 12 20097565 [T/C] exm2267420 12 20154110 [A/G] exm-rs10770612 12 20230639 [A/G] NR_040098 LOC100506393 Silent exm-rs7134375 12 20473758 [A/C] exm-rs10841496 12 20521654 [A/C] exm988453 12 20522252 [A/G] NM_000921 PDE3A EXON Missense_D12N exm988470 12 20522723 [T/G] NM_000921 PDE3A EXON Missense_G169W exm988479 12 20522796 [T/C] NM_000921 PDE3A EXON Missense_V193A exm988483 12 20522832 [T/G] NM_000921 PDE3A EXON Missense_V205G exm988484 12 20522835 [T/C] NM_000921 PDE3A EXON Missense_L206P exm988490 12 20522979 [A/G] NM_000921 PDE3A EXON Missense_Y254C exm988493 12 20523050 [A/G] NM_000921 PDE3A EXON Missense_G278R exm988497 12 20523123 [A/G] NM_000921 PDE3A EXON Missense_G302D exm-rs1348582 12 20531756 [T/C] NM_000921 PDE3A Silent exm-rs10770658 12 20586821 [A/G] NM_000921 PDE3A Silent exm2250767 12 20605116 [A/G] NM_000921 PDE3A Silent exm-rs11611208 12 20758613 [A/G] NM_000921,NM_001244683 PDE3A,PDE3A Silent,Silent exm988504 12 20766410 [A/G] NM_000921,NM_001244683 PDE3A,PDE3A EXON Missense_V349I,Missense_V27I exm988523 12 20769270 [A/G] NM_000921,NM_001244683 PDE3A,PDE3A EXON Missense_R459Q,Missense_R137Q exm1762742 12 20774295 [A/G] NM_000921,NM_001244683 PDE3A,PDE3A EXON Missense_Y497C,Missense_Y175C exm2274571 12 20774317 [A/T] NM_000921,NM_001244683 PDE3A,PDE3A EXON Missense_H504Q,Missense_H182Q exm988542 12 20786667 [A/C] NM_000921,NM_001244683 PDE3A,PDE3A EXON Missense_P601T,Missense_P279T exm988546 12 20786685 [T/G] NM_000921,NM_001244683 PDE3A,PDE3A EXON Missense_V607L,Missense_V285L exm988548 12 20786703 [A/G] NM_000921,NM_001244683 PDE3A,PDE3A EXON Missense_S613G,Missense_S291G exm988563 12 20799739 [A/G] NM_000921,NM_001244683 PDE3A,PDE3A EXON Missense_Y807C,Missense_Y485C exm988564 12 20799753 [A/G] NM_000921,NM_001244683 PDE3A,PDE3A EXON Missense_D812N,Missense_D490N exm988586 12 20833063 [A/G] NM_000921,NM_001244683 PDE3A,PDE3A EXON Missense_R1095Q,Missense_R773Q exm988587 12 20833068 [A/G] NM_000921,NM_001244683 PDE3A,PDE3A EXON Missense_A1097T,Missense_A775T exm-rs10770705 12 20857467 [A/C] NM_001145945,NM_001145946,NM_017435,NM_001145944 SLCO1C1,SLCO1C1,SLCO1C1,SLCO1C1 Silent,Silent,Silent,Silent exm2220343 12 20858967 [T/C] NM_001145945,NM_001145946,NM_017435,NM_001145944 SLCO1C1,SLCO1C1,SLCO1C1,SLCO1C1 EXON Missense_M119T,Missense_M119T,Missense_M119T,Missense_M1T exm988607 12 20864342 [A/C] NM_001145945,NM_001145946,NM_017435,NM_001145944 SLCO1C1,SLCO1C1,SLCO1C1,SLCO1C1 EXON Missense_P143T,Missense_P143T,Missense_P143T,Missense_P25T exm2220344 12 20864443 [T/C] NM_001145945,NM_001145946,NM_017435,NM_001145944 SLCO1C1,SLCO1C1,SLCO1C1,SLCO1C1 EXON Synonymous_N176N,Synonymous_N176N,Synonymous_N176N,Synonymous_N58N exm988629 12 20874889 [T/G] NM_001145945,NM_001145946,NM_017435,NM_001145944 SLCO1C1,SLCO1C1,SLCO1C1,SLCO1C1 EXON Missense_N260K,Missense_N309K,Missense_N309K,Missense_N191K exm988640 12 20876168 [T/C] NM_001145945,NM_001145946,NM_017435,NM_001145944 SLCO1C1,SLCO1C1,SLCO1C1,SLCO1C1 EXON Missense_S340F,Missense_S389F,Missense_S389F,Missense_S271F exm1762852 12 20890066 [T/C] NM_001145945,NM_001145946,NM_017435,NM_001145944 SLCO1C1,SLCO1C1,SLCO1C1,SLCO1C1 EXON Nonsense_R421X,Nonsense_R470X,Nonsense_R470X,Nonsense_R352X exm988659 12 20893259 [A/G] NM_001145945,NM_001145946,NM_017435,NM_001145944 SLCO1C1,SLCO1C1,SLCO1C1,SLCO1C1 EXON Missense_T515A,Missense_T564A,Missense_T564A,Missense_T446A exm988675 12 20905250 [T/C] NM_001145945,NM_001145946,NM_017435,NM_001145944 SLCO1C1,SLCO1C1,SLCO1C1,SLCO1C1 EXON Synonymous_L594L,Missense_S677F,Synonymous_L643L,Missense_S559F exm988678 12 20905279 [T/G] NM_001145945,NM_001145946,NM_017435,NM_001145944 SLCO1C1,SLCO1C1,SLCO1C1,SLCO1C1 EXON Synonymous_V603V,Missense_V687F,Synonymous_V652V,Missense_V569F exm988679 12 20905322 [T/A] NM_001145945,NM_001145946,NM_017435,NM_001145944 SLCO1C1,SLCO1C1,SLCO1C1,SLCO1C1 EXON Missense_N618Y,Missense_K701I,Missense_N667Y,Missense_K583I exm988680 12 20905325 [T/C] NM_001145945,NM_001145946,NM_017435,NM_001145944 SLCO1C1,SLCO1C1,SLCO1C1,SLCO1C1 EXON Missense_Y619H,Missense_L702S,Missense_Y668H,Missense_L584S exm988683 12 20905437 [A/G] NM_001145945,NM_001145946,NM_017435,NM_001145944 SLCO1C1,SLCO1C1,SLCO1C1,SLCO1C1 EXON Nonsense_W656X,Silent,Nonsense_W705X,Silent exm988685 12 20905461 [A/T] NM_001145945,NM_001145946,NM_017435,NM_001145944 SLCO1C1,SLCO1C1,SLCO1C1,SLCO1C1 EXON Missense_X664L,Silent,Missense_X713L,Silent exm2220346 12 20963638 [A/G] NM_019844 SLCO1B3 EXON Silent exm988702 12 21007985 [C/G] NM_019844 SLCO1B3 EXON Missense_F36L exm988705 12 21008031 [A/G] NM_019844 SLCO1B3 EXON Missense_I52V exm988712 12 21011480 [T/G] NM_019844 SLCO1B3 EXON Missense_S112A exm1762919 12 21011481 [A/C] NM_019844 SLCO1B3 EXON Missense_S112Y exm988720 12 21014030 [A/G] NM_019844 SLCO1B3 EXON Missense_T147A exm988726 12 21015348 [T/G] NM_019844 SLCO1B3 EXON Missense_C162G exm988736 12 21015706 [A/G] NM_019844 SLCO1B3 EXON Missense_I215M exm988737 12 21015737 [C/G] NM_019844 SLCO1B3 EXON Missense_L226V exm988739 12 21015760 [A/G] NM_019844 SLCO1B3 EXON Missense_M233I exm988760 12 21030723 [A/G] NM_019844 SLCO1B3 EXON Missense_K330E exm2220348 12 21030871 [A/G] NM_019844 SLCO1B3 Silent exm988776 12 21032486 [T/C] NM_019844 SLCO1B3 EXON Missense_S418P exm988781 12 21032543 [A/G] NM_019844 SLCO1B3 EXON Missense_G437S exm988786 12 21033823 [T/C] NM_019844 SLCO1B3 EXON Missense_L456F exm988796 12 21036442 [T/C] NM_019844 SLCO1B3 EXON Missense_C530R exm988799 12 21036464 [A/G] NM_019844 SLCO1B3 EXON Missense_Y537C exm988803 12 21036533 [T/C] NM_019844 SLCO1B3 EXON Missense_V560A exm988812 12 21054391 [A/G] NM_019844 SLCO1B3 EXON Missense_V619I exm988819 12 21069048 [T/C] NM_019844 SLCO1B3 EXON Missense_S659L exm-rs2117032 12 21074122 [T/C] exm2271826 12 21098302 [T/C] exm988826 12 21172285 [C/G] NM_001009562 SLCO1B7 EXON Missense_L63F exm988831 12 21174496 [T/C] NM_001009562 SLCO1B7 EXON Missense_P107L exm988833 12 21175782 [A/G] NM_001009562 SLCO1B7 Silent exm988839 12 21176135 [T/C] NM_001009562 SLCO1B7 EXON Missense_V167A exm988845 12 21196331 [T/C] NM_001009562 SLCO1B7 EXON Missense_V217A exm988850 12 21196424 [A/T] NM_001009562 SLCO1B7 EXON Missense_F248Y exm988856 12 21196511 [A/G] NM_001009562 SLCO1B7 Silent exm988859 12 21200019 [A/C] NM_001009562 SLCO1B7 EXON Missense_N288H exm988862 12 21200089 [A/G] NM_001009562 SLCO1B7 EXON Missense_Y311C exm988865 12 21200110 [A/G] NM_001009562 SLCO1B7 EXON Missense_Q318R exm988868 12 21200139 [A/G] NM_001009562 SLCO1B7 EXON Missense_N328D exm988869 12 21200143 [T/G] NM_001009562 SLCO1B7 EXON Missense_F329C exm988870 12 21201654 [A/G] NM_001009562 SLCO1B7 EXON Missense_A335T exm988872 12 21201663 [A/G] NM_001009562 SLCO1B7 EXON Missense_A338T exm988873 12 21201666 [G/C] NM_001009562 SLCO1B7 EXON Missense_V339L exm1763031 12 21201712 [A/G] NM_001009562 SLCO1B7 EXON Missense_K354R exm988876 12 21201832 [T/C] NM_001009562 SLCO1B7 EXON Missense_T394I exm988882 12 21205122 [A/G] NM_001009562 SLCO1B7 EXON Missense_G428E exm988887 12 21207389 [T/C] NM_001009562 SLCO1B7 EXON Missense_F454L exm988889 12 21207472 [A/T] NM_001009562 SLCO1B7 EXON Missense_D481E exm988890 12 21207479 [A/T] NM_001009562 SLCO1B7 EXON Missense_T484S exm988902 12 21229456 [G/C] NM_001009562 SLCO1B7 EXON Missense_S559R exm988904 12 21229494 [T/C] NM_001009562 SLCO1B7 EXON Missense_T572I exm988906 12 21242855 [A/G] NM_001009562 SLCO1B7 EXON Missense_G580S exm988908 12 21242911 [A/T] NM_001009562 SLCO1B7 EXON Missense_F598L exm988912 12 21243017 [A/G] NM_001009562 SLCO1B7 EXON Missense_V634I exm988913 12 21243035 [A/C] NM_001009562 SLCO1B7 EXON Missense_Q640K exm-rs4149032 12 21317791 [T/C] NM_006446 SLCO1B1 Silent exm988924 12 21325669 [A/G] NM_006446 SLCO1B1 EXON Missense_R57Q exm2250771 12 21325709 [T/C] NM_006446 SLCO1B1 EXON Synonymous_D70D exm988929 12 21327582 [A/G] NM_006446 SLCO1B1 EXON Missense_G100S exm988930 12 21327601 [T/C] NM_006446 SLCO1B1 EXON Missense_I106T exm988933 12 21329738 [A/G] NM_006446 SLCO1B1 EXON Missense_N130D exm988935 12 21329805 [C/G] NM_006446 SLCO1B1 EXON Missense_R152T exm988936 12 21329813 [A/C] NM_006446 SLCO1B1 EXON Missense_P155T exm988938 12 21329832 [T/G] NM_006446 SLCO1B1 Silent exm988941 12 21331546 [A/G] NM_006446 SLCO1B1 EXON Missense_Y173C exm988942 12 21331549 [T/C] NM_006446 SLCO1B1 EXON Missense_V174A exm2271695 12 21331625 [T/C] NM_006446 SLCO1B1 EXON Synonymous_F199F exm988951 12 21331858 [A/C] NM_006446 SLCO1B1 EXON Missense_I211L exm988952 12 21331860 [A/G] NM_006446 SLCO1B1 EXON Missense_I211M exm988956 12 21331891 [A/G] NM_006446 SLCO1B1 EXON Missense_I222V exm988983 12 21349885 [A/G] NM_006446 SLCO1B1 EXON Missense_I245V exm988985 12 21349910 [A/G] NM_006446 SLCO1B1 EXON Missense_R253Q exm988998 12 21353505 [T/C] NM_006446 SLCO1B1 EXON Missense_T345M exm989003 12 21353551 [G/C] NM_006446 SLCO1B1 EXON Missense_F360L exm989006 12 21355489 [C/G] NM_006446 SLCO1B1 EXON Missense_F400L exm989012 12 21355598 [A/G] NM_006446 SLCO1B1 EXON Missense_G437R exm989015 12 21355611 [A/C] NM_006446 SLCO1B1 EXON Missense_T441N exm989020 12 21358933 [G/C] NM_006446 SLCO1B1 EXON Missense_G488A exm989023 12 21358965 [A/G] NM_006446 SLCO1B1 EXON Missense_I499V exm-rs4363657 12 21368722 [T/C] NM_006446 SLCO1B1 Silent exm989043 12 21377774 [A/G] NM_006446 SLCO1B1 Silent exm989046 12 21391976 [A/C] NM_006446 SLCO1B1 EXON Missense_L643F exm989049 12 21392079 [T/C] NM_006446 SLCO1B1 EXON Missense_H678Y exm1763111 12 21392092 [T/C] NM_006446 SLCO1B1 EXON Missense_S682F exm989056 12 21422492 [C/G] NM_021094,NM_134431 SLCO1A2,SLCO1A2 EXON Missense_T668S,Missense_T668S exm989057 12 21422519 [A/G] NM_021094,NM_134431 SLCO1A2,SLCO1A2 EXON Missense_T659M,Missense_T659M exm989058 12 21422553 [T/C] NM_021094,NM_134431 SLCO1A2,SLCO1A2 EXON Missense_E648K,Missense_E648K exm1763129 12 21427515 [T/C] NM_021094,NM_134431 SLCO1A2,SLCO1A2 EXON Missense_I561V,Missense_I561V exm989075 12 21445129 [G/C] NM_021094,NM_134431 SLCO1A2,SLCO1A2 EXON Missense_A527P,Missense_A527P exm989082 12 21446892 [A/G] NM_021094,NM_134431 SLCO1A2,SLCO1A2 EXON Missense_T475M,Missense_T475M exm989084 12 21446935 [A/G] NM_021094,NM_134431 SLCO1A2,SLCO1A2 EXON Missense_Y461H,Missense_Y461H exm989087 12 21446969 [T/C] NM_021094,NM_134431 SLCO1A2,SLCO1A2 EXON Missense_I449M,Missense_I449M exm989091 12 21448555 [A/T] NM_021094,NM_134431 SLCO1A2,SLCO1A2 EXON Missense_V416D,Missense_V416D exm989092 12 21448556 [T/C] NM_021094,NM_134431 SLCO1A2,SLCO1A2 EXON Missense_V416I,Missense_V416I exm989094 12 21448588 [A/G] NM_021094,NM_134431 SLCO1A2,SLCO1A2 EXON Missense_S405F,Missense_S405F exm989095 12 21448604 [T/G] NM_021094,NM_134431 SLCO1A2,SLCO1A2 EXON Missense_L400I,Missense_L400I exm989100 12 21450350 [T/C] NM_021094,NM_134431 SLCO1A2,SLCO1A2 EXON Missense_I355V,Missense_I355V exm989102 12 21450445 [A/G] NM_021094,NM_134431 SLCO1A2,SLCO1A2 EXON Missense_L323P,Missense_L323P exm989106 12 21453328 [T/G] NM_021094,NM_134431 SLCO1A2,SLCO1A2 EXON Missense_D288E,Missense_D288E exm989107 12 21453351 [T/C] NM_021094,NM_134431 SLCO1A2,SLCO1A2 EXON Missense_I281V,Missense_I281V exm1763152 12 21454123 [T/C] NM_021094,NM_134431 SLCO1A2,SLCO1A2 EXON Missense_T224A,Missense_T224A exm989124 12 21457402 [A/G] NM_021094,NM_134431 SLCO1A2,SLCO1A2 EXON Missense_I183T,Missense_I183T exm989126 12 21457434 [T/G] NM_021094,NM_134431 SLCO1A2,SLCO1A2 EXON Missense_E172D,Missense_E172D exm989127 12 21457447 [T/C] NM_021094,NM_134431 SLCO1A2,SLCO1A2 EXON Missense_R168H,Missense_R168H exm989129 12 21457454 [T/C] NM_021094,NM_134431 SLCO1A2,SLCO1A2 EXON Missense_I166V,Missense_I166V exm989136 12 21459876 [A/T] NM_021094,NM_134431 SLCO1A2,SLCO1A2 EXON Missense_N128Y,Missense_N128Y exm1763155 12 21467482 [T/C] NM_021094,NM_134431 SLCO1A2,SLCO1A2 Silent,Silent exm1763156 12 21467546 [A/G] NM_021094,NM_134431 SLCO1A2,SLCO1A2 EXON Missense_I91T,Missense_I91T exm989157 12 21487544 [A/G] NM_021094,NM_134431 SLCO1A2,SLCO1A2 EXON Missense_I13T,Missense_I13T exm2250774 12 21526294 [T/C] NM_134431,NM_000415 SLCO1A2,IAPP EXON Silent,Synonymous_I3I exm989159 12 21526294 [T/C] NM_134431,NM_000415 SLCO1A2,IAPP EXON Silent,Synonymous_I3I exm989160 12 21526305 [A/G] NM_134431,NM_000415 SLCO1A2,IAPP EXON Silent,Missense_Q7R exm989165 12 21526367 [T/C] NM_134431,NM_000415 SLCO1A2,IAPP Silent,Silent exm989171 12 21531247 [A/G] NM_134431,NM_000415 SLCO1A2,IAPP EXON Silent,Missense_S53G exm989178 12 21531344 [A/G] NM_134431,NM_000415 SLCO1A2,IAPP EXON Silent,Missense_N85S exm989192 12 21593321 [T/C] NM_024854 PYROXD1 EXON Missense_S35L exm989206 12 21602576 [A/G] NM_024854 PYROXD1 EXON Missense_C122Y exm989217 12 21608185 [A/G] NM_024854 PYROXD1 EXON Missense_E203G exm989218 12 21608200 [T/A] NM_024854 PYROXD1 EXON Missense_H208L exm989230 12 21614040 [A/C] NM_024854 PYROXD1 EXON Missense_K278Q exm989231 12 21614042 [C/G] NM_024854 PYROXD1 EXON Missense_K278N exm989247 12 21620419 [A/G] NM_024854 PYROXD1 EXON Missense_R374K exm989263 12 21621533 [A/G] NM_024854 PYROXD1 EXON Missense_V450I exm989302 12 21624504 [T/A] NM_032941,NM_002907 RECQL,RECQL EXON Nonsense_K509X,Nonsense_K509X exm989304 12 21624546 [C/G] NM_032941,NM_002907 RECQL,RECQL EXON Missense_D495H,Missense_D495H exm989306 12 21624564 [T/C] NM_032941,NM_002907 RECQL,RECQL EXON Missense_I489V,Missense_I489V exm989307 12 21624569 [T/G] NM_032941,NM_002907 RECQL,RECQL EXON Missense_K487T,Missense_K487T exm989315 12 21627774 [T/C] NM_032941,NM_002907 RECQL,RECQL Silent,Silent exm989320 12 21627889 [T/C] NM_032941,NM_002907 RECQL,RECQL EXON Missense_C414Y,Missense_C414Y exm989322 12 21628403 [T/G] NM_032941,NM_002907 RECQL,RECQL EXON Synonymous_A405A,Synonymous_A405A exm989325 12 21628620 [T/C] NM_032941,NM_002907 RECQL,RECQL EXON Missense_N363S,Missense_N363S exm989337 12 21629896 [A/T] NM_032941,NM_002907 RECQL,RECQL EXON Missense_F300I,Missense_F300I exm989340 12 21629923 [A/G] NM_032941,NM_002907 RECQL,RECQL EXON Missense_R291W,Missense_R291W exm2250778 12 21630146 [A/G] NM_032941,NM_002907 RECQL,RECQL Silent,Silent exm989343 12 21630795 [T/C] NM_032941,NM_002907 RECQL,RECQL EXON Missense_C270Y,Missense_C270Y exm989355 12 21639421 [T/A] NM_032941,NM_002907 RECQL,RECQL EXON Missense_S165C,Missense_S165C exm989359 12 21639507 [A/G] NM_032941,NM_002907 RECQL,RECQL EXON Missense_V136A,Missense_V136A exm989360 12 21639508 [T/C] NM_032941,NM_002907 RECQL,RECQL EXON Missense_V136I,Missense_V136I exm989361 12 21639513 [A/G] NM_032941,NM_002907 RECQL,RECQL EXON Missense_T134I,Missense_T134I exm989365 12 21643223 [T/C] NM_032941,NM_002907 RECQL,RECQL EXON Missense_V102I,Missense_V102I exm989375 12 21644581 [A/G] NM_032941,NM_002907 RECQL,RECQL EXON Missense_T29M,Missense_T29M exm989381 12 21652490 [T/C] NM_032941,NM_002907 RECQL,RECQL EXON Synonymous_S5S,Synonymous_S5S exm1763275 12 21652503 [A/G] NM_032941,NM_002907 RECQL,RECQL EXON Missense_M1T,Missense_M1T exm989398 12 21665245 [A/G] NM_016072 GOLT1B EXON Missense_V105I exm989401 12 21665309 [T/C] NM_016072 GOLT1B EXON Missense_S126L exm989410 12 21680067 [A/C] NM_030572 C12orf39 Silent exm989412 12 21680107 [A/G] NM_030572 C12orf39 EXON Missense_M42I exm989413 12 21680111 [T/C] NM_030572 C12orf39 EXON Missense_Y44H exm989416 12 21680693 [A/G] NM_030572 C12orf39 EXON Missense_R60G exm989432 12 21689928 [A/G] NM_021957 GYS2 EXON Missense_P691L exm989433 12 21689932 [A/C] NM_021957 GYS2 EXON Missense_V690F exm989436 12 21689946 [A/G] NM_021957 GYS2 EXON Missense_F685S exm989438 12 21689995 [T/C] NM_021957 GYS2 EXON Missense_D669N exm989441 12 21690094 [A/G] NM_021957 GYS2 EXON Missense_Y636H exm2274572 12 21692202 [A/G] NM_021957 GYS2 EXON Missense_S627L exm989449 12 21693379 [C/G] NM_021957 GYS2 EXON Missense_L592V exm989452 12 21693418 [A/G] NM_021957 GYS2 EXON Missense_R579C exm989457 12 21693481 [A/G] NM_021957 GYS2 EXON Missense_R558C exm989459 12 21695431 [A/G] NM_021957 GYS2 EXON Synonymous_Y548Y exm989460 12 21695439 [T/C] NM_021957 GYS2 EXON Missense_T546A exm989465 12 21695522 [T/G] NM_021957 GYS2 EXON Missense_E518A exm989470 12 21699391 [T/G] NM_021957 GYS2 EXON Missense_P479Q exm989473 12 21711150 [T/C] NM_021957 GYS2 EXON Missense_R469H exm989483 12 21712088 [G/C] NM_021957 GYS2 EXON Missense_D415E exm989495 12 21713402 [T/C] NM_021957 GYS2 EXON Missense_M363V exm989514 12 21727179 [T/C] NM_021957 GYS2 EXON Missense_A193T exm989515 12 21727182 [A/G] NM_021957 GYS2 EXON Nonsense_R192X exm989517 12 21727209 [A/G] NM_021957 GYS2 EXON Nonsense_Q183X exm1763352 12 21733280 [A/C] NM_021957 GYS2 EXON Missense_C100F exm989529 12 21733299 [T/C] NM_021957 GYS2 EXON Missense_A94T exm2250779 12 21788602 [T/C] NM_002300,NM_001174097 LDHB,LDHB EXON Synonymous_P293P,Synonymous_P293P exm989548 12 21790075 [T/C] NM_002300,NM_001174097 LDHB,LDHB EXON Missense_S256N,Missense_S256N exm989551 12 21790093 [T/C] NM_002300,NM_001174097 LDHB,LDHB EXON Missense_N250S,Missense_N250S exm989566 12 21794958 [T/C] NM_002300,NM_001174097 LDHB,LDHB EXON Missense_M175V,Missense_M175V exm1763384 12 21795008 [T/C] NM_002300,NM_001174097 LDHB,LDHB EXON Missense_R158H,Missense_R158H exm989589 12 21918667 [A/G] NM_004982 KCNJ8 EXON Missense_S422L exm989593 12 21918896 [T/C] NM_004982 KCNJ8 EXON Missense_V346I exm989594 12 21918931 [A/G] NM_004982 KCNJ8 EXON Missense_V334A exm989624 12 21926288 [C/G] NM_004982 KCNJ8 EXON Missense_A88G exm989639 12 21958187 [T/A] NM_020297,NM_005691 ABCC9,ABCC9 EXON Silent,Nonsense_L1524X exm989640 12 21958188 [T/A] NM_020297,NM_005691 ABCC9,ABCC9 EXON Silent,Missense_L1524I exm2250780 12 21967618 [T/C] NM_020297,NM_005691 ABCC9,ABCC9 EXON Synonymous_S1354S,Synonymous_S1354S exm989670 12 21981892 [T/C] NM_020297,NM_005691 ABCC9,ABCC9 EXON Synonymous_T1223T,Synonymous_T1223T exm989671 12 21981893 [A/G] NM_020297,NM_005691 ABCC9,ABCC9 EXON Missense_T1223M,Missense_T1223M exm989674 12 21981967 [T/C] NM_020297,NM_005691 ABCC9,ABCC9 EXON Missense_M1198I,Missense_M1198I exm989678 12 21995312 [T/C] NM_020297,NM_005691 ABCC9,ABCC9 EXON Missense_V1137I,Missense_V1137I exm989693 12 22001093 [T/C] NM_020297,NM_005691 ABCC9,ABCC9 EXON Missense_E953K,Missense_E953K exm989697 12 22001166 [G/C] NM_020297,NM_005691 ABCC9,ABCC9 EXON Missense_D928E,Missense_D928E exm989719 12 22015989 [T/C] NM_020297,NM_005691 ABCC9,ABCC9 Silent,Silent exm989721 12 22017410 [T/C] NM_020297,NM_005691 ABCC9,ABCC9 EXON Missense_V734I,Missense_V734I exm1763530 12 22028594 [A/G] NM_020297,NM_005691 ABCC9,ABCC9 EXON Missense_P696S,Missense_P696S exm989730 12 22028630 [T/C] NM_020297,NM_005691 ABCC9,ABCC9 EXON Missense_G684S,Missense_G684S exm1763535 12 22035726 [T/C] NM_020297,NM_005691 ABCC9,ABCC9 EXON Missense_A665T,Missense_A665T exm989734 12 22035732 [A/G] NM_020297,NM_005691 ABCC9,ABCC9 EXON Missense_R663C,Missense_R663C exm989740 12 22040762 [T/C] NM_020297,NM_005691 ABCC9,ABCC9 EXON Missense_V637I,Missense_V637I exm989742 12 22040784 [A/C] NM_020297,NM_005691 ABCC9,ABCC9 EXON Missense_E629D,Missense_E629D exm989762 12 22063090 [T/C] NM_020297,NM_005691 ABCC9,ABCC9 Silent,Silent exm2271827 12 22151573 [T/C] exm989816 12 22208133 [A/T] NM_018686 CMAS EXON Missense_F104Y exm989822 12 22208509 [A/G] NM_018686 CMAS EXON Missense_R175H exm2250782 12 22218149 [T/C] NM_018686 CMAS EXON Synonymous_Y403Y exm989842 12 22218171 [T/C] NM_018686 CMAS EXON Missense_R411C exm2250783 12 22313448 [T/C] exm989852 12 22354651 [A/C] NM_003034 ST8SIA1 EXON Missense_M302I exm989862 12 22354943 [T/G] NM_003034 ST8SIA1 EXON Missense_T205K exm-rs2216228 12 22365835 [T/C] NM_003034 ST8SIA1 Silent exm989876 12 22440084 [T/G] NM_003034 ST8SIA1 EXON Missense_Q127P exm989881 12 22440184 [T/C] NM_003034 ST8SIA1 EXON Missense_M94V exm989892 12 22487045 [T/C] NM_003034 ST8SIA1 EXON Missense_C41Y exm989898 12 22602741 [T/C] NM_014802 C2CD5 EXON Missense_T986A exm989908 12 22610044 [T/C] NM_014802 C2CD5 EXON Missense_R862H exm989913 12 22623772 [T/C] NM_014802 C2CD5 EXON Missense_K811R exm989914 12 22624364 [T/G] NM_014802 C2CD5 EXON Missense_T776K exm989916 12 22624394 [T/A] NM_014802 C2CD5 EXON Missense_I766N exm1763666 12 22631254 [T/C] NM_014802 C2CD5 EXON Missense_N632S exm989940 12 22635628 [T/C] NM_014802 C2CD5 EXON Missense_I534V exm989944 12 22637674 [T/C] NM_014802 C2CD5 EXON Missense_T503A exm1763672 12 22643056 [T/C] NM_014802 C2CD5 Silent exm1763677 12 22659720 [A/G] NM_014802 C2CD5 EXON Missense_P358S exm989952 12 22666283 [A/C] NM_014802 C2CD5 EXON Missense_G328V exm989953 12 22666284 [A/C] NM_014802 C2CD5 EXON Missense_G328W exm989956 12 22670968 [A/G] NM_014802 C2CD5 EXON Nonsense_R302X exm989964 12 22676451 [G/C] NM_014802 C2CD5 EXON Missense_R237G exm989972 12 22677558 [A/G] NM_014802 C2CD5 EXON Missense_T150M exm989983 12 22680709 [T/C] NM_014802 C2CD5 EXON Missense_S99G exm2250785 12 22680809 [T/C] NM_014802 C2CD5 EXON Synonymous_L65L exm989993 12 22778123 [T/G] NM_001039481,NM_018638 ETNK1,ETNK1 EXON Missense_S9I,Missense_S9I exm989997 12 22778185 [T/C] NM_001039481,NM_018638 ETNK1,ETNK1 EXON Missense_R30W,Missense_R30W exm990024 12 22796739 [A/G] NM_001039481,NM_018638 ETNK1,ETNK1 EXON Missense_V156M,Missense_V156M exm990032 12 22797165 [A/G] NM_001039481,NM_018638 ETNK1,ETNK1 EXON Missense_C235Y,Silent exm990035 12 22797200 [A/G] NM_001039481,NM_018638 ETNK1,ETNK1 EXON Missense_G247S,Silent exm990036 12 22797204 [A/G] NM_001039481,NM_018638 ETNK1,ETNK1 EXON Missense_C248Y,Silent exm990040 12 22814023 [A/G] NM_018638 ETNK1 EXON Missense_Q284R exm990047 12 22826516 [A/T] NM_018638 ETNK1 EXON Missense_K378N exm990052 12 22837885 [T/G] NM_018638 ETNK1 EXON Missense_E452D exm2250787 12 22968378 [A/G] exm2250789 12 23183392 [T/C] exm2271828 12 23261452 [T/G] exm2271829 12 23553119 [T/C] exm990086 12 23737480 [T/C] NM_001261414,NM_006940,NM_001261415,NM_178010,NM_152989 SOX5,SOX5,SOX5,SOX5,SOX5 Silent,Silent,Silent,Silent,Silent exm990087 12 23737481 [A/G] NM_001261414,NM_006940,NM_001261415,NM_178010,NM_152989 SOX5,SOX5,SOX5,SOX5,SOX5 EXON Silent,Silent,Silent,Synonymous_H2H,Silent exm990092 12 23757400 [T/G] NM_001261414,NM_006940,NM_001261415,NM_152989 SOX5,SOX5,SOX5,SOX5 EXON Missense_Q349P,Missense_Q362P,Missense_Q352P,Missense_Q349P exm990096 12 23757468 [T/C] NM_001261414,NM_006940,NM_001261415,NM_152989 SOX5,SOX5,SOX5,SOX5 Silent,Silent,Silent,Silent exm-rs10771012 12 23788075 [A/G] NM_001261414,NM_006940,NM_001261415,NM_152989 SOX5,SOX5,SOX5,SOX5 Silent,Silent,Silent,Silent exm990100 12 23818435 [A/C] NM_001261414,NM_006940,NM_001261415,NM_152989 SOX5,SOX5,SOX5,SOX5 EXON Missense_A279S,Missense_A292S,Missense_A282S,Missense_A279S exm2250794 12 23887633 [A/G] NM_001261414,NM_006940,NM_001261415,NM_152989 SOX5,SOX5,SOX5,SOX5 EXON Synonymous_L252L,Synonymous_L265L,Synonymous_L255L,Synonymous_L252L exm2250795 12 23923719 [T/C] NM_001261414,NM_006940,NM_001261415,NM_152989 SOX5,SOX5,SOX5,SOX5 Silent,Silent,Silent,Silent exm-rs11047102 12 23946146 [T/C] NM_001261414,NM_006940,NM_001261415,NM_152989 SOX5,SOX5,SOX5,SOX5 Silent,Silent,Silent,Silent exm2250797 12 23998927 [A/G] NM_001261414,NM_006940,NM_001261415,NM_152989 SOX5,SOX5,SOX5,SOX5 EXON Synonymous_N144N,Synonymous_N157N,Synonymous_N147N,Synonymous_N144N exm2271699 12 24177550 [T/G] NM_001261414,NM_152989 SOX5,SOX5 Silent,Silent exm-rs7979575 12 24278821 [C/G] NM_001261414,NM_152989 SOX5,SOX5 Silent,Silent exm-rs1464500 12 24389660 [T/G] NM_001261414,NM_152989 SOX5,SOX5 Silent,Silent exm-rs1522232 12 24394372 [T/C] NM_001261414,NM_152989 SOX5,SOX5 Silent,Silent exm-rs483684 12 24504285 [T/C] NM_001261414,NM_152989 SOX5,SOX5 Silent,Silent exm2271830 12 24749874 [T/C] exm-rs17287293 12 24770878 [A/G] exm-rs11047543 12 24788339 [A/G] exm2271700 12 24870180 [T/C] exm990165 12 24985659 [T/C] NM_001178091,NM_005504,NM_001178092,NM_001178094,NM_001178093 BCAT1,BCAT1,BCAT1,BCAT1,BCAT1 EXON Missense_E311K,Missense_E348K,Missense_E287K,Missense_E347K,Missense_E360K exm2250806 12 24985660 [A/G] NM_001178091,NM_005504,NM_001178092,NM_001178094,NM_001178093 BCAT1,BCAT1,BCAT1,BCAT1,BCAT1 EXON Synonymous_G310G,Synonymous_G347G,Synonymous_G286G,Synonymous_G346G,Synonymous_G359G exm990168 12 24985740 [T/C] NM_001178091,NM_005504,NM_001178092,NM_001178094,NM_001178093 BCAT1,BCAT1,BCAT1,BCAT1,BCAT1 EXON Missense_E284K,Missense_E321K,Missense_E260K,Missense_E320K,Missense_E333K exm2267332 12 24990707 [A/G] NM_001178091,NM_005504,NM_001178092,NM_001178094,NM_001178093 BCAT1,BCAT1,BCAT1,BCAT1,BCAT1 Silent,Silent,Silent,Silent,Silent exm990183 12 25002772 [A/G] NM_001178091,NM_005504,NM_001178092,NM_001178094,NM_001178093 BCAT1,BCAT1,BCAT1,BCAT1,BCAT1 EXON Missense_P171S,Missense_P208S,Missense_P147S,Missense_P207S,Missense_P220S exm990184 12 25002847 [A/G] NM_001178091,NM_005504,NM_001178092,NM_001178094,NM_001178093 BCAT1,BCAT1,BCAT1,BCAT1,BCAT1 EXON Missense_L146F,Missense_L183F,Missense_L122F,Missense_L182F,Missense_L195F exm990190 12 25034236 [A/G] NM_001178091,NM_005504,NM_001178092,NM_001178094,NM_001178093 BCAT1,BCAT1,BCAT1,BCAT1,BCAT1 EXON Silent,Missense_P130L,Silent,Missense_P129L,Missense_P142L exm990194 12 25047241 [G/C] NM_001178091,NM_005504,NM_001178092,NM_001178094,NM_001178093 BCAT1,BCAT1,BCAT1,BCAT1,BCAT1 EXON Missense_P83A,Missense_P83A,Missense_P59A,Missense_P82A,Missense_P95A exm2250808 12 25047287 [T/C] NM_001178091,NM_005504,NM_001178092,NM_001178094,NM_001178093 BCAT1,BCAT1,BCAT1,BCAT1,BCAT1 EXON Synonymous_G67G,Synonymous_G67G,Synonymous_G43G,Synonymous_G66G,Synonymous_G79G exm990196 12 25047287 [T/C] NM_001178091,NM_005504,NM_001178092,NM_001178094,NM_001178093 BCAT1,BCAT1,BCAT1,BCAT1,BCAT1 EXON Synonymous_G67G,Synonymous_G67G,Synonymous_G43G,Synonymous_G66G,Synonymous_G79G exm990197 12 25047312 [A/G] NM_001178091,NM_005504,NM_001178092,NM_001178094,NM_001178093 BCAT1,BCAT1,BCAT1,BCAT1,BCAT1 EXON Missense_T59M,Missense_T59M,Missense_T35M,Missense_T58M,Missense_T71M exm990205 12 25147261 [C/G] NM_001101339 C12orf77 EXON Missense_S136R exm990206 12 25148754 [T/C] NM_001101339 C12orf77 EXON Missense_G132R exm990207 12 25148755 [G/C] NM_001101339 C12orf77 EXON Missense_L131F exm990215 12 25148872 [T/A] NM_001101339 C12orf77 EXON Nonsense_Y92X exm990221 12 25148940 [A/G] NM_001101339 C12orf77 EXON Nonsense_Q70X exm990230 12 25149149 [A/G] NM_001101339 C12orf77 EXON Missense_T43M exm990237 12 25149269 [A/G] NM_001101339 C12orf77 EXON Missense_P3L exm990244 12 25232193 [T/C] NM_006152,NM_001204127,NM_001204126 LRMP,LRMP,LRMP EXON Missense_R14C,Missense_R14C,Missense_R14C exm990251 12 25232364 [G/C] NM_006152,NM_001204127,NM_001204126 LRMP,LRMP,LRMP EXON Missense_T35S,Missense_T35S,Missense_T35S exm990253 12 25232372 [A/G] NM_006152,NM_001204127,NM_001204126 LRMP,LRMP,LRMP EXON Missense_T38A,Missense_T38A,Missense_T38A exm990259 12 25232641 [T/C] NM_006152,NM_001204127,NM_001204126 LRMP,LRMP,LRMP EXON Missense_S63L,Missense_S63L,Missense_S63L exm990260 12 25232683 [T/C] NM_006152,NM_001204127,NM_001204126 LRMP,LRMP,LRMP EXON Missense_T77M,Missense_T77M,Missense_T77M exm990261 12 25232686 [T/C] NM_006152,NM_001204127,NM_001204126 LRMP,LRMP,LRMP EXON Missense_I78T,Missense_I78T,Missense_I78T exm990262 12 25232698 [A/G] NM_006152,NM_001204127,NM_001204126 LRMP,LRMP,LRMP Silent,Silent,Silent exm990263 12 25236360 [T/C] NM_006152,NM_001204127,NM_001204126 LRMP,LRMP,LRMP EXON Missense_T83I,Missense_T83I,Missense_T83I exm990271 12 25242595 [G/C] NM_006152,NM_001204127,NM_001204126 LRMP,LRMP,LRMP EXON Missense_L141V,Missense_L141V,Missense_L141V exm990281 12 25243051 [A/G] NM_006152,NM_001204127,NM_001204126 LRMP,LRMP,LRMP EXON Missense_V176M,Missense_V176M,Missense_V176M exm990282 12 25243115 [G/C] NM_006152,NM_001204127,NM_001204126 LRMP,LRMP,LRMP EXON Missense_C197S,Missense_C197S,Missense_C197S exm990288 12 25254154 [A/G] NM_006152,NM_001204127,NM_001204126 LRMP,LRMP,LRMP EXON Missense_V262I,Missense_V262I,Missense_V262I exm990291 12 25254199 [C/G] NM_006152,NM_001204127,NM_001204126 LRMP,LRMP,LRMP EXON Missense_E277Q,Missense_E277Q,Missense_E277Q exm990303 12 25257329 [A/C] NM_006152,NM_001204127,NM_001204126 LRMP,LRMP,LRMP EXON Missense_P361T,Missense_P361T,Missense_P361T exm990307 12 25259950 [A/G] NM_006152,NM_001204127,NM_001204126 LRMP,LRMP,LRMP EXON Missense_K408E,Missense_K408E,Missense_K408E exm990316 12 25260968 [T/C] NM_006152,NM_001204127,NM_001204126 LRMP,LRMP,LRMP EXON Nonsense_R492X,Nonsense_R492X,Nonsense_R492X exm990324 12 25261702 [A/G] NM_018272,NM_001204101,NM_001082972,NM_001082973,NM_001204102 CASC1,CASC1,CASC1,CASC1,CASC1 EXON Missense_M650T,Missense_M585T,Silent,Missense_M644T,Missense_M604T exm990326 12 25261735 [T/G] NM_018272,NM_001204101,NM_001082972,NM_001082973,NM_001204102 CASC1,CASC1,CASC1,CASC1,CASC1 EXON Missense_A639E,Missense_A574E,Silent,Missense_A633E,Missense_A593E exm990328 12 25261757 [T/C] NM_018272,NM_001204101,NM_001082972,NM_001082973,NM_001204102 CASC1,CASC1,CASC1,CASC1,CASC1 EXON Missense_V632M,Missense_V567M,Silent,Missense_V626M,Missense_V586M exm990331 12 25263069 [T/C] NM_018272,NM_001204101,NM_001082972,NM_001082973,NM_001204102 CASC1,CASC1,CASC1,CASC1,CASC1 EXON Missense_V629I,Missense_V564I,Missense_V687I,Missense_V623I,Missense_V583I exm990339 12 25264723 [T/C] NM_018272,NM_001204101,NM_001082972,NM_001082973,NM_001204102 CASC1,CASC1,CASC1,CASC1,CASC1 EXON Missense_V588I,Missense_V523I,Missense_V646I,Missense_V582I,Missense_V542I exm990340 12 25264792 [T/C] NM_018272,NM_001204101,NM_001082972,NM_001082973,NM_001204102 CASC1,CASC1,CASC1,CASC1,CASC1 EXON Missense_I565V,Missense_I500V,Missense_I623V,Missense_I559V,Missense_I519V exm990341 12 25264849 [T/C] NM_018272,NM_001204101,NM_001082972,NM_001082973,NM_001204102 CASC1,CASC1,CASC1,CASC1,CASC1 EXON Missense_I546V,Missense_I481V,Missense_I604V,Missense_I540V,Missense_I500V exm990344 12 25267613 [T/C] NM_018272,NM_001204101,NM_001082972,NM_001082973,NM_001204102 CASC1,CASC1,CASC1,CASC1,CASC1 EXON Missense_T530A,Missense_T465A,Missense_T588A,Missense_T524A,Missense_T484A exm990359 12 25274755 [T/C] NM_018272,NM_001204101,NM_001082972,NM_001082973,NM_001204102 CASC1,CASC1,CASC1,CASC1,CASC1 EXON Missense_V391I,Missense_V326I,Missense_V449I,Missense_V385I,Missense_V345I exm990361 12 25276180 [T/C] NM_018272,NM_001204101,NM_001082972,NM_001082973,NM_001204102 CASC1,CASC1,CASC1,CASC1,CASC1 EXON Missense_R348Q,Missense_R283Q,Missense_R406Q,Missense_R342Q,Missense_R302Q exm2275390 12 25276181 [A/G] NM_018272,NM_001204101,NM_001082972,NM_001082973,NM_001204102 CASC1,CASC1,CASC1,CASC1,CASC1 EXON Nonsense_R348X,Nonsense_R283X,Nonsense_R406X,Nonsense_R342X,Nonsense_R302X exm990363 12 25276221 [G/C] NM_018272,NM_001204101,NM_001082972,NM_001082973,NM_001204102 CASC1,CASC1,CASC1,CASC1,CASC1 Silent,Silent,Silent,Silent,Silent exm1764518 12 25297337 [T/C] NM_018272,NM_001204101,NM_001082972,NM_001082973,NM_001204102 CASC1,CASC1,CASC1,CASC1,CASC1 EXON Missense_K322E,Missense_K257E,Missense_K380E,Missense_K316E,Missense_K276E exm990380 12 25299993 [T/C] NM_018272,NM_001204101,NM_001082972,NM_001082973,NM_001204102 CASC1,CASC1,CASC1,CASC1,CASC1 EXON Missense_V211I,Missense_V146I,Missense_V269I,Missense_V205I,Missense_V165I exm990397 12 25307335 [A/G] NM_018272,NM_001204101,NM_001082972,NM_001082973,NM_001204102 CASC1,CASC1,CASC1,CASC1,CASC1 EXON Missense_M119T,Missense_M54T,Missense_M177T,Missense_M113T,Missense_M73T exm990401 12 25308323 [T/G] NM_018272,NM_001204101,NM_001082972,NM_001082973,NM_001204102 CASC1,CASC1,CASC1,CASC1,CASC1 EXON Missense_E74D,Missense_E9D,Missense_E132D,Missense_E68D,Missense_E28D exm990404 12 25311455 [A/G] NM_018272,NM_001204101,NM_001082972,NM_001082973,NM_001204102 CASC1,CASC1,CASC1,CASC1,CASC1 EXON Missense_L50P,Silent,Missense_L108P,Missense_L44P,Missense_L4P exm990408 12 25311488 [T/C] NM_018272,NM_001204101,NM_001082972,NM_001082973,NM_001204102 CASC1,CASC1,CASC1,CASC1,CASC1 EXON Missense_R39H,Silent,Missense_R97H,Missense_R33H,Silent exm990409 12 25311489 [T/G] NM_018272,NM_001204101,NM_001082972,NM_001082973,NM_001204102 CASC1,CASC1,CASC1,CASC1,CASC1 EXON Missense_R39S,Silent,Missense_R97S,Missense_R33S,Silent exm1764534 12 25314094 [C/G] NM_018272,NM_001204101,NM_001082972,NM_001082973,NM_001204102 CASC1,CASC1,CASC1,CASC1,CASC1 EXON Missense_R20P,Silent,Missense_R78P,Missense_R14P,Silent exm990425 12 25347959 [A/G] NM_018272,NM_001204101,NM_001082972,NM_001082973,NM_001204102 CASC1,CASC1,CASC1,CASC1,CASC1 EXON Silent,Silent,Missense_A13V,Silent,Silent exm990439 12 25357141 [T/G] NM_001001660 LYRM5 EXON Missense_I56M exm990445 12 25368410 [T/C] NM_004985,NM_033360 KRAS,KRAS EXON Silent,Missense_G179S exm1764546 12 25368455 [A/G] NM_004985,NM_033360 KRAS,KRAS EXON Silent,Nonsense_R164X exm2260021 12 25432626 [A/G] exm2250811 12 25666033 [A/G] NM_152590,NM_001145728,NM_001256266,NM_001145727,NM_001145729 IFLTD1,IFLTD1,IFLTD1,IFLTD1,IFLTD1 Silent,Silent,Silent,Silent,Silent exm1764609 12 25671755 [A/C] NM_152590,NM_001145728,NM_001256266,NM_001145727,NM_001145729 IFLTD1,IFLTD1,IFLTD1,IFLTD1,IFLTD1 EXON Missense_R367L,Missense_R388L,Missense_R270L,Missense_R304L,Missense_R348L exm990469 12 25671837 [A/C] NM_152590,NM_001145728,NM_001256266,NM_001145727,NM_001145729 IFLTD1,IFLTD1,IFLTD1,IFLTD1,IFLTD1 EXON Missense_S340A,Missense_S361A,Missense_S243A,Missense_S277A,Missense_S321A exm990477 12 25672877 [T/C] NM_152590,NM_001145728,NM_001256266,NM_001145727,NM_001145729 IFLTD1,IFLTD1,IFLTD1,IFLTD1,IFLTD1 EXON Missense_A290T,Missense_A311T,Missense_A193T,Missense_A227T,Missense_A271T exm990478 12 25672880 [T/C] NM_152590,NM_001145728,NM_001256266,NM_001145727,NM_001145729 IFLTD1,IFLTD1,IFLTD1,IFLTD1,IFLTD1 EXON Missense_T289A,Missense_T310A,Missense_T192A,Missense_T226A,Missense_T270A exm990481 12 25672945 [T/C] NM_152590,NM_001145728,NM_001256266,NM_001145727,NM_001145729 IFLTD1,IFLTD1,IFLTD1,IFLTD1,IFLTD1 EXON Missense_E267G,Missense_E288G,Missense_E170G,Missense_E204G,Missense_E248G exm990482 12 25672955 [T/C] NM_152590,NM_001145728,NM_001256266,NM_001145727,NM_001145729 IFLTD1,IFLTD1,IFLTD1,IFLTD1,IFLTD1 EXON Missense_A264T,Missense_A285T,Missense_A167T,Missense_A201T,Missense_A245T exm990489 12 25679038 [T/C] NM_152590,NM_001145728,NM_001256266,NM_001145727,NM_001145729 IFLTD1,IFLTD1,IFLTD1,IFLTD1,IFLTD1 EXON Missense_G244S,Missense_G265S,Missense_G147S,Missense_G181S,Silent exm1764618 12 25679043 [A/G] NM_152590,NM_001145728,NM_001256266,NM_001145727,NM_001145729 IFLTD1,IFLTD1,IFLTD1,IFLTD1,IFLTD1 EXON Missense_P242L,Missense_P263L,Missense_P145L,Missense_P179L,Silent exm990494 12 25679137 [A/G] NM_152590,NM_001145728,NM_001256266,NM_001145727,NM_001145729 IFLTD1,IFLTD1,IFLTD1,IFLTD1,IFLTD1 EXON Missense_S211P,Missense_S232P,Missense_S114P,Missense_S148P,Silent exm990495 12 25679729 [T/C] NM_152590,NM_001145728,NM_001256266,NM_001145727,NM_001145729 IFLTD1,IFLTD1,IFLTD1,IFLTD1,IFLTD1 EXON Missense_V197I,Missense_V218I,Missense_V100I,Missense_V134I,Missense_V218I exm990498 12 25679744 [A/G] NM_152590,NM_001145728,NM_001256266,NM_001145727,NM_001145729 IFLTD1,IFLTD1,IFLTD1,IFLTD1,IFLTD1 EXON Missense_F192L,Missense_F213L,Missense_F95L,Missense_F129L,Missense_F213L exm990505 12 25679848 [T/C] NM_152590,NM_001145728,NM_001256266,NM_001145727,NM_001145729 IFLTD1,IFLTD1,IFLTD1,IFLTD1,IFLTD1 EXON Missense_G157D,Missense_G178D,Missense_G60D,Missense_G94D,Missense_G178D exm990521 12 25702478 [T/C] NM_152590,NM_001145728,NM_001256266,NM_001145727,NM_001145729 IFLTD1,IFLTD1,IFLTD1,IFLTD1,IFLTD1 EXON Missense_R10K,Missense_R31K,Silent,Silent,Missense_R31K exm990522 12 25705804 [T/C] NM_152590,NM_001145728,NM_001256266,NM_001145727,NM_001145729 IFLTD1,IFLTD1,IFLTD1,IFLTD1,IFLTD1 Silent,Silent,Silent,Silent,Silent exm990525 12 25706010 [T/C] NM_152590,NM_001145728,NM_001256266,NM_001145727,NM_001145729 IFLTD1,IFLTD1,IFLTD1,IFLTD1,IFLTD1 EXON Missense_I7V,Silent,Silent,Silent,Silent exm990552 12 26217839 [A/G] NM_001164748,NM_007211,NM_001164747,NM_001164746 RASSF8,RASSF8,RASSF8,RASSF8 EXON Missense_R171H,Missense_R171H,Missense_R171H,Missense_R171H exm990555 12 26217934 [G/C] NM_001164748,NM_007211,NM_001164747,NM_001164746 RASSF8,RASSF8,RASSF8,RASSF8 EXON Missense_E203Q,Missense_E203Q,Missense_E203Q,Missense_E203Q exm990556 12 26217950 [A/G] NM_001164748,NM_007211,NM_001164747,NM_001164746 RASSF8,RASSF8,RASSF8,RASSF8 EXON Missense_R208H,Missense_R208H,Missense_R208H,Missense_R208H exm990558 12 26217980 [T/C] NM_001164748,NM_007211,NM_001164747,NM_001164746 RASSF8,RASSF8,RASSF8,RASSF8 EXON Missense_V218A,Missense_V218A,Missense_V218A,Missense_V218A exm990561 12 26218124 [A/G] NM_001164748,NM_007211,NM_001164747,NM_001164746 RASSF8,RASSF8,RASSF8,RASSF8 EXON Missense_R266Q,Missense_R266Q,Missense_R266Q,Missense_R266Q exm990562 12 26218163 [A/G] NM_001164748,NM_007211,NM_001164747,NM_001164746 RASSF8,RASSF8,RASSF8,RASSF8 EXON Missense_R279Q,Missense_R279Q,Missense_R279Q,Missense_R279Q exm990567 12 26218213 [A/G] NM_001164748,NM_007211,NM_001164747,NM_001164746 RASSF8,RASSF8,RASSF8,RASSF8 EXON Missense_G296S,Missense_G296S,Missense_G296S,Missense_G296S exm990571 12 26220602 [T/C] NM_001164748,NM_007211,NM_001164747,NM_001164746 RASSF8,RASSF8,RASSF8,RASSF8 EXON Missense_A365V,Missense_A365V,Missense_A365V,Missense_A365V exm2250816 12 26276013 [A/G] NM_030762 BHLHE41 EXON Synonymous_Y145Y exm990625 12 26277652 [G/C] NM_030762 BHLHE41 EXON Missense_G21R exm1764885 12 26277654 [A/G] NM_030762 BHLHE41 EXON Missense_I20T exm2250818 12 26347002 [A/G] exm990637 12 26377285 [A/C] NM_001135823,NM_005086 SSPN,SSPN EXON Missense_E10D,Missense_E113D exm990639 12 26383678 [T/C] NM_001135823,NM_005086 SSPN,SSPN EXON Missense_T31M,Missense_T134M exm990643 12 26383695 [A/G] NM_001135823,NM_005086 SSPN,SSPN EXON Missense_V37M,Missense_V140M exm990651 12 26383803 [T/C] NM_001135823,NM_005086 SSPN,SSPN EXON Missense_F73L,Missense_F176L exm990656 12 26383834 [A/G] NM_001135823,NM_005086 SSPN,SSPN EXON Missense_S83N,Missense_S186N exm990660 12 26383959 [A/G] NM_001135823,NM_005086 SSPN,SSPN EXON Missense_V125I,Missense_V228I exm990661 12 26383978 [T/C] NM_001135823,NM_005086 SSPN,SSPN EXON Missense_T131M,Missense_T234M exm2260023 12 26438189 [A/G] exm-rs718314 12 26453283 [A/G] exm990665 12 26493117 [T/C] NM_002223 ITPR2 EXON Missense_A2668T exm990668 12 26493155 [A/G] NM_002223 ITPR2 EXON Missense_S2655L exm990697 12 26572103 [T/C] NM_002223 ITPR2 EXON Missense_R2330H exm990704 12 26580929 [A/G] NM_002223 ITPR2 EXON Missense_R2288W exm990708 12 26581013 [A/G] NM_002223 ITPR2 EXON Missense_S2260P exm990709 12 26589231 [T/C] NM_002223 ITPR2 EXON Missense_S2231N exm990712 12 26592152 [G/C] NM_002223 ITPR2 EXON Missense_T2184S exm1765040 12 26592183 [G/C] NM_002223 ITPR2 EXON Missense_R2174G exm-rs2306677 12 26636386 [A/G] NM_002223 ITPR2 Silent exm990741 12 26639140 [T/G] NM_002223 ITPR2 EXON Missense_E1903A exm990742 12 26639155 [A/G] NM_002223 ITPR2 EXON Missense_A1898V exm990751 12 26640117 [T/C] NM_002223 ITPR2 EXON Missense_R1813Q exm2260024 12 26697411 [A/G] NM_002223 ITPR2 Silent exm990776 12 26714876 [T/C] NM_002223 ITPR2 EXON Missense_R1547H exm990781 12 26731748 [T/C] NM_002223 ITPR2 EXON Missense_I1510V exm990789 12 26748402 [A/G] NM_002223 ITPR2 EXON Missense_A1459V exm1765109 12 26752182 [T/C] NM_002223 ITPR2 EXON Missense_I1300V exm990806 12 26752241 [T/C] NM_002223 ITPR2 EXON Missense_N1280S exm990807 12 26752256 [T/C] NM_002223 ITPR2 EXON Missense_R1275Q exm990818 12 26755391 [T/C] NM_002223 ITPR2 EXON Missense_K1197R exm990822 12 26755563 [T/C] NM_002223 ITPR2 EXON Missense_R1180Q exm990825 12 26755617 [A/C] NM_002223 ITPR2 EXON Missense_V1162G exm2250819 12 26772311 [A/G] NM_002223 ITPR2 Silent exm990826 12 26774089 [T/G] NM_002223 ITPR2 EXON Missense_E1143D exm990829 12 26774172 [T/G] NM_002223 ITPR2 EXON Missense_L1116I exm990841 12 26781014 [T/C] NM_002223 ITPR2 EXON Missense_N1006D exm2274573 12 26784809 [T/G] NM_002223 ITPR2 EXON Missense_E975A exm990850 12 26784910 [T/C] NM_002223 ITPR2 EXON Missense_M941I exm990883 12 26812055 [T/C] NM_002223 ITPR2 EXON Missense_R626Q exm2220386 12 26816744 [T/A] NM_002223 ITPR2 EXON Missense_K529N exm990890 12 26816779 [T/C] NM_002223 ITPR2 EXON Missense_V518I exm990902 12 26834858 [A/G] NM_002223 ITPR2 EXON Missense_A453V exm990928 12 26877653 [T/C] NM_002223 ITPR2 EXON Missense_K101R exm-rs7979400 12 26943416 [T/C] NM_002223 ITPR2 Silent exm990936 12 26985644 [T/C] NM_002223 ITPR2 EXON Missense_N24S exm990957 12 27066530 [A/T] NM_018164 ASUN EXON Missense_E555D exm990960 12 27067027 [A/G] NM_018164 ASUN EXON Missense_S485F exm990972 12 27070630 [A/G] NM_018164 ASUN EXON Missense_S309L exm990975 12 27070642 [T/C] NM_018164 ASUN EXON Missense_S305N exm990976 12 27070646 [T/C] NM_018164 ASUN EXON Missense_G304S exm990999 12 27089540 [A/G] NM_018164 ASUN EXON Missense_M66T exm991015 12 27109540 [T/C] NM_015633,NM_001171887,NM_001171888 FGFR1OP2,FGFR1OP2,FGFR1OP2 EXON Missense_M67T,Missense_M67T,Missense_M67T exm1765322 12 27117662 [A/G] NM_015633,NM_001171887 FGFR1OP2,FGFR1OP2 EXON Missense_S253N,Missense_S215N exm991029 12 27126968 [T/C] NM_016551 TM7SF3 EXON Missense_R548Q exm991030 12 27126969 [A/G] NM_016551 TM7SF3 EXON Nonsense_R548X exm991032 12 27126977 [A/G] NM_016551 TM7SF3 EXON Missense_L545P exm2250824 12 27132787 [T/C] NM_016551 TM7SF3 EXON Synonymous_S373S exm991043 12 27132809 [T/C] NM_016551 TM7SF3 EXON Nonsense_W366X exm991053 12 27143425 [T/C] NM_016551 TM7SF3 EXON Missense_A276T exm991059 12 27143508 [A/G] NM_016551 TM7SF3 EXON Missense_P248L exm991065 12 27148177 [A/G] NM_016551 TM7SF3 EXON Missense_A228V exm991066 12 27148199 [T/C] NM_016551 TM7SF3 EXON Missense_V221M exm991071 12 27148324 [C/G] NM_016551 TM7SF3 EXON Missense_P179R exm991075 12 27149678 [A/G] NM_016551 TM7SF3 EXON Missense_A172V exm991084 12 27156182 [A/G] NM_016551 TM7SF3 EXON Missense_V78A exm991088 12 27156248 [T/C] NM_016551 TM7SF3 EXON Missense_H56R exm991089 12 27156255 [T/C] NM_016551 TM7SF3 EXON Missense_I54V exm991090 12 27156261 [C/G] NM_016551 TM7SF3 EXON Missense_E52Q exm2271701 12 27166575 [T/C] NM_016551 TM7SF3 Silent exm991097 12 27175554 [A/G] NM_004264,NM_001271811,NR_073463,NR_073464 MED21,MED21,MED21,MED21 EXON Synonymous_S14S,Synonymous_S14S,Silent,Silent exm991112 12 27234184 [A/C] NM_001080406 C12orf71 EXON Missense_A245S exm991114 12 27234196 [T/G] NM_001080406 C12orf71 EXON Missense_P241T exm991120 12 27234364 [T/C] NM_001080406 C12orf71 EXON Missense_A185T exm991122 12 27234914 [A/G] NM_001080406 C12orf71 EXON Missense_P168L exm991123 12 27234924 [T/C] NM_001080406 C12orf71 EXON Missense_G165S exm991124 12 27234962 [T/A] NM_001080406 C12orf71 EXON Missense_F152Y exm991126 12 27234999 [T/C] NM_001080406 C12orf71 EXON Missense_I140V exm991130 12 27235124 [A/G] NM_001080406 C12orf71 EXON Missense_S98F exm991134 12 27235197 [A/C] NM_001080406 C12orf71 EXON Missense_D74Y exm991138 12 27235259 [A/G] NM_001080406 C12orf71 EXON Missense_F53S exm-rs7974993 12 27329738 [A/C] exm991155 12 27455090 [T/C] NM_015000 STK38L EXON Missense_A52V exm991192 12 27521258 [A/G] NM_020183,NM_001248005,NM_001248004,NM_001248003,NM_001248002 ARNTL2,ARNTL2,ARNTL2,ARNTL2,ARNTL2 EXON Missense_G32E,Missense_G43E,Missense_G32E,Missense_G43E,Missense_G32E exm991195 12 27521323 [A/G] NM_020183,NM_001248005,NM_001248004,NM_001248003,NM_001248002 ARNTL2,ARNTL2,ARNTL2,ARNTL2,ARNTL2 EXON Missense_G54R,Missense_G65R,Missense_G54R,Missense_G65R,Missense_G54R exm991196 12 27523100 [T/C] NM_020183,NM_001248005,NM_001248004,NM_001248003,NM_001248002 ARNTL2,ARNTL2,ARNTL2,ARNTL2,ARNTL2 EXON Missense_S74F,Silent,Silent,Silent,Missense_S74F exm991217 12 27540204 [A/G] NM_020183,NM_001248005,NM_001248004,NM_001248003,NM_001248002 ARNTL2,ARNTL2,ARNTL2,ARNTL2,ARNTL2 EXON Missense_K203R,Missense_K166R,Missense_K155R,Missense_K166R,Missense_K189R exm991218 12 27543028 [A/G] NM_020183,NM_001248005,NM_001248004,NM_001248003,NM_001248002 ARNTL2,ARNTL2,ARNTL2,ARNTL2,ARNTL2 Silent,Silent,Silent,Silent,Silent exm991219 12 27543071 [A/G] NM_020183,NM_001248005,NM_001248004,NM_001248003,NM_001248002 ARNTL2,ARNTL2,ARNTL2,ARNTL2,ARNTL2 EXON Missense_R273H,Missense_R236H,Missense_R225H,Missense_R236H,Missense_R259H exm991220 12 27543106 [T/C] NM_020183,NM_001248005,NM_001248004,NM_001248003,NM_001248002 ARNTL2,ARNTL2,ARNTL2,ARNTL2,ARNTL2 EXON Missense_R285W,Missense_R248W,Missense_R237W,Missense_R248W,Missense_R271W exm991224 12 27553533 [G/C] NM_020183,NM_001248005,NM_001248004,NM_001248003,NM_001248002 ARNTL2,ARNTL2,ARNTL2,ARNTL2,ARNTL2 EXON Missense_G329A,Missense_G292A,Missense_G281A,Missense_G292A,Missense_G315A exm991225 12 27553566 [A/G] NM_020183,NM_001248005,NM_001248004,NM_001248003,NM_001248002 ARNTL2,ARNTL2,ARNTL2,ARNTL2,ARNTL2 EXON Missense_N340S,Missense_N303S,Missense_N292S,Missense_N303S,Missense_N326S exm991229 12 27553662 [T/C] NM_020183,NM_001248005,NM_001248004,NM_001248003,NM_001248002 ARNTL2,ARNTL2,ARNTL2,ARNTL2,ARNTL2 EXON Missense_I372T,Missense_I335T,Missense_I324T,Missense_I335T,Missense_I358T exm991241 12 27556389 [A/G] NM_020183,NM_001248005,NM_001248004,NM_001248003,NM_001248002 ARNTL2,ARNTL2,ARNTL2,ARNTL2,ARNTL2 EXON Missense_S501G,Missense_S464G,Missense_S453G,Missense_S464G,Missense_S487G exm991251 12 27573341 [T/A] NM_020183,NM_001248005,NM_001248004,NM_001248003,NM_001248002 ARNTL2,ARNTL2,ARNTL2,ARNTL2,ARNTL2 EXON Missense_Q596L,Missense_S523C,Missense_Q548L,Missense_Q559L,Missense_Q582L exm991253 12 27573415 [T/G] NM_020183,NM_001248005,NM_001248004,NM_001248003,NM_001248002 ARNTL2,ARNTL2,ARNTL2,ARNTL2,ARNTL2 EXON Missense_G621W,Silent,Missense_G573W,Missense_G584W,Missense_G607W exm991259 12 27623691 [A/G] NM_001145010 C12orf70 EXON Missense_M43V exm991272 12 27628607 [T/C] NM_001145010 C12orf70 EXON Missense_T152M exm2220393 12 27628622 [A/G] NM_001145010 C12orf70 EXON Missense_N157S exm991275 12 27641445 [T/C] NM_001145010 C12orf70 EXON Missense_R189W exm991277 12 27641473 [A/G] NM_001145010 C12orf70 EXON Missense_S198N exm991280 12 27648710 [T/C] NM_001145010 C12orf70 EXON Missense_T252M exm2220396 12 27655047 [T/C] NM_001145010 C12orf70 EXON Missense_P342L exm2267336 12 27666258 [A/G] exm991303 12 27788020 [T/C] NM_177444,NM_003622,NM_001198915,NM_001198916 PPFIBP1,PPFIBP1,PPFIBP1,PPFIBP1 EXON Missense_T81M,Missense_T81M,Silent,Missense_T81M exm991306 12 27799008 [T/G] NM_177444,NM_003622,NM_001198915,NM_001198916 PPFIBP1,PPFIBP1,PPFIBP1,PPFIBP1 EXON Missense_L95R,Missense_L95R,Silent,Missense_L95R exm991307 12 27799019 [A/G] NM_177444,NM_003622,NM_001198915,NM_001198916 PPFIBP1,PPFIBP1,PPFIBP1,PPFIBP1 EXON Missense_G99R,Missense_G99R,Silent,Missense_G99R exm991308 12 27799047 [A/G] NM_177444,NM_003622,NM_001198915,NM_001198916 PPFIBP1,PPFIBP1,PPFIBP1,PPFIBP1 EXON Missense_R108H,Missense_R108H,Silent,Missense_R108H exm991310 12 27799073 [A/G] NM_177444,NM_003622,NM_001198915,NM_001198916 PPFIBP1,PPFIBP1,PPFIBP1,PPFIBP1 EXON Missense_V117I,Missense_V117I,Silent,Missense_V117I exm991312 12 27800660 [A/C] NM_177444,NM_003622,NM_001198915,NM_001198916 PPFIBP1,PPFIBP1,PPFIBP1,PPFIBP1 Silent,Silent,Silent,Silent exm991313 12 27800661 [C/G] NM_177444,NM_003622,NM_001198915,NM_001198916 PPFIBP1,PPFIBP1,PPFIBP1,PPFIBP1 Silent,Silent,Silent,Silent exm991314 12 27800662 [G/C] NM_177444,NM_003622,NM_001198915,NM_001198916 PPFIBP1,PPFIBP1,PPFIBP1,PPFIBP1 EXON Missense_V120L,Missense_V120L,Silent,Missense_V120L exm991329 12 27802975 [G/C] NM_177444,NM_003622,NM_001198915,NM_001198916 PPFIBP1,PPFIBP1,PPFIBP1,PPFIBP1 EXON Missense_Q168H,Missense_Q168H,Missense_Q15H,Missense_Q168H exm991350 12 27820164 [G/C] NM_177444,NM_003622,NM_001198915,NM_001198916 PPFIBP1,PPFIBP1,PPFIBP1,PPFIBP1 EXON Missense_G370R,Missense_G353R,Missense_G217R,Missense_G339R exm991353 12 27824452 [G/C] NM_177444,NM_003622,NM_001198915,NM_001198916 PPFIBP1,PPFIBP1,PPFIBP1,PPFIBP1 EXON Missense_P429R,Missense_P412R,Missense_P276R,Missense_P398R exm991356 12 27825403 [T/C] NM_177444,NM_003622,NM_001198915,NM_001198916 PPFIBP1,PPFIBP1,PPFIBP1,PPFIBP1 EXON Missense_C453R,Missense_C436R,Missense_C300R,Missense_C422R exm991357 12 27825407 [A/G] NM_177444,NM_003622,NM_001198915,NM_001198916 PPFIBP1,PPFIBP1,PPFIBP1,PPFIBP1 EXON Missense_D454G,Missense_D437G,Missense_D301G,Missense_D423G exm991369 12 27829493 [A/C] NM_177444,NM_003622,NM_001198915,NM_001198916 PPFIBP1,PPFIBP1,PPFIBP1,PPFIBP1 EXON Missense_I532L,Missense_I515L,Missense_I379L,Missense_I501L exm991373 12 27832476 [A/G] NM_177444,NM_003622,NM_001198915,NM_001198916 PPFIBP1,PPFIBP1,PPFIBP1,PPFIBP1 EXON Missense_R563Q,Missense_R557Q,Missense_R410Q,Missense_R532Q exm2274574 12 27832498 [C/G] NM_177444,NM_003622,NM_001198915,NM_001198916 PPFIBP1,PPFIBP1,PPFIBP1,PPFIBP1 EXON Missense_N570K,Missense_N564K,Missense_N417K,Missense_N539K exm991386 12 27834595 [T/C] NM_177444,NM_003622,NM_001198915,NM_001198916 PPFIBP1,PPFIBP1,PPFIBP1,PPFIBP1 EXON Missense_T677M,Missense_T671M,Missense_T524M,Missense_T646M exm991397 12 27840420 [T/C] NM_177444,NM_003622,NM_001198915,NM_001198916 PPFIBP1,PPFIBP1,PPFIBP1,PPFIBP1 EXON Missense_R790W,Missense_R784W,Missense_R637W,Missense_R759W exm991398 12 27841260 [C/G] NM_177444,NM_003622,NM_001198915,NM_001198916 PPFIBP1,PPFIBP1,PPFIBP1,PPFIBP1 EXON Missense_K806N,Missense_K800N,Missense_K653N,Missense_K775N exm991400 12 27841273 [T/C] NM_177444,NM_003622,NM_001198915,NM_001198916 PPFIBP1,PPFIBP1,PPFIBP1,PPFIBP1 EXON Nonsense_R811X,Nonsense_R805X,Nonsense_R658X,Nonsense_R780X exm2220397 12 27841354 [A/G] NM_177444,NM_003622,NM_001198915,NM_001198916 PPFIBP1,PPFIBP1,PPFIBP1,PPFIBP1 EXON Missense_M838V,Missense_M832V,Missense_M685V,Missense_M807V exm991408 12 27842063 [A/C] NM_177444,NM_003622,NM_001198915,NM_001198916 PPFIBP1,PPFIBP1,PPFIBP1,PPFIBP1 EXON Missense_E877A,Missense_E871A,Missense_E724A,Missense_E846A exm991413 12 27844763 [G/C] NM_177444,NM_003622,NM_001198915,NM_001198916 PPFIBP1,PPFIBP1,PPFIBP1,PPFIBP1 EXON Missense_E929Q,Missense_E923Q,Missense_E776Q,Missense_E898Q exm991416 12 27844824 [A/G] NM_177444,NM_003622,NM_001198915,NM_001198916 PPFIBP1,PPFIBP1,PPFIBP1,PPFIBP1 EXON Missense_R949H,Missense_R943H,Missense_R796H,Missense_R918H exm991423 12 27845789 [A/G] NM_177444,NM_003622,NM_001198915,NM_001198916 PPFIBP1,PPFIBP1,PPFIBP1,PPFIBP1 EXON Missense_I1004V,Missense_I998V,Missense_I851V,Missense_I973V exm991437 12 27849666 [G/C] NM_001029874 REP15 EXON Missense_E57D exm991442 12 27849796 [A/G] NM_001029874 REP15 EXON Missense_N101D exm991443 12 27849820 [A/G] NM_001029874 REP15 EXON Missense_A109T exm991458 12 27863792 [A/C] NM_001190864,NM_021821 MRPS35,MRPS35 EXON Missense_L6I,Missense_L6I exm991461 12 27863803 [T/G] NM_001190864,NM_021821 MRPS35,MRPS35 EXON Missense_W9C,Missense_W9C exm991463 12 27863828 [T/A] NM_001190864,NM_021821 MRPS35,MRPS35 EXON Missense_T18S,Missense_T18S exm991473 12 27867727 [A/G] NM_001190864,NM_021821 MRPS35,MRPS35 EXON Missense_G43R,Missense_G43R exm991480 12 27877003 [A/G] NM_001190864,NM_021821 MRPS35,MRPS35 EXON Missense_A136T,Missense_A136T exm991496 12 27890497 [A/G] NM_001190864,NM_021821 MRPS35,MRPS35 EXON Missense_R183Q,Missense_D220N exm991497 12 27890508 [A/G] NM_001190864,NM_021821 MRPS35,MRPS35 EXON Missense_V187I,Synonymous_V223V exm991499 12 27890519 [A/C] NM_001190864,NM_021821 MRPS35,MRPS35 EXON Missense_N190K,Missense_T227K exm991507 12 27915699 [T/C] NM_001146221 MANSC4 EXON Missense_R332H exm991508 12 27915718 [T/A] NM_001146221 MANSC4 EXON Missense_S326T exm991513 12 27915912 [T/C] NM_001146221 MANSC4 EXON Missense_K261R exm2220401 12 27915976 [T/C] NM_001146221 MANSC4 EXON Missense_D240N exm991519 12 27916206 [A/G] NM_001146221 MANSC4 EXON Missense_T163M exm991520 12 27916224 [A/G] NM_001146221 MANSC4 EXON Missense_L157S exm991523 12 27916320 [A/G] NM_001146221 MANSC4 EXON Missense_P125L exm1765751 12 27933751 [A/T] NM_020782 KLHL42 EXON Missense_K163M exm991555 12 27934117 [T/C] NM_020782 KLHL42 EXON Missense_A285V exm2260026 12 27940158 [T/C] NM_020782 KLHL42 Silent exm-rs10842994 12 27965150 [T/C] exm2271702 12 28048658 [T/C] exm1765856 12 28116358 [G/C] NM_198965,NM_198966,NM_002820,NM_198964 PTHLH,PTHLH,PTHLH,PTHLH EXON Missense_D149E,Missense_D149E,Missense_D149E,Missense_D149E exm991597 12 28116467 [A/G] NM_198965,NM_198966,NM_002820,NM_198964 PTHLH,PTHLH,PTHLH,PTHLH EXON Missense_T113M,Missense_T113M,Missense_T113M,Missense_T113M exm2220403 12 28122893 [A/G] NM_198965,NM_198966,NM_002820,NM_198964 PTHLH,PTHLH,PTHLH,PTHLH EXON Silent,Silent,Silent,Silent exm-rs522958 12 28228567 [A/G] exm2267424 12 28240440 [A/G] exm991616 12 28412372 [A/G] NM_018318 CCDC91 EXON Missense_A36T exm991618 12 28458602 [T/C] NM_018318 CCDC91 EXON Missense_P44S exm2274576 12 28459684 [A/T] NM_018318 CCDC91 EXON Missense_S93T exm991625 12 28459769 [A/G] NM_018318 CCDC91 EXON Missense_D121G exm991626 12 28459796 [T/C] NM_018318 CCDC91 EXON Missense_S130F exm991629 12 28460621 [C/G] NM_018318 CCDC91 EXON Missense_G172A exm991631 12 28515383 [C/G] NM_018318 CCDC91 EXON Missense_Q197E exm-rs2638953 12 28534415 [C/G] NM_018318 CCDC91 Silent exm991637 12 28544291 [A/G] NM_018318 CCDC91 EXON Missense_I237V exm991638 12 28544301 [T/C] NM_018318 CCDC91 EXON Missense_I240T exm991640 12 28603112 [A/G] NM_018318 CCDC91 EXON Missense_M261V exm991641 12 28603122 [A/C] NM_018318 CCDC91 EXON Missense_T264K exm991649 12 28605426 [A/G] NM_018318 CCDC91 EXON Missense_V314M exm991659 12 28636997 [A/G] NM_018318 CCDC91 EXON Missense_A372T exm991665 12 28637090 [A/C] NM_018318 CCDC91 EXON Missense_Q403K exm2271703 12 28722756 [T/C] exm2267337 12 29253319 [A/G] exm2267425 12 29388772 [A/G] NM_001271783,NM_001271784,NM_018099 FAR2,FAR2,FAR2 Silent,Silent,Silent exm991675 12 29423410 [A/G] NM_001271783,NM_001271784,NM_018099 FAR2,FAR2,FAR2 EXON Missense_G10S,Silent,Missense_G10S exm991679 12 29423524 [T/G] NM_001271783,NM_001271784,NM_018099 FAR2,FAR2,FAR2 EXON Missense_A48S,Silent,Missense_A48S exm991694 12 29450007 [A/G] NM_001271783,NM_001271784,NM_018099 FAR2,FAR2,FAR2 EXON Missense_S140N,Missense_S43N,Missense_S140N exm1766630 12 29450116 [A/T] NM_001271783,NM_001271784,NM_018099 FAR2,FAR2,FAR2 EXON Missense_K176N,Missense_K79N,Missense_K176N exm991711 12 29464822 [T/G] NM_001271783,NM_001271784,NM_018099 FAR2,FAR2,FAR2 EXON Missense_K298N,Missense_K201N,Missense_K298N exm991713 12 29469774 [G/C] NM_001271783,NM_001271784,NM_018099 FAR2,FAR2,FAR2 EXON Missense_G319A,Missense_G222A,Missense_G319A exm991724 12 29474808 [T/C] NM_001271783,NM_001271784,NM_018099 FAR2,FAR2,FAR2 EXON Missense_T403M,Missense_T306M,Missense_T403M exm991732 12 29485650 [T/C] NM_001271783,NM_001271784,NM_018099 FAR2,FAR2,FAR2 EXON Missense_R459C,Missense_R362C,Missense_R459C exm991735 12 29486617 [T/C] NM_001271783,NM_001271784,NM_018099 FAR2,FAR2,FAR2 EXON Missense_R480C,Missense_R383C,Missense_R480C exm991748 12 29502012 [A/G] NM_016570 ERGIC2 EXON Missense_H243Y exm991783 12 29592280 [T/C] NR_073172,NR_073171,NR_073170,NM_183378 LOC101055625,LOC101055625,LOC101055625,OVCH1 EXON Silent,Silent,Silent,Missense_H1082R exm991784 12 29592303 [A/C] NR_073172,NR_073171,NR_073170,NM_183378 LOC101055625,LOC101055625,LOC101055625,OVCH1 EXON Silent,Silent,Silent,Missense_N1074K exm991788 12 29596324 [T/C] NR_073172,NR_073171,NR_073170,NM_183378 LOC101055625,LOC101055625,LOC101055625,OVCH1 EXON Silent,Silent,Silent,Missense_E1043K exm991791 12 29596365 [T/C] NR_073172,NR_073171,NR_073170,NM_183378 LOC101055625,LOC101055625,LOC101055625,OVCH1 EXON Silent,Silent,Silent,Missense_K1029R exm991792 12 29596371 [A/G] NR_073172,NR_073171,NR_073170,NM_183378 LOC101055625,LOC101055625,LOC101055625,OVCH1 EXON Silent,Silent,Silent,Missense_P1027L exm991797 12 29597166 [G/C] NR_073172,NR_073171,NR_073170,NM_183378 LOC101055625,LOC101055625,LOC101055625,OVCH1 EXON Silent,Silent,Silent,Missense_E977Q exm991802 12 29598292 [A/G] NR_073172,NR_073171,NR_073170,NM_183378 LOC101055625,LOC101055625,LOC101055625,OVCH1 EXON Silent,Silent,Silent,Missense_P934S exm991810 12 29604392 [G/C] NR_073172,NR_073171,NR_073170,NM_183378 LOC101055625,LOC101055625,LOC101055625,OVCH1 EXON Silent,Silent,Silent,Missense_A881P exm991811 12 29604409 [T/C] NR_073172,NR_073171,NR_073170,NM_183378 LOC101055625,LOC101055625,LOC101055625,OVCH1 EXON Silent,Silent,Silent,Nonsense_W875X exm991815 12 29607858 [A/G] NR_073172,NR_073171,NR_073170,NM_183378 LOC101055625,LOC101055625,LOC101055625,OVCH1 EXON Silent,Silent,Silent,Missense_S816P exm991817 12 29608238 [A/G] NR_073172,NR_073171,NR_073170,NM_183378 LOC101055625,LOC101055625,LOC101055625,OVCH1 EXON Silent,Silent,Silent,Missense_P794L exm991818 12 29608245 [A/G] NR_073172,NR_073171,NR_073170,NM_183378 LOC101055625,LOC101055625,LOC101055625,OVCH1 EXON Silent,Silent,Silent,Missense_W792R exm991819 12 29614807 [T/C] NR_073172,NR_073171,NR_073170,NM_183378 LOC101055625,LOC101055625,LOC101055625,OVCH1 EXON Silent,Silent,Silent,Missense_G754R exm991823 12 29614941 [T/C] NR_073172,NR_073171,NR_073170,NM_183378 LOC101055625,LOC101055625,LOC101055625,OVCH1 EXON Silent,Silent,Silent,Missense_D709G exm991826 12 29617550 [A/G] NR_073172,NR_073171,NR_073170,NM_183378 LOC101055625,LOC101055625,LOC101055625,OVCH1 EXON Silent,Silent,Silent,Missense_S672F exm991827 12 29617572 [T/C] NR_073172,NR_073171,NR_073170,NM_183378 LOC101055625,LOC101055625,LOC101055625,OVCH1 EXON Silent,Silent,Silent,Missense_I665V exm991832 12 29624754 [T/C] NR_073172,NM_183378 LOC101055625,OVCH1 EXON Silent,Missense_A613T exm991833 12 29624781 [T/C] NR_073172,NM_183378 LOC101055625,OVCH1 EXON Silent,Missense_I604V exm991840 12 29625968 [G/C] NR_073172,NM_183378 LOC101055625,OVCH1 EXON Silent,Missense_L557V exm991841 12 29626006 [A/G] NR_073172,NM_183378 LOC101055625,OVCH1 EXON Silent,Missense_P544L exm991855 12 29630081 [A/G] NR_073172,NM_183378 LOC101055625,OVCH1 EXON Silent,Missense_T444I exm991856 12 29630102 [A/G] NR_073172,NM_183378 LOC101055625,OVCH1 EXON Silent,Missense_P437L exm991862 12 29630328 [T/C] NR_073172,NM_183378 LOC101055625,OVCH1 EXON Silent,Missense_D398N exm991863 12 29630351 [A/G] NR_073172,NM_183378 LOC101055625,OVCH1 EXON Silent,Missense_V390A exm991868 12 29630470 [A/G] NR_073172,NM_183378 LOC101055625,OVCH1 EXON Silent,Missense_R371C exm991873 12 29631821 [A/G] NR_073172,NM_183378 LOC101055625,OVCH1 EXON Silent,Missense_V339A exm991876 12 29639186 [T/C] NR_073172,NM_183378 LOC101055625,OVCH1 EXON Silent,Missense_K330E exm991882 12 29640701 [A/G] NM_183378 OVCH1 EXON Missense_H273Y exm991888 12 29642573 [A/C] NM_183378 OVCH1 EXON Missense_W228G exm1766800 12 29648262 [A/C] NM_183378 OVCH1 EXON Missense_S137I exm991902 12 29648265 [A/G] NM_183378 OVCH1 EXON Missense_M136T exm991904 12 29648291 [A/C] NM_183378 OVCH1 EXON Missense_H127Q exm991905 12 29648295 [G/C] NM_183378 OVCH1 EXON Missense_T126S exm991907 12 29648364 [A/G] NM_183378 OVCH1 EXON Missense_T103I exm991908 12 29648367 [A/G] NM_183378 OVCH1 EXON Missense_V102A exm991914 12 29649557 [T/C] NM_183378 OVCH1 EXON Missense_V39M exm991915 12 29649589 [T/C] NM_183378 OVCH1 EXON Missense_R28H exm991921 12 29659798 [T/C] NM_175861,NM_001193451 TMTC1,TMTC1 EXON Missense_R769Q,Missense_R877Q exm991922 12 29659799 [A/G] NM_175861,NM_001193451 TMTC1,TMTC1 EXON Nonsense_R769X,Nonsense_R877X exm991928 12 29665037 [A/C] NM_175861,NM_001193451 TMTC1,TMTC1 EXON Missense_V708G,Missense_V816G exm991937 12 29669394 [T/C] NM_175861,NM_001193451 TMTC1,TMTC1 EXON Missense_Q624R,Missense_Q732R exm991944 12 29670494 [T/C] NM_175861,NM_001193451 TMTC1,TMTC1 EXON Missense_V571M,Missense_V679M exm991945 12 29670504 [A/G] NM_175861,NM_001193451 TMTC1,TMTC1 EXON Synonymous_R567R,Synonymous_R675R exm991948 12 29673599 [T/C] NM_175861,NM_001193451 TMTC1,TMTC1 EXON Missense_D506N,Missense_D614N exm1766880 12 29709853 [T/C] NM_175861,NM_001193451 TMTC1,TMTC1 EXON Missense_Q430R,Missense_Q538R exm991963 12 29709922 [T/C] NM_175861,NM_001193451 TMTC1,TMTC1 EXON Missense_R407H,Missense_R515H exm991964 12 29709923 [A/G] NM_175861,NM_001193451 TMTC1,TMTC1 EXON Missense_R407C,Missense_R515C exm2271704 12 29727218 [T/G] NM_175861,NM_001193451 TMTC1,TMTC1 Silent,Silent exm991981 12 29757135 [A/G] NM_175861,NM_001193451 TMTC1,TMTC1 EXON Missense_A301V,Missense_A409V exm1766980 12 29786124 [T/C] NM_175861,NM_001193451 TMTC1,TMTC1 EXON Missense_V254I,Missense_V362I exm991993 12 29786255 [A/G] NM_175861,NM_001193451 TMTC1,TMTC1 EXON Missense_S210F,Missense_S318F exm992004 12 29904704 [T/C] NM_175861,NM_001193451 TMTC1,TMTC1 EXON Missense_R170Q,Missense_R278Q exm992011 12 29904791 [A/C] NM_175861,NM_001193451 TMTC1,TMTC1 EXON Missense_L141R,Missense_L249R exm992012 12 29908642 [A/G] NM_175861,NM_001193451 TMTC1,TMTC1 EXON Missense_S136L,Missense_S244L exm992034 12 29920961 [A/C] NM_175861,NM_001193451 TMTC1,TMTC1 EXON Missense_V9G,Missense_V117G exm2274577 12 29936426 [T/G] NM_175861,NM_001193451 TMTC1,TMTC1 EXON Silent,Missense_T87P exm2271705 12 30098770 [T/C] exm-rs2046383 12 30104142 [T/G] exm-rs1463605 12 30113883 [C/G] exm2267426 12 30427049 [A/G] exm2271706 12 30707190 [T/C] exm1767165 12 30783861 [A/C] NM_006390,NM_001190995 IPO8,IPO8 EXON Missense_G1016V,Missense_G811V exm992042 12 30784840 [T/C] NM_006390,NM_001190995 IPO8,IPO8 EXON Missense_R1002Q,Missense_R797Q exm992049 12 30787059 [T/C] NM_006390,NM_001190995 IPO8,IPO8 EXON Missense_N953D,Missense_N748D exm992053 12 30787094 [A/G] NM_006390,NM_001190995 IPO8,IPO8 EXON Missense_A941V,Missense_A736V exm992063 12 30789960 [T/C] NM_006390,NM_001190995 IPO8,IPO8 EXON Missense_R884Q,Missense_R679Q exm992064 12 30789975 [T/C] NM_006390,NM_001190995 IPO8,IPO8 EXON Missense_R879K,Missense_R674K exm992066 12 30789981 [T/G] NM_006390,NM_001190995 IPO8,IPO8 EXON Missense_A877D,Missense_A672D exm992070 12 30792458 [T/C] NM_006390,NM_001190995 IPO8,IPO8 EXON Missense_C827Y,Missense_C622Y exm992082 12 30809648 [T/C] NM_006390,NM_001190995 IPO8,IPO8 EXON Missense_I640V,Missense_I435V exm992088 12 30814077 [G/C] NM_006390,NM_001190995 IPO8,IPO8 EXON Missense_E627Q,Missense_E422Q exm992092 12 30814184 [T/C] NM_006390,NM_001190995 IPO8,IPO8 EXON Missense_K591R,Missense_K386R exm2220425 12 30816483 [A/T] NM_006390,NM_001190995 IPO8,IPO8 EXON Missense_M512L,Missense_M307L exm992102 12 30816513 [T/C] NM_006390,NM_001190995 IPO8,IPO8 EXON Missense_A502T,Missense_A297T exm992104 12 30816522 [T/C] NM_006390,NM_001190995 IPO8,IPO8 EXON Missense_V499I,Missense_V294I exm992111 12 30818697 [T/C] NM_006390,NM_001190995 IPO8,IPO8 EXON Missense_H435R,Missense_H230R exm992135 12 30829440 [T/C] NM_006390,NM_001190995 IPO8,IPO8 EXON Missense_V241I,Missense_V36I exm992137 12 30833513 [T/C] NM_006390 IPO8 EXON Missense_R181H exm992142 12 30834736 [T/C] NM_006390 IPO8 EXON Missense_M113I exm992148 12 30837288 [A/C] NM_006390 IPO8 EXON Missense_Q90H exm992155 12 30848557 [T/C] NM_006390 IPO8 EXON Missense_A9T exm992174 12 30863255 [T/C] NM_032156,NM_023925,NR_038177,NM_001002259,NM_001206856 CAPRIN2,CAPRIN2,CAPRIN2,CAPRIN2,CAPRIN2 EXON Silent,Missense_V939I,Silent,Missense_V989I,Silent exm992179 12 30864505 [A/G] NM_032156,NM_023925,NR_038177,NM_001002259,NM_001206856 CAPRIN2,CAPRIN2,CAPRIN2,CAPRIN2,CAPRIN2 EXON Missense_S936L,Missense_S887L,Silent,Missense_S937L,Missense_S881L exm992185 12 30866733 [A/G] NM_032156,NM_023925,NR_038177,NM_001002259,NM_001206856 CAPRIN2,CAPRIN2,CAPRIN2,CAPRIN2,CAPRIN2 EXON Missense_P912S,Missense_P863S,Silent,Missense_P913S,Missense_P857S exm2250861 12 30867912 [A/C] NM_032156,NM_023925,NR_038177,NM_001002259,NM_001206856 CAPRIN2,CAPRIN2,CAPRIN2,CAPRIN2,CAPRIN2 EXON Synonymous_R876R,Synonymous_R827R,Silent,Synonymous_R877R,Synonymous_R821R exm992191 12 30867916 [T/C] NM_032156,NM_023925,NR_038177,NM_001002259,NM_001206856 CAPRIN2,CAPRIN2,CAPRIN2,CAPRIN2,CAPRIN2 EXON Missense_Y875C,Missense_Y826C,Silent,Missense_Y876C,Missense_Y820C exm992199 12 30869571 [T/G] NM_032156,NM_023925,NR_038177,NM_001002259,NM_001206856 CAPRIN2,CAPRIN2,CAPRIN2,CAPRIN2,CAPRIN2 EXON Missense_Q779K,Missense_Q730K,Silent,Missense_Q779K,Missense_Q744K exm2250862 12 30872061 [A/G] NM_032156,NM_023925,NR_038177,NM_001002259,NM_001206856 CAPRIN2,CAPRIN2,CAPRIN2,CAPRIN2,CAPRIN2 EXON Synonymous_S749S,Silent,Silent,Synonymous_S749S,Synonymous_S714S exm992221 12 30877343 [T/C] NM_032156,NM_023925,NR_038177,NM_001002259,NM_001206856 CAPRIN2,CAPRIN2,CAPRIN2,CAPRIN2,CAPRIN2 EXON Missense_T650A,Missense_T650A,Silent,Missense_T650A,Missense_T650A exm992227 12 30878976 [C/G] NM_032156,NM_023925,NR_038177,NM_001002259,NM_001206856 CAPRIN2,CAPRIN2,CAPRIN2,CAPRIN2,CAPRIN2 EXON Missense_P610R,Missense_P610R,Silent,Missense_P610R,Missense_P610R exm992234 12 30881715 [T/C] NM_032156,NM_023925,NR_038177,NM_001002259,NM_001206856 CAPRIN2,CAPRIN2,CAPRIN2,CAPRIN2,CAPRIN2 EXON Missense_N550S,Missense_N550S,Silent,Missense_N550S,Missense_N550S exm992237 12 30881809 [T/C] NM_032156,NM_023925,NR_038177,NM_001002259,NM_001206856 CAPRIN2,CAPRIN2,CAPRIN2,CAPRIN2,CAPRIN2 EXON Missense_M519V,Missense_M519V,Silent,Missense_M519V,Missense_M519V exm992246 12 30882157 [A/G] NM_032156,NM_023925,NR_038177,NM_001002259,NM_001206856 CAPRIN2,CAPRIN2,CAPRIN2,CAPRIN2,CAPRIN2 EXON Missense_R403C,Missense_R403C,Silent,Missense_R403C,Missense_R403C exm992247 12 30882208 [T/C] NM_032156,NM_023925,NR_038177,NM_001002259,NM_001206856 CAPRIN2,CAPRIN2,CAPRIN2,CAPRIN2,CAPRIN2 EXON Missense_E386K,Missense_E386K,Silent,Missense_E386K,Missense_E386K exm992249 12 30882246 [T/C] NM_032156,NM_023925,NR_038177,NM_001002259,NM_001206856 CAPRIN2,CAPRIN2,CAPRIN2,CAPRIN2,CAPRIN2 EXON Missense_R373H,Missense_R373H,Silent,Missense_R373H,Missense_R373H exm992251 12 30883184 [T/G] NM_032156,NM_023925,NR_038177,NM_001002259,NM_001206856 CAPRIN2,CAPRIN2,CAPRIN2,CAPRIN2,CAPRIN2 EXON Missense_Q365K,Missense_Q365K,Silent,Missense_Q365K,Missense_Q365K exm992255 12 30884336 [A/G] NM_032156,NM_023925,NR_038177,NM_001002259,NM_001206856 CAPRIN2,CAPRIN2,CAPRIN2,CAPRIN2,CAPRIN2 EXON Missense_M334T,Missense_M334T,Silent,Missense_M334T,Missense_M334T exm1767345 12 30887977 [T/C] NM_032156,NM_023925,NR_038177,NM_001002259,NM_001206856 CAPRIN2,CAPRIN2,CAPRIN2,CAPRIN2,CAPRIN2 EXON Missense_Y245C,Missense_Y245C,Silent,Missense_Y245C,Missense_Y245C exm992260 12 30888001 [T/C] NM_032156,NM_023925,NR_038177,NM_001002259,NM_001206856 CAPRIN2,CAPRIN2,CAPRIN2,CAPRIN2,CAPRIN2 EXON Missense_K237R,Missense_K237R,Silent,Missense_K237R,Missense_K237R exm992273 12 30906358 [A/G] NM_032156,NM_023925,NR_038177,NM_001002259,NM_001206856 CAPRIN2,CAPRIN2,CAPRIN2,CAPRIN2,CAPRIN2 EXON Missense_P114S,Missense_P114S,Silent,Missense_P114S,Missense_P114S exm992274 12 30906372 [T/C] NM_032156,NM_023925,NR_038177,NM_001002259,NM_001206856 CAPRIN2,CAPRIN2,CAPRIN2,CAPRIN2,CAPRIN2 EXON Missense_S109N,Missense_S109N,Silent,Missense_S109N,Missense_S109N exm992277 12 30906486 [A/G] NM_032156,NM_023925,NR_038177,NM_001002259,NM_001206856 CAPRIN2,CAPRIN2,CAPRIN2,CAPRIN2,CAPRIN2 EXON Missense_S71L,Missense_S71L,Silent,Missense_S71L,Missense_S71L exm2271707 12 30979116 [T/C] exm992286 12 31106941 [A/C] NM_001080509 TSPAN11 EXON Missense_T6P exm992294 12 31116820 [A/C] NM_001080509 TSPAN11 EXON Nonsense_Y48X exm992297 12 31116851 [A/G] NM_001080509 TSPAN11 EXON Missense_A59T exm992298 12 31116857 [A/G] NM_001080509 TSPAN11 EXON Missense_A61T exm992303 12 31116881 [A/G] NM_001080509 TSPAN11 EXON Missense_V69I exm992307 12 31116951 [T/C] NM_001080509 TSPAN11 EXON Missense_T92M exm992334 12 31131520 [T/C] NM_001080509 TSPAN11 EXON Missense_F101L exm992340 12 31132532 [A/G] NM_001080509 TSPAN11 EXON Missense_R128Q exm992350 12 31135488 [A/G] NM_001080509 TSPAN11 EXON Missense_S160G exm992365 12 31136038 [T/C] NM_001080509 TSPAN11 EXON Missense_H219Y exm992366 12 31136068 [A/G] NM_001080509 TSPAN11 EXON Missense_G229R exm992375 12 31144837 [A/G] NM_001080509 TSPAN11 EXON Missense_R250Q exm992503 12 31249834 [T/C] NM_030653,NM_001257145,NM_152438,NM_004399,NM_001257144 DDX11,DDX11,DDX11,DDX11,DDX11 EXON Nonsense_R558X,Nonsense_R532X,Nonsense_R558X,Nonsense_R558X,Nonsense_R558X exm992585 12 31256795 [A/G] NM_030653,NM_001257145,NM_152438,NM_004399,NM_001257144 DDX11,DDX11,DDX11,DDX11,DDX11 EXON Silent,Silent,Missense_R914H,Silent,Missense_R914H exm-rs12423595 12 31410284 [T/C] exm992757 12 31446744 [T/C] NM_001135812,NM_021238,NM_001135811 FAM60A,FAM60A,FAM60A EXON Missense_R117H,Missense_R117H,Missense_R117H exm2264467 12 31499671 [A/C] exm992767 12 31540619 [T/C] NM_144973 DENND5B EXON Missense_N1248S exm992773 12 31542431 [C/G] NM_144973 DENND5B EXON Missense_E1156D exm992790 12 31562198 [A/G] NM_144973 DENND5B EXON Synonymous_I934I exm992792 12 31566371 [T/C] NM_144973 DENND5B EXON Missense_K894E exm992793 12 31566374 [T/G] NM_144973 DENND5B EXON Missense_T893P exm2250867 12 31577526 [A/G] NM_144973 DENND5B EXON Synonymous_I778I exm992812 12 31595851 [T/C] NM_144973 DENND5B EXON Missense_I624V exm992814 12 31600503 [T/C] NM_144973 DENND5B EXON Missense_I610M exm992825 12 31604978 [A/G] NM_144973 DENND5B EXON Missense_R509C exm992826 12 31605044 [T/G] NM_144973 DENND5B EXON Missense_H487N exm992828 12 31605094 [T/C] NM_144973 DENND5B EXON Missense_K470R exm992839 12 31613214 [A/G] NM_144973 DENND5B EXON Missense_H336Y exm992858 12 31648826 [T/C] NM_144973 DENND5B EXON Missense_R52K exm992875 12 31815095 [T/C] NM_001135864,NM_173802,NM_001135863 METTL20,METTL20,METTL20 EXON Missense_R70W,Missense_R70W,Missense_R70W exm992882 12 31815167 [T/G] NM_001135864,NM_173802,NM_001135863 METTL20,METTL20,METTL20 EXON Missense_A94S,Missense_A94S,Missense_A94S exm992884 12 31815202 [A/G] NM_001135864,NM_173802,NM_001135863 METTL20,METTL20,METTL20 Silent,Silent,Silent exm992888 12 31819097 [A/G] NM_001135864,NM_173802,NM_001135863 METTL20,METTL20,METTL20 EXON Missense_I131V,Missense_I131V,Missense_I131V exm1767946 12 31820650 [A/G] NM_001135864,NM_173802,NM_001135863 METTL20,METTL20,METTL20 EXON Missense_N172S,Missense_N172S,Missense_N172S exm992891 12 31820697 [A/G] NM_001135864,NM_173802,NM_001135863 METTL20,METTL20,METTL20 EXON Missense_D188N,Missense_D188N,Missense_D188N exm1767950 12 31820716 [A/T] NM_001135864,NM_173802,NM_001135863 METTL20,METTL20,METTL20 EXON Missense_D194V,Missense_D194V,Missense_D194V exm992893 12 31820718 [G/C] NM_001135864,NM_173802,NM_001135863 METTL20,METTL20,METTL20 EXON Missense_L195V,Missense_L195V,Missense_L195V exm992896 12 31820772 [T/C] NM_001135864,NM_173802,NM_001135863 METTL20,METTL20,METTL20 EXON Nonsense_R213X,Nonsense_R213X,Nonsense_R213X exm992897 12 31820796 [T/C] NM_001135864,NM_173802,NM_001135863 METTL20,METTL20,METTL20 EXON Missense_R221W,Missense_R221W,Missense_R221W exm2273490 12 31944576 [A/G] NM_001013699 H3F3C EXON Silent exm1768010 12 31944944 [A/G] NM_001013699 H3F3C EXON Missense_R53C exm992946 12 31944985 [T/G] NM_001013699 H3F3C EXON Missense_H39P exm992948 12 31945000 [T/C] NM_001013699 H3F3C EXON Missense_C34Y exm2250870 12 31973527 [A/G] exm992953 12 32133908 [A/C] NM_018169 KIAA1551 EXON Missense_P7T exm1768029 12 32134011 [A/G] NM_018169 KIAA1551 EXON Missense_S41N exm992961 12 32134122 [T/C] NM_018169 KIAA1551 EXON Missense_M78T exm992963 12 32134169 [A/G] NM_018169 KIAA1551 EXON Missense_T94A exm992965 12 32134207 [A/C] NM_018169 KIAA1551 EXON Missense_H106Q exm992967 12 32134233 [T/C] NM_018169 KIAA1551 EXON Missense_T115I exm992970 12 32134328 [T/C] NM_018169 KIAA1551 EXON Missense_P147S exm992977 12 32134413 [A/G] NM_018169 KIAA1551 EXON Missense_R175Q exm992980 12 32134493 [A/G] NM_018169 KIAA1551 EXON Missense_I202V exm992985 12 32134578 [C/G] NM_018169 KIAA1551 EXON Missense_T230S exm992988 12 32134638 [T/C] NM_018169 KIAA1551 EXON Missense_L250P exm1768037 12 32134775 [T/C] NM_018169 KIAA1551 EXON Missense_H296Y exm992997 12 32134796 [A/G] NM_018169 KIAA1551 EXON Missense_M303V exm1768038 12 32134803 [T/C] NM_018169 KIAA1551 EXON Missense_V305A exm992999 12 32134813 [T/G] NM_018169 KIAA1551 EXON Missense_S308R exm993000 12 32134815 [A/G] NM_018169 KIAA1551 EXON Missense_R309Q exm1768039 12 32134886 [A/G] NM_018169 KIAA1551 EXON Missense_T333A exm993006 12 32134926 [A/G] NM_018169 KIAA1551 EXON Missense_S346N exm993007 12 32134943 [A/G] NM_018169 KIAA1551 EXON Missense_S352G exm993008 12 32134945 [A/T] NM_018169 KIAA1551 EXON Missense_S352R exm993009 12 32134954 [A/C] NM_018169 KIAA1551 EXON Missense_R355S exm993011 12 32134976 [A/G] NM_018169 KIAA1551 EXON Missense_T363A exm2250871 12 32135077 [T/C] NM_018169 KIAA1551 EXON Synonymous_D396D exm993012 12 32135077 [T/C] NM_018169 KIAA1551 EXON Synonymous_D396D exm993016 12 32135174 [A/G] NM_018169 KIAA1551 EXON Missense_M429V exm993018 12 32135186 [A/T] NM_018169 KIAA1551 EXON Missense_S433T exm993025 12 32135339 [A/G] NM_018169 KIAA1551 EXON Missense_M484V exm993030 12 32135436 [G/C] NM_018169 KIAA1551 EXON Missense_P516R exm993032 12 32135441 [T/C] NM_018169 KIAA1551 EXON Missense_S518P exm993042 12 32135634 [T/C] NM_018169 KIAA1551 EXON Missense_M582T exm993044 12 32135651 [T/C] NM_018169 KIAA1551 EXON Missense_L588F exm993048 12 32135721 [T/C] NM_018169 KIAA1551 EXON Missense_P611L exm993049 12 32135726 [A/G] NM_018169 KIAA1551 EXON Missense_S613G exm993052 12 32135769 [T/A] NM_018169 KIAA1551 EXON Missense_L627Q exm993054 12 32135828 [A/G] NM_018169 KIAA1551 EXON Missense_N647D exm993055 12 32135829 [A/G] NM_018169 KIAA1551 EXON Missense_N647S exm993056 12 32135831 [A/T] NM_018169 KIAA1551 EXON Missense_S648T exm993057 12 32135832 [A/C] NM_018169 KIAA1551 EXON Missense_S648Y exm993064 12 32135996 [A/G] NM_018169 KIAA1551 EXON Missense_V703I exm993066 12 32136024 [A/G] NM_018169 KIAA1551 EXON Missense_H712R exm993073 12 32136222 [A/G] NM_018169 KIAA1551 EXON Missense_G778E exm1768045 12 32136312 [T/C] NM_018169 KIAA1551 EXON Missense_A808V exm993076 12 32136320 [A/G] NM_018169 KIAA1551 EXON Missense_T811A exm993087 12 32136480 [T/C] NM_018169 KIAA1551 EXON Missense_S864L exm993091 12 32136536 [A/G] NM_018169 KIAA1551 EXON Missense_T883A exm993097 12 32136750 [T/C] NM_018169 KIAA1551 EXON Missense_F954S exm993098 12 32136831 [T/C] NM_018169 KIAA1551 EXON Missense_S981L exm2220447 12 32136915 [A/G] NM_018169 KIAA1551 EXON Missense_D1009G exm993102 12 32136918 [A/C] NM_018169 KIAA1551 EXON Missense_T1010K exm993110 12 32137067 [A/G] NM_018169 KIAA1551 EXON Missense_K1060E exm993114 12 32137104 [A/G] NM_018169 KIAA1551 EXON Missense_R1072H exm993125 12 32137362 [A/G] NM_018169 KIAA1551 EXON Missense_R1158H exm993136 12 32137512 [C/G] NM_018169 KIAA1551 EXON Missense_S1208C exm993137 12 32137565 [A/G] NM_018169 KIAA1551 EXON Missense_V1226I exm993146 12 32137764 [A/G] NM_018169 KIAA1551 EXON Missense_H1292R exm993147 12 32137790 [A/G] NM_018169 KIAA1551 EXON Missense_E1301K exm993151 12 32137854 [A/G] NM_018169 KIAA1551 EXON Missense_R1322Q exm993153 12 32137881 [T/C] NM_018169 KIAA1551 EXON Missense_S1331L exm993156 12 32137901 [A/G] NM_018169 KIAA1551 EXON Missense_T1338A exm993159 12 32137944 [A/C] NM_018169 KIAA1551 EXON Missense_S1352Y exm1768063 12 32138027 [A/G] NM_018169 KIAA1551 EXON Missense_G1380R exm993164 12 32138043 [T/C] NM_018169 KIAA1551 EXON Missense_M1385T exm993166 12 32138082 [A/C] NM_018169 KIAA1551 EXON Missense_K1398T exm993170 12 32138187 [T/C] NM_018169 KIAA1551 EXON Missense_T1433M exm993178 12 32138325 [T/C] NM_018169 KIAA1551 EXON Missense_M1479T exm993179 12 32138345 [A/G] NM_018169 KIAA1551 EXON Missense_V1486M exm993181 12 32138379 [A/G] NM_018169 KIAA1551 EXON Missense_K1497R exm993182 12 32138381 [A/C] NM_018169 KIAA1551 EXON Missense_H1498N exm1768071 12 32138447 [A/G] NM_018169 KIAA1551 EXON Missense_K1520E exm993197 12 32138720 [A/G] NM_018169 KIAA1551 EXON Missense_K1611E exm993200 12 32138843 [T/C] NM_018169 KIAA1551 EXON Missense_R1652W exm1768103 12 32260338 [A/G] NM_001714,NM_001003398 BICD1,BICD1 EXON Missense_T25A,Missense_T25A exm2267339 12 32296621 [A/G] NM_001714,NM_001003398 BICD1,BICD1 Silent,Silent exm-rs10844154 12 32380501 [A/C] NM_001714,NM_001003398 BICD1,BICD1 Silent,Silent exm-rs708224 12 32436409 [A/G] NM_001714,NM_001003398 BICD1,BICD1 Silent,Silent exm1768134 12 32458676 [G/C] NM_001714,NM_001003398 BICD1,BICD1 EXON Missense_E209Q,Missense_E209Q exm1768136 12 32458863 [A/G] NM_001714,NM_001003398 BICD1,BICD1 EXON Missense_K271R,Missense_K271R exm-rs261902 12 32476727 [A/G] NM_001714,NM_001003398 BICD1,BICD1 Silent,Silent exm993250 12 32480401 [T/C] NM_001714,NM_001003398 BICD1,BICD1 EXON Missense_R338W,Missense_R338W exm993251 12 32480474 [T/C] NM_001714,NM_001003398 BICD1,BICD1 EXON Missense_T362M,Missense_T362M exm993253 12 32480488 [T/C] NM_001714,NM_001003398 BICD1,BICD1 EXON Missense_R367W,Missense_R367W exm993254 12 32480489 [A/G] NM_001714,NM_001003398 BICD1,BICD1 EXON Missense_R367Q,Missense_R367Q exm993259 12 32480579 [A/G] NM_001714,NM_001003398 BICD1,BICD1 EXON Missense_R397Q,Missense_R397Q exm993264 12 32480852 [A/G] NM_001714,NM_001003398 BICD1,BICD1 EXON Missense_Q488R,Missense_Q488R exm993266 12 32480885 [A/G] NM_001714,NM_001003398 BICD1,BICD1 EXON Missense_S499N,Missense_S499N exm2274578 12 32490633 [A/G] NM_001714,NM_001003398 BICD1,BICD1 EXON Missense_S818N,Missense_S818N exm993301 12 32491752 [A/G] NM_001714,NM_001003398 BICD1,BICD1 EXON Missense_R868H,Silent exm993309 12 32530512 [T/G] NM_001714,NM_001003398 BICD1,BICD1 EXON Missense_S960I,Silent exm993325 12 32735037 [T/C] NM_139241 FGD4 EXON Missense_T79I exm993329 12 32735130 [T/C] NM_139241 FGD4 EXON Missense_L110P exm993339 12 32735280 [A/G] NM_139241 FGD4 EXON Missense_G160D exm993348 12 32751465 [A/G] NM_139241 FGD4 EXON Missense_N212S exm993350 12 32754252 [T/C] NM_139241 FGD4 EXON Missense_S244L exm2250876 12 32754253 [A/G] NM_139241 FGD4 EXON Synonymous_S244S exm993374 12 32772641 [A/G] NM_139241 FGD4 EXON Missense_M450V exm993375 12 32772659 [A/C] NM_139241 FGD4 EXON Missense_P456T exm993389 12 32778663 [A/C] NM_139241 FGD4 EXON Missense_P571T exm1768249 12 32778664 [A/C] NM_139241 FGD4 EXON Missense_P571H exm993402 12 32793261 [A/G] NM_139241 FGD4 EXON Missense_M699V exm993408 12 32793315 [A/G] NM_139241 FGD4 EXON Missense_V717M exm993427 12 32860302 [A/G] NM_005690,NM_012062,NM_012063 DNM1L,DNM1L,DNM1L EXON Synonymous_G84G,Synonymous_G84G,Synonymous_G84G exm993431 12 32861094 [T/C] NM_005690,NM_012062,NM_012063 DNM1L,DNM1L,DNM1L EXON Missense_T102M,Missense_T102M,Missense_T102M exm993436 12 32863915 [A/G] NM_005690,NM_012062,NM_012063 DNM1L,DNM1L,DNM1L EXON Missense_N141S,Missense_N141S,Missense_N141S exm993465 12 32886737 [T/C] NM_005690,NM_012062,NM_012063 DNM1L,DNM1L,DNM1L EXON Missense_I512T,Missense_I512T,Missense_I512T exm993469 12 32890842 [T/C] NM_005690,NM_012062,NM_012063 DNM1L,DNM1L,DNM1L EXON Silent,Missense_P547L,Silent exm993472 12 32890851 [A/C] NM_005690,NM_012062,NM_012063 DNM1L,DNM1L,DNM1L EXON Silent,Missense_A550D,Silent exm1768290 12 32890877 [G/C] NM_005690,NM_012062,NM_012063 DNM1L,DNM1L,DNM1L Silent,Silent,Silent exm993484 12 32893124 [T/A] NM_005690,NM_012062,NM_012063 DNM1L,DNM1L,DNM1L EXON Missense_I575F,Missense_I612F,Missense_I586F exm993530 12 32903808 [T/C] NM_001040436 YARS2 EXON Synonymous_R316R exm1768310 12 32906865 [C/G] NM_001040436 YARS2 EXON Missense_D312H exm993534 12 32906871 [A/G] NM_001040436 YARS2 EXON Missense_P310S exm993549 12 32908237 [A/C] NM_001040436 YARS2 EXON Missense_G191V exm993550 12 32908274 [T/G] NM_001040436 YARS2 EXON Missense_K179Q exm993568 12 32908705 [T/G] NM_001040436 YARS2 EXON Missense_A35D exm993581 12 32945612 [G/C] NM_001005242,NM_004572 PKP2,PKP2 EXON Missense_W804S,Missense_W848S exm993583 12 32949042 [T/C] NM_001005242,NM_004572 PKP2,PKP2 Silent,Silent exm993585 12 32949047 [T/C] NM_001005242,NM_004572 PKP2,PKP2 EXON Missense_D785N,Missense_D829N exm993594 12 32949101 [T/G] NM_001005242,NM_004572 PKP2,PKP2 EXON Missense_R767S,Missense_R811S exm993596 12 32949140 [T/C] NM_001005242,NM_004572 PKP2,PKP2 EXON Missense_T754A,Missense_T798A exm993604 12 32955414 [A/C] NM_001005242,NM_004572 PKP2,PKP2 EXON Missense_G697V,Missense_G741V exm993613 12 32974348 [T/C] NM_001005242,NM_004572 PKP2,PKP2 EXON Missense_N652S,Missense_N696S exm993625 12 32977026 [T/C] NM_001005242,NM_004572 PKP2,PKP2 EXON Missense_V543I,Missense_V587I exm993629 12 32993981 [T/C] NM_001005242,NM_004572 PKP2,PKP2 EXON Missense_N513D,Missense_N557D exm993633 12 32994058 [A/C] NM_001005242,NM_004572 PKP2,PKP2 EXON Missense_I487S,Missense_I531S exm993636 12 32994073 [A/G] NM_001005242,NM_004572 PKP2,PKP2 EXON Missense_T482M,Missense_T526M exm993661 12 32996248 [T/C] NM_001005242,NM_004572 PKP2,PKP2 Silent,Silent exm993672 12 33021917 [G/C] NM_001005242,NM_004572 PKP2,PKP2 EXON Missense_A372P,Missense_A372P exm993673 12 33021934 [A/G] NM_001005242,NM_004572 PKP2,PKP2 EXON Missense_L366P,Missense_L366P exm993674 12 33021938 [T/C] NM_001005242,NM_004572 PKP2,PKP2 EXON Missense_M365V,Missense_M365V exm993679 12 33030802 [T/C] NM_001005242,NM_004572 PKP2,PKP2 EXON Missense_T338A,Missense_T338A exm993683 12 33030840 [A/G] NM_001005242,NM_004572 PKP2,PKP2 EXON Missense_A325V,Missense_A325V exm993690 12 33030900 [T/C] NM_001005242,NM_004572 PKP2,PKP2 EXON Missense_G305E,Missense_G305E exm993693 12 33030988 [A/G] NM_001005242,NM_004572 PKP2,PKP2 EXON Missense_P276S,Missense_P276S exm993697 12 33031023 [A/G] NM_001005242,NM_004572 PKP2,PKP2 EXON Missense_A264V,Missense_A264V exm993714 12 33031883 [T/G] NM_001005242,NM_004572 PKP2,PKP2 EXON Missense_P103T,Missense_P103T exm993716 12 33031888 [T/C] NM_001005242,NM_004572 PKP2,PKP2 EXON Missense_R101H,Missense_R101H exm993717 12 33031889 [A/G] NM_001005242,NM_004572 PKP2,PKP2 EXON Missense_R101C,Missense_R101C exm2271708 12 33035441 [T/C] NM_001005242,NM_004572 PKP2,PKP2 Silent,Silent exm2260041 12 33058062 [A/G] exm2250882 12 33510115 [A/G] exm993732 12 33529782 [T/G] NM_198992 SYT10 EXON Missense_P519T exm993735 12 33529823 [A/G] NM_198992 SYT10 EXON Missense_A505V exm993739 12 33532804 [T/G] NM_198992 SYT10 EXON Missense_H488P exm993745 12 33535373 [G/C] NM_198992 SYT10 EXON Missense_N427K exm993747 12 33535395 [G/C] NM_198992 SYT10 EXON Missense_T420S exm993764 12 33560174 [T/C] NM_198992 SYT10 EXON Missense_I209M exm993773 12 33579212 [T/C] NM_198992 SYT10 EXON Missense_V124I exm1768586 12 33579218 [G/C] NM_198992 SYT10 EXON Missense_P122A exm993782 12 33579331 [T/C] NM_198992 SYT10 EXON Nonsense_W84X exm-rs9300212 12 33701166 [T/C] exm2271833 12 33902150 [T/G] exm2271709 12 33985843 [T/C] exm993811 12 34176952 [T/G] NM_032834 ALG10 EXON Missense_I76S exm993813 12 34176969 [A/G] NM_032834 ALG10 EXON Missense_I82V exm2220463 12 34177071 [T/C] NM_032834 ALG10 EXON Missense_C116R exm993838 12 34179233 [A/G] NM_032834 ALG10 EXON Missense_V269I exm2250890 12 34340168 [T/C] exm2271834 12 34642579 [T/G] exm2267341 12 38514872 [A/G] exm2250919 12 38711658 [A/G] NM_001013620 ALG10B Silent exm993912 12 38712142 [G/C] NM_001013620 ALG10B EXON Missense_A84G exm993923 12 38713970 [G/C] NM_001013620 ALG10B EXON Nonsense_S126X exm1770117 12 38714159 [A/G] NM_001013620 ALG10B EXON Missense_N189S exm993927 12 38714185 [A/G] NM_001013620 ALG10B EXON Missense_G198R exm993933 12 38714351 [T/G] NM_001013620 ALG10B EXON Missense_L253W exm993945 12 38714651 [A/G] NM_001013620 ALG10B EXON Missense_H353R exm993948 12 38714741 [A/G] NM_001013620 ALG10B EXON Missense_S383N exm993957 12 38714945 [T/C] NM_001013620 ALG10B EXON Missense_T451I exm-rs6582630 12 38743508 [A/G] exm2271836 12 39046064 [T/C] NM_153634 CPNE8 EXON Silent exm994017 12 39170075 [T/C] NM_153634 CPNE8 EXON Missense_I146V exm2250923 12 39508651 [T/C] exm2260056 12 39599937 [A/G] exm1770187 12 39695319 [T/C] NM_001173463,NM_017641,NM_001173465,NM_001173464 KIF21A,KIF21A,KIF21A,KIF21A EXON Missense_I1595V,Missense_I1619V,Missense_I1579V,Missense_I1632V exm994050 12 39696936 [A/C] NM_001173463,NM_017641,NM_001173465,NM_001173464 KIF21A,KIF21A,KIF21A,KIF21A EXON Missense_M1484R,Missense_M1508R,Missense_M1468R,Missense_M1521R exm994053 12 39698668 [A/C] NM_001173463,NM_017641,NM_001173465,NM_001173464 KIF21A,KIF21A,KIF21A,KIF21A EXON Missense_S1468R,Missense_S1492R,Missense_S1452R,Missense_S1505R exm994059 12 39703413 [T/A] NM_001173463,NM_017641,NM_001173465,NM_001173464 KIF21A,KIF21A,KIF21A,KIF21A EXON Missense_S1381T,Missense_S1405T,Missense_S1365T,Missense_S1418T exm994067 12 39705242 [A/T] NM_001173463,NM_017641,NM_001173465,NM_001173464 KIF21A,KIF21A,KIF21A,KIF21A EXON Missense_D1321V,Missense_D1345V,Missense_D1305V,Missense_D1358V exm994070 12 39709031 [T/C] NM_001173463,NM_017641,NM_001173465,NM_001173464 KIF21A,KIF21A,KIF21A,KIF21A EXON Silent,Missense_R1307K,Silent,Missense_R1320K exm994076 12 39711929 [T/G] NM_001173463,NM_017641,NM_001173465,NM_001173464 KIF21A,KIF21A,KIF21A,KIF21A EXON Missense_N1265T,Missense_N1272T,Missense_N1249T,Missense_N1285T exm994077 12 39711947 [T/C] NM_001173463,NM_017641,NM_001173465,NM_001173464 KIF21A,KIF21A,KIF21A,KIF21A EXON Missense_R1259Q,Missense_R1266Q,Missense_R1243Q,Missense_R1279Q exm994080 12 39713776 [A/C] NM_001173463,NM_017641,NM_001173465,NM_001173464 KIF21A,KIF21A,KIF21A,KIF21A EXON Missense_E1217D,Missense_E1224D,Missense_E1201D,Missense_E1237D exm994081 12 39713781 [G/C] NM_001173463,NM_017641,NM_001173465,NM_001173464 KIF21A,KIF21A,KIF21A,KIF21A EXON Missense_P1216A,Missense_P1223A,Missense_P1200A,Missense_P1236A exm994083 12 39716500 [C/G] NM_001173463,NM_017641,NM_001173465,NM_001173464 KIF21A,KIF21A,KIF21A,KIF21A EXON Missense_P1194R,Missense_P1201R,Missense_P1178R,Missense_P1214R exm994090 12 39720097 [T/C] NM_001173463,NM_017641,NM_001173465,NM_001173464 KIF21A,KIF21A,KIF21A,KIF21A EXON Missense_A1104T,Missense_A1111T,Missense_A1088T,Missense_A1124T exm994093 12 39724052 [A/G] NM_001173463,NM_017641,NM_001173465,NM_001173464 KIF21A,KIF21A,KIF21A,KIF21A EXON Silent,Missense_V1098A,Missense_V1075A,Missense_V1111A exm994103 12 39725496 [T/C] NM_001173463,NM_017641,NM_001173465,NM_001173464 KIF21A,KIF21A,KIF21A,KIF21A EXON Missense_N1037S,Missense_N1037S,Missense_N1014S,Missense_N1050S exm994112 12 39726167 [T/C] NM_001173463,NM_017641,NM_001173465,NM_001173464 KIF21A,KIF21A,KIF21A,KIF21A EXON Missense_R954K,Missense_R954K,Missense_R931K,Missense_R967K exm994118 12 39726491 [A/G] NM_001173463,NM_017641,NM_001173465,NM_001173464 KIF21A,KIF21A,KIF21A,KIF21A EXON Missense_R907C,Missense_R907C,Missense_R884C,Missense_R920C exm994127 12 39726713 [A/G] NM_001173463,NM_017641,NM_001173465,NM_001173464 KIF21A,KIF21A,KIF21A,KIF21A EXON Missense_P882L,Missense_P882L,Missense_P859L,Missense_P895L exm994128 12 39726716 [A/G] NM_001173463,NM_017641,NM_001173465,NM_001173464 KIF21A,KIF21A,KIF21A,KIF21A EXON Missense_T881M,Missense_T881M,Missense_T858M,Missense_T894M exm994131 12 39726737 [A/G] NM_001173463,NM_017641,NM_001173465,NM_001173464 KIF21A,KIF21A,KIF21A,KIF21A EXON Missense_A874V,Missense_A874V,Missense_A851V,Missense_A887V exm994156 12 39735348 [A/C] NM_001173463,NM_017641,NM_001173465,NM_001173464 KIF21A,KIF21A,KIF21A,KIF21A EXON Missense_G614V,Missense_G614V,Missense_G614V,Missense_G627V exm994160 12 39735394 [T/C] NM_001173463,NM_017641,NM_001173465,NM_001173464 KIF21A,KIF21A,KIF21A,KIF21A EXON Missense_D599N,Missense_D599N,Missense_D599N,Missense_D612N exm994170 12 39745624 [T/C] NM_001173463,NM_017641,NM_001173465,NM_001173464 KIF21A,KIF21A,KIF21A,KIF21A EXON Missense_K543R,Missense_K543R,Missense_K543R,Missense_K543R exm994184 12 39751148 [T/C] NM_001173463,NM_017641,NM_001173465,NM_001173464 KIF21A,KIF21A,KIF21A,KIF21A EXON Missense_R436H,Missense_R436H,Missense_R436H,Missense_R436H exm994187 12 39751215 [G/C] NM_001173463,NM_017641,NM_001173465,NM_001173464 KIF21A,KIF21A,KIF21A,KIF21A EXON Missense_G414R,Missense_G414R,Missense_G414R,Missense_G414R exm994201 12 39760223 [T/A] NM_001173463,NM_017641,NM_001173465,NM_001173464 KIF21A,KIF21A,KIF21A,KIF21A EXON Missense_S278T,Missense_S278T,Missense_S278T,Missense_S278T exm994206 12 39760947 [A/G] NM_001173463,NM_017641,NM_001173465,NM_001173464 KIF21A,KIF21A,KIF21A,KIF21A EXON Missense_L207S,Missense_L207S,Missense_L207S,Missense_L207S exm994208 12 39760959 [T/C] NM_001173463,NM_017641,NM_001173465,NM_001173464 KIF21A,KIF21A,KIF21A,KIF21A EXON Missense_Q203R,Missense_Q203R,Missense_Q203R,Missense_Q203R exm1770252 12 39761807 [A/G] NM_001173463,NM_017641,NM_001173465,NM_001173464 KIF21A,KIF21A,KIF21A,KIF21A EXON Missense_F160L,Missense_F160L,Missense_F160L,Missense_F160L exm994216 12 39763566 [A/C] NM_001173463,NM_017641,NM_001173465,NM_001173464 KIF21A,KIF21A,KIF21A,KIF21A EXON Missense_A139S,Missense_A139S,Missense_A139S,Missense_A139S exm994223 12 39764002 [A/G] NM_001173463,NM_017641,NM_001173465,NM_001173464 KIF21A,KIF21A,KIF21A,KIF21A EXON Missense_P36S,Missense_P36S,Missense_P36S,Missense_P36S exm994233 12 39973395 [T/C] NM_005164 ABCD2 EXON Missense_D607N exm994236 12 39979971 [A/T] NM_005164 ABCD2 EXON Missense_I592K exm994237 12 39980001 [T/C] NM_005164 ABCD2 EXON Missense_R582H exm2250925 12 39980063 [T/G] NM_005164 ABCD2 EXON Synonymous_V561V exm994246 12 39998642 [T/C] NM_005164 ABCD2 EXON Missense_V443I exm994265 12 40012861 [A/G] NM_005164 ABCD2 EXON Missense_T186I exm994269 12 40013042 [A/C] NM_005164 ABCD2 EXON Missense_G126C exm2250926 12 40013153 [A/G] NM_005164 ABCD2 EXON Synonymous_L89L exm994279 12 40013292 [G/C] NM_005164 ABCD2 EXON Missense_K42N exm994281 12 40013392 [C/G] NM_005164 ABCD2 EXON Missense_A9G exm994288 12 40034770 [A/C] NM_001031748 C12orf40 EXON Missense_I13L exm994291 12 40037684 [T/C] NM_001031748 C12orf40 EXON Missense_M56T exm994303 12 40041697 [A/G] NM_001031748 C12orf40 EXON Missense_R163K exm994307 12 40044126 [A/G] NM_001031748 C12orf40 EXON Missense_R219Q exm994317 12 40076736 [T/A] NM_001031748 C12orf40 EXON Missense_D337V exm994319 12 40076751 [T/C] NM_001031748 C12orf40 EXON Missense_T342I exm994320 12 40076760 [A/G] NM_001031748 C12orf40 EXON Missense_C345Y exm1770313 12 40076931 [G/C] NM_001031748 C12orf40 EXON Missense_S402C exm2267344 12 40084126 [A/G] NM_001031748 C12orf40 Silent exm994327 12 40085875 [T/G] NM_001031748 C12orf40 EXON Missense_Y458D exm994329 12 40085906 [A/T] NM_001031748 C12orf40 EXON Missense_K468M exm994334 12 40114592 [A/T] NM_001031748 C12orf40 EXON Missense_S500T exm1770319 12 40114628 [T/G] NM_001031748 C12orf40 EXON Missense_D512Y exm994339 12 40114707 [T/A] NM_001031748 C12orf40 EXON Missense_D538V exm994344 12 40114781 [A/G] NM_001031748 C12orf40 EXON Missense_T563A exm994346 12 40114796 [T/C] NM_001031748 C12orf40 EXON Nonsense_Q568X exm994350 12 40114983 [A/G] NM_001031748 C12orf40 EXON Missense_N630S exm1770322 12 40115030 [A/C] NM_001031748 C12orf40 EXON Missense_Q646K exm994352 12 40115033 [A/G] NM_001031748 C12orf40 EXON Missense_E647K exm994366 12 40223917 [T/G] NM_052885 SLC2A13 EXON Missense_A478E exm2274579 12 40258580 [A/T] NM_052885 SLC2A13 EXON Missense_T435S exm994372 12 40258678 [A/G] NM_052885 SLC2A13 EXON Missense_T402I exm994375 12 40265659 [A/G] NM_052885 SLC2A13 EXON Missense_V380A exm2271837 12 40340849 [T/C] NM_052885 SLC2A13 Silent exm994384 12 40345122 [T/C] NM_052885 SLC2A13 EXON Missense_R324Q exm2220474 12 40345154 [G/C] NM_052885 SLC2A13 EXON Missense_I313M exm994388 12 40422173 [T/G] NM_052885 SLC2A13 EXON Missense_N285K exm994392 12 40422282 [C/G] NM_052885 SLC2A13 EXON Missense_A249G exm-rs1994090 12 40428561 [T/G] NM_052885 SLC2A13 Silent exm2250931 12 40441900 [T/G] NM_052885 SLC2A13 EXON Synonymous_A223A exm994403 12 40499132 [A/G] NM_052885 SLC2A13 EXON Missense_A160V exm994417 12 40499594 [T/C] NM_052885 SLC2A13 EXON Missense_S6N exm2271714 12 40593403 [T/C] exm-rs11175593 12 40601940 [T/C] exm994421 12 40619082 [A/G] NM_198578 LRRK2 EXON Missense_R50H exm-rs1491942 12 40620808 [G/C] NM_198578 LRRK2 Silent exm994431 12 40626185 [A/G] NM_198578 LRRK2 EXON Missense_Q116R exm994432 12 40626187 [T/C] NM_198578 LRRK2 Silent exm994436 12 40629436 [T/C] NM_198578 LRRK2 EXON Missense_L119P exm994445 12 40631873 [G/C] NM_198578 LRRK2 EXON Missense_G180A exm994461 12 40645075 [A/G] NM_198578 LRRK2 EXON Missense_E334K exm994472 12 40646786 [T/C] NM_198578 LRRK2 EXON Missense_A419V exm994481 12 40653340 [T/C] NM_198578 LRRK2 EXON Missense_R493C exm994487 12 40657700 [C/G] NM_198578 LRRK2 EXON Missense_N551K exm994495 12 40668468 [A/T] NM_198578 LRRK2 EXON Missense_L580F exm994512 12 40671989 [A/G] NM_198578 LRRK2 EXON Missense_I723V exm994517 12 40677699 [T/C] NM_198578 LRRK2 EXON Missense_P755L exm994520 12 40677813 [T/G] NM_198578 LRRK2 EXON Missense_R793M exm994526 12 40681240 [A/G] NM_198578 LRRK2 EXON Missense_N863S exm994529 12 40687354 [A/C] NM_198578 LRRK2 EXON Missense_E899D exm1770496 12 40687431 [A/G] NM_198578 LRRK2 EXON Missense_C925Y exm994551 12 40692281 [T/G] NM_198578 LRRK2 EXON Missense_Q1111H exm994561 12 40697802 [A/G] NM_198578 LRRK2 EXON Missense_A1215T exm994569 12 40699593 [C/G] NM_198578 LRRK2 EXON Missense_P1262A exm1770507 12 40699748 [T/A] NM_198578 LRRK2 EXON Nonsense_C1313X exm1770510 12 40702269 [T/G] NM_198578 LRRK2 EXON Missense_R1320S exm994577 12 40702283 [A/G] NM_198578 LRRK2 EXON Missense_R1325Q exm994583 12 40702420 [A/G] NM_198578 LRRK2 EXON Missense_I1371V exm994585 12 40702474 [A/G] NM_198578 LRRK2 EXON Missense_V1389I exm994586 12 40702911 [A/G] NM_198578 LRRK2 EXON Missense_R1398H exm994588 12 40702947 [T/C] NM_198578 LRRK2 EXON Missense_T1410M exm1770519 12 40704252 [T/C] NM_198578 LRRK2 EXON Missense_P1446L exm994595 12 40704263 [A/G] NM_198578 LRRK2 EXON Missense_V1450I exm994603 12 40707778 [A/G] NM_198578 LRRK2 EXON Missense_R1514Q exm994606 12 40707849 [T/C] NM_198578 LRRK2 EXON Missense_R1538C exm994608 12 40707861 [T/C] NM_198578 LRRK2 EXON Missense_P1542S exm994622 12 40713899 [T/C] NM_198578 LRRK2 EXON Missense_M1646T exm994623 12 40713901 [A/T] NM_198578 LRRK2 EXON Missense_S1647T exm994637 12 40715839 [T/C] NM_198578 LRRK2 EXON Nonsense_R1725X exm994658 12 40717058 [T/C] NM_198578 LRRK2 EXON Missense_M1869T exm994671 12 40734202 [A/G] NM_198578 LRRK2 EXON Missense_G2019S exm994677 12 40740686 [A/G] NM_198578 LRRK2 EXON Missense_N2081D exm994694 12 40745525 [A/G] NM_198578 LRRK2 EXON Missense_Y2189C exm994710 12 40753146 [A/G] NM_198578 LRRK2 EXON Missense_T2310A exm994711 12 40753147 [T/C] NM_198578 LRRK2 EXON Missense_T2310M exm994716 12 40757211 [T/C] NM_198578 LRRK2 EXON Missense_Y2346H exm994717 12 40757242 [T/C] NM_198578 LRRK2 EXON Missense_T2356I exm994721 12 40757328 [A/G] NM_198578 LRRK2 EXON Missense_G2385R exm994727 12 40758652 [T/C] NM_198578 LRRK2 EXON Missense_M2397T exm1770572 12 40760846 [T/C] NM_198578 LRRK2 EXON Missense_R2477W exm994737 12 40760847 [A/G] NM_198578 LRRK2 EXON Missense_R2477Q exm-rs11564258 12 40792300 [A/G] exm2267345 12 40868767 [A/G] exm994923 12 41316108 [T/C] NM_001843,NM_001256063,NM_001256064,NM_175038 CNTN1,CNTN1,CNTN1,CNTN1 EXON Missense_M93T,Missense_M93T,Missense_M93T,Missense_M82T exm994931 12 41323744 [A/G] NM_001843,NM_001256063,NM_001256064,NM_175038 CNTN1,CNTN1,CNTN1,CNTN1 EXON Missense_S215G,Missense_S215G,Missense_S215G,Missense_S204G exm994944 12 41327666 [A/G] NM_001843,NM_001256063,NM_001256064,NM_175038 CNTN1,CNTN1,CNTN1,CNTN1 EXON Missense_R324K,Missense_R324K,Missense_R324K,Missense_R313K exm994946 12 41330603 [T/C] NM_001843,NM_001256063,NM_001256064,NM_175038 CNTN1,CNTN1,CNTN1,CNTN1 EXON Missense_H336Y,Missense_H336Y,Missense_H336Y,Missense_H325Y exm1770727 12 41330610 [A/G] NM_001843,NM_001256063,NM_001256064,NM_175038 CNTN1,CNTN1,CNTN1,CNTN1 EXON Missense_N338S,Missense_N338S,Missense_N338S,Missense_N327S exm994948 12 41330621 [A/G] NM_001843,NM_001256063,NM_001256064,NM_175038 CNTN1,CNTN1,CNTN1,CNTN1 EXON Missense_V342M,Missense_V342M,Missense_V342M,Missense_V331M exm994949 12 41330692 [T/G] NM_001843,NM_001256063,NM_001256064,NM_175038 CNTN1,CNTN1,CNTN1,CNTN1 EXON Missense_L365F,Missense_L365F,Missense_L365F,Missense_L354F exm994953 12 41333138 [A/G] NM_001843,NM_001256063,NM_001256064,NM_175038 CNTN1,CNTN1,CNTN1,CNTN1 EXON Synonymous_A410A,Synonymous_A410A,Synonymous_A410A,Synonymous_A399A exm994954 12 41333159 [T/G] NM_001843,NM_001256063,NM_001256064,NM_175038 CNTN1,CNTN1,CNTN1,CNTN1 EXON Missense_M417I,Missense_M417I,Missense_M417I,Missense_M406I exm994961 12 41333277 [A/G] NM_001843,NM_001256063,NM_001256064,NM_175038 CNTN1,CNTN1,CNTN1,CNTN1 EXON Missense_N457D,Missense_N457D,Missense_N457D,Missense_N446D exm2274580 12 41337503 [A/G] NM_001843,NM_001256063,NM_001256064,NM_175038 CNTN1,CNTN1,CNTN1,CNTN1 EXON Missense_S495N,Missense_S495N,Missense_S495N,Missense_S484N exm2220482 12 41352977 [T/C] NM_001843,NM_001256063,NM_001256064,NM_175038 CNTN1,CNTN1,CNTN1,CNTN1 EXON Missense_T582I,Missense_T582I,Missense_T582I,Missense_T571I exm994991 12 41410623 [A/G] NM_001843,NM_175038 CNTN1,CNTN1 EXON Missense_S775N,Missense_S764N exm1770769 12 41419033 [A/G] NM_001843,NM_175038 CNTN1,CNTN1 EXON Missense_E869K,Missense_E858K exm995015 12 41422970 [T/C] NM_001843,NM_175038 CNTN1,CNTN1 EXON Missense_R977C,Missense_R966C exm995017 12 41463763 [A/G] NM_001843,NM_175038 CNTN1,CNTN1 EXON Missense_A995T,Missense_A984T exm2267430 12 41508644 [A/G] exm995039 12 41585261 [T/A] NM_001164595 PDZRN4 EXON Missense_D217V exm995042 12 41585332 [A/G] NM_001164595 PDZRN4 EXON Missense_G241S exm995049 12 41587983 [A/T] NM_001164595 PDZRN4 EXON Missense_I279N exm2271715 12 41589330 [T/C] NM_001164595 PDZRN4 Silent exm-rs1880887 12 41721430 [T/C] NM_001164595 PDZRN4 Silent exm2271716 12 41831174 [T/C] NM_001164595 PDZRN4 Silent exm995054 12 41900262 [A/G] NM_001164595,NM_013377 PDZRN4,PDZRN4 EXON Missense_N283S,Missense_N25S exm995055 12 41900272 [A/T] NM_001164595,NM_013377 PDZRN4,PDZRN4 EXON Missense_D286E,Missense_D28E exm995062 12 41900463 [A/G] NM_001164595,NM_013377 PDZRN4,PDZRN4 EXON Missense_R350H,Missense_R92H exm995063 12 41900475 [T/C] NM_001164595,NM_013377 PDZRN4,PDZRN4 EXON Missense_P354L,Missense_P96L exm995071 12 41946464 [A/G] NM_001164595,NM_013377 PDZRN4,PDZRN4 EXON Missense_E404K,Missense_E146K exm995072 12 41946474 [A/G] NM_001164595,NM_013377 PDZRN4,PDZRN4 EXON Missense_R407H,Missense_R149H exm995074 12 41946516 [A/G] NM_001164595,NM_013377 PDZRN4,PDZRN4 EXON Missense_R421Q,Missense_R163Q exm995076 12 41946539 [A/G] NM_001164595,NM_013377 PDZRN4,PDZRN4 EXON Missense_G429S,Missense_G171S exm995081 12 41949522 [A/C] NM_001164595,NM_013377 PDZRN4,PDZRN4 EXON Missense_A442D,Missense_A184D exm995083 12 41949530 [A/G] NM_001164595,NM_013377 PDZRN4,PDZRN4 EXON Missense_G445S,Missense_G187S exm1770955 12 41961613 [A/G] NM_001164595,NM_013377 PDZRN4,PDZRN4 EXON Missense_R499K,Missense_R241K exm995092 12 41961662 [T/A] NM_001164595,NM_013377 PDZRN4,PDZRN4 EXON Missense_H515Q,Missense_H257Q exm995093 12 41961666 [A/G] NM_001164595,NM_013377 PDZRN4,PDZRN4 EXON Missense_E517K,Missense_E259K exm-rs1458175 12 41965861 [A/C] NM_001164595,NM_013377 PDZRN4,PDZRN4 Silent,Silent exm995097 12 41966199 [C/G] NM_001164595,NM_013377 PDZRN4,PDZRN4 EXON Missense_D540H,Missense_D282H exm1770959 12 41966268 [A/C] NM_001164595,NM_013377 PDZRN4,PDZRN4 EXON Synonymous_R563R,Synonymous_R305R exm995101 12 41966299 [A/C] NM_001164595,NM_013377 PDZRN4,PDZRN4 EXON Missense_A573E,Missense_A315E exm995104 12 41966307 [A/G] NM_001164595,NM_013377 PDZRN4,PDZRN4 EXON Missense_D576N,Missense_D318N exm995112 12 41966451 [T/C] NM_001164595,NM_013377 PDZRN4,PDZRN4 EXON Missense_C624R,Missense_C366R exm995115 12 41966487 [A/C] NM_001164595,NM_013377 PDZRN4,PDZRN4 EXON Missense_K636Q,Missense_K378Q exm995116 12 41966494 [A/G] NM_001164595,NM_013377 PDZRN4,PDZRN4 EXON Missense_R638Q,Missense_R380Q exm995118 12 41966536 [T/C] NM_001164595,NM_013377 PDZRN4,PDZRN4 EXON Missense_I652T,Missense_I394T exm995123 12 41966673 [A/G] NM_001164595,NM_013377 PDZRN4,PDZRN4 EXON Missense_D698N,Missense_D440N exm995133 12 41966841 [T/C] NM_001164595,NM_013377 PDZRN4,PDZRN4 EXON Missense_R754C,Missense_R496C exm995134 12 41966877 [T/C] NM_001164595,NM_013377 PDZRN4,PDZRN4 EXON Missense_L766F,Missense_L508F exm995140 12 41967003 [A/G] NM_001164595,NM_013377 PDZRN4,PDZRN4 EXON Missense_E808K,Missense_E550K exm995141 12 41967043 [A/G] NM_001164595,NM_013377 PDZRN4,PDZRN4 EXON Missense_K821R,Missense_K563R exm995143 12 41967079 [A/G] NM_001164595,NM_013377 PDZRN4,PDZRN4 EXON Missense_Y833C,Missense_Y575C exm995148 12 41967208 [T/G] NM_001164595,NM_013377 PDZRN4,PDZRN4 EXON Missense_C876F,Missense_C618F exm995153 12 41967502 [A/G] NM_001164595,NM_013377 PDZRN4,PDZRN4 EXON Missense_S974N,Missense_S716N exm-rs871392 12 42171982 [T/C] exm2267431 12 42226876 [A/G] exm995166 12 42481607 [C/G] NM_001099650,NM_173601 GXYLT1,GXYLT1 EXON Missense_R404T,Missense_R435T exm995171 12 42481670 [T/C] NM_001099650,NM_173601 GXYLT1,GXYLT1 EXON Missense_C383Y,Missense_C414Y exm995174 12 42481688 [T/A] NM_001099650,NM_173601 GXYLT1,GXYLT1 EXON Missense_K377I,Missense_K408I exm2250944 12 42481732 [A/G] NM_001099650,NM_173601 GXYLT1,GXYLT1 EXON Synonymous_D362D,Synonymous_D393D exm995178 12 42491255 [T/C] NM_001099650,NM_173601 GXYLT1,GXYLT1 EXON Missense_A353T,Missense_A384T exm995180 12 42491287 [T/C] NM_001099650,NM_173601 GXYLT1,GXYLT1 EXON Missense_D342G,Missense_D373G exm2220490 12 42491798 [A/G] NM_001099650,NM_173601 GXYLT1,GXYLT1 EXON Missense_I270T,Missense_I301T exm995200 12 42499811 [A/G] NM_001099650,NM_173601 GXYLT1,GXYLT1 EXON Missense_P194S,Missense_P225S exm995212 12 42512830 [A/T] NM_001099650,NM_173601 GXYLT1,GXYLT1 EXON Missense_D122V,Missense_D153V exm995213 12 42512844 [A/C] NM_001099650,NM_173601 GXYLT1,GXYLT1 EXON Missense_H117Q,Missense_H148Q exm2271717 12 42523160 [T/G] NM_001099650,NM_173601 GXYLT1,GXYLT1 Silent,Silent exm995246 12 42538427 [C/G] NM_001099650,NM_173601 GXYLT1,GXYLT1 EXON Missense_V8L,Missense_V8L exm2220492 12 42604417 [T/C] NM_005748,NR_034000,NM_001190977,NM_001190979 YAF2,YAF2,YAF2,YAF2 EXON Silent,Silent,Silent,Missense_T53A exm995283 12 42711185 [T/C] NM_033114 ZCRB1 EXON Missense_R97Q exm995289 12 42711606 [T/C] NM_033114 ZCRB1 EXON Missense_A70T exm995301 12 42717859 [T/C] NM_033114 ZCRB1 EXON Missense_N16D exm995302 12 42717897 [T/C] NM_033114 ZCRB1 EXON Missense_G3D exm2274581 12 42745717 [G/C] NM_201438,NM_201440,NM_201439,NM_001143788,NM_001143787,NM_201515,NM_001143789,NM_016488 PPHLN1,PPHLN1,PPHLN1,PPHLN1,PPHLN1,PPHLN1,PPHLN1,PPHLN1 EXON Silent,Silent,Missense_P35A,Missense_P35A,Silent,Missense_P56A,Silent,Missense_P35A exm995319 12 42748965 [A/T] NM_201438,NM_201440,NM_201439,NM_001143788,NM_001143787,NM_201515,NM_001143789,NM_016488 PPHLN1,PPHLN1,PPHLN1,PPHLN1,PPHLN1,PPHLN1,PPHLN1,PPHLN1 EXON Missense_D46E,Missense_D46E,Missense_D80E,Missense_D80E,Missense_D25E,Missense_D101E,Missense_D25E,Missense_D80E exm995320 12 42748968 [A/C] NM_201438,NM_201440,NM_201439,NM_001143788,NM_001143787,NM_201515,NM_001143789,NM_016488 PPHLN1,PPHLN1,PPHLN1,PPHLN1,PPHLN1,PPHLN1,PPHLN1,PPHLN1 EXON Missense_E47D,Missense_E47D,Missense_E81D,Missense_E81D,Missense_E26D,Missense_E102D,Missense_E26D,Missense_E81D exm995328 12 42768715 [T/C] NM_201438,NM_201440,NM_201439,NM_001143788,NM_001143787,NM_201515,NM_001143789,NM_016488 PPHLN1,PPHLN1,PPHLN1,PPHLN1,PPHLN1,PPHLN1,PPHLN1,PPHLN1 EXON Missense_A83V,Missense_A83V,Missense_A117V,Missense_A117V,Missense_A62V,Missense_A138V,Missense_A62V,Missense_A117V exm2250946 12 42778746 [T/C] NM_201438,NM_201440,NM_201439,NM_001143788,NM_001143787,NM_201515,NM_001143789,NM_016488 PPHLN1,PPHLN1,PPHLN1,PPHLN1,PPHLN1,PPHLN1,PPHLN1,PPHLN1 EXON Synonymous_S138S,Synonymous_S138S,Synonymous_S172S,Silent,Synonymous_S117S,Synonymous_S193S,Silent,Synonymous_S172S exm995336 12 42778747 [A/G] NM_201438,NM_201440,NM_201439,NM_001143788,NM_001143787,NM_201515,NM_001143789,NM_016488 PPHLN1,PPHLN1,PPHLN1,PPHLN1,PPHLN1,PPHLN1,PPHLN1,PPHLN1 EXON Missense_V139M,Missense_V139M,Missense_V173M,Silent,Missense_V118M,Missense_V194M,Silent,Missense_V173M exm995338 12 42778751 [A/G] NM_201438,NM_201440,NM_201439,NM_001143788,NM_001143787,NM_201515,NM_001143789,NM_016488 PPHLN1,PPHLN1,PPHLN1,PPHLN1,PPHLN1,PPHLN1,PPHLN1,PPHLN1 EXON Missense_R140H,Missense_R140H,Missense_R174H,Silent,Missense_R119H,Missense_R195H,Silent,Missense_R174H exm995339 12 42778771 [T/C] NM_201438,NM_201440,NM_201439,NM_001143788,NM_001143787,NM_201515,NM_001143789,NM_016488 PPHLN1,PPHLN1,PPHLN1,PPHLN1,PPHLN1,PPHLN1,PPHLN1,PPHLN1 EXON Missense_R147W,Missense_R147W,Missense_R181W,Silent,Missense_R126W,Missense_R202W,Silent,Missense_R181W exm1771129 12 42792671 [C/G] NM_201438,NM_201440,NM_201439,NM_001143788,NM_001143787,NM_201515,NM_001143789,NM_016488 PPHLN1,PPHLN1,PPHLN1,PPHLN1,PPHLN1,PPHLN1,PPHLN1,PPHLN1 EXON Missense_P228A,Missense_P228A,Missense_P262A,Missense_P243A,Missense_P207A,Missense_P283A,Missense_P188A,Missense_P262A exm995349 12 42792800 [A/G] NM_201438,NM_201440,NM_201439,NM_001143788,NM_001143787,NM_201515,NM_001143789,NM_016488 PPHLN1,PPHLN1,PPHLN1,PPHLN1,PPHLN1,PPHLN1,PPHLN1,PPHLN1 EXON Missense_R271G,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm1771144 12 42836475 [A/C] NM_001143787,NM_016488 PPHLN1,PPHLN1 EXON Missense_P298T,Missense_P353T exm995366 12 42836502 [A/G] NM_001143787,NM_016488 PPHLN1,PPHLN1 EXON Missense_D307N,Missense_D362N exm995381 12 42839890 [T/C] NM_001143787,NM_016488 PPHLN1,PPHLN1 EXON Missense_P359L,Missense_P383L exm995383 12 42839923 [A/G] NM_001143787,NM_016488 PPHLN1,PPHLN1 EXON Missense_R370H,Missense_R394H exm995388 12 42840082 [A/C] NM_001143787,NM_016488 PPHLN1,PPHLN1 EXON Missense_N423T,Missense_N447T exm995389 12 42840083 [C/G] NM_001143787,NM_016488 PPHLN1,PPHLN1 EXON Missense_N423K,Missense_N447K exm995402 12 42853703 [A/G] NM_001144881,NM_001144882,NM_001144883,NM_153026 PRICKLE1,PRICKLE1,PRICKLE1,PRICKLE1 EXON Missense_P802S,Missense_P802S,Missense_P802S,Missense_P802S exm995404 12 42853727 [A/G] NM_001144881,NM_001144882,NM_001144883,NM_153026 PRICKLE1,PRICKLE1,PRICKLE1,PRICKLE1 EXON Missense_Y794H,Missense_Y794H,Missense_Y794H,Missense_Y794H exm995410 12 42853838 [T/C] NM_001144881,NM_001144882,NM_001144883,NM_153026 PRICKLE1,PRICKLE1,PRICKLE1,PRICKLE1 EXON Missense_E757K,Missense_E757K,Missense_E757K,Missense_E757K exm995413 12 42853871 [A/G] NM_001144881,NM_001144882,NM_001144883,NM_153026 PRICKLE1,PRICKLE1,PRICKLE1,PRICKLE1 EXON Missense_P746S,Missense_P746S,Missense_P746S,Missense_P746S exm995415 12 42853891 [A/G] NM_001144881,NM_001144882,NM_001144883,NM_153026 PRICKLE1,PRICKLE1,PRICKLE1,PRICKLE1 EXON Missense_S739F,Missense_S739F,Missense_S739F,Missense_S739F exm1771154 12 42853913 [T/C] NM_001144881,NM_001144882,NM_001144883,NM_153026 PRICKLE1,PRICKLE1,PRICKLE1,PRICKLE1 EXON Missense_G732R,Missense_G732R,Missense_G732R,Missense_G732R exm995450 12 42858506 [T/G] NM_001144881,NM_001144882,NM_001144883,NM_153026 PRICKLE1,PRICKLE1,PRICKLE1,PRICKLE1 EXON Missense_I444L,Missense_I444L,Missense_I444L,Missense_I444L exm995483 12 42863262 [A/G] NM_001144881,NM_001144882,NM_001144883,NM_153026 PRICKLE1,PRICKLE1,PRICKLE1,PRICKLE1 EXON Missense_V125A,Missense_V125A,Missense_V125A,Missense_V125A exm995484 12 42863266 [T/C] NM_001144881,NM_001144882,NM_001144883,NM_153026 PRICKLE1,PRICKLE1,PRICKLE1,PRICKLE1 EXON Missense_A124T,Missense_A124T,Missense_A124T,Missense_A124T exm995488 12 42864088 [A/G] NM_001144881,NM_001144882,NM_001144883,NM_153026 PRICKLE1,PRICKLE1,PRICKLE1,PRICKLE1 EXON Missense_I69T,Missense_I69T,Missense_I69T,Missense_I69T exm1771172 12 42866206 [A/G] NM_001144881,NM_001144882,NM_001144883,NM_153026 PRICKLE1,PRICKLE1,PRICKLE1,PRICKLE1 EXON Missense_P38L,Missense_P38L,Missense_P38L,Missense_P38L exm2271718 12 42908496 [T/C] NM_153026 PRICKLE1 Silent exm-rs1520832 12 43253415 [T/G] exm2271838 12 43258744 [T/C] exm2271719 12 43581323 [T/C] exm995503 12 43750375 [T/C] NM_025003 ADAMTS20 EXON Missense_N1852S exm995510 12 43769263 [C/G] NM_025003 ADAMTS20 EXON Missense_E1789Q exm995518 12 43770133 [T/C] NM_025003 ADAMTS20 EXON Missense_C1709Y exm995522 12 43770437 [A/G] NM_025003 ADAMTS20 EXON Missense_I1672T exm2220497 12 43771280 [T/C] NM_025003 ADAMTS20 EXON Missense_R1628Q exm995534 12 43771362 [T/C] NM_025003 ADAMTS20 EXON Missense_A1601T exm995537 12 43777426 [C/G] NM_025003 ADAMTS20 EXON Missense_L1578V exm995543 12 43777522 [A/G] NM_025003 ADAMTS20 EXON Missense_S1546P exm995548 12 43777753 [G/C] NM_025003 ADAMTS20 EXON Missense_Q1494E exm995565 12 43819337 [A/G] NM_025003 ADAMTS20 EXON Missense_H1422Y exm995571 12 43819477 [T/C] NM_025003 ADAMTS20 EXON Missense_G1375E exm995574 12 43821128 [A/T] NM_025003 ADAMTS20 EXON Missense_Y1364N exm995577 12 43821184 [A/G] NM_025003 ADAMTS20 EXON Missense_A1345V exm995586 12 43822156 [T/C] NM_025003 ADAMTS20 EXON Missense_S1278N exm995587 12 43822171 [A/G] NM_025003 ADAMTS20 EXON Missense_S1273F exm995590 12 43822322 [A/G] NM_025003 ADAMTS20 EXON Missense_C1223R exm995592 12 43822438 [A/G] NM_025003 ADAMTS20 EXON Synonymous_P1218P exm995618 12 43825259 [A/C] NM_025003 ADAMTS20 EXON Missense_V1046G exm995624 12 43826172 [A/G] NM_025003 ADAMTS20 EXON Nonsense_R1011X exm995625 12 43826192 [T/C] NM_025003 ADAMTS20 EXON Missense_N1004S exm995626 12 43826204 [T/C] NM_025003 ADAMTS20 EXON Missense_R1000H exm995641 12 43826590 [A/T] NM_025003 ADAMTS20 EXON Missense_E915D exm995644 12 43828117 [T/G] NM_025003 ADAMTS20 EXON Missense_D884A exm995645 12 43828141 [T/A] NM_025003 ADAMTS20 EXON Missense_K876M exm995655 12 43833518 [T/G] NM_025003 ADAMTS20 EXON Missense_H834N exm995680 12 43846199 [T/G] NM_025003 ADAMTS20 EXON Missense_R653S exm995685 12 43846407 [A/G] NM_025003 ADAMTS20 EXON Nonsense_R618X exm995689 12 43847711 [T/C] NM_025003 ADAMTS20 EXON Missense_E587K exm995690 12 43847725 [T/C] NM_025003 ADAMTS20 EXON Missense_R582H exm995698 12 43847812 [T/C] NM_025003 ADAMTS20 EXON Missense_R553H exm995708 12 43858456 [A/G] NM_025003 ADAMTS20 EXON Missense_Y483H exm995727 12 43886974 [T/G] NM_025003 ADAMTS20 EXON Missense_E317A exm995729 12 43887001 [A/C] NM_025003 ADAMTS20 EXON Missense_V308G exm995731 12 43887056 [C/G] NM_025003 ADAMTS20 EXON Missense_V290L exm995738 12 43896161 [T/G] NM_025003 ADAMTS20 EXON Missense_M221L exm995741 12 43925854 [A/G] NM_025003 ADAMTS20 EXON Missense_Y200H exm995743 12 43925865 [T/G] NM_025003 ADAMTS20 EXON Missense_Q196P exm995746 12 43925912 [T/G] NM_025003 ADAMTS20 EXON Missense_N180K exm995770 12 44124184 [T/C] NM_001098614,NM_001271826,NM_031292,NM_001098615 PUS7L,PUS7L,PUS7L,PUS7L EXON Missense_V701I,Missense_V388I,Missense_V701I,Missense_V701I exm995772 12 44124241 [T/C] NM_001098614,NM_001271826,NM_031292,NM_001098615 PUS7L,PUS7L,PUS7L,PUS7L EXON Missense_D682N,Missense_D369N,Missense_D682N,Missense_D682N exm1771482 12 44124408 [A/C] NM_001098614,NM_001271826,NM_031292,NM_001098615 PUS7L,PUS7L,PUS7L,PUS7L EXON Missense_C626F,Missense_C313F,Missense_C626F,Missense_C626F exm995780 12 44125510 [G/C] NM_001098614,NM_001271826,NM_031292,NM_001098615 PUS7L,PUS7L,PUS7L,PUS7L EXON Missense_Q593E,Missense_Q280E,Missense_Q593E,Missense_Q593E exm995790 12 44130330 [A/G] NM_001098614,NM_001271826,NM_031292,NM_001098615 PUS7L,PUS7L,PUS7L,PUS7L EXON Missense_R527C,Missense_R214C,Missense_R527C,Missense_R527C exm995791 12 44130331 [T/C] NM_001098614,NM_001271826,NM_031292,NM_001098615 PUS7L,PUS7L,PUS7L,PUS7L EXON Missense_M526I,Missense_M213I,Missense_M526I,Missense_M526I exm995798 12 44130443 [A/G] NM_001098614,NM_001271826,NM_031292,NM_001098615 PUS7L,PUS7L,PUS7L,PUS7L EXON Missense_S489L,Missense_S176L,Missense_S489L,Missense_S489L exm995800 12 44132145 [A/G] NM_001098614,NM_001271826,NM_031292,NM_001098615 PUS7L,PUS7L,PUS7L,PUS7L EXON Missense_V471A,Missense_V158A,Missense_V471A,Missense_V471A exm995808 12 44139862 [A/G] NM_001098614,NM_001271826,NM_031292,NM_001098615 PUS7L,PUS7L,PUS7L,PUS7L EXON Missense_I417T,Missense_I104T,Missense_I417T,Missense_I417T exm995814 12 44142256 [T/C] NM_001098614,NM_001271826,NM_031292,NM_001098615 PUS7L,PUS7L,PUS7L,PUS7L EXON Missense_E356G,Missense_E43G,Missense_E356G,Missense_E356G exm995816 12 44142281 [T/C] NM_001098614,NM_001271826,NM_031292,NM_001098615 PUS7L,PUS7L,PUS7L,PUS7L EXON Missense_M348V,Missense_M35V,Missense_M348V,Missense_M348V exm995817 12 44142334 [A/G] NM_001098614,NM_001271826,NM_031292,NM_001098615 PUS7L,PUS7L,PUS7L,PUS7L EXON Missense_S330L,Missense_S17L,Missense_S330L,Missense_S330L exm995820 12 44142400 [A/C] NM_001098614,NM_001271826,NM_031292,NM_001098615 PUS7L,PUS7L,PUS7L,PUS7L EXON Missense_R308L,Silent,Missense_R308L,Missense_R308L exm995821 12 44142401 [A/G] NM_001098614,NM_001271826,NM_031292,NM_001098615 PUS7L,PUS7L,PUS7L,PUS7L EXON Nonsense_R308X,Silent,Nonsense_R308X,Nonsense_R308X exm995825 12 44148180 [T/C] NM_001098614,NM_001271826,NM_031292,NM_001098615 PUS7L,PUS7L,PUS7L,PUS7L EXON Missense_R290K,Silent,Missense_R290K,Missense_R290K exm1771499 12 44148208 [A/G] NM_001098614,NM_001271826,NM_031292,NM_001098615 PUS7L,PUS7L,PUS7L,PUS7L EXON Missense_R281W,Silent,Missense_R281W,Missense_R281W exm995826 12 44148216 [A/C] NM_001098614,NM_001271826,NM_031292,NM_001098615 PUS7L,PUS7L,PUS7L,PUS7L EXON Missense_V278G,Silent,Missense_V278G,Missense_V278G exm995828 12 44148259 [T/C] NM_001098614,NM_001271826,NM_031292,NM_001098615 PUS7L,PUS7L,PUS7L,PUS7L EXON Missense_K264E,Silent,Missense_K264E,Missense_K264E exm995830 12 44148279 [A/G] NM_001098614,NM_001271826,NM_031292,NM_001098615 PUS7L,PUS7L,PUS7L,PUS7L EXON Missense_V257A,Silent,Missense_V257A,Missense_V257A exm995835 12 44148460 [A/C] NM_001098614,NM_001271826,NM_031292,NM_001098615 PUS7L,PUS7L,PUS7L,PUS7L EXON Missense_V197L,Silent,Missense_V197L,Missense_V197L exm995836 12 44148486 [A/G] NM_001098614,NM_001271826,NM_031292,NM_001098615 PUS7L,PUS7L,PUS7L,PUS7L EXON Missense_T188I,Silent,Missense_T188I,Missense_T188I exm1771502 12 44148510 [T/C] NM_001098614,NM_001271826,NM_031292,NM_001098615 PUS7L,PUS7L,PUS7L,PUS7L EXON Missense_R180K,Silent,Missense_R180K,Missense_R180K exm995838 12 44148523 [A/G] NM_001098614,NM_001271826,NM_031292,NM_001098615 PUS7L,PUS7L,PUS7L,PUS7L EXON Missense_H176Y,Silent,Missense_H176Y,Missense_H176Y exm995839 12 44148531 [T/G] NM_001098614,NM_001271826,NM_031292,NM_001098615 PUS7L,PUS7L,PUS7L,PUS7L EXON Missense_A173D,Silent,Missense_A173D,Missense_A173D exm995841 12 44148625 [A/C] NM_001098614,NM_001271826,NM_031292,NM_001098615 PUS7L,PUS7L,PUS7L,PUS7L EXON Missense_C142G,Silent,Missense_C142G,Missense_C142G exm995847 12 44148773 [A/C] NM_001098614,NM_001271826,NM_031292,NM_001098615 PUS7L,PUS7L,PUS7L,PUS7L EXON Missense_I92M,Silent,Missense_I92M,Missense_I92M exm995848 12 44148801 [A/C] NM_001098614,NM_001271826,NM_031292,NM_001098615 PUS7L,PUS7L,PUS7L,PUS7L EXON Missense_G83V,Silent,Missense_G83V,Missense_G83V exm995855 12 44148901 [T/C] NM_001098614,NM_001271826,NM_031292,NM_001098615 PUS7L,PUS7L,PUS7L,PUS7L EXON Missense_I50V,Silent,Missense_I50V,Missense_I50V exm995858 12 44148963 [A/C] NM_001098614,NM_001271826,NM_031292,NM_001098615 PUS7L,PUS7L,PUS7L,PUS7L EXON Missense_S29I,Silent,Missense_S29I,Missense_S29I exm995859 12 44148988 [T/C] NM_001098614,NM_001271826,NM_031292,NM_001098615 PUS7L,PUS7L,PUS7L,PUS7L EXON Missense_V21I,Silent,Missense_V21I,Missense_V21I exm995860 12 44148989 [A/G] NM_001098614,NM_001271826,NM_031292,NM_001098615 PUS7L,PUS7L,PUS7L,PUS7L EXON Synonymous_H20H,Silent,Synonymous_H20H,Synonymous_H20H exm2220502 12 44161927 [A/G] NM_001114182,NM_001145257,NM_001145258,NM_001145256,NM_016123 IRAK4,IRAK4,IRAK4,IRAK4,IRAK4 EXON Missense_I5V,Silent,Silent,Silent,Missense_I5V exm995881 12 44166753 [A/G] NM_001114182,NM_001145257,NM_001145258,NM_001145256,NM_016123 IRAK4,IRAK4,IRAK4,IRAK4,IRAK4 EXON Missense_T177A,Missense_T53A,Missense_T53A,Missense_T53A,Missense_T177A exm995882 12 44166771 [T/C] NM_001114182,NM_001145257,NM_001145258,NM_001145256,NM_016123 IRAK4,IRAK4,IRAK4,IRAK4,IRAK4 EXON Nonsense_R183X,Nonsense_R59X,Nonsense_R59X,Nonsense_R59X,Nonsense_R183X exm995893 12 44172041 [T/C] NM_001114182,NM_001145257,NM_001145258,NM_001145256,NM_016123 IRAK4,IRAK4,IRAK4,IRAK4,IRAK4 EXON Nonsense_Q293X,Nonsense_Q169X,Nonsense_Q169X,Nonsense_Q169X,Nonsense_Q293X exm995905 12 44177508 [A/G] NM_001114182,NM_001145257,NM_001145258,NM_001145256,NM_016123 IRAK4,IRAK4,IRAK4,IRAK4,IRAK4 EXON Missense_H390R,Missense_H266R,Missense_H266R,Missense_H266R,Missense_H390R exm995906 12 44177510 [T/C] NM_001114182,NM_001145257,NM_001145258,NM_001145256,NM_016123 IRAK4,IRAK4,IRAK4,IRAK4,IRAK4 EXON Missense_R391C,Missense_R267C,Missense_R267C,Missense_R267C,Missense_R391C exm995907 12 44177511 [A/G] NM_001114182,NM_001145257,NM_001145258,NM_001145256,NM_016123 IRAK4,IRAK4,IRAK4,IRAK4,IRAK4 EXON Missense_R391H,Missense_R267H,Missense_R267H,Missense_R267H,Missense_R391H exm995911 12 44180295 [A/G] NM_001114182,NM_001145257,NM_001145258,NM_001145256,NM_016123 IRAK4,IRAK4,IRAK4,IRAK4,IRAK4 EXON Missense_A428T,Missense_A304T,Missense_A304T,Missense_A304T,Missense_A428T exm995916 12 44180501 [A/G] NM_001114182,NM_001145257,NM_001145258,NM_001145256,NM_016123 IRAK4,IRAK4,IRAK4,IRAK4,IRAK4 EXON Missense_E456K,Missense_E332K,Missense_E332K,Missense_E332K,Missense_E456K exm995928 12 44189545 [T/C] NR_073472,NM_002822,NR_073473,NM_001242397 TWF1,TWF1,TWF1,TWF1 EXON Silent,Missense_N299S,Silent,Missense_N306S exm2250955 12 44191625 [A/G] NR_073472,NM_002822,NR_073473,NM_001242397 TWF1,TWF1,TWF1,TWF1 EXON Silent,Synonymous_D165D,Silent,Synonymous_D172D exm2250956 12 44196407 [T/C] NR_073472,NM_002822,NR_073473,NM_001242397 TWF1,TWF1,TWF1,TWF1 Silent,Silent,Silent,Silent exm995963 12 44238723 [A/G] NM_032256 TMEM117 EXON Missense_R90H exm2267432 12 44413166 [A/G] NM_032256 TMEM117 Silent exm995969 12 44537360 [A/G] NM_032256 TMEM117 EXON Missense_R148Q exm995982 12 44770496 [T/C] NM_032256 TMEM117 EXON Missense_I296T exm995989 12 44781917 [T/C] NM_032256 TMEM117 EXON Missense_P336L exm995999 12 44782177 [T/C] NM_032256 TMEM117 EXON Missense_R423C exm996000 12 44782208 [T/G] NM_032256 TMEM117 EXON Missense_R433L exm996003 12 44782265 [A/G] NM_032256 TMEM117 EXON Missense_N452S exm996004 12 44782279 [T/G] NM_032256 TMEM117 EXON Missense_V457L exm996016 12 44902761 [A/G] NM_001145107,NM_001145108,NM_006159,NM_001145110,NM_001145109 NELL2,NELL2,NELL2,NELL2,NELL2 EXON Missense_H853Y,Missense_H803Y,Missense_H803Y,Missense_H826Y,Missense_H802Y exm996020 12 44913858 [A/G] NM_001145107,NM_001145108,NM_006159,NM_001145110,NM_001145109 NELL2,NELL2,NELL2,NELL2,NELL2 EXON Missense_M827T,Missense_M777T,Missense_M777T,Missense_M800T,Missense_M776T exm996027 12 44915791 [T/G] NM_001145107,NM_001145108,NM_006159,NM_001145110,NM_001145109 NELL2,NELL2,NELL2,NELL2,NELL2 EXON Missense_R773S,Missense_R723S,Missense_R723S,Missense_R746S,Missense_R722S exm996028 12 44915799 [A/T] NM_001145107,NM_001145108,NM_006159,NM_001145110,NM_001145109 NELL2,NELL2,NELL2,NELL2,NELL2 EXON Missense_Q770L,Missense_Q720L,Missense_Q720L,Missense_Q743L,Missense_Q719L exm996040 12 44917178 [C/G] NM_001145107,NM_001145108,NM_006159,NM_001145110,NM_001145109 NELL2,NELL2,NELL2,NELL2,NELL2 EXON Missense_H682D,Missense_H632D,Missense_H632D,Missense_H655D,Missense_H631D exm996049 12 44926384 [A/G] NM_001145107,NM_001145108,NM_006159,NM_001145110,NM_001145109 NELL2,NELL2,NELL2,NELL2,NELL2 EXON Missense_P645L,Missense_P595L,Missense_P595L,Missense_P618L,Missense_P594L exm2271721 12 44932106 [T/C] NM_001145107,NM_001145108,NM_006159,NM_001145110,NM_001145109 NELL2,NELL2,NELL2,NELL2,NELL2 Silent,Silent,Silent,Silent,Silent exm996056 12 45000996 [A/G] NM_001145107,NM_001145108,NM_006159,NM_001145110,NM_001145109 NELL2,NELL2,NELL2,NELL2,NELL2 EXON Missense_V590A,Missense_V540A,Missense_V540A,Missense_V563A,Missense_V539A exm996060 12 45004663 [A/G] NM_001145107,NM_001145108,NM_006159,NM_001145110,NM_001145109 NELL2,NELL2,NELL2,NELL2,NELL2 EXON Missense_P562L,Missense_P512L,Missense_P512L,Missense_P535L,Missense_P511L exm996065 12 45059299 [T/C] NM_001145107,NM_001145108,NM_006159,NM_001145110,NM_001145109 NELL2,NELL2,NELL2,NELL2,NELL2 EXON Missense_G521E,Missense_G471E,Missense_G471E,Missense_G494E,Missense_G470E exm996066 12 45059310 [G/C] NM_001145107,NM_001145108,NM_006159,NM_001145110,NM_001145109 NELL2,NELL2,NELL2,NELL2,NELL2 EXON Missense_I517M,Missense_I467M,Missense_I467M,Missense_I490M,Missense_I466M exm996068 12 45059357 [A/G] NM_001145107,NM_001145108,NM_006159,NM_001145110,NM_001145109 NELL2,NELL2,NELL2,NELL2,NELL2 EXON Missense_R502C,Missense_R452C,Missense_R452C,Missense_R475C,Missense_R451C exm996069 12 45059368 [T/C] NM_001145107,NM_001145108,NM_006159,NM_001145110,NM_001145109 NELL2,NELL2,NELL2,NELL2,NELL2 EXON Missense_R498H,Missense_R448H,Missense_R448H,Missense_R471H,Missense_R447H exm996076 12 45105111 [T/C] NM_001145107,NM_001145108,NM_006159,NM_001145110,NM_001145109 NELL2,NELL2,NELL2,NELL2,NELL2 EXON Missense_I435V,Missense_I385V,Missense_I385V,Missense_I408V,Missense_I384V exm996079 12 45105152 [T/C] NM_001145107,NM_001145108,NM_006159,NM_001145110,NM_001145109 NELL2,NELL2,NELL2,NELL2,NELL2 EXON Missense_S421N,Missense_S371N,Missense_S371N,Missense_S394N,Missense_S370N exm996102 12 45170892 [T/C] NM_001145107,NM_001145108,NM_006159,NM_001145110,NM_001145109 NELL2,NELL2,NELL2,NELL2,NELL2 EXON Missense_N282S,Missense_N232S,Missense_N232S,Missense_N255S,Missense_N231S exm996103 12 45171026 [A/G] NM_001145107,NM_001145108,NM_006159,NM_001145110,NM_001145109 NELL2,NELL2,NELL2,NELL2,NELL2 EXON Synonymous_R276R,Synonymous_R226R,Synonymous_R226R,Synonymous_R249R,Synonymous_R225R exm996104 12 45171077 [T/G] NM_001145107,NM_001145108,NM_006159,NM_001145110,NM_001145109 NELL2,NELL2,NELL2,NELL2,NELL2 EXON Missense_Q259H,Missense_Q209H,Missense_Q209H,Missense_Q232H,Missense_Q208H exm996110 12 45173695 [T/C] NM_001145107,NM_001145108,NM_006159,NM_001145110,NM_001145109 NELL2,NELL2,NELL2,NELL2,NELL2 EXON Missense_K199R,Missense_K149R,Missense_K149R,Missense_K172R,Missense_K148R exm1771959 12 45173768 [T/C] NM_001145107,NM_001145108,NM_006159,NM_001145110,NM_001145109 NELL2,NELL2,NELL2,NELL2,NELL2 EXON Missense_V175I,Missense_V125I,Missense_V125I,Missense_V148I,Missense_V124I exm996122 12 45269046 [A/G] NM_001145107,NM_001145108,NM_006159,NM_001145110,NM_001145109 NELL2,NELL2,NELL2,NELL2,NELL2 EXON Missense_P99L,Missense_P49L,Missense_P49L,Missense_P72L,Missense_P48L exm996132 12 45269640 [T/C] NM_001145107,NM_001145108,NM_006159,NM_001145110 NELL2,NELL2,NELL2,NELL2 EXON Missense_V55I,Missense_V5I,Missense_V5I,Missense_V28I exm996147 12 45410134 [A/C] NM_001004329 DBX2 EXON Missense_G319C exm996150 12 45410254 [T/C] NM_001004329 DBX2 EXON Missense_I279V exm1772000 12 45417591 [C/G] NM_001004329 DBX2 EXON Missense_D196H exm996164 12 45417641 [C/G] NM_001004329 DBX2 EXON Missense_S179C exm996167 12 45417666 [T/C] NM_001004329 DBX2 EXON Missense_M171V exm996190 12 45444383 [A/G] NM_001004329 DBX2 EXON Missense_P110S exm996192 12 45444419 [A/G] NM_001004329 DBX2 EXON Missense_P98S exm996193 12 45444431 [G/C] NM_001004329 DBX2 EXON Missense_P94A exm996202 12 45444650 [G/C] NM_001004329 DBX2 EXON Missense_A21P exm2267433 12 45477074 [A/G] exm996259 12 45610152 [C/G] NM_001204803,NM_001025356,NM_001142679 ANO6,ANO6,ANO6 EXON Missense_E16D,Missense_E16D,Missense_E16D exm996267 12 45695820 [T/A] NM_001204803,NM_001025356,NM_001142679,NM_001142678 ANO6,ANO6,ANO6,ANO6 EXON Missense_I53F,Missense_I32F,Missense_I32F,Missense_I14F exm2271723 12 45724730 [T/C] NM_001204803,NM_001025356,NM_001142679,NM_001142678 ANO6,ANO6,ANO6,ANO6 Silent,Silent,Silent,Silent exm996271 12 45725088 [A/G] NM_001204803,NM_001025356,NM_001142679,NM_001142678 ANO6,ANO6,ANO6,ANO6 EXON Missense_N75S,Missense_N54S,Missense_N54S,Missense_N36S exm996282 12 45741847 [A/G] NM_001204803,NM_001025356,NM_001142679,NM_001142678 ANO6,ANO6,ANO6,ANO6 EXON Missense_A149T,Missense_A128T,Missense_A128T,Missense_A110T exm996285 12 45741881 [T/C] NM_001204803,NM_001025356,NM_001142679,NM_001142678 ANO6,ANO6,ANO6,ANO6 EXON Missense_I160T,Missense_I139T,Missense_I139T,Missense_I121T exm996288 12 45742042 [T/G] NM_001204803,NM_001025356,NM_001142679,NM_001142678 ANO6,ANO6,ANO6,ANO6 EXON Missense_D214Y,Missense_D193Y,Missense_D193Y,Missense_D175Y exm996306 12 45761554 [A/G] NM_001204803,NM_001025356,NM_001142679,NM_001142678 ANO6,ANO6,ANO6,ANO6 EXON Missense_N382S,Missense_N361S,Missense_N361S,Missense_N343S exm996319 12 45782045 [G/C] NM_001204803,NM_001025356,NM_001142679,NM_001142678 ANO6,ANO6,ANO6,ANO6 EXON Missense_E444Q,Missense_E423Q,Missense_E423Q,Missense_E405Q exm996320 12 45782052 [A/G] NM_001204803,NM_001025356,NM_001142679,NM_001142678 ANO6,ANO6,ANO6,ANO6 EXON Missense_R446Q,Missense_R425Q,Missense_R425Q,Missense_R407Q exm996336 12 45796904 [A/G] NM_001204803,NM_001025356,NM_001142679,NM_001142678 ANO6,ANO6,ANO6,ANO6 EXON Missense_M575I,Missense_M554I,Missense_M554I,Missense_M536I exm996340 12 45797231 [A/G] NM_001204803,NM_001025356,NM_001142679,NM_001142678 ANO6,ANO6,ANO6,ANO6 EXON Missense_G619S,Missense_G598S,Missense_G598S,Missense_G580S exm996350 12 45810577 [T/G] NM_001204803,NM_001025356,NM_001142679,NM_001142678 ANO6,ANO6,ANO6,ANO6 EXON Missense_A724S,Missense_A703S,Missense_A703S,Missense_A685S exm996355 12 45810653 [T/C] NM_001204803,NM_001025356,NM_001142679,NM_001142678 ANO6,ANO6,ANO6,ANO6 EXON Missense_M749T,Missense_M728T,Missense_M728T,Missense_M710T exm996362 12 45814917 [A/G] NM_001204803,NM_001025356,NM_001142679,NM_001142678 ANO6,ANO6,ANO6,ANO6 EXON Missense_V782I,Missense_V761I,Missense_V761I,Missense_V743I exm996364 12 45814974 [A/C] NM_001204803,NM_001025356,NM_001142679,NM_001142678 ANO6,ANO6,ANO6,ANO6 EXON Missense_L801I,Missense_L780I,Missense_L780I,Missense_L762I exm996370 12 45816744 [T/C] NM_001204803,NM_001025356,NM_001142679,NM_001142678 ANO6,ANO6,ANO6,ANO6 EXON Missense_R830C,Missense_R809C,Missense_R809C,Missense_R791C exm996372 12 45816772 [T/C] NM_001204803,NM_001025356,NM_001142679,NM_001142678 ANO6,ANO6,ANO6,ANO6 EXON Missense_P839L,Missense_P818L,Missense_P818L,Missense_P800L exm996377 12 45822933 [A/G] NM_001204803,NM_001025356,NM_001142679,NM_001142678 ANO6,ANO6,ANO6,ANO6 EXON Missense_D879N,Missense_D858N,Silent,Missense_D840N exm996380 12 45823017 [A/G] NM_001204803,NM_001025356,NM_001142679,NM_001142678 ANO6,ANO6,ANO6,ANO6 EXON Missense_M907V,Missense_M886V,Silent,Missense_M868V exm996381 12 45823035 [G/C] NM_001204803,NM_001025356,NM_001142679,NM_001142678 ANO6,ANO6,ANO6,ANO6 EXON Missense_V913L,Missense_V892L,Silent,Missense_V874L exm-rs7960483 12 45925755 [T/G] exm2271724 12 46079245 [T/G] exm996397 12 46205208 [A/G] NM_152641 ARID2 EXON Missense_E98K exm996401 12 46205286 [A/G] NM_152641 ARID2 EXON Missense_I124V exm996412 12 46230525 [A/G] NM_152641 ARID2 EXON Synonymous_E258E exm996435 12 46240639 [G/C] NM_152641 ARID2 EXON Missense_A500G exm996443 12 46243406 [A/G] NM_152641 ARID2 EXON Missense_S587G exm996444 12 46243455 [T/C] NM_152641 ARID2 EXON Missense_A603V exm2220511 12 46243476 [A/T] NM_152641 ARID2 EXON Missense_M610K exm996464 12 46244152 [T/C] NM_152641 ARID2 EXON Missense_T749I exm996467 12 46244334 [C/G] NM_152641 ARID2 EXON Missense_A810P exm996468 12 46244346 [A/G] NM_152641 ARID2 EXON Missense_T814A exm996475 12 46244464 [A/G] NM_152641 ARID2 EXON Missense_Y853C exm996480 12 46244670 [A/G] NM_152641 ARID2 EXON Missense_T922A exm1772233 12 46244712 [T/G] NM_152641 ARID2 EXON Missense_G936C exm2250974 12 46245077 [A/G] NM_152641 ARID2 EXON Synonymous_S1057S exm996486 12 46245077 [A/G] NM_152641 ARID2 EXON Synonymous_S1057S exm996523 12 46246083 [A/G] NM_152641 ARID2 EXON Missense_M1393V exm996535 12 46246206 [T/G] NM_152641 ARID2 EXON Missense_A1434S exm996537 12 46246248 [T/C] NM_152641 ARID2 EXON Missense_L1448F exm996539 12 46246255 [A/G] NM_152641 ARID2 EXON Missense_G1450E exm996546 12 46246302 [A/G] NM_152641 ARID2 EXON Missense_S1466G exm996552 12 46246416 [T/C] NM_152641 ARID2 EXON Missense_R1504W exm996557 12 46246491 [A/G] NM_152641 ARID2 EXON Missense_G1529R exm996559 12 46246611 [A/G] NM_152641 ARID2 EXON Missense_A1569T exm996570 12 46285585 [G/C] NM_152641 ARID2 EXON Missense_V1649L exm2250975 12 46285635 [G/C] NM_152641 ARID2 EXON Synonymous_G1665G exm996579 12 46287413 [A/G] NM_152641 ARID2 EXON Missense_D1758N exm996595 12 46316805 [T/C] NM_004719 SCAF11 EXON Missense_K1347E exm996599 12 46316858 [A/G] NM_004719 SCAF11 EXON Missense_T1329M exm996600 12 46316862 [T/C] NM_004719 SCAF11 EXON Missense_N1328D exm2250976 12 46318517 [T/C] NM_004719 SCAF11 EXON Synonymous_Q1300Q exm996609 12 46318612 [A/G] NM_004719 SCAF11 EXON Missense_P1269S exm996611 12 46318636 [G/C] NM_004719 SCAF11 EXON Missense_V1261L exm996613 12 46318697 [G/C] NM_004719 SCAF11 EXON Missense_M1240I exm996630 12 46320311 [T/G] NM_004719 SCAF11 EXON Missense_S1058Y exm996634 12 46320453 [T/C] NM_004719 SCAF11 EXON Missense_N1011D exm996635 12 46320456 [A/G] NM_004719 SCAF11 EXON Missense_P1010S exm996643 12 46320659 [A/G] NM_004719 SCAF11 EXON Missense_P942L exm996649 12 46320876 [A/C] NM_004719 SCAF11 EXON Missense_D870Y exm996655 12 46320944 [T/C] NM_004719 SCAF11 EXON Missense_R847H exm996657 12 46320956 [T/C] NM_004719 SCAF11 EXON Missense_R843Q exm996658 12 46320957 [A/G] NM_004719 SCAF11 EXON Missense_R843W exm2274583 12 46320980 [A/G] NM_004719 SCAF11 EXON Missense_P835L exm996664 12 46321124 [C/G] NM_004719 SCAF11 EXON Missense_P787R exm996678 12 46321441 [T/G] NM_004719 SCAF11 EXON Missense_L681F exm996679 12 46321481 [A/G] NM_004719 SCAF11 EXON Missense_L668P exm996680 12 46321482 [C/G] NM_004719 SCAF11 EXON Missense_L668V exm996681 12 46321514 [T/A] NM_004719 SCAF11 EXON Missense_F657Y exm996683 12 46321547 [A/G] NM_004719 SCAF11 EXON Missense_I646T exm996689 12 46321732 [T/C] NM_004719 SCAF11 EXON Missense_I584M exm996696 12 46321842 [T/C] NM_004719 SCAF11 EXON Missense_N548D exm996700 12 46321925 [T/C] NM_004719 SCAF11 EXON Missense_G520D exm996714 12 46322313 [A/G] NM_004719 SCAF11 EXON Missense_R391W exm996716 12 46322436 [T/C] NM_004719 SCAF11 EXON Missense_G350S exm996724 12 46322538 [T/C] NM_004719 SCAF11 EXON Missense_M316V exm996727 12 46322568 [T/C] NM_004719 SCAF11 EXON Missense_N306D exm996745 12 46339033 [A/G] NM_004719 SCAF11 EXON Synonymous_H154H exm996752 12 46345447 [T/C] NM_004719 SCAF11 EXON Missense_E95K exm996753 12 46345461 [T/G] NM_004719 SCAF11 EXON Missense_K90T exm2271839 12 46353125 [T/G] NM_004719 SCAF11 Silent exm-rs1373549 12 46485838 [A/G] exm996778 12 46591791 [T/C] NM_001077484,NM_030674 SLC38A1,SLC38A1 EXON Missense_R392H,Missense_R392H exm996814 12 46623347 [A/G] NM_001077484,NM_030674 SLC38A1,SLC38A1 EXON Synonymous_Y66Y,Synonymous_Y66Y exm2271725 12 46658059 [T/C] NM_001077484,NM_030674 SLC38A1,SLC38A1 Silent,Silent exm996821 12 46754916 [T/C] NM_018976 SLC38A2 EXON Missense_N500S exm996822 12 46754919 [T/C] NM_018976 SLC38A2 EXON Missense_H499R exm996828 12 46756090 [T/C] NM_018976 SLC38A2 EXON Missense_M467V exm996834 12 46756366 [T/C] NM_018976 SLC38A2 EXON Missense_R412H exm996836 12 46757510 [A/G] NM_018976 SLC38A2 EXON Synonymous_Y351Y exm996849 12 46758462 [A/G] NM_018976 SLC38A2 EXON Missense_L224F exm2274584 12 46758909 [A/C] NM_018976 SLC38A2 EXON Missense_L209F exm996866 12 46761058 [T/C] NM_018976 SLC38A2 EXON Missense_N127S exm996873 12 46764973 [A/G] NM_018976 SLC38A2 EXON Missense_A35V exm996875 12 46764986 [A/G] NM_018976 SLC38A2 EXON Missense_P31S exm996878 12 46765007 [T/C] NM_018976 SLC38A2 EXON Missense_S24G exm996879 12 46765009 [T/C] NM_018976 SLC38A2 EXON Missense_N23S exm996881 12 46765037 [A/C] NM_018976 SLC38A2 EXON Missense_D14Y exm2267434 12 46921611 [A/G] exm996905 12 47168900 [G/C] NM_018018,NM_001143824 SLC38A4,SLC38A4 EXON Missense_P411A,Missense_P411A exm996908 12 47170743 [A/G] NM_018018,NM_001143824 SLC38A4,SLC38A4 EXON Missense_T373M,Missense_T373M exm2274585 12 47172402 [A/C] NM_018018,NM_001143824 SLC38A4,SLC38A4 EXON Missense_R292L,Missense_R292L exm996921 12 47172417 [A/G] NM_018018,NM_001143824 SLC38A4,SLC38A4 EXON Missense_M287T,Missense_M287T exm996932 12 47173617 [T/C] NM_018018,NM_001143824 SLC38A4,SLC38A4 EXON Missense_I202V,Missense_I202V exm996945 12 47181709 [T/C] NM_018018,NM_001143824 SLC38A4,SLC38A4 EXON Missense_I106V,Missense_I106V exm2250983 12 47182317 [A/G] NM_018018,NM_001143824 SLC38A4,SLC38A4 EXON Synonymous_D68D,Synonymous_D68D exm996952 12 47182317 [A/G] NM_018018,NM_001143824 SLC38A4,SLC38A4 EXON Synonymous_D68D,Synonymous_D68D exm996956 12 47182360 [T/G] NM_018018,NM_001143824 SLC38A4,SLC38A4 EXON Missense_T54K,Missense_T54K exm996959 12 47186770 [T/C] NM_018018,NM_001143824 SLC38A4,SLC38A4 EXON Missense_G29R,Missense_G29R exm2267346 12 47416587 [A/G] exm1772827 12 47471555 [C/G] NM_181847,NM_001143668 AMIGO2,AMIGO2 EXON Missense_V411L,Missense_V411L exm996976 12 47471609 [A/G] NM_181847,NM_001143668 AMIGO2,AMIGO2 EXON Missense_H393Y,Missense_H393Y exm996980 12 47471911 [T/C] NM_181847,NM_001143668 AMIGO2,AMIGO2 EXON Missense_R292H,Missense_R292H exm996983 12 47471957 [T/C] NM_181847,NM_001143668 AMIGO2,AMIGO2 EXON Missense_D277N,Missense_D277N exm1772833 12 47471968 [A/C] NM_181847,NM_001143668 AMIGO2,AMIGO2 EXON Missense_L273R,Missense_L273R exm996985 12 47471980 [A/G] NM_181847,NM_001143668 AMIGO2,AMIGO2 EXON Missense_S269L,Missense_S269L exm1772834 12 47472156 [G/C] NM_181847,NM_001143668 AMIGO2,AMIGO2 EXON Missense_H210Q,Missense_H210Q exm997001 12 47472525 [A/C] NM_181847,NM_001143668 AMIGO2,AMIGO2 EXON Missense_W87C,Missense_W87C exm997007 12 47472701 [T/C] NM_181847,NM_001143668 AMIGO2,AMIGO2 EXON Missense_I29V,Missense_I29V exm997008 12 47472752 [A/G] NM_181847,NM_001143668 AMIGO2,AMIGO2 EXON Missense_L12F,Missense_L12F exm2271840 12 47613284 [T/C] NM_138371 PCED1B Silent exm997011 12 47628863 [T/C] NM_138371 PCED1B EXON Missense_A6V exm997012 12 47628875 [A/G] NM_138371 PCED1B EXON Missense_R10Q exm997016 12 47628929 [G/C] NM_138371 PCED1B EXON Missense_A28G exm997040 12 47629515 [A/G] NM_138371 PCED1B EXON Synonymous_E223E exm997049 12 47629739 [T/C] NM_138371 PCED1B EXON Missense_T298I exm997054 12 47629864 [A/G] NM_138371 PCED1B EXON Missense_A340T exm997064 12 47630063 [A/G] NM_138371 PCED1B EXON Missense_R406H exm997065 12 47630090 [A/G] NM_138371 PCED1B EXON Missense_R415Q exm-rs11610206 12 47639526 [T/C] exm-rs214678 12 47676950 [T/C] exm997077 12 48060797 [T/C] NM_024604,NM_001146076,NM_001146075 RPAP3,RPAP3,RPAP3 EXON Missense_M626I,Missense_M467I,Missense_M592I exm997094 12 48062824 [A/T] NM_024604,NM_001146076,NM_001146075 RPAP3,RPAP3,RPAP3 EXON Missense_I530L,Missense_I371L,Missense_I496L exm997102 12 48063926 [A/G] NM_024604,NM_001146076,NM_001146075 RPAP3,RPAP3,RPAP3 EXON Missense_L497S,Missense_L338S,Missense_L463S exm997105 12 48064044 [A/G] NM_024604,NM_001146076,NM_001146075 RPAP3,RPAP3,RPAP3 EXON Missense_P458S,Missense_P299S,Missense_P424S exm997107 12 48073283 [T/C] NM_024604,NM_001146076,NM_001146075 RPAP3,RPAP3,RPAP3 EXON Missense_G427E,Missense_G268E,Silent exm997118 12 48080627 [T/C] NM_024604,NM_001146076,NM_001146075 RPAP3,RPAP3,RPAP3 EXON Missense_A310T,Missense_A151T,Missense_A310T exm997124 12 48081660 [T/C] NM_024604,NM_001146076,NM_001146075 RPAP3,RPAP3,RPAP3 EXON Missense_R288Q,Missense_R129Q,Missense_R288Q exm997142 12 48091454 [C/G] NM_024604,NM_001146076,NM_001146075 RPAP3,RPAP3,RPAP3 EXON Missense_L115V,Silent,Missense_L115V exm997145 12 48091499 [A/G] NM_024604,NM_001146076,NM_001146075 RPAP3,RPAP3,RPAP3 EXON Missense_R100C,Silent,Missense_R100C exm997155 12 48104665 [A/G] NM_006025,NM_001172440,NM_001172439 ENDOU,ENDOU,ENDOU EXON Missense_R344W,Missense_R322W,Missense_R385W exm997157 12 48105415 [C/G] NM_006025,NM_001172440,NM_001172439 ENDOU,ENDOU,ENDOU Silent,Silent,Silent exm997160 12 48105483 [T/C] NM_006025,NM_001172440,NM_001172439 ENDOU,ENDOU,ENDOU EXON Missense_I309V,Missense_I287V,Missense_I350V exm997163 12 48105543 [T/C] NM_006025,NM_001172440,NM_001172439 ENDOU,ENDOU,ENDOU EXON Missense_D289N,Missense_D267N,Missense_D330N exm997165 12 48105557 [T/C] NM_006025,NM_001172440,NM_001172439 ENDOU,ENDOU,ENDOU EXON Nonsense_W284X,Nonsense_W262X,Nonsense_W325X exm997173 12 48106373 [C/G] NM_006025,NM_001172440,NM_001172439 ENDOU,ENDOU,ENDOU EXON Missense_H259D,Missense_H237D,Missense_H300D exm997189 12 48110232 [A/G] NM_006025,NM_001172440,NM_001172439 ENDOU,ENDOU,ENDOU EXON Missense_A160V,Missense_A138V,Missense_A201V exm997190 12 48110259 [T/G] NM_006025,NM_001172440,NM_001172439 ENDOU,ENDOU,ENDOU EXON Missense_K151T,Missense_K129T,Missense_K192T exm997192 12 48110270 [A/C] NM_006025,NM_001172440,NM_001172439 ENDOU,ENDOU,ENDOU EXON Nonsense_Y147X,Nonsense_Y125X,Nonsense_Y188X exm1773164 12 48110673 [A/G] NM_006025,NM_001172440,NM_001172439 ENDOU,ENDOU,ENDOU EXON Missense_P143L,Missense_P121L,Missense_P184L exm997196 12 48110686 [A/G] NM_006025,NM_001172440,NM_001172439 ENDOU,ENDOU,ENDOU EXON Missense_R139C,Missense_R117C,Missense_R180C exm997199 12 48110775 [T/C] NM_006025,NM_001172440,NM_001172439 ENDOU,ENDOU,ENDOU EXON Missense_R109K,Missense_R87K,Missense_R150K exm997200 12 48111305 [T/G] NM_006025,NM_001172440,NM_001172439 ENDOU,ENDOU,ENDOU EXON Missense_D85E,Missense_D63E,Missense_D126E exm997207 12 48111405 [T/C] NM_006025,NM_001172440,NM_001172439 ENDOU,ENDOU,ENDOU EXON Missense_R52H,Missense_R30H,Missense_R93H exm997208 12 48111406 [A/G] NM_006025,NM_001172440,NM_001172439 ENDOU,ENDOU,ENDOU EXON Missense_R52C,Missense_R30C,Missense_R93C exm997209 12 48111415 [A/G] NM_006025,NM_001172440,NM_001172439 ENDOU,ENDOU,ENDOU EXON Missense_C49R,Missense_C27R,Missense_C90R exm997210 12 48111429 [A/G] NM_006025,NM_001172440,NM_001172439 ENDOU,ENDOU,ENDOU EXON Missense_S44L,Missense_S22L,Missense_S85L exm1773171 12 48111969 [A/T] NM_006025,NM_001172440,NM_001172439 ENDOU,ENDOU,ENDOU EXON Nonsense_K22X,Silent,Nonsense_K63X exm997215 12 48114611 [A/C] NM_006025,NM_001172440,NM_001172439 ENDOU,ENDOU,ENDOU EXON Silent,Silent,Missense_D35Y exm-rs2239187 12 48117707 [T/C] NM_006025,NM_001172440,NM_001172439 ENDOU,ENDOU,ENDOU Silent,Silent,Silent exm997216 12 48119166 [T/C] NM_006025,NM_001172440,NM_001172439 ENDOU,ENDOU,ENDOU EXON Missense_V11M,Missense_V11M,Missense_V11M exm997221 12 48131387 [T/C] NM_006105,NM_001098531,NM_001098532 RAPGEF3,RAPGEF3,RAPGEF3 EXON Missense_R870Q,Missense_R912Q,Missense_R870Q exm1773197 12 48131399 [A/G] NM_006105,NM_001098531,NM_001098532 RAPGEF3,RAPGEF3,RAPGEF3 EXON Missense_I866T,Missense_I908T,Missense_I866T exm997226 12 48131467 [A/G] NM_006105,NM_001098531,NM_001098532 RAPGEF3,RAPGEF3,RAPGEF3 EXON Synonymous_C843C,Synonymous_C885C,Synonymous_C843C exm997232 12 48131987 [T/C] NM_006105,NM_001098531,NM_001098532 RAPGEF3,RAPGEF3,RAPGEF3 EXON Missense_S815N,Missense_S857N,Missense_S815N exm997233 12 48132009 [A/G] NM_006105,NM_001098531,NM_001098532 RAPGEF3,RAPGEF3,RAPGEF3 EXON Missense_R808W,Missense_R850W,Missense_R808W exm997243 12 48133944 [A/G] NM_006105,NM_001098531,NM_001098532 RAPGEF3,RAPGEF3,RAPGEF3 EXON Missense_S743P,Missense_S785P,Missense_S743P exm1773211 12 48133956 [A/G] NM_006105,NM_001098531,NM_001098532 RAPGEF3,RAPGEF3,RAPGEF3 EXON Missense_R739W,Missense_R781W,Missense_R739W exm997259 12 48134552 [A/C] NM_006105,NM_001098531,NM_001098532 RAPGEF3,RAPGEF3,RAPGEF3 EXON Missense_A660S,Missense_A702S,Missense_A660S exm997260 12 48134564 [T/C] NM_006105,NM_001098531,NM_001098532 RAPGEF3,RAPGEF3,RAPGEF3 EXON Missense_D656N,Missense_D698N,Missense_D656N exm997261 12 48134567 [A/G] NM_006105,NM_001098531,NM_001098532 RAPGEF3,RAPGEF3,RAPGEF3 EXON Missense_R655W,Missense_R697W,Missense_R655W exm2271726 12 48134695 [T/C] NM_006105,NM_001098531,NM_001098532 RAPGEF3,RAPGEF3,RAPGEF3 Silent,Silent,Silent exm997272 12 48134768 [A/T] NM_006105,NM_001098531,NM_001098532 RAPGEF3,RAPGEF3,RAPGEF3 EXON Missense_L618Q,Missense_L660Q,Missense_L618Q exm997285 12 48137442 [A/G] NM_006105,NM_001098531,NM_001098532 RAPGEF3,RAPGEF3,RAPGEF3 EXON Missense_R524W,Missense_R566W,Missense_R524W exm997300 12 48141333 [T/C] NM_006105,NM_001098531,NM_001098532 RAPGEF3,RAPGEF3,RAPGEF3 EXON Missense_C475Y,Missense_C517Y,Missense_C475Y exm997312 12 48141598 [T/C] NM_006105,NM_001098531,NM_001098532 RAPGEF3,RAPGEF3,RAPGEF3 EXON Missense_Y415C,Missense_Y457C,Missense_Y415C exm997315 12 48141873 [T/C] NM_006105,NM_001098531,NM_001098532 RAPGEF3,RAPGEF3,RAPGEF3 EXON Missense_A394T,Missense_A436T,Missense_A394T exm997329 12 48142636 [T/C] NM_006105,NM_001098531,NM_001098532 RAPGEF3,RAPGEF3,RAPGEF3 EXON Missense_G332S,Missense_G374S,Missense_G332S exm997335 12 48143208 [A/G] NM_006105,NM_001098531,NM_001098532 RAPGEF3,RAPGEF3,RAPGEF3 EXON Missense_R294C,Missense_R336C,Missense_R294C exm997340 12 48143315 [A/G] NM_006105,NM_001098531,NM_001098532 RAPGEF3,RAPGEF3,RAPGEF3 EXON Missense_L258P,Missense_L300P,Missense_L258P exm997350 12 48143751 [A/C] NM_006105,NM_001098531,NM_001098532 RAPGEF3,RAPGEF3,RAPGEF3 EXON Missense_V218G,Missense_V260G,Missense_V218G exm997353 12 48144198 [A/G] NM_006105,NM_001098531,NM_001098532 RAPGEF3,RAPGEF3,RAPGEF3 EXON Missense_R186C,Missense_R228C,Missense_R186C exm997365 12 48144925 [T/C] NM_006105,NM_001098531,NM_001098532 RAPGEF3,RAPGEF3,RAPGEF3 EXON Missense_R151G,Missense_R193G,Missense_R151G exm997381 12 48145286 [T/C] NM_006105,NM_001098531,NM_001098532 RAPGEF3,RAPGEF3,RAPGEF3 EXON Missense_R91Q,Missense_R133Q,Missense_R91Q exm997389 12 48145600 [A/G] NM_006105,NM_001098531,NM_001098532 RAPGEF3,RAPGEF3,RAPGEF3 EXON Missense_R54W,Missense_R96W,Missense_R54W exm997392 12 48145734 [C/G] NM_006105,NM_001098531,NM_001098532 RAPGEF3,RAPGEF3,RAPGEF3 EXON Missense_E38Q,Missense_E80Q,Missense_E38Q exm997402 12 48151789 [A/G] NM_006105,NM_001098531,NM_001098532 RAPGEF3,RAPGEF3,RAPGEF3 EXON Silent,Missense_R27W,Silent exm997465 12 48177628 [T/A] NM_015401,NM_001098416 HDAC7,HDAC7 EXON Missense_L991H,Missense_L954H exm997505 12 48181902 [A/G] NM_015401,NM_001098416 HDAC7,HDAC7 EXON Missense_P761S,Missense_P724S exm997527 12 48185449 [A/G] NM_015401,NM_001098416 HDAC7,HDAC7 EXON Missense_S618L,Missense_S581L exm997535 12 48185743 [T/C] NM_015401,NM_001098416 HDAC7,HDAC7 EXON Missense_G575S,Missense_G538S exm997537 12 48185772 [A/G] NM_015401,NM_001098416 HDAC7,HDAC7 EXON Missense_S565L,Missense_S528L exm997545 12 48187329 [A/G] NM_015401,NM_001098416 HDAC7,HDAC7 EXON Missense_R501W,Missense_R464W exm997547 12 48187337 [T/C] NM_015401,NM_001098416 HDAC7,HDAC7 EXON Missense_R498Q,Missense_R461Q exm997552 12 48188589 [A/C] NM_015401,NM_001098416 HDAC7,HDAC7 EXON Missense_G471V,Missense_G434V exm997562 12 48188689 [A/G] NM_015401,NM_001098416 HDAC7,HDAC7 EXON Missense_R438W,Missense_R401W exm997569 12 48189381 [T/G] NM_015401,NM_001098416 HDAC7,HDAC7 EXON Missense_P359Q,Missense_P322Q exm997570 12 48189400 [G/C] NM_015401,NM_001098416 HDAC7,HDAC7 EXON Missense_P353A,Missense_P316A exm997574 12 48189511 [A/G] NM_015401,NM_001098416 HDAC7,HDAC7 EXON Missense_R316W,Missense_R279W exm997581 12 48189798 [C/G] NM_015401,NM_001098416 HDAC7,HDAC7 EXON Missense_A266G,Silent exm997604 12 48191247 [T/C] NM_015401,NM_001098416 HDAC7,HDAC7 EXON Missense_R166H,Missense_R166H exm997605 12 48191262 [A/G] NM_015401,NM_001098416 HDAC7,HDAC7 EXON Missense_T161M,Missense_T161M exm997611 12 48192390 [C/G] NM_015401,NM_001098416 HDAC7,HDAC7 EXON Missense_E102Q,Missense_E102Q exm997620 12 48192588 [A/G] NM_015401,NM_001098416 HDAC7,HDAC7 EXON Missense_R80C,Missense_R80C exm997621 12 48192630 [A/G] NM_015401,NM_001098416 HDAC7,HDAC7 EXON Missense_R66C,Missense_R66C exm997634 12 48238704 [T/C] NM_000376,NM_001017535,NM_001017536 VDR,VDR,VDR EXON Missense_R370H,Missense_R370H,Missense_R420H exm997637 12 48238728 [A/G] NM_000376,NM_001017535,NM_001017536 VDR,VDR,VDR EXON Missense_T362I,Missense_T362I,Missense_T412I exm997639 12 48238740 [T/C] NM_000376,NM_001017535,NM_001017536 VDR,VDR,VDR EXON Missense_R358H,Missense_R358H,Missense_R408H exm997641 12 48238765 [T/C] NM_000376,NM_001017535,NM_001017536 VDR,VDR,VDR EXON Missense_A350T,Missense_A350T,Missense_A400T exm997643 12 48240126 [A/G] NM_000376,NM_001017535,NM_001017536 VDR,VDR,VDR EXON Missense_V339A,Missense_V339A,Missense_V389A exm997644 12 48240127 [T/C] NM_000376,NM_001017535,NM_001017536 VDR,VDR,VDR EXON Missense_V339I,Missense_V339I,Missense_V389I exm2250996 12 48240209 [T/C] NM_000376,NM_001017535,NM_001017536 VDR,VDR,VDR EXON Synonymous_E311E,Synonymous_E311E,Synonymous_E361E exm997647 12 48240233 [A/G] NM_000376,NM_001017535,NM_001017536 VDR,VDR,VDR EXON Synonymous_A303A,Synonymous_A303A,Synonymous_A353A exm997649 12 48240458 [T/C] NM_000376,NM_001017535,NM_001017536 VDR,VDR,VDR EXON Missense_V297I,Missense_V297I,Missense_V347I exm997659 12 48249480 [C/G] NM_000376,NM_001017535,NM_001017536 VDR,VDR,VDR EXON Missense_L230V,Missense_L230V,Missense_L280V exm997669 12 48251387 [T/C] NM_000376,NM_001017535,NM_001017536 VDR,VDR,VDR EXON Missense_R121Q,Missense_R121Q,Missense_R171Q exm2220542 12 48258875 [A/C] NM_000376,NM_001017535,NM_001017536 VDR,VDR,VDR EXON Missense_A78S,Missense_A78S,Missense_A128S exm997680 12 48258931 [A/G] NM_000376,NM_001017535,NM_001017536 VDR,VDR,VDR EXON Missense_T59I,Missense_T59I,Missense_T109I exm997683 12 48258946 [T/C] NM_000376,NM_001017535,NM_001017536 VDR,VDR,VDR EXON Missense_R54Q,Missense_R54Q,Missense_R104Q exm997685 12 48258959 [C/G] NM_000376,NM_001017535,NM_001017536 VDR,VDR,VDR EXON Missense_R50G,Missense_R50G,Missense_R100G exm2250998 12 48272840 [A/G] NM_000376,NM_001017535,NM_001017536 VDR,VDR,VDR EXON Synonymous_N19N,Synonymous_N19N,Synonymous_N69N exm997699 12 48272889 [T/G] NM_000376,NM_001017535,NM_001017536 VDR,VDR,VDR EXON Missense_A3E,Missense_A3E,Missense_A53E exm997700 12 48272895 [A/G] NM_000376,NM_001017535,NM_001017536 VDR,VDR,VDR EXON Missense_M1T,Missense_M1T,Missense_M51T exm2260078 12 48308174 [A/G] exm997702 12 48358023 [A/G] NM_001143842,NM_024056,NM_001143841,NM_001143843 TMEM106C,TMEM106C,TMEM106C,TMEM106C EXON Missense_G2R,Missense_G2R,Missense_G2R,Missense_G2R exm997708 12 48358203 [A/G] NM_001143842,NM_024056,NM_001143841,NM_001143843 TMEM106C,TMEM106C,TMEM106C,TMEM106C EXON Missense_T62A,Missense_T62A,Missense_T62A,Missense_T62A exm997717 12 48359676 [T/G] NM_001143842,NM_024056,NM_001143841,NM_001143843 TMEM106C,TMEM106C,TMEM106C,TMEM106C EXON Missense_V103F,Missense_V103F,Missense_V103F,Missense_V103F exm997718 12 48359688 [T/C] NM_001143842,NM_024056,NM_001143841,NM_001143843 TMEM106C,TMEM106C,TMEM106C,TMEM106C EXON Missense_F107L,Missense_F107L,Missense_F107L,Missense_F107L exm1773420 12 48359763 [G/C] NM_001143842,NM_024056,NM_001143841,NM_001143843 TMEM106C,TMEM106C,TMEM106C,TMEM106C EXON Missense_V132L,Missense_V132L,Missense_V132L,Missense_V132L exm997726 12 48359931 [G/C] NM_001143842,NM_024056,NM_001143841,NM_001143843 TMEM106C,TMEM106C,TMEM106C,TMEM106C EXON Missense_S157R,Missense_S157R,Missense_S157R,Missense_S157R exm997728 12 48359980 [A/G] NM_001143842,NM_024056,NM_001143841,NM_001143843 TMEM106C,TMEM106C,TMEM106C,TMEM106C EXON Missense_V174I,Missense_V174I,Silent,Silent exm997740 12 48361002 [T/C] NM_001143842,NM_024056,NM_001143841,NM_001143843 TMEM106C,TMEM106C,TMEM106C,TMEM106C EXON Missense_T205M,Missense_T205M,Missense_T186M,Missense_T186M exm997745 12 48361938 [A/G] NM_001143842,NM_024056,NM_001143841,NM_001143843 TMEM106C,TMEM106C,TMEM106C,TMEM106C EXON Missense_I227V,Missense_I227V,Missense_I208V,Missense_I208V exm997758 12 48367327 [T/C] NM_001844,NM_033150 COL2A1,COL2A1 EXON Missense_G1443S,Missense_G1374S exm997761 12 48367873 [A/G] NM_001844,NM_033150 COL2A1,COL2A1 EXON Missense_T1439M,Missense_T1370M exm997762 12 48367900 [A/G] NM_001844,NM_033150 COL2A1,COL2A1 EXON Missense_T1430M,Missense_T1361M exm997769 12 48367976 [T/C] NM_001844,NM_033150 COL2A1,COL2A1 EXON Missense_G1405S,Missense_G1336S exm997772 12 48368041 [A/G] NM_001844,NM_033150 COL2A1,COL2A1 EXON Missense_T1383M,Missense_T1314M exm2251002 12 48368073 [A/G] NM_001844,NM_033150 COL2A1,COL2A1 EXON Synonymous_N1372N,Synonymous_N1303N exm997782 12 48368468 [T/C] NM_001844,NM_033150 COL2A1,COL2A1 EXON Missense_G1355D,Missense_G1286D exm997787 12 48368541 [T/C] NM_001844,NM_033150 COL2A1,COL2A1 EXON Missense_V1331I,Missense_V1262I exm997802 12 48369250 [T/C] NM_001844,NM_033150 COL2A1,COL2A1 EXON Missense_G1246S,Missense_G1177S exm997845 12 48372444 [A/G] NM_001844,NM_033150 COL2A1,COL2A1 EXON Missense_P944L,Missense_P875L exm997849 12 48373316 [T/C] NM_001844,NM_033150 COL2A1,COL2A1 EXON Missense_R904H,Missense_R835H exm997862 12 48375127 [A/G] NM_001844,NM_033150 COL2A1,COL2A1 EXON Missense_P821L,Missense_P752L exm2267347 12 48375568 [A/G] NM_001844,NM_033150 COL2A1,COL2A1 EXON Synonymous_N800N,Synonymous_N731N exm997903 12 48377898 [A/G] NM_001844,NM_033150 COL2A1,COL2A1 EXON Missense_T638I,Missense_T569I exm997918 12 48379542 [A/C] NM_001844,NM_033150 COL2A1,COL2A1 EXON Missense_R550L,Missense_R481L exm997932 12 48380213 [A/G] NM_001844,NM_033150 COL2A1,COL2A1 EXON Missense_P478L,Missense_P409L exm997937 12 48380862 [A/G] NM_001844,NM_033150 COL2A1,COL2A1 EXON Missense_T455M,Missense_T386M exm997938 12 48380926 [A/G] NM_001844,NM_033150 COL2A1,COL2A1 EXON Missense_P434S,Missense_P365S exm997942 12 48381394 [A/G] NM_001844,NM_033150 COL2A1,COL2A1 EXON Synonymous_S407S,Synonymous_S338S exm997944 12 48381440 [T/C] NM_001844,NM_033150 COL2A1,COL2A1 EXON Missense_R392H,Missense_R323H exm997950 12 48383544 [T/C] NM_001844,NM_033150 COL2A1,COL2A1 EXON Synonymous_P356P,Synonymous_P287P exm997951 12 48383545 [A/G] NM_001844,NM_033150 COL2A1,COL2A1 EXON Missense_P356L,Missense_P287L exm997958 12 48387246 [A/G] NM_001844,NM_033150 COL2A1,COL2A1 EXON Missense_P322S,Missense_P253S exm997967 12 48388220 [A/G] NM_001844,NM_033150 COL2A1,COL2A1 EXON Missense_P268L,Missense_P199L exm1773569 12 48390390 [T/C] NM_001844,NM_033150 COL2A1,COL2A1 EXON Missense_A184T,Missense_A115T exm997998 12 48391657 [A/T] NM_001844,NM_033150 COL2A1,COL2A1 EXON Missense_E142D,Missense_E73D exm2251004 12 48393799 [A/G] NM_001844,NM_033150 COL2A1,COL2A1 EXON Synonymous_D65D,Silent exm998018 12 48393799 [A/G] NM_001844,NM_033150 COL2A1,COL2A1 EXON Synonymous_D65D,Silent exm998027 12 48398080 [T/A] NM_001844,NM_033150 COL2A1,COL2A1 EXON Missense_T9S,Missense_T9S exm998040 12 48442815 [A/G] NM_001267595,NM_001267594,NR_051991,NR_051992 SENP1,SENP1,SENP1,SENP1 EXON Missense_T503M,Missense_T503M,Silent,Silent exm998043 12 48458912 [T/C] NM_001267595,NM_001267594,NR_051991,NR_051992 SENP1,SENP1,SENP1,SENP1 EXON Missense_Q404R,Missense_Q404R,Silent,Silent exm998055 12 48468209 [T/C] NM_001267595,NM_001267594,NR_051991,NR_051992 SENP1,SENP1,SENP1,SENP1 EXON Missense_A280T,Missense_A280T,Silent,Silent exm998068 12 48482722 [A/C] NM_001267595,NM_001267594,NR_051991,NR_051992 SENP1,SENP1,SENP1,SENP1 EXON Missense_F81C,Missense_F81C,Silent,Silent exm998069 12 48482726 [T/C] NM_001267595,NM_001267594,NR_051991,NR_051992 SENP1,SENP1,SENP1,SENP1 EXON Missense_S80G,Missense_S80G,Silent,Silent exm998075 12 48491829 [A/G] NM_001267595,NM_001267594,NR_051991,NR_051992 SENP1,SENP1,SENP1,SENP1 EXON Missense_L28P,Missense_L28P,Silent,Silent exm998082 12 48501161 [T/A] NM_001166686 PFKM EXON Missense_H2L exm998088 12 48516598 [T/C] NM_001166686,NM_000289,NM_001166687,NM_001166688 PFKM,PFKM,PFKM,PFKM EXON Missense_I85T,Missense_I14T,Missense_I14T,Missense_I14T exm998089 12 48516609 [A/G] NM_001166686,NM_000289,NM_001166687,NM_001166688 PFKM,PFKM,PFKM,PFKM EXON Missense_I89V,Missense_I18V,Missense_I18V,Missense_I18V exm998103 12 48526705 [T/C] NM_001166686,NM_000289,NM_001166687,NM_001166688 PFKM,PFKM,PFKM,PFKM EXON Nonsense_R169X,Nonsense_R98X,Nonsense_R98X,Nonsense_R98X exm998105 12 48526712 [A/G] NM_001166686,NM_000289,NM_001166687,NM_001166688 PFKM,PFKM,PFKM,PFKM EXON Missense_R171Q,Missense_R100Q,Missense_R100Q,Missense_R100Q exm1773691 12 48526760 [T/C] NM_001166686,NM_000289,NM_001166687,NM_001166688 PFKM,PFKM,PFKM,PFKM EXON Missense_I187T,Missense_I116T,Missense_I116T,Missense_I116T exm998116 12 48527170 [A/G] NM_001166686,NM_000289,NM_001166687,NM_001166688 PFKM,PFKM,PFKM,PFKM EXON Missense_N238S,Missense_N167S,Missense_N167S,Missense_N167S exm998133 12 48528798 [A/G] NM_001166686,NM_000289,NM_001166687,NM_001166688 PFKM,PFKM,PFKM,PFKM EXON Missense_I345V,Missense_I274V,Missense_I274V,Missense_I274V exm998138 12 48531571 [T/C] NM_001166686,NM_000289,NM_001166687,NM_001166688 PFKM,PFKM,PFKM,PFKM EXON Missense_V406A,Missense_V335A,Missense_V335A,Missense_V335A exm998140 12 48531629 [T/G] NM_001166686,NM_000289,NM_001166687,NM_001166688 PFKM,PFKM,PFKM,PFKM EXON Synonymous_V425V,Synonymous_V354V,Synonymous_V354V,Synonymous_V354V exm998158 12 48534652 [A/C] NM_001166686,NM_000289,NM_001166687,NM_001166688 PFKM,PFKM,PFKM,PFKM EXON Missense_Q518K,Missense_Q447K,Missense_Q447K,Missense_Q447K exm998186 12 48538908 [A/G] NM_001166686,NM_000289,NM_001166687,NM_001166688 PFKM,PFKM,PFKM,PFKM EXON Missense_R767H,Missense_R696H,Missense_R696H,Missense_R696H exm998194 12 48539349 [A/G] NM_001166686,NM_000289,NM_001166687,NM_001166688 PFKM,PFKM,PFKM,PFKM EXON Missense_H805R,Missense_H734R,Missense_H734R,Missense_H734R exm998198 12 48539460 [T/C] NM_001166686,NM_000289,NM_001166687,NM_001166688 PFKM,PFKM,PFKM,PFKM EXON Missense_T842I,Missense_T771I,Missense_T771I,Missense_T771I exm998208 12 48543237 [T/C] NM_024095 ASB8 EXON Missense_R260H exm-IND12-46829523 12 48543257 [I/D] NM_024095 ASB8 EXON exm998220 12 48543424 [T/C] NM_024095 ASB8 EXON Missense_G198R exm998222 12 48543447 [T/C] NM_024095 ASB8 EXON Missense_R190H exm998237 12 48545070 [T/C] NM_024095 ASB8 EXON Missense_T50A exm998251 12 48577976 [T/C] NM_001013635 C12orf68 EXON Missense_T24I exm998254 12 48578033 [T/C] NM_001013635 C12orf68 EXON Missense_L43P exm998267 12 48578325 [A/C] NM_001013635 C12orf68 EXON Missense_E140D exm1773807 12 48578357 [T/C] NM_001013635 C12orf68 EXON Missense_A151V exm2251009 12 48578478 [A/G] NM_001013635 C12orf68 EXON Synonymous_E191E exm998284 12 48596241 [A/G] NM_001004134 OR10AD1 EXON Missense_Y279H exm998293 12 48596484 [T/A] NM_001004134 OR10AD1 EXON Missense_W198R exm998295 12 48596546 [T/C] NM_001004134 OR10AD1 EXON Missense_S177N exm998296 12 48596568 [A/G] NM_001004134 OR10AD1 EXON Missense_R170C exm998298 12 48596579 [T/C] NM_001004134 OR10AD1 EXON Missense_R166Q exm998300 12 48596590 [A/C] NM_001004134 OR10AD1 EXON Nonsense_Y162X exm998306 12 48596708 [T/C] NM_001004134 OR10AD1 EXON Missense_R123H exm998309 12 48596742 [T/C] NM_001004134 OR10AD1 EXON Missense_E112K exm998311 12 48596765 [A/G] NM_001004134 OR10AD1 EXON Missense_F104S exm2251010 12 48596890 [A/G] NM_001004134 OR10AD1 EXON Synonymous_F62F exm998318 12 48596895 [A/G] NM_001004134 OR10AD1 EXON Missense_Y61H exm998319 12 48596905 [G/C] NM_001004134 OR10AD1 EXON Missense_N57K exm998321 12 48596967 [A/G] NM_001004134 OR10AD1 EXON Missense_L37F exm998326 12 48597053 [A/G] NM_001004134 OR10AD1 EXON Missense_V8A exm1773891 12 48723108 [T/C] NM_181788 H1FNT EXON Missense_R12W exm998342 12 48723142 [T/C] NM_181788 H1FNT EXON Missense_A23V exm998350 12 48723324 [G/C] NM_181788 H1FNT EXON Missense_R84G exm998364 12 48723561 [A/G] NM_181788 H1FNT EXON Missense_K163E exm998365 12 48723595 [A/G] NM_181788 H1FNT EXON Missense_R174Q exm998371 12 48723784 [T/C] NM_181788 H1FNT EXON Missense_S237F exm998373 12 48723810 [T/C] NM_181788 H1FNT EXON Missense_P246S exm998380 12 48736791 [A/G] NM_001172682,NM_001172681,NM_152320 ZNF641,ZNF641,ZNF641 EXON Missense_R405W,Missense_R414W,Missense_R428W exm998391 12 48736985 [T/G] NM_001172682,NM_001172681,NM_152320 ZNF641,ZNF641,ZNF641 EXON Missense_Q340P,Missense_Q349P,Missense_Q363P exm998397 12 48737279 [C/G] NM_001172682,NM_001172681,NM_152320 ZNF641,ZNF641,ZNF641 EXON Missense_T242R,Missense_T251R,Missense_T265R exm998398 12 48737395 [C/G] NM_001172682,NM_001172681,NM_152320 ZNF641,ZNF641,ZNF641 EXON Missense_W203C,Missense_W212C,Missense_W226C exm998399 12 48737405 [T/C] NM_001172682,NM_001172681,NM_152320 ZNF641,ZNF641,ZNF641 EXON Missense_D200G,Missense_D209G,Missense_D223G exm1773918 12 48737448 [A/G] NM_001172682,NM_001172681,NM_152320 ZNF641,ZNF641,ZNF641 EXON Missense_S186P,Missense_S195P,Missense_S209P exm998423 12 48741878 [A/G] NM_001172682,NM_001172681,NM_152320 ZNF641,ZNF641,ZNF641 EXON Silent,Silent,Missense_A13V exm-rs4519134 12 48808927 [T/C] exm998428 12 48866481 [T/C] NM_012404 ANP32D EXON Missense_R12W exm998439 12 48866585 [A/C] NM_012404 ANP32D EXON Missense_L46F exm998442 12 48866669 [C/G] NM_012404 ANP32D EXON Missense_N74K exm998445 12 48866722 [A/G] NM_012404 ANP32D EXON Missense_H92R exm998449 12 48866827 [A/T] NM_012404 ANP32D EXON Missense_N127I exm998459 12 48879982 [A/G] NM_152319 C12orf54 EXON Missense_M29I exm998463 12 48880504 [G/C] NM_152319 C12orf54 EXON Missense_D44H exm998468 12 48882727 [T/A] NM_152319 C12orf54 EXON Missense_D52E exm998473 12 48884610 [T/C] NM_152319 C12orf54 EXON Missense_R62W exm998476 12 48886732 [T/A] NM_152319 C12orf54 EXON Missense_M66L exm998480 12 48888594 [T/C] NM_152319 C12orf54 EXON Missense_P86S exm998481 12 48888604 [T/G] NM_152319 C12orf54 EXON Missense_L89W exm1774056 12 48888663 [A/C] NM_152319 C12orf54 EXON Missense_R109S exm998488 12 48888763 [A/G] NM_152319 C12orf54 Silent exm998489 12 48919428 [A/G] NM_001005203 OR8S1 EXON Missense_N5S exm998497 12 48919519 [A/C] NM_001005203 OR8S1 EXON Nonsense_Y35X exm998498 12 48919556 [A/G] NM_001005203 OR8S1 EXON Missense_M48V exm998501 12 48919659 [T/C] NM_001005203 OR8S1 EXON Missense_L82P exm998505 12 48919768 [A/G] NM_001005203 OR8S1 EXON Missense_M118I exm998507 12 48919782 [A/G] NM_001005203 OR8S1 EXON Missense_H123R exm998510 12 48919796 [T/C] NM_001005203 OR8S1 EXON Missense_R128C exm998515 12 48919939 [A/C] NM_001005203 OR8S1 EXON Missense_H175Q exm998516 12 48919947 [A/G] NM_001005203 OR8S1 EXON Missense_S178N exm998517 12 48920006 [A/G] NM_001005203 OR8S1 EXON Missense_A198T exm998525 12 48920073 [A/G] NM_001005203 OR8S1 EXON Missense_R220H exm998526 12 48920087 [T/A] NM_001005203 OR8S1 EXON Missense_I225F exm998533 12 48920198 [A/C] NM_001005203 OR8S1 EXON Missense_P262T exm998536 12 48920261 [G/C] NM_001005203 OR8S1 EXON Missense_L283V exm998538 12 48920303 [A/G] NM_001005203 OR8S1 Silent exm2220553 12 48921696 [A/G] NM_001005203 OR8S1 EXON Missense_G297E exm998546 12 48921882 [A/C] NM_001005203 OR8S1 EXON Missense_P359H exm998555 12 48962957 [A/G] NM_002289 LALBA EXON Missense_T67M exm998556 12 48962960 [T/C] NM_002289 LALBA EXON Missense_S66N exm998557 12 48962979 [T/C] NM_002289 LALBA EXON Missense_I60V exm998558 12 48962985 [T/G] NM_002289 LALBA EXON Missense_Q58K exm998559 12 48963021 [T/C] NM_002289 LALBA EXON Missense_I46V exm998566 12 49047912 [T/C] NM_017822 KANSL2 EXON Missense_R465Q exm998567 12 49047936 [A/T] NM_017822 KANSL2 EXON Missense_D457V exm998575 12 49048738 [T/G] NM_017822 KANSL2 EXON Missense_P445T exm998587 12 49054396 [A/C] NM_017822 KANSL2 EXON Missense_C327F exm998597 12 49061511 [T/C] NM_017822 KANSL2 EXON Missense_N313S exm998645 12 49087087 [A/G] NM_001240 CCNT1 EXON Missense_S637L exm998646 12 49087150 [T/C] NM_001240 CCNT1 EXON Missense_H616R exm2220555 12 49087271 [T/G] NM_001240 CCNT1 EXON Missense_P576T exm998650 12 49087282 [T/C] NM_001240 CCNT1 EXON Missense_R572H exm998651 12 49087325 [T/C] NM_001240 CCNT1 EXON Missense_T558A exm998661 12 49087531 [A/G] NM_001240 CCNT1 EXON Missense_A489V exm998671 12 49087816 [A/G] NM_001240 CCNT1 EXON Missense_A394V exm998675 12 49087912 [T/C] NM_001240 CCNT1 EXON Missense_H362R exm1774134 12 49088000 [A/G] NM_001240 CCNT1 EXON Missense_R333C exm998702 12 49108257 [A/G] NM_001240 CCNT1 EXON Missense_M71T exm2251015 12 49108283 [A/C] NM_001240 CCNT1 EXON Synonymous_A62A exm998716 12 49162436 [T/C] NM_015270,NM_020983 ADCY6,ADCY6 EXON Missense_V1149I,Missense_V1096I exm998717 12 49162439 [C/G] NM_015270,NM_020983 ADCY6,ADCY6 EXON Missense_V1148L,Missense_V1095L exm998731 12 49164648 [A/G] NM_015270,NM_020983 ADCY6,ADCY6 EXON Missense_R1053C,Missense_R1000C exm998734 12 49164731 [T/C] NM_015270,NM_020983 ADCY6,ADCY6 EXON Missense_R1025Q,Missense_R972Q exm998743 12 49165648 [A/G] NM_015270,NM_020983 ADCY6,ADCY6 EXON Missense_R966C,Missense_R913C exm998744 12 49165650 [T/C] NM_015270,NM_020983 ADCY6,ADCY6 EXON Missense_R965H,Missense_R912H exm998757 12 49166315 [T/C] NM_015270,NM_020983 ADCY6,ADCY6 EXON Missense_N878S,Missense_N825S exm998761 12 49167262 [T/C] NM_015270,NM_020983 ADCY6,ADCY6 EXON Missense_V871I,Missense_V818I exm998774 12 49167833 [T/C] NM_015270,NM_020983 ADCY6,ADCY6 EXON Missense_N778D,Silent exm998776 12 49168253 [A/G] NM_015270,NM_020983 ADCY6,ADCY6 EXON Missense_R739W,Missense_R739W exm998780 12 49168506 [T/C] NM_015270,NM_020983 ADCY6,ADCY6 EXON Missense_V712M,Missense_V712M exm998788 12 49168789 [T/G] NM_015270,NM_020983 ADCY6,ADCY6 EXON Missense_L677M,Missense_L677M exm998789 12 49168798 [A/C] NM_015270,NM_020983 ADCY6,ADCY6 EXON Missense_A674S,Missense_A674S exm998790 12 49168819 [T/G] NM_015270,NM_020983 ADCY6,ADCY6 EXON Missense_P667T,Missense_P667T exm998792 12 49168831 [A/G] NM_015270,NM_020983 ADCY6,ADCY6 EXON Missense_R663W,Missense_R663W exm998800 12 49169162 [T/C] NM_015270,NM_020983 ADCY6,ADCY6 EXON Missense_R635H,Missense_R635H exm998810 12 49169790 [A/G] NM_015270,NM_020983 ADCY6,ADCY6 EXON Missense_R588C,Missense_R588C exm998813 12 49169807 [A/G] NM_015270,NM_020983 ADCY6,ADCY6 EXON Missense_P582L,Missense_P582L exm998816 12 49169841 [A/G] NM_015270,NM_020983 ADCY6,ADCY6 EXON Missense_R571W,Missense_R571W exm998821 12 49170029 [A/G] NM_015270,NM_020983 ADCY6,ADCY6 EXON Missense_I547T,Missense_I547T exm998847 12 49171288 [A/T] NM_015270,NM_020983 ADCY6,ADCY6 EXON Missense_I385F,Missense_I385F exm998875 12 49176805 [T/C] NM_015270,NM_020983 ADCY6,ADCY6 EXON Missense_R138H,Missense_R138H exm998896 12 49177117 [T/C] NM_015270,NM_020983 ADCY6,ADCY6 EXON Missense_R34Q,Missense_R34Q exm998907 12 49217152 [A/G] NM_001206917,NM_001206916,NM_000725,NM_001206915 CACNB3,CACNB3,CACNB3,CACNB3 EXON Missense_R11H,Missense_R23H,Missense_R24H,Missense_R24H exm998923 12 49218131 [T/C] NM_001206917,NM_001206916,NM_000725,NM_001206915 CACNB3,CACNB3,CACNB3,CACNB3 EXON Missense_R115W,Missense_R127W,Missense_R128W,Missense_R87W exm998953 12 49220192 [A/C] NM_001206917,NM_001206916,NM_000725,NM_001206915 CACNB3,CACNB3,CACNB3,CACNB3 EXON Missense_K249T,Missense_K261T,Missense_K262T,Missense_K221T exm998960 12 49220637 [A/G] NM_001206917,NM_001206916,NM_000725,NM_001206915 CACNB3,CACNB3,CACNB3,CACNB3 EXON Synonymous_P317P,Synonymous_P329P,Synonymous_P330P,Synonymous_P289P exm2276239 12 49221408 [A/C] NM_001206917,NM_001206916,NM_000725,NM_001206915 CACNB3,CACNB3,CACNB3,CACNB3 EXON Missense_P381H,Missense_P393H,Missense_P394H,Missense_P353H exm998971 12 49221416 [T/C] NM_001206917,NM_001206916,NM_000725,NM_001206915 CACNB3,CACNB3,CACNB3,CACNB3 EXON Missense_R384W,Missense_R396W,Missense_R397W,Missense_R356W exm2220560 12 49221495 [A/G] NM_001206917,NM_001206916,NM_000725,NM_001206915 CACNB3,CACNB3,CACNB3,CACNB3 EXON Missense_R410H,Missense_R422H,Missense_R423H,Missense_R382H exm999027 12 49230563 [T/C] NM_004818 DDX23 EXON Missense_K342R exm999049 12 49237765 [A/T] NM_004818 DDX23 EXON Missense_D93V exm999050 12 49237781 [T/G] NM_004818 DDX23 EXON Missense_K88Q exm2251017 12 49237806 [T/C] NM_004818 DDX23 EXON Synonymous_R79R exm999070 12 49251876 [T/C] NM_014470 RND1 EXON Missense_R201Q exm999071 12 49251880 [T/C] NM_014470 RND1 EXON Missense_V200I exm999073 12 49251937 [A/G] NM_014470 RND1 EXON Missense_R181W exm999074 12 49254799 [A/G] NM_014470 RND1 EXON Missense_A145V exm999078 12 49255792 [T/C] NM_014470 RND1 EXON Synonymous_K106K exm1774383 12 49255829 [A/C] NM_014470 RND1 EXON Missense_I94S exm999100 12 49298799 [T/C] NM_033124 CCDC65 EXON Missense_V68A exm999101 12 49298829 [T/A] NM_033124 CCDC65 EXON Missense_H78L exm999102 12 49298859 [T/C] NM_033124 CCDC65 EXON Missense_F88S exm999112 12 49308212 [T/C] NM_033124 CCDC65 EXON Missense_A109V exm999117 12 49308284 [A/G] NM_033124 CCDC65 EXON Missense_H133R exm999127 12 49310787 [A/C] NM_033124 CCDC65 EXON Missense_H169N exm999130 12 49310830 [T/C] NM_033124 CCDC65 EXON Missense_I183T exm999131 12 49310831 [A/G] NM_033124 CCDC65 EXON Missense_I183M exm999133 12 49310875 [A/G] NM_033124 CCDC65 EXON Missense_N198S exm2274586 12 49312108 [A/G] NM_033124 CCDC65 EXON Synonymous_E220E exm999137 12 49312128 [A/G] NM_033124 CCDC65 EXON Missense_Q227R exm1774401 12 49312131 [T/A] NM_033124 CCDC65 EXON Missense_D228V exm999142 12 49312221 [T/C] NM_033124 CCDC65 EXON Missense_I258T exm999144 12 49312251 [T/C] NM_033124 CCDC65 EXON Missense_L268P exm999147 12 49312540 [T/C] NM_033124 CCDC65 EXON Missense_R294C exm999154 12 49312676 [T/C] NM_033124 CCDC65 EXON Missense_I339T exm999155 12 49312681 [T/G] NM_033124 CCDC65 EXON Missense_D341Y exm999162 12 49314840 [A/G] NM_033124 CCDC65 EXON Missense_E385G exm999170 12 49314994 [A/G] NM_033124 CCDC65 EXON Missense_Y408C exm999173 12 49315045 [T/G] NM_033124 CCDC65 EXON Missense_L425R exm999181 12 49315186 [A/G] NM_033124 CCDC65 EXON Missense_R472H exm999182 12 49315200 [A/G] NM_033124 CCDC65 EXON Missense_G477S exm999198 12 49317589 [A/G] NM_001143781,NM_016594,NM_001143782 FKBP11,FKBP11,FKBP11 EXON Missense_R20W,Missense_R122W,Missense_R122W exm999207 12 49318391 [A/G] NM_001143781,NM_016594,NM_001143782 FKBP11,FKBP11,FKBP11 EXON Silent,Missense_T79I,Missense_T79I exm999251 12 49360081 [T/G] NM_003394 WNT10B EXON Missense_T323P exm999255 12 49360147 [A/G] NM_003394 WNT10B EXON Missense_P301S exm999258 12 49360167 [A/G] NM_003394 WNT10B EXON Missense_A294V exm999261 12 49360194 [A/G] NM_003394 WNT10B EXON Missense_I285T exm999278 12 49361898 [T/C] NM_003394 WNT10B EXON Missense_G181D exm999279 12 49361925 [T/C] NM_003394 WNT10B EXON Missense_S172N exm999293 12 49363980 [A/G] NM_003394 WNT10B EXON Missense_H77Y exm999296 12 49364099 [C/G] NM_003394 WNT10B EXON Missense_P37R exm999310 12 49373410 [A/T] NM_005430 WNT1 EXON Missense_S88R exm999319 12 49374389 [A/G] NM_005430 WNT1 EXON Missense_G181S exm999332 12 49375317 [T/C] NM_005430 WNT1 EXON Missense_T336M exm999341 12 49390677 [T/C] NM_015086 DDN EXON Missense_E661G exm999349 12 49390912 [T/C] NM_015086 DDN EXON Missense_R583G exm999370 12 49391586 [C/G] NM_015086 DDN EXON Missense_P358R exm999372 12 49391638 [T/C] NM_015086 DDN EXON Missense_A341T exm999381 12 49392018 [T/C] NM_015086 DDN EXON Missense_G214E exm999395 12 49392866 [A/G] NM_015086 DDN EXON Missense_R69C exm999397 12 49392880 [T/C] NM_015086 DDN EXON Missense_R64H exm999401 12 49396691 [G/C] NM_001206710,NM_001206709,NM_002733 PRKAG1,PRKAG1,PRKAG1 EXON Missense_K297N,Missense_K338N,Missense_K329N exm999411 12 49397602 [T/C] NM_001206710,NM_001206709,NM_002733 PRKAG1,PRKAG1,PRKAG1 EXON Missense_Y182C,Missense_Y223C,Missense_Y214C exm999415 12 49397677 [A/G] NM_001206710,NM_001206709,NM_002733 PRKAG1,PRKAG1,PRKAG1 EXON Missense_M157T,Missense_M198T,Missense_M189T exm999426 12 49399132 [C/G] NM_001206710,NM_001206709,NM_002733 PRKAG1,PRKAG1,PRKAG1 EXON Missense_T57S,Missense_T98S,Missense_T89S exm999455 12 49418717 [T/C] NM_003482 MLL2 EXON Missense_R5266H exm999459 12 49420055 [T/C] NM_003482 MLL2 EXON Missense_I5232V exm999472 12 49420730 [A/G] NM_003482 MLL2 EXON Missense_R5007W exm999486 12 49421648 [T/C] NM_003482 MLL2 EXON Missense_D4861N exm999505 12 49424138 [T/C] NM_003482 MLL2 EXON Missense_V4642I exm999511 12 49424428 [T/C] NM_003482 MLL2 EXON Missense_A4599T exm999523 12 49425055 [T/C] NM_003482 MLL2 EXON Missense_R4478Q exm1774545 12 49425196 [A/G] NM_003482 MLL2 EXON Missense_V4431A exm999529 12 49425386 [T/C] NM_003482 MLL2 EXON Missense_T4368A exm999530 12 49425443 [C/G] NM_003482 MLL2 EXON Missense_P4349A exm999532 12 49425487 [A/G] NM_003482 MLL2 EXON Missense_A4334V exm999553 12 49426003 [T/C] NM_003482 MLL2 EXON Missense_R4162Q exm999565 12 49426460 [A/G] NM_003482 MLL2 EXON Missense_S4010P exm999580 12 49426878 [T/C] NM_003482 MLL2 EXON Missense_M3870I exm999592 12 49427347 [T/C] NM_003482 MLL2 EXON Missense_R3714K exm999599 12 49427522 [A/G] NM_003482 MLL2 EXON Missense_R3656C exm999616 12 49428694 [T/C] NM_003482 MLL2 EXON Missense_D3419G exm999617 12 49428717 [A/G] NM_003482 MLL2 EXON Synonymous_D3411D exm999619 12 49430947 [T/C] NM_003482 MLL2 EXON Missense_M3398V exm999623 12 49431094 [T/C] NM_003482 MLL2 EXON Missense_M3349V exm999635 12 49431477 [T/G] NM_003482 MLL2 EXON Missense_T3221N exm999669 12 49432561 [A/G] NM_003482 MLL2 EXON Missense_R2860C exm999687 12 49433298 [A/G] NM_003482 MLL2 EXON Missense_P2717S exm999697 12 49433599 [T/G] NM_003482 MLL2 EXON Missense_M2652L exm999701 12 49433649 [T/C] NM_003482 MLL2 EXON Missense_R2635Q exm999710 12 49433848 [T/C] NM_003482 MLL2 EXON Missense_G2569S exm999711 12 49433883 [A/G] NM_003482 MLL2 EXON Missense_P2557L exm2251020 12 49433924 [T/C] NM_003482 MLL2 EXON Synonymous_G2543G exm1774591 12 49434252 [T/G] NM_003482 MLL2 EXON Missense_A2434D exm999742 12 49434417 [A/G] NM_003482 MLL2 EXON Missense_A2379V exm1774593 12 49434507 [A/G] NM_003482 MLL2 EXON Missense_P2349L exm999756 12 49434717 [T/C] NM_003482 MLL2 EXON Missense_G2279E exm999760 12 49434801 [A/G] NM_003482 MLL2 EXON Missense_S2251L exm999762 12 49434820 [C/G] NM_003482 MLL2 EXON Missense_L2245V exm999766 12 49434924 [A/G] NM_003482 MLL2 EXON Missense_P2210L exm999797 12 49435905 [T/C] NM_003482 MLL2 EXON Missense_I2026V exm999816 12 49437499 [A/G] NM_003482 MLL2 EXON Missense_R1796W exm999836 12 49438243 [G/C] NM_003482 MLL2 EXON Missense_P1676A exm999846 12 49439750 [A/G] NM_003482 MLL2 EXON Missense_A1565V exm999853 12 49440083 [T/C] NM_003482 MLL2 EXON Missense_V1515I exm999854 12 49440101 [T/C] NM_003482 MLL2 EXON Missense_I1509V exm999879 12 49443634 [A/G] NM_003482 MLL2 EXON Missense_T1246M exm999888 12 49443799 [A/G] NM_003482 MLL2 EXON Missense_P1191L exm1774657 12 49443979 [A/G] NM_003482 MLL2 EXON Missense_P1131L exm999897 12 49443982 [A/G] NM_003482 MLL2 EXON Missense_A1130V exm999906 12 49444190 [A/C] NM_003482 MLL2 EXON Missense_V1061L exm999907 12 49444191 [A/C] NM_003482 MLL2 EXON Missense_K1060N exm999923 12 49444689 [A/G] NM_003482 MLL2 EXON Missense_S926L exm999936 12 49444960 [T/G] NM_003482 MLL2 EXON Missense_Q836K exm999938 12 49445028 [A/G] NM_003482 MLL2 EXON Missense_P813L exm999942 12 49445092 [T/C] NM_003482 MLL2 EXON Missense_A792T exm2220575 12 49445260 [A/G] NM_003482 MLL2 EXON Missense_P736S exm999961 12 49445310 [A/G] NM_003482 MLL2 EXON Missense_P719L exm999969 12 49445392 [T/G] NM_003482 MLL2 EXON Missense_P692T exm999975 12 49445427 [A/G] NM_003482 MLL2 EXON Missense_T680M exm2277038 12 49445505 [T/G] NM_003482 MLL2 EXON Missense_S654Y exm999982 12 49445526 [T/G] NM_003482 MLL2 EXON Missense_P647Q exm1000006 12 49446040 [T/C] NM_003482 MLL2 EXON Missense_A476T exm1000025 12 49446800 [A/G] NM_003482 MLL2 EXON Missense_S337L exm1000032 12 49447304 [T/C] NM_003482 MLL2 EXON Missense_R265H exm1000038 12 49447881 [A/G] NM_003482 MLL2 EXON Missense_R185C exm1000050 12 49448463 [T/C] NM_003482 MLL2 EXON Missense_R83Q exm1000068 12 49460450 [A/G] NM_144593 RHEBL1 EXON Missense_I76T exm2251021 12 49479968 [A/C] exm1000100 12 49485013 [T/C] NM_021044 DHH EXON Missense_D155N exm1000105 12 49485171 [T/C] NM_021044 DHH EXON Missense_R102H exm1000113 12 49488069 [T/C] NM_021044 DHH EXON Missense_D76G exm1000125 12 49491493 [T/C] NM_018113 LMBR1L EXON Missense_G478S exm1000129 12 49491760 [T/C] NM_018113 LMBR1L EXON Missense_A457T exm1000130 12 49491793 [A/G] NM_018113 LMBR1L EXON Missense_L446F exm1000169 12 49498284 [T/G] NM_018113 LMBR1L EXON Missense_M128L exm1000176 12 49498618 [A/C] NM_018113 LMBR1L EXON Missense_L81R exm1000183 12 49499708 [T/C] NM_018113 LMBR1L EXON Missense_A64T exm2260080 12 49501398 [T/C] NM_018113 LMBR1L Silent exm1000333 12 49689009 [A/G] NM_006262 PRPH EXON Missense_R9Q exm2220579 12 49689335 [A/C] NM_006262 PRPH EXON Missense_L118M exm1000351 12 49689404 [T/G] NM_006262 PRPH EXON Missense_D141Y exm1000361 12 49690305 [A/G] NM_006262 PRPH EXON Missense_E233K exm1000368 12 49690798 [A/G] NM_006262 PRPH EXON Missense_A277T exm1000373 12 49691057 [A/G] NM_006262 PRPH Silent exm2220580 12 49691225 [T/G] NM_006262 PRPH EXON Missense_L361R exm1000393 12 49691776 [T/C] NM_006262 PRPH EXON Missense_R435W exm1000400 12 49692134 [T/C] NM_006262 PRPH EXON Missense_X471R exm1000412 12 49717755 [T/C] NM_005480,NM_001100620 TROAP,TROAP EXON Missense_P91L,Missense_P91L exm1000414 12 49717808 [T/C] NM_005480,NM_001100620 TROAP,TROAP EXON Missense_P109S,Missense_P109S exm1000436 12 49719566 [C/G] NM_005480 TROAP EXON Missense_P178A exm1000437 12 49719584 [T/C] NM_005480 TROAP EXON Missense_P184S exm1000454 12 49721015 [T/C] NM_005480 TROAP EXON Missense_R265C exm1000468 12 49722810 [A/G] NM_005480 TROAP EXON Missense_R331H exm1000469 12 49722816 [T/C] NM_005480 TROAP EXON Missense_P333L exm1000471 12 49722963 [A/G] NM_005480 TROAP EXON Missense_R347Q exm1000476 12 49723183 [G/C] NM_005480 TROAP EXON Missense_Q370H exm1000478 12 49723191 [A/G] NM_005480 TROAP EXON Missense_R373H exm1000482 12 49723709 [T/C] NM_005480 TROAP EXON Missense_P412S exm1000497 12 49724037 [A/C] NM_005480 TROAP EXON Missense_P470H exm1000503 12 49724144 [T/C] NM_005480 TROAP EXON Missense_P506S exm1000506 12 49724153 [A/T] NM_005480 TROAP EXON Missense_C509S exm1000521 12 49724664 [T/C] NM_005480 TROAP EXON Missense_P679L exm1000526 12 49725012 [T/C] NM_005480 TROAP EXON Missense_A705V exm1774867 12 49725141 [A/G] NM_005480 TROAP EXON Missense_R748Q exm1000543 12 49726851 [A/T] NM_001008223 C1QL4 EXON Missense_I235F exm1000581 12 49743097 [T/C] NM_024902 DNAJC22 EXON Missense_R148C exm1774887 12 49743098 [A/G] NM_024902 DNAJC22 EXON Missense_R148H exm1000583 12 49743142 [A/G] NM_024902 DNAJC22 EXON Missense_A163T exm1000592 12 49743206 [A/G] NM_024902 DNAJC22 EXON Missense_R184H exm1000593 12 49743212 [T/G] NM_024902 DNAJC22 EXON Missense_G186V exm1000598 12 49743343 [T/C] NM_024902 DNAJC22 EXON Missense_R230C exm1000602 12 49743397 [A/G] NM_024902 DNAJC22 EXON Missense_G248R exm1000606 12 49743491 [A/G] NM_024902 DNAJC22 EXON Missense_Y279C exm1000608 12 49745118 [A/G] NM_024902 DNAJC22 EXON Missense_G287R exm1000611 12 49745161 [T/C] NM_024902 DNAJC22 EXON Missense_V301A exm1000622 12 49878411 [A/G] NM_023071 SPATS2 EXON Missense_V22I exm1000625 12 49883266 [A/G] NM_023071 SPATS2 EXON Missense_I42V exm1000629 12 49884473 [A/G] NM_023071 SPATS2 EXON Missense_S75G exm1000634 12 49888546 [T/C] NM_023071 SPATS2 EXON Missense_P96L exm1774944 12 49888663 [A/G] NM_023071 SPATS2 EXON Missense_N135S exm1000644 12 49888675 [A/G] NM_023071 SPATS2 EXON Missense_N139S exm1000650 12 49888776 [A/G] NM_023071 SPATS2 EXON Missense_D173N exm2274588 12 49890694 [C/G] NM_023071 SPATS2 EXON Missense_P202R exm1000669 12 49918501 [A/G] NM_023071 SPATS2 EXON Missense_R383Q exm1000670 12 49918521 [C/G] NM_023071 SPATS2 EXON Missense_V390L exm1000676 12 49918663 [A/C] NM_023071 SPATS2 EXON Missense_Y437S exm1000684 12 49919845 [A/G] NM_023071 SPATS2 EXON Missense_Y482C exm1000690 12 49919934 [A/G] NM_023071 SPATS2 EXON Missense_G512R exm1000691 12 49919968 [T/C] NM_023071 SPATS2 EXON Missense_T523M exm1000700 12 49934793 [A/G] NM_012284 KCNH3 EXON Missense_R63Q exm1000734 12 49938045 [A/G] NM_012284 KCNH3 EXON Missense_A357T exm1775005 12 49950208 [T/C] NM_012284 KCNH3 EXON Missense_R842C exm1000786 12 49950220 [T/C] NM_012284 KCNH3 EXON Missense_S846P exm1000796 12 49951027 [A/C] NM_012284 KCNH3 EXON Missense_D879E exm1000811 12 49951296 [G/C] NM_012284 KCNH3 EXON Missense_L938V exm1000815 12 49951377 [T/C] NM_012284 KCNH3 EXON Missense_R965C exm1000832 12 49952434 [A/G] NM_001012300,NM_006337 MCRS1,MCRS1 EXON Missense_P474S,Missense_P461S exm1775018 12 49952450 [T/C] NM_001012300,NM_006337 MCRS1,MCRS1 EXON Synonymous_E468E,Synonymous_E455E exm2251023 12 49952450 [T/C] NM_001012300,NM_006337 MCRS1,MCRS1 EXON Synonymous_E468E,Synonymous_E455E exm1000847 12 49953587 [A/G] NM_001012300,NM_006337 MCRS1,MCRS1 EXON Missense_R323W,Missense_R310W exm1000859 12 49957267 [A/G] NM_001012300,NM_006337 MCRS1,MCRS1 EXON Missense_A220V,Missense_A207V exm1000886 12 49960215 [T/C] NM_001012300,NM_006337 MCRS1,MCRS1 EXON Missense_R3H,Silent exm1000903 12 49981468 [T/C] NR_027450,NM_032130 FAM186B,FAM186B EXON Silent,Missense_K868E exm1000909 12 49982238 [A/G] NR_027450,NM_032130 FAM186B,FAM186B EXON Silent,Missense_R845C exm1000910 12 49982242 [T/C] NR_027450,NM_032130 FAM186B,FAM186B EXON Silent,Missense_M843I exm1775079 12 49982243 [A/G] NR_027450,NM_032130 FAM186B,FAM186B EXON Silent,Missense_M843T exm1000912 12 49982264 [T/C] NR_027450,NM_032130 FAM186B,FAM186B EXON Silent,Missense_R836Q exm1000913 12 49982307 [A/G] NR_027450,NM_032130 FAM186B,FAM186B EXON Silent,Missense_P822S exm1000914 12 49982318 [T/C] NR_027450,NM_032130 FAM186B,FAM186B EXON Silent,Missense_R818Q exm1000915 12 49982319 [A/G] NR_027450,NM_032130 FAM186B,FAM186B EXON Silent,Missense_R818W exm1000919 12 49992644 [A/G] NR_027450,NM_032130 FAM186B,FAM186B EXON Silent,Missense_I753T exm1000922 12 49992692 [A/G] NR_027450,NM_032130 FAM186B,FAM186B EXON Silent,Missense_T737M exm1000923 12 49992722 [A/G] NR_027450,NM_032130 FAM186B,FAM186B EXON Silent,Missense_A727V exm1000924 12 49993253 [A/G] NR_027450,NM_032130 FAM186B,FAM186B EXON Silent,Missense_R724W exm1000931 12 49993394 [T/C] NR_027450,NM_032130 FAM186B,FAM186B EXON Silent,Missense_S677G exm1000938 12 49993555 [T/C] NR_027450,NM_032130 FAM186B,FAM186B EXON Silent,Missense_R623H exm1000943 12 49993633 [G/C] NR_027450,NM_032130 FAM186B,FAM186B EXON Silent,Missense_S597C exm1000945 12 49993646 [A/G] NR_027450,NM_032130 FAM186B,FAM186B EXON Silent,Missense_H593Y exm1000946 12 49993652 [T/A] NR_027450,NM_032130 FAM186B,FAM186B EXON Silent,Missense_R591W exm1000948 12 49993664 [A/G] NR_027450,NM_032130 FAM186B,FAM186B EXON Silent,Missense_H587Y exm1000949 12 49993678 [T/C] NR_027450,NM_032130 FAM186B,FAM186B EXON Silent,Missense_R582Q exm1000954 12 49993736 [T/C] NR_027450,NM_032130 FAM186B,FAM186B EXON Silent,Missense_T563A exm1000957 12 49993815 [G/C] NR_027450,NM_032130 FAM186B,FAM186B EXON Silent,Missense_Q536H exm1000958 12 49993816 [T/C] NR_027450,NM_032130 FAM186B,FAM186B EXON Silent,Missense_Q536R exm1775098 12 49993831 [T/A] NR_027450,NM_032130 FAM186B,FAM186B EXON Silent,Missense_Q531L exm1000974 12 49994054 [A/C] NR_027450,NM_032130 FAM186B,FAM186B EXON Silent,Missense_F457V exm1000980 12 49994215 [T/C] NR_027450,NM_032130 FAM186B,FAM186B EXON Silent,Missense_D403G exm1000983 12 49994231 [A/G] NR_027450,NM_032130 FAM186B,FAM186B EXON Silent,Missense_R398C exm1000984 12 49994234 [T/C] NR_027450,NM_032130 FAM186B,FAM186B EXON Silent,Missense_V397M exm1000988 12 49994291 [T/C] NR_027450,NM_032130 FAM186B,FAM186B EXON Silent,Missense_M378V exm1000997 12 49994658 [C/G] NR_027450,NM_032130 FAM186B,FAM186B EXON Silent,Missense_R255S exm1000999 12 49994760 [T/G] NR_027450,NM_032130 FAM186B,FAM186B EXON Silent,Missense_D221E exm1001002 12 49994785 [A/G] NR_027450,NM_032130 FAM186B,FAM186B EXON Silent,Missense_T213M exm1001009 12 49997057 [A/G] NR_027450,NM_032130 FAM186B,FAM186B EXON Silent,Missense_P139L exm1001011 12 49997088 [T/C] NR_027450,NM_032130 FAM186B,FAM186B EXON Silent,Missense_E129K exm1001016 12 49998097 [G/C] NR_027450,NM_032130 FAM186B,FAM186B EXON Silent,Missense_W107C exm1001018 12 49998113 [T/C] NR_027450,NM_032130 FAM186B,FAM186B EXON Silent,Missense_R102H exm1001032 12 49999176 [A/G] NR_027450,NM_032130 FAM186B,FAM186B EXON Silent,Missense_R29W exm1001074 12 50026663 [A/G] NM_001031698,NR_052006 PRPF40B,PRPF40B EXON Synonymous_P116P,Silent exm1001079 12 50026857 [A/G] NM_001031698,NR_052006 PRPF40B,PRPF40B EXON Missense_D137N,Silent exm1001086 12 50027247 [T/C] NM_001031698,NR_052006 PRPF40B,PRPF40B EXON Missense_S166L,Silent exm1001106 12 50028932 [T/C] NM_001031698,NR_052006 PRPF40B,PRPF40B EXON Missense_A351V,Silent exm1001114 12 50029178 [T/G] NM_001031698,NR_052006 PRPF40B,PRPF40B EXON Missense_E399D,Silent exm1001123 12 50029740 [A/G] NM_001031698,NR_052006 PRPF40B,PRPF40B EXON Missense_D464N,Silent exm1001127 12 50030592 [A/G] NM_001031698,NR_052006 PRPF40B,PRPF40B EXON Missense_R507Q,Silent exm1001141 12 50035695 [A/G] NM_001031698,NR_052006,NM_198900,NM_175736 PRPF40B,PRPF40B,FMNL3,FMNL3 EXON Missense_R591Q,Silent,Silent,Silent exm1001155 12 50036064 [A/C] NM_001031698,NR_052006,NM_198900,NM_175736 PRPF40B,PRPF40B,FMNL3,FMNL3 EXON Missense_E644A,Silent,Silent,Silent exm1001158 12 50036099 [T/C] NM_001031698,NR_052006,NM_198900,NM_175736 PRPF40B,PRPF40B,FMNL3,FMNL3 EXON Nonsense_R656X,Silent,Silent,Silent exm1001175 12 50037097 [T/C] NM_001031698,NR_052006,NM_198900,NM_175736 PRPF40B,PRPF40B,FMNL3,FMNL3 EXON Missense_P766L,Silent,Silent,Silent exm1001178 12 50037147 [T/C] NM_001031698,NR_052006,NM_198900,NM_175736 PRPF40B,PRPF40B,FMNL3,FMNL3 EXON Missense_R783W,Silent,Silent,Silent exm1001183 12 50037485 [T/C] NM_001031698,NR_052006,NM_198900,NM_175736 PRPF40B,PRPF40B,FMNL3,FMNL3 EXON Missense_R798W,Silent,Silent,Silent exm1001187 12 50037674 [A/G] NM_001031698,NR_052006,NM_198900,NM_175736 PRPF40B,PRPF40B,FMNL3,FMNL3 EXON Missense_E825K,Silent,Silent,Silent exm1001195 12 50037956 [A/G] NM_001031698,NR_052006,NM_198900,NM_175736 PRPF40B,PRPF40B,FMNL3,FMNL3 EXON Missense_Q887R,Silent,Silent,Silent exm1001201 12 50039668 [A/G] NM_198900,NM_175736 FMNL3,FMNL3 EXON Missense_M954T,Missense_M1005T exm1001223 12 50042110 [T/C] NM_198900,NM_175736 FMNL3,FMNL3 EXON Missense_V797M,Missense_V848M exm1001246 12 50043614 [A/G] NM_198900,NM_175736 FMNL3,FMNL3 EXON Missense_R648W,Missense_R699W exm1001254 12 50044492 [T/C] NM_198900,NM_175736 FMNL3,FMNL3 EXON Missense_R605H,Missense_R656H exm2251024 12 50044623 [T/C] NM_198900,NM_175736 FMNL3,FMNL3 EXON Synonymous_T561T,Synonymous_T612T exm1001261 12 50044960 [A/C] NM_198900,NM_175736 FMNL3,FMNL3 EXON Missense_K545N,Missense_K596N exm1001267 12 50045189 [T/C] NM_198900,NM_175736 FMNL3,FMNL3 EXON Missense_V499M,Missense_V550M exm1001287 12 50047067 [T/C] NM_198900,NM_175736 FMNL3,FMNL3 EXON Missense_R371Q,Missense_R422Q exm1001296 12 50048743 [G/C] NM_198900,NM_175736 FMNL3,FMNL3 EXON Missense_E253Q,Missense_E304Q exm1001305 12 50050953 [T/C] NM_198900,NM_175736 FMNL3,FMNL3 EXON Missense_R158H,Missense_R209H exm1001314 12 50052283 [T/C] NM_198900,NM_175736 FMNL3,FMNL3 EXON Silent,Missense_A183T exm1001317 12 50052307 [T/A] NM_198900,NM_175736 FMNL3,FMNL3 EXON Silent,Missense_I175F exm1775235 12 50100886 [A/C] NM_198900,NM_175736 FMNL3,FMNL3 EXON Missense_M26I,Missense_M26I exm1001340 12 50100925 [A/C] NM_198900,NM_175736 FMNL3,FMNL3 EXON Missense_E13D,Missense_E13D exm1001348 12 50146311 [C/G] NM_003217,NM_001098576 TMBIM6,TMBIM6 EXON Missense_A12G,Missense_A70G exm1001353 12 50146811 [A/G] NM_003217,NM_001098576 TMBIM6,TMBIM6 EXON Missense_M38V,Missense_M96V exm1001365 12 50152192 [T/C] NM_003217,NM_001098576 TMBIM6,TMBIM6 EXON Missense_T121M,Missense_T179M exm1001407 12 50186598 [T/C] NM_001037806 NCKAP5L EXON Missense_R1171H exm1001409 12 50186661 [A/G] NM_001037806 NCKAP5L EXON Missense_P1150L exm1001419 12 50187579 [A/C] NM_001037806 NCKAP5L EXON Missense_A1066S exm1001424 12 50187644 [T/C] NM_001037806 NCKAP5L EXON Missense_R1044Q exm1001429 12 50188574 [T/G] NM_001037806 NCKAP5L EXON Missense_D1023E exm1001443 12 50188909 [A/G] NM_001037806 NCKAP5L EXON Missense_R912C exm1001466 12 50189568 [A/G] NM_001037806 NCKAP5L EXON Missense_T692I exm1001468 12 50189602 [A/G] NM_001037806 NCKAP5L EXON Missense_S681P exm1001476 12 50189803 [G/C] NM_001037806 NCKAP5L EXON Missense_P614A exm1001490 12 50190160 [T/C] NM_001037806 NCKAP5L EXON Missense_G495S exm1001496 12 50190390 [T/C] NM_001037806 NCKAP5L EXON Missense_G418D exm1001508 12 50190667 [A/T] NM_001037806 NCKAP5L EXON Missense_L326M exm1001550 12 50196893 [T/C] NM_001037806 NCKAP5L EXON Missense_R60H exm1001555 12 50196938 [A/G] NM_001037806 NCKAP5L EXON Missense_S45L exm2251025 12 50218644 [T/C] NM_001037806 NCKAP5L Silent exm1001564 12 50232169 [A/T] NR_027499,NR_027500,NR_027501,NM_181708 BCDIN3D-AS1,BCDIN3D-AS1,BCDIN3D-AS1,BCDIN3D EXON Silent,Silent,Silent,Missense_S288R exm1001571 12 50232353 [T/C] NR_027499,NR_027500,NR_027501,NM_181708 BCDIN3D-AS1,BCDIN3D-AS1,BCDIN3D-AS1,BCDIN3D EXON Silent,Silent,Silent,Missense_R227Q exm1001574 12 50232435 [A/G] NR_027499,NR_027500,NR_027501,NM_181708 BCDIN3D-AS1,BCDIN3D-AS1,BCDIN3D-AS1,BCDIN3D EXON Silent,Silent,Silent,Missense_W200R exm1001583 12 50232608 [T/C] NR_027499,NR_027500,NR_027501,NM_181708 BCDIN3D-AS1,BCDIN3D-AS1,BCDIN3D-AS1,BCDIN3D EXON Silent,Silent,Silent,Missense_R142Q exm1001589 12 50232719 [T/C] NR_027499,NR_027500,NR_027501,NM_181708 BCDIN3D-AS1,BCDIN3D-AS1,BCDIN3D-AS1,BCDIN3D EXON Silent,Silent,Silent,Missense_R105H exm1775315 12 50232746 [A/G] NR_027499,NR_027500,NR_027501,NM_181708 BCDIN3D-AS1,BCDIN3D-AS1,BCDIN3D-AS1,BCDIN3D EXON Silent,Silent,Silent,Missense_T96I exm1001594 12 50232789 [T/C] NR_027499,NR_027500,NR_027501,NM_181708 BCDIN3D-AS1,BCDIN3D-AS1,BCDIN3D-AS1,BCDIN3D EXON Silent,Silent,Silent,Missense_V82M exm1001600 12 50236674 [T/C] NM_181708 BCDIN3D EXON Missense_G66E exm1001605 12 50236782 [A/G] NM_181708 BCDIN3D EXON Missense_P30L exm1001607 12 50236848 [T/C] NM_181708 BCDIN3D EXON Missense_D8G exm-rs7138803 12 50247468 [A/G] exm2273491 12 50263148 [A/G] NM_012306 FAIM2 EXON Silent exm1001620 12 50282969 [T/C] NM_012306 FAIM2 EXON Missense_C223Y exm1775338 12 50283307 [C/G] NM_012306 FAIM2 EXON Missense_A203G exm1001640 12 50291838 [T/C] NM_012306 FAIM2 EXON Missense_G83R exm1001666 12 50344627 [A/G] NM_000486 AQP2 EXON Missense_R5H exm1001669 12 50344683 [A/G] NM_000486 AQP2 EXON Missense_V24I exm1001678 12 50344816 [A/C] NM_000486 AQP2 EXON Missense_N68T exm1001728 12 50355937 [T/C] NM_001651 AQP5 EXON Missense_A46V exm1001746 12 50357371 [T/C] NM_001651 AQP5 EXON Missense_R154C exm1001753 12 50357924 [T/C] NM_001651 AQP5 EXON Missense_A193V exm1001760 12 50358796 [A/G] NM_001651 AQP5 EXON Missense_V212M exm1001769 12 50358901 [A/G] NM_001651 AQP5 EXON Missense_E247K exm1001770 12 50358920 [A/G] NM_001651 AQP5 EXON Missense_R253Q exm1001771 12 50358929 [A/G] NM_001651 AQP5 EXON Missense_R256Q exm2260081 12 50366300 [A/G] exm1001774 12 50366958 [T/C] NM_001652 AQP6 EXON Missense_M1T exm1001775 12 50366963 [T/G] NM_001652 AQP6 EXON Missense_A3S exm1001778 12 50366997 [T/G] NM_001652 AQP6 EXON Missense_M14R exm1001781 12 50367027 [T/G] NM_001652 AQP6 EXON Missense_S24I exm1001787 12 50367096 [A/G] NM_001652 AQP6 EXON Missense_R47H exm1001800 12 50367213 [T/C] NM_001652 AQP6 EXON Missense_T86M exm1001818 12 50368135 [T/C] NM_001652 AQP6 EXON Missense_A144V exm1001820 12 50368200 [G/C] NM_001652 AQP6 EXON Missense_R166G exm1001828 12 50369305 [A/G] NM_001652 AQP6 EXON Missense_V234I exm1001851 12 50385805 [T/C] NM_001126103,NM_001126104,NM_013277 RACGAP1,RACGAP1,RACGAP1 EXON Missense_T564A,Missense_T564A,Missense_T564A exm1001860 12 50386126 [T/C] NM_001126103,NM_001126104,NM_013277 RACGAP1,RACGAP1,RACGAP1 EXON Missense_A494T,Missense_A494T,Missense_A494T exm2220614 12 50387956 [T/G] NM_001126103,NM_001126104,NM_013277 RACGAP1,RACGAP1,RACGAP1 EXON Missense_L433I,Missense_L433I,Missense_L433I exm1001879 12 50395034 [T/C] NM_001126103,NM_001126104,NM_013277 RACGAP1,RACGAP1,RACGAP1 EXON Missense_R184H,Missense_R184H,Missense_R184H exm1001889 12 50400225 [T/C] NM_001126103,NM_001126104,NM_013277 RACGAP1,RACGAP1,RACGAP1 EXON Missense_E94K,Missense_E94K,Missense_E94K exm1001891 12 50400300 [T/C] NM_001126103,NM_001126104,NM_013277 RACGAP1,RACGAP1,RACGAP1 EXON Missense_D69N,Missense_D69N,Missense_D69N exm1001892 12 50400359 [T/C] NM_001126103,NM_001126104,NM_013277 RACGAP1,RACGAP1,RACGAP1 EXON Missense_H49R,Missense_H49R,Missense_H49R exm1001895 12 50400395 [A/T] NM_001126103,NM_001126104,NM_013277 RACGAP1,RACGAP1,RACGAP1 EXON Missense_F37Y,Missense_F37Y,Missense_F37Y exm1001904 12 50410489 [T/C] NM_001126103,NM_001126104,NM_013277 RACGAP1,RACGAP1,RACGAP1 EXON Missense_M4V,Missense_M4V,Missense_M4V exm1001932 12 50471784 [T/C] NM_020039,NM_001095,NR_046389,NM_001256830 ASIC1,ASIC1,ASIC1,ASIC1 EXON Synonymous_D237D,Synonymous_D237D,Silent,Synonymous_D271D exm1001947 12 50473717 [A/G] NM_020039,NM_001095,NR_046389,NM_001256830 ASIC1,ASIC1,ASIC1,ASIC1 EXON Missense_V362M,Missense_V362M,Silent,Missense_V396M exm1001955 12 50474409 [A/G] NM_020039,NM_001095,NR_046389,NM_001256830 ASIC1,ASIC1,ASIC1,ASIC1 EXON Missense_H445R,Silent,Silent,Silent exm1001972 12 50480102 [T/G] NM_139071,NM_003076 SMARCD1,SMARCD1 EXON Missense_Q112H,Missense_Q112H exm1775479 12 50483727 [A/G] NM_139071,NM_003076 SMARCD1,SMARCD1 EXON Missense_V278M,Missense_V278M exm1002019 12 50497834 [A/G] NM_001257199,NM_005276 GPD1,GPD1 EXON Missense_M1V,Missense_M1V exm1002023 12 50498412 [A/G] NM_001257199,NM_005276 GPD1,GPD1 EXON Missense_D33N,Missense_D33N exm1002029 12 50498475 [A/G] NM_001257199,NM_005276 GPD1,GPD1 EXON Missense_I54V,Missense_I54V exm1002038 12 50500071 [A/G] NM_001257199,NM_005276 GPD1,GPD1 EXON Missense_G98R,Missense_G121R exm1002040 12 50500080 [A/G] NM_001257199,NM_005276 GPD1,GPD1 EXON Missense_E101K,Missense_E124K exm1002043 12 50500117 [T/C] NM_001257199,NM_005276 GPD1,GPD1 EXON Missense_I113T,Missense_I136T exm2220621 12 50500125 [T/C] NM_001257199,NM_005276 GPD1,GPD1 EXON Missense_R116C,Missense_R139C exm1002045 12 50500141 [T/C] NM_001257199,NM_005276 GPD1,GPD1 EXON Missense_M121T,Missense_M144T exm1002050 12 50500600 [T/C] NM_001257199,NM_005276 GPD1,GPD1 EXON Missense_P148L,Missense_P171L exm1002054 12 50500678 [T/C] NM_001257199,NM_005276 GPD1,GPD1 EXON Missense_V174A,Missense_V197A exm1002055 12 50500700 [A/G] NM_001257199,NM_005276 GPD1,GPD1 EXON Synonymous_K181K,Synonymous_K204K exm1002064 12 50501423 [A/G] NM_001257199,NM_005276 GPD1,GPD1 EXON Missense_R206Q,Missense_R229Q exm1002065 12 50501444 [T/C] NM_001257199,NM_005276 GPD1,GPD1 EXON Missense_I213T,Missense_I236T exm1002066 12 50501452 [A/G] NM_001257199,NM_005276 GPD1,GPD1 EXON Missense_A216T,Missense_A239T exm1002074 12 50501810 [A/G] NM_001257199,NM_005276 GPD1,GPD1 EXON Missense_I261V,Missense_I284V exm1002078 12 50501870 [T/C] NM_001257199,NM_005276 GPD1,GPD1 EXON Missense_R281W,Missense_R304W exm1002093 12 50513947 [T/C] NM_001257133,NM_032901,NM_001257134 COX14,COX14,COX14 EXON Missense_R41C,Missense_R41C,Missense_R41C exm1002099 12 50524345 [A/G] NM_147190 CERS5 EXON Missense_Y388H exm1002101 12 50524371 [T/C] NM_147190 CERS5 EXON Missense_R379Q exm1002112 12 50528474 [A/G] NM_147190 CERS5 EXON Missense_T295M exm1002115 12 50529528 [T/C] NM_147190 CERS5 EXON Missense_I287V exm1002118 12 50529805 [G/C] NM_147190 CERS5 EXON Missense_I228M exm1002126 12 50535840 [A/C] NM_147190 CERS5 EXON Missense_W163L exm1002135 12 50536927 [T/G] NM_147190 CERS5 EXON Missense_I122L exm1002136 12 50536932 [T/C] NM_147190 CERS5 EXON Missense_R120Q exm1002140 12 50537803 [T/C] NM_147190 CERS5 EXON Missense_E79K exm1002141 12 50537815 [A/G] NM_147190 CERS5 EXON Missense_C75R exm1002142 12 50537839 [A/G] NM_147190 CERS5 EXON Missense_F67L exm1775530 12 50560980 [T/C] NM_147190 CERS5 EXON Missense_G34E exm1002144 12 50560987 [G/C] NM_147190 CERS5 EXON Missense_L32V exm1002146 12 50561023 [A/G] NM_147190 CERS5 EXON Missense_R20C exm1002160 12 50571106 [A/G] NM_001113546,NM_016357,NM_001243775,NM_001113547 LIMA1,LIMA1,LIMA1,LIMA1 EXON Missense_M675T,Missense_M674T,Missense_M372T,Missense_M515T exm1002182 12 50571569 [T/C] NM_001113546,NM_016357,NM_001243775,NM_001113547 LIMA1,LIMA1,LIMA1,LIMA1 EXON Missense_D521N,Missense_D520N,Missense_D218N,Missense_D361N exm1002195 12 50575756 [T/C] NM_001113546,NM_016357,NM_001243775,NM_001113547 LIMA1,LIMA1,LIMA1,LIMA1 EXON Missense_R403H,Missense_R402H,Missense_R100H,Missense_R243H exm1002197 12 50586267 [A/G] NM_001113546,NM_016357,NM_001243775,NM_001113547 LIMA1,LIMA1,LIMA1,LIMA1 EXON Missense_L371F,Missense_L370F,Missense_L68F,Missense_L211F exm1002199 12 50586275 [A/G] NM_001113546,NM_016357,NM_001243775,NM_001113547 LIMA1,LIMA1,LIMA1,LIMA1 EXON Missense_A368V,Missense_A367V,Missense_A65V,Missense_A208V exm1002219 12 50599845 [A/G] NM_001113546,NM_016357,NM_001113547 LIMA1,LIMA1,LIMA1 EXON Missense_R213W,Missense_R213W,Missense_R53W exm1002220 12 50599848 [T/G] NM_001113546,NM_016357,NM_001113547 LIMA1,LIMA1,LIMA1 EXON Missense_L212I,Missense_L212I,Missense_L52I exm1002227 12 50616019 [A/G] NM_001113546,NM_016357,NM_001113547 LIMA1,LIMA1,LIMA1 EXON Nonsense_Q139X,Nonsense_Q139X,Silent exm1775555 12 50616022 [T/C] NM_001113546,NM_016357,NM_001113547 LIMA1,LIMA1,LIMA1 EXON Missense_V138I,Missense_V138I,Silent exm1002232 12 50616073 [C/G] NM_001113546,NM_016357,NM_001113547 LIMA1,LIMA1,LIMA1 EXON Missense_E121Q,Missense_E121Q,Silent exm1002233 12 50616079 [T/C] NM_001113546,NM_016357,NM_001113547 LIMA1,LIMA1,LIMA1 EXON Missense_D119N,Missense_D119N,Silent exm1002244 12 50625456 [T/G] NM_001113546,NM_016357 LIMA1,LIMA1 EXON Missense_K53Q,Missense_K53Q exm1002252 12 50642462 [T/G] NM_001113546,NM_016357 LIMA1,LIMA1 EXON Missense_L25I,Missense_L25I exm1002255 12 50724422 [A/G] NM_001145475 FAM186A EXON Missense_I2323T exm1002256 12 50724444 [C/G] NM_001145475 FAM186A EXON Missense_Q2316E exm1002257 12 50724450 [T/A] NM_001145475 FAM186A EXON Missense_W2314R exm1002260 12 50727706 [G/C] NM_001145475 FAM186A EXON Missense_H2228Q exm2220625 12 50727782 [T/C] NM_001145475 FAM186A EXON Missense_K2203R exm1002264 12 50727811 [T/C] NM_001145475 FAM186A EXON Missense_M2193I exm1002266 12 50727870 [A/G] NM_001145475 FAM186A EXON Nonsense_R2174X exm1002276 12 50744119 [A/G] NM_001145475 FAM186A EXON Missense_H2166Y exm1002286 12 50744581 [A/T] NM_001145475 FAM186A EXON Missense_F2012I exm1002287 12 50744680 [G/C] NM_001145475 FAM186A EXON Missense_A1979P exm1002293 12 50745094 [G/C] NM_001145475 FAM186A EXON Missense_G1841R exm1002300 12 50745394 [T/C] NM_001145475 FAM186A EXON Missense_A1741T exm1002301 12 50745415 [G/C] NM_001145475 FAM186A EXON Missense_P1734A exm1002302 12 50745457 [A/C] NM_001145475 FAM186A EXON Missense_A1720S exm1002304 12 50745513 [A/G] NM_001145475 FAM186A EXON Missense_S1701L exm1002310 12 50745673 [T/C] NM_001145475 FAM186A EXON Missense_G1648R exm1002390 12 50747880 [T/C] NM_001145475 FAM186A EXON Missense_Q912R exm1002391 12 50748009 [T/C] NM_001145475 FAM186A EXON Missense_Q869R exm1002393 12 50748055 [A/G] NM_001145475 FAM186A EXON Missense_Y854H exm1002397 12 50748127 [T/C] NM_001145475 FAM186A EXON Missense_G830S exm1002399 12 50748169 [T/G] NM_001145475 FAM186A EXON Missense_K816Q exm2251026 12 50748272 [A/G] NM_001145475 FAM186A EXON Synonymous_Y781Y exm1002412 12 50748940 [A/G] NM_001145475 FAM186A EXON Missense_R559C exm1002414 12 50749221 [G/C] NM_001145475 FAM186A EXON Missense_A465G exm1002415 12 50749227 [T/G] NM_001145475 FAM186A EXON Missense_K463T exm1002417 12 50749321 [T/C] NM_001145475 FAM186A EXON Missense_E432K exm1002419 12 50749554 [T/G] NM_001145475 FAM186A EXON Missense_P354H exm-IND12-49036005 12 50749739 [I/D] NM_001145475 FAM186A EXON exm1002434 12 50754563 [T/G] NM_001145475 FAM186A EXON Missense_K187Q exm1002436 12 50754577 [C/G] NM_001145475 FAM186A EXON Missense_S182C exm1002438 12 50754708 [A/G] NM_001145475 FAM186A EXON Synonymous_N138N exm1002440 12 50757020 [T/G] NM_001145475 FAM186A EXON Missense_T107N exm2271842 12 50768339 [T/C] NM_001145475 FAM186A Silent exm1002443 12 50790099 [T/C] NM_001145475 FAM186A EXON Missense_A57T exm1002449 12 50821551 [T/G] NM_001170803,NM_052879,NM_001170804,NM_199190,NM_199188,NR_033200,NM_001170808 LARP4,LARP4,LARP4,LARP4,LARP4,LARP4,LARP4 EXON Missense_A9S,Missense_A9S,Missense_A9S,Missense_A9S,Missense_A8S,Silent,Missense_A9S exm1775563 12 50821671 [A/G] NM_001170803,NM_052879,NM_001170804,NM_199190,NM_199188,NR_033200,NM_001170808 LARP4,LARP4,LARP4,LARP4,LARP4,LARP4,LARP4 EXON Missense_T49A,Missense_T49A,Missense_T49A,Missense_T49A,Missense_T48A,Silent,Missense_T49A exm1002452 12 50821692 [A/G] NM_001170803,NM_052879,NM_001170804,NM_199190,NM_199188,NR_033200,NM_001170808 LARP4,LARP4,LARP4,LARP4,LARP4,LARP4,LARP4 EXON Missense_G56S,Missense_G56S,Missense_G56S,Missense_G56S,Missense_G55S,Silent,Missense_G56S exm1002477 12 50847391 [T/C] NM_001170803,NM_052879,NM_001170804,NM_199190,NM_199188,NR_033200,NM_001170808 LARP4,LARP4,LARP4,LARP4,LARP4,LARP4,LARP4 EXON Silent,Missense_S318L,Missense_S318L,Silent,Missense_S317L,Silent,Missense_S318L exm1002478 12 50847393 [A/G] NM_001170803,NM_052879,NM_001170804,NM_199190,NM_199188,NR_033200,NM_001170808 LARP4,LARP4,LARP4,LARP4,LARP4,LARP4,LARP4 EXON Silent,Missense_V319I,Missense_V319I,Silent,Missense_V318I,Silent,Missense_V319I exm1002481 12 50848132 [T/A] NM_001170803,NM_052879,NM_001170804,NM_199190,NM_199188,NR_033200,NM_001170808 LARP4,LARP4,LARP4,LARP4,LARP4,LARP4,LARP4 EXON Missense_F280L,Missense_F351L,Missense_F351L,Missense_F280L,Missense_F350L,Silent,Missense_F351L exm1002501 12 50860850 [T/C] NM_001170803,NM_052879,NM_199190,NM_199188,NM_001170808 LARP4,LARP4,LARP4,LARP4,LARP4 EXON Missense_L356F,Missense_L498F,Missense_L427F,Missense_L497F,Missense_L427F exm1002504 12 50860863 [A/C] NM_001170803,NM_052879,NM_199190,NM_199188,NM_001170808 LARP4,LARP4,LARP4,LARP4,LARP4 EXON Missense_N360T,Missense_N502T,Missense_N431T,Missense_N501T,Missense_N431T exm1002511 12 50867910 [A/G] NM_001170803,NM_052879,NM_199190,NM_199188,NM_001170808 LARP4,LARP4,LARP4,LARP4,LARP4 EXON Missense_C457Y,Missense_C599Y,Missense_C528Y,Missense_C598Y,Missense_C528Y exm1002524 12 50869569 [A/T] NM_001170803,NM_052879,NM_199190,NM_199188,NM_001170808 LARP4,LARP4,LARP4,LARP4,LARP4 EXON Missense_F557L,Missense_F699L,Missense_F628L,Missense_F698L,Missense_F628L exm2251027 12 50880216 [T/C] exm-rs10876041 12 50901882 [T/C] NM_173602 DIP2B Silent exm1002546 12 51065164 [T/C] NM_173602 DIP2B EXON Missense_F208S exm1002555 12 51068409 [A/G] NM_173602 DIP2B EXON Missense_D265N exm1002570 12 51072591 [G/C] NM_173602 DIP2B EXON Missense_T349S exm1002571 12 51072605 [T/C] NM_173602 DIP2B EXON Missense_S354P exm2220637 12 51079619 [A/G] NM_173602 DIP2B EXON Missense_A441T exm1002585 12 51080364 [T/C] NM_173602 DIP2B EXON Missense_R484W exm1002587 12 51080389 [A/C] NM_173602 DIP2B EXON Missense_S492Y exm1002601 12 51089137 [T/C] NM_173602 DIP2B EXON Missense_H603Y exm1002603 12 51089718 [A/G] NM_173602 DIP2B EXON Missense_R634Q exm1002616 12 51097971 [A/G] NM_173602 DIP2B EXON Missense_I792V exm1002627 12 51108283 [A/C] NM_173602 DIP2B EXON Missense_Q919K exm1002629 12 51108374 [A/C] NM_173602 DIP2B EXON Missense_Q949P exm1002630 12 51112509 [A/G] NM_173602 DIP2B EXON Missense_V957M exm1002632 12 51112601 [C/G] NM_173602 DIP2B EXON Missense_K987N exm1002634 12 51112738 [T/C] NM_173602 DIP2B EXON Missense_H988Y exm1002665 12 51125275 [A/G] NM_173602 DIP2B EXON Missense_M1255I exm1002672 12 51126212 [A/G] NM_173602 DIP2B EXON Missense_V1292I exm1775685 12 51135200 [A/G] NM_173602 DIP2B EXON Synonymous_E1452E exm-rs11169552 12 51155663 [T/C] exm1002710 12 51189699 [G/C] NM_005171 ATF1 EXON Missense_S34C exm1002719 12 51203291 [A/G] NM_005171 ATF1 EXON Missense_G83R exm1002721 12 51203371 [T/C] NM_005171 ATF1 EXON Synonymous_Y109Y exm1002726 12 51207850 [A/G] NM_005171 ATF1 EXON Missense_Q129R exm1002727 12 51207871 [A/T] NM_005171 ATF1 EXON Missense_M136K exm1002728 12 51207872 [T/G] NM_005171 ATF1 EXON Missense_M136I exm2220641 12 51208104 [T/C] NM_005171 ATF1 EXON Missense_P185S exm1002733 12 51208122 [G/C] NM_005171 ATF1 EXON Missense_P191A exm-rs17291650 12 51213433 [A/G] NM_005171 ATF1 EXON Synonymous_E229E exm2273492 12 51213765 [T/C] NM_005171 ATF1 EXON Silent exm1002742 12 51236802 [T/C] NM_182559 TMPRSS12 EXON Missense_Y19H exm1002743 12 51236805 [T/C] NM_182559 TMPRSS12 EXON Missense_S20P exm1002744 12 51236806 [C/G] NM_182559 TMPRSS12 EXON Nonsense_S20X exm1002745 12 51236818 [C/G] NM_182559 TMPRSS12 EXON Missense_S24W exm1002754 12 51237648 [T/G] NM_182559 TMPRSS12 EXON Missense_D71Y exm1002757 12 51237666 [T/C] NM_182559 TMPRSS12 EXON Missense_R77W exm1002762 12 51237816 [A/G] NM_182559 TMPRSS12 EXON Missense_A127T exm1002769 12 51252699 [T/C] NM_182559 TMPRSS12 EXON Missense_I172T exm1002771 12 51252787 [A/C] NM_182559 TMPRSS12 EXON Missense_D201E exm1002774 12 51279068 [T/A] NM_182559 TMPRSS12 EXON Missense_Y231F exm2251028 12 51279087 [T/C] NM_182559 TMPRSS12 EXON Synonymous_C237C exm1002777 12 51281091 [C/G] NM_182559 TMPRSS12 EXON Missense_R281T exm1002778 12 51281120 [A/G] NM_182559 TMPRSS12 EXON Missense_G291R exm1002779 12 51281135 [T/C] NM_182559 TMPRSS12 EXON Nonsense_R296X exm1002780 12 51281153 [A/G] NM_182559 TMPRSS12 EXON Missense_V302I exm1002781 12 51281163 [A/G] NM_182559 TMPRSS12 EXON Missense_G305E exm1002783 12 51281243 [T/C] NM_182559 TMPRSS12 EXON Missense_R332C exm1002784 12 51281289 [G/C] NM_182559 TMPRSS12 EXON Missense_T347R exm1002785 12 51281292 [G/C] NM_182559 TMPRSS12 EXON Missense_T348R exm1002794 12 51319117 [G/C] NM_014033 METTL7A EXON Missense_P99R exm1002809 12 51323778 [A/G] NM_014033 METTL7A EXON Missense_A194T exm1775716 12 51323827 [A/G] NM_014033 METTL7A EXON Missense_K210R exm1775718 12 51347833 [T/C] NM_001109619 HIGD1C EXON Nonsense_R18X exm1002814 12 51347836 [G/C] NM_001109619 HIGD1C EXON Missense_L19V exm1002816 12 51354760 [A/G] NM_001109619 HIGD1C EXON Missense_G35D exm1002817 12 51354774 [A/G] NM_001109619 HIGD1C EXON Missense_V40M exm1002820 12 51354842 [A/G] NM_001109619 HIGD1C EXON Missense_M62I exm-rs12304921 12 51357542 [A/G] NM_001109619 HIGD1C Silent exm1002830 12 51382124 [T/C] NR_033422,NM_001174126,NM_001174127,NR_033421,NM_001174128,NM_001174129,NM_000617,NM_001174125,NM_001174130 SLC11A2,SLC11A2,SLC11A2,SLC11A2,SLC11A2,SLC11A2,SLC11A2,SLC11A2,SLC11A2 EXON Silent,Silent,Silent,Silent,Missense_R557H,Missense_R557H,Missense_R557H,Missense_R586H,Missense_R553H exm1002842 12 51384724 [C/G] NR_033422,NM_001174126,NM_001174127,NR_033421,NM_001174128,NM_001174129,NM_000617,NM_001174125,NM_001174130 SLC11A2,SLC11A2,SLC11A2,SLC11A2,SLC11A2,SLC11A2,SLC11A2,SLC11A2,SLC11A2 EXON Silent,Missense_R477G,Missense_R477G,Silent,Missense_R477G,Missense_R477G,Missense_R477G,Missense_R506G,Missense_R473G exm1002848 12 51386017 [T/G] NR_033422,NM_001174126,NM_001174127,NR_033421,NM_001174128,NM_001174129,NM_000617,NM_001174125,NM_001174130 SLC11A2,SLC11A2,SLC11A2,SLC11A2,SLC11A2,SLC11A2,SLC11A2,SLC11A2,SLC11A2 EXON Silent,Missense_L435I,Missense_L435I,Silent,Missense_L435I,Missense_L435I,Missense_L435I,Missense_L464I,Missense_L431I exm1002850 12 51386062 [T/C] NR_033422,NM_001174126,NM_001174127,NR_033421,NM_001174128,NM_001174129,NM_000617,NM_001174125,NM_001174130 SLC11A2,SLC11A2,SLC11A2,SLC11A2,SLC11A2,SLC11A2,SLC11A2,SLC11A2,SLC11A2 EXON Silent,Missense_I420V,Missense_I420V,Silent,Missense_I420V,Missense_I420V,Missense_I420V,Missense_I449V,Missense_I416V exm1002859 12 51389509 [A/G] NR_033422,NM_001174126,NM_001174127,NR_033421,NM_001174128,NM_001174129,NM_000617,NM_001174125,NM_001174130 SLC11A2,SLC11A2,SLC11A2,SLC11A2,SLC11A2,SLC11A2,SLC11A2,SLC11A2,SLC11A2 EXON Silent,Missense_I298T,Missense_I298T,Silent,Missense_I298T,Missense_I298T,Missense_I298T,Missense_I327T,Missense_I294T exm1002872 12 51393007 [T/C] NR_033422,NM_001174126,NM_001174127,NR_033421,NM_001174128,NM_001174129,NM_000617,NM_001174125,NM_001174130 SLC11A2,SLC11A2,SLC11A2,SLC11A2,SLC11A2,SLC11A2,SLC11A2,SLC11A2,SLC11A2 EXON Silent,Missense_A209T,Missense_A209T,Silent,Missense_A209T,Missense_A209T,Missense_A209T,Missense_A238T,Missense_A205T exm2251029 12 51398607 [G/C] NR_033422,NM_001174126,NM_001174127,NR_033421,NM_001174128,NM_001174129,NM_000617,NM_001174125,NM_001174130 SLC11A2,SLC11A2,SLC11A2,SLC11A2,SLC11A2,SLC11A2,SLC11A2,SLC11A2,SLC11A2 EXON Silent,Synonymous_L131L,Synonymous_L131L,Silent,Synonymous_L131L,Synonymous_L131L,Synonymous_L131L,Synonymous_L160L,Synonymous_L127L exm1002887 12 51399206 [T/C] NR_033422,NM_001174126,NM_001174127,NR_033421,NM_001174128,NM_001174129,NM_000617,NM_001174125,NM_001174130 SLC11A2,SLC11A2,SLC11A2,SLC11A2,SLC11A2,SLC11A2,SLC11A2,SLC11A2,SLC11A2 EXON Silent,Missense_S66N,Missense_S66N,Silent,Missense_S66N,Missense_S66N,Missense_S66N,Missense_S95N,Missense_S62N exm1002888 12 51399219 [A/G] NR_033422,NM_001174126,NM_001174127,NR_033421,NM_001174128,NM_001174129,NM_000617,NM_001174125,NM_001174130 SLC11A2,SLC11A2,SLC11A2,SLC11A2,SLC11A2,SLC11A2,SLC11A2,SLC11A2,SLC11A2 EXON Silent,Missense_Y62H,Missense_Y62H,Silent,Missense_Y62H,Missense_Y62H,Missense_Y62H,Missense_Y91H,Missense_Y58H exm1002895 12 51402905 [T/G] NR_033422,NM_001174126,NM_001174127,NR_033421,NM_001174128,NM_001174129,NM_000617,NM_001174125,NM_001174130 SLC11A2,SLC11A2,SLC11A2,SLC11A2,SLC11A2,SLC11A2,SLC11A2,SLC11A2,SLC11A2 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_Y6S exm1002903 12 51442209 [A/G] NR_045020,NR_045018,NM_015416,NR_045019,NM_001243689,NR_045017 LETMD1,LETMD1,LETMD1,LETMD1,LETMD1,LETMD1 EXON Silent,Silent,Missense_V24I,Silent,Missense_V24I,Silent exm1002904 12 51442215 [T/C] NR_045020,NR_045018,NM_015416,NR_045019,NM_001243689,NR_045017 LETMD1,LETMD1,LETMD1,LETMD1,LETMD1,LETMD1 EXON Silent,Silent,Missense_R26W,Silent,Missense_R26W,Silent exm1002912 12 51442944 [A/G] NR_045020,NR_045018,NM_015416,NR_045019,NM_001243689,NR_045017 LETMD1,LETMD1,LETMD1,LETMD1,LETMD1,LETMD1 EXON Silent,Silent,Missense_V84I,Silent,Missense_V84I,Silent exm1002914 12 51445991 [A/G] NR_045020,NR_045018,NM_015416,NR_045019,NM_001243689,NR_045017 LETMD1,LETMD1,LETMD1,LETMD1,LETMD1,LETMD1 EXON Silent,Silent,Silent,Silent,Missense_V131I,Silent exm1002916 12 51447585 [T/C] NR_045020,NR_045018,NM_015416,NR_045019,NM_001243689,NR_045017 LETMD1,LETMD1,LETMD1,LETMD1,LETMD1,LETMD1 EXON Silent,Silent,Missense_L139F,Silent,Missense_L152F,Silent exm1002921 12 51449683 [T/C] NR_045020,NR_045018,NM_015416,NR_045019,NM_001243689,NR_045017 LETMD1,LETMD1,LETMD1,LETMD1,LETMD1,LETMD1 EXON Silent,Silent,Missense_L180S,Silent,Missense_L193S,Silent exm1002942 12 51451867 [A/G] NR_045020,NR_045018,NM_015416,NR_045019,NM_001243689,NR_045017 LETMD1,LETMD1,LETMD1,LETMD1,LETMD1,LETMD1 EXON Silent,Silent,Missense_R323Q,Silent,Missense_R336Q,Silent exm1002947 12 51453209 [T/C] NR_045020,NR_045018,NM_015416,NR_045019,NM_001243689,NR_045017 LETMD1,LETMD1,LETMD1,LETMD1,LETMD1,LETMD1 EXON Silent,Silent,Missense_R360C,Silent,Missense_R373C,Silent exm1002952 12 51457549 [G/C] NM_030809,NR_045072 CSRNP2,CSRNP2 EXON Missense_E538Q,Silent exm1002962 12 51457720 [C/G] NM_030809,NR_045072 CSRNP2,CSRNP2 EXON Missense_L481V,Silent exm1002971 12 51457854 [A/G] NM_030809,NR_045072 CSRNP2,CSRNP2 EXON Missense_T436M,Silent exm1002973 12 51457921 [T/C] NM_030809,NR_045072 CSRNP2,CSRNP2 EXON Missense_S414G,Silent exm1002975 12 51457975 [T/C] NM_030809,NR_045072 CSRNP2,CSRNP2 EXON Missense_E396K,Silent exm1002980 12 51458089 [T/C] NM_030809,NR_045072 CSRNP2,CSRNP2 EXON Missense_V358M,Silent exm1002981 12 51458101 [T/C] NM_030809,NR_045072 CSRNP2,CSRNP2 EXON Missense_E354K,Silent exm2251030 12 51458273 [T/C] NM_030809,NR_045072 CSRNP2,CSRNP2 EXON Synonymous_P296P,Silent exm1775781 12 51458274 [A/G] NM_030809,NR_045072 CSRNP2,CSRNP2 EXON Missense_P296L,Silent exm1002989 12 51458310 [A/C] NM_030809,NR_045072 CSRNP2,CSRNP2 EXON Missense_V284G,Silent exm1003002 12 51467822 [A/C] NM_030809,NR_045072 CSRNP2,CSRNP2 EXON Missense_N65K,Silent exm1003011 12 51470331 [A/G] NM_030809,NR_045072 CSRNP2,CSRNP2 EXON Missense_T5M,Silent exm1003042 12 51502948 [T/C] NM_001173453,NM_005653,NM_001173452 TFCP2,TFCP2,TFCP2 EXON Silent,Missense_T225A,Missense_T225A exm2267349 12 51531576 [A/G] NM_001173453,NM_005653,NM_001173452 TFCP2,TFCP2,TFCP2 Silent,Silent,Silent exm1003073 12 51584296 [G/C] NM_002702,NR_026893 POU6F1,POU6F1 EXON Missense_L214V,Silent exm1003090 12 51589851 [T/C] NM_002702,NR_026893 POU6F1,POU6F1 EXON Missense_A51T,Silent exm1003094 12 51590593 [T/C] NM_002702,NR_026893 POU6F1,POU6F1 EXON Missense_A12T,Silent exm1003114 12 51636174 [T/G] NM_001136268,NM_001136266,NM_014764,NM_001136269,NM_001136264,NM_001136267 DAZAP2,DAZAP2,DAZAP2,DAZAP2,DAZAP2,DAZAP2 EXON Missense_V65F,Missense_R121L,Missense_V147F,Silent,Missense_V125F,Missense_V115F exm2220646 12 51639760 [A/C] NM_001136269,NM_001033873,NM_001031628 DAZAP2,SMAGP,SMAGP EXON Silent,Missense_A87S,Missense_A87S exm1775866 12 51639784 [T/C] NM_001136269,NM_001033873,NM_001031628 DAZAP2,SMAGP,SMAGP EXON Silent,Missense_I79V,Missense_I79V exm1003122 12 51639866 [A/G] NM_001136269,NM_001033873,NM_001031628 DAZAP2,SMAGP,SMAGP EXON Missense_D134N,Synonymous_V51V,Synonymous_V51V exm1003123 12 51639869 [T/C] NM_001136269,NM_001033873,NM_001031628 DAZAP2,SMAGP,SMAGP EXON Nonsense_R135X,Synonymous_S50S,Synonymous_S50S exm1003125 12 51639899 [A/G] NM_001136269,NM_001033873,NM_001031628 DAZAP2,SMAGP,SMAGP EXON Missense_N145D,Synonymous_V40V,Synonymous_V40V exm2264491 12 51656651 [A/C] NM_001033873,NM_001031628 SMAGP,SMAGP Silent,Silent exm1003130 12 51663050 [C/G] NM_001033873,NM_001031628 SMAGP,SMAGP EXON Missense_L5V,Missense_L5V exm1003138 12 51681903 [T/C] NM_016293 BIN2 EXON Missense_N529D exm1003139 12 51681939 [T/C] NM_016293 BIN2 EXON Missense_E517K exm1003150 12 51685681 [A/C] NM_016293 BIN2 EXON Missense_K403N exm1003151 12 51685707 [T/C] NM_016293 BIN2 EXON Missense_S395G exm1003154 12 51685716 [A/G] NM_016293 BIN2 EXON Missense_R392C exm1003155 12 51685719 [T/C] NM_016293 BIN2 EXON Missense_T391A exm1003163 12 51685860 [T/C] NM_016293 BIN2 EXON Missense_A344T exm1003176 12 51689611 [A/T] NM_016293 BIN2 EXON Missense_N244Y exm1003179 12 51690946 [T/C] NM_016293 BIN2 EXON Missense_R202H exm1003181 12 51693021 [T/C] NM_016293 BIN2 EXON Missense_E190K exm1003189 12 51695839 [T/C] NM_016293 BIN2 EXON Missense_M125V exm1003197 12 51696510 [G/C] NM_016293 BIN2 EXON Missense_S91T exm1003198 12 51696879 [C/G] NM_016293 BIN2 EXON Missense_A70G exm1003199 12 51707626 [T/C] NM_016293 BIN2 EXON Missense_S48N exm1003211 12 51722363 [A/G] NM_001971 CELA1 EXON Missense_X259R exm1003212 12 51722372 [T/C] NM_001971 CELA1 EXON Missense_A256T exm1003217 12 51723468 [A/G] NM_001971 CELA1 EXON Synonymous_N253N exm1003221 12 51723499 [T/C] NM_001971 CELA1 EXON Missense_Q243R exm1003222 12 51723512 [T/C] NM_001971 CELA1 EXON Missense_T239A exm1003224 12 51723584 [T/C] NM_001971 CELA1 EXON Missense_N215D exm1003248 12 51736420 [A/G] NM_001971 CELA1 EXON Missense_Y89H exm1003249 12 51736468 [T/C] NM_001971 CELA1 EXON Missense_V73M exm1003254 12 51737562 [T/C] NM_001971 CELA1 EXON Missense_M59V exm1003257 12 51737607 [A/G] NM_001971 CELA1 EXON Missense_R44W exm1003259 12 51739602 [T/C] NM_001971 CELA1 EXON Missense_G26R exm1003262 12 51739625 [T/C] NM_001971 CELA1 EXON Missense_R18H exm1003264 12 51739648 [G/C] NM_001971 CELA1 EXON Missense_Q10H exm2220650 12 51745834 [T/C] NM_007210 GALNT6 EXON Silent exm2251032 12 51749641 [A/G] NM_007210 GALNT6 EXON Synonymous_F568F exm1003316 12 51752021 [A/G] NM_007210 GALNT6 EXON Nonsense_R465X exm1003319 12 51752995 [T/C] NM_007210 GALNT6 EXON Missense_R430H exm1003329 12 51754506 [T/C] NM_007210 GALNT6 EXON Missense_R389Q exm1003333 12 51754545 [A/C] NM_007210 GALNT6 EXON Missense_M376R exm1003339 12 51757995 [T/C] NM_007210 GALNT6 EXON Missense_R320Q exm1003340 12 51758011 [T/C] NM_007210 GALNT6 EXON Missense_G315S exm1003341 12 51758029 [T/C] NM_007210 GALNT6 EXON Missense_A309T exm1003367 12 51771119 [T/G] NM_007210 GALNT6 EXON Missense_P175Q exm1003373 12 51773120 [T/C] NM_007210 GALNT6 EXON Missense_R149Q exm1003376 12 51773152 [G/C] NM_007210 GALNT6 EXON Missense_K138N exm1003378 12 51773222 [T/G] NM_007210 GALNT6 EXON Missense_A115E exm1003381 12 51773253 [A/G] NM_007210 GALNT6 EXON Missense_R105W exm1003384 12 51773343 [T/C] NM_007210 GALNT6 EXON Missense_A75T exm1003386 12 51773409 [T/C] NM_007210 GALNT6 EXON Missense_V53I exm1003394 12 51773471 [T/C] NM_007210 GALNT6 EXON Missense_S32N exm1003441 12 51856227 [A/G] NM_001267615,NM_001258401,NM_001039960,NM_001258402,NM_001258403 SLC4A8,SLC4A8,SLC4A8,SLC4A8,SLC4A8 EXON Missense_N359S,Missense_N359S,Missense_N412S,Missense_N412S,Missense_N359S exm1003460 12 51868193 [A/G] NM_001267615,NM_001258401,NM_001039960,NM_001258402,NM_001258403 SLC4A8,SLC4A8,SLC4A8,SLC4A8,SLC4A8 EXON Missense_V605M,Missense_V605M,Missense_V658M,Missense_V658M,Missense_V605M exm1003470 12 51868968 [C/G] NM_001258401,NM_001039960,NM_001258403 SLC4A8,SLC4A8,SLC4A8 EXON Missense_T664R,Missense_T717R,Missense_T664R exm1003479 12 51882535 [C/G] NM_001258401,NM_001039960 SLC4A8,SLC4A8 EXON Missense_W727S,Missense_W780S exm1003488 12 51883727 [A/G] NM_001258401,NM_001039960 SLC4A8,SLC4A8 EXON Missense_I845V,Missense_I898V exm1003509 12 51890960 [T/C] NM_001258401,NM_001039960 SLC4A8,SLC4A8 Silent,Silent exm2267350 12 51901390 [A/G] NM_001258401,NM_001039960 SLC4A8,SLC4A8 EXON Silent,Silent exm1776045 12 52100288 [A/G] NM_001177984,NM_014191 SCN8A,SCN8A EXON Missense_R475Q,Missense_R475Q exm1003555 12 52115545 [A/C] NM_001177984,NM_014191 SCN8A,SCN8A EXON Nonsense_Y617X,Nonsense_Y617X exm1776057 12 52139786 [T/A] NM_001177984,NM_014191 SCN8A,SCN8A EXON Missense_I700L,Missense_I700L exm1003575 12 52162823 [T/C] NM_001177984,NM_014191 SCN8A,SCN8A EXON Missense_R1026C,Missense_R1026C exm1003576 12 52162895 [A/G] NM_001177984,NM_014191 SCN8A,SCN8A EXON Missense_G1050S,Missense_G1050S exm1003610 12 52188173 [A/G] NM_001177984,NM_014191 SCN8A,SCN8A EXON Missense_V1474I,Missense_V1515I exm1003615 12 52188378 [T/C] NM_001177984,NM_014191 SCN8A,SCN8A EXON Missense_I1542T,Missense_I1583T exm1003670 12 52215102 [T/G] NM_001013690 FIGNL2 EXON Missense_T366P exm1003695 12 52215962 [A/G] NM_001013690 FIGNL2 EXON Missense_A79V exm-rs17126180 12 52263956 [C/G] exm1003712 12 52282047 [T/G] NM_182608,NM_001130015 ANKRD33,ANKRD33 EXON Missense_V26G,Silent exm2251034 12 52282078 [C/G] NM_182608,NM_001130015 ANKRD33,ANKRD33 EXON Synonymous_P36P,Silent exm1003720 12 52282429 [T/C] NM_182608,NM_001130015 ANKRD33,ANKRD33 EXON Missense_R75W,Silent exm1003723 12 52282460 [T/C] NM_182608,NM_001130015 ANKRD33,ANKRD33 EXON Missense_P85L,Silent exm1003733 12 52282866 [A/G] NM_182608,NM_001130015 ANKRD33,ANKRD33 EXON Missense_A138T,Missense_A3T exm1003743 12 52282963 [T/C] NM_182608,NM_001130015 ANKRD33,ANKRD33 EXON Missense_M170T,Missense_M35T exm1003747 12 52283225 [A/G] NM_182608,NM_001130015 ANKRD33,ANKRD33 EXON Missense_R199Q,Missense_R64Q exm1003749 12 52283249 [T/C] NM_182608,NM_001130015 ANKRD33,ANKRD33 EXON Missense_A207V,Missense_A72V exm1003757 12 52284442 [A/G] NM_182608,NM_001130015 ANKRD33,ANKRD33 EXON Missense_D238N,Missense_D113N exm1003759 12 52284475 [T/C] NM_182608,NM_001130015 ANKRD33,ANKRD33 EXON Missense_R249W,Missense_R124W exm1003765 12 52284521 [T/C] NM_182608,NM_001130015 ANKRD33,ANKRD33 EXON Missense_P264L,Missense_P139L exm1003769 12 52284538 [A/G] NM_182608,NM_001130015 ANKRD33,ANKRD33 EXON Missense_V270M,Missense_V145M exm1003770 12 52284586 [T/C] NM_182608,NM_001130015 ANKRD33,ANKRD33 EXON Missense_R286W,Missense_R161W exm1003771 12 52284620 [T/C] NM_182608,NM_001130015 ANKRD33,ANKRD33 EXON Missense_P297L,Missense_P172L exm1003772 12 52284668 [A/C] NM_182608,NM_001130015 ANKRD33,ANKRD33 EXON Missense_T313N,Missense_T188N exm1003785 12 52284879 [A/C] NM_182608,NM_001130015 ANKRD33,ANKRD33 EXON Nonsense_C383X,Silent exm1003786 12 52284892 [A/C] NM_182608,NM_001130015 ANKRD33,ANKRD33 EXON Missense_Q388K,Silent exm1003788 12 52284914 [G/C] NM_182608,NM_001130015 ANKRD33,ANKRD33 EXON Missense_P395R,Silent exm1776126 12 52285024 [T/C] NM_182608,NM_001130015 ANKRD33,ANKRD33 EXON Nonsense_R432X,Missense_A240V exm1003793 12 52285052 [A/G] NM_182608,NM_001130015 ANKRD33,ANKRD33 EXON Missense_R441K,Synonymous_E249E exm1776138 12 52306898 [T/C] NM_000020,NM_001077401 ACVRL1,ACVRL1 EXON Missense_P26L,Missense_P26L exm1003809 12 52306909 [T/C] NM_000020,NM_001077401 ACVRL1,ACVRL1 EXON Missense_P30S,Missense_P30S exm1003824 12 52307513 [T/C] NM_000020,NM_001077401 ACVRL1,ACVRL1 EXON Missense_L162F,Missense_L162F exm1003842 12 52309126 [A/G] NM_000020,NM_001077401 ACVRL1,ACVRL1 EXON Missense_H297R,Missense_H297R exm1003843 12 52309153 [T/C] NM_000020,NM_001077401 ACVRL1,ACVRL1 EXON Missense_A306V,Missense_A306V exm1003869 12 52312870 [A/G] NM_000020,NM_001077401 ACVRL1,ACVRL1 EXON Missense_T450A,Missense_T450A exm1003874 12 52314610 [T/C] NM_000020,NM_001077401 ACVRL1,ACVRL1 EXON Missense_A482V,Missense_A482V exm-rs10783486 12 52362786 [A/G] NM_004302,NM_020328,NM_020327 ACVR1B,ACVR1B,ACVR1B Silent,Silent,Silent exm1003890 12 52370150 [T/C] NM_004302,NM_020328,NM_020327 ACVR1B,ACVR1B,ACVR1B EXON Missense_P124L,Missense_P124L,Missense_P72L exm1003919 12 52385751 [A/G] NM_004302,NM_020328,NM_020327 ACVR1B,ACVR1B,ACVR1B EXON Missense_I456V,Missense_I497V,Missense_I404V exm1003936 12 52402998 [T/C] NM_181711 GRASP EXON Missense_L91F exm1003972 12 52408888 [G/C] NM_181711,NM_001271856 GRASP,GRASP EXON Missense_L365V,Missense_L222V exm1003991 12 52448348 [A/C] NM_001202233,NM_173157,NM_002135 NR4A1,NR4A1,NR4A1 EXON Missense_S92Y,Missense_S79Y,Missense_S79Y exm1004009 12 52448668 [T/C] NM_001202233,NM_173157,NM_002135 NR4A1,NR4A1,NR4A1 EXON Missense_P199S,Missense_P186S,Missense_P186S exm1004019 12 52448861 [T/C] NM_001202233,NM_173157,NM_002135 NR4A1,NR4A1,NR4A1 EXON Missense_V263A,Missense_V250A,Missense_V250A exm1004022 12 52448884 [A/G] NM_001202233,NM_173157,NM_002135 NR4A1,NR4A1,NR4A1 EXON Missense_G271R,Missense_G258R,Missense_G258R exm1004032 12 52449923 [T/C] NM_001202233,NM_173157,NM_002135 NR4A1,NR4A1,NR4A1 EXON Missense_A342V,Missense_A329V,Missense_A329V exm1004037 12 52450380 [A/G] NM_001202233,NM_173157,NM_002135 NR4A1,NR4A1,NR4A1 EXON Missense_R383H,Missense_R370H,Missense_R370H exm1004046 12 52450935 [A/G] NM_001202233,NM_173157,NM_002135 NR4A1,NR4A1,NR4A1 EXON Missense_R431H,Missense_R418H,Missense_R418H exm1004048 12 52450938 [A/G] NM_001202233,NM_173157,NM_002135 NR4A1,NR4A1,NR4A1 EXON Missense_K432R,Missense_K419R,Missense_K419R exm1004050 12 52450977 [T/C] NM_001202233,NM_173157,NM_002135 NR4A1,NR4A1,NR4A1 EXON Missense_P445L,Missense_P432L,Missense_P432L exm1004056 12 52451203 [T/C] NM_001202233,NM_173157,NM_002135 NR4A1,NR4A1,NR4A1 EXON Missense_R490C,Missense_R477C,Missense_R477C exm1004062 12 52452495 [T/C] NM_001202233,NM_173157,NM_002135 NR4A1,NR4A1,NR4A1 EXON Missense_R535W,Missense_R522W,Missense_R522W exm1004072 12 52452619 [A/G] NM_001202233,NM_173157,NM_002135 NR4A1,NR4A1,NR4A1 EXON Missense_R576Q,Missense_R563Q,Missense_R563Q exm1004107 12 52470865 [A/G] NM_021934,NM_001098673 C12orf44,C12orf44 EXON Missense_R183Q,Missense_R183Q exm2271843 12 52532208 [T/C] exm1004121 12 52565198 [A/G] NM_001081492,NM_182507 KRT80,KRT80 EXON Silent,Missense_S448L exm1004123 12 52565207 [A/G] NM_001081492,NM_182507 KRT80,KRT80 EXON Silent,Missense_S445L exm2220669 12 52565210 [A/C] NM_001081492,NM_182507 KRT80,KRT80 EXON Silent,Missense_F444C exm1776260 12 52565270 [T/C] NM_001081492,NM_182507 KRT80,KRT80 EXON Silent,Missense_R424Q exm1776272 12 52566851 [A/G] NM_001081492,NM_182507 KRT80,KRT80 EXON Missense_R310W,Missense_R310W exm1004150 12 52566882 [G/C] NM_001081492,NM_182507 KRT80,KRT80 EXON Missense_I299M,Missense_I299M exm1004157 12 52567404 [T/C] NM_001081492,NM_182507 KRT80,KRT80 EXON Missense_E271K,Missense_E271K exm2220670 12 52567425 [C/G] NM_001081492,NM_182507 KRT80,KRT80 EXON Missense_A264P,Missense_A264P exm1004162 12 52567434 [T/C] NM_001081492,NM_182507 KRT80,KRT80 EXON Missense_A261T,Missense_A261T exm1004164 12 52567467 [T/C] NM_001081492,NM_182507 KRT80,KRT80 EXON Missense_G250S,Missense_G250S exm1004166 12 52567488 [A/G] NM_001081492,NM_182507 KRT80,KRT80 EXON Missense_R243C,Missense_R243C exm1004167 12 52567503 [T/C] NM_001081492,NM_182507 KRT80,KRT80 EXON Missense_V238I,Missense_V238I exm1004168 12 52567527 [C/G] NM_001081492,NM_182507 KRT80,KRT80 EXON Missense_Q230E,Missense_Q230E exm1004170 12 52574326 [T/C] NM_001081492,NM_182507 KRT80,KRT80 EXON Missense_V213M,Missense_V213M exm1004178 12 52574730 [A/G] NM_001081492,NM_182507 KRT80,KRT80 EXON Missense_S176F,Missense_S176F exm1004179 12 52574733 [A/G] NM_001081492,NM_182507 KRT80,KRT80 EXON Missense_I175T,Missense_I175T exm1004186 12 52579242 [A/G] NM_001081492,NM_182507 KRT80,KRT80 EXON Missense_R144C,Missense_R144C exm1004189 12 52579287 [T/C] NM_001081492,NM_182507 KRT80,KRT80 EXON Missense_G129R,Missense_G129R exm1004195 12 52579331 [T/C] NM_001081492,NM_182507 KRT80,KRT80 EXON Missense_R114H,Missense_R114H exm1004207 12 52585500 [T/C] NM_001081492,NM_182507 KRT80,KRT80 EXON Missense_G63S,Missense_G63S exm1004208 12 52585524 [T/C] NM_001081492,NM_182507 KRT80,KRT80 EXON Missense_I55V,Missense_I55V exm1004214 12 52585677 [A/G] NM_001081492,NM_182507 KRT80,KRT80 EXON Missense_R4C,Missense_R4C exm2251037 12 52594827 [T/C] exm1776303 12 52629029 [A/G] NM_005556 KRT7 EXON Missense_D139N exm1004239 12 52629060 [A/G] NM_005556 KRT7 EXON Missense_R149Q exm1776310 12 52631312 [T/C] NM_005556 KRT7 EXON Missense_H186Y exm1004250 12 52631313 [A/G] NM_005556 KRT7 EXON Missense_H186R exm1004252 12 52632482 [A/G] NM_005556 KRT7 EXON Missense_M206V exm1004274 12 52636874 [T/C] NM_005556 KRT7 EXON Missense_R313W exm1004277 12 52639235 [T/C] NM_005556 KRT7 EXON Missense_R342C exm1004302 12 52642426 [T/C] NM_005556 KRT7 EXON Missense_T431I exm1004309 12 52642525 [A/G] NM_005556 KRT7 EXON Missense_R464H exm1004323 12 52680049 [T/C] NM_002281 KRT81 EXON Missense_R503Q exm1004325 12 52680104 [T/C] NM_002281 KRT81 EXON Missense_V485M exm1004331 12 52680172 [A/G] NM_002281 KRT81 EXON Missense_A462V exm1004333 12 52680190 [A/G] NM_002281 KRT81 EXON Missense_P456L exm1004335 12 52680194 [A/C] NM_002281 KRT81 EXON Missense_A455S exm1004351 12 52681088 [T/C] NM_002281 KRT81 EXON Missense_A349T exm1004374 12 52681841 [T/G] NM_002281 KRT81 EXON Missense_A276D exm1004380 12 52681908 [T/C] NM_002281 KRT81 EXON Missense_I254V exm1004414 12 52685213 [T/G] NM_002281 KRT81 EXON Missense_S13R exm1004415 12 52685249 [T/G] NM_002281 KRT81 EXON Missense_M1L exm1004500 12 52700040 [A/G] NM_002284 KRT86 EXON Missense_R408H exm1004519 12 52708420 [A/G] NM_002282 KRT83 EXON Missense_H493Y exm1004523 12 52708485 [T/C] NM_002282 KRT83 EXON Missense_G471D exm1004534 12 52709122 [C/G] NM_002282 KRT83 EXON Missense_C423S exm1004559 12 52710643 [T/C] NM_002282 KRT83 EXON Synonymous_K305K exm1004566 12 52710721 [G/C] NM_002282 KRT83 EXON Missense_I279M exm1004575 12 52710798 [T/C] NM_002282 KRT83 EXON Missense_I254V exm1776414 12 52711539 [A/G] NM_002282 KRT83 EXON Missense_R226C exm1004589 12 52711747 [A/C] NM_002282 KRT83 EXON Nonsense_E201X exm1004590 12 52711756 [T/G] NM_002282 KRT83 Silent exm1004603 12 52713088 [A/G] NM_002282 KRT83 EXON Missense_R149C exm1004607 12 52713144 [T/C] NM_002282 KRT83 EXON Missense_R130H exm1004630 12 52715047 [A/G] NM_002282 KRT83 EXON Missense_P25S exm1004632 12 52715053 [A/C] NM_002282 KRT83 EXON Missense_C23G exm1004634 12 52715082 [A/C] NM_002282 KRT83 EXON Missense_R13L exm2220681 12 52754686 [A/C] NM_002283 KRT85 EXON Missense_R492L exm1004645 12 52754725 [A/G] NM_002283 KRT85 EXON Missense_T479M exm1004646 12 52754735 [T/C] NM_002283 KRT85 EXON Missense_G476S exm1004647 12 52754768 [A/G] NM_002283 KRT85 EXON Missense_R465C exm1004650 12 52755268 [A/G] NM_002283 KRT85 EXON Missense_V438A exm1004681 12 52757187 [T/C] NM_002283 KRT85 EXON Missense_R265H exm1004688 12 52757925 [T/C] NM_002283 KRT85 EXON Missense_R238Q exm1004690 12 52757938 [A/C] NM_002283 KRT85 EXON Missense_C234G exm1004696 12 52758101 [T/C] NM_002283 KRT85 EXON Missense_V227I exm1004708 12 52758819 [T/C] NM_002283 KRT85 EXON Missense_V186M exm1004712 12 52758850 [T/G] NM_002283 KRT85 EXON Nonsense_Y175X exm1004716 12 52758953 [A/C] NM_002283 KRT85 EXON Missense_V141G exm1004731 12 52760978 [A/G] NM_002283 KRT85 EXON Missense_F71S exm1004745 12 52761153 [G/C] NM_002283 KRT85 EXON Missense_G13R exm1776459 12 52761156 [A/G] NM_002283 KRT85 EXON Missense_C12R exm1004754 12 52771933 [T/A] NM_033045 KRT84 EXON Missense_V563D exm1004757 12 52772018 [T/C] NM_033045 KRT84 EXON Missense_G535S exm1004766 12 52774147 [T/C] NM_033045 KRT84 EXON Missense_R475Q exm1004767 12 52774153 [T/C] NM_033045 KRT84 EXON Missense_E473G exm1004782 12 52774334 [T/C] NM_033045 KRT84 EXON Missense_E413K exm1004801 12 52775246 [A/G] NM_033045 KRT84 EXON Missense_R326C exm1004807 12 52776234 [A/G] NM_033045 KRT84 EXON Missense_T300M exm1004814 12 52777428 [T/C] NM_033045 KRT84 EXON Missense_R234Q exm1004815 12 52777429 [A/G] NM_033045 KRT84 EXON Missense_R234W exm1004821 12 52777513 [T/C] NM_033045 KRT84 EXON Missense_I206V exm1004822 12 52777536 [T/C] NM_033045 KRT84 EXON Missense_S198N exm1004824 12 52777578 [T/C] NM_033045 KRT84 EXON Missense_R184Q exm2251040 12 52777580 [A/C] NM_033045 KRT84 EXON Synonymous_V183V exm1004829 12 52778829 [A/C] NM_033045 KRT84 EXON Missense_D181Y exm1004834 12 52779003 [A/C] NM_033045 KRT84 EXON Missense_G123C exm1004835 12 52779006 [A/C] NM_033045 KRT84 EXON Missense_F122V exm1004836 12 52779008 [T/C] NM_033045 KRT84 EXON Missense_G121D exm1004841 12 52779113 [A/C] NM_033045 KRT84 EXON Missense_G86V exm1004843 12 52779155 [T/G] NM_033045 KRT84 EXON Missense_P72H exm1004845 12 52779159 [A/G] NM_033045 KRT84 EXON Missense_R71W exm1776505 12 52779183 [A/G] NM_033045 KRT84 EXON Missense_P63S exm1004846 12 52779189 [A/G] NM_033045 KRT84 EXON Missense_Y61H exm1004847 12 52779209 [T/C] NM_033045 KRT84 EXON Missense_S54N exm1004856 12 52779332 [T/C] NM_033045 KRT84 EXON Missense_R13Q exm1776509 12 52779350 [A/C] NM_033045 KRT84 EXON Missense_R7L exm1004857 12 52779351 [A/G] NM_033045 KRT84 EXON Nonsense_R7X exm1004858 12 52779360 [A/G] NM_033045 KRT84 EXON Missense_R4C exm1004867 12 52788814 [T/C] NM_033033 KRT82 EXON Missense_R496Q exm1004873 12 52788878 [T/C] NM_033033 KRT82 EXON Missense_V475M exm1004876 12 52788928 [A/G] NM_033033 KRT82 EXON Missense_T458M exm1004877 12 52788945 [G/C] NM_033033 KRT82 EXON Missense_E452D exm1004884 12 52789552 [T/C] NM_033033 KRT82 EXON Missense_V438M exm2276244 12 52789558 [A/C] NM_033033 KRT82 EXON Missense_G436W exm1004888 12 52789795 [T/C] NM_033033 KRT82 Silent exm1004901 12 52789967 [A/G] NM_033033 KRT82 EXON Missense_A373V exm1004906 12 52790684 [T/C] NM_033033 KRT82 EXON Missense_E351K exm1004911 12 52790747 [A/G] NM_033033 KRT82 EXON Missense_R330C exm1004914 12 52793770 [T/C] NM_033033 KRT82 EXON Missense_R314Q exm1004915 12 52793771 [A/G] NM_033033 KRT82 EXON Missense_R314W exm1004916 12 52793779 [T/C] NM_033033 KRT82 EXON Missense_Y311C exm1004918 12 52793806 [T/C] NM_033033 KRT82 EXON Missense_R302H exm1004923 12 52793830 [A/G] NM_033033 KRT82 EXON Missense_A294V exm1004925 12 52793852 [T/C] NM_033033 KRT82 EXON Missense_G287S exm1004941 12 52795099 [G/C] NM_033033 KRT82 EXON Missense_E219Q exm1004949 12 52797546 [A/G] NM_033033 KRT82 EXON Missense_R187C exm1004956 12 52797617 [A/G] NM_033033 KRT82 EXON Missense_T163I exm1004958 12 52797689 [T/C] NM_033033 KRT82 EXON Missense_R139H exm1004963 12 52799675 [T/G] NM_033033 KRT82 EXON Missense_N129K exm1004964 12 52799695 [A/G] NM_033033 KRT82 EXON Nonsense_Q123X exm1004971 12 52799782 [A/G] NM_033033 KRT82 EXON Missense_P94S exm1004972 12 52799788 [T/C] NM_033033 KRT82 EXON Missense_I92V exm1004973 12 52799796 [T/G] NM_033033 KRT82 EXON Missense_S89Y exm1004974 12 52799799 [A/G] NM_033033 KRT82 EXON Missense_P88L exm1004981 12 52799884 [T/C] NM_033033 KRT82 EXON Missense_V60M exm1004982 12 52799922 [T/C] NM_033033 KRT82 EXON Missense_R47Q exm1004987 12 52799985 [T/C] NM_033033 KRT82 EXON Missense_R26Q exm1004988 12 52799986 [A/G] NM_033033 KRT82 EXON Missense_R26W exm1004994 12 52818377 [T/C] NM_004693 KRT75 EXON Missense_R527Q exm1004996 12 52818419 [T/C] NM_004693 KRT75 EXON Missense_G513D exm1005001 12 52818456 [T/C] NM_004693 KRT75 EXON Missense_G501S exm1005005 12 52818501 [T/C] NM_004693 KRT75 EXON Missense_G486S exm1005008 12 52820635 [T/C] NM_004693 KRT75 EXON Synonymous_R461R exm1005012 12 52822050 [T/C] NM_004693 KRT75 EXON Missense_E458K exm1005021 12 52822156 [G/C] NM_004693 KRT75 EXON Missense_K422N exm1005023 12 52822193 [T/C] NM_004693 KRT75 EXON Missense_R410Q exm2220694 12 52822448 [T/C] NM_004693 KRT75 EXON Missense_R372H exm1005034 12 52822464 [T/C] NM_004693 KRT75 EXON Missense_I367V exm1005036 12 52822482 [A/G] NM_004693 KRT75 EXON Nonsense_R361X exm1005037 12 52822506 [T/C] NM_004693 KRT75 EXON Missense_A353T exm1005040 12 52824351 [T/C] NM_004693 KRT75 EXON Missense_E337K exm1005042 12 52824357 [A/G] NM_004693 KRT75 EXON Missense_R335W exm1005043 12 52824362 [T/C] NM_004693 KRT75 EXON Missense_R333H exm1005046 12 52824396 [T/C] NM_004693 KRT75 EXON Missense_E322K exm1005051 12 52824425 [T/C] NM_004693 KRT75 EXON Missense_R312H exm1005064 12 52825839 [T/C] NM_004693 KRT75 EXON Missense_E242G exm1005065 12 52825846 [T/C] NM_004693 KRT75 EXON Missense_E240K exm1005068 12 52826909 [T/C] NM_004693 KRT75 EXON Missense_R209Q exm1005075 12 52827608 [T/C] NM_004693 KRT75 EXON Missense_A161T exm1005082 12 52827659 [A/G] NM_004693 KRT75 EXON Missense_R144W exm1005087 12 52827776 [T/C] NM_004693 KRT75 EXON Missense_G105R exm1005090 12 52827818 [T/C] NM_004693 KRT75 EXON Missense_R91G exm1005092 12 52827847 [T/C] NM_004693 KRT75 EXON Missense_R81Q exm1005094 12 52827853 [T/C] NM_004693 KRT75 EXON Missense_S79N exm1005101 12 52828003 [T/C] NM_004693 KRT75 EXON Missense_R29H exm1005102 12 52828004 [A/G] NM_004693 KRT75 EXON Missense_R29C exm1005104 12 52828019 [T/C] NM_004693 KRT75 EXON Missense_T24A exm1005107 12 52828048 [T/C] NM_004693 KRT75 EXON Missense_R14H exm1005117 12 52841075 [T/C] NM_005555 KRT6B EXON Missense_G532S exm1005159 12 52842631 [T/C] NM_005555 KRT6B EXON Missense_K400E exm2251042 12 52863032 [A/G] NM_173086 KRT6C EXON Synonymous_V503V exm1005321 12 52865071 [A/G] NM_173086 KRT6C EXON Nonsense_Q308X exm1005337 12 52865517 [C/G] NM_173086 KRT6C Silent exm1005396 12 52881524 [T/C] NM_005554 KRT6A EXON Missense_R559G exm1005397 12 52881544 [G/C] NM_005554 KRT6A EXON Missense_T552S exm1005421 12 52882313 [A/G] NM_005554 KRT6A EXON Missense_A408V exm1005425 12 52883732 [T/G] NM_005554 KRT6A EXON Missense_K400Q exm1005452 12 52885316 [A/G] NM_005554 KRT6A EXON Missense_F249L exm1005453 12 52885339 [T/C] NM_005554 KRT6A EXON Missense_G241D exm1005454 12 52885340 [T/C] NM_005554 KRT6A EXON Missense_G241S exm1776696 12 52885381 [T/C] NM_005554 KRT6A EXON Missense_S227N exm1776700 12 52886513 [A/G] NM_005554 KRT6A EXON Missense_P154S exm2267351 12 52906586 [A/G] exm1005505 12 52908794 [T/C] NM_000424 KRT5 EXON Missense_G569R exm1005511 12 52908872 [T/C] NM_000424 KRT5 EXON Missense_G543S exm1005515 12 52908884 [T/C] NM_000424 KRT5 EXON Missense_G539S exm1005516 12 52908917 [T/C] NM_000424 KRT5 EXON Missense_S528G exm1005519 12 52908944 [T/C] NM_000424 KRT5 EXON Missense_G519S exm1005522 12 52908962 [T/C] NM_000424 KRT5 EXON Missense_G513S exm1005525 12 52909004 [A/G] NM_000424 KRT5 EXON Missense_S499P exm1005536 12 52910601 [T/C] NM_000424 KRT5 EXON Missense_R420H exm1005544 12 52910988 [T/C] NM_000424 KRT5 EXON Missense_R374Q exm1005558 12 52911701 [A/T] NM_000424 KRT5 EXON Missense_M303L exm1005586 12 52913668 [T/C] NM_000424 KRT5 EXON Missense_G138E exm1005595 12 52913723 [T/C] NM_000424 KRT5 EXON Missense_G120R exm1005599 12 52913759 [T/C] NM_000424 KRT5 EXON Missense_G108S exm1005601 12 52913801 [T/C] NM_000424 KRT5 EXON Missense_G94S exm1005604 12 52913822 [A/C] NM_000424 KRT5 EXON Missense_F87V exm1005630 12 52938320 [T/C] NM_033448 KRT71 EXON Missense_R523Q exm1005631 12 52938321 [A/G] NM_033448 KRT71 EXON Missense_R523W exm1005632 12 52938347 [A/G] NM_033448 KRT71 EXON Missense_L514P exm1776747 12 52938382 [A/G] NM_033448 KRT71 EXON Synonymous_N502N exm1005636 12 52938411 [T/C] NM_033448 KRT71 EXON Missense_G493R exm1005638 12 52938428 [T/A] NM_033448 KRT71 EXON Missense_V487E exm1005640 12 52938474 [A/C] NM_033448 KRT71 EXON Missense_V472F exm1005644 12 52938497 [A/C] NM_033448 KRT71 EXON Missense_V464G exm1005645 12 52938512 [G/C] NM_033448 KRT71 EXON Missense_T459S exm1005665 12 52940251 [A/G] NM_033448 KRT71 EXON Missense_R382W exm1005673 12 52941682 [A/T] NM_033448 KRT71 EXON Missense_I355F exm1005675 12 52941699 [A/G] NM_033448 KRT71 EXON Missense_S349L exm1005677 12 52941728 [A/G] NM_033448 KRT71 EXON Synonymous_D339D exm1776763 12 52942010 [T/C] NM_033448 KRT71 EXON Missense_D302N exm1005687 12 52942061 [T/C] NM_033448 KRT71 EXON Missense_V285I exm1005700 12 52943819 [T/C] NM_033448 KRT71 EXON Missense_K217R exm1005701 12 52943835 [T/C] NM_033448 KRT71 EXON Missense_V212I exm1005717 12 52946498 [T/C] NM_033448 KRT71 EXON Missense_E122K exm1005719 12 52946510 [T/C] NM_033448 KRT71 EXON Missense_E118K exm1005722 12 52946543 [T/C] NM_033448 KRT71 EXON Missense_V107I exm1005727 12 52946594 [T/C] NM_033448 KRT71 EXON Missense_G90R exm-IND12-51232970 12 52946704 [D/I] NM_033448 KRT71 EXON exm2220702 12 52946717 [A/G] NM_033448 KRT71 EXON Missense_Y49H exm1005733 12 52946738 [T/C] NM_033448 KRT71 EXON Missense_G42S exm1005736 12 52946825 [T/C] NM_033448 KRT71 EXON Missense_A13T exm1005742 12 52960800 [G/C] NM_175053 KRT74 EXON Missense_G515R exm1005744 12 52960823 [A/C] NM_175053 KRT74 EXON Missense_G507V exm2220703 12 52960829 [A/G] NM_175053 KRT74 EXON Missense_A505V exm1005750 12 52960884 [T/C] NM_175053 KRT74 EXON Missense_A487T exm1005753 12 52960917 [A/G] NM_175053 KRT74 EXON Missense_P476S exm1005756 12 52960934 [A/C] NM_175053 KRT74 EXON Missense_S470I exm1005780 12 52962167 [T/C] NM_175053 KRT74 EXON Missense_S381G exm1005781 12 52962172 [A/C] NM_175053 KRT74 EXON Missense_R379L exm1005782 12 52963643 [T/C] NM_175053 KRT74 EXON Synonymous_Q378Q exm1005783 12 52963660 [G/C] NM_175053 KRT74 EXON Missense_G373R exm1005785 12 52963663 [T/C] NM_175053 KRT74 EXON Missense_I372V exm1005786 12 52963690 [A/G] NM_175053 KRT74 EXON Missense_R363W exm1005787 12 52963702 [T/C] NM_175053 KRT74 EXON Missense_V359M exm1005789 12 52963740 [T/C] NM_175053 KRT74 EXON Missense_R346Q exm1005790 12 52963741 [A/G] NM_175053 KRT74 EXON Missense_R346W exm1776803 12 52964608 [A/G] NM_175053 KRT74 EXON Nonsense_Q285X exm1005806 12 52964611 [T/C] NM_175053 KRT74 EXON Missense_A284T exm1005808 12 52965165 [A/G] NM_175053 KRT74 EXON Missense_F274S exm1005809 12 52965173 [T/G] NM_175053 KRT74 EXON Missense_E271D exm1005811 12 52965240 [T/C] NM_175053 KRT74 Silent exm1005813 12 52965744 [A/G] NM_175053 KRT74 EXON Missense_F244S exm1005818 12 52966249 [A/T] NM_175053 KRT74 EXON Missense_D225V exm1005831 12 52966428 [G/C] NM_175053 KRT74 EXON Missense_N165K exm1005837 12 52967140 [T/C] NM_175053 KRT74 EXON Missense_R141Q exm1005843 12 52967239 [A/G] NM_175053 KRT74 EXON Missense_P108L exm1005846 12 52967264 [T/C] NM_175053 KRT74 EXON Missense_G100R exm1005850 12 52967342 [G/C] NM_175053 KRT74 EXON Missense_G74R exm1005852 12 52967357 [A/G] NM_175053 KRT74 EXON Missense_R69W exm1005856 12 52967368 [C/G] NM_175053 KRT74 EXON Missense_G65A exm1005863 12 52967435 [T/C] NM_175053 KRT74 EXON Missense_A43T exm1005866 12 52967554 [T/C] NM_175053 KRT74 EXON Missense_R3Q exm1005873 12 52979803 [A/G] NM_001146226,NM_080747,NM_001146225 KRT72,KRT72,KRT72 EXON Missense_S458L,Missense_S500L,Missense_S500L exm1005877 12 52979866 [A/G] NM_001146226,NM_080747,NM_001146225 KRT72,KRT72,KRT72 EXON Missense_A437V,Missense_A479V,Missense_A479V exm1005880 12 52979897 [T/C] NM_001146226,NM_080747,NM_001146225 KRT72,KRT72,KRT72 EXON Missense_A427T,Missense_A469T,Missense_A469T exm1776834 12 52979929 [A/G] NM_001146226,NM_080747,NM_001146225 KRT72,KRT72,KRT72 EXON Missense_A416V,Missense_A458V,Missense_A458V exm1005910 12 52984620 [T/C] NM_001146226,NM_080747,NM_001146225 KRT72,KRT72,KRT72 EXON Silent,Synonymous_Q363Q,Synonymous_Q363Q exm1005912 12 52984649 [A/G] NM_001146226,NM_080747,NM_001146225 KRT72,KRT72,KRT72 EXON Silent,Missense_R354C,Missense_R354C exm1005915 12 52984712 [A/C] NM_001146226,NM_080747,NM_001146225 KRT72,KRT72,KRT72 EXON Silent,Missense_G333W,Missense_G333W exm1005917 12 52984730 [A/C] NM_001146226,NM_080747,NM_001146225 KRT72,KRT72,KRT72 EXON Silent,Missense_V327F,Missense_V327F exm1005923 12 52985313 [A/G] NM_001146226,NM_080747,NM_001146225 KRT72,KRT72,KRT72 EXON Missense_R300C,Missense_R300C,Missense_R300C exm1005931 12 52985378 [A/G] NM_001146226,NM_080747,NM_001146225 KRT72,KRT72,KRT72 EXON Missense_T278M,Missense_T278M,Missense_T278M exm2220706 12 52985381 [T/C] NM_001146226,NM_080747,NM_001146225 KRT72,KRT72,KRT72 EXON Missense_D277G,Missense_D277G,Missense_D277G exm1005935 12 52986187 [T/C] NM_001146226,NM_080747,NM_001146225 KRT72,KRT72,KRT72 EXON Missense_Y264C,Missense_Y264C,Missense_Y264C exm2220707 12 52986253 [T/C] NM_001146226,NM_080747,NM_001146225 KRT72,KRT72,KRT72 EXON Missense_N242S,Missense_N242S,Missense_N242S exm1005939 12 52986271 [A/G] NM_001146226,NM_080747,NM_001146225 KRT72,KRT72,KRT72 EXON Missense_V236A,Missense_V236A,Missense_V236A exm1005948 12 52986726 [T/C] NM_001146226,NM_080747,NM_001146225 KRT72,KRT72,KRT72 EXON Missense_E218K,Missense_E218K,Missense_E218K exm1005958 12 52992812 [T/C] NM_001146226,NM_080747,NM_001146225 KRT72,KRT72,KRT72 EXON Missense_N171D,Missense_N171D,Missense_N171D exm1005960 12 52992861 [G/C] NM_001146226,NM_080747,NM_001146225 KRT72,KRT72,KRT72 EXON Missense_E154D,Missense_E154D,Missense_E154D exm1005968 12 52994896 [A/G] NM_001146226,NM_080747,NM_001146225 KRT72,KRT72,KRT72 EXON Missense_M114T,Missense_M114T,Missense_M114T exm1005969 12 52994925 [G/C] NM_001146226,NM_080747,NM_001146225 KRT72,KRT72,KRT72 EXON Missense_K104N,Missense_K104N,Missense_K104N exm1776875 12 52995098 [T/C] NM_001146226,NM_080747,NM_001146225 KRT72,KRT72,KRT72 EXON Missense_K47E,Missense_K47E,Missense_K47E exm1005978 12 52995127 [T/C] NM_001146226,NM_080747,NM_001146225 KRT72,KRT72,KRT72 EXON Missense_R37Q,Missense_R37Q,Missense_R37Q exm1005984 12 53002080 [T/C] NM_175068 KRT73 EXON Missense_R508H exm1005985 12 53002081 [A/G] NM_175068 KRT73 EXON Missense_R508C exm1005990 12 53002200 [G/C] NM_175068 KRT73 EXON Missense_T468R exm1005992 12 53002233 [A/G] NM_175068 KRT73 EXON Missense_V457A exm1005998 12 53003058 [T/C] NM_175068 KRT73 EXON Missense_G447R exm1776887 12 53004398 [T/C] NM_175068 KRT73 Silent exm1006010 12 53004486 [T/C] NM_175068 KRT73 EXON Missense_R415H exm1006016 12 53004545 [G/C] NM_175068 KRT73 EXON Missense_K395N exm2276246 12 53004590 [A/G] NM_175068 KRT73 EXON Synonymous_D380D exm1006019 12 53004603 [A/G] NM_175068 KRT73 EXON Missense_T376M exm1006020 12 53004621 [T/C] NM_175068 KRT73 Silent exm1006022 12 53005004 [T/C] NM_175068 KRT73 EXON Missense_E365G exm1006033 12 53007492 [T/C] NM_175068 KRT73 EXON Missense_E322K exm1006040 12 53007606 [T/C] NM_175068 KRT73 EXON Missense_D284N exm1006043 12 53007636 [T/C] NM_175068 KRT73 EXON Missense_E274K exm1006046 12 53008370 [T/C] NM_175068 KRT73 EXON Missense_Y271C exm1006050 12 53008439 [A/G] NM_175068 KRT73 EXON Missense_T248M exm1006054 12 53008455 [T/C] NM_175068 KRT73 EXON Missense_V243M exm1006059 12 53009978 [A/G] NM_175068 KRT73 EXON Missense_R212C exm1006074 12 53011924 [A/G] NM_175068 KRT73 EXON Missense_R129C exm1006076 12 53011978 [T/C] NM_175068 KRT73 EXON Missense_K111E exm1006084 12 53012022 [A/G] NM_175068 KRT73 EXON Missense_P96L exm1006085 12 53012029 [T/C] NM_175068 KRT73 EXON Missense_V94M exm1006090 12 53012085 [T/C] NM_175068 KRT73 EXON Missense_R75Q exm1006093 12 53012128 [T/C] NM_175068 KRT73 EXON Missense_V61M exm1006095 12 53012173 [A/G] NM_175068 KRT73 EXON Missense_R46W exm1006096 12 53012175 [A/C] NM_175068 KRT73 EXON Missense_S45I exm2274591 12 53012302 [A/G] NM_175068 KRT73 EXON Missense_R3C exm-rs589619 12 53036090 [A/G] exm1006115 12 53039003 [T/C] NM_000423 KRT2 EXON Missense_G574R exm1006123 12 53039092 [T/C] NM_000423 KRT2 EXON Missense_R544Q exm1006128 12 53039173 [C/G] NM_000423 KRT2 EXON Missense_A517G exm1006142 12 53040704 [T/C] NM_000423 KRT2 EXON Missense_R430H exm1006146 12 53040720 [T/C] NM_000423 KRT2 EXON Missense_A425T exm1006156 12 53041636 [T/C] NM_000423 KRT2 EXON Missense_E376K exm1776951 12 53042792 [A/G] NM_000423 KRT2 EXON Missense_A319V exm2274592 12 53042808 [T/C] NM_000423 KRT2 EXON Missense_K314E exm1006172 12 53044124 [T/G] NM_000423 KRT2 EXON Missense_K267Q exm1006173 12 53044156 [T/C] NM_000423 KRT2 EXON Missense_N256S exm1006180 12 53044267 [T/C] NM_000423 KRT2 EXON Missense_G219D exm1006182 12 53044334 [G/C] NM_000423 KRT2 EXON Missense_R197G exm1006183 12 53044336 [A/C] NM_000423 KRT2 EXON Missense_V196G exm1006201 12 53045578 [T/C] NM_000423 KRT2 EXON Missense_G117S exm1006203 12 53045587 [T/C] NM_000423 KRT2 EXON Missense_G114S exm1006206 12 53045626 [T/C] NM_000423 KRT2 EXON Missense_S101G exm1006222 12 53045787 [T/C] NM_000423 KRT2 EXON Missense_G47D exm1006223 12 53045793 [T/C] NM_000423 KRT2 EXON Missense_R45H exm1006226 12 53045827 [A/G] NM_000423 KRT2 EXON Missense_R34W exm1006228 12 53045869 [A/G] NM_000423 KRT2 EXON Missense_R20W exm1006230 12 53069000 [T/C] NM_006121 KRT1 EXON Missense_T638A exm1006232 12 53069014 [T/C] NM_006121 KRT1 EXON Missense_K633R exm1006253 12 53069338 [T/G] NM_006121 KRT1 EXON Missense_Y525S exm1006256 12 53069392 [T/G] NM_006121 KRT1 EXON Missense_T507K exm2220713 12 53071197 [T/C] NM_006121 KRT1 EXON Missense_S344N exm1006284 12 53071246 [A/T] NM_006121 KRT1 EXON Missense_T328S exm2251048 12 53072391 [A/G] NM_006121 KRT1 EXON Synonymous_S247S exm1006299 12 53072481 [G/C] NM_006121 KRT1 EXON Missense_Q217H exm2277039 12 53073826 [T/C] NM_006121 KRT1 EXON Missense_G103S exm1006330 12 53073940 [A/G] NM_006121 KRT1 EXON Missense_R65W exm1006344 12 53074123 [C/G] NM_006121 KRT1 EXON Missense_Q4E exm1006379 12 53086340 [A/C] NM_175078 KRT77 EXON Missense_L431R exm1006381 12 53086342 [G/C] NM_175078 KRT77 EXON Missense_D430E exm1006383 12 53086400 [A/G] NM_175078 KRT77 EXON Missense_S411L exm1006393 12 53086645 [A/G] NM_175078 KRT77 EXON Missense_T367M exm1006396 12 53088430 [T/C] NM_175078 KRT77 EXON Missense_E354K exm1006399 12 53088468 [T/C] NM_175078 KRT77 EXON Missense_Q341R exm1006400 12 53088474 [T/C] NM_175078 KRT77 EXON Missense_R339Q exm1006401 12 53088475 [A/G] NM_175078 KRT77 EXON Missense_R339W exm1006402 12 53088484 [T/C] NM_175078 KRT77 EXON Missense_D336N exm1006405 12 53088525 [A/G] NM_175078 KRT77 EXON Missense_S322F exm1006415 12 53090183 [T/C] NM_175078 KRT77 EXON Missense_S264G exm1006423 12 53091521 [A/G] NM_175078 KRT77 EXON Missense_R235C exm1777027 12 53091607 [A/G] NM_175078 KRT77 EXON Missense_T206I exm1006431 12 53091676 [T/C] NM_175078 KRT77 EXON Missense_R183Q exm1006446 12 53096894 [T/C] NM_175078 KRT77 EXON Missense_G109R exm1006459 12 53097083 [A/C] NM_175078 KRT77 EXON Missense_G46C exm2220717 12 53097085 [T/C] NM_175078 KRT77 EXON Missense_G45D exm1006461 12 53097125 [A/G] NM_175078 KRT77 EXON Missense_P32S exm1006463 12 53097191 [T/C] NM_175078 KRT77 EXON Missense_A10T exm1006468 12 53162528 [A/G] NM_015848 KRT76 EXON Missense_T629M exm1006470 12 53162544 [A/G] NM_015848 KRT76 EXON Missense_R624C exm1006481 12 53162655 [T/C] NM_015848 KRT76 EXON Missense_G587S exm1006486 12 53162662 [A/C] NM_015848 KRT76 EXON Missense_R584S exm1006488 12 53162687 [T/C] NM_015848 KRT76 EXON Missense_Y576C exm2220718 12 53162723 [G/C] NM_015848 KRT76 EXON Missense_S564T exm1006498 12 53162796 [T/C] NM_015848 KRT76 EXON Missense_G540S exm1006520 12 53164870 [T/C] NM_015848 KRT76 EXON Missense_R466H exm1777044 12 53164891 [T/G] NM_015848 KRT76 EXON Missense_D459A exm1006525 12 53164936 [T/C] NM_015848 KRT76 EXON Missense_N444S exm1006527 12 53164964 [A/G] NM_015848 KRT76 EXON Missense_R435C exm1006530 12 53165684 [A/G] NM_015848 KRT76 EXON Missense_R412W exm1006539 12 53165949 [T/C] NM_015848 KRT76 EXON Missense_E356K exm1006542 12 53165991 [A/T] NM_015848 KRT76 EXON Missense_M342L exm1777056 12 53165994 [A/G] NM_015848 KRT76 EXON Missense_S341P exm1006549 12 53167374 [A/G] NM_015848 KRT76 EXON Missense_L290F exm1006550 12 53167395 [T/C] NM_015848 KRT76 EXON Missense_A283T exm1006553 12 53167416 [A/C] NM_015848 KRT76 EXON Nonsense_E276X exm1006556 12 53169184 [T/C] NM_015848 KRT76 EXON Missense_D268G exm1777064 12 53169239 [T/C] NM_015848 KRT76 EXON Missense_G250R exm1006562 12 53169280 [A/G] NM_015848 KRT76 EXON Missense_S236F exm1006577 12 53170604 [G/C] NM_015848 KRT76 EXON Missense_V158L exm1006584 12 53170758 [A/C] NM_015848 KRT76 EXON Missense_F106L exm1006591 12 53170960 [C/G] NM_015848 KRT76 EXON Missense_A39G exm1006596 12 53171071 [T/C] NM_015848 KRT76 EXON Missense_N2S exm1006627 12 53185104 [A/G] NM_057088 KRT3 EXON Missense_A474V exm1006631 12 53185177 [T/C] NM_057088 KRT3 EXON Missense_E450K exm1006634 12 53185492 [T/C] NM_057088 KRT3 EXON Missense_E433K exm1006637 12 53186088 [G/C] NM_057088 KRT3 EXON Missense_R375G exm1006638 12 53186109 [A/C] NM_057088 KRT3 EXON Missense_D368Y exm1006648 12 53186532 [A/G] NM_057088 KRT3 EXON Missense_I329T exm1006650 12 53186577 [A/G] NM_057088 KRT3 EXON Missense_A314V exm1006653 12 53186985 [A/G] NM_057088 KRT3 EXON Missense_R297C exm1006660 12 53187985 [T/C] NM_057088 KRT3 EXON Missense_R259Q exm1006661 12 53188037 [A/G] NM_057088 KRT3 EXON Missense_S242P exm1006662 12 53188055 [C/G] NM_057088 KRT3 EXON Missense_Q236E exm1006663 12 53188112 [A/G] NM_057088 KRT3 EXON Missense_R217W exm1006682 12 53189529 [T/C] NM_057088 KRT3 EXON Missense_G100S exm1006701 12 53189696 [G/C] NM_057088 KRT3 EXON Missense_G44A exm1006710 12 53189788 [C/G] NM_057088 KRT3 EXON Missense_S13R exm1006711 12 53189801 [A/G] NM_057088 KRT3 EXON Missense_S9F exm1006715 12 53200921 [G/C] NM_002272 KRT4 EXON Missense_G499R exm1006722 12 53200986 [T/C] NM_002272 KRT4 EXON Missense_G477E exm2220720 12 53202532 [T/C] NM_002272 KRT4 EXON Missense_A313T exm1006751 12 53202571 [A/G] NM_002272 KRT4 EXON Missense_R300C exm1006756 12 53203235 [T/C] NM_002272 KRT4 EXON Missense_V256M exm1006768 12 53205566 [T/C] NM_002272 KRT4 EXON Missense_V220M exm1006771 12 53205601 [T/C] NM_002272 KRT4 EXON Missense_R208H exm1006772 12 53205602 [A/G] NM_002272 KRT4 EXON Missense_R208C exm1006773 12 53205676 [T/C] NM_002272 KRT4 EXON Missense_N183S exm1006775 12 53205749 [T/C] NM_002272 KRT4 EXON Missense_E159K exm1006776 12 53205757 [T/C] NM_002272 KRT4 EXON Missense_Q156R exm1006784 12 53207439 [A/G] NM_002272 KRT4 EXON Missense_T135M exm1006785 12 53207466 [A/G] NM_002272 KRT4 EXON Missense_I126T exm1006786 12 53207482 [T/G] NM_002272 KRT4 EXON Missense_P121T exm1006787 12 53207484 [T/G] NM_002272 KRT4 EXON Missense_T120N exm1006800 12 53207619 [T/C] NM_002272 KRT4 EXON Missense_G75E exm1006802 12 53207628 [A/G] NM_002272 KRT4 EXON Missense_A72V exm1006808 12 53207721 [T/C] NM_002272 KRT4 EXON Missense_R41Q exm1006831 12 53215684 [A/G] NM_175834 KRT79 EXON Missense_T527M exm1006832 12 53215697 [A/G] NM_175834 KRT79 EXON Missense_R523W exm1006838 12 53215816 [A/C] NM_175834 KRT79 EXON Missense_S483I exm1006840 12 53215832 [T/C] NM_175834 KRT79 EXON Missense_G478R exm2251049 12 53216832 [A/G] NM_175834 KRT79 EXON Synonymous_T445T exm1006848 12 53216926 [A/G] NM_175834 KRT79 EXON Missense_A414V exm1006850 12 53216950 [T/C] NM_175834 KRT79 EXON Missense_K406R exm1006852 12 53216977 [T/C] NM_175834 KRT79 EXON Missense_G397E exm1006853 12 53216989 [A/G] NM_175834 KRT79 EXON Missense_A393V exm1006859 12 53217718 [A/G] NM_175834 KRT79 EXON Missense_R367C exm1006861 12 53217751 [A/G] NM_175834 KRT79 EXON Missense_R356W exm1006863 12 53217775 [T/C] NM_175834 KRT79 EXON Missense_A348T exm1006873 12 53223850 [T/G] NM_175834 KRT79 EXON Missense_T271N exm1006874 12 53223865 [T/C] NM_175834 KRT79 EXON Missense_H266R exm2251050 12 53224037 [A/G] NM_175834 KRT79 EXON Synonymous_N246N exm1006884 12 53224050 [A/G] NM_175834 KRT79 EXON Missense_T242I exm1006887 12 53225239 [A/C] NM_175834 KRT79 EXON Missense_D217Y exm1006889 12 53225274 [A/G] NM_175834 KRT79 EXON Missense_T205M exm1006890 12 53225280 [T/C] NM_175834 KRT79 EXON Missense_R203Q exm1006891 12 53225282 [T/C] NM_175834 KRT79 EXON Missense_M202I exm1006897 12 53225350 [C/G] NM_175834 KRT79 EXON Missense_Q180E exm1006900 12 53225406 [T/C] NM_175834 KRT79 EXON Missense_R161Q exm1006906 12 53227629 [T/C] NM_175834 KRT79 EXON Missense_R139H exm1777180 12 53227630 [A/G] NM_175834 KRT79 EXON Missense_R139C exm1006907 12 53227635 [T/C] NM_175834 KRT79 EXON Missense_R137Q exm1006916 12 53227734 [A/G] NM_175834 KRT79 EXON Missense_T104M exm1006920 12 53227788 [T/C] NM_175834 KRT79 EXON Missense_G86E exm1006938 12 53227908 [T/C] NM_175834 KRT79 EXON Missense_G46D exm1006940 12 53227933 [T/C] NM_175834 KRT79 EXON Missense_V38M exm1006944 12 53227957 [A/G] NM_175834 KRT79 EXON Missense_R30C exm1006949 12 53228025 [T/C] NM_175834 KRT79 EXON Missense_R7Q exm1006954 12 53232935 [T/C] NM_173352 KRT78 EXON Missense_T509A exm1006960 12 53233019 [T/C] NM_173352 KRT78 EXON Missense_G481S exm1006966 12 53233123 [A/C] NM_173352 KRT78 EXON Missense_G446V exm1006975 12 53233614 [A/C] NM_173352 KRT78 EXON Missense_S401I exm1006977 12 53233629 [T/A] NM_173352 KRT78 EXON Missense_Y396F exm1006979 12 53233644 [T/C] NM_173352 KRT78 EXON Missense_R391Q exm1777193 12 53233704 [A/G] NM_173352 KRT78 EXON Missense_A371V exm1006985 12 53233717 [A/C] NM_173352 KRT78 EXON Missense_A367S exm1006993 12 53237950 [A/G] NM_173352 KRT78 EXON Missense_T325M exm1006994 12 53237959 [A/G] NM_173352 KRT78 EXON Missense_M322T exm1006997 12 53238347 [A/G] NM_173352 KRT78 EXON Missense_T306I exm1007000 12 53238387 [T/C] NM_173352 KRT78 EXON Missense_A293T exm1007004 12 53238422 [A/C] NM_173352 KRT78 EXON Missense_I281S exm1007008 12 53238479 [T/C] NM_173352 KRT78 EXON Missense_S262N exm1007013 12 53240018 [T/C] NM_173352 KRT78 EXON Missense_R240K exm1007014 12 53240025 [T/C] NM_173352 KRT78 EXON Missense_A238T exm1007016 12 53240066 [G/C] NM_173352 KRT78 EXON Missense_G224A exm1007033 12 53241751 [T/C] NM_173352 KRT78 EXON Missense_R180Q exm1007035 12 53241799 [A/G] NM_173352 KRT78 EXON Missense_A164V exm1007043 12 53242389 [A/G] NM_173352 KRT78 EXON Missense_T109M exm1007044 12 53242393 [A/G] NM_173352 KRT78 EXON Missense_R108W exm1007045 12 53242401 [T/C] NM_173352 KRT78 EXON Missense_Q105R exm1007049 12 53242440 [A/G] NM_173352 KRT78 EXON Missense_L92P exm1007053 12 53242498 [A/G] NM_173352 KRT78 EXON Missense_P73S exm1007056 12 53242560 [T/C] NM_173352 KRT78 EXON Missense_R52H exm1007057 12 53242579 [T/C] NM_173352 KRT78 EXON Missense_G46R exm1007063 12 53242641 [T/C] NM_173352 KRT78 EXON Missense_R25H exm1007064 12 53242654 [A/G] NM_173352 KRT78 EXON Missense_R21C exm1007065 12 53242659 [A/G] NM_173352 KRT78 EXON Missense_S19F exm1007066 12 53242671 [T/C] NM_173352 KRT78 EXON Missense_R15H exm1007068 12 53242695 [T/C] NM_173352 KRT78 EXON Missense_R7Q exm-rs902774 12 53273904 [A/G] exm1007119 12 53293843 [A/G] NM_001256282,NR_045962,NM_001256293,NM_002273 KRT8,KRT8,KRT8,KRT8 EXON Missense_R261W,Silent,Missense_R233W,Missense_R233W exm2271730 12 53369160 [T/C] exm2267437 12 53393964 [A/G] exm2251053 12 53412610 [T/C] NM_001417 EIF4B EXON Synonymous_D60D exm2251054 12 53412625 [A/G] NM_001417 EIF4B EXON Synonymous_A65A exm1007266 12 53421807 [A/T] NM_001417 EIF4B EXON Missense_S272T exm1007278 12 53427780 [T/G] NM_001417 EIF4B EXON Missense_Q390H exm1007302 12 53433090 [A/G] NM_001417 EIF4B EXON Missense_D549N exm1007304 12 53433486 [T/C] NM_001417 EIF4B EXON Synonymous_S585S exm1007305 12 53433944 [G/C] NM_001417 EIF4B EXON Missense_S591R exm1007316 12 53444004 [A/G] NR_033854,NM_198316,NM_015319,NM_170754 LOC283335,TENC1,TENC1,TENC1 EXON Silent,Silent,Silent,Missense_R12K exm1007320 12 53444036 [A/G] NR_033854,NM_198316,NM_015319,NM_170754 LOC283335,TENC1,TENC1,TENC1 EXON Silent,Silent,Silent,Missense_A23T exm1007332 12 53447225 [T/G] NR_033854,NM_198316,NM_015319,NM_170754 LOC283335,TENC1,TENC1,TENC1 EXON Silent,Silent,Missense_V95L,Missense_V85L exm1777306 12 53447568 [T/C] NR_033854,NM_198316,NM_015319,NM_170754 LOC283335,TENC1,TENC1,TENC1 EXON Silent,Silent,Missense_T101M,Missense_T91M exm1007338 12 53447571 [T/C] NR_033854,NM_198316,NM_015319,NM_170754 LOC283335,TENC1,TENC1,TENC1 EXON Silent,Silent,Missense_A102V,Missense_A92V exm1007375 12 53451849 [C/G] NM_198316,NM_015319,NM_170754 TENC1,TENC1,TENC1 EXON Missense_S229T,Missense_S363T,Missense_S353T exm1007381 12 53452130 [A/G] NM_198316,NM_015319,NM_170754 TENC1,TENC1,TENC1 EXON Missense_T252A,Missense_T386A,Missense_T376A exm1007384 12 53452217 [A/G] NM_198316,NM_015319,NM_170754 TENC1,TENC1,TENC1 EXON Missense_E281K,Missense_E415K,Missense_E405K exm1007396 12 53452510 [A/G] NM_198316,NM_015319,NM_170754 TENC1,TENC1,TENC1 EXON Missense_R311Q,Missense_R445Q,Missense_R435Q exm1007398 12 53452515 [A/G] NM_198316,NM_015319,NM_170754 TENC1,TENC1,TENC1 EXON Missense_D313N,Missense_D447N,Missense_D437N exm1007399 12 53452525 [T/C] NM_198316,NM_015319,NM_170754 TENC1,TENC1,TENC1 EXON Missense_V316A,Missense_V450A,Missense_V440A exm1007409 12 53452849 [A/G] NM_198316,NM_015319,NM_170754 TENC1,TENC1,TENC1 EXON Missense_R351Q,Missense_R485Q,Missense_R475Q exm1007410 12 53452888 [A/G] NM_198316,NM_015319,NM_170754 TENC1,TENC1,TENC1 EXON Missense_R364Q,Missense_R498Q,Missense_R488Q exm1007413 12 53452917 [T/C] NM_198316,NM_015319,NM_170754 TENC1,TENC1,TENC1 EXON Missense_S374P,Missense_S508P,Missense_S498P exm2251055 12 53452994 [A/G] NM_198316,NM_015319,NM_170754 TENC1,TENC1,TENC1 EXON Synonymous_P399P,Synonymous_P533P,Synonymous_P523P exm1007420 12 53453013 [T/C] NM_198316,NM_015319,NM_170754 TENC1,TENC1,TENC1 EXON Missense_R406W,Missense_R540W,Missense_R530W exm1007421 12 53453014 [A/G] NM_198316,NM_015319,NM_170754 TENC1,TENC1,TENC1 EXON Missense_R406Q,Missense_R540Q,Missense_R530Q exm1007435 12 53453281 [A/G] NM_198316,NM_015319,NM_170754 TENC1,TENC1,TENC1 EXON Missense_R495K,Missense_R629K,Missense_R619K exm1007449 12 53453433 [A/G] NM_198316,NM_015319,NM_170754 TENC1,TENC1,TENC1 EXON Missense_A546T,Missense_A680T,Missense_A670T exm1007452 12 53453461 [T/C] NM_198316,NM_015319,NM_170754 TENC1,TENC1,TENC1 EXON Missense_L555P,Missense_L689P,Missense_L679P exm1007462 12 53453668 [T/C] NM_198316,NM_015319,NM_170754 TENC1,TENC1,TENC1 EXON Missense_P624L,Missense_P758L,Missense_P748L exm1007463 12 53453698 [G/C] NM_198316,NM_015319,NM_170754 TENC1,TENC1,TENC1 EXON Missense_P634R,Missense_P768R,Missense_P758R exm1007469 12 53453836 [A/G] NM_198316,NM_015319,NM_170754 TENC1,TENC1,TENC1 EXON Missense_R680H,Missense_R814H,Missense_R804H exm1007473 12 53453905 [A/G] NM_198316,NM_015319,NM_170754 TENC1,TENC1,TENC1 EXON Missense_R703Q,Missense_R837Q,Missense_R827Q exm1007474 12 53453922 [T/C] NM_198316,NM_015319,NM_170754 TENC1,TENC1,TENC1 EXON Missense_P709S,Missense_P843S,Missense_P833S exm1007476 12 53453965 [A/C] NM_198316,NM_015319,NM_170754 TENC1,TENC1,TENC1 EXON Missense_E723A,Missense_E857A,Missense_E847A exm1777357 12 53454502 [A/C] NM_198316,NM_015319,NM_170754 TENC1,TENC1,TENC1 EXON Missense_Q814K,Missense_Q948K,Missense_Q938K exm1007497 12 53454529 [T/C] NM_198316,NM_015319,NM_170754 TENC1,TENC1,TENC1 EXON Missense_P823S,Missense_P957S,Missense_P947S exm1007498 12 53454545 [G/C] NM_198316,NM_015319,NM_170754 TENC1,TENC1,TENC1 EXON Missense_A828G,Missense_A962G,Missense_A952G exm1007501 12 53454608 [T/C] NM_198316,NM_015319,NM_170754 TENC1,TENC1,TENC1 EXON Missense_P849L,Missense_P983L,Missense_P973L exm2220734 12 53454694 [T/C] NM_198316,NM_015319,NM_170754 TENC1,TENC1,TENC1 EXON Missense_R878W,Missense_R1012W,Missense_R1002W exm1007503 12 53454727 [T/C] NM_198316,NM_015319,NM_170754 TENC1,TENC1,TENC1 EXON Missense_R889C,Missense_R1023C,Missense_R1013C exm1007505 12 53454763 [A/G] NM_198316,NM_015319,NM_170754 TENC1,TENC1,TENC1 EXON Missense_D901N,Missense_D1035N,Missense_D1025N exm1007512 12 53454938 [A/G] NM_198316,NM_015319,NM_170754 TENC1,TENC1,TENC1 EXON Missense_G959E,Missense_G1093E,Missense_G1083E exm1007522 12 53455228 [A/C] NM_198316,NM_015319,NM_170754 TENC1,TENC1,TENC1 EXON Nonsense_Y1017X,Nonsense_Y1151X,Nonsense_Y1141X exm1777381 12 53456476 [A/G] NM_198316,NM_015319,NM_170754 TENC1,TENC1,TENC1 EXON Missense_G1149D,Missense_G1283D,Missense_G1273D exm1007550 12 53457198 [A/G] NM_198316,NM_015319,NM_170754 TENC1,TENC1,TENC1 EXON Missense_R1229Q,Missense_R1363Q,Missense_R1353Q exm1007612 12 53491511 [T/C] NM_002178 IGFBP6 EXON Missense_H4Y exm1007627 12 53494543 [C/G] NM_002178 IGFBP6 EXON Missense_R128G exm1007638 12 53494835 [A/G] NM_002178 IGFBP6 EXON Missense_R164H exm1007643 12 53494891 [T/C] NM_002178 IGFBP6 EXON Nonsense_Q183X exm1007644 12 53494903 [A/G] NM_002178 IGFBP6 EXON Missense_V187M exm2274594 12 53494922 [A/G] NM_002178 IGFBP6 EXON Missense_R193Q exm1007649 12 53495878 [A/G] NM_002178 IGFBP6 EXON Missense_R217Q exm1007656 12 53497402 [A/G] NM_003578 SOAT2 EXON Missense_E14G exm1007658 12 53497426 [A/G] NM_003578 SOAT2 EXON Missense_R22H exm1007664 12 53497989 [A/C] NM_003578 SOAT2 EXON Missense_E46A exm1007671 12 53499388 [T/C] NM_003578 SOAT2 EXON Missense_R107C exm1007673 12 53499701 [A/G] NM_003578 SOAT2 EXON Missense_E116K exm1007674 12 53499750 [A/G] NM_003578 SOAT2 EXON Missense_C132Y exm1007691 12 53509433 [G/C] NM_003578 SOAT2 EXON Missense_E235Q exm1007698 12 53509933 [T/C] NM_003578 SOAT2 EXON Missense_T254I exm1007699 12 53509948 [A/G] NM_003578 SOAT2 EXON Missense_R259Q exm1007702 12 53512134 [T/G] NM_003578 SOAT2 EXON Missense_G260V exm1007723 12 53514600 [A/C] NM_003578 SOAT2 EXON Missense_A357D exm1007726 12 53514621 [A/T] NM_003578 SOAT2 EXON Missense_N364I exm1777453 12 53514634 [A/G] NM_003578 SOAT2 EXON Synonymous_E368E exm1007729 12 53514666 [A/G] NM_003578 SOAT2 EXON Missense_R379Q exm1007737 12 53515124 [G/C] NM_003578 SOAT2 EXON Missense_R392P exm1007740 12 53515184 [A/G] NM_003578 SOAT2 EXON Missense_R412Q exm1007741 12 53516869 [T/C] NM_003578 SOAT2 EXON Missense_L414P exm1007742 12 53516878 [A/G] NM_003578 SOAT2 EXON Missense_R417Q exm1007743 12 53516919 [A/G] NM_003578 SOAT2 EXON Missense_A431T exm1007744 12 53516930 [A/T] NM_003578 SOAT2 EXON Missense_H434Q exm1007758 12 53517637 [T/C] NM_003578 SOAT2 EXON Missense_R500W exm1007766 12 53552336 [A/T] NM_001244706,NM_015989,NM_001244705 CSAD,CSAD,CSAD EXON Missense_F248I,Missense_F508I,Missense_F481I exm1007770 12 53552380 [T/C] NM_001244706,NM_015989,NM_001244705 CSAD,CSAD,CSAD EXON Missense_R233H,Missense_R493H,Missense_R466H exm1007777 12 53553459 [T/G] NM_001244706,NM_015989,NM_001244705 CSAD,CSAD,CSAD EXON Missense_P186H,Missense_P446H,Missense_P419H exm1007778 12 53553463 [A/G] NM_001244706,NM_015989,NM_001244705 CSAD,CSAD,CSAD EXON Missense_P185S,Missense_P445S,Missense_P418S exm1007781 12 53553905 [A/G] NM_001244706,NM_015989,NM_001244705 CSAD,CSAD,CSAD EXON Missense_R156W,Missense_R416W,Missense_R389W exm1007785 12 53553995 [A/G] NM_001244706,NM_015989,NM_001244705 CSAD,CSAD,CSAD EXON Missense_R126C,Missense_R386C,Missense_R359C exm1007786 12 53553998 [A/G] NM_001244706,NM_015989,NM_001244705 CSAD,CSAD,CSAD EXON Missense_R125C,Missense_R385C,Missense_R358C exm1007793 12 53554103 [T/C] NM_001244706,NM_015989,NM_001244705 CSAD,CSAD,CSAD EXON Missense_N90D,Missense_N350D,Missense_N323D exm1007794 12 53554548 [A/G] NM_001244706,NM_015989,NM_001244705 CSAD,CSAD,CSAD EXON Missense_S89L,Missense_S349L,Missense_S322L exm1007818 12 53566174 [T/A] NM_015989,NM_001244705 CSAD,CSAD EXON Missense_H127Q,Missense_H100Q exm1007820 12 53566222 [T/C] NM_015989,NM_001244705 CSAD,CSAD Silent,Silent exm1007822 12 53566324 [A/G] NM_015989,NM_001244705 CSAD,CSAD EXON Missense_R106C,Missense_R79C exm1007823 12 53566335 [T/C] NM_015989,NM_001244705 CSAD,CSAD EXON Missense_R102Q,Missense_R75Q exm1007824 12 53566336 [G/C] NM_015989,NM_001244705 CSAD,CSAD EXON Missense_R102G,Missense_R75G exm1007841 12 53573579 [A/G] NM_015989,NM_001244705 CSAD,CSAD EXON Missense_L5P,Silent exm1007850 12 53578736 [A/C] NM_001004304 ZNF740 EXON Missense_K24T exm1007855 12 53579178 [A/G] NM_001004304 ZNF740 EXON Missense_R56Q exm1007856 12 53579204 [T/C] NM_001004304 ZNF740 EXON Missense_R65C exm1007874 12 53585372 [A/G] NM_000889 ITGB7 EXON Missense_R789C exm2251056 12 53586226 [A/G] NM_000889 ITGB7 EXON Synonymous_P681P exm1007895 12 53586255 [A/G] NM_000889 ITGB7 EXON Missense_H672Y exm1007908 12 53586536 [T/C] NM_000889 ITGB7 EXON Missense_G629S exm1007912 12 53586574 [A/T] NM_000889 ITGB7 EXON Missense_H616L exm1007918 12 53586685 [T/C] NM_000889 ITGB7 EXON Missense_R579H exm1007920 12 53586963 [T/C] NM_000889 ITGB7 EXON Missense_D563N exm1007935 12 53587594 [A/G] NM_000889 ITGB7 EXON Missense_I467T exm1007943 12 53588016 [T/C] NM_000889 ITGB7 EXON Missense_R425Q exm1007946 12 53588113 [C/G] NM_000889 ITGB7 EXON Missense_V393L exm1007961 12 53589950 [C/G] NM_000889 ITGB7 EXON Missense_L284V exm2220740 12 53590514 [T/C] NM_000889 ITGB7 EXON Missense_R222H exm1007974 12 53590542 [T/G] NM_000889 ITGB7 EXON Missense_R213S exm1007979 12 53590580 [A/G] NM_000889 ITGB7 EXON Missense_T200M exm2251057 12 53591374 [A/G] NM_000889 ITGB7 EXON Synonymous_D159D exm1008002 12 53594124 [T/C] NM_000889 ITGB7 EXON Missense_R35Q exm1008003 12 53594125 [A/G] NM_000889 ITGB7 EXON Missense_R35W exm1008016 12 53605545 [A/G] NM_001243731,NM_000966,NM_001243732,NM_001243730,NM_001042728 RARG,RARG,RARG,RARG,RARG EXON Missense_S306L,Missense_S427L,Missense_S405L,Missense_S355L,Missense_S416L exm1008018 12 53606926 [A/G] NM_001243731,NM_000966,NM_001243732,NM_001243730,NM_001042728 RARG,RARG,RARG,RARG,RARG EXON Missense_Y253H,Missense_Y374H,Missense_Y352H,Missense_Y302H,Missense_Y363H exm1008023 12 53606991 [T/C] NM_001243731,NM_000966,NM_001243732,NM_001243730,NM_001042728 RARG,RARG,RARG,RARG,RARG EXON Missense_K231R,Missense_K352R,Missense_K330R,Missense_K280R,Missense_K341R exm1008037 12 53608376 [A/G] NM_001243731,NM_000966,NM_001243732,NM_001243730,NM_001042728 RARG,RARG,RARG,RARG,RARG EXON Missense_R43W,Missense_R164W,Missense_R142W,Missense_R92W,Missense_R153W exm1008057 12 53621248 [T/C] NM_001243731,NM_000966,NM_001243730 RARG,RARG,RARG EXON Silent,Missense_A28T,Silent exm2220742 12 53624954 [C/G] NM_001243731,NM_000966,NM_001243730 RARG,RARG,RARG EXON Silent,Silent,Silent exm1008069 12 53646756 [A/G] NM_001170790,NM_032889 MFSD5,MFSD5 EXON Missense_Y153C,Missense_Y46C exm1777610 12 53647302 [A/G] NM_001170790,NM_032889 MFSD5,MFSD5 EXON Missense_R335Q,Missense_R228Q exm1008098 12 53647451 [A/G] NM_001170790,NM_032889 MFSD5,MFSD5 EXON Missense_G385R,Missense_G278R exm1008110 12 53647685 [T/G] NM_001170790,NM_032889 MFSD5,MFSD5 EXON Missense_L463V,Missense_L356V exm1008111 12 53647712 [T/C] NM_001170790,NM_032889 MFSD5,MFSD5 EXON Missense_R472W,Missense_R365W exm1008119 12 53647928 [T/C] NM_001170790,NM_032889 MFSD5,MFSD5 EXON Missense_R544W,Missense_R437W exm1008125 12 53662624 [A/C] NM_012291 ESPL1 EXON Missense_A25D exm1008127 12 53662842 [A/G] NM_012291 ESPL1 EXON Missense_S39N exm1008129 12 53662964 [G/C] NM_012291 ESPL1 EXON Missense_L80V exm1008130 12 53663073 [T/C] NM_012291 ESPL1 EXON Missense_A116V exm1008143 12 53663433 [C/G] NM_012291 ESPL1 EXON Missense_R236T exm1008151 12 53663634 [T/C] NM_012291 ESPL1 EXON Missense_V303A exm1008174 12 53670433 [A/G] NM_012291 ESPL1 EXON Missense_D577G exm1008178 12 53670490 [A/G] NM_012291 ESPL1 EXON Missense_R596Q exm2251059 12 53670563 [A/C] NM_012291 ESPL1 EXON Synonymous_A620A exm1008191 12 53671005 [A/G] NM_012291 ESPL1 EXON Missense_M693I exm1008192 12 53671007 [A/G] NM_012291 ESPL1 EXON Missense_Q694R exm1008195 12 53671264 [A/G] NM_012291 ESPL1 EXON Missense_R699Q exm1008197 12 53671338 [G/C] NM_012291 ESPL1 EXON Missense_Q724E exm1008202 12 53671605 [T/C] NM_012291 ESPL1 EXON Missense_A742V exm1008209 12 53673650 [A/G] NM_012291 ESPL1 EXON Synonymous_Q833Q exm1008215 12 53675412 [T/C] NM_012291 ESPL1 Silent exm1008219 12 53676181 [A/G] NM_012291 ESPL1 EXON Missense_N918S exm1777664 12 53677203 [C/G] NM_012291 ESPL1 EXON Missense_E986D exm2251060 12 53677869 [T/C] NM_012291 ESPL1 EXON Synonymous_G1035G exm1008232 12 53679752 [A/C] NM_012291 ESPL1 EXON Missense_H1078N exm1008233 12 53679753 [A/G] NM_012291 ESPL1 EXON Missense_H1078R exm1008235 12 53679809 [A/G] NM_012291 ESPL1 EXON Missense_E1097K exm1008247 12 53679989 [A/G] NM_012291 ESPL1 EXON Missense_T1157A exm1008249 12 53680011 [T/G] NM_012291 ESPL1 EXON Missense_V1164G exm1008251 12 53680020 [T/C] NM_012291 ESPL1 EXON Missense_T1167M exm1008256 12 53680220 [A/G] NM_012291 ESPL1 EXON Missense_G1234S exm1008257 12 53680241 [A/G] NM_012291 ESPL1 EXON Missense_E1241K exm1008267 12 53680478 [T/C] NM_012291 ESPL1 EXON Missense_R1320C exm1008269 12 53680505 [A/C] NM_012291 ESPL1 EXON Missense_R1329S exm1008270 12 53680512 [A/G] NM_012291 ESPL1 EXON Missense_N1331S exm1008278 12 53680667 [T/G] NM_012291 ESPL1 EXON Missense_V1383L exm1008288 12 53681963 [A/G] NM_012291 ESPL1 EXON Missense_A1462T exm1008294 12 53682014 [A/G] NM_012291 ESPL1 EXON Missense_R1479G exm1008297 12 53682043 [C/G] NM_012291 ESPL1 EXON Missense_I1488M exm1008302 12 53682107 [A/G] NM_012291 ESPL1 EXON Missense_G1510R exm1008303 12 53682119 [A/G] NM_012291 ESPL1 EXON Missense_A1514T exm1008312 12 53682394 [A/G] NM_012291 ESPL1 EXON Missense_K1540R exm1008313 12 53682457 [A/G] NM_012291 ESPL1 EXON Missense_R1561Q exm1008325 12 53683277 [T/C] NM_012291 ESPL1 EXON Missense_A1671V exm1008326 12 53683318 [T/G] NM_012291 ESPL1 EXON Missense_G1685C exm1008331 12 53684195 [T/G] NM_012291 ESPL1 EXON Missense_S1769I exm1008344 12 53685613 [C/G] NM_012291 ESPL1 EXON Missense_S1887T exm1008354 12 53686703 [A/G] NM_012291 ESPL1 EXON Missense_R2037H exm1008359 12 53687113 [T/C] NM_012291 ESPL1 EXON Missense_T2073M exm1008376 12 53689672 [T/C] NM_145897,NM_002624 PFDN5,PFDN5 EXON Silent,Missense_T41I exm1008382 12 53691670 [A/G] NM_145897,NM_002624 PFDN5,PFDN5 EXON Missense_V37M,Missense_V82M exm1008392 12 53693054 [T/C] NM_145897,NM_002624 PFDN5,PFDN5 EXON Synonymous_A85A,Synonymous_A130A exm1008398 12 53693531 [T/C] NM_021640 C12orf10 EXON Nonsense_Q4X exm1008399 12 53693532 [A/G] NM_021640 C12orf10 EXON Missense_Q4R exm1008400 12 53693533 [A/C] NM_021640 C12orf10 EXON Missense_Q4H exm1008404 12 53693583 [T/C] NM_021640 C12orf10 EXON Missense_T21I exm1008412 12 53693684 [G/C] NM_021640 C12orf10 EXON Missense_H55D exm1008416 12 53693956 [A/G] NM_021640 C12orf10 EXON Missense_R80Q exm1008429 12 53699765 [A/G] NM_021640 C12orf10 EXON Missense_R188Q exm1008433 12 53699992 [A/G] NM_021640 C12orf10 EXON Missense_K218R exm1008437 12 53700067 [A/G] NM_021640 C12orf10 EXON Missense_R243Q exm1008439 12 53700501 [A/G] NM_021640 C12orf10 EXON Missense_G268D exm1008444 12 53700602 [T/C] NM_021640 C12orf10 EXON Nonsense_R302X exm1008449 12 53700772 [T/C] NM_021640 C12orf10 EXON Missense_R324W exm1008454 12 53700836 [G/C] NM_021640 C12orf10 EXON Missense_A345G exm1008456 12 53700848 [T/C] NM_021640 C12orf10 EXON Missense_T349I exm1008458 12 53700853 [A/G] NM_021640 C12orf10 EXON Missense_G351S exm1008462 12 53700890 [A/G] NM_021640 C12orf10 EXON Missense_R363H exm1008467 12 53701317 [T/C] NM_001173466,NM_015665 AAAS,AAAS EXON Missense_G500R,Missense_G533R exm1777736 12 53701670 [T/C] NM_001173466,NM_015665 AAAS,AAAS EXON Missense_T426A,Missense_T459A exm1008480 12 53701866 [T/C] NM_001173466,NM_015665 AAAS,AAAS EXON Missense_R401Q,Missense_R434Q exm1008485 12 53702081 [T/C] NM_001173466,NM_015665 AAAS,AAAS EXON Missense_A379T,Missense_A412T exm1008496 12 53702581 [C/G] NM_001173466,NM_015665 AAAS,AAAS EXON Missense_D306H,Missense_D339H exm1008514 12 53703423 [A/G] NM_001173466,NM_015665 AAAS,AAAS EXON Missense_R225W,Missense_R258W exm1008520 12 53708133 [G/C] NM_001173466,NM_015665 AAAS,AAAS EXON Missense_C180S,Missense_C213S exm2220749 12 53708156 [A/C] NM_001173466,NM_015665 AAAS,AAAS EXON Missense_S172R,Missense_S205R exm1008537 12 53709162 [T/C] NM_001173466,NM_015665 AAAS,AAAS EXON Missense_R119Q,Missense_R119Q exm2251061 12 53709191 [A/C] NM_001173466,NM_015665 AAAS,AAAS EXON Synonymous_T109T,Synonymous_T109T exm1008541 12 53709210 [A/G] NM_001173466,NM_015665 AAAS,AAAS EXON Missense_V103A,Missense_V103A exm1008542 12 53709548 [A/C] NM_001173466,NM_015665 AAAS,AAAS EXON Missense_F90L,Missense_F90L exm1008551 12 53715187 [C/G] NM_001173466,NM_015665 AAAS,AAAS EXON Missense_H21Q,Missense_H21Q exm1008573 12 53722232 [T/C] NM_001173467,NM_152860 SP7,SP7 EXON Missense_G332S,Missense_G332S exm2251062 12 53722233 [A/G] NM_001173467,NM_152860 SP7,SP7 EXON Synonymous_C331C,Synonymous_C331C exm2251063 12 53722299 [T/C] NM_001173467,NM_152860 SP7,SP7 EXON Synonymous_S309S,Synonymous_S309S exm1008580 12 53722361 [A/G] NM_001173467,NM_152860 SP7,SP7 EXON Missense_R289W,Missense_R289W exm1008583 12 53722387 [A/C] NM_001173467,NM_152860 SP7,SP7 EXON Missense_R280L,Missense_R280L exm1008586 12 53722427 [A/G] NM_001173467,NM_152860 SP7,SP7 EXON Missense_R267C,Missense_R267C exm1008590 12 53722514 [A/C] NM_001173467,NM_152860 SP7,SP7 EXON Missense_G238W,Missense_G238W exm1008608 12 53723029 [T/G] NM_001173467,NM_152860 SP7,SP7 EXON Missense_A66D,Missense_A66D exm1008614 12 53723158 [A/G] NM_001173467,NM_152860 SP7,SP7 EXON Missense_A23V,Missense_A23V exm-rs2016266 12 53727955 [A/G] NM_001173467,NM_152860 SP7,SP7 Silent,Silent exm-rs10876432 12 53731891 [A/G] exm2220751 12 53775457 [A/G] NM_138473,NM_001251825,NM_003109 SP1,SP1,SP1 EXON Missense_M8V,Missense_M8V,Missense_M1V exm1008638 12 53776171 [A/G] NM_138473,NM_001251825,NM_003109 SP1,SP1,SP1 EXON Missense_Y147C,Missense_Y99C,Missense_Y140C exm1777786 12 53776381 [A/G] NM_138473,NM_001251825,NM_003109 SP1,SP1,SP1 EXON Missense_N217S,Missense_N169S,Missense_N210S exm1008645 12 53776449 [C/G] NM_138473,NM_001251825,NM_003109 SP1,SP1,SP1 EXON Missense_G240R,Missense_G192R,Missense_G233R exm1008656 12 53776673 [A/T] NM_138473,NM_001251825,NM_003109 SP1,SP1,SP1 EXON Missense_Q314H,Missense_Q266H,Missense_Q307H exm1008667 12 53776936 [A/G] NM_138473,NM_001251825,NM_003109 SP1,SP1,SP1 EXON Missense_Q402R,Missense_Q354R,Missense_Q395R exm1008680 12 53800369 [A/G] NM_138473,NM_001251825,NM_003109 SP1,SP1,SP1 EXON Missense_G559D,Missense_G511D,Missense_G552D exm1008685 12 53803151 [T/C] NM_138473,NM_001251825,NM_003109 SP1,SP1,SP1 EXON Missense_S617L,Missense_S569L,Missense_S610L exm1008698 12 53805002 [A/G] NM_138473,NM_001251825,NM_003109 SP1,SP1,SP1 EXON Missense_N779S,Missense_N731S,Missense_N772S exm2264492 12 53817956 [A/C] NM_001164691,NM_001164690,NM_020547 AMHR2,AMHR2,AMHR2 Silent,Silent,Silent exm1008702 12 53818090 [T/C] NM_001164691,NM_001164690,NM_020547 AMHR2,AMHR2,AMHR2 EXON Missense_T23I,Missense_T23I,Missense_T23I exm1008715 12 53818612 [A/G] NM_001164691,NM_001164690,NM_020547 AMHR2,AMHR2,AMHR2 EXON Missense_A118T,Missense_A118T,Missense_A118T exm1777808 12 53818682 [T/C] NM_001164691,NM_001164690,NM_020547 AMHR2,AMHR2,AMHR2 EXON Missense_P141L,Missense_P141L,Missense_P141L exm1008726 12 53819250 [T/C] NM_001164691,NM_001164690,NM_020547 AMHR2,AMHR2,AMHR2 EXON Nonsense_R172X,Nonsense_R172X,Nonsense_R172X exm1008728 12 53819269 [A/G] NM_001164691,NM_001164690,NM_020547 AMHR2,AMHR2,AMHR2 EXON Missense_R178Q,Missense_R178Q,Missense_R178Q exm1777827 12 53824971 [A/G] NM_001164691,NM_001164690,NM_020547 AMHR2,AMHR2,AMHR2 EXON Missense_G384E,Missense_G478S,Missense_G479E exm1008771 12 53825178 [A/G] NM_001164691,NM_001164690,NM_020547 AMHR2,AMHR2,AMHR2 EXON Missense_R453Q,Silent,Missense_R548Q exm1008839 12 53875019 [T/C] NM_006301,NM_001193511 MAP3K12,MAP3K12 EXON Missense_D843N,Missense_D876N exm1008850 12 53875972 [T/C] NM_006301,NM_001193511 MAP3K12,MAP3K12 EXON Missense_R745H,Missense_R778H exm1008892 12 53877254 [G/C] NM_006301,NM_001193511 MAP3K12,MAP3K12 EXON Missense_E465Q,Missense_E498Q exm1008919 12 53880319 [T/C] NM_006301,NM_001193511 MAP3K12,MAP3K12 EXON Missense_H145R,Missense_H178R exm1008942 12 53896877 [C/G] NM_134323,NM_004178,NM_134324 TARBP2,TARBP2,TARBP2 EXON Missense_G97A,Missense_G76A,Missense_G76A exm1008952 12 53898210 [T/C] NM_134323,NM_004178,NM_134324 TARBP2,TARBP2,TARBP2 EXON Missense_V151A,Missense_V130A,Missense_V130A exm1008959 12 53898920 [A/G] NM_134323,NM_004178,NM_134324 TARBP2,TARBP2,TARBP2 EXON Synonymous_G205G,Synonymous_G184G,Synonymous_G184G exm1008971 12 53899577 [T/C] NM_134323,NM_004178,NM_134324 TARBP2,TARBP2,TARBP2 EXON Missense_R296C,Missense_R275C,Missense_R275C exm1008973 12 53899633 [T/C] NM_134323,NM_004178,NM_134324 TARBP2,TARBP2,TARBP2 EXON Synonymous_I314I,Synonymous_I293I,Synonymous_I293I exm1008980 12 53900577 [A/G] NM_003717 NPFF EXON Missense_R109C exm1008981 12 53900627 [T/C] NM_003717 NPFF EXON Missense_R92Q exm1008982 12 53900640 [A/G] NM_003717 NPFF EXON Missense_W88R exm1008985 12 53900666 [T/C] NM_003717 NPFF EXON Missense_N79S exm1008998 12 53901183 [T/C] NM_003717 NPFF EXON Missense_G26S exm1777925 12 53917068 [C/G] NR_073163,NM_001130060,NM_006856 ATF7,ATF7,ATF7 EXON Silent,Missense_G388A,Missense_G409A exm1009017 12 53925589 [T/C] NR_073163,NM_001130060,NM_006856 ATF7,ATF7,ATF7 EXON Silent,Missense_R268H,Missense_R289H exm1009032 12 53931270 [T/G] NR_073163,NM_001130060,NM_006856 ATF7,ATF7,ATF7 EXON Silent,Missense_P111T,Missense_P111T exm1009039 12 53994750 [G/C] NR_073163,NM_001130060,NM_006856,NM_001206683,NM_001206682 ATF7,ATF7,ATF7,ATF7,ATF7 EXON Silent,Missense_P12R,Missense_P12R,Missense_P12R,Missense_P12R exm-rs11170631 12 54041192 [T/C] exm1009064 12 54069925 [A/G] NM_001002031,NM_005176 ATP5G2,ATP5G2 EXON Silent,Missense_L18F exm2271731 12 54093797 [T/C] exm1009076 12 54105889 [T/G] NR_026554,NM_020898,NM_001143682 CALCOCO1,CALCOCO1,CALCOCO1 EXON Silent,Missense_T639P,Missense_T554P exm1009080 12 54107594 [A/C] NR_026554,NM_020898,NM_001143682 CALCOCO1,CALCOCO1,CALCOCO1 EXON Silent,Missense_G561V,Missense_G476V exm1009081 12 54107597 [C/G] NR_026554,NM_020898,NM_001143682 CALCOCO1,CALCOCO1,CALCOCO1 EXON Silent,Missense_P560R,Missense_P475R exm1009084 12 54107662 [G/C] NR_026554,NM_020898,NM_001143682 CALCOCO1,CALCOCO1,CALCOCO1 EXON Silent,Missense_D538E,Missense_D453E exm1009087 12 54107929 [T/C] NR_026554,NM_020898,NM_001143682 CALCOCO1,CALCOCO1,CALCOCO1 EXON Silent,Missense_A527T,Missense_A442T exm1009088 12 54107953 [T/C] NR_026554,NM_020898,NM_001143682 CALCOCO1,CALCOCO1,CALCOCO1 EXON Silent,Missense_A519T,Missense_A434T exm1009106 12 54109659 [T/C] NR_026554,NM_020898,NM_001143682 CALCOCO1,CALCOCO1,CALCOCO1 EXON Silent,Missense_R393K,Missense_R308K exm1009110 12 54109719 [T/C] NR_026554,NM_020898,NM_001143682 CALCOCO1,CALCOCO1,CALCOCO1 EXON Silent,Missense_R373K,Missense_R288K exm1009111 12 54109726 [T/C] NR_026554,NM_020898,NM_001143682 CALCOCO1,CALCOCO1,CALCOCO1 EXON Silent,Missense_A371T,Missense_A286T exm1009114 12 54110127 [G/C] NR_026554,NM_020898,NM_001143682 CALCOCO1,CALCOCO1,CALCOCO1 EXON Silent,Missense_E308Q,Silent exm-rs941184 12 54114158 [T/C] NR_026554,NM_020898,NM_001143682 CALCOCO1,CALCOCO1,CALCOCO1 Silent,Silent,Silent exm1009124 12 54115357 [T/C] NR_026554,NM_020898,NM_001143682 CALCOCO1,CALCOCO1,CALCOCO1 EXON Silent,Missense_I218V,Missense_I185V exm1009127 12 54115831 [A/G] NR_026554,NM_020898,NM_001143682 CALCOCO1,CALCOCO1,CALCOCO1 EXON Silent,Missense_T196M,Missense_T163M exm1009128 12 54115843 [A/C] NR_026554,NM_020898,NM_001143682 CALCOCO1,CALCOCO1,CALCOCO1 EXON Silent,Missense_R192M,Missense_R159M exm1009135 12 54115940 [A/G] NR_026554,NM_020898,NM_001143682 CALCOCO1,CALCOCO1,CALCOCO1 EXON Silent,Missense_R160W,Missense_R127W exm2251064 12 54115959 [A/G] NR_026554,NM_020898,NM_001143682 CALCOCO1,CALCOCO1,CALCOCO1 EXON Silent,Synonymous_L153L,Synonymous_L120L exm1009141 12 54117487 [A/G] NR_026554,NM_020898,NM_001143682 CALCOCO1,CALCOCO1,CALCOCO1 EXON Silent,Missense_P114S,Silent exm2220757 12 54117564 [T/C] NR_026554,NM_020898,NM_001143682 CALCOCO1,CALCOCO1,CALCOCO1 EXON Silent,Missense_S88N,Silent exm1009150 12 54118483 [T/C] NR_026554,NM_020898,NM_001143682 CALCOCO1,CALCOCO1,CALCOCO1 EXON Silent,Missense_V69M,Missense_V69M exm1009154 12 54118962 [T/C] NR_026554,NM_020898,NM_001143682 CALCOCO1,CALCOCO1,CALCOCO1 EXON Silent,Missense_R22Q,Missense_R22Q exm1009155 12 54118992 [T/C] NR_026554,NM_020898,NM_001143682 CALCOCO1,CALCOCO1,CALCOCO1 EXON Silent,Missense_R12H,Missense_R12H exm1009156 12 54119004 [T/C] NR_026554,NM_020898,NM_001143682 CALCOCO1,CALCOCO1,CALCOCO1 EXON Silent,Missense_R8Q,Missense_R8Q exm-rs7969151 12 54159277 [A/G] exm-rs7963300 12 54257941 [A/G] exm-rs2120991 12 54270228 [A/C] exm1009166 12 54333059 [A/C] NR_047507,NM_017410 HOXC-AS5,HOXC13 EXON Silent,Nonsense_Y123X exm1778020 12 54339018 [T/C] NM_017410 HOXC13 EXON Missense_A324V exm-rs1443512 12 54342684 [A/C] exm1009217 12 54350180 [A/G] NM_173860 HOXC12 EXON Missense_A227T exm1009223 12 54350333 [A/G] NM_173860 HOXC12 EXON Missense_A278T exm2220760 12 54367413 [T/C] NR_047517,NM_014212 HOTAIR,HOXC11 EXON Silent,Missense_P130S exm1009242 12 54367431 [T/G] NR_047517,NM_014212 HOTAIR,HOXC11 EXON Silent,Missense_G136C exm1009246 12 54367690 [T/C] NR_047517,NM_014212 HOTAIR,HOXC11 EXON Silent,Missense_A222V exm1778040 12 54379117 [A/G] NM_017409 HOXC10 EXON Missense_Y25C exm1009268 12 54379242 [A/C] NM_017409 HOXC10 EXON Missense_N67H exm2251067 12 54379295 [T/C] NM_017409 HOXC10 EXON Synonymous_A84A exm1009269 12 54379295 [T/C] NM_017409 HOXC10 EXON Synonymous_A84A exm1778043 12 54379335 [T/G] NM_017409 HOXC10 EXON Missense_S98A exm1009280 12 54379510 [C/G] NM_017409 HOXC10 EXON Missense_S156C exm1009281 12 54379513 [T/C] NM_017409 HOXC10 EXON Missense_A157V exm1009283 12 54379596 [A/G] NM_017409 HOXC10 EXON Missense_E185K exm1009284 12 54379603 [T/G] NM_017409 HOXC10 EXON Missense_L187R exm1009288 12 54379678 [A/G] NM_017409 HOXC10 EXON Missense_N212S exm1009292 12 54379780 [A/C] NM_017409 HOXC10 EXON Missense_D246A exm1009317 12 54394274 [C/G] NM_006897 HOXC9 EXON Missense_S101C exm1009324 12 54396319 [T/C] NM_006897 HOXC9 EXON Missense_M215T exm1009346 12 54403384 [T/G] NM_022658 HOXC8 EXON Missense_A106S exm1009347 12 54403389 [A/C] NM_022658 HOXC8 EXON Missense_S107R exm1009373 12 54422504 [T/C] NM_153693,NR_003084,NM_014620,NM_004503 HOXC6,HOXC5,HOXC4,HOXC6 EXON Silent,Silent,Silent,Missense_R67W exm1009375 12 54422549 [C/G] NM_153693,NR_003084,NM_014620,NM_004503 HOXC6,HOXC5,HOXC4,HOXC6 EXON Silent,Silent,Silent,Missense_D82H exm1009390 12 54423717 [A/G] NM_153693,NR_003084,NM_014620,NM_004503 HOXC6,HOXC5,HOXC4,HOXC6 EXON Missense_E145K,Silent,Silent,Missense_E227K exm1009409 12 54427247 [A/G] NR_003084,NM_014620,NM_018953 HOXC5,HOXC4,HOXC5 EXON Silent,Silent,Missense_S114N exm1009415 12 54427360 [G/C] NR_003084,NM_014620,NM_018953 HOXC5,HOXC4,HOXC5 EXON Silent,Silent,Missense_E152Q exm2251068 12 54437752 [T/G] NM_014620 HOXC4 Silent exm1009443 12 54448022 [A/G] NM_014620,NM_153633 HOXC4,HOXC4 EXON Missense_A106T,Missense_A106T exm1009447 12 54448106 [A/G] NM_014620,NM_153633 HOXC4,HOXC4 EXON Missense_I134V,Missense_I134V exm1009453 12 54448727 [A/G] NM_014620,NM_153633 HOXC4,HOXC4 EXON Missense_N178S,Missense_N178S exm2220766 12 54448837 [A/C] NM_014620,NM_153633 HOXC4,HOXC4 EXON Missense_H215N,Missense_H215N exm1009479 12 54576323 [A/G] NM_001243787,NM_001243788,NM_014311,NM_001243789,NR_045039,NM_001243791,NM_001243790 SMUG1,SMUG1,SMUG1,SMUG1,SMUG1,SMUG1,SMUG1 EXON Nonsense_R124X,Nonsense_R124X,Nonsense_R124X,Nonsense_R124X,Silent,Nonsense_R124X,Nonsense_R124X exm1009482 12 54576380 [A/G] NM_001243787,NM_001243788,NM_014311,NM_001243789,NR_045039,NM_001243791,NM_001243790 SMUG1,SMUG1,SMUG1,SMUG1,SMUG1,SMUG1,SMUG1 EXON Missense_R105W,Missense_R105W,Missense_R105W,Missense_R105W,Silent,Missense_R105W,Missense_R105W exm1009485 12 54577514 [G/C] NM_001243787,NM_001243788,NM_014311,NM_001243789,NR_045039,NM_001243791,NM_001243790 SMUG1,SMUG1,SMUG1,SMUG1,SMUG1,SMUG1,SMUG1 EXON Missense_R71G,Missense_R71G,Missense_R71G,Missense_R71G,Silent,Missense_R71G,Missense_R71G exm1009489 12 54577582 [A/G] NM_001243787,NM_001243788,NM_014311,NM_001243789,NR_045039,NM_001243791,NM_001243790 SMUG1,SMUG1,SMUG1,SMUG1,SMUG1,SMUG1,SMUG1 EXON Missense_S48L,Missense_S48L,Missense_S48L,Missense_S48L,Silent,Missense_S48L,Missense_S48L exm1009491 12 54577666 [A/G] NM_001243787,NM_001243788,NM_014311,NM_001243789,NR_045039,NM_001243791,NM_001243790 SMUG1,SMUG1,SMUG1,SMUG1,SMUG1,SMUG1,SMUG1 EXON Missense_P20L,Missense_P20L,Missense_P20L,Missense_P20L,Silent,Missense_P20L,Missense_P20L exm1009496 12 54577718 [A/G] NM_001243787,NM_001243788,NM_014311,NM_001243789,NR_045039,NM_001243791,NM_001243790 SMUG1,SMUG1,SMUG1,SMUG1,SMUG1,SMUG1,SMUG1 EXON Nonsense_Q3X,Nonsense_Q3X,Nonsense_Q3X,Nonsense_Q3X,Silent,Nonsense_Q3X,Nonsense_Q3X exm1009557 12 54686187 [A/G] NM_001261461,NM_001136023,NM_006163 NFE2,NFE2,NFE2 EXON Missense_R365W,Missense_R365W,Missense_R365W exm1009576 12 54687089 [A/G] NM_001261461,NM_001136023,NM_006163 NFE2,NFE2,NFE2 EXON Missense_T64I,Missense_T64I,Missense_T64I exm-rs10506328 12 54687232 [A/C] NM_001261461,NM_001136023,NM_006163 NFE2,NFE2,NFE2 Silent,Silent,Silent exm1009614 12 54756528 [A/G] NM_020370 GPR84 EXON Missense_Y370H exm1009627 12 54756797 [T/C] NM_020370 GPR84 EXON Missense_S280N exm1009632 12 54756893 [T/C] NM_020370 GPR84 EXON Missense_G248E exm1009634 12 54756983 [T/C] NM_020370 GPR84 EXON Missense_R218Q exm1009637 12 54757028 [T/C] NM_020370 GPR84 EXON Missense_R203H exm1009640 12 54757067 [T/C] NM_020370 GPR84 EXON Missense_G190E exm1009643 12 54757122 [A/G] NM_020370 GPR84 EXON Missense_R172C exm1009644 12 54757149 [T/G] NM_020370 GPR84 EXON Missense_P163T exm1009647 12 54757191 [T/C] NM_020370 GPR84 EXON Missense_V149M exm1009648 12 54757199 [A/G] NM_020370 GPR84 EXON Missense_V146A exm1009653 12 54757354 [C/G] NM_020370 GPR84 EXON Missense_R94S exm1009657 12 54757454 [T/C] NM_020370 GPR84 EXON Missense_N61S exm1009659 12 54757464 [A/G] NM_020370 GPR84 EXON Missense_L58F exm1009660 12 54757475 [T/C] NM_020370 GPR84 EXON Missense_R54Q exm1009661 12 54757476 [A/G] NM_020370 GPR84 EXON Nonsense_R54X exm1009662 12 54757481 [T/C] NM_020370 GPR84 EXON Missense_R52H exm2220769 12 54757526 [T/C] NM_020370 GPR84 EXON Missense_G37D exm1009664 12 54757530 [T/C] NM_020370 GPR84 EXON Missense_V36M exm1778191 12 54757592 [T/G] NM_020370 GPR84 EXON Missense_S15Y exm1009672 12 54764475 [T/C] NM_015481,NM_001130968,NM_001130967 ZNF385A,ZNF385A,ZNF385A EXON Missense_V269M,Missense_V208M,Missense_V289M exm1009680 12 54764799 [A/G] NM_015481,NM_001130968,NM_001130967 ZNF385A,ZNF385A,ZNF385A EXON Missense_P229L,Missense_P168L,Missense_P249L exm2267438 12 54767443 [A/G] NM_015481,NM_001130968,NM_001130967 ZNF385A,ZNF385A,ZNF385A Silent,Silent,Silent exm1009690 12 54767768 [A/G] NM_015481,NM_001130968,NM_001130967 ZNF385A,ZNF385A,ZNF385A EXON Missense_A117V,Missense_A137V,Missense_A137V exm1009700 12 54767829 [T/C] NM_015481,NM_001130968,NM_001130967 ZNF385A,ZNF385A,ZNF385A EXON Missense_V97I,Missense_V117I,Missense_V117I exm2251069 12 54767905 [T/C] NM_015481,NM_001130968,NM_001130967 ZNF385A,ZNF385A,ZNF385A EXON Synonymous_A71A,Synonymous_A91A,Synonymous_A91A exm1009703 12 54767905 [T/C] NM_015481,NM_001130968,NM_001130967 ZNF385A,ZNF385A,ZNF385A EXON Synonymous_A71A,Synonymous_A91A,Synonymous_A91A exm1009707 12 54778212 [A/G] NM_015481,NM_001130968,NM_001130967 ZNF385A,ZNF385A,ZNF385A EXON Synonymous_T29T,Synonymous_T49T,Synonymous_T49T exm1009713 12 54778336 [T/C] NM_015481,NM_001130968,NM_001130967 ZNF385A,ZNF385A,ZNF385A EXON Silent,Missense_R8Q,Missense_R8Q exm1009716 12 54790124 [T/C] NM_002205 ITGA5 EXON Missense_A1035T exm1009728 12 54792471 [G/C] NM_002205 ITGA5 EXON Missense_Q951H exm1009733 12 54793520 [A/C] NM_002205 ITGA5 EXON Missense_F917C exm1009737 12 54793673 [A/G] NM_002205 ITGA5 EXON Missense_S901F exm1009738 12 54793719 [C/G] NM_002205 ITGA5 EXON Missense_G886R exm1009741 12 54793733 [T/A] NM_002205 ITGA5 Silent exm1009746 12 54794679 [A/G] NM_002205 ITGA5 EXON Missense_T865M exm1009752 12 54795204 [A/G] NM_002205 ITGA5 EXON Missense_P816S exm1009780 12 54796016 [T/C] NM_002205 ITGA5 EXON Missense_R694Q exm1009784 12 54796833 [C/G] NM_002205 ITGA5 EXON Missense_A639G exm1009786 12 54796984 [T/C] NM_002205 ITGA5 EXON Missense_R634Q exm1009790 12 54797042 [T/G] NM_002205 ITGA5 EXON Missense_Q615K exm1778230 12 54797066 [T/C] NM_002205 ITGA5 EXON Missense_A607T exm1009803 12 54797710 [T/C] NM_002205 ITGA5 EXON Missense_V536I exm1009806 12 54797984 [T/C] NM_002205 ITGA5 EXON Missense_A504T exm1009819 12 54798664 [A/C] NM_002205 ITGA5 EXON Missense_A414S exm1009829 12 54799449 [T/C] NM_002205 ITGA5 EXON Missense_G339R exm1778271 12 54805743 [T/C] NM_002205 ITGA5 EXON Missense_S75N exm1778284 12 54856506 [T/C] NM_144594 GTSF1 EXON Missense_N83S exm1009878 12 54856991 [T/G] NM_144594 GTSF1 EXON Missense_S70R exm1009882 12 54858856 [T/C] NM_144594 GTSF1 EXON Missense_R38G exm1778288 12 54858949 [T/C] NM_144594 GTSF1 EXON Missense_D7N exm1009885 12 54858950 [A/G] NM_144594 GTSF1 EXON Synonymous_T6T exm1009889 12 54893194 [T/C] NM_005337,NM_001184976 NCKAP1L,NCKAP1L EXON Missense_P53L,Missense_P3L exm1009890 12 54893208 [A/G] NM_005337,NM_001184976 NCKAP1L,NCKAP1L EXON Missense_I58V,Missense_I8V exm1009891 12 54893232 [C/G] NM_005337,NM_001184976 NCKAP1L,NCKAP1L EXON Missense_D66H,Missense_D16H exm1778293 12 54894320 [T/C] NM_005337,NM_001184976 NCKAP1L,NCKAP1L EXON Missense_H73Y,Missense_H23Y exm1009893 12 54894335 [T/C] NM_005337,NM_001184976 NCKAP1L,NCKAP1L EXON Missense_H78Y,Missense_H28Y exm1009900 12 54901693 [T/C] NM_005337,NM_001184976 NCKAP1L,NCKAP1L EXON Synonymous_I121I,Synonymous_I71I exm1009901 12 54902264 [A/G] NM_005337,NM_001184976 NCKAP1L,NCKAP1L EXON Missense_R152Q,Missense_R102Q exm1009903 12 54902285 [A/G] NM_005337,NM_001184976 NCKAP1L,NCKAP1L EXON Missense_N159S,Missense_N109S exm1009913 12 54905587 [A/C] NM_005337,NM_001184976 NCKAP1L,NCKAP1L EXON Missense_M246L,Missense_M196L exm1009930 12 54911392 [A/G] NM_005337,NM_001184976 NCKAP1L,NCKAP1L EXON Missense_T391A,Missense_T341A exm1009932 12 54911426 [T/C] NM_005337,NM_001184976 NCKAP1L,NCKAP1L EXON Missense_S402L,Missense_S352L exm1009978 12 54920344 [T/C] NM_005337,NM_001184976 NCKAP1L,NCKAP1L EXON Missense_T730M,Missense_T680M exm1009980 12 54920400 [A/G] NM_005337,NM_001184976 NCKAP1L,NCKAP1L EXON Missense_G749S,Missense_G699S exm1009996 12 54925136 [G/C] NM_005337,NM_001184976 NCKAP1L,NCKAP1L EXON Missense_L867V,Missense_L817V exm1010002 12 54925604 [T/C] NM_005337,NM_001184976 NCKAP1L,NCKAP1L EXON Missense_R926W,Missense_R876W exm1010003 12 54925987 [T/C] NM_005337,NM_001184976 NCKAP1L,NCKAP1L EXON Missense_P939S,Missense_P889S exm1010007 12 54928894 [T/G] NM_005337,NM_001184976 NCKAP1L,NCKAP1L EXON Missense_L957V,Missense_L907V exm1010010 12 54928967 [T/C] NM_005337,NM_001184976 NCKAP1L,NCKAP1L EXON Missense_A981V,Missense_A931V exm1010024 12 54932750 [T/C] NM_005337,NM_001184976 NCKAP1L,NCKAP1L EXON Missense_M1089T,Missense_M1039T exm1010038 12 54955390 [T/C] NM_000924,NM_001165975 PDE1B,PDE1B EXON Silent,Nonsense_Q8X exm1010063 12 54966485 [T/C] NM_000924,NM_001165975 PDE1B,PDE1B EXON Missense_T232I,Missense_T212I exm1010079 12 54967452 [C/G] NM_000924,NM_001165975 PDE1B,PDE1B EXON Missense_Q341H,Missense_Q321H exm1010085 12 54969777 [T/G] NM_000924,NM_001165975 PDE1B,PDE1B EXON Synonymous_G423G,Synonymous_G403G exm1010089 12 54969851 [T/C] NM_000924,NM_001165975 PDE1B,PDE1B EXON Missense_A448V,Missense_A428V exm2273495 12 54972992 [T/C] NM_000924,NM_001165975 PDE1B,PDE1B EXON Silent,Silent exm1010111 12 54974729 [A/G] NM_006741 PPP1R1A EXON Missense_S170L exm1010113 12 54974798 [T/C] NM_006741 PPP1R1A EXON Missense_G147D exm1010119 12 54975837 [T/C] NM_006741 PPP1R1A EXON Missense_E109G exm1010121 12 54975853 [T/C] NM_006741 PPP1R1A EXON Missense_A104T exm1010124 12 54976567 [T/C] NM_006741 PPP1R1A EXON Missense_M66V exm1010130 12 54982218 [A/G] NM_006741 PPP1R1A EXON Missense_P19S exm1010141 12 55026024 [T/C] NM_033277 LACRT Silent exm1778429 12 55026072 [T/C] NM_033277 LACRT EXON Missense_Q69R exm1010154 12 55038526 [T/C] NM_053283 DCD EXON Missense_V102I exm1778437 12 55038535 [T/C] NM_053283 DCD EXON Missense_V99I exm1010160 12 55038981 [T/C] NM_053283 DCD EXON Missense_E89K exm1010162 12 55039035 [T/C] NM_053283 DCD EXON Missense_D71N exm1778443 12 55039423 [A/G] NM_053283 DCD EXON Missense_P56S exm1010167 12 55040904 [T/C] NM_053283 DCD Silent exm1778444 12 55042039 [T/C] NM_053283 DCD EXON Missense_V17I exm2267352 12 55077399 [A/G] exm-rs1153188 12 55098996 [T/A] exm1010200 12 55248906 [T/C] NM_058173 MUCL1 EXON Missense_P22L exm1010215 12 55250661 [A/C] NM_058173 MUCL1 EXON Missense_R70S exm-rs7962801 12 55346235 [T/C] NM_014796,NM_001261844,NM_001136030,NM_001098815 TESPA1,TESPA1,TESPA1,TESPA1 Silent,Silent,Silent,Silent exm1010222 12 55354987 [T/G] NM_014796,NM_001261844,NM_001136030,NM_001098815 TESPA1,TESPA1,TESPA1,TESPA1 EXON Missense_H373P,Missense_H373P,Missense_H511P,Missense_H511P exm1010225 12 55355015 [A/G] NM_014796,NM_001261844,NM_001136030,NM_001098815 TESPA1,TESPA1,TESPA1,TESPA1 EXON Missense_R364C,Missense_R364C,Missense_R502C,Missense_R502C exm1010227 12 55355033 [T/C] NM_014796,NM_001261844,NM_001136030,NM_001098815 TESPA1,TESPA1,TESPA1,TESPA1 EXON Missense_E358K,Missense_E358K,Missense_E496K,Missense_E496K exm1010228 12 55356258 [T/C] NM_014796,NM_001261844,NM_001136030,NM_001098815 TESPA1,TESPA1,TESPA1,TESPA1 EXON Missense_R337Q,Missense_R337Q,Missense_R475Q,Missense_R475Q exm1010232 12 55356420 [A/G] NM_014796,NM_001261844,NM_001136030,NM_001098815 TESPA1,TESPA1,TESPA1,TESPA1 EXON Missense_T283M,Missense_T283M,Missense_T421M,Missense_T421M exm1010235 12 55356517 [A/G] NM_014796,NM_001261844,NM_001136030,NM_001098815 TESPA1,TESPA1,TESPA1,TESPA1 EXON Missense_P251S,Missense_P251S,Missense_P389S,Missense_P389S exm1010244 12 55356690 [T/C] NM_014796,NM_001261844,NM_001136030,NM_001098815 TESPA1,TESPA1,TESPA1,TESPA1 EXON Missense_Q193R,Missense_Q193R,Missense_Q331R,Missense_Q331R exm1010245 12 55356743 [T/G] NM_014796,NM_001261844,NM_001136030,NM_001098815 TESPA1,TESPA1,TESPA1,TESPA1 EXON Missense_D175E,Missense_D175E,Missense_D313E,Missense_D313E exm1010249 12 55356823 [T/C] NM_014796,NM_001261844,NM_001136030,NM_001098815 TESPA1,TESPA1,TESPA1,TESPA1 EXON Missense_I149V,Missense_I149V,Missense_I287V,Missense_I287V exm1010250 12 55356825 [A/G] NM_014796,NM_001261844,NM_001136030,NM_001098815 TESPA1,TESPA1,TESPA1,TESPA1 EXON Missense_A148V,Missense_A148V,Missense_A286V,Missense_A286V exm1010251 12 55356831 [T/C] NM_014796,NM_001261844,NM_001136030,NM_001098815 TESPA1,TESPA1,TESPA1,TESPA1 EXON Missense_R146Q,Missense_R146Q,Missense_R284Q,Missense_R284Q exm1010252 12 55356838 [A/G] NM_014796,NM_001261844,NM_001136030,NM_001098815 TESPA1,TESPA1,TESPA1,TESPA1 EXON Missense_R144C,Missense_R144C,Missense_R282C,Missense_R282C exm1010259 12 55356937 [A/G] NM_014796,NM_001261844,NM_001136030,NM_001098815 TESPA1,TESPA1,TESPA1,TESPA1 EXON Missense_F111L,Missense_F111L,Missense_F249L,Missense_F249L exm1010260 12 55356942 [A/T] NM_014796,NM_001261844,NM_001136030,NM_001098815 TESPA1,TESPA1,TESPA1,TESPA1 EXON Missense_Q109L,Missense_Q109L,Missense_Q247L,Missense_Q247L exm1010261 12 55357565 [A/G] NM_014796,NM_001261844,NM_001136030,NM_001098815 TESPA1,TESPA1,TESPA1,TESPA1 EXON Missense_R68W,Missense_R68W,Missense_R206W,Missense_R206W exm1010269 12 55360191 [T/G] NM_014796,NM_001261844,NM_001136030,NM_001098815 TESPA1,TESPA1,TESPA1,TESPA1 EXON Silent,Silent,Missense_N110H,Missense_N110H exm1010270 12 55360194 [T/C] NM_014796,NM_001261844,NM_001136030,NM_001098815 TESPA1,TESPA1,TESPA1,TESPA1 EXON Silent,Silent,Missense_A109T,Missense_A109T exm1010291 12 55368254 [G/C] NM_001136030,NM_001098815 TESPA1,TESPA1 EXON Missense_E31D,Missense_E31D exm1778482 12 55368286 [T/C] NM_001136030,NM_001098815 TESPA1,TESPA1 EXON Missense_S21G,Missense_S21G exm1010293 12 55368291 [T/C] NM_001136030,NM_001098815 TESPA1,TESPA1 EXON Missense_R19H,Missense_R19H exm1010294 12 55368303 [T/C] NM_001136030,NM_001098815 TESPA1,TESPA1 EXON Missense_R15Q,Missense_R15Q exm1010296 12 55368339 [A/G] NM_001136030,NM_001098815 TESPA1,TESPA1 EXON Missense_A3V,Missense_A3V exm1010299 12 55420272 [A/G] NM_021191 NEUROD4 EXON Missense_T17A exm1010305 12 55420414 [A/G] NM_021191 NEUROD4 EXON Missense_G64E exm2276249 12 55420426 [A/C] NM_021191 NEUROD4 EXON Missense_K68T exm1010310 12 55420621 [A/G] NM_021191 NEUROD4 EXON Missense_R133K exm2251071 12 55420766 [A/C] NM_021191 NEUROD4 EXON Synonymous_V181V exm1010316 12 55420785 [A/G] NM_021191 NEUROD4 EXON Missense_D188N exm1010321 12 55420867 [T/G] NM_021191 NEUROD4 EXON Missense_G215V exm1010324 12 55420918 [T/C] NM_021191 NEUROD4 EXON Missense_L232S exm1010326 12 55420962 [T/C] NM_021191 NEUROD4 EXON Missense_P247S exm1010328 12 55421009 [A/C] NM_021191 NEUROD4 EXON Missense_N262K exm1010330 12 55421073 [A/C] NM_021191 NEUROD4 EXON Missense_P284T exm1010338 12 55523587 [A/T] NM_001005243 OR9K2 EXON Missense_I12N exm1010340 12 55523617 [A/C] NM_001005243 OR9K2 EXON Missense_T22N exm1010343 12 55523685 [T/C] NM_001005243 OR9K2 EXON Missense_R45C exm1010350 12 55523803 [T/C] NM_001005243 OR9K2 EXON Missense_M84T exm1010354 12 55523860 [A/C] NM_001005243 OR9K2 EXON Missense_E103A exm1010356 12 55523885 [A/G] NM_001005243 OR9K2 EXON Nonsense_W111X exm1010365 12 55523991 [T/C] NM_001005243 OR9K2 EXON Missense_R147C exm1010374 12 55524135 [A/G] NM_001005243 OR9K2 EXON Missense_A195T exm1010375 12 55524172 [A/G] NM_001005243 OR9K2 EXON Missense_R207H exm1010382 12 55524308 [T/G] NM_001005243 OR9K2 EXON Missense_K252N exm1010384 12 55524325 [T/G] NM_001005243 OR9K2 EXON Missense_G258V exm1778507 12 55524406 [T/G] NM_001005243 OR9K2 EXON Missense_L285R exm1010387 12 55524412 [A/C] NM_001005243 OR9K2 EXON Missense_P287H exm1010394 12 55614877 [T/G] NM_001005280 OR10A7 EXON Missense_M23I exm1010396 12 55614925 [T/G] NM_001005280 OR10A7 EXON Missense_L39F exm1778527 12 55614957 [A/G] NM_001005280 OR10A7 EXON Missense_S50N exm1010397 12 55614964 [A/T] NM_001005280 OR10A7 EXON Missense_D52E exm1010398 12 55614966 [T/C] NM_001005280 OR10A7 EXON Missense_L53P exm1010401 12 55615004 [C/G] NM_001005280 OR10A7 EXON Missense_L66V exm1010406 12 55615080 [T/G] NM_001005280 OR10A7 EXON Missense_I91S exm1010408 12 55615094 [A/G] NM_001005280 OR10A7 EXON Missense_G96S exm1010410 12 55615126 [A/C] NM_001005280 OR10A7 EXON Missense_F106L exm1010412 12 55615196 [T/C] NM_001005280 OR10A7 EXON Missense_L130F exm1010414 12 55615229 [T/C] NM_001005280 OR10A7 EXON Missense_C141R exm1010417 12 55615300 [A/G] NM_001005280 OR10A7 EXON Missense_M164I exm1010419 12 55615305 [T/G] NM_001005280 OR10A7 EXON Missense_L166R exm1010423 12 55615349 [T/G] NM_001005280 OR10A7 EXON Missense_G181C exm2220779 12 55615410 [T/C] NM_001005280 OR10A7 EXON Missense_A201V exm2276250 12 55615589 [A/C] NM_001005280 OR10A7 EXON Synonymous_R261R exm1010438 12 55615679 [A/G] NM_001005280 OR10A7 EXON Missense_G291S exm1010442 12 55641075 [A/G] NM_001005490 OR6C74 EXON Missense_R2G exm1010452 12 55641295 [A/G] NM_001005490 OR6C74 EXON Missense_Y75C exm1010453 12 55641328 [A/G] NM_001005490 OR6C74 EXON Missense_G86D exm1010454 12 55641331 [T/A] NM_001005490 OR6C74 EXON Missense_D87V exm1010455 12 55641350 [A/C] NM_001005490 OR6C74 EXON Missense_N93K exm1010457 12 55641429 [T/C] NM_001005490 OR6C74 EXON Missense_R120C exm1010460 12 55641457 [A/G] NM_001005490 OR6C74 EXON Missense_H129R exm1010461 12 55641472 [T/C] NM_001005490 OR6C74 EXON Missense_M134T exm1010463 12 55641621 [A/C] NM_001005490 OR6C74 EXON Missense_Q184K exm1778544 12 55641750 [T/C] NM_001005490 OR6C74 EXON Missense_P227S exm1010469 12 55641811 [T/C] NM_001005490 OR6C74 EXON Missense_S247F exm1010475 12 55641937 [T/C] NM_001005490 OR6C74 EXON Missense_T289I exm1010476 12 55641959 [A/C] NM_001005490 OR6C74 EXON Missense_K296N exm1010481 12 55688172 [A/C] NM_001005493 OR6C6 EXON Nonsense_L282X exm1010482 12 55688178 [A/G] NM_001005493 OR6C6 EXON Missense_A280V exm1010483 12 55688193 [A/C] NM_001005493 OR6C6 EXON Missense_L275R exm1010488 12 55688337 [A/G] NM_001005493 OR6C6 EXON Missense_S227F exm1010489 12 55688409 [A/C] NM_001005493 OR6C6 EXON Missense_V203G exm1010490 12 55688418 [T/A] NM_001005493 OR6C6 EXON Nonsense_L200X exm1010491 12 55688448 [A/G] NM_001005493 OR6C6 EXON Missense_T190I exm1010492 12 55688454 [C/G] NM_001005493 OR6C6 EXON Missense_T188R exm1010498 12 55688703 [A/G] NM_001005493 OR6C6 EXON Missense_P105L exm1778554 12 55688817 [A/G] NM_001005493 OR6C6 EXON Missense_L67S exm1010503 12 55688827 [A/C] NM_001005493 OR6C6 EXON Missense_F64V exm1010504 12 55688829 [T/C] NM_001005493 OR6C6 EXON Missense_N63S exm2251072 12 55688858 [C/G] NM_001005493 OR6C6 EXON Synonymous_L53L exm1778555 12 55688858 [C/G] NM_001005493 OR6C6 EXON Synonymous_L53L exm1010507 12 55688866 [A/G] NM_001005493 OR6C6 EXON Missense_P51S exm1010509 12 55688881 [A/G] NM_001005493 OR6C6 EXON Missense_L46F exm1010510 12 55688894 [T/G] NM_001005493 OR6C6 EXON Missense_L41F exm1010511 12 55688895 [A/G] NM_001005493 OR6C6 EXON Missense_L41S exm1010513 12 55688910 [G/C] NM_001005493 OR6C6 EXON Missense_S36T exm1010515 12 55688928 [T/A] NM_001005493 OR6C6 EXON Missense_F30Y exm1010516 12 55688938 [C/G] NM_001005493 OR6C6 EXON Missense_L27V exm1010518 12 55688952 [T/G] NM_001005493 OR6C6 EXON Missense_Q22P exm1010535 12 55714443 [T/G] NM_001005182 OR6C1 EXON Missense_N20K exm1010538 12 55714478 [T/C] NM_001005182 OR6C1 EXON Missense_T32I exm2274595 12 55714483 [A/G] NM_001005182 OR6C1 EXON Missense_M34V exm1010546 12 55714603 [A/G] NM_001005182 OR6C1 EXON Missense_V74I exm1010551 12 55714741 [T/C] NM_001005182 OR6C1 EXON Missense_R120C exm1010552 12 55714742 [A/G] NM_001005182 OR6C1 EXON Missense_R120H exm1010557 12 55714772 [A/G] NM_001005182 OR6C1 EXON Missense_C130Y exm1010566 12 55714864 [T/C] NM_001005182 OR6C1 EXON Missense_L161F exm1010567 12 55714876 [G/C] NM_001005182 OR6C1 EXON Missense_H165D exm1010572 12 55715000 [T/C] NM_001005182 OR6C1 EXON Missense_M206T exm1010578 12 55715048 [T/C] NM_001005182 OR6C1 EXON Missense_T222I exm1010581 12 55715119 [A/G] NM_001005182 OR6C1 EXON Missense_V246I exm1010590 12 55715248 [A/C] NM_001005182 OR6C1 EXON Missense_S289R exm1010591 12 55715255 [A/G] NM_001005182 OR6C1 EXON Missense_R291K exm1010595 12 55715316 [A/C] NM_001005182 OR6C1 EXON Missense_S311R exm1010598 12 55725485 [A/G] NM_054104 OR6C3 EXON Missense_M1V exm1010610 12 55725690 [T/C] NM_054104 OR6C3 EXON Missense_S69L exm1010615 12 55725798 [C/G] NM_054104 OR6C3 EXON Missense_G105A exm1010619 12 55725882 [T/C] NM_054104 OR6C3 EXON Missense_M133T exm1010621 12 55725927 [C/G] NM_054104 OR6C3 EXON Missense_S148T exm1010630 12 55726064 [A/G] NM_054104 OR6C3 EXON Missense_V194I exm1010633 12 55726139 [A/T] NM_054104 OR6C3 EXON Missense_I219F exm1010634 12 55726184 [T/G] NM_054104 OR6C3 EXON Missense_A234S exm1010636 12 55726231 [A/T] NM_054104 OR6C3 EXON Nonsense_Y249X exm1010637 12 55726233 [A/G] NM_054104 OR6C3 EXON Missense_G250E exm2274596 12 55726326 [A/T] NM_054104 OR6C3 EXON Missense_M281K exm1010643 12 55726368 [A/T] NM_054104 OR6C3 EXON Missense_K295I exm1778586 12 55726373 [A/G] NM_054104 OR6C3 EXON Missense_A297T exm1010658 12 55759213 [A/G] NM_001005497 OR6C75 EXON Missense_V107M exm1010660 12 55759315 [T/C] NM_001005497 OR6C75 EXON Missense_L141F exm1010661 12 55759420 [A/G] NM_001005497 OR6C75 EXON Missense_I176V exm1010663 12 55759481 [T/C] NM_001005497 OR6C75 EXON Missense_M196T exm1778601 12 55759499 [T/C] NM_001005497 OR6C75 EXON Missense_V202A exm1010666 12 55759514 [T/C] NM_001005497 OR6C75 EXON Missense_V207A exm1010668 12 55759555 [T/C] NM_001005497 OR6C75 EXON Missense_R221W exm1010671 12 55759598 [A/C] NM_001005497 OR6C75 EXON Missense_A235D exm2264470 12 55766037 [A/C] exm1010685 12 55794350 [A/T] NM_001005518 OR6C65 EXON Missense_L13Q exm1010700 12 55794575 [A/C] NM_001005518 OR6C65 EXON Missense_T88K exm2251073 12 55794862 [T/C] NM_001005518 OR6C65 EXON Synonymous_L184L exm1010715 12 55794970 [T/C] NM_001005518 OR6C65 EXON Missense_L220F exm1010716 12 55794976 [A/G] NM_001005518 OR6C65 EXON Missense_T222A exm1010733 12 55820104 [A/G] NM_001005183 OR6C76 EXON Missense_V23I exm1010750 12 55820357 [T/C] NM_001005183 OR6C76 EXON Missense_T107M exm1010752 12 55820372 [T/G] NM_001005183 OR6C76 EXON Missense_L112R exm1010759 12 55820509 [A/G] NM_001005183 OR6C76 EXON Missense_A158T exm1010765 12 55820692 [A/G] NM_001005183 OR6C76 EXON Missense_I219V exm2220782 12 55820722 [T/C] NM_001005183 OR6C76 EXON Nonsense_Q229X exm1010769 12 55820794 [A/C] NM_001005183 OR6C76 EXON Missense_I253L exm1010773 12 55820927 [T/C] NM_001005183 OR6C76 EXON Missense_A297V exm1010788 12 55846125 [T/C] NM_054105 OR6C2 EXON Missense_I43T exm1010796 12 55846242 [A/G] NM_054105 OR6C2 EXON Missense_N82S exm2220783 12 55846433 [T/C] NM_054105 OR6C2 EXON Missense_C146R exm1010808 12 55846457 [A/G] NM_054105 OR6C2 EXON Missense_I154V exm1010813 12 55846538 [C/G] NM_054105 OR6C2 EXON Missense_P181A exm1010821 12 55846623 [T/C] NM_054105 OR6C2 EXON Missense_L209P exm1010826 12 55846728 [T/C] NM_054105 OR6C2 EXON Missense_I244T exm1010829 12 55846773 [A/G] NM_054105 OR6C2 EXON Missense_K259R exm1010831 12 55846794 [A/T] NM_054105 OR6C2 EXON Missense_V266E exm1010835 12 55846890 [T/C] NM_054105 OR6C2 EXON Missense_A298V exm1010837 12 55846916 [A/G] NM_054105 OR6C2 EXON Missense_A307T exm1010840 12 55862990 [C/G] NM_001005499 OR6C70 EXON Missense_D311E exm1010844 12 55863034 [A/G] NM_001005499 OR6C70 EXON Nonsense_Q297X exm1010848 12 55863112 [A/C] NM_001005499 OR6C70 EXON Nonsense_G271X exm1010849 12 55863138 [A/G] NM_001005499 OR6C70 EXON Missense_A262V exm1010852 12 55863224 [C/G] NM_001005499 OR6C70 EXON Missense_K233N exm1010856 12 55863381 [A/G] NM_001005499 OR6C70 EXON Missense_L181P exm1010861 12 55863537 [T/C] NM_001005499 OR6C70 EXON Missense_R129H exm1010864 12 55863552 [A/G] NM_001005499 OR6C70 EXON Missense_I124T exm1010866 12 55863559 [T/C] NM_001005499 OR6C70 EXON Missense_V122I exm1010870 12 55863616 [T/C] NM_001005499 OR6C70 EXON Missense_I103V exm1010873 12 55863706 [T/C] NM_001005499 OR6C70 EXON Missense_T73A exm1778646 12 55863900 [A/G] NM_001005499 OR6C70 EXON Missense_I8T exm1010881 12 55886196 [T/C] NM_001005519 OR6C68 EXON Missense_L12P exm1010888 12 55886379 [T/C] NM_001005519 OR6C68 EXON Missense_A73V exm2274597 12 55886433 [A/C] NM_001005519 OR6C68 EXON Missense_T91K exm1010896 12 55886487 [A/C] NM_001005519 OR6C68 EXON Missense_E109A exm1010898 12 55886507 [A/G] NM_001005519 OR6C68 EXON Missense_M116V exm1010909 12 55886720 [T/C] NM_001005519 OR6C68 EXON Missense_C187R exm1010918 12 55886883 [T/C] NM_001005519 OR6C68 EXON Missense_S241L exm1010920 12 55886913 [A/G] NM_001005519 OR6C68 EXON Missense_G251D exm1010926 12 55886984 [T/C] NM_001005519 OR6C68 EXON Missense_L275F exm1010930 12 55887054 [G/C] NM_001005519 OR6C68 EXON Missense_A298G exm1010931 12 55887080 [C/G] NM_001005519 OR6C68 EXON Missense_A307P exm1010933 12 55887087 [T/G] NM_001005519 OR6C68 EXON Missense_R309L exm1010934 12 55887095 [A/T] NM_001005519 OR6C68 EXON Nonsense_K312X exm2260090 12 55894216 [T/C] exm1010941 12 55945119 [A/G] NM_001005494 OR6C4 EXON Missense_I37V exm1010945 12 55945219 [T/C] NM_001005494 OR6C4 EXON Missense_S70F exm1010948 12 55945257 [A/G] NM_001005494 OR6C4 EXON Missense_M83V exm1010949 12 55945258 [T/C] NM_001005494 OR6C4 EXON Missense_M83T exm1778655 12 55945335 [A/G] NM_001005494 OR6C4 EXON Missense_E109K exm1010956 12 55945400 [A/C] NM_001005494 OR6C4 EXON Nonsense_Y130X exm1010958 12 55945414 [A/G] NM_001005494 OR6C4 EXON Missense_S135N exm1010959 12 55945431 [A/C] NM_001005494 OR6C4 EXON Missense_Q141K exm2220787 12 55945450 [A/G] NM_001005494 OR6C4 EXON Nonsense_W147X exm1010960 12 55945467 [A/G] NM_001005494 OR6C4 EXON Missense_A153T exm1010963 12 55945516 [A/C] NM_001005494 OR6C4 EXON Missense_S169Y exm1778660 12 55945546 [A/G] NM_001005494 OR6C4 EXON Missense_Y179C exm1010971 12 55945623 [T/C] NM_001005494 OR6C4 EXON Missense_L205F exm1010972 12 55945689 [T/C] NM_001005494 OR6C4 EXON Missense_P227S exm1010973 12 55945698 [A/C] NM_001005494 OR6C4 EXON Missense_Q230K exm1010976 12 55945816 [A/T] NM_001005494 OR6C4 EXON Missense_N269I exm1010979 12 55945876 [C/G] NM_001005494 OR6C4 EXON Missense_T289S exm1010980 12 55945899 [T/C] NM_001005494 OR6C4 EXON Nonsense_Q297X exm1010989 12 56030812 [T/C] NM_206899 OR10P1 EXON Missense_I46T exm1010999 12 56030938 [T/C] NM_206899 OR10P1 EXON Missense_P88L exm1011005 12 56031036 [T/C] NM_206899 OR10P1 EXON Missense_Y121H exm1011006 12 56031042 [T/C] NM_206899 OR10P1 EXON Nonsense_R123X exm2220788 12 56031054 [A/G] NM_206899 OR10P1 EXON Missense_I127V exm1778679 12 56031058 [T/G] NM_206899 OR10P1 EXON Missense_C128F exm1011012 12 56031102 [A/G] NM_206899 OR10P1 EXON Missense_M143V exm1011018 12 56031191 [C/G] NM_206899 OR10P1 EXON Missense_H172Q exm1011021 12 56031264 [A/G] NM_206899 OR10P1 EXON Missense_E197K exm1011022 12 56031273 [A/G] NM_206899 OR10P1 EXON Missense_V200M exm1011025 12 56031318 [T/A] NM_206899 OR10P1 EXON Missense_I215F exm1011032 12 56031460 [A/G] NM_206899 OR10P1 EXON Missense_R262Q exm1011034 12 56031493 [A/G] NM_206899 OR10P1 EXON Missense_R273H exm1011043 12 56075594 [T/A] NM_152637 METTL7B EXON Missense_L19Q exm1011044 12 56075599 [T/C] NM_152637 METTL7B EXON Missense_L21F exm-IND12-54361914 12 56075648 [I/D] NM_152637 METTL7B EXON exm1778690 12 56075683 [T/C] NM_152637 METTL7B EXON Missense_R49C exm1011048 12 56075756 [T/C] NM_152637 METTL7B EXON Missense_A73V exm1011049 12 56075765 [A/T] NM_152637 METTL7B EXON Missense_E76V exm1011050 12 56075776 [T/G] NM_152637 METTL7B EXON Nonsense_G80X exm1011054 12 56075840 [T/C] NM_152637 METTL7B EXON Missense_P101L exm1011059 12 56075915 [A/C] NM_152637 METTL7B EXON Missense_P126H exm1011064 12 56076019 [T/C] NM_152637 METTL7B EXON Missense_R161W exm1011068 12 56077603 [A/G] NM_152637 METTL7B EXON Missense_V169M exm1011069 12 56077618 [A/G] NM_152637 METTL7B EXON Missense_E174K exm1011077 12 56077768 [T/C] NM_152637 METTL7B EXON Nonsense_R224X exm1011078 12 56077769 [T/G] NM_152637 METTL7B EXON Missense_R224L exm1011083 12 56077816 [A/G] NM_152637 METTL7B EXON Missense_G240R exm1011092 12 56078933 [T/C] NM_002206,NM_001144997,NM_001144996 ITGA7,ITGA7,ITGA7 EXON Missense_R1108Q,Missense_R1015Q,Missense_R1112Q exm1011100 12 56078988 [A/G] NM_002206,NM_001144997,NM_001144996 ITGA7,ITGA7,ITGA7 EXON Nonsense_Q1090X,Nonsense_Q997X,Nonsense_Q1094X exm1011105 12 56079053 [A/G] NM_002206,NM_001144997,NM_001144996 ITGA7,ITGA7,ITGA7 EXON Missense_A1068V,Missense_A975V,Missense_A1072V exm1778709 12 56082041 [T/A] NM_002206,NM_001144997,NM_001144996 ITGA7,ITGA7,ITGA7 EXON Missense_N1001I,Missense_N908I,Missense_N1005I exm1011125 12 56082654 [A/G] NM_002206,NM_001144997,NM_001144996 ITGA7,ITGA7,ITGA7 EXON Missense_R978C,Missense_R885C,Missense_R982C exm1011126 12 56082677 [A/G] NM_002206,NM_001144997,NM_001144996 ITGA7,ITGA7,ITGA7 EXON Missense_A970V,Missense_A877V,Missense_A974V exm1011132 12 56086735 [A/G] NM_002206,NM_001144997,NM_001144996 ITGA7,ITGA7,ITGA7 EXON Missense_R913W,Missense_R820W,Missense_R917W exm1011140 12 56086986 [T/A] NM_002206,NM_001144997,NM_001144996 ITGA7,ITGA7,ITGA7 EXON Missense_E884V,Missense_E791V,Missense_E888V exm1011141 12 56086993 [T/C] NM_002206,NM_001144997,NM_001144996 ITGA7,ITGA7,ITGA7 EXON Missense_E882K,Missense_E789K,Missense_E886K exm1011144 12 56087068 [T/C] NM_002206,NM_001144997,NM_001144996 ITGA7,ITGA7,ITGA7 EXON Missense_G857S,Missense_G764S,Missense_G861S exm1011155 12 56088071 [T/C] NM_002206,NM_001144997,NM_001144996 ITGA7,ITGA7,ITGA7 EXON Missense_V801I,Missense_V708I,Missense_V805I exm1011156 12 56088073 [T/C] NM_002206,NM_001144997,NM_001144996 ITGA7,ITGA7,ITGA7 EXON Missense_R800H,Missense_R707H,Missense_R804H exm1011161 12 56088291 [T/C] NM_002206,NM_001144997,NM_001144996 ITGA7,ITGA7,ITGA7 EXON Missense_I765V,Missense_I672V,Missense_I769V exm1011162 12 56088407 [A/C] NM_002206,NM_001144997,NM_001144996 ITGA7,ITGA7,ITGA7 EXON Missense_G757C,Missense_G664C,Missense_G761C exm1011164 12 56088612 [T/G] NM_002206,NM_001144997,NM_001144996 ITGA7,ITGA7,ITGA7 EXON Missense_M716L,Missense_M623L,Missense_M720L exm1011170 12 56088671 [A/G] NM_002206,NM_001144997,NM_001144996 ITGA7,ITGA7,ITGA7 EXON Missense_S696L,Missense_S603L,Missense_S700L exm1011172 12 56088723 [T/G] NM_002206,NM_001144997,NM_001144996 ITGA7,ITGA7,ITGA7 EXON Missense_L679M,Missense_L586M,Missense_L683M exm1011180 12 56089357 [T/C] NM_002206,NM_001144997,NM_001144996 ITGA7,ITGA7,ITGA7 EXON Missense_R651H,Missense_R558H,Missense_R655H exm1011187 12 56090153 [A/G] NM_002206,NM_001144997,NM_001144996 ITGA7,ITGA7,ITGA7 EXON Missense_R601W,Missense_R508W,Missense_R605W exm1011194 12 56090715 [A/G] NM_002206,NM_001144997,NM_001144996 ITGA7,ITGA7,ITGA7 EXON Nonsense_R569X,Nonsense_R476X,Nonsense_R573X exm1011195 12 56090739 [T/C] NM_002206,NM_001144997,NM_001144996 ITGA7,ITGA7,ITGA7 EXON Missense_V561M,Missense_V468M,Missense_V565M exm1011202 12 56090803 [A/C] NM_002206,NM_001144997,NM_001144996 ITGA7,ITGA7,ITGA7 EXON Missense_Q539H,Missense_Q446H,Missense_Q543H exm1011204 12 56090811 [A/G] NM_002206,NM_001144997,NM_001144996 ITGA7,ITGA7,ITGA7 EXON Missense_R537W,Missense_R444W,Missense_R541W exm1011205 12 56090814 [A/G] NM_002206,NM_001144997,NM_001144996 ITGA7,ITGA7,ITGA7 EXON Missense_L536F,Missense_L443F,Missense_L540F exm1011207 12 56090831 [A/G] NM_002206,NM_001144997,NM_001144996 ITGA7,ITGA7,ITGA7 EXON Missense_A530V,Missense_A437V,Missense_A534V exm1011209 12 56090843 [T/C] NM_002206,NM_001144997,NM_001144996 ITGA7,ITGA7,ITGA7 EXON Missense_Y526C,Missense_Y433C,Missense_Y530C exm1778743 12 56091276 [A/G] NM_002206,NM_001144997,NM_001144996 ITGA7,ITGA7,ITGA7 EXON Synonymous_I488I,Synonymous_I395I,Synonymous_I492I exm1011223 12 56091501 [T/C] NM_002206,NM_001144997,NM_001144996 ITGA7,ITGA7,ITGA7 EXON Missense_A463T,Missense_A370T,Missense_A467T exm1011227 12 56091605 [A/G] NM_002206,NM_001144997,NM_001144996 ITGA7,ITGA7,ITGA7 EXON Missense_V428A,Missense_V335A,Missense_V432A exm1011230 12 56091754 [T/C] NM_002206,NM_001144997,NM_001144996 ITGA7,ITGA7,ITGA7 EXON Missense_S417G,Missense_S324G,Missense_S421G exm1011247 12 56092567 [A/C] NM_002206,NM_001144997,NM_001144996 ITGA7,ITGA7,ITGA7 EXON Missense_V309F,Missense_V216F,Missense_V313F exm1778753 12 56092600 [A/G] NM_002206,NM_001144997,NM_001144996 ITGA7,ITGA7,ITGA7 EXON Missense_R298C,Missense_R205C,Missense_R302C exm1011253 12 56092668 [T/C] NM_002206,NM_001144997,NM_001144996 ITGA7,ITGA7,ITGA7 EXON Missense_R275H,Missense_R182H,Missense_R279H exm1011269 12 56094743 [T/C] NM_002206,NM_001144997,NM_001144996 ITGA7,ITGA7,ITGA7 EXON Missense_A204T,Missense_A107T,Missense_A204T exm1011284 12 56094894 [G/C] NM_002206,NM_001144997,NM_001144996 ITGA7,ITGA7,ITGA7 EXON Missense_I153M,Missense_I56M,Missense_I153M exm1011293 12 56096730 [T/C] NM_002206,NM_001144997,NM_001144996 ITGA7,ITGA7,ITGA7 EXON Missense_M114V,Silent,Missense_M114V exm1011296 12 56096885 [A/G] NM_002206,NM_001144997,NM_001144996 ITGA7,ITGA7,ITGA7 EXON Missense_P95L,Silent,Missense_P95L exm1011298 12 56096910 [A/G] NM_002206,NM_001144997,NM_001144996 ITGA7,ITGA7,ITGA7 EXON Missense_R87C,Silent,Missense_R87C exm1011304 12 56101328 [T/C] NM_002206,NM_001144997,NM_001144996 ITGA7,ITGA7,ITGA7 EXON Missense_E47K,Silent,Missense_E47K exm1011310 12 56101421 [A/C] NM_002206,NM_001144997,NM_001144996 ITGA7,ITGA7,ITGA7 EXON Missense_C16G,Silent,Missense_C16G exm1011313 12 56105894 [A/G] NM_001144997 ITGA7 EXON Missense_T13I exm1011325-other 12 56109979 [A/G] NR_037658,NM_001487,NR_037655 BLOC1S1-RDH5,BLOC1S1,BLOC1S1 EXON Silent,Synonymous_Q48Q,Silent exm1011325 12 56109979 [A/G] NR_037658,NM_001487,NR_037655 BLOC1S1-RDH5,BLOC1S1,BLOC1S1 EXON Silent,Synonymous_Q48Q,Silent exm1011326 12 56110773 [A/G] NR_037658,NM_001487,NR_037655,NR_037657,NR_037656 BLOC1S1-RDH5,BLOC1S1,BLOC1S1,BLOC1S1,BLOC1S1 EXON Silent,Missense_D68N,Silent,Silent,Silent exm1011338 12 56115065 [A/G] NR_037658,NM_001199771,NM_002905 BLOC1S1-RDH5,RDH5,RDH5 EXON Silent,Missense_I33V,Missense_I33V exm1011347 12 56115192 [A/G] NR_037658,NM_001199771,NM_002905 BLOC1S1-RDH5,RDH5,RDH5 EXON Silent,Missense_R75H,Missense_R75H exm1011349 12 56115233 [A/G] NR_037658,NM_001199771,NM_002905 BLOC1S1-RDH5,RDH5,RDH5 EXON Silent,Missense_V89I,Missense_V89I exm1011351 12 56115266 [A/G] NR_037658,NM_001199771,NM_002905 BLOC1S1-RDH5,RDH5,RDH5 EXON Silent,Missense_V100I,Missense_V100I exm1011366 12 56115643 [A/G] NR_037658,NM_001199771,NM_002905 BLOC1S1-RDH5,RDH5,RDH5 EXON Silent,Missense_I161V,Missense_I161V exm1011367 12 56115662 [A/G] NR_037658,NM_001199771,NM_002905 BLOC1S1-RDH5,RDH5,RDH5 EXON Silent,Missense_R167H,Missense_R167H exm2220796 12 56117696 [A/G] NR_037658,NM_001199771,NM_002905 BLOC1S1-RDH5,RDH5,RDH5 EXON Silent,Missense_R199Q,Missense_R199Q exm1011377 12 56117812 [T/G] NR_037658,NM_001199771,NM_002905 BLOC1S1-RDH5,RDH5,RDH5 EXON Silent,Missense_G238W,Missense_G238W exm1011384 12 56118210 [T/C] NR_037658,NM_001199771,NM_002905 BLOC1S1-RDH5,RDH5,RDH5 EXON Silent,Missense_R280C,Missense_R280C exm1011386 12 56118295 [A/G] NR_037658,NM_001199771,NM_002905 BLOC1S1-RDH5,RDH5,RDH5 EXON Silent,Nonsense_W308X,Nonsense_W308X exm1011406 12 56120552 [A/G] NM_001780,NM_001257400,NM_001257389,NM_001267698,NM_001257391,NM_001257392,NM_001257390,NM_001257401 CD63,CD63,CD63,CD63,CD63,CD63,CD63,CD63 EXON Missense_R120W,Missense_R38W,Missense_R120W,Missense_R120W,Missense_R120W,Missense_R97W,Missense_R120W,Missense_R38W exm1011413 12 56120740 [C/G] NM_001780,NM_001257400,NM_001257389,NM_001267698,NM_001257391,NM_001257392,NM_001257390,NM_001257401 CD63,CD63,CD63,CD63,CD63,CD63,CD63,CD63 EXON Missense_I88M,Missense_I6M,Missense_I88M,Missense_I88M,Missense_I88M,Missense_I65M,Missense_I88M,Missense_I6M exm1778803 12 56121099 [T/C] NM_001780,NM_001257400,NM_001257389,NM_001267698,NM_001257391,NM_001257392,NM_001257390,NM_001257401 CD63,CD63,CD63,CD63,CD63,CD63,CD63,CD63 EXON Missense_V31M,Silent,Missense_V31M,Missense_V31M,Missense_V31M,Silent,Missense_V31M,Silent exm1011429 12 56137479 [A/G] NM_005811 GDF11 EXON Missense_E127K exm1011435 12 56142553 [T/G] NM_005811 GDF11 EXON Missense_G210V exm1011461 12 56184352 [A/G] NR_026723,NR_026722,NM_033082 SARNP,SARNP,SARNP EXON Silent,Silent,Missense_M144T exm1011464 12 56188149 [T/C] NR_026723,NR_026722,NM_033082 SARNP,SARNP,SARNP EXON Silent,Silent,Missense_T134A exm1011493 12 56212940 [A/C] NM_014182 ORMDL2 EXON Missense_N53H exm1011497 12 56213186 [A/G] NM_014182 ORMDL2 EXON Missense_K79E exm1011511 12 56215891 [T/C] NM_032364 DNAJC14 EXON Missense_N660S exm1011532 12 56221294 [T/A] NM_032364 DNAJC14 EXON Missense_D383E exm1011537 12 56221464 [C/G] NM_032364 DNAJC14 EXON Missense_L327V exm1011538 12 56221528 [A/C] NM_032364 DNAJC14 EXON Missense_M305I exm1011545 12 56221752 [T/C] NM_032364 DNAJC14 EXON Missense_D231N exm1011553 12 56221844 [T/C] NM_032364 DNAJC14 EXON Missense_R200H exm1011555 12 56221962 [T/C] NM_032364 DNAJC14 EXON Missense_A161T exm2274598 12 56222159 [A/G] NM_032364 DNAJC14 EXON Missense_T95M exm1778882 12 56222171 [T/C] NM_032364 DNAJC14 EXON Missense_D91G exm1011575 12 56230846 [T/C] NM_001272101,NM_002429,NR_073606 MMP19,MMP19,MMP19 EXON Silent,Missense_A501T,Silent exm1011576 12 56230848 [A/G] NM_001272101,NM_002429,NR_073606 MMP19,MMP19,MMP19 EXON Silent,Missense_S500L,Silent exm1011579 12 56230897 [T/C] NM_001272101,NM_002429,NR_073606 MMP19,MMP19,MMP19 EXON Silent,Missense_G484R,Silent exm1011587 12 56230980 [T/C] NM_001272101,NM_002429,NR_073606 MMP19,MMP19,MMP19 EXON Silent,Missense_R456Q,Silent exm1011588 12 56230998 [T/C] NM_001272101,NM_002429,NR_073606 MMP19,MMP19,MMP19 EXON Silent,Missense_R450H,Silent exm1011590 12 56231008 [T/C] NM_001272101,NM_002429,NR_073606 MMP19,MMP19,MMP19 EXON Silent,Missense_V447I,Silent exm1778888 12 56231031 [T/C] NM_001272101,NM_002429,NR_073606 MMP19,MMP19,MMP19 EXON Silent,Missense_R439Q,Silent exm1011597 12 56231152 [T/C] NM_001272101,NM_002429,NR_073606 MMP19,MMP19,MMP19 EXON Silent,Missense_G399R,Silent exm1011602 12 56231386 [C/G] NM_001272101,NM_002429,NR_073606 MMP19,MMP19,MMP19 EXON Silent,Missense_D381H,Silent exm1011603 12 56231389 [C/G] NM_001272101,NM_002429,NR_073606 MMP19,MMP19,MMP19 EXON Silent,Missense_L380V,Silent exm1011605 12 56231424 [A/C] NM_001272101,NM_002429,NR_073606 MMP19,MMP19,MMP19 EXON Silent,Missense_G368V,Silent exm1011607 12 56231452 [A/G] NM_001272101,NM_002429,NR_073606 MMP19,MMP19,MMP19 EXON Silent,Missense_R359C,Silent exm1011617 12 56231768 [A/G] NM_001272101,NM_002429,NR_073606 MMP19,MMP19,MMP19 EXON Missense_F260S,Missense_F307L,Silent exm1011626 12 56233305 [T/A] NM_001272101,NM_002429,NR_073606 MMP19,MMP19,MMP19 EXON Silent,Missense_D247E,Silent exm1011627 12 56233313 [A/G] NM_001272101,NM_002429,NR_073606 MMP19,MMP19,MMP19 EXON Silent,Missense_P245S,Silent exm1011633 12 56233376 [A/G] NM_001272101,NM_002429,NR_073606 MMP19,MMP19,MMP19 EXON Silent,Nonsense_R224X,Silent exm1011643 12 56234480 [A/G] NM_001272101,NM_002429,NR_073606 MMP19,MMP19,MMP19 EXON Missense_S164L,Missense_S164L,Silent exm1011645 12 56234499 [A/G] NM_001272101,NM_002429,NR_073606 MMP19,MMP19,MMP19 EXON Missense_F158L,Missense_F158L,Silent exm1011651 12 56234552 [A/G] NM_001272101,NM_002429,NR_073606 MMP19,MMP19,MMP19 EXON Missense_A140V,Missense_A140V,Silent exm1011652 12 56234594 [T/C] NM_001272101,NM_002429,NR_073606 MMP19,MMP19,MMP19 EXON Missense_R126Q,Missense_R126Q,Silent exm1011658 12 56234664 [A/G] NM_001272101,NM_002429,NR_073606 MMP19,MMP19,MMP19 EXON Missense_R103C,Missense_R103C,Silent exm1011659 12 56234946 [A/G] NM_001272101,NM_002429,NR_073606 MMP19,MMP19,MMP19 EXON Missense_P83L,Missense_P83L,Silent exm1011661 12 56236136 [T/C] NM_001272101,NM_002429,NR_073606 MMP19,MMP19,MMP19 Silent,Silent,Silent exm1011668 12 56236559 [T/C] NM_001272101,NM_002429,NR_073606 MMP19,MMP19,MMP19 EXON Missense_R19Q,Missense_R19Q,Silent exm1011672 12 56236594 [T/C] NM_001272101,NM_002429,NR_073606 MMP19,MMP19,MMP19 EXON Nonsense_W7X,Nonsense_W7X,Silent exm1011674 12 56236602 [A/G] NM_001272101,NM_002429,NR_073606 MMP19,MMP19,MMP19 EXON Nonsense_Q5X,Nonsense_Q5X,Silent exm2267439 12 56241955 [A/G] exm1011694 12 56296075 [G/C] NM_032345,NM_001143853 WIBG,WIBG EXON Missense_E66Q,Missense_E65Q exm1011707 12 56331777 [A/G] NM_001345,NM_201554,NM_201444,NM_201445 DGKA,DGKA,DGKA,DGKA EXON Missense_N97S,Missense_N97S,Missense_N97S,Missense_N97S exm1011730 12 56334185 [A/G] NM_001345,NM_201554,NM_201444,NM_201445 DGKA,DGKA,DGKA,DGKA EXON Missense_T296A,Missense_T296A,Missense_T296A,Missense_T296A exm1011732 12 56334463 [A/G] NM_001345,NM_201554,NM_201444,NM_201445 DGKA,DGKA,DGKA,DGKA EXON Missense_R325Q,Missense_R325Q,Missense_R325Q,Missense_R325Q exm1011734 12 56334704 [T/G] NM_001345,NM_201554,NM_201444,NM_201445 DGKA,DGKA,DGKA,DGKA EXON Missense_N347K,Missense_N347K,Missense_N347K,Missense_N347K exm1011755 12 56345408 [T/G] NM_001345,NM_201554,NM_201444,NM_201445 DGKA,DGKA,DGKA,DGKA EXON Synonymous_G476G,Synonymous_G476G,Synonymous_G476G,Synonymous_G476G exm1011761 12 56345541 [A/G] NM_001345,NM_201554,NM_201444,NM_201445 DGKA,DGKA,DGKA,DGKA EXON Missense_I521V,Missense_I521V,Missense_I521V,Missense_I521V exm1011764 12 56345847 [T/G] NM_001345,NM_201554,NM_201444,NM_201445 DGKA,DGKA,DGKA,DGKA EXON Missense_I539S,Missense_I539S,Missense_I539S,Missense_I539S exm1011775 12 56346710 [A/G] NM_001345,NM_201554,NM_201444,NM_201445 DGKA,DGKA,DGKA,DGKA EXON Missense_V646I,Missense_V646I,Missense_V646I,Missense_V646I exm1011802 12 56349118 [A/G] NM_006928,NM_001200053,NM_001200054 PMEL,PMEL,PMEL EXON Missense_P597L,Missense_P511L,Missense_P604L exm1011803 12 56349121 [A/G] NM_006928,NM_001200053,NM_001200054 PMEL,PMEL,PMEL EXON Missense_V596A,Missense_V510A,Missense_V603A exm1011806 12 56349325 [A/G] NM_006928,NM_001200053,NM_001200054 PMEL,PMEL,PMEL EXON Missense_S562L,Missense_S476L,Missense_S562L exm1011817 12 56349606 [T/C] NM_006928,NM_001200053,NM_001200054 PMEL,PMEL,PMEL EXON Missense_G505S,Missense_G419S,Missense_G505S exm1778979 12 56349938 [T/C] NM_006928,NM_001200053,NM_001200054 PMEL,PMEL,PMEL EXON Missense_D474N,Missense_D388N,Missense_D474N exm1011830 12 56350747 [A/G] NM_006928,NM_001200053,NM_001200054 PMEL,PMEL,PMEL EXON Missense_T447M,Missense_T361M,Missense_T447M exm1011831 12 56350757 [T/C] NM_006928,NM_001200053,NM_001200054 PMEL,PMEL,PMEL EXON Missense_I444V,Missense_I358V,Missense_I444V exm1011838 12 56350921 [A/G] NM_006928,NM_001200053,NM_001200054 PMEL,PMEL,PMEL EXON Missense_L389P,Missense_L303P,Missense_L389P exm1011839 12 56350977 [G/C] NM_006928,NM_001200053,NM_001200054 PMEL,PMEL,PMEL EXON Missense_E370D,Missense_E284D,Missense_E370D exm1011840 12 56351000 [A/G] NM_006928,NM_001200053,NM_001200054 PMEL,PMEL,PMEL EXON Missense_P363S,Missense_P277S,Missense_P363S exm1011841 12 56351002 [A/G] NM_006928,NM_001200053,NM_001200054 PMEL,PMEL,PMEL EXON Missense_A362V,Missense_A276V,Missense_A362V exm1011850 12 56351128 [T/G] NM_006928,NM_001200053,NM_001200054 PMEL,PMEL,PMEL EXON Missense_P320H,Missense_P234H,Missense_P320H exm1011851 12 56351197 [T/G] NM_006928,NM_001200053,NM_001200054 PMEL,PMEL,PMEL EXON Missense_P297H,Missense_P211H,Missense_P297H exm1011861 12 56351360 [A/G] NM_006928,NM_001200053,NM_001200054 PMEL,PMEL,PMEL EXON Nonsense_Q243X,Nonsense_Q157X,Nonsense_Q243X exm1011864 12 56351401 [T/C] NM_006928,NM_001200053,NM_001200054 PMEL,PMEL,PMEL EXON Missense_N229S,Missense_N143S,Missense_N229S exm1011867 12 56351428 [A/G] NM_006928,NM_001200053,NM_001200054 PMEL,PMEL,PMEL EXON Missense_S220F,Missense_S134F,Missense_S220F exm1011871 12 56351763 [T/C] NM_006928,NM_001200053,NM_001200054 PMEL,PMEL,PMEL EXON Missense_R192Q,Missense_R106Q,Missense_R192Q exm1011872 12 56351764 [A/G] NM_006928,NM_001200053,NM_001200054 PMEL,PMEL,PMEL EXON Missense_R192W,Missense_R106W,Missense_R192W exm1011874 12 56351790 [A/G] NM_006928,NM_001200053,NM_001200054 PMEL,PMEL,PMEL EXON Missense_T183I,Missense_T97I,Missense_T183I exm1011886 12 56355143 [A/G] NM_006928,NM_001200053,NM_001200054 PMEL,PMEL,PMEL EXON Missense_P98S,Silent,Missense_P98S exm1011887 12 56355218 [T/C] NM_006928,NM_001200053,NM_001200054 PMEL,PMEL,PMEL EXON Missense_D73N,Silent,Missense_D73N exm1011897 12 56355497 [A/C] NM_006928,NM_001200053,NM_001200054 PMEL,PMEL,PMEL EXON Missense_W32C,Silent,Missense_W32C exm1011901 12 56360801 [A/C] NM_001798,NM_052827 CDK2,CDK2 EXON Missense_N3K,Missense_N3K exm2274599 12 56364973 [A/G] NM_001798,NM_052827 CDK2,CDK2 EXON Missense_R245Q,Missense_R211Q exm1011928 12 56365381 [C/G] NM_001798,NM_052827 CDK2,CDK2 EXON Missense_T290S,Missense_T256S exm1011938 12 56383856 [A/G] NM_001252036,NM_001252037,NM_002868 RAB5B,RAB5B,RAB5B EXON Missense_I97V,Missense_I97V,Missense_I97V exm1011956 12 56396395 [A/G] NM_000456,NM_001032386,NM_001032387 SUOX,SUOX,SUOX EXON Missense_R40H,Missense_R40H,Missense_R40H exm1011962 12 56396504 [T/G] NM_000456,NM_001032386,NM_001032387 SUOX,SUOX,SUOX EXON Missense_R76S,Missense_R76S,Missense_R76S exm1011976 12 56397643 [T/C] NM_000456,NM_001032386,NM_001032387 SUOX,SUOX,SUOX EXON Missense_I157T,Missense_I157T,Missense_I157T exm1011979 12 56397747 [T/C] NM_000456,NM_001032386,NM_001032387 SUOX,SUOX,SUOX EXON Missense_R192W,Missense_R192W,Missense_R192W exm1011984 12 56397802 [T/C] NM_000456,NM_001032386,NM_001032387 SUOX,SUOX,SUOX EXON Missense_P210L,Missense_P210L,Missense_P210L exm1011997 12 56398119 [A/G] NM_000456,NM_001032386,NM_001032387 SUOX,SUOX,SUOX EXON Missense_V316I,Missense_V316I,Missense_V316I exm1011998 12 56398141 [T/C] NM_000456,NM_001032386,NM_001032387 SUOX,SUOX,SUOX EXON Missense_S323L,Missense_S323L,Missense_S323L exm1012003 12 56398335 [A/C] NM_000456,NM_001032386,NM_001032387 SUOX,SUOX,SUOX EXON Missense_P388T,Missense_P388T,Missense_P388T exm1012015 12 56398470 [T/C] NM_000456,NM_001032386,NM_001032387 SUOX,SUOX,SUOX EXON Missense_R433W,Missense_R433W,Missense_R433W exm1012016 12 56398471 [A/G] NM_000456,NM_001032386,NM_001032387 SUOX,SUOX,SUOX EXON Missense_R433Q,Missense_R433Q,Missense_R433Q exm1012017 12 56398479 [A/G] NM_000456,NM_001032386,NM_001032387 SUOX,SUOX,SUOX EXON Missense_E436K,Missense_E436K,Missense_E436K exm1012019 12 56398500 [T/G] NM_000456,NM_001032386,NM_001032387 SUOX,SUOX,SUOX EXON Missense_V443L,Missense_V443L,Missense_V443L exm1012022 12 56398531 [A/G] NM_000456,NM_001032386,NM_001032387 SUOX,SUOX,SUOX EXON Missense_G453D,Missense_G453D,Missense_G453D exm-rs1701704 12 56412487 [T/G] exm1779041 12 56415293 [A/G] NM_022465 IKZF4 EXON Missense_A6T exm1012035 12 56415294 [T/C] NM_022465 IKZF4 EXON Missense_A6V exm1012038 12 56415317 [A/G] NM_022465 IKZF4 EXON Missense_G14S exm1012041 12 56415344 [T/C] NM_022465 IKZF4 EXON Missense_H23Y exm1012043 12 56415348 [A/G] NM_022465 IKZF4 EXON Missense_R24Q exm1012046 12 56417516 [A/G] NM_022465 IKZF4 EXON Missense_N50S exm1012067 12 56426476 [A/G] NM_022465 IKZF4 EXON Missense_A283T exm1012070 12 56427034 [A/G] NM_022465 IKZF4 EXON Missense_R309Q exm1012073 12 56428356 [T/C] NM_022465 IKZF4 EXON Synonymous_G333G exm1012076 12 56428403 [A/C] NM_022465 IKZF4 EXON Missense_N349T exm1012090 12 56428849 [A/G] NM_022465 IKZF4 EXON Missense_D498N exm1012121 12 56437277 [A/G] NM_001029 RPS26 EXON Synonymous_A104A exm-rs12580100 12 56439209 [A/G] exm-rs11171739 12 56470625 [T/C] exm1012129 12 56477541 [T/C] NM_001982,NM_001005915 ERBB3,ERBB3 EXON Missense_P30L,Missense_P30L exm1012141 12 56479008 [T/C] NM_001982,NM_001005915 ERBB3,ERBB3 EXON Silent,Missense_A155V exm2220814 12 56479088 [A/G] NM_001982,NM_001005915 ERBB3,ERBB3 EXON Silent,Missense_A182T exm1012155 12 56480402 [A/G] NM_001982 ERBB3 EXON Missense_R170Q exm1012160 12 56481424 [T/C] NM_001982 ERBB3 EXON Missense_T204I exm1012165 12 56481925 [A/G] NM_001982 ERBB3 EXON Missense_V285I exm-rs2292239 12 56482180 [T/G] NM_001982 ERBB3 Silent exm1012175 12 56482649 [A/G] NM_001982 ERBB3 EXON Missense_N369S exm1012176 12 56486575 [A/G] NM_001982 ERBB3 EXON Missense_N385S exm1012181 12 56486839 [A/T] NM_001982 ERBB3 EXON Missense_I418N exm1012188 12 56487212 [A/G] NM_001982 ERBB3 EXON Missense_R453H exm1012192 12 56487323 [A/G] NM_001982 ERBB3 EXON Missense_R490H exm1779110 12 56487560 [T/A] NM_001982 ERBB3 EXON Missense_K498I exm1012193 12 56487605 [A/G] NM_001982 ERBB3 EXON Missense_G513D exm1012221 12 56489582 [T/C] NM_001982 ERBB3 EXON Missense_R683W exm1012226 12 56490381 [T/C] NM_001982 ERBB3 EXON Missense_S717L exm1779124 12 56490398 [C/G] NM_001982 ERBB3 EXON Missense_V723L exm2274601 12 56490893 [A/G] NM_001982 ERBB3 EXON Missense_G780E exm1012231 12 56490937 [C/G] NM_001982 ERBB3 EXON Missense_L795V exm1012251 12 56493677 [A/G] NM_001982 ERBB3 EXON Missense_K998R exm1012253 12 56493755 [A/C] NM_001982 ERBB3 EXON Missense_T1024N exm1012259 12 56494029 [A/G] NM_001982 ERBB3 EXON Synonymous_Q1067Q exm1012261 12 56494872 [T/C] NM_001982 ERBB3 EXON Missense_R1077W exm1012263 12 56494932 [T/C] NM_001982 ERBB3 EXON Missense_S1097P exm2220819 12 56495023 [A/G] NM_001982 ERBB3 EXON Missense_R1127H exm1012276 12 56495328 [A/G] NM_001982 ERBB3 EXON Missense_R1173Q exm1012278 12 56495339 [A/C] NM_001982 ERBB3 EXON Missense_L1177I exm2251078 12 56495398 [A/G] NM_001982 ERBB3 EXON Synonymous_E1196E exm1012287 12 56495621 [A/G] NM_001982 ERBB3 EXON Missense_G1271S exm1012293 12 56495798 [T/C] NM_001982 ERBB3 EXON Missense_H1330Y exm1012294 12 56495813 [T/C] NM_001982 ERBB3 EXON Missense_P1335S exm1012296 12 56495835 [T/C] NM_001982 ERBB3 EXON Missense_T1342M exm1012331 12 56505312 [A/G] NM_006191 PA2G4 EXON Missense_K373R exm1012336 12 56514374 [A/G] NM_032786 ZC3H10 EXON Missense_G10S exm1012337 12 56514414 [A/G] NM_032786 ZC3H10 EXON Missense_S23N exm1012340 12 56514449 [A/G] NM_032786 ZC3H10 EXON Missense_G35R exm1012347 12 56514726 [T/C] NM_032786 ZC3H10 EXON Missense_P127L exm1012351 12 56514848 [T/C] NM_032786 ZC3H10 EXON Missense_R168W exm1012354 12 56514902 [T/C] NM_032786 ZC3H10 EXON Missense_R186C exm1012365 12 56515176 [A/G] NM_032786 ZC3H10 EXON Missense_N277S exm-rs11171747 12 56518408 [T/G] exm1012383 12 56522122 [A/G] NM_001184796,NM_015292 ESYT1,ESYT1 EXON Missense_E7K,Missense_E7K exm1012389 12 56522301 [A/G] NM_001184796,NM_015292 ESYT1,ESYT1 EXON Missense_I66M,Missense_I66M exm1012401 12 56524642 [T/C] NM_001184796,NM_015292 ESYT1,ESYT1 EXON Missense_P167L,Missense_P167L exm1012406 12 56524874 [T/G] NM_001184796,NM_015292 ESYT1,ESYT1 EXON Missense_Q206H,Missense_Q206H exm1012411 12 56525298 [T/C] NM_001184796,NM_015292 ESYT1,ESYT1 EXON Missense_I251T,Missense_I251T exm1012414 12 56525343 [A/G] NM_001184796,NM_015292 ESYT1,ESYT1 EXON Missense_R266Q,Missense_R266Q exm1012425 12 56526275 [T/C] NM_001184796,NM_015292 ESYT1,ESYT1 EXON Missense_I352T,Missense_I352T exm1012427 12 56526301 [G/C] NM_001184796,NM_015292 ESYT1,ESYT1 EXON Missense_L361V,Missense_L361V exm1012428 12 56526308 [A/G] NM_001184796,NM_015292 ESYT1,ESYT1 EXON Missense_R363H,Missense_R363H exm1012437 12 56527229 [T/C] NM_001184796,NM_015292 ESYT1,ESYT1 EXON Nonsense_Q425X,Nonsense_Q425X exm1779216 12 56527596 [A/G] NM_001184796,NM_015292 ESYT1,ESYT1 EXON Missense_R471Q,Missense_R471Q exm1012443 12 56527641 [A/G] NM_001184796,NM_015292 ESYT1,ESYT1 EXON Missense_R486Q,Missense_R486Q exm1779222 12 56528185 [A/C] NM_001184796,NM_015292 ESYT1,ESYT1 EXON Missense_D545E,Missense_D535E exm1012455 12 56530553 [T/C] NM_001184796,NM_015292 ESYT1,ESYT1 EXON Missense_T563I,Missense_T553I exm1012461 12 56531012 [T/G] NM_001184796,NM_015292 ESYT1,ESYT1 EXON Missense_L608W,Missense_L598W exm1012464 12 56531117 [A/G] NM_001184796,NM_015292 ESYT1,ESYT1 EXON Missense_R643Q,Missense_R633Q exm1012468 12 56531155 [A/G] NM_001184796,NM_015292 ESYT1,ESYT1 EXON Missense_E656K,Missense_E646K exm1012473 12 56531401 [A/G] NM_001184796,NM_015292 ESYT1,ESYT1 EXON Missense_S696N,Missense_S686N exm1012485 12 56532009 [T/C] NM_001184796,NM_015292 ESYT1,ESYT1 EXON Missense_R774C,Missense_R764C exm1012487 12 56532058 [T/C] NM_001184796,NM_015292 ESYT1,ESYT1 Silent,Silent exm1012490 12 56532228 [T/C] NM_001184796,NM_015292 ESYT1,ESYT1 EXON Missense_A803V,Missense_A793V exm1012494 12 56532282 [T/C] NM_001184796,NM_015292 ESYT1,ESYT1 EXON Missense_P821L,Missense_P811L exm2274602 12 56532718 [C/G] NM_001184796,NM_015292 ESYT1,ESYT1 EXON Missense_S848W,Missense_S838W exm1012501 12 56532720 [A/C] NM_001184796,NM_015292 ESYT1,ESYT1 EXON Missense_Q849K,Missense_Q839K exm2267353 12 56535251 [A/G] NM_001184796,NM_015292 ESYT1,ESYT1 Silent,Silent exm2277042 12 56536173 [T/G] NM_001184796,NM_015292 ESYT1,ESYT1 EXON Missense_S909R,Missense_S899R exm1012522 12 56536687 [A/G] NM_001184796,NM_015292 ESYT1,ESYT1 EXON Missense_R996Q,Missense_R986Q exm1012526 12 56536820 [T/C] NM_001184796,NM_015292 ESYT1,ESYT1 EXON Missense_R1013C,Missense_R1003C exm1012527 12 56536821 [A/G] NM_001184796,NM_015292 ESYT1,ESYT1 EXON Missense_R1013H,Missense_R1003H exm1012529 12 56536872 [A/G] NM_001184796,NM_015292 ESYT1,ESYT1 EXON Missense_R1030Q,Missense_R1020Q exm1012553 12 56548903 [T/G] NM_001199629,NM_002475 MYL6B,MYL6B EXON Missense_C89W,Missense_C89W exm1012563 12 56548977 [A/G] NM_001199629,NM_002475 MYL6B,MYL6B EXON Missense_S114N,Missense_S114N exm1012572 12 56551264 [C/G] NM_001199629,NM_002475 MYL6B,MYL6B EXON Missense_T178S,Missense_T178S exm1012592 12 56553833 [A/G] NM_021019,NM_079423 MYL6,MYL6 EXON Missense_G84S,Missense_G84S exm1012593 12 56553836 [A/C] NM_021019,NM_079423 MYL6,MYL6 EXON Missense_T85P,Missense_T85P exm1012603 12 56554411 [A/G] NM_021019,NM_079423 MYL6,MYL6 EXON Synonymous_A143A,Silent exm1012604 12 56554413 [T/C] NM_021019,NM_079423 MYL6,MYL6 EXON Missense_F144S,Silent exm1012615 12 56555182 [A/G] NM_021019,NM_079423 MYL6,MYL6 EXON Silent,Missense_M147V exm1012636 12 56558318 [G/C] NM_003075,NM_001130420,NM_139067 SMARCC2,SMARCC2,SMARCC2 EXON Missense_P1113A,Silent,Silent exm1012641 12 56558438 [T/C] NM_003075,NM_001130420,NM_139067 SMARCC2,SMARCC2,SMARCC2 EXON Missense_V1073M,Missense_V1104M,Missense_V1104M exm1012642 12 56558450 [T/C] NM_003075,NM_001130420,NM_139067 SMARCC2,SMARCC2,SMARCC2 EXON Missense_G1069R,Missense_G1100R,Missense_G1100R exm1012644 12 56558483 [A/G] NM_003075,NM_001130420,NM_139067 SMARCC2,SMARCC2,SMARCC2 EXON Missense_P1058S,Missense_P1089S,Missense_P1089S exm1012647 12 56559114 [T/G] NM_003075,NM_001130420,NM_139067 SMARCC2,SMARCC2,SMARCC2 EXON Missense_P1043T,Missense_P1074T,Missense_P1074T exm1779303 12 56559116 [A/G] NM_003075,NM_001130420,NM_139067 SMARCC2,SMARCC2,SMARCC2 EXON Missense_P1042L,Missense_P1073L,Missense_P1073L exm1012678 12 56563563 [T/C] NM_003075,NM_001130420,NM_139067 SMARCC2,SMARCC2,SMARCC2 EXON Missense_I818V,Missense_I849V,Missense_I849V exm2220822 12 56563602 [T/C] NM_003075,NM_001130420,NM_139067 SMARCC2,SMARCC2,SMARCC2 EXON Missense_D805N,Missense_D836N,Missense_D836N exm1012682 12 56563652 [T/C] NM_003075,NM_001130420,NM_139067 SMARCC2,SMARCC2,SMARCC2 EXON Missense_E788G,Missense_E819G,Missense_E819G exm1012706 12 56567520 [A/G] NM_003075,NM_001130420,NM_139067 SMARCC2,SMARCC2,SMARCC2 EXON Missense_T537I,Missense_T537I,Missense_T537I exm1012764 12 56583193 [A/G] NM_003075,NM_001130420,NM_139067 SMARCC2,SMARCC2,SMARCC2 EXON Missense_A18V,Missense_A18V,Missense_A18V exm1012765 12 56583238 [A/G] NM_003075,NM_001130420,NM_139067 SMARCC2,SMARCC2,SMARCC2 EXON Missense_V3A,Missense_V3A,Missense_V3A exm1779355 12 56600432 [A/G] NM_005785,NM_001242826,NM_194359,NR_040053,NM_194358 RNF41,RNF41,RNF41,RNF41,RNF41 EXON Synonymous_H251H,Synonymous_H251H,Synonymous_H251H,Silent,Synonymous_H180H exm1012780 12 56600528 [T/C] NM_005785,NM_001242826,NM_194359,NR_040053,NM_194358 RNF41,RNF41,RNF41,RNF41,RNF41 EXON Synonymous_S219S,Synonymous_S219S,Synonymous_S219S,Silent,Synonymous_S148S exm1012783 12 56601479 [A/G] NM_005785,NM_001242826,NM_194359,NR_040053,NM_194358 RNF41,RNF41,RNF41,RNF41,RNF41 EXON Missense_P185S,Missense_P185S,Missense_P185S,Silent,Missense_P114S exm1012796 12 56604166 [T/C] NM_005785,NM_001242826,NM_194359,NR_040053,NM_194358 RNF41,RNF41,RNF41,RNF41,RNF41 EXON Missense_V93I,Missense_V93I,Missense_V93I,Silent,Missense_V22I exm1012832 12 56625081 [A/G] NM_173596,NM_001135195 SLC39A5,SLC39A5 EXON Missense_H8R,Missense_H8R exm1012835 12 56625114 [T/C] NM_173596,NM_001135195 SLC39A5,SLC39A5 EXON Missense_L19S,Missense_L19S exm1012836 12 56625203 [A/G] NM_173596,NM_001135195 SLC39A5,SLC39A5 EXON Missense_E49K,Missense_E49K exm1012843 12 56625309 [A/G] NM_173596,NM_001135195 SLC39A5,SLC39A5 EXON Missense_R84Q,Missense_R84Q exm1012846 12 56626573 [T/C] NM_173596,NM_001135195 SLC39A5,SLC39A5 EXON Missense_R130C,Missense_R130C exm1779379 12 56626574 [A/G] NM_173596,NM_001135195 SLC39A5,SLC39A5 EXON Missense_R130H,Missense_R130H exm1012847 12 56626576 [A/G] NM_173596,NM_001135195 SLC39A5,SLC39A5 EXON Missense_G131R,Missense_G131R exm1012852 12 56626656 [T/C] NM_173596,NM_001135195 SLC39A5,SLC39A5 EXON Synonymous_D157D,Synonymous_D157D exm1012854 12 56628653 [A/G] NM_173596,NM_001135195 SLC39A5,SLC39A5 EXON Missense_A173T,Missense_A173T exm1779388 12 56628681 [T/C] NM_173596,NM_001135195 SLC39A5,SLC39A5 EXON Missense_A182V,Missense_A182V exm1012866 12 56629010 [A/G] NM_173596,NM_001135195 SLC39A5,SLC39A5 EXON Missense_R235Q,Missense_R235Q exm1012869 12 56629033 [T/C] NM_173596,NM_001135195 SLC39A5,SLC39A5 EXON Missense_R243W,Missense_R243W exm1012870 12 56629034 [A/G] NM_173596,NM_001135195 SLC39A5,SLC39A5 EXON Missense_R243Q,Missense_R243Q exm1012872 12 56629064 [T/C] NM_173596,NM_001135195 SLC39A5,SLC39A5 EXON Missense_A253V,Missense_A253V exm1012880 12 56629362 [A/G] NM_173596,NM_001135195 SLC39A5,SLC39A5 EXON Missense_A275T,Missense_A275T exm1012883 12 56629417 [G/C] NM_173596,NM_001135195 SLC39A5,SLC39A5 EXON Missense_G293A,Missense_G293A exm1012887 12 56629471 [A/G] NM_173596,NM_001135195 SLC39A5,SLC39A5 EXON Missense_R311Q,Missense_R311Q exm1012890 12 56630198 [T/C] NM_173596,NM_001135195 SLC39A5,SLC39A5 EXON Nonsense_R322X,Nonsense_R322X exm1012894 12 56630217 [A/G] NM_173596,NM_001135195 SLC39A5,SLC39A5 EXON Missense_R328H,Missense_R328H exm1012895 12 56630271 [T/C] NM_173596,NM_001135195 SLC39A5,SLC39A5 EXON Missense_A346V,Missense_A346V exm1012901 12 56630444 [G/C] NM_173596,NM_001135195 SLC39A5,SLC39A5 EXON Missense_S374T,Missense_S374T exm1012902 12 56630447 [T/A] NM_173596,NM_001135195 SLC39A5,SLC39A5 EXON Missense_H375L,Missense_H375L exm1012906 12 56630505 [A/C] NM_173596,NM_001135195 SLC39A5,SLC39A5 EXON Missense_H394Q,Missense_H394Q exm1012916 12 56630973 [A/G] NM_173596,NM_001135195 SLC39A5,SLC39A5 EXON Missense_R443Q,Missense_R443Q exm1012919 12 56630985 [T/C] NM_173596,NM_001135195 SLC39A5,SLC39A5 EXON Missense_L447P,Missense_L447P exm1012922 12 56631012 [G/C] NM_173596,NM_001135195 SLC39A5,SLC39A5 EXON Missense_G456A,Missense_G456A exm1012930 12 56631394 [T/C] NM_173596,NM_001135195 SLC39A5,SLC39A5 EXON Missense_P501L,Missense_P501L exm1012932 12 56631409 [T/C] NM_173596,NM_001135195 SLC39A5,SLC39A5 EXON Missense_T506M,Missense_T506M exm1012941 12 56636975 [G/C] NM_173595 ANKRD52 EXON Missense_S1061T exm2251080 12 56637657 [T/C] NM_173595 ANKRD52 EXON Synonymous_P964P exm1012954 12 56637881 [T/C] NM_173595 ANKRD52 EXON Missense_T948A exm1012959 12 56638483 [T/C] NM_173595 ANKRD52 EXON Missense_R892H exm1012967 12 56638942 [A/G] NM_173595 ANKRD52 EXON Missense_H813Y exm1012999 12 56642341 [T/C] NM_173595 ANKRD52 EXON Missense_M572V exm1013002 12 56642599 [T/C] NM_173595 ANKRD52 EXON Missense_G550S exm1013003 12 56642623 [T/C] NM_173595 ANKRD52 EXON Missense_D542N exm1013020 12 56646651 [A/C] NM_173595 ANKRD52 EXON Missense_S405I exm1013027 12 56648021 [T/C] NM_173595 ANKRD52 EXON Missense_A246T exm1013030 12 56648366 [A/G] NM_173595 ANKRD52 EXON Missense_A230V exm1013041 12 56651097 [T/C] NM_173595 ANKRD52 EXON Missense_V54I exm1013046 12 56660905 [T/G] NM_144576 COQ10A EXON Missense_M1I exm1013048 12 56661188 [C/G] NM_144576,NM_001099337 COQ10A,COQ10A EXON Silent,Missense_L3F exm1013068 12 56663345 [A/G] NM_144576,NM_001099337 COQ10A,COQ10A EXON Synonymous_S192S,Synonymous_S160S exm1013069 12 56663950 [A/G] NM_144576,NM_001099337 COQ10A,COQ10A EXON Missense_R198H,Missense_R166H exm1013076 12 56664040 [A/G] NM_144576,NM_001099337 COQ10A,COQ10A EXON Missense_K228R,Missense_K196R exm1013081 12 56664097 [G/C] NM_144576,NM_001099337 COQ10A,COQ10A EXON Missense_T247S,Missense_T215S exm1013130 12 56693981 [C/G] NM_004077 CS EXON Missense_A2G exm1013134 12 56704347 [T/C] NM_014255 CNPY2 EXON Missense_D180N exm1013152 12 56708706 [T/C] NM_014255,NM_001190991 CNPY2,CNPY2 EXON Missense_V45M,Missense_V45M exm1013179 12 56713694 [A/G] NM_001127460,NM_014871,NM_001166279 PAN2,PAN2,PAN2 EXON Missense_I971T,Missense_I967T,Missense_I970T exm1013183 12 56713797 [A/G] NM_001127460,NM_014871,NM_001166279 PAN2,PAN2,PAN2 EXON Missense_P937S,Missense_P933S,Missense_P936S exm1779509 12 56715882 [T/C] NM_001127460,NM_014871,NM_001166279 PAN2,PAN2,PAN2 EXON Missense_N927S,Missense_N923S,Missense_N926S exm1013197 12 56716948 [A/C] NM_001127460,NM_014871,NM_001166279 PAN2,PAN2,PAN2 EXON Missense_I801M,Missense_I797M,Missense_I800M exm1013198 12 56716955 [A/G] NM_001127460,NM_014871,NM_001166279 PAN2,PAN2,PAN2 EXON Missense_P799L,Missense_P795L,Missense_P798L exm1013201 12 56717137 [T/C] NM_001127460,NM_014871,NM_001166279 PAN2,PAN2,PAN2 EXON Missense_G772D,Missense_G768D,Missense_G771D exm1013206 12 56717364 [A/G] NM_001127460,NM_014871,NM_001166279 PAN2,PAN2,PAN2 EXON Missense_R735C,Missense_R731C,Missense_R734C exm1013217 12 56718109 [T/C] NM_001127460,NM_014871,NM_001166279 PAN2,PAN2,PAN2 EXON Missense_I633V,Missense_I633V,Missense_I633V exm1013222 12 56718381 [T/C] NM_001127460,NM_014871,NM_001166279 PAN2,PAN2,PAN2 EXON Missense_R571H,Missense_R571H,Missense_R571H exm1013234 12 56719165 [T/C] NM_001127460,NM_014871,NM_001166279 PAN2,PAN2,PAN2 EXON Missense_R478Q,Missense_R478Q,Missense_R478Q exm1013237 12 56720101 [T/C] NM_001127460,NM_014871,NM_001166279 PAN2,PAN2,PAN2 EXON Missense_N452S,Missense_N452S,Missense_N452S exm1013249 12 56720554 [T/C] NM_001127460,NM_014871,NM_001166279 PAN2,PAN2,PAN2 EXON Missense_R370H,Missense_R370H,Missense_R370H exm1013252 12 56720687 [T/C] NM_001127460,NM_014871,NM_001166279 PAN2,PAN2,PAN2 EXON Missense_V326M,Missense_V326M,Missense_V326M exm1013254 12 56721217 [A/G] NM_001127460,NM_014871,NM_001166279 PAN2,PAN2,PAN2 EXON Missense_H284Y,Missense_H284Y,Missense_H284Y exm1779536 12 56721247 [T/C] NM_001127460,NM_014871,NM_001166279 PAN2,PAN2,PAN2 EXON Missense_M274V,Missense_M274V,Missense_M274V exm1779537 12 56721306 [T/A] NM_001127460,NM_014871,NM_001166279 PAN2,PAN2,PAN2 EXON Missense_F254Y,Missense_F254Y,Missense_F254Y exm1013263 12 56721807 [A/C] NM_001127460,NM_014871,NM_001166279 PAN2,PAN2,PAN2 EXON Missense_F208C,Missense_F208C,Missense_F208C exm1013265 12 56721843 [A/G] NM_001127460,NM_014871,NM_001166279 PAN2,PAN2,PAN2 EXON Missense_T196M,Missense_T196M,Missense_T196M exm1013266 12 56722041 [A/G] NM_001127460,NM_014871,NM_001166279 PAN2,PAN2,PAN2 EXON Missense_T185I,Missense_T185I,Missense_T185I exm1013267 12 56722060 [T/G] NM_001127460,NM_014871,NM_001166279 PAN2,PAN2,PAN2 EXON Missense_I179L,Missense_I179L,Missense_I179L exm1779542 12 56722084 [T/C] NM_001127460,NM_014871,NM_001166279 PAN2,PAN2,PAN2 EXON Missense_V171I,Missense_V171I,Missense_V171I exm1013286 12 56733530 [T/C] NM_016584 IL23A EXON Missense_S106L exm1013304 12 56737251 [A/C] NM_005419,NM_198332 STAT2,STAT2 EXON Missense_Q826H,Missense_Q822H exm1013316 12 56737846 [T/C] NM_005419,NM_198332 STAT2,STAT2 EXON Missense_G726R,Missense_G722R exm-rs2066808 12 56737973 [A/G] NM_005419,NM_198332 STAT2,STAT2 Silent,Silent exm1013320 12 56739986 [A/C] NM_005419,NM_198332 STAT2,STAT2 EXON Synonymous_V682V,Synonymous_V678V exm1013334 12 56740682 [G/C] NM_005419,NM_198332 STAT2,STAT2 EXON Missense_M594I,Missense_M590I exm1779578 12 56742363 [T/G] NM_005419,NM_198332 STAT2,STAT2 EXON Missense_D558E,Missense_D554E exm1779584 12 56742818 [A/G] NM_005419,NM_198332 STAT2,STAT2 EXON Missense_P489L,Missense_P485L exm1013351 12 56742997 [T/C] NM_005419,NM_198332 STAT2,STAT2 EXON Missense_I464V,Missense_I460V exm1013353 12 56743044 [A/G] NM_005419,NM_198332 STAT2,STAT2 EXON Missense_T448M,Missense_T444M exm1013360 12 56744200 [G/C] NM_005419,NM_198332 STAT2,STAT2 EXON Missense_Q371E,Missense_Q367E exm1013375 12 56748295 [G/C] NM_005419,NM_198332 STAT2,STAT2 EXON Missense_C246S,Missense_C242S exm1013378 12 56748347 [T/C] NM_005419,NM_198332 STAT2,STAT2 EXON Missense_E229K,Missense_E225K exm1013395 12 56749951 [T/G] NM_005419,NM_198332 STAT2,STAT2 EXON Missense_Q84K,Missense_Q84K exm1013398 12 56750247 [A/C] NM_005419,NM_198332 STAT2,STAT2 EXON Missense_V37F,Missense_V37F exm1013400 12 56755058 [A/G] NM_001638 APOF EXON Missense_I311T exm1013415 12 56755393 [C/G] NM_001638 APOF EXON Missense_L199F exm1013417 12 56755457 [C/G] NM_001638 APOF EXON Missense_A178G exm1013420 12 56755490 [A/G] NM_001638 APOF EXON Missense_P167L exm1013426 12 56755652 [T/C] NM_001638 APOF EXON Missense_R113H exm1013431 12 56755823 [A/T] NM_001638 APOF EXON Missense_Q56L exm1013433 12 56755844 [A/G] NM_001638 APOF EXON Missense_F49S exm1013434 12 56755893 [T/G] NM_001638 APOF EXON Missense_P33T exm1013438 12 56755952 [T/C] NM_001638 APOF EXON Missense_R13H exm1013444 12 56811549 [T/C] NM_003920 TIMELESS EXON Missense_G1193E exm1013450 12 56811736 [C/G] NM_003920 TIMELESS EXON Missense_L1171V exm1013459 12 56811784 [T/C] NM_003920 TIMELESS EXON Missense_A1155T exm1013467 12 56812032 [T/C] NM_003920 TIMELESS EXON Missense_K1114E exm1013473 12 56814373 [A/G] NM_003920 TIMELESS EXON Missense_R1070W exm1013475 12 56814403 [A/G] NM_003920 TIMELESS EXON Missense_F1060L exm1013477 12 56814418 [T/G] NM_003920 TIMELESS EXON Missense_M1055L exm1013479 12 56814430 [T/C] NM_003920 TIMELESS EXON Missense_N1051D exm1013484 12 56814608 [T/C] NM_003920 TIMELESS EXON Missense_R1033Q exm1013486 12 56814653 [A/G] NM_003920 TIMELESS EXON Missense_P1018L exm1013487 12 56814656 [A/G] NM_003920 TIMELESS EXON Missense_I1017T exm1013494 12 56815163 [T/C] NM_003920 TIMELESS EXON Missense_R947Q exm1013497 12 56815184 [T/C] NM_003920 TIMELESS EXON Missense_R940Q exm1013498 12 56815185 [A/G] NM_003920 TIMELESS EXON Missense_R940W exm1013500 12 56815233 [A/G] NM_003920 TIMELESS EXON Missense_R924W exm1013505 12 56815523 [A/G] NM_003920 TIMELESS EXON Missense_R905W exm1013511 12 56815717 [T/C] NM_003920 TIMELESS EXON Missense_M870V exm1013515 12 56815896 [A/C] NM_003920 TIMELESS EXON Missense_V840L exm1013519 12 56815922 [T/C] NM_003920 TIMELESS EXON Missense_R831Q exm1013548 12 56817488 [T/C] NM_003920 TIMELESS EXON Missense_Q657R exm1013558 12 56818577 [C/G] NM_003920 TIMELESS EXON Missense_P613A exm1013559 12 56818610 [A/G] NM_003920 TIMELESS EXON Missense_R602W exm1013561 12 56818634 [T/C] NM_003920 TIMELESS EXON Missense_E594K exm1013562 12 56818682 [T/C] NM_003920 TIMELESS EXON Missense_M578V exm1013574 12 56822099 [T/C] NM_003920 TIMELESS EXON Missense_R500H exm1013580 12 56822163 [A/G] NM_003920 TIMELESS EXON Nonsense_R479X exm1013583 12 56822345 [C/G] NM_003920 TIMELESS EXON Missense_R466G exm1013587 12 56822378 [A/T] NM_003920 TIMELESS EXON Missense_I455L exm1013600 12 56823909 [A/G] NM_003920 TIMELESS EXON Missense_R356W exm1013608 12 56824664 [C/G] NM_003920 TIMELESS Silent exm1013609 12 56824665 [A/G] NM_003920 TIMELESS EXON Synonymous_N303N exm1013628 12 56825355 [A/G] NM_003920 TIMELESS EXON Missense_R241C exm1013630 12 56825379 [T/G] NM_003920 TIMELESS EXON Missense_Q233K exm1013642 12 56826265 [A/G] NM_003920 TIMELESS EXON Missense_A192V exm1013648 12 56827209 [A/C] NM_003920 TIMELESS EXON Missense_A129S exm1013652 12 56827583 [T/G] NM_003920 TIMELESS EXON Missense_D75E exm1013653 12 56827594 [A/G] NM_003920 TIMELESS EXON Missense_H72Y exm2274605 12 56827618 [T/C] NM_003920 TIMELESS EXON Missense_D64N exm1013672 12 56847410 [T/C] NM_012064 MIP EXON Missense_V164I exm1013681 12 56848079 [T/C] NM_012064 MIP EXON Missense_V107I exm1013688 12 56848199 [T/C] NM_012064 MIP EXON Missense_V67I exm1013703 12 56862886 [T/C] NM_207344 SPRYD4 EXON Missense_M50T exm1013705 12 56862905 [T/G] NM_207344 SPRYD4 EXON Missense_L56F exm1013709 12 56863068 [T/C] NM_207344 SPRYD4 EXON Missense_R111W exm1013725 12 56865338 [A/G] NM_013267 GLS2 EXON Missense_L581P exm1013726 12 56865339 [A/G] NM_013267 GLS2 EXON Missense_L581F exm1013782 12 56872924 [T/C] NM_013267 GLS2 EXON Missense_R149Q exm1013800 12 56956315 [T/C] NM_002898 RBMS2 EXON Nonsense_R61X exm1013802 12 56956367 [T/C] NM_002898 RBMS2 EXON Missense_P78L exm1013803 12 56956368 [A/G] NM_002898 RBMS2 Silent exm1013807 12 56963736 [T/G] NM_002898 RBMS2 EXON Missense_A116S exm1013818 12 56974972 [G/C] NM_002898 RBMS2 EXON Missense_E183Q exm1013826 12 56975620 [A/G] NM_002898 RBMS2 EXON Missense_V246I exm1013829 12 56975847 [T/C] NM_002898 RBMS2 EXON Missense_Y262H exm1013837 12 56982085 [T/C] NM_002898 RBMS2 EXON Missense_P357L exm1013843 12 56982156 [A/G] NM_002898 RBMS2 EXON Missense_E381K exm1013851 12 56992559 [G/C] NM_013449 BAZ2A EXON Missense_S1854T exm1013864 12 56993078 [T/C] NM_013449 BAZ2A EXON Missense_G1748D exm1779822 12 56994493 [T/C] NM_013449 BAZ2A EXON Missense_R1527Q exm1013884 12 56994535 [A/G] NM_013449 BAZ2A EXON Missense_T1513I exm1013885 12 56994539 [T/C] NM_013449 BAZ2A EXON Missense_E1512K exm1013888 12 56994568 [A/G] NM_013449 BAZ2A EXON Missense_M1502T exm1779824 12 56994614 [T/G] NM_013449 BAZ2A EXON Missense_P1487T exm1013892 12 56994778 [A/G] NM_013449 BAZ2A EXON Missense_L1469F exm1013894 12 56994855 [T/C] NM_013449 BAZ2A EXON Missense_R1443Q exm1013901 12 56995110 [T/C] NM_013449 BAZ2A EXON Missense_K1385R exm1013918 12 56995647 [C/G] NM_013449 BAZ2A EXON Missense_P1254A exm1013920 12 56995676 [T/C] NM_013449 BAZ2A EXON Missense_H1244R exm1013921 12 56995856 [G/C] NM_013449 BAZ2A EXON Missense_S1184C exm1013922 12 56995907 [A/G] NM_013449 BAZ2A EXON Missense_A1167V exm1013938 12 56998430 [T/G] NM_013449 BAZ2A EXON Missense_Q970K exm1013940 12 56998490 [T/C] NM_013449 BAZ2A EXON Missense_V950I exm1013941 12 56998559 [T/C] NM_013449 BAZ2A EXON Missense_V927M exm2274606 12 57000067 [G/C] NM_013449 BAZ2A EXON Missense_K743N exm1013955 12 57000083 [T/C] NM_013449 BAZ2A EXON Missense_R738Q exm1013961 12 57003547 [A/G] NM_013449 BAZ2A EXON Missense_R691C exm2251085 12 57003725 [T/C] NM_013449 BAZ2A EXON Synonymous_L631L exm1014000 12 57007788 [T/C] NM_013449 BAZ2A EXON Missense_T291A exm1779876 12 57008962 [T/C] NM_013449 BAZ2A EXON Missense_Q191R exm1014015 12 57029969 [A/T] NM_013449 BAZ2A EXON Missense_M1L exm1014023 12 57032900 [A/C] NM_001686 ATP5B EXON Missense_Q493H exm1014041 12 57037209 [T/C] NM_001686 ATP5B EXON Missense_N257S exm1014042 12 57037227 [A/G] NM_001686 ATP5B EXON Missense_I251T exm1014053 12 57039038 [A/T] NM_001686 ATP5B EXON Missense_D76V exm1014056 12 57039080 [T/C] NM_001686 ATP5B EXON Missense_R62H exm-rs2958154 12 57065713 [T/C] NM_006601 PTGES3 Silent exm1014088 12 57066778 [T/C] NM_006601 PTGES3 EXON Missense_K25R exm1779945 12 57107359 [A/G] NM_001113203,NM_001113202,NR_045277 NACA,NACA,NACA EXON Missense_P825S,Missense_P115S,Silent exm1014119 12 57109792 [A/G] NM_001113203,NM_001113202,NR_045277 NACA,NACA,NACA EXON Missense_L688P,Silent,Silent exm1779954 12 57109861 [A/G] NM_001113203,NM_001113202,NR_045277 NACA,NACA,NACA EXON Missense_P665L,Silent,Silent exm1014122 12 57109931 [T/A] NM_001113203,NM_001113202,NR_045277 NACA,NACA,NACA EXON Missense_S642T,Silent,Silent exm1014124 12 57109961 [A/G] NM_001113203,NM_001113202,NR_045277 NACA,NACA,NACA EXON Missense_P632S,Silent,Silent exm1014302 12 57113357 [T/C] NM_001113203,NM_001113202,NR_045277 NACA,NACA,NACA EXON Missense_A610T,Silent,Silent exm1780015 12 57113567 [T/G] NM_001113203,NM_001113202,NR_045277 NACA,NACA,NACA EXON Missense_P583T,Silent,Silent exm1014308 12 57113620 [A/G] NM_001113203,NM_001113202,NR_045277 NACA,NACA,NACA EXON Missense_A565V,Silent,Silent exm1014313 12 57113759 [A/G] NM_001113203,NM_001113202,NR_045277 NACA,NACA,NACA EXON Missense_P519S,Silent,Silent exm1014318 12 57113809 [A/C] NM_001113203,NM_001113202,NR_045277 NACA,NACA,NACA EXON Missense_R502M,Silent,Silent exm1014320 12 57113845 [C/G] NM_001113203,NM_001113202,NR_045277 NACA,NACA,NACA EXON Missense_P490R,Silent,Silent exm1014324 12 57113918 [A/G] NM_001113203,NM_001113202,NR_045277 NACA,NACA,NACA EXON Missense_P466S,Silent,Silent exm1014327 12 57114061 [G/C] NM_001113203,NM_001113202,NR_045277 NACA,NACA,NACA EXON Missense_S418C,Silent,Silent exm1780022 12 57114067 [T/C] NM_001113203,NM_001113202,NR_045277 NACA,NACA,NACA EXON Missense_K416R,Silent,Silent exm1014330 12 57114100 [A/G] NM_001113203,NM_001113202,NR_045277 NACA,NACA,NACA EXON Missense_F405S,Silent,Silent exm1014331 12 57114113 [T/C] NM_001113203,NM_001113202,NR_045277 NACA,NACA,NACA EXON Missense_V401I,Silent,Silent exm1014336 12 57114203 [T/C] NM_001113203,NM_001113202,NR_045277 NACA,NACA,NACA EXON Missense_V371M,Silent,Silent exm1014340 12 57114307 [A/T] NM_001113203,NM_001113202,NR_045277 NACA,NACA,NACA EXON Missense_V336E,Silent,Silent exm1014345 12 57114418 [C/G] NM_001113203,NM_001113202,NR_045277 NACA,NACA,NACA EXON Missense_P299R,Silent,Silent exm1014355 12 57114695 [A/G] NM_001113203,NM_001113202,NR_045277 NACA,NACA,NACA EXON Missense_C207R,Silent,Silent exm1014356 12 57114712 [T/C] NM_001113203,NM_001113202,NR_045277 NACA,NACA,NACA EXON Missense_G201D,Silent,Silent exm1780025 12 57114842 [A/G] NM_001113203,NM_001113202,NR_045277 NACA,NACA,NACA EXON Missense_L158F,Silent,Silent exm1014359 12 57114869 [T/C] NM_001113203,NM_001113202,NR_045277 NACA,NACA,NACA EXON Missense_K149E,Silent,Silent exm1014360 12 57114889 [A/C] NM_001113203,NM_001113202,NR_045277 NACA,NACA,NACA EXON Missense_L142R,Silent,Silent exm1014366 12 57115084 [A/G] NM_001113203,NM_001113202,NR_045277 NACA,NACA,NACA EXON Missense_P77L,Silent,Silent exm1014369 12 57115172 [A/G] NM_001113203,NM_001113202,NR_045277 NACA,NACA,NACA EXON Missense_P48S,Silent,Silent exm1014378 12 57132236 [T/C] NM_000946 PRIM1 EXON Missense_V376I exm1014380 12 57133082 [T/C] NM_000946 PRIM1 EXON Missense_I350V exm1014384 12 57133108 [T/C] NM_000946 PRIM1 EXON Missense_Q341R exm1014395 12 57135579 [T/C] NM_000946 PRIM1 EXON Missense_N264S exm1014402 12 57139834 [C/G] NM_000946 PRIM1 EXON Missense_V192L exm1014405 12 57139953 [A/C] NM_000946 PRIM1 EXON Missense_F152C exm1014414 12 57146069 [T/G] NM_000946 PRIM1 EXON Missense_D5A exm1014416 12 57167653 [T/C] NM_003725 HSD17B6 EXON Missense_A6V exm1780051 12 57167691 [C/G] NM_003725 HSD17B6 EXON Missense_R19G exm1014419 12 57167752 [T/C] NM_003725 HSD17B6 EXON Missense_S39L exm1014429 12 57167872 [T/C] NM_003725 HSD17B6 EXON Missense_T79M exm1014433 12 57167921 [T/G] NM_003725 HSD17B6 EXON Missense_Q95H exm1014437 12 57175880 [T/G] NM_003725 HSD17B6 EXON Missense_L146V exm1014445 12 57178800 [T/C] NM_003725 HSD17B6 EXON Missense_L246F exm1014446 12 57180917 [A/G] NM_003725 HSD17B6 EXON Missense_I249V exm1014450 12 57181002 [T/C] NM_003725 HSD17B6 EXON Missense_P277L exm-rs12367822 12 57204160 [T/G] exm2267440 12 57249600 [A/G] exm1014455 12 57317649 [A/G] NM_148897 SDR9C7 EXON Missense_R304W exm1014461 12 57317747 [T/C] NM_148897 SDR9C7 EXON Missense_R271Q exm1014462 12 57323180 [A/G] NM_148897 SDR9C7 EXON Missense_R240C exm1014465 12 57323206 [T/C] NM_148897 SDR9C7 EXON Missense_R231Q exm1014466 12 57323239 [T/C] NM_148897 SDR9C7 EXON Missense_R220Q exm1014475 12 57323335 [T/C] NM_148897 SDR9C7 EXON Missense_R188H exm1014476 12 57323336 [A/G] NM_148897 SDR9C7 EXON Missense_R188C exm1014479 12 57324019 [T/C] NM_148897 SDR9C7 EXON Missense_D184G exm1014484 12 57324050 [T/C] NM_148897 SDR9C7 EXON Missense_V174I exm1014486 12 57324068 [T/C] NM_148897 SDR9C7 EXON Missense_I168V exm1014489 12 57324121 [T/C] NM_148897 SDR9C7 EXON Missense_R150K exm1014497 12 57327831 [T/C] NM_148897 SDR9C7 EXON Missense_R72Q exm1014498 12 57327846 [T/C] NM_148897 SDR9C7 EXON Missense_R67Q exm1014504 12 57327922 [T/C] NM_148897 SDR9C7 EXON Missense_A42T exm1014507 12 57327991 [G/C] NM_148897 SDR9C7 EXON Missense_L19V exm1014521 12 57346010 [T/C] NM_003708 RDH16 EXON Missense_M253V exm1014528 12 57346694 [A/C] NM_003708 RDH16 EXON Missense_R218I exm1014534 12 57348757 [T/C] NM_003708 RDH16 EXON Missense_V169M exm1014535 12 57348759 [T/C] NM_003708 RDH16 EXON Missense_R168Q exm1780121 12 57348789 [T/C] NM_003708 RDH16 EXON Missense_R158H exm1014537 12 57348843 [G/C] NM_003708 RDH16 EXON Missense_G140A exm1780122 12 57348871 [T/C] NM_003708 RDH16 EXON Missense_V131M exm1014546 12 57350946 [T/C] NM_003708 RDH16 EXON Missense_V101M exm1780127 12 57351020 [A/C] NM_003708 RDH16 EXON Missense_R76M exm1014552 12 57351053 [T/C] NM_003708 RDH16 EXON Missense_G65E exm1014565 12 57351230 [A/G] NM_003708 RDH16 EXON Missense_A6V exm1014575 12 57389151 [A/G] NM_007264 GPR182 EXON Missense_R53H exm1014577 12 57389153 [A/G] NM_007264 GPR182 EXON Missense_V54M exm1014584 12 57389247 [T/C] NM_007264 GPR182 EXON Missense_A85V exm1014596 12 57389484 [A/G] NM_007264 GPR182 EXON Missense_R164H exm1014599 12 57389511 [T/C] NM_007264 GPR182 EXON Missense_M173T exm1014620 12 57389907 [T/C] NM_007264 GPR182 EXON Missense_I305T exm1014631 12 57390038 [T/C] NM_007264 GPR182 EXON Missense_C349R exm1014634 12 57390065 [T/C] NM_007264 GPR182 EXON Nonsense_Q358X exm1014645 12 57396637 [C/G] NM_014830 ZBTB39 EXON Missense_P689A exm1014654 12 57396840 [T/C] NM_014830 ZBTB39 EXON Missense_N621S exm1014663 12 57396996 [T/C] NM_014830 ZBTB39 EXON Missense_R569Q exm1014665 12 57397033 [T/C] NM_014830 ZBTB39 EXON Missense_V557I exm1014671 12 57397161 [A/G] NM_014830 ZBTB39 EXON Missense_A514V exm1014673 12 57397176 [A/G] NM_014830 ZBTB39 EXON Missense_S509F exm1014696 12 57397612 [G/C] NM_014830 ZBTB39 EXON Missense_R364G exm1014698 12 57397627 [T/G] NM_014830 ZBTB39 EXON Missense_I359L exm2220869 12 57397638 [T/C] NM_014830 ZBTB39 EXON Missense_N355S exm1014701 12 57397689 [T/C] NM_014830 ZBTB39 EXON Missense_R338Q exm1014702 12 57397690 [A/G] NM_014830 ZBTB39 EXON Missense_R338W exm1014704 12 57397773 [A/G] NM_014830 ZBTB39 EXON Missense_A310V exm1014707 12 57397793 [A/G] NM_014830 ZBTB39 EXON Synonymous_D303D exm1014709 12 57397876 [A/G] NM_014830 ZBTB39 EXON Missense_C276R exm1014716 12 57398026 [T/G] NM_014830 ZBTB39 EXON Missense_T226P exm1014721 12 57398085 [A/G] NM_014830 ZBTB39 EXON Missense_P206L exm1014730 12 57398223 [T/C] NM_014830 ZBTB39 EXON Missense_R160Q exm1014749 12 57406234 [A/G] NR_033654,NM_013251,NM_001178054 TAC3,TAC3,TAC3 EXON Silent,Missense_S99P,Missense_S81P exm1014755 12 57406650 [T/C] NR_033654,NM_013251,NM_001178054 TAC3,TAC3,TAC3 EXON Silent,Missense_H83R,Silent exm1014757 12 57407173 [C/G] NR_033654,NM_013251,NM_001178054 TAC3,TAC3,TAC3 Silent,Silent,Silent exm1014762 12 57409475 [T/C] NR_033654,NM_013251,NM_001178054 TAC3,TAC3,TAC3 EXON Silent,Missense_R36H,Missense_R36H exm1014774 12 57422576 [T/G] NM_001256041,NM_005379 MYO1A,MYO1A EXON Missense_K1032T,Missense_K1032T exm1014780 12 57422645 [T/G] NM_001256041,NM_005379 MYO1A,MYO1A EXON Missense_E1009A,Missense_E1009A exm1014783 12 57422934 [A/G] NM_001256041,NM_005379 MYO1A,MYO1A EXON Missense_T996I,Missense_T996I exm1014800 12 57423540 [T/C] NM_001256041,NM_005379 MYO1A,MYO1A EXON Missense_N903S,Missense_N903S exm1014803 12 57423564 [A/G] NM_001256041,NM_005379 MYO1A,MYO1A EXON Missense_M895T,Missense_M895T exm2220873 12 57423594 [A/G] NM_001256041,NM_005379 MYO1A,MYO1A EXON Missense_L885P,Missense_L885P exm1014822 12 57424918 [A/G] NM_001256041,NM_005379 MYO1A,MYO1A EXON Missense_S797F,Missense_S797F exm1014823 12 57430099 [T/C] NM_001256041,NM_005379 MYO1A,MYO1A EXON Missense_K781E,Missense_K781E exm1014826 12 57430138 [A/G] NM_001256041,NM_005379 MYO1A,MYO1A EXON Missense_R768W,Missense_R768W exm2276883 12 57430162 [A/G] NM_001256041,NM_005379 MYO1A,MYO1A EXON Nonsense_R760X,Nonsense_R760X exm1014840 12 57431331 [A/C] NM_001256041,NM_005379 MYO1A,MYO1A Silent,Silent exm1014841 12 57431332 [A/G] NM_001256041,NM_005379 MYO1A,MYO1A EXON Synonymous_T685T,Synonymous_T685T exm1014842 12 57431355 [A/T] NM_001256041,NM_005379 MYO1A,MYO1A EXON Missense_I678F,Missense_I678F exm1014843 12 57431366 [T/C] NM_001256041,NM_005379 MYO1A,MYO1A EXON Missense_G674D,Missense_G674D exm1014845 12 57431402 [T/C] NM_001256041,NM_005379 MYO1A,MYO1A EXON Missense_G662E,Missense_G662E exm1014847 12 57431663 [T/C] NM_001256041,NM_005379 MYO1A,MYO1A EXON Missense_G651R,Missense_G651R exm1014849 12 57431687 [A/G] NM_001256041,NM_005379 MYO1A,MYO1A EXON Missense_R643W,Missense_R643W exm2274607 12 57431732 [A/G] NM_001256041,NM_005379 MYO1A,MYO1A EXON Missense_R628C,Missense_R628C exm1014868 12 57432609 [G/C] NM_001256041,NM_005379 MYO1A,MYO1A EXON Missense_C506S,Missense_C506S exm1014871 12 57432681 [T/C] NM_001256041,NM_005379 MYO1A,MYO1A EXON Missense_Y482C,Missense_Y482C exm1014874 12 57432759 [T/C] NM_001256041,NM_005379 MYO1A,MYO1A EXON Missense_E456G,Missense_E456G exm1014876 12 57432786 [T/C] NM_001256041,NM_005379 MYO1A,MYO1A EXON Missense_R447Q,Missense_R447Q exm1014880 12 57433048 [T/C] NM_001256041,NM_005379 MYO1A,MYO1A EXON Nonsense_W427X,Nonsense_W427X exm1014881 12 57433051 [A/G] NM_001256041,NM_005379 MYO1A,MYO1A EXON Missense_P426L,Missense_P426L exm1014887 12 57435225 [A/C] NM_001256041,NM_005379 MYO1A,MYO1A EXON Missense_E385D,Missense_E385D exm1014897 12 57437119 [T/C] NM_001256041,NM_005379 MYO1A,MYO1A EXON Missense_V306M,Missense_V306M exm1014899 12 57437137 [A/G] NM_001256041,NM_005379 MYO1A,MYO1A EXON Missense_R300W,Missense_R300W exm1014900 12 57437703 [T/C] NM_001256041,NM_005379 MYO1A,MYO1A EXON Missense_V277M,Missense_V277M exm1014908 12 57437952 [G/C] NM_001256041,NM_005379 MYO1A,MYO1A EXON Missense_L228V,Missense_L228V exm1014910 12 57437975 [T/C] NM_001256041,NM_005379 MYO1A,MYO1A EXON Missense_R220Q,Missense_R220Q exm1014911 12 57437976 [A/G] NM_001256041,NM_005379 MYO1A,MYO1A EXON Missense_R220W,Missense_R220W exm1014916 12 57440417 [A/G] NM_001256041,NM_005379 MYO1A,MYO1A EXON Nonsense_R187X,Nonsense_R187X exm1780238 12 57441092 [A/C] NM_001256041,NM_005379 MYO1A,MYO1A EXON Missense_L142R,Missense_L142R exm1014931 12 57441432 [T/C] NM_001256041,NM_005379 MYO1A,MYO1A EXON Missense_E102K,Missense_E102K exm1014932 12 57441459 [A/G] NM_001256041,NM_005379 MYO1A,MYO1A EXON Nonsense_R93X,Nonsense_R93X exm1014934 12 57441489 [T/C] NM_001256041,NM_005379 MYO1A,MYO1A EXON Missense_V83M,Missense_V83M exm1014935 12 57441501 [A/C] NM_001256041,NM_005379 MYO1A,MYO1A EXON Missense_A79S,Missense_A79S exm1014941 12 57442037 [T/A] NM_001256041,NM_005379 MYO1A,MYO1A EXON Missense_L24Q,Missense_L24Q exm1014947 12 57453694 [A/G] NM_001130963,NM_015257 TMEM194A,TMEM194A EXON Missense_P435S,Missense_P362S exm1014948 12 57453696 [T/C] NM_001130963,NM_015257 TMEM194A,TMEM194A EXON Missense_C434Y,Missense_C361Y exm1014949 12 57453699 [T/C] NM_001130963,NM_015257 TMEM194A,TMEM194A EXON Missense_R433Q,Missense_R360Q exm1780256 12 57454720 [C/G] NM_001130963,NM_015257 TMEM194A,TMEM194A EXON Missense_C330S,Missense_C257S exm1014963 12 57456983 [T/C] NM_001130963,NM_015257 TMEM194A,TMEM194A EXON Missense_H300R,Missense_H227R exm1014966 12 57457854 [T/G] NM_001130963,NM_015257 TMEM194A,TMEM194A EXON Missense_S252R,Missense_S179R exm1014969 12 57457959 [T/C] NM_001130963,NM_015257 TMEM194A,TMEM194A EXON Missense_I217V,Missense_I144V exm1780263 12 57458502 [T/G] NM_001130963,NM_015257 TMEM194A,TMEM194A EXON Missense_S189Y,Missense_S116Y exm1014974 12 57464588 [T/G] NM_001130963,NM_015257 TMEM194A,TMEM194A EXON Missense_N114T,Silent exm1014976 12 57466600 [T/G] NM_001130963,NM_015257 TMEM194A,TMEM194A EXON Missense_K75Q,Missense_K75Q exm1015013 12 57485513 [C/G] NM_005967 NAB2 EXON Missense_T230S exm1015030 12 57486901 [A/G] NM_005967 NAB2 EXON Missense_Y400C exm1015049 12 57490429 [C/G] NR_033659,NM_003153,NM_001178081,NM_001178078,NM_001178079,NM_001178080 STAT6,STAT6,STAT6,STAT6,STAT6,STAT6 EXON Silent,Missense_L824V,Missense_L714V,Missense_L824V,Missense_L824V,Missense_L714V exm1015053 12 57490491 [T/G] NR_033659,NM_003153,NM_001178081,NM_001178078,NM_001178079,NM_001178080 STAT6,STAT6,STAT6,STAT6,STAT6,STAT6 EXON Silent,Missense_T803N,Missense_T693N,Missense_T803N,Missense_T803N,Missense_T693N exm1015066 12 57492307 [T/C] NR_033659,NM_003153,NM_001178081,NM_001178078,NM_001178079,NM_001178080 STAT6,STAT6,STAT6,STAT6,STAT6,STAT6 EXON Silent,Missense_V714M,Missense_V604M,Missense_V714M,Missense_V714M,Missense_V604M exm1015071 12 57492342 [A/G] NR_033659,NM_003153,NM_001178081,NM_001178078,NM_001178079,NM_001178080 STAT6,STAT6,STAT6,STAT6,STAT6,STAT6 EXON Silent,Missense_P702L,Missense_P592L,Missense_P702L,Missense_P702L,Missense_P592L exm1015080 12 57492854 [A/C] NR_033659,NM_003153,NM_001178081,NM_001178078,NM_001178079,NM_001178080 STAT6,STAT6,STAT6,STAT6,STAT6,STAT6 EXON Silent,Missense_Q633H,Missense_Q523H,Missense_Q633H,Missense_Q633H,Missense_Q523H exm1015113 12 57499258 [T/C] NR_033659,NM_003153,NM_001178081,NM_001178078,NM_001178079,NM_001178080 STAT6,STAT6,STAT6,STAT6,STAT6,STAT6 EXON Silent,Missense_V269I,Missense_V159I,Missense_V269I,Missense_V269I,Missense_V159I exm1015122 12 57499995 [T/C] NR_033659,NM_003153,NM_001178081,NM_001178078,NM_001178079,NM_001178080 STAT6,STAT6,STAT6,STAT6,STAT6,STAT6 EXON Silent,Missense_S220N,Missense_S110N,Missense_S220N,Missense_S220N,Missense_S110N exm1015128 12 57500112 [A/C] NR_033659,NM_003153,NM_001178081,NM_001178078,NM_001178079,NM_001178080 STAT6,STAT6,STAT6,STAT6,STAT6,STAT6 EXON Silent,Missense_M181R,Missense_M71R,Missense_M181R,Missense_M181R,Missense_M71R exm1015139 12 57501043 [T/G] NR_033659,NM_003153,NM_001178081,NM_001178078,NM_001178079,NM_001178080 STAT6,STAT6,STAT6,STAT6,STAT6,STAT6 EXON Silent,Missense_Q104K,Silent,Missense_Q104K,Missense_Q104K,Silent exm-rs167769 12 57503775 [T/C] NR_033659,NM_003153,NM_001178081,NM_001178078,NM_001178079,NM_001178080 STAT6,STAT6,STAT6,STAT6,STAT6,STAT6 Silent,Silent,Silent,Silent,Silent,Silent exm-rs11172113 12 57527283 [T/C] NM_002332 LRP1 Silent exm2251090 12 57532348 [T/C] NM_002332 LRP1 EXON Synonymous_D58D exm1015174 12 57538822 [A/G] NM_002332 LRP1 EXON Missense_I172M exm1015179 12 57539082 [T/C] NM_002332 LRP1 EXON Missense_A217V exm1015182 12 57539117 [A/C] NM_002332 LRP1 EXON Missense_Q229K exm2251091 12 57549960 [A/G] NM_002332 LRP1 EXON Synonymous_T437T exm1015212 12 57549960 [A/G] NM_002332 LRP1 EXON Synonymous_T437T exm1015217 12 57550064 [A/G] NM_002332 LRP1 EXON Missense_R472Q exm1015220 12 57550583 [A/G] NM_002332 LRP1 EXON Missense_D481N exm1015225 12 57550649 [A/C] NM_002332 LRP1 EXON Missense_T503P exm1015238 12 57554720 [A/G] NM_002332 LRP1 EXON Missense_R675Q exm1015241 12 57554771 [T/G] NM_002332 LRP1 EXON Missense_F692C exm1015246 12 57554861 [A/G] NM_002332 LRP1 EXON Missense_R722H exm1015248 12 57556158 [A/T] NM_002332 LRP1 EXON Missense_Y754F exm1015251 12 57556205 [T/C] NM_002332 LRP1 EXON Missense_R770W exm1015252 12 57556211 [A/G] NM_002332 LRP1 EXON Missense_V772I exm1015254 12 57556236 [T/C] NM_002332 LRP1 EXON Missense_T780I exm2274608 12 57556673 [G/C] NM_002332 LRP1 EXON Missense_G813R exm1015289 12 57566996 [A/G] NM_002332 LRP1 EXON Missense_R1070Q exm1015309 12 57567762 [T/C] NM_002332 LRP1 EXON Synonymous_C1182C exm1015314 12 57569339 [A/G] NM_002332 LRP1 EXON Missense_G1215E exm1015356 12 57572742 [A/G] NM_002332 LRP1 EXON Missense_R1559Q exm1015359 12 57572756 [A/G] NM_002332 LRP1 EXON Missense_A1564T exm1015360 12 57573135 [A/G] NM_002332 LRP1 EXON Missense_A1588T exm1015365 12 57573247 [A/G] NM_002332 LRP1 EXON Missense_R1625H exm1015408 12 57577915 [T/C] NM_002332 LRP1 EXON Missense_R1993W exm1015409 12 57577981 [A/G] NM_002332 LRP1 EXON Missense_V2015I exm1015419 12 57578673 [A/G] NM_002332 LRP1 EXON Missense_D2080N exm1015428 12 57578974 [A/G] NM_002332 LRP1 EXON Missense_R2150Q exm1015476 12 57585281 [A/G] NM_002332 LRP1 EXON Missense_N2472S exm1015483 12 57586960 [A/G] NM_002332 LRP1 EXON Synonymous_A2519A exm1015490 12 57587039 [A/G] NM_002332 LRP1 EXON Missense_G2546S exm1015507 12 57587715 [A/G] NM_002332 LRP1 EXON Missense_R2613Q exm1015511 12 57587773 [A/C] NM_002332 LRP1 EXON Missense_D2632E exm1015537 12 57588432 [T/C] NM_002332 LRP1 EXON Missense_T2714M exm1015546 12 57588839 [A/G] NM_002332 LRP1 EXON Missense_G2755S exm2251092 12 57589067 [T/C] NM_002332 LRP1 EXON Synonymous_C2774C exm1015549 12 57589107 [A/G] NM_002332 LRP1 EXON Missense_V2788I exm1015557 12 57589510 [T/C] NM_002332 LRP1 EXON Missense_V2836A exm1015563 12 57589676 [A/G] NM_002332 LRP1 EXON Missense_R2864H exm1015566 12 57589784 [A/C] NM_002332 LRP1 EXON Missense_Q2900P exm1015571 12 57589926 [A/G] NM_002332 LRP1 EXON Missense_E2920K exm1015574 12 57589981 [G/C] NM_002332 LRP1 EXON Missense_G2938A exm1015580 12 57590052 [A/G] NM_002332 LRP1 EXON Missense_G2962S exm1015589 12 57590856 [A/G] NM_002332 LRP1 EXON Missense_R2995H exm1015595 12 57590913 [A/G] NM_002332 LRP1 EXON Missense_R3014H exm1015597 12 57590915 [A/G] NM_002332 LRP1 EXON Missense_G3015S exm1015643 12 57593182 [T/C] NM_002332 LRP1 EXON Synonymous_D3288D exm1015649 12 57593776 [T/C] NM_002332 LRP1 EXON Missense_R3328C exm1015655 12 57594318 [T/C] NM_002332 LRP1 EXON Missense_P3370S exm1015664 12 57594886 [A/G] NM_002332 LRP1 EXON Missense_R3432H exm1015690 12 57597253 [A/G] NM_002332 LRP1 EXON Missense_A3634T exm1015704 12 57598475 [A/G] NM_002332 LRP1 EXON Missense_G3713R exm1015706 12 57598512 [A/G] NM_002332 LRP1 EXON Missense_G3725E exm1015726 12 57599365 [G/C] NM_002332 LRP1 EXON Missense_G3832A exm1015747 12 57600390 [A/G] NM_002332 LRP1 EXON Missense_V3909I exm1015754 12 57600505 [A/G] NM_002332 LRP1 EXON Missense_R3947Q exm1015755 12 57600524 [T/C] NM_002332 LRP1 EXON Synonymous_N3953N exm1015758 12 57601891 [T/C] NM_002332 LRP1 EXON Missense_S3977L exm1015759 12 57601910 [T/G] NM_002332 LRP1 EXON Missense_E3983D exm1780562 12 57602881 [A/T] NM_002332 LRP1 EXON Missense_Y4054F exm1015769 12 57602950 [C/G] NM_002332 LRP1 EXON Missense_T4077R exm1015773 12 57603544 [A/G] NM_002332 LRP1 EXON Missense_R4111H exm1015778 12 57603859 [A/G] NM_002332 LRP1 EXON Missense_S4163G exm1015782 12 57603910 [A/G] NM_002332 LRP1 EXON Missense_G4180S exm1015784 12 57603920 [T/G] NM_002332 LRP1 EXON Missense_V4183G exm1015795 12 57604635 [A/G] NM_002332 LRP1 EXON Missense_G4297S exm1015797 12 57604647 [A/G] NM_002332 LRP1 EXON Missense_D4301N exm1015805 12 57605313 [A/G] NM_002332 LRP1 EXON Missense_G4379S exm1015809 12 57605713 [T/C] NM_002332 LRP1 EXON Missense_I4421T exm1015818 12 57606021 [G/C] NM_002332 LRP1 EXON Missense_D4491H exm2267354 12 57616013 [A/G] NM_007224 NXPH4 Silent exm1015852 12 57619144 [C/G] NM_007224 NXPH4 EXON Missense_A181P exm1015879 12 57624701 [T/C] NM_005412,NM_001166356,NR_029417,NM_001166358,NR_029416,NM_001166359,NR_029415,NM_001166357,NR_048562 SHMT2,SHMT2,SHMT2,SHMT2,SHMT2,SHMT2,SHMT2,SHMT2,SHMT2 EXON Missense_S50L,Missense_S50L,Silent,Missense_S29L,Silent,Missense_S29L,Silent,Missense_S29L,Silent exm1015886 12 57625632 [A/G] NM_005412,NM_001166356,NR_029417,NM_001166358,NR_029416,NM_001166359,NR_029415,NM_001166357,NR_048562 SHMT2,SHMT2,SHMT2,SHMT2,SHMT2,SHMT2,SHMT2,SHMT2,SHMT2 EXON Missense_V150I,Missense_V150I,Silent,Missense_V129I,Silent,Missense_V129I,Silent,Missense_V129I,Silent exm1015896 12 57626282 [A/G] NM_005412,NM_001166356,NR_029417,NM_001166358,NR_029416,NM_001166359,NR_029415,NM_001166357,NR_048562 SHMT2,SHMT2,SHMT2,SHMT2,SHMT2,SHMT2,SHMT2,SHMT2,SHMT2 EXON Missense_R214Q,Missense_R204Q,Silent,Missense_R193Q,Silent,Missense_R193Q,Silent,Missense_R193Q,Silent exm1015898 12 57626347 [T/C] NM_005412,NM_001166356,NR_029417,NM_001166358,NR_029416,NM_001166359,NR_029415,NM_001166357,NR_048562 SHMT2,SHMT2,SHMT2,SHMT2,SHMT2,SHMT2,SHMT2,SHMT2,SHMT2 EXON Missense_R236C,Missense_R226C,Silent,Missense_R215C,Silent,Missense_R215C,Silent,Missense_R215C,Silent exm1015905 12 57626589 [A/G] NM_005412,NM_001166356,NR_029417,NM_001166358,NR_029416,NM_001166359,NR_029415,NM_001166357,NR_048562 SHMT2,SHMT2,SHMT2,SHMT2,SHMT2,SHMT2,SHMT2,SHMT2,SHMT2 EXON Missense_V274I,Missense_V264I,Silent,Missense_V253I,Silent,Missense_V253I,Silent,Missense_V253I,Silent exm1780625 12 57627000 [A/G] NM_005412,NM_001166356,NR_029417,NM_001166358,NR_029416,NM_001166359,NR_029415,NM_001166357,NR_048562 SHMT2,SHMT2,SHMT2,SHMT2,SHMT2,SHMT2,SHMT2,SHMT2,SHMT2 EXON Missense_V299M,Missense_V289M,Silent,Missense_V278M,Silent,Missense_V278M,Silent,Missense_V278M,Silent exm1015908 12 57627019 [A/G] NM_005412,NM_001166356,NR_029417,NM_001166358,NR_029416,NM_001166359,NR_029415,NM_001166357,NR_048562 SHMT2,SHMT2,SHMT2,SHMT2,SHMT2,SHMT2,SHMT2,SHMT2,SHMT2 EXON Missense_R305Q,Missense_R295Q,Silent,Missense_R284Q,Silent,Missense_R284Q,Silent,Missense_R284Q,Silent exm1780635 12 57627816 [A/G] NM_005412,NM_001166356,NR_029417,NM_001166358,NR_029416,NM_001166359,NR_029415,NM_001166357,NR_048562 SHMT2,SHMT2,SHMT2,SHMT2,SHMT2,SHMT2,SHMT2,SHMT2,SHMT2 EXON Missense_R437H,Missense_R427H,Silent,Missense_R416H,Silent,Missense_R416H,Silent,Missense_R416H,Silent exm1015932 12 57627830 [T/C] NM_005412,NM_001166356,NR_029417,NM_001166358,NR_029416,NM_001166359,NR_029415,NM_001166357,NR_048562 SHMT2,SHMT2,SHMT2,SHMT2,SHMT2,SHMT2,SHMT2,SHMT2,SHMT2 EXON Missense_R442W,Missense_R432W,Silent,Missense_R421W,Silent,Missense_R421W,Silent,Missense_R421W,Silent exm1015950 12 57629557 [T/C] NM_020142 NDUFA4L2 EXON Missense_R61H exm1015952 12 57629572 [A/G] NM_020142 NDUFA4L2 EXON Missense_P56L exm1015964 12 57630835 [A/G] NM_020142 NDUFA4L2 EXON Missense_R12W exm1015965 12 57630844 [A/G] NM_020142 NDUFA4L2 EXON Missense_R9C exm1015981 12 57637984 [A/G] NM_145064 STAC3 EXON Missense_F295L exm1015986 12 57638105 [G/C] NM_145064 STAC3 EXON Missense_W284S exm1015987 12 57638114 [T/C] NM_145064 STAC3 EXON Missense_N281S exm1015999 12 57642566 [A/G] NM_145064 STAC3 EXON Missense_R119C exm1016001 12 57642865 [T/C] NM_145064 STAC3 EXON Missense_K98R exm1016004 12 57642907 [A/C] NM_145064 STAC3 EXON Missense_L84R exm1016009 12 57643001 [T/C] NM_145064 STAC3 EXON Missense_V53M exm1016018 12 57648644 [T/C] NM_014925 R3HDM2 EXON Missense_R948H exm1016024 12 57648813 [T/C] NM_014925 R3HDM2 EXON Missense_M892V exm2220899 12 57662777 [C/G] NM_014925 R3HDM2 EXON Missense_S587R exm1016051 12 57662852 [C/G] NM_014925 R3HDM2 EXON Missense_M562I exm1016089 12 57704060 [T/C] NM_014925 R3HDM2 EXON Missense_R51H exm1016090 12 57704109 [T/C] NM_014925 R3HDM2 EXON Missense_T35A exm-rs1106766 12 57809456 [T/C] exm2220901 12 57828863 [A/G] NM_005538 INHBC EXON Missense_R65H exm1016106 12 57843159 [T/C] NM_005538 INHBC EXON Missense_V138A exm1016107 12 57843185 [A/G] NM_005538 INHBC EXON Missense_T147A exm1016108 12 57843242 [A/C] NM_005538 INHBC EXON Missense_T166P exm1016117 12 57843419 [A/G] NM_005538 INHBC EXON Missense_V225M exm1016127 12 57843711 [A/G] NM_005538 INHBC EXON Missense_R322Q exm1016132 12 57849372 [A/G] NM_031479 INHBE EXON Missense_R18Q exm1016134 12 57849399 [T/C] NM_031479 INHBE EXON Missense_P27L exm1016138 12 57849531 [T/C] NM_031479 INHBE EXON Missense_A71V exm2274609 12 57849921 [A/G] NM_031479 INHBE EXON Missense_T115A exm1016151 12 57849931 [T/C] NM_031479 INHBE EXON Missense_S118F exm1016167 12 57850249 [A/G] NM_031479 INHBE EXON Missense_R224Q exm1016182 12 57857485 [T/C] NM_001160045,NM_001167609,NM_005269 GLI1,GLI1,GLI1 EXON Silent,Missense_S4L,Missense_S4L exm1016194 12 57858576 [A/C] NM_001160045,NM_001167609,NM_005269 GLI1,GLI1,GLI1 EXON Silent,Missense_S64Y,Missense_S105Y exm1016203 12 57858914 [T/C] NM_001160045,NM_001167609,NM_005269 GLI1,GLI1,GLI1 EXON Missense_A9V,Missense_A96V,Missense_A137V exm1016212 12 57859427 [A/G] NM_001160045,NM_001167609,NM_005269 GLI1,GLI1,GLI1 EXON Missense_R63Q,Missense_R150Q,Missense_R191Q exm1016213 12 57859431 [A/G] NM_001160045,NM_001167609,NM_005269 GLI1,GLI1,GLI1 EXON Synonymous_E64E,Synonymous_E151E,Synonymous_E192E exm2251093 12 57859431 [A/G] NM_001160045,NM_001167609,NM_005269 GLI1,GLI1,GLI1 EXON Synonymous_E64E,Synonymous_E151E,Synonymous_E192E exm1016221 12 57859708 [T/C] NM_001160045,NM_001167609,NM_005269 GLI1,GLI1,GLI1 EXON Synonymous_H126H,Synonymous_H213H,Synonymous_H254H exm2251094 12 57860046 [T/C] NM_001160045,NM_001167609,NM_005269 GLI1,GLI1,GLI1 EXON Synonymous_H134H,Synonymous_H221H,Synonymous_H262H exm1016230 12 57861135 [T/C] NM_001160045,NM_001167609,NM_005269 GLI1,GLI1,GLI1 EXON Missense_S183L,Missense_S270L,Missense_S311L exm1016240 12 57861913 [A/G] NM_001160045,NM_001167609,NM_005269 GLI1,GLI1,GLI1 EXON Missense_R277Q,Missense_R364Q,Missense_R405Q exm1016242 12 57861960 [A/G] NM_001160045,NM_001167609,NM_005269 GLI1,GLI1,GLI1 EXON Missense_G293S,Missense_G380S,Missense_G421S exm1016248 12 57863391 [T/C] NM_001160045,NM_001167609,NM_005269 GLI1,GLI1,GLI1 EXON Missense_R368C,Missense_R455C,Missense_R496C exm1016254 12 57863433 [T/C] NM_001160045,NM_001167609,NM_005269 GLI1,GLI1,GLI1 EXON Missense_R382W,Missense_R469W,Missense_R510W exm1016261 12 57864118 [A/G] NM_001160045,NM_001167609,NM_005269 GLI1,GLI1,GLI1 EXON Missense_R404H,Missense_R491H,Missense_R532H exm1016263 12 57864126 [T/C] NM_001160045,NM_001167609,NM_005269 GLI1,GLI1,GLI1 EXON Missense_P407S,Missense_P494S,Missense_P535S exm1016272 12 57864321 [T/G] NM_001160045,NM_001167609,NM_005269 GLI1,GLI1,GLI1 EXON Missense_G472C,Missense_G559C,Missense_G600C exm1016274 12 57864409 [A/G] NM_001160045,NM_001167609,NM_005269 GLI1,GLI1,GLI1 EXON Missense_Y501C,Missense_Y588C,Missense_Y629C exm1016279 12 57864531 [T/G] NM_001160045,NM_001167609,NM_005269 GLI1,GLI1,GLI1 EXON Missense_A542S,Missense_A629S,Missense_A670S exm1016292 12 57864991 [A/G] NM_001160045,NM_001167609,NM_005269 GLI1,GLI1,GLI1 EXON Missense_G695E,Missense_G782E,Missense_G823E exm1016307 12 57865321 [A/G] NM_001160045,NM_001167609,NM_005269 GLI1,GLI1,GLI1 EXON Missense_G805D,Missense_G892D,Missense_G933D exm1016312 12 57865558 [T/G] NM_001160045,NM_001167609,NM_005269 GLI1,GLI1,GLI1 EXON Missense_G884V,Missense_G971V,Missense_G1012V exm1016315 12 57865725 [T/C] NM_001160045,NM_001167609,NM_005269 GLI1,GLI1,GLI1 EXON Missense_R940W,Missense_R1027W,Missense_R1068W exm1016319 12 57865752 [T/C] NM_001160045,NM_001167609,NM_005269 GLI1,GLI1,GLI1 EXON Missense_P949S,Missense_P1036S,Missense_P1077S exm1016323 12 57865821 [G/C] NM_001160045,NM_001167609,NM_005269 GLI1,GLI1,GLI1 EXON Missense_E972Q,Missense_E1059Q,Missense_E1100Q exm1016327 12 57866317 [T/G] NM_001080156,NM_001080157,NM_032496 ARHGAP9,ARHGAP9,ARHGAP9 EXON Missense_T543P,Silent,Missense_T727P exm1016335 12 57867836 [T/C] NM_001080156,NM_001080157,NM_032496 ARHGAP9,ARHGAP9,ARHGAP9 EXON Missense_R452H,Missense_R636H,Missense_R636H exm1016338 12 57867885 [A/G] NM_001080156,NM_001080157,NM_032496 ARHGAP9,ARHGAP9,ARHGAP9 EXON Missense_R436W,Missense_R620W,Missense_R620W exm1780789 12 57868673 [T/C] NM_001080156,NM_001080157,NM_032496 ARHGAP9,ARHGAP9,ARHGAP9 EXON Missense_A362T,Missense_A546T,Missense_A546T exm1016378 12 57869924 [A/C] NM_001080156,NM_001080157,NM_032496 ARHGAP9,ARHGAP9,ARHGAP9 EXON Missense_S197I,Missense_S381I,Missense_S381I exm1016381 12 57870155 [A/C] NM_001080156,NM_001080157,NM_032496 ARHGAP9,ARHGAP9,ARHGAP9 EXON Missense_S186A,Missense_S370A,Missense_S370A exm1016384 12 57870388 [G/C] NM_001080156,NM_001080157,NM_032496 ARHGAP9,ARHGAP9,ARHGAP9 EXON Missense_G153A,Missense_G337A,Missense_G337A exm1016398 12 57870724 [T/C] NM_001080156,NM_001080157,NM_032496 ARHGAP9,ARHGAP9,ARHGAP9 EXON Missense_R114H,Missense_R298H,Missense_R298H exm1016401 12 57870740 [T/G] NM_001080156,NM_001080157,NM_032496 ARHGAP9,ARHGAP9,ARHGAP9 EXON Missense_L109I,Missense_L293I,Missense_L293I exm1016407 12 57871049 [A/G] NM_001080156,NM_001080157,NM_032496 ARHGAP9,ARHGAP9,ARHGAP9 EXON Missense_P70S,Missense_P254S,Missense_P254S exm1016409 12 57871243 [A/G] NM_001080156,NM_001080157,NM_032496 ARHGAP9,ARHGAP9,ARHGAP9 EXON Missense_T68M,Missense_T252M,Missense_T252M exm1016412 12 57871262 [A/G] NM_001080156,NM_001080157,NM_032496 ARHGAP9,ARHGAP9,ARHGAP9 EXON Missense_R62C,Missense_R246C,Missense_R246C exm1016418 12 57871388 [A/G] NM_001080156,NM_001080157,NM_032496 ARHGAP9,ARHGAP9,ARHGAP9 EXON Missense_P20S,Missense_P204S,Missense_P204S exm1016430 12 57872345 [A/G] NM_001080157,NM_032496 ARHGAP9,ARHGAP9 EXON Missense_P171L,Missense_P171L exm1016431 12 57872372 [T/C] NM_001080157,NM_032496 ARHGAP9,ARHGAP9 EXON Missense_G162E,Missense_G162E exm1016435 12 57872447 [T/C] NM_001080157,NM_032496 ARHGAP9,ARHGAP9 EXON Missense_R137H,Missense_R137H exm1016436 12 57872448 [A/G] NM_001080157,NM_032496 ARHGAP9,ARHGAP9 EXON Missense_R137C,Missense_R137C exm1016442 12 57872537 [A/G] NM_001080157,NM_032496 ARHGAP9,ARHGAP9 EXON Missense_P107L,Missense_P107L exm1016453 12 57873012 [T/C] NM_001080157,NM_032496 ARHGAP9,ARHGAP9 EXON Missense_D60N,Missense_D60N exm2275391 12 57873135 [A/G] NM_001080157,NM_032496 ARHGAP9,ARHGAP9 EXON Nonsense_R19X,Nonsense_R19X exm1016461 12 57873176 [T/C] NM_001080157,NM_032496 ARHGAP9,ARHGAP9 EXON Missense_R5Q,Missense_R5Q exm2220911 12 57873423 [T/A] NM_001080157,NM_032496 ARHGAP9,ARHGAP9 EXON Silent,Silent exm2220912 12 57883087 [T/C] NM_004990 MARS EXON Missense_L80F exm1016496 12 57884116 [T/C] NM_004990 MARS EXON Missense_P206L exm1016497 12 57884125 [A/G] NM_004990 MARS EXON Missense_S209N exm1016499 12 57884160 [A/G] NM_004990 MARS EXON Missense_E221K exm1016500 12 57884337 [T/C] NM_004990 MARS EXON Missense_T227I exm1016504 12 57884403 [T/C] NM_004990 MARS EXON Missense_P249L exm1016516 12 57892023 [T/C] NM_004990 MARS EXON Missense_I285T exm1016521 12 57892301 [A/C] NM_004990 MARS EXON Missense_P329H exm1016531 12 57894139 [A/G] NM_004990 MARS EXON Missense_R376Q exm1016541 12 57905500 [A/G] NM_004990 MARS EXON Missense_E463G exm1016543 12 57905559 [T/C] NM_004990 MARS EXON Missense_R483C exm1016564 12 57906593 [A/G] NM_004990 MARS EXON Missense_D605N exm1016575 12 57908753 [T/C] NM_004990 MARS EXON Missense_R706C exm1016577 12 57908775 [A/G] NM_004990 MARS EXON Missense_R713Q exm1016579 12 57908817 [A/G] NM_004990 MARS EXON Missense_R727Q exm2220916 12 57909051 [C/G] NM_004990 MARS EXON Missense_P775A exm2220917 12 57909054 [C/G] NM_004990 MARS EXON Missense_P776A exm1016595 12 57909118 [T/C] NM_004990 MARS EXON Missense_T797I exm1016596 12 57909119 [A/C] NM_004990 MARS EXON Synonymous_T797T exm1780863 12 57910034 [A/C] NM_004990 MARS EXON Missense_T824P exm1016603 12 57910055 [A/G] NM_004990 MARS EXON Missense_V831I exm1016612 12 57910332 [T/C] NM_004990 MARS EXON Missense_P891S exm2220918 12 57910354 [A/C] NM_004990 MARS EXON Missense_K898T exm1016614 12 57910632 [T/C] NM_001195055,NM_001195054,NM_001195057,NM_004083,NM_001195053,NM_001195056 DDIT3,DDIT3,DDIT3,DDIT3,DDIT3,DDIT3 EXON Missense_R180Q,Missense_R180Q,Missense_R157Q,Missense_R157Q,Missense_R180Q,Missense_R180Q exm1016616 12 57910662 [T/C] NM_001195055,NM_001195054,NM_001195057,NM_004083,NM_001195053,NM_001195056 DDIT3,DDIT3,DDIT3,DDIT3,DDIT3,DDIT3 EXON Missense_R170H,Missense_R170H,Missense_R147H,Missense_R147H,Missense_R170H,Missense_R170H exm1016618 12 57910666 [T/C] NM_001195055,NM_001195054,NM_001195057,NM_004083,NM_001195053,NM_001195056 DDIT3,DDIT3,DDIT3,DDIT3,DDIT3,DDIT3 EXON Missense_E169K,Missense_E169K,Missense_E146K,Missense_E146K,Missense_E169K,Missense_E169K exm1016640 12 57911212 [A/G] NM_001195055,NM_001195054,NM_001195057,NM_004083,NM_001195053,NM_001195056 DDIT3,DDIT3,DDIT3,DDIT3,DDIT3,DDIT3 EXON Missense_F16S,Missense_F16S,Silent,Silent,Missense_F16S,Missense_F16S exm1016641 12 57911246 [G/C] NM_001195055,NM_001195054,NM_001195057,NM_004083,NM_001195053,NM_001195056 DDIT3,DDIT3,DDIT3,DDIT3,DDIT3,DDIT3 EXON Missense_P5A,Missense_P5A,Silent,Silent,Missense_P5A,Missense_P5A exm1016655 12 57918770 [T/C] NM_052897 MBD6 EXON Missense_P84L exm1016662 12 57919154 [T/C] NM_052897 MBD6 EXON Missense_F135L exm1016675 12 57919572 [T/C] NM_052897 MBD6 EXON Missense_P274L exm1016687 12 57919829 [T/C] NM_052897 MBD6 EXON Missense_R360C exm1016692 12 57919860 [T/C] NM_052897 MBD6 EXON Missense_P370L exm1016712 12 57920723 [A/G] NM_052897 MBD6 EXON Missense_V599M exm1016722 12 57920991 [G/C] NM_052897 MBD6 EXON Missense_P688R exm1016728 12 57921405 [T/C] NM_052897 MBD6 EXON Missense_P733L exm2274611 12 57921966 [A/C] NM_052897 MBD6 EXON Missense_P815T exm1016742 12 57921969 [A/G] NM_052897 MBD6 EXON Missense_E816K exm1016750 12 57922164 [C/G] NM_052897 MBD6 EXON Missense_G881R exm2274612 12 57922266 [T/C] NM_052897 MBD6 EXON Missense_H915Y exm1016763 12 57922477 [A/G] NM_052897 MBD6 EXON Missense_R950H exm1016765 12 57922485 [T/C] NM_052897 MBD6 EXON Missense_R953C exm1016767 12 57922754 [T/C] NM_052897 MBD6 EXON Missense_R967C exm1016771 12 57922979 [T/C] NM_052897 MBD6 EXON Missense_R992C exm1016772 12 57922995 [A/G] NM_052897 MBD6 EXON Missense_K997R exm1016776 12 57924486 [T/G] NM_006400,NM_001261413,NM_001261412 DCTN2,DCTN2,DCTN2 EXON Missense_E398A,Missense_K398Q,Missense_K400Q exm1016789 12 57926558 [T/G] NM_006400,NM_001261413,NM_001261412 DCTN2,DCTN2,DCTN2 EXON Missense_P271T,Synonymous_A270A,Synonymous_A272A exm1016790 12 57926560 [T/C] NM_006400,NM_001261413,NM_001261412 DCTN2,DCTN2,DCTN2 EXON Missense_R270H,Missense_A270T,Missense_A272T exm1016793 12 57926768 [A/G] NM_006400,NM_001261413,NM_001261412 DCTN2,DCTN2,DCTN2 EXON Synonymous_H258H,Missense_M258T,Missense_M260T exm1016804 12 57928149 [T/A] NM_006400,NM_001261413,NM_001261412 DCTN2,DCTN2,DCTN2 EXON Missense_C151S,Synonymous_V150V,Synonymous_V152V exm1016815 12 57939824 [A/G] NM_006400,NM_001261413,NM_001261412 DCTN2,DCTN2,DCTN2 EXON Missense_A31V,Missense_A31V,Missense_A31V exm1016848 12 57962833 [A/G] NM_004984 KIF5A EXON Missense_A268T exm1016858 12 57963802 [C/G] NM_004984 KIF5A EXON Missense_G384R exm-rs1678542 12 57968715 [G/C] NM_004984 KIF5A Silent exm1016904 12 57970617 [A/G] NM_004984 KIF5A EXON Missense_E758K exm1016927 12 57975281 [A/G] NM_004984 KIF5A EXON Missense_T947A exm1016931 12 57975670 [T/C] NM_004984 KIF5A EXON Missense_T976I exm1016933 12 57975700 [T/C] NM_004984 KIF5A EXON Missense_P986L exm1016941 12 57985185 [T/A] NM_001146260,NM_001146259,NM_024779,NM_001146258 PIP4K2C,PIP4K2C,PIP4K2C,PIP4K2C EXON Missense_V38E,Missense_V38E,Missense_V38E,Missense_V38E exm1016951 12 57988913 [A/G] NM_001146260,NM_001146259,NM_024779,NM_001146258 PIP4K2C,PIP4K2C,PIP4K2C,PIP4K2C EXON Missense_N93D,Silent,Missense_N93D,Missense_N93D exm1016961 12 57989740 [T/C] NM_001146260,NM_001146259,NM_024779,NM_001146258 PIP4K2C,PIP4K2C,PIP4K2C,PIP4K2C EXON Silent,Missense_R129W,Missense_R147W,Missense_R147W exm1016966 12 57992902 [T/C] NM_001146260,NM_001146259,NM_024779,NM_001146258 PIP4K2C,PIP4K2C,PIP4K2C,PIP4K2C EXON Nonsense_R142X,Nonsense_R172X,Nonsense_R190X,Nonsense_R190X exm1016970 12 57992962 [T/C] NM_001146260,NM_001146259,NM_024779,NM_001146258 PIP4K2C,PIP4K2C,PIP4K2C,PIP4K2C EXON Missense_R162C,Missense_R192C,Missense_R210C,Missense_R210C exm1016986 12 57994841 [A/C] NM_001146260,NM_001146259,NM_024779,NM_001146258 PIP4K2C,PIP4K2C,PIP4K2C,PIP4K2C EXON Missense_Y306S,Missense_Y336S,Missense_Y354S,Missense_Y354S exm1781019 12 57994850 [A/G] NM_001146260,NM_001146259,NM_024779,NM_001146258 PIP4K2C,PIP4K2C,PIP4K2C,PIP4K2C EXON Missense_R309Q,Missense_R339Q,Missense_R357Q,Missense_R357Q exm2251096 12 57995089 [T/C] NM_001146260,NM_001146259,NM_024779,NM_001146258 PIP4K2C,PIP4K2C,PIP4K2C,PIP4K2C EXON Synonymous_A333A,Synonymous_A363A,Synonymous_A381A,Synonymous_A381A exm1017006 12 58000885 [A/G] NM_178502 DTX3 EXON Missense_K105R exm1017025 12 58001373 [A/G] NM_178502 DTX3 EXON Missense_V268I exm1017045 12 58004386 [A/G] NM_001111270 ARHGEF25 EXON Missense_T45A exm1017046 12 58004404 [A/C] NM_001111270 ARHGEF25 EXON Missense_R51S exm1017056 12 58006719 [A/G] NM_001111270,NR_046223,NM_182947 ARHGEF25,ARHGEF25,ARHGEF25 EXON Missense_Y74C,Silent,Missense_Y35C exm1017064 12 58006779 [G/C] NM_001111270,NR_046223,NM_182947 ARHGEF25,ARHGEF25,ARHGEF25 EXON Missense_P94R,Silent,Missense_P55R exm1017068 12 58006838 [A/G] NM_001111270,NR_046223,NM_182947 ARHGEF25,ARHGEF25,ARHGEF25 EXON Missense_V114I,Silent,Missense_V75I exm1017069 12 58006864 [A/T] NM_001111270,NR_046223,NM_182947 ARHGEF25,ARHGEF25,ARHGEF25 EXON Missense_D122E,Silent,Missense_D83E exm1017085 12 58007901 [A/G] NM_001111270,NR_046223,NM_182947 ARHGEF25,ARHGEF25,ARHGEF25 EXON Missense_D258N,Silent,Missense_D219N exm1017109 12 58009466 [T/C] NM_001111270,NR_046223,NM_182947 ARHGEF25,ARHGEF25,ARHGEF25 EXON Missense_P443S,Silent,Missense_P404S exm1017120 12 58009799 [T/C] NM_001111270,NR_046223,NM_182947 ARHGEF25,ARHGEF25,ARHGEF25 EXON Synonymous_N512N,Silent,Synonymous_N473N exm1017124 12 58010132 [A/G] NM_001111270,NR_046223,NM_182947 ARHGEF25,ARHGEF25,ARHGEF25 EXON Missense_G535R,Silent,Missense_G496R exm1017126 12 58010163 [A/G] NM_001111270,NR_046223,NM_182947 ARHGEF25,ARHGEF25,ARHGEF25 EXON Missense_Q545R,Silent,Missense_Q506R exm1017148 12 58014187 [T/C] NM_133489 SLC26A10 EXON Missense_P62S exm1017149 12 58014193 [G/C] NM_133489 SLC26A10 EXON Missense_L64V exm1017173 12 58015483 [T/C] NM_133489 SLC26A10 EXON Missense_S189F exm1017174 12 58015494 [A/G] NM_133489 SLC26A10 EXON Missense_A193T exm1017179 12 58015596 [A/C] NM_133489 SLC26A10 EXON Missense_P227T exm1017181 12 58015624 [T/G] NM_133489 SLC26A10 EXON Missense_L236W exm1017183 12 58016624 [C/G] NM_133489 SLC26A10 EXON Missense_D282E exm1017187 12 58016690 [G/C] NM_133489 SLC26A10 EXON Missense_K304N exm1017193 12 58016837 [A/G] NM_133489 SLC26A10 EXON Missense_I324V exm1017199 12 58016890 [T/G] NM_133489 SLC26A10 EXON Missense_N341K exm1017205 12 58017665 [A/G] NM_133489 SLC26A10 EXON Nonsense_W367X exm1017211 12 58017860 [A/G] NM_133489 SLC26A10 EXON Nonsense_W402X exm1017222 12 58018662 [T/C] NM_133489 SLC26A10 EXON Missense_P414L exm1017223 12 58018668 [T/G] NM_133489 SLC26A10 EXON Missense_L416R exm1017224 12 58018709 [T/C] NM_133489 SLC26A10 EXON Missense_R430C exm1017225 12 58018721 [T/C] NM_133489 SLC26A10 EXON Missense_R434C exm1017232 12 58018928 [T/C] NM_133489 SLC26A10 EXON Missense_P456L exm1017234 12 58018940 [T/G] NM_133489 SLC26A10 Silent exm1017239 12 58019079 [T/C] NM_133489 SLC26A10 EXON Missense_A480V exm1017248 12 58019197 [T/C] NM_133489 SLC26A10 EXON Missense_A493V exm1017252 12 58019208 [T/C] NM_133489 SLC26A10 EXON Nonsense_R497X exm1017256 12 58019236 [T/C] NM_133489 SLC26A10 EXON Missense_A506V exm1017258 12 58019388 [T/C] NM_133489 SLC26A10 EXON Missense_R518W exm1017262 12 58019467 [A/G] NM_133489 SLC26A10 EXON Missense_S544N exm1017265 12 58019511 [A/C] NM_133489 SLC26A10 EXON Missense_L559M exm1017270 12 58020582 [A/G] NM_001276468,NM_001478 B4GALNT1,B4GALNT1 EXON Missense_A461V,Missense_A516V exm1017271 12 58020584 [T/C] NM_001276468,NM_001478 B4GALNT1,B4GALNT1 EXON Missense_M460I,Missense_M515I exm1017290 12 58022000 [T/C] NM_001276468,NM_001478 B4GALNT1,B4GALNT1 EXON Missense_K295E,Missense_K350E exm1017300 12 58022585 [T/C] NM_001276468,NM_001478 B4GALNT1,B4GALNT1 EXON Missense_T250A,Missense_T305A exm1017303 12 58022618 [T/C] NM_001276468,NM_001478 B4GALNT1,B4GALNT1 EXON Missense_A239T,Missense_A294T exm1017307 12 58022863 [A/C] NM_001276468,NM_001478 B4GALNT1,B4GALNT1 EXON Missense_R205L,Missense_R260L exm1017309 12 58022875 [A/G] NM_001276468,NM_001478 B4GALNT1,B4GALNT1 EXON Missense_P201L,Missense_P256L exm1017316 12 58024278 [G/C] NM_001276468,NM_001478,NM_001276469 B4GALNT1,B4GALNT1,B4GALNT1 EXON Missense_G117R,Missense_G172R,Missense_G172R exm1017325 12 58024986 [A/G] NM_001276468,NM_001478,NM_001276469 B4GALNT1,B4GALNT1,B4GALNT1 EXON Silent,Missense_S127L,Missense_S127L exm1017326 12 58024995 [T/G] NM_001276468,NM_001478,NM_001276469 B4GALNT1,B4GALNT1,B4GALNT1 EXON Silent,Missense_A124D,Missense_A124D exm-rs10876993 12 58062667 [T/C] exm2271735 12 58087737 [T/G] exm1017342 12 58087958 [C/G] NM_006812,NM_001017956,NM_001261420,NM_001261422,NM_001017958,NM_001261423,NM_001017957,NM_001261421 OS9,OS9,OS9,OS9,OS9,OS9,OS9,OS9 EXON Missense_T5R,Missense_T5R,Missense_T5R,Missense_T5R,Missense_T5R,Missense_T5R,Missense_T5R,Missense_T5R exm1017353 12 58088678 [C/G] NM_006812,NM_001017956,NM_001261420,NM_001261422,NM_001017958,NM_001261423,NM_001017957,NM_001261421 OS9,OS9,OS9,OS9,OS9,OS9,OS9,OS9 EXON Missense_S103T,Missense_S103T,Missense_S103T,Missense_S103T,Missense_S103T,Silent,Missense_S103T,Missense_S103T exm1017365 12 58090098 [T/C] NM_006812,NM_001017956,NM_001261420,NM_001261422,NM_001017958,NM_001261423,NM_001017957,NM_001261421 OS9,OS9,OS9,OS9,OS9,OS9,OS9,OS9 EXON Missense_T174I,Missense_T174I,Missense_T174I,Silent,Missense_T174I,Missense_T115I,Missense_T174I,Silent exm1781164 12 58110215 [A/G] NM_006812,NM_001017956,NM_001261420,NM_001261422,NM_001017958,NM_001261423,NM_001017957,NM_001261421 OS9,OS9,OS9,OS9,OS9,OS9,OS9,OS9 EXON Missense_D305N,Missense_D305N,Missense_D306N,Missense_D253N,Missense_D305N,Missense_D246N,Missense_D305N,Missense_D273N exm1781165 12 58110477 [A/G] NM_006812,NM_001017956,NM_001261420,NM_001261422,NM_001017958,NM_001261423,NM_001017957,NM_001261421 OS9,OS9,OS9,OS9,OS9,OS9,OS9,OS9 EXON Missense_E332G,Missense_E332G,Missense_E333G,Missense_E280G,Missense_E332G,Missense_E273G,Missense_E332G,Missense_E300G exm1017408 12 58112155 [T/C] NM_006812,NM_001017956,NM_001261420,NM_001261422,NM_001017958,NM_001261423,NM_001017957,NM_001261421 OS9,OS9,OS9,OS9,OS9,OS9,OS9,OS9 EXON Missense_S454L,Missense_S454L,Missense_S455L,Missense_S402L,Missense_S454L,Missense_S395L,Missense_S454L,Missense_S422L exm1017412 12 58112821 [T/C] NM_006812,NM_001017956,NM_001261420,NM_001261422,NM_001017958,NM_001261423,NM_001017957,NM_001261421 OS9,OS9,OS9,OS9,OS9,OS9,OS9,OS9 EXON Missense_R486W,Missense_R486W,Missense_R487W,Missense_R434W,Missense_R471W,Missense_R412W,Missense_R471W,Missense_R454W exm1017417 12 58112897 [A/G] NM_006812,NM_001017956,NM_001261420,NM_001261422,NM_001017958,NM_001261423,NM_001017957,NM_001261421 OS9,OS9,OS9,OS9,OS9,OS9,OS9,OS9 EXON Missense_E511G,Missense_E511G,Missense_E512G,Missense_E459G,Missense_E496G,Missense_E437G,Missense_E496G,Missense_E479G exm1017420 12 58113902 [A/G] NM_006812,NM_001017956,NM_001261420,NM_001261422,NM_001017958,NM_001261423,NM_001017957,NM_001261421 OS9,OS9,OS9,OS9,OS9,OS9,OS9,OS9 EXON Missense_V541I,Silent,Silent,Silent,Missense_V526I,Silent,Silent,Silent exm1017422 12 58113927 [A/G] NM_006812,NM_001017956,NM_001261420,NM_001261422,NM_001017958,NM_001261423,NM_001017957,NM_001261421 OS9,OS9,OS9,OS9,OS9,OS9,OS9,OS9 EXON Missense_R549H,Silent,Silent,Silent,Missense_R534H,Silent,Silent,Silent exm1017444 12 58120775 [G/C] NM_014770,NM_001122772,NR_027032 AGAP2,AGAP2,LOC100130776 EXON Missense_I750M,Missense_I1106M,Silent exm1017472 12 58124304 [T/C] NM_014770,NM_001122772 AGAP2,AGAP2 EXON Missense_R465Q,Missense_R801Q exm2220932 12 58125149 [A/G] NM_014770,NM_001122772 AGAP2,AGAP2 EXON Synonymous_N379N,Synonymous_N715N exm1781209 12 58126761 [A/G] NM_014770,NM_001122772 AGAP2,AGAP2 EXON Synonymous_D181D,Synonymous_D517D exm1017526 12 58128166 [A/G] NM_014770,NM_001122772 AGAP2,AGAP2 EXON Missense_M110T,Missense_M446T exm1017527 12 58128378 [G/C] NM_014770,NM_001122772 AGAP2,AGAP2 EXON Missense_E102Q,Missense_E438Q exm1017538 12 58130889 [T/G] NM_014770,NM_001122772 AGAP2,AGAP2 EXON Silent,Missense_L381M exm1017547 12 58131069 [G/C] NM_014770,NM_001122772 AGAP2,AGAP2 EXON Silent,Missense_L321V exm1017553 12 58131182 [A/G] NM_014770,NM_001122772 AGAP2,AGAP2 EXON Silent,Missense_P283L exm1017554 12 58131251 [T/G] NM_014770,NM_001122772 AGAP2,AGAP2 EXON Silent,Missense_A260D exm1017577 12 58135823 [A/G] NM_014770 AGAP2 EXON Missense_A11V exm1017578 12 58135836 [A/T] NM_014770 AGAP2 EXON Missense_F7I exm1017583 12 58138971 [A/G] NM_005981 TSPAN31 EXON Missense_A12T exm1017598 12 58140003 [C/G] NM_005981 TSPAN31 EXON Missense_I92M exm1017612 12 58143008 [A/G] NM_000075 CDK4 EXON Missense_S259L exm1017620 12 58144446 [A/G] NM_000075 CDK4 EXON Missense_R209C exm1017637 12 58145379 [T/C] NM_000075 CDK4 EXON Missense_N41S exm1017661 12 58152351 [A/C] NM_138396 MARCH9 EXON Missense_I238L exm1017668 12 58152556 [A/G] NM_138396 MARCH9 EXON Missense_R306Q exm1017673 12 58152613 [A/G] NM_138396 MARCH9 EXON Missense_R325Q exm1017674 12 58152628 [A/G] NM_138396 MARCH9 EXON Missense_R330H exm1017678 12 58156947 [T/C] NM_000785 CYP27B1 EXON Missense_N502S exm1017687 12 58157930 [T/C] NM_000785 CYP27B1 EXON Missense_R389H exm1017697 12 58158537 [A/C] NM_000785 CYP27B1 EXON Synonymous_T321T exm2251099 12 58158558 [T/C] NM_000785 CYP27B1 EXON Synonymous_L314L exm1017713 12 58159173 [G/C] NM_000785 CYP27B1 EXON Missense_V166L exm1017716 12 58159791 [T/C] NM_000785 CYP27B1 EXON Missense_A129T exm1017730 12 58160785 [A/G] NM_000785 CYP27B1 EXON Missense_R14C exm-rs703842 12 58162739 [A/G] NM_023033,NM_005371 METTL1,METTL1 EXON Silent,Silent exm1017755 12 58163611 [T/C] NM_023033,NM_005371 METTL1,METTL1 EXON Silent,Missense_A135T exm1781285 12 58163659 [A/G] NM_023033,NM_005371 METTL1,METTL1 EXON Silent,Missense_R119W exm1017789 12 58166590 [T/C] NM_206914,NM_015433 METTL21B,METTL21B EXON Missense_S28L,Missense_S28L exm1017794 12 58166830 [G/C] NM_206914,NM_015433 METTL21B,METTL21B EXON Missense_Q70E,Missense_Q70E exm1017808 12 58174038 [C/G] NM_206914,NM_015433 METTL21B,METTL21B EXON Missense_R143S,Missense_G97A exm1017812 12 58174275 [T/C] NM_206914,NM_015433 METTL21B,METTL21B EXON Silent,Missense_I176T exm1017819 12 58174368 [A/G] NM_206914,NM_015433 METTL21B,METTL21B EXON Silent,Missense_R207Q exm1017822 12 58176589 [T/C] NM_001172697,NM_001172696,NM_001172695,NM_005726 TSFM,TSFM,TSFM,TSFM EXON Missense_S2L,Missense_S2L,Missense_S2L,Missense_S2L exm1017854 12 58186824 [C/G] NM_001172697,NM_001172696,NM_001172695,NM_005726 TSFM,TSFM,TSFM,TSFM EXON Missense_G180A,Missense_G201A,Silent,Missense_G180A exm1017861 12 58190076 [T/G] NM_001172697,NM_001172696,NM_001172695,NM_005726 TSFM,TSFM,TSFM,TSFM EXON Silent,Missense_V251L,Silent,Missense_V230L exm1017864 12 58190142 [A/G] NM_001172697,NM_001172696,NM_001172695,NM_005726 TSFM,TSFM,TSFM,TSFM EXON Silent,Missense_V273I,Silent,Missense_V252I exm1017867 12 58190148 [T/C] NM_001172697,NM_001172696,NM_001172695,NM_005726 TSFM,TSFM,TSFM,TSFM EXON Silent,Missense_R275C,Silent,Missense_R254C exm1017870 12 58190184 [A/C] NM_001172697,NM_001172696,NM_001172695,NM_005726 TSFM,TSFM,TSFM,TSFM EXON Silent,Missense_L287I,Silent,Missense_L266I exm1017871 12 58190185 [T/A] NM_001172697,NM_001172696,NM_001172695,NM_005726 TSFM,TSFM,TSFM,TSFM EXON Silent,Missense_L287H,Silent,Missense_L266H exm1017872 12 58190202 [G/C] NM_001172697,NM_001172696,NM_001172695,NM_005726 TSFM,TSFM,TSFM,TSFM EXON Silent,Missense_D293H,Silent,Missense_D272H exm1017875 12 58190244 [T/C] NM_001172697,NM_001172696,NM_001172695,NM_005726 TSFM,TSFM,TSFM,TSFM EXON Silent,Nonsense_Q307X,Silent,Nonsense_Q286X exm1017882 12 58193685 [A/G] NM_001172697,NM_006576 TSFM,AVIL EXON Silent,Missense_L747F exm1017897 12 58196095 [T/C] NM_001172697,NM_006576 TSFM,AVIL EXON Silent,Missense_E667K exm1017900 12 58196118 [A/G] NM_001172697,NM_006576 TSFM,AVIL EXON Silent,Missense_I659T exm1017906 12 58197143 [A/G] NM_006576 AVIL EXON Missense_R617C exm2251100 12 58197363 [T/C] NM_006576 AVIL EXON Synonymous_E587E exm1017921 12 58200193 [G/C] NM_006576 AVIL EXON Missense_D541H exm1017935 12 58201263 [T/C] NM_006576 AVIL EXON Missense_A448T exm1017939 12 58201414 [T/C] NM_006576 AVIL EXON Missense_E431K exm1017941 12 58201465 [A/G] NM_006576 AVIL EXON Missense_W414R exm1017945 12 58201505 [C/G] NM_006576 AVIL EXON Missense_W400C exm1017953 12 58202279 [T/C] NM_006576 AVIL EXON Missense_N331S exm1017955 12 58202307 [A/G] NM_006576 AVIL EXON Missense_P322S exm1781353 12 58203421 [T/C] NM_006576 AVIL EXON Missense_A300T exm1017962 12 58203424 [T/C] NM_006576 AVIL EXON Missense_G299R exm1781355 12 58203471 [T/C] NM_006576 AVIL EXON Missense_Y283C exm1017966 12 58204145 [T/C] NM_006576 AVIL EXON Missense_I250V exm2220947 12 58204205 [A/G] NM_006576 AVIL EXON Missense_R230C exm1017971 12 58204283 [T/C] NM_006576 AVIL EXON Missense_K204E exm1017972 12 58204288 [T/C] NM_006576 AVIL EXON Missense_R202H exm1017975 12 58204298 [A/G] NM_006576 AVIL EXON Nonsense_R199X exm1017976 12 58204309 [T/C] NM_006576 AVIL EXON Missense_R195Q exm1017978 12 58204606 [T/C] NM_006576 AVIL EXON Missense_R184H exm1781360 12 58204613 [T/C] NM_006576 AVIL EXON Missense_G182R exm1017980 12 58204673 [T/C] NM_006576 AVIL EXON Missense_V162I exm1017995 12 58207067 [T/C] NM_006576 AVIL EXON Missense_R94Q exm1018012 12 58207955 [T/C] NM_006576 AVIL EXON Missense_D41N exm1018013 12 58207969 [T/C] NM_006576 AVIL EXON Missense_N36S exm1018014 12 58209762 [A/G] NM_006576 AVIL EXON Missense_I21T exm1018021 12 58217432 [T/C] NM_005730 CTDSP2 EXON Missense_G257R exm1018023 12 58217450 [T/C] NM_005730 CTDSP2 EXON Missense_I251V exm-rs4760332 12 58222672 [A/C] NM_005730 CTDSP2 Silent exm2220949 12 58223307 [T/C] NM_005730 CTDSP2 EXON Missense_R46H exm2271845 12 58301062 [T/C] exm1018075 12 58335626 [T/A] NM_033276 XRCC6BP1 EXON Missense_S48C exm1018076 12 58335671 [A/G] NM_033276 XRCC6BP1 EXON Missense_N63D exm1781391 12 58340797 [T/C] NM_033276 XRCC6BP1 EXON Missense_H85Y exm2251101 12 58340808 [T/C] NM_033276 XRCC6BP1 EXON Synonymous_C88C exm1018080 12 58340855 [T/C] NM_033276 XRCC6BP1 EXON Missense_S104F exm1018092 12 58347442 [T/G] NM_033276 XRCC6BP1 EXON Missense_R169S exm1018093 12 58350479 [T/C] NM_033276 XRCC6BP1 EXON Nonsense_R183X exm1018099 12 58350618 [T/C] NM_033276 XRCC6BP1 EXON Missense_A229V exm1781399 12 58350647 [T/C] NM_033276 XRCC6BP1 EXON Missense_R239C exm1018103 12 58350648 [A/G] NM_033276 XRCC6BP1 EXON Missense_R239H exm1018104 12 58350653 [T/C] NM_033276 XRCC6BP1 EXON Missense_R241W exm2251103 12 58801027 [T/C] exm2260093 12 58814968 [A/G] exm2271737 12 58984659 [T/G] exm-rs11172782 12 59259628 [A/G] exm1018118 12 59266566 [C/G] NM_153377,NM_001136051 LRIG3,LRIG3 EXON Missense_L1050V,Missense_L990V exm1018121 12 59267922 [A/C] NM_153377,NM_001136051 LRIG3,LRIG3 EXON Missense_M1010I,Missense_M950I exm1018129 12 59268000 [T/G] NM_153377,NM_001136051 LRIG3,LRIG3 EXON Missense_S984R,Missense_S924R exm1018142 12 59268346 [T/C] NM_153377,NM_001136051 LRIG3,LRIG3 EXON Missense_H902R,Missense_H842R exm1018145 12 59270228 [T/A] NM_153377,NM_001136051 LRIG3,LRIG3 EXON Missense_S898R,Missense_S838R exm1018148 12 59270289 [T/C] NM_153377,NM_001136051 LRIG3,LRIG3 EXON Missense_S878N,Missense_S818N exm1018157 12 59271287 [T/C] NM_153377,NM_001136051 LRIG3,LRIG3 EXON Missense_V811M,Missense_V751M exm1781450 12 59271404 [T/C] NM_153377,NM_001136051 LRIG3,LRIG3 EXON Missense_T772A,Missense_T712A exm2220952 12 59271512 [A/G] NM_153377,NM_001136051 LRIG3,LRIG3 EXON Missense_P736S,Missense_P676S exm1018183 12 59274410 [T/C] NM_153377,NM_001136051 LRIG3,LRIG3 EXON Missense_N585S,Missense_N525S exm1018186 12 59274465 [A/G] NM_153377,NM_001136051 LRIG3,LRIG3 EXON Missense_R567W,Missense_R507W exm1018190 12 59274638 [A/G] NM_153377,NM_001136051 LRIG3,LRIG3 EXON Missense_S509L,Missense_S449L exm1781457 12 59274651 [A/G] NM_153377,NM_001136051 LRIG3,LRIG3 EXON Missense_P505S,Missense_P445S exm1018195 12 59276752 [A/G] NM_153377,NM_001136051 LRIG3,LRIG3 EXON Missense_A460V,Missense_A400V exm1018197 12 59276786 [T/C] NM_153377,NM_001136051 LRIG3,LRIG3 EXON Missense_D449N,Missense_D389N exm1018198 12 59276796 [T/G] NM_153377,NM_001136051 LRIG3,LRIG3 EXON Missense_S445R,Missense_S385R exm1018205 12 59279656 [T/C] NM_153377,NM_001136051 LRIG3,LRIG3 EXON Missense_I401V,Missense_I341V exm1018207 12 59279683 [T/C] NM_153377,NM_001136051 LRIG3,LRIG3 EXON Missense_I392V,Missense_I332V exm1018210 12 59280632 [T/C] NM_153377,NM_001136051 LRIG3,LRIG3 EXON Missense_M378V,Missense_M318V exm1018212 12 59281583 [T/C] NM_153377,NM_001136051 LRIG3,LRIG3 EXON Missense_S360N,Missense_S300N exm1018235 12 59283829 [T/C] NM_153377,NM_001136051 LRIG3,LRIG3 EXON Missense_R203Q,Missense_R143Q exm1018246 12 59307826 [T/C] NM_153377,NM_001136051 LRIG3,LRIG3 EXON Missense_N107S,Missense_N47S exm1018248 12 59308052 [T/C] NM_153377,NM_001136051 LRIG3,LRIG3 EXON Missense_R101Q,Missense_R41Q exm1018253 12 59313208 [T/G] NM_153377,NM_001136051 LRIG3,LRIG3 EXON Silent,Missense_P19Q exm1018255 12 59313238 [G/C] NM_153377,NM_001136051 LRIG3,LRIG3 EXON Silent,Missense_S9C exm2267442 12 59557430 [A/G] exm2271738 12 59708827 [T/C] exm2271739 12 59871710 [T/C] exm1018264 12 60098664 [A/G] NM_001270622,NM_001270623,NM_004731,NR_073056,NR_073055 SLC16A7,SLC16A7,SLC16A7,SLC16A7,SLC16A7 EXON Missense_I28V,Missense_I28V,Missense_I28V,Silent,Silent exm1781511 12 60168591 [A/T] NM_001270622,NM_001270623,NM_004731,NR_073056,NR_073055 SLC16A7,SLC16A7,SLC16A7,SLC16A7,SLC16A7 EXON Missense_F172Y,Missense_F172Y,Missense_F172Y,Silent,Silent exm1018286 12 60168678 [A/G] NM_001270622,NM_001270623,NM_004731,NR_073056,NR_073055 SLC16A7,SLC16A7,SLC16A7,SLC16A7,SLC16A7 EXON Missense_N201S,Missense_N201S,Missense_N201S,Silent,Silent exm1018290 12 60168732 [T/G] NM_001270622,NM_001270623,NM_004731,NR_073056,NR_073055 SLC16A7,SLC16A7,SLC16A7,SLC16A7,SLC16A7 EXON Missense_S219I,Missense_S219I,Missense_S219I,Silent,Silent exm1018301 12 60168950 [A/G] NM_001270622,NM_001270623,NM_004731,NR_073056,NR_073055 SLC16A7,SLC16A7,SLC16A7,SLC16A7,SLC16A7 EXON Missense_V292I,Missense_V292I,Missense_V292I,Silent,Silent exm1018307 12 60169112 [T/G] NM_001270622,NM_001270623,NM_004731,NR_073056,NR_073055 SLC16A7,SLC16A7,SLC16A7,SLC16A7,SLC16A7 EXON Missense_F346V,Missense_F346V,Missense_F346V,Silent,Silent exm1018311 12 60169242 [A/G] NM_001270622,NM_001270623,NM_004731,NR_073056,NR_073055 SLC16A7,SLC16A7,SLC16A7,SLC16A7,SLC16A7 EXON Missense_G389D,Missense_G389D,Missense_G389D,Silent,Silent exm1018316 12 60173356 [A/T] NM_001270622,NM_001270623,NM_004731,NR_073056,NR_073055 SLC16A7,SLC16A7,SLC16A7,SLC16A7,SLC16A7 EXON Missense_T445S,Missense_T445S,Missense_T445S,Silent,Silent exm1018317 12 60173363 [T/A] NM_001270622,NM_001270623,NM_004731,NR_073056,NR_073055 SLC16A7,SLC16A7,SLC16A7,SLC16A7,SLC16A7 EXON Missense_E447V,Missense_E447V,Missense_E447V,Silent,Silent exm1018320 12 60173454 [G/C] NM_001270622,NM_001270623,NM_004731,NR_073056,NR_073055 SLC16A7,SLC16A7,SLC16A7,SLC16A7,SLC16A7 EXON Missense_N477K,Missense_N477K,Missense_N477K,Silent,Silent exm2264471 12 60493222 [A/C] exm2260096 12 61227112 [T/C] exm2264472 12 61403454 [A/C] exm2260097 12 61924685 [A/C] exm1018322 12 62104191 [T/G] NM_178539 FAM19A2 EXON Missense_H131P exm2267356 12 62144873 [A/G] NM_178539 FAM19A2 Silent exm1018330 12 62147452 [T/C] NM_178539 FAM19A2 EXON Missense_D112G exm1018341 12 62148790 [A/G] NM_178539 FAM19A2 EXON Missense_T41M exm2251118 12 62381413 [T/C] NM_178539 FAM19A2 Silent exm1018360 12 62749194 [C/G] NM_006313,NM_001252078 USP15,USP15 EXON Missense_Q256E,Missense_Q285E exm1018369 12 62777920 [T/C] NM_006313,NM_001252078 USP15,USP15 EXON Missense_I408T,Missense_I437T exm1018384 12 62784700 [T/G] NM_006313,NM_001252078 USP15,USP15 EXON Missense_C605F,Missense_C634F exm1018385 12 62784705 [G/C] NM_006313,NM_001252078 USP15,USP15 EXON Missense_D607H,Missense_D636H exm1018403 12 62798016 [T/G] NM_006313,NM_001252078 USP15,USP15 EXON Missense_F907C,Missense_F936C exm1018413 12 62861043 [A/G] NM_015026 MON2 EXON Missense_S19N exm1018418 12 62877989 [T/G] NM_015026 MON2 EXON Missense_A51S exm1018434 12 62895478 [A/G] NM_015026 MON2 EXON Synonymous_Q263Q exm1018443 12 62918965 [T/C] NM_015026 MON2 EXON Missense_P404L exm1018445 12 62919735 [A/G] NM_015026 MON2 EXON Missense_N418S exm1018447 12 62919800 [A/G] NM_015026 MON2 EXON Missense_T440A exm1018460 12 62926409 [A/G] NM_015026 MON2 EXON Missense_Q531R exm1018461 12 62926424 [T/C] NM_015026 MON2 EXON Missense_T536I exm1018465 12 62928633 [A/G] NM_015026 MON2 EXON Missense_A548T exm1018473 12 62929382 [T/C] NM_015026 MON2 EXON Missense_V598A exm1018476 12 62929451 [T/C] NM_015026 MON2 EXON Missense_V621A exm1018501 12 62938685 [A/G] NM_015026 MON2 EXON Missense_Q825R exm1018502 12 62938729 [A/G] NM_015026 MON2 EXON Missense_T840A exm1018521 12 62946739 [A/C] NM_015026 MON2 EXON Missense_K999Q exm1018523 12 62946748 [A/G] NM_015026 MON2 EXON Missense_E1002K exm1018530 12 62949802 [A/G] NM_015026 MON2 EXON Missense_R1080Q exm1018533 12 62949835 [T/C] NM_015026 MON2 EXON Missense_I1091T exm1018541 12 62954457 [T/C] NM_015026 MON2 EXON Missense_I1199T exm1018543 12 62954505 [T/C] NM_015026 MON2 EXON Missense_I1215T exm1018555 12 62959137 [A/G] NM_015026 MON2 EXON Missense_I1385V exm1018558 12 62959811 [A/G] NM_015026 MON2 EXON Synonymous_P1398P exm1018587 12 62979252 [A/C] NM_015026 MON2 EXON Missense_E1626D exm1018601 12 62996793 [T/G] NM_175895 C12orf61 EXON Missense_P109H exm-rs7302017 12 63004583 [A/G] exm2251119 12 63026358 [T/C] exm1018632 12 63083514 [T/C] NM_020700 PPM1H EXON Missense_I404V exm1018636 12 63083583 [A/G] NM_020700 PPM1H EXON Missense_R381W exm1018638 12 63113958 [T/C] NM_020700 PPM1H EXON Missense_T356A exm2267444 12 63121060 [A/G] NM_020700 PPM1H Silent exm1018641 12 63131311 [A/C] NM_020700 PPM1H EXON Nonsense_E309X exm1018644 12 63182102 [T/C] NM_020700 PPM1H EXON Missense_R258Q exm1018656 12 63195787 [T/G] NM_020700 PPM1H EXON Missense_P189T exm1018658 12 63195840 [G/C] NM_020700 PPM1H EXON Missense_T171R exm2251121 12 63443521 [T/C] exm1018685 12 63541203 [G/C] NM_000706 AVPR1A EXON Missense_T398R exm1782057 12 63541266 [A/T] NM_000706 AVPR1A EXON Missense_D377V exm1782058 12 63541279 [T/A] NM_000706 AVPR1A EXON Missense_F373I exm1018691 12 63541427 [T/G] NM_000706 AVPR1A Silent exm1018694 12 63543693 [T/G] NM_000706 AVPR1A EXON Missense_F308L exm1018698 12 63543772 [A/G] NM_000706 AVPR1A EXON Missense_I282T exm1018699 12 63543807 [G/C] NM_000706 AVPR1A EXON Missense_F270L exm1018721 12 63544273 [T/C] NM_000706 AVPR1A EXON Missense_Y115C exm1018724 12 63544388 [A/G] NM_000706 AVPR1A EXON Missense_H77Y exm1018733 12 63544601 [T/C] NM_000706 AVPR1A EXON Missense_G6S exm2271743 12 63789836 [T/G] exm1018735 12 63954300 [T/C] NM_173812 DPY19L2 EXON Missense_V757I exm1018737 12 63954320 [T/C] NM_173812 DPY19L2 EXON Missense_S750N exm2220977 12 64055258 [T/G] NM_173812 DPY19L2 EXON Missense_L152I exm1018815 12 64061882 [A/C] NM_173812 DPY19L2 EXON Nonsense_E98X exm1018816 12 64061925 [A/C] NM_173812 DPY19L2 EXON Missense_Q83H exm1018824 12 64062023 [A/C] NM_173812 DPY19L2 EXON Missense_S51A exm1018827 12 64062052 [A/G] NM_173812 DPY19L2 EXON Missense_A41V exm1018832 12 64062146 [A/G] NM_173812 DPY19L2 EXON Missense_R10W exm1018834 12 64173757 [A/G] NM_014254 TMEM5 EXON Missense_K6R exm1018836 12 64173807 [A/G] NM_014254 TMEM5 EXON Missense_A23T exm1018845 12 64174866 [G/C] NM_014254 TMEM5 EXON Missense_H79Q exm1018849 12 64174904 [T/C] NM_014254 TMEM5 EXON Missense_T92M exm1018858 12 64195911 [A/G] NM_014254 TMEM5 EXON Missense_V157I exm1018873 12 64202556 [A/G] NM_014254 TMEM5 EXON Missense_Y339C exm1018876 12 64202631 [A/C] NM_014254 TMEM5 EXON Missense_N364T exm1782203 12 64202649 [A/G] NM_014254 TMEM5 EXON Missense_G370D exm1018878 12 64202766 [A/G] NM_014254 TMEM5 EXON Missense_E409G exm1018891 12 64377913 [T/A] NM_020762 SRGAP1 EXON Missense_Q85L exm2267357 12 64434014 [A/G] NM_020762 SRGAP1 Silent exm1018908 12 64436711 [T/C] NM_020762 SRGAP1 EXON Missense_R211W exm1018911 12 64437273 [A/G] NM_020762 SRGAP1 EXON Missense_R240Q exm2220980 12 64456698 [T/G] NM_020762 SRGAP1 EXON Missense_C268F exm1782303 12 64456715 [T/C] NM_020762 SRGAP1 EXON Missense_H274Y exm2220981 12 64456766 [T/C] NM_020762 SRGAP1 EXON Missense_L291F exm1018932 12 64485153 [A/G] NM_020762 SRGAP1 EXON Missense_V512I exm1018941 12 64491047 [A/G] NM_020762 SRGAP1 EXON Missense_S569G exm1018944 12 64502747 [T/C] NM_020762 SRGAP1 EXON Missense_R617C exm1018945 12 64502748 [A/G] NM_020762 SRGAP1 EXON Missense_R617H exm1018946 12 64502814 [A/G] NM_020762 SRGAP1 EXON Missense_N639S exm2220983 12 64521453 [C/G] NM_020762 SRGAP1 EXON Missense_S830C exm1018968 12 64521645 [T/C] NM_020762 SRGAP1 EXON Nonsense_R849X exm1018976 12 64521724 [A/G] NM_020762 SRGAP1 EXON Missense_H875R exm1018982 12 64521834 [A/G] NM_020762 SRGAP1 EXON Missense_R912G exm1018988 12 64521937 [A/G] NM_020762 SRGAP1 EXON Missense_G946D exm1018990 12 64521950 [A/C] NM_020762 SRGAP1 EXON Missense_H950Q exm1019012 12 64587633 [A/C] NM_152440 C12orf66 EXON Missense_A443S exm1019014 12 64587666 [T/C] NM_152440 C12orf66 EXON Missense_N432D exm1782380 12 64587849 [A/G] NM_152440 C12orf66 EXON Missense_R371C exm1019035 12 64609562 [T/C] NM_152440 C12orf66 EXON Missense_M139I exm1019037 12 64609627 [T/C] NM_152440 C12orf66 EXON Missense_V118M exm1019050 12 64660970 [A/G] NM_001170633,NM_001099676 C12orf56,C12orf56 EXON Missense_V621A,Missense_V461A exm1019053 12 64664370 [T/C] NM_001170633,NM_001099676 C12orf56,C12orf56 EXON Missense_R570Q,Missense_R410Q exm1019055 12 64664383 [T/C] NM_001170633,NM_001099676 C12orf56,C12orf56 EXON Missense_K566E,Missense_K406E exm1019056 12 64664420 [T/G] NM_001170633,NM_001099676 C12orf56,C12orf56 EXON Nonsense_C553X,Nonsense_C393X exm1019059 12 64668704 [A/C] NM_001170633,NM_001099676 C12orf56,C12orf56 EXON Missense_F521V,Missense_F361V exm1019061 12 64668746 [T/C] NM_001170633,NM_001099676 C12orf56,C12orf56 EXON Missense_G507R,Missense_G347R exm1019075 12 64697460 [T/G] NM_001170633,NM_001099676 C12orf56,C12orf56 EXON Missense_K356N,Missense_K196N exm1019082 12 64712444 [A/T] NM_001170633,NM_001099676 C12orf56,C12orf56 EXON Nonsense_K269X,Silent exm1782424 12 64746701 [T/G] NM_001170633,NM_001099676 C12orf56,C12orf56 EXON Missense_H130N,Missense_H130N exm1019095 12 64746764 [T/A] NM_001170633,NM_001099676 C12orf56,C12orf56 EXON Missense_S109T,Missense_S109T exm1019096 12 64746772 [A/G] NM_001170633,NM_001099676 C12orf56,C12orf56 EXON Missense_I106T,Missense_I106T exm1019097 12 64746778 [T/C] NM_001170633,NM_001099676 C12orf56,C12orf56 EXON Missense_R104H,Missense_R104H exm1019103 12 64746833 [T/C] NM_001170633,NM_001099676 C12orf56,C12orf56 EXON Missense_D86N,Missense_D86N exm1019128 12 64813857 [A/G] NM_007235 XPOT EXON Missense_R166H exm1019165 12 64819229 [T/C] NM_007235 XPOT EXON Missense_C522R exm1019182 12 64824036 [A/G] NM_007235 XPOT EXON Missense_D649N exm1019186 12 64825358 [A/C] NM_007235 XPOT EXON Missense_Q673K exm1019201 12 64828319 [A/G] NM_007235 XPOT EXON Missense_V829I exm2267446 12 64850050 [A/G] NM_013254 TBK1 Silent exm1019240 12 64873902 [A/G] NM_013254 TBK1 EXON Missense_R271Q exm1019242 12 64875680 [A/G] NM_013254 TBK1 EXON Missense_K291E exm1019245 12 64875773 [T/C] NM_013254 TBK1 EXON Missense_H322Y exm1019247 12 64875801 [T/C] NM_013254 TBK1 EXON Missense_T331I exm1019254 12 64878241 [A/G] NM_013254 TBK1 EXON Missense_R384Q exm1019262 12 64882317 [T/C] NM_013254 TBK1 EXON Missense_V464A exm1019265 12 64889263 [A/C] NM_013254 TBK1 EXON Missense_L508I exm1782503 12 64889285 [T/C] NM_013254 TBK1 EXON Missense_I515T exm1019268 12 64889344 [A/G] NM_013254 TBK1 EXON Missense_A535T exm1019278 12 64891037 [C/G] NM_013254 TBK1 EXON Missense_E653Q exm1782517 12 64895141 [T/C] NM_013254 TBK1 EXON Missense_R724C exm2251127 12 64976049 [A/C] exm1019303 12 65082068 [A/G] NR_040718,NM_178169 RASSF3,RASSF3 EXON Silent,Missense_N98D exm1019304 12 65082096 [A/G] NR_040718,NM_178169 RASSF3,RASSF3 EXON Silent,Missense_N107S exm1019314 12 65088583 [A/G] NR_040718,NM_178169 RASSF3,RASSF3 EXON Silent,Missense_R203H exm1019318 12 65088669 [T/C] NR_040718,NM_178169 RASSF3,RASSF3 EXON Silent,Missense_R232C exm1019319 12 65088670 [A/G] NR_040718,NM_178169 RASSF3,RASSF3 EXON Silent,Missense_R232H exm1019330 12 65110582 [T/C] NM_002076 GNS EXON Missense_R533H exm1019331 12 65110586 [G/C] NM_002076 GNS EXON Missense_P532A exm1019334 12 65113929 [C/G] NM_002076 GNS EXON Missense_P485A exm1019337 12 65115420 [T/C] NM_002076 GNS EXON Missense_M458I exm1019361 12 65138636 [A/G] NM_002076 GNS EXON Missense_R193W exm1019383 12 65224220 [T/C] NM_015279 TBC1D30 EXON Missense_R116C exm1019385 12 65230319 [A/C] NM_015279 TBC1D30 EXON Missense_N215T exm-rs939876 12 65252118 [A/G] NM_015279 TBC1D30 Silent exm2260102 12 65264090 [T/C] NM_015279 TBC1D30 Silent exm1019386 12 65269030 [T/C] NM_015279 TBC1D30 EXON Missense_P583L exm1019387 12 65269047 [A/G] NM_015279 TBC1D30 EXON Missense_V589I exm2271744 12 65393186 [T/C] exm1019389 12 65445133 [A/C] NM_007191 WIF1 EXON Missense_W379L exm1019394 12 65445188 [T/G] NM_007191 WIF1 EXON Missense_P361T exm1019423 12 65471562 [T/C] NM_007191 WIF1 EXON Missense_V121I exm1019440 12 65563471 [T/C] NM_001167614,NM_014319 LEMD3,LEMD3 EXON Missense_T32M,Missense_T32M exm2251130 12 65563712 [T/C] NM_001167614,NM_014319 LEMD3,LEMD3 EXON Synonymous_A112A,Synonymous_A112A exm1019464 12 65564238 [C/G] NM_001167614,NM_014319 LEMD3,LEMD3 EXON Missense_R288G,Missense_R288G exm1019468 12 65564283 [T/G] NM_001167614,NM_014319 LEMD3,LEMD3 EXON Missense_G303C,Missense_G303C exm1019469 12 65564314 [T/G] NM_001167614,NM_014319 LEMD3,LEMD3 EXON Missense_G313V,Missense_G313V exm1019476 12 65564475 [T/C] NM_001167614,NM_014319 LEMD3,LEMD3 EXON Missense_L367F,Missense_L367F exm1019478 12 65564523 [A/G] NM_001167614,NM_014319 LEMD3,LEMD3 EXON Missense_T383A,Missense_T383A exm1019479 12 65564581 [T/C] NM_001167614,NM_014319 LEMD3,LEMD3 EXON Missense_S402F,Missense_S402F exm1019493 12 65612365 [T/C] NM_001167614,NM_014319 LEMD3,LEMD3 EXON Missense_T553M,Missense_T554M exm1782764 12 65633931 [A/G] NM_001167614,NM_014319 LEMD3,LEMD3 EXON Missense_H679R,Missense_H680R exm1019503 12 65633948 [A/G] NM_001167614,NM_014319 LEMD3,LEMD3 EXON Missense_E685K,Missense_E686K exm1019516 12 65634825 [A/G] NM_001167614,NM_014319 LEMD3,LEMD3 EXON Missense_D754N,Missense_D755N exm1019519 12 65637248 [A/T] NM_001167614,NM_014319 LEMD3,LEMD3 EXON Missense_M795L,Missense_M796L exm1019543 12 65720604 [A/G] NM_001031679,NM_198080,NM_001193460,NM_001193461 MSRB3,MSRB3,MSRB3,MSRB3 Silent,Silent,Silent,Silent exm2251131 12 65722354 [A/G] NM_001031679,NM_198080,NM_001193460,NM_001193461 MSRB3,MSRB3,MSRB3,MSRB3 EXON Synonymous_K78K,Synonymous_K85K,Synonymous_K78K,Synonymous_K78K exm-rs10506525 12 65783378 [T/C] NM_001031679,NM_198080,NM_001193460,NM_001193461 MSRB3,MSRB3,MSRB3,MSRB3 Silent,Silent,Silent,Silent exm2271745 12 65810174 [T/C] NM_001031679,NM_198080,NM_001193460,NM_001193461 MSRB3,MSRB3,MSRB3,MSRB3 Silent,Silent,Silent,Silent exm1019567 12 65857046 [A/G] NM_001031679,NM_198080,NM_001193460,NM_001193461 MSRB3,MSRB3,MSRB3,MSRB3 EXON Missense_A168T,Missense_A175T,Missense_A168T,Missense_A168T exm1019568 12 65857067 [A/G] NM_001031679,NM_198080,NM_001193460,NM_001193461 MSRB3,MSRB3,MSRB3,MSRB3 EXON Missense_A175T,Missense_A182T,Missense_A175T,Missense_A175T exm1019569 12 65857074 [T/C] NM_001031679,NM_198080,NM_001193460,NM_001193461 MSRB3,MSRB3,MSRB3,MSRB3 EXON Missense_P177L,Missense_P184L,Missense_P177L,Missense_P177L exm-rs11175883 12 66112855 [T/C] exm-rs2358944 12 66117558 [A/G] exm-rs10784496 12 66160971 [A/G] NR_026825 RPSAP52 Silent exm2271848 12 66168151 [T/G] NR_026825 RPSAP52 Silent exm-rs1531343 12 66174894 [C/G] NR_026825 RPSAP52 Silent exm1019588 12 66308896 [A/G] NM_003483,NM_003484 HMGA2,HMGA2 EXON Silent,Missense_K103E exm1019590 12 66345187 [C/G] NM_003483 HMGA2 EXON Missense_P92A exm-rs1351394 12 66351826 [T/C] NM_003483 HMGA2 Silent exm-rs1042725 12 66358347 [T/C] NM_003483 HMGA2 EXON Silent exm-rs8756 12 66359752 [A/C] NM_003483 HMGA2 EXON Silent exm-rs12424086 12 66364509 [T/C] exm-rs4026608 12 66394664 [T/C] exm1019645 12 66531745 [T/C] NM_016056 TMBIM4 EXON Missense_K238E exm1019647 12 66531758 [T/G] NM_016056 TMBIM4 EXON Missense_E233D exm1019651 12 66531877 [T/C] NM_016056 TMBIM4 EXON Missense_I194V exm1019652 12 66531937 [T/A] NM_016056 TMBIM4 EXON Missense_Y174N exm1019661 12 66546100 [A/G] NM_016056 TMBIM4 EXON Missense_I88T exm1019667 12 66547227 [A/G] NM_016056 TMBIM4 EXON Synonymous_A33A exm1019670 12 66563658 [A/G] NM_016056 TMBIM4 EXON Missense_S25F exm1019680 12 66597523 [T/C] NM_007199,NM_001142523 IRAK3,IRAK3 EXON Missense_R56C,Silent exm1019681 12 66597527 [A/G] NM_007199,NM_001142523 IRAK3,IRAK3 EXON Missense_H57R,Silent exm1019685 12 66597607 [A/G] NM_007199,NM_001142523 IRAK3,IRAK3 EXON Missense_G84S,Silent exm1019688 12 66597644 [A/G] NM_007199,NM_001142523 IRAK3,IRAK3 EXON Missense_R96H,Silent exm1019689 12 66597646 [T/C] NM_007199,NM_001142523 IRAK3,IRAK3 EXON Nonsense_R97X,Silent exm1019693 12 66603301 [T/G] NM_007199,NM_001142523 IRAK3,IRAK3 Silent,Silent exm1019698 12 66603945 [A/G] NM_007199,NM_001142523 IRAK3,IRAK3 EXON Missense_V134M,Missense_V73M exm1019700 12 66603980 [A/G] NM_007199,NM_001142523 IRAK3,IRAK3 EXON Synonymous_K145K,Synonymous_K84K exm1019702 12 66605228 [A/G] NM_007199,NM_001142523 IRAK3,IRAK3 EXON Missense_I147V,Missense_I86V exm2221018 12 66605300 [A/G] NM_007199,NM_001142523 IRAK3,IRAK3 EXON Missense_I171V,Missense_I110V exm1019709 12 66605329 [A/C] NM_007199,NM_001142523 IRAK3,IRAK3 EXON Nonsense_Y180X,Nonsense_Y119X exm1019713 12 66610970 [A/G] NM_007199,NM_001142523 IRAK3,IRAK3 EXON Missense_K203R,Missense_K142R exm1019723 12 66622068 [A/G] NM_007199,NM_001142523 IRAK3,IRAK3 EXON Missense_G269S,Missense_G208S exm1019724 12 66622071 [A/G] NM_007199,NM_001142523 IRAK3,IRAK3 EXON Missense_I270V,Missense_I209V exm1019725 12 66622105 [T/C] NM_007199,NM_001142523 IRAK3,IRAK3 EXON Missense_L281P,Missense_L220P exm2260104 12 66634658 [A/C] NM_007199,NM_001142523 IRAK3,IRAK3 Silent,Silent exm1019738 12 66638363 [A/G] NM_007199,NM_001142523 IRAK3,IRAK3 EXON Missense_N329D,Missense_N268D exm1019743 12 66638878 [T/C] NM_007199,NM_001142523 IRAK3,IRAK3 EXON Missense_R384W,Missense_R323W exm1019744 12 66638879 [A/G] NM_007199,NM_001142523 IRAK3,IRAK3 EXON Missense_R384Q,Missense_R323Q exm1019747 12 66638926 [C/G] NM_007199,NM_001142523 IRAK3,IRAK3 EXON Missense_L400V,Missense_L339V exm1019750 12 66638962 [T/C] NM_007199,NM_001142523 IRAK3,IRAK3 EXON Missense_R412W,Missense_R351W exm1019751 12 66638963 [A/G] NM_007199,NM_001142523 IRAK3,IRAK3 EXON Missense_R412Q,Missense_R351Q exm1019752 12 66638999 [A/G] NM_007199,NM_001142523 IRAK3,IRAK3 EXON Missense_R424Q,Missense_R363Q exm1019754 12 66639011 [T/C] NM_007199,NM_001142523 IRAK3,IRAK3 EXON Missense_T428M,Missense_T367M exm1019756 12 66639013 [T/C] NM_007199,NM_001142523 IRAK3,IRAK3 EXON Missense_R429W,Missense_R368W exm1019757 12 66639014 [A/G] NM_007199,NM_001142523 IRAK3,IRAK3 EXON Missense_R429Q,Missense_R368Q exm2277044 12 66641523 [T/G] NM_007199,NM_001142523 IRAK3,IRAK3 EXON Missense_D455Y,Missense_D394Y exm1019766 12 66641657 [G/C] NM_007199,NM_001142523 IRAK3,IRAK3 EXON Missense_D499E,Missense_D438E exm1019774 12 66641863 [T/C] NM_007199,NM_001142523 IRAK3,IRAK3 EXON Missense_P568L,Missense_P507L exm1019777 12 66641908 [T/C] NM_007199,NM_001142523 IRAK3,IRAK3 EXON Missense_S583F,Missense_S522F exm1019785 12 66696547 [A/G] NM_033647 HELB EXON Missense_G55D exm1019790 12 66698516 [A/G] NM_033647 HELB EXON Missense_I65V exm1019802 12 66698837 [A/G] NM_033647 HELB EXON Missense_E172K exm1019805 12 66698889 [T/C] NM_033647 HELB EXON Missense_L189S exm1019806 12 66698895 [T/C] NM_033647 HELB EXON Missense_L191P exm2251143 12 66700162 [A/G] NM_033647 HELB EXON Synonymous_P215P exm1019818 12 66700220 [T/A] NM_033647 HELB EXON Missense_S235T exm1019822 12 66700280 [T/C] NM_033647 HELB EXON Missense_L255F exm1019824 12 66703507 [T/C] NM_033647 HELB EXON Missense_L267F exm1019830 12 66703645 [A/G] NM_033647 HELB EXON Missense_V313I exm1019832 12 66703744 [T/C] NM_033647 HELB EXON Missense_Y346H exm1019838 12 66703862 [T/C] NM_033647 HELB EXON Missense_V385A exm1019841 12 66703975 [A/G] NM_033647 HELB EXON Missense_D423N exm1019847 12 66704168 [A/G] NM_033647 HELB EXON Missense_R487H exm1019849 12 66704225 [A/G] NM_033647 HELB EXON Missense_D506G exm1019854 12 66704274 [C/G] NM_033647 HELB EXON Missense_E522D exm1019856 12 66704291 [T/C] NM_033647 HELB EXON Missense_A528V exm1019858 12 66707785 [T/C] NM_033647 HELB EXON Missense_S567L exm1019860 12 66707808 [A/G] NM_033647 HELB EXON Missense_T575A exm1019865 12 66707928 [A/G] NM_033647 HELB EXON Missense_K615E exm1019867 12 66709055 [A/G] NM_033647 HELB EXON Missense_G631D exm1019870 12 66709105 [A/G] NM_033647 HELB EXON Missense_I648V exm1019872 12 66709150 [A/G] NM_033647 HELB EXON Missense_D663N exm1019877 12 66712428 [T/C] NM_033647 HELB EXON Missense_R671C exm1783218 12 66715790 [T/C] NM_033647 HELB EXON Nonsense_Q740X exm1783224 12 66717924 [G/C] NM_033647 HELB EXON Missense_A820G exm1019905 12 66718775 [A/G] NM_033647 HELB EXON Missense_V847I exm1019907 12 66718865 [T/C] NM_033647 HELB EXON Missense_R877C exm2274614 12 66724940 [A/G] NM_033647 HELB EXON Missense_E893K exm1019917 12 66725100 [A/G] NM_033647 HELB EXON Missense_R946H exm1019921 12 66725138 [A/G] NM_033647 HELB EXON Missense_G959S exm1019922 12 66725142 [T/C] NM_033647 HELB EXON Missense_A960V exm1019923 12 66725160 [T/C] NM_033647 HELB EXON Missense_P966L exm1019926 12 66725181 [G/C] NM_033647 HELB EXON Missense_G973A exm1019927 12 66725202 [T/C] NM_033647 HELB EXON Missense_T980I exm1019934 12 66725301 [T/C] NM_033647 HELB EXON Missense_F1013S exm1019936 12 66725369 [A/G] NM_033647 HELB EXON Missense_A1036T exm1019947 12 66742817 [T/A] NM_001178074,NM_021150 GRIP1,GRIP1 EXON Missense_E1056D,Missense_E1071D exm1019948 12 66742840 [T/C] NM_001178074,NM_021150 GRIP1,GRIP1 EXON Missense_G1049S,Missense_G1064S exm1019952 12 66742963 [T/C] NM_001178074,NM_021150 GRIP1,GRIP1 EXON Missense_G1008R,Missense_G1023R exm2251144 12 66742979 [A/G] NM_001178074,NM_021150 GRIP1,GRIP1 EXON Synonymous_P1002P,Synonymous_P1017P exm1019954 12 66742987 [C/G] NM_001178074,NM_021150 GRIP1,GRIP1 EXON Missense_V1000L,Missense_V1015L exm1019968 12 66765616 [T/C] NM_001178074,NM_021150 GRIP1,GRIP1 EXON Missense_R890H,Missense_R905H exm1019969 12 66765652 [T/C] NM_001178074,NM_021150 GRIP1,GRIP1 EXON Missense_R878H,Missense_R893H exm1019984 12 66773075 [T/C] NM_001178074,NM_021150 GRIP1,GRIP1 EXON Missense_R817Q,Missense_R817Q exm1019990 12 66786091 [C/G] NM_001178074,NM_021150 GRIP1,GRIP1 EXON Missense_Q769E,Missense_Q769E exm1783287 12 66786159 [A/G] NM_001178074,NM_021150 GRIP1,GRIP1 EXON Missense_T746M,Missense_T746M exm1019994 12 66786171 [A/C] NM_001178074,NM_021150 GRIP1,GRIP1 EXON Missense_M742R,Missense_M742R exm1020008 12 66800174 [T/C] NM_001178074,NM_021150 GRIP1,GRIP1 EXON Missense_A573T,Missense_A573T exm1020011 12 66814537 [T/C] NM_001178074,NM_021150 GRIP1,GRIP1 EXON Missense_V549I,Missense_V549I exm1020016 12 66826340 [T/G] NM_001178074,NM_021150 GRIP1,GRIP1 EXON Missense_I534L,Missense_I534L exm1020017 12 66826353 [A/C] NM_001178074,NM_021150 GRIP1,GRIP1 EXON Missense_N529K,Missense_N529K exm1020021 12 66838406 [T/C] NM_001178074,NM_021150 GRIP1,GRIP1 EXON Missense_I497V,Missense_I497V exm1020030 12 66849189 [A/G] NM_001178074,NM_021150 GRIP1,GRIP1 EXON Synonymous_L400L,Synonymous_L400L exm1020031 12 66849248 [A/G] NM_001178074,NM_021150 GRIP1,GRIP1 EXON Missense_T380I,Missense_T380I exm1020036 12 66856710 [T/C] NM_001178074,NM_021150 GRIP1,GRIP1 EXON Missense_D346N,Missense_D346N exm1020037 12 66856782 [T/C] NM_001178074,NM_021150 GRIP1,GRIP1 EXON Missense_A322T,Missense_A322T exm1020047 12 66859110 [A/G] NM_001178074,NM_021150 GRIP1,GRIP1 EXON Missense_C273R,Missense_C273R exm1020049 12 66859146 [T/C] NM_001178074,NM_021150 GRIP1,GRIP1 EXON Missense_A261T,Missense_A261T exm1783350 12 66909431 [A/G] NM_001178074,NM_021150 GRIP1,GRIP1 EXON Missense_A231V,Missense_A231V exm1020063 12 66932938 [T/C] NM_001178074,NM_021150 GRIP1,GRIP1 EXON Missense_R113H,Missense_R113H exm1020071 12 66935707 [T/C] NM_001178074,NM_021150 GRIP1,GRIP1 EXON Missense_V54I,Missense_V54I exm1020073 12 66990671 [T/C] NM_001178074,NM_021150 GRIP1,GRIP1 EXON Missense_K31R,Missense_K31R exm2271746 12 67209123 [T/C] exm2271747 12 67365344 [T/C] exm-rs1082714 12 67628831 [T/C] exm1020082 12 67675701 [A/C] NM_018448 CAND1 EXON Missense_T27K exm1020111 12 67696225 [A/G] NM_018448 CAND1 EXON Missense_V375I exm1783559 12 67699019 [T/C] NM_018448 CAND1 EXON Missense_V524A exm1783563 12 67699245 [A/C] NM_018448 CAND1 EXON Missense_N599K exm1020129 12 67699256 [A/G] NM_018448 CAND1 EXON Missense_N603S exm1020133 12 67699406 [G/C] NM_018448 CAND1 EXON Missense_P653R exm1020136 12 67699589 [A/G] NM_018448 CAND1 EXON Missense_S714N exm2274616 12 67699856 [T/C] NM_018448 CAND1 EXON Missense_V803A exm2251147 12 67703772 [A/G] NM_018448 CAND1 EXON Synonymous_S1039S exm1020169 12 67706476 [T/C] NM_018448 CAND1 EXON Missense_P1187S exm1020180 12 68050928 [A/G] NM_006482,NM_003583 DYRK2,DYRK2 EXON Missense_G81S,Missense_G8S exm1020192 12 68051227 [T/A] NM_006482,NM_003583 DYRK2,DYRK2 EXON Missense_E180D,Missense_E107D exm1020199 12 68051420 [A/C] NM_006482,NM_003583 DYRK2,DYRK2 EXON Missense_H245N,Missense_H172N exm1020206 12 68051571 [A/G] NM_006482,NM_003583 DYRK2,DYRK2 EXON Missense_N295S,Missense_N222S exm1020229 12 68052183 [T/C] NM_006482,NM_003583 DYRK2,DYRK2 EXON Missense_A499V,Missense_A426V exm-rs10492199 12 68487099 [T/C] exm-rs7134599 12 68500075 [A/G] exm-rs1558744 12 68504592 [A/G] exm1020288 12 68619022 [A/C] NM_018402 IL26 EXON Missense_M90I exm1020289 12 68619047 [T/C] NM_018402 IL26 EXON Missense_Q82R exm1020306 12 68642647 [T/C] NM_020525 IL22 EXON Missense_S158G exm1020316 12 68646425 [T/C] NM_020525 IL22 EXON Missense_M85I exm1020321 12 68647096 [A/G] NM_020525 IL22 EXON Missense_S45P exm1020322 12 68647141 [T/C] NM_020525 IL22 EXON Missense_G30R exm2251149 12 68658034 [A/G] exm1020328 12 68689075 [A/G] NM_001205028,NM_017440 MDM1,MDM1 EXON Nonsense_R667X,Nonsense_R702X exm1020329 12 68689095 [T/C] NM_001205028,NM_017440 MDM1,MDM1 EXON Missense_R660Q,Missense_R695Q exm1020330 12 68689096 [A/G] NM_001205028,NM_017440 MDM1,MDM1 EXON Missense_R660W,Missense_R695W exm1020333 12 68689113 [A/G] NM_001205028,NM_017440 MDM1,MDM1 EXON Missense_S654F,Missense_S689F exm1783728 12 68690747 [A/G] NM_001205028,NM_017440 MDM1,MDM1 EXON Missense_M628T,Missense_M663T exm1020336 12 68690754 [T/C] NM_001205028,NM_017440 MDM1,MDM1 EXON Missense_A626T,Missense_A661T exm1020342 12 68696484 [A/G] NM_001205028,NM_017440 MDM1,MDM1 EXON Missense_P595S,Missense_P630S exm2251150 12 68696569 [A/C] NM_001205028,NM_017440 MDM1,MDM1 EXON Synonymous_S566S,Synonymous_S601S exm1020351 12 68707287 [A/G] NM_001205028,NM_017440 MDM1,MDM1 EXON Missense_P517L,Missense_P552L exm1020362 12 68708761 [T/C] NM_001205028,NM_017440 MDM1,MDM1 EXON Missense_R454H,Missense_R489H exm1783743 12 68708787 [T/C] NM_001205028,NM_017440 MDM1,MDM1 EXON Missense_M445I,Missense_M480I exm1020365 12 68708804 [T/C] NM_001205028,NM_017440 MDM1,MDM1 EXON Missense_G440S,Missense_G475S exm2251151 12 68708976 [G/C] NM_001205028,NM_017440 MDM1,MDM1 EXON Synonymous_V382V,Synonymous_V417V exm1020377 12 68709892 [T/C] NM_001205028,NM_017440 MDM1,MDM1 EXON Missense_V348I,Missense_V383I exm1020387 12 68715213 [T/C] NM_001205028,NM_017440 MDM1,MDM1 EXON Missense_E262K,Missense_E307K exm1020390 12 68715308 [A/G] NM_001205028,NM_017440 MDM1,MDM1 EXON Missense_L256P,Missense_L301P exm1020397 12 68715389 [T/C] NM_001205028,NM_017440 MDM1,MDM1 EXON Missense_R229H,Missense_R274H exm1020398 12 68715390 [A/G] NM_001205028,NM_017440 MDM1,MDM1 EXON Missense_R229C,Missense_R274C exm1020399 12 68715393 [T/C] NM_001205028,NM_017440 MDM1,MDM1 EXON Missense_D228N,Missense_D273N exm1020406 12 68719244 [G/C] NM_001205028,NM_017440,NM_020128,NM_001205029 MDM1,MDM1,MDM1,MDM1 EXON Silent,Missense_A204P,Silent,Silent exm1020408 12 68719304 [T/C] NM_001205028,NM_017440,NM_020128,NM_001205029 MDM1,MDM1,MDM1,MDM1 EXON Silent,Missense_N184D,Silent,Silent exm1020415 12 68720487 [T/C] NM_001205028,NM_017440,NM_020128,NM_001205029 MDM1,MDM1,MDM1,MDM1 EXON Missense_V150M,Missense_V150M,Missense_V150M,Silent exm1020418 12 68720534 [A/G] NM_001205028,NM_017440,NM_020128,NM_001205029 MDM1,MDM1,MDM1,MDM1 EXON Missense_V134A,Missense_V134A,Missense_V134A,Silent exm1020421 12 68720627 [A/G] NM_001205028,NM_017440,NM_020128,NM_001205029 MDM1,MDM1,MDM1,MDM1 EXON Missense_T103I,Missense_T103I,Missense_T103I,Silent exm1020422 12 68720635 [G/C] NM_001205028,NM_017440,NM_020128,NM_001205029 MDM1,MDM1,MDM1,MDM1 EXON Missense_K100N,Missense_K100N,Missense_K100N,Silent exm2251152 12 68764325 [T/C] exm2264495 12 68853791 [A/C] exm-rs12313946 12 68961584 [A/C] exm1020477 12 69082824 [A/G] NM_020401 NUP107 EXON Missense_R31G exm1020479 12 69083373 [A/G] NM_020401 NUP107 EXON Missense_R54Q exm1020488 12 69085797 [A/G] NM_020401 NUP107 EXON Missense_R118H exm1020491 12 69085868 [T/C] NM_020401 NUP107 EXON Missense_R142C exm1020496 12 69090646 [T/C] NM_020401 NUP107 EXON Missense_S166P exm1020505 12 69094519 [A/G] NM_020401 NUP107 EXON Missense_S189N exm-IND12-67380833 12 69094567 [D/I] NM_020401 NUP107 EXON exm2251155 12 69094607 [A/G] NM_020401 NUP107 EXON Synonymous_T218T exm1020514 12 69103039 [A/T] NM_020401 NUP107 EXON Missense_T251S exm1783883 12 69109419 [T/C] NM_020401 NUP107 EXON Missense_P328S exm1020529 12 69113122 [T/C] NM_020401 NUP107 EXON Missense_A362V exm1020532 12 69113390 [T/C] NM_020401 NUP107 EXON Missense_Y403H exm1020563 12 69125443 [A/C] NM_020401 NUP107 EXON Missense_N648H exm1020569 12 69127244 [A/T] NM_020401 NUP107 EXON Missense_H705L exm1020583 12 69135744 [A/G] NM_020401 NUP107 EXON Missense_R885H exm1020589 12 69140173 [T/G] NM_018656 SLC35E3 EXON Missense_D6Y exm1020600 12 69140339 [C/G] NM_018656 SLC35E3 EXON Missense_C61S exm1783925 12 69140381 [T/C] NM_018656 SLC35E3 EXON Missense_S75F exm1020603 12 69140450 [A/C] NM_018656 SLC35E3 EXON Missense_N98T exm2251157 12 69140505 [T/C] NM_018656 SLC35E3 EXON Synonymous_A116A exm1020613 12 69145876 [T/C] NM_018656 SLC35E3 EXON Missense_P193L exm1020614 12 69145890 [A/G] NM_018656 SLC35E3 EXON Missense_M198V exm1020617 12 69145971 [G/C] NM_018656 SLC35E3 Silent exm1020620 12 69153020 [A/G] NM_018656 SLC35E3 Silent exm1020634 12 69203017 [T/C] NM_002392 MDM2 EXON Missense_P15L exm1020644 12 69222563 [A/G] NM_002392 MDM2 EXON Missense_D179G exm1020661 12 69233096 [T/C] NM_002392 MDM2 EXON Missense_L321F exm2221045 12 69233256 [A/G] NM_002392 MDM2 EXON Missense_N374S exm1020671 12 69233376 [T/A] NM_002392 MDM2 EXON Missense_Q414L exm1020672 12 69233377 [A/C] NM_002392 MDM2 EXON Missense_Q414H exm1020681 12 69250263 [C/G] NM_001874,NM_198320,NM_001005502 CPM,CPM,CPM EXON Missense_S429T,Missense_S429T,Missense_S429T exm1020698 12 69263103 [A/G] NM_001874,NM_198320,NM_001005502 CPM,CPM,CPM Silent,Silent,Silent exm2221047 12 69263245 [A/G] NM_001874,NM_198320,NM_001005502 CPM,CPM,CPM EXON Missense_T216M,Missense_T216M,Missense_T216M exm1020706 12 69263263 [A/G] NM_001874,NM_198320,NM_001005502 CPM,CPM,CPM EXON Missense_L210S,Missense_L210S,Missense_L210S exm1020714 12 69264171 [T/C] NM_001874,NM_198320,NM_001005502 CPM,CPM,CPM EXON Missense_Y147C,Missense_Y147C,Missense_Y147C exm1020718 12 69265598 [T/C] NM_001874,NM_198320,NM_001005502 CPM,CPM,CPM EXON Missense_V133I,Missense_V133I,Missense_V133I exm1020721 12 69265642 [T/C] NM_001874,NM_198320,NM_001005502 CPM,CPM,CPM EXON Missense_R118Q,Missense_R118Q,Missense_R118Q exm1020729 12 69326457 [T/C] NM_001874,NM_198320,NM_001005502 CPM,CPM,CPM Silent,Silent,Silent exm1020733 12 69326547 [T/C] NM_001874,NM_198320,NM_001005502 CPM,CPM,CPM EXON Missense_R24H,Missense_R24H,Missense_R24H exm-rs9943849 12 69370756 [T/C] exm2271749 12 69424967 [T/C] exm2271750 12 69566855 [T/G] exm-rs317689 12 69727190 [A/G] exm1020799 12 69742198 [G/C] NM_000239 LYZ EXON Missense_L4V exm1020808 12 69743966 [A/T] NM_000239 LYZ EXON Missense_Y72F exm1020810 12 69744014 [A/C] NM_000239 LYZ EXON Missense_T88N exm1020815 12 69746033 [G/C] NM_000239 LYZ EXON Missense_A112G exm-rs10748128 12 69827658 [T/G] exm-rs11177669 12 69828681 [A/G] exm2271850 12 69842643 [T/C] exm1020847 12 69964199 [A/G] NM_006654,NM_001042555 FRS2,FRS2 EXON Missense_R52H,Missense_R52H exm1020856 12 69966039 [A/C] NM_006654,NM_001042555 FRS2,FRS2 EXON Missense_P185H,Missense_P185H exm1020861 12 69967812 [A/G] NM_006654,NM_001042555 FRS2,FRS2 EXON Missense_V202M,Missense_V202M exm2221067 12 69967825 [A/G] NM_006654,NM_001042555 FRS2,FRS2 EXON Missense_R206Q,Missense_R206Q exm1020866 12 69967914 [A/G] NM_006654,NM_001042555 FRS2,FRS2 EXON Missense_E236K,Missense_E236K exm1020879 12 69968454 [A/G] NM_006654,NM_001042555 FRS2,FRS2 EXON Missense_T416A,Missense_T416A exm1020883 12 69968636 [T/C] NM_006654,NM_001042555 FRS2,FRS2 EXON Synonymous_I476I,Synonymous_I476I exm2251162 12 69968636 [T/C] NM_006654,NM_001042555 FRS2,FRS2 EXON Synonymous_I476I,Synonymous_I476I exm2273497 12 69968753 [T/G] NM_006654,NM_001042555 FRS2,FRS2 EXON Silent,Silent exm1020916 12 69983285 [A/G] NM_006431,NM_001198842 CCT2,CCT2 EXON Missense_R156H,Missense_R109H exm1020921 12 69983450 [A/G] NM_006431,NM_001198842 CCT2,CCT2 EXON Missense_D211G,Missense_D164G exm1020932 12 69991508 [T/C] NM_006431,NM_001198842 CCT2,CCT2 EXON Missense_A398V,Missense_A351V exm1020936 12 69992139 [A/G] NM_006431,NM_001198842 CCT2,CCT2 EXON Missense_S458N,Missense_S411N exm1020952 12 70003859 [A/G] NM_201550 LRRC10 EXON Missense_R254C exm1020960 12 70003922 [A/C] NM_201550 LRRC10 EXON Missense_G233C exm1020968 12 70004035 [A/G] NM_201550 LRRC10 EXON Missense_I195T exm1020970 12 70004048 [A/T] NM_201550 LRRC10 EXON Missense_F191I exm1020974 12 70004098 [A/G] NM_201550 LRRC10 EXON Missense_L174P exm2221070 12 70004128 [T/C] NM_201550 LRRC10 EXON Missense_R164Q exm1784251 12 70004449 [A/G] NM_201550 LRRC10 EXON Missense_L57P exm1020995 12 70004470 [A/G] NM_201550 LRRC10 EXON Missense_S50F exm1784257 12 70048824 [T/A] NM_032735,NM_152439 BEST3,BEST3 EXON Missense_S624T,Missense_S411T exm1021005 12 70048829 [T/C] NM_032735,NM_152439 BEST3,BEST3 EXON Missense_E622G,Missense_E409G exm1021008 12 70048924 [T/C] NM_032735,NM_152439 BEST3,BEST3 EXON Nonsense_W590X,Nonsense_W377X exm1021022 12 70049193 [A/G] NM_032735,NM_152439 BEST3,BEST3 EXON Missense_P501S,Missense_P288S exm1021024 12 70049250 [A/G] NM_032735,NM_152439 BEST3,BEST3 EXON Nonsense_Q482X,Nonsense_Q269X exm1021033 12 70049418 [A/G] NM_032735,NM_152439 BEST3,BEST3 EXON Nonsense_R426X,Nonsense_R213X exm2251163 12 70049466 [T/G] NM_032735,NM_152439 BEST3,BEST3 EXON Synonymous_R410R,Synonymous_R197R exm1021038 12 70049556 [A/C] NM_032735,NM_152439 BEST3,BEST3 EXON Missense_W380G,Missense_W167G exm1021042 12 70065214 [T/G] NM_032735,NM_152439 BEST3,BEST3 EXON Missense_Q365P,Missense_Q152P exm1021046 12 70070770 [T/C] NM_032735,NM_152439 BEST3,BEST3 EXON Missense_A265T,Silent exm1021060 12 70072522 [A/C] NM_032735,NM_152439 BEST3,BEST3 EXON Missense_M211I,Missense_M49I exm1021061 12 70072569 [A/G] NM_032735,NM_152439 BEST3,BEST3 EXON Missense_R196W,Missense_R34W exm1021069 12 70087477 [T/G] NM_032735 BEST3 EXON Missense_T153K exm1021071 12 70087510 [A/G] NM_032735 BEST3 EXON Missense_S142L exm1021075 12 70087583 [T/C] NM_032735 BEST3 EXON Missense_D118N exm1021079 12 70087655 [A/T] NM_032735 BEST3 EXON Missense_W94R exm1021085 12 70087663 [T/C] NM_032735 BEST3 EXON Missense_N91S exm1021090 12 70091452 [A/G] NM_032735 BEST3 EXON Missense_Y43H exm1021092 12 70091493 [T/C] NM_032735 BEST3 EXON Missense_Y29C exm1021113 12 70149429 [T/C] NM_175624,NM_022456,NM_175625,NM_175623 RAB3IP,RAB3IP,RAB3IP,RAB3IP EXON Missense_S81P,Missense_S81P,Missense_S97P,Missense_S97P exm1784300 12 70150265 [A/G] NM_175624,NM_022456,NM_175625,NM_175623 RAB3IP,RAB3IP,RAB3IP,RAB3IP EXON Missense_N111S,Missense_N111S,Missense_N127S,Missense_N127S exm1021117 12 70150297 [A/G] NM_175624,NM_022456,NM_175625,NM_175623 RAB3IP,RAB3IP,RAB3IP,RAB3IP EXON Missense_A122T,Missense_A122T,Missense_A138T,Missense_A138T exm1021126 12 70188220 [A/G] NM_175624,NM_022456,NM_175625,NM_175623,NM_001024647 RAB3IP,RAB3IP,RAB3IP,RAB3IP,RAB3IP EXON Missense_A204T,Missense_A204T,Missense_A220T,Missense_A220T,Silent exm1021138 12 70189009 [A/G] NM_175624,NM_022456,NM_175625,NM_175623,NM_001024647 RAB3IP,RAB3IP,RAB3IP,RAB3IP,RAB3IP EXON Missense_G258D,Missense_G258D,Missense_G274D,Missense_G274D,Missense_G52D exm2251164 12 70287209 [A/G] exm-rs789560 12 70331827 [T/G] exm-rs7980085 12 70687630 [A/G] NM_014515,NM_001199302,NR_037615,NM_001199303 CNOT2,CNOT2,CNOT2,CNOT2 Silent,Silent,Silent,Silent exm1021177 12 70723260 [A/G] NM_014515,NM_001199302,NR_037615,NM_001199303 CNOT2,CNOT2,CNOT2,CNOT2 EXON Missense_S99N,Missense_S99N,Silent,Missense_S99N exm2264475 12 70728679 [A/C] NM_014515,NM_001199302,NR_037615,NM_001199303 CNOT2,CNOT2,CNOT2,CNOT2 Silent,Silent,Silent,Silent exm1021186 12 70729278 [A/G] NM_014515,NM_001199302,NR_037615,NM_001199303 CNOT2,CNOT2,CNOT2,CNOT2 EXON Missense_N237S,Missense_N237S,Silent,Missense_N237S exm1021226 12 70794092 [T/C] NM_014505 KCNMB4 EXON Missense_T147I exm1021230 12 70824374 [A/G] NM_014505 KCNMB4 EXON Missense_I192V exm1021237 12 70925853 [T/C] NM_001206971,NM_002837,NM_001206972,NM_001109754 PTPRB,PTPRB,PTPRB,PTPRB EXON Missense_D1848N,Missense_D1938N,Missense_D1848N,Missense_D2156N exm1021241 12 70925909 [T/C] NM_001206971,NM_002837,NM_001206972,NM_001109754 PTPRB,PTPRB,PTPRB,PTPRB EXON Missense_R1829Q,Missense_R1919Q,Missense_R1829Q,Missense_R2137Q exm1021243 12 70928356 [T/C] NM_001206971,NM_002837,NM_001206972,NM_001109754 PTPRB,PTPRB,PTPRB,PTPRB EXON Missense_T1786A,Missense_T1876A,Missense_T1786A,Missense_T2094A exm1021248 12 70928654 [T/C] NM_001206971,NM_002837,NM_001206972,NM_001109754 PTPRB,PTPRB,PTPRB,PTPRB EXON Missense_V1747I,Missense_V1837I,Missense_V1747I,Missense_V2055I exm1021255 12 70929806 [T/C] NM_001206971,NM_002837,NM_001206972,NM_001109754 PTPRB,PTPRB,PTPRB,PTPRB EXON Missense_R1719Q,Missense_R1809Q,Missense_R1719Q,Missense_R2027Q exm1021257 12 70929932 [T/C] NM_001206971,NM_002837,NM_001206972,NM_001109754 PTPRB,PTPRB,PTPRB,PTPRB EXON Missense_N1677S,Missense_N1767S,Missense_N1677S,Missense_N1985S exm1021259 12 70931935 [A/C] NM_001206971,NM_002837,NM_001206972,NM_001109754 PTPRB,PTPRB,PTPRB,PTPRB EXON Synonymous_P1674P,Synonymous_P1764P,Synonymous_P1674P,Synonymous_P1982P exm1021260 12 70932002 [A/G] NM_001206971,NM_002837,NM_001206972,NM_001109754 PTPRB,PTPRB,PTPRB,PTPRB EXON Missense_T1652M,Missense_T1742M,Missense_T1652M,Missense_T1960M exm1784555 12 70932745 [A/G] NM_001206971,NM_002837,NM_001206972,NM_001109754 PTPRB,PTPRB,PTPRB,PTPRB EXON Missense_P1635L,Missense_P1725L,Missense_P1635L,Missense_P1943L exm1021287 12 70949014 [A/G] NM_001206971,NM_002837,NM_001206972,NM_001109754 PTPRB,PTPRB,PTPRB,PTPRB EXON Missense_T1382I,Missense_T1472I,Missense_T1382I,Missense_T1690I exm1021291 12 70949062 [T/C] NM_001206971,NM_002837,NM_001206972,NM_001109754 PTPRB,PTPRB,PTPRB,PTPRB EXON Missense_R1366H,Missense_R1456H,Missense_R1366H,Missense_R1674H exm1021301 12 70949706 [T/C] NM_001206971,NM_002837,NM_001206972,NM_001109754 PTPRB,PTPRB,PTPRB,PTPRB EXON Missense_Q1338R,Missense_Q1428R,Missense_Q1338R,Missense_Q1646R exm1021304 12 70949800 [T/C] NM_001206971,NM_002837,NM_001206972,NM_001109754 PTPRB,PTPRB,PTPRB,PTPRB EXON Missense_V1307I,Missense_V1397I,Missense_V1307I,Missense_V1615I exm1021305 12 70949820 [T/C] NM_001206971,NM_002837,NM_001206972,NM_001109754 PTPRB,PTPRB,PTPRB,PTPRB EXON Missense_R1300Q,Missense_R1390Q,Missense_R1300Q,Missense_R1608Q exm1021320 12 70953189 [T/C] NM_001206971,NM_002837,NM_001206972,NM_001109754 PTPRB,PTPRB,PTPRB,PTPRB EXON Missense_V1242I,Missense_V1332I,Missense_V1242I,Missense_V1550I exm1021321 12 70953191 [T/C] NM_001206971,NM_002837,NM_001206972,NM_001109754 PTPRB,PTPRB,PTPRB,PTPRB EXON Missense_N1241S,Missense_N1331S,Missense_N1241S,Missense_N1549S exm1021324 12 70953285 [T/C] NM_001206971,NM_002837,NM_001206972,NM_001109754 PTPRB,PTPRB,PTPRB,PTPRB EXON Missense_R1210G,Missense_R1300G,Missense_R1210G,Missense_R1518G exm1021326 12 70953369 [T/G] NM_001206971,NM_002837,NM_001206972,NM_001109754 PTPRB,PTPRB,PTPRB,PTPRB EXON Missense_I1182L,Missense_I1272L,Missense_I1182L,Missense_I1490L exm1021334 12 70954547 [A/G] NM_001206971,NM_002837,NM_001206972,NM_001109754 PTPRB,PTPRB,PTPRB,PTPRB EXON Missense_R1138W,Missense_R1228W,Missense_R1138W,Missense_R1446W exm2221087 12 70956666 [T/C] NM_001206971,NM_002837,NM_001206972,NM_001109754 PTPRB,PTPRB,PTPRB,PTPRB EXON Missense_S1068G,Missense_S1158G,Missense_S1068G,Missense_S1376G exm1021346 12 70960370 [A/G] NM_001206971,NM_002837,NM_001206972,NM_001109754 PTPRB,PTPRB,PTPRB,PTPRB EXON Missense_T942I,Missense_T1032I,Silent,Missense_T1250I exm1021349 12 70963460 [T/C] NM_001206971,NM_002837,NM_001206972,NM_001109754 PTPRB,PTPRB,PTPRB,PTPRB EXON Missense_R902Q,Missense_R992Q,Missense_R992Q,Missense_R1210Q exm1784594 12 70963559 [A/G] NM_001206971,NM_002837,NM_001206972,NM_001109754 PTPRB,PTPRB,PTPRB,PTPRB EXON Missense_F869S,Missense_F959S,Missense_F959S,Missense_F1177S exm2221088 12 70963589 [A/G] NM_001206971,NM_002837,NM_001206972,NM_001109754 PTPRB,PTPRB,PTPRB,PTPRB EXON Missense_V859A,Missense_V949A,Missense_V949A,Missense_V1167A exm1021353 12 70963598 [T/C] NM_001206971,NM_002837,NM_001206972,NM_001109754 PTPRB,PTPRB,PTPRB,PTPRB EXON Missense_S856N,Missense_S946N,Missense_S946N,Missense_S1164N exm1021356 12 70963619 [A/G] NM_001206971,NM_002837,NM_001206972,NM_001109754 PTPRB,PTPRB,PTPRB,PTPRB EXON Missense_T849M,Missense_T939M,Missense_T939M,Missense_T1157M exm1021358 12 70963641 [A/C] NM_001206971,NM_002837,NM_001206972,NM_001109754 PTPRB,PTPRB,PTPRB,PTPRB EXON Missense_G842W,Missense_G932W,Missense_G932W,Missense_G1150W exm1021359 12 70963659 [A/C] NM_001206971,NM_002837,NM_001206972,NM_001109754 PTPRB,PTPRB,PTPRB,PTPRB EXON Missense_V836L,Missense_V926L,Missense_V926L,Missense_V1144L exm1021369 12 70964914 [T/C] NM_001206971,NM_002837,NM_001206972,NM_001109754 PTPRB,PTPRB,PTPRB,PTPRB EXON Missense_A780T,Missense_A870T,Missense_A870T,Missense_A1088T exm1021377 12 70965009 [A/G] NM_001206971,NM_002837,NM_001206972,NM_001109754 PTPRB,PTPRB,PTPRB,PTPRB EXON Missense_T748I,Missense_T838I,Missense_T838I,Missense_T1056I exm1021381 12 70965613 [T/C] NM_001206971,NM_002837,NM_001206972,NM_001109754 PTPRB,PTPRB,PTPRB,PTPRB EXON Missense_G725R,Missense_G815R,Missense_G815R,Missense_G1033R exm1021389 12 70965843 [T/C] NM_001206971,NM_002837,NM_001206972,NM_001109754 PTPRB,PTPRB,PTPRB,PTPRB EXON Missense_S648N,Missense_S738N,Missense_S738N,Missense_S956N exm1021393 12 70970293 [T/C] NM_001206971,NM_002837,NM_001206972,NM_001109754 PTPRB,PTPRB,PTPRB,PTPRB EXON Missense_Q596R,Missense_Q686R,Missense_Q686R,Missense_Q904R exm1021396 12 70974842 [T/C] NM_001206971,NM_002837,NM_001206972,NM_001109754 PTPRB,PTPRB,PTPRB,PTPRB EXON Missense_R543Q,Missense_R633Q,Missense_R633Q,Missense_R851Q exm1021397 12 70974848 [C/G] NM_001206971,NM_002837,NM_001206972,NM_001109754 PTPRB,PTPRB,PTPRB,PTPRB EXON Missense_S541C,Missense_S631C,Missense_S631C,Missense_S849C exm1021411 12 70980848 [T/C] NM_001206971,NM_002837,NM_001206972,NM_001109754 PTPRB,PTPRB,PTPRB,PTPRB EXON Missense_M442I,Missense_M532I,Missense_M532I,Missense_M750I exm1021419 12 70981024 [A/G] NM_001206971,NM_002837,NM_001206972,NM_001109754 PTPRB,PTPRB,PTPRB,PTPRB EXON Missense_R384C,Missense_R474C,Missense_R474C,Missense_R692C exm1021427 12 70983895 [A/C] NM_001206971,NM_002837,NM_001206972,NM_001109754 PTPRB,PTPRB,PTPRB,PTPRB EXON Silent,Missense_D415E,Missense_D415E,Missense_D633E exm1021431 12 70983956 [A/G] NM_001206971,NM_002837,NM_001206972,NM_001109754 PTPRB,PTPRB,PTPRB,PTPRB EXON Silent,Missense_V395A,Missense_V395A,Missense_V613A exm1021440 12 70986203 [T/C] NM_001206971,NM_002837,NM_001206972,NM_001109754 PTPRB,PTPRB,PTPRB,PTPRB EXON Missense_T329A,Missense_T329A,Missense_T329A,Missense_T547A exm1021449 12 70988334 [T/C] NM_001206971,NM_002837,NM_001206972,NM_001109754 PTPRB,PTPRB,PTPRB,PTPRB EXON Missense_G259R,Missense_G259R,Missense_G259R,Missense_G477R exm1021451 12 70988411 [T/C] NM_001206971,NM_002837,NM_001206972,NM_001109754 PTPRB,PTPRB,PTPRB,PTPRB EXON Missense_R233Q,Missense_R233Q,Missense_R233Q,Missense_R451Q exm1021455 12 70989862 [A/G] NM_001206971,NM_002837,NM_001206972,NM_001109754 PTPRB,PTPRB,PTPRB,PTPRB EXON Missense_R191C,Missense_R191C,Missense_R191C,Missense_R409C exm1021456 12 70989918 [T/C] NM_001206971,NM_002837,NM_001206972,NM_001109754 PTPRB,PTPRB,PTPRB,PTPRB EXON Missense_N172S,Missense_N172S,Missense_N172S,Missense_N390S exm1021461 12 70990054 [T/C] NM_001206971,NM_002837,NM_001206972,NM_001109754 PTPRB,PTPRB,PTPRB,PTPRB EXON Missense_S127G,Missense_S127G,Missense_S127G,Missense_S345G exm1021467 12 71002893 [T/C] NM_001206971,NM_002837,NM_001206972,NM_001109754 PTPRB,PTPRB,PTPRB,PTPRB EXON Missense_R94K,Missense_R94K,Missense_R94K,Missense_R312K exm1021480 12 71003573 [A/C] NM_001206971,NM_002837,NM_001206972,NM_001109754 PTPRB,PTPRB,PTPRB,PTPRB EXON Missense_L8V,Missense_L8V,Missense_L8V,Silent exm1021481 12 71003575 [A/C] NM_001206971,NM_002837,NM_001206972,NM_001109754 PTPRB,PTPRB,PTPRB,PTPRB EXON Missense_G7V,Missense_G7V,Missense_G7V,Silent exm1021484 12 71003584 [T/C] NM_001206971,NM_002837,NM_001206972,NM_001109754 PTPRB,PTPRB,PTPRB,PTPRB EXON Missense_H4R,Missense_H4R,Missense_H4R,Silent exm1021490 12 71016262 [T/C] NM_001109754 PTPRB EXON Missense_E206K exm1021494 12 71016340 [T/C] NM_001109754 PTPRB EXON Missense_G180S exm1021499 12 71016424 [T/C] NM_001109754 PTPRB EXON Missense_G152S exm1021509 12 71029725 [A/C] NM_001109754 PTPRB EXON Missense_K59N exm1021510 12 71029733 [T/C] NM_001109754 PTPRB EXON Missense_D57N exm2271851 12 71043296 [T/C] NM_130846,NM_002849,NM_001207016,NR_073474,NM_001207015 PTPRR,PTPRR,PTPRR,PTPRR,PTPRR Silent,Silent,Silent,Silent,Silent exm1021522 12 71050533 [T/C] NM_130846,NM_002849,NM_001207016,NR_073474,NM_001207015 PTPRR,PTPRR,PTPRR,PTPRR,PTPRR EXON Missense_E366K,Missense_E611K,Missense_E405K,Silent,Missense_E499K exm1021524 12 71054744 [T/C] NM_130846,NM_002849,NM_001207016,NR_073474,NM_001207015 PTPRR,PTPRR,PTPRR,PTPRR,PTPRR EXON Missense_R336Q,Missense_R581Q,Missense_R375Q,Silent,Missense_R469Q exm1021528 12 71056283 [T/C] NM_130846,NM_002849,NM_001207016,NR_073474,NM_001207015 PTPRR,PTPRR,PTPRR,PTPRR,PTPRR EXON Missense_V289I,Missense_V534I,Missense_V328I,Silent,Missense_V422I exm1784673 12 71056319 [T/C] NM_130846,NM_002849,NM_001207016,NR_073474,NM_001207015 PTPRR,PTPRR,PTPRR,PTPRR,PTPRR EXON Missense_V277I,Missense_V522I,Missense_V316I,Silent,Missense_V410I exm1021538 12 71078528 [T/C] NM_130846,NM_002849,NM_001207016,NR_073474,NM_001207015 PTPRR,PTPRR,PTPRR,PTPRR,PTPRR EXON Missense_V194I,Missense_V439I,Missense_V233I,Silent,Missense_V327I exm1021542 12 71092084 [A/G] NM_130846,NM_002849,NM_001207016,NR_073474,NM_001207015 PTPRR,PTPRR,PTPRR,PTPRR,PTPRR EXON Missense_R169C,Missense_R414C,Missense_R208C,Silent,Missense_R302C exm1784700 12 71092124 [T/C] NM_130846,NM_002849,NM_001207016,NR_073474,NM_001207015 PTPRR,PTPRR,PTPRR,PTPRR,PTPRR EXON Missense_I155M,Missense_I400M,Missense_I194M,Silent,Missense_I288M exm1021547 12 71094952 [T/C] NM_130846,NM_002849,NM_001207016,NR_073474,NM_001207015 PTPRR,PTPRR,PTPRR,PTPRR,PTPRR EXON Missense_V142M,Missense_V387M,Missense_V181M,Silent,Missense_V275M exm1021548 12 71094955 [T/C] NM_130846,NM_002849,NM_001207016,NR_073474,NM_001207015 PTPRR,PTPRR,PTPRR,PTPRR,PTPRR EXON Missense_V141I,Missense_V386I,Missense_V180I,Silent,Missense_V274I exm1784703 12 71095090 [T/C] NM_130846,NM_002849,NM_001207016,NR_073474,NM_001207015 PTPRR,PTPRR,PTPRR,PTPRR,PTPRR EXON Missense_V96I,Missense_V341I,Missense_V135I,Silent,Missense_V229I exm2251169 12 71134727 [T/C] NM_130846,NM_002849,NM_001207016,NR_073474,NM_001207015 PTPRR,PTPRR,PTPRR,PTPRR,PTPRR Silent,Silent,Silent,Silent,Silent exm1021556 12 71139653 [T/C] NM_130846,NM_002849,NM_001207016,NR_073474,NM_001207015 PTPRR,PTPRR,PTPRR,PTPRR,PTPRR EXON Missense_A73T,Missense_A318T,Missense_A112T,Silent,Missense_A206T exm1021558 12 71139664 [T/C] NM_130846,NM_002849,NM_001207016,NR_073474,NM_001207015 PTPRR,PTPRR,PTPRR,PTPRR,PTPRR EXON Missense_K69R,Missense_K314R,Missense_K108R,Silent,Missense_K202R exm1021559 12 71139668 [T/C] NM_130846,NM_002849,NM_001207016,NR_073474,NM_001207015 PTPRR,PTPRR,PTPRR,PTPRR,PTPRR EXON Missense_I68V,Missense_I313V,Missense_I107V,Silent,Missense_I201V exm1784708 12 71139761 [T/C] NM_130846,NM_002849,NM_001207016,NR_073474,NM_001207015 PTPRR,PTPRR,PTPRR,PTPRR,PTPRR EXON Missense_E37K,Missense_E282K,Missense_E76K,Silent,Missense_E170K exm1021567 12 71139832 [A/G] NM_130846,NM_002849,NM_001207016,NR_073474,NM_001207015 PTPRR,PTPRR,PTPRR,PTPRR,PTPRR EXON Missense_S13F,Missense_S258F,Missense_S52F,Silent,Missense_S146F exm1021568 12 71139860 [A/G] NM_130846,NM_002849,NM_001207016,NR_073474,NM_001207015 PTPRR,PTPRR,PTPRR,PTPRR,PTPRR EXON Missense_Y4H,Missense_Y249H,Missense_Y43H,Silent,Missense_Y137H exm1021573 12 71147994 [T/C] NM_130846,NM_002849,NM_001207016,NR_073474,NM_001207015 PTPRR,PTPRR,PTPRR,PTPRR,PTPRR EXON Silent,Missense_V239I,Missense_V33I,Silent,Missense_V127I exm1021576 12 71148080 [T/C] NM_130846,NM_002849,NM_001207016,NR_073474,NM_001207015 PTPRR,PTPRR,PTPRR,PTPRR,PTPRR EXON Silent,Missense_K210R,Missense_K4R,Silent,Missense_K98R exm1021579 12 71155262 [T/C] NM_002849,NM_001207015 PTPRR,PTPRR EXON Missense_V206I,Missense_V94I exm1021586 12 71158453 [A/G] NM_002849,NM_001207015 PTPRR,PTPRR EXON Missense_R155C,Missense_R43C exm1021588 12 71158515 [T/C] NM_002849,NM_001207015 PTPRR,PTPRR EXON Missense_R134Q,Missense_R22Q exm1021589 12 71158516 [A/G] NM_002849,NM_001207015 PTPRR,PTPRR EXON Missense_R134W,Missense_R22W exm1021601 12 71286605 [T/C] NM_002849 PTPRR EXON Missense_E71K exm1021608 12 71286697 [A/G] NM_002849 PTPRR EXON Missense_P40L exm1021611 12 71314150 [G/C] NM_002849 PTPRR EXON Missense_F7L exm1021618 12 71519116 [A/G] NM_004616 TSPAN8 EXON Missense_X238R exm1021627 12 71523134 [A/C] NM_004616 TSPAN8 EXON Missense_S213A exm1784736 12 71523146 [A/C] NM_004616 TSPAN8 EXON Missense_V209F exm1021630 12 71526474 [T/A] NM_004616 TSPAN8 EXON Missense_E192V exm1021643 12 71532002 [T/C] NM_004616 TSPAN8 EXON Missense_I90M exm1021649 12 71533534 [C/G] NM_004616 TSPAN8 EXON Missense_G73A exm1021652 12 71533592 [T/C] NM_004616 TSPAN8 EXON Missense_V54I exm1021653 12 71533607 [A/C] NM_004616 TSPAN8 EXON Missense_G49C exm1021654 12 71533622 [T/C] NM_004616 TSPAN8 EXON Missense_G44S exm1021655 12 71537951 [T/C] NM_004616 TSPAN8 EXON Missense_V35I exm-rs1495377 12 71577101 [G/C] exm-rs10879274 12 71633978 [T/C] exm-rs4760790 12 71634794 [A/G] exm-rs7961581 12 71663102 [T/C] exm2271752 12 71741064 [T/C] exm1021669 12 71833933 [T/C] NM_003667 LGR5 EXON Missense_P25S exm1021672 12 71833970 [A/C] NM_003667 LGR5 EXON Missense_H37P exm2251172 12 71834037 [A/G] NM_003667 LGR5 EXON Synonymous_E59E exm1021679 12 71834037 [A/G] NM_003667 LGR5 EXON Synonymous_E59E exm1021699 12 71946853 [A/G] NM_003667 LGR5 EXON Synonymous_L143L exm1021710 12 71947064 [A/G] NM_003667 LGR5 EXON Missense_V214I exm1021711 12 71950407 [A/G] NM_003667 LGR5 EXON Missense_H218R exm1021719 12 71955608 [T/C] NM_003667 LGR5 EXON Missense_V278A exm1784827 12 71960644 [T/C] NM_003667 LGR5 EXON Missense_S341L exm1021731 12 71960658 [A/C] NM_003667 LGR5 EXON Missense_T346P exm1021732 12 71960661 [A/G] NM_003667 LGR5 EXON Missense_V347I exm1021733 12 71960686 [A/G] NM_003667 LGR5 EXON Missense_Q355R exm1021736 12 71965302 [T/C] NM_003667 LGR5 EXON Missense_S360F exm1784829 12 71965349 [T/C] NM_003667 LGR5 EXON Missense_L376F exm1021739 12 71966641 [A/G] NM_003667 LGR5 EXON Missense_H383R exm1021745 12 71971766 [G/C] NM_003667 LGR5 EXON Missense_L424V exm1021747 12 71972585 [A/G] NM_003667 LGR5 EXON Missense_D428N exm1021750 12 71972607 [T/C] NM_003667 LGR5 EXON Missense_S435L exm1021751 12 71972674 [C/G] NM_003667 LGR5 EXON Missense_Q457H exm1021753 12 71972684 [T/C] NM_003667 LGR5 EXON Missense_S461P exm1021755 12 71974058 [C/G] NM_003667 LGR5 EXON Missense_K469N exm1021756 12 71974095 [T/C] NM_003667 LGR5 EXON Missense_F482L exm1021759 12 71974154 [G/C] NM_003667 LGR5 EXON Missense_S501R exm1021762 12 71976241 [T/C] NM_003667 LGR5 EXON Missense_R520C exm1021767 12 71976296 [T/C] NM_003667 LGR5 EXON Missense_S538L exm1021776 12 71977775 [A/G] NM_003667 LGR5 EXON Missense_R662H exm1021777 12 71977787 [T/C] NM_003667 LGR5 EXON Missense_V666A exm1021779 12 71977811 [T/C] NM_003667 LGR5 EXON Missense_T674M exm1784842 12 71978045 [A/G] NM_003667 LGR5 EXON Missense_D752G exm1021795 12 71978131 [G/C] NM_003667 LGR5 EXON Missense_P781A exm1021801 12 71978251 [A/G] NM_003667 LGR5 EXON Missense_I821V exm1021803 12 71978326 [T/C] NM_003667 LGR5 EXON Missense_H846Y exm1021805 12 71978399 [A/C] NM_003667 LGR5 EXON Missense_T870N exm1021808 12 71978443 [A/G] NM_003667 LGR5 EXON Missense_V885M exm1021822 12 72005596 [T/C] NM_144982 ZFC3H1 EXON Missense_N1900S exm2274617 12 72007173 [A/C] NM_144982 ZFC3H1 EXON Missense_S1857A exm1021834 12 72008421 [T/C] NM_144982 ZFC3H1 EXON Missense_K1807R exm1021856 12 72013840 [C/G] NM_144982 ZFC3H1 EXON Missense_L1639V exm1021875 12 72020108 [T/C] NM_144982 ZFC3H1 EXON Missense_K1417E exm1021886 12 72021707 [A/C] NM_144982 ZFC3H1 EXON Missense_Q1318H exm1784892 12 72022747 [A/T] NM_144982 ZFC3H1 EXON Missense_D1299E exm1021904 12 72025628 [T/C] NM_144982 ZFC3H1 EXON Missense_K1134E exm1021915 12 72026099 [A/G] NM_144982 ZFC3H1 EXON Missense_P1005S exm1784905 12 72026261 [T/C] NM_144982 ZFC3H1 EXON Missense_V951I exm1021938 12 72028035 [A/G] NM_144982 ZFC3H1 EXON Missense_S804P exm1021957 12 72036297 [T/C] NM_144982 ZFC3H1 EXON Missense_T516A exm1021958 12 72036317 [T/C] NM_144982 ZFC3H1 EXON Missense_R509Q exm1784932 12 72036335 [A/G] NM_144982 ZFC3H1 EXON Missense_S503L exm1021961 12 72038008 [T/C] NM_144982 ZFC3H1 EXON Missense_R457Q exm1021980 12 72050842 [A/C] NM_144982 ZFC3H1 EXON Missense_D280Y exm1022005 12 72057080 [T/C] NM_144982 ZFC3H1 EXON Missense_Y104C exm1022025 12 72068117 [A/G] NM_031435 THAP2 EXON Missense_R69Q exm1022034 12 72070710 [T/C] NM_031435 THAP2 EXON Missense_T170M exm1022037 12 72070803 [A/G] NM_031435 THAP2 EXON Missense_E201G exm1022042 12 72080550 [A/T] NM_018279 TMEM19 EXON Missense_L30F exm1022043 12 72080582 [A/C] NM_018279 TMEM19 EXON Missense_T41N exm1022045 12 72083379 [T/C] NM_018279 TMEM19 EXON Nonsense_R47X exm1022051 12 72090233 [A/T] NM_018279 TMEM19 EXON Missense_I88F exm1022053 12 72090284 [T/A] NM_018279 TMEM19 EXON Missense_L105M exm2221102 12 72091161 [A/G] NM_018279 TMEM19 EXON Missense_D162N exm1784968 12 72091312 [T/C] NM_018279 TMEM19 EXON Missense_V212A exm1022071 12 72092865 [T/G] NM_018279 TMEM19 EXON Missense_L275V exm1784970 12 72092880 [T/C] NM_018279 TMEM19 EXON Nonsense_Q280X exm1022076 12 72094627 [C/G] NM_018279 TMEM19 EXON Missense_T288S exm1022078 12 72094690 [T/A] NM_018279 TMEM19 EXON Missense_D309V exm1022079 12 72094692 [A/G] NM_018279 TMEM19 EXON Missense_N310D exm1022103 12 72175835 [A/C] NM_014999 RAB21 EXON Missense_E139A exm1022106 12 72176376 [T/A] NM_014999 RAB21 EXON Missense_H158L exm1022110 12 72179344 [A/C] NM_014999 RAB21 EXON Missense_A190E exm1022114 12 72179371 [A/G] NM_014999 RAB21 EXON Missense_G199E exm1022117 12 72179446 [T/C] NM_014999 RAB21 EXON Missense_S224F exm2267448 12 72181905 [A/G] exm1022136 12 72274318 [A/C] NM_022771,NM_001146214,NM_001146213,NR_027449 TBC1D15,TBC1D15,TBC1D15,TBC1D15 EXON Missense_N92H,Missense_N100H,Missense_N92H,Silent exm1022141 12 72278682 [A/G] NM_022771,NM_001146214,NM_001146213,NR_027449 TBC1D15,TBC1D15,TBC1D15,TBC1D15 EXON Missense_M145I,Missense_M153I,Missense_M145I,Silent exm1022142 12 72278705 [C/G] NM_022771,NM_001146214,NM_001146213,NR_027449 TBC1D15,TBC1D15,TBC1D15,TBC1D15 EXON Missense_C153S,Missense_C161S,Missense_C153S,Silent exm1022146 12 72287018 [A/G] NM_022771,NM_001146214,NM_001146213,NR_027449 TBC1D15,TBC1D15,TBC1D15,TBC1D15 EXON Missense_R191G,Missense_R199G,Missense_R191G,Silent exm1022149 12 72287027 [A/C] NM_022771,NM_001146214,NM_001146213,NR_027449 TBC1D15,TBC1D15,TBC1D15,TBC1D15 EXON Missense_L194I,Missense_L202I,Missense_L194I,Silent exm1022153 12 72288109 [A/G] NM_022771,NM_001146214,NM_001146213,NR_027449 TBC1D15,TBC1D15,TBC1D15,TBC1D15 EXON Missense_G221E,Silent,Silent,Silent exm1022176 12 72291696 [T/G] NM_022771,NM_001146214,NM_001146213,NR_027449 TBC1D15,TBC1D15,TBC1D15,TBC1D15 EXON Missense_R403S,Missense_R394S,Missense_R386S,Silent exm1022177 12 72300852 [A/G] NM_022771,NM_001146214,NM_001146213,NR_027449 TBC1D15,TBC1D15,TBC1D15,TBC1D15 EXON Missense_D429N,Missense_D420N,Missense_D412N,Silent exm-rs3759171 12 72307616 [A/G] NM_022771,NM_001146214,NM_001146213,NR_027449 TBC1D15,TBC1D15,TBC1D15,TBC1D15 EXON Synonymous_Q454Q,Synonymous_Q445Q,Synonymous_Q437Q,Silent exm1022209 12 72316962 [A/T] NM_022771,NM_001146214,NM_001146213,NR_027449 TBC1D15,TBC1D15,TBC1D15,TBC1D15 EXON Missense_V685D,Missense_V676D,Missense_V668D,Silent exm1022217 12 72332861 [A/G] NM_173353 TPH2 EXON Missense_G32D exm1022218 12 72335364 [G/C] NM_173353 TPH2 EXON Missense_L36V exm1785087 12 72335380 [A/C] NM_173353 TPH2 EXON Missense_S41Y exm1022226 12 72338074 [G/C] NM_173353 TPH2 EXON Missense_E86Q exm1022241 12 72338466 [A/G] NM_173353 TPH2 EXON Synonymous_P180P exm1022249 12 72366306 [T/C] NM_173353 TPH2 EXON Missense_P206S exm2267361 12 72407477 [A/G] NM_173353 TPH2 Silent exm1022276 12 72425040 [T/C] NM_173353 TPH2 EXON Synonymous_H389H exm1022291 12 72425419 [A/G] NM_173353 TPH2 EXON Missense_D473N exm2271753 12 72609368 [T/C] exm1022309 12 72666650 [A/T] NR_026837,NR_026836,NM_013381 TRHDE-AS1,TRHDE-AS1,TRHDE EXON Silent,Silent,Missense_E31V exm2221109 12 72666962 [G/C] NR_026837,NR_026836,NM_013381 TRHDE-AS1,TRHDE-AS1,TRHDE EXON Silent,Silent,Missense_P135R exm1022326 12 72667286 [A/C] NR_026837,NR_026836,NM_013381 TRHDE-AS1,TRHDE-AS1,TRHDE EXON Silent,Silent,Missense_N243T exm1022332 12 72680654 [G/C] NM_013381 TRHDE EXON Missense_P325A exm-rs12831974 12 72724034 [T/C] NM_013381 TRHDE Silent exm1022364 12 72962370 [A/T] NM_013381 TRHDE EXON Missense_T644S exm2260113 12 73022080 [A/C] NM_013381 TRHDE Silent exm1022390 12 73046930 [A/G] NM_013381 TRHDE EXON Missense_N948S exm1022396 12 73056956 [A/G] NM_013381 TRHDE EXON Missense_G1019E exm2271754 12 73259114 [T/G] exm2267362 12 73551552 [A/G] exm-rs7963521 12 73828956 [T/C] exm-rs1154865 12 73989837 [G/C] exm2271755 12 74089396 [T/C] exm2260114 12 74134791 [A/G] exm-rs10506701 12 74586210 [T/G] NR_038300 LOC100507377 Silent exm2267363 12 74705055 [A/G] exm2251187 12 75144471 [T/C] exm2267450 12 75360228 [A/G] exm1785478 12 75436101 [A/G] NM_139136,NM_001260498,NM_153748,NM_139137,NM_001260497,NM_001260499 KCNC2,KCNC2,KCNC2,KCNC2,KCNC2,KCNC2 EXON Missense_L612F,Silent,Missense_L557F,Silent,Silent,Silent exm1022416 12 75442007 [T/C] NM_139136,NM_001260498,NM_153748,NM_139137,NM_001260497,NM_001260499 KCNC2,KCNC2,KCNC2,KCNC2,KCNC2,KCNC2 EXON Missense_N569S,Missense_N569S,Silent,Missense_N569S,Missense_N569S,Silent exm1022417 12 75442012 [C/G] NM_139136,NM_001260498,NM_153748,NM_139137,NM_001260497,NM_001260499 KCNC2,KCNC2,KCNC2,KCNC2,KCNC2,KCNC2 EXON Missense_D567E,Missense_D567E,Silent,Missense_D567E,Missense_D567E,Silent exm1022419 12 75442064 [A/G] NM_139136,NM_001260498,NM_153748,NM_139137,NM_001260497,NM_001260499 KCNC2,KCNC2,KCNC2,KCNC2,KCNC2,KCNC2 EXON Missense_P550L,Missense_P550L,Silent,Missense_P550L,Missense_P550L,Silent exm1022421 12 75444280 [T/G] NM_139136,NM_001260498,NM_153748,NM_139137,NM_001260497,NM_001260499 KCNC2,KCNC2,KCNC2,KCNC2,KCNC2,KCNC2 EXON Missense_Q502P,Missense_Q502P,Missense_Q502P,Missense_Q502P,Missense_Q502P,Missense_Q502P exm1022483 12 75676045 [A/G] NM_032606 CAPS2 EXON Missense_S552F exm1022486 12 75678741 [T/C] NM_032606 CAPS2 EXON Synonymous_K524K exm1022491 12 75683412 [G/C] NM_032606 CAPS2 EXON Missense_V481L exm1022495 12 75683520 [A/G] NM_032606 CAPS2 EXON Missense_R445C exm1022497 12 75683546 [T/G] NM_032606 CAPS2 EXON Missense_K436T exm1022498 12 75685575 [T/C] NM_032606 CAPS2 EXON Missense_D416N exm1022501 12 75687039 [T/C] NM_032606 CAPS2 EXON Missense_D404N exm1785530 12 75687069 [A/G] NM_032606 CAPS2 EXON Nonsense_R394X exm1022509 12 75692484 [A/G] NM_032606 CAPS2 EXON Missense_L362F exm1022512 12 75692525 [T/C] NM_032606 CAPS2 EXON Missense_Y348C exm1022520 12 75692697 [A/C] NM_032606 CAPS2 EXON Missense_D321Y exm1022521 12 75692700 [A/G] NM_032606 CAPS2 EXON Missense_H320Y exm1022530 12 75693691 [T/C] NM_032606 CAPS2 EXON Synonymous_K279K exm1022531 12 75698541 [T/C] NM_032606 CAPS2 EXON Missense_T278A exm1022538 12 75706646 [A/G] NM_032606 CAPS2 EXON Missense_M233T exm1022539 12 75706669 [T/G] NM_032606 CAPS2 EXON Missense_K225N exm1022546 12 75715330 [A/C] NM_032606 CAPS2 EXON Missense_L125F exm1022552 12 75716998 [C/G] NM_032606 CAPS2 EXON Missense_P65A exm1022558 12 75723613 [T/C] NM_032606 CAPS2 EXON Synonymous_A9A exm1022561 12 75728560 [T/G] NM_152779 GLIPR1L1 EXON Missense_V18L exm1022564 12 75728612 [A/G] NM_152779 GLIPR1L1 EXON Missense_D35G exm1022566 12 75728644 [A/G] NM_152779 GLIPR1L1 EXON Missense_G46S exm1022568 12 75737507 [T/C] NM_152779 GLIPR1L1 EXON Missense_A70V exm2221123 12 75737592 [A/C] NM_152779 GLIPR1L1 EXON Missense_E98D exm1022575 12 75737642 [T/C] NM_152779 GLIPR1L1 EXON Missense_T115M exm1022583 12 75741412 [T/C] NM_152779 GLIPR1L1 EXON Missense_A144V exm1022585 12 75741436 [G/C] NM_152779 GLIPR1L1 EXON Missense_A152G exm1022592 12 75756910 [A/G] NM_152779 GLIPR1L1 EXON Missense_V184I exm1022595 12 75763922 [T/C] NM_152779 GLIPR1L1 EXON Missense_F223S exm1022596 12 75763939 [C/G] NM_152779 GLIPR1L1 EXON Missense_L229V exm1022597 12 75784927 [T/C] NR_072995,NM_152436,NM_001270396 GLIPR1L2,GLIPR1L2,GLIPR1L2 EXON Silent,Missense_W11R,Missense_W11R exm1022604 12 75785047 [A/G] NR_072995,NM_152436,NM_001270396 GLIPR1L2,GLIPR1L2,GLIPR1L2 EXON Silent,Missense_V51I,Missense_V51I exm1022616 12 75804254 [G/C] NR_072995,NM_152436,NM_001270396 GLIPR1L2,GLIPR1L2,GLIPR1L2 EXON Silent,Missense_G92A,Missense_G92A exm1022620 12 75804293 [T/A] NR_072995,NM_152436,NM_001270396 GLIPR1L2,GLIPR1L2,GLIPR1L2 EXON Silent,Missense_D105V,Missense_D105V exm1022625 12 75804411 [G/C] NR_072995,NM_152436,NM_001270396 GLIPR1L2,GLIPR1L2,GLIPR1L2 EXON Silent,Nonsense_Y144X,Nonsense_Y144X exm1022626 12 75807386 [T/G] NR_072995,NM_152436,NM_001270396 GLIPR1L2,GLIPR1L2,GLIPR1L2 EXON Silent,Missense_W163C,Missense_W163C exm1022627 12 75807392 [G/C] NR_072995,NM_152436,NM_001270396 GLIPR1L2,GLIPR1L2,GLIPR1L2 EXON Silent,Missense_H165Q,Missense_H165Q exm1022633 12 75816731 [A/G] NR_072995,NM_152436,NM_001270396 GLIPR1L2,GLIPR1L2,GLIPR1L2 EXON Silent,Missense_R211Q,Missense_R211Q exm1022639 12 75816800 [T/C] NR_072995,NM_152436,NM_001270396 GLIPR1L2,GLIPR1L2,GLIPR1L2 EXON Silent,Missense_M234T,Silent exm1022644 12 75874670 [A/G] NM_006851 GLIPR1 EXON Missense_T4A exm1022653 12 75875623 [T/C] NM_006851 GLIPR1 EXON Missense_P62S exm1022658 12 75875683 [T/C] NM_006851 GLIPR1 EXON Missense_R82W exm1022662 12 75875710 [T/C] NM_006851 GLIPR1 EXON Missense_P91S exm1022683 12 75889428 [T/G] NM_006851 GLIPR1 EXON Missense_L202W exm1022687 12 75892632 [A/G] NM_006851,NM_007043 GLIPR1,KRR1 EXON Nonsense_W225X,Silent exm1022698 12 75893593 [T/C] NM_006851,NM_007043 GLIPR1,KRR1 EXON Silent,Missense_K381R exm1022714 12 75895733 [C/G] NM_007043 KRR1 EXON Missense_Q293H exm1022730 12 75900262 [A/G] NM_007043 KRR1 Silent exm1022737 12 75900382 [T/C] NM_007043 KRR1 EXON Missense_R134Q exm1785609 12 75900618 [T/C] NM_007043 KRR1 EXON Missense_I113V exm1022744 12 75900669 [T/C] NM_007043 KRR1 EXON Missense_E96K exm1022749 12 75902185 [A/G] NM_007043 KRR1 EXON Missense_P43S exm-rs6582298 12 76114872 [A/G] exm2267364 12 76212584 [A/G] exm-rs7307780 12 76220618 [T/C] exm1022781 12 76424603 [A/G] NM_007350 PHLDA1 EXON Missense_P307S exm1785670 12 76424615 [T/C] NM_007350 PHLDA1 EXON Missense_V303I exm1022782 12 76424644 [T/C] NM_007350 PHLDA1 EXON Missense_K293R exm1022786 12 76424753 [T/C] NM_007350 PHLDA1 EXON Missense_A257T exm1022800 12 76424952 [G/C] NM_007350 PHLDA1 EXON Missense_Q190H exm1022804 12 76425085 [A/C] NM_007350 PHLDA1 EXON Missense_S146I exm1022809 12 76425335 [T/C] NM_007350 PHLDA1 EXON Missense_A63T exm1022813 12 76425476 [A/G] NM_007350 PHLDA1 EXON Missense_P16S exm1785707 12 76461252 [T/C] NM_139207,NM_004537 NAP1L1,NAP1L1 EXON Synonymous_A35A,Synonymous_A35A exm2271852 12 76672829 [T/C] exm2267365 12 76704621 [A/G] exm1022870 12 76740029 [T/C] NM_024685 BBS10 EXON Missense_K579R exm1785753 12 76740030 [T/G] NM_024685 BBS10 EXON Missense_K579Q exm1022871 12 76740069 [T/C] NM_024685 BBS10 EXON Missense_N566D exm1022874 12 76740096 [T/C] NM_024685 BBS10 EXON Missense_I557V exm1022875 12 76740134 [T/C] NM_024685 BBS10 EXON Missense_N544S exm1022877 12 76740149 [A/G] NM_024685 BBS10 EXON Missense_P539L exm1022883 12 76740329 [T/G] NM_024685 BBS10 EXON Missense_A479E exm2274618 12 76740353 [A/T] NM_024685 BBS10 EXON Missense_D471V exm1022888 12 76740489 [T/C] NM_024685 BBS10 EXON Missense_K426E exm1022889 12 76740500 [T/C] NM_024685 BBS10 EXON Missense_R422Q exm2251193 12 76740520 [A/G] NM_024685 BBS10 EXON Synonymous_H415H exm1022893 12 76740576 [T/C] NM_024685 BBS10 EXON Missense_I397V exm1022905 12 76740879 [T/C] NM_024685 BBS10 EXON Missense_A296T exm1022907 12 76741000 [T/C] NM_024685 BBS10 EXON Missense_M255I exm1022909 12 76741013 [A/G] NM_024685 BBS10 EXON Missense_A251V exm1022921 12 76741341 [T/C] NM_024685 BBS10 EXON Missense_D142N exm1022927 12 76741492 [C/G] NM_024685 BBS10 EXON Missense_C91W exm2221134 12 76750468 [T/C] NM_001003712,NM_020841 OSBPL8,OSBPL8 EXON Missense_I783M,Missense_I825M exm1022951 12 76763048 [T/C] NM_001003712,NM_020841 OSBPL8,OSBPL8 EXON Missense_I716M,Missense_I758M exm1022952 12 76763053 [T/C] NM_001003712,NM_020841 OSBPL8,OSBPL8 EXON Missense_M715V,Missense_M757V exm2221136 12 76763472 [A/C] NM_001003712,NM_020841 OSBPL8,OSBPL8 EXON Missense_C687G,Missense_C729G exm1785781 12 76763591 [A/C] NM_001003712,NM_020841 OSBPL8,OSBPL8 EXON Missense_R647L,Missense_R689L exm1022970 12 76778063 [A/C] NM_001003712,NM_020841 OSBPL8,OSBPL8 EXON Missense_G492V,Missense_G534V exm1022995 12 76786380 [A/G] NM_001003712,NM_020841 OSBPL8,OSBPL8 EXON Missense_H262Y,Missense_H304Y exm1022997 12 76786398 [T/G] NM_001003712,NM_020841 OSBPL8,OSBPL8 EXON Missense_L256I,Missense_L298I exm1023014 12 76844682 [T/C] NM_001003712,NM_020841 OSBPL8,OSBPL8 EXON Missense_T14A,Missense_T56A exm1023018 12 76853672 [A/G] NM_001003712,NM_020841 OSBPL8,OSBPL8 EXON Silent,Missense_L16F exm1023021 12 76881291 [A/G] NM_001003712,NM_020841 OSBPL8,OSBPL8 EXON Silent,Missense_S14L exm-rs2669010 12 77009060 [A/G] exm2271758 12 77154974 [T/C] exm1023031 12 77199150 [A/G] NM_015336 ZDHHC17 EXON Missense_R84Q exm1785921 12 77202823 [A/G] NM_015336 ZDHHC17 EXON Synonymous_K107K exm2251196 12 77203595 [T/C] NM_015336 ZDHHC17 EXON Synonymous_F167F exm1023037 12 77203623 [A/G] NM_015336 ZDHHC17 EXON Missense_I177V exm1023038 12 77203630 [A/G] NM_015336 ZDHHC17 EXON Missense_K179R exm1023040 12 77208936 [A/T] NM_015336 ZDHHC17 EXON Missense_M185K exm1023042 12 77209681 [A/G] NM_015336 ZDHHC17 EXON Missense_N218S exm1023058 12 77235768 [A/G] NM_015336 ZDHHC17 EXON Missense_N383S exm1023080 12 77256962 [A/G] NM_001321 CSRP2 EXON Missense_P92L exm1023089 12 77259943 [T/C] NM_001321 CSRP2 EXON Missense_C33Y exm1023091 12 77259984 [T/G] NM_001321 CSRP2 EXON Missense_H19Q exm1023095 12 77417795 [T/G] NM_203394 E2F7 EXON Missense_X912Y exm1023101 12 77417874 [T/C] NM_203394 E2F7 EXON Missense_K886R exm1023102 12 77417885 [T/G] NM_203394 E2F7 EXON Missense_D882E exm1023107 12 77419341 [T/A] NM_203394 E2F7 EXON Missense_H854Q exm1023108 12 77419373 [T/C] NM_203394 E2F7 EXON Missense_V844M exm1023128 12 77421726 [T/C] NM_203394 E2F7 EXON Missense_K693E exm1023136 12 77423619 [T/C] NM_203394 E2F7 EXON Missense_M626V exm1023138 12 77423627 [A/G] NM_203394 E2F7 EXON Missense_S623L exm1023153 12 77424098 [A/G] NM_203394 E2F7 EXON Missense_A466V exm1786002 12 77427693 [T/C] NM_203394 E2F7 EXON Missense_E418G exm1023159 12 77427726 [T/C] NM_203394 E2F7 EXON Missense_R407H exm1023160 12 77427727 [T/G] NM_203394 E2F7 EXON Missense_R407S exm1023169 12 77438476 [A/C] NM_203394 E2F7 EXON Missense_V310G exm1023175 12 77439823 [C/G] NM_203394 E2F7 EXON Missense_P275R exm1023179 12 77440006 [T/C] NM_203394 E2F7 EXON Missense_S214N exm1023188 12 77444400 [T/G] NM_203394 E2F7 EXON Missense_T165N exm1023191 12 77449645 [T/C] NM_203394 E2F7 EXON Missense_D120G exm2274619 12 77449702 [T/C] NM_203394 E2F7 EXON Missense_R101Q exm1023198 12 77449790 [A/G] NM_203394 E2F7 EXON Missense_F72L exm1786023 12 77449876 [A/G] NM_203394 E2F7 EXON Missense_P43L exm1023206 12 77458409 [A/C] NM_203394 E2F7 EXON Missense_V3L exm-rs1402279 12 77729385 [T/C] exm2271759 12 77771135 [T/C] exm2260119 12 77813473 [A/G] exm2271760 12 77982647 [T/G] exm1023209 12 78225245 [A/C] NM_014903 NAV3 EXON Missense_P2T exm1023210 12 78225299 [A/G] NM_014903 NAV3 EXON Missense_V20M exm1023213 12 78225374 [A/G] NM_014903 NAV3 EXON Missense_T45A exm1786047 12 78225384 [A/C] NM_014903 NAV3 EXON Missense_E48A exm2260120 12 78234093 [A/G] NM_014903 NAV3 Silent exm1023234 12 78362427 [A/G] NM_014903 NAV3 EXON Missense_A206T exm1023236 12 78362440 [T/C] NM_014903 NAV3 EXON Missense_S210L exm1023238 12 78362474 [T/G] NM_014903 NAV3 EXON Missense_M221I exm2221146 12 78392146 [A/C] NM_014903 NAV3 EXON Missense_A257E exm1023258 12 78400499 [A/G] NM_014903 NAV3 EXON Missense_R394Q exm1023261 12 78400516 [T/C] NM_014903 NAV3 EXON Missense_P400S exm1023266 12 78400603 [T/G] NM_014903 NAV3 EXON Missense_G429C exm1023271 12 78400832 [T/G] NM_014903 NAV3 EXON Missense_L505W exm1023273 12 78400847 [A/G] NM_014903 NAV3 EXON Missense_S510N exm1023275 12 78400891 [A/G] NM_014903 NAV3 EXON Missense_S525G exm1023294 12 78415562 [T/C] NM_014903 NAV3 EXON Missense_S648L exm1023323 12 78452832 [A/G] NM_014903 NAV3 EXON Missense_D858G exm-rs300489 12 78485994 [A/G] NM_014903 NAV3 Silent exm1023332 12 78510661 [A/G] NM_014903 NAV3 EXON Missense_V916I exm1023344 12 78512060 [A/G] NM_014903 NAV3 EXON Missense_S1008N exm1023363 12 78513584 [A/T] NM_014903 NAV3 EXON Missense_K1203I exm1023370 12 78515837 [T/G] NM_014903 NAV3 EXON Missense_E1289D exm1023386 12 78530986 [A/C] NM_014903 NAV3 EXON Missense_L1491I exm1023406 12 78542699 [T/C] NM_014903 NAV3 EXON Synonymous_N1595N exm2221152 12 78569131 [T/C] NM_014903 NAV3 EXON Missense_I1676T exm1023425 12 78571087 [T/C] NM_014903 NAV3 EXON Missense_A1764V exm1023437 12 78579428 [T/C] NM_014903 NAV3 EXON Missense_R1892C exm1023451 12 78583881 [G/C] NM_014903 NAV3 EXON Missense_S2036T exm1786166 12 78592392 [A/G] NM_014903 NAV3 EXON Missense_I2130V exm1023458 12 78592455 [A/G] NM_014903 NAV3 EXON Missense_R2151G exm1023467 12 78594291 [A/G] NM_014903 NAV3 EXON Missense_G2230S exm1023478 12 78604257 [A/G] NM_014903 NAV3 EXON Missense_H2351R exm1023479 12 78604293 [T/C] NM_014903 NAV3 EXON Missense_L2363P exm2271761 12 78636050 [T/C] exm2271853 12 79139541 [T/C] exm2251202 12 79271359 [A/G] NM_001135805,NM_005639 SYT1,SYT1 Silent,Silent exm2271762 12 79391433 [T/C] NM_001135805,NM_005639 SYT1,SYT1 Silent,Silent exm2251205 12 79842793 [A/G] NM_001135805,NM_005639,NM_001135806 SYT1,SYT1,SYT1 EXON Synonymous_A386A,Synonymous_A386A,Synonymous_A386A exm2221166 12 79842878 [T/G] NM_001135805,NM_005639,NM_001135806 SYT1,SYT1,SYT1 EXON Missense_D415Y,Missense_D415Y,Missense_D415Y exm1023533 12 79842893 [A/G] NM_001135805,NM_005639,NM_001135806 SYT1,SYT1,SYT1 EXON Missense_V420I,Missense_V420I,Missense_V420I exm1023559 12 80014927 [T/C] NM_002583 PAWR EXON Missense_I193V exm2271854 12 80062156 [T/C] NM_002583 PAWR Silent exm-rs7297018 12 80062230 [A/G] NM_002583 PAWR Silent exm1023563 12 80083520 [G/C] NM_002583 PAWR EXON Missense_P169A exm1023573 12 80083954 [T/C] NM_002583 PAWR EXON Missense_K24R exm1023574 12 80083964 [C/G] NM_002583 PAWR EXON Missense_E21Q exm2271763 12 80133070 [T/G] exm1023580 12 80169711 [A/T] NM_001244990,NM_001143886,NM_001244992,NM_002480,NM_001143885 PPP1R12A,PPP1R12A,PPP1R12A,PPP1R12A,PPP1R12A EXON Missense_X996K,Missense_X944K,Missense_X975K,Missense_X1031K,Missense_X1031K exm1023587 12 80182461 [C/G] NM_001244990,NM_001143886,NM_001244992,NM_002480,NM_001143885 PPP1R12A,PPP1R12A,PPP1R12A,PPP1R12A,PPP1R12A EXON Missense_R923S,Missense_R836S,Missense_R867S,Missense_R923S,Missense_R923S exm1023598 12 80190582 [A/G] NM_001244990,NM_001143886,NM_001244992,NM_002480,NM_001143885 PPP1R12A,PPP1R12A,PPP1R12A,PPP1R12A,PPP1R12A EXON Missense_I814T,Missense_I727T,Missense_I758T,Missense_I814T,Missense_I814T exm1023604 12 80190688 [T/C] NM_001244990,NM_001143886,NM_001244992,NM_002480,NM_001143885 PPP1R12A,PPP1R12A,PPP1R12A,PPP1R12A,PPP1R12A EXON Missense_T779A,Missense_T692A,Missense_T723A,Missense_T779A,Missense_T779A exm1023605 12 80190712 [C/G] NM_001244990,NM_001143886,NM_001244992,NM_002480,NM_001143885 PPP1R12A,PPP1R12A,PPP1R12A,PPP1R12A,PPP1R12A EXON Missense_P771A,Missense_P684A,Missense_P715A,Missense_P771A,Missense_P771A exm1023616 12 80199478 [T/C] NM_001244990,NM_001143886,NM_001244992,NM_002480,NM_001143885 PPP1R12A,PPP1R12A,PPP1R12A,PPP1R12A,PPP1R12A EXON Missense_I632V,Missense_I545V,Missense_I576V,Missense_I632V,Missense_I632V exm1023617 12 80199489 [A/G] NM_001244990,NM_001143886,NM_001244992,NM_002480,NM_001143885 PPP1R12A,PPP1R12A,PPP1R12A,PPP1R12A,PPP1R12A EXON Missense_T628M,Missense_T541M,Missense_T572M,Missense_T628M,Missense_T628M exm1023631 12 80201093 [T/C] NM_001244990,NM_001143886,NM_001244992,NM_002480,NM_001143885 PPP1R12A,PPP1R12A,PPP1R12A,PPP1R12A,PPP1R12A EXON Missense_R523Q,Missense_R436Q,Missense_R523Q,Missense_R523Q,Missense_R523Q exm1023641 12 80203752 [T/G] NM_001244990,NM_001143886,NM_001244992,NM_002480,NM_001143885 PPP1R12A,PPP1R12A,PPP1R12A,PPP1R12A,PPP1R12A EXON Missense_E426D,Missense_E339D,Missense_E426D,Missense_E426D,Missense_E426D exm1023659 12 80239178 [A/G] NM_001244990,NM_001143886,NM_001244992,NM_002480,NM_001143885 PPP1R12A,PPP1R12A,PPP1R12A,PPP1R12A,PPP1R12A EXON Missense_H131Y,Missense_H44Y,Missense_H131Y,Missense_H131Y,Missense_H131Y exm-rs10506821 12 80496923 [C/G] exm1023677 12 80605733 [A/G] NM_173591 OTOGL EXON Missense_G33R exm1023684 12 80613641 [A/G] NM_173591 OTOGL EXON Missense_G86R exm2267367 12 80614851 [A/G] NM_173591 OTOGL Silent exm1023687 12 80615879 [A/C] NM_173591 OTOGL EXON Missense_M106L exm1023690 12 80616011 [T/C] NM_173591 OTOGL EXON Missense_R150W exm1023697 12 80626721 [A/G] NM_173591 OTOGL EXON Missense_D212N exm1023703 12 80632651 [A/G] NM_173591 OTOGL EXON Missense_A271T exm1023704 12 80632673 [T/C] NM_173591 OTOGL EXON Missense_S278L exm1023707 12 80632730 [T/C] NM_173591 OTOGL EXON Missense_P297L exm1023709 12 80632742 [A/G] NM_173591 OTOGL EXON Missense_G301E exm1023712 12 80645546 [A/G] NM_173591 OTOGL EXON Missense_I367V exm1023713 12 80645885 [T/C] NM_173591 OTOGL EXON Missense_R388W exm1023718 12 80645980 [A/T] NM_173591 OTOGL EXON Missense_D419E exm1023721 12 80647296 [A/G] NM_173591 OTOGL EXON Missense_G437S exm1023735 12 80651708 [T/G] NM_173591 OTOGL EXON Missense_Q596H exm1023736 12 80651716 [A/G] NM_173591 OTOGL EXON Missense_S599N exm1023742 12 80655816 [T/G] NM_173591 OTOGL EXON Missense_C644G exm1023743 12 80655832 [T/A] NM_173591 OTOGL EXON Missense_H649L exm1023744 12 80655834 [A/G] NM_173591 OTOGL EXON Missense_V650I exm1023745 12 80655840 [A/G] NM_173591 OTOGL EXON Missense_V652M exm1023746 12 80655849 [T/C] NM_173591 OTOGL EXON Missense_P655S exm1023747 12 80658796 [A/C] NM_173591 OTOGL EXON Missense_H668P exm1023760 12 80660351 [T/C] NM_173591 OTOGL EXON Missense_P773L exm1023761 12 80660363 [T/C] NM_173591 OTOGL EXON Missense_F777S exm1023767 12 80661098 [T/C] NM_173591 OTOGL EXON Missense_S810L exm1023771 12 80665460 [A/G] NM_173591 OTOGL EXON Missense_D842N exm1023773 12 80665473 [T/C] NM_173591 OTOGL EXON Missense_P846L exm1023774 12 80665511 [A/G] NM_173591 OTOGL EXON Missense_T859A exm1023792 12 80690698 [T/C] NM_173591 OTOGL EXON Missense_V998A exm1023797 12 80696475 [A/G] NM_173591 OTOGL EXON Missense_Y1033C exm1023798 12 80696522 [A/G] NM_173591 OTOGL EXON Missense_R1049G exm1023804 12 80699475 [T/G] NM_173591 OTOGL EXON Missense_Q1102H exm1023806 12 80704413 [T/C] NM_173591 OTOGL EXON Missense_I1110T exm1023811 12 80704484 [A/G] NM_173591 OTOGL EXON Missense_I1134V exm1023817 12 80707293 [A/G] NM_173591 OTOGL EXON Missense_D1154G exm1023832 12 80712433 [G/C] NM_173591 OTOGL EXON Missense_H1239D exm1023834 12 80712477 [C/G] NM_173591 OTOGL EXON Missense_F1253L exm1023839 12 80714288 [A/T] NM_173591 OTOGL EXON Missense_W1288R exm1023840 12 80714310 [T/A] NM_173591 OTOGL EXON Missense_H1295L exm1023857 12 80722873 [T/C] NM_173591 OTOGL EXON Missense_A1432V exm1023868 12 80729888 [A/G] NM_173591 OTOGL EXON Missense_S1514N exm1023869 12 80730195 [T/C] NM_173591 OTOGL EXON Missense_R1526W exm1023881 12 80732900 [A/G] NM_173591 OTOGL EXON Missense_E1627K exm1023888 12 80735737 [A/G] NM_173591 OTOGL EXON Missense_N1678S exm1023897 12 80735904 [T/A] NM_173591 OTOGL EXON Missense_L1734I exm1023907 12 80747209 [C/G] NM_173591 OTOGL EXON Missense_L1829V exm1023908 12 80747242 [A/G] NM_173591 OTOGL EXON Missense_I1840V exm1023914 12 80749539 [A/C] NM_173591 OTOGL EXON Missense_P1864T exm1023921 12 80749632 [A/G] NM_173591 OTOGL EXON Missense_D1895N exm1023935 12 80750659 [A/G] NM_173591 OTOGL EXON Missense_R1986Q exm1023946 12 80752642 [T/G] NM_173591 OTOGL EXON Missense_C2068G exm1023950 12 80760369 [A/G] NM_173591 OTOGL EXON Missense_I2086V exm1023953 12 80761411 [T/G] NM_173591 OTOGL EXON Missense_L2125F exm1023955 12 80761430 [A/G] NM_173591 OTOGL EXON Missense_A2132T exm1023958 12 80761995 [A/G] NM_173591 OTOGL EXON Missense_Y2165C exm1023962 12 80764360 [T/C] NM_173591 OTOGL EXON Missense_T2200I exm1023964 12 80764380 [T/A] NM_173591 OTOGL EXON Missense_T2207S exm1023966 12 80764403 [T/G] NM_173591 OTOGL EXON Missense_D2214E exm1023967 12 80764425 [T/A] NM_173591 OTOGL EXON Missense_Y2222N exm1023968 12 80764434 [A/G] NM_173591 OTOGL EXON Missense_V2225I exm1023970 12 80765800 [A/G] NM_173591 OTOGL EXON Missense_N2237S exm1023976 12 80770980 [T/C] NM_173591 OTOGL EXON Missense_P2278S exm1023977 12 80771630 [A/G] NM_173591 OTOGL EXON Missense_I2279M exm1023980 12 80771692 [A/G] NM_173591 OTOGL EXON Missense_S2300N exm1023982 12 80771734 [A/G] NM_173591 OTOGL EXON Missense_R2314Q exm1023986 12 80771818 [A/C] NM_173591 OTOGL EXON Missense_Q2342P exm1023988 12 80838175 [T/C] NM_001145026 PTPRQ EXON Missense_T17I exm1023992 12 80838564 [T/C] NM_001145026 PTPRQ EXON Missense_T33I exm2221173 12 80839309 [A/G] NM_001145026 PTPRQ EXON Missense_G68R exm1024022 12 80889829 [T/A] NM_001145026 PTPRQ EXON Missense_V473D exm1024028 12 80899901 [A/C] NM_001145026 PTPRQ EXON Missense_Q619K exm1024031 12 80900348 [T/G] NM_001145026 PTPRQ EXON Missense_V647G exm1024033 12 80900381 [T/C] NM_001145026 PTPRQ EXON Missense_V658A exm1024037 12 80904143 [T/C] NM_001145026 PTPRQ EXON Missense_S695P exm1024038 12 80904188 [A/G] NM_001145026 PTPRQ EXON Missense_N710D exm1024042 12 80933609 [A/G] NM_001145026 PTPRQ EXON Missense_I842V exm1024045 12 80935345 [T/C] NM_001145026 PTPRQ EXON Missense_F884L exm1024048 12 80935411 [G/C] NM_001145026 PTPRQ EXON Missense_A906P exm1024050 12 80935439 [A/G] NM_001145026 PTPRQ EXON Missense_Y915C exm1024052 12 80935492 [A/G] NM_001145026 PTPRQ EXON Missense_T933A exm1024054 12 80935906 [G/C] NM_001145026 PTPRQ EXON Missense_L990V exm1024055 12 80935915 [A/G] NM_001145026 PTPRQ EXON Missense_T993A exm1024058 12 80936026 [A/G] NM_001145026 PTPRQ EXON Missense_N1030D exm1024075 12 80982097 [A/G] NM_001145026 PTPRQ EXON Missense_Y1320C exm1024088 12 81007527 [T/C] NM_001145026 PTPRQ EXON Missense_I1520T exm1024107 12 81028839 [A/G] NM_001145026 PTPRQ EXON Missense_E1796K exm1024113 12 81051764 [A/G] NM_001145026 PTPRQ EXON Missense_Y1867C exm1024117 12 81062856 [A/G] NM_001145026 PTPRQ EXON Missense_R1916K exm1024119 12 81063153 [T/G] NM_001145026 PTPRQ EXON Missense_K1949N exm1024127 12 81064255 [A/G] NM_001145026 PTPRQ EXON Missense_M2024V exm1024132 12 81101577 [A/G] NM_002469 MYF6 EXON Missense_V27M exm1024137 12 81101767 [A/C] NM_002469 MYF6 EXON Missense_A90D exm1786561 12 81101790 [T/G] NM_002469 MYF6 EXON Missense_A98S exm1024139 12 81101832 [T/G] NM_002469 MYF6 EXON Missense_A112S exm1024140 12 81101845 [T/C] NM_002469 MYF6 EXON Missense_L116P exm1024147 12 81102327 [A/C] NM_002469 MYF6 EXON Missense_T182P exm1024148 12 81102342 [A/T] NM_002469 MYF6 EXON Missense_W187R exm2251209 12 81110980 [A/G] NM_005593 MYF5 EXON Synonymous_L46L exm1024161 12 81110980 [A/G] NM_005593 MYF5 EXON Synonymous_L46L exm2221180 12 81110996 [A/G] NM_005593 MYF5 EXON Missense_D52N exm1786570 12 81111182 [A/C] NM_005593 MYF5 EXON Missense_P114T exm1024183 12 81112786 [A/G] NM_005593 MYF5 EXON Missense_T242A exm2271764 12 81173501 [T/C] exm1024193 12 81205402 [T/C] NM_004664 LIN7A EXON Missense_V182I exm2271855 12 81270272 [T/G] NM_004664 LIN7A Silent exm1786600 12 81471954 [C/G] NM_024560 ACSS3 EXON Missense_G19R exm2267454 12 81520738 [A/G] NM_024560 ACSS3 Silent exm1024239 12 81528625 [T/C] NM_024560 ACSS3 EXON Missense_H163Y exm1024256 12 81536892 [T/G] NM_024560 ACSS3 EXON Missense_V263F exm1024267 12 81568591 [T/G] NM_024560 ACSS3 EXON Missense_A375S exm1024272 12 81568669 [T/C] NM_024560 ACSS3 EXON Missense_R401C exm1024278 12 81593224 [A/G] NM_024560 ACSS3 Silent exm1024297 12 81627215 [T/G] NM_024560 ACSS3 EXON Missense_A562S exm1024303 12 81647107 [A/G] NM_024560 ACSS3 EXON Missense_V581M exm1024316 12 81655761 [T/G] NM_001220473,NM_001220480,NM_001220474,NM_003625,NM_001220478,NM_001220479,NM_001220477,NM_001220476,NR_038265,NM_001220475 PPFIA2,PPFIA2,PPFIA2,PPFIA2,PPFIA2,PPFIA2,PPFIA2,PPFIA2,PPFIA2,PPFIA2 EXON Silent,Missense_X444C,Silent,Missense_X1258C,Missense_X1153C,Silent,Missense_X1157C,Missense_X1252C,Silent,Missense_X1237C exm1024329 12 81661822 [T/C] NM_001220473,NM_001220480,NM_001220474,NM_003625,NM_001220478,NM_001220479,NM_001220477,NM_001220476,NR_038265,NM_001220475 PPFIA2,PPFIA2,PPFIA2,PPFIA2,PPFIA2,PPFIA2,PPFIA2,PPFIA2,PPFIA2,PPFIA2 EXON Missense_A1119T,Missense_A305T,Missense_A1104T,Missense_A1119T,Missense_A1014T,Missense_A655T,Missense_A1018T,Missense_A1113T,Silent,Missense_A1098T exm1024331 12 81661833 [T/C] NM_001220473,NM_001220480,NM_001220474,NM_003625,NM_001220478,NM_001220479,NM_001220477,NM_001220476,NR_038265,NM_001220475 PPFIA2,PPFIA2,PPFIA2,PPFIA2,PPFIA2,PPFIA2,PPFIA2,PPFIA2,PPFIA2,PPFIA2 EXON Missense_R1115H,Missense_R301H,Missense_R1100H,Missense_R1115H,Missense_R1010H,Missense_R651H,Missense_R1014H,Missense_R1109H,Silent,Missense_R1094H exm1024334 12 81671193 [A/T] NM_001220473,NM_001220480,NM_001220474,NM_003625,NM_001220478,NM_001220479,NM_001220477,NM_001220476,NR_038265,NM_001220475 PPFIA2,PPFIA2,PPFIA2,PPFIA2,PPFIA2,PPFIA2,PPFIA2,PPFIA2,PPFIA2,PPFIA2 EXON Synonymous_R1071R,Synonymous_R257R,Synonymous_R1056R,Synonymous_R1071R,Synonymous_R966R,Synonymous_R607R,Synonymous_R970R,Synonymous_R1065R,Silent,Synonymous_R1050R exm2221182 12 81719610 [A/G] NM_001220473,NM_001220480,NM_001220474,NM_003625,NM_001220478,NM_001220479,NM_001220477,NM_001220476,NR_038265,NM_001220475 PPFIA2,PPFIA2,PPFIA2,PPFIA2,PPFIA2,PPFIA2,PPFIA2,PPFIA2,PPFIA2,PPFIA2 EXON Missense_L863P,Missense_L80P,Missense_L845P,Missense_L863P,Missense_L764P,Missense_L430P,Missense_L789P,Missense_L863P,Silent,Missense_L863P exm1024353 12 81734869 [T/C] NM_001220473,NM_001220480,NM_001220474,NM_003625,NM_001220478,NM_001220479,NM_001220477,NM_001220476,NR_038265,NM_001220475 PPFIA2,PPFIA2,PPFIA2,PPFIA2,PPFIA2,PPFIA2,PPFIA2,PPFIA2,PPFIA2,PPFIA2 EXON Missense_N794S,Missense_N11S,Missense_N776S,Missense_N794S,Missense_N695S,Missense_N361S,Missense_N720S,Missense_N794S,Silent,Missense_N794S exm1024355 12 81734975 [C/G] NM_001220473,NM_001220480,NM_001220474,NM_003625,NM_001220478,NM_001220479,NM_001220477,NM_001220476,NR_038265,NM_001220475 PPFIA2,PPFIA2,PPFIA2,PPFIA2,PPFIA2,PPFIA2,PPFIA2,PPFIA2,PPFIA2,PPFIA2 EXON Missense_E759Q,Silent,Missense_E741Q,Missense_E759Q,Missense_E660Q,Missense_E326Q,Missense_E685Q,Missense_E759Q,Silent,Missense_E759Q exm1786666 12 81741409 [A/G] NM_001220473,NM_001220480,NM_001220474,NM_003625,NM_001220478,NM_001220479,NM_001220477,NM_001220476,NR_038265,NM_001220475 PPFIA2,PPFIA2,PPFIA2,PPFIA2,PPFIA2,PPFIA2,PPFIA2,PPFIA2,PPFIA2,PPFIA2 EXON Missense_S712L,Silent,Missense_S694L,Missense_S712L,Missense_S613L,Missense_S279L,Missense_S638L,Missense_S712L,Silent,Missense_S712L exm1024385 12 81751967 [T/C] NM_001220473,NM_001220480,NM_001220474,NM_003625,NM_001220478,NM_001220479,NM_001220477,NM_001220476,NR_038265,NM_001220475 PPFIA2,PPFIA2,PPFIA2,PPFIA2,PPFIA2,PPFIA2,PPFIA2,PPFIA2,PPFIA2,PPFIA2 EXON Missense_R556Q,Silent,Missense_R538Q,Missense_R556Q,Missense_R457Q,Missense_R123Q,Missense_R482Q,Missense_R556Q,Silent,Missense_R556Q exm2251211 12 81756516 [T/C] NM_001220473,NM_001220480,NM_001220474,NM_003625,NM_001220478,NM_001220479,NM_001220477,NM_001220476,NR_038265,NM_001220475 PPFIA2,PPFIA2,PPFIA2,PPFIA2,PPFIA2,PPFIA2,PPFIA2,PPFIA2,PPFIA2,PPFIA2 EXON Synonymous_Q531Q,Silent,Synonymous_Q513Q,Synonymous_Q531Q,Synonymous_Q432Q,Synonymous_Q98Q,Synonymous_Q457Q,Synonymous_Q531Q,Silent,Synonymous_Q531Q exm1024405 12 81777993 [T/C] NM_001220473,NM_001220474,NM_003625,NM_001220478,NM_001220477,NM_001220476,NR_038265,NM_001220475 PPFIA2,PPFIA2,PPFIA2,PPFIA2,PPFIA2,PPFIA2,PPFIA2,PPFIA2 EXON Missense_D265N,Missense_D247N,Missense_D265N,Missense_D166N,Missense_D191N,Missense_D265N,Silent,Missense_D265N exm1024408 12 81778022 [T/C] NM_001220473,NM_001220474,NM_003625,NM_001220478,NM_001220477,NM_001220476,NR_038265,NM_001220475 PPFIA2,PPFIA2,PPFIA2,PPFIA2,PPFIA2,PPFIA2,PPFIA2,PPFIA2 EXON Missense_R255H,Missense_R237H,Missense_R255H,Missense_R156H,Missense_R181H,Missense_R255H,Silent,Missense_R255H exm2251212 12 81885531 [T/C] NM_001220473,NM_001220474,NM_003625,NM_001220478,NM_001220477,NM_001220476,NR_038265,NM_001220475 PPFIA2,PPFIA2,PPFIA2,PPFIA2,PPFIA2,PPFIA2,PPFIA2,PPFIA2 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm2267368 12 82346908 [A/G] exm2267369 12 82666115 [A/G] exm2271856 12 82701485 [T/G] exm1024437 12 82747063 [T/C] NR_033192,NM_014167 CCDC59,CCDC59 EXON Silent,Missense_E198G exm1024439 12 82747091 [T/C] NR_033192,NM_014167 CCDC59,CCDC59 EXON Silent,Missense_E189K exm1024441 12 82748291 [A/G] NR_033192,NM_014167 CCDC59,CCDC59 EXON Silent,Missense_R183C exm1024443 12 82748339 [T/G] NR_033192,NM_014167 CCDC59,CCDC59 EXON Silent,Missense_T167P exm1024455 12 82752003 [T/C] NR_033192,NM_014167 CCDC59,CCDC59 EXON Silent,Synonymous_E51E exm1024458 12 82752034 [T/C] NR_033192,NM_014167 CCDC59,CCDC59 EXON Silent,Missense_H41R exm1024459 12 82752037 [T/G] NR_033192,NM_014167 CCDC59,CCDC59 EXON Silent,Missense_N40T exm1024463 12 82752080 [T/C] NR_033192,NM_014167 CCDC59,CCDC59 EXON Silent,Missense_G26R exm2221186 12 82752104 [A/G] NR_033192,NM_014167 CCDC59,CCDC59 EXON Silent,Missense_R18C exm1024464 12 82752133 [C/G] NR_033192,NM_014167 CCDC59,CCDC59 EXON Silent,Missense_A8G exm1024473 12 82752457 [C/G] NR_033192,NM_032230 CCDC59,METTL25 EXON Silent,Missense_T38S exm1024474 12 82752467 [C/G] NR_033192,NM_032230 CCDC59,METTL25 EXON Silent,Missense_F41L exm1024477 12 82752525 [T/G] NR_033192,NM_032230 CCDC59,METTL25 EXON Silent,Missense_A61S exm1024480 12 82752543 [T/G] NR_033192,NM_032230 CCDC59,METTL25 EXON Silent,Missense_S67A exm1024481 12 82752559 [T/G] NR_033192,NM_032230 CCDC59,METTL25 EXON Silent,Missense_L72R exm1024494 12 82780723 [A/G] NM_032230 METTL25 EXON Missense_R134Q exm1024497 12 82783654 [A/G] NM_032230 METTL25 EXON Missense_M162V exm1024509 12 82792787 [A/C] NM_032230 METTL25 EXON Missense_Q249K exm1024511 12 82792893 [T/C] NM_032230 METTL25 EXON Missense_S284F exm1024513 12 82792949 [A/G] NM_032230 METTL25 EXON Missense_E303K exm1024525 12 82796826 [T/C] NM_032230 METTL25 EXON Missense_T399I exm1024530 12 82824729 [T/G] NM_032230 METTL25 EXON Missense_W446L exm1024538 12 82850523 [A/G] NM_032230 METTL25 EXON Missense_K499R exm1024541 12 82850565 [A/G] NM_032230 METTL25 EXON Missense_R513Q exm1024545 12 82870469 [A/G] NM_032230 METTL25 EXON Missense_R540Q exm1024550 12 82871131 [C/G] NM_032230 METTL25 EXON Missense_Q573H exm2267455 12 83239281 [A/G] NM_152588 TMTC2 Silent exm1024564 12 83250899 [A/T] NM_152588 TMTC2 EXON Missense_Y65F exm1024567 12 83250971 [T/C] NM_152588 TMTC2 EXON Missense_L89P exm1786912 12 83251039 [A/G] NM_152588 TMTC2 EXON Missense_D112N exm1024572 12 83251105 [T/G] NM_152588 TMTC2 EXON Missense_A134S exm1024575 12 83251120 [C/G] NM_152588 TMTC2 EXON Missense_R139G exm1024591 12 83289774 [A/G] NM_152588 TMTC2 EXON Missense_T278A exm1024594 12 83289885 [A/G] NM_152588 TMTC2 EXON Missense_A315T exm2276260 12 83289939 [A/G] NM_152588 TMTC2 EXON Missense_V333I exm1024598 12 83289983 [T/G] NM_152588 TMTC2 EXON Missense_Q347H exm1024600 12 83290083 [A/G] NM_152588 TMTC2 EXON Missense_V381I exm1024603 12 83290105 [G/C] NM_152588 TMTC2 EXON Missense_P388R exm1024609 12 83290270 [A/C] NM_152588 TMTC2 EXON Missense_Y443S exm1024625 12 83359384 [T/C] NM_152588 TMTC2 EXON Missense_T577M exm1024629 12 83359488 [G/C] NM_152588 TMTC2 EXON Missense_L612V exm1024630 12 83359501 [A/G] NM_152588 TMTC2 EXON Missense_Y616C exm1786939 12 83360719 [A/G] NM_152588 TMTC2 EXON Missense_E631K exm1024632 12 83360729 [A/G] NM_152588 TMTC2 EXON Missense_Q634R exm2267370 12 83413964 [A/G] NM_152588 TMTC2 Silent exm1024639 12 83424581 [A/G] NM_152588 TMTC2 EXON Missense_R692H exm1024644 12 83444755 [A/G] NM_152588 TMTC2 EXON Missense_S742N exm1024652 12 83526032 [A/G] NM_152588 TMTC2 EXON Missense_N792S exm1024656 12 83526116 [A/G] NM_152588 TMTC2 EXON Missense_R820H exm2271766 12 83733007 [T/C] exm-rs10862691 12 83941693 [T/C] exm-rs2403106 12 84008275 [A/G] exm2267456 12 84346746 [A/G] exm2271767 12 84369765 [T/G] exm-rs1545843 12 84564068 [A/G] exm2267371 12 84875392 [A/G] exm2251226 12 85165879 [T/C] exm1024660 12 85255418 [A/T] NM_001146335,NM_182767 SLC6A15,SLC6A15 EXON Missense_D622V,Missense_D729V exm1024664 12 85255476 [T/C] NM_001146335,NM_182767 SLC6A15,SLC6A15 EXON Missense_G603R,Missense_G710R exm1024668 12 85255552 [A/C] NM_001146335,NM_182767 SLC6A15,SLC6A15 EXON Missense_E577D,Missense_E684D exm2251227 12 85255750 [A/T] NM_001146335,NM_182767 SLC6A15,SLC6A15 EXON Synonymous_G511G,Synonymous_G618G exm2221203 12 85257227 [A/C] NM_001146335,NM_182767 SLC6A15,SLC6A15 EXON Missense_I496M,Missense_I603M exm1024682 12 85257265 [T/C] NM_001146335,NM_182767 SLC6A15,SLC6A15 EXON Missense_N484D,Missense_N591D exm1024699 12 85266484 [A/G] NM_001146335,NM_182767 SLC6A15,SLC6A15 EXON Missense_A293V,Missense_A400V exm1787032 12 85270295 [T/C] NM_001146335,NM_182767 SLC6A15,SLC6A15 EXON Missense_R176H,Missense_R283H exm1024715 12 85277561 [A/T] NM_001146335,NM_182767,NM_018057 SLC6A15,SLC6A15,SLC6A15 EXON Silent,Silent,Missense_D278V exm1024716 12 85277573 [T/C] NM_001146335,NM_182767,NM_018057 SLC6A15,SLC6A15,SLC6A15 EXON Silent,Silent,Missense_N274S exm1024717 12 85277592 [T/C] NM_001146335,NM_182767,NM_018057 SLC6A15,SLC6A15,SLC6A15 EXON Silent,Silent,Missense_G268R exm1024720 12 85277615 [A/G] NM_001146335,NM_182767,NM_018057 SLC6A15,SLC6A15,SLC6A15 EXON Silent,Silent,Missense_L260P exm1024723 12 85277713 [A/C] NM_001146335,NM_182767,NM_018057 SLC6A15,SLC6A15,SLC6A15 EXON Missense_K120N,Missense_K227N,Missense_K227N exm1024727 12 85279295 [T/C] NM_001146335,NM_182767,NM_018057 SLC6A15,SLC6A15,SLC6A15 EXON Missense_S58G,Missense_S165G,Missense_S165G exm1024736 12 85285755 [T/C] NM_001146335,NM_182767,NM_018057 SLC6A15,SLC6A15,SLC6A15 EXON Silent,Missense_T49A,Missense_T49A exm2260131 12 85391419 [T/G] exm1024751 12 85411290 [T/C] NM_001100917 TSPAN19 EXON Missense_K180R exm1024752 12 85411299 [G/C] NM_001100917 TSPAN19 EXON Missense_S177C exm1024754 12 85413412 [T/C] NM_001100917 TSPAN19 EXON Missense_Q148R exm-IND12-83947680 12 85423550 [I/D] NM_001100917 TSPAN19 EXON exm1024769 12 85423670 [A/C] NM_001100917 TSPAN19 EXON Nonsense_G19X exm1024770 12 85423676 [T/C] NM_001100917 TSPAN19 EXON Missense_I17V exm1024775 12 85431995 [T/C] NM_001079910 LRRIQ1 EXON Missense_A14V exm1024776 12 85432040 [A/T] NM_001079910 LRRIQ1 EXON Missense_I29N exm1024778 12 85438499 [A/G] NM_001079910 LRRIQ1 EXON Missense_C83Y exm1024786 12 85438584 [T/G] NM_001079910 LRRIQ1 EXON Missense_I111M exm1024790 12 85439814 [T/A] NM_001079910 LRRIQ1 EXON Missense_E118V exm1024791 12 85439820 [A/G] NM_001079910 LRRIQ1 EXON Missense_E120G exm1024797 12 85441102 [C/G] NM_001079910 LRRIQ1 EXON Missense_Q178E exm1024800 12 85441189 [T/C] NM_001079910 LRRIQ1 EXON Nonsense_R207X exm1024809 12 85449351 [A/C] NM_001079910 LRRIQ1 EXON Missense_Q260H exm1024816 12 85449499 [G/C] NM_001079910 LRRIQ1 EXON Missense_Q310E exm1787082 12 85449613 [C/G] NM_001079910 LRRIQ1 EXON Missense_E348Q exm1024821 12 85449658 [A/G] NM_001079910 LRRIQ1 EXON Missense_E363K exm1024823 12 85449689 [A/C] NM_001079910 LRRIQ1 EXON Missense_Q373P exm1024824 12 85449719 [A/G] NM_001079910 LRRIQ1 EXON Missense_K383R exm2274620 12 85449874 [A/G] NM_001079910 LRRIQ1 EXON Missense_E435K exm2275392 12 85449970 [T/G] NM_001079910 LRRIQ1 EXON Nonsense_E467X exm1024836 12 85450009 [A/G] NM_001079910 LRRIQ1 EXON Missense_M480V exm1024841 12 85450168 [G/C] NM_001079910 LRRIQ1 EXON Missense_D533H exm1024843 12 85450234 [A/G] NM_001079910 LRRIQ1 EXON Missense_I555V exm1024844 12 85450243 [A/G] NM_001079910 LRRIQ1 EXON Missense_G558R exm1024846 12 85450291 [A/G] NM_001079910 LRRIQ1 EXON Missense_I574V exm1024850 12 85450365 [T/A] NM_001079910 LRRIQ1 EXON Missense_L598F exm1024852 12 85450426 [A/G] NM_001079910 LRRIQ1 EXON Missense_E619K exm1024854 12 85450451 [A/T] NM_001079910 LRRIQ1 EXON Missense_N627I exm1024859 12 85450685 [A/T] NM_001079910 LRRIQ1 EXON Missense_K705I exm1787088 12 85450909 [A/G] NM_001079910 LRRIQ1 EXON Missense_A780T exm1024871 12 85459071 [G/C] NM_001079910 LRRIQ1 EXON Missense_G808A exm1024873 12 85459134 [T/G] NM_001079910 LRRIQ1 EXON Missense_G829V exm1024875 12 85459151 [A/G] NM_001079910 LRRIQ1 EXON Missense_S835G exm1024876 12 85460533 [A/G] NM_001079910 LRRIQ1 EXON Missense_H851R exm1024877 12 85460542 [A/C] NM_001079910 LRRIQ1 EXON Missense_A854D exm1024887 12 85466723 [A/G] NM_001079910 LRRIQ1 EXON Missense_A912T exm1024901 12 85492658 [A/C] NM_001079910 LRRIQ1 EXON Missense_E1032A exm1024911 12 85497847 [T/G] NM_001079910 LRRIQ1 EXON Missense_C1092F exm1024915 12 85515476 [A/G] NM_001079910 LRRIQ1 EXON Missense_D1127N exm1024916 12 85515500 [A/G] NM_001079910 LRRIQ1 EXON Missense_A1135T exm1024917 12 85515519 [A/G] NM_001079910 LRRIQ1 EXON Missense_G1141D exm1024923 12 85517915 [A/C] NM_001079910 LRRIQ1 EXON Missense_T1209P exm1024925 12 85517924 [T/C] NM_001079910 LRRIQ1 EXON Nonsense_R1212X exm1024932 12 85517969 [A/G] NM_001079910 LRRIQ1 EXON Missense_E1227K exm1024935 12 85518072 [T/C] NM_001079910 LRRIQ1 EXON Missense_P1261L exm1024938 12 85518123 [A/G] NM_001079910 LRRIQ1 EXON Missense_S1278N exm1024948 12 85518255 [A/C] NM_001079910 LRRIQ1 EXON Missense_S1322Y exm1024951 12 85521611 [A/G] NM_001079910 LRRIQ1 EXON Missense_M1337V exm1024957 12 85521734 [A/C] NM_001079910 LRRIQ1 EXON Missense_T1378P exm1787113 12 85521741 [T/C] NM_001079910 LRRIQ1 EXON Missense_L1380S exm1024966 12 85531684 [T/G] NM_001079910 LRRIQ1 EXON Missense_I1422M exm1024974 12 85546802 [T/A] NM_001079910 LRRIQ1 EXON Missense_I1474F exm1024976 12 85546824 [A/C] NM_001079910 LRRIQ1 EXON Missense_D1481A exm1024978 12 85546862 [C/G] NM_001079910 LRRIQ1 EXON Missense_A1494P exm1024993 12 85554402 [T/C] NM_001079910 LRRIQ1 EXON Missense_R1578C exm1787131 12 85623348 [A/C] NM_001079910 LRRIQ1 EXON Synonymous_R1626R exm2221208 12 85638691 [A/G] NM_001079910 LRRIQ1 EXON Missense_K1714R exm2251228 12 85674087 [A/G] NM_006982 ALX1 EXON Synonymous_K16K exm1025024 12 85674164 [C/G] NM_006982 ALX1 EXON Missense_S42T exm1025029 12 85674221 [A/G] NM_006982 ALX1 EXON Missense_H61R exm1025030 12 85674229 [T/C] NM_006982 ALX1 EXON Missense_R64C exm1025031 12 85674230 [T/G] NM_006982 ALX1 EXON Missense_R64L exm1025035 12 85677389 [A/G] NM_006982 ALX1 EXON Missense_H89R exm1025036 12 85677479 [T/G] NM_006982 ALX1 EXON Missense_L119R exm1025045 12 85680695 [T/C] NM_006982 ALX1 EXON Missense_A199V exm2267372 12 85738907 [A/G] exm2264497 12 85833160 [A/C] exm2267373 12 86031486 [A/G] exm1025061 12 86198535 [T/G] NM_005447 RASSF9 EXON Missense_N418T exm1025073 12 86198731 [T/G] NM_005447 RASSF9 EXON Missense_K353Q exm1025074 12 86198773 [T/C] NM_005447 RASSF9 EXON Missense_I339V exm1025075 12 86198854 [T/C] NM_005447 RASSF9 EXON Missense_S312G exm1025079 12 86198935 [T/C] NM_005447 RASSF9 EXON Missense_A285T exm1025081 12 86198959 [A/G] NM_005447 RASSF9 EXON Nonsense_R277X exm1025084 12 86199114 [T/C] NM_005447 RASSF9 EXON Missense_N225S exm1025085 12 86199130 [A/G] NM_005447 RASSF9 EXON Missense_L220F exm1025086 12 86199151 [T/C] NM_005447 RASSF9 EXON Missense_K213E exm1025090 12 86199234 [A/G] NM_005447 RASSF9 EXON Missense_T185I exm1025092 12 86199291 [T/C] NM_005447 RASSF9 EXON Missense_R166Q exm1025098 12 86199336 [C/G] NM_005447 RASSF9 EXON Missense_T151S exm1025104 12 86199409 [A/G] NM_005447 RASSF9 EXON Missense_R127W exm1025119 12 86199657 [A/G] NM_005447 RASSF9 EXON Missense_T44I exm1025139 12 86272177 [A/C] NM_006183 NTS EXON Missense_L64I exm1025141 12 86272290 [T/G] NM_006183 NTS EXON Missense_M101I exm1025142 12 86272298 [T/C] NM_006183 NTS EXON Missense_I104T exm1025146 12 86276040 [A/C] NM_006183 NTS EXON Missense_N134H exm1025154 12 86373159 [T/C] NM_013244 MGAT4C EXON Missense_I449V exm1025157 12 86373221 [C/G] NM_013244 MGAT4C EXON Missense_T428S exm1025167 12 86373381 [T/C] NM_013244 MGAT4C EXON Missense_T375A exm1025170 12 86373542 [A/G] NM_013244 MGAT4C EXON Missense_T321M exm1025186 12 86373935 [T/C] NM_013244 MGAT4C EXON Missense_N190S exm1025195 12 86377300 [T/C] NM_013244 MGAT4C Silent exm1787236 12 86377390 [T/G] NM_013244 MGAT4C EXON Missense_Y69S exm2271769 12 86548197 [T/C] NM_013244 MGAT4C Silent exm2264498 12 86716229 [A/C] NM_013244 MGAT4C Silent exm2271770 12 87127849 [T/C] NM_013244 MGAT4C Silent exm2271858 12 87287786 [T/C] exm2267374 12 87723347 [A/G] exm2267375 12 87901028 [A/G] exm1025204 12 88376891 [T/G] NM_152589 C12orf50 EXON Missense_K403T exm1025216 12 88379752 [T/C] NM_152589 C12orf50 EXON Missense_Y334C exm1025218 12 88379773 [T/C] NM_152589 C12orf50 EXON Missense_R327Q exm1025219 12 88379788 [T/C] NM_152589 C12orf50 EXON Missense_R322H exm1025223 12 88380094 [T/C] NM_152589 C12orf50 EXON Missense_Q306R exm1025225 12 88380137 [A/G] NM_152589 C12orf50 EXON Missense_W292R exm1025230 12 88381660 [T/C] NM_152589 C12orf50 EXON Missense_I262V exm1025231 12 88381701 [T/C] NM_152589 C12orf50 EXON Missense_R248Q exm1025233 12 88383119 [T/G] NM_152589 C12orf50 EXON Missense_I208L exm1025236 12 88383125 [T/A] NM_152589 C12orf50 EXON Missense_R206W exm1025240 12 88388444 [T/A] NM_152589 C12orf50 EXON Missense_K186N exm1025243 12 88390168 [A/C] NM_152589 C12orf50 EXON Missense_G155V exm1025246 12 88390181 [G/C] NM_152589 C12orf50 EXON Missense_P151A exm1025247 12 88390189 [A/G] NM_152589 C12orf50 EXON Missense_L148S exm1787368 12 88390214 [T/C] NM_152589 C12orf50 EXON Missense_M140V exm1025249 12 88390262 [T/C] NM_152589 C12orf50 EXON Missense_E124K exm2267457 12 88414188 [A/G] NM_152589 C12orf50 Silent exm1025278 12 88439500 [A/G] NM_001009894 C12orf29 EXON Missense_D188G exm1025284 12 88440676 [G/C] NM_001009894 C12orf29 EXON Missense_V238L exm1787398 12 88440736 [A/G] NM_001009894 C12orf29 EXON Missense_D258N exm1025298 12 88444154 [A/C] NM_025114 CEP290 EXON Missense_D2396Y exm1025299 12 88447475 [A/C] NM_025114 CEP290 EXON Missense_Q2361H exm1025300 12 88447483 [T/G] NM_025114 CEP290 EXON Missense_I2359L exm1025304 12 88448136 [A/G] NM_025114 CEP290 EXON Missense_R2339W exm1025323 12 88454677 [A/G] NM_025114 CEP290 EXON Missense_L2151S exm1025325 12 88454728 [A/G] NM_025114 CEP290 EXON Missense_I2134T exm1025331 12 88462318 [T/C] NM_025114 CEP290 EXON Missense_D2039G exm1025339 12 88471040 [A/C] NM_025114 CEP290 EXON Nonsense_G1890X exm1025344 12 88471539 [T/C] NM_025114 CEP290 EXON Missense_E1841K exm1025345 12 88471554 [T/C] NM_025114 CEP290 EXON Missense_I1836V exm1025353 12 88472996 [T/C] NM_025114 CEP290 EXON Missense_R1746Q exm1025357 12 88474000 [A/G] NM_025114 CEP290 EXON Missense_R1729W exm1025372 12 88477682 [T/C] NM_025114 CEP290 EXON Missense_H1585R exm1025380 12 88478512 [A/T] NM_025114 CEP290 EXON Missense_I1519L exm1025387 12 88480220 [T/C] NM_025114 CEP290 EXON Missense_Q1417R exm1025388 12 88480233 [G/C] NM_025114 CEP290 EXON Missense_D1413H exm1025394 12 88481649 [T/C] NM_025114 CEP290 EXON Missense_D1368N exm1025396 12 88481664 [A/G] NM_025114 CEP290 EXON Missense_R1363W exm1025405 12 88483048 [A/G] NM_025114 CEP290 EXON Missense_R1264C exm1025410 12 88483128 [T/C] NM_025114 CEP290 EXON Missense_R1237H exm1025411 12 88483178 [A/C] NM_025114 CEP290 EXON Missense_K1220N exm1025413 12 88483204 [T/G] NM_025114 CEP290 EXON Missense_L1212M exm1025424 12 88490666 [T/C] NM_025114 CEP290 EXON Synonymous_L1034L exm1025426 12 88496626 [T/C] NM_025114 CEP290 EXON Missense_E994K exm1025430 12 88496779 [T/C] NM_025114 CEP290 EXON Missense_I943V exm1025435 12 88500552 [A/C] NM_025114 CEP290 EXON Missense_L906W exm1025436 12 88500602 [A/C] NM_025114 CEP290 EXON Missense_L889F exm1025441 12 88500847 [T/C] NM_025114 CEP290 EXON Missense_K838E exm1025443 12 88502847 [C/G] NM_025114 CEP290 EXON Missense_L827V exm1025448 12 88505040 [A/G] NM_025114 CEP290 EXON Missense_I769T exm1025453 12 88505598 [G/C] NM_025114 CEP290 EXON Missense_A697G exm1025456 12 88508258 [T/C] NM_025114 CEP290 EXON Missense_D664G exm1025460 12 88508876 [T/A] NM_025114 CEP290 EXON Missense_K636N exm1025469 12 88512301 [T/C] NM_025114 CEP290 EXON Missense_R557H exm1025476 12 88512485 [A/G] NM_025114 CEP290 EXON Missense_F520L exm1787449 12 88514945 [T/C] NM_025114 CEP290 Silent exm1025486 12 88519120 [A/C] NM_025114 CEP290 EXON Missense_I364M exm1025487 12 88519133 [T/C] NM_025114 CEP290 EXON Missense_R360Q exm1025494 12 88523488 [A/C] NM_025114 CEP290 EXON Missense_D279Y exm1025495 12 88523494 [G/C] NM_025114 CEP290 EXON Missense_E277Q exm1025501 12 88524191 [T/G] NM_025114 CEP290 EXON Missense_Q175K exm1025510 12 88530520 [T/C] NM_025114 CEP290 EXON Missense_R114H exm1025518 12 88542102 [A/G] NM_181783 TMTC3 EXON Missense_I4V exm1025521 12 88542151 [A/G] NM_181783 TMTC3 EXON Missense_Y20C exm1025527 12 88547213 [A/G] NM_181783 TMTC3 EXON Missense_K112R exm1787459 12 88547215 [G/C] NM_181783 TMTC3 EXON Missense_L113V exm1025538 12 88553923 [A/G] NM_181783 TMTC3 EXON Missense_V181M exm1025539 12 88553930 [T/G] NM_181783 TMTC3 EXON Missense_V183G exm2267376 12 88580274 [A/G] NM_181783 TMTC3 Silent exm1025569 12 88582702 [A/G] NM_181783 TMTC3 EXON Missense_M505I exm1025570 12 88584312 [A/C] NM_181783 TMTC3 EXON Missense_A540E exm1025571 12 88584357 [T/C] NM_181783 TMTC3 EXON Missense_A555V exm1025586 12 88589107 [A/G] NM_181783 TMTC3 EXON Missense_R809H exm1025587 12 88589233 [A/G] NM_181783 TMTC3 EXON Missense_G851D exm1025588 12 88589256 [A/G] NM_181783 TMTC3 EXON Missense_V859I exm-rs995030 12 88890671 [A/G] NM_003994,NM_000899 KITLG,KITLG EXON Silent,Silent exm1025601 12 88900891 [A/C] NM_003994,NM_000899 KITLG,KITLG EXON Missense_D182Y,Missense_D210Y exm1787535 12 88900894 [T/C] NM_003994,NM_000899 KITLG,KITLG EXON Missense_G181R,Missense_G209R exm1025610 12 88910180 [A/G] NM_003994,NM_000899 KITLG,KITLG EXON Missense_F151L,Missense_F151L exm1025618 12 88926250 [T/C] NM_003994,NM_000899 KITLG,KITLG EXON Missense_T54A,Missense_T54A exm1025620 12 88939591 [T/C] NM_003994,NM_000899 KITLG,KITLG EXON Missense_V23I,Missense_V23I exm-rs3782181 12 88953561 [A/C] NM_003994,NM_000899 KITLG,KITLG Silent,Silent exm-rs4474514 12 88953959 [A/G] NM_003994,NM_000899 KITLG,KITLG Silent,Silent exm2267458 12 89204842 [A/G] exm-rs12821256 12 89328335 [T/C] exm2251240 12 89490667 [A/G] exm2267378 12 89653020 [A/G] exm2260137 12 89678470 [A/G] exm1025629 12 89743140 [A/G] NM_001946,NM_022652 DUSP6,DUSP6 EXON Missense_T346M,Missense_T200M exm1025641 12 89744637 [T/C] NM_001946,NM_022652 DUSP6,DUSP6 EXON Missense_N189S,Silent exm1025643 12 89744658 [A/G] NM_001946,NM_022652 DUSP6,DUSP6 EXON Missense_S182F,Silent exm1025647 12 89744773 [A/C] NM_001946,NM_022652 DUSP6,DUSP6 EXON Missense_S144A,Silent exm1025651 12 89745477 [A/C] NM_001946,NM_022652 DUSP6,DUSP6 EXON Missense_V114L,Missense_V114L exm1025652 12 89745557 [A/G] NM_001946,NM_022652 DUSP6,DUSP6 EXON Missense_T87I,Missense_T87I exm1025653 12 89745602 [T/G] NM_001946,NM_022652 DUSP6,DUSP6 EXON Missense_P72Q,Missense_P72Q exm1025656 12 89745723 [T/C] NM_001946,NM_022652 DUSP6,DUSP6 EXON Missense_E32K,Missense_E32K exm1025663 12 89814934 [A/C] NR_037660,NM_001199777,NM_172240,NR_037659 POC1B,POC1B,POC1B,POC1B EXON Silent,Missense_S436I,Missense_S478I,Silent exm1025668 12 89815012 [T/C] NR_037660,NM_001199777,NM_172240,NR_037659 POC1B,POC1B,POC1B,POC1B EXON Silent,Missense_R410Q,Missense_R452Q,Silent exm1025670 12 89819011 [G/C] NR_037660,NM_001199777,NM_172240,NR_037659 POC1B,POC1B,POC1B,POC1B EXON Silent,Missense_S378T,Missense_S420T,Silent exm1025678 12 89853443 [A/G] NR_037660,NM_001199777,NM_172240,NR_037659 POC1B,POC1B,POC1B,POC1B EXON Silent,Missense_M320T,Missense_M362T,Silent exm1025687 12 89864139 [A/G] NR_037660,NM_001199777,NM_172240,NR_037659 POC1B,POC1B,POC1B,POC1B EXON Silent,Missense_T228M,Missense_T270M,Silent exm1025692 12 89864251 [A/G] NR_037660,NM_001199777,NM_172240,NR_037659 POC1B,POC1B,POC1B,POC1B EXON Silent,Missense_C191R,Missense_C233R,Silent exm1787630 12 89864260 [T/C] NR_037660,NM_001199777,NM_172240,NR_037659 POC1B,POC1B,POC1B,POC1B EXON Silent,Missense_G188R,Missense_G230R,Silent exm2251242 12 89864264 [A/G] NR_037660,NM_001199777,NM_172240,NR_037659 POC1B,POC1B,POC1B,POC1B EXON Silent,Synonymous_S186S,Synonymous_S228S,Silent exm1025694 12 89865394 [C/G] NR_037660,NM_001199777,NM_172240,NR_037659 POC1B,POC1B,POC1B,POC1B EXON Silent,Missense_Q183E,Missense_Q225E,Silent exm1025702 12 89885762 [A/G] NR_037660,NM_001199777,NM_172240,NR_037659 POC1B,POC1B,POC1B,POC1B EXON Silent,Missense_R93C,Missense_R135C,Silent exm1025705 12 89885848 [T/C] NR_037660,NM_001199777,NM_172240,NR_037659 POC1B,POC1B,POC1B,POC1B EXON Silent,Missense_R64Q,Missense_R106Q,Silent exm1025710 12 89891024 [T/C] NR_037660,NM_001199777,NM_172240,NR_037659 POC1B,POC1B,POC1B,POC1B EXON Silent,Missense_V24M,Missense_V66M,Silent exm1025711 12 89891026 [G/C] NR_037660,NM_001199777,NM_172240,NR_037659 POC1B,POC1B,POC1B,POC1B EXON Silent,Missense_S23T,Missense_S65T,Silent exm1025720 12 89916666 [A/G] NR_037660,NM_001199777,NM_172240,NR_037659,NM_001199782,NM_001199781,NM_003774 POC1B,POC1B,POC1B,POC1B,POC1B-GALNT4,POC1B-GALNT4,GALNT4 EXON Silent,Silent,Silent,Silent,Missense_P382L,Missense_P551L,Missense_P554L exm1025722 12 89916781 [T/G] NR_037660,NM_001199777,NM_172240,NR_037659,NM_001199782,NM_001199781,NM_003774 POC1B,POC1B,POC1B,POC1B,POC1B-GALNT4,POC1B-GALNT4,GALNT4 EXON Silent,Silent,Silent,Silent,Missense_Q344K,Missense_Q513K,Missense_Q516K exm1025724 12 89916811 [T/C] NR_037660,NM_001199777,NM_172240,NR_037659,NM_001199782,NM_001199781,NM_003774 POC1B,POC1B,POC1B,POC1B,POC1B-GALNT4,POC1B-GALNT4,GALNT4 EXON Silent,Silent,Silent,Silent,Missense_V334I,Missense_V503I,Missense_V506I exm1025727 12 89916895 [A/G] NR_037660,NM_001199777,NM_172240,NR_037659,NM_001199782,NM_001199781,NM_003774 POC1B,POC1B,POC1B,POC1B,POC1B-GALNT4,POC1B-GALNT4,GALNT4 EXON Silent,Silent,Silent,Silent,Missense_H306Y,Missense_H475Y,Missense_H478Y exm1025743 12 89917230 [T/C] NR_037660,NM_001199777,NM_172240,NR_037659,NM_001199782,NM_001199781,NM_003774 POC1B,POC1B,POC1B,POC1B,POC1B-GALNT4,POC1B-GALNT4,GALNT4 EXON Silent,Silent,Silent,Silent,Missense_K194R,Missense_K363R,Missense_K366R exm1025751 12 89917365 [T/A] NR_037660,NM_001199777,NM_172240,NR_037659,NM_001199782,NM_001199781,NM_003774 POC1B,POC1B,POC1B,POC1B,POC1B-GALNT4,POC1B-GALNT4,GALNT4 EXON Silent,Silent,Silent,Silent,Missense_F149Y,Missense_F318Y,Missense_F321Y exm1025755 12 89917437 [T/C] NR_037660,NM_001199777,NM_172240,NR_037659,NM_001199782,NM_001199781,NM_003774 POC1B,POC1B,POC1B,POC1B,POC1B-GALNT4,POC1B-GALNT4,GALNT4 EXON Silent,Silent,Silent,Silent,Missense_R125Q,Missense_R294Q,Missense_R297Q exm1025757 12 89917518 [A/G] NR_037660,NM_001199777,NM_172240,NR_037659,NM_001199782,NM_001199781,NM_003774 POC1B,POC1B,POC1B,POC1B,POC1B-GALNT4,POC1B-GALNT4,GALNT4 EXON Silent,Silent,Silent,Silent,Silent,Missense_I267T,Missense_I270T exm1025758 12 89917541 [T/A] NR_037660,NM_001199777,NM_172240,NR_037659,NM_001199782,NM_001199781,NM_003774 POC1B,POC1B,POC1B,POC1B,POC1B-GALNT4,POC1B-GALNT4,GALNT4 EXON Silent,Silent,Silent,Silent,Silent,Missense_N259K,Missense_N262K exm1025760 12 89917626 [T/G] NR_037660,NM_001199777,NM_172240,NR_037659,NM_001199782,NM_001199781,NM_003774 POC1B,POC1B,POC1B,POC1B,POC1B-GALNT4,POC1B-GALNT4,GALNT4 EXON Silent,Silent,Silent,Silent,Silent,Missense_S231Y,Missense_S234Y exm1025765 12 89917741 [C/G] NR_037660,NM_001199777,NM_172240,NR_037659,NM_001199782,NM_001199781,NM_003774 POC1B,POC1B,POC1B,POC1B,POC1B-GALNT4,POC1B-GALNT4,GALNT4 EXON Silent,Silent,Silent,Silent,Silent,Missense_V193L,Missense_V196L exm1025780 12 89918265 [A/G] NR_037660,NM_001199777,NM_172240,NR_037659,NM_001199782,NM_001199781,NM_003774 POC1B,POC1B,POC1B,POC1B,POC1B-GALNT4,POC1B-GALNT4,GALNT4 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_A21V exm1025781 12 89918266 [T/C] NR_037660,NM_001199777,NM_172240,NR_037659,NM_001199782,NM_001199781,NM_003774 POC1B,POC1B,POC1B,POC1B,POC1B-GALNT4,POC1B-GALNT4,GALNT4 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_A21T exm1025790 12 89919703 [A/G] NM_172240,NR_037659,NM_001199782,NM_001199781 POC1B,POC1B,POC1B-GALNT4,POC1B-GALNT4 EXON Silent,Silent,Missense_P77L,Silent exm1025792 12 89984882 [T/G] NM_001001323,NM_001682 ATP2B1,ATP2B1 EXON Silent,Missense_P1181H exm2221233 12 89992406 [A/C] NM_001001323,NM_001682 ATP2B1,ATP2B1 EXON Missense_V1156L,Silent exm1025807 12 89995138 [T/C] NM_001001323,NM_001682 ATP2B1,ATP2B1 EXON Missense_I1045V,Missense_I1045V exm-rs2681472 12 90008959 [A/G] NM_001001323,NM_001682 ATP2B1,ATP2B1 Silent,Silent exm2251243 12 90010713 [A/G] NM_001001323,NM_001682 ATP2B1,ATP2B1 EXON Synonymous_L645L,Synonymous_L645L exm-rs2681492 12 90013089 [T/C] NM_001001323,NM_001682 ATP2B1,ATP2B1 Silent,Silent exm1025839 12 90013932 [T/C] NM_001001323,NM_001682 ATP2B1,ATP2B1 EXON Missense_R558Q,Missense_R558Q exm1025869 12 90049575 [A/G] NM_001001323,NM_001682 ATP2B1,ATP2B1 EXON Missense_T30M,Missense_T30M exm-rs17249754 12 90060586 [A/G] exm-rs17783015 12 90231386 [T/C] exm2267379 12 90390724 [A/G] exm-rs10858945 12 90443482 [A/G] exm2267460 12 90826178 [A/G] exm-rs1847461 12 91077508 [A/G] exm2267380 12 91277503 [A/G] exm1025882 12 91347378 [T/C] NM_152638 CCER1 EXON Missense_C381Y exm1025889 12 91347643 [T/C] NM_152638 CCER1 EXON Missense_E293K exm1025892 12 91347726 [A/G] NM_152638 CCER1 EXON Missense_P265L exm1025905 12 91347999 [T/C] NM_152638 CCER1 EXON Missense_K174R exm1025927 12 91357938 [G/C] NM_004950 EPYC EXON Missense_V322L exm1025933 12 91358050 [G/C] NM_004950 EPYC EXON Missense_L284F exm1025934 12 91358072 [A/G] NM_004950 EPYC EXON Missense_T277M exm1025940 12 91365623 [T/C] NM_004950 EPYC EXON Missense_S219N exm1025947 12 91365717 [A/G] NM_004950 EPYC EXON Nonsense_R188X exm1025949 12 91365726 [G/C] NM_004950 EPYC EXON Missense_D185H exm1025956 12 91366649 [G/C] NM_004950 EPYC EXON Missense_S150C exm1025962 12 91366756 [C/G] NM_004950 EPYC EXON Missense_D114E exm1025964 12 91371957 [T/C] NM_004950 EPYC EXON Missense_E83G exm2260140 12 91380633 [A/G] NM_004950 EPYC Silent exm1025967 12 91396203 [T/G] NM_004950 EPYC EXON Missense_E47A exm1025970 12 91396296 [T/G] NM_004950 EPYC EXON Missense_A16D exm1025971 12 91396297 [T/C] NM_004950 EPYC EXON Missense_A16T exm1025979 12 91445244 [T/C] NM_007035 KERA EXON Missense_R313Q exm1025987 12 91449319 [T/C] NM_007035 KERA EXON Missense_N247S exm1025997 12 91449515 [T/C] NM_007035 KERA EXON Missense_A182T exm1787925 12 91449706 [T/C] NM_007035 KERA EXON Missense_S118N exm1026029 12 91498031 [A/G] NM_002345 LUM EXON Missense_R310C exm1026036 12 91502161 [A/G] NM_002345 LUM EXON Missense_L199P exm1026051 12 91502722 [A/G] NM_002345 LUM EXON Missense_L12S exm1026056 12 91539870 [T/C] NM_133503,NM_133506,NM_133507,NM_133505,NM_001920,NM_133504 DCN,DCN,DCN,DCN,DCN,DCN EXON Missense_V349M,Missense_V162M,Silent,Missense_V202M,Missense_V349M,Missense_V240M exm1026060 12 91539998 [A/G] NM_133503,NM_133506,NM_133507,NM_133505,NM_001920,NM_133504 DCN,DCN,DCN,DCN,DCN,DCN EXON Missense_V306A,Missense_V119A,Silent,Missense_V159A,Missense_V306A,Missense_V197A exm1026066 12 91545513 [A/G] NM_133503,NM_133506,NM_133507,NM_133505,NM_001920,NM_133504 DCN,DCN,DCN,DCN,DCN,DCN EXON Missense_T268M,Silent,Silent,Missense_T121M,Missense_T268M,Missense_T159M exm1026075 12 91550950 [G/C] NM_133503,NM_133506,NM_133507,NM_133505,NM_001920,NM_133504 DCN,DCN,DCN,DCN,DCN,DCN EXON Missense_P185R,Silent,Silent,Silent,Missense_P185R,Missense_P76R exm1026078 12 91552082 [A/T] NM_133503,NM_133506,NM_133507,NM_133505,NM_001920,NM_133504 DCN,DCN,DCN,DCN,DCN,DCN EXON Missense_I177F,Silent,Silent,Silent,Missense_I177F,Silent exm1026082 12 91552144 [T/C] NM_133503,NM_133506,NM_133507,NM_133505,NM_001920,NM_133504 DCN,DCN,DCN,DCN,DCN,DCN EXON Missense_R156H,Silent,Silent,Silent,Missense_R156H,Silent exm1026084 12 91552187 [T/C] NM_133503,NM_133506,NM_133507,NM_133505,NM_001920,NM_133504 DCN,DCN,DCN,DCN,DCN,DCN EXON Missense_K142E,Silent,Silent,Silent,Missense_K142E,Silent exm1787961 12 91558381 [T/C] NM_133503,NM_133506,NM_133507,NM_133505,NM_001920,NM_133504 DCN,DCN,DCN,DCN,DCN,DCN Silent,Silent,Silent,Silent,Silent,Silent exm1026093 12 91572120 [T/C] NM_133503,NM_133506,NM_133507,NM_133505,NM_001920,NM_133504 DCN,DCN,DCN,DCN,DCN,DCN EXON Synonymous_L70L,Synonymous_L70L,Synonymous_L70L,Synonymous_L70L,Synonymous_L70L,Synonymous_L70L exm-rs10777317 12 91980374 [T/C] exm2251252 12 91996056 [T/G] exm-rs10777332 12 92164302 [T/C] exm2271859 12 92214658 [T/G] exm1026104 12 92537956 [T/C] NM_001731 BTG1 EXON Missense_N139S exm2251254 12 92538189 [T/C] NM_001731 BTG1 EXON Synonymous_P61P exm2271773 12 92772307 [T/C] exm1026156 12 92818482 [T/C] NM_001025232,NR_027932,NR_027933,NM_001025233 CLLU1OS,CLLU1,CLLU1,CLLU1 EXON Silent,Silent,Silent,Missense_S9F exm1026157 12 92818487 [A/G] NM_001025232,NR_027932,NR_027933,NM_001025233 CLLU1OS,CLLU1,CLLU1,CLLU1 EXON Silent,Silent,Silent,Missense_I11V exm1026159 12 92818497 [G/C] NM_001025232,NR_027932,NR_027933,NM_001025233 CLLU1OS,CLLU1,CLLU1,CLLU1 EXON Silent,Silent,Silent,Missense_P14R exm1026169 12 92818673 [A/G] NM_001025232,NR_027932,NR_027933,NM_001025233 CLLU1OS,CLLU1,CLLU1,CLLU1 EXON Silent,Silent,Silent,Missense_I73V exm1026171 12 92818706 [T/C] NM_001025232,NR_027932,NR_027933,NM_001025233 CLLU1OS,CLLU1,CLLU1,CLLU1 EXON Silent,Silent,Silent,Missense_Y84H exm1026175 12 92818751 [A/G] NM_001025232,NR_027932,NR_027933,NM_001025233 CLLU1OS,CLLU1,CLLU1,CLLU1 EXON Silent,Silent,Silent,Missense_K99E exm1026177 12 92818772 [A/C] NM_001025232,NR_027932,NR_027933,NM_001025233 CLLU1OS,CLLU1,CLLU1,CLLU1 EXON Silent,Silent,Silent,Missense_T106P exm-rs10219495 12 92890520 [T/C] exm2267382 12 93011711 [A/G] exm-rs7316876 12 93092717 [T/C] exm1026191 12 93100466 [G/C] NM_001037671,NM_001178097 C12orf74,C12orf74 EXON Missense_P20R,Missense_P20R exm1026192 12 93100481 [T/G] NM_001037671,NM_001178097 C12orf74,C12orf74 EXON Missense_R25M,Missense_R25M exm1026193 12 93100493 [A/G] NM_001037671,NM_001178097 C12orf74,C12orf74 EXON Missense_K29R,Missense_K29R exm1026214 12 93100859 [A/G] NM_001037671,NM_001178097 C12orf74,C12orf74 EXON Missense_R151Q,Missense_R151Q exm1026218 12 93100895 [T/A] NM_001037671,NM_001178097 C12orf74,C12orf74 EXON Missense_L163Q,Missense_L163Q exm1026219 12 93100897 [T/C] NM_001037671,NM_001178097 C12orf74,C12orf74 EXON Nonsense_R164X,Nonsense_R164X exm1026223 12 93101475 [A/G] NM_001037671,NM_001178097 C12orf74,C12orf74 EXON Missense_C186Y,Silent exm1026234 12 93134648 [A/G] NM_001004330 PLEKHG7 EXON Missense_R8K exm1026235 12 93134677 [A/G] NM_001004330 PLEKHG7 EXON Missense_D18N exm1026238 12 93135267 [T/A] NM_001004330 PLEKHG7 EXON Missense_T34S exm1026242 12 93135316 [T/C] NM_001004330 PLEKHG7 EXON Missense_V50A exm1026250 12 93139330 [C/G] NM_001004330 PLEKHG7 EXON Missense_S93T exm1026251 12 93139348 [A/G] NM_001004330 PLEKHG7 EXON Missense_D99G exm1026261 12 93147942 [A/G] NM_001004330 PLEKHG7 EXON Missense_R131Q exm1788130 12 93148020 [T/A] NM_001004330 PLEKHG7 EXON Missense_E157V exm1026270 12 93150102 [T/C] NM_001004330 PLEKHG7 EXON Missense_M212T exm1026276 12 93155557 [T/G] NM_001004330 PLEKHG7 EXON Missense_F244V exm1026282 12 93157871 [A/C] NM_001004330 PLEKHG7 EXON Missense_Q279K exm1026283 12 93157872 [A/G] NM_001004330 PLEKHG7 EXON Missense_Q279R exm1026288 12 93162802 [A/C] NM_001004330 PLEKHG7 EXON Missense_R326S exm1026296 12 93169795 [A/G] NM_003566 EEA1 EXON Nonsense_Q1410X exm1026308 12 93171759 [A/G] NM_003566 EEA1 EXON Missense_T1284M exm1026309 12 93171826 [A/G] NM_003566 EEA1 EXON Missense_R1262W exm1026313 12 93171949 [T/C] NM_003566 EEA1 EXON Missense_E1221K exm1026317 12 93172994 [A/G] NM_003566 EEA1 EXON Missense_A1184V exm2251257 12 93173008 [T/C] NM_003566 EEA1 EXON Synonymous_A1179A exm1026318 12 93173008 [T/C] NM_003566 EEA1 EXON Synonymous_A1179A exm1026320 12 93174064 [T/G] NM_003566 EEA1 EXON Missense_S1154R exm1026323 12 93174109 [T/C] NM_003566 EEA1 EXON Missense_E1139K exm1026324 12 93174175 [T/C] NM_003566 EEA1 EXON Missense_K1117E exm1026326 12 93175790 [A/G] NM_003566 EEA1 EXON Missense_S1091L exm1026332 12 93181707 [T/C] NM_003566 EEA1 EXON Missense_K1029R exm1026333 12 93181731 [T/C] NM_003566 EEA1 EXON Missense_Y1021C exm1026340 12 93181768 [A/C] NM_003566 EEA1 EXON Missense_A1009S exm1026344 12 93192813 [A/G] NM_003566 EEA1 EXON Missense_I941T exm1026347 12 93195376 [T/C] NM_003566 EEA1 EXON Synonymous_E924E exm1026355 12 93196194 [T/C] NM_003566 EEA1 EXON Missense_A886T exm1026359 12 93196292 [A/G] NM_003566 EEA1 EXON Missense_T853I exm1026360 12 93196332 [T/C] NM_003566 EEA1 EXON Missense_E840K exm1026364 12 93196422 [T/G] NM_003566 EEA1 EXON Missense_K810Q exm1026385 12 93210040 [T/C] NM_003566 EEA1 EXON Missense_S622N exm1026400 12 93219948 [T/G] NM_003566 EEA1 EXON Missense_E506D exm1026406 12 93226288 [T/C] NM_003566 EEA1 EXON Synonymous_Q418Q exm1026407 12 93226290 [T/G] NM_003566 EEA1 EXON Missense_Q418K exm1026426 12 93244948 [T/C] NM_003566 EEA1 EXON Missense_R246Q exm1026427 12 93245012 [T/C] NM_003566 EEA1 EXON Missense_V225M exm1026429 12 93245979 [A/G] NM_003566 EEA1 EXON Missense_T205I exm1026435 12 93251098 [C/G] NM_003566 EEA1 EXON Missense_E107Q exm2264499 12 93355884 [A/C] exm-rs1836127 12 93550301 [T/G] NR_040096 LOC643339 Silent exm2271774 12 93751933 [T/C] NR_040096 LOC643339 Silent exm1026462 12 93788475 [A/G] NM_199040,NM_019094,NR_002212 NUDT4,NUDT4,NUDT4P1 EXON Missense_V64M,Missense_V64M,Silent exm1026472 12 93793064 [A/G] NM_199040,NM_019094,NR_002212 NUDT4,NUDT4,NUDT4P1 EXON Missense_N152S,Missense_N151S,Silent exm2271775 12 93861473 [T/G] NM_014050,NM_172177,NR_038161,NR_038159,NR_038160 MRPL42,MRPL42,MRPL42,MRPL42,MRPL42 Silent,Silent,Silent,Silent,Silent exm1788318 12 93870771 [T/C] NM_014050,NM_172177,NR_038161,NR_038159,NR_038160 MRPL42,MRPL42,MRPL42,MRPL42,MRPL42 EXON Missense_P38S,Missense_P38S,Silent,Silent,Silent exm1026511 12 93873189 [G/C] NM_014050,NM_172177,NR_038161,NR_038159,NR_038160 MRPL42,MRPL42,MRPL42,MRPL42,MRPL42 EXON Missense_D54H,Missense_D54H,Silent,Silent,Silent exm1788327 12 93881417 [T/C] NM_014050,NM_172177,NR_038161,NR_038159,NR_038160 MRPL42,MRPL42,MRPL42,MRPL42,MRPL42 EXON Missense_R122C,Missense_R122C,Silent,Silent,Silent exm1026517 12 93881430 [T/A] NM_014050,NM_172177,NR_038161,NR_038159,NR_038160 MRPL42,MRPL42,MRPL42,MRPL42,MRPL42 EXON Missense_H126L,Missense_H126L,Silent,Silent,Silent exm1026524 12 93966693 [A/G] NM_003877,NM_001270467,NM_001270468,NM_001270470,NM_001270469,NM_001270471 SOCS2,SOCS2,SOCS2,SOCS2,SOCS2,SOCS2 EXON Missense_E7G,Missense_E7G,Missense_E7G,Missense_E7G,Missense_E7G,Missense_E7G exm-rs3825199 12 93976954 [A/G] exm2260144 12 94010187 [A/G] exm1026549 12 94072653 [A/G] NM_003805 CRADD EXON Missense_I35V exm1026550 12 94072660 [T/C] NM_003805 CRADD EXON Missense_T37M exm1788356 12 94072680 [A/C] NM_003805 CRADD EXON Missense_I44L exm1026556 12 94072701 [A/C] NM_003805 CRADD EXON Missense_L51I exm2251261 12 94243853 [T/C] NM_003805 CRADD EXON Synonymous_L136L exm1026574 12 94243956 [A/G] NM_003805 CRADD EXON Missense_R170H exm1026578 12 94244001 [A/G] NM_003805 CRADD EXON Missense_R185Q exm1026600 12 94543526 [G/C] NM_005761 PLXNC1 EXON Missense_G260A exm1026610 12 94563013 [A/G] NM_005761 PLXNC1 EXON Missense_V383M exm1026617 12 94575268 [A/G] NM_005761 PLXNC1 EXON Missense_Y417C exm1788386 12 94575333 [A/G] NM_005761 PLXNC1 EXON Missense_I439V exm2271776 12 94578934 [T/C] NM_005761 PLXNC1 Silent exm1026624 12 94603366 [A/G] NM_005761 PLXNC1 EXON Synonymous_R480R exm1026625 12 94603406 [G/C] NM_005761 PLXNC1 EXON Missense_E494Q exm1026638 12 94613864 [A/T] NM_005761 PLXNC1 EXON Missense_R543W exm1026640 12 94613883 [A/G] NM_005761 PLXNC1 EXON Missense_K549R exm1026651 12 94618069 [A/G] NM_005761 PLXNC1 EXON Missense_T590A exm1026657 12 94620432 [T/G] NM_005761 PLXNC1 EXON Missense_R614S exm1026689 12 94642175 [T/C] NM_005761 PLXNC1 EXON Missense_S922F exm1026701 12 94648663 [T/C] NM_005761 PLXNC1 EXON Synonymous_D994D exm1026714 12 94654548 [T/C] NM_005761 PLXNC1 EXON Missense_R1128C exm1026732 12 94673299 [T/C] NM_005761,NR_037687 PLXNC1,PLXNC1 EXON Missense_C1217R,Silent exm1026735 12 94676082 [A/G] NM_005761,NR_037687 PLXNC1,PLXNC1 EXON Missense_M1262V,Silent exm1026749 12 94692478 [A/T] NM_005761,NR_037687 PLXNC1,PLXNC1 EXON Missense_F1382Y,Silent exm1026777 12 94702659 [T/C] NM_016122,NM_001042399 CCDC41,CCDC41 EXON Missense_R679H,Missense_R679H exm1026792 12 94725549 [T/C] NM_016122,NM_001042399 CCDC41,CCDC41 EXON Missense_R545H,Missense_R545H exm1026797 12 94727270 [A/C] NM_016122,NM_001042399 CCDC41,CCDC41 EXON Missense_L522R,Missense_L522R exm1026809 12 94729418 [T/C] NM_016122,NM_001042399 CCDC41,CCDC41 EXON Missense_V456M,Missense_V456M exm1026814 12 94761622 [A/G] NM_016122,NM_001042399 CCDC41,CCDC41 EXON Missense_R431W,Missense_R431W exm1026815 12 94761633 [T/C] NM_016122,NM_001042399 CCDC41,CCDC41 EXON Missense_E427G,Missense_E427G exm1026817 12 94761681 [A/G] NM_016122,NM_001042399 CCDC41,CCDC41 EXON Missense_M411T,Missense_M411T exm1026822 12 94761875 [T/C] NM_016122,NM_001042399 CCDC41,CCDC41 EXON Missense_K384R,Missense_K384R exm1026823 12 94761906 [A/G] NM_016122,NM_001042399 CCDC41,CCDC41 EXON Missense_R374C,Missense_R374C exm1026824 12 94761908 [A/T] NM_016122,NM_001042399 CCDC41,CCDC41 EXON Missense_D373V,Missense_D373V exm1026827 12 94763737 [T/G] NM_016122,NM_001042399 CCDC41,CCDC41 EXON Missense_L337I,Missense_L337I exm1026833 12 94769760 [A/G] NM_016122,NM_001042399 CCDC41,CCDC41 EXON Missense_R279C,Missense_R279C exm1026834 12 94769769 [A/G] NM_016122,NM_001042399 CCDC41,CCDC41 EXON Missense_R276W,Missense_R276W exm1026843 12 94772742 [T/C] NM_016122,NM_001042399 CCDC41,CCDC41 EXON Missense_R209Q,Missense_R209Q exm1026845 12 94772764 [G/C] NM_016122,NM_001042399 CCDC41,CCDC41 EXON Missense_D202H,Missense_D202H exm1788494 12 94772784 [A/C] NM_016122,NM_001042399 CCDC41,CCDC41 EXON Missense_R195L,Missense_R195L exm1026852 12 94794738 [A/G] NM_016122,NM_001042399 CCDC41,CCDC41 EXON Missense_A146V,Missense_A146V exm1026861 12 94805540 [T/A] NM_016122,NM_001042399 CCDC41,CCDC41 EXON Missense_L86H,Missense_L86H exm1788502 12 94806151 [T/C] NM_016122,NM_001042399 CCDC41,CCDC41 EXON Missense_R39K,Missense_R39K exm1026869 12 94806191 [T/C] NM_016122,NM_001042399 CCDC41,CCDC41 EXON Missense_G26S,Missense_G26S exm1026878 12 94965347 [A/G] NM_020698 TMCC3 EXON Missense_A433V exm1026882 12 94965450 [A/C] NM_020698 TMCC3 EXON Missense_A399S exm1026883 12 94965467 [T/C] NM_020698 TMCC3 EXON Missense_H393R exm1026884 12 94965488 [T/C] NM_020698 TMCC3 EXON Missense_R386H exm1026900 12 94975531 [T/C] NM_020698 TMCC3 EXON Missense_A288T exm1026912 12 94975791 [T/C] NM_020698 TMCC3 EXON Missense_N201S exm1026914 12 94975816 [A/G] NM_020698 TMCC3 EXON Missense_L193F exm1026916 12 94975829 [T/C] NM_020698 TMCC3 EXON Missense_M188I exm1026917 12 94975843 [T/C] NM_020698 TMCC3 EXON Missense_S184G exm1026918 12 94975854 [T/C] NM_020698 TMCC3 EXON Missense_C180Y exm1026921 12 94975870 [A/G] NM_020698 TMCC3 EXON Nonsense_R175X exm2221261 12 94975900 [A/G] NM_020698 TMCC3 EXON Missense_R165C exm1026926 12 94975972 [T/C] NM_020698 TMCC3 EXON Missense_R141G exm1026933 12 94976071 [T/C] NM_020698 TMCC3 EXON Missense_A108T exm1026937 12 94976125 [T/C] NM_020698 TMCC3 EXON Missense_D90N exm1026940 12 94976130 [A/G] NM_020698 TMCC3 EXON Missense_S88L exm1026947 12 94976269 [G/C] NM_020698 TMCC3 EXON Missense_R42G exm2271860 12 95002363 [T/C] NM_020698 TMCC3 Silent exm2267383 12 95301653 [A/G] exm1026959 12 95365376 [A/G] NM_018838,NM_001258338 NDUFA12,NDUFA12 EXON Missense_M93T,Missense_X64R exm1026962 12 95388024 [T/C] NM_018838,NM_001258338 NDUFA12,NDUFA12 EXON Missense_R60Q,Silent exm2221262 12 95397438 [C/G] NM_018838,NM_001258338 NDUFA12,NDUFA12 EXON Missense_L7V,Missense_L7V exm1026997 12 95442924 [A/G] NM_003297,NM_001127362,NM_001032287 NR2C1,NR2C1,NR2C1 EXON Missense_H351Y,Missense_H351Y,Missense_H351Y exm1027000 12 95443002 [T/C] NM_003297,NM_001127362,NM_001032287 NR2C1,NR2C1,NR2C1 EXON Missense_D325N,Missense_D325N,Missense_D325N exm1027007 12 95451388 [T/C] NM_003297,NM_001127362,NM_001032287 NR2C1,NR2C1,NR2C1 EXON Missense_M242V,Missense_M242V,Missense_M242V exm1027010 12 95451415 [T/C] NM_003297,NM_001127362,NM_001032287 NR2C1,NR2C1,NR2C1 EXON Missense_T233A,Missense_T233A,Missense_T233A exm1788597 12 95456367 [T/C] NM_003297,NM_001127362,NM_001032287 NR2C1,NR2C1,NR2C1 EXON Missense_K68E,Missense_K68E,Missense_K68E exm1027030 12 95456418 [T/C] NM_003297,NM_001127362,NM_001032287 NR2C1,NR2C1,NR2C1 EXON Missense_G51S,Missense_G51S,Missense_G51S exm1027033 12 95456460 [A/G] NM_003297,NM_001127362,NM_001032287 NR2C1,NR2C1,NR2C1 EXON Missense_H37Y,Missense_H37Y,Missense_H37Y exm1027038 12 95461149 [T/C] NM_003297,NM_001127362,NM_001032287 NR2C1,NR2C1,NR2C1 EXON Missense_I4M,Missense_I4M,Missense_I4M exm1027045 12 95478283 [A/G] NM_018351 FGD6 EXON Missense_S1416L exm1027048 12 95478353 [T/C] NM_018351 FGD6 EXON Missense_E1393K exm1027067 12 95488416 [C/G] NM_018351 FGD6 EXON Missense_E1184D exm1027078 12 95502286 [T/C] NM_018351 FGD6 EXON Missense_K1062R exm1027087 12 95528593 [A/G] NM_018351 FGD6 EXON Missense_R1002C exm1027103 12 95546739 [A/G] NM_018351 FGD6 EXON Missense_H873Y exm1027106 12 95566414 [A/T] NM_018351 FGD6 EXON Missense_S850T exm1027113 12 95602704 [T/C] NM_018351 FGD6 EXON Missense_A786T exm1027121 12 95602794 [T/C] NM_018351 FGD6 EXON Missense_E756K exm1027122 12 95602803 [A/G] NM_018351 FGD6 EXON Missense_H753Y exm1027127 12 95602872 [C/G] NM_018351 FGD6 EXON Missense_E730Q exm1027136 12 95603097 [T/C] NM_018351 FGD6 EXON Missense_G655R exm1027142 12 95603246 [A/G] NM_018351 FGD6 EXON Missense_S605L exm1027149 12 95603382 [A/G] NM_018351 FGD6 EXON Missense_R560W exm1027151 12 95603417 [T/A] NM_018351 FGD6 EXON Missense_N548I exm1788639 12 95604074 [T/C] NM_018351 FGD6 EXON Missense_K329R exm1027173 12 95604081 [A/G] NM_018351 FGD6 EXON Missense_R327C exm1027181 12 95604270 [T/C] NM_018351 FGD6 EXON Missense_N264D exm1027183 12 95604290 [T/C] NM_018351 FGD6 EXON Missense_Q257R exm1027187 12 95604342 [T/C] NM_018351 FGD6 EXON Missense_S240G exm1027188 12 95604377 [T/G] NM_018351 FGD6 EXON Missense_S228Y exm1027191 12 95604404 [T/C] NM_018351 FGD6 EXON Missense_R219K exm1027197 12 95604467 [T/C] NM_018351 FGD6 EXON Missense_Q198R exm1027199 12 95604528 [T/C] NM_018351 FGD6 EXON Missense_V178I exm2251265 12 95604850 [T/C] NM_018351 FGD6 EXON Synonymous_S70S exm1027220 12 95604927 [T/C] NM_018351 FGD6 EXON Missense_T45A exm1027224 12 95605039 [T/C] NM_018351 FGD6 EXON Missense_I7M exm1788650 12 95645827 [C/G] NM_017599,NR_038241,NR_038242 VEZT,VEZT,VEZT EXON Missense_P50A,Silent,Silent exm1027236 12 95650972 [T/C] NM_017599,NR_038241,NR_038242 VEZT,VEZT,VEZT EXON Missense_F72S,Silent,Silent exm1027238 12 95656703 [T/G] NM_017599,NR_038241,NR_038242 VEZT,VEZT,VEZT EXON Missense_S94A,Silent,Silent exm1027239 12 95656704 [T/C] NM_017599,NR_038241,NR_038242 VEZT,VEZT,VEZT EXON Missense_S94L,Silent,Silent exm1027243 12 95656775 [A/G] NM_017599,NR_038241,NR_038242 VEZT,VEZT,VEZT EXON Missense_S118G,Silent,Silent exm1027245 12 95660182 [A/G] NM_017599,NR_038241,NR_038242 VEZT,VEZT,VEZT EXON Missense_T162A,Silent,Silent exm1027247 12 95660320 [A/G] NM_017599,NR_038241,NR_038242 VEZT,VEZT,VEZT EXON Missense_A208T,Silent,Silent exm1027249 12 95660360 [G/C] NM_017599,NR_038241,NR_038242 VEZT,VEZT,VEZT EXON Missense_A221G,Silent,Silent exm1027250 12 95660366 [A/G] NM_017599,NR_038241,NR_038242 VEZT,VEZT,VEZT EXON Missense_R223H,Silent,Silent exm2251266 12 95660382 [T/C] NM_017599,NR_038241,NR_038242 VEZT,VEZT,VEZT EXON Synonymous_T228T,Silent,Silent exm1027253 12 95660382 [T/C] NM_017599,NR_038241,NR_038242 VEZT,VEZT,VEZT EXON Synonymous_T228T,Silent,Silent exm1027262 12 95676162 [A/G] NM_017599,NR_038241,NR_038242 VEZT,VEZT,VEZT EXON Missense_N357S,Silent,Silent exm1027264 12 95676206 [T/C] NM_017599,NR_038241,NR_038242 VEZT,VEZT,VEZT EXON Missense_R372C,Silent,Silent exm1027269 12 95676290 [T/C] NM_017599,NR_038241,NR_038242 VEZT,VEZT,VEZT EXON Missense_R400W,Silent,Silent exm1027270 12 95681492 [A/C] NM_017599,NR_038241,NR_038242 VEZT,VEZT,VEZT EXON Missense_Q461K,Silent,Silent exm1027273 12 95681539 [T/G] NM_017599,NR_038241,NR_038242 VEZT,VEZT,VEZT EXON Missense_K476N,Silent,Silent exm1027279 12 95681597 [A/G] NM_017599,NR_038241,NR_038242 VEZT,VEZT,VEZT EXON Missense_V496I,Silent,Silent exm1027287 12 95689924 [A/G] NM_017599,NR_038241,NR_038242 VEZT,VEZT,VEZT EXON Missense_R574H,Silent,Silent exm1027290 12 95690029 [A/G] NM_017599,NR_038241,NR_038242 VEZT,VEZT,VEZT EXON Missense_D609G,Silent,Silent exm1027296 12 95694111 [T/G] NM_017599,NR_038241,NR_038242 VEZT,VEZT,VEZT EXON Missense_S668A,Silent,Silent exm1027303 12 95694291 [T/C] NM_017599,NR_038241,NR_038242 VEZT,VEZT,VEZT EXON Missense_R728W,Silent,Silent exm1027305 12 95694306 [T/C] NM_017599,NR_038241,NR_038242 VEZT,VEZT,VEZT EXON Missense_P733S,Silent,Silent exm1027306 12 95694394 [A/G] NM_017599,NR_038241,NR_038242 VEZT,VEZT,VEZT EXON Missense_G762D,Silent,Silent exm2271777 12 95796054 [T/C] exm1027338 12 95879681 [G/C] NM_006838 METAP2 EXON Missense_V118L exm1027339 12 95879687 [A/G] NM_006838 METAP2 EXON Missense_I120V exm-rs4762519 12 95885590 [T/C] NM_006838 METAP2 Silent exm1788705 12 95887895 [T/G] NM_006838 METAP2 EXON Missense_E164D exm1027347 12 95889831 [T/C] NM_006838 METAP2 EXON Missense_T275M exm1027366 12 95907463 [A/G] NM_006838 METAP2 EXON Missense_N407S exm1027388 12 95914962 [T/C] NM_032147,NM_001042403 USP44,USP44 EXON Missense_N584D,Missense_N584D exm1027399 12 95922691 [T/C] NM_032147,NM_001042403 USP44,USP44 EXON Missense_S506G,Missense_S506G exm1027404 12 95926622 [T/C] NM_032147,NM_001042403 USP44,USP44 EXON Missense_G471R,Missense_G471R exm1027416 12 95926946 [T/C] NM_032147,NM_001042403 USP44,USP44 EXON Missense_G363S,Missense_G363S exm1027419 12 95926991 [T/C] NM_032147,NM_001042403 USP44,USP44 EXON Missense_R348G,Missense_R348G exm1027425 12 95927087 [C/G] NM_032147,NM_001042403 USP44,USP44 EXON Missense_E316Q,Missense_E316Q exm1027432 12 95927326 [A/G] NM_032147,NM_001042403 USP44,USP44 EXON Missense_T236M,Missense_T236M exm1027434 12 95927452 [T/C] NM_032147,NM_001042403 USP44,USP44 EXON Missense_R194Q,Missense_R194Q exm1027436 12 95927530 [T/G] NM_032147,NM_001042403 USP44,USP44 EXON Missense_Q168P,Missense_Q168P exm1027437 12 95927539 [T/C] NM_032147,NM_001042403 USP44,USP44 EXON Nonsense_W165X,Nonsense_W165X exm1027443 12 95927666 [T/G] NM_032147,NM_001042403 USP44,USP44 EXON Missense_M123L,Missense_M123L exm1027449 12 95927762 [T/C] NM_032147,NM_001042403 USP44,USP44 EXON Missense_T91A,Missense_T91A exm1027450 12 95927782 [T/C] NM_032147,NM_001042403 USP44,USP44 EXON Missense_D84G,Missense_D84G exm1027454 12 95927927 [T/C] NM_032147,NM_001042403 USP44,USP44 EXON Missense_E36K,Missense_E36K exm1027483 12 96077310 [A/C] NM_021229 NTN4 EXON Missense_G453V exm1027486 12 96077344 [T/C] NM_021229 NTN4 EXON Missense_G442R exm1027492 12 96077486 [T/C] NM_021229 NTN4 EXON Synonymous_P394P exm1027493 12 96104219 [A/G] NM_021229 NTN4 EXON Missense_P394S exm1027495 12 96104260 [T/C] NM_021229 NTN4 EXON Missense_R380H exm1027502 12 96104380 [T/G] NM_021229 NTN4 EXON Missense_T340N exm2271861 12 96124901 [T/C] NM_021229 NTN4 Silent exm1027517 12 96131871 [T/C] NM_021229 NTN4 EXON Missense_A213T exm1027519 12 96131895 [A/G] NM_021229 NTN4 EXON Missense_Y205H exm-rs4341610 12 96149288 [A/C] NM_021229 NTN4 Silent exm1027524 12 96180806 [T/C] NM_021229 NTN4 EXON Missense_A166T exm1027531 12 96180964 [T/G] NM_021229 NTN4 EXON Missense_H113P exm1027533 12 96180994 [T/C] NM_021229 NTN4 EXON Missense_R103H exm1027538 12 96181085 [A/G] NM_021229 NTN4 EXON Missense_R73W exm1027545 12 96181228 [A/C] NM_021229 NTN4 EXON Missense_G25V exm1027564 12 96260886 [T/C] NM_182496 CCDC38 EXON Missense_K554E exm1027565 12 96260923 [T/G] NM_182496 CCDC38 EXON Missense_N541K exm1027567 12 96260937 [T/G] NM_182496 CCDC38 EXON Missense_P537T exm1027569 12 96260948 [A/C] NM_182496 CCDC38 EXON Missense_F533C exm1027575 12 96263275 [A/C] NM_182496 CCDC38 EXON Missense_A521S exm1027577 12 96263341 [T/C] NM_182496 CCDC38 EXON Missense_E499K exm1027581 12 96266039 [T/C] NM_182496 CCDC38 EXON Missense_R493Q exm1788799 12 96266163 [T/C] NM_182496 CCDC38 EXON Missense_G452S exm1027595 12 96273421 [T/C] NM_182496 CCDC38 Silent exm1788809 12 96275271 [T/C] NM_182496 CCDC38 EXON Missense_V328I exm1027601 12 96275306 [T/C] NM_182496 CCDC38 EXON Missense_D316G exm1027602 12 96275316 [T/C] NM_182496 CCDC38 EXON Missense_G313S exm1027606 12 96282261 [A/G] NM_182496 CCDC38 EXON Missense_R299C exm1027609 12 96284610 [T/C] NM_182496 CCDC38 EXON Missense_G291R exm1027613 12 96284649 [T/C] NM_182496 CCDC38 EXON Missense_V278I exm1027618 12 96288809 [A/G] NM_182496 CCDC38 EXON Missense_S244P exm1027619 12 96288812 [T/C] NM_182496 CCDC38 EXON Missense_A243T exm1027621 12 96288860 [T/C] NM_182496 CCDC38 EXON Missense_M227V exm1027623 12 96292170 [C/G] NM_182496 CCDC38 EXON Missense_V203L exm1027630 12 96292455 [T/C] NM_182496 CCDC38 EXON Missense_M142V exm1027650 12 96311036 [T/C] NM_182496 CCDC38 EXON Missense_K59E exm1027651 12 96311056 [T/C] NM_182496 CCDC38 EXON Missense_R52H exm1027652 12 96311057 [A/G] NM_182496 CCDC38 EXON Missense_R52C exm1027655 12 96312655 [A/G] NM_182496 CCDC38 EXON Missense_T46M exm1027657 12 96312686 [A/C] NM_182496 CCDC38 EXON Missense_V36F exm1027663 12 96337183 [A/G] NM_152435 AMDHD1 EXON Missense_S3G exm1027678 12 96350571 [G/C] NM_152435 AMDHD1 EXON Missense_Q140E exm1027679 12 96350586 [A/G] NM_152435 AMDHD1 EXON Missense_M145V exm1027688 12 96354236 [T/G] NM_152435 AMDHD1 EXON Missense_K216N exm1027690 12 96354264 [A/G] NM_152435 AMDHD1 EXON Missense_V226M exm1027692 12 96354279 [A/G] NM_152435 AMDHD1 EXON Missense_V231I exm1027700 12 96354401 [A/G] NM_152435 AMDHD1 EXON Synonymous_E271E exm1027701 12 96356152 [T/C] NM_152435 AMDHD1 EXON Missense_A278V exm1027702 12 96356191 [T/G] NM_152435 AMDHD1 EXON Missense_G291V exm1027705 12 96356205 [A/G] NM_152435 AMDHD1 EXON Missense_A296T exm1027712 12 96360132 [A/G] NM_152435 AMDHD1 EXON Missense_V347I exm1027716 12 96360155 [C/G] NM_152435 AMDHD1 EXON Missense_N354K exm1027718 12 96360172 [A/C] NM_152435 AMDHD1 EXON Missense_P360H exm1027723 12 96360285 [T/C] NM_152435 AMDHD1 EXON Nonsense_R398X exm1027724 12 96360286 [A/G] NM_152435 AMDHD1 EXON Missense_R398Q exm1027735 12 96368014 [A/T] NM_001258333,NM_001258334,NM_002108 HAL,HAL,HAL EXON Missense_L449H,Silent,Missense_L657H exm1027740 12 96370232 [G/C] NM_001258333,NM_001258334,NM_002108 HAL,HAL,HAL EXON Missense_A395G,Silent,Missense_A603G exm1027743 12 96370247 [A/G] NM_001258333,NM_001258334,NM_002108 HAL,HAL,HAL EXON Missense_P390L,Silent,Missense_P598L exm1027745 12 96370388 [T/C] NM_001258333,NM_001258334,NM_002108 HAL,HAL,HAL EXON Missense_R376H,Missense_R584H,Missense_R584H exm1027747 12 96370415 [A/G] NM_001258333,NM_001258334,NM_002108 HAL,HAL,HAL EXON Missense_P367L,Missense_P575L,Missense_P575L exm1027752 12 96371731 [T/C] NM_001258333,NM_001258334,NM_002108 HAL,HAL,HAL EXON Missense_V341M,Missense_V549M,Missense_V549M exm1027753 12 96371767 [A/G] NM_001258333,NM_001258334,NM_002108 HAL,HAL,HAL EXON Missense_W329R,Missense_W537R,Missense_W537R exm1788883 12 96371782 [T/C] NM_001258333,NM_001258334,NM_002108 HAL,HAL,HAL EXON Missense_V324I,Missense_V532I,Missense_V532I exm1027755 12 96371793 [A/G] NM_001258333,NM_001258334,NM_002108 HAL,HAL,HAL EXON Missense_T320M,Missense_T528M,Missense_T528M exm1027760 12 96374333 [T/C] NM_001258333,NM_001258334,NM_002108 HAL,HAL,HAL Silent,Silent,Silent exm1027761 12 96374387 [T/G] NM_001258333,NM_001258334,NM_002108 HAL,HAL,HAL EXON Missense_E281A,Missense_E489A,Missense_E489A exm1027769 12 96374475 [T/G] NM_001258333,NM_001258334,NM_002108 HAL,HAL,HAL EXON Missense_I252L,Missense_I460L,Missense_I460L exm1027774 12 96374600 [G/C] NM_001258333,NM_001258334,NM_002108 HAL,HAL,HAL EXON Missense_N235K,Missense_N443K,Missense_N443K exm1027775 12 96374614 [T/C] NM_001258333,NM_001258334,NM_002108 HAL,HAL,HAL EXON Missense_V231I,Missense_V439I,Missense_V439I exm1027776 12 96374622 [T/C] NM_001258333,NM_001258334,NM_002108 HAL,HAL,HAL EXON Missense_G228E,Missense_G436E,Missense_G436E exm1027781 12 96377687 [A/G] NM_001258333,NM_001258334,NM_002108 HAL,HAL,HAL Silent,Silent,Silent exm1027787 12 96379723 [T/C] NM_001258333,NM_001258334,NM_002108 HAL,HAL,HAL EXON Missense_R182H,Missense_R390H,Missense_R390H exm1027791 12 96379884 [T/C] NM_001258333,NM_001258334,NM_002108 HAL,HAL,HAL EXON Missense_R161Q,Missense_R369Q,Missense_R369Q exm1788895 12 96379914 [T/C] NM_001258333,NM_001258334,NM_002108 HAL,HAL,HAL EXON Missense_R151H,Missense_R359H,Missense_R359H exm1027801 12 96380932 [A/G] NM_001258333,NM_001258334,NM_002108 HAL,HAL,HAL EXON Nonsense_R114X,Nonsense_R322X,Nonsense_R322X exm1027811 12 96384171 [A/G] NM_001258333,NM_001258334,NM_002108 HAL,HAL,HAL EXON Synonymous_Y77Y,Synonymous_Y285Y,Synonymous_Y285Y exm1027813 12 96384185 [T/C] NM_001258333,NM_001258334,NM_002108 HAL,HAL,HAL EXON Missense_A73T,Missense_A281T,Missense_A281T exm1027818 12 96384302 [T/G] NM_001258333,NM_001258334,NM_002108 HAL,HAL,HAL EXON Missense_L34M,Missense_L242M,Missense_L242M exm1027819 12 96384309 [A/G] NM_001258333,NM_001258334,NM_002108 HAL,HAL,HAL EXON Synonymous_A31A,Synonymous_A239A,Synonymous_A239A exm1027823 12 96386487 [A/G] NM_001258333,NM_001258334,NM_002108 HAL,HAL,HAL EXON Missense_T21I,Missense_T229I,Missense_T229I exm1027825 12 96386565 [T/C] NM_001258333,NM_001258334,NM_002108 HAL,HAL,HAL EXON Silent,Missense_S203N,Missense_S203N exm1027828 12 96387240 [C/G] NM_001258333,NM_001258334,NM_002108 HAL,HAL,HAL EXON Silent,Nonsense_S193X,Nonsense_S193X exm1027832 12 96387608 [T/C] NM_001258333,NM_001258334,NM_002108 HAL,HAL,HAL EXON Silent,Missense_G165S,Missense_G165S exm1027836 12 96387718 [A/G] NM_001258333,NM_001258334,NM_002108 HAL,HAL,HAL EXON Silent,Missense_I157T,Missense_I157T exm1027851 12 96388590 [A/G] NM_001258333,NM_001258334,NM_002108 HAL,HAL,HAL EXON Silent,Missense_R108W,Missense_R108W exm1027852 12 96388603 [T/C] NM_001258333,NM_001258334,NM_002108 HAL,HAL,HAL EXON Silent,Synonymous_L103L,Synonymous_L103L exm1027853 12 96388605 [T/C] NM_001258333,NM_001258334,NM_002108 HAL,HAL,HAL Silent,Silent,Silent exm1027854 12 96388732 [A/G] NM_001258333,NM_001258334,NM_002108 HAL,HAL,HAL EXON Silent,Missense_S96F,Missense_S96F exm1027864 12 96389595 [A/C] NM_001258333,NM_001258334,NM_002108 HAL,HAL,HAL EXON Silent,Missense_V32L,Missense_V32L exm1027869 12 96389664 [A/G] NM_001258333,NM_001258334,NM_002108 HAL,HAL,HAL EXON Silent,Missense_R9C,Missense_R9C exm1027873 12 96394792 [A/G] NM_001256644,NM_001256643,NM_000895 LTA4H,LTA4H,LTA4H EXON Silent,Missense_V580A,Missense_V604A exm1027889 12 96407595 [T/G] NM_001256644,NM_001256643,NM_000895 LTA4H,LTA4H,LTA4H EXON Missense_K390T,Missense_K390T,Missense_K414T exm1027898 12 96409429 [T/C] NM_001256644,NM_001256643,NM_000895 LTA4H,LTA4H,LTA4H EXON Missense_G307R,Missense_G307R,Missense_G331R exm1027909 12 96412663 [T/C] NM_001256644,NM_001256643,NM_000895 LTA4H,LTA4H,LTA4H EXON Missense_I220V,Missense_I220V,Missense_I244V exm1027915 12 96416019 [C/G] NM_001256644,NM_001256643,NM_000895 LTA4H,LTA4H,LTA4H EXON Missense_P140R,Missense_P140R,Missense_P164R exm1027923 12 96422843 [T/C] NM_001256644,NM_001256643,NM_000895 LTA4H,LTA4H,LTA4H EXON Missense_A70T,Missense_A70T,Missense_A94T exm1788973 12 96422930 [T/C] NM_001256644,NM_001256643,NM_000895 LTA4H,LTA4H,LTA4H EXON Missense_V41I,Missense_V41I,Missense_V65I exm1027936 12 96429287 [A/G] NM_001256644,NM_001256643,NM_000895 LTA4H,LTA4H,LTA4H EXON Silent,Silent,Missense_I4T exm1027955 12 96640857 [T/C] NM_005230 ELK3 EXON Missense_P116L exm1027962 12 96640989 [T/C] NM_005230 ELK3 EXON Missense_A160V exm1789011 12 96641003 [A/G] NM_005230 ELK3 EXON Missense_K165E exm1027970 12 96641121 [T/C] NM_005230 ELK3 EXON Missense_T204M exm1027971 12 96641133 [T/C] NM_005230 ELK3 EXON Missense_A208V exm1027975 12 96641147 [T/C] NM_005230 ELK3 EXON Missense_F213L exm1027984 12 96641300 [G/C] NM_005230 ELK3 EXON Missense_A264P exm1027999 12 96641454 [T/C] NM_005230 ELK3 EXON Missense_A315V exm1028005 12 96653599 [A/G] NM_005230 ELK3 EXON Missense_A365T exm1028010 12 96660883 [A/C] NM_005230 ELK3 EXON Missense_H383Q exm1028019 12 96674555 [T/C] NM_002595,NM_001170464 CDK17,CDK17 EXON Silent,Missense_R522Q exm1028021 12 96674609 [T/C] NM_002595,NM_001170464 CDK17,CDK17 EXON Missense_R504Q,Missense_R504Q exm2251269 12 96676330 [A/C] NM_002595,NM_001170464 CDK17,CDK17 EXON Synonymous_V471V,Synonymous_V471V exm1028032 12 96679849 [A/G] NM_002595,NM_001170464 CDK17,CDK17 EXON Missense_P432S,Missense_P432S exm1028055 12 96704830 [T/C] NM_002595,NM_001170464 CDK17,CDK17 EXON Synonymous_L181L,Synonymous_L181L exm1028067 12 96717861 [T/C] NM_002595,NM_001170464 CDK17,CDK17 EXON Missense_T50A,Missense_T50A exm-rs11108495 12 96807917 [T/C] exm2267463 12 97234893 [A/G] exm1028279 12 97313803 [A/G] NM_001135177,NM_001135176,NM_152905,NM_001135175 NEDD1,NEDD1,NEDD1,NEDD1 EXON Missense_N41S,Missense_N130S,Missense_N130S,Missense_N137S exm1028284 12 97328755 [T/C] NM_001135177,NM_001135176,NM_152905,NM_001135175 NEDD1,NEDD1,NEDD1,NEDD1 EXON Missense_S75F,Missense_S164F,Missense_S164F,Missense_S171F exm1028292 12 97330474 [T/C] NM_001135177,NM_001135176,NM_152905,NM_001135175 NEDD1,NEDD1,NEDD1,NEDD1 EXON Missense_R180W,Missense_R269W,Missense_R269W,Missense_R276W exm1028293 12 97330475 [A/G] NM_001135177,NM_001135176,NM_152905,NM_001135175 NEDD1,NEDD1,NEDD1,NEDD1 EXON Missense_R180Q,Missense_R269Q,Missense_R269Q,Missense_R276Q exm1028302 12 97331088 [T/C] NM_001135177,NM_001135176,NM_152905,NM_001135175 NEDD1,NEDD1,NEDD1,NEDD1 EXON Missense_P256L,Missense_P345L,Missense_P345L,Missense_P352L exm1028315 12 97337353 [T/C] NM_001135177,NM_001135176,NM_152905,NM_001135175 NEDD1,NEDD1,NEDD1,NEDD1 EXON Missense_P348L,Missense_P437L,Missense_P437L,Missense_P444L exm1028316 12 97337367 [A/G] NM_001135177,NM_001135176,NM_152905,NM_001135175 NEDD1,NEDD1,NEDD1,NEDD1 EXON Missense_V353M,Missense_V442M,Missense_V442M,Missense_V449M exm1028322 12 97338420 [A/G] NM_001135177,NM_001135176,NM_152905,NM_001135175 NEDD1,NEDD1,NEDD1,NEDD1 EXON Missense_A412T,Missense_A501T,Missense_A501T,Missense_A508T exm1028323 12 97338439 [A/G] NM_001135177,NM_001135176,NM_152905,NM_001135175 NEDD1,NEDD1,NEDD1,NEDD1 EXON Missense_G418D,Missense_G507D,Missense_G507D,Missense_G514D exm1028325 12 97338468 [A/C] NM_001135177,NM_001135176,NM_152905,NM_001135175 NEDD1,NEDD1,NEDD1,NEDD1 EXON Missense_P428T,Missense_P517T,Missense_P517T,Missense_P524T exm1028326 12 97338479 [A/C] NM_001135177,NM_001135176,NM_152905,NM_001135175 NEDD1,NEDD1,NEDD1,NEDD1 EXON Missense_N431K,Missense_N520K,Missense_N520K,Missense_N527K exm1028330 12 97339473 [C/G] NM_001135177,NM_001135176,NM_152905,NM_001135175 NEDD1,NEDD1,NEDD1,NEDD1 EXON Missense_P464A,Missense_P553A,Missense_P553A,Missense_P560A exm1028335 12 97339551 [T/C] NM_001135177,NM_001135176,NM_152905,NM_001135175 NEDD1,NEDD1,NEDD1,NEDD1 EXON Missense_R490W,Missense_R579W,Missense_R579W,Missense_R586W exm1028337 12 97345753 [T/A] NM_001135177,NM_001135176,NM_152905,NM_001135175 NEDD1,NEDD1,NEDD1,NEDD1 EXON Missense_R546S,Missense_R635S,Missense_R635S,Missense_R642S exm2267384 12 97416064 [A/G] exm-rs1012315 12 97639144 [A/G] exm-rs10777845 12 97689768 [T/C] exm2267385 12 97798562 [A/G] exm2260150 12 97873725 [A/C] NR_024037 RMST Silent exm2271779 12 98330085 [T/C] exm-rs741525 12 98792019 [A/C] exm2271862 12 98881228 [T/G] NR_038383 LOC643770 Silent exm1028368 12 98921742 [A/C] NM_001032284,NM_003276,NM_001032283 TMPO,TMPO,TMPO EXON Missense_L120I,Missense_L120I,Missense_L120I exm1028383 12 98926721 [T/C] NM_001032284,NM_003276,NM_001032283 TMPO,TMPO,TMPO EXON Silent,Missense_T229I,Silent exm1028385 12 98926748 [T/G] NM_001032284,NM_003276,NM_001032283 TMPO,TMPO,TMPO EXON Silent,Missense_L238R,Silent exm1028386 12 98926802 [T/A] NM_001032284,NM_003276,NM_001032283 TMPO,TMPO,TMPO EXON Silent,Missense_L256H,Silent exm1028392 12 98926912 [T/G] NM_001032284,NM_003276,NM_001032283 TMPO,TMPO,TMPO EXON Silent,Missense_S293A,Silent exm1028400 12 98926960 [C/G] NM_001032284,NM_003276,NM_001032283 TMPO,TMPO,TMPO EXON Silent,Missense_A309P,Silent exm1028403 12 98926985 [C/G] NM_001032284,NM_003276,NM_001032283 TMPO,TMPO,TMPO EXON Silent,Missense_T317S,Silent exm2221291 12 98927029 [A/G] NM_001032284,NM_003276,NM_001032283 TMPO,TMPO,TMPO EXON Silent,Missense_R332G,Silent exm1028416 12 98927281 [A/G] NM_001032284,NM_003276,NM_001032283 TMPO,TMPO,TMPO EXON Silent,Missense_K416E,Silent exm1028418 12 98927312 [T/C] NM_001032284,NM_003276,NM_001032283 TMPO,TMPO,TMPO EXON Silent,Missense_P426L,Silent exm1028420 12 98927344 [C/G] NM_001032284,NM_003276,NM_001032283 TMPO,TMPO,TMPO EXON Silent,Missense_V437L,Silent exm1028422 12 98927366 [C/G] NM_001032284,NM_003276,NM_001032283 TMPO,TMPO,TMPO EXON Silent,Missense_S444C,Silent exm1028427 12 98927469 [C/G] NM_001032284,NM_003276,NM_001032283 TMPO,TMPO,TMPO EXON Silent,Missense_K478N,Silent exm1028428 12 98927506 [T/G] NM_001032284,NM_003276,NM_001032283 TMPO,TMPO,TMPO EXON Silent,Missense_S491A,Silent exm1028439 12 98927765 [T/C] NM_001032284,NM_003276,NM_001032283 TMPO,TMPO,TMPO EXON Silent,Missense_A577V,Silent exm1028441 12 98927830 [G/C] NM_001032284,NM_003276,NM_001032283 TMPO,TMPO,TMPO EXON Silent,Missense_Q599E,Silent exm1028442 12 98927840 [A/G] NM_001032284,NM_003276,NM_001032283 TMPO,TMPO,TMPO EXON Silent,Missense_Q602R,Silent exm1028449 12 98927984 [A/G] NM_001032284,NM_003276,NM_001032283 TMPO,TMPO,TMPO EXON Silent,Missense_R650H,Silent exm1028450 12 98927992 [T/C] NM_001032284,NM_003276,NM_001032283 TMPO,TMPO,TMPO EXON Silent,Missense_L653F,Silent exm1028453 12 98928103 [T/C] NM_001032284,NM_003276,NM_001032283 TMPO,TMPO,TMPO EXON Silent,Missense_R690C,Silent exm2264478 12 98936974 [A/C] NM_001032284,NM_001032283 TMPO,TMPO Silent,Silent exm1028458 12 98938242 [A/G] NM_001032284,NM_001032283 TMPO,TMPO EXON Silent,Missense_R269H exm1028460 12 98938295 [C/G] NM_001032284,NM_001032283 TMPO,TMPO EXON Silent,Missense_A287P exm1028473 12 98941552 [T/G] NM_001032284,NM_001032283 TMPO,TMPO EXON Missense_L318F,Missense_L427F exm1028498 12 98991730 [T/C] NM_005888,NM_213611,NM_002635 SLC25A3,SLC25A3,SLC25A3 EXON Missense_F127L,Missense_F126L,Missense_F126L exm1028514 12 98992481 [T/C] NM_005888,NM_213611,NM_002635 SLC25A3,SLC25A3,SLC25A3 EXON Missense_A215V,Missense_A214V,Missense_A214V exm1028524 12 98993794 [A/G] NM_005888,NM_213611,NM_002635 SLC25A3,SLC25A3,SLC25A3 EXON Missense_A236T,Missense_A235T,Missense_A235T exm1789257 12 99007411 [A/C] NM_201613,NM_201612 IKBIP,IKBIP EXON Silent,Missense_E335D exm1028545 12 99007538 [T/C] NM_201613,NM_201612 IKBIP,IKBIP EXON Silent,Missense_R293H exm1028547 12 99007623 [T/C] NM_201613,NM_201612 IKBIP,IKBIP EXON Silent,Missense_G265S exm1028549 12 99007656 [C/G] NM_201613,NM_201612 IKBIP,IKBIP EXON Silent,Missense_D254H exm1789258 12 99007736 [A/G] NM_201613,NM_201612 IKBIP,IKBIP EXON Silent,Missense_T227M exm1028557 12 99007785 [C/G] NM_201613,NM_201612 IKBIP,IKBIP EXON Silent,Missense_V211L exm1028558 12 99007799 [A/G] NM_201613,NM_201612 IKBIP,IKBIP EXON Silent,Missense_V206A exm1028564 12 99007880 [A/G] NM_201613,NM_201612 IKBIP,IKBIP EXON Silent,Missense_I179T exm1028566 12 99007904 [T/C] NM_201613,NM_201612 IKBIP,IKBIP EXON Silent,Missense_K171R exm1028568 12 99007964 [A/G] NM_201613,NM_201612 IKBIP,IKBIP EXON Silent,Missense_S151F exm1028573 12 99008082 [A/T] NM_201613,NM_201612 IKBIP,IKBIP EXON Silent,Missense_S112T exm1028590 12 99020085 [T/C] NM_201613,NM_201612,NM_153687 IKBIP,IKBIP,IKBIP EXON Silent,Silent,Missense_E253K exm1028596 12 99020163 [T/C] NM_201613,NM_201612,NM_153687 IKBIP,IKBIP,IKBIP EXON Silent,Silent,Missense_V227I exm1789271 12 99020229 [T/A] NM_201613,NM_201612,NM_153687 IKBIP,IKBIP,IKBIP EXON Silent,Silent,Missense_L205M exm1028601 12 99020285 [A/C] NM_201613,NM_201612,NM_153687 IKBIP,IKBIP,IKBIP EXON Silent,Silent,Missense_V186G exm1028606 12 99020373 [A/C] NM_201613,NM_201612,NM_153687 IKBIP,IKBIP,IKBIP EXON Silent,Silent,Missense_D157Y exm1789273 12 99020453 [A/G] NM_201613,NM_201612,NM_153687 IKBIP,IKBIP,IKBIP EXON Silent,Silent,Missense_I130T exm1028611 12 99020476 [A/C] NM_201613,NM_201612,NM_153687 IKBIP,IKBIP,IKBIP EXON Silent,Silent,Missense_Q122H exm1789276 12 99020502 [T/G] NM_201613,NM_201612,NM_153687 IKBIP,IKBIP,IKBIP EXON Silent,Silent,Missense_M114L exm1789277 12 99028145 [A/G] NM_201613,NM_201612,NM_153687 IKBIP,IKBIP,IKBIP EXON Silent,Missense_Y76H,Missense_Y76H exm1789281 12 99042208 [A/G] NM_181869,NM_013229,NM_181861,NM_001160,NM_181868 APAF1,APAF1,APAF1,APAF1,APAF1 EXON Missense_Y24C,Missense_Y24C,Missense_Y24C,Missense_Y24C,Missense_Y24C exm1028632 12 99042539 [T/C] NM_181869,NM_013229,NM_181861,NM_001160,NM_181868 APAF1,APAF1,APAF1,APAF1,APAF1 EXON Missense_P92S,Missense_P92S,Missense_P92S,Missense_P92S,Missense_P92S exm1028638 12 99043367 [A/C] NM_181869,NM_013229,NM_181861,NM_001160,NM_181868 APAF1,APAF1,APAF1,APAF1,APAF1 EXON Missense_K144T,Missense_K133T,Missense_K144T,Missense_K133T,Missense_K144T exm1028640 12 99043435 [A/G] NM_181869,NM_013229,NM_181861,NM_001160,NM_181868 APAF1,APAF1,APAF1,APAF1,APAF1 EXON Missense_A167T,Missense_A156T,Missense_A167T,Missense_A156T,Missense_A167T exm1028652 12 99053093 [T/C] NM_181869,NM_013229,NM_181861,NM_001160,NM_181868 APAF1,APAF1,APAF1,APAF1,APAF1 EXON Missense_R228C,Missense_R217C,Missense_R228C,Missense_R217C,Missense_R228C exm1028656 12 99056304 [T/C] NM_181869,NM_013229,NM_181861,NM_001160,NM_181868 APAF1,APAF1,APAF1,APAF1,APAF1 EXON Missense_L261F,Missense_L250F,Missense_L261F,Missense_L250F,Missense_L261F exm1028662 12 99056527 [A/C] NM_181869,NM_013229,NM_181861,NM_001160,NM_181868 APAF1,APAF1,APAF1,APAF1,APAF1 EXON Missense_N300H,Missense_N289H,Missense_N300H,Missense_N289H,Missense_N300H exm1789294 12 99056540 [T/C] NM_181869,NM_013229,NM_181861,NM_001160,NM_181868 APAF1,APAF1,APAF1,APAF1,APAF1 EXON Missense_A304V,Missense_A293V,Missense_A304V,Missense_A293V,Missense_A304V exm2274623 12 99056566 [A/G] NM_181869,NM_013229,NM_181861,NM_001160,NM_181868 APAF1,APAF1,APAF1,APAF1,APAF1 EXON Missense_I313V,Missense_I302V,Missense_I313V,Missense_I302V,Missense_I313V exm1028673 12 99060100 [A/G] NM_181869,NM_013229,NM_181861,NM_001160,NM_181868 APAF1,APAF1,APAF1,APAF1,APAF1 EXON Silent,Missense_D432N,Missense_D443N,Missense_D432N,Missense_D443N exm1028674 12 99060109 [A/T] NM_181869,NM_013229,NM_181861,NM_001160,NM_181868 APAF1,APAF1,APAF1,APAF1,APAF1 EXON Silent,Missense_T435S,Missense_T446S,Missense_T435S,Missense_T446S exm1028675 12 99060123 [G/C] NM_181869,NM_013229,NM_181861,NM_001160,NM_181868 APAF1,APAF1,APAF1,APAF1,APAF1 EXON Silent,Missense_C439W,Missense_C450W,Missense_C439W,Missense_C450W exm1028677 12 99060134 [A/G] NM_181869,NM_013229,NM_181861,NM_001160,NM_181868 APAF1,APAF1,APAF1,APAF1,APAF1 EXON Silent,Missense_Q443R,Missense_Q454R,Missense_Q443R,Missense_Q454R exm1028680 12 99061337 [T/C] NM_181869,NM_013229,NM_181861,NM_001160,NM_181868 APAF1,APAF1,APAF1,APAF1,APAF1 EXON Silent,Missense_P459L,Missense_P470L,Missense_P459L,Missense_P470L exm1028685 12 99061365 [G/C] NM_181869,NM_013229,NM_181861,NM_001160,NM_181868 APAF1,APAF1,APAF1,APAF1,APAF1 EXON Silent,Missense_D468E,Missense_D479E,Missense_D468E,Missense_D479E exm1028696 12 99071283 [A/C] NM_181869,NM_013229,NM_181861,NM_001160,NM_181868 APAF1,APAF1,APAF1,APAF1,APAF1 EXON Silent,Missense_E614A,Missense_E625A,Missense_E614A,Missense_E625A exm2221296 12 99076989 [A/C] NM_181869,NM_013229,NM_181861,NM_001160,NM_181868 APAF1,APAF1,APAF1,APAF1,APAF1 EXON Silent,Nonsense_C694X,Nonsense_C705X,Nonsense_C694X,Nonsense_C705X exm2276884 12 99080553 [A/C] NM_181869,NM_013229,NM_181861,NM_001160,NM_181868 APAF1,APAF1,APAF1,APAF1,APAF1 EXON Silent,Synonymous_R725R,Synonymous_R736R,Synonymous_R725R,Synonymous_R736R exm1028710 12 99093210 [A/G] NM_181869,NM_013229,NM_181861,NM_001160,NM_181868 APAF1,APAF1,APAF1,APAF1,APAF1 EXON Silent,Missense_E766K,Missense_E777K,Missense_E766K,Missense_E777K exm1028712 12 99093226 [A/C] NM_181869,NM_013229,NM_181861,NM_001160,NM_181868 APAF1,APAF1,APAF1,APAF1,APAF1 EXON Silent,Missense_N771T,Missense_N782T,Missense_N771T,Missense_N782T exm1028721 12 99097192 [T/C] NM_181869,NM_013229,NM_181861,NM_001160,NM_181868 APAF1,APAF1,APAF1,APAF1,APAF1 EXON Silent,Missense_T826M,Missense_T837M,Silent,Silent exm1028725 12 99100279 [T/C] NM_181869,NM_013229,NM_181861,NM_001160,NM_181868 APAF1,APAF1,APAF1,APAF1,APAF1 EXON Silent,Missense_S860L,Missense_S871L,Missense_S817L,Missense_S828L exm1028727 12 99100348 [A/G] NM_181869,NM_013229,NM_181861,NM_001160,NM_181868 APAF1,APAF1,APAF1,APAF1,APAF1 EXON Silent,Missense_G883E,Missense_G894E,Missense_G840E,Missense_G851E exm1028740 12 99109320 [A/C] NM_181869,NM_013229,NM_181861,NM_001160,NM_181868 APAF1,APAF1,APAF1,APAF1,APAF1 EXON Silent,Missense_A1014D,Missense_A1025D,Missense_A971D,Missense_A982D exm1028743 12 99116998 [A/G] NM_181869,NM_013229,NM_181861,NM_001160,NM_181868 APAF1,APAF1,APAF1,APAF1,APAF1 EXON Silent,Missense_I1027V,Missense_I1038V,Missense_I984V,Missense_I995V exm1028744 12 99117007 [T/C] NM_181869,NM_013229,NM_181861,NM_001160,NM_181868 APAF1,APAF1,APAF1,APAF1,APAF1 EXON Silent,Nonsense_R1030X,Nonsense_R1041X,Nonsense_R987X,Nonsense_R998X exm1028752 12 99119209 [T/C] NM_181869,NM_013229,NM_181861,NM_001160,NM_181868 APAF1,APAF1,APAF1,APAF1,APAF1 EXON Silent,Missense_L1105P,Missense_L1116P,Missense_L1062P,Missense_L1073P exm1028759 12 99126270 [A/G] NM_181869,NM_013229,NM_181861,NM_001160,NM_181868 APAF1,APAF1,APAF1,APAF1,APAF1 EXON Silent,Missense_V1214M,Missense_V1225M,Missense_V1171M,Missense_V1182M exm2264479 12 99158757 [A/C] NM_001204081,NM_020140,NM_152788,NM_001204079,NM_001204080,NM_001204069,NM_001204066,NM_001204070,NM_001204065,NM_001204067,NM_001204068,NM_181670 ANKS1B,ANKS1B,ANKS1B,ANKS1B,ANKS1B,ANKS1B,ANKS1B,ANKS1B,ANKS1B,ANKS1B,ANKS1B,ANKS1B Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm-rs10860392 12 99498187 [T/C] NM_020140,NM_152788,NM_001204069,NM_001204066,NM_001204070,NM_001204067,NM_001204068,NM_181670 ANKS1B,ANKS1B,ANKS1B,ANKS1B,ANKS1B,ANKS1B,ANKS1B,ANKS1B Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm2267464 12 99586180 [A/G] NM_152788 ANKS1B Silent exm1028807 12 99638164 [A/G] NM_152788 ANKS1B EXON Missense_V792A exm1028809 12 99640106 [T/C] NM_152788 ANKS1B EXON Missense_S765G exm1028811 12 99640141 [G/C] NM_152788 ANKS1B EXON Missense_R753T exm1028812 12 99640157 [T/C] NM_152788 ANKS1B EXON Missense_N748D exm1028813 12 99640159 [G/C] NM_152788 ANKS1B EXON Missense_S747C exm1028816 12 99640268 [T/C] NM_152788 ANKS1B EXON Missense_E711K exm2271780 12 99776858 [T/G] NM_152788 ANKS1B Silent exm-rs7968606 12 99816842 [T/C] NM_152788 ANKS1B Silent exm1028839 12 99837570 [T/C] NM_152788 ANKS1B EXON Missense_A486T exm1028842 12 99898304 [T/G] NM_152788 ANKS1B EXON Missense_T463K exm1028843 12 99898391 [C/G] NM_152788 ANKS1B EXON Missense_T434S exm-rs2373011 12 99961349 [C/G] NM_152788 ANKS1B Silent exm1028849 12 100041996 [A/G] NM_152788,NM_153364 ANKS1B,FAM71C EXON Silent,Missense_S15N exm1028850 12 100041997 [A/C] NM_152788,NM_153364 ANKS1B,FAM71C EXON Silent,Missense_S15R exm1028851 12 100042040 [C/G] NM_152788,NM_153364 ANKS1B,FAM71C EXON Silent,Missense_R30G exm1028855 12 100042163 [A/G] NM_152788,NM_153364 ANKS1B,FAM71C EXON Silent,Missense_M71V exm1028860 12 100042220 [T/C] NM_152788,NM_153364 ANKS1B,FAM71C EXON Silent,Nonsense_R90X exm1028861 12 100042221 [A/G] NM_152788,NM_153364 ANKS1B,FAM71C EXON Silent,Missense_R90Q exm1028862 12 100042281 [T/C] NM_152788,NM_153364 ANKS1B,FAM71C EXON Silent,Missense_P110L exm1028863 12 100042287 [T/C] NM_152788,NM_153364 ANKS1B,FAM71C EXON Silent,Missense_A112V exm2219698 12 100042340 [A/G] NM_152788,NM_153364 ANKS1B,FAM71C EXON Silent,Missense_I130V exm1028870 12 100042482 [T/C] NM_152788,NM_153364 ANKS1B,FAM71C EXON Silent,Missense_V177A exm1028871 12 100042539 [T/C] NM_152788,NM_153364 ANKS1B,FAM71C EXON Silent,Missense_V196A exm1028879 12 100048951 [A/G] NM_152788 ANKS1B EXON Missense_V389A exm2271781 12 100063310 [T/C] NM_152788 ANKS1B Silent exm1028887 12 100169425 [T/C] NM_152788 ANKS1B EXON Missense_V288M exm1028893 12 100200474 [T/C] NM_152788 ANKS1B EXON Missense_N126S exm-rs11110077 12 100266113 [G/C] NM_152788 ANKS1B Silent exm1028906 12 100377966 [A/G] NM_152788 ANKS1B EXON Missense_A17V exm-rs10860548 12 100380198 [T/C] exm1028908 12 100431425 [T/C] NM_015054 UHRF1BP1L EXON Missense_T1462A exm1028913 12 100433407 [A/C] NM_015054 UHRF1BP1L EXON Missense_F1414L exm1749557 12 100433462 [A/G] NM_015054 UHRF1BP1L EXON Missense_T1396M exm1028915 12 100433472 [A/G] NM_015054 UHRF1BP1L EXON Missense_R1393C exm1028918 12 100441407 [A/G] NM_015054 UHRF1BP1L EXON Missense_P1328S exm1028920 12 100441815 [G/C] NM_015054 UHRF1BP1L EXON Missense_S1293C exm2219699 12 100441837 [T/C] NM_015054 UHRF1BP1L EXON Missense_S1286G exm1028921 12 100441851 [T/C] NM_015054 UHRF1BP1L EXON Missense_H1281R exm1028922 12 100441957 [T/C] NM_015054 UHRF1BP1L EXON Missense_V1246I exm1028930 12 100444901 [T/C] NM_015054 UHRF1BP1L EXON Missense_I1175V exm1028931 12 100444973 [A/G] NM_015054 UHRF1BP1L EXON Missense_Y1151H exm1028932 12 100444984 [A/G] NM_015054 UHRF1BP1L EXON Missense_S1147L exm1028935 12 100451442 [T/A] NM_015054 UHRF1BP1L EXON Missense_M1111L exm1028939 12 100451493 [C/G] NM_015054 UHRF1BP1L EXON Missense_L1094V exm1028941 12 100451508 [A/G] NM_015054 UHRF1BP1L EXON Missense_R1089C exm1028946 12 100451882 [A/G] NM_015054 UHRF1BP1L EXON Missense_S1058L exm1028948 12 100451954 [A/G] NM_015054 UHRF1BP1L EXON Missense_T1034I exm1028949 12 100451955 [T/C] NM_015054 UHRF1BP1L EXON Missense_T1034A exm1028952 12 100452005 [A/G] NM_015054 UHRF1BP1L EXON Missense_S1017L exm1028953 12 100452027 [T/C] NM_015054 UHRF1BP1L EXON Missense_I1010V exm1028954 12 100452029 [T/C] NM_015054 UHRF1BP1L EXON Missense_S1009N exm1028955 12 100452041 [A/G] NM_015054 UHRF1BP1L EXON Missense_T1005I exm1028957 12 100452062 [T/C] NM_015054 UHRF1BP1L EXON Missense_D998G exm1028961 12 100452318 [T/C] NM_015054 UHRF1BP1L EXON Missense_I913V exm1028972 12 100452564 [T/G] NM_015054 UHRF1BP1L EXON Missense_H831N exm1028978 12 100452695 [A/G] NM_015054 UHRF1BP1L EXON Missense_P787L exm1028980 12 100452711 [T/C] NM_015054 UHRF1BP1L EXON Missense_N782D exm1028983 12 100452761 [T/C] NM_015054 UHRF1BP1L EXON Missense_R765Q exm1028988 12 100452828 [T/C] NM_015054 UHRF1BP1L EXON Missense_T743A exm1028996 12 100452991 [A/G] NM_015054 UHRF1BP1L EXON Synonymous_S688S exm2250532 12 100452991 [A/G] NM_015054 UHRF1BP1L EXON Synonymous_S688S exm1029000 12 100453079 [T/C] NM_015054 UHRF1BP1L EXON Missense_R659K exm2219702 12 100453146 [T/C] NM_015054 UHRF1BP1L EXON Missense_S637G exm1749584 12 100453257 [T/C] NM_015054 UHRF1BP1L EXON Missense_I600V exm1029011 12 100453800 [T/C] NM_015054 UHRF1BP1L EXON Missense_S524N exm1029023 12 100476834 [T/C] NM_015054,NM_001006947 UHRF1BP1L,UHRF1BP1L EXON Missense_S456N,Missense_S456N exm1029034 12 100482782 [T/C] NM_015054,NM_001006947 UHRF1BP1L,UHRF1BP1L EXON Missense_N311S,Missense_N311S exm1029035 12 100482798 [T/C] NM_015054,NM_001006947 UHRF1BP1L,UHRF1BP1L EXON Missense_I306V,Missense_I306V exm1029038 12 100482866 [A/G] NM_015054,NM_001006947 UHRF1BP1L,UHRF1BP1L EXON Missense_T283I,Missense_T283I exm1029040 12 100489446 [T/C] NM_015054,NM_001006947 UHRF1BP1L,UHRF1BP1L EXON Missense_Q280R,Missense_Q280R exm1029052 12 100492312 [T/C] NM_015054,NM_001006947 UHRF1BP1L,UHRF1BP1L EXON Missense_G116S,Missense_G116S exm1029101 12 100598719 [T/G] NM_022496,NR_048569,NR_048568 ACTR6,ACTR6,ACTR6 EXON Missense_V24F,Silent,Silent exm1029116 12 100603920 [T/G] NM_022496,NR_048569,NR_048568 ACTR6,ACTR6,ACTR6 EXON Missense_S150I,Silent,Silent exm1029125 12 100606248 [T/C] NM_022496,NR_048569,NR_048568 ACTR6,ACTR6,ACTR6 EXON Missense_T231I,Silent,Silent exm1029131 12 100613836 [A/C] NM_022496,NR_048569,NR_048568 ACTR6,ACTR6,ACTR6 EXON Missense_L325I,Silent,Silent exm1029151 12 100656056 [T/C] NM_152317 DEPDC4 EXON Missense_R229Q exm1029160 12 100657464 [T/C] NM_152317 DEPDC4 EXON Missense_H122R exm1029164 12 100657491 [T/C] NM_152317 DEPDC4 EXON Missense_N113S exm1749661 12 100657515 [A/C] NM_152317 DEPDC4 EXON Missense_M105R exm1029187 12 100660827 [A/C] NM_152317 DEPDC4 EXON Nonsense_E10X exm1749667 12 100660833 [G/C] NM_152317 DEPDC4 EXON Missense_A8P exm1029189 12 100660847 [A/G] NM_152317 DEPDC4 EXON Missense_P3L exm1749681 12 100706346 [T/C] NM_017988 SCYL2 EXON Missense_M256T exm1029214 12 100707308 [A/G] NM_017988 SCYL2 EXON Missense_M321V exm1029217 12 100708367 [T/C] NM_017988 SCYL2 EXON Missense_P357L exm1029236 12 100720403 [T/C] NM_017988 SCYL2 EXON Missense_R505C exm1029246 12 100727962 [A/G] NM_017988 SCYL2 EXON Missense_V594I exm1029247 12 100727980 [A/G] NM_017988 SCYL2 EXON Missense_N600D exm1029250 12 100728027 [A/G] NM_017988 SCYL2 EXON Missense_I615M exm1029257 12 100729646 [A/G] NM_017988 SCYL2 EXON Missense_E663K exm1029262 12 100732307 [G/C] NM_017988 SCYL2 EXON Missense_T716S exm1029264 12 100732360 [T/C] NM_017988 SCYL2 EXON Missense_S734P exm1029266 12 100732393 [A/G] NM_017988 SCYL2 EXON Missense_T745A exm1029277 12 100732822 [A/G] NM_017988 SCYL2 EXON Missense_V888M exm1029283 12 100732927 [A/G] NM_017988 SCYL2 EXON Missense_D923N exm1029287 12 100751192 [T/C] NM_139319,NM_001145288 SLC17A8,SLC17A8 EXON Missense_T8I,Missense_T8I exm1749715 12 100774609 [A/G] NM_139319,NM_001145288 SLC17A8,SLC17A8 EXON Missense_I78V,Missense_I78V exm2271863 12 100775956 [T/C] NM_139319,NM_001145288 SLC17A8,SLC17A8 Silent,Silent exm1029315 12 100784899 [T/C] NM_139319,NM_001145288 SLC17A8,SLC17A8 Silent,Silent exm1029319 12 100787205 [A/G] NM_139319,NM_001145288 SLC17A8,SLC17A8 EXON Missense_A178T,Missense_A178T exm1029320 12 100787220 [A/G] NM_139319,NM_001145288 SLC17A8,SLC17A8 EXON Missense_G183R,Missense_G183R exm1029353 12 100797882 [T/G] NM_139319,NM_001145288 SLC17A8,SLC17A8 EXON Missense_A374S,Missense_A324S exm2271782 12 100800193 [T/C] NM_139319,NM_001145288 SLC17A8,SLC17A8 Silent,Silent exm1029377 12 100813812 [A/G] NM_139319,NM_001145288 SLC17A8,SLC17A8 EXON Missense_G549R,Missense_G499R exm1029382 12 100887102 [A/G] NM_001206977,NM_005123,NM_001206978,NM_001206979 NR1H4,NR1H4,NR1H4,NR1H4 EXON Missense_M1V,Missense_M1V,Missense_M1V,Missense_M1V exm1029391 12 100904558 [A/G] NM_001206977,NM_005123,NM_001206978,NM_001206979,NM_001206992,NM_001206993 NR1H4,NR1H4,NR1H4,NR1H4,NR1H4,NR1H4 EXON Missense_V28I,Missense_V28I,Missense_V28I,Missense_V28I,Missense_V38I,Missense_V38I exm1029397 12 100904744 [T/C] NM_001206977,NM_005123,NM_001206978,NM_001206979,NM_001206992,NM_001206993 NR1H4,NR1H4,NR1H4,NR1H4,NR1H4,NR1H4 EXON Missense_R90C,Missense_R90C,Missense_R90C,Missense_R90C,Missense_R100C,Missense_R100C exm1029404 12 100926265 [A/G] NM_001206977,NM_005123,NM_001206978,NM_001206979,NM_001206992,NM_001206993 NR1H4,NR1H4,NR1H4,NR1H4,NR1H4,NR1H4 EXON Missense_A159T,Missense_A159T,Silent,Missense_A159T,Missense_A169T,Missense_A169T exm1029405 12 100926308 [T/C] NM_001206977,NM_005123,NM_001206978,NM_001206979,NM_001206992,NM_001206993 NR1H4,NR1H4,NR1H4,NR1H4,NR1H4,NR1H4 EXON Missense_M173T,Missense_M173T,Silent,Missense_M173T,Missense_M183T,Missense_M183T exm1029407 12 100928724 [T/C] NM_001206977,NM_005123,NM_001206978,NM_001206979,NM_001206992,NM_001206993 NR1H4,NR1H4,NR1H4,NR1H4,NR1H4,NR1H4 EXON Missense_H219Y,Missense_H215Y,Missense_H168Y,Missense_H219Y,Missense_H225Y,Missense_H229Y exm1029421 12 100934590 [A/C] NM_001206977,NM_005123,NM_001206978,NM_001206979,NM_001206992,NM_001206993 NR1H4,NR1H4,NR1H4,NR1H4,NR1H4,NR1H4 EXON Missense_N358H,Missense_N354H,Missense_N307H,Missense_N358H,Missense_N364H,Missense_N368H exm1029428 12 100957047 [A/G] NM_001206977,NM_005123,NM_001206978,NM_001206979,NM_001206992,NM_001206993 NR1H4,NR1H4,NR1H4,NR1H4,NR1H4,NR1H4 EXON Missense_D404G,Missense_D400G,Missense_D353G,Missense_D404G,Missense_D410G,Missense_D414G exm1029431 12 100994160 [A/G] NM_174942 GAS2L3 EXON Missense_V7I exm1029434 12 100994196 [A/G] NM_174942 GAS2L3 EXON Missense_S19G exm1029454 12 101016068 [A/G] NM_174942 GAS2L3 EXON Missense_E222K exm1029455 12 101016071 [A/G] NM_174942 GAS2L3 EXON Missense_D223N exm1029464 12 101017496 [T/C] NM_174942 GAS2L3 EXON Missense_P305S exm1029469 12 101017586 [A/G] NM_174942 GAS2L3 EXON Missense_V335M exm1029474 12 101017692 [A/G] NM_174942 GAS2L3 EXON Missense_R370H exm1029481 12 101017797 [T/C] NM_174942 GAS2L3 EXON Missense_S405L exm1029482 12 101017811 [A/C] NM_174942 GAS2L3 EXON Missense_N410H exm1029483 12 101017830 [T/C] NM_174942 GAS2L3 EXON Missense_T416I exm1029484 12 101017839 [T/C] NM_174942 GAS2L3 EXON Missense_P419L exm1029486 12 101017905 [A/C] NM_174942 GAS2L3 EXON Missense_T441N exm1029495 12 101018010 [A/C] NM_174942 GAS2L3 EXON Missense_H476P exm1029497 12 101018061 [T/C] NM_174942 GAS2L3 EXON Missense_S493L exm1029499 12 101018081 [A/C] NM_174942 GAS2L3 EXON Missense_P500T exm1029502 12 101018150 [A/G] NM_174942 GAS2L3 EXON Missense_K523E exm1029508 12 101018235 [T/C] NM_174942 GAS2L3 EXON Missense_A551V exm1029517 12 101018321 [A/G] NM_174942 GAS2L3 EXON Missense_D580N exm1029524 12 101018510 [A/G] NM_174942 GAS2L3 EXON Missense_K643E exm2271783 12 101332113 [T/C] NM_178826 ANO4 Silent exm1029543 12 101336201 [G/C] NM_178826 ANO4 EXON Missense_G80A exm2274624 12 101381343 [A/G] NM_178826 ANO4 EXON Missense_R175Q exm2219714 12 101381373 [T/C] NM_178826 ANO4 EXON Missense_L185P exm1029561 12 101413917 [T/C] NM_178826 ANO4 EXON Synonymous_I245I exm1029568 12 101436114 [A/G] NM_178826 ANO4 EXON Missense_R306Q exm1029569 12 101436218 [A/G] NM_178826 ANO4 EXON Missense_V341I exm1029604 12 101493469 [A/G] NM_178826 ANO4 EXON Missense_Y672C exm1749889 12 101493497 [A/G] NM_178826 ANO4 EXON Missense_M681I exm1029616 12 101510570 [A/C] NM_178826 ANO4 EXON Missense_Y820S exm1029628 12 101520764 [A/G] NM_178826 ANO4 EXON Missense_M893I exm1029630 12 101520784 [A/G] NM_178826 ANO4 EXON Missense_R900H exm1029638 12 101551065 [A/G] NM_145913 SLC5A8 EXON Missense_R609C exm1029648 12 101551173 [T/G] NM_145913 SLC5A8 EXON Missense_H573N exm1029650 12 101552067 [T/G] NM_145913 SLC5A8 EXON Missense_T557N exm1029660 12 101560328 [A/C] NM_145913 SLC5A8 EXON Missense_M490I exm2250537 12 101573812 [A/G] NM_145913 SLC5A8 EXON Synonymous_L410L exm1029675 12 101573812 [A/G] NM_145913 SLC5A8 EXON Synonymous_L410L exm1029683 12 101577955 [A/G] NM_145913 SLC5A8 EXON Missense_L337F exm1029685 12 101581185 [C/G] NM_145913 SLC5A8 EXON Missense_K314N exm1029687 12 101581204 [T/C] NM_145913 SLC5A8 EXON Missense_C308Y exm1029696 12 101584316 [T/C] NM_145913 SLC5A8 EXON Missense_S255G exm1029698 12 101584328 [A/C] NM_145913 SLC5A8 EXON Missense_F251V exm1029704 12 101587428 [T/C] NM_145913 SLC5A8 EXON Missense_D223N exm1029705 12 101587465 [T/C] NM_145913 SLC5A8 EXON Missense_M210I exm1029708 12 101587518 [T/C] NM_145913 SLC5A8 EXON Missense_V193I exm1029712 12 101588917 [T/C] NM_145913 SLC5A8 EXON Missense_A165T exm1029723 12 101603467 [T/C] NM_145913 SLC5A8 EXON Missense_A54T exm1029726 12 101603524 [A/C] NM_145913 SLC5A8 EXON Missense_A35S exm1029733 12 101603597 [T/G] NM_145913 SLC5A8 EXON Missense_F10L exm1029737 12 101674913 [A/G] NM_014503 UTP20 EXON Missense_R22Q exm1029742 12 101679367 [T/C] NM_014503 UTP20 EXON Missense_F49S exm1029747 12 101679569 [A/G] NM_014503 UTP20 EXON Missense_N79S exm1029750 12 101679595 [A/G] NM_014503 UTP20 EXON Missense_I88V exm1029753 12 101679652 [G/C] NM_014503 UTP20 EXON Missense_L107V exm1029754 12 101679658 [A/G] NM_014503 UTP20 EXON Missense_D109N exm1029755 12 101680131 [T/C] NM_014503 UTP20 EXON Missense_M120T exm1029765 12 101680273 [A/G] NM_014503 UTP20 EXON Missense_M167I exm1029766 12 101682764 [A/G] NM_014503 UTP20 EXON Missense_K181R exm1029767 12 101682809 [T/G] NM_014503 UTP20 EXON Missense_L196W exm2219719 12 101683945 [A/G] NM_014503 UTP20 EXON Missense_M210V exm1029775 12 101684534 [C/G] NM_014503 UTP20 EXON Missense_K253N exm1029782 12 101685524 [T/C] NM_014503 UTP20 EXON Missense_S299L exm1029790 12 101685643 [A/C] NM_014503 UTP20 EXON Missense_P339T exm1029792 12 101685655 [G/C] NM_014503 UTP20 EXON Missense_D343H exm1029793 12 101685658 [A/G] NM_014503 UTP20 EXON Missense_V344I exm1029805 12 101685838 [T/A] NM_014503 UTP20 EXON Missense_N377Y exm1029808 12 101685874 [A/G] NM_014503 UTP20 EXON Missense_I389V exm1029826 12 101693461 [T/A] NM_014503 UTP20 EXON Missense_F478I exm1029830 12 101693499 [T/A] NM_014503 UTP20 EXON Missense_R490S exm1029832 12 101693534 [G/C] NM_014503 UTP20 EXON Missense_S502C exm1029833 12 101693596 [A/G] NM_014503 UTP20 EXON Missense_V523M exm1029834 12 101693788 [A/G] NM_014503 UTP20 EXON Missense_G542S exm1029837 12 101693818 [T/G] NM_014503 UTP20 EXON Missense_D552Y exm1029855 12 101701981 [T/C] NM_014503 UTP20 EXON Missense_R672W exm1029856 12 101702003 [T/C] NM_014503 UTP20 EXON Missense_L679S exm1029858 12 101702045 [A/G] NM_014503 UTP20 EXON Missense_R693K exm1029862 12 101703545 [T/C] NM_014503 UTP20 EXON Missense_P720L exm2219724 12 101706015 [A/G] NM_014503 UTP20 EXON Missense_R838Q exm1029878 12 101706054 [A/T] NM_014503 UTP20 EXON Missense_N851I exm1029879 12 101711309 [A/G] NM_014503 UTP20 EXON Missense_R869K exm1029881 12 101711341 [A/G] NM_014503 UTP20 EXON Missense_E880K exm1029891 12 101713357 [T/G] NM_014503 UTP20 EXON Missense_F925V exm1029895 12 101714630 [T/C] NM_014503 UTP20 EXON Synonymous_L944L exm1029907 12 101715373 [A/G] NM_014503 UTP20 EXON Missense_A1003T exm1029909 12 101720890 [A/G] NM_014503 UTP20 EXON Missense_G1025R exm1029914 12 101723088 [A/G] NM_014503 UTP20 EXON Missense_R1093H exm1029917 12 101723177 [C/G] NM_014503 UTP20 EXON Missense_L1123V exm1029921 12 101727118 [T/C] NM_014503 UTP20 EXON Missense_R1153C exm1029925 12 101728205 [C/G] NM_014503 UTP20 EXON Missense_I1188M exm1029926 12 101728216 [A/G] NM_014503 UTP20 EXON Missense_G1192E exm1029934 12 101731902 [A/C] NM_014503 UTP20 EXON Missense_L1239I exm1029935 12 101731909 [T/C] NM_014503 UTP20 EXON Missense_A1241V exm1029938 12 101731968 [A/G] NM_014503 UTP20 EXON Missense_N1261D exm1029952 12 101734308 [A/C] NM_014503 UTP20 EXON Missense_K1341Q exm1029956 12 101736240 [T/C] NM_014503 UTP20 EXON Missense_I1373T exm1029958 12 101736357 [T/C] NM_014503 UTP20 EXON Missense_T1412M exm1029963 12 101736761 [A/G] NM_014503 UTP20 EXON Missense_D1447N exm1029966 12 101736784 [C/G] NM_014503 UTP20 EXON Missense_Q1454H exm1029969 12 101738383 [T/C] NM_014503 UTP20 EXON Missense_M1487T exm1750070 12 101738482 [A/G] NM_014503 UTP20 EXON Missense_R1520H exm1029974 12 101739442 [A/G] NM_014503 UTP20 EXON Missense_M1572I exm1750079 12 101740361 [T/C] NM_014503 UTP20 EXON Missense_L1627F exm1029982 12 101745900 [A/C] NM_014503 UTP20 EXON Missense_A1651E exm1029984 12 101745944 [A/G] NM_014503 UTP20 EXON Missense_G1666R exm1029988 12 101748611 [T/C] NM_014503 UTP20 EXON Synonymous_N1703N exm1029996 12 101748807 [A/G] NM_014503 UTP20 EXON Missense_K1769E exm1030001 12 101750386 [A/G] NM_014503 UTP20 EXON Missense_E1817K exm1030010 12 101750814 [T/A] NM_014503 UTP20 EXON Missense_L1882Q exm-rs10507130 12 101753954 [A/G] NM_014503 UTP20 Silent exm1030015 12 101755761 [A/G] NM_014503 UTP20 EXON Missense_V1905I exm1030021 12 101757355 [T/C] NM_014503 UTP20 EXON Missense_I1931T exm1030022 12 101757364 [A/G] NM_014503 UTP20 EXON Missense_H1934R exm1030027 12 101757498 [A/G] NM_014503 UTP20 EXON Missense_K1979E exm1030029 12 101757517 [A/G] NM_014503 UTP20 EXON Missense_K1985R exm1030032 12 101759247 [A/C] NM_014503 UTP20 EXON Missense_N1990T exm1030033 12 101759271 [A/G] NM_014503 UTP20 EXON Missense_R1998Q exm2219729 12 101760353 [T/C] NM_014503 UTP20 EXON Missense_A2048V exm1030042 12 101760476 [A/G] NM_014503 UTP20 EXON Missense_R2089Q exm2267465 12 101761561 [A/G] NM_014503 UTP20 Silent exm1030045 12 101761725 [A/G] NM_014503 UTP20 EXON Missense_I2119V exm1030046 12 101761753 [A/G] NM_014503 UTP20 EXON Missense_K2128R exm1030052 12 101763545 [T/C] NM_014503 UTP20 EXON Missense_P2144L exm1030056 12 101763605 [A/G] NM_014503 UTP20 EXON Missense_K2164R exm1030059 12 101763631 [A/G] NM_014503 UTP20 EXON Missense_R2173G exm1030061 12 101763659 [A/G] NM_014503 UTP20 EXON Missense_N2182S exm1030078 12 101767226 [A/G] NM_014503 UTP20 EXON Missense_Y2309C exm1030093 12 101773158 [A/G] NM_014503 UTP20 EXON Missense_H2469R exm1030113 12 101776996 [C/G] NM_014503 UTP20 EXON Missense_E2612Q exm1030116 12 101777002 [A/G] NM_014503 UTP20 EXON Missense_G2614S exm1030117 12 101777009 [T/C] NM_014503 UTP20 EXON Missense_P2616L exm1030123 12 101777351 [A/G] NM_014503 UTP20 EXON Missense_V2654I exm1030124 12 101777370 [T/C] NM_014503 UTP20 EXON Missense_I2660T exm1030125 12 101777396 [A/G] NM_014503 UTP20 EXON Missense_M2669V exm1030129 12 101779394 [T/C] NM_014503 UTP20 EXON Missense_I2697T exm1030139 12 101779896 [G/C] NM_014503 UTP20 EXON Missense_E2785Q exm1030146 12 101790275 [T/C] NM_001177 ARL1 EXON Missense_M139I exm1030158 12 101873392 [T/C] NM_152323 SPIC EXON Missense_S43L exm1030161 12 101876596 [A/T] NM_152323 SPIC EXON Missense_R79W exm1030164 12 101876659 [C/G] NM_152323 SPIC EXON Missense_P100A exm1030166 12 101876668 [T/G] NM_152323 SPIC EXON Missense_G103W exm1030168 12 101880150 [T/C] NM_152323 SPIC EXON Missense_P116S exm1030171 12 101880288 [A/G] NM_152323 SPIC EXON Missense_D162N exm1030181 12 102008303 [T/C] NM_001254720,NM_001254719,NM_002465,NM_001254718,NM_001254723,NM_001254722,NM_206819,NM_206821,NM_001254721,NM_206820 MYBPC1,MYBPC1,MYBPC1,MYBPC1,MYBPC1,MYBPC1,MYBPC1,MYBPC1,MYBPC1,MYBPC1 EXON Silent,Missense_P19S,Missense_P19S,Missense_P19S,Silent,Silent,Missense_P19S,Missense_P19S,Missense_P19S,Missense_P19S exm1030184 12 102011003 [A/G] NM_001254720,NM_001254719,NM_002465,NM_001254718,NM_001254723,NM_001254722,NM_206819,NM_206821,NM_001254721,NM_206820 MYBPC1,MYBPC1,MYBPC1,MYBPC1,MYBPC1,MYBPC1,MYBPC1,MYBPC1,MYBPC1,MYBPC1 EXON Missense_G17R,Missense_G29R,Missense_G29R,Missense_G29R,Silent,Silent,Missense_G29R,Missense_G29R,Missense_G29R,Missense_G29R exm1030194 12 102023224 [T/C] NM_001254720,NM_001254719,NM_002465,NM_001254718,NM_001254723,NM_001254722,NM_206819,NM_206821,NM_001254721,NM_206820 MYBPC1,MYBPC1,MYBPC1,MYBPC1,MYBPC1,MYBPC1,MYBPC1,MYBPC1,MYBPC1,MYBPC1 EXON Missense_V27A,Missense_V39A,Missense_V64A,Missense_V39A,Missense_V26A,Missense_V13A,Missense_V64A,Missense_V39A,Missense_V39A,Missense_V39A exm1030210 12 102025915 [T/C] NM_001254720,NM_001254719,NM_002465,NM_001254718,NM_001254723,NM_001254722,NM_206819,NM_206821,NM_001254721,NM_206820 MYBPC1,MYBPC1,MYBPC1,MYBPC1,MYBPC1,MYBPC1,MYBPC1,MYBPC1,MYBPC1,MYBPC1 EXON Synonymous_H148H,Synonymous_H160H,Synonymous_H185H,Synonymous_H160H,Synonymous_H147H,Synonymous_H134H,Synonymous_H185H,Synonymous_H160H,Synonymous_H160H,Synonymous_H160H exm1030230 12 102040659 [A/G] NM_001254720,NM_001254719,NM_002465,NM_001254718,NM_001254723,NM_001254722,NM_206819,NM_206821,NM_001254721,NM_206820 MYBPC1,MYBPC1,MYBPC1,MYBPC1,MYBPC1,MYBPC1,MYBPC1,MYBPC1,MYBPC1,MYBPC1 EXON Missense_V325I,Missense_V337I,Missense_V362I,Missense_V337I,Missense_V324I,Missense_V311I,Missense_V362I,Missense_V337I,Missense_V318I,Missense_V337I exm1030235 12 102043091 [A/G] NM_001254720,NM_001254719,NM_002465,NM_001254718,NM_001254723,NM_001254722,NM_206819,NM_206821,NM_001254721,NM_206820 MYBPC1,MYBPC1,MYBPC1,MYBPC1,MYBPC1,MYBPC1,MYBPC1,MYBPC1,MYBPC1,MYBPC1 EXON Missense_R380K,Missense_R392K,Missense_R417K,Missense_R392K,Missense_R379K,Missense_R366K,Missense_R417K,Missense_R392K,Missense_R373K,Missense_R392K exm1030239 12 102043130 [T/C] NM_001254720,NM_001254719,NM_002465,NM_001254718,NM_001254723,NM_001254722,NM_206819,NM_206821,NM_001254721,NM_206820 MYBPC1,MYBPC1,MYBPC1,MYBPC1,MYBPC1,MYBPC1,MYBPC1,MYBPC1,MYBPC1,MYBPC1 EXON Missense_A393V,Missense_A405V,Missense_A430V,Missense_A405V,Missense_A392V,Missense_A379V,Missense_A430V,Missense_A405V,Missense_A386V,Missense_A405V exm1030246 12 102045102 [A/C] NM_001254720,NM_001254719,NM_002465,NM_001254718,NM_001254723,NM_001254722,NM_206819,NM_206821,NM_001254721,NM_206820 MYBPC1,MYBPC1,MYBPC1,MYBPC1,MYBPC1,MYBPC1,MYBPC1,MYBPC1,MYBPC1,MYBPC1 EXON Missense_P449Q,Missense_P461Q,Missense_P486Q,Missense_P461Q,Missense_P448Q,Missense_P435Q,Missense_P486Q,Missense_P461Q,Missense_P442Q,Missense_P461Q exm1030248 12 102045163 [G/C] NM_001254720,NM_001254719,NM_002465,NM_001254718,NM_001254723,NM_001254722,NM_206819,NM_206821,NM_001254721,NM_206820 MYBPC1,MYBPC1,MYBPC1,MYBPC1,MYBPC1,MYBPC1,MYBPC1,MYBPC1,MYBPC1,MYBPC1 EXON Missense_H469Q,Missense_H481Q,Missense_H506Q,Missense_H481Q,Missense_H468Q,Missense_H455Q,Missense_H506Q,Missense_H481Q,Missense_H462Q,Missense_H481Q exm1030259 12 102047015 [T/C] NM_001254720,NM_001254719,NM_002465,NM_001254718,NM_001254723,NM_001254722,NM_206819,NM_206821,NM_001254721,NM_206820 MYBPC1,MYBPC1,MYBPC1,MYBPC1,MYBPC1,MYBPC1,MYBPC1,MYBPC1,MYBPC1,MYBPC1 EXON Missense_R549W,Missense_R561W,Missense_R586W,Missense_R561W,Missense_R548W,Missense_R535W,Missense_R586W,Missense_R561W,Missense_R542W,Missense_R561W exm1030266 12 102053510 [A/G] NM_001254720,NM_001254719,NM_002465,NM_001254718,NM_001254723,NM_001254722,NM_206819,NM_206821,NM_001254721,NM_206820 MYBPC1,MYBPC1,MYBPC1,MYBPC1,MYBPC1,MYBPC1,MYBPC1,MYBPC1,MYBPC1,MYBPC1 EXON Missense_V573I,Missense_V585I,Missense_V610I,Missense_V585I,Missense_V572I,Missense_V559I,Missense_V610I,Missense_V585I,Missense_V566I,Missense_V585I exm1030273 12 102054954 [T/C] NM_001254720,NM_001254719,NM_002465,NM_001254718,NM_001254723,NM_001254722,NM_206819,NM_206821,NM_001254721,NM_206820 MYBPC1,MYBPC1,MYBPC1,MYBPC1,MYBPC1,MYBPC1,MYBPC1,MYBPC1,MYBPC1,MYBPC1 EXON Missense_V612A,Missense_V624A,Missense_V649A,Missense_V624A,Missense_V611A,Missense_V598A,Missense_V649A,Missense_V624A,Missense_V605A,Missense_V624A exm1030283 12 102057252 [T/C] NM_001254720,NM_001254719,NM_002465,NM_001254718,NM_001254723,NM_001254722,NM_206819,NM_206821,NM_001254721,NM_206820 MYBPC1,MYBPC1,MYBPC1,MYBPC1,MYBPC1,MYBPC1,MYBPC1,MYBPC1,MYBPC1,MYBPC1 EXON Missense_T720M,Missense_T732M,Missense_T757M,Missense_T732M,Missense_T719M,Missense_T706M,Missense_T757M,Missense_T732M,Missense_T713M,Missense_T732M exm2267386 12 102064518 [A/G] NM_001254720,NM_001254719,NM_002465,NM_001254718,NM_001254723,NM_001254722,NM_206819,NM_206821,NM_001254721,NM_206820 MYBPC1,MYBPC1,MYBPC1,MYBPC1,MYBPC1,MYBPC1,MYBPC1,MYBPC1,MYBPC1,MYBPC1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm1030313 12 102069126 [A/G] NM_001254720,NM_001254719,NM_002465,NM_001254718,NM_001254723,NM_001254722,NM_206819,NM_206821,NM_001254721,NM_206820 MYBPC1,MYBPC1,MYBPC1,MYBPC1,MYBPC1,MYBPC1,MYBPC1,MYBPC1,MYBPC1,MYBPC1 EXON Missense_A919T,Missense_A931T,Missense_A956T,Missense_A949T,Missense_A918T,Missense_A905T,Missense_A956T,Missense_A931T,Missense_A912T,Missense_A949T exm1030321 12 102074127 [A/G] NM_001254720,NM_001254719,NM_002465,NM_001254718,NM_001254723,NM_001254722,NM_206819,NM_206821,NM_001254721,NM_206820 MYBPC1,MYBPC1,MYBPC1,MYBPC1,MYBPC1,MYBPC1,MYBPC1,MYBPC1,MYBPC1,MYBPC1 EXON Missense_I1048V,Missense_I1060V,Missense_I1085V,Missense_I1078V,Missense_I1047V,Missense_I1034V,Missense_I1085V,Missense_I1060V,Missense_I1041V,Missense_I1078V exm1030337 12 102091758 [C/G] NM_020244 CHPT1 EXON Missense_S40W exm1030341 12 102091847 [A/G] NM_020244 CHPT1 EXON Missense_G70R exm1030348 12 102107990 [C/G] NM_020244 CHPT1 EXON Missense_D132E exm1030353 12 102108345 [T/C] NM_020244 CHPT1 EXON Missense_F162S exm1030362 12 102110590 [A/G] NM_020244 CHPT1 EXON Synonymous_T216T exm1030374 12 102117558 [T/G] NM_020244 CHPT1 EXON Missense_G333V exm1030376 12 102117581 [T/C] NM_020244 CHPT1 EXON Missense_F341L exm1030380 12 102120099 [T/C] NM_020244 CHPT1 EXON Missense_Y365H exm1030402 12 102131655 [T/C] NM_001177949,NM_001177948,NM_153694 SYCP3,SYCP3,SYCP3 EXON Missense_Q20R,Missense_Q20R,Missense_Q20R exm1030403 12 102131682 [A/T] NM_001177949,NM_001177948,NM_153694 SYCP3,SYCP3,SYCP3 EXON Missense_K11I,Missense_K11I,Missense_K11I exm1030410 12 102141003 [T/C] NM_024312 GNPTAB EXON Missense_R1237Q exm1030416 12 102147154 [T/C] NM_024312 GNPTAB EXON Missense_E1200K exm1030420 12 102147186 [T/C] NM_024312 GNPTAB EXON Missense_R1189Q exm1030426 12 102151014 [T/A] NM_024312 GNPTAB EXON Nonsense_L1137X exm1030436 12 102153860 [A/G] NM_024312 GNPTAB EXON Missense_T1066M exm1030444 12 102155086 [A/G] NM_024312 GNPTAB EXON Missense_V985A exm1750333 12 102155357 [T/C] NM_024312 GNPTAB EXON Missense_Q967R exm1030455 12 102155542 [G/C] NM_024312 GNPTAB Silent exm1030462 12 102158084 [T/C] NM_024312 GNPTAB EXON Missense_G871S exm1030464 12 102158113 [T/C] NM_024312 GNPTAB EXON Missense_R861K exm1030481 12 102158735 [T/C] NM_024312 GNPTAB EXON Missense_S654G exm1030484 12 102158764 [A/G] NM_024312 GNPTAB EXON Missense_T644I exm1030486 12 102158833 [T/C] NM_024312 GNPTAB EXON Missense_N621S exm1030488 12 102158869 [T/G] NM_024312 GNPTAB EXON Missense_T609N exm1030495 12 102158945 [T/G] NM_024312 GNPTAB EXON Missense_P584T exm1030500 12 102159033 [T/G] NM_024312 GNPTAB EXON Missense_H554Q exm1030511 12 102160048 [A/G] NM_024312 GNPTAB EXON Missense_I478T exm1030529 12 102164207 [A/G] NM_024312 GNPTAB EXON Nonsense_R364X exm1030532 12 102164255 [T/G] NM_024312 GNPTAB EXON Missense_I348L exm1030553 12 102179834 [A/G] NM_024312 GNPTAB EXON Missense_P176L exm1030554 12 102179861 [A/T] NM_024312 GNPTAB EXON Missense_I167N exm1030562 12 102182354 [T/C] NM_024312 GNPTAB EXON Missense_K113E exm1030571 12 102190521 [T/C] NM_024312 GNPTAB EXON Missense_R46Q exm1030573 12 102224384 [A/C] NM_024312 GNPTAB EXON Missense_F24V exm2267466 12 102342103 [A/G] exm2250539 12 102368065 [T/C] exm1030616 12 102437959 [T/G] NM_016053 CCDC53 EXON Missense_T83K exm1030618 12 102437991 [C/G] NM_016053 CCDC53 Silent exm1750435 12 102505914 [T/C] NM_024057 NUP37 EXON Missense_R85G exm1030651 12 102505995 [T/C] NM_024057 NUP37 EXON Missense_V58I exm1030655 12 102512140 [T/C] NM_024057 NUP37 Silent exm1030657 12 102512148 [A/G] NM_024057 NUP37 EXON Missense_T50M exm1030658 12 102512169 [T/C] NM_024057 NUP37 EXON Missense_Y43C exm-rs2292303 12 102513531 [G/C] exm1030670 12 102542159 [A/G] NM_017915 PARPBP EXON Missense_S102N exm1030673 12 102542197 [A/G] NM_017915 PARPBP EXON Missense_R115G exm1030674 12 102542200 [T/G] NM_017915 PARPBP EXON Missense_A116S exm1030681 12 102547741 [A/G] NM_017915 PARPBP EXON Missense_R161H exm1030684 12 102558304 [A/G] NM_017915 PARPBP EXON Missense_N195S exm1030685 12 102558369 [A/C] NM_017915 PARPBP EXON Missense_Q217K exm1030687 12 102559508 [T/C] NM_017915 PARPBP EXON Missense_V223A exm1030696 12 102572410 [T/G] NM_017915 PARPBP EXON Missense_G349V exm1030697 12 102572435 [A/T] NM_017915 PARPBP EXON Missense_L357F exm1030707 12 102576340 [A/G] NM_017915 PARPBP EXON Missense_V400M exm1030724 12 102589900 [A/G] NM_017915 PARPBP EXON Missense_N524S exm1030730 12 102589992 [A/G] NM_017915 PARPBP EXON Missense_A555T exm1030732 12 102590450 [A/G] NM_017915,NM_002674 PARPBP,PMCH EXON Silent,Nonsense_R160X exm1030753 12 102591461 [T/C] NM_002674 PMCH EXON Missense_I30V exm-rs1520223 12 102726338 [T/C] exm-rs5742692 12 102799598 [A/G] NM_000618,NM_001111284,NM_001111283 IGF1,IGF1,IGF1 Silent,Silent,Silent exm1030791 12 102813337 [T/C] NM_000618,NM_001111284,NM_001111283,NM_001111285 IGF1,IGF1,IGF1,IGF1 EXON Missense_A118T,Missense_A102T,Missense_A118T,Missense_A118T exm1030792 12 102813346 [T/C] NM_000618,NM_001111284,NM_001111283,NM_001111285 IGF1,IGF1,IGF1,IGF1 EXON Missense_A115T,Missense_A99T,Missense_A115T,Missense_A115T exm1030805 12 102874115 [C/G] NM_000618,NM_001111283,NM_001111285 IGF1,IGF1,IGF1 EXON Missense_C15W,Missense_C15W,Missense_C15W exm-rs35767 12 102875569 [A/G] exm-rs2114912 12 102929003 [T/G] exm2271785 12 103077198 [T/C] exm-rs2172873 12 103125690 [A/G] exm2259944 12 103152029 [A/C] exm1030810 12 103234177 [T/C] NM_000277 PAH Silent exm1030814 12 103234252 [T/C] NM_000277 PAH EXON Missense_Y414C exm1030816 12 103234271 [A/G] NM_000277 PAH EXON Missense_R408W exm1030818 12 103234285 [A/G] NM_000277 PAH EXON Missense_A403V exm1030827 12 103237484 [A/G] NM_000277 PAH EXON Missense_T380M exm1030831 12 103237557 [A/G] NM_000277 PAH EXON Missense_Y356H exm1030845 12 103245479 [A/C] NM_000277 PAH EXON Missense_A300S exm1030854 12 103246615 [T/C] NM_000277 PAH EXON Missense_K274E exm1030858 12 103246653 [T/C] NM_000277 PAH EXON Missense_R261Q exm1030864 12 103246701 [A/G] NM_000277 PAH EXON Missense_V245A exm1030870 12 103248932 [T/C] NM_000277 PAH EXON Missense_V230I exm1030881 12 103260377 [T/C] NM_000277 PAH EXON Missense_R169H exm1030898 12 103288566 [T/C] NM_000277 PAH EXON Missense_H100R exm1030899 12 103288576 [T/G] NM_000277 PAH EXON Missense_I97L exm1030911 12 103306579 [T/C] NM_000277 PAH EXON Missense_R53H exm1030915 12 103306620 [G/C] NM_000277 PAH EXON Missense_F39L exm-rs10745954 12 103483094 [A/G] exm-rs10778213 12 103495151 [T/C] exm1030970 12 103695960 [A/G] NM_001099336,NM_198521 C12orf42,C12orf42 EXON Missense_R337C,Missense_R337C exm1030986 12 103696124 [A/G] NM_001099336,NM_198521 C12orf42,C12orf42 EXON Missense_P282L,Missense_P282L exm1030988 12 103696182 [T/G] NM_001099336,NM_198521 C12orf42,C12orf42 EXON Missense_S263R,Missense_S263R exm1030996 12 103699947 [A/C] NM_001099336,NM_198521 C12orf42,C12orf42 EXON Missense_A146S,Missense_A146S exm1031001 12 103700004 [A/G] NM_001099336,NM_198521 C12orf42,C12orf42 EXON Missense_F127L,Missense_F127L exm1031004 12 103762687 [A/C] NM_001099336,NM_198521 C12orf42,C12orf42 EXON Missense_S79R,Missense_S79R exm1031007 12 103762754 [A/G] NM_001099336,NM_198521 C12orf42,C12orf42 EXON Missense_T57I,Missense_T57I exm1031009 12 103795425 [T/C] NM_001099336,NM_198521 C12orf42,C12orf42 EXON Missense_S36N,Missense_S36N exm1031011 12 103872168 [A/C] NM_001099336,NM_198521 C12orf42,C12orf42 EXON Nonsense_E13X,Nonsense_E13X exm1031012 12 103872172 [T/G] NM_001099336,NM_198521 C12orf42,C12orf42 EXON Missense_E11D,Missense_E11D exm1031013 12 103872176 [T/C] NM_001099336,NM_198521 C12orf42,C12orf42 EXON Missense_R10K,Missense_R10K exm1031016 12 103981288 [A/G] NM_017564 STAB2 EXON Missense_G12R exm1031033 12 103988267 [T/C] NM_017564 STAB2 EXON Missense_R104C exm1031034 12 103988268 [A/G] NM_017564 STAB2 EXON Missense_R104H exm1750613 12 103988273 [C/G] NM_017564 STAB2 EXON Missense_G106R exm1750615 12 103988285 [A/G] NM_017564 STAB2 EXON Missense_I110V exm1031038 12 104014294 [T/C] NM_017564 STAB2 EXON Missense_A127V exm2267387 12 104022179 [A/G] NM_017564 STAB2 Silent exm1031042 12 104025420 [A/G] NM_017564 STAB2 EXON Missense_D178N exm1031044 12 104025472 [A/G] NM_017564 STAB2 Silent exm1031050 12 104030960 [A/C] NM_017564 STAB2 EXON Missense_K219Q exm1031053 12 104031014 [T/C] NM_017564 STAB2 EXON Missense_P237S exm1031056 12 104031811 [T/C] NM_017564 STAB2 EXON Nonsense_R243X exm1031057 12 104031812 [A/G] NM_017564 STAB2 EXON Missense_R243Q exm1031060 12 104031842 [T/C] NM_017564 STAB2 EXON Missense_T253M exm1750636 12 104033953 [A/G] NM_017564 STAB2 EXON Missense_C320Y exm1031085 12 104042529 [T/C] NM_017564 STAB2 EXON Nonsense_R368X exm1031086 12 104042530 [A/G] NM_017564 STAB2 EXON Missense_R368Q exm1031093 12 104046355 [A/G] NM_017564 STAB2 EXON Missense_N427D exm1031094 12 104046371 [A/C] NM_017564 STAB2 EXON Missense_Y432S exm1031103 12 104048446 [T/G] NM_017564 STAB2 EXON Missense_K507N exm1031104 12 104048454 [A/C] NM_017564 STAB2 EXON Missense_P510H exm1031119 12 104054146 [A/T] NM_017564 STAB2 EXON Missense_I591N exm1031123 12 104054503 [A/G] NM_017564 STAB2 EXON Missense_M611V exm1031130 12 104056681 [A/G] NM_017564 STAB2 EXON Missense_G643S exm1031133 12 104060070 [A/G] NM_017564 STAB2 EXON Missense_G675D exm1750675 12 104064489 [A/G] NM_017564 STAB2 EXON Missense_G759S exm1031159 12 104067762 [A/G] NM_017564 STAB2 EXON Missense_G817S exm1031167 12 104069714 [C/G] NM_017564 STAB2 EXON Missense_C854S exm1031172 12 104069795 [A/G] NM_017564 STAB2 EXON Missense_R881H exm1031173 12 104071253 [T/C] NM_017564 STAB2 EXON Missense_T890M exm1031176 12 104071270 [A/G] NM_017564 STAB2 EXON Missense_V896M exm1031184 12 104076999 [A/G] NM_017564 STAB2 EXON Missense_K941R exm1031197 12 104081964 [A/G] NM_017564 STAB2 EXON Missense_E1006K exm1031198 12 104081983 [T/G] NM_017564 STAB2 EXON Missense_R1012L exm1031202 12 104083681 [T/C] NM_017564 STAB2 EXON Missense_S1035P exm1031225 12 104089380 [A/G] NM_017564 STAB2 EXON Missense_R1143Q exm1031227 12 104089412 [T/C] NM_017564 STAB2 EXON Missense_R1154W exm1750714 12 104089548 [A/G] NM_017564 STAB2 EXON Missense_D1170N exm1031232 12 104089554 [T/C] NM_017564 STAB2 EXON Missense_Y1172H exm1031237 12 104092883 [A/G] NM_017564 STAB2 EXON Missense_V1198I exm1031238 12 104092889 [T/C] NM_017564 STAB2 EXON Missense_R1200W exm1031255 12 104098352 [T/G] NM_017564 STAB2 EXON Missense_C1287F exm1031262 12 104099458 [T/C] NM_017564 STAB2 EXON Nonsense_R1317X exm1031263 12 104099498 [A/C] NM_017564 STAB2 EXON Missense_T1330N exm1031266 12 104100571 [T/C] NM_017564 STAB2 EXON Missense_T1333M exm1031269 12 104100588 [A/G] NM_017564 STAB2 EXON Missense_G1339S exm1031278 12 104100717 [A/G] NM_017564 STAB2 EXON Missense_A1382T exm1031280 12 104100735 [A/G] NM_017564 STAB2 EXON Missense_E1388K exm1031286 12 104102259 [T/G] NM_017564 STAB2 EXON Missense_L1411F exm2271864 12 104102503 [T/C] NM_017564 STAB2 Silent exm1031301 12 104106201 [A/G] NM_017564 STAB2 EXON Missense_G1464E exm1031303 12 104106215 [T/C] NM_017564 STAB2 EXON Missense_C1469R exm1031322 12 104109666 [C/G] NM_017564 STAB2 EXON Missense_Q1537H exm1031324 12 104111548 [C/G] NM_017564 STAB2 EXON Missense_A1538P exm1750735 12 104111587 [A/G] NM_017564 STAB2 EXON Missense_K1551E exm1031336 12 104118858 [A/G] NM_017564 STAB2 EXON Missense_G1597S exm1031348 12 104122684 [A/G] NM_017564 STAB2 EXON Missense_A1665T exm1031351 12 104122729 [C/G] NM_017564 STAB2 EXON Missense_A1680P exm1031360 12 104124018 [A/C] NM_017564 STAB2 EXON Missense_N1736T exm1031364 12 104126811 [A/G] NM_017564 STAB2 EXON Missense_D1771N exm1031370 12 104126925 [G/C] NM_017564 STAB2 EXON Missense_E1809Q exm1031372 12 104126948 [A/G] NM_017564 STAB2 EXON Missense_I1816M exm1031373 12 104126950 [A/G] NM_017564 STAB2 EXON Missense_R1817Q exm1031386 12 104131427 [A/C] NM_017564 STAB2 EXON Missense_N1856H exm1031391 12 104131527 [A/G] NM_017564 STAB2 EXON Missense_R1889H exm1031397 12 104134418 [A/G] NM_017564 STAB2 EXON Missense_Q1922R exm1031401 12 104134472 [A/G] NM_017564 STAB2 EXON Missense_R1940Q exm1031406 12 104136203 [A/G] NM_017564 STAB2 EXON Missense_A1968T exm1031411 12 104136288 [T/C] NM_017564 STAB2 EXON Missense_A1996V exm1031416 12 104136332 [A/C] NM_017564 STAB2 EXON Missense_P2011T exm1031420 12 104138971 [A/G] NM_017564 STAB2 EXON Missense_G2018R exm1031423 12 104138980 [A/G] NM_017564 STAB2 EXON Missense_D2021N exm1031426 12 104139020 [T/C] NM_017564 STAB2 EXON Missense_T2034M exm1031429 12 104139034 [A/C] NM_017564 STAB2 EXON Missense_P2039T exm1031437 12 104140470 [A/G] NM_017564 STAB2 EXON Missense_I2078V exm1031444 12 104142863 [A/G] NM_017564 STAB2 EXON Missense_E2123K exm1031453 12 104142933 [T/C] NM_017564 STAB2 EXON Missense_P2146L exm1031454 12 104144393 [A/G] NM_017564 STAB2 EXON Missense_G2159R exm1031457 12 104144426 [T/C] NM_017564 STAB2 EXON Missense_P2170S exm2276267 12 104147083 [A/C] NM_017564 STAB2 EXON Missense_N2222K exm1031491 12 104152932 [A/G] NM_017564 STAB2 EXON Missense_E2377K exm1031497 12 104152999 [T/C] NM_017564 STAB2 EXON Missense_T2399M exm1031498 12 104153004 [G/C] NM_017564 STAB2 EXON Missense_L2401V exm2250543 12 104153006 [T/G] NM_017564 STAB2 EXON Synonymous_L2401L exm1031501 12 104153051 [A/G] NM_017564 STAB2 EXON Synonymous_P2416P exm1031504 12 104155174 [T/C] NM_017564 STAB2 EXON Missense_P2449S exm1750826 12 104155177 [T/C] NM_017564 STAB2 EXON Missense_P2450S exm1031507 12 104156059 [A/C] NM_017564 STAB2 EXON Missense_T2456N exm1031511 12 104156142 [T/C] NM_017564 STAB2 EXON Missense_R2484W exm1031514 12 104156163 [A/G] NM_017564 STAB2 EXON Missense_G2491S exm1031526 12 104157385 [T/C] NM_017564 STAB2 EXON Missense_T2535M exm1031527 12 104157386 [A/G] NM_017564 STAB2 EXON Synonymous_T2535T exm1031531 12 104160076 [T/C] NM_017564 STAB2 EXON Missense_R2540W exm1031539 12 104171654 [A/G] NM_001031701 NT5DC3 EXON Missense_P534S exm1750839 12 104174131 [A/C] NM_001031701 NT5DC3 EXON Missense_D447E exm1031565 12 104181258 [T/G] NM_001031701 NT5DC3 EXON Missense_R383S exm1031576 12 104187260 [T/C] NM_001031701 NT5DC3 EXON Missense_R282H exm1031579 12 104187732 [T/G] NM_001031701 NT5DC3 EXON Missense_A266E exm1031580 12 104187741 [A/G] NM_001031701 NT5DC3 EXON Missense_M263T exm-rs4964805 12 104192824 [G/C] NM_001031701 NT5DC3 Silent exm-rs2251979 12 104253514 [A/G] NR_027249 GNN Silent exm1031621 12 104324309 [T/G] NM_003299,NR_037425 HSP90B1,MIR3652 EXON Missense_V6L,Silent exm1031649 12 104332139 [A/G] NM_003299 HSP90B1 EXON Missense_M293V exm1031652 12 104332224 [T/C] NM_003299 HSP90B1 EXON Missense_P321L exm1031679 12 104337093 [A/C] NM_003299 HSP90B1 EXON Missense_D629A exm1031709 12 104345326 [A/C] NM_001135570 C12orf73 EXON Missense_V64G exm1031710 12 104345384 [A/G] NM_001135570 C12orf73 EXON Missense_R45C exm1031712 12 104350408 [T/C] NM_001135570 C12orf73 Silent exm1031713 12 104350450 [A/C] NM_001135570 C12orf73 EXON Missense_A23S exm2271787 12 104354173 [T/C] exm1031724 12 104370728 [T/C] NM_003211 TDG EXON Missense_T19M exm1031747 12 104376624 [A/G] NM_003211 TDG EXON Missense_M176V exm1031753 12 104376693 [A/G] NM_003211 TDG EXON Missense_G199S exm1031754 12 104376700 [A/C] NM_003211 TDG EXON Missense_K201T exm1031769 12 104378656 [A/G] NM_003211 TDG EXON Missense_V308I exm1031774 12 104379422 [T/C] NM_003211 TDG EXON Missense_P336S exm1031783 12 104380734 [A/G] NM_003211 TDG EXON Missense_V367M exm1031785 12 104380824 [A/C] NM_003211 TDG EXON Missense_N397H exm1031794 12 104387233 [T/C] NM_031302 GLT8D2 EXON Missense_M273V exm1031807 12 104388252 [A/G] NM_031302 GLT8D2 EXON Missense_R210W exm1031812 12 104390577 [A/G] NM_031302 GLT8D2 EXON Missense_A179V exm1031821 12 104391275 [T/G] NM_031302 GLT8D2 EXON Missense_H147Q exm1031822 12 104391309 [T/G] NM_031302 GLT8D2 EXON Missense_N136T exm1031825 12 104393200 [A/G] NM_031302 GLT8D2 EXON Missense_S126L exm1031826 12 104393207 [A/G] NM_031302 GLT8D2 EXON Missense_P124S exm1031835 12 104397073 [T/C] NM_031302 GLT8D2 EXON Missense_E42K exm1031836 12 104397075 [A/G] NM_031302 GLT8D2 EXON Missense_S41F exm1031838 12 104408794 [T/C] NM_031302 GLT8D2 EXON Missense_A37T exm1031841 12 104408832 [T/C] NM_031302 GLT8D2 EXON Missense_Y24C exm1031842 12 104408838 [A/G] NM_031302 GLT8D2 EXON Missense_I22T exm1031843 12 104408854 [T/C] NM_031302 GLT8D2 EXON Missense_V17M exm1031860 12 104461767 [T/C] NM_013320 HCFC2 EXON Missense_P119S exm1750978 12 104473257 [G/C] NM_013320 HCFC2 EXON Missense_H170D exm1031870 12 104476313 [G/C] NM_013320 HCFC2 EXON Missense_G268A exm1031886 12 104487178 [A/G] NM_013320 HCFC2 EXON Missense_I433M exm1031887 12 104487183 [A/G] NM_013320 HCFC2 EXON Missense_S435N exm1031912 12 104496896 [A/G] NM_013320 HCFC2 EXON Missense_I742V exm2250545 12 104520015 [T/C] NM_006166 NFYB EXON Synonymous_E36E exm1031934 12 104522217 [T/A] NM_006166 NFYB EXON Missense_I29L exm1031940 12 104609594 [A/G] NM_001093771 TXNRD1 EXON Missense_E5G exm1031941 12 104609596 [A/G] NM_001093771 TXNRD1 EXON Missense_G6S exm1031947 12 104645380 [C/G] NM_001093771 TXNRD1 EXON Missense_R56T exm2250546 12 104645405 [T/C] NM_001093771 TXNRD1 EXON Synonymous_D64D exm1031949 12 104645405 [T/C] NM_001093771 TXNRD1 EXON Synonymous_D64D exm1031957 12 104682714 [A/G] NM_001093771,NM_182742,NM_182743,NM_001261446,NM_001261445,NM_003330,NM_182729 TXNRD1,TXNRD1,TXNRD1,TXNRD1,TXNRD1,TXNRD1,TXNRD1 EXON Missense_G104S,Silent,Silent,Silent,Missense_G4S,Missense_G6S,Silent exm1031964 12 104697765 [T/C] NM_001093771,NM_182742,NM_182743,NM_001261446,NM_001261445,NM_003330,NM_182729,NM_001008394 TXNRD1,TXNRD1,TXNRD1,TXNRD1,TXNRD1,TXNRD1,TXNRD1,EID3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_S18F exm1031965 12 104697775 [T/C] NM_001093771,NM_182742,NM_182743,NM_001261446,NM_001261445,NM_003330,NM_182729,NM_001008394 TXNRD1,TXNRD1,TXNRD1,TXNRD1,TXNRD1,TXNRD1,TXNRD1,EID3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Synonymous_A21A exm1031967 12 104697779 [T/G] NM_001093771,NM_182742,NM_182743,NM_001261446,NM_001261445,NM_003330,NM_182729,NM_001008394 TXNRD1,TXNRD1,TXNRD1,TXNRD1,TXNRD1,TXNRD1,TXNRD1,EID3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_V23L exm1031969 12 104697785 [T/C] NM_001093771,NM_182742,NM_182743,NM_001261446,NM_001261445,NM_003330,NM_182729,NM_001008394 TXNRD1,TXNRD1,TXNRD1,TXNRD1,TXNRD1,TXNRD1,TXNRD1,EID3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_P25S exm1031972 12 104697857 [T/C] NM_001093771,NM_182742,NM_182743,NM_001261446,NM_001261445,NM_003330,NM_182729,NM_001008394 TXNRD1,TXNRD1,TXNRD1,TXNRD1,TXNRD1,TXNRD1,TXNRD1,EID3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_Y49H exm1031976 12 104697926 [A/G] NM_001093771,NM_182742,NM_182743,NM_001261446,NM_001261445,NM_003330,NM_182729,NM_001008394 TXNRD1,TXNRD1,TXNRD1,TXNRD1,TXNRD1,TXNRD1,TXNRD1,EID3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_E72K exm1031977 12 104697927 [T/A] NM_001093771,NM_182742,NM_182743,NM_001261446,NM_001261445,NM_003330,NM_182729,NM_001008394 TXNRD1,TXNRD1,TXNRD1,TXNRD1,TXNRD1,TXNRD1,TXNRD1,EID3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_E72V exm1031996 12 104698437 [A/G] NM_001093771,NM_182742,NM_182743,NM_001261446,NM_001261445,NM_003330,NM_182729,NM_001008394 TXNRD1,TXNRD1,TXNRD1,TXNRD1,TXNRD1,TXNRD1,TXNRD1,EID3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_Y242C exm1031998 12 104698483 [A/G] NM_001093771,NM_182742,NM_182743,NM_001261446,NM_001261445,NM_003330,NM_182729,NM_001008394 TXNRD1,TXNRD1,TXNRD1,TXNRD1,TXNRD1,TXNRD1,TXNRD1,EID3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Synonymous_E257E exm1031999 12 104698487 [A/G] NM_001093771,NM_182742,NM_182743,NM_001261446,NM_001261445,NM_003330,NM_182729,NM_001008394 TXNRD1,TXNRD1,TXNRD1,TXNRD1,TXNRD1,TXNRD1,TXNRD1,EID3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_I259V exm1032016 12 104705129 [A/C] NM_001093771,NM_182742,NM_182743,NM_001261446,NM_001261445,NM_003330,NM_182729 TXNRD1,TXNRD1,TXNRD1,TXNRD1,TXNRD1,TXNRD1,TXNRD1 EXON Missense_K159T,Missense_K9T,Missense_K9T,Silent,Missense_K59T,Missense_K61T,Missense_K9T exm1032021 12 104707047 [A/G] NM_001093771,NM_182742,NM_182743,NM_001261446,NM_001261445,NM_003330,NM_182729 TXNRD1,TXNRD1,TXNRD1,TXNRD1,TXNRD1,TXNRD1,TXNRD1 EXON Missense_V188M,Missense_V38M,Missense_V38M,Silent,Missense_V88M,Missense_V90M,Missense_V38M exm1032028 12 104709640 [C/G] NM_001093771,NM_182742,NM_182743,NM_001261446,NM_001261445,NM_003330,NM_182729 TXNRD1,TXNRD1,TXNRD1,TXNRD1,TXNRD1,TXNRD1,TXNRD1 EXON Missense_D232E,Missense_D82E,Missense_D82E,Missense_D44E,Missense_D132E,Missense_D134E,Missense_D82E exm1032030 12 104712753 [A/G] NM_001093771,NM_182742,NM_182743,NM_001261446,NM_001261445,NM_003330,NM_182729 TXNRD1,TXNRD1,TXNRD1,TXNRD1,TXNRD1,TXNRD1,TXNRD1 EXON Missense_G265S,Missense_G115S,Missense_G115S,Missense_G77S,Missense_G165S,Missense_G167S,Missense_G115S exm1032031 12 104712772 [A/G] NM_001093771,NM_182742,NM_182743,NM_001261446,NM_001261445,NM_003330,NM_182729 TXNRD1,TXNRD1,TXNRD1,TXNRD1,TXNRD1,TXNRD1,TXNRD1 EXON Missense_R271Q,Missense_R121Q,Missense_R121Q,Missense_R83Q,Missense_R171Q,Missense_R173Q,Missense_R121Q exm1032039 12 104714974 [A/C] NM_001093771,NM_182742,NM_182743,NM_001261446,NM_001261445,NM_003330,NM_182729 TXNRD1,TXNRD1,TXNRD1,TXNRD1,TXNRD1,TXNRD1,TXNRD1 EXON Missense_D365E,Missense_D215E,Missense_D215E,Missense_D177E,Missense_D265E,Missense_D267E,Missense_D215E exm1032042 12 104715083 [A/G] NM_001093771,NM_182742,NM_182743,NM_001261446,NM_001261445,NM_003330,NM_182729 TXNRD1,TXNRD1,TXNRD1,TXNRD1,TXNRD1,TXNRD1,TXNRD1 EXON Missense_V402I,Missense_V252I,Missense_V252I,Missense_V214I,Missense_V302I,Missense_V304I,Missense_V252I exm1032046 12 104719163 [G/C] NM_001093771,NM_182742,NM_182743,NM_001261446,NM_001261445,NM_003330,NM_182729 TXNRD1,TXNRD1,TXNRD1,TXNRD1,TXNRD1,TXNRD1,TXNRD1 EXON Missense_Q422E,Missense_Q272E,Missense_Q272E,Missense_Q234E,Missense_Q322E,Missense_Q324E,Missense_Q272E exm1032051 12 104720179 [A/G] NM_001093771,NM_182742,NM_182743,NM_001261446,NM_001261445,NM_003330,NM_182729 TXNRD1,TXNRD1,TXNRD1,TXNRD1,TXNRD1,TXNRD1,TXNRD1 EXON Missense_V455I,Missense_V305I,Missense_V305I,Missense_V267I,Missense_V355I,Missense_V357I,Missense_V305I exm1032079 12 104851306 [T/A] NM_018413,NM_001173982 CHST11,CHST11 EXON Synonymous_P39P,Silent exm-rs12811699 12 105017164 [T/C] NM_018413,NM_001173982 CHST11,CHST11 Silent,Silent exm2250547 12 105038670 [T/G] NM_018413,NM_001173982 CHST11,CHST11 Silent,Silent exm2259950 12 105099408 [T/C] NM_018413,NM_001173982 CHST11,CHST11 Silent,Silent exm1032091 12 105150806 [A/C] NM_018413,NM_001173982 CHST11,CHST11 EXON Missense_T95K,Missense_T90K exm1032094 12 105150838 [A/G] NM_018413,NM_001173982 CHST11,CHST11 EXON Missense_D106N,Missense_D101N exm1032107 12 105151105 [G/C] NM_018413,NM_001173982 CHST11,CHST11 EXON Missense_A195P,Missense_A190P exm1032113 12 105151192 [C/G] NM_018413,NM_001173982 CHST11,CHST11 EXON Missense_A224P,Missense_A219P exm1032120 12 105151387 [A/G] NM_018413,NM_001173982 CHST11,CHST11 EXON Missense_V289I,Missense_V284I exm1032122 12 105151516 [A/G] NM_018413,NM_001173982 CHST11,CHST11 EXON Missense_E332K,Missense_E327K exm1032149 12 105282867 [G/C] NM_032148 SLC41A2 EXON Missense_S275C exm1032152 12 105282949 [T/C] NM_032148 SLC41A2 EXON Missense_A248T exm1032163 12 105321924 [T/C] NM_032148 SLC41A2 EXON Missense_A128T exm1032171 12 105322262 [A/C] NM_032148 SLC41A2 EXON Missense_G15V exm1032176 12 105380152 [A/C] NM_152318 C12orf45 EXON Missense_K8Q exm1032181 12 105380185 [G/C] NM_152318 C12orf45 EXON Missense_D19H exm1032191 12 105385535 [A/G] NM_152318 C12orf45 EXON Missense_N83S exm1032206 12 105388439 [A/G] NM_152318 C12orf45 EXON Missense_V175I exm1032210 12 105418221 [A/G] NR_027752,NM_001034173 ALDH1L2,ALDH1L2 EXON Silent,Missense_T918M exm1032221 12 105424109 [A/G] NR_027752,NM_001034173 ALDH1L2,ALDH1L2 EXON Silent,Nonsense_Q837X exm1032227 12 105425570 [T/C] NR_027752,NM_001034173 ALDH1L2,ALDH1L2 EXON Silent,Missense_G796E exm1032230 12 105425613 [A/G] NR_027752,NM_001034173 ALDH1L2,ALDH1L2 EXON Silent,Missense_Y782H exm1032232 12 105425638 [G/C] NR_027752,NM_001034173 ALDH1L2,ALDH1L2 EXON Silent,Missense_K773N exm1751173 12 105425657 [T/C] NR_027752,NM_001034173 ALDH1L2,ALDH1L2 EXON Silent,Missense_H767R exm1032234 12 105425660 [A/T] NR_027752,NM_001034173 ALDH1L2,ALDH1L2 EXON Silent,Missense_D766V exm1032240 12 105428154 [T/G] NR_027752,NM_001034173 ALDH1L2,ALDH1L2 EXON Silent,Missense_N723T exm1032252 12 105433542 [T/C] NR_027752,NM_001034173 ALDH1L2,ALDH1L2 EXON Silent,Missense_R665H exm1032263 12 105440542 [T/C] NR_027752,NM_001034173 ALDH1L2,ALDH1L2 EXON Silent,Nonsense_W603X exm1032264 12 105440705 [G/C] NR_027752,NM_001034173 ALDH1L2,ALDH1L2 EXON Silent,Missense_L577V exm1032266 12 105440719 [T/C] NR_027752,NM_001034173 ALDH1L2,ALDH1L2 EXON Silent,Missense_R572H exm1032278 12 105445974 [T/C] NR_027752,NM_001034173 ALDH1L2,ALDH1L2 EXON Silent,Missense_A477T exm1032287 12 105451918 [T/C] NR_027752,NM_001034173 ALDH1L2,ALDH1L2 EXON Silent,Missense_G407D exm1032291 12 105454798 [A/T] NR_027752,NM_001034173 ALDH1L2,ALDH1L2 EXON Silent,Missense_D367V exm1032307 12 105456710 [T/C] NR_027752,NM_001034173 ALDH1L2,ALDH1L2 EXON Silent,Missense_V293I exm1032312 12 105456754 [A/G] NR_027752,NM_001034173 ALDH1L2,ALDH1L2 EXON Silent,Missense_P278L exm1032325 12 105460432 [A/G] NR_027752,NM_001034173 ALDH1L2,ALDH1L2 EXON Silent,Missense_L204F exm1032328 12 105462498 [A/G] NR_027752,NM_001034173 ALDH1L2,ALDH1L2 EXON Silent,Missense_M198T exm1032335 12 105464395 [T/A] NR_027752,NM_001034173 ALDH1L2,ALDH1L2 EXON Silent,Nonsense_Y127X exm1032341 12 105464517 [T/C] NR_027752,NM_001034173 ALDH1L2,ALDH1L2 EXON Silent,Missense_T87A exm1032347 12 105467693 [A/G] NR_027752,NM_001034173 ALDH1L2,ALDH1L2 EXON Silent,Nonsense_R47X exm1032348 12 105467708 [A/G] NR_027752,NM_001034173 ALDH1L2,ALDH1L2 EXON Silent,Missense_R42C exm1032350 12 105501598 [T/C] NM_015275 KIAA1033 EXON Missense_S7F exm1032354 12 105504953 [T/C] NM_015275 KIAA1033 EXON Missense_Y38H exm1032360 12 105505004 [A/G] NM_015275 KIAA1033 EXON Missense_D55N exm1032361 12 105505020 [A/G] NM_015275 KIAA1033 EXON Missense_N60S exm1032368 12 105509455 [T/G] NM_015275 KIAA1033 EXON Missense_M128I exm1032375 12 105514940 [A/G] NM_015275 KIAA1033 EXON Missense_D208G exm1032376 12 105514973 [T/C] NM_015275 KIAA1033 EXON Missense_M219T exm1032378 12 105515906 [T/C] NM_015275 KIAA1033 EXON Missense_S226P exm1032381 12 105515947 [A/C] NM_015275 KIAA1033 EXON Missense_E239D exm1032385 12 105519861 [T/C] NM_015275 KIAA1033 EXON Missense_A289V exm1032387 12 105519873 [A/G] NM_015275 KIAA1033 EXON Missense_R293Q exm1032394 12 105520069 [T/G] NM_015275 KIAA1033 EXON Missense_V323L exm1032395 12 105520097 [T/C] NM_015275 KIAA1033 EXON Missense_I332T exm1032401 12 105521009 [A/C] NM_015275 KIAA1033 EXON Missense_Q381K exm1751259 12 105531781 [T/C] NM_015275 KIAA1033 EXON Missense_L482F exm1032414 12 105534127 [A/G] NM_015275 KIAA1033 EXON Missense_H503R exm2219765 12 105536238 [A/T] NM_015275 KIAA1033 EXON Missense_T599S exm1032427 12 105536305 [A/G] NM_015275 KIAA1033 EXON Missense_Y621C exm1032437 12 105538213 [A/G] NM_015275 KIAA1033 EXON Missense_N720S exm1032439 12 105538216 [A/G] NM_015275 KIAA1033 EXON Missense_R721H exm1032440 12 105538532 [A/G] NM_015275 KIAA1033 EXON Missense_N739S exm1032449 12 105540875 [A/G] NM_015275 KIAA1033 EXON Missense_H822R exm1032460 12 105546172 [A/G] NM_015275 KIAA1033 EXON Missense_V901I exm1032465 12 105553822 [A/G] NM_015275 KIAA1033 EXON Missense_E986K exm1032469 12 105556534 [A/G] NM_015275 KIAA1033 EXON Missense_N1023S exm1032471 12 105556552 [T/G] NM_015275 KIAA1033 EXON Missense_I1029S exm1032498 12 105568139 [T/C] NM_018171,NM_001251904,NM_001251905 APPL2,APPL2,APPL2 EXON Missense_D650N,Missense_D656N,Missense_D607N exm1032514 12 105582100 [T/C] NM_018171,NM_001251904,NM_001251905 APPL2,APPL2,APPL2 EXON Missense_I529V,Missense_I535V,Missense_I486V exm1032515 12 105582127 [A/C] NM_018171,NM_001251904,NM_001251905 APPL2,APPL2,APPL2 EXON Missense_V520L,Missense_V526L,Missense_V477L exm1032516 12 105582138 [A/G] NM_018171,NM_001251904,NM_001251905 APPL2,APPL2,APPL2 EXON Missense_A516V,Missense_A522V,Missense_A473V exm1032521 12 105583601 [A/G] NM_018171,NM_001251904,NM_001251905 APPL2,APPL2,APPL2 EXON Missense_R470C,Missense_R476C,Missense_R427C exm1032527 12 105583841 [A/G] NM_018171,NM_001251904,NM_001251905 APPL2,APPL2,APPL2 EXON Missense_A445V,Missense_A451V,Missense_A402V exm1032530 12 105583877 [A/G] NM_018171,NM_001251904,NM_001251905 APPL2,APPL2,APPL2 EXON Missense_A433V,Missense_A439V,Missense_A390V exm1751311 12 105583880 [T/C] NM_018171,NM_001251904,NM_001251905 APPL2,APPL2,APPL2 EXON Missense_K432R,Missense_K438R,Missense_K389R exm1032532 12 105589051 [G/C] NM_018171,NM_001251904,NM_001251905 APPL2,APPL2,APPL2 EXON Missense_S410T,Missense_S416T,Missense_S367T exm1032541 12 105589384 [G/C] NM_018171,NM_001251904,NM_001251905 APPL2,APPL2,APPL2 EXON Missense_E358D,Missense_E364D,Missense_E315D exm1032546 12 105591553 [T/C] NM_018171,NM_001251904,NM_001251905 APPL2,APPL2,APPL2 EXON Missense_N348D,Missense_N354D,Missense_N305D exm1032549 12 105591579 [T/C] NM_018171,NM_001251904,NM_001251905 APPL2,APPL2,APPL2 EXON Missense_R339H,Missense_R345H,Missense_R296H exm1032555 12 105591603 [A/G] NM_018171,NM_001251904,NM_001251905 APPL2,APPL2,APPL2 EXON Missense_M331T,Missense_M337T,Missense_M288T exm1032564 12 105593205 [A/G] NM_018171,NM_001251904,NM_001251905 APPL2,APPL2,APPL2 EXON Missense_A270V,Missense_A276V,Missense_A227V exm1032575 12 105600846 [T/C] NM_018171,NM_001251904,NM_001251905 APPL2,APPL2,APPL2 EXON Missense_H205R,Missense_H211R,Missense_H162R exm1032577 12 105600900 [A/G] NM_018171,NM_001251904,NM_001251905 APPL2,APPL2,APPL2 EXON Missense_A187V,Missense_A193V,Missense_A144V exm1032584 12 105600970 [T/C] NM_018171,NM_001251904,NM_001251905 APPL2,APPL2,APPL2 EXON Missense_G164R,Missense_G170R,Missense_G121R exm1032591 12 105601945 [T/C] NM_018171,NM_001251904,NM_001251905 APPL2,APPL2,APPL2 EXON Missense_A136T,Missense_A136T,Missense_A93T exm1032594 12 105605008 [T/C] NM_018171,NM_001251904,NM_001251905 APPL2,APPL2,APPL2 EXON Missense_E125K,Missense_E125K,Missense_E82K exm1032595 12 105605026 [A/G] NM_018171,NM_001251904,NM_001251905 APPL2,APPL2,APPL2 EXON Nonsense_R119X,Nonsense_R119X,Nonsense_R76X exm2267388 12 105606172 [A/G] NM_018171,NM_001251904,NM_001251905 APPL2,APPL2,APPL2 Silent,Silent,Silent exm1032597 12 105611448 [T/C] NM_018171,NM_001251904,NM_001251905 APPL2,APPL2,APPL2 EXON Missense_K70R,Missense_K70R,Missense_K27R exm1032601 12 105622913 [T/C] NM_018171,NM_001251904,NM_001251905 APPL2,APPL2,APPL2 EXON Missense_Y48C,Missense_Y48C,Missense_Y5C exm2271789 12 106332840 [T/C] exm1032637 12 106460681 [A/G] NM_014840 NUAK1 EXON Missense_R629W exm1032643 12 106460762 [T/C] NM_014840 NUAK1 EXON Missense_V602I exm1032648 12 106460777 [A/G] NM_014840 NUAK1 EXON Missense_R597C exm1032649 12 106460782 [A/C] NM_014840 NUAK1 EXON Missense_R595L exm1032651 12 106460791 [T/C] NM_014840 NUAK1 EXON Missense_R592H exm1032658 12 106460938 [C/G] NM_014840 NUAK1 EXON Missense_P543R exm1032661 12 106461007 [T/C] NM_014840 NUAK1 EXON Missense_R520Q exm1751451 12 106461103 [A/G] NM_014840 NUAK1 EXON Missense_S488L exm1032672 12 106461115 [T/C] NM_014840 NUAK1 EXON Missense_R484H exm1032683 12 106461301 [A/C] NM_014840 NUAK1 EXON Missense_G422V exm1032690 12 106461475 [T/C] NM_014840 NUAK1 EXON Missense_R364Q exm1032691 12 106461476 [A/G] NM_014840 NUAK1 EXON Missense_R364W exm2259952 12 106507724 [A/G] NM_014840 NUAK1 Silent exm1032739 12 106632873 [A/C] NM_006825 CKAP4 EXON Missense_L580V exm1032740 12 106632875 [T/C] NM_006825 CKAP4 EXON Missense_G579D exm1032756 12 106633163 [T/C] NM_006825 CKAP4 EXON Missense_Y483C exm1032757 12 106633178 [A/G] NM_006825 CKAP4 EXON Missense_T478I exm1032769 12 106633365 [T/C] NM_006825 CKAP4 EXON Missense_V416M exm1032773 12 106633430 [T/C] NM_006825 CKAP4 EXON Missense_R394K exm1032782 12 106633479 [A/G] NM_006825 CKAP4 EXON Missense_R378C exm1032785 12 106633517 [T/C] NM_006825 CKAP4 EXON Missense_R365H exm1032786 12 106633518 [A/G] NM_006825 CKAP4 EXON Missense_R365C exm1032787 12 106633521 [T/A] NM_006825 CKAP4 EXON Missense_S364T exm1032789 12 106633569 [T/C] NM_006825 CKAP4 EXON Missense_A348T exm1032806 12 106633886 [A/G] NM_006825 CKAP4 EXON Missense_T242M exm1032811 12 106633934 [T/C] NM_006825 CKAP4 EXON Missense_R226Q exm1032817 12 106634071 [T/C] NM_006825 CKAP4 EXON Synonymous_Q180Q exm2250553 12 106634071 [T/C] NM_006825 CKAP4 EXON Synonymous_Q180Q exm1032834 12 106704948 [T/A] NM_152772 TCP11L2 EXON Missense_D32V exm1032836 12 106704974 [A/G] NM_152772 TCP11L2 EXON Missense_A41T exm1032838 12 106708136 [T/C] NM_152772 TCP11L2 EXON Missense_S53L exm1032843 12 106708222 [T/G] NM_152772 TCP11L2 EXON Missense_A82S exm1032847 12 106708272 [A/G] NM_152772 TCP11L2 Silent exm1032850 12 106712144 [A/C] NM_152772 TCP11L2 EXON Missense_I106L exm1032857 12 106715298 [A/G] NM_152772 TCP11L2 EXON Missense_R150Q exm2250554 12 106715332 [A/G] NM_152772 TCP11L2 EXON Synonymous_T161T exm1032861 12 106715421 [G/C] NM_152772 TCP11L2 EXON Missense_A191G exm1032870 12 106717356 [T/C] NM_152772 TCP11L2 EXON Missense_P235L exm1032875 12 106729425 [A/G] NM_152772 TCP11L2 EXON Missense_D261N exm1032876 12 106729432 [G/C] NM_152772 TCP11L2 EXON Missense_T263S exm1032879 12 106729528 [T/C] NM_152772 TCP11L2 EXON Missense_L295P exm1032880 12 106729562 [T/G] NM_152772 TCP11L2 EXON Missense_L306F exm1751529 12 106729933 [A/G] NM_152772 TCP11L2 EXON Missense_E362K exm1032888 12 106729944 [G/C] NM_152772 TCP11L2 EXON Missense_S365R exm1032889 12 106729979 [T/G] NM_152772 TCP11L2 EXON Missense_G377V exm1032894 12 106734635 [A/G] NM_152772 TCP11L2 EXON Missense_I392V exm1032898 12 106734704 [A/G] NM_152772 TCP11L2 EXON Missense_E415K exm1032899 12 106740069 [T/C] NM_152772 TCP11L2 EXON Nonsense_R441X exm1032909 12 106740246 [T/C] NM_152772 TCP11L2 EXON Nonsense_R500X exm1032912 12 106740267 [A/G] NM_152772 TCP11L2 EXON Missense_E507K exm1032918 12 106751671 [T/C] NM_018082 POLR3B EXON Missense_A5V exm1032947 12 106786858 [A/C] NM_018082,NM_001160708 POLR3B,POLR3B EXON Missense_E258A,Missense_E200A exm1032951 12 106804655 [T/C] NM_018082,NM_001160708 POLR3B,POLR3B EXON Nonsense_R340X,Nonsense_R282X exm1032962 12 106821117 [T/C] NM_018082,NM_001160708 POLR3B,POLR3B EXON Missense_M415T,Missense_M357T exm1032975 12 106826199 [T/A] NM_018082,NM_001160708 POLR3B,POLR3B EXON Missense_V523E,Missense_V465E exm1032981 12 106827571 [A/G] NM_018082,NM_001160708 POLR3B,POLR3B EXON Missense_I568V,Missense_I510V exm1032987 12 106831540 [A/C] NM_018082,NM_001160708 POLR3B,POLR3B EXON Nonsense_Y646X,Nonsense_Y588X exm1032989 12 106838243 [A/T] NM_018082,NM_001160708 POLR3B,POLR3B EXON Missense_D653V,Missense_D595V exm1033000 12 106848414 [A/G] NM_018082,NM_001160708 POLR3B,POLR3B EXON Missense_T740A,Missense_T682A exm1033002 12 106848474 [T/G] NM_018082,NM_001160708 POLR3B,POLR3B EXON Missense_A760S,Missense_A702S exm1033013 12 106853062 [A/G] NM_018082,NM_001160708 POLR3B,POLR3B EXON Missense_N829S,Missense_N771S exm1033018 12 106889846 [T/G] NM_018082,NM_001160708 POLR3B,POLR3B EXON Missense_L909F,Missense_L851F exm1033031 12 106890641 [A/G] NM_018082,NM_001160708,NR_040246 POLR3B,POLR3B,LOC100287944 EXON Missense_V977I,Missense_V919I,Silent exm1033056 12 106903315 [G/C] NM_018082,NM_001160708,NR_040246 POLR3B,POLR3B,LOC100287944 EXON Missense_K1130N,Missense_K1072N,Silent exm-rs4964469 12 106949987 [A/G] NR_040246 LOC100287944 Silent exm-rs3891355 12 106950695 [T/C] NR_040246 LOC100287944 Silent exm2219776 12 107080859 [C/G] NR_040246,NM_213594,NM_001206691,NM_032491 LOC100287944,RFX4,RFX4,RFX4 EXON Silent,Missense_S192T,Missense_S201T,Missense_S98T exm1033100 12 107090161 [C/G] NR_040246,NM_213594,NM_001206691,NM_032491 LOC100287944,RFX4,RFX4,RFX4 EXON Silent,Missense_S257C,Missense_S266C,Missense_S163C exm1033106 12 107105260 [T/C] NR_040246,NM_213594,NM_001206691,NM_032491 LOC100287944,RFX4,RFX4,RFX4 EXON Silent,Missense_R322W,Missense_R331W,Missense_R228W exm2219778 12 107125981 [C/G] NR_040246,NM_213594,NM_001206691,NM_032491 LOC100287944,RFX4,RFX4,RFX4 EXON Silent,Missense_E475D,Missense_E484D,Missense_E381D exm1033125 12 107125982 [T/C] NR_040246,NM_213594,NM_001206691,NM_032491 LOC100287944,RFX4,RFX4,RFX4 EXON Silent,Missense_R476W,Missense_R485W,Missense_R382W exm1033143 12 107141265 [A/G] NR_040246,NM_213594,NM_001206691,NM_032491 LOC100287944,RFX4,RFX4,RFX4 EXON Silent,Missense_A562T,Missense_A571T,Missense_A468T exm1033152 12 107144486 [T/G] NR_040246,NM_213594,NM_001206691,NM_032491 LOC100287944,RFX4,RFX4,RFX4 EXON Silent,Missense_M617R,Missense_M626R,Missense_M523R exm1033153 12 107144501 [C/G] NR_040246,NM_213594,NM_001206691,NM_032491 LOC100287944,RFX4,RFX4,RFX4 EXON Silent,Missense_P622R,Missense_P631R,Missense_P528R exm1033158 12 107155071 [A/G] NR_040246,NM_213594,NM_001206691,NM_032491 LOC100287944,RFX4,RFX4,RFX4 EXON Silent,Missense_V678M,Missense_V687M,Missense_V584M exm1033159 12 107155087 [T/C] NR_040246,NM_213594,NM_001206691,NM_032491 LOC100287944,RFX4,RFX4,RFX4 EXON Silent,Missense_T683M,Missense_T692M,Missense_T589M exm1033160 12 107155117 [T/C] NR_040246,NM_213594,NM_001206691,NM_032491 LOC100287944,RFX4,RFX4,RFX4 EXON Silent,Missense_A693V,Missense_A702V,Missense_A599V exm1033161 12 107155131 [T/G] NR_040246,NM_213594,NM_001206691,NM_032491 LOC100287944,RFX4,RFX4,RFX4 EXON Silent,Missense_S698A,Missense_S707A,Missense_S604A exm1033162 12 107155159 [T/C] NR_040246,NM_213594,NM_001206691,NM_032491 LOC100287944,RFX4,RFX4,RFX4 EXON Silent,Missense_T707M,Missense_T716M,Missense_T613M exm1033163 12 107155162 [A/G] NR_040246,NM_213594,NM_001206691,NM_032491 LOC100287944,RFX4,RFX4,RFX4 EXON Silent,Missense_R708H,Missense_R717H,Missense_R614H exm-rs10861661 12 107174646 [A/C] NM_018157 RIC8B Silent exm1033171 12 107208655 [T/G] NM_018157 RIC8B EXON Missense_L105W exm1033178 12 107208790 [A/G] NM_018157 RIC8B EXON Missense_K150R exm1033186 12 107208919 [T/C] NM_018157 RIC8B EXON Missense_T193M exm1033189 12 107209021 [T/C] NM_018157 RIC8B EXON Missense_A227V exm1033191 12 107209051 [T/C] NM_018157 RIC8B EXON Missense_V237A exm1033197 12 107236516 [A/G] NM_018157 RIC8B EXON Missense_N329S exm2273498 12 107279804 [T/C] NM_018157 RIC8B EXON Silent exm1033218 12 107360920 [A/G] NM_152261 C12orf23 EXON Missense_Q9R exm1033220 12 107360943 [A/G] NM_152261 C12orf23 EXON Missense_D17N exm1033242 12 107371901 [T/C] NM_025198,NM_001033050 MTERFD3,MTERFD3 EXON Missense_V198I,Missense_V198I exm1033247 12 107372111 [G/C] NM_025198,NM_001033050 MTERFD3,MTERFD3 EXON Missense_E128Q,Missense_E128Q exm1033251 12 107372183 [G/C] NM_025198,NM_001033050 MTERFD3,MTERFD3 EXON Missense_A104P,Missense_A104P exm1033255 12 107372269 [A/G] NM_025198,NM_001033050 MTERFD3,MTERFD3 EXON Missense_T75I,Missense_T75I exm1033259 12 107372401 [A/G] NM_025198,NM_001033050 MTERFD3,MTERFD3 EXON Missense_A31V,Missense_A31V exm1033260 12 107372423 [G/C] NM_025198,NM_001033050 MTERFD3,MTERFD3 EXON Missense_P24A,Missense_P24A exm1033261 12 107372453 [C/G] NM_025198,NM_001033050 MTERFD3,MTERFD3 EXON Missense_L14V,Missense_L14V exm1033282 12 107391708 [T/C] NM_004075 CRY1 EXON Missense_N425S exm2271866 12 107466217 [T/C] NM_004075 CRY1 Silent exm2271790 12 107563247 [T/C] exm1033329 12 107712865 [A/G] NM_001018072 BTBD11 EXON Missense_S50G exm1033335 12 107712983 [G/C] NM_001018072 BTBD11 EXON Missense_R89P exm2267468 12 107814757 [A/G] NM_001018072 BTBD11 Silent exm2267390 12 107842206 [A/G] NM_001018072 BTBD11 Silent exm1033369 12 107914392 [A/G] NM_001018072 BTBD11 EXON Missense_V422I exm1033374 12 107937768 [A/G] NM_001018072 BTBD11 EXON Missense_G448S exm1033381 12 107937880 [A/G] NM_001018072 BTBD11 EXON Missense_N485S exm1033389 12 107974744 [A/G] NM_001018072,NM_001017523 BTBD11,BTBD11 EXON Silent,Missense_G21R exm1033401 12 108004106 [A/G] NM_001018072,NM_001017523 BTBD11,BTBD11 EXON Missense_D595N,Missense_D132N exm1033407 12 108008868 [A/G] NM_001018072,NM_001017523 BTBD11,BTBD11 EXON Missense_V644I,Missense_V181I exm1033409 12 108008884 [A/G] NM_001018072,NM_001017523 BTBD11,BTBD11 EXON Missense_R649H,Missense_R186H exm1033414 12 108011111 [A/G] NM_001018072,NM_001017523 BTBD11,BTBD11 EXON Missense_R710H,Missense_R247H exm1033429 12 108012053 [C/G] NM_001018072,NM_001017523 BTBD11,BTBD11 EXON Missense_A784P,Missense_A321P exm1033432 12 108012066 [A/G] NM_001018072,NM_001017523 BTBD11,BTBD11 EXON Missense_S788N,Missense_S325N exm1033438 12 108013765 [A/G] NM_001018072,NM_001017523 BTBD11,BTBD11 EXON Missense_V819I,Missense_V356I exm1033447 12 108013883 [T/C] NM_001018072,NM_001017523 BTBD11,BTBD11 EXON Missense_T858M,Missense_T395M exm1033456 12 108034099 [A/C] NM_001018072,NM_001017523 BTBD11,BTBD11 EXON Missense_L917I,Missense_L454I exm1033457 12 108034148 [A/C] NM_001018072,NM_001017523 BTBD11,BTBD11 EXON Missense_P933Q,Missense_P470Q exm1033464 12 108043042 [G/C] NM_001018072,NM_001017523 BTBD11,BTBD11 EXON Missense_E994D,Missense_E531D exm1033465 12 108043046 [A/G] NM_001018072,NM_001017523 BTBD11,BTBD11 EXON Missense_M996V,Missense_M533V exm1033473 12 108051292 [C/G] NM_001018072,NM_001017523 BTBD11,BTBD11 EXON Missense_G1038R,Missense_G575R exm1033474 12 108051310 [A/G] NM_001018072,NM_001017523 BTBD11,BTBD11 EXON Missense_A1044T,Missense_A581T exm1033479 12 108051406 [A/G] NM_001018072,NM_001017523 BTBD11,BTBD11 EXON Missense_G1076S,Missense_G613S exm1033490 12 108082253 [A/G] NM_007062 PWP1 EXON Missense_R34H exm1033504 12 108086847 [A/G] NM_007062 PWP1 EXON Missense_Q159R exm1033506 12 108090267 [A/C] NM_007062 PWP1 EXON Missense_E173D exm1033533 12 108096762 [T/C] NM_007062 PWP1 EXON Missense_M286T exm1033534 12 108096769 [C/G] NM_007062 PWP1 EXON Missense_L288F exm1033541 12 108098435 [T/C] NM_007062 PWP1 EXON Nonsense_R330X exm1033549 12 108102757 [A/G] NM_007062 PWP1 EXON Missense_I378V exm1033558 12 108104258 [A/G] NM_007062 PWP1 EXON Missense_R456Q exm1033561 12 108105893 [A/G] NM_007062 PWP1 EXON Missense_E468K exm1033562 12 108105908 [T/C] NM_007062 PWP1 EXON Nonsense_R473X exm1033580 12 108128213 [T/C] NM_012406 PRDM4 EXON Missense_K727R exm1033592 12 108134918 [T/A] NM_012406 PRDM4 EXON Missense_S577C exm1033609 12 108140094 [T/G] NM_012406 PRDM4 EXON Missense_K412Q exm1033619 12 108145285 [T/C] NM_012406 PRDM4 EXON Missense_V345I exm1751855 12 108145316 [G/C] NM_012406 PRDM4 EXON Missense_Q334H exm1751857 12 108145411 [A/G] NM_012406 PRDM4 EXON Missense_L303F exm1033626 12 108145426 [A/G] NM_012406 PRDM4 EXON Missense_S298P exm1033630 12 108145471 [T/C] NM_012406 PRDM4 EXON Missense_S283G exm1033631 12 108145485 [T/C] NM_012406 PRDM4 EXON Missense_N278S exm1033639 12 108145758 [C/G] NM_012406 PRDM4 EXON Missense_A187G exm1033643 12 108145860 [T/C] NM_012406 PRDM4 EXON Missense_N153S exm1751866 12 108145914 [T/C] NM_012406 PRDM4 EXON Missense_N135S exm1751873 12 108150743 [A/C] NM_012406 PRDM4 Silent exm1033697 12 108169494 [A/C] NM_203436 ASCL4 EXON Missense_P168T exm2264480 12 108323947 [A/C] exm1033752 12 108589662 [A/G] NM_014653 WSCD2 EXON Missense_R18H exm1033754 12 108589758 [T/C] NM_014653 WSCD2 EXON Missense_A50V exm1033762 12 108589965 [T/C] NM_014653 WSCD2 EXON Missense_V119A exm1033767 12 108600156 [A/G] NM_014653 WSCD2 EXON Missense_R158H exm2250563 12 108602970 [A/C] NM_014653 WSCD2 Silent exm1033775 12 108604000 [C/G] NM_014653 WSCD2 EXON Missense_K200N exm1033780 12 108604071 [T/C] NM_014653 WSCD2 EXON Missense_S224L exm1033783 12 108618546 [A/G] NM_014653 WSCD2 EXON Missense_R238H exm1033785 12 108618567 [A/T] NM_014653 WSCD2 EXON Missense_L245Q exm1033788 12 108618630 [T/C] NM_014653 WSCD2 EXON Missense_T266I exm1033795 12 108620878 [A/G] NM_014653 WSCD2 EXON Missense_A306T exm1033818 12 108641926 [A/G] NM_014653 WSCD2 EXON Missense_V502I exm1033819 12 108641981 [A/G] NM_014653 WSCD2 EXON Missense_R520H exm1033828 12 108685629 [T/C] NM_001142343,NM_004072,NM_001142345,NM_001142344 CMKLR1,CMKLR1,CMKLR1,CMKLR1 EXON Missense_G371S,Missense_G369S,Missense_G371S,Missense_G371S exm1033833 12 108685691 [T/C] NM_001142343,NM_004072,NM_001142345,NM_001142344 CMKLR1,CMKLR1,CMKLR1,CMKLR1 EXON Missense_H350R,Missense_H348R,Missense_H350R,Missense_H350R exm1033836 12 108685706 [A/G] NM_001142343,NM_004072,NM_001142345,NM_001142344 CMKLR1,CMKLR1,CMKLR1,CMKLR1 EXON Missense_S345F,Missense_S343F,Missense_S345F,Missense_S345F exm1033838 12 108685742 [T/C] NM_001142343,NM_004072,NM_001142345,NM_001142344 CMKLR1,CMKLR1,CMKLR1,CMKLR1 EXON Missense_R333H,Missense_R331H,Missense_R333H,Missense_R333H exm1751941 12 108685824 [T/C] NM_001142343,NM_004072,NM_001142345,NM_001142344 CMKLR1,CMKLR1,CMKLR1,CMKLR1 EXON Missense_I306V,Missense_I304V,Missense_I306V,Missense_I306V exm1033843 12 108685873 [A/C] NM_001142343,NM_004072,NM_001142345,NM_001142344 CMKLR1,CMKLR1,CMKLR1,CMKLR1 EXON Missense_M289I,Missense_M287I,Missense_M289I,Missense_M289I exm1033860 12 108686238 [A/T] NM_001142343,NM_004072,NM_001142345,NM_001142344 CMKLR1,CMKLR1,CMKLR1,CMKLR1 EXON Missense_F168I,Missense_F166I,Missense_F168I,Missense_F168I exm1033862 12 108686280 [A/G] NM_001142343,NM_004072,NM_001142345,NM_001142344 CMKLR1,CMKLR1,CMKLR1,CMKLR1 EXON Missense_R154C,Missense_R152C,Missense_R154C,Missense_R154C exm1033864 12 108686316 [A/G] NM_001142343,NM_004072,NM_001142345,NM_001142344 CMKLR1,CMKLR1,CMKLR1,CMKLR1 EXON Missense_L142F,Missense_L140F,Missense_L142F,Missense_L142F exm1033874 12 108686549 [A/G] NM_001142343,NM_004072,NM_001142345,NM_001142344 CMKLR1,CMKLR1,CMKLR1,CMKLR1 EXON Missense_I64T,Missense_I62T,Missense_I64T,Missense_I64T exm1033875 12 108686555 [A/C] NM_001142343,NM_004072,NM_001142345,NM_001142344 CMKLR1,CMKLR1,CMKLR1,CMKLR1 EXON Missense_I62S,Missense_I60S,Missense_I62S,Missense_I62S exm1033881 12 108686631 [T/C] NM_001142343,NM_004072,NM_001142345,NM_001142344 CMKLR1,CMKLR1,CMKLR1,CMKLR1 EXON Missense_R37G,Missense_R35G,Missense_R37G,Missense_R37G exm-rs1878022 12 108699032 [T/C] NM_001142343,NM_004072,NM_001142345,NM_001142344 CMKLR1,CMKLR1,CMKLR1,CMKLR1 Silent,Silent,Silent,Silent exm-rs10861905 12 108767333 [A/C] exm2271867 12 108894909 [T/C] exm1033888 12 108910756 [T/C] NM_007076 FICD EXON Missense_L3F exm1033906 12 108912178 [A/G] NM_007076 FICD EXON Synonymous_A101A exm1033907 12 108912183 [A/G] NM_007076 FICD EXON Missense_K103R exm1033910 12 108912240 [A/G] NM_007076 FICD EXON Missense_R122Q exm1033921 12 108912399 [A/C] NM_007076 FICD EXON Missense_K175T exm1033928 12 108912521 [T/C] NM_007076 FICD EXON Missense_R216C exm1033934 12 108912621 [A/C] NM_007076 FICD EXON Missense_T249N exm1033940 12 108912728 [A/G] NM_007076 FICD EXON Missense_V285I exm1033944 12 108912776 [A/G] NM_007076 FICD EXON Missense_V301M exm1033945 12 108912794 [A/G] NM_007076 FICD EXON Missense_G307S exm1033962 12 108913073 [T/C] NM_007076 FICD EXON Missense_Y400H exm1751972 12 108913208 [T/C] NM_007076 FICD EXON Missense_P445S exm1033985 12 108918108 [A/G] NM_014706 SART3 EXON Missense_P900L exm1033990 12 108918243 [A/G] NM_014706 SART3 EXON Missense_S855L exm1034001 12 108920034 [T/C] NM_014706 SART3 EXON Missense_I738V exm1034012 12 108920214 [A/G] NM_014706 SART3 EXON Missense_P678S exm1034014 12 108920229 [T/C] NM_014706 SART3 EXON Missense_V673I exm2219792 12 108923971 [A/C] NM_014706 SART3 EXON Missense_E621D exm1034030 12 108924054 [T/C] NM_014706 SART3 EXON Missense_E594K exm1034035 12 108924997 [T/C] NM_014706 SART3 EXON Missense_N577S exm1034041 12 108929165 [T/C] NM_014706 SART3 EXON Missense_N509S exm1034046 12 108930319 [C/G] NM_014706 SART3 EXON Missense_V473L exm1034057 12 108931975 [T/C] NM_014706 SART3 EXON Missense_R356Q exm1034065 12 108936879 [T/C] NM_014706 SART3 EXON Missense_I277M exm1034067 12 108938229 [T/C] NM_014706 SART3 EXON Missense_R252Q exm1034073 12 108939028 [T/C] NM_014706 SART3 EXON Missense_V206I exm1034084 12 108942897 [T/G] NM_014706 SART3 EXON Missense_Q136K exm1034088 12 108942984 [T/C] NM_014706 SART3 EXON Missense_I107V exm1034106 12 108954862 [G/C] NM_014706 SART3 EXON Missense_D23E exm1034109 12 108954894 [C/G] NM_014706 SART3 EXON Missense_E13Q exm1034128 12 108962663 [C/G] NM_213595,NM_014301 ISCU,ISCU EXON Missense_P159A,Missense_P134A exm2273499 12 108962804 [T/C] NM_213595,NM_014301 ISCU,ISCU EXON Silent,Silent exm-rs11113995 12 108970462 [T/C] exm1034137 12 108985379 [A/G] NM_181724 TMEM119 EXON Nonsense_Q261X exm1034150 12 108985672 [A/T] NM_181724 TMEM119 EXON Missense_E163V exm1034172 12 108985885 [T/C] NM_181724 TMEM119 EXON Missense_R92H exm1034182 12 108986044 [A/G] NM_181724 TMEM119 EXON Missense_A39V exm1034188 12 108986151 [T/C] NM_181724 TMEM119 EXON Synonymous_S3S exm2250564 12 108986151 [T/C] NM_181724 TMEM119 EXON Synonymous_S3S exm1034196 12 109016906 [A/G] NM_001206609,NM_003006 SELPLG,SELPLG EXON Missense_T409M,Missense_T393M exm1034197 12 109016915 [A/G] NM_001206609,NM_003006 SELPLG,SELPLG EXON Missense_P406L,Missense_P390L exm1034201 12 109017024 [T/C] NM_001206609,NM_003006 SELPLG,SELPLG EXON Missense_V370M,Missense_V354M exm1034210 12 109017171 [T/C] NM_001206609,NM_003006 SELPLG,SELPLG EXON Missense_V321I,Missense_V305I exm1034218 12 109017264 [T/C] NM_001206609,NM_003006 SELPLG,SELPLG EXON Missense_M290V,Missense_M274V exm1034219 12 109017266 [A/G] NM_001206609,NM_003006 SELPLG,SELPLG EXON Missense_S289F,Missense_S273F exm1034220 12 109017294 [T/C] NM_001206609,NM_003006 SELPLG,SELPLG EXON Missense_T280A,Missense_T264A exm1034222 12 109017307 [T/C] NM_001206609,NM_003006 SELPLG,SELPLG EXON Missense_M275I,Missense_M259I exm1034224 12 109017321 [T/G] NM_001206609,NM_003006 SELPLG,SELPLG EXON Missense_P271T,Missense_P255T exm1034240 12 109017465 [G/C] NM_001206609,NM_003006 SELPLG,SELPLG EXON Missense_A223P,Missense_A207P exm1752057 12 109017468 [T/G] NM_001206609,NM_003006 SELPLG,SELPLG EXON Missense_P222T,Missense_P206T exm1034249 12 109017522 [T/C] NM_001206609,NM_003006 SELPLG,SELPLG EXON Missense_G204S,Missense_G188S exm1034255 12 109017560 [A/G] NM_001206609,NM_003006 SELPLG,SELPLG EXON Missense_P191L,Missense_P175L exm1034259 12 109017614 [A/G] NM_001206609,NM_003006 SELPLG,SELPLG EXON Missense_T173M,Missense_T157M exm1034269 12 109017698 [A/G] NM_001206609,NM_003006 SELPLG,SELPLG EXON Missense_T145M,Missense_T129M exm1034271 12 109017758 [T/A] NM_001206609,NM_003006 SELPLG,SELPLG EXON Missense_M125K,Missense_M109K exm1034274 12 109017773 [A/G] NM_001206609,NM_003006 SELPLG,SELPLG EXON Missense_T120M,Missense_T104M exm1034275 12 109017818 [T/C] NM_001206609,NM_003006 SELPLG,SELPLG EXON Missense_R105H,Missense_R89H exm1034277 12 109017898 [T/C] NM_001206609,NM_003006 SELPLG,SELPLG EXON Missense_M78I,Missense_M62I exm1034280 12 109017966 [A/G] NM_001206609,NM_003006 SELPLG,SELPLG EXON Missense_R56W,Missense_R40W exm1034281 12 109017971 [T/C] NM_001206609,NM_003006 SELPLG,SELPLG EXON Missense_R54Q,Missense_R38Q exm1034285 12 109041188 [T/C] NM_001276471,NM_001105237,NM_014325 CORO1C,CORO1C,CORO1C EXON Missense_I472M,Missense_I525M,Missense_I472M exm1034309 12 109052594 [A/G] NM_001276471,NM_001105237,NM_014325 CORO1C,CORO1C,CORO1C EXON Missense_R184W,Missense_R237W,Missense_R184W exm1034315 12 109055822 [T/C] NM_001276471,NM_001105237,NM_014325 CORO1C,CORO1C,CORO1C EXON Missense_N144S,Missense_N197S,Missense_N144S exm1034336 12 109181849 [A/G] NM_018984 SSH1 EXON Missense_P1022L exm1034345 12 109181932 [A/C] NM_018984 SSH1 EXON Missense_S994R exm1034346 12 109182009 [T/C] NM_018984 SSH1 EXON Missense_V969I exm2219795 12 109182144 [T/G] NM_018984 SSH1 EXON Missense_T924P exm1034352 12 109182218 [C/G] NM_018984 SSH1 EXON Missense_P899R exm1034372 12 109182544 [C/G] NM_018984 SSH1 EXON Missense_R790S exm1034376 12 109182641 [T/A] NM_018984 SSH1 EXON Missense_K758M exm1034379 12 109182672 [A/G] NM_018984 SSH1 EXON Missense_P748S exm1034384 12 109182771 [C/G] NM_018984 SSH1 EXON Missense_L715V exm1034389 12 109182881 [A/G] NM_018984 SSH1 EXON Missense_T678I exm1034395 12 109182939 [T/C] NM_018984 SSH1 EXON Missense_G659R exm1034399 12 109185968 [T/G] NM_018984,NM_001161330,NM_001161331 SSH1,SSH1,SSH1 EXON Silent,Missense_T663P,Missense_T674P exm1034408 12 109186271 [T/C] NM_018984,NM_001161330,NM_001161331 SSH1,SSH1,SSH1 EXON Missense_G562R,Missense_G562R,Missense_G573R exm1034418 12 109186421 [A/G] NM_018984,NM_001161330,NM_001161331 SSH1,SSH1,SSH1 EXON Missense_R512W,Missense_R512W,Missense_R523W exm1034423 12 109186505 [A/G] NM_018984,NM_001161330,NM_001161331 SSH1,SSH1,SSH1 EXON Missense_P484S,Missense_P484S,Missense_P495S exm1034424 12 109186524 [A/G] NM_018984,NM_001161330,NM_001161331 SSH1,SSH1,SSH1 EXON Synonymous_G477G,Synonymous_G477G,Synonymous_G488G exm2250566 12 109186524 [A/G] NM_018984,NM_001161330,NM_001161331 SSH1,SSH1,SSH1 EXON Synonymous_G477G,Synonymous_G477G,Synonymous_G488G exm1034442 12 109198832 [A/G] NM_018984,NM_001161330,NM_001161331 SSH1,SSH1,SSH1 EXON Synonymous_L318L,Synonymous_L318L,Synonymous_L329L exm1034476 12 109210929 [A/G] NM_018984,NM_001161330,NM_001161331 SSH1,SSH1,SSH1 EXON Missense_R96C,Missense_R96C,Missense_R107C exm1034482 12 109217069 [G/C] NM_018984,NM_001161330,NM_001161331 SSH1,SSH1,SSH1 EXON Missense_G60A,Missense_G60A,Missense_G71A exm2219798 12 109217071 [T/A] NM_018984,NM_001161330,NM_001161331 SSH1,SSH1,SSH1 EXON Missense_Q59H,Missense_Q59H,Missense_Q70H exm1034488 12 109221123 [A/G] NM_018984,NM_001161330,NM_001161331 SSH1,SSH1,SSH1 EXON Silent,Silent,Missense_T20M exm1034489 12 109221168 [T/C] NM_018984,NM_001161330,NM_001161331 SSH1,SSH1,SSH1 EXON Silent,Silent,Missense_R5Q exm1034497 12 109246429 [T/C] NM_018984,NM_001161330 SSH1,SSH1 EXON Missense_R32Q,Missense_R32Q exm2271791 12 109278747 [T/G] NM_001917 DAO Silent exm1034505 12 109278787 [A/G] NM_001917 DAO EXON Missense_R2H exm1034511 12 109278847 [A/G] NM_001917 DAO EXON Missense_R22H exm2219800 12 109281253 [T/G] NM_001917 DAO EXON Nonsense_Y74X exm1034522 12 109281299 [T/G] NM_001917 DAO EXON Missense_F90V exm1034526 12 109281339 [T/C] NM_001917 DAO EXON Missense_P103L exm1034527 12 109281340 [A/G] NM_001917 DAO EXON Synonymous_P103P exm1034535 12 109284027 [T/C] NM_001917 DAO EXON Missense_Y144H exm-rs11114086 12 109286399 [T/C] NM_001917 DAO Silent exm1034545 12 109288126 [T/C] NM_001917 DAO EXON Missense_R199W exm2250567 12 109292482 [T/C] NM_001917 DAO EXON Synonymous_I241I exm1034555 12 109293187 [A/G] NM_001917 DAO EXON Missense_R283Q exm1034565 12 109294301 [T/C] NM_001917 DAO EXON Missense_S345F exm1034589 12 109327974 [T/C] NM_018711 SVOP EXON Missense_G296S exm1034595 12 109332690 [T/G] NM_018711 SVOP EXON Missense_N217K exm1034606 12 109354768 [A/G] NM_018711 SVOP EXON Missense_A117V exm2259956 12 109431607 [A/G] NM_018711 SVOP Silent exm1034611 12 109495731 [A/G] NM_032663 USP30 EXON Missense_G65E exm1034616 12 109505330 [A/C] NM_032663 USP30 EXON Synonymous_A126A exm1034620 12 109509481 [A/G] NM_032663 USP30 EXON Missense_R182Q exm1034626 12 109510147 [A/G] NM_032663 USP30 EXON Missense_R206H exm1034636 12 109519188 [T/C] NM_032663 USP30 EXON Missense_A257V exm2250569 12 109519770 [T/C] NM_032663 USP30 EXON Synonymous_H271H exm1034652 12 109520706 [T/C] NM_032663 USP30 EXON Missense_P336L exm1034656 12 109520769 [A/G] NM_032663 USP30 EXON Missense_H357R exm1034660 12 109522829 [A/G] NM_032663 USP30 EXON Missense_T414A exm1034661 12 109522830 [T/C] NM_032663 USP30 EXON Missense_T414M exm1034671 12 109523594 [A/G] NM_032663 USP30 EXON Missense_N471S exm1034684 12 109526067 [T/C] NM_001205179,NM_001001655,NM_001145375,NM_001205180,NM_001145374 ALKBH2,ALKBH2,ALKBH2,ALKBH2,ALKBH2 EXON Silent,Missense_V244I,Missense_V244I,Silent,Missense_V244I exm1752215 12 109526162 [A/G] NM_001205179,NM_001001655,NM_001145375,NM_001205180,NM_001145374 ALKBH2,ALKBH2,ALKBH2,ALKBH2,ALKBH2 EXON Missense_R146W,Missense_A212V,Missense_A212V,Missense_R146W,Missense_A212V exm1034692 12 109526189 [T/C] NM_001205179,NM_001001655,NM_001145375,NM_001205180,NM_001145374 ALKBH2,ALKBH2,ALKBH2,ALKBH2,ALKBH2 EXON Missense_V137M,Missense_R203H,Missense_R203H,Missense_V137M,Missense_R203H exm1034693 12 109526201 [T/C] NM_001205179,NM_001001655,NM_001145375,NM_001205180,NM_001145374 ALKBH2,ALKBH2,ALKBH2,ALKBH2,ALKBH2 EXON Missense_I133V,Missense_H199R,Missense_H199R,Missense_I133V,Missense_H199R exm1034695 12 109526230 [A/G] NM_001205179,NM_001001655,NM_001145375,NM_001205180,NM_001145374 ALKBH2,ALKBH2,ALKBH2,ALKBH2,ALKBH2 EXON Missense_S123L,Synonymous_F189F,Synonymous_F189F,Missense_S123L,Synonymous_F189F exm1034698 12 109526293 [A/G] NM_001205179,NM_001001655,NM_001145375,NM_001205180,NM_001145374 ALKBH2,ALKBH2,ALKBH2,ALKBH2,ALKBH2 EXON Missense_S102L,Synonymous_I168I,Synonymous_I168I,Missense_S102L,Synonymous_I168I exm1034705 12 109527872 [T/C] NM_001205179,NM_001001655,NM_001145375,NM_001205180,NM_001145374 ALKBH2,ALKBH2,ALKBH2,ALKBH2,ALKBH2 EXON Silent,Missense_I141V,Missense_I141V,Silent,Missense_I141V exm1034707 12 109527910 [A/G] NM_001205179,NM_001001655,NM_001145375,NM_001205180,NM_001145374 ALKBH2,ALKBH2,ALKBH2,ALKBH2,ALKBH2 EXON Silent,Missense_T128M,Missense_T128M,Silent,Missense_T128M exm1034722 12 109530470 [A/G] NM_001205179,NM_001001655,NM_001145375,NM_001205180,NM_001145374 ALKBH2,ALKBH2,ALKBH2,ALKBH2,ALKBH2 EXON Missense_P41L,Missense_P41L,Missense_P41L,Missense_P41L,Missense_P41L exm1034725 12 109530564 [T/G] NM_001205179,NM_001001655,NM_001145375,NM_001205180,NM_001145374 ALKBH2,ALKBH2,ALKBH2,ALKBH2,ALKBH2 EXON Missense_Q10K,Missense_Q10K,Missense_Q10K,Missense_Q10K,Missense_Q10K exm2250570 12 109536212 [T/C] NM_080911,NM_003362 UNG,UNG EXON Silent,Synonymous_S27S exm1034738 12 109536250 [A/G] NM_080911,NM_003362 UNG,UNG EXON Missense_K49R,Missense_K40R exm1034745 12 109536366 [T/C] NM_080911,NM_003362 UNG,UNG EXON Missense_R88C,Missense_R79C exm1034751 12 109537020 [A/C] NM_080911,NM_003362 UNG,UNG EXON Missense_R122S,Missense_R113S exm1034760 12 109539785 [G/C] NM_080911,NM_003362 UNG,UNG EXON Missense_P172A,Missense_P163A exm1034766 12 109540689 [T/G] NM_080911,NM_003362 UNG,UNG EXON Missense_F193L,Missense_F184L exm1034767 12 109540703 [A/G] NM_080911,NM_003362 UNG,UNG EXON Missense_H198R,Missense_H189R exm1034773 12 109541336 [T/C] NM_080911,NM_003362 UNG,UNG EXON Missense_W241R,Missense_W232R exm1034776 12 109547637 [T/C] NM_080911,NM_003362 UNG,UNG EXON Missense_R269W,Missense_R260W exm1034788 12 109577338 [T/C] NM_001093 ACACB EXON Missense_P43L exm1034804 12 109577599 [C/G] NM_001093 ACACB EXON Missense_T130S exm1034805 12 109577620 [C/G] NM_001093 ACACB EXON Missense_A137G exm2250572 12 109577738 [T/C] NM_001093 ACACB EXON Synonymous_D176D exm1034810 12 109577776 [A/G] NM_001093 ACACB EXON Missense_R189Q exm1034823 12 109604776 [T/G] NM_001093 ACACB EXON Missense_G255V exm1034825 12 109604793 [A/G] NM_001093 ACACB EXON Missense_E261K exm1034842 12 109609642 [A/G] NM_001093 ACACB EXON Missense_V320I exm1034846 12 109609714 [A/G] NM_001093 ACACB EXON Missense_V344M exm1752284 12 109613826 [A/G] NM_001093 ACACB EXON Missense_D436G exm2263540 12 109614025 [A/G] NM_001093 ACACB EXON Missense_R465Q exm1034873 12 109616947 [A/G] NM_001093 ACACB EXON Missense_A498T exm1034882 12 109617728 [A/G] NM_001093 ACACB EXON Missense_I552V exm1034885 12 109617783 [A/G] NM_001093 ACACB EXON Missense_Y570C exm2250573 12 109617865 [T/C] NM_001093 ACACB EXON Synonymous_D597D exm1034895 12 109623408 [T/C] NM_001093 ACACB EXON Missense_R615W exm1034896 12 109623436 [A/G] NM_001093 ACACB EXON Missense_G624E exm2250575 12 109625884 [T/C] NM_001093 ACACB EXON Synonymous_A687A exm1034910 12 109625884 [T/C] NM_001093 ACACB EXON Synonymous_A687A exm2250576 12 109633316 [T/C] NM_001093 ACACB Silent exm2250577 12 109637234 [A/G] NM_001093 ACACB EXON Synonymous_T885T exm1034950 12 109639462 [A/G] NM_001093 ACACB EXON Missense_V957M exm1034951 12 109639465 [A/G] NM_001093 ACACB EXON Missense_V958M exm1034952 12 109639472 [A/G] NM_001093 ACACB EXON Missense_R960K exm1034953 12 109639483 [A/G] NM_001093 ACACB EXON Missense_D964N exm1034971 12 109650663 [A/G] NM_001093 ACACB EXON Missense_H1091R exm1034983 12 109654448 [A/G] NM_001093 ACACB EXON Missense_M1126V exm1034992 12 109654690 [T/G] NM_001093 ACACB EXON Missense_V1177L exm1034998 12 109660348 [A/G] NM_001093 ACACB EXON Missense_E1201K exm1035006 12 109660694 [G/C] NM_001093 ACACB EXON Missense_Q1257E exm1035011 12 109661672 [A/G] NM_001093 ACACB EXON Missense_Y1282C exm1035021 12 109665242 [A/G] NM_001093 ACACB EXON Missense_G1317S exm1035035 12 109670565 [T/C] NM_001093 ACACB EXON Missense_R1365C exm1035036 12 109670568 [A/G] NM_001093 ACACB EXON Missense_M1366V exm1035046 12 109671830 [T/C] NM_001093 ACACB EXON Missense_R1443W exm1035051 12 109673448 [T/A] NM_001093 ACACB EXON Missense_D1481V exm1035076 12 109677729 [A/G] NM_001093 ACACB EXON Missense_R1586H exm1035088 12 109678935 [A/G] NM_001093 ACACB EXON Missense_K1624R exm1035098 12 109680276 [G/C] NM_001093 ACACB EXON Missense_P1686R exm1035108 12 109683516 [A/G] NM_001093 ACACB EXON Missense_Q1755R exm1035109 12 109683531 [A/G] NM_001093 ACACB EXON Missense_N1760S exm1035113 12 109683996 [T/G] NM_001093 ACACB EXON Missense_A1772S exm1035117 12 109684039 [A/G] NM_001093 ACACB EXON Missense_R1786Q exm1035120 12 109684044 [A/G] NM_001093 ACACB EXON Missense_V1788M exm1035125 12 109684075 [A/G] NM_001093 ACACB EXON Missense_R1798H exm1035128 12 109684125 [A/G] NM_001093 ACACB EXON Missense_E1815K exm1035135 12 109685471 [A/G] NM_001093 ACACB EXON Missense_V1878I exm2263549 12 109687886 [G/C] NM_001093 ACACB EXON Missense_E1923Q exm1035164 12 109692053 [T/C] NM_001093 ACACB EXON Missense_T2027I exm1035169 12 109692110 [A/G] NM_001093 ACACB EXON Missense_R2046Q exm1035170 12 109693957 [T/C] NM_001093 ACACB EXON Missense_T2060M exm1035177 12 109696089 [A/G] NM_001093 ACACB EXON Missense_V2094M exm1035187 12 109696838 [A/G] NM_001093 ACACB EXON Missense_V2141I exm1035190 12 109696861 [T/G] NM_001093 ACACB EXON Missense_K2148N exm1035198 12 109698363 [A/G] NM_001093 ACACB EXON Missense_Y2192C exm1035207 12 109700236 [T/G] NM_001093 ACACB EXON Missense_R2250M exm1035209 12 109700265 [A/G] NM_001093 ACACB EXON Missense_E2260K exm1035221 12 109702162 [A/G] NM_001093 ACACB EXON Missense_G2305S exm1035222 12 109702166 [A/G] NM_001093 ACACB EXON Missense_R2306Q exm1035228 12 109702958 [A/G] NM_001093 ACACB EXON Missense_R2329H exm1035229 12 109702963 [T/C] NM_001093 ACACB EXON Missense_R2331C exm1035235 12 109703044 [A/G] NM_001093 ACACB EXON Missense_M2358V exm1035247 12 109703305 [A/G] NM_001093 ACACB EXON Missense_D2409N exm1035251 12 109704041 [T/C] NM_001093 ACACB EXON Synonymous_G2417G exm1752484 12 109719230 [T/C] NM_213596 FOXN4 EXON Missense_M426V exm1035277 12 109719311 [T/C] NM_213596 FOXN4 EXON Missense_A399T exm1035278 12 109719325 [A/G] NM_213596 FOXN4 EXON Missense_P394L exm1035287 12 109719500 [T/C] NM_213596 FOXN4 EXON Missense_V336M exm1035290 12 109719559 [T/C] NM_213596 FOXN4 EXON Missense_R316H exm1752494 12 109719583 [A/G] NM_213596 FOXN4 EXON Missense_S308F exm1035298 12 109723241 [T/G] NM_213596 FOXN4 EXON Missense_K257Q exm1035317 12 109725663 [A/G] NM_213596 FOXN4 EXON Missense_P152S exm1035327 12 109728077 [G/C] NM_213596 FOXN4 EXON Missense_T34S exm1035335 12 109826634 [A/C] NM_001101421 MYO1H EXON Missense_S37R exm1035345 12 109835556 [T/C] NM_001101421 MYO1H EXON Missense_T154M exm1035346 12 109835562 [A/G] NM_001101421 MYO1H EXON Missense_R156Q exm1035350 12 109838926 [T/G] NM_001101421 MYO1H EXON Missense_S184I exm1035370 12 109845660 [T/A] NM_001101421 MYO1H EXON Missense_V350D exm1035372 12 109845669 [A/G] NM_001101421 MYO1H EXON Missense_R353Q exm1035377 12 109847787 [A/G] NM_001101421 MYO1H EXON Missense_N399D exm1035381 12 109849714 [T/C] NM_001101421 MYO1H EXON Missense_R460W exm1035393 12 109863835 [T/C] NM_001101421 MYO1H EXON Missense_P588S exm1035398 12 109865310 [A/C] NM_001101421 MYO1H EXON Missense_K607T exm1035404 12 109865374 [A/C] NM_001101421 MYO1H EXON Nonsense_Y628X exm1035414 12 109872909 [T/C] NM_001101421 MYO1H EXON Missense_H695Y exm1035416 12 109874319 [T/C] NM_001101421 MYO1H EXON Missense_R707C exm1035423 12 109877467 [T/C] NM_001101421 MYO1H EXON Missense_P760S exm1035426 12 109877506 [T/C] NM_001101421 MYO1H EXON Missense_R773W exm1035432 12 109878572 [A/G] NM_001101421 MYO1H EXON Missense_M810I exm1035435 12 109878603 [T/C] NM_001101421 MYO1H EXON Missense_R821C exm1035446 12 109881371 [A/G] NM_001101421 MYO1H EXON Missense_R898Q exm1035455 12 109883338 [T/C] NM_001101421 MYO1H EXON Missense_P989L exm1035458 12 109883374 [T/C] NM_001101421 MYO1H EXON Missense_L1001P exm1035462 12 109884973 [T/C] NM_001101421 MYO1H EXON Missense_R1019W exm1035463 12 109884985 [T/C] NM_001101421 MYO1H EXON Missense_X1023R exm1035471 12 109889549 [A/G] NM_031954 KCTD10 EXON Missense_R265W exm-rs2338104 12 109895168 [C/G] NM_031954 KCTD10 Silent exm1035488 12 109898523 [T/C] NM_031954 KCTD10 EXON Missense_R102H exm1035502 12 109907478 [T/C] NM_031954 KCTD10 EXON Missense_R20H exm1035506 12 109907499 [A/G] NM_031954 KCTD10 EXON Missense_A13V exm1035518 12 109921448 [A/G] NM_001270451,NM_183415,NM_001270449,NM_001270450,NM_130466 UBE3B,UBE3B,UBE3B,UBE3B,UBE3B EXON Missense_R31Q,Missense_R31Q,Missense_R31Q,Missense_R31Q,Missense_R31Q exm1035520 12 109921478 [A/G] NM_001270451,NM_183415,NM_001270449,NM_001270450,NM_130466 UBE3B,UBE3B,UBE3B,UBE3B,UBE3B EXON Missense_R41Q,Missense_R41Q,Missense_R41Q,Missense_R41Q,Missense_R41Q exm1035525 12 109921682 [T/C] NM_001270451,NM_183415,NM_001270449,NM_001270450,NM_130466 UBE3B,UBE3B,UBE3B,UBE3B,UBE3B EXON Missense_F60L,Missense_F60L,Missense_F60L,Missense_F60L,Missense_F60L exm2250578 12 109921766 [A/C] NM_001270451,NM_183415,NM_001270449,NM_001270450,NM_130466 UBE3B,UBE3B,UBE3B,UBE3B,UBE3B EXON Synonymous_R88R,Synonymous_R88R,Synonymous_R88R,Synonymous_R88R,Synonymous_R88R exm1035534 12 109923822 [T/G] NM_001270451,NM_183415,NM_001270449,NM_001270450,NM_130466 UBE3B,UBE3B,UBE3B,UBE3B,UBE3B EXON Missense_F96L,Missense_F96L,Missense_F96L,Missense_F96L,Missense_F96L exm1035540 12 109924309 [T/C] NM_001270451,NM_183415,NM_001270449,NM_001270450,NM_130466 UBE3B,UBE3B,UBE3B,UBE3B,UBE3B EXON Missense_L126F,Missense_L126F,Missense_L126F,Missense_L126F,Missense_L126F exm1035557 12 109928863 [A/G] NM_183415,NM_130466 UBE3B,UBE3B EXON Missense_R215H,Missense_R215H exm1035567 12 109936056 [T/C] NM_183415,NM_130466 UBE3B,UBE3B EXON Missense_S280P,Missense_S280P exm1035578 12 109937519 [T/C] NM_183415,NM_130466 UBE3B,UBE3B EXON Missense_T341M,Missense_T341M exm1035579 12 109937534 [A/G] NM_183415,NM_130466 UBE3B,UBE3B EXON Missense_R346Q,Missense_R346Q exm1035606 12 109945527 [T/C] NM_183415,NM_130466 UBE3B,UBE3B EXON Missense_R537W,Missense_R537W exm1752632 12 109948227 [A/G] NM_183415,NM_130466 UBE3B,UBE3B EXON Missense_R607Q,Missense_R607Q exm1035614 12 109948229 [T/C] NM_183415,NM_130466 UBE3B,UBE3B EXON Missense_R608W,Missense_R608W exm1752636 12 109949080 [A/G] NM_183415,NM_130466 UBE3B,UBE3B EXON Missense_Y643C,Missense_Y643C exm1035638 12 109958962 [A/G] NM_183415,NM_130466 UBE3B,UBE3B EXON Missense_E696K,Missense_E696K exm1035664 12 109967831 [T/C] NM_183415,NM_130466 UBE3B,UBE3B EXON Missense_R922C,Missense_R922C exm1035670 12 109968428 [A/G] NM_183415,NM_130466 UBE3B,UBE3B EXON Missense_D963N,Missense_D963N exm1035671 12 109968449 [T/G] NM_183415,NM_130466 UBE3B,UBE3B EXON Missense_A970S,Missense_A970S exm1035684 12 109972534 [T/C] NM_183415,NM_130466 UBE3B,UBE3B EXON Missense_R1052C,Missense_R1052C exm1035689 12 109994870 [T/A] NM_052845,NR_038118 MMAB,MMAB EXON Missense_M239K,Silent exm1035698 12 109996925 [A/G] NM_052845,NR_038118 MMAB,MMAB EXON Missense_A207V,Silent exm1035703 12 109998846 [A/G] NM_052845,NR_038118 MMAB,MMAB EXON Missense_R195C,Silent exm1035712 12 109998908 [A/G] NM_052845,NR_038118 MMAB,MMAB EXON Missense_S174L,Silent exm1035713 12 109999603 [T/C] NM_052845,NR_038118 MMAB,MMAB EXON Missense_A135T,Silent exm1035716 12 109999612 [A/G] NM_052845,NR_038118 MMAB,MMAB EXON Missense_C132R,Silent exm-rs7134594 12 110000193 [T/C] NM_052845,NR_038118 MMAB,MMAB Silent,Silent exm1035720 12 110006659 [T/C] NM_052845,NR_038118 MMAB,MMAB EXON Missense_S69N,Silent exm1035721 12 110009465 [A/G] NM_052845,NR_038118 MMAB,MMAB EXON Missense_T62M,Silent exm1035735 12 110012641 [T/C] NM_000431,NM_001114185 MVK,MVK EXON Missense_V5A,Missense_V5A exm1035738 12 110013879 [A/G] NM_000431,NM_001114185 MVK,MVK EXON Missense_S52N,Missense_S52N exm1035745 12 110017726 [T/C] NM_000431,NM_001114185 MVK,MVK EXON Missense_Y116H,Missense_Y116H exm1035771 12 110029080 [T/C] NM_000431,NM_001114185 MVK,MVK EXON Missense_I268T,Missense_I268T exm1035773 12 110029106 [T/C] NM_000431,NM_001114185 MVK,MVK EXON Missense_R277C,Missense_R277C exm1035782 12 110029151 [T/C] NM_000431,NM_001114185 MVK,MVK EXON Missense_L292F,Missense_L292F exm1035792 12 110034258 [T/C] NM_000431,NM_001114185 MVK,MVK EXON Missense_T356M,Missense_T356M exm1035795 12 110034320 [A/G] NM_000431,NM_001114185 MVK,MVK EXON Missense_V377I,Missense_V377I exm2271793 12 110054356 [T/C] exm-rs10774834 12 110108063 [T/C] exm2259957 12 110196599 [T/C] NM_032829,NR_026661,NR_026662 FAM222A,FAM222A-AS1,FAM222A-AS1 Silent,Silent,Silent exm1035807 12 110205831 [A/G] NM_032829,NR_026661,NR_026662 FAM222A,FAM222A-AS1,FAM222A-AS1 EXON Missense_S33G,Silent,Silent exm1035816 12 110206012 [T/C] NM_032829,NR_026661,NR_026662 FAM222A,FAM222A-AS1,FAM222A-AS1 EXON Missense_P93L,Silent,Silent exm1752731 12 110206059 [A/G] NM_032829,NR_026661,NR_026662 FAM222A,FAM222A-AS1,FAM222A-AS1 EXON Missense_A109T,Silent,Silent exm1752733 12 110206090 [T/C] NM_032829,NR_026661,NR_026662 FAM222A,FAM222A-AS1,FAM222A-AS1 EXON Missense_A119V,Silent,Silent exm1035817 12 110206098 [A/G] NM_032829,NR_026661,NR_026662 FAM222A,FAM222A-AS1,FAM222A-AS1 EXON Missense_A122T,Silent,Silent exm1035837 12 110206461 [A/G] NM_032829,NR_026661,NR_026662 FAM222A,FAM222A-AS1,FAM222A-AS1 EXON Missense_A243T,Silent,Silent exm1035852 12 110206683 [A/G] NM_032829,NR_026661,NR_026662 FAM222A,FAM222A-AS1,FAM222A-AS1 EXON Missense_G317R,Silent,Silent exm1035853 12 110206684 [A/G] NM_032829,NR_026661,NR_026662 FAM222A,FAM222A-AS1,FAM222A-AS1 EXON Missense_G317E,Silent,Silent exm1035875 12 110206984 [A/G] NM_032829,NR_026661,NR_026662 FAM222A,FAM222A-AS1,FAM222A-AS1 EXON Missense_R417Q,Silent,Silent exm2250579 12 110207078 [A/G] NM_032829,NR_026661,NR_026662 FAM222A,FAM222A-AS1,FAM222A-AS1 EXON Synonymous_L448L,Silent,Silent exm1035892 12 110221524 [T/C] NM_001177433,NM_147204,NM_001177431,NM_001177428,NM_021625 TRPV4,TRPV4,TRPV4,TRPV4,TRPV4 EXON Missense_E733K,Missense_E780K,Missense_E806K,Missense_E793K,Missense_E840K exm1035896 12 110221544 [T/C] NM_001177433,NM_147204,NM_001177431,NM_001177428,NM_021625 TRPV4,TRPV4,TRPV4,TRPV4,TRPV4 EXON Missense_N726S,Missense_N773S,Missense_N799S,Missense_N786S,Missense_N833S exm1035910 12 110224531 [A/G] NM_001177433,NM_147204,NM_001177431,NM_001177428,NM_021625 TRPV4,TRPV4,TRPV4,TRPV4,TRPV4 EXON Missense_R667C,Missense_R714C,Missense_R740C,Missense_R727C,Missense_R774C exm1035926 12 110226500 [A/G] NM_001177433,NM_147204,NM_001177431,NM_001177428,NM_021625 TRPV4,TRPV4,TRPV4,TRPV4,TRPV4 EXON Missense_P531L,Missense_P578L,Missense_P604L,Missense_P591L,Missense_P638L exm1035934 12 110230552 [T/C] NM_001177433,NM_147204,NM_001177431,NM_001177428,NM_021625 TRPV4,TRPV4,TRPV4,TRPV4,TRPV4 EXON Missense_V470M,Missense_V517M,Missense_V543M,Missense_V530M,Missense_V577M exm1035939 12 110230597 [T/C] NM_001177433,NM_147204,NM_001177431,NM_001177428,NM_021625 TRPV4,TRPV4,TRPV4,TRPV4,TRPV4 EXON Missense_V455I,Missense_V502I,Missense_V528I,Missense_V515I,Missense_V562I exm1035944 12 110231773 [T/C] NM_001177433,NM_147204,NM_001177431,NM_001177428,NM_021625 TRPV4,TRPV4,TRPV4,TRPV4,TRPV4 EXON Missense_I409V,Missense_I456V,Missense_I482V,Missense_I469V,Missense_I516V exm1035951 12 110232204 [T/C] NM_001177433,NM_147204,NM_001177431,NM_001177428,NM_021625 TRPV4,TRPV4,TRPV4,TRPV4,TRPV4 EXON Missense_N367S,Missense_N414S,Missense_N440S,Missense_N427S,Missense_N474S exm1035956 12 110232247 [A/G] NM_001177433,NM_147204,NM_001177431,NM_001177428,NM_021625 TRPV4,TRPV4,TRPV4,TRPV4,TRPV4 EXON Missense_R353W,Missense_R400W,Missense_R426W,Missense_R413W,Missense_R460W exm1035958 12 110232288 [A/C] NM_001177433,NM_147204,NM_001177431,NM_001177428,NM_021625 TRPV4,TRPV4,TRPV4,TRPV4,TRPV4 EXON Missense_R339L,Missense_R386L,Missense_R412L,Missense_R399L,Missense_R446L exm1035982 12 110236631 [T/C] NM_001177433,NM_147204,NM_001177431,NM_001177428,NM_021625 TRPV4,TRPV4,TRPV4,TRPV4,TRPV4 EXON Missense_M267V,Missense_M314V,Missense_M280V,Missense_M267V,Missense_M314V exm1036006 12 110240859 [A/C] NM_001177433,NM_147204,NM_001177431,NM_001177428,NM_021625 TRPV4,TRPV4,TRPV4,TRPV4,TRPV4 EXON Missense_A217S,Missense_A217S,Missense_A183S,Missense_A217S,Missense_A217S exm1036035 12 110252450 [A/G] NM_001177433,NM_147204,NM_001177431,NM_001177428,NM_021625 TRPV4,TRPV4,TRPV4,TRPV4,TRPV4 EXON Missense_P51L,Missense_P51L,Silent,Missense_P51L,Missense_P51L exm1036066 12 110293498 [A/G] NM_016433 GLTP EXON Missense_R125C exm1036069 12 110293525 [A/G] NM_016433 GLTP EXON Missense_R116W exm1036077 12 110295424 [T/C] NM_016433 GLTP EXON Missense_R68Q exm1036095 12 110340895 [T/C] NM_001143852,NM_032300 TCHP,TCHP EXON Nonsense_R22X,Nonsense_R22X exm1036101 12 110341020 [T/G] NM_001143852,NM_032300 TCHP,TCHP Silent,Silent exm1036106 12 110341800 [T/C] NM_001143852,NM_032300 TCHP,TCHP EXON Nonsense_R83X,Nonsense_R83X exm1036111 12 110341933 [A/G] NM_001143852,NM_032300 TCHP,TCHP EXON Missense_K127R,Missense_K127R exm1036118 12 110342561 [A/G] NM_001143852,NM_032300 TCHP,TCHP EXON Missense_Y140C,Missense_Y140C exm1036123 12 110342594 [A/G] NM_001143852,NM_032300 TCHP,TCHP EXON Missense_R151Q,Missense_R151Q exm1036124 12 110342598 [A/G] NM_001143852,NM_032300 TCHP,TCHP EXON Synonymous_E152E,Synonymous_E152E exm1036136 12 110345415 [C/G] NM_001143852,NM_032300 TCHP,TCHP EXON Missense_A204P,Missense_A204P exm1036141 12 110346392 [T/C] NM_001143852,NM_032300 TCHP,TCHP EXON Missense_A234V,Missense_A234V exm1036142 12 110346398 [A/G] NM_001143852,NM_032300 TCHP,TCHP EXON Missense_K236R,Missense_K236R exm1036144 12 110346434 [A/G] NM_001143852,NM_032300 TCHP,TCHP EXON Missense_R248Q,Missense_R248Q exm1752829 12 110348910 [T/G] NM_001143852,NM_032300 TCHP,TCHP EXON Missense_D308Y,Missense_D308Y exm1036169 12 110350848 [T/C] NM_001143852,NM_032300 TCHP,TCHP EXON Missense_R369C,Missense_R369C exm1036171 12 110350854 [A/G] NM_001143852,NM_032300 TCHP,TCHP EXON Missense_A371T,Missense_A371T exm1036177 12 110352290 [A/G] NM_001143852,NM_032300 TCHP,TCHP EXON Missense_Q393R,Missense_Q393R exm1036183 12 110352361 [A/G] NM_001143852,NM_032300 TCHP,TCHP EXON Missense_E417K,Missense_E417K exm1036184 12 110352370 [T/C] NM_001143852,NM_032300 TCHP,TCHP EXON Missense_R420C,Missense_R420C exm1036192 12 110353218 [A/G] NM_001143852,NM_032300 TCHP,TCHP EXON Missense_R444H,Missense_R444H exm1036194 12 110353234 [A/G] NM_001143852,NM_032300 TCHP,TCHP EXON Nonsense_W449X,Nonsense_W449X exm1036198 12 110353275 [A/G] NM_001143852,NM_032300 TCHP,TCHP EXON Missense_R463Q,Missense_R463Q exm-rs2292354 12 110368201 [A/G] NM_057169,NM_057170,NM_001135214,NM_014776,NM_001135213 GIT2,GIT2,GIT2,GIT2,GIT2 EXON Silent,Silent,Silent,Silent,Silent exm2250581 12 110370843 [A/G] NM_057169,NM_057170,NM_001135214,NM_014776,NM_001135213 GIT2,GIT2,GIT2,GIT2,GIT2 EXON Synonymous_Y740Y,Synonymous_Y612Y,Synonymous_Y710Y,Synonymous_Y660Y,Synonymous_Y662Y exm1036216 12 110370881 [T/C] NM_057169,NM_057170,NM_001135214,NM_014776,NM_001135213 GIT2,GIT2,GIT2,GIT2,GIT2 EXON Missense_V728I,Missense_V600I,Missense_V698I,Missense_V648I,Missense_V650I exm1036221 12 110371862 [T/C] NM_057169,NM_057170,NM_001135214,NM_014776,NM_001135213 GIT2,GIT2,GIT2,GIT2,GIT2 EXON Missense_V678I,Missense_V550I,Missense_V648I,Missense_V598I,Missense_V600I exm1036234 12 110383141 [A/G] NM_057169,NM_057170,NM_001135214,NM_014776,NM_001135213 GIT2,GIT2,GIT2,GIT2,GIT2 EXON Missense_A552V,Silent,Silent,Silent,Silent exm1752861 12 110385123 [T/G] NM_057169,NM_057170,NM_001135214,NM_014776,NM_001135213 GIT2,GIT2,GIT2,GIT2,GIT2 EXON Missense_P527T,Silent,Missense_P527T,Missense_P477T,Missense_P479T exm1036254 12 110389051 [T/A] NM_057169,NM_057170,NM_001135214,NM_014776,NM_001135213,NM_139201 GIT2,GIT2,GIT2,GIT2,GIT2,GIT2 EXON Missense_V438E,Missense_V438E,Missense_V438E,Silent,Silent,Missense_V438E exm1036255 12 110389074 [T/A] NM_057169,NM_057170,NM_001135214,NM_014776,NM_001135213,NM_139201 GIT2,GIT2,GIT2,GIT2,GIT2,GIT2 EXON Missense_F430L,Missense_F430L,Missense_F430L,Silent,Silent,Missense_F430L exm2250582 12 110390903 [T/C] NM_057169,NM_057170,NM_001135214,NM_014776,NM_001135213,NM_139201 GIT2,GIT2,GIT2,GIT2,GIT2,GIT2 EXON Synonymous_R412R,Synonymous_R412R,Synonymous_R412R,Synonymous_R412R,Synonymous_R414R,Synonymous_R412R exm1036258 12 110390905 [A/G] NM_057169,NM_057170,NM_001135214,NM_014776,NM_001135213,NM_139201 GIT2,GIT2,GIT2,GIT2,GIT2,GIT2 EXON Missense_R412W,Missense_R412W,Missense_R412W,Missense_R412W,Missense_R414W,Missense_R412W exm1036261 12 110390977 [T/C] NM_057169,NM_057170,NM_001135214,NM_014776,NM_001135213,NM_139201 GIT2,GIT2,GIT2,GIT2,GIT2,GIT2 EXON Missense_D388N,Missense_D388N,Missense_D388N,Missense_D388N,Missense_D390N,Missense_D388N exm1036263 12 110390979 [T/C] NM_057169,NM_057170,NM_001135214,NM_014776,NM_001135213,NM_139201 GIT2,GIT2,GIT2,GIT2,GIT2,GIT2 EXON Missense_N387S,Missense_N387S,Missense_N387S,Missense_N387S,Missense_N389S,Missense_N387S exm1036271 12 110397738 [T/C] NM_057169,NM_057170,NM_001135214,NM_014776,NM_001135213,NM_139201 GIT2,GIT2,GIT2,GIT2,GIT2,GIT2 EXON Missense_N338S,Missense_N338S,Missense_N338S,Missense_N338S,Missense_N340S,Missense_N338S exm1036318 12 110449921 [A/G] NM_033121 ANKRD13A EXON Missense_E70K exm1036321 12 110450971 [T/A] NM_033121 ANKRD13A EXON Missense_Y91N exm1036329 12 110456279 [T/C] NM_033121 ANKRD13A EXON Missense_I177T exm1036332 12 110457072 [T/C] NM_033121 ANKRD13A EXON Missense_R225W exm1036348 12 110466381 [A/G] NM_033121 ANKRD13A EXON Missense_N337S exm1036361 12 110471609 [G/C] NM_033121 ANKRD13A EXON Missense_H452Q exm1036363 12 110471635 [A/C] NM_033121 ANKRD13A EXON Missense_S461Y exm1036367 12 110474070 [T/C] NM_033121 ANKRD13A EXON Missense_L505P exm1036378 12 110475337 [A/G] NM_033121 ANKRD13A EXON Missense_Q584R exm1036383 12 110480266 [T/C] NM_207435 C12orf76 Silent exm1036398 12 110565193 [A/G] NM_014055,NM_001143779,NM_031473 IFT81,IFT81,IFT81 EXON Missense_D3G,Missense_D3G,Missense_D3G exm1036405 12 110566754 [A/G] NM_014055,NM_001143779,NM_031473 IFT81,IFT81,IFT81 Silent,Silent,Silent exm1036408 12 110566907 [A/G] NM_014055,NM_001143779,NM_031473 IFT81,IFT81,IFT81 EXON Missense_D134G,Missense_D134G,Missense_D134G exm1036413 12 110573210 [C/G] NM_014055,NM_001143779,NM_031473 IFT81,IFT81,IFT81 EXON Missense_L222V,Missense_L222V,Missense_L222V exm1752938 12 110574598 [A/C] NM_014055,NM_001143779,NM_031473 IFT81,IFT81,IFT81 EXON Missense_Q238H,Missense_Q238H,Missense_Q238H exm1036424 12 110581322 [T/A] NM_014055,NM_001143779,NM_031473 IFT81,IFT81,IFT81 EXON Missense_H306L,Missense_H306L,Missense_H306L exm1036435 12 110618255 [A/G] NM_014055,NM_001143779 IFT81,IFT81 EXON Missense_S406N,Missense_S406N exm1036439 12 110628827 [T/C] NM_014055,NM_001143779 IFT81,IFT81 EXON Nonsense_R481X,Nonsense_R481X exm1036442 12 110630488 [T/C] NM_014055,NM_001143779 IFT81,IFT81 EXON Nonsense_R512X,Nonsense_R512X exm1036444 12 110630498 [A/G] NM_014055,NM_001143779 IFT81,IFT81 EXON Missense_R515H,Missense_R515H exm1036448 12 110641739 [A/G] NM_014055,NM_001143779 IFT81,IFT81 EXON Missense_R543Q,Missense_R543Q exm-rs11065611 12 110704487 [T/C] exm1036467 12 110719688 [T/C] NM_001681,NM_170665 ATP2A2,ATP2A2 EXON Missense_L32F,Missense_L32F exm1036493 12 110770402 [A/G] NM_001681,NM_170665 ATP2A2,ATP2A2 EXON Missense_M366V,Missense_M366V exm1036567 12 110784091 [T/C] NM_001681,NM_170665 ATP2A2,ATP2A2 EXON Missense_T982M,Missense_T982M exm1036570 12 110784169 [T/C] NM_001681,NM_170665 ATP2A2,ATP2A2 EXON Silent,Missense_S1008L exm1036574 12 110784210 [A/G] NM_001681,NM_170665 ATP2A2,ATP2A2 EXON Silent,Missense_I1022V exm2273500 12 110788139 [T/A] NM_001681,NM_170665 ATP2A2,ATP2A2 EXON Silent,Silent exm1036607 12 110820718 [T/C] NM_016238,NM_001137664 ANAPC7,ANAPC7 EXON Missense_D323N,Missense_D323N exm2250584 12 110841379 [A/G] NM_016238,NM_001137664 ANAPC7,ANAPC7 EXON Synonymous_N52N,Synonymous_N52N exm1036637 12 110841379 [A/G] NM_016238,NM_001137664 ANAPC7,ANAPC7 EXON Synonymous_N52N,Synonymous_N52N exm1036639 12 110841437 [T/C] NM_016238,NM_001137664 ANAPC7,ANAPC7 EXON Missense_S33N,Missense_S33N exm1036640 12 110841439 [G/C] NM_016238,NM_001137664 ANAPC7,ANAPC7 EXON Missense_Q32H,Missense_Q32H exm1036641 12 110841470 [A/G] NM_016238,NM_001137664 ANAPC7,ANAPC7 EXON Missense_S22L,Missense_S22L exm1036642 12 110841483 [A/G] NM_016238,NM_001137664 ANAPC7,ANAPC7 EXON Missense_R18W,Missense_R18W exm1036652 12 110873000 [T/C] NM_005719 ARPC3 EXON Missense_R166K exm1036659 12 110874376 [T/A] NM_005719 ARPC3 EXON Missense_N122I exm2219850 12 110883274 [A/C] NM_005719 ARPC3 EXON Missense_G30V exm1036679 12 110888061 [A/G] NM_005719 ARPC3 EXON Missense_P2L exm1036695 12 110893723 [T/C] NM_001164373,NM_016301,NM_001164372 GPN3,GPN3,GPN3 EXON Missense_I165V,Missense_I155V,Missense_I194V exm1036709 12 110897617 [A/G] NM_001164373,NM_016301,NM_001164372 GPN3,GPN3,GPN3 EXON Nonsense_R80X,Nonsense_R70X,Nonsense_R109X exm1036715 12 110902920 [C/G] NM_001164373,NM_016301,NM_001164372 GPN3,GPN3,GPN3 EXON Missense_V60L,Missense_V50L,Missense_V89L exm1036742 12 110924363 [A/G] NM_013300 FAM216A EXON Missense_R154H exm1036743 12 110924375 [A/G] NM_013300 FAM216A EXON Missense_R158H exm1036744 12 110924395 [T/G] NM_013300 FAM216A EXON Missense_Y165D exm1036746 12 110924419 [T/C] NM_013300 FAM216A EXON Nonsense_Q173X exm1036753 12 110925718 [A/G] NM_013300 FAM216A EXON Missense_R225G exm1036789 12 110944445 [T/C] NM_152442 RAD9B EXON Missense_I112T exm1036790 12 110950584 [T/G] NM_152442 RAD9B EXON Missense_G130V exm1753111 12 110950635 [T/C] NM_152442 RAD9B EXON Missense_V147A exm1036791 12 110950665 [T/C] NM_152442 RAD9B EXON Missense_T157M exm1036795 12 110952867 [T/G] NM_152442 RAD9B EXON Missense_D167E exm1036796 12 110952892 [G/C] NM_152442 RAD9B EXON Missense_Q176E exm1036798 12 110956531 [A/G] NM_152442 RAD9B EXON Missense_D216N exm1036805 12 110957663 [A/G] NM_152442 RAD9B EXON Missense_D278N exm1036808 12 110957714 [T/C] NM_152442 RAD9B EXON Nonsense_R295X exm1036810 12 110960041 [T/C] NM_152442 RAD9B EXON Missense_I317T exm1036813 12 110960196 [A/G] NM_152442 RAD9B EXON Missense_G369R exm1036816 12 110968344 [A/C] NM_152442 RAD9B EXON Missense_F380L exm1036823 12 110969380 [A/G] NM_152442 RAD9B EXON Synonymous_V412V exm1036861 12 111052219 [C/G] NM_001082538,NM_024549,NM_001082537,NM_001173976,NM_001173975 TCTN1,TCTN1,TCTN1,TCTN1,TCTN1 EXON Silent,Silent,Silent,Silent,Missense_M1I exm1036864 12 111057718 [A/G] NM_001082538,NM_024549,NM_001082537,NM_001173976,NM_001173975 TCTN1,TCTN1,TCTN1,TCTN1,TCTN1 EXON Missense_V100M,Missense_V100M,Missense_V100M,Missense_V40M,Missense_V44M exm1036865 12 111057762 [A/G] NM_001082538,NM_024549,NM_001082537,NM_001173976,NM_001173975 TCTN1,TCTN1,TCTN1,TCTN1,TCTN1 Silent,Silent,Silent,Silent,Silent exm1036873 12 111066587 [A/C] NM_001082538,NM_024549,NM_001082537,NM_001173976,NM_001173975 TCTN1,TCTN1,TCTN1,TCTN1,TCTN1 EXON Missense_S163Y,Missense_S163Y,Missense_S163Y,Missense_S103Y,Missense_S107Y exm1036887 12 111078234 [T/C] NM_001082538,NM_024549,NM_001082537,NM_001173976,NM_001173975 TCTN1,TCTN1,TCTN1,TCTN1,TCTN1 EXON Missense_T297M,Missense_T283M,Missense_T297M,Missense_T237M,Missense_T241M exm1036891 12 111078278 [A/G] NM_001082538,NM_024549,NM_001082537,NM_001173976,NM_001173975 TCTN1,TCTN1,TCTN1,TCTN1,TCTN1 EXON Missense_V312I,Missense_V298I,Missense_V312I,Missense_V252I,Missense_V256I exm1036894 12 111078284 [A/G] NM_001082538,NM_024549,NM_001082537,NM_001173976,NM_001173975 TCTN1,TCTN1,TCTN1,TCTN1,TCTN1 EXON Missense_A314T,Missense_A300T,Missense_A314T,Missense_A254T,Missense_A258T exm1036905 12 111080097 [A/G] NM_001082538,NM_024549,NM_001082537,NM_001173976,NM_001173975 TCTN1,TCTN1,TCTN1,TCTN1,TCTN1 EXON Missense_I412V,Missense_I398V,Missense_I412V,Silent,Missense_I356V exm1036906 12 111080104 [A/G] NM_001082538,NM_024549,NM_001082537,NM_001173976,NM_001173975 TCTN1,TCTN1,TCTN1,TCTN1,TCTN1 EXON Missense_H414R,Missense_H400R,Missense_H414R,Silent,Missense_H358R exm1036910 12 111080154 [G/C] NM_001082538,NM_024549,NM_001082537,NM_001173976,NM_001173975 TCTN1,TCTN1,TCTN1,TCTN1,TCTN1 EXON Missense_V431L,Missense_V417L,Missense_V431L,Silent,Missense_V375L exm1036911 12 111080164 [A/G] NM_001082538,NM_024549,NM_001082537,NM_001173976,NM_001173975 TCTN1,TCTN1,TCTN1,TCTN1,TCTN1 EXON Missense_G434D,Missense_G420D,Missense_G434D,Silent,Missense_G378D exm1036912 12 111080167 [A/G] NM_001082538,NM_024549,NM_001082537,NM_001173976,NM_001173975 TCTN1,TCTN1,TCTN1,TCTN1,TCTN1 EXON Missense_Y435C,Missense_Y421C,Missense_Y435C,Silent,Missense_Y379C exm1036915 12 111082819 [C/G] NM_001082538,NM_024549,NM_001082537,NM_001173976,NM_001173975 TCTN1,TCTN1,TCTN1,TCTN1,TCTN1 EXON Missense_S460T,Missense_S446T,Missense_S460T,Missense_S351T,Missense_S404T exm1036918 12 111082827 [T/C] NM_001082538,NM_024549,NM_001082537,NM_001173976,NM_001173975 TCTN1,TCTN1,TCTN1,TCTN1,TCTN1 EXON Missense_W463R,Missense_W449R,Missense_W463R,Missense_W354R,Missense_W407R exm1036923 12 111082911 [T/A] NM_001082538,NM_024549,NM_001082537,NM_001173976,NM_001173975 TCTN1,TCTN1,TCTN1,TCTN1,TCTN1 EXON Missense_I491F,Missense_I477F,Missense_I491F,Missense_I382F,Missense_I435F exm1036934 12 111085576 [T/C] NM_001082538,NM_024549,NM_001082537,NM_001173976,NM_001173975 TCTN1,TCTN1,TCTN1,TCTN1,TCTN1 EXON Missense_T553M,Missense_T534M,Missense_T548M,Missense_T444M,Missense_T492M exm1036949 12 111088061 [T/C] NM_001256413,NM_001040107,NM_032369 HVCN1,HVCN1,HVCN1 EXON Missense_R203H,Missense_R223H,Missense_R223H exm1036953 12 111089139 [T/C] NM_001256413,NM_001040107,NM_032369 HVCN1,HVCN1,HVCN1 EXON Missense_V156I,Missense_V176I,Missense_V176I exm1036962 12 111099002 [T/C] NM_001256413,NM_001040107,NM_032369 HVCN1,HVCN1,HVCN1 EXON Missense_M71I,Missense_M91I,Missense_M91I exm1036971 12 111099166 [T/C] NM_001256413,NM_001040107,NM_032369 HVCN1,HVCN1,HVCN1 EXON Missense_A17T,Missense_A37T,Missense_A37T exm2219856 12 111099216 [T/C] NM_001256413,NM_001040107,NM_032369 HVCN1,HVCN1,HVCN1 EXON Silent,Missense_R20K,Missense_R20K exm2267391 12 111264484 [A/G] exm2274627 12 111291236 [A/G] NM_152591 CCDC63 EXON Missense_D13N exm1037045 12 111291350 [T/C] NM_152591 CCDC63 EXON Nonsense_R51X exm1753188 12 111296418 [A/C] NM_152591 CCDC63 EXON Missense_Q70K exm1037051 12 111296458 [T/C] NM_152591 CCDC63 EXON Missense_S83L exm1037055 12 111311670 [A/G] NM_152591 CCDC63 EXON Missense_A132T exm1037056 12 111311718 [T/C] NM_152591 CCDC63 EXON Missense_R148W exm1037062 12 111317855 [T/C] NM_152591 CCDC63 EXON Missense_L212S exm1037063 12 111317862 [T/G] NM_152591 CCDC63 EXON Missense_I214M exm1037078 12 111321905 [T/C] NM_152591 CCDC63 EXON Missense_R309W exm1037079 12 111321906 [A/G] NM_152591 CCDC63 EXON Missense_R309Q exm1037080 12 111321908 [A/C] NM_152591 CCDC63 EXON Missense_L310M exm1037086 12 111330882 [A/C] NM_152591 CCDC63 EXON Missense_D359E exm1037087 12 111330892 [G/C] NM_152591 CCDC63 EXON Missense_L363V exm1037089 12 111330922 [A/G] NM_152591 CCDC63 EXON Missense_D373N exm-rs10849915 12 111333622 [T/C] NM_152591 CCDC63 Silent exm1037091 12 111336788 [A/G] NM_152591 CCDC63 EXON Missense_G401R exm2250586 12 111336892 [A/G] NM_152591 CCDC63 EXON Synonymous_T435T exm1037096 12 111336918 [T/C] NM_152591 CCDC63 EXON Missense_P444L exm-rs10774610 12 111340243 [T/C] NM_152591 CCDC63 Silent exm1037102 12 111342443 [A/G] NM_152591 CCDC63 EXON Missense_R465H exm1037111 12 111342586 [T/A] NM_152591 CCDC63 EXON Missense_L513M exm1037112 12 111342595 [A/G] NM_152591 CCDC63 EXON Missense_V516M exm1037113 12 111345134 [A/G] NM_152591 CCDC63 Silent exm1037120 12 111345219 [T/G] NM_152591 CCDC63 EXON Missense_R544L exm1037123 12 111345240 [A/G] NM_152591 CCDC63 EXON Missense_K551R exm1037147 12 111352080 [A/T] NM_000432 MYL2 EXON Nonsense_K62X exm1037150 12 111353547 [T/G] NM_000432 MYL2 EXON Missense_N47K exm1037154 12 111356964 [T/C] NM_000432 MYL2 EXON Missense_A13T exm2267392 12 111385296 [A/G] exm-rs12229654 12 111414461 [T/G] exm1037167 12 111652019 [T/G] NM_015267 CUX2 EXON Missense_V27F exm1037169 12 111652040 [T/C] NM_015267 CUX2 EXON Missense_R34W exm1037187 12 111729338 [A/G] NM_015267 CUX2 EXON Missense_E140K exm1037188 12 111729350 [T/C] NM_015267 CUX2 EXON Missense_P144S exm1037191 12 111731276 [A/G] NM_015267 CUX2 EXON Missense_G155R exm2250588 12 111734290 [A/G] NM_015267 CUX2 EXON Synonymous_T217T exm1037210 12 111744758 [T/C] NM_015267 CUX2 EXON Missense_R298W exm1037215 12 111744780 [T/C] NM_015267 CUX2 EXON Missense_S305F exm1037224 12 111744903 [C/G] NM_015267 CUX2 EXON Missense_S346C exm2250589 12 111748263 [T/C] NM_015267 CUX2 EXON Synonymous_A559A exm1037251 12 111748382 [A/G] NM_015267 CUX2 EXON Missense_R599H exm1037264 12 111758109 [A/G] NM_015267 CUX2 EXON Missense_A766T exm2250590 12 111758456 [A/G] NM_015267 CUX2 EXON Synonymous_P881P exm1037295 12 111776225 [A/G] NM_015267 CUX2 EXON Missense_N1111S exm1037299 12 111779619 [A/G] NM_015267 CUX2 EXON Missense_G1141S exm1037304 12 111779748 [T/C] NM_015267 CUX2 EXON Missense_R1184W exm1037318 12 111785515 [A/G] NM_015267 CUX2 EXON Missense_E1283K exm1037326 12 111785665 [T/C] NM_015267 CUX2 EXON Missense_P1333S exm1037335 12 111785776 [A/G] NM_015267 CUX2 EXON Missense_G1370R exm1037345 12 111785966 [T/C] NM_015267 CUX2 EXON Missense_P1433L exm1037348 12 111786038 [A/G] NM_015267 CUX2 EXON Missense_R1457Q exm1037350 12 111786082 [G/C] NM_015267 CUX2 EXON Missense_V1472L exm1037367 12 111800849 [A/G] NM_001177996,NM_001177997,NM_144671 FAM109A,FAM109A,FAM109A EXON Missense_A141V,Missense_A128V,Missense_A128V exm1037373 12 111800967 [A/G] NM_001177996,NM_001177997,NM_144671 FAM109A,FAM109A,FAM109A EXON Missense_R102C,Missense_R89C,Missense_R89C exm2219872 12 111801248 [T/C] NM_001177996,NM_001177997,NM_144671 FAM109A,FAM109A,FAM109A EXON Missense_G8D,Silent,Silent exm1037409 12 111856506 [T/G] NM_005475 SH2B3 EXON Missense_S186I exm1037422 12 111884594 [T/C] NM_005475 SH2B3 EXON Missense_I257T exm1037423 12 111884608 [T/C] NM_005475 SH2B3 EXON Missense_W262R exm1037424 12 111884618 [A/G] NM_005475 SH2B3 EXON Missense_R265Q exm1037431 12 111884828 [A/C] NM_005475 SH2B3 EXON Missense_T306K exm1037436 12 111885002 [A/G] NM_005475 SH2B3 EXON Missense_S334G exm1037437 12 111885143 [T/C] NM_005475 SH2B3 EXON Missense_P344L exm1037444 12 111885295 [A/G] NM_005475 SH2B3 EXON Missense_E395K exm1037446 12 111885305 [A/G] NM_005475 SH2B3 EXON Missense_R398H exm1037447 12 111885310 [A/G] NM_005475 SH2B3 EXON Missense_E400K exm1037454 12 111885496 [T/C] NM_005475 SH2B3 EXON Missense_R425C exm2250591 12 111885591 [T/C] NM_005475 SH2B3 EXON Synonymous_V456V exm1037465 12 111885799 [T/C] NM_005475 SH2B3 EXON Missense_T474M exm1037466 12 111885804 [T/C] NM_005475 SH2B3 EXON Missense_L476F exm1037468 12 111885832 [A/G] NM_005475 SH2B3 EXON Missense_D485G exm1037476 12 111885984 [A/G] NM_005475 SH2B3 EXON Missense_A536T exm1037482 12 111886074 [T/C] NM_005475 SH2B3 EXON Missense_R566W exm1037483 12 111886075 [A/G] NM_005475 SH2B3 EXON Missense_R566Q exm1037484 12 111886081 [T/C] NM_005475 SH2B3 EXON Missense_I568T exm1037517 12 111902514 [A/G] NM_002973 ATXN2 EXON Missense_P1108S exm1037527 12 111908545 [T/C] NM_002973 ATXN2 EXON Synonymous_V1000V exm-rs10774625 12 111910219 [A/G] NM_002973 ATXN2 Silent exm1037529 12 111923117 [T/C] NM_002973 ATXN2 EXON Missense_M986V exm1037532 12 111923594 [A/G] NM_002973 ATXN2 EXON Missense_P954S exm1037535 12 111923670 [T/C] NM_002973 ATXN2 Silent exm1037544 12 111926562 [T/C] NM_002973 ATXN2 EXON Missense_E813G exm1753400 12 111947754 [A/T] NM_002973 ATXN2 EXON Missense_N762I exm1037551 12 111948201 [C/G] NM_002973 ATXN2 EXON Missense_P742A exm2219877 12 111948297 [A/G] NM_002973 ATXN2 EXON Missense_P710S exm1753406 12 111948306 [A/G] NM_002973 ATXN2 EXON Missense_L707F exm1037571 12 111956065 [T/C] NM_002973 ATXN2 EXON Missense_V545I exm1037574 12 111956226 [T/C] NM_002973 ATXN2 EXON Missense_N491S exm1037577 12 111957791 [T/C] NM_002973 ATXN2 EXON Missense_Q453R exm1037604 12 111993688 [A/G] NM_002973 ATXN2 EXON Missense_T256M exm1037605 12 111993712 [T/C] NM_002973 ATXN2 EXON Missense_S248N exm-rs653178 12 112007756 [T/C] NM_002973 ATXN2 Silent exm-rs11065987 12 112072424 [A/G] exm1037631 12 112082022 [T/C] NM_006768 BRAP EXON Missense_R587H exm1037633 12 112082110 [T/G] NM_006768 BRAP EXON Missense_Q558K exm1037644 12 112087743 [T/C] NM_006768 BRAP EXON Missense_K472R exm-rs3782886 12 112110489 [T/C] NM_006768 BRAP EXON Synonymous_R241R exm1037673 12 112116963 [A/G] NM_006768 BRAP EXON Missense_R209C exm1037692 12 112121061 [T/C] NM_006768 BRAP EXON Missense_V45I exm1753458 12 112130610 [T/C] NM_001136538,NM_025247 ACAD10,ACAD10 EXON Nonsense_R33X,Nonsense_R33X exm1037707 12 112130611 [A/G] NM_001136538,NM_025247 ACAD10,ACAD10 EXON Missense_R33Q,Missense_R33Q exm1037714 12 112130674 [T/G] NM_001136538,NM_025247 ACAD10,ACAD10 EXON Missense_I54S,Missense_I54S exm1037728 12 112147397 [A/G] NM_001136538,NM_025247 ACAD10,ACAD10 EXON Missense_Q200R,Missense_Q200R exm1037730 12 112147438 [T/C] NM_001136538,NM_025247 ACAD10,ACAD10 EXON Missense_L214F,Missense_L214F exm1037732 12 112147444 [A/C] NM_001136538,NM_025247 ACAD10,ACAD10 EXON Missense_T216P,Missense_T216P exm1037738 12 112150408 [T/C] NM_001136538,NM_025247 ACAD10,ACAD10 EXON Missense_P297L,Missense_P266L exm1753472 12 112159491 [T/G] NM_001136538,NM_025247 ACAD10,ACAD10 EXON Missense_A368S,Missense_A337S exm1037760 12 112165819 [A/G] NM_001136538,NM_025247 ACAD10,ACAD10 EXON Missense_K403R,Missense_K372R exm1037765 12 112165941 [A/C] NM_001136538,NM_025247 ACAD10,ACAD10 EXON Missense_K444Q,Missense_K413Q exm1037767 12 112167640 [A/G] NM_001136538,NM_025247 ACAD10,ACAD10 EXON Nonsense_W456X,Nonsense_W425X exm1037768 12 112167654 [T/C] NM_001136538,NM_025247 ACAD10,ACAD10 EXON Nonsense_R461X,Nonsense_R430X exm1037769 12 112167663 [A/G] NM_001136538,NM_025247 ACAD10,ACAD10 EXON Missense_E464K,Missense_E433K exm-rs11066015 12 112168009 [A/G] NM_001136538,NM_025247 ACAD10,ACAD10 Silent,Silent exm1037783 12 112171784 [A/G] NM_001136538,NM_025247 ACAD10,ACAD10 EXON Nonsense_W515X,Nonsense_W484X exm1037796 12 112174773 [G/C] NM_001136538,NM_025247 ACAD10,ACAD10 EXON Missense_A591G,Missense_A560G exm1753492 12 112182465 [A/G] NM_001136538,NM_025247 ACAD10,ACAD10 EXON Missense_Y609C,Missense_Y578C exm1037802 12 112182585 [A/G] NM_001136538,NM_025247 ACAD10,ACAD10 EXON Missense_Y649C,Missense_Y618C exm1037811 12 112182692 [A/G] NM_001136538,NM_025247 ACAD10,ACAD10 EXON Missense_I685V,Missense_I654V exm1037826 12 112184027 [T/C] NM_001136538,NM_025247 ACAD10,ACAD10 EXON Missense_L763P,Missense_L732P exm1037827 12 112184033 [A/G] NM_001136538,NM_025247 ACAD10,ACAD10 EXON Missense_N765S,Missense_N734S exm1037831 12 112184086 [A/G] NM_001136538,NM_025247 ACAD10,ACAD10 EXON Missense_E783K,Missense_E752K exm1037834 12 112184865 [T/C] NM_001136538,NM_025247 ACAD10,ACAD10 EXON Missense_S788P,Missense_S757P exm1037842 12 112185166 [A/T] NM_001136538,NM_025247 ACAD10,ACAD10 EXON Missense_N852I,Missense_N821I exm1037845 12 112186148 [T/G] NM_001136538,NM_025247 ACAD10,ACAD10 EXON Missense_C869F,Missense_C838F exm1037850 12 112186253 [T/C] NM_001136538,NM_025247 ACAD10,ACAD10 EXON Missense_T904M,Missense_T873M exm1037851 12 112186274 [T/C] NM_001136538,NM_025247 ACAD10,ACAD10 EXON Missense_A911V,Missense_A880V exm1037853 12 112186982 [T/C] NM_001136538,NM_025247 ACAD10,ACAD10 EXON Missense_H915Y,Missense_H884Y exm1037856 12 112187025 [A/G] NM_001136538,NM_025247 ACAD10,ACAD10 EXON Missense_N929S,Missense_N898S exm2219891 12 112187061 [T/C] NM_001136538,NM_025247 ACAD10,ACAD10 EXON Missense_A941V,Missense_A910V exm1037862 12 112187138 [A/G] NM_001136538,NM_025247 ACAD10,ACAD10 EXON Missense_M967V,Missense_M936V exm1037863 12 112187140 [A/G] NM_001136538,NM_025247 ACAD10,ACAD10 EXON Missense_M967I,Missense_M936I exm1037865 12 112187149 [T/C] NM_001136538,NM_025247 ACAD10,ACAD10 EXON Synonymous_R970R,Synonymous_R939R exm1037867 12 112191580 [A/C] NM_001136538,NM_025247 ACAD10,ACAD10 EXON Missense_K972T,Missense_K941T exm1037875 12 112191669 [T/C] NM_001136538,NM_025247 ACAD10,ACAD10 EXON Missense_R1002W,Missense_R971W exm1037876 12 112191718 [A/C] NM_001136538,NM_025247 ACAD10,ACAD10 EXON Missense_K1018T,Missense_K987T exm1037878 12 112193526 [T/C] NM_001136538,NM_025247 ACAD10,ACAD10 EXON Nonsense_R1037X,Nonsense_R1006X exm1037887 12 112194215 [A/G] NM_001136538,NM_025247 ACAD10,ACAD10 EXON Missense_D1071N,Missense_D1040N exm1037891 12 112194237 [A/G] NM_001136538,NM_025247 ACAD10,ACAD10 EXON Missense_R1078Q,Missense_R1047Q exm1037892 12 112194243 [T/C] NM_001136538,NM_025247 ACAD10,ACAD10 EXON Missense_T1080M,Missense_T1049M exm2259959 12 112211833 [T/C] NM_001204889,NM_000690 ALDH2,ALDH2 Silent,Silent exm1037894 12 112219724 [T/G] NM_001204889,NM_000690 ALDH2,ALDH2 EXON Missense_I39M,Missense_I39M exm1037895 12 112219728 [A/G] NM_001204889,NM_000690 ALDH2,ALDH2 EXON Missense_I41V,Missense_I41V exm1037902 12 112220981 [T/C] NM_001204889,NM_000690 ALDH2,ALDH2 EXON Silent,Missense_V80A exm1037909 12 112221016 [A/C] NM_001204889,NM_000690 ALDH2,ALDH2 EXON Silent,Missense_P92T exm1037911 12 112221025 [T/C] NM_001204889,NM_000690 ALDH2,ALDH2 EXON Silent,Missense_R95C exm1037914 12 112221070 [G/C] NM_001204889,NM_000690 ALDH2,ALDH2 EXON Silent,Missense_D110H exm1037926 12 112227737 [T/C] NM_001204889,NM_000690 ALDH2,ALDH2 EXON Missense_P137L,Missense_P184L exm1037948 12 112229964 [A/G] NM_001204889,NM_000690 ALDH2,ALDH2 EXON Missense_D252N,Missense_D299N exm1753536 12 112230413 [A/G] NM_001204889,NM_000690 ALDH2,ALDH2 EXON Missense_V257M,Missense_V304M exm1037953 12 112230515 [T/C] NM_001204889,NM_000690 ALDH2,ALDH2 EXON Missense_R291W,Missense_R338W exm1037968 12 112241766 [A/G] NM_001204889,NM_000690 ALDH2,ALDH2 EXON Missense_E457K,Missense_E504K exm1037979 12 112308111 [A/C] NM_003668,NM_139078 MAPKAPK5,MAPKAPK5 EXON Missense_I144L,Missense_I144L exm1037989 12 112321569 [A/G] NM_003668,NM_139078 MAPKAPK5,MAPKAPK5 EXON Missense_R282K,Missense_R282K exm1037990 12 112321572 [A/G] NM_003668,NM_139078 MAPKAPK5,MAPKAPK5 EXON Missense_K283R,Missense_K283R exm1038005 12 112330774 [A/G] NM_003668,NM_139078 MAPKAPK5,MAPKAPK5 EXON Missense_R442H,Missense_R444H exm2271796 12 112354531 [T/C] exm1038012 12 112369505 [T/G] NM_001193453,NM_001193531,NM_138341 TMEM116,TMEM116,TMEM116 EXON Missense_Q277K,Missense_Q312K,Missense_Q220K exm1038024 12 112370419 [T/C] NM_001193453,NM_001193531,NM_138341 TMEM116,TMEM116,TMEM116 EXON Missense_K225E,Missense_K260E,Missense_K168E exm1038025 12 112370461 [A/C] NM_001193453,NM_001193531,NM_138341 TMEM116,TMEM116,TMEM116 EXON Missense_V211F,Missense_V246F,Missense_V154F exm1038037 12 112375990 [A/C] NM_001193453,NM_001193531,NM_138341 TMEM116,TMEM116,TMEM116 EXON Missense_C79G,Missense_C114G,Missense_C22G exm2250595 12 112381071 [A/G] NM_001193453,NM_001193531,NM_138341 TMEM116,TMEM116,TMEM116 EXON Silent,Synonymous_L105L,Synonymous_L13L exm1038068 12 112457654 [T/C] NM_001034025,NM_006817 ERP29,ERP29 EXON Silent,Missense_S80L exm1038074 12 112459980 [A/C] NM_001034025,NM_006817 ERP29,ERP29 EXON Silent,Missense_L104M exm1038075 12 112460028 [T/C] NM_001034025,NM_006817 ERP29,ERP29 EXON Silent,Missense_L120F exm1038081 12 112460140 [A/G] NM_001034025,NM_006817 ERP29,ERP29 EXON Silent,Missense_C157Y exm1038086 12 112460195 [T/G] NM_001034025,NM_006817 ERP29,ERP29 EXON Silent,Missense_E175D exm1038088 12 112460215 [A/G] NM_001034025,NM_006817 ERP29,ERP29 EXON Silent,Missense_K182R exm1038090 12 112460335 [T/C] NM_001034025,NM_006817 ERP29,ERP29 EXON Silent,Missense_T222I exm1038105 12 112471090 [T/G] NM_024953 NAA25 EXON Missense_L915I exm1038106 12 112477055 [T/C] NM_024953 NAA25 EXON Missense_K876R exm1038114 12 112478316 [A/G] NM_024953 NAA25 EXON Missense_T836I exm1038124 12 112481511 [T/C] NM_024953 NAA25 EXON Missense_R723Q exm1038134 12 112485563 [T/C] NM_024953 NAA25 EXON Missense_M638V exm-rs17696736 12 112486818 [A/G] NM_024953 NAA25 Silent exm1038160 12 112512521 [T/C] NM_024953 NAA25 EXON Missense_R275Q exm-rs4767364 12 112521448 [A/G] NM_024953 NAA25 Silent exm2219903 12 112546546 [T/G] NM_024953 NAA25 EXON Missense_N11T exm1038182 12 112572637 [A/G] NM_001143906,NM_006700 TRAFD1,TRAFD1 EXON Missense_K48R,Missense_K48R exm1038194 12 112578821 [A/G] NM_001143906,NM_006700 TRAFD1,TRAFD1 EXON Missense_V146I,Missense_V146I exm1038201 12 112579920 [A/G] NM_001143906,NM_006700 TRAFD1,TRAFD1 EXON Missense_N224S,Missense_N224S exm1038205 12 112580017 [T/G] NM_001143906,NM_006700 TRAFD1,TRAFD1 EXON Missense_S256R,Missense_S256R exm1038207 12 112580041 [C/G] NM_001143906,NM_006700 TRAFD1,TRAFD1 EXON Missense_R264S,Missense_R264S exm1753666 12 112580072 [A/G] NM_001143906,NM_006700 TRAFD1,TRAFD1 EXON Missense_G275S,Missense_G275S exm1038215 12 112583447 [A/C] NM_001143906,NM_006700 TRAFD1,TRAFD1 EXON Missense_E303A,Missense_E303A exm1038221 12 112586091 [G/C] NM_001143906,NM_006700 TRAFD1,TRAFD1 EXON Missense_V381L,Missense_V381L exm1038231 12 112589679 [A/G] NM_001143906,NM_006700 TRAFD1,TRAFD1 EXON Missense_S452G,Missense_S452G exm1038242 12 112590254 [A/C] NM_001143906,NM_006700 TRAFD1,TRAFD1 EXON Missense_N548T,Missense_N548T exm1038244 12 112590278 [T/C] NM_001143906,NM_006700 TRAFD1,TRAFD1 EXON Missense_A556V,Missense_A556V exm2273501 12 112590640 [A/G] NM_001143906,NM_006700 TRAFD1,TRAFD1 EXON Silent,Silent exm1038262 12 112601928 [T/C] NM_001109662 HECTD4 EXON Missense_R4095Q exm2250599 12 112605160 [T/C] NM_001109662 HECTD4 EXON Synonymous_A4031A exm1038273 12 112605167 [T/C] NM_001109662 HECTD4 EXON Missense_Q4029R exm1753686 12 112607462 [T/C] NM_001109662 HECTD4 EXON Missense_G3884E exm1038288 12 112608227 [T/C] NM_001109662 HECTD4 EXON Missense_V3854M exm1038294 12 112610487 [T/C] NM_001109662 HECTD4 EXON Missense_A3791T exm1038305 12 112613615 [A/G] NM_001109662 HECTD4 EXON Missense_I3706T exm1038327 12 112622044 [C/G] NM_001109662 HECTD4 EXON Missense_L3442V exm1038341 12 112622352 [A/G] NM_001109662 HECTD4 EXON Missense_T3339M exm1038366 12 112628647 [T/C] NM_001109662 HECTD4 EXON Missense_E3005K exm2219908 12 112630532 [T/C] NM_001109662 HECTD4 EXON Missense_V2908I exm1038385 12 112631292 [T/C] NM_001109662 HECTD4 EXON Missense_Q2845R exm1038404 12 112641558 [T/C] NM_001109662 HECTD4 EXON Missense_R2629H exm-rs2074356 12 112645401 [A/G] NM_001109662 HECTD4 Silent exm2219911 12 112648022 [A/G] NM_001109662 HECTD4 EXON Missense_P2421L exm1038426 12 112650430 [T/C] NM_001109662 HECTD4 EXON Missense_E2363G exm1038453 12 112666518 [T/C] NM_001109662 HECTD4 EXON Missense_R2072K exm1038459 12 112667572 [T/C] NM_001109662 HECTD4 EXON Missense_R2016H exm2250600 12 112667675 [T/G] NM_001109662 HECTD4 EXON Synonymous_R1982R exm1038467 12 112670852 [T/C] NM_001109662 HECTD4 EXON Missense_A1851T exm1038472 12 112673047 [T/A] NM_001109662 HECTD4 EXON Missense_T1783S exm1038488 12 112676957 [T/C] NM_001109662 HECTD4 EXON Missense_S1596N exm1038504 12 112681251 [T/C] NM_001109662 HECTD4 EXON Missense_V1488M exm1038526 12 112685901 [A/C] NM_001109662 HECTD4 EXON Missense_M1272I exm1038528 12 112685947 [T/C] NM_001109662 HECTD4 EXON Missense_Q1257R exm1038534 12 112688054 [C/G] NM_001109662 HECTD4 EXON Missense_V1148L exm1038541 12 112688164 [T/C] NM_001109662 HECTD4 EXON Missense_E1111G exm1038543 12 112688793 [T/C] NM_001109662 HECTD4 EXON Missense_R1099Q exm1038544 12 112688831 [A/T] NM_001109662 HECTD4 EXON Missense_E1086D exm2219912 12 112691962 [A/G] NM_001109662 HECTD4 EXON Missense_V967A exm1038553 12 112696326 [A/C] NM_001109662 HECTD4 EXON Missense_Q890H exm1038556 12 112696994 [A/C] NM_001109662 HECTD4 EXON Missense_M839I exm1038557 12 112699118 [T/C] NM_001109662 HECTD4 EXON Missense_R811H exm1038572 12 112708167 [T/C] NM_001109662 HECTD4 EXON Missense_N536S exm-rs11066280 12 112817783 [A/T] NM_001109662 HECTD4 Silent exm-rs11066301 12 112871372 [A/G] NM_002834,NM_080601 PTPN11,PTPN11 Silent,Silent exm1753785 12 112884094 [A/G] NM_002834,NM_080601 PTPN11,PTPN11 EXON Missense_N10S,Missense_N10S exm1038661 12 112915526 [A/G] NM_002834,NM_080601 PTPN11,PTPN11 EXON Missense_I309V,Missense_I309V exm1038671 12 112924280 [G/C] NM_002834,NM_080601 PTPN11,PTPN11 EXON Missense_G409A,Missense_G409A exm2271797 12 113039943 [T/C] exm-rs3803064 12 113173494 [A/G] exm1038697 12 113266169 [T/C] NM_001143854,NM_014954 RPH3A,RPH3A EXON Missense_P16S,Missense_P16S exm1038698 12 113266179 [A/G] NM_001143854,NM_014954 RPH3A,RPH3A EXON Missense_R19Q,Missense_R19Q exm1038707 12 113285551 [A/G] NM_001143854,NM_014954 RPH3A,RPH3A EXON Missense_R45K,Missense_R41K exm1038711 12 113285626 [A/G] NM_001143854,NM_014954 RPH3A,RPH3A EXON Missense_E70G,Missense_E66G exm1038729 12 113306365 [T/C] NM_001143854,NM_014954 RPH3A,RPH3A EXON Missense_P192L,Missense_P188L exm1038733 12 113306398 [A/G] NM_001143854,NM_014954 RPH3A,RPH3A EXON Missense_R203Q,Missense_R199Q exm1038743 12 113307721 [A/G] NM_001143854,NM_014954 RPH3A,RPH3A EXON Missense_G225R,Missense_G221R exm1038745 12 113307733 [T/C] NM_001143854,NM_014954 RPH3A,RPH3A EXON Missense_Y229H,Missense_Y225H exm1038748 12 113307748 [T/C] NM_001143854,NM_014954 RPH3A,RPH3A EXON Missense_R234C,Missense_R230C exm1038751 12 113307785 [A/G] NM_001143854,NM_014954 RPH3A,RPH3A EXON Missense_R246Q,Missense_R242Q exm1038752 12 113307812 [C/G] NM_001143854,NM_014954 RPH3A,RPH3A EXON Missense_G255A,Missense_G251A exm1038755 12 113312892 [T/C] NM_001143854,NM_014954 RPH3A,RPH3A EXON Missense_L267S,Missense_L263S exm1753835 12 113312937 [T/C] NM_001143854,NM_014954 RPH3A,RPH3A EXON Missense_S282L,Missense_S278L exm1038772 12 113314509 [A/G] NM_001143854,NM_014954 RPH3A,RPH3A EXON Missense_G337R,Missense_G333R exm2276270 12 113314609 [A/G] NM_001143854,NM_014954 RPH3A,RPH3A EXON Missense_R370H,Missense_R366H exm1038777 12 113316959 [A/G] NM_001143854,NM_014954 RPH3A,RPH3A EXON Missense_D403N,Missense_D399N exm1038787 12 113321161 [T/G] NM_001143854,NM_014954 RPH3A,RPH3A EXON Missense_V464L,Missense_V460L exm2271798 12 113325629 [T/C] NM_001143854,NM_014954 RPH3A,RPH3A EXON Synonymous_F488F,Synonymous_F484F exm1753868 12 113328663 [T/C] NM_001143854,NM_014954 RPH3A,RPH3A EXON Missense_R544C,Missense_R540C exm1038804 12 113332390 [A/C] NM_001143854,NM_014954 RPH3A,RPH3A EXON Missense_K595Q,Missense_K591Q exm1038828 12 113344983 [T/C] NM_016816,NM_002534,NM_001032409 OAS1,OAS1,OAS1 EXON Nonsense_R47X,Nonsense_R47X,Nonsense_R47X exm1038830 12 113345007 [A/G] NM_016816,NM_002534,NM_001032409 OAS1,OAS1,OAS1 EXON Missense_V55M,Missense_V55M,Missense_V55M exm1038834 12 113346384 [A/C] NM_016816,NM_002534,NM_001032409 OAS1,OAS1,OAS1 EXON Missense_D75A,Missense_D75A,Missense_D75A exm1038836 12 113346431 [C/G] NM_016816,NM_002534,NM_001032409 OAS1,OAS1,OAS1 EXON Missense_Q91E,Missense_Q91E,Missense_Q91E exm1038853 12 113348870 [A/G] NM_016816,NM_002534,NM_001032409 OAS1,OAS1,OAS1 EXON Missense_G162S,Missense_G162S,Missense_G162S exm1038858 12 113348921 [T/G] NM_016816,NM_002534,NM_001032409 OAS1,OAS1,OAS1 EXON Missense_D179Y,Missense_D179Y,Missense_D179Y exm1038866 12 113354341 [T/C] NM_016816,NM_002534,NM_001032409 OAS1,OAS1,OAS1 EXON Missense_P228S,Missense_P228S,Missense_P228S exm1038869 12 113354384 [A/G] NM_016816,NM_002534,NM_001032409 OAS1,OAS1,OAS1 EXON Missense_R242Q,Missense_R242Q,Missense_R242Q exm1038872 12 113354465 [A/G] NM_016816,NM_002534,NM_001032409 OAS1,OAS1,OAS1 EXON Missense_C269Y,Missense_C269Y,Missense_C269Y exm1038882 12 113355357 [T/G] NM_016816,NM_002534,NM_001032409 OAS1,OAS1,OAS1 EXON Missense_V297G,Missense_V297G,Missense_V297G exm1038883 12 113355369 [T/C] NM_016816,NM_002534,NM_001032409 OAS1,OAS1,OAS1 EXON Missense_P301L,Missense_P301L,Missense_P301L exm1038886 12 113355387 [A/T] NM_016816,NM_002534,NM_001032409 OAS1,OAS1,OAS1 EXON Missense_N307I,Missense_N307I,Missense_N307I exm1038889 12 113355447 [T/C] NM_016816,NM_002534,NM_001032409 OAS1,OAS1,OAS1 EXON Missense_L327P,Missense_L327P,Missense_L327P exm1038894 12 113357193 [A/G] NM_016816,NM_001032409 OAS1,OAS1 Silent,Silent exm1038896 12 113357209 [A/G] NM_016816,NM_001032409 OAS1,OAS1 EXON Missense_A352T,Silent exm1038897 12 113357216 [A/G] NM_016816,NM_001032409 OAS1,OAS1 EXON Missense_D354G,Silent exm1038900 12 113357237 [C/G] NM_016816,NM_001032409 OAS1,OAS1 EXON Missense_R361T,Silent exm1038901 12 113357307 [A/G] NM_016816,NM_001032409 OAS1,OAS1 EXON Synonymous_Q384Q,Missense_G352S exm1038909 12 113357409 [T/C] NM_016816,NM_001032409 OAS1,OAS1 EXON Silent,Missense_L386F exm1038911 12 113357442 [A/G] NM_016816,NM_001032409 OAS1,OAS1 EXON Silent,Missense_G397R exm1038912 12 113357477 [C/G] NM_016816,NM_001032409 OAS1,OAS1 EXON Silent,Missense_Q408H exm1038914 12 113357494 [C/G] NM_016816,NM_001032409 OAS1,OAS1 EXON Silent,Missense_S414C exm1038918 12 113376388 [A/G] NM_006187 OAS3 EXON Missense_R18K exm1038925 12 113376480 [A/G] NM_006187 OAS3 EXON Missense_A49T exm1038928 12 113379390 [T/C] NM_006187 OAS3 EXON Missense_R65W exm1038933 12 113379598 [T/C] NM_006187 OAS3 EXON Missense_T134I exm1038938 12 113382281 [T/G] NM_006187 OAS3 EXON Missense_G154V exm1038945 12 113382362 [T/C] NM_006187 OAS3 EXON Missense_A181V exm1038957 12 113384703 [A/C] NM_006187 OAS3 EXON Missense_H264Q exm1038959 12 113384741 [A/G] NM_006187 OAS3 EXON Missense_D277G exm1038960 12 113384755 [A/C] NM_006187 OAS3 EXON Missense_Q282K exm1753918 12 113385904 [A/G] NM_006187 OAS3 EXON Synonymous_P343P exm1038969 12 113386742 [T/G] NM_006187 OAS3 EXON Missense_S369I exm1038972 12 113386769 [A/G] NM_006187 OAS3 EXON Missense_R378K exm1038973 12 113386779 [G/C] NM_006187 OAS3 EXON Missense_S381R exm1038983 12 113387002 [A/G] NM_006187 OAS3 EXON Missense_V456I exm1038990 12 113388598 [A/G] NM_006187 OAS3 EXON Missense_R492H exm1038991 12 113388603 [A/G] NM_006187 OAS3 EXON Missense_A494T exm1038992 12 113388618 [A/G] NM_006187 OAS3 EXON Missense_E499K exm1038999 12 113398921 [A/G] NM_006187 OAS3 EXON Missense_R568K exm1039000 12 113398950 [A/G] NM_006187 OAS3 EXON Missense_E578K exm1039001 12 113398968 [A/G] NM_006187 OAS3 EXON Missense_A584T exm1039012 12 113400593 [T/C] NM_006187 OAS3 EXON Missense_T657M exm1039015 12 113400607 [A/G] NM_006187 OAS3 EXON Missense_V662M exm1039024 12 113401212 [T/G] NM_006187 OAS3 EXON Missense_A727S exm2250604 12 113403587 [T/C] NM_006187 OAS3 EXON Synonymous_R814R exm1039033 12 113403675 [T/C] NM_006187 OAS3 EXON Nonsense_R844X exm1753956 12 113403751 [A/G] NM_006187 OAS3 EXON Missense_R869H exm1039040 12 113403827 [A/C] NM_006187 OAS3 EXON Missense_D894E exm1039046 12 113405328 [A/G] NM_006187 OAS3 EXON Missense_R932Q exm1039050 12 113405372 [T/C] NM_006187 OAS3 EXON Missense_R947W exm1039055 12 113405835 [C/G] NM_006187 OAS3 EXON Missense_S987C exm1039058 12 113405891 [T/C] NM_006187 OAS3 EXON Missense_R1006C exm2219919 12 113407465 [T/C] NM_006187 OAS3 EXON Missense_R1053C exm1039070 12 113407773 [A/G] NM_006187 OAS3 EXON Missense_V1087M exm-rs2072134 12 113409176 [A/G] NM_006187 OAS3 EXON Silent exm2250605 12 113416428 [A/G] NM_002535,NM_016817,NM_001032731 OAS2,OAS2,OAS2 EXON Synonymous_E5E,Synonymous_E5E,Synonymous_E5E exm1039073 12 113416450 [A/G] NM_002535,NM_016817,NM_001032731 OAS2,OAS2,OAS2 EXON Missense_A13T,Missense_A13T,Missense_A13T exm1039077 12 113416550 [A/G] NM_002535,NM_016817,NM_001032731 OAS2,OAS2,OAS2 EXON Missense_Q46R,Missense_Q46R,Missense_Q46R exm1753971 12 113424858 [C/G] NM_002535,NM_016817,NM_001032731 OAS2,OAS2,OAS2 EXON Missense_R65G,Missense_R65G,Missense_R65G exm2219921 12 113425125 [T/C] NM_002535,NM_016817,NM_001032731 OAS2,OAS2,OAS2 EXON Silent,Silent,Missense_W154R exm1039097 12 113425154 [C/G] NM_002535,NM_016817,NM_001032731 OAS2,OAS2,OAS2 EXON Silent,Silent,Missense_S163R exm1753976 12 113433227 [A/G] NM_002535,NM_016817 OAS2,OAS2 EXON Missense_R192H,Missense_R192H exm1039110 12 113435344 [A/G] NM_002535,NM_016817 OAS2,OAS2 EXON Missense_D216G,Missense_D216G exm1039114 12 113435362 [T/C] NM_002535,NM_016817 OAS2,OAS2 EXON Missense_P222L,Missense_P222L exm1039129 12 113436117 [A/G] NM_002535,NM_016817 OAS2,OAS2 EXON Missense_D304N,Missense_D304N exm1039137 12 113440906 [A/G] NM_002535,NM_016817 OAS2,OAS2 EXON Missense_R393Q,Missense_R393Q exm1039156 12 113444334 [T/C] NM_002535,NM_016817 OAS2,OAS2 EXON Nonsense_R529X,Nonsense_R529X exm1039158 12 113444353 [A/G] NM_002535,NM_016817 OAS2,OAS2 EXON Missense_R535Q,Missense_R535Q exm1039164 12 113445580 [T/C] NM_002535,NM_016817 OAS2,OAS2 EXON Missense_A576V,Missense_A576V exm1039176 12 113446972 [A/C] NM_002535,NM_016817 OAS2,OAS2 EXON Missense_E659A,Missense_E659A exm1039178 12 113447044 [T/C] NM_002535,NM_016817 OAS2,OAS2 EXON Missense_P683L,Missense_P683L exm1039179 12 113447045 [A/G] NM_002535,NM_016817 OAS2,OAS2 EXON Synonymous_P683P,Synonymous_P683P exm1039185 12 113448288 [A/G] NM_002535,NM_016817 OAS2,OAS2 EXON Silent,Missense_X720W exm2271870 12 113452942 [T/C] exm2250606 12 113532945 [A/G] NM_004416 DTX1 EXON Synonymous_S495S exm1039277 12 113534539 [T/C] NM_004416 DTX1 EXON Missense_T553M exm1039302 12 113537834 [A/G] NM_001193521,NM_001193520,NM_004658 RASAL1,RASAL1,RASAL1 EXON Missense_T744I,Missense_T774I,Missense_T772I exm1039305 12 113537871 [A/C] NM_001193521,NM_001193520,NM_004658 RASAL1,RASAL1,RASAL1 EXON Missense_A732S,Missense_A762S,Missense_A760S exm1039307 12 113538450 [A/G] NM_001193521,NM_001193520,NM_004658 RASAL1,RASAL1,RASAL1 EXON Missense_T725I,Missense_T755I,Missense_T753I exm1039314 12 113539812 [T/C] NM_001193521,NM_001193520,NM_004658 RASAL1,RASAL1,RASAL1 EXON Missense_A674T,Missense_A704T,Missense_A702T exm1039315 12 113539813 [A/G] NM_001193521,NM_001193520,NM_004658 RASAL1,RASAL1,RASAL1 EXON Synonymous_A673A,Synonymous_A703A,Synonymous_A701A exm1039331 12 113543539 [T/A] NM_001193521,NM_001193520,NM_004658 RASAL1,RASAL1,RASAL1 EXON Missense_S603T,Missense_S605T,Missense_S603T exm1039332 12 113543542 [A/G] NM_001193521,NM_001193520,NM_004658 RASAL1,RASAL1,RASAL1 EXON Missense_F602L,Missense_F604L,Missense_F602L exm1039345 12 113544922 [A/C] NM_001193521,NM_001193520,NM_004658 RASAL1,RASAL1,RASAL1 EXON Missense_V546G,Missense_V547G,Missense_V546G exm1039367 12 113550043 [G/C] NM_001193521,NM_001193520,NM_004658 RASAL1,RASAL1,RASAL1 EXON Missense_R408G,Missense_R408G,Missense_R408G exm1039371 12 113552606 [A/G] NM_001193521,NM_001193520,NM_004658 RASAL1,RASAL1,RASAL1 EXON Missense_R394W,Missense_R394W,Missense_R394W exm1039373 12 113552611 [T/C] NM_001193521,NM_001193520,NM_004658 RASAL1,RASAL1,RASAL1 EXON Missense_R392H,Missense_R392H,Missense_R392H exm1039375 12 113552666 [T/C] NM_001193521,NM_001193520,NM_004658 RASAL1,RASAL1,RASAL1 EXON Missense_V374I,Missense_V374I,Missense_V374I exm1039376 12 113552668 [T/C] NM_001193521,NM_001193520,NM_004658 RASAL1,RASAL1,RASAL1 EXON Missense_R373H,Missense_R373H,Missense_R373H exm1039385 12 113553461 [A/G] NM_001193521,NM_001193520,NM_004658 RASAL1,RASAL1,RASAL1 EXON Missense_R328W,Missense_R328W,Missense_R328W exm1039387 12 113553481 [T/C] NM_001193521,NM_001193520,NM_004658 RASAL1,RASAL1,RASAL1 EXON Missense_R321H,Missense_R321H,Missense_R321H exm1039397 12 113553810 [A/G] NM_001193521,NM_001193520,NM_004658 RASAL1,RASAL1,RASAL1 EXON Missense_R260C,Missense_R260C,Missense_R260C exm1039425 12 113565637 [A/G] NM_001193521,NM_001193520,NM_004658 RASAL1,RASAL1,RASAL1 EXON Missense_A93V,Missense_A93V,Missense_A93V exm1039427 12 113565652 [A/G] NM_001193521,NM_001193520,NM_004658 RASAL1,RASAL1,RASAL1 EXON Missense_S88L,Missense_S88L,Missense_S88L exm1039433 12 113565892 [A/C] NM_001193521,NM_001193520,NM_004658 RASAL1,RASAL1,RASAL1 EXON Missense_V72L,Missense_V72L,Missense_V72L exm1039434 12 113565928 [A/G] NM_001193521,NM_001193520,NM_004658 RASAL1,RASAL1,RASAL1 EXON Missense_H60Y,Missense_H60Y,Missense_H60Y exm1754082 12 113565948 [A/C] NM_001193521,NM_001193520,NM_004658 RASAL1,RASAL1,RASAL1 EXON Missense_W53L,Missense_W53L,Missense_W53L exm1039441 12 113568706 [T/C] NM_001193521,NM_001193520,NM_004658 RASAL1,RASAL1,RASAL1 EXON Missense_D36N,Missense_D36N,Missense_D36N exm1039443 12 113568723 [A/C] NM_001193521,NM_001193520,NM_004658 RASAL1,RASAL1,RASAL1 EXON Missense_C30F,Missense_C30F,Missense_C30F exm1039446 12 113573203 [A/G] NM_001193521,NM_001193520,NM_004658 RASAL1,RASAL1,RASAL1 EXON Missense_V22A,Missense_V22A,Missense_V22A exm1039449 12 113573237 [C/G] NM_001193521,NM_001193520,NM_004658 RASAL1,RASAL1,RASAL1 EXON Missense_V11L,Missense_V11L,Missense_V11L exm1039452 12 113587667 [T/C] NM_001144872 CCDC42B EXON Missense_A2V exm1039459 12 113589799 [A/G] NM_001144872 CCDC42B EXON Missense_A45T exm1039461 12 113590684 [T/A] NM_001144872 CCDC42B EXON Missense_F87I exm1039480 12 113596758 [T/C] NM_001144872,NM_001111322,NM_024072 CCDC42B,DDX54,DDX54 EXON Silent,Missense_R858H,Missense_R857H exm1039483 12 113596798 [A/G] NM_001144872,NM_001111322,NM_024072 CCDC42B,DDX54,DDX54 EXON Silent,Missense_R845C,Missense_R844C exm1039489 12 113596866 [A/G] NM_001144872,NM_001111322,NM_024072 CCDC42B,DDX54,DDX54 EXON Silent,Missense_P822L,Missense_P821L exm1039494 12 113599081 [T/C] NM_001111322,NM_024072 DDX54,DDX54 EXON Missense_G803S,Missense_G803S exm1039496 12 113599104 [C/G] NM_001111322,NM_024072 DDX54,DDX54 EXON Missense_R795P,Missense_R795P exm1039513 12 113600827 [T/C] NM_001111322,NM_024072 DDX54,DDX54 EXON Missense_G702E,Missense_G702E exm1754098 12 113600831 [G/C] NM_001111322,NM_024072 DDX54,DDX54 EXON Missense_G701R,Missense_G701R exm1039527 12 113602051 [T/C] NM_001111322,NM_024072 DDX54,DDX54 EXON Missense_S587G,Missense_S587G exm1039529 12 113602062 [T/C] NM_001111322,NM_024072 DDX54,DDX54 EXON Missense_R583Q,Missense_R583Q exm1039535 12 113603459 [T/C] NM_001111322,NM_024072 DDX54,DDX54 EXON Missense_R570H,Missense_R570H exm1039544 12 113603678 [A/G] NM_001111322,NM_024072 DDX54,DDX54 EXON Missense_A525V,Missense_A525V exm1039545 12 113603681 [A/G] NM_001111322,NM_024072 DDX54,DDX54 EXON Missense_P524L,Missense_P524L exm1039547 12 113603685 [A/G] NM_001111322,NM_024072 DDX54,DDX54 EXON Missense_R523C,Missense_R523C exm1039549 12 113603706 [A/G] NM_001111322,NM_024072 DDX54,DDX54 EXON Nonsense_Q516X,Nonsense_Q516X exm1039563 12 113610190 [A/G] NM_001111322,NM_024072 DDX54,DDX54 EXON Missense_P416L,Missense_P416L exm1039566 12 113610214 [T/C] NM_001111322,NM_024072 DDX54,DDX54 EXON Missense_D408G,Missense_D408G exm1039569 12 113610227 [T/C] NM_001111322,NM_024072 DDX54,DDX54 EXON Missense_I404V,Missense_I404V exm1039574 12 113612455 [T/C] NM_001111322,NM_024072 DDX54,DDX54 EXON Missense_Y353C,Missense_Y353C exm1039593 12 113612915 [T/C] NM_001111322,NM_024072 DDX54,DDX54 EXON Missense_R267H,Missense_R267H exm1039604 12 113614897 [T/G] NM_001111322,NM_024072 DDX54,DDX54 EXON Missense_M206L,Missense_M206L exm1039614 12 113617007 [T/C] NM_001111322,NM_024072 DDX54,DDX54 EXON Missense_A169T,Missense_A169T exm1039615 12 113617016 [T/C] NM_001111322,NM_024072 DDX54,DDX54 EXON Missense_G166R,Missense_G166R exm1039628 12 113617804 [G/C] NM_001111322,NM_024072 DDX54,DDX54 EXON Missense_S104T,Missense_S104T exm1039635 12 113618739 [A/G] NM_001111322,NM_024072 DDX54,DDX54 EXON Missense_S100F,Missense_S100F exm1039637 12 113618781 [T/C] NM_001111322,NM_024072 DDX54,DDX54 EXON Missense_R86H,Missense_R86H exm1039639 12 113618826 [A/G] NM_001111322,NM_024072 DDX54,DDX54 EXON Missense_S71L,Missense_S71L exm1039649 12 113623217 [C/G] NM_001111322,NM_024072 DDX54,DDX54 EXON Missense_R14G,Missense_R14G exm1039662 12 113624615 [T/C] NM_032848 C12orf52 EXON Nonsense_R22X exm1039668 12 113624763 [T/C] NM_032848 C12orf52 EXON Missense_S71L exm1039672 12 113624819 [T/C] NM_032848 C12orf52 EXON Missense_P90S exm2250607 12 113629139 [T/C] NM_032848 C12orf52 EXON Synonymous_Y109Y exm1039674 12 113629164 [T/C] NM_032848 C12orf52 EXON Nonsense_R118X exm1039678 12 113629194 [T/C] NM_032848 C12orf52 EXON Missense_R128W exm1039692 12 113629386 [T/C] NM_032848 C12orf52 EXON Missense_R192C exm1039693 12 113629399 [A/G] NM_032848 C12orf52 EXON Missense_R196Q exm1039697 12 113629471 [A/C] NM_032848 C12orf52 EXON Missense_T220K exm1039709 12 113633532 [T/C] NM_138451 IQCD EXON Missense_M298V exm1039712 12 113633553 [A/C] NM_138451 IQCD EXON Missense_A291S exm1039734 12 113645400 [T/C] NM_138451 IQCD EXON Missense_R191H exm1039735 12 113645401 [A/G] NM_138451 IQCD EXON Missense_R191C exm1039738 12 113645509 [T/C] NM_138451 IQCD EXON Missense_V155I exm1039740 12 113645566 [C/G] NM_138451 IQCD EXON Missense_L136V exm1039757 12 113645916 [T/C] NM_138451 IQCD EXON Missense_R19K exm1039758 12 113645937 [T/C] NM_138451 IQCD EXON Missense_Y12C exm2219939 12 113659260 [T/C] NM_001143819,NM_017901 TPCN1,TPCN1 EXON Silent,Silent exm1039766 12 113664623 [A/G] NM_001143819,NM_017901 TPCN1,TPCN1 EXON Missense_G61E,Silent exm1039770 12 113698178 [A/G] NM_001143819,NM_017901 TPCN1,TPCN1 EXON Missense_G112S,Missense_G40S exm1039778 12 113704091 [T/C] NM_001143819,NM_017901 TPCN1,TPCN1 EXON Missense_T187M,Missense_T115M exm1039784 12 113704142 [A/C] NM_001143819,NM_017901 TPCN1,TPCN1 EXON Missense_A204E,Missense_A132E exm1039791 12 113706551 [T/C] NM_001143819,NM_017901 TPCN1,TPCN1 EXON Missense_S250L,Missense_S178L exm1039801 12 113707649 [T/C] NM_001143819,NM_017901 TPCN1,TPCN1 EXON Synonymous_L321L,Synonymous_L249L exm1039814 12 113715138 [T/G] NM_001143819,NM_017901 TPCN1,TPCN1 EXON Missense_A457S,Missense_A385S exm1039816 12 113715160 [T/C] NM_001143819,NM_017901 TPCN1,TPCN1 EXON Missense_P464L,Missense_P392L exm1039829 12 113722543 [T/C] NM_001143819,NM_017901 TPCN1,TPCN1 EXON Missense_H546Y,Missense_H474Y exm1039835 12 113723724 [T/C] NM_001143819,NM_017901 TPCN1,TPCN1 EXON Missense_A567V,Missense_A495V exm2250608 12 113724837 [A/G] NM_001143819,NM_017901 TPCN1,TPCN1 EXON Synonymous_A596A,Synonymous_A524A exm1039842 12 113724871 [A/G] NM_001143819,NM_017901 TPCN1,TPCN1 EXON Missense_V608M,Missense_V536M exm1039844 12 113724886 [G/C] NM_001143819,NM_017901 TPCN1,TPCN1 EXON Missense_L613V,Missense_L541V exm1039848 12 113726013 [C/G] NM_001143819,NM_017901 TPCN1,TPCN1 EXON Missense_M632I,Missense_M560I exm1754247 12 113728017 [A/C] NM_001143819,NM_017901 TPCN1,TPCN1 EXON Synonymous_L699L,Synonymous_L627L exm2250609 12 113728017 [A/C] NM_001143819,NM_017901 TPCN1,TPCN1 EXON Synonymous_L699L,Synonymous_L627L exm1039873 12 113728758 [A/G] NM_001143819,NM_017901 TPCN1,TPCN1 EXON Synonymous_V710V,Synonymous_V638V exm1039877 12 113729420 [A/G] NM_001143819,NM_017901 TPCN1,TPCN1 EXON Missense_V728I,Missense_V656I exm1039889 12 113730816 [T/C] NM_001143819,NM_017901 TPCN1,TPCN1 EXON Missense_R803W,Missense_R731W exm1039896 12 113731084 [T/C] NM_001143819,NM_017901 TPCN1,TPCN1 EXON Missense_M827T,Missense_M755T exm2219943 12 113737661 [T/C] NM_024959 SLC24A6 EXON Missense_C559Y exm1039915 12 113737752 [T/C] NM_024959 SLC24A6 EXON Missense_V529I exm1039923 12 113744338 [T/C] NM_024959 SLC24A6 EXON Missense_R485Q exm1039927 12 113745529 [A/G] NM_024959 SLC24A6 EXON Missense_L460F exm1039929 12 113745574 [A/G] NM_024959 SLC24A6 EXON Missense_R445W exm1039941 12 113748107 [T/C] NM_024959 SLC24A6 EXON Missense_A397T exm1039944 12 113748128 [T/C] NM_024959 SLC24A6 EXON Missense_V390I exm1039952 12 113753203 [A/G] NM_024959 SLC24A6 EXON Missense_L358F exm1754291 12 113754444 [C/G] NM_024959 SLC24A6 EXON Missense_L294V exm1039960 12 113754446 [A/G] NM_024959 SLC24A6 EXON Missense_P293L exm1039978 12 113756835 [G/C] NM_024959 SLC24A6 EXON Missense_L246V exm1039981 12 113758166 [A/G] NM_024959 SLC24A6 EXON Missense_R222C exm2250610 12 113758872 [A/G] NM_024959 SLC24A6 EXON Synonymous_T117T exm1040004 12 113758880 [A/C] NM_024959 SLC24A6 EXON Nonsense_G115X exm1040011 12 113759020 [A/G] NM_024959 SLC24A6 EXON Missense_P97L exm1040015 12 113759104 [T/C] NM_024959 SLC24A6 EXON Missense_R69Q exm1040021 12 113770578 [T/C] NM_024959 SLC24A6 EXON Missense_I36V exm1040030 12 113796430 [A/C] NM_001159727,NM_173542 PLBD2,PLBD2 EXON Missense_P9T,Missense_P9T exm1040048 12 113810496 [A/G] NM_001159727,NM_173542 PLBD2,PLBD2 EXON Missense_G143S,Missense_G143S exm1040050 12 113810569 [A/C] NM_001159727,NM_173542 PLBD2,PLBD2 EXON Missense_Q167P,Missense_Q167P exm1040064 12 113812714 [A/G] NM_001159727,NM_173542 PLBD2,PLBD2 EXON Missense_Q254R,Missense_Q254R exm1040076 12 113822012 [T/C] NM_001159727,NM_173542 PLBD2,PLBD2 EXON Missense_R354C,Missense_R354C exm1040078 12 113822030 [A/G] NM_001159727,NM_173542 PLBD2,PLBD2 EXON Missense_A360T,Missense_A360T exm1040083 12 113822717 [A/G] NM_001159727,NM_173542 PLBD2,PLBD2 EXON Silent,Missense_G394R exm1040084 12 113822724 [A/G] NM_001159727,NM_173542 PLBD2,PLBD2 EXON Silent,Missense_R396Q exm1040089 12 113823046 [T/C] NM_001159727,NM_173542 PLBD2,PLBD2 EXON Missense_S383L,Missense_S415L exm1040090 12 113823050 [C/G] NM_001159727,NM_173542 PLBD2,PLBD2 EXON Missense_E384D,Missense_E416D exm1040097 12 113824804 [A/G] NM_001159727,NM_173542 PLBD2,PLBD2 EXON Nonsense_W418X,Nonsense_W450X exm1040107 12 113825679 [T/C] NM_001159727,NM_173542 PLBD2,PLBD2 EXON Missense_R492C,Missense_R524C exm1040111 12 113826304 [T/C] NM_001159727,NM_173542 PLBD2,PLBD2 EXON Missense_A516V,Missense_A548V exm1040120 12 113826406 [T/C] NM_001159727,NM_173542 PLBD2,PLBD2 EXON Missense_A550V,Missense_A582V exm1040126 12 113830763 [T/C] NM_006843 SDS EXON Missense_N324D exm1040137 12 113830947 [A/C] NM_006843 SDS EXON Missense_E262D exm1040151 12 113835132 [A/G] NM_006843 SDS EXON Missense_A164V exm1040160 12 113836516 [T/C] NM_006843 SDS EXON Missense_G110D exm1040168 12 113836633 [A/G] NM_006843 SDS EXON Missense_A71V exm1040170 12 113836650 [T/C] NM_006843 SDS EXON Synonymous_A65A exm1040181 12 113837452 [T/G] NM_006843 SDS EXON Missense_K21T exm1040184 12 113865861 [T/C] NM_138432 SDSL EXON Missense_A25V exm1040187 12 113865873 [T/G] NM_138432 SDSL EXON Missense_V29G exm1040190 12 113865935 [T/C] NM_138432 SDSL EXON Missense_R50W exm1040200 12 113867036 [A/G] NM_138432 SDSL EXON Missense_E96K exm2275345 12 113871944 [A/G] NM_138432 SDSL EXON Nonsense_W120X exm1040209 12 113871985 [A/G] NM_138432 SDSL EXON Missense_D134G exm1040219 12 113873316 [T/C] NM_138432 SDSL EXON Missense_A209V exm1040222 12 113873337 [T/C] NM_138432 SDSL EXON Missense_L216P exm1040225 12 113874590 [A/G] NM_138432 SDSL EXON Missense_A236T exm1040226 12 113874594 [A/G] NM_138432 SDSL EXON Missense_R237Q exm1040227 12 113874611 [T/C] NM_138432 SDSL EXON Nonsense_Q243X exm1040233 12 113874680 [A/G] NM_138432 SDSL EXON Missense_D266N exm1040234 12 113874681 [A/G] NM_138432 SDSL Silent exm1040259 12 113901361 [A/G] NM_022363 LHX5 EXON Synonymous_D281D exm1040269 12 113906140 [A/G] NM_022363 LHX5 EXON Missense_T156M exm1040278 12 113907149 [A/G] NM_022363 LHX5 EXON Missense_R59C exm-rs11066587 12 113979656 [G/C] exm-rs7958163 12 114275242 [A/C] NM_001146699,NM_016196,NM_001146698 RBM19,RBM19,RBM19 Silent,Silent,Silent exm1040292 12 114282474 [A/G] NM_001146699,NM_016196,NM_001146698 RBM19,RBM19,RBM19 EXON Synonymous_H928H,Synonymous_H928H,Synonymous_H928H exm1040293 12 114282487 [A/G] NM_001146699,NM_016196,NM_001146698 RBM19,RBM19,RBM19 EXON Missense_A924V,Missense_A924V,Missense_A924V exm1040295 12 114282496 [T/C] NM_001146699,NM_016196,NM_001146698 RBM19,RBM19,RBM19 EXON Missense_R921Q,Missense_R921Q,Missense_R921Q exm1754444 12 114296675 [T/C] NM_001146699,NM_016196,NM_001146698 RBM19,RBM19,RBM19 EXON Missense_R862H,Missense_R862H,Missense_R862H exm1040309 12 114352786 [T/C] NM_001146699,NM_016196,NM_001146698 RBM19,RBM19,RBM19 EXON Missense_R849Q,Missense_R849Q,Missense_R849Q exm1040315 12 114352860 [T/G] NM_001146699,NM_016196,NM_001146698 RBM19,RBM19,RBM19 EXON Missense_Q824H,Missense_Q824H,Missense_Q824H exm1754449 12 114352870 [T/C] NM_001146699,NM_016196,NM_001146698 RBM19,RBM19,RBM19 EXON Missense_R821Q,Missense_R821Q,Missense_R821Q exm1040322 12 114358421 [A/G] NM_001146699,NM_016196,NM_001146698 RBM19,RBM19,RBM19 EXON Missense_L794F,Missense_L794F,Missense_L794F exm1040325 12 114358453 [T/G] NM_001146699,NM_016196,NM_001146698 RBM19,RBM19,RBM19 EXON Missense_K783T,Missense_K783T,Missense_K783T exm1040336 12 114364936 [T/C] NM_001146699,NM_016196,NM_001146698 RBM19,RBM19,RBM19 EXON Missense_E723K,Missense_E723K,Missense_E723K exm1754459 12 114374887 [A/T] NM_001146699,NM_016196,NM_001146698 RBM19,RBM19,RBM19 EXON Missense_T665S,Missense_T665S,Missense_T665S exm1040343 12 114374917 [C/G] NM_001146699,NM_016196,NM_001146698 RBM19,RBM19,RBM19 EXON Missense_E655Q,Missense_E655Q,Missense_E655Q exm1040346 12 114377835 [A/G] NM_001146699,NM_016196,NM_001146698 RBM19,RBM19,RBM19 EXON Missense_I623T,Missense_I623T,Missense_I623T exm1040349 12 114377877 [T/C] NM_001146699,NM_016196,NM_001146698 RBM19,RBM19,RBM19 EXON Missense_H609R,Missense_H609R,Missense_H609R exm1040366 12 114380175 [T/C] NM_001146699,NM_016196,NM_001146698 RBM19,RBM19,RBM19 EXON Missense_R564Q,Missense_R564Q,Missense_R564Q exm1040369 12 114380215 [A/G] NM_001146699,NM_016196,NM_001146698 RBM19,RBM19,RBM19 EXON Missense_R551C,Missense_R551C,Missense_R551C exm1040375 12 114383659 [T/C] NM_001146699,NM_016196,NM_001146698 RBM19,RBM19,RBM19 EXON Missense_A534T,Missense_A534T,Missense_A534T exm1040378 12 114383683 [T/C] NM_001146699,NM_016196,NM_001146698 RBM19,RBM19,RBM19 EXON Missense_D526N,Missense_D526N,Missense_D526N exm1040390 12 114385269 [T/C] NM_001146699,NM_016196,NM_001146698 RBM19,RBM19,RBM19 EXON Missense_G426D,Missense_G426D,Missense_G426D exm1040392 12 114386639 [A/G] NM_001146699,NM_016196,NM_001146698 RBM19,RBM19,RBM19 EXON Synonymous_Y425Y,Synonymous_Y425Y,Synonymous_Y425Y exm1040410 12 114387900 [A/G] NM_001146699,NM_016196,NM_001146698 RBM19,RBM19,RBM19 EXON Missense_R354W,Missense_R354W,Missense_R354W exm1040411 12 114387907 [T/A] NM_001146699,NM_016196,NM_001146698 RBM19,RBM19,RBM19 EXON Missense_K351N,Missense_K351N,Missense_K351N exm1040422 12 114392976 [A/T] NM_001146699,NM_016196,NM_001146698 RBM19,RBM19,RBM19 EXON Missense_H294L,Missense_H294L,Missense_H294L exm1040431 12 114395651 [T/C] NM_001146699,NM_016196,NM_001146698 RBM19,RBM19,RBM19 EXON Missense_K259R,Missense_K259R,Missense_K259R exm1040433 12 114395678 [G/C] NM_001146699,NM_016196,NM_001146698 RBM19,RBM19,RBM19 EXON Missense_T250S,Missense_T250S,Missense_T250S exm1754491 12 114395682 [T/C] NM_001146699,NM_016196,NM_001146698 RBM19,RBM19,RBM19 EXON Missense_A249T,Missense_A249T,Missense_A249T exm1040436 12 114395727 [T/C] NM_001146699,NM_016196,NM_001146698 RBM19,RBM19,RBM19 EXON Missense_V234M,Missense_V234M,Missense_V234M exm1040439 12 114395768 [A/G] NM_001146699,NM_016196,NM_001146698 RBM19,RBM19,RBM19 EXON Missense_S220L,Missense_S220L,Missense_S220L exm1040441 12 114395805 [T/C] NM_001146699,NM_016196,NM_001146698 RBM19,RBM19,RBM19 EXON Missense_M208V,Missense_M208V,Missense_M208V exm1040452 12 114397065 [T/C] NM_001146699,NM_016196,NM_001146698 RBM19,RBM19,RBM19 EXON Missense_D175N,Missense_D175N,Missense_D175N exm1040454 12 114397071 [T/C] NM_001146699,NM_016196,NM_001146698 RBM19,RBM19,RBM19 EXON Missense_D173N,Missense_D173N,Missense_D173N exm1040455 12 114397098 [T/C] NM_001146699,NM_016196,NM_001146698 RBM19,RBM19,RBM19 EXON Missense_K164E,Missense_K164E,Missense_K164E exm1040461 12 114397160 [T/C] NM_001146699,NM_016196,NM_001146698 RBM19,RBM19,RBM19 EXON Missense_R143Q,Missense_R143Q,Missense_R143Q exm1040474 12 114400044 [T/C] NM_001146699,NM_016196,NM_001146698 RBM19,RBM19,RBM19 EXON Missense_R71Q,Missense_R71Q,Missense_R71Q exm1040475 12 114400065 [T/C] NM_001146699,NM_016196,NM_001146698 RBM19,RBM19,RBM19 EXON Missense_K64R,Missense_K64R,Missense_K64R exm1754504 12 114400102 [T/C] NM_001146699,NM_016196,NM_001146698 RBM19,RBM19,RBM19 EXON Missense_E52K,Missense_E52K,Missense_E52K exm1040478 12 114400138 [T/C] NM_001146699,NM_016196,NM_001146698 RBM19,RBM19,RBM19 EXON Missense_K40E,Missense_K40E,Missense_K40E exm2250613 12 114484640 [A/C] exm2271871 12 114646834 [T/C] exm-rs7972509 12 114713515 [T/C] exm-rs883079 12 114793240 [T/C] NM_000192,NM_181486,NM_080717 TBX5,TBX5,TBX5 EXON Silent,Silent,Silent exm1040500 12 114793513 [T/C] NM_000192,NM_181486,NM_080717 TBX5,TBX5,TBX5 EXON Missense_V461M,Missense_V461M,Missense_V411M exm1040506 12 114793660 [T/C] NM_000192,NM_181486,NM_080717 TBX5,TBX5,TBX5 EXON Missense_V412I,Missense_V412I,Missense_V362I exm-rs3825214 12 114795443 [A/G] NM_000192,NM_181486,NM_080717 TBX5,TBX5,TBX5 Silent,Silent,Silent exm1040523 12 114803946 [T/C] NM_000192,NM_181486,NM_080717 TBX5,TBX5,TBX5 Silent,Silent,Silent exm1040524 12 114803954 [A/G] NM_000192,NM_181486,NM_080717 TBX5,TBX5,TBX5 Silent,Silent,Silent exm1040525 12 114804057 [T/C] NM_000192,NM_181486,NM_080717 TBX5,TBX5,TBX5 EXON Missense_G299S,Missense_G299S,Missense_G249S exm1040527 12 114804116 [T/C] NM_000192,NM_181486,NM_080717 TBX5,TBX5,TBX5 EXON Missense_R279Q,Missense_R279Q,Missense_R229Q exm1040531 12 114804125 [T/C] NM_000192,NM_181486,NM_080717 TBX5,TBX5,TBX5 EXON Missense_S276N,Missense_S276N,Missense_S226N exm1040533 12 114804165 [T/C] NM_000192,NM_181486,NM_080717 TBX5,TBX5,TBX5 EXON Missense_V263M,Missense_V263M,Missense_V213M exm1040541 12 114832596 [A/C] NM_000192,NM_181486,NM_080717 TBX5,TBX5,TBX5 EXON Missense_V205F,Missense_V205F,Missense_V155F exm1040553 12 114837349 [A/C] NM_000192,NM_181486,NM_080717 TBX5,TBX5,TBX5 EXON Missense_D111Y,Missense_D111Y,Missense_D61Y exm1040555 12 114837364 [T/C] NM_000192,NM_181486,NM_080717 TBX5,TBX5,TBX5 EXON Missense_I106V,Missense_I106V,Missense_I56V exm1040562 12 114841589 [A/G] NM_000192,NM_181486,NM_080717 TBX5,TBX5,TBX5 EXON Missense_P39S,Missense_P39S,Silent exm1040569 12 114841649 [A/C] NM_000192,NM_181486,NM_080717 TBX5,TBX5,TBX5 EXON Missense_A19S,Missense_A19S,Silent exm-rs16944514 12 115041895 [T/C] exm-rs11067228 12 115094260 [A/G] exm1040586 12 115110028 [A/G] NM_016569,NM_005996 TBX3,TBX3 EXON Missense_A617V,Missense_A597V exm1040605 12 115112472 [T/C] NM_016569,NM_005996 TBX3,TBX3 EXON Missense_R423Q,Missense_R403Q exm1040611 12 115112554 [T/A] NM_016569,NM_005996 TBX3,TBX3 EXON Missense_S396T,Missense_S376T exm1040614 12 115112586 [T/C] NM_016569,NM_005996 TBX3,TBX3 EXON Missense_H385R,Missense_H365R exm1040632 12 115117414 [T/C] NM_016569,NM_005996 TBX3,TBX3 EXON Missense_I254V,Missense_I234V exm2271799 12 115179246 [T/G] exm-rs1896312 12 115346424 [T/C] exm-rs2384550 12 115352731 [A/G] exm-rs7966651 12 115371958 [T/C] exm-rs2194980 12 115502718 [A/G] exm-rs35444 12 115552437 [A/G] exm2250616 12 115589524 [T/C] exm-rs7315438 12 115891403 [T/C] exm-rs1463630 12 116060432 [T/C] exm2267471 12 116162616 [A/G] exm2264483 12 116335519 [A/C] exm1040736 12 116421024 [G/C] NM_015335 MED13L EXON Missense_T1618S exm1040739 12 116421133 [T/A] NM_015335 MED13L EXON Missense_S1582T exm1040742 12 116421180 [A/G] NM_015335 MED13L EXON Missense_S1566L exm1040743 12 116421186 [A/G] NM_015335 MED13L EXON Missense_P1564L exm1040747 12 116421994 [A/G] NM_015335 MED13L EXON Missense_H1508Y exm1040755 12 116422057 [T/G] NM_015335 MED13L EXON Missense_P1487T exm1040770 12 116428893 [A/G] NM_015335 MED13L EXON Missense_P1289L exm1040773 12 116429001 [A/G] NM_015335 MED13L EXON Missense_T1253I exm1040781 12 116429242 [T/C] NM_015335 MED13L EXON Missense_G1173S exm1040782 12 116429247 [T/C] NM_015335 MED13L EXON Missense_K1171R exm1040792 12 116429545 [T/C] NM_015335 MED13L EXON Missense_V1072I exm1040829 12 116446308 [T/C] NM_015335 MED13L EXON Missense_R637H exm1040830 12 116446314 [T/C] NM_015335 MED13L EXON Missense_S635N exm1040831 12 116446341 [A/G] NM_015335 MED13L EXON Missense_P626L exm1040832 12 116446347 [A/G] NM_015335 MED13L EXON Missense_S624L exm1040848 12 116446654 [T/C] NM_015335 MED13L EXON Missense_S522G exm1040858 12 116446935 [T/C] NM_015335 MED13L EXON Missense_H428R exm1040871 12 116457030 [T/G] NM_015335 MED13L EXON Synonymous_L336L exm1040873 12 116457069 [T/C] NM_015335 MED13L EXON Missense_M323I exm1040880 12 116457729 [T/C] NM_015335 MED13L EXON Missense_Y225C exm1040881 12 116457747 [A/G] NM_015335 MED13L EXON Missense_T219M exm1040896 12 116534535 [T/C] NM_015335 MED13L EXON Missense_V140I exm-rs2102294 12 116991459 [A/G] exm-rs2089222 12 117002658 [A/G] NM_001085481 MAP1LC3B2 Silent exm1040948 12 117013808 [T/C] NM_001085481 MAP1LC3B2 EXON Nonsense_R21X exm1040955 12 117013953 [A/G] NM_001085481 MAP1LC3B2 EXON Missense_R69K exm1040960 12 117014099 [A/G] NM_001085481 MAP1LC3B2 EXON Missense_T118A exm2267394 12 117082846 [A/G] exm1040976 12 117157653 [T/C] NM_024738 C12orf49 EXON Missense_R150Q exm1040977 12 117157656 [T/C] NM_024738 C12orf49 EXON Missense_N149S exm2276825 12 117160873 [A/G] NM_024738 C12orf49 EXON Synonymous_L89L exm1040992 12 117160931 [T/C] NM_024738 C12orf49 EXON Missense_R70H exm1040995 12 117160976 [T/C] NM_024738 C12orf49 EXON Missense_Q55R exm1041001 12 117175608 [T/C] NM_024738 C12orf49 EXON Missense_S33N exm1754835 12 117187950 [A/G] NM_001109903,NM_032814 RNFT2,RNFT2 EXON Missense_V130M,Missense_V130M exm1041028 12 117188111 [T/C] NM_001109903,NM_032814 RNFT2,RNFT2 EXON Synonymous_L183L,Synonymous_L183L exm1041032 12 117191840 [T/C] NM_001109903,NM_032814 RNFT2,RNFT2 EXON Missense_T201M,Missense_T201M exm1041038 12 117204676 [G/C] NM_001109903,NM_032814 RNFT2,RNFT2 EXON Missense_L229V,Missense_L229V exm1041040 12 117204691 [A/T] NM_001109903,NM_032814 RNFT2,RNFT2 EXON Missense_T234S,Missense_T234S exm1041041 12 117217015 [T/G] NM_001109903,NM_032814 RNFT2,RNFT2 EXON Missense_K248N,Missense_K248N exm1041055 12 117273783 [T/C] NM_001109903,NM_032814 RNFT2,RNFT2 EXON Missense_R351C,Missense_R351C exm1041056 12 117273786 [A/G] NM_001109903,NM_032814 RNFT2,RNFT2 EXON Missense_V352M,Missense_V352M exm1041059 12 117274034 [A/G] NM_001109903,NM_032814 RNFT2,RNFT2 EXON Missense_I383V,Missense_I383V exm2219972 12 117383245 [T/C] NM_012174,NM_153348 FBXW8,FBXW8 EXON Missense_P101L,Missense_P167L exm1041100 12 117383298 [T/C] NM_012174,NM_153348 FBXW8,FBXW8 EXON Nonsense_R119X,Nonsense_R185X exm1041101 12 117383311 [A/C] NM_012174,NM_153348 FBXW8,FBXW8 EXON Missense_H123P,Missense_H189P exm1041102 12 117383320 [A/G] NM_012174,NM_153348 FBXW8,FBXW8 EXON Missense_R126Q,Missense_R192Q exm1041106 12 117387465 [A/G] NM_012174,NM_153348 FBXW8,FBXW8 EXON Missense_T145A,Missense_T211A exm1041112 12 117402583 [C/G] NM_012174,NM_153348 FBXW8,FBXW8 EXON Missense_E187D,Missense_E253D exm2250622 12 117423156 [T/C] NM_012174,NM_153348 FBXW8,FBXW8 EXON Synonymous_P261P,Synonymous_P327P exm1041126 12 117426564 [A/G] NM_012174,NM_153348 FBXW8,FBXW8 EXON Missense_A311T,Missense_A377T exm1041137 12 117448158 [T/C] NM_012174,NM_153348 FBXW8,FBXW8 EXON Missense_R358C,Missense_R424C exm1041140 12 117461953 [A/G] NM_012174,NM_153348 FBXW8,FBXW8 EXON Missense_V391M,Missense_V457M exm1041144 12 117462049 [A/G] NM_012174,NM_153348 FBXW8,FBXW8 EXON Missense_V423I,Missense_V489I exm1041147 12 117462095 [T/C] NM_012174,NM_153348 FBXW8,FBXW8 EXON Missense_M438T,Missense_M504T exm1041150 12 117465204 [T/C] NM_012174,NM_153348 FBXW8,FBXW8 EXON Missense_P450L,Missense_P516L exm1041151 12 117465224 [A/G] NM_012174,NM_153348 FBXW8,FBXW8 EXON Missense_S457G,Missense_S523G exm1041156 12 117465264 [T/C] NM_012174,NM_153348 FBXW8,FBXW8 EXON Missense_T470M,Missense_T536M exm1041161 12 117465838 [A/G] NM_012174,NM_153348 FBXW8,FBXW8 EXON Missense_R487Q,Missense_R553Q exm1041164 12 117465852 [A/G] NM_012174,NM_153348 FBXW8,FBXW8 EXON Missense_A492T,Missense_A558T exm1041167 12 117465867 [A/G] NM_012174,NM_153348 FBXW8,FBXW8 EXON Missense_V497M,Missense_V563M exm1041171 12 117465917 [A/T] NM_012174,NM_153348 FBXW8,FBXW8 EXON Nonsense_C513X,Nonsense_C579X exm1041173 12 117465930 [T/A] NM_012174,NM_153348 FBXW8,FBXW8 EXON Missense_T518S,Missense_T584S exm1041193 12 117484381 [T/C] NM_017899,NM_001168325,NR_031766 TESC,TESC,TESC EXON Missense_V168M,Missense_V141M,Silent exm1041195 12 117484423 [T/C] NM_017899,NM_001168325,NR_031766 TESC,TESC,TESC EXON Missense_A154T,Missense_A127T,Silent exm1041267 12 117604881 [T/C] NM_015002,NM_033624 FBXO21,FBXO21 EXON Missense_A339T,Missense_A339T exm1041278 12 117612474 [T/C] NM_015002,NM_033624 FBXO21,FBXO21 EXON Missense_S241G,Missense_S241G exm1041295 12 117628132 [T/A] NM_015002,NM_033624 FBXO21,FBXO21 EXON Missense_C44S,Missense_C44S exm-rs9658570 12 117650873 [A/C] NM_001204213,NM_001204214,NM_001204218,NM_000620 NOS1,NOS1,NOS1,NOS1 EXON Silent,Silent,Silent,Silent exm1041317 12 117657993 [T/C] NM_001204213,NM_001204214,NM_001204218,NM_000620 NOS1,NOS1,NOS1,NOS1 EXON Missense_V1017I,Missense_V1017I,Missense_V1387I,Missense_V1353I exm1041355 12 117672371 [T/C] NM_001204213,NM_001204214,NM_001204218,NM_000620 NOS1,NOS1,NOS1,NOS1 EXON Synonymous_L742L,Synonymous_L742L,Synonymous_L1112L,Synonymous_L1078L exm1754999 12 117691485 [A/G] NM_001204213,NM_001204214,NM_001204218,NM_000620 NOS1,NOS1,NOS1,NOS1 EXON Missense_L533P,Missense_L533P,Missense_L903P,Missense_L869P exm1041387 12 117691498 [T/C] NM_001204213,NM_001204214,NM_001204218,NM_000620 NOS1,NOS1,NOS1,NOS1 EXON Missense_D529N,Missense_D529N,Missense_D899N,Missense_D865N exm1041389 12 117691500 [T/C] NM_001204213,NM_001204214,NM_001204218,NM_000620 NOS1,NOS1,NOS1,NOS1 EXON Missense_G528D,Missense_G528D,Missense_G898D,Missense_G864D exm1041392 12 117693744 [T/C] NM_001204213,NM_001204214,NM_001204218,NM_000620 NOS1,NOS1,NOS1,NOS1 EXON Silent,Silent,Missense_H877R,Silent exm1041399 12 117693813 [T/C] NM_001204213,NM_001204214,NM_001204218,NM_000620 NOS1,NOS1,NOS1,NOS1 EXON Silent,Silent,Missense_R854H,Silent exm1041402 12 117693817 [A/G] NM_001204213,NM_001204214,NM_001204218,NM_000620 NOS1,NOS1,NOS1,NOS1 EXON Silent,Silent,Missense_P853S,Silent exm1041403 12 117693822 [A/C] NM_001204213,NM_001204214,NM_001204218,NM_000620 NOS1,NOS1,NOS1,NOS1 EXON Silent,Silent,Missense_F851C,Silent exm1041420 12 117701743 [T/C] NM_001204213,NM_001204214,NM_001204218,NM_000620 NOS1,NOS1,NOS1,NOS1 EXON Missense_N389D,Missense_N389D,Missense_N725D,Missense_N725D exm1041438 12 117705934 [A/T] NM_001204213,NM_001204214,NM_001204218,NM_000620 NOS1,NOS1,NOS1,NOS1 EXON Missense_M283L,Missense_M283L,Missense_M619L,Missense_M619L exm1041441 12 117710246 [T/C] NM_001204213,NM_001204214,NM_001204218,NM_000620 NOS1,NOS1,NOS1,NOS1 EXON Missense_G259S,Missense_G259S,Missense_G595S,Missense_G595S exm1041460 12 117723115 [T/G] NM_001204213,NM_001204214,NM_001204218,NM_000620 NOS1,NOS1,NOS1,NOS1 EXON Missense_T102N,Missense_T102N,Missense_T438N,Missense_T438N exm1041463 12 117724018 [T/G] NM_001204213,NM_001204214,NM_001204218,NM_000620 NOS1,NOS1,NOS1,NOS1 EXON Missense_D58A,Missense_D58A,Missense_D394A,Missense_D394A exm1041470 12 117725949 [T/C] NM_001204213,NM_001204214,NM_001204218,NM_000620 NOS1,NOS1,NOS1,NOS1 EXON Missense_V17I,Missense_V17I,Missense_V353I,Missense_V353I exm1041488 12 117749339 [A/C] NM_001204218,NM_000620 NOS1,NOS1 EXON Missense_F262V,Missense_F262V exm1041493 12 117768154 [T/C] NM_001204218,NM_000620 NOS1,NOS1 EXON Missense_D241N,Missense_D241N exm1041497 12 117768316 [A/G] NM_001204218,NM_000620 NOS1,NOS1 EXON Missense_P187S,Missense_P187S exm1041498 12 117768337 [A/G] NM_001204218,NM_000620 NOS1,NOS1 EXON Missense_P180S,Missense_P180S exm1041501 12 117768411 [A/G] NM_001204218,NM_000620 NOS1,NOS1 EXON Missense_P155L,Missense_P155L exm1041502 12 117768417 [A/G] NM_001204218,NM_000620 NOS1,NOS1 EXON Missense_S153L,Missense_S153L exm1041508 12 117768540 [A/G] NM_001204218,NM_000620 NOS1,NOS1 EXON Missense_T112I,Missense_T112I exm1041521 12 117768820 [A/G] NM_001204218,NM_000620 NOS1,NOS1 EXON Missense_R19C,Missense_R19C exm2271801 12 117804875 [T/C] exm1041539 12 117908997 [A/G] NM_173598 KSR2 EXON Missense_S875L exm1041552 12 117914383 [T/C] NM_173598 KSR2 EXON Missense_R794H exm1041570 12 117962876 [A/T] NM_173598 KSR2 EXON Missense_E638V exm2250624 12 117969481 [A/G] NM_173598 KSR2 EXON Synonymous_F544F exm1041586 12 117969507 [A/G] NM_173598 KSR2 EXON Missense_H536Y exm1041587 12 117977550 [T/C] NM_173598 KSR2 EXON Missense_R525Q exm2271874 12 118106433 [T/C] NM_173598 KSR2 Silent exm1041615 12 118198833 [G/C] NM_173598 KSR2 EXON Missense_D294E exm1041630 12 118199278 [G/C] NM_173598 KSR2 EXON Missense_T146R exm2250625 12 118206910 [A/G] NM_173598 KSR2 Silent exm-rs4767631 12 118311743 [A/G] NM_173598 KSR2 Silent exm-rs10444502 12 118353871 [A/C] NM_173598 KSR2 Silent exm1041643 12 118454666 [T/C] NM_001206801,NM_007370,NM_001130112,NM_181578 RFC5,RFC5,RFC5,RFC5 EXON Missense_P12S,Missense_P12S,Silent,Silent exm1041654 12 118458744 [A/G] NM_001206801,NM_007370,NM_001130112,NM_181578 RFC5,RFC5,RFC5,RFC5 EXON Missense_I101V,Missense_I101V,Missense_I16V,Missense_I80V exm1041667 12 118462788 [A/G] NM_001206801,NM_007370,NM_001130112,NM_181578 RFC5,RFC5,RFC5,RFC5 EXON Missense_R185H,Missense_R185H,Missense_R100H,Missense_R164H exm1041691 12 118472867 [T/A] NM_018639 WSB2 EXON Missense_T326S exm1041696 12 118473095 [T/C] NM_018639 WSB2 EXON Missense_D290N exm1041706 12 118476128 [T/A] NM_018639 WSB2 EXON Missense_C209S exm2219982 12 118480667 [T/C] NM_018639 WSB2 EXON Missense_I180V exm1041715 12 118481007 [T/C] NM_018639 WSB2 EXON Missense_D120N exm1041727 12 118504457 [T/C] NM_019086 VSIG10 EXON Missense_D537G exm1041741 12 118508870 [G/C] NM_019086 VSIG10 EXON Missense_G445R exm1041746 12 118509191 [A/G] NM_019086 VSIG10 EXON Missense_H435Y exm1041760 12 118511677 [A/G] NM_019086 VSIG10 EXON Missense_T349I exm1041762 12 118511726 [T/C] NM_019086 VSIG10 EXON Missense_V333M exm1041765 12 118511768 [T/C] NM_019086 VSIG10 EXON Missense_K319E exm1041769 12 118517172 [T/C] NM_019086 VSIG10 EXON Missense_A302T exm1041772 12 118517228 [A/G] NM_019086 VSIG10 EXON Missense_S283L exm1041778 12 118517308 [T/G] NM_019086 VSIG10 EXON Missense_F256L exm1041783 12 118519933 [T/G] NM_019086 VSIG10 EXON Nonsense_Y221X exm1041801 12 118533344 [T/C] NM_019086 VSIG10 EXON Missense_V119M exm1041804 12 118533413 [T/C] NM_019086 VSIG10 EXON Missense_G96R exm1041807 12 118533432 [C/G] NM_019086 VSIG10 EXON Missense_H89Q exm1041811 12 118533464 [A/G] NM_019086 VSIG10 EXON Missense_R79C exm1755200 12 118533478 [T/C] NM_019086 VSIG10 EXON Missense_R74Q exm1041812 12 118533479 [A/G] NM_019086 VSIG10 EXON Missense_R74W exm1041818 12 118533560 [A/T] NM_019086 VSIG10 EXON Missense_I47F exm1041844 12 118582477 [T/C] NM_002567 PEBP1 EXON Missense_H145Y exm1755212 12 118588826 [A/T] NM_016281 TAOK3 EXON Missense_D891E exm1041867 12 118598056 [A/C] NM_016281 TAOK3 EXON Missense_E749D exm1041912 12 118639246 [T/C] NM_016281 TAOK3 EXON Missense_R281Q exm1041923 12 118673387 [T/C] NM_016281 TAOK3 EXON Missense_N176S exm1041924 12 118673416 [A/C] NM_016281 TAOK3 EXON Missense_F166L exm1041932 12 118681284 [T/C] NM_016281 TAOK3 EXON Missense_R77Q exm1041939 12 118693338 [T/G] NM_016281 TAOK3 EXON Missense_A12D exm1041942 12 118693368 [T/C] NM_016281 TAOK3 EXON Missense_R2H exm2259971 12 118889488 [T/G] exm2267396 12 118896304 [A/G] exm2267397 12 119171974 [A/G] exm-rs2698081 12 119294242 [A/G] exm-rs1997111 12 119387918 [A/C] exm1041979 12 119540049 [T/C] NM_194286 SRRM4 EXON Missense_P47L exm1041983 12 119540109 [T/G] NM_194286 SRRM4 EXON Missense_L67R exm1755294 12 119540138 [T/C] NM_194286 SRRM4 EXON Missense_W77R exm1041989 12 119552154 [A/G] NM_194286 SRRM4 EXON Missense_R117Q exm1041997 12 119563229 [T/C] NM_194286 SRRM4 EXON Missense_R187C exm1042014 12 119568536 [A/G] NM_194286 SRRM4 EXON Missense_R223H exm1042017 12 119568586 [T/C] NM_194286 SRRM4 EXON Missense_R240C exm1042018 12 119568596 [A/G] NM_194286 SRRM4 EXON Missense_S243N exm2219994 12 119583294 [A/C] NM_194286 SRRM4 EXON Missense_P294T exm1042031 12 119583373 [A/G] NM_194286 SRRM4 EXON Missense_R320Q exm1042036 12 119588848 [A/G] NM_194286 SRRM4 EXON Missense_C368Y exm1042037 12 119588853 [A/G] NM_194286 SRRM4 EXON Missense_E370K exm1042040 12 119588910 [T/G] NM_194286 SRRM4 EXON Missense_C389G exm1042042 12 119588917 [A/G] NM_194286 SRRM4 EXON Missense_R391H exm1042045 12 119588962 [A/G] NM_194286 SRRM4 EXON Missense_R406Q exm2274630 12 119591376 [A/C] NM_194286 SRRM4 EXON Missense_K438T exm1042055 12 119594400 [C/G] NM_194286 SRRM4 EXON Missense_A545P exm1042076 12 119617231 [A/C] NM_014365 HSPB8 EXON Missense_D38E exm1042092 12 119631571 [A/G] NM_014365 HSPB8 EXON Missense_E167K exm1042096 12 119631607 [G/C] NM_014365 HSPB8 EXON Missense_E179Q exm2271876 12 119656333 [T/G] exm1042101 12 119772991 [G/C] NM_178499 CCDC60 EXON Missense_V4L exm1042106 12 119773040 [A/G] NM_178499 CCDC60 EXON Missense_R20Q exm-rs11064768 12 119818509 [A/G] NM_178499 CCDC60 Silent exm1042110 12 119866488 [A/G] NM_178499 CCDC60 EXON Missense_V31I exm1042112 12 119866496 [A/C] NM_178499 CCDC60 EXON Missense_D33E exm1042115 12 119866533 [A/G] NM_178499 CCDC60 EXON Missense_I46V exm2267398 12 119901095 [A/G] NM_178499 CCDC60 Silent exm1042120 12 119909828 [A/G] NM_178499 CCDC60 EXON Missense_R67H exm1042126 12 119916900 [A/G] NM_178499 CCDC60 EXON Missense_T115A exm1042129 12 119916948 [T/C] NM_178499 CCDC60 EXON Missense_R131C exm1042135 12 119926589 [A/G] NM_178499 CCDC60 EXON Missense_A159T exm1042136 12 119926590 [A/C] NM_178499 CCDC60 EXON Missense_A159D exm1042137 12 119926602 [T/A] NM_178499 CCDC60 EXON Missense_L163H exm1042145 12 119937966 [A/C] NM_178499 CCDC60 EXON Missense_A214E exm1042150 12 119942926 [A/G] NM_178499 CCDC60 EXON Missense_R234Q exm1042157 12 119943064 [T/A] NM_178499 CCDC60 EXON Missense_N280I exm1042162 12 119954466 [T/C] NM_178499 CCDC60 EXON Missense_R308W exm1042163 12 119954485 [A/C] NM_178499 CCDC60 EXON Missense_E314A exm1042166 12 119957975 [A/C] NM_178499 CCDC60 EXON Missense_M340L exm1042171 12 119961503 [A/C] NM_178499 CCDC60 EXON Missense_T370N exm1042174 12 119961571 [A/G] NM_178499 CCDC60 EXON Missense_V393I exm1042175 12 119961587 [A/G] NM_178499 CCDC60 EXON Missense_G398D exm1042177 12 119961623 [A/G] NM_178499 CCDC60 EXON Missense_K410R exm1042179 12 119966487 [A/G] NM_178499 CCDC60 EXON Missense_I433V exm1042185 12 119968726 [A/G] NM_178499 CCDC60 EXON Missense_R470H exm1755397 12 119968783 [A/G] NM_178499 CCDC60 EXON Missense_R489Q exm1042191 12 119978425 [T/C] NM_178499 CCDC60 EXON Nonsense_R520X exm1042198 12 119978507 [A/G] NM_178499 CCDC60 EXON Missense_S547N exm1042199 12 119978508 [A/C] NM_178499 CCDC60 EXON Missense_S547R exm-rs7137869 12 119989646 [A/G] exm1042209 12 120067643 [A/G] NM_001136534 TMEM233 EXON Missense_I97V exm1042218 12 120106129 [T/G] NM_006253 PRKAB1 EXON Missense_G27V exm1042222 12 120110169 [A/G] NM_006253 PRKAB1 EXON Missense_A75T exm1755411 12 120111822 [A/C] NM_006253 PRKAB1 EXON Missense_K126T exm2250630 12 120111850 [T/C] NM_006253 PRKAB1 EXON Synonymous_H135H exm1042237 12 120112229 [G/C] NM_006253 PRKAB1 EXON Missense_V168L exm1042243 12 120114475 [T/C] NM_006253 PRKAB1 EXON Synonymous_S222S exm1042268 12 120135468 [A/G] NM_001206999,NM_007174 CIT,CIT EXON Missense_R1960C,Missense_R1918C exm1042270 12 120135486 [A/G] NM_001206999,NM_007174 CIT,CIT EXON Missense_R1954W,Missense_R1912W exm1042284 12 120139465 [T/C] NM_001206999,NM_007174 CIT,CIT EXON Missense_A1836T,Missense_A1794T exm1042287 12 120139663 [A/G] NM_001206999,NM_007174 CIT,CIT EXON Missense_T1802M,Missense_T1760M exm1755467 12 120151405 [A/G] NM_001206999,NM_007174 CIT,CIT EXON Missense_T1452I,Missense_T1410I exm1042345 12 120152003 [A/G] NM_001206999,NM_007174 CIT,CIT EXON Synonymous_L1435L,Synonymous_L1393L exm1042349 12 120152035 [T/C] NM_001206999,NM_007174 CIT,CIT EXON Missense_V1425M,Missense_V1383M exm1042354 12 120152068 [G/C] NM_001206999,NM_007174 CIT,CIT EXON Missense_R1414G,Missense_R1372G exm1042364 12 120156103 [A/G] NM_001206999,NM_007174 CIT,CIT EXON Missense_M1372T,Missense_M1330T exm1042371 12 120156164 [T/C] NM_001206999,NM_007174 CIT,CIT EXON Missense_A1352T,Missense_A1310T exm1042374 12 120156206 [A/G] NM_001206999,NM_007174 CIT,CIT EXON Missense_R1338C,Missense_R1296C exm1042385 12 120159205 [T/C] NM_001206999,NM_007174 CIT,CIT EXON Missense_R1214H,Missense_R1172H exm1042399 12 120172048 [T/C] NM_001206999,NM_007174 CIT,CIT EXON Missense_V1091I,Missense_V1049I exm1042406 12 120172154 [G/C] NM_001206999,NM_007174 CIT,CIT EXON Missense_E1055D,Missense_E1013D exm2271802 12 120189888 [T/C] NM_001206999,NM_007174 CIT,CIT EXON Synonymous_T957T,Synonymous_T915T exm1042428 12 120189976 [T/C] NM_001206999,NM_007174 CIT,CIT EXON Missense_R928H,Missense_R886H exm1755482 12 120190043 [G/C] NM_001206999,NM_007174 CIT,CIT EXON Missense_E906Q,Missense_E864Q exm1042459 12 120213591 [T/C] NM_001206999,NM_007174 CIT,CIT EXON Missense_K647R,Missense_K647R exm1042462 12 120214173 [T/C] NM_001206999,NM_007174 CIT,CIT EXON Missense_K626E,Missense_K626E exm1042465 12 120214504 [A/G] NM_001206999,NM_007174 CIT,CIT EXON Missense_A603V,Missense_A603V exm1042468 12 120214606 [T/G] NM_001206999,NM_007174 CIT,CIT EXON Missense_N569T,Missense_N569T exm1755520 12 120241020 [T/C] NM_001206999,NM_007174 CIT,CIT EXON Missense_G429S,Missense_G429S exm1755522 12 120241091 [A/C] NM_001206999,NM_007174 CIT,CIT EXON Missense_S405I,Missense_S405I exm1042506 12 120263003 [G/C] NM_001206999,NM_007174 CIT,CIT EXON Missense_S308C,Missense_S308C exm1042507 12 120263004 [A/C] NM_001206999,NM_007174 CIT,CIT EXON Missense_S308A,Missense_S308A exm1042511 12 120263045 [T/C] NM_001206999,NM_007174 CIT,CIT EXON Missense_Y294C,Missense_Y294C exm1042521 12 120270598 [T/C] NM_001206999,NM_007174 CIT,CIT EXON Missense_A244T,Missense_A244T exm1042525 12 120270643 [T/C] NM_001206999,NM_007174 CIT,CIT EXON Missense_V229I,Missense_V229I exm1042530 12 120271975 [C/G] NM_001206999,NM_007174 CIT,CIT EXON Missense_Q192E,Missense_Q192E exm1042531 12 120288030 [A/G] NM_001206999,NM_007174 CIT,CIT EXON Missense_P155L,Missense_P155L exm1042547 12 120306870 [A/G] NM_001206999,NM_007174 CIT,CIT EXON Missense_R78W,Missense_R78W exm1042551 12 120306959 [T/C] NM_001206999,NM_007174 CIT,CIT EXON Missense_R48Q,Missense_R48Q exm1042555 12 120313879 [T/G] NM_001206999,NM_007174 CIT,CIT EXON Missense_Q32K,Missense_Q32K exm1042558 12 120313947 [T/C] NM_001206999,NM_007174 CIT,CIT EXON Missense_R9Q,Missense_R9Q exm1042560 12 120313953 [T/C] NM_001206999,NM_007174 CIT,CIT EXON Missense_G7E,Missense_G7E exm1042561 12 120313967 [C/G] NM_001206999,NM_007174 CIT,CIT EXON Missense_L2F,Missense_L2F exm-rs11064994 12 120455764 [A/G] NM_207311 CCDC64 Silent exm1042612 12 120530855 [C/G] NM_207311 CCDC64 EXON Missense_E538Q exm1042613 12 120530858 [T/C] NM_207311 CCDC64 EXON Missense_R539W exm2271877 12 120533965 [T/C] NM_001167606,NM_006861 RAB35,RAB35 EXON Silent,Silent exm1042625 12 120535097 [A/G] NM_001167606,NM_006861 RAB35,RAB35 EXON Missense_C145R,Synonymous_D186D exm1042629 12 120536629 [T/C] NM_001167606,NM_006861 RAB35,RAB35 EXON Silent,Missense_V155I exm2220011 12 120536862 [C/G] NM_001167606,NM_006861 RAB35,RAB35 EXON Missense_Q108H,Missense_Q108H exm1042660 12 120568455 [T/C] NM_006836 GCN1L1 EXON Missense_V2556I exm1042661 12 120568467 [A/G] NM_006836 GCN1L1 EXON Missense_S2552P exm1042665 12 120568500 [T/C] NM_006836 GCN1L1 EXON Missense_E2541K exm1042666 12 120568532 [T/C] NM_006836 GCN1L1 EXON Missense_R2530Q exm1042674 12 120569132 [T/C] NM_006836 GCN1L1 EXON Missense_V2474M exm1042675 12 120569136 [T/C] NM_006836 GCN1L1 EXON Synonymous_A2472A exm1042685 12 120572361 [T/C] NM_006836 GCN1L1 EXON Missense_R2393H exm1042686 12 120572374 [A/G] NM_006836 GCN1L1 EXON Missense_L2389F exm1042692 12 120574343 [A/G] NM_006836 GCN1L1 EXON Missense_A2324V exm1042700 12 120575081 [A/G] NM_006836 GCN1L1 EXON Missense_H2236Y exm1042708 12 120575407 [T/C] NM_006836 GCN1L1 EXON Missense_N2202S exm1042710 12 120575416 [T/C] NM_006836 GCN1L1 EXON Missense_R2199H exm1042711 12 120575417 [A/G] NM_006836 GCN1L1 EXON Missense_R2199C exm1042714 12 120575549 [A/C] NM_006836 GCN1L1 EXON Missense_Y2155D exm1755618 12 120575553 [G/C] NM_006836 GCN1L1 EXON Missense_I2153M exm1755620 12 120575608 [T/C] NM_006836 GCN1L1 EXON Missense_N2135S exm1042718 12 120575778 [T/C] NM_006836 GCN1L1 EXON Missense_R2107H exm2250632 12 120580323 [T/C] NM_006836 GCN1L1 EXON Synonymous_A1939A exm1042744 12 120580409 [T/C] NM_006836 GCN1L1 EXON Missense_V1911I exm1042751 12 120580489 [T/C] NM_006836 GCN1L1 EXON Missense_R1884Q exm1042759 12 120582209 [T/C] NM_006836 GCN1L1 EXON Missense_R1799H exm1042804 12 120589001 [T/C] NM_006836 GCN1L1 EXON Missense_M1419I exm1042812 12 120589142 [G/C] NM_006836 GCN1L1 EXON Missense_E1372D exm1042814 12 120589183 [T/C] NM_006836 GCN1L1 EXON Missense_V1359I exm1042826 12 120591689 [G/C] NM_006836 GCN1L1 EXON Missense_N1242K exm1042831 12 120593045 [A/G] NM_006836 GCN1L1 EXON Synonymous_Y1210Y exm1042836 12 120593109 [T/C] NM_006836 GCN1L1 EXON Missense_R1189H exm1042839 12 120593157 [A/G] NM_006836 GCN1L1 EXON Missense_A1173V exm1042840 12 120593166 [T/C] NM_006836 GCN1L1 EXON Missense_Y1170C exm1042843 12 120593190 [A/G] NM_006836 GCN1L1 EXON Missense_S1162F exm1042847 12 120593484 [T/C] NM_006836 GCN1L1 EXON Missense_T1118A exm1042852 12 120594723 [T/C] NM_006836 GCN1L1 EXON Missense_R1054H exm1042861 12 120595678 [T/C] NM_006836 GCN1L1 EXON Missense_N1021S exm1042879 12 120597730 [C/G] NM_006836 GCN1L1 EXON Missense_S883C exm1042887 12 120599364 [T/C] NM_006836 GCN1L1 EXON Missense_K789R exm1042894 12 120599816 [T/C] NM_006836 GCN1L1 EXON Missense_R737Q exm1042903 12 120600774 [A/G] NM_006836 GCN1L1 EXON Synonymous_V680V exm1042909 12 120601014 [A/G] NM_006836 GCN1L1 EXON Missense_A633V exm1042930 12 120611473 [G/C] NM_006836 GCN1L1 EXON Missense_M450I exm1042935 12 120611911 [T/C] NM_006836 GCN1L1 EXON Missense_V386M exm1042937 12 120611959 [T/C] NM_006836 GCN1L1 EXON Missense_S370G exm1755713 12 120613558 [T/C] NM_006836 GCN1L1 EXON Missense_I345V exm1042945 12 120613588 [T/C] NM_006836 GCN1L1 EXON Missense_M335V exm1042952 12 120613944 [A/C] NM_006836 GCN1L1 Silent exm1042967 12 120615521 [A/T] NM_006836 GCN1L1 EXON Missense_L232Q exm1755722 12 120621424 [T/C] NM_006836 GCN1L1 EXON Missense_R125H exm1042985 12 120621425 [A/G] NM_006836 GCN1L1 EXON Missense_R125C exm1755761 12 120650365 [T/C] NR_038924,NM_002859,NM_001080855,NM_001243756,NM_025157 PXN-AS1,PXN,PXN,PXN,PXN EXON Silent,Missense_V476M,Missense_V510M,Missense_V524M,Missense_V343M exm1043041 12 120651676 [A/G] NM_002859,NM_001080855,NM_001243756,NM_025157 PXN,PXN,PXN,PXN EXON Missense_T459M,Missense_T493M,Missense_T507M,Missense_T326M exm1043049 12 120652642 [T/C] NM_002859,NM_001080855,NM_001243756,NM_025157 PXN,PXN,PXN,PXN EXON Missense_G388S,Missense_G422S,Missense_G436S,Missense_G255S exm1043054 12 120652725 [T/C] NM_002859,NM_001080855,NM_001243756,NM_025157 PXN,PXN,PXN,PXN EXON Missense_R360Q,Missense_R394Q,Missense_R408Q,Missense_R227Q exm1043064 12 120652925 [T/C] NM_002859,NM_001080855,NM_001243756,NM_025157 PXN,PXN,PXN,PXN EXON Missense_K328R,Missense_K362R,Missense_K376R,Missense_K195R exm1043066 12 120653019 [T/C] NM_002859,NM_001080855,NM_001243756,NM_025157 PXN,PXN,PXN,PXN EXON Missense_G297R,Missense_G331R,Missense_G345R,Missense_G164R exm1043070 12 120653371 [T/C] NM_002859,NM_001080855,NM_001243756,NM_025157 PXN,PXN,PXN,PXN EXON Silent,Missense_E309K,Silent,Silent exm1043079 12 120653458 [G/C] NM_002859,NM_001080855,NM_001243756,NM_025157 PXN,PXN,PXN,PXN EXON Silent,Missense_G280R,Silent,Silent exm1043159 12 120660762 [T/C] NM_002859,NM_001080855,NM_001243756,NM_025157 PXN,PXN,PXN,PXN EXON Missense_V133I,Missense_V133I,Missense_V133I,Silent exm1043160 12 120660773 [A/G] NM_002859,NM_001080855,NM_001243756,NM_025157 PXN,PXN,PXN,PXN EXON Missense_P129L,Missense_P129L,Missense_P129L,Silent exm1043161 12 120660780 [T/C] NM_002859,NM_001080855,NM_001243756,NM_025157 PXN,PXN,PXN,PXN EXON Missense_A127T,Missense_A127T,Missense_A127T,Silent exm1043172 12 120661636 [A/G] NM_002859,NM_001080855,NM_001243756,NM_025157 PXN,PXN,PXN,PXN EXON Missense_P81S,Missense_P81S,Missense_P81S,Silent exm1043174 12 120661977 [T/C] NM_002859,NM_001080855,NM_001243756,NM_025157 PXN,PXN,PXN,PXN EXON Missense_S73G,Missense_S73G,Missense_S73G,Silent exm1043177 12 120662127 [T/C] NM_002859,NM_001080855,NM_001243756,NM_025157 PXN,PXN,PXN,PXN EXON Missense_V23M,Missense_V23M,Missense_V23M,Silent exm1043188 12 120741366 [A/T] NM_012240 SIRT4 EXON Missense_M1K exm1043206 12 120741668 [T/C] NM_012240 SIRT4 EXON Missense_R102C exm1043207 12 120741669 [A/G] NM_012240 SIRT4 EXON Missense_R102H exm1043223 12 120750369 [A/G] NM_012240 SIRT4 EXON Missense_G203D exm1043225 12 120750374 [A/G] NM_012240 SIRT4 EXON Missense_V205I exm1043226 12 120750398 [T/C] NM_012240 SIRT4 EXON Missense_R213W exm1043228 12 120750464 [A/G] NM_012240 SIRT4 EXON Missense_G235R exm1043233 12 120750516 [A/C] NM_012240 SIRT4 EXON Missense_E252A exm1043236 12 120750530 [T/A] NM_012240 SIRT4 EXON Missense_L257M exm1043245 12 120760012 [T/C] NM_000928 PLA2G1B EXON Missense_K144R exm1043248 12 120760078 [T/C] NM_000928 PLA2G1B EXON Missense_R122H exm1043251 12 120760099 [C/G] NM_000928 PLA2G1B EXON Missense_A115G exm1043275 12 120765522 [T/C] NM_000928 PLA2G1B Silent exm1043309 12 120791153 [T/C] NM_002442 MSI1 EXON Missense_A228T exm2220020 12 120795641 [A/C] NM_002442 MSI1 EXON Missense_F171C exm2267399 12 120854564 [A/G] exm1043360 12 120876307 [C/G] NM_004373 COX6A1 EXON Missense_L77V exm1043371 12 120882691 [A/G] NM_016399 TRIAP1 EXON Missense_P72L exm1755882 12 120884571 [T/G] NM_176818,NR_033684 GATC,GATC EXON Missense_D65Y,Silent exm1043412 12 120899912 [T/G] NM_176818,NR_033684,NM_003769 GATC,GATC,SRSF9 EXON Silent,Silent,Nonsense_Y192X exm1043429 12 120907309 [T/A] NM_003769 SRSF9 EXON Missense_Y35F exm1043452 12 120941645 [A/G] NM_032314 COQ5 EXON Missense_V309A exm1043460 12 120942747 [A/G] NM_032314 COQ5 EXON Missense_R241W exm1043474 12 120954465 [T/C] NM_032314 COQ5 EXON Missense_D160G exm1043475 12 120954490 [T/C] NM_032314 COQ5 EXON Missense_A152T exm1043478 12 120954549 [T/C] NM_032314 COQ5 EXON Missense_H132R exm1043485 12 120960143 [T/C] NM_032314 COQ5 EXON Missense_A76T exm1755919 12 120966809 [T/C] NM_032314 COQ5 EXON Missense_E46K exm1043500 12 120966929 [T/C] NM_032314 COQ5 EXON Missense_S6G exm2250634 12 120984266 [T/C] NM_014868 RNF10 EXON Synonymous_P72P exm1043519 12 120984337 [T/C] NM_014868 RNF10 EXON Missense_P96L exm1043520 12 120984340 [T/C] NM_014868 RNF10 EXON Missense_P97L exm1043531 12 120992526 [A/G] NM_014868 RNF10 EXON Missense_Q187R exm1043535 12 120995118 [A/G] NM_014868 RNF10 EXON Missense_I227V exm1043540 12 120995401 [G/C] NM_014868 RNF10 EXON Missense_Q295E exm1043555 12 121000778 [A/G] NM_014868 RNF10 EXON Missense_G387R exm1043564 12 121001149 [C/G] NM_014868 RNF10 Silent exm1043581 12 121002949 [C/G] NM_014868 RNF10 EXON Missense_L580F exm1043597 12 121004739 [T/C] NM_014868 RNF10 EXON Missense_A666V exm1043604 12 121013462 [A/G] NM_014868 RNF10 EXON Missense_D724G exm1043610 12 121013657 [T/C] NM_014868 RNF10 EXON Missense_R755C exm1043613 12 121013699 [A/C] NM_014868 RNF10 EXON Missense_I769L exm1043634 12 121017612 [T/C] NM_198202,NM_015918 POP5,POP5 EXON Silent,Missense_R93H exm1043635 12 121017628 [T/C] NM_198202,NM_015918 POP5,POP5 EXON Silent,Missense_E88K exm1043642 12 121018964 [A/C] NM_198202,NM_015918 POP5,POP5 EXON Missense_R39S,Missense_R39S exm1043668 12 121088486 [A/G] NM_001033677,NM_031205,NM_004276 CABP1,CABP1,CABP1 Silent,Silent,Silent exm1043674 12 121093911 [C/G] NM_001033677,NM_031205,NM_004276 CABP1,CABP1,CABP1 EXON Silent,Missense_Q21E,Silent exm1043679 12 121093929 [A/G] NM_001033677,NM_031205,NM_004276 CABP1,CABP1,CABP1 EXON Silent,Missense_V27M,Silent exm1043710 12 121098925 [A/C] NM_001033677,NM_031205,NM_004276 CABP1,CABP1,CABP1 EXON Missense_M331L,Missense_M188L,Missense_M128L exm2271803 12 121112429 [T/C] exm1043733 12 121132786 [T/C] NM_014730 MLEC EXON Missense_Y192H exm1043735 12 121134180 [A/C] NM_014730 MLEC EXON Missense_E237D exm2220030 12 121139667 [G/C] NM_014730 MLEC EXON Silent exm2250636 12 121151093 [T/C] NM_001080533 UNC119B EXON Synonymous_P87P exm1043748 12 121151125 [A/G] NM_001080533 UNC119B EXON Missense_R98H exm1043750 12 121151184 [A/G] NM_001080533 UNC119B EXON Missense_V118I exm1043767 12 121157827 [A/G] NM_001080533 UNC119B EXON Missense_G250S exm1043773 12 121164829 [T/C] NM_000017 ACADS EXON Missense_A16V exm1043784 12 121164985 [T/C] NM_000017 ACADS EXON Missense_A68V exm1043790 12 121174897 [T/C] NM_000017 ACADS EXON Missense_R107C exm1043795 12 121174938 [T/C] NM_000017 ACADS EXON Synonymous_N120N exm-rs2014355 12 121175524 [T/C] NM_000017 ACADS Silent exm1043805 12 121175678 [T/C] NM_000017 ACADS EXON Missense_R171W exm1043808 12 121175696 [T/C] NM_000017 ACADS EXON Missense_W177R exm1043817 12 121176083 [A/G] NM_000017 ACADS EXON Missense_G209S exm1043819 12 121176113 [A/T] NM_000017 ACADS EXON Missense_T219S exm1043838 12 121176677 [T/C] NM_000017 ACADS EXON Missense_R330C exm1043839 12 121176678 [A/G] NM_000017 ACADS EXON Missense_R330H exm1043843 12 121176971 [T/C] NM_000017 ACADS EXON Missense_S353L exm1043849 12 121177159 [T/C] NM_000017 ACADS EXON Missense_R383C exm1043871 12 121206182 [T/C] NM_139015 SPPL3 EXON Missense_N240S exm1043884 12 121221518 [T/C] NM_139015 SPPL3 EXON Synonymous_P116P exm1043889 12 121222375 [A/G] NM_139015 SPPL3 EXON Missense_T71I exm-rs1039302 12 121236258 [T/C] NM_139015 SPPL3 Silent exm-rs2650000 12 121388962 [A/C] exm-rs7305618 12 121402932 [T/C] exm-rs7953249 12 121403724 [A/G] exm1043912 12 121416650 [A/C] NM_000545 HNF1A EXON Missense_I27L exm1043930 12 121416828 [T/A] NM_000545 HNF1A EXON Missense_L86H exm1043935 12 121416864 [T/C] NM_000545 HNF1A EXON Missense_A98V exm-rs1183910 12 121420807 [A/G] NM_000545 HNF1A Silent exm-rs7310409 12 121424861 [A/G] NM_000545 HNF1A Silent exm1043944 12 121426790 [A/G] NM_000545 HNF1A EXON Missense_A161T exm1043950 12 121426833 [A/G] NM_000545 HNF1A EXON Missense_Q175R exm1043955 12 121431382 [A/G] NM_000545 HNF1A EXON Missense_T196A exm1043967 12 121432124 [T/C] NM_000545 HNF1A EXON Missense_P291S exm1043973 12 121434074 [A/G] NM_000545 HNF1A EXON Missense_Y322C exm2220041 12 121434375 [T/A] NM_000545 HNF1A EXON Missense_V380D exm1043982 12 121434401 [T/G] NM_000545 HNF1A EXON Missense_L389V exm1044002 12 121435372 [T/C] NM_000545 HNF1A EXON Missense_H469Y exm1044005 12 121435427 [A/G] NM_000545 HNF1A EXON Missense_S487N exm-rs2259816 12 121435587 [T/G] NM_000545 HNF1A Silent exm1044016 12 121437110 [A/G] NM_000545 HNF1A EXON Missense_H514R exm2250637 12 121437114 [A/G] NM_000545 HNF1A EXON Synonymous_T515T exm-rs735396 12 121438844 [T/C] NM_000545 HNF1A Silent exm-rs1169310 12 121439433 [A/G] NM_000545 HNF1A EXON Silent exm1044051 12 121442237 [T/C] NM_022895 C12orf43 EXON Missense_D170N exm1044053 12 121442242 [A/G] NM_022895 C12orf43 EXON Missense_A168V exm1044055 12 121442260 [T/C] NM_022895 C12orf43 EXON Missense_R162Q exm1044060 12 121442833 [T/C] NM_022895 C12orf43 EXON Missense_R142H exm1044072 12 121448918 [T/A] NM_022895 C12orf43 EXON Missense_Q59H exm1044074 12 121454148 [T/C] NM_022895 C12orf43 EXON Missense_G44R exm1044077 12 121454187 [T/C] NM_022895 C12orf43 EXON Missense_M31V exm1044084 12 121454265 [T/C] NM_022895 C12orf43 EXON Missense_S5G exm1044094 12 121458486 [A/G] NM_003733,NM_198213,NM_001261825 OASL,OASL,OASL EXON Nonsense_Q475X,Silent,Nonsense_Q345X exm1044096 12 121458528 [A/G] NM_003733,NM_198213,NM_001261825 OASL,OASL,OASL EXON Nonsense_Q461X,Silent,Nonsense_Q331X exm1044100 12 121458657 [T/C] NM_003733,NM_198213,NM_001261825 OASL,OASL,OASL EXON Missense_I418V,Silent,Missense_I288V exm-rs7957197 12 121460686 [A/T] NM_003733,NM_198213,NM_001261825 OASL,OASL,OASL Silent,Silent,Silent exm1044111 12 121461798 [T/C] NM_003733,NM_198213,NM_001261825 OASL,OASL,OASL EXON Missense_V348M,Silent,Silent exm1756145 12 121461921 [T/C] NM_003733,NM_198213,NM_001261825 OASL,OASL,OASL EXON Missense_A307T,Missense_G226D,Silent exm1044130 12 121469259 [A/G] NM_003733,NM_198213,NM_001261825 OASL,OASL,OASL EXON Missense_H215Y,Missense_H215Y,Missense_H215Y exm1044132 12 121469271 [A/G] NM_003733,NM_198213,NM_001261825 OASL,OASL,OASL EXON Missense_R211C,Missense_R211C,Missense_R211C exm1044133 12 121469316 [A/T] NM_003733,NM_198213,NM_001261825 OASL,OASL,OASL EXON Nonsense_R196X,Nonsense_R196X,Nonsense_R196X exm1044137 12 121469358 [T/C] NM_003733,NM_198213,NM_001261825 OASL,OASL,OASL EXON Missense_G182S,Missense_G182S,Missense_G182S exm1044139 12 121469376 [T/C] NM_003733,NM_198213,NM_001261825 OASL,OASL,OASL EXON Missense_S176G,Missense_S176G,Missense_S176G exm1756155 12 121471285 [A/C] NM_003733,NM_198213,NM_001261825 OASL,OASL,OASL EXON Missense_V154L,Missense_V154L,Missense_V154L exm1044143 12 121471296 [A/G] NM_003733,NM_198213,NM_001261825 OASL,OASL,OASL EXON Missense_T150M,Missense_T150M,Missense_T150M exm1044150 12 121471363 [T/C] NM_003733,NM_198213,NM_001261825 OASL,OASL,OASL EXON Missense_M128V,Missense_M128V,Missense_M128V exm1756160 12 121476597 [A/G] NM_003733,NM_198213,NM_001261825 OASL,OASL,OASL EXON Missense_R60W,Missense_R60W,Missense_R60W exm1044157 12 121476657 [T/C] NM_003733,NM_198213,NM_001261825 OASL,OASL,OASL EXON Missense_V40M,Missense_V40M,Missense_V40M exm1044160 12 121476669 [T/C] NM_003733,NM_198213,NM_001261825 OASL,OASL,OASL EXON Missense_A36T,Missense_A36T,Missense_A36T exm1044161 12 121476693 [T/C] NM_003733,NM_198213,NM_001261825 OASL,OASL,OASL EXON Missense_E28K,Missense_E28K,Missense_E28K exm1044167 12 121570787 [A/G] NR_033953,NR_033948,NR_033950,NR_033952,NR_033951,NR_033949,NR_033955,NR_033954,NR_033956,NM_002562 P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_C5Y exm1044170 12 121570831 [T/C] NR_033953,NR_033948,NR_033950,NR_033952,NR_033951,NR_033949,NR_033955,NR_033954,NR_033956,NM_002562 P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_R20W exm1044171 12 121570841 [A/G] NR_033953,NR_033948,NR_033950,NR_033952,NR_033951,NR_033949,NR_033955,NR_033954,NR_033956,NM_002562 P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_S23N exm1044175 12 121570899 [T/G] NR_033953,NR_033948,NR_033950,NR_033952,NR_033951,NR_033949,NR_033955,NR_033954,NR_033956,NM_002562 P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm1044184 12 121592689 [T/C] NR_033953,NR_033948,NR_033950,NR_033952,NR_033951,NR_033949,NR_033955,NR_033954,NR_033956,NM_002562 P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_V76A exm1044189 12 121592743 [T/C] NR_033953,NR_033948,NR_033950,NR_033952,NR_033951,NR_033949,NR_033955,NR_033954,NR_033956,NM_002562 P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_T94I exm1044191 12 121593936 [T/C] NR_033953,NR_033948,NR_033950,NR_033952,NR_033951,NR_033949,NR_033955,NR_033954,NR_033956,NM_002562 P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_R117W exm1044192 12 121593937 [A/G] NR_033953,NR_033948,NR_033950,NR_033952,NR_033951,NR_033949,NR_033955,NR_033954,NR_033956,NM_002562 P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_R117Q exm1044195 12 121598714 [T/C] NR_033953,NR_033948,NR_033950,NR_033952,NR_033951,NR_033949,NR_033955,NR_033954,NR_033956,NM_002562 P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_R125C exm1756187 12 121598766 [T/C] NR_033953,NR_033948,NR_033950,NR_033952,NR_033951,NR_033949,NR_033955,NR_033954,NR_033956,NM_002562 P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_P142L exm1044200 12 121600238 [A/G] NR_033953,NR_033948,NR_033950,NR_033952,NR_033951,NR_033949,NR_033955,NR_033954,NR_033956,NM_002562 P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_G150R exm1044202 12 121600253 [T/C] NR_033953,NR_033948,NR_033950,NR_033952,NR_033951,NR_033949,NR_033955,NR_033954,NR_033956,NM_002562 P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_Y155H exm1044213 12 121603234 [A/G] NR_033953,NR_033948,NR_033950,NR_033952,NR_033951,NR_033949,NR_033955,NR_033954,NR_033956,NM_002562 P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_Y203C exm1044214 12 121603240 [T/C] NR_033953,NR_033948,NR_033950,NR_033952,NR_033951,NR_033949,NR_033955,NR_033954,NR_033956,NM_002562 P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_T205M exm1044225 12 121605337 [A/G] NR_033953,NR_033948,NR_033950,NR_033952,NR_033951,NR_033949,NR_033955,NR_033954,NR_033956,NM_002562 P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_R264H exm1044227 12 121605354 [T/C] NR_033953,NR_033948,NR_033950,NR_033952,NR_033951,NR_033949,NR_033955,NR_033954,NR_033956,NM_002562 P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_R270C exm1044228 12 121605355 [A/G] NR_033953,NR_033948,NR_033950,NR_033952,NR_033951,NR_033949,NR_033955,NR_033954,NR_033956,NM_002562 P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_R270H exm1044230 12 121605373 [A/G] NR_033953,NR_033948,NR_033950,NR_033952,NR_033951,NR_033949,NR_033955,NR_033954,NR_033956,NM_002562 P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_R276H exm1044235 12 121605408 [T/C] NR_033953,NR_033948,NR_033950,NR_033952,NR_033951,NR_033949,NR_033955,NR_033954,NR_033956,NM_002562 P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_Y288H exm2250639 12 121613200 [A/G] NR_033953,NR_033948,NR_033950,NR_033952,NR_033951,NR_033949,NR_033955,NR_033954,NR_033956,NM_002562 P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Synonymous_K297K exm1044240 12 121613229 [A/G] NR_033953,NR_033948,NR_033950,NR_033952,NR_033951,NR_033949,NR_033955,NR_033954,NR_033956,NM_002562 P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_R307Q exm1044243 12 121613268 [T/C] NR_033953,NR_033948,NR_033950,NR_033952,NR_033951,NR_033949,NR_033955,NR_033954,NR_033956,NM_002562 P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_L320P exm1044250 12 121614995 [A/G] NR_033953,NR_033948,NR_033950,NR_033952,NR_033951,NR_033949,NR_033955,NR_033954,NR_033956,NM_002562 P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_T340A exm1044252 12 121615103 [A/G] NR_033953,NR_033948,NR_033950,NR_033952,NR_033951,NR_033949,NR_033955,NR_033954,NR_033956,NM_002562 P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_A348T exm1044253 12 121615131 [G/C] NR_033953,NR_033948,NR_033950,NR_033952,NR_033951,NR_033949,NR_033955,NR_033954,NR_033956,NM_002562 P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_T357S exm1044257 12 121615248 [T/C] NR_033953,NR_033948,NR_033950,NR_033952,NR_033951,NR_033949,NR_033955,NR_033954,NR_033956,NM_002562 P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_P396L exm1044259 12 121618235 [A/G] NR_033953,NR_033948,NR_033950,NR_033952,NR_033951,NR_033949,NR_033955,NR_033954,NR_033956,NM_002562 P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_D423N exm1044260 12 121618257 [G/C] NR_033953,NR_033948,NR_033950,NR_033952,NR_033951,NR_033949,NR_033955,NR_033954,NR_033956,NM_002562 P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_P430R exm1044261 12 121622115 [T/C] NR_033953,NR_033948,NR_033950,NR_033952,NR_033951,NR_033949,NR_033955,NR_033954,NR_033956,NM_002562 P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_A433V exm1044264 12 121622196 [A/G] NR_033953,NR_033948,NR_033950,NR_033952,NR_033951,NR_033949,NR_033955,NR_033954,NR_033956,NM_002562 P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_Q460R exm1044272 12 121622304 [A/C] NR_033953,NR_033948,NR_033950,NR_033952,NR_033951,NR_033949,NR_033955,NR_033954,NR_033956,NM_002562 P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_E496A exm1756219 12 121622380 [C/G] NR_033953,NR_033948,NR_033950,NR_033952,NR_033951,NR_033949,NR_033955,NR_033954,NR_033956,NM_002562 P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_H521Q exm1044278 12 121622381 [A/G] NR_033953,NR_033948,NR_033950,NR_033952,NR_033951,NR_033949,NR_033955,NR_033954,NR_033956,NM_002562 P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_V522I exm1756220 12 121622408 [T/G] NR_033953,NR_033948,NR_033950,NR_033952,NR_033951,NR_033949,NR_033955,NR_033954,NR_033956,NM_002562 P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Nonsense_E531X exm1044285 12 121622520 [A/T] NR_033953,NR_033948,NR_033950,NR_033952,NR_033951,NR_033949,NR_033955,NR_033954,NR_033956,NM_002562 P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_N568I exm1044289 12 121622550 [A/G] NR_033953,NR_033948,NR_033950,NR_033952,NR_033951,NR_033949,NR_033955,NR_033954,NR_033956,NM_002562 P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_R578Q exm1756225 12 121622561 [T/C] NR_033953,NR_033948,NR_033950,NR_033952,NR_033951,NR_033949,NR_033955,NR_033954,NR_033956,NM_002562 P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_P582S exm1044290 12 121622562 [T/C] NR_033953,NR_033948,NR_033950,NR_033952,NR_033951,NR_033949,NR_033955,NR_033954,NR_033956,NM_002562 P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_P582L exm1756226 12 121622565 [A/C] NR_033953,NR_033948,NR_033950,NR_033952,NR_033951,NR_033949,NR_033955,NR_033954,NR_033956,NM_002562 P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_K583T exm1044295 12 121648031 [T/C] NM_001261397,NM_001256796,NR_046373,NM_002560,NM_001261398,NR_046372 P2RX4,P2RX4,P2RX4,P2RX4,P2RX4,P2RX4 EXON Missense_L22F,Missense_L22F,Silent,Missense_L22F,Missense_L22F,Silent exm2250640 12 121648054 [A/G] NM_001261397,NM_001256796,NR_046373,NM_002560,NM_001261398,NR_046372 P2RX4,P2RX4,P2RX4,P2RX4,P2RX4,P2RX4 EXON Synonymous_G29G,Synonymous_G29G,Silent,Synonymous_G29G,Synonymous_G29G,Silent exm1044330 12 121660756 [G/C] NM_001261397,NM_001256796,NR_046373,NM_002560,NM_001261398,NR_046372 P2RX4,P2RX4,P2RX4,P2RX4,P2RX4,P2RX4 EXON Nonsense_S145X,Nonsense_S161X,Silent,Nonsense_S145X,Nonsense_S145X,Silent exm1044332 12 121660770 [A/G] NM_001261397,NM_001256796,NR_046373,NM_002560,NM_001261398,NR_046372 P2RX4,P2RX4,P2RX4,P2RX4,P2RX4,P2RX4 EXON Silent,Missense_V166I,Silent,Missense_V150I,Missense_V150I,Silent exm1044337 12 121660804 [T/C] NM_001261397,NM_001256796,NR_046373,NM_002560,NM_001261398,NR_046372 P2RX4,P2RX4,P2RX4,P2RX4,P2RX4,P2RX4 EXON Silent,Missense_V177A,Silent,Missense_V161A,Missense_V161A,Silent exm1044342 12 121666614 [A/G] NM_001261397,NM_001256796,NR_046373,NM_002560,NM_001261398,NR_046372 P2RX4,P2RX4,P2RX4,P2RX4,P2RX4,P2RX4 EXON Missense_R204H,Missense_R247H,Silent,Missense_R231H,Missense_R231H,Silent exm1044343 12 121666641 [A/G] NM_001261397,NM_001256796,NR_046373,NM_002560,NM_001261398,NR_046372 P2RX4,P2RX4,P2RX4,P2RX4,P2RX4,P2RX4 EXON Missense_G213E,Missense_G256E,Silent,Missense_G240E,Missense_G240E,Silent exm1044344 12 121666646 [A/G] NM_001261397,NM_001256796,NR_046373,NM_002560,NM_001261398,NR_046372 P2RX4,P2RX4,P2RX4,P2RX4,P2RX4,P2RX4 EXON Missense_S215G,Missense_S258G,Silent,Missense_S242G,Missense_S242G,Silent exm1044349 12 121666880 [A/G] NM_001261397,NM_001256796,NR_046373,NM_002560,NM_001261398,NR_046372 P2RX4,P2RX4,P2RX4,P2RX4,P2RX4,P2RX4 EXON Missense_V261I,Missense_V304I,Silent,Missense_V288I,Missense_V288I,Silent exm1044350 12 121666892 [T/C] NM_001261397,NM_001256796,NR_046373,NM_002560,NM_001261398,NR_046372 P2RX4,P2RX4,P2RX4,P2RX4,P2RX4,P2RX4 EXON Missense_Y265H,Missense_Y308H,Silent,Missense_Y292H,Missense_Y292H,Silent exm1044351 12 121670225 [A/C] NM_001261397,NM_001256796,NR_046373,NM_002560,NM_001261398,NR_046372 P2RX4,P2RX4,P2RX4,P2RX4,P2RX4,P2RX4 EXON Missense_K271T,Missense_K314T,Silent,Missense_K298T,Missense_K298T,Silent exm1044355 12 121670276 [A/G] NM_001261397,NM_001256796,NR_046373,NM_002560,NM_001261398,NR_046372 P2RX4,P2RX4,P2RX4,P2RX4,P2RX4,P2RX4 EXON Missense_Y288C,Missense_Y331C,Silent,Missense_Y315C,Missense_Y315C,Silent exm2274631 12 121678567 [A/G] NM_006549,NM_172226,NM_153500,NM_153499,NM_001270486,NM_172216,NM_001270485 CAMKK2,CAMKK2,CAMKK2,CAMKK2,CAMKK2,CAMKK2,CAMKK2 EXON Missense_P568S,Silent,Silent,Silent,Silent,Missense_P525S,Missense_P568S exm1044384 12 121678569 [A/G] NM_006549,NM_172226,NM_153500,NM_153499,NM_001270486,NM_172216,NM_001270485 CAMKK2,CAMKK2,CAMKK2,CAMKK2,CAMKK2,CAMKK2,CAMKK2 EXON Missense_A567V,Silent,Silent,Silent,Silent,Missense_A524V,Missense_A567V exm1044399 12 121682943 [A/G] NM_006549,NM_172226,NM_153500,NM_153499,NM_001270486,NM_172216,NM_001270485,NM_172214,NM_172215 CAMKK2,CAMKK2,CAMKK2,CAMKK2,CAMKK2,CAMKK2,CAMKK2,CAMKK2,CAMKK2 EXON Missense_T518I,Missense_T518M,Missense_T475M,Missense_T518M,Missense_T518I,Missense_T475I,Missense_T518I,Missense_T518I,Missense_T475I exm1044404 12 121683021 [T/C] NM_006549,NM_172226,NM_153500,NM_153499,NM_001270486,NM_172216,NM_001270485,NM_172214,NM_172215 CAMKK2,CAMKK2,CAMKK2,CAMKK2,CAMKK2,CAMKK2,CAMKK2,CAMKK2,CAMKK2 EXON Missense_R492H,Missense_R492H,Missense_R449H,Missense_R492H,Missense_R492H,Missense_R449H,Missense_R492H,Missense_R492H,Missense_R449H exm1044412 12 121687661 [T/C] NM_006549,NM_172226,NM_153500,NM_153499,NM_001270486,NM_172216,NM_001270485,NM_172214,NM_172215 CAMKK2,CAMKK2,CAMKK2,CAMKK2,CAMKK2,CAMKK2,CAMKK2,CAMKK2,CAMKK2 EXON Missense_D418N,Missense_D418N,Missense_D418N,Missense_D418N,Missense_D418N,Missense_D418N,Missense_D418N,Missense_D418N,Missense_D418N exm1044421 12 121691096 [A/G] NM_006549,NM_172226,NM_153500,NM_153499,NM_001270486,NM_172216,NM_001270485,NM_172214,NM_172215 CAMKK2,CAMKK2,CAMKK2,CAMKK2,CAMKK2,CAMKK2,CAMKK2,CAMKK2,CAMKK2 EXON Missense_R363C,Missense_R363C,Missense_R363C,Missense_R363C,Missense_R363C,Missense_R363C,Missense_R363C,Missense_R363C,Missense_R363C exm1044441 12 121693606 [T/C] NM_006549,NM_172226,NM_153500,NM_153499,NM_001270486,NM_172216,NM_001270485,NM_172214,NM_172215 CAMKK2,CAMKK2,CAMKK2,CAMKK2,CAMKK2,CAMKK2,CAMKK2,CAMKK2,CAMKK2 EXON Synonymous_V266V,Synonymous_V266V,Synonymous_V266V,Synonymous_V266V,Synonymous_V266V,Synonymous_V266V,Synonymous_V266V,Synonymous_V266V,Synonymous_V266V exm1756295 12 121711875 [G/C] NM_006549,NM_172226,NM_153500,NM_153499,NM_001270486,NM_172216,NM_001270485,NM_172214,NM_172215 CAMKK2,CAMKK2,CAMKK2,CAMKK2,CAMKK2,CAMKK2,CAMKK2,CAMKK2,CAMKK2 EXON Missense_S152C,Missense_S152C,Missense_S152C,Missense_S152C,Missense_S152C,Missense_S152C,Missense_S152C,Missense_S152C,Missense_S152C exm1044468 12 121711962 [T/C] NM_006549,NM_172226,NM_153500,NM_153499,NM_001270486,NM_172216,NM_001270485,NM_172214,NM_172215 CAMKK2,CAMKK2,CAMKK2,CAMKK2,CAMKK2,CAMKK2,CAMKK2,CAMKK2,CAMKK2 EXON Missense_C123Y,Missense_C123Y,Missense_C123Y,Missense_C123Y,Missense_C123Y,Missense_C123Y,Missense_C123Y,Missense_C123Y,Missense_C123Y exm1044483 12 121712218 [A/G] NM_006549,NM_172226,NM_153500,NM_153499,NM_001270486,NM_172216,NM_001270485,NM_172214,NM_172215 CAMKK2,CAMKK2,CAMKK2,CAMKK2,CAMKK2,CAMKK2,CAMKK2,CAMKK2,CAMKK2 EXON Missense_R38W,Missense_R38W,Missense_R38W,Missense_R38W,Missense_R38W,Missense_R38W,Missense_R38W,Missense_R38W,Missense_R38W exm1044491 12 121712301 [T/C] NM_006549,NM_172226,NM_153500,NM_153499,NM_001270486,NM_172216,NM_001270485,NM_172214,NM_172215 CAMKK2,CAMKK2,CAMKK2,CAMKK2,CAMKK2,CAMKK2,CAMKK2,CAMKK2,CAMKK2 EXON Missense_S10N,Missense_S10N,Missense_S10N,Missense_S10N,Missense_S10N,Missense_S10N,Missense_S10N,Missense_S10N,Missense_S10N exm2267400 12 121715395 [A/G] NM_006549,NM_172226,NM_153500,NM_153499,NM_172216,NM_001270485,NM_172214,NM_172215 CAMKK2,CAMKK2,CAMKK2,CAMKK2,CAMKK2,CAMKK2,CAMKK2,CAMKK2 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm1044514 12 121747568 [T/C] NM_001137559,NM_016237 ANAPC5,ANAPC5 EXON Missense_M552I,Missense_M664I exm1044519 12 121756084 [A/G] NM_001137559,NM_016237 ANAPC5,ANAPC5 EXON Missense_A518V,Missense_A630V exm1044527 12 121756406 [A/G] NM_001137559,NM_016237 ANAPC5,ANAPC5 EXON Missense_A436V,Missense_A548V exm1756324 12 121757575 [T/C] NM_001137559,NM_016237 ANAPC5,ANAPC5 EXON Missense_N409S,Missense_N521S exm1044531 12 121758210 [A/G] NM_001137559,NM_016237 ANAPC5,ANAPC5 EXON Missense_P386L,Missense_P498L exm1756331 12 121766171 [T/C] NM_001137559,NM_016237 ANAPC5,ANAPC5 EXON Missense_I306V,Missense_I418V exm2271878 12 121768248 [T/C] NM_001137559,NM_016237 ANAPC5,ANAPC5 Silent,Silent exm2220051 12 121768411 [T/C] NM_001137559,NM_016237 ANAPC5,ANAPC5 EXON Missense_K267R,Missense_K366R exm1044578 12 121790045 [C/G] NM_001137559,NM_016237 ANAPC5,ANAPC5 EXON Silent,Nonsense_Y33X exm1044607 12 121855611 [A/G] NM_001256858,NM_025126,NM_194271 RNF34,RNF34,RNF34 EXON Silent,Missense_R177H,Missense_R178H exm1044612 12 121855704 [T/C] NM_001256858,NM_025126,NM_194271 RNF34,RNF34,RNF34 EXON Missense_V16A,Missense_V208A,Missense_V209A exm1044623 12 121858113 [A/T] NM_001256858,NM_025126,NM_194271 RNF34,RNF34,RNF34 EXON Missense_D42E,Missense_D234E,Missense_D235E exm1044624 12 121858116 [A/T] NM_001256858,NM_025126,NM_194271 RNF34,RNF34,RNF34 EXON Missense_E43D,Missense_E235D,Missense_E236D exm2277024 12 121858135 [T/C] NM_001256858,NM_025126,NM_194271 RNF34,RNF34,RNF34 EXON Missense_R50W,Missense_R242W,Missense_R243W exm1044639 12 121861260 [A/G] NM_001256858,NM_025126,NM_194271 RNF34,RNF34,RNF34 EXON Missense_D142N,Missense_D334N,Missense_D335N exm1044651 12 121867932 [A/G] NM_032590,NM_001005366 KDM2B,KDM2B EXON Silent,Missense_L1262S exm1044659 12 121877738 [T/C] NM_032590,NM_001005366 KDM2B,KDM2B EXON Missense_V1251I,Missense_V1182I exm2250641 12 121878707 [A/C] NM_032590,NM_001005366 KDM2B,KDM2B EXON Synonymous_L1174L,Synonymous_L1105L exm1044680 12 121878779 [C/G] NM_032590,NM_001005366 KDM2B,KDM2B EXON Synonymous_G1150G,Synonymous_G1081G exm1044681 12 121878917 [T/C] NM_032590,NM_001005366 KDM2B,KDM2B EXON Missense_N1135S,Missense_N1066S exm1044766 12 121947620 [A/G] NM_032590,NM_001005366 KDM2B,KDM2B EXON Missense_L466P,Missense_L435P exm1044771 12 121947761 [A/G] NM_032590,NM_001005366 KDM2B,KDM2B EXON Missense_P419L,Missense_P388L exm1044775 12 121951102 [T/C] NM_032590,NM_001005366 KDM2B,KDM2B EXON Missense_Y384C,Missense_Y353C exm1044778 12 121958816 [T/C] NM_032590,NM_001005366 KDM2B,KDM2B EXON Missense_R340Q,Missense_R309Q exm1044800 12 122012485 [T/C] NM_032590,NM_001005366 KDM2B,KDM2B EXON Missense_D122N,Missense_D91N exm1044813 12 122018761 [T/C] NM_032590 KDM2B EXON Missense_H19R exm1044842 12 122079275 [A/C] NM_032790 ORAI1 EXON Missense_P213H exm2250643 12 122079336 [A/G] NM_032790 ORAI1 EXON Synonymous_P233P exm1756477 12 122091018 [T/C] NM_173855 MORN3 EXON Missense_D204G exm1044875 12 122091109 [A/G] NM_173855 MORN3 EXON Missense_R174C exm2275393 12 122091149 [A/G] NM_173855 MORN3 EXON Synonymous_Y160Y exm1044878 12 122091154 [A/G] NM_173855 MORN3 EXON Missense_R159C exm1044881 12 122092181 [T/C] NM_173855 MORN3 EXON Synonymous_L154L exm2220060 12 122092186 [A/G] NM_173855 MORN3 EXON Missense_R153C exm1044901 12 122107246 [A/G] NM_173855 MORN3 EXON Synonymous_H48H exm1044904 12 122107272 [T/C] NM_173855 MORN3 EXON Missense_G40S exm1044913 12 122107335 [A/G] NM_173855 MORN3 EXON Missense_R19W exm1044927 12 122186239 [T/C] NM_001080825 TMEM120B EXON Missense_R66C exm1044928 12 122186240 [A/G] NM_001080825 TMEM120B EXON Missense_R66H exm1044934 12 122186317 [A/G] NM_001080825 TMEM120B EXON Missense_D92N exm1044935 12 122186324 [A/C] NM_001080825 TMEM120B EXON Missense_E94A exm1044942 12 122190035 [T/G] NM_001080825 TMEM120B EXON Missense_F123V exm1044965 12 122213001 [A/G] NM_001080825 TMEM120B EXON Missense_E291K exm1044967 12 122213011 [C/G] NM_001080825 TMEM120B EXON Missense_S294T exm1044980 12 122217430 [T/G] NM_001080825,NM_019034 TMEM120B,RHOF EXON Silent,Missense_K204Q exm1044981 12 122217439 [A/G] NM_001080825,NM_019034 TMEM120B,RHOF EXON Silent,Missense_R201W exm1044991 12 122217507 [T/C] NM_001080825,NM_019034 TMEM120B,RHOF EXON Silent,Missense_R178Q exm1044994 12 122217544 [A/G] NM_001080825,NM_019034 TMEM120B,RHOF EXON Silent,Nonsense_R166X exm1044997 12 122217559 [T/C] NM_001080825,NM_019034 TMEM120B,RHOF EXON Silent,Missense_A161T exm1045001 12 122218884 [T/C] NM_001080825,NM_019034 TMEM120B,RHOF EXON Silent,Missense_R122H exm1045002 12 122218885 [A/G] NM_001080825,NM_019034 TMEM120B,RHOF EXON Silent,Missense_R122C exm1045003 12 122218896 [A/G] NM_001080825,NM_019034 TMEM120B,RHOF EXON Silent,Missense_T118M exm1045008 12 122219097 [T/C] NM_001080825,NM_019034 TMEM120B,RHOF EXON Silent,Synonymous_G76G exm1045033 12 122247782 [T/C] NM_015048 SETD1B EXON Missense_R311W exm2250645 12 122247853 [T/C] NM_015048 SETD1B EXON Synonymous_P334P exm1045037 12 122247864 [T/C] NM_015048 SETD1B EXON Missense_A338V exm1045040 12 122247951 [T/C] NM_015048 SETD1B EXON Missense_P367L exm1045044 12 122248083 [T/C] NM_015048 SETD1B EXON Missense_P411L exm1045074 12 122255372 [A/G] NM_015048 SETD1B EXON Missense_R1025Q exm1045082 12 122257321 [A/G] NM_015048 SETD1B EXON Missense_S1101G exm1045088 12 122257478 [A/T] NM_015048 SETD1B EXON Missense_V1153E exm1045097 12 122260428 [A/G] NM_015048 SETD1B EXON Missense_M1272V exm1045105 12 122260549 [T/C] NM_015048 SETD1B EXON Missense_L1312P exm1045115 12 122261163 [A/G] NM_015048 SETD1B EXON Missense_V1517I exm1045121 12 122261431 [A/G] NM_015048 SETD1B EXON Missense_R1606H exm1045155 12 122277891 [A/C] NM_002150,NM_001171993 HPD,HPD EXON Missense_V340L,Missense_V301L exm1045156 12 122277904 [C/G] NM_002150,NM_001171993 HPD,HPD EXON Missense_I335M,Missense_I296M exm1045163 12 122281734 [T/C] NM_002150,NM_001171993 HPD,HPD EXON Missense_R279H,Missense_R240H exm1045179 12 122287612 [T/C] NM_002150,NM_001171993 HPD,HPD EXON Missense_D167N,Missense_D128N exm1045180 12 122287613 [T/C] NM_002150,NM_001171993 HPD,HPD EXON Missense_M166I,Missense_M127I exm1045186 12 122292609 [T/C] NM_002150,NM_001171993 HPD,HPD EXON Synonymous_T138T,Synonymous_T99T exm1045190 12 122292685 [T/C] NM_002150,NM_001171993 HPD,HPD EXON Missense_R113Q,Missense_R74Q exm1045192 12 122292692 [A/G] NM_002150,NM_001171993 HPD,HPD EXON Missense_R111W,Missense_R72W exm1045205 12 122295268 [T/C] NM_002150,NM_001171993 HPD,HPD EXON Missense_R55Q,Missense_R16Q exm1045208 12 122295335 [T/C] NM_002150,NM_001171993 HPD,HPD EXON Missense_T33A,Silent exm1045213 12 122296608 [A/C] NM_002150,NM_001171993 HPD,HPD EXON Missense_S5R,Silent exm2264484 12 122318985 [A/C] NM_001171993 HPD Silent exm1756593 12 122326793 [A/G] NM_002813,NR_048555,NM_001261400 PSMD9,PSMD9,PSMD9 EXON Missense_G11S,Silent,Missense_G11S exm1045224 12 122326812 [T/C] NM_002813,NR_048555,NM_001261400 PSMD9,PSMD9,PSMD9 EXON Missense_V17A,Silent,Missense_V17A exm1045229 12 122332652 [A/G] NM_002813,NR_048555,NM_001261400 PSMD9,PSMD9,PSMD9 EXON Missense_G49D,Silent,Silent exm2220066 12 122332664 [A/C] NM_002813,NR_048555,NM_001261400 PSMD9,PSMD9,PSMD9 EXON Missense_N53T,Silent,Silent exm1045235 12 122332697 [A/G] NM_002813,NR_048555,NM_001261400 PSMD9,PSMD9,PSMD9 EXON Missense_R64Q,Silent,Silent exm1756600 12 122337605 [T/C] NM_002813,NR_048555,NM_001261400 PSMD9,PSMD9,PSMD9 EXON Missense_R103C,Silent,Silent exm1045247 12 122337659 [A/T] NM_002813,NR_048555,NM_001261400 PSMD9,PSMD9,PSMD9 EXON Missense_S121C,Silent,Silent exm1045248 12 122337663 [A/G] NM_002813,NR_048555,NM_001261400 PSMD9,PSMD9,PSMD9 EXON Missense_R122H,Silent,Silent exm1756602 12 122337718 [C/G] NM_002813,NR_048555,NM_001261400 PSMD9,PSMD9,PSMD9 EXON Missense_N140K,Silent,Silent exm1045254 12 122340955 [A/G] NM_002813,NR_048555,NM_001261400 PSMD9,PSMD9,PSMD9 EXON Missense_N166S,Silent,Missense_N61S exm1045257 12 122353791 [A/G] NM_002813,NR_048555,NM_001261400 PSMD9,PSMD9,PSMD9 EXON Synonymous_R195R,Silent,Synonymous_R90R exm1045258 12 122353796 [A/G] NM_002813,NR_048555,NM_001261400 PSMD9,PSMD9,PSMD9 EXON Missense_E197G,Silent,Missense_E92G exm1045261 12 122353841 [T/G] NM_002813,NR_048555,NM_001261400 PSMD9,PSMD9,PSMD9 EXON Missense_G212V,Silent,Missense_G107V exm1045268 12 122359236 [T/C] NM_001178003,NM_144668 WDR66,WDR66 EXON Nonsense_R9X,Nonsense_R9X exm1045281 12 122359396 [A/G] NM_001178003,NM_144668 WDR66,WDR66 EXON Missense_G62E,Missense_G62E exm2250646 12 122359397 [A/G] NM_001178003,NM_144668 WDR66,WDR66 EXON Synonymous_G62G,Synonymous_G62G exm1045282 12 122359397 [A/G] NM_001178003,NM_144668 WDR66,WDR66 EXON Synonymous_G62G,Synonymous_G62G exm1045289 12 122359506 [A/G] NM_001178003,NM_144668 WDR66,WDR66 EXON Missense_E99K,Missense_E99K exm1045292 12 122359542 [T/G] NM_001178003,NM_144668 WDR66,WDR66 EXON Nonsense_E111X,Nonsense_E111X exm1045302 12 122361711 [T/C] NM_001178003,NM_144668 WDR66,WDR66 EXON Missense_R188W,Missense_R188W exm-rs7961894 12 122365583 [T/C] NM_001178003,NM_144668 WDR66,WDR66 Silent,Silent exm1045314 12 122372183 [A/G] NM_001178003,NM_144668 WDR66,WDR66 EXON Missense_V307I,Missense_V307I exm1045320 12 122380513 [A/G] NM_001178003,NM_144668 WDR66,WDR66 EXON Missense_A358T,Missense_A358T exm1045323 12 122380838 [T/C] NM_001178003,NM_144668 WDR66,WDR66 EXON Missense_T383M,Missense_T383M exm1045327 12 122386948 [A/G] NM_001178003,NM_144668 WDR66,WDR66 EXON Missense_R417Q,Missense_R417Q exm1045328 12 122386966 [T/G] NM_001178003,NM_144668 WDR66,WDR66 EXON Missense_W423L,Missense_W423L exm1045330 12 122389394 [T/G] NM_001178003,NM_144668 WDR66,WDR66 EXON Missense_E426D,Missense_E426D exm1045332 12 122392038 [T/C] NM_001178003,NM_144668 WDR66,WDR66 EXON Missense_L445F,Missense_L445F exm1045342 12 122395021 [A/T] NM_001178003,NM_144668 WDR66,WDR66 EXON Missense_Y526F,Missense_Y526F exm1045343 12 122395025 [A/T] NM_001178003,NM_144668 WDR66,WDR66 EXON Missense_D527E,Missense_D527E exm1045344 12 122395132 [A/G] NM_001178003,NM_144668 WDR66,WDR66 EXON Missense_Y563C,Missense_Y563C exm-rs830124 12 122395777 [A/G] NM_001178003,NM_144668 WDR66,WDR66 Silent,Silent exm1045347 12 122396206 [A/G] NM_001178003,NM_144668 WDR66,WDR66 EXON Missense_A587T,Missense_A587T exm1045351 12 122396276 [A/G] NM_001178003,NM_144668 WDR66,WDR66 EXON Missense_C610Y,Missense_C610Y exm1045355 12 122396362 [T/C] NM_001178003,NM_144668 WDR66,WDR66 EXON Nonsense_Q639X,Nonsense_Q639X exm1045357 12 122396395 [T/C] NM_001178003,NM_144668 WDR66,WDR66 EXON Missense_L650F,Missense_L650F exm1045368 12 122396990 [T/C] NM_001178003,NM_144668 WDR66,WDR66 EXON Missense_M708T,Missense_M708T exm1756639 12 122398520 [A/G] NM_001178003,NM_144668 WDR66,WDR66 EXON Missense_M721I,Missense_M721I exm1045379 12 122399947 [A/G] NM_001178003,NM_144668 WDR66,WDR66 EXON Missense_D791N,Missense_D791N exm1045389 12 122404946 [T/C] NM_001178003,NM_144668 WDR66,WDR66 EXON Missense_R860C,Missense_R860C exm1045390 12 122405912 [T/G] NM_001178003,NM_144668 WDR66,WDR66 EXON Missense_V870L,Missense_V870L exm1045399 12 122413196 [T/C] NM_144668 WDR66 EXON Missense_F940L exm2267472 12 122429484 [A/G] NM_144668 WDR66 Silent exm1045410 12 122437729 [C/G] NM_144668 WDR66 EXON Missense_K1038N exm1045413 12 122437782 [A/G] NM_144668 WDR66 EXON Missense_G1056D exm1045415 12 122437849 [A/C] NM_144668 WDR66 EXON Missense_K1078N exm1045418 12 122439428 [T/G] NM_144668 WDR66 EXON Missense_M1087I exm1045419 12 122439451 [T/C] NM_144668 WDR66 EXON Missense_F1095S exm2250647 12 122441592 [T/C] NM_144668 WDR66 EXON Synonymous_D1124D exm1045425 12 122441613 [A/C] NM_144668 WDR66 EXON Missense_F1131L exm1045438 12 122468687 [T/C] NM_020993,NM_001024808 BCL7A,BCL7A EXON Synonymous_D58D,Synonymous_D58D exm1045442 12 122481793 [T/C] NM_020993,NM_001024808 BCL7A,BCL7A EXON Synonymous_D91D,Synonymous_D91D exm2250649 12 122481895 [T/C] NM_020993,NM_001024808 BCL7A,BCL7A EXON Synonymous_S125S,Synonymous_S125S exm1045457 12 122492789 [G/C] NM_020993,NM_001024808 BCL7A,BCL7A EXON Missense_S173C,Missense_S173C exm1045459 12 122492816 [A/C] NM_020993,NM_001024808 BCL7A,BCL7A EXON Missense_T182K,Missense_T182K exm1045464 12 122492882 [T/C] NM_020993,NM_001024808 BCL7A,BCL7A EXON Missense_I204T,Silent exm-rs11835818 12 122494809 [T/C] NM_020993,NM_001024808 BCL7A,BCL7A Silent,Silent exm1045490 12 122615411 [A/G] NM_014938 MLXIP EXON Missense_M311V exm1045495 12 122616902 [T/A] NM_014938 MLXIP EXON Missense_V355E exm1045499 12 122617919 [A/C] NM_014938 MLXIP EXON Missense_L373I exm1045500 12 122617979 [G/C] NM_014938 MLXIP EXON Missense_H393D exm1045501 12 122617989 [A/G] NM_014938 MLXIP EXON Missense_E396G exm1045504 12 122618042 [A/G] NM_014938 MLXIP EXON Missense_D414N exm1045513 12 122618244 [T/C] NM_014938 MLXIP EXON Missense_P481L exm2250652 12 122618350 [A/G] NM_014938 MLXIP EXON Synonymous_P516P exm1045523 12 122618417 [T/G] NM_014938 MLXIP EXON Missense_V539L exm1045555 12 122622795 [A/G] NM_014938 MLXIP EXON Missense_M737V exm1045566 12 122625508 [T/G] NM_014938 MLXIP EXON Missense_I839S exm1045569 12 122625577 [A/G] NM_014938 MLXIP EXON Missense_R862Q exm1045575 12 122626268 [T/C] NM_014938 MLXIP EXON Missense_T890I exm1045579 12 122626331 [A/G] NM_014938 MLXIP EXON Missense_R911K exm1045591 12 122657198 [T/G] NM_152759,NM_001014336 LRRC43,IL31 EXON Silent,Missense_P86T exm1045603 12 122658471 [T/C] NM_152759,NM_001014336 LRRC43,IL31 EXON Silent,Missense_V29I exm1045609 12 122658533 [A/G] NM_152759,NM_001014336 LRRC43,IL31 EXON Silent,Missense_S8L exm1045613 12 122658746 [A/G] NM_152759,NM_001014336 LRRC43,IL31 EXON Silent,Silent exm1045622 12 122669096 [T/C] NM_152759,NM_001098519 LRRC43,LRRC43 EXON Silent,Nonsense_R61X exm1045623 12 122669104 [A/G] NM_152759,NM_001098519 LRRC43,LRRC43 EXON Silent,Nonsense_W63X exm1045627 12 122669180 [T/C] NM_152759,NM_001098519 LRRC43,LRRC43 EXON Silent,Missense_R89C exm1045629 12 122669186 [T/C] NM_152759,NM_001098519 LRRC43,LRRC43 EXON Silent,Missense_R91C exm1045633 12 122669256 [A/G] NM_152759,NM_001098519 LRRC43,LRRC43 EXON Silent,Missense_R114Q exm1045636 12 122669310 [G/C] NM_152759,NM_001098519 LRRC43,LRRC43 EXON Silent,Missense_R132P exm1045639 12 122670741 [T/C] NM_152759,NM_001098519 LRRC43,LRRC43 EXON Silent,Missense_T139I exm1045640 12 122670787 [T/G] NM_152759,NM_001098519 LRRC43,LRRC43 EXON Silent,Missense_L154F exm1045644 12 122670825 [T/C] NM_152759,NM_001098519 LRRC43,LRRC43 EXON Silent,Missense_T167I exm2250653 12 122672316 [A/G] NM_152759,NM_001098519 LRRC43,LRRC43 EXON Synonymous_L12L,Synonymous_L197L exm1045653 12 122672377 [A/G] NM_152759,NM_001098519 LRRC43,LRRC43 EXON Missense_A33T,Missense_A218T exm1045655 12 122674687 [A/G] NM_152759,NM_001098519 LRRC43,LRRC43 EXON Missense_V40I,Missense_V225I exm1045658 12 122674739 [T/C] NM_152759,NM_001098519 LRRC43,LRRC43 EXON Missense_T57I,Missense_T242I exm1045664 12 122674780 [A/C] NM_152759,NM_001098519 LRRC43,LRRC43 EXON Missense_Q71K,Missense_Q256K exm1045666 12 122674807 [T/C] NM_152759,NM_001098519 LRRC43,LRRC43 EXON Missense_Y80H,Missense_Y265H exm1045669 12 122674825 [A/G] NM_152759,NM_001098519 LRRC43,LRRC43 EXON Missense_I86V,Missense_I271V exm1045673 12 122674877 [A/G] NM_152759,NM_001098519 LRRC43,LRRC43 EXON Missense_N103S,Missense_N288S exm1045681 12 122676056 [A/G] NM_152759,NM_001098519 LRRC43,LRRC43 EXON Missense_Y159C,Missense_Y344C exm1045682 12 122676079 [A/G] NM_152759,NM_001098519 LRRC43,LRRC43 EXON Missense_G167S,Missense_G352S exm1045686 12 122676107 [T/G] NM_152759,NM_001098519 LRRC43,LRRC43 EXON Missense_L176R,Missense_L361R exm1045689 12 122677423 [C/G] NM_152759,NM_001098519 LRRC43,LRRC43 EXON Missense_E222D,Missense_E407D exm1045691 12 122677464 [T/C] NM_152759,NM_001098519 LRRC43,LRRC43 EXON Missense_S236L,Missense_S421L exm1045703 12 122684821 [A/G] NM_152759,NM_001098519 LRRC43,LRRC43 EXON Missense_V294I,Missense_V479I exm1045708 12 122685095 [T/C] NM_152759,NM_001098519 LRRC43,LRRC43 EXON Missense_V318A,Missense_V503A exm1045714 12 122685139 [A/G] NM_152759,NM_001098519 LRRC43,LRRC43 EXON Missense_K333E,Missense_K518E exm1045715 12 122685163 [A/G] NM_152759,NM_001098519 LRRC43,LRRC43 EXON Missense_K341E,Missense_K526E exm1045716 12 122685164 [A/G] NM_152759,NM_001098519 LRRC43,LRRC43 EXON Missense_K341R,Missense_K526R exm1045720 12 122685190 [A/G] NM_152759,NM_001098519 LRRC43,LRRC43 EXON Missense_E350K,Missense_E535K exm1045752 12 122687960 [A/G] NM_152759,NM_001098519 LRRC43,LRRC43 EXON Missense_E463K,Missense_E648K exm1045757 12 122689181 [G/C] NM_030765 B3GNT4 EXON Missense_P6A exm1045771 12 122691013 [A/G] NM_030765 B3GNT4 EXON Missense_R72H exm1045776 12 122691045 [T/A] NM_030765 B3GNT4 EXON Missense_S83T exm1045777 12 122691058 [T/C] NM_030765 B3GNT4 EXON Missense_L87P exm1045793 12 122691264 [T/G] NM_030765 B3GNT4 EXON Missense_V156L exm1756813 12 122691468 [A/C] NM_030765 B3GNT4 EXON Missense_H224N exm1045813 12 122691541 [A/G] NM_030765 B3GNT4 EXON Missense_R248H exm1045815 12 122691600 [A/G] NM_030765 B3GNT4 EXON Missense_R268G exm1045818 12 122691610 [A/G] NM_030765 B3GNT4 EXON Missense_H271R exm1045819 12 122691664 [A/G] NM_030765 B3GNT4 EXON Missense_R289Q exm1045820 12 122691667 [A/G] NM_030765 B3GNT4 EXON Missense_R290H exm1045824 12 122691739 [A/G] NM_030765 B3GNT4 EXON Missense_R314Q exm1045835 12 122691847 [A/G] NM_030765 B3GNT4 EXON Missense_R350H exm1045849 12 122692978 [T/C] NR_024601,NR_024600,NM_138929,NM_019887 DIABLO,DIABLO,DIABLO,DIABLO EXON Silent,Silent,Missense_G180R,Missense_G224R exm1045852 12 122693043 [T/C] NR_024601,NR_024600,NM_138929,NM_019887 DIABLO,DIABLO,DIABLO,DIABLO EXON Silent,Silent,Missense_R158Q,Missense_R202Q exm1045855 12 122693095 [T/C] NR_024601,NR_024600,NM_138929,NM_019887 DIABLO,DIABLO,DIABLO,DIABLO EXON Silent,Silent,Missense_N141D,Missense_N185D exm1045857 12 122693107 [T/G] NR_024601,NR_024600,NM_138929,NM_019887 DIABLO,DIABLO,DIABLO,DIABLO EXON Silent,Silent,Missense_I137L,Missense_I181L exm1045865 12 122701389 [A/G] NR_024601,NR_024600,NM_138929,NM_019887 DIABLO,DIABLO,DIABLO,DIABLO EXON Silent,Silent,Nonsense_R71X,Nonsense_R115X exm1045876 12 122709063 [A/G] NR_024601,NR_024600,NM_138929,NM_019887 DIABLO,DIABLO,DIABLO,DIABLO EXON Silent,Silent,Missense_A60V,Missense_A60V exm1045890 12 122710543 [T/A] NR_024601,NR_024600,NM_138929,NM_019887 DIABLO,DIABLO,DIABLO,DIABLO EXON Silent,Silent,Missense_W7R,Missense_W7R exm1045891 12 122710554 [C/G] NR_024601,NR_024600,NM_138929,NM_019887 DIABLO,DIABLO,DIABLO,DIABLO EXON Silent,Silent,Missense_A3G,Missense_A3G exm1045912 12 122717508 [A/G] NM_022916 VPS33A EXON Missense_T483M exm1045917 12 122720440 [T/G] NM_022916 VPS33A EXON Missense_H445N exm1045918 12 122720455 [A/G] NM_022916 VPS33A EXON Missense_H440Y exm1045928 12 122726956 [T/C] NM_022916 VPS33A EXON Missense_I357V exm1045940 12 122734427 [T/G] NM_022916 VPS33A EXON Missense_I256L exm1045954 12 122735642 [T/C] NM_022916 VPS33A EXON Missense_C163Y exm1045962 12 122745945 [A/G] NM_022916 VPS33A EXON Missense_R116C exm1045963 12 122745951 [G/C] NM_022916 VPS33A EXON Missense_V114L exm1045969 12 122748141 [T/G] NM_022916 VPS33A EXON Missense_I92L exm1046006 12 122763670 [A/C] NM_002956,NM_198240,NM_001247997 CLIP1,CLIP1,CLIP1 EXON Missense_A1213S,Missense_A1178S,Missense_A1224S exm-rs11057405 12 122781897 [A/G] NM_002956,NM_198240,NM_001247997 CLIP1,CLIP1,CLIP1 Silent,Silent,Silent exm1046014 12 122812503 [C/G] NM_002956,NM_198240,NM_001247997 CLIP1,CLIP1,CLIP1 EXON Missense_D1069E,Missense_D1034E,Missense_D1080E exm1046024 12 122812693 [T/G] NM_002956,NM_198240,NM_001247997 CLIP1,CLIP1,CLIP1 EXON Missense_T1006K,Missense_T971K,Missense_T1017K exm1046031 12 122812969 [A/C] NM_002956,NM_198240,NM_001247997 CLIP1,CLIP1,CLIP1 EXON Missense_V947L,Missense_V912L,Missense_V958L exm1046034 12 122817561 [A/C] NM_002956,NM_198240,NM_001247997 CLIP1,CLIP1,CLIP1 EXON Missense_M936R,Missense_M901R,Missense_M947R exm1046037 12 122817580 [A/G] NM_002956,NM_198240,NM_001247997 CLIP1,CLIP1,CLIP1 EXON Missense_S930P,Missense_S895P,Missense_S941P exm1046053 12 122825299 [A/C] NM_002956,NM_198240,NM_001247997 CLIP1,CLIP1,CLIP1 Silent,Silent,Silent exm1046055 12 122825388 [A/G] NM_002956,NM_198240,NM_001247997 CLIP1,CLIP1,CLIP1 EXON Missense_S777L,Missense_S742L,Missense_S788L exm1046056 12 122825398 [T/C] NM_002956,NM_198240,NM_001247997 CLIP1,CLIP1,CLIP1 EXON Missense_E774K,Missense_E739K,Missense_E785K exm2220079 12 122825413 [A/G] NM_002956,NM_198240,NM_001247997 CLIP1,CLIP1,CLIP1 EXON Missense_R769W,Missense_R734W,Missense_R780W exm1046059 12 122825466 [A/G] NM_002956,NM_198240,NM_001247997 CLIP1,CLIP1,CLIP1 EXON Missense_F751S,Missense_F716S,Missense_F762S exm1046065 12 122825674 [T/C] NM_002956,NM_198240,NM_001247997 CLIP1,CLIP1,CLIP1 EXON Missense_E682K,Missense_E647K,Missense_E693K exm1046075 12 122825989 [A/T] NM_002956,NM_198240,NM_001247997 CLIP1,CLIP1,CLIP1 EXON Missense_I577L,Missense_I542L,Missense_I588L exm1046079 12 122826054 [T/C] NM_002956,NM_198240,NM_001247997 CLIP1,CLIP1,CLIP1 EXON Missense_H555R,Missense_H520R,Missense_H566R exm1046082 12 122826144 [T/C] NM_002956,NM_198240,NM_001247997 CLIP1,CLIP1,CLIP1 EXON Missense_N525S,Missense_N490S,Missense_N536S exm1046086 12 122826235 [T/C] NM_002956,NM_198240,NM_001247997 CLIP1,CLIP1,CLIP1 EXON Missense_V495I,Missense_V460I,Missense_V506I exm1046107 12 122839835 [T/C] NM_002956,NM_198240,NM_001247997 CLIP1,CLIP1,CLIP1 EXON Missense_A344T,Missense_A344T,Missense_A344T exm1046128 12 122861989 [G/C] NM_002956,NM_198240,NM_001247997 CLIP1,CLIP1,CLIP1 EXON Missense_A202P,Missense_A202P,Missense_A202P exm1756953 12 122862048 [A/G] NM_002956,NM_198240,NM_001247997 CLIP1,CLIP1,CLIP1 EXON Missense_T182M,Missense_T182M,Missense_T182M exm1046136 12 122862168 [A/G] NM_002956,NM_198240,NM_001247997 CLIP1,CLIP1,CLIP1 EXON Missense_A142V,Missense_A142V,Missense_A142V exm1046148 12 122864920 [A/G] NM_002956,NM_198240,NM_001247997 CLIP1,CLIP1,CLIP1 EXON Missense_T27M,Missense_T27M,Missense_T27M exm1046152 12 122864993 [T/C] NM_002956,NM_198240,NM_001247997 CLIP1,CLIP1,CLIP1 EXON Missense_M3V,Missense_M3V,Missense_M3V exm2250654 12 122942185 [A/G] exm1046155 12 122958095 [T/C] NM_017612 ZCCHC8 EXON Synonymous_L691L exm1046158 12 122958181 [T/C] NM_017612 ZCCHC8 EXON Missense_M663V exm1046162 12 122958258 [T/C] NM_017612 ZCCHC8 EXON Missense_N637S exm1046169 12 122958516 [T/C] NM_017612 ZCCHC8 EXON Missense_G551D exm1046170 12 122958526 [A/G] NM_017612 ZCCHC8 EXON Missense_P548S exm1046172 12 122958541 [T/C] NM_017612 ZCCHC8 EXON Missense_V543I exm2220082 12 122958618 [A/G] NM_017612 ZCCHC8 EXON Missense_L517P exm1046176 12 122958639 [A/G] NM_017612 ZCCHC8 EXON Missense_V510A exm1046177 12 122958659 [A/G] NM_017612 ZCCHC8 EXON Synonymous_T503T exm1046179 12 122958687 [A/G] NM_017612 ZCCHC8 EXON Missense_P494L exm1756975 12 122962754 [A/G] NM_017612 ZCCHC8 EXON Missense_A409V exm2220083 12 122973980 [T/C] NM_017612 ZCCHC8 EXON Missense_K152E exm1046212 12 122977328 [A/C] NM_017612 ZCCHC8 EXON Missense_L84W exm1046224 12 122990097 [T/C] NR_036435,NM_023012,NR_036434,NR_036436 RSRC2,RSRC2,RSRC2,RSRC2 EXON Silent,Missense_M428V,Silent,Silent exm1046227 12 122990229 [A/C] NR_036435,NM_023012,NR_036434,NR_036436 RSRC2,RSRC2,RSRC2,RSRC2 EXON Silent,Missense_S384A,Silent,Silent exm1046286 12 123014687 [A/G] NM_014708 KNTC1 EXON Missense_H26R exm1046287 12 123014705 [A/G] NM_014708 KNTC1 EXON Missense_Q32R exm1046289 12 123014737 [A/G] NM_014708 KNTC1 EXON Missense_K43E exm1046291 12 123019262 [A/G] NM_014708 KNTC1 EXON Missense_I61V exm1046304 12 123026621 [T/C] NM_014708 KNTC1 EXON Missense_T157I exm1046313 12 123028739 [A/G] NM_014708 KNTC1 EXON Missense_T198A exm1046320 12 123030788 [T/G] NM_014708 KNTC1 EXON Missense_K245N exm1046326 12 123032478 [T/C] NM_014708 KNTC1 EXON Missense_L317F exm1046327 12 123032505 [C/G] NM_014708 KNTC1 EXON Missense_A326P exm1046332 12 123034383 [A/C] NM_014708 KNTC1 EXON Missense_S353Y exm1046334 12 123034400 [A/G] NM_014708 KNTC1 EXON Missense_G359R exm1046342 12 123042004 [A/C] NM_014708 KNTC1 EXON Missense_T449N exm1046361 12 123054327 [A/G] NM_014708 KNTC1 EXON Missense_N606D exm1046375 12 123057792 [A/G] NM_014708 KNTC1 EXON Missense_H748R exm1046378 12 123058923 [T/C] NM_014708 KNTC1 EXON Missense_T793M exm1046384 12 123061452 [A/G] NM_014708 KNTC1 EXON Missense_R866K exm1046385 12 123061479 [A/C] NM_014708 KNTC1 EXON Missense_S875Y exm1046400 12 123067303 [T/G] NM_014708 KNTC1 EXON Missense_V1012L exm1046411 12 123067510 [A/G] NM_014708 KNTC1 EXON Missense_K1081E exm1046413 12 123067516 [A/G] NM_014708 KNTC1 EXON Missense_A1083T exm1757104 12 123067531 [A/G] NM_014708 KNTC1 EXON Missense_S1088G exm1046426 12 123070310 [T/C] NM_014708 KNTC1 EXON Missense_V1221A exm1046428 12 123071257 [G/C] NM_014708 KNTC1 EXON Missense_R1228T exm1046433 12 123073299 [T/G] NM_014708 KNTC1 EXON Missense_V1312G exm1046434 12 123073331 [A/G] NM_014708 KNTC1 EXON Missense_I1323V exm1046449 12 123082285 [C/G] NM_014708 KNTC1 EXON Missense_Q1455E exm1046456 12 123082348 [A/G] NM_014708 KNTC1 EXON Missense_G1476S exm1046458 12 123082387 [T/C] NM_014708 KNTC1 EXON Missense_R1489W exm1046461 12 123082439 [T/C] NM_014708 KNTC1 EXON Missense_T1506M exm2220087 12 123082465 [G/C] NM_014708 KNTC1 EXON Missense_L1515V exm1046465 12 123086134 [T/C] NM_014708 KNTC1 EXON Nonsense_R1539X exm1046477 12 123087655 [A/C] NM_014708 KNTC1 EXON Missense_Q1656K exm1046482 12 123087751 [A/G] NM_014708 KNTC1 EXON Missense_V1688I exm1046488 12 123089167 [A/C] NM_014708 KNTC1 EXON Missense_Q1720K exm1757142 12 123089499 [C/G] NM_014708 KNTC1 EXON Missense_V1751L exm1046500 12 123089955 [T/C] NM_014708 KNTC1 EXON Missense_P1830L exm1046501 12 123093974 [A/G] NM_014708 KNTC1 EXON Missense_R1847Q exm1046507 12 123098236 [T/C] NM_014708 KNTC1 EXON Synonymous_Y1935Y exm2250656 12 123098236 [T/C] NM_014708 KNTC1 EXON Synonymous_Y1935Y exm1046518 12 123100056 [A/G] NM_014708 KNTC1 EXON Missense_I2005V exm1046526 12 123102921 [T/G] NM_014708 KNTC1 EXON Missense_V2021G exm1046531 12 123103085 [A/G] NM_014708 KNTC1 EXON Missense_V2048I exm1046540 12 123106455 [T/G] NM_014708 KNTC1 EXON Missense_V2103F exm1046545 12 123109167 [A/G] NM_014708 KNTC1 EXON Missense_I2180V exm1046548 12 123109212 [A/G] NM_014708 KNTC1 EXON Missense_T2195A exm1757156 12 123110752 [A/G] NM_014708 KNTC1 EXON Missense_M2203V exm2271804 12 123145864 [T/C] exm1046577 12 123187313 [C/G] NM_177551 HCAR2 EXON Missense_G173A exm1046578 12 123187314 [T/C] NM_177551 HCAR2 EXON Missense_G173S exm1046581 12 123187328 [A/G] NM_177551 HCAR2 EXON Missense_P168L exm1046583 12 123187332 [A/T] NM_177551 HCAR2 EXON Missense_M167L exm1046584 12 123187353 [T/C] NM_177551 HCAR2 EXON Missense_V160I exm1046587 12 123187367 [A/G] NM_177551 HCAR2 EXON Missense_T155I exm1046623 12 123200227 [T/C] NM_006018 HCAR3 EXON Nonsense_W353X exm1046644 12 123200752 [A/C] NM_006018 HCAR3 EXON Missense_I178S exm1046646 12 123200768 [T/G] NM_006018 HCAR3 EXON Missense_T173P exm1046662 12 123200977 [A/C] NM_006018 HCAR3 EXON Missense_V103G exm1046665 12 123200983 [T/C] NM_006018 HCAR3 EXON Missense_R101Q exm1046697 12 123214130 [C/G] NM_032554 HCAR1 EXON Missense_D253H exm1046699 12 123214166 [A/G] NM_032554 HCAR1 EXON Missense_L241F exm1046712 12 123214372 [A/G] NM_032554 HCAR1 EXON Missense_S172L exm1046727 12 123214558 [A/G] NM_032554 HCAR1 EXON Missense_A110V exm1046734 12 123214607 [T/G] NM_032554 HCAR1 EXON Missense_T94P exm1046735 12 123214655 [T/G] NM_032554 HCAR1 EXON Missense_R78S exm1046736 12 123214666 [T/C] NM_032554 HCAR1 EXON Missense_Y74C exm1046738 12 123214712 [T/C] NM_032554 HCAR1 EXON Missense_V59M exm1046748 12 123238313 [A/C] NM_003677 DENR EXON Missense_K22T exm1046766 12 123262080 [T/C] NM_201435,NR_027918 CCDC62,CCDC62 EXON Missense_R27W,Silent exm1046771 12 123262185 [T/C] NM_201435,NR_027918 CCDC62,CCDC62 EXON Missense_R62W,Silent exm2250657 12 123265847 [A/G] NM_201435,NR_027918 CCDC62,CCDC62 EXON Synonymous_T122T,Silent exm1046782 12 123265847 [A/G] NM_201435,NR_027918 CCDC62,CCDC62 EXON Synonymous_T122T,Silent exm1046785 12 123270291 [T/C] NM_201435,NR_027918 CCDC62,CCDC62 EXON Missense_T141M,Silent exm1757227 12 123270333 [A/G] NM_201435,NR_027918 CCDC62,CCDC62 EXON Missense_R155Q,Silent exm1046787 12 123273333 [A/G] NM_201435,NR_027918 CCDC62,CCDC62 EXON Missense_H176R,Silent exm1046791 12 123273420 [A/C] NM_201435,NR_027918 CCDC62,CCDC62 EXON Missense_K205T,Silent exm1046796 12 123276606 [A/G] NM_201435,NR_027918 CCDC62,CCDC62 EXON Missense_R237Q,Silent exm1046800 12 123281878 [A/G] NM_201435,NR_027918 CCDC62,CCDC62 EXON Missense_E266G,Silent exm1046807 12 123282708 [A/T] NM_201435,NR_027918 CCDC62,CCDC62 EXON Missense_Y313F,Silent exm1046811 12 123285775 [T/C] NM_201435,NR_027918 CCDC62,CCDC62 EXON Missense_M361T,Silent exm1046819 12 123285957 [A/G] NM_201435,NR_027918 CCDC62,CCDC62 EXON Missense_E422K,Silent exm1046833 12 123286269 [G/C] NM_201435,NR_027918 CCDC62,CCDC62 EXON Missense_P526A,Silent exm1046836 12 123286287 [A/G] NM_201435,NR_027918 CCDC62,CCDC62 EXON Missense_V532M,Silent exm1046851 12 123297902 [T/C] NM_201435,NR_027918 CCDC62,CCDC62 EXON Missense_T646M,Silent exm1757263 12 123333380 [A/G] NM_003959 HIP1R EXON Missense_R113Q exm2220101 12 123334438 [A/G] NM_003959 HIP1R EXON Missense_R125H exm1046873 12 123335398 [T/C] NM_003959 HIP1R EXON Missense_A152V exm1046883 12 123338616 [A/G] NM_003959 HIP1R EXON Missense_A202T exm1046894 12 123339487 [T/C] NM_003959 HIP1R EXON Missense_R252W exm1046896 12 123339496 [A/G] NM_003959 HIP1R EXON Missense_E255K exm1046907 12 123339915 [T/C] NM_003959 HIP1R EXON Missense_I319T exm1046913 12 123340138 [A/G] NM_003959 HIP1R EXON Missense_N345S exm1046919 12 123340440 [T/G] NM_003959 HIP1R EXON Missense_I373S exm1046925 12 123340539 [A/G] NM_003959 HIP1R EXON Missense_I381V exm1046926 12 123340542 [A/G] NM_003959 HIP1R EXON Missense_A382T exm1046943 12 123341045 [A/G] NM_003959 HIP1R EXON Missense_E490K exm1046946 12 123341187 [A/G] NM_003959 HIP1R EXON Missense_D512N exm1046947 12 123341199 [A/C] NM_003959 HIP1R EXON Missense_K516Q exm1046952 12 123341245 [T/C] NM_003959 HIP1R EXON Missense_A531V exm1046955 12 123341575 [T/C] NM_003959 HIP1R EXON Missense_S543L exm1046961 12 123341637 [T/C] NM_003959 HIP1R EXON Missense_R564W exm1046968 12 123341715 [T/C] NM_003959 HIP1R EXON Missense_R590C exm1046974 12 123342688 [A/G] NM_003959 HIP1R EXON Missense_E619K exm1046975 12 123342706 [T/C] NM_003959 HIP1R EXON Missense_R625W exm1046993 12 123343688 [T/C] NM_003959 HIP1R EXON Missense_H747Y exm1047003 12 123344021 [A/G] NM_003959 HIP1R EXON Missense_V782M exm1047004 12 123344040 [T/C] NM_003959 HIP1R EXON Missense_A788V exm1047037 12 123345296 [A/G] NM_003959 HIP1R EXON Missense_A911T exm2274633 12 123345496 [T/C] NM_003959 HIP1R EXON Missense_R934C exm1047044 12 123345509 [T/G] NM_003959 HIP1R EXON Missense_C938F exm1047045 12 123345524 [A/G] NM_003959 HIP1R EXON Missense_N943S exm1047064 12 123345900 [T/C] NM_003959 HIP1R EXON Missense_R1000W exm1047070 12 123345994 [A/G] NM_003959 HIP1R EXON Missense_R1031Q exm1047073 12 123346044 [T/C] NM_003959 HIP1R EXON Missense_P1048S exm1047086 12 123351687 [T/G] NM_024667 VPS37B EXON Missense_H278Q exm1047093 12 123351793 [A/G] NM_024667 VPS37B EXON Missense_L243P exm1047097 12 123351874 [A/G] NM_024667 VPS37B EXON Missense_A216V exm1047120 12 123355475 [A/G] NM_024667 VPS37B EXON Missense_V82A exm1047125 12 123355608 [T/C] NM_024667 VPS37B EXON Missense_T38A exm1047128 12 123380524 [A/G] NM_024667 VPS37B EXON Missense_T29M exm1047152 12 123414616 [T/C] NM_001243014,NM_203444,NM_001243013,NM_019625,NM_019624 ABCB9,ABCB9,ABCB9,ABCB9,ABCB9 EXON Silent,Silent,Missense_K652E,Missense_K715E,Missense_K672E exm1757372 12 123424824 [G/C] NM_001243014,NM_203444,NM_001243013,NM_019625,NM_019624 ABCB9,ABCB9,ABCB9,ABCB9,ABCB9 EXON Missense_S526C,Missense_S526C,Missense_S463C,Missense_S526C,Missense_S483C exm1047188 12 123425370 [A/T] NM_001243014,NM_203444,NM_001243013,NM_019625,NM_019624 ABCB9,ABCB9,ABCB9,ABCB9,ABCB9 EXON Missense_H518L,Missense_H518L,Silent,Missense_H518L,Missense_H475L exm1047190 12 123425431 [T/C] NM_001243014,NM_203444,NM_001243013,NM_019625,NM_019624 ABCB9,ABCB9,ABCB9,ABCB9,ABCB9 EXON Missense_D498N,Missense_D498N,Silent,Missense_D498N,Missense_D455N exm1047200 12 123428991 [T/C] NM_001243014,NM_203444,NM_001243013,NM_019625,NM_019624 ABCB9,ABCB9,ABCB9,ABCB9,ABCB9 EXON Missense_G443S,Missense_G443S,Missense_G443S,Missense_G443S,Silent exm1047205 12 123430586 [T/C] NM_001243014,NM_203444,NM_001243013,NM_019625,NM_019624 ABCB9,ABCB9,ABCB9,ABCB9,ABCB9 EXON Missense_V413I,Missense_V413I,Missense_V413I,Missense_V413I,Missense_V413I exm1047209 12 123430646 [A/G] NM_001243014,NM_203444,NM_001243013,NM_019625,NM_019624 ABCB9,ABCB9,ABCB9,ABCB9,ABCB9 EXON Missense_R393W,Missense_R393W,Missense_R393W,Missense_R393W,Missense_R393W exm1047223 12 123433351 [A/C] NM_001243014,NM_203444,NM_001243013,NM_019625,NM_019624 ABCB9,ABCB9,ABCB9,ABCB9,ABCB9 EXON Synonymous_S291S,Synonymous_S291S,Synonymous_S291S,Synonymous_S291S,Synonymous_S291S exm1047226 12 123434382 [T/C] NM_001243014,NM_203444,NM_001243013,NM_019625,NM_019624 ABCB9,ABCB9,ABCB9,ABCB9,ABCB9 EXON Missense_R267H,Missense_R267H,Missense_R267H,Missense_R267H,Missense_R267H exm1047227 12 123434383 [A/G] NM_001243014,NM_203444,NM_001243013,NM_019625,NM_019624 ABCB9,ABCB9,ABCB9,ABCB9,ABCB9 EXON Missense_R267C,Missense_R267C,Missense_R267C,Missense_R267C,Missense_R267C exm1047233 12 123435026 [T/C] NM_001243014,NM_203444,NM_001243013,NM_019625,NM_019624 ABCB9,ABCB9,ABCB9,ABCB9,ABCB9 EXON Missense_V230I,Missense_V230I,Missense_V230I,Missense_V230I,Missense_V230I exm1757400 12 123444422 [A/C] NM_001243014,NM_203444,NM_001243013,NM_019625,NM_019624 ABCB9,ABCB9,ABCB9,ABCB9,ABCB9 EXON Missense_V121L,Missense_V121L,Missense_V121L,Missense_V121L,Missense_V121L exm1047254 12 123444506 [T/C] NM_001243014,NM_203444,NM_001243013,NM_019625,NM_019624 ABCB9,ABCB9,ABCB9,ABCB9,ABCB9 EXON Missense_V93M,Missense_V93M,Missense_V93M,Missense_V93M,Missense_V93M exm1047255 12 123444507 [T/G] NM_001243014,NM_203444,NM_001243013,NM_019625,NM_019624 ABCB9,ABCB9,ABCB9,ABCB9,ABCB9 EXON Missense_F92L,Missense_F92L,Missense_F92L,Missense_F92L,Missense_F92L exm1047256 12 123444519 [A/G] NM_001243014,NM_203444,NM_001243013,NM_019625,NM_019624 ABCB9,ABCB9,ABCB9,ABCB9,ABCB9 EXON Synonymous_L88L,Synonymous_L88L,Synonymous_L88L,Synonymous_L88L,Synonymous_L88L exm1047260 12 123444565 [A/G] NM_001243014,NM_203444,NM_001243013,NM_019625,NM_019624 ABCB9,ABCB9,ABCB9,ABCB9,ABCB9 EXON Missense_A73V,Missense_A73V,Missense_A73V,Missense_A73V,Missense_A73V exm1047268 12 123444767 [A/C] NM_001243014,NM_203444,NM_001243013,NM_019625,NM_019624 ABCB9,ABCB9,ABCB9,ABCB9,ABCB9 EXON Missense_A6S,Missense_A6S,Missense_A6S,Missense_A6S,Missense_A6S exm2271879 12 123447928 [T/C] NM_001243014,NM_203444,NM_001243013,NM_019625,NM_019624 ABCB9,ABCB9,ABCB9,ABCB9,ABCB9 Silent,Silent,Silent,Silent,Silent exm-rs7296418 12 123457619 [T/C] exm1047279 12 123461223 [A/G] NM_024623 OGFOD2 EXON Missense_R11Q exm1757408 12 123461267 [A/G] NM_024623 OGFOD2 EXON Missense_A26T exm1047286 12 123461303 [A/G] NM_024623 OGFOD2 EXON Missense_D38N exm1047289 12 123461436 [A/G] NM_024623 OGFOD2 EXON Missense_E48K exm1047299 12 123461516 [A/G] NM_024623 OGFOD2 EXON Synonymous_S74S exm1047306 12 123463042 [G/C] NM_024623 OGFOD2 EXON Missense_L93V exm1047316 12 123463411 [A/G] NM_024623 OGFOD2 EXON Missense_D155N exm1047320 12 123463489 [T/C] NM_024623 OGFOD2 EXON Missense_L181F exm1047326 12 123463633 [T/C] NM_024623 OGFOD2 EXON Missense_P205S exm1047332 12 123463739 [A/G] NM_024623 OGFOD2 EXON Missense_R240H exm1047333 12 123463750 [C/G] NM_024623 OGFOD2 EXON Missense_V244L exm1047335 12 123463771 [A/G] NM_024623 OGFOD2 EXON Missense_A251T exm1047342 12 123463868 [T/C] NM_024623 OGFOD2 EXON Missense_T283M exm1047348 12 123464956 [A/G] NM_016638,NM_001002251,NM_001002252,NM_018694 ARL6IP4,ARL6IP4,ARL6IP4,ARL6IP4 EXON Missense_G8R,Missense_G8R,Missense_G8R,Missense_G8R exm1047354 12 123465695 [C/G] NM_016638,NM_001002251,NM_001002252,NM_018694 ARL6IP4,ARL6IP4,ARL6IP4,ARL6IP4 EXON Missense_H126Q,Missense_H126Q,Missense_H126Q,Missense_H126Q exm1047368 12 123466159 [A/G] NM_016638,NM_001002251,NM_001002252,NM_018694 ARL6IP4,ARL6IP4,ARL6IP4,ARL6IP4 EXON Missense_A172T,Missense_A183T,Missense_A172T,Missense_A191T exm1047372 12 123466226 [T/C] NM_016638,NM_001002251,NM_001002252,NM_018694 ARL6IP4,ARL6IP4,ARL6IP4,ARL6IP4 EXON Missense_S194F,Missense_S205F,Missense_S194F,Missense_S213F exm1047380 12 123466304 [A/G] NM_016638,NM_001002251,NM_001002252,NM_018694 ARL6IP4,ARL6IP4,ARL6IP4,ARL6IP4 EXON Missense_K220R,Missense_K231R,Missense_K220R,Missense_K239R exm2220124 12 123466569 [A/G] NM_016638,NM_001002251,NM_001002252,NM_018694 ARL6IP4,ARL6IP4,ARL6IP4,ARL6IP4 EXON Missense_A283T,Missense_A294T,Missense_A283T,Missense_A302T exm1047402 12 123467177 [A/G] NM_016638,NM_001002251,NM_001002252,NM_018694 ARL6IP4,ARL6IP4,ARL6IP4,ARL6IP4 EXON Missense_R327Q,Missense_R338Q,Silent,Missense_R346Q exm1047403 12 123467204 [A/G] NM_016638,NM_001002251,NM_001002252,NM_018694 ARL6IP4,ARL6IP4,ARL6IP4,ARL6IP4 EXON Missense_R336Q,Missense_R347Q,Silent,Missense_R355Q exm1047460 12 123472168 [A/C] NM_020845 PITPNM2 EXON Missense_E1051D exm1047480 12 123474364 [A/G] NM_020845 PITPNM2 EXON Missense_P901S exm1047481 12 123474384 [T/C] NM_020845 PITPNM2 EXON Missense_S894N exm1047520 12 123480009 [T/G] NM_020845 PITPNM2 EXON Missense_L661M exm1047521 12 123480032 [A/C] NM_020845 PITPNM2 EXON Missense_G653V exm1047526 12 123480054 [T/C] NM_020845 PITPNM2 EXON Missense_V646I exm1047541 12 123481019 [T/C] NM_020845 PITPNM2 EXON Missense_V590M exm1047554 12 123481962 [T/C] NM_020845 PITPNM2 EXON Missense_R461H exm1047569 12 123485395 [A/T] NM_020845 PITPNM2 EXON Missense_D385V exm1047576 12 123489036 [A/G] NM_020845 PITPNM2 EXON Missense_A318V exm1047580 12 123489813 [T/A] NM_020845 PITPNM2 EXON Missense_K309M exm1047581 12 123489847 [A/G] NM_020845 PITPNM2 EXON Missense_R298C exm1047594 12 123494398 [A/G] NM_020845 PITPNM2 EXON Synonymous_T214T exm1047598 12 123494520 [T/C] NM_020845 PITPNM2 EXON Missense_E174K exm1047614 12 123519112 [A/G] NM_020845 PITPNM2 EXON Missense_P9L exm-rs1727307 12 123575742 [A/G] NM_020845 PITPNM2 Silent exm1047622 12 123641421 [T/C] NM_022782 MPHOSPH9 EXON Missense_R1010Q exm1047627 12 123645738 [T/C] NM_022782 MPHOSPH9 EXON Missense_R957Q exm1047632 12 123645805 [A/G] NM_022782 MPHOSPH9 EXON Missense_Y935H exm1047633 12 123645831 [T/G] NM_022782 MPHOSPH9 EXON Missense_A926D exm1047641 12 123647578 [A/C] NM_022782 MPHOSPH9 EXON Missense_N852K exm1047655 12 123651307 [T/C] NM_022782 MPHOSPH9 EXON Missense_R677Q exm1047657 12 123661254 [T/C] NM_022782 MPHOSPH9 EXON Missense_V661M exm1047664 12 123661295 [T/C] NM_022782 MPHOSPH9 EXON Missense_H647R exm1047676 12 123679039 [T/C] NM_022782 MPHOSPH9 EXON Missense_R560Q exm1047681 12 123679117 [T/C] NM_022782 MPHOSPH9 EXON Missense_S534N exm1047682 12 123679132 [T/C] NM_022782 MPHOSPH9 EXON Missense_R529H exm1047690 12 123682864 [A/C] NM_022782 MPHOSPH9 EXON Missense_S500I exm1047697 12 123687253 [T/G] NM_022782 MPHOSPH9 EXON Missense_Q415K exm1047699 12 123687307 [A/C] NM_022782 MPHOSPH9 EXON Missense_V397F exm1047711 12 123687517 [T/C] NM_022782 MPHOSPH9 EXON Missense_V327I exm1047718 12 123687613 [T/C] NM_022782 MPHOSPH9 EXON Missense_T295A exm1047720 12 123687822 [A/G] NM_022782 MPHOSPH9 EXON Missense_A280V exm1047731 12 123699323 [A/G] NM_022782 MPHOSPH9 EXON Missense_T200I exm1047733 12 123699377 [T/C] NM_022782 MPHOSPH9 EXON Missense_D182G exm1047737 12 123703037 [T/C] NM_022782 MPHOSPH9 EXON Missense_I142M exm1047739 12 123703045 [T/C] NM_022782 MPHOSPH9 EXON Missense_N140D exm1047740 12 123705962 [T/C] NM_022782 MPHOSPH9 EXON Missense_G125S exm1757566 12 123706244 [T/C] NM_022782 MPHOSPH9 EXON Missense_T31A exm1047752 12 123706250 [T/G] NM_022782 MPHOSPH9 EXON Missense_M29L exm1047756 12 123706306 [A/C] NM_022782 MPHOSPH9 EXON Missense_R10I exm1047757 12 123706313 [T/G] NM_022782 MPHOSPH9 EXON Missense_S8R exm1047762 12 123738265 [A/G] NM_152269,NM_001194995,NM_001143905 C12orf65,C12orf65,C12orf65 EXON Missense_R15Q,Missense_R15Q,Missense_R15Q exm1047775 12 123741403 [A/G] NM_152269,NM_001194995,NM_001143905 C12orf65,C12orf65,C12orf65 EXON Missense_R109Q,Missense_R109Q,Missense_R109Q exm1047779 12 123741490 [A/G] NM_152269,NM_001194995,NM_001143905 C12orf65,C12orf65,C12orf65 EXON Missense_K138R,Missense_K138R,Missense_K138R exm1047800 12 123751823 [T/C] NR_073008,NR_073007,NM_001270433,NM_001270434,NM_004642 CDK2AP1,CDK2AP1,CDK2AP1,CDK2AP1,CDK2AP1 EXON Silent,Silent,Silent,Silent,Missense_S21N exm2267473 12 123757861 [A/G] exm1047814 12 123780585 [A/G] NM_001167856,NM_018183 SBNO1,SBNO1 EXON Missense_P1351L,Missense_P1350L exm1047816 12 123782588 [T/C] NM_001167856,NM_018183 SBNO1,SBNO1 EXON Missense_S1326G,Missense_S1325G exm1047821 12 123782696 [T/C] NM_001167856,NM_018183 SBNO1,SBNO1 EXON Missense_S1290G,Missense_S1289G exm2220131 12 123789205 [T/A] NM_001167856,NM_018183 SBNO1,SBNO1 EXON Missense_F1231Y,Missense_F1230Y exm1047835 12 123794097 [T/C] NM_001167856,NM_018183 SBNO1,SBNO1 EXON Missense_S1159N,Missense_S1158N exm-rs4759375 12 123796238 [T/C] NM_001167856,NM_018183 SBNO1,SBNO1 Silent,Silent exm1047848 12 123798209 [T/C] NM_001167856,NM_018183 SBNO1,SBNO1 EXON Missense_M1060V,Missense_M1059V exm1047868 12 123806084 [T/C] NM_001167856,NM_018183 SBNO1,SBNO1 EXON Missense_N774S,Missense_N773S exm1047872 12 123806219 [T/C] NM_001167856,NM_018183 SBNO1,SBNO1 EXON Missense_S729N,Missense_S728N exm1047875 12 123806261 [T/C] NM_001167856,NM_018183 SBNO1,SBNO1 EXON Missense_E715G,Missense_E714G exm1047880 12 123808302 [T/C] NM_001167856,NM_018183 SBNO1,SBNO1 EXON Missense_D684N,Missense_D683N exm1047911 12 123814987 [A/C] NM_001167856,NM_018183 SBNO1,SBNO1 EXON Missense_I371M,Missense_I370M exm1047928 12 123820980 [A/C] NM_001167856,NM_018183 SBNO1,SBNO1 EXON Missense_G237V,Missense_G236V exm1047937 12 123825635 [A/G] NM_001167856,NM_018183 SBNO1,SBNO1 EXON Missense_T184I,Missense_T183I exm1047944 12 123832605 [T/C] NM_001167856,NM_018183 SBNO1,SBNO1 EXON Missense_V70I,Missense_V70I exm1047949 12 123834870 [A/G] NM_001167856,NM_018183 SBNO1,SBNO1 EXON Missense_P40L,Missense_P40L exm2271805 12 123873242 [T/C] NM_020382 SETD8 Silent exm1047966 12 123875330 [A/G] NM_020382 SETD8 EXON Missense_E96K exm1047979 12 123879801 [T/C] NM_020382 SETD8 EXON Missense_A166V exm1048013 12 123915089 [C/G] NM_145058 RILPL2 EXON Missense_L153V exm2220137 12 123921264 [T/G] NM_145058 RILPL2 EXON Silent exm1048037 12 123950117 [G/C] NM_022717,NM_180699 SNRNP35,SNRNP35 EXON Missense_E10D,Missense_E15D exm2250660 12 123950153 [T/C] NM_022717,NM_180699 SNRNP35,SNRNP35 EXON Synonymous_T22T,Synonymous_T27T exm1048043 12 123950176 [T/C] NM_022717,NM_180699 SNRNP35,SNRNP35 EXON Missense_A30V,Missense_A35V exm1048047 12 123950323 [A/G] NM_022717,NM_180699 SNRNP35,SNRNP35 EXON Missense_R79Q,Missense_R84Q exm1757703 12 123950400 [A/G] NM_022717,NM_180699 SNRNP35,SNRNP35 EXON Missense_V105M,Missense_V110M exm1048050 12 123950414 [C/G] NM_022717,NM_180699 SNRNP35,SNRNP35 EXON Nonsense_Y109X,Nonsense_Y114X exm1048059 12 123950628 [T/C] NM_022717,NM_180699 SNRNP35,SNRNP35 EXON Missense_R181W,Missense_R186W exm1048067 12 123950734 [T/C] NM_022717,NM_180699 SNRNP35,SNRNP35 EXON Missense_P216L,Missense_P221L exm1048070 12 123950779 [A/T] NM_022717,NM_180699 SNRNP35,SNRNP35 EXON Missense_F231Y,Missense_F236Y exm1048081 12 123968748 [A/G] NM_178314 RILPL1 EXON Missense_P349L exm1048090 12 123970282 [T/C] NM_178314 RILPL1 EXON Missense_R291H exm1048094 12 123983140 [T/C] NM_178314 RILPL1 EXON Missense_R251Q exm2250661 12 123983163 [A/C] NM_178314 RILPL1 EXON Synonymous_L243L exm1048101 12 124008074 [T/C] NM_178314 RILPL1 EXON Missense_N143S exm1048125 12 124081157 [A/G] NM_006815 TMED2 EXON Missense_D163N exm1048138 12 124090527 [T/C] NM_020936 DDX55 EXON Missense_A53V exm1048141 12 124090644 [A/G] NM_020936 DDX55 EXON Missense_A62T exm1048146 12 124090692 [T/A] NM_020936 DDX55 EXON Missense_L78I exm1048150 12 124092004 [T/C] NM_020936 DDX55 EXON Missense_T91I exm1048163 12 124093336 [G/C] NM_020936 DDX55 EXON Missense_D171H exm1048171 12 124094674 [T/C] NM_020936 DDX55 EXON Missense_M247T exm1048176 12 124097762 [T/C] NM_020936 DDX55 EXON Missense_R263C exm2276273 12 124097763 [A/G] NM_020936 DDX55 EXON Missense_R263H exm1048177 12 124097766 [A/G] NM_020936 DDX55 EXON Missense_N264S exm1757759 12 124097777 [A/G] NM_020936 DDX55 EXON Missense_E268K exm1048189 12 124101090 [A/G] NM_020936 DDX55 EXON Missense_R330Q exm1048192 12 124102305 [A/T] NM_020936 DDX55 EXON Missense_S350R exm2250663 12 124102329 [G/C] NM_020936 DDX55 EXON Synonymous_R358R exm1048208 12 124103253 [T/C] NM_020936 DDX55 EXON Missense_A401V exm1048211 12 124103283 [A/C] NM_020936 DDX55 EXON Missense_A411D exm1048216 12 124103995 [A/C] NM_020936 DDX55 EXON Missense_S450R exm1048222 12 124104074 [A/G] NM_020936 DDX55 EXON Missense_V477M exm1048225 12 124104143 [G/C] NM_020936 DDX55 EXON Missense_E500Q exm1048234 12 124104230 [A/G] NM_020936 DDX55 EXON Missense_E529K exm1048238 12 124104551 [A/G] NM_020936 DDX55 EXON Missense_N556S exm1048251 12 124107200 [T/C] NM_001414 EIF2B1 EXON Missense_V246I exm1048266 12 124111649 [T/C] NM_001414 EIF2B1 EXON Missense_V142M exm1048274 12 124114943 [T/C] NM_001414 EIF2B1 Silent exm1048275 12 124114944 [A/G] NM_001414 EIF2B1 EXON Synonymous_S84S exm1757802 12 124118098 [A/C] NM_001414 EIF2B1 EXON Missense_D3Y exm1048294 12 124118409 [A/G] NM_001271866,NM_001516,NM_001271868,NM_001271867 GTF2H3,GTF2H3,GTF2H3,GTF2H3 EXON Missense_M1I,Missense_M1I,Silent,Silent exm1048328 12 124144076 [T/C] NM_001271866,NM_001516,NM_001271868,NM_001271867 GTF2H3,GTF2H3,GTF2H3,GTF2H3 EXON Missense_T167M,Missense_T210M,Missense_T64M,Missense_T169M exm1048330 12 124144129 [G/C] NM_001271866,NM_001516,NM_001271868,NM_001271867 GTF2H3,GTF2H3,GTF2H3,GTF2H3 EXON Missense_L185V,Missense_L228V,Missense_L82V,Missense_L187V exm1048354 12 124155863 [T/G] NM_024809,NM_001143850 TCTN2,TCTN2 EXON Missense_D26Y,Missense_D26Y exm1048359 12 124156614 [A/G] NM_024809,NM_001143850 TCTN2,TCTN2 EXON Missense_I68V,Missense_I68V exm1048363 12 124156671 [T/C] NM_024809,NM_001143850 TCTN2,TCTN2 EXON Missense_P87S,Missense_P87S exm1048373 12 124171389 [T/G] NM_024809,NM_001143850 TCTN2,TCTN2 EXON Missense_S191A,Missense_S190A exm1048377 12 124171417 [A/G] NM_024809,NM_001143850 TCTN2,TCTN2 EXON Missense_R200Q,Missense_R199Q exm1048381 12 124171453 [A/G] NM_024809,NM_001143850 TCTN2,TCTN2 EXON Missense_N212S,Missense_N211S exm1048384 12 124171486 [T/C] NM_024809,NM_001143850 TCTN2,TCTN2 EXON Missense_T223M,Missense_T222M exm1048393 12 124172609 [A/G] NM_024809,NM_001143850 TCTN2,TCTN2 EXON Missense_Q259R,Missense_Q258R exm1048416 12 124181019 [T/C] NM_024809,NM_001143850 TCTN2,TCTN2 EXON Missense_T457M,Missense_T456M exm1048428 12 124184330 [G/C] NM_024809,NM_001143850 TCTN2,TCTN2 EXON Missense_L529V,Missense_L528V exm1048430 12 124189109 [T/C] NM_024809,NM_001143850 TCTN2,TCTN2 EXON Missense_P548L,Missense_P547L exm1048454 12 124209215 [T/G] NM_012463 ATP6V0A2 EXON Missense_K103N exm1048468 12 124210826 [A/G] NM_012463 ATP6V0A2 EXON Missense_K172R exm1048475 12 124212422 [T/C] NM_012463 ATP6V0A2 EXON Missense_A205V exm1048481 12 124220115 [A/G] NM_012463 ATP6V0A2 EXON Missense_E257K exm1048482 12 124220119 [A/G] NM_012463 ATP6V0A2 EXON Missense_E258G exm1048500 12 124221774 [A/G] NM_012463 ATP6V0A2 EXON Missense_E332K exm1048502 12 124221796 [A/G] NM_012463 ATP6V0A2 EXON Missense_R339H exm1048505 12 124228362 [T/A] NM_012463 ATP6V0A2 EXON Missense_M357L exm1048519 12 124228816 [T/G] NM_012463 ATP6V0A2 EXON Missense_V420L exm1048530 12 124229303 [A/G] NM_012463 ATP6V0A2 EXON Missense_A496T exm1048533 12 124229429 [T/C] NM_012463 ATP6V0A2 EXON Synonymous_N505N exm1048539 12 124232214 [A/G] NM_012463 ATP6V0A2 EXON Missense_V556M exm1048542 12 124233163 [T/C] NM_012463 ATP6V0A2 EXON Missense_P589L exm2250664 12 124233269 [A/G] NM_012463 ATP6V0A2 EXON Synonymous_L624L exm1048548 12 124235691 [T/C] NM_012463 ATP6V0A2 EXON Missense_A657V exm1048555 12 124235775 [A/G] NM_012463 ATP6V0A2 EXON Missense_R685Q exm1048556 12 124236838 [A/C] NM_012463 ATP6V0A2 EXON Nonsense_Y688X exm1048578 12 124241452 [T/C] NM_012463 ATP6V0A2 EXON Missense_A795V exm1048580 12 124241506 [T/C] NM_012463 ATP6V0A2 EXON Missense_A813V exm1048587 12 124242557 [A/G] NM_012463 ATP6V0A2 EXON Missense_N850S exm1048594 12 124252160 [A/G] NM_207437 DNAH10 EXON Missense_I13M exm1048597 12 124256153 [T/C] NM_207437 DNAH10 EXON Missense_R41C exm1048601 12 124256247 [T/G] NM_207437 DNAH10 Silent exm1048602 12 124257388 [T/C] NM_207437 DNAH10 EXON Missense_A74V exm1757929 12 124257441 [A/G] NM_207437 DNAH10 EXON Missense_E92K exm1757933 12 124258725 [A/G] NM_207437 DNAH10 EXON Missense_E118K exm1048611 12 124265687 [T/C] NM_207437 DNAH10 EXON Missense_S167P exm1048618 12 124265777 [T/C] NM_207437 DNAH10 EXON Missense_R197W exm1048625 12 124267713 [A/G] NM_207437 DNAH10 EXON Missense_A240T exm1048629 12 124267746 [T/C] NM_207437 DNAH10 EXON Missense_C251R exm1048633 12 124268493 [A/G] NM_207437 DNAH10 Silent exm1048634 12 124268494 [A/G] NM_207437 DNAH10 EXON Missense_G273S exm1048642 12 124268672 [T/C] NM_207437 DNAH10 EXON Missense_T332M exm1048644 12 124268693 [A/G] NM_207437 DNAH10 EXON Missense_R339H exm1048645 12 124268721 [C/G] NM_207437 DNAH10 EXON Missense_F348L exm1048648 12 124270348 [T/C] NM_207437 DNAH10 EXON Missense_M368T exm1048650 12 124270365 [A/G] NM_207437 DNAH10 EXON Missense_V374M exm1048657 12 124270428 [A/G] NM_207437 DNAH10 EXON Missense_A395T exm1048661 12 124270471 [A/G] NM_207437 DNAH10 EXON Missense_R409Q exm1048669 12 124272449 [T/C] NM_207437 DNAH10 EXON Missense_A446V exm1757941 12 124272482 [A/G] NM_207437 DNAH10 EXON Missense_R457Q exm1048680 12 124274625 [A/C] NM_207437 DNAH10 EXON Missense_Q530P exm1048686 12 124281300 [A/C] NM_207437 DNAH10 EXON Missense_S577Y exm1757954 12 124281369 [A/G] NM_207437 DNAH10 EXON Missense_R600Q exm1048706 12 124285870 [T/G] NM_207437 DNAH10 EXON Missense_M717I exm1048715 12 124288264 [A/G] NM_207437 DNAH10 EXON Missense_V773I exm1048722 12 124289382 [A/G] NM_207437 DNAH10 EXON Missense_V810M exm1048724 12 124289410 [A/G] NM_207437 DNAH10 EXON Missense_R819Q exm1048726 12 124289423 [A/C] NM_207437 DNAH10 EXON Missense_S823R exm1048727 12 124289493 [A/G] NM_207437 DNAH10 EXON Missense_V847I exm1048733 12 124293351 [G/C] NM_207437 DNAH10 EXON Missense_Q881E exm1048744 12 124297780 [G/C] NM_207437 DNAH10 EXON Missense_V954L exm1048747 12 124297855 [A/G] NM_207437 DNAH10 EXON Missense_V979I exm1048748 12 124297874 [A/G] NM_207437 DNAH10 EXON Missense_N985S exm1048749 12 124297903 [T/C] NM_207437 DNAH10 EXON Missense_R995W exm1048753 12 124297973 [A/G] NM_207437 DNAH10 EXON Missense_C1018Y exm1048757 12 124298029 [T/C] NM_207437 DNAH10 EXON Missense_R1037C exm1048758 12 124298030 [A/G] NM_207437 DNAH10 EXON Missense_R1037H exm1048760 12 124298077 [T/C] NM_207437 DNAH10 EXON Missense_H1053Y exm2220151 12 124298078 [A/G] NM_207437 DNAH10 EXON Missense_H1053R exm2220153 12 124298173 [T/C] NM_207437 DNAH10 EXON Missense_H1085Y exm1048769 12 124298332 [A/G] NM_207437 DNAH10 EXON Missense_N1100S exm1048780 12 124303579 [A/G] NM_207437 DNAH10 EXON Missense_H1170R exm1048783 12 124303707 [A/G] NM_207437 DNAH10 EXON Missense_E1186K exm1048792 12 124305213 [A/G] NM_207437 DNAH10 EXON Missense_D1245N exm1048797 12 124311255 [T/C] NM_207437 DNAH10 EXON Nonsense_Q1283X exm1048804 12 124315142 [A/G] NM_207437 DNAH10 EXON Missense_E1363K exm1757985 12 124315196 [G/C] NM_207437 DNAH10 EXON Missense_V1381L exm1048811 12 124317700 [T/C] NM_207437 DNAH10 EXON Missense_F1411L exm1048812 12 124317737 [A/G] NM_207437 DNAH10 EXON Missense_R1423Q exm1048820 12 124323006 [A/G] NM_207437 DNAH10 EXON Missense_M1518V exm1048825 12 124323060 [T/C] NM_207437 DNAH10 EXON Missense_R1536C exm1048828 12 124323081 [A/G] NM_207437 DNAH10 EXON Missense_V1543I exm1048829 12 124323087 [A/G] NM_207437 DNAH10 EXON Missense_E1545K exm1048846 12 124325977 [T/G] NM_207437 DNAH10 EXON Missense_L1631V exm1048851 12 124330148 [A/G] NM_207437 DNAH10 EXON Missense_V1670I exm1048858 12 124330292 [A/C] NM_207437 DNAH10 EXON Missense_Q1718K exm1048861 12 124330311 [T/C] NM_207437 DNAH10 EXON Missense_T1724M exm1048869 12 124330542 [A/C] NM_207437 DNAH10 EXON Missense_D1767E exm1048885 12 124332641 [A/G] NM_207437 DNAH10 EXON Missense_R1865K exm1048891 12 124333367 [A/G] NM_207437 DNAH10 EXON Missense_V1896M exm1048894 12 124333401 [T/C] NM_207437 DNAH10 EXON Missense_A1907V exm1048901 12 124337772 [T/C] NM_207437 DNAH10 EXON Missense_T1986M exm1048902 12 124337792 [T/C] NM_207437 DNAH10 EXON Missense_R1993W exm1048918 12 124341723 [T/C] NM_207437 DNAH10 EXON Missense_R2069C exm1048920 12 124341753 [G/C] NM_207437 DNAH10 EXON Missense_Q2079E exm1048924 12 124341778 [T/C] NM_207437 DNAH10 EXON Missense_A2087V exm1048928 12 124343717 [A/G] NM_207437 DNAH10 EXON Missense_M2099I exm2274635 12 124343746 [T/C] NM_207437 DNAH10 EXON Missense_T2109M exm1048932 12 124343779 [A/C] NM_207437 DNAH10 EXON Missense_S2120Y exm1048935 12 124343814 [A/G] NM_207437 DNAH10 EXON Missense_K2132E exm1048946 12 124349236 [G/C] NM_207437 DNAH10 EXON Missense_E2217Q exm1048949 12 124352122 [A/G] NM_207437 DNAH10 EXON Missense_I2308V exm1048951 12 124352505 [T/A] NM_207437 DNAH10 EXON Missense_L2335H exm1048955 12 124352603 [T/C] NM_207437 DNAH10 EXON Missense_R2368C exm2271806 12 124353657 [T/C] NM_207437 DNAH10 Silent exm1048958 12 124354954 [T/C] NM_207437 DNAH10 EXON Missense_R2403W exm1758065 12 124356025 [A/G] NM_207437 DNAH10 EXON Missense_R2436Q exm1048970 12 124358121 [A/G] NM_207437 DNAH10 EXON Missense_N2483S exm1048976 12 124358244 [T/C] NM_207437 DNAH10 EXON Missense_M2524T exm1048986 12 124359926 [A/G] NM_207437 DNAH10 EXON Missense_R2578H exm1048990 12 124360037 [T/C] NM_207437 DNAH10 EXON Missense_S2615L exm1048997 12 124362437 [T/C] NM_207437 DNAH10 EXON Missense_V2667A exm1048998 12 124362449 [T/C] NM_207437 DNAH10 EXON Missense_P2671L exm1049000 12 124362452 [A/G] NM_207437 DNAH10 EXON Missense_E2672G exm1049004 12 124364229 [A/G] NM_207437 DNAH10 EXON Missense_V2721M exm1049008 12 124364298 [T/C] NM_207437 DNAH10 EXON Missense_R2744C exm1049011 12 124364329 [T/C] NM_207437 DNAH10 EXON Missense_A2754V exm2274636 12 124366269 [A/G] NM_207437 DNAH10 EXON Missense_R2793H exm1049033 12 124371744 [T/A] NM_207437 DNAH10 EXON Missense_L2842Q exm1049034 12 124371782 [A/G] NM_207437 DNAH10 EXON Missense_A2855T exm1049041 12 124377896 [A/G] NM_207437 DNAH10 EXON Missense_V2920M exm1049052 12 124379261 [A/T] NM_207437 DNAH10 EXON Missense_S2973T exm1049055 12 124382363 [C/G] NM_207437 DNAH10 EXON Missense_K2991N exm1049060 12 124382430 [A/G] NM_207437 DNAH10 EXON Missense_S3014G exm1049069 12 124383313 [A/G] NM_207437 DNAH10 EXON Missense_A3080T exm1758089 12 124387491 [A/G] NM_207437 DNAH10 EXON Missense_E3098K exm1049077 12 124387542 [A/G] NM_207437 DNAH10 EXON Missense_K3115E exm1049090 12 124393827 [A/G] NM_207437 DNAH10 EXON Missense_K3161E exm1049091 12 124393840 [T/C] NM_207437 DNAH10 EXON Missense_T3165M exm1049099 12 124393969 [A/G] NM_207437 DNAH10 EXON Missense_S3208N exm1049116 12 124397810 [T/C] NM_207437 DNAH10 EXON Missense_R3316W exm1049122 12 124398890 [T/A] NM_207437 DNAH10 EXON Missense_L3338Q exm1049124 12 124398913 [G/C] NM_207437 DNAH10 EXON Missense_V3346L exm1049131 12 124399051 [G/C] NM_207437 DNAH10 EXON Missense_P3392A exm1758105 12 124399076 [T/C] NM_207437 DNAH10 EXON Missense_T3400M exm1049138 12 124399460 [T/C] NM_207437 DNAH10 EXON Missense_R3428W exm2220160 12 124399524 [A/G] NM_207437 DNAH10 EXON Missense_K3449R exm1049144 12 124401027 [A/C] NM_207437 DNAH10 EXON Missense_D3464E exm1049148 12 124401080 [A/G] NM_207437 DNAH10 EXON Missense_R3482H exm1049150 12 124401083 [A/C] NM_207437 DNAH10 EXON Missense_D3483A exm1049154 12 124401172 [A/G] NM_207437 DNAH10 EXON Missense_D3513N exm1049163 12 124402205 [T/C] NM_207437 DNAH10 EXON Missense_R3575W exm1049165 12 124402341 [T/C] NM_207437 DNAH10 EXON Missense_T3620I exm1049166 12 124402360 [A/G] NM_207437 DNAH10 EXON Synonymous_E3626E exm1049173 12 124403353 [T/C] NM_207437 DNAH10 EXON Missense_S3670F exm1049178 12 124403439 [T/C] NM_207437 DNAH10 EXON Missense_R3699C exm1758117 12 124403451 [A/C] NM_207437 DNAH10 EXON Missense_I3703L exm1049186 12 124409630 [T/G] NM_207437 DNAH10 EXON Missense_V3816F exm1049191 12 124409693 [T/C] NM_207437 DNAH10 EXON Missense_R3837C exm1049194 12 124409745 [A/G] NM_207437 DNAH10 EXON Missense_G3854E exm1049195 12 124411200 [A/G] NM_207437 DNAH10 EXON Missense_M3862V exm1049202 12 124411329 [T/C] NM_207437 DNAH10 EXON Missense_R3905C exm1049207 12 124413089 [A/C] NM_207437 DNAH10 EXON Missense_D3969E exm1049209 12 124413109 [T/C] NM_207437 DNAH10 EXON Missense_I3976T exm1049212 12 124413846 [A/C] NM_207437 DNAH10 EXON Missense_L3993M exm1049214 12 124413860 [A/G] NM_207437 DNAH10 EXON Missense_M3997I exm1758133 12 124414259 [T/C] NM_207437 DNAH10 EXON Missense_R4071W exm1049227 12 124414260 [A/G] NM_207437 DNAH10 EXON Missense_R4071Q exm1049239 12 124415916 [C/G] NM_207437 DNAH10 EXON Missense_N4153K exm1049252 12 124416338 [T/G] NM_207437 DNAH10 EXON Nonsense_E4240X exm1049268 12 124417942 [T/C] NM_207437 DNAH10 EXON Missense_T4336M exm1049271 12 124417989 [T/C] NM_207437 DNAH10 EXON Missense_R4352C exm1049275 12 124419213 [T/C] NM_207437 DNAH10 EXON Missense_I4390T exm1049278 12 124419287 [A/G] NM_207437 DNAH10 EXON Missense_I4415V exm1049302 12 124421759 [T/C] NM_025140 CCDC92 EXON Missense_R281H exm1049313 12 124421844 [T/C] NM_025140 CCDC92 EXON Missense_A253T exm1049315 12 124421900 [T/C] NM_025140 CCDC92 EXON Missense_R234Q exm1049332 12 124422135 [T/C] NM_025140 CCDC92 EXON Missense_A156T exm1049338 12 124422261 [T/C] NM_025140 CCDC92 EXON Missense_A114T exm1049343 12 124422324 [T/C] NM_025140 CCDC92 EXON Missense_A93T exm1049346 12 124422346 [A/C] NM_025140 CCDC92 EXON Missense_K85N exm1049349 12 124427306 [T/A] NM_025140 CCDC92 EXON Missense_S70C exm1049355 12 124427987 [T/C] NM_025140 CCDC92 EXON Missense_A30T exm1049357 12 124427991 [G/C] NM_025140 CCDC92 EXON Missense_H28Q exm-rs4765127 12 124460167 [T/G] NM_152437,NM_001204298,NM_001204299 ZNF664,ZNF664,ZNF664-FAM101A Silent,Silent,Silent exm1049369 12 124496864 [T/G] NM_152437,NM_001204298,NM_001204299 ZNF664,ZNF664,ZNF664-FAM101A EXON Missense_V58G,Missense_V58G,Silent exm1049373 12 124497113 [A/G] NM_152437,NM_001204298,NM_001204299 ZNF664,ZNF664,ZNF664-FAM101A EXON Missense_K141R,Missense_K141R,Silent exm1049391 12 124497439 [A/G] NM_152437,NM_001204298,NM_001204299 ZNF664,ZNF664,ZNF664-FAM101A EXON Missense_T250A,Missense_T250A,Silent exm1049407 12 124798797 [T/C] NM_001204299,NM_181709 ZNF664-FAM101A,FAM101A EXON Missense_A45V,Missense_A45V exm1049411 12 124798811 [A/G] NM_001204299,NM_181709 ZNF664-FAM101A,FAM101A EXON Missense_V50I,Missense_V50I exm1049413 12 124798863 [A/G] NM_001204299,NM_181709 ZNF664-FAM101A,FAM101A EXON Missense_N67S,Missense_N67S exm1049418 12 124798913 [T/C] NM_001204299,NM_181709 ZNF664-FAM101A,FAM101A EXON Missense_R84C,Missense_R84C exm-rs1809889 12 124801226 [T/C] exm1049435 12 124810093 [T/C] NM_001206654,NM_001077261,NM_006312 NCOR2,NCOR2,NCOR2 EXON Missense_R2457Q,Missense_R2411Q,Missense_R2467Q exm1049439 12 124810784 [T/C] NM_001206654,NM_001077261,NM_006312 NCOR2,NCOR2,NCOR2 EXON Missense_R2429Q,Missense_R2383Q,Missense_R2439Q exm1049448 12 124810911 [T/C] NM_001206654,NM_001077261,NM_006312 NCOR2,NCOR2,NCOR2 EXON Missense_G2387S,Missense_G2341S,Missense_G2397S exm1049451 12 124811972 [T/C] NM_001206654,NM_001077261,NM_006312 NCOR2,NCOR2,NCOR2 EXON Missense_H2379R,Silent,Missense_H2389R exm1049453 12 124811994 [T/C] NM_001206654,NM_001077261,NM_006312 NCOR2,NCOR2,NCOR2 EXON Missense_A2372T,Silent,Missense_A2382T exm1049458 12 124812062 [A/G] NM_001206654,NM_001077261,NM_006312 NCOR2,NCOR2,NCOR2 EXON Missense_P2349L,Silent,Missense_P2359L exm1049466 12 124815439 [T/C] NM_001206654,NM_001077261,NM_006312 NCOR2,NCOR2,NCOR2 EXON Missense_S2294G,Missense_S2294G,Missense_S2304G exm1049480 12 124817719 [T/C] NM_001206654,NM_001077261,NM_006312 NCOR2,NCOR2,NCOR2 EXON Missense_V2228M,Missense_V2228M,Missense_V2238M exm1049484 12 124817757 [A/G] NM_001206654,NM_001077261,NM_006312 NCOR2,NCOR2,NCOR2 EXON Missense_P2215L,Missense_P2215L,Missense_P2225L exm1049486 12 124817779 [T/C] NM_001206654,NM_001077261,NM_006312 NCOR2,NCOR2,NCOR2 EXON Missense_G2208S,Missense_G2208S,Missense_G2218S exm1049488 12 124817806 [T/G] NM_001206654,NM_001077261,NM_006312 NCOR2,NCOR2,NCOR2 EXON Missense_T2199P,Missense_T2199P,Missense_T2209P exm1049489 12 124817824 [A/T] NM_001206654,NM_001077261,NM_006312 NCOR2,NCOR2,NCOR2 EXON Missense_S2193T,Missense_S2193T,Missense_S2203T exm1049506 12 124820043 [T/C] NM_001206654,NM_001077261,NM_006312 NCOR2,NCOR2,NCOR2 EXON Missense_R2074Q,Missense_R2074Q,Missense_R2084Q exm1049520 12 124821403 [A/G] NM_001206654,NM_001077261,NM_006312 NCOR2,NCOR2,NCOR2 EXON Missense_A1994V,Missense_A1994V,Missense_A2004V exm2263743 12 124821413 [A/G] NM_001206654,NM_001077261,NM_006312 NCOR2,NCOR2,NCOR2 EXON Missense_P1991S,Missense_P1991S,Missense_P2001S exm1049523 12 124821416 [T/C] NM_001206654,NM_001077261,NM_006312 NCOR2,NCOR2,NCOR2 EXON Missense_A1990T,Missense_A1990T,Missense_A2000T exm1758246 12 124824561 [A/G] NM_001206654,NM_001077261,NM_006312 NCOR2,NCOR2,NCOR2 EXON Missense_T1883M,Missense_T1883M,Missense_T1893M exm1049548 12 124824613 [A/G] NM_001206654,NM_001077261,NM_006312 NCOR2,NCOR2,NCOR2 EXON Missense_H1866Y,Missense_H1866Y,Missense_H1876Y exm2220168 12 124824641 [T/A] NM_001206654,NM_001077261,NM_006312 NCOR2,NCOR2,NCOR2 EXON Missense_D1856E,Missense_D1856E,Missense_D1866E exm1049561 12 124824721 [T/C] NM_001206654,NM_001077261,NM_006312 NCOR2,NCOR2,NCOR2 EXON Missense_G1830R,Missense_G1830R,Missense_G1840R exm1049562 12 124824726 [A/C] NM_001206654,NM_001077261,NM_006312 NCOR2,NCOR2,NCOR2 EXON Missense_S1828I,Missense_S1828I,Missense_S1838I exm1049569 12 124824869 [A/G] NM_001206654,NM_001077261,NM_006312 NCOR2,NCOR2,NCOR2 EXON Missense_T1810M,Missense_T1810M,Missense_T1820M exm1758262 12 124826453 [C/G] NM_001206654,NM_001077261,NM_006312 NCOR2,NCOR2,NCOR2 EXON Missense_A1692P,Missense_A1692P,Missense_A1702P exm1049596 12 124826462 [T/C] NM_001206654,NM_001077261,NM_006312 NCOR2,NCOR2,NCOR2 EXON Missense_A1689T,Missense_A1689T,Missense_A1699T exm1049604 12 124826619 [A/G] NM_001206654,NM_001077261,NM_006312 NCOR2,NCOR2,NCOR2 EXON Synonymous_A1636A,Synonymous_A1636A,Synonymous_A1646A exm2276276 12 124827710 [A/C] NM_001206654,NM_001077261,NM_006312 NCOR2,NCOR2,NCOR2 EXON Missense_A1583S,Missense_A1583S,Missense_A1593S exm1049617 12 124827763 [A/G] NM_001206654,NM_001077261,NM_006312 NCOR2,NCOR2,NCOR2 EXON Missense_S1565L,Missense_S1565L,Missense_S1575L exm1049619 12 124829179 [T/C] NM_001206654,NM_001077261,NM_006312 NCOR2,NCOR2,NCOR2 EXON Missense_V1550M,Missense_V1550M,Missense_V1560M exm1049626 12 124829305 [T/A] NM_001206654,NM_001077261,NM_006312 NCOR2,NCOR2,NCOR2 EXON Missense_S1508T,Missense_S1508T,Missense_S1518T exm2250667 12 124831278 [A/G] NM_001206654,NM_001077261,NM_006312 NCOR2,NCOR2,NCOR2 EXON Synonymous_Y1387Y,Synonymous_Y1387Y,Synonymous_Y1397Y exm2220171 12 124832445 [T/C] NM_001206654,NM_001077261,NM_006312 NCOR2,NCOR2,NCOR2 EXON Missense_R1323H,Missense_R1323H,Missense_R1333H exm1049657 12 124832753 [T/C] NM_001206654,NM_001077261,NM_006312 NCOR2,NCOR2,NCOR2 EXON Missense_V1308M,Missense_V1308M,Missense_V1318M exm1049658 12 124832794 [A/G] NM_001206654,NM_001077261,NM_006312 NCOR2,NCOR2,NCOR2 EXON Missense_T1294M,Missense_T1294M,Missense_T1304M exm1049659 12 124832825 [T/C] NM_001206654,NM_001077261,NM_006312 NCOR2,NCOR2,NCOR2 EXON Missense_G1284S,Missense_G1284S,Missense_G1294S exm1758289 12 124835208 [A/G] NM_001206654,NM_001077261,NM_006312 NCOR2,NCOR2,NCOR2 EXON Missense_R1247C,Missense_R1247C,Missense_R1257C exm1758290 12 124835212 [G/C] NM_001206654,NM_001077261,NM_006312 NCOR2,NCOR2,NCOR2 EXON Missense_L1245F,Missense_L1245F,Missense_L1255F exm1049669 12 124835217 [A/G] NM_001206654,NM_001077261,NM_006312 NCOR2,NCOR2,NCOR2 EXON Missense_R1244C,Missense_R1244C,Missense_R1254C exm1049676 12 124835279 [A/G] NM_001206654,NM_001077261,NM_006312 NCOR2,NCOR2,NCOR2 EXON Missense_T1223M,Missense_T1223M,Missense_T1233M exm1049683 12 124838721 [A/G] NM_001206654,NM_001077261,NM_006312 NCOR2,NCOR2,NCOR2 EXON Missense_P1194L,Missense_P1194L,Missense_P1204L exm1049710 12 124840084 [A/G] NM_001206654,NM_001077261,NM_006312 NCOR2,NCOR2,NCOR2 EXON Missense_A1082V,Missense_A1082V,Missense_A1092V exm2267474 12 124844581 [A/G] NM_001206654,NM_001077261,NM_006312 NCOR2,NCOR2,NCOR2 Silent,Silent,Silent exm1049731 12 124846833 [T/G] NM_001206654,NM_001077261,NM_006312 NCOR2,NCOR2,NCOR2 EXON Missense_K962T,Missense_K962T,Missense_K980T exm1049733 12 124848229 [T/G] NM_001206654,NM_001077261,NM_006312 NCOR2,NCOR2,NCOR2 EXON Missense_P957H,Missense_P957H,Missense_P975H exm1049738 12 124856569 [A/G] NM_001206654,NM_001077261,NM_006312 NCOR2,NCOR2,NCOR2 EXON Missense_R918W,Missense_R918W,Missense_R936W exm1049739 12 124856578 [T/C] NM_001206654,NM_001077261,NM_006312 NCOR2,NCOR2,NCOR2 EXON Missense_D915N,Missense_D915N,Missense_D933N exm1049762 12 124856830 [T/C] NM_001206654,NM_001077261,NM_006312 NCOR2,NCOR2,NCOR2 EXON Missense_E831K,Missense_E831K,Missense_E849K exm1049792 12 124862887 [A/G] NM_001206654,NM_001077261,NM_006312 NCOR2,NCOR2,NCOR2 EXON Missense_A687V,Missense_A687V,Missense_A688V exm1049813 12 124886983 [A/G] NM_001206654,NM_001077261,NM_006312 NCOR2,NCOR2,NCOR2 EXON Missense_P535L,Missense_P535L,Missense_P536L exm1049869 12 124950774 [A/G] NM_001206654,NM_001077261,NM_006312 NCOR2,NCOR2,NCOR2 EXON Missense_P217L,Missense_P217L,Missense_P217L exm1049875 12 124957565 [T/C] NM_001206654,NM_001077261,NM_006312 NCOR2,NCOR2,NCOR2 EXON Missense_N175S,Missense_N175S,Missense_N175S exm1049884 12 124968239 [T/C] NM_001206654,NM_001077261,NM_006312 NCOR2,NCOR2,NCOR2 EXON Missense_S105N,Missense_S105N,Missense_S105N exm1758377 12 124968240 [T/C] NM_001206654,NM_001077261,NM_006312 NCOR2,NCOR2,NCOR2 EXON Missense_S105G,Missense_S105G,Missense_S105G exm1049895 12 124971065 [T/C] NM_001206654,NM_001077261,NM_006312 NCOR2,NCOR2,NCOR2 EXON Missense_H52R,Missense_H52R,Missense_H52R exm1049897 12 124979693 [T/C] NM_001206654,NM_001077261,NM_006312 NCOR2,NCOR2,NCOR2 EXON Synonymous_T35T,Synonymous_T35T,Synonymous_T35T exm1049902 12 124979749 [A/G] NM_001206654,NM_001077261,NM_006312 NCOR2,NCOR2,NCOR2 EXON Missense_P17S,Missense_P17S,Missense_P17S exm2267475 12 125179253 [A/G] exm-rs838880 12 125261593 [T/C] exm1049931 12 125271046 [A/C] NM_005505,NM_001082959 SCARB1,SCARB1 EXON Missense_G420W,Missense_G420W exm1049937 12 125271996 [T/C] NM_005505,NM_001082959 SCARB1,SCARB1 EXON Missense_G404R,Missense_G404R exm1049945 12 125284671 [A/G] NM_005505,NM_001082959 SCARB1,SCARB1 EXON Missense_P376L,Missense_P376L exm-rs838905 12 125291006 [A/G] NM_005505,NM_001082959 SCARB1,SCARB1 Silent,Silent exm1049952 12 125292325 [T/C] NM_005505,NM_001082959 SCARB1,SCARB1 EXON Missense_V331I,Missense_V331I exm1049954 12 125292360 [A/C] NM_005505,NM_001082959 SCARB1,SCARB1 EXON Missense_G319V,Missense_G319V exm1049963 12 125294751 [A/G] NM_005505,NM_001082959 SCARB1,SCARB1 EXON Missense_S271P,Missense_S271P exm1049965 12 125294817 [A/C] NM_005505,NM_001082959 SCARB1,SCARB1 EXON Missense_D249Y,Missense_D249Y exm1049976 12 125296427 [T/C] NM_005505,NM_001082959 SCARB1,SCARB1 EXON Missense_G239R,Missense_G239R exm1049977 12 125296442 [T/C] NM_005505,NM_001082959 SCARB1,SCARB1 EXON Missense_V234M,Missense_V234M exm2220183 12 125296457 [T/C] NM_005505,NM_001082959 SCARB1,SCARB1 EXON Missense_S229G,Missense_S229G exm1049985 12 125298855 [T/C] NM_005505,NM_001082959 SCARB1,SCARB1 EXON Missense_T175A,Missense_T175A exm2220184 12 125298872 [T/C] NM_005505,NM_001082959 SCARB1,SCARB1 EXON Missense_R169H,Missense_R169H exm1049990 12 125299542 [T/C] NM_005505,NM_001082959 SCARB1,SCARB1 EXON Missense_V135I,Missense_V135I exm1049992 12 125299559 [A/G] NM_005505,NM_001082959 SCARB1,SCARB1 EXON Missense_S129L,Missense_S129L exm1049995 12 125299614 [T/C] NM_005505,NM_001082959 SCARB1,SCARB1 EXON Missense_V111M,Missense_V111M exm-rs11057830 12 125307053 [A/G] NM_005505,NM_001082959 SCARB1,SCARB1 Silent,Silent exm2250670 12 125318772 [T/C] NM_005505,NM_001082959 SCARB1,SCARB1 Silent,Silent exm-rs4765623 12 125320850 [T/C] NM_005505,NM_001082959 SCARB1,SCARB1 Silent,Silent exm2273502 12 125396218 [A/G] NM_021009 UBC EXON Silent exm2250672 12 125398309 [A/G] NM_021009 UBC EXON Synonymous_I3I exm1050130 12 125398319 [A/G] NM_021009 UBC EXON Silent exm2271808 12 125427751 [T/C] exm1050132 12 125432380 [T/C] NM_032656 DHX37 EXON Missense_E1148K exm1050133 12 125432382 [A/G] NM_032656 DHX37 EXON Missense_I1147T exm1758497 12 125432696 [A/C] NM_032656 DHX37 EXON Missense_A1108S exm1050148 12 125434580 [T/C] NM_032656 DHX37 EXON Missense_R1081Q exm1050149 12 125434595 [T/G] NM_032656 DHX37 EXON Missense_K1076T exm1758500 12 125434598 [T/C] NM_032656 DHX37 EXON Missense_R1075H exm1050156 12 125434760 [T/C] NM_032656 DHX37 EXON Missense_E1051K exm2220193 12 125434786 [T/C] NM_032656 DHX37 EXON Missense_R1042H exm1050162 12 125434988 [T/C] NM_032656 DHX37 EXON Missense_R1031Q exm1050167 12 125435085 [T/C] NM_032656 DHX37 EXON Missense_V999M exm1050201 12 125438516 [T/C] NM_032656 DHX37 EXON Missense_S869G exm1758531 12 125441261 [T/C] NM_032656 DHX37 EXON Missense_R810Q exm1050219 12 125441294 [T/C] NM_032656 DHX37 EXON Missense_Y799C exm1050222 12 125441342 [T/C] NM_032656 DHX37 EXON Missense_R783H exm1050243 12 125441677 [A/G] NM_032656 DHX37 EXON Missense_I721T exm1050245 12 125444866 [T/C] NM_032656 DHX37 EXON Missense_V717I exm1050247 12 125444911 [A/G] NM_032656 DHX37 EXON Missense_R702W exm1050253 12 125448961 [A/G] NM_032656 DHX37 EXON Missense_T675M exm1050271 12 125450234 [T/C] NM_032656 DHX37 EXON Missense_G572E exm1050274 12 125450253 [T/C] NM_032656 DHX37 EXON Missense_D566N exm1050278 12 125450318 [A/G] NM_032656 DHX37 EXON Missense_P544L exm1050280 12 125451344 [T/C] NM_032656 DHX37 EXON Missense_A529T exm1050281 12 125451346 [T/C] NM_032656 DHX37 EXON Missense_R528Q exm1050282 12 125451347 [A/G] NM_032656 DHX37 EXON Missense_R528W exm1050285 12 125451405 [T/G] NM_032656 DHX37 EXON Missense_K508N exm1050288 12 125451677 [T/C] NM_032656 DHX37 EXON Missense_R499Q exm1050291 12 125451722 [A/G] NM_032656 DHX37 EXON Missense_A484V exm1050294 12 125453089 [C/G] NM_032656 DHX37 EXON Missense_L467V exm1050298 12 125453115 [T/C] NM_032656 DHX37 EXON Missense_R458Q exm1758565 12 125453414 [T/C] NM_032656 DHX37 EXON Missense_K431R exm1758566 12 125453429 [A/G] NM_032656 DHX37 EXON Missense_P426L exm1050303 12 125453436 [T/C] NM_032656 DHX37 EXON Missense_A424T exm1050315 12 125455949 [T/G] NM_032656 DHX37 EXON Missense_L364M exm1050322 12 125457141 [T/C] NM_032656 DHX37 EXON Missense_V329I exm1050327 12 125460014 [T/C] NM_032656 DHX37 EXON Missense_A311T exm1050336 12 125461976 [T/C] NM_032656 DHX37 EXON Missense_E267K exm1050353 12 125465146 [T/C] NM_032656 DHX37 EXON Missense_V210M exm1050357 12 125465268 [A/G] NM_032656 DHX37 EXON Missense_S169L exm1050369 12 125467158 [T/C] NM_032656 DHX37 EXON Missense_M96I exm1758601 12 125470736 [A/G] NM_032656 DHX37 EXON Missense_A61V exm1050392 12 125497102 [A/G] NM_080626 BRI3BP EXON Missense_R79K exm1050394 12 125497128 [A/G] NM_080626 BRI3BP EXON Missense_V88M exm1050423 12 125550207 [A/G] NM_023928 AACS EXON Missense_N26S exm1050436 12 125561151 [A/G] NM_023928 AACS EXON Missense_I118V exm1050438 12 125570921 [A/G] NM_023928 AACS EXON Missense_R135K exm1050449 12 125587285 [A/G] NM_023928 AACS EXON Missense_V211I exm1050450 12 125587324 [T/C] NM_023928 AACS EXON Nonsense_Q224X exm1050451 12 125587566 [T/G] NM_023928 AACS EXON Missense_V236L exm1050464 12 125591796 [A/C] NM_023928 AACS EXON Nonsense_C299X exm1050469 12 125599071 [A/G] NM_023928 AACS EXON Missense_T322A exm1050492 12 125609534 [T/C] NM_023928 AACS EXON Missense_C425R exm1758666 12 125609569 [A/C] NM_023928 AACS EXON Synonymous_S436S exm1050502 12 125612806 [T/C] NM_023928 AACS EXON Missense_A470V exm1050513 12 125618593 [A/G] NM_023928 AACS EXON Missense_G532R exm1050519 12 125619360 [A/T] NM_023928 AACS EXON Missense_N547I exm1050531 12 125621364 [T/C] NM_023928 AACS EXON Missense_S612F exm1050544 12 125626720 [T/C] NM_023928 AACS EXON Missense_S655L exm2220200 12 125811171 [A/T] NM_052907 TMEM132B EXON Missense_M1K exm1050553 12 125811215 [A/G] NM_052907 TMEM132B EXON Missense_G16R exm1050554 12 125811219 [A/G] NM_052907 TMEM132B EXON Missense_G17E exm1050562 12 125834111 [A/G] NM_052907 TMEM132B EXON Missense_A56T exm1050579 12 125834676 [T/C] NM_052907 TMEM132B EXON Missense_S244L exm1050581 12 125834697 [T/A] NM_052907 TMEM132B EXON Missense_Q251L exm1050589 12 125834844 [T/C] NM_052907 TMEM132B EXON Missense_L300S exm1050598 12 125900175 [T/C] NM_052907 TMEM132B EXON Missense_T348M exm1050602 12 125900208 [T/C] NM_052907 TMEM132B EXON Missense_P359L exm1050613 12 126004130 [A/G] NM_052907 TMEM132B EXON Missense_V413I exm-rs10846934 12 126126340 [T/C] NM_052907 TMEM132B Silent exm1050636 12 126135362 [T/C] NM_052907 TMEM132B EXON Missense_Y588H exm1050637 12 126135368 [G/C] NM_052907 TMEM132B EXON Missense_L590V exm1050644 12 126135455 [A/G] NM_052907 TMEM132B EXON Missense_G619S exm1050657 12 126138222 [A/G] NM_052907 TMEM132B EXON Missense_V735M exm1050664 12 126138520 [A/G] NM_052907 TMEM132B EXON Missense_R834H exm1050671 12 126138756 [A/C] NM_052907 TMEM132B EXON Missense_L913M exm1050680 12 126139057 [A/C] NM_052907 TMEM132B EXON Missense_P1013H exm1050682 12 126139069 [T/C] NM_052907 TMEM132B EXON Missense_S1017L exm2267403 12 126171662 [A/G] exm2267476 12 126284098 [A/G] exm2267404 12 126400151 [A/G] exm2271809 12 126940768 [T/C] NR_015398 LOC100128554 Silent exm2267477 12 127013007 [A/G] exm2271810 12 127284785 [T/C] exm-rs7138792 12 127484300 [T/C] exm-rs1823172 12 127792614 [T/C] exm2250681 12 127918882 [A/C] exm2267478 12 128209061 [A/G] exm2271811 12 128579558 [T/C] exm2259984 12 128814339 [T/C] NM_001136103 TMEM132C Silent exm1050700 12 128899673 [A/G] NM_001136103 TMEM132C EXON Missense_H161R exm1050704 12 128899748 [A/G] NM_001136103 TMEM132C EXON Missense_R186Q exm1050705 12 128899853 [T/C] NM_001136103 TMEM132C EXON Missense_P221L exm1050706 12 128899885 [A/G] NM_001136103 TMEM132C EXON Missense_V232M exm1050710 12 128900005 [A/G] NM_001136103 TMEM132C EXON Missense_V272I exm1050711 12 128900032 [A/G] NM_001136103 TMEM132C EXON Missense_A281T exm1050721 12 129028624 [A/G] NM_001136103 TMEM132C EXON Missense_R366H exm-rs7296262 12 129095072 [T/C] NM_001136103 TMEM132C Silent exm1050726 12 129100757 [G/C] NM_001136103 TMEM132C EXON Missense_S394R exm1050727 12 129100780 [T/C] NM_001136103 TMEM132C EXON Missense_T402M exm1050732 12 129153986 [A/G] NM_001136103 TMEM132C EXON Missense_V444I exm1050734 12 129154041 [A/G] NM_001136103 TMEM132C EXON Missense_N462S exm1050742 12 129178435 [T/C] NM_001136103 TMEM132C EXON Missense_A504V exm1050747 12 129178533 [A/C] NM_001136103 TMEM132C EXON Missense_L537I exm2250683 12 129181825 [T/C] NM_001136103 TMEM132C EXON Synonymous_D662D exm1050760 12 129181946 [T/C] NM_001136103 TMEM132C EXON Missense_R703W exm1050763 12 129189698 [A/G] NM_001136103 TMEM132C EXON Missense_D729N exm1050765 12 129189702 [C/G] NM_001136103 TMEM132C EXON Missense_T730S exm1050775 12 129189941 [A/G] NM_001136103 TMEM132C EXON Missense_G810R exm1050781 12 129190266 [A/G] NM_001136103 TMEM132C EXON Missense_R918Q exm1050796 12 129190691 [A/T] NM_001136103 TMEM132C EXON Missense_T1060S exm1050803 12 129278745 [A/G] NM_145648 SLC15A4 EXON Missense_A577V exm2271812 12 129288534 [T/C] NM_145648 SLC15A4 Silent exm1050829 12 129293372 [C/G] NM_145648 SLC15A4 EXON Missense_V407L exm1050840 12 129299326 [A/C] NM_145648 SLC15A4 EXON Missense_S279I exm1050843 12 129299333 [A/G] NM_145648 SLC15A4 EXON Missense_R277C exm1050848 12 129299435 [T/C] NM_145648 SLC15A4 EXON Missense_G243S exm1050849 12 129299446 [A/G] NM_145648 SLC15A4 EXON Missense_V239A exm1050854 12 129299504 [T/C] NM_145648 SLC15A4 EXON Missense_V220I exm1050860 12 129299599 [A/G] NM_145648 SLC15A4 EXON Missense_P188L exm-rs1385374 12 129300694 [T/C] NM_145648 SLC15A4 Silent exm1050889 12 129360484 [A/G] NM_144669 GLT1D1 EXON Missense_V32M exm1050890 12 129360490 [A/G] NM_144669 GLT1D1 EXON Missense_V34I exm1050892 12 129360518 [A/G] NM_144669 GLT1D1 EXON Missense_S43N exm1050893 12 129360520 [T/C] NM_144669 GLT1D1 EXON Nonsense_R44X exm1758906 12 129360559 [A/G] NM_144669 GLT1D1 EXON Missense_E57K exm1050903 12 129373247 [T/C] NM_144669 GLT1D1 EXON Missense_A94V exm1050957 12 129558566 [T/C] NM_133448 TMEM132D EXON Missense_A1052T exm1050963 12 129558772 [A/G] NM_133448 TMEM132D EXON Missense_S983L exm1050974 12 129559063 [T/G] NM_133448 TMEM132D EXON Missense_T886N exm1050976 12 129559086 [A/C] NM_133448 TMEM132D EXON Missense_L878F exm1050982 12 129559175 [A/G] NM_133448 TMEM132D EXON Missense_L849F exm1050984 12 129559228 [A/G] NM_133448 TMEM132D EXON Missense_S831L exm1050985 12 129559231 [A/G] NM_133448 TMEM132D EXON Missense_P830L exm1050988 12 129559318 [T/C] NM_133448 TMEM132D EXON Missense_D801G exm1050990 12 129559421 [T/C] NM_133448 TMEM132D EXON Missense_V767I exm1050993 12 129559495 [A/C] NM_133448 TMEM132D EXON Missense_V742G exm1051018 12 129566566 [T/C] NM_133448 TMEM132D EXON Missense_D554G exm1051019 12 129566570 [T/C] NM_133448 TMEM132D EXON Missense_G553R exm2274638 12 129569089 [A/C] NM_133448 TMEM132D EXON Missense_E534D exm1051025 12 129569130 [A/C] NM_133448 TMEM132D EXON Missense_V521L exm2267479 12 129583883 [A/G] NM_133448 TMEM132D Silent exm2250685 12 129683938 [T/C] NM_133448 TMEM132D Silent exm-rs11060202 12 129693530 [T/C] NM_133448 TMEM132D Silent exm1051048 12 130015620 [G/C] NM_133448 TMEM132D EXON Missense_A367P exm1051049 12 130015635 [A/C] NM_133448 TMEM132D EXON Missense_C362G exm1051051 12 130015673 [A/G] NM_133448 TMEM132D EXON Missense_T349M exm1051052 12 130015676 [T/C] NM_133448 TMEM132D EXON Missense_R348H exm2271814 12 130056480 [T/G] NM_133448 TMEM132D Silent exm1051058 12 130184414 [T/G] NM_133448 TMEM132D EXON Missense_D303E exm1051084 12 130184839 [T/C] NM_133448 TMEM132D EXON Missense_G162R exm1759052 12 130184920 [A/G] NM_133448 TMEM132D EXON Missense_R135W exm1051094 12 130185048 [A/G] NM_133448 TMEM132D EXON Missense_V92A exm2250686 12 130185152 [A/G] NM_133448 TMEM132D EXON Synonymous_D57D exm2220219 12 130185168 [T/C] NM_133448 TMEM132D EXON Missense_H52R exm1051105 12 130387850 [A/T] NM_133448 TMEM132D EXON Missense_H12L exm1051107 12 130387877 [A/G] NM_133448 TMEM132D EXON Missense_P3L exm2271881 12 130417800 [T/C] exm1759092 12 130647563 [A/C] NM_007197 FZD10 EXON Missense_M26L exm2276278 12 130648380 [A/C] NM_007197 FZD10 EXON Missense_Y298S exm1759103 12 130649160 [A/G] NM_007197 FZD10 EXON Missense_K558R exm2271815 12 130661220 [T/C] exm1051188 12 130827214 [T/C] NM_001190971,NM_004764 PIWIL1,PIWIL1 EXON Synonymous_A26A,Synonymous_A26A exm1051190 12 130827550 [T/G] NM_001190971,NM_004764 PIWIL1,PIWIL1 EXON Missense_Y32D,Missense_Y32D exm1051193 12 130827611 [A/C] NM_001190971,NM_004764 PIWIL1,PIWIL1 EXON Missense_Q52P,Missense_Q52P exm1759143 12 130839145 [T/C] NM_001190971,NM_004764 PIWIL1,PIWIL1 EXON Missense_R370W,Missense_R370W exm1051228 12 130839516 [T/C] NM_001190971,NM_004764 PIWIL1,PIWIL1 EXON Missense_R419C,Missense_R419C exm1051234 12 130840211 [T/C] NM_001190971,NM_004764 PIWIL1,PIWIL1 EXON Missense_T468I,Missense_T468I exm1051245 12 130841638 [A/G] NM_001190971,NM_004764 PIWIL1,PIWIL1 EXON Missense_R527K,Missense_R527K exm2264503 12 130845202 [A/C] NM_001190971,NM_004764 PIWIL1,PIWIL1 Silent,Silent exm1051255 12 130846061 [A/G] NM_001190971,NM_004764 PIWIL1,PIWIL1 EXON Missense_V629I,Missense_V629I exm1051260 12 130846146 [A/G] NM_001190971,NM_004764 PIWIL1,PIWIL1 EXON Missense_R657H,Missense_R657H exm1051271 12 130847683 [T/G] NM_001190971,NM_004764 PIWIL1,PIWIL1 EXON Missense_G730V,Missense_G730V exm1051273 12 130851689 [T/C] NM_001190971,NM_004764 PIWIL1,PIWIL1 EXON Missense_T736M,Missense_T736M exm2220224 12 130884343 [T/G] NM_015347 RIMBP2 EXON Missense_Q1005K exm1051295 12 130892273 [T/C] NM_015347 RIMBP2 EXON Missense_E975K exm1051306 12 130892350 [T/C] NM_015347 RIMBP2 EXON Missense_R949H exm1051313 12 130897280 [T/C] NM_015347 RIMBP2 EXON Missense_R902Q exm1051317 12 130897307 [C/G] NM_015347 RIMBP2 EXON Missense_G893A exm1051319 12 130897323 [T/C] NM_015347 RIMBP2 EXON Missense_D888N exm1051335 12 130898850 [A/G] NM_015347 RIMBP2 EXON Synonymous_D824D exm1051339 12 130907048 [T/C] NM_015347 RIMBP2 EXON Missense_R807H exm1051341 12 130907078 [T/C] NM_015347 RIMBP2 EXON Missense_R797Q exm1051342 12 130907079 [A/G] NM_015347 RIMBP2 EXON Missense_R797W exm1051357 12 130919410 [T/C] NM_015347 RIMBP2 EXON Missense_V691I exm1051374 12 130921539 [T/G] NM_015347 RIMBP2 EXON Missense_H635N exm1051376 12 130921617 [T/C] NM_015347 RIMBP2 EXON Missense_E609K exm2220227 12 130921664 [C/G] NM_015347 RIMBP2 EXON Missense_P593R exm1051384 12 130921701 [T/C] NM_015347 RIMBP2 EXON Missense_V581I exm1051393 12 130922956 [T/C] NM_015347 RIMBP2 EXON Missense_N520S exm1051394 12 130923011 [T/C] NM_015347 RIMBP2 EXON Missense_A502T exm1051396 12 130923016 [T/G] NM_015347 RIMBP2 EXON Missense_T500N exm1051422 12 130926818 [T/A] NM_015347 RIMBP2 EXON Missense_N343I exm1051423 12 130926822 [T/C] NM_015347 RIMBP2 EXON Missense_M342V exm1759218 12 130926892 [G/C] NM_015347 RIMBP2 EXON Missense_E318D exm1051437 12 130926960 [T/C] NM_015347 RIMBP2 EXON Missense_I296V exm1051441 12 130926987 [T/C] NM_015347 RIMBP2 EXON Missense_V287M exm1051445 12 130927022 [A/G] NM_015347 RIMBP2 EXON Missense_A275V exm1051466 12 130934799 [T/C] NM_015347 RIMBP2 EXON Missense_N159S exm1051490 12 130941143 [T/C] NM_015347 RIMBP2 EXON Missense_D69N exm2267405 12 131225471 [A/G] exm1051541 12 131276464 [A/G] NM_194356,NM_001980 STX2,STX2 EXON Silent,Missense_L282P exm1051542 12 131276474 [T/C] NM_194356,NM_001980 STX2,STX2 EXON Silent,Missense_G279R exm1051547 12 131280629 [T/C] NM_194356,NM_001980 STX2,STX2 EXON Missense_V275I,Silent exm1051559 12 131285798 [T/C] NM_194356,NM_001980 STX2,STX2 EXON Missense_N192S,Missense_N192S exm1051571 12 131291631 [A/G] NM_194356,NM_001980 STX2,STX2 EXON Missense_S120L,Missense_S120L exm1051573 12 131293183 [A/C] NM_194356,NM_001980 STX2,STX2 EXON Missense_R116I,Missense_R116I exm1051574 12 131293210 [T/C] NM_194356,NM_001980 STX2,STX2 EXON Missense_R107Q,Missense_R107Q exm1051577 12 131297528 [T/G] NM_194356,NM_001980 STX2,STX2 EXON Missense_A85E,Missense_A85E exm1051578 12 131297541 [T/C] NM_194356,NM_001980 STX2,STX2 EXON Missense_I81V,Missense_I81V exm1051584 12 131306278 [T/C] NM_194356,NM_001980 STX2,STX2 EXON Missense_K54R,Missense_K54R exm1051586 12 131306314 [C/G] NM_194356,NM_001980 STX2,STX2 EXON Missense_S42T,Missense_S42T exm1051588 12 131311749 [A/C] NM_194356,NM_001980 STX2,STX2 EXON Missense_F32V,Missense_F32V exm2250693 12 131311786 [T/C] NM_194356,NM_001980 STX2,STX2 EXON Synonymous_T19T,Synonymous_T19T exm1051599 12 131357464 [A/G] NM_006325 RAN EXON Synonymous_V40V exm1051604 12 131359092 [G/C] NM_006325 RAN EXON Synonymous_A83A exm-rs7299940 12 131390754 [C/G] exm1051620 12 131439063 [A/G] NM_198827 GPR133 EXON Missense_Y18C exm1051638 12 131456080 [T/G] NM_198827 GPR133 EXON Missense_Y89D exm2250694 12 131466490 [A/G] NM_198827 GPR133 EXON Synonymous_A124A exm1051661 12 131471699 [A/G] NM_198827 GPR133 EXON Missense_V184I exm1051664 12 131471744 [T/C] NM_198827 GPR133 EXON Missense_R199C exm1051668 12 131471774 [A/G] NM_198827 GPR133 EXON Missense_V209M exm1051673 12 131471883 [T/C] NM_198827 GPR133 EXON Missense_T245I exm1051681 12 131475607 [A/C] NM_198827 GPR133 EXON Missense_S265Y exm1051693 12 131476925 [G/C] NM_198827 GPR133 EXON Missense_L318F exm1051712 12 131487794 [A/G] NM_198827 GPR133 EXON Missense_N364S exm1051714 12 131487809 [T/C] NM_198827 GPR133 EXON Missense_T369M exm1051724 12 131488823 [A/G] NM_198827 GPR133 EXON Missense_E413K exm1051730 12 131498761 [A/G] NM_198827 GPR133 EXON Missense_H450R exm1051731 12 131498769 [A/G] NM_198827 GPR133 EXON Missense_D453N exm1051734 12 131498784 [A/G] NM_198827 GPR133 EXON Missense_A458T exm1051735 12 131498802 [T/G] NM_198827 GPR133 EXON Missense_S464A exm1051737 12 131498839 [A/G] NM_198827 GPR133 EXON Missense_N476S exm1051738 12 131498863 [T/C] NM_198827 GPR133 EXON Missense_T484M exm-rs3847687 12 131525053 [T/C] NM_198827 GPR133 Silent exm1759368 12 131561365 [A/G] NM_198827 GPR133 EXON Missense_E498G exm1051747 12 131561394 [A/G] NM_198827 GPR133 EXON Missense_V508M exm1051751 12 131569105 [T/C] NM_198827 GPR133 EXON Missense_S523L exm1051757 12 131569150 [T/C] NM_198827 GPR133 EXON Missense_V538A exm1051758 12 131569155 [T/C] NM_198827 GPR133 EXON Missense_R540C exm-rs1569019 12 131576191 [A/C] NM_198827 GPR133 Silent exm1051765 12 131589469 [A/G] NM_198827 GPR133 EXON Missense_A589T exm2250695 12 131590302 [T/C] NM_198827 GPR133 EXON Synonymous_S593S exm1051773 12 131590393 [T/C] NM_198827 GPR133 EXON Missense_R624C exm-rs11061330 12 131594563 [T/C] NM_198827 GPR133 Silent exm1051787 12 131602972 [T/C] NM_198827 GPR133 EXON Missense_M695T exm1051789 12 131602983 [A/G] NM_198827 GPR133 EXON Missense_G699R exm1051796 12 131616321 [A/G] NM_198827 GPR133 EXON Missense_A743T exm1051804 12 131620643 [A/G] NM_198827 GPR133 EXON Missense_V777M exm1051805 12 131620650 [T/C] NM_198827 GPR133 EXON Missense_A779V exm-rs885389 12 131621762 [A/G] NM_198827 GPR133 Silent exm1051815 12 131622736 [A/G] NM_198827 GPR133 EXON Missense_A831T exm1051817 12 131622750 [T/C] NM_198827 GPR133 EXON Synonymous_N835N exm2250696 12 131622750 [T/C] NM_198827 GPR133 EXON Synonymous_N835N exm1051818 12 131622751 [A/G] NM_198827 GPR133 EXON Missense_A836T exm1051821 12 131623735 [T/C] NM_198827 GPR133 EXON Missense_M851T exm1051823 12 131623786 [A/G] NM_198827 GPR133 EXON Missense_R868H exm1051827 12 131623803 [A/G] NM_198827 GPR133 EXON Missense_V874M exm-rs7965445 12 131862903 [A/G] exm-rs10466868 12 131939920 [T/G] exm2267480 12 131976552 [A/G] exm2250698 12 132083293 [A/G] exm-rs7315621 12 132085196 [A/G] exm1051883 12 132199423 [A/G] NM_001261411,NM_004592 SFSWAP,SFSWAP EXON Missense_V149M,Missense_V149M exm1051891 12 132204043 [A/G] NM_001261411,NM_004592 SFSWAP,SFSWAP EXON Missense_V189I,Missense_V189I exm1051911 12 132212925 [A/G] NM_001261411,NM_004592 SFSWAP,SFSWAP EXON Missense_A345T,Missense_A345T exm1051912 12 132212935 [T/C] NM_001261411,NM_004592 SFSWAP,SFSWAP EXON Missense_A348V,Missense_A348V exm1051913 12 132212950 [T/C] NM_001261411,NM_004592 SFSWAP,SFSWAP EXON Missense_S353F,Missense_S353F exm1051933 12 132237796 [A/G] NM_001261411,NM_004592 SFSWAP,SFSWAP EXON Missense_N404D,Missense_N404D exm1051935 12 132237848 [T/C] NM_001261411,NM_004592 SFSWAP,SFSWAP EXON Missense_L421P,Missense_L421P exm1051939 12 132237880 [A/G] NM_001261411,NM_004592 SFSWAP,SFSWAP EXON Missense_G432R,Missense_G432R exm1051944 12 132238932 [A/G] NM_001261411,NM_004592 SFSWAP,SFSWAP EXON Missense_A448T,Missense_A448T exm1051953 12 132238953 [A/G] NM_001261411,NM_004592 SFSWAP,SFSWAP EXON Missense_D455N,Missense_D455N exm1051954 12 132238956 [A/G] NM_001261411,NM_004592 SFSWAP,SFSWAP EXON Missense_V456I,Missense_V456I exm1759483 12 132238992 [A/G] NM_001261411,NM_004592 SFSWAP,SFSWAP EXON Missense_A468T,Missense_A468T exm1051962 12 132240010 [A/G] NM_001261411,NM_004592 SFSWAP,SFSWAP EXON Missense_G512S,Missense_G512S exm1051968 12 132241082 [A/G] NM_001261411,NM_004592 SFSWAP,SFSWAP EXON Missense_E538G,Missense_E538G exm1051973 12 132241120 [T/C] NM_001261411,NM_004592 SFSWAP,SFSWAP EXON Missense_R551W,Missense_R551W exm1051977 12 132241156 [A/G] NM_001261411,NM_004592 SFSWAP,SFSWAP EXON Missense_S563G,Missense_S563G exm1051978 12 132241162 [A/G] NM_001261411,NM_004592 SFSWAP,SFSWAP EXON Missense_T565A,Missense_T565A exm2250699 12 132241173 [T/C] NM_001261411,NM_004592 SFSWAP,SFSWAP EXON Synonymous_D568D,Synonymous_D568D exm1051999 12 132262623 [T/C] NM_001261411,NM_004592 SFSWAP,SFSWAP EXON Missense_T719M,Missense_T719M exm1052003 12 132262713 [T/C] NM_001261411,NM_004592 SFSWAP,SFSWAP EXON Missense_P749L,Missense_P749L exm1052006 12 132262793 [T/C] NM_001261411,NM_004592 SFSWAP,SFSWAP EXON Missense_S776P,Missense_S776P exm1052019 12 132271121 [A/G] NM_001261411,NM_004592 SFSWAP,SFSWAP EXON Missense_R893Q,Missense_R841Q exm1052021 12 132271127 [A/G] NM_001261411,NM_004592 SFSWAP,SFSWAP EXON Missense_R895H,Missense_R843H exm2276280 12 132281899 [A/G] NM_001261411,NM_004592 SFSWAP,SFSWAP EXON Missense_R956H,Missense_R904H exm1052033 12 132283582 [T/G] NM_001261411,NM_004592 SFSWAP,SFSWAP EXON Missense_R958S,Missense_R906S exm1759516 12 132283586 [A/G] NM_001261411,NM_004592 SFSWAP,SFSWAP EXON Missense_V960I,Missense_V908I exm1052049 12 132322801 [A/C] NM_016155 MMP17 EXON Missense_T74K exm1052050 12 132322812 [A/C] NM_016155 MMP17 EXON Missense_L78M exm1052057 12 132323249 [A/G] NM_016155 MMP17 EXON Missense_A129T exm1052058 12 132323250 [C/G] NM_016155 MMP17 EXON Missense_A129G exm1052061 12 132325122 [T/C] NM_016155 MMP17 EXON Missense_R143W exm1052063 12 132325135 [A/G] NM_016155 MMP17 EXON Missense_R147Q exm1052066 12 132325155 [A/G] NM_016155 MMP17 EXON Missense_D154N exm1052069 12 132325204 [T/G] NM_016155 MMP17 EXON Missense_I170S exm1052074 12 132325239 [A/G] NM_016155 MMP17 EXON Missense_A182T exm1052101 12 132326297 [T/C] NM_016155 MMP17 EXON Missense_R279C exm1052102 12 132326298 [A/G] NM_016155 MMP17 EXON Missense_R279H exm1052106 12 132328566 [T/C] NM_016155 MMP17 EXON Missense_T303M exm1052140 12 132334379 [A/G] NM_016155 MMP17 EXON Missense_V413I exm1052142 12 132334403 [A/G] NM_016155 MMP17 EXON Missense_V421I exm1052144 12 132334430 [A/G] NM_016155 MMP17 EXON Missense_G430S exm1052147 12 132334460 [A/G] NM_016155 MMP17 EXON Missense_N440D exm1052168 12 132335572 [T/G] NM_016155 MMP17 EXON Missense_V522G exm1052171 12 132335592 [A/G] NM_016155 MMP17 EXON Missense_D529N exm1052172 12 132335602 [T/C] NM_016155 MMP17 EXON Missense_V532A exm1052176 12 132335664 [T/C] NM_016155 MMP17 EXON Missense_R553C exm1052179 12 132335685 [A/G] NM_016155 MMP17 EXON Missense_V560I exm2250700 12 132393686 [A/C] NM_003565 ULK1 EXON Synonymous_P190P exm1052226 12 132394378 [T/C] NM_003565 ULK1 EXON Missense_T242I exm2250701 12 132395279 [A/G] NM_003565 ULK1 EXON Synonymous_S294S exm1759615 12 132396526 [T/G] NM_003565 ULK1 EXON Missense_S330A exm1052250 12 132396623 [T/C] NM_003565 ULK1 EXON Missense_A362V exm1052255 12 132398312 [T/C] NM_003565 ULK1 EXON Missense_A393V exm1052262 12 132398901 [A/G] NM_003565 ULK1 EXON Missense_A418T exm1052271 12 132399004 [C/G] NM_003565 ULK1 EXON Missense_T452S exm1052277 12 132399750 [A/G] NM_003565 ULK1 EXON Missense_G499D exm1052281 12 132399898 [A/G] NM_003565 ULK1 EXON Missense_R514Q exm1052302 12 132400624 [T/C] NM_003565 ULK1 EXON Missense_R600W exm1052308 12 132400965 [T/C] NM_003565 ULK1 EXON Missense_P634L exm1052315 12 132401039 [T/C] NM_003565 ULK1 EXON Missense_R659W exm2220246 12 132401054 [G/C] NM_003565 ULK1 EXON Missense_L664V exm1052321 12 132401058 [T/C] NM_003565 ULK1 EXON Missense_S665L exm1052323 12 132401085 [T/C] NM_003565 ULK1 EXON Missense_P674L exm1052326 12 132401102 [T/C] NM_003565 ULK1 EXON Missense_R680W exm1052332 12 132401542 [T/C] NM_003565 ULK1 EXON Missense_A706V exm1052333 12 132401557 [T/C] NM_003565 ULK1 EXON Missense_A711V exm1052334 12 132401560 [T/C] NM_003565 ULK1 EXON Missense_P712L exm1052336 12 132401566 [T/C] NM_003565 ULK1 EXON Missense_P714L exm1052337 12 132401575 [T/C] NM_003565 ULK1 EXON Missense_T717M exm1052338 12 132401606 [T/C] NM_003565 ULK1 EXON Synonymous_I727I exm1052345 12 132402007 [T/G] NM_003565 ULK1 EXON Missense_G745V exm1052366 12 132403161 [A/G] NM_003565 ULK1 EXON Missense_T816A exm1052370 12 132403794 [T/C] NM_003565 ULK1 EXON Missense_T850M exm1052400 12 132404616 [A/C] NM_003565 ULK1 EXON Synonymous_R966R exm1052405 12 132405748 [T/C] NM_003565 ULK1 EXON Missense_S1022L exm1052408 12 132405765 [A/G] NM_003565 ULK1 EXON Missense_E1028K exm1052433 12 132416781 [A/G] NM_001002020,NM_001002019,NM_025215 PUS1,PUS1,PUS1 EXON Missense_R94Q,Missense_R94Q,Missense_R122Q exm1052434 12 132416813 [A/G] NM_001002020,NM_001002019,NM_025215 PUS1,PUS1,PUS1 EXON Missense_D105N,Missense_D105N,Missense_D133N exm1052450 12 132425971 [A/G] NM_001002020,NM_001002019,NM_025215 PUS1,PUS1,PUS1 EXON Missense_E199K,Missense_E199K,Missense_E227K exm1052463 12 132426218 [T/C] NM_001002020,NM_001002019,NM_025215 PUS1,PUS1,PUS1 EXON Missense_A281V,Missense_A281V,Missense_A309V exm1052464 12 132426220 [T/C] NM_001002020,NM_001002019,NM_025215 PUS1,PUS1,PUS1 EXON Missense_P282S,Missense_P282S,Missense_P310S exm1052466 12 132426229 [A/G] NM_001002020,NM_001002019,NM_025215 PUS1,PUS1,PUS1 EXON Missense_V285M,Missense_V285M,Missense_V313M exm1052481 12 132426368 [T/C] NM_001002020,NM_001002019,NM_025215 PUS1,PUS1,PUS1 EXON Missense_A331V,Missense_A331V,Missense_A359V exm1052492 12 132426506 [T/C] NM_001002020,NM_001002019,NM_025215 PUS1,PUS1,PUS1 EXON Missense_T377M,Missense_T377M,Missense_T405M exm1052515 12 132445421 [A/G] NM_015409 EP400 EXON Missense_N86S exm1052551 12 132446437 [A/G] NM_015409 EP400 EXON Missense_I425V exm1052558 12 132464251 [T/G] NM_015409 EP400 EXON Missense_A450S exm1052573 12 132466108 [A/G] NM_015409 EP400 EXON Missense_V504I exm1052574 12 132466135 [A/G] NM_015409 EP400 EXON Missense_A513T exm1052586 12 132466815 [T/C] NM_015409 EP400 EXON Missense_A574V exm1052587 12 132466835 [A/C] NM_015409 EP400 EXON Missense_P581T exm1052588 12 132466836 [T/C] NM_015409 EP400 EXON Missense_P581L exm1052591 12 132466874 [A/G] NM_015409 EP400 EXON Missense_V594M exm1052598 12 132466997 [C/G] NM_015409 EP400 EXON Missense_A635P exm1052601 12 132471105 [T/C] NM_015409 EP400 EXON Missense_P659L exm1052610 12 132471330 [T/C] NM_015409 EP400 EXON Missense_T734M exm1759768 12 132472268 [T/C] NM_015409 EP400 EXON Missense_R748C exm1759769 12 132472271 [A/G] NM_015409 EP400 EXON Missense_I749V exm1052622 12 132474593 [T/C] NM_015409 EP400 EXON Missense_R832W exm1052631 12 132475960 [T/G] NM_015409 EP400 EXON Missense_L880V exm1759789 12 132490725 [T/A] NM_015409 EP400 EXON Missense_M1002L exm1052651 12 132490762 [A/G] NM_015409 EP400 EXON Missense_G1014E exm2250703 12 132490820 [A/G] NM_015409 EP400 EXON Synonymous_P1033P exm1052670 12 132496166 [A/G] NM_015409 EP400 EXON Missense_K1143R exm1052672 12 132497581 [A/G] NM_015409 EP400 EXON Missense_V1157I exm1052677 12 132498058 [A/G] NM_015409 EP400 EXON Missense_D1212G exm1052682 12 132498385 [T/C] NM_015409 EP400 EXON Missense_Y1284H exm1052705 12 132502807 [A/G] NM_015409 EP400 EXON Missense_R1388H exm1052709 12 132502845 [T/C] NM_015409 EP400 EXON Missense_R1401W exm2264504 12 132505406 [A/C] NM_015409 EP400 Silent exm1052747 12 132510275 [T/C] NM_015409 EP400 EXON Missense_A1647V exm1052749 12 132510280 [A/G] NM_015409 EP400 EXON Missense_A1649T exm1052751 12 132510311 [T/C] NM_015409 EP400 EXON Missense_P1659L exm1052755 12 132511987 [A/G] NM_015409 EP400 EXON Missense_V1674I exm1052769 12 132512663 [G/C] NM_015409 EP400 EXON Missense_R1737S exm1052770 12 132512690 [T/G] NM_015409 EP400 EXON Missense_R1746S exm1052773 12 132512739 [T/C] NM_015409 EP400 EXON Missense_P1763S exm1052777 12 132512776 [T/G] NM_015409 EP400 EXON Missense_S1775I exm1052793 12 132514361 [A/G] NM_015409 EP400 EXON Missense_A1833T exm1052799 12 132514434 [T/G] NM_015409 EP400 EXON Missense_V1857G exm1052806 12 132514698 [T/C] NM_015409 EP400 EXON Missense_R1917W exm1052823 12 132522531 [T/C] NM_015409 EP400 EXON Missense_P2033S exm1052827 12 132522601 [T/C] NM_015409 EP400 EXON Missense_T2056M exm1052832 12 132527903 [C/G] NM_015409 EP400 EXON Missense_G2088R exm1052842 12 132528756 [T/C] NM_015409 EP400 EXON Missense_F2162S exm1052850 12 132529238 [A/G] NM_015409 EP400 EXON Missense_D2203G exm1052856 12 132529393 [A/G] NM_015409 EP400 EXON Missense_D2227N exm1052879 12 132534890 [A/G] NM_015409 EP400 EXON Missense_R2408H exm2220257 12 132534893 [T/C] NM_015409 EP400 EXON Missense_T2409M exm1052898 12 132538096 [T/C] NM_015409 EP400 EXON Missense_A2561V exm1052900 12 132538102 [T/C] NM_015409 EP400 EXON Missense_A2563V exm1052911 12 132539719 [A/G] NM_015409 EP400 EXON Missense_R2617H exm1052920 12 132546731 [T/C] NM_015409 EP400 EXON Missense_A2654V exm1052926 12 132546853 [T/C] NM_015409 EP400 EXON Missense_P2695S exm1052930 12 132547068 [A/G] NM_015409 EP400 EXON Missense_R2719K exm2220258 12 132547166 [A/G] NM_015409 EP400 EXON Missense_T2752A exm1052962 12 132549264 [T/C] NM_015409 EP400 EXON Missense_P2796S exm1052970 12 132549300 [A/G] NM_015409 EP400 EXON Missense_T2808A exm1052972 12 132549307 [A/C] NM_015409 EP400 EXON Missense_Q2810P exm1052982 12 132549405 [A/G] NM_015409 EP400 EXON Missense_V2843M exm1053013 12 132561100 [A/G] NM_015409 EP400 EXON Missense_V3021M exm2250705 12 132561972 [A/G] NM_015409 EP400 EXON Synonymous_T3042T exm1053019 12 132561983 [T/C] NM_015409 EP400 EXON Missense_A3046V exm1053029 12 132562126 [A/G] NM_015409 EP400 EXON Missense_A3094T exm1053076 12 132624220 [T/C] NM_175066 DDX51 EXON Missense_R645Q exm1053077 12 132624224 [A/G] NM_175066 DDX51 EXON Missense_P644S exm1053079 12 132624232 [A/G] NM_175066 DDX51 EXON Missense_P641L exm1053082 12 132624262 [T/C] NM_175066 DDX51 EXON Missense_R631Q exm1053083 12 132624263 [A/G] NM_175066 DDX51 EXON Missense_R631W exm1053084 12 132624274 [A/G] NM_175066 DDX51 EXON Missense_P627L exm1053087 12 132624310 [T/C] NM_175066 DDX51 EXON Missense_R615K exm1053092 12 132624434 [T/C] NM_175066 DDX51 EXON Missense_Q604R exm1053101 12 132624695 [C/G] NM_175066 DDX51 EXON Missense_E575Q exm1053103 12 132624701 [T/C] NM_175066 DDX51 EXON Missense_G573S exm1053123 12 132625273 [T/C] NM_175066 DDX51 EXON Missense_Y483C exm1053124 12 132625277 [A/G] NM_175066 DDX51 EXON Missense_H482Y exm1053146 12 132625860 [C/G] NM_175066 DDX51 EXON Missense_L404V exm1053147 12 132625863 [A/C] NM_175066 DDX51 EXON Missense_A403S exm1053155 12 132625946 [T/C] NM_175066 DDX51 EXON Missense_R375Q exm1053165 12 132626138 [G/C] NM_175066 DDX51 EXON Missense_R337G exm1053168 12 132626395 [A/G] NM_175066 DDX51 EXON Missense_T332I exm1053169 12 132626425 [A/G] NM_175066 DDX51 EXON Missense_A322V exm1053172 12 132626452 [A/G] NM_175066 DDX51 EXON Missense_S313F exm1053173 12 132626464 [A/G] NM_175066 DDX51 EXON Missense_P309L exm1053175 12 132626497 [T/C] NM_175066 DDX51 EXON Missense_S298N exm1053176 12 132626668 [T/C] NM_175066 DDX51 EXON Missense_Q295R exm1053177 12 132626669 [A/G] NM_175066 DDX51 EXON Nonsense_Q295X exm1759966 12 132626859 [T/C] NM_175066 DDX51 EXON Missense_S260N exm1053183 12 132626895 [T/C] NM_175066 DDX51 EXON Missense_R248Q exm1053189 12 132627294 [T/C] NM_175066 DDX51 EXON Missense_G217S exm1053192 12 132627365 [A/G] NM_175066 DDX51 EXON Missense_T193I exm1053198 12 132628281 [T/C] NM_175066 DDX51 EXON Missense_G160S exm1053212 12 132629445 [A/G] NM_024078 NOC4L EXON Missense_R55H exm1053213 12 132629453 [A/G] NM_024078 NOC4L EXON Missense_G58R exm1053228 12 132631923 [A/G] NM_024078 NOC4L EXON Missense_E148G exm1053231 12 132632233 [A/G] NM_024078 NOC4L EXON Missense_Q170R exm1053235 12 132632292 [A/G] NM_024078 NOC4L EXON Missense_D190N exm1053242 12 132632482 [T/C] NM_024078 NOC4L EXON Missense_R221C exm1759993 12 132632485 [T/C] NM_024078 NOC4L EXON Missense_R222W exm1053243 12 132632495 [C/G] NM_024078 NOC4L EXON Missense_T225S exm1053247 12 132632512 [A/G] NM_024078 NOC4L EXON Missense_V231M exm1053262 12 132633383 [T/C] NM_024078 NOC4L EXON Missense_P282S exm1760001 12 132633393 [T/C] NM_024078 NOC4L EXON Missense_A285V exm1053272 12 132633439 [T/C] NM_024078 NOC4L EXON Synonymous_L300L exm1053290 12 132635871 [A/G] NM_024078 NOC4L EXON Missense_R344H exm1053291 12 132635873 [A/G] NM_024078 NOC4L EXON Missense_A345T exm1053292 12 132635877 [A/G] NM_024078 NOC4L EXON Missense_R346H exm1053307 12 132636142 [A/G] NM_024078 NOC4L EXON Missense_R396H exm1053308 12 132636145 [A/G] NM_024078 NOC4L EXON Missense_R397Q exm1053311 12 132636175 [A/G] NM_024078 NOC4L EXON Missense_R407H exm1053313 12 132636291 [A/G] NM_024078 NOC4L EXON Missense_A415T exm1053326 12 132636729 [T/C] NM_024078 NOC4L EXON Missense_L473P exm1053328 12 132636836 [T/C] NM_024078 NOC4L EXON Missense_R481W exm1053335 12 132636909 [T/C] NM_024078 NOC4L EXON Missense_P505L exm1053343 12 132681748 [T/C] NM_001122636,NM_021808 GALNT9,GALNT9 EXON Missense_M572I,Missense_M206I exm2250707 12 132682370 [T/C] NM_001122636,NM_021808 GALNT9,GALNT9 EXON Synonymous_A544A,Synonymous_A178A exm1053356 12 132682449 [A/G] NM_001122636,NM_021808 GALNT9,GALNT9 EXON Missense_A518V,Missense_A152V exm1053389 12 132688050 [T/C] NM_001122636,NM_021808 GALNT9,GALNT9 EXON Synonymous_S421S,Synonymous_S55S exm1053393 12 132688115 [T/C] NM_001122636,NM_021808 GALNT9,GALNT9 EXON Missense_A400T,Missense_A34T exm2267408 12 132692165 [A/G] NM_001122636 GALNT9 Silent exm1053453 12 132863015 [C/G] NM_001122636 GALNT9 EXON Synonymous_G80G exm-rs10747083 12 133041618 [A/G] exm-rs12423664 12 133069894 [A/G] NM_001142641 FBRSL1 Silent exm1053467 12 133084818 [A/C] NM_001142641 FBRSL1 EXON Missense_T124N exm1053470 12 133102332 [A/G] NM_001142641 FBRSL1 EXON Missense_V168M exm1053472 12 133102350 [T/C] NM_001142641 FBRSL1 EXON Missense_R174W exm1053473 12 133102351 [A/G] NM_001142641 FBRSL1 EXON Missense_R174Q exm1053509 12 133149168 [T/C] NM_001142641 FBRSL1 EXON Missense_P515L exm1053522 12 133158097 [T/C] NM_001142641 FBRSL1 EXON Missense_L679P exm1053525 12 133158347 [A/G] NM_001142641 FBRSL1 EXON Missense_T688A exm1053528 12 133158650 [T/C] NM_001142641 FBRSL1 EXON Missense_P710S exm1053542 12 133181399 [T/C] NM_001195520 LRCOL1 EXON Missense_R42G exm1053544 12 133182818 [A/G] NM_001195520 LRCOL1 EXON Missense_T7M exm1053559 12 133196037 [T/C] NM_174873,NM_170683,NM_174872,NM_170682,NM_012226,NM_016318 P2RX2,P2RX2,P2RX2,P2RX2,P2RX2,P2RX2 EXON Synonymous_I62I,Synonymous_I62I,Silent,Synonymous_I62I,Missense_R40C,Synonymous_I62I exm1053561 12 133196062 [A/G] NM_174873,NM_170683,NM_174872,NM_170682,NM_012226,NM_016318 P2RX2,P2RX2,P2RX2,P2RX2,P2RX2,P2RX2 EXON Missense_E71K,Missense_E71K,Silent,Missense_E71K,Missense_R48Q,Missense_E71K exm1053569 12 133196451 [A/C] NM_174873,NM_170683,NM_174872,NM_170682,NM_012226,NM_016318 P2RX2,P2RX2,P2RX2,P2RX2,P2RX2,P2RX2 EXON Missense_T135P,Missense_T135P,Missense_T43P,Missense_T135P,Silent,Missense_T111P exm1053570 12 133196474 [A/C] NM_174873,NM_170683,NM_174872,NM_170682,NM_012226,NM_016318 P2RX2,P2RX2,P2RX2,P2RX2,P2RX2,P2RX2 EXON Nonsense_C142X,Nonsense_C142X,Nonsense_C50X,Nonsense_C142X,Silent,Nonsense_C118X exm1053574 12 133196619 [A/G] NM_174873,NM_170683,NM_174872,NM_170682,NM_012226,NM_016318 P2RX2,P2RX2,P2RX2,P2RX2,P2RX2,P2RX2 EXON Missense_Q164R,Missense_Q164R,Missense_Q72R,Missense_Q164R,Missense_Q92R,Missense_Q140R exm1053582 12 133197068 [C/G] NM_174873,NM_170683,NM_174872,NM_170682,NM_012226,NM_016318 P2RX2,P2RX2,P2RX2,P2RX2,P2RX2,P2RX2 EXON Missense_R225G,Missense_R225G,Missense_R133G,Missense_R225G,Missense_R153G,Missense_R201G exm1053585 12 133197122 [T/C] NM_174873,NM_170683,NM_174872,NM_170682,NM_012226,NM_016318 P2RX2,P2RX2,P2RX2,P2RX2,P2RX2,P2RX2 EXON Missense_F243L,Missense_F243L,Missense_F151L,Missense_F243L,Missense_F171L,Missense_F219L exm1053586 12 133197132 [A/G] NM_174873,NM_170683,NM_174872,NM_170682,NM_012226,NM_016318 P2RX2,P2RX2,P2RX2,P2RX2,P2RX2,P2RX2 EXON Missense_E246G,Missense_E246G,Missense_E154G,Missense_E246G,Missense_E174G,Missense_E222G exm1053599 12 133197857 [A/G] NM_174873,NM_170683,NM_174872,NM_170682,NM_012226,NM_016318 P2RX2,P2RX2,P2RX2,P2RX2,P2RX2,P2RX2 EXON Missense_K308E,Missense_K308E,Missense_K216E,Missense_K308E,Missense_K236E,Missense_K284E exm1053603 12 133197882 [T/C] NM_174873,NM_170683,NM_174872,NM_170682,NM_012226,NM_016318 P2RX2,P2RX2,P2RX2,P2RX2,P2RX2,P2RX2 EXON Missense_T316M,Missense_T316M,Missense_T224M,Missense_T316M,Missense_T244M,Missense_T292M exm1053604 12 133197899 [A/G] NM_174873,NM_170683,NM_174872,NM_170682,NM_012226,NM_016318 P2RX2,P2RX2,P2RX2,P2RX2,P2RX2,P2RX2 EXON Missense_G322R,Missense_G322R,Missense_G230R,Missense_G322R,Missense_G250R,Missense_G298R exm1053615 12 133198160 [A/G] NM_174873,NM_170683,NM_174872,NM_170682,NM_012226,NM_016318 P2RX2,P2RX2,P2RX2,P2RX2,P2RX2,P2RX2 EXON Silent,Missense_G366R,Silent,Silent,Silent,Silent exm2250709 12 133198285 [A/G] NM_174873,NM_170683,NM_174872,NM_170682,NM_012226,NM_016318 P2RX2,P2RX2,P2RX2,P2RX2,P2RX2,P2RX2 EXON Silent,Synonymous_V407V,Synonymous_V289V,Synonymous_V381V,Synonymous_V309V,Synonymous_V357V exm1053623 12 133198293 [T/C] NM_174873,NM_170683,NM_174872,NM_170682,NM_012226,NM_016318 P2RX2,P2RX2,P2RX2,P2RX2,P2RX2,P2RX2 EXON Silent,Missense_P410L,Missense_P292L,Missense_P384L,Missense_P312L,Missense_P360L exm1053629 12 133198361 [A/G] NM_174873,NM_170683,NM_174872,NM_170682,NM_012226,NM_016318 P2RX2,P2RX2,P2RX2,P2RX2,P2RX2,P2RX2 EXON Silent,Missense_G433S,Missense_G315S,Missense_G407S,Missense_G335S,Missense_G383S exm2220264 12 133198390 [A/C] NM_174873,NM_170683,NM_174872,NM_170682,NM_012226,NM_016318 P2RX2,P2RX2,P2RX2,P2RX2,P2RX2,P2RX2 EXON Silent,Missense_S442R,Missense_S324R,Missense_S416R,Missense_S344R,Missense_S392R exm1053637 12 133198505 [A/G] NM_174873,NM_170683,NM_174872,NM_170682,NM_012226,NM_016318 P2RX2,P2RX2,P2RX2,P2RX2,P2RX2,P2RX2 EXON Missense_E388K,Missense_E481K,Missense_E363K,Missense_E455K,Missense_E383K,Missense_E431K exm1053646 12 133201324 [C/G] NM_006231 POLE EXON Missense_L2274V exm1053647 12 133201327 [T/A] NM_006231 POLE EXON Missense_T2273S exm1053652 12 133201381 [A/T] NM_006231 POLE EXON Missense_I2255F exm1053678 12 133202740 [T/C] NM_006231 POLE EXON Missense_R2165H exm1053681 12 133202788 [T/C] NM_006231 POLE EXON Missense_R2149H exm1053682 12 133202816 [T/C] NM_006231 POLE EXON Missense_E2140K exm2250711 12 133208979 [T/C] NM_006231 POLE EXON Synonymous_S2084S exm1053691 12 133208979 [T/C] NM_006231 POLE EXON Synonymous_S2084S exm1053697 12 133209262 [T/C] NM_006231 POLE EXON Missense_G2042R exm1053708 12 133209380 [T/C] NM_006231 POLE EXON Synonymous_A2002A exm1053717 12 133212485 [T/C] NM_006231 POLE EXON Missense_C1935Y exm1053727 12 133214619 [T/C] NM_006231 POLE EXON Missense_V1887M exm1053729 12 133214642 [T/C] NM_006231 POLE EXON Missense_R1879H exm1053737 12 133214708 [T/C] NM_006231 POLE EXON Missense_K1857R exm1053740 12 133215721 [A/G] NM_006231 POLE EXON Missense_L1848F exm1053759 12 133218388 [A/C] NM_006231 POLE EXON Missense_Q1741H exm1053765 12 133218801 [A/G] NM_006231 POLE EXON Missense_A1712V exm1053785 12 133219314 [T/G] NM_006231 POLE EXON Missense_E1577A exm1053791 12 133219489 [C/G] NM_006231 POLE EXON Missense_P1549A exm1053798 12 133219827 [T/C] NM_006231 POLE EXON Missense_V1512I exm1053800 12 133219838 [T/C] NM_006231 POLE EXON Missense_R1508H exm1053814 12 133220454 [A/G] NM_006231 POLE EXON Missense_A1420V exm1053815 12 133220467 [T/C] NM_006231 POLE EXON Missense_A1416T exm1053818 12 133220526 [T/C] NM_006231 POLE EXON Missense_N1396S exm1053819 12 133220529 [T/C] NM_006231 POLE EXON Missense_Y1395C exm1053821 12 133220544 [T/C] NM_006231 POLE EXON Missense_R1390H exm1053822 12 133225519 [T/C] NM_006231 POLE EXON Missense_R1382H exm1053823 12 133225553 [A/G] NM_006231 POLE EXON Nonsense_R1371X exm1053826 12 133225607 [T/C] NM_006231 POLE EXON Missense_S1353G exm1053827 12 133225609 [G/C] NM_006231 POLE EXON Missense_G1352A exm2220270 12 133225921 [T/C] NM_006231 POLE EXON Missense_I1326V exm1053834 12 133225926 [T/C] NM_006231 POLE EXON Missense_R1324H exm1053839 12 133226035 [T/C] NM_006231 POLE EXON Missense_A1288T exm1053840 12 133226046 [T/C] NM_006231 POLE EXON Missense_R1284Q exm1053843 12 133226089 [A/C] NM_006231 POLE EXON Missense_V1270F exm1053847 12 133226340 [T/C] NM_006231 POLE EXON Missense_E1240K exm1760189 12 133226360 [T/C] NM_006231 POLE EXON Missense_R1233Q exm1760191 12 133226412 [T/C] NM_006231 POLE EXON Missense_G1216S exm1053865 12 133234459 [A/G] NM_006231 POLE EXON Nonsense_R1125X exm1053869 12 133235911 [T/C] NM_006231 POLE EXON Missense_R1082H exm1053870 12 133235927 [A/G] NM_006231 POLE EXON Missense_R1077C exm1053876 12 133237569 [T/C] NM_006231 POLE EXON Missense_V1016M exm1053878 12 133237641 [T/C] NM_006231 POLE EXON Missense_A992T exm1053886 12 133238204 [A/G] NM_006231 POLE EXON Missense_S925P exm1053889 12 133240613 [T/C] NM_006231 POLE EXON Missense_A895T exm1053896 12 133241007 [A/G] NM_006231 POLE EXON Missense_F837S exm1053919 12 133244944 [A/G] NM_006231 POLE EXON Missense_A724V exm1053926 12 133245025 [C/G] NM_006231 POLE EXON Missense_P697R exm1053927 12 133245032 [A/T] NM_006231 POLE EXON Missense_F695I exm1053938 12 133245483 [T/C] NM_006231 POLE EXON Missense_V613I exm1760245 12 133249254 [A/G] NM_006231 POLE EXON Missense_S549P exm1053955 12 133249365 [T/C] NM_006231 POLE EXON Missense_A512T exm1053970 12 133250183 [T/C] NM_006231 POLE EXON Missense_R446Q exm1053972 12 133250232 [T/C] NM_006231 POLE EXON Missense_A430T exm1053978 12 133252072 [T/C] NM_006231 POLE EXON Missense_G380S exm1053983 12 133252406 [A/C] NM_006231 POLE EXON Missense_A341S exm1053985 12 133252685 [T/C] NM_006231 POLE EXON Missense_D339N exm1053987 12 133252693 [T/C] NM_006231 POLE EXON Missense_N336S exm1053994 12 133253180 [T/A] NM_006231 POLE EXON Missense_D287E exm1053996 12 133253197 [A/G] NM_006231 POLE EXON Missense_P282S exm1053999 12 133253971 [T/C] NM_006231 POLE EXON Missense_R260Q exm1054000 12 133253974 [T/C] NM_006231 POLE EXON Missense_R259H exm1054003 12 133253995 [A/G] NM_006231 POLE EXON Missense_A252V exm1054009 12 133254193 [A/G] NM_006231 POLE EXON Missense_R231C exm1054034 12 133257774 [A/G] NM_006231 POLE EXON Missense_R52W exm1054035 12 133257789 [A/G] NM_006231 POLE EXON Missense_R47W exm1054041 12 133257837 [A/C] NM_006231 POLE EXON Missense_A31S exm1054045 12 133263886 [G/C] NM_006231 POLE EXON Missense_G6R exm1054052 12 133272470 [T/G] NM_018663 PXMP2 EXON Synonymous_G79G exm1054061 12 133277835 [A/G] NM_018663 PXMP2 Silent exm1054064 12 133277860 [A/G] NM_018663 PXMP2 EXON Missense_A142T exm1054066 12 133277870 [T/G] NM_018663 PXMP2 EXON Missense_R145M exm1054077 12 133281220 [A/G] NM_018663 PXMP2 EXON Missense_A179T exm1054086 12 133291473 [A/G] NM_001170543,NM_001170544,NM_138575 PGAM5,PGAM5,PGAM5 EXON Missense_R74Q,Missense_R74Q,Missense_R74Q exm1054092 12 133291605 [A/G] NM_001170543,NM_001170544,NM_138575 PGAM5,PGAM5,PGAM5 EXON Missense_R118H,Missense_R118H,Missense_R118H exm1054122 12 133295353 [T/C] NM_001170543,NM_001170544,NM_138575 PGAM5,PGAM5,PGAM5 EXON Silent,Silent,Missense_P242L exm1054126 12 133295382 [G/C] NM_001170543,NM_001170544,NM_138575 PGAM5,PGAM5,PGAM5 EXON Silent,Silent,Missense_L252V exm1054134 12 133303836 [T/C] NM_015114 ANKLE2 EXON Missense_A937T exm1054139 12 133303884 [T/C] NM_015114 ANKLE2 EXON Missense_V921M exm1054140 12 133303923 [T/C] NM_015114 ANKLE2 EXON Missense_A908T exm1054150 12 133304640 [A/G] NM_015114 ANKLE2 EXON Missense_Y865H exm1054151 12 133304654 [G/C] NM_015114 ANKLE2 EXON Missense_S860T exm1760329 12 133304694 [T/C] NM_015114 ANKLE2 EXON Missense_V847I exm1054169 12 133306559 [A/G] NM_015114 ANKLE2 EXON Missense_S730L exm1054170 12 133306589 [T/C] NM_015114 ANKLE2 EXON Missense_R720H exm1054175 12 133306676 [A/G] NM_015114 ANKLE2 EXON Missense_P691L exm1054178 12 133306710 [T/C] NM_015114 ANKLE2 EXON Missense_E680K exm1054189 12 133306808 [T/C] NM_015114 ANKLE2 EXON Missense_S647N exm1054195 12 133311055 [A/G] NM_015114 ANKLE2 EXON Missense_L603F exm1054205 12 133313525 [A/G] NM_015114 ANKLE2 EXON Missense_P516L exm1054207 12 133313556 [T/C] NM_015114 ANKLE2 EXON Missense_V506I exm1054213 12 133318007 [T/C] NM_015114 ANKLE2 EXON Missense_K473R exm1054220 12 133319817 [T/C] NM_015114 ANKLE2 EXON Missense_D426N exm1054233 12 133324902 [A/G] NM_015114 ANKLE2 EXON Missense_S288L exm1054241 12 133331351 [T/C] NM_015114 ANKLE2 EXON Missense_D184N exm1054243 12 133331371 [A/G] NM_015114 ANKLE2 EXON Missense_S177L exm1054250 12 133331537 [A/G] NM_015114 ANKLE2 EXON Missense_H122Y exm1054257 12 133331668 [T/C] NM_015114 ANKLE2 EXON Missense_D78G exm1054258 12 133331671 [A/G] NM_015114 ANKLE2 EXON Missense_P77L exm1054260 12 133331689 [T/C] NM_015114 ANKLE2 EXON Missense_R71Q exm1054274 12 133349749 [T/C] NM_005895 GOLGA3 EXON Missense_R1480H exm1054276 12 133349756 [T/C] NM_005895 GOLGA3 EXON Missense_G1478S exm1054299 12 133350888 [T/C] NM_005895 GOLGA3 EXON Missense_E1388K exm1054306 12 133351746 [T/C] NM_005895 GOLGA3 EXON Missense_R1375H exm1054309 12 133351809 [A/G] NM_005895 GOLGA3 EXON Missense_S1354L exm1054312 12 133351888 [T/C] NM_005895 GOLGA3 EXON Missense_V1328I exm1054318 12 133353246 [G/C] NM_005895 GOLGA3 EXON Missense_L1318V exm1054319 12 133353250 [A/C] NM_005895 GOLGA3 EXON Missense_K1316N exm1760403 12 133353269 [A/G] NM_005895 GOLGA3 EXON Missense_T1310M exm1054322 12 133353341 [A/G] NM_005895 GOLGA3 EXON Missense_M1286T exm1054328 12 133353671 [T/C] NM_005895 GOLGA3 EXON Missense_R1243Q exm1054335 12 133354262 [T/C] NM_005895 GOLGA3 EXON Missense_D1238N exm1054337 12 133354268 [T/C] NM_005895 GOLGA3 EXON Missense_E1236K exm1054339 12 133354313 [T/C] NM_005895 GOLGA3 EXON Missense_K1221E exm2220281 12 133354366 [T/C] NM_005895 GOLGA3 EXON Missense_G1203E exm1054348 12 133357397 [T/C] NM_005895 GOLGA3 EXON Missense_S1190N exm1054349 12 133357405 [G/C] NM_005895 GOLGA3 EXON Missense_K1187N exm1054350 12 133357412 [T/C] NM_005895 GOLGA3 EXON Missense_K1185R exm1054351 12 133357422 [T/C] NM_005895 GOLGA3 EXON Missense_E1182K exm1054353 12 133357464 [A/G] NM_005895 GOLGA3 EXON Missense_R1168C exm1760426 12 133358985 [A/C] NM_005895 GOLGA3 EXON Missense_L1121R exm1054365 12 133360719 [A/G] NM_005895,NM_001172557 GOLGA3,GOLGA3 EXON Silent,Missense_R1100C exm1760427 12 133360724 [T/C] NM_005895,NM_001172557 GOLGA3,GOLGA3 EXON Silent,Missense_R1098Q exm1054369 12 133360878 [C/G] NM_005895,NM_001172557 GOLGA3,GOLGA3 EXON Missense_L1047V,Missense_L1047V exm1054378 12 133363082 [A/T] NM_005895,NM_001172557 GOLGA3,GOLGA3 EXON Missense_Q989L,Missense_Q989L exm1054389 12 133363343 [T/C] NM_005895,NM_001172557 GOLGA3,GOLGA3 EXON Missense_A948T,Missense_A948T exm1054392 12 133363374 [T/C] NM_005895,NM_001172557 GOLGA3,GOLGA3 Silent,Silent exm1054400 12 133365689 [T/C] NM_005895,NM_001172557 GOLGA3,GOLGA3 EXON Missense_R912H,Missense_R912H exm1054406 12 133365741 [A/G] NM_005895,NM_001172557 GOLGA3,GOLGA3 EXON Missense_R895W,Missense_R895W exm1054408 12 133365755 [A/G] NM_005895,NM_001172557 GOLGA3,GOLGA3 EXON Missense_V890A,Missense_V890A exm1054422 12 133367873 [A/G] NM_005895,NM_001172557 GOLGA3,GOLGA3 EXON Missense_H826Y,Missense_H826Y exm1760461 12 133373125 [T/C] NM_005895,NM_001172557 GOLGA3,GOLGA3 EXON Synonymous_Q700Q,Synonymous_Q700Q exm1054446 12 133373153 [A/G] NM_005895,NM_001172557 GOLGA3,GOLGA3 EXON Missense_A691V,Missense_A691V exm1054447 12 133373225 [T/G] NM_005895,NM_001172557 GOLGA3,GOLGA3 EXON Missense_E667A,Missense_E667A exm1054454 12 133374933 [T/C] NM_005895,NM_001172557 GOLGA3,GOLGA3 EXON Missense_G644D,Missense_G644D exm1054468 12 133378426 [T/C] NM_005895,NM_001172557 GOLGA3,GOLGA3 EXON Missense_Q576R,Missense_Q576R exm1054473 12 133378465 [A/G] NM_005895,NM_001172557 GOLGA3,GOLGA3 EXON Missense_A563V,Missense_A563V exm1054477 12 133378499 [C/G] NM_005895,NM_001172557 GOLGA3,GOLGA3 EXON Missense_L552V,Missense_L552V exm1054483 12 133381403 [A/G] NM_005895,NM_001172557 GOLGA3,GOLGA3 EXON Missense_A499V,Missense_A499V exm1054490 12 133381547 [A/G] NM_005895,NM_001172557 GOLGA3,GOLGA3 EXON Missense_A451V,Missense_A451V exm1760480 12 133383833 [T/A] NM_005895,NM_001172557 GOLGA3,GOLGA3 EXON Missense_M407K,Missense_M407K exm1760482 12 133384514 [G/C] NM_005895,NM_001172557 GOLGA3,GOLGA3 EXON Missense_G381R,Missense_G381R exm1054510 12 133384516 [T/C] NM_005895,NM_001172557 GOLGA3,GOLGA3 EXON Missense_N380S,Missense_N380S exm1054511 12 133384546 [A/G] NM_005895,NM_001172557 GOLGA3,GOLGA3 EXON Missense_A370V,Missense_A370V exm1054512 12 133384553 [T/C] NM_005895,NM_001172557 GOLGA3,GOLGA3 EXON Missense_A368T,Missense_A368T exm2250713 12 133384554 [A/G] NM_005895,NM_001172557 GOLGA3,GOLGA3 EXON Synonymous_A367A,Synonymous_A367A exm1054518 12 133384642 [A/G] NM_005895,NM_001172557 GOLGA3,GOLGA3 EXON Missense_T338M,Missense_T338M exm2220286 12 133384678 [T/C] NM_005895,NM_001172557 GOLGA3,GOLGA3 EXON Missense_R326Q,Missense_R326Q exm1054524 12 133384688 [T/C] NM_005895,NM_001172557 GOLGA3,GOLGA3 EXON Missense_A323T,Missense_A323T exm1054528 12 133384736 [T/C] NM_005895,NM_001172557 GOLGA3,GOLGA3 EXON Missense_V307M,Missense_V307M exm1054538 12 133384864 [A/G] NM_005895,NM_001172557 GOLGA3,GOLGA3 EXON Missense_P264L,Missense_P264L exm1054547 12 133389913 [A/C] NM_005895,NM_001172557 GOLGA3,GOLGA3 EXON Missense_V167L,Missense_V167L exm1760494 12 133393176 [T/G] NM_005895,NM_001172557 GOLGA3,GOLGA3 EXON Missense_E119A,Missense_E119A exm1054565 12 133393296 [T/G] NM_005895,NM_001172557 GOLGA3,GOLGA3 EXON Missense_P79Q,Missense_P79Q exm1054571 12 133393359 [A/G] NM_005895,NM_001172557 GOLGA3,GOLGA3 EXON Missense_P58L,Missense_P58L exm1054578 12 133398638 [A/G] NM_005895,NM_001172557 GOLGA3,GOLGA3 EXON Missense_A26V,Missense_A26V exm1054597 12 133420708 [A/G] NM_001161345,NM_001161346,NM_001161347,NM_018223,NM_001161344 CHFR,CHFR,CHFR,CHFR,CHFR EXON Missense_T594M,Missense_T583M,Missense_T503M,Missense_T554M,Missense_T595M exm1054598 12 133423662 [T/C] NM_001161345,NM_001161346,NM_001161347,NM_018223,NM_001161344 CHFR,CHFR,CHFR,CHFR,CHFR EXON Missense_V579M,Missense_V568M,Missense_V488M,Missense_V539M,Missense_V580M exm1054610 12 133425307 [A/G] NM_001161345,NM_001161346,NM_001161347,NM_018223,NM_001161344 CHFR,CHFR,CHFR,CHFR,CHFR EXON Missense_A510V,Missense_A499V,Missense_A419V,Missense_A470V,Missense_A511V exm1054616 12 133428242 [A/G] NM_001161345,NM_001161346,NM_001161347,NM_018223,NM_001161344 CHFR,CHFR,CHFR,CHFR,CHFR EXON Missense_A496V,Missense_A485V,Missense_A405V,Missense_A456V,Missense_A497V exm1054622 12 133428319 [A/G] NM_001161345,NM_001161346,NM_001161347,NM_018223,NM_001161344 CHFR,CHFR,CHFR,CHFR,CHFR EXON Synonymous_V470V,Synonymous_V459V,Synonymous_V379V,Synonymous_V430V,Synonymous_V471V exm1760528 12 133430146 [T/C] NM_001161345,NM_001161346,NM_001161347,NM_018223,NM_001161344 CHFR,CHFR,CHFR,CHFR,CHFR EXON Missense_V427M,Missense_V415M,Missense_V335M,Missense_V386M,Missense_V427M exm1054635 12 133433177 [A/G] NM_001161345,NM_001161346,NM_001161347,NM_018223,NM_001161344 CHFR,CHFR,CHFR,CHFR,CHFR EXON Missense_A381V,Missense_A369V,Missense_A289V,Missense_A340V,Missense_A381V exm1054654 12 133435735 [T/C] NM_001161345,NM_001161346,NM_001161347,NM_018223,NM_001161344 CHFR,CHFR,CHFR,CHFR,CHFR EXON Missense_R289K,Missense_R277K,Missense_R197K,Missense_R248K,Missense_R289K exm1054656 12 133435745 [T/C] NM_001161345,NM_001161346,NM_001161347,NM_018223,NM_001161344 CHFR,CHFR,CHFR,CHFR,CHFR EXON Missense_E286K,Missense_E274K,Missense_E194K,Missense_E245K,Missense_E286K exm1054660 12 133435778 [T/C] NM_001161345,NM_001161346,NM_001161347,NM_018223,NM_001161344 CHFR,CHFR,CHFR,CHFR,CHFR EXON Missense_A275T,Missense_A263T,Missense_A183T,Missense_A234T,Missense_A275T exm1054666 12 133438109 [A/G] NM_001161345,NM_001161346,NM_001161347,NM_018223,NM_001161344 CHFR,CHFR,CHFR,CHFR,CHFR EXON Missense_S244L,Missense_S232L,Missense_S152L,Missense_S203L,Missense_S244L exm1054669 12 133438121 [A/G] NM_001161345,NM_001161346,NM_001161347,NM_018223,NM_001161344 CHFR,CHFR,CHFR,CHFR,CHFR EXON Missense_A240V,Missense_A228V,Missense_A148V,Missense_A199V,Missense_A240V exm1054671 12 133438197 [A/G] NM_001161345,NM_001161346,NM_001161347,NM_018223,NM_001161344 CHFR,CHFR,CHFR,CHFR,CHFR EXON Missense_P215S,Missense_P203S,Missense_P123S,Missense_P174S,Missense_P215S exm1054684 12 133446413 [G/C] NM_001161345,NM_001161346,NM_001161347,NM_018223,NM_001161344 CHFR,CHFR,CHFR,CHFR,CHFR EXON Missense_N137K,Silent,Silent,Silent,Missense_N137K exm1054687 12 133448936 [T/C] NM_001161345,NM_001161346,NM_001161347,NM_018223,NM_001161344 CHFR,CHFR,CHFR,CHFR,CHFR EXON Missense_Q93R,Missense_Q93R,Missense_Q93R,Missense_Q93R,Missense_Q93R exm2271816 12 133498358 [T/G] NM_183238,NM_001164715 ZNF605,ZNF605 EXON Silent,Silent exm1054702 12 133502192 [T/C] NM_183238,NM_001164715 ZNF605,ZNF605 EXON Missense_D565N,Missense_D596N exm1054714 12 133502716 [T/G] NM_183238,NM_001164715 ZNF605,ZNF605 EXON Missense_E390A,Missense_E421A exm2220290 12 133503425 [T/C] NM_183238,NM_001164715 ZNF605,ZNF605 EXON Missense_E154K,Missense_E185K exm1054730 12 133503670 [T/C] NM_183238,NM_001164715 ZNF605,ZNF605 EXON Missense_Y72C,Missense_Y103C exm2220292 12 133586821 [A/C] NM_001256279,NM_019591,NM_001256280 ZNF26,ZNF26,ZNF26 EXON Missense_T152N,Missense_T119N,Missense_T87N exm1054742 12 133586836 [A/G] NM_001256279,NM_019591,NM_001256280 ZNF26,ZNF26,ZNF26 EXON Missense_R157K,Missense_R124K,Missense_R92K exm1054768 12 133633717 [A/G] NM_003428,NM_001127372 ZNF84,ZNF84 EXON Missense_H139R,Missense_H139R exm1054788 12 133634950 [A/G] NM_003428,NM_001127372 ZNF84,ZNF84 EXON Missense_K550R,Missense_K550R exm1054809 12 133682198 [T/C] NM_003440 ZNF140 EXON Missense_P112L exm1054822 12 133682731 [T/C] NM_003440 ZNF140 EXON Missense_R290C exm1054824 12 133682767 [T/G] NM_003440 ZNF140 EXON Nonsense_E302X exm1054825 12 133682771 [C/G] NM_003440 ZNF140 EXON Missense_C303S exm1054827 12 133682795 [T/G] NM_003440 ZNF140 EXON Missense_R311L exm1054829 12 133682846 [T/C] NM_003440 ZNF140 EXON Missense_P328L exm1054830 12 133682866 [A/G] NM_003440 ZNF140 EXON Missense_R335G exm1054835 12 133683020 [T/C] NM_003440 ZNF140 EXON Missense_A386V exm1054838 12 133683186 [T/G] NM_003440 ZNF140 EXON Nonsense_Y441X exm1054846 12 133721109 [T/C] NM_015394 ZNF10 EXON Missense_R11W exm1054852 12 133728485 [A/C] NM_015394 ZNF10 EXON Missense_H84P exm1054859 12 133732236 [T/A] NM_015394 ZNF10 EXON Missense_Q135L exm1054864 12 133732395 [A/G] NM_015394 ZNF10 EXON Missense_R188H exm1054866 12 133732512 [A/G] NM_015394 ZNF10 EXON Missense_Q227R exm1760603 12 133732580 [A/G] NM_015394 ZNF10 EXON Missense_G250S exm1054868 12 133732604 [A/G] NM_015394 ZNF10 EXON Missense_G258S exm1760604 12 133732685 [T/C] NM_015394 ZNF10 EXON Missense_L285F exm1054893 12 133733490 [T/C] NM_015394 ZNF10 EXON Missense_A553V exm1054899 12 133764464 [T/C] NM_003415,NM_001165885,NM_001165884,NM_001165887,NM_001165883,NM_001165886,NM_152943,NM_001165881,NM_001165882 ZNF268,ZNF268,ZNF268,ZNF268,ZNF268,ZNF268,ZNF268,ZNF268,ZNF268 EXON Missense_P14S,Missense_P14S,Silent,Silent,Missense_P14S,Silent,Missense_P14S,Missense_P14S,Silent exm1054912 12 133768553 [A/T] NM_003415,NM_001165885,NM_001165884,NM_001165887,NM_001165883,NM_001165886,NM_152943,NM_001165881,NM_001165882 ZNF268,ZNF268,ZNF268,ZNF268,ZNF268,ZNF268,ZNF268,ZNF268,ZNF268 EXON Missense_M141L,Synonymous_V98V,Silent,Missense_M74L,Silent,Synonymous_V31V,Missense_M141L,Missense_M141L,Missense_M58L exm1054917 12 133778796 [T/C] NM_003415,NM_001165885,NM_001165884,NM_001165887,NM_001165883,NM_001165886,NM_152943,NM_001165881,NM_001165882 ZNF268,ZNF268,ZNF268,ZNF268,ZNF268,ZNF268,ZNF268,ZNF268,ZNF268 EXON Missense_T175M,Missense_R133W,Missense_R34W,Silent,Missense_R101W,Missense_R66W,Silent,Missense_T175M,Missense_T92M exm1054919 12 133778798 [G/C] NM_003415,NM_001165885,NM_001165884,NM_001165887,NM_001165883,NM_001165886,NM_152943,NM_001165881,NM_001165882 ZNF268,ZNF268,ZNF268,ZNF268,ZNF268,ZNF268,ZNF268,ZNF268,ZNF268 EXON Missense_A176P,Synonymous_R133R,Synonymous_R34R,Silent,Synonymous_R101R,Synonymous_R66R,Silent,Missense_A176P,Missense_A93P exm1054924 12 133779057 [T/C] NM_003415,NM_001165885,NM_001165884,NM_001165887,NM_001165883,NM_001165886,NM_152943,NM_001165881,NM_001165882 ZNF268,ZNF268,ZNF268,ZNF268,ZNF268,ZNF268,ZNF268,ZNF268,ZNF268 EXON Missense_S262L,Silent,Silent,Silent,Silent,Silent,Silent,Missense_S262L,Missense_S179L exm1054933 12 133779285 [A/G] NM_003415,NM_001165885,NM_001165884,NM_001165887,NM_001165883,NM_001165886,NM_152943,NM_001165881,NM_001165882 ZNF268,ZNF268,ZNF268,ZNF268,ZNF268,ZNF268,ZNF268,ZNF268,ZNF268 EXON Missense_R338K,Silent,Silent,Silent,Silent,Silent,Silent,Missense_R338K,Missense_R255K exm1054934 12 133779327 [T/G] NM_003415,NM_001165885,NM_001165884,NM_001165887,NM_001165883,NM_001165886,NM_152943,NM_001165881,NM_001165882 ZNF268,ZNF268,ZNF268,ZNF268,ZNF268,ZNF268,ZNF268,ZNF268,ZNF268 EXON Missense_R352I,Silent,Silent,Silent,Silent,Silent,Silent,Missense_R352I,Missense_R269I exm1054936 12 133779419 [A/T] NM_003415,NM_001165885,NM_001165884,NM_001165887,NM_001165883,NM_001165886,NM_152943,NM_001165881,NM_001165882 ZNF268,ZNF268,ZNF268,ZNF268,ZNF268,ZNF268,ZNF268,ZNF268,ZNF268 EXON Missense_S383T,Silent,Silent,Silent,Silent,Silent,Silent,Missense_S383T,Missense_S300T exm2220298 12 133779489 [A/C] NM_003415,NM_001165885,NM_001165884,NM_001165887,NM_001165883,NM_001165886,NM_152943,NM_001165881,NM_001165882 ZNF268,ZNF268,ZNF268,ZNF268,ZNF268,ZNF268,ZNF268,ZNF268,ZNF268 EXON Missense_H406P,Silent,Silent,Silent,Silent,Silent,Silent,Missense_H406P,Missense_H323P exm1054944 12 133779815 [T/C] NM_003415,NM_001165885,NM_001165884,NM_001165887,NM_001165883,NM_001165886,NM_152943,NM_001165881,NM_001165882 ZNF268,ZNF268,ZNF268,ZNF268,ZNF268,ZNF268,ZNF268,ZNF268,ZNF268 EXON Missense_L515F,Silent,Silent,Silent,Silent,Silent,Silent,Missense_L515F,Missense_L432F exm1054951 12 133780309 [T/G] NM_003415,NM_001165885,NM_001165884,NM_001165887,NM_001165883,NM_001165886,NM_152943,NM_001165881,NM_001165882 ZNF268,ZNF268,ZNF268,ZNF268,ZNF268,ZNF268,ZNF268,ZNF268,ZNF268 EXON Missense_L679F,Silent,Silent,Silent,Silent,Silent,Silent,Missense_L679F,Missense_L596F exm1054952 12 133780312 [C/G] NM_003415,NM_001165885,NM_001165884,NM_001165887,NM_001165883,NM_001165886,NM_152943,NM_001165881,NM_001165882 ZNF268,ZNF268,ZNF268,ZNF268,ZNF268,ZNF268,ZNF268,ZNF268,ZNF268 EXON Missense_K680N,Silent,Silent,Silent,Silent,Silent,Silent,Missense_K680N,Missense_K597N exm1054957 12 133780554 [T/C] NM_003415,NM_001165885,NM_001165884,NM_001165887,NM_001165883,NM_001165886,NM_152943,NM_001165881,NM_001165882 ZNF268,ZNF268,ZNF268,ZNF268,ZNF268,ZNF268,ZNF268,ZNF268,ZNF268 EXON Missense_F761S,Silent,Silent,Silent,Silent,Silent,Silent,Missense_F761S,Missense_F678S exm1054959 12 133780754 [T/C] NM_003415,NM_001165885,NM_001165884,NM_001165887,NM_001165883,NM_001165886,NM_152943,NM_001165881,NM_001165882 ZNF268,ZNF268,ZNF268,ZNF268,ZNF268,ZNF268,ZNF268,ZNF268,ZNF268 EXON Nonsense_R828X,Silent,Silent,Silent,Silent,Silent,Silent,Nonsense_R828X,Nonsense_R745X exm1054965 12 133780851 [C/G] NM_003415,NM_001165885,NM_001165884,NM_001165887,NM_001165883,NM_001165886,NM_152943,NM_001165881,NM_001165882 ZNF268,ZNF268,ZNF268,ZNF268,ZNF268,ZNF268,ZNF268,ZNF268,ZNF268 EXON Missense_R860T,Silent,Silent,Silent,Silent,Silent,Silent,Missense_R860T,Missense_R777T exm1054970 12 133803551 [G/C] NM_001191054 ANHX EXON Missense_S230C exm1054971 12 133803561 [A/G] NM_001191054 ANHX EXON Missense_R227C exm1054977 12 133810935 [T/C] NM_001191054 ANHX EXON Missense_S3N exm2271904 13 19729760 [T/C] exm1055015 13 19748089 [A/C] NM_006001 TUBA3C EXON Nonsense_E423X exm2251344 13 19751127 [A/G] NM_006001 TUBA3C EXON Synonymous_I332I exm1055077 13 19752400 [A/G] NM_006001 TUBA3C EXON Missense_R121W exm1055091 13 19753484 [C/G] NM_006001 TUBA3C EXON Missense_V75L exm2267493 13 19861674 [A/G] NR_027248 ANKRD26P3 Silent exm2267581 13 19980323 [A/G] exm2221434 13 20000621 [T/C] NR_073485,NM_001141968,NR_073486,NM_001271850,NR_073487,NM_199254,NM_130785 TPTE2,TPTE2,TPTE2,TPTE2,TPTE2,TPTE2,TPTE2 EXON Silent,Missense_N336D,Silent,Missense_N118D,Silent,Missense_N447D,Missense_N370D exm1055155 13 20000630 [T/C] NR_073485,NM_001141968,NR_073486,NM_001271850,NR_073487,NM_199254,NM_130785 TPTE2,TPTE2,TPTE2,TPTE2,TPTE2,TPTE2,TPTE2 EXON Silent,Missense_I333V,Silent,Missense_I115V,Silent,Missense_I444V,Missense_I367V exm1055178 13 20012285 [T/C] NR_073485,NM_001141968,NR_073486,NM_001271850,NR_073487,NM_199254,NM_130785 TPTE2,TPTE2,TPTE2,TPTE2,TPTE2,TPTE2,TPTE2 EXON Silent,Missense_G217R,Silent,Silent,Silent,Missense_G328R,Missense_G251R exm1055191 13 20025305 [T/C] NR_073485,NM_001141968,NR_073486,NR_073487,NM_199254,NM_130785 TPTE2,TPTE2,TPTE2,TPTE2,TPTE2,TPTE2 EXON Silent,Missense_S157G,Silent,Silent,Missense_S268G,Missense_S191G exm2251347 13 20025309 [T/G] NR_073485,NM_001141968,NR_073486,NR_073487,NM_199254,NM_130785 TPTE2,TPTE2,TPTE2,TPTE2,TPTE2,TPTE2 EXON Silent,Synonymous_L155L,Silent,Silent,Synonymous_L266L,Synonymous_L189L exm2221441 13 20038614 [T/G] NR_073485,NM_001141968,NR_073486,NR_073487,NM_199254,NM_130785 TPTE2,TPTE2,TPTE2,TPTE2,TPTE2,TPTE2 EXON Silent,Missense_F130L,Silent,Silent,Missense_F241L,Missense_F164L exm2277047 13 20039679 [T/G] NR_073485,NM_001141968,NR_073486,NR_073487,NM_199254,NM_130785 TPTE2,TPTE2,TPTE2,TPTE2,TPTE2,TPTE2 EXON Silent,Synonymous_R69R,Silent,Silent,Synonymous_R180R,Synonymous_R103R exm2221445 13 20039687 [T/C] NR_073485,NM_001141968,NR_073486,NR_073487,NM_199254,NM_130785 TPTE2,TPTE2,TPTE2,TPTE2,TPTE2,TPTE2 EXON Silent,Missense_R66Q,Silent,Silent,Missense_R177Q,Missense_R100Q exm1055253 13 20216261 [A/G] NM_017520 MPHOSPH8 EXON Missense_V74I exm1055254 13 20216271 [A/G] NM_017520 MPHOSPH8 EXON Missense_K77R exm1055263 13 20220815 [A/G] NM_017520 MPHOSPH8 EXON Missense_K201R exm1055272 13 20220968 [A/C] NM_017520 MPHOSPH8 EXON Missense_T252K exm1055276 13 20220991 [T/G] NM_017520 MPHOSPH8 EXON Missense_S260A exm1055304 13 20224202 [T/G] NM_017520 MPHOSPH8 EXON Missense_D460Y exm1055306 13 20224268 [A/C] NM_017520 MPHOSPH8 EXON Missense_K482Q exm1055308 13 20224319 [A/G] NM_017520 MPHOSPH8 EXON Missense_E499K exm1055313 13 20233141 [A/G] NM_017520 MPHOSPH8 EXON Missense_R528K exm1055319 13 20233380 [C/G] NM_017520 MPHOSPH8 EXON Missense_T581S exm1055323 13 20235877 [A/G] NM_017520 MPHOSPH8 EXON Missense_G611R exm2275300 13 20240719 [T/C] NM_017520 MPHOSPH8 EXON Missense_T725I exm1055347 13 20244421 [A/G] NM_017520 MPHOSPH8 EXON Missense_K792R exm1055419 13 20398669 [T/C] NM_001142684 ZMYM5 EXON Missense_H653R exm1055422 13 20398742 [T/C] NM_001142684 ZMYM5 EXON Missense_V629I exm1055424 13 20398839 [T/A] NM_001142684 ZMYM5 EXON Missense_F596L exm1055434 13 20399137 [T/G] NM_001142684 ZMYM5 EXON Missense_A497D exm1055435 13 20399156 [A/G] NM_001142684 ZMYM5 EXON Missense_S491P exm1055448 13 20409754 [T/C] NM_001142684 ZMYM5 EXON Missense_A372T exm1055449 13 20409784 [T/C] NM_001142684 ZMYM5 EXON Missense_S362G exm1055452 13 20411701 [T/C] NM_001142684,NM_001039649,NM_001039650 ZMYM5,ZMYM5,ZMYM5 EXON Silent,Silent,Missense_R378H exm1055458 13 20411939 [T/G] NM_001142684,NM_001039649,NM_001039650 ZMYM5,ZMYM5,ZMYM5 EXON Missense_N299H,Synonymous_L203L,Missense_N299H exm1055461 13 20412855 [T/C] NM_001142684,NM_001039649,NM_001039650 ZMYM5,ZMYM5,ZMYM5 EXON Missense_S286N,Silent,Missense_S286N exm1055466 13 20412906 [C/G] NM_001142684,NM_001039649,NM_001039650 ZMYM5,ZMYM5,ZMYM5 EXON Missense_S269C,Silent,Missense_S269C exm1055472 13 20413021 [T/C] NM_001142684,NM_001039649,NM_001039650 ZMYM5,ZMYM5,ZMYM5 EXON Missense_T231A,Silent,Missense_T231A exm1055475 13 20413088 [A/C] NM_001142684,NM_001039649,NM_001039650 ZMYM5,ZMYM5,ZMYM5 EXON Missense_N208K,Silent,Missense_N208K exm1055477 13 20425539 [T/C] NM_001142684,NM_001039649,NM_001039650 ZMYM5,ZMYM5,ZMYM5 EXON Missense_G181E,Missense_G181E,Missense_G181E exm1055480 13 20425587 [T/G] NM_001142684,NM_001039649,NM_001039650 ZMYM5,ZMYM5,ZMYM5 EXON Missense_T165N,Missense_T165N,Missense_T165N exm1055483 13 20425867 [T/C] NM_001142684,NM_001039649,NM_001039650 ZMYM5,ZMYM5,ZMYM5 EXON Missense_D152N,Missense_D152N,Missense_D152N exm1055486 13 20425911 [A/C] NM_001142684,NM_001039649,NM_001039650 ZMYM5,ZMYM5,ZMYM5 EXON Missense_C137F,Missense_C137F,Missense_C137F exm1055488 13 20425948 [T/C] NM_001142684,NM_001039649,NM_001039650 ZMYM5,ZMYM5,ZMYM5 EXON Missense_I125V,Missense_I125V,Missense_I125V exm1055491 13 20426017 [A/G] NM_001142684,NM_001039649,NM_001039650 ZMYM5,ZMYM5,ZMYM5 EXON Missense_S102P,Missense_S102P,Missense_S102P exm1055495 13 20426142 [A/T] NM_001142684,NM_001039649,NM_001039650 ZMYM5,ZMYM5,ZMYM5 EXON Missense_V60D,Missense_V60D,Missense_V60D exm1055497 13 20426175 [G/C] NM_001142684,NM_001039649,NM_001039650 ZMYM5,ZMYM5,ZMYM5 EXON Nonsense_S49X,Nonsense_S49X,Nonsense_S49X exm1055500 13 20426279 [G/C] NM_001142684,NM_001039649,NM_001039650 ZMYM5,ZMYM5,ZMYM5 EXON Missense_Q14H,Missense_Q14H,Missense_Q14H exm1055508 13 20567327 [A/G] NM_003453,NM_197968,NM_001190964,NM_001190965 ZMYM2,ZMYM2,ZMYM2,ZMYM2 EXON Missense_A39T,Missense_A39T,Missense_A39T,Missense_A39T exm1055509 13 20567367 [T/C] NM_003453,NM_197968,NM_001190964,NM_001190965 ZMYM2,ZMYM2,ZMYM2,ZMYM2 EXON Missense_S52L,Missense_S52L,Missense_S52L,Missense_S52L exm1055518 13 20567666 [C/G] NM_003453,NM_197968,NM_001190964,NM_001190965 ZMYM2,ZMYM2,ZMYM2,ZMYM2 EXON Missense_D152H,Missense_D152H,Missense_D152H,Missense_D152H exm1055521 13 20567907 [A/T] NM_003453,NM_197968,NM_001190964,NM_001190965 ZMYM2,ZMYM2,ZMYM2,ZMYM2 EXON Missense_L232Q,Missense_L232Q,Missense_L232Q,Missense_L232Q exm1055543 13 20593731 [A/G] NM_003453,NM_197968,NM_001190964,NM_001190965 ZMYM2,ZMYM2,ZMYM2,ZMYM2 EXON Missense_M519I,Missense_M519I,Missense_M519I,Missense_M519I exm1055561 13 20626451 [A/G] NM_003453,NM_197968,NM_001190964,NM_001190965 ZMYM2,ZMYM2,ZMYM2,ZMYM2 EXON Synonymous_T831T,Synonymous_T831T,Synonymous_T831T,Synonymous_T831T exm2221454 13 20632833 [C/G] NM_003453,NM_197968,NM_001190964,NM_001190965 ZMYM2,ZMYM2,ZMYM2,ZMYM2 EXON Missense_S871C,Missense_S871C,Missense_S871C,Missense_S871C exm1055567 13 20635310 [A/G] NM_003453,NM_197968,NM_001190964,NM_001190965 ZMYM2,ZMYM2,ZMYM2,ZMYM2 EXON Missense_M953V,Missense_M953V,Missense_M953V,Missense_M953V exm1055571 13 20635356 [A/G] NM_003453,NM_197968,NM_001190964,NM_001190965 ZMYM2,ZMYM2,ZMYM2,ZMYM2 EXON Missense_N968S,Missense_N968S,Missense_N968S,Missense_N968S exm1055573 13 20637004 [A/C] NM_003453,NM_197968,NM_001190964,NM_001190965 ZMYM2,ZMYM2,ZMYM2,ZMYM2 EXON Missense_D977A,Missense_D977A,Missense_D977A,Missense_D977A exm1055574 13 20637020 [A/C] NM_003453,NM_197968,NM_001190964,NM_001190965 ZMYM2,ZMYM2,ZMYM2,ZMYM2 EXON Missense_D982E,Missense_D982E,Missense_D982E,Missense_D982E exm1055583 13 20641076 [T/C] NM_003453,NM_197968,NM_001190964,NM_001190965 ZMYM2,ZMYM2,ZMYM2,ZMYM2 EXON Missense_T1073M,Missense_T1073M,Missense_T1073M,Missense_T1073M exm1055621 13 20716533 [T/G] NM_021954 GJA3 EXON Missense_L299M exm1055624 13 20716818 [T/G] NM_021954 GJA3 EXON Missense_I204L exm1055659 13 20763104 [T/C] NM_004004 GJB2 EXON Missense_N206S exm1792130 13 20763113 [A/G] NM_004004 GJB2 EXON Missense_I203T exm1055662 13 20763138 [T/C] NM_004004 GJB2 EXON Missense_M195V exm1055666 13 20763210 [T/C] NM_004004 GJB2 EXON Missense_A171T exm1055668 13 20763243 [T/C] NM_004004 GJB2 EXON Missense_G160S exm1055671 13 20763264 [T/C] NM_004004 GJB2 EXON Missense_V153I exm1055672 13 20763294 [A/G] NM_004004 GJB2 EXON Missense_R143W exm1055674 13 20763305 [T/C] NM_004004 GJB2 EXON Missense_S139N exm1055675 13 20763341 [T/C] NM_004004 GJB2 EXON Missense_R127H exm1055676 13 20763353 [T/G] NM_004004 GJB2 EXON Missense_T123N exm1055677 13 20763366 [T/C] NM_004004 GJB2 EXON Missense_E119K exm1055678 13 20763380 [T/C] NM_004004 GJB2 EXON Missense_E114G exm1055684 13 20763472 [G/C] NM_004004 GJB2 EXON Missense_F83L exm1055689 13 20763552 [A/G] NM_004004 GJB2 EXON Nonsense_Q57X exm1055690 13 20763582 [A/C] NM_004004 GJB2 EXON Nonsense_E47X exm1055693 13 20763612 [T/C] NM_004004 GJB2 EXON Missense_V37I exm1055697 13 20763642 [T/C] NM_004004 GJB2 EXON Missense_V27I exm1055701 13 20763687 [A/C] NM_004004 GJB2 EXON Missense_G12C exm1055705 13 20763710 [T/C] NM_004004 GJB2 EXON Missense_G4D exm2271998 13 20767957 [T/G] exm1055712 13 20796940 [A/G] NM_001110219,NM_001110220,NM_001110221,NM_006783 GJB6,GJB6,GJB6,GJB6 EXON Missense_T227M,Missense_T227M,Missense_T227M,Missense_T227M exm1055717 13 20797013 [T/C] NM_001110219,NM_001110220,NM_001110221,NM_006783 GJB6,GJB6,GJB6,GJB6 EXON Missense_M203V,Missense_M203V,Missense_M203V,Missense_M203V exm1055718 13 20797025 [A/T] NM_001110219,NM_001110220,NM_001110221,NM_006783 GJB6,GJB6,GJB6,GJB6 EXON Missense_S199T,Missense_S199T,Missense_S199T,Missense_S199T exm1055726 13 20797144 [T/C] NM_001110219,NM_001110220,NM_001110221,NM_006783 GJB6,GJB6,GJB6,GJB6 EXON Missense_N159S,Missense_N159S,Missense_N159S,Missense_N159S exm1055732 13 20797281 [T/A] NM_001110219,NM_001110220,NM_001110221,NM_006783 GJB6,GJB6,GJB6,GJB6 EXON Missense_N113K,Missense_N113K,Missense_N113K,Missense_N113K exm1055737 13 20797408 [A/G] NM_001110219,NM_001110220,NM_001110221,NM_006783 GJB6,GJB6,GJB6,GJB6 EXON Missense_V71A,Missense_V71A,Missense_V71A,Missense_V71A exm1055752 13 20978318 [T/C] NM_015974 CRYL1 EXON Missense_E304K exm1055760 13 20978863 [T/C] NM_015974 CRYL1 EXON Missense_D253N exm1055767 13 20987496 [A/G] NM_015974 CRYL1 EXON Missense_L222F exm1055771 13 21006241 [T/C] NM_015974 CRYL1 EXON Synonymous_E211E exm1055783 13 21006393 [A/G] NM_015974 CRYL1 EXON Missense_H161Y exm1055791 13 21063517 [T/G] NM_015974 CRYL1 EXON Missense_H90N exm1055801 13 21086652 [T/C] NM_015974 CRYL1 EXON Missense_S27G exm1792228 13 21086676 [A/G] NM_015974 CRYL1 EXON Nonsense_R19X exm1055804 13 21099918 [T/C] NM_015974 CRYL1 EXON Missense_A6T exm1055811 13 21148610 [T/C] NM_006531,NM_175605 IFT88,IFT88 EXON Missense_I29T,Missense_I38T exm1055817 13 21165121 [A/G] NM_006531,NM_175605 IFT88,IFT88 EXON Missense_A76T,Missense_A85T exm1055819 13 21165139 [T/C] NM_006531,NM_175605 IFT88,IFT88 EXON Missense_P82S,Missense_P91S exm1055821 13 21165145 [A/G] NM_006531,NM_175605 IFT88,IFT88 EXON Missense_T84A,Missense_T93A exm1055824 13 21166491 [T/C] NM_006531,NM_175605 IFT88,IFT88 EXON Missense_L116F,Missense_L125F exm1055839 13 21173661 [T/C] NM_006531,NM_175605 IFT88,IFT88 EXON Nonsense_R257X,Nonsense_R266X exm1055840 13 21173662 [A/G] NM_006531,NM_175605 IFT88,IFT88 EXON Missense_R257Q,Missense_R266Q exm1792256 13 21176071 [A/G] NM_006531,NM_175605 IFT88,IFT88 EXON Missense_S347N,Missense_S356N exm1055846 13 21189941 [A/G] NM_006531,NM_175605 IFT88,IFT88 EXON Missense_M374I,Missense_M383I exm2276283 13 21190016 [A/T] NM_006531,NM_175605 IFT88,IFT88 EXON Missense_D399E,Missense_D408E exm-rs7326068 13 21209512 [A/G] NM_006531,NM_175605 IFT88,IFT88 Silent,Silent exm1055864 13 21212606 [A/G] NM_006531,NM_175605 IFT88,IFT88 EXON Missense_K508E,Missense_K517E exm1055867 13 21215452 [T/C] NM_006531,NM_175605 IFT88,IFT88 EXON Missense_R533W,Missense_R542W exm1055868 13 21215459 [T/A] NM_006531,NM_175605 IFT88,IFT88 EXON Missense_D535V,Missense_D544V exm2221461 13 21215486 [T/C] NM_006531,NM_175605 IFT88,IFT88 EXON Missense_L544P,Missense_L553P exm1055870 13 21215491 [A/G] NM_006531,NM_175605 IFT88,IFT88 EXON Missense_A546T,Missense_A555T exm1055872 13 21215513 [A/C] NM_006531,NM_175605 IFT88,IFT88 EXON Missense_E553A,Missense_E562A exm1055880 13 21219030 [T/G] NM_006531,NM_175605 IFT88,IFT88 EXON Missense_A628S,Missense_A637S exm2221462 13 21228049 [A/G] NM_006531,NM_175605 IFT88,IFT88 EXON Missense_S662G,Missense_S671G exm1055884 13 21228053 [G/C] NM_006531,NM_175605 IFT88,IFT88 EXON Missense_C663S,Missense_C672S exm1055919 13 21265262 [A/C] NM_006531,NM_175605 IFT88,IFT88 EXON Missense_D808A,Missense_D817A exm1055937 13 21296036 [C/G] NM_138284 IL17D EXON Missense_I184M exm1055939 13 21296049 [A/G] NM_138284 IL17D EXON Missense_A189T exm1055958 13 21306070 [T/C] NM_174928 N6AMT2 EXON Missense_A140T exm1055981 13 21331685 [A/G] NM_174928 N6AMT2 EXON Missense_A18V exm1055985 13 21331719 [T/C] NM_174928 N6AMT2 EXON Missense_D7N exm1055995 13 21361123 [A/G] NM_022459 XPO4 EXON Missense_T1080M exm1056005 13 21370311 [T/C] NM_022459 XPO4 EXON Missense_V901I exm1056006 13 21370317 [A/T] NM_022459 XPO4 EXON Missense_I899L exm2221466 13 21383364 [T/C] NM_022459 XPO4 EXON Missense_T451A exm2251350 13 21395870 [A/G] NM_022459 XPO4 EXON Synonymous_F382F exm-rs2585897 13 21398979 [A/G] NM_022459 XPO4 Silent exm1056057 13 21401285 [A/G] NM_022459 XPO4 EXON Missense_S254L exm1056061 13 21417944 [T/C] NM_022459 XPO4 EXON Missense_M180V exm1056063 13 21429776 [T/C] NM_022459 XPO4 EXON Missense_N149S exm1056065 13 21429842 [A/G] NM_022459 XPO4 EXON Missense_S127L exm2267582 13 21517919 [A/G] exm2271907 13 21529256 [T/C] exm1056080 13 21549202 [A/G] NM_014572 LATS2 EXON Missense_L1025P exm1056083 13 21549235 [G/C] NM_014572 LATS2 EXON Missense_A1014G exm1056085 13 21549239 [T/C] NM_014572 LATS2 EXON Missense_D1013N exm1056086 13 21549259 [T/C] NM_014572 LATS2 EXON Missense_D1006G exm1056090 13 21549350 [T/C] NM_014572 LATS2 EXON Missense_I976V exm1792441 13 21549487 [T/C] NM_014572 LATS2 EXON Missense_N930S exm1056110 13 21555714 [C/G] NM_014572 LATS2 EXON Missense_D852E exm2221467 13 21557450 [T/C] NM_014572 LATS2 EXON Missense_I799V exm1056118 13 21557531 [T/C] NM_014572 LATS2 EXON Missense_I772V exm1056135 13 21562232 [T/C] NM_014572 LATS2 EXON Missense_G563R exm1056139 13 21562259 [T/C] NM_014572 LATS2 EXON Missense_G554S exm1056140 13 21562267 [A/G] NM_014572 LATS2 EXON Missense_P551L exm1056142 13 21562273 [T/C] NM_014572 LATS2 EXON Missense_N549S exm1056144 13 21562309 [T/C] NM_014572 LATS2 EXON Missense_C537Y exm1056148 13 21562346 [T/G] NM_014572 LATS2 EXON Missense_R525S exm1056168 13 21562792 [A/G] NM_014572 LATS2 EXON Missense_A376V exm1056171 13 21562832 [T/C] NM_014572 LATS2 EXON Missense_G363S exm1056191 13 21563311 [A/G] NM_014572 LATS2 EXON Missense_A203V exm1056193 13 21563347 [T/C] NM_014572 LATS2 EXON Missense_Y191C exm1056194 13 21563350 [C/G] NM_014572 LATS2 EXON Missense_P190R exm1056201 13 21563413 [T/C] NM_014572 LATS2 EXON Missense_R169Q exm1056204 13 21565434 [T/C] NM_014572 LATS2 EXON Missense_R151Q exm2251354 13 21707094 [T/C] exm1056249 13 21729252 [T/C] NM_145061,NM_001166017 SKA3,SKA3 EXON Missense_K426E,Missense_K386R exm1056250 13 21729267 [A/G] NM_145061,NM_001166017 SKA3,SKA3 EXON Missense_H421Y,Missense_T381I exm1056255 13 21729857 [A/G] NM_145061,NM_001166017 SKA3,SKA3 EXON Nonsense_R405X,Silent exm1056256 13 21729883 [A/C] NM_145061,NM_001166017 SKA3,SKA3 EXON Missense_R396M,Silent exm1056257 13 21729893 [A/G] NM_145061,NM_001166017 SKA3,SKA3 EXON Missense_P393S,Silent exm1056273 13 21732060 [C/G] NM_145061,NM_001166017 SKA3,SKA3 Silent,Silent exm1056276 13 21732137 [A/G] NM_145061,NM_001166017 SKA3,SKA3 EXON Missense_T348M,Missense_T348M exm1056279 13 21732175 [T/G] NM_145061,NM_001166017 SKA3,SKA3 EXON Missense_D335E,Missense_D335E exm1056293 13 21735928 [T/C] NM_145061,NM_001166017 SKA3,SKA3 Silent,Silent exm1056308 13 21742311 [T/C] NM_145061,NM_001166017 SKA3,SKA3 EXON Missense_V187I,Missense_V187I exm2274641 13 21742533 [T/C] NM_145061,NM_001166017 SKA3,SKA3 EXON Missense_E113K,Missense_E113K exm1056334 13 21746609 [A/G] NM_145061,NM_001166017 SKA3,SKA3 EXON Missense_L67S,Missense_L67S exm1056335 13 21746637 [T/C] NM_145061,NM_001166017 SKA3,SKA3 EXON Missense_V58I,Missense_V58I exm1056351 13 21751052 [T/C] NM_024026 MRP63 EXON Silent exm1056359 13 21751164 [T/C] NM_024026 MRP63 EXON Missense_R37C exm1056361 13 21751209 [T/C] NM_024026 MRP63 EXON Missense_P52S exm1056364 13 21751229 [T/G] NM_024026 MRP63 EXON Missense_Q58H exm2221468 13 21751335 [T/C] NM_024026 MRP63 EXON Missense_H94Y exm1056371 13 21751342 [A/G] NM_024026 MRP63 EXON Missense_N96S exm1056372 13 21751360 [C/G] NM_024026 MRP63 EXON Missense_S102C exm1056375 13 21955582 [T/C] NR_046461,NM_153251 MIPEPP3,ZDHHC20 EXON Silent,Missense_V350I exm1792580 13 21955624 [T/C] NR_046461,NM_153251 MIPEPP3,ZDHHC20 EXON Silent,Missense_S336G exm1056379 13 21955635 [T/C] NR_046461,NM_153251 MIPEPP3,ZDHHC20 EXON Silent,Missense_R332H exm1056385 13 21957120 [A/G] NR_046461,NM_153251 MIPEPP3,ZDHHC20 EXON Silent,Missense_R295C exm1056389 13 21961755 [A/G] NR_046461,NM_153251 MIPEPP3,ZDHHC20 EXON Silent,Missense_T249M exm1056398 13 21975824 [T/C] NM_153251 ZDHHC20 EXON Synonymous_S147S exm1056405 13 21987823 [A/G] NM_153251 ZDHHC20 EXON Missense_A113V exm2221471 13 22067438 [T/C] NM_152726 EFHA1 EXON Missense_I419V exm1056416 13 22067466 [T/G] NM_152726 EFHA1 EXON Missense_E409D exm1056423 13 22069456 [T/C] NM_152726 EFHA1 EXON Synonymous_A348A exm1056430 13 22070236 [T/C] NM_152726 EFHA1 EXON Missense_I333V exm1056434 13 22077081 [T/A] NM_152726 EFHA1 EXON Missense_K306M exm1056435 13 22077082 [A/T] NM_152726 EFHA1 EXON Nonsense_K306X exm1056439 13 22077136 [T/G] NM_152726 EFHA1 EXON Missense_L288I exm2221472 13 22084195 [A/G] NM_152726 EFHA1 EXON Missense_R237C exm1056455 13 22096751 [T/C] NM_152726 EFHA1 EXON Missense_I169V exm2221473 13 22141005 [T/C] NM_152726 EFHA1 EXON Missense_E97K exm1056470 13 22141038 [A/G] NM_152726 EFHA1 EXON Missense_R86C exm1056492 13 22246093 [C/G] NM_002010 FGF9 EXON Missense_Q14H exm1056504 13 22255183 [A/G] NM_002010 FGF9 EXON Missense_I94V exm2273503 13 22275946 [A/T] NM_002010 FGF9 EXON Silent exm-rs518590 13 22305099 [T/C] exm2271909 13 22317190 [T/C] exm-rs17369571 13 22487625 [A/G] exm2267583 13 22647183 [A/G] exm-rs7318731 13 22709670 [A/C] exm2260179 13 22960130 [A/G] exm-rs1034200 13 23228691 [A/C] exm2251361 13 23500297 [A/G] exm-rs17359176 13 23667334 [A/G] exm-rs4770394 13 23692978 [A/G] exm-rs9507041 13 23744379 [T/C] exm1056537 13 23777841 [A/G] NM_000231 SGCG EXON Missense_R3H exm1056539 13 23777927 [A/G] NM_000231 SGCG EXON Missense_R32G exm1056545 13 23777990 [T/C] NM_000231 SGCG EXON Missense_L53F exm1056547 13 23808766 [T/C] NM_000231 SGCG EXON Missense_L71S exm1056549 13 23808789 [T/C] NM_000231 SGCG EXON Missense_R79C exm1056554 13 23824818 [A/G] NM_000231 SGCG EXON Missense_R116H exm1056564 13 23853567 [T/C] NM_000231 SGCG EXON Missense_T152I exm1056567 13 23869555 [T/G] NM_000231 SGCG EXON Synonymous_G169G exm1056571 13 23869583 [A/G] NM_000231 SGCG EXON Missense_V179M exm1056572 13 23869587 [T/A] NM_000231 SGCG EXON Missense_E180V exm1056576 13 23894793 [A/G] NM_000231 SGCG EXON Missense_R199Q exm1056581 13 23898520 [T/C] NM_000231 SGCG EXON Missense_A239V exm1056585 13 23898607 [T/C] NM_000231 SGCG EXON Missense_P268L exm1056586 13 23898636 [A/G] NM_000231 SGCG EXON Missense_G278S exm1056587 13 23898664 [A/G] NM_000231 SGCG EXON Missense_N287S exm2273504 13 23903622 [A/G] NM_014363 SACS EXON Silent exm-rs4770433 13 23903791 [A/G] NM_014363 SACS EXON Silent exm1056594 13 23904298 [T/G] NM_014363 SACS EXON Missense_N4573H exm1056599 13 23904548 [C/G] NM_014363 SACS EXON Missense_D4489E exm1056620 13 23905366 [T/C] NM_014363 SACS EXON Missense_N4217D exm1056634 13 23905867 [A/G] NM_014363 SACS EXON Missense_F4050L exm1056635 13 23905912 [T/C] NM_014363 SACS EXON Missense_I4035V exm1056636 13 23905929 [C/G] NM_014363 SACS EXON Missense_A4029G exm1056641 13 23905987 [A/G] NM_014363 SACS EXON Nonsense_Q4010X exm1056671 13 23906983 [G/C] NM_014363 SACS EXON Missense_P3678A exm1056674 13 23907033 [A/G] NM_014363 SACS EXON Missense_A3661V exm1056677 13 23907043 [A/G] NM_014363 SACS EXON Missense_R3658W exm1792823 13 23907106 [T/C] NM_014363 SACS EXON Missense_M3637V exm1056683 13 23907119 [T/C] NM_014363 SACS EXON Missense_I3632M exm1056687 13 23907223 [T/G] NM_014363 SACS EXON Missense_Q3598K exm1056694 13 23907439 [T/C] NM_014363 SACS EXON Missense_I3526V exm1056705 13 23907717 [A/G] NM_014363 SACS EXON Missense_T3433I exm2276284 13 23907724 [C/G] NM_014363 SACS EXON Missense_V3431L exm1056706 13 23907741 [T/C] NM_014363 SACS EXON Missense_K3425R exm1056709 13 23907909 [A/G] NM_014363 SACS EXON Missense_V3369A exm1056725 13 23908237 [G/C] NM_014363 SACS EXON Missense_D3260H exm1056731 13 23908405 [T/C] NM_014363 SACS EXON Missense_K3204E exm1056732 13 23908453 [A/G] NM_014363 SACS EXON Missense_F3188L exm1792838 13 23908464 [T/C] NM_014363 SACS EXON Missense_R3184H exm1792840 13 23908716 [T/G] NM_014363 SACS EXON Missense_S3100Y exm1792841 13 23908732 [C/G] NM_014363 SACS EXON Missense_P3095A exm1056742 13 23908740 [T/A] NM_014363 SACS EXON Missense_Y3092F exm1056744 13 23908797 [T/C] NM_014363 SACS EXON Missense_C3073Y exm1056750 13 23909043 [T/C] NM_014363 SACS EXON Missense_R2991H exm1056755 13 23909142 [T/C] NM_014363 SACS EXON Missense_K2958R exm1056769 13 23909670 [A/G] NM_014363 SACS EXON Missense_A2782V exm1056770 13 23909671 [T/C] NM_014363 SACS EXON Missense_A2782T exm1056771 13 23909676 [A/C] NM_014363 SACS EXON Missense_F2780C exm1056774 13 23909770 [T/C] NM_014363 SACS EXON Missense_I2749V exm1056779 13 23909823 [T/C] NM_014363 SACS EXON Missense_R2731H exm1056784 13 23909888 [T/G] NM_014363 SACS EXON Missense_K2709N exm1056792 13 23910103 [A/G] NM_014363 SACS EXON Missense_F2638L exm1792849 13 23910290 [T/A] NM_014363 SACS EXON Synonymous_I2575I exm1056802 13 23910487 [T/C] NM_014363 SACS EXON Missense_A2510T exm1056807 13 23910631 [A/G] NM_014363 SACS EXON Missense_P2462S exm1056812 13 23910850 [T/C] NM_014363 SACS EXON Missense_V2389M exm2251363 13 23910866 [A/G] NM_014363 SACS EXON Synonymous_R2383R exm1056817 13 23911012 [T/C] NM_014363 SACS EXON Missense_M2335V exm1056820 13 23911063 [T/C] NM_014363 SACS EXON Missense_A2318T exm1056827 13 23911234 [T/G] NM_014363 SACS EXON Missense_L2261I exm1792858 13 23911237 [T/C] NM_014363 SACS EXON Missense_I2260V exm1056831 13 23911375 [A/G] NM_014363 SACS EXON Missense_R2214C exm1056846 13 23911679 [T/G] NM_014363 SACS EXON Missense_R2112S exm2251364 13 23911820 [A/G] NM_014363 SACS EXON Synonymous_I2065I exm1056858 13 23911964 [C/G] NM_014363 SACS EXON Missense_K2017N exm1056861 13 23912115 [A/G] NM_014363 SACS EXON Missense_I1967T exm1056871 13 23912432 [C/G] NM_014363 SACS EXON Missense_W1861C exm1056880 13 23912647 [T/C] NM_014363 SACS EXON Missense_A1790T exm1056893 13 23913030 [A/G] NM_014363 SACS EXON Missense_T1662M exm1792870 13 23913079 [T/G] NM_014363 SACS EXON Missense_L1646M exm1056905 13 23913258 [T/C] NM_014363 SACS EXON Missense_N1586S exm1056917 13 23913549 [T/C] NM_014363 SACS EXON Missense_N1489S exm1056922 13 23913760 [T/C] NM_014363 SACS EXON Missense_I1419V exm1056925 13 23913897 [A/G] NM_014363 SACS EXON Missense_A1373V exm1056926 13 23913898 [G/C] NM_014363 SACS EXON Missense_A1373P exm1056928 13 23913939 [A/G] NM_014363 SACS EXON Missense_M1359T exm1056930 13 23914000 [T/G] NM_014363 SACS EXON Missense_I1339L exm1056937 13 23914263 [A/G] NM_014363 SACS EXON Missense_I1251T exm1056949 13 23914572 [T/G] NM_014363 SACS EXON Missense_K1148T exm1056950 13 23914588 [T/G] NM_014363 SACS EXON Missense_Q1143K exm1056963 13 23914941 [T/A] NM_014363 SACS EXON Missense_N1025I exm1056970 13 23915032 [A/C] NM_014363 SACS EXON Missense_V995F exm1056981 13 23915265 [A/T] NM_014363 SACS EXON Missense_E917V exm1792878 13 23915299 [A/G] NM_014363 SACS EXON Missense_F906L exm1792879 13 23915372 [C/G] NM_014363 SACS EXON Missense_E881D exm1056988 13 23915413 [T/C] NM_014363 SACS EXON Missense_I868V exm1056998 13 23915518 [T/C] NM_014363 SACS EXON Missense_E833K exm1057009 13 23915721 [T/C] NM_014363 SACS EXON Missense_Y765C exm1057015 13 23927963 [A/G] NM_014363 SACS EXON Missense_H716Y exm1057019 13 23928671 [T/C] NM_014363 SACS EXON Missense_A694T exm1792889 13 23928845 [A/G] NM_014363 SACS EXON Missense_R636W exm1057029 13 23928866 [T/C] NM_014363 SACS EXON Missense_A629T exm1057044 13 23929205 [G/C] NM_014363 SACS EXON Missense_L516V exm1057045 13 23929207 [T/C] NM_014363 SACS EXON Missense_R515H exm1057048 13 23929307 [C/G] NM_014363 SACS EXON Missense_L482V exm1057050 13 23929373 [A/G] NM_014363 SACS EXON Missense_L460F exm1057052 13 23929378 [A/G] NM_014363 SACS EXON Missense_T458I exm1057056 13 23929473 [T/A] NM_014363 SACS EXON Missense_L426F exm1057061 13 23929532 [T/G] NM_014363 SACS EXON Missense_L407I exm1057063 13 23929628 [T/C] NM_014363 SACS EXON Missense_V375I exm1057066 13 23929684 [A/G] NM_014363 SACS EXON Missense_I356T exm1057067 13 23929685 [T/G] NM_014363 SACS EXON Missense_I356L exm1792895 13 23929725 [T/A] NM_014363 SACS EXON Missense_K342N exm1057069 13 23929778 [T/C] NM_014363 SACS EXON Missense_G325R exm1057075 13 23929941 [A/C] NM_014363 SACS EXON Missense_F270L exm1057078 13 23930055 [T/A] NM_014363 SACS EXON Missense_N232K exm1057090 13 23939323 [G/C] NM_014363 SACS EXON Missense_D147H exm2271911 13 23953924 [T/C] NM_014363 SACS Silent exm2267585 13 24014194 [A/G] exm-rs1572072 13 24127210 [T/G] exm1057109 13 24167505 [A/T] NM_148957,NM_001204459,NM_018647,NM_001204458 TNFRSF19,TNFRSF19,TNFRSF19,TNFRSF19 EXON Missense_S31T,Silent,Missense_S31T,Missense_S31T exm1057111 13 24167538 [T/C] NM_148957,NM_001204459,NM_018647,NM_001204458 TNFRSF19,TNFRSF19,TNFRSF19,TNFRSF19 EXON Missense_R42W,Silent,Missense_R42W,Missense_R42W exm1057112 13 24167539 [A/G] NM_148957,NM_001204459,NM_018647,NM_001204458 TNFRSF19,TNFRSF19,TNFRSF19,TNFRSF19 EXON Missense_R42Q,Silent,Missense_R42Q,Missense_R42Q exm1057133 13 24233219 [T/C] NM_148957,NM_001204459,NM_018647,NM_001204458 TNFRSF19,TNFRSF19,TNFRSF19,TNFRSF19 EXON Missense_A159V,Missense_A27V,Missense_A159V,Missense_A159V exm1057134 13 24233225 [T/C] NM_148957,NM_001204459,NM_018647,NM_001204458 TNFRSF19,TNFRSF19,TNFRSF19,TNFRSF19 EXON Missense_T161M,Missense_T29M,Missense_T161M,Missense_T161M exm1057138 13 24233302 [A/G] NM_148957,NM_001204459,NM_018647,NM_001204458 TNFRSF19,TNFRSF19,TNFRSF19,TNFRSF19 EXON Missense_I187V,Missense_I55V,Missense_I187V,Missense_I187V exm1057149 13 24234628 [T/C] NM_148957,NM_001204459,NM_018647,NM_001204458 TNFRSF19,TNFRSF19,TNFRSF19,TNFRSF19 EXON Synonymous_C245C,Synonymous_C113C,Synonymous_C245C,Synonymous_C245C exm1057151 13 24242142 [A/G] NM_148957,NM_001204459,NM_018647,NM_001204458 TNFRSF19,TNFRSF19,TNFRSF19,TNFRSF19 EXON Missense_M254V,Missense_M122V,Missense_M254V,Missense_M254V exm1057153 13 24242166 [T/C] NM_148957,NM_001204459,NM_018647,NM_001204458 TNFRSF19,TNFRSF19,TNFRSF19,TNFRSF19 EXON Missense_P262S,Missense_P130S,Missense_P262S,Missense_P262S exm1057155 13 24242842 [T/C] NM_148957,NM_001204459,NM_018647,NM_001204458 TNFRSF19,TNFRSF19,TNFRSF19,TNFRSF19 EXON Missense_P284L,Missense_P152L,Missense_P284L,Missense_P284L exm1057163 13 24243004 [A/G] NM_148957,NM_001204459,NM_018647,NM_001204458 TNFRSF19,TNFRSF19,TNFRSF19,TNFRSF19 EXON Missense_N338S,Missense_N206S,Missense_N338S,Missense_N338S exm1057166 13 24243081 [T/C] NM_148957,NM_001204459,NM_018647,NM_001204458 TNFRSF19,TNFRSF19,TNFRSF19,TNFRSF19 EXON Missense_S364P,Missense_S232P,Missense_S364P,Missense_S364P exm1057174 13 24243204 [A/G] NM_148957,NM_001204459,NM_018647,NM_001204458 TNFRSF19,TNFRSF19,TNFRSF19,TNFRSF19 EXON Missense_V405I,Missense_V273I,Missense_V405I,Missense_V405I exm1057175 13 24243211 [A/C] NM_148957,NM_001204459,NM_018647,NM_001204458 TNFRSF19,TNFRSF19,TNFRSF19,TNFRSF19 EXON Missense_H407P,Missense_H275P,Missense_H407P,Missense_H407P exm1057176 13 24243214 [T/C] NM_148957,NM_001204459,NM_018647,NM_001204458 TNFRSF19,TNFRSF19,TNFRSF19,TNFRSF19 EXON Missense_P408L,Missense_P276L,Missense_P408L,Missense_P408L exm1057178 13 24243246 [T/C] NM_148957,NM_001204459,NM_018647,NM_001204458 TNFRSF19,TNFRSF19,TNFRSF19,TNFRSF19 EXON Silent,Silent,Nonsense_R419X,Silent exm1057179 13 24243247 [A/G] NM_148957,NM_001204459,NM_018647,NM_001204458 TNFRSF19,TNFRSF19,TNFRSF19,TNFRSF19 EXON Silent,Silent,Missense_R419Q,Silent exm2267586 13 24284725 [A/G] exm-rs753955 13 24293859 [A/G] exm2267496 13 24294105 [A/G] exm1057206 13 24304584 [T/C] NM_005932 MIPEP EXON Missense_G682D exm1057212 13 24330743 [T/C] NM_005932 MIPEP EXON Missense_R662H exm1057213 13 24330744 [A/G] NM_005932 MIPEP EXON Missense_R662C exm1057218 13 24334281 [T/C] NM_005932 MIPEP EXON Missense_A642T exm1057221 13 24380114 [T/C] NM_005932 MIPEP EXON Missense_Y608C exm1057222 13 24380133 [T/C] NM_005932 MIPEP EXON Missense_E602K exm1057227 13 24384047 [A/G] NM_005932 MIPEP EXON Missense_M557T exm1057229 13 24410419 [T/C] NM_005932 MIPEP EXON Missense_R538Q exm1057241 13 24411724 [T/C] NM_005932 MIPEP EXON Missense_M504V exm1057243 13 24411772 [T/C] NM_005932 MIPEP EXON Missense_S488G exm1792964 13 24411792 [A/G] NM_005932 MIPEP EXON Missense_S481F exm1057249 13 24415494 [T/C] NM_005932 MIPEP EXON Missense_S414G exm-rs9318086 13 24432467 [A/G] NM_005932 MIPEP Silent exm1057261 13 24433009 [A/G] NM_005932 MIPEP EXON Missense_R366C exm1057262 13 24433041 [A/G] NM_005932 MIPEP EXON Missense_P355L exm1057263 13 24436441 [A/G] NM_005932 MIPEP EXON Synonymous_S351S exm1057264 13 24436449 [A/G] NM_005932 MIPEP EXON Nonsense_Q349X exm1057265 13 24436475 [T/C] NM_005932 MIPEP EXON Missense_R340Q exm1057275 13 24443512 [T/G] NM_005932 MIPEP EXON Missense_S288R exm1057280 13 24444195 [T/C] NM_005932 MIPEP EXON Missense_H248R exm1057283 13 24444267 [T/C] NM_005932 MIPEP EXON Missense_N224S exm1057284 13 24444319 [T/C] NM_005932 MIPEP EXON Missense_D207N exm1057286 13 24448998 [A/G] NM_005932 MIPEP EXON Missense_L197P exm1057287 13 24449046 [T/C] NM_005932 MIPEP EXON Missense_R181Q exm1057291 13 24453480 [T/C] NM_005932 MIPEP EXON Missense_V156M exm1792986 13 24460526 [A/C] NM_005932 MIPEP EXON Missense_Q103H exm1057302 13 24463276 [A/G] NM_005932,NM_001014442 MIPEP,C1QTNF9B-AS1 EXON Missense_R62C,Silent exm1057310 13 24463414 [A/C] NM_005932,NM_001014442 MIPEP,C1QTNF9B-AS1 EXON Missense_A16S,Silent exm1057327 13 24465574 [T/G] NM_001014442,NM_001135816,NM_001007537 C1QTNF9B-AS1,C1QTNF9B-AS1,C1QTNF9B EXON Silent,Missense_W6L,Missense_Q286K exm1057328 13 24465600 [T/C] NM_001014442,NM_001135816,NM_001007537 C1QTNF9B-AS1,C1QTNF9B-AS1,C1QTNF9B EXON Silent,Silent,Missense_R277K exm-rs2765086 13 24504955 [T/C] NR_073430 ANKRD20A19P Silent exm-rs17079773 13 24598384 [T/C] exm-rs9551080 13 24777773 [T/C] NM_001166271,NM_153023 SPATA13,SPATA13 Silent,Silent exm2221497 13 24797177 [A/C] NM_001166271,NM_153023 SPATA13,SPATA13 EXON Missense_K37T,Silent exm1057438 13 24797564 [T/C] NM_001166271,NM_153023 SPATA13,SPATA13 EXON Missense_P166L,Silent exm1057440 13 24797786 [A/G] NM_001166271,NM_153023 SPATA13,SPATA13 EXON Missense_R240K,Silent exm1057456 13 24798506 [T/C] NM_001166271,NM_153023 SPATA13,SPATA13 EXON Missense_P480L,Silent exm1057459 13 24798565 [A/G] NM_001166271,NM_153023 SPATA13,SPATA13 EXON Missense_E500K,Silent exm1057472 13 24823699 [A/G] NM_001166271,NM_153023 SPATA13,SPATA13 EXON Missense_G580S,Silent exm1057476 13 24823832 [A/C] NM_001166271,NM_153023 SPATA13,SPATA13 EXON Missense_A624E,Silent exm1057478 13 24823892 [A/C] NM_001166271,NM_153023 SPATA13,SPATA13 EXON Missense_A644D,Missense_A19D exm1057479 13 24823894 [T/C] NM_001166271,NM_153023 SPATA13,SPATA13 EXON Missense_R645W,Missense_R20W exm1057482 13 24823928 [T/C] NM_001166271,NM_153023 SPATA13,SPATA13 EXON Missense_V656A,Missense_V31A exm1057486 13 24823966 [A/G] NM_001166271,NM_153023 SPATA13,SPATA13 EXON Missense_N669D,Missense_N44D exm1057514 13 24858365 [G/C] NM_001166271,NM_153023 SPATA13,SPATA13 EXON Missense_P753A,Missense_P128A exm1057518 13 24858401 [A/G] NM_001166271,NM_153023 SPATA13,SPATA13 EXON Missense_I765V,Missense_I140V exm1057519 13 24858405 [A/G] NM_001166271,NM_153023 SPATA13,SPATA13 EXON Missense_N766S,Missense_N141S exm1057520 13 24860358 [A/G] NM_001166271,NM_153023 SPATA13,SPATA13 EXON Missense_S770G,Missense_S145G exm1057522 13 24860410 [A/G] NM_001166271,NM_153023 SPATA13,SPATA13 EXON Missense_D787G,Missense_D162G exm1057523 13 24860487 [T/C] NM_001166271,NM_153023 SPATA13,SPATA13 EXON Missense_R813C,Missense_R188C exm1057526 13 24860526 [A/G] NM_001166271,NM_153023 SPATA13,SPATA13 EXON Missense_V826I,Missense_V201I exm1057531 13 24860952 [A/G] NM_001166271,NM_153023 SPATA13,SPATA13 EXON Missense_S844N,Missense_S219N exm1057542 13 24863179 [A/G] NM_001166271,NM_153023 SPATA13,SPATA13 EXON Missense_V904I,Missense_V279I exm1057558 13 24865021 [A/G] NM_001166271,NM_153023 SPATA13,SPATA13 EXON Missense_G1027S,Missense_G402S exm1057563 13 24868888 [A/T] NM_001166271,NM_153023 SPATA13,SPATA13 EXON Missense_N1031I,Missense_N406I exm1057569 13 24868948 [A/G] NM_001166271,NM_153023 SPATA13,SPATA13 EXON Missense_R1051H,Missense_R426H exm1057571 13 24868973 [A/G] NM_001166271,NM_153023 SPATA13,SPATA13 EXON Missense_I1059M,Missense_I434M exm1057572 13 24868977 [T/C] NM_001166271,NM_153023 SPATA13,SPATA13 EXON Missense_R1061C,Missense_R436C exm1057577 13 24871505 [T/C] NM_001166271,NM_153023 SPATA13,SPATA13 EXON Missense_L1072P,Missense_L447P exm1057581 13 24871640 [A/G] NM_001166271,NM_153023 SPATA13,SPATA13 EXON Missense_R1117H,Missense_R492H exm1057601 13 24876904 [A/G] NM_001166271,NM_153023 SPATA13,SPATA13 EXON Missense_R1276Q,Missense_R651Q exm1057603 13 24890157 [T/C] NM_178540 C1QTNF9 EXON Missense_L6F exm2277048 13 24895617 [T/C] NM_178540 C1QTNF9 EXON Missense_A238V exm1057641 13 24895631 [A/T] NM_178540 C1QTNF9 EXON Missense_C243S exm1057660 13 24895899 [A/G] NM_178540 C1QTNF9 EXON Missense_S332N exm2271912 13 24963371 [T/C] exm1057667 13 25000617 [C/G] NM_006437 PARP4 EXON Missense_A1656P exm1793083 13 25000682 [A/T] NM_006437 PARP4 EXON Missense_Q1634L exm1057672 13 25000708 [T/G] NM_006437 PARP4 EXON Missense_D1625E exm1057679 13 25008588 [A/G] NM_006437 PARP4 EXON Missense_I1564T exm1057682 13 25008630 [A/G] NM_006437 PARP4 EXON Missense_L1550P exm2221502 13 25008645 [T/G] NM_006437 PARP4 EXON Missense_K1545T exm1057700 13 25009099 [A/C] NM_006437 PARP4 EXON Missense_S1394A exm1057702 13 25009125 [A/G] NM_006437 PARP4 EXON Missense_T1385I exm1057714 13 25009288 [T/C] NM_006437 PARP4 EXON Missense_A1331T exm1057716 13 25009297 [T/G] NM_006437 PARP4 EXON Missense_P1328T exm1057726 13 25009502 [T/A] NM_006437 PARP4 EXON Missense_E1259D exm1057738 13 25009613 [T/C] NM_006437 PARP4 Silent exm1057754 13 25016729 [T/C] NM_006437 PARP4 EXON Missense_R1181K exm1057767 13 25020863 [A/G] NM_006437 PARP4 EXON Missense_R1108C exm1057807 13 25026574 [A/G] NM_006437 PARP4 EXON Missense_P995L exm1057809 13 25026586 [T/C] NM_006437 PARP4 EXON Missense_K991R exm1057813 13 25026659 [A/G] NM_006437 PARP4 EXON Nonsense_R967X exm1057818 13 25027744 [A/G] NM_006437 PARP4 EXON Missense_M936T exm1057819 13 25027745 [T/C] NM_006437 PARP4 EXON Missense_M936V exm1057822 13 25027774 [A/G] NM_006437 PARP4 EXON Missense_S926L exm2251368 13 25029168 [T/G] NM_006437 PARP4 EXON Synonymous_I915I exm1057832 13 25029218 [T/C] NM_006437 PARP4 EXON Missense_A899T exm1057834 13 25029224 [C/G] NM_006437 PARP4 EXON Missense_Q897E exm1057837 13 25029295 [T/C] NM_006437 PARP4 EXON Missense_S873N exm1057849 13 25030612 [A/G] NM_006437 PARP4 EXON Missense_T810I exm1793132 13 25030615 [A/C] NM_006437 PARP4 EXON Missense_R809L exm1057851 13 25033198 [T/C] NM_006437 PARP4 EXON Missense_H803R exm1057854 13 25033231 [A/G] NM_006437 PARP4 EXON Missense_P792L exm1057864 13 25034237 [T/G] NM_006437 PARP4 EXON Missense_K724T exm1057868 13 25043163 [A/G] NM_006437 PARP4 EXON Missense_P711L exm1057906 13 25052289 [A/G] NM_006437 PARP4 EXON Missense_P525L exm2277049 13 25052321 [A/G] NM_006437 PARP4 EXON Synonymous_H514H exm1057908 13 25052337 [T/C] NM_006437 PARP4 EXON Missense_K509R exm1057912 13 25052376 [A/C] NM_006437 PARP4 EXON Missense_G496V exm1057941 13 25060445 [T/C] NM_006437 PARP4 Silent exm1057942 13 25064810 [A/G] NM_006437 PARP4 EXON Missense_H404Y exm1057947 13 25064916 [T/G] NM_006437 PARP4 EXON Missense_N368K exm1057953 13 25066593 [A/G] NM_006437 PARP4 EXON Missense_L340P exm1057971 13 25068800 [A/G] NM_006437 PARP4 EXON Missense_Y218H exm1057973 13 25068808 [A/T] NM_006437 PARP4 EXON Missense_F215Y exm1057975 13 25072259 [T/C] NM_006437 PARP4 EXON Missense_M196V exm1057977 13 25072298 [A/G] NM_006437 PARP4 EXON Missense_P183S exm1057993 13 25074490 [T/C] NM_006437 PARP4 EXON Missense_S122N exm1057994 13 25074503 [C/G] NM_006437 PARP4 EXON Missense_L118V exm1057999 13 25075864 [T/C] NM_006437 PARP4 EXON Missense_I81V exm1058001 13 25075900 [T/C] NM_006437 PARP4 EXON Missense_V69I exm1058002 13 25075912 [A/G] NM_006437 PARP4 EXON Nonsense_Q65X exm1058005 13 25075951 [T/C] NM_006437 PARP4 EXON Missense_N52D exm-rs9581094 13 25082630 [T/C] NM_006437 PARP4 Silent exm1058025 13 25255785 [A/G] NM_001185085,NM_001676 ATP12A,ATP12A EXON Missense_R32K,Missense_R32K exm1058031 13 25262530 [T/C] NM_001185085,NM_001676 ATP12A,ATP12A EXON Missense_T101M,Missense_T101M exm1793209 13 25262541 [A/G] NM_001185085,NM_001676 ATP12A,ATP12A EXON Missense_V105I,Missense_V105I exm1058044 13 25262619 [A/G] NM_001185085,NM_001676 ATP12A,ATP12A EXON Missense_G131R,Missense_G131R exm1058048 13 25262660 [T/C] NM_001185085,NM_001676 ATP12A,ATP12A EXON Synonymous_N144N,Synonymous_N144N exm1058050 13 25264485 [A/G] NM_001185085,NM_001676 ATP12A,ATP12A EXON Missense_V186I,Missense_V186I exm1058055 13 25264516 [A/C] NM_001185085,NM_001676 ATP12A,ATP12A EXON Missense_P196H,Missense_P196H exm1058057 13 25264542 [A/G] NM_001185085,NM_001676 ATP12A,ATP12A EXON Missense_I205V,Missense_I205V exm1058062 13 25264594 [A/C] NM_001185085,NM_001676 ATP12A,ATP12A EXON Missense_S222Y,Missense_S222Y exm1058064 13 25264609 [A/G] NM_001185085,NM_001676 ATP12A,ATP12A EXON Missense_R227Q,Missense_R227Q exm1058069 13 25264761 [T/C] NM_001185085,NM_001676 ATP12A,ATP12A EXON Missense_T234M,Missense_T234M exm1058070 13 25264781 [T/C] NM_001185085,NM_001676 ATP12A,ATP12A EXON Missense_P241S,Missense_P241S exm1058071 13 25264795 [A/G] NM_001185085,NM_001676 ATP12A,ATP12A EXON Synonymous_E245E,Synonymous_E245E exm1058074 13 25264847 [A/G] NM_001185085,NM_001676 ATP12A,ATP12A EXON Missense_T263A,Missense_T263A exm2221507 13 25265180 [T/C] NM_001185085,NM_001676 ATP12A,ATP12A EXON Missense_S293L,Missense_S287L exm1058091 13 25266577 [T/C] NM_001185085,NM_001676 ATP12A,ATP12A EXON Missense_S366L,Missense_S360L exm1058093 13 25266628 [A/G] NM_001185085,NM_001676 ATP12A,ATP12A EXON Missense_E383G,Missense_E377G exm1058098 13 25266679 [A/G] NM_001185085,NM_001676 ATP12A,ATP12A EXON Missense_G400E,Missense_G394E exm1058104 13 25266926 [C/G] NM_001185085,NM_001676 ATP12A,ATP12A EXON Missense_N429K,Missense_N423K exm1058110 13 25267017 [A/C] NM_001185085,NM_001676 ATP12A,ATP12A EXON Missense_N460H,Missense_N454H exm1058111 13 25267027 [T/G] NM_001185085,NM_001676 ATP12A,ATP12A EXON Missense_I463S,Missense_I457S exm1058115 13 25268672 [A/C] NM_001185085,NM_001676 ATP12A,ATP12A EXON Missense_R496S,Missense_R490S exm1058117 13 25272795 [A/G] NM_001185085,NM_001676 ATP12A,ATP12A Silent,Silent exm1058118 13 25272796 [T/C] NM_001185085,NM_001676 ATP12A,ATP12A EXON Missense_L511F,Missense_L505F exm1058120 13 25272826 [A/G] NM_001185085,NM_001676 ATP12A,ATP12A EXON Missense_G521S,Missense_G515S exm1058121 13 25272832 [T/C] NM_001185085,NM_001676 ATP12A,ATP12A EXON Missense_R523C,Missense_R517C exm1058122 13 25272833 [A/G] NM_001185085,NM_001676 ATP12A,ATP12A EXON Missense_R523H,Missense_R517H exm1058124 13 25272946 [A/G] NM_001185085,NM_001676 ATP12A,ATP12A EXON Missense_T561A,Missense_T555A exm1058132 13 25274946 [A/C] NM_001185085,NM_001676 ATP12A,ATP12A EXON Missense_D595E,Missense_D589E exm1058140 13 25276088 [A/G] NM_001185085,NM_001676 ATP12A,ATP12A EXON Missense_G639S,Missense_G633S exm1058149 13 25280464 [A/G] NM_001185085,NM_001676 ATP12A,ATP12A EXON Missense_A684T,Missense_A678T exm1058180 13 25283521 [T/C] NM_001185085,NM_001676 ATP12A,ATP12A EXON Missense_A844V,Missense_A838V exm1058184 13 25283596 [T/C] NM_001185085,NM_001676 ATP12A,ATP12A EXON Missense_P869L,Missense_P863L exm1058197 13 25284616 [T/C] NM_001185085,NM_001676 ATP12A,ATP12A EXON Missense_Y934H,Missense_Y928H exm1058209 13 25285479 [T/G] NM_001185085,NM_001676 ATP12A,ATP12A EXON Missense_V1014G,Missense_V1008G exm1058212 13 25285502 [A/G] NM_001185085,NM_001676 ATP12A,ATP12A EXON Missense_V1022M,Missense_V1016M exm1058213 13 25285517 [T/C] NM_001185085,NM_001676 ATP12A,ATP12A EXON Missense_R1027W,Missense_R1021W exm2251370 13 25287214 [A/G] exm1058230 13 25338433 [A/C] NM_031277,NM_001184993 RNF17,RNF17 EXON Missense_Q31P,Missense_Q31P exm1058231 13 25338442 [C/G] NM_031277,NM_001184993 RNF17,RNF17 EXON Missense_R34T,Missense_R34T exm1058274 13 25367269 [T/C] NM_031277,NM_001184993 RNF17,RNF17 EXON Missense_P342L,Missense_P342L exm1058275 13 25367282 [A/C] NM_031277,NM_001184993 RNF17,RNF17 EXON Missense_K346N,Missense_K346N exm1058276 13 25367292 [A/G] NM_031277,NM_001184993 RNF17,RNF17 EXON Missense_M350V,Missense_M350V exm1058279 13 25367325 [T/C] NM_031277,NM_001184993 RNF17,RNF17 EXON Missense_P361S,Missense_P361S exm1058280 13 25367344 [A/G] NM_031277,NM_001184993 RNF17,RNF17 EXON Missense_N367S,Missense_N367S exm1058283 13 25367388 [A/G] NM_031277,NM_001184993 RNF17,RNF17 EXON Missense_V382I,Missense_V382I exm1058286 13 25370355 [A/G] NM_031277,NM_001184993 RNF17,RNF17 EXON Missense_A441T,Missense_A441T exm1058296 13 25373634 [A/G] NM_031277,NM_001184993 RNF17,RNF17 EXON Missense_S501G,Missense_S501G exm1058297 13 25373640 [A/G] NM_031277,NM_001184993 RNF17,RNF17 EXON Missense_T503A,Missense_T503A exm1058301 13 25374515 [T/C] NM_031277,NM_001184993 RNF17,RNF17 EXON Missense_T534I,Missense_T534I exm1058303 13 25374538 [T/G] NM_031277,NM_001184993 RNF17,RNF17 EXON Missense_A542S,Missense_A542S exm1058311 13 25376643 [T/C] NM_031277,NM_001184993 RNF17,RNF17 EXON Missense_P628L,Missense_P628L exm1058314 13 25378433 [A/T] NM_031277,NM_001184993 RNF17,RNF17 EXON Missense_S653T,Missense_S653T exm1058315 13 25378476 [A/G] NM_031277,NM_001184993 RNF17,RNF17 EXON Missense_H667R,Missense_H667R exm1058324 13 25404696 [A/G] NM_031277,NM_001184993 RNF17,RNF17 EXON Missense_V774M,Missense_V774M exm1058332 13 25416232 [T/C] NM_031277,NM_001184993 RNF17,RNF17 EXON Missense_P846S,Missense_P846S exm1058335 13 25417907 [A/G] NM_031277,NM_001184993 RNF17,RNF17 EXON Missense_K877E,Missense_K877E exm1058343 13 25424561 [A/G] NM_031277,NM_001184993 RNF17,RNF17 EXON Missense_I1062V,Missense_I1062V exm1058344 13 25424583 [T/C] NM_031277,NM_001184993 RNF17,RNF17 Silent,Silent exm1058349 13 25428002 [A/C] NM_031277,NM_001184993 RNF17,RNF17 EXON Missense_N1110K,Missense_N1106K exm1058353 13 25428081 [A/G] NM_031277,NM_001184993 RNF17,RNF17 EXON Missense_I1137V,Missense_I1133V exm1058354 13 25428090 [A/G] NM_031277,NM_001184993 RNF17,RNF17 EXON Missense_N1140D,Missense_N1136D exm1793325 13 25428173 [T/A] NM_031277,NM_001184993 RNF17,RNF17 EXON Missense_R1167S,Missense_R1163S exm1058359 13 25428243 [T/G] NM_031277,NM_001184993 RNF17,RNF17 EXON Missense_G1191C,Missense_G1187C exm1058360 13 25433187 [A/G] NM_031277,NM_001184993 RNF17,RNF17 EXON Missense_C1220Y,Missense_C1216Y exm1058361 13 25433204 [A/C] NM_031277,NM_001184993 RNF17,RNF17 EXON Missense_P1226T,Missense_P1222T exm1058379 13 25440318 [A/G] NM_031277,NM_001184993 RNF17,RNF17 EXON Missense_E1380K,Missense_E1376K exm1058380 13 25440340 [A/G] NM_031277,NM_001184993 RNF17,RNF17 EXON Missense_E1387G,Missense_E1383G exm2221512 13 25444744 [C/G] NM_031277,NM_001184993 RNF17,RNF17 EXON Missense_N1438K,Missense_N1434K exm1058391 13 25444818 [T/C] NM_031277,NM_001184993 RNF17,RNF17 EXON Missense_A1463V,Missense_A1459V exm1058397 13 25448335 [A/G] NM_031277,NM_001184993 RNF17,RNF17 EXON Missense_I1511V,Missense_I1507V exm1058410 13 25453409 [T/G] NM_031277,NM_001184993 RNF17,RNF17 EXON Missense_D1620Y,Missense_D1616Y exm1058418 13 25457410 [T/C] NR_047595,NR_047594,NM_018451 CENPJ,CENPJ,CENPJ EXON Silent,Silent,Missense_V1308I exm1058419 13 25457412 [A/G] NR_047595,NR_047594,NM_018451 CENPJ,CENPJ,CENPJ EXON Silent,Silent,Missense_T1307I exm1058429 13 25458122 [T/C] NR_047595,NR_047594,NM_018451 CENPJ,CENPJ,CENPJ EXON Silent,Silent,Missense_G1268D exm1058432 13 25458349 [A/G] NR_047595,NR_047594,NM_018451 CENPJ,CENPJ,CENPJ EXON Silent,Silent,Missense_T1218M exm1058435 13 25458381 [C/G] NR_047595,NR_047594,NM_018451 CENPJ,CENPJ,CENPJ EXON Silent,Silent,Missense_I1207M exm1058439 13 25458559 [T/G] NR_047595,NR_047594,NM_018451 CENPJ,CENPJ,CENPJ EXON Silent,Silent,Missense_P1174T exm1058450 13 25459805 [T/C] NR_047595,NR_047594,NM_018451 CENPJ,CENPJ,CENPJ EXON Silent,Silent,Missense_N1102S exm2271999 13 25461229 [T/C] NR_047595,NR_047594,NM_018451 CENPJ,CENPJ,CENPJ Silent,Silent,Silent exm2221514 13 25466781 [T/C] NR_047595,NR_047594,NM_018451 CENPJ,CENPJ,CENPJ EXON Silent,Silent,Synonymous_A1072A exm1058465 13 25473696 [T/C] NR_047595,NR_047594,NM_018451 CENPJ,CENPJ,CENPJ EXON Silent,Silent,Missense_Q951R exm1793379 13 25478083 [T/C] NR_047595,NR_047594,NM_018451 CENPJ,CENPJ,CENPJ EXON Silent,Silent,Missense_S936G exm1058468 13 25478104 [T/C] NR_047595,NR_047594,NM_018451 CENPJ,CENPJ,CENPJ EXON Silent,Silent,Missense_K929E exm1058470 13 25479541 [A/C] NR_047595,NR_047594,NM_018451 CENPJ,CENPJ,CENPJ EXON Silent,Silent,Missense_S879A exm1058471 13 25479542 [G/C] NR_047595,NR_047594,NM_018451 CENPJ,CENPJ,CENPJ EXON Silent,Silent,Missense_K878N exm1058473 13 25479605 [C/G] NR_047595,NR_047594,NM_018451 CENPJ,CENPJ,CENPJ EXON Silent,Silent,Missense_S857R exm1058478 13 25479706 [A/T] NR_047595,NR_047594,NM_018451 CENPJ,CENPJ,CENPJ EXON Silent,Silent,Missense_T824S exm1058479 13 25479714 [A/G] NR_047595,NR_047594,NM_018451 CENPJ,CENPJ,CENPJ EXON Silent,Silent,Missense_T821M exm1058480 13 25479744 [A/T] NR_047595,NR_047594,NM_018451 CENPJ,CENPJ,CENPJ EXON Silent,Silent,Missense_V811D exm1058482 13 25479878 [T/A] NR_047595,NR_047594,NM_018451 CENPJ,CENPJ,CENPJ EXON Silent,Silent,Missense_D766E exm1058483 13 25479890 [A/C] NR_047595,NR_047594,NM_018451 CENPJ,CENPJ,CENPJ EXON Silent,Silent,Missense_D762E exm1058489 13 25480216 [T/C] NR_047595,NR_047594,NM_018451 CENPJ,CENPJ,CENPJ EXON Silent,Silent,Missense_A654T exm1058493 13 25480341 [T/C] NR_047595,NR_047594,NM_018451 CENPJ,CENPJ,CENPJ EXON Silent,Silent,Missense_R612Q exm1058499 13 25480480 [A/G] NR_047595,NR_047594,NM_018451 CENPJ,CENPJ,CENPJ EXON Silent,Silent,Nonsense_R566X exm1058508 13 25480590 [G/C] NR_047595,NR_047594,NM_018451 CENPJ,CENPJ,CENPJ EXON Silent,Silent,Nonsense_S529X exm1058514 13 25480663 [T/C] NR_047595,NR_047594,NM_018451 CENPJ,CENPJ,CENPJ EXON Silent,Silent,Missense_E505K exm1058516 13 25480715 [G/C] NR_047595,NR_047594,NM_018451 CENPJ,CENPJ,CENPJ EXON Silent,Silent,Missense_D487E exm1058518 13 25480746 [A/G] NR_047595,NR_047594,NM_018451 CENPJ,CENPJ,CENPJ EXON Silent,Silent,Missense_T477M exm1058520 13 25480767 [A/G] NR_047595,NR_047594,NM_018451 CENPJ,CENPJ,CENPJ EXON Silent,Silent,Missense_P470L exm1058524 13 25480913 [G/C] NR_047595,NR_047594,NM_018451 CENPJ,CENPJ,CENPJ EXON Silent,Silent,Missense_Q421H exm1058528 13 25480945 [A/G] NR_047595,NR_047594,NM_018451 CENPJ,CENPJ,CENPJ EXON Silent,Silent,Missense_P411S exm1058540 13 25481285 [A/C] NR_047595,NR_047594,NM_018451 CENPJ,CENPJ,CENPJ EXON Silent,Silent,Missense_Y341D exm1058548 13 25483942 [T/C] NR_047595,NR_047594,NM_018451 CENPJ,CENPJ,CENPJ EXON Silent,Silent,Missense_R284H exm1058549 13 25483943 [A/G] NR_047595,NR_047594,NM_018451 CENPJ,CENPJ,CENPJ EXON Silent,Silent,Missense_R284C exm1793390 13 25484030 [T/C] NR_047595,NR_047594,NM_018451 CENPJ,CENPJ,CENPJ EXON Silent,Silent,Missense_T255A exm1058557 13 25484137 [A/G] NR_047595,NR_047594,NM_018451 CENPJ,CENPJ,CENPJ EXON Silent,Silent,Missense_P219L exm1058558 13 25484147 [A/G] NR_047595,NR_047594,NM_018451 CENPJ,CENPJ,CENPJ EXON Silent,Silent,Missense_C216R exm1058561 13 25484171 [T/C] NR_047595,NR_047594,NM_018451 CENPJ,CENPJ,CENPJ EXON Silent,Silent,Missense_T208A exm1058568 13 25486200 [T/C] NR_047595,NR_047594,NM_018451 CENPJ,CENPJ,CENPJ EXON Silent,Silent,Missense_E151G exm1793394 13 25486775 [T/G] NR_047595,NR_047594,NM_018451 CENPJ,CENPJ,CENPJ EXON Silent,Silent,Missense_A130E exm1058571 13 25486788 [T/G] NR_047595,NR_047594,NM_018451 CENPJ,CENPJ,CENPJ EXON Silent,Silent,Missense_I126L exm1058574 13 25486875 [T/C] NR_047595,NR_047594,NM_018451 CENPJ,CENPJ,CENPJ EXON Silent,Silent,Missense_T97A exm1058575 13 25486877 [T/C] NR_047595,NR_047594,NM_018451 CENPJ,CENPJ,CENPJ EXON Silent,Silent,Missense_H96R exm1058578 13 25486911 [T/G] NR_047595,NR_047594,NM_018451 CENPJ,CENPJ,CENPJ EXON Silent,Silent,Missense_P85T exm1058579 13 25486944 [C/G] NR_047595,NR_047594,NM_018451 CENPJ,CENPJ,CENPJ EXON Silent,Silent,Missense_L74V exm1058581 13 25486977 [C/G] NR_047595,NR_047594,NM_018451 CENPJ,CENPJ,CENPJ EXON Silent,Silent,Missense_D63H exm1058582 13 25486989 [T/C] NR_047595,NR_047594,NM_018451 CENPJ,CENPJ,CENPJ EXON Silent,Silent,Missense_T59A exm1058583 13 25487001 [G/C] NR_047595,NR_047594,NM_018451 CENPJ,CENPJ,CENPJ EXON Silent,Silent,Missense_P55A exm1058584 13 25487096 [T/C] NR_047595,NR_047594,NM_018451 CENPJ,CENPJ,CENPJ EXON Silent,Silent,Missense_N23S exm1058585 13 25487103 [T/C] NR_047595,NR_047594,NM_018451 CENPJ,CENPJ,CENPJ EXON Silent,Silent,Missense_M21V exm1058595 13 25670379 [A/G] NM_030979 PABPC3 EXON Missense_V15M exm1058612 13 25670676 [A/G] NM_030979 PABPC3 EXON Missense_A114T exm2221519 13 25670787 [A/G] NM_030979 PABPC3 EXON Missense_A151T exm1058622 13 25670797 [G/C] NM_030979 PABPC3 EXON Missense_A154G exm1058624 13 25670814 [A/G] NM_030979 PABPC3 EXON Missense_G160R exm1058626 13 25670833 [A/G] NM_030979 PABPC3 EXON Missense_R166H exm1058630 13 25670877 [A/G] NM_030979 PABPC3 EXON Missense_A181T exm1058645 13 25671015 [A/G] NM_030979 PABPC3 EXON Missense_S227G exm1058668 13 25671226 [A/G] NM_030979 PABPC3 EXON Missense_Y297C exm1058682 13 25671576 [A/G] NM_030979 PABPC3 EXON Missense_A414T exm1058696 13 25671714 [A/G] NM_030979 PABPC3 EXON Missense_M460V exm1793424 13 25671820 [T/C] NM_030979 PABPC3 EXON Missense_A495V exm1058709 13 25671826 [T/C] NM_030979 PABPC3 EXON Missense_T497I exm1058713 13 25671941 [A/C] NM_030979 PABPC3 EXON Missense_Q535H exm1058716 13 25671978 [A/G] NM_030979 PABPC3 EXON Missense_A548T exm1058720 13 25672102 [T/C] NM_030979 PABPC3 EXON Missense_L589P exm2267498 13 25713522 [A/G] exm1058736 13 25743748 [G/C] NM_152704,NM_199138 AMER2,AMER2 EXON Missense_K670N,Missense_K551N exm1058737 13 25743781 [G/C] NM_152704,NM_199138 AMER2,AMER2 EXON Missense_I659M,Missense_I540M exm1793446 13 25743803 [T/C] NM_152704,NM_199138 AMER2,AMER2 EXON Missense_R652Q,Missense_R533Q exm1058748 13 25744055 [A/G] NM_152704,NM_199138 AMER2,AMER2 EXON Missense_T568I,Missense_T449I exm1058754 13 25744148 [A/G] NM_152704,NM_199138 AMER2,AMER2 EXON Missense_S537L,Missense_S418L exm1058761 13 25744304 [T/G] NM_152704,NM_199138 AMER2,AMER2 EXON Missense_A485E,Missense_A366E exm1058779 13 25744615 [A/C] NM_152704,NM_199138 AMER2,AMER2 EXON Missense_C381W,Missense_C262W exm1058780 13 25744626 [T/G] NM_152704,NM_199138 AMER2,AMER2 EXON Missense_L378I,Silent exm1058783 13 25744685 [A/G] NM_152704,NM_199138 AMER2,AMER2 EXON Missense_S358L,Silent exm1058803 13 25745172 [T/C] NM_152704,NM_199138 AMER2,AMER2 EXON Missense_G196R,Missense_G196R exm1793457 13 25745639 [A/G] NM_152704,NM_199138 AMER2,AMER2 EXON Missense_A40V,Missense_A40V exm1058817 13 25745645 [A/G] NM_152704,NM_199138 AMER2,AMER2 EXON Missense_T38I,Missense_T38I exm1058824 13 25823441 [T/C] NM_004685 MTMR6 EXON Missense_A599T exm1058829 13 25825817 [T/G] NM_004685 MTMR6 EXON Missense_Q525H exm1058839 13 25828007 [T/G] NM_004685 MTMR6 EXON Missense_A414D exm1058847 13 25831336 [T/C] NM_004685 MTMR6 EXON Missense_M365V exm1058856 13 25831888 [T/C] NM_004685 MTMR6 EXON Missense_I319V exm1058863 13 25835826 [T/C] NM_004685 MTMR6 EXON Missense_V236I exm1058866 13 25835847 [G/C] NM_004685 MTMR6 EXON Missense_P229A exm1058871 13 25839959 [T/C] NM_004685 MTMR6 EXON Missense_E197K exm1058872 13 25839965 [T/C] NM_004685 MTMR6 EXON Missense_D195N exm1058880 13 25840277 [T/C] NM_004685 MTMR6 EXON Missense_R151Q exm1058884 13 25840338 [T/C] NM_004685 MTMR6 EXON Missense_A131T exm1793481 13 25840379 [T/C] NM_004685 MTMR6 EXON Missense_N117S exm1058888 13 25841953 [T/C] NM_004685 MTMR6 EXON Missense_D90N exm1058891 13 25842016 [G/C] NM_004685 MTMR6 EXON Missense_V69L exm1058897 13 25848285 [T/C] NM_004685 MTMR6 EXON Missense_N22S exm1058910 13 25876011 [A/G] NM_001008564,NM_014089 NUPL1,NUPL1 EXON Missense_A34T,Missense_A34T exm1058913 13 25882049 [A/C] NM_001008564,NM_014089 NUPL1,NUPL1 EXON Missense_K71N,Missense_K71N exm1058919 13 25887072 [A/G] NM_001008564,NM_014089 NUPL1,NUPL1 EXON Missense_N101S,Missense_N113S exm1058936 13 25887811 [T/C] NM_001008564,NM_014089 NUPL1,NUPL1 EXON Missense_S154P,Missense_S166P exm1058943 13 25889495 [A/G] NM_001008564,NM_014089 NUPL1,NUPL1 EXON Missense_G180E,Missense_G192E exm1058945 13 25889543 [A/C] NM_001008564,NM_014089 NUPL1,NUPL1 EXON Missense_T196N,Missense_T208N exm1793501 13 25889570 [A/G] NM_001008564,NM_014089 NUPL1,NUPL1 EXON Missense_G205D,Missense_G217D exm1058949 13 25893488 [A/G] NM_001008564,NM_014089 NUPL1,NUPL1 EXON Missense_E225G,Missense_E237G exm1058952 13 25894688 [A/G] NM_001008564,NM_014089 NUPL1,NUPL1 EXON Missense_D232G,Missense_D244G exm2272000 13 25900838 [T/C] NM_001008564,NM_014089 NUPL1,NUPL1 Silent,Silent exm1793516 13 25905530 [A/G] NM_001008564,NM_014089 NUPL1,NUPL1 EXON Missense_M411I,Missense_M423I exm1058971 13 25905568 [A/G] NM_001008564,NM_014089 NUPL1,NUPL1 EXON Missense_R424Q,Missense_R436Q exm1058975 13 25905651 [A/G] NM_001008564,NM_014089 NUPL1,NUPL1 EXON Missense_V452I,Missense_V464I exm1059001 13 25946418 [C/G] NM_016529 ATP8A2 EXON Missense_S23W exm1059004 13 26043115 [A/G] NM_016529 ATP8A2 EXON Missense_G26E exm1059016 13 26104707 [G/C] NM_016529 ATP8A2 EXON Missense_P110R exm1059065 13 26138165 [A/G] NM_016529 ATP8A2 EXON Missense_R490H exm1059077 13 26151251 [A/G] NM_016529 ATP8A2 EXON Missense_R586Q exm1059092 13 26156087 [T/C] NM_016529 ATP8A2 EXON Missense_I713T exm1059100 13 26273377 [A/G] NM_016529 ATP8A2 EXON Missense_V760M exm1059107 13 26273432 [A/G] NM_016529 ATP8A2 EXON Missense_R778Q exm1059110 13 26343242 [A/G] NM_016529 ATP8A2 EXON Missense_I815V exm2221532 13 26343272 [A/G] NM_016529 ATP8A2 EXON Missense_D825N exm2267499 13 26367349 [A/G] NM_016529 ATP8A2 Silent exm1059148 13 26434998 [A/G] NM_016529 ATP8A2 EXON Synonymous_K1025K exm2274643 13 26535734 [A/G] NM_016529 ATP8A2 EXON Missense_A1069T exm1059158 13 26535801 [T/C] NM_016529 ATP8A2 EXON Missense_A1091V exm2271913 13 26538455 [T/C] NM_016529 ATP8A2 Silent exm1059179 13 26620737 [T/C] NM_001007538 SHISA2 EXON Missense_G268S exm1059195 13 26620961 [A/G] NM_001007538 SHISA2 EXON Missense_S193L exm1059198 13 26621004 [A/G] NM_001007538 SHISA2 EXON Missense_R179C exm1059202 13 26621018 [T/C] NM_001007538 SHISA2 EXON Missense_R174Q exm-rs12430350 13 26755384 [T/C] exm1059236 13 26788151 [T/C] NM_183043,NM_183044,NM_005977 RNF6,RNF6,RNF6 EXON Missense_S623N,Missense_S623N,Missense_S623N exm1059238 13 26788208 [T/C] NM_183043,NM_183044,NM_005977 RNF6,RNF6,RNF6 EXON Missense_R604H,Missense_R604H,Missense_R604H exm1059241 13 26788304 [T/C] NM_183043,NM_183044,NM_005977 RNF6,RNF6,RNF6 EXON Missense_R572Q,Missense_R572Q,Missense_R572Q exm1059243 13 26788338 [G/C] NM_183043,NM_183044,NM_005977 RNF6,RNF6,RNF6 EXON Missense_R561G,Missense_R561G,Missense_R561G exm1059246 13 26788394 [T/G] NM_183043,NM_183044,NM_005977 RNF6,RNF6,RNF6 EXON Missense_A542D,Missense_A542D,Missense_A542D exm1793738 13 26788496 [C/G] NM_183043,NM_183044,NM_005977 RNF6,RNF6,RNF6 EXON Missense_R508T,Missense_R508T,Missense_R508T exm1059257 13 26788799 [T/C] NM_183043,NM_183044,NM_005977 RNF6,RNF6,RNF6 EXON Missense_R407H,Missense_R407H,Missense_R407H exm1059264 13 26788993 [C/G] NM_183043,NM_183044,NM_005977 RNF6,RNF6,RNF6 EXON Missense_R342S,Missense_R342S,Missense_R342S exm1059268 13 26789096 [T/C] NM_183043,NM_183044,NM_005977 RNF6,RNF6,RNF6 EXON Missense_N308S,Missense_N308S,Missense_N308S exm1059271 13 26789127 [A/C] NM_183043,NM_183044,NM_005977 RNF6,RNF6,RNF6 EXON Missense_L298V,Missense_L298V,Missense_L298V exm1059274 13 26789231 [T/C] NM_183043,NM_183044,NM_005977 RNF6,RNF6,RNF6 EXON Missense_G263D,Missense_G263D,Missense_G263D exm1059281 13 26789411 [A/T] NM_183043,NM_183044,NM_005977 RNF6,RNF6,RNF6 EXON Missense_V203E,Missense_V203E,Missense_V203E exm1059282 13 26789432 [T/C] NM_183043,NM_183044,NM_005977 RNF6,RNF6,RNF6 EXON Missense_R196Q,Missense_R196Q,Missense_R196Q exm1059290 13 26789528 [A/G] NM_183043,NM_183044,NM_005977 RNF6,RNF6,RNF6 EXON Missense_I164T,Missense_I164T,Missense_I164T exm1059306 13 26793644 [T/C] NM_183043,NM_183044,NM_005977 RNF6,RNF6,RNF6 EXON Missense_N48S,Missense_N48S,Missense_N48S exm2267587 13 26983382 [A/G] exm2267500 13 27188563 [A/G] NM_006646 WASF3 Silent exm1059346 13 27216439 [G/C] NM_006646 WASF3 EXON Missense_R11P exm1059351 13 27216516 [A/G] NM_006646 WASF3 EXON Missense_I37V exm1059352 13 27216522 [T/C] NM_006646 WASF3 EXON Missense_R39C exm1059359 13 27239182 [A/G] NM_006646 WASF3 EXON Missense_I51V exm1059364 13 27241734 [A/G] NM_006646 WASF3 EXON Missense_I117V exm1059366 13 27241782 [A/C] NM_006646 WASF3 EXON Missense_P133T exm1059367 13 27241791 [A/G] NM_006646 WASF3 EXON Missense_I136V exm2276288 13 27250805 [A/G] NM_006646 WASF3 EXON Synonymous_L220L exm1059375 13 27250812 [T/A] NM_006646 WASF3 EXON Missense_S223C exm1059385 13 27255207 [A/G] NM_006646 WASF3 EXON Missense_V245I exm1059386 13 27255226 [T/C] NM_006646 WASF3 EXON Missense_P251L exm1059417 13 27256902 [G/C] NM_006646 WASF3 EXON Missense_A381G exm1059428 13 27257004 [T/C] NM_006646 WASF3 EXON Missense_S415L exm1059434 13 27257069 [A/G] NM_006646 WASF3 EXON Missense_I437V exm2267588 13 27274270 [A/G] exm1059458 13 27333463 [A/C] NM_005288 GPR12 EXON Missense_S168A exm1059464 13 27333576 [T/C] NM_005288 GPR12 EXON Missense_S130N exm1059465 13 27333604 [T/C] NM_005288 GPR12 EXON Missense_V121I exm1059472 13 27333859 [A/C] NM_005288 GPR12 EXON Missense_V36L exm-rs9319321 13 27415673 [A/T] exm2251378 13 27432051 [A/G] exm-rs17085007 13 27531267 [T/C] exm-rs7336806 13 27589593 [T/C] exm1059518 13 27745758 [T/C] NM_182488 USP12 EXON Missense_V7I exm1059571 13 27847404 [A/G] NM_206827 RASL11A EXON Missense_E168K exm1059580 13 27847491 [A/G] NM_206827 RASL11A EXON Missense_S197G exm-rs10507380 13 27879526 [A/G] exm-rs9512637 13 27920611 [T/C] exm1059604 13 28001305 [T/C] NM_002097 GTF3A EXON Missense_T93I exm1059606 13 28004018 [A/C] NM_002097 GTF3A EXON Missense_N105T exm1059609 13 28004098 [T/C] NM_002097 GTF3A EXON Missense_Y132H exm1059611 13 28004692 [A/C] NM_002097 GTF3A EXON Missense_K141T exm1059623 13 28008942 [A/G] NM_002097 GTF3A EXON Missense_E215G exm1059624 13 28008980 [T/C] NM_002097 GTF3A EXON Missense_R228C exm1059629 13 28009031 [G/C] NM_002097 GTF3A EXON Missense_V245L exm1059635 13 28009660 [T/G] NM_002097 GTF3A EXON Missense_C342G exm1059642 13 28009885 [T/G] NM_001166261,NM_001166262,NM_001166263,NM_152912 MTIF3,MTIF3,MTIF3,MTIF3 EXON Missense_Q255P,Missense_Q255P,Missense_Q255P,Missense_Q255P exm1059648 13 28009963 [A/G] NM_001166261,NM_001166262,NM_001166263,NM_152912 MTIF3,MTIF3,MTIF3,MTIF3 EXON Missense_A229V,Missense_A229V,Missense_A229V,Missense_A229V exm1059656 13 28014167 [T/C] NM_001166261,NM_001166262,NM_001166263,NM_152912 MTIF3,MTIF3,MTIF3,MTIF3 EXON Missense_R140Q,Missense_R140Q,Missense_R140Q,Missense_R140Q exm1059657 13 28014173 [T/C] NM_001166261,NM_001166262,NM_001166263,NM_152912 MTIF3,MTIF3,MTIF3,MTIF3 EXON Missense_Q138R,Missense_Q138R,Missense_Q138R,Missense_Q138R exm1059659 13 28014332 [T/C] NM_001166261,NM_001166262,NM_001166263,NM_152912 MTIF3,MTIF3,MTIF3,MTIF3 EXON Missense_R85Q,Missense_R85Q,Missense_R85Q,Missense_R85Q exm1059663 13 28014383 [A/G] NM_001166261,NM_001166262,NM_001166263,NM_152912 MTIF3,MTIF3,MTIF3,MTIF3 EXON Missense_T68I,Missense_T68I,Missense_T68I,Missense_T68I exm-rs4771122 13 28020180 [A/G] NM_001166261,NM_001166262,NM_001166263,NM_152912 MTIF3,MTIF3,MTIF3,MTIF3 Silent,Silent,Silent,Silent exm-rs7336332 13 28058404 [A/G] exm2251379 13 28122502 [A/G] NM_153371 LNX2 EXON Synonymous_T681T exm1059677 13 28124510 [T/C] NM_153371 LNX2 EXON Missense_I633V exm1059687 13 28127429 [A/G] NM_153371 LNX2 EXON Missense_A565V exm2251380 13 28127431 [A/G] NM_153371 LNX2 EXON Synonymous_N564N exm1059690 13 28127471 [T/C] NM_153371 LNX2 EXON Missense_K551R exm1059696 13 28130540 [T/C] NM_153371 LNX2 EXON Missense_Q460R exm1059703 13 28134121 [C/G] NM_153371 LNX2 EXON Missense_A409G exm1059705 13 28136594 [T/C] NM_153371 LNX2 EXON Missense_D394N exm1059707 13 28136609 [T/C] NM_153371 LNX2 EXON Missense_A389T exm1059714 13 28136740 [A/C] NM_153371 LNX2 EXON Missense_R345L exm1059726 13 28143178 [T/C] NM_153371 LNX2 EXON Missense_A215T exm1059727 13 28143185 [A/C] NM_153371 LNX2 EXON Missense_E212D exm1059733 13 28143225 [A/G] NM_153371 LNX2 EXON Missense_T199I exm1059734 13 28143229 [A/G] NM_153371 LNX2 EXON Missense_S198P exm1059735 13 28143234 [A/G] NM_153371 LNX2 EXON Missense_S196F exm1059743 13 28143388 [T/C] NM_153371 LNX2 EXON Missense_V145I exm2267502 13 28150381 [A/G] NM_153371 LNX2 Silent exm1059747 13 28155529 [A/T] NM_153371 LNX2 EXON Missense_H104Q exm1059774 13 28197314 [T/C] NM_001206559,NM_152705,NM_015972 POLR1D,POLR1D,POLR1D EXON Silent,Silent,Missense_V110A exm-rs7097 13 28197436 [T/C] NM_001206559,NM_152705,NM_015972 POLR1D,POLR1D,POLR1D EXON Silent,Silent,Silent exm2251382 13 28299780 [A/G] exm1059824 13 28367990 [A/C] NM_145657 GSX1 EXON Missense_L234I exm2267589 13 28426279 [A/G] exm-rs954750 13 28463938 [T/C] exm-rs11619319 13 28487599 [A/G] exm1794069 13 28537284 [T/C] NM_001265 CDX2 EXON Missense_G304R exm1059867 13 28537317 [A/G] NM_001265 CDX2 EXON Missense_P293S exm1059875 13 28539069 [A/G] NM_001265 CDX2 EXON Missense_R209C exm1059878 13 28542608 [T/C] NM_001265 CDX2 EXON Missense_S179N exm1059914 13 28562605 [T/G] NM_001105577 PRHOXNB EXON Missense_Q57P exm1059924 13 28578209 [C/G] NM_004119 FLT3 EXON Missense_A988P exm1059926 13 28578221 [A/G] NM_004119 FLT3 EXON Missense_L984F exm1059927 13 28578253 [T/C] NM_004119 FLT3 EXON Missense_R973Q exm1794082 13 28578254 [A/G] NM_004119 FLT3 EXON Nonsense_R973X exm1059930 13 28578283 [A/G] NM_004119 FLT3 EXON Missense_S963L exm1059939 13 28589322 [C/G] NM_004119 FLT3 EXON Missense_D909H exm1059953 13 28597522 [T/C] NM_004119 FLT3 EXON Missense_V795I exm1059955 13 28597593 [T/G] NM_004119 FLT3 EXON Missense_Q771P exm1059960 13 28599075 [C/G] NM_004119 FLT3 EXON Missense_P738R exm1059962 13 28599077 [G/C] NM_004119 FLT3 EXON Missense_M737I exm1059981 13 28608473 [T/C] NM_004119 FLT3 EXON Missense_V557I exm2251383 13 28610152 [T/C] NM_004119 FLT3 EXON Synonymous_S446S exm1060004 13 28611336 [A/G] NM_004119 FLT3 EXON Missense_T432M exm1060006 13 28611382 [T/G] NM_004119 FLT3 EXON Missense_I417L exm1060008 13 28622544 [A/T] NM_004119 FLT3 EXON Missense_D358V exm1060015 13 28623587 [T/C] NM_004119 FLT3 EXON Missense_D324N exm1794122 13 28623831 [T/C] NM_004119 FLT3 EXON Missense_V275I exm1060027 13 28624246 [T/C] NM_004119 FLT3 EXON Missense_R243K exm1060029 13 28624294 [A/G] NM_004119 FLT3 EXON Missense_T227M exm1060033 13 28626704 [A/G] NM_004119 FLT3 EXON Missense_L198F exm1060035 13 28626716 [T/C] NM_004119 FLT3 EXON Missense_V194M exm1060040 13 28631519 [A/G] NM_004119 FLT3 EXON Missense_T150I exm1060053 13 28644747 [C/G] NM_004119 FLT3 EXON Missense_V16L exm1060075 13 28750687 [T/G] NM_175854 PAN3 EXON Missense_S204A exm1060110 13 28840918 [A/G] NM_175854 PAN3 EXON Missense_R493Q exm1060122 13 28844967 [T/C] NM_175854 PAN3 EXON Missense_M641T exm2272001 13 28847135 [T/C] NM_175854 PAN3 Silent exm1060143 13 28866586 [C/G] NM_175854 PAN3 EXON Missense_T864S exm1060163 13 28883002 [A/G] NM_002019 FLT1 EXON Missense_P1233L exm1060168 13 28885760 [A/G] NM_002019 FLT1 EXON Missense_P1201L exm1060172 13 28886135 [T/G] NM_002019 FLT1 EXON Missense_Q1163K exm1060181 13 28893602 [T/C] NM_002019 FLT1 EXON Missense_V1082M exm1060190 13 28896428 [T/C] NM_002019 FLT1 EXON Missense_R1008G exm1060194 13 28896935 [T/G] NM_002019 FLT1 EXON Missense_E982A exm1794195 13 28896943 [T/A] NM_002019 FLT1 EXON Missense_D979E exm2251384 13 28897003 [A/G] NM_002019 FLT1 EXON Synonymous_S959S exm1060220 13 28919682 [A/G] NM_002019 FLT1 EXON Missense_S752L exm-rs17086609 13 28929711 [A/G] NM_002019 FLT1 Silent exm2267504 13 28953808 [A/G] NM_002019,NM_001160030 FLT1,FLT1 Silent,Silent exm1060231 13 28959115 [T/C] NM_002019,NM_001160030 FLT1,FLT1 EXON Missense_S675G,Missense_S675G exm1060233 13 28963968 [T/G] NM_002019,NM_001160030,NM_001159920 FLT1,FLT1,FLT1 EXON Missense_E645A,Missense_E645A,Missense_E645A exm1060234 13 28964035 [T/C] NM_002019,NM_001160030,NM_001159920 FLT1,FLT1,FLT1 EXON Missense_I623V,Missense_I623V,Missense_I623V exm1060242 13 28971113 [T/C] NM_002019,NM_001160030,NM_001159920 FLT1,FLT1,FLT1 EXON Missense_I548M,Missense_I548M,Missense_I548M exm-rs9319428 13 28973621 [A/G] NM_002019,NM_001160030,NM_001159920,NM_001160031 FLT1,FLT1,FLT1,FLT1 Silent,Silent,Silent,Silent exm1060249 13 28980020 [T/C] NM_002019,NM_001160030,NM_001159920,NM_001160031 FLT1,FLT1,FLT1,FLT1 EXON Missense_C483Y,Missense_C483Y,Missense_C483Y,Missense_C483Y exm1060253 13 29001349 [T/G] NM_002019,NM_001160030,NM_001159920,NM_001160031 FLT1,FLT1,FLT1,FLT1 EXON Missense_Q461H,Missense_Q461H,Missense_Q461H,Missense_Q461H exm1060255 13 29001374 [A/G] NM_002019,NM_001160030,NM_001159920,NM_001160031 FLT1,FLT1,FLT1,FLT1 EXON Missense_T453I,Missense_T453I,Missense_T453I,Missense_T453I exm1060262 13 29002008 [T/C] NM_002019,NM_001160030,NM_001159920,NM_001160031 FLT1,FLT1,FLT1,FLT1 EXON Missense_R386H,Missense_R386H,Missense_R386H,Missense_R386H exm1060274 13 29005406 [C/G] NM_002019,NM_001160030,NM_001159920,NM_001160031 FLT1,FLT1,FLT1,FLT1 EXON Missense_S285R,Missense_S285R,Missense_S285R,Missense_S285R exm2221554 13 29012441 [T/C] NM_002019,NM_001160030,NM_001159920,NM_001160031 FLT1,FLT1,FLT1,FLT1 EXON Missense_E144K,Missense_E144K,Missense_E144K,Missense_E144K exm1060289 13 29012476 [T/C] NM_002019,NM_001160030,NM_001159920,NM_001160031 FLT1,FLT1,FLT1,FLT1 EXON Missense_G132D,Missense_G132D,Missense_G132D,Missense_G132D exm1060292 13 29041046 [T/G] NM_002019,NM_001160030,NM_001159920,NM_001160031 FLT1,FLT1,FLT1,FLT1 EXON Missense_I128L,Missense_I128L,Missense_I128L,Missense_I128L exm1060298 13 29041266 [G/C] NM_002019,NM_001160030,NM_001159920,NM_001160031 FLT1,FLT1,FLT1,FLT1 EXON Missense_R54S,Missense_R54S,Missense_R54S,Missense_R54S exm1060314 13 29236626 [A/C] NM_015932 POMP EXON Missense_H28P exm1060315 13 29236634 [T/C] NM_015932 POMP EXON Missense_L31F exm1060320 13 29242615 [C/G] NM_015932 POMP EXON Missense_Q56H exm1060339 13 29278177 [T/C] NM_181785,NM_001135919 SLC46A3,SLC46A3 EXON Missense_T402A,Missense_T402A exm-rs1305088 13 29278450 [T/C] NM_181785,NM_001135919 SLC46A3,SLC46A3 Silent,Silent exm1060344 13 29284911 [T/C] NM_181785,NM_001135919 SLC46A3,SLC46A3 EXON Missense_R377H,Missense_R377H exm1060352 13 29286849 [A/G] NM_181785,NM_001135919 SLC46A3,SLC46A3 EXON Missense_A343V,Missense_A343V exm1060356 13 29286888 [A/G] NM_181785,NM_001135919 SLC46A3,SLC46A3 EXON Missense_I330T,Missense_I330T exm1060359 13 29287078 [C/G] NM_181785,NM_001135919 SLC46A3,SLC46A3 EXON Missense_V267L,Missense_V267L exm1060361 13 29287146 [T/C] NM_181785,NM_001135919 SLC46A3,SLC46A3 EXON Missense_R244Q,Missense_R244Q exm1060362 13 29287147 [A/G] NM_181785,NM_001135919 SLC46A3,SLC46A3 EXON Nonsense_R244X,Nonsense_R244X exm1060365 13 29287222 [T/C] NM_181785,NM_001135919 SLC46A3,SLC46A3 EXON Missense_G219R,Missense_G219R exm1060369 13 29287326 [A/C] NM_181785,NM_001135919 SLC46A3,SLC46A3 EXON Missense_G184V,Missense_G184V exm2251388 13 29287367 [A/G] NM_181785,NM_001135919 SLC46A3,SLC46A3 EXON Synonymous_A170A,Synonymous_A170A exm1060374 13 29287450 [T/C] NM_181785,NM_001135919 SLC46A3,SLC46A3 EXON Missense_N143D,Missense_N143D exm1060379 13 29287552 [T/C] NM_181785,NM_001135919 SLC46A3,SLC46A3 EXON Missense_V109I,Missense_V109I exm1060381 13 29287579 [A/G] NM_181785,NM_001135919 SLC46A3,SLC46A3 EXON Nonsense_R100X,Nonsense_R100X exm1060383 13 29287584 [T/C] NM_181785,NM_001135919 SLC46A3,SLC46A3 EXON Missense_Y98C,Missense_Y98C exm1060385 13 29287665 [T/C] NM_181785,NM_001135919 SLC46A3,SLC46A3 EXON Missense_R71H,Missense_R71H exm1060393 13 29292098 [T/C] NM_181785,NM_001135919 SLC46A3,SLC46A3 EXON Missense_S13N,Missense_S13N exm-rs1161463 13 29431338 [A/G] exm2267505 13 29581618 [A/G] exm1060399 13 29598842 [A/G] NM_001033602 MTUS2 EXON Missense_V13I exm1060401 13 29598918 [A/G] NM_001033602 MTUS2 EXON Missense_S38N exm1060402 13 29598927 [A/G] NM_001033602 MTUS2 EXON Missense_S41N exm1060415 13 29599208 [T/C] NM_001033602 MTUS2 EXON Missense_R135W exm1060416 13 29599211 [A/G] NM_001033602 MTUS2 EXON Missense_S136G exm1060419 13 29599233 [T/C] NM_001033602 MTUS2 EXON Missense_S143L exm1060421 13 29599238 [T/C] NM_001033602 MTUS2 EXON Missense_W145R exm2221557 13 29599245 [A/G] NM_001033602 MTUS2 EXON Missense_N147S exm1060429 13 29599410 [T/C] NM_001033602 MTUS2 EXON Missense_P202L exm1060434 13 29599442 [T/C] NM_001033602 MTUS2 EXON Missense_R213W exm1060436 13 29599451 [T/C] NM_001033602 MTUS2 EXON Missense_R216W exm1060439 13 29599559 [T/C] NM_001033602 MTUS2 EXON Missense_R252C exm1060449 13 29599784 [T/C] NM_001033602 MTUS2 EXON Missense_P327S exm1794270 13 29599874 [T/G] NM_001033602 MTUS2 EXON Missense_D357Y exm1060453 13 29599896 [T/C] NM_001033602 MTUS2 EXON Missense_P364L exm1060456 13 29600025 [A/G] NM_001033602 MTUS2 EXON Missense_K407R exm1060458 13 29600040 [A/C] NM_001033602 MTUS2 EXON Missense_S412Y exm1060462 13 29600153 [A/G] NM_001033602 MTUS2 EXON Missense_I450V exm1060466 13 29600208 [A/G] NM_001033602 MTUS2 EXON Missense_R468Q exm1060469 13 29600272 [C/G] NM_001033602 MTUS2 EXON Missense_N489K exm1060471 13 29600324 [T/C] NM_001033602 MTUS2 EXON Missense_R507W exm1060473 13 29600340 [T/A] NM_001033602 MTUS2 EXON Missense_V512D exm1060475 13 29600415 [A/G] NM_001033602 MTUS2 EXON Missense_D537G exm1060476 13 29600478 [T/C] NM_001033602 MTUS2 EXON Missense_P558L exm1060480 13 29600526 [A/G] NM_001033602 MTUS2 EXON Missense_D574G exm1060484 13 29600570 [T/C] NM_001033602 MTUS2 EXON Missense_R589C exm1060486 13 29600642 [A/T] NM_001033602 MTUS2 EXON Missense_T613S exm1060493 13 29600889 [T/C] NM_001033602 MTUS2 EXON Missense_A695V exm1060494 13 29600891 [A/G] NM_001033602 MTUS2 EXON Missense_G696S exm1060499 13 29608080 [T/C] NM_001033602 MTUS2 EXON Missense_V765A exm1794283 13 29608107 [T/G] NM_001033602 MTUS2 EXON Missense_M774R exm1794284 13 29608141 [C/G] NM_001033602 MTUS2 EXON Missense_M785I exm1060501 13 29608190 [T/C] NM_001033602 MTUS2 EXON Missense_S802P exm-rs1887752 13 29670346 [T/C] NM_001033602 MTUS2 Silent exm2271914 13 29813633 [T/G] NM_001033602 MTUS2 Silent exm1060520 13 29855847 [T/C] NM_001033602 MTUS2 EXON Missense_T894I exm1060527 13 29898768 [A/C] NM_001033602 MTUS2 EXON Missense_Q952P exm1060529 13 29898773 [A/G] NM_001033602 MTUS2 EXON Missense_D954N exm1060530 13 29898783 [T/C] NM_001033602 MTUS2 EXON Missense_T957M exm1060532 13 29898792 [T/C] NM_001033602 MTUS2 EXON Missense_P960L exm2267590 13 29925547 [A/G] NM_001033602 MTUS2 Silent exm1060537 13 29933450 [T/C] NM_001033602 MTUS2 EXON Missense_P996L exm1060542 13 29933536 [T/G] NM_001033602 MTUS2 EXON Missense_A1025S exm1060554 13 30003025 [A/G] NM_001033602,NM_015233 MTUS2,MTUS2 EXON Silent,Missense_D16N exm1060558 13 30014159 [A/G] NM_001033602,NM_015233 MTUS2,MTUS2 EXON Missense_E1063K,Missense_E32K exm1060572 13 30054431 [T/C] NM_001033602,NM_015233,NR_046378 MTUS2,MTUS2,MTUS2-AS1 EXON Missense_A1120V,Missense_A89V,Silent exm1060602 13 30077281 [A/G] NM_001033602,NM_015233 MTUS2,MTUS2 EXON Missense_V1360I,Missense_V329I exm1794325 13 30088640 [T/C] NM_003045 SLC7A1 EXON Missense_G623S exm1060611 13 30088648 [T/G] NM_003045 SLC7A1 EXON Missense_T620N exm1060621 13 30091436 [T/C] NM_003045 SLC7A1 EXON Missense_I508V exm1060626 13 30091775 [A/G] NM_003045 SLC7A1 EXON Missense_S482L exm1060638 13 30096460 [T/C] NM_003045 SLC7A1 EXON Missense_V395I exm1060680 13 30107018 [T/C] NM_003045 SLC7A1 EXON Missense_G158S exm1060691 13 30107104 [G/C] NM_003045 SLC7A1 EXON Missense_A129G exm1060692 13 30107118 [A/C] NM_003045 SLC7A1 EXON Synonymous_G124G exm2271915 13 30332070 [T/G] exm-rs9314986 13 30458737 [T/G] NR_046510 LINC00297 Silent exm-rs501378 13 30655961 [T/C] exm2271916 13 30670985 [T/G] exm1060761 13 30804719 [A/C] NM_001014380,NM_032116 KATNAL1,KATNAL1 EXON Missense_A300S,Missense_A300S exm1060764 13 30805522 [T/C] NM_001014380,NM_032116 KATNAL1,KATNAL1 EXON Missense_V272I,Missense_V272I exm1060777 13 30829622 [T/C] NM_001014380,NM_032116 KATNAL1,KATNAL1 EXON Missense_R152G,Missense_R152G exm1060780 13 30829650 [T/C] NM_001014380,NM_032116 KATNAL1,KATNAL1 EXON Missense_I142M,Missense_I142M exm1060785 13 30854289 [A/C] NM_001014380,NM_032116 KATNAL1,KATNAL1 EXON Missense_I78M,Missense_I78M exm2271917 13 31108727 [T/C] exm-rs11618202 13 31113379 [T/G] exm2267591 13 31135492 [A/G] exm1060825 13 31195291 [T/C] NM_005800 USPL1 EXON Missense_P5L exm1060826 13 31195297 [T/C] NM_005800 USPL1 EXON Missense_I7T exm1060830 13 31205004 [A/T] NM_005800 USPL1 EXON Missense_N87K exm1060836 13 31205171 [A/G] NM_005800 USPL1 EXON Missense_G143E exm1060838 13 31205192 [T/C] NM_005800 USPL1 EXON Missense_S150L exm1060846 13 31205365 [T/C] NM_005800 USPL1 EXON Missense_S208P exm1060853 13 31205536 [A/C] NM_005800 USPL1 EXON Missense_I265L exm2221566 13 31211922 [A/G] NM_005800 USPL1 EXON Missense_I304V exm1060862 13 31221106 [T/C] NM_005800 USPL1 EXON Missense_P384S exm1060863 13 31221130 [T/G] NM_005800 USPL1 EXON Missense_A392S exm1060866 13 31221151 [A/C] NM_005800 USPL1 EXON Missense_N399H exm1060870 13 31227339 [T/G] NM_005800 USPL1 EXON Missense_L431F exm1060873 13 31227408 [T/G] NM_005800 USPL1 EXON Missense_N454K exm1060877 13 31231778 [C/G] NM_005800 USPL1 EXON Missense_A522P exm1060878 13 31231779 [G/C] NM_005800 USPL1 EXON Missense_A522G exm1060879 13 31231806 [T/C] NM_005800 USPL1 EXON Missense_L531S exm1060882 13 31231862 [T/C] NM_005800 USPL1 EXON Missense_P550S exm1060883 13 31231872 [T/C] NM_005800 USPL1 EXON Missense_I553T exm1060884 13 31231886 [T/C] NM_005800 USPL1 EXON Missense_R558C exm1060891 13 31231961 [A/G] NM_005800 USPL1 EXON Missense_I583V exm1060893 13 31231976 [G/C] NM_005800 USPL1 EXON Missense_L588V exm1060901 13 31232253 [A/G] NM_005800 USPL1 EXON Missense_N680S exm1060908 13 31232406 [T/C] NM_005800 USPL1 EXON Missense_T731I exm1060917 13 31232570 [T/A] NM_005800 USPL1 EXON Missense_L786I exm1060922 13 31232661 [A/G] NM_005800 USPL1 EXON Missense_R816H exm1060927 13 31232765 [T/G] NM_005800 USPL1 EXON Missense_L851V exm1060938 13 31232960 [C/G] NM_005800 USPL1 EXON Missense_R916G exm1060942 13 31233063 [A/G] NM_005800 USPL1 EXON Missense_S950N exm1060944 13 31233080 [A/G] NM_005800 USPL1 EXON Missense_T956A exm1060951 13 31233231 [T/C] NM_005800 USPL1 EXON Missense_P1006L exm1060952 13 31233242 [A/G] NM_005800 USPL1 EXON Missense_E1010K exm1060957 13 31233333 [T/A] NM_005800 USPL1 EXON Missense_D1040V exm1060959 13 31233377 [A/T] NM_005800 USPL1 EXON Missense_S1055C exm2251396 13 31309703 [T/C] NM_001204406,NM_001629 ALOX5AP,ALOX5AP EXON Synonymous_A44A,Silent exm1794471 13 31309719 [T/C] NM_001204406,NM_001629 ALOX5AP,ALOX5AP EXON Missense_L50F,Silent exm1060967 13 31318222 [T/C] NM_001204406,NM_001629 ALOX5AP,ALOX5AP EXON Synonymous_H89H,Synonymous_H32H exm1794480 13 31338106 [T/C] NM_001204406,NM_001629 ALOX5AP,ALOX5AP EXON Missense_R174C,Missense_R117C exm1060982 13 31338109 [A/G] NM_001204406,NM_001629 ALOX5AP,ALOX5AP EXON Missense_I175V,Missense_I118V exm1060998 13 31480670 [G/C] NR_038287,NM_032849 TEX26-AS1,MEDAG EXON Silent,Missense_C6W exm1061000 13 31480720 [A/G] NR_038287,NM_032849 TEX26-AS1,MEDAG EXON Silent,Missense_R23H exm1061001 13 31480725 [A/C] NR_038287,NM_032849 TEX26-AS1,MEDAG EXON Silent,Missense_L25M exm1061008 13 31491589 [A/G] NR_038287,NM_032849 TEX26-AS1,MEDAG EXON Silent,Missense_I110V exm1061012 13 31495157 [T/C] NR_038287,NM_032849 TEX26-AS1,MEDAG EXON Silent,Missense_T132M exm1061021 13 31495241 [T/C] NR_038287,NM_032849 TEX26-AS1,MEDAG EXON Silent,Missense_I160T exm1061027 13 31495813 [A/G] NR_038287,NM_032849 TEX26-AS1,MEDAG EXON Silent,Missense_Y206C exm1061029 13 31495834 [A/C] NR_038287,NM_032849 TEX26-AS1,MEDAG EXON Silent,Missense_S213Y exm1061052 13 31513844 [A/C] NM_152325 TEX26 EXON Missense_N25K exm1061053 13 31513900 [T/C] NM_152325 TEX26 EXON Missense_V44A exm1061054 13 31513903 [T/C] NM_152325 TEX26 EXON Missense_P45L exm1061061 13 31526877 [A/G] NM_152325 TEX26 EXON Missense_Y76C exm1061065 13 31526958 [A/G] NM_152325 TEX26 EXON Missense_N103S exm1061067 13 31531009 [A/G] NM_152325 TEX26 Silent exm1794527 13 31531121 [T/C] NM_152325 TEX26 EXON Nonsense_Q142X exm1061079 13 31540436 [T/C] NM_152325 TEX26 EXON Nonsense_R183X exm1061080 13 31540437 [A/G] NM_152325 TEX26 EXON Missense_R183Q exm1061082 13 31540477 [A/T] NM_152325 TEX26 EXON Missense_Q196H exm1061087 13 31543068 [T/G] NM_152325 TEX26 EXON Missense_K231N exm1061092 13 31543131 [C/G] NM_152325 TEX26 EXON Missense_N252K exm2274645 13 31543158 [A/G] NM_152325 TEX26 EXON Synonymous_E261E exm2251397 13 31587270 [A/C] exm1061106 13 31712572 [T/C] NM_006644 HSPH1 EXON Missense_R781H exm2274646 13 31714328 [T/C] NM_006644 HSPH1 EXON Missense_C658Y exm1061121 13 31714379 [T/C] NM_006644 HSPH1 EXON Missense_Y641C exm1061132 13 31719700 [A/C] NM_006644 HSPH1 EXON Missense_D528E exm1061142 13 31722129 [T/G] NM_006644 HSPH1 EXON Missense_P449T exm1061145 13 31722171 [G/C] NM_006644 HSPH1 EXON Missense_L435V exm1061148 13 31722228 [T/C] NM_006644 HSPH1 EXON Missense_V416I exm1061150 13 31722566 [T/C] NM_006644 HSPH1 EXON Missense_A397T exm1061157 13 31724187 [A/C] NM_006644 HSPH1 EXON Missense_I347M exm1061170 13 31725238 [A/G] NM_006644 HSPH1 EXON Missense_Y252H exm1061176 13 31725302 [G/C] NM_006644 HSPH1 EXON Missense_F230L exm1061197 13 31728850 [T/C] NM_006644 HSPH1 EXON Missense_I117V exm1061208 13 31729776 [T/G] NM_006644 HSPH1 EXON Missense_N61H exm1061209 13 31729778 [T/G] NM_006644 HSPH1 EXON Missense_A60E exm1061235 13 31789187 [T/G] NM_194318 B3GALTL Silent exm1061258 13 31821992 [T/C] NM_194318 B3GALTL EXON Synonymous_H116H exm1061261 13 31822094 [A/C] NM_194318 B3GALTL EXON Missense_D150E exm1061264 13 31835127 [A/G] NM_194318 B3GALTL EXON Missense_I168M exm1061271 13 31843415 [A/G] NM_194318 B3GALTL Silent exm1061278 13 31848718 [A/G] NM_194318 B3GALTL EXON Missense_V245M exm1061285 13 31858790 [A/G] NM_194318 B3GALTL EXON Missense_I286V exm1794610 13 31858836 [T/A] NM_194318 B3GALTL EXON Missense_Y301F exm1061296 13 31891743 [A/G] NM_194318 B3GALTL EXON Missense_G369S exm1061298 13 31891746 [A/G] NM_194318 B3GALTL EXON Missense_E370K exm1061309 13 31897910 [A/G] NM_194318 B3GALTL EXON Missense_V403I exm1061317 13 31903680 [A/G] NM_194318 B3GALTL EXON Missense_V458I exm1061319 13 31903713 [T/G] NM_194318 B3GALTL EXON Missense_D469Y exm2251398 13 32087608 [A/G] exm2272002 13 32301038 [T/G] exm1061329 13 32313822 [A/G] NM_130806,NM_001166058 RXFP2,RXFP2 EXON Missense_I25V,Missense_I25V exm1061332 13 32332484 [A/G] NM_130806,NM_001166058 RXFP2,RXFP2 EXON Missense_A62T,Missense_A62T exm1061348 13 32340164 [T/C] NM_130806,NM_001166058 RXFP2,RXFP2 EXON Missense_I166T,Missense_I166T exm1061355 13 32351535 [A/C] NM_130806,NM_001166058 RXFP2,RXFP2 EXON Missense_T222P,Missense_T222P exm1061358 13 32352714 [A/G] NM_130806,NM_001166058 RXFP2,RXFP2 EXON Missense_N260S,Missense_N260S exm1061381 13 32365981 [A/G] NM_130806,NM_001166058 RXFP2,RXFP2 EXON Missense_H395R,Missense_H371R exm1061389 13 32366865 [A/G] NM_130806,NM_001166058 RXFP2,RXFP2 EXON Missense_I476V,Missense_I452V exm1061391 13 32366906 [A/G] NM_130806,NM_001166058 RXFP2,RXFP2 EXON Nonsense_W489X,Nonsense_W465X exm1061393 13 32366926 [A/G] NM_130806,NM_001166058 RXFP2,RXFP2 EXON Missense_R496H,Missense_R472H exm1061396 13 32367024 [A/G] NM_130806,NM_001166058 RXFP2,RXFP2 EXON Missense_S529G,Missense_S505G exm1061398 13 32367045 [T/C] NM_130806,NM_001166058 RXFP2,RXFP2 EXON Missense_R536W,Missense_R512W exm1061399 13 32367046 [A/G] NM_130806,NM_001166058 RXFP2,RXFP2 EXON Missense_R536Q,Missense_R512Q exm1061400 13 32367082 [T/C] NM_130806,NM_001166058 RXFP2,RXFP2 EXON Missense_A548V,Missense_A524V exm1061405 13 32371361 [A/G] NM_130806,NM_001166058 RXFP2,RXFP2 EXON Missense_I604V,Missense_I580V exm1061406 13 32371377 [A/G] NM_130806,NM_001166058 RXFP2,RXFP2 EXON Missense_Y609C,Missense_Y585C exm1061408 13 32371409 [A/G] NM_130806,NM_001166058 RXFP2,RXFP2 EXON Missense_A620T,Missense_A596T exm1061429 13 32606002 [A/C] NM_023037 FRY EXON Missense_T24P exm1061436 13 32652979 [A/G] NM_023037 FRY EXON Missense_V27I exm2251401 13 32699001 [A/G] NM_023037 FRY EXON Synonymous_L235L exm1061480 13 32723886 [T/A] NM_023037 FRY EXON Missense_E465V exm2251402 13 32729705 [A/G] NM_023037 FRY EXON Synonymous_P519P exm1061484 13 32729705 [A/G] NM_023037 FRY EXON Synonymous_P519P exm1061499 13 32745396 [A/G] NM_023037 FRY EXON Missense_R714G exm1061506 13 32747657 [A/G] NM_023037 FRY EXON Missense_A769T exm1061510 13 32749758 [A/G] NM_023037 FRY EXON Missense_V804I exm1061516 13 32752539 [C/G] NM_023037 FRY EXON Missense_R883G exm2271918 13 32755834 [T/C] NM_023037 FRY Silent exm1061533 13 32759240 [A/G] NM_023037 FRY EXON Missense_A1092T exm1061549 13 32768428 [A/G] NM_023037 FRY EXON Missense_G1247E exm1061558 13 32776542 [A/G] NM_023037 FRY EXON Missense_R1299K exm1061560 13 32776571 [C/G] NM_023037 FRY EXON Missense_G1309R exm1061564 13 32776604 [A/G] NM_023037 FRY EXON Missense_A1320T exm1061565 13 32776607 [T/C] NM_023037 FRY EXON Missense_L1321F exm1061566 13 32776616 [A/T] NM_023037 FRY EXON Missense_C1324S exm1061587 13 32783143 [A/G] NM_023037 FRY EXON Missense_R1391Q exm1061599 13 32783828 [T/G] NM_023037 FRY EXON Missense_S1461I exm1061607 13 32783868 [T/C] NM_023037 FRY EXON Synonymous_Y1474Y exm1061611 13 32785102 [A/G] NM_023037 FRY EXON Missense_V1508I exm1061616 13 32785133 [T/G] NM_023037 FRY EXON Missense_R1518L exm1061634 13 32800075 [A/G] NM_023037 FRY EXON Missense_V1724M exm1061643 13 32805429 [A/C] NM_023037 FRY EXON Missense_S1840Y exm1061652 13 32811607 [A/G] NM_023037 FRY EXON Missense_G1968S exm2221578 13 32811791 [T/C] NM_023037 FRY EXON Missense_T2029M exm1061662 13 32811974 [T/C] NM_023037 FRY EXON Missense_A2090V exm1061665 13 32812117 [A/G] NM_023037 FRY EXON Missense_A2138T exm1061673 13 32813873 [A/G] NM_023037 FRY EXON Missense_K2181R exm1061696 13 32823712 [A/G] NM_023037 FRY EXON Missense_R2353H exm1061704 13 32828460 [A/G] NM_023037 FRY EXON Missense_T2449A exm1061712 13 32835824 [A/G] NM_023037 FRY EXON Missense_M2496I exm1061713 13 32835840 [T/C] NM_023037 FRY EXON Missense_R2502C exm1061715 13 32835887 [T/G] NM_023037 FRY EXON Missense_E2517D exm1061718 13 32836467 [G/C] NM_023037 FRY EXON Missense_P2545R exm1061720 13 32836505 [A/G] NM_023037 FRY EXON Missense_A2558T exm1061721 13 32836515 [T/C] NM_023037 FRY EXON Missense_S2561L exm1061741 13 32848991 [A/G] NM_023037 FRY EXON Missense_R2717G exm1061770 13 32869339 [A/G] NM_023037 FRY EXON Synonymous_R2928R exm1061798 13 32886038 [A/G] NM_001136571 ZAR1L EXON Missense_Y9H exm1061808 13 32893271 [A/G] NM_000059 BRCA2 EXON Missense_Y42C exm1061809 13 32893321 [C/G] NM_000059 BRCA2 EXON Missense_P59A exm1061827 13 32900279 [A/G] NM_000059 BRCA2 EXON Missense_D156G exm1061840 13 32905104 [T/G] NM_000059 BRCA2 EXON Missense_D244Y exm1794920 13 32906558 [A/T] NM_000059 BRCA2 EXON Missense_C315S exm1061853 13 32906593 [A/C] NM_000059 BRCA2 EXON Missense_S326R exm1061859 13 32906655 [A/G] NM_000059 BRCA2 EXON Missense_Q347R exm1061861 13 32906729 [A/C] NM_000059 BRCA2 EXON Missense_N372H exm1794921 13 32906738 [T/C] NM_000059 BRCA2 EXON Missense_P375S exm1061863 13 32906766 [T/C] NM_000059 BRCA2 EXON Missense_S384F exm1061873 13 32907000 [A/G] NM_000059 BRCA2 EXON Missense_E462G exm1061881 13 32907129 [T/C] NM_000059 BRCA2 EXON Missense_I505T exm1061884 13 32907277 [T/G] NM_000059 BRCA2 EXON Missense_C554W exm1794923 13 32907359 [A/C] NM_000059 BRCA2 EXON Missense_T582P exm1061889 13 32907401 [C/G] NM_000059 BRCA2 EXON Missense_D596H exm1061891 13 32907407 [A/G] NM_000059 BRCA2 EXON Missense_T598A exm1061892 13 32907413 [T/C] NM_000059 BRCA2 EXON Missense_Y600H exm1061898 13 32910403 [T/C] NM_000059 BRCA2 EXON Synonymous_G637G exm1061900 13 32910456 [G/C] NM_000059 BRCA2 EXON Missense_P655R exm1061913 13 32910812 [A/G] NM_000059 BRCA2 EXON Missense_T774A exm2221587 13 32910842 [A/G] NM_000059 BRCA2 EXON Missense_M784V exm2221588 13 32911263 [A/T] NM_000059 BRCA2 EXON Missense_N924I exm1061922 13 32911278 [T/C] NM_000059 BRCA2 EXON Missense_L929S exm2276291 13 32911295 [A/G] NM_000059 BRCA2 EXON Missense_D935N exm1061927 13 32911418 [A/T] NM_000059 BRCA2 EXON Missense_S976T exm1061928 13 32911419 [T/C] NM_000059 BRCA2 EXON Missense_S976F exm1061930 13 32911452 [A/T] NM_000059 BRCA2 EXON Missense_N987I exm1061931 13 32911463 [A/G] NM_000059 BRCA2 EXON Missense_N991D exm1061932 13 32911479 [T/G] NM_000059 BRCA2 EXON Missense_L996R exm1061935 13 32911547 [G/C] NM_000059 BRCA2 EXON Missense_L1019V exm1061946 13 32911937 [A/G] NM_000059 BRCA2 EXON Missense_M1149V exm1061947 13 32912007 [T/C] NM_000059 BRCA2 EXON Missense_S1172L exm1061956 13 32912361 [A/G] NM_000059 BRCA2 EXON Missense_C1290Y exm1061960 13 32912582 [A/C] NM_000059 BRCA2 EXON Missense_I1364L exm1061962 13 32912679 [A/G] NM_000059 BRCA2 EXON Missense_Q1396R exm1061963 13 32912733 [T/C] NM_000059 BRCA2 EXON Missense_T1414M exm1061964 13 32912750 [T/G] NM_000059 BRCA2 EXON Missense_D1420Y exm2274647 13 32912868 [A/G] NM_000059 BRCA2 EXON Missense_N1459S exm1061972 13 32913077 [A/G] NM_000059 BRCA2 EXON Missense_G1529R exm1061975 13 32913173 [A/C] NM_000059 BRCA2 EXON Missense_H1561N exm1061989 13 32913562 [A/C] NM_000059 BRCA2 EXON Missense_K1690N exm1061993 13 32913690 [T/C] NM_000059 BRCA2 EXON Missense_S1733F exm1061996 13 32913804 [A/G] NM_000059 BRCA2 EXON Missense_G1771D exm1062009 13 32914046 [A/G] NM_000059 BRCA2 EXON Missense_V1852I exm1062013 13 32914127 [A/G] NM_000059 BRCA2 EXON Missense_E1879K exm1062014 13 32914132 [T/G] NM_000059 BRCA2 EXON Missense_N1880K exm1062018 13 32914196 [A/G] NM_000059 BRCA2 EXON Missense_D1902N exm1062021 13 32914236 [T/C] NM_000059 BRCA2 EXON Missense_T1915M exm1062022 13 32914244 [T/C] NM_000059 BRCA2 EXON Missense_H1918Y exm1062023 13 32914260 [A/C] NM_000059 BRCA2 EXON Missense_D1923A exm1062024 13 32914277 [A/G] NM_000059 BRCA2 EXON Missense_I1929V exm1062026 13 32914371 [A/G] NM_000059 BRCA2 EXON Missense_C1960Y exm1062034 13 32914592 [T/C] NM_000059 BRCA2 EXON Missense_R2034C exm2221592 13 32914623 [T/G] NM_000059 BRCA2 EXON Missense_G2044V exm1062037 13 32914712 [A/C] NM_000059 BRCA2 EXON Missense_H2074N exm1062041 13 32914809 [T/C] NM_000059 BRCA2 EXON Missense_L2106P exm1062042 13 32914814 [T/C] NM_000059 BRCA2 EXON Missense_R2108C exm1062043 13 32914815 [A/G] NM_000059 BRCA2 EXON Missense_R2108H exm2221593 13 32914817 [A/G] NM_000059 BRCA2 EXON Missense_V2109I exm1062045 13 32914839 [A/G] NM_000059 BRCA2 EXON Missense_H2116R exm1062047 13 32914904 [T/G] NM_000059 BRCA2 EXON Missense_V2138F exm1062049 13 32914920 [T/C] NM_000059 BRCA2 EXON Missense_S2143L exm1062051 13 32914947 [A/C] NM_000059 BRCA2 EXON Missense_S2152Y exm1062062 13 32915240 [A/G] NM_000059 BRCA2 EXON Missense_T2250A exm1062064 13 32915295 [A/G] NM_000059 BRCA2 EXON Missense_R2268K exm1062065 13 32915313 [T/G] NM_000059 BRCA2 EXON Missense_G2274V exm1062071 13 32929007 [C/G] NM_000059 BRCA2 EXON Missense_K2339N exm1062077 13 32929140 [A/C] NM_000059 BRCA2 EXON Missense_Q2384K exm1062081 13 32929309 [A/G] NM_000059 BRCA2 EXON Missense_H2440R exm1062084 13 32929387 [T/C] NM_000059 BRCA2 EXON Missense_V2466A exm1062089 13 32930598 [T/C] NM_000059 BRCA2 EXON Missense_I2490T exm1062090 13 32930633 [T/C] NM_000059 BRCA2 EXON Missense_R2502C exm1062092 13 32930673 [T/C] NM_000059 BRCA2 EXON Missense_T2515I exm1062093 13 32930687 [T/C] NM_000059 BRCA2 EXON Nonsense_R2520X exm1794978 13 32930730 [T/C] NM_000059 BRCA2 EXON Missense_A2534V exm1062094 13 32930745 [A/G] NM_000059 BRCA2 EXON Missense_Q2539R exm1062109 13 32937333 [A/G] NM_000059 BRCA2 EXON Missense_D2665G exm1062116 13 32937488 [T/G] NM_000059 BRCA2 EXON Missense_A2717S exm1062119 13 32937521 [A/G] NM_000059 BRCA2 EXON Missense_V2728I exm1062120 13 32937526 [T/G] NM_000059 BRCA2 EXON Missense_K2729N exm1062132 13 32945172 [A/C] NM_000059 BRCA2 EXON Missense_E2856A exm-rs4942486 13 32953388 [T/C] NM_000059 BRCA2 Silent exm1062139 13 32953529 [T/A] NM_000059 BRCA2 EXON Missense_I2944F exm1062140 13 32953549 [T/G] NM_000059 BRCA2 EXON Missense_K2950N exm1062141 13 32953550 [A/G] NM_000059 BRCA2 EXON Missense_A2951T exm1062144 13 32953604 [A/G] NM_000059 BRCA2 EXON Missense_V2969M exm1062152 13 32953971 [T/C] NM_000059 BRCA2 EXON Missense_T3013I exm1062160 13 32954261 [A/G] NM_000059 BRCA2 EXON Missense_V3079I exm1062165 13 32968861 [T/C] NM_000059 BRCA2 EXON Missense_Y3098H exm1062166 13 32968922 [T/C] NM_000059 BRCA2 EXON Missense_M3118T exm1062178 13 32971119 [A/G] NM_000059 BRCA2 EXON Missense_K3196E exm1062179 13 32971167 [C/G] NM_000059 BRCA2 EXON Missense_G3212R exm2251403 13 32972370 [T/C] NM_000059 BRCA2 EXON Synonymous_V3240V exm1795019 13 32972380 [A/G] NM_000059 BRCA2 EXON Missense_V3244I exm1062181 13 32972420 [A/G] NM_000059 BRCA2 EXON Missense_K3257R exm1062184 13 32972522 [C/G] NM_000059 BRCA2 EXON Missense_S3291C exm1062190 13 32972626 [T/A] NM_000059 BRCA2 EXON Nonsense_K3326X exm1062195 13 32972771 [T/C] NM_000059 BRCA2 EXON Missense_T3374I exm1062201 13 32972852 [T/C] NM_000059 BRCA2 EXON Missense_T3401M exm1062203 13 32972884 [A/G] NM_000059 BRCA2 EXON Missense_I3412V exm1062208 13 32977099 [T/C] NM_052818,NM_001079691 N4BP2L1,N4BP2L1 EXON Missense_G238S,Silent exm1062235 13 33016603 [T/G] NM_033111 N4BP2L2 EXON Missense_R691S exm1795036 13 33016605 [T/C] NM_033111 N4BP2L2 EXON Missense_Y690C exm1062237 13 33016660 [T/C] NM_033111 N4BP2L2 EXON Missense_E672K exm1062242 13 33016819 [T/C] NM_033111 N4BP2L2 EXON Missense_T619A exm1062246 13 33017043 [T/C] NM_033111 N4BP2L2 EXON Missense_N544S exm1062249 13 33017112 [T/A] NM_033111 N4BP2L2 EXON Missense_N521I exm1062250 13 33017158 [T/G] NM_033111 N4BP2L2 EXON Missense_R506S exm2221599 13 33017274 [T/C] NM_033111 N4BP2L2 EXON Missense_S467N exm1062254 13 33017359 [T/A] NM_033111 N4BP2L2 EXON Missense_T439S exm1795043 13 33017539 [A/G] NM_033111 N4BP2L2 EXON Missense_S379P exm1062263 13 33017695 [A/C] NM_033111 N4BP2L2 EXON Missense_V327L exm1062265 13 33017758 [T/C] NM_033111 N4BP2L2 EXON Missense_A306T exm1062267 13 33017869 [T/C] NM_033111 N4BP2L2 EXON Missense_N269D exm1062268 13 33017937 [T/A] NM_033111 N4BP2L2 EXON Missense_D246V exm1062276 13 33018121 [A/C] NM_033111 N4BP2L2 EXON Missense_D185Y exm1062279 13 33018228 [G/C] NM_033111 N4BP2L2 EXON Missense_S149T exm2251404 13 33045639 [A/G] NM_033111 N4BP2L2 Silent exm1062290 13 33092117 [T/C] NM_033111,NM_014887 N4BP2L2,N4BP2L2 EXON Missense_R96Q,Missense_R525Q exm1062300 13 33101574 [T/C] NM_033111,NM_014887 N4BP2L2,N4BP2L2 EXON Silent,Missense_G452D exm1062309 13 33110134 [T/C] NM_033111,NM_014887 N4BP2L2,N4BP2L2 EXON Silent,Missense_R344K exm1062318 13 33110351 [A/G] NM_033111,NM_014887 N4BP2L2,N4BP2L2 EXON Silent,Missense_Y272H exm1062321 13 33110381 [T/G] NM_033111,NM_014887 N4BP2L2,N4BP2L2 EXON Silent,Missense_T262P exm1062322 13 33110389 [A/G] NM_033111,NM_014887 N4BP2L2,N4BP2L2 EXON Silent,Missense_T259I exm1062326 13 33110539 [A/C] NM_033111,NM_014887 N4BP2L2,N4BP2L2 EXON Silent,Missense_G209V exm1062338 13 33110768 [T/C] NM_033111,NM_014887 N4BP2L2,N4BP2L2 EXON Silent,Missense_K133E exm1062339 13 33110815 [T/C] NM_033111,NM_014887 N4BP2L2,N4BP2L2 EXON Silent,Missense_Y117C exm1062341 13 33110831 [T/C] NM_033111,NM_014887 N4BP2L2,N4BP2L2 EXON Silent,Missense_A112T exm1062346 13 33110905 [T/G] NM_033111,NM_014887 N4BP2L2,N4BP2L2 EXON Silent,Missense_P87H exm1062347 13 33110929 [T/C] NM_033111,NM_014887 N4BP2L2,N4BP2L2 EXON Silent,Missense_H79R exm1062355 13 33111077 [T/C] NM_033111,NM_014887 N4BP2L2,N4BP2L2 EXON Silent,Missense_T30A exm-rs7332115 13 33147548 [T/G] exm1062368 13 33233346 [A/G] NM_015032 PDS5B EXON Missense_I185V exm1062378 13 33250067 [A/C] NM_015032 PDS5B EXON Missense_N311K exm1795091 13 33252994 [A/G] NM_015032 PDS5B EXON Missense_I329V exm1062384 13 33261295 [A/C] NM_015032 PDS5B EXON Missense_M410L exm1062388 13 33262648 [A/G] NM_015032 PDS5B EXON Missense_T471A exm1062399 13 33284147 [T/G] NM_015032 PDS5B EXON Missense_C676F exm1062417 13 33320238 [T/C] NM_015032 PDS5B EXON Synonymous_N912N exm1062427 13 33332344 [T/C] NM_015032 PDS5B EXON Missense_A1059V exm1062437 13 33334768 [A/G] NM_015032 PDS5B EXON Missense_K1143R exm1062445 13 33344259 [A/T] NM_015032 PDS5B EXON Missense_S1209T exm1062458 13 33344456 [A/G] NM_015032 PDS5B EXON Missense_I1274M exm1062463 13 33344644 [T/C] NM_015032 PDS5B EXON Missense_T1337M exm1062465 13 33344806 [T/A] NM_015032 PDS5B EXON Missense_E1360V exm2260193 13 33431045 [A/G] NR_047020 LINC00423 Silent exm-rs576674 13 33554302 [A/G] exm-rs211252 13 33584957 [T/C] exm1062499 13 33590971 [A/C] NM_004795 KL EXON Missense_N131K exm1062508 13 33591185 [T/G] NM_004795 KL EXON Missense_A203S exm1062510 13 33591192 [A/G] NM_004795 KL EXON Missense_G205D exm1062532 13 33628051 [A/G] NM_004795 KL EXON Missense_V323I exm1062537 13 33628138 [T/G] NM_004795 KL EXON Missense_F352V exm1062544 13 33628235 [T/C] NM_004795 KL EXON Missense_M384T exm1062558 13 33629393 [T/C] NM_004795 KL EXON Missense_P514S exm1062573 13 33635089 [A/G] NM_004795 KL EXON Missense_E625K exm1062576 13 33635161 [T/C] NM_004795 KL EXON Missense_R649C exm1062582 13 33635285 [T/C] NM_004795 KL EXON Missense_P690L exm1062594 13 33635512 [A/G] NM_004795 KL EXON Missense_G766S exm1062608 13 33635787 [A/C] NM_004795 KL EXON Missense_N857K exm1062609 13 33635794 [A/G] NM_004795 KL EXON Missense_K860E exm1062615 13 33635842 [A/G] NM_004795 KL EXON Missense_D876N exm1062634 13 33638279 [A/C] NM_004795 KL EXON Missense_L999I exm1062635 13 33638292 [A/G] NM_004795 KL EXON Missense_Y1003C exm1062651 13 33684035 [A/G] NM_178007,NM_178006,NM_052851,NM_001243476 STARD13,STARD13,STARD13,STARD13 EXON Missense_P1000S,Missense_P1008S,Missense_P890S,Missense_P973S exm1795226 13 33684151 [T/C] NM_178007,NM_178006,NM_052851,NM_001243476 STARD13,STARD13,STARD13,STARD13 EXON Missense_R961H,Missense_R969H,Missense_R851H,Missense_R934H exm1062663 13 33684218 [T/C] NM_178007,NM_178006,NM_052851,NM_001243476 STARD13,STARD13,STARD13,STARD13 EXON Missense_G939R,Missense_G947R,Missense_G829R,Missense_G912R exm1062664 13 33684221 [T/C] NM_178007,NM_178006,NM_052851,NM_001243476 STARD13,STARD13,STARD13,STARD13 EXON Missense_D938N,Missense_D946N,Missense_D828N,Missense_D911N exm1062673 13 33684987 [T/C] NM_178007,NM_178006,NM_052851,NM_001243476 STARD13,STARD13,STARD13,STARD13 EXON Missense_V881M,Missense_V889M,Missense_V771M,Missense_V854M exm1062679 13 33685035 [T/C] NM_178007,NM_178006,NM_052851,NM_001243476 STARD13,STARD13,STARD13,STARD13 EXON Missense_E865K,Missense_E873K,Missense_E755K,Missense_E838K exm1062693 13 33686967 [C/G] NM_178007,NM_178006,NM_052851,NM_001243476 STARD13,STARD13,STARD13,STARD13 EXON Missense_D787H,Missense_D795H,Missense_D677H,Missense_D760H exm2276292 13 33686980 [A/C] NM_178007,NM_178006,NM_052851,NM_001243476 STARD13,STARD13,STARD13,STARD13 EXON Missense_L782F,Missense_L790F,Missense_L672F,Missense_L755F exm1062704 13 33692335 [T/G] NM_178007,NM_178006,NM_052851,NM_001243476,NM_001243466,NM_001243474 STARD13,STARD13,STARD13,STARD13,STARD13,STARD13 EXON Missense_N708K,Missense_N716K,Missense_N598K,Missense_N681K,Silent,Missense_N598K exm1062706 13 33692376 [T/C] NM_178007,NM_178006,NM_052851,NM_001243476,NM_001243466,NM_001243474 STARD13,STARD13,STARD13,STARD13,STARD13,STARD13 EXON Missense_V695M,Missense_V703M,Missense_V585M,Missense_V668M,Synonymous_E687E,Missense_V585M exm-rs9315204 13 33693837 [T/C] NM_178007,NM_178006,NM_052851,NM_001243476,NM_001243466,NM_001243474 STARD13,STARD13,STARD13,STARD13,STARD13,STARD13 Silent,Silent,Silent,Silent,Silent,Silent exm1062722 13 33701586 [A/G] NM_178007,NM_178006,NM_052851,NM_001243476,NM_001243466,NM_001243474 STARD13,STARD13,STARD13,STARD13,STARD13,STARD13 EXON Missense_L608F,Missense_L616F,Missense_L498F,Missense_L581F,Missense_L608F,Missense_L498F exm1062724 13 33701606 [A/G] NM_178007,NM_178006,NM_052851,NM_001243476,NM_001243466,NM_001243474 STARD13,STARD13,STARD13,STARD13,STARD13,STARD13 EXON Missense_T601M,Missense_T609M,Missense_T491M,Missense_T574M,Missense_T601M,Missense_T491M exm1062726 13 33701639 [A/G] NM_178007,NM_178006,NM_052851,NM_001243476,NM_001243466,NM_001243474 STARD13,STARD13,STARD13,STARD13,STARD13,STARD13 EXON Missense_P590L,Missense_P598L,Missense_P480L,Missense_P563L,Missense_P590L,Missense_P480L exm1062734 13 33703177 [A/G] NM_178007,NM_178006,NM_052851,NM_001243476,NM_001243466,NM_001243474 STARD13,STARD13,STARD13,STARD13,STARD13,STARD13 EXON Missense_T538M,Missense_T546M,Missense_T428M,Missense_T511M,Missense_T538M,Missense_T428M exm1062735 13 33703180 [T/C] NM_178007,NM_178006,NM_052851,NM_001243476,NM_001243466,NM_001243474 STARD13,STARD13,STARD13,STARD13,STARD13,STARD13 EXON Missense_R537Q,Missense_R545Q,Missense_R427Q,Missense_R510Q,Missense_R537Q,Missense_R427Q exm1062737 13 33703240 [A/G] NM_178007,NM_178006,NM_052851,NM_001243476,NM_001243466,NM_001243474 STARD13,STARD13,STARD13,STARD13,STARD13,STARD13 EXON Missense_T517I,Missense_T525I,Missense_T407I,Missense_T490I,Missense_T517I,Missense_T407I exm1062739 13 33703274 [C/G] NM_178007,NM_178006,NM_052851,NM_001243476,NM_001243466,NM_001243474 STARD13,STARD13,STARD13,STARD13,STARD13,STARD13 EXON Missense_H506D,Missense_H514D,Missense_H396D,Missense_H479D,Missense_H506D,Missense_H396D exm1062754 13 33703450 [T/C] NM_178007,NM_178006,NM_052851,NM_001243476,NM_001243466,NM_001243474 STARD13,STARD13,STARD13,STARD13,STARD13,STARD13 EXON Missense_R447Q,Missense_R455Q,Missense_R337Q,Missense_R420Q,Missense_R447Q,Missense_R337Q exm1062756 13 33703471 [A/G] NM_178007,NM_178006,NM_052851,NM_001243476,NM_001243466,NM_001243474 STARD13,STARD13,STARD13,STARD13,STARD13,STARD13 EXON Missense_A440V,Missense_A448V,Missense_A330V,Missense_A413V,Missense_A440V,Missense_A330V exm1062762 13 33703495 [T/C] NM_178007,NM_178006,NM_052851,NM_001243476,NM_001243466,NM_001243474 STARD13,STARD13,STARD13,STARD13,STARD13,STARD13 EXON Missense_G432D,Missense_G440D,Missense_G322D,Missense_G405D,Missense_G432D,Missense_G322D exm-rs495680 13 33703656 [T/C] NM_178007,NM_178006,NM_052851,NM_001243476,NM_001243466,NM_001243474 STARD13,STARD13,STARD13,STARD13,STARD13,STARD13 EXON Synonymous_E378E,Synonymous_E386E,Synonymous_E268E,Synonymous_E351E,Synonymous_E378E,Synonymous_E268E exm1062769 13 33703666 [C/G] NM_178007,NM_178006,NM_052851,NM_001243476,NM_001243466,NM_001243474 STARD13,STARD13,STARD13,STARD13,STARD13,STARD13 EXON Missense_R375P,Missense_R383P,Missense_R265P,Missense_R348P,Missense_R375P,Missense_R265P exm1062771 13 33703702 [A/G] NM_178007,NM_178006,NM_052851,NM_001243476,NM_001243466,NM_001243474 STARD13,STARD13,STARD13,STARD13,STARD13,STARD13 EXON Missense_A363V,Missense_A371V,Missense_A253V,Missense_A336V,Missense_A363V,Missense_A253V exm1062773 13 33703738 [T/C] NM_178007,NM_178006,NM_052851,NM_001243476,NM_001243466,NM_001243474 STARD13,STARD13,STARD13,STARD13,STARD13,STARD13 EXON Missense_R351H,Missense_R359H,Missense_R241H,Missense_R324H,Missense_R351H,Missense_R241H exm1062780 13 33703798 [T/C] NM_178007,NM_178006,NM_052851,NM_001243476,NM_001243466,NM_001243474 STARD13,STARD13,STARD13,STARD13,STARD13,STARD13 EXON Missense_S331N,Missense_S339N,Missense_S221N,Missense_S304N,Missense_S331N,Missense_S221N exm1062795 13 33703997 [T/C] NM_178007,NM_178006,NM_052851,NM_001243476,NM_001243466,NM_001243474 STARD13,STARD13,STARD13,STARD13,STARD13,STARD13 EXON Missense_G265R,Missense_G273R,Missense_G155R,Missense_G238R,Missense_G265R,Missense_G155R exm1062796 13 33704029 [T/C] NM_178007,NM_178006,NM_052851,NM_001243476,NM_001243466,NM_001243474 STARD13,STARD13,STARD13,STARD13,STARD13,STARD13 EXON Missense_R254H,Missense_R262H,Missense_R144H,Missense_R227H,Missense_R254H,Missense_R144H exm1062797 13 33704030 [A/G] NM_178007,NM_178006,NM_052851,NM_001243476,NM_001243466,NM_001243474 STARD13,STARD13,STARD13,STARD13,STARD13,STARD13 EXON Missense_R254C,Missense_R262C,Missense_R144C,Missense_R227C,Missense_R254C,Missense_R144C exm1062801 13 33704059 [A/G] NM_178007,NM_178006,NM_052851,NM_001243476,NM_001243466,NM_001243474 STARD13,STARD13,STARD13,STARD13,STARD13,STARD13 EXON Missense_T244M,Missense_T252M,Missense_T134M,Missense_T217M,Missense_T244M,Missense_T134M exm1062803 13 33704065 [T/C] NM_178007,NM_178006,NM_052851,NM_001243476,NM_001243466,NM_001243474 STARD13,STARD13,STARD13,STARD13,STARD13,STARD13 EXON Missense_K242R,Missense_K250R,Missense_K132R,Missense_K215R,Missense_K242R,Missense_K132R exm1062808 13 33704132 [T/C] NM_178007,NM_178006,NM_052851,NM_001243476,NM_001243466,NM_001243474 STARD13,STARD13,STARD13,STARD13,STARD13,STARD13 EXON Missense_V220I,Missense_V228I,Missense_V110I,Missense_V193I,Missense_V220I,Missense_V110I exm1062810 13 33704155 [A/G] NM_178007,NM_178006,NM_052851,NM_001243476,NM_001243466,NM_001243474 STARD13,STARD13,STARD13,STARD13,STARD13,STARD13 EXON Missense_P212L,Missense_P220L,Missense_P102L,Missense_P185L,Missense_P212L,Missense_P102L exm1795262 13 33704179 [A/G] NM_178007,NM_178006,NM_052851,NM_001243476,NM_001243466,NM_001243474 STARD13,STARD13,STARD13,STARD13,STARD13,STARD13 EXON Missense_P204L,Missense_P212L,Missense_P94L,Missense_P177L,Missense_P204L,Missense_P94L exm1062818 13 33704275 [A/G] NM_178007,NM_178006,NM_052851,NM_001243476,NM_001243466,NM_001243474 STARD13,STARD13,STARD13,STARD13,STARD13,STARD13 EXON Missense_T172M,Missense_T180M,Missense_T62M,Missense_T145M,Missense_T172M,Missense_T62M exm1062820 13 33704290 [A/G] NM_178007,NM_178006,NM_052851,NM_001243476,NM_001243466,NM_001243474 STARD13,STARD13,STARD13,STARD13,STARD13,STARD13 EXON Missense_T167M,Missense_T175M,Missense_T57M,Missense_T140M,Missense_T167M,Missense_T57M exm1062825 13 33704348 [T/C] NM_178007,NM_178006,NM_052851,NM_001243476,NM_001243466,NM_001243474 STARD13,STARD13,STARD13,STARD13,STARD13,STARD13 EXON Missense_V148M,Missense_V156M,Missense_V38M,Missense_V121M,Missense_V148M,Missense_V38M exm2267508 13 33704651 [A/G] NM_178007,NM_178006,NM_052851,NM_001243476,NM_001243466,NM_001243474 STARD13,STARD13,STARD13,STARD13,STARD13,STARD13 Silent,Silent,Silent,Silent,Silent,Silent exm1062832 13 33716454 [T/C] NM_178007,NM_178006,NM_052851,NM_001243476,NM_001243466,NM_001243474 STARD13,STARD13,STARD13,STARD13,STARD13,STARD13 EXON Missense_R119K,Missense_R127K,Missense_R9K,Missense_R92K,Missense_R119K,Missense_R9K exm1062836 13 33739495 [T/C] NM_178007,NM_178006,NM_052851,NM_001243476,NM_001243466,NM_001243474 STARD13,STARD13,STARD13,STARD13,STARD13,STARD13 EXON Missense_D93G,Missense_D101G,Silent,Missense_D66G,Missense_D93G,Silent exm1062856 13 33859735 [T/C] NM_178006,NM_001243476 STARD13,STARD13 EXON Missense_Y14C,Silent exm-rs2764020 13 34234642 [T/C] NM_001243476 STARD13 Silent exm2267509 13 34318605 [A/G] exm1062877 13 34399945 [T/C] NM_002915,NM_181558 RFC3,RFC3 EXON Nonsense_R105X,Nonsense_R105X exm1062886 13 34404147 [T/C] NM_002915,NM_181558 RFC3,RFC3 EXON Missense_I189T,Missense_I189T exm1062887 13 34404865 [A/G] NM_002915,NM_181558 RFC3,RFC3 EXON Missense_V195M,Missense_V195M exm2267593 13 34491838 [A/G] NM_181558 RFC3 Silent exm-rs690705 13 34654918 [A/G] exm2267510 13 34710780 [A/G] exm-rs636437 13 34931307 [A/G] exm2260195 13 35126337 [A/G] NR_047036 LINC00457 Silent exm-rs9572094 13 35252882 [T/C] exm2271919 13 35328474 [T/G] exm1062922 13 35517220 [A/G] NM_015678 NBEA EXON Missense_N88S exm1795419 13 35733549 [T/A] NM_015678 NBEA EXON Missense_L1081I exm1795427 13 35734132 [A/G] NM_015678 NBEA EXON Missense_K1275R exm1062994 13 35734141 [A/G] NM_015678 NBEA EXON Missense_R1278Q exm1063004 13 35736040 [A/G] NM_015678 NBEA EXON Missense_M1339V exm1063018 13 35745410 [T/C] NM_015678 NBEA EXON Missense_T1415M exm1063024 13 35747681 [A/G] NM_015678 NBEA EXON Missense_S1502G exm2274648 13 35751178 [A/C] NM_015678 NBEA EXON Missense_P1534T exm1063026 13 35751209 [A/G] NM_015678 NBEA EXON Missense_N1544S exm1063032 13 35770048 [A/G] NM_015678 NBEA EXON Missense_T1659A exm1063033 13 35770061 [A/G] NM_015678 NBEA EXON Missense_D1663G exm1063034 13 35770069 [A/G] NM_015678 NBEA EXON Missense_V1666I exm1063036 13 35770154 [A/G] NM_015678 NBEA EXON Missense_S1694N exm1063055 13 35782905 [A/C] NM_015678 NBEA EXON Missense_T1812N exm1063058 13 35782938 [G/C] NM_015678 NBEA EXON Missense_S1823C exm2267511 13 35986558 [A/G] NM_015678 NBEA Silent exm1063074 13 36006414 [A/G] NM_015678 NBEA EXON Missense_H2063R exm1063077 13 36006522 [T/C] NM_015678 NBEA EXON Missense_I2099T exm1063079 13 36026279 [A/G] NM_015678 NBEA EXON Missense_I2119V exm1063095 13 36049456 [T/C] NM_015678,NM_005584,NR_031646 NBEA,MAB21L1,MIR548F5 EXON Silent,Missense_M274V,Silent exm1063098 13 36049545 [G/C] NM_015678,NM_005584,NR_031646 NBEA,MAB21L1,MIR548F5 EXON Silent,Missense_G244A,Silent exm1063115 13 36050092 [A/G] NM_015678,NM_005584,NR_031646 NBEA,MAB21L1,MIR548F5 EXON Silent,Missense_R62C,Silent exm1063118 13 36050259 [A/G] NM_015678,NM_005584,NR_031646 NBEA,MAB21L1,MIR548F5 EXON Silent,Missense_A6V,Silent exm1063120 13 36050271 [A/G] NM_015678,NM_005584,NR_031646 NBEA,MAB21L1,MIR548F5 EXON Silent,Missense_I2T,Silent exm2260196 13 36122567 [T/C] NM_015678,NR_031646,NM_001204197 NBEA,MIR548F5,NBEA Silent,Silent,Silent exm1063121 13 36124614 [A/G] NM_015678,NR_031646,NM_001204197 NBEA,MIR548F5,NBEA EXON Missense_V2196I,Silent,Silent exm1063136 13 36158038 [A/G] NM_015678,NR_031646,NM_001204197 NBEA,MIR548F5,NBEA EXON Missense_I2347V,Silent,Missense_I140V exm-rs1777672 13 36177819 [A/G] NM_015678,NR_031646,NM_001204197 NBEA,MIR548F5,NBEA Silent,Silent,Silent exm1063141 13 36202269 [A/G] NM_015678,NR_031646,NM_001204197 NBEA,MIR548F5,NBEA EXON Missense_I2501V,Silent,Missense_I294V exm1795516 13 36202359 [A/G] NM_015678,NR_031646,NM_001204197 NBEA,MIR548F5,NBEA EXON Missense_S2531G,Silent,Missense_S324G exm1063146 13 36220430 [T/C] NM_015678,NR_031646,NM_001204197 NBEA,MIR548F5,NBEA EXON Missense_T2551M,Silent,Missense_T344M exm1063170 13 36239272 [T/G] NM_015678,NR_031646,NM_001204197 NBEA,MIR548F5,NBEA EXON Missense_V2784F,Silent,Missense_V577F exm1063172 13 36241588 [T/C] NM_015678,NR_031646,NM_001204197 NBEA,MIR548F5,NBEA EXON Missense_R2827C,Silent,Missense_R620C exm2251413 13 36258899 [T/C] NR_031646 MIR548F5 Silent exm1063183 13 36348763 [A/G] NR_031646,NM_001195415,NM_001195416,NM_004734 MIR548F5,DCLK1,DCLK1,DCLK1 EXON Silent,Silent,Missense_A404V,Silent exm1063184 13 36348808 [A/C] NR_031646,NM_001195415,NM_001195416,NM_004734 MIR548F5,DCLK1,DCLK1,DCLK1 EXON Silent,Missense_F414V,Missense_V389G,Missense_F721V exm1063195 13 36379836 [A/G] NR_031646,NM_001195415,NM_001195416,NM_004734 MIR548F5,DCLK1,DCLK1,DCLK1 EXON Silent,Synonymous_N341N,Synonymous_N341N,Synonymous_N648N exm1063237 13 36424903 [T/C] NR_031646,NM_001195415,NM_001195416,NM_004734,NM_001195430 MIR548F5,DCLK1,DCLK1,DCLK1,DCLK1 EXON Silent,Silent,Silent,Silent,Missense_R42H exm1063241 13 36428667 [G/C] NR_031646,NM_001195415,NM_001195416,NM_004734,NM_001195430 MIR548F5,DCLK1,DCLK1,DCLK1,DCLK1 EXON Silent,Missense_P28R,Missense_P28R,Missense_P335R,Missense_P28R exm-rs1926320 13 36652617 [T/C] NM_004734 DCLK1 Silent exm-rs9315385 13 36663302 [T/G] NM_004734 DCLK1 Silent exm1063255 13 36686229 [A/G] NM_004734 DCLK1 EXON Missense_A167V exm2251416 13 36743177 [T/C] NM_001198910,NM_017826 CCDC169-SOHLH2,SOHLH2 EXON Synonymous_A501A,Synonymous_A424A exm1063272 13 36744720 [T/C] NM_001198910,NM_017826 CCDC169-SOHLH2,SOHLH2 EXON Missense_R479Q,Missense_R402Q exm1795591 13 36744741 [A/G] NM_001198910,NM_017826 CCDC169-SOHLH2,SOHLH2 EXON Missense_P472L,Missense_P395L exm1063281 13 36744910 [T/C] NM_001198910,NM_017826 CCDC169-SOHLH2,SOHLH2 EXON Missense_A416T,Missense_A339T exm1063289 13 36748614 [A/G] NM_001198910,NM_017826 CCDC169-SOHLH2,SOHLH2 EXON Missense_R371W,Missense_R294W exm1063292 13 36748870 [T/C] NM_001198910,NM_017826 CCDC169-SOHLH2,SOHLH2 EXON Missense_V337I,Missense_V260I exm1063294 13 36748899 [T/C] NM_001198910,NM_017826 CCDC169-SOHLH2,SOHLH2 EXON Missense_K327R,Missense_K250R exm1063296 13 36748957 [T/C] NM_001198910,NM_017826 CCDC169-SOHLH2,SOHLH2 EXON Missense_V308I,Missense_V231I exm1063324 13 36776061 [C/G] NM_001198910,NM_017826 CCDC169-SOHLH2,SOHLH2 EXON Missense_P150R,Missense_P73R exm1063332 13 36776175 [A/G] NM_001198910,NM_017826 CCDC169-SOHLH2,SOHLH2 EXON Missense_T112I,Missense_T35I exm2271921 13 36789636 [T/C] NM_001198910 CCDC169-SOHLH2 Silent exm1063341 13 36801415 [T/C] NM_001198910,NM_001144982,NM_001144983,NM_001198908,NM_001144984 CCDC169-SOHLH2,CCDC169,CCDC169,CCDC169,CCDC169 EXON Silent,Missense_G115R,Missense_G115R,Missense_G217R,Missense_G117R exm2221616 13 36801435 [C/G] NM_001198910,NM_001144982,NM_001144983,NM_001198908,NM_001144984 CCDC169-SOHLH2,CCDC169,CCDC169,CCDC169,CCDC169 EXON Silent,Missense_P108R,Missense_P108R,Missense_P210R,Missense_P110R exm1063345 13 36822743 [A/G] NM_001198910,NM_001144982,NM_001144983,NM_001198908,NM_001144984,NM_001144986,NM_001144981,NM_001144985 CCDC169-SOHLH2,CCDC169,CCDC169,CCDC169,CCDC169,CCDC169,CCDC169,CCDC169 EXON Missense_T82I,Missense_T80I,Missense_T80I,Missense_T182I,Missense_T82I,Missense_T80I,Missense_T182I,Missense_T80I exm1063349 13 36827969 [A/G] NM_001198910,NM_001144982,NM_001144983,NM_001198908,NM_001144984,NM_001144986,NM_001144981,NM_001144985 CCDC169-SOHLH2,CCDC169,CCDC169,CCDC169,CCDC169,CCDC169,CCDC169,CCDC169 EXON Missense_R47C,Missense_R45C,Missense_R45C,Missense_R147C,Missense_R47C,Missense_R45C,Missense_R147C,Missense_R45C exm1063352 13 36828237 [T/C] NM_001198910,NM_001144982,NM_001144983,NM_001198908,NM_001144984,NM_001144986,NM_001144981,NM_001144985 CCDC169-SOHLH2,CCDC169,CCDC169,CCDC169,CCDC169,CCDC169,CCDC169,CCDC169 EXON Missense_K20R,Missense_K18R,Missense_K18R,Missense_K120R,Missense_K20R,Missense_K18R,Missense_K120R,Missense_K18R exm1063363 13 36878504 [T/A] NM_001142296,NM_001142294,NM_015087,NM_001142295 SPG20,SPG20,SPG20,SPG20 EXON Missense_X667R,Missense_X667R,Missense_X667R,Missense_X667R exm1063367 13 36878564 [T/C] NM_001142296,NM_001142294,NM_015087,NM_001142295 SPG20,SPG20,SPG20,SPG20 EXON Missense_V647M,Missense_V647M,Missense_V647M,Missense_V647M exm1795611 13 36878708 [A/C] NM_001142296,NM_001142294,NM_015087,NM_001142295 SPG20,SPG20,SPG20,SPG20 EXON Missense_V599L,Missense_V599L,Missense_V599L,Missense_V599L exm2221617 13 36878734 [A/G] NM_001142296,NM_001142294,NM_015087,NM_001142295 SPG20,SPG20,SPG20,SPG20 EXON Missense_A590V,Missense_A590V,Missense_A590V,Missense_A590V exm1063390 13 36888471 [T/C] NM_001142296,NM_001142294,NM_015087,NM_001142295 SPG20,SPG20,SPG20,SPG20 EXON Missense_R459Q,Missense_R459Q,Missense_R459Q,Missense_R459Q exm1063395 13 36900828 [T/C] NM_001142296,NM_001142294,NM_015087,NM_001142295 SPG20,SPG20,SPG20,SPG20 EXON Missense_D391G,Missense_D391G,Missense_D391G,Missense_D391G exm1063400 13 36903533 [T/A] NM_001142296,NM_001142294,NM_015087,NM_001142295 SPG20,SPG20,SPG20,SPG20 EXON Missense_K377M,Missense_K377M,Missense_K377M,Missense_K377M exm1063430 13 36909469 [A/G] NM_001142296,NM_001142294,NM_015087,NM_001142295 SPG20,SPG20,SPG20,SPG20 EXON Missense_P167S,Missense_P167S,Missense_P167S,Missense_P167S exm1063433 13 36909502 [A/G] NM_001142296,NM_001142294,NM_015087,NM_001142295 SPG20,SPG20,SPG20,SPG20 EXON Missense_P156S,Missense_P156S,Missense_P156S,Missense_P156S exm1063436 13 36909607 [A/C] NM_001142296,NM_001142294,NM_015087,NM_001142295 SPG20,SPG20,SPG20,SPG20 EXON Missense_D121Y,Missense_D121Y,Missense_D121Y,Missense_D121Y exm1063459 13 37006837 [A/G] NM_001111047,NM_001111046,NM_001111045,NM_003914 CCNA1,CCNA1,CCNA1,CCNA1 EXON Silent,Silent,Missense_G27R,Missense_G27R exm1063476 13 37011893 [T/A] NM_001111047,NM_001111046,NM_001111045,NM_003914 CCNA1,CCNA1,CCNA1,CCNA1 EXON Missense_L98Q,Missense_L98Q,Missense_L141Q,Missense_L142Q exm1795637 13 37012007 [A/G] NM_001111047,NM_001111046,NM_001111045,NM_003914 CCNA1,CCNA1,CCNA1,CCNA1 EXON Missense_N136S,Missense_N136S,Missense_N179S,Missense_N180S exm1063492 13 37012869 [A/G] NM_001111047,NM_001111046,NM_001111045,NM_003914 CCNA1,CCNA1,CCNA1,CCNA1 EXON Missense_E209G,Missense_E209G,Missense_E252G,Missense_E253G exm1063497 13 37013004 [T/C] NM_001111047,NM_001111046,NM_001111045,NM_003914 CCNA1,CCNA1,CCNA1,CCNA1 EXON Missense_S254L,Missense_S254L,Missense_S297L,Missense_S298L exm1063501 13 37014187 [A/G] NM_001111047,NM_001111046,NM_001111045,NM_003914 CCNA1,CCNA1,CCNA1,CCNA1 EXON Missense_R278Q,Missense_R278Q,Missense_R321Q,Missense_R322Q exm1063502 13 37014255 [A/G] NM_001111047,NM_001111046,NM_001111045,NM_003914 CCNA1,CCNA1,CCNA1,CCNA1 EXON Missense_N301D,Missense_N301D,Missense_N344D,Missense_N345D exm1063503 13 37014257 [A/C] NM_001111047,NM_001111046,NM_001111045,NM_003914 CCNA1,CCNA1,CCNA1,CCNA1 EXON Missense_N301K,Missense_N301K,Missense_N344K,Missense_N345K exm1063511 13 37016381 [T/C] NM_001111047,NM_001111046,NM_001111045,NM_003914 CCNA1,CCNA1,CCNA1,CCNA1 EXON Missense_A385V,Missense_A385V,Missense_A428V,Missense_A429V exm2260197 13 37178919 [T/G] exm2271922 13 37250048 [T/C] NM_203451 SERTM1 Silent exm2221622 13 37269043 [A/T] NM_203451 SERTM1 EXON Silent exm2221623 13 37269282 [T/G] NM_203451 SERTM1 EXON Missense_F23V exm1063541 13 37393904 [T/C] NM_000538 RFXAP EXON Missense_M137T exm2274649 13 37393924 [A/G] NM_000538 RFXAP EXON Missense_E144K exm1063542 13 37393950 [C/G] NM_000538 RFXAP EXON Missense_Q152H exm1063546 13 37394037 [C/G] NM_000538 RFXAP EXON Missense_Q181H exm2251419 13 37399663 [A/G] NM_000538 RFXAP EXON Synonymous_Q233Q exm1063558 13 37401859 [A/G] NM_000538 RFXAP EXON Missense_R263K exm1063575 13 37427699 [T/C] NM_001127217,NM_005905 SMAD9,SMAD9 EXON Missense_V373I,Missense_V336I exm1063581 13 37427792 [T/C] NM_001127217,NM_005905 SMAD9,SMAD9 EXON Missense_G342R,Missense_G305R exm1063582 13 37427805 [C/G] NM_001127217,NM_005905 SMAD9,SMAD9 EXON Missense_H337Q,Missense_H300Q exm1063587 13 37439757 [T/C] NM_001127217,NM_005905 SMAD9,SMAD9 EXON Missense_N307S,Missense_N270S exm1063596 13 37439889 [T/C] NM_001127217,NM_005905 SMAD9,SMAD9 EXON Missense_R263Q,Missense_R226Q exm1063600 13 37441448 [T/G] NM_001127217,NM_005905 SMAD9,SMAD9 EXON Missense_T248K,Silent exm1063607 13 37446978 [T/C] NM_001127217,NM_005905 SMAD9,SMAD9 EXON Missense_A163T,Missense_A163T exm1063610 13 37447016 [T/C] NM_001127217,NM_005905 SMAD9,SMAD9 EXON Missense_Y150C,Missense_Y150C exm2221625 13 37447040 [T/A] NM_001127217,NM_005905 SMAD9,SMAD9 EXON Missense_V142E,Missense_V142E exm1063620 13 37453610 [A/G] NM_001127217,NM_005905 SMAD9,SMAD9 EXON Missense_R73C,Missense_R73C exm1063624 13 37453762 [A/G] NM_001127217,NM_005905 SMAD9,SMAD9 EXON Missense_L22P,Missense_L22P exm1063637 13 37524085 [T/C] NM_001142364,NM_013338 ALG5,ALG5 EXON Missense_M293I,Missense_M323I exm1063639 13 37524134 [T/C] NM_001142364,NM_013338 ALG5,ALG5 EXON Missense_R277Q,Missense_R307Q exm1063643 13 37539711 [C/G] NM_001142364,NM_013338 ALG5,ALG5 Silent,Silent exm1063644 13 37539722 [T/C] NM_001142364,NM_013338 ALG5,ALG5 EXON Missense_V225I,Missense_V255I exm1063672 13 37569592 [T/C] NM_001142364,NM_013338 ALG5,ALG5 EXON Missense_V70I,Missense_V70I exm1063674 13 37569622 [A/G] NM_001142364,NM_013338 ALG5,ALG5 EXON Missense_W60R,Missense_W60R exm1063680 13 37573407 [C/G] NM_001142364,NM_013338 ALG5,ALG5 EXON Missense_L11V,Missense_L11V exm1795718 13 37580090 [T/C] NM_181503 EXOSC8 EXON Missense_S91L exm1795727 13 37582275 [A/G] NM_181503 EXOSC8 EXON Missense_R190K exm1063723 13 37583392 [T/A] NM_181503 EXOSC8 EXON Nonsense_K263X exm1063725 13 37583420 [G/C] NM_181503 EXOSC8 EXON Missense_S272T exm2251420 13 37583812 [A/G] NM_001014286,NM_017569 SUPT20H,SUPT20H EXON Synonymous_F779F,Silent exm1063730 13 37583831 [A/G] NM_001014286,NM_017569 SUPT20H,SUPT20H EXON Missense_T773M,Silent exm1063738 13 37584732 [A/C] NM_001014286,NM_017569 SUPT20H,SUPT20H EXON Missense_F720C,Silent exm1063747 13 37586427 [T/A] NM_001014286,NM_017569 SUPT20H,SUPT20H EXON Missense_E667V,Missense_E668V exm1063753 13 37595674 [C/G] NM_001014286,NM_017569 SUPT20H,SUPT20H EXON Missense_P576R,Missense_P577R exm1063761 13 37598225 [T/C] NM_001014286,NM_017569 SUPT20H,SUPT20H EXON Missense_N513S,Missense_N514S exm1063765 13 37598271 [A/G] NM_001014286,NM_017569 SUPT20H,SUPT20H EXON Missense_S498P,Missense_S499P exm1795750 13 37599566 [T/C] NM_001014286,NM_017569 SUPT20H,SUPT20H EXON Missense_N407S,Missense_N408S exm1063782 13 37602324 [T/C] NM_001014286,NM_017569 SUPT20H,SUPT20H EXON Missense_K371R,Missense_K372R exm1063787 13 37602440 [T/A] NM_001014286,NM_017569 SUPT20H,SUPT20H EXON Missense_D332E,Missense_D333E exm1063799 13 37607658 [A/G] NM_001014286,NM_017569 SUPT20H,SUPT20H EXON Missense_S212F,Missense_S213F exm1063803 13 37614726 [T/C] NM_001014286,NM_017569 SUPT20H,SUPT20H EXON Missense_R167H,Missense_R168H exm1063805 13 37614766 [T/C] NM_001014286,NM_017569 SUPT20H,SUPT20H EXON Missense_M154V,Missense_M155V exm1063828 13 37678394 [G/C] NM_145203 CSNK1A1L EXON Missense_V334L exm1063841 13 37678704 [T/A] NM_145203 CSNK1A1L EXON Missense_K230N exm1063842 13 37678727 [A/C] NM_145203 CSNK1A1L EXON Nonsense_G223X exm1063845 13 37678784 [T/C] NM_145203 CSNK1A1L EXON Missense_M204V exm1063849 13 37678865 [T/C] NM_145203 CSNK1A1L EXON Missense_E177K exm1063850 13 37678884 [C/G] NM_145203 CSNK1A1L EXON Missense_R170S exm1063854 13 37678991 [A/G] NM_145203 CSNK1A1L EXON Nonsense_R135X exm1063855 13 37679050 [A/G] NM_145203 CSNK1A1L EXON Missense_M115T exm1063858 13 37679120 [C/G] NM_145203 CSNK1A1L EXON Missense_L92V exm1063859 13 37679143 [T/C] NM_145203 CSNK1A1L EXON Missense_D84G exm1063860 13 37679155 [A/C] NM_145203 CSNK1A1L EXON Missense_G80V exm1063866 13 37679268 [T/G] NM_145203 CSNK1A1L EXON Missense_D42E exm2271923 13 37877935 [T/C] exm-rs1590305 13 38035189 [T/C] exm1063885 13 38138689 [T/C] NM_001135935,NM_006475,NM_001135934,NM_001135936 POSTN,POSTN,POSTN,POSTN EXON Missense_V759M,Missense_V814M,Missense_V757M,Missense_V729M exm1063893 13 38143472 [A/G] NM_001135935,NM_006475,NM_001135934,NM_001135936 POSTN,POSTN,POSTN,POSTN EXON Silent,Missense_F799S,Missense_F742S,Silent exm1795824 13 38144735 [T/C] NM_001135935,NM_006475,NM_001135934,NM_001135936 POSTN,POSTN,POSTN,POSTN EXON Missense_E724K,Missense_E751K,Missense_E694K,Missense_E694K exm1063906 13 38148748 [T/C] NM_001135935,NM_006475,NM_001135934,NM_001135936 POSTN,POSTN,POSTN,POSTN EXON Silent,Missense_V684M,Silent,Silent exm1063907 13 38151891 [A/G] NM_001135935,NM_006475,NM_001135934,NM_001135936 POSTN,POSTN,POSTN,POSTN EXON Synonymous_Y669Y,Synonymous_Y669Y,Synonymous_Y669Y,Synonymous_Y669Y exm2221633 13 38153424 [A/T] NM_001135935,NM_006475,NM_001135934,NM_001135936 POSTN,POSTN,POSTN,POSTN EXON Missense_E578V,Missense_E578V,Missense_E578V,Missense_E578V exm1063928 13 38154776 [A/G] NM_001135935,NM_006475,NM_001135934,NM_001135936 POSTN,POSTN,POSTN,POSTN EXON Missense_A484V,Missense_A484V,Missense_A484V,Missense_A484V exm1063936 13 38156538 [T/C] NM_001135935,NM_006475,NM_001135934,NM_001135936 POSTN,POSTN,POSTN,POSTN EXON Missense_G453R,Missense_G453R,Missense_G453R,Missense_G453R exm1063940 13 38156643 [G/C] NM_001135935,NM_006475,NM_001135934,NM_001135936 POSTN,POSTN,POSTN,POSTN EXON Missense_L418V,Missense_L418V,Missense_L418V,Missense_L418V exm1063944 13 38158195 [A/G] NM_001135935,NM_006475,NM_001135934,NM_001135936 POSTN,POSTN,POSTN,POSTN EXON Missense_T385M,Missense_T385M,Missense_T385M,Missense_T385M exm1063946 13 38158945 [A/G] NM_001135935,NM_006475,NM_001135934,NM_001135936 POSTN,POSTN,POSTN,POSTN EXON Missense_T339I,Missense_T339I,Missense_T339I,Missense_T339I exm1063948 13 38158993 [A/G] NM_001135935,NM_006475,NM_001135934,NM_001135936 POSTN,POSTN,POSTN,POSTN EXON Missense_T323M,Missense_T323M,Missense_T323M,Missense_T323M exm1063951 13 38160279 [T/C] NM_001135935,NM_006475,NM_001135934,NM_001135936 POSTN,POSTN,POSTN,POSTN EXON Missense_E298K,Missense_E298K,Missense_E298K,Missense_E298K exm1063953 13 38160292 [T/G] NM_001135935,NM_006475,NM_001135934,NM_001135936 POSTN,POSTN,POSTN,POSTN EXON Missense_D293E,Missense_D293E,Missense_D293E,Missense_D293E exm1063961 13 38160989 [T/C] NM_001135935,NM_006475,NM_001135934,NM_001135936 POSTN,POSTN,POSTN,POSTN EXON Missense_R228H,Missense_R228H,Missense_R228H,Missense_R228H exm1063965 13 38162009 [A/G] NM_001135935,NM_006475,NM_001135934,NM_001135936 POSTN,POSTN,POSTN,POSTN EXON Missense_P186S,Missense_P186S,Missense_P186S,Missense_P186S exm1063987 13 38172809 [A/T] NM_001135935,NM_006475,NM_001135934,NM_001135936 POSTN,POSTN,POSTN,POSTN EXON Missense_I19L,Missense_I19L,Missense_I19L,Missense_I19L exm1063989 13 38172820 [A/G] NM_001135935,NM_006475,NM_001135934,NM_001135936 POSTN,POSTN,POSTN,POSTN EXON Missense_I15T,Missense_I15T,Missense_I15T,Missense_I15T exm1063999 13 38211098 [T/C] NM_001135957,NM_016179,NM_003306,NM_001135958,NM_001135955,NM_001135956 TRPC4,TRPC4,TRPC4,TRPC4,TRPC4,TRPC4 EXON Missense_Y818C,Missense_Y959C,Missense_Y964C,Missense_Y786C,Missense_Y875C,Missense_Y810C exm1064000 13 38211105 [T/C] NM_001135957,NM_016179,NM_003306,NM_001135958,NM_001135955,NM_001135956 TRPC4,TRPC4,TRPC4,TRPC4,TRPC4,TRPC4 EXON Missense_I816V,Missense_I957V,Missense_I962V,Missense_I784V,Missense_I873V,Missense_I808V exm1064015 13 38211356 [T/C] NM_001135957,NM_016179,NM_003306,NM_001135958,NM_001135955,NM_001135956 TRPC4,TRPC4,TRPC4,TRPC4,TRPC4,TRPC4 EXON Missense_R732H,Missense_R873H,Missense_R878H,Missense_R700H,Missense_R789H,Missense_R724H exm1064021 13 38211702 [T/G] NM_001135957,NM_016179,NM_003306,NM_001135958,NM_001135955,NM_001135956 TRPC4,TRPC4,TRPC4,TRPC4,TRPC4,TRPC4 EXON Silent,Missense_K758Q,Missense_K763Q,Missense_K585Q,Missense_K758Q,Missense_K693Q exm1795902 13 38248380 [A/C] NM_001135957,NM_016179,NM_003306,NM_001135958,NM_001135955,NM_001135956 TRPC4,TRPC4,TRPC4,TRPC4,TRPC4,TRPC4 EXON Missense_I453M,Missense_I453M,Missense_I453M,Missense_I280M,Missense_I453M,Missense_I453M exm1064063 13 38320196 [T/A] NM_001135957,NM_016179,NM_003306,NM_001135958,NM_001135955,NM_001135956 TRPC4,TRPC4,TRPC4,TRPC4,TRPC4,TRPC4 EXON Missense_T259S,Missense_T259S,Missense_T259S,Silent,Missense_T259S,Missense_T259S exm2260199 13 38363047 [A/G] NM_001135957,NM_016179,NM_003306,NM_001135958,NM_001135955,NM_001135956 TRPC4,TRPC4,TRPC4,TRPC4,TRPC4,TRPC4 Silent,Silent,Silent,Silent,Silent,Silent exm2271924 13 38520144 [T/C] exm-rs9548119 13 38531581 [A/T] exm2251424 13 38635214 [T/C] NR_047500 LINC00571 Silent exm2267596 13 38932949 [A/G] NM_016617 UFM1 Silent exm1064143 13 39261590 [T/C] NM_207361 FREM2 EXON Missense_L37F exm1064153 13 39261786 [G/C] NM_207361 FREM2 EXON Missense_G102A exm2274650 13 39261864 [T/C] NM_207361 FREM2 EXON Missense_P128L exm1064158 13 39262013 [A/C] NM_207361 FREM2 EXON Missense_Q178K exm1064165 13 39262076 [T/G] NM_207361 FREM2 EXON Missense_A199S exm1064175 13 39262307 [A/G] NM_207361 FREM2 EXON Missense_N276D exm1795960 13 39262393 [C/G] NM_207361 FREM2 EXON Missense_Q304H exm2221638 13 39262477 [G/C] NM_207361 FREM2 EXON Missense_Q332H exm1064182 13 39262669 [C/G] NM_207361 FREM2 EXON Missense_Q396H exm1064198 13 39262986 [T/C] NM_207361 FREM2 EXON Missense_S502F exm1064201 13 39263061 [T/C] NM_207361 FREM2 EXON Missense_S527L exm2274651 13 39263084 [T/C] NM_207361 FREM2 EXON Missense_R535C exm2221639 13 39263128 [A/C] NM_207361 FREM2 EXON Missense_F549L exm1064204 13 39263158 [C/G] NM_207361 FREM2 EXON Missense_Q559H exm1064207 13 39263181 [T/C] NM_207361 FREM2 EXON Missense_T567M exm1064211 13 39263318 [T/C] NM_207361 FREM2 EXON Missense_R613C exm2221640 13 39263360 [A/G] NM_207361 FREM2 EXON Missense_G627S exm1064228 13 39263609 [T/C] NM_207361 FREM2 EXON Missense_R710C exm1064229 13 39263614 [A/G] NM_207361 FREM2 EXON Missense_M711I exm1064231 13 39263661 [A/G] NM_207361 FREM2 EXON Missense_R727H exm1064241 13 39263789 [A/G] NM_207361 FREM2 EXON Missense_V770M exm1064245 13 39263913 [A/G] NM_207361 FREM2 EXON Missense_G811E exm1795981 13 39263961 [A/C] NM_207361 FREM2 EXON Missense_N827T exm1064251 13 39264081 [T/C] NM_207361 FREM2 EXON Missense_T867I exm1064252 13 39264083 [C/G] NM_207361 FREM2 EXON Missense_L868V exm1064253 13 39264101 [T/C] NM_207361 FREM2 EXON Missense_H874Y exm1064255 13 39264221 [T/G] NM_207361 FREM2 EXON Missense_C914G exm1064266 13 39264381 [A/G] NM_207361 FREM2 EXON Missense_N967S exm1064269 13 39264459 [A/G] NM_207361 FREM2 EXON Missense_E993G exm1064270 13 39264468 [T/A] NM_207361 FREM2 EXON Missense_V996D exm1064273 13 39264597 [A/T] NM_207361 FREM2 EXON Missense_M1039K exm1064277 13 39264690 [T/C] NM_207361 FREM2 EXON Missense_F1070S exm1064287 13 39264969 [A/T] NM_207361 FREM2 EXON Missense_F1163Y exm1064288 13 39265020 [G/C] NM_207361 FREM2 EXON Missense_P1180R exm1064290 13 39265093 [A/G] NM_207361 FREM2 EXON Missense_M1204I exm1064298 13 39265209 [T/A] NM_207361 FREM2 EXON Missense_I1243K exm1064306 13 39265353 [T/C] NM_207361 FREM2 EXON Missense_T1291M exm1064307 13 39265389 [T/C] NM_207361 FREM2 EXON Missense_T1303M exm1064309 13 39265449 [A/G] NM_207361 FREM2 EXON Missense_N1323S exm1064310 13 39265460 [A/T] NM_207361 FREM2 EXON Missense_L1327I exm1064312 13 39265512 [A/G] NM_207361 FREM2 EXON Missense_R1344H exm1064313 13 39265515 [A/G] NM_207361 FREM2 EXON Missense_Y1345C exm2251425 13 39265519 [A/G] NM_207361 FREM2 EXON Synonymous_G1346G exm1064316 13 39265563 [T/C] NM_207361 FREM2 EXON Missense_F1361S exm1795996 13 39265736 [A/G] NM_207361 FREM2 EXON Missense_I1419V exm1064324 13 39265800 [A/C] NM_207361 FREM2 EXON Missense_T1440K exm1064336 13 39266039 [T/C] NM_207361 FREM2 EXON Missense_R1520W exm1064337 13 39266048 [T/C] NM_207361 FREM2 EXON Missense_R1523C exm1064350 13 39266207 [G/C] NM_207361 FREM2 EXON Missense_P1576A exm1064351 13 39266211 [T/C] NM_207361 FREM2 EXON Missense_I1577T exm1064358 13 39266382 [T/C] NM_207361 FREM2 EXON Missense_T1634M exm1064359 13 39266384 [A/G] NM_207361 FREM2 EXON Missense_V1635M exm1796003 13 39266397 [A/G] NM_207361 FREM2 EXON Missense_R1639K exm1064361 13 39266441 [A/C] NM_207361 FREM2 EXON Missense_S1654R exm1064364 13 39266472 [T/C] NM_207361 FREM2 EXON Missense_A1664V exm1064366 13 39266484 [A/G] NM_207361 FREM2 EXON Missense_R1668H exm1064368 13 39266540 [T/G] NM_207361 FREM2 EXON Nonsense_E1687X exm1796011 13 39338456 [T/C] NM_207361 FREM2 EXON Missense_T1760M exm1796012 13 39338531 [A/C] NM_207361 FREM2 EXON Missense_K1785T exm1064389 13 39343721 [A/G] NM_207361 FREM2 EXON Missense_G1806D exm1064390 13 39343741 [A/G] NM_207361 FREM2 EXON Missense_E1813K exm1064393 13 39343822 [T/C] NM_207361 FREM2 EXON Missense_R1840W exm1796015 13 39343936 [T/C] NM_207361 FREM2 EXON Missense_P1878S exm1064406 13 39358715 [T/C] NM_207361 FREM2 EXON Missense_P1930L exm1064409 13 39358796 [A/G] NM_207361 FREM2 EXON Missense_R1957Q exm2267512 13 39359708 [A/G] NM_207361 FREM2 Silent exm2251427 13 39420726 [T/C] NM_207361 FREM2 EXON Synonymous_F2012F exm1796028 13 39420817 [A/G] NM_207361 FREM2 EXON Missense_V2043I exm1064427 13 39422624 [T/C] NM_207361 FREM2 EXON Missense_R2066C exm1064429 13 39422629 [T/A] NM_207361 FREM2 EXON Missense_N2067K exm1064462 13 39425167 [T/C] NM_207361 FREM2 EXON Missense_P2222S exm1064481 13 39425940 [T/C] NM_207361 FREM2 EXON Missense_I2287T exm1064487 13 39430314 [T/C] NM_207361 FREM2 EXON Missense_T2326I exm1064490 13 39430326 [T/C] NM_207361 FREM2 EXON Missense_V2330A exm1064510 13 39433574 [A/G] NM_207361 FREM2 EXON Missense_D2456N exm1064514 13 39433637 [T/C] NM_207361 FREM2 EXON Missense_R2477W exm1064523 13 39435583 [A/G] NM_207361 FREM2 EXON Missense_R2512H exm1064552 13 39447020 [A/G] NM_207361 FREM2 EXON Missense_A2709T exm1064560 13 39448670 [T/C] NM_207361 FREM2 EXON Missense_V2743A exm1064587 13 39452993 [T/C] NM_207361 FREM2 EXON Missense_A2962V exm1064588 13 39453010 [A/G] NM_207361 FREM2 EXON Missense_V2968I exm1064589 13 39453014 [T/C] NM_207361 FREM2 EXON Missense_L2969P exm1064592 13 39453026 [A/G] NM_207361 FREM2 EXON Missense_K2973R exm1064599 13 39454424 [A/G] NM_207361 FREM2 EXON Missense_A3004T exm1064601 13 39454452 [T/C] NM_207361 FREM2 EXON Missense_T3013M exm1064602 13 39454485 [A/G] NM_207361 FREM2 EXON Missense_N3024S exm1064604 13 39454527 [T/C] NM_207361 FREM2 EXON Missense_V3038A exm1064615 13 39454680 [A/G] NM_207361 FREM2 EXON Missense_H3089R exm2251428 13 39454711 [T/C] NM_207361 FREM2 EXON Synonymous_P3099P exm1064617 13 39454711 [T/C] NM_207361 FREM2 EXON Synonymous_P3099P exm1064618 13 39454751 [A/G] NM_207361 FREM2 EXON Missense_T3113A exm1064624 13 39454832 [A/G] NM_207361 FREM2 EXON Missense_S3140G exm-rs9315632 13 39516627 [T/G] exm1064628 13 39541030 [T/C] NM_145286,NM_001144033 STOML3,STOML3 EXON Missense_M270V,Missense_M261V exm1064632 13 39541074 [A/G] NM_145286,NM_001144033 STOML3,STOML3 EXON Missense_T255M,Missense_T246M exm1064644 13 39542625 [T/C] NM_145286,NM_001144033 STOML3,STOML3 EXON Missense_R188Q,Missense_R179Q exm1064645 13 39542628 [A/G] NM_145286,NM_001144033 STOML3,STOML3 EXON Missense_A187V,Missense_A178V exm1064648 13 39544336 [T/C] NM_145286,NM_001144033 STOML3,STOML3 EXON Missense_A168T,Missense_A159T exm1064650 13 39544348 [A/G] NM_145286,NM_001144033 STOML3,STOML3 EXON Nonsense_R164X,Nonsense_R155X exm1064664 13 39546681 [A/G] NM_145286,NM_001144033 STOML3,STOML3 EXON Nonsense_R94X,Nonsense_R85X exm1064666 13 39546720 [T/C] NM_145286,NM_001144033 STOML3,STOML3 EXON Missense_V81I,Missense_V72I exm1796127 13 39550706 [A/C] NM_145286,NM_001144033 STOML3,STOML3 EXON Missense_R67L,Missense_R58L exm1064671 13 39550707 [A/G] NM_145286,NM_001144033 STOML3,STOML3 EXON Missense_R67C,Missense_R58C exm1064672 13 39550715 [T/C] NM_145286,NM_001144033 STOML3,STOML3 EXON Missense_R64H,Missense_R55H exm1064676 13 39550846 [T/C] NM_145286,NM_001144033 STOML3,STOML3 EXON Missense_I47M,Missense_I38M exm1064690 13 39585591 [A/C] NM_025138 PROSER1 EXON Missense_A916S exm1064696 13 39586270 [A/C] NM_025138 PROSER1 EXON Missense_L888V exm1064705 13 39586850 [T/A] NM_025138 PROSER1 EXON Missense_S847T exm1064714 13 39586979 [T/G] NM_025138 PROSER1 EXON Missense_P804T exm1064715 13 39586984 [A/G] NM_025138 PROSER1 EXON Missense_A802V exm1064731 13 39587206 [A/G] NM_025138 PROSER1 EXON Missense_T728I exm1064740 13 39587409 [A/C] NM_025138 PROSER1 EXON Missense_L660F exm1064747 13 39587642 [A/G] NM_025138 PROSER1 EXON Missense_R583C exm1064749 13 39587677 [A/G] NM_025138 PROSER1 EXON Missense_V571A exm1064753 13 39587720 [T/C] NM_025138 PROSER1 EXON Missense_V557I exm1064756 13 39587752 [C/G] NM_025138 PROSER1 EXON Missense_A546G exm1064761 13 39587813 [T/C] NM_025138 PROSER1 EXON Missense_T526A exm1064767 13 39587920 [G/C] NM_025138 PROSER1 EXON Missense_S490C exm1064778 13 39588169 [A/G] NM_025138 PROSER1 EXON Missense_P407L exm1064781 13 39588233 [A/G] NM_025138 PROSER1 EXON Missense_P386S exm1064793 13 39588565 [A/G] NM_025138 PROSER1 EXON Missense_P275L exm1064809 13 39598627 [T/G] NM_025138 PROSER1 EXON Missense_L183I exm1064834 13 39612819 [T/C] NM_001012754,NM_001017370,NR_073109 NHLRC3,NHLRC3,NHLRC3 EXON Missense_L15F,Missense_L15F,Silent exm1064839 13 39613322 [T/G] NM_001012754,NM_001017370,NR_073109 NHLRC3,NHLRC3,NHLRC3 EXON Missense_L45R,Missense_L45R,Silent exm1064841 13 39613335 [T/G] NM_001012754,NM_001017370,NR_073109 NHLRC3,NHLRC3,NHLRC3 EXON Missense_D49E,Missense_D49E,Silent exm1064845 13 39613418 [T/C] NM_001012754,NM_001017370,NR_073109 NHLRC3,NHLRC3,NHLRC3 EXON Missense_I77T,Missense_I77T,Silent exm1064849 13 39616277 [T/G] NM_001012754,NM_001017370,NR_073109 NHLRC3,NHLRC3,NHLRC3 EXON Missense_F141V,Silent,Silent exm1064864 13 39618302 [T/G] NM_001012754,NM_001017370,NR_073109 NHLRC3,NHLRC3,NHLRC3 EXON Missense_L221R,Missense_L154R,Silent exm1064875 13 39621264 [A/G] NM_001012754,NM_001017370,NR_073109 NHLRC3,NHLRC3,NHLRC3 EXON Missense_T256A,Missense_T189A,Silent exm1064877 13 39621838 [T/G] NM_001012754,NM_001017370,NR_073109 NHLRC3,NHLRC3,NHLRC3 EXON Missense_I273M,Missense_I206M,Silent exm1064880 13 39621884 [T/C] NM_001012754,NM_001017370,NR_073109 NHLRC3,NHLRC3,NHLRC3 EXON Missense_P289S,Missense_P222S,Silent exm1064882 13 39621897 [T/C] NM_001012754,NM_001017370,NR_073109 NHLRC3,NHLRC3,NHLRC3 EXON Missense_I293T,Missense_I226T,Silent exm1064883 13 39621902 [G/C] NM_001012754,NM_001017370,NR_073109 NHLRC3,NHLRC3,NHLRC3 EXON Missense_E295Q,Missense_E228Q,Silent exm1064887 13 39621933 [T/C] NM_001012754,NM_001017370,NR_073109 NHLRC3,NHLRC3,NHLRC3 EXON Missense_A305V,Missense_A238V,Silent exm1064888 13 39621965 [T/G] NM_001012754,NM_001017370,NR_073109 NHLRC3,NHLRC3,NHLRC3 EXON Missense_D316Y,Missense_D249Y,Silent exm1064890 13 39621997 [A/C] NM_001012754,NM_001017370,NR_073109 NHLRC3,NHLRC3,NHLRC3 EXON Missense_E326D,Missense_E259D,Silent exm2272005 13 39679678 [T/C] exm2271926 13 39979675 [T/C] NM_005780 LHFP Silent exm2267513 13 40146225 [A/G] NM_005780 LHFP Silent exm1064908 13 40175047 [T/C] NM_005780 LHFP EXON Missense_A103T exm1064912 13 40175239 [G/C] NM_005780 LHFP EXON Missense_G39R exm1064919 13 40229891 [A/G] NM_001145079,NR_026745,NM_020751 COG6,COG6,COG6 EXON Missense_A10T,Silent,Missense_A10T exm1064920 13 40229928 [A/G] NM_001145079,NR_026745,NM_020751 COG6,COG6,COG6 EXON Missense_N22S,Silent,Missense_N22S exm1064923 13 40229957 [T/A] NM_001145079,NR_026745,NM_020751 COG6,COG6,COG6 EXON Missense_C32S,Silent,Missense_C32S exm1064926 13 40233502 [A/G] NM_001145079,NR_026745,NM_020751 COG6,COG6,COG6 EXON Missense_E52G,Silent,Missense_E52G exm1064937 13 40235007 [A/G] NM_001145079,NR_026745,NM_020751 COG6,COG6,COG6 EXON Missense_S120G,Silent,Missense_S120G exm1064950 13 40253741 [A/C] NM_001145079,NR_026745,NM_020751 COG6,COG6,COG6 EXON Missense_N203H,Silent,Missense_N203H exm1064966 13 40261702 [T/C] NM_001145079,NR_026745,NM_020751 COG6,COG6,COG6 EXON Missense_A284V,Silent,Missense_A284V exm1064968 13 40261749 [T/C] NM_001145079,NR_026745,NM_020751 COG6,COG6,COG6 EXON Missense_H300Y,Silent,Missense_H300Y exm2221648 13 40263942 [T/G] NM_001145079,NR_026745,NM_020751 COG6,COG6,COG6 EXON Missense_G352V,Silent,Missense_G352V exm1064983 13 40268841 [A/G] NM_001145079,NR_026745,NM_020751 COG6,COG6,COG6 EXON Missense_K382R,Silent,Missense_K382R exm1064984 13 40273651 [A/G] NM_001145079,NR_026745,NM_020751 COG6,COG6,COG6 EXON Missense_N394D,Silent,Missense_N394D exm1064993 13 40293428 [T/C] NM_001145079,NR_026745,NM_020751 COG6,COG6,COG6 EXON Missense_M447T,Silent,Missense_M447T exm1796324 13 40293466 [T/G] NM_001145079,NR_026745,NM_020751 COG6,COG6,COG6 EXON Missense_V460F,Silent,Missense_V460F exm1796326 13 40293839 [A/G] NM_001145079,NR_026745,NM_020751 COG6,COG6,COG6 EXON Missense_V487I,Silent,Missense_V487I exm1065008 13 40297530 [T/G] NM_001145079,NR_026745,NM_020751 COG6,COG6,COG6 EXON Missense_G549C,Silent,Missense_G549C exm1065018 13 40301618 [T/C] NM_001145079,NR_026745,NM_020751 COG6,COG6,COG6 EXON Missense_R587C,Silent,Missense_R587C exm1065024 13 40325139 [A/G] NM_001145079,NR_026745,NM_020751 COG6,COG6,COG6 EXON Silent,Silent,Missense_Y628C exm1065026 13 40325147 [A/G] NM_001145079,NR_026745,NM_020751 COG6,COG6,COG6 EXON Silent,Silent,Missense_V631M exm1065027 13 40325160 [T/C] NM_001145079,NR_026745,NM_020751 COG6,COG6,COG6 EXON Silent,Silent,Missense_I635T exm1065031 13 40325219 [A/C] NM_001145079,NR_026745,NM_020751 COG6,COG6,COG6 EXON Silent,Silent,Missense_L655I exm-rs7993214 13 40350912 [T/C] NM_001145079 COG6 Silent exm2272006 13 40642658 [T/C] exm-rs7992347 13 40705706 [T/C] exm2271927 13 40740239 [T/C] exm-rs10492681 13 40807483 [C/G] exm-rs941823 13 41013977 [T/C] NR_024506,NR_024507 LINC00598,LINC00598 Silent,Silent exm-rs2755237 13 41109429 [A/C] exm-rs2721051 13 41110884 [T/C] exm1065058 13 41133872 [T/C] NM_002015 FOXO1 EXON Missense_G586S exm1065060 13 41133892 [A/G] NM_002015 FOXO1 EXON Missense_S579F exm1065063 13 41133979 [A/G] NM_002015 FOXO1 EXON Missense_S550L exm1065064 13 41134003 [A/G] NM_002015 FOXO1 EXON Missense_T542M exm1065066 13 41134018 [T/C] NM_002015 FOXO1 EXON Missense_R537H exm1065067 13 41134019 [A/G] NM_002015 FOXO1 EXON Missense_R537C exm1065073 13 41134096 [A/G] NM_002015 FOXO1 EXON Missense_A511V exm1065095 13 41134502 [C/G] NM_002015 FOXO1 EXON Missense_D376H exm1065133 13 41303643 [T/C] NM_005830 MRPS31 EXON Missense_M351I exm1065135 13 41303653 [A/C] NM_005830 MRPS31 EXON Missense_R348L exm1065144 13 41323397 [T/C] NM_005830 MRPS31 EXON Missense_D279N exm1065150 13 41331027 [A/G] NM_005830 MRPS31 EXON Missense_T241M exm1065162 13 41340912 [T/C] NM_005830 MRPS31 EXON Missense_R137Q exm1065167 13 41340992 [T/A] NM_005830 MRPS31 EXON Missense_L110F exm1065174 13 41341137 [A/G] NM_005830 MRPS31 EXON Missense_T62I exm1796491 13 41373284 [G/C] NM_014252,NR_038259,NR_038258 SLC25A15,TPTE2P5,TPTE2P5 EXON Missense_D49E,Silent,Silent exm1065190 13 41373319 [A/G] NM_014252,NR_038259,NR_038258 SLC25A15,TPTE2P5,TPTE2P5 EXON Missense_R61H,Silent,Silent exm1065193 13 41373385 [T/C] NM_014252,NR_038259,NR_038258 SLC25A15,TPTE2P5,TPTE2P5 EXON Missense_M83T,Silent,Silent exm1065195 13 41373414 [T/C] NM_014252,NR_038259,NR_038258 SLC25A15,TPTE2P5,TPTE2P5 EXON Missense_R93W,Silent,Silent exm2251435 13 41379272 [T/C] NM_014252,NR_038259,NR_038258 SLC25A15,TPTE2P5,TPTE2P5 EXON Synonymous_A111A,Silent,Silent exm2221652 13 41381518 [A/G] NM_014252,NR_038259,NR_038258 SLC25A15,TPTE2P5,TPTE2P5 EXON Missense_V181I,Silent,Silent exm1065212 13 41381542 [A/G] NM_014252,NR_038259,NR_038258 SLC25A15,TPTE2P5,TPTE2P5 EXON Missense_G189S,Silent,Silent exm1065215 13 41382583 [T/C] NM_014252,NR_038259,NR_038258 SLC25A15,TPTE2P5,TPTE2P5 EXON Missense_P211L,Silent,Silent exm1065219 13 41382634 [A/T] NM_014252,NR_038259,NR_038258 SLC25A15,TPTE2P5,TPTE2P5 EXON Missense_Y228F,Silent,Silent exm2251436 13 41507579 [T/C] NM_001145353,NM_172373 ELF1,ELF1 EXON Synonymous_L590L,Synonymous_L614L exm1065248 13 41507769 [A/G] NM_001145353,NM_172373 ELF1,ELF1 EXON Missense_T527I,Missense_T551I exm1796517 13 41507793 [T/C] NM_001145353,NM_172373 ELF1,ELF1 EXON Missense_Q519R,Missense_Q543R exm1065261 13 41508049 [A/G] NM_001145353,NM_172373 ELF1,ELF1 EXON Missense_S434P,Missense_S458P exm1065267 13 41515070 [T/C] NM_001145353,NM_172373 ELF1,ELF1 EXON Missense_V391I,Missense_V415I exm1065269 13 41515105 [A/G] NM_001145353,NM_172373 ELF1,ELF1 EXON Missense_T379I,Missense_T403I exm1065270 13 41515118 [T/C] NM_001145353,NM_172373 ELF1,ELF1 EXON Missense_E375K,Missense_E399K exm1065272 13 41515151 [T/C] NM_001145353,NM_172373 ELF1,ELF1 EXON Missense_V364I,Missense_V388I exm1065273 13 41515162 [T/C] NM_001145353,NM_172373 ELF1,ELF1 EXON Missense_R360Q,Missense_R384Q exm1065277 13 41515265 [A/C] NM_001145353,NM_172373 ELF1,ELF1 EXON Missense_S326A,Missense_S350A exm1065279 13 41515324 [T/C] NM_001145353,NM_172373 ELF1,ELF1 EXON Missense_R306K,Missense_R330K exm1065283 13 41515345 [G/C] NM_001145353,NM_172373 ELF1,ELF1 EXON Missense_R299T,Missense_R323T exm1796524 13 41515418 [T/C] NM_001145353,NM_172373 ELF1,ELF1 EXON Missense_I275V,Missense_I299V exm2251437 13 41517985 [A/G] NM_001145353,NM_172373 ELF1,ELF1 EXON Synonymous_D178D,Synonymous_D202D exm1065298 13 41518032 [A/G] NM_001145353,NM_172373 ELF1,ELF1 EXON Missense_S163P,Missense_S187P exm1065303 13 41523980 [A/G] NM_001145353,NM_172373 ELF1,ELF1 EXON Missense_P140L,Missense_P164L exm1065316 13 41533043 [A/G] NM_001145353,NM_172373 ELF1,ELF1 EXON Missense_I61T,Missense_I61T exm1065317 13 41533052 [T/C] NM_001145353,NM_172373 ELF1,ELF1 EXON Missense_N58S,Missense_N58S exm1065318 13 41533077 [T/C] NM_001145353,NM_172373 ELF1,ELF1 EXON Missense_G50S,Missense_G50S exm1065324 13 41556156 [T/A] NM_001145353,NM_172373 ELF1,ELF1 EXON Missense_F12Y,Missense_F12Y exm1065326 13 41556183 [C/G] NM_001145353,NM_172373 ELF1,ELF1 EXON Missense_A3G,Missense_A3G exm-rs7329174 13 41558110 [A/G] NM_172373 ELF1 Silent exm1065336 13 41639171 [A/G] NM_007187 WBP4 EXON Missense_R32K exm2221655 13 41639370 [T/C] NM_007187 WBP4 EXON Missense_A70V exm1065347 13 41642708 [G/C] NM_007187 WBP4 EXON Missense_P92A exm1065359 13 41650258 [T/G] NM_007187 WBP4 EXON Missense_L214R exm1065364 13 41650342 [T/C] NM_007187 WBP4 EXON Missense_T242I exm1065368 13 41654902 [G/C] NM_007187 WBP4 EXON Missense_P293A exm1065372 13 41656881 [A/G] NM_007187 WBP4 EXON Missense_Y321C exm2267597 13 41695100 [A/G] exm1065417 13 41706233 [T/C] NM_152903 KBTBD6 EXON Missense_A139T exm1065424 13 41706613 [T/C] NM_152903 KBTBD6 EXON Missense_R12H exm2251439 13 41706639 [A/G] NM_152903 KBTBD6 EXON Synonymous_S3S exm1065442 13 41767049 [T/C] NM_032138 KBTBD7 EXON Missense_V449I exm1065488 13 41791267 [A/T] NM_004294 MTRF1 EXON Missense_L441H exm1065489 13 41791274 [T/C] NM_004294 MTRF1 EXON Missense_E439K exm1065490 13 41791310 [A/C] NM_004294 MTRF1 EXON Missense_S427A exm1065492 13 41797397 [T/C] NM_004294 MTRF1 EXON Missense_I407V exm2221660 13 41814520 [A/C] NM_004294 MTRF1 EXON Missense_K249N exm1065517 13 41814531 [T/C] NM_004294 MTRF1 EXON Missense_G246S exm2274653 13 41814545 [T/C] NM_004294 MTRF1 EXON Missense_R241Q exm1065521 13 41826782 [A/G] NM_004294 MTRF1 EXON Synonymous_Y232Y exm1065533 13 41834644 [G/C] NM_004294 MTRF1 EXON Missense_E134Q exm1065535 13 41834703 [A/G] NM_004294 MTRF1 EXON Missense_A114V exm1065549 13 41835039 [T/C] NM_004294 MTRF1 EXON Missense_N2S exm2271929 13 41837155 [T/C] NM_004294 MTRF1 Silent exm1065560 13 41891040 [T/C] NM_018527,NM_001110798,NM_024561 NAA16,NAA16,NAA16 EXON Missense_S38L,Missense_S38L,Missense_S38L exm1065562 13 41892955 [A/G] NM_018527,NM_001110798,NM_024561 NAA16,NAA16,NAA16 EXON Missense_M51I,Missense_M51I,Missense_M51I exm1065563 13 41893006 [T/G] NM_018527,NM_001110798,NM_024561 NAA16,NAA16,NAA16 EXON Missense_F68L,Missense_F68L,Missense_F68L exm1065568 13 41894893 [A/G] NM_018527,NM_001110798,NM_024561 NAA16,NAA16,NAA16 EXON Missense_D112G,Missense_D112G,Missense_D112G exm1065578 13 41899915 [G/C] NM_018527,NM_001110798,NM_024561 NAA16,NAA16,NAA16 EXON Missense_Q207E,Missense_Q207E,Missense_Q207E exm2221662 13 41899926 [C/G] NM_018527,NM_001110798,NM_024561 NAA16,NAA16,NAA16 EXON Missense_L210F,Missense_L210F,Missense_L210F exm1065596 13 41910789 [A/G] NM_018527,NM_001110798,NM_024561 NAA16,NAA16,NAA16 EXON Silent,Missense_E304G,Missense_E304G exm1065600 13 41929296 [A/G] NM_018527,NM_001110798,NM_024561 NAA16,NAA16,NAA16 EXON Synonymous_G308G,Missense_E344G,Missense_E344G exm1065608 13 41933045 [G/C] NM_024561 NAA16 EXON Missense_L453V exm1065617 13 41941675 [T/C] NM_024561 NAA16 EXON Missense_I547T exm1065637 13 41946898 [A/G] NM_024561 NAA16 EXON Missense_K696R exm1065642 13 41947811 [A/G] NM_024561 NAA16 EXON Missense_V732I exm1796707 13 41947829 [A/C] NM_024561 NAA16 EXON Missense_Q738K exm1065653 13 41948934 [C/G] NM_024561 NAA16 EXON Missense_A786P exm1065673 13 42042942 [T/C] NM_014059 RGCC EXON Missense_A125V exm2260204 13 42123203 [A/C] exm1065679 13 42142362 [A/G] NM_015058 VWA8 EXON Missense_F1897L exm1065685 13 42144712 [A/C] NM_015058 VWA8 EXON Missense_L1834R exm1065696 13 42149949 [T/G] NM_015058 VWA8 EXON Missense_D1766A exm2271930 13 42184928 [T/C] NM_015058 VWA8 Silent exm1065724 13 42185751 [A/C] NM_015058 VWA8 EXON Missense_R1613I exm2275301 13 42185868 [G/C] NM_015058 VWA8 EXON Missense_G1574A exm1065726 13 42189142 [T/C] NM_015058 VWA8 EXON Missense_V1564M exm1065740 13 42259195 [T/G] NM_015058 VWA8 EXON Missense_I1439L exm1065746 13 42259300 [T/C] NM_015058 VWA8 EXON Missense_G1404R exm1065748 13 42259330 [A/G] NM_015058 VWA8 EXON Nonsense_R1394X exm1065758 13 42264331 [A/G] NM_015058 VWA8 EXON Missense_P1316L exm1065759 13 42264380 [T/C] NM_015058 VWA8 EXON Missense_E1300K exm1065768 13 42266056 [T/C] NM_015058 VWA8 EXON Missense_K1232E exm1065770 13 42266997 [T/C] NM_015058 VWA8 Silent exm1065772 13 42267071 [A/G] NM_015058 VWA8 EXON Missense_A1201V exm1065774 13 42267075 [A/G] NM_015058 VWA8 EXON Missense_R1200W exm1065781 13 42273253 [A/G] NM_015058 VWA8 EXON Missense_P1173L exm1065787 13 42273385 [T/C] NM_015058 VWA8 EXON Missense_Y1129C exm1065800 13 42293761 [T/C] NM_015058,NM_001009814 VWA8,VWA8 EXON Missense_G1028R,Missense_G1028R exm1065815 13 42295687 [A/G] NM_015058,NM_001009814 VWA8,VWA8 EXON Missense_V928A,Missense_V928A exm1065818 13 42301339 [T/C] NM_015058,NM_001009814 VWA8,VWA8 EXON Missense_G917S,Missense_G917S exm1065820 13 42301395 [T/C] NM_015058,NM_001009814 VWA8,VWA8 EXON Missense_R898K,Missense_R898K exm1065822 13 42303731 [A/G] NM_015058,NM_001009814 VWA8,VWA8 EXON Missense_T862I,Missense_T862I exm1796786 13 42303746 [A/G] NM_015058,NM_001009814 VWA8,VWA8 EXON Missense_T857M,Missense_T857M exm1065834 13 42335277 [T/C] NM_015058,NM_001009814 VWA8,VWA8 EXON Missense_I805V,Missense_I805V exm1065841 13 42352171 [T/C] NM_015058,NM_001009814 VWA8,VWA8 EXON Missense_M767V,Missense_M767V exm1065852 13 42385421 [T/C] NM_015058,NM_001009814 VWA8,VWA8 EXON Missense_R668Q,Missense_R668Q exm1065855 13 42385446 [T/C] NM_015058,NM_001009814 VWA8,VWA8 EXON Missense_R660G,Missense_R660G exm1065858 13 42390907 [A/G] NM_015058,NM_001009814 VWA8,VWA8 EXON Missense_P625L,Missense_P625L exm1065865 13 42393441 [A/C] NM_015058,NM_001009814 VWA8,VWA8 EXON Missense_W594C,Missense_W594C exm1065866 13 42393472 [T/G] NM_015058,NM_001009814 VWA8,VWA8 EXON Missense_P584H,Missense_P584H exm1065869 13 42404665 [G/C] NM_015058,NM_001009814 VWA8,VWA8 EXON Missense_R567T,Missense_R567T exm1065870 13 42404671 [T/C] NM_015058,NM_001009814 VWA8,VWA8 EXON Missense_Q565R,Missense_Q565R exm1065872 13 42404710 [T/C] NM_015058,NM_001009814 VWA8,VWA8 EXON Missense_R552H,Missense_R552H exm1065874 13 42404754 [G/C] NM_015058,NM_001009814 VWA8,VWA8 EXON Missense_S537R,Missense_S537R exm1065890 13 42439913 [T/C] NM_015058,NM_001009814 VWA8,VWA8 EXON Missense_D462N,Missense_D462N exm1065892 13 42439925 [A/T] NM_015058,NM_001009814 VWA8,VWA8 EXON Nonsense_K458X,Nonsense_K458X exm1065895 13 42440054 [A/C] NM_015058,NM_001009814 VWA8,VWA8 EXON Missense_C444F,Missense_C444F exm1065896 13 42440058 [T/G] NM_015058,NM_001009814 VWA8,VWA8 EXON Missense_I443L,Missense_I443L exm1065900 13 42440127 [A/G] NM_015058,NM_001009814 VWA8,VWA8 EXON Missense_R420C,Missense_R420C exm1065905 13 42440163 [T/C] NM_015058,NM_001009814 VWA8,VWA8 EXON Missense_G408R,Missense_G408R exm1065909 13 42442510 [T/C] NM_015058,NM_001009814 VWA8,VWA8 EXON Missense_R395Q,Missense_R395Q exm1065910 13 42442519 [A/G] NM_015058,NM_001009814 VWA8,VWA8 EXON Missense_V392A,Missense_V392A exm1065912 13 42442545 [T/C] NM_015058,NM_001009814 VWA8,VWA8 EXON Missense_M383I,Missense_M383I exm1065913 13 42442546 [A/G] NM_015058,NM_001009814 VWA8,VWA8 EXON Missense_M383T,Missense_M383T exm1065916 13 42442588 [G/C] NM_015058,NM_001009814 VWA8,VWA8 EXON Missense_S369T,Missense_S369T exm1065918 13 42442613 [A/G] NM_015058,NM_001009814 VWA8,VWA8 EXON Missense_R361C,Missense_R361C exm1065935 13 42461439 [T/C] NM_015058,NM_001009814 VWA8,VWA8 EXON Missense_R237Q,Missense_R237Q exm1796835 13 42465576 [A/G] NM_015058,NM_001009814 VWA8,VWA8 EXON Missense_R211C,Missense_R211C exm1065941 13 42465713 [T/C] NM_015058,NM_001009814 VWA8,VWA8 EXON Missense_R165H,Missense_R165H exm1065945 13 42481751 [A/G] NM_015058,NM_001009814 VWA8,VWA8 EXON Missense_R152C,Missense_R152C exm1065952 13 42481820 [A/G] NM_015058,NM_001009814 VWA8,VWA8 EXON Missense_R129W,Missense_R129W exm1065960 13 42524122 [G/C] NM_015058,NM_001009814 VWA8,VWA8 EXON Missense_S64C,Missense_S64C exm1065962 13 42524143 [A/G] NM_015058,NM_001009814 VWA8,VWA8 EXON Missense_T57I,Missense_T57I exm-rs6561030 13 42631719 [A/C] NM_001204504,NM_178009,NM_152910 DGKH,DGKH,DGKH Silent,Silent,Silent exm-rs1012053 13 42653437 [A/C] NM_001204504,NM_178009,NM_152910 DGKH,DGKH,DGKH Silent,Silent,Silent exm2221676 13 42701612 [A/G] NM_001204504,NM_178009,NM_152910 DGKH,DGKH,DGKH EXON Missense_E69G,Missense_E69G,Missense_E69G exm1066003 13 42733465 [T/C] NM_001204504,NM_178009,NM_152910,NM_001204505,NM_001204506 DGKH,DGKH,DGKH,DGKH,DGKH EXON Missense_T229I,Missense_T229I,Missense_T229I,Missense_T93I,Missense_T93I exm1066007 13 42734171 [T/G] NM_001204504,NM_178009,NM_152910,NM_001204505,NM_001204506 DGKH,DGKH,DGKH,DGKH,DGKH EXON Nonsense_E252X,Nonsense_E252X,Nonsense_E252X,Nonsense_E116X,Nonsense_E116X exm1066018 13 42740666 [A/C] NM_001204504,NM_178009,NM_152910,NM_001204505,NM_001204506 DGKH,DGKH,DGKH,DGKH,DGKH EXON Missense_T325K,Missense_T325K,Missense_T325K,Missense_T189K,Missense_T189K exm1066019 13 42740672 [T/C] NM_001204504,NM_178009,NM_152910,NM_001204505,NM_001204506 DGKH,DGKH,DGKH,DGKH,DGKH EXON Missense_S327L,Missense_S327L,Missense_S327L,Missense_S191L,Missense_S191L exm1066020 13 42740678 [A/G] NM_001204504,NM_178009,NM_152910,NM_001204505,NM_001204506 DGKH,DGKH,DGKH,DGKH,DGKH EXON Missense_C329Y,Missense_C329Y,Missense_C329Y,Missense_C193Y,Missense_C193Y exm1066040 13 42752320 [A/G] NM_001204504,NM_178009,NM_152910,NM_001204505,NM_001204506 DGKH,DGKH,DGKH,DGKH,DGKH EXON Missense_N501S,Missense_N501S,Missense_N501S,Missense_N365S,Missense_N365S exm1066044 13 42761201 [A/G] NM_001204504,NM_178009,NM_152910,NM_001204505,NM_001204506 DGKH,DGKH,DGKH,DGKH,DGKH EXON Missense_V519I,Missense_V519I,Missense_V519I,Missense_V383I,Missense_V383I exm1066050 13 42761244 [A/C] NM_001204504,NM_178009,NM_152910,NM_001204505,NM_001204506 DGKH,DGKH,DGKH,DGKH,DGKH EXON Missense_T533N,Missense_T533N,Missense_T533N,Missense_T397N,Missense_T397N exm1066060 13 42763387 [A/G] NM_001204504,NM_178009,NM_152910,NM_001204505,NM_001204506 DGKH,DGKH,DGKH,DGKH,DGKH EXON Missense_M618I,Missense_M618I,Missense_M618I,Missense_M482I,Missense_M482I exm1066065 13 42764640 [A/G] NM_001204504,NM_178009,NM_152910,NM_001204505,NM_001204506 DGKH,DGKH,DGKH,DGKH,DGKH EXON Missense_G672S,Missense_G672S,Missense_G672S,Missense_G536S,Missense_G536S exm1066075 13 42772701 [T/C] NM_001204504,NM_178009,NM_152910,NM_001204505,NM_001204506 DGKH,DGKH,DGKH,DGKH,DGKH EXON Missense_T752M,Missense_T752M,Missense_T752M,Missense_T616M,Missense_T616M exm1066078 13 42772730 [A/G] NM_001204504,NM_178009,NM_152910,NM_001204505,NM_001204506 DGKH,DGKH,DGKH,DGKH,DGKH EXON Missense_V762I,Missense_V762I,Missense_V762I,Missense_V626I,Missense_V626I exm1066087 13 42783471 [A/G] NM_001204504,NM_178009,NM_152910,NM_001204505,NM_001204506 DGKH,DGKH,DGKH,DGKH,DGKH EXON Missense_R907H,Missense_R907H,Missense_R907H,Missense_R771H,Missense_R771H exm1796908 13 42793364 [A/G] NM_001204504,NM_178009,NM_152910,NM_001204505,NM_001204506 DGKH,DGKH,DGKH,DGKH,DGKH Silent,Silent,Silent,Silent,Silent exm2221678 13 42793438 [A/G] NM_001204504,NM_178009,NM_152910,NM_001204505,NM_001204506 DGKH,DGKH,DGKH,DGKH,DGKH EXON Missense_T1096A,Missense_T1096A,Missense_T1096A,Missense_T960A,Missense_T960A exm1066104 13 42793468 [A/C] NM_001204504,NM_178009,NM_152910,NM_001204505,NM_001204506 DGKH,DGKH,DGKH,DGKH,DGKH EXON Missense_H1106N,Missense_H1106N,Missense_H1106N,Missense_H970N,Missense_H970N exm1066109 13 42793871 [A/G] NM_001204504,NM_178009,NM_152910,NM_001204505,NM_001204506 DGKH,DGKH,DGKH,DGKH,DGKH EXON Missense_R1128Q,Missense_R1128Q,Missense_R1128Q,Missense_R992Q,Missense_R992Q exm1066112 13 42795408 [T/C] NM_001204504,NM_178009,NM_152910,NM_001204505,NM_001204506 DGKH,DGKH,DGKH,DGKH,DGKH EXON Silent,Missense_W1151R,Silent,Missense_W1015R,Missense_W1015R exm1066120 13 42795507 [T/C] NM_001204504,NM_178009,NM_152910,NM_001204505,NM_001204506 DGKH,DGKH,DGKH,DGKH,DGKH EXON Silent,Missense_H1184Y,Silent,Missense_H1048Y,Missense_H1048Y exm1796914 13 42795514 [A/G] NM_001204504,NM_178009,NM_152910,NM_001204505,NM_001204506 DGKH,DGKH,DGKH,DGKH,DGKH EXON Silent,Missense_E1186G,Silent,Missense_E1050G,Missense_E1050G exm1066128 13 42803263 [T/C] NM_001204504,NM_178009,NM_152910,NM_001204505,NM_001204506 DGKH,DGKH,DGKH,DGKH,DGKH EXON Synonymous_C1157C,Missense_V1201A,Synonymous_C1157C,Missense_V1081A,Missense_V1065A exm2273507 13 42803341 [T/C] NM_001204504,NM_178009,NM_152910,NM_001204505,NM_001204506 DGKH,DGKH,DGKH,DGKH,DGKH EXON Silent,Silent,Silent,Silent,Silent exm1066136 13 42866585 [T/G] NM_016248 AKAP11 EXON Missense_S39I exm1066143 13 42871281 [A/G] NM_016248 AKAP11 EXON Missense_N105S exm1066157 13 42872866 [A/G] NM_016248 AKAP11 EXON Missense_I183M exm1066158 13 42872906 [G/C] NM_016248 AKAP11 EXON Missense_E197Q exm1066161 13 42873552 [A/T] NM_016248 AKAP11 EXON Missense_T224S exm1796965 13 42873852 [A/G] NM_016248 AKAP11 EXON Missense_G324R exm1066172 13 42873889 [T/C] NM_016248 AKAP11 EXON Missense_P336L exm1066173 13 42873915 [A/G] NM_016248 AKAP11 EXON Missense_I345V exm1066197 13 42874425 [A/G] NM_016248 AKAP11 EXON Missense_I515V exm1066198 13 42874434 [A/G] NM_016248 AKAP11 EXON Missense_I518V exm1066203 13 42874595 [A/C] NM_016248 AKAP11 EXON Missense_K571N exm1066204 13 42874596 [C/G] NM_016248 AKAP11 EXON Missense_G572R exm1066205 13 42874615 [A/G] NM_016248 AKAP11 EXON Missense_N578S exm1066206 13 42874690 [A/G] NM_016248 AKAP11 EXON Missense_R603H exm1066207 13 42874710 [T/C] NM_016248 AKAP11 EXON Missense_R610C exm1066211 13 42874891 [T/C] NM_016248 AKAP11 EXON Missense_T670M exm1066214 13 42875044 [G/C] NM_016248 AKAP11 EXON Missense_S721C exm1066215 13 42875047 [T/C] NM_016248 AKAP11 EXON Missense_T722M exm1066218 13 42875089 [T/C] NM_016248 AKAP11 EXON Missense_S736L exm1066221 13 42875125 [A/G] NM_016248 AKAP11 EXON Missense_N748S exm1066224 13 42875170 [A/G] NM_016248 AKAP11 EXON Missense_E763G exm1066227 13 42875257 [A/G] NM_016248 AKAP11 EXON Missense_Y792C exm1066235 13 42875500 [A/G] NM_016248 AKAP11 EXON Missense_S873N exm1066239 13 42875587 [A/G] NM_016248 AKAP11 EXON Missense_E902G exm1066242 13 42875590 [A/G] NM_016248 AKAP11 EXON Missense_R903H exm1066243 13 42875683 [A/G] NM_016248 AKAP11 EXON Missense_N934S exm1066244 13 42875721 [A/G] NM_016248 AKAP11 EXON Missense_I947V exm1796977 13 42875922 [A/G] NM_016248 AKAP11 EXON Missense_M1014V exm1066248 13 42875970 [A/G] NM_016248 AKAP11 EXON Missense_T1030A exm1066253 13 42876091 [A/G] NM_016248 AKAP11 EXON Missense_H1070R exm1066256 13 42876103 [T/C] NM_016248 AKAP11 EXON Missense_S1074F exm1796979 13 42876127 [T/G] NM_016248 AKAP11 EXON Missense_G1082V exm1066261 13 42876205 [T/C] NM_016248 AKAP11 EXON Missense_P1108L exm1066262 13 42876210 [T/C] NM_016248 AKAP11 EXON Missense_R1110W exm1066266 13 42876324 [A/G] NM_016248 AKAP11 EXON Missense_S1148G exm1066270 13 42876464 [T/G] NM_016248 AKAP11 EXON Missense_K1194N exm2274655 13 42876668 [T/G] NM_016248 AKAP11 EXON Missense_D1262E exm1066284 13 42876715 [A/G] NM_016248 AKAP11 EXON Missense_R1278Q exm2221686 13 42876798 [A/G] NM_016248 AKAP11 EXON Missense_I1306V exm1066290 13 42876807 [A/G] NM_016248 AKAP11 EXON Missense_V1309I exm1066292 13 42876832 [T/C] NM_016248 AKAP11 EXON Missense_P1317L exm1066294 13 42876835 [T/G] NM_016248 AKAP11 EXON Missense_F1318C exm1066296 13 42876861 [T/C] NM_016248 AKAP11 EXON Missense_C1327R exm1066299 13 42876918 [T/G] NM_016248 AKAP11 EXON Missense_A1346S exm1066302 13 42876988 [A/G] NM_016248 AKAP11 EXON Missense_N1369S exm1066303 13 42876996 [A/G] NM_016248 AKAP11 EXON Missense_A1372T exm1066308 13 42877112 [A/C] NM_016248 AKAP11 EXON Missense_L1410F exm1066313 13 42877257 [A/G] NM_016248 AKAP11 EXON Missense_T1459A exm1066322 13 42877455 [A/G] NM_016248 AKAP11 EXON Missense_G1525S exm2251446 13 42877580 [T/C] NM_016248 AKAP11 EXON Synonymous_T1566T exm1066332 13 42877695 [G/C] NM_016248 AKAP11 EXON Missense_H1605D exm1066335 13 42877750 [T/G] NM_016248 AKAP11 EXON Missense_F1623C exm1066338 13 42877758 [T/C] NM_016248 AKAP11 EXON Missense_R1626C exm1066341 13 42877799 [T/G] NM_016248 AKAP11 EXON Missense_Q1639H exm1066350 13 42877998 [A/G] NM_016248 AKAP11 EXON Missense_S1706G exm1066360 13 42887253 [C/G] NM_016248 AKAP11 EXON Missense_P1782A exm2267514 13 42932925 [A/G] exm-rs9533090 13 42951449 [T/C] exm-rs9594738 13 42952145 [T/C] exm-rs9594759 13 43032593 [T/C] exm-rs2062305 13 43052880 [A/G] exm-rs9315923 13 43070894 [T/C] exm-rs1021188 13 43116133 [T/C] exm1066384 13 43148653 [A/G] NM_033012,NM_003701 TNFSF11,TNFSF11 EXON Silent,Missense_A72T exm1066388 13 43155281 [T/C] NM_033012,NM_003701 TNFSF11,TNFSF11 EXON Missense_S7L,Missense_S80L exm1066399 13 43174920 [C/G] NM_033012,NM_003701 TNFSF11,TNFSF11 EXON Missense_I67M,Missense_I140M exm1066400 13 43175019 [T/C] NM_033012,NM_003701 TNFSF11,TNFSF11 EXON Missense_A72V,Missense_A145V exm1066406 13 43180634 [T/C] NM_033012,NM_003701 TNFSF11,TNFSF11 EXON Synonymous_G105G,Synonymous_G178G exm2267598 13 43196187 [A/G] exm1066427 13 43358264 [T/C] NM_182508 FAM216B EXON Nonsense_R21X exm1066431 13 43360920 [T/C] NM_182508 FAM216B EXON Missense_R41C exm1797030 13 43362769 [T/G] NM_182508 FAM216B EXON Missense_L88R exm1066447 13 43362844 [T/C] NM_182508 FAM216B EXON Missense_T113I exm1066450 13 43362906 [T/C] NM_182508 FAM216B EXON Missense_R134C exm2251448 13 43456753 [T/G] exm1066453 13 43462422 [T/A] NM_033255,NM_001002264 EPSTI1,EPSTI1 EXON Silent,Missense_N399K exm1066464 13 43462597 [T/G] NM_033255,NM_001002264 EPSTI1,EPSTI1 EXON Silent,Missense_T341N exm1066465 13 43462607 [A/G] NM_033255,NM_001002264 EPSTI1,EPSTI1 EXON Silent,Missense_P338S exm2221688 13 43463359 [A/G] NM_033255,NM_001002264 EPSTI1,EPSTI1 EXON Silent,Missense_S323L exm1066469 13 43463378 [T/C] NM_033255,NM_001002264 EPSTI1,EPSTI1 EXON Silent,Missense_G317S exm1066478 13 43469222 [A/G] NM_033255,NM_001002264 EPSTI1,EPSTI1 EXON Nonsense_R280X,Nonsense_R291X exm1797049 13 43500501 [T/C] NM_033255,NM_001002264 EPSTI1,EPSTI1 EXON Missense_A210T,Missense_A210T exm1066494 13 43500527 [A/G] NM_033255,NM_001002264 EPSTI1,EPSTI1 EXON Missense_S201L,Missense_S201L exm1066496 13 43500557 [A/G] NM_033255,NM_001002264 EPSTI1,EPSTI1 EXON Missense_A191V,Missense_A191V exm1066499 13 43528113 [T/G] NM_033255,NM_001002264 EPSTI1,EPSTI1 EXON Missense_R178S,Missense_R178S exm1066501 13 43528158 [A/C] NM_033255,NM_001002264 EPSTI1,EPSTI1 Silent,Silent exm1066503 13 43537429 [T/C] NM_033255,NM_001002264 EPSTI1,EPSTI1 EXON Missense_A151T,Missense_A151T exm1066504 13 43537435 [T/C] NM_033255,NM_001002264 EPSTI1,EPSTI1 EXON Missense_E149K,Missense_E149K exm1066508 13 43543236 [A/G] NM_033255,NM_001002264 EPSTI1,EPSTI1 EXON Missense_R109W,Missense_R109W exm1066512 13 43543265 [T/C] NM_033255,NM_001002264 EPSTI1,EPSTI1 EXON Missense_R99K,Missense_R99K exm1066518 13 43544751 [T/C] NM_033255,NM_001002264 EPSTI1,EPSTI1 EXON Missense_R82G,Missense_R82G exm1066533 13 43597772 [G/C] NM_013238 DNAJC15 EXON Missense_R4G exm1066537 13 43597865 [A/G] NM_013238 DNAJC15 EXON Missense_R35G exm1066549 13 43643126 [A/C] NM_013238 DNAJC15 EXON Missense_K74T exm1066553 13 43659917 [A/C] NM_013238 DNAJC15 EXON Missense_K109Q exm1066555 13 43681312 [A/G] NM_013238 DNAJC15 Silent exm1066557 13 43681328 [A/G] NM_013238 DNAJC15 EXON Missense_V133I exm-rs1324015 13 43727849 [A/G] exm1797079 13 43788177 [A/C] NM_017993,NM_001242863,NM_001127615 ENOX1,ENOX1,ENOX1 EXON Synonymous_T627T,Synonymous_T627T,Synonymous_T627T exm1066585 13 43872493 [G/C] NM_017993,NM_001242863,NM_001127615 ENOX1,ENOX1,ENOX1 EXON Missense_G479R,Missense_G479R,Missense_G479R exm1066596 13 43896594 [T/C] NM_017993,NM_001242863,NM_001127615 ENOX1,ENOX1,ENOX1 EXON Missense_R396H,Missense_R396H,Missense_R396H exm1066600 13 43918681 [A/G] NM_017993,NM_001242863,NM_001127615 ENOX1,ENOX1,ENOX1 EXON Synonymous_L343L,Synonymous_L343L,Synonymous_L343L exm1066611 13 43930132 [T/C] NM_017993,NM_001242863,NM_001127615 ENOX1,ENOX1,ENOX1 EXON Missense_R249Q,Missense_R249Q,Missense_R249Q exm1066617 13 43930260 [A/G] NM_017993,NM_001242863,NM_001127615 ENOX1,ENOX1,ENOX1 EXON Synonymous_T206T,Synonymous_T206T,Synonymous_T206T exm2251449 13 43935476 [T/C] NM_017993,NM_001242863,NM_001127615 ENOX1,ENOX1,ENOX1 EXON Synonymous_E107E,Synonymous_E107E,Synonymous_E107E exm1066632 13 43935587 [A/G] NM_017993,NM_001242863,NM_001127615 ENOX1,ENOX1,ENOX1 EXON Synonymous_D70D,Synonymous_D70D,Synonymous_D70D exm2271932 13 43944759 [T/G] NM_017993,NM_001242863,NM_001127615 ENOX1,ENOX1,ENOX1 Silent,Silent,Silent exm1066634 13 43986063 [T/C] NM_017993,NM_001242863,NM_001127615 ENOX1,ENOX1,ENOX1 EXON Missense_Q66R,Missense_Q66R,Missense_Q66R exm1066640 13 43987003 [G/C] NM_017993,NM_001242863,NM_001127615 ENOX1,ENOX1,ENOX1 EXON Missense_E16D,Missense_E16D,Missense_E16D exm2260207 13 43987329 [T/C] NM_017993,NM_001242863,NM_001127615 ENOX1,ENOX1,ENOX1 Silent,Silent,Silent exm2271933 13 44236039 [T/C] NM_017993,NM_001242863 ENOX1,ENOX1 Silent,Silent exm1066642 13 44411421 [T/C] NM_144974 CCDC122 EXON Missense_E273K exm1066643 13 44411432 [A/G] NM_144974 CCDC122 EXON Missense_I269T exm1797113 13 44442874 [T/C] NM_144974 CCDC122 EXON Missense_A38T exm1066671 13 44455233 [A/G] NM_001128303,NM_153218 LACC1,LACC1 EXON Missense_K38E,Missense_K38E exm1066676 13 44455323 [A/G] NM_001128303,NM_153218 LACC1,LACC1 EXON Missense_G68R,Missense_G68R exm1066678 13 44455369 [A/G] NM_001128303,NM_153218 LACC1,LACC1 EXON Missense_S83N,Missense_S83N exm1066679 13 44455444 [T/C] NM_001128303,NM_153218 LACC1,LACC1 EXON Missense_P108L,Missense_P108L exm1066694 13 44456492 [A/G] NM_001128303,NM_153218 LACC1,LACC1 EXON Missense_R245Q,Missense_R245Q exm1066695 13 44457925 [A/G] NM_001128303,NM_153218 LACC1,LACC1 EXON Missense_I254V,Missense_I254V exm1066709 13 44463003 [T/C] NM_001128303,NM_153218 LACC1,LACC1 EXON Missense_P340S,Missense_P340S exm1066717 13 44464404 [T/G] NM_001128303,NM_153218 LACC1,LACC1 EXON Nonsense_E430X,Nonsense_E430X exm2260208 13 44677509 [T/G] exm2264513 13 44808665 [A/C] exm1066733 13 45008787 [A/G] NM_183422,NM_001243799,NM_006022,NM_001243797,NM_001243798 TSC22D1,TSC22D1,TSC22D1,TSC22D1,TSC22D1 EXON Missense_S1066L,Silent,Missense_S137L,Missense_S79L,Missense_S79L exm1797131 13 45008839 [A/G] NM_183422,NM_001243799,NM_006022,NM_001243797,NM_001243798 TSC22D1,TSC22D1,TSC22D1,TSC22D1,TSC22D1 EXON Missense_P1049S,Silent,Missense_P120S,Missense_P62S,Missense_P62S exm-rs1336163 13 45090478 [A/C] NM_183422,NM_001243799 TSC22D1,TSC22D1 Silent,Silent exm1066753 13 45147305 [A/T] NM_183422,NM_001243799 TSC22D1,TSC22D1 EXON Missense_D969V,Silent exm1066764 13 45147516 [T/C] NM_183422,NM_001243799 TSC22D1,TSC22D1 EXON Missense_A899T,Silent exm1066786 13 45147926 [A/G] NM_183422,NM_001243799 TSC22D1,TSC22D1 EXON Missense_S762L,Silent exm1066790 13 45147986 [T/A] NM_183422,NM_001243799 TSC22D1,TSC22D1 EXON Missense_V742E,Silent exm1066791 13 45147990 [T/C] NM_183422,NM_001243799 TSC22D1,TSC22D1 EXON Missense_A741T,Silent exm1066801 13 45148257 [A/G] NM_183422,NM_001243799 TSC22D1,TSC22D1 EXON Missense_P652S,Silent exm2221694 13 45148657 [T/A] NM_183422,NM_001243799 TSC22D1,TSC22D1 EXON Missense_Q518H,Missense_Q518H exm1066825 13 45148825 [A/C] NM_183422,NM_001243799 TSC22D1,TSC22D1 EXON Missense_R462S,Missense_R462S exm1066844 13 45149445 [T/C] NM_183422,NM_001243799 TSC22D1,TSC22D1 EXON Missense_S256G,Missense_S256G exm1066846 13 45149535 [T/C] NM_183422,NM_001243799 TSC22D1,TSC22D1 EXON Missense_I226V,Missense_I226V exm1066859 13 45149752 [C/G] NM_183422,NM_001243799 TSC22D1,TSC22D1 EXON Missense_E153D,Missense_E153D exm1066868 13 45149951 [A/C] NM_183422,NM_001243799 TSC22D1,TSC22D1 EXON Missense_L87R,Missense_L87R exm1066871 13 45149973 [A/G] NM_183422,NM_001243799 TSC22D1,TSC22D1 EXON Missense_P80S,Missense_P80S exm1066875 13 45150032 [A/G] NM_183422,NM_001243799,NR_038381 TSC22D1,TSC22D1,TSC22D1-AS1 EXON Missense_P60L,Missense_P60L,Silent exm1066879 13 45150100 [G/C] NM_183422,NM_001243799,NR_038381 TSC22D1,TSC22D1,TSC22D1-AS1 EXON Missense_S37R,Missense_S37R,Silent exm1066881 13 45150122 [T/C] NM_183422,NM_001243799,NR_038381 TSC22D1,TSC22D1,TSC22D1-AS1 EXON Missense_R30Q,Missense_R30Q,Silent exm1066883 13 45150125 [A/G] NM_183422,NM_001243799,NR_038381 TSC22D1,TSC22D1,TSC22D1-AS1 EXON Missense_P29L,Missense_P29L,Silent exm1066884 13 45150135 [T/C] NM_183422,NM_001243799,NR_038381 TSC22D1,TSC22D1,TSC22D1-AS1 EXON Missense_A26T,Missense_A26T,Silent exm2267515 13 45321621 [A/G] exm1066900 13 45517616 [T/A] NM_012345 NUFIP1 EXON Missense_L444F exm1066901 13 45517620 [A/G] NM_012345 NUFIP1 EXON Missense_T443M exm1066910 13 45523975 [T/A] NM_012345 NUFIP1 Silent exm1066920 13 45533678 [T/C] NM_012345 NUFIP1 EXON Missense_M287V exm2251454 13 45563215 [A/G] NM_012345 NUFIP1 EXON Synonymous_Y119Y exm1066960 13 45563535 [T/C] NM_012345 NUFIP1 EXON Missense_G13R exm1066965 13 45563815 [T/C] NM_018559 KIAA1704 EXON Missense_A9V exm1066979 13 45583006 [C/G] NM_018559 KIAA1704 EXON Missense_G134R exm1066982 13 45589126 [A/G] NM_018559 KIAA1704 EXON Missense_M150V exm1066984 13 45589192 [A/G] NM_018559 KIAA1704 EXON Missense_K172E exm1066988 13 45589616 [G/C] NM_018559 KIAA1704 EXON Missense_P197R exm1066990 13 45589633 [T/G] NM_018559 KIAA1704 EXON Missense_G203C exm2221699 13 45594549 [A/G] NM_018559 KIAA1704 EXON Missense_V264I exm1066997 13 45601935 [A/G] NM_018559 KIAA1704 EXON Missense_E274K exm1066998 13 45601999 [T/C] NM_018559 KIAA1704 EXON Missense_P295L exm1067002 13 45602125 [A/G] NM_018559 KIAA1704 EXON Missense_N337S exm1067020 13 45725859 [A/G] NM_004128 GTF2F2 EXON Missense_H66R exm1067021 13 45725918 [G/C] NM_004128 GTF2F2 EXON Missense_Q86E exm1067049 13 45768674 [T/C] NM_004128,NM_198404 GTF2F2,KCTD4 EXON Silent,Missense_K10R exm1067056 13 45781579 [A/G] NM_004128 GTF2F2 EXON Missense_I109V exm1067061 13 45841437 [A/G] NM_004128 GTF2F2 EXON Missense_M186V exm1067063 13 45841507 [T/C] NM_004128 GTF2F2 EXON Missense_P209L exm1067086 13 45913651 [C/G] NM_003295 TPT1 EXON Missense_A127G exm1067124 13 45970147 [A/G] NM_001010875 SLC25A30 EXON Missense_F280L exm1067127 13 45971442 [T/C] NM_001010875 SLC25A30 EXON Missense_Y262C exm1067130 13 45973124 [T/C] NM_001010875 SLC25A30 EXON Missense_R235Q exm1067132 13 45973149 [A/G] NM_001010875 SLC25A30 EXON Missense_R227C exm1797259 13 45978486 [A/C] NM_001010875 SLC25A30 EXON Missense_I123M exm2221705 13 45983099 [T/C] NM_001010875 SLC25A30 EXON Missense_I59V exm1067157 13 45983125 [T/C] NM_001010875 SLC25A30 EXON Missense_R50Q exm1067173 13 46039206 [T/C] NM_031431 COG3 EXON Missense_A12V exm1067175 13 46039290 [C/G] NM_031431 COG3 EXON Missense_T40R exm1067180 13 46050384 [A/G] NM_031431 COG3 EXON Missense_E75K exm1067181 13 46050474 [A/G] NM_031431 COG3 EXON Missense_A105T exm1067186 13 46054358 [A/G] NM_031431 COG3 EXON Missense_Q161R exm1067193 13 46056538 [T/C] NM_031431 COG3 EXON Missense_S216L exm1067197 13 46060632 [A/T] NM_031431 COG3 EXON Missense_D282E exm1067215 13 46070380 [T/C] NM_031431 COG3 EXON Missense_T474M exm1067235 13 46099118 [T/C] NM_031431 COG3 EXON Missense_A721V exm1067236 13 46099171 [T/C] NM_031431 COG3 EXON Missense_P739S exm1067237 13 46103935 [A/G] NM_031431 COG3 EXON Missense_N747S exm1067238 13 46103970 [A/G] NM_031431 COG3 EXON Missense_T759A exm1067240 13 46104832 [A/G] NM_031431 COG3 EXON Missense_V792I exm1067248 13 46108853 [T/C] NM_031431 COG3 EXON Missense_L825S exm1067251 13 46108856 [T/C] NM_031431 COG3 EXON Missense_V826A exm1067257 13 46115707 [A/G] NM_182542 FAM194B EXON Missense_L661F exm1067259 13 46115731 [A/C] NM_182542 FAM194B EXON Missense_V653F exm1067262 13 46115755 [T/C] NM_182542 FAM194B EXON Missense_G645S exm1067272 13 46124056 [T/C] NM_182542 FAM194B EXON Missense_T540A exm1067276 13 46124375 [G/C] NM_182542 FAM194B EXON Missense_G495A exm1067282 13 46135553 [T/C] NM_182542 FAM194B EXON Missense_H453R exm1067285 13 46135631 [A/G] NM_182542 FAM194B EXON Missense_T427I exm1067288 13 46137883 [A/G] NM_182542 FAM194B EXON Missense_R410W exm1067294 13 46142582 [A/G] NM_182542 FAM194B EXON Missense_L352S exm1067301 13 46154749 [A/G] NM_182542 FAM194B EXON Missense_L303P exm1067305 13 46161262 [G/C] NM_182542 FAM194B EXON Missense_L264F exm1067309 13 46170609 [T/C] NM_182542 FAM194B EXON Missense_E178K exm1067310 13 46170621 [T/A] NM_182542 FAM194B EXON Missense_S174T exm1067314 13 46170656 [A/G] NM_182542 FAM194B EXON Missense_A162V exm1797311 13 46170719 [T/C] NM_182542 FAM194B EXON Missense_G141E exm1067320 13 46170737 [T/C] NM_182542 FAM194B EXON Missense_E135G exm1067330 13 46171071 [T/C] NM_182542 FAM194B EXON Missense_T24A exm2272009 13 46270262 [T/G] exm1067352 13 46287373 [A/C] NM_152719 SPERT EXON Nonsense_C71X exm1067368 13 46287707 [A/C] NM_152719 SPERT EXON Missense_R183S exm1067371 13 46287785 [G/C] NM_152719 SPERT EXON Missense_R209G exm1067373 13 46287804 [G/C] NM_152719 SPERT EXON Missense_P215R exm1067378 13 46287911 [T/C] NM_152719 SPERT EXON Missense_R251W exm1067389 13 46288145 [A/G] NM_152719 SPERT EXON Missense_K329E exm1067399 13 46288359 [T/C] NM_152719 SPERT EXON Missense_L400P exm1067402 13 46288445 [A/G] NM_152719 SPERT EXON Missense_E429K exm1067418 13 46357769 [T/C] NM_198849 SIAH3 EXON Missense_M187V exm1067419 13 46357853 [T/C] NM_198849 SIAH3 EXON Missense_M159V exm1067434 13 46358111 [A/G] NM_198849 SIAH3 EXON Missense_C73R exm1067442 13 46358177 [T/G] NM_198849 SIAH3 EXON Missense_R51S exm1067451 13 46538118 [T/G] NM_015070 ZC3H13 EXON Missense_P1512T exm1067453 13 46538138 [A/C] NM_015070 ZC3H13 EXON Missense_M1505R exm1067460 13 46541673 [A/T] NM_015070 ZC3H13 EXON Missense_E1429D exm1067462 13 46541724 [G/C] NM_015070 ZC3H13 EXON Missense_L1412F exm1067466 13 46541811 [A/T] NM_015070 ZC3H13 EXON Missense_Q1383H exm1067470 13 46541962 [T/C] NM_015070 ZC3H13 EXON Missense_R1333H exm1067482 13 46543014 [T/C] NM_015070 ZC3H13 EXON Missense_S1222N exm1067487 13 46543092 [T/C] NM_015070 ZC3H13 EXON Missense_R1196Q exm1067488 13 46543137 [T/C] NM_015070 ZC3H13 EXON Missense_R1181H exm1067490 13 46543185 [A/G] NM_015070 ZC3H13 EXON Missense_V1165A exm1067499 13 46543270 [T/C] NM_015070 ZC3H13 EXON Missense_I1137V exm1067506 13 46543342 [T/C] NM_015070 ZC3H13 EXON Missense_T1113A exm1797358 13 46543360 [T/C] NM_015070 ZC3H13 EXON Missense_V1107M exm1067514 13 46543422 [A/G] NM_015070 ZC3H13 EXON Missense_T1086I exm2251458 13 46543484 [A/G] NM_015070 ZC3H13 EXON Synonymous_S1065S exm1067519 13 46543539 [T/C] NM_015070 ZC3H13 EXON Missense_N1047S exm1067523 13 46543666 [T/G] NM_015070 ZC3H13 EXON Missense_K1005Q exm1067532 13 46543882 [A/G] NM_015070 ZC3H13 EXON Missense_R933C exm1067535 13 46543998 [T/C] NM_015070 ZC3H13 EXON Missense_R894H exm1067545 13 46544568 [A/G] NM_015070 ZC3H13 EXON Missense_P834L exm1067546 13 46549487 [T/C] NM_015070 ZC3H13 EXON Missense_R800H exm1067561 13 46549648 [A/T] NM_015070 ZC3H13 EXON Missense_E746D exm1067562 13 46549654 [T/G] NM_015070 ZC3H13 EXON Missense_D744E exm1067585 13 46554011 [G/C] NM_015070 ZC3H13 EXON Missense_A617P exm1067604 13 46559789 [T/C] NM_015070 ZC3H13 EXON Missense_G455S exm1067612 13 46563074 [T/C] NM_015070 ZC3H13 EXON Missense_R368Q exm1067616 13 46563128 [T/C] NM_015070 ZC3H13 EXON Missense_R350H exm1067617 13 46563129 [A/G] NM_015070 ZC3H13 EXON Missense_R350C exm1797379 13 46577362 [T/C] NM_015070 ZC3H13 EXON Missense_V286I exm1067627 13 46577380 [A/G] NM_015070 ZC3H13 EXON Missense_Y280H exm1067636 13 46584535 [T/C] NM_015070 ZC3H13 EXON Missense_K232E exm1067642 13 46584582 [T/C] NM_015070 ZC3H13 EXON Missense_S216N exm1067648 13 46594619 [T/C] NM_015070 ZC3H13 EXON Missense_E138G exm1067659 13 46619175 [T/C] NM_015070 ZC3H13 EXON Missense_T48A exm1067665 13 46627762 [A/T] NR_046226,NR_046227,NM_001872 CPB2-AS1,CPB2-AS1,CPB2 EXON Silent,Silent,Missense_I420N exm1067668 13 46627806 [A/G] NR_046226,NR_046227,NM_001872 CPB2-AS1,CPB2-AS1,CPB2 EXON Silent,Silent,Synonymous_C405C exm1067677 13 46629944 [A/G] NR_046226,NR_046227,NM_001872 CPB2-AS1,CPB2-AS1,CPB2 EXON Silent,Silent,Missense_I347T exm1067696 13 46648069 [T/C] NR_046226,NR_046227,NM_001872 CPB2-AS1,CPB2-AS1,CPB2 EXON Silent,Silent,Missense_D177G exm1067697 13 46648094 [T/C] NR_046226,NR_046227,NM_001872 CPB2-AS1,CPB2-AS1,CPB2 EXON Silent,Silent,Missense_A169T exm1067698 13 46652943 [T/C] NR_046226,NR_046227,NM_001872 CPB2-AS1,CPB2-AS1,CPB2 EXON Silent,Silent,Missense_V160I exm2251460 13 46652947 [C/G] NR_046226,NR_046227,NM_001872 CPB2-AS1,CPB2-AS1,CPB2 EXON Silent,Silent,Synonymous_L158L exm1067702 13 46656611 [T/C] NR_046226,NR_046227,NM_001872 CPB2-AS1,CPB2-AS1,CPB2 EXON Silent,Silent,Missense_A117T exm1067732 13 46704998 [A/G] NM_002298 LCP1 EXON Missense_L568F exm1067738 13 46705070 [G/C] NM_002298 LCP1 EXON Missense_P544A exm1067739 13 46708276 [T/C] NM_002298 LCP1 EXON Missense_I538V exm1067740 13 46708287 [T/G] NM_002298 LCP1 EXON Missense_K534T exm1067741 13 46708291 [T/C] NM_002298 LCP1 EXON Missense_K533E exm2251461 13 46717449 [A/G] NM_002298 LCP1 EXON Synonymous_P448P exm1067760 13 46718638 [A/G] NM_002298 LCP1 EXON Missense_R398W exm1067766 13 46721177 [T/C] NM_002298 LCP1 EXON Missense_R347Q exm1067767 13 46721178 [A/G] NM_002298 LCP1 EXON Missense_R347W exm1797441 13 46722488 [T/C] NM_002298 LCP1 EXON Missense_R326Q exm2274656 13 46722501 [T/C] NM_002298 LCP1 EXON Missense_M322V exm1067770 13 46725163 [T/G] NM_002298 LCP1 EXON Missense_L264I exm1067771 13 46725183 [T/C] NM_002298 LCP1 EXON Missense_S257N exm1067772 13 46726923 [T/C] NM_002298 LCP1 EXON Missense_R244K exm1067773 13 46726933 [T/C] NM_002298 LCP1 EXON Missense_E241K exm1067781 13 46730642 [T/C] NM_002298 LCP1 EXON Missense_R141Q exm1067782 13 46730667 [T/C] NM_002298 LCP1 EXON Missense_A133T exm1067785 13 46733070 [A/G] NM_002298 LCP1 EXON Missense_A40V exm2251462 13 46752813 [A/G] NM_002298 LCP1 Silent exm1067811 13 46917631 [T/C] NM_025113 KIAA0226L EXON Synonymous_A626A exm1067812 13 46917632 [A/G] NM_025113 KIAA0226L EXON Missense_A626V exm1067813 13 46918923 [A/G] NM_025113 KIAA0226L EXON Missense_T610M exm1067814 13 46918939 [C/G] NM_025113 KIAA0226L EXON Missense_E605Q exm1067819 13 46919671 [T/C] NM_025113 KIAA0226L EXON Missense_E566K exm1067838 13 46930565 [A/G] NM_025113 KIAA0226L Silent exm1067843 13 46935652 [T/C] NM_025113 KIAA0226L EXON Missense_R348H exm1067847 13 46935685 [T/C] NM_025113 KIAA0226L EXON Missense_N337S exm1067849 13 46936672 [T/C] NM_025113 KIAA0226L Silent exm1067852 13 46937274 [T/C] NM_025113 KIAA0226L EXON Missense_D301N exm1067857 13 46942314 [T/C] NM_025113 KIAA0226L EXON Missense_S230N exm1067862 13 46942882 [T/C] NM_025113 KIAA0226L EXON Missense_V202I exm1067866 13 46942949 [A/C] NM_025113 KIAA0226L EXON Synonymous_G179G exm1067868 13 46946076 [G/C] NM_025113 KIAA0226L EXON Missense_G179R exm1067869 13 46946099 [A/T] NM_025113 KIAA0226L EXON Missense_H171L exm1067872 13 46946157 [T/C] NM_025113 KIAA0226L EXON Missense_G152R exm1067879 13 46946276 [A/G] NM_025113 KIAA0226L EXON Missense_V112A exm2221719 13 46946277 [T/C] NM_025113 KIAA0226L EXON Missense_V112I exm1067880 13 46946333 [A/G] NM_025113 KIAA0226L EXON Missense_S93L exm1067881 13 46946451 [T/C] NM_025113 KIAA0226L EXON Missense_I54V exm1797495 13 46946507 [T/G] NM_025113 KIAA0226L EXON Missense_T35N exm1067888 13 46946546 [T/A] NM_025113 KIAA0226L EXON Missense_H22L exm1067889 13 46946547 [A/G] NM_025113 KIAA0226L EXON Missense_H22Y exm1067906 13 47127796 [A/G] NM_001164213,NM_015116,NM_001164211 LRCH1,LRCH1,LRCH1 EXON Missense_T89A,Missense_T89A,Missense_T89A exm1067919 13 47243196 [G/C] NM_001164213,NM_015116,NM_001164211 LRCH1,LRCH1,LRCH1 EXON Missense_L162V,Missense_L162V,Missense_L162V exm1067920 13 47243275 [A/G] NM_001164213,NM_015116,NM_001164211 LRCH1,LRCH1,LRCH1 EXON Missense_K188R,Missense_K188R,Missense_K188R exm1067928 13 47260054 [T/C] NM_001164213,NM_015116,NM_001164211 LRCH1,LRCH1,LRCH1 EXON Missense_S234P,Missense_S234P,Missense_S234P exm1067953 13 47269075 [A/C] NM_001164213,NM_015116,NM_001164211 LRCH1,LRCH1,LRCH1 EXON Missense_S390R,Missense_S390R,Missense_S390R exm1067961 13 47273501 [T/C] NM_001164213,NM_015116,NM_001164211 LRCH1,LRCH1,LRCH1 EXON Missense_R426W,Missense_R426W,Missense_R426W exm1067962 13 47275283 [A/G] NM_001164213,NM_015116,NM_001164211 LRCH1,LRCH1,LRCH1 EXON Missense_M447I,Missense_M447I,Missense_M447I exm1067975 13 47286676 [T/C] NM_001164213,NM_015116,NM_001164211 LRCH1,LRCH1,LRCH1 EXON Missense_P533L,Missense_P533L,Missense_P533L exm2221720 13 47289718 [A/G] NM_001164213,NM_015116,NM_001164211 LRCH1,LRCH1,LRCH1 EXON Silent,Silent,Missense_I560V exm1067987 13 47303015 [A/G] NM_001164213,NM_015116,NM_001164211 LRCH1,LRCH1,LRCH1 EXON Missense_E600K,Missense_E600K,Missense_E635K exm1067988 13 47303075 [T/C] NM_001164213,NM_015116,NM_001164211 LRCH1,LRCH1,LRCH1 EXON Missense_R620C,Missense_R620C,Missense_R655C exm1797544 13 47315777 [T/G] NM_001164213,NM_015116,NM_001164211 LRCH1,LRCH1,LRCH1 EXON Silent,Missense_A661S,Missense_A696S exm1067996 13 47315892 [A/G] NM_001164213,NM_015116,NM_001164211 LRCH1,LRCH1,LRCH1 EXON Silent,Missense_R699H,Missense_R734H exm1067997 13 47315897 [A/G] NM_001164213,NM_015116,NM_001164211 LRCH1,LRCH1,LRCH1 EXON Silent,Missense_R701G,Missense_R736G exm1068007 13 47324762 [A/G] NM_001164213 LRCH1 EXON Missense_V690I exm1068014 13 47345630 [T/C] NM_001984 ESD EXON Missense_G257D exm1797551 13 47351667 [T/C] NM_001984 ESD EXON Missense_D231G exm1068027 13 47354101 [T/C] NM_001984 ESD EXON Missense_G190E exm1068030 13 47355661 [A/G] NM_001984 ESD EXON Synonymous_I157I exm1068039 13 47358387 [A/G] NM_001984 ESD EXON Missense_R86C exm1068060 13 47409048 [A/G] NM_001165947,NM_000621 HTR2A,HTR2A EXON Missense_A363V,Missense_A447V exm1068061 13 47409049 [T/C] NM_001165947,NM_000621 HTR2A,HTR2A EXON Missense_A363T,Missense_A447T exm1068076 13 47409480 [A/G] NM_001165947,NM_000621 HTR2A,HTR2A EXON Missense_P219L,Missense_P303L exm1068083 13 47409700 [T/C] NM_001165947,NM_000621 HTR2A,HTR2A EXON Missense_A146T,Missense_A230T exm1068096 13 47469968 [T/G] NM_001165947,NM_000621 HTR2A,HTR2A EXON Silent,Missense_T25N exm1068100 13 47470824 [T/C] NM_001165947,NM_000621 HTR2A,HTR2A EXON Missense_D49N,Silent exm2272010 13 48101436 [T/C] exm2264514 13 48131845 [A/C] exm-rs2478333 13 48162558 [A/C] exm-rs1575891 13 48198716 [T/C] exm2267518 13 48420218 [A/G] exm1068110 13 48523626 [A/C] NM_003850 SUCLA2 EXON Missense_R407L exm1068116 13 48528384 [T/C] NM_003850 SUCLA2 EXON Missense_D333G exm1068124 13 48528684 [T/C] NM_003850 SUCLA2 EXON Missense_M271V exm1068136 13 48547445 [T/C] NM_003850 SUCLA2 EXON Missense_E206G exm1068147 13 48570993 [T/C] NM_003850 SUCLA2 EXON Missense_I86V exm1068154 13 48571139 [A/C] NM_003850 SUCLA2 EXON Missense_L37W exm1068158 13 48575357 [G/C] NM_003850 SUCLA2 EXON Missense_R17G exm1068160 13 48575369 [T/C] NM_003850 SUCLA2 EXON Missense_V13M exm1797597 13 48611934 [A/G] NM_018283 NUDT15 EXON Missense_V18I exm1068178 13 48615067 [A/G] NM_018283 NUDT15 EXON Missense_E57G exm1068183 13 48619855 [T/C] NM_018283 NUDT15 EXON Missense_R139C exm1068184 13 48619856 [A/G] NM_018283 NUDT15 EXON Missense_R139H exm1068185 13 48619907 [A/T] NM_018283 NUDT15 EXON Missense_L156Q exm1068190 13 48651329 [T/A] NM_001270629,NM_014166,NR_046511 MED4,MED4,MED4-AS1 EXON Missense_D207E,Missense_D253E,Silent exm1068212 13 48660485 [T/G] NM_001270629,NM_014166 MED4,MED4 EXON Missense_E53A,Missense_E99A exm1068213 13 48660535 [A/C] NM_001270629,NM_014166 MED4,MED4 EXON Missense_L36F,Missense_L82F exm1068216 13 48664497 [G/C] NM_001270629,NM_014166 MED4,MED4 EXON Missense_E15D,Missense_E61D exm1068217 13 48664499 [T/C] NM_001270629,NM_014166 MED4,MED4 EXON Missense_E15K,Missense_E61K exm-IND13-47565698 13 48667698 [I/D] NM_001270629,NM_014166 MED4,MED4 exm1068225 13 48669181 [C/G] NM_001270629,NM_014166 MED4,MED4 EXON Silent,Missense_E12Q exm-rs1571256 13 48671081 [A/G] exm1068238 13 48807588 [A/C] NM_021999 ITM2B EXON Missense_P31H exm1068243 13 48830319 [A/G] NM_021999 ITM2B EXON Missense_D85N exm1068258 13 48835310 [A/G] NM_021999 ITM2B EXON Missense_I251V exm1068269 13 48916837 [A/G] NM_000321 RB1 EXON Missense_N123D exm1068273 13 48919246 [T/A] NM_000321 RB1 EXON Missense_E137D exm1068284 13 48936963 [T/C] NM_000321 RB1 EXON Missense_I244T exm1068290 13 48939088 [T/C] NM_000321 RB1 EXON Missense_T307I exm1068291 13 48939097 [A/G] NM_000321 RB1 EXON Missense_G310E exm1068296 13 48947542 [T/A] NM_000321 RB1 EXON Missense_T377S exm1068313 13 48955458 [C/G] NM_000321 RB1 EXON Missense_A525G exm1068322 13 48985639 [A/C] NM_000321,NM_001162498,NM_005767,NM_001162497 RB1,LPAR6,LPAR6,LPAR6 EXON Silent,Missense_W307C,Missense_W307C,Missense_W307C exm1068329 13 48985802 [G/C] NM_000321,NM_001162498,NM_005767,NM_001162497 RB1,LPAR6,LPAR6,LPAR6 EXON Silent,Missense_S253C,Missense_S253C,Missense_S253C exm1068330 13 48985925 [G/C] NM_000321,NM_001162498,NM_005767,NM_001162497 RB1,LPAR6,LPAR6,LPAR6 EXON Silent,Missense_T212S,Missense_T212S,Missense_T212S exm1068339 13 48986228 [G/C] NM_000321,NM_001162498,NM_005767,NM_001162497 RB1,LPAR6,LPAR6,LPAR6 EXON Silent,Missense_S111T,Missense_S111T,Missense_S111T exm1068347 13 48986450 [A/G] NM_000321,NM_001162498,NM_005767,NM_001162497 RB1,LPAR6,LPAR6,LPAR6 EXON Silent,Missense_V37A,Missense_V37A,Missense_V37A exm1068368 13 49033829 [T/C] NM_000321 RB1 EXON Missense_R656W exm1068369 13 49033835 [A/G] NM_000321 RB1 EXON Missense_A658T exm1068372 13 49033954 [C/G] NM_000321 RB1 EXON Missense_D697E exm1797679 13 49039407 [T/C] NM_000321 RB1 EXON Missense_R798W exm1068386 13 49050882 [A/G] NM_000321 RB1 EXON Missense_D856N exm1068387 13 49050886 [A/G] NM_000321 RB1 EXON Missense_R857H exm1068412 13 49073796 [A/G] NM_001268 RCBTB2 EXON Missense_Y449H exm1068419 13 49076863 [T/C] NM_001268 RCBTB2 EXON Missense_V372M exm1068421 13 49076880 [A/G] NM_001268 RCBTB2 EXON Missense_T366M exm1068422 13 49076884 [T/C] NM_001268 RCBTB2 EXON Missense_V365I exm1068435 13 49084798 [A/G] NM_001268 RCBTB2 EXON Missense_S298F exm1068437 13 49084801 [T/G] NM_001268 RCBTB2 EXON Missense_Q297P exm1068441 13 49084892 [T/C] NM_001268 RCBTB2 EXON Missense_A267T exm1068449 13 49085967 [T/C] NM_001268 RCBTB2 EXON Missense_N241S exm1068476 13 49089877 [G/C] NM_001268 RCBTB2 EXON Missense_P15A exm1068481 13 49096056 [A/G] NM_001268 RCBTB2 EXON Missense_L7P exm2272011 13 49138910 [T/C] exm1068486 13 49281068 [G/C] NM_020377 CYSLTR2 EXON Missense_E39Q exm1068488 13 49281101 [T/G] NM_020377 CYSLTR2 EXON Missense_F50V exm1068490 13 49281152 [T/C] NM_020377 CYSLTR2 EXON Missense_Y67H exm1068492 13 49281222 [T/C] NM_020377 CYSLTR2 EXON Missense_T90M exm1068496 13 49281261 [A/G] NM_020377 CYSLTR2 EXON Missense_N103S exm1068499 13 49281386 [T/C] NM_020377 CYSLTR2 EXON Missense_R145W exm1068501 13 49281414 [A/G] NM_020377 CYSLTR2 EXON Missense_S154N exm1068506 13 49281554 [A/G] NM_020377 CYSLTR2 EXON Missense_M201V exm1068507 13 49281612 [A/G] NM_020377 CYSLTR2 EXON Missense_C220Y exm1068508 13 49281660 [T/C] NM_020377 CYSLTR2 EXON Missense_S236L exm1068509 13 49281668 [T/C] NM_020377 CYSLTR2 EXON Missense_R239W exm1068510 13 49281679 [C/G] NM_020377 CYSLTR2 EXON Missense_H242Q exm1068513 13 49281741 [A/G] NM_020377 CYSLTR2 EXON Missense_Y263C exm1068517 13 49281768 [T/C] NM_020377 CYSLTR2 EXON Missense_T272M exm1068520 13 49281785 [T/A] NM_020377 CYSLTR2 EXON Missense_L278I exm2221733 13 49281796 [C/G] NM_020377 CYSLTR2 EXON Missense_D281E exm1068528 13 49281897 [A/G] NM_020377 CYSLTR2 EXON Missense_R315K exm1068530 13 49580378 [A/G] NM_001079673 FNDC3A EXON Missense_I18V exm1068545 13 49705339 [A/G] NM_001079673,NM_014923 FNDC3A,FNDC3A EXON Missense_S107G,Missense_S51G exm2251470 13 49710673 [A/G] NM_001079673,NM_014923 FNDC3A,FNDC3A EXON Synonymous_T232T,Synonymous_T176T exm1068576 13 49742856 [A/G] NM_001079673,NM_014923 FNDC3A,FNDC3A EXON Missense_R382Q,Missense_R326Q exm1068585 13 49749579 [A/G] NM_001079673,NM_014923 FNDC3A,FNDC3A EXON Missense_A478T,Missense_A422T exm1797760 13 49749603 [C/G] NM_001079673,NM_014923 FNDC3A,FNDC3A EXON Missense_Q486E,Missense_Q430E exm1068613 13 49765482 [A/C] NM_001079673,NM_014923 FNDC3A,FNDC3A EXON Missense_T730P,Missense_T674P exm1068624 13 49771925 [A/G] NM_001079673,NM_014923 FNDC3A,FNDC3A EXON Missense_S802N,Missense_S746N exm1068649 13 49775997 [A/G] NM_001079673,NM_014923 FNDC3A,FNDC3A EXON Missense_T1017A,Missense_T961A exm1068652 13 49776070 [G/C] NM_001079673,NM_014923 FNDC3A,FNDC3A EXON Missense_T1041S,Missense_T985S exm1068659 13 49781232 [A/G] NM_001079673,NM_014923 FNDC3A,FNDC3A EXON Missense_D1100N,Missense_D1044N exm2251471 13 49794779 [A/G] NM_001507 MLNR EXON Synonymous_R102R exm1797798 13 49795272 [T/C] NM_001507 MLNR EXON Missense_Y267H exm1068716 13 49796362 [A/G] NM_001507 MLNR EXON Missense_R363K exm1068722 13 49796481 [A/G] NM_001507 MLNR EXON Missense_E403K exm1068729 13 49823034 [A/G] NR_036439,NM_001193478,NM_030911 CDADC1,CDADC1,CDADC1 EXON Silent,Missense_N37S,Missense_N37S exm1068731 13 49830000 [A/C] NR_036439,NM_001193478,NM_030911 CDADC1,CDADC1,CDADC1 EXON Silent,Missense_P68H,Missense_P68H exm1068746 13 49841707 [A/G] NR_036439,NM_001193478,NM_030911 CDADC1,CDADC1,CDADC1 EXON Silent,Missense_K171R,Missense_K171R exm1068751 13 49841814 [T/G] NR_036439,NM_001193478,NM_030911 CDADC1,CDADC1,CDADC1 EXON Silent,Missense_S207A,Missense_S207A exm1068760 13 49842094 [A/G] NR_036439,NM_001193478,NM_030911 CDADC1,CDADC1,CDADC1 EXON Silent,Missense_R300H,Missense_R300H exm1068761 13 49842097 [A/G] NR_036439,NM_001193478,NM_030911 CDADC1,CDADC1,CDADC1 EXON Silent,Missense_S301N,Missense_S301N exm1068785 13 49885009 [T/C] NM_001079670,NM_030925 CAB39L,CAB39L EXON Missense_A319T,Missense_A319T exm1068790 13 49885037 [T/G] NM_001079670,NM_030925 CAB39L,CAB39L EXON Missense_Q309H,Missense_Q309H exm1068791 13 49885059 [A/G] NM_001079670,NM_030925 CAB39L,CAB39L EXON Missense_I302T,Missense_I302T exm1068798 13 49906202 [A/G] NM_001079670,NM_030925 CAB39L,CAB39L EXON Missense_R239C,Missense_R239C exm1068802 13 49913856 [T/A] NM_001079670,NM_030925 CAB39L,CAB39L EXON Nonsense_L216X,Nonsense_L216X exm1797841 13 49924972 [T/C] NM_001079670,NM_030925 CAB39L,CAB39L EXON Missense_I158V,Missense_I158V exm1068813 13 49925022 [T/C] NM_001079670,NM_030925 CAB39L,CAB39L EXON Missense_R141H,Missense_R141H exm1068815 13 49933907 [A/C] NM_001079670,NM_030925 CAB39L,CAB39L EXON Missense_S113I,Missense_S113I exm2267520 13 50033188 [A/G] NM_031915,NM_001160308 SETDB2,SETDB2 Silent,Silent exm1068843 13 50050620 [A/G] NM_031915,NM_001160308 SETDB2,SETDB2 EXON Missense_E117G,Missense_E105G exm1068846 13 50050659 [T/A] NM_031915,NM_001160308 SETDB2,SETDB2 EXON Missense_D130V,Missense_D118V exm1068862 13 50051040 [A/T] NM_031915,NM_001160308 SETDB2,SETDB2 EXON Missense_F257Y,Missense_F245Y exm1068871 13 50056903 [A/T] NM_031915,NM_001160308 SETDB2,SETDB2 EXON Missense_K408I,Missense_K396I exm1068873 13 50056926 [A/G] NM_031915,NM_001160308 SETDB2,SETDB2 EXON Missense_G416R,Missense_G404R exm1068876 13 50057002 [T/C] NM_031915,NM_001160308 SETDB2,SETDB2 EXON Missense_V441A,Missense_V429A exm1068878 13 50057043 [A/G] NM_031915,NM_001160308 SETDB2,SETDB2 EXON Missense_A455T,Missense_A443T exm1068880 13 50057097 [A/G] NM_031915,NM_001160308 SETDB2,SETDB2 EXON Missense_V473M,Missense_V461M exm1068885 13 50059824 [A/G] NM_031915,NM_001160308 SETDB2,SETDB2 EXON Missense_R526Q,Missense_R514Q exm1068888 13 50062489 [T/C] NM_031915,NM_001160308 SETDB2,SETDB2 EXON Missense_I559T,Missense_I547T exm1068908 13 50080827 [T/G] NM_001040443,NM_001040444 PHF11,PHF11 EXON Missense_D51Y,Missense_D12Y exm-rs2031532 13 50080847 [A/G] NM_001040443,NM_001040444 PHF11,PHF11 EXON Synonymous_L57L,Synonymous_L18L exm1068923 13 50095059 [T/C] NM_001040443,NM_001040444 PHF11,PHF11 EXON Missense_P163L,Missense_P124L exm1068943 13 50100537 [A/G] NM_001040443,NM_001040444 PHF11,PHF11 EXON Missense_G262R,Missense_G223R exm1068953 13 50102794 [A/C] NM_001040443,NM_001040444 PHF11,PHF11 EXON Missense_S330Y,Missense_S291Y exm1068960 13 50108364 [T/C] NM_018191 RCBTB1 EXON Missense_N497S exm1068979 13 50118998 [T/C] NM_018191 RCBTB1 EXON Synonymous_E349E exm2272012 13 50127719 [T/C] NM_018191 RCBTB1 Silent exm1069022 13 50129660 [C/G] NM_018191 RCBTB1 EXON Missense_D198E exm1069028 13 50134077 [T/C] NM_018191 RCBTB1 EXON Missense_M141V exm1069039 13 50140824 [T/G] NM_018191 RCBTB1 EXON Missense_E69D exm1069048 13 50141345 [A/G] NM_018191 RCBTB1 EXON Missense_A24V exm1069049 13 50141351 [T/C] NM_018191 RCBTB1 EXON Missense_R22Q exm1069053 13 50204594 [T/A] NM_138450 ARL11 EXON Missense_V4E exm1069055 13 50204648 [T/C] NM_138450 ARL11 EXON Missense_S22L exm1069064 13 50204773 [A/G] NM_138450 ARL11 EXON Missense_V64I exm1069076 13 50204975 [T/C] NM_138450 ARL11 EXON Missense_P131L exm1069078 13 50205025 [T/C] NM_138450 ARL11 EXON Missense_C148R exm1069081 13 50205073 [A/G] NM_138450 ARL11 EXON Missense_E164K exm1797931 13 50205131 [A/C] NM_138450 ARL11 EXON Missense_A183E exm1069084 13 50205139 [T/C] NM_138450 ARL11 EXON Missense_H186Y exm1069088 13 50205165 [C/G] NM_138450 ARL11 EXON Missense_K194N exm1069094 13 50235186 [A/G] NM_032565 EBPL EXON Missense_P180L exm1069105 13 50243919 [A/C] NM_032565 EBPL EXON Missense_S79A exm1069117 13 50265553 [A/G] NM_032565 EBPL EXON Missense_A3V exm1069118 13 50265556 [A/C] NM_032565 EBPL EXON Missense_G2V exm1797955 13 50279776 [A/T] NM_002267 KPNA3 EXON Missense_E451D exm1069125 13 50279865 [A/C] NM_002267 KPNA3 EXON Missense_V422L exm1069127 13 50280427 [A/T] NM_002267 KPNA3 EXON Missense_M372L exm1069146 13 50306528 [T/C] NM_002267 KPNA3 EXON Missense_K121R exm2271937 13 50409275 [T/C] exm2221751 13 50586405 [T/G] NR_002612,NM_052811,NM_005798,NM_213590,NM_001007278 DLEU2,TRIM13,TRIM13,TRIM13,TRIM13 EXON Silent,Missense_M110R,Missense_M110R,Missense_M110R,Missense_M113R exm1069259 13 50586897 [A/C] NR_002612,NM_052811,NM_005798,NM_213590,NM_001007278 DLEU2,TRIM13,TRIM13,TRIM13,TRIM13 EXON Silent,Missense_A274E,Missense_A274E,Missense_A274E,Missense_A277E exm2274658 13 50587110 [T/C] NR_002612,NM_052811,NM_005798,NM_213590,NM_001007278 DLEU2,TRIM13,TRIM13,TRIM13,TRIM13 EXON Silent,Missense_A345V,Missense_A345V,Missense_A345V,Missense_A348V exm1069269 13 50587140 [G/C] NR_002612,NM_052811,NM_005798,NM_213590,NM_001007278 DLEU2,TRIM13,TRIM13,TRIM13,TRIM13 EXON Silent,Missense_S355T,Missense_S355T,Missense_S355T,Missense_S358T exm2221753 13 50587260 [A/G] NR_002612,NM_052811,NM_005798,NM_213590,NM_001007278 DLEU2,TRIM13,TRIM13,TRIM13,TRIM13 EXON Silent,Missense_N395S,Missense_N395S,Missense_N395S,Missense_N398S exm1069276 13 50587292 [G/C] NR_002612,NM_052811,NM_005798,NM_213590,NM_001007278 DLEU2,TRIM13,TRIM13,TRIM13,TRIM13 EXON Silent,Missense_L406V,Missense_L406V,Missense_L406V,Missense_L409V exm1069280 13 50589630 [A/G] NR_002612,NM_052811,NM_005798,NM_213590,NM_001007278,NM_173605,NM_199464 DLEU2,TRIM13,TRIM13,TRIM13,TRIM13,KCNRG,KCNRG EXON Silent,Silent,Silent,Silent,Silent,Missense_M1V,Missense_M1V exm1069282 13 50589718 [A/G] NR_002612,NM_052811,NM_005798,NM_213590,NM_001007278,NM_173605,NM_199464 DLEU2,TRIM13,TRIM13,TRIM13,TRIM13,KCNRG,KCNRG EXON Silent,Silent,Silent,Silent,Silent,Missense_R30H,Missense_R30H exm1069284 13 50589768 [A/G] NR_002612,NM_052811,NM_005798,NM_213590,NM_001007278,NM_173605,NM_199464 DLEU2,TRIM13,TRIM13,TRIM13,TRIM13,KCNRG,KCNRG EXON Silent,Silent,Silent,Silent,Silent,Missense_G47S,Missense_G47S exm1069286 13 50589837 [G/C] NR_002612,NM_052811,NM_005798,NM_213590,NM_001007278,NM_173605,NM_199464 DLEU2,TRIM13,TRIM13,TRIM13,TRIM13,KCNRG,KCNRG EXON Silent,Silent,Silent,Silent,Silent,Missense_L70V,Missense_L70V exm1069291 13 50589978 [T/C] NR_002612,NM_052811,NM_005798,NM_213590,NM_001007278,NM_173605,NM_199464 DLEU2,TRIM13,TRIM13,TRIM13,TRIM13,KCNRG,KCNRG EXON Silent,Silent,Silent,Silent,Silent,Missense_R117W,Missense_R117W exm1069304 13 50594390 [A/G] NR_002612,NM_173605,NM_199464 DLEU2,KCNRG,KCNRG EXON Silent,Missense_G207R,Silent exm1069311 13 50594529 [T/C] NR_002612,NM_173605,NM_199464 DLEU2,KCNRG,KCNRG EXON Silent,Missense_T253M,Silent exm1798011 13 50594532 [A/G] NR_002612,NM_173605,NM_199464 DLEU2,KCNRG,KCNRG EXON Silent,Missense_N254S,Silent exm1069313 13 50594584 [T/G] NR_002612,NM_173605,NM_199464 DLEU2,KCNRG,KCNRG EXON Silent,Missense_K271N,Silent exm-rs2762051 13 50835715 [T/C] exm-rs2066674 13 50842259 [A/G] exm-rs3118905 13 51105334 [A/G] exm-rs1239947 13 51106555 [T/C] exm-rs3116602 13 51111355 [T/G] exm-rs3118914 13 51116901 [T/G] exm2267521 13 51133655 [A/G] exm-rs797486 13 51221618 [A/C] exm2267601 13 51272084 [A/G] exm2267522 13 51287814 [A/G] NM_198989 DLEU7 Silent exm1069333 13 51417377 [A/G] NM_198989,NR_046551 DLEU7,DLEU7-AS1 EXON Nonsense_Q136X,Silent exm1069338 13 51417535 [A/G] NM_198989,NR_046551 DLEU7,DLEU7-AS1 EXON Missense_A83V,Silent exm1069359 13 51503677 [A/G] NM_001142279,NM_024570 RNASEH2B,RNASEH2B EXON Missense_E68G,Missense_E68G exm1069363 13 51517475 [A/G] NM_001142279,NM_024570 RNASEH2B,RNASEH2B EXON Missense_N152S,Missense_N152S exm1069366 13 51519575 [A/G] NM_001142279,NM_024570 RNASEH2B,RNASEH2B EXON Missense_V175M,Missense_V175M exm1069367 13 51519581 [A/G] NM_001142279,NM_024570 RNASEH2B,RNASEH2B EXON Missense_A177T,Missense_A177T exm1069380 13 51528086 [A/G] NM_001142279,NM_024570 RNASEH2B,RNASEH2B EXON Silent,Missense_T263A exm1069384 13 51530501 [A/G] NM_001142279,NM_024570 RNASEH2B,RNASEH2B EXON Silent,Missense_S277N exm1069385 13 51530530 [T/G] NM_001142279,NM_024570 RNASEH2B,RNASEH2B EXON Silent,Missense_A287S exm1069386 13 51530539 [A/G] NM_001142279,NM_024570 RNASEH2B,RNASEH2B EXON Silent,Missense_D290N exm2260216 13 51682014 [T/C] exm2221754 13 51819493 [A/G] NM_001242312,NM_145019 FAM124A,FAM124A EXON Silent,Missense_C49Y exm1069459 13 51825750 [A/G] NM_001242312,NM_145019 FAM124A,FAM124A EXON Missense_E83K,Missense_E119K exm1069468 13 51826038 [T/C] NM_001242312,NM_145019 FAM124A,FAM124A EXON Missense_R179C,Missense_R215C exm1069469 13 51826044 [G/C] NM_001242312,NM_145019 FAM124A,FAM124A EXON Missense_D181H,Missense_D217H exm1069470 13 51826059 [A/G] NM_001242312,NM_145019 FAM124A,FAM124A EXON Missense_S186G,Missense_S222G exm1069474 13 51826156 [T/C] NM_001242312,NM_145019 FAM124A,FAM124A EXON Missense_I218T,Missense_I254T exm1069481 13 51854595 [A/G] NM_001242312,NM_145019 FAM124A,FAM124A EXON Missense_V282M,Missense_V318M exm1069485 13 51854668 [T/C] NM_001242312,NM_145019 FAM124A,FAM124A EXON Missense_P306L,Missense_P342L exm1069490 13 51854854 [T/C] NM_001242312,NM_145019 FAM124A,FAM124A EXON Missense_T368M,Missense_T404M exm1069497 13 51855006 [T/C] NM_001242312,NM_145019 FAM124A,FAM124A EXON Missense_R419W,Missense_R455W exm1069498 13 51855007 [A/G] NM_001242312,NM_145019 FAM124A,FAM124A EXON Missense_R419Q,Missense_R455Q exm1069503 13 51855043 [A/G] NM_001242312,NM_145019 FAM124A,FAM124A EXON Missense_Y431C,Missense_Y467C exm1069512 13 51855114 [T/G] NM_001242312,NM_145019 FAM124A,FAM124A EXON Missense_A455S,Missense_A491S exm1069516 13 51855271 [T/C] NM_001242312,NM_145019 FAM124A,FAM124A EXON Missense_T507I,Missense_T543I exm1069518 13 51855286 [A/G] NM_001242312,NM_145019 FAM124A,FAM124A EXON Missense_Q512R,Missense_Q548R exm2271938 13 51907078 [T/C] exm1069538 13 51915440 [A/C] NM_001101320 SERPINE3 EXON Missense_S71R exm1069542 13 51918458 [A/G] NM_001101320 SERPINE3 EXON Missense_M109I exm1069546 13 51918558 [A/G] NM_001101320 SERPINE3 EXON Missense_D143N exm1069549 13 51921162 [T/C] NM_001101320 SERPINE3 EXON Synonymous_G164G exm1069554 13 51921235 [C/G] NM_001101320 SERPINE3 EXON Missense_V189L exm1069559 13 51921337 [A/C] NM_001101320 SERPINE3 EXON Missense_P223T exm1069564 13 51935459 [T/C] NM_001101320 SERPINE3 EXON Missense_I349T exm1069565 13 51935474 [A/G] NM_001101320 SERPINE3 EXON Missense_E354G exm1069583 13 51943306 [T/C] NM_012141,NM_001039937 INTS6,INTS6 EXON Missense_T749A,Missense_T736A exm1069584 13 51943320 [A/G] NM_012141,NM_001039937 INTS6,INTS6 EXON Missense_L744S,Missense_L731S exm1798080 13 51943338 [C/G] NM_012141,NM_001039937 INTS6,INTS6 EXON Missense_A738G,Missense_A725G exm1069598 13 51950198 [T/C] NM_012141,NM_001039937 INTS6,INTS6 EXON Missense_K572R,Missense_K559R exm1069608 13 51952535 [T/C] NM_012141,NM_001039937 INTS6,INTS6 EXON Missense_E481G,Missense_E468G exm1069624 13 51963579 [C/G] NM_012141,NM_001039937 INTS6,INTS6 EXON Synonymous_G205G,Synonymous_G192G exm1069626 13 51969476 [T/A] NM_012141,NM_001039937 INTS6,INTS6 EXON Missense_L191F,Missense_L178F exm2251477 13 52025263 [A/G] NM_012141,NM_001039937,NM_001039938 INTS6,INTS6,INTS6 EXON Synonymous_N79N,Synonymous_N66N,Synonymous_N79N exm1069649 13 52234780 [G/C] NM_052950 WDFY2 EXON Missense_S62R exm1069651 13 52249324 [G/C] NM_052950 WDFY2 EXON Missense_S75C exm1069657 13 52293352 [T/C] NM_052950 WDFY2 EXON Missense_T118M exm1069663 13 52301830 [T/C] NM_052950 WDFY2 EXON Missense_R168W exm1069665 13 52301909 [G/C] NM_052950 WDFY2 EXON Missense_T194R exm1069668 13 52313196 [A/G] NM_052950 WDFY2 EXON Missense_A204T exm1069672 13 52313253 [A/G] NM_052950 WDFY2 EXON Missense_V223I exm1069679 13 52325542 [C/G] NM_052950 WDFY2 EXON Missense_E274D exm1069690 13 52332329 [T/C] NM_052950 WDFY2 EXON Missense_R356C exm1069707 13 52343391 [T/C] NM_024705,NM_001270424 DHRS12,DHRS12 EXON Missense_G200R,Missense_G249R exm1069708 13 52343402 [T/G] NM_024705,NM_001270424 DHRS12,DHRS12 EXON Missense_H196P,Missense_H245P exm1069713 13 52345460 [A/G] NM_024705,NM_001270424,NM_001031719 DHRS12,DHRS12,DHRS12 EXON Silent,Silent,Missense_P244L exm1069733 13 52348164 [T/C] NM_024705,NM_001270424,NM_001031719 DHRS12,DHRS12,DHRS12 EXON Missense_V124I,Missense_V173I,Missense_V124I exm1069738 13 52364212 [T/C] NM_024705,NM_001270424,NM_001031719 DHRS12,DHRS12,DHRS12 EXON Missense_C79Y,Missense_C128Y,Missense_C79Y exm2221763 13 52365323 [T/C] NM_024705,NM_001270424,NM_001031719 DHRS12,DHRS12,DHRS12 EXON Missense_Q66R,Missense_Q115R,Missense_Q66R exm1069741 13 52365354 [T/G] NM_024705,NM_001270424,NM_001031719 DHRS12,DHRS12,DHRS12 EXON Missense_Q56K,Missense_Q105K,Missense_Q56K exm1069756 13 52439534 [A/G] NM_031290 CCDC70 EXON Missense_R7Q exm1069759 13 52439563 [G/C] NM_031290 CCDC70 EXON Missense_V17L exm1069761 13 52439593 [T/C] NM_031290 CCDC70 EXON Missense_R27W exm1069766 13 52439623 [T/C] NM_031290 CCDC70 EXON Missense_R37C exm1069770 13 52439662 [C/G] NM_031290 CCDC70 EXON Missense_A50P exm1069772 13 52439731 [T/C] NM_031290 CCDC70 EXON Nonsense_R73X exm1069773 13 52439732 [A/G] NM_031290 CCDC70 EXON Missense_R73Q exm2251480 13 52439787 [A/G] NM_031290 CCDC70 EXON Synonymous_R91R exm1069777 13 52439787 [A/G] NM_031290 CCDC70 EXON Synonymous_R91R exm1069781 13 52439868 [G/C] NM_031290 CCDC70 EXON Missense_E118D exm1069782 13 52439890 [T/C] NM_031290 CCDC70 EXON Missense_R126C exm1069785 13 52439954 [A/G] NM_031290 CCDC70 EXON Missense_R147Q exm1069786 13 52439968 [A/G] NM_031290 CCDC70 EXON Missense_E152K exm1069795 13 52440130 [A/G] NM_031290 CCDC70 EXON Missense_I206V exm1798190 13 52440136 [A/G] NM_031290 CCDC70 EXON Missense_G208R exm1069802 13 52440184 [T/C] NM_031290 CCDC70 EXON Missense_R224C exm1069804 13 52440212 [T/C] NM_031290 CCDC70 EXON Missense_A233V exm1069813 13 52508989 [A/G] NM_001005918,NM_001243182,NM_000053 ATP7B,ATP7B,ATP7B EXON Missense_T1227M,Missense_T1323M,Missense_T1434M exm1069838 13 52511626 [T/C] NM_001005918,NM_001243182,NM_000053 ATP7B,ATP7B,ATP7B EXON Missense_V1090I,Missense_V1186I,Missense_V1297I exm1069839 13 52511629 [T/C] NM_001005918,NM_001243182,NM_000053 ATP7B,ATP7B,ATP7B EXON Missense_D1089N,Missense_D1185N,Missense_D1296N exm1069841 13 52511641 [T/C] NM_001005918,NM_001243182,NM_000053 ATP7B,ATP7B,ATP7B EXON Missense_I1085V,Missense_I1181V,Missense_I1292V exm1069845 13 52511719 [T/C] NM_001005918,NM_001243182,NM_000053 ATP7B,ATP7B,ATP7B EXON Missense_G1059R,Missense_G1155R,Missense_G1266R exm1069850 13 52513198 [T/C] NM_001005918,NM_001243182,NM_000053 ATP7B,ATP7B,ATP7B EXON Missense_I1023V,Missense_I1119V,Missense_I1230V exm1069854 13 52513266 [T/C] NM_001005918,NM_001243182,NM_000053 ATP7B,ATP7B,ATP7B EXON Missense_H1000R,Missense_H1096R,Missense_H1207R exm1069863 13 52515308 [A/C] NM_001005918,NM_001243182,NM_000053 ATP7B,ATP7B,ATP7B EXON Missense_R948S,Missense_R1044S,Missense_R1155S exm1069867 13 52515354 [A/G] NM_001005918,NM_001243182,NM_000053 ATP7B,ATP7B,ATP7B EXON Missense_V933A,Missense_V1029A,Missense_V1140A exm1069869 13 52516531 [T/C] NM_001005918,NM_001243182,NM_000053 ATP7B,ATP7B,ATP7B EXON Missense_A928T,Missense_A1024T,Missense_A1135T exm1069873 13 52516566 [A/G] NM_001005918,NM_001243182,NM_000053 ATP7B,ATP7B,ATP7B EXON Missense_P916L,Missense_P1012L,Missense_P1123L exm1069875 13 52516602 [T/C] NM_001005918,NM_001243182,NM_000053 ATP7B,ATP7B,ATP7B EXON Missense_G904D,Missense_G1000D,Missense_G1111D exm1069883 13 52518281 [T/G] NM_001005918,NM_001243182,NM_000053 ATP7B,ATP7B,ATP7B EXON Missense_H862Q,Missense_H958Q,Missense_H1069Q exm1069891 13 52518387 [T/C] NM_001005918,NM_001243182,NM_000053 ATP7B,ATP7B,ATP7B EXON Missense_H827R,Missense_H923R,Missense_H1034R exm1069901 13 52520502 [A/G] NM_001005918,NM_001243182,NM_000053 ATP7B,ATP7B,ATP7B EXON Missense_T786M,Missense_T882M,Missense_T993M exm1798230 13 52520505 [A/G] NM_001005918,NM_001243182,NM_000053 ATP7B,ATP7B,ATP7B EXON Missense_P785L,Missense_P881L,Missense_P992L exm1069906 13 52520550 [A/G] NM_001005918,NM_001243182,NM_000053 ATP7B,ATP7B,ATP7B EXON Missense_T770M,Missense_T866M,Missense_T977M exm1069907 13 52520559 [A/G] NM_001005918,NM_001243182,NM_000053 ATP7B,ATP7B,ATP7B EXON Missense_T767M,Missense_T863M,Missense_T974M exm1069913 13 52523808 [T/C] NM_001005918,NM_001243182,NM_000053 ATP7B,ATP7B,ATP7B EXON Silent,Missense_R841K,Missense_R952K exm1069923 13 52524268 [T/C] NM_001005918,NM_001243182,NM_000053 ATP7B,ATP7B,ATP7B EXON Missense_G707R,Missense_G758R,Missense_G869R exm1069928 13 52524488 [T/C] NM_001005918,NM_001243182,NM_000053 ATP7B,ATP7B,ATP7B EXON Missense_K670R,Missense_K721R,Missense_K832R exm1069936 13 52532466 [T/C] NM_001005918,NM_001243182,NM_000053 ATP7B,ATP7B,ATP7B EXON Silent,Nonsense_W668X,Nonsense_W779X exm1069950 13 52534410 [T/C] NM_001005918,NM_001243182,NM_000053 ATP7B,ATP7B,ATP7B EXON Silent,Missense_M554I,Missense_M665I exm1069951 13 52534412 [T/C] NM_001005918,NM_001243182,NM_000053 ATP7B,ATP7B,ATP7B EXON Silent,Missense_M554V,Missense_M665V exm1069955 13 52535985 [A/C] NM_001005918,NM_001243182,NM_000053 ATP7B,ATP7B,ATP7B EXON Silent,Missense_M534R,Missense_M645R exm1069956 13 52535997 [A/G] NM_001005918,NM_001243182,NM_000053 ATP7B,ATP7B,ATP7B EXON Silent,Missense_L530S,Missense_L641S exm1069958 13 52536009 [T/C] NM_001005918,NM_001243182,NM_000053 ATP7B,ATP7B,ATP7B EXON Silent,Missense_N526S,Missense_N637S exm1069972 13 52542600 [T/C] NM_001005918,NM_001243182,NM_000053 ATP7B,ATP7B,ATP7B EXON Missense_D563N,Missense_D452N,Missense_D563N exm1069978 13 52542666 [T/C] NM_001005918,NM_001243182,NM_000053 ATP7B,ATP7B,ATP7B EXON Missense_E541K,Missense_E430K,Missense_E541K exm1069982 13 52542732 [T/C] NM_001005918,NM_001243182,NM_000053 ATP7B,ATP7B,ATP7B EXON Missense_V519M,Missense_V408M,Missense_V519M exm1798255 13 52544745 [T/C] NM_001005918,NM_001243182,NM_000053 ATP7B,ATP7B,ATP7B EXON Missense_A476T,Missense_A365T,Missense_A476T exm1069988 13 52544796 [A/C] NM_001005918,NM_001243182,NM_000053 ATP7B,ATP7B,ATP7B EXON Missense_V459L,Missense_V348L,Missense_V459L exm1069989 13 52544805 [G/C] NM_001005918,NM_001243182,NM_000053 ATP7B,ATP7B,ATP7B EXON Missense_V456L,Missense_V345L,Missense_V456L exm1069992 13 52544880 [A/G] NM_001005918,NM_001243182,NM_000053 ATP7B,ATP7B,ATP7B EXON Missense_C431R,Missense_C320R,Missense_C431R exm1069995 13 52548140 [A/C] NM_001005918,NM_001243182,NM_000053 ATP7B,ATP7B,ATP7B EXON Missense_S406A,Missense_S295A,Missense_S406A exm1069996 13 52548158 [T/C] NM_001005918,NM_001243182,NM_000053 ATP7B,ATP7B,ATP7B EXON Missense_T400A,Missense_T289A,Missense_T400A exm1070008 13 52548320 [A/G] NM_001005918,NM_001243182,NM_000053 ATP7B,ATP7B,ATP7B EXON Missense_P346S,Silent,Missense_P346S exm1798270 13 52548662 [A/G] NM_001005918,NM_001243182,NM_000053 ATP7B,ATP7B,ATP7B EXON Missense_P232S,Missense_P232S,Missense_P232S exm1070015 13 52548686 [T/A] NM_001005918,NM_001243182,NM_000053 ATP7B,ATP7B,ATP7B EXON Missense_I224F,Missense_I224F,Missense_I224F exm1070017 13 52548728 [T/C] NM_001005918,NM_001243182,NM_000053 ATP7B,ATP7B,ATP7B EXON Missense_I210V,Missense_I210V,Missense_I210V exm1070019 13 52548806 [T/C] NM_001005918,NM_001243182,NM_000053 ATP7B,ATP7B,ATP7B EXON Missense_V184I,Missense_V184I,Missense_V184I exm1070021 13 52548911 [T/C] NM_001005918,NM_001243182,NM_000053 ATP7B,ATP7B,ATP7B EXON Missense_V149M,Missense_V149M,Missense_V149M exm1070023 13 52548990 [A/C] NM_001005918,NM_001243182,NM_000053 ATP7B,ATP7B,ATP7B EXON Missense_E122D,Missense_E122D,Missense_E122D exm2221766 13 52549004 [T/C] NM_001005918,NM_001243182,NM_000053 ATP7B,ATP7B,ATP7B EXON Missense_D118N,Missense_D118N,Missense_D118N exm1070025 13 52549009 [A/G] NM_001005918,NM_001243182,NM_000053 ATP7B,ATP7B,ATP7B EXON Missense_I116T,Missense_I116T,Missense_I116T exm1070032 13 52549130 [T/C] NM_001005918,NM_001243182,NM_000053 ATP7B,ATP7B,ATP7B EXON Missense_I76V,Missense_I76V,Missense_I76V exm1070034 13 52549234 [T/C] NM_001005918,NM_001243182,NM_000053 ATP7B,ATP7B,ATP7B EXON Missense_N41S,Missense_N41S,Missense_N41S exm1070038 13 52549258 [A/G] NM_001005918,NM_001243182,NM_000053 ATP7B,ATP7B,ATP7B EXON Missense_M33T,Missense_M33T,Missense_M33T exm1070051 13 52586598 [C/G] NR_036571,NM_001004127 ALG11,ALG11 EXON Silent,Missense_R15T exm1070067 13 52593260 [T/G] NR_036571,NM_001004127 ALG11,ALG11 EXON Silent,Missense_L86V exm1070070 13 52598189 [A/G] NR_036571,NM_001004127 ALG11,ALG11 EXON Silent,Missense_N108S exm1070073 13 52598272 [T/C] NR_036571,NM_001004127 ALG11,ALG11 EXON Silent,Missense_R136C exm1070074 13 52598273 [A/G] NR_036571,NM_001004127 ALG11,ALG11 EXON Silent,Missense_R136H exm1070085 13 52598668 [A/C] NR_036571,NM_001004127 ALG11,ALG11 EXON Silent,Missense_L268I exm1070098 13 52599026 [A/C] NR_036571,NM_001004127,NM_021645 ALG11,ALG11,UTP14C EXON Silent,Missense_E387A,Silent exm1070110 13 52602962 [A/G] NR_036571,NM_001004127,NM_021645 ALG11,ALG11,UTP14C EXON Silent,Silent,Missense_E8K exm2276296 13 52602998 [A/G] NR_036571,NM_001004127,NM_021645 ALG11,ALG11,UTP14C EXON Silent,Silent,Missense_D20N exm1070115 13 52603085 [A/G] NR_036571,NM_001004127,NM_021645 ALG11,ALG11,UTP14C EXON Silent,Silent,Missense_I49V exm1798308 13 52603112 [T/C] NR_036571,NM_001004127,NM_021645 ALG11,ALG11,UTP14C EXON Silent,Silent,Missense_R58W exm1070116 13 52603113 [A/G] NR_036571,NM_001004127,NM_021645 ALG11,ALG11,UTP14C EXON Silent,Silent,Missense_R58Q exm1070119 13 52603194 [T/G] NR_036571,NM_001004127,NM_021645 ALG11,ALG11,UTP14C EXON Silent,Silent,Missense_G85V exm1070121 13 52603241 [A/G] NR_036571,NM_001004127,NM_021645 ALG11,ALG11,UTP14C EXON Silent,Silent,Missense_T101A exm1070123 13 52603266 [T/A] NR_036571,NM_001004127,NM_021645 ALG11,ALG11,UTP14C EXON Silent,Silent,Missense_V109D exm1070128 13 52603448 [A/G] NR_036571,NM_001004127,NM_021645 ALG11,ALG11,UTP14C EXON Silent,Silent,Missense_I170V exm1070135 13 52603679 [A/G] NR_036571,NM_001004127,NM_021645 ALG11,ALG11,UTP14C EXON Silent,Silent,Missense_K247E exm1070140 13 52603838 [A/T] NM_021645 UTP14C EXON Missense_N300Y exm1070143 13 52603896 [A/G] NM_021645 UTP14C EXON Missense_R319H exm1070146 13 52603965 [A/G] NM_021645 UTP14C EXON Missense_S342N exm1070148 13 52604010 [A/C] NM_021645 UTP14C EXON Missense_P357H exm1070154 13 52604162 [A/G] NM_021645 UTP14C EXON Missense_E408K exm1070159 13 52604288 [A/G] NM_021645 UTP14C EXON Missense_S450G exm1070162 13 52604324 [T/C] NM_021645 UTP14C EXON Missense_S462P exm1070174 13 52604579 [T/C] NM_021645 UTP14C EXON Missense_P547S exm1070176 13 52604648 [A/G] NM_021645 UTP14C EXON Missense_V570M exm1070177 13 52604652 [C/G] NM_021645 UTP14C EXON Missense_R571T exm1070186 13 52604894 [A/G] NM_021645 UTP14C EXON Missense_A652T exm1070192 13 52605154 [C/G] NM_021645 UTP14C EXON Nonsense_Y738X exm1070194 13 52605203 [T/C] NM_021645 UTP14C EXON Nonsense_R755X exm1070195 13 52605216 [A/G] NM_021645 UTP14C EXON Missense_R759H exm1070199 13 52639588 [T/A] NM_199289 NEK5 EXON Missense_E694D exm1070200 13 52639595 [T/C] NM_199289 NEK5 EXON Missense_R692H exm1070201 13 52639596 [A/G] NM_199289 NEK5 EXON Missense_R692C exm1070202 13 52639602 [T/C] NM_199289 NEK5 EXON Missense_V690I exm1070215 13 52646153 [A/C] NM_199289 NEK5 EXON Missense_K617N exm1070217 13 52646203 [T/C] NM_199289 NEK5 EXON Missense_M601V exm1070223 13 52650273 [T/C] NM_199289 NEK5 EXON Missense_E552K exm1070224 13 52650279 [A/C] NM_199289 NEK5 EXON Missense_D550Y exm1070230 13 52657410 [C/G] NM_199289 NEK5 EXON Missense_E520Q exm1798338 13 52660451 [T/C] NM_199289 NEK5 EXON Missense_M481V exm1070236 13 52660472 [A/G] NM_199289 NEK5 EXON Missense_R474C exm1070244 13 52661583 [T/C] NM_199289 NEK5 EXON Missense_R428H exm1070253 13 52673904 [T/G] NM_199289 NEK5 EXON Missense_P334Q exm1070267 13 52676275 [T/G] NM_199289 NEK5 EXON Missense_K255Q exm1070272 13 52676340 [T/C] NM_199289 NEK5 EXON Missense_H233R exm1070274 13 52676361 [A/G] NM_199289 NEK5 EXON Missense_P226L exm1070275 13 52676424 [T/C] NM_199289 NEK5 EXON Missense_E205G exm1070281 13 52684475 [T/C] NM_199289 NEK5 Silent exm1070282 13 52684492 [T/C] NM_199289 NEK5 EXON Missense_A151T exm1070284 13 52684537 [A/G] NM_199289 NEK5 EXON Missense_L136F exm1070291 13 52686430 [A/G] NM_199289 NEK5 EXON Missense_R96W exm1798364 13 52693478 [A/G] NM_199289 NEK5 EXON Missense_V64A exm2267523 13 52700470 [A/G] NM_199289 NEK5 Silent exm1070311 13 52707832 [T/C] NM_152720,NR_027415,NM_001146099,NM_002498 NEK3,NEK3,NEK3,NEK3 EXON Missense_E477K,Silent,Missense_E460K,Missense_E477K exm1070312 13 52707835 [T/C] NM_152720,NR_027415,NM_001146099,NM_002498 NEK3,NEK3,NEK3,NEK3 EXON Missense_E476K,Silent,Missense_E459K,Missense_E476K exm1070315 13 52707880 [T/C] NM_152720,NR_027415,NM_001146099,NM_002498 NEK3,NEK3,NEK3,NEK3 EXON Missense_D461N,Silent,Missense_D444N,Missense_D461N exm1070319 13 52707924 [A/C] NM_152720,NR_027415,NM_001146099,NM_002498 NEK3,NEK3,NEK3,NEK3 EXON Missense_L446R,Silent,Missense_L429R,Missense_L446R exm1070330 13 52710327 [T/C] NM_152720,NR_027415,NM_001146099,NM_002498 NEK3,NEK3,NEK3,NEK3 EXON Missense_V367I,Silent,Missense_V350I,Missense_V367I exm1070332 13 52710344 [T/C] NM_152720,NR_027415,NM_001146099,NM_002498 NEK3,NEK3,NEK3,NEK3 EXON Missense_R361Q,Silent,Missense_R344Q,Missense_R361Q exm1070336 13 52715168 [T/A] NM_152720,NR_027415,NM_001146099,NM_002498 NEK3,NEK3,NEK3,NEK3 EXON Missense_E305D,Silent,Silent,Missense_E305D exm1070351 13 52718855 [G/C] NM_152720,NR_027415,NM_001146099,NM_002498 NEK3,NEK3,NEK3,NEK3 EXON Missense_R259G,Silent,Missense_R259G,Missense_R259G exm1070359 13 52722552 [T/G] NM_152720,NR_027415,NM_001146099,NM_002498 NEK3,NEK3,NEK3,NEK3 EXON Missense_P201T,Silent,Missense_P201T,Missense_P201T exm1070370 13 52726772 [T/C] NM_152720,NR_027415,NM_001146099,NM_002498 NEK3,NEK3,NEK3,NEK3 EXON Missense_R122H,Silent,Missense_R122H,Missense_R122H exm1070372 13 52726781 [T/C] NM_152720,NR_027415,NM_001146099,NM_002498 NEK3,NEK3,NEK3,NEK3 EXON Missense_H119R,Silent,Missense_H119R,Missense_H119R exm2221775 13 52728099 [T/G] NM_152720,NR_027415,NM_001146099,NM_002498 NEK3,NEK3,NEK3,NEK3 EXON Missense_E80D,Silent,Missense_E80D,Missense_E80D exm1070380 13 52730259 [A/T] NM_152720,NR_027415,NM_001146099,NM_002498 NEK3,NEK3,NEK3,NEK3 EXON Missense_H23L,Silent,Missense_H23L,Missense_H23L exm1070381 13 52730286 [A/G] NM_152720,NR_027415,NM_001146099,NM_002498 NEK3,NEK3,NEK3,NEK3 EXON Missense_S14F,Silent,Missense_S14F,Missense_S14F exm1070382 13 52730298 [A/G] NM_152720,NR_027415,NM_001146099,NM_002498 NEK3,NEK3,NEK3,NEK3 EXON Missense_I10T,Silent,Missense_I10T,Missense_I10T exm2272014 13 52930352 [T/G] exm1070391 13 52951802 [T/C] NM_018676,NM_199263 THSD1,THSD1 EXON Missense_K768R,Missense_K715R exm1798393 13 52951881 [C/G] NM_018676,NM_199263 THSD1,THSD1 EXON Missense_D742H,Missense_D689H exm1070397 13 52951934 [T/G] NM_018676,NM_199263 THSD1,THSD1 EXON Missense_P724H,Missense_P671H exm1070404 13 52952024 [A/C] NM_018676,NM_199263 THSD1,THSD1 EXON Missense_R694I,Missense_R641I exm1070418 13 52952306 [T/C] NM_018676,NM_199263 THSD1,THSD1 EXON Missense_G600E,Missense_G547E exm1798395 13 52952318 [A/G] NM_018676,NM_199263 THSD1,THSD1 EXON Missense_A596V,Missense_A543V exm1070425 13 52952363 [A/G] NM_018676,NM_199263 THSD1,THSD1 EXON Missense_A581V,Missense_A528V exm1070426 13 52952368 [T/A] NM_018676,NM_199263 THSD1,THSD1 EXON Missense_E579D,Missense_E526D exm2251483 13 52952497 [T/C] NM_018676,NM_199263 THSD1,THSD1 EXON Synonymous_Q536Q,Synonymous_Q483Q exm1070439 13 52952634 [C/G] NM_018676,NM_199263 THSD1,THSD1 EXON Missense_D491H,Missense_D438H exm1798398 13 52952690 [T/C] NM_018676,NM_199263 THSD1,THSD1 EXON Missense_S472N,Missense_S419N exm1070447 13 52952708 [T/C] NM_018676,NM_199263 THSD1,THSD1 EXON Missense_E466G,Missense_E413G exm1070455 13 52960220 [A/G] NM_018676,NM_199263 THSD1,THSD1 EXON Missense_P375S,Silent exm1070460 13 52971517 [T/C] NM_018676,NM_199263 THSD1,THSD1 EXON Missense_E291K,Missense_E291K exm1070467 13 52971687 [A/G] NM_018676,NM_199263 THSD1,THSD1 EXON Missense_I234T,Missense_I234T exm1070468 13 52971718 [C/G] NM_018676,NM_199263 THSD1,THSD1 EXON Missense_R224G,Missense_R224G exm1798408 13 52972050 [A/G] NM_018676,NM_199263 THSD1,THSD1 EXON Missense_P113L,Missense_P113L exm1070485 13 52976680 [T/C] NM_018676,NM_199263 THSD1,THSD1 EXON Missense_Y19C,Missense_Y19C exm1070488 13 52976816 [T/C] NM_018676,NM_199263 THSD1,THSD1 EXON Silent,Silent exm1070509 13 52997762 [T/C] NM_016075 VPS36 EXON Missense_I263V exm1070534 13 53013246 [T/C] NM_016075 VPS36 EXON Missense_G75R exm1070550 13 53030706 [T/C] NM_018204,NM_001098525 CKAP2,CKAP2 EXON Missense_L40P,Missense_L40P exm1070561 13 53035290 [A/G] NM_018204,NM_001098525 CKAP2,CKAP2 EXON Missense_N110S,Missense_N111S exm1070562 13 53035340 [A/C] NM_018204,NM_001098525 CKAP2,CKAP2 EXON Missense_P127T,Missense_P128T exm2276297 13 53035478 [C/G] NM_018204,NM_001098525 CKAP2,CKAP2 EXON Missense_P173A,Missense_P174A exm1070572 13 53035665 [A/T] NM_018204,NM_001098525 CKAP2,CKAP2 EXON Missense_M235K,Missense_M236K exm1070574 13 53035709 [T/C] NM_018204,NM_001098525 CKAP2,CKAP2 EXON Nonsense_Q250X,Nonsense_Q251X exm1070576 13 53035739 [T/C] NM_018204,NM_001098525 CKAP2,CKAP2 EXON Missense_H260Y,Missense_H261Y exm1070582 13 53035790 [A/G] NM_018204,NM_001098525 CKAP2,CKAP2 EXON Missense_N277D,Missense_N278D exm1070588 13 53035899 [T/C] NM_018204,NM_001098525 CKAP2,CKAP2 EXON Missense_L313P,Missense_L314P exm1070590 13 53035925 [A/G] NM_018204,NM_001098525 CKAP2,CKAP2 EXON Missense_I322V,Missense_I323V exm1070598 13 53036553 [A/G] NM_018204,NM_001098525 CKAP2,CKAP2 EXON Missense_N386D,Missense_N387D exm1070603 13 53039437 [T/C] NM_018204,NM_001098525 CKAP2,CKAP2 EXON Missense_P438L,Missense_P439L exm1070604 13 53039442 [A/G] NM_018204,NM_001098525 CKAP2,CKAP2 EXON Missense_E440K,Missense_E441K exm1798460 13 53039451 [C/G] NM_018204,NM_001098525 CKAP2,CKAP2 EXON Missense_L443V,Missense_L444V exm1070607 13 53039547 [T/C] NM_018204,NM_001098525 CKAP2,CKAP2 EXON Missense_P475S,Missense_P476S exm1070615 13 53042440 [A/G] NM_018204,NM_001098525 CKAP2,CKAP2 EXON Missense_V502I,Missense_V503I exm1070621 13 53047966 [A/G] NM_018204,NM_001098525 CKAP2,CKAP2 EXON Missense_E517K,Missense_E518K exm1798468 13 53048135 [T/C] NM_018204,NM_001098525 CKAP2,CKAP2 EXON Missense_T573I,Missense_T574I exm1070633 13 53049113 [A/G] NM_018204,NM_001098525 CKAP2,CKAP2 EXON Missense_R629H,Missense_R630H exm1070634 13 53049198 [C/G] NM_018204,NM_001098525 CKAP2,CKAP2 EXON Missense_L657F,Missense_L658F exm1070711 13 53240958 [T/G] NM_001130912,NM_006704 SUGT1,SUGT1 EXON Missense_L209F,Missense_L177F exm1070713 13 53241013 [A/G] NM_001130912,NM_006704 SUGT1,SUGT1 EXON Missense_I228V,Missense_I196V exm2251484 13 53250409 [A/G] NM_001130912,NM_006704 SUGT1,SUGT1 EXON Synonymous_K256K,Synonymous_K224K exm1070717 13 53250409 [A/G] NM_001130912,NM_006704 SUGT1,SUGT1 EXON Synonymous_K256K,Synonymous_K224K exm1070720 13 53250443 [G/C] NM_001130912,NM_006704 SUGT1,SUGT1 EXON Missense_Q268E,Missense_Q236E exm1070726 13 53254116 [T/G] NM_001130912,NM_006704 SUGT1,SUGT1 EXON Missense_K274N,Missense_K242N exm1070742 13 53277811 [A/T] NM_001011705,NM_007015 LECT1,LECT1 EXON Nonsense_Y307X,Nonsense_Y308X exm1070743 13 53277854 [T/G] NM_001011705,NM_007015 LECT1,LECT1 EXON Missense_Q293P,Missense_Q294P exm1070747 13 53277894 [T/G] NM_001011705,NM_007015 LECT1,LECT1 EXON Missense_I280L,Missense_I281L exm1070755 13 53282731 [A/C] NM_001011705,NM_007015 LECT1,LECT1 EXON Missense_N243K,Missense_N243K exm1070763 13 53286950 [T/C] NM_001011705,NM_007015 LECT1,LECT1 EXON Missense_V175I,Missense_V175I exm1070768 13 53298133 [T/A] NM_001011705,NM_007015 LECT1,LECT1 EXON Missense_L156Q,Missense_L156Q exm1070775 13 53298212 [T/G] NM_001011705,NM_007015 LECT1,LECT1 EXON Missense_K130Q,Missense_K130Q exm2221786 13 53307362 [A/G] NM_001011705,NM_007015 LECT1,LECT1 EXON Missense_F116L,Missense_F116L exm1070782 13 53313166 [G/C] NM_001011705,NM_007015 LECT1,LECT1 EXON Missense_H71Q,Missense_H71Q exm2267524 13 53401505 [A/G] exm1070804 13 53418747 [T/G] NM_032949,NM_002590 PCDH8,PCDH8 EXON Missense_S957Y,Missense_S1054Y exm1070810 13 53418940 [T/C] NM_032949,NM_002590 PCDH8,PCDH8 EXON Missense_S893G,Missense_S990G exm1070818 13 53419568 [A/G] NM_032949,NM_002590 PCDH8,PCDH8 EXON Missense_M847T,Missense_M944T exm1070819 13 53419605 [T/A] NM_032949,NM_002590 PCDH8,PCDH8 EXON Missense_S835C,Missense_S932C exm1070820 13 53419675 [T/G] NM_032949,NM_002590 PCDH8,PCDH8 EXON Missense_E811D,Missense_E908D exm1070833 13 53420234 [T/C] NM_032949,NM_002590 PCDH8,PCDH8 EXON Missense_E780K,Missense_E780K exm1070838 13 53420344 [A/G] NM_032949,NM_002590 PCDH8,PCDH8 EXON Missense_V743A,Missense_V743A exm1070846 13 53420483 [C/G] NM_032949,NM_002590 PCDH8,PCDH8 EXON Missense_R697G,Missense_R697G exm1070848 13 53420489 [T/C] NM_032949,NM_002590 PCDH8,PCDH8 EXON Missense_G695S,Missense_G695S exm1070864 13 53420850 [T/A] NM_032949,NM_002590 PCDH8,PCDH8 EXON Missense_Q574H,Missense_Q574H exm1070873 13 53421215 [A/C] NM_032949,NM_002590 PCDH8,PCDH8 EXON Missense_A453S,Missense_A453S exm1070902 13 53422337 [T/C] NM_032949,NM_002590 PCDH8,PCDH8 EXON Missense_G79S,Missense_G79S exm1070905 13 53422506 [C/G] NM_032949,NM_002590 PCDH8,PCDH8 EXON Missense_W22C,Missense_W22C exm1070908 13 53422553 [A/G] NM_032949,NM_002590 PCDH8,PCDH8 EXON Missense_W7R,Missense_W7R exm1070915 13 53602999 [T/G] NM_006418 OLFM4 EXON Missense_A10S exm1070917 13 53603035 [T/G] NM_006418 OLFM4 EXON Missense_L22V exm1070921 13 53603077 [T/C] NM_006418 OLFM4 EXON Missense_S36P exm1070931 13 53603162 [A/G] NM_006418 OLFM4 EXON Missense_G64D exm1070938 13 53608579 [T/C] NM_006418 OLFM4 EXON Missense_R101C exm1070941 13 53616051 [A/G] NM_006418 OLFM4 EXON Missense_E122K exm1070942 13 53616105 [T/C] NM_006418 OLFM4 EXON Nonsense_R140X exm1070943 13 53616126 [G/C] NM_006418 OLFM4 EXON Missense_D147H exm1070944 13 53616130 [C/G] NM_006418 OLFM4 EXON Missense_T148S exm1070948 13 53617309 [T/C] NM_006418 OLFM4 EXON Nonsense_R214X exm1070962 13 53624329 [A/G] NM_006418 OLFM4 EXON Missense_R319Q exm1798590 13 53624380 [A/C] NM_006418 OLFM4 EXON Missense_N336T exm1070966 13 53624412 [A/G] NM_006418 OLFM4 EXON Missense_N347D exm1070973 13 53624637 [T/A] NM_006418 OLFM4 EXON Missense_Y422N exm2267602 13 53711303 [A/G] exm2271940 13 53803308 [T/C] exm-rs10507577 13 53968091 [T/C] exm-rs12429545 13 54102206 [A/G] exm2264515 13 54175298 [A/C] exm-rs9536591 13 54581087 [A/C] exm2267525 13 54592856 [A/G] exm2260220 13 54638436 [A/C] exm2271941 13 55046791 [T/C] exm2272015 13 55147817 [T/C] exm2267526 13 55616633 [A/G] exm2251491 13 55818627 [T/C] exm-rs3105047 13 55937194 [A/C] exm2267527 13 56413159 [A/G] exm-rs1512651 13 56772696 [A/G] exm2264527 13 56863954 [A/C] exm2271943 13 57464113 [T/C] exm2267603 13 57664320 [A/G] exm-rs9527650 13 57962413 [A/G] exm2271944 13 58004699 [T/C] exm2267604 13 58158127 [A/G] exm1071020 13 58207348 [A/G] NM_001040429 PCDH17 EXON Missense_R223H exm1071024 13 58207446 [C/G] NM_001040429 PCDH17 EXON Missense_A256P exm1071034 13 58207689 [A/G] NM_001040429 PCDH17 EXON Missense_V337I exm1071036 13 58207711 [T/G] NM_001040429 PCDH17 EXON Missense_R344L exm1071084 13 58208879 [T/G] NM_001040429 PCDH17 EXON Missense_E733D exm1071092 13 58209108 [G/C] NM_001040429 PCDH17 EXON Missense_R810G exm1071107 13 58298782 [A/G] NM_001040429 PCDH17 EXON Missense_R945Q exm1071109 13 58298857 [A/G] NM_001040429 PCDH17 EXON Missense_R970H exm1071111 13 58298905 [G/C] NM_001040429 PCDH17 EXON Missense_T986S exm1071114 13 58298964 [T/C] NM_001040429 PCDH17 EXON Nonsense_R1006X exm1071126 13 58299377 [T/A] NM_001040429 PCDH17 EXON Missense_D1143E exm2267529 13 58331407 [A/G] exm2267530 13 58791487 [A/G] exm-rs10492604 13 58904313 [T/C] exm2267531 13 59214304 [A/G] exm2251499 13 59830919 [A/G] exm2260228 13 60106925 [T/C] exm1071133 13 60240830 [A/G] NM_001258368,NM_001258367,NM_001258366,NM_001042517 DIAPH3,DIAPH3,DIAPH3,DIAPH3 EXON Missense_A1087V,Missense_A1111V,Missense_A1146V,Missense_A1157V exm1071141 13 60348359 [T/C] NM_001258368,NM_001258367,NM_001258366,NM_001042517,NM_001258369,NM_030932 DIAPH3,DIAPH3,DIAPH3,DIAPH3,DIAPH3,DIAPH3 EXON Missense_M1025V,Missense_M1049V,Missense_M1084V,Missense_M1095V,Missense_M1095V,Missense_M832V exm1071147 13 60348894 [T/C] NM_001258368,NM_001258367,NM_001258366,NM_001042517,NM_001258369,NM_030932 DIAPH3,DIAPH3,DIAPH3,DIAPH3,DIAPH3,DIAPH3 EXON Missense_R1006H,Missense_R1030H,Missense_R1065H,Missense_R1076H,Missense_R1076H,Missense_R813H exm1071148 13 60348895 [A/G] NM_001258368,NM_001258367,NM_001258366,NM_001042517,NM_001258369,NM_030932 DIAPH3,DIAPH3,DIAPH3,DIAPH3,DIAPH3,DIAPH3 EXON Missense_R1006C,Missense_R1030C,Missense_R1065C,Missense_R1076C,Missense_R1076C,Missense_R813C exm1798946 13 60384943 [A/G] NM_001258368,NM_001258367,NM_001258366,NM_001042517,NM_001258369,NM_030932 DIAPH3,DIAPH3,DIAPH3,DIAPH3,DIAPH3,DIAPH3 EXON Missense_R978C,Missense_R1002C,Missense_R1037C,Missense_R1048C,Missense_R1048C,Missense_R785C exm1071152 13 60384960 [T/C] NM_001258368,NM_001258367,NM_001258366,NM_001042517,NM_001258369,NM_030932 DIAPH3,DIAPH3,DIAPH3,DIAPH3,DIAPH3,DIAPH3 EXON Missense_R972H,Missense_R996H,Missense_R1031H,Missense_R1042H,Missense_R1042H,Missense_R779H exm1071154 13 60385005 [T/C] NM_001258368,NM_001258367,NM_001258366,NM_001042517,NM_001258369,NM_030932 DIAPH3,DIAPH3,DIAPH3,DIAPH3,DIAPH3,DIAPH3 EXON Missense_R957H,Missense_R981H,Missense_R1016H,Missense_R1027H,Missense_R1027H,Missense_R764H exm1798960 13 60453581 [A/G] NM_001258368,NM_001258367,NM_001258366,NM_001042517,NM_001258369,NM_030932,NM_001258370 DIAPH3,DIAPH3,DIAPH3,DIAPH3,DIAPH3,DIAPH3,DIAPH3 EXON Missense_R727W,Missense_R751W,Missense_R786W,Missense_R797W,Missense_R797W,Missense_R534W,Missense_R534W exm2264516 13 60465417 [A/C] NM_001258368,NM_001258367,NM_001258366,NM_001042517,NM_001258369,NM_030932,NM_001258370 DIAPH3,DIAPH3,DIAPH3,DIAPH3,DIAPH3,DIAPH3,DIAPH3 Silent,Silent,Silent,Silent,Silent,Silent,Silent exm1071189 13 60485919 [A/G] NM_001258368,NM_001258367,NM_001258366,NM_001042517,NM_001258369,NM_030932,NM_001258370 DIAPH3,DIAPH3,DIAPH3,DIAPH3,DIAPH3,DIAPH3,DIAPH3 EXON Missense_F703L,Missense_F727L,Missense_F762L,Missense_F773L,Missense_F773L,Missense_F510L,Missense_F510L exm1071196 13 60498983 [A/G] NM_001258368,NM_001258367,NM_001258366,NM_001042517,NM_001258369,NM_030932,NM_001258370 DIAPH3,DIAPH3,DIAPH3,DIAPH3,DIAPH3,DIAPH3,DIAPH3 EXON Missense_I629T,Missense_I653T,Missense_I688T,Missense_I699T,Missense_I699T,Missense_I436T,Missense_I436T exm1071198 13 60544126 [T/C] NM_001258368,NM_001258367,NM_001258366,NM_001042517,NM_001258369,NM_030932,NM_001258370 DIAPH3,DIAPH3,DIAPH3,DIAPH3,DIAPH3,DIAPH3,DIAPH3 EXON Missense_V606M,Missense_V630M,Missense_V665M,Missense_V676M,Missense_V676M,Missense_V413M,Missense_V413M exm1071202 13 60545105 [T/G] NM_001258368,NM_001258367,NM_001258366,NM_001042517,NM_001258369,NM_030932,NM_001258370 DIAPH3,DIAPH3,DIAPH3,DIAPH3,DIAPH3,DIAPH3,DIAPH3 EXON Missense_P544T,Missense_P568T,Missense_P603T,Missense_P614T,Missense_P614T,Missense_P351T,Missense_P351T exm1071205 13 60545137 [T/C] NM_001258368,NM_001258367,NM_001258366,NM_001042517,NM_001258369,NM_030932,NM_001258370 DIAPH3,DIAPH3,DIAPH3,DIAPH3,DIAPH3,DIAPH3,DIAPH3 EXON Missense_R533Q,Missense_R557Q,Missense_R592Q,Missense_R603Q,Missense_R603Q,Missense_R340Q,Missense_R340Q exm1071206 13 60545158 [A/G] NM_001258368,NM_001258367,NM_001258366,NM_001042517,NM_001258369,NM_030932,NM_001258370 DIAPH3,DIAPH3,DIAPH3,DIAPH3,DIAPH3,DIAPH3,DIAPH3 EXON Missense_P526L,Missense_P550L,Missense_P585L,Missense_P596L,Missense_P596L,Missense_P333L,Missense_P333L exm1071213 13 60545212 [A/G] NM_001258368,NM_001258367,NM_001258366,NM_001042517,NM_001258369,NM_030932,NM_001258370 DIAPH3,DIAPH3,DIAPH3,DIAPH3,DIAPH3,DIAPH3,DIAPH3 EXON Missense_P508L,Missense_P532L,Missense_P567L,Missense_P578L,Missense_P578L,Missense_P315L,Missense_P315L exm1071216 13 60548565 [T/C] NM_001258368,NM_001258367,NM_001258366,NM_001042517,NM_001258369,NM_030932,NM_001258370 DIAPH3,DIAPH3,DIAPH3,DIAPH3,DIAPH3,DIAPH3,DIAPH3 EXON Missense_Q454R,Missense_Q478R,Missense_Q513R,Missense_Q524R,Missense_Q524R,Missense_Q261R,Missense_Q261R exm1071226 13 60565310 [C/G] NM_001258368,NM_001258367,NM_001258366,NM_001042517,NM_001258369,NM_030932,NM_001258370 DIAPH3,DIAPH3,DIAPH3,DIAPH3,DIAPH3,DIAPH3,DIAPH3 EXON Missense_R378P,Missense_R402P,Missense_R437P,Missense_R448P,Missense_R448P,Missense_R185P,Missense_R185P exm1071229 13 60565355 [A/G] NM_001258368,NM_001258367,NM_001258366,NM_001042517,NM_001258369,NM_030932,NM_001258370 DIAPH3,DIAPH3,DIAPH3,DIAPH3,DIAPH3,DIAPH3,DIAPH3 EXON Missense_A363V,Missense_A387V,Missense_A422V,Missense_A433V,Missense_A433V,Missense_A170V,Missense_A170V exm1071232 13 60566255 [T/A] NM_001258368,NM_001258367,NM_001258366,NM_001042517,NM_001258369,NM_030932,NM_001258370 DIAPH3,DIAPH3,DIAPH3,DIAPH3,DIAPH3,DIAPH3,DIAPH3 EXON Missense_E327D,Missense_E351D,Missense_E386D,Missense_E397D,Missense_E397D,Missense_E134D,Missense_E134D exm1071237 13 60566633 [A/G] NM_001258368,NM_001258367,NM_001258366,NM_001042517,NM_001258369,NM_030932,NM_001258370 DIAPH3,DIAPH3,DIAPH3,DIAPH3,DIAPH3,DIAPH3,DIAPH3 EXON Missense_R297C,Missense_R321C,Missense_R356C,Missense_R367C,Missense_R367C,Missense_R104C,Missense_R104C exm1071238 13 60566644 [T/C] NM_001258368,NM_001258367,NM_001258366,NM_001042517,NM_001258369,NM_030932,NM_001258370 DIAPH3,DIAPH3,DIAPH3,DIAPH3,DIAPH3,DIAPH3,DIAPH3 EXON Missense_N293S,Missense_N317S,Missense_N352S,Missense_N363S,Missense_N363S,Missense_N100S,Missense_N100S exm1071244 13 60582752 [T/C] NM_001258368,NM_001258367,NM_001258366,NM_001042517,NM_001258369,NM_030932,NM_001258370 DIAPH3,DIAPH3,DIAPH3,DIAPH3,DIAPH3,DIAPH3,DIAPH3 EXON Missense_A244T,Missense_A268T,Missense_A303T,Missense_A314T,Missense_A314T,Missense_A51T,Missense_A51T exm1071248 13 60584746 [T/C] NM_001258368,NM_001258367,NM_001258366,NM_001042517,NM_001258369,NM_030932,NM_001258370 DIAPH3,DIAPH3,DIAPH3,DIAPH3,DIAPH3,DIAPH3,DIAPH3 EXON Missense_V207M,Missense_V231M,Missense_V266M,Missense_V277M,Missense_V277M,Missense_V14M,Missense_V14M exm1071251 13 60584795 [A/C] NM_001258368,NM_001258367,NM_001258366,NM_001042517,NM_001258369,NM_030932,NM_001258370 DIAPH3,DIAPH3,DIAPH3,DIAPH3,DIAPH3,DIAPH3,DIAPH3 EXON Missense_L190F,Missense_L214F,Missense_L249F,Missense_L260F,Missense_L260F,Silent,Silent exm1071255 13 60590107 [T/A] NM_001258368,NM_001258367,NM_001258366,NM_001042517,NM_001258369,NR_046539,NR_051994,NR_051993 DIAPH3,DIAPH3,DIAPH3,DIAPH3,DIAPH3,DIAPH3-AS1,DIAPH3-AS1,DIAPH3-AS1 EXON Missense_K167N,Missense_K191N,Missense_K226N,Missense_K237N,Missense_K237N,Silent,Silent,Silent exm1071257 13 60590205 [A/G] NM_001258368,NM_001258367,NM_001258366,NM_001042517,NM_001258369,NR_046539,NR_051994,NR_051993 DIAPH3,DIAPH3,DIAPH3,DIAPH3,DIAPH3,DIAPH3-AS1,DIAPH3-AS1,DIAPH3-AS1 EXON Missense_I164T,Missense_I188T,Missense_I223T,Missense_I234T,Missense_I234T,Silent,Silent,Silent exm2251501 13 60616919 [T/C] NM_001258368,NM_001258367,NM_001258366,NM_001042517,NM_001258369,NR_046539,NR_051994,NR_051993 DIAPH3,DIAPH3,DIAPH3,DIAPH3,DIAPH3,DIAPH3-AS1,DIAPH3-AS1,DIAPH3-AS1 EXON Synonymous_Q107Q,Synonymous_Q131Q,Synonymous_Q166Q,Synonymous_Q177Q,Synonymous_Q177Q,Silent,Silent,Silent exm1071268 13 60686146 [T/C] NM_001258368,NM_001258367,NM_001258366,NM_001042517,NM_001258369 DIAPH3,DIAPH3,DIAPH3,DIAPH3,DIAPH3 EXON Silent,Missense_M119V,Missense_M119V,Missense_M130V,Missense_M130V exm1071269 13 60686177 [C/G] NM_001258368,NM_001258367,NM_001258366,NM_001042517,NM_001258369 DIAPH3,DIAPH3,DIAPH3,DIAPH3,DIAPH3 EXON Silent,Missense_E108D,Missense_E108D,Missense_E119D,Missense_E119D exm1071280 13 60737745 [A/C] NM_001258368,NM_001258367,NM_001258366,NM_001042517,NM_001258369 DIAPH3,DIAPH3,DIAPH3,DIAPH3,DIAPH3 EXON Missense_E52D,Missense_E52D,Missense_E52D,Missense_E52D,Missense_E52D exm1071282 13 60737755 [T/C] NM_001258368,NM_001258367,NM_001258366,NM_001042517,NM_001258369 DIAPH3,DIAPH3,DIAPH3,DIAPH3,DIAPH3 EXON Missense_G49D,Missense_G49D,Missense_G49D,Missense_G49D,Missense_G49D exm1071284 13 60737818 [T/C] NM_001258368,NM_001258367,NM_001258366,NM_001042517,NM_001258369 DIAPH3,DIAPH3,DIAPH3,DIAPH3,DIAPH3 EXON Missense_R28H,Missense_R28H,Missense_R28H,Missense_R28H,Missense_R28H exm2267533 13 60789907 [A/G] exm2260229 13 60932642 [T/C] exm1071297 13 61034661 [A/G] NM_030794,NM_001146071,NM_001146070 TDRD3,TDRD3,TDRD3 EXON Missense_M21V,Missense_M21V,Missense_M114V exm1799019 13 61057936 [A/G] NM_030794,NM_001146071,NM_001146070 TDRD3,TDRD3,TDRD3 EXON Missense_I82V,Missense_I82V,Missense_I175V exm1071313 13 61084025 [T/G] NM_030794,NM_001146071,NM_001146070 TDRD3,TDRD3,TDRD3 EXON Missense_Q236H,Missense_Q236H,Missense_Q329H exm1071315 13 61084036 [T/C] NM_030794,NM_001146071,NM_001146070 TDRD3,TDRD3,TDRD3 EXON Missense_M240T,Missense_M240T,Missense_M333T exm1071332 13 61102603 [A/G] NM_030794,NM_001146071,NM_001146070 TDRD3,TDRD3,TDRD3 EXON Missense_R322Q,Missense_R322Q,Missense_R415Q exm1071334 13 61102635 [C/G] NM_030794,NM_001146071,NM_001146070 TDRD3,TDRD3,TDRD3 EXON Missense_P333A,Missense_P333A,Missense_P426A exm1071335 13 61102689 [A/G] NM_030794,NM_001146071,NM_001146070 TDRD3,TDRD3,TDRD3 EXON Missense_G351R,Missense_G351R,Missense_G444R exm1071342 13 61103041 [T/G] NM_030794,NM_001146071,NM_001146070 TDRD3,TDRD3,TDRD3 EXON Missense_G468V,Missense_G468V,Missense_G561V exm1071343 13 61103095 [T/G] NM_030794,NM_001146071,NM_001146070 TDRD3,TDRD3,TDRD3 EXON Missense_R486L,Missense_R486L,Missense_R579L exm1071347 13 61103155 [A/G] NM_030794,NM_001146071,NM_001146070 TDRD3,TDRD3,TDRD3 EXON Missense_R506Q,Missense_R506Q,Missense_R599Q exm1071349 13 61103211 [A/G] NM_030794,NM_001146071,NM_001146070 TDRD3,TDRD3,TDRD3 EXON Missense_I525V,Missense_I525V,Missense_I618V exm1071361 13 61141669 [A/G] NM_030794,NM_001146071,NM_001146070 TDRD3,TDRD3,TDRD3 EXON Missense_G617D,Missense_G617D,Missense_G710D exm1071363 13 61141696 [A/G] NM_030794,NM_001146071,NM_001146070 TDRD3,TDRD3,TDRD3 EXON Missense_R626H,Missense_R626H,Missense_R719H exm1071365 13 61141762 [A/G] NM_030794,NM_001146071,NM_001146070 TDRD3,TDRD3,TDRD3 EXON Missense_R648Q,Missense_R648Q,Missense_R741Q exm2271945 13 61325761 [T/G] exm-rs3106598 13 61678912 [A/G] exm2264517 13 61683209 [A/C] exm1071367 13 61985401 [T/A] NM_022843 PCDH20 EXON Missense_K944M exm1071377 13 61985944 [A/G] NM_022843 PCDH20 EXON Missense_P763L exm1071386 13 61986056 [T/C] NM_022843 PCDH20 EXON Missense_A726T exm1071396 13 61986223 [T/C] NM_022843 PCDH20 EXON Missense_R670Q exm1071397 13 61986230 [T/C] NM_022843 PCDH20 EXON Missense_A668T exm1071409 13 61986521 [T/A] NM_022843 PCDH20 EXON Missense_S571T exm1071415 13 61986632 [T/C] NM_022843 PCDH20 EXON Missense_I534V exm1071417 13 61986751 [A/G] NM_022843 PCDH20 EXON Missense_P494L exm1071440 13 61987430 [T/G] NM_022843 PCDH20 EXON Missense_R268S exm1071442 13 61987481 [A/C] NM_022843 PCDH20 EXON Missense_D251Y exm1071453 13 61987744 [A/C] NM_022843 PCDH20 EXON Missense_S163I exm1071456 13 61987780 [A/G] NM_022843 PCDH20 EXON Missense_A151V exm1071459 13 61987906 [T/G] NM_022843 PCDH20 EXON Missense_T109N exm1071464 13 61987975 [T/G] NM_022843 PCDH20 EXON Missense_A86D exm1071467 13 61988013 [T/G] NM_022843 PCDH20 EXON Missense_N73K exm1071472 13 61989160 [T/C] NM_022843 PCDH20 EXON Synonymous_P44P exm1071473 13 61989161 [A/G] NM_022843 PCDH20 EXON Missense_P44L exm1071477 13 61989175 [T/G] NM_022843 PCDH20 EXON Missense_S39R exm2272019 13 62000820 [T/C] exm2271946 13 62248573 [T/C] exm2267534 13 62664851 [A/G] exm2267605 13 63306408 [A/G] exm2271947 13 63967568 [T/G] exm2267606 13 64225427 [A/G] exm2272021 13 64585809 [T/C] exm2271949 13 64749837 [T/C] exm2251513 13 64969902 [A/G] exm2264529 13 65610408 [A/C] exm2267537 13 65714783 [A/G] exm-rs1333026 13 66120784 [A/G] exm-rs9317527 13 66230607 [T/G] exm2267607 13 66328476 [A/G] exm-rs1585440 13 66481815 [T/G] exm1071488 13 66878874 [T/G] NM_203487,NM_020403 PCDH9,PCDH9 EXON Missense_S1209R,Missense_S1175R exm-rs17081231 13 66967622 [A/G] NM_203487,NM_020403 PCDH9,PCDH9 Silent,Silent exm2271950 13 67180045 [T/C] NM_203487,NM_020403 PCDH9,PCDH9 Silent,Silent exm1071500 13 67205386 [A/G] NM_203487,NM_020403 PCDH9,PCDH9 EXON Missense_P1099L,Missense_P1065L exm2260236 13 67376347 [T/G] NM_203487,NM_020403 PCDH9,PCDH9 Silent,Silent exm1071509 13 67477668 [T/G] NM_203487,NM_020403,NR_046527 PCDH9,PCDH9,PCDH9-AS2 EXON Missense_H1036N,Silent,Silent exm1071511 13 67477707 [A/G] NM_203487,NM_020403,NR_046527 PCDH9,PCDH9,PCDH9-AS2 EXON Missense_P1023S,Silent,Silent exm1071512 13 67477723 [T/G] NM_203487,NM_020403,NR_046527 PCDH9,PCDH9,PCDH9-AS2 EXON Missense_S1017R,Silent,Silent exm2271951 13 67798928 [T/C] NM_203487,NM_020403 PCDH9,PCDH9 Silent,Silent exm1799530 13 67799687 [G/C] NM_203487,NM_020403 PCDH9,PCDH9 EXON Missense_H962Q,Missense_H962Q exm1071517 13 67799808 [A/G] NM_203487,NM_020403 PCDH9,PCDH9 EXON Missense_P922L,Missense_P922L exm1071521 13 67799890 [T/C] NM_203487,NM_020403 PCDH9,PCDH9 EXON Missense_A895T,Missense_A895T exm1071533 13 67800024 [T/C] NM_203487,NM_020403 PCDH9,PCDH9 EXON Missense_S850N,Missense_S850N exm1071544 13 67800580 [T/C] NM_203487,NM_020403 PCDH9,PCDH9 EXON Missense_V665I,Missense_V665I exm1071548 13 67800676 [A/G] NM_203487,NM_020403 PCDH9,PCDH9 EXON Missense_F633L,Missense_F633L exm1071550 13 67800725 [A/C] NM_203487,NM_020403 PCDH9,PCDH9 EXON Missense_D616E,Missense_D616E exm1071557 13 67800867 [T/C] NM_203487,NM_020403 PCDH9,PCDH9 EXON Missense_S569N,Missense_S569N exm1071578 13 67801473 [A/G] NM_203487,NM_020403 PCDH9,PCDH9 EXON Missense_I367T,Missense_I367T exm1071595 13 67802016 [C/G] NM_203487,NM_020403 PCDH9,PCDH9 EXON Missense_S186T,Missense_S186T exm1071602 13 67802256 [T/C] NM_203487,NM_020403 PCDH9,PCDH9 EXON Missense_E106G,Missense_E106G exm1071613 13 67802558 [A/T] NM_203487,NM_020403 PCDH9,PCDH9 EXON Missense_D5E,Missense_D5E exm2264530 13 68183928 [A/C] exm2260239 13 68777809 [T/C] exm2271952 13 68819267 [T/C] exm-rs2066219 13 69530664 [A/G] exm2251529 13 69678627 [A/G] exm2267608 13 69759676 [A/G] exm1071621 13 70293522 [T/C] NM_020866 KLHL1 EXON Missense_R665Q exm1071638 13 70314663 [A/C] NM_020866 KLHL1 EXON Missense_I555M exm1071641 13 70370928 [A/C] NM_020866 KLHL1 EXON Missense_N527K exm1071661 13 70535472 [A/G] NM_020866 KLHL1 EXON Missense_A262V exm1071663 13 70535484 [A/G] NM_020866 KLHL1 EXON Missense_I258T exm1071671 13 70549906 [A/G] NM_020866 KLHL1 EXON Missense_P176S exm1071675 13 70681354 [T/C] NM_020866,NR_002717 KLHL1,ATXN8OS EXON Missense_G160S,Silent exm1071681 13 70681453 [T/C] NM_020866,NR_002717 KLHL1,ATXN8OS EXON Missense_E127K,Silent exm1071695 13 70681649 [G/C] NM_020866,NR_002717 KLHL1,ATXN8OS EXON Missense_E61D,Silent exm2221800 13 70681668 [T/C] NM_020866,NR_002717 KLHL1,ATXN8OS EXON Missense_R55H,Silent exm1071702 13 70681741 [A/C] NM_020866,NR_002717 KLHL1,ATXN8OS EXON Missense_G31C,Silent exm1071704 13 70681744 [T/C] NM_020866,NR_002717 KLHL1,ATXN8OS EXON Missense_G30S,Silent exm1071709 13 70681821 [G/C] NM_020866,NR_002717 KLHL1,ATXN8OS EXON Missense_S4C,Silent exm2271954 13 70756313 [T/G] exm-rs9572423 13 70846203 [A/G] exm2267609 13 70849153 [A/G] exm2267542 13 71136789 [A/G] exm2267543 13 71728125 [A/G] NR_047699 LINC00348 Silent exm-rs9592783 13 71883214 [A/G] exm2251535 13 71948095 [A/G] exm2267610 13 72048096 [A/G] NM_080760,NM_080759,NM_004392 DACH1,DACH1,DACH1 Silent,Silent,Silent exm1071712 13 72049312 [A/G] NM_080760,NM_080759,NM_004392 DACH1,DACH1,DACH1 EXON Missense_R536C,Missense_R684C,Missense_R482C exm1071728 13 72063188 [A/G] NM_080760,NM_080759,NM_004392 DACH1,DACH1,DACH1 EXON Missense_S409P,Missense_S557P,Missense_S355P exm1071731 13 72063244 [T/C] NM_080760,NM_080759,NM_004392 DACH1,DACH1,DACH1 EXON Missense_S390N,Missense_S538N,Missense_S336N exm1071736 13 72131201 [T/C] NM_080760,NM_080759,NM_004392 DACH1,DACH1,DACH1 EXON Silent,Missense_G511S,Silent exm1799806 13 72204689 [A/G] NM_080760,NM_080759,NM_004392 DACH1,DACH1,DACH1 EXON Synonymous_V377V,Synonymous_V377V,Silent exm2264531 13 72301632 [A/C] NM_080760,NM_080759,NM_004392 DACH1,DACH1,DACH1 Silent,Silent,Silent exm-rs626277 13 72347696 [A/C] NM_080760,NM_080759,NM_004392 DACH1,DACH1,DACH1 Silent,Silent,Silent exm-rs7336486 13 72438081 [A/G] NM_080760,NM_080759,NM_004392 DACH1,DACH1,DACH1 Silent,Silent,Silent exm1071759 13 72440060 [T/C] NM_080760,NM_080759,NM_004392 DACH1,DACH1,DACH1 EXON Missense_N283S,Missense_N283S,Missense_N283S exm1071782 13 72440801 [A/G] NM_080760,NM_080759,NM_004392 DACH1,DACH1,DACH1 EXON Missense_A36V,Missense_A36V,Missense_A36V exm2271955 13 72580624 [T/C] exm2271956 13 72909174 [T/C] exm1071794 13 73293169 [T/C] NM_001071775 MZT1 EXON Missense_R49Q exm1071798 13 73293205 [A/G] NM_001071775 MZT1 EXON Missense_T37I exm1071819 13 73303197 [T/C] NM_024808 BORA EXON Missense_A40V exm1799876 13 73305443 [A/G] NM_024808 BORA EXON Missense_I60V exm2267611 13 73307527 [A/G] NM_024808 BORA Silent exm1071824 13 73312167 [A/G] NM_024808 BORA EXON Missense_C125Y exm1071826 13 73317711 [A/G] NM_024808 BORA EXON Missense_K142R exm1071840 13 73319139 [A/G] NM_024808 BORA EXON Missense_E178K exm1071841 13 73319166 [A/C] NM_024808 BORA EXON Missense_L187I exm1071843 13 73319236 [T/C] NM_024808 BORA EXON Missense_S210L exm1799885 13 73319247 [A/G] NM_024808 BORA EXON Missense_G214R exm1071861 13 73320764 [A/G] NM_024808 BORA EXON Missense_M333V exm1071862 13 73320775 [T/G] NM_024808 BORA EXON Missense_Q336H exm1071868 13 73320924 [A/G] NM_024808 BORA EXON Missense_R386Q exm2221803 13 73321046 [A/G] NM_024808 BORA EXON Missense_E427K exm1071872 13 73321056 [A/G] NM_024808 BORA EXON Missense_N430S exm1071882 13 73329349 [A/C] NM_024808 BORA EXON Missense_P559T exm1071889 13 73333935 [A/G] NM_001128226,NM_014953 DIS3,DIS3 EXON Missense_X929Q,Missense_X959Q exm1071891 13 73333944 [A/G] NM_001128226,NM_014953 DIS3,DIS3 EXON Missense_L926F,Missense_L956F exm1071911 13 73335638 [T/C] NM_001128226,NM_014953 DIS3,DIS3 EXON Missense_I815V,Missense_I845V exm1071913 13 73335809 [T/C] NM_001128226,NM_014953 DIS3,DIS3 EXON Missense_R799H,Missense_R829H exm1799912 13 73335810 [A/G] NM_001128226,NM_014953 DIS3,DIS3 EXON Missense_R799C,Missense_R829C exm1071920 13 73336100 [A/G] NM_001128226,NM_014953 DIS3,DIS3 EXON Missense_A738V,Missense_A768V exm1071937 13 73340177 [A/G] NM_001128226,NM_014953 DIS3,DIS3 EXON Missense_P605S,Missense_P635S exm1071942 13 73342974 [T/C] NM_001128226,NM_014953 DIS3,DIS3 EXON Missense_R581H,Missense_R611H exm1799924 13 73343046 [A/G] NM_001128226,NM_014953 DIS3,DIS3 EXON Missense_S557F,Missense_S587F exm1071949 13 73345274 [T/C] NM_001128226,NM_014953 DIS3,DIS3 EXON Missense_M509V,Missense_M539V exm2221807 13 73345967 [A/G] NM_001128226,NM_014953 DIS3,DIS3 EXON Missense_A494V,Missense_A524V exm1071953 13 73345986 [T/C] NM_001128226,NM_014953 DIS3,DIS3 EXON Missense_A488T,Missense_A518T exm1071954 13 73346033 [A/G] NM_001128226,NM_014953 DIS3,DIS3 EXON Missense_V472A,Missense_V502A exm1071961 13 73346406 [T/C] NM_001128226,NM_014953 DIS3,DIS3 EXON Missense_K435R,Missense_K465R exm1071965 13 73346905 [T/C] NM_001128226,NM_014953 DIS3,DIS3 EXON Missense_D408N,Missense_D438N exm1071971 13 73347859 [A/G] NM_001128226,NM_014953 DIS3,DIS3 EXON Missense_A371V,Missense_A401V exm1071975 13 73347911 [A/G] NM_001128226,NM_014953 DIS3,DIS3 EXON Missense_R354C,Missense_R384C exm1071976 13 73347916 [T/C] NM_001128226,NM_014953 DIS3,DIS3 EXON Missense_R352Q,Missense_R382Q exm1071978 13 73347952 [T/C] NM_001128226,NM_014953 DIS3,DIS3 EXON Missense_R340K,Missense_R370K exm1071979 13 73347956 [T/C] NM_001128226,NM_014953 DIS3,DIS3 EXON Missense_R339G,Missense_R369G exm1071984 13 73348188 [T/C] NM_001128226,NM_014953 DIS3,DIS3 EXON Missense_A303T,Missense_A333T exm1071987 13 73349359 [C/G] NM_001128226,NM_014953 DIS3,DIS3 EXON Missense_T296R,Missense_T326R exm1071994 13 73350079 [T/C] NM_001128226,NM_014953 DIS3,DIS3 EXON Missense_N239S,Missense_N269S exm1071996 13 73350089 [G/C] NM_001128226,NM_014953 DIS3,DIS3 EXON Missense_H236D,Missense_H266D exm1072001 13 73350194 [A/G] NM_001128226,NM_014953 DIS3,DIS3 EXON Missense_H201Y,Missense_H231Y exm1072005 13 73351598 [A/G] NM_001128226,NM_014953 DIS3,DIS3 EXON Missense_P175L,Missense_P205L exm1072006 13 73351629 [A/C] NM_001128226,NM_014953 DIS3,DIS3 EXON Nonsense_E165X,Nonsense_E195X exm1072012 13 73352508 [T/C] NM_001128226,NM_014953 DIS3,DIS3 EXON Missense_V103I,Missense_V133I exm1072015 13 73355096 [A/G] NM_001128226,NM_014953 DIS3,DIS3 EXON Silent,Nonsense_Q92X exm1072037 13 73357636 [A/G] NM_006346 PIBF1 EXON Missense_K10R exm1072042 13 73357709 [T/G] NM_006346 PIBF1 EXON Missense_I34M exm1072044 13 73357758 [A/G] NM_006346 PIBF1 EXON Missense_I51V exm1072046 13 73357825 [T/C] NM_006346 PIBF1 EXON Missense_M73T exm1072058 13 73369642 [A/G] NM_006346 PIBF1 EXON Missense_I167V exm1072071 13 73396102 [A/G] NM_006346 PIBF1 EXON Missense_N263S exm1072078 13 73401237 [A/G] NM_006346 PIBF1 EXON Missense_R299Q exm1072083 13 73401935 [A/C] NM_006346 PIBF1 EXON Missense_N327T exm1072084 13 73402015 [A/G] NM_006346 PIBF1 EXON Missense_A354T exm1072091 13 73409497 [A/G] NM_006346 PIBF1 EXON Missense_R405Q exm1072107 13 73468005 [A/G] NM_006346 PIBF1 EXON Missense_R469H exm1799998 13 73468050 [A/G] NM_006346 PIBF1 EXON Missense_C484Y exm1072113 13 73482747 [A/C] NM_006346 PIBF1 EXON Missense_H523N exm1072115 13 73491253 [A/G] NM_006346 PIBF1 EXON Missense_Y560C exm1072119 13 73505365 [T/G] NM_006346 PIBF1 EXON Missense_L598R exm1072123 13 73539466 [A/G] NM_006346 PIBF1 EXON Missense_I630V exm1072126 13 73539509 [T/C] NM_006346 PIBF1 EXON Missense_T644M exm-IND13-72445734 13 73547734 [I/D] NM_006346 PIBF1 EXON exm1072134 13 73573048 [A/C] NM_006346 PIBF1 EXON Missense_H713P exm1072145 13 73590025 [A/G] NM_006346 PIBF1 EXON Missense_E748K exm1072154 13 73636050 [A/G] NM_001730 KLF5 EXON Missense_I105V exm1072163 13 73636392 [A/C] NM_001730 KLF5 EXON Missense_L219I exm1072166 13 73636482 [A/G] NM_001730 KLF5 EXON Missense_M249V exm1072168 13 73636581 [C/G] NM_001730 KLF5 EXON Missense_P282A exm1072169 13 73636590 [A/G] NM_001730 KLF5 EXON Missense_T285A exm1072170 13 73636621 [A/C] NM_001730 KLF5 EXON Missense_Q295P exm1072181 13 73636871 [T/C] NM_001730 KLF5 EXON Synonymous_P378P exm2271957 13 73649333 [T/C] NM_001730 KLF5 Silent exm-rs9600079 13 73728139 [T/G] exm-rs9543281 13 73803901 [A/G] exm2267612 13 73883426 [A/G] exm-rs9543325 13 73916628 [T/C] exm2271958 13 74186366 [T/G] exm1072199 13 74289627 [A/C] NM_007249 KLF12 EXON Missense_R302L exm2274659 13 74387355 [T/C] NM_007249 KLF12 EXON Missense_N247S exm2221814 13 74420027 [A/G] NM_007249 KLF12 EXON Missense_P203S exm1072227 13 74420269 [T/C] NM_007249 KLF12 EXON Missense_R122H exm1072230 13 74420281 [A/G] NM_007249 KLF12 EXON Missense_S118L exm-rs9600179 13 74440000 [T/C] NM_007249 KLF12 Silent exm2271959 13 74474851 [T/C] NM_007249 KLF12 Silent exm-rs1886512 13 74520186 [A/T] NM_007249 KLF12 Silent exm-rs9600211 13 74562669 [A/C] NM_007249 KLF12 Silent exm-rs8000245 13 74730392 [T/C] exm-rs12429889 13 74742322 [T/C] exm2272024 13 74870513 [T/C] exm2251542 13 75084120 [T/C] exm2271961 13 75629027 [T/C] exm-rs548097 13 75776268 [T/G] exm1072254 13 75860990 [C/G] NM_014832 TBC1D4 EXON Missense_L1279V exm1072255 13 75860998 [T/C] NM_014832 TBC1D4 EXON Missense_N1276S exm1072256 13 75861001 [A/G] NM_014832 TBC1D4 EXON Missense_V1275A exm1072263 13 75861063 [A/T] NM_014832 TBC1D4 EXON Missense_E1254D exm1072264 13 75861080 [A/G] NM_014832 TBC1D4 EXON Missense_R1249W exm1072270 13 75863116 [T/C] NM_014832 TBC1D4 EXON Missense_N1206S exm1072274 13 75863245 [A/C] NM_014832 TBC1D4 EXON Missense_V1163G exm1072275 13 75866284 [A/G] NM_014832 TBC1D4 EXON Missense_T1147M exm1072276 13 75866368 [A/G] NM_014832 TBC1D4 EXON Missense_V1119A exm1072285 13 75873709 [A/T] NM_014832 TBC1D4 EXON Synonymous_G971G exm1072287 13 75876396 [A/G] NM_014832 TBC1D4 EXON Missense_A965V exm1072299 13 75884216 [T/C] NM_014832 TBC1D4 EXON Missense_V819I exm1072304 13 75884289 [T/C] NM_014832 TBC1D4 Silent exm1072307 13 75886879 [T/C] NM_014832 TBC1D4 EXON Missense_Q793R exm2221817 13 75886952 [A/G] NM_014832 TBC1D4 EXON Missense_R769W exm1072312 13 75887003 [T/C] NM_014832 TBC1D4 EXON Missense_T752A exm1072314 13 75898371 [A/C] NM_014832 TBC1D4 Silent exm1800136 13 75898424 [T/C] NM_014832 TBC1D4 EXON Missense_S716N exm1072316 13 75898521 [G/C] NM_014832 TBC1D4 EXON Missense_R684G exm1072323 13 75900472 [T/C] NM_014832 TBC1D4 EXON Missense_D632N exm1072324 13 75900510 [A/G] NM_014832 TBC1D4 EXON Missense_P619L exm1800144 13 75901914 [A/G] NM_014832 TBC1D4 EXON Missense_R594W exm1072328 13 75911097 [T/C] NM_014832 TBC1D4 EXON Missense_K564R exm1072337 13 75915261 [A/C] NM_014832 TBC1D4 EXON Synonymous_S537S exm1072339 13 75915277 [A/C] NM_014832 TBC1D4 EXON Missense_I532S exm1072341 13 75915303 [T/G] NM_014832 TBC1D4 EXON Missense_E523D exm2264519 13 75923963 [A/C] NM_014832 TBC1D4 Silent exm1072351 13 75930342 [A/G] NM_014832 TBC1D4 EXON Missense_P406S exm1072360 13 75936281 [T/C] NM_014832 TBC1D4 EXON Missense_G321S exm1072361 13 75936328 [C/G] NM_014832 TBC1D4 EXON Missense_G305A exm1072362 13 75936334 [T/G] NM_014832 TBC1D4 EXON Missense_D303A exm1072376 13 75936529 [T/G] NM_014832 TBC1D4 EXON Missense_K238T exm2272025 13 75993887 [T/C] NM_014832 TBC1D4 Silent exm1072391 13 76055491 [T/G] NM_014832 TBC1D4 EXON Missense_Y138S exm1072399 13 76055602 [A/G] NM_014832 TBC1D4 EXON Missense_A101V exm1072425 13 76104319 [A/C] NM_203497,NM_203495 COMMD6,COMMD6 EXON Missense_M46I,Missense_M46I exm1072437 13 76111929 [T/C] NM_203497,NM_203495 COMMD6,COMMD6 EXON Missense_S5G,Missense_S5G exm1072472 13 76169058 [A/G] NM_001270952,NM_006002 UCHL3,UCHL3 EXON Missense_S125N,Missense_S161N exm1072483 13 76195833 [A/G] NM_005358 LMO7 EXON Missense_K2E exm1072486 13 76195882 [A/G] NM_005358 LMO7 EXON Missense_Y18C exm1072487 13 76195885 [T/A] NM_005358 LMO7 EXON Missense_D19V exm1072492 13 76196005 [A/G] NM_005358 LMO7 Silent exm1072494 13 76197458 [T/C] NM_005358 LMO7 Silent exm2272026 13 76264364 [T/C] NM_005358 LMO7 Silent exm2221820 13 76287325 [A/C] NM_005358 LMO7 EXON Missense_T78K exm1072500 13 76287343 [A/C] NM_005358 LMO7 EXON Missense_T84K exm1072502 13 76287354 [C/G] NM_005358 LMO7 EXON Missense_R88G exm1072506 13 76301190 [A/G] NM_005358 LMO7 EXON Missense_V108I exm1072508 13 76301193 [A/G] NM_005358 LMO7 EXON Missense_I109V exm2251544 13 76335079 [T/C] NM_005358,NM_015842 LMO7,LMO7 EXON Synonymous_N126N,Silent exm1072519 13 76335140 [T/G] NM_005358,NM_015842 LMO7,LMO7 EXON Missense_D147Y,Silent exm1072534 13 76374826 [A/G] NM_005358,NM_015842 LMO7,LMO7 EXON Missense_E209K,Silent exm1072542 13 76374995 [T/C] NM_005358,NM_015842 LMO7,LMO7 EXON Missense_I265T,Silent exm1072544 13 76375006 [C/G] NM_005358,NM_015842 LMO7,LMO7 EXON Missense_G269R,Silent exm1072550 13 76378436 [A/G] NM_005358,NM_015842 LMO7,LMO7 EXON Missense_D277N,Silent exm1072563 13 76378644 [T/C] NM_005358,NM_015842 LMO7,LMO7 EXON Missense_P346L,Missense_P61L exm1072570 13 76381713 [T/A] NM_005358,NM_015842 LMO7,LMO7 EXON Silent,Missense_I199L exm1072571 13 76381719 [T/C] NM_005358,NM_015842 LMO7,LMO7 EXON Silent,Missense_R201C exm1072578 13 76382029 [A/G] NM_005358,NM_015842 LMO7,LMO7 EXON Silent,Missense_R304K exm1072582 13 76382056 [T/C] NM_005358,NM_015842 LMO7,LMO7 EXON Silent,Missense_P313L exm1072583 13 76382100 [T/C] NM_005358,NM_015842 LMO7,LMO7 EXON Silent,Missense_L328F exm1072592 13 76383307 [A/G] NM_005358,NM_015842 LMO7,LMO7 EXON Missense_Y363C,Missense_Y412C exm1072600 13 76391366 [A/G] NM_005358,NM_015842 LMO7,LMO7 EXON Missense_M390I,Missense_M439I exm1072612 13 76395342 [T/C] NM_005358,NM_015842 LMO7,LMO7 EXON Missense_P464L,Missense_P513L exm1072620 13 76395444 [A/G] NM_005358,NM_015842 LMO7,LMO7 EXON Missense_E498G,Missense_E547G exm1072621 13 76395464 [T/C] NM_005358,NM_015842 LMO7,LMO7 EXON Missense_P505S,Missense_P554S exm1072629 13 76395620 [T/C] NM_005358,NM_015842 LMO7,LMO7 EXON Missense_R557C,Missense_R606C exm1072637 13 76397701 [A/G] NM_005358,NM_015842 LMO7,LMO7 EXON Missense_M599V,Missense_M648V exm1072638 13 76397710 [A/G] NM_005358,NM_015842 LMO7,LMO7 EXON Missense_A602T,Missense_A651T exm1072639 13 76397731 [A/G] NM_005358,NM_015842 LMO7,LMO7 EXON Missense_V609I,Missense_V658I exm1072641 13 76397737 [C/G] NM_005358,NM_015842 LMO7,LMO7 EXON Missense_D611H,Missense_D660H exm1072643 13 76397771 [T/C] NM_005358,NM_015842 LMO7,LMO7 EXON Missense_T622I,Missense_T671I exm1072645 13 76397786 [T/C] NM_005358,NM_015842 LMO7,LMO7 EXON Missense_P627L,Missense_P676L exm1072646 13 76397816 [T/C] NM_005358,NM_015842 LMO7,LMO7 EXON Missense_S637F,Missense_S686F exm1072647 13 76397819 [T/G] NM_005358,NM_015842 LMO7,LMO7 EXON Missense_S638I,Missense_S687I exm1072653 13 76397962 [T/C] NM_005358,NM_015842 LMO7,LMO7 EXON Missense_S686P,Missense_S735P exm1072666 13 76408445 [A/G] NM_005358,NM_015842 LMO7,LMO7 EXON Missense_K768E,Missense_K817E exm1072688 13 76414241 [T/C] NM_005358,NM_015842 LMO7,LMO7 EXON Missense_P876S,Missense_P925S exm1072698 13 76415283 [T/G] NM_005358,NM_015842 LMO7,LMO7 EXON Missense_E925D,Missense_E974D exm1072700 13 76415305 [A/G] NM_005358,NM_015842 LMO7,LMO7 EXON Missense_A933T,Missense_A982T exm1800274 13 76416034 [A/G] NM_005358,NM_015842 LMO7,LMO7 EXON Missense_E1034K,Missense_E1083K exm1072715 13 76416067 [T/C] NM_005358,NM_015842 LMO7,LMO7 EXON Missense_R1045C,Missense_R1094C exm1072716 13 76416068 [A/G] NM_005358,NM_015842 LMO7,LMO7 EXON Missense_R1045H,Missense_R1094H exm1072717 13 76416085 [T/C] NM_005358,NM_015842 LMO7,LMO7 EXON Missense_R1051W,Missense_R1100W exm2271962 13 76417101 [T/C] NM_005358,NM_015842 LMO7,LMO7 Silent,Silent exm1072737 13 76423248 [T/C] NM_005358,NM_015842 LMO7,LMO7 EXON Missense_M1113T,Missense_M1162T exm1800284 13 76423351 [A/C] NM_005358,NM_015842 LMO7,LMO7 EXON Missense_H1147Q,Missense_H1196Q exm1072743 13 76423398 [A/G] NM_005358,NM_015842 LMO7,LMO7 EXON Missense_E1163G,Missense_E1212G exm1072746 13 76427253 [T/G] NM_005358,NM_015842 LMO7,LMO7 EXON Missense_S1182A,Missense_S1231A exm1072751 13 76427341 [A/G] NM_005358,NM_015842 LMO7,LMO7 EXON Missense_R1211H,Missense_R1260H exm1072752 13 76427347 [A/C] NM_005358,NM_015842 LMO7,LMO7 EXON Missense_P1213Q,Missense_P1262Q exm1072754 13 76427373 [T/C] NM_005358,NM_015842 LMO7,LMO7 EXON Missense_R1222C,Missense_R1271C exm1072758 13 76427410 [G/C] NM_005358,NM_015842 LMO7,LMO7 EXON Missense_P1234R,Missense_P1283R exm1072764 13 76427520 [A/G] NM_005358,NM_015842 LMO7,LMO7 EXON Missense_N1271D,Missense_N1320D exm1800291 13 76429413 [A/G] NM_005358,NM_015842 LMO7,LMO7 EXON Missense_R1278H,Silent exm1072769 13 76429475 [A/G] NM_005358,NM_015842 LMO7,LMO7 EXON Missense_G1299S,Silent exm1800294 13 76430665 [T/C] NM_005358,NM_015842 LMO7,LMO7 EXON Synonymous_L1316L,Missense_S1329L exm1072775 13 76432055 [A/G] NM_005358,NM_015842 LMO7,LMO7 Silent,Silent exm1072776 13 76432070 [T/C] NM_005358,NM_015842 LMO7,LMO7 EXON Synonymous_T1347T,Missense_P1360L exm2251548 13 77145054 [A/C] exm2271963 13 77397401 [T/C] exm1072787 13 77459383 [T/C] NM_138444 KCTD12 EXON Missense_A301T exm1072788 13 77459394 [A/G] NM_138444 KCTD12 EXON Missense_T297M exm1072798 13 77459642 [T/G] NM_138444 KCTD12 EXON Nonsense_Y214X exm1072806 13 77459956 [A/G] NM_138444 KCTD12 EXON Missense_R110C exm2272027 13 77506934 [T/C] exm1072835 13 77566090 [T/C] NM_006493 CLN5 EXON Missense_R2C exm1072845 13 77566238 [T/C] NM_006493 CLN5 EXON Missense_A51V exm2221829 13 77570121 [C/G] NM_006493 CLN5 EXON Missense_G191R exm1072869 13 77570156 [A/G] NM_006493 CLN5 EXON Missense_M202I exm1072875 13 77574606 [A/C] NM_006493 CLN5 EXON Missense_N242K exm2221830 13 77574962 [T/C] NM_006493 CLN5 EXON Missense_F361S exm1072887 13 77574983 [A/G] NM_006493 CLN5 EXON Missense_K368R exm2273508 13 77575137 [A/G] NM_006493 CLN5 EXON Silent exm2221831 13 77595673 [T/G] NM_012158 FBXL3 EXON Missense_N108T exm1072944 13 77632432 [A/G] NM_015057 MYCBP2 EXON Missense_A4417V exm1072945 13 77632449 [T/G] NM_015057 MYCBP2 EXON Missense_H4411Q exm1072969 13 77640153 [T/C] NM_015057 MYCBP2 EXON Missense_I4176V exm1072972 13 77641789 [T/C] NM_015057 MYCBP2 EXON Missense_I4128V exm1072973 13 77641792 [T/C] NM_015057 MYCBP2 EXON Missense_T4127A exm1073025 13 77663030 [T/G] NM_015057 MYCBP2 EXON Missense_E3554D exm1073034 13 77667429 [T/C] NM_015057 MYCBP2 EXON Missense_N3413S exm1073044 13 77669736 [A/G] NM_015057 MYCBP2 EXON Missense_V3319A exm1073077 13 77672285 [T/C] NM_015057 MYCBP2 EXON Missense_E3002K exm1073090 13 77672645 [A/G] NM_015057 MYCBP2 EXON Missense_R2882C exm1073094 13 77672744 [T/C] NM_015057 MYCBP2 EXON Missense_N2849D exm1073095 13 77672767 [T/C] NM_015057 MYCBP2 EXON Missense_R2841H exm1073097 13 77672809 [A/G] NM_015057 MYCBP2 EXON Missense_L2827P exm1073104 13 77672926 [A/G] NM_015057 MYCBP2 EXON Missense_L2788S exm1073127 13 77699555 [T/C] NM_015057 MYCBP2 EXON Missense_V2645I exm1073129 13 77699596 [T/C] NM_015057 MYCBP2 EXON Missense_N2631S exm1073154 13 77718663 [T/C] NM_015057 MYCBP2 EXON Missense_N2407S exm1073159 13 77724928 [T/C] NM_015057 MYCBP2 EXON Missense_V2358I exm1073165 13 77724997 [T/G] NM_015057 MYCBP2 EXON Missense_P2335T exm1073177 13 77732162 [T/C] NM_015057 MYCBP2 EXON Missense_N2227S exm1073196 13 77739525 [T/C] NM_015057 MYCBP2 EXON Synonymous_G2114G exm1073200 13 77740577 [T/C] NM_015057 MYCBP2 EXON Missense_N2076S exm1073207 13 77742618 [T/C] NM_015057 MYCBP2 EXON Missense_Y2020C exm1073210 13 77743757 [T/C] NM_015057 MYCBP2 EXON Missense_I1963V exm1073213 13 77745666 [A/C] NM_015057 MYCBP2 EXON Missense_A1919S exm1073236 13 77751957 [T/C] NM_015057 MYCBP2 EXON Missense_I1756V exm1073237 13 77751965 [T/C] NM_015057 MYCBP2 EXON Missense_K1753R exm1073242 13 77754281 [A/G] NM_015057 MYCBP2 EXON Missense_A1705V exm1073244 13 77754330 [T/C] NM_015057 MYCBP2 EXON Missense_V1689I exm1073260 13 77759465 [T/C] NM_015057 MYCBP2 EXON Missense_I1498V exm1073275 13 77765917 [T/C] NM_015057 MYCBP2 EXON Missense_V1323I exm2276299 13 77780922 [A/G] NM_015057 MYCBP2 EXON Missense_A1152V exm1073332 13 77825359 [T/C] NM_015057 MYCBP2 EXON Missense_T770A exm1073339 13 77831927 [G/C] NM_015057 MYCBP2 EXON Missense_Q685H exm1073350 13 77835416 [T/C] NM_015057 MYCBP2 EXON Missense_K581R exm1073352 13 77835432 [T/C] NM_015057 MYCBP2 EXON Missense_I576V exm1073373 13 77847651 [A/C] NM_015057 MYCBP2 EXON Missense_A301S exm1073387 13 77862310 [T/C] NM_015057 MYCBP2 EXON Missense_I194V exm2271964 13 77947207 [T/C] exm2272028 13 77975946 [T/G] exm1073405 13 78130761 [A/G] NM_144777,NM_001160706,NM_003843 SCEL,SCEL,SCEL EXON Missense_R25Q,Missense_R25Q,Missense_R25Q exm1073407 13 78130781 [T/G] NM_144777,NM_001160706,NM_003843 SCEL,SCEL,SCEL EXON Nonsense_E32X,Nonsense_E32X,Nonsense_E32X exm1073416 13 78133983 [A/G] NM_144777,NM_001160706,NM_003843 SCEL,SCEL,SCEL EXON Missense_H69R,Missense_H69R,Missense_H69R exm1073422 13 78138028 [A/T] NM_144777,NM_001160706,NM_003843 SCEL,SCEL,SCEL EXON Nonsense_L95X,Nonsense_L95X,Nonsense_L95X exm1073425 13 78141855 [A/G] NM_144777,NM_001160706,NM_003843 SCEL,SCEL,SCEL EXON Missense_N111D,Missense_N111D,Missense_N111D exm1073426 13 78142431 [A/C] NM_144777,NM_001160706,NM_003843 SCEL,SCEL,SCEL EXON Missense_S121R,Missense_S121R,Missense_S121R exm1073429 13 78143516 [A/G] NM_144777,NM_001160706,NM_003843 SCEL,SCEL,SCEL EXON Missense_G137S,Missense_G137S,Missense_G137S exm1073432 13 78146273 [T/C] NM_144777,NM_001160706,NM_003843 SCEL,SCEL,SCEL EXON Missense_P165L,Silent,Missense_P165L exm1073433 13 78146276 [T/C] NM_144777,NM_001160706,NM_003843 SCEL,SCEL,SCEL EXON Missense_P166L,Silent,Missense_P166L exm1073443 13 78165565 [A/G] NM_144777,NM_001160706,NM_003843 SCEL,SCEL,SCEL EXON Missense_E221G,Missense_E199G,Missense_E221G exm1073451 13 78171707 [A/G] NM_144777,NM_001160706,NM_003843 SCEL,SCEL,SCEL EXON Missense_M260I,Missense_M238I,Missense_M240I exm1800472 13 78178500 [A/C] NM_144777,NM_001160706,NM_003843 SCEL,SCEL,SCEL EXON Missense_D369E,Silent,Missense_D349E exm1073477 13 78178547 [T/C] NM_144777,NM_001160706,NM_003843 SCEL,SCEL,SCEL EXON Missense_T385M,Silent,Missense_T365M exm1073485 13 78184195 [A/G] NM_144777,NM_001160706,NM_003843 SCEL,SCEL,SCEL EXON Missense_D431N,Missense_D389N,Missense_D411N exm1073492 13 78188078 [A/G] NM_144777,NM_001160706,NM_003843 SCEL,SCEL,SCEL EXON Missense_K480R,Missense_K438R,Missense_K460R exm1800484 13 78191762 [T/G] NM_144777,NM_001160706,NM_003843 SCEL,SCEL,SCEL EXON Missense_V494L,Missense_V452L,Missense_V474L exm1073495 13 78191957 [T/C] NM_144777,NM_001160706,NM_003843 SCEL,SCEL,SCEL EXON Missense_L511F,Missense_L469F,Missense_L491F exm1073496 13 78192153 [A/G] NM_144777,NM_001160706,NM_003843 SCEL,SCEL,SCEL EXON Missense_N529S,Missense_N487S,Missense_N509S exm1073507 13 78208552 [A/C] NM_144777,NM_001160706,NM_003843 SCEL,SCEL,SCEL EXON Missense_T577N,Missense_T535N,Missense_T557N exm1073510 13 78208575 [T/G] NM_144777,NM_001160706,NM_003843 SCEL,SCEL,SCEL EXON Missense_V585L,Missense_V543L,Missense_V565L exm1073520 13 78216885 [T/G] NM_144777,NM_001160706,NM_003843 SCEL,SCEL,SCEL EXON Missense_D664E,Missense_D622E,Missense_D644E exm1073523 13 78216922 [T/C] NM_144777,NM_001160706,NM_003843 SCEL,SCEL,SCEL EXON Missense_P677S,Missense_P635S,Missense_P657S exm2221839 13 78315295 [G/C] NM_001242868,NM_001040153,NM_001242869,NM_144595,NM_001242870,NM_001242871 SLAIN1,SLAIN1,SLAIN1,SLAIN1,SLAIN1,SLAIN1 EXON Silent,Silent,Silent,Silent,Silent,Silent exm1800513 13 78320753 [A/G] NM_001242868,NM_001040153,NM_001242869,NM_144595,NM_001242870,NM_001242871 SLAIN1,SLAIN1,SLAIN1,SLAIN1,SLAIN1,SLAIN1 EXON Missense_D341N,Missense_D177N,Silent,Missense_D56N,Silent,Missense_D55N exm1073537 13 78320801 [C/G] NM_001242868,NM_001040153,NM_001242869,NM_144595,NM_001242870,NM_001242871 SLAIN1,SLAIN1,SLAIN1,SLAIN1,SLAIN1,SLAIN1 EXON Missense_P357A,Missense_P193A,Silent,Missense_P72A,Silent,Missense_P71A exm1073539 13 78320829 [T/C] NM_001242868,NM_001040153,NM_001242869,NM_144595,NM_001242870,NM_001242871 SLAIN1,SLAIN1,SLAIN1,SLAIN1,SLAIN1,SLAIN1 EXON Missense_P366L,Missense_P202L,Silent,Missense_P81L,Silent,Missense_P80L exm1073542 13 78320935 [T/G] NM_001242868,NM_001040153,NM_001242869,NM_144595,NM_001242870,NM_001242871 SLAIN1,SLAIN1,SLAIN1,SLAIN1,SLAIN1,SLAIN1 EXON Missense_Q401H,Missense_Q237H,Silent,Missense_Q116H,Silent,Missense_Q115H exm1073546 13 78327414 [A/G] NM_001242868,NM_001040153,NM_001242869,NM_144595,NM_001242870,NM_001242871 SLAIN1,SLAIN1,SLAIN1,SLAIN1,SLAIN1,SLAIN1 EXON Synonymous_P445P,Synonymous_P281P,Synonymous_P46P,Synonymous_P160P,Synonymous_P46P,Synonymous_P159P exm1073549 13 78327455 [A/C] NM_001242868,NM_001040153,NM_001242869,NM_144595,NM_001242870,NM_001242871 SLAIN1,SLAIN1,SLAIN1,SLAIN1,SLAIN1,SLAIN1 EXON Missense_H459P,Missense_H295P,Missense_H60P,Missense_H174P,Missense_H60P,Missense_H173P exm1073553 13 78335064 [A/G] NM_001242868,NM_001040153,NM_001242869,NM_144595,NM_001242870,NM_001242871 SLAIN1,SLAIN1,SLAIN1,SLAIN1,SLAIN1,SLAIN1 EXON Missense_V506I,Missense_V342I,Missense_V107I,Missense_V221I,Missense_V107I,Missense_V220I exm1073559 13 78335147 [A/G] NM_001242868,NM_001040153,NM_001242869,NM_144595,NM_001242870,NM_001242871 SLAIN1,SLAIN1,SLAIN1,SLAIN1,SLAIN1,SLAIN1 EXON Synonymous_A533A,Synonymous_A369A,Synonymous_A134A,Synonymous_A248A,Synonymous_A134A,Synonymous_A247A exm1073569 13 78472379 [T/C] NM_000115,NM_003991,NM_001122659,NM_001201397 EDNRB,EDNRB,EDNRB,EDNRB EXON Missense_G429R,Silent,Missense_G429R,Missense_G519R exm1800531 13 78474098 [G/C] NM_000115,NM_003991,NM_001122659,NM_001201397 EDNRB,EDNRB,EDNRB,EDNRB EXON Missense_L364V,Missense_L364V,Missense_L364V,Missense_L454V exm1073574 13 78475230 [T/C] NM_000115,NM_003991,NM_001122659,NM_001201397 EDNRB,EDNRB,EDNRB,EDNRB EXON Missense_S305N,Missense_S305N,Missense_S305N,Missense_S395N exm1073577 13 78477314 [A/C] NM_000115,NM_003991,NM_001122659,NM_001201397 EDNRB,EDNRB,EDNRB,EDNRB EXON Missense_V260F,Missense_V260F,Missense_V260F,Missense_V350F exm1073580 13 78477334 [T/C] NM_000115,NM_003991,NM_001122659,NM_001201397 EDNRB,EDNRB,EDNRB,EDNRB EXON Missense_R253Q,Missense_R253Q,Missense_R253Q,Missense_R343Q exm1073584 13 78477361 [A/G] NM_000115,NM_003991,NM_001122659,NM_001201397 EDNRB,EDNRB,EDNRB,EDNRB EXON Missense_T244M,Missense_T244M,Missense_T244M,Missense_T334M exm1073602 13 78492482 [A/C] NM_000115,NM_003991,NM_001122659,NM_001201397 EDNRB,EDNRB,EDNRB,EDNRB EXON Missense_R76M,Missense_R76M,Missense_R76M,Missense_R166M exm1073605 13 78492531 [T/C] NM_000115,NM_003991,NM_001122659,NM_001201397 EDNRB,EDNRB,EDNRB,EDNRB EXON Missense_A60T,Missense_A60T,Missense_A60T,Missense_A150T exm1073606 13 78492540 [T/C] NM_000115,NM_003991,NM_001122659,NM_001201397 EDNRB,EDNRB,EDNRB,EDNRB EXON Missense_G57S,Missense_G57S,Missense_G57S,Missense_G147S exm1073612 13 78492660 [A/G] NM_000115,NM_003991,NM_001122659,NM_001201397 EDNRB,EDNRB,EDNRB,EDNRB EXON Missense_L17F,Missense_L17F,Missense_L17F,Missense_L107F exm1073615 13 78492696 [T/G] NM_000115,NM_003991,NM_001122659,NM_001201397 EDNRB,EDNRB,EDNRB,EDNRB EXON Missense_P5T,Missense_P5T,Missense_P5T,Missense_P95T exm1073616 13 78492734 [T/C] NM_000115,NM_003991,NM_001122659,NM_001201397 EDNRB,EDNRB,EDNRB,EDNRB EXON Silent,Silent,Silent,Missense_R82Q exm2251552 13 78644635 [A/C] NR_047001 POU4F1-AS1 Silent exm-rs9574199 13 78808914 [A/C] NR_047001 POU4F1-AS1 Silent exm2267545 13 78994226 [A/G] NR_047001 POU4F1-AS1 Silent exm2272029 13 79152524 [T/C] NR_047001 POU4F1-AS1 Silent exm1073656 13 79176527 [T/C] NR_047001,NM_006237 POU4F1-AS1,POU4F1 EXON Silent,Missense_T95A exm2251554 13 79176618 [T/C] NR_047001,NM_006237 POU4F1-AS1,POU4F1 EXON Silent,Synonymous_V64V exm1073661 13 79176674 [A/G] NR_047001,NM_006237 POU4F1-AS1,POU4F1 EXON Silent,Missense_L46F exm1073675 13 79189986 [T/G] NR_047001,NM_024546 POU4F1-AS1,RNF219 EXON Silent,Missense_N637T exm1073680 13 79190137 [T/A] NR_047001,NM_024546 POU4F1-AS1,RNF219 EXON Silent,Missense_T587S exm1073685 13 79190219 [A/C] NR_047001,NM_024546 POU4F1-AS1,RNF219 EXON Silent,Missense_F559L exm1800576 13 79190334 [T/C] NR_047001,NM_024546 POU4F1-AS1,RNF219 EXON Silent,Missense_R521Q exm1073687 13 79190335 [A/G] NR_047001,NM_024546 POU4F1-AS1,RNF219 EXON Silent,Missense_R521W exm1073690 13 79190461 [T/C] NR_047001,NM_024546 POU4F1-AS1,RNF219 EXON Silent,Missense_D479N exm1073694 13 79190695 [T/C] NR_047001,NM_024546 POU4F1-AS1,RNF219 EXON Silent,Missense_S401G exm1073695 13 79190737 [A/G] NR_047001,NM_024546 POU4F1-AS1,RNF219 EXON Silent,Missense_P387S exm1073698 13 79190795 [T/A] NR_047001,NM_024546 POU4F1-AS1,RNF219 EXON Silent,Missense_E367D exm1073702 13 79190907 [T/C] NR_047001,NM_024546 POU4F1-AS1,RNF219 EXON Silent,Missense_S330N exm1073719 13 79191195 [T/C] NR_047001,NM_024546 POU4F1-AS1,RNF219 EXON Silent,Missense_N234S exm1073731 13 79213134 [T/G] NM_024546 RNF219 EXON Missense_K125Q exm1073738 13 79219000 [T/C] NM_024546 RNF219 EXON Missense_I69V exm1073746 13 79233230 [A/G] NM_024546 RNF219 EXON Missense_T9I exm-rs17070284 13 79359424 [T/C] exm-rs11838918 13 79410574 [T/C] NR_046869 LINC00331 Silent exm2267546 13 79417832 [A/G] exm-rs1218282 13 79455832 [T/C] exm2267547 13 79801863 [A/G] exm2260254 13 79817124 [T/C] exm1073758 13 79896507 [C/G] NM_022118 RBM26 EXON Missense_E944Q exm1073761 13 79908484 [C/G] NM_022118 RBM26 EXON Missense_E912Q exm-rs9545076 13 79910118 [A/G] NM_022118 RBM26 Silent exm1073763 13 79911238 [A/G] NM_022118 RBM26 EXON Missense_A884V exm1073766 13 79911268 [T/C] NM_022118 RBM26 EXON Missense_S874N exm1073784 13 79916855 [C/G] NM_022118 RBM26 EXON Missense_V764L exm1073797 13 79928669 [A/C] NM_022118 RBM26 EXON Missense_V628F exm2251557 13 79932435 [T/G] NM_022118 RBM26 EXON Synonymous_R555R exm1073808 13 79932548 [T/C] NM_022118 RBM26 EXON Missense_N517S exm1073809 13 79932557 [T/C] NM_022118 RBM26 EXON Missense_N514S exm1073814 13 79933817 [G/C] NM_022118 RBM26 EXON Missense_K474N exm1073822 13 79940211 [A/G] NM_022118 RBM26 EXON Missense_P419S exm1073844 13 79945184 [C/G] NM_022118 RBM26 EXON Missense_R177P exm1073870 13 80094993 [T/C] NM_001161407,NM_019080 NDFIP2,NDFIP2 EXON Missense_P124S,Missense_P124S exm1073872 13 80095012 [T/C] NM_001161407,NM_019080 NDFIP2,NDFIP2 EXON Missense_P130L,Missense_P130L exm1073874 13 80095030 [T/C] NM_001161407,NM_019080 NDFIP2,NDFIP2 EXON Missense_A136V,Missense_A136V exm1073882 13 80107472 [A/G] NM_001161407,NM_019080 NDFIP2,NDFIP2 EXON Missense_G168S,Missense_G168S exm-rs2039553 13 80299722 [A/G] exm2272031 13 80580456 [T/C] exm-rs9574565 13 80668874 [T/C] exm-rs1359790 13 80717156 [A/G] exm2267548 13 80785028 [A/G] exm1073923 13 80911477 [T/C] NM_005842 SPRY2 EXON Missense_T122A exm1073937 13 80911782 [T/G] NM_005842 SPRY2 EXON Missense_D20A exm1073941 13 80911827 [A/G] NM_005842 SPRY2 EXON Missense_A5V exm-rs534870 13 80959207 [A/G] exm2271966 13 81260479 [T/C] exm2260256 13 81366251 [A/G] exm2267549 13 81973439 [A/G] exm2272032 13 82104522 [T/C] exm2271967 13 82502725 [T/C] exm2272033 13 82719059 [T/C] exm2267550 13 82986268 [A/G] exm2267551 13 83726434 [A/G] exm2267614 13 83963488 [A/G] exm2271968 13 84318052 [T/G] exm2272034 13 84434888 [T/C] exm1073961 13 84453901 [A/G] NM_052910 SLITRK1 EXON Missense_L581P exm1073965 13 84454105 [T/C] NM_052910 SLITRK1 EXON Missense_G513E exm1073966 13 84454124 [T/C] NM_052910 SLITRK1 EXON Missense_M507V exm2221845 13 84454228 [T/C] NM_052910 SLITRK1 EXON Missense_K472R exm1801063 13 84454570 [T/A] NM_052910 SLITRK1 EXON Missense_N358I exm1073980 13 84454655 [A/C] NM_052910 SLITRK1 EXON Missense_S330A exm2221848 13 84455205 [T/G] NM_052910 SLITRK1 EXON Missense_D146E exm2267552 13 84982296 [A/G] NR_046871 LINC00333 Silent exm-rs9546711 13 85054266 [A/G] NR_046871 LINC00333 Silent exm-rs5009567 13 85394807 [T/C] exm2267553 13 85555284 [A/G] exm2272035 13 85610544 [T/C] exm-rs7327483 13 85722171 [A/C] exm2271969 13 86229641 [T/C] exm1074021 13 86368225 [A/G] NM_032229 SLITRK6 EXON Missense_R807C exm1074022 13 86368231 [A/G] NM_032229 SLITRK6 EXON Missense_Y805H exm1074024 13 86368291 [C/G] NM_032229 SLITRK6 EXON Missense_D785H exm1801127 13 86368301 [A/C] NM_032229 SLITRK6 EXON Missense_Q781H exm1074032 13 86368449 [T/C] NM_032229 SLITRK6 EXON Missense_G732E exm1801128 13 86368461 [A/G] NM_032229 SLITRK6 EXON Missense_S728L exm1074045 13 86368741 [A/G] NM_032229 SLITRK6 EXON Missense_R635C exm1074047 13 86368782 [A/G] NM_032229 SLITRK6 EXON Missense_I621T exm1074048 13 86368806 [T/C] NM_032229 SLITRK6 EXON Missense_G613E exm1074053 13 86368947 [T/C] NM_032229 SLITRK6 EXON Missense_C566Y exm1801131 13 86368996 [T/C] NM_032229 SLITRK6 EXON Missense_G550R exm1074069 13 86369326 [A/C] NM_032229 SLITRK6 EXON Missense_L440V exm1074071 13 86369403 [T/C] NM_032229 SLITRK6 EXON Missense_Q414R exm1074078 13 86369589 [A/G] NM_032229 SLITRK6 EXON Missense_I352T exm2221849 13 86369794 [A/G] NM_032229 SLITRK6 EXON Missense_H284Y exm1074110 13 86370555 [C/G] NM_032229 SLITRK6 EXON Missense_S30C exm1074111 13 86370571 [A/G] NM_032229 SLITRK6 EXON Missense_L25F exm1074112 13 86370586 [A/G] NM_032229 SLITRK6 EXON Missense_S20P exm2267615 13 86632597 [A/G] exm2267616 13 86973244 [A/G] exm-rs9513670 13 87045827 [T/C] exm-rs4773460 13 87242857 [T/C] exm2251576 13 87590833 [T/G] exm2267554 13 87950318 [A/G] exm2272036 13 88169764 [T/C] NR_033829 MIR4500HG Silent exm1074124 13 88327834 [C/G] NM_015567 SLITRK5 EXON Missense_S64T exm1801161 13 88327997 [T/G] NM_015567 SLITRK5 EXON Missense_Q118H exm1074132 13 88328029 [A/G] NM_015567 SLITRK5 EXON Missense_R129Q exm1074134 13 88328086 [A/C] NM_015567 SLITRK5 EXON Missense_T148N exm2221852 13 88328240 [T/G] NM_015567 SLITRK5 EXON Missense_F199L exm1074165 13 88328857 [A/G] NM_015567 SLITRK5 EXON Missense_Q405R exm2251578 13 88328960 [T/C] NM_015567 SLITRK5 EXON Synonymous_H439H exm1074173 13 88329076 [A/G] NM_015567 SLITRK5 EXON Missense_Y478C exm1074176 13 88329151 [C/G] NM_015567 SLITRK5 EXON Missense_P503R exm1074182 13 88329228 [A/G] NM_015567 SLITRK5 EXON Missense_T529A exm1801177 13 88329472 [T/A] NM_015567 SLITRK5 EXON Missense_L610Q exm1074193 13 88329508 [A/C] NM_015567 SLITRK5 EXON Missense_T622K exm1074209 13 88329852 [T/G] NM_015567 SLITRK5 EXON Missense_A737S exm1074217 13 88330033 [A/C] NM_015567 SLITRK5 EXON Missense_Q797P exm1074226 13 88330206 [T/C] NM_015567 SLITRK5 EXON Missense_Y855H exm1801184 13 88330315 [T/C] NM_015567 SLITRK5 EXON Missense_P891L exm2251579 13 88330481 [T/C] NM_015567 SLITRK5 EXON Synonymous_L946L exm2267555 13 88585928 [A/G] exm2272037 13 88623302 [T/C] exm-rs7323893 13 88704706 [T/C] exm2271972 13 88910106 [T/C] exm-rs397548 13 89060738 [A/G] exm2264522 13 89545643 [A/C] exm2272038 13 89637081 [T/C] exm-rs314530 13 89921892 [A/C] exm2267617 13 90001033 [A/G] exm2251584 13 90209302 [T/C] NR_046991 LINC00353 Silent exm2264532 13 91049604 [A/C] exm2267556 13 91090534 [A/G] exm-rs8002779 13 92015977 [A/G] exm-rs7319045 13 92024574 [A/G] exm1074290 13 92101021 [T/A] NM_004466 GPC5 EXON Missense_D57V exm2276300 13 92101096 [T/G] NM_004466 GPC5 EXON Missense_R82L exm1074293 13 92101123 [T/C] NM_004466 GPC5 EXON Missense_T91M exm2260269 13 92188512 [A/G] NM_004466 GPC5 Silent exm-rs16946160 13 92203813 [A/G] NM_004466 GPC5 Silent exm1074302 13 92345566 [T/C] NM_004466 GPC5 EXON Missense_Y151H exm1074303 13 92345579 [T/C] NM_004466 GPC5 EXON Missense_A155V exm1074304 13 92345590 [A/C] NM_004466 GPC5 EXON Missense_P159T exm1074308 13 92345672 [T/G] NM_004466 GPC5 EXON Missense_S186I exm1074317 13 92345909 [T/C] NM_004466 GPC5 EXON Missense_A265V exm1074324 13 92346004 [T/C] NM_004466 GPC5 EXON Missense_R297W exm1074325 13 92346005 [A/G] NM_004466 GPC5 EXON Missense_R297Q exm1074334 13 92346101 [A/G] NM_004466 GPC5 EXON Missense_Q329R exm1074335 13 92346106 [T/C] NM_004466 GPC5 EXON Missense_H331Y exm1074347 13 92380901 [T/C] NM_004466 GPC5 EXON Missense_T379M exm-rs2352028 13 92445229 [T/C] NM_004466 GPC5 Silent exm2267559 13 92574422 [A/G] NM_004466 GPC5 Silent exm2272039 13 92667780 [T/C] NM_004466 GPC5 Silent exm-rs1413191 13 93213476 [T/C] NM_004466 GPC5 Silent exm2267560 13 93303777 [A/G] NM_004466 GPC5 Silent exm-rs17267292 13 93323146 [T/C] NM_004466 GPC5 Silent exm-rs9523762 13 93331886 [A/G] NM_004466 GPC5 Silent exm-rs1409264 13 93425688 [A/C] NM_004466 GPC5 Silent exm1074369 13 93518636 [G/C] NM_004466 GPC5 EXON Missense_E555Q exm2267619 13 93735200 [A/G] exm2267561 13 93751957 [A/G] exm1801280 13 93879719 [A/T] NM_005708 GPC6 EXON Missense_W4R exm1074374 13 93879723 [T/G] NM_005708 GPC6 EXON Missense_I5S exm1074378 13 93879773 [A/G] NM_005708 GPC6 EXON Missense_G22R exm-rs1116260 13 93890670 [A/G] NM_005708 GPC6 Silent exm-rs9561329 13 94011169 [A/G] NM_005708 GPC6 Silent exm-rs2762111 13 94051114 [T/C] NM_005708 GPC6 Silent exm2267562 13 94184165 [A/G] NM_005708 GPC6 Silent exm1074389 13 94197611 [T/C] NM_005708 GPC6 EXON Missense_L86F exm2272040 13 94258470 [T/C] NM_005708 GPC6 Silent exm-rs7995215 13 94408506 [A/G] NM_005708 GPC6 Silent exm1074403 13 94482797 [A/G] NM_005708,NR_046536 GPC6,GPC6-AS2 EXON Missense_K237R,Silent exm-rs7982823 13 94565251 [A/G] NM_005708 GPC6 Silent exm2251593 13 94803335 [T/C] NM_005708 GPC6 Silent exm1074409 13 94938716 [T/A] NM_005708 GPC6 EXON Missense_M331L exm1074421 13 95034677 [A/G] NM_005708 GPC6 EXON Missense_I388V exm1074424 13 95034749 [A/G] NM_005708 GPC6 EXON Missense_V412M exm1074478 13 95114265 [T/A] NM_001922,NM_001129889 DCT,DCT EXON Missense_R348W,Missense_R348W exm1074480 13 95114330 [T/C] NM_001922,NM_001129889 DCT,DCT EXON Missense_R326Q,Missense_R326Q exm1074481 13 95114331 [A/G] NM_001922,NM_001129889 DCT,DCT EXON Nonsense_R326X,Nonsense_R326X exm1074487 13 95114431 [T/G] NM_001922,NM_001129889 DCT,DCT EXON Nonsense_Y292X,Nonsense_Y292X exm1074490 13 95117926 [T/C] NM_001922,NM_001129889 DCT,DCT EXON Missense_R275Q,Missense_R275Q exm1074492 13 95117941 [A/G] NM_001922,NM_001129889 DCT,DCT EXON Missense_P270L,Missense_P270L exm2221861 13 95118870 [T/C] NM_001922,NM_001129889 DCT,DCT EXON Missense_G213E,Missense_G213E exm1074515 13 95121072 [A/G] NM_001922,NM_001129889 DCT,DCT EXON Nonsense_Q175X,Nonsense_Q175X exm1074517 13 95121086 [T/C] NM_001922,NM_001129889 DCT,DCT EXON Missense_N170S,Missense_N170S exm1074521 13 95121191 [T/G] NM_001922,NM_001129889 DCT,DCT EXON Missense_P135H,Missense_P135H exm1074524 13 95121233 [T/C] NM_001922,NM_001129889 DCT,DCT EXON Missense_K121R,Missense_K121R exm1074529 13 95121261 [A/C] NM_001922,NM_001129889 DCT,DCT EXON Missense_G112C,Missense_G112C exm1074539 13 95131385 [A/G] NM_001922,NM_001129889 DCT,DCT EXON Missense_P42L,Missense_P42L exm2271976 13 95178317 [T/G] exm2221862 13 95227043 [A/G] NM_014305 TGDS EXON Missense_P349L exm1801370 13 95243122 [A/C] NM_014305 TGDS EXON Missense_A100S exm1074571 13 95246151 [T/C] NM_014305 TGDS EXON Missense_M33V exm1074575 13 95248348 [T/C] NM_014305 TGDS EXON Missense_G15S exm1074585 13 95257726 [T/C] NM_180989 GPR180 EXON Missense_A76V exm1801390 13 95264643 [T/G] NM_180989 GPR180 EXON Synonymous_S168S exm1074598 13 95271443 [T/C] NM_180989 GPR180 EXON Missense_F182S exm1074602 13 95271496 [A/G] NM_180989 GPR180 EXON Missense_G200R exm1074611 13 95273408 [C/G] NM_180989 GPR180 EXON Missense_M271I exm1074615 13 95275387 [T/C] NM_180989 GPR180 EXON Missense_F307L exm1074616 13 95275394 [A/G] NM_180989 GPR180 EXON Missense_D309G exm1074618 13 95275517 [A/G] NM_180989 GPR180 EXON Missense_S350N exm2273509 13 95279467 [A/G] NM_180989 GPR180 EXON Silent exm2260273 13 95353882 [A/C] exm-rs9302001 13 95463392 [T/C] exm1074659 13 95673837 [T/C] NM_005845 ABCC4 EXON Missense_A1324T exm2251596 13 95674164 [T/C] NM_005845 ABCC4 Silent exm-rs4148546 13 95680285 [A/G] NM_005845 ABCC4 Silent exm1074680 13 95696012 [T/C] NM_005845 ABCC4 EXON Missense_R1220Q exm1074687 13 95696686 [C/G] NM_005845 ABCC4 EXON Missense_L1155V exm1074692 13 95705380 [A/G] NM_005845 ABCC4 EXON Missense_T1142M exm1074703 13 95715113 [T/C] NM_005845 ABCC4 EXON Missense_V1071I exm1074708 13 95724008 [T/C] NM_005845 ABCC4 EXON Missense_V1040M exm1074723 13 95727686 [G/C] NM_005845 ABCC4 EXON Missense_E936Q exm1074732 13 95727794 [A/C] NM_005845 ABCC4 EXON Missense_V900L exm1074738 13 95735502 [T/C] NM_005845 ABCC4 EXON Missense_V860M exm1074747 13 95768231 [T/C] NM_005845,NM_001105515 ABCC4,ABCC4 EXON Missense_K827R,Missense_K827R exm1074754 13 95813572 [T/C] NM_005845,NM_001105515 ABCC4,ABCC4 EXON Missense_V776I,Missense_V776I exm1074757 13 95815415 [T/C] NM_005845,NM_001105515 ABCC4,ABCC4 EXON Missense_E757K,Missense_E757K exm1074758 13 95815454 [T/C] NM_005845,NM_001105515 ABCC4,ABCC4 EXON Missense_M744V,Missense_M744V exm1801443 13 95818524 [A/G] NM_005845,NM_001105515 ABCC4,ABCC4 EXON Missense_P641L,Missense_P641L exm1074769 13 95818571 [T/C] NM_005845,NM_001105515 ABCC4,ABCC4 EXON Missense_I625M,Missense_I625M exm2251597 13 95822873 [A/G] NM_005845,NM_001105515 ABCC4,ABCC4 EXON Synonymous_C579C,Synonymous_C579C exm1074789 13 95839002 [T/C] NM_005845,NM_001105515 ABCC4,ABCC4 EXON Missense_E500K,Missense_E500K exm1074791 13 95839008 [T/C] NM_005845,NM_001105515 ABCC4,ABCC4 EXON Missense_K498E,Missense_K498E exm1074798 13 95839128 [T/C] NM_005845,NM_001105515 ABCC4,ABCC4 EXON Missense_V458M,Missense_V458M exm1074806 13 95847145 [A/G] NM_005845,NM_001105515 ABCC4,ABCC4 EXON Missense_P403L,Missense_P403L exm1074812 13 95858806 [T/C] NM_005845,NM_001105515 ABCC4,ABCC4 EXON Missense_V381I,Missense_V381I exm2251598 13 95858912 [T/C] NM_005845,NM_001105515 ABCC4,ABCC4 EXON Synonymous_V345V,Synonymous_V345V exm1074821 13 95859035 [A/C] NM_005845,NM_001105515 ABCC4,ABCC4 EXON Missense_K304N,Missense_K304N exm1074823 13 95860075 [T/C] NM_005845,NM_001105515 ABCC4,ABCC4 EXON Missense_N297S,Missense_N297S exm1074831 13 95861761 [A/G] NM_005845,NM_001105515 ABCC4,ABCC4 EXON Missense_L238F,Missense_L238F exm1074835 13 95861793 [G/C] NM_005845,NM_001105515 ABCC4,ABCC4 EXON Missense_A227G,Missense_A227G exm1074843 13 95863008 [A/C] NM_005845,NM_001105515 ABCC4,ABCC4 EXON Missense_G187W,Missense_G187W exm1074845 13 95863016 [A/G] NM_005845,NM_001105515 ABCC4,ABCC4 EXON Missense_M184T,Missense_M184T exm-rs1926657 13 95874956 [T/C] NM_005845,NM_001105515 ABCC4,ABCC4 Silent,Silent exm1074862 13 95899239 [A/G] NM_005845,NM_001105515 ABCC4,ABCC4 EXON Missense_T99M,Missense_T99M exm2221874 13 95899303 [C/G] NM_005845,NM_001105515 ABCC4,ABCC4 EXON Missense_P78A,Missense_P78A exm2272041 13 95942561 [T/C] NM_005845,NM_001105515 ABCC4,ABCC4 Silent,Silent exm2271978 13 96190232 [T/G] NM_182848,NM_001160100 CLDN10,CLDN10 Silent,Silent exm1074900 13 96212493 [A/G] NM_182848,NM_001160100,NM_006984 CLDN10,CLDN10,CLDN10 EXON Missense_D108N,Missense_D89N,Missense_D110N exm1074909 13 96229525 [T/G] NM_182848,NM_001160100,NM_006984 CLDN10,CLDN10,CLDN10 EXON Missense_A167S,Missense_A148S,Missense_A169S exm1074913 13 96230192 [A/G] NM_182848,NM_001160100,NM_006984 CLDN10,CLDN10,CLDN10 EXON Missense_R202Q,Missense_R183Q,Missense_R204Q exm1074935 13 96238288 [T/A] NM_198968,NM_014934 DZIP1,DZIP1 EXON Missense_I774N,Missense_I755N exm1074942 13 96239805 [A/G] NM_198968,NM_014934 DZIP1,DZIP1 EXON Missense_P736S,Missense_P717S exm1074946 13 96239849 [A/G] NM_198968,NM_014934 DZIP1,DZIP1 EXON Missense_A721V,Missense_A702V exm1074947 13 96239851 [G/C] NM_198968,NM_014934 DZIP1,DZIP1 EXON Missense_D720E,Missense_D701E exm1074955 13 96241445 [A/T] NM_198968,NM_014934 DZIP1,DZIP1 EXON Missense_M664L,Missense_M645L exm1074958 13 96242060 [A/G] NM_198968,NM_014934 DZIP1,DZIP1 EXON Missense_P657L,Missense_P638L exm1074959 13 96242096 [G/C] NM_198968,NM_014934 DZIP1,DZIP1 EXON Missense_R645T,Missense_R626T exm1074964 13 96242564 [A/C] NM_198968,NM_014934 DZIP1,DZIP1 EXON Missense_C604W,Missense_C585W exm1074965 13 96242572 [T/C] NM_198968,NM_014934 DZIP1,DZIP1 EXON Missense_V602I,Missense_V583I exm1074970 13 96242685 [T/C] NM_198968,NM_014934 DZIP1,DZIP1 EXON Missense_G564D,Missense_G545D exm1801531 13 96274674 [A/C] NM_198968,NM_014934 DZIP1,DZIP1 EXON Missense_D345Y,Missense_D345Y exm1075001 13 96282268 [T/C] NM_198968,NM_014934 DZIP1,DZIP1 EXON Missense_H262R,Missense_H262R exm1075005 13 96282366 [T/C] NM_198968,NM_014934 DZIP1,DZIP1 EXON Synonymous_E229E,Synonymous_E229E exm1075010 13 96293572 [C/G] NM_198968,NM_014934 DZIP1,DZIP1 EXON Missense_E192Q,Missense_E192Q exm1075013 13 96293631 [A/G] NM_198968,NM_014934 DZIP1,DZIP1 EXON Missense_T172M,Missense_T172M exm1075017 13 96293687 [G/C] NM_198968,NM_014934 DZIP1,DZIP1 EXON Missense_H153Q,Missense_H153Q exm1075019 13 96293727 [A/G] NM_198968,NM_014934 DZIP1,DZIP1 EXON Missense_S140L,Missense_S140L exm1075043 13 96375508 [A/G] NM_006260 DNAJC3 EXON Missense_D69G exm1801555 13 96377459 [T/C] NM_006260 DNAJC3 EXON Missense_L116F exm1075058 13 96409977 [A/G] NM_006260 DNAJC3 EXON Missense_R158H exm1075065 13 96415910 [A/G] NM_006260 DNAJC3 EXON Missense_T288A exm1075069 13 96416192 [G/C] NM_006260 DNAJC3 EXON Missense_E354Q exm1801574 13 96439375 [T/A] NM_006260 DNAJC3 EXON Missense_D441E exm1075083 13 96443198 [T/C] NM_006260 DNAJC3 EXON Missense_P477S exm1075093 13 96485204 [A/G] NM_020121 UGGT2 EXON Missense_L1502P exm1075106 13 96505874 [T/C] NM_020121 UGGT2 EXON Missense_I1403V exm1075109 13 96506585 [A/G] NM_020121 UGGT2 EXON Missense_R1385W exm1075110 13 96506596 [T/C] NM_020121 UGGT2 EXON Missense_H1381R exm1075112 13 96506647 [T/C] NM_020121 UGGT2 EXON Missense_R1364H exm1075126 13 96508566 [T/A] NM_020121 UGGT2 EXON Missense_Y1285F exm2277055 13 96508567 [A/G] NM_020121 UGGT2 EXON Missense_Y1285H exm1801594 13 96508579 [T/C] NM_020121 UGGT2 EXON Missense_M1281V exm1075129 13 96511850 [A/G] NM_020121 UGGT2 EXON Missense_F1274L exm1075130 13 96511868 [A/T] NM_020121 UGGT2 EXON Missense_N1268Y exm1075141 13 96515890 [A/T] NM_020121 UGGT2 EXON Missense_I1213F exm1075142 13 96515937 [A/T] NM_020121 UGGT2 EXON Missense_D1197V exm1075154 13 96529951 [T/C] NM_020121 UGGT2 Silent exm1075157 13 96530020 [A/C] NM_020121 UGGT2 EXON Missense_G1107C exm1075161 13 96530055 [T/C] NM_020121 UGGT2 EXON Missense_Q1095R exm1075180 13 96540204 [T/G] NM_020121 UGGT2 EXON Missense_M994L exm1075185 13 96546850 [A/G] NM_020121 UGGT2 EXON Nonsense_R941X exm1075186 13 96546880 [A/G] NM_020121 UGGT2 EXON Missense_L931F exm1075187 13 96546901 [A/T] NM_020121 UGGT2 EXON Missense_F924I exm1075193 13 96553101 [T/C] NM_020121 UGGT2 EXON Missense_K865R exm1075197 13 96555149 [T/C] NM_020121 UGGT2 EXON Missense_A821T exm1075198 13 96555207 [C/G] NM_020121 UGGT2 EXON Missense_Q801H exm1075201 13 96555295 [T/C] NM_020121 UGGT2 EXON Missense_R772Q exm1075211 13 96579380 [A/C] NM_020121 UGGT2 EXON Missense_V701G exm1075215 13 96579526 [T/C] NM_020121 UGGT2 EXON Missense_R681H exm1075218 13 96579574 [T/C] NM_020121 UGGT2 EXON Missense_R665H exm1075219 13 96579575 [A/G] NM_020121 UGGT2 EXON Missense_R665C exm1075224 13 96589266 [T/C] NM_020121 UGGT2 EXON Missense_H630R exm1075228 13 96592236 [T/C] NM_020121 UGGT2 EXON Missense_H596R exm1801634 13 96599295 [A/G] NM_020121 UGGT2 EXON Missense_V558A exm1075238 13 96601605 [T/C] NM_020121 UGGT2 EXON Missense_R480H exm1075239 13 96601606 [A/G] NM_020121 UGGT2 EXON Missense_R480C exm1075246 13 96622470 [A/G] NM_020121 UGGT2 EXON Missense_R411C exm1075249 13 96622483 [A/C] NM_020121 UGGT2 EXON Missense_M406I exm1075258 13 96624885 [T/C] NM_020121 UGGT2 EXON Missense_R378H exm1075260 13 96636082 [A/T] NM_020121 UGGT2 EXON Missense_R356S exm1075268 13 96638636 [A/C] NM_020121 UGGT2 EXON Missense_S328A exm1075269 13 96638651 [T/C] NM_020121 UGGT2 EXON Missense_A323T exm1075290 13 96665697 [A/G] NM_020121 UGGT2 EXON Missense_P175L exm1075293 13 96675361 [T/C] NM_020121 UGGT2 EXON Missense_V140I exm1075308 13 96705464 [A/C] NM_020121 UGGT2 EXON Missense_V35L exm1075318 13 96743177 [A/C] NM_153456 HS6ST3 EXON Missense_I21L exm1075332 13 96743511 [A/G] NM_153456 HS6ST3 EXON Missense_K132R exm1075335 13 96743538 [A/G] NM_153456 HS6ST3 EXON Missense_N141S exm2267563 13 96851824 [A/G] NM_153456 HS6ST3 Silent exm-rs4771946 13 97062424 [T/C] NM_153456 HS6ST3 Silent exm2251601 13 97087892 [T/G] NM_153456 HS6ST3 Silent exm2264534 13 97167152 [A/C] NM_153456 HS6ST3 Silent exm1075350 13 97484830 [A/G] NM_153456 HS6ST3 EXON Missense_K265R exm1075354 13 97484922 [T/C] NM_153456 HS6ST3 EXON Missense_R296W exm1075367 13 97485295 [A/T] NM_153456 HS6ST3 EXON Missense_H420L exm1075372 13 97485387 [A/C] NM_153456 HS6ST3 EXON Missense_K451Q exm1075378 13 97639000 [A/T] NM_080818 OXGR1 EXON Missense_X338C exm1075380 13 97639041 [A/G] NM_080818 OXGR1 EXON Missense_L325F exm1075384 13 97639121 [T/C] NM_080818 OXGR1 EXON Missense_N298S exm1075396 13 97639401 [T/C] NM_080818 OXGR1 EXON Missense_T205A exm2251603 13 97639750 [A/G] NM_080818 OXGR1 EXON Synonymous_F88F exm1075419 13 97639878 [T/C] NM_080818 OXGR1 EXON Missense_V46M exm-IND13-96437880 13 97639880 [I/D] NM_080818 OXGR1 EXON exm1075421 13 97639881 [C/G] NM_080818 OXGR1 EXON Missense_L45V exm2271980 13 97662381 [T/C] exm2260277 13 97835876 [T/C] exm1075439 13 97986540 [T/C] NM_144778,NM_207304 MBNL2,MBNL2 EXON Missense_S62L,Missense_S62L exm1075446 13 97995366 [A/G] NM_144778,NM_207304 MBNL2,MBNL2 EXON Missense_T146A,Missense_T146A exm-rs9556711 13 98016416 [A/G] NM_144778,NM_207304 MBNL2,MBNL2 Silent,Silent exm2251606 13 98289698 [A/G] exm2267565 13 98514241 [A/G] exm1075501 13 98637679 [A/G] NM_002271 IPO5 EXON Missense_R77K exm1075509 13 98637814 [C/G] NM_002271 IPO5 EXON Missense_S122T exm1075518 13 98642472 [T/C] NM_002271 IPO5 EXON Missense_P205L exm1075521 13 98642766 [T/C] NM_002271 IPO5 EXON Missense_A233V exm1075522 13 98642778 [T/C] NM_002271 IPO5 EXON Missense_P237L exm1075548 13 98655293 [T/C] NM_002271 IPO5 Silent exm1075552 13 98658527 [A/C] NM_002271 IPO5 EXON Missense_Q565H exm2251607 13 98667864 [A/G] NM_002271 IPO5 EXON Synonymous_E820E exm1075576 13 98670798 [A/G] NM_002271 IPO5 EXON Missense_I910M exm1075585 13 98671883 [T/C] NM_002271 IPO5 EXON Missense_T980I exm1075590 13 98672038 [A/C] NM_002271 IPO5 EXON Missense_N1032H exm1075595 13 98673368 [A/G] NM_002271 IPO5 EXON Missense_N1081S exm2267620 13 98688944 [A/G] exm1075619 13 98828727 [T/C] NM_001001715,NM_005766,NM_178861 FARP1,FARP1,RNF113B EXON Silent,Silent,Missense_R255K exm2221891 13 98828776 [T/C] NM_001001715,NM_005766,NM_178861 FARP1,FARP1,RNF113B EXON Silent,Silent,Missense_E239K exm1075623 13 98828877 [T/C] NM_001001715,NM_005766,NM_178861 FARP1,FARP1,RNF113B EXON Silent,Silent,Missense_C205Y exm1075625 13 98828892 [T/C] NM_001001715,NM_005766,NM_178861 FARP1,FARP1,RNF113B EXON Silent,Silent,Missense_K200R exm1075627 13 98828985 [A/G] NM_001001715,NM_005766,NM_178861 FARP1,FARP1,RNF113B EXON Silent,Silent,Missense_S169L exm1075629 13 98829034 [A/G] NM_001001715,NM_005766,NM_178861 FARP1,FARP1,RNF113B EXON Silent,Silent,Missense_Y153H exm1075631 13 98829061 [T/C] NM_001001715,NM_005766,NM_178861 FARP1,FARP1,RNF113B EXON Silent,Silent,Missense_D144N exm1075632 13 98829067 [C/G] NM_001001715,NM_005766,NM_178861 FARP1,FARP1,RNF113B EXON Silent,Silent,Missense_E142Q exm1075634 13 98829093 [T/C] NM_001001715,NM_005766,NM_178861 FARP1,FARP1,RNF113B EXON Silent,Silent,Missense_R133Q exm2251608 13 98829176 [T/C] NM_001001715,NM_005766,NM_178861 FARP1,FARP1,RNF113B EXON Silent,Silent,Synonymous_P105P exm1075641 13 98829217 [T/C] NM_001001715,NM_005766,NM_178861 FARP1,FARP1,RNF113B EXON Silent,Silent,Missense_V92M exm1075652 13 98829388 [T/G] NM_001001715,NM_005766,NM_178861 FARP1,FARP1,RNF113B EXON Silent,Silent,Missense_K35Q exm1075658 13 98865519 [T/C] NM_001001715,NM_005766 FARP1,FARP1 EXON Missense_P8L,Missense_P8L exm1075666 13 98896776 [T/C] NM_001001715,NM_005766 FARP1,FARP1 EXON Missense_T68I,Silent exm1075667 13 98896778 [A/G] NM_001001715,NM_005766 FARP1,FARP1 EXON Missense_G69S,Silent exm1075668 13 98896794 [A/G] NM_001001715,NM_005766 FARP1,FARP1 EXON Missense_G74D,Silent exm1075673 13 98896926 [C/G] NM_001001715,NM_005766 FARP1,FARP1 EXON Missense_A118G,Silent exm1075674 13 98896944 [A/G] NM_001001715,NM_005766 FARP1,FARP1 EXON Missense_E124G,Silent exm-rs4318070 13 98960762 [T/C] NM_005766 FARP1 Silent exm-rs688872 13 98966317 [A/G] NM_005766 FARP1 Silent exm-rs9584805 13 98994030 [A/G] NM_005766 FARP1 Silent exm1075680 13 98996101 [G/C] NM_005766 FARP1 EXON Missense_P86R exm1075697 13 99030142 [A/G] NM_005766 FARP1 EXON Missense_A156T exm2221893 13 99030148 [T/C] NM_005766 FARP1 EXON Missense_L158F exm1075711 13 99037097 [A/G] NM_005766 FARP1 EXON Missense_I204V exm1075719 13 99040653 [A/G] NM_005766 FARP1 EXON Missense_N259S exm1075720 13 99040677 [A/G] NM_005766 FARP1 EXON Missense_R267Q exm1075728 13 99042341 [T/C] NM_005766 FARP1 EXON Missense_V329A exm1075734 13 99047509 [A/G] NM_005766 FARP1 EXON Missense_G398E exm1075739 13 99047548 [A/G] NM_005766 FARP1 EXON Missense_R411Q exm2276301 13 99061642 [C/G] NM_005766 FARP1 EXON Missense_G489R exm1075747 13 99061646 [T/G] NM_005766 FARP1 EXON Missense_G490V exm1075769 13 99064267 [T/C] NM_005766 FARP1 EXON Missense_I602T exm1075770 13 99076833 [T/C] NM_005766 FARP1 EXON Missense_R612C exm1075774 13 99083304 [T/C] NM_005766 FARP1 EXON Missense_A638V exm1075776 13 99083321 [T/C] NM_005766 FARP1 EXON Missense_H644Y exm1075777 13 99083329 [C/G] NM_005766 FARP1 EXON Missense_E646D exm1075778 13 99083366 [T/C] NM_005766 FARP1 EXON Missense_R659W exm1075779 13 99083369 [T/C] NM_005766 FARP1 EXON Missense_R660W exm1075783 13 99083421 [A/C] NM_005766 FARP1 EXON Missense_P677Q exm1075792 13 99083499 [A/C] NM_005766 FARP1 EXON Missense_H703P exm1075801 13 99087886 [A/G] NM_005766 FARP1 EXON Missense_M734V exm1075803 13 99087930 [T/G] NM_005766 FARP1 EXON Missense_I748M exm1075827 13 99091449 [T/C] NM_005766 FARP1 EXON Missense_T811M exm1075841 13 99092453 [A/G] NM_005766 FARP1 EXON Missense_A865T exm1075844 13 99092944 [A/G] NM_005766 FARP1 EXON Missense_A884T exm1075848 13 99092998 [T/C] NM_005766 FARP1 EXON Missense_R902C exm1075868 13 99098962 [T/C] NM_005766 FARP1 EXON Missense_L983F exm1075875 13 99099021 [C/G] NM_005766 FARP1 EXON Missense_F1002L exm1075881 13 99100506 [T/C] NM_005766 FARP1 EXON Missense_R1025C exm1075909 13 99109438 [T/C] NM_001032296,NM_003576 STK24,STK24 EXON Missense_V415M,Missense_V427M exm1075931 13 99115945 [A/G] NM_001032296,NM_003576 STK24,STK24 EXON Missense_A310V,Missense_A322V exm1075935 13 99115978 [T/C] NM_001032296,NM_003576 STK24,STK24 EXON Missense_S299N,Missense_S311N exm-rs9517320 13 99126303 [A/C] NM_001032296,NM_003576 STK24,STK24 Silent,Silent exm2271981 13 99194125 [T/C] NM_001032296 STK24 Silent exm1802205 13 99337039 [T/C] NM_005073 SLC15A1 EXON Missense_N689S exm1075981 13 99337112 [T/C] NM_005073 SLC15A1 EXON Missense_I665V exm1075986 13 99338487 [A/G] NM_005073 SLC15A1 EXON Missense_I631T exm1075994 13 99339932 [T/C] NM_005073 SLC15A1 EXON Missense_N577S exm1075995 13 99339970 [C/G] NM_005073 SLC15A1 EXON Missense_S564R exm1076017 13 99356584 [A/G] NM_005073 SLC15A1 EXON Missense_R459C exm2251613 13 99356606 [A/C] NM_005073 SLC15A1 EXON Synonymous_T451T exm1076020 13 99356607 [T/G] NM_005073 SLC15A1 EXON Missense_T451N exm1076027 13 99358401 [G/C] NM_005073 SLC15A1 EXON Missense_G419A exm1076028 13 99358411 [C/G] NM_005073 SLC15A1 EXON Missense_V416L exm1076045 13 99362158 [T/C] NM_005073 SLC15A1 EXON Missense_R303K exm1076053 13 99368168 [G/C] NM_005073 SLC15A1 EXON Missense_Q229H exm1076059 13 99371556 [T/A] NM_005073 SLC15A1 EXON Missense_H192L exm1076076 13 99376167 [T/C] NM_005073 SLC15A1 EXON Missense_V122M exm1076078 13 99376180 [T/G] NM_005073 SLC15A1 EXON Missense_S117R exm1076079 13 99376181 [T/C] NM_005073 SLC15A1 EXON Missense_S117N exm1802249 13 99376185 [T/C] NM_005073 SLC15A1 EXON Missense_D116N exm1076081 13 99376188 [G/C] NM_005073 SLC15A1 EXON Missense_P115A exm2260279 13 99377948 [A/C] NM_005073 SLC15A1 Silent exm2274660 13 99378408 [A/G] NM_005073 SLC15A1 EXON Missense_L72F exm1076092 13 99378481 [T/C] NM_005073 SLC15A1 EXON Nonsense_W47X exm1076097 13 99378664 [T/C] NM_005073 SLC15A1 EXON Missense_V21I exm1076100 13 99378690 [T/C] NM_005073 SLC15A1 EXON Missense_Y12C exm1076113 13 99449468 [A/G] NM_001130048,NM_015296 DOCK9,DOCK9 EXON Missense_T2032M,Missense_T2033M exm1076114 13 99449489 [A/G] NM_001130048,NM_015296 DOCK9,DOCK9 EXON Missense_A2025V,Missense_A2026V exm1076118 13 99449717 [T/C] NM_001130048,NM_015296 DOCK9,DOCK9 EXON Missense_R1994H,Missense_R1995H exm1076122 13 99452615 [T/C] NM_001130048,NM_015296 DOCK9,DOCK9 EXON Missense_G1961S,Missense_G1962S exm1076129 13 99457286 [T/C] NM_001130048,NM_015296 DOCK9,DOCK9 EXON Nonsense_W1910X,Nonsense_W1911X exm1076134 13 99457413 [A/G] NM_001130048,NM_015296 DOCK9,DOCK9 EXON Missense_T1868M,Missense_T1869M exm1076135 13 99457431 [T/G] NM_001130048,NM_015296 DOCK9,DOCK9 EXON Missense_H1862P,Missense_H1863P exm1076145 13 99462473 [T/C] NM_001130048,NM_015296 DOCK9,DOCK9 EXON Missense_D1735N,Missense_D1736N exm1076148 13 99462510 [A/C] NM_001130048,NM_015296 DOCK9,DOCK9 EXON Missense_D1722E,Missense_D1723E exm1076179 13 99483928 [A/G] NM_001130048,NM_015296 DOCK9,DOCK9 EXON Missense_T1453I,Missense_T1454I exm1076188 13 99500879 [T/C] NM_001130048,NM_015296 DOCK9,DOCK9 EXON Missense_Q1343R,Missense_Q1344R exm1076192 13 99505689 [C/G] NM_001130048,NM_015296 DOCK9,DOCK9 EXON Missense_L1307V,Missense_L1308V exm1076194 13 99505698 [T/C] NM_001130048,NM_015296 DOCK9,DOCK9 EXON Missense_M1304V,Missense_M1305V exm1076221 13 99520490 [A/T] NM_001130048,NM_015296,NM_001130050,NM_001130049 DOCK9,DOCK9,DOCK9,DOCK9 EXON Missense_I1029F,Missense_I1030F,Missense_I1029F,Missense_I1030F exm1802331 13 99535329 [T/G] NM_001130048,NM_015296,NM_001130050,NM_001130049 DOCK9,DOCK9,DOCK9,DOCK9 EXON Missense_Q842H,Missense_Q843H,Missense_Q842H,Missense_Q843H exm1076268 13 99538856 [G/C] NM_001130048,NM_015296,NM_001130050,NM_001130049 DOCK9,DOCK9,DOCK9,DOCK9 EXON Missense_G689A,Missense_G690A,Missense_G689A,Missense_G690A exm1076276 13 99540649 [A/G] NM_001130048,NM_015296,NM_001130050,NM_001130049 DOCK9,DOCK9,DOCK9,DOCK9 EXON Missense_Y648H,Missense_Y649H,Missense_Y648H,Missense_Y649H exm1076280 13 99540726 [T/C] NM_001130048,NM_015296,NM_001130050,NM_001130049 DOCK9,DOCK9,DOCK9,DOCK9 EXON Missense_E622G,Missense_E623G,Missense_E622G,Missense_E623G exm1076296 13 99554149 [T/C] NM_001130048,NM_015296,NM_001130050,NM_001130049 DOCK9,DOCK9,DOCK9,DOCK9 EXON Missense_I462M,Missense_I463M,Missense_I462M,Missense_I463M exm1076298 13 99554562 [T/C] NM_001130048,NM_015296,NM_001130050,NM_001130049 DOCK9,DOCK9,DOCK9,DOCK9 EXON Missense_A454T,Missense_A455T,Missense_A454T,Missense_A455T exm1076299 13 99554570 [T/C] NM_001130048,NM_015296,NM_001130050,NM_001130049 DOCK9,DOCK9,DOCK9,DOCK9 EXON Missense_H451R,Missense_H452R,Missense_H451R,Missense_H452R exm1076300 13 99554621 [A/G] NM_001130048,NM_015296,NM_001130050,NM_001130049 DOCK9,DOCK9,DOCK9,DOCK9 EXON Missense_A434V,Missense_A435V,Missense_A434V,Missense_A435V exm2251615 13 99554955 [A/G] NM_001130048,NM_015296,NM_001130050,NM_001130049 DOCK9,DOCK9,DOCK9,DOCK9 Silent,Silent,Silent,Silent exm1076324 13 99574381 [A/G] NM_001130048,NM_015296,NM_001130050,NM_001130049 DOCK9,DOCK9,DOCK9,DOCK9 EXON Missense_S169F,Missense_S170F,Missense_S169F,Missense_S170F exm1076335 13 99582495 [T/C] NM_001130048,NM_015296,NM_001130050,NM_001130049 DOCK9,DOCK9,DOCK9,DOCK9 EXON Missense_R87Q,Missense_R88Q,Missense_R87Q,Missense_R88Q exm1076342 13 99630051 [A/G] NM_001130048,NM_015296,NM_001130050,NM_001130049 DOCK9,DOCK9,DOCK9,DOCK9 EXON Missense_P38L,Silent,Missense_P38L,Silent exm1076360 13 99853718 [T/C] NM_001144072,NM_177967,NR_026644 UBAC2,UBAC2,UBAC2 EXON Silent,Missense_M18T,Silent exm1076375 13 99896821 [T/C] NM_001144072,NM_177967,NR_026644,NR_039765 UBAC2,UBAC2,UBAC2,MIR548AN EXON Missense_I111T,Silent,Silent,Silent exm1076382 13 99907224 [T/C] NM_001144072,NM_177967,NR_026644,NR_039765,NM_001098200,NM_005292 UBAC2,UBAC2,UBAC2,MIR548AN,GPR18,GPR18 EXON Silent,Silent,Silent,Silent,Missense_M301I,Missense_M301I exm1076383 13 99907240 [T/C] NM_001144072,NM_177967,NR_026644,NR_039765,NM_001098200,NM_005292 UBAC2,UBAC2,UBAC2,MIR548AN,GPR18,GPR18 EXON Silent,Silent,Silent,Silent,Missense_R296Q,Missense_R296Q exm1076390 13 99907390 [A/G] NM_001144072,NM_177967,NR_026644,NR_039765,NM_001098200,NM_005292 UBAC2,UBAC2,UBAC2,MIR548AN,GPR18,GPR18 EXON Silent,Silent,Silent,Silent,Missense_M246T,Missense_M246T exm1076402 13 99907568 [T/G] NM_001144072,NM_177967,NR_026644,NR_039765,NM_001098200,NM_005292 UBAC2,UBAC2,UBAC2,MIR548AN,GPR18,GPR18 EXON Silent,Silent,Silent,Silent,Missense_L187M,Missense_L187M exm1076404 13 99907619 [T/C] NM_001144072,NM_177967,NR_026644,NR_039765,NM_001098200,NM_005292 UBAC2,UBAC2,UBAC2,MIR548AN,GPR18,GPR18 EXON Silent,Silent,Silent,Silent,Missense_A170T,Missense_A170T exm1076406 13 99907696 [T/C] NM_001144072,NM_177967,NR_026644,NR_039765,NM_001098200,NM_005292 UBAC2,UBAC2,UBAC2,MIR548AN,GPR18,GPR18 EXON Silent,Silent,Silent,Silent,Missense_G144E,Missense_G144E exm1076429 13 99947436 [T/C] NM_001144072,NM_177967,NR_026644,NR_039765,NM_004951 UBAC2,UBAC2,UBAC2,MIR548AN,GPR183 EXON Silent,Silent,Silent,Silent,Missense_M322V exm1076434 13 99947550 [A/G] NM_001144072,NM_177967,NR_026644,NR_039765,NM_004951 UBAC2,UBAC2,UBAC2,MIR548AN,GPR183 EXON Silent,Silent,Silent,Silent,Missense_H284Y exm1076436 13 99947599 [A/T] NM_001144072,NM_177967,NR_026644,NR_039765,NM_004951 UBAC2,UBAC2,UBAC2,MIR548AN,GPR183 EXON Silent,Silent,Silent,Silent,Missense_H267Q exm1076443 13 99947828 [T/G] NM_001144072,NM_177967,NR_026644,NR_039765,NM_004951 UBAC2,UBAC2,UBAC2,MIR548AN,GPR183 EXON Silent,Silent,Silent,Silent,Missense_K191T exm1076444 13 99947949 [T/C] NM_001144072,NM_177967,NR_026644,NR_039765,NM_004951 UBAC2,UBAC2,UBAC2,MIR548AN,GPR183 EXON Silent,Silent,Silent,Silent,Missense_V151M exm1076450 13 99948121 [T/C] NM_001144072,NM_177967,NR_026644,NR_039765,NM_004951 UBAC2,UBAC2,UBAC2,MIR548AN,GPR183 EXON Silent,Silent,Silent,Silent,Missense_M93I exm1076452 13 99948198 [A/G] NM_001144072,NM_177967,NR_026644,NR_039765,NM_004951 UBAC2,UBAC2,UBAC2,MIR548AN,GPR183 EXON Silent,Silent,Silent,Silent,Missense_L68F exm1076454 13 99948279 [C/G] NM_001144072,NM_177967,NR_026644,NR_039765,NM_004951 UBAC2,UBAC2,UBAC2,MIR548AN,GPR183 EXON Silent,Silent,Silent,Silent,Missense_V41L exm1076458 13 99948314 [A/G] NM_001144072,NM_177967,NR_026644,NR_039765,NM_004951 UBAC2,UBAC2,UBAC2,MIR548AN,GPR183 EXON Silent,Silent,Silent,Silent,Missense_T29M exm1076461 13 99966421 [A/C] NM_001144072,NM_177967,NR_026644,NR_039765 UBAC2,UBAC2,UBAC2,MIR548AN EXON Missense_L154M,Missense_L119M,Silent,Silent exm1802424 13 99970297 [A/G] NM_001144072,NM_177967,NR_026644,NR_039765 UBAC2,UBAC2,UBAC2,MIR548AN EXON Missense_I179V,Missense_I144V,Silent,Silent exm1802425 13 99992697 [A/G] NM_001144072,NM_177967,NR_026644,NR_039765 UBAC2,UBAC2,UBAC2,MIR548AN EXON Missense_S229G,Missense_S194G,Silent,Silent exm-rs7335046 13 100041738 [C/G] NR_039765 MIR548AN Silent exm2271982 13 100070457 [T/C] exm1076511 13 100181725 [T/C] NM_004800 TM9SF2 EXON Missense_T113M exm1076514 13 100181824 [T/C] NM_004800 TM9SF2 EXON Missense_M146T exm1076524 13 100191740 [A/C] NM_004800 TM9SF2 EXON Missense_P253T exm1076525 13 100191768 [T/C] NM_004800 TM9SF2 EXON Missense_S262F exm1789442 13 100201443 [T/C] NM_004800 TM9SF2 EXON Missense_T432I exm1076570 13 100425097 [T/G] NM_206808 CLYBL EXON Missense_D28Y exm2260155 13 100461219 [T/C] NM_206808 CLYBL Silent exm1076577 13 100511174 [A/C] NM_206808 CLYBL EXON Missense_E103D exm1076581 13 100511247 [A/G] NM_206808 CLYBL EXON Missense_V128I exm1076592 13 100517102 [T/C] NM_206808 CLYBL EXON Missense_P191S exm1076610 13 100518580 [A/G] NM_206808 CLYBL EXON Missense_I241V exm1076613 13 100518634 [T/C] NM_206808 CLYBL EXON Nonsense_R259X exm1076616 13 100518646 [A/G] NM_206808 CLYBL EXON Missense_A263T exm1076622 13 100523315 [A/T] NM_206808 CLYBL EXON Missense_K309M exm1076631 13 100543648 [T/C] NM_206808 CLYBL EXON Missense_T335I exm2221306 13 100543657 [A/G] NM_206808 CLYBL EXON Missense_K338R exm-rs7992643 13 100555038 [G/C] exm2267567 13 100597589 [A/G] exm1789473 13 100617641 [A/G] NM_033132 ZIC5 EXON Missense_T661M exm1076636 13 100617699 [T/C] NM_033132 ZIC5 EXON Missense_G642R exm1076639 13 100617794 [A/G] NM_033132 ZIC5 EXON Missense_S610F exm1076643 13 100617849 [T/C] NM_033132 ZIC5 EXON Missense_G592R exm2251286 13 100617994 [A/G] NM_033132 ZIC5 EXON Synonymous_H543H exm1076661 13 100622717 [T/C] NM_033132 ZIC5 EXON Missense_E405K exm1076699 13 100623834 [T/C] NM_033132 ZIC5 EXON Synonymous_R32R exm2251287 13 100623834 [T/C] NM_033132 ZIC5 EXON Synonymous_R32R exm1076700 13 100623847 [A/G] NM_033132 ZIC5 EXON Missense_P28L exm1076701 13 100623850 [A/G] NM_033132 ZIC5 EXON Missense_P27L exm2251288 13 100623882 [A/G] NM_033132 ZIC5 EXON Synonymous_V16V exm1076751 13 100755176 [T/C] NM_000282,NM_001127692,NM_001178004 PCCA,PCCA,PCCA EXON Missense_R49C,Silent,Missense_R49C exm1076759 13 100807260 [G/C] NM_000282,NM_001127692,NM_001178004 PCCA,PCCA,PCCA EXON Missense_V110L,Missense_V84L,Missense_V110L exm1076792 13 100925464 [C/G] NM_000282,NM_001127692,NM_001178004 PCCA,PCCA,PCCA EXON Missense_A310G,Missense_A284G,Missense_A310G exm1076794 13 100925472 [T/C] NM_000282,NM_001127692,NM_001178004 PCCA,PCCA,PCCA EXON Nonsense_R313X,Nonsense_R287X,Nonsense_R313X exm1076807 13 100953841 [C/G] NM_000282,NM_001127692,NM_001178004 PCCA,PCCA,PCCA EXON Missense_C398S,Missense_C372S,Missense_C398S exm1076819 13 100962156 [A/G] NM_000282,NM_001127692,NM_001178004 PCCA,PCCA,PCCA EXON Missense_I475V,Missense_I449V,Missense_I475V exm1076832 13 101020758 [T/G] NM_000282,NM_001127692,NM_001178004 PCCA,PCCA,PCCA EXON Missense_W559L,Missense_W533L,Missense_W559L exm1076834 13 101020827 [T/C] NM_000282,NM_001127692,NM_001178004 PCCA,PCCA,PCCA EXON Missense_S582L,Missense_S556L,Missense_S582L exm1076837 13 101077980 [A/G] NM_000282,NM_001127692,NM_001178004 PCCA,PCCA,PCCA EXON Missense_V614I,Missense_V588I,Missense_V614I exm1076844 13 101167775 [T/C] NM_000282,NM_001127692,NM_001178004 PCCA,PCCA,PCCA EXON Missense_P665L,Missense_P639L,Silent exm1076845 13 101167798 [G/C] NM_000282,NM_001127692,NM_001178004 PCCA,PCCA,PCCA EXON Missense_V673L,Missense_V647L,Silent exm1076853 13 101179989 [C/G] NM_000282,NM_001127692,NM_001178004 PCCA,PCCA,PCCA EXON Missense_A701P,Missense_A675P,Missense_A654P exm1076862 13 101184421 [A/G] NM_033110,NM_001195087 GGACT,GGACT EXON Missense_P142L,Missense_P142L exm2221308 13 101184451 [A/G] NM_033110,NM_001195087 GGACT,GGACT EXON Missense_P132L,Missense_P132L exm2221309 13 101186056 [T/C] NM_033110,NM_001195087 GGACT,GGACT EXON Silent,Silent exm1076871 13 101257309 [C/G] NM_032813,NM_001079669 TMTC4,TMTC4 EXON Missense_T741S,Missense_T722S exm1076876 13 101258621 [T/C] NM_032813,NM_001079669 TMTC4,TMTC4 EXON Missense_G709S,Missense_G690S exm1076877 13 101258623 [T/C] NM_032813,NM_001079669 TMTC4,TMTC4 EXON Missense_H708R,Missense_H689R exm1076886 13 101264695 [A/G] NM_032813,NM_001079669 TMTC4,TMTC4 EXON Missense_M674T,Missense_M655T exm1076887 13 101264696 [T/C] NM_032813,NM_001079669 TMTC4,TMTC4 EXON Missense_M674V,Missense_M655V exm1076896 13 101266669 [A/G] NM_032813,NM_001079669 TMTC4,TMTC4 EXON Missense_R618C,Missense_R599C exm2221310 13 101266671 [T/C] NM_032813,NM_001079669 TMTC4,TMTC4 EXON Missense_N617S,Missense_N598S exm1076902 13 101277847 [T/C] NM_032813,NM_001079669 TMTC4,TMTC4 EXON Missense_R593Q,Missense_R574Q exm1789573 13 101278046 [T/G] NM_032813,NM_001079669 TMTC4,TMTC4 EXON Missense_Q563K,Missense_Q544K exm1076913 13 101287085 [C/G] NM_032813,NM_001079669 TMTC4,TMTC4 EXON Missense_L494V,Missense_L475V exm1076918 13 101287138 [T/C] NM_032813,NM_001079669 TMTC4,TMTC4 EXON Missense_C476Y,Missense_C457Y exm1076919 13 101287147 [A/G] NM_032813,NM_001079669 TMTC4,TMTC4 EXON Missense_T473M,Missense_T454M exm1076927 13 101287340 [T/C] NM_032813,NM_001079669 TMTC4,TMTC4 EXON Missense_V438I,Missense_V419I exm1076934 13 101287421 [T/C] NM_032813,NM_001079669 TMTC4,TMTC4 EXON Missense_V411I,Missense_V392I exm1076935 13 101288786 [T/C] NM_032813,NM_001079669 TMTC4,TMTC4 EXON Missense_R401K,Missense_R382K exm1076938 13 101288864 [A/G] NM_032813,NM_001079669 TMTC4,TMTC4 EXON Missense_I375T,Missense_I356T exm1076945 13 101288976 [T/G] NM_032813,NM_001079669 TMTC4,TMTC4 EXON Missense_N338H,Missense_N319H exm1076957 13 101289878 [C/G] NM_032813,NM_001079669 TMTC4,TMTC4 EXON Missense_V305L,Missense_V286L exm1076961 13 101289950 [T/C] NM_032813,NM_001079669 TMTC4,TMTC4 EXON Missense_G281S,Missense_G262S exm1076968 13 101294563 [T/C] NM_032813,NM_001079669 TMTC4,TMTC4 EXON Missense_N215D,Missense_N196D exm2251290 13 101315224 [A/G] NM_032813,NM_001079669 TMTC4,TMTC4 EXON Synonymous_T182T,Synonymous_T163T exm1076976 13 101315256 [T/C] NM_032813,NM_001079669 TMTC4,TMTC4 EXON Missense_A172T,Missense_A153T exm1076979 13 101315285 [T/A] NM_032813,NM_001079669 TMTC4,TMTC4 EXON Missense_H162L,Missense_H143L exm1076984 13 101315340 [T/C] NM_032813,NM_001079669 TMTC4,TMTC4 EXON Missense_V144I,Missense_V125I exm1076989 13 101316488 [T/C] NM_032813,NM_001079669 TMTC4,TMTC4 EXON Missense_V108I,Missense_V89I exm1076998 13 101320872 [T/G] NM_032813,NM_001079669 TMTC4,TMTC4 EXON Missense_D60E,Missense_D41E exm1077000 13 101320979 [T/C] NM_032813,NM_001079669 TMTC4,TMTC4 EXON Missense_T25A,Missense_T6A exm2251292 13 101375663 [A/G] NR_047687 NALCN-AS1 Silent exm2272044 13 101453470 [T/C] NR_047687 NALCN-AS1 Silent exm-rs9554742 13 101596542 [A/G] NR_047687 NALCN-AS1 Silent exm1077011 13 101707799 [A/G] NR_047687,NM_052867 NALCN-AS1,NALCN EXON Silent,Missense_R1689W exm-rs2044117 13 101708310 [A/G] NR_047687,NM_052867 NALCN-AS1,NALCN Silent,Silent exm1789608 13 101710337 [G/C] NR_047687,NM_052867 NALCN-AS1,NALCN EXON Silent,Missense_D1659E exm2276303 13 101710337 [A/G] NR_047687,NM_052867 NALCN-AS1,NALCN EXON Silent,Synonymous_D1659D exm1077022 13 101712245 [T/G] NM_052867 NALCN EXON Missense_N1610K exm1077067 13 101742315 [T/G] NM_052867 NALCN EXON Missense_A1091E exm1077076 13 101753139 [G/C] NM_052867 NALCN EXON Missense_R1053T exm1077108 13 101763027 [A/C] NM_052867 NALCN EXON Missense_H769Q exm1077109 13 101763029 [A/G] NM_052867 NALCN EXON Missense_H769Y exm1077112 13 101763504 [T/C] NM_052867 NALCN EXON Missense_V756M exm1077113 13 101763528 [T/C] NM_052867 NALCN EXON Missense_A748T exm2264523 13 101795160 [A/C] NM_052867 NALCN Silent exm1077140 13 101797150 [A/G] NM_052867 NALCN EXON Missense_I646T exm1077163 13 101881803 [T/C] NM_052867 NALCN EXON Missense_I523V exm2272045 13 102033686 [T/C] NM_052867 NALCN Silent exm1077199 13 102047617 [A/C] NM_052867 NALCN EXON Missense_V70L exm1789707 13 102047650 [T/C] NM_052867 NALCN EXON Missense_M59V exm1077201 13 102051375 [T/C] NM_052867 NALCN EXON Missense_K35E exm2251294 13 102105247 [A/G] NM_004791,NM_001271755,NM_001271754 ITGBL1,ITGBL1,ITGBL1 EXON Synonymous_L21L,Synonymous_L21L,Silent exm1077211 13 102106391 [A/G] NM_004791,NM_001271755,NM_001271754 ITGBL1,ITGBL1,ITGBL1 EXON Missense_G86R,Missense_G86R,Silent exm-rs10467272 13 102143632 [A/G] NM_004791,NM_001271755,NM_001271754,NM_001271756 ITGBL1,ITGBL1,ITGBL1,ITGBL1 Silent,Silent,Silent,Silent exm1077217 13 102220121 [A/G] NM_004791,NM_001271755,NM_001271754,NM_001271756 ITGBL1,ITGBL1,ITGBL1,ITGBL1 EXON Missense_T130A,Silent,Silent,Missense_T37A exm1077223 13 102220193 [T/G] NM_004791,NM_001271755,NM_001271754,NM_001271756 ITGBL1,ITGBL1,ITGBL1,ITGBL1 EXON Missense_A154S,Silent,Missense_A13S,Missense_A61S exm1077236 13 102235608 [T/C] NM_004791,NM_001271755,NM_001271754,NM_001271756 ITGBL1,ITGBL1,ITGBL1,ITGBL1 EXON Missense_P257L,Missense_P208L,Missense_P116L,Missense_P164L exm2271984 13 102236780 [T/C] NM_004791,NM_001271755,NM_001271754,NM_001271756 ITGBL1,ITGBL1,ITGBL1,ITGBL1 Silent,Silent,Silent,Silent exm1077245 13 102250542 [T/C] NM_004791,NM_001271755,NM_001271754,NM_001271756 ITGBL1,ITGBL1,ITGBL1,ITGBL1 EXON Missense_A303V,Missense_A254V,Missense_A162V,Missense_A210V exm1077252 13 102345004 [A/T] NM_004791,NM_001271755,NM_001271754,NM_001271756 ITGBL1,ITGBL1,ITGBL1,ITGBL1 EXON Missense_E362V,Missense_E313V,Missense_E221V,Missense_E269V exm1077259 13 102359129 [T/C] NM_004791,NM_001271755,NM_001271754,NM_001271756 ITGBL1,ITGBL1,ITGBL1,ITGBL1 EXON Missense_R386C,Missense_R337C,Missense_R245C,Missense_R293C exm1077261 13 102359175 [T/C] NM_004791,NM_001271755,NM_001271754,NM_001271756 ITGBL1,ITGBL1,ITGBL1,ITGBL1 EXON Missense_P401L,Missense_P352L,Missense_P260L,Missense_P308L exm1077301 13 102521110 [T/C] NM_175929,NM_004115 FGF14,FGF14 EXON Missense_I130V,Missense_I125V exm1077314 13 102568872 [A/C] NM_175929,NM_004115 FGF14,FGF14 EXON Silent,Missense_G42C exm1077316 13 102568896 [T/C] NM_175929,NM_004115 FGF14,FGF14 EXON Silent,Missense_S34G exm2271985 13 102959556 [T/C] NM_175929,NR_036486 FGF14,FGF14-IT1 Silent,Silent exm2251297 13 103130876 [T/C] exm2272046 13 103187140 [T/C] exm1077373 13 103286325 [A/G] NM_003291 TPP2 EXON Missense_I424V exm1077381 13 103288598 [A/G] NM_003291 TPP2 EXON Missense_V512I exm1077393 13 103290607 [A/G] NM_003291 TPP2 EXON Missense_A619T exm1077415 13 103298652 [A/G] NM_003291 TPP2 EXON Missense_S801N exm1077443 13 103309488 [A/G] NM_003291 TPP2 EXON Missense_E1012G exm1077452 13 103317204 [A/G] NM_003291 TPP2 EXON Missense_I1087M exm1077454 13 103317239 [A/G] NM_003291 TPP2 EXON Missense_K1099R exm1077459 13 103326722 [A/C] NM_003291 TPP2 EXON Missense_Q1141P exm1077466 13 103328746 [A/G] NM_003291 TPP2 EXON Missense_N1214S exm1077476 13 103338494 [T/C] NM_001010977 METTL21C EXON Missense_S228G exm1077479 13 103338608 [T/C] NM_001010977 METTL21C EXON Missense_V190I exm1077483 13 103338676 [A/G] NM_001010977 METTL21C EXON Missense_V167A exm1077486 13 103339307 [A/G] NM_001010977 METTL21C EXON Missense_I128T exm1077489 13 103339363 [C/G] NM_001010977 METTL21C EXON Missense_L109F exm1077494 13 103343183 [T/C] NM_001010977 METTL21C EXON Missense_G88R exm1077499 13 103343230 [G/C] NM_001010977 METTL21C EXON Missense_R72P exm1077503 13 103343308 [T/C] NM_001010977 METTL21C EXON Missense_N46S exm1077508 13 103346806 [C/G] NM_001010977 METTL21C EXON Missense_G15R exm1077530 13 103382660 [A/G] NM_001146197 CCDC168 EXON Missense_V6796A exm2221322 13 103382850 [T/G] NM_001146197 CCDC168 EXON Missense_H6733N exm1077541 13 103383254 [T/C] NM_001146197 CCDC168 EXON Missense_R6598Q exm1077544 13 103383417 [T/C] NM_001146197 CCDC168 EXON Missense_K6544E exm1077548 13 103383497 [T/C] NM_001146197 CCDC168 EXON Missense_N6517S exm1077549 13 103383524 [T/G] NM_001146197 CCDC168 EXON Missense_E6508A exm1077550 13 103383557 [A/G] NM_001146197 CCDC168 EXON Missense_T6497I exm1077557 13 103383792 [A/G] NM_001146197 CCDC168 EXON Missense_H6419Y exm1077561 13 103383951 [T/C] NM_001146197 CCDC168 EXON Missense_D6366N exm2221323 13 103383959 [A/T] NM_001146197 CCDC168 EXON Missense_V6363D exm1077577 13 103384712 [A/G] NM_001146197 CCDC168 EXON Missense_T6112M exm1077580 13 103384824 [A/G] NM_001146197 CCDC168 EXON Missense_R6075C exm1077583 13 103385015 [A/G] NM_001146197 CCDC168 EXON Missense_L6011P exm1077585 13 103385064 [T/C] NM_001146197 CCDC168 EXON Missense_K5995E exm1077589 13 103385299 [A/C] NM_001146197 CCDC168 EXON Missense_F5916L exm1077590 13 103385309 [A/G] NM_001146197 CCDC168 EXON Missense_V5913A exm1077593 13 103385534 [T/C] NM_001146197 CCDC168 EXON Missense_R5838Q exm1077600 13 103385798 [T/C] NM_001146197 CCDC168 EXON Missense_N5750S exm1077612 13 103386116 [G/C] NM_001146197 CCDC168 EXON Missense_R5644T exm1077642 13 103387043 [T/C] NM_001146197 CCDC168 EXON Missense_R5335Q exm1077643 13 103387196 [A/G] NM_001146197 CCDC168 EXON Missense_P5284L exm1077646 13 103387430 [A/G] NM_001146197 CCDC168 EXON Missense_S5206F exm1077653 13 103387667 [A/G] NM_001146197 CCDC168 EXON Missense_S5127L exm1077660 13 103387831 [T/G] NM_001146197 CCDC168 EXON Missense_S5072R exm1077665 13 103388015 [C/G] NM_001146197 CCDC168 EXON Missense_G5011A exm1077668 13 103388184 [A/G] NM_001146197 CCDC168 EXON Missense_C4955R exm1077670 13 103388220 [A/G] NM_001146197 CCDC168 EXON Missense_S4943P exm1077677 13 103388378 [T/C] NM_001146197 CCDC168 EXON Missense_G4890D exm1077682 13 103388700 [T/C] NM_001146197 CCDC168 EXON Missense_A4783T exm1077689 13 103388877 [A/G] NM_001146197 CCDC168 EXON Missense_P4724S exm1077690 13 103388880 [T/C] NM_001146197 CCDC168 EXON Missense_M4723V exm1077696 13 103389072 [A/G] NM_001146197 CCDC168 EXON Missense_P4659S exm1077697 13 103389158 [T/A] NM_001146197 CCDC168 EXON Missense_M4630K exm1077698 13 103389164 [T/G] NM_001146197 CCDC168 EXON Missense_K4628T exm1077699 13 103389306 [A/G] NM_001146197 CCDC168 EXON Nonsense_R4581X exm1077700 13 103389321 [A/G] NM_001146197 CCDC168 EXON Missense_C4576R exm1077707 13 103389656 [A/G] NM_001146197 CCDC168 EXON Missense_L4464S exm1077708 13 103389885 [T/G] NM_001146197 CCDC168 EXON Missense_K4388Q exm1077714 13 103390083 [T/C] NM_001146197 CCDC168 EXON Missense_G4322S exm1077715 13 103390086 [T/C] NM_001146197 CCDC168 EXON Missense_E4321K exm1077721 13 103390332 [T/C] NM_001146197 CCDC168 EXON Missense_E4239K exm1077723 13 103390386 [A/C] NM_001146197 CCDC168 EXON Missense_A4221S exm1077729 13 103390626 [T/C] NM_001146197 CCDC168 EXON Missense_I4141V exm1077731 13 103390701 [A/T] NM_001146197 CCDC168 EXON Missense_Y4116N exm1077750 13 103391634 [T/C] NM_001146197 CCDC168 EXON Missense_V3805I exm1077757 13 103392127 [T/A] NM_001146197 CCDC168 EXON Missense_K3640N exm2221330 13 103392152 [C/G] NM_001146197 CCDC168 EXON Missense_S3632C exm1077762 13 103392562 [A/C] NM_001146197 CCDC168 EXON Missense_M3495I exm1077766 13 103392709 [T/A] NM_001146197 CCDC168 EXON Missense_D3446E exm1077770 13 103392741 [A/G] NM_001146197 CCDC168 EXON Missense_R3436W exm2221331 13 103393055 [A/G] NM_001146197 CCDC168 EXON Missense_S3331F exm1077777 13 103393330 [T/A] NM_001146197 CCDC168 EXON Missense_D3239E exm1077783 13 103393731 [T/C] NM_001146197 CCDC168 EXON Missense_V3106M exm1077791 13 103394003 [A/G] NM_001146197 CCDC168 EXON Missense_T3015I exm1077795 13 103394247 [T/A] NM_001146197 CCDC168 EXON Missense_I2934F exm1077798 13 103394421 [T/C] NM_001146197 CCDC168 EXON Missense_K2876E exm1077800 13 103394544 [A/G] NM_001146197 CCDC168 EXON Nonsense_Q2835X exm1077802 13 103394613 [T/G] NM_001146197 CCDC168 EXON Missense_T2812P exm1077812 13 103395065 [G/C] NM_001146197 CCDC168 EXON Missense_P2661R exm1077818 13 103395359 [T/G] NM_001146197 CCDC168 EXON Missense_K2563T exm1077820 13 103395383 [A/G] NM_001146197 CCDC168 EXON Missense_F2555S exm1077822 13 103395425 [T/C] NM_001146197 CCDC168 EXON Missense_R2541H exm1077829 13 103395789 [G/C] NM_001146197 CCDC168 EXON Missense_L2420V exm1077830 13 103395819 [T/C] NM_001146197 CCDC168 EXON Missense_G2410R exm1077849 13 103396553 [T/C] NM_001146197 CCDC168 EXON Missense_R2165Q exm1077850 13 103396628 [T/C] NM_001146197 CCDC168 EXON Missense_R2140Q exm1077851 13 103396716 [G/C] NM_001146197 CCDC168 EXON Missense_E2111Q exm1077852 13 103396724 [A/G] NM_001146197 CCDC168 EXON Missense_S2108F exm1077853 13 103396769 [T/C] NM_001146197 CCDC168 EXON Missense_R2093H exm1077858 13 103397009 [T/G] NM_001146197 CCDC168 EXON Missense_K2013T exm1077859 13 103397030 [T/C] NM_001146197 CCDC168 EXON Missense_R2006H exm1077864 13 103397280 [T/C] NM_001146197 CCDC168 EXON Missense_D1923N exm1077865 13 103397387 [T/G] NM_001146197 CCDC168 EXON Missense_Q1887P exm1077867 13 103397537 [T/C] NM_001146197 CCDC168 EXON Missense_R1837H exm1077868 13 103397583 [C/G] NM_001146197 CCDC168 EXON Missense_A1822P exm1077875 13 103397937 [T/G] NM_001146197 CCDC168 EXON Missense_N1704H exm1789818 13 103397981 [G/C] NM_001146197 CCDC168 EXON Missense_T1689R exm1077882 13 103398261 [T/C] NM_001146197 CCDC168 EXON Missense_T1596A exm1077883 13 103398339 [T/C] NM_001146197 CCDC168 EXON Missense_D1570N exm1077885 13 103398453 [A/C] NM_001146197 CCDC168 EXON Missense_G1532C exm2221339 13 103399222 [T/G] NM_001146197 CCDC168 EXON Nonsense_C1275X exm1077901 13 103399313 [A/G] NM_001146197 CCDC168 EXON Missense_T1245I exm1077908 13 103399573 [T/A] NM_001146197 CCDC168 EXON Missense_N1158K exm1077909 13 103399761 [T/G] NM_001146197 CCDC168 EXON Missense_P1096T exm1077913 13 103399837 [A/C] NM_001146197 CCDC168 EXON Missense_R1070S exm1077916 13 103400033 [A/G] NM_001146197 CCDC168 EXON Missense_L1005P exm1077917 13 103400052 [T/C] NM_001146197 CCDC168 EXON Missense_G999R exm1077920 13 103400198 [T/G] NM_001146197 CCDC168 EXON Missense_K950T exm1077922 13 103400217 [T/C] NM_001146197 CCDC168 EXON Missense_I944V exm1077934 13 103400729 [A/G] NM_001146197 CCDC168 EXON Missense_P773L exm1077942 13 103400903 [A/G] NM_001146197 CCDC168 EXON Missense_I715T exm1077946 13 103401192 [T/C] NM_001146197 CCDC168 EXON Missense_I619V exm1077952 13 103401480 [T/C] NM_001146197 CCDC168 EXON Missense_N523D exm1077958 13 103401929 [A/G] NM_001146197 CCDC168 EXON Missense_V373A exm2221344 13 103402547 [A/G] NM_001146197 CCDC168 EXON Missense_L167S exm1077964 13 103402638 [A/G] NM_001146197 CCDC168 EXON Missense_W137R exm1077967 13 103410782 [T/C] NM_001146197 CCDC168 EXON Missense_I96V exm1077972 13 103410914 [T/A] NM_001146197 CCDC168 EXON Missense_C82S exm1077983 13 103418924 [A/T] NM_138779 TEX30 EXON Missense_L171M exm1077984 13 103419622 [C/G] NM_138779 TEX30 Silent exm1077991 13 103419820 [T/C] NM_138779 TEX30 EXON Missense_M103V exm1078005 13 103438652 [T/C] NM_024089 KDELC1 EXON Missense_R474Q exm1078019 13 103443396 [T/C] NM_024089 KDELC1 EXON Missense_R313H exm1078027 13 103443665 [T/C] NM_024089 KDELC1 EXON Missense_K263R exm1078043 13 103446084 [A/G] NM_024089 KDELC1 EXON Missense_P154L exm1078049 13 103449202 [T/C] NM_024089 KDELC1 EXON Missense_I114V exm2274664 13 103449222 [T/C] NM_024089 KDELC1 EXON Missense_Y107C exm1078064 13 103459624 [A/G] NM_017693,NM_001159596,NM_001204425 BIVM,BIVM,BIVM-ERCC5 EXON Missense_N3D,Silent,Missense_N3D exm1789863 13 103459774 [T/C] NM_017693,NM_001159596,NM_001204425 BIVM,BIVM,BIVM-ERCC5 EXON Missense_Y53H,Silent,Missense_Y53H exm1078071 13 103459861 [A/G] NM_017693,NM_001159596,NM_001204425 BIVM,BIVM,BIVM-ERCC5 EXON Missense_I82V,Silent,Missense_I82V exm1078074 13 103459885 [T/C] NM_017693,NM_001159596,NM_001204425 BIVM,BIVM,BIVM-ERCC5 EXON Missense_R90C,Silent,Missense_R90C exm1078079 13 103459958 [G/C] NM_017693,NM_001159596,NM_001204425 BIVM,BIVM,BIVM-ERCC5 EXON Missense_T114S,Silent,Missense_T114S exm1078105 13 103492007 [T/C] NM_017693,NM_001159596,NM_001204425 BIVM,BIVM,BIVM-ERCC5 EXON Missense_I435T,Missense_I213T,Missense_I435T exm1078110 13 103492093 [T/C] NM_017693,NM_001159596,NM_001204425 BIVM,BIVM,BIVM-ERCC5 EXON Missense_R464C,Missense_R242C,Missense_R464C exm1078111 13 103492133 [T/C] NM_017693,NM_001159596,NM_001204425 BIVM,BIVM,BIVM-ERCC5 EXON Missense_S477L,Missense_S255L,Missense_S477L exm1078120 13 103498672 [T/C] NM_001204425,NM_000123 BIVM-ERCC5,ERCC5 EXON Silent,Missense_P19L exm1078130 13 103504513 [A/G] NM_001204425,NM_000123 BIVM-ERCC5,ERCC5 EXON Missense_R499H,Missense_R45H exm1078147 13 103506690 [A/G] NM_001204425,NM_000123 BIVM-ERCC5,ERCC5 EXON Missense_V599I,Missense_V145I exm1078152 13 103510638 [A/G] NM_001204425,NM_000123 BIVM-ERCC5,ERCC5 EXON Missense_H635R,Missense_H181R exm1078156 13 103510688 [G/C] NM_001204425,NM_000123 BIVM-ERCC5,ERCC5 EXON Missense_P652A,Missense_P198A exm1078157 13 103510736 [T/C] NM_001204425,NM_000123 BIVM-ERCC5,ERCC5 EXON Missense_R668C,Missense_R214C exm1078158 13 103510737 [A/G] NM_001204425,NM_000123 BIVM-ERCC5,ERCC5 EXON Missense_R668H,Missense_R214H exm1078159 13 103510762 [A/G] NM_001204425,NM_000123 BIVM-ERCC5,ERCC5 EXON Missense_M676I,Missense_M222I exm1078162 13 103513944 [A/G] NM_001204425,NM_000123 BIVM-ERCC5,ERCC5 EXON Missense_M708V,Missense_M254V exm1078163 13 103513951 [A/G] NM_001204425,NM_000123 BIVM-ERCC5,ERCC5 EXON Missense_Q710R,Missense_Q256R exm1078165 13 103513972 [A/G] NM_001204425,NM_000123 BIVM-ERCC5,ERCC5 EXON Missense_R717Q,Missense_R263Q exm1789897 13 103513995 [T/G] NM_001204425,NM_000123 BIVM-ERCC5,ERCC5 EXON Missense_G725C,Missense_G271C exm1789898 13 103514060 [A/G] NM_001204425,NM_000123 BIVM-ERCC5,ERCC5 EXON Missense_I746M,Missense_I292M exm1078168 13 103514431 [C/G] NM_001204425,NM_000123 BIVM-ERCC5,ERCC5 EXON Missense_S765C,Missense_S311C exm1078174 13 103514529 [A/G] NM_001204425,NM_000123 BIVM-ERCC5,ERCC5 EXON Missense_T798A,Missense_T344A exm1078181 13 103514626 [T/C] NM_001204425,NM_000123 BIVM-ERCC5,ERCC5 EXON Missense_A830V,Missense_A376V exm1078188 13 103514758 [A/G] NM_001204425,NM_000123 BIVM-ERCC5,ERCC5 EXON Missense_R874H,Missense_R420H exm1078193 13 103514827 [C/G] NM_001204425,NM_000123 BIVM-ERCC5,ERCC5 EXON Missense_T897S,Missense_T443S exm1078195 13 103514870 [A/C] NM_001204425,NM_000123 BIVM-ERCC5,ERCC5 EXON Missense_H911Q,Missense_H457Q exm1078204 13 103515021 [T/G] NM_001204425,NM_000123 BIVM-ERCC5,ERCC5 EXON Missense_V962F,Missense_V508F exm1078209 13 103515070 [T/C] NM_001204425,NM_000123 BIVM-ERCC5,ERCC5 EXON Missense_P978L,Missense_P524L exm1078210 13 103515085 [G/C] NM_001204425,NM_000123 BIVM-ERCC5,ERCC5 EXON Missense_C983S,Missense_C529S exm1078218 13 103515210 [T/C] NM_001204425,NM_000123 BIVM-ERCC5,ERCC5 EXON Missense_P1025S,Missense_P571S exm1078219 13 103515267 [A/G] NM_001204425,NM_000123 BIVM-ERCC5,ERCC5 EXON Missense_V1044I,Missense_V590I exm1078220 13 103515288 [G/C] NM_001204425,NM_000123 BIVM-ERCC5,ERCC5 EXON Missense_V1051L,Missense_V597L exm1078221 13 103515301 [A/G] NM_001204425,NM_000123 BIVM-ERCC5,ERCC5 EXON Missense_E1055G,Missense_E601G exm1078223 13 103515379 [A/C] NM_001204425,NM_000123 BIVM-ERCC5,ERCC5 EXON Missense_A1081E,Missense_A627E exm1078228 13 103518101 [A/G] NM_001204425,NM_000123 BIVM-ERCC5,ERCC5 EXON Missense_Q1134R,Missense_Q680R exm1078235 13 103518693 [A/G] NM_001204425,NM_000123 BIVM-ERCC5,ERCC5 EXON Missense_A1215T,Missense_A761T exm1078252 13 103520549 [A/G] NM_001204425,NM_000123 BIVM-ERCC5,ERCC5 EXON Missense_A1328T,Missense_A874T exm1078254 13 103520565 [A/G] NM_001204425,NM_000123 BIVM-ERCC5,ERCC5 EXON Missense_N1333S,Missense_N879S exm1078260 13 103524669 [A/G] NM_001204425,NM_000123 BIVM-ERCC5,ERCC5 EXON Missense_E1388K,Missense_E934K exm1078264 13 103524687 [A/G] NM_001204425,NM_000123 BIVM-ERCC5,ERCC5 EXON Missense_V1394M,Missense_V940M exm1078268 13 103524746 [A/C] NM_001204425,NM_000123 BIVM-ERCC5,ERCC5 EXON Missense_R1413S,Missense_R959S exm1078272 13 103525640 [A/G] NM_001204425,NM_000123 BIVM-ERCC5,ERCC5 EXON Missense_T1425A,Missense_T971A exm1078280 13 103527718 [A/G] NM_001204425,NM_000123 BIVM-ERCC5,ERCC5 EXON Missense_R1463H,Missense_R1009H exm2221351 13 103527730 [A/G] NM_001204425,NM_000123 BIVM-ERCC5,ERCC5 EXON Missense_Q1467R,Missense_Q1013R exm1078281 13 103527798 [A/G] NM_001204425,NM_000123 BIVM-ERCC5,ERCC5 EXON Missense_A1490T,Missense_A1036T exm1078282 13 103527849 [C/G] NM_001204425,NM_000123 BIVM-ERCC5,ERCC5 EXON Missense_G1507R,Missense_G1053R exm1078285 13 103527930 [C/G] NM_001204425,NM_000123 BIVM-ERCC5,ERCC5 EXON Missense_G1534R,Missense_G1080R exm1078286 13 103527931 [A/G] NM_001204425,NM_000123 BIVM-ERCC5,ERCC5 EXON Missense_G1534E,Missense_G1080E exm1078289 13 103528002 [C/G] NM_001204425,NM_000123 BIVM-ERCC5,ERCC5 EXON Missense_D1558H,Missense_D1104H exm1078292 13 103528048 [T/C] NM_001204425,NM_000123 BIVM-ERCC5,ERCC5 EXON Missense_A1573V,Missense_A1119V exm1078295 13 103528119 [A/G] NM_001204425,NM_000123 BIVM-ERCC5,ERCC5 EXON Missense_A1597T,Missense_A1143T exm1078306 13 103528246 [A/C] NM_001204425,NM_000123 BIVM-ERCC5,ERCC5 EXON Missense_K1639T,Missense_K1185T exm1078316 13 103701648 [A/G] NM_000452 SLC10A2 EXON Missense_F304L exm1789943 13 103701689 [A/G] NM_000452 SLC10A2 EXON Missense_P290L exm1078319 13 103701690 [A/G] NM_000452 SLC10A2 EXON Missense_P290S exm1078322 13 103701723 [T/A] NM_000452 SLC10A2 EXON Missense_T279S exm1078328 13 103701773 [A/G] NM_000452 SLC10A2 EXON Missense_T262M exm1078329 13 103701788 [A/G] NM_000452 SLC10A2 EXON Missense_T257M exm1078332 13 103701792 [A/G] NM_000452 SLC10A2 EXON Nonsense_R256X exm1078343 13 103703713 [T/C] NM_000452 SLC10A2 EXON Missense_A219T exm1078359 13 103705044 [A/C] NM_000452 SLC10A2 EXON Missense_S171A exm1078364 13 103710615 [T/A] NM_000452 SLC10A2 EXON Synonymous_I165I exm1078372 13 103710685 [A/G] NM_000452 SLC10A2 EXON Missense_P142L exm1078373 13 103710695 [T/C] NM_000452 SLC10A2 EXON Missense_G139R exm1078385 13 103718308 [T/C] NM_000452 SLC10A2 EXON Missense_V98I exm1078392 13 103718370 [T/C] NM_000452 SLC10A2 EXON Missense_G77E exm1078396 13 103718403 [T/C] NM_000452 SLC10A2 EXON Nonsense_W66X exm1078397 13 103718406 [A/G] NM_000452 SLC10A2 EXON Missense_P65L exm1789959 13 103718468 [G/C] NM_000452 SLC10A2 EXON Missense_L44F exm1078407 13 103718520 [T/C] NM_000452 SLC10A2 EXON Missense_N27S exm1078410 13 103718575 [C/G] NM_000452 SLC10A2 EXON Missense_D9H exm2271987 13 103831756 [T/C] exm-rs912969 13 103867104 [T/C] exm-rs1529276 13 103928007 [A/T] exm-rs4771450 13 103969491 [A/G] exm2267621 13 104040712 [A/G] exm2251301 13 104383255 [A/G] exm2272047 13 104780173 [T/G] exm2251302 13 104967115 [A/G] exm2267571 13 105328137 [A/G] exm2267622 13 105386176 [A/G] exm2267572 13 105782961 [A/G] exm1078416 13 106119446 [A/G] NR_040247,NM_001161814,NM_172370,NM_001161812 DAOA-AS1,DAOA,DAOA,DAOA EXON Silent,Silent,Missense_R30K,Silent exm1078418 13 106119492 [T/A] NR_040247,NM_001161814,NM_172370,NM_001161812 DAOA-AS1,DAOA,DAOA,DAOA Silent,Silent,Silent,Silent exm1078426 13 106124937 [A/G] NR_040247,NM_001161814,NM_172370,NM_001161812 DAOA-AS1,DAOA,DAOA,DAOA EXON Silent,Silent,Missense_K62E,Silent exm1078427 13 106124955 [A/G] NR_040247,NM_001161814,NM_172370,NM_001161812 DAOA-AS1,DAOA,DAOA,DAOA EXON Silent,Silent,Missense_G68S,Synonymous_T3T exm1078432 13 106142175 [T/G] NR_040247,NM_001161814,NM_172370,NM_001161812 DAOA-AS1,DAOA,DAOA,DAOA EXON Silent,Silent,Silent,Missense_K41N exm1078434 13 106142194 [A/G] NR_040247,NM_001161814,NM_172370,NM_001161812 DAOA-AS1,DAOA,DAOA,DAOA EXON Silent,Silent,Silent,Missense_G48S exm1078437 13 106142223 [A/G] NR_040247,NM_001161814,NM_172370,NM_001161812 DAOA-AS1,DAOA,DAOA,DAOA EXON Silent,Silent,Silent,Nonsense_W57X exm1078446 13 106142374 [G/C] NR_040247,NM_001161814,NM_172370,NM_001161812 DAOA-AS1,DAOA,DAOA,DAOA EXON Silent,Missense_Q65E,Missense_Q136E,Missense_Q108E exm2271988 13 106161587 [T/C] exm2267623 13 106266101 [A/G] exm2271989 13 106632499 [T/G] exm-rs4996815 13 106651661 [T/G] exm1078463 13 107145663 [T/C] NM_004093 EFNB2 EXON Missense_I243V exm2251307 13 107171744 [A/G] NM_004093 EFNB2 Silent exm1078478 13 107196344 [T/C] NM_018011 ARGLU1 EXON Synonymous_X274X exm2251308 13 107196344 [T/C] NM_018011 ARGLU1 EXON Synonymous_X274X exm1078481 13 107211797 [T/C] NM_018011 ARGLU1 EXON Missense_A186T exm1078486 13 107220041 [A/G] NM_018011 ARGLU1 EXON Missense_S76L exm2260163 13 107474586 [A/G] exm2251309 13 107721740 [T/C] exm-rs1927745 13 107780316 [A/G] exm1078507 13 107823044 [A/G] NM_001080396 FAM155A EXON Missense_V393A exm1078509 13 107823070 [T/A] NM_001080396 FAM155A EXON Missense_K384N exm2271991 13 108081712 [T/C] NM_001080396 FAM155A Silent exm2267625 13 108136716 [A/G] NM_001080396 FAM155A Silent exm-rs957788 13 108257220 [T/C] NM_001080396 FAM155A Silent exm1078533 13 108518527 [T/C] NM_001080396 FAM155A EXON Missense_G140S exm1078546 13 108518729 [G/C] NM_001080396 FAM155A EXON Missense_H72Q exm2267574 13 108658557 [A/G] exm-rs12871532 13 108668547 [T/C] exm2264536 13 108799306 [A/C] exm-rs10492664 13 108816225 [T/C] exm1078571 13 108861048 [T/C] NM_206937,NM_002312,NM_001098268 LIG4,LIG4,LIG4 EXON Missense_A857T,Missense_A857T,Missense_A857T exm1078572 13 108861068 [A/G] NM_206937,NM_002312,NM_001098268 LIG4,LIG4,LIG4 EXON Missense_A850V,Missense_A850V,Missense_A850V exm1078573 13 108861092 [T/G] NM_206937,NM_002312,NM_001098268 LIG4,LIG4,LIG4 EXON Missense_A842D,Missense_A842D,Missense_A842D exm1790035 13 108861099 [T/C] NM_206937,NM_002312,NM_001098268 LIG4,LIG4,LIG4 EXON Missense_I840V,Missense_I840V,Missense_I840V exm1078578 13 108861192 [G/C] NM_206937,NM_002312,NM_001098268 LIG4,LIG4,LIG4 EXON Missense_P809A,Missense_P809A,Missense_P809A exm1078581 13 108861228 [A/C] NM_206937,NM_002312,NM_001098268 LIG4,LIG4,LIG4 EXON Missense_A797S,Missense_A797S,Missense_A797S exm1078583 13 108861261 [T/C] NM_206937,NM_002312,NM_001098268 LIG4,LIG4,LIG4 EXON Missense_E786K,Missense_E786K,Missense_E786K exm1078590 13 108861395 [T/C] NM_206937,NM_002312,NM_001098268 LIG4,LIG4,LIG4 EXON Missense_R741H,Missense_R741H,Missense_R741H exm1078596 13 108861601 [G/C] NM_206937,NM_002312,NM_001098268 LIG4,LIG4,LIG4 EXON Missense_S672R,Missense_S672R,Missense_S672R exm1078603 13 108861645 [T/C] NM_206937,NM_002312,NM_001098268 LIG4,LIG4,LIG4 EXON Missense_I658V,Missense_I658V,Missense_I658V exm1078611 13 108861819 [T/C] NM_206937,NM_002312,NM_001098268 LIG4,LIG4,LIG4 EXON Missense_E600K,Missense_E600K,Missense_E600K exm1078615 13 108861878 [T/C] NM_206937,NM_002312,NM_001098268 LIG4,LIG4,LIG4 EXON Missense_R580Q,Missense_R580Q,Missense_R580Q exm1790045 13 108861914 [T/C] NM_206937,NM_002312,NM_001098268 LIG4,LIG4,LIG4 EXON Missense_D568G,Missense_D568G,Missense_D568G exm1078631 13 108862121 [A/G] NM_206937,NM_002312,NM_001098268 LIG4,LIG4,LIG4 EXON Missense_V499A,Missense_V499A,Missense_V499A exm1078636 13 108862280 [G/C] NM_206937,NM_002312,NM_001098268 LIG4,LIG4,LIG4 EXON Missense_G446A,Missense_G446A,Missense_G446A exm1078653 13 108862719 [T/C] NM_206937,NM_002312,NM_001098268 LIG4,LIG4,LIG4 EXON Missense_D300N,Missense_D300N,Missense_D300N exm1790051 13 108862790 [T/C] NM_206937,NM_002312,NM_001098268 LIG4,LIG4,LIG4 EXON Missense_G276D,Missense_G276D,Missense_G276D exm1078657 13 108862926 [A/G] NM_206937,NM_002312,NM_001098268 LIG4,LIG4,LIG4 EXON Missense_P231S,Missense_P231S,Missense_P231S exm1078658 13 108862931 [T/C] NM_206937,NM_002312,NM_001098268 LIG4,LIG4,LIG4 EXON Missense_H229R,Missense_H229R,Missense_H229R exm1078677 13 108863591 [A/G] NM_206937,NM_002312,NM_001098268 LIG4,LIG4,LIG4 EXON Missense_T9I,Missense_T9I,Missense_T9I exm1078678 13 108863604 [T/G] NM_206937,NM_002312,NM_001098268 LIG4,LIG4,LIG4 EXON Missense_Q5K,Missense_Q5K,Missense_Q5K exm1078679 13 108863609 [A/G] NM_206937,NM_002312,NM_001098268 LIG4,LIG4,LIG4 EXON Missense_A3V,Missense_A3V,Missense_A3V exm1078682 13 108881639 [A/C] NM_032859 ABHD13 EXON Missense_L25I exm1078684 13 108881712 [T/C] NM_032859 ABHD13 EXON Missense_I49T exm1078687 13 108881858 [T/C] NM_032859 ABHD13 EXON Missense_R98C exm1078688 13 108881859 [A/G] NM_032859 ABHD13 EXON Missense_R98H exm1078694 13 108882140 [T/C] NM_032859 ABHD13 EXON Missense_R192C exm1078695 13 108882209 [A/G] NM_032859 ABHD13 EXON Missense_V215M exm1078702 13 108922368 [T/C] NM_006573,NM_001145645 TNFSF13B,TNFSF13B EXON Missense_S42F,Missense_S42F exm1078708 13 108922475 [A/G] NM_006573,NM_001145645 TNFSF13B,TNFSF13B EXON Missense_S78G,Missense_S78G exm1078710 13 108922556 [A/G] NM_006573,NM_001145645 TNFSF13B,TNFSF13B EXON Missense_A105T,Missense_A105T exm2271992 13 109089409 [T/C] exm1078744 13 109365050 [A/G] NM_015011,NM_001198950 MYO16,MYO16 EXON Missense_V90I,Missense_V112I exm1078747 13 109379843 [A/G] NM_015011,NM_001198950 MYO16,MYO16 EXON Missense_N118S,Missense_N140S exm1078752 13 109438084 [A/T] NM_015011,NM_001198950 MYO16,MYO16 EXON Missense_D181E,Missense_D203E exm1078755 13 109445971 [A/G] NM_015011,NM_001198950 MYO16,MYO16 EXON Missense_D220N,Missense_D242N exm1078761 13 109472710 [A/T] NM_015011,NM_001198950 MYO16,MYO16 EXON Missense_M276K,Missense_M298K exm1078762 13 109472733 [A/G] NM_015011,NM_001198950 MYO16,MYO16 EXON Missense_V284M,Missense_V306M exm1078768 13 109475602 [A/G] NM_015011,NM_001198950 MYO16,MYO16 EXON Missense_D336G,Missense_D358G exm1078772 13 109475610 [A/G] NM_015011,NM_001198950 MYO16,MYO16 EXON Missense_V339I,Missense_V361I exm1078776 13 109496813 [T/C] NM_015011,NM_001198950 MYO16,MYO16 EXON Missense_M385T,Missense_M407T exm1078777 13 109496819 [A/G] NM_015011,NM_001198950 MYO16,MYO16 EXON Missense_S387N,Missense_S409N exm2251313 13 109504041 [A/G] NM_015011,NM_001198950 MYO16,MYO16 Silent,Silent exm1078786 13 109518568 [A/C] NM_015011,NM_001198950 MYO16,MYO16 EXON Missense_E446A,Missense_E468A exm1078789 13 109535415 [C/G] NM_015011,NM_001198950 MYO16,MYO16 EXON Missense_Q456H,Missense_Q478H exm1078798 13 109540790 [A/G] NM_015011,NM_001198950 MYO16,MYO16 EXON Missense_A520T,Missense_A542T exm1078803 13 109550367 [A/G] NM_015011,NM_001198950 MYO16,MYO16 EXON Missense_V533M,Missense_V555M exm1078811 13 109562437 [A/C] NM_015011,NM_001198950 MYO16,MYO16 EXON Missense_M600L,Missense_M622L exm1078812 13 109562479 [A/G] NM_015011,NM_001198950 MYO16,MYO16 EXON Missense_N614D,Missense_N636D exm1078813 13 109562497 [T/C] NM_015011,NM_001198950 MYO16,MYO16 EXON Missense_R620W,Missense_R642W exm2267626 13 109585285 [A/G] NM_015011,NM_001198950 MYO16,MYO16 Silent,Silent exm1790118 13 109610116 [A/G] NM_015011,NM_001198950 MYO16,MYO16 EXON Missense_R647Q,Missense_R669Q exm1078825 13 109614773 [A/G] NM_015011,NM_001198950 MYO16,MYO16 EXON Synonymous_V697V,Synonymous_V719V exm2274665 13 109661274 [A/G] NM_015011,NM_001198950 MYO16,MYO16 EXON Missense_M802I,Missense_M824I exm1078837 13 109661359 [C/G] NM_015011,NM_001198950 MYO16,MYO16 EXON Missense_P831A,Missense_P853A exm1078841 13 109672122 [A/C] NM_015011,NM_001198950 MYO16,MYO16 EXON Missense_N865H,Missense_N887H exm1078854 13 109704662 [A/G] NM_015011,NM_001198950 MYO16,MYO16 EXON Missense_V941M,Missense_V963M exm2221366 13 109707399 [T/A] NM_015011,NM_001198950 MYO16,MYO16 EXON Missense_L996F,Missense_L1018F exm1078865 13 109707457 [A/G] NM_015011,NM_001198950 MYO16,MYO16 EXON Missense_I1016V,Missense_I1038V exm1078875 13 109753162 [A/G] NM_015011,NM_001198950 MYO16,MYO16 EXON Missense_R1100H,Missense_R1122H exm1078877 13 109753188 [A/G] NM_015011,NM_001198950 MYO16,MYO16 EXON Missense_E1109K,Missense_E1131K exm1078882 13 109772728 [A/G] NM_015011,NM_001198950 MYO16,MYO16 EXON Missense_R1128Q,Missense_R1150Q exm1078886 13 109777503 [A/G] NM_015011,NM_001198950 MYO16,MYO16 EXON Missense_I1171M,Missense_I1193M exm1078887 13 109777535 [A/G] NM_015011,NM_001198950 MYO16,MYO16 EXON Missense_N1182S,Missense_N1204S exm1078894 13 109777655 [A/G] NM_015011,NM_001198950 MYO16,MYO16 EXON Missense_Y1222C,Missense_Y1244C exm1078900 13 109779646 [C/G] NM_015011,NM_001198950 MYO16,MYO16 EXON Missense_G1245R,Missense_G1267R exm1078901 13 109779652 [A/G] NM_015011,NM_001198950 MYO16,MYO16 EXON Missense_R1247G,Missense_R1269G exm1078902 13 109779685 [A/G] NM_015011,NM_001198950 MYO16,MYO16 EXON Missense_A1258T,Missense_A1280T exm1078908 13 109779782 [T/C] NM_015011,NM_001198950 MYO16,MYO16 EXON Missense_P1290L,Missense_P1312L exm1078930 13 109792825 [T/C] NM_015011,NM_001198950 MYO16,MYO16 EXON Missense_A1400V,Missense_A1422V exm1078975 13 109831898 [A/G] NM_015011,NM_001198950 MYO16,MYO16 EXON Missense_E1756K,Missense_E1778K exm1078977 13 109831917 [A/G] NM_015011,NM_001198950 MYO16,MYO16 EXON Missense_R1762Q,Missense_R1784Q exm1078978 13 109831944 [T/C] NM_015011,NM_001198950 MYO16,MYO16 EXON Missense_S1771L,Missense_S1793L exm1078981 13 109858975 [A/C] NM_015011,NM_001198950 MYO16,MYO16 EXON Missense_L1790I,Missense_L1812I exm1078987 13 109859071 [A/G] NM_015011,NM_001198950 MYO16,MYO16 EXON Missense_A1822T,Missense_A1844T exm2272048 13 110115817 [T/C] exm2271993 13 110130628 [T/C] exm1079001 13 110434418 [T/C] NM_003749 IRS2 EXON Missense_H1328R exm1079031 13 110435199 [T/C] NM_003749 IRS2 EXON Missense_D1068N exm1079033 13 110435231 [T/C] NM_003749 IRS2 EXON Missense_G1057D exm1079091 13 110436401 [T/C] NM_003749 IRS2 EXON Missense_S667N exm1079097 13 110436463 [A/G] NM_003749 IRS2 EXON Synonymous_N646N exm1079127 13 110437802 [A/C] NM_003749 IRS2 EXON Missense_V200G exm2267576 13 110446839 [A/G] exm1079187 13 110815830 [A/G] NM_001845 COL4A1 EXON Missense_M1410T exm1079200 13 110818590 [A/G] NM_001845 COL4A1 EXON Missense_P1337L exm1079203 13 110818598 [T/G] NM_001845 COL4A1 EXON Missense_Q1334H exm1079217 13 110822076 [C/G] NM_001845 COL4A1 EXON Missense_P1259R exm1079225 13 110822924 [A/G] NM_001845 COL4A1 EXON Missense_R1238C exm1079230 13 110823002 [A/T] NM_001845 COL4A1 EXON Missense_M1212L exm1790219 13 110828986 [G/C] NM_001845 COL4A1 EXON Missense_Q985H exm1079259 13 110829038 [T/C] NM_001845 COL4A1 EXON Missense_R968Q exm1079265 13 110830200 [G/C] NM_001845 COL4A1 EXON Missense_P902R exm1079267 13 110830258 [T/C] NM_001845 COL4A1 EXON Missense_V883I exm1079268 13 110830413 [C/G] NM_001845 COL4A1 EXON Missense_P875R exm1079269 13 110830467 [A/G] NM_001845 COL4A1 EXON Missense_S857L exm1079305 13 110838791 [C/G] NM_001845 COL4A1 EXON Missense_P613R exm1079306 13 110838809 [A/C] NM_001845 COL4A1 EXON Missense_G607V exm1079311 13 110838894 [T/C] NM_001845 COL4A1 EXON Missense_V579I exm1079312 13 110839486 [A/G] NM_001845 COL4A1 EXON Missense_P576L exm1079316 13 110839550 [T/G] NM_001845 COL4A1 EXON Missense_T555P exm1079320 13 110839625 [A/G] NM_001845 COL4A1 EXON Missense_P530S exm1079326 13 110844632 [A/C] NM_001845 COL4A1 Silent exm1079328 13 110845188 [A/G] NM_001845 COL4A1 EXON Missense_P485L exm1079338 13 110850912 [T/C] NM_001845 COL4A1 EXON Missense_R396Q exm1079348 13 110855918 [G/C] NM_001845 COL4A1 EXON Missense_G332R exm1079354 13 110857746 [A/G] NM_001845 COL4A1 EXON Missense_P304L exm1079390 13 110862526 [T/C] NM_001845 COL4A1 EXON Missense_G168R exm1079401 13 110864256 [A/G] NM_001845 COL4A1 EXON Missense_P134L exm2277046 13 110866309 [T/C] NM_001845 COL4A1 EXON Synonymous_Q66Q exm1079420 13 110866346 [A/G] NM_001845 COL4A1 EXON Missense_P54L exm1079428 13 110959356 [C/G] NM_001845 COL4A1 EXON Missense_V7L exm2276305 13 110960420 [G/C] NM_001846 COL4A2 EXON Missense_L17V exm-rs4773144 13 110960712 [A/G] NM_001846 COL4A2 Silent exm-rs3809346 13 110960943 [A/G] NM_001846 COL4A2 Silent exm2260167 13 111005475 [T/C] NM_001846 COL4A2 Silent exm-rs7319311 13 111030578 [A/G] NM_001846 COL4A2 Silent exm1079448 13 111080851 [T/G] NM_001846 COL4A2 EXON Missense_G133V exm2271994 13 111082058 [T/C] NM_001846 COL4A2 Silent exm1079453 13 111082301 [T/C] NM_001846 COL4A2 EXON Missense_R183W exm1079457 13 111082772 [T/G] NM_001846 COL4A2 EXON Missense_V192F exm1079462 13 111082914 [T/A] NM_001846 COL4A2 EXON Missense_H203L exm2221373 13 111090359 [T/G] NM_001846 COL4A2 EXON Missense_G279V exm1079488 13 111098183 [A/G] NM_001846 COL4A2 EXON Missense_R322Q exm1079493 13 111098229 [A/G] NM_001846 COL4A2 EXON Synonymous_K337K exm2221374 13 111102687 [A/G] NM_001846 COL4A2 EXON Missense_K409E exm1079505 13 111102718 [T/C] NM_001846 COL4A2 EXON Missense_A419V exm2251317 13 111102770 [T/C] NM_001846 COL4A2 EXON Synonymous_P436P exm1079522 13 111109725 [A/G] NM_001846 COL4A2 EXON Missense_A459T exm1079544 13 111114519 [A/C] NM_001846 COL4A2 EXON Missense_T552K exm1079560 13 111118376 [A/G] NM_001846 COL4A2 EXON Missense_V669I exm1079561 13 111118382 [A/G] NM_001846 COL4A2 EXON Missense_G671S exm1079571 13 111121565 [T/C] NM_001846 COL4A2 EXON Synonymous_G699G exm1079572 13 111121570 [A/G] NM_001846 COL4A2 EXON Missense_K701R exm1079574 13 111121620 [T/C] NM_001846 COL4A2 EXON Missense_P718S exm1079577 13 111121653 [A/G] NM_001846 COL4A2 EXON Missense_G729R exm1079601 13 111134946 [A/G] NM_001846 COL4A2 EXON Missense_E948K exm1079606 13 111137368 [A/G] NM_001846 COL4A2 EXON Missense_A1007T exm1079617 13 111138145 [G/C] NM_001846 COL4A2 EXON Missense_P1057A exm1079635 13 111143601 [A/G] NM_001846 COL4A2 EXON Missense_E1123G exm1079639 13 111143681 [A/C] NM_001846 COL4A2 EXON Missense_Q1150K exm1079672 13 111155473 [T/C] NM_001846,NR_046583 COL4A2,COL4A2-AS1 EXON Missense_R1295W,Silent exm1079673 13 111155510 [G/C] NM_001846,NR_046583 COL4A2,COL4A2-AS1 EXON Missense_P1307R,Silent exm1079681 13 111155754 [T/C] NM_001846,NR_046583 COL4A2,COL4A2-AS1 EXON Missense_M1355T,Silent exm1079701 13 111156609 [A/C] NM_001846,NR_046583 COL4A2,COL4A2-AS1 EXON Missense_E1467A,Silent exm1079706 13 111158815 [A/G] NM_001846,NR_046583 COL4A2,COL4A2-AS1 EXON Missense_V1486I,Silent exm1079713 13 111158893 [T/C] NM_001846,NR_046583 COL4A2,COL4A2-AS1 EXON Missense_W1512R,Silent exm1079724 13 111160399 [T/C] NM_001846,NR_046583 COL4A2,COL4A2-AS1 EXON Missense_A1571V,Silent exm1079739 13 111164315 [T/C] NM_001846 COL4A2 EXON Missense_S1639L exm1079747 13 111164384 [A/G] NM_001846 COL4A2 EXON Missense_R1662H exm1079748 13 111164386 [A/G] NM_001846 COL4A2 EXON Missense_G1663S exm1079750 13 111164389 [A/C] NM_001846 COL4A2 EXON Missense_T1664P exm1790425 13 111164404 [A/G] NM_001846 COL4A2 EXON Missense_A1669T exm2274666 13 111164432 [T/C] NM_001846 COL4A2 EXON Missense_T1678I exm1079755 13 111164467 [A/G] NM_001846 COL4A2 EXON Missense_A1690T exm2273511 13 111164563 [T/C] NM_001846 COL4A2 EXON Silent exm1079766 13 111176107 [T/C] NM_017817 RAB20 EXON Missense_M204V exm1079773 13 111176316 [T/C] NM_017817 RAB20 EXON Missense_N134S exm1079780 13 111176355 [T/C] NM_017817 RAB20 EXON Missense_G121E exm1079795 13 111213781 [C/G] NM_017817 RAB20 EXON Missense_R29P exm2251319 13 111268063 [G/C] NM_001242883,NM_001242882,NR_040103,NR_040104,NM_001242881,NM_018210 CARKD,CARKD,CARKD,CARKD,CARKD,CARKD EXON Silent,Silent,Silent,Silent,Synonymous_A14A,Synonymous_A14A exm1079827 13 111279829 [T/C] NM_001242883,NM_001242882,NR_040103,NR_040104,NM_001242881,NM_018210 CARKD,CARKD,CARKD,CARKD,CARKD,CARKD EXON Missense_R34W,Missense_R126W,Silent,Silent,Missense_R144W,Missense_R144W exm1079829 13 111279844 [A/G] NM_001242883,NM_001242882,NR_040103,NR_040104,NM_001242881,NM_018210 CARKD,CARKD,CARKD,CARKD,CARKD,CARKD EXON Missense_V39I,Missense_V131I,Silent,Silent,Missense_V149I,Missense_V149I exm1079830 13 111279847 [A/G] NM_001242883,NM_001242882,NR_040103,NR_040104,NM_001242881,NM_018210 CARKD,CARKD,CARKD,CARKD,CARKD,CARKD EXON Missense_V40I,Missense_V132I,Silent,Silent,Missense_V150I,Missense_V150I exm1079844 13 111287067 [T/C] NM_001242883,NM_001242882,NR_040103,NR_040104,NM_001242881,NM_018210 CARKD,CARKD,CARKD,CARKD,CARKD,CARKD EXON Missense_R89W,Missense_R181W,Silent,Silent,Missense_R199W,Missense_R199W exm1079847 13 111287827 [A/G] NM_001242883,NM_001242882,NR_040103,NR_040104,NM_001242881,NM_018210 CARKD,CARKD,CARKD,CARKD,CARKD,CARKD EXON Missense_M112V,Missense_M204V,Silent,Silent,Missense_M222V,Missense_M222V exm1079865 13 111290667 [T/C] NM_001242883,NM_001242882,NR_040103,NR_040104,NM_001242881,NM_018210 CARKD,CARKD,CARKD,CARKD,CARKD,CARKD EXON Silent,Silent,Silent,Silent,Silent,Synonymous_C324C exm1079867 13 111290689 [A/G] NM_001242883,NM_001242882,NR_040103,NR_040104,NM_001242881,NM_018210 CARKD,CARKD,CARKD,CARKD,CARKD,CARKD EXON Silent,Silent,Silent,Silent,Silent,Missense_T332A exm1079872 13 111290803 [T/C] NM_001242883,NM_001242882,NR_040103,NR_040104,NM_001242881,NM_018210 CARKD,CARKD,CARKD,CARKD,CARKD,CARKD EXON Synonymous_H214H,Synonymous_H306H,Silent,Silent,Synonymous_H324H,Missense_R370W exm1079874 13 111290824 [T/C] NM_001242883,NM_001242882,NR_040103,NR_040104,NM_001242881,NM_018210 CARKD,CARKD,CARKD,CARKD,CARKD,CARKD EXON Synonymous_S221S,Synonymous_S313S,Silent,Silent,Synonymous_S331S,Nonsense_R377X exm1079885 13 111293898 [T/C] NM_024537 CARS2 EXON Missense_K561E exm1079890 13 111293947 [T/G] NM_024537 CARS2 EXON Missense_S544R exm1079896 13 111294706 [T/C] NM_024537 CARS2 EXON Missense_D527N exm1079898 13 111294747 [T/C] NM_024537 CARS2 EXON Missense_R513Q exm1790469 13 111294750 [T/C] NM_024537 CARS2 EXON Missense_R512Q exm1079900 13 111294754 [T/C] NM_024537 CARS2 EXON Missense_A511T exm1079906 13 111294796 [T/C] NM_024537 CARS2 EXON Missense_V497I exm1079925 13 111296732 [T/C] NM_024537 CARS2 EXON Synonymous_Q472Q exm1079928 13 111296817 [A/G] NM_024537 CARS2 EXON Missense_P444L exm1079940 13 111298436 [A/G] NM_024537 CARS2 EXON Missense_L399F exm1079944 13 111299473 [T/C] NM_024537 CARS2 EXON Missense_V390I exm1079947 13 111299509 [A/G] NM_024537 CARS2 EXON Missense_R378C exm1079970 13 111335406 [T/C] NM_024537 CARS2 EXON Missense_G216E exm2221376 13 111335419 [A/G] NM_024537 CARS2 EXON Missense_P212S exm1079974 13 111335467 [T/C] NM_024537 CARS2 EXON Missense_D196N exm1079977 13 111335479 [T/C] NM_024537 CARS2 EXON Missense_N192D exm1079982 13 111340076 [A/G] NM_024537 CARS2 EXON Missense_T188M exm1079983 13 111340099 [A/C] NM_024537 CARS2 EXON Missense_I180M exm1079984 13 111340101 [A/T] NM_024537 CARS2 EXON Missense_I180F exm1079989 13 111340173 [A/C] NM_024537 CARS2 EXON Missense_V156F exm2271995 13 111341751 [T/C] NM_024537 CARS2 Silent exm2274667 13 111353855 [A/C] NM_024537 CARS2 EXON Missense_F108C exm1080004 13 111353876 [T/C] NM_024537 CARS2 EXON Missense_R101Q exm1080008 13 111357899 [T/C] NM_024537 CARS2 EXON Missense_V82I exm1080013 13 111358319 [A/G] NM_024537 CARS2 EXON Missense_A41V exm1080031 13 111367808 [T/G] NM_198217,NM_198218,NM_198219,NM_005537,NM_001267728 ING1,ING1,ING1,ING1,ING1 EXON Silent,Silent,Silent,Missense_C6W,Missense_C6W exm1080032 13 111367839 [G/C] NM_198217,NM_198218,NM_198219,NM_005537,NM_001267728 ING1,ING1,ING1,ING1,ING1 EXON Silent,Silent,Silent,Missense_A17P,Missense_A17P exm1080035 13 111367876 [G/C] NM_198217,NM_198218,NM_198219,NM_005537,NM_001267728 ING1,ING1,ING1,ING1,ING1 EXON Silent,Silent,Silent,Missense_G29A,Silent exm1080054 13 111368059 [A/C] NM_198217,NM_198218,NM_198219,NM_005537,NM_001267728 ING1,ING1,ING1,ING1,ING1 EXON Silent,Silent,Silent,Missense_P90Q,Silent exm1080056 13 111368071 [T/C] NM_198217,NM_198218,NM_198219,NM_005537,NM_001267728 ING1,ING1,ING1,ING1,ING1 EXON Silent,Silent,Silent,Missense_S94L,Silent exm1080061 13 111368164 [T/G] NM_198217,NM_198218,NM_198219,NM_005537,NM_001267728 ING1,ING1,ING1,ING1,ING1 EXON Silent,Silent,Silent,Missense_L125R,Silent exm1790534 13 111368275 [G/C] NM_198217,NM_198218,NM_198219,NM_005537,NM_001267728 ING1,ING1,ING1,ING1,ING1 EXON Silent,Silent,Silent,Missense_R162P,Silent exm1080074 13 111371598 [G/C] NM_198217,NM_198218,NM_198219,NM_005537,NM_001267728 ING1,ING1,ING1,ING1,ING1 EXON Missense_E9D,Silent,Missense_E53D,Missense_E196D,Missense_E36D exm1080078 13 111371743 [A/C] NM_198217,NM_198218,NM_198219,NM_005537,NM_001267728 ING1,ING1,ING1,ING1,ING1 EXON Missense_R58S,Missense_R33S,Missense_R102S,Missense_R245S,Missense_R85S exm1080093 13 111371966 [T/C] NM_198217,NM_198218,NM_198219,NM_005537,NM_001267728 ING1,ING1,ING1,ING1,ING1 EXON Missense_P132L,Missense_P107L,Missense_P176L,Missense_P319L,Missense_P159L exm-rs767210 13 111470038 [A/G] exm1080128 13 111532174 [A/G] NM_017664 ANKRD10 EXON Missense_I358T exm1080131 13 111532288 [A/G] NM_017664 ANKRD10 EXON Missense_P320L exm1080133 13 111532381 [A/G] NM_017664 ANKRD10 EXON Missense_T289M exm1080147 13 111545474 [A/G] NM_017664 ANKRD10 EXON Missense_H198Y exm1080150 13 111545554 [T/G] NM_017664 ANKRD10 EXON Missense_Q171P exm1080166 13 111563063 [T/C] NM_017664 ANKRD10 EXON Missense_T89A exm1080172 13 111567139 [A/G] NM_017664 ANKRD10 EXON Missense_A48V exm1080182 13 111767958 [A/G] NM_001113512,NM_001113511,NM_145735 ARHGEF7,ARHGEF7,ARHGEF7 EXON Missense_G29S,Missense_G29S,Missense_G29S exm-rs4773330 13 111818832 [A/G] NM_001113512,NM_001113511,NM_145735,NM_003899 ARHGEF7,ARHGEF7,ARHGEF7,ARHGEF7 Silent,Silent,Silent,Silent exm1080198 13 111862344 [T/A] NM_001113512,NM_001113511,NM_145735,NM_003899,NM_001113513 ARHGEF7,ARHGEF7,ARHGEF7,ARHGEF7,ARHGEF7 EXON Missense_S126C,Missense_S176C,Missense_S155C,Silent,Silent exm1080200 13 111870054 [T/G] NM_001113512,NM_001113511,NM_145735,NM_003899,NM_001113513 ARHGEF7,ARHGEF7,ARHGEF7,ARHGEF7,ARHGEF7 EXON Missense_L137R,Missense_L187R,Missense_L166R,Missense_L9R,Missense_L9R exm1080203 13 111870148 [C/G] NM_001113512,NM_001113511,NM_145735,NM_003899,NM_001113513 ARHGEF7,ARHGEF7,ARHGEF7,ARHGEF7,ARHGEF7 EXON Missense_E168D,Missense_E218D,Missense_E197D,Missense_E40D,Missense_E40D exm1080206 13 111870180 [A/G] NM_001113512,NM_001113511,NM_145735,NM_003899,NM_001113513 ARHGEF7,ARHGEF7,ARHGEF7,ARHGEF7,ARHGEF7 EXON Missense_R179Q,Missense_R229Q,Missense_R208Q,Missense_R51Q,Missense_R51Q exm1080211 13 111870226 [T/C] NM_001113512,NM_001113511,NM_145735,NM_003899,NM_001113513 ARHGEF7,ARHGEF7,ARHGEF7,ARHGEF7,ARHGEF7 EXON Synonymous_S194S,Synonymous_S244S,Synonymous_S223S,Synonymous_S66S,Synonymous_S66S exm1080243 13 111927904 [A/G] NM_001113512,NM_001113511,NM_145735,NM_003899,NM_001113513 ARHGEF7,ARHGEF7,ARHGEF7,ARHGEF7,ARHGEF7 EXON Missense_R404K,Missense_R454K,Missense_R433K,Missense_R276K,Missense_R276K exm1080257 13 111932646 [A/G] NM_001113512,NM_001113511,NM_145735,NM_003899,NM_001113513 ARHGEF7,ARHGEF7,ARHGEF7,ARHGEF7,ARHGEF7 EXON Missense_I483V,Missense_I533V,Missense_I512V,Missense_I355V,Missense_I355V exm1080261 13 111932927 [A/G] NM_001113512,NM_001113511,NM_145735,NM_003899,NM_001113513 ARHGEF7,ARHGEF7,ARHGEF7,ARHGEF7,ARHGEF7 EXON Missense_Q514R,Missense_Q564R,Missense_Q543R,Missense_Q386R,Missense_Q386R exm1080262 13 111932944 [A/G] NM_001113512,NM_001113511,NM_145735,NM_003899,NM_001113513 ARHGEF7,ARHGEF7,ARHGEF7,ARHGEF7,ARHGEF7 EXON Missense_V520M,Missense_V570M,Missense_V549M,Missense_V392M,Missense_V392M exm2251320 13 111959610 [A/G] exm1080303 13 111973269 [T/C] NM_152324 TEX29 EXON Missense_P11L exm1080322 13 111992260 [A/G] NM_152324 TEX29 EXON Missense_V74I exm1080326 13 111995104 [A/G] NM_152324 TEX29 EXON Missense_V81I exm1080329 13 111995152 [G/C] NM_152324 TEX29 EXON Missense_L97V exm2251321 13 111995169 [T/C] NM_152324 TEX29 EXON Synonymous_S102S exm1080333 13 111995197 [A/C] NM_152324 TEX29 EXON Missense_S112R exm1080335 13 111995219 [T/C] NM_152324 TEX29 EXON Missense_A119V exm2260169 13 112136705 [A/C] exm-rs9555810 13 112181437 [C/G] exm-rs7333181 13 112221297 [A/G] exm2267578 13 112552523 [A/G] exm2272050 13 112664982 [T/C] exm2251323 13 112721999 [T/C] NM_005986 SOX1 EXON Synonymous_D9D exm1080452 13 112722387 [A/G] NM_005986 SOX1 EXON Missense_G139S exm1080464 13 112723111 [T/C] NM_005986 SOX1 EXON Missense_A380V exm1080474 13 113030748 [T/C] NM_145248 SPACA7 EXON Missense_C17R exm1080475 13 113030773 [A/G] NM_145248 SPACA7 EXON Missense_R25Q exm1080484 13 113052398 [T/A] NM_145248 SPACA7 EXON Nonsense_K63X exm1080485 13 113052408 [T/C] NM_145248 SPACA7 EXON Missense_P66L exm1080486 13 113052447 [T/C] NM_145248 SPACA7 EXON Missense_P79L exm1080495 13 113053470 [T/A] NM_145248 SPACA7 EXON Missense_V111D exm1080500 13 113055431 [A/G] NM_145248 SPACA7 EXON Missense_R133H exm1080502 13 113055451 [A/G] NM_145248 SPACA7 EXON Missense_G140S exm1080508 13 113086823 [A/G] NM_145248 SPACA7 EXON Missense_G171R exm1080510 13 113086835 [A/G] NM_145248 SPACA7 EXON Missense_G175R exm2264524 13 113097722 [A/C] exm1080529 13 113143942 [T/C] NM_006322 TUBGCP3 EXON Missense_I840V exm1080532 13 113144007 [A/T] NM_006322 TUBGCP3 EXON Missense_Q818L exm1080551 13 113173296 [A/G] NM_006322 TUBGCP3 EXON Missense_I648T exm1080561 13 113181257 [A/G] NM_006322 TUBGCP3 EXON Synonymous_D518D exm1080564 13 113181701 [T/C] NM_006322 TUBGCP3 EXON Missense_D478G exm1080605 13 113208394 [A/G] NM_006322 TUBGCP3 EXON Missense_R315C exm1080613 13 113210470 [A/G] NM_006322 TUBGCP3 EXON Missense_T206I exm1080625 13 113212711 [A/G] NM_006322 TUBGCP3 EXON Missense_T116M exm1080634 13 113223467 [T/C] NM_006322 TUBGCP3 EXON Synonymous_E61E exm1080638 13 113242239 [T/C] NM_006322 TUBGCP3 EXON Missense_R19K exm-rs7998202 13 113331868 [A/G] NM_207440 C13orf35 Silent exm1080652 13 113333757 [T/C] NM_207440 C13orf35 EXON Missense_P22S exm1790705 13 113333793 [A/C] NM_207440 C13orf35 EXON Missense_K34Q exm1080656 13 113333809 [A/G] NM_207440 C13orf35 EXON Missense_G39D exm1080666 13 113337689 [T/C] NM_207440 C13orf35 EXON Missense_R121W exm1080678 13 113439549 [A/C] NM_032189,NM_015205 ATP11A,ATP11A EXON Missense_D47A,Missense_D47A exm1080683 13 113459343 [A/G] NM_032189,NM_015205 ATP11A,ATP11A EXON Missense_I79V,Missense_I79V exm1080693 13 113465006 [A/G] NM_032189,NM_015205 ATP11A,ATP11A EXON Missense_G136D,Missense_G136D exm1080715 13 113477721 [T/C] NM_032189,NM_015205 ATP11A,ATP11A EXON Missense_F263S,Missense_F263S exm1080722 13 113479813 [A/G] NM_032189,NM_015205 ATP11A,ATP11A EXON Synonymous_L314L,Synonymous_L314L exm2251325 13 113479813 [A/G] NM_032189,NM_015205 ATP11A,ATP11A EXON Synonymous_L314L,Synonymous_L314L exm1080723 13 113479820 [A/G] NM_032189,NM_015205 ATP11A,ATP11A EXON Missense_M317V,Missense_M317V exm2251326 13 113481088 [T/C] NM_032189,NM_015205 ATP11A,ATP11A EXON Synonymous_V368V,Synonymous_V368V exm1080739 13 113481131 [A/G] NM_032189,NM_015205 ATP11A,ATP11A EXON Missense_E383K,Missense_E383K exm1080753 13 113485816 [T/C] NM_032189,NM_015205 ATP11A,ATP11A EXON Missense_S450L,Missense_S450L exm1080760 13 113487177 [T/C] NM_032189,NM_015205 ATP11A,ATP11A EXON Missense_R467C,Missense_R467C exm1080762 13 113487196 [A/G] NM_032189,NM_015205 ATP11A,ATP11A EXON Missense_R473Q,Missense_R473Q exm1080769 13 113487286 [T/G] NM_032189,NM_015205 ATP11A,ATP11A EXON Missense_V503G,Missense_V503G exm1080773 13 113487316 [T/C] NM_032189,NM_015205 ATP11A,ATP11A EXON Missense_A513V,Missense_A513V exm1790755 13 113488903 [T/A] NM_032189,NM_015205 ATP11A,ATP11A EXON Missense_R520S,Missense_R520S exm1080791 13 113505474 [A/G] NM_032189,NM_015205 ATP11A,ATP11A EXON Missense_A645T,Missense_A645T exm1080836 13 113512467 [A/G] NM_032189,NM_015205 ATP11A,ATP11A EXON Missense_G844S,Missense_G844S exm1080851 13 113514616 [A/G] NM_032189,NM_015205 ATP11A,ATP11A EXON Missense_A915T,Missense_A915T exm1080858 13 113516758 [A/G] NM_032189,NM_015205 ATP11A,ATP11A EXON Missense_V954I,Missense_V954I exm1080860 13 113516761 [A/G] NM_032189,NM_015205 ATP11A,ATP11A EXON Missense_A955T,Missense_A955T exm1080864 13 113516788 [A/G] NM_032189,NM_015205 ATP11A,ATP11A EXON Missense_V964M,Missense_V964M exm1080885 13 113527952 [C/G] NM_032189,NM_015205 ATP11A,ATP11A EXON Missense_F1041L,Missense_F1041L exm2260171 13 113529257 [A/G] NM_032189,NM_015205 ATP11A,ATP11A Silent,Silent exm1080892 13 113530129 [C/G] NM_032189,NM_015205 ATP11A,ATP11A EXON Missense_I1067M,Missense_I1067M exm1080894 13 113530175 [T/G] NM_032189,NM_015205 ATP11A,ATP11A EXON Missense_V1083L,Missense_V1083L exm1080898 13 113530199 [A/G] NM_032189,NM_015205 ATP11A,ATP11A EXON Missense_V1091I,Missense_V1091I exm1080920 13 113536170 [C/G] NM_032189,NM_015205 ATP11A,ATP11A EXON Missense_T1123S,Silent exm1080923 13 113536223 [A/G] NM_032189,NM_015205 ATP11A,ATP11A EXON Missense_A1141T,Silent exm1080924 13 113536232 [A/G] NM_032189,NM_015205 ATP11A,ATP11A EXON Missense_S1144G,Silent exm1080925 13 113536257 [T/C] NM_032189,NM_015205 ATP11A,ATP11A EXON Missense_L1152P,Silent exm1080927 13 113536260 [T/C] NM_032189,NM_015205 ATP11A,ATP11A EXON Missense_A1153V,Silent exm1080983 13 113669142 [T/C] NM_001112732,NM_024979 MCF2L,MCF2L EXON Missense_R49C,Missense_R47C exm1080984 13 113669144 [T/C] NM_001112732,NM_024979 MCF2L,MCF2L EXON Synonymous_R49R,Synonymous_R47R exm1080985 13 113669159 [T/C] NM_001112732,NM_024979 MCF2L,MCF2L EXON Synonymous_S54S,Synonymous_S52S exm2267579 13 113674630 [A/G] NM_001112732,NM_024979 MCF2L,MCF2L Silent,Silent exm1081017 13 113699631 [T/C] NM_001112732,NM_024979 MCF2L,MCF2L EXON Missense_R109W,Missense_R107W exm1081018 13 113699648 [A/C] NM_001112732,NM_024979 MCF2L,MCF2L EXON Synonymous_S114S,Synonymous_S112S exm1081021 13 113699673 [A/G] NM_001112732,NM_024979 MCF2L,MCF2L EXON Missense_A123T,Missense_A121T exm1081033 13 113715020 [A/G] NM_001112732,NM_024979 MCF2L,MCF2L EXON Synonymous_K161K,Synonymous_K159K exm1081041 13 113718663 [A/G] NM_001112732,NM_024979 MCF2L,MCF2L EXON Missense_K179E,Missense_K177E exm1081043 13 113718715 [A/G] NM_001112732,NM_024979 MCF2L,MCF2L EXON Missense_R196Q,Missense_R194Q exm1081045 13 113718723 [T/G] NM_001112732,NM_024979 MCF2L,MCF2L EXON Missense_C199G,Missense_C197G exm1081052 13 113719302 [C/G] NM_001112732,NM_024979 MCF2L,MCF2L EXON Missense_S220C,Missense_S218C exm1081054 13 113719313 [A/G] NM_001112732,NM_024979 MCF2L,MCF2L EXON Missense_E224K,Missense_E222K exm1081071 13 113720476 [T/C] NM_001112732,NM_024979 MCF2L,MCF2L EXON Synonymous_T291T,Synonymous_T289T exm1081072 13 113720477 [A/G] NM_001112732,NM_024979 MCF2L,MCF2L EXON Missense_V292M,Missense_V290M exm1790885 13 113728780 [T/C] NM_001112732,NM_024979 MCF2L,MCF2L EXON Missense_A340V,Missense_A338V exm1081080 13 113728781 [A/G] NM_001112732,NM_024979 MCF2L,MCF2L EXON Synonymous_A340A,Synonymous_A338A exm1081085 13 113728855 [G/C] NM_001112732,NM_024979 MCF2L,MCF2L EXON Missense_A365G,Missense_A363G exm1081099 13 113729367 [A/G] NM_001112732,NM_024979 MCF2L,MCF2L EXON Missense_N391S,Missense_N389S exm1081102 13 113729378 [A/G] NM_001112732,NM_024979 MCF2L,MCF2L EXON Missense_A395T,Missense_A393T exm1081103 13 113729379 [T/C] NM_001112732,NM_024979 MCF2L,MCF2L EXON Missense_A395V,Missense_A393V exm1081107 13 113729439 [T/C] NM_001112732,NM_024979 MCF2L,MCF2L EXON Missense_A415V,Missense_A413V exm1081108 13 113729440 [G/C] NM_001112732,NM_024979 MCF2L,MCF2L EXON Synonymous_A415A,Synonymous_A413A exm1081112 13 113729490 [A/G] NM_001112732,NM_024979 MCF2L,MCF2L EXON Missense_R432H,Missense_R430H exm1790904 13 113730328 [A/G] NM_001112732,NM_024979 MCF2L,MCF2L EXON Missense_V453M,Missense_V451M exm1790905 13 113730426 [C/G] NM_001112732,NM_024979 MCF2L,MCF2L EXON Missense_N485K,Missense_N483K exm1081121 13 113730445 [A/G] NM_001112732,NM_024979 MCF2L,MCF2L EXON Missense_E492K,Missense_E490K exm1081122 13 113730466 [T/C] NM_001112732,NM_024979 MCF2L,MCF2L EXON Missense_L499F,Missense_L497F exm1081132 13 113732707 [T/C] NM_001112732,NM_024979 MCF2L,MCF2L EXON Missense_S564F,Missense_S562F exm1081137 13 113732740 [A/G] NM_001112732,NM_024979 MCF2L,MCF2L EXON Missense_R575Q,Missense_R573Q exm1081146 13 113735585 [A/G] NM_001112732,NM_024979 MCF2L,MCF2L EXON Missense_V623I,Missense_V621I exm1081161 13 113739226 [T/C] NM_001112732,NM_024979 MCF2L,MCF2L EXON Synonymous_Y694Y,Synonymous_Y692Y exm1081164 13 113739280 [T/C] NM_001112732,NM_024979 MCF2L,MCF2L EXON Synonymous_S712S,Synonymous_S710S exm1081181 13 113741770 [T/C] NM_001112732,NM_024979 MCF2L,MCF2L EXON Synonymous_N865N,Synonymous_N863N exm1081183 13 113742048 [A/G] NM_001112732,NM_024979 MCF2L,MCF2L EXON Missense_V875M,Missense_V873M exm1081190 13 113742667 [A/G] NM_001112732,NM_024979 MCF2L,MCF2L EXON Synonymous_A905A,Synonymous_A903A exm1081199 13 113743987 [T/C] NM_001112732,NM_024979 MCF2L,MCF2L EXON Synonymous_S966S,Synonymous_S964S exm1790959 13 113744000 [A/G] NM_001112732,NM_024979 MCF2L,MCF2L EXON Missense_V971I,Missense_V969I exm1081219 13 113748872 [A/G] NM_001112732,NM_024979 MCF2L,MCF2L EXON Missense_G1000R,Missense_G998R exm1081252 13 113765018 [A/G] NM_000131,NM_001267554,NM_019616,NR_051961 F7,F7,F7,F7 EXON Missense_E49K,Silent,Missense_E27K,Silent exm1081264 13 113768260 [A/G] NM_000131,NM_001267554,NM_019616,NR_051961 F7,F7,F7,F7 EXON Missense_R139Q,Missense_R55Q,Missense_R117Q,Silent exm1081265 13 113768273 [A/G] NM_000131,NM_001267554,NM_019616,NR_051961 F7,F7,F7,F7 EXON Synonymous_T143T,Synonymous_T59T,Synonymous_T121T,Silent exm1081266 13 113768274 [T/C] NM_000131,NM_001267554,NM_019616,NR_051961 F7,F7,F7,F7 EXON Missense_H144Y,Missense_H60Y,Missense_H122Y,Silent exm1081268 13 113770022 [A/G] NM_000131,NM_001267554,NM_019616,NR_051961 F7,F7,F7,F7 EXON Missense_Q160R,Missense_Q76R,Missense_Q138R,Silent exm1081270 13 113770055 [T/C] NM_000131,NM_001267554,NM_019616,NR_051961 F7,F7,F7,F7 EXON Missense_S171F,Missense_S87F,Missense_S149F,Silent exm1081271 13 113770060 [T/C] NM_000131,NM_001267554,NM_019616,NR_051961 F7,F7,F7,F7 EXON Missense_R173W,Missense_R89W,Missense_R151W,Silent exm1081273 13 113770081 [C/G] NM_000131,NM_001267554,NM_019616,NR_051961 F7,F7,F7,F7 EXON Missense_L180V,Missense_L96V,Missense_L158V,Silent exm1081279 13 113771107 [T/G] NM_000131,NM_001267554,NM_019616,NR_051961 F7,F7,F7,F7 EXON Missense_I200S,Missense_I116S,Missense_I178S,Silent exm1081282 13 113771160 [A/G] NM_000131,NM_001267554,NM_019616,NR_051961 F7,F7,F7,F7 EXON Missense_V218M,Missense_V134M,Missense_V196M,Silent exm1081296 13 113772772 [A/G] NM_000131,NM_001267554,NM_019616,NR_051961 F7,F7,F7,F7 EXON Missense_R284Q,Missense_R200Q,Missense_R262Q,Silent exm2251328 13 113772854 [T/C] NM_000131,NM_001267554,NM_019616,NR_051961 F7,F7,F7,F7 EXON Synonymous_P311P,Synonymous_P227P,Synonymous_P289P,Silent exm1081304 13 113772855 [A/G] NM_000131,NM_001267554,NM_019616,NR_051961 F7,F7,F7,F7 EXON Missense_V312M,Missense_V228M,Missense_V290M,Silent exm2221397 13 113772916 [T/C] NM_000131,NM_001267554,NM_019616,NR_051961 F7,F7,F7,F7 EXON Missense_T332M,Missense_T248M,Missense_T310M,Silent exm1081308 13 113772930 [T/C] NM_000131,NM_001267554,NM_019616,NR_051961 F7,F7,F7,F7 EXON Missense_R337C,Missense_R253C,Missense_R315C,Silent exm1081310 13 113772975 [A/G] NM_000131,NM_001267554,NM_019616,NR_051961 F7,F7,F7,F7 EXON Missense_A352T,Missense_A268T,Missense_A330T,Silent exm1081312 13 113772982 [T/C] NM_000131,NM_001267554,NM_019616,NR_051961 F7,F7,F7,F7 EXON Missense_A354V,Missense_A270V,Missense_A332V,Silent exm1081313 13 113772995 [A/G] NM_000131,NM_001267554,NM_019616,NR_051961 F7,F7,F7,F7 EXON Missense_M358I,Missense_M274I,Missense_M336I,Silent exm1081315 13 113773012 [A/G] NM_000131,NM_001267554,NM_019616,NR_051961 F7,F7,F7,F7 EXON Missense_R364Q,Missense_R280Q,Missense_R342Q,Silent exm1081327 13 113773159 [A/G] NM_000131,NM_001267554,NM_019616,NR_051961 F7,F7,F7,F7 EXON Missense_R413Q,Missense_R329Q,Missense_R391Q,Silent exm1081330 13 113773254 [A/G] NM_000131,NM_001267554,NM_019616,NR_051961 F7,F7,F7,F7 EXON Missense_E445K,Missense_E361K,Missense_E423K,Silent exm1081349 13 113783926 [A/G] NM_000504 F10 EXON Synonymous_T77T exm1791008 13 113793784 [T/C] NM_000504 F10 EXON Missense_F124L exm1081358 13 113795286 [A/G] NM_000504 F10 EXON Missense_E142K exm1081369 13 113798236 [A/G] NM_000504 F10 EXON Missense_G192R exm1081372 13 113798308 [A/G] NM_000504 F10 EXON Missense_D216N exm1081383 13 113803236 [A/G] NM_000504 F10 EXON Missense_R291Q exm1081395 13 113803311 [A/G] NM_000504 F10 EXON Missense_K316R exm1081408 13 113803479 [G/C] NM_000504 F10 EXON Missense_R372P exm1081425 13 113813005 [G/C] NM_003891,NM_001256134 PROZ,PROZ EXON Missense_L11V,Missense_L11V exm1081438 13 113814442 [A/T] NM_003891,NM_001256134 PROZ,PROZ EXON Missense_I62N,Missense_I84N exm1081458 13 113819398 [G/C] NM_003891,NM_001256134 PROZ,PROZ EXON Missense_E179D,Missense_E201D exm1081466 13 113824745 [A/G] NM_003891,NM_001256134 PROZ,PROZ EXON Missense_E198K,Missense_E220K exm1081472 13 113825925 [A/C] NM_003891,NM_001256134 PROZ,PROZ EXON Missense_Q237K,Missense_Q259K exm1081479 13 113825970 [T/C] NM_003891,NM_001256134 PROZ,PROZ EXON Missense_R252W,Missense_R274W exm1081483 13 113825992 [T/A] NM_003891,NM_001256134 PROZ,PROZ EXON Missense_E259V,Missense_E281V exm1081484 13 113826040 [A/G] NM_003891,NM_001256134 PROZ,PROZ EXON Missense_G275D,Missense_G297D exm1081487 13 113826078 [A/G] NM_003891,NM_001256134 PROZ,PROZ EXON Missense_A288T,Missense_A310T exm1081489 13 113826087 [T/C] NM_003891,NM_001256134 PROZ,PROZ EXON Missense_L291F,Missense_L313F exm1081490 13 113826090 [T/C] NM_003891,NM_001256134 PROZ,PROZ EXON Missense_L292F,Missense_L314F exm1081492 13 113826100 [A/G] NM_003891,NM_001256134 PROZ,PROZ EXON Missense_R295H,Missense_R317H exm1081494 13 113826163 [T/C] NM_003891,NM_001256134 PROZ,PROZ EXON Missense_T316M,Missense_T338M exm1791061 13 113832487 [T/C] NM_001258212,NM_001258213,NM_001127202,NM_018386,NM_001127203 PCID2,PCID2,PCID2,PCID2,PCID2 EXON Silent,Silent,Silent,Silent,Silent exm1081526 13 113834298 [A/G] NM_001258212,NM_001258213,NM_001127202,NM_018386,NM_001127203 PCID2,PCID2,PCID2,PCID2,PCID2 EXON Missense_R361C,Missense_R305C,Missense_R307C,Missense_R307C,Missense_R307C exm1081535 13 113835536 [A/C] NM_001258212,NM_001258213,NM_001127202,NM_018386,NM_001127203 PCID2,PCID2,PCID2,PCID2,PCID2 EXON Missense_Y286D,Missense_Y230D,Missense_Y232D,Missense_Y232D,Missense_Y232D exm1081537 13 113838725 [A/G] NM_001258212,NM_001258213,NM_001127202,NM_018386,NM_001127203 PCID2,PCID2,PCID2,PCID2,PCID2 EXON Missense_A261V,Missense_A205V,Missense_A207V,Missense_A207V,Missense_A207V exm1081596 13 113873295 [A/G] NM_003589,NM_001008895 CUL4A,CUL4A EXON Missense_M1V,Missense_M101V exm1081599 13 113873313 [T/C] NM_003589,NM_001008895 CUL4A,CUL4A EXON Missense_R7C,Missense_R107C exm1081602 13 113882307 [T/C] NM_003589,NM_001008895 CUL4A,CUL4A EXON Missense_V29A,Missense_V129A exm1081606 13 113887522 [A/G] NM_003589,NM_001008895 CUL4A,CUL4A EXON Missense_I82V,Missense_I182V exm1081609 13 113887579 [A/G] NM_003589,NM_001008895 CUL4A,CUL4A EXON Missense_E101K,Missense_E201K exm1081611 13 113887592 [A/G] NM_003589,NM_001008895 CUL4A,CUL4A EXON Missense_S105N,Missense_S205N exm1081632 13 113893834 [T/C] NM_003589,NM_001008895 CUL4A,CUL4A EXON Missense_A235V,Missense_A335V exm1081645 13 113897473 [A/C] NM_003589,NM_001008895 CUL4A,CUL4A EXON Synonymous_I309I,Synonymous_I409I exm1081666 13 113909074 [G/C] NM_003589,NM_001008895 CUL4A,CUL4A EXON Missense_G507A,Missense_G607A exm1081671 13 113909339 [A/G] NM_003589,NM_001008895 CUL4A,CUL4A EXON Missense_K544R,Missense_K644R exm2267628 13 113942301 [A/G] exm1081688 13 113960815 [T/C] NM_005561 LAMP1 EXON Missense_A26V exm1081690 13 113960845 [A/G] NM_005561 LAMP1 EXON Missense_G36D exm1081698 13 113963983 [A/G] NM_005561 LAMP1 EXON Missense_D70G exm1081699 13 113964003 [T/C] NM_005561 LAMP1 EXON Missense_R77C exm1081703 13 113964148 [A/C] NM_005561 LAMP1 EXON Missense_T125K exm1081704 13 113964153 [G/C] NM_005561 LAMP1 EXON Missense_L127V exm1081717 13 113973786 [A/T] NM_005561 LAMP1 EXON Missense_T189S exm1081721 13 113973832 [T/C] NM_005561 LAMP1 EXON Missense_A204V exm1081722 13 113973847 [T/C] NM_005561 LAMP1 EXON Missense_S209L exm1081736 13 113975735 [A/G] NM_005561 LAMP1 EXON Missense_R298Q exm1081739 13 113975768 [T/C] NM_005561 LAMP1 EXON Missense_I309T exm1081741 13 113975873 [T/C] NM_005561 LAMP1 EXON Synonymous_D315D exm1081769 13 113978823 [A/G] NM_024719 GRTP1 EXON Missense_R331W exm1081783 13 113979986 [T/G] NM_024719 GRTP1 EXON Missense_T304K exm1081787 13 113980025 [T/C] NM_024719 GRTP1 EXON Missense_K291R exm1081790 13 113980078 [T/G] NM_024719 GRTP1 EXON Missense_H273Q exm1791178 13 113980104 [T/C] NM_024719 GRTP1 EXON Missense_V265M exm1081794 13 113980121 [A/G] NM_024719 GRTP1 EXON Missense_S259L exm1081803 13 113980274 [T/C] NM_024719 GRTP1 EXON Missense_R232H exm1081805 13 113980289 [A/G] NM_024719 GRTP1 EXON Missense_T227M exm1081808 13 113980313 [A/G] NM_024719 GRTP1 EXON Missense_M219T exm1081811 13 113980335 [T/G] NM_024719 GRTP1 EXON Missense_L212M exm1081812 13 113980340 [A/G] NM_024719 GRTP1 EXON Missense_A210V exm1081816 13 113980388 [A/G] NM_024719 GRTP1 EXON Missense_M194T exm1081821 13 113999275 [T/C] NM_024719 GRTP1 Silent exm1081828 13 114005253 [A/G] NM_024719 GRTP1 EXON Missense_R126W exm2271996 13 114007887 [T/C] NM_024719 GRTP1 Silent exm1081839 13 114018184 [T/G] NM_024719 GRTP1 EXON Missense_D25A exm1081849 13 114077172 [T/C] NM_199162,NM_138430 ADPRHL1,ADPRHL1 EXON Missense_A262T,Missense_A344T exm1081851 13 114077231 [A/C] NM_199162,NM_138430 ADPRHL1,ADPRHL1 EXON Missense_L242R,Missense_L324R exm1081860 13 114078558 [A/C] NM_199162,NM_138430 ADPRHL1,ADPRHL1 EXON Missense_L212R,Missense_L294R exm1081865 13 114078625 [A/G] NM_199162,NM_138430 ADPRHL1,ADPRHL1 EXON Nonsense_R190X,Nonsense_R272X exm1081871 13 114079374 [T/C] NM_199162,NM_138430 ADPRHL1,ADPRHL1 EXON Missense_R174K,Missense_R256K exm1081882 13 114083320 [T/C] NM_199162,NM_138430 ADPRHL1,ADPRHL1 EXON Missense_R116Q,Missense_R198Q exm1081887 13 114088074 [A/G] NM_199162,NM_138430 ADPRHL1,ADPRHL1 EXON Missense_T81I,Missense_T163I exm1081910 13 114098886 [A/T] NM_199162,NM_138430 ADPRHL1,ADPRHL1 EXON Silent,Missense_D78V exm1081913 13 114107571 [A/G] NM_138430 ADPRHL1 EXON Missense_M61T exm1081915 13 114107595 [T/C] NM_138430 ADPRHL1 EXON Nonsense_W53X exm2221409 13 114107733 [A/G] NM_138430 ADPRHL1 EXON Missense_A7V exm1081948 13 114134903 [T/C] NM_001014283 DCUN1D2 EXON Missense_M126V exm1081959 13 114138200 [T/C] NM_001014283 DCUN1D2 EXON Missense_A59T exm1081962 13 114138268 [T/C] NM_001014283 DCUN1D2 EXON Missense_R36K exm1081979 13 114149919 [T/G] NM_017905 TMCO3 EXON Missense_F8C exm1791257 13 114149937 [T/C] NM_017905 TMCO3 EXON Missense_P14L exm2251330 13 114149938 [T/C] NM_017905 TMCO3 EXON Synonymous_P14P exm1081988 13 114150006 [A/G] NM_017905 TMCO3 EXON Missense_R37H exm1791259 13 114150029 [G/C] NM_017905 TMCO3 EXON Missense_Q45E exm1081994 13 114150039 [A/G] NM_017905 TMCO3 EXON Missense_Q48R exm1081996 13 114150095 [A/G] NM_017905 TMCO3 EXON Missense_V67I exm1791269 13 114152694 [A/G] NM_017905 TMCO3 EXON Missense_K161R exm1082019 13 114152730 [A/G] NM_017905 TMCO3 EXON Missense_Q173R exm2251331 13 114154419 [A/G] NM_017905 TMCO3 EXON Synonymous_K257K exm1082061 13 114174993 [G/C] NM_017905 TMCO3 EXON Missense_L430V exm1082067 13 114175032 [A/G] NM_017905 TMCO3 EXON Missense_A443T exm1082069 13 114175038 [A/G] NM_017905 TMCO3 EXON Missense_A445T exm1082076 13 114188464 [A/G] NM_017905 TMCO3 EXON Missense_G483E exm1082085 13 114193713 [C/G] NM_017905 TMCO3 EXON Missense_F527L exm1082089 13 114193747 [A/G] NM_017905 TMCO3 EXON Missense_V539M exm1082098 13 114201633 [T/C] NM_017905 TMCO3 EXON Missense_T570M exm1082135 13 114277496 [T/C] NR_026580,NM_007111 TFDP1,TFDP1 EXON Silent,Synonymous_G27G exm1082143 13 114277574 [C/G] NR_026580,NM_007111 TFDP1,TFDP1 EXON Silent,Missense_Q53H exm1082182 13 114291009 [A/G] NR_026580,NM_007111 TFDP1,TFDP1 EXON Silent,Missense_V334M exm1082202 13 114303693 [T/A] NM_000705 ATP4B EXON Missense_K291M exm1082211 13 114303822 [A/G] NM_000705 ATP4B EXON Missense_A248V exm1082223 13 114306002 [A/G] NM_000705 ATP4B EXON Missense_V199A exm1082230 13 114307246 [A/G] NM_000705 ATP4B EXON Missense_A166V exm1082235 13 114307313 [T/C] NM_000705 ATP4B EXON Missense_A144T exm2221414 13 114307316 [A/G] NM_000705 ATP4B EXON Missense_R143C exm1082245 13 114307693 [T/C] NM_000705 ATP4B EXON Missense_V100I exm1082246 13 114307708 [T/C] NM_000705 ATP4B EXON Missense_E95K exm1082260 13 114309237 [T/C] NM_000705 ATP4B EXON Missense_V45M exm1082269 13 114312404 [T/C] NM_000705 ATP4B EXON Missense_R19H exm1082276 13 114312455 [A/G] NM_000705 ATP4B EXON Missense_A2V exm1082277 13 114321711 [A/G] NM_002929 GRK1 EXON Missense_G4R exm1082283 13 114321792 [T/C] NM_002929 GRK1 EXON Missense_R31W exm1082285 13 114321852 [T/C] NM_002929 GRK1 EXON Missense_R51C exm1082287 13 114321861 [T/C] NM_002929 GRK1 EXON Missense_L54F exm1082295 13 114321991 [T/C] NM_002929 GRK1 EXON Missense_T97M exm1082304 13 114322233 [A/C] NM_002929 GRK1 EXON Missense_K178Q exm1082317 13 114324024 [T/C] NM_002929 GRK1 EXON Missense_I241T exm1082324 13 114325855 [T/C] NM_002929 GRK1 EXON Missense_P290L exm1082328 13 114325878 [A/G] NM_002929 GRK1 EXON Missense_T298A exm2251332 13 114325910 [A/G] NM_002929 GRK1 EXON Synonymous_L308L exm1082336 13 114325932 [T/C] NM_002929 GRK1 EXON Missense_R316C exm2221416 13 114325970 [T/C] NM_002929 GRK1 EXON Synonymous_D328D exm1082344 13 114434306 [A/G] NM_002929 GRK1 EXON Missense_R395H exm1082345 13 114435882 [A/G] NM_002929 GRK1 EXON Missense_R407Q exm1082346 13 114435948 [T/C] NM_002929 GRK1 EXON Missense_A429V exm1082387 13 114469204 [A/G] NM_182614 TMEM255B EXON Missense_V55I exm1082388 13 114469205 [T/C] NM_182614 TMEM255B EXON Missense_V55A exm1082401 13 114472101 [A/G] NM_182614 TMEM255B EXON Missense_G74S exm2274668 13 114498190 [A/G] NM_182614 TMEM255B EXON Missense_V108I exm1082410 13 114498208 [A/G] NM_182614 TMEM255B EXON Missense_I114V exm1082411 13 114502316 [T/C] NM_182614 TMEM255B EXON Missense_P116L exm1082415 13 114502358 [A/G] NM_182614 TMEM255B EXON Missense_G130E exm1082419 13 114502384 [T/C] NM_182614 TMEM255B EXON Nonsense_Q139X exm1082426 13 114503821 [A/G] NM_182614 TMEM255B EXON Missense_G149S exm1082438 13 114504637 [T/C] NM_182614 TMEM255B EXON Missense_S174L exm1082439 13 114504660 [A/G] NM_182614 TMEM255B EXON Missense_G182S exm1082440 13 114504663 [A/G] NM_182614 TMEM255B EXON Missense_V183I exm1082453 13 114504784 [T/C] NM_182614 TMEM255B EXON Missense_M223T exm1082461 13 114507886 [T/C] NM_182614 TMEM255B EXON Missense_P233L exm1082462 13 114507891 [A/G] NM_182614 TMEM255B EXON Missense_V235I exm1082465 13 114507948 [A/C] NM_182614 TMEM255B EXON Missense_R254S exm1082472 13 114508000 [A/C] NM_182614 TMEM255B EXON Missense_Q271P exm1082487 13 114514845 [T/C] NM_182614 TMEM255B EXON Missense_P317L exm2274669 13 114514863 [A/C] NM_182614 TMEM255B EXON Missense_P323H exm1082507 13 114524966 [T/C] NR_044995,NM_000820,NM_001143945,NM_001143946 GAS6-AS1,GAS6,GAS6,GAS6 EXON Silent,Missense_R616Q,Missense_R343Q,Missense_R317Q exm2221420 13 114524975 [T/C] NR_044995,NM_000820,NM_001143945,NM_001143946 GAS6-AS1,GAS6,GAS6,GAS6 EXON Silent,Missense_R613K,Missense_R340K,Missense_R314K exm1082508 13 114524979 [T/C] NR_044995,NM_000820,NM_001143945,NM_001143946 GAS6-AS1,GAS6,GAS6,GAS6 EXON Silent,Missense_E612K,Missense_E339K,Missense_E313K exm1082522 13 114525123 [T/G] NR_044995,NM_000820,NM_001143945,NM_001143946 GAS6-AS1,GAS6,GAS6,GAS6 EXON Silent,Missense_L564I,Missense_L291I,Missense_L265I exm1082527 13 114526421 [A/G] NR_044995,NM_000820,NM_001143945,NM_001143946 GAS6-AS1,GAS6,GAS6,GAS6 EXON Silent,Missense_A527V,Missense_A254V,Missense_A228V exm1082531 13 114526503 [T/C] NR_044995,NM_000820,NM_001143945,NM_001143946 GAS6-AS1,GAS6,GAS6,GAS6 EXON Silent,Missense_G500R,Missense_G227R,Missense_G201R exm2267580 13 114527838 [A/G] NR_044995,NM_000820,NM_001143945,NM_001143946 GAS6-AS1,GAS6,GAS6,GAS6 Silent,Silent,Silent,Silent exm1082538 13 114529980 [T/C] NR_044995,NM_000820,NM_001143945,NM_001143946 GAS6-AS1,GAS6,GAS6,GAS6 EXON Silent,Missense_S489N,Missense_S216N,Missense_S190N exm2251334 13 114530003 [A/G] NR_044995,NM_000820,NM_001143945,NM_001143946 GAS6-AS1,GAS6,GAS6,GAS6 EXON Silent,Synonymous_P481P,Synonymous_P208P,Synonymous_P182P exm1082550 13 114531587 [T/C] NR_044995,NM_000820,NM_001143945,NM_001143946 GAS6-AS1,GAS6,GAS6,GAS6 EXON Silent,Missense_R414Q,Missense_R141Q,Missense_R115Q exm1082556 13 114531660 [T/C] NR_044995,NM_000820,NM_001143945,NM_001143946 GAS6-AS1,GAS6,GAS6,GAS6 EXON Silent,Missense_N390D,Missense_N117D,Missense_N91D exm1082561 13 114535300 [A/G] NR_044995,NM_000820,NM_001143945,NM_001143946 GAS6-AS1,GAS6,GAS6,GAS6 EXON Silent,Missense_P372L,Missense_P99L,Missense_P73L exm1082562 13 114535304 [T/C] NR_044995,NM_000820,NM_001143945,NM_001143946 GAS6-AS1,GAS6,GAS6,GAS6 EXON Silent,Missense_G371S,Missense_G98S,Missense_G72S exm1082565 13 114535318 [T/C] NR_044995,NM_000820,NM_001143945,NM_001143946 GAS6-AS1,GAS6,GAS6,GAS6 EXON Silent,Missense_R366H,Missense_R93H,Missense_R67H exm1082569 13 114535376 [T/C] NR_044995,NM_000820,NM_001143945,NM_001143946 GAS6-AS1,GAS6,GAS6,GAS6 EXON Silent,Missense_V347M,Missense_V74M,Missense_V48M exm1791445 13 114535698 [T/C] NR_044995,NM_000820,NM_001143945,NM_001143946 GAS6-AS1,GAS6,GAS6,GAS6 EXON Silent,Missense_V288M,Missense_V15M,Silent exm1082581 13 114535710 [T/C] NR_044995,NM_000820,NM_001143945,NM_001143946 GAS6-AS1,GAS6,GAS6,GAS6 EXON Silent,Missense_V284M,Missense_V11M,Silent exm1082593 13 114537583 [T/G] NR_044995,NM_000820,NM_001143945 GAS6-AS1,GAS6,GAS6 EXON Silent,Missense_T259P,Silent exm1082598 13 114537621 [T/C] NR_044995,NM_000820,NM_001143945 GAS6-AS1,GAS6,GAS6 EXON Silent,Missense_R246H,Silent exm1082601 13 114538506 [T/G] NR_044995,NM_000820,NM_001143945 GAS6-AS1,GAS6,GAS6 EXON Silent,Missense_S231Y,Silent exm1082602 13 114538515 [A/G] NR_044995,NM_000820,NM_001143945 GAS6-AS1,GAS6,GAS6 EXON Silent,Missense_A228V,Silent exm1082605 13 114538587 [A/G] NR_044995,NM_000820,NM_001143945 GAS6-AS1,GAS6,GAS6 EXON Silent,Missense_S204L,Silent exm1082606 13 114538600 [T/C] NR_044995,NM_000820,NM_001143945 GAS6-AS1,GAS6,GAS6 EXON Silent,Missense_E200K,Silent exm1082615 13 114542707 [C/G] NR_044995,NM_000820 GAS6-AS1,GAS6 EXON Silent,Missense_D154H exm1082616 13 114542716 [A/G] NR_044995,NM_000820 GAS6-AS1,GAS6 EXON Silent,Missense_R151W exm1791463 13 114549520 [A/C] NM_000820 GAS6 EXON Missense_G108V exm1082648 13 114748792 [T/C] NM_007368 RASA3 EXON Missense_R824Q exm1082649 13 114748793 [A/G] NM_007368 RASA3 EXON Missense_R824W exm1082650 13 114748820 [T/C] NM_007368 RASA3 EXON Missense_G815R exm1082657 13 114751179 [A/G] NM_007368 RASA3 EXON Missense_T779M exm1082659 13 114751194 [T/C] NM_007368 RASA3 EXON Missense_Q774R exm1791476 13 114751218 [A/G] NM_007368 RASA3 EXON Missense_S766L exm1082686 13 114762172 [A/G] NM_007368 RASA3 EXON Missense_A659V exm1082690 13 114765061 [A/G] NM_007368 RASA3 EXON Synonymous_N644N exm1082699 13 114773022 [T/C] NM_007368 RASA3 EXON Missense_V577M exm1082740 13 114780784 [A/G] NM_007368 RASA3 EXON Missense_R436C exm1791522 13 114781697 [A/G] NM_007368 RASA3 EXON Synonymous_D419D exm1082744 13 114781720 [T/C] NM_007368 RASA3 EXON Missense_I412V exm1082762 13 114784270 [T/C] NM_007368 RASA3 EXON Missense_R304Q exm1791534 13 114784274 [A/G] NM_007368 RASA3 EXON Synonymous_L303L exm1082780 13 114792865 [T/C] NM_007368 RASA3 EXON Synonymous_E201E exm1791552 13 114795341 [T/C] NM_007368 RASA3 EXON Missense_R132Q exm1082798 13 114806502 [A/G] NM_007368 RASA3 EXON Missense_H116Y exm1082802 13 114817583 [T/C] NM_007368 RASA3 EXON Missense_R74H exm2271997 13 114830132 [T/C] NM_007368 RASA3 Silent exm2267629 13 114897534 [A/G] NM_007368 RASA3 Silent exm1082813 13 115002283 [A/G] NM_003903,NM_001078645 CDC16,CDC16 EXON Missense_Q38R,Missense_Q38R exm2221427 13 115004484 [A/G] NM_003903,NM_001078645 CDC16,CDC16 EXON Missense_Y74C,Missense_Y74C exm1082841 13 115008784 [T/G] NM_003903,NM_001078645 CDC16,CDC16 EXON Missense_Q198H,Missense_Q198H exm1082855 13 115010370 [T/C] NM_003903,NM_001078645 CDC16,CDC16 EXON Missense_M258T,Missense_M258T exm1082880 13 115024810 [A/G] NM_003903,NM_001078645 CDC16,CDC16 EXON Synonymous_E417E,Synonymous_E417E exm1082885 13 115028428 [T/C] NM_003903,NM_001078645 CDC16,CDC16 EXON Missense_A484V,Missense_A484V exm1791608 13 115037812 [T/C] NM_003903,NM_001078645 CDC16,CDC16 EXON Missense_S586L,Missense_S586L exm1082904 13 115047163 [A/G] NM_023011,NM_080687 UPF3A,UPF3A EXON Missense_A17T,Missense_A17T exm1082910 13 115047271 [T/G] NM_023011,NM_080687 UPF3A,UPF3A EXON Missense_G53W,Missense_G53W exm1082913 13 115047284 [A/G] NM_023011,NM_080687 UPF3A,UPF3A EXON Missense_G57D,Missense_G57D exm1082926 13 115048398 [A/G] NM_023011,NM_080687 UPF3A,UPF3A EXON Missense_Y134C,Missense_Y134C exm1082935 13 115052084 [T/C] NM_023011,NM_080687 UPF3A,UPF3A EXON Missense_A204V,Missense_A171V exm1082947 13 115064339 [T/G] NM_023011,NM_080687 UPF3A,UPF3A EXON Nonsense_E291X,Nonsense_E258X exm1082959 13 115067206 [A/G] NM_023011,NM_080687 UPF3A,UPF3A EXON Synonymous_T336T,Synonymous_T303T exm1082996 13 115089811 [T/C] NM_032436,NM_001164145,NM_001164144 CHAMP1,CHAMP1,CHAMP1 EXON Missense_P165L,Missense_P165L,Missense_P165L exm1083002 13 115089994 [A/G] NM_032436,NM_001164145,NM_001164144 CHAMP1,CHAMP1,CHAMP1 EXON Missense_K226R,Missense_K226R,Missense_K226R exm1083007 13 115090072 [T/C] NM_032436,NM_001164145,NM_001164144 CHAMP1,CHAMP1,CHAMP1 EXON Missense_A252V,Missense_A252V,Missense_A252V exm1083011 13 115090131 [T/C] NM_032436,NM_001164145,NM_001164144 CHAMP1,CHAMP1,CHAMP1 EXON Missense_R272W,Missense_R272W,Missense_R272W exm2251337 13 115090193 [A/G] NM_032436,NM_001164145,NM_001164144 CHAMP1,CHAMP1,CHAMP1 EXON Synonymous_P292P,Synonymous_P292P,Synonymous_P292P exm1083014 13 115090204 [T/C] NM_032436,NM_001164145,NM_001164144 CHAMP1,CHAMP1,CHAMP1 EXON Missense_V296A,Missense_V296A,Missense_V296A exm1083050 13 115090939 [T/C] NM_032436,NM_001164145,NM_001164144 CHAMP1,CHAMP1,CHAMP1 EXON Missense_A541V,Missense_A541V,Missense_A541V exm1083051 13 115090981 [A/G] NM_032436,NM_001164145,NM_001164144 CHAMP1,CHAMP1,CHAMP1 EXON Missense_R555Q,Missense_R555Q,Missense_R555Q exm1083053 13 115091008 [G/C] NM_032436,NM_001164145,NM_001164144 CHAMP1,CHAMP1,CHAMP1 EXON Missense_P564R,Missense_P564R,Missense_P564R exm1083054 13 115091019 [G/C] NM_032436,NM_001164145,NM_001164144 CHAMP1,CHAMP1,CHAMP1 EXON Missense_L568V,Missense_L568V,Missense_L568V exm1083056 13 115091073 [T/G] NM_032436,NM_001164145,NM_001164144 CHAMP1,CHAMP1,CHAMP1 EXON Missense_A586S,Missense_A586S,Missense_A586S exm1083067 13 115091330 [C/G] NM_032436,NM_001164145,NM_001164144 CHAMP1,CHAMP1,CHAMP1 EXON Missense_M671I,Missense_M671I,Missense_M671I exm1083290 14 20215615 [T/C] NM_172194 OR4Q3 EXON Missense_T10I exm1083292 14 20215649 [A/G] NM_172194 OR4Q3 EXON Nonsense_W21X exm1083314 14 20215973 [A/C] NM_172194 OR4Q3 EXON Missense_N129K exm1083323 14 20216010 [T/C] NM_172194 OR4Q3 EXON Missense_C142R exm1083351 14 20216352 [A/G] NM_172194 OR4Q3 EXON Missense_V256I exm1083366 14 20248611 [T/C] NM_001005500 OR4M1 EXON Missense_L44F exm1083370 14 20248671 [A/G] NM_001005500 OR4M1 EXON Missense_A64T exm1806942 14 20248768 [G/C] NM_001005500 OR4M1 EXON Missense_G96A exm2274670 14 20248846 [A/G] NM_001005500 OR4M1 EXON Missense_R122H exm1083396 14 20249092 [A/G] NM_001005500 OR4M1 EXON Missense_G204D exm1083408 14 20249266 [A/G] NM_001005500 OR4M1 EXON Missense_R262H exm1083409 14 20249286 [G/C] NM_001005500 OR4M1 EXON Missense_L269V exm1083412 14 20249316 [A/G] NM_001005500 OR4M1 EXON Missense_V279I exm1083414 14 20249407 [T/G] NM_001005500 OR4M1 EXON Missense_L309W exm1083420 14 20295627 [C/G] NM_001004723 OR4N2 EXON Missense_T7R exm1083426 14 20295704 [A/C] NM_001004723 OR4N2 EXON Missense_I33L exm1083449 14 20295980 [A/G] NM_001004723 OR4N2 EXON Missense_A125T exm1083474 14 20296282 [A/G] NM_001004723 OR4N2 EXON Missense_I225M exm1083492 14 20296473 [T/C] NM_001004723 OR4N2 EXON Missense_L289P exm1083503 14 20344442 [A/G] NM_001005501 OR4K2 EXON Missense_K6E exm1083505 14 20344547 [A/G] NM_001005501 OR4K2 EXON Missense_G41S exm1083507 14 20344578 [T/C] NM_001005501 OR4K2 EXON Missense_V51A exm1083508 14 20344580 [A/G] NM_001005501 OR4K2 EXON Missense_D52N exm1806981 14 20344592 [T/C] NM_001005501 OR4K2 EXON Missense_H56Y exm1083520 14 20344655 [A/G] NM_001005501 OR4K2 EXON Missense_A77T exm1083523 14 20344715 [T/C] NM_001005501 OR4K2 EXON Missense_C97R exm1083524 14 20344730 [T/C] NM_001005501 OR4K2 EXON Missense_F102L exm1083528 14 20344799 [A/G] NM_001005501 OR4K2 EXON Missense_A125T exm1083531 14 20344854 [T/C] NM_001005501 OR4K2 EXON Missense_A143V exm1083538 14 20345031 [A/C] NM_001005501 OR4K2 EXON Missense_T202K exm1083544 14 20345087 [T/G] NM_001005501 OR4K2 EXON Missense_V221F exm1083545 14 20345088 [T/C] NM_001005501 OR4K2 EXON Missense_V221A exm1083547 14 20345142 [A/C] NM_001005501 OR4K2 EXON Missense_T239N exm1083550 14 20345205 [A/G] NM_001005501 OR4K2 EXON Nonsense_W260X exm1083564 14 20388769 [T/G] NM_001005483 OR4K5 EXON Missense_D2Y exm1083571 14 20388953 [T/C] NM_001005483 OR4K5 EXON Missense_L63S exm1083572 14 20388960 [A/C] NM_001005483 OR4K5 EXON Missense_N65K exm1806994 14 20388973 [T/G] NM_001005483 OR4K5 EXON Missense_D70Y exm1083576 14 20388979 [T/C] NM_001005483 OR4K5 EXON Missense_C72R exm1083577 14 20388995 [T/C] NM_001005483 OR4K5 EXON Missense_A77V exm1083581 14 20389039 [A/G] NM_001005483 OR4K5 EXON Missense_I92V exm1083582 14 20389079 [A/C] NM_001005483 OR4K5 EXON Missense_H105P exm1083583 14 20389115 [T/C] NM_001005483 OR4K5 EXON Missense_S117L exm1083589 14 20389177 [T/C] NM_001005483 OR4K5 EXON Nonsense_R138X exm1083593 14 20389241 [A/G] NM_001005483 OR4K5 EXON Missense_Q159R exm1083596 14 20389285 [A/G] NM_001005483 OR4K5 EXON Missense_V174I exm1083601 14 20389402 [T/C] NM_001005483 OR4K5 EXON Missense_L213F exm1083608 14 20389529 [T/C] NM_001005483 OR4K5 EXON Missense_I255T exm1083609 14 20389541 [T/C] NM_001005483 OR4K5 EXON Missense_V259A exm1083610 14 20389543 [T/C] NM_001005483 OR4K5 EXON Missense_W260R exm1083616 14 20389606 [A/G] NM_001005483 OR4K5 EXON Missense_V281I exm1806999 14 20389616 [T/C] NM_001005483 OR4K5 EXON Missense_P284L exm1083618 14 20389628 [T/C] NM_001005483 OR4K5 EXON Missense_T288I exm1083622 14 20389691 [T/G] NM_001005483 OR4K5 EXON Missense_R309M exm1083636 14 20404046 [G/C] NM_001004063 OR4K1 EXON Missense_S74C exm1083638 14 20404076 [T/A] NM_001004063 OR4K1 EXON Missense_D84V exm1083641 14 20404090 [T/C] NM_001004063 OR4K1 EXON Missense_R89C exm1083649 14 20404238 [A/G] NM_001004063 OR4K1 EXON Missense_R138Q exm1083654 14 20404282 [A/G] NM_001004063 OR4K1 EXON Missense_V153I exm1083657 14 20404331 [C/G] NM_001004063 OR4K1 EXON Missense_C169S exm1083658 14 20404340 [A/G] NM_001004063 OR4K1 EXON Missense_N172S exm1083662 14 20404376 [T/G] NM_001004063 OR4K1 EXON Missense_V184G exm1083665 14 20404390 [T/C] NM_001004063 OR4K1 EXON Missense_C189R exm1083668 14 20404395 [A/G] NM_001004063 OR4K1 EXON Missense_M190I exm1083670 14 20404427 [T/C] NM_001004063 OR4K1 EXON Missense_T201M exm1083675 14 20404495 [A/G] NM_001004063 OR4K1 EXON Missense_G224S exm1083676 14 20404501 [T/C] NM_001004063 OR4K1 EXON Nonsense_R226X exm1083682 14 20404614 [A/C] NM_001004063 OR4K1 EXON Missense_S263R exm1083683 14 20404671 [C/G] NM_001004063 OR4K1 EXON Missense_L282F exm1083689 14 20404736 [A/G] NM_001004063 OR4K1 EXON Missense_R304H exm1083697 14 20443751 [T/G] NM_001005486 OR4K15 EXON Missense_M25R exm1083698 14 20443757 [A/G] NM_001005486 OR4K15 EXON Missense_E27G exm1083711 14 20444012 [A/T] NM_001005486 OR4K15 EXON Missense_E112V exm1083717 14 20444162 [A/G] NM_001005486 OR4K15 EXON Missense_R162H exm1083719 14 20444182 [G/C] NM_001005486 OR4K15 EXON Missense_V169L exm1083722 14 20444236 [A/G] NM_001005486 OR4K15 EXON Missense_T187A exm2272150 14 20452460 [T/C] exm1083759 14 20482425 [T/G] NM_001004712 OR4K14 EXON Missense_Q310K exm1083760 14 20482440 [A/G] NM_001004712 OR4K14 EXON Nonsense_R305X exm1083764 14 20482511 [A/G] NM_001004712 OR4K14 EXON Missense_P281L exm1083769 14 20482613 [A/G] NM_001004712 OR4K14 EXON Missense_V247A exm1807056 14 20482835 [T/C] NM_001004712 OR4K14 EXON Missense_N173S exm1083785 14 20482898 [A/G] NM_001004712 OR4K14 EXON Missense_V152A exm1083787 14 20482919 [A/C] NM_001004712 OR4K14 EXON Missense_L145R exm1083793 14 20482998 [T/C] NM_001004712 OR4K14 EXON Missense_M119V exm1083806 14 20483291 [T/C] NM_001004712 OR4K14 EXON Missense_R21Q exm1083810 14 20502032 [G/C] NM_001004714 OR4K13 EXON Missense_A296P exm1083811 14 20502044 [T/G] NM_001004714 OR4K13 EXON Missense_Q292K exm1083814 14 20502070 [T/C] NM_001004714 OR4K13 EXON Missense_N283S exm1083818 14 20502109 [T/A] NM_001004714 OR4K13 EXON Missense_I270N exm1083833 14 20502331 [T/C] NM_001004714 OR4K13 EXON Missense_Q196R exm1083834 14 20502341 [A/T] NM_001004714 OR4K13 EXON Missense_Y193N exm1083836 14 20502389 [A/T] NM_001004714 OR4K13 EXON Missense_F177I exm1083839 14 20502442 [T/C] NM_001004714 OR4K13 EXON Missense_Q159R exm1083848 14 20502506 [C/G] NM_001004714 OR4K13 EXON Missense_P138A exm1083849 14 20502538 [T/C] NM_001004714 OR4K13 EXON Missense_C127Y exm1083852 14 20502602 [A/G] NM_001004714 OR4K13 EXON Missense_L106F exm1083853 14 20502614 [A/T] NM_001004714 OR4K13 EXON Missense_F102I exm1807085 14 20502633 [T/C] NM_001004714 OR4K13 EXON Nonsense_W95X exm1083855 14 20502652 [T/C] NM_001004714 OR4K13 EXON Missense_R89H exm1083856 14 20502653 [A/G] NM_001004714 OR4K13 EXON Missense_R89C exm1083857 14 20502659 [A/G] NM_001004714 OR4K13 EXON Nonsense_R87X exm1083862 14 20502779 [T/C] NM_001004714 OR4K13 EXON Missense_V47M exm1083867 14 20502866 [A/C] NM_001004714 OR4K13 EXON Missense_S18A exm1083869 14 20528207 [A/G] NM_001004717 OR4L1 EXON Missense_D2N exm1083872 14 20528250 [T/G] NM_001004717 OR4L1 EXON Missense_G16V exm2276309 14 20528309 [A/G] NM_001004717 OR4L1 EXON Missense_G36S exm1083876 14 20528321 [A/G] NM_001004717 OR4L1 EXON Missense_M40V exm1083879 14 20528359 [T/G] NM_001004717 OR4L1 EXON Missense_R52S exm1083895 14 20528528 [A/G] NM_001004717 OR4L1 EXON Missense_G109S exm1083896 14 20528540 [A/G] NM_001004717 OR4L1 EXON Missense_T113A exm1083897 14 20528558 [A/G] NM_001004717 OR4L1 EXON Missense_A119T exm1083904 14 20528669 [A/T] NM_001004717 OR4L1 EXON Missense_S156T exm1083905 14 20528682 [T/C] NM_001004717 OR4L1 EXON Missense_I160T exm1807106 14 20528769 [A/G] NM_001004717 OR4L1 EXON Missense_C189Y exm1083906 14 20528772 [T/C] NM_001004717 OR4L1 EXON Missense_I190T exm1083911 14 20528831 [T/G] NM_001004717 OR4L1 EXON Missense_C210G exm1083916 14 20528916 [T/C] NM_001004717 OR4L1 EXON Missense_S238F exm1083925 14 20529089 [A/G] NM_001004717 OR4L1 EXON Missense_E296K exm1083928 14 20529108 [A/G] NM_001004717 OR4L1 EXON Missense_R302Q exm1083930 14 20529131 [A/C] NM_001004717 OR4L1 EXON Missense_Q310K exm1083935 14 20585584 [C/G] NM_001004715 OR4K17 EXON Missense_L7V exm1083941 14 20585675 [T/A] NM_001004715 OR4K17 EXON Missense_Q37L exm1083943 14 20585689 [A/G] NM_001004715 OR4K17 EXON Missense_E42K exm1083956 14 20585842 [T/C] NM_001004715 OR4K17 EXON Missense_L93F exm1083958 14 20585924 [A/G] NM_001004715 OR4K17 EXON Missense_Q120R exm1083960 14 20585958 [T/G] NM_001004715 OR4K17 EXON Missense_Q131H exm1083963 14 20586042 [C/G] NM_001004715 OR4K17 EXON Missense_K159N exm2222157 14 20586173 [A/G] NM_001004715 OR4K17 EXON Missense_N203S exm1807128 14 20586445 [A/G] NM_001004715 OR4K17 EXON Missense_G294S exm1083986 14 20611895 [A/G] NM_001004724 OR4N5 EXON Missense_M1V exm1083988 14 20612015 [A/G] NM_001004724 OR4N5 EXON Missense_G41R exm1084000 14 20612228 [A/G] NM_001004724 OR4N5 EXON Missense_M112V exm1084004 14 20612267 [A/G] NM_001004724 OR4N5 EXON Missense_A125T exm1084006 14 20612286 [A/G] NM_001004724 OR4N5 EXON Missense_H131R exm1084011 14 20612327 [T/C] NM_001004724 OR4N5 EXON Missense_S145P exm1084018 14 20612465 [A/G] NM_001004724 OR4N5 EXON Missense_N191D exm1084022 14 20612532 [A/G] NM_001004724 OR4N5 EXON Missense_G213D exm1084026 14 20612565 [A/G] NM_001004724 OR4N5 EXON Missense_R224H exm1084027 14 20612595 [C/G] NM_001004724 OR4N5 EXON Missense_S234T exm1084037 14 20612672 [T/C] NM_001004724 OR4N5 EXON Missense_C260R exm1084038 14 20612673 [T/G] NM_001004724 OR4N5 EXON Missense_C260F exm1084041 14 20612757 [T/C] NM_001004724 OR4N5 EXON Missense_T288M exm1084043 14 20612762 [C/G] NM_001004724 OR4N5 EXON Missense_R290G exm1084044 14 20612763 [A/G] NM_001004724 OR4N5 EXON Missense_R290H exm1084045 14 20612769 [A/G] NM_001004724 OR4N5 EXON Missense_Q292R exm1084050 14 20612813 [T/C] NM_001004724 OR4N5 EXON Missense_F307L exm1084052 14 20665530 [A/T] NM_001005503 OR11G2 EXON Missense_N12K exm1084053 14 20665538 [T/C] NM_001005503 OR11G2 EXON Missense_P15L exm1084055 14 20665556 [A/G] NM_001005503 OR11G2 EXON Missense_R21H exm1084056 14 20665559 [T/A] NM_001005503 OR11G2 EXON Missense_H22L exm1084064 14 20665627 [A/G] NM_001005503 OR11G2 EXON Missense_S45G exm1084070 14 20665790 [A/T] NM_001005503 OR11G2 EXON Missense_I99N exm1084075 14 20665840 [A/G] NM_001005503 OR11G2 EXON Missense_V116I exm1084078 14 20665878 [G/C] NM_001005503 OR11G2 EXON Missense_K128N exm1084086 14 20666041 [A/G] NM_001005503 OR11G2 EXON Missense_V183M exm1084095 14 20666275 [A/G] NM_001005503 OR11G2 EXON Missense_R261G exm1084099 14 20666476 [T/C] NM_001005503 OR11G2 EXON Missense_Y328H exm1084106 14 20691881 [A/G] NM_001004480 OR11H6 EXON Missense_I5V exm1084107 14 20691888 [A/C] NM_001004480 OR11H6 EXON Missense_S7Y exm1084109 14 20691962 [G/C] NM_001004480 OR11H6 EXON Missense_L32V exm1084110 14 20691992 [A/C] NM_001004480 OR11H6 EXON Missense_Q42K exm1084114 14 20692044 [A/G] NM_001004480 OR11H6 EXON Missense_G59E exm1084118 14 20692098 [A/T] NM_001004480 OR11H6 EXON Missense_M77K exm1084123 14 20692188 [T/C] NM_001004480 OR11H6 EXON Missense_I107T exm1084131 14 20692305 [A/G] NM_001004480 OR11H6 EXON Missense_R146H exm1807159 14 20692334 [A/G] NM_001004480 OR11H6 EXON Missense_G156R exm1084132 14 20692353 [T/C] NM_001004480 OR11H6 EXON Missense_L162P exm1084133 14 20692369 [A/G] NM_001004480 OR11H6 EXON Nonsense_W167X exm1084135 14 20692403 [T/G] NM_001004480 OR11H6 EXON Missense_V179F exm1084138 14 20692453 [T/G] NM_001004480 OR11H6 EXON Missense_L195F exm1084142 14 20692499 [T/C] NM_001004480 OR11H6 EXON Missense_P211S exm1084146 14 20692574 [T/C] NM_001004480 OR11H6 EXON Missense_Y236H exm1084147 14 20692595 [G/C] NM_001004480 OR11H6 EXON Missense_V243L exm1084150 14 20692643 [T/C] NM_001004480 OR11H6 EXON Missense_C259R exm1084158 14 20692758 [C/G] NM_001004480 OR11H6 EXON Missense_T297R exm1084160 14 20692799 [T/C] NM_001004480 OR11H6 EXON Nonsense_R311X exm1084161 14 20692800 [T/G] NM_001004480 OR11H6 EXON Missense_R311L exm1084167 14 20711005 [A/G] NM_001004479 OR11H4 EXON Missense_V19M exm1084169 14 20711026 [A/G] NM_001004479 OR11H4 EXON Missense_G26R exm1084174 14 20711121 [A/T] NM_001004479 OR11H4 EXON Nonsense_Y57X exm1084175 14 20711126 [T/C] NM_001004479 OR11H4 EXON Missense_V59A exm1084177 14 20711179 [C/G] NM_001004479 OR11H4 EXON Missense_A77P exm1084183 14 20711272 [T/C] NM_001004479 OR11H4 EXON Missense_F108L exm1084184 14 20711344 [C/G] NM_001004479 OR11H4 EXON Missense_R132G exm1084194 14 20711524 [G/C] NM_001004479 OR11H4 EXON Missense_D192H exm1084202 14 20711665 [T/C] NM_001004479 OR11H4 EXON Missense_P239S exm1084203 14 20711681 [A/G] NM_001004479 OR11H4 EXON Missense_R244Q exm1084205 14 20711688 [A/C] NM_001004479 OR11H4 EXON Missense_K246N exm1084209 14 20711852 [C/G] NM_001004479 OR11H4 EXON Missense_T301S exm1084210 14 20711858 [A/G] NM_001004479 OR11H4 EXON Missense_R303H exm1084213 14 20711911 [T/C] NM_001004479 OR11H4 EXON Missense_R321C exm1084218 14 20757803 [A/G] NM_138376 TTC5 EXON Nonsense_R436X exm1084221 14 20757838 [A/C] NM_138376 TTC5 EXON Missense_G424V exm1084227 14 20760285 [T/C] NM_138376 TTC5 EXON Missense_T354A exm1084230 14 20763523 [T/C] NM_138376 TTC5 EXON Missense_V336I exm1084235 14 20763603 [T/C] NM_138376 TTC5 EXON Missense_Y309C exm2222161 14 20763881 [A/G] NM_138376 TTC5 EXON Missense_L277F exm1084241 14 20763884 [T/C] NM_138376 TTC5 EXON Missense_S276G exm1084242 14 20763923 [A/G] NM_138376 TTC5 EXON Nonsense_R263X exm1084245 14 20763965 [A/G] NM_138376 TTC5 EXON Missense_R249W exm1084248 14 20764550 [A/G] NM_138376 TTC5 EXON Missense_T232M exm1084261 14 20767556 [A/G] NM_138376 TTC5 EXON Missense_R150W exm1084268 14 20770036 [T/C] NM_138376 TTC5 EXON Missense_Q47R exm1084282 14 20779741 [A/G] NM_182852,NM_182849,NM_021178 CCNB1IP1,CCNB1IP1,CCNB1IP1 EXON Missense_S268P,Missense_S268P,Missense_S268P exm1084288 14 20779822 [T/C] NM_182852,NM_182849,NM_021178 CCNB1IP1,CCNB1IP1,CCNB1IP1 EXON Missense_G241S,Missense_G241S,Missense_G241S exm1084291 14 20779879 [T/G] NM_182852,NM_182849,NM_021178 CCNB1IP1,CCNB1IP1,CCNB1IP1 EXON Missense_P222T,Missense_P222T,Missense_P222T exm1084296 14 20779909 [T/C] NM_182852,NM_182849,NM_021178 CCNB1IP1,CCNB1IP1,CCNB1IP1 EXON Missense_N212D,Missense_N212D,Missense_N212D exm1084297 14 20781665 [T/G] NM_182852,NM_182849,NM_021178 CCNB1IP1,CCNB1IP1,CCNB1IP1 EXON Missense_S198Y,Missense_S198Y,Missense_S198Y exm1084298 14 20781687 [C/G] NM_182852,NM_182849,NM_021178 CCNB1IP1,CCNB1IP1,CCNB1IP1 EXON Missense_H191D,Missense_H191D,Missense_H191D exm1084306 14 20781947 [T/C] NM_182852,NM_182849,NM_021178 CCNB1IP1,CCNB1IP1,CCNB1IP1 EXON Missense_R104H,Missense_R104H,Missense_R104H exm2251693 14 20784521 [A/G] NM_182852,NM_182849,NM_021178 CCNB1IP1,CCNB1IP1,CCNB1IP1 EXON Synonymous_T54T,Synonymous_T54T,Synonymous_T54T exm1084318 14 20784718 [T/G] NM_182852,NM_182849,NM_021178 CCNB1IP1,CCNB1IP1,CCNB1IP1 EXON Silent,Silent,Silent exm1084325 14 20811843 [A/G] NM_001042618,NM_005484 PARP2,PARP2 EXON Missense_R15G,Missense_R15G exm2272151 14 20818131 [T/C] NM_001042618,NM_005484 PARP2,PARP2 Silent,Silent exm1084337 14 20818708 [G/C] NM_001042618,NM_005484 PARP2,PARP2 EXON Missense_N116K,Missense_N129K exm1084341 14 20819224 [A/G] NM_001042618,NM_005484 PARP2,PARP2 EXON Missense_H147R,Missense_H160R exm1084342 14 20819227 [A/G] NM_001042618,NM_005484 PARP2,PARP2 EXON Missense_S148N,Missense_S161N exm1084344 14 20819248 [A/G] NM_001042618,NM_005484 PARP2,PARP2 EXON Missense_N155S,Missense_N168S exm1084348 14 20820404 [T/A] NM_001042618,NM_005484 PARP2,PARP2 EXON Missense_K166N,Missense_K179N exm1084356 14 20822256 [A/G] NM_001042618,NM_005484 PARP2,PARP2 EXON Missense_T205A,Missense_T218A exm1084359 14 20822308 [A/G] NM_001042618,NM_005484 PARP2,PARP2 EXON Missense_D222G,Missense_D235G exm1084368 14 20823033 [T/C] NM_001042618,NM_005484 PARP2,PARP2 EXON Missense_R277W,Missense_R290W exm1084369 14 20823052 [A/G] NM_001042618,NM_005484 PARP2,PARP2 EXON Missense_R283Q,Missense_R296Q exm2251694 14 20823095 [A/G] NM_001042618,NM_005484 PARP2,PARP2 EXON Synonymous_P297P,Synonymous_P310P exm1084376 14 20823934 [A/G] NM_001042618,NM_005484 PARP2,PARP2 EXON Missense_R309Q,Missense_R322Q exm1084381 14 20824158 [T/C] NM_001042618,NM_005484 PARP2,PARP2 EXON Missense_R357C,Missense_R370C exm1084382 14 20824162 [T/C] NM_001042618,NM_005484 PARP2,PARP2 EXON Missense_P358L,Missense_P371L exm2222162 14 20824822 [A/C] NM_001042618,NM_005484 PARP2,PARP2 EXON Missense_P435T,Missense_P448T exm1084413 14 20836609 [A/G] NM_007110 TEP1 EXON Missense_L2624P exm1807237 14 20836706 [A/G] NM_007110 TEP1 EXON Nonsense_R2592X exm1084426 14 20837033 [T/C] NM_007110 TEP1 EXON Missense_H2562R exm1084434 14 20837699 [A/G] NM_007110 TEP1 EXON Missense_L2487P exm1084435 14 20837701 [G/C] NM_007110 TEP1 EXON Missense_I2486M exm1084437 14 20837854 [T/C] NM_007110 TEP1 EXON Missense_T2468A exm1084446 14 20839766 [T/C] NM_007110 TEP1 EXON Missense_E2368K exm1084448 14 20839778 [A/G] NM_007110 TEP1 EXON Nonsense_R2364X exm1084455 14 20841002 [A/C] NM_007110 TEP1 EXON Missense_I2322M exm1084457 14 20841193 [A/C] NM_007110 TEP1 EXON Missense_A2310S exm1084468 14 20841456 [A/G] NM_007110 TEP1 EXON Missense_R2263W exm1084469 14 20841477 [T/C] NM_007110 TEP1 EXON Missense_A2256T exm1084471 14 20841519 [A/G] NM_007110 TEP1 EXON Missense_R2242C exm1084474 14 20841685 [T/C] NM_007110 TEP1 EXON Missense_R2221Q exm1084476 14 20841707 [T/C] NM_007110 TEP1 EXON Missense_V2214I exm1084482 14 20841909 [T/C] NM_007110 TEP1 EXON Missense_V2178M exm1084485 14 20842613 [T/C] NM_007110 TEP1 EXON Missense_S2149N exm1084501 14 20844312 [T/C] NM_007110 TEP1 EXON Missense_C2067Y exm1084502 14 20844340 [A/G] NM_007110 TEP1 EXON Missense_R2058W exm1084504 14 20844382 [A/G] NM_007110 TEP1 EXON Missense_R2044W exm1084512 14 20845770 [T/C] NM_007110 TEP1 EXON Missense_K1955R exm1084515 14 20845791 [A/G] NM_007110 TEP1 EXON Missense_A1948V exm1084517 14 20845795 [A/G] NM_007110 TEP1 EXON Nonsense_R1947X exm1084522 14 20845834 [A/C] NM_007110 TEP1 EXON Missense_A1934S exm1084524 14 20845879 [A/G] NM_007110 TEP1 EXON Missense_R1919C exm1084527 14 20846185 [T/C] NM_007110 TEP1 EXON Missense_K1907E exm1084533 14 20846235 [A/G] NM_007110 TEP1 EXON Missense_A1890V exm1084536 14 20846323 [A/G] NM_007110 TEP1 EXON Missense_R1861W exm1084543 14 20846622 [A/G] NM_007110 TEP1 EXON Missense_H1809Y exm1084547 14 20846689 [T/C] NM_007110 TEP1 EXON Nonsense_W1786X exm1084548 14 20846927 [G/C] NM_007110 TEP1 EXON Missense_G1780R exm1084549 14 20846950 [T/C] NM_007110 TEP1 EXON Missense_R1772Q exm1084567 14 20848192 [A/G] NM_007110 TEP1 EXON Missense_V1675A exm1084572 14 20848461 [A/G] NM_007110 TEP1 EXON Missense_R1646W exm2251695 14 20848471 [T/C] NM_007110 TEP1 EXON Synonymous_S1642S exm1084576 14 20848532 [T/C] NM_007110 TEP1 EXON Missense_R1622Q exm1084579 14 20848578 [A/G] NM_007110 TEP1 EXON Missense_R1607C exm1084581 14 20849104 [A/G] NM_007110 TEP1 EXON Missense_A1583V exm1084582 14 20849117 [A/G] NM_007110 TEP1 EXON Missense_R1579W exm1084585 14 20849171 [A/C] NM_007110 TEP1 EXON Missense_F1561V exm2274671 14 20849189 [A/G] NM_007110 TEP1 EXON Missense_R1555C exm1084591 14 20849494 [A/G] NM_007110 TEP1 EXON Missense_L1542P exm1084607 14 20850093 [T/C] NM_007110 TEP1 EXON Missense_C1468Y exm1084609 14 20850156 [G/C] NM_007110 TEP1 EXON Missense_S1447T exm1084610 14 20850171 [A/G] NM_007110 TEP1 EXON Missense_P1442L exm1084612 14 20850189 [T/C] NM_007110 TEP1 EXON Missense_S1436N exm1084618 14 20850434 [T/C] NM_007110 TEP1 EXON Missense_G1408R exm2274672 14 20850789 [T/C] NM_007110 TEP1 EXON Missense_Y1378C exm1084627 14 20850871 [A/G] NM_007110 TEP1 EXON Nonsense_R1351X exm1807328 14 20851708 [T/C] NM_007110 TEP1 EXON Missense_D1269G exm1084637 14 20851756 [T/C] NM_007110 TEP1 EXON Missense_E1253G exm1084641 14 20851902 [T/C] NM_007110 TEP1 EXON Missense_R1237Q exm1084645 14 20851963 [A/G] NM_007110 TEP1 EXON Missense_R1217C exm1084650 14 20852024 [T/A] NM_007110 TEP1 EXON Missense_L1196F exm1084651 14 20852029 [A/G] NM_007110 TEP1 EXON Missense_S1195P exm1084656 14 20852255 [T/G] NM_007110 TEP1 EXON Missense_P1159H exm1084657 14 20852267 [T/C] NM_007110 TEP1 EXON Missense_R1155Q exm2251696 14 20852290 [A/G] NM_007110 TEP1 EXON Synonymous_R1147R exm1084663 14 20852309 [A/G] NM_007110 TEP1 EXON Missense_P1141L exm1084664 14 20852352 [T/C] NM_007110 TEP1 EXON Missense_D1127N exm1084678 14 20852762 [T/C] NM_007110 TEP1 EXON Missense_R1073H exm1084682 14 20852817 [A/G] NM_007110 TEP1 EXON Missense_R1055C exm1084687 14 20853199 [A/G] NM_007110 TEP1 EXON Missense_R1018C exm1084688 14 20853208 [A/G] NM_007110 TEP1 EXON Missense_R1015W exm1084694 14 20854290 [A/G] NM_007110 TEP1 EXON Missense_R976C exm1084699 14 20854625 [T/C] NM_007110 TEP1 EXON Missense_E948K exm1084701 14 20854669 [T/C] NM_007110 TEP1 EXON Missense_R933H exm1084703 14 20854676 [A/G] NM_007110 TEP1 EXON Missense_P931S exm1084710 14 20854769 [A/G] NM_007110 TEP1 EXON Missense_R900W exm1084714 14 20856082 [A/G] NM_007110 TEP1 EXON Missense_A889V exm1084725 14 20857838 [T/C] NM_007110 TEP1 EXON Missense_Q799R exm1084727 14 20858870 [A/G] NM_007110 TEP1 EXON Synonymous_Y768Y exm1084740 14 20859251 [A/G] NM_007110 TEP1 EXON Missense_P701L exm1084741 14 20859780 [T/C] NM_007110 TEP1 EXON Missense_C692Y exm1084747 14 20859870 [A/G] NM_007110 TEP1 EXON Missense_A662V exm1084768 14 20864781 [G/C] NM_007110 TEP1 EXON Missense_A553G exm1084771 14 20864818 [A/G] NM_007110 TEP1 EXON Missense_R541C exm1084781 14 20869163 [A/G] NM_007110 TEP1 EXON Missense_S510L exm1084782 14 20869194 [A/G] NM_007110 TEP1 EXON Missense_R500W exm1084788 14 20869272 [A/G] NM_007110 TEP1 EXON Nonsense_R474X exm1084790 14 20869286 [A/G] NM_007110 TEP1 EXON Missense_L469P exm1084794 14 20869705 [A/C] NM_007110 TEP1 EXON Missense_K434N exm1084795 14 20869727 [T/C] NM_007110 TEP1 EXON Missense_G427D exm1084801 14 20871609 [T/C] NM_007110 TEP1 Silent exm1084806 14 20871919 [T/C] NM_007110 TEP1 EXON Missense_R386Q exm1084812 14 20871968 [A/C] NM_007110 TEP1 EXON Missense_A370S exm1084813 14 20871973 [T/C] NM_007110 TEP1 EXON Missense_K368R exm1084814 14 20871991 [T/C] NM_007110 TEP1 EXON Missense_R362H exm1084815 14 20872001 [T/C] NM_007110 TEP1 EXON Missense_A359T exm1807391 14 20872015 [A/G] NM_007110 TEP1 EXON Missense_L354P exm1084819 14 20872834 [T/C] NM_007110 TEP1 EXON Missense_R323Q exm1084822 14 20872841 [A/G] NM_007110 TEP1 EXON Missense_H321Y exm1084826 14 20872881 [T/G] NM_007110 TEP1 EXON Missense_N307K exm1084827 14 20872889 [T/C] NM_007110 TEP1 EXON Missense_A305T exm1084836 14 20873695 [A/G] NM_007110 TEP1 EXON Missense_M262T exm1084854 14 20876171 [T/C] NM_007110 TEP1 EXON Missense_R143H exm1084858 14 20876189 [A/G] NM_007110 TEP1 EXON Missense_T137M exm1084860 14 20876253 [A/G] NM_007110 TEP1 EXON Missense_S116P exm1084862 14 20876282 [A/G] NM_007110 TEP1 EXON Missense_S106F exm1084876 14 20876438 [A/G] NM_007110 TEP1 EXON Missense_T54M exm1084884 14 20876621 [A/G] NM_007110 TEP1 EXON Silent exm1084894 14 20897183 [T/C] NM_001109997 KLHL33 EXON Missense_R476H exm1084898 14 20897390 [A/G] NM_001109997 KLHL33 EXON Missense_P407L exm1084900 14 20897414 [A/G] NM_001109997 KLHL33 EXON Missense_T399M exm1084905 14 20897676 [T/C] NM_001109997 KLHL33 EXON Missense_E345G exm1084909 14 20897954 [T/C] NM_001109997 KLHL33 EXON Missense_R294K exm1084911 14 20898030 [C/G] NM_001109997 KLHL33 EXON Missense_L269V exm1084918 14 20898174 [T/G] NM_001109997 KLHL33 EXON Missense_P221T exm1084924 14 20898338 [T/C] NM_001109997 KLHL33 EXON Missense_R166H exm2274673 14 20898347 [T/C] NM_001109997 KLHL33 EXON Missense_R163H exm1084926 14 20898434 [T/A] NM_001109997 KLHL33 EXON Missense_F134Y exm2222172 14 20898579 [G/C] NM_001109997 KLHL33 EXON Missense_G86R exm2222173 14 20915434 [A/G] NM_017807 OSGEP EXON Missense_R325W exm1084952 14 20916300 [T/C] NM_017807 OSGEP EXON Missense_E223K exm1084963 14 20917124 [A/G] NM_017807 OSGEP EXON Nonsense_R186X exm1084971 14 20920162 [T/C] NM_017807 OSGEP EXON Missense_V128M exm1084974 14 20920189 [A/G] NM_017807 OSGEP EXON Missense_L119F exm1084976 14 20920216 [A/G] NM_017807 OSGEP EXON Missense_C110R exm1084983 14 20920511 [A/G] NM_017807 OSGEP EXON Missense_I71T exm1084984 14 20920520 [T/G] NM_017807 OSGEP EXON Missense_S68Y exm2274674 14 20923826 [A/G] NM_080648,NM_001244249,NM_001641,NM_080649 APEX1,APEX1,APEX1,APEX1 EXON Missense_G8R,Missense_G8R,Missense_G8R,Missense_G8R exm1084991 14 20924076 [T/C] NM_080648,NM_001244249,NM_001641,NM_080649 APEX1,APEX1,APEX1,APEX1 EXON Missense_P21L,Missense_P21L,Missense_P21L,Missense_P21L exm1084993 14 20924117 [A/C] NM_080648,NM_001244249,NM_001641,NM_080649 APEX1,APEX1,APEX1,APEX1 EXON Missense_K35Q,Missense_K35Q,Missense_K35Q,Missense_K35Q exm1084995 14 20924167 [G/C] NM_080648,NM_001244249,NM_001641,NM_080649 APEX1,APEX1,APEX1,APEX1 EXON Missense_Q51H,Missense_Q51H,Missense_Q51H,Missense_Q51H exm1084998 14 20924204 [A/G] NM_080648,NM_001244249,NM_001641,NM_080649 APEX1,APEX1,APEX1,APEX1 EXON Missense_I64V,Missense_I64V,Missense_I64V,Missense_I64V exm2222176 14 20925001 [A/G] NM_080648,NM_001244249,NM_001641,NM_080649 APEX1,APEX1,APEX1,APEX1 EXON Missense_K141E,Missense_K141E,Missense_K141E,Missense_K141E exm1085010 14 20925016 [A/G] NM_080648,NM_001244249,NM_001641,NM_080649 APEX1,APEX1,APEX1,APEX1 EXON Missense_I146V,Missense_I146V,Missense_I146V,Missense_I146V exm1085011 14 20925154 [T/G] NM_080648,NM_001244249,NM_001641,NM_080649 APEX1,APEX1,APEX1,APEX1 EXON Missense_D148E,Missense_D148E,Missense_D148E,Missense_D148E exm1085012 14 20925199 [C/G] NM_080648,NM_001244249,NM_001641,NM_080649 APEX1,APEX1,APEX1,APEX1 EXON Missense_D163E,Missense_D163E,Missense_D163E,Missense_D163E exm1085017 14 20925270 [A/G] NM_080648,NM_001244249,NM_001641,NM_080649 APEX1,APEX1,APEX1,APEX1 EXON Missense_R187H,Missense_R187H,Missense_R187H,Missense_R187H exm1085022 14 20925374 [A/C] NM_080648,NM_001244249,NM_001641,NM_080649 APEX1,APEX1,APEX1,APEX1 EXON Missense_N222H,Missense_N222H,Missense_N222H,Missense_N222H exm1085023 14 20925431 [A/G] NM_080648,NM_001244249,NM_001641,NM_080649 APEX1,APEX1,APEX1,APEX1 EXON Missense_G241R,Missense_G241R,Missense_G241R,Missense_G241R exm1085024 14 20925453 [T/C] NM_080648,NM_001244249,NM_001641,NM_080649 APEX1,APEX1,APEX1,APEX1 EXON Missense_P248L,Missense_P248L,Missense_P248L,Missense_P248L exm1085038 14 20926774 [A/G] NM_001100814,NM_144568 TMEM55B,TMEM55B EXON Missense_R267W,Missense_R260W exm1085045 14 20927370 [A/G] NM_001100814,NM_144568 TMEM55B,TMEM55B EXON Missense_L236F,Missense_L229F exm1085047 14 20927414 [A/C] NM_001100814,NM_144568 TMEM55B,TMEM55B EXON Missense_C221F,Missense_C214F exm1085048 14 20927442 [A/G] NM_001100814,NM_144568 TMEM55B,TMEM55B EXON Missense_R212C,Missense_R205C exm1085067 14 20928947 [C/G] NM_001100814,NM_144568 TMEM55B,TMEM55B EXON Missense_P74R,Missense_P67R exm1085069 14 20929002 [A/G] NM_001100814,NM_144568 TMEM55B,TMEM55B EXON Missense_F56L,Missense_F49L exm1085073 14 20929385 [A/G] NM_001100814,NM_144568 TMEM55B,TMEM55B EXON Missense_P34S,Missense_P34S exm1085075 14 20940468 [T/C] NM_000270 PNP EXON Missense_Y5H exm1085079 14 20940606 [A/G] NM_000270 PNP EXON Missense_G51S exm1085089 14 20943228 [A/G] NM_000270 PNP EXON Missense_D157N exm1085090 14 20943241 [T/C] NM_000270 PNP EXON Missense_A161V exm1085095 14 20943408 [A/G] NM_000270 PNP EXON Missense_V217I exm1085098 14 20944569 [A/G] NM_000270 PNP EXON Missense_V227I exm-rs12147450 14 20957433 [T/C] exm2251697 14 20960168 [T/C] exm1085106 14 20978641 [A/G] NM_001012975 RNASE10 EXON Missense_N4S exm2222177 14 20978670 [A/C] NM_001012975 RNASE10 EXON Missense_M14L exm1085108 14 20978721 [A/G] NM_001012975 RNASE10 EXON Missense_T31A exm1085110 14 20978738 [T/G] NM_001012975 RNASE10 EXON Missense_E36D exm1085118 14 20978889 [A/G] NM_001012975 RNASE10 EXON Missense_G87S exm1085123 14 20978969 [C/G] NM_001012975 RNASE10 EXON Missense_D113E exm1085125 14 20979022 [A/G] NM_001012975 RNASE10 EXON Missense_S131N exm1085130 14 20979258 [T/C] NM_001012975 RNASE10 EXON Missense_R210C exm1085134 14 21024618 [A/G] NM_001110357,NM_001110356,NM_001110359,NM_001110360,NM_001001673,NM_001110358,NM_001110361 RNASE9,RNASE9,RNASE9,RNASE9,RNASE9,RNASE9,RNASE9 EXON Missense_S204L,Missense_S204L,Missense_R246C,Missense_R246C,Missense_S204L,Missense_R221C,Missense_R221C exm1085135 14 21024619 [A/G] NM_001110357,NM_001110356,NM_001110359,NM_001110360,NM_001001673,NM_001110358,NM_001110361 RNASE9,RNASE9,RNASE9,RNASE9,RNASE9,RNASE9,RNASE9 EXON Missense_S204P,Missense_S204P,Synonymous_Y245Y,Synonymous_Y245Y,Missense_S204P,Synonymous_Y220Y,Synonymous_Y220Y exm1085139 14 21024699 [T/C] NM_001110357,NM_001110356,NM_001110359,NM_001110360,NM_001001673,NM_001110358,NM_001110361 RNASE9,RNASE9,RNASE9,RNASE9,RNASE9,RNASE9,RNASE9 EXON Missense_R177H,Missense_R177H,Missense_V219I,Missense_V219I,Missense_R177H,Missense_V194I,Missense_V194I exm1085146 14 21024786 [A/G] NM_001110357,NM_001110356,NM_001110359,NM_001110360,NM_001001673,NM_001110358,NM_001110361 RNASE9,RNASE9,RNASE9,RNASE9,RNASE9,RNASE9,RNASE9 EXON Missense_F148S,Missense_F148S,Synonymous_L190L,Synonymous_L190L,Missense_F148S,Synonymous_L165L,Synonymous_L165L exm1085149 14 21024817 [T/C] NM_001110357,NM_001110356,NM_001110359,NM_001110360,NM_001001673,NM_001110358,NM_001110361 RNASE9,RNASE9,RNASE9,RNASE9,RNASE9,RNASE9,RNASE9 EXON Missense_E138K,Missense_E138K,Synonymous_X179X,Synonymous_X179X,Missense_E138K,Synonymous_X154X,Synonymous_X154X exm1085152 14 21024862 [A/G] NM_001110357,NM_001110356,NM_001110359,NM_001110360,NM_001001673,NM_001110358,NM_001110361 RNASE9,RNASE9,RNASE9,RNASE9,RNASE9,RNASE9,RNASE9 EXON Missense_C123R,Missense_C123R,Synonymous_H164H,Synonymous_H164H,Missense_C123R,Synonymous_H139H,Synonymous_H139H exm1085154 14 21024921 [T/C] NM_001110357,NM_001110356,NM_001110359,NM_001110360,NM_001001673,NM_001110358,NM_001110361 RNASE9,RNASE9,RNASE9,RNASE9,RNASE9,RNASE9,RNASE9 EXON Missense_Y103C,Missense_Y103C,Missense_T145A,Missense_T145A,Missense_Y103C,Missense_T120A,Missense_T120A exm1085155 14 21024930 [A/G] NM_001110357,NM_001110356,NM_001110359,NM_001110360,NM_001001673,NM_001110358,NM_001110361 RNASE9,RNASE9,RNASE9,RNASE9,RNASE9,RNASE9,RNASE9 EXON Missense_A100V,Missense_A100V,Nonsense_Q142X,Nonsense_Q142X,Missense_A100V,Nonsense_Q117X,Nonsense_Q117X exm1807494 14 21024937 [A/G] NM_001110357,NM_001110356,NM_001110359,NM_001110360,NM_001001673,NM_001110358,NM_001110361 RNASE9,RNASE9,RNASE9,RNASE9,RNASE9,RNASE9,RNASE9 EXON Missense_W98R,Missense_W98R,Synonymous_V139V,Synonymous_V139V,Missense_W98R,Synonymous_V114V,Synonymous_V114V exm1085157 14 21024940 [A/G] NM_001110357,NM_001110356,NM_001110359,NM_001110360,NM_001001673,NM_001110358,NM_001110361 RNASE9,RNASE9,RNASE9,RNASE9,RNASE9,RNASE9,RNASE9 EXON Missense_R97C,Missense_R97C,Synonymous_T138T,Synonymous_T138T,Missense_R97C,Synonymous_T113T,Synonymous_T113T exm1085161 14 21025026 [T/C] NM_001110357,NM_001110356,NM_001110359,NM_001110360,NM_001001673,NM_001110358,NM_001110361 RNASE9,RNASE9,RNASE9,RNASE9,RNASE9,RNASE9,RNASE9 EXON Missense_R68H,Missense_R68H,Missense_V110M,Missense_V110M,Missense_R68H,Missense_V85M,Missense_V85M exm1085162 14 21025081 [T/G] NM_001110357,NM_001110356,NM_001110359,NM_001110360,NM_001001673,NM_001110358,NM_001110361 RNASE9,RNASE9,RNASE9,RNASE9,RNASE9,RNASE9,RNASE9 EXON Missense_K50Q,Missense_K50Q,Missense_K91N,Missense_K91N,Missense_K50Q,Missense_K66N,Missense_K66N exm1085163 14 21025107 [T/G] NM_001110357,NM_001110356,NM_001110359,NM_001110360,NM_001001673,NM_001110358,NM_001110361 RNASE9,RNASE9,RNASE9,RNASE9,RNASE9,RNASE9,RNASE9 EXON Missense_K41T,Missense_K41T,Missense_K83Q,Missense_K83Q,Missense_K41T,Missense_K58Q,Missense_K58Q exm1085166 14 21025161 [A/G] NM_001110357,NM_001110356,NM_001110359,NM_001110360,NM_001001673,NM_001110358,NM_001110361 RNASE9,RNASE9,RNASE9,RNASE9,RNASE9,RNASE9,RNASE9 EXON Missense_L23P,Missense_L23P,Missense_W65R,Missense_W65R,Missense_L23P,Missense_W40R,Missense_W40R exm1085168 14 21025203 [T/G] NM_001110357,NM_001110356,NM_001110359,NM_001110360,NM_001001673,NM_001110358,NM_001110361 RNASE9,RNASE9,RNASE9,RNASE9,RNASE9,RNASE9,RNASE9 EXON Missense_H9P,Missense_H9P,Missense_T51P,Missense_T51P,Missense_H9P,Missense_T26P,Missense_T26P exm1085173 14 21026773 [T/C] NM_001110357,NM_001110356,NM_001110359,NM_001110360,NM_001001673,NM_001110358,NM_001110361 RNASE9,RNASE9,RNASE9,RNASE9,RNASE9,RNASE9,RNASE9 EXON Silent,Silent,Missense_V13I,Missense_V13I,Silent,Silent,Silent exm1085186 14 21052185 [T/C] NM_145250 RNASE11 EXON Missense_S150N exm1085189 14 21052248 [T/C] NM_145250 RNASE11 EXON Missense_R129H exm1085190 14 21052249 [A/G] NM_145250 RNASE11 EXON Missense_R129C exm1085193 14 21052270 [A/G] NM_145250 RNASE11 EXON Missense_R122C exm1085197 14 21052305 [A/G] NM_145250 RNASE11 EXON Missense_A110V exm1085199 14 21052362 [A/G] NM_145250 RNASE11 EXON Missense_S91L exm1085203 14 21052414 [A/T] NM_145250 RNASE11 EXON Missense_T74S exm1085206 14 21052474 [T/C] NM_145250 RNASE11 EXON Missense_N54D exm1085211 14 21052532 [C/G] NM_145250 RNASE11 EXON Missense_E34D exm1085213 14 21052572 [T/C] NM_145250 RNASE11 EXON Missense_S21N exm1085215 14 21052621 [A/G] NM_145250 RNASE11 EXON Missense_P5S exm1085224 14 21058587 [T/C] NM_001024822 RNASE12 EXON Missense_S99N exm1085231 14 21058683 [A/C] NM_001024822 RNASE12 EXON Missense_V67G exm1085234 14 21058765 [A/G] NM_001024822 RNASE12 EXON Missense_P40S exm1085241 14 21058880 [A/C] NM_001024822 RNASE12 EXON Missense_M1I exm1085245 14 21108896 [T/G] NM_001001968 OR6S1 EXON Missense_L319I exm1085252 14 21108965 [A/G] NM_001001968 OR6S1 EXON Missense_R296C exm1085253 14 21109009 [A/G] NM_001001968 OR6S1 EXON Missense_T281M exm1085254 14 21109013 [T/C] NM_001001968 OR6S1 EXON Missense_I280V exm2222179 14 21109084 [C/G] NM_001001968 OR6S1 EXON Missense_G256A exm1085261 14 21109141 [T/C] NM_001001968 OR6S1 EXON Missense_R237H exm1085264 14 21109187 [T/C] NM_001001968 OR6S1 EXON Missense_G222S exm1085270 14 21109255 [T/C] NM_001001968 OR6S1 EXON Missense_E199G exm1085272 14 21109285 [T/C] NM_001001968 OR6S1 EXON Missense_R189H exm1085281 14 21109385 [T/C] NM_001001968 OR6S1 EXON Missense_V156I exm1085282 14 21109394 [A/C] NM_001001968 OR6S1 EXON Missense_G153W exm1085285 14 21109454 [A/G] NM_001001968 OR6S1 EXON Missense_R133C exm1085288 14 21109478 [A/G] NM_001001968 OR6S1 EXON Missense_Y125H exm1085289 14 21109505 [T/G] NM_001001968 OR6S1 EXON Missense_L116M exm1085290 14 21109507 [A/G] NM_001001968 OR6S1 EXON Missense_L115S exm1085300 14 21109726 [A/G] NM_001001968 OR6S1 EXON Missense_T42I exm1085301 14 21109745 [G/C] NM_001001968 OR6S1 EXON Missense_V36L exm1085303 14 21109769 [A/C] NM_001001968 OR6S1 EXON Nonsense_E28X exm1085305 14 21109805 [C/G] NM_001001968 OR6S1 EXON Missense_L16V exm1085312 14 21161845 [T/A] NM_001145,NM_002937,NM_001097577,NM_194431 ANG,RNASE4,ANG,RNASE4 EXON Missense_K41I,Silent,Missense_K41I,Silent exm1085320 14 21161955 [A/G] NM_001145,NM_002937,NM_001097577,NM_194431 ANG,RNASE4,ANG,RNASE4 EXON Missense_K78E,Silent,Missense_K78E,Silent exm1085321 14 21161973 [A/G] NM_001145,NM_002937,NM_001097577,NM_194431 ANG,RNASE4,ANG,RNASE4 EXON Missense_K84E,Silent,Missense_K84E,Silent exm1085336 14 21167576 [A/T] NM_002937,NM_194431 RNASE4,RNASE4 EXON Missense_T16S,Missense_T16S exm1085337 14 21167633 [T/C] NM_002937,NM_194431 RNASE4,RNASE4 EXON Nonsense_R35X,Nonsense_R35X exm1085338 14 21167642 [T/C] NM_002937,NM_194431 RNASE4,RNASE4 EXON Missense_R38W,Missense_R38W exm1085339 14 21167660 [G/C] NM_002937,NM_194431 RNASE4,RNASE4 EXON Missense_E44Q,Missense_E44Q exm1085347 14 21167758 [A/C] NM_002937,NM_194431 RNASE4,RNASE4 EXON Missense_E76D,Missense_E76D exm1085351 14 21167837 [A/G] NM_002937,NM_194431 RNASE4,RNASE4 EXON Missense_V103I,Missense_V103I exm1807529 14 21167898 [A/G] NM_002937,NM_194431 RNASE4,RNASE4 EXON Missense_R123Q,Missense_R123Q exm1085354 14 21167907 [T/C] NM_002937,NM_194431 RNASE4,RNASE4 EXON Missense_A126V,Missense_A126V exm1085355 14 21167927 [T/A] NM_002937,NM_194431 RNASE4,RNASE4 EXON Missense_I133F,Missense_I133F exm2251699 14 21167971 [T/C] NM_002937,NM_194431 RNASE4,RNASE4 EXON Synonymous_G147G,Synonymous_G147G exm2267631 14 21204213 [A/G] exm1085362 14 21215746 [A/T] NM_006683 EDDM3A EXON Missense_S3T exm1807533 14 21215805 [T/C] NM_006683 EDDM3A EXON Synonymous_C22C exm1085367 14 21215808 [A/C] NM_006683 EDDM3A EXON Synonymous_V23V exm2251700 14 21215808 [A/C] NM_006683 EDDM3A EXON Synonymous_V23V exm1085369 14 21215833 [G/C] NM_006683 EDDM3A EXON Missense_E32Q exm1085370 14 21215866 [T/C] NM_006683 EDDM3A EXON Nonsense_R43X exm1085371 14 21215923 [T/G] NM_006683 EDDM3A EXON Missense_G62C exm1085377 14 21215974 [T/G] NM_006683 EDDM3A EXON Missense_A79S exm1085387 14 21216124 [A/G] NM_006683 EDDM3A EXON Missense_V129I exm1085388 14 21216128 [A/G] NM_006683 EDDM3A EXON Missense_D130G exm1085390 14 21216136 [A/G] NM_006683 EDDM3A EXON Missense_V133I exm1085395 14 21238322 [G/C] NM_022360 EDDM3B EXON Missense_L5V exm1085402 14 21238437 [A/G] NM_022360 EDDM3B EXON Missense_R43Q exm1085408 14 21238578 [A/G] NM_022360 EDDM3B EXON Missense_R90Q exm1085418 14 21238732 [A/G] NM_022360 EDDM3B EXON Missense_M141I exm1085423 14 21249869 [C/G] NM_005615 RNASE6 EXON Missense_C4S exm1085425 14 21249986 [T/C] NM_005615 RNASE6 EXON Missense_P43L exm1085433 14 21250124 [A/G] NM_005615 RNASE6 EXON Missense_R89Q exm1085435 14 21250144 [T/G] NM_005615 RNASE6 EXON Missense_S96A exm1085439 14 21250196 [T/A] NM_005615 RNASE6 EXON Missense_Q113L exm1085452 14 21269769 [A/C] NM_198235,NM_002933,NM_198232,NM_198234 RNASE1,RNASE1,RNASE1,RNASE1 EXON Missense_E153D,Missense_E153D,Missense_E153D,Missense_E153D exm1085455 14 21269824 [A/G] NM_198235,NM_002933,NM_198232,NM_198234 RNASE1,RNASE1,RNASE1,RNASE1 EXON Missense_I135T,Missense_I135T,Missense_I135T,Missense_I135T exm1085457 14 21269852 [A/G] NM_198235,NM_002933,NM_198232,NM_198234 RNASE1,RNASE1,RNASE1,RNASE1 EXON Missense_R126W,Missense_R126W,Missense_R126W,Missense_R126W exm1085458 14 21269870 [A/G] NM_198235,NM_002933,NM_198232,NM_198234 RNASE1,RNASE1,RNASE1,RNASE1 EXON Missense_Y120H,Missense_Y120H,Missense_Y120H,Missense_Y120H exm1085461 14 21269977 [A/T] NM_198235,NM_002933,NM_198232,NM_198234 RNASE1,RNASE1,RNASE1,RNASE1 EXON Missense_N84I,Missense_N84I,Missense_N84I,Missense_N84I exm1085462 14 21269990 [C/G] NM_198235,NM_002933,NM_198232,NM_198234 RNASE1,RNASE1,RNASE1,RNASE1 EXON Missense_V80L,Missense_V80L,Missense_V80L,Missense_V80L exm1085470 14 21270166 [T/C] NM_198235,NM_002933,NM_198232,NM_198234 RNASE1,RNASE1,RNASE1,RNASE1 EXON Missense_G21D,Missense_G21D,Missense_G21D,Missense_G21D exm1085478 14 21359987 [G/C] NM_002935 RNASE3 EXON Missense_P48A exm1085484 14 21360059 [T/C] NM_002935 RNASE3 EXON Missense_R72C exm1085487 14 21360090 [A/G] NM_002935 RNASE3 EXON Missense_C82Y exm1085488 14 21360092 [A/G] NM_002935 RNASE3 EXON Missense_G83S exm1085493 14 21360156 [A/G] NM_002935 RNASE3 EXON Missense_R104Q exm1807571 14 21360161 [A/C] NM_002935 RNASE3 EXON Missense_P106T exm1085495 14 21360216 [C/G] NM_002935 RNASE3 EXON Missense_T124R exm1085510 14 21424041 [T/G] NM_002934 RNASE2 EXON Missense_W37C exm1085516 14 21424117 [T/C] NM_002934 RNASE2 EXON Nonsense_R63X exm1085518 14 21424213 [A/C] NM_002934 RNASE2 EXON Missense_R95S exm1085520 14 21424241 [A/C] NM_002934 RNASE2 EXON Missense_Q104P exm1085535 14 21458181 [A/G] NM_001029991,NM_022734 METTL17,METTL17 EXON Missense_C7Y,Missense_C7Y exm1085559 14 21458649 [C/G] NM_001029991,NM_022734 METTL17,METTL17 EXON Missense_Q86E,Missense_Q86E exm1085560 14 21458668 [G/C] NM_001029991,NM_022734 METTL17,METTL17 EXON Missense_S92T,Missense_S92T exm1085562 14 21458730 [T/C] NM_001029991,NM_022734 METTL17,METTL17 EXON Missense_L113F,Missense_L113F exm1085566 14 21460700 [G/C] NM_001029991,NM_022734 METTL17,METTL17 EXON Missense_S149R,Missense_S149R exm1085568 14 21460770 [T/G] NM_001029991,NM_022734 METTL17,METTL17 EXON Missense_A173S,Missense_A173S exm1085570 14 21461281 [A/G] NM_001029991,NM_022734 METTL17,METTL17 EXON Missense_R178Q,Missense_R178Q exm1085582 14 21463014 [A/G] NM_001029991,NM_022734 METTL17,METTL17 EXON Missense_R277H,Missense_R277H exm1085583 14 21463040 [T/C] NM_001029991,NM_022734 METTL17,METTL17 EXON Missense_R286C,Missense_R286C exm1085584 14 21463041 [A/G] NM_001029991,NM_022734 METTL17,METTL17 EXON Missense_R286H,Missense_R286H exm1085586 14 21463050 [G/C] NM_001029991,NM_022734 METTL17,METTL17 EXON Missense_G289A,Missense_G289A exm1085592 14 21464070 [A/G] NM_001029991,NM_022734 METTL17,METTL17 EXON Missense_K319R,Missense_K319R exm1085614 14 21464858 [A/G] NM_001029991,NM_022734 METTL17,METTL17 EXON Missense_R418H,Missense_R418H exm1085615 14 21464872 [T/G] NM_001029991,NM_022734 METTL17,METTL17 EXON Missense_Y423D,Silent exm1085618 14 21464935 [T/C] NM_001029991,NM_022734 METTL17,METTL17 EXON Missense_F444L,Silent exm1085621 14 21465024 [T/C] NM_001029991,NM_022734 METTL17,METTL17 EXON Synonymous_Y473Y,Missense_T449M exm1085632 14 21467909 [T/C] NM_014579,NM_001256588 SLC39A2,SLC39A2 EXON Missense_R42W,Missense_R42W exm1085637 14 21467928 [T/C] NM_014579,NM_001256588 SLC39A2,SLC39A2 EXON Missense_L48P,Missense_L48P exm1085638 14 21468023 [A/G] NM_014579,NM_001256588 SLC39A2,SLC39A2 EXON Missense_M80V,Missense_M80V exm1085648 14 21469212 [T/C] NM_014579,NM_001256588 SLC39A2,SLC39A2 EXON Missense_T135I,Silent exm1085651 14 21469223 [A/G] NM_014579,NM_001256588 SLC39A2,SLC39A2 EXON Missense_E139K,Silent exm1085654 14 21469241 [T/C] NM_014579,NM_001256588 SLC39A2,SLC39A2 EXON Missense_H145Y,Silent exm1085657 14 21469257 [A/G] NM_014579,NM_001256588 SLC39A2,SLC39A2 EXON Missense_H150R,Silent exm1085658 14 21469268 [T/C] NM_014579,NM_001256588 SLC39A2,SLC39A2 EXON Missense_H154Y,Silent exm1085664 14 21469446 [A/G] NM_014579,NM_001256588 SLC39A2,SLC39A2 EXON Missense_R213Q,Silent exm1085666 14 21469470 [A/C] NM_014579,NM_001256588 SLC39A2,SLC39A2 EXON Nonsense_S221X,Silent exm1807632 14 21469472 [T/C] NM_014579,NM_001256588 SLC39A2,SLC39A2 EXON Nonsense_R222X,Silent exm1085673 14 21469529 [A/G] NM_014579,NM_001256588 SLC39A2,SLC39A2 EXON Missense_V241I,Silent exm1085677 14 21469647 [A/G] NM_014579,NM_001256588 SLC39A2,SLC39A2 EXON Missense_R280Q,Silent exm1085684 14 21485784 [A/G] NM_201538,NM_201539,NM_201540,NM_201541,NM_201537,NM_201536,NM_201535,NM_016250 NDRG2,NDRG2,NDRG2,NDRG2,NDRG2,NDRG2,NDRG2,NDRG2 EXON Missense_P349S,Missense_P363S,Missense_P363S,Missense_P349S,Missense_P363S,Missense_P349S,Missense_P363S,Missense_P349S exm2222188 14 21485801 [A/G] NM_201538,NM_201539,NM_201540,NM_201541,NM_201537,NM_201536,NM_201535,NM_016250 NDRG2,NDRG2,NDRG2,NDRG2,NDRG2,NDRG2,NDRG2,NDRG2 EXON Missense_T343I,Missense_T357I,Missense_T357I,Missense_T343I,Missense_T357I,Missense_T343I,Missense_T357I,Missense_T343I exm1085717 14 21487276 [T/C] NM_201538,NM_201539,NM_201540,NM_201541,NM_201537,NM_201536,NM_201535,NM_016250 NDRG2,NDRG2,NDRG2,NDRG2,NDRG2,NDRG2,NDRG2,NDRG2 EXON Missense_R240G,Missense_R254G,Missense_R254G,Missense_R240G,Missense_R254G,Missense_R240G,Missense_R254G,Missense_R240G exm1085728 14 21488731 [A/G] NM_201538,NM_201539,NM_201540,NM_201541,NM_201537,NM_201536,NM_201535,NM_016250 NDRG2,NDRG2,NDRG2,NDRG2,NDRG2,NDRG2,NDRG2,NDRG2 EXON Missense_P146L,Missense_P160L,Missense_P160L,Missense_P146L,Missense_P160L,Missense_P146L,Missense_P160L,Missense_P146L exm1085736 14 21489992 [T/C] NM_201538,NM_201539,NM_201540,NM_201541,NM_201537,NM_201536,NM_201535,NM_016250 NDRG2,NDRG2,NDRG2,NDRG2,NDRG2,NDRG2,NDRG2,NDRG2 EXON Missense_V117I,Missense_V131I,Missense_V131I,Missense_V117I,Missense_V131I,Missense_V117I,Missense_V131I,Missense_V117I exm1085739 14 21490022 [T/G] NM_201538,NM_201539,NM_201540,NM_201541,NM_201537,NM_201536,NM_201535,NM_016250 NDRG2,NDRG2,NDRG2,NDRG2,NDRG2,NDRG2,NDRG2,NDRG2 EXON Missense_L107M,Missense_L121M,Missense_L121M,Missense_L107M,Missense_L121M,Missense_L107M,Missense_L121M,Missense_L107M exm1085741 14 21490275 [T/C] NM_201538,NM_201539,NM_201540,NM_201541,NM_201537,NM_201536,NM_201535,NM_016250 NDRG2,NDRG2,NDRG2,NDRG2,NDRG2,NDRG2,NDRG2,NDRG2 EXON Missense_R83Q,Missense_R97Q,Missense_R97Q,Missense_R83Q,Missense_R97Q,Missense_R83Q,Missense_R97Q,Missense_R83Q exm1085743 14 21490339 [T/C] NM_201538,NM_201539,NM_201540,NM_201541,NM_201537,NM_201536,NM_201535,NM_016250 NDRG2,NDRG2,NDRG2,NDRG2,NDRG2,NDRG2,NDRG2,NDRG2 EXON Missense_K62E,Missense_K76E,Missense_K76E,Missense_K62E,Missense_K76E,Missense_K62E,Missense_K76E,Missense_K62E exm1807667 14 21490604 [A/G] NM_201538,NM_201539,NM_201540,NM_201541,NM_201537,NM_201536,NM_201535,NM_016250 NDRG2,NDRG2,NDRG2,NDRG2,NDRG2,NDRG2,NDRG2,NDRG2 EXON Missense_T43I,Missense_T57I,Missense_T57I,Missense_T43I,Missense_T57I,Missense_T43I,Missense_T57I,Missense_T43I exm2251702 14 21490606 [T/G] NM_201538,NM_201539,NM_201540,NM_201541,NM_201537,NM_201536,NM_201535,NM_016250 NDRG2,NDRG2,NDRG2,NDRG2,NDRG2,NDRG2,NDRG2,NDRG2 EXON Synonymous_G42G,Synonymous_G56G,Synonymous_G56G,Synonymous_G42G,Synonymous_G56G,Synonymous_G42G,Synonymous_G56G,Synonymous_G42G exm1085752 14 21490641 [A/T] NM_201538,NM_201539,NM_201540,NM_201541,NM_201537,NM_201536,NM_201535,NM_016250 NDRG2,NDRG2,NDRG2,NDRG2,NDRG2,NDRG2,NDRG2,NDRG2 EXON Missense_T31S,Missense_T45S,Missense_T45S,Missense_T31S,Missense_T45S,Missense_T31S,Missense_T45S,Missense_T31S exm1085754 14 21491063 [T/C] NM_201538,NM_201539,NM_201540,NM_201541,NM_201537,NM_201536,NM_201535,NM_016250 NDRG2,NDRG2,NDRG2,NDRG2,NDRG2,NDRG2,NDRG2,NDRG2 EXON Silent,Missense_E26G,Missense_E26G,Silent,Missense_E26G,Silent,Missense_E26G,Silent exm1085762 14 21498771 [T/C] NM_173846 TPPP2 EXON Missense_R11W exm1085764 14 21498871 [C/G] NM_173846 TPPP2 EXON Missense_T44R exm1085777 14 21499317 [A/G] NM_173846 TPPP2 EXON Missense_G107D exm1085778 14 21499319 [A/G] NM_173846 TPPP2 EXON Missense_A108T exm1085783 14 21500121 [T/G] NM_173846 TPPP2 EXON Missense_R133L exm1085784 14 21500129 [C/G] NM_173846 TPPP2 EXON Missense_E136Q exm1085788 14 21500199 [A/G] NM_173846 TPPP2 EXON Missense_Y159C exm1085789 14 21500218 [C/G] NM_173846 TPPP2 EXON Nonsense_Y165X exm1085790 14 21500228 [A/C] NM_173846 TPPP2 EXON Missense_T169P exm1085794 14 21501999 [A/G] NM_001012264 RNASE13 EXON Missense_A150V exm1085797 14 21502023 [T/C] NM_001012264 RNASE13 EXON Missense_Y142C exm1085798 14 21502029 [T/C] NM_001012264 RNASE13 EXON Missense_R140H exm1085803 14 21502077 [T/C] NM_001012264 RNASE13 EXON Missense_Y124C exm1085804 14 21502110 [A/G] NM_001012264 RNASE13 EXON Missense_S113F exm1085807 14 21502169 [A/C] NM_001012264 RNASE13 EXON Missense_C93W exm1085812 14 21502429 [A/G] NM_001012264 RNASE13 EXON Missense_R7W exm1085813 14 21502431 [A/G] NM_001012264 RNASE13 EXON Missense_T6I exm1085816 14 21511212 [A/G] NM_032572 RNASE7 EXON Missense_V21M exm1085819 14 21511281 [A/G] NM_032572 RNASE7 EXON Missense_M44V exm1085822 14 21511342 [A/G] NM_032572 RNASE7 EXON Missense_R64Q exm1085824 14 21511371 [A/G] NM_032572 RNASE7 EXON Missense_E74K exm1085827 14 21511426 [A/G] NM_032572 RNASE7 EXON Missense_N92S exm1085828 14 21511458 [G/C] NM_032572 RNASE7 EXON Missense_A103P exm1085832 14 21511497 [T/C] NM_032572 RNASE7 EXON Missense_H116Y exm1085833 14 21511501 [T/C] NM_032572 RNASE7 EXON Missense_P117L exm1085836 14 21511541 [C/G] NM_032572 RNASE7 EXON Nonsense_Y130X exm1085837 14 21511570 [A/C] NM_032572 RNASE7 EXON Missense_K140T exm1085838 14 21511611 [A/G] NM_032572 RNASE7 EXON Missense_R154G exm1085841 14 21526079 [T/C] NM_138331 RNASE8 EXON Missense_P10S exm1085850 14 21526352 [A/G] NM_138331 RNASE8 EXON Missense_G101R exm1085858 14 21526415 [A/G] NM_138331 RNASE8 EXON Missense_E122K exm2222191 14 21526424 [G/C] NM_138331 RNASE8 EXON Missense_L125V exm1085873 14 21541382 [A/G] NM_018071 ARHGEF40 EXON Missense_K61R exm1085922 14 21542962 [A/G] NM_018071 ARHGEF40 EXON Missense_G358E exm1085924 14 21543007 [A/G] NM_018071 ARHGEF40 EXON Missense_R373Q exm1085927 14 21543093 [T/C] NM_018071 ARHGEF40 EXON Missense_P402S exm1085939 14 21543511 [T/C] NM_018071 ARHGEF40 EXON Missense_P491S exm1085946 14 21543657 [A/G] NM_018071 ARHGEF40 EXON Synonymous_T539T exm1085954 14 21544523 [G/C] NM_018071 ARHGEF40 EXON Missense_D582H exm1085970 14 21546354 [T/C] NM_018071 ARHGEF40 EXON Missense_R685C exm1085984 14 21546629 [A/G] NM_018071 ARHGEF40 EXON Missense_R743H exm1085985 14 21546635 [T/C] NM_018071 ARHGEF40 EXON Missense_T745I exm1085987 14 21547088 [T/G] NM_018071 ARHGEF40 EXON Missense_E764D exm1085998 14 21548913 [A/G] NM_018071 ARHGEF40 EXON Missense_R823Q exm1086000 14 21548930 [A/G] NM_018071 ARHGEF40 EXON Missense_A829T exm1086002 14 21549035 [T/C] NM_018071 ARHGEF40 EXON Missense_R834C exm1086003 14 21549036 [A/G] NM_018071 ARHGEF40 EXON Missense_R834H exm1086005 14 21549051 [A/G] NM_018071 ARHGEF40 EXON Missense_R839Q exm1086015 14 21549674 [T/G] NM_018071 ARHGEF40 EXON Nonsense_E883X exm1086026 14 21549854 [A/G] NM_018071 ARHGEF40 EXON Missense_A943T exm1086028 14 21549893 [G/C] NM_018071 ARHGEF40 EXON Missense_V956L exm1086029 14 21549929 [T/C] NM_018071 ARHGEF40 EXON Missense_R968W exm1086041 14 21550212 [A/G] NM_018071 ARHGEF40 EXON Missense_R1062Q exm1086043 14 21550254 [A/G] NM_018071 ARHGEF40 EXON Missense_R1076Q exm1086044 14 21550263 [A/G] NM_018071 ARHGEF40 EXON Missense_R1079H exm1086047 14 21550420 [T/G] NM_018071 ARHGEF40 EXON Missense_V1090G exm1086050 14 21550552 [A/G] NM_018071 ARHGEF40 EXON Missense_R1134H exm2277063 14 21551020 [A/G] NM_018071 ARHGEF40 EXON Missense_V1173M exm1086061 14 21551066 [A/C] NM_018071 ARHGEF40 EXON Missense_P1188H exm1086069 14 21552151 [A/G] NM_018071 ARHGEF40 EXON Missense_R1244Q exm1086087 14 21553057 [T/C] NM_018071 ARHGEF40 EXON Missense_M1312T exm1086103 14 21555169 [T/C] NM_018071 ARHGEF40 EXON Missense_V1383A exm1086116 14 21555574 [T/C] NM_018071 ARHGEF40 EXON Missense_R1447C exm1086140 14 21558768 [A/G] NM_001101672,NM_016423,NM_001102454 ZNF219,ZNF219,ZNF219 EXON Missense_P699L,Missense_P699L,Missense_P699L exm1086146 14 21559119 [A/G] NM_001101672,NM_016423,NM_001102454 ZNF219,ZNF219,ZNF219 EXON Missense_P582L,Missense_P582L,Missense_P582L exm1086148 14 21559195 [T/C] NM_001101672,NM_016423,NM_001102454 ZNF219,ZNF219,ZNF219 EXON Missense_G557S,Missense_G557S,Missense_G557S exm1807775 14 21560455 [A/G] NM_001101672,NM_016423,NM_001102454 ZNF219,ZNF219,ZNF219 EXON Missense_P334L,Missense_P334L,Missense_P334L exm1086214 14 21569591 [C/G] NM_001102454,NM_001146683 ZNF219,TMEM253 EXON Silent,Missense_G30A exm1086216 14 21570257 [A/G] NM_001102454,NM_001146683 ZNF219,TMEM253 EXON Silent,Missense_R85H exm1086217 14 21570269 [A/G] NM_001102454,NM_001146683 ZNF219,TMEM253 EXON Silent,Missense_R89H exm1086223 14 21571385 [A/G] NM_001102454,NM_001146683 ZNF219,TMEM253 EXON Silent,Missense_E208K exm1086227 14 21623118 [T/C] NM_001004731 OR5AU1 EXON Nonsense_W356X exm1086230 14 21623170 [A/G] NM_001004731 OR5AU1 EXON Missense_L339F exm1086231 14 21623182 [T/C] NM_001004731 OR5AU1 EXON Missense_V335M exm1807779 14 21623220 [T/C] NM_001004731 OR5AU1 EXON Missense_D322G exm1086235 14 21623290 [T/C] NM_001004731 OR5AU1 EXON Missense_I299V exm1086237 14 21623316 [G/C] NM_001004731 OR5AU1 EXON Missense_S290C exm1086238 14 21623325 [T/C] NM_001004731 OR5AU1 EXON Missense_K287R exm1086244 14 21623363 [G/C] NM_001004731 OR5AU1 EXON Missense_N274K exm1086259 14 21623484 [A/G] NM_001004731 OR5AU1 EXON Missense_P234L exm1086266 14 21623593 [T/C] NM_001004731 OR5AU1 EXON Missense_G198S exm1086268 14 21623604 [A/G] NM_001004731 OR5AU1 EXON Missense_S194L exm1086273 14 21623659 [T/C] NM_001004731 OR5AU1 EXON Missense_A176T exm1086275 14 21623676 [A/G] NM_001004731 OR5AU1 EXON Missense_A170V exm1086278 14 21623703 [T/C] NM_001004731 OR5AU1 EXON Missense_S161N exm1086280 14 21623836 [A/G] NM_001004731 OR5AU1 EXON Missense_L117F exm1086287 14 21623947 [T/C] NM_001004731 OR5AU1 EXON Missense_V80M exm1086289 14 21623953 [A/G] NM_001004731 OR5AU1 EXON Missense_L78F exm1086290 14 21623970 [T/G] NM_001004731 OR5AU1 EXON Missense_P72H exm1086293 14 21624038 [T/C] NM_001004731 OR5AU1 EXON Nonsense_W49X exm1086297 14 21624112 [T/C] NM_001004731 OR5AU1 EXON Missense_I25V exm-rs10483251 14 21671277 [T/G] NR_038970,NR_038971 LINC00641,LINC00641 EXON Silent,Silent exm1086307 14 21679564 [C/G] NM_001077442,NM_031314,NM_004500,NM_001077443 HNRNPC,HNRNPC,HNRNPC,HNRNPC Silent,Silent,Silent,Silent exm1086309 14 21679599 [T/C] NM_001077442,NM_031314,NM_004500,NM_001077443 HNRNPC,HNRNPC,HNRNPC,HNRNPC EXON Missense_D268G,Missense_D268G,Missense_D255G,Missense_D255G exm1086310 14 21679600 [A/C] NM_001077442,NM_031314,NM_004500,NM_001077443 HNRNPC,HNRNPC,HNRNPC,HNRNPC EXON Missense_D268Y,Missense_D268Y,Missense_D255Y,Missense_D255Y exm1086317 14 21679970 [T/C] NM_001077442,NM_031314,NM_004500,NM_001077443 HNRNPC,HNRNPC,HNRNPC,HNRNPC EXON Synonymous_A225A,Synonymous_A225A,Synonymous_A212A,Synonymous_A212A exm1086318 14 21679980 [T/C] NM_001077442,NM_031314,NM_004500,NM_001077443 HNRNPC,HNRNPC,HNRNPC,HNRNPC EXON Missense_S222N,Missense_S222N,Missense_S209N,Missense_S209N exm-rs17197037 14 21725654 [A/G] NM_001077442,NM_031314,NM_004500,NM_001077443 HNRNPC,HNRNPC,HNRNPC,HNRNPC Silent,Silent,Silent,Silent exm1086334 14 21756209 [T/C] NM_020366 RPGRIP1 EXON Missense_P25L exm1086335 14 21756212 [T/C] NM_020366 RPGRIP1 EXON Missense_A26V exm1086336 14 21762845 [A/T] NM_020366 RPGRIP1 EXON Missense_M32K exm1086342 14 21769162 [T/C] NM_020366 RPGRIP1 EXON Missense_R86W exm1086354 14 21770721 [T/G] NM_020366 RPGRIP1 EXON Missense_V189L exm1086356 14 21770730 [A/G] NM_020366 RPGRIP1 EXON Missense_K192E exm1086370 14 21778743 [A/G] NM_020366 RPGRIP1 EXON Missense_A303T exm1086377 14 21780020 [T/C] NM_020366 RPGRIP1 EXON Missense_L323P exm1086401 14 21790040 [T/G] NM_020366 RPGRIP1 EXON Missense_A547S exm1086407 14 21790154 [T/C] NM_020366 RPGRIP1 EXON Missense_P585S exm1086409 14 21792781 [T/G] NM_020366 RPGRIP1 EXON Missense_Q589H exm1086410 14 21792807 [A/G] NM_020366 RPGRIP1 EXON Missense_R598Q exm2222206 14 21793077 [T/C] NM_020366 RPGRIP1 EXON Missense_S688L exm1086430 14 21794039 [T/C] NM_020366 RPGRIP1 EXON Missense_T806I exm1086432 14 21794057 [A/G] NM_020366 RPGRIP1 EXON Missense_R812Q exm2251703 14 21794172 [A/G] NM_020366 RPGRIP1 EXON Synonymous_Q850Q exm1086440 14 21794221 [T/C] NM_020366 RPGRIP1 EXON Missense_R867W exm1086443 14 21794266 [T/C] NM_020366 RPGRIP1 EXON Missense_P882S exm1086445 14 21794287 [A/G] NM_020366 RPGRIP1 EXON Missense_A889T exm1086449 14 21795940 [A/G] NM_020366 RPGRIP1 EXON Missense_E957K exm1086450 14 21795949 [C/G] NM_020366 RPGRIP1 EXON Missense_A960P exm1086455 14 21796650 [A/G] NM_020366 RPGRIP1 EXON Missense_H988R exm1086460 14 21796784 [G/C] NM_020366 RPGRIP1 EXON Missense_E1033Q exm1086466 14 21811196 [A/G] NM_020366 RPGRIP1 EXON Missense_D1114G exm1086467 14 21811213 [A/G] NM_020366 RPGRIP1 EXON Missense_I1120V exm1086472 14 21811360 [G/C] NM_020366 RPGRIP1 EXON Missense_E1169Q exm1086477 14 21816432 [A/G] NM_020366 RPGRIP1 EXON Missense_G1240E exm1086534 14 21831652 [C/G] NM_007192 SUPT16H EXON Missense_A415G exm1086547 14 21833262 [T/C] NM_007192 SUPT16H EXON Missense_I363V exm1086574 14 21840143 [T/C] NM_007192 SUPT16H EXON Missense_I74V exm1086578 14 21841565 [T/C] NM_007192 SUPT16H EXON Missense_V31I exm1086612 14 21859651 [T/C] NM_020920,NM_001170629 CHD8,CHD8 EXON Missense_E2067K,Missense_E2346K exm1086623 14 21860787 [T/C] NM_020920,NM_001170629 CHD8,CHD8 EXON Missense_R1938Q,Missense_R2217Q exm2251704 14 21860900 [A/G] NM_020920,NM_001170629 CHD8,CHD8 EXON Synonymous_S1900S,Synonymous_S2179S exm1086633 14 21861393 [A/G] NM_020920,NM_001170629 CHD8,CHD8 EXON Missense_L1835F,Missense_L2114F exm1086643 14 21861869 [T/C] NM_020920,NM_001170629 CHD8,CHD8 EXON Missense_E1750K,Missense_E2029K exm1086660 14 21862271 [A/G] NM_020920,NM_001170629 CHD8,CHD8 EXON Missense_R1616C,Missense_R1895C exm1086661 14 21862289 [A/G] NM_020920,NM_001170629 CHD8,CHD8 EXON Missense_R1610C,Missense_R1889C exm1086677 14 21863266 [T/C] NM_020920,NM_001170629 CHD8,CHD8 EXON Missense_Q1453R,Missense_Q1732R exm1086712 14 21869100 [A/T] NM_020920,NM_001170629 CHD8,CHD8 EXON Missense_H1156L,Missense_H1435L exm1086714 14 21869170 [T/C] NM_020920,NM_001170629 CHD8,CHD8 EXON Missense_K1133E,Missense_K1412E exm1086745 14 21878012 [T/C] NM_020920,NM_001170629 CHD8,CHD8 EXON Missense_V509M,Missense_V788M exm1086754 14 21883940 [A/G] NM_020920,NM_001170629 CHD8,CHD8 EXON Missense_P336S,Missense_P615S exm1086755 14 21883961 [T/C] NM_020920,NM_001170629 CHD8,CHD8 EXON Missense_I329V,Missense_I608V exm1086782 14 21897467 [A/G] NM_020920,NM_001170629 CHD8,CHD8 EXON Missense_L12F,Missense_L291F exm1086792 14 21899541 [T/C] NM_020920,NM_001170629 CHD8,CHD8 EXON Silent,Missense_E88K exm1086794 14 21899658 [T/C] NM_020920,NM_001170629 CHD8,CHD8 EXON Silent,Missense_M49V exm1086803 14 21929371 [T/G] NR_028074,NM_001163380,NM_032846 RAB2B,RAB2B,RAB2B EXON Silent,Missense_N166T,Missense_N212T exm1086823 14 21943027 [A/G] NR_028074,NM_001163380,NM_032846 RAB2B,RAB2B,RAB2B EXON Silent,Missense_T16M,Missense_T62M exm1808046 14 21960731 [T/C] NM_014828 TOX4 EXON Missense_M319T exm1086890 14 21961285 [A/C] NM_014828 TOX4 EXON Missense_Q504K exm1086892 14 21961316 [A/G] NM_014828 TOX4 EXON Missense_S514N exm1086895 14 21961328 [C/G] NM_014828 TOX4 EXON Missense_R518P exm1086896 14 21961343 [T/G] NM_014828 TOX4 EXON Missense_S523I exm1086897 14 21961355 [A/G] NM_014828 TOX4 EXON Missense_H527R exm1086901 14 21963401 [T/C] NM_014828 TOX4 EXON Missense_S552F exm1086927 14 21967946 [T/C] NM_019852 METTL3 EXON Synonymous_R435R exm1086940 14 21969161 [A/G] NM_019852 METTL3 EXON Missense_M337T exm1086952 14 21971392 [T/G] NM_019852 METTL3 EXON Missense_H216P exm1086958 14 21971506 [T/C] NM_019852 METTL3 EXON Missense_R178Q exm1086959 14 21971569 [A/G] NM_019852 METTL3 EXON Missense_M157T exm1086967 14 21971721 [T/C] NM_019852 METTL3 Silent exm1086979 14 21972019 [A/G] NM_019852 METTL3 EXON Missense_R36W exm1086982 14 21979277 [A/G] NM_019852 METTL3 EXON Missense_S30L exm1086994 14 21990897 [A/G] NM_005407 SALL2 EXON Missense_S989P exm1087010 14 21991343 [C/G] NM_005407 SALL2 EXON Missense_P840R exm1087011 14 21991349 [A/G] NM_005407 SALL2 EXON Missense_P838L exm1087014 14 21991410 [G/C] NM_005407 SALL2 EXON Missense_A818P exm1087032 14 21991626 [G/C] NM_005407 SALL2 EXON Missense_G746R exm2251705 14 21991633 [A/G] NM_005407 SALL2 EXON Synonymous_S743S exm1087035 14 21991691 [A/G] NM_005407 SALL2 EXON Missense_A724V exm1087047 14 21992015 [A/G] NM_005407 SALL2 EXON Missense_T616I exm2274675 14 21992016 [T/C] NM_005407 SALL2 EXON Missense_T616A exm1087053 14 21992057 [T/C] NM_005407 SALL2 EXON Missense_Q602R exm1808094 14 21992154 [T/C] NM_005407 SALL2 EXON Missense_T570A exm1087070 14 21992397 [T/C] NM_005407 SALL2 EXON Missense_S489G exm2251707 14 21992410 [A/G] NM_005407 SALL2 EXON Synonymous_L484L exm1808101 14 21992939 [A/C] NM_005407 SALL2 EXON Missense_G308V exm1087100 14 21993200 [C/G] NM_005407 SALL2 EXON Missense_A221G exm1808106 14 21993215 [A/G] NM_005407 SALL2 EXON Missense_T216M exm1087112 14 21993395 [A/G] NM_005407 SALL2 EXON Missense_S156L exm1087120 14 21993498 [A/G] NM_005407 SALL2 EXON Missense_P122S exm1087124 14 21993564 [C/G] NM_005407 SALL2 EXON Missense_P100A exm1087128 14 21993638 [C/G] NM_005407 SALL2 EXON Missense_S75C exm2267697 14 22002461 [A/G] NM_005407 SALL2 Silent exm1087139 14 22005036 [T/C] NM_005407 SALL2 EXON Missense_R7Q exm2251708 14 22022117 [T/C] exm1808117 14 22038001 [T/C] NM_001005465 OR10G3 EXON Missense_R292Q exm1087142 14 22038032 [G/C] NM_001005465 OR10G3 EXON Missense_P282A exm1087143 14 22038037 [A/G] NM_001005465 OR10G3 EXON Missense_I280T exm1087146 14 22038062 [T/C] NM_001005465 OR10G3 EXON Missense_A272T exm1087150 14 22038091 [T/C] NM_001005465 OR10G3 EXON Missense_R262K exm1087151 14 22038125 [T/C] NM_001005465 OR10G3 EXON Missense_V251M exm1087152 14 22038134 [T/C] NM_001005465 OR10G3 EXON Missense_V248M exm1087156 14 22038172 [T/C] NM_001005465 OR10G3 EXON Missense_R235Q exm1087157 14 22038173 [A/G] NM_001005465 OR10G3 EXON Missense_R235W exm1087162 14 22038287 [C/G] NM_001005465 OR10G3 EXON Missense_E197Q exm1087164 14 22038335 [T/C] NM_001005465 OR10G3 EXON Missense_D181N exm1087166 14 22038380 [A/G] NM_001005465 OR10G3 EXON Missense_R166C exm1087181 14 22038562 [T/C] NM_001005465 OR10G3 EXON Missense_Y105C exm1087185 14 22038644 [T/C] NM_001005465 OR10G3 EXON Missense_I78V exm1087188 14 22038659 [T/C] NM_001005465 OR10G3 EXON Missense_S73G exm1087190 14 22038731 [G/C] NM_001005465 OR10G3 EXON Missense_V49L exm1087243 14 22102362 [T/C] NM_001005466 OR10G2 EXON Missense_A213T exm1087265 14 22102706 [A/G] NM_001005466 OR10G2 EXON Missense_P98L exm1087268 14 22102745 [A/C] NM_001005466 OR10G2 EXON Missense_R85L exm1087271 14 22102754 [A/G] NM_001005466 OR10G2 EXON Missense_T82I exm1087275 14 22102787 [A/G] NM_001005466 OR10G2 EXON Missense_L71P exm1087281 14 22102871 [T/C] NM_001005466 OR10G2 EXON Missense_Q43R exm1087291 14 22102971 [T/C] NM_001005466 OR10G2 EXON Missense_D10N exm1087292 14 22102976 [A/G] NM_001005466 OR10G2 EXON Missense_S8L exm1087293 14 22102984 [A/T] NM_001005466 OR10G2 EXON Missense_K5N exm1087303 14 22133330 [T/C] NM_001001912 OR4E2 EXON Missense_F12L exm1087304 14 22133333 [C/G] NM_001001912 OR4E2 EXON Missense_V13L exm1087312 14 22133463 [A/G] NM_001001912 OR4E2 EXON Missense_H56R exm1087318 14 22133648 [A/G] NM_001001912 OR4E2 EXON Missense_V118M exm1087323 14 22133703 [T/G] NM_001001912 OR4E2 EXON Missense_M136R exm1087327 14 22133775 [T/C] NM_001001912 OR4E2 EXON Missense_T160I exm1087328 14 22133789 [T/C] NM_001001912 OR4E2 EXON Missense_R165C exm1087329 14 22133790 [A/G] NM_001001912 OR4E2 EXON Missense_R165H exm1087331 14 22133849 [A/G] NM_001001912 OR4E2 EXON Missense_I185V exm1087334 14 22133934 [A/C] NM_001001912 OR4E2 EXON Missense_A213D exm1087339 14 22133994 [A/G] NM_001001912 OR4E2 EXON Missense_R233H exm1087340 14 22133997 [A/G] NM_001001912 OR4E2 EXON Missense_Q234R exm1087341 14 22134005 [G/C] NM_001001912 OR4E2 EXON Missense_L237V exm1087343 14 22134018 [T/C] NM_001001912 OR4E2 EXON Missense_S241L exm1087344 14 22134092 [T/C] NM_001001912 OR4E2 EXON Missense_S266P exm1087345 14 22134104 [T/G] NM_001001912 OR4E2 EXON Missense_V270L exm1087348 14 22134170 [A/G] NM_001001912 OR4E2 EXON Missense_E292K exm2272054 14 22736111 [T/C] exm2260295 14 22782377 [T/C] exm2264539 14 22974256 [A/C] exm-rs1154155 14 23002684 [T/G] exm1088540 14 23044089 [C/G] NM_001344 DAD1 EXON Missense_Q86E exm1088543 14 23057999 [T/C] NM_001344 DAD1 EXON Missense_Q22R exm1088563 14 23072372 [A/G] NM_022060 ABHD4 EXON Missense_E64K exm1088580 14 23072654 [A/G] NM_022060 ABHD4 EXON Missense_K158E exm1088587 14 23072927 [A/G] NM_022060 ABHD4 EXON Missense_A195T exm1088596 14 23078679 [T/C] NM_022060 ABHD4 EXON Missense_R268C exm1088599 14 23078730 [A/G] NM_022060 ABHD4 EXON Missense_M285V exm1088604 14 23078791 [A/G] NM_022060 ABHD4 EXON Missense_R305Q exm1088605 14 23078809 [A/G] NM_022060 ABHD4 EXON Missense_R311Q exm1088612 14 23079840 [A/G] NM_022060 ABHD4 EXON Missense_D339N exm1088621 14 23235810 [G/C] NM_005015 OXA1L EXON Missense_R27P exm1088622 14 23235821 [T/C] NM_005015 OXA1L EXON Missense_W31R exm1088625 14 23235839 [G/C] NM_005015 OXA1L EXON Missense_Q37E exm1088627 14 23235897 [T/C] NM_005015 OXA1L EXON Missense_P56L exm1088639 14 23236524 [T/C] NM_005015 OXA1L EXON Missense_A104V exm1088650 14 23236598 [A/G] NM_005015 OXA1L EXON Missense_I129V exm1088655 14 23237212 [A/G] NM_005015 OXA1L EXON Missense_V151I exm1088671 14 23239694 [A/C] NM_005015 OXA1L EXON Missense_I292L exm1088681 14 23240042 [C/G] NM_005015 OXA1L EXON Missense_S348C exm1088684 14 23240238 [T/G] NM_005015 OXA1L EXON Missense_M377I exm1088692 14 23240353 [C/G] NM_005015 OXA1L EXON Missense_P416A exm1088693 14 23240359 [T/C] NM_005015 OXA1L EXON Missense_R418W exm1088696 14 23240498 [T/C] NM_005015 OXA1L EXON Missense_T435M exm1088702 14 23240530 [T/C] NM_005015 OXA1L EXON Missense_R446W exm1088704 14 23240643 [A/G] NM_005015 OXA1L EXON Missense_G455D exm1088713 14 23240744 [T/C] NM_005015 OXA1L EXON Missense_P489S exm1088720 14 23242828 [T/C] NR_040448,NM_001126105,NM_001126106 SLC7A7,SLC7A7,SLC7A7 EXON Silent,Synonymous_K509K,Synonymous_K509K exm1088725 14 23242924 [T/C] NR_040448,NM_001126105,NM_001126106 SLC7A7,SLC7A7,SLC7A7 EXON Silent,Synonymous_G477G,Synonymous_G477G exm1088728 14 23243165 [A/G] NR_040448,NM_001126105,NM_001126106 SLC7A7,SLC7A7,SLC7A7 EXON Silent,Missense_P469L,Missense_P469L exm1088729 14 23243166 [A/G] NR_040448,NM_001126105,NM_001126106 SLC7A7,SLC7A7,SLC7A7 EXON Silent,Missense_P469S,Missense_P469S exm1088730 14 23243171 [T/A] NR_040448,NM_001126105,NM_001126106 SLC7A7,SLC7A7,SLC7A7 EXON Silent,Missense_K467M,Missense_K467M exm1088732 14 23243191 [C/G] NR_040448,NM_001126105,NM_001126106 SLC7A7,SLC7A7,SLC7A7 EXON Silent,Missense_I460M,Missense_I460M exm1088741 14 23243680 [T/G] NR_040448,NM_001126105,NM_001126106 SLC7A7,SLC7A7,SLC7A7 EXON Silent,Missense_E376D,Missense_E376D exm1088745 14 23244684 [T/C] NR_040448,NM_001126105,NM_001126106 SLC7A7,SLC7A7,SLC7A7 EXON Silent,Missense_R355Q,Missense_R355Q exm1088749 14 23244749 [T/C] NR_040448,NM_001126105,NM_001126106 SLC7A7,SLC7A7,SLC7A7 EXON Silent,Synonymous_R333R,Synonymous_R333R exm1088754 14 23245086 [T/A] NR_040448,NM_001126105,NM_001126106 SLC7A7,SLC7A7,SLC7A7 EXON Silent,Missense_L318F,Missense_L318F exm1088756 14 23245124 [G/C] NR_040448,NM_001126105,NM_001126106 SLC7A7,SLC7A7,SLC7A7 EXON Silent,Missense_G306R,Missense_G306R exm1088757 14 23245147 [T/A] NR_040448,NM_001126105,NM_001126106 SLC7A7,SLC7A7,SLC7A7 Silent,Silent,Silent exm1088759 14 23245436 [T/G] NR_040448,NM_001126105,NM_001126106 SLC7A7,SLC7A7,SLC7A7 EXON Silent,Synonymous_R288R,Synonymous_R288R exm1088761 14 23248052 [T/G] NR_040448,NM_001126105,NM_001126106 SLC7A7,SLC7A7,SLC7A7 EXON Silent,Synonymous_S240S,Synonymous_S240S exm1088769 14 23249217 [G/C] NR_040448,NM_001126105,NM_001126106 SLC7A7,SLC7A7,SLC7A7 EXON Silent,Synonymous_T181T,Synonymous_T181T exm1088771 14 23282110 [A/G] NR_040448,NM_001126105,NM_001126106 SLC7A7,SLC7A7,SLC7A7 EXON Silent,Synonymous_I166I,Synonymous_I166I exm2222221 14 23282162 [A/G] NR_040448,NM_001126105,NM_001126106 SLC7A7,SLC7A7,SLC7A7 EXON Silent,Missense_P149L,Missense_P149L exm1088782 14 23282336 [A/G] NR_040448,NM_001126105,NM_001126106 SLC7A7,SLC7A7,SLC7A7 EXON Silent,Missense_A91V,Missense_A91V exm1088786 14 23282374 [A/G] NR_040448,NM_001126105,NM_001126106 SLC7A7,SLC7A7,SLC7A7 EXON Silent,Synonymous_V78V,Synonymous_V78V exm1088798 14 23299135 [T/G] NM_178336,NM_180982,NM_181304,NM_181306,NM_181305,NM_181307 MRPL52,MRPL52,MRPL52,MRPL52,MRPL52,MRPL52 EXON Missense_G5V,Missense_G5V,Silent,Silent,Silent,Missense_G5V exm1088803 14 23299286 [T/C] NM_178336,NM_180982,NM_181304,NM_181306,NM_181305,NM_181307 MRPL52,MRPL52,MRPL52,MRPL52,MRPL52,MRPL52 EXON Missense_V19A,Missense_V18A,Silent,Silent,Silent,Missense_V19A exm1088808 14 23299415 [T/C] NM_178336,NM_180982,NM_181304,NM_181306,NM_181305,NM_181307 MRPL52,MRPL52,MRPL52,MRPL52,MRPL52,MRPL52 EXON Missense_P37S,Missense_P36S,Silent,Silent,Silent,Missense_P37S exm1088820 14 23303413 [T/C] NM_178336,NM_180982,NM_181304,NM_181306,NM_181305,NM_181307 MRPL52,MRPL52,MRPL52,MRPL52,MRPL52,MRPL52 EXON Synonymous_D85D,Synonymous_D84D,Synonymous_D26D,Synonymous_D26D,Synonymous_D26D,Missense_R64C exm1088832 14 23310723 [A/C] NM_004995 MMP14 EXON Nonsense_Y44X exm1088846 14 23311732 [A/C] NM_004995 MMP14 EXON Missense_A165D exm1088848 14 23311764 [A/G] NM_004995 MMP14 EXON Missense_D176N exm1088854 14 23312474 [A/G] NM_004995 MMP14 EXON Missense_I233V exm1088860 14 23312594 [A/G] NM_004995 MMP14 EXON Missense_D273N exm1088861 14 23312603 [T/C] NM_004995 MMP14 EXON Missense_R276C exm1088867 14 23312931 [A/G] NM_004995 MMP14 EXON Missense_G288E exm2277065 14 23313596 [A/G] NM_004995 MMP14 EXON Missense_R343Q exm1088879 14 23313633 [A/G] NM_004995 MMP14 EXON Missense_M355I exm2222222 14 23313911 [A/G] NM_004995 MMP14 EXON Missense_R408Q exm1088892 14 23313980 [A/G] NM_004995 MMP14 EXON Missense_R431H exm1088911 14 23315190 [A/G] NM_004995 MMP14 EXON Missense_R564H exm2222223 14 23342582 [T/C] NM_014045 LRP10 EXON Missense_R48W exm1088931 14 23344264 [G/C] NM_014045 LRP10 EXON Missense_R72S exm1088936 14 23344373 [A/G] NM_014045 LRP10 EXON Missense_G109R exm1088940 14 23344572 [A/G] NM_014045 LRP10 EXON Missense_M139V exm1088942 14 23344609 [A/G] NM_014045 LRP10 EXON Missense_R151H exm1808614 14 23344800 [T/C] NM_014045 LRP10 EXON Missense_S215P exm1088953 14 23344848 [T/C] NM_014045 LRP10 EXON Missense_R231W exm1088971 14 23345133 [A/G] NM_014045 LRP10 EXON Missense_G326S exm1088977 14 23345287 [G/C] NM_014045 LRP10 EXON Missense_P377R exm1088983 14 23345436 [A/G] NM_014045 LRP10 EXON Missense_G427S exm1088992 14 23345931 [G/C] NM_014045 LRP10 EXON Missense_E486D exm1088993 14 23345974 [T/G] NM_014045 LRP10 EXON Missense_A501S exm1088996 14 23346025 [A/G] NM_014045 LRP10 EXON Missense_D518N exm1088999 14 23346231 [A/G] NM_014045 LRP10 EXON Missense_R546H exm1089003 14 23346254 [T/C] NM_014045 LRP10 EXON Nonsense_R554X exm1089006 14 23346279 [A/G] NM_014045 LRP10 EXON Missense_R562H exm1089010 14 23346317 [A/G] NM_014045 LRP10 EXON Missense_A575T exm1089014 14 23346392 [T/C] NM_014045 LRP10 EXON Missense_R600C exm1089015 14 23346393 [A/G] NM_014045 LRP10 EXON Missense_R600H exm1089032 14 23353895 [T/C] NM_173527 REM2 EXON Missense_T39M exm1089037 14 23354014 [T/C] NM_173527 REM2 EXON Missense_R79W exm1089038 14 23354066 [C/G] NM_173527 REM2 EXON Missense_G96A exm1089040 14 23354133 [A/G] NM_173527 REM2 EXON Missense_M118I exm1089042 14 23354149 [A/G] NM_173527 REM2 EXON Missense_G124S exm1808635 14 23354213 [T/C] NM_173527 REM2 EXON Missense_P145L exm1089050 14 23355232 [C/G] NM_173527 REM2 Silent exm1089052 14 23355282 [G/C] NM_173527 REM2 EXON Missense_A190G exm1089053 14 23355311 [T/C] NM_173527 REM2 EXON Nonsense_R200X exm1089076 14 23371055 [G/C] NM_001077352,NM_018107,NM_001077351 RBM23,RBM23,RBM23 EXON Missense_F394L,Missense_F412L,Missense_F428L exm1089083 14 23371285 [T/C] NM_001077352,NM_018107,NM_001077351 RBM23,RBM23,RBM23 EXON Missense_T350A,Missense_T368A,Missense_T384A exm1089092 14 23371522 [T/C] NM_001077352,NM_018107,NM_001077351 RBM23,RBM23,RBM23 EXON Missense_M300V,Missense_M318V,Missense_M334V exm1089095 14 23371567 [A/G] NM_001077352,NM_018107,NM_001077351 RBM23,RBM23,RBM23 EXON Missense_R285W,Missense_R303W,Missense_R319W exm1089103 14 23374130 [T/C] NM_001077352,NM_018107,NM_001077351 RBM23,RBM23,RBM23 EXON Missense_N239S,Missense_N257S,Missense_N273S exm1089108 14 23374161 [T/C] NM_001077352,NM_018107,NM_001077351 RBM23,RBM23,RBM23 EXON Missense_M229V,Missense_M247V,Missense_M263V exm1089122 14 23374568 [T/C] NM_001077352,NM_018107,NM_001077351 RBM23,RBM23,RBM23 EXON Missense_D150N,Missense_D168N,Missense_D184N exm1089129 14 23374658 [A/G] NM_001077352,NM_018107,NM_001077351 RBM23,RBM23,RBM23 EXON Missense_P120S,Missense_P138S,Missense_P154S exm1089144 14 23375564 [A/G] NM_001077352,NM_018107,NM_001077351 RBM23,RBM23,RBM23 EXON Missense_R65W,Missense_R65W,Missense_R81W exm1089147 14 23375578 [T/C] NM_001077352,NM_018107,NM_001077351 RBM23,RBM23,RBM23 Silent,Silent,Silent exm1089151 14 23378803 [A/T] NM_001077352,NM_018107,NM_001077351 RBM23,RBM23,RBM23 EXON Missense_D23V,Missense_D23V,Missense_D23V exm2222227 14 23392270 [T/C] NM_006109,NM_001039619 PRMT5,PRMT5 EXON Missense_R492H,Missense_R475H exm1089177 14 23393548 [T/C] NM_006109,NM_001039619 PRMT5,PRMT5 EXON Missense_R377Q,Missense_R360Q exm2251712 14 23393856 [A/G] NM_006109,NM_001039619 PRMT5,PRMT5 EXON Synonymous_Y334Y,Synonymous_Y317Y exm1089199 14 23395991 [G/C] NM_006109,NM_001039619 PRMT5,PRMT5 EXON Missense_E161D,Missense_E144D exm1089206 14 23397336 [A/G] NM_006109,NM_001039619 PRMT5,PRMT5 EXON Missense_A105V,Missense_A88V exm2251713 14 23397409 [A/G] NM_006109,NM_001039619 PRMT5,PRMT5 EXON Synonymous_L81L,Synonymous_L64L exm1089219 14 23415738 [T/C] NM_001166270,NM_001166269,NM_017815 HAUS4,HAUS4,HAUS4 EXON Missense_R318H,Missense_R363H,Missense_R363H exm1089228 14 23416446 [T/A] NM_001166270,NM_001166269,NM_017815 HAUS4,HAUS4,HAUS4 EXON Missense_M236K,Missense_M281K,Missense_M281K exm1089233 14 23416865 [A/G] NM_001166270,NM_001166269,NM_017815 HAUS4,HAUS4,HAUS4 EXON Missense_R217C,Missense_R262C,Missense_R262C exm1089245 14 23417216 [T/G] NM_001166270,NM_001166269,NM_017815 HAUS4,HAUS4,HAUS4 EXON Missense_D145A,Missense_D190A,Missense_D190A exm1089246 14 23419537 [T/C] NM_001166270,NM_001166269,NM_017815 HAUS4,HAUS4,HAUS4 EXON Missense_Y138C,Missense_Y183C,Missense_Y183C exm1089248 14 23419603 [T/C] NM_001166270,NM_001166269,NM_017815 HAUS4,HAUS4,HAUS4 EXON Missense_R116K,Missense_R161K,Missense_R161K exm1089256 14 23421568 [T/C] NM_001166270,NM_001166269,NM_017815 HAUS4,HAUS4,HAUS4 EXON Missense_Q100R,Missense_Q100R,Missense_Q100R exm1089271 14 23443320 [C/G] NM_032876,NM_198086 AJUBA,AJUBA EXON Missense_C476S,Missense_C59S exm1089276 14 23444301 [T/C] NM_032876,NM_198086 AJUBA,AJUBA EXON Missense_M418V,Missense_M1V exm1089287 14 23450548 [C/G] NM_032876 AJUBA EXON Missense_E310Q exm1089307 14 23451345 [A/G] NM_032876 AJUBA EXON Missense_P44L exm1089321 14 23456518 [T/G] NM_021944,NM_001130706,NM_001130708 C14orf93,C14orf93,C14orf93 EXON Missense_N508T,Missense_N508T,Missense_N508T exm1089336 14 23459033 [A/C] NM_021944,NM_001130706,NM_001130708 C14orf93,C14orf93,C14orf93 EXON Missense_I334M,Missense_I334M,Missense_I334M exm1089345 14 23465225 [T/C] NM_021944,NM_001130706,NM_001130708 C14orf93,C14orf93,C14orf93 EXON Missense_V284I,Missense_V284I,Missense_V284I exm1089354 14 23467655 [A/G] NM_021944,NM_001130706,NM_001130708 C14orf93,C14orf93,C14orf93 EXON Missense_A193V,Missense_A193V,Missense_A193V exm1089356 14 23467664 [A/G] NM_021944,NM_001130706,NM_001130708 C14orf93,C14orf93,C14orf93 EXON Missense_A190V,Missense_A190V,Missense_A190V exm1089359 14 23467700 [T/A] NM_021944,NM_001130706,NM_001130708 C14orf93,C14orf93,C14orf93 EXON Missense_Q178L,Missense_Q178L,Missense_Q178L exm1089360 14 23467718 [A/G] NM_021944,NM_001130706,NM_001130708 C14orf93,C14orf93,C14orf93 EXON Missense_L172S,Missense_L172S,Missense_L172S exm1089363 14 23467755 [A/G] NM_021944,NM_001130706,NM_001130708 C14orf93,C14orf93,C14orf93 EXON Missense_R160W,Missense_R160W,Missense_R160W exm1089367 14 23467839 [T/C] NM_021944,NM_001130706,NM_001130708 C14orf93,C14orf93,C14orf93 EXON Missense_G132R,Missense_G132R,Missense_G132R exm1089381 14 23468132 [G/C] NM_021944,NM_001130706,NM_001130708 C14orf93,C14orf93,C14orf93 EXON Missense_G34A,Missense_G34A,Missense_G34A exm1089394 14 23495387 [C/G] NM_002797,NM_001130725,NM_001144932 PSMB5,PSMB5,PSMB5 EXON Missense_L235V,Missense_L132V,Silent exm1089395 14 23495431 [T/C] NM_002797,NM_001130725,NM_001144932 PSMB5,PSMB5,PSMB5 EXON Missense_Y220C,Missense_Y117C,Silent exm1089396 14 23495443 [T/C] NM_002797,NM_001130725,NM_001144932 PSMB5,PSMB5,PSMB5 EXON Missense_R216H,Missense_R113H,Silent exm1089404 14 23502746 [C/G] NM_002797,NM_001130725,NM_001144932 PSMB5,PSMB5,PSMB5 EXON Missense_S112R,Missense_S9R,Missense_S112R exm1089413 14 23504021 [A/G] NM_002797,NM_001130725,NM_001144932 PSMB5,PSMB5,PSMB5 EXON Missense_R24C,Silent,Missense_R24C exm1089420 14 23511502 [A/G] NM_001099780 PSMB11 EXON Missense_R23Q exm1089423 14 23511538 [T/C] NM_001099780 PSMB11 EXON Missense_P35L exm1089426 14 23511579 [A/G] NM_001099780 PSMB11 EXON Missense_G49S exm1089429 14 23511600 [T/C] NM_001099780 PSMB11 EXON Missense_R56C exm1089430 14 23511601 [A/G] NM_001099780 PSMB11 EXON Missense_R56H exm1089432 14 23511607 [A/G] NM_001099780 PSMB11 EXON Missense_R58H exm1089438 14 23511694 [A/T] NM_001099780 PSMB11 EXON Missense_H87L exm1089441 14 23511751 [A/G] NM_001099780 PSMB11 EXON Missense_R106Q exm1089444 14 23511778 [A/G] NM_001099780 PSMB11 EXON Missense_R115Q exm1089447 14 23511802 [T/C] NM_001099780 PSMB11 EXON Missense_P123L exm1089451 14 23511898 [A/G] NM_001099780 PSMB11 EXON Missense_R155H exm1089453 14 23511928 [A/G] NM_001099780 PSMB11 EXON Missense_S165N exm1089457 14 23511939 [T/C] NM_001099780 PSMB11 EXON Missense_R169C exm1089458 14 23511940 [A/G] NM_001099780 PSMB11 EXON Missense_R169H exm1089459 14 23511990 [A/G] NM_001099780 PSMB11 EXON Missense_G186S exm1089463 14 23512011 [T/C] NM_001099780 PSMB11 EXON Missense_R193C exm1089467 14 23512041 [A/G] NM_001099780 PSMB11 EXON Missense_A203T exm1089468 14 23512056 [A/G] NM_001099780 PSMB11 EXON Missense_A208T exm1089470 14 23512072 [T/C] NM_001099780 PSMB11 EXON Missense_T213I exm1089475 14 23512147 [A/G] NM_001099780 PSMB11 EXON Missense_R238H exm1089499 14 23517629 [T/C] NM_022478,NM_144985 CDH24,CDH24 EXON Missense_E674K,Missense_E636K exm1089508 14 23518350 [A/G] NM_022478,NM_144985 CDH24,CDH24 EXON Missense_R616C,Missense_R578C exm1089523 14 23519131 [T/C] NM_022478,NM_144985 CDH24,CDH24 EXON Missense_R500H,Missense_R462H exm1089529 14 23521721 [A/G] NM_022478,NM_144985 CDH24,CDH24 EXON Missense_R442C,Missense_R442C exm1089532 14 23521802 [T/G] NM_022478,NM_144985 CDH24,CDH24 EXON Missense_H415N,Missense_H415N exm1089539 14 23522937 [T/G] NM_022478,NM_144985 CDH24,CDH24 EXON Missense_R332S,Missense_R332S exm2251714 14 23523353 [T/G] NM_022478,NM_144985 CDH24,CDH24 EXON Synonymous_R323R,Synonymous_R323R exm1089545 14 23523440 [T/C] NM_022478,NM_144985 CDH24,CDH24 EXON Missense_M294I,Missense_M294I exm2251715 14 23524455 [T/A] NM_022478,NM_144985 CDH24,CDH24 EXON Synonymous_V103V,Synonymous_V103V exm1089571 14 23524466 [T/C] NM_022478,NM_144985 CDH24,CDH24 EXON Missense_N100D,Missense_N100D exm1089580 14 23524771 [T/C] NM_022478,NM_144985 CDH24,CDH24 EXON Missense_A58T,Missense_A58T exm1089582 14 23524821 [T/C] NM_022478,NM_144985 CDH24,CDH24 EXON Missense_R41Q,Missense_R41Q exm1089584 14 23524845 [T/C] NM_022478,NM_144985 CDH24,CDH24 EXON Missense_E33G,Missense_E33G exm1089585 14 23524849 [A/G] NM_022478,NM_144985 CDH24,CDH24 EXON Missense_R32W,Missense_R32W exm1089594 14 23528421 [A/G] NM_001164815,NM_001164817,NM_001164814,NM_014977,NM_001164816 ACIN1,ACIN1,ACIN1,ACIN1,ACIN1 EXON Missense_T1281I,Missense_T563I,Missense_T1308I,Missense_T1321I,Missense_T594I exm1089599 14 23528517 [T/C] NM_001164815,NM_001164817,NM_001164814,NM_014977,NM_001164816 ACIN1,ACIN1,ACIN1,ACIN1,ACIN1 EXON Missense_R1249K,Missense_R531K,Missense_R1276K,Missense_R1289K,Missense_R562K exm1089604 14 23530293 [T/C] NM_001164815,NM_001164817,NM_001164814,NM_014977,NM_001164816 ACIN1,ACIN1,ACIN1,ACIN1,ACIN1 EXON Synonymous_Q1193Q,Synonymous_Q475Q,Synonymous_Q1220Q,Synonymous_Q1233Q,Synonymous_Q506Q exm1089609 14 23530542 [A/C] NM_001164815,NM_001164817,NM_001164814,NM_014977,NM_001164816 ACIN1,ACIN1,ACIN1,ACIN1,ACIN1 EXON Missense_R1148L,Missense_R430L,Missense_R1175L,Missense_R1188L,Missense_R461L exm1089610 14 23530558 [A/G] NM_001164815,NM_001164817,NM_001164814,NM_014977,NM_001164816 ACIN1,ACIN1,ACIN1,ACIN1,ACIN1 EXON Missense_R1143C,Missense_R425C,Missense_R1170C,Missense_R1183C,Missense_R456C exm1089629 14 23531439 [T/C] NM_001164815,NM_001164817,NM_001164814,NM_014977,NM_001164816 ACIN1,ACIN1,ACIN1,ACIN1,ACIN1 EXON Missense_G1031R,Missense_G313R,Missense_G1058R,Missense_G1071R,Missense_G344R exm1089636 14 23531731 [A/C] NM_001164815,NM_001164817,NM_001164814,NM_014977,NM_001164816 ACIN1,ACIN1,ACIN1,ACIN1,ACIN1 EXON Missense_V980G,Missense_V262G,Missense_V1007G,Missense_V1020G,Missense_V293G exm1089640 14 23532193 [T/C] NM_001164815,NM_001164817,NM_001164814,NM_014977,NM_001164816 ACIN1,ACIN1,ACIN1,ACIN1,ACIN1 EXON Missense_Q961R,Missense_Q243R,Missense_Q988R,Missense_Q1001R,Missense_Q274R exm1089654 14 23538750 [T/C] NM_001164815,NM_001164817,NM_001164814,NM_014977,NM_001164816 ACIN1,ACIN1,ACIN1,ACIN1,ACIN1 EXON Missense_I752V,Missense_I34V,Missense_I792V,Missense_I792V,Missense_I65V exm1089662 14 23540652 [A/G] NM_001164815,NM_001164817,NM_001164814,NM_014977,NM_001164816 ACIN1,ACIN1,ACIN1,ACIN1,ACIN1 EXON Silent,Silent,Silent,Silent,Nonsense_R34X exm1089678 14 23548096 [T/C] NM_001164815,NM_001164814,NM_014977 ACIN1,ACIN1,ACIN1 EXON Missense_Q665R,Missense_Q705R,Missense_Q705R exm1089684 14 23548787 [T/C] NM_001164815,NM_001164814,NM_014977 ACIN1,ACIN1,ACIN1 EXON Missense_R604H,Missense_R644H,Missense_R644H exm1089685 14 23548793 [T/C] NM_001164815,NM_001164814,NM_014977 ACIN1,ACIN1,ACIN1 EXON Missense_R602H,Missense_R642H,Missense_R642H exm1089686 14 23548798 [A/C] NM_001164815,NM_001164814,NM_014977 ACIN1,ACIN1,ACIN1 EXON Missense_R600S,Missense_R640S,Missense_R640S exm1089697 14 23548980 [A/G] NM_001164815,NM_001164814,NM_014977 ACIN1,ACIN1,ACIN1 EXON Missense_R540W,Missense_R580W,Missense_R580W exm1089698 14 23549022 [A/G] NM_001164815,NM_001164814,NM_014977 ACIN1,ACIN1,ACIN1 EXON Missense_P526S,Missense_P566S,Missense_P566S exm1089702 14 23549165 [A/T] NM_001164815,NM_001164814,NM_014977 ACIN1,ACIN1,ACIN1 EXON Missense_L478H,Missense_L518H,Missense_L518H exm1089704 14 23549211 [C/G] NM_001164815,NM_001164814,NM_014977 ACIN1,ACIN1,ACIN1 EXON Missense_L463V,Missense_L503V,Missense_L503V exm1089707 14 23549278 [G/C] NM_001164815,NM_001164814,NM_014977 ACIN1,ACIN1,ACIN1 EXON Missense_L440F,Missense_L480F,Missense_L480F exm1089708 14 23549285 [A/G] NM_001164815,NM_001164814,NM_014977 ACIN1,ACIN1,ACIN1 EXON Missense_S438F,Missense_S478F,Missense_S478F exm1089709 14 23549319 [A/G] NM_001164815,NM_001164814,NM_014977 ACIN1,ACIN1,ACIN1 EXON Missense_S427P,Missense_S467P,Missense_S467P exm1089713 14 23549405 [A/C] NM_001164815,NM_001164814,NM_014977 ACIN1,ACIN1,ACIN1 EXON Missense_I398R,Missense_I438R,Missense_I438R exm1089714 14 23549444 [A/G] NM_001164815,NM_001164814,NM_014977 ACIN1,ACIN1,ACIN1 EXON Missense_S385F,Missense_S425F,Missense_S425F exm1089731 14 23549747 [A/G] NM_001164815,NM_001164814,NM_014977 ACIN1,ACIN1,ACIN1 EXON Missense_P284L,Missense_P324L,Missense_P324L exm1089732 14 23549785 [T/C] NM_001164815,NM_001164814,NM_014977 ACIN1,ACIN1,ACIN1 EXON Missense_I271M,Missense_I311M,Missense_I311M exm1089734 14 23549796 [T/C] NM_001164815,NM_001164814,NM_014977 ACIN1,ACIN1,ACIN1 EXON Missense_G268R,Missense_G308R,Missense_G308R exm1089736 14 23549822 [A/G] NM_001164815,NM_001164814,NM_014977 ACIN1,ACIN1,ACIN1 EXON Missense_P259L,Missense_P299L,Missense_P299L exm1089738 14 23549850 [A/C] NM_001164815,NM_001164814,NM_014977 ACIN1,ACIN1,ACIN1 EXON Missense_D250Y,Missense_D290Y,Missense_D290Y exm1089745 14 23549948 [T/C] NM_001164815,NM_001164814,NM_014977 ACIN1,ACIN1,ACIN1 EXON Missense_R217K,Missense_R257K,Missense_R257K exm1089770 14 23564353 [A/G] NM_001164815,NM_001164814,NM_014977 ACIN1,ACIN1,ACIN1 EXON Missense_A48V,Missense_A48V,Missense_A48V exm1089778 14 23564437 [T/C] NM_001164815,NM_001164814,NM_014977 ACIN1,ACIN1,ACIN1 EXON Missense_N20S,Missense_N20S,Missense_N20S exm1089809 14 23586700 [T/C] NM_001805 CEBPE EXON Missense_S281N exm1089834 14 23587838 [T/G] NM_001805 CEBPE EXON Missense_L155M exm1089835 14 23587891 [T/C] NM_001805 CEBPE EXON Missense_S137N exm1089846 14 23588096 [A/G] NM_001805 CEBPE EXON Missense_L69F exm-rs2239633 14 23589057 [A/G] exm1089864 14 23596514 [T/C] NM_001267036,NM_001267037,NM_182728,NM_012244,NR_049767 SLC7A8,SLC7A8,SLC7A8,SLC7A8,SLC7A8 EXON Missense_V389M,Missense_V270M,Missense_V291M,Missense_V494M,Silent exm1089865 14 23596522 [T/C] NM_001267036,NM_001267037,NM_182728,NM_012244,NR_049767 SLC7A8,SLC7A8,SLC7A8,SLC7A8,SLC7A8 EXON Missense_C386Y,Missense_C267Y,Missense_C288Y,Missense_C491Y,Silent exm1089866 14 23596534 [T/C] NM_001267036,NM_001267037,NM_182728,NM_012244,NR_049767 SLC7A8,SLC7A8,SLC7A8,SLC7A8,SLC7A8 EXON Missense_S382N,Missense_S263N,Missense_S284N,Missense_S487N,Silent exm2251716 14 23596740 [A/G] NM_001267036,NM_001267037,NM_182728,NM_012244,NR_049767 SLC7A8,SLC7A8,SLC7A8,SLC7A8,SLC7A8 Silent,Silent,Silent,Silent,Silent exm1089872 14 23598870 [A/G] NM_001267036,NM_001267037,NM_182728,NM_012244,NR_049767 SLC7A8,SLC7A8,SLC7A8,SLC7A8,SLC7A8 EXON Missense_R313C,Missense_R194C,Missense_R215C,Missense_R418C,Silent exm1089878 14 23598971 [A/G] NM_001267036,NM_001267037,NM_182728,NM_012244,NR_049767 SLC7A8,SLC7A8,SLC7A8,SLC7A8,SLC7A8 EXON Missense_M279T,Missense_M160T,Missense_M181T,Missense_M384T,Silent exm2222241 14 23600708 [T/C] NM_001267036,NM_001267037,NM_182728,NM_012244,NR_049767 SLC7A8,SLC7A8,SLC7A8,SLC7A8,SLC7A8 EXON Missense_V254M,Missense_V135M,Missense_V156M,Missense_V359M,Silent exm1089899 14 23608641 [T/C] NM_001267036,NM_001267037,NM_182728,NM_012244,NR_049767 SLC7A8,SLC7A8,SLC7A8,SLC7A8,SLC7A8 EXON Missense_V197I,Missense_V78I,Missense_V99I,Missense_V302I,Silent exm1089902 14 23608672 [T/C] NM_001267036,NM_001267037,NM_182728,NM_012244,NR_049767 SLC7A8,SLC7A8,SLC7A8,SLC7A8,SLC7A8 EXON Missense_M186I,Missense_M67I,Missense_M88I,Missense_M291I,Silent exm1089909 14 23609774 [T/C] NM_001267036,NM_001267037,NM_182728,NM_012244,NR_049767 SLC7A8,SLC7A8,SLC7A8,SLC7A8,SLC7A8 EXON Missense_G127S,Silent,Missense_G29S,Missense_G232S,Silent exm1089916 14 23612380 [T/C] NM_001267036,NM_001267037,NM_182728,NM_012244,NR_049767 SLC7A8,SLC7A8,SLC7A8,SLC7A8,SLC7A8 EXON Missense_R76Q,Synonymous_A8A,Silent,Missense_R181Q,Silent exm2267698 14 23628827 [A/G] NM_012244 SLC7A8 Silent exm1089926 14 23635621 [T/C] NM_012244 SLC7A8 EXON Missense_A94T exm1089934 14 23652038 [A/G] NM_012244 SLC7A8 EXON Missense_S29F exm1089938 14 23652072 [A/C] NM_012244 SLC7A8 EXON Missense_G18W exm1089939 14 23652077 [C/G] NM_012244 SLC7A8 EXON Missense_P16R exm1089950 14 23744806 [T/C] NM_020834 HOMEZ EXON Missense_D544G exm2274677 14 23744820 [T/A] NM_020834 HOMEZ EXON Missense_D539E exm1089962 14 23744932 [T/C] NM_020834 HOMEZ EXON Missense_R502Q exm1089969 14 23745008 [A/G] NM_020834 HOMEZ EXON Missense_R477W exm1089970 14 23745014 [G/C] NM_020834 HOMEZ EXON Missense_Q475E exm1089971 14 23745016 [T/C] NM_020834 HOMEZ EXON Missense_Q474R exm1089978 14 23745263 [T/C] NM_020834 HOMEZ EXON Missense_I392V exm1089982 14 23745371 [A/G] NM_020834 HOMEZ EXON Missense_R356C exm1089984 14 23745376 [A/G] NM_020834 HOMEZ EXON Missense_M354T exm2274678 14 23745430 [A/C] NM_020834 HOMEZ EXON Missense_R336L exm1089992 14 23745520 [A/G] NM_020834 HOMEZ EXON Missense_L306P exm1089995 14 23745533 [T/C] NM_020834 HOMEZ EXON Missense_A302T exm1090001 14 23745607 [A/G] NM_020834 HOMEZ EXON Missense_S277L exm1090002 14 23745668 [A/G] NM_020834 HOMEZ EXON Missense_P257S exm1090008 14 23745769 [A/G] NM_020834 HOMEZ EXON Missense_L223P exm1090011 14 23745910 [A/G] NM_020834 HOMEZ EXON Missense_T176I exm2272055 14 23761094 [T/C] exm1090031 14 23777208 [T/C] NM_001199864,NM_004050,NM_001199839 BCL2L2-PABPN1,BCL2L2,BCL2L2 EXON Missense_R78C,Missense_R78C,Missense_R78C exm1090040 14 23777374 [A/G] NM_001199864,NM_004050,NM_001199839 BCL2L2-PABPN1,BCL2L2,BCL2L2 EXON Missense_Q133R,Missense_Q133R,Missense_Q133R exm1090046 14 23778074 [A/G] NM_001199864,NM_004050,NM_001199839 BCL2L2-PABPN1,BCL2L2,BCL2L2 EXON Silent,Missense_R161H,Missense_R161H exm1090060 14 23792242 [A/G] NM_001199864,NM_004643 BCL2L2-PABPN1,PABPN1 EXON Missense_M194I,Missense_M167I exm1090090 14 23816039 [T/G] NM_020372,NM_016609 SLC22A17,SLC22A17 EXON Missense_L479M,Missense_L461M exm1090095 14 23816406 [A/G] NM_020372,NM_016609 SLC22A17,SLC22A17 EXON Missense_A411V,Missense_A393V exm1090096 14 23816670 [T/A] NM_020372,NM_016609 SLC22A17,SLC22A17 EXON Missense_R405S,Silent exm1090098 14 23816771 [T/C] NM_020372,NM_016609 SLC22A17,SLC22A17 EXON Missense_M372V,Missense_M372V exm1090141 14 23821251 [A/G] NM_020372,NM_016609 SLC22A17,SLC22A17 EXON Missense_S58L,Missense_S58L exm1090143 14 23821312 [T/C] NM_020372,NM_016609 SLC22A17,SLC22A17 EXON Missense_V38I,Missense_V38I exm1090154 14 23826539 [T/C] NM_005864,NM_032459 EFS,EFS EXON Missense_G528S,Missense_G435S exm1090157 14 23826635 [T/C] NM_005864,NM_032459 EFS,EFS EXON Missense_A496T,Missense_A403T exm1090163 14 23826730 [T/G] NM_005864,NM_032459 EFS,EFS EXON Missense_N464T,Missense_N371T exm1090164 14 23826761 [T/C] NM_005864,NM_032459 EFS,EFS EXON Missense_V454M,Missense_V361M exm1090166 14 23826790 [T/C] NM_005864,NM_032459 EFS,EFS EXON Missense_Q444R,Missense_Q351R exm1090176 14 23828141 [T/C] NM_005864,NM_032459 EFS,EFS EXON Missense_D399N,Missense_D306N exm1090177 14 23828143 [A/G] NM_005864,NM_032459 EFS,EFS EXON Missense_P398L,Missense_P305L exm1090178 14 23828146 [G/C] NM_005864,NM_032459 EFS,EFS EXON Missense_P397R,Missense_P304R exm1090190 14 23828857 [T/C] NM_005864,NM_032459 EFS,EFS EXON Missense_Q277R,Missense_Q184R exm1090191 14 23828893 [A/G] NM_005864,NM_032459 EFS,EFS EXON Missense_S265F,Missense_S172F exm1090193 14 23828978 [T/C] NM_005864,NM_032459 EFS,EFS EXON Missense_E237K,Missense_E144K exm1090194 14 23828995 [T/C] NM_005864,NM_032459 EFS,EFS EXON Missense_N231S,Missense_N138S exm1090198 14 23829059 [A/G] NM_005864,NM_032459 EFS,EFS EXON Missense_R210W,Missense_R117W exm1090199 14 23829080 [T/C] NM_005864,NM_032459 EFS,EFS EXON Missense_D203N,Missense_D110N exm1090204 14 23829164 [A/G] NM_005864,NM_032459 EFS,EFS EXON Missense_R175W,Missense_R82W exm1090205 14 23829206 [T/C] NM_005864,NM_032459 EFS,EFS EXON Missense_G161S,Missense_G68S exm2222247 14 23829232 [T/G] NM_005864,NM_032459 EFS,EFS EXON Missense_P152H,Missense_P59H exm1090210 14 23829369 [T/G] NM_005864,NM_032459 EFS,EFS EXON Missense_A140D,Missense_A47D exm1090216 14 23829490 [T/C] NM_005864,NM_032459 EFS,EFS EXON Missense_V100M,Missense_V7M exm1090223 14 23829862 [A/G] NM_005864,NM_032459 EFS,EFS EXON Missense_P67S,Silent exm1090225 14 23829883 [T/C] NM_005864,NM_032459 EFS,EFS EXON Missense_A60T,Silent exm1090228 14 23829943 [T/C] NM_005864,NM_032459 EFS,EFS EXON Missense_A40T,Silent exm1090232 14 23829961 [T/C] NM_005864,NM_032459 EFS,EFS EXON Missense_V34I,Silent exm1090253 14 23842533 [A/G] NM_172314,NM_022789 IL25,IL25 EXON Missense_R53H,Missense_R69H exm1809016 14 23842552 [A/G] NM_172314,NM_022789 IL25,IL25 EXON Synonymous_R59R,Synonymous_R75R exm1090256 14 23844853 [T/C] NM_172314,NM_022789 IL25,IL25 EXON Missense_R84W,Missense_R100W exm1090259 14 23844893 [T/C] NM_172314,NM_022789 IL25,IL25 EXON Missense_P97L,Missense_P113L exm1090261 14 23844901 [A/G] NM_172314,NM_022789 IL25,IL25 EXON Missense_V100I,Missense_V116I exm1090270 14 23845041 [A/C] NM_172314,NM_022789 IL25,IL25 EXON Nonsense_Y146X,Nonsense_Y162X exm1090274 14 23845070 [A/G] NM_172314,NM_022789 IL25,IL25 EXON Missense_R156Q,Missense_R172Q exm1090275 14 23845076 [A/G] NM_172314,NM_022789 IL25,IL25 EXON Missense_R158H,Missense_R174H exm1090284 14 23846482 [T/C] NM_138460,NM_001037288 CMTM5,CMTM5 EXON Missense_R8W,Missense_R8W exm1090295 14 23847681 [T/C] NM_138460,NM_001037288 CMTM5,CMTM5 EXON Missense_R84C,Missense_R84C exm1090313 14 23848250 [A/G] NM_138460,NM_001037288 CMTM5,CMTM5 EXON Missense_R97H,Silent exm1090314 14 23848306 [T/C] NM_138460,NM_001037288 CMTM5,CMTM5 EXON Missense_R116W,Silent exm1090319 14 23848563 [A/G] NM_138460,NM_001037288 CMTM5,CMTM5 EXON Missense_R143Q,Missense_R112Q exm1090324 14 23848688 [T/C] NM_138460,NM_001037288 CMTM5,CMTM5 EXON Nonsense_Q155X,Nonsense_Q124X exm1090339 14 23851739 [G/C] NM_002471 MYH6 EXON Missense_F1898L exm1090343 14 23852468 [T/C] NM_002471 MYH6 EXON Missense_K1876R exm1090381 14 23854213 [A/G] NM_002471 MYH6 EXON Missense_S1734L exm1090429 14 23856793 [A/C] NM_002471 MYH6 EXON Missense_R1532L exm1090430 14 23856794 [A/G] NM_002471 MYH6 EXON Missense_R1532C exm1090434 14 23856861 [T/C] NM_002471 MYH6 EXON Synonymous_E1509E exm1090436 14 23856987 [T/C] NM_002471 MYH6 EXON Missense_R1502Q exm1809071 14 23857430 [T/C] NM_002471 MYH6 EXON Missense_M1431I exm1090461 14 23857530 [T/C] NM_002471 MYH6 EXON Missense_R1398Q exm1090474 14 23858107 [A/G] NM_002471 MYH6 EXON Missense_T1379M exm1090522 14 23862173 [T/C] NM_002471 MYH6 EXON Missense_S1067G exm1090530 14 23862646 [A/C] NM_002471 MYH6 EXON Missense_A1004S exm1090537 14 23862913 [A/C] NM_002471 MYH6 EXON Missense_A964S exm1090541 14 23862996 [A/G] NM_002471 MYH6 EXON Missense_A936V exm1090542 14 23862997 [A/C] NM_002471 MYH6 EXON Missense_A936S exm1090555 14 23863348 [A/G] NM_002471 MYH6 EXON Missense_R872C exm1090559 14 23863362 [T/C] NM_002471 MYH6 EXON Missense_K867R exm1090560 14 23863383 [T/C] NM_002471 MYH6 EXON Missense_R860H exm1090567 14 23865539 [A/G] NM_002471 MYH6 EXON Missense_R795W exm-rs452036 14 23865885 [A/G] NM_002471 MYH6 Silent exm1090586 14 23866269 [T/C] NM_002471 MYH6 EXON Missense_V691I exm1090599 14 23868065 [T/G] NM_002471 MYH6 EXON Missense_D588A exm1090600 14 23868075 [T/C] NM_002471 MYH6 EXON Missense_G585S exm1090629 14 23870067 [T/C] NM_002471 MYH6 EXON Missense_V421M exm1090630 14 23870076 [T/C] NM_002471 MYH6 EXON Missense_V418M exm1090645 14 23871727 [A/T] NM_002471 MYH6 EXON Missense_M363L exm1090664 14 23872624 [A/C] NM_002471 MYH6 EXON Missense_Q277H exm1090665 14 23872631 [T/A] NM_002471 MYH6 EXON Missense_I275N exm1090674 14 23873927 [A/G] NM_002471 MYH6 EXON Missense_A212V exm1090675 14 23873940 [T/C] NM_002471 MYH6 EXON Missense_D208N exm1090676 14 23873951 [T/C] NM_002471 MYH6 EXON Missense_R204H exm1090695 14 23874590 [T/C] NM_002471 MYH6 Silent exm1090701 14 23874889 [T/C] NM_002471 MYH6 EXON Missense_E98K exm1090708 14 23876267 [T/C] NM_002471 MYH6 EXON Missense_G56R exm1090710 14 23876318 [T/C] NM_002471 MYH6 EXON Missense_V39M exm1090712 14 23876347 [T/C] NM_002471 MYH6 EXON Missense_R29Q exm1090749 14 23884630 [T/C] NM_000257 MYH7 EXON Missense_C1748Y exm1090754 14 23884838 [T/C] NM_000257 MYH7 EXON Synonymous_Q1719Q exm1090768 14 23885262 [A/G] NM_000257 MYH7 EXON Missense_M1635T exm1090788 14 23886409 [G/C] NM_000257 MYH7 EXON Missense_S1491C exm1809219 14 23888691 [T/C] NM_000257 MYH7 Silent exm1809220 14 23888744 [G/C] NM_000257 MYH7 EXON Missense_Q1267H exm1090861 14 23891518 [T/C] NM_000257 MYH7 EXON Missense_E1039G exm1090872 14 23893116 [T/C] NM_000257 MYH7 EXON Synonymous_K974K exm1090875 14 23893148 [G/C] NM_000257 MYH7 EXON Missense_V964L exm1090969 14 23900794 [A/G] NM_000257 MYH7 EXON Synonymous_F244F exm1090972 14 23901012 [T/C] NM_000257 MYH7 EXON Synonymous_A199A exm2251720 14 23901012 [T/C] NM_000257 MYH7 EXON Synonymous_A199A exm2251721 14 23901876 [A/G] NM_000257 MYH7 EXON Synonymous_S158S exm1090982 14 23902293 [A/G] NM_000257 MYH7 EXON Synonymous_Y115Y exm1090995 14 23902865 [A/G] NM_000257 MYH7 EXON Missense_A26V exm1091001 14 23938929 [T/C] NM_015514,NM_001042635 NGDN,NGDN EXON Missense_A2V,Missense_A2V exm1091004 14 23939266 [G/C] NM_015514,NM_001042635 NGDN,NGDN EXON Missense_D10H,Missense_D10H exm1091005 14 23939281 [T/G] NM_015514,NM_001042635 NGDN,NGDN EXON Missense_V15L,Missense_V15L exm1091009 14 23939305 [A/G] NM_015514,NM_001042635 NGDN,NGDN EXON Missense_E23K,Missense_E23K exm2222263 14 23944446 [A/C] NM_015514,NM_001042635 NGDN,NGDN EXON Missense_I71L,Missense_I71L exm1091021 14 23944467 [T/G] NM_015514,NM_001042635 NGDN,NGDN EXON Nonsense_G78X,Nonsense_G78X exm1091034 14 23945263 [T/A] NM_015514,NM_001042635 NGDN,NGDN EXON Missense_D149V,Missense_D149V exm1091040 14 23945331 [C/G] NM_015514,NM_001042635 NGDN,NGDN EXON Missense_V172L,Missense_V172L exm1091043 14 23945478 [A/G] NM_015514,NM_001042635 NGDN,NGDN EXON Missense_R192H,Missense_R192H exm1091044 14 23945498 [T/C] NM_015514,NM_001042635 NGDN,NGDN EXON Missense_R199W,Missense_R199W exm1091046 14 23945565 [A/G] NM_015514,NM_001042635 NGDN,NGDN EXON Missense_R221H,Missense_R221H exm1091057 14 23946520 [A/C] NM_015514,NM_001042635 NGDN,NGDN EXON Missense_F275L,Missense_F275L exm1091061 14 23946733 [T/C] NM_015514,NM_001042635 NGDN,NGDN EXON Missense_R298W,Missense_R298W exm1809302 14 23946757 [C/G] NM_015514,NM_001042635 NGDN,NGDN EXON Missense_R306G,Missense_R306G exm1091062 14 23946764 [T/A] NM_015514,NM_001042635 NGDN,NGDN EXON Missense_K308I,Missense_K308I exm1091066 14 23947221 [T/C] NM_015514,NM_001042635 NGDN,NGDN EXON Silent,Missense_R312W exm-rs223116 14 23977010 [A/G] exm1091082 14 23992742 [T/G] NR_046051,NR_046052,NM_033400 THTPA,THTPA,ZFHX2 EXON Silent,Silent,Missense_S2137R exm1091083 14 23992753 [T/G] NR_046051,NR_046052,NM_033400 THTPA,THTPA,ZFHX2 EXON Silent,Silent,Missense_T2133N exm2222269 14 23993420 [A/G] NR_046051,NR_046052,NM_033400 THTPA,THTPA,ZFHX2 EXON Silent,Silent,Missense_R1911W exm1091087 14 23993689 [A/G] NR_046051,NR_046052,NM_033400 THTPA,THTPA,ZFHX2 EXON Silent,Silent,Missense_A1821V exm1091095 14 23994145 [A/G] NR_046051,NR_046052,NM_033400 THTPA,THTPA,ZFHX2 EXON Silent,Silent,Missense_A1669V exm1091096 14 23994517 [A/G] NR_046051,NR_046052,NM_033400 THTPA,THTPA,ZFHX2 EXON Silent,Silent,Missense_V1545A exm1091105 14 23996935 [T/C] NR_046051,NR_046052,NM_033400 THTPA,THTPA,ZFHX2 EXON Silent,Silent,Missense_V1005M exm1091111 14 24002201 [T/C] NR_046051,NR_046052,NM_033400 THTPA,THTPA,ZFHX2 EXON Silent,Silent,Missense_D712N exm1091115 14 24002887 [T/G] NR_046051,NR_046052,NM_033400 THTPA,THTPA,ZFHX2 EXON Silent,Silent,Missense_P550T exm1091130 14 24026174 [T/G] NR_046051,NR_046052,NR_023314,NM_001256322,NM_001256062,NM_001126339,NM_001256321,NM_024328,NM_001256323 THTPA,THTPA,THTPA,THTPA,THTPA,THTPA,THTPA,THTPA,THTPA EXON Silent,Silent,Silent,Missense_A70S,Missense_A70S,Missense_A70S,Missense_A70S,Missense_A70S,Missense_A70S exm1091148 14 24026493 [A/G] NR_046051,NR_046052,NR_023314,NM_001256322,NM_001256062,NM_001126339,NM_001256321,NM_024328,NM_001256323 THTPA,THTPA,THTPA,THTPA,THTPA,THTPA,THTPA,THTPA,THTPA EXON Silent,Silent,Silent,Silent,Silent,Missense_H176R,Silent,Missense_H176R,Silent exm1091163 14 24029037 [T/C] NM_003917 AP1G2 EXON Missense_R760H exm1809316 14 24029155 [A/G] NM_003917 AP1G2 EXON Missense_P750S exm1091170 14 24029196 [T/C] NM_003917 AP1G2 EXON Missense_R736Q exm1091180 14 24030767 [T/G] NM_003917 AP1G2 EXON Missense_E604A exm1091183 14 24031198 [A/G] NM_003917 AP1G2 EXON Missense_T569I exm1091184 14 24031217 [A/G] NM_003917 AP1G2 EXON Missense_R563W exm1091186 14 24031267 [T/C] NM_003917 AP1G2 EXON Missense_R546H exm1809327 14 24031268 [A/G] NM_003917 AP1G2 EXON Missense_R546C exm1091188 14 24031515 [T/C] NM_003917 AP1G2 EXON Missense_R537H exm1091193 14 24032624 [A/G] NM_003917 AP1G2 EXON Missense_R459C exm1091194 14 24032626 [T/C] NM_003917 AP1G2 EXON Missense_R458H exm1091195 14 24032627 [A/G] NM_003917 AP1G2 EXON Missense_R458C exm1091198 14 24032660 [A/C] NM_003917 AP1G2 EXON Missense_G447W exm2274679 14 24032695 [T/C] NM_003917 AP1G2 EXON Missense_R435Q exm1091204 14 24032813 [T/C] NM_003917 AP1G2 EXON Missense_I423V exm1091208 14 24033018 [T/C] NM_003917 AP1G2 EXON Missense_R380Q exm1091209 14 24033027 [A/G] NM_003917 AP1G2 EXON Missense_S377F exm-rs2281680 14 24033070 [T/C] NM_003917 AP1G2 Silent exm1091212 14 24033254 [T/C] NM_003917 AP1G2 Silent exm1091218 14 24033309 [T/C] NM_003917 AP1G2 EXON Missense_R346Q exm1091222 14 24033343 [A/G] NM_003917 AP1G2 EXON Nonsense_R335X exm1809347 14 24033790 [T/C] NM_003917 AP1G2 EXON Missense_R301H exm1091227 14 24033791 [A/G] NM_003917 AP1G2 EXON Missense_R301C exm1091238 14 24034386 [T/C] NM_003917 AP1G2 EXON Missense_R255Q exm1091246 14 24035047 [A/G] NM_003917 AP1G2 EXON Missense_A208V exm1091248 14 24035060 [T/C] NM_003917 AP1G2 EXON Missense_E204K exm1091250 14 24035071 [A/G] NM_003917 AP1G2 EXON Missense_T200M exm1091260 14 24035548 [T/C] NM_003917 AP1G2 EXON Missense_R137Q exm1091263 14 24035772 [T/C] NM_003917 AP1G2 EXON Missense_N110D exm1809362 14 24036478 [A/G] NM_003917 AP1G2 EXON Missense_R16C exm1091290 14 24040436 [T/C] NM_032452,NM_001146028 JPH4,JPH4 EXON Missense_A502T,Missense_A502T exm1091294 14 24040454 [A/G] NM_032452,NM_001146028 JPH4,JPH4 EXON Missense_P496S,Missense_P496S exm1091306 14 24040666 [T/C] NM_032452,NM_001146028 JPH4,JPH4 EXON Missense_R425H,Missense_R425H exm1091308 14 24041061 [T/C] NM_032452,NM_001146028 JPH4,JPH4 EXON Missense_R407Q,Missense_R407Q exm1091338 14 24108092 [T/C] NM_182908,NM_005794 DHRS2,DHRS2 EXON Missense_R7W,Missense_R7W exm1091339 14 24108093 [A/G] NM_182908,NM_005794 DHRS2,DHRS2 EXON Missense_R7Q,Missense_R7Q exm1091342 14 24108161 [A/G] NM_182908,NM_005794 DHRS2,DHRS2 EXON Missense_R30G,Missense_R30G exm1091351 14 24108198 [T/C] NM_182908,NM_005794 DHRS2,DHRS2 EXON Missense_T42M,Missense_T42M exm1091354 14 24108407 [T/C] NM_182908,NM_005794 DHRS2,DHRS2 EXON Nonsense_R54X,Nonsense_R54X exm1091355 14 24108411 [A/G] NM_182908,NM_005794 DHRS2,DHRS2 EXON Missense_R55H,Missense_R55H exm1091360 14 24108449 [T/C] NM_182908,NM_005794 DHRS2,DHRS2 EXON Missense_R68W,Missense_R68W exm1091361 14 24108450 [A/G] NM_182908,NM_005794 DHRS2,DHRS2 EXON Missense_R68Q,Missense_R68Q exm1091384 14 24112389 [T/C] NM_182908,NM_005794 DHRS2,DHRS2 EXON Missense_A150V,Missense_A150V exm1091393 14 24113370 [T/C] NM_182908,NM_005794 DHRS2,DHRS2 EXON Missense_V180A,Missense_V180A exm1091395 14 24113619 [T/C] NM_182908,NM_005794 DHRS2,DHRS2 EXON Missense_A181V,Missense_A181V exm1091397 14 24113634 [A/G] NM_182908,NM_005794 DHRS2,DHRS2 EXON Missense_N186S,Missense_N186S exm1091398 14 24113649 [T/C] NM_182908,NM_005794 DHRS2,DHRS2 EXON Missense_A191V,Missense_A191V exm1091404 14 24113702 [T/C] NM_182908,NM_005794 DHRS2,DHRS2 EXON Missense_R209W,Missense_R209W exm1091405 14 24113728 [T/G] NM_182908,NM_005794 DHRS2,DHRS2 EXON Missense_I217M,Missense_I217M exm1091409 14 24114054 [T/C] NM_182908,NM_005794 DHRS2,DHRS2 EXON Synonymous_L235L,Missense_L232F exm1091418 14 24114420 [T/C] NM_182908,NM_005794 DHRS2,DHRS2 EXON Missense_T271M,Synonymous_N267N exm1091420 14 24114437 [T/A] NM_182908,NM_005794 DHRS2,DHRS2 EXON Missense_W277R,Missense_V273E exm1091424 14 24114455 [A/G] NM_182908,NM_005794 DHRS2,DHRS2 EXON Missense_G283S,Missense_R279Q exm1091427 14 24114476 [A/G] NM_182908,NM_005794 DHRS2,DHRS2 EXON Missense_G290S,Silent exm1091429 14 24114483 [T/C] NM_182908,NM_005794 DHRS2,DHRS2 EXON Missense_V292A,Silent exm-rs12436436 14 24381515 [T/C] exm2272153 14 24406918 [T/C] exm1091436 14 24423002 [A/G] NR_023921,NR_023922,NR_023923,NR_023924,NM_021004 DHRS4-AS1,DHRS4-AS1,DHRS4-AS1,DHRS4-AS1,DHRS4 EXON Silent,Silent,Silent,Silent,Missense_H2R exm1091437 14 24423007 [A/G] NR_023921,NR_023922,NR_023923,NR_023924,NM_021004 DHRS4-AS1,DHRS4-AS1,DHRS4-AS1,DHRS4-AS1,DHRS4 EXON Silent,Silent,Silent,Silent,Missense_A4T exm1091454 14 24424326 [T/C] NM_021004 DHRS4 EXON Nonsense_Q71X exm1091470 14 24429187 [A/C] NM_021004 DHRS4 EXON Missense_D128A exm1091472 14 24429196 [A/C] NM_021004 DHRS4 EXON Missense_E131A exm1091483 14 24435493 [A/G] NM_021004 DHRS4 EXON Missense_G178D exm1091485 14 24435542 [T/G] NM_021004 DHRS4 EXON Missense_K194N exm2222295 14 24435557 [T/G] NM_021004 DHRS4 EXON Missense_E199D exm2267634 14 24457130 [A/G] NM_001193636,NM_001193637,NM_001193635 DHRS4L2,DHRS4L2,DHRS4L2 Silent,Silent,Silent exm1091506 14 24458162 [G/C] NM_001193636,NM_001193637,NM_001193635,NM_198083 DHRS4L2,DHRS4L2,DHRS4L2,DHRS4L2 EXON Silent,Silent,Silent,Missense_Q2H exm1809446 14 24458201 [C/G] NM_001193636,NM_001193637,NM_001193635,NM_198083 DHRS4L2,DHRS4L2,DHRS4L2,DHRS4L2 EXON Silent,Silent,Silent,Missense_K15N exm1091511 14 24458211 [T/A] NM_001193636,NM_001193637,NM_001193635,NM_198083 DHRS4L2,DHRS4L2,DHRS4L2,DHRS4L2 EXON Silent,Silent,Silent,Missense_M19L exm1091560 14 24464325 [A/G] NM_001193636,NM_001193637,NM_001193635,NM_198083 DHRS4L2,DHRS4L2,DHRS4L2,DHRS4L2 EXON Missense_E30K,Missense_E30K,Silent,Missense_E131K exm1091610 14 24506975 [A/G] NM_001082488 DHRS4L1 EXON Missense_R51H exm1091619 14 24507114 [T/G] NM_001082488 DHRS4L1 EXON Missense_E97D exm1091620 14 24507116 [A/G] NM_001082488 DHRS4L1 EXON Missense_R98Q exm1091631 14 24511951 [A/G] NM_001082488 DHRS4L1 Silent exm1091638 14 24517401 [A/G] NM_001082488 DHRS4L1 EXON Missense_I152V exm1091670 14 24522938 [A/C] NM_138360 LRRC16B EXON Missense_S21R exm1091673 14 24522999 [A/C] NM_138360 LRRC16B EXON Missense_E41A exm2222299 14 24523482 [A/G] NM_138360 LRRC16B EXON Missense_R73H exm1091694 14 24524016 [T/C] NM_138360 LRRC16B EXON Synonymous_C153C exm1091706 14 24524988 [A/G] NM_138360 LRRC16B EXON Missense_G254R exm1091714 14 24526150 [A/G] NM_138360 LRRC16B EXON Missense_G327R exm1809513 14 24526405 [A/C] NM_138360 LRRC16B EXON Missense_N364K exm1091725 14 24526449 [A/G] NM_138360 LRRC16B EXON Missense_D379G exm1091739 14 24527189 [T/C] NM_138360 LRRC16B EXON Missense_P413L exm1091741 14 24527192 [T/C] NM_138360 LRRC16B EXON Missense_A414V exm1091742 14 24527198 [A/G] NM_138360 LRRC16B EXON Missense_K416R exm1091780 14 24529961 [A/G] NM_138360 LRRC16B EXON Missense_R729Q exm2251723 14 24530768 [T/C] NM_138360 LRRC16B EXON Synonymous_A789A exm1091794 14 24531931 [T/C] NM_138360 LRRC16B EXON Missense_T861I exm1091795 14 24531966 [G/C] NM_138360 LRRC16B EXON Missense_P873A exm1091805 14 24532357 [A/G] NM_138360 LRRC16B EXON Missense_R912H exm1091812 14 24533473 [T/C] NM_138360 LRRC16B EXON Missense_R1000C exm1091813 14 24533474 [A/G] NM_138360 LRRC16B EXON Missense_R1000H exm1091817 14 24533539 [A/C] NM_138360 LRRC16B EXON Missense_L1022M exm1091828 14 24534270 [T/C] NM_138360 LRRC16B EXON Missense_R1062W exm1091833 14 24534378 [A/C] NM_138360 LRRC16B EXON Missense_P1098T exm1091839 14 24534471 [T/C] NM_138360 LRRC16B EXON Missense_R1129C exm1091851 14 24534916 [T/G] NM_138360 LRRC16B EXON Missense_G1161V exm1091853 14 24535619 [A/G] NM_138360 LRRC16B EXON Missense_D1180N exm1091869 14 24538127 [T/C] NM_138360 LRRC16B EXON Missense_R1312W exm1091871 14 24538149 [A/G] NM_138360 LRRC16B EXON Missense_Q1319R exm1091879 14 24538438 [T/C] NM_138360 LRRC16B EXON Missense_R1359W exm1091887 14 24542708 [A/G] NM_006032 CPNE6 EXON Missense_V57I exm1091889 14 24542715 [A/G] NM_006032 CPNE6 EXON Missense_R59H exm1091898 14 24543503 [A/G] NM_006032 CPNE6 EXON Missense_V143M exm1091926 14 24545577 [A/G] NM_006032 CPNE6 EXON Missense_R356Q exm2222302 14 24546436 [T/G] NM_006032 CPNE6 EXON Missense_R458L exm1091955 14 24546811 [T/G] NM_006032 CPNE6 EXON Missense_S516A exm1091963 14 24550456 [A/G] NM_006177 NRL EXON Missense_L235F exm1091971 14 24551683 [G/C] NM_006177 NRL EXON Missense_H125Q exm1091974 14 24551745 [T/C] NM_006177 NRL EXON Missense_V105I exm1091981 14 24551871 [T/C] NM_006177 NRL EXON Missense_E63K exm1091992 14 24566139 [G/C] NM_001018073,NM_004563 PCK2,PCK2 EXON Nonsense_S23X,Nonsense_S23X exm1091996 14 24566204 [T/C] NM_001018073,NM_004563 PCK2,PCK2 EXON Nonsense_R45X,Nonsense_R45X exm1091998 14 24566261 [A/G] NM_001018073,NM_004563 PCK2,PCK2 EXON Missense_D64N,Missense_D64N exm1091999 14 24566268 [C/G] NM_001018073,NM_004563 PCK2,PCK2 EXON Missense_T66S,Missense_T66S exm1092004 14 24566344 [A/C] NM_001018073,NM_004563 PCK2,PCK2 EXON Missense_N91K,Missense_N91K exm1092010 14 24567498 [A/C] NM_001018073,NM_004563 PCK2,PCK2 EXON Missense_Q121P,Missense_Q121P exm1092017 14 24567686 [T/C] NM_001018073,NM_004563 PCK2,PCK2 EXON Missense_R155C,Missense_R155C exm1092022 14 24567809 [T/A] NM_001018073,NM_004563 PCK2,PCK2 EXON Missense_T196S,Missense_T196S exm1092023 14 24567867 [A/G] NM_001018073,NM_004563 PCK2,PCK2 EXON Missense_G215D,Missense_G215D exm1092028 14 24568317 [A/G] NM_001018073,NM_004563 PCK2,PCK2 EXON Missense_D242N,Missense_D242N exm1092029 14 24568323 [T/C] NM_001018073,NM_004563 PCK2,PCK2 EXON Missense_R244W,Missense_R244W exm1092038 14 24568392 [T/C] NM_001018073,NM_004563 PCK2,PCK2 EXON Missense_R267C,Missense_R267C exm1092039 14 24568395 [A/G] NM_001018073,NM_004563 PCK2,PCK2 EXON Missense_I268V,Missense_I268V exm1092049 14 24568855 [T/C] NM_001018073,NM_004563 PCK2,PCK2 EXON Missense_M314T,Missense_M314T exm1092057 14 24569267 [T/C] NM_001018073,NM_004563 PCK2,PCK2 EXON Missense_T360I,Missense_T360I exm1092062 14 24569404 [A/G] NM_001018073,NM_004563 PCK2,PCK2 EXON Missense_G406S,Missense_G406S exm1092064 14 24569423 [T/G] NM_001018073,NM_004563 PCK2,PCK2 EXON Missense_G412V,Silent exm1092067 14 24569476 [A/G] NM_001018073,NM_004563 PCK2,PCK2 EXON Missense_V430M,Silent exm1092072 14 24571994 [T/C] NM_004563 PCK2 EXON Nonsense_R423X exm1092076 14 24572049 [T/C] NM_004563 PCK2 EXON Missense_P441L exm1092077 14 24572367 [A/T] NM_004563 PCK2 Silent exm1809637 14 24572375 [T/C] NM_004563 PCK2 EXON Missense_P460L exm1092079 14 24572401 [T/C] NM_004563 PCK2 EXON Missense_R469C exm1092080 14 24572402 [A/G] NM_004563 PCK2 EXON Missense_R469H exm1092081 14 24572410 [A/G] NM_004563 PCK2 EXON Missense_V472M exm1092082 14 24572425 [A/G] NM_004563 PCK2 EXON Missense_A477T exm1092084 14 24572432 [A/G] NM_004563 PCK2 EXON Missense_R479H exm1092089 14 24572466 [T/C] NM_004563 PCK2 Silent exm1092099 14 24572796 [A/C] NM_004563 PCK2 EXON Missense_L516M exm1092102 14 24572812 [A/G] NM_004563 PCK2 EXON Missense_R521H exm1092108 14 24572929 [A/G] NM_004563 PCK2 EXON Missense_R560Q exm1092109 14 24572931 [T/C] NM_004563 PCK2 EXON Missense_R561W exm1092110 14 24572932 [A/G] NM_004563 PCK2 EXON Missense_R561Q exm1092115 14 24572991 [A/G] NM_004563 PCK2 EXON Missense_A581T exm1092116 14 24573006 [A/G] NM_004563 PCK2 EXON Missense_G586S exm1092122 14 24573135 [A/G] NM_004563 PCK2 EXON Missense_E629K exm1092123 14 24573151 [T/A] NM_004563 PCK2 EXON Missense_E634V exm1092124 14 24573156 [T/C] NM_004563 PCK2 EXON Missense_R636C exm1092142 14 24586496 [A/G] NM_001163484,NR_028099,NM_025230,NR_028100,NM_181357 DCAF11,DCAF11,DCAF11,DCAF11,DCAF11 EXON Missense_R102Q,Silent,Missense_R102Q,Silent,Missense_R76Q exm1092143 14 24586511 [A/G] NM_001163484,NR_028099,NM_025230,NR_028100,NM_181357 DCAF11,DCAF11,DCAF11,DCAF11,DCAF11 EXON Missense_N107S,Silent,Missense_N107S,Silent,Missense_N81S exm1092147 14 24586567 [A/G] NM_001163484,NR_028099,NM_025230,NR_028100,NM_181357 DCAF11,DCAF11,DCAF11,DCAF11,DCAF11 EXON Missense_A126T,Silent,Missense_A126T,Silent,Missense_A100T exm1092149 14 24586586 [T/C] NM_001163484,NR_028099,NM_025230,NR_028100,NM_181357 DCAF11,DCAF11,DCAF11,DCAF11,DCAF11 EXON Missense_P132L,Silent,Missense_P132L,Silent,Missense_P106L exm1092150 14 24586589 [A/G] NM_001163484,NR_028099,NM_025230,NR_028100,NM_181357 DCAF11,DCAF11,DCAF11,DCAF11,DCAF11 EXON Missense_R133Q,Silent,Missense_R133Q,Silent,Missense_R107Q exm1092160 14 24586929 [A/G] NM_001163484,NR_028099,NM_025230,NR_028100,NM_181357 DCAF11,DCAF11,DCAF11,DCAF11,DCAF11 EXON Missense_R155Q,Silent,Missense_R155Q,Silent,Missense_R129Q exm1092168 14 24587639 [A/G] NM_001163484,NR_028099,NM_025230,NR_028100,NM_181357 DCAF11,DCAF11,DCAF11,DCAF11,DCAF11 EXON Missense_R207H,Silent,Missense_R207H,Silent,Missense_R181H exm1092171 14 24587680 [A/G] NM_001163484,NR_028099,NM_025230,NR_028100,NM_181357 DCAF11,DCAF11,DCAF11,DCAF11,DCAF11 EXON Missense_V221I,Silent,Missense_V221I,Silent,Missense_V195I exm1092173 14 24587738 [A/C] NM_001163484,NR_028099,NM_025230,NR_028100,NM_181357 DCAF11,DCAF11,DCAF11,DCAF11,DCAF11 EXON Missense_D240A,Silent,Missense_D240A,Silent,Missense_D214A exm1092184 14 24588966 [T/C] NM_001163484,NR_028099,NM_025230,NR_028100,NM_181357 DCAF11,DCAF11,DCAF11,DCAF11,DCAF11 EXON Missense_I318T,Silent,Missense_I318T,Silent,Missense_I292T exm1092197 14 24590580 [A/G] NM_001163484,NR_028099,NM_025230,NR_028100,NM_181357 DCAF11,DCAF11,DCAF11,DCAF11,DCAF11 EXON Missense_R418Q,Silent,Missense_R418Q,Silent,Missense_R392Q exm1092205 14 24592185 [A/G] NM_001163484,NR_028099,NM_025230,NR_028100,NM_181357 DCAF11,DCAF11,DCAF11,DCAF11,DCAF11 EXON Missense_D469N,Silent,Missense_D469N,Silent,Missense_D443N exm1092212 14 24592413 [A/C] NM_001163484,NR_028099,NM_025230,NR_028100,NM_181357 DCAF11,DCAF11,DCAF11,DCAF11,DCAF11 EXON Nonsense_Y512X,Silent,Nonsense_Y512X,Silent,Nonsense_Y486X exm1092230 14 24600930 [A/G] NM_203402 FITM1 EXON Missense_R53Q exm1092231 14 24600933 [A/G] NM_203402 FITM1 EXON Missense_R54H exm1092233 14 24601002 [A/G] NM_203402 FITM1 EXON Missense_R77Q exm1092239 14 24601503 [A/G] NM_203402 FITM1 EXON Missense_R117H exm1092241 14 24601533 [A/G] NM_203402 FITM1 EXON Missense_R127Q exm1092244 14 24601560 [A/G] NM_203402 FITM1 EXON Missense_R136Q exm1092251 14 24601659 [A/G] NM_203402 FITM1 EXON Missense_R169H exm1809676 14 24601765 [A/C] NM_203402 FITM1 EXON Missense_F204L exm1092265 14 24602004 [A/G] NM_203402 FITM1 EXON Missense_R284H exm1092289 14 24606542 [A/G] NM_006263,NM_176783 PSME1,PSME1 EXON Missense_N50D,Missense_N50D exm1092290 14 24606543 [A/G] NM_006263,NM_176783 PSME1,PSME1 EXON Missense_N50S,Missense_N50S exm1092299 14 24606737 [G/C] NM_006263,NM_176783 PSME1,PSME1 EXON Missense_D85E,Missense_D85E exm2276313 14 24607451 [C/G] NM_006263,NM_176783 PSME1,PSME1 EXON Missense_G169A,Missense_G169A exm2222307 14 24607454 [T/C] NM_006263,NM_176783 PSME1,PSME1 EXON Missense_F170S,Missense_F170S exm1092324 14 24607804 [A/G] NM_006263,NM_176783 PSME1,PSME1 EXON Silent,Missense_R235K exm1092325 14 24607842 [A/G] NM_006263,NM_176783 PSME1,PSME1 EXON Silent,Missense_A248T exm1092327 14 24607954 [T/C] NM_006263,NM_176783 PSME1,PSME1 EXON Missense_Y227H,Silent exm1092328 14 24607966 [G/C] NM_006263,NM_176783 PSME1,PSME1 EXON Missense_L231V,Silent exm1092332 14 24608235 [T/C] NM_016049 EMC9 EXON Missense_G204E exm1092334 14 24608247 [T/C] NM_016049 EMC9 EXON Missense_G200D exm1092339 14 24608299 [A/G] NM_016049 EMC9 EXON Missense_R183W exm1092347 14 24608633 [A/G] NM_016049 EMC9 EXON Missense_R126C exm1092349 14 24608791 [T/C] NM_016049 EMC9 EXON Missense_R103Q exm1092355 14 24610171 [A/C] NM_016049 EMC9 EXON Missense_D68Y exm1092356 14 24610396 [A/C] NM_016049 EMC9 EXON Missense_C40G exm2222309 14 24610441 [T/C] NM_016049 EMC9 EXON Missense_A25T exm1092374 14 24613224 [T/C] NM_002818 PSME2 EXON Missense_R171H exm1809710 14 24613441 [T/C] NM_002818 PSME2 EXON Missense_V153I exm1092380 14 24613608 [C/G] NM_002818 PSME2 Silent exm1092389 14 24614634 [T/G] NM_002818 PSME2 EXON Missense_A62D exm1092390 14 24614637 [T/C] NM_002818 PSME2 EXON Missense_R61Q exm1092404 14 24617068 [T/C] NM_017999 RNF31 EXON Missense_A54V exm1092405 14 24617080 [A/G] NM_017999 RNF31 EXON Missense_R58H exm1092416 14 24617542 [A/G] NM_017999 RNF31 EXON Missense_E139K exm1092417 14 24617558 [A/C] NM_017999 RNF31 EXON Missense_H144P exm1092424 14 24618058 [A/G] NM_017999 RNF31 EXON Missense_G202S exm1092448 14 24619999 [T/C] NM_017999 RNF31 EXON Missense_R464C exm1092450 14 24620047 [T/C] NM_017999 RNF31 EXON Missense_R480C exm1092456 14 24620358 [T/G] NM_017999 RNF31 EXON Missense_A503S exm1092464 14 24620708 [T/G] NM_017999 RNF31 EXON Missense_Q584H exm1092469 14 24620821 [A/T] NM_017999 RNF31 EXON Missense_Q622L exm1092470 14 24621025 [A/G] NM_017999 RNF31 EXON Missense_A652T exm1092474 14 24621197 [A/G] NM_017999 RNF31 EXON Missense_N709S exm1092483 14 24624840 [A/C] NM_017999 RNF31 EXON Missense_E811A exm1092499 14 24627119 [T/C] NM_017999 RNF31 EXON Missense_P914S exm1092507 14 24629557 [T/G] NM_017999 RNF31 EXON Missense_V1036L exm1092510 14 24629744 [A/G] NM_017999 RNF31 EXON Missense_V1061I exm1092516 14 24631505 [A/G] NM_006084 IRF9 EXON Missense_R51Q exm1092523 14 24632352 [A/G] NM_006084 IRF9 EXON Missense_V120I exm1092524 14 24632603 [G/C] NM_006084 IRF9 EXON Missense_Q127H exm1092553 14 24635088 [G/C] NM_006084 IRF9 EXON Missense_P342A exm1092561 14 24641956 [T/C] NM_005132,NM_001048205 REC8,REC8 EXON Missense_R31C,Missense_R31C exm1092568 14 24642395 [T/C] NM_005132,NM_001048205 REC8,REC8 EXON Missense_M110T,Missense_M110T exm2222312 14 24646742 [T/C] NM_005132,NM_001048205 REC8,REC8 EXON Missense_L269P,Missense_L269P exm1092596 14 24647313 [T/C] NM_005132,NM_001048205 REC8,REC8 EXON Missense_P293L,Missense_P293L exm1092597 14 24647316 [G/C] NM_005132,NM_001048205 REC8,REC8 EXON Missense_P294R,Missense_P294R exm1092601 14 24647334 [T/G] NM_005132,NM_001048205 REC8,REC8 EXON Missense_R300L,Missense_R300L exm1092609 14 24647852 [T/C] NM_005132,NM_001048205 REC8,REC8 EXON Missense_A345V,Missense_A345V exm1809850 14 24649076 [T/C] NM_005132,NM_001048205 REC8,REC8 EXON Missense_R507C,Missense_R507C exm1092637 14 24649911 [T/G] NM_024658,NR_051979 IPO4,IPO4 EXON Missense_D1033E,Silent exm1092641 14 24649946 [C/G] NM_024658,NR_051979 IPO4,IPO4 EXON Missense_E1022Q,Silent exm1092650 14 24650990 [T/C] NM_024658,NR_051979 IPO4,IPO4 EXON Missense_R956H,Silent exm1092665 14 24651513 [T/C] NM_024658,NR_051979 IPO4,IPO4 EXON Missense_G857S,Silent exm1092676 14 24652265 [A/G] NM_024658,NR_051979 IPO4,IPO4 EXON Missense_R780C,Silent exm2222313 14 24652310 [A/G] NM_024658,NR_051979 IPO4,IPO4 EXON Missense_R765C,Silent exm1092681 14 24652323 [T/G] NM_024658,NR_051979 IPO4,IPO4 EXON Missense_N760K,Silent exm1092682 14 24652331 [T/C] NM_024658,NR_051979 IPO4,IPO4 EXON Missense_A758T,Silent exm1092684 14 24652354 [T/C] NM_024658,NR_051979 IPO4,IPO4 EXON Missense_R750Q,Silent exm1092715 14 24653523 [C/G] NM_024658,NR_051979 IPO4,IPO4 EXON Missense_P580A,Silent exm1092721 14 24653891 [T/C] NM_024658,NR_051979 IPO4,IPO4 EXON Missense_R534H,Silent exm1092726 14 24653954 [A/G] NM_024658,NR_051979 IPO4,IPO4 EXON Missense_A513V,Silent exm1092727 14 24653957 [T/C] NM_024658,NR_051979 IPO4,IPO4 EXON Missense_Q512R,Silent exm1092728 14 24653960 [G/C] NM_024658,NR_051979 IPO4,IPO4 EXON Missense_A511G,Silent exm1092734 14 24654115 [T/G] NM_024658,NR_051979 IPO4,IPO4 EXON Missense_P494T,Silent exm1809895 14 24654455 [C/G] NM_024658,NR_051979 IPO4,IPO4 EXON Missense_P448A,Silent exm1092745 14 24654492 [G/C] NM_024658,NR_051979 IPO4,IPO4 EXON Missense_E435D,Silent exm1092757 14 24655130 [T/C] NM_024658,NR_051979 IPO4,IPO4 EXON Missense_R369H,Silent exm1092784 14 24656649 [T/C] NM_024658,NR_051979 IPO4,IPO4 EXON Missense_R182H,Silent exm1092794 14 24656722 [A/G] NM_024658,NR_051979 IPO4,IPO4 EXON Missense_R158W,Silent exm1092799 14 24656890 [A/G] NM_024658,NR_051979 IPO4,IPO4 EXON Missense_H131Y,Silent exm1092816 14 24657936 [A/G] NM_024658,NR_051979 IPO4,IPO4 EXON Missense_R20C,Silent exm1092825 14 24658776 [A/G] NM_006405 TM9SF1 EXON Missense_R556W exm2251725 14 24658816 [A/G] NM_006405 TM9SF1 EXON Synonymous_T542T exm1092832 14 24659562 [A/T] NM_006405,NM_001014842 TM9SF1,TM9SF1 EXON Silent,Missense_L484Q exm1092836 14 24659733 [C/G] NM_006405,NM_001014842 TM9SF1,TM9SF1 EXON Missense_T427S,Missense_T427S exm1092837 14 24659755 [C/G] NM_006405,NM_001014842 TM9SF1,TM9SF1 EXON Missense_L420V,Missense_L420V exm1092846 14 24661529 [T/C] NM_006405,NM_001014842 TM9SF1,TM9SF1 EXON Missense_N334S,Missense_N334S exm1092861 14 24662160 [A/G] NM_006405,NM_001014842 TM9SF1,TM9SF1 EXON Missense_R221C,Missense_R221C exm1092863 14 24662174 [T/C] NM_006405,NM_001014842 TM9SF1,TM9SF1 EXON Missense_R216Q,Missense_R216Q exm1092864 14 24662175 [A/G] NM_006405,NM_001014842 TM9SF1,TM9SF1 EXON Missense_R216W,Missense_R216W exm1092865 14 24662177 [T/C] NM_006405,NM_001014842 TM9SF1,TM9SF1 EXON Missense_R215H,Missense_R215H exm1092870 14 24662241 [G/C] NM_006405,NM_001014842 TM9SF1,TM9SF1 EXON Missense_P194A,Missense_P194A exm1092874 14 24662277 [A/G] NM_006405,NM_001014842 TM9SF1,TM9SF1 EXON Missense_R182W,Missense_R182W exm1092875 14 24662296 [T/C] NM_006405,NM_001014842 TM9SF1,TM9SF1 EXON Missense_I175M,Missense_I175M exm1092898 14 24675233 [T/C] NM_174944,NM_001184739 TSSK4,TSSK4 EXON Missense_S35F,Missense_S35F exm1092901 14 24675755 [A/G] NM_174944,NM_001184739 TSSK4,TSSK4 EXON Missense_Y89C,Missense_Y89C exm1092903 14 24675781 [A/G] NM_174944,NM_001184739 TSSK4,TSSK4 EXON Missense_V98I,Missense_V98I exm1092904 14 24675797 [A/G] NM_174944,NM_001184739 TSSK4,TSSK4 EXON Missense_E103G,Missense_E103G exm1092907 14 24675836 [A/G] NM_174944,NM_001184739 TSSK4,TSSK4 EXON Missense_R116H,Missense_R116H exm1092911 14 24675922 [A/G] NM_174944,NM_001184739 TSSK4,TSSK4 EXON Missense_V145M,Missense_V145M exm1092912 14 24675928 [T/C] NM_174944,NM_001184739 TSSK4,TSSK4 EXON Missense_R147W,Missense_R147C exm1092914 14 24676368 [A/C] NM_174944,NM_001184739 TSSK4,TSSK4 EXON Missense_N153H,Missense_N163H exm1092917 14 24676498 [A/G] NM_174944,NM_001184739 TSSK4,TSSK4 EXON Missense_Q196R,Missense_Q206R exm1092920 14 24676558 [A/G] NM_174944,NM_001184739 TSSK4,TSSK4 EXON Missense_N216S,Missense_N226S exm1092927 14 24677312 [A/C] NM_174944,NM_001184739 TSSK4,TSSK4 EXON Missense_N316T,Missense_N326T exm1092934 14 24679139 [A/G] NM_014169 CHMP4A EXON Missense_P248S exm1092938 14 24679637 [T/C] NM_014169 CHMP4A EXON Missense_E219G exm1092940 14 24679877 [T/C] NM_014169 CHMP4A EXON Missense_G196R exm1092941 14 24679891 [T/C] NM_014169 CHMP4A EXON Missense_R191Q exm1092944 14 24679928 [A/G] NM_014169 CHMP4A EXON Nonsense_Q179X exm1092956 14 24680670 [A/G] NM_014169 CHMP4A EXON Missense_R147C exm2251726 14 24680737 [A/C] NM_014169 CHMP4A EXON Synonymous_G124G exm2276314 14 24681025 [A/C] NM_014169 CHMP4A EXON Missense_E57D exm1092969 14 24682614 [C/G] NM_014169 CHMP4A Silent exm1092980 14 24682767 [T/C] NM_014169 CHMP4A EXON Missense_R3Q exm1092981 14 24682774 [A/T] NM_014169 CHMP4A EXON Missense_M1L exm1092987 14 24683304 [A/C] NM_001199823,NM_138476,NM_001199821,NM_001199822 NEDD8-MDP1,MDP1,MDP1,MDP1 EXON Missense_G170W,Missense_G153W,Missense_R106M,Silent exm1092993 14 24683601 [C/G] NM_001199823,NM_138476,NM_001199821,NM_001199822 NEDD8-MDP1,MDP1,MDP1,MDP1 EXON Missense_R123S,Missense_R106S,Silent,Missense_R106S exm1092997 14 24683737 [T/C] NM_001199823,NM_138476,NM_001199821,NM_001199822 NEDD8-MDP1,MDP1,MDP1,MDP1 EXON Missense_R110Q,Missense_R93Q,Silent,Missense_R93Q exm1092999 14 24684777 [A/G] NM_001199823,NM_138476,NM_001199821,NM_001199822 NEDD8-MDP1,MDP1,MDP1,MDP1 EXON Missense_P81S,Missense_P64S,Missense_P64S,Missense_P64S exm1093029 14 24702413 [A/C] NM_001002001,NM_001002000,NM_016576,NM_001002002 GMPR2,GMPR2,GMPR2,GMPR2 EXON Silent,Silent,Missense_S3Y,Silent exm1093031 14 24702728 [T/C] NM_001002001,NM_001002000,NM_016576,NM_001002002 GMPR2,GMPR2,GMPR2,GMPR2 EXON Missense_T44I,Missense_T44I,Missense_T62I,Missense_T44I exm1093032 14 24702776 [T/C] NM_001002001,NM_001002000,NM_016576,NM_001002002 GMPR2,GMPR2,GMPR2,GMPR2 EXON Missense_T60I,Missense_T60I,Missense_T78I,Missense_T60I exm1093039 14 24705004 [T/G] NM_001002001,NM_001002000,NM_016576,NM_001002002 GMPR2,GMPR2,GMPR2,GMPR2 EXON Missense_G90V,Missense_G90V,Missense_G108V,Missense_G90V exm1093040 14 24705255 [A/C] NM_001002001,NM_001002000,NM_016576,NM_001002002 GMPR2,GMPR2,GMPR2,GMPR2 EXON Missense_Y125S,Missense_Y125S,Missense_Y143S,Missense_Y125S exm1093053 14 24706742 [T/G] NM_001002001,NM_001002000,NM_016576,NM_001002002 GMPR2,GMPR2,GMPR2,GMPR2 EXON Missense_C224F,Missense_C224F,Missense_C242F,Missense_C224F exm1093056 14 24707479 [A/G] NM_001002001,NM_001002000,NM_016576,NM_001002002 GMPR2,GMPR2,GMPR2,GMPR2 EXON Missense_G242D,Missense_G242D,Missense_G260D,Missense_G242D exm1093065 14 24707845 [A/G] NM_001002001,NM_001002000,NM_016576,NM_001002002 GMPR2,GMPR2,GMPR2,GMPR2 EXON Missense_H303R,Missense_H303R,Missense_H321R,Missense_H303R exm1093067 14 24707862 [G/C] NM_001002001,NM_001002000,NM_016576,NM_001002002 GMPR2,GMPR2,GMPR2,GMPR2 EXON Missense_L309V,Missense_L309V,Missense_L327V,Missense_L309V exm1093070 14 24707919 [A/G] NM_001002001,NM_001002000,NM_016576,NM_001002002 GMPR2,GMPR2,GMPR2,GMPR2 EXON Missense_S328G,Missense_S328G,Missense_S346G,Missense_S328G exm1093085 14 24709325 [A/G] NM_012461,NM_001099274 TINF2,TINF2 EXON Silent,Missense_I389T exm1093086 14 24709340 [T/C] NM_012461,NM_001099274 TINF2,TINF2 EXON Silent,Missense_S384N exm1093096 14 24709656 [A/G] NM_012461,NM_001099274 TINF2,TINF2 EXON Missense_P344S,Missense_P344S exm1093098 14 24709750 [T/G] NM_012461,NM_001099274 TINF2,TINF2 EXON Nonsense_Y312X,Nonsense_Y312X exm1093102 14 24709845 [T/C] NM_012461,NM_001099274 TINF2,TINF2 EXON Missense_E281K,Missense_E281K exm1093107 14 24709952 [T/G] NM_012461,NM_001099274 TINF2,TINF2 EXON Missense_S245Y,Missense_S245Y exm1093123 14 24710921 [T/C] NM_012461,NM_001099274 TINF2,TINF2 EXON Missense_Q120R,Missense_Q120R exm2222315 14 24711140 [G/C] NM_012461,NM_001099274 TINF2,TINF2 EXON Missense_H85D,Missense_H85D exm1093142 14 24718568 [A/T] NM_000359 TGM1 EXON Missense_D802V exm1093147 14 24718709 [A/G] NM_000359 TGM1 EXON Missense_S755L exm1093149 14 24718715 [T/C] NM_000359 TGM1 EXON Missense_R753H exm1093150 14 24723362 [T/C] NM_000359 TGM1 EXON Missense_V741I exm1093153 14 24723410 [T/C] NM_000359 TGM1 EXON Missense_V725I exm2251727 14 24723992 [T/G] NM_000359 TGM1 EXON Synonymous_R656R exm1093168 14 24723992 [T/G] NM_000359 TGM1 EXON Synonymous_R656R exm1093170 14 24724025 [A/G] NM_000359 TGM1 EXON Missense_R645C exm1093171 14 24724027 [T/C] NM_000359 TGM1 EXON Missense_D644G exm1093176 14 24724286 [A/G] NM_000359 TGM1 EXON Missense_R607C exm1093180 14 24724343 [T/C] NM_000359 TGM1 EXON Missense_A588T exm1093183 14 24724378 [A/G] NM_000359 TGM1 EXON Missense_A576V exm1093191 14 24724656 [T/C] NM_000359 TGM1 EXON Missense_E520G exm1093192 14 24724663 [T/C] NM_000359 TGM1 EXON Missense_V518M exm1093195 14 24724696 [A/G] NM_000359 TGM1 EXON Missense_R507W exm1093213 14 24728326 [T/C] NM_000359 TGM1 EXON Missense_V372I exm1093217 14 24728365 [T/C] NM_000359 TGM1 EXON Missense_V359M exm1093222 14 24728950 [A/C] NM_000359 TGM1 EXON Missense_R315L exm1810056 14 24728971 [T/C] NM_000359 TGM1 EXON Missense_R308Q exm1093223 14 24728974 [T/C] NM_000359 TGM1 EXON Missense_R307Q exm1093226 14 24729019 [T/C] NM_000359 TGM1 Silent exm1093228 14 24729144 [A/G] NM_000359 TGM1 Silent exm1093237 14 24729694 [T/C] NM_000359 TGM1 EXON Missense_R240H exm1093247 14 24729834 [T/C] NM_000359 TGM1 EXON Nonsense_W193X exm1093249 14 24729863 [A/G] NM_000359 TGM1 EXON Missense_P184S exm1810068 14 24730946 [A/G] NM_000359 TGM1 EXON Missense_R155W exm1093265 14 24731015 [T/C] NM_000359 TGM1 EXON Missense_D132N exm1810071 14 24731026 [T/C] NM_000359 TGM1 EXON Missense_E128G exm1093268 14 24731044 [A/G] NM_000359 TGM1 EXON Missense_S122L exm1093269 14 24731048 [A/G] NM_000359 TGM1 EXON Missense_R121C exm1093276 14 24731278 [T/C] NM_000359 TGM1 EXON Missense_G94D exm1093283 14 24731314 [A/G] NM_000359 TGM1 EXON Missense_S82F exm1093291 14 24731392 [A/G] NM_000359 TGM1 EXON Missense_A56V exm1093297 14 24731434 [T/G] NM_000359 TGM1 EXON Missense_S42Y exm1093298 14 24731453 [T/G] NM_000359 TGM1 EXON Missense_R36S exm1093300 14 24731462 [T/C] NM_000359 TGM1 EXON Missense_G33R exm1093302 14 24731494 [A/G] NM_000359 TGM1 EXON Missense_T22M exm1093304 14 24731498 [T/C] NM_000359 TGM1 EXON Missense_T21A exm1093330 14 24736961 [T/C] NM_004581,NM_182836 RABGGTA,RABGGTA EXON Missense_T420A,Missense_T420A exm1093337 14 24737596 [A/G] NM_004581,NM_182836 RABGGTA,RABGGTA EXON Missense_T346M,Missense_T346M exm1093338 14 24737605 [T/C] NM_004581,NM_182836 RABGGTA,RABGGTA EXON Missense_R343Q,Missense_R343Q exm1093339 14 24737615 [T/C] NM_004581,NM_182836 RABGGTA,RABGGTA EXON Missense_G340S,Missense_G340S exm1093347 14 24737786 [G/C] NM_004581,NM_182836 RABGGTA,RABGGTA EXON Missense_P314A,Missense_P314A exm1093357 14 24738193 [A/G] NM_004581,NM_182836 RABGGTA,RABGGTA EXON Missense_P241L,Missense_P241L exm1093359 14 24738330 [T/C] NM_004581,NM_182836 RABGGTA,RABGGTA EXON Missense_N224S,Missense_N224S exm1093365 14 24738826 [T/C] NM_004581,NM_182836 RABGGTA,RABGGTA EXON Missense_D168N,Missense_D168N exm1093368 14 24738856 [T/C] NM_004581,NM_182836 RABGGTA,RABGGTA EXON Missense_V158M,Missense_V158M exm1810108 14 24738885 [T/A] NM_004581,NM_182836 RABGGTA,RABGGTA EXON Missense_Y148F,Missense_Y148F exm1093383 14 24740054 [T/C] NM_004581,NM_182836 RABGGTA,RABGGTA EXON Missense_V35I,Missense_V35I exm1093398 14 24760198 [T/C] NM_001136050,NM_138452 DHRS1,DHRS1 EXON Missense_R270H,Missense_R270H exm1093399 14 24760346 [A/G] NM_001136050,NM_138452 DHRS1,DHRS1 EXON Synonymous_D268D,Synonymous_D268D exm1093406 14 24760764 [A/G] NM_001136050,NM_138452 DHRS1,DHRS1 EXON Missense_T241I,Missense_T241I exm1093416 14 24761437 [T/C] NM_001136050,NM_138452 DHRS1,DHRS1 EXON Missense_E203K,Missense_E203K exm1093420 14 24761467 [T/G] NM_001136050,NM_138452 DHRS1,DHRS1 EXON Missense_P193T,Missense_P193T exm1093422 14 24761491 [T/C] NM_001136050,NM_138452 DHRS1,DHRS1 EXON Missense_G185R,Missense_G185R exm1093438 14 24766000 [G/C] NM_001136050,NM_138452 DHRS1,DHRS1 EXON Missense_R80G,Missense_R80G exm1093439 14 24766023 [T/C] NM_001136050,NM_138452 DHRS1,DHRS1 EXON Missense_R72Q,Missense_R72Q exm1810149 14 24768291 [A/G] NM_001136050,NM_138452 DHRS1,DHRS1 EXON Nonsense_Q8X,Nonsense_Q8X exm1093446 14 24768296 [T/C] NM_001136050,NM_138452 DHRS1,DHRS1 EXON Missense_N6S,Missense_N6S exm1810150 14 24768299 [A/G] NM_001136050,NM_138452 DHRS1,DHRS1 EXON Missense_M5T,Missense_M5T exm1093449 14 24769180 [T/C] NM_174913 NOP9 EXON Missense_S7F exm1093460 14 24769625 [T/C] NM_174913 NOP9 EXON Missense_H87Y exm1093469 14 24769809 [A/G] NM_174913 NOP9 EXON Missense_S148N exm1093476 14 24769876 [T/G] NM_174913 NOP9 EXON Missense_D170E exm1093478 14 24769893 [T/C] NM_174913 NOP9 EXON Missense_T176M exm1093481 14 24769962 [A/G] NM_174913 NOP9 EXON Missense_G199E exm1093483 14 24769985 [T/G] NM_174913 NOP9 EXON Missense_V207F exm1810159 14 24769991 [A/T] NM_174913 NOP9 EXON Missense_T209S exm1093486 14 24770039 [A/T] NM_174913 NOP9 EXON Missense_R225W exm1093488 14 24770062 [T/G] NM_174913 NOP9 EXON Synonymous_S232S exm1093490 14 24770875 [C/G] NM_174913 NOP9 EXON Missense_T252S exm1093498 14 24771285 [A/G] NM_174913 NOP9 EXON Missense_S308N exm1093501 14 24771293 [A/G] NM_174913 NOP9 EXON Missense_G311S exm1093511 14 24771514 [A/G] NM_174913 NOP9 EXON Missense_R343G exm1093513 14 24771551 [A/G] NM_174913 NOP9 EXON Missense_Q355R exm1093516 14 24771599 [A/G] NM_174913 NOP9 EXON Missense_R371H exm1093518 14 24771613 [A/G] NM_174913 NOP9 EXON Missense_V376I exm1093523 14 24772373 [T/C] NM_174913 NOP9 EXON Missense_R413C exm1093525 14 24772409 [T/C] NM_174913 NOP9 EXON Missense_L425F exm1093533 14 24773309 [C/G] NM_174913 NOP9 EXON Missense_Q491H exm1093549 14 24773457 [T/C] NM_174913 NOP9 EXON Missense_R541C exm1093556 14 24774224 [T/C] NM_174913 NOP9 EXON Missense_R612W exm1093569 14 24774961 [A/G] NM_014430 CIDEB EXON Missense_R180C exm1093571 14 24775152 [T/C] NM_014430 CIDEB Silent exm1093578 14 24775268 [A/C] NM_014430 CIDEB EXON Missense_V138L exm1093580 14 24775286 [T/C] NM_014430 CIDEB EXON Missense_A132T exm1093584 14 24775316 [A/G] NM_014430 CIDEB EXON Missense_R122W exm1093585 14 24775345 [T/C] NM_014430 CIDEB Silent exm1093591 14 24775579 [T/C] NM_014430 CIDEB Silent exm1093594 14 24775588 [T/G] NM_014430 CIDEB EXON Missense_P110T exm1093596 14 24775626 [A/G] NM_014430 CIDEB EXON Missense_T97M exm1093606 14 24776591 [T/C] NM_014430 CIDEB EXON Missense_E58K exm1093612 14 24776654 [T/G] NM_014430 CIDEB EXON Missense_P37T exm1093615 14 24776690 [A/G] NM_014430 CIDEB EXON Missense_R25W exm1093618 14 24776721 [T/C] NM_014430 CIDEB EXON Synonymous_R14R exm1093627 14 24779805 [A/G] NM_014430,NM_001164692,NM_019839 CIDEB,LTB4R2,LTB4R2 EXON Silent,Silent,Silent exm1093644 14 24780216 [A/G] NM_014430,NM_001164692,NM_019839 CIDEB,LTB4R2,LTB4R2 EXON Silent,Missense_S116G,Missense_S116G exm1093671 14 24780702 [T/G] NM_001164692,NM_019839 LTB4R2,LTB4R2 EXON Missense_F278V,Missense_F278V exm1093672 14 24780703 [T/C] NM_001164692,NM_019839 LTB4R2,LTB4R2 EXON Missense_F278S,Missense_F278S exm1093675 14 24780751 [A/G] NM_001164692,NM_019839,NM_001143919 LTB4R2,LTB4R2,LTB4R EXON Missense_D294G,Missense_D294G,Silent exm1093678 14 24780786 [T/C] NM_001164692,NM_019839,NM_001143919 LTB4R2,LTB4R2,LTB4R EXON Missense_R306W,Missense_R306W,Silent exm1093683 14 24780865 [A/G] NM_001164692,NM_019839,NM_001143919 LTB4R2,LTB4R2,LTB4R EXON Missense_Q332R,Missense_Q332R,Silent exm2222324 14 24780906 [C/G] NM_001164692,NM_019839,NM_001143919 LTB4R2,LTB4R2,LTB4R EXON Missense_G346R,Missense_G346R,Silent exm1093686 14 24780915 [T/A] NM_001164692,NM_019839,NM_001143919 LTB4R2,LTB4R2,LTB4R EXON Missense_M349L,Missense_M349L,Silent exm1093687 14 24780918 [G/C] NM_001164692,NM_019839,NM_001143919 LTB4R2,LTB4R2,LTB4R EXON Missense_E350Q,Missense_E350Q,Silent exm1093705 14 24785092 [T/G] NM_001143919,NM_181657 LTB4R,LTB4R EXON Missense_A79S,Missense_A79S exm1093708 14 24785191 [A/G] NM_001143919,NM_181657 LTB4R,LTB4R EXON Missense_S112G,Missense_S112G exm1093721 14 24785635 [C/G] NM_001143919,NM_181657 LTB4R,LTB4R EXON Missense_G260R,Missense_G260R exm1093732 14 24785884 [T/G] NM_001143919,NM_181657 LTB4R,LTB4R EXON Missense_S343A,Missense_S343A exm1093750 14 24788316 [A/G] NM_001198568,NM_001198592,NM_139247 ADCY4,ADCY4,ADCY4 EXON Missense_R982C,Missense_R982C,Missense_R982C exm1093752 14 24788358 [A/T] NM_001198568,NM_001198592,NM_139247 ADCY4,ADCY4,ADCY4 EXON Missense_S968T,Missense_S968T,Missense_S968T exm1093756 14 24788384 [A/G] NM_001198568,NM_001198592,NM_139247 ADCY4,ADCY4,ADCY4 EXON Missense_M959T,Missense_M959T,Missense_M959T exm1093758 14 24788408 [T/C] NM_001198568,NM_001198592,NM_139247 ADCY4,ADCY4,ADCY4 EXON Missense_R951Q,Missense_R951Q,Missense_R951Q exm1093759 14 24788409 [A/G] NM_001198568,NM_001198592,NM_139247 ADCY4,ADCY4,ADCY4 EXON Missense_R951W,Missense_R951W,Missense_R951W exm1093763 14 24788594 [T/C] NM_001198568,NM_001198592,NM_139247 ADCY4,ADCY4,ADCY4 EXON Missense_G928S,Missense_G928S,Missense_G928S exm1093770 14 24789043 [A/G] NM_001198568,NM_001198592,NM_139247 ADCY4,ADCY4,ADCY4 EXON Missense_P880S,Missense_P880S,Missense_P880S exm1093782 14 24791360 [A/G] NM_001198568,NM_001198592,NM_139247 ADCY4,ADCY4,ADCY4 EXON Missense_T833M,Missense_T833M,Missense_T833M exm1093788 14 24791910 [T/C] NM_001198568,NM_001198592,NM_139247 ADCY4,ADCY4,ADCY4 EXON Missense_G783R,Missense_G783R,Missense_G783R exm1093790 14 24792122 [A/G] NM_001198568,NM_001198592,NM_139247 ADCY4,ADCY4,ADCY4 EXON Missense_P777L,Missense_P777L,Missense_P777L exm1093791 14 24792132 [A/G] NM_001198568,NM_001198592,NM_139247 ADCY4,ADCY4,ADCY4 EXON Missense_Y774H,Missense_Y774H,Missense_Y774H exm1093793 14 24792138 [A/G] NM_001198568,NM_001198592,NM_139247 ADCY4,ADCY4,ADCY4 EXON Missense_R772C,Missense_R772C,Missense_R772C exm1093798 14 24792197 [G/C] NM_001198568,NM_001198592,NM_139247 ADCY4,ADCY4,ADCY4 EXON Missense_A752G,Missense_A752G,Missense_A752G exm1093805 14 24793339 [A/G] NM_001198568,NM_001198592,NM_139247 ADCY4,ADCY4,ADCY4 EXON Nonsense_R659X,Nonsense_R659X,Nonsense_R659X exm1093820 14 24794677 [A/G] NM_001198568,NM_001198592,NM_139247 ADCY4,ADCY4,ADCY4 EXON Nonsense_R577X,Nonsense_R577X,Nonsense_R577X exm1093835 14 24798267 [T/C] NM_001198568,NM_001198592,NM_139247 ADCY4,ADCY4,ADCY4 EXON Synonymous_P508P,Synonymous_P508P,Synonymous_P508P exm1093838 14 24798284 [T/G] NM_001198568,NM_001198592,NM_139247 ADCY4,ADCY4,ADCY4 EXON Missense_T503P,Missense_T503P,Missense_T503P exm1093844 14 24798433 [T/A] NM_001198568,NM_001198592,NM_139247 ADCY4,ADCY4,ADCY4 EXON Missense_E453V,Missense_E453V,Missense_E453V exm1093850 14 24798663 [A/G] NM_001198568,NM_001198592,NM_139247 ADCY4,ADCY4,ADCY4 EXON Missense_R432W,Missense_R432W,Missense_R432W exm1093852 14 24798738 [A/G] NM_001198568,NM_001198592,NM_139247 ADCY4,ADCY4,ADCY4 EXON Nonsense_R407X,Nonsense_R407X,Nonsense_R407X exm1093859 14 24799164 [T/G] NM_001198568,NM_001198592,NM_139247 ADCY4,ADCY4,ADCY4 EXON Missense_S373R,Missense_S373R,Missense_S373R exm1093866 14 24799404 [T/C] NM_001198568,NM_001198592,NM_139247 ADCY4,ADCY4,ADCY4 EXON Missense_R343H,Missense_R343H,Missense_R343H exm1093867 14 24799405 [A/G] NM_001198568,NM_001198592,NM_139247 ADCY4,ADCY4,ADCY4 EXON Missense_R343C,Missense_R343C,Missense_R343C exm1093875 14 24800334 [T/C] NM_001198568,NM_001198592,NM_139247 ADCY4,ADCY4,ADCY4 EXON Missense_V274M,Missense_V274M,Missense_V274M exm2274681 14 24800500 [T/C] NM_001198568,NM_001198592,NM_139247 ADCY4,ADCY4,ADCY4 EXON Missense_M244I,Missense_M244I,Missense_M244I exm1093885 14 24800501 [T/A] NM_001198568,NM_001198592,NM_139247 ADCY4,ADCY4,ADCY4 EXON Missense_M244K,Missense_M244K,Missense_M244K exm1093909 14 24802187 [G/C] NM_001198568,NM_001198592,NM_139247 ADCY4,ADCY4,ADCY4 EXON Missense_T56S,Missense_T56S,Missense_T56S exm1093911 14 24803698 [A/C] NM_001198568,NM_001198592,NM_139247 ADCY4,ADCY4,ADCY4 Silent,Silent,Silent exm1093924 14 24805463 [T/G] NM_006871 RIPK3 EXON Missense_P492Q exm1810295 14 24805599 [A/G] NM_006871 RIPK3 EXON Nonsense_R447X exm1093935 14 24806303 [A/G] NM_006871 RIPK3 EXON Nonsense_R422X exm1093940 14 24806433 [G/C] NM_006871 RIPK3 EXON Missense_Q378H exm1810304 14 24806525 [A/G] NM_006871 RIPK3 EXON Missense_W348R exm1093957 14 24806902 [A/G] NM_006871 RIPK3 EXON Missense_T300M exm1093959 14 24807108 [T/C] NM_006871 RIPK3 EXON Missense_S268N exm1093960 14 24807132 [A/T] NM_006871 RIPK3 EXON Missense_E260V exm1093963 14 24807195 [T/C] NM_006871 RIPK3 EXON Missense_R239Q exm1093974 14 24807635 [T/C] NM_006871 RIPK3 EXON Missense_V204I exm1093985 14 24808325 [A/C] NM_006871 RIPK3 EXON Nonsense_E123X exm1093993 14 24808665 [A/G] NM_006871 RIPK3 EXON Synonymous_N53N exm2251729 14 24808665 [A/G] NM_006871 RIPK3 EXON Synonymous_N53N exm1094001 14 24808789 [G/C] NM_006871 RIPK3 EXON Missense_P12R exm-rs1950500 14 24830850 [T/C] exm1094016 14 24837629 [C/G] NM_001136022,NM_001198967,NM_001198965,NM_004554 NFATC4,NFATC4,NFATC4,NFATC4 EXON Missense_A91G,Missense_A91G,Missense_A28G,Missense_A28G exm2251730 14 24838928 [T/C] NM_001136022,NM_001198967,NM_001198965,NM_004554,NM_001198966 NFATC4,NFATC4,NFATC4,NFATC4,NFATC4 EXON Synonymous_G171G,Synonymous_G171G,Synonymous_G108G,Synonymous_G108G,Synonymous_G38G exm1094029 14 24838935 [T/C] NM_001136022,NM_001198967,NM_001198965,NM_004554,NM_001198966 NFATC4,NFATC4,NFATC4,NFATC4,NFATC4 EXON Missense_L174F,Missense_L174F,Missense_L111F,Missense_L111F,Missense_L41F exm1094032 14 24838993 [T/C] NM_001136022,NM_001198967,NM_001198965,NM_004554,NM_001198966 NFATC4,NFATC4,NFATC4,NFATC4,NFATC4 EXON Missense_A193V,Missense_A193V,Missense_A130V,Missense_A130V,Missense_A60V exm1094046 14 24839271 [T/C] NM_001136022,NM_001198967,NM_001198965,NM_004554,NM_001198966 NFATC4,NFATC4,NFATC4,NFATC4,NFATC4 EXON Missense_R286W,Missense_R286W,Missense_R223W,Missense_R223W,Missense_R153W exm1094061 14 24839569 [T/C] NM_001136022,NM_001198967,NM_001198965,NM_004554,NM_001198966 NFATC4,NFATC4,NFATC4,NFATC4,NFATC4 EXON Missense_P385L,Missense_P385L,Missense_P322L,Missense_P322L,Missense_P252L exm1094062 14 24839612 [T/G] NM_001136022,NM_001198967,NM_001198965,NM_004554,NM_001198966 NFATC4,NFATC4,NFATC4,NFATC4,NFATC4 EXON Missense_E399D,Missense_E399D,Missense_E336D,Missense_E336D,Missense_E266D exm1094064 14 24839639 [C/G] NM_001136022,NM_001198967,NM_001198965,NM_004554,NM_001198966 NFATC4,NFATC4,NFATC4,NFATC4,NFATC4 EXON Missense_E408D,Missense_E408D,Missense_E345D,Missense_E345D,Missense_E275D exm1094068 14 24839757 [A/G] NM_001136022,NM_001198967,NM_001198965,NM_004554,NM_001198966 NFATC4,NFATC4,NFATC4,NFATC4,NFATC4 EXON Missense_A448T,Missense_A448T,Missense_A385T,Missense_A385T,Missense_A315T exm1094074 14 24841717 [A/G] NM_001136022,NM_001198967,NM_001198965,NM_004554,NM_001198966 NFATC4,NFATC4,NFATC4,NFATC4,NFATC4 EXON Missense_V486I,Missense_V486I,Missense_V423I,Missense_V423I,Missense_V353I exm1094075 14 24841801 [A/G] NM_001136022,NM_001198967,NM_001198965,NM_004554,NM_001198966 NFATC4,NFATC4,NFATC4,NFATC4,NFATC4 EXON Missense_V514I,Missense_V514I,Missense_V451I,Missense_V451I,Missense_V381I exm1094078 14 24842498 [T/C] NM_001136022,NM_001198967,NM_001198965,NM_004554,NM_001198966 NFATC4,NFATC4,NFATC4,NFATC4,NFATC4 EXON Missense_T557M,Missense_T557M,Missense_T494M,Missense_T494M,Missense_T424M exm1810348 14 24842563 [A/C] NM_001136022,NM_001198967,NM_001198965,NM_004554,NM_001198966 NFATC4,NFATC4,NFATC4,NFATC4,NFATC4 EXON Missense_N579H,Missense_N579H,Missense_N516H,Missense_N516H,Missense_N446H exm1094083 14 24842963 [T/C] NM_001136022,NM_001198967,NM_001198965,NM_004554,NM_001198966 NFATC4,NFATC4,NFATC4,NFATC4,NFATC4 EXON Missense_T604M,Missense_T604M,Missense_T541M,Missense_T541M,Missense_T471M exm1094088 14 24843603 [A/G] NM_001136022,NM_001198967,NM_001198965,NM_004554,NM_001198966 NFATC4,NFATC4,NFATC4,NFATC4,NFATC4 EXON Missense_E665K,Missense_E665K,Missense_E602K,Missense_E602K,Missense_E532K exm1094092 14 24843658 [T/C] NM_001136022,NM_001198967,NM_001198965,NM_004554,NM_001198966 NFATC4,NFATC4,NFATC4,NFATC4,NFATC4 EXON Missense_I683T,Missense_I683T,Missense_I620T,Missense_I620T,Missense_I550T exm1094099 14 24845185 [T/C] NM_001136022,NM_001198967,NM_001198965,NM_004554,NM_001198966 NFATC4,NFATC4,NFATC4,NFATC4,NFATC4 EXON Missense_T708M,Missense_T708M,Missense_T645M,Missense_T645M,Missense_T575M exm1094105 14 24845523 [T/C] NM_001136022,NM_001198967,NM_001198965,NM_004554,NM_001198966 NFATC4,NFATC4,NFATC4,NFATC4,NFATC4 EXON Missense_P757S,Missense_P757S,Missense_P694S,Missense_P694S,Missense_P624S exm1094107 14 24845538 [T/C] NM_001136022,NM_001198967,NM_001198965,NM_004554,NM_001198966 NFATC4,NFATC4,NFATC4,NFATC4,NFATC4 EXON Missense_R762W,Missense_R762W,Missense_R699W,Missense_R699W,Missense_R629W exm1094109 14 24845584 [A/G] NM_001136022,NM_001198967,NM_001198965,NM_004554,NM_001198966 NFATC4,NFATC4,NFATC4,NFATC4,NFATC4 EXON Missense_D777G,Missense_D777G,Missense_D714G,Missense_D714G,Missense_D644G exm1810369 14 24845666 [A/C] NM_001136022,NM_001198967,NM_001198965,NM_004554,NM_001198966 NFATC4,NFATC4,NFATC4,NFATC4,NFATC4 EXON Missense_F804L,Missense_F804L,Missense_F741L,Missense_F741L,Missense_F671L exm1094114 14 24845667 [A/G] NM_001136022,NM_001198967,NM_001198965,NM_004554,NM_001198966 NFATC4,NFATC4,NFATC4,NFATC4,NFATC4 EXON Missense_G805S,Missense_G805S,Missense_G742S,Missense_G742S,Missense_G672S exm1094115 14 24845686 [T/C] NM_001136022,NM_001198967,NM_001198965,NM_004554,NM_001198966 NFATC4,NFATC4,NFATC4,NFATC4,NFATC4 EXON Missense_L811P,Missense_L811P,Missense_L748P,Missense_L748P,Missense_L678P exm1094121 14 24845731 [A/G] NM_001136022,NM_001198967,NM_001198965,NM_004554,NM_001198966 NFATC4,NFATC4,NFATC4,NFATC4,NFATC4 EXON Missense_R826Q,Missense_R826Q,Missense_R763Q,Missense_R763Q,Missense_R693Q exm1094133 14 24846861 [T/C] NM_001136022,NM_001198967,NM_001198965,NM_004554,NM_001198966 NFATC4,NFATC4,NFATC4,NFATC4,NFATC4 EXON Silent,Nonsense_R842X,Nonsense_R779X,Nonsense_R887X,Nonsense_R817X exm1094151 14 24877468 [A/G] NM_025081 NYNRIN EXON Missense_G198S exm1094158 14 24877699 [A/G] NM_025081 NYNRIN EXON Missense_S275G exm1094169 14 24878144 [T/C] NM_025081 NYNRIN EXON Missense_L382F exm1094175 14 24878258 [A/G] NM_025081 NYNRIN EXON Missense_E420K exm1094176 14 24878259 [A/T] NM_025081 NYNRIN EXON Missense_E420V exm1094178 14 24878310 [A/G] NM_025081 NYNRIN EXON Missense_G437E exm1094182 14 24878370 [T/C] NM_025081 NYNRIN EXON Missense_T457M exm1810395 14 24878399 [A/G] NM_025081 NYNRIN EXON Missense_D467N exm1094192 14 24878552 [A/G] NM_025081 NYNRIN EXON Missense_T518A exm1094196 14 24878670 [A/C] NM_025081 NYNRIN EXON Missense_N557T exm1094201 14 24878790 [G/C] NM_025081 NYNRIN EXON Missense_A597G exm1094203 14 24878921 [A/C] NM_025081 NYNRIN EXON Missense_K641Q exm1094204 14 24878954 [A/G] NM_025081 NYNRIN EXON Missense_T652A exm1810401 14 24878958 [T/C] NM_025081 NYNRIN EXON Missense_V653A exm1094207 14 24878988 [T/C] NM_025081 NYNRIN EXON Missense_P663L exm2222339 14 24879003 [T/C] NM_025081 NYNRIN EXON Missense_V668A exm1094214 14 24879161 [C/G] NM_025081 NYNRIN EXON Missense_G721R exm1094218 14 24879270 [A/G] NM_025081 NYNRIN EXON Missense_R757H exm1094236 14 24882304 [A/G] NM_025081 NYNRIN EXON Missense_R915H exm1094238 14 24882522 [T/C] NM_025081 NYNRIN EXON Synonymous_R915R exm1094247 14 24883887 [A/G] NM_025081 NYNRIN EXON Missense_A978T exm1094251 14 24883918 [A/G] NM_025081 NYNRIN EXON Missense_N988S exm1810418 14 24883964 [T/G] NM_025081 NYNRIN EXON Missense_E1003D exm1094267 14 24884426 [C/G] NM_025081 NYNRIN EXON Missense_Q1157H exm1810422 14 24884673 [T/G] NM_025081 NYNRIN EXON Missense_A1240S exm1094301 14 24885382 [T/C] NM_025081 NYNRIN EXON Missense_P1476L exm1094311 14 24885606 [A/G] NM_025081 NYNRIN EXON Missense_I1551V exm1094316 14 24885861 [A/C] NM_025081 NYNRIN EXON Missense_L1636I exm1094321 14 24885925 [T/C] NM_025081 NYNRIN EXON Missense_T1657M exm1094336 14 24886311 [A/G] NM_025081 NYNRIN EXON Missense_M1786V exm1094337 14 24886342 [T/A] NM_025081 NYNRIN EXON Missense_E1796V exm1810435 14 24897059 [T/C] NM_001039771 CBLN3 EXON Missense_R185Q exm1810446 14 24897996 [T/C] NM_001039771 CBLN3 EXON Missense_G89S exm1094387 14 24900115 [A/G] NM_015299 KHNYN EXON Missense_K60R exm1810456 14 24900753 [T/C] NM_015299 KHNYN EXON Nonsense_Q96X exm1810461 14 24901164 [A/G] NM_015299 KHNYN EXON Missense_E233K exm1094415 14 24901368 [T/C] NM_015299 KHNYN EXON Missense_P301S exm2251731 14 24901433 [T/C] NM_015299 KHNYN EXON Synonymous_H322H exm1094422 14 24901546 [T/C] NM_015299 KHNYN EXON Missense_P360L exm1094429 14 24901680 [T/C] NM_015299 KHNYN EXON Nonsense_R405X exm2274682 14 24901687 [T/G] NM_015299 KHNYN EXON Missense_G407V exm1094433 14 24901779 [T/C] NM_015299 KHNYN EXON Missense_R438C exm1094442 14 24902050 [A/G] NM_015299 KHNYN EXON Missense_K491R exm1094446 14 24905315 [A/G] NM_015299 KHNYN EXON Missense_I539V exm1094454 14 24906250 [A/G] NM_015299 KHNYN EXON Missense_G599E exm1094467 14 24909305 [T/C] NM_015299,NM_020195 KHNYN,SDR39U1 EXON Silent,Missense_K289R exm1094468 14 24909362 [T/C] NM_015299,NM_020195 KHNYN,SDR39U1 EXON Silent,Missense_Q270R exm1094475 14 24909458 [T/C] NM_015299,NM_020195 KHNYN,SDR39U1 EXON Silent,Missense_R238H exm1094477 14 24909475 [G/C] NM_015299,NM_020195 KHNYN,SDR39U1 EXON Silent,Missense_L232F exm1094483 14 24909588 [T/C] NM_015299,NM_020195 KHNYN,SDR39U1 EXON Silent,Missense_I195V exm1094491 14 24910055 [T/C] NM_015299,NM_020195 KHNYN,SDR39U1 EXON Silent,Missense_V136I exm1094493 14 24910076 [A/T] NM_015299,NM_020195 KHNYN,SDR39U1 EXON Silent,Missense_F129I exm1094495 14 24910909 [C/G] NM_020195 SDR39U1 EXON Missense_P100R exm1094499 14 24910973 [T/G] NM_020195 SDR39U1 EXON Missense_I79L exm1094502 14 24911432 [A/T] NM_020195 SDR39U1 EXON Missense_D53V exm1094506 14 24911465 [T/C] NM_020195 SDR39U1 EXON Missense_D42G exm1094522 14 24974790 [A/G] NM_001836 CMA1 EXON Missense_P226S exm1094525 14 24974817 [T/C] NM_001836 CMA1 EXON Missense_V217I exm1094528 14 24975235 [T/C] NM_001836 CMA1 EXON Missense_K200R exm1094530 14 24975287 [A/G] NM_001836 CMA1 EXON Missense_H183Y exm1094531 14 24975325 [A/G] NM_001836 CMA1 EXON Missense_M170T exm1094535 14 24975377 [A/C] NM_001836 CMA1 EXON Missense_G153C exm1094536 14 24975382 [T/C] NM_001836 CMA1 EXON Missense_R151K exm1810509 14 24976561 [C/G] NM_001836 CMA1 Silent exm1094549 14 24976574 [T/C] NM_001836 CMA1 EXON Missense_H66R exm1810511 14 24976628 [T/G] NM_001836 CMA1 EXON Nonsense_S48X exm1094550 14 24976635 [G/C] NM_001836 CMA1 EXON Missense_G46R exm1094551 14 24976657 [T/G] NM_001836 CMA1 EXON Nonsense_Y38X exm1094554 14 24976673 [T/C] NM_001836 CMA1 EXON Missense_R33H exm1094555 14 24976674 [A/G] NM_001836 CMA1 EXON Missense_R33C exm1094556 14 24976701 [T/C] NM_001836 CMA1 EXON Missense_G24R exm1094568 14 25042955 [T/C] NM_001911 CTSG EXON Missense_K219R exm1094584 14 25043671 [T/C] NM_001911 CTSG EXON Missense_N125S exm1094587 14 25043951 [A/G] NM_001911 CTSG EXON Missense_T90I exm1094594 14 25044550 [T/C] NM_001911 CTSG EXON Missense_S42G exm1094596 14 25044616 [T/C] NM_001911 CTSG EXON Missense_E20K exm1094597 14 25045386 [G/C] NM_001911 CTSG EXON Missense_G15A exm1094600 14 25075810 [A/T] NM_033423,NM_001270780,NM_001270781 GZMH,GZMH,GZMH EXON Missense_X247L,Missense_X183L,Missense_X161L exm1094609 14 25075931 [T/C] NM_033423,NM_001270780,NM_001270781 GZMH,GZMH,GZMH EXON Missense_V207M,Missense_V143M,Missense_V121M exm1094612 14 25075949 [C/G] NM_033423,NM_001270780,NM_001270781 GZMH,GZMH,GZMH EXON Missense_D201H,Missense_D137H,Missense_D115H exm1094614 14 25076355 [T/C] NM_033423,NM_001270780,NM_001270781 GZMH,GZMH,GZMH EXON Synonymous_K199K,Silent,Silent exm1094616 14 25076402 [T/G] NM_033423,NM_001270780,NM_001270781 GZMH,GZMH,GZMH EXON Missense_T184P,Silent,Silent exm1094621 14 25076477 [G/C] NM_033423,NM_001270780,NM_001270781 GZMH,GZMH,GZMH EXON Missense_L159V,Silent,Silent exm1810532 14 25076494 [T/C] NM_033423,NM_001270780,NM_001270781 GZMH,GZMH,GZMH EXON Missense_S153N,Silent,Silent exm1094637 14 25077520 [T/C] NM_033423,NM_001270780,NM_001270781 GZMH,GZMH,GZMH EXON Missense_I52V,Missense_I52V,Missense_I52V exm1810540 14 25077523 [T/C] NM_033423,NM_001270780,NM_001270781 GZMH,GZMH,GZMH EXON Missense_G51S,Missense_G51S,Missense_G51S exm1094639 14 25077537 [T/C] NM_033423,NM_001270780,NM_001270781 GZMH,GZMH,GZMH EXON Missense_R46Q,Missense_R46Q,Missense_R46Q exm1094643 14 25078765 [T/C] NM_033423,NM_001270780,NM_001270781 GZMH,GZMH,GZMH EXON Missense_E19K,Missense_E19K,Missense_E19K exm1094649 14 25100282 [A/G] NM_004131 GZMB EXON Missense_Y247H exm1094651 14 25100348 [A/T] NM_004131 GZMB EXON Missense_M225L exm1094655 14 25100391 [T/G] NM_004131 GZMB EXON Missense_N210K exm1094657 14 25101074 [A/G] NM_004131 GZMB EXON Missense_T197I exm1094663 14 25101120 [T/C] NM_004131 GZMB EXON Missense_D182N exm1094667 14 25101305 [T/C] NM_004131 GZMB EXON Missense_R120Q exm1094673 14 25101589 [G/C] NM_004131 GZMB EXON Missense_P94A exm1094677 14 25102160 [T/C] NM_004131 GZMB EXON Missense_R55Q exm2251732 14 25103662 [T/C] exm2267699 14 25167511 [A/G] exm-rs854384 14 25271520 [T/C] exm-rs10147992 14 25503799 [A/G] NM_014178 STXBP6 Silent exm2272057 14 25843774 [T/C] exm2260300 14 25977770 [T/G] exm-rs6574512 14 26077514 [A/G] exm2267635 14 26122448 [A/G] exm2267636 14 26840301 [A/G] exm1094730 14 26917545 [T/C] NM_006489,NM_002515 NOVA1,NOVA1 EXON Missense_T358A,Missense_T382A exm1094758 14 26941566 [A/G] NM_006489,NM_002515,NM_006491 NOVA1,NOVA1,NOVA1 EXON Silent,Missense_S160F,Missense_S160F exm2264549 14 27180335 [A/C] exm-rs1951082 14 27260043 [T/A] exm2272058 14 27348573 [T/G] exm-rs17111920 14 27406892 [T/G] exm-rs2877832 14 27800177 [T/C] exm2272155 14 27810095 [T/C] exm2267637 14 27984523 [A/G] exm2272059 14 28457813 [T/C] exm2272156 14 28788618 [T/G] exm-rs7493138 14 29021928 [T/C] exm2267638 14 29046822 [A/G] exm-rs7145636 14 29063877 [A/G] exm-rs2038256 14 29249349 [T/G] NR_026731 C14orf23 Silent exm2267700 14 29313269 [A/G] exm2272060 14 29579407 [T/C] exm2264540 14 29980231 [A/C] NR_039672 MIR548AI Silent exm1094836 14 30046460 [T/C] NR_039672,NM_002742 MIR548AI,PRKD1 EXON Silent,Missense_R908H exm1094839 14 30046511 [T/C] NR_039672,NM_002742 MIR548AI,PRKD1 EXON Silent,Missense_H891R exm1094840 14 30046526 [T/C] NR_039672,NM_002742 MIR548AI,PRKD1 EXON Silent,Missense_N886S exm1094849 14 30066709 [T/C] NR_039672,NM_002742 MIR548AI,PRKD1 EXON Silent,Missense_I808V exm1094864 14 30068315 [T/C] NR_039672,NM_002742 MIR548AI,PRKD1 EXON Silent,Missense_R695Q exm2222350 14 30068982 [A/C] NR_039672,NM_002742 MIR548AI,PRKD1 EXON Silent,Missense_F649L exm1094873 14 30093411 [A/G] NR_039672,NM_002742 MIR548AI,PRKD1 EXON Silent,Nonsense_R618X exm1094881 14 30099993 [T/C] NR_039672,NM_002742 MIR548AI,PRKD1 EXON Silent,Missense_V543I exm1094882 14 30100028 [A/G] NR_039672,NM_002742 MIR548AI,PRKD1 EXON Silent,Missense_M531T exm1094890 14 30100179 [T/C] NR_039672,NM_002742 MIR548AI,PRKD1 EXON Silent,Missense_A481T exm1094919 14 30105689 [A/G] NR_039672,NM_002742 MIR548AI,PRKD1 EXON Silent,Missense_P333S exm1094943 14 30133064 [A/C] NR_039672,NM_002742 MIR548AI,PRKD1 EXON Silent,Synonymous_G179G exm2276315 14 30135377 [A/G] NR_039672,NM_002742 MIR548AI,PRKD1 EXON Silent,Synonymous_H147H exm1094957 14 30194877 [G/C] NM_002742 PRKD1 EXON Missense_P90A exm2267701 14 30312091 [A/G] NM_002742 PRKD1 Silent exm-rs11847697 14 30515112 [T/C] exm2251747 14 30691706 [T/C] exm2260306 14 30792163 [T/C] exm1094982 14 31061628 [A/G] NM_017769 G2E3 EXON Missense_I113V exm1094985 14 31062739 [T/C] NM_017769 G2E3 EXON Missense_S141F exm1094989 14 31067742 [A/G] NM_017769 G2E3 EXON Missense_Y230C exm1094991 14 31067748 [A/G] NM_017769 G2E3 EXON Missense_R232H exm1094996 14 31071238 [T/C] NM_017769 G2E3 EXON Missense_P304L exm1094997 14 31071262 [T/C] NM_017769 G2E3 EXON Missense_T312I exm1094998 14 31071288 [A/C] NM_017769 G2E3 EXON Missense_P321T exm1095002 14 31071310 [T/C] NM_017769 G2E3 EXON Missense_P328L exm1095020 14 31081545 [C/G] NM_017769 G2E3 EXON Missense_G545R exm1095026 14 31085525 [A/G] NM_017769 G2E3 EXON Missense_A636T exm1095039 14 31099759 [T/C] NM_182835,NR_047547,NR_047548,NM_016106,NR_047546,NM_001257376 SCFD1,SCFD1,SCFD1,SCFD1,SCFD1,SCFD1 EXON Missense_I3T,Silent,Silent,Missense_I70T,Silent,Silent exm1095069 14 31119819 [A/C] NM_182835,NR_047547,NR_047548,NM_016106,NR_047546,NM_001257376 SCFD1,SCFD1,SCFD1,SCFD1,SCFD1,SCFD1 EXON Missense_L173I,Silent,Silent,Missense_L240I,Silent,Missense_L148I exm1095081 14 31143162 [T/A] NM_182835,NR_047547,NR_047548,NM_016106,NR_047546,NM_001257376 SCFD1,SCFD1,SCFD1,SCFD1,SCFD1,SCFD1 EXON Missense_S306R,Silent,Silent,Missense_S373R,Silent,Missense_S281R exm2251748 14 31153190 [A/G] NM_182835,NR_047547,NR_047548,NM_016106,NR_047546,NM_001257376 SCFD1,SCFD1,SCFD1,SCFD1,SCFD1,SCFD1 Silent,Silent,Silent,Silent,Silent,Silent exm1095086 14 31164033 [A/G] NM_182835,NR_047547,NR_047548,NM_016106,NR_047546,NM_001257376 SCFD1,SCFD1,SCFD1,SCFD1,SCFD1,SCFD1 EXON Missense_T366A,Silent,Silent,Missense_T433A,Silent,Missense_T341A exm1095119 14 31346813 [A/G] NM_004086,NM_001135058,NR_038356 COCH,COCH,LOC100506071 EXON Missense_D40N,Missense_D40N,Silent exm1810862 14 31348049 [A/G] NM_004086,NM_001135058,NR_038356 COCH,COCH,LOC100506071 EXON Missense_R91Q,Missense_R91Q,Silent exm1095157 14 31354707 [A/G] NM_004086,NM_001135058,NR_038356 COCH,COCH,LOC100506071 EXON Missense_D281N,Missense_D281N,Silent exm1095171 14 31355096 [G/C] NM_004086,NM_001135058,NR_038356 COCH,COCH,LOC100506071 EXON Missense_T352S,Missense_T352S,Silent exm1095182 14 31355245 [A/G] NM_004086,NM_001135058,NR_038356 COCH,COCH,LOC100506071 EXON Missense_I402V,Missense_I402V,Silent exm1095185 14 31355311 [T/G] NM_004086,NM_001135058,NR_038356 COCH,COCH,LOC100506071 EXON Missense_Y424D,Missense_Y424D,Silent exm1095188 14 31355389 [A/G] NM_004086,NM_001135058,NR_038356 COCH,COCH,LOC100506071 EXON Missense_I450V,Missense_I450V,Silent exm1095193 14 31358897 [A/G] NM_004086,NM_001135058,NR_038356 COCH,COCH,LOC100506071 EXON Missense_E518G,Missense_E518G,Silent exm1095194 14 31358918 [T/G] NM_004086,NM_001135058,NR_038356 COCH,COCH,LOC100506071 EXON Missense_R525I,Missense_R525I,Silent exm2222356 14 31358920 [T/G] NM_004086,NM_001135058,NR_038356 COCH,COCH,LOC100506071 EXON Nonsense_E526X,Nonsense_E526X,Silent exm1095206 14 31364948 [A/G] NM_014574,NM_001083893 STRN3,STRN3 EXON Missense_M631T,Missense_M715T exm1095214 14 31374711 [T/C] NM_014574,NM_001083893 STRN3,STRN3 EXON Missense_V564I,Missense_V648I exm1095216 14 31374738 [A/G] NM_014574,NM_001083893 STRN3,STRN3 EXON Missense_F555L,Missense_F639L exm1095230 14 31381351 [T/C] NM_014574,NM_001083893 STRN3,STRN3 EXON Missense_N387S,Missense_N471S exm1095243 14 31398447 [T/C] NM_014574,NM_001083893 STRN3,STRN3 EXON Silent,Synonymous_E353E exm2251749 14 31398447 [T/C] NM_014574,NM_001083893 STRN3,STRN3 EXON Silent,Synonymous_E353E exm1095246 14 31404389 [A/G] NM_014574,NM_001083893 STRN3,STRN3 EXON Missense_S323L,Missense_S323L exm1095252 14 31405717 [T/C] NM_014574,NM_001083893 STRN3,STRN3 EXON Missense_R277Q,Missense_R277Q exm1095253 14 31405718 [A/G] NM_014574,NM_001083893 STRN3,STRN3 EXON Missense_R277W,Missense_R277W exm1095255 14 31405754 [T/C] NM_014574,NM_001083893 STRN3,STRN3 EXON Missense_M265V,Missense_M265V exm1095262 14 31416312 [G/C] NM_014574,NM_001083893 STRN3,STRN3 EXON Missense_G234R,Missense_G234R exm1095267 14 31416416 [T/C] NM_014574,NM_001083893 STRN3,STRN3 EXON Missense_R199Q,Missense_R199Q exm1095283 14 31425444 [T/C] NM_014574,NM_001083893 STRN3,STRN3 EXON Missense_R96Q,Missense_R96Q exm1095308 14 31535431 [A/G] NM_001254729,NM_001128126,NM_001254727,NM_001254726,NM_007077,NM_001254728 AP4S1,AP4S1,AP4S1,AP4S1,AP4S1,AP4S1 EXON Missense_K10R,Missense_K10R,Missense_K10R,Missense_K10R,Missense_K10R,Missense_K10R exm1095315 14 31535541 [A/G] NM_001254729,NM_001128126,NM_001254727,NM_001254726,NM_007077,NM_001254728 AP4S1,AP4S1,AP4S1,AP4S1,AP4S1,AP4S1 Silent,Silent,Silent,Silent,Silent,Silent exm1095316 14 31539064 [T/C] NM_001254729,NM_001128126,NM_001254727,NM_001254726,NM_007077,NM_001254728 AP4S1,AP4S1,AP4S1,AP4S1,AP4S1,AP4S1 EXON Missense_Y52H,Missense_Y52H,Missense_Y52H,Missense_Y52H,Missense_Y52H,Missense_Y52H exm1095320 14 31542174 [T/C] NM_001254729,NM_001128126,NM_001254727,NM_001254726,NM_007077,NM_001254728 AP4S1,AP4S1,AP4S1,AP4S1,AP4S1,AP4S1 EXON Nonsense_R97X,Nonsense_R97X,Nonsense_R97X,Nonsense_R97X,Nonsense_R97X,Nonsense_R97X exm1095323 14 31549832 [A/G] NM_001254729,NM_001128126,NM_001254727,NM_001254726,NM_007077,NM_001254728 AP4S1,AP4S1,AP4S1,AP4S1,AP4S1,AP4S1 EXON Silent,Silent,Missense_M116I,Silent,Missense_M116I,Silent exm1095325 14 31553981 [A/G] NM_001254729,NM_001128126,NM_001254727,NM_001254726,NM_007077,NM_001254728 AP4S1,AP4S1,AP4S1,AP4S1,AP4S1,AP4S1 EXON Silent,Silent,Silent,Missense_I101V,Missense_I125V,Silent exm1095344 14 31572251 [A/G] NM_015382 HECTD1 EXON Missense_P2474L exm1095351 14 31575891 [T/G] NM_015382 HECTD1 EXON Missense_P2396Q exm1810942 14 31576188 [T/C] NM_015382 HECTD1 EXON Missense_H2297R exm1095356 14 31576217 [A/C] NM_015382 HECTD1 EXON Missense_I2287M exm1095365 14 31578638 [T/G] NM_015382 HECTD1 EXON Missense_M2149L exm1095378 14 31582380 [A/G] NM_015382 HECTD1 EXON Missense_L2027P exm1095381 14 31582534 [A/G] NM_015382 HECTD1 EXON Missense_R2005C exm1095382 14 31582572 [T/C] NM_015382 HECTD1 EXON Missense_Q1992R exm1095387 14 31583156 [T/C] NM_015382 HECTD1 EXON Missense_H1928R exm1095388 14 31583172 [T/C] NM_015382 HECTD1 EXON Missense_A1923T exm1095391 14 31583512 [T/C] NM_015382 HECTD1 EXON Missense_E1885K exm1095393 14 31585464 [A/G] NM_015382 HECTD1 EXON Missense_R1866C exm1095394 14 31585533 [T/C] NM_015382 HECTD1 EXON Missense_I1843V exm1095397 14 31585607 [A/G] NM_015382 HECTD1 EXON Missense_A1818V exm1095400 14 31590599 [A/G] NM_015382 HECTD1 EXON Missense_I1743T exm1095403 14 31590688 [T/A] NM_015382 HECTD1 EXON Missense_Q1713H exm1095431 14 31598301 [T/C] NM_015382 HECTD1 EXON Missense_I1426V exm1095432 14 31598360 [T/C] NM_015382 HECTD1 EXON Missense_R1406Q exm1095435 14 31598392 [A/G] NM_015382 HECTD1 EXON Synonymous_S1395S exm2251750 14 31598392 [A/G] NM_015382 HECTD1 EXON Synonymous_S1395S exm1095436 14 31598406 [T/C] NM_015382 HECTD1 EXON Missense_V1391M exm1095437 14 31598427 [T/C] NM_015382 HECTD1 EXON Missense_S1384G exm1095438 14 31598472 [G/C] NM_015382 HECTD1 EXON Missense_P1369A exm1095443 14 31598647 [A/C] NM_015382 HECTD1 EXON Missense_I1310M exm1095446 14 31602530 [T/C] NM_015382 HECTD1 EXON Missense_R1279H exm1095465 14 31605738 [A/C] NM_015382 HECTD1 EXON Missense_M1038R exm1095475 14 31611155 [T/C] NM_015382 HECTD1 EXON Missense_M928V exm1811008 14 31614131 [T/C] NM_015382 HECTD1 EXON Missense_R838Q exm1095482 14 31617968 [A/C] NM_015382 HECTD1 EXON Missense_G819C exm1095501 14 31637526 [C/G] NM_015382 HECTD1 EXON Missense_Q534E exm1095503 14 31637565 [A/C] NM_015382 HECTD1 EXON Missense_L521V exm1095508 14 31641077 [T/C] NM_015382 HECTD1 EXON Missense_Q441R exm1095513 14 31642374 [T/C] NM_015382 HECTD1 EXON Missense_I382V exm1095540 14 31762552 [A/C] NM_015473 HEATR5A EXON Nonsense_G2034X exm2222366 14 31762629 [T/C] NM_015473 HEATR5A EXON Missense_R2008H exm1095547 14 31762779 [A/G] NM_015473 HEATR5A EXON Missense_S1958F exm1095549 14 31762816 [T/C] NM_015473 HEATR5A EXON Missense_A1946T exm1095550 14 31763111 [C/G] NM_015473 HEATR5A EXON Missense_A1940G exm1095552 14 31763142 [T/G] NM_015473 HEATR5A EXON Missense_I1930L exm1095554 14 31763201 [T/C] NM_015473 HEATR5A EXON Missense_Q1910R exm1095557 14 31765126 [T/C] NM_015473 HEATR5A EXON Missense_K1870E exm1095558 14 31765138 [T/G] NM_015473 HEATR5A EXON Missense_T1866P exm1095566 14 31765221 [A/G] NM_015473 HEATR5A EXON Missense_I1838T exm1095569 14 31765261 [T/C] NM_015473 HEATR5A EXON Missense_T1825A exm1095572 14 31771546 [A/G] NM_015473 HEATR5A EXON Missense_L1807F exm1095573 14 31771560 [A/G] NM_015473 HEATR5A EXON Missense_T1802I exm1095582 14 31774203 [G/C] NM_015473 HEATR5A EXON Missense_T1716R exm1095583 14 31774324 [T/C] NM_015473 HEATR5A EXON Missense_G1676R exm1095587 14 31775984 [G/C] NM_015473 HEATR5A EXON Missense_I1640M exm1095592 14 31778196 [T/C] NM_015473 HEATR5A EXON Missense_G1545E exm1095595 14 31778286 [A/G] NM_015473 HEATR5A EXON Missense_T1515M exm1095606 14 31782335 [T/C] NM_015473 HEATR5A EXON Missense_C1427Y exm1095608 14 31782395 [A/G] NM_015473 HEATR5A EXON Missense_V1407A exm1095610 14 31785059 [A/C] NM_015473 HEATR5A EXON Missense_A1379S exm1095614 14 31787461 [A/G] NM_015473 HEATR5A EXON Missense_T1336I exm1811077 14 31790734 [C/G] NM_015473 HEATR5A EXON Missense_H1314D exm1095617 14 31790770 [C/G] NM_015473 HEATR5A EXON Missense_R1302G exm1095620 14 31790886 [T/G] NM_015473 HEATR5A EXON Missense_N1263T exm1095627 14 31792896 [A/G] NM_015473 HEATR5A EXON Missense_P1221L exm1095629 14 31792968 [T/C] NM_015473 HEATR5A EXON Missense_E1197G exm1095642 14 31806709 [T/C] NM_015473 HEATR5A EXON Missense_K1114E exm1095645 14 31806781 [T/C] NM_015473 HEATR5A EXON Missense_V1090I exm1095649 14 31806807 [A/C] NM_015473 HEATR5A EXON Missense_S1081I exm1095657 14 31814350 [C/G] NM_015473 HEATR5A EXON Missense_Q1001E exm1095674 14 31819047 [T/C] NM_015473 HEATR5A EXON Missense_V886M exm1095678 14 31819145 [A/G] NM_015473 HEATR5A EXON Missense_M853T exm1095683 14 31819870 [T/C] NM_015473 HEATR5A EXON Missense_R822H exm1095693 14 31828110 [A/G] NM_015473 HEATR5A EXON Missense_I742T exm1095698 14 31833463 [A/G] NM_015473 HEATR5A EXON Missense_T668I exm1095704 14 31841079 [A/G] NM_015473 HEATR5A EXON Missense_L633P exm1095707 14 31844064 [T/A] NM_015473 HEATR5A EXON Missense_T607S exm1095712 14 31844163 [T/C] NM_015473 HEATR5A EXON Missense_V574I exm2222370 14 31852768 [T/C] NM_015473 HEATR5A EXON Missense_V519I exm1095720 14 31852828 [T/G] NM_015473 HEATR5A EXON Missense_K499Q exm1095724 14 31852854 [T/C] NM_015473 HEATR5A EXON Missense_R490H exm1095726 14 31852926 [T/C] NM_015473 HEATR5A EXON Missense_R466Q exm1095733 14 31855725 [T/C] NM_015473 HEATR5A EXON Missense_A416T exm1095736 14 31856380 [C/G] NM_015473 HEATR5A EXON Missense_L379V exm1095737 14 31856407 [T/C] NM_015473 HEATR5A EXON Missense_G370S exm1095739 14 31856418 [T/C] NM_015473 HEATR5A EXON Missense_R366Q exm1095745 14 31858073 [T/C] NM_015473 HEATR5A EXON Missense_D304G exm1095747 14 31858187 [T/C] NM_015473 HEATR5A EXON Missense_R266K exm1095748 14 31858209 [T/C] NM_015473 HEATR5A EXON Missense_A259T exm2251752 14 31863750 [A/G] NM_015473 HEATR5A Silent exm1095751 14 31864485 [G/C] NM_015473 HEATR5A EXON Missense_P173A exm2251753 14 31922515 [A/G] NM_080664 DTD2 EXON Synonymous_F49F exm1095771 14 31952744 [T/C] NR_036675,NM_001197184 GPR33,GPR33 EXON Silent,Missense_R143H exm2222374 14 31952795 [T/C] NR_036675,NM_001197184 GPR33,GPR33 EXON Silent,Missense_R126H exm2272158 14 32021438 [T/C] exm1095778 14 32030722 [T/G] NM_025152 NUBPL EXON Missense_G26V exm1095781 14 32031331 [A/G] NM_025152 NUBPL EXON Missense_G56R exm1095790 14 32068514 [T/C] NM_025152,NM_001201573 NUBPL,NUBPL EXON Missense_L104P,Missense_L8P exm-rs7142881 14 32093548 [A/G] NM_025152,NM_001201573 NUBPL,NUBPL Silent,Silent exm1095796 14 32142561 [A/G] NM_025152,NM_001201573 NUBPL,NUBPL EXON Missense_S128N,Missense_S32N exm1095798 14 32142591 [A/G] NM_025152,NM_001201573 NUBPL,NUBPL EXON Missense_G138D,Missense_G42D exm1095803 14 32257017 [T/C] NM_025152,NM_001201573,NM_001201574 NUBPL,NUBPL,NUBPL EXON Missense_V182A,Missense_V86A,Silent exm1095806 14 32257065 [A/C] NM_025152,NM_001201573,NM_001201574 NUBPL,NUBPL,NUBPL EXON Missense_N198T,Missense_N102T,Missense_N15T exm1095811 14 32295912 [T/C] NM_025152,NM_001201573,NM_001201574 NUBPL,NUBPL,NUBPL EXON Missense_H229Y,Missense_H133Y,Missense_H46Y exm1095812 14 32315734 [A/G] NM_025152,NM_001201573,NM_001201574 NUBPL,NUBPL,NUBPL EXON Missense_T251A,Missense_T155A,Missense_T68A exm-rs2039485 14 32353250 [T/C] exm-rs915071 14 32433858 [T/C] exm2251754 14 32501255 [T/C] exm1095830 14 32559924 [A/G] NM_001173,NM_001030055 ARHGAP5,ARHGAP5 EXON Missense_I17V,Missense_I17V exm2222379 14 32561109 [A/G] NM_001173,NM_001030055 ARHGAP5,ARHGAP5 EXON Missense_K412E,Missense_K412E exm2222381 14 32561279 [T/G] NM_001173,NM_001030055 ARHGAP5,ARHGAP5 EXON Missense_E468D,Missense_E468D exm1095862 14 32561313 [T/C] NM_001173,NM_001030055 ARHGAP5,ARHGAP5 EXON Nonsense_R480X,Nonsense_R480X exm1095874 14 32561778 [T/C] NM_001173,NM_001030055 ARHGAP5,ARHGAP5 EXON Missense_R635W,Missense_R635W exm1095876 14 32561829 [A/G] NM_001173,NM_001030055 ARHGAP5,ARHGAP5 EXON Missense_A652T,Missense_A652T exm1095881 14 32561923 [T/C] NM_001173,NM_001030055 ARHGAP5,ARHGAP5 EXON Missense_S683F,Missense_S683F exm1095893 14 32562222 [A/T] NM_001173,NM_001030055 ARHGAP5,ARHGAP5 EXON Missense_C783S,Missense_C783S exm1095923 14 32562882 [A/G] NM_001173,NM_001030055 ARHGAP5,ARHGAP5 EXON Missense_T1003A,Missense_T1003A exm1095934 14 32563101 [T/C] NM_001173,NM_001030055 ARHGAP5,ARHGAP5 EXON Missense_R1076W,Missense_R1076W exm1095935 14 32563129 [T/C] NM_001173,NM_001030055 ARHGAP5,ARHGAP5 EXON Missense_M1085T,Missense_M1085T exm1095943 14 32563383 [A/G] NM_001173,NM_001030055 ARHGAP5,ARHGAP5 EXON Missense_R1170G,Missense_R1170G exm1095965 14 32623861 [A/G] NM_001173,NM_001030055 ARHGAP5,ARHGAP5 EXON Missense_A1405T,Missense_A1406T exm1095972 14 32624071 [A/G] NM_001173,NM_001030055 ARHGAP5,ARHGAP5 EXON Missense_M1475V,Missense_M1476V exm-rs7151991 14 32635572 [A/G] exm2251755 14 32780576 [A/G] exm1095981 14 32902715 [A/G] NM_004274 AKAP6 EXON Missense_V6M exm2272159 14 32913332 [T/C] NM_004274 AKAP6 Silent exm1095990 14 33004851 [A/G] NM_004274 AKAP6 EXON Missense_N139S exm1095992 14 33004859 [T/G] NM_004274 AKAP6 EXON Missense_V142L exm2222388 14 33004971 [A/C] NM_004274 AKAP6 EXON Missense_Q179P exm1096012 14 33014752 [C/G] NM_004274 AKAP6 EXON Missense_S298C exm1096014 14 33014787 [A/G] NM_004274 AKAP6 EXON Missense_D310N exm1096018 14 33014869 [T/C] NM_004274 AKAP6 EXON Missense_A337V exm1096032 14 33015082 [A/G] NM_004274 AKAP6 EXON Missense_N408S exm1096035 14 33015168 [T/C] NM_004274 AKAP6 EXON Missense_L437F exm1096040 14 33015237 [T/C] NM_004274 AKAP6 EXON Missense_H460Y exm1096051 14 33015447 [T/C] NM_004274 AKAP6 EXON Missense_P530S exm1096053 14 33015531 [A/G] NM_004274 AKAP6 EXON Missense_N558D exm1096058 14 33015699 [A/G] NM_004274 AKAP6 EXON Missense_V614I exm1096059 14 33015774 [A/C] NM_004274 AKAP6 EXON Missense_Q639K exm1096066 14 33016050 [A/G] NM_004274 AKAP6 EXON Missense_A731T exm1096074 14 33046390 [A/C] NM_004274 AKAP6 EXON Missense_N804T exm1096083 14 33069852 [C/G] NM_004274 AKAP6 EXON Missense_R862G exm1096084 14 33069859 [T/C] NM_004274 AKAP6 EXON Missense_I864T exm1096086 14 33069931 [A/C] NM_004274 AKAP6 EXON Missense_T888N exm1096088 14 33069942 [A/G] NM_004274 AKAP6 EXON Missense_E892K exm1096090 14 33069977 [C/G] NM_004274 AKAP6 EXON Missense_E903D exm1096109 14 33204942 [A/G] NM_004274 AKAP6 EXON Missense_S1076G exm1096112 14 33204991 [T/G] NM_004274 AKAP6 EXON Missense_G1092V exm1096115 14 33205051 [A/G] NM_004274 AKAP6 EXON Missense_G1112E exm1096117 14 33242893 [T/C] NM_004274 AKAP6 EXON Missense_R1128C exm1811322 14 33243091 [A/G] NM_004274 AKAP6 EXON Missense_K1194E exm2272063 14 33253490 [T/G] NM_004274 AKAP6 Silent exm-rs2383378 14 33282470 [A/C] NM_004274 AKAP6 Silent exm1096133 14 33290925 [A/G] NM_004274 AKAP6 EXON Missense_M1302I exm1096138 14 33291086 [A/T] NM_004274 AKAP6 EXON Missense_M1356K exm1096151 14 33291311 [T/C] NM_004274 AKAP6 EXON Missense_S1431L exm1096153 14 33291385 [A/G] NM_004274 AKAP6 EXON Missense_E1456K exm1096156 14 33291485 [A/G] NM_004274 AKAP6 EXON Missense_S1489N exm1096160 14 33291494 [T/C] NM_004274 AKAP6 EXON Missense_A1492V exm1096163 14 33291517 [T/C] NM_004274 AKAP6 EXON Missense_R1500C exm1096168 14 33291565 [A/G] NM_004274 AKAP6 EXON Missense_T1516A exm2222390 14 33291580 [T/G] NM_004274 AKAP6 EXON Missense_D1521Y exm1096169 14 33291583 [A/G] NM_004274 AKAP6 EXON Missense_V1522I exm1096176 14 33291680 [A/C] NM_004274 AKAP6 EXON Missense_Q1554P exm1096187 14 33291976 [A/C] NM_004274 AKAP6 EXON Missense_S1653R exm1096200 14 33292181 [A/G] NM_004274 AKAP6 EXON Missense_R1721H exm1096202 14 33292189 [T/C] NM_004274 AKAP6 EXON Missense_R1724C exm1096203 14 33292190 [A/G] NM_004274 AKAP6 EXON Missense_R1724H exm1811347 14 33292345 [A/G] NM_004274 AKAP6 EXON Missense_D1776N exm1096212 14 33292447 [A/T] NM_004274 AKAP6 EXON Missense_L1810M exm1096215 14 33292577 [T/C] NM_004274 AKAP6 EXON Missense_V1853A exm1096218 14 33292645 [T/C] NM_004274 AKAP6 EXON Missense_R1876C exm1096237 14 33293122 [A/G] NM_004274 AKAP6 EXON Missense_N2035D exm1096240 14 33293170 [A/G] NM_004274 AKAP6 EXON Missense_A2051T exm2251758 14 33293244 [T/C] NM_004274 AKAP6 EXON Synonymous_S2075S exm1096250 14 33293399 [A/G] NM_004274 AKAP6 EXON Missense_N2127S exm1811355 14 33293405 [T/C] NM_004274 AKAP6 EXON Missense_I2129T exm2276316 14 33293523 [A/G] NM_004274 AKAP6 EXON Synonymous_E2168E exm1096254 14 33293531 [A/T] NM_004274 AKAP6 EXON Missense_F2171Y exm1096256 14 33293591 [G/C] NM_004274 AKAP6 EXON Missense_A2191G exm1096258 14 33293647 [A/G] NM_004274 AKAP6 EXON Missense_T2210A exm1096260 14 33293788 [A/G] NM_004274 AKAP6 EXON Missense_G2257R exm1096261 14 33293820 [A/T] NM_004274 AKAP6 EXON Missense_E2267D exm-rs10872871 14 33386759 [T/C] exm-rs4982029 14 33476266 [A/G] NM_022123,NM_001165893,NM_173159,NM_001164749 NPAS3,NPAS3,NPAS3,NPAS3 Silent,Silent,Silent,Silent exm-rs8015959 14 33480922 [T/C] NM_022123,NM_001165893,NM_173159,NM_001164749 NPAS3,NPAS3,NPAS3,NPAS3 Silent,Silent,Silent,Silent exm-rs243284 14 33713054 [T/C] NM_022123,NM_001165893,NM_173159,NM_001164749 NPAS3,NPAS3,NPAS3,NPAS3 Silent,Silent,Silent,Silent exm1096288 14 33836390 [A/T] NM_022123,NM_001165893,NM_173159,NM_001164749 NPAS3,NPAS3,NPAS3,NPAS3 Silent,Silent,Silent,Silent exm2260309 14 33956209 [A/C] NM_022123,NM_001165893,NM_173159,NM_001164749 NPAS3,NPAS3,NPAS3,NPAS3 Silent,Silent,Silent,Silent exm2272064 14 33979974 [T/C] NM_022123,NM_001165893,NM_173159,NM_001164749 NPAS3,NPAS3,NPAS3,NPAS3 Silent,Silent,Silent,Silent exm2251761 14 34124784 [A/G] NM_022123,NM_001165893,NM_173159,NM_001164749 NPAS3,NPAS3,NPAS3,NPAS3 Silent,Silent,Silent,Silent exm-rs1958055 14 34184786 [A/G] NM_022123,NM_001165893,NM_173159,NM_001164749 NPAS3,NPAS3,NPAS3,NPAS3 Silent,Silent,Silent,Silent exm1096308 14 34243570 [G/C] NM_022123,NM_001165893,NM_173159,NM_001164749 NPAS3,NPAS3,NPAS3,NPAS3 EXON Missense_L262V,Missense_L264V,Missense_L281V,Missense_L294V exm1096309 14 34243600 [A/G] NM_022123,NM_001165893,NM_173159,NM_001164749 NPAS3,NPAS3,NPAS3,NPAS3 EXON Missense_V272I,Missense_V274I,Missense_V291I,Missense_V304I exm1096312 14 34243651 [G/C] NM_022123,NM_001165893,NM_173159,NM_001164749 NPAS3,NPAS3,NPAS3,NPAS3 EXON Missense_P289A,Missense_P291A,Missense_P308A,Missense_P321A exm1096319 14 34247709 [A/G] NM_022123,NM_001165893,NM_173159,NM_001164749 NPAS3,NPAS3,NPAS3,NPAS3 EXON Missense_V330I,Missense_V332I,Missense_V349I,Missense_V362I exm2251762 14 34266759 [A/G] NM_022123,NM_001165893,NM_173159,NM_001164749 NPAS3,NPAS3,NPAS3,NPAS3 EXON Synonymous_S434S,Synonymous_S436S,Synonymous_S453S,Synonymous_S466S exm1096333 14 34266771 [A/C] NM_022123,NM_001165893,NM_173159,NM_001164749 NPAS3,NPAS3,NPAS3,NPAS3 EXON Missense_D438E,Missense_D440E,Missense_D457E,Missense_D470E exm1096334 14 34266789 [T/C] NM_022123,NM_001165893,NM_173159,NM_001164749 NPAS3,NPAS3,NPAS3,NPAS3 Silent,Silent,Silent,Silent exm1096354 14 34269152 [T/C] NM_022123,NM_001165893,NM_173159,NM_001164749 NPAS3,NPAS3,NPAS3,NPAS3 EXON Missense_F515L,Missense_F517L,Missense_F534L,Missense_F547L exm1096355 14 34269167 [G/C] NM_022123,NM_001165893,NM_173159,NM_001164749 NPAS3,NPAS3,NPAS3,NPAS3 EXON Missense_A520P,Missense_A522P,Missense_A539P,Missense_A552P exm1096358 14 34269278 [T/G] NM_022123,NM_001165893,NM_173159,NM_001164749 NPAS3,NPAS3,NPAS3,NPAS3 EXON Missense_A557S,Missense_A559S,Missense_A576S,Missense_A589S exm1811432 14 34269487 [C/G] NM_022123,NM_001165893,NM_173159,NM_001164749 NPAS3,NPAS3,NPAS3,NPAS3 EXON Missense_F626L,Missense_F628L,Missense_F645L,Missense_F658L exm1096369 14 34269602 [A/G] NM_022123,NM_001165893,NM_173159,NM_001164749 NPAS3,NPAS3,NPAS3,NPAS3 EXON Missense_G665S,Missense_G667S,Missense_G684S,Missense_G697S exm1096388 14 34270283 [A/G] NM_022123,NM_001165893,NM_173159,NM_001164749 NPAS3,NPAS3,NPAS3,NPAS3 EXON Missense_A892T,Missense_A894T,Missense_A911T,Missense_A924T exm1096408 14 34419747 [T/C] NM_022073 EGLN3 EXON Missense_R71Q exm2272065 14 34754717 [T/C] exm1096441 14 34985658 [T/C] NM_018453 EAPP EXON Missense_R239Q exm1096442 14 34985666 [A/C] NM_018453 EAPP EXON Missense_R236S exm1096443 14 34985685 [T/C] NM_018453 EAPP EXON Missense_R230Q exm1096444 14 34985706 [A/G] NM_018453 EAPP EXON Missense_S223L exm1096449 14 34993982 [C/G] NM_018453 EAPP EXON Missense_Q168E exm1096450 14 34993984 [T/C] NM_018453 EAPP EXON Missense_R167H exm1096453 14 34998628 [T/C] NM_018453 EAPP EXON Missense_E136K exm1811467 14 35002689 [T/C] NM_018453 EAPP EXON Missense_I105V exm1096461 14 35002695 [T/C] NM_018453 EAPP EXON Missense_D103N exm1096464 14 35005338 [A/G] NM_018453 EAPP EXON Missense_M73T exm1096467 14 35005416 [T/C] NM_018453 EAPP EXON Missense_E47G exm2273513 14 35032318 [A/G] NM_152233,NM_021249 SNX6,SNX6 EXON Silent,Silent exm1096496 14 35050778 [T/C] NM_152233,NM_021249 SNX6,SNX6 EXON Missense_D287N,Missense_D159N exm1096517 14 35099117 [T/C] NM_152233,NM_021249 SNX6,SNX6 EXON Missense_R29H,Silent exm2272160 14 35134328 [T/C] exm-rs10139660 14 35173624 [T/C] exm1096534 14 35182602 [T/C] NR_028131,NM_021914,NR_028130,NM_138638,NM_001243645 CFL2,CFL2,CFL2,CFL2,CFL2 EXON Silent,Missense_V57M,Silent,Missense_V57M,Missense_V40M exm2251765 14 35182750 [T/C] NR_028131,NM_021914,NR_028130,NM_138638,NM_001243645 CFL2,CFL2,CFL2,CFL2,CFL2 EXON Silent,Synonymous_V7V,Silent,Synonymous_V7V,Silent exm1096552 14 35222760 [A/G] NM_182648,NM_013448 BAZ1A,BAZ1A EXON Missense_V1510A,Missense_V1542A exm1096566 14 35230980 [T/C] NM_182648,NM_013448 BAZ1A,BAZ1A EXON Missense_R1377K,Missense_R1409K exm1096572 14 35231108 [T/A] NM_182648,NM_013448 BAZ1A,BAZ1A EXON Missense_N1334K,Missense_N1366K exm1096577 14 35231242 [T/G] NM_182648,NM_013448 BAZ1A,BAZ1A EXON Missense_P1290T,Missense_P1322T exm1096579 14 35231254 [T/C] NM_182648,NM_013448 BAZ1A,BAZ1A EXON Missense_I1286V,Missense_I1318V exm1096584 14 35233995 [T/C] NM_182648,NM_013448 BAZ1A,BAZ1A EXON Missense_D1200N,Missense_D1232N exm1096585 14 35234028 [T/C] NM_182648,NM_013448 BAZ1A,BAZ1A EXON Missense_S1189G,Missense_S1221G exm1096590 14 35234474 [T/C] NM_182648,NM_013448 BAZ1A,BAZ1A EXON Missense_D1069G,Missense_D1101G exm2267643 14 35242828 [A/G] NM_182648,NM_013448 BAZ1A,BAZ1A EXON Synonymous_D1002D,Synonymous_D1034D exm1096607 14 35245155 [A/G] NM_182648,NM_013448 BAZ1A,BAZ1A EXON Missense_R903C,Missense_R935C exm1096608 14 35245241 [T/C] NM_182648,NM_013448 BAZ1A,BAZ1A EXON Missense_E874G,Missense_E906G exm1096611 14 35245332 [A/G] NM_182648,NM_013448 BAZ1A,BAZ1A EXON Missense_R844C,Missense_R876C exm1096626 14 35249467 [G/C] NM_182648,NM_013448 BAZ1A,BAZ1A EXON Missense_E689Q,Missense_E721Q exm1096649 14 35262072 [G/C] NM_182648,NM_013448 BAZ1A,BAZ1A EXON Missense_L473F,Missense_L473F exm1096679 14 35280226 [T/C] NM_182648,NM_013448 BAZ1A,BAZ1A EXON Missense_I185V,Missense_I185V exm1096685 14 35331262 [T/C] NM_182648,NM_013448 BAZ1A,BAZ1A EXON Missense_N127S,Missense_N127S exm1096722 14 35480760 [T/G] NM_003136,NM_001146282 SRP54,SRP54 EXON Missense_E177D,Missense_E128D exm1096725 14 35480865 [A/C] NM_003136,NM_001146282 SRP54,SRP54 EXON Synonymous_I212I,Synonymous_I163I exm1096728 14 35483100 [A/G] NM_003136,NM_001146282 SRP54,SRP54 EXON Missense_K293R,Missense_K244R exm1096755 14 35515716 [A/G] NM_001079519,NM_173607 FAM177A1,FAM177A1 EXON Silent,Missense_S16N exm1096757 14 35515746 [A/G] NM_001079519,NM_173607 FAM177A1,FAM177A1 EXON Missense_Q3R,Missense_Q26R exm1096768 14 35522579 [A/C] NM_001079519,NM_173607 FAM177A1,FAM177A1 EXON Missense_E64D,Missense_E87D exm1096793 14 35554954 [T/C] NM_017917 PPP2R3C EXON Missense_D402N exm1096795 14 35557198 [T/C] NM_017917 PPP2R3C EXON Missense_K378E exm1096800 14 35560302 [T/C] NM_017917 PPP2R3C EXON Missense_V363I exm1096804 14 35560358 [A/G] NM_017917 PPP2R3C EXON Missense_A344V exm1096814 14 35565764 [T/C] NM_017917 PPP2R3C EXON Missense_G280S exm1096834 14 35579746 [A/T] NM_017917 PPP2R3C EXON Missense_D92E exm1096837 14 35585829 [T/C] NM_017917 PPP2R3C EXON Missense_R58Q exm1096839 14 35585881 [T/C] NM_017917 PPP2R3C EXON Missense_E41K exm1096857 14 35592756 [A/G] NM_001256678,NM_001256679,NM_014672,NM_001256681,NM_001256680 KIAA0391,KIAA0391,KIAA0391,KIAA0391,KIAA0391 EXON Missense_D102G,Missense_D7G,Missense_D102G,Silent,Silent exm2276943 14 35593066 [A/T] NM_001256678,NM_001256679,NM_014672,NM_001256681,NM_001256680 KIAA0391,KIAA0391,KIAA0391,KIAA0391,KIAA0391 EXON Nonsense_Y205X,Nonsense_Y110X,Nonsense_Y205X,Silent,Silent exm1096871 14 35593133 [A/G] NM_001256678,NM_001256679,NM_014672,NM_001256681,NM_001256680 KIAA0391,KIAA0391,KIAA0391,KIAA0391,KIAA0391 EXON Missense_E228K,Missense_E133K,Missense_E228K,Silent,Silent exm1096872 14 35593137 [T/C] NM_001256678,NM_001256679,NM_014672,NM_001256681,NM_001256680 KIAA0391,KIAA0391,KIAA0391,KIAA0391,KIAA0391 EXON Missense_A229V,Missense_A134V,Missense_A229V,Silent,Silent exm1096889 14 35596805 [C/G] NM_001256678,NM_001256679,NM_014672,NM_001256681,NM_001256680 KIAA0391,KIAA0391,KIAA0391,KIAA0391,KIAA0391 EXON Missense_K369N,Missense_K290N,Missense_K385N,Missense_K13N,Missense_K13N exm1096891 14 35649943 [A/G] NM_001256678,NM_001256679,NM_014672,NM_001256681,NM_001256680 KIAA0391,KIAA0391,KIAA0391,KIAA0391,KIAA0391 EXON Missense_N396S,Missense_N317S,Missense_N412S,Missense_N40S,Missense_N40S exm-rs12586317 14 35682172 [T/C] NM_001256678,NM_001256679,NM_014672,NM_001256681,NM_001256680 KIAA0391,KIAA0391,KIAA0391,KIAA0391,KIAA0391 Silent,Silent,Silent,Silent,Silent exm1096895 14 35735945 [A/G] NM_001256678,NM_001256679,NM_014672,NM_001256681,NM_001256680 KIAA0391,KIAA0391,KIAA0391,KIAA0391,KIAA0391 EXON Missense_V414I,Missense_V335I,Missense_V430I,Missense_V58I,Missense_V58I exm1096897 14 35735958 [A/C] NM_001256678,NM_001256679,NM_014672,NM_001256681,NM_001256680 KIAA0391,KIAA0391,KIAA0391,KIAA0391,KIAA0391 EXON Missense_A418D,Missense_A339D,Missense_A434D,Missense_A62D,Missense_A62D exm1096899 14 35735967 [A/G] NM_001256678,NM_001256679,NM_014672,NM_001256681,NM_001256680 KIAA0391,KIAA0391,KIAA0391,KIAA0391,KIAA0391 EXON Missense_N421S,Missense_N342S,Missense_N437S,Missense_N65S,Missense_N65S exm1096902 14 35736029 [A/G] NM_001256678,NM_001256679,NM_014672,NM_001256681,NM_001256680 KIAA0391,KIAA0391,KIAA0391,KIAA0391,KIAA0391 EXON Missense_D442N,Missense_D363N,Missense_D458N,Missense_D86N,Missense_D86N exm1096903 14 35739607 [T/C] NM_001256678,NM_001256679,NM_014672,NM_001256681,NM_001256680 KIAA0391,KIAA0391,KIAA0391,KIAA0391,KIAA0391 EXON Synonymous_I459I,Synonymous_I380I,Synonymous_I475I,Synonymous_I103I,Synonymous_I103I exm1096906 14 35739657 [A/G] NM_001256678,NM_001256679,NM_014672,NM_001256681,NM_001256680 KIAA0391,KIAA0391,KIAA0391,KIAA0391,KIAA0391 EXON Missense_H476R,Missense_H397R,Missense_H492R,Missense_H120R,Missense_H120R exm1096920 14 35777201 [A/G] NM_002791 PSMA6 EXON Synonymous_E26E exm1096921 14 35777256 [A/C] NM_002791 PSMA6 EXON Missense_K45Q exm-rs8016947 14 35832666 [T/G] exm2272066 14 35852486 [T/C] exm1096960 14 35871715 [T/C] NM_020529 NFKBIA EXON Missense_R264Q exm1096969 14 35872032 [G/C] NM_020529 NFKBIA EXON Missense_G194A exm1096971 14 35872059 [A/G] NM_020529 NFKBIA EXON Missense_T185M exm1096984 14 35872494 [A/G] NM_020529 NFKBIA EXON Missense_P137S exm1096986 14 35872906 [T/C] NM_020529 NFKBIA EXON Missense_N109S exm1096995 14 35873775 [T/G] NM_020529 NFKBIA EXON Missense_L26M exm1097017 14 36004075 [A/G] NM_032594 INSM2 EXON Missense_D206G exm1097022 14 36004217 [T/G] NM_032594 INSM2 EXON Missense_L253F exm1097037 14 36004546 [T/C] NM_032594 INSM2 EXON Missense_A363V exm2276317 14 36004671 [A/G] NM_032594 INSM2 EXON Missense_G405R exm1097046 14 36004698 [T/C] NM_032594 INSM2 EXON Missense_P414S exm1097050 14 36004822 [C/G] NM_032594 INSM2 EXON Missense_A455G exm1097052 14 36004834 [T/G] NM_032594 INSM2 EXON Missense_G459V exm1097057 14 36005002 [T/G] NM_032594 INSM2 EXON Missense_G515V exm1097059 14 36005025 [A/C] NM_032594 INSM2 EXON Missense_Q523K exm1097076 14 36041924 [A/G] NM_194301,NM_014990 RALGAPA1,RALGAPA1 EXON Synonymous_L1898L,Synonymous_L1898L exm1097084 14 36094588 [T/C] NM_194301,NM_014990 RALGAPA1,RALGAPA1 EXON Missense_R1797K,Missense_R1797K exm1097111 14 36103797 [A/G] NM_194301,NM_014990 RALGAPA1,RALGAPA1 EXON Missense_L1487P,Missense_L1487P exm1097125 14 36104764 [A/G] NM_194301,NM_014990 RALGAPA1,RALGAPA1 EXON Missense_M1400T,Missense_M1400T exm1097138 14 36140611 [A/G] NM_194301,NM_014990 RALGAPA1,RALGAPA1 EXON Missense_S1223F,Missense_S1223F exm1097141 14 36142220 [T/C] NM_194301,NM_014990 RALGAPA1,RALGAPA1 EXON Missense_M1136I,Missense_M1136I exm1097142 14 36143784 [T/C] NM_194301,NM_014990 RALGAPA1,RALGAPA1 EXON Missense_D1080N,Missense_D1080N exm1097145 14 36147197 [T/C] NM_194301,NM_014990 RALGAPA1,RALGAPA1 EXON Missense_E1022G,Missense_E1022G exm1097156 14 36153177 [T/C] NM_194301,NM_014990 RALGAPA1,RALGAPA1 EXON Missense_T931A,Missense_T931A exm1097165 14 36154346 [T/C] NM_194301,NM_014990 RALGAPA1,RALGAPA1 EXON Missense_M855I,Missense_M855I exm1097167 14 36155749 [A/G] NM_194301,NM_014990 RALGAPA1,RALGAPA1 EXON Missense_S853L,Missense_S853L exm1097173 14 36155837 [C/G] NM_194301,NM_014990 RALGAPA1,RALGAPA1 EXON Missense_L824V,Missense_L824V exm1097174 14 36159069 [T/C] NM_194301,NM_014990 RALGAPA1,RALGAPA1 EXON Missense_E803K,Missense_E803K exm1097182 14 36190895 [A/G] NM_194301,NM_014990 RALGAPA1,RALGAPA1 EXON Synonymous_V755V,Synonymous_V755V exm1097183 14 36190917 [C/G] NM_194301,NM_014990 RALGAPA1,RALGAPA1 EXON Missense_S748T,Missense_S748T exm1097190 14 36191031 [A/G] NM_194301,NM_014990 RALGAPA1,RALGAPA1 EXON Missense_V710A,Missense_V710A exm1097254 14 36295815 [C/G] NM_032352 BRMS1L EXON Missense_E31D exm1811781 14 36300703 [A/C] NM_032352 BRMS1L EXON Missense_D77A exm1097258 14 36302204 [A/G] NM_032352 BRMS1L EXON Missense_S85N exm1097262 14 36304105 [T/G] NM_032352 BRMS1L EXON Missense_I139M exm2251769 14 36333119 [T/C] NM_032352 BRMS1L EXON Synonymous_D194D exm1097276 14 36334967 [T/C] NM_032352 BRMS1L EXON Missense_P243S exm2272161 14 36347986 [T/C] exm-rs1168987 14 36397680 [T/C] exm2251771 14 36583986 [T/C] NR_073454 LINC00609 Silent exm-rs944289 14 36649246 [T/C] exm1097287 14 36777304 [G/C] NM_016586,NM_001144891 MBIP,MBIP EXON Missense_Q294H,Missense_Q294H exm1097292 14 36780847 [T/C] NM_016586,NM_001144891 MBIP,MBIP EXON Missense_R241Q,Missense_R241Q exm1097293 14 36783738 [T/C] NM_016586,NM_001144891 MBIP,MBIP EXON Missense_N184S,Missense_N184S exm1811863 14 36783805 [A/G] NM_016586,NM_001144891 MBIP,MBIP EXON Nonsense_R162X,Nonsense_R162X exm1811868 14 36783975 [T/G] NM_016586,NM_001144891 MBIP,MBIP EXON Missense_E132D,Missense_E132D exm1097300 14 36785936 [A/G] NM_016586,NM_001144891 MBIP,MBIP EXON Missense_L71P,Missense_L71P exm1097312 14 36789729 [T/G] NM_016586,NM_001144891 MBIP,MBIP EXON Missense_R22S,Missense_R22S exm1097315 14 36789775 [A/T] NM_016586,NM_001144891 MBIP,MBIP EXON Missense_L7H,Missense_L7H exm2272162 14 36945384 [T/C] NM_001101341 SFTA3 Silent exm1097331 14 36946211 [T/C] NM_001101341 SFTA3 EXON Missense_T76A exm1097338 14 36946277 [G/C] NM_001101341 SFTA3 EXON Missense_P54A exm1097340 14 36946282 [T/C] NM_001101341 SFTA3 EXON Missense_R52Q exm1097377 14 36988463 [T/G] NM_003317,NM_001079668 NKX2-1,NKX2-1 EXON Missense_L34I,Missense_L64I exm1097378 14 36988465 [A/C] NM_003317,NM_001079668 NKX2-1,NKX2-1 EXON Missense_G33V,Missense_G63V exm-rs17104630 14 37000049 [A/G] exm1097409 14 37050547 [T/C] NM_014360 NKX2-8 EXON Missense_A94T exm1097412 14 37050577 [T/C] NM_014360 NKX2-8 EXON Missense_R84G exm1097416 14 37050642 [G/C] NM_014360 NKX2-8 EXON Missense_S62T exm1097419 14 37051470 [A/G] NM_014360 NKX2-8 EXON Missense_A42V exm2251772 14 37051526 [T/C] NM_014360 NKX2-8 EXON Synonymous_Q23Q exm1097430 14 37051584 [A/G] NM_014360 NKX2-8 EXON Missense_S4F exm1097450 14 37132525 [A/G] NM_006194 PAX9 EXON Missense_Y143C exm1097471 14 37135732 [T/C] NM_006194 PAX9 EXON Missense_F233L exm1097483 14 37149866 [A/C] NM_030631,NM_001171170 SLC25A21,SLC25A21 EXON Missense_W299C,Silent exm-rs8010306 14 37150160 [A/G] NM_030631,NM_001171170 SLC25A21,SLC25A21 Silent,Silent exm2275395 14 37154111 [T/C] NM_030631,NM_001171170 SLC25A21,SLC25A21 EXON Nonsense_W208X,Nonsense_W208X exm1097497 14 37180594 [A/G] NM_030631,NM_001171170 SLC25A21,SLC25A21 EXON Nonsense_R178X,Nonsense_R178X exm1097499 14 37180615 [T/C] NM_030631,NM_001171170 SLC25A21,SLC25A21 EXON Missense_G171R,Missense_G171R exm2251773 14 37190198 [T/C] NM_030631,NM_001171170 SLC25A21,SLC25A21 Silent,Silent exm1097502 14 37194785 [A/G] NM_030631,NM_001171170 SLC25A21,SLC25A21 EXON Missense_T143I,Missense_T143I exm1097504 14 37194797 [C/G] NM_030631,NM_001171170 SLC25A21,SLC25A21 EXON Missense_A139G,Missense_A139G exm1097505 14 37194876 [T/C] NM_030631,NM_001171170 SLC25A21,SLC25A21 EXON Missense_A113T,Missense_A113T exm1097515 14 37203770 [T/C] NM_030631,NM_001171170 SLC25A21,SLC25A21 EXON Missense_G71D,Missense_G71D exm1097521 14 37283145 [A/G] NM_030631,NM_001171170 SLC25A21,SLC25A21 EXON Nonsense_R61X,Nonsense_R61X exm1097522 14 37283181 [T/C] NM_030631,NM_001171170 SLC25A21,SLC25A21 EXON Missense_D49N,Missense_D49N exm2251774 14 37341703 [T/C] NM_030631,NM_001171170 SLC25A21,SLC25A21 Silent,Silent exm1097530 14 37344183 [A/G] NM_030631,NM_001171170 SLC25A21,SLC25A21 EXON Missense_P33S,Missense_P33S exm1097531 14 37344204 [A/C] NM_030631,NM_001171170 SLC25A21,SLC25A21 EXON Missense_V26L,Missense_V26L exm2267702 14 37603194 [A/G] NM_030631,NM_001171170 SLC25A21,SLC25A21 Silent,Silent exm1097567 14 37736325 [T/A] NM_138731,NM_001195297,NM_001195296 MIPOL1,MIPOL1,MIPOL1 EXON Missense_S68C,Missense_S68C,Missense_S68C exm1097572 14 37737909 [C/G] NM_138731,NM_001195297,NM_001195296 MIPOL1,MIPOL1,MIPOL1 EXON Missense_P100A,Missense_P100A,Missense_P100A exm1097573 14 37737922 [T/C] NM_138731,NM_001195297,NM_001195296 MIPOL1,MIPOL1,MIPOL1 EXON Missense_T104I,Missense_T104I,Missense_T104I exm1811984 14 37737941 [A/G] NM_138731,NM_001195297,NM_001195296 MIPOL1,MIPOL1,MIPOL1 EXON Synonymous_E110E,Synonymous_E110E,Synonymous_E110E exm1097582 14 37739655 [A/G] NM_138731,NM_001195297,NM_001195296 MIPOL1,MIPOL1,MIPOL1 EXON Missense_E140K,Missense_E140K,Missense_E140K exm1097603 14 37777720 [T/C] NM_138731,NM_001195297,NM_001195296 MIPOL1,MIPOL1,MIPOL1 EXON Missense_S275F,Missense_S275F,Missense_S275F exm1097607 14 37838786 [T/G] NM_138731,NM_001195297,NM_001195296 MIPOL1,MIPOL1,MIPOL1 EXON Missense_M298R,Missense_M298R,Missense_M298R exm2251776 14 37989270 [T/C] NM_138731,NM_001195297,NM_001195296 MIPOL1,MIPOL1,MIPOL1 Silent,Silent,Silent exm1097633 14 38060646 [T/C] NM_004496 FOXA1 EXON Missense_S448N exm1097659 14 38061547 [C/G] NM_004496 FOXA1 EXON Missense_L148V exm1097665 14 38061697 [T/C] NM_004496 FOXA1 EXON Missense_A98T exm1097667 14 38061742 [T/C] NM_004496 FOXA1 EXON Missense_A83T exm1097669 14 38061795 [T/C] NM_004496 FOXA1 EXON Missense_N65S exm1097680 14 38064109 [G/C] NM_004496 FOXA1 EXON Missense_Q23H exm2267644 14 38221992 [A/G] exm2272163 14 38299266 [T/C] exm-rs1952790 14 38342676 [A/G] exm1097746 14 38678640 [A/C] NM_001049 SSTR1 EXON Missense_P16T exm1097751 14 38678728 [T/C] NM_001049 SSTR1 EXON Missense_A45V exm1097775 14 38679357 [G/C] NM_001049 SSTR1 EXON Missense_L255V exm1097781 14 38679528 [T/G] NM_001049 SSTR1 EXON Missense_G312C exm1097808 14 38724051 [T/C] NM_175060 CLEC14A EXON Missense_D393N exm1097814 14 38724104 [T/C] NM_175060 CLEC14A EXON Missense_S375N exm1097816 14 38724159 [T/C] NM_175060 CLEC14A EXON Missense_T357A exm1097817 14 38724173 [T/C] NM_175060 CLEC14A EXON Missense_Q352R exm1097819 14 38724185 [T/C] NM_175060 CLEC14A EXON Missense_R348Q exm1097823 14 38724258 [T/C] NM_175060 CLEC14A EXON Missense_D324N exm1097824 14 38724267 [T/G] NM_175060 CLEC14A EXON Missense_I321L exm1097831 14 38724405 [T/C] NM_175060 CLEC14A EXON Missense_T275A exm1097836 14 38724545 [T/G] NM_175060 CLEC14A EXON Missense_A228E exm1097837 14 38724578 [T/C] NM_175060 CLEC14A EXON Missense_R217Q exm1097838 14 38724621 [C/G] NM_175060 CLEC14A EXON Missense_L203V exm1097840 14 38724653 [T/A] NM_175060 CLEC14A EXON Missense_Y192F exm1812202 14 38724656 [T/C] NM_175060 CLEC14A EXON Missense_S191N exm1097843 14 38724704 [A/G] NM_175060 CLEC14A EXON Missense_F175S exm1097850 14 38724837 [A/C] NM_175060 CLEC14A EXON Missense_V131L exm2222421 14 38725222 [G/C] NM_175060 CLEC14A EXON Missense_R2S exm-rs10498345 14 39020505 [A/T] exm2251779 14 39241025 [T/C] NR_039982 LINC00639 Silent exm1097862 14 39509974 [T/C] NM_006364 SEC23A EXON Missense_M702V exm1097865 14 39510040 [T/C] NM_006364 SEC23A EXON Missense_N680D exm1097866 14 39512070 [A/G] NM_006364 SEC23A EXON Missense_L636F exm1097880 14 39530997 [A/G] NM_006364 SEC23A EXON Missense_R493C exm2251780 14 39555071 [T/C] NM_006364 SEC23A EXON Synonymous_T241T exm1097911 14 39555071 [T/C] NM_006364 SEC23A EXON Synonymous_T241T exm1097912 14 39555082 [T/C] NM_006364 SEC23A EXON Missense_M238V exm1097917 14 39556176 [T/C] NM_006364 SEC23A EXON Missense_A214T exm1097918 14 39556185 [C/G] NM_006364 SEC23A EXON Missense_L211V exm1097923 14 39560784 [A/G] NM_006364 SEC23A EXON Missense_I167T exm1097954 14 39583672 [C/G] NM_003616,NM_001009182,NM_001009183 GEMIN2,GEMIN2,GEMIN2 EXON Missense_R55G,Missense_R55G,Missense_R55G exm1097966 14 39587798 [T/A] NM_003616,NM_001009182,NM_001009183 GEMIN2,GEMIN2,GEMIN2 EXON Missense_T134S,Missense_T134S,Missense_T134S exm1097969 14 39591686 [T/C] NM_003616,NM_001009182,NM_001009183 GEMIN2,GEMIN2,GEMIN2 EXON Missense_L153S,Missense_L153S,Missense_L153S exm1097970 14 39591697 [A/G] NM_003616,NM_001009182,NM_001009183 GEMIN2,GEMIN2,GEMIN2 EXON Missense_G157R,Missense_G157R,Missense_G157R exm1097985 14 39601190 [T/G] NM_003616,NM_001009182,NM_001009183 GEMIN2,GEMIN2,GEMIN2 EXON Missense_C221F,Missense_C206F,Missense_C221F exm1098018 14 39623473 [T/C] NM_177452,NM_001079537 TRAPPC6B,TRAPPC6B EXON Silent,Missense_K98R exm1812486 14 39627532 [A/G] NM_177452,NM_001079537 TRAPPC6B,TRAPPC6B EXON Missense_T75M,Missense_T75M exm1098022 14 39627533 [T/C] NM_177452,NM_001079537 TRAPPC6B,TRAPPC6B EXON Missense_T75A,Missense_T75A exm1098024 14 39627595 [A/T] NM_177452,NM_001079537 TRAPPC6B,TRAPPC6B EXON Missense_D54V,Missense_D54V exm1098047 14 39645745 [T/A] NM_002687 PNN EXON Missense_D67V exm1098053 14 39646666 [T/C] NM_002687 PNN EXON Missense_P102L exm1098075 14 39649781 [A/G] NM_002687 PNN EXON Missense_M290V exm1098077 14 39649802 [A/G] NM_002687 PNN EXON Missense_V297M exm1098078 14 39649827 [T/C] NM_002687 PNN EXON Missense_A305V exm1098081 14 39649895 [A/G] NM_002687 PNN EXON Missense_D328N exm1098085 14 39650036 [A/G] NM_002687 PNN EXON Missense_S375G exm1098088 14 39650139 [A/G] NM_002687 PNN EXON Missense_N409S exm1098092 14 39650175 [T/C] NM_002687 PNN EXON Missense_A421V exm1098094 14 39650234 [A/T] NM_002687 PNN EXON Missense_T441S exm1098095 14 39650261 [A/G] NM_002687 PNN EXON Missense_S450G exm1098101 14 39650489 [A/G] NM_002687 PNN EXON Missense_E526K exm1098103 14 39650523 [T/C] NM_002687 PNN EXON Missense_L537P exm1098109 14 39650676 [T/C] NM_002687 PNN EXON Missense_T588I exm1098118 14 39650814 [A/G] NM_002687 PNN EXON Missense_R634Q exm1098126 14 39650924 [A/G] NM_002687 PNN EXON Missense_S671G exm1098150 14 39709768 [A/G] NM_054024 MIA2 EXON Missense_G85R exm1098151 14 39709769 [A/G] NM_054024 MIA2 EXON Missense_G85E exm1098156 14 39716201 [A/G] NM_054024 MIA2 EXON Missense_I141M exm1098157 14 39716241 [T/C] NM_054024 MIA2 EXON Missense_Y155H exm1098159 14 39716260 [T/C] NM_054024 MIA2 EXON Missense_I161T exm1098162 14 39716401 [A/G] NM_054024 MIA2 EXON Missense_R208H exm1098165 14 39716424 [T/C] NM_054024 MIA2 EXON Missense_P216S exm1098167 14 39716526 [T/C] NM_054024 MIA2 EXON Missense_S250P exm1098174 14 39716716 [T/G] NM_054024 MIA2 EXON Missense_G313V exm1812539 14 39716787 [T/C] NM_054024 MIA2 EXON Missense_P337S exm1098177 14 39716808 [T/C] NM_054024 MIA2 EXON Missense_S344P exm1098180 14 39716830 [C/G] NM_054024 MIA2 EXON Missense_A351G exm1098190 14 39717009 [T/C] NM_054024 MIA2 EXON Missense_H411Y exm1098192 14 39717064 [T/C] NM_054024 MIA2 EXON Missense_T429M exm1098195 14 39717106 [A/C] NM_054024 MIA2 EXON Missense_P443Q exm1098197 14 39717124 [A/G] NM_054024 MIA2 EXON Missense_D449G exm1098199 14 39717167 [A/T] NM_054024 MIA2 EXON Missense_N463K exm1098202 14 39717264 [T/G] NM_054024 MIA2 EXON Nonsense_E496X exm1098203 14 39717265 [A/G] NM_054024 MIA2 EXON Missense_E496G exm1098204 14 39721979 [T/C] NM_054024 MIA2 EXON Missense_T532M exm1098207 14 39722023 [C/G] NM_054024 MIA2 EXON Missense_D547H exm1098212 14 39722059 [A/G] NM_054024 MIA2 EXON Missense_E559K exm1098213 14 39722089 [T/C] NM_054024 MIA2 EXON Missense_S569P exm1098219 14 39722294 [G/C] NM_054024 MIA2 EXON Missense_Q602H exm1098220 14 39722329 [A/G] NM_054024 MIA2 EXON Missense_D614G exm2222429 14 39722355 [A/G] NM_054024 MIA2 EXON Missense_I623V exm1098221 14 39722412 [T/C] NM_054024 MIA2 EXON Missense_P642S exm1098222 14 39722440 [A/C] NM_054024 MIA2 EXON Missense_T651K exm1098227 14 39736680 [T/C] NM_203354,NM_203356,NM_001247988,NM_001247989,NM_203355,NM_001247990,NM_005930 CTAGE5,CTAGE5,CTAGE5,CTAGE5,CTAGE5,CTAGE5,CTAGE5 EXON Silent,Silent,Silent,Missense_V6A,Missense_V6A,Silent,Missense_V6A exm1098233 14 39746192 [T/C] NM_203354,NM_203356,NM_001247988,NM_001247989,NM_203355,NM_001247990,NM_005930 CTAGE5,CTAGE5,CTAGE5,CTAGE5,CTAGE5,CTAGE5,CTAGE5 EXON Missense_P28S,Missense_P11S,Missense_P11S,Missense_P40S,Missense_P40S,Silent,Missense_P40S exm1098242 14 39748560 [T/G] NM_203354,NM_203356,NM_001247988,NM_001247989,NM_203355,NM_001247990,NM_005930 CTAGE5,CTAGE5,CTAGE5,CTAGE5,CTAGE5,CTAGE5,CTAGE5 EXON Missense_V60G,Missense_V43G,Missense_V43G,Missense_V72G,Missense_V72G,Silent,Missense_V72G exm1098250 14 39762575 [A/G] NM_203354,NM_203356,NM_001247988,NM_001247989,NM_203355,NM_001247990,NM_005930 CTAGE5,CTAGE5,CTAGE5,CTAGE5,CTAGE5,CTAGE5,CTAGE5 EXON Missense_Q150R,Missense_Q133R,Missense_Q133R,Missense_Q167R,Missense_Q162R,Missense_Q87R,Missense_Q162R exm1098251 14 39763208 [T/C] NM_203354,NM_203356,NM_001247988,NM_001247989,NM_203355,NM_001247990,NM_005930 CTAGE5,CTAGE5,CTAGE5,CTAGE5,CTAGE5,CTAGE5,CTAGE5 EXON Missense_A155V,Missense_A138V,Missense_A138V,Missense_A172V,Missense_A167V,Missense_A92V,Missense_A167V exm1098252 14 39763224 [T/G] NM_203354,NM_203356,NM_001247988,NM_001247989,NM_203355,NM_001247990,NM_005930 CTAGE5,CTAGE5,CTAGE5,CTAGE5,CTAGE5,CTAGE5,CTAGE5 EXON Missense_R160S,Missense_R143S,Missense_R143S,Missense_R177S,Missense_R172S,Missense_R97S,Missense_R172S exm1098254 14 39764138 [A/G] NM_203354,NM_203356,NM_001247988,NM_001247989,NM_203355,NM_001247990,NM_005930 CTAGE5,CTAGE5,CTAGE5,CTAGE5,CTAGE5,CTAGE5,CTAGE5 EXON Missense_T181A,Missense_T164A,Missense_T164A,Missense_T198A,Missense_T193A,Missense_T118A,Missense_T193A exm1098257 14 39764169 [A/G] NM_203354,NM_203356,NM_001247988,NM_001247989,NM_203355,NM_001247990,NM_005930 CTAGE5,CTAGE5,CTAGE5,CTAGE5,CTAGE5,CTAGE5,CTAGE5 EXON Missense_R191Q,Missense_R174Q,Missense_R174Q,Missense_R208Q,Missense_R203Q,Missense_R128Q,Missense_R203Q exm1098258 14 39764176 [G/C] NM_203354,NM_203356,NM_001247988,NM_001247989,NM_203355,NM_001247990,NM_005930 CTAGE5,CTAGE5,CTAGE5,CTAGE5,CTAGE5,CTAGE5,CTAGE5 EXON Missense_K193N,Missense_K176N,Missense_K176N,Missense_K210N,Missense_K205N,Missense_K130N,Missense_K205N exm1098259 14 39764231 [C/G] NM_203354,NM_203356,NM_001247988,NM_001247989,NM_203355,NM_001247990,NM_005930 CTAGE5,CTAGE5,CTAGE5,CTAGE5,CTAGE5,CTAGE5,CTAGE5 EXON Missense_Q212E,Missense_Q195E,Missense_Q195E,Missense_Q229E,Missense_Q224E,Missense_Q149E,Missense_Q224E exm1098266 14 39769143 [A/G] NM_203354,NM_203356,NM_001247988,NM_001247989,NM_203355,NM_001247990,NM_005930 CTAGE5,CTAGE5,CTAGE5,CTAGE5,CTAGE5,CTAGE5,CTAGE5 EXON Missense_K238E,Missense_K221E,Missense_K221E,Missense_K255E,Missense_K250E,Missense_K175E,Missense_K250E exm1098267 14 39769146 [C/G] NM_203354,NM_203356,NM_001247988,NM_001247989,NM_203355,NM_001247990,NM_005930 CTAGE5,CTAGE5,CTAGE5,CTAGE5,CTAGE5,CTAGE5,CTAGE5 EXON Missense_V239L,Missense_V222L,Missense_V222L,Missense_V256L,Missense_V251L,Missense_V176L,Missense_V251L exm1098292 14 39783985 [T/G] NM_203354,NM_203356,NM_001247988,NM_001247989,NM_203355,NM_001247990,NM_005930 CTAGE5,CTAGE5,CTAGE5,CTAGE5,CTAGE5,CTAGE5,CTAGE5 EXON Missense_I434M,Missense_I417M,Missense_I417M,Missense_I451M,Missense_I446M,Missense_I371M,Missense_I446M exm2251782 14 39788461 [T/C] NM_203354,NM_203356,NM_001247988,NM_001247989,NM_203355,NM_001247990,NM_005930 CTAGE5,CTAGE5,CTAGE5,CTAGE5,CTAGE5,CTAGE5,CTAGE5 EXON Synonymous_Y491Y,Synonymous_Y474Y,Synonymous_Y474Y,Synonymous_Y508Y,Synonymous_Y503Y,Synonymous_Y428Y,Synonymous_Y503Y exm1098306 14 39790149 [C/G] NM_203354,NM_203356,NM_001247988,NM_001247989,NM_203355,NM_001247990,NM_005930 CTAGE5,CTAGE5,CTAGE5,CTAGE5,CTAGE5,CTAGE5,CTAGE5 EXON Missense_P509A,Missense_P492A,Silent,Missense_P526A,Silent,Missense_P446A,Missense_P521A exm1098320 14 39796221 [T/C] NM_203354,NM_203356,NM_001247988,NM_001247989,NM_203355,NM_001247990,NM_005930 CTAGE5,CTAGE5,CTAGE5,CTAGE5,CTAGE5,CTAGE5,CTAGE5 EXON Missense_P597L,Missense_P580L,Missense_P537L,Missense_P614L,Missense_P566L,Missense_P534L,Missense_P609L exm1098335 14 39818076 [A/G] NM_203354,NM_203356,NM_001247988,NM_001247989,NM_203355,NM_001247990,NM_005930 CTAGE5,CTAGE5,CTAGE5,CTAGE5,CTAGE5,CTAGE5,CTAGE5 EXON Missense_R703G,Missense_R686G,Missense_R643G,Missense_R720G,Missense_R672G,Missense_R640G,Missense_R715G exm1098342 14 39818145 [A/G] NM_203354,NM_203356,NM_001247988,NM_001247989,NM_203355,NM_001247990,NM_005930 CTAGE5,CTAGE5,CTAGE5,CTAGE5,CTAGE5,CTAGE5,CTAGE5 EXON Missense_G726R,Missense_G709R,Missense_G666R,Missense_G743R,Missense_G695R,Missense_G663R,Missense_G738R exm2251783 14 39818591 [T/C] NM_203354,NM_203356,NM_001247988,NM_001247989,NM_203355,NM_001247990,NM_005930 CTAGE5,CTAGE5,CTAGE5,CTAGE5,CTAGE5,CTAGE5,CTAGE5 Silent,Silent,Silent,Silent,Silent,Silent,Silent exm1098345 14 39819314 [A/G] NM_203354,NM_203356,NM_001247988,NM_001247989,NM_203355,NM_001247990,NM_005930 CTAGE5,CTAGE5,CTAGE5,CTAGE5,CTAGE5,CTAGE5,CTAGE5 EXON Missense_Y742C,Missense_Y725C,Missense_Y682C,Missense_Y759C,Missense_Y711C,Missense_Y679C,Missense_Y754C exm1098358 14 39868930 [T/G] NM_203301 FBXO33 EXON Missense_K486N exm1098361 14 39870386 [T/C] NM_203301 FBXO33 EXON Missense_I464V exm1098370 14 39870733 [T/G] NM_203301 FBXO33 EXON Missense_H348P exm1098375 14 39870886 [A/G] NM_203301 FBXO33 EXON Missense_I297T exm1098381 14 39870946 [A/G] NM_203301 FBXO33 EXON Missense_A277V exm1098383 14 39871004 [G/C] NM_203301 FBXO33 EXON Missense_G258R exm2222431 14 39900806 [G/C] NM_203301 FBXO33 EXON Missense_E187D exm1098401 14 39901012 [A/G] NM_203301 FBXO33 EXON Missense_P119S exm1098403 14 39901099 [G/C] NM_203301 FBXO33 EXON Missense_R90G exm1098411 14 39901339 [A/G] NM_203301 FBXO33 EXON Missense_P10S exm1098412 14 39901340 [A/C] NM_203301 FBXO33 EXON Missense_Q9H exm2251784 14 40329432 [A/C] exm2272165 14 40388314 [T/C] exm-rs1000203 14 40896108 [T/C] exm2267646 14 41113499 [A/G] exm2272166 14 41522215 [T/G] exm2267647 14 41855338 [A/G] exm1098418 14 42355844 [T/C] NM_152447 LRFN5 EXON Missense_F6L exm1098424 14 42356069 [T/A] NM_152447 LRFN5 EXON Missense_T81S exm1098439 14 42356930 [G/C] NM_152447 LRFN5 EXON Missense_Q368E exm1098455 14 42360932 [T/C] NM_152447 LRFN5 EXON Missense_S622F exm1098458 14 42361009 [A/G] NM_152447 LRFN5 EXON Missense_G648S exm-rs2154294 14 42655275 [A/G] exm2267703 14 42698282 [A/G] exm-rs10498365 14 42700527 [A/G] exm2272074 14 42731966 [T/C] exm2251790 14 43337624 [A/G] exm2267649 14 43960993 [A/G] exm2264551 14 44266450 [A/C] exm2267650 14 44319485 [A/G] exm2251794 14 44836538 [T/C] exm1098483 14 44973719 [T/G] NM_032135 FSCB EXON Missense_E824D exm1098485 14 44973730 [A/G] NM_032135 FSCB EXON Missense_R821C exm1098489 14 44973867 [A/G] NM_032135 FSCB EXON Missense_S775L exm1813024 14 44973943 [T/C] NM_032135 FSCB EXON Missense_E750K exm1098494 14 44974051 [T/C] NM_032135 FSCB EXON Missense_V714I exm1098500 14 44974137 [A/G] NM_032135 FSCB EXON Missense_L685P exm1098526 14 44974750 [T/C] NM_032135 FSCB EXON Missense_E481K exm1098539 14 44974894 [A/G] NM_032135 FSCB EXON Missense_P433S exm1098540 14 44974922 [T/A] NM_032135 FSCB EXON Missense_D423E exm1098541 14 44974966 [A/G] NM_032135 FSCB EXON Missense_P409S exm1098542 14 44974969 [T/C] NM_032135 FSCB EXON Missense_A408T exm1098545 14 44975017 [T/C] NM_032135 FSCB EXON Missense_A392T exm1098547 14 44975037 [T/C] NM_032135 FSCB EXON Missense_R385Q exm1098548 14 44975038 [A/G] NM_032135 FSCB EXON Missense_R385W exm1098549 14 44975052 [A/G] NM_032135 FSCB EXON Missense_L380P exm1098551 14 44975071 [T/C] NM_032135 FSCB EXON Missense_K374E exm1098554 14 44975089 [G/C] NM_032135 FSCB EXON Missense_L368V exm1098558 14 44975122 [G/C] NM_032135 FSCB EXON Missense_E357Q exm1098560 14 44975149 [C/G] NM_032135 FSCB EXON Missense_A348P exm1098569 14 44975262 [A/G] NM_032135 FSCB EXON Missense_A310V exm1098578 14 44975349 [A/G] NM_032135 FSCB EXON Missense_A281V exm1098583 14 44975439 [T/C] NM_032135 FSCB EXON Missense_K251R exm1098590 14 44975511 [A/G] NM_032135 FSCB EXON Missense_P227L exm1098594 14 44975596 [A/G] NM_032135 FSCB EXON Nonsense_Q199X exm1098595 14 44975606 [T/G] NM_032135 FSCB EXON Missense_H195Q exm1098600 14 44975728 [T/G] NM_032135 FSCB EXON Missense_Q155K exm1098601 14 44975760 [T/C] NM_032135 FSCB EXON Missense_N144S exm1098602 14 44975771 [T/C] NM_032135 FSCB EXON Nonsense_W140X exm1098606 14 44975836 [A/G] NM_032135 FSCB EXON Missense_P119S exm1098611 14 44975971 [A/G] NM_032135 FSCB EXON Nonsense_Q74X exm2267651 14 45081126 [A/G] exm1098621 14 45369714 [A/G] NM_001017923 C14orf28 EXON Missense_V26I exm1098623 14 45369754 [A/G] NM_001017923 C14orf28 EXON Missense_R39H exm1098633 14 45370122 [A/G] NM_001017923 C14orf28 EXON Missense_T162A exm1098635 14 45372415 [T/C] NM_001017923 C14orf28 EXON Missense_P177L exm1098639 14 45373684 [T/C] NM_001017923 C14orf28 EXON Missense_S234F exm1098649 14 45374747 [T/G] NM_001017923 C14orf28 EXON Missense_E309D exm1098660 14 45400573 [A/C] NM_017658 KLHL28 EXON Missense_Q505H exm1098663 14 45400668 [T/C] NM_017658 KLHL28 EXON Missense_V474M exm1813057 14 45400736 [T/C] NM_017658 KLHL28 EXON Missense_R451H exm1098667 14 45403373 [T/C] NM_017658 KLHL28 EXON Missense_V430I exm1098672 14 45403454 [T/C] NM_017658 KLHL28 EXON Missense_V403I exm1098673 14 45403459 [T/G] NM_017658 KLHL28 EXON Missense_Q401P exm1098680 14 45403679 [T/C] NM_017658 KLHL28 EXON Missense_V328I exm1098681 14 45403699 [A/C] NM_017658 KLHL28 EXON Missense_R321L exm1098688 14 45414389 [T/C] NM_017658 KLHL28 EXON Missense_R248H exm1098689 14 45414390 [A/G] NM_017658 KLHL28 EXON Missense_R248C exm1098697 14 45414662 [C/G] NM_017658 KLHL28 EXON Missense_T157S exm1098710 14 45431637 [T/C] NM_015091 FAM179B EXON Missense_P5S exm1098712 14 45431698 [A/G] NM_015091 FAM179B EXON Missense_R25H exm1813066 14 45431760 [A/C] NM_015091 FAM179B EXON Missense_K46Q exm1813068 14 45432003 [T/C] NM_015091 FAM179B EXON Missense_L127F exm1098728 14 45432303 [A/G] NM_015091 FAM179B EXON Missense_D227N exm1098735 14 45432466 [A/G] NM_015091 FAM179B EXON Missense_Q281R exm1098746 14 45432738 [A/G] NM_015091 FAM179B EXON Missense_V372I exm1098754 14 45432991 [T/C] NM_015091 FAM179B EXON Missense_M456T exm1098761 14 45433155 [C/G] NM_015091 FAM179B EXON Missense_L511V exm1098766 14 45433309 [T/G] NM_015091 FAM179B EXON Missense_G562V exm1098770 14 45433350 [A/G] NM_015091 FAM179B EXON Missense_K576E exm2267704 14 45458324 [A/G] NM_015091 FAM179B Silent exm1098780 14 45465064 [T/G] NM_015091 FAM179B EXON Missense_S721I exm1813079 14 45468613 [T/C] NM_015091 FAM179B EXON Missense_L751F exm1098785 14 45473265 [A/G] NM_015091 FAM179B EXON Synonymous_V780V exm1098794 14 45473543 [T/C] NM_015091 FAM179B EXON Missense_S873L exm1098796 14 45473549 [A/G] NM_015091 FAM179B EXON Missense_D875G exm1098801 14 45475265 [T/C] NM_015091 FAM179B EXON Missense_S900L exm1098804 14 45475329 [A/C] NM_015091 FAM179B EXON Missense_S921R exm1098806 14 45475409 [A/G] NM_015091 FAM179B EXON Missense_D948G exm1098821 14 45481254 [A/T] NM_015091 FAM179B EXON Missense_I1072F exm1098828 14 45496504 [A/G] NM_015091 FAM179B EXON Missense_V1111I exm1098829 14 45496534 [A/G] NM_015091 FAM179B EXON Missense_T1121A exm1098830 14 45496564 [A/G] NM_015091 FAM179B EXON Missense_E1131K exm1098844 14 45501454 [G/C] NM_015091 FAM179B EXON Missense_Q1229H exm1098853 14 45512923 [A/T] NM_015091 FAM179B EXON Missense_C1283S exm1098857 14 45513970 [T/C] NM_015091 FAM179B EXON Missense_S1351P exm1098864 14 45521730 [T/C] NM_015091 FAM179B EXON Missense_Y1416H exm1098867 14 45523641 [T/G] NM_015091 FAM179B EXON Missense_G1430V exm1098870 14 45523694 [A/G] NM_015091 FAM179B EXON Missense_S1448G exm1098880 14 45537805 [T/C] NM_015091 FAM179B EXON Missense_A1590V exm1098884 14 45542529 [T/C] NM_015091 FAM179B EXON Missense_P1643L exm1813117 14 45564466 [T/A] NM_017922 PRPF39 EXON Missense_E8D exm1098891 14 45564480 [A/G] NM_017922 PRPF39 EXON Missense_S13N exm1098898 14 45564584 [T/C] NM_017922 PRPF39 EXON Missense_S48P exm1098910 14 45565408 [A/G] NM_017922 PRPF39 EXON Missense_D143N exm1098912 14 45566100 [A/G] NM_017922 PRPF39 EXON Missense_R154Q exm1098915 14 45566201 [A/G] NM_017922 PRPF39 EXON Missense_I188V exm1098917 14 45571811 [A/G] NM_017922 PRPF39 EXON Missense_N217D exm1098929 14 45579316 [A/G] NM_017922 PRPF39 EXON Missense_N399S exm1098939 14 45584099 [A/C] NM_017922 PRPF39 EXON Missense_P665T exm1098941 14 45585426 [T/G] NM_002013 FKBP3 EXON Missense_E217A exm1098946 14 45587316 [C/G] NM_002013 FKBP3 EXON Missense_L179V exm1098951 14 45590822 [A/C] NM_002013 FKBP3 EXON Missense_G107V exm1098971 14 45605287 [A/G] NM_020937 FANCM EXON Missense_R18Q exm1098975 14 45605397 [A/G] NM_020937 FANCM EXON Missense_D55N exm1098976 14 45605405 [C/G] NM_020937 FANCM EXON Missense_L57F exm1813154 14 45605413 [T/C] NM_020937 FANCM EXON Missense_A60V exm1098981 14 45605463 [A/G] NM_020937 FANCM EXON Missense_T77A exm1098983 14 45605503 [T/C] NM_020937 FANCM EXON Missense_P90L exm1098992 14 45606287 [T/C] NM_020937 FANCM EXON Missense_S175F exm1098993 14 45606290 [T/C] NM_020937 FANCM EXON Missense_T176I exm1098994 14 45606301 [A/G] NM_020937 FANCM EXON Missense_I180V exm1098998 14 45606387 [A/G] NM_020937 FANCM EXON Missense_I208M exm1099002 14 45618040 [A/G] NM_020937 FANCM EXON Missense_A254T exm1099003 14 45618055 [A/G] NM_020937 FANCM EXON Missense_I259V exm1099010 14 45620607 [A/C] NM_020937 FANCM EXON Missense_E309A exm1099013 14 45620721 [T/C] NM_020937 FANCM EXON Missense_P347L exm1099020 14 45623953 [T/C] NM_020937 FANCM EXON Missense_Y413H exm1099026 14 45624639 [T/C] NM_020937 FANCM EXON Missense_I458T exm1099035 14 45628478 [C/G] NM_020937 FANCM EXON Missense_L526V exm1099040 14 45633647 [A/G] NM_020937 FANCM EXON Missense_D556G exm1099047 14 45633721 [T/C] NM_020937 FANCM EXON Missense_R581C exm1099049 14 45633740 [T/C] NM_020937 FANCM EXON Missense_I587T exm1099053 14 45636213 [G/C] NM_020937 FANCM EXON Missense_Q617E exm1099056 14 45636328 [A/G] NM_020937 FANCM EXON Missense_N655S exm1813175 14 45642287 [A/G] NM_020937 FANCM EXON Synonymous_Q730Q exm1099063 14 45642337 [A/G] NM_020937 FANCM EXON Missense_H747R exm2276319 14 45642364 [A/G] NM_020937 FANCM EXON Missense_R756H exm1099066 14 45642394 [A/G] NM_020937 FANCM EXON Missense_E766G exm1099072 14 45644409 [A/G] NM_020937 FANCM EXON Missense_I818V exm1099075 14 45644474 [T/G] NM_020937 FANCM EXON Missense_I839M exm1099079 14 45644589 [T/G] NM_020937 FANCM EXON Missense_V878L exm1099086 14 45644706 [A/G] NM_020937 FANCM EXON Missense_I917V exm1813185 14 45644712 [A/G] NM_020937 FANCM EXON Missense_E919K exm1099089 14 45644766 [T/C] NM_020937 FANCM EXON Missense_L937F exm1099090 14 45644816 [A/C] NM_020937 FANCM EXON Missense_K953N exm1099093 14 45644953 [T/C] NM_020937 FANCM EXON Missense_P999L exm1099095 14 45644997 [T/G] NM_020937 FANCM EXON Missense_G1014C exm1099117 14 45645715 [A/G] NM_020937 FANCM EXON Missense_N1253S exm1099121 14 45645820 [A/G] NM_020937 FANCM EXON Missense_N1288S exm1099122 14 45645877 [A/G] NM_020937 FANCM EXON Missense_Y1307C exm1099124 14 45645949 [T/C] NM_020937 FANCM EXON Missense_P1331L exm1099125 14 45645955 [A/C] NM_020937 FANCM EXON Missense_Q1333P exm1099127 14 45646041 [A/G] NM_020937 FANCM EXON Missense_D1362N exm1099128 14 45646063 [A/T] NM_020937 FANCM EXON Missense_N1369I exm1099130 14 45646104 [T/G] NM_020937 FANCM EXON Missense_Y1383D exm1099144 14 45650888 [T/C] NM_020937 FANCM EXON Missense_R1456C exm1099145 14 45650900 [A/G] NM_020937 FANCM EXON Missense_I1460V exm1099153 14 45654467 [A/C] NM_020937 FANCM EXON Missense_E1521D exm1099156 14 45654531 [T/C] NM_020937 FANCM EXON Missense_L1543F exm1099157 14 45654570 [A/G] NM_020937 FANCM EXON Missense_I1556V exm1813210 14 45657020 [A/G] NM_020937 FANCM EXON Missense_R1570H exm1099170 14 45658024 [T/C] NM_020937 FANCM EXON Missense_T1600I exm1099173 14 45658156 [A/G] NM_020937 FANCM EXON Missense_R1644Q exm1813215 14 45658158 [T/C] NM_020937 FANCM EXON Missense_R1645C exm1099179 14 45658211 [T/G] NM_020937 FANCM EXON Missense_K1662N exm1099183 14 45658326 [T/C] NM_020937 FANCM EXON Nonsense_Q1701X exm1099185 14 45658333 [A/G] NM_020937 FANCM EXON Missense_H1703R exm1099187 14 45658366 [T/C] NM_020937 FANCM EXON Missense_A1714V exm2251798 14 45658430 [A/G] NM_020937 FANCM EXON Synonymous_S1735S exm1099191 14 45658449 [A/G] NM_020937 FANCM EXON Missense_I1742V exm1099196 14 45665468 [C/G] NM_020937 FANCM EXON Missense_P1812A exm1099197 14 45665474 [A/G] NM_020937 FANCM EXON Missense_E1814K exm1099202 14 45665661 [A/G] NM_020937 FANCM EXON Missense_N1876S exm1099203 14 45665690 [T/C] NM_020937 FANCM EXON Missense_H1886Y exm1099206 14 45667921 [T/C] NM_020937 FANCM EXON Nonsense_R1931X exm1099208 14 45667962 [T/G] NM_020937 FANCM EXON Missense_L1944F exm1099209 14 45667978 [T/G] NM_020937 FANCM EXON Missense_L1950V exm1099224 14 45669207 [T/C] NM_020937 FANCM EXON Missense_I2048T exm1099227 14 45673341 [A/G] NM_018353 MIS18BP1 EXON Missense_Y1124H exm1099230 14 45673407 [C/G] NM_018353 MIS18BP1 EXON Missense_E1102Q exm1099248 14 45686268 [A/T] NM_018353 MIS18BP1 EXON Missense_H986L exm1813239 14 45686317 [T/C] NM_018353 MIS18BP1 EXON Missense_R970G exm1099253 14 45687647 [A/G] NM_018353 MIS18BP1 EXON Missense_S894P exm1099255 14 45687651 [A/C] NM_018353 MIS18BP1 EXON Missense_F892L exm1099259 14 45693239 [G/C] NM_018353 MIS18BP1 EXON Missense_E851Q exm1099262 14 45693250 [A/C] NM_018353 MIS18BP1 EXON Missense_G847V exm1099264 14 45693275 [T/C] NM_018353 MIS18BP1 EXON Missense_V839I exm1099265 14 45693307 [A/T] NM_018353 MIS18BP1 EXON Missense_F828Y exm1099266 14 45693341 [A/C] NM_018353 MIS18BP1 EXON Missense_L817V exm1099272 14 45693605 [A/G] NM_018353 MIS18BP1 EXON Missense_S729P exm1099278 14 45693784 [T/A] NM_018353 MIS18BP1 EXON Missense_N669I exm1099282 14 45693929 [T/C] NM_018353 MIS18BP1 EXON Missense_V621I exm1099283 14 45695978 [T/G] NM_018353 MIS18BP1 EXON Missense_T603K exm1099285 14 45696037 [T/G] NM_018353 MIS18BP1 EXON Missense_E583D exm1099287 14 45696913 [T/C] NM_018353 MIS18BP1 EXON Missense_V567I exm1099288 14 45696918 [T/A] NM_018353 MIS18BP1 EXON Missense_D565V exm1099289 14 45696937 [T/C] NM_018353 MIS18BP1 EXON Missense_T559A exm1099290 14 45696948 [T/C] NM_018353 MIS18BP1 EXON Missense_Q555R exm1099301 14 45700409 [T/C] NM_018353 MIS18BP1 EXON Missense_R510Q exm1099302 14 45700442 [T/C] NM_018353 MIS18BP1 EXON Missense_R499H exm1099315 14 45711316 [T/C] NM_018353 MIS18BP1 EXON Missense_R355Q exm1099317 14 45711340 [C/G] NM_018353 MIS18BP1 EXON Missense_P347R exm1099321 14 45711391 [A/G] NM_018353 MIS18BP1 EXON Missense_T330I exm1099322 14 45711452 [T/C] NM_018353 MIS18BP1 EXON Missense_T310A exm1099325 14 45711535 [T/G] NM_018353 MIS18BP1 EXON Missense_N282T exm1099332 14 45711638 [T/C] NM_018353 MIS18BP1 EXON Missense_K248E exm1099338 14 45711988 [A/C] NM_018353 MIS18BP1 EXON Missense_A212S exm1099339 14 45712000 [C/G] NM_018353 MIS18BP1 EXON Missense_Q208E exm1099340 14 45712005 [T/C] NM_018353 MIS18BP1 EXON Missense_C206Y exm1099346 14 45716000 [A/G] NM_018353 MIS18BP1 EXON Missense_C164R exm1099356 14 45716136 [C/G] NM_018353 MIS18BP1 EXON Missense_M118I exm1099357 14 45716152 [T/C] NM_018353 MIS18BP1 EXON Missense_K113R exm1099365 14 45716366 [T/C] NM_018353 MIS18BP1 EXON Missense_V42I exm1099369 14 45716411 [T/C] NM_018353 MIS18BP1 EXON Missense_D27N exm2251799 14 45736539 [T/C] exm2267705 14 45822243 [A/G] exm2267706 14 46728896 [A/G] exm2251804 14 46919042 [T/C] exm1099375 14 47120389 [A/G] NM_080746 RPL10L EXON Missense_M184T exm1099376 14 47120393 [A/C] NM_080746 RPL10L EXON Missense_D183Y exm1099377 14 47120402 [T/C] NM_080746 RPL10L EXON Missense_E180K exm1099384 14 47120549 [A/T] NM_080746 RPL10L EXON Missense_I131F exm1813342 14 47120557 [T/C] NM_080746 RPL10L EXON Missense_R128Q exm1099406 14 47120939 [T/C] NM_080746 RPL10L EXON Missense_M1V exm2272078 14 47309496 [T/G] NM_001113498,NM_182830 MDGA2,MDGA2 EXON Silent,Silent exm1099413 14 47311217 [T/C] NM_001113498,NM_182830 MDGA2,MDGA2 EXON Missense_V999I,Missense_V701I exm1099417 14 47315071 [T/C] NM_001113498,NM_182830 MDGA2,MDGA2 EXON Missense_I963V,Missense_I665V exm1813366 14 47343265 [T/C] NM_001113498,NM_182830 MDGA2,MDGA2 EXON Missense_R859H,Missense_R561H exm1099434 14 47351412 [T/G] NM_001113498,NM_182830 MDGA2,MDGA2 EXON Missense_R751S,Missense_R453S exm-rs12883384 14 47403684 [A/C] NM_001113498,NM_182830 MDGA2,MDGA2 Silent,Silent exm1099437 14 47426637 [A/C] NM_001113498,NM_182830 MDGA2,MDGA2 EXON Missense_V677F,Missense_V379F exm1099438 14 47426651 [T/C] NM_001113498,NM_182830 MDGA2,MDGA2 EXON Missense_N672S,Missense_N374S exm1099441 14 47426686 [G/C] NM_001113498,NM_182830 MDGA2,MDGA2 EXON Missense_Q660H,Missense_Q362H exm1099448 14 47426799 [T/C] NM_001113498,NM_182830 MDGA2,MDGA2 EXON Missense_D623N,Missense_D325N exm2267707 14 47428100 [A/G] NM_001113498,NM_182830 MDGA2,MDGA2 Silent,Silent exm1099454 14 47504277 [T/G] NM_001113498,NM_182830 MDGA2,MDGA2 EXON Missense_T586P,Missense_T288P exm1099458 14 47504347 [A/C] NM_001113498,NM_182830 MDGA2,MDGA2 EXON Missense_M562I,Missense_M264I exm1813390 14 47566114 [T/C] NM_001113498,NM_182830 MDGA2,MDGA2 EXON Missense_I380V,Missense_I82V exm1099480 14 47566126 [T/C] NM_001113498,NM_182830 MDGA2,MDGA2 EXON Missense_T376A,Missense_T78A exm2251805 14 47566145 [A/G] NM_001113498,NM_182830 MDGA2,MDGA2 EXON Synonymous_I369I,Synonymous_I71I exm1099491 14 47600946 [A/G] NM_001113498,NM_182830 MDGA2,MDGA2 EXON Missense_M299T,Missense_M1T exm1099492 14 47600951 [A/T] NM_001113498,NM_182830 MDGA2,MDGA2 EXON Missense_D297E,Silent exm1099503 14 47770697 [A/G] NM_001113498,NM_182830 MDGA2,MDGA2 EXON Missense_R113C,Silent exm-rs7159841 14 47863835 [T/C] NM_001113498 MDGA2 Silent exm2267653 14 47950171 [A/G] NM_001113498 MDGA2 Silent exm1099506 14 48143771 [A/C] NM_001113498 MDGA2 EXON Missense_V77L exm2222457 14 48143852 [T/C] NM_001113498 MDGA2 EXON Missense_G50S exm2251809 14 48473724 [T/C] exm-rs7151223 14 48564956 [A/G] exm-rs1584157 14 48570466 [A/G] exm-rs10139931 14 48597644 [A/G] exm2251810 14 48801744 [T/C] exm-rs4409996 14 48981279 [T/C] exm2260328 14 48997206 [T/C] exm-rs2352904 14 49372801 [A/C] exm2267655 14 49622784 [A/G] exm2260329 14 49904851 [T/C] exm2273514 14 50044392 [T/C] NM_001030001 RPS29 EXON Silent exm1099535 14 50069088 [T/C] NM_152329,NR_037792,NR_037793,NM_203467 LRR1,LRR1,LRR1,LRR1 EXON Synonymous_L62L,Silent,Silent,Synonymous_L62L exm1813432 14 50069160 [C/G] NM_152329,NR_037792,NR_037793,NM_203467 LRR1,LRR1,LRR1,LRR1 EXON Missense_P86A,Silent,Silent,Missense_P86A exm1099540 14 50074122 [T/A] NM_152329,NR_037792,NR_037793,NM_203467 LRR1,LRR1,LRR1,LRR1 EXON Missense_I96N,Silent,Silent,Silent exm1099543 14 50074241 [A/G] NM_152329,NR_037792,NR_037793,NM_203467 LRR1,LRR1,LRR1,LRR1 EXON Missense_T136A,Silent,Silent,Silent exm1099545 14 50074281 [T/G] NM_152329,NR_037792,NR_037793,NM_203467 LRR1,LRR1,LRR1,LRR1 EXON Missense_S149I,Silent,Silent,Silent exm1099547 14 50074338 [A/G] NM_152329,NR_037792,NR_037793,NM_203467 LRR1,LRR1,LRR1,LRR1 EXON Missense_R168Q,Silent,Silent,Silent exm1099548 14 50074350 [A/G] NM_152329,NR_037792,NR_037793,NM_203467 LRR1,LRR1,LRR1,LRR1 EXON Missense_R172H,Silent,Silent,Silent exm1099556 14 50074502 [A/G] NM_152329,NR_037792,NR_037793,NM_203467 LRR1,LRR1,LRR1,LRR1 EXON Missense_T223A,Silent,Silent,Silent exm1099558 14 50074520 [T/C] NM_152329,NR_037792,NR_037793,NM_203467 LRR1,LRR1,LRR1,LRR1 EXON Missense_R229W,Silent,Silent,Silent exm1099563 14 50074658 [T/C] NM_152329,NR_037792,NR_037793,NM_203467 LRR1,LRR1,LRR1,LRR1 EXON Missense_R275C,Silent,Silent,Silent exm1099570 14 50074820 [T/C] NM_152329,NR_037792,NR_037793,NM_203467 LRR1,LRR1,LRR1,LRR1 EXON Nonsense_R329X,Silent,Silent,Silent exm1099572 14 50074826 [A/G] NM_152329,NR_037792,NR_037793,NM_203467 LRR1,LRR1,LRR1,LRR1 EXON Missense_I331V,Silent,Silent,Silent exm1099573 14 50080982 [A/G] NM_152329,NR_037792,NR_037793,NM_203467 LRR1,LRR1,LRR1,LRR1 EXON Missense_Y338C,Silent,Silent,Missense_I97M exm1099576 14 50080993 [A/G] NM_152329,NR_037792,NR_037793,NM_203467 LRR1,LRR1,LRR1,LRR1 EXON Missense_I342V,Silent,Silent,Missense_Y101C exm1099577 14 50081022 [A/G] NM_152329,NR_037792,NR_037793,NM_203467 LRR1,LRR1,LRR1,LRR1 EXON Synonymous_L351L,Silent,Silent,Missense_G111R exm1099581 14 50081074 [C/G] NM_152329,NR_037792,NR_037793,NM_203467 LRR1,LRR1,LRR1,LRR1 EXON Missense_Q369E,Silent,Silent,Nonsense_S128X exm1099582 14 50081124 [A/G] NM_152329,NR_037792,NR_037793,NM_203467 LRR1,LRR1,LRR1,LRR1 EXON Synonymous_L385L,Silent,Silent,Missense_S145G exm1099602 14 50088085 [T/G] NM_002408 MGAT2 EXON Missense_K33N exm1099603 14 50088215 [T/C] NM_002408 MGAT2 EXON Missense_P77S exm1099604 14 50088218 [A/G] NM_002408 MGAT2 EXON Missense_A78T exm1099624 14 50088719 [G/C] NM_002408 MGAT2 EXON Missense_V245L exm1099641 14 50089223 [A/G] NM_002408 MGAT2 EXON Missense_I413V exm1099653 14 50092393 [A/G] NM_018139,NM_001083908 DNAAF2,DNAAF2 EXON Missense_T794M,Missense_T746M exm1099656 14 50092471 [T/C] NM_018139,NM_001083908 DNAAF2,DNAAF2 EXON Missense_D768G,Missense_D720G exm1099662 14 50092598 [T/C] NM_018139,NM_001083908 DNAAF2,DNAAF2 EXON Missense_T726A,Missense_T678A exm1813473 14 50100181 [A/C] NM_018139,NM_001083908 DNAAF2,DNAAF2 EXON Missense_A563S,Missense_A563S exm1099680 14 50100273 [T/C] NM_018139,NM_001083908 DNAAF2,DNAAF2 EXON Missense_E532G,Missense_E532G exm1099681 14 50100283 [A/G] NM_018139,NM_001083908 DNAAF2,DNAAF2 EXON Nonsense_Q529X,Nonsense_Q529X exm1099683 14 50100300 [A/G] NM_018139,NM_001083908 DNAAF2,DNAAF2 EXON Missense_P523L,Missense_P523L exm1099689 14 50100405 [T/C] NM_018139,NM_001083908 DNAAF2,DNAAF2 EXON Missense_G488E,Missense_G488E exm1099690 14 50100409 [A/G] NM_018139,NM_001083908 DNAAF2,DNAAF2 EXON Missense_R487C,Missense_R487C exm1099697 14 50100462 [T/C] NM_018139,NM_001083908 DNAAF2,DNAAF2 EXON Missense_C469Y,Missense_C469Y exm1099698 14 50100463 [T/A] NM_018139,NM_001083908 DNAAF2,DNAAF2 EXON Missense_C469S,Missense_C469S exm1099700 14 50100501 [A/G] NM_018139,NM_001083908 DNAAF2,DNAAF2 EXON Missense_P456L,Missense_P456L exm1099709 14 50100886 [T/C] NM_018139,NM_001083908 DNAAF2,DNAAF2 EXON Missense_D328N,Missense_D328N exm1099738 14 50101682 [G/C] NM_018139,NM_001083908 DNAAF2,DNAAF2 EXON Missense_E62D,Missense_E62D exm1099739 14 50101724 [T/G] NM_018139,NM_001083908 DNAAF2,DNAAF2 EXON Missense_N48K,Missense_N48K exm1099751 14 50116991 [T/C] NM_002692,NM_001197330,NM_001197331 POLE2,POLE2,POLE2 EXON Missense_I497V,Missense_I471V,Missense_I497V exm1099755 14 50117066 [A/G] NM_002692,NM_001197330,NM_001197331 POLE2,POLE2,POLE2 EXON Missense_Y472H,Missense_Y446H,Missense_Y472H exm1099756 14 50117114 [C/G] NM_002692,NM_001197330,NM_001197331 POLE2,POLE2,POLE2 EXON Missense_L456V,Missense_L430V,Missense_L456V exm1099770 14 50121532 [A/G] NM_002692,NM_001197330,NM_001197331 POLE2,POLE2,POLE2 EXON Missense_I348T,Missense_I322T,Missense_I348T exm1099778 14 50122494 [T/G] NM_002692,NM_001197330,NM_001197331 POLE2,POLE2,POLE2 EXON Missense_L275I,Missense_L249I,Missense_L275I exm1099799 14 50136285 [A/G] NM_002692,NM_001197330,NM_001197331 POLE2,POLE2,POLE2 EXON Missense_P150L,Missense_P124L,Missense_P150L exm1099805 14 50141140 [T/G] NM_002692,NM_001197330,NM_001197331 POLE2,POLE2,POLE2 EXON Missense_H84P,Silent,Missense_H84P exm1099807 14 50146472 [G/C] NM_002692,NM_001197330,NM_001197331 POLE2,POLE2,POLE2 EXON Missense_Q72H,Missense_Q72H,Missense_Q72H exm1099815 14 50154887 [A/G] NM_002692,NM_001197330,NM_001197331 POLE2,POLE2,POLE2 EXON Missense_S12F,Missense_S12F,Missense_S12F exm1099824 14 50175886 [C/G] NM_172193 KLHDC1 EXON Missense_D36H exm1099836 14 50190592 [A/G] NM_172193 KLHDC1 EXON Synonymous_R135R exm1099839 14 50190653 [A/G] NM_172193 KLHDC1 EXON Missense_V156I exm2251812 14 50192257 [A/G] NM_172193 KLHDC1 Silent exm1099844 14 50195644 [A/G] NM_172193 KLHDC1 EXON Missense_G190S exm1099846 14 50195671 [A/G] NM_172193 KLHDC1 EXON Missense_A199T exm1099847 14 50195678 [T/C] NM_172193 KLHDC1 EXON Missense_T201I exm1099853 14 50196233 [A/G] NM_172193 KLHDC1 EXON Missense_Y226C exm2222467 14 50199486 [A/G] NM_172193 KLHDC1 EXON Missense_D259N exm1099868 14 50218475 [T/G] NM_172193 KLHDC1 EXON Missense_W402C exm1099870 14 50235205 [A/G] NM_014315 KLHDC2 EXON Missense_D7N exm2251813 14 50235297 [T/C] NM_014315 KLHDC2 EXON Synonymous_A37A exm1099882 14 50244609 [T/C] NM_014315 KLHDC2 EXON Missense_I135T exm1099886 14 50244651 [G/C] NM_014315 KLHDC2 EXON Missense_G149A exm1813553 14 50244662 [T/C] NM_014315 KLHDC2 EXON Missense_Y153H exm1099894 14 50246320 [T/C] NM_014315 KLHDC2 EXON Missense_A214V exm1099897 14 50246373 [A/G] NM_014315 KLHDC2 EXON Missense_V232M exm1099900 14 50246931 [A/C] NM_014315 KLHDC2 EXON Missense_L258F exm1099901 14 50246932 [A/G] NM_014315 KLHDC2 EXON Missense_I259V exm1099903 14 50246974 [G/C] NM_014315 KLHDC2 EXON Missense_L273V exm1099907 14 50247039 [A/G] NM_014315 KLHDC2 EXON Synonymous_L294L exm1099927 14 50251693 [A/G] NM_004713 NEMF EXON Missense_H1035Y exm1099928 14 50251694 [T/C] NM_004713 NEMF EXON Missense_M1034I exm1099934 14 50251957 [T/C] NM_004713 NEMF EXON Missense_T1004A exm1099939 14 50253464 [T/A] NM_004713 NEMF EXON Missense_E967V exm1099957 14 50262548 [T/G] NM_004713 NEMF EXON Missense_K860N exm1099963 14 50262639 [A/G] NM_004713 NEMF EXON Missense_P830L exm1099964 14 50262640 [A/G] NM_004713 NEMF EXON Missense_P830S exm1099977 14 50267193 [T/C] NM_004713 NEMF EXON Missense_E773K exm1099981 14 50267349 [T/C] NM_004713 NEMF EXON Missense_M721V exm2222470 14 50267387 [A/T] NM_004713 NEMF EXON Missense_D708V exm1099986 14 50269183 [T/C] NM_004713 NEMF EXON Missense_M695V exm1100036 14 50296110 [T/C] NM_004713 NEMF EXON Missense_R327Q exm1100046 14 50298925 [A/G] NM_004713 NEMF EXON Missense_T269M exm1100049 14 50298962 [T/A] NM_004713 NEMF EXON Missense_S257C exm1100051 14 50300172 [T/C] NM_004713 NEMF EXON Missense_Y235C exm1100065 14 50307454 [T/G] NM_004713 NEMF EXON Missense_P163H exm1100076 14 50312964 [T/C] NM_004713 NEMF EXON Missense_S84N exm1100085 14 50318573 [T/C] NM_004713 NEMF EXON Missense_N27S exm1100122 14 50459592 [T/C] NM_001012706 C14orf182 Silent exm2251815 14 50472338 [A/G] NM_001012706 C14orf182 EXON Synonymous_S60S exm1100126 14 50472338 [A/G] NM_001012706 C14orf182 EXON Synonymous_S60S exm1100128 14 50472405 [A/G] NM_001012706 C14orf182 EXON Missense_P38L exm1100132 14 50472515 [T/C] NM_001012706 C14orf182 EXON Missense_M1I exm1100137 14 50550464 [T/C] NM_001014830 C14orf183 EXON Missense_E294K exm1100138 14 50550557 [T/C] NM_001014830 C14orf183 EXON Missense_V263I exm1100141 14 50550590 [A/G] NM_001014830 C14orf183 EXON Missense_R252C exm1100143 14 50550614 [T/C] NM_001014830 C14orf183 EXON Missense_V244I exm1100146 14 50550720 [T/G] NM_001014830 C14orf183 EXON Missense_H208Q exm1100150 14 50552003 [A/G] NM_001014830 C14orf183 EXON Missense_I154T exm1100159 14 50558441 [T/C] NM_001014830 C14orf183 EXON Missense_S43G exm1100160 14 50558444 [T/C] NM_001014830 C14orf183 EXON Missense_T42A exm1100161 14 50558459 [A/G] NM_001014830 C14orf183 EXON Nonsense_Q37X exm1100163 14 50559288 [A/G] NM_001014830 C14orf183 EXON Missense_M25T exm1100171 14 50579332 [T/C] NR_049738,NM_001040662,NR_049739,NM_024558 METTL21D,METTL21D,METTL21D,METTL21D Silent,Silent,Silent,Silent exm1100177 14 50581011 [A/C] NR_049738,NM_001040662,NR_049739,NM_024558 METTL21D,METTL21D,METTL21D,METTL21D EXON Silent,Missense_Y188D,Silent,Missense_Y188D exm1100197 14 50583083 [T/G] NR_049738,NM_001040662,NR_049739,NM_024558 METTL21D,METTL21D,METTL21D,METTL21D EXON Silent,Missense_A63D,Silent,Missense_A63D exm1100198 14 50583096 [A/G] NR_049738,NM_001040662,NR_049739,NM_024558 METTL21D,METTL21D,METTL21D,METTL21D EXON Silent,Missense_S59P,Silent,Missense_S59P exm1100199 14 50583131 [A/G] NR_049738,NM_001040662,NR_049739,NM_024558 METTL21D,METTL21D,METTL21D,METTL21D EXON Silent,Missense_I47T,Silent,Missense_I47T exm1100211 14 50585064 [A/G] NM_006939 SOS2 EXON Missense_X1333R exm1100213 14 50585074 [T/G] NM_006939 SOS2 EXON Missense_E1329D exm1100215 14 50585109 [A/G] NM_006939 SOS2 EXON Missense_P1318S exm1100220 14 50585231 [A/G] NM_006939 SOS2 EXON Missense_L1277P exm1100223 14 50585292 [T/C] NM_006939 SOS2 EXON Missense_N1257D exm1100225 14 50585317 [A/C] NM_006939 SOS2 EXON Missense_W1248C exm1100228 14 50585447 [A/G] NM_006939 SOS2 EXON Missense_P1205L exm1100243 14 50597306 [T/C] NM_006939 SOS2 EXON Missense_T1084A exm1100253 14 50605434 [T/C] NM_006939 SOS2 EXON Missense_D952N exm1100266 14 50616744 [A/G] NM_006939 SOS2 EXON Missense_L789S exm1100270 14 50616793 [G/C] NM_006939 SOS2 EXON Missense_D773H exm1100271 14 50616795 [A/C] NM_006939 SOS2 EXON Missense_F772C exm2222474 14 50616890 [T/G] NM_006939 SOS2 EXON Missense_Q740H exm1100283 14 50623760 [T/G] NM_006939 SOS2 EXON Missense_L672I exm2251817 14 50623764 [T/C] NM_006939 SOS2 EXON Synonymous_A670A exm1100284 14 50623764 [T/C] NM_006939 SOS2 EXON Synonymous_A670A exm1100297 14 50626480 [A/C] NM_006939 SOS2 EXON Missense_E507D exm1100299 14 50626553 [T/C] NM_006939 SOS2 EXON Missense_S483N exm1100306 14 50626745 [T/G] NM_006939 SOS2 EXON Missense_K419T exm2251818 14 50655308 [A/G] NM_006939 SOS2 EXON Synonymous_I207I exm1100330 14 50655330 [T/C] NM_006939 SOS2 EXON Missense_Y200C exm1100332 14 50655357 [C/G] NM_006939 SOS2 EXON Missense_P191R exm1100333 14 50655380 [G/C] NM_006939 SOS2 EXON Missense_L183F exm1100367 14 50732095 [T/C] NM_024884 L2HGDH EXON Missense_T393A exm1100372 14 50732172 [T/C] NM_024884 L2HGDH EXON Missense_Y367C exm1100379 14 50735881 [T/C] NM_024884 L2HGDH EXON Synonymous_P302P exm1813774 14 50735957 [T/C] NM_024884 L2HGDH EXON Missense_R277Q exm1100400 14 50750699 [A/C] NM_024884 L2HGDH EXON Missense_V198G exm1100415 14 50769619 [T/C] NM_024884 L2HGDH Silent exm1100422 14 50778732 [A/G] NM_024884 L2HGDH EXON Missense_T46I exm1100423 14 50778770 [A/C] NM_024884 L2HGDH EXON Missense_R33S exm1100427 14 50778861 [A/G] NM_024884 L2HGDH EXON Missense_P3L exm2222478 14 50779742 [T/C] NM_001003805,NM_015684,NR_033761,NM_001003803 ATP5S,ATP5S,ATP5S,ATP5S EXON Missense_C2R,Missense_C2R,Silent,Missense_C2R exm1100435 14 50788210 [A/T] NM_001003805,NM_015684,NR_033761,NM_001003803 ATP5S,ATP5S,ATP5S,ATP5S EXON Missense_M17K,Missense_M17K,Silent,Missense_M17K exm1100436 14 50788213 [T/C] NM_001003805,NM_015684,NR_033761,NM_001003803 ATP5S,ATP5S,ATP5S,ATP5S EXON Missense_P18L,Missense_P18L,Silent,Missense_P18L exm1100441 14 50789290 [T/C] NM_001003805,NM_015684,NR_033761,NM_001003803 ATP5S,ATP5S,ATP5S,ATP5S EXON Missense_R72C,Missense_R72C,Silent,Missense_R72C exm1100444 14 50789387 [T/C] NM_001003805,NM_015684,NR_033761,NM_001003803 ATP5S,ATP5S,ATP5S,ATP5S EXON Missense_A104V,Missense_A104V,Silent,Missense_A104V exm1100447 14 50789401 [A/G] NM_001003805,NM_015684,NR_033761,NM_001003803 ATP5S,ATP5S,ATP5S,ATP5S EXON Missense_D109N,Missense_D109N,Silent,Missense_D109N exm1100450 14 50789476 [A/G] NM_001003805,NM_015684,NR_033761,NM_001003803 ATP5S,ATP5S,ATP5S,ATP5S EXON Silent,Missense_D134N,Silent,Silent exm1100466 14 50796881 [C/G] NM_004196 CDKL1 EXON Missense_L330V exm1100475 14 50799018 [T/C] NM_004196 CDKL1 EXON Missense_K311E exm1100478 14 50799045 [T/C] NM_004196 CDKL1 EXON Missense_N302D exm1100483 14 50799126 [C/G] NM_004196 CDKL1 EXON Missense_Q275E exm1100498 14 50807842 [A/G] NM_004196 CDKL1 EXON Missense_I189T exm-IND14-49879381 14 50809632 [I/D] NM_004196 CDKL1 exm1100527 14 50825839 [A/G] NM_004196 CDKL1 EXON Missense_L67P exm2267657 14 50855257 [A/G] NM_004196 CDKL1 Silent exm1100560 14 50862418 [C/G] NM_004196 CDKL1 Silent exm1100562 14 50862463 [A/G] NM_004196 CDKL1 EXON Missense_P43S exm1813838 14 50862589 [T/C] NM_004196 CDKL1 EXON Missense_M1V exm-rs1265879 14 50877983 [A/G] exm1100592 14 50895394 [T/C] NM_006575,NM_198794 MAP4K5,MAP4K5 EXON Missense_R771H,Missense_R771H exm1100606 14 50901768 [A/G] NM_006575,NM_198794 MAP4K5,MAP4K5 EXON Missense_T633M,Missense_T633M exm1100609 14 50904252 [T/C] NM_006575,NM_198794 MAP4K5,MAP4K5 EXON Synonymous_R608R,Synonymous_R608R exm1100611 14 50904642 [G/C] NM_006575,NM_198794 MAP4K5,MAP4K5 EXON Missense_T598S,Missense_T598S exm1100621 14 50910675 [G/C] NM_006575,NM_198794 MAP4K5,MAP4K5 EXON Missense_K473N,Missense_K473N exm1100627 14 50911878 [A/G] NM_006575,NM_198794 MAP4K5,MAP4K5 EXON Missense_P407L,Missense_P407L exm1100639 14 50923249 [T/C] NM_006575,NM_198794 MAP4K5,MAP4K5 EXON Missense_A334T,Missense_A334T exm1100640 14 50923254 [T/C] NM_006575,NM_198794 MAP4K5,MAP4K5 EXON Missense_R332Q,Missense_R332Q exm1100656 14 50935432 [A/G] NM_006575,NM_198794 MAP4K5,MAP4K5 EXON Missense_V204A,Missense_V204A exm1100659 14 50942858 [T/C] NM_006575,NM_198794 MAP4K5,MAP4K5 EXON Missense_D153N,Missense_D153N exm2251819 14 50952851 [A/G] NM_006575,NM_198794 MAP4K5,MAP4K5 EXON Synonymous_N76N,Synonymous_N76N exm1813873 14 50971521 [G/C] NM_006575,NM_198794 MAP4K5,MAP4K5 EXON Missense_P55A,Missense_P55A exm1100672 14 50971563 [A/G] NM_006575,NM_198794 MAP4K5,MAP4K5 EXON Missense_H41Y,Missense_H41Y exm1100690 14 51054710 [G/C] NM_001127713,NM_181598,NM_015915 ATL1,ATL1,ATL1 EXON Missense_E66Q,Missense_E66Q,Missense_E66Q exm1100691 14 51057682 [A/C] NM_001127713,NM_181598,NM_015915 ATL1,ATL1,ATL1 EXON Missense_D102E,Missense_D102E,Missense_D102E exm1100693 14 51057698 [A/G] NM_001127713,NM_181598,NM_015915 ATL1,ATL1,ATL1 EXON Missense_T108A,Missense_T108A,Missense_T108A exm-rs17122693 14 51084235 [T/C] NM_001127713,NM_181598,NM_015915 ATL1,ATL1,ATL1 Silent,Silent,Silent exm1100725 14 51094842 [A/G] NM_001127713,NM_181598,NM_015915 ATL1,ATL1,ATL1 EXON Missense_V405M,Missense_V405M,Missense_V405M exm1100741 14 51101992 [T/G] NM_021818 SAV1 EXON Missense_Y354S exm2267708 14 51148070 [A/G] exm2251821 14 51188341 [A/G] NM_020921 NIN EXON Silent exm1100786 14 51190300 [A/G] NM_020921 NIN EXON Nonsense_R2095X exm1100787 14 51190308 [A/G] NM_020921 NIN EXON Missense_T2092I exm1100799 14 51192709 [T/C] NM_020921,NM_182946,NM_016350 NIN,NIN,NIN EXON Missense_R2052G,Missense_R2052G,Missense_R1339G exm1100806 14 51196251 [T/C] NM_020921,NM_182946,NM_016350,NM_182944 NIN,NIN,NIN,NIN EXON Missense_N2023S,Missense_N2023S,Missense_N1310S,Missense_N2023S exm1100812 14 51196323 [T/C] NM_020921,NM_182946,NM_016350,NM_182944 NIN,NIN,NIN,NIN EXON Missense_R1999H,Missense_R1999H,Missense_R1286H,Missense_R1999H exm1100813 14 51196324 [A/G] NM_020921,NM_182946,NM_016350,NM_182944 NIN,NIN,NIN,NIN EXON Missense_R1999C,Missense_R1999C,Missense_R1286C,Missense_R1999C exm1100814 14 51196359 [A/G] NM_020921,NM_182946,NM_016350,NM_182944 NIN,NIN,NIN,NIN EXON Missense_P1987L,Missense_P1987L,Missense_P1274L,Missense_P1987L exm1100819 14 51196416 [A/G] NM_020921,NM_182946,NM_016350,NM_182944 NIN,NIN,NIN,NIN EXON Missense_T1968M,Missense_T1968M,Missense_T1255M,Missense_T1968M exm1100825 14 51202311 [C/G] NM_020921,NM_182946,NM_016350,NM_182944 NIN,NIN,NIN,NIN EXON Missense_Q1934E,Missense_Q1934E,Missense_Q1221E,Missense_Q1934E exm1100829 14 51204874 [A/G] NM_020921,NM_182946,NM_016350,NM_182944 NIN,NIN,NIN,NIN EXON Missense_S1920F,Missense_S1920F,Missense_S1207F,Missense_S1920F exm1100834 14 51204985 [T/C] NM_020921,NM_182946,NM_016350,NM_182944 NIN,NIN,NIN,NIN EXON Missense_N1883S,Missense_N1883S,Missense_N1170S,Missense_N1883S exm1100844 14 51206049 [T/C] NM_020921,NM_182946,NM_016350,NM_182944 NIN,NIN,NIN,NIN EXON Missense_E1869K,Missense_E1869K,Missense_E1156K,Missense_E1869K exm1100849 14 51206145 [T/A] NM_020921,NM_182946,NM_016350,NM_182944 NIN,NIN,NIN,NIN EXON Missense_S1837T,Missense_S1837T,Missense_S1124T,Missense_S1837T exm1100851 14 51206171 [G/C] NM_020921,NM_182946,NM_016350,NM_182944 NIN,NIN,NIN,NIN EXON Missense_G1828A,Missense_G1828A,Missense_G1115A,Missense_G1828A exm1100861 14 51208446 [A/C] NM_020921,NM_182946,NM_016350,NM_182944 NIN,NIN,NIN,NIN EXON Missense_V1768F,Missense_V1768F,Missense_V1055F,Missense_V1768F exm1100867 14 51210247 [A/G] NM_020921,NM_182946,NM_016350,NM_182944 NIN,NIN,NIN,NIN EXON Synonymous_L1730L,Synonymous_L1730L,Synonymous_L1017L,Synonymous_L1730L exm2222485 14 51211010 [A/G] NM_020921,NM_182946,NM_016350,NM_182944 NIN,NIN,NIN,NIN EXON Missense_L1713P,Missense_L1713P,Missense_L1000P,Missense_L1713P exm1100872 14 51211073 [T/C] NM_020921,NM_182946,NM_016350,NM_182944 NIN,NIN,NIN,NIN EXON Missense_C1692Y,Missense_C1692Y,Missense_C979Y,Missense_C1692Y exm1100875 14 51214763 [T/C] NM_020921,NM_182946,NM_016350,NM_182944 NIN,NIN,NIN,NIN EXON Missense_I1671V,Missense_I1671V,Missense_I958V,Missense_I1671V exm1100877 14 51214768 [T/G] NM_020921,NM_182946,NM_016350,NM_182944 NIN,NIN,NIN,NIN EXON Missense_T1669N,Missense_T1669N,Missense_T956N,Missense_T1669N exm1100883 14 51219249 [T/C] NM_020921,NM_182946,NM_016350,NM_182944 NIN,NIN,NIN,NIN EXON Missense_R1646H,Missense_R1646H,Missense_R933H,Missense_R1646H exm1100886 14 51219320 [T/G] NM_020921,NM_182946,NM_016350,NM_182944 NIN,NIN,NIN,NIN EXON Missense_E1622D,Missense_E1622D,Missense_E909D,Missense_E1622D exm1100888 14 51219349 [A/G] NM_020921,NM_182946,NM_016350,NM_182944 NIN,NIN,NIN,NIN EXON Missense_R1613C,Missense_R1613C,Missense_R900C,Missense_R1613C exm1100893 14 51221460 [G/C] NM_020921,NM_182946,NM_016350,NM_182944 NIN,NIN,NIN,NIN EXON Missense_W1555S,Missense_W1555S,Missense_W842S,Missense_W1555S exm1100914 14 51223460 [T/A] NM_020921,NM_182946,NM_016350,NM_182944 NIN,NIN,NIN,NIN EXON Missense_I1430L,Missense_I1430L,Silent,Missense_I1430L exm1100920 14 51223789 [T/C] NM_020921,NM_182946,NM_016350,NM_182944 NIN,NIN,NIN,NIN EXON Missense_G1320E,Missense_G1320E,Silent,Missense_G1320E exm1813986 14 51223804 [T/C] NM_020921,NM_182946,NM_016350,NM_182944 NIN,NIN,NIN,NIN EXON Missense_K1315R,Missense_K1315R,Silent,Missense_K1315R exm1100927 14 51223943 [A/T] NM_020921,NM_182946,NM_016350,NM_182944 NIN,NIN,NIN,NIN EXON Missense_M1269L,Missense_M1269L,Silent,Missense_M1269L exm1100931 14 51224006 [A/G] NM_020921,NM_182946,NM_016350,NM_182944 NIN,NIN,NIN,NIN EXON Missense_Y1248H,Missense_Y1248H,Silent,Missense_Y1248H exm1100932 14 51224008 [T/C] NM_020921,NM_182946,NM_016350,NM_182944 NIN,NIN,NIN,NIN EXON Missense_K1247R,Missense_K1247R,Silent,Missense_K1247R exm1813990 14 51224083 [T/C] NM_020921,NM_182946,NM_016350,NM_182944 NIN,NIN,NIN,NIN EXON Missense_Q1222R,Missense_Q1222R,Silent,Missense_Q1222R exm1100935 14 51224101 [T/C] NM_020921,NM_182946,NM_016350,NM_182944 NIN,NIN,NIN,NIN EXON Missense_R1216Q,Missense_R1216Q,Silent,Missense_R1216Q exm1100938 14 51224137 [T/C] NM_020921,NM_182946,NM_016350,NM_182944 NIN,NIN,NIN,NIN EXON Missense_Q1204R,Missense_Q1204R,Silent,Missense_Q1204R exm1100942 14 51224249 [T/C] NM_020921,NM_182946,NM_016350,NM_182944 NIN,NIN,NIN,NIN EXON Missense_E1167K,Missense_E1167K,Silent,Missense_E1167K exm1100943 14 51224261 [C/G] NM_020921,NM_182946,NM_016350,NM_182944 NIN,NIN,NIN,NIN EXON Missense_V1163L,Missense_V1163L,Silent,Missense_V1163L exm1100945 14 51224294 [A/C] NM_020921,NM_182946,NM_016350,NM_182944 NIN,NIN,NIN,NIN EXON Missense_V1152F,Missense_V1152F,Silent,Missense_V1152F exm1100950 14 51224356 [T/C] NM_020921,NM_182946,NM_016350,NM_182944 NIN,NIN,NIN,NIN EXON Missense_R1131Q,Missense_R1131Q,Silent,Missense_R1131Q exm1100951 14 51224374 [T/G] NM_020921,NM_182946,NM_016350,NM_182944 NIN,NIN,NIN,NIN EXON Missense_Q1125P,Missense_Q1125P,Silent,Missense_Q1125P exm1100953 14 51224417 [G/C] NM_020921,NM_182946,NM_016350,NM_182944 NIN,NIN,NIN,NIN EXON Missense_P1111A,Missense_P1111A,Silent,Missense_P1111A exm1100957 14 51224551 [A/T] NM_020921,NM_182946,NM_016350,NM_182944 NIN,NIN,NIN,NIN EXON Missense_V1066D,Missense_V1066D,Silent,Missense_V1066D exm1100967 14 51224714 [T/C] NM_020921,NM_182946,NM_016350,NM_182944 NIN,NIN,NIN,NIN EXON Missense_I1012V,Missense_I1012V,Silent,Missense_I1012V exm1100971 14 51224761 [A/G] NM_020921,NM_182946,NM_016350,NM_182944 NIN,NIN,NIN,NIN EXON Missense_A996V,Missense_A996V,Silent,Missense_A996V exm1100975 14 51224866 [A/G] NM_020921,NM_182946,NM_016350,NM_182944 NIN,NIN,NIN,NIN EXON Missense_S961L,Missense_S961L,Silent,Missense_S961L exm1813998 14 51224881 [T/C] NM_020921,NM_182946,NM_016350,NM_182944 NIN,NIN,NIN,NIN EXON Missense_C956Y,Missense_C956Y,Silent,Missense_C956Y exm1813999 14 51224890 [T/A] NM_020921,NM_182946,NM_016350,NM_182944 NIN,NIN,NIN,NIN EXON Missense_E953V,Missense_E953V,Silent,Missense_E953V exm1814002 14 51225049 [G/C] NM_020921,NM_182946,NM_016350,NM_182944 NIN,NIN,NIN,NIN EXON Missense_T900R,Missense_T900R,Silent,Missense_T900R exm1100983 14 51225083 [C/G] NM_020921,NM_182946,NM_016350,NM_182944 NIN,NIN,NIN,NIN EXON Missense_V889L,Missense_V889L,Silent,Missense_V889L exm1100984 14 51225097 [T/C] NM_020921,NM_182946,NM_016350,NM_182944 NIN,NIN,NIN,NIN EXON Missense_K884R,Missense_K884R,Silent,Missense_K884R exm1100986 14 51225139 [A/G] NM_020921,NM_182946,NM_016350,NM_182944 NIN,NIN,NIN,NIN EXON Missense_A870V,Missense_A870V,Silent,Missense_A870V exm1101007 14 51226902 [T/C] NM_020921,NM_182946,NM_016350,NM_182944 NIN,NIN,NIN,NIN EXON Missense_H691R,Missense_H691R,Missense_H691R,Missense_H691R exm1101008 14 51226933 [T/C] NM_020921,NM_182946,NM_016350,NM_182944 NIN,NIN,NIN,NIN EXON Missense_G681R,Missense_G681R,Missense_G681R,Missense_G681R exm1101018 14 51228624 [T/C] NM_020921,NM_182946,NM_016350,NM_182944 NIN,NIN,NIN,NIN EXON Missense_G594S,Missense_G594S,Missense_G594S,Missense_G594S exm1101021 14 51230550 [T/C] NM_020921,NM_182946,NM_016350,NM_182944 NIN,NIN,NIN,NIN EXON Missense_E590K,Missense_E590K,Missense_E590K,Missense_E590K exm1101028 14 51233102 [C/G] NM_020921,NM_182946,NM_016350,NM_182944 NIN,NIN,NIN,NIN EXON Missense_D520H,Missense_D520H,Missense_D520H,Missense_D520H exm1101032 14 51233599 [A/G] NM_020921,NM_182946,NM_016350,NM_182944 NIN,NIN,NIN,NIN EXON Missense_R482C,Missense_R482C,Missense_R482C,Missense_R482C exm1101034 14 51237125 [T/C] NM_020921,NM_182946,NM_016350,NM_182944 NIN,NIN,NIN,NIN EXON Missense_R472H,Missense_R472H,Missense_R472H,Missense_R472H exm1101049 14 51238168 [T/C] NM_020921,NM_182946,NM_016350,NM_182944 NIN,NIN,NIN,NIN EXON Missense_D334N,Missense_D334N,Missense_D334N,Missense_D334N exm1101056 14 51239143 [A/G] NM_020921,NM_182946,NM_016350,NM_182944 NIN,NIN,NIN,NIN EXON Missense_M286T,Missense_M286T,Missense_M286T,Missense_M286T exm1101066 14 51239807 [T/C] NM_020921,NM_182946,NM_016350,NM_182944 NIN,NIN,NIN,NIN EXON Missense_E225K,Missense_E225K,Missense_E225K,Missense_E225K exm1101077 14 51245506 [T/C] NM_020921,NM_182946,NM_016350,NM_182944 NIN,NIN,NIN,NIN EXON Missense_R151H,Missense_R151H,Missense_R151H,Missense_R151H exm1101080 14 51259444 [T/C] NM_020921,NM_182946,NM_016350,NM_182944 NIN,NIN,NIN,NIN EXON Missense_G141S,Missense_G141S,Missense_G141S,Missense_G141S exm1101083 14 51259494 [A/G] NM_020921,NM_182946,NM_016350,NM_182944 NIN,NIN,NIN,NIN EXON Missense_T124M,Missense_T124M,Missense_T124M,Missense_T124M exm1101114 14 51345537 [A/G] NM_181814,NM_001206673 ABHD12B,ABHD12B EXON Silent,Missense_V103I exm1101119 14 51347190 [A/G] NM_181814,NM_001206673 ABHD12B,ABHD12B EXON Missense_R42Q,Missense_R119Q exm1101122 14 51347241 [G/C] NM_181814,NM_001206673 ABHD12B,ABHD12B EXON Missense_R59P,Missense_R136P exm1101128 14 51348345 [T/G] NM_181814,NM_001206673 ABHD12B,ABHD12B Silent,Silent exm1101131 14 51352345 [A/G] NM_181814,NM_001206673 ABHD12B,ABHD12B EXON Missense_G90D,Missense_G167D exm1101137 14 51352495 [T/G] NM_181814,NM_001206673 ABHD12B,ABHD12B EXON Missense_S105A,Missense_S182A exm1101142 14 51352555 [A/G] NM_181814,NM_001206673 ABHD12B,ABHD12B EXON Missense_T125A,Missense_T202A exm1101153 14 51355596 [A/C] NM_181814,NM_001206673 ABHD12B,ABHD12B EXON Missense_A175E,Missense_A252E exm1101158 14 51368584 [T/C] NM_181814,NM_001206673 ABHD12B,ABHD12B EXON Missense_M196T,Missense_M273T exm1101160 14 51368610 [A/G] NM_181814,NM_001206673 ABHD12B,ABHD12B EXON Missense_I205V,Missense_I282V exm1101164 14 51370142 [A/G] NM_181814,NM_001206673 ABHD12B,ABHD12B EXON Missense_H223R,Missense_H300R exm1101171 14 51370807 [T/C] NM_181814,NM_001206673 ABHD12B,ABHD12B EXON Missense_R243C,Missense_R320C exm1101172 14 51370849 [T/C] NM_181814,NM_001206673 ABHD12B,ABHD12B EXON Missense_F257L,Missense_F334L exm1101173 14 51370852 [C/G] NM_181814,NM_001206673 ABHD12B,ABHD12B EXON Missense_P258A,Missense_P335A exm1101174 14 51370906 [A/G] NM_181814,NM_001206673 ABHD12B,ABHD12B EXON Missense_V276M,Missense_V353M exm1101185 14 51372120 [T/C] NM_001163940,NM_002863 PYGL,PYGL EXON Missense_N811S,Missense_N845S exm1101188 14 51372166 [T/G] NM_001163940,NM_002863 PYGL,PYGL EXON Missense_P796T,Missense_P830T exm1101200 14 51375654 [A/G] NM_001163940,NM_002863 PYGL,PYGL EXON Missense_Y699H,Missense_Y733H exm1101212 14 51376809 [T/C] NM_001163940,NM_002863 PYGL,PYGL EXON Missense_T627A,Missense_T661A exm1101215 14 51378517 [G/C] NM_001163940,NM_002863 PYGL,PYGL EXON Missense_D600H,Missense_D634H exm1101224 14 51378885 [A/G] NM_001163940,NM_002863 PYGL,PYGL EXON Missense_T552M,Missense_T586M exm1101226 14 51378913 [A/G] NM_001163940,NM_002863 PYGL,PYGL EXON Nonsense_Q543X,Nonsense_Q577X exm2251823 14 51378959 [A/G] NM_001163940,NM_002863 PYGL,PYGL EXON Synonymous_S527S,Synonymous_S561S exm1101240 14 51381527 [G/C] NM_001163940,NM_002863 PYGL,PYGL EXON Missense_K436N,Missense_K470N exm1101242 14 51382091 [T/C] NM_001163940,NM_002863 PYGL,PYGL EXON Missense_V422M,Missense_V456M exm1101248 14 51382183 [T/C] NM_001163940,NM_002863 PYGL,PYGL EXON Missense_R391H,Missense_R425H exm1101255 14 51382637 [A/G] NM_001163940,NM_002863 PYGL,PYGL EXON Missense_P348L,Missense_P382L exm1101257 14 51382662 [T/C] NM_001163940,NM_002863 PYGL,PYGL EXON Missense_A340T,Missense_A374T exm1101268 14 51383717 [T/C] NM_001163940,NM_002863 PYGL,PYGL EXON Missense_R287H,Missense_R321H exm1101272 14 51383751 [A/G] NM_001163940,NM_002863 PYGL,PYGL EXON Missense_R276C,Missense_R310C exm1101274 14 51387294 [T/C] NM_001163940,NM_002863 PYGL,PYGL EXON Missense_E240K,Missense_E274K exm1101284 14 51387755 [T/C] NM_001163940,NM_002863 PYGL,PYGL EXON Missense_V197M,Missense_V231M exm1101286 14 51387782 [T/C] NM_001163940,NM_002863 PYGL,PYGL EXON Missense_V188I,Missense_V222I exm1101288 14 51390736 [T/C] NM_001163940,NM_002863 PYGL,PYGL EXON Missense_Y170C,Missense_Y204C exm1101295 14 51398444 [T/C] NM_001163940,NM_002863 PYGL,PYGL EXON Missense_G125S,Missense_G159S exm1101299 14 51401885 [T/C] NM_001163940,NM_002863 PYGL,PYGL EXON Missense_E88K,Missense_E122K exm1101305 14 51404519 [A/G] NM_001163940,NM_002863 PYGL,PYGL EXON Silent,Nonsense_R94X exm1101308 14 51410946 [A/G] NM_001163940,NM_002863 PYGL,PYGL EXON Missense_T59M,Missense_T59M exm2222496 14 51411248 [T/C] NM_001163940,NM_002863 PYGL,PYGL EXON Silent,Silent exm1101329 14 51446216 [T/G] NM_015163 TRIM9 EXON Missense_L653F exm1101332 14 51446242 [T/C] NM_015163 TRIM9 EXON Missense_A645T exm1101348 14 51448785 [A/G] NM_015163 TRIM9 EXON Missense_S547L exm1101376 14 51489582 [T/C] NM_015163,NM_052978 TRIM9,TRIM9 EXON Missense_V338I,Missense_V338I exm1814148 14 51561405 [T/C] NM_015163,NM_052978 TRIM9,TRIM9 EXON Missense_A85T,Missense_A85T exm1101422 14 51712054 [A/C] NM_030755 TMX1 EXON Missense_T98P exm1101430 14 51713867 [A/G] NM_030755 TMX1 EXON Missense_I124M exm1101442 14 51716453 [T/C] NM_030755 TMX1 EXON Missense_R212C exm2272081 14 51916763 [T/C] exm-rs7153703 14 51919822 [A/G] exm-rs7140150 14 52010799 [T/C] NR_051990,NM_001042481 FRMD6-AS2,FRMD6 Silent,Silent exm1101456 14 52156600 [T/C] NM_001042481,NM_152330,NM_001267046 FRMD6,FRMD6,FRMD6 EXON Missense_R16C,Missense_R16C,Missense_R16C exm1101460 14 52164887 [A/G] NM_001042481,NM_152330,NM_001267046 FRMD6,FRMD6,FRMD6 EXON Missense_V43I,Missense_V43I,Missense_V43I exm1101466 14 52171526 [A/T] NM_001042481,NM_152330,NM_001267046 FRMD6,FRMD6,FRMD6 EXON Missense_Q136L,Missense_Q136L,Missense_Q144L exm1101474 14 52174880 [A/G] NM_001042481,NM_152330,NM_001267046 FRMD6,FRMD6,FRMD6 EXON Missense_A207T,Missense_A207T,Missense_A215T exm1101475 14 52174899 [A/G] NM_001042481,NM_152330,NM_001267046 FRMD6,FRMD6,FRMD6 EXON Missense_K213R,Missense_K213R,Missense_K221R exm1101489 14 52182214 [A/G] NM_001042481,NM_152330,NM_001267046 FRMD6,FRMD6,FRMD6 EXON Missense_E333K,Missense_E333K,Missense_E341K exm2251826 14 52186795 [T/C] NM_001042481,NM_152330,NM_001267046,NM_001267047 FRMD6,FRMD6,FRMD6,FRMD6 EXON Synonymous_S341S,Synonymous_S341S,Synonymous_S349S,Silent exm1101495 14 52186828 [A/C] NM_001042481,NM_152330,NM_001267046,NM_001267047 FRMD6,FRMD6,FRMD6,FRMD6 EXON Missense_D352E,Missense_D352E,Missense_D360E,Missense_D2E exm1101503 14 52186965 [T/C] NM_001042481,NM_152330,NM_001267046,NM_001267047 FRMD6,FRMD6,FRMD6,FRMD6 EXON Missense_T398M,Missense_T398M,Missense_T406M,Missense_T48M exm1101511 14 52187093 [A/G] NM_001042481,NM_152330,NM_001267046,NM_001267047 FRMD6,FRMD6,FRMD6,FRMD6 EXON Missense_D441N,Missense_D441N,Missense_D449N,Missense_D91N exm1101512 14 52188693 [T/C] NM_001042481,NM_152330,NM_001267046,NM_001267047 FRMD6,FRMD6,FRMD6,FRMD6 EXON Missense_R455W,Missense_R455W,Missense_R463W,Missense_R105W exm1101516 14 52188778 [A/G] NM_001042481,NM_152330,NM_001267046,NM_001267047 FRMD6,FRMD6,FRMD6,FRMD6 EXON Missense_R483Q,Missense_R483Q,Missense_R491Q,Missense_R133Q exm1101523 14 52194514 [A/G] NM_001042481,NM_152330,NM_001267046,NM_001267047 FRMD6,FRMD6,FRMD6,FRMD6 EXON Missense_D538N,Missense_D538N,Missense_D546N,Missense_D188N exm1101528 14 52194571 [T/A] NM_001042481,NM_152330,NM_001267046,NM_001267047 FRMD6,FRMD6,FRMD6,FRMD6 EXON Missense_T557S,Missense_T557S,Missense_T565S,Missense_T207S exm1101529 14 52194612 [T/G] NM_001042481,NM_152330,NM_001267046,NM_001267047 FRMD6,FRMD6,FRMD6,FRMD6 EXON Missense_D570E,Missense_D570E,Missense_D578E,Missense_D220E exm-rs11626056 14 52233276 [T/C] exm2251827 14 52336682 [T/G] NM_001243773,NM_053064,NM_001243774 GNG2,GNG2,GNG2 Silent,Silent,Silent exm2272171 14 52377739 [T/C] NM_001243773,NM_053064,NM_001243774 GNG2,GNG2,GNG2 Silent,Silent,Silent exm1101537 14 52433340 [A/C] NM_001243773,NM_053064,NM_001243774 GNG2,GNG2,GNG2 EXON Missense_L51M,Missense_L51M,Missense_L51M exm1101553 14 52465236 [T/C] NM_016039 C14orf166 EXON Missense_P104L exm1101557 14 52465299 [T/G] NM_016039 C14orf166 Silent exm1101560 14 52466446 [C/G] NM_016039 C14orf166 EXON Missense_A132P exm1101562 14 52466485 [T/C] NM_016039 C14orf166 EXON Missense_R145C exm1101576 14 52471166 [A/G] NM_016039 C14orf166 EXON Missense_I223V exm1101590 14 52473280 [A/G] NM_007361 NID2 EXON Missense_H1327Y exm1101594 14 52473372 [T/C] NM_007361 NID2 EXON Missense_K1296R exm1101602 14 52477613 [T/C] NM_007361 NID2 EXON Missense_A1235T exm1101610 14 52477726 [T/C] NM_007361 NID2 EXON Missense_R1197H exm1101612 14 52477765 [T/C] NM_007361 NID2 EXON Missense_G1184D exm1101618 14 52478320 [A/G] NM_007361 NID2 EXON Missense_R1168C exm1101624 14 52478368 [A/G] NM_007361 NID2 EXON Missense_R1152W exm1101629 14 52481054 [T/C] NM_007361 NID2 EXON Missense_N1124S exm1101635 14 52481774 [A/G] NM_007361 NID2 EXON Missense_A1083V exm1101643 14 52481922 [T/G] NM_007361 NID2 EXON Missense_P1034T exm1101652 14 52485937 [T/C] NM_007361 NID2 EXON Missense_R957Q exm1101659 14 52486783 [T/C] NM_007361 NID2 EXON Missense_I930V exm1101660 14 52486810 [T/C] NM_007361 NID2 EXON Missense_G921R exm1814333 14 52486872 [C/G] NM_007361 NID2 EXON Missense_R900T exm1101668 14 52493937 [T/C] NM_007361 NID2 EXON Missense_D886N exm1101671 14 52493961 [T/C] NM_007361 NID2 EXON Missense_A878T exm1101673 14 52493984 [T/C] NM_007361 NID2 EXON Missense_H870R exm1101674 14 52493996 [T/C] NM_007361 NID2 EXON Missense_R866Q exm1101675 14 52493997 [A/G] NM_007361 NID2 EXON Missense_R866W exm1101676 14 52494064 [T/C] NM_007361 NID2 Silent exm1101680 14 52495459 [T/A] NM_007361 NID2 EXON Missense_D837E exm1101682 14 52495481 [T/C] NM_007361 NID2 EXON Missense_R830Q exm1101691 14 52496287 [A/C] NM_007361 NID2 EXON Missense_Q793H exm1101692 14 52496301 [T/C] NM_007361 NID2 EXON Missense_A789T exm1101694 14 52496336 [T/C] NM_007361 NID2 EXON Missense_H777R exm1101695 14 52496342 [T/C] NM_007361 NID2 EXON Missense_R775Q exm1101697 14 52496373 [T/C] NM_007361 NID2 EXON Missense_D765N exm1101699 14 52496387 [A/C] NM_007361 NID2 EXON Missense_G760V exm1101701 14 52496390 [A/G] NM_007361 NID2 EXON Missense_P759L exm1101702 14 52496399 [T/C] NM_007361 NID2 EXON Missense_D756G exm1101703 14 52496407 [T/C] NM_007361 NID2 EXON Synonymous_E753E exm1101705 14 52505473 [A/G] NM_007361 NID2 EXON Missense_P750L exm1101707 14 52505504 [A/G] NM_007361 NID2 EXON Missense_L740F exm1101714 14 52505546 [T/C] NM_007361 NID2 EXON Missense_V726M exm1101720 14 52505627 [A/G] NM_007361 NID2 EXON Missense_R699C exm1101721 14 52505653 [A/C] NM_007361 NID2 EXON Missense_G690V exm1101723 14 52505694 [A/G] NM_007361 NID2 EXON Synonymous_T676T exm1101728 14 52507429 [A/G] NM_007361 NID2 EXON Missense_S656P exm1101730 14 52507491 [A/C] NM_007361 NID2 EXON Missense_G635V exm1101731 14 52507501 [T/C] NM_007361 NID2 EXON Missense_T632A exm1101732 14 52507512 [T/C] NM_007361 NID2 EXON Missense_R628H exm1101736 14 52507564 [G/C] NM_007361 NID2 EXON Missense_A611P exm1101738 14 52508842 [A/C] NM_007361 NID2 EXON Missense_E602D exm2251828 14 52508947 [T/C] NM_007361 NID2 EXON Synonymous_T567T exm1101743 14 52508948 [A/G] NM_007361 NID2 EXON Missense_T567M exm1101752 14 52509501 [T/C] NM_007361 NID2 EXON Synonymous_E526E exm1101757 14 52509601 [T/C] NM_007361 NID2 EXON Missense_R493K exm1101759 14 52509631 [C/G] NM_007361 NID2 EXON Missense_A483G exm-rs730532 14 52518811 [A/G] NM_007361 NID2 Silent exm1101762 14 52520302 [A/G] NM_007361 NID2 EXON Missense_T475I exm1101763 14 52520341 [A/G] NM_007361 NID2 EXON Missense_T462M exm1101767 14 52520368 [T/C] NM_007361 NID2 EXON Missense_G453D exm1814375 14 52520386 [T/C] NM_007361 NID2 EXON Missense_R447Q exm1101774 14 52520434 [A/G] NM_007361 NID2 EXON Missense_S431L exm1101780 14 52520488 [A/G] NM_007361 NID2 EXON Missense_P413L exm1101781 14 52520528 [T/C] NM_007361 NID2 EXON Missense_D400N exm1101789 14 52520746 [T/G] NM_007361 NID2 EXON Missense_P354H exm1101792 14 52520759 [T/C] NM_007361 NID2 EXON Missense_V350M exm1814380 14 52520782 [A/T] NM_007361 NID2 EXON Missense_I342N exm1101797 14 52520869 [T/C] NM_007361 NID2 EXON Missense_D313G exm1101798 14 52520915 [A/G] NM_007361 NID2 EXON Missense_R298C exm1101799 14 52520942 [T/C] NM_007361 NID2 EXON Missense_A289T exm1101809 14 52526924 [A/G] NM_007361 NID2 EXON Nonsense_R229X exm1101814 14 52527005 [T/C] NM_007361 NID2 EXON Missense_N202D exm1101817 14 52527040 [T/C] NM_007361 NID2 EXON Missense_G190E exm1101836 14 52535511 [A/G] NM_007361 NID2 EXON Missense_Y68H exm1101842 14 52535648 [T/G] NM_007361 NID2 EXON Missense_P22Q exm-rs1950736 14 52600254 [A/G] exm1101851 14 52734551 [T/C] NM_000953 PTGDR EXON Missense_R7C exm1814441 14 52734591 [T/C] NM_000953 PTGDR EXON Missense_A20V exm1101855 14 52734696 [A/G] NM_000953 PTGDR EXON Missense_R55H exm1101859 14 52734822 [T/C] NM_000953 PTGDR EXON Missense_A97V exm1101862 14 52734899 [A/C] NM_000953 PTGDR EXON Missense_L123I exm1101867 14 52735007 [T/C] NM_000953 PTGDR EXON Missense_F159L exm1101872 14 52735063 [C/G] NM_000953 PTGDR EXON Nonsense_Y177X exm1101877 14 52735125 [A/G] NM_000953 PTGDR EXON Missense_G198E exm1101879 14 52735152 [T/C] NM_000953 PTGDR EXON Missense_M207T exm1101888 14 52735290 [C/G] NM_000953 PTGDR EXON Missense_A253G exm1101890 14 52741504 [A/C] NM_000953 PTGDR EXON Missense_E301A exm1101892 14 52741521 [T/C] NM_000953 PTGDR EXON Nonsense_R307X exm1101895 14 52741530 [T/C] NM_000953 PTGDR EXON Nonsense_R310X exm1101899 14 52741597 [A/G] NM_000953 PTGDR EXON Missense_R332Q exm2251830 14 52781299 [A/G] NM_000956 PTGER2 EXON Synonymous_E11E exm1101918 14 52781513 [T/G] NM_000956 PTGER2 EXON Missense_C83G exm1101941 14 52793949 [A/G] NM_000956 PTGER2 EXON Missense_Y285C exm2251831 14 52793962 [G/C] NM_000956 PTGER2 EXON Synonymous_T289T exm2272172 14 52884355 [T/C] exm1101954 14 52899036 [A/C] NM_001160047,NM_020784 TXNDC16,TXNDC16 EXON Missense_S817A,Missense_S822A exm1101959 14 52899101 [T/C] NM_001160047,NM_020784 TXNDC16,TXNDC16 EXON Nonsense_W795X,Nonsense_W800X exm1101960 14 52899110 [A/C] NM_001160047,NM_020784 TXNDC16,TXNDC16 EXON Missense_I792R,Missense_I797R exm1101962 14 52899128 [A/G] NM_001160047,NM_020784 TXNDC16,TXNDC16 EXON Missense_P786L,Missense_P791L exm1101967 14 52905931 [A/T] NM_001160047,NM_020784 TXNDC16,TXNDC16 EXON Missense_N724Y,Missense_N729Y exm1101971 14 52906029 [T/A] NM_001160047,NM_020784 TXNDC16,TXNDC16 EXON Missense_L691Q,Missense_L696Q exm1101990 14 52922071 [T/G] NM_001160047,NM_020784 TXNDC16,TXNDC16 EXON Missense_I600L,Missense_I605L exm1101994 14 52922151 [A/G] NM_001160047,NM_020784 TXNDC16,TXNDC16 EXON Missense_A573V,Missense_A578V exm1101999 14 52923820 [T/C] NM_001160047,NM_020784 TXNDC16,TXNDC16 EXON Missense_D559G,Missense_D564G exm1102000 14 52936820 [T/A] NM_001160047,NM_020784 TXNDC16,TXNDC16 EXON Missense_Y513F,Missense_Y518F exm1814505 14 52936889 [T/G] NM_001160047,NM_020784 TXNDC16,TXNDC16 EXON Missense_N490T,Missense_N495T exm1814506 14 52936891 [C/G] NM_001160047,NM_020784 TXNDC16,TXNDC16 EXON Synonymous_L489L,Synonymous_L494L exm1102004 14 52937255 [T/C] NM_001160047,NM_020784 TXNDC16,TXNDC16 EXON Missense_E481K,Missense_E486K exm1102006 14 52937315 [T/C] NM_001160047,NM_020784 TXNDC16,TXNDC16 EXON Missense_I461V,Missense_I466V exm1102008 14 52937351 [T/C] NM_001160047,NM_020784 TXNDC16,TXNDC16 EXON Missense_D449N,Missense_D454N exm1102014 14 52948990 [T/C] NM_001160047,NM_020784 TXNDC16,TXNDC16 EXON Missense_A419T,Missense_A424T exm2251833 14 52948997 [T/C] NM_001160047,NM_020784 TXNDC16,TXNDC16 EXON Synonymous_V416V,Synonymous_V421V exm1102018 14 52949579 [T/C] NM_001160047,NM_020784 TXNDC16,TXNDC16 EXON Missense_V400M,Missense_V405M exm1102020 14 52949584 [C/G] NM_001160047,NM_020784 TXNDC16,TXNDC16 EXON Missense_A398G,Missense_A403G exm1102024 14 52949654 [C/G] NM_001160047,NM_020784 TXNDC16,TXNDC16 EXON Missense_V375L,Missense_V380L exm1102028 14 52955121 [T/C] NM_001160047,NM_020784 TXNDC16,TXNDC16 EXON Missense_I351M,Missense_I356M exm1102030 14 52955153 [A/G] NM_001160047,NM_020784 TXNDC16,TXNDC16 EXON Missense_H341Y,Missense_H346Y exm1102033 14 52955198 [A/G] NM_001160047,NM_020784 TXNDC16,TXNDC16 EXON Missense_P326S,Missense_P331S exm1102036 14 52957155 [A/G] NM_001160047,NM_020784 TXNDC16,TXNDC16 EXON Missense_V308A,Missense_V313A exm1102046 14 52977993 [G/C] NM_001160047,NM_020784 TXNDC16,TXNDC16 EXON Missense_H236D,Missense_H241D exm1102050 14 52981647 [T/G] NM_001160047,NM_020784 TXNDC16,TXNDC16 EXON Missense_T181P,Missense_T186P exm1102052 14 52981664 [C/G] NM_001160047,NM_020784 TXNDC16,TXNDC16 EXON Missense_A175G,Missense_A180G exm1102057 14 52985950 [T/A] NM_001160047,NM_020784 TXNDC16,TXNDC16 EXON Missense_N147Y,Missense_N152Y exm1102061 14 52985997 [T/C] NM_001160047,NM_020784 TXNDC16,TXNDC16 EXON Silent,Missense_S136N exm1102064 14 53003450 [T/C] NM_001160047,NM_020784 TXNDC16,TXNDC16 EXON Missense_A127T,Missense_A127T exm1102067 14 53004370 [A/T] NM_001160047,NM_020784 TXNDC16,TXNDC16 EXON Missense_E88D,Missense_E88D exm1102073 14 53010259 [T/C] NM_001160047,NM_020784 TXNDC16,TXNDC16 EXON Missense_N6S,Missense_N6S exm1102088 14 53020155 [T/C] NM_001099652 GPR137C EXON Missense_T97I exm1102094 14 53020205 [T/C] NM_001099652 GPR137C EXON Missense_R114W exm2251834 14 53023607 [A/G] NM_001099652 GPR137C Silent exm2222510 14 53065023 [C/G] NM_001099652 GPR137C EXON Missense_D160H exm1102106 14 53066959 [T/C] NM_001099652 GPR137C EXON Missense_L206S exm1102109 14 53098902 [A/G] NM_001099652 GPR137C EXON Missense_V248I exm1102114 14 53100283 [A/G] NM_001099652 GPR137C EXON Missense_I301M exm1102123 14 53101781 [A/G] NM_001099652 GPR137C EXON Missense_S413N exm1814586 14 53112911 [A/G] NM_014584 ERO1L EXON Missense_T436I exm1102140 14 53119875 [T/C] NM_014584 ERO1L EXON Missense_E323K exm1102152 14 53124867 [T/C] NM_014584 ERO1L EXON Synonymous_E230E exm1102171 14 53145162 [A/G] NM_014584 ERO1L EXON Missense_A116V exm1102185 14 53162133 [T/C] NM_014584 ERO1L EXON Missense_G23R exm1102187 14 53173920 [T/G] NM_002806 PSMC6 EXON Nonsense_E9X exm1102215 14 53190694 [A/G] NM_002806 PSMC6 EXON Missense_I345V exm1102234 14 53217443 [A/G] NM_001130701,NM_145251 STYX,STYX EXON Missense_I63V,Missense_I63V exm1102241 14 53224593 [T/G] NM_001130701,NM_145251 STYX,STYX EXON Missense_A128S,Missense_A128S exm1102245 14 53235651 [A/G] NM_001130701,NM_145251 STYX,STYX EXON Missense_G200S,Missense_G200S exm2274688 14 53245082 [A/C] NM_198066 GNPNAT1 EXON Missense_F168V exm1102282 14 53326403 [A/G] NM_001134999,NM_006832,NM_001135000 FERMT2,FERMT2,FERMT2 EXON Missense_I593T,Missense_I586T,Missense_I593T exm1102286 14 53327064 [A/C] NM_001134999,NM_006832,NM_001135000 FERMT2,FERMT2,FERMT2 EXON Missense_I581M,Missense_I574M,Missense_I581M exm1102292 14 53331183 [A/G] NM_001134999,NM_006832,NM_001135000 FERMT2,FERMT2,FERMT2 EXON Missense_T513M,Missense_T513M,Missense_T513M exm1102319 14 53348001 [T/C] NM_001134999,NM_006832,NM_001135000 FERMT2,FERMT2,FERMT2 EXON Missense_K238R,Missense_K238R,Missense_K238R exm1102322 14 53348047 [T/C] NM_001134999,NM_006832,NM_001135000 FERMT2,FERMT2,FERMT2 EXON Missense_V223I,Missense_V223I,Missense_V223I exm1102332 14 53360135 [T/G] NM_001134999,NM_006832,NM_001135000 FERMT2,FERMT2,FERMT2 EXON Missense_H134Q,Missense_H134Q,Missense_H134Q exm1102342 14 53417220 [A/G] NM_001134999,NM_006832,NM_001135000 FERMT2,FERMT2,FERMT2 EXON Missense_H23Y,Missense_H23Y,Missense_H23Y exm2222517 14 53513500 [T/A] NM_030637,NM_001160148,NM_001160147 DDHD1,DDHD1,DDHD1 EXON Missense_L869I,Missense_L897I,Missense_L876I exm2274689 14 53513535 [T/C] NM_030637,NM_001160148,NM_001160147 DDHD1,DDHD1,DDHD1 EXON Missense_Y857C,Missense_Y885C,Missense_Y864C exm1102356 14 53518563 [A/G] NM_030637,NM_001160148,NM_001160147 DDHD1,DDHD1,DDHD1 EXON Silent,Synonymous_L840L,Silent exm1102360 14 53518639 [A/C] NM_030637,NM_001160148,NM_001160147 DDHD1,DDHD1,DDHD1 EXON Silent,Missense_R815I,Silent exm1102386 14 53529718 [T/C] NM_030637,NM_001160148,NM_001160147 DDHD1,DDHD1,DDHD1 EXON Missense_R570Q,Missense_R570Q,Missense_R577Q exm1102387 14 53529754 [T/C] NM_030637,NM_001160148,NM_001160147 DDHD1,DDHD1,DDHD1 EXON Missense_Q558R,Missense_Q558R,Missense_Q565R exm1102404 14 53558575 [A/G] NM_030637,NM_001160148,NM_001160147 DDHD1,DDHD1,DDHD1 EXON Missense_T406I,Missense_T406I,Missense_T413I exm1102409 14 53560055 [T/G] NM_030637,NM_001160148,NM_001160147 DDHD1,DDHD1,DDHD1 EXON Missense_Q374K,Missense_Q374K,Missense_Q381K exm1102418 14 53570437 [C/G] NM_030637,NM_001160148,NM_001160147 DDHD1,DDHD1,DDHD1 EXON Missense_D326H,Missense_D326H,Missense_D326H exm1102419 14 53570472 [T/C] NM_030637,NM_001160148,NM_001160147 DDHD1,DDHD1,DDHD1 EXON Missense_N314S,Missense_N314S,Missense_N314S exm1102430 14 53619084 [T/C] NM_030637,NM_001160148,NM_001160147 DDHD1,DDHD1,DDHD1 EXON Missense_E245K,Missense_E245K,Missense_E245K exm2267709 14 53657823 [A/G] exm-rs1380131 14 54072858 [T/C] exm2267660 14 54107791 [A/G] exm-rs169748 14 54186083 [A/G] exm-rs12431733 14 54290830 [T/C] exm-rs4444235 14 54410919 [T/C] exm1102468 14 54417117 [T/C] NM_001202,NM_130851,NM_130850 BMP4,BMP4,BMP4 EXON Missense_R287H,Missense_R287H,Missense_R287H exm1814739 14 54417226 [A/G] NM_001202,NM_130851,NM_130850 BMP4,BMP4,BMP4 EXON Missense_H251Y,Missense_H251Y,Missense_H251Y exm1102471 14 54417243 [T/C] NM_001202,NM_130851,NM_130850 BMP4,BMP4,BMP4 EXON Missense_R245Q,Missense_R245Q,Missense_R245Q exm1102473 14 54417301 [A/G] NM_001202,NM_130851,NM_130850 BMP4,BMP4,BMP4 EXON Missense_R226W,Missense_R226W,Missense_R226W exm1102474 14 54417304 [T/C] NM_001202,NM_130851,NM_130850 BMP4,BMP4,BMP4 EXON Missense_T225A,Missense_T225A,Missense_T225A exm1102484 14 54417522 [A/G] NM_001202,NM_130851,NM_130850 BMP4,BMP4,BMP4 EXON Missense_V152A,Missense_V152A,Missense_V152A exm1102498 14 54418817 [G/C] NM_001202,NM_130851,NM_130850 BMP4,BMP4,BMP4 EXON Missense_A42P,Missense_A42P,Missense_A42P exm2272173 14 54437832 [T/G] exm2272084 14 54648237 [T/C] exm-rs4293296 14 54857286 [A/G] exm1102509 14 54866625 [A/G] NM_001130851,NM_005192 CDKN3,CDKN3 EXON Missense_Q8R,Missense_Q8R exm1102521 14 54878330 [A/G] NM_001130851,NM_005192 CDKN3,CDKN3 EXON Missense_I68V,Missense_I108V exm1102523 14 54878388 [T/C] NM_001130851,NM_005192 CDKN3,CDKN3 EXON Missense_T87I,Missense_T127I exm1814869 14 54884623 [A/T] NM_001130851,NM_005192 CDKN3,CDKN3 EXON Missense_D129V,Missense_D169V exm1102536 14 54886715 [G/C] NM_001130851,NM_005192 CDKN3,CDKN3 EXON Nonsense_Y146X,Nonsense_Y186X exm1814883 14 54950395 [T/G] NM_004124 GMFB EXON Missense_I32L exm1102585 14 54996779 [T/G] NM_006568 CGRRF1 EXON Missense_L86W exm1102586 14 54996800 [A/C] NM_006568 CGRRF1 EXON Missense_D93A exm1102587 14 54996872 [A/G] NM_006568 CGRRF1 EXON Missense_C117Y exm1102594 14 54997751 [T/C] NM_006568 CGRRF1 EXON Missense_R185W exm1102599 14 55004449 [A/G] NM_006568 CGRRF1 EXON Missense_V194M exm1102614 14 55005014 [T/G] NM_006568 CGRRF1 EXON Missense_Q304H exm2267661 14 55037156 [A/G] NM_001161576,NM_015589 SAMD4A,SAMD4A Silent,Silent exm2274690 14 55168869 [A/G] NM_001161576,NM_015589 SAMD4A,SAMD4A EXON Missense_D96N,Missense_D96N exm1102635 14 55168914 [G/C] NM_001161576,NM_015589 SAMD4A,SAMD4A EXON Missense_H111D,Missense_H111D exm1102645 14 55169164 [A/G] NM_001161576,NM_015589 SAMD4A,SAMD4A EXON Missense_R194Q,Missense_R194Q exm1102652 14 55169280 [A/G] NM_001161576,NM_015589 SAMD4A,SAMD4A EXON Missense_G233R,Missense_G233R exm1102653 14 55169289 [A/C] NM_001161576,NM_015589 SAMD4A,SAMD4A EXON Missense_T236P,Missense_T236P exm1102656 14 55203802 [T/C] NM_001161576,NM_015589 SAMD4A,SAMD4A EXON Silent,Missense_M259T exm1102658 14 55203876 [A/C] NM_001161576,NM_015589 SAMD4A,SAMD4A EXON Silent,Missense_L284I exm1102668 14 55218202 [A/G] NM_001161576,NM_015589 SAMD4A,SAMD4A EXON Missense_I287V,Missense_I375V exm-rs1957358 14 55222475 [T/C] NM_001161576,NM_015589,NM_001161577 SAMD4A,SAMD4A,SAMD4A Silent,Silent,Silent exm1102672 14 55226890 [T/G] NM_001161576,NM_015589,NM_001161577 SAMD4A,SAMD4A,SAMD4A EXON Missense_E308D,Missense_E396D,Silent exm1102678 14 55226975 [A/C] NM_001161576,NM_015589,NM_001161577 SAMD4A,SAMD4A,SAMD4A EXON Missense_P337T,Missense_P425T,Missense_P16T exm1102685 14 55227032 [A/G] NM_001161576,NM_015589,NM_001161577 SAMD4A,SAMD4A,SAMD4A EXON Missense_E356K,Missense_E444K,Missense_E35K exm1102692 14 55227200 [A/G] NM_001161576,NM_015589,NM_001161577 SAMD4A,SAMD4A,SAMD4A EXON Missense_V412I,Missense_V500I,Missense_V91I exm1102711 14 55241701 [A/G] NM_001161576,NM_015589,NM_001161577 SAMD4A,SAMD4A,SAMD4A EXON Missense_G501S,Missense_G589S,Missense_G180S exm1102731 14 55251159 [T/C] NM_001161576,NM_015589,NM_001161577 SAMD4A,SAMD4A,SAMD4A EXON Silent,Silent,Nonsense_Q307X exm2222523 14 55251338 [A/G] NM_001161576,NM_015589,NM_001161577 SAMD4A,SAMD4A,SAMD4A EXON Missense_D622N,Missense_D710N,Missense_D337N exm-rs8022503 14 55265828 [T/C] exm1102752 14 55310817 [T/C] NM_001024024,NM_001024070,NM_001024071,NM_000161 GCH1,GCH1,GCH1,GCH1 EXON Missense_K224R,Silent,Silent,Missense_K224R exm1102753 14 55312486 [A/G] NM_001024024,NM_001024070,NM_001024071,NM_000161 GCH1,GCH1,GCH1,GCH1 EXON Missense_T209I,Missense_T209M,Missense_T209M,Missense_T209I exm1102754 14 55312519 [T/C] NM_001024024,NM_001024070,NM_001024071,NM_000161 GCH1,GCH1,GCH1,GCH1 EXON Missense_R198Q,Missense_R198Q,Missense_R198Q,Missense_R198Q exm1102769 14 55369176 [A/G] NM_001024024,NM_001024070,NM_001024071,NM_000161 GCH1,GCH1,GCH1,GCH1 EXON Missense_P69L,Missense_P69L,Missense_P69L,Missense_P69L exm1102777 14 55408252 [A/G] NM_007086,NM_001008396 WDHD1,WDHD1 EXON Missense_S1116P,Missense_S993P exm1102781 14 55408294 [T/C] NM_007086,NM_001008396 WDHD1,WDHD1 EXON Missense_E1102K,Missense_E979K exm1102787 14 55408399 [T/G] NM_007086,NM_001008396 WDHD1,WDHD1 EXON Missense_N1067H,Missense_N944H exm1814987 14 55411064 [T/C] NM_007086,NM_001008396 WDHD1,WDHD1 EXON Missense_T1059A,Missense_T936A exm1102789 14 55411082 [A/G] NM_007086,NM_001008396 WDHD1,WDHD1 EXON Nonsense_R1053X,Nonsense_R930X exm1102796 14 55422318 [A/G] NM_007086,NM_001008396 WDHD1,WDHD1 EXON Missense_T1004I,Missense_T881I exm1102802 14 55423787 [T/C] NM_007086,NM_001008396 WDHD1,WDHD1 EXON Missense_I961V,Missense_I838V exm1102808 14 55429252 [T/C] NM_007086,NM_001008396 WDHD1,WDHD1 EXON Missense_K889E,Missense_K766E exm1102827 14 55429869 [C/G] NM_007086,NM_001008396 WDHD1,WDHD1 EXON Missense_E778Q,Missense_E655Q exm1102828 14 55433194 [A/G] NM_007086,NM_001008396 WDHD1,WDHD1 EXON Missense_A770V,Missense_A647V exm1102840 14 55448387 [T/C] NM_007086,NM_001008396 WDHD1,WDHD1 EXON Missense_G645E,Missense_G522E exm1102842 14 55448409 [C/G] NM_007086,NM_001008396 WDHD1,WDHD1 EXON Missense_P638A,Missense_P515A exm1102843 14 55451527 [C/G] NM_007086,NM_001008396 WDHD1,WDHD1 EXON Missense_G607A,Missense_G484A exm1102854 14 55455876 [T/C] NM_007086,NM_001008396 WDHD1,WDHD1 EXON Missense_I466V,Missense_I343V exm1102858 14 55457987 [A/G] NM_007086,NM_001008396 WDHD1,WDHD1 EXON Missense_R429W,Missense_R306W exm1102868 14 55462356 [T/C] NM_007086,NM_001008396 WDHD1,WDHD1 EXON Missense_R373Q,Missense_R250Q exm1102870 14 55462404 [T/C] NM_007086,NM_001008396 WDHD1,WDHD1 EXON Missense_D357G,Missense_D234G exm1102873 14 55462462 [A/G] NM_007086,NM_001008396 WDHD1,WDHD1 EXON Missense_F338L,Missense_F215L exm1102874 14 55462483 [T/C] NM_007086,NM_001008396 WDHD1,WDHD1 EXON Missense_D331N,Missense_D208N exm1102878 14 55467337 [T/C] NM_007086,NM_001008396 WDHD1,WDHD1 EXON Missense_I276V,Missense_I153V exm1102887 14 55467701 [T/C] NM_007086,NM_001008396 WDHD1,WDHD1 EXON Missense_I235V,Missense_I112V exm1102888 14 55467712 [T/G] NM_007086,NM_001008396 WDHD1,WDHD1 Silent,Silent exm1102889 14 55468812 [T/A] NM_007086,NM_001008396 WDHD1,WDHD1 EXON Missense_Q231L,Missense_Q108L exm1102896 14 55475038 [T/G] NM_007086,NM_001008396 WDHD1,WDHD1 EXON Missense_D167A,Missense_D44A exm1102922 14 55509919 [A/G] NM_199421,NM_080867 SOCS4,SOCS4 EXON Missense_G54S,Missense_G54S exm1102930 14 55510054 [A/G] NM_199421,NM_080867 SOCS4,SOCS4 EXON Missense_V99M,Missense_V99M exm1102935 14 55510132 [A/C] NM_199421,NM_080867 SOCS4,SOCS4 EXON Missense_S125R,Missense_S125R exm1102948 14 55510421 [A/C] NM_199421,NM_080867 SOCS4,SOCS4 EXON Missense_N221T,Missense_N221T exm2251843 14 55510794 [T/C] NM_199421,NM_080867 SOCS4,SOCS4 EXON Synonymous_D345D,Synonymous_D345D exm1102963 14 55510996 [T/C] NM_199421,NM_080867 SOCS4,SOCS4 EXON Missense_S413P,Missense_S413P exm1102964 14 55511065 [T/C] NM_199421,NM_080867 SOCS4,SOCS4 EXON Missense_P436S,Missense_P436S exm1102978 14 55529379 [T/C] NM_144578 MAPK1IP1L EXON Missense_A21V exm2251844 14 55529539 [T/C] NM_144578 MAPK1IP1L EXON Synonymous_S74S exm1103012 14 55604109 [A/G] NM_002306,NM_001177388,NR_003225 LGALS3,LGALS3,LGALS3 EXON Synonymous_S6S,Synonymous_S6S,Silent exm1103026 14 55604902 [A/C] NM_002306,NM_001177388,NR_003225 LGALS3,LGALS3,LGALS3 EXON Missense_A53D,Missense_A53D,Silent exm1103030 14 55604935 [A/C] NM_002306,NM_001177388,NR_003225 LGALS3,LGALS3,LGALS3 EXON Missense_P64H,Missense_P64H,Silent exm1103035 14 55604998 [T/G] NM_002306,NM_001177388,NR_003225 LGALS3,LGALS3,LGALS3 EXON Missense_G85V,Missense_G85V,Silent exm1103037 14 55605036 [A/C] NM_002306,NM_001177388,NR_003225 LGALS3,LGALS3,LGALS3 EXON Missense_T98P,Missense_T98P,Silent exm1103041 14 55605046 [A/C] NM_002306,NM_001177388,NR_003225 LGALS3,LGALS3,LGALS3 EXON Missense_Y101S,Missense_Y101S,Silent exm1103054 14 55609418 [A/G] NM_002306,NM_001177388,NR_003225 LGALS3,LGALS3,LGALS3 EXON Missense_R183K,Silent,Silent exm1103055 14 55609433 [T/C] NM_002306,NM_001177388,NR_003225 LGALS3,LGALS3,LGALS3 EXON Missense_S188L,Silent,Silent exm1103058 14 55611839 [A/T] NM_002306,NM_001177388,NR_003225 LGALS3,LGALS3,LGALS3 EXON Missense_Q201H,Silent,Silent exm1103062 14 55611955 [T/C] NM_002306,NM_001177388,NR_003225 LGALS3,LGALS3,LGALS3 EXON Missense_I240T,Silent,Silent exm1103072 14 55618479 [A/G] NM_001146015,NM_014750 DLGAP5,DLGAP5 EXON Missense_P768S,Missense_P768S exm1103075 14 55618524 [C/G] NM_001146015,NM_014750 DLGAP5,DLGAP5 EXON Missense_E753Q,Missense_E753Q exm1103080 14 55619367 [T/C] NM_001146015,NM_014750 DLGAP5,DLGAP5 Silent,Silent exm1103083 14 55621357 [A/T] NM_001146015,NM_014750 DLGAP5,DLGAP5 EXON Missense_F681I,Missense_F681I exm1815106 14 55621364 [G/C] NM_001146015,NM_014750 DLGAP5,DLGAP5 EXON Missense_K678N,Missense_K678N exm1103093 14 55625318 [T/C] NM_001146015,NM_014750 DLGAP5,DLGAP5 EXON Missense_V599M,Missense_V599M exm1103109 14 55636259 [A/G] NM_001146015,NM_014750 DLGAP5,DLGAP5 EXON Missense_T469I,Missense_T469I exm1103112 14 55637459 [C/G] NM_001146015,NM_014750 DLGAP5,DLGAP5 EXON Missense_E450Q,Missense_E450Q exm1103113 14 55637473 [G/C] NM_001146015,NM_014750 DLGAP5,DLGAP5 EXON Missense_T445S,Missense_T445S exm1103124 14 55642696 [A/G] NM_001146015,NM_014750 DLGAP5,DLGAP5 EXON Missense_C364R,Missense_C364R exm1103128 14 55643828 [T/C] NM_001146015,NM_014750 DLGAP5,DLGAP5 EXON Missense_N334S,Missense_N334S exm1103129 14 55643857 [T/G] NM_001146015,NM_014750 DLGAP5,DLGAP5 EXON Missense_Q324H,Missense_Q324H exm1103139 14 55647433 [T/C] NM_001146015,NM_014750 DLGAP5,DLGAP5 EXON Missense_Q215R,Missense_Q215R exm1103143 14 55647982 [A/G] NM_001146015,NM_014750 DLGAP5,DLGAP5 EXON Missense_P177S,Missense_P177S exm1103148 14 55649099 [T/C] NM_001146015,NM_014750 DLGAP5,DLGAP5 EXON Missense_E162K,Missense_E162K exm1103149 14 55649117 [T/G] NM_001146015,NM_014750 DLGAP5,DLGAP5 EXON Missense_K156Q,Missense_K156Q exm1103152 14 55650364 [T/C] NM_001146015,NM_014750 DLGAP5,DLGAP5 EXON Missense_G116R,Missense_G116R exm1103159 14 55655692 [T/C] NM_001146015,NM_014750 DLGAP5,DLGAP5 EXON Missense_G69E,Missense_G69E exm1103162 14 55655717 [T/C] NM_001146015,NM_014750 DLGAP5,DLGAP5 EXON Missense_V61I,Missense_V61I exm1815145 14 55655744 [T/C] NM_001146015,NM_014750 DLGAP5,DLGAP5 EXON Missense_I52V,Missense_I52V exm1103165 14 55655856 [T/C] NM_001146015,NM_014750 DLGAP5,DLGAP5 EXON Missense_I14M,Missense_I14M exm1103166 14 55655872 [T/C] NM_001146015,NM_014750 DLGAP5,DLGAP5 EXON Missense_R9Q,Missense_R9Q exm1103181 14 55817352 [A/G] NM_017943,NM_152231 FBXO34,FBXO34 EXON Missense_S82G,Missense_S82G exm1103186 14 55817569 [T/C] NM_017943,NM_152231 FBXO34,FBXO34 EXON Missense_S154L,Missense_S154L exm1103202 14 55817998 [A/G] NM_017943,NM_152231 FBXO34,FBXO34 EXON Missense_R297H,Missense_R297H exm1103209 14 55818102 [A/G] NM_017943,NM_152231 FBXO34,FBXO34 EXON Missense_V332I,Missense_V332I exm1103213 14 55818162 [T/C] NM_017943,NM_152231 FBXO34,FBXO34 EXON Missense_P352S,Missense_P352S exm1103221 14 55818286 [T/C] NM_017943,NM_152231 FBXO34,FBXO34 EXON Missense_S393L,Missense_S393L exm2251845 14 55818395 [A/G] NM_017943,NM_152231 FBXO34,FBXO34 EXON Synonymous_T429T,Synonymous_T429T exm1103225 14 55818395 [A/G] NM_017943,NM_152231 FBXO34,FBXO34 EXON Synonymous_T429T,Synonymous_T429T exm1103226 14 55818403 [T/C] NM_017943,NM_152231 FBXO34,FBXO34 EXON Missense_V432A,Missense_V432A exm1103228 14 55818472 [A/G] NM_017943,NM_152231 FBXO34,FBXO34 EXON Missense_C455Y,Missense_C455Y exm1103229 14 55818514 [T/C] NM_017943,NM_152231 FBXO34,FBXO34 EXON Missense_S469F,Missense_S469F exm1103230 14 55818517 [T/A] NM_017943,NM_152231 FBXO34,FBXO34 EXON Missense_I470N,Missense_I470N exm1103236 14 55818706 [T/C] NM_017943,NM_152231 FBXO34,FBXO34 EXON Missense_L533P,Missense_L533P exm1103251 14 55819219 [T/G] NM_017943,NM_152231 FBXO34,FBXO34 EXON Missense_G704V,Missense_G704V exm1103259 14 55836420 [T/C] NM_014924 ATG14 EXON Missense_A466T exm1103261 14 55836434 [A/G] NM_014924 ATG14 EXON Missense_A461V exm1815164 14 55836545 [A/C] NM_014924 ATG14 EXON Missense_V424G exm1103272 14 55844598 [A/G] NM_014924 ATG14 EXON Missense_P371S exm1103302 14 55878366 [T/C] NM_014924 ATG14 EXON Missense_V59I exm1103306 14 55878467 [A/T] NM_014924 ATG14 EXON Missense_D25V exm1815188 14 55878516 [A/C] NM_014924 ATG14 EXON Missense_A9S exm1103315 14 55890922 [A/G] NM_199047 TBPL2 EXON Nonsense_R336X exm1103333 14 55900412 [A/G] NM_199047 TBPL2 EXON Nonsense_R242X exm1103337 14 55903280 [A/G] NM_199047 TBPL2 EXON Nonsense_Q203X exm1103339 14 55903340 [T/C] NM_199047 TBPL2 EXON Missense_I183V exm1103341 14 55903361 [T/C] NM_199047 TBPL2 EXON Missense_D176N exm1103346 14 55903474 [G/C] NM_199047 TBPL2 EXON Missense_S138T exm1103357 14 55903657 [A/G] NM_199047 TBPL2 EXON Missense_P77L exm1103361 14 55903716 [A/C] NM_199047 TBPL2 EXON Missense_R57S exm1103377 14 56078911 [C/G] NM_001271014,NM_004986,NM_001079522,NM_001079521,NR_073129,NR_073128 KTN1,KTN1,KTN1,KTN1,KTN1,KTN1 EXON Missense_P49A,Missense_P49A,Missense_P49A,Missense_P49A,Silent,Silent exm1103380 14 56078958 [A/G] NM_001271014,NM_004986,NM_001079522,NM_001079521,NR_073129,NR_073128 KTN1,KTN1,KTN1,KTN1,KTN1,KTN1 EXON Synonymous_K64K,Synonymous_K64K,Synonymous_K64K,Synonymous_K64K,Silent,Silent exm1103399 14 56083244 [T/A] NM_001271014,NM_004986,NM_001079522,NM_001079521,NR_073129,NR_073128 KTN1,KTN1,KTN1,KTN1,KTN1,KTN1 EXON Missense_D178V,Missense_D178V,Missense_D178V,Missense_D178V,Silent,Silent exm2274691 14 56084687 [A/G] NM_001271014,NM_004986,NM_001079522,NM_001079521,NR_073129,NR_073128 KTN1,KTN1,KTN1,KTN1,KTN1,KTN1 EXON Missense_V223I,Missense_V223I,Missense_V223I,Missense_V223I,Silent,Silent exm1103405 14 56084714 [A/G] NM_001271014,NM_004986,NM_001079522,NM_001079521,NR_073129,NR_073128 KTN1,KTN1,KTN1,KTN1,KTN1,KTN1 EXON Missense_T232A,Missense_T232A,Missense_T232A,Missense_T232A,Silent,Silent exm1103414 14 56085987 [T/C] NM_001271014,NM_004986,NM_001079522,NM_001079521,NR_073129,NR_073128 KTN1,KTN1,KTN1,KTN1,KTN1,KTN1 EXON Missense_L307S,Missense_L307S,Missense_L307S,Missense_L307S,Silent,Silent exm1103415 14 56094651 [A/G] NM_001271014,NM_004986,NM_001079522,NM_001079521,NR_073129,NR_073128 KTN1,KTN1,KTN1,KTN1,KTN1,KTN1 EXON Missense_T329A,Missense_T329A,Missense_T329A,Missense_T329A,Silent,Silent exm1103420 14 56094742 [T/C] NM_001271014,NM_004986,NM_001079522,NM_001079521,NR_073129,NR_073128 KTN1,KTN1,KTN1,KTN1,KTN1,KTN1 EXON Missense_T359I,Missense_T359I,Missense_T359I,Missense_T359I,Silent,Silent exm1103430 14 56099974 [T/A] NM_001271014,NM_004986,NM_001079522,NM_001079521,NR_073129,NR_073128 KTN1,KTN1,KTN1,KTN1,KTN1,KTN1 EXON Missense_M415L,Missense_M415L,Missense_M415L,Missense_M415L,Silent,Silent exm1103457 14 56106666 [A/C] NM_001271014,NM_004986,NM_001079522,NM_001079521,NR_073129,NR_073128 KTN1,KTN1,KTN1,KTN1,KTN1,KTN1 EXON Missense_E620A,Missense_E620A,Missense_E620A,Missense_E620A,Silent,Silent exm1103461 14 56106689 [A/G] NM_001271014,NM_004986,NM_001079522,NM_001079521,NR_073129,NR_073128 KTN1,KTN1,KTN1,KTN1,KTN1,KTN1 EXON Missense_D628N,Missense_D628N,Missense_D628N,Missense_D628N,Silent,Silent exm1103462 14 56106698 [A/G] NM_001271014,NM_004986,NM_001079522,NM_001079521,NR_073129,NR_073128 KTN1,KTN1,KTN1,KTN1,KTN1,KTN1 EXON Missense_T631A,Missense_T631A,Missense_T631A,Missense_T631A,Silent,Silent exm1103465 14 56107141 [A/G] NM_001271014,NM_004986,NM_001079522,NM_001079521,NR_073129,NR_073128 KTN1,KTN1,KTN1,KTN1,KTN1,KTN1 EXON Missense_Q655R,Missense_Q655R,Missense_Q655R,Missense_Q655R,Silent,Silent exm1103468 14 56107664 [A/G] NM_001271014,NM_004986,NM_001079522,NM_001079521,NR_073129,NR_073128 KTN1,KTN1,KTN1,KTN1,KTN1,KTN1 EXON Missense_H666R,Missense_H666R,Missense_H666R,Missense_H666R,Silent,Silent exm1103469 14 56107666 [G/C] NM_001271014,NM_004986,NM_001079522,NM_001079521,NR_073129,NR_073128 KTN1,KTN1,KTN1,KTN1,KTN1,KTN1 EXON Missense_E667Q,Missense_E667Q,Missense_E667Q,Missense_E667Q,Silent,Silent exm1103473 14 56108429 [A/T] NM_001271014,NM_004986,NM_001079522,NM_001079521,NR_073129,NR_073128 KTN1,KTN1,KTN1,KTN1,KTN1,KTN1 EXON Missense_K708I,Missense_K708I,Missense_K708I,Missense_K708I,Silent,Silent exm1103474 14 56108430 [A/C] NM_001271014,NM_004986,NM_001079522,NM_001079521,NR_073129,NR_073128 KTN1,KTN1,KTN1,KTN1,KTN1,KTN1 EXON Missense_K708N,Missense_K708N,Missense_K708N,Missense_K708N,Silent,Silent exm1815253 14 56114823 [A/C] NM_001271014,NM_004986,NM_001079522,NM_001079521,NR_073129,NR_073128 KTN1,KTN1,KTN1,KTN1,KTN1,KTN1 EXON Missense_E763A,Missense_E763A,Missense_E763A,Missense_E763A,Silent,Silent exm1103488 14 56117065 [A/G] NM_001271014,NM_004986,NM_001079522,NM_001079521,NR_073129,NR_073128 KTN1,KTN1,KTN1,KTN1,KTN1,KTN1 EXON Missense_K809E,Missense_K809E,Missense_K809E,Missense_K809E,Silent,Silent exm1815259 14 56117108 [A/G] NM_001271014,NM_004986,NM_001079522,NM_001079521,NR_073129,NR_073128 KTN1,KTN1,KTN1,KTN1,KTN1,KTN1 EXON Missense_K823R,Missense_K823R,Missense_K823R,Missense_K823R,Silent,Silent exm1103493 14 56118639 [A/G] NM_001271014,NM_004986,NM_001079522,NM_001079521,NR_073129,NR_073128 KTN1,KTN1,KTN1,KTN1,KTN1,KTN1 EXON Missense_Q866R,Missense_Q866R,Missense_Q843R,Missense_Q866R,Silent,Silent exm1103507 14 56119783 [A/G] NM_001271014,NM_004986,NM_001079522,NM_001079521,NR_073129,NR_073128 KTN1,KTN1,KTN1,KTN1,KTN1,KTN1 EXON Missense_A915T,Missense_A915T,Missense_A892T,Missense_A915T,Silent,Silent exm1103522 14 56128266 [A/G] NM_001271014,NM_004986,NM_001079522,NM_001079521,NR_073129,NR_073128 KTN1,KTN1,KTN1,KTN1,KTN1,KTN1 EXON Missense_S1009N,Missense_S1009N,Missense_S986N,Missense_S1009N,Silent,Silent exm1103523 14 56128287 [A/G] NM_001271014,NM_004986,NM_001079522,NM_001079521,NR_073129,NR_073128 KTN1,KTN1,KTN1,KTN1,KTN1,KTN1 EXON Missense_D1016G,Missense_D1016G,Missense_D993G,Missense_D1016G,Silent,Silent exm1103524 14 56128299 [T/A] NM_001271014,NM_004986,NM_001079522,NM_001079521,NR_073129,NR_073128 KTN1,KTN1,KTN1,KTN1,KTN1,KTN1 EXON Missense_D1020V,Missense_D1020V,Missense_D997V,Missense_D1020V,Silent,Silent exm1103526 14 56130730 [G/C] NM_001271014,NM_004986,NM_001079522,NM_001079521,NR_073129,NR_073128 KTN1,KTN1,KTN1,KTN1,KTN1,KTN1 EXON Missense_L1050V,Silent,Missense_L1027V,Missense_L1050V,Silent,Silent exm2222543 14 56133970 [A/T] NM_001271014,NM_004986,NM_001079522,NM_001079521,NR_073129,NR_073128 KTN1,KTN1,KTN1,KTN1,KTN1,KTN1 EXON Missense_Q1063H,Missense_Q1034H,Missense_Q1040H,Missense_Q1063H,Silent,Silent exm1103535 14 56137504 [A/G] NM_001271014,NM_004986,NM_001079522,NM_001079521,NR_073129,NR_073128 KTN1,KTN1,KTN1,KTN1,KTN1,KTN1 EXON Missense_T1109A,Missense_T1080A,Missense_T1086A,Missense_T1109A,Silent,Silent exm1103550 14 56139686 [A/G] NM_001271014,NM_004986,NM_001079522,NM_001079521,NR_073129,NR_073128 KTN1,KTN1,KTN1,KTN1,KTN1,KTN1 EXON Missense_K1215E,Missense_K1186E,Missense_K1192E,Missense_K1215E,Silent,Silent exm1103562 14 56145134 [T/C] NM_001271014,NM_004986,NM_001079522,NM_001079521,NR_073129,NR_073128 KTN1,KTN1,KTN1,KTN1,KTN1,KTN1 EXON Missense_I1279T,Missense_I1250T,Missense_I1256T,Missense_I1307T,Silent,Silent exm1103564 14 56146290 [C/G] NM_001271014,NM_004986,NM_001079522,NM_001079521,NR_073129,NR_073128 KTN1,KTN1,KTN1,KTN1,KTN1,KTN1 EXON Missense_S1291C,Missense_S1262C,Missense_S1268C,Missense_S1319C,Silent,Silent exm1103570 14 56146356 [T/C] NM_001271014,NM_004986,NM_001079522,NM_001079521,NR_073129,NR_073128 KTN1,KTN1,KTN1,KTN1,KTN1,KTN1 EXON Missense_A1313V,Missense_A1284V,Missense_A1290V,Missense_A1341V,Silent,Silent exm1103576 14 56150818 [A/G] NM_001271014,NM_004986,NM_001079522,NM_001079521,NR_073129,NR_073128 KTN1,KTN1,KTN1,KTN1,KTN1,KTN1 EXON Synonymous_E1329E,Synonymous_E1300E,Synonymous_E1306E,Synonymous_E1357E,Silent,Silent exm2267662 14 56295580 [A/G] exm2260338 14 56381399 [A/G] exm-rs1188184 14 56442412 [A/G] exm-rs398652 14 56525569 [A/G] exm1103580 14 56585432 [A/T] NM_021255 PELI2 EXON Missense_K18N exm1103582 14 56585441 [C/G] NM_021255 PELI2 EXON Missense_E21D exm2251847 14 56594745 [T/C] NM_021255 PELI2 Silent exm1103606 14 56755222 [T/C] NM_021255 PELI2 EXON Missense_T126M exm1103615 14 56757046 [A/G] NM_021255 PELI2 EXON Missense_V190I exm2251848 14 56757093 [T/C] NM_021255 PELI2 EXON Synonymous_P205P exm1103623 14 56757104 [A/G] NM_021255 PELI2 EXON Missense_R209H exm1103634 14 56763459 [A/G] NM_021255 PELI2 EXON Missense_A280T exm1103646 14 56763648 [G/C] NM_021255 PELI2 EXON Missense_P343A exm2251849 14 56763704 [T/G] NM_021255 PELI2 EXON Synonymous_P361P exm1103655 14 56763840 [A/G] NM_021255 PELI2 EXON Missense_E407K exm1815326 14 57046768 [A/C] NM_017799 C14orf101 EXON Missense_P46T exm1815331 14 57052563 [T/C] NM_017799 C14orf101 EXON Missense_R93C exm1103680 14 57052590 [T/G] NM_017799 C14orf101 EXON Nonsense_G102X exm1103687 14 57070589 [A/G] NM_017799 C14orf101 EXON Missense_R134H exm1103699 14 57075836 [C/G] NM_017799 C14orf101 EXON Missense_G217R exm1103700 14 57075855 [T/G] NM_017799 C14orf101 EXON Missense_S223I exm1103701 14 57075872 [A/G] NM_017799 C14orf101 EXON Missense_G229S exm1103702 14 57075920 [T/G] NM_017799 C14orf101 EXON Missense_A245S exm1103719 14 57083902 [A/G] NM_017799 C14orf101 EXON Missense_D315N exm1103730 14 57088317 [A/G] NM_017799 C14orf101 EXON Missense_H432R exm1103731 14 57088325 [A/G] NM_017799 C14orf101 EXON Missense_I435V exm1103738 14 57092112 [A/G] NM_017799 C14orf101 EXON Missense_E471K exm1103739 14 57092117 [G/C] NM_017799 C14orf101 EXON Missense_W472C exm1103746 14 57099733 [T/C] NM_017799 C14orf101 EXON Missense_I523T exm1103748 14 57099820 [T/C] NM_017799 C14orf101 EXON Missense_I552T exm1103749 14 57099859 [A/G] NM_017799 C14orf101 EXON Missense_S565N exm1103766 14 57103302 [A/G] NM_017799 C14orf101 EXON Missense_A619T exm1103768 14 57103316 [T/C] NM_017799 C14orf101 EXON Synonymous_D623D exm1103773 14 57113980 [A/G] NM_017799 C14orf101 EXON Missense_Y630C exm1103774 14 57113991 [G/C] NM_017799 C14orf101 EXON Missense_E634Q exm1103780 14 57114046 [A/G] NM_017799 C14orf101 EXON Missense_R652H exm1103781 14 57114085 [T/C] NM_017799 C14orf101 EXON Missense_S665L exm1103784 14 57114193 [T/C] NM_017799 C14orf101 EXON Missense_L701P exm-rs928108 14 57170474 [A/G] exm1103794 14 57268604 [A/G] NM_021728,NM_001270525,NR_073036,NR_073034,NM_172337,NM_001270523,NM_001270524 OTX2,OTX2,OTX2,OTX2,OTX2,OTX2,OTX2 EXON Missense_T248I,Missense_T248I,Silent,Silent,Missense_T240I,Missense_T240I,Missense_T240I exm1103799 14 57268706 [T/G] NM_021728,NM_001270525,NR_073036,NR_073034,NM_172337,NM_001270523,NM_001270524 OTX2,OTX2,OTX2,OTX2,OTX2,OTX2,OTX2 EXON Missense_T214N,Missense_T214N,Silent,Silent,Missense_T206N,Missense_T206N,Missense_T206N exm1103811 14 57268904 [A/G] NM_021728,NM_001270525,NR_073036,NR_073034,NM_172337,NM_001270523,NM_001270524 OTX2,OTX2,OTX2,OTX2,OTX2,OTX2,OTX2 EXON Missense_P148L,Missense_P148L,Silent,Silent,Missense_P140L,Missense_P140L,Missense_P140L exm-rs17719756 14 57454439 [T/C] exm2272088 14 57602528 [T/G] exm2260339 14 57607067 [T/C] exm2273516 14 57672715 [T/C] NM_006544 EXOC5 EXON Silent exm2273517 14 57675185 [T/C] NM_006544 EXOC5 EXON Silent exm1103822 14 57675380 [T/C] NM_006544 EXOC5 EXON Missense_V692I exm1103836 14 57699391 [A/T] NM_006544 EXOC5 EXON Missense_Y311F exm1103843 14 57700585 [T/G] NM_006544 EXOC5 EXON Missense_N244T exm1103875 14 57714397 [T/G] NM_006544 EXOC5 EXON Missense_L21I exm1103880 14 57736048 [A/G] NR_026895,NM_018229 AP5M1,AP5M1 EXON Silent,Missense_V6M exm1103885 14 57740963 [T/C] NR_026895,NM_018229 AP5M1,AP5M1 EXON Silent,Missense_R26W exm1103886 14 57740964 [A/G] NR_026895,NM_018229 AP5M1,AP5M1 EXON Silent,Missense_R26Q exm1103892 14 57741119 [A/G] NR_026895,NM_018229 AP5M1,AP5M1 EXON Silent,Missense_I78V exm1103895 14 57741237 [T/C] NR_026895,NM_018229 AP5M1,AP5M1 EXON Silent,Missense_S117F exm1103906 14 57741563 [G/C] NR_026895,NM_018229 AP5M1,AP5M1 EXON Silent,Missense_G226R exm1103909 14 57746932 [A/T] NR_026895,NM_018229 AP5M1,AP5M1 EXON Silent,Missense_M247K exm1103914 14 57747114 [T/C] NR_026895,NM_018229 AP5M1,AP5M1 EXON Silent,Missense_F308L exm1103926 14 57749688 [T/G] NR_026895,NM_018229 AP5M1,AP5M1 EXON Silent,Missense_F375L exm1103927 14 57749700 [A/C] NR_026895,NM_018229 AP5M1,AP5M1 EXON Silent,Missense_E379D exm2251852 14 57749870 [A/G] NR_026895,NM_018229 AP5M1,AP5M1 EXON Silent,Synonymous_G405G exm1103932 14 57749913 [A/G] NR_026895,NM_018229 AP5M1,AP5M1 EXON Silent,Missense_D420N exm1103942 14 57755564 [A/G] NR_026895,NM_018229 AP5M1,AP5M1 EXON Silent,Missense_A479T exm1103955 14 57858057 [A/G] NM_001011713 NAA30 EXON Missense_K128E exm2260341 14 57866623 [A/G] NM_001011713 NAA30 Silent exm1103981 14 57938093 [A/C] NM_018168 C14orf105 EXON Nonsense_E291X exm1103982 14 57938096 [T/C] NM_018168 C14orf105 EXON Missense_D290N exm1103986 14 57938138 [A/G] NM_018168 C14orf105 EXON Nonsense_R276X exm1103987 14 57938165 [T/C] NM_018168 C14orf105 EXON Missense_E267K exm1103989 14 57938221 [T/C] NM_018168 C14orf105 EXON Missense_H248R exm1103991 14 57938245 [A/G] NM_018168 C14orf105 EXON Missense_I240T exm1103994 14 57938260 [T/C] NM_018168 C14orf105 EXON Missense_Y235C exm1103998 14 57947314 [A/G] NM_018168 C14orf105 EXON Synonymous_P218P exm1104006 14 57948296 [A/G] NM_018168 C14orf105 EXON Missense_M159T exm1104008 14 57948380 [T/C] NM_018168 C14orf105 Silent exm2222554 14 57949811 [T/C] NM_018168 C14orf105 EXON Missense_R122Q exm1104013 14 57949845 [A/G] NM_018168 C14orf105 EXON Nonsense_R111X exm1104015 14 57949861 [T/A] NM_018168 C14orf105 EXON Missense_E105D exm2276325 14 57960214 [T/A] NM_018168 C14orf105 EXON Missense_T74S exm1104021 14 57960307 [T/C] NM_018168 C14orf105 EXON Missense_T43A exm1104022 14 57960345 [A/C] NM_018168 C14orf105 EXON Missense_R30L exm1104027 14 57960374 [T/G] NM_018168 C14orf105 EXON Missense_N20K exm2264543 14 58038038 [A/C] NM_001206920 SLC35F4 Silent exm1104047 14 58038735 [T/C] NM_001206920 SLC35F4 EXON Missense_I269M exm1104066 14 58048151 [T/C] NM_001206920 SLC35F4 EXON Synonymous_R195R exm1104069 14 58055947 [T/C] NM_001206920 SLC35F4 EXON Missense_M191V exm1104078 14 58056172 [A/G] NM_001206920 SLC35F4 EXON Missense_R116C exm1104082 14 58060707 [T/C] NM_001206920 SLC35F4 EXON Missense_Q80R exm2274692 14 58060791 [A/C] NM_001206920 SLC35F4 EXON Missense_S52I exm-rs10134944 14 58119196 [T/C] NM_001206920 SLC35F4 Silent exm-rs8013190 14 58355048 [A/G] exm-rs1335515 14 58385365 [T/C] exm-rs808225 14 58397916 [A/G] exm1104102 14 58471800 [T/C] NM_001001872 C14orf37 EXON Missense_R741Q exm1104104 14 58471804 [A/G] NM_001001872 C14orf37 EXON Missense_R740C exm1104106 14 58471822 [T/C] NM_001001872 C14orf37 EXON Missense_S734G exm2272089 14 58497641 [T/C] NM_001001872 C14orf37 Silent exm1104128 14 58563694 [C/G] NM_001001872 C14orf37 EXON Missense_Q613E exm1104137 14 58598373 [A/G] NM_001001872 C14orf37 EXON Missense_P563L exm1104145 14 58599847 [A/C] NM_001001872 C14orf37 EXON Missense_V528F exm1104167 14 58604866 [A/G] NM_001001872 C14orf37 EXON Missense_M404T exm1104169 14 58604929 [A/G] NM_001001872 C14orf37 EXON Missense_A383V exm1104170 14 58605043 [A/G] NM_001001872 C14orf37 EXON Missense_T345I exm1104173 14 58605072 [G/C] NM_001001872 C14orf37 EXON Missense_E335D exm1104180 14 58605197 [C/G] NM_001001872 C14orf37 EXON Missense_P294A exm1815591 14 58605436 [T/G] NM_001001872 C14orf37 EXON Missense_E214A exm1104200 14 58605610 [C/G] NM_001001872 C14orf37 EXON Missense_T156S exm1104201 14 58605635 [T/C] NM_001001872 C14orf37 EXON Missense_A148T exm1104204 14 58605734 [T/C] NM_001001872 C14orf37 EXON Missense_T115A exm1104205 14 58605739 [A/G] NM_001001872 C14orf37 EXON Missense_T113I exm1104208 14 58605790 [A/G] NM_001001872 C14orf37 EXON Missense_T96I exm1104218 14 58605952 [A/G] NM_001001872 C14orf37 EXON Missense_A42V exm1815600 14 58605991 [A/G] NM_001001872 C14orf37 EXON Missense_P29L exm1104221 14 58606016 [T/C] NM_001001872 C14orf37 EXON Missense_V21I exm1104229 14 58666970 [A/G] NM_018477 ACTR10 EXON Missense_E12G exm1104231 14 58667012 [A/G] NM_018477 ACTR10 EXON Missense_K26R exm1104233 14 58669637 [A/C] NM_018477 ACTR10 EXON Missense_M48L exm1104252 14 58690406 [T/A] NM_018477 ACTR10 EXON Missense_D234V exm1104254 14 58690513 [T/C] NM_018477 ACTR10 EXON Missense_P243S exm1104255 14 58690570 [A/G] NM_018477 ACTR10 EXON Missense_I262V exm1104261 14 58698844 [A/G] NM_018477 ACTR10 EXON Missense_M311V exm1104285 14 58727738 [T/C] NM_152132,NR_038123,NM_002788 PSMA3,PSMA3,PSMA3 EXON Synonymous_Y152Y,Silent,Synonymous_Y159Y exm1104295 14 58734238 [T/C] NM_152132,NR_038123,NM_002788,NR_029435,NR_029434 PSMA3,PSMA3,PSMA3,FLJ31306,FLJ31306 EXON Missense_I190T,Silent,Missense_I197T,Silent,Silent exm1104297 14 58737143 [A/G] NM_152132,NR_038123,NM_002788,NR_029435,NR_029434 PSMA3,PSMA3,PSMA3,FLJ31306,FLJ31306 EXON Missense_I193V,Silent,Missense_I200V,Silent,Silent exm1104303 14 58737697 [A/C] NM_152132,NR_038123,NM_002788,NR_029435,NR_029434 PSMA3,PSMA3,PSMA3,FLJ31306,FLJ31306 EXON Missense_E228A,Silent,Missense_E235A,Silent,Silent exm1104313 14 58768299 [T/C] NM_023000,NM_023001,NM_002892 ARID4A,ARID4A,ARID4A EXON Missense_A3V,Missense_A3V,Missense_A3V exm1104317 14 58768403 [A/G] NM_023000,NM_023001,NM_002892 ARID4A,ARID4A,ARID4A EXON Missense_V38I,Missense_V38I,Missense_V38I exm1104329 14 58790258 [T/C] NM_023000,NM_023001,NM_002892 ARID4A,ARID4A,ARID4A EXON Missense_R169C,Missense_R169C,Missense_R169C exm1104330 14 58790307 [T/C] NM_023000,NM_023001,NM_002892 ARID4A,ARID4A,ARID4A EXON Missense_T185M,Missense_T185M,Missense_T185M exm1104336 14 58794992 [A/G] NM_023000,NM_023001,NM_002892 ARID4A,ARID4A,ARID4A EXON Missense_K207R,Missense_K207R,Missense_K207R exm1104340 14 58796253 [A/G] NM_023000,NM_023001,NM_002892 ARID4A,ARID4A,ARID4A EXON Missense_I224V,Missense_I224V,Missense_I224V exm1815647 14 58796290 [A/G] NM_023000,NM_023001,NM_002892 ARID4A,ARID4A,ARID4A EXON Missense_N236S,Missense_N236S,Missense_N236S exm1104347 14 58813174 [A/G] NM_023000,NM_023001,NM_002892 ARID4A,ARID4A,ARID4A EXON Missense_N342S,Missense_N342S,Missense_N342S exm1104352 14 58814423 [C/G] NM_023000,NM_023001,NM_002892 ARID4A,ARID4A,ARID4A EXON Missense_H411D,Missense_H411D,Missense_H411D exm1104379 14 58827719 [T/C] NM_023000,NM_023001,NM_002892 ARID4A,ARID4A,ARID4A EXON Missense_P680L,Missense_P680L,Missense_P680L exm1104383 14 58830978 [A/G] NM_023000,NM_023001,NM_002892 ARID4A,ARID4A,ARID4A EXON Missense_N724S,Missense_N724S,Missense_N724S exm1104386 14 58831142 [A/G] NM_023000,NM_023001,NM_002892 ARID4A,ARID4A,ARID4A EXON Missense_T779A,Missense_T779A,Missense_T779A exm1104390 14 58831328 [C/G] NM_023000,NM_023001,NM_002892 ARID4A,ARID4A,ARID4A EXON Missense_A841P,Missense_A841P,Missense_A841P exm1815692 14 58831884 [T/C] NM_023000,NM_023001,NM_002892 ARID4A,ARID4A,ARID4A EXON Missense_T1026M,Missense_T1026M,Missense_T1026M exm1104413 14 58831962 [A/G] NM_023000,NM_023001,NM_002892 ARID4A,ARID4A,ARID4A EXON Missense_N1052S,Missense_N1052S,Missense_N1052S exm2222562 14 58832002 [A/C] NM_023000,NM_023001,NM_002892 ARID4A,ARID4A,ARID4A EXON Missense_R1065S,Missense_R1065S,Missense_R1065S exm1104417 14 58832019 [A/G] NM_023000,NM_023001,NM_002892 ARID4A,ARID4A,ARID4A Silent,Silent,Silent exm1104426 14 58832819 [A/T] NM_023000,NM_023001,NM_002892 ARID4A,ARID4A,ARID4A EXON Silent,Silent,Missense_S1132T exm2267663 14 58838668 [A/G] NM_023000,NM_023001,NM_002892 ARID4A,ARID4A,ARID4A EXON Synonymous_S1191S,Synonymous_S1176S,Synonymous_S1245S exm1104447 14 58863051 [A/G] NM_207377 TOMM20L EXON Missense_G58S exm1104451 14 58869413 [A/G] NM_207377 TOMM20L EXON Missense_K66E exm1815702 14 58869452 [T/C] NM_207377 TOMM20L EXON Missense_R79W exm1104454 14 58874094 [A/G] NM_207377 TOMM20L EXON Missense_E105K exm1104455 14 58874104 [A/G] NM_207377 TOMM20L EXON Missense_R108Q exm1104465 14 58875822 [A/C] NM_012460 TIMM9 EXON Missense_F67C exm1104471 14 58894997 [C/G] NM_001244192,NM_001244190,NM_001244191,NM_001244189,NM_014749 KIAA0586,KIAA0586,KIAA0586,KIAA0586,KIAA0586 EXON Silent,Silent,Silent,Missense_E17D,Missense_E5D exm1104475 14 58895046 [T/C] NM_001244192,NM_001244190,NM_001244191,NM_001244189,NM_014749 KIAA0586,KIAA0586,KIAA0586,KIAA0586,KIAA0586 EXON Silent,Missense_R7C,Silent,Missense_R34C,Missense_R22C exm1104478 14 58895164 [T/C] NM_001244192,NM_001244190,NM_001244191,NM_001244189,NM_014749 KIAA0586,KIAA0586,KIAA0586,KIAA0586,KIAA0586 EXON Silent,Missense_L46S,Silent,Missense_L73S,Missense_L61S exm1815724 14 58896083 [A/T] NM_001244192,NM_001244190,NM_001244191,NM_001244189,NM_014749 KIAA0586,KIAA0586,KIAA0586,KIAA0586,KIAA0586 EXON Silent,Missense_S53T,Silent,Missense_S80T,Missense_S68T exm1104481 14 58896096 [T/C] NM_001244192,NM_001244190,NM_001244191,NM_001244189,NM_014749 KIAA0586,KIAA0586,KIAA0586,KIAA0586,KIAA0586 EXON Silent,Missense_T57I,Silent,Missense_T84I,Missense_T72I exm1104484 14 58896138 [T/C] NM_001244192,NM_001244190,NM_001244191,NM_001244189,NM_014749 KIAA0586,KIAA0586,KIAA0586,KIAA0586,KIAA0586 EXON Missense_M1T,Missense_M71T,Missense_M1T,Missense_M98T,Missense_M86T exm1104487 14 58899160 [C/G] NM_001244192,NM_001244190,NM_001244191,NM_001244189,NM_014749 KIAA0586,KIAA0586,KIAA0586,KIAA0586,KIAA0586 EXON Missense_T47R,Missense_T117R,Missense_T47R,Missense_T144R,Missense_T132R exm1104488 14 58909435 [T/C] NM_001244192,NM_001244190,NM_001244191,NM_001244189,NM_014749,NM_001244193 KIAA0586,KIAA0586,KIAA0586,KIAA0586,KIAA0586,KIAA0586 EXON Missense_M97T,Missense_M126T,Missense_M56T,Missense_M194T,Missense_M141T,Missense_M1T exm1104494 14 58910706 [T/C] NM_001244192,NM_001244190,NM_001244191,NM_001244189,NM_014749,NM_001244193 KIAA0586,KIAA0586,KIAA0586,KIAA0586,KIAA0586,KIAA0586 EXON Missense_V163A,Missense_V192A,Missense_V122A,Missense_V260A,Missense_V207A,Missense_V67A exm1104498 14 58910784 [A/G] NM_001244192,NM_001244190,NM_001244191,NM_001244189,NM_014749,NM_001244193 KIAA0586,KIAA0586,KIAA0586,KIAA0586,KIAA0586,KIAA0586 EXON Missense_R189K,Missense_R218K,Missense_R148K,Missense_R286K,Missense_R233K,Missense_R93K exm1104506 14 58917309 [T/A] NM_001244192,NM_001244190,NM_001244191,NM_001244189,NM_014749,NM_001244193 KIAA0586,KIAA0586,KIAA0586,KIAA0586,KIAA0586,KIAA0586 EXON Missense_E281V,Missense_E310V,Missense_E240V,Missense_E378V,Missense_E325V,Missense_E185V exm1104509 14 58917415 [G/C] NM_001244192,NM_001244190,NM_001244191,NM_001244189,NM_014749,NM_001244193 KIAA0586,KIAA0586,KIAA0586,KIAA0586,KIAA0586,KIAA0586 EXON Missense_R316S,Missense_R345S,Missense_R275S,Missense_R413S,Missense_R360S,Missense_R220S exm1104510 14 58917432 [T/A] NM_001244192,NM_001244190,NM_001244191,NM_001244189,NM_014749,NM_001244193 KIAA0586,KIAA0586,KIAA0586,KIAA0586,KIAA0586,KIAA0586 EXON Missense_E322V,Missense_E351V,Missense_E281V,Missense_E419V,Missense_E366V,Missense_E226V exm1815737 14 58920178 [A/G] NM_001244192,NM_001244190,NM_001244191,NM_001244189,NM_014749,NM_001244193 KIAA0586,KIAA0586,KIAA0586,KIAA0586,KIAA0586,KIAA0586 EXON Missense_E370K,Missense_E399K,Missense_E329K,Missense_E467K,Missense_E414K,Missense_E274K exm1104521 14 58924521 [T/G] NM_001244192,NM_001244190,NM_001244191,NM_001244189,NM_014749,NM_001244193 KIAA0586,KIAA0586,KIAA0586,KIAA0586,KIAA0586,KIAA0586 EXON Missense_Q425H,Missense_Q454H,Missense_Q384H,Missense_Q522H,Missense_Q469H,Missense_Q329H exm1104522 14 58924553 [T/C] NM_001244192,NM_001244190,NM_001244191,NM_001244189,NM_014749,NM_001244193 KIAA0586,KIAA0586,KIAA0586,KIAA0586,KIAA0586,KIAA0586 EXON Missense_T436I,Missense_T465I,Missense_T395I,Missense_T533I,Missense_T480I,Missense_T340I exm1104550 14 58937374 [A/C] NM_001244192,NM_001244190,NM_001244191,NM_001244189,NM_014749,NM_001244193 KIAA0586,KIAA0586,KIAA0586,KIAA0586,KIAA0586,KIAA0586 EXON Missense_A785D,Missense_A814D,Missense_A744D,Missense_A882D,Missense_A753D,Missense_A689D exm1104551 14 58937391 [G/C] NM_001244192,NM_001244190,NM_001244191,NM_001244189,NM_014749,NM_001244193 KIAA0586,KIAA0586,KIAA0586,KIAA0586,KIAA0586,KIAA0586 EXON Missense_L791V,Missense_L820V,Missense_L750V,Missense_L888V,Missense_L759V,Missense_L695V exm1104553 14 58937416 [T/C] NM_001244192,NM_001244190,NM_001244191,NM_001244189,NM_014749,NM_001244193 KIAA0586,KIAA0586,KIAA0586,KIAA0586,KIAA0586,KIAA0586 EXON Missense_L799P,Missense_L828P,Missense_L758P,Missense_L896P,Missense_L767P,Missense_L703P exm1104554 14 58937419 [A/C] NM_001244192,NM_001244190,NM_001244191,NM_001244189,NM_014749,NM_001244193 KIAA0586,KIAA0586,KIAA0586,KIAA0586,KIAA0586,KIAA0586 EXON Missense_P800H,Missense_P829H,Missense_P759H,Missense_P897H,Missense_P768H,Missense_P704H exm1815751 14 58941425 [T/C] NM_001244192,NM_001244190,NM_001244191,NM_001244189,NM_014749,NM_001244193 KIAA0586,KIAA0586,KIAA0586,KIAA0586,KIAA0586,KIAA0586 EXON Missense_P868L,Missense_P897L,Missense_P827L,Missense_P965L,Missense_P836L,Missense_P772L exm1104569 14 58949289 [A/C] NM_001244192,NM_001244190,NM_001244191,NM_001244189,NM_014749,NM_001244193 KIAA0586,KIAA0586,KIAA0586,KIAA0586,KIAA0586,KIAA0586 EXON Missense_N957K,Missense_N986K,Missense_N916K,Missense_N1054K,Missense_N925K,Missense_N861K exm1104573 14 58949339 [A/C] NM_001244192,NM_001244190,NM_001244191,NM_001244189,NM_014749,NM_001244193 KIAA0586,KIAA0586,KIAA0586,KIAA0586,KIAA0586,KIAA0586 EXON Missense_A974D,Missense_A1003D,Missense_A933D,Missense_A1071D,Missense_A942D,Missense_A878D exm1104574 14 58949390 [A/G] NM_001244192,NM_001244190,NM_001244191,NM_001244189,NM_014749,NM_001244193 KIAA0586,KIAA0586,KIAA0586,KIAA0586,KIAA0586,KIAA0586 EXON Missense_G991D,Missense_G1020D,Missense_G950D,Missense_G1088D,Missense_G959D,Missense_G895D exm1104579 14 58953746 [G/C] NM_001244192,NM_001244190,NM_001244191,NM_001244189,NM_014749,NM_001244193 KIAA0586,KIAA0586,KIAA0586,KIAA0586,KIAA0586,KIAA0586 EXON Missense_P1012A,Missense_P1041A,Missense_P971A,Missense_P1109A,Missense_P980A,Missense_P916A exm1104584 14 58953863 [A/C] NM_001244192,NM_001244190,NM_001244191,NM_001244189,NM_014749,NM_001244193 KIAA0586,KIAA0586,KIAA0586,KIAA0586,KIAA0586,KIAA0586 EXON Missense_K1051Q,Missense_K1080Q,Missense_K1010Q,Missense_K1148Q,Missense_K1019Q,Missense_K955Q exm1104585 14 58954674 [T/C] NM_001244192,NM_001244190,NM_001244191,NM_001244189,NM_014749,NM_001244193 KIAA0586,KIAA0586,KIAA0586,KIAA0586,KIAA0586,KIAA0586 EXON Missense_A1081V,Missense_A1110V,Missense_A1040V,Missense_A1178V,Missense_A1049V,Missense_A985V exm1104587 14 58954707 [T/C] NM_001244192,NM_001244190,NM_001244191,NM_001244189,NM_014749,NM_001244193 KIAA0586,KIAA0586,KIAA0586,KIAA0586,KIAA0586,KIAA0586 EXON Missense_I1092T,Missense_I1121T,Missense_I1051T,Missense_I1189T,Missense_I1060T,Missense_I996T exm1104591 14 58955364 [A/G] NM_001244192,NM_001244190,NM_001244191,NM_001244189,NM_014749,NM_001244193 KIAA0586,KIAA0586,KIAA0586,KIAA0586,KIAA0586,KIAA0586 EXON Missense_E1141K,Missense_E1170K,Missense_E1100K,Missense_E1238K,Missense_E1109K,Missense_E1045K exm1104600 14 58955509 [C/G] NM_001244192,NM_001244190,NM_001244191,NM_001244189,NM_014749,NM_001244193 KIAA0586,KIAA0586,KIAA0586,KIAA0586,KIAA0586,KIAA0586 EXON Missense_T1189S,Missense_T1218S,Missense_T1148S,Missense_T1286S,Missense_T1157S,Missense_T1093S exm1104602 14 58955530 [T/C] NM_001244192,NM_001244190,NM_001244191,NM_001244189,NM_014749,NM_001244193 KIAA0586,KIAA0586,KIAA0586,KIAA0586,KIAA0586,KIAA0586 EXON Missense_L1196S,Missense_L1225S,Missense_L1155S,Missense_L1293S,Missense_L1164S,Missense_L1100S exm1104612 14 58958865 [A/G] NM_001244192,NM_001244190,NM_001244191,NM_001244189,NM_014749,NM_001244193 KIAA0586,KIAA0586,KIAA0586,KIAA0586,KIAA0586,KIAA0586 EXON Missense_D1244N,Missense_D1273N,Missense_D1203N,Missense_D1341N,Missense_D1212N,Missense_D1148N exm1104615 14 58958923 [A/G] NM_001244192,NM_001244190,NM_001244191,NM_001244189,NM_014749,NM_001244193 KIAA0586,KIAA0586,KIAA0586,KIAA0586,KIAA0586,KIAA0586 EXON Missense_D1263G,Missense_D1292G,Missense_D1222G,Missense_D1360G,Missense_D1231G,Missense_D1167G exm1104627 14 58979241 [A/G] NM_001244192,NM_001244190,NM_001244191,NM_001244189,NM_014749,NM_001244193 KIAA0586,KIAA0586,KIAA0586,KIAA0586,KIAA0586,KIAA0586 EXON Missense_Y1398C,Missense_Y1427C,Missense_Y1357C,Missense_Y1495C,Missense_Y1366C,Missense_Y1302C exm1104635 14 59006831 [T/C] NM_001244192,NM_001244190,NM_001244191,NM_001244189,NM_014749 KIAA0586,KIAA0586,KIAA0586,KIAA0586,KIAA0586 EXON Missense_P1447L,Missense_P1476L,Missense_P1406L,Missense_P1544L,Missense_P1415L exm1104639 14 59014522 [A/G] NM_001244192,NM_001244190,NM_001244191,NM_001244189,NM_014749 KIAA0586,KIAA0586,KIAA0586,KIAA0586,KIAA0586 EXON Missense_A1463T,Missense_A1492T,Missense_A1422T,Missense_R1588H,Missense_A1431T exm2272176 14 59068964 [T/C] exm1104647 14 59105180 [T/G] NR_046093,NM_016651,NM_001079520 DACT1,DACT1,DACT1 EXON Silent,Missense_G87V,Missense_G87V exm1104652 14 59108427 [T/C] NR_046093,NM_016651,NM_001079520,NR_046095 DACT1,DACT1,DACT1,DACT1 EXON Silent,Missense_A199V,Missense_A199V,Silent exm1104656 14 59111988 [T/G] NR_046093,NM_016651,NM_001079520,NR_046095 DACT1,DACT1,DACT1,DACT1 EXON Silent,Missense_L216W,Silent,Silent exm1815792 14 59112221 [A/G] NR_046093,NM_016651,NM_001079520,NR_046095 DACT1,DACT1,DACT1,DACT1 EXON Silent,Missense_E294K,Missense_E257K,Silent exm1104666 14 59112269 [A/G] NR_046093,NM_016651,NM_001079520,NR_046095 DACT1,DACT1,DACT1,DACT1 EXON Silent,Missense_E310K,Missense_E273K,Silent exm1104669 14 59112382 [G/C] NR_046093,NM_016651,NM_001079520,NR_046095 DACT1,DACT1,DACT1,DACT1 EXON Silent,Missense_Q347H,Missense_Q310H,Silent exm1104670 14 59112388 [A/C] NR_046093,NM_016651,NM_001079520,NR_046095 DACT1,DACT1,DACT1,DACT1 EXON Silent,Missense_K349N,Missense_K312N,Silent exm2222570 14 59112510 [T/C] NR_046093,NM_016651,NM_001079520,NR_046095 DACT1,DACT1,DACT1,DACT1 EXON Silent,Missense_V390A,Missense_V353A,Silent exm1104687 14 59112645 [T/C] NR_046093,NM_016651,NM_001079520,NR_046095 DACT1,DACT1,DACT1,DACT1 EXON Silent,Missense_L435P,Missense_L398P,Silent exm1815796 14 59112668 [A/G] NR_046093,NM_016651,NM_001079520,NR_046095 DACT1,DACT1,DACT1,DACT1 EXON Silent,Missense_A443T,Missense_A406T,Silent exm1104689 14 59112677 [A/G] NR_046093,NM_016651,NM_001079520,NR_046095 DACT1,DACT1,DACT1,DACT1 EXON Silent,Missense_D446N,Missense_D409N,Silent exm1104691 14 59112732 [T/C] NR_046093,NM_016651,NM_001079520,NR_046095 DACT1,DACT1,DACT1,DACT1 EXON Silent,Missense_A464V,Missense_A427V,Silent exm1815800 14 59112926 [A/G] NR_046093,NM_016651,NM_001079520,NR_046095 DACT1,DACT1,DACT1,DACT1 EXON Silent,Missense_A529T,Missense_A492T,Silent exm1104710 14 59113223 [T/G] NR_046093,NM_016651,NM_001079520,NR_046095 DACT1,DACT1,DACT1,DACT1 EXON Silent,Missense_S628A,Missense_S591A,Silent exm1104711 14 59113231 [T/G] NR_046093,NM_016651,NM_001079520,NR_046095 DACT1,DACT1,DACT1,DACT1 EXON Silent,Missense_K630N,Missense_K593N,Silent exm1104715 14 59113313 [T/C] NR_046093,NM_016651,NM_001079520,NR_046095 DACT1,DACT1,DACT1,DACT1 EXON Silent,Missense_H658Y,Missense_H621Y,Silent exm2276326 14 59113376 [T/C] NR_046093,NM_016651,NM_001079520,NR_046095 DACT1,DACT1,DACT1,DACT1 EXON Silent,Missense_W679R,Missense_W642R,Silent exm1104721 14 59113400 [T/C] NR_046093,NM_016651,NM_001079520,NR_046095 DACT1,DACT1,DACT1,DACT1 EXON Silent,Missense_Y687H,Missense_Y650H,Silent exm1104726 14 59113430 [A/G] NR_046093,NM_016651,NM_001079520,NR_046095 DACT1,DACT1,DACT1,DACT1 EXON Silent,Missense_G697S,Missense_G660S,Silent exm1104728 14 59113464 [G/C] NR_046093,NM_016651,NM_001079520,NR_046095 DACT1,DACT1,DACT1,DACT1 EXON Silent,Missense_P708R,Missense_P671R,Silent exm1104729 14 59113493 [A/G] NR_046093,NM_016651,NM_001079520,NR_046095 DACT1,DACT1,DACT1,DACT1 EXON Silent,Missense_A718T,Missense_A681T,Silent exm-rs4901869 14 59334128 [A/G] exm2260343 14 59438034 [A/C] exm2267664 14 59513299 [A/G] exm1104848 14 59787262 [A/G] NM_001270520,NM_014992 DAAM1,DAAM1 EXON Missense_I134V,Missense_I134V exm1104854 14 59789680 [A/G] NM_001270520,NM_014992 DAAM1,DAAM1 EXON Missense_E171K,Missense_E171K exm2272090 14 59790813 [T/C] NM_001270520,NM_014992 DAAM1,DAAM1 Silent,Silent exm1104912 14 59798146 [A/G] NM_001270520,NM_014992 DAAM1,DAAM1 EXON Missense_M594V,Missense_M594V exm1104918 14 59798558 [A/G] NM_001270520,NM_014992 DAAM1,DAAM1 EXON Missense_E630K,Missense_E630K exm1104928 14 59821916 [A/G] NM_001270520,NM_014992 DAAM1,DAAM1 EXON Missense_S797N,Missense_S807N exm1104936 14 59826182 [A/C] NM_001270520,NM_014992 DAAM1,DAAM1 EXON Missense_N865H,Missense_N875H exm1104943 14 59830402 [C/G] NM_001270520,NM_014992 DAAM1,DAAM1 EXON Missense_P910A,Missense_P920A exm1104944 14 59830405 [A/G] NM_001270520,NM_014992 DAAM1,DAAM1 EXON Missense_G911R,Missense_G921R exm1104965 14 59835525 [A/G] NM_001270520,NM_014992 DAAM1,DAAM1 EXON Missense_N1052S,Missense_N1062S exm1104971 14 59930483 [T/C] NM_022571 GPR135 EXON Missense_E488K exm1104973 14 59930503 [A/G] NM_022571 GPR135 EXON Missense_V481A exm1104974 14 59930578 [T/C] NM_022571 GPR135 EXON Missense_D456G exm1104978 14 59930711 [T/C] NM_022571 GPR135 EXON Missense_D412N exm-IND14-59000669 14 59930917 [I/D] NM_022571 GPR135 EXON exm1104988 14 59931005 [T/C] NM_022571 GPR135 EXON Missense_V314M exm1815922 14 59931280 [T/C] NM_022571 GPR135 EXON Missense_G222D exm1104997 14 59931349 [T/G] NM_022571 GPR135 EXON Missense_T199K exm1104999 14 59931373 [T/C] NM_022571 GPR135 EXON Missense_S191N exm1105028 14 59939704 [A/C] NM_144581 L3HYPDH EXON Missense_R348S exm1105030 14 59939727 [T/C] NM_144581 L3HYPDH EXON Missense_I341V exm1105033 14 59939804 [A/G] NM_144581 L3HYPDH EXON Missense_A315V exm1105035 14 59942585 [A/T] NM_144581 L3HYPDH Silent exm1105039 14 59942841 [A/G] NM_144581 L3HYPDH EXON Missense_T257I exm1105046 14 59945950 [T/A] NM_144581 L3HYPDH EXON Missense_R210W exm1105070 14 59950803 [T/C] NM_144581 L3HYPDH EXON Missense_A78T exm1105079 14 59950910 [A/G] NM_144581 L3HYPDH EXON Missense_V42A exm1105102 14 59954534 [T/C] NM_016475,NM_001098625 JKAMP,JKAMP EXON Missense_S80L,Missense_S74L exm1105124 14 59970780 [A/G] NM_016475,NM_001098625 JKAMP,JKAMP EXON Missense_N309S,Missense_N303S exm1105139 14 59988324 [T/C] NM_001164399 CCDC175 EXON Missense_S689N exm1105141 14 59988372 [T/C] NM_001164399 CCDC175 EXON Missense_N673S exm1105143 14 59993841 [G/C] NM_001164399 CCDC175 EXON Missense_R605T exm1105149 14 60004844 [T/C] NM_001164399 CCDC175 EXON Missense_G507E exm1105154 14 60011887 [T/C] NM_001164399 CCDC175 EXON Missense_H389R exm1105157 14 60027862 [G/C] NM_001164399 CCDC175 EXON Missense_D310H exm1105159 14 60027907 [T/C] NM_001164399 CCDC175 EXON Missense_E295K exm1105163 14 60031774 [G/C] NM_001164399 CCDC175 EXON Missense_L237F exm1105168 14 60034964 [T/C] NM_001164399 CCDC175 EXON Missense_G164R exm1105202 14 60072171 [A/G] NM_021136,NM_206852 RTN1,RTN1 EXON Missense_T676M,Missense_T108M exm1105211 14 60074126 [A/T] NM_021136,NM_206852 RTN1,RTN1 EXON Missense_Q617L,Missense_Q49L exm1105220 14 60193699 [T/C] NM_021136 RTN1 EXON Missense_K568R exm1815973 14 60193907 [A/G] NM_021136 RTN1 EXON Missense_R499W exm2251858 14 60194184 [T/C] NM_021136 RTN1 EXON Synonymous_A406A exm1105257 14 60194333 [T/C] NM_021136 RTN1 EXON Missense_I357V exm1105259 14 60194357 [A/C] NM_021136 RTN1 EXON Missense_G349C exm1105260 14 60194375 [G/C] NM_021136 RTN1 EXON Missense_A343P exm1105264 14 60212465 [A/C] NM_021136 RTN1 EXON Missense_D326Y exm1815980 14 60212544 [A/C] NM_021136 RTN1 EXON Missense_K299N exm1105270 14 60212626 [T/C] NM_021136 RTN1 EXON Missense_R272H exm1815982 14 60212633 [T/C] NM_021136 RTN1 EXON Missense_E270K exm1105271 14 60212651 [T/G] NM_021136 RTN1 EXON Missense_I264L exm1105275 14 60212701 [T/C] NM_021136 RTN1 EXON Missense_G247E exm1105280 14 60212876 [T/C] NM_021136 RTN1 EXON Missense_M189V exm1105281 14 60212912 [T/C] NM_021136 RTN1 EXON Missense_E177K exm1105285 14 60213005 [A/G] NM_021136 RTN1 EXON Missense_P146S exm1815988 14 60213139 [T/C] NM_021136 RTN1 EXON Missense_E101G exm2267665 14 60312064 [A/G] NM_021136 RTN1 Silent exm1105330 14 60581809 [A/C] NM_022495 PCNXL4 EXON Missense_L95F exm1105335 14 60581882 [A/C] NM_022495 PCNXL4 EXON Missense_K120Q exm1105337 14 60581906 [A/G] NM_022495 PCNXL4 EXON Missense_I128V exm1105340 14 60581979 [A/G] NM_022495 PCNXL4 EXON Missense_N152S exm1105343 14 60582053 [A/G] NM_022495 PCNXL4 EXON Missense_V177I exm1105345 14 60582075 [A/G] NM_022495 PCNXL4 EXON Missense_R184Q exm1105350 14 60582457 [A/G] NM_022495 PCNXL4 EXON Missense_A226T exm1816022 14 60582476 [G/C] NM_022495 PCNXL4 EXON Missense_S232T exm1105360 14 60582726 [A/G] NM_022495 PCNXL4 EXON Missense_S275N exm1105365 14 60585131 [A/G] NM_022495 PCNXL4 EXON Missense_K321E exm1105367 14 60585149 [A/G] NM_022495 PCNXL4 EXON Missense_T327A exm1105368 14 60585188 [T/C] NM_022495 PCNXL4 EXON Missense_P340S exm1105374 14 60585282 [A/G] NM_022495 PCNXL4 EXON Missense_R371Q exm1105381 14 60585392 [A/G] NM_022495 PCNXL4 EXON Missense_M408V exm1105384 14 60587934 [T/C] NM_022495 PCNXL4 EXON Missense_H421Y exm1105385 14 60587944 [T/G] NM_022495 PCNXL4 EXON Missense_G424V exm1105387 14 60587953 [A/G] NM_022495 PCNXL4 EXON Missense_Q427R exm1105391 14 60591075 [T/C] NM_022495 PCNXL4 EXON Missense_T495I exm1105394 14 60591145 [G/C] NM_022495 PCNXL4 EXON Missense_N518K exm1105395 14 60591164 [A/G] NM_022495 PCNXL4 EXON Missense_D525N exm1105396 14 60591199 [T/A] NM_022495 PCNXL4 EXON Missense_Q536H exm1105418 14 60591656 [A/G] NM_022495 PCNXL4 EXON Missense_S689G exm1105420 14 60591697 [C/G] NM_022495 PCNXL4 EXON Missense_D702E exm1105433 14 60591887 [A/G] NM_022495 PCNXL4 EXON Missense_G766S exm1105434 14 60591894 [T/G] NM_022495 PCNXL4 EXON Missense_V768G exm1105437 14 60591953 [A/G] NM_022495 PCNXL4 EXON Missense_A788T exm1105439 14 60592428 [T/C] NM_022495 PCNXL4 EXON Missense_L818F exm1105441 14 60592491 [A/G] NM_022495 PCNXL4 EXON Missense_I839V exm1105446 14 60600811 [A/G] NM_022495 PCNXL4 EXON Missense_D897N exm1105461 14 60616070 [T/C] NM_016029 DHRS7 Silent exm1105462 14 60616075 [T/C] NM_016029 DHRS7 EXON Missense_G323D exm1105474 14 60616886 [T/C] NM_016029 DHRS7 EXON Missense_R218Q exm2274693 14 60619742 [C/G] NM_016029 DHRS7 EXON Missense_G183A exm1105483 14 60619754 [T/C] NM_016029 DHRS7 EXON Missense_E179G exm1105487 14 60619810 [A/C] NM_016029 DHRS7 EXON Missense_E160D exm1105491 14 60619877 [T/C] NM_016029 DHRS7 EXON Missense_N138S exm1105496 14 60620711 [A/G] NM_016029 DHRS7 EXON Missense_A120V exm1105513 14 60632014 [A/G] NM_016029 DHRS7 EXON Missense_L5P exm2267712 14 60647891 [A/G] exm1105517 14 60712590 [G/C] NM_177952 PPM1A EXON Missense_V9L exm1105520 14 60712651 [A/G] NM_177952 PPM1A EXON Missense_R29K exm1105522 14 60712730 [A/G] NM_177952 PPM1A EXON Missense_M55I exm1105542 14 60752400 [T/C] NM_177952,NM_177951,NM_021003 PPM1A,PPM1A,PPM1A EXON Missense_S371L,Missense_S298L,Missense_S298L exm2251860 14 60789176 [T/C] exm2251861 14 60903572 [A/G] NM_174978 C14orf39 EXON Synonymous_T585T exm1105563 14 60903757 [A/G] NM_174978 C14orf39 EXON Missense_L524F exm1105572 14 60921836 [T/G] NM_174978 C14orf39 EXON Missense_E462D exm1105578 14 60923658 [T/G] NM_174978 C14orf39 EXON Missense_F445L exm1105579 14 60923684 [A/G] NM_174978 C14orf39 EXON Missense_P437S exm1105580 14 60923696 [G/C] NM_174978 C14orf39 EXON Missense_A433P exm1105581 14 60923714 [A/G] NM_174978 C14orf39 EXON Missense_F427L exm1105582 14 60923717 [T/C] NM_174978 C14orf39 EXON Missense_I426V exm1105583 14 60923734 [T/C] NM_174978 C14orf39 EXON Missense_R420Q exm1105587 14 60923783 [T/C] NM_174978 C14orf39 EXON Missense_V404I exm1105591 14 60925419 [T/C] NM_174978 C14orf39 EXON Missense_R386G exm1105608 14 60932731 [T/C] NM_174978 C14orf39 EXON Missense_N313S exm1105610 14 60932752 [A/G] NM_174978 C14orf39 EXON Missense_A306V exm1105612 14 60933647 [A/G] NM_174978 C14orf39 EXON Missense_P295S exm1105616 14 60936254 [G/C] NM_174978 C14orf39 EXON Missense_N224K exm1105617 14 60936278 [T/C] NM_174978 C14orf39 EXON Missense_M216I exm1105633 14 60950466 [T/C] NM_174978 C14orf39 EXON Missense_D59G exm1105636 14 60950509 [T/C] NM_174978 C14orf39 EXON Missense_K45E exm1105638 14 60951790 [T/C] NM_174978 C14orf39 EXON Missense_D3N exm1105650 14 60976501 [A/G] NM_007374 SIX6 EXON Missense_E129K exm1105655 14 60976537 [A/C] NM_007374 SIX6 EXON Missense_H141N exm1105664 14 60977843 [T/G] NM_007374 SIX6 EXON Missense_L205R exm1105673 14 60977966 [A/T] NM_007374 SIX6 EXON Missense_I246N exm-rs10483727 14 61072875 [T/C] exm1105686 14 61113278 [A/T] NM_005982 SIX1 EXON Missense_N193I exm1105718 14 61180193 [T/C] NM_017420 SIX4 EXON Missense_E760K exm1105719 14 61180312 [T/A] NM_017420 SIX4 EXON Missense_N720I exm1105720 14 61180321 [A/G] NM_017420 SIX4 EXON Missense_S717L exm1105721 14 61180336 [T/C] NM_017420 SIX4 EXON Missense_R712H exm1105722 14 61180370 [C/G] NM_017420 SIX4 EXON Missense_P701A exm1105726 14 61180450 [T/C] NM_017420 SIX4 EXON Missense_D674G exm1105731 14 61180508 [T/A] NM_017420 SIX4 EXON Missense_S655T exm1105735 14 61180565 [C/G] NM_017420 SIX4 EXON Missense_D636H exm1105738 14 61180657 [T/G] NM_017420 SIX4 EXON Missense_H605P exm1105740 14 61180673 [A/C] NM_017420 SIX4 EXON Missense_S600A exm1105742 14 61180693 [T/A] NM_017420 SIX4 EXON Missense_N593I exm1816190 14 61186502 [A/G] NM_017420 SIX4 EXON Missense_P509S exm1105756 14 61186733 [T/C] NM_017420 SIX4 EXON Missense_T432A exm1105816 14 61278718 [A/G] NM_002431,NM_001177963 MNAT1,MNAT1 EXON Missense_E145G,Missense_E145G exm1105829 14 61346487 [A/C] NM_002431,NM_001177963 MNAT1,MNAT1 EXON Missense_Y248S,Missense_Y206S exm1105831 14 61434969 [T/G] NM_002431,NM_001177963 MNAT1,MNAT1 EXON Missense_A278S,Missense_A236S exm1816243 14 61441876 [A/G] NM_020810 TRMT5 EXON Missense_T494M exm2251863 14 61441896 [T/C] NM_020810 TRMT5 EXON Synonymous_P487P exm1105838 14 61441896 [T/C] NM_020810 TRMT5 EXON Synonymous_P487P exm1105839 14 61441898 [A/G] NM_020810 TRMT5 EXON Missense_P487S exm1105845 14 61442354 [A/G] NM_020810 TRMT5 EXON Missense_A428V exm1105847 14 61442412 [T/G] NM_020810 TRMT5 EXON Missense_S409R exm1105848 14 61442445 [T/C] NM_020810 TRMT5 EXON Missense_A398T exm1105850 14 61442487 [T/C] NM_020810 TRMT5 EXON Missense_V384I exm1105853 14 61442538 [G/C] NM_020810 TRMT5 EXON Missense_E367Q exm2222591 14 61442756 [T/G] NM_020810 TRMT5 EXON Missense_E294A exm2272092 14 61443539 [T/C] NM_020810 TRMT5 Silent exm1105872 14 61445960 [T/C] NM_020810 TRMT5 EXON Missense_K219R exm1105873 14 61445967 [A/G] NM_020810 TRMT5 EXON Missense_S217P exm1105874 14 61445975 [T/C] NM_020810 TRMT5 EXON Missense_H214R exm1105875 14 61445981 [T/C] NM_020810 TRMT5 EXON Missense_R212Q exm1105878 14 61446081 [T/G] NM_020810 TRMT5 EXON Missense_H179N exm1105880 14 61446147 [A/T] NM_020810 TRMT5 EXON Missense_S157C exm1105883 14 61446224 [A/T] NM_020810 TRMT5 EXON Missense_E131V exm1105884 14 61446236 [A/G] NM_020810 TRMT5 EXON Missense_I127T exm1105895 14 61446482 [A/G] NM_020810 TRMT5 EXON Missense_A45V exm1105898 14 61446519 [T/C] NM_020810 TRMT5 EXON Missense_V33I exm1105899 14 61446546 [T/C] NM_020810 TRMT5 EXON Missense_I24V exm1816265 14 61482634 [A/T] NM_153811,NM_001172702,NR_033344 SLC38A6,SLC38A6,SLC38A6 EXON Missense_Y108F,Missense_Y108F,Silent exm2274694 14 61482663 [T/G] NM_153811,NM_001172702,NR_033344 SLC38A6,SLC38A6,SLC38A6 EXON Missense_L118V,Missense_L118V,Silent exm1816284 14 61510196 [A/C] NM_153811,NM_001172702,NR_033344 SLC38A6,SLC38A6,SLC38A6 EXON Missense_P240Q,Missense_P240Q,Silent exm1105965 14 61512071 [A/G] NM_153811,NM_001172702,NR_033344 SLC38A6,SLC38A6,SLC38A6 EXON Missense_Y251C,Missense_Y251C,Silent exm1105968 14 61512802 [T/C] NM_153811,NM_001172702,NR_033344 SLC38A6,SLC38A6,SLC38A6 EXON Missense_M281T,Missense_M281T,Silent exm1105974 14 61517256 [A/G] NM_153811,NM_001172702,NR_033344 SLC38A6,SLC38A6,SLC38A6 EXON Missense_G318S,Missense_G318S,Silent exm1105989 14 61519094 [T/G] NM_153811,NM_001172702,NR_033344 SLC38A6,SLC38A6,SLC38A6 EXON Missense_L440V,Silent,Silent exm1105997 14 61550315 [T/C] NM_001172702,NR_033344 SLC38A6,SLC38A6 EXON Missense_A484V,Silent exm2222595 14 61550397 [T/G] NM_001172702,NR_033344 SLC38A6,SLC38A6 EXON Missense_L511F,Silent exm2272093 14 61652860 [T/C] exm2267713 14 61745417 [A/G] NM_001017970 TMEM30B EXON Silent exm1816308 14 61746823 [A/T] NM_001017970 TMEM30B EXON Missense_D348V exm1106013 14 61747119 [C/G] NM_001017970 TMEM30B EXON Missense_D249E exm1106028 14 61747594 [A/G] NM_001017970 TMEM30B EXON Missense_P91L exm1816314 14 61788973 [A/G] NM_006255 PRKCH EXON Missense_V52M exm1106047 14 61789013 [A/G] NM_006255 PRKCH EXON Missense_K65R exm1106064 14 61857988 [A/T] NM_006255 PRKCH EXON Missense_T137S exm1106079 14 61923961 [A/G] NM_006255 PRKCH EXON Missense_G343E exm1106086 14 61924239 [A/G] NM_006255 PRKCH EXON Missense_V374I exm1106108 14 61997167 [A/G] NM_006255 PRKCH EXON Missense_A539T exm1106113 14 61997287 [A/G] NM_006255 PRKCH EXON Missense_E579K exm1106117 14 62014533 [T/C] NM_006255 PRKCH EXON Missense_P612S exm1106119 14 62014604 [T/C] NM_006255 PRKCH EXON Synonymous_I635I exm2267714 14 62021879 [A/G] exm-rs8005745 14 62185295 [T/A] NM_181054,NM_001530,NM_001243084 HIF1A,HIF1A,HIF1A Silent,Silent,Silent exm1106129 14 62187212 [C/G] NM_181054,NM_001530,NM_001243084 HIF1A,HIF1A,HIF1A EXON Missense_V50L,Missense_V50L,Missense_V74L exm1106134 14 62188298 [A/G] NM_181054,NM_001530,NM_001243084 HIF1A,HIF1A,HIF1A EXON Missense_V100I,Missense_V100I,Missense_V124I exm1106148 14 62194352 [A/G] NM_181054,NM_001530,NM_001243084 HIF1A,HIF1A,HIF1A EXON Missense_K251R,Missense_K251R,Missense_K275R exm1106159 14 62203623 [A/G] NM_181054,NM_001530,NM_001243084 HIF1A,HIF1A,HIF1A EXON Missense_D349N,Missense_D349N,Missense_D373N exm1106160 14 62203643 [A/T] NM_181054,NM_001530,NM_001243084 HIF1A,HIF1A,HIF1A EXON Missense_Q355H,Missense_Q355H,Missense_Q379H exm1106166 14 62204808 [T/C] NM_181054,NM_001530,NM_001243084 HIF1A,HIF1A,HIF1A EXON Missense_T418I,Missense_T418I,Missense_T442I exm1106167 14 62204819 [T/G] NM_181054,NM_001530,NM_001243084 HIF1A,HIF1A,HIF1A EXON Missense_D422Y,Missense_D422Y,Missense_D446Y exm1106172 14 62204978 [T/G] NM_181054,NM_001530,NM_001243084 HIF1A,HIF1A,HIF1A EXON Missense_A475S,Missense_A475S,Missense_A499S exm1106181 14 62207557 [T/C] NM_181054,NM_001530,NM_001243084 HIF1A,HIF1A,HIF1A EXON Missense_P582S,Missense_P582S,Missense_P606S exm1106182 14 62207575 [A/G] NM_181054,NM_001530,NM_001243084 HIF1A,HIF1A,HIF1A EXON Missense_A588T,Missense_A588T,Missense_A612T exm1106187 14 62207708 [T/C] NM_181054,NM_001530,NM_001243084 HIF1A,HIF1A,HIF1A EXON Missense_M632T,Missense_M632T,Missense_M656T exm1106194 14 62207848 [C/G] NM_181054,NM_001530,NM_001243084 HIF1A,HIF1A,HIF1A EXON Missense_Q679E,Missense_Q679E,Missense_Q703E exm1106196 14 62207879 [A/C] NM_181054,NM_001530,NM_001243084 HIF1A,HIF1A,HIF1A EXON Missense_N689T,Missense_N689T,Missense_N713T exm1106197 14 62207893 [A/G] NM_181054,NM_001530,NM_001243084 HIF1A,HIF1A,HIF1A EXON Missense_A694T,Missense_A694T,Missense_A718T exm1106222 14 62229285 [T/G] NM_003082 SNAPC1 EXON Missense_M36R exm1106226 14 62233635 [T/A] NM_003082 SNAPC1 EXON Missense_E57V exm1106227 14 62233654 [C/G] NM_003082 SNAPC1 EXON Missense_W63C exm1106228 14 62233692 [T/C] NM_003082 SNAPC1 EXON Missense_V76A exm1106234 14 62234039 [A/G] NM_003082 SNAPC1 EXON Missense_R133K exm1106239 14 62242879 [T/C] NM_003082 SNAPC1 EXON Missense_P201S exm1106246 14 62244854 [T/C] NM_003082 SNAPC1 EXON Missense_T253M exm1106258 14 62249083 [T/C] NM_003082 SNAPC1 EXON Missense_P315L exm2267666 14 62363763 [A/G] exm1106268 14 62462766 [T/C] NM_031914 SYT16 EXON Missense_V10A exm2276330 14 62462858 [A/C] NM_031914 SYT16 EXON Missense_N41H exm1106274 14 62462981 [A/C] NM_031914 SYT16 EXON Missense_N82H exm1106277 14 62463099 [T/C] NM_031914 SYT16 EXON Missense_S121F exm1106281 14 62463129 [T/G] NM_031914 SYT16 EXON Missense_R131L exm2251868 14 62463184 [A/G] NM_031914 SYT16 EXON Synonymous_K149K exm1106289 14 62536408 [A/G] NM_031914 SYT16 EXON Missense_R204Q exm1106294 14 62536470 [T/C] NM_031914 SYT16 EXON Missense_P225S exm1106297 14 62536516 [A/G] NM_031914 SYT16 EXON Missense_E240G exm1106302 14 62541940 [A/G] NM_031914 SYT16 EXON Missense_C275Y exm1106303 14 62541943 [A/G] NM_031914 SYT16 EXON Missense_E276G exm1816450 14 62541988 [G/C] NM_031914 SYT16 EXON Missense_S291T exm1106306 14 62542030 [T/G] NM_031914 SYT16 EXON Missense_L305W exm1106308 14 62542051 [A/G] NM_031914 SYT16 EXON Missense_N312S exm1106311 14 62547586 [A/G] NM_031914 SYT16 EXON Missense_G343E exm1106313 14 62547645 [A/G] NM_031914 SYT16 EXON Missense_A363T exm1106314 14 62547748 [A/G] NM_031914 SYT16 EXON Missense_G397D exm1106334 14 62551085 [A/G] NM_031914 SYT16 EXON Missense_A536T exm2222604 14 62567270 [A/G] NM_031914 SYT16 EXON Missense_V595I exm-rs973968 14 62654698 [A/G] exm-rs1514928 14 62678303 [A/C] exm2272094 14 62932555 [T/C] exm2260347 14 63098431 [A/G] exm1106345 14 63174272 [C/G] NM_172375,NM_139318 KCNH5,KCNH5 EXON Silent,Nonsense_S974X exm1106360 14 63174542 [A/G] NM_172375,NM_139318 KCNH5,KCNH5 EXON Silent,Missense_P884L exm1816477 14 63174561 [T/C] NM_172375,NM_139318 KCNH5,KCNH5 EXON Silent,Missense_A878T exm1106371 14 63174828 [A/C] NM_172375,NM_139318 KCNH5,KCNH5 EXON Silent,Missense_G789C exm1106375 14 63174878 [T/C] NM_172375,NM_139318 KCNH5,KCNH5 EXON Silent,Missense_E772G exm1106380 14 63174960 [T/C] NM_172375,NM_139318 KCNH5,KCNH5 EXON Silent,Missense_A745T exm1106386 14 63175105 [T/C] NM_172375,NM_139318 KCNH5,KCNH5 EXON Silent,Synonymous_V696V exm2251870 14 63175105 [T/C] NM_172375,NM_139318 KCNH5,KCNH5 EXON Silent,Synonymous_V696V exm1106396 14 63246495 [C/G] NM_172375,NM_139318,NM_172376 KCNH5,KCNH5,KCNH5 EXON Silent,Missense_A657G,Missense_A599G exm1106397 14 63246505 [T/C] NM_172375,NM_139318,NM_172376 KCNH5,KCNH5,KCNH5 EXON Silent,Missense_T654A,Missense_T596A exm1106405 14 63269203 [T/C] NM_172375,NM_139318,NM_172376 KCNH5,KCNH5,KCNH5 EXON Missense_D556N,Missense_D556N,Missense_D498N exm2272095 14 63372471 [T/C] NM_172375,NM_139318,NM_172376 KCNH5,KCNH5,KCNH5 Silent,Silent,Silent exm1106418 14 63416881 [T/C] NM_172375,NM_139318,NM_172376 KCNH5,KCNH5,KCNH5 EXON Missense_M447V,Missense_M447V,Missense_M389V exm1106425 14 63417122 [T/C] NM_172375,NM_139318,NM_172376 KCNH5,KCNH5,KCNH5 EXON Missense_I366M,Missense_I366M,Missense_I308M exm1106435 14 63447796 [A/C] NM_172375,NM_139318,NM_172376 KCNH5,KCNH5,KCNH5 EXON Missense_A246S,Missense_A246S,Missense_A188S exm1106450 14 63473084 [T/G] NM_172375,NM_139318,NM_172376 KCNH5,KCNH5,KCNH5 EXON Synonymous_R102R,Synonymous_R102R,Synonymous_R44R exm1106469 14 63671598 [A/G] NM_020663 RHOJ EXON Missense_K4R exm2222612 14 63671670 [T/G] NM_020663 RHOJ EXON Missense_G28V exm1106476 14 63671730 [A/G] NM_020663 RHOJ EXON Missense_E48G exm1106488 14 63747800 [C/G] NM_020663 RHOJ EXON Missense_P117A exm1106494 14 63749905 [T/C] NM_020663 RHOJ EXON Missense_Y157H exm1106495 14 63749908 [A/G] NM_020663 RHOJ EXON Missense_E158K exm1106508 14 63779790 [T/C] NM_145171 GPHB5 EXON Missense_E82K exm2272096 14 63780417 [T/C] NM_145171 GPHB5 Silent exm1106514 14 63784409 [C/G] NM_145171 GPHB5 EXON Missense_G52A exm1106516 14 63784452 [T/C] NM_145171 GPHB5 EXON Missense_V38M exm2272177 14 63855760 [T/C] NM_006246 PPP2R5E Silent exm-rs11158493 14 63953522 [T/C] NM_006246 PPP2R5E Silent exm1106566 14 64065556 [T/C] NM_080666,NM_001008726,NM_001258272 WDR89,WDR89,WDR89 EXON Missense_V369M,Missense_V369M,Missense_V369M exm1106569 14 64065699 [A/G] NM_080666,NM_001008726,NM_001258272 WDR89,WDR89,WDR89 EXON Missense_A321V,Missense_A321V,Missense_A321V exm1106571 14 64065726 [T/G] NM_080666,NM_001008726,NM_001258272 WDR89,WDR89,WDR89 EXON Missense_H312P,Missense_H312P,Missense_H312P exm1106582 14 64066015 [T/C] NM_080666,NM_001008726,NM_001258272 WDR89,WDR89,WDR89 EXON Missense_I216V,Missense_I216V,Missense_I216V exm2251873 14 64066379 [T/C] NM_080666,NM_001008726,NM_001258272 WDR89,WDR89,WDR89 EXON Synonymous_V94V,Synonymous_V94V,Synonymous_V94V exm1106597 14 64066507 [T/C] NM_080666,NM_001008726,NM_001258272 WDR89,WDR89,WDR89 EXON Missense_I52V,Missense_I52V,Missense_I52V exm1106606 14 64152851 [T/A] NM_030791 SGPP1 EXON Missense_Y433F exm1106612 14 64152962 [T/C] NM_030791 SGPP1 EXON Missense_N396S exm1106622 14 64153284 [T/C] NM_030791 SGPP1 EXON Missense_K289E exm1106624 14 64153301 [T/C] NM_030791 SGPP1 EXON Missense_N283S exm1106652 14 64194553 [C/G] NM_030791 SGPP1 EXON Missense_A37G exm-rs7157785 14 64235556 [T/G] exm2222617 14 64375888 [T/C] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_P8S,Missense_P8S exm1106669 14 64408645 [A/G] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_I94V,Missense_I94V exm1106671 14 64408806 [T/A] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_D118V,Missense_D118V exm1106675 14 64416564 [G/C] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_L144V,Missense_L144V exm1106680 14 64416655 [A/G] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_K174R,Missense_K174R exm1106694 14 64430693 [A/G] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_N322S,Missense_N322S exm1106707 14 64443395 [T/G] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_D415Y,Missense_D415Y exm1106709 14 64444625 [A/C] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_S432R,Missense_S432R exm1106711 14 64444685 [A/C] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_E452D,Missense_E452D exm1106715 14 64445610 [A/G] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_E483K,Missense_E483K exm1106720 14 64447776 [T/C] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_I574T,Missense_I574T exm1106721 14 64447779 [A/G] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_Y575C,Missense_Y575C exm1106725 14 64449363 [G/C] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_L618V,Missense_L618V exm1106726 14 64449384 [T/C] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_H625Y,Missense_H625Y exm1106732 14 64450476 [A/G] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_I675V,Missense_I675V exm1106733 14 64450479 [A/G] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_K676E,Missense_K676E exm1106737 14 64453282 [A/C] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_K754Q,Missense_K754Q exm1106738 14 64453292 [T/C] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_L757S,Missense_L757S exm1106747 14 64457747 [G/C] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_Q854E,Missense_Q854E exm1106757 14 64461883 [A/G] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_R968H,Missense_R968H exm1106762 14 64464101 [A/G] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_T1079A,Missense_T1079A exm1816645 14 64465019 [A/G] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_S1109N,Missense_S1109N exm1106771 14 64467305 [A/G] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_R1169H,Missense_R1169H exm1106776 14 64467358 [A/C] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_I1187L,Missense_I1187L exm1816649 14 64468654 [A/T] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_M1214K,Missense_M1214K exm1106786 14 64468726 [A/C] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_D1238A,Missense_D1238A exm1106789 14 64468780 [A/G] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_R1256H,Missense_R1256H exm1106800 14 64469828 [T/C] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_R1393W,Missense_R1393W exm1106801 14 64469829 [A/G] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_R1393Q,Missense_R1393Q exm1106804 14 64469937 [T/C] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_L1429P,Missense_L1429P exm1816665 14 64483247 [A/C] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_N1595K,Missense_N1595K exm1106819 14 64484335 [A/G] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_Y1637C,Missense_Y1637C exm1106820 14 64484337 [T/C] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_Y1638H,Missense_Y1638H exm1106822 14 64484419 [T/C] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_A1665V,Missense_A1665V exm1106823 14 64484470 [T/C] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_L1682P,Missense_L1682P exm1106826 14 64488037 [T/C] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_M1719T,Missense_M1719T exm1106828 14 64488068 [A/T] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_H1729Q,Missense_H1729Q exm1106839 14 64488725 [A/C] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_H1835N,Missense_H1835N exm1106841 14 64488739 [A/T] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_L1839F,Missense_L1839F exm1816671 14 64489478 [A/G] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_K1845R,Missense_K1845R exm1106842 14 64489519 [A/G] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_K1859E,Missense_K1859E exm1816678 14 64491682 [A/G] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_K1965E,Missense_K1965E exm1106849 14 64491695 [T/C] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_M1969T,Missense_M1969T exm1106854 14 64491943 [T/G] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_M2019R,Missense_M2019R exm1106855 14 64491958 [T/C] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_T2024I,Missense_T2024I exm1106868 14 64493414 [G/C] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_D2124H,Missense_D2124H exm1106874 14 64494308 [G/C] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_L2171V,Missense_L2171V exm2277069 14 64496634 [A/G] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_G2246S,Missense_G2246S exm1106893 14 64496749 [T/C] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_A2284V,Missense_A2284V exm1106898 14 64497800 [A/G] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_V2316I,Missense_V2316I exm1106901 14 64497894 [A/C] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_A2347E,Missense_A2347E exm1106902 14 64497929 [A/G] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_S2359G,Missense_S2359G exm1106903 14 64497930 [A/G] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_S2359N,Missense_S2359N exm1106904 14 64497950 [T/C] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_S2366P,Missense_S2366P exm1106905 14 64497978 [T/C] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_L2375P,Missense_L2375P exm1106908 14 64498016 [A/G] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_E2388K,Missense_E2388K exm1106909 14 64498017 [A/G] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_E2388G,Missense_E2388G exm1106910 14 64498037 [A/G] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_A2395T,Missense_A2395T exm1816704 14 64516418 [C/G] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_L2489F,Missense_L2489F exm1106917 14 64516420 [T/G] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_V2490G,Missense_V2490G exm1106919 14 64516434 [A/G] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_G2495R,Missense_G2495R exm1106923 14 64516524 [A/T] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_F2525I,Missense_F2525I exm1106924 14 64516557 [A/G] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_M2536V,Missense_M2536V exm1106926 14 64518295 [T/C] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_T2555M,Missense_T2555M exm1106928 14 64518321 [A/G] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_I2564V,Missense_I2564V exm1106929 14 64518325 [T/C] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_A2565V,Missense_A2565V exm1106939 14 64518503 [A/C] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_E2624D,Missense_E2624D exm1106941 14 64518529 [A/G] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_N2633S,Missense_N2633S exm1106942 14 64518607 [A/G] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_R2659Q,Missense_R2659Q exm1106943 14 64518634 [T/G] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_L2668W,Missense_L2668W exm1106946 14 64518672 [A/G] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_V2681I,Missense_V2681I exm1106952 14 64519017 [T/C] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_L2796F,Missense_L2796F exm1106954 14 64519035 [A/G] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_S2802G,Missense_S2802G exm1106962 14 64519198 [T/G] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_L2856R,Missense_L2856R exm1106963 14 64519228 [T/C] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_T2866M,Missense_T2866M exm1106966 14 64519392 [A/C] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_K2921Q,Missense_K2921Q exm1106968 14 64519455 [A/G] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_I2942V,Missense_I2942V exm1106977 14 64519542 [C/G] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_Q2971E,Missense_Q2971E exm1106984 14 64519654 [T/C] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_I3008T,Missense_I3008T exm1106987 14 64519709 [T/A] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_E3026D,Missense_E3026D exm1816716 14 64519771 [A/G] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_K3047R,Missense_K3047R exm1106992 14 64519861 [T/C] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_P3077L,Missense_P3077L exm1106994 14 64519872 [T/C] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_R3081W,Missense_R3081W exm1106999 14 64519946 [A/C] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_L3105F,Missense_L3105F exm1107000 14 64519978 [A/G] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_K3116R,Missense_K3116R exm1107002 14 64520020 [A/G] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_N3130S,Missense_N3130S exm1107009 14 64520133 [A/G] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_I3168V,Missense_I3168V exm1107014 14 64520262 [T/G] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_A3211S,Missense_A3211S exm1107023 14 64522843 [A/G] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_H3309R,Missense_H3309R exm1107028 14 64529597 [A/G] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_R3399H,Missense_R3399H exm1107030 14 64532155 [T/G] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_L3406F,Missense_L3406F exm1107031 14 64532206 [C/G] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_I3423M,Missense_I3423M exm1107032 14 64532250 [A/G] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_C3438Y,Missense_C3438Y exm1107045 14 64537441 [A/G] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_T3504A,Missense_T3504A exm1107051 14 64537562 [T/G] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_S3544I,Missense_S3544I exm1107053 14 64537619 [A/G] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_R3563Q,Missense_R3563Q exm1107058 14 64540823 [A/G] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_Q3612R,Missense_Q3612R exm1107071 14 64545208 [T/A] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_S3683T,Missense_S3683T exm1107079 14 64547323 [C/G] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_Q3771H,Missense_Q3771H exm1107085 14 64548293 [C/G] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_V3827L,Missense_V3827L exm1107089 14 64554434 [A/G] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_I3844V,Missense_I3844V exm1107112 14 64557734 [A/C] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_N3982H,Missense_N3982H exm1107115 14 64560092 [A/G] NM_182914,NM_015180 SYNE2,SYNE2 EXON Nonsense_W4001X,Nonsense_W4001X exm1107116 14 64560133 [T/C] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_Y4015H,Missense_Y4015H exm1107126 14 64564679 [T/C] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_R4041C,Missense_R4041C exm1107127 14 64564680 [A/G] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_R4041H,Missense_R4041H exm1107137 14 64564851 [A/C] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_A4098D,Missense_A4098D exm1107141 14 64565504 [A/G] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_E4116K,Missense_E4116K exm1107149 14 64565537 [A/G] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_D4127N,Missense_D4127N exm2267716 14 64571910 [A/G] NM_182914,NM_015180 SYNE2,SYNE2 Silent,Silent exm1107162 14 64574276 [A/T] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_N4187I,Missense_N4187I exm1107163 14 64574288 [A/G] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_G4191D,Missense_G4191D exm1107164 14 64574312 [A/G] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_N4199S,Missense_N4199S exm1107171 14 64580075 [T/C] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_I4209T,Missense_I4209T exm1107172 14 64580104 [A/G] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_A4219T,Missense_A4219T exm1107174 14 64580122 [T/C] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_P4225S,Missense_P4225S exm1107186 14 64586235 [A/G] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_E4311K,Missense_E4311K exm1107197 14 64587777 [C/G] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_Q4386E,Missense_Q4386E exm1107212 14 64591797 [A/G] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_V4475I,Missense_V4475I exm1107213 14 64591798 [T/C] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_V4475A,Missense_V4475A exm1107225 14 64593317 [T/C] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_T4570M,Missense_T4570M exm1107230 14 64593400 [A/G] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_E4598K,Missense_E4598K exm1107231 14 64593458 [T/C] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_T4617I,Missense_T4617I exm1107240 14 64596537 [A/G] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_E4686G,Missense_E4686G exm2251875 14 64596568 [A/G] NM_182914,NM_015180 SYNE2,SYNE2 EXON Synonymous_G4696G,Synonymous_G4696G exm1107251 14 64596823 [A/C] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_P4733T,Missense_P4733T exm1107261 14 64599121 [T/C] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_R4827C,Missense_R4827C exm1107264 14 64600800 [A/T] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_F4843Y,Missense_F4843Y exm1107276 14 64604538 [T/C] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_R4894W,Missense_R4894W exm1107277 14 64604539 [A/G] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_R4894Q,Missense_R4894Q exm1107278 14 64604578 [T/C] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_A4907V,Missense_A4907V exm1107279 14 64604592 [C/G] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_P4912A,Missense_P4912A exm1107280 14 64604595 [A/G] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_E4913K,Missense_E4913K exm1107285 14 64604650 [A/G] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_K4931R,Missense_K4931R exm1107297 14 64608113 [A/G] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_I5011V,Missense_I5011V exm1107302 14 64608718 [A/G] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_N5073S,Missense_N5073S exm1107306 14 64608748 [A/G] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_D5083G,Missense_D5083G exm1107308 14 64608756 [T/C] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_H5086Y,Missense_H5086Y exm1107312 14 64610596 [T/C] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_T5138M,Missense_T5138M exm1107316 14 64610628 [T/C] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_R5149C,Missense_R5149C exm1107317 14 64610629 [A/G] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_R5149H,Missense_R5149H exm1107328 14 64612858 [A/C] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_L5186M,Missense_L5186M exm1107332 14 64619331 [A/G] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_K5230R,Missense_K5230R exm1816843 14 64619361 [T/C] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_A5240V,Missense_A5240V exm1107336 14 64619423 [A/G] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_V5261I,Missense_V5261I exm1107337 14 64625344 [T/C] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_V5265A,Missense_V5265A exm1107339 14 64625398 [A/G] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_D5283G,Missense_D5283G exm1107340 14 64625407 [A/G] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_Y5286C,Missense_Y5286C exm1107341 14 64625415 [A/G] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_V5289M,Missense_V5289M exm1107352 14 64626154 [A/G] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_H5363R,Missense_H5363R exm1816852 14 64628851 [T/C] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_L5386F,Missense_L5386F exm1107357 14 64628873 [T/C] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_A5393V,Missense_A5393V exm1107360 14 64628890 [A/G] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_A5399T,Missense_A5399T exm1107366 14 64630132 [A/G] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_D5438N,Missense_D5438N exm1107377 14 64630240 [T/A] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_S5474T,Missense_S5474T exm1107380 14 64632045 [A/T] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_S5508T,Missense_S5508T exm1107382 14 64632114 [A/C] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_P5531T,Missense_P5531T exm1107383 14 64633964 [G/C] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_A5540G,Missense_A5540G exm1107385 14 64633984 [A/G] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_D5547N,Missense_D5547N exm1107389 14 64634063 [A/G] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_R5573Q,Missense_R5573Q exm1107403 14 64634308 [A/G] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_D5619G,Missense_D5619G exm1107409 14 64636978 [T/C] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_T5678M,Missense_T5678M exm1107411 14 64636983 [T/C] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_R5680W,Missense_R5680W exm1107418 14 64637103 [A/G] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_S5720G,Missense_S5720G exm-rs7161192 14 64637147 [A/C] NM_182914,NM_015180 SYNE2,SYNE2 EXON Synonymous_L5734L,Synonymous_L5734L exm1107435 14 64653146 [T/C] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_L5854P,Missense_L5854P exm1107438 14 64653277 [T/C] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_W5898R,Missense_W5898R exm1107457 14 64669670 [A/G] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_A6064T,Missense_A6064T exm1107458 14 64675506 [A/G] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_A6078T,Missense_A6078T exm1107470 14 64676162 [T/C] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_R6136C,Missense_R6136C exm1816908 14 64676760 [A/G] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_R6214K,Missense_R6214K exm1107491 14 64678790 [A/G] NM_182914,NM_015180 SYNE2,SYNE2 EXON Missense_A6279T,Missense_A6279T exm1107504 14 64680990 [T/C] NM_182914,NM_015180,NM_182913 SYNE2,SYNE2,SYNE2 EXON Missense_R6379C,Missense_R6379C,Missense_R13C exm1107505 14 64680991 [A/G] NM_182914,NM_015180,NM_182913 SYNE2,SYNE2,SYNE2 EXON Missense_R6379H,Missense_R6379H,Missense_R13H exm1107522 14 64681168 [T/C] NM_182914,NM_015180,NM_182913 SYNE2,SYNE2,SYNE2 EXON Missense_P6438L,Missense_P6438L,Missense_P72L exm1107526 14 64682978 [T/C] NM_182914,NM_015180,NM_182913,NM_182910 SYNE2,SYNE2,SYNE2,SYNE2 EXON Missense_S6472L,Missense_S6449L,Missense_S106L,Silent exm1107527 14 64682980 [G/C] NM_182914,NM_015180,NM_182913,NM_182910 SYNE2,SYNE2,SYNE2,SYNE2 EXON Missense_D6473H,Missense_D6450H,Missense_D107H,Silent exm1107533 14 64685154 [A/C] NM_182914,NM_015180,NM_182913,NM_182910 SYNE2,SYNE2,SYNE2,SYNE2 EXON Missense_K6527N,Missense_K6504N,Missense_K161N,Missense_K35N exm1107538 14 64685212 [A/G] NM_182914,NM_015180,NM_182913,NM_182910 SYNE2,SYNE2,SYNE2,SYNE2 EXON Missense_I6547V,Missense_I6524V,Missense_I181V,Missense_I55V exm1107553 14 64687258 [T/A] NM_182914,NM_015180,NM_182913,NM_182910 SYNE2,SYNE2,SYNE2,SYNE2 EXON Missense_Q6655L,Missense_Q6632L,Missense_Q289L,Missense_Q163L exm1107555 14 64687305 [A/G] NM_182914,NM_015180,NM_182913,NM_182910 SYNE2,SYNE2,SYNE2,SYNE2 EXON Missense_A6671T,Missense_A6648T,Missense_A305T,Missense_A179T exm1107556 14 64687327 [G/C] NM_182914,NM_015180,NM_182913,NM_182910 SYNE2,SYNE2,SYNE2,SYNE2 EXON Missense_G6678A,Missense_G6655A,Missense_G312A,Missense_G186A exm1107565 14 64688349 [A/G] NM_182914,NM_015180,NM_182913,NM_182910 SYNE2,SYNE2,SYNE2,SYNE2 EXON Missense_R6706Q,Missense_R6683Q,Missense_R354Q,Missense_R228Q exm1107568 14 64688390 [T/C] NM_182914,NM_015180,NM_182913,NM_182910 SYNE2,SYNE2,SYNE2,SYNE2 EXON Missense_R6720W,Missense_R6697W,Missense_R368W,Missense_R242W exm1107569 14 64688393 [A/G] NM_182914,NM_015180,NM_182913,NM_182910 SYNE2,SYNE2,SYNE2,SYNE2 EXON Missense_A6721T,Missense_A6698T,Missense_A369T,Missense_A243T exm1107572 14 64689913 [A/G] NM_182914,NM_015180,NM_182913,NM_182910 SYNE2,SYNE2,SYNE2,SYNE2 EXON Missense_E6733K,Missense_E6710K,Missense_E381K,Missense_E255K exm1107573 14 64689919 [A/G] NM_182914,NM_015180,NM_182913,NM_182910 SYNE2,SYNE2,SYNE2,SYNE2 EXON Missense_E6735K,Missense_E6712K,Missense_E383K,Missense_E257K exm1107576 14 64689956 [A/C] NM_182914,NM_015180,NM_182913,NM_182910 SYNE2,SYNE2,SYNE2,SYNE2 EXON Missense_Q6747P,Missense_Q6724P,Missense_Q395P,Missense_Q269P exm1107580 14 64690054 [T/C] NM_182914,NM_015180,NM_182913,NM_182910 SYNE2,SYNE2,SYNE2,SYNE2 EXON Missense_R6780W,Missense_R6757W,Missense_R428W,Missense_R302W exm1107581 14 64690055 [A/G] NM_182914,NM_015180,NM_182913,NM_182910 SYNE2,SYNE2,SYNE2,SYNE2 EXON Missense_R6780Q,Missense_R6757Q,Missense_R428Q,Missense_R302Q exm1107585 14 64691206 [A/G] NM_182914,NM_015180,NM_182913,NM_182910 SYNE2,SYNE2,SYNE2,SYNE2 EXON Missense_D6804N,Missense_D6781N,Missense_D452N,Missense_D326N exm1107589 14 64691258 [A/G] NM_182914,NM_015180,NM_182913,NM_182910 SYNE2,SYNE2,SYNE2,SYNE2 EXON Missense_R6821Q,Missense_R6798Q,Missense_R469Q,Missense_R343Q exm2222629 14 64691744 [A/G] NM_182914,NM_015180,NM_182913,NM_182910 SYNE2,SYNE2,SYNE2,SYNE2 EXON Missense_E6833K,Missense_E6811K,Missense_E482K,Missense_E355K exm1107592 14 64691756 [A/G] NM_182914,NM_015180,NM_182913,NM_182910 SYNE2,SYNE2,SYNE2,SYNE2 EXON Missense_E6837K,Missense_E6815K,Missense_E486K,Missense_E359K exm1107594 14 64692056 [T/C] NM_182914,NM_015180,NM_182913,NM_182910 SYNE2,SYNE2,SYNE2,SYNE2 EXON Missense_P6846S,Missense_P6824S,Missense_P495S,Missense_P368S exm1107598 14 64692110 [T/C] NM_182914,NM_015180,NM_182913,NM_182910 SYNE2,SYNE2,SYNE2,SYNE2 EXON Missense_L6864F,Missense_L6842F,Missense_L513F,Missense_L386F exm1107616 14 64699883 [T/C] NM_001214902,NR_073496,NR_073505,NM_001040275,NM_001271876,NM_001437,NM_001271877,NR_073497 ESR2,ESR2,ESR2,ESR2,ESR2,ESR2,ESR2,ESR2 EXON Silent,Silent,Silent,Silent,Silent,Missense_E522G,Missense_E431G,Silent exm1107633 14 64701797 [T/C] NM_001214902,NR_073496,NR_073505,NM_001040275,NM_001271876,NM_001437,NM_001271877,NR_073497,NM_001214903 ESR2,ESR2,ESR2,ESR2,ESR2,ESR2,ESR2,ESR2,ESR2 EXON Missense_V433M,Silent,Silent,Missense_V433M,Missense_V433M,Missense_V433M,Missense_V342M,Silent,Missense_V433M exm1816978 14 64701814 [A/G] NM_001214902,NR_073496,NR_073505,NM_001040275,NM_001271876,NM_001437,NM_001271877,NR_073497,NM_001214903 ESR2,ESR2,ESR2,ESR2,ESR2,ESR2,ESR2,ESR2,ESR2 EXON Missense_A427V,Silent,Silent,Missense_A427V,Missense_A427V,Missense_A427V,Missense_A336V,Silent,Missense_A427V exm1816979 14 64701857 [C/G] NM_001214902,NR_073496,NR_073505,NM_001040275,NM_001271876,NM_001437,NM_001271877,NR_073497,NM_001214903 ESR2,ESR2,ESR2,ESR2,ESR2,ESR2,ESR2,ESR2,ESR2 EXON Missense_L413V,Silent,Silent,Missense_L413V,Missense_L413V,Missense_L413V,Missense_L322V,Silent,Missense_L413V exm1107672 14 64727458 [T/C] NM_001214902,NR_073496,NR_073505,NM_001040275,NM_001271876,NM_001437,NM_001271877,NR_073497,NM_001214903 ESR2,ESR2,ESR2,ESR2,ESR2,ESR2,ESR2,ESR2,ESR2 EXON Missense_R221G,Silent,Silent,Missense_R221G,Missense_R221G,Missense_R221G,Missense_R221G,Silent,Missense_R221G exm1107691 14 64746839 [T/C] NM_001214902,NR_073496,NR_073505,NM_001040275,NM_001271876,NM_001437,NM_001271877,NR_073497,NM_001214903 ESR2,ESR2,ESR2,ESR2,ESR2,ESR2,ESR2,ESR2,ESR2 EXON Missense_R132H,Silent,Silent,Missense_R132H,Missense_R132H,Missense_R132H,Missense_R132H,Silent,Missense_R132H exm1817013 14 64749340 [A/G] NM_001214902,NR_073496,NR_073505,NM_001040275,NM_001271876,NM_001437,NM_001271877,NR_073497,NM_001214903 ESR2,ESR2,ESR2,ESR2,ESR2,ESR2,ESR2,ESR2,ESR2 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm1107699 14 64749426 [T/C] NM_001214902,NR_073496,NR_073505,NM_001040275,NM_001271876,NM_001437,NM_001271877,NR_073497,NM_001214903 ESR2,ESR2,ESR2,ESR2,ESR2,ESR2,ESR2,ESR2,ESR2 EXON Missense_R93H,Silent,Silent,Missense_R93H,Missense_R93H,Missense_R93H,Missense_R93H,Silent,Missense_R93H exm1107703 14 64749522 [T/C] NM_001214902,NR_073496,NR_073505,NM_001040275,NM_001271876,NM_001437,NM_001271877,NR_073497,NM_001214903 ESR2,ESR2,ESR2,ESR2,ESR2,ESR2,ESR2,ESR2,ESR2 EXON Missense_N61S,Silent,Silent,Missense_N61S,Missense_N61S,Missense_N61S,Missense_N61S,Silent,Missense_N61S exm1107708 14 64749595 [T/C] NM_001214902,NR_073496,NR_073505,NM_001040275,NM_001271876,NM_001437,NM_001271877,NR_073497,NM_001214903 ESR2,ESR2,ESR2,ESR2,ESR2,ESR2,ESR2,ESR2,ESR2 EXON Missense_V37I,Silent,Silent,Missense_V37I,Missense_V37I,Missense_V37I,Missense_V37I,Silent,Missense_V37I exm1107711 14 64749640 [T/C] NM_001214902,NR_073496,NR_073505,NM_001040275,NM_001271876,NM_001437,NM_001271877,NR_073497,NM_001214903 ESR2,ESR2,ESR2,ESR2,ESR2,ESR2,ESR2,ESR2,ESR2 EXON Missense_I22V,Silent,Silent,Missense_I22V,Missense_I22V,Missense_I22V,Missense_I22V,Silent,Missense_I22V exm1107714 14 64749697 [T/C] NM_001214902,NR_073496,NR_073505,NM_001040275,NM_001271876,NM_001437,NM_001271877,NR_073497,NM_001214903 ESR2,ESR2,ESR2,ESR2,ESR2,ESR2,ESR2,ESR2,ESR2 EXON Missense_I3V,Silent,Silent,Missense_I3V,Missense_I3V,Missense_I3V,Missense_I3V,Silent,Missense_I3V exm1107721 14 64867522 [T/C] NM_005956 MTHFD1 EXON Missense_A18V exm1107732 14 64882380 [A/G] NM_005956 MTHFD1 EXON Missense_K134R exm1107734 14 64884644 [T/C] NM_005956 MTHFD1 EXON Missense_R173C exm1107746 14 64892470 [A/G] NM_005956 MTHFD1 EXON Missense_R293H exm1107750 14 64892766 [T/C] NM_005956 MTHFD1 EXON Missense_P328L exm1107755 14 64892879 [T/C] NM_005956 MTHFD1 EXON Missense_R366W exm1107760 14 64894132 [A/C] NM_005956 MTHFD1 EXON Missense_Y402S exm1107763 14 64896903 [A/T] NM_005956 MTHFD1 EXON Synonymous_G422G exm1107768 14 64898328 [A/G] NM_005956 MTHFD1 EXON Missense_I464V exm-rs10498514 14 64899055 [A/C] NM_005956 MTHFD1 Silent exm-rs2295639 14 64902116 [T/C] NM_005956 MTHFD1 Silent exm1107794 14 64908845 [A/G] NM_005956 MTHFD1 EXON Missense_R653Q exm1107809 14 64916165 [T/C] NM_005956 MTHFD1 EXON Missense_T761M exm1107810 14 64916188 [T/C] NM_005956 MTHFD1 EXON Missense_L769F exm1107812 14 64916198 [A/G] NM_005956 MTHFD1 EXON Missense_R772H exm1107816 14 64916291 [A/G] NM_005956 MTHFD1 EXON Missense_Q803R exm1107830 14 64935148 [C/G] NM_004857 AKAP5 EXON Missense_N12K exm1107831 14 64935160 [C/G] NM_004857 AKAP5 EXON Missense_K16N exm1107832 14 64935279 [T/C] NM_004857 AKAP5 EXON Missense_A56V exm1107835 14 64935362 [T/C] NM_004857 AKAP5 EXON Missense_R84C exm1107838 14 64935411 [T/C] NM_004857 AKAP5 EXON Missense_P100L exm1107846 14 64935675 [A/G] NM_004857 AKAP5 EXON Missense_R188Q exm1107847 14 64935720 [T/C] NM_004857 AKAP5 EXON Missense_T203I exm1107855 14 64935983 [A/G] NM_004857 AKAP5 EXON Missense_G291R exm1107857 14 64936052 [A/G] NM_004857 AKAP5 EXON Missense_E314K exm1107858 14 64936106 [A/T] NM_004857 AKAP5 EXON Missense_S332C exm1107874 14 64953726 [T/C] NM_006977 ZBTB25 EXON Missense_R408H exm2222635 14 64953870 [T/C] NM_006977 ZBTB25 EXON Missense_R360Q exm1107898 14 64954410 [A/G] NM_006977 ZBTB25 EXON Missense_T180I exm1107899 14 64954420 [T/C] NM_006977 ZBTB25 EXON Missense_D177N exm2276331 14 64954429 [T/C] NM_006977 ZBTB25 EXON Missense_I174V exm1107909 14 64954636 [T/C] NM_006977 ZBTB25 EXON Missense_D105N exm1107911 14 64954683 [A/G] NM_006977 ZBTB25 EXON Missense_I89T exm1107919 14 64957164 [T/C] NM_006977 ZBTB25 EXON Missense_I30V exm1107920 14 64957224 [A/G] NM_006977 ZBTB25 EXON Missense_L10F exm2274697 14 64988814 [A/G] NM_001123329,NM_014950 ZBTB1,ZBTB1 EXON Missense_V198M,Missense_V198M exm2251877 14 64988924 [T/C] NM_001123329,NM_014950 ZBTB1,ZBTB1 EXON Synonymous_H234H,Synonymous_H234H exm1107938 14 64989027 [A/G] NM_001123329,NM_014950 ZBTB1,ZBTB1 EXON Missense_G269S,Missense_G269S exm1107957 14 64989728 [T/G] NM_001123329,NM_014950 ZBTB1,ZBTB1 EXON Missense_D502E,Missense_D502E exm1107959 14 64989813 [C/G] NM_001123329,NM_014950 ZBTB1,ZBTB1 EXON Missense_A531P,Missense_A531P exm1107961 14 64989847 [A/G] NM_001123329,NM_014950 ZBTB1,ZBTB1 EXON Missense_R542H,Missense_R542H exm1107971 14 65007751 [A/G] NM_021979 HSPA2 EXON Missense_M62V exm1107974 14 65007898 [G/C] NM_021979 HSPA2 EXON Missense_E111Q exm1107977 14 65007937 [A/G] NM_021979 HSPA2 EXON Missense_V124I exm2222636 14 65008151 [A/C] NM_021979 HSPA2 EXON Missense_E195A exm2251878 14 65009067 [A/G] NM_021979 HSPA2 EXON Synonymous_K500K exm1108012 14 65009135 [A/G] NM_021979 HSPA2 EXON Missense_Q523R exm1108018 14 65009287 [G/C] NM_021979 HSPA2 EXON Missense_L574V exm1108024 14 65016720 [A/G] NM_172365 PPP1R36 EXON Missense_Y2C exm1108028 14 65017661 [A/T] NM_172365 PPP1R36 EXON Missense_M31K exm1108032 14 65019539 [A/G] NM_172365 PPP1R36 EXON Missense_A48T exm1108033 14 65019554 [T/C] NM_172365 PPP1R36 EXON Nonsense_Q53X exm1108034 14 65031509 [T/G] NM_172365 PPP1R36 EXON Missense_G75C exm1108036 14 65031534 [T/C] NM_172365 PPP1R36 EXON Missense_T83I exm1108037 14 65031536 [G/C] NM_172365 PPP1R36 EXON Missense_D84H exm1108040 14 65032118 [A/G] NM_172365 PPP1R36 EXON Missense_K105E exm1108041 14 65032130 [A/G] NM_172365 PPP1R36 EXON Missense_K109E exm1108042 14 65032134 [A/G] NM_172365 PPP1R36 EXON Missense_R110Q exm1817197 14 65035067 [T/G] NM_172365 PPP1R36 EXON Missense_R145S exm1108050 14 65035161 [A/G] NM_172365 PPP1R36 EXON Missense_M177V exm1108052 14 65035167 [T/C] NM_172365 PPP1R36 Silent exm1108055 14 65041217 [T/C] NM_172365 PPP1R36 EXON Missense_L193S exm1108058 14 65041262 [T/C] NM_172365 PPP1R36 EXON Missense_V208A exm2274698 14 65053997 [T/G] NM_172365 PPP1R36 EXON Missense_L266R exm1108068 14 65053999 [T/C] NM_172365 PPP1R36 EXON Missense_F267L exm1108069 14 65054026 [T/C] NM_172365 PPP1R36 EXON Missense_R276C exm2274699 14 65055010 [T/C] NM_172365 PPP1R36 EXON Missense_P360L exm1108086 14 65055883 [A/G] NM_172365 PPP1R36 EXON Missense_G366R exm1108088 14 65055892 [T/C] NM_172365 PPP1R36 EXON Nonsense_R369X exm1108093 14 65055953 [T/C] NM_172365 PPP1R36 EXON Missense_F389S exm1108095 14 65056007 [T/C] NM_172365 PPP1R36 EXON Missense_L407P exm1108101 14 65194379 [A/T] NM_015549 PLEKHG3 EXON Missense_D10E exm1108105 14 65194426 [T/C] NM_015549 PLEKHG3 EXON Missense_S26L exm1108118 14 65194591 [A/G] NM_015549 PLEKHG3 EXON Missense_R81Q exm1108135 14 65197534 [T/C] NM_015549 PLEKHG3 EXON Missense_T139M exm1108141 14 65197579 [A/G] NM_015549 PLEKHG3 EXON Missense_R154Q exm1108146 14 65197810 [T/G] NM_015549 PLEKHG3 EXON Missense_A202S exm1108152 14 65198157 [T/C] NM_015549 PLEKHG3 EXON Missense_R254C exm1108153 14 65198160 [A/G] NM_015549 PLEKHG3 EXON Missense_V255M exm1108166 14 65198849 [T/C] NM_015549 PLEKHG3 EXON Missense_H332Y exm1108174 14 65199598 [T/C] NM_015549 PLEKHG3 EXON Missense_R386C exm1108177 14 65199611 [A/G] NM_015549 PLEKHG3 EXON Missense_R390Q exm1108183 14 65205465 [C/G] NM_015549 PLEKHG3 EXON Missense_K414N exm1108185 14 65205490 [A/G] NM_015549 PLEKHG3 EXON Missense_R423G exm1108187 14 65205500 [G/C] NM_015549 PLEKHG3 EXON Missense_R426T exm1108202 14 65207913 [A/G] NM_015549 PLEKHG3 EXON Missense_M504V exm1108208 14 65208045 [A/G] NM_015549 PLEKHG3 EXON Missense_V548I exm1108212 14 65208081 [T/C] NM_015549 PLEKHG3 EXON Missense_R560W exm1108213 14 65208082 [A/G] NM_015549 PLEKHG3 EXON Missense_R560Q exm1108215 14 65208118 [A/G] NM_015549 PLEKHG3 EXON Missense_G572D exm1108216 14 65208123 [A/G] NM_015549 PLEKHG3 EXON Missense_G574R exm1108218 14 65208133 [A/G] NM_015549 PLEKHG3 EXON Missense_R577Q exm1108221 14 65208177 [A/G] NM_015549 PLEKHG3 EXON Missense_E592K exm1108233 14 65208387 [A/G] NM_015549 PLEKHG3 EXON Missense_D662N exm1108235 14 65208444 [T/C] NM_015549 PLEKHG3 EXON Missense_R681C exm1108239 14 65208468 [A/G] NM_015549 PLEKHG3 EXON Missense_I689V exm1108247 14 65208697 [T/C] NM_015549 PLEKHG3 EXON Missense_M765T exm1108249 14 65208759 [G/C] NM_015549 PLEKHG3 EXON Missense_L786V exm1108252 14 65208865 [T/C] NM_015549 PLEKHG3 EXON Missense_P821L exm1108257 14 65208951 [T/C] NM_015549 PLEKHG3 EXON Missense_R850C exm1108259 14 65208963 [A/C] NM_015549 PLEKHG3 EXON Missense_L854I exm1108283 14 65209802 [A/G] NM_015549 PLEKHG3 EXON Missense_R958H exm1108285 14 65209817 [T/C] NM_015549 PLEKHG3 EXON Missense_P963L exm1108295 14 65209909 [A/G] NM_015549 PLEKHG3 EXON Missense_V994I exm1108301 14 65209987 [A/G] NM_015549 PLEKHG3 EXON Missense_V1020I exm1108310 14 65210132 [T/C] NM_015549 PLEKHG3 EXON Missense_P1068L exm1108316 14 65210261 [T/C] NM_015549 PLEKHG3 EXON Missense_P1111L exm1108317 14 65210267 [T/C] NM_015549 PLEKHG3 EXON Missense_S1113L exm1108318 14 65210269 [T/C] NM_015549 PLEKHG3 EXON Missense_P1114S exm1108325 14 65210406 [T/G] NM_015549 PLEKHG3 EXON Missense_L1159F exm1817281 14 65216718 [T/G] NM_001024858 SPTB EXON Missense_K2253Q exm1108338 14 65216741 [A/G] NM_001024858 SPTB EXON Missense_I2245T exm1817282 14 65216760 [T/C] NM_001024858 SPTB EXON Missense_R2239G exm1108351 14 65220339 [C/G] NM_001024858 SPTB EXON Missense_R2173P exm1108353 14 65220342 [A/G] NM_001024858 SPTB EXON Missense_P2172L exm1108355 14 65220354 [A/G] NM_001024858 SPTB EXON Missense_T2168M exm1108356 14 65220361 [G/C] NM_001024858 SPTB EXON Missense_P2166A exm2276332 14 65220374 [A/G] NM_001024858 SPTB EXON Synonymous_S2161S exm1108362 14 65220465 [A/G] NM_001024858 SPTB EXON Missense_P2131L exm1108370 14 65233425 [A/T] NM_001024858,NM_000347 SPTB,SPTB EXON Silent,Missense_L2122M exm1108379 14 65234055 [A/G] NM_001024858,NM_000347 SPTB,SPTB EXON Missense_R2079C,Missense_R2079C exm1108391 14 65235772 [T/C] NM_001024858,NM_000347 SPTB,SPTB EXON Missense_R2001H,Missense_R2001H exm1108393 14 65235830 [T/C] NM_001024858,NM_000347 SPTB,SPTB EXON Missense_E1982K,Missense_E1982K exm1108394 14 65235832 [T/C] NM_001024858,NM_000347 SPTB,SPTB EXON Missense_R1981H,Missense_R1981H exm1108398 14 65236330 [T/C] NM_001024858,NM_000347 SPTB,SPTB EXON Missense_R1972Q,Missense_R1972Q exm1108399 14 65236346 [T/C] NM_001024858,NM_000347 SPTB,SPTB EXON Missense_E1967K,Missense_E1967K exm1108400 14 65236390 [A/G] NM_001024858,NM_000347 SPTB,SPTB EXON Missense_I1952T,Missense_I1952T exm1108406 14 65237651 [A/G] NM_001024858,NM_000347 SPTB,SPTB EXON Missense_S1917F,Missense_S1917F exm1108413 14 65237712 [T/C] NM_001024858,NM_000347 SPTB,SPTB EXON Missense_T1897A,Missense_T1897A exm1108416 14 65237721 [T/C] NM_001024858,NM_000347 SPTB,SPTB EXON Missense_G1894R,Missense_G1894R exm1108430 14 65239381 [T/C] NM_001024858,NM_000347 SPTB,SPTB EXON Missense_V1824M,Missense_V1824M exm1108451 14 65239642 [A/G] NM_001024858,NM_000347 SPTB,SPTB EXON Missense_R1737W,Missense_R1737W exm1108462 14 65240065 [T/C] NM_001024858,NM_000347 SPTB,SPTB EXON Missense_R1684H,Missense_R1684H exm1108498 14 65242090 [A/G] NM_001024858,NM_000347 SPTB,SPTB EXON Missense_P1532L,Missense_P1532L exm1108499 14 65242093 [A/G] NM_001024858,NM_000347 SPTB,SPTB EXON Missense_T1531M,Missense_T1531M exm1108508 14 65245888 [A/C] NM_001024858,NM_000347 SPTB,SPTB EXON Missense_M1517R,Missense_M1517R exm2251880 14 65245962 [A/G] NM_001024858,NM_000347 SPTB,SPTB EXON Synonymous_L1492L,Synonymous_L1492L exm1108511 14 65245962 [A/G] NM_001024858,NM_000347 SPTB,SPTB EXON Synonymous_L1492L,Synonymous_L1492L exm1108518 14 65246540 [T/C] NM_001024858,NM_000347 SPTB,SPTB EXON Missense_R1459Q,Missense_R1459Q exm1108530 14 65249054 [A/G] NM_001024858,NM_000347 SPTB,SPTB EXON Missense_P1407L,Missense_P1407L exm1108531 14 65249066 [T/C] NM_001024858,NM_000347 SPTB,SPTB EXON Missense_R1403Q,Missense_R1403Q exm1108535 14 65249153 [T/C] NM_001024858,NM_000347 SPTB,SPTB EXON Missense_H1374R,Missense_H1374R exm1108538 14 65249199 [A/G] NM_001024858,NM_000347 SPTB,SPTB EXON Missense_R1359W,Missense_R1359W exm1108545 14 65250966 [A/G] NM_001024858,NM_000347 SPTB,SPTB EXON Missense_A1334V,Missense_A1334V exm1108559 14 65252552 [A/G] NM_001024858,NM_000347 SPTB,SPTB EXON Missense_P1227S,Missense_P1227S exm1108563 14 65252663 [T/C] NM_001024858,NM_000347 SPTB,SPTB EXON Missense_T1190A,Missense_T1190A exm1108566 14 65253145 [T/C] NM_001024858,NM_000347 SPTB,SPTB EXON Missense_A1180T,Missense_A1180T exm1108570 14 65253204 [T/C] NM_001024858,NM_000347 SPTB,SPTB EXON Missense_R1160H,Missense_R1160H exm1108572 14 65253252 [T/C] NM_001024858,NM_000347 SPTB,SPTB EXON Missense_E1144G,Missense_E1144G exm1108578 14 65253349 [T/C] NM_001024858,NM_000347 SPTB,SPTB EXON Missense_G1112R,Missense_G1112R exm1108587 14 65253450 [A/G] NM_001024858,NM_000347 SPTB,SPTB EXON Missense_S1078F,Missense_S1078F exm1108588 14 65253455 [A/C] NM_001024858,NM_000347 SPTB,SPTB EXON Missense_W1076C,Missense_W1076C exm1817363 14 65253580 [A/G] NM_001024858,NM_000347 SPTB,SPTB EXON Missense_R1035W,Missense_R1035W exm1108600 14 65253667 [T/C] NM_001024858,NM_000347 SPTB,SPTB EXON Missense_A1006T,Missense_A1006T exm1108612 14 65253802 [T/C] NM_001024858,NM_000347 SPTB,SPTB EXON Missense_V961I,Missense_V961I exm1108621 14 65258503 [T/C] NM_001024858,NM_000347 SPTB,SPTB EXON Missense_S913N,Missense_S913N exm1108629 14 65259725 [A/C] NM_001024858,NM_000347 SPTB,SPTB EXON Missense_V886L,Missense_V886L exm1108638 14 65259862 [T/C] NM_001024858,NM_000347 SPTB,SPTB EXON Missense_R840H,Missense_R840H exm1108639 14 65259871 [A/G] NM_001024858,NM_000347 SPTB,SPTB EXON Missense_A837V,Missense_A837V exm1108642 14 65259902 [A/G] NM_001024858,NM_000347 SPTB,SPTB EXON Missense_R827W,Missense_R827W exm2222649 14 65259917 [A/G] NM_001024858,NM_000347 SPTB,SPTB EXON Missense_R822W,Missense_R822W exm1108646 14 65259946 [T/G] NM_001024858,NM_000347 SPTB,SPTB EXON Missense_E812A,Missense_E812A exm1108647 14 65259950 [T/C] NM_001024858,NM_000347 SPTB,SPTB EXON Missense_E811K,Missense_E811K exm1108654 14 65260078 [T/C] NM_001024858,NM_000347 SPTB,SPTB EXON Missense_G768D,Missense_G768D exm1108665 14 65260216 [A/G] NM_001024858,NM_000347 SPTB,SPTB EXON Missense_S722L,Missense_S722L exm1817378 14 65260264 [T/C] NM_001024858,NM_000347 SPTB,SPTB EXON Missense_R706H,Missense_R706H exm1108668 14 65260265 [A/G] NM_001024858,NM_000347 SPTB,SPTB EXON Missense_R706C,Missense_R706C exm1108670 14 65260267 [A/G] NM_001024858,NM_000347 SPTB,SPTB EXON Missense_A705V,Missense_A705V exm1108671 14 65260321 [T/C] NM_001024858,NM_000347 SPTB,SPTB EXON Missense_R687H,Missense_R687H exm1108672 14 65260351 [T/C] NM_001024858,NM_000347 SPTB,SPTB EXON Missense_R677H,Missense_R677H exm1108680 14 65260543 [A/C] NM_001024858,NM_000347 SPTB,SPTB EXON Missense_S613I,Missense_S613I exm1108684 14 65261215 [T/C] NM_001024858,NM_000347 SPTB,SPTB EXON Missense_A589T,Missense_A589T exm1108693 14 65262093 [T/C] NM_001024858,NM_000347 SPTB,SPTB EXON Missense_D536N,Missense_D536N exm1108696 14 65262122 [A/G] NM_001024858,NM_000347 SPTB,SPTB EXON Missense_T526I,Missense_T526I exm1108704 14 65262206 [T/C] NM_001024858,NM_000347 SPTB,SPTB EXON Missense_R498H,Missense_R498H exm1108712 14 65263300 [T/C] NM_001024858,NM_000347 SPTB,SPTB EXON Missense_S439N,Missense_S439N exm1108713 14 65263313 [G/C] NM_001024858,NM_000347 SPTB,SPTB EXON Missense_E435Q,Missense_E435Q exm1108719 14 65263355 [G/C] NM_001024858,NM_000347 SPTB,SPTB EXON Missense_E421Q,Missense_E421Q exm1108725 14 65266481 [T/C] NM_001024858,NM_000347 SPTB,SPTB EXON Missense_V350M,Missense_V350M exm1817394 14 65266525 [A/G] NM_001024858,NM_000347 SPTB,SPTB EXON Missense_T335M,Missense_T335M exm1108732 14 65266547 [A/G] NM_001024858,NM_000347 SPTB,SPTB EXON Missense_R328C,Missense_R328C exm1108733 14 65266565 [T/C] NM_001024858,NM_000347 SPTB,SPTB EXON Missense_I322V,Missense_I322V exm1108736 14 65266596 [T/G] NM_001024858,NM_000347 SPTB,SPTB EXON Synonymous_A311A,Synonymous_A311A exm2251882 14 65266596 [T/G] NM_001024858,NM_000347 SPTB,SPTB EXON Synonymous_A311A,Synonymous_A311A exm1108737 14 65266604 [T/C] NM_001024858,NM_000347 SPTB,SPTB EXON Missense_G309R,Missense_G309R exm1108740 14 65267479 [T/C] NM_001024858,NM_000347 SPTB,SPTB EXON Missense_G291S,Missense_G291S exm1108744 14 65267577 [A/G] NM_001024858,NM_000347 SPTB,SPTB EXON Missense_T258M,Missense_T258M exm1108754 14 65268114 [T/C] NM_001024858,NM_000347 SPTB,SPTB EXON Missense_D218N,Missense_D218N exm1108759 14 65268509 [T/C] NM_001024858,NM_000347 SPTB,SPTB EXON Missense_D204N,Missense_D204N exm1108763 14 65268992 [T/C] NM_001024858,NM_000347 SPTB,SPTB EXON Missense_R173H,Missense_R173H exm1108791 14 65289748 [T/C] NM_001024858,NM_000347 SPTB,SPTB EXON Missense_R22H,Missense_R22H exm1108793 14 65289773 [A/G] NM_001024858,NM_000347 SPTB,SPTB EXON Missense_P14S,Missense_P14S exm1108794 14 65289787 [T/G] NM_001024858,NM_000347 SPTB,SPTB EXON Missense_N9T,Missense_N9T exm1108803 14 65390729 [A/T] NM_001204063,NM_001204064,NM_001202558,NM_001202559,NM_145165 CHURC1,CHURC1,CHURC1-FNTB,CHURC1-FNTB,CHURC1 EXON Missense_N47K,Missense_N47K,Silent,Missense_N47K,Missense_N47K exm1108807 14 65390839 [A/G] NM_001204063,NM_001204064,NM_001202558,NM_001202559,NM_145165 CHURC1,CHURC1,CHURC1-FNTB,CHURC1-FNTB,CHURC1 EXON Missense_Y84C,Missense_Y84C,Missense_M1V,Missense_Y84C,Missense_Y84C exm1817430 14 65406238 [T/C] NM_001202558,NM_001202559,NR_046320,NM_002083,NR_046321 CHURC1-FNTB,CHURC1-FNTB,GPX2,GPX2,GPX2 EXON Silent,Silent,Silent,Missense_D181N,Silent exm1108816 14 65406279 [T/C] NM_001202558,NM_001202559,NR_046320,NM_002083,NR_046321 CHURC1-FNTB,CHURC1-FNTB,GPX2,GPX2,GPX2 EXON Silent,Silent,Silent,Missense_R167Q,Silent exm1108817 14 65406280 [A/G] NM_001202558,NM_001202559,NR_046320,NM_002083,NR_046321 CHURC1-FNTB,CHURC1-FNTB,GPX2,GPX2,GPX2 EXON Silent,Silent,Silent,Nonsense_R167X,Silent exm1817435 14 65406398 [A/C] NM_001202558,NM_001202559,NR_046320,NM_002083,NR_046321 CHURC1-FNTB,CHURC1-FNTB,GPX2,GPX2,GPX2 EXON Silent,Silent,Silent,Nonsense_Y127X,Silent exm1108825 14 65406402 [A/G] NM_001202558,NM_001202559,NR_046320,NM_002083,NR_046321 CHURC1-FNTB,CHURC1-FNTB,GPX2,GPX2,GPX2 EXON Silent,Silent,Silent,Missense_P126L,Silent exm1108827 14 65406445 [T/C] NM_001202558,NM_001202559,NR_046320,NM_002083,NR_046321 CHURC1-FNTB,CHURC1-FNTB,GPX2,GPX2,GPX2 EXON Silent,Silent,Silent,Missense_E112K,Silent exm2276333 14 65409292 [A/G] NM_001202558,NM_001202559,NR_046320,NM_002083,NR_046321 CHURC1-FNTB,CHURC1-FNTB,GPX2,GPX2,GPX2 EXON Silent,Silent,Silent,Synonymous_N51N,Silent exm1108857 14 65417070 [A/C] NM_001202558,NM_001202559,NM_198686 CHURC1-FNTB,CHURC1-FNTB,RAB15 EXON Silent,Silent,Missense_G173V exm1108859 14 65417091 [T/C] NM_001202558,NM_001202559,NM_198686 CHURC1-FNTB,CHURC1-FNTB,RAB15 EXON Silent,Silent,Missense_R166K exm1108866 14 65417745 [A/G] NM_001202558,NM_001202559,NM_198686 CHURC1-FNTB,CHURC1-FNTB,RAB15 EXON Silent,Silent,Missense_P124L exm2272098 14 65428165 [T/C] NM_001202558,NM_001202559,NM_198686 CHURC1-FNTB,CHURC1-FNTB,RAB15 Silent,Silent,Silent exm-rs4466998 14 65475540 [A/C] NM_001202558,NM_001202559,NM_002028,NM_001271069,NM_197957 CHURC1-FNTB,CHURC1-FNTB,FNTB,MAX,MAX Silent,Silent,Silent,Silent,Silent exm1108898 14 65479035 [A/G] NM_001202558,NM_001202559,NM_002028,NM_001271069,NM_197957 CHURC1-FNTB,CHURC1-FNTB,FNTB,MAX,MAX EXON Synonymous_R24R,Synonymous_R131R,Synonymous_R70R,Silent,Silent exm1108914 14 65507588 [T/C] NM_001202558,NM_001202559,NM_002028,NM_001271069,NM_197957 CHURC1-FNTB,CHURC1-FNTB,FNTB,MAX,MAX EXON Missense_A212V,Missense_A319V,Missense_A258V,Silent,Silent exm2251884 14 65519990 [T/C] NM_001202558,NM_001202559,NM_002028,NM_001271069,NM_197957 CHURC1-FNTB,CHURC1-FNTB,FNTB,MAX,MAX EXON Synonymous_F284F,Synonymous_F391F,Synonymous_F330F,Silent,Silent exm1108943 14 65527969 [A/C] NM_001202558,NM_001202559,NM_002028,NM_001271069,NM_197957 CHURC1-FNTB,CHURC1-FNTB,FNTB,MAX,MAX EXON Missense_K372T,Missense_K479T,Missense_K418T,Silent,Silent exm1108944 14 65527977 [T/C] NM_001202558,NM_001202559,NM_002028,NM_001271069,NM_197957 CHURC1-FNTB,CHURC1-FNTB,FNTB,MAX,MAX EXON Missense_P375S,Missense_P482S,Missense_P421S,Silent,Silent exm1108946 14 65528003 [C/G] NM_001202558,NM_001202559,NM_002028,NM_001271069,NM_197957 CHURC1-FNTB,CHURC1-FNTB,FNTB,MAX,MAX EXON Missense_E383D,Missense_E490D,Missense_E429D,Silent,Silent exm1108947 14 65528008 [T/C] NM_001202558,NM_001202559,NM_002028,NM_001271069,NM_197957 CHURC1-FNTB,CHURC1-FNTB,FNTB,MAX,MAX EXON Missense_S385L,Missense_S492L,Missense_S431L,Silent,Silent exm1108954 14 65543271 [T/C] NM_001271069,NM_197957,NM_145112,NM_002382,NM_145113,NR_073137 MAX,MAX,MAX,MAX,MAX,MAX EXON Silent,Silent,Missense_G127R,Missense_G136R,Silent,Silent exm1108971 14 65550905 [T/C] NM_001271069,NM_197957,NM_145112,NM_002382,NM_145113,NR_073137,NM_001271068,NR_073138,NM_145114 MAX,MAX,MAX,MAX,MAX,MAX,MAX,MAX,MAX EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_K86R,Silent,Missense_K95R exm1108973 14 65550984 [T/C] NM_001271069,NM_197957,NM_145112,NM_002382,NM_145113,NR_073137,NM_001271068,NR_073138,NM_145114 MAX,MAX,MAX,MAX,MAX,MAX,MAX,MAX,MAX EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_V60I,Silent,Missense_V69I exm2260350 14 65573162 [A/G] exm2272099 14 65638277 [T/C] exm-rs7158173 14 65645250 [T/C] exm-rs1256531 14 65747759 [A/G] exm-rs7159888 14 65758642 [A/G] exm-rs10483776 14 65914867 [A/G] NR_038167,NM_178155,NM_178156,NM_004480,NR_038170 FUT8,FUT8,FUT8,FUT8,FUT8 Silent,Silent,Silent,Silent,Silent exm2222654 14 66082779 [A/G] NR_038167,NM_178155,NM_178156,NM_004480,NR_038170 FUT8,FUT8,FUT8,FUT8,FUT8 EXON Silent,Missense_Q96R,Missense_Q96R,Silent,Silent exm1109013 14 66082793 [A/C] NR_038167,NM_178155,NM_178156,NM_004480,NR_038170 FUT8,FUT8,FUT8,FUT8,FUT8 EXON Silent,Missense_K101Q,Missense_K101Q,Silent,Silent exm1109017 14 66082979 [A/G] NR_038167,NM_178155,NM_178156,NM_004480,NR_038170 FUT8,FUT8,FUT8,FUT8,FUT8 EXON Silent,Missense_K124E,Missense_K124E,Silent,Silent exm1109025 14 66096297 [A/G] NR_038167,NM_178155,NM_178156,NM_004480,NR_038170 FUT8,FUT8,FUT8,FUT8,FUT8 EXON Silent,Synonymous_L190L,Synonymous_L190L,Synonymous_L27L,Silent exm2251886 14 66096297 [A/G] NR_038167,NM_178155,NM_178156,NM_004480,NR_038170 FUT8,FUT8,FUT8,FUT8,FUT8 EXON Silent,Synonymous_L190L,Synonymous_L190L,Synonymous_L27L,Silent exm1109028 14 66136163 [A/C] NR_038167,NM_178155,NM_178156,NM_004480,NR_038170 FUT8,FUT8,FUT8,FUT8,FUT8 EXON Silent,Missense_T267K,Missense_T267K,Missense_T104K,Silent exm1109053 14 66209049 [T/C] NR_038167,NM_178155,NM_178156,NM_004480,NR_038170 FUT8,FUT8,FUT8,FUT8,FUT8 EXON Silent,Missense_T550M,Missense_T550M,Missense_T387M,Silent exm-rs8007846 14 66262963 [A/G] exm2272100 14 66277285 [T/G] exm2272101 14 66407339 [T/C] exm2272178 14 66699865 [T/C] exm2272102 14 67040643 [T/G] NM_020806,NM_001024218 GPHN,GPHN Silent,Silent exm-rs8015958 14 67086676 [T/G] NM_020806,NM_001024218 GPHN,GPHN Silent,Silent exm1109101 14 67147887 [T/G] NM_020806,NM_001024218 GPHN,GPHN EXON Missense_V43L,Missense_V43L exm1109107 14 67291261 [A/G] NM_020806,NM_001024218 GPHN,GPHN EXON Missense_A91T,Missense_A91T exm1109118 14 67390981 [A/G] NM_020806,NM_001024218 GPHN,GPHN EXON Missense_N267S,Silent exm2260352 14 67524525 [T/C] NM_020806,NM_001024218 GPHN,GPHN Silent,Silent exm1109138 14 67567623 [A/G] NM_020806,NM_001024218 GPHN,GPHN EXON Missense_E430K,Missense_E397K exm1109157 14 67635668 [T/G] NM_020806,NM_001024218 GPHN,GPHN EXON Missense_V665G,Missense_V632G exm1109162 14 67647536 [C/G] NM_020806,NM_001024218 GPHN,GPHN EXON Missense_S731T,Missense_S698T exm1109167 14 67664908 [A/G] NM_173526 FAM71D EXON Missense_M10I exm1109171 14 67665027 [A/G] NM_173526 FAM71D EXON Missense_N50S exm1109174 14 67669865 [A/G] NM_173526 FAM71D EXON Missense_V72I exm1109175 14 67669884 [C/G] NM_173526 FAM71D EXON Missense_S78T exm1109185 14 67671483 [A/C] NM_173526 FAM71D EXON Missense_T197P exm1109190 14 67671585 [A/T] NM_173526 FAM71D EXON Missense_S231C exm1109191 14 67671597 [T/C] NM_173526 FAM71D EXON Missense_P235S exm1109192 14 67671618 [A/G] NM_173526 FAM71D EXON Missense_D242N exm1109198 14 67671736 [T/C] NM_173526 FAM71D EXON Missense_I281T exm1109204 14 67675015 [A/C] NM_173526 FAM71D EXON Missense_I337L exm1109216 14 67675156 [A/G] NM_173526 FAM71D EXON Missense_E384K exm2251892 14 67737650 [C/G] NM_001256550,NM_022474 MPP5,MPP5 Silent,Silent exm1109229 14 67745972 [T/C] NM_001256550,NM_022474 MPP5,MPP5 EXON Silent,Missense_H29Y exm1109234 14 67746060 [A/G] NM_001256550,NM_022474 MPP5,MPP5 EXON Missense_R24H,Missense_R58H exm1109235 14 67746065 [T/C] NM_001256550,NM_022474 MPP5,MPP5 EXON Missense_R26W,Missense_R60W exm1109249 14 67759282 [A/C] NM_001256550,NM_022474 MPP5,MPP5 EXON Missense_S107Y,Missense_S141Y exm1109252 14 67759390 [A/G] NM_001256550,NM_022474 MPP5,MPP5 EXON Missense_S143N,Missense_S177N exm1109261 14 67768720 [A/G] NM_001256550,NM_022474 MPP5,MPP5 EXON Missense_E195G,Missense_E229G exm1109263 14 67768756 [G/C] NM_001256550,NM_022474 MPP5,MPP5 EXON Missense_R207T,Missense_R241T exm1109266 14 67768828 [T/C] NM_001256550,NM_022474 MPP5,MPP5 EXON Missense_I231T,Missense_I265T exm1109290 14 67786979 [A/G] NM_001256550,NM_022474 MPP5,MPP5 EXON Missense_E434K,Missense_E468K exm1109295 14 67787071 [G/C] NM_001256550,NM_022474 MPP5,MPP5 EXON Missense_R464S,Missense_R498S exm1109303 14 67787968 [T/C] NM_001256550,NM_022474 MPP5,MPP5 EXON Missense_R544C,Missense_R578C exm1109310 14 67799603 [A/C] NM_001256550,NM_022474 MPP5,MPP5 EXON Missense_Q619P,Missense_Q653P exm1109322 14 67807223 [T/C] NM_015994 ATP6V1D EXON Missense_R179Q exm1109344 14 67819672 [A/G] NM_015994 ATP6V1D EXON Nonsense_R43X exm2277071 14 67819735 [A/G] NM_015994 ATP6V1D EXON Missense_R22C exm1109371 14 67848325 [T/G] NM_004094 EIF2S1 EXON Missense_C199F exm1109378 14 67849200 [A/G] NM_004094 EIF2S1 EXON Missense_T239A exm1109397 14 67854986 [A/G] NM_016445 PLEK2 EXON Missense_R297C exm1109400 14 67857432 [T/C] NM_016445 PLEK2 EXON Missense_R268H exm1109408 14 67859398 [G/C] NM_016445 PLEK2 EXON Missense_S217C exm1109409 14 67859400 [G/C] NM_016445 PLEK2 EXON Missense_D216E exm1109429 14 67862228 [T/C] NM_016445 PLEK2 EXON Missense_A94T exm1109432 14 67862242 [T/C] NM_016445 PLEK2 EXON Missense_R89Q exm1109435 14 67862269 [A/G] NM_016445 PLEK2 EXON Missense_T80M exm1109436 14 67864384 [A/G] NM_016445 PLEK2 EXON Nonsense_R68X exm1109437 14 67864395 [T/G] NM_016445 PLEK2 EXON Missense_E64A exm1109474 14 67940444 [T/C] NM_182526 TMEM229B EXON Missense_R66Q exm1817828 14 68022572 [A/G] NM_020715 PLEKHH1 EXON Missense_A53T exm1109482 14 68023989 [G/C] NM_020715 PLEKHH1 EXON Missense_G65R exm1109484 14 68024020 [A/G] NM_020715 PLEKHH1 EXON Missense_N75S exm1109489 14 68024134 [T/A] NM_020715 PLEKHH1 EXON Missense_Q113L exm1109494 14 68028893 [T/C] NM_020715 PLEKHH1 EXON Missense_P182L exm1109498 14 68029048 [A/G] NM_020715 PLEKHH1 EXON Missense_S234G exm1109499 14 68029051 [T/C] NM_020715 PLEKHH1 EXON Missense_P235S exm1109506 14 68029286 [T/C] NM_020715 PLEKHH1 EXON Missense_P313L exm1109510 14 68029313 [A/G] NM_020715 PLEKHH1 EXON Missense_R322Q exm1109522 14 68035879 [A/G] NM_020715 PLEKHH1 EXON Missense_T430A exm1109525 14 68035903 [A/G] NM_020715 PLEKHH1 EXON Missense_M438V exm1109545 14 68040028 [A/G] NM_020715 PLEKHH1 EXON Missense_M588I exm1109546 14 68040099 [T/C] NM_020715 PLEKHH1 EXON Missense_S612F exm1109551 14 68040573 [T/C] NM_020715 PLEKHH1 EXON Missense_I632T exm1109560 14 68041061 [A/G] NM_020715 PLEKHH1 EXON Missense_G677R exm1109566 14 68042142 [A/G] NM_020715 PLEKHH1 EXON Missense_A708T exm1109573 14 68042565 [A/G] NM_020715 PLEKHH1 EXON Missense_R732Q exm1109575 14 68042573 [A/C] NM_020715 PLEKHH1 EXON Missense_H735N exm1109576 14 68042574 [A/G] NM_020715 PLEKHH1 EXON Missense_H735R exm1109577 14 68042636 [T/C] NM_020715 PLEKHH1 EXON Missense_R756W exm1109584 14 68044060 [C/G] NM_020715 PLEKHH1 EXON Missense_D835H exm1109596 14 68044896 [G/C] NM_020715 PLEKHH1 EXON Missense_Q911E exm1109599 14 68045278 [T/C] NM_020715 PLEKHH1 EXON Missense_P927S exm1109606 14 68045912 [A/G] NM_020715 PLEKHH1 EXON Missense_G971R exm2251895 14 68045935 [A/G] NM_020715 PLEKHH1 EXON Synonymous_S978S exm1109610 14 68046002 [A/G] NM_020715 PLEKHH1 EXON Missense_V1001M exm1109616 14 68046499 [T/C] NM_020715 PLEKHH1 EXON Missense_I1030T exm1109621 14 68046573 [T/C] NM_020715 PLEKHH1 EXON Missense_C1055R exm1109632 14 68050491 [T/C] NM_020715 PLEKHH1 EXON Missense_P1154S exm1109633 14 68050566 [T/C] NM_020715 PLEKHH1 EXON Missense_R1179C exm1109639 14 68050756 [A/G] NM_020715 PLEKHH1 EXON Missense_G1205E exm1109640 14 68050764 [G/C] NM_020715 PLEKHH1 EXON Missense_P1208A exm1109646 14 68052727 [A/C] NM_020715 PLEKHH1 EXON Missense_D1282E exm1109647 14 68052797 [T/C] NM_020715 PLEKHH1 EXON Missense_R1306W exm1109660 14 68053899 [T/C] NM_020715 PLEKHH1 EXON Nonsense_R1348X exm1109669 14 68059360 [T/C] NM_004569 PIGH EXON Missense_V156I exm2274702 14 68066757 [A/T] NM_004569 PIGH EXON Missense_L55H exm1109695 14 68086701 [T/C] NM_001172 ARG2 EXON Synonymous_L3L exm2251896 14 68086701 [T/C] NM_001172 ARG2 EXON Synonymous_L3L exm1109698 14 68086741 [A/G] NM_001172 ARG2 EXON Missense_H16R exm2267718 14 68089430 [A/G] NM_001172 ARG2 Silent exm1109709 14 68112392 [A/G] NM_001172 ARG2 EXON Missense_R132Q exm1109721 14 68113717 [T/C] NM_001172 ARG2 EXON Nonsense_R233X exm1109722 14 68113738 [C/G] NM_001172 ARG2 EXON Missense_G240R exm1109738 14 68117587 [A/T] NM_001172 ARG2 EXON Missense_T339S exm1109739 14 68117605 [A/G] NM_001172 ARG2 EXON Missense_E345K exm1109740 14 68117623 [T/C] NM_001172 ARG2 EXON Missense_R351C exm1109743 14 68117626 [T/G] NM_001172 ARG2 EXON Missense_V352L exm1817929 14 68120170 [A/G] NM_006370 VTI1B EXON Missense_R196C exm1109755 14 68123146 [T/C] NM_006370 VTI1B EXON Missense_R176H exm1109759 14 68123282 [T/C] NM_006370 VTI1B EXON Missense_M131V exm1109774 14 68129221 [A/C] NM_006370 VTI1B EXON Missense_D49E exm1109793 14 68156965 [T/C] NM_016026,NM_001252650 RDH11,RDH11 EXON Missense_I210V,Silent exm1109802 14 68157910 [A/G] NM_016026,NM_001252650 RDH11,RDH11 EXON Missense_P134L,Missense_P134L exm1109804 14 68157944 [T/C] NM_016026,NM_001252650 RDH11,RDH11 EXON Missense_V123I,Missense_V123I exm1109808 14 68159269 [T/C] NM_016026,NM_001252650 RDH11,RDH11 EXON Missense_E79K,Missense_E79K exm1109826 14 68191206 [A/G] NM_152443 RDH12 EXON Missense_G29R exm1109837 14 68191305 [T/C] NM_152443 RDH12 EXON Nonsense_R62X exm2267669 14 68191368 [A/G] NM_152443 RDH12 Silent exm1109848 14 68191945 [A/G] NM_152443 RDH12 EXON Missense_R106Q exm1109854 14 68193731 [A/G] NM_152443 RDH12 EXON Missense_R161Q exm1109863 14 68193820 [A/G] NM_152443 RDH12 EXON Missense_E191K exm2273518 14 68213744 [A/G] NM_015346 ZFYVE26 EXON Silent exm1109893 14 68215244 [T/C] NM_015346 ZFYVE26 EXON Missense_S2510N exm1109904 14 68219084 [T/C] NM_015346 ZFYVE26 EXON Missense_A2450T exm1109913 14 68220861 [A/G] NM_015346 ZFYVE26 EXON Missense_T2352I exm2251897 14 68220866 [A/G] NM_015346 ZFYVE26 EXON Synonymous_A2350A exm1109928 14 68222694 [T/C] NM_015346 ZFYVE26 EXON Missense_I2253V exm1109931 14 68222802 [C/G] NM_015346 ZFYVE26 EXON Missense_L2217V exm1109939 14 68228249 [A/G] NM_015346 ZFYVE26 EXON Missense_T2141M exm1109947 14 68229060 [T/C] NM_015346 ZFYVE26 EXON Missense_G2077R exm1109950 14 68229095 [A/G] NM_015346 ZFYVE26 EXON Missense_A2065V exm1109952 14 68229393 [A/G] NM_015346 ZFYVE26 EXON Missense_V2052A exm1109953 14 68229394 [T/C] NM_015346 ZFYVE26 EXON Missense_V2052I exm1109955 14 68229462 [A/G] NM_015346 ZFYVE26 EXON Missense_I2029T exm1109960 14 68229529 [T/C] NM_015346 ZFYVE26 EXON Missense_S2007G exm1109965 14 68233028 [A/G] NM_015346 ZFYVE26 EXON Missense_T1976M exm2251898 14 68234427 [A/G] NM_015346 ZFYVE26 EXON Synonymous_Y1928Y exm1109975 14 68234497 [C/G] NM_015346 ZFYVE26 EXON Missense_A1905G exm1109978 14 68234539 [T/C] NM_015346 ZFYVE26 EXON Missense_N1891S exm2222669 14 68234550 [G/C] NM_015346 ZFYVE26 EXON Missense_D1887E exm1109988 14 68236320 [T/C] NM_015346 ZFYVE26 EXON Missense_C1871Y exm1110010 14 68241793 [T/C] NM_015346 ZFYVE26 EXON Missense_A1754T exm1818028 14 68241828 [G/C] NM_015346 ZFYVE26 EXON Missense_S1742C exm1110016 14 68242706 [T/C] NM_015346 ZFYVE26 EXON Missense_V1698M exm1110040 14 68248192 [T/C] NM_015346 ZFYVE26 EXON Missense_R1476Q exm1110045 14 68249499 [T/C] NM_015346 ZFYVE26 EXON Missense_C1457Y exm1110047 14 68249521 [A/C] NM_015346 ZFYVE26 EXON Missense_V1450F exm1110053 14 68249605 [T/C] NM_015346 ZFYVE26 EXON Missense_V1422M exm1818043 14 68249803 [A/C] NM_015346 ZFYVE26 EXON Missense_C1356G exm1110069 14 68249896 [A/G] NM_015346 ZFYVE26 EXON Missense_P1325S exm1110071 14 68249902 [A/C] NM_015346 ZFYVE26 EXON Missense_A1323S exm1110072 14 68249919 [A/G] NM_015346 ZFYVE26 EXON Missense_T1317M exm1110074 14 68250022 [T/C] NM_015346 ZFYVE26 EXON Missense_T1283A exm1110082 14 68250147 [T/C] NM_015346 ZFYVE26 EXON Missense_R1241Q exm1110083 14 68250174 [T/C] NM_015346 ZFYVE26 EXON Missense_C1232Y exm1110093 14 68251934 [A/G] NM_015346 ZFYVE26 EXON Missense_A1122V exm1110095 14 68251991 [A/G] NM_015346 ZFYVE26 EXON Missense_P1103L exm1110100 14 68252667 [T/C] NM_015346 ZFYVE26 EXON Missense_S1071N exm1110103 14 68252707 [A/G] NM_015346 ZFYVE26 EXON Missense_R1058W exm1110105 14 68252852 [T/A] NM_015346 ZFYVE26 EXON Missense_S1040T exm1110119 14 68256184 [C/G] NM_015346 ZFYVE26 EXON Missense_V963L exm1110122 14 68256219 [A/G] NM_015346 ZFYVE26 EXON Missense_T951M exm1110123 14 68256245 [T/C] NM_015346 ZFYVE26 EXON Missense_M942I exm1110132 14 68257352 [A/T] NM_015346 ZFYVE26 EXON Missense_T898S exm1110143 14 68260350 [T/C] NM_015346 ZFYVE26 EXON Missense_R843H exm1110156 14 68260903 [T/C] NM_015346 ZFYVE26 EXON Missense_S796G exm1110158 14 68260950 [T/C] NM_015346 ZFYVE26 EXON Missense_R780Q exm1110160 14 68264421 [T/C] NM_015346 ZFYVE26 EXON Missense_R767H exm1110171 14 68265034 [T/C] NM_015346 ZFYVE26 EXON Missense_V649M exm1110172 14 68265046 [T/C] NM_015346 ZFYVE26 EXON Missense_M645V exm1110177 14 68265135 [A/G] NM_015346 ZFYVE26 EXON Missense_S615F exm1110190 14 68268973 [A/G] NM_015346 ZFYVE26 EXON Missense_H488Y exm1110191 14 68270884 [C/G] NM_015346 ZFYVE26 EXON Missense_L457V exm1110193 14 68270902 [A/G] NM_015346 ZFYVE26 EXON Missense_L451F exm2276334 14 68270942 [A/G] NM_015346 ZFYVE26 EXON Synonymous_H437H exm1110200 14 68272021 [A/C] NM_015346 ZFYVE26 EXON Missense_G395V exm1110205 14 68272263 [A/G] NM_015346 ZFYVE26 EXON Missense_P364S exm1110220 14 68274174 [T/C] NM_015346 ZFYVE26 EXON Missense_G276D exm1110225 14 68274228 [T/C] NM_015346 ZFYVE26 EXON Missense_R258Q exm1110231 14 68274315 [T/G] NM_015346 ZFYVE26 EXON Missense_A229E exm1110235 14 68274324 [T/C] NM_015346 ZFYVE26 EXON Missense_R226H exm1110240 14 68274375 [A/G] NM_015346 ZFYVE26 EXON Missense_S209L exm2251899 14 68274377 [A/G] NM_015346 ZFYVE26 EXON Synonymous_D208D exm1110244 14 68274409 [A/G] NM_015346 ZFYVE26 EXON Nonsense_R198X exm1110249 14 68274526 [C/G] NM_015346 ZFYVE26 EXON Missense_D159H exm1110256 14 68280745 [T/C] NM_015346 ZFYVE26 EXON Nonsense_W77X exm1110258 14 68282607 [C/G] NM_015346 ZFYVE26 EXON Missense_R25P exm1110264 14 68282675 [T/A] NM_015346 ZFYVE26 EXON Missense_N2K exm1110267 14 68290285 [A/G] NM_133510,NM_133509,NM_002877 RAD51B,RAD51B,RAD51B EXON Missense_V9M,Missense_V9M,Missense_V9M exm1110276 14 68292235 [T/C] NM_133510,NM_133509,NM_002877 RAD51B,RAD51B,RAD51B EXON Nonsense_R47X,Nonsense_R47X,Nonsense_R47X exm1110281 14 68301824 [A/G] NM_133510,NM_133509,NM_002877 RAD51B,RAD51B,RAD51B EXON Missense_A76T,Missense_A76T,Missense_A76T exm1110284 14 68301872 [A/G] NM_133510,NM_133509,NM_002877 RAD51B,RAD51B,RAD51B EXON Missense_E92K,Missense_E92K,Missense_E92K exm1110291 14 68331763 [T/C] NM_133510,NM_133509,NM_002877 RAD51B,RAD51B,RAD51B EXON Missense_M120T,Missense_M120T,Missense_M120T exm1110295 14 68331832 [T/C] NM_133510,NM_133509,NM_002877 RAD51B,RAD51B,RAD51B EXON Missense_T143I,Missense_T143I,Missense_T143I exm1110297 14 68331840 [A/G] NM_133510,NM_133509,NM_002877 RAD51B,RAD51B,RAD51B EXON Missense_A146T,Missense_A146T,Missense_A146T exm1110299 14 68352648 [T/G] NM_133510,NM_133509,NM_002877 RAD51B,RAD51B,RAD51B EXON Missense_L172W,Missense_L172W,Missense_L172W exm1110301 14 68352656 [A/C] NM_133510,NM_133509,NM_002877 RAD51B,RAD51B,RAD51B EXON Missense_S175R,Missense_S175R,Missense_S175R exm1110302 14 68352672 [A/G] NM_133510,NM_133509,NM_002877 RAD51B,RAD51B,RAD51B EXON Missense_Y180C,Missense_Y180C,Missense_Y180C exm1110303 14 68352674 [T/C] NM_133510,NM_133509,NM_002877 RAD51B,RAD51B,RAD51B EXON Missense_R181W,Missense_R181W,Missense_R181W exm1110310 14 68353893 [A/G] NM_133510,NM_133509,NM_002877 RAD51B,RAD51B,RAD51B EXON Missense_K243R,Missense_K243R,Missense_K243R exm1110311 14 68353913 [T/G] NM_133510,NM_133509,NM_002877 RAD51B,RAD51B,RAD51B EXON Missense_S250A,Missense_S250A,Missense_S250A exm-rs911263 14 68753593 [T/C] NM_133510,NM_133509,NM_002877 RAD51B,RAD51B,RAD51B Silent,Silent,Silent exm-rs8017304 14 68785077 [A/G] NM_133510,NM_133509,NM_002877 RAD51B,RAD51B,RAD51B Silent,Silent,Silent exm2272180 14 68851441 [T/C] NM_133510,NM_133509,NM_002877 RAD51B,RAD51B,RAD51B Silent,Silent,Silent exm2251902 14 68911554 [T/C] NM_133510,NM_133509,NM_002877 RAD51B,RAD51B,RAD51B Silent,Silent,Silent exm-rs2074562 14 68934690 [A/G] NM_133510,NM_133509,NM_002877 RAD51B,RAD51B,RAD51B Silent,Silent,Silent exm1110324 14 68934899 [T/C] NM_133510,NM_133509,NM_002877 RAD51B,RAD51B,RAD51B EXON Missense_A323V,Missense_A323V,Missense_A323V exm-rs999737 14 69034682 [T/C] NM_133509 RAD51B Silent exm2251903 14 69179829 [T/C] exm-rs4902642 14 69210199 [A/G] exm1110367 14 69257119 [T/G] NM_004926,NM_001244701,NM_001244698 ZFP36L1,ZFP36L1,ZFP36L1 EXON Missense_P50T,Missense_P119T,Missense_P50T exm-rs1465788 14 69263599 [T/C] exm-rs4899260 14 69278204 [T/C] exm1110404 14 69341650 [A/C] NM_001130005,NM_001102,NM_001130004 ACTN1,ACTN1,ACTN1 EXON Missense_G864C,Missense_G869C,Missense_G891C exm1110405 14 69341653 [T/A] NM_001130005,NM_001102,NM_001130004 ACTN1,ACTN1,ACTN1 EXON Missense_T863S,Missense_T868S,Missense_T890S exm1110416 14 69343911 [T/C] NM_001130005,NM_001102,NM_001130004 ACTN1,ACTN1,ACTN1 EXON Missense_R798H,Missense_R803H,Missense_R825H exm1110446 14 69349272 [A/G] NM_001130005,NM_001102,NM_001130004 ACTN1,ACTN1,ACTN1 EXON Missense_T619M,Missense_T619M,Missense_T619M exm1110457 14 69350964 [A/G] NM_001130005,NM_001102,NM_001130004 ACTN1,ACTN1,ACTN1 EXON Missense_A519V,Missense_A519V,Missense_A519V exm1110501 14 69376049 [T/C] NM_001130005,NM_001102,NM_001130004 ACTN1,ACTN1,ACTN1 EXON Missense_G194R,Missense_G194R,Missense_G194R exm-rs2268983 14 69408697 [A/G] NM_001130005,NM_001102,NM_001130004 ACTN1,ACTN1,ACTN1 Silent,Silent,Silent exm1110541 14 69520743 [T/G] NM_003861 DCAF5 EXON Missense_E887A exm1110551 14 69520897 [A/G] NM_003861 DCAF5 EXON Missense_R836C exm1110567 14 69521338 [A/C] NM_003861 DCAF5 EXON Missense_A689S exm1110571 14 69521466 [T/C] NM_003861 DCAF5 EXON Missense_R646Q exm1818265 14 69521474 [T/G] NM_003861 DCAF5 EXON Missense_Q643H exm1110572 14 69521478 [A/G] NM_003861 DCAF5 EXON Missense_I642T exm1110579 14 69521601 [A/G] NM_003861 DCAF5 EXON Missense_A601V exm1110581 14 69521637 [T/C] NM_003861 DCAF5 EXON Missense_R589H exm1110584 14 69521652 [T/C] NM_003861 DCAF5 EXON Missense_R584Q exm1110585 14 69521674 [A/G] NM_003861 DCAF5 EXON Missense_R577C exm1110591 14 69521877 [T/C] NM_003861 DCAF5 EXON Missense_R509H exm1110594 14 69521943 [T/C] NM_003861 DCAF5 EXON Missense_R487Q exm1110613 14 69522279 [T/C] NM_003861 DCAF5 EXON Missense_R375Q exm-rs4899280 14 69526307 [T/C] NM_003861 DCAF5 Silent exm1110633 14 69589012 [T/C] NM_003861 DCAF5 EXON Missense_I94V exm1818283 14 69695743 [A/G] NR_034164,NM_001193361,NM_001193360,NM_018199,NM_001193363,NM_001193362,NR_034165 EXD2,EXD2,EXD2,EXD2,EXD2,EXD2,EXD2 EXON Silent,Missense_V182I,Missense_V182I,Missense_V57I,Missense_V182I,Missense_V182I,Silent exm1110654 14 69695782 [T/C] NR_034164,NM_001193361,NM_001193360,NM_018199,NM_001193363,NM_001193362,NR_034165 EXD2,EXD2,EXD2,EXD2,EXD2,EXD2,EXD2 EXON Silent,Missense_R195W,Missense_R195W,Missense_R70W,Missense_R195W,Missense_R195W,Silent exm1110660 14 69697203 [G/C] NR_034164,NM_001193361,NM_001193360,NM_018199,NM_001193363,NM_001193362,NR_034165 EXD2,EXD2,EXD2,EXD2,EXD2,EXD2,EXD2 EXON Silent,Missense_C202S,Missense_C202S,Missense_C77S,Missense_C202S,Missense_C202S,Silent exm1110662 14 69697275 [A/G] NR_034164,NM_001193361,NM_001193360,NM_018199,NM_001193363,NM_001193362,NR_034165 EXD2,EXD2,EXD2,EXD2,EXD2,EXD2,EXD2 EXON Silent,Missense_R226H,Missense_R226H,Missense_R101H,Missense_R226H,Missense_R226H,Silent exm1110663 14 69697289 [A/G] NR_034164,NM_001193361,NM_001193360,NM_018199,NM_001193363,NM_001193362,NR_034165 EXD2,EXD2,EXD2,EXD2,EXD2,EXD2,EXD2 EXON Silent,Missense_D231N,Missense_D231N,Missense_D106N,Missense_D231N,Missense_D231N,Silent exm1110709 14 69704434 [A/G] NR_034164,NM_001193361,NM_001193360,NM_018199,NM_001193363,NM_001193362,NR_034165 EXD2,EXD2,EXD2,EXD2,EXD2,EXD2,EXD2 EXON Silent,Missense_K479E,Missense_K479E,Missense_K354E,Missense_K479E,Missense_K479E,Silent exm2267719 14 69712935 [A/G] exm1110755 14 69787572 [A/C] NM_001168368,NM_020692 GALNT16,GALNT16 EXON Missense_T108P,Missense_T108P exm1110762 14 69791444 [T/C] NM_001168368,NM_020692 GALNT16,GALNT16 EXON Missense_A124V,Missense_A124V exm1110766 14 69792064 [T/C] NM_001168368,NM_020692 GALNT16,GALNT16 EXON Nonsense_R149X,Nonsense_R149X exm1110771 14 69792680 [A/G] NM_001168368,NM_020692 GALNT16,GALNT16 EXON Synonymous_P168P,Synonymous_P168P exm1110772 14 69792700 [T/C] NM_001168368,NM_020692 GALNT16,GALNT16 EXON Missense_T175I,Missense_T175I exm1110774 14 69792727 [A/G] NM_001168368,NM_020692 GALNT16,GALNT16 EXON Missense_R184H,Missense_R184H exm1110777 14 69795168 [A/G] NM_001168368,NM_020692 GALNT16,GALNT16 EXON Synonymous_G190G,Synonymous_G190G exm1110781 14 69795199 [A/G] NM_001168368,NM_020692 GALNT16,GALNT16 EXON Missense_V201M,Missense_V201M exm1110783 14 69795214 [A/G] NM_001168368,NM_020692 GALNT16,GALNT16 EXON Missense_V206I,Missense_V206I exm1110792 14 69798191 [A/G] NM_001168368,NM_020692 GALNT16,GALNT16 EXON Missense_R234H,Missense_R234H exm1110819 14 69808415 [A/T] NM_001168368,NM_020692 GALNT16,GALNT16 EXON Missense_E402V,Missense_E402V exm1110820 14 69808447 [T/C] NM_001168368,NM_020692 GALNT16,GALNT16 EXON Missense_R413C,Missense_R413C exm2267670 14 69812279 [A/G] NM_001168368,NM_020692 GALNT16,GALNT16 Silent,Silent exm1110827 14 69813764 [A/G] NM_001168368,NM_020692 GALNT16,GALNT16 EXON Missense_V427M,Missense_V427M exm1110828 14 69813776 [T/C] NM_001168368,NM_020692 GALNT16,GALNT16 EXON Missense_L431F,Missense_L431F exm1110831 14 69814612 [T/C] NM_001168368,NM_020692 GALNT16,GALNT16 EXON Missense_H478Y,Missense_H478Y exm1110834 14 69814669 [T/C] NM_001168368,NM_020692 GALNT16,GALNT16 EXON Missense_P497S,Missense_P497S exm2222686 14 69814685 [T/C] NM_001168368,NM_020692 GALNT16,GALNT16 EXON Missense_I502T,Missense_I502T exm1110839 14 69818847 [A/G] NM_001168368,NM_020692 GALNT16,GALNT16 EXON Missense_A547T,Missense_A547T exm2222687 14 69890906 [A/C] NM_001252152,NM_001252151,NM_001252148,NM_018375,NM_001252150 SLC39A9,SLC39A9,SLC39A9,SLC39A9,SLC39A9 EXON Silent,Silent,Missense_E64D,Missense_E64D,Missense_E64D exm1110868 14 69920011 [A/G] NM_001252152,NM_001252151,NM_001252148,NM_018375,NM_001252150 SLC39A9,SLC39A9,SLC39A9,SLC39A9,SLC39A9 EXON Missense_V35I,Missense_V35I,Silent,Missense_V153I,Missense_V153I exm1110874 14 69922552 [T/C] NM_001252152,NM_001252151,NM_001252148,NM_018375,NM_001252150 SLC39A9,SLC39A9,SLC39A9,SLC39A9,SLC39A9 EXON Missense_M103T,Missense_M103T,Missense_M198T,Missense_M221T,Missense_M221T exm1110879 14 69925212 [A/G] NM_001252152,NM_001252151,NM_001252148,NM_018375,NM_001252150 SLC39A9,SLC39A9,SLC39A9,SLC39A9,SLC39A9 EXON Missense_D158N,Missense_D158N,Missense_D253N,Missense_D276N,Silent exm1110880 14 69925219 [T/C] NM_001252152,NM_001252151,NM_001252148,NM_018375,NM_001252150 SLC39A9,SLC39A9,SLC39A9,SLC39A9,SLC39A9 EXON Missense_T160M,Missense_T160M,Missense_T255M,Missense_T278M,Silent exm2222688 14 69967603 [T/G] NM_001161498 PLEKHD1 EXON Missense_A117S exm1110902 14 69992838 [T/C] NM_001161498 PLEKHD1 EXON Missense_R308W exm1110910 14 69993944 [T/C] NM_001161498 PLEKHD1 EXON Missense_R366W exm1110921 14 69995111 [T/C] NM_001161498 PLEKHD1 EXON Missense_S499L exm1110934 14 70125376 [A/G] NM_014734 KIAA0247 EXON Missense_V23M exm1110938 14 70125419 [T/G] NM_014734 KIAA0247 EXON Missense_G37V exm1110958 14 70171401 [T/C] NM_014734 KIAA0247 EXON Missense_L134F exm1110959 14 70171404 [G/C] NM_014734 KIAA0247 EXON Missense_L135V exm1110976 14 70175656 [A/G] NM_014734 KIAA0247 EXON Missense_A241T exm1110977 14 70175668 [T/C] NM_014734 KIAA0247 EXON Missense_R245W exm1110978 14 70175690 [T/G] NM_014734 KIAA0247 EXON Missense_V252G exm1110979 14 70175693 [A/C] NM_014734 KIAA0247 EXON Missense_H253P exm1110987 14 70234885 [T/G] NM_001039465,NM_006925 SRSF5,SRSF5 EXON Missense_C4W,Missense_C4W exm1111006 14 70237960 [T/C] NM_001039465,NM_006925 SRSF5,SRSF5 EXON Missense_R201C,Missense_R201C exm1111008 14 70237999 [T/C] NM_001039465,NM_006925 SRSF5,SRSF5 EXON Missense_R214W,Missense_R214W exm1111011 14 70238023 [T/C] NM_001039465,NM_006925 SRSF5,SRSF5 EXON Missense_R222W,Missense_R222W exm2251905 14 70243089 [T/G] NM_003049 SLC10A1 EXON Synonymous_I320I exm1111031 14 70243092 [T/C] NM_003049 SLC10A1 EXON Missense_M319I exm1111036 14 70245116 [C/G] NM_003049 SLC10A1 EXON Missense_Q293E exm1111037 14 70245157 [A/G] NM_003049 SLC10A1 EXON Missense_I279T exm1111039 14 70245193 [A/G] NM_003049 SLC10A1 EXON Missense_S267F exm1111041 14 70245238 [T/C] NM_003049 SLC10A1 EXON Missense_R252H exm1111042 14 70245239 [A/G] NM_003049 SLC10A1 EXON Missense_R252C exm1111045 14 70245900 [T/G] NM_003049 SLC10A1 EXON Synonymous_R249R exm1111050 14 70245977 [A/G] NM_003049 SLC10A1 EXON Missense_I223T exm1111052 14 70246006 [C/G] NM_003049 SLC10A1 EXON Missense_S213R exm1111058 14 70246041 [T/C] NM_003049 SLC10A1 EXON Missense_V202I exm2222690 14 70246047 [T/C] NM_003049 SLC10A1 EXON Missense_V200M exm1111060 14 70246062 [T/G] NM_003049 SLC10A1 EXON Missense_I195L exm1818462 14 70252853 [C/G] NM_003049 SLC10A1 EXON Synonymous_L176L exm1111068 14 70252878 [A/G] NM_003049 SLC10A1 EXON Missense_I168T exm1111070 14 70252885 [A/C] NM_003049 SLC10A1 EXON Missense_V166F exm1111086 14 70263610 [A/G] NM_003049 SLC10A1 EXON Missense_I88T exm1111094 14 70263751 [A/G] NM_003049 SLC10A1 EXON Missense_S41L exm2222692 14 70263769 [T/A] NM_003049 SLC10A1 EXON Nonsense_L35X exm1111105 14 70418858 [G/C] NM_001034852,NM_022137 SMOC1,SMOC1 EXON Missense_L35V,Missense_L35V exm1111109 14 70418918 [T/A] NM_001034852,NM_022137 SMOC1,SMOC1 EXON Missense_I55F,Missense_I55F exm1111112 14 70418985 [T/C] NM_001034852,NM_022137 SMOC1,SMOC1 EXON Missense_P77L,Missense_P77L exm1111115 14 70418999 [A/G] NM_001034852,NM_022137 SMOC1,SMOC1 EXON Missense_V82M,Missense_V82M exm1111116 14 70419008 [C/G] NM_001034852,NM_022137 SMOC1,SMOC1 EXON Missense_G85R,Missense_G85R exm2222694 14 70420190 [A/C] NM_001034852,NM_022137 SMOC1,SMOC1 EXON Missense_K107Q,Missense_K107Q exm2274705 14 70459181 [A/G] NM_001034852,NM_022137 SMOC1,SMOC1 EXON Missense_D192N,Missense_D192N exm2272105 14 70462361 [T/C] NM_001034852,NM_022137 SMOC1,SMOC1 Silent,Silent exm1111161 14 70478230 [A/G] NM_001034852,NM_022137 SMOC1,SMOC1 EXON Missense_A296T,Missense_A296T exm1111171 14 70489920 [T/G] NM_001034852,NM_022137 SMOC1,SMOC1 EXON Missense_R349S,Missense_R349S exm1111175 14 70490017 [T/C] NM_001034852,NM_022137 SMOC1,SMOC1 EXON Missense_R382W,Missense_R382W exm1111196 14 70512889 [C/G] NM_183002,NM_182932,NM_182936,NM_058240,NM_033262,NM_001130417 SLC8A3,SLC8A3,SLC8A3,SLC8A3,SLC8A3,SLC8A3 EXON Missense_E853D,Missense_E847D,Missense_E210D,Missense_E850D,Missense_E851D,Missense_E224D exm1111203 14 70512987 [T/C] NM_183002,NM_182932,NM_182936,NM_058240,NM_033262,NM_001130417 SLC8A3,SLC8A3,SLC8A3,SLC8A3,SLC8A3,SLC8A3 EXON Missense_I821V,Missense_I815V,Missense_I178V,Missense_I818V,Missense_I819V,Missense_I192V exm1111207 14 70515508 [T/C] NM_183002,NM_182932,NM_182936,NM_058240,NM_033262,NM_001130417 SLC8A3,SLC8A3,SLC8A3,SLC8A3,SLC8A3,SLC8A3 EXON Missense_V795M,Missense_V789M,Missense_V152M,Missense_V792M,Missense_V793M,Missense_V166M exm1111210 14 70515576 [A/G] NM_183002,NM_182932,NM_182936,NM_058240,NM_033262,NM_001130417 SLC8A3,SLC8A3,SLC8A3,SLC8A3,SLC8A3,SLC8A3 EXON Missense_I772T,Missense_I766T,Missense_I129T,Missense_I769T,Missense_I770T,Missense_I143T exm-rs12883884 14 70517183 [T/G] NM_183002,NM_182932,NM_182936,NM_058240,NM_033262,NM_001130417 SLC8A3,SLC8A3,SLC8A3,SLC8A3,SLC8A3,SLC8A3 Silent,Silent,Silent,Silent,Silent,Silent exm1111233 14 70518816 [T/C] NM_183002,NM_182932,NM_182936,NM_058240,NM_033262,NM_001130417 SLC8A3,SLC8A3,SLC8A3,SLC8A3,SLC8A3,SLC8A3 EXON Missense_K641R,Missense_K635R,Silent,Missense_K638R,Missense_K639R,Missense_K12R exm1111237 14 70522529 [T/C] NM_183002,NM_182932,NM_182936,NM_058240,NM_033262,NM_001130417 SLC8A3,SLC8A3,SLC8A3,SLC8A3,SLC8A3,SLC8A3 EXON Synonymous_A630A,Silent,Silent,Synonymous_A630A,Synonymous_A631A,Silent exm1111244 14 70530566 [T/C] NM_183002,NM_182932,NM_182936,NM_058240,NM_033262,NM_001130417 SLC8A3,SLC8A3,SLC8A3,SLC8A3,SLC8A3,SLC8A3 EXON Silent,Silent,Silent,Silent,Missense_R622H,Silent exm1111247 14 70530627 [A/C] NM_183002,NM_182932,NM_182936,NM_058240,NM_033262,NM_001130417 SLC8A3,SLC8A3,SLC8A3,SLC8A3,SLC8A3,SLC8A3 EXON Silent,Silent,Silent,Silent,Missense_V602L,Silent exm2272106 14 70591661 [T/C] NM_183002,NM_182932,NM_058240,NM_033262 SLC8A3,SLC8A3,SLC8A3,SLC8A3 Silent,Silent,Silent,Silent exm1111252 14 70633411 [T/C] NM_183002,NM_182932,NM_058240,NM_033262 SLC8A3,SLC8A3,SLC8A3,SLC8A3 EXON Missense_G577S,Missense_G577S,Missense_G577S,Missense_G577S exm1111257 14 70633624 [A/G] NM_183002,NM_182932,NM_058240,NM_033262 SLC8A3,SLC8A3,SLC8A3,SLC8A3 EXON Missense_L506F,Missense_L506F,Missense_L506F,Missense_L506F exm1111262 14 70633673 [T/C] NM_183002,NM_182932,NM_058240,NM_033262 SLC8A3,SLC8A3,SLC8A3,SLC8A3 EXON Missense_I489M,Missense_I489M,Missense_I489M,Missense_I489M exm1111264 14 70633678 [A/G] NM_183002,NM_182932,NM_058240,NM_033262 SLC8A3,SLC8A3,SLC8A3,SLC8A3 EXON Missense_R488C,Missense_R488C,Missense_R488C,Missense_R488C exm1111268 14 70633818 [T/C] NM_183002,NM_182932,NM_058240,NM_033262 SLC8A3,SLC8A3,SLC8A3,SLC8A3 EXON Missense_N441S,Missense_N441S,Missense_N441S,Missense_N441S exm1111271 14 70633890 [A/G] NM_183002,NM_182932,NM_058240,NM_033262 SLC8A3,SLC8A3,SLC8A3,SLC8A3 EXON Missense_T417I,Missense_T417I,Missense_T417I,Missense_T417I exm2276335 14 70634076 [A/C] NM_183002,NM_182932,NM_058240,NM_033262 SLC8A3,SLC8A3,SLC8A3,SLC8A3 EXON Missense_R355L,Missense_R355L,Missense_R355L,Missense_R355L exm1111279 14 70634125 [T/C] NM_183002,NM_182932,NM_058240,NM_033262 SLC8A3,SLC8A3,SLC8A3,SLC8A3 EXON Missense_A339T,Missense_A339T,Missense_A339T,Missense_A339T exm1111283 14 70634200 [T/C] NM_183002,NM_182932,NM_058240,NM_033262 SLC8A3,SLC8A3,SLC8A3,SLC8A3 EXON Missense_R314G,Missense_R314G,Missense_R314G,Missense_R314G exm1111287 14 70634287 [T/C] NM_183002,NM_182932,NM_058240,NM_033262 SLC8A3,SLC8A3,SLC8A3,SLC8A3 EXON Missense_I285V,Missense_I285V,Missense_I285V,Missense_I285V exm1111288 14 70634328 [T/C] NM_183002,NM_182932,NM_058240,NM_033262 SLC8A3,SLC8A3,SLC8A3,SLC8A3 EXON Missense_R271Q,Missense_R271Q,Missense_R271Q,Missense_R271Q exm1111289 14 70634332 [A/G] NM_183002,NM_182932,NM_058240,NM_033262 SLC8A3,SLC8A3,SLC8A3,SLC8A3 EXON Missense_H270Y,Missense_H270Y,Missense_H270Y,Missense_H270Y exm1111296 14 70634500 [A/G] NM_183002,NM_182932,NM_058240,NM_033262 SLC8A3,SLC8A3,SLC8A3,SLC8A3 EXON Missense_Y214H,Missense_Y214H,Missense_Y214H,Missense_Y214H exm2222696 14 70634521 [T/C] NM_183002,NM_182932,NM_058240,NM_033262 SLC8A3,SLC8A3,SLC8A3,SLC8A3 EXON Missense_A207T,Missense_A207T,Missense_A207T,Missense_A207T exm1111302 14 70634568 [T/C] NM_183002,NM_182932,NM_058240,NM_033262 SLC8A3,SLC8A3,SLC8A3,SLC8A3 EXON Missense_D191G,Missense_D191G,Missense_D191G,Missense_D191G exm1111303 14 70634578 [T/C] NM_183002,NM_182932,NM_058240,NM_033262 SLC8A3,SLC8A3,SLC8A3,SLC8A3 EXON Missense_V188M,Missense_V188M,Missense_V188M,Missense_V188M exm2251908 14 70634768 [T/G] NM_183002,NM_182932,NM_058240,NM_033262 SLC8A3,SLC8A3,SLC8A3,SLC8A3 EXON Synonymous_T124T,Synonymous_T124T,Synonymous_T124T,Synonymous_T124T exm1111313 14 70634791 [A/G] NM_183002,NM_182932,NM_058240,NM_033262 SLC8A3,SLC8A3,SLC8A3,SLC8A3 EXON Missense_P117S,Missense_P117S,Missense_P117S,Missense_P117S exm2260358 14 70655751 [A/C] NM_183002,NM_182932,NM_058240,NM_033262 SLC8A3,SLC8A3,SLC8A3,SLC8A3 EXON Silent,Silent,Silent,Silent exm1111345 14 70795901 [A/G] NM_001202547,NM_001202549,NM_016468,NM_001202548,NM_001204090 SYNJ2BP-COX16,SYNJ2BP-COX16,COX16,SYNJ2BP-COX16,COX16 EXON Missense_S150L,Missense_S117L,Missense_S65L,Missense_S141L,Missense_S41L exm1111348 14 70809446 [A/G] NM_001202547,NM_001202549,NM_016468,NM_001202548,NM_001204090 SYNJ2BP-COX16,SYNJ2BP-COX16,COX16,SYNJ2BP-COX16,COX16 EXON Silent,Silent,Synonymous_L24L,Synonymous_L100L,Silent exm1111350 14 70826259 [G/C] NM_001202547,NM_001202549,NM_016468,NM_001202548,NM_001204090 SYNJ2BP-COX16,SYNJ2BP-COX16,COX16,SYNJ2BP-COX16,COX16 EXON Silent,Silent,Missense_L16V,Silent,Missense_L16V exm1111356 14 70839721 [T/C] NM_001202547,NM_001202549,NM_001202548,NM_018373 SYNJ2BP-COX16,SYNJ2BP-COX16,SYNJ2BP-COX16,SYNJ2BP EXON Silent,Silent,Silent,Missense_R142Q exm1111362 14 70839847 [A/G] NM_001202547,NM_001202549,NM_001202548,NM_018373 SYNJ2BP-COX16,SYNJ2BP-COX16,SYNJ2BP-COX16,SYNJ2BP EXON Missense_L100S,Silent,Silent,Missense_L100S exm1111369 14 70855311 [T/G] NM_001202547,NM_001202549,NM_001202548,NM_018373 SYNJ2BP-COX16,SYNJ2BP-COX16,SYNJ2BP-COX16,SYNJ2BP EXON Missense_N26T,Missense_N26T,Missense_N26T,Missense_N26T exm1111370 14 70883637 [T/C] NM_001202547,NM_001202549,NM_001202548,NM_018373 SYNJ2BP-COX16,SYNJ2BP-COX16,SYNJ2BP-COX16,SYNJ2BP EXON Missense_N15S,Missense_N15S,Missense_N15S,Missense_N15S exm1111371 14 70883656 [T/C] NM_001202547,NM_001202549,NM_001202548,NM_018373 SYNJ2BP-COX16,SYNJ2BP-COX16,SYNJ2BP-COX16,SYNJ2BP EXON Missense_V9I,Missense_V9I,Missense_V9I,Missense_V9I exm1111387 14 70924413 [A/G] NM_003813 ADAM21 EXON Missense_R66Q exm1111389 14 70924433 [A/G] NM_003813 ADAM21 EXON Missense_V73I exm1111399 14 70924517 [A/G] NM_003813 ADAM21 EXON Missense_D101N exm1111428 14 70925102 [T/C] NM_003813 ADAM21 EXON Missense_H296Y exm1111429 14 70925124 [T/G] NM_003813 ADAM21 EXON Missense_L303R exm2222701 14 70925494 [T/G] NM_003813 ADAM21 EXON Missense_Q426H exm1111475 14 70926050 [C/G] NM_003813 ADAM21 EXON Missense_V612L exm1111476 14 70926112 [T/C] NM_003813 ADAM21 EXON Synonymous_H632H exm1111477 14 70926135 [A/G] NM_003813 ADAM21 EXON Missense_N640S exm1111483 14 70926257 [A/G] NM_003813 ADAM21 EXON Missense_G681R exm1111485 14 70926305 [T/C] NM_003813 ADAM21 EXON Missense_F697L exm1111488 14 70926330 [T/C] NM_003813 ADAM21 EXON Missense_M705T exm2272181 14 70985876 [T/C] exm1111496 14 70989325 [T/C] NM_003814 ADAM20 EXON Missense_R767H exm1111497 14 70989326 [A/G] NM_003814 ADAM20 EXON Missense_R767C exm1111499 14 70989377 [A/G] NM_003814 ADAM20 EXON Missense_L750F exm1111501 14 70989472 [T/C] NM_003814 ADAM20 EXON Missense_Y718C exm1111514 14 70989811 [T/C] NM_003814 ADAM20 EXON Nonsense_W605X exm1818608 14 70989851 [T/C] NM_003814 ADAM20 EXON Missense_G592S exm1111517 14 70989899 [A/C] NM_003814 ADAM20 EXON Missense_A576S exm1111523 14 70989947 [T/C] NM_003814 ADAM20 EXON Missense_N560D exm1111525 14 70989964 [T/C] NM_003814 ADAM20 EXON Missense_Y554C exm1111531 14 70990214 [A/G] NM_003814 ADAM20 EXON Missense_C471R exm1111542 14 70990348 [A/C] NM_003814 ADAM20 EXON Missense_F426C exm1111545 14 70990406 [A/C] NM_003814 ADAM20 EXON Missense_C407G exm1111548 14 70990550 [T/C] NM_003814 ADAM20 EXON Missense_G359S exm1111552 14 70990595 [T/C] NM_003814 ADAM20 EXON Missense_D344N exm1111553 14 70990599 [T/G] NM_003814 ADAM20 EXON Missense_Q342H exm1818613 14 70990615 [A/G] NM_003814 ADAM20 EXON Missense_L337P exm1111558 14 70990697 [T/A] NM_003814 ADAM20 EXON Missense_W310R exm1111559 14 70990699 [A/G] NM_003814 ADAM20 EXON Missense_I309T exm1111562 14 70990784 [T/G] NM_003814 ADAM20 EXON Missense_Q281K exm1111566 14 70990864 [A/G] NM_003814 ADAM20 EXON Missense_T254I exm1111567 14 70990904 [T/C] NM_003814 ADAM20 EXON Missense_N241D exm1111584 14 70991395 [T/C] NM_003814 ADAM20 EXON Missense_G77D exm-IND14-70061155 14 70991403 [D/I] NM_003814 ADAM20 EXON exm1111590 14 70991650 [A/C] NM_003814 ADAM20 EXON Silent exm1111601 14 71052475 [A/G] NM_005466 MED6 EXON Missense_P203L exm-rs9646133 14 71096344 [T/G] exm1111643 14 71137844 [T/G] NM_015351 TTC9 EXON Missense_C214F exm1111666 14 71197366 [A/G] NM_033141 MAP3K9 EXON Missense_R1030C exm1111670 14 71197384 [A/C] NM_033141 MAP3K9 EXON Missense_V1024L exm1111673 14 71197518 [T/C] NM_033141 MAP3K9 EXON Missense_N979S exm1111674 14 71197570 [T/A] NM_033141 MAP3K9 EXON Missense_T962S exm1111675 14 71197581 [T/C] NM_033141 MAP3K9 EXON Missense_G958E exm1111676 14 71199257 [T/C] NM_033141 MAP3K9 EXON Synonymous_A957A exm1111682 14 71199417 [T/C] NM_033141 MAP3K9 EXON Missense_R904Q exm1111688 14 71199457 [A/G] NM_033141 MAP3K9 EXON Missense_H891Y exm1818668 14 71199481 [T/C] NM_033141 MAP3K9 EXON Missense_A883T exm1111691 14 71199525 [T/C] NM_033141 MAP3K9 EXON Missense_S868N exm1111692 14 71199534 [T/C] NM_033141 MAP3K9 EXON Missense_R865H exm1111698 14 71199739 [A/G] NM_033141 MAP3K9 EXON Missense_P797S exm1111703 14 71199811 [T/C] NM_033141 MAP3K9 EXON Missense_V773I exm1111715 14 71199972 [T/C] NM_033141 MAP3K9 EXON Missense_R719H exm1111723 14 71201138 [A/G] NM_033141 MAP3K9 EXON Missense_P664L exm1111728 14 71201192 [T/C] NM_033141 MAP3K9 EXON Missense_Y646C exm1111738 14 71205017 [A/G] NM_033141 MAP3K9 EXON Missense_R597W exm1111739 14 71205067 [A/G] NM_033141 MAP3K9 EXON Missense_P580L exm1111749 14 71206848 [A/G] NM_033141 MAP3K9 EXON Missense_P534L exm1111751 14 71209085 [T/C] NM_033141 MAP3K9 EXON Missense_R517H exm1111752 14 71209086 [A/G] NM_033141 MAP3K9 EXON Missense_R517C exm1111755 14 71209128 [T/C] NM_033141 MAP3K9 EXON Missense_G503S exm1111762 14 71209277 [T/C] NM_033141 MAP3K9 EXON Missense_R453Q exm1111764 14 71209301 [T/C] NM_033141 MAP3K9 EXON Missense_R445H exm1111769 14 71215643 [T/C] NM_033141 MAP3K9 EXON Missense_G410D exm1111772 14 71216713 [T/C] NM_033141 MAP3K9 EXON Missense_M363V exm2251910 14 71236728 [A/C] NM_033141 MAP3K9 Silent exm1818702 14 71267411 [T/C] NM_033141 MAP3K9 EXON Missense_I265V exm1111797 14 71267725 [T/C] NM_033141 MAP3K9 EXON Missense_R160H exm-rs36563 14 71352648 [T/G] exm1818717 14 71413711 [A/C] NM_014982 PCNX EXON Missense_N78T exm1111825 14 71413777 [A/G] NM_014982 PCNX EXON Missense_D100G exm1111826 14 71413782 [G/C] NM_014982 PCNX EXON Missense_R102G exm1111829 14 71413817 [T/G] NM_014982 PCNX EXON Missense_R113S exm1111831 14 71413837 [T/C] NM_014982 PCNX EXON Missense_P120L exm1111836 14 71434943 [T/C] NM_014982 PCNX EXON Missense_T166I exm1111843 14 71443674 [A/G] NM_014982 PCNX EXON Missense_R207Q exm1111844 14 71443686 [A/G] NM_014982 PCNX EXON Missense_R211H exm1111848 14 71443758 [A/G] NM_014982 PCNX EXON Missense_D235G exm1111853 14 71443826 [A/G] NM_014982 PCNX EXON Missense_A258T exm1111863 14 71443976 [T/C] NM_014982 PCNX EXON Missense_R308C exm2222707 14 71444041 [C/G] NM_014982 PCNX EXON Missense_L329F exm1111869 14 71444097 [A/G] NM_014982 PCNX EXON Missense_N348S exm1111872 14 71444220 [T/C] NM_014982 PCNX EXON Missense_T389M exm1111888 14 71444427 [T/C] NM_014982 PCNX EXON Missense_A458V exm1111891 14 71444452 [C/G] NM_014982 PCNX EXON Missense_E466D exm1111893 14 71444495 [A/G] NM_014982 PCNX EXON Missense_G481S exm2222709 14 71444577 [A/G] NM_014982 PCNX EXON Missense_G508E exm1111899 14 71444592 [A/G] NM_014982 PCNX EXON Missense_N513S exm1111907 14 71444834 [A/G] NM_014982 PCNX EXON Missense_A594T exm1111908 14 71444837 [A/C] NM_014982 PCNX EXON Missense_I595L exm1111916 14 71445034 [A/C] NM_014982 PCNX EXON Missense_H660Q exm1111923 14 71445114 [A/G] NM_014982 PCNX EXON Missense_R687H exm1111926 14 71445172 [T/G] NM_014982 PCNX EXON Missense_R706S exm1111937 14 71455317 [A/G] NM_014982 PCNX EXON Missense_R782H exm1818745 14 71462641 [A/T] NM_014982 PCNX EXON Synonymous_L876L exm1111968 14 71485769 [A/G] NM_014982 PCNX EXON Missense_I1014V exm1111980 14 71492933 [A/G] NM_014982 PCNX EXON Missense_T1095A exm1111989 14 71495453 [T/C] NM_014982 PCNX EXON Missense_I1168T exm1111997 14 71500680 [T/C] NM_014982 PCNX EXON Missense_T1234M exm1112001 14 71502789 [A/G] NM_014982 PCNX EXON Missense_R1261Q exm1112002 14 71502824 [T/G] NM_014982 PCNX EXON Missense_G1273C exm1112015 14 71514668 [C/G] NM_014982 PCNX EXON Missense_L1435F exm1112016 14 71514681 [A/C] NM_014982 PCNX EXON Missense_M1440L exm1112019 14 71517391 [T/G] NM_014982 PCNX EXON Missense_L1454W exm1112048 14 71542966 [A/G] NM_014982 PCNX EXON Missense_M1723V exm1112052 14 71543075 [A/G] NM_014982 PCNX EXON Missense_R1759K exm1112058 14 71568743 [A/G] NM_014982 PCNX EXON Missense_T1876A exm1112073 14 71572011 [A/C] NM_014982 PCNX EXON Missense_T2052N exm1112089 14 71575584 [A/G] NM_014982 PCNX EXON Missense_G2189S exm1112094 14 71575729 [A/G] NM_014982 PCNX EXON Missense_H2237R exm1112099 14 71576561 [A/C] NM_014982 PCNX EXON Missense_H2312P exm2272107 14 71600208 [T/C] exm-rs221901 14 71602226 [T/C] exm2267720 14 72022891 [A/G] NM_015556 SIPA1L1 Silent exm1112107 14 72054629 [C/G] NM_015556 SIPA1L1 EXON Missense_A14P exm1112111 14 72054708 [A/G] NM_015556 SIPA1L1 EXON Missense_R40Q exm1112115 14 72054755 [A/C] NM_015556 SIPA1L1 EXON Missense_P56T exm1112116 14 72054759 [A/C] NM_015556 SIPA1L1 EXON Missense_P57H exm1112118 14 72054786 [A/C] NM_015556 SIPA1L1 EXON Missense_T66N exm1112126 14 72055017 [T/C] NM_015556 SIPA1L1 EXON Missense_T143I exm1112133 14 72055185 [T/G] NM_015556 SIPA1L1 EXON Missense_G199V exm1112137 14 72055335 [T/C] NM_015556 SIPA1L1 EXON Missense_T249I exm1112143 14 72055399 [G/C] NM_015556 SIPA1L1 EXON Missense_E270D exm1112154 14 72055641 [A/G] NM_015556 SIPA1L1 EXON Missense_H351R exm1112156 14 72055745 [A/G] NM_015556 SIPA1L1 EXON Missense_M386V exm-rs11848785 14 72057355 [A/G] NM_015556 SIPA1L1 Silent exm1112186 14 72125092 [A/G] NM_015556 SIPA1L1 EXON Missense_D679G exm1112199 14 72138056 [A/G] NM_015556 SIPA1L1 EXON Missense_I826V exm2274706 14 72138194 [A/G] NM_015556 SIPA1L1 EXON Missense_M872V exm1112210 14 72138209 [G/C] NM_015556 SIPA1L1 EXON Missense_L877V exm1112211 14 72138225 [A/G] NM_015556 SIPA1L1 EXON Missense_N882S exm1112212 14 72138273 [A/G] NM_015556 SIPA1L1 EXON Missense_N898S exm1818847 14 72138332 [T/C] NM_015556 SIPA1L1 EXON Missense_Y918H exm1818848 14 72138346 [T/A] NM_015556 SIPA1L1 EXON Missense_E922D exm1112219 14 72138367 [T/A] NM_015556 SIPA1L1 EXON Missense_F929L exm1112222 14 72138399 [A/G] NM_015556 SIPA1L1 EXON Missense_K940R exm1112237 14 72152099 [T/G] NM_015556 SIPA1L1 EXON Missense_R1042L exm1112259 14 72165762 [T/C] NM_015556 SIPA1L1 EXON Missense_R1147W exm1112267 14 72169130 [T/C] NM_015556 SIPA1L1 EXON Missense_I1185T exm1112276 14 72171995 [T/C] NM_015556 SIPA1L1 EXON Missense_P1256S exm1818859 14 72176317 [A/G] NM_015556 SIPA1L1 EXON Missense_G1403S exm1112304 14 72176340 [T/G] NM_015556 SIPA1L1 EXON Missense_E1410D exm1112308 14 72190399 [T/G] NM_015556 SIPA1L1 EXON Missense_V1436G exm2272108 14 72348825 [T/C] exm1112351 14 72431524 [A/G] NM_001204423,NM_001204424,NM_001204422,NM_001204417,NM_004296,NM_001204416,NM_001204418,NM_001204421,NM_001204420,NM_001204419 RGS6,RGS6,RGS6,RGS6,RGS6,RGS6,RGS6,RGS6,RGS6,RGS6 EXON Silent,Missense_G6R,Missense_G6R,Missense_G6R,Missense_G6R,Missense_G6R,Missense_G6R,Missense_G6R,Missense_G6R,Missense_G6R exm1112354 14 72431582 [T/C] NM_001204423,NM_001204424,NM_001204422,NM_001204417,NM_004296,NM_001204416,NM_001204418,NM_001204421,NM_001204420,NM_001204419 RGS6,RGS6,RGS6,RGS6,RGS6,RGS6,RGS6,RGS6,RGS6,RGS6 EXON Silent,Missense_V25A,Missense_V25A,Missense_V25A,Missense_V25A,Missense_V25A,Missense_V25A,Missense_V25A,Missense_V25A,Missense_V25A exm2272109 14 72467631 [T/G] NM_001204423,NM_001204424,NM_001204422,NM_001204417,NM_004296,NM_001204416,NM_001204418,NM_001204421,NM_001204420,NM_001204419 RGS6,RGS6,RGS6,RGS6,RGS6,RGS6,RGS6,RGS6,RGS6,RGS6 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm-rs7159300 14 72883874 [A/G] NM_001204423,NM_001204424,NM_001204422,NM_001204417,NM_004296,NM_001204416,NM_001204418,NM_001204421,NM_001204420,NM_001204419 RGS6,RGS6,RGS6,RGS6,RGS6,RGS6,RGS6,RGS6,RGS6,RGS6 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm-rs4140998 14 72895359 [T/C] NM_001204423,NM_001204424,NM_001204422,NM_001204417,NM_004296,NM_001204416,NM_001204418,NM_001204421,NM_001204420,NM_001204419 RGS6,RGS6,RGS6,RGS6,RGS6,RGS6,RGS6,RGS6,RGS6,RGS6 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm1112412 14 72941379 [A/G] NM_001204423,NM_001204424,NM_001204422,NM_001204417,NM_004296,NM_001204416,NM_001204418,NM_001204421,NM_001204420,NM_001204419 RGS6,RGS6,RGS6,RGS6,RGS6,RGS6,RGS6,RGS6,RGS6,RGS6 EXON Missense_R187H,Missense_R222H,Missense_R222H,Missense_R222H,Missense_R222H,Missense_R222H,Missense_R222H,Missense_R222H,Missense_R222H,Missense_R222H exm1112415 14 72943462 [A/G] NM_001204423,NM_001204424,NM_001204422,NM_001204417,NM_004296,NM_001204416,NM_001204418,NM_001204421,NM_001204420,NM_001204419 RGS6,RGS6,RGS6,RGS6,RGS6,RGS6,RGS6,RGS6,RGS6,RGS6 EXON Missense_V201M,Missense_V236M,Missense_V236M,Missense_V236M,Missense_V236M,Missense_V236M,Missense_V236M,Missense_V236M,Missense_V236M,Missense_V236M exm1112429 14 72961945 [A/G] NM_001204423,NM_001204424,NM_001204422,NM_001204417,NM_004296,NM_001204416,NM_001204418,NM_001204421,NM_001204420,NM_001204419 RGS6,RGS6,RGS6,RGS6,RGS6,RGS6,RGS6,RGS6,RGS6,RGS6 EXON Missense_V279I,Missense_V314I,Silent,Missense_V314I,Missense_V314I,Missense_V314I,Missense_V314I,Silent,Silent,Silent exm-rs4903031 14 73019236 [A/G] NM_001204423,NM_001204424,NM_001204422,NM_001204417,NM_004296,NM_001204416,NM_001204418,NM_001204421,NM_001204420,NM_001204419 RGS6,RGS6,RGS6,RGS6,RGS6,RGS6,RGS6,RGS6,RGS6,RGS6 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm2260361 14 73120986 [T/C] exm2251915 14 73132029 [T/C] exm1112469 14 73137882 [A/G] NM_012074 DPF3 EXON Missense_R346W exm1818958 14 73137890 [T/C] NM_012074 DPF3 EXON Missense_R343H exm1112471 14 73137894 [A/G] NM_012074 DPF3 EXON Missense_R342C exm-rs1060570 14 73138189 [A/C] NM_012074 DPF3 Silent exm1112488 14 73181153 [T/G] NM_012074 DPF3 EXON Missense_H194Q exm1112489 14 73181170 [T/C] NM_012074 DPF3 EXON Missense_A189T exm1112491 14 73181173 [T/C] NM_012074 DPF3 EXON Missense_A188T exm1112501 14 73198553 [A/C] NM_012074 DPF3 EXON Missense_V131L exm2251916 14 73220020 [A/G] NM_012074 DPF3 EXON Synonymous_L85L exm1112516 14 73238525 [T/C] NM_012074 DPF3 EXON Missense_V37M exm2272111 14 73355131 [T/C] NM_012074 DPF3 Silent exm1112523 14 73404680 [A/C] NM_181341,NM_001163508,NM_181340,NM_015604,NM_001163509 DCAF4,DCAF4,DCAF4,DCAF4,DCAF4 EXON Silent,Silent,Silent,Silent,Silent exm1112525 14 73404707 [G/C] NM_181341,NM_001163508,NM_181340,NM_015604,NM_001163509 DCAF4,DCAF4,DCAF4,DCAF4,DCAF4 EXON Missense_Q7H,Missense_Q7H,Silent,Missense_Q7H,Silent exm1112528 14 73404752 [G/C] NM_181341,NM_001163508,NM_181340,NM_015604,NM_001163509 DCAF4,DCAF4,DCAF4,DCAF4,DCAF4 EXON Missense_W22C,Missense_W22C,Silent,Missense_W22C,Missense_G11A exm1112529 14 73404770 [T/C] NM_181341,NM_001163508,NM_181340,NM_015604,NM_001163509 DCAF4,DCAF4,DCAF4,DCAF4,DCAF4 EXON Synonymous_S28S,Synonymous_S28S,Silent,Synonymous_S28S,Missense_L17P exm1112534 14 73406518 [T/C] NM_181341,NM_001163508,NM_181340,NM_015604,NM_001163509 DCAF4,DCAF4,DCAF4,DCAF4,DCAF4 EXON Missense_S34F,Missense_S34F,Silent,Missense_S34F,Missense_P23S exm1112535 14 73406520 [T/C] NM_181341,NM_001163508,NM_181340,NM_015604,NM_001163509 DCAF4,DCAF4,DCAF4,DCAF4,DCAF4 EXON Missense_R35W,Missense_R35W,Silent,Missense_R35W,Synonymous_P23P exm1112536 14 73406521 [A/G] NM_181341,NM_001163508,NM_181340,NM_015604,NM_001163509 DCAF4,DCAF4,DCAF4,DCAF4,DCAF4 EXON Missense_R35Q,Missense_R35Q,Silent,Missense_R35Q,Missense_G24R exm1112543 14 73406579 [A/G] NM_181341,NM_001163508,NM_181340,NM_015604,NM_001163509 DCAF4,DCAF4,DCAF4,DCAF4,DCAF4 EXON Synonymous_S54S,Synonymous_S54S,Silent,Synonymous_S54S,Missense_R43H exm1112544 14 73406582 [T/G] NM_181341,NM_001163508,NM_181340,NM_015604,NM_001163509 DCAF4,DCAF4,DCAF4,DCAF4,DCAF4 EXON Synonymous_S55S,Synonymous_S55S,Silent,Synonymous_S55S,Missense_L44R exm1112551 14 73407077 [T/C] NM_181341,NM_001163508,NM_181340,NM_015604,NM_001163509 DCAF4,DCAF4,DCAF4,DCAF4,DCAF4 EXON Missense_R115W,Missense_R115W,Missense_R15W,Missense_R115W,Missense_R93W exm1112571 14 73412626 [A/C] NM_181341,NM_001163508,NM_181340,NM_015604,NM_001163509 DCAF4,DCAF4,DCAF4,DCAF4,DCAF4 EXON Missense_N129T,Missense_N190T,Missense_N90T,Missense_N190T,Missense_N168T exm1112572 14 73412635 [A/C] NM_181341,NM_001163508,NM_181340,NM_015604,NM_001163509 DCAF4,DCAF4,DCAF4,DCAF4,DCAF4 EXON Missense_K132T,Missense_K193T,Missense_K93T,Missense_K193T,Missense_K171T exm1112584 14 73418574 [A/G] NM_181341,NM_001163508,NM_181340,NM_015604,NM_001163509 DCAF4,DCAF4,DCAF4,DCAF4,DCAF4 EXON Missense_N205S,Missense_N266S,Missense_N166S,Missense_N266S,Missense_N244S exm1112589 14 73421103 [A/G] NM_181341,NM_001163508,NM_181340,NM_015604,NM_001163509 DCAF4,DCAF4,DCAF4,DCAF4,DCAF4 EXON Missense_R246Q,Missense_R307Q,Missense_R206Q,Missense_R306Q,Missense_R285Q exm1112593 14 73421150 [A/G] NM_181341,NM_001163508,NM_181340,NM_015604,NM_001163509 DCAF4,DCAF4,DCAF4,DCAF4,DCAF4 EXON Missense_G262R,Missense_G323R,Missense_G222R,Missense_G322R,Missense_G301R exm1112595 14 73421159 [A/G] NM_181341,NM_001163508,NM_181340,NM_015604,NM_001163509 DCAF4,DCAF4,DCAF4,DCAF4,DCAF4 EXON Missense_S265G,Missense_S326G,Missense_S225G,Missense_S325G,Missense_S304G exm1112597 14 73421186 [T/C] NM_181341,NM_001163508,NM_181340,NM_015604,NM_001163509 DCAF4,DCAF4,DCAF4,DCAF4,DCAF4 EXON Missense_L274F,Silent,Missense_L234F,Missense_L334F,Missense_L313F exm1112600 14 73422259 [G/C] NM_181341,NM_001163508,NM_181340,NM_015604,NM_001163509 DCAF4,DCAF4,DCAF4,DCAF4,DCAF4 EXON Missense_S285C,Missense_S339C,Missense_S245C,Missense_S345C,Missense_S324C exm1112602 14 73422285 [T/C] NM_181341,NM_001163508,NM_181340,NM_015604,NM_001163509 DCAF4,DCAF4,DCAF4,DCAF4,DCAF4 EXON Missense_R294C,Missense_R348C,Missense_R254C,Missense_R354C,Missense_R333C exm1112607 14 73423127 [A/G] NM_181341,NM_001163508,NM_181340,NM_015604,NM_001163509 DCAF4,DCAF4,DCAF4,DCAF4,DCAF4 EXON Missense_V345I,Missense_V399I,Missense_V305I,Missense_V405I,Missense_V384I exm1112617 14 73425328 [A/G] NM_181341,NM_001163508,NM_181340,NM_015604,NM_001163509 DCAF4,DCAF4,DCAF4,DCAF4,DCAF4 EXON Missense_D375N,Missense_D429N,Missense_D335N,Missense_D435N,Missense_D414N exm1112634 14 73425478 [A/G] NM_181341,NM_001163508,NM_181340,NM_015604,NM_001163509 DCAF4,DCAF4,DCAF4,DCAF4,DCAF4 EXON Missense_V425I,Missense_V479I,Missense_V385I,Missense_V485I,Missense_V464I exm1112642 14 73437732 [T/C] NM_178441,NM_021260 ZFYVE1,ZFYVE1 EXON Missense_K316R,Missense_K731R exm1112651 14 73440864 [T/C] NM_178441,NM_021260 ZFYVE1,ZFYVE1 EXON Synonymous_T260T,Synonymous_T675T exm2251917 14 73440864 [T/C] NM_178441,NM_021260 ZFYVE1,ZFYVE1 EXON Synonymous_T260T,Synonymous_T675T exm1112662 14 73441613 [A/G] NM_178441,NM_021260 ZFYVE1,ZFYVE1 EXON Nonsense_R206X,Nonsense_R621X exm1112682 14 73444942 [T/C] NM_178441,NM_021260 ZFYVE1,ZFYVE1 EXON Missense_A59T,Missense_A474T exm1112687 14 73448557 [A/G] NM_178441,NM_021260 ZFYVE1,ZFYVE1 EXON Missense_A2V,Missense_A417V exm1112688 14 73448561 [T/C] NM_178441,NM_021260 ZFYVE1,ZFYVE1 EXON Missense_M1V,Missense_M416V exm1112695 14 73459878 [G/C] NM_021260 ZFYVE1 EXON Missense_H392Q exm2222716 14 73459927 [T/C] NM_021260 ZFYVE1 EXON Missense_R376H exm1112698 14 73460009 [A/G] NM_021260 ZFYVE1 EXON Missense_R349C exm1112712 14 73464720 [T/C] NM_021260 ZFYVE1 EXON Missense_V263I exm2251918 14 73465003 [A/G] NM_021260 ZFYVE1 EXON Synonymous_F168F exm1112724 14 73490859 [T/C] NM_021260 ZFYVE1 EXON Missense_V120M exm1112734 14 73491173 [A/C] NM_021260 ZFYVE1 EXON Missense_G15V exm1112736 14 73491189 [T/C] NM_021260 ZFYVE1 EXON Missense_K10E exm2277072 14 73563652 [C/G] NM_021239 RBM25 EXON Missense_D191E exm1112805 14 73577801 [A/G] NM_021239 RBM25 EXON Missense_N652S exm2273519 14 73586532 [T/C] NM_021239 RBM25 EXON Silent exm1112826 14 73637521 [A/G] NM_007318,NM_000021 PSEN1,PSEN1 EXON Missense_R31Q,Missense_R35Q exm1112827 14 73637527 [A/G] NM_007318,NM_000021 PSEN1,PSEN1 EXON Missense_E33G,Missense_E37G exm1112852 14 73664751 [T/G] NM_007318,NM_000021 PSEN1,PSEN1 EXON Missense_V257G,Missense_V261G exm1819108 14 73673157 [A/G] NM_007318,NM_000021 PSEN1,PSEN1 EXON Missense_K307R,Missense_K311R exm1112857 14 73673178 [A/G] NM_007318,NM_000021 PSEN1,PSEN1 EXON Missense_E314G,Missense_E318G exm1112865 14 73678594 [A/G] NM_007318,NM_000021 PSEN1,PSEN1 EXON Missense_R354Q,Missense_R358Q exm1112870 14 73683938 [T/G] NM_007318,NM_000021 PSEN1,PSEN1 EXON Missense_V408L,Missense_V412L exm1112880 14 73711394 [A/G] NM_173462 PAPLN EXON Missense_S33G exm1112911 14 73717720 [A/G] NM_173462 PAPLN EXON Missense_A191T exm1112912 14 73717721 [T/C] NM_173462 PAPLN EXON Missense_A191V exm1112921 14 73718435 [T/C] NM_173462 PAPLN EXON Missense_A218V exm1112949 14 73719407 [A/G] NM_173462 PAPLN EXON Missense_D313N exm1819142 14 73719443 [C/G] NM_173462 PAPLN EXON Missense_R325G exm1112955 14 73719484 [A/G] NM_173462 PAPLN Silent exm1112958 14 73720482 [T/C] NM_173462 PAPLN EXON Missense_A345V exm1112965 14 73720604 [A/C] NM_173462 PAPLN EXON Missense_P386T exm1112967 14 73720650 [A/G] NM_173462 PAPLN EXON Missense_S401N exm1112973 14 73721245 [A/G] NM_173462 PAPLN EXON Missense_V416I exm1112982 14 73721300 [T/C] NM_173462 PAPLN EXON Missense_A434V exm1112987 14 73721360 [G/C] NM_173462 PAPLN EXON Missense_P454R exm1112993 14 73721627 [A/G] NM_173462 PAPLN EXON Missense_I483V exm1112998 14 73721705 [A/C] NM_173462 PAPLN EXON Missense_Q509K exm1113010 14 73726042 [T/C] NM_173462 PAPLN EXON Nonsense_R565X exm1113016 14 73726132 [T/C] NM_173462 PAPLN EXON Missense_R595W exm1113017 14 73726151 [A/G] NM_173462 PAPLN EXON Missense_H601R exm1113024 14 73727448 [A/G] NM_173462 PAPLN EXON Missense_A646T exm1113025 14 73727482 [T/C] NM_173462 PAPLN EXON Missense_S657L exm1113028 14 73727509 [T/G] NM_173462 PAPLN EXON Missense_M666R exm1113029 14 73727518 [T/C] NM_173462 PAPLN EXON Missense_S669L exm1113031 14 73727524 [T/C] NM_173462 PAPLN EXON Missense_A671V exm1113037 14 73727926 [G/C] NM_173462 PAPLN EXON Missense_Q696H exm1113041 14 73727963 [A/G] NM_173462 PAPLN EXON Missense_G709S exm1113043 14 73727979 [A/G] NM_173462 PAPLN EXON Missense_G714D exm1113045 14 73729066 [A/G] NM_173462 PAPLN EXON Missense_V725M exm1113046 14 73729069 [T/C] NM_173462 PAPLN EXON Missense_R726W exm1113047 14 73729070 [A/G] NM_173462 PAPLN EXON Missense_R726Q exm1113048 14 73729102 [A/G] NM_173462 PAPLN EXON Missense_A737T exm1113049 14 73729117 [T/C] NM_173462 PAPLN EXON Missense_R742C exm1113051 14 73729153 [T/C] NM_173462 PAPLN EXON Missense_R754C exm1113052 14 73729154 [A/G] NM_173462 PAPLN EXON Missense_R754H exm1113055 14 73729246 [T/C] NM_173462 PAPLN EXON Missense_R785C exm1113060 14 73729349 [T/C] NM_173462 PAPLN EXON Missense_A819V exm1113062 14 73729369 [A/C] NM_173462 PAPLN EXON Missense_P826T exm1113063 14 73729387 [T/C] NM_173462 PAPLN EXON Missense_R832W exm1113076 14 73730411 [C/G] NM_173462 PAPLN EXON Missense_R901G exm1113078 14 73730439 [T/C] NM_173462 PAPLN EXON Missense_P910L exm1113090 14 73731002 [A/G] NM_173462 PAPLN EXON Missense_R955Q exm1113091 14 73731010 [T/C] NM_173462 PAPLN EXON Missense_R958C exm1113098 14 73731305 [T/C] NM_173462 PAPLN EXON Missense_M972T exm1113099 14 73731310 [A/G] NM_173462 PAPLN EXON Missense_V974M exm1113103 14 73731325 [A/G] NM_173462 PAPLN EXON Missense_E979K exm1113108 14 73731385 [T/G] NM_173462 PAPLN EXON Missense_A999S exm1113111 14 73732103 [T/C] NM_173462 PAPLN EXON Missense_R1024W exm1113126 14 73733285 [A/G] NM_173462 PAPLN EXON Missense_A1087T exm1113128 14 73733303 [T/C] NM_173462 PAPLN EXON Nonsense_R1093X exm1113131 14 73733432 [T/G] NM_173462 PAPLN EXON Synonymous_G1104G exm1113136 14 73735342 [A/G] NM_173462 PAPLN EXON Missense_R1166Q exm1113137 14 73735366 [T/C] NM_173462 PAPLN EXON Missense_T1174M exm1113140 14 73735402 [A/G] NM_173462 PAPLN EXON Missense_R1186H exm1113147 14 73739287 [A/G] NM_173462 PAPLN EXON Missense_Q1224R exm1113149 14 73739337 [T/C] NM_173462 PAPLN EXON Missense_R1241C exm1113152 14 73739361 [T/A] NM_173462 PAPLN EXON Missense_I1249F exm1113171 14 73743458 [T/C] NM_001005743,NM_001005744,NM_003744,NM_001005745 NUMB,NUMB,NUMB,NUMB EXON Missense_G595D,Missense_G547D,Missense_G584D,Missense_G536D exm2222726 14 73743800 [A/G] NM_001005743,NM_001005744,NM_003744,NM_001005745 NUMB,NUMB,NUMB,NUMB EXON Missense_P481L,Missense_P433L,Missense_P470L,Missense_P422L exm1113192 14 73746070 [T/C] NM_001005743,NM_001005744,NM_003744,NM_001005745 NUMB,NUMB,NUMB,NUMB EXON Missense_V387I,Silent,Missense_V376I,Silent exm1113200 14 73749156 [T/C] NM_001005743,NM_001005744,NM_003744,NM_001005745 NUMB,NUMB,NUMB,NUMB EXON Missense_N336S,Missense_N336S,Missense_N325S,Missense_N325S exm-rs10483853 14 73756299 [A/G] NM_001005743,NM_001005744,NM_003744,NM_001005745 NUMB,NUMB,NUMB,NUMB Silent,Silent,Silent,Silent exm1113243 14 73945346 [T/A] NM_001220484,NM_203309 HEATR4,HEATR4 EXON Missense_S1016T,Missense_S1016T exm1113264 14 73957816 [A/C] NM_001220484,NM_203309,NM_024644 HEATR4,HEATR4,C14orf169 EXON Silent,Silent,Missense_L32M exm1113281 14 73958375 [T/C] NM_001220484,NM_203309,NM_024644 HEATR4,HEATR4,C14orf169 EXON Silent,Silent,Missense_F218S exm1113284 14 73958437 [A/G] NM_001220484,NM_203309,NM_024644 HEATR4,HEATR4,C14orf169 EXON Silent,Silent,Missense_R239G exm1113285 14 73958438 [C/G] NM_001220484,NM_203309,NM_024644 HEATR4,HEATR4,C14orf169 EXON Silent,Silent,Missense_R239T exm1113286 14 73958558 [T/C] NM_001220484,NM_203309,NM_024644 HEATR4,HEATR4,C14orf169 EXON Silent,Silent,Missense_A279V exm1113291 14 73958641 [C/G] NM_001220484,NM_203309,NM_024644 HEATR4,HEATR4,C14orf169 EXON Silent,Silent,Missense_L307V exm1113298 14 73958812 [T/C] NM_001220484,NM_203309,NM_024644 HEATR4,HEATR4,C14orf169 EXON Silent,Silent,Missense_S364P exm1113302 14 73958852 [C/G] NM_001220484,NM_203309,NM_024644 HEATR4,HEATR4,C14orf169 EXON Silent,Silent,Nonsense_S377X exm1113303 14 73958867 [T/C] NM_001220484,NM_203309,NM_024644 HEATR4,HEATR4,C14orf169 EXON Silent,Silent,Missense_S382L exm1113309 14 73959215 [T/C] NM_001220484,NM_203309,NM_024644 HEATR4,HEATR4,C14orf169 EXON Silent,Silent,Missense_P498L exm1113311 14 73959293 [T/C] NM_001220484,NM_203309,NM_024644 HEATR4,HEATR4,C14orf169 EXON Silent,Silent,Missense_T524M exm1113312 14 73959308 [G/C] NM_001220484,NM_203309,NM_024644 HEATR4,HEATR4,C14orf169 EXON Silent,Silent,Missense_A529G exm1113319 14 73959506 [A/G] NM_001220484,NM_203309,NM_024644 HEATR4,HEATR4,C14orf169 EXON Silent,Silent,Nonsense_W595X exm1113321 14 73959628 [T/C] NM_001220484,NM_203309,NM_024644 HEATR4,HEATR4,C14orf169 EXON Silent,Silent,Missense_C636R exm1113326 14 73961982 [T/C] NM_001220484,NM_203309 HEATR4,HEATR4 EXON Missense_G912E,Missense_G912E exm1113333 14 73963365 [A/C] NM_001220484,NM_203309 HEATR4,HEATR4 EXON Missense_M855I,Missense_M855I exm1113334 14 73963383 [T/C] NM_001220484,NM_203309 HEATR4,HEATR4 EXON Synonymous_K849K,Synonymous_K849K exm1113337 14 73964893 [T/C] NM_001220484,NM_203309 HEATR4,HEATR4 EXON Missense_V838M,Missense_V838M exm1113341 14 73964964 [T/C] NM_001220484,NM_203309 HEATR4,HEATR4 EXON Missense_R814Q,Missense_R814Q exm1113345 14 73965778 [A/G] NM_001220484,NM_203309 HEATR4,HEATR4 EXON Nonsense_R785X,Nonsense_R785X exm1113348 14 73967265 [A/G] NM_001220484,NM_203309 HEATR4,HEATR4 EXON Missense_R759C,Missense_R759C exm1113357 14 73969624 [T/C] NM_001220484,NM_203309 HEATR4,HEATR4 EXON Missense_G694R,Missense_G694R exm1113361 14 73973169 [A/G] NM_001220484,NM_203309 HEATR4,HEATR4 Silent,Silent exm1113363 14 73973175 [A/C] NM_001220484,NM_203309 HEATR4,HEATR4 EXON Missense_C661F,Missense_C661F exm1113368 14 73973254 [T/C] NM_001220484,NM_203309 HEATR4,HEATR4 EXON Missense_A635T,Missense_A635T exm1113377 14 73976045 [T/C] NM_001220484,NM_203309 HEATR4,HEATR4 EXON Missense_R564Q,Missense_R564Q exm1113382 14 73976156 [A/G] NM_001220484,NM_203309 HEATR4,HEATR4 EXON Missense_P527L,Missense_P527L exm1113383 14 73976175 [T/C] NM_001220484,NM_203309 HEATR4,HEATR4 EXON Missense_K521E,Missense_K521E exm1113385 14 73978736 [T/C] NM_001220484,NM_203309 HEATR4,HEATR4 EXON Missense_R511Q,Missense_R511Q exm1113386 14 73978742 [T/C] NM_001220484,NM_203309 HEATR4,HEATR4 EXON Missense_R509Q,Missense_R509Q exm1113387 14 73978743 [A/G] NM_001220484,NM_203309 HEATR4,HEATR4 EXON Missense_R509W,Missense_R509W exm1113388 14 73978772 [A/C] NM_001220484,NM_203309 HEATR4,HEATR4 EXON Missense_I499S,Missense_I499S exm1819276 14 73978829 [A/G] NM_001220484,NM_203309 HEATR4,HEATR4 EXON Missense_V480A,Missense_V480A exm1113392 14 73978850 [A/G] NM_001220484,NM_203309 HEATR4,HEATR4 EXON Missense_I473T,Missense_I473T exm1819279 14 73980744 [A/G] NM_001220484,NM_203309 HEATR4,HEATR4 EXON Missense_W469R,Missense_W469R exm1113397 14 73980804 [T/C] NM_001220484,NM_203309 HEATR4,HEATR4 EXON Missense_E449K,Missense_E449K exm1113405 14 73985771 [A/G] NM_001220484,NM_203309 HEATR4,HEATR4 EXON Missense_P389L,Missense_P389L exm1113408 14 73985794 [G/C] NM_001220484,NM_203309 HEATR4,HEATR4 EXON Missense_N381K,Missense_N381K exm1113431 14 73989145 [A/G] NM_001220484,NM_203309 HEATR4,HEATR4 EXON Missense_R238C,Missense_R238C exm1113434 14 73989211 [A/G] NM_001220484,NM_203309 HEATR4,HEATR4 EXON Nonsense_R216X,Nonsense_R216X exm1113437 14 73989369 [T/G] NM_001220484,NM_203309 HEATR4,HEATR4 EXON Missense_P163H,Missense_P163H exm1113439 14 73989384 [T/C] NM_001220484,NM_203309 HEATR4,HEATR4 EXON Missense_R158Q,Missense_R158Q exm1113440 14 73989385 [A/G] NM_001220484,NM_203309 HEATR4,HEATR4 EXON Missense_R158W,Missense_R158W exm1113444 14 73989445 [T/A] NM_001220484,NM_203309 HEATR4,HEATR4 EXON Missense_T138S,Missense_T138S exm1113456 14 73989697 [A/G] NM_001220484,NM_203309 HEATR4,HEATR4 EXON Nonsense_Q54X,Nonsense_Q54X exm1113460 14 73989816 [T/C] NM_001220484,NM_203309 HEATR4,HEATR4 EXON Missense_C14Y,Missense_C14Y exm1113514 14 74035960 [T/C] NR_046028,NM_006821 ACOT2,ACOT2 EXON Silent,Missense_L6F exm1113516 14 74036007 [T/G] NR_046028,NM_006821 ACOT2,ACOT2 EXON Silent,Missense_M21I exm2251922 14 74040231 [T/C] NR_046028,NM_006821 ACOT2,ACOT2 EXON Silent,Synonymous_T261T exm1113556 14 74040231 [T/C] NR_046028,NM_006821 ACOT2,ACOT2 EXON Silent,Synonymous_T261T exm1113560 14 74040274 [T/C] NR_046028,NM_006821 ACOT2,ACOT2 EXON Silent,Missense_Y276H exm1113600 14 74060508 [A/C] NM_152331 ACOT4 EXON Missense_A187D exm1113606 14 74060549 [A/G] NM_152331 ACOT4 EXON Missense_D201N exm1113628 14 74062207 [T/C] NM_152331 ACOT4 EXON Missense_A372V exm1113630 14 74062284 [A/G] NM_152331 ACOT4 EXON Missense_A398T exm1113631 14 74062288 [A/G] NM_152331 ACOT4 EXON Nonsense_W399X exm2273520 14 74062370 [A/G] NM_152331 ACOT4 EXON Silent exm2267721 14 74065221 [A/G] exm1113641 14 74085939 [T/A] NM_001037162 ACOT6 EXON Missense_V7E exm1113643 14 74085957 [T/C] NM_001037162 ACOT6 EXON Missense_A13V exm1113645 14 74085981 [T/G] NM_001037162 ACOT6 EXON Missense_G21V exm1113648 14 74086074 [A/G] NM_001037162 ACOT6 EXON Missense_H52R exm1113652 14 74086127 [A/G] NM_001037162 ACOT6 EXON Missense_I70V exm1113654 14 74086281 [G/C] NM_001037162 ACOT6 EXON Missense_A121G exm1113661 14 74086415 [A/G] NM_001037162 ACOT6 EXON Missense_E166K exm1113677 14 74156101 [C/G] NM_001201366,NM_031427 DNAL1,DNAL1 EXON Missense_L100V,Missense_L139V exm1113707 14 74179992 [T/G] NM_006029 PNMA1 EXON Missense_Q117H exm1113710 14 74180116 [T/G] NM_006029 PNMA1 EXON Missense_A76E exm1113736 14 74188007 [T/C] NM_001043318,NM_194278 ELMSAN1,ELMSAN1 EXON Missense_N977S,Missense_N977S exm1113738 14 74188028 [A/G] NM_001043318,NM_194278 ELMSAN1,ELMSAN1 EXON Missense_A970V,Missense_A970V exm1113739 14 74188046 [T/C] NM_001043318,NM_194278 ELMSAN1,ELMSAN1 EXON Missense_R964Q,Missense_R964Q exm1113742 14 74188083 [T/C] NM_001043318,NM_194278 ELMSAN1,ELMSAN1 EXON Missense_K952E,Missense_K952E exm1113745 14 74188164 [T/C] NM_001043318,NM_194278 ELMSAN1,ELMSAN1 EXON Missense_S925G,Missense_S925G exm1113752 14 74189442 [T/C] NM_001043318,NM_194278 ELMSAN1,ELMSAN1 EXON Missense_D895N,Missense_D895N exm1113768 14 74193540 [G/C] NM_001043318,NM_194278 ELMSAN1,ELMSAN1 EXON Missense_Q766H,Missense_Q766H exm1113769 14 74193550 [T/C] NM_001043318,NM_194278 ELMSAN1,ELMSAN1 EXON Missense_R763Q,Missense_R763Q exm1113775 14 74193622 [T/C] NM_001043318,NM_194278 ELMSAN1,ELMSAN1 EXON Missense_R739H,Missense_R739H exm1113784 14 74196645 [T/C] NM_001043318,NM_194278 ELMSAN1,ELMSAN1 EXON Missense_R598Q,Missense_R598Q exm1113785 14 74196649 [T/C] NM_001043318,NM_194278 ELMSAN1,ELMSAN1 EXON Missense_V597M,Missense_V597M exm1113795 14 74203711 [A/G] NM_001043318,NM_194278 ELMSAN1,ELMSAN1 EXON Missense_A580V,Missense_A580V exm1113798 14 74203754 [T/C] NM_001043318,NM_194278 ELMSAN1,ELMSAN1 EXON Missense_I566V,Missense_I566V exm1113799 14 74203789 [A/G] NM_001043318,NM_194278 ELMSAN1,ELMSAN1 EXON Missense_P554L,Missense_P554L exm1113801 14 74203844 [T/C] NM_001043318,NM_194278 ELMSAN1,ELMSAN1 EXON Missense_V536M,Missense_V536M exm1113804 14 74203975 [T/C] NM_001043318,NM_194278 ELMSAN1,ELMSAN1 EXON Missense_R492Q,Missense_R492Q exm1113805 14 74203976 [A/G] NM_001043318,NM_194278 ELMSAN1,ELMSAN1 EXON Missense_R492W,Missense_R492W exm1819435 14 74203983 [T/G] NM_001043318,NM_194278 ELMSAN1,ELMSAN1 EXON Missense_E489D,Missense_E489D exm1113811 14 74205345 [T/C] NM_001043318,NM_194278 ELMSAN1,ELMSAN1 EXON Missense_R456Q,Missense_R456Q exm1113828 14 74205687 [A/G] NM_001043318,NM_194278 ELMSAN1,ELMSAN1 EXON Missense_F342S,Missense_F342S exm1113837 14 74205849 [A/C] NM_001043318,NM_194278 ELMSAN1,ELMSAN1 EXON Missense_F288C,Missense_F288C exm1113856 14 74206228 [T/G] NM_001043318,NM_194278 ELMSAN1,ELMSAN1 EXON Missense_P162T,Missense_P162T exm1113863 14 74206455 [A/G] NM_001043318,NM_194278 ELMSAN1,ELMSAN1 EXON Missense_A86V,Missense_A86V exm1819450 14 74206467 [T/C] NM_001043318,NM_194278 ELMSAN1,ELMSAN1 EXON Missense_R82Q,Missense_R82Q exm1113868 14 74206624 [A/G] NM_001043318,NM_194278 ELMSAN1,ELMSAN1 EXON Missense_P30S,Missense_P30S exm-rs13379043 14 74250126 [T/C] NM_001043318 ELMSAN1 Silent exm2222748 14 74318645 [C/G] NM_001146154,NM_001146155,NM_152444 PTGR2,PTGR2,PTGR2 EXON Silent,Silent,Silent exm2272113 14 74318754 [T/G] NM_001146154,NM_001146155,NM_152444 PTGR2,PTGR2,PTGR2 EXON Silent,Silent,Silent exm1113882 14 74327275 [A/G] NM_001146154,NM_001146155,NM_152444 PTGR2,PTGR2,PTGR2 EXON Missense_R24Q,Missense_R24Q,Missense_R24Q exm1113901 14 74345884 [T/C] NM_001146154,NM_001146155,NM_152444 PTGR2,PTGR2,PTGR2 EXON Missense_F202S,Missense_F202S,Missense_F202S exm1113903 14 74345989 [G/C] NM_001146154,NM_001146155,NM_152444 PTGR2,PTGR2,PTGR2 EXON Missense_S237T,Missense_S237T,Missense_S237T exm1113905 14 74346791 [A/C] NM_001146154,NM_001146155,NM_152444 PTGR2,PTGR2,PTGR2 EXON Missense_Q255K,Missense_Q255K,Missense_Q255K exm1113907 14 74346825 [T/C] NM_001146154,NM_001146155,NM_152444 PTGR2,PTGR2,PTGR2 EXON Missense_P266L,Missense_P266L,Missense_P266L exm1113916 14 74350816 [T/C] NM_001146154,NM_001146155,NM_152444 PTGR2,PTGR2,PTGR2 EXON Missense_S331F,Missense_S331F,Missense_S331F exm2251924 14 74350841 [A/G] NM_001146154,NM_001146155,NM_152444 PTGR2,PTGR2,PTGR2 EXON Synonymous_G339G,Synonymous_G339G,Synonymous_G339G exm2274707 14 74360573 [A/T] NM_001242928,NM_001242924,NM_001242927,NM_021188,NM_001242926,NR_040251 ZNF410,ZNF410,ZNF410,ZNF410,ZNF410,ZNF410 EXON Silent,Missense_I36N,Missense_I36N,Missense_I36N,Missense_I36N,Silent exm1113927 14 74363031 [A/G] NM_001242928,NM_001242924,NM_001242927,NM_021188,NM_001242926,NR_040251 ZNF410,ZNF410,ZNF410,ZNF410,ZNF410,ZNF410 EXON Silent,Missense_N78S,Silent,Missense_N61S,Missense_N61S,Silent exm1113929 14 74363105 [A/G] NM_001242928,NM_001242924,NM_001242927,NM_021188,NM_001242926,NR_040251 ZNF410,ZNF410,ZNF410,ZNF410,ZNF410,ZNF410 EXON Silent,Missense_G103R,Silent,Missense_G86R,Missense_G86R,Silent exm1113930 14 74363139 [T/C] NM_001242928,NM_001242924,NM_001242927,NM_021188,NM_001242926,NR_040251 ZNF410,ZNF410,ZNF410,ZNF410,ZNF410,ZNF410 EXON Silent,Missense_S114F,Silent,Missense_S97F,Missense_S97F,Silent exm1113948 14 74371633 [A/G] NM_001242928,NM_001242924,NM_001242927,NM_021188,NM_001242926,NR_040251 ZNF410,ZNF410,ZNF410,ZNF410,ZNF410,ZNF410 EXON Silent,Missense_E271K,Missense_E181K,Missense_E254K,Missense_E254K,Silent exm1113959 14 74388791 [T/C] NM_001242928,NM_001242924,NM_001242927,NM_021188,NM_001242926,NR_040251 ZNF410,ZNF410,ZNF410,ZNF410,ZNF410,ZNF410 EXON Synonymous_S188S,Synonymous_S401S,Synonymous_S311S,Synonymous_S384S,Silent,Silent exm1113963 14 74388908 [T/C] NM_001242928,NM_001242924,NM_001242927,NM_021188,NM_001242926,NR_040251 ZNF410,ZNF410,ZNF410,ZNF410,ZNF410,ZNF410 EXON Synonymous_D227D,Synonymous_D440D,Synonymous_D350D,Synonymous_D423D,Silent,Silent exm1113965 14 74390214 [A/C] NM_001242928,NM_001242924,NM_001242927,NM_021188,NM_001242926,NR_040251 ZNF410,ZNF410,ZNF410,ZNF410,ZNF410,ZNF410 EXON Missense_N267H,Missense_N480H,Missense_N390H,Missense_N463H,Missense_N416H,Silent exm1113971 14 74401030 [A/G] NM_152445 FAM161B EXON Missense_P688S exm1113972 14 74401038 [A/G] NM_152445 FAM161B EXON Missense_L685P exm1113975 14 74401097 [A/C] NM_152445 FAM161B EXON Missense_R665S exm1113984 14 74402757 [A/G] NM_152445 FAM161B EXON Missense_L630P exm1113995 14 74404756 [T/C] NM_152445 FAM161B EXON Missense_K550R exm1114013 14 74409338 [A/C] NM_152445 FAM161B EXON Missense_S399A exm1114018 14 74409395 [A/G] NM_152445 FAM161B EXON Missense_R380C exm1114020 14 74411125 [T/C] NM_152445 FAM161B EXON Missense_T343A exm1114027 14 74411256 [T/C] NM_152445 FAM161B EXON Missense_R299H exm1114028 14 74411257 [A/G] NM_152445 FAM161B EXON Missense_R299C exm1114031 14 74411314 [A/G] NM_152445 FAM161B EXON Missense_R280W exm1114037 14 74411404 [T/C] NM_152445 FAM161B EXON Missense_E250K exm1114042 14 74411490 [T/C] NM_152445 FAM161B EXON Missense_Q221R exm1114043 14 74411502 [T/C] NM_152445 FAM161B EXON Missense_R217Q exm1114047 14 74411572 [A/G] NM_152445 FAM161B EXON Missense_R194C exm1114053 14 74413037 [T/C] NM_152445 FAM161B EXON Missense_Q172R exm1114055 14 74413107 [A/G] NM_152445 FAM161B EXON Missense_L149F exm1114065 14 74413200 [C/G] NM_152445 FAM161B EXON Missense_E118Q exm2251925 14 74413243 [A/T] NM_152445 FAM161B EXON Synonymous_V103V exm1114069 14 74413296 [T/C] NM_152445 FAM161B EXON Missense_E86K exm1819526 14 74416644 [T/A] NM_152445,NM_182480 FAM161B,COQ6 EXON Silent,Silent exm1114075 14 74416698 [C/G] NM_152445,NM_182480 FAM161B,COQ6 EXON Missense_G74A,Silent exm1114086 14 74417180 [T/G] NM_182480,NM_182476 COQ6,COQ6 EXON Silent,Missense_A49S exm1114089 14 74420147 [T/C] NM_182480,NM_182476 COQ6,COQ6 EXON Missense_I33T,Missense_I58T exm1114091 14 74420178 [T/C] NM_182480,NM_182476 COQ6,COQ6 EXON Synonymous_L43L,Synonymous_L68L exm1114092 14 74420252 [A/G] NM_182480,NM_182476 COQ6,COQ6 EXON Missense_G68D,Missense_G93D exm1114096 14 74422201 [T/C] NM_182480,NM_182476 COQ6,COQ6 EXON Missense_R91W,Missense_R116W exm1114100 14 74422545 [A/G] NM_182480,NM_182476 COQ6,COQ6 EXON Missense_D107G,Missense_D132G exm1114105 14 74422599 [A/G] NM_182480,NM_182476 COQ6,COQ6 EXON Missense_H125R,Missense_H150R exm1114107 14 74424859 [T/C] NM_182480,NM_182476 COQ6,COQ6 EXON Missense_T139M,Missense_T164M exm1114136 14 74427993 [A/G] NM_182480,NM_182476 COQ6,COQ6 EXON Missense_R312G,Missense_R337G exm1114137 14 74428000 [T/A] NM_182480,NM_182476 COQ6,COQ6 EXON Missense_D314V,Missense_D339V exm1114142 14 74428181 [T/C] NM_182480,NM_182476 COQ6,COQ6 EXON Missense_P348L,Missense_P373L exm1114145 14 74428247 [T/C] NM_182480,NM_182476 COQ6,COQ6 EXON Missense_T370M,Missense_T395M exm1114149 14 74428445 [A/G] NM_182480,NM_182476 COQ6,COQ6 EXON Missense_V381M,Missense_V406M exm1114155 14 74428548 [A/C] NM_182480,NM_182476 COQ6,COQ6 EXON Missense_P415Q,Missense_P440Q exm1114157 14 74428566 [T/C] NM_182480,NM_182476 COQ6,COQ6 EXON Missense_T421M,Missense_T446M exm1114167 14 74433689 [A/G] NM_001249 ENTPD5 EXON Missense_T410M exm1114178 14 74439673 [T/C] NM_001249 ENTPD5 EXON Missense_K314R exm1114195 14 74442714 [A/G] NM_001249 ENTPD5 EXON Missense_T216I exm1819577 14 74453517 [T/C] NM_001249 ENTPD5 EXON Synonymous_Q99Q exm1114210 14 74453527 [T/C] NM_001249 ENTPD5 EXON Missense_Q96R exm1114214 14 74454663 [A/G] NM_001249 ENTPD5 EXON Missense_L48S exm1114216 14 74454675 [G/C] NM_001249 ENTPD5 EXON Missense_S44T exm1114217 14 74454681 [T/C] NM_001249 ENTPD5 EXON Missense_N42S exm1114232 14 74489695 [T/G] NM_025057 CCDC176 EXON Missense_V45F exm1114237 14 74489735 [A/G] NM_025057 CCDC176 EXON Missense_R58Q exm1114238 14 74489766 [T/G] NM_025057 CCDC176 EXON Missense_K68N exm1114239 14 74489782 [A/C] NM_025057 CCDC176 EXON Missense_M74L exm1819590 14 74489810 [A/G] NM_025057 CCDC176 EXON Missense_S83N exm1114240 14 74489815 [A/C] NM_025057 CCDC176 EXON Missense_L85M exm1114243 14 74495920 [A/C] NM_025057 CCDC176 EXON Missense_K107Q exm1114245 14 74495952 [A/G] NM_025057 CCDC176 EXON Synonymous_L117L exm1114249 14 74507320 [A/G] NM_025057 CCDC176 EXON Missense_R183K exm1819597 14 74507332 [T/G] NM_025057 CCDC176 EXON Missense_R187I exm2274708 14 74512795 [A/G] NM_025057 CCDC176 EXON Missense_I203M exm1114254 14 74514674 [T/A] NM_025057 CCDC176 EXON Missense_D230V exm1114257 14 74516434 [T/G] NM_025057 CCDC176 EXON Missense_K274N exm1114267 14 74516621 [A/G] NM_025057 CCDC176 EXON Missense_M337V exm1114271 14 74516856 [C/G] NM_025057 CCDC176 EXON Missense_S415T exm1114272 14 74516880 [T/C] NM_025057 CCDC176 EXON Missense_L423P exm1114273 14 74516883 [T/C] NM_025057 CCDC176 EXON Missense_L424P exm1819601 14 74516891 [A/G] NM_025057 CCDC176 EXON Missense_E427K exm1114281 14 74522315 [A/G] NM_025057 CCDC176 EXON Missense_G439R exm1114285 14 74523869 [A/G] NM_025057 CCDC176 EXON Missense_K496E exm1819611 14 74527349 [T/C] NM_025057,NM_005589 CCDC176,ALDH6A1 EXON Silent,Missense_R535H exm2251926 14 74531573 [A/G] NM_025057,NM_005589 CCDC176,ALDH6A1 EXON Silent,Synonymous_T485T exm1114308 14 74533575 [T/C] NM_005589 ALDH6A1 EXON Missense_A353T exm1114318 14 74535660 [A/G] NM_005589 ALDH6A1 EXON Missense_P252L exm1114323 14 74537982 [T/C] NM_005589 ALDH6A1 EXON Missense_G216R exm1114341 14 74539060 [T/C] NM_005589 ALDH6A1 EXON Missense_N65S exm1114343 14 74539275 [A/G] NM_005589 ALDH6A1 EXON Missense_S51P exm1114344 14 74539281 [T/C] NM_005589 ALDH6A1 EXON Missense_V49I exm-rs2239557 14 74551970 [C/G] NM_001024674 LIN52 Silent exm1114379 14 74665673 [A/G] NM_001024674 LIN52 EXON Missense_K115R exm1114390 14 74706563 [A/C] NM_182894 VSX2 EXON Missense_P100Q exm1114392 14 74706572 [T/C] NM_182894 VSX2 EXON Missense_V103A exm1114400 14 74711895 [T/G] NM_182894 VSX2 EXON Missense_E161D exm1114403 14 74711951 [T/C] NM_182894 VSX2 EXON Missense_M180T exm1819655 14 74711991 [A/G] NM_182894 VSX2 EXON Synonymous_Q193Q exm1114420 14 74727395 [A/G] NM_182894 VSX2 EXON Missense_E287K exm1114421 14 74727398 [T/C] NM_182894 VSX2 EXON Missense_R288W exm1114422 14 74727407 [A/G] NM_182894 VSX2 EXON Missense_D291N exm1114425 14 74727452 [A/G] NM_182894 VSX2 EXON Missense_I306V exm1114430 14 74727582 [T/C] NM_182894 VSX2 EXON Missense_A349V exm1114438 14 74753402 [A/G] NR_003256,NM_005050 ABCD4,ABCD4 Silent,Silent exm1114439 14 74753420 [T/C] NR_003256,NM_005050 ABCD4,ABCD4 EXON Silent,Missense_R579Q exm1114443 14 74753468 [T/C] NR_003256,NM_005050 ABCD4,ABCD4 EXON Silent,Missense_Y563C exm1114451 14 74754923 [T/C] NR_003256,NM_005050 ABCD4,ABCD4 EXON Silent,Missense_V516M exm1114457 14 74755427 [T/C] NR_003256,NM_005050 ABCD4,ABCD4 EXON Silent,Missense_A500T exm1114459 14 74755460 [T/C] NR_003256,NM_005050 ABCD4,ABCD4 EXON Silent,Missense_D489N exm1114466 14 74756776 [A/G] NR_003256,NM_005050 ABCD4,ABCD4 EXON Silent,Missense_F458S exm1114468 14 74756993 [T/C] NR_003256,NM_005050 ABCD4,ABCD4 Silent,Silent exm1114469 14 74756996 [T/C] NR_003256,NM_005050 ABCD4,ABCD4 EXON Silent,Missense_R442Q exm2251927 14 74757019 [T/C] NR_003256,NM_005050 ABCD4,ABCD4 EXON Silent,Synonymous_L434L exm1114472 14 74757027 [A/G] NR_003256,NM_005050 ABCD4,ABCD4 EXON Silent,Missense_R432W exm1114474 14 74757185 [A/G] NR_003256,NM_005050 ABCD4,ABCD4 EXON Silent,Missense_A379V exm1114477 14 74759006 [T/C] NR_003256,NM_005050 ABCD4,ABCD4 EXON Silent,Missense_E368K exm1114482 14 74759059 [G/C] NR_003256,NM_005050 ABCD4,ABCD4 EXON Silent,Missense_T350R exm1114483 14 74759065 [T/C] NR_003256,NM_005050 ABCD4,ABCD4 EXON Silent,Missense_R348Q exm1114484 14 74759066 [A/G] NR_003256,NM_005050 ABCD4,ABCD4 EXON Silent,Missense_R348W exm1114500 14 74759919 [T/C] NR_003256,NM_005050 ABCD4,ABCD4 EXON Silent,Missense_R251H exm1114501 14 74759920 [A/G] NR_003256,NM_005050 ABCD4,ABCD4 EXON Silent,Missense_R251C exm1114515 14 74762660 [T/C] NR_003256,NM_005050 ABCD4,ABCD4 EXON Silent,Missense_S189G exm1114519 14 74763064 [T/C] NR_003256,NM_005050 ABCD4,ABCD4 EXON Silent,Missense_V172I exm1114520 14 74763067 [A/G] NR_003256,NM_005050 ABCD4,ABCD4 EXON Silent,Missense_L171F exm1114521 14 74763081 [A/G] NR_003256,NM_005050 ABCD4,ABCD4 EXON Silent,Missense_I166T exm1114527 14 74763145 [A/G] NR_003256,NM_005050 ABCD4,ABCD4 EXON Silent,Missense_R145C exm1114533 14 74764652 [A/G] NR_003256,NM_005050 ABCD4,ABCD4 EXON Silent,Missense_R136W exm1114535 14 74764675 [A/G] NR_003256,NM_005050 ABCD4,ABCD4 EXON Silent,Missense_A128V exm1114546 14 74766360 [T/C] NR_003256,NM_005050 ABCD4,ABCD4 EXON Silent,Missense_Q59R exm1114548 14 74766869 [G/C] NR_003256,NM_005050 ABCD4,ABCD4 EXON Silent,Missense_L47F exm1114568 14 74823643 [T/C] NM_018228 VRTN EXON Missense_L53F exm1114570 14 74823689 [A/C] NM_018228 VRTN EXON Missense_E68A exm1114572 14 74823701 [A/G] NM_018228 VRTN EXON Missense_R72Q exm1114575 14 74823778 [A/G] NM_018228 VRTN EXON Missense_A98T exm2251928 14 74823882 [T/C] NM_018228 VRTN EXON Synonymous_A132A exm1114593 14 74824126 [A/G] NM_018228 VRTN EXON Missense_V214M exm1114594 14 74824129 [T/C] NM_018228 VRTN EXON Missense_P215S exm1114602 14 74824243 [A/G] NM_018228 VRTN EXON Missense_G253S exm1114606 14 74824304 [T/C] NM_018228 VRTN EXON Missense_L273P exm1114609 14 74824348 [T/C] NM_018228 VRTN EXON Missense_R288C exm1114615 14 74824411 [A/G] NM_018228 VRTN EXON Missense_K309E exm1114619 14 74824517 [A/G] NM_018228 VRTN EXON Missense_R344H exm1114627 14 74824664 [T/C] NM_018228 VRTN EXON Missense_A393V exm1114639 14 74824956 [A/C] NM_018228 VRTN EXON Missense_D490E exm1114645 14 74825014 [G/C] NM_018228 VRTN EXON Missense_R510G exm1114648 14 74825080 [T/C] NM_018228 VRTN EXON Missense_R532C exm1114651 14 74825188 [T/G] NM_018228 VRTN EXON Missense_G568W exm1114655 14 74825336 [C/G] NM_018228 VRTN EXON Missense_G617A exm1114657 14 74825384 [T/C] NM_018228 VRTN EXON Missense_A633V exm1114690 14 74874623 [T/C] NM_001105579 SYNDIG1L EXON Missense_G163R exm1114693 14 74874646 [A/G] NM_001105579 SYNDIG1L EXON Missense_T155M exm1114708 14 74876300 [T/C] NM_001105579 SYNDIG1L EXON Missense_G50R exm2222760 14 74876312 [T/C] NM_001105579 SYNDIG1L EXON Missense_A46T exm1114713 14 74876363 [A/G] NM_001105579 SYNDIG1L EXON Missense_P29S exm2251929 14 74891005 [A/G] NM_001105579 SYNDIG1L Silent exm1114725 14 74947404 [T/C] NM_006432 NPC2 Silent exm1114727 14 74951189 [T/G] NM_006432 NPC2 EXON Missense_N98H exm1114730 14 74951210 [T/C] NM_006432 NPC2 EXON Missense_D91N exm1114732 14 74951269 [T/C] NM_006432 NPC2 EXON Missense_K71R exm1114736 14 74953134 [T/C] NM_006432 NPC2 EXON Missense_V30M exm1114740 14 74959940 [A/G] NM_006432 NPC2 EXON Missense_L13P exm1114761 14 74967636 [A/G] NM_000428 LTBP2 EXON Missense_P1806L exm1114763 14 74967651 [T/C] NM_000428 LTBP2 EXON Missense_R1801H exm1114768 14 74967716 [T/A] NM_000428 LTBP2 EXON Missense_D1779E exm1114778 14 74969371 [T/C] NM_000428 LTBP2 EXON Missense_V1719M exm1114782 14 74969470 [T/C] NM_000428 LTBP2 EXON Missense_V1686I exm1114785 14 74969562 [T/C] NM_000428 LTBP2 EXON Missense_Y1655C exm1114786 14 74969572 [A/G] NM_000428 LTBP2 EXON Missense_R1652W exm1114804 14 74970172 [C/G] NM_000428 LTBP2 EXON Missense_E1574Q exm1114815 14 74970271 [T/C] NM_000428 LTBP2 EXON Missense_E1541K exm1114823 14 74970695 [T/C] NM_000428 LTBP2 EXON Missense_V1506M exm1114833 14 74971731 [T/C] NM_000428 LTBP2 EXON Missense_A1442T exm1114834 14 74971769 [T/C] NM_000428 LTBP2 EXON Missense_R1429Q exm1114835 14 74971770 [A/G] NM_000428 LTBP2 EXON Missense_R1429W exm1819789 14 74971838 [A/G] NM_000428 LTBP2 EXON Missense_P1406L exm1114843 14 74971854 [T/C] NM_000428 LTBP2 EXON Missense_T1401A exm1114849 14 74972790 [C/G] NM_000428 LTBP2 EXON Missense_D1380H exm1114854 14 74972856 [A/C] NM_000428 LTBP2 EXON Missense_A1358S exm1114858 14 74973443 [T/C] NM_000428 LTBP2 EXON Missense_D1331N exm1114867 14 74973926 [A/C] NM_000428 LTBP2 EXON Missense_G1288V exm1114869 14 74973938 [T/C] NM_000428 LTBP2 EXON Missense_R1284H exm1114877 14 74975337 [T/C] NM_000428 LTBP2 EXON Missense_V1208I exm1114879 14 74975348 [A/G] NM_000428 LTBP2 EXON Missense_A1204V exm1114903 14 74976452 [T/C] NM_000428 LTBP2 EXON Missense_G1088S exm1114907 14 74976521 [A/G] NM_000428 LTBP2 EXON Missense_L1065F exm1114915 14 74976898 [A/G] NM_000428 LTBP2 EXON Missense_T1016I exm1114920 14 74978010 [C/G] NM_000428 LTBP2 EXON Missense_P989R exm1114924 14 74978052 [T/C] NM_000428 LTBP2 EXON Missense_R975H exm1114936 14 74988631 [A/G] NM_000428 LTBP2 EXON Missense_A924V exm1114937 14 74988644 [T/C] NM_000428 LTBP2 EXON Missense_A920T exm1114943 14 74988734 [T/C] NM_000428 LTBP2 EXON Missense_E890K exm1114944 14 74989495 [T/G] NM_000428 LTBP2 EXON Missense_T886K exm-rs862034 14 74990746 [A/G] NM_000428 LTBP2 Silent exm1114968 14 74995228 [T/C] NM_000428 LTBP2 EXON Missense_V776I exm1114972 14 74995314 [T/C] NM_000428 LTBP2 EXON Missense_E747G exm1114984 14 74999138 [A/G] NM_000428 LTBP2 EXON Missense_R660C exm1114985 14 74999146 [A/G] NM_000428 LTBP2 EXON Missense_S657L exm1114994 14 75002697 [A/G] NM_000428 LTBP2 EXON Missense_P599L exm1115001 14 75017795 [T/C] NM_000428 LTBP2 EXON Missense_R553Q exm1115003 14 75017841 [A/G] NM_000428 LTBP2 EXON Missense_R538W exm1115005 14 75017858 [T/C] NM_000428 LTBP2 EXON Missense_R532Q exm1115020 14 75018980 [T/C] NM_000428 LTBP2 EXON Missense_E437K exm1115022 14 75018994 [A/G] NM_000428 LTBP2 EXON Missense_P432L exm1115029 14 75019047 [A/G] NM_000428 LTBP2 EXON Synonymous_D414D exm1115041 14 75019753 [A/G] NM_000428 LTBP2 EXON Missense_T345M exm1115044 14 75022240 [A/C] NM_000428 LTBP2 EXON Missense_Q329H exm1115046 14 75022271 [T/G] NM_000428 LTBP2 EXON Missense_P319Q exm1115047 14 75022277 [A/G] NM_000428 LTBP2 EXON Missense_P317L exm1115055 14 75022332 [A/G] NM_000428 LTBP2 EXON Nonsense_R299X exm2260364 14 75045389 [A/G] NM_000428 LTBP2 Silent exm1115057 14 75052569 [A/G] NM_000428 LTBP2 EXON Missense_S273L exm1115060 14 75052587 [A/G] NM_000428 LTBP2 EXON Missense_S267L exm1115063 14 75052602 [A/G] NM_000428 LTBP2 EXON Missense_P262L exm1115069 14 75052732 [T/C] NM_000428 LTBP2 EXON Missense_E219K exm1115074 14 75052813 [T/C] NM_000428 LTBP2 EXON Missense_E192K exm1115075 14 75070338 [A/G] NM_000428 LTBP2 EXON Missense_P189S exm1115084 14 75078428 [C/G] NM_000428 LTBP2 EXON Missense_E74Q exm1115087 14 75078538 [A/C] NM_000428 LTBP2 EXON Missense_R37M exm1115090 14 75130443 [C/G] NM_001039479 KIAA0317 EXON Missense_E818Q exm1115125 14 75136805 [T/C] NM_001039479 KIAA0317 EXON Missense_A545T exm2251931 14 75139567 [A/G] NM_001039479 KIAA0317 EXON Synonymous_T463T exm1115134 14 75139613 [T/C] NM_001039479 KIAA0317 EXON Missense_R448Q exm1115137 14 75139801 [A/G] NM_001039479 KIAA0317 EXON Missense_R427C exm1115152 14 75142605 [T/C] NM_001039479 KIAA0317 EXON Missense_V293M exm1819924 14 75142909 [T/C] NM_001039479 KIAA0317 EXON Missense_H256R exm1115164 14 75143386 [A/G] NM_001039479 KIAA0317 EXON Missense_P184L exm1115170 14 75150125 [G/C] NM_001039479 KIAA0317 EXON Missense_Q119E exm1115178 14 75151252 [T/C] NM_001039479 KIAA0317 EXON Missense_V50M exm1115182 14 75151287 [T/C] NM_001039479 KIAA0317 EXON Missense_R38H exm1115199 14 75181627 [A/G] NM_015962 FCF1 EXON Missense_A42T exm1115209 14 75189999 [T/C] NM_015962 FCF1 EXON Missense_V106A exm1115210 14 75190002 [T/C] NM_015962 FCF1 EXON Missense_M107T exm1115216 14 75200854 [A/G] NM_015962 FCF1 EXON Missense_M177V exm1115243 14 75230643 [T/C] NM_019589 YLPM1 EXON Missense_P151S exm1115257 14 75230953 [T/C] NM_019589 YLPM1 EXON Missense_P254L exm1115265 14 75245262 [A/C] NM_019589 YLPM1 EXON Missense_P329Q exm1115274 14 75248101 [A/T] NM_019589 YLPM1 EXON Missense_Y452F exm1115284 14 75248388 [T/C] NM_019589 YLPM1 EXON Missense_P548S exm1115288 14 75248440 [T/C] NM_019589 YLPM1 EXON Missense_M565T exm1115290 14 75248502 [A/G] NM_019589 YLPM1 EXON Missense_G586R exm1115301 14 75248652 [G/C] NM_019589 YLPM1 EXON Missense_P636A exm1115310 14 75248868 [C/G] NM_019589 YLPM1 EXON Missense_A708P exm1115326 14 75264762 [A/C] NM_019589 YLPM1 EXON Missense_P921H exm1115333 14 75264891 [G/C] NM_019589 YLPM1 EXON Missense_G964A exm1115336 14 75264981 [A/C] NM_019589 YLPM1 EXON Missense_N994T exm1115346 14 75265343 [T/C] NM_019589 YLPM1 EXON Missense_R1115W exm1115357 14 75265622 [A/G] NM_019589 YLPM1 EXON Missense_G1208S exm1115360 14 75265703 [C/G] NM_019589 YLPM1 EXON Missense_Q1235E exm1115370 14 75265835 [A/G] NM_019589 YLPM1 EXON Missense_N1279D exm1115379 14 75266151 [A/G] NM_019589 YLPM1 EXON Missense_R1384Q exm1115381 14 75266198 [T/C] NM_019589 YLPM1 EXON Missense_R1400W exm1115388 14 75266352 [A/G] NM_019589 YLPM1 EXON Missense_R1451K exm1115390 14 75269259 [A/G] NM_019589 YLPM1 EXON Synonymous_R1467R exm1115407 14 75276479 [G/C] NM_019589 YLPM1 EXON Missense_V1640L exm1115419 14 75277056 [T/C] NM_019589 YLPM1 EXON Missense_R1721W exm1115452 14 75321843 [T/G] NM_001243007,NM_001080408 PROX2,PROX2 EXON Missense_P591T,Missense_P364T exm-rs8014204 14 75322794 [A/G] NM_001243007,NM_001080408 PROX2,PROX2 Silent,Silent exm1115466 14 75323698 [A/G] NM_001243007,NM_001080408 PROX2,PROX2 EXON Missense_F472L,Missense_F245L exm2251933 14 75329818 [T/C] NM_001243007,NM_001080408 PROX2,PROX2 EXON Synonymous_S240S,Synonymous_S240S exm1115497 14 75329891 [A/G] NM_001243007,NM_001080408 PROX2,PROX2 EXON Missense_P216L,Missense_P216L exm1820036 14 75329973 [T/C] NM_001243007,NM_001080408 PROX2,PROX2 EXON Missense_D189N,Missense_D189N exm1115509 14 75330158 [T/C] NM_001243007,NM_001080408 PROX2,PROX2 EXON Missense_K127R,Missense_K127R exm1115516 14 75330302 [A/G] NM_001243007,NM_001080408 PROX2,PROX2 EXON Missense_P79L,Missense_P79L exm1115517 14 75330306 [A/G] NM_001243007,NM_001080408 PROX2,PROX2 EXON Missense_S78P,Missense_S78P exm1115518 14 75330314 [A/G] NM_001243007,NM_001080408 PROX2,PROX2 EXON Missense_M75T,Missense_M75T exm1115526 14 75330435 [T/C] NM_001243007,NM_001080408 PROX2,PROX2 EXON Missense_D35N,Missense_D35N exm1115527 14 75330462 [T/C] NM_001243007,NM_001080408 PROX2,PROX2 EXON Missense_E26K,Missense_E26K exm2251934 14 75347585 [A/C] exm1115544 14 75352290 [A/G] NM_001244883,NM_001933,NR_045209,NR_033814 DLST,DLST,DLST,DLST EXON Synonymous_G33G,Synonymous_G33G,Silent,Silent exm1115548 14 75352336 [A/G] NM_001244883,NM_001933,NR_045209,NR_033814 DLST,DLST,DLST,DLST EXON Missense_V49I,Missense_V49I,Silent,Silent exm1115563 14 75357868 [A/G] NM_001244883,NM_001933,NR_045209,NR_033814 DLST,DLST,DLST,DLST EXON Missense_G147D,Missense_G147D,Silent,Silent exm1115571 14 75360066 [T/C] NM_001933,NR_045209,NR_033814 DLST,DLST,DLST EXON Missense_P204L,Silent,Silent exm1115572 14 75360084 [T/C] NM_001933,NR_045209,NR_033814 DLST,DLST,DLST EXON Missense_L210P,Silent,Silent exm1115581 14 75366635 [A/G] NM_001933,NR_045209,NR_033814 DLST,DLST,DLST EXON Missense_D304G,Silent,Silent exm1115620 14 75375560 [A/G] NM_031464 RPS6KL1 EXON Missense_T479M exm1115623 14 75375611 [A/G] NM_031464 RPS6KL1 EXON Missense_T462M exm1115635 14 75376311 [A/G] NM_031464 RPS6KL1 EXON Missense_A402V exm1115645 14 75376542 [T/C] NM_031464 RPS6KL1 EXON Missense_H325R exm1115646 14 75376594 [T/C] NM_031464 RPS6KL1 EXON Missense_A308T exm1115649 14 75376687 [T/C] NM_031464 RPS6KL1 EXON Missense_A277T exm1115654 14 75376770 [A/G] NM_031464 RPS6KL1 EXON Missense_M249T exm1115657 14 75376810 [A/G] NM_031464 RPS6KL1 EXON Nonsense_R236X exm1115659 14 75376818 [A/G] NM_031464 RPS6KL1 EXON Missense_A233V exm1115669 14 75378517 [T/C] NM_031464 RPS6KL1 EXON Missense_G171R exm1115675 14 75386576 [A/G] NM_031464 RPS6KL1 EXON Missense_P121L exm1115683 14 75388001 [T/C] NM_031464 RPS6KL1 EXON Missense_V82M exm1115690 14 75388072 [T/C] NM_031464 RPS6KL1 EXON Missense_R58Q exm1115698 14 75388208 [T/C] NM_031464 RPS6KL1 EXON Missense_G13S exm1115724 14 75415226 [T/C] NM_002632,NM_001207012 PGF,PGF EXON Missense_V126I,Missense_V126I exm1115730 14 75415262 [A/G] NM_002632,NM_001207012 PGF,PGF EXON Missense_R114W,Missense_R114W exm1115747 14 75416199 [A/C] NM_002632,NM_001207012 PGF,PGF EXON Missense_V59G,Missense_V59G exm1115751 14 75416256 [A/G] NM_002632,NM_001207012 PGF,PGF EXON Missense_V40A,Missense_V40A exm1115769 14 75470349 [T/C] NM_014239 EIF2B2 EXON Missense_A127V exm1115782 14 75472570 [T/G] NM_014239 EIF2B2 EXON Missense_G200V exm1115788 14 75472635 [A/G] NM_014239 EIF2B2 EXON Missense_I222V exm1115799 14 75475817 [A/G] NM_014239 EIF2B2 EXON Missense_I328V exm2251935 14 75475834 [T/A] NM_014239 EIF2B2 EXON Synonymous_P333P exm1115805 14 75483796 [T/C] NM_014381,NM_001040108 MLH3,MLH3 EXON Missense_E1427K,Missense_E1451K exm1115815 14 75485594 [T/C] NM_014381,NM_001040108 MLH3,MLH3 EXON Missense_A1370T,Missense_A1394T exm1115837 14 75498852 [A/G] NM_014381,NM_001040108 MLH3,MLH3 EXON Missense_S1225F,Missense_S1249F exm1115848 14 75506621 [G/C] NM_014381,NM_001040108 MLH3,MLH3 EXON Nonsense_S1188X,Nonsense_S1188X exm1115851 14 75506696 [T/C] NM_014381,NM_001040108 MLH3,MLH3 EXON Missense_G1163D,Missense_G1163D exm1115852 14 75506718 [T/C] NM_014381,NM_001040108 MLH3,MLH3 EXON Missense_V1156I,Missense_V1156I exm1115854 14 75508343 [T/A] NM_014381,NM_001040108 MLH3,MLH3 EXON Missense_N1147I,Missense_N1147I exm1115857 14 75509094 [A/G] NM_014381,NM_001040108 MLH3,MLH3 EXON Nonsense_Q1123X,Nonsense_Q1123X exm1115860 14 75509117 [T/C] NM_014381,NM_001040108 MLH3,MLH3 EXON Missense_R1115Q,Missense_R1115Q exm1115863 14 75509146 [T/G] NM_014381,NM_001040108 MLH3,MLH3 EXON Missense_D1105E,Missense_D1105E exm1115869 14 75513142 [T/C] NM_014381,NM_001040108 MLH3,MLH3 EXON Missense_D1073N,Missense_D1073N exm1115877 14 75513256 [T/C] NM_014381,NM_001040108 MLH3,MLH3 EXON Missense_E1035K,Missense_E1035K exm1115880 14 75513435 [T/C] NM_014381,NM_001040108 MLH3,MLH3 EXON Missense_N975S,Missense_N975S exm1115883 14 75513448 [T/C] NM_014381,NM_001040108 MLH3,MLH3 EXON Missense_V971I,Missense_V971I exm1115884 14 75513463 [A/G] NM_014381,NM_001040108 MLH3,MLH3 EXON Missense_S966P,Missense_S966P exm1115889 14 75513534 [A/G] NM_014381,NM_001040108 MLH3,MLH3 EXON Missense_T942I,Missense_T942I exm1115895 14 75513689 [T/C] NM_014381,NM_001040108 MLH3,MLH3 EXON Missense_M890I,Missense_M890I exm1115897 14 75513721 [C/G] NM_014381,NM_001040108 MLH3,MLH3 EXON Missense_L880V,Missense_L880V exm1115902 14 75513826 [T/C] NM_014381,NM_001040108 MLH3,MLH3 EXON Missense_S845G,Missense_S845G exm1115903 14 75513828 [A/G] NM_014381,NM_001040108 MLH3,MLH3 EXON Missense_P844L,Missense_P844L exm1115904 14 75513869 [A/C] NM_014381,NM_001040108 MLH3,MLH3 EXON Missense_F830L,Missense_F830L exm1115905 14 75513883 [T/C] NM_014381,NM_001040108 MLH3,MLH3 EXON Missense_N826D,Missense_N826D exm1115906 14 75513910 [T/C] NM_014381,NM_001040108 MLH3,MLH3 EXON Missense_S817G,Missense_S817G exm1115909 14 75513934 [T/C] NM_014381,NM_001040108 MLH3,MLH3 EXON Missense_M809V,Missense_M809V exm1115910 14 75513969 [T/C] NM_014381,NM_001040108 MLH3,MLH3 EXON Missense_R797H,Missense_R797H exm1115916 14 75514138 [A/C] NM_014381,NM_001040108 MLH3,MLH3 EXON Missense_V741F,Missense_V741F exm1115917 14 75514179 [T/C] NM_014381,NM_001040108 MLH3,MLH3 EXON Missense_S727N,Missense_S727N exm1115919 14 75514192 [T/C] NM_014381,NM_001040108 MLH3,MLH3 EXON Missense_V723I,Missense_V723I exm1115920 14 75514200 [T/C] NM_014381,NM_001040108 MLH3,MLH3 EXON Missense_Y720C,Missense_Y720C exm1115929 14 75514420 [A/G] NM_014381,NM_001040108 MLH3,MLH3 EXON Missense_R647C,Missense_R647C exm2251936 14 75514460 [A/G] NM_014381,NM_001040108 MLH3,MLH3 EXON Synonymous_P633P,Synonymous_P633P exm1115932 14 75514489 [C/G] NM_014381,NM_001040108 MLH3,MLH3 EXON Missense_E624Q,Missense_E624Q exm1115935 14 75514560 [T/C] NM_014381,NM_001040108 MLH3,MLH3 EXON Missense_R600Q,Missense_R600Q exm1115938 14 75514722 [A/C] NM_014381,NM_001040108 MLH3,MLH3 EXON Missense_R546I,Missense_R546I exm1115954 14 75515125 [T/C] NM_014381,NM_001040108 MLH3,MLH3 EXON Missense_K412E,Missense_K412E exm1115955 14 75515191 [T/A] NM_014381,NM_001040108 MLH3,MLH3 EXON Missense_F390I,Missense_F390I exm1115957 14 75515206 [C/G] NM_014381,NM_001040108 MLH3,MLH3 EXON Missense_D385H,Missense_D385H exm1115965 14 75515457 [A/T] NM_014381,NM_001040108 MLH3,MLH3 EXON Missense_E301V,Missense_E301V exm1115973 14 75515646 [T/G] NM_014381,NM_001040108 MLH3,MLH3 EXON Missense_Y238S,Missense_Y238S exm1115974 14 75515668 [T/G] NM_014381,NM_001040108 MLH3,MLH3 EXON Missense_K231Q,Missense_K231Q exm2222783 14 75515875 [T/C] NM_014381,NM_001040108 MLH3,MLH3 EXON Missense_M162V,Missense_M162V exm1115986 14 75515965 [T/C] NM_014381,NM_001040108 MLH3,MLH3 EXON Missense_A132T,Missense_A132T exm1115987 14 75516000 [A/G] NM_014381,NM_001040108 MLH3,MLH3 EXON Missense_F120S,Missense_F120S exm1116000 14 75516351 [T/C] NM_014381,NM_001040108 MLH3,MLH3 EXON Missense_K3R,Missense_K3R exm1116014 14 75530246 [T/C] NM_203488,NM_001107 ACYP1,ACYP1 EXON Missense_G4E,Missense_G4E exm1820257 14 75537322 [A/G] NM_001042430,NM_024643 ZC2HC1C,ZC2HC1C EXON Missense_M16V,Missense_M16V exm1116019 14 75537335 [A/T] NM_001042430,NM_024643 ZC2HC1C,ZC2HC1C EXON Missense_N20I,Missense_N20I exm1116020 14 75537346 [C/G] NM_001042430,NM_024643 ZC2HC1C,ZC2HC1C EXON Missense_A24P,Missense_A24P exm1116022 14 75537349 [C/G] NM_001042430,NM_024643 ZC2HC1C,ZC2HC1C EXON Missense_P25A,Missense_P25A exm1820258 14 75537429 [G/C] NM_001042430,NM_024643 ZC2HC1C,ZC2HC1C EXON Missense_N51K,Missense_N51K exm1116032 14 75537568 [A/G] NM_001042430,NM_024643 ZC2HC1C,ZC2HC1C EXON Missense_S98G,Missense_S98G exm1820260 14 75537605 [C/G] NM_001042430,NM_024643 ZC2HC1C,ZC2HC1C EXON Missense_S110W,Missense_S110W exm1116036 14 75537668 [A/T] NM_001042430,NM_024643 ZC2HC1C,ZC2HC1C EXON Missense_K131I,Missense_K131I exm1820261 14 75537787 [A/G] NM_001042430,NM_024643 ZC2HC1C,ZC2HC1C EXON Missense_R171G,Missense_R171G exm1116051 14 75538198 [T/C] NM_001042430,NM_024643 ZC2HC1C,ZC2HC1C EXON Silent,Missense_R308W exm1116052 14 75538217 [T/G] NM_001042430,NM_024643 ZC2HC1C,ZC2HC1C EXON Silent,Missense_G314V exm1116053 14 75538261 [A/G] NM_001042430,NM_024643 ZC2HC1C,ZC2HC1C EXON Silent,Missense_E329K exm1116060 14 75538366 [A/T] NM_001042430,NM_024643 ZC2HC1C,ZC2HC1C EXON Silent,Missense_S364T exm1116063 14 75538382 [T/G] NM_001042430,NM_024643 ZC2HC1C,ZC2HC1C EXON Silent,Missense_S369I exm1116074 14 75551321 [T/G] NM_033116 NEK9 EXON Missense_L962F exm1116081 14 75553765 [T/C] NM_033116 NEK9 EXON Missense_T925A exm1116087 14 75553926 [T/C] NM_033116 NEK9 EXON Missense_R871Q exm1116091 14 75555305 [T/G] NM_033116 NEK9 EXON Missense_P828T exm1116093 14 75557975 [T/C] NM_033116 NEK9 EXON Missense_K814E exm1116097 14 75558051 [T/C] NM_033116 NEK9 EXON Missense_M788I exm1116098 14 75558058 [T/C] NM_033116 NEK9 EXON Missense_R786Q exm1116103 14 75558152 [T/C] NM_033116 NEK9 EXON Missense_G755S exm1116104 14 75558163 [A/G] NM_033116 NEK9 EXON Missense_P751L exm1116106 14 75562076 [A/G] NM_033116 NEK9 EXON Synonymous_T744T exm1116107 14 75563805 [A/G] NM_033116 NEK9 EXON Missense_V724A exm1116117 14 75567806 [T/C] NM_033116 NEK9 EXON Missense_V631I exm1116119 14 75568358 [A/G] NM_033116 NEK9 Silent exm1116121 14 75568393 [A/C] NM_033116 NEK9 EXON Missense_A603S exm1116126 14 75573203 [A/G] NM_033116 NEK9 Silent exm1116135 14 75574047 [A/G] NM_033116 NEK9 EXON Synonymous_T442T exm1116137 14 75574087 [T/C] NM_033116 NEK9 EXON Missense_R429H exm1116159 14 75580048 [T/C] NM_033116 NEK9 EXON Missense_R311H exm1116171 14 75583942 [T/C] NM_033116 NEK9 EXON Missense_V240I exm2251938 14 75590822 [A/G] NM_033116 NEK9 EXON Synonymous_H108H exm1116196 14 75593566 [T/C] NM_033116 NEK9 EXON Missense_S20N exm-rs910316 14 75626042 [A/C] NM_006827 TMED10 Silent exm1116206 14 75643107 [T/C] NM_006827 TMED10 EXON Missense_E59G exm1116207 14 75643108 [C/G] NM_006827 TMED10 EXON Missense_E59Q exm1116232 14 75746805 [A/G] NM_005252 FOS EXON Missense_I123V exm2277073 14 75747512 [A/G] NM_005252 FOS EXON Synonymous_K176K exm1116246 14 75747681 [C/G] NM_005252 FOS EXON Missense_P233A exm1116254 14 75747843 [T/C] NM_005252 FOS EXON Missense_R287C exm2272114 14 75758122 [T/C] exm1116268 14 75904615 [A/C] NM_001135047,NM_001135048,NM_130469,NM_001135049 JDP2,JDP2,JDP2,JDP2 EXON Silent,Silent,Silent,Missense_P9T exm1116270 14 75904660 [A/G] NM_001135047,NM_001135048,NM_130469,NM_001135049 JDP2,JDP2,JDP2,JDP2 EXON Missense_T13A,Missense_T13A,Missense_T13A,Missense_T24A exm1116281 14 75928232 [A/G] NM_001135047,NM_001135048,NM_130469,NM_001135049 JDP2,JDP2,JDP2,JDP2 EXON Missense_R102Q,Missense_R102Q,Missense_R102Q,Missense_R113Q exm1116286 14 75936126 [A/G] NM_001135047,NM_001135048,NM_130469,NM_001135049 JDP2,JDP2,JDP2,JDP2 EXON Missense_K147R,Missense_K147R,Missense_K147R,Missense_K158R exm1116291 14 75936167 [A/G] NM_001135047,NM_001135048,NM_130469,NM_001135049 JDP2,JDP2,JDP2,JDP2 EXON Missense_E161K,Missense_E161K,Missense_E161K,Missense_E172K exm-rs7155603 14 75960536 [A/G] exm1116310 14 76045362 [T/C] NM_017791 FLVCR2 EXON Missense_V16A exm1116311 14 76045418 [A/G] NM_017791 FLVCR2 EXON Missense_V35I exm1116317 14 76045601 [A/G] NM_017791 FLVCR2 EXON Missense_M96V exm1116319 14 76045679 [A/G] NM_017791 FLVCR2 EXON Missense_A122T exm1116323 14 76045766 [T/C] NM_017791 FLVCR2 EXON Missense_R151C exm2272183 14 76062806 [T/G] NM_017791 FLVCR2 Silent exm1116332 14 76088479 [T/C] NM_017791,NM_001195283 FLVCR2,FLVCR2 EXON Missense_R243W,Missense_R38W exm1116337 14 76090978 [T/C] NM_017791,NM_001195283 FLVCR2,FLVCR2 EXON Missense_P279S,Missense_P74S exm2222791 14 76107338 [T/G] NM_017791,NM_001195283 FLVCR2,FLVCR2 EXON Missense_A426S,Missense_A221S exm1116361 14 76107624 [A/G] NM_017791,NM_001195283 FLVCR2,FLVCR2 EXON Missense_A481T,Missense_A276T exm1820467 14 76129532 [T/C] NM_015072 TTLL5 EXON Missense_S14P exm1116387 14 76135776 [T/C] NM_015072 TTLL5 EXON Missense_M31T exm1116396 14 76149902 [A/G] NM_015072 TTLL5 EXON Missense_S92G exm1116406 14 76156609 [T/C] NM_015072 TTLL5 EXON Missense_A149V exm1116411 14 76156653 [A/G] NM_015072 TTLL5 EXON Missense_A164T exm1116415 14 76165549 [A/G] NM_015072 TTLL5 EXON Missense_R174Q exm1116422 14 76173384 [G/C] NM_015072 TTLL5 EXON Missense_E203D exm1116426 14 76173980 [A/G] NM_015072 TTLL5 EXON Missense_V224M exm1116437 14 76184287 [A/G] NM_015072 TTLL5 EXON Missense_K275R exm1116446 14 76186168 [T/C] NM_015072 TTLL5 EXON Synonymous_T311T exm1116450 14 76187017 [T/C] NM_015072 TTLL5 EXON Missense_T338I exm1116453 14 76198698 [A/G] NM_015072 TTLL5 EXON Missense_V354M exm1116455 14 76200366 [A/G] NM_015072 TTLL5 EXON Missense_M387V exm2222797 14 76201620 [A/C] NM_015072 TTLL5 EXON Missense_F423L exm1116469 14 76211439 [A/G] NM_015072 TTLL5 EXON Missense_R428H exm1116470 14 76211466 [T/C] NM_015072 TTLL5 EXON Missense_A437V exm1116472 14 76211483 [A/G] NM_015072 TTLL5 EXON Missense_V443M exm1116478 14 76219268 [A/G] NM_015072 TTLL5 EXON Missense_Y507C exm1116484 14 76231034 [A/G] NM_015072 TTLL5 EXON Missense_E543K exm1116491 14 76232470 [A/G] NM_015072 TTLL5 EXON Missense_A592T exm1116492 14 76232477 [A/G] NM_015072 TTLL5 EXON Missense_D594G exm1116493 14 76232486 [A/G] NM_015072 TTLL5 EXON Missense_D597G exm1116495 14 76232593 [A/G] NM_015072 TTLL5 EXON Missense_N633D exm1116497 14 76232608 [T/C] NM_015072 TTLL5 EXON Missense_R638C exm1116501 14 76238090 [T/C] NM_015072 TTLL5 EXON Nonsense_R677X exm1116512 14 76241840 [A/G] NM_015072 TTLL5 EXON Missense_R717H exm1116522 14 76248850 [A/G] NM_015072 TTLL5 EXON Missense_E846K exm1116531 14 76249524 [A/C] NM_015072 TTLL5 EXON Missense_L879F exm2251941 14 76249692 [A/G] NM_015072 TTLL5 EXON Synonymous_L935L exm1116535 14 76249702 [A/G] NM_015072 TTLL5 EXON Missense_V939I exm1116540 14 76249759 [A/G] NM_015072 TTLL5 EXON Missense_T958A exm1116542 14 76249772 [A/G] NM_015072 TTLL5 EXON Missense_R962H exm1116543 14 76249778 [A/G] NM_015072 TTLL5 EXON Missense_R964Q exm1116547 14 76249837 [A/T] NM_015072 TTLL5 EXON Missense_S984C exm1116548 14 76249852 [T/C] NM_015072 TTLL5 EXON Missense_R989C exm1116551 14 76259340 [A/G] NM_015072 TTLL5 EXON Missense_R1023Q exm1116569 14 76330078 [A/G] NM_015072 TTLL5 EXON Missense_G1132E exm1116570 14 76330102 [A/G] NM_015072 TTLL5 EXON Missense_H1140R exm1116571 14 76330108 [T/C] NM_015072 TTLL5 EXON Missense_T1142I exm1116572 14 76330120 [A/G] NM_015072 TTLL5 EXON Missense_Y1146C exm1116585 14 76349147 [A/T] NM_015072 TTLL5 EXON Missense_K1214N exm1116588 14 76349172 [T/G] NM_015072 TTLL5 EXON Missense_A1223S exm1116589 14 76349196 [T/C] NM_015072 TTLL5 EXON Missense_P1231S exm1116596 14 76368496 [T/C] NM_015072 TTLL5 EXON Missense_A1251V exm1116599 14 76368504 [T/C] NM_015072 TTLL5 EXON Nonsense_Q1254X exm1116602 14 76368544 [T/C] NM_015072 TTLL5 EXON Missense_F1267S exm1116603 14 76368547 [T/C] NM_015072 TTLL5 EXON Missense_V1268A exm1116632 14 76438002 [A/C] NM_003239 TGFB3 EXON Missense_S138A exm1116634 14 76438060 [A/G] NM_003239 TGFB3 EXON Synonymous_N118N exm1116637 14 76446944 [A/G] NM_003239 TGFB3 EXON Missense_S98L exm1116641 14 76447044 [T/C] NM_003239 TGFB3 EXON Missense_V65I exm1116642 14 76447058 [A/G] NM_003239 TGFB3 EXON Missense_T60M exm1116644 14 76447073 [T/C] NM_003239 TGFB3 EXON Missense_S55N exm1116654 14 76452145 [G/C] NM_001255995,NM_001102564,NM_052873,NR_045665,NR_045664 IFT43,IFT43,IFT43,IFT43,IFT43 EXON Missense_D6H,Missense_D6H,Missense_D6H,Silent,Silent exm1116660 14 76455265 [T/C] NM_001255995,NM_001102564,NM_052873,NR_045665,NR_045664 IFT43,IFT43,IFT43,IFT43,IFT43 EXON Missense_A31V,Missense_A31V,Missense_A31V,Silent,Silent exm1116661 14 76455273 [A/G] NM_001255995,NM_001102564,NM_052873,NR_045665,NR_045664 IFT43,IFT43,IFT43,IFT43,IFT43 EXON Missense_E34K,Missense_E34K,Missense_E34K,Silent,Silent exm1116672 14 76525675 [A/G] NM_001102564,NM_052873,NR_045665,NR_045664 IFT43,IFT43,IFT43,IFT43 EXON Missense_R85H,Silent,Silent,Silent exm1820600 14 76542977 [A/G] NM_001102564,NM_052873,NR_045665,NR_045664 IFT43,IFT43,IFT43,IFT43 EXON Silent,Missense_A85T,Silent,Silent exm1116677 14 76543004 [A/G] NM_001102564,NM_052873,NR_045665,NR_045664 IFT43,IFT43,IFT43,IFT43 EXON Silent,Missense_D94N,Silent,Silent exm1116678 14 76543036 [T/C] NM_001102564,NM_052873,NR_045665,NR_045664 IFT43,IFT43,IFT43,IFT43 Silent,Silent,Silent,Silent exm1116683 14 76548707 [T/C] NM_001102564,NM_052873,NR_045665,NR_045664 IFT43,IFT43,IFT43,IFT43 EXON Missense_P122L,Missense_P127L,Silent,Silent exm1116685 14 76548974 [A/G] NM_001102564,NM_052873,NR_045665,NR_045664 IFT43,IFT43,IFT43,IFT43 EXON Missense_R128Q,Missense_R133Q,Silent,Silent exm1116694 14 76549876 [T/C] NM_001102564,NM_052873,NR_045665,NR_045664 IFT43,IFT43,IFT43,IFT43 EXON Nonsense_Q195X,Nonsense_Q200X,Silent,Silent exm-rs935334 14 76613678 [T/C] exm1116702 14 76620980 [A/G] NM_017926,NM_017972 GPATCH2L,GPATCH2L EXON Missense_M92V,Missense_M92V exm1116725 14 76638261 [A/G] NM_017926,NM_017972 GPATCH2L,GPATCH2L EXON Missense_K268R,Missense_K268R exm2277074 14 76644266 [A/C] NM_017926,NM_017972 GPATCH2L,GPATCH2L EXON Silent,Synonymous_R362R exm1116740 14 76644341 [A/G] NM_017926,NM_017972 GPATCH2L,GPATCH2L EXON Missense_A355T,Silent exm2251942 14 76644382 [T/C] NM_017926,NM_017972 GPATCH2L,GPATCH2L EXON Synonymous_H368H,Silent exm-rs2121070 14 76650764 [T/C] NM_017926,NM_017972 GPATCH2L,GPATCH2L Silent,Silent exm1116758 14 76668141 [A/G] NM_017926,NM_017972 GPATCH2L,GPATCH2L EXON Missense_T466A,Missense_T461A exm-rs2360997 14 76812491 [G/C] exm1116762 14 76905712 [A/G] NM_004452 ESRRB EXON Missense_R6G exm1116770 14 76905839 [T/C] NM_004452 ESRRB EXON Missense_A48V exm1116786 14 76948407 [A/G] NM_004452 ESRRB EXON Missense_R188Q exm1116803 14 76957888 [A/G] NM_004452 ESRRB EXON Missense_D296N exm1116805 14 76957891 [A/G] NM_004452 ESRRB EXON Missense_D297N exm1116809 14 76957966 [T/C] NM_004452 ESRRB EXON Missense_R322W exm1116810 14 76957967 [A/G] NM_004452 ESRRB EXON Missense_R322Q exm1116819 14 76964655 [T/C] NM_004452 ESRRB EXON Missense_P386S exm1116820 14 76964665 [T/C] NM_004452 ESRRB EXON Missense_T389M exm1116823 14 76964736 [A/G] NM_004452 ESRRB EXON Missense_V413I exm1116829 14 76966275 [T/C] NM_004452 ESRRB EXON Missense_F456L exm1116831 14 76966318 [T/C] NM_004452 ESRRB EXON Missense_P470L exm2251944 14 77141290 [A/C] exm1116871 14 77236328 [T/C] NM_014909 VASH1 EXON Missense_T111M exm1116879 14 77239480 [A/G] NM_014909 VASH1 EXON Synonymous_G152G exm1116896 14 77244303 [T/C] NM_014909 VASH1 EXON Missense_I305T exm1116913 14 77255665 [A/G] NM_015305 ANGEL1 EXON Missense_I640T exm1116917 14 77257046 [T/C] NM_015305 ANGEL1 EXON Missense_R587H exm1116918 14 77257047 [A/G] NM_015305 ANGEL1 EXON Missense_R587C exm1116930 14 77269788 [A/C] NM_015305 ANGEL1 EXON Missense_F515C exm1116931 14 77269803 [T/C] NM_015305 ANGEL1 EXON Missense_D510G exm1116942 14 77272847 [A/C] NM_015305 ANGEL1 EXON Missense_C431F exm1116947 14 77273025 [G/C] NM_015305 ANGEL1 EXON Missense_P372A exm1116952 14 77273115 [A/G] NM_015305 ANGEL1 EXON Missense_R342C exm1116954 14 77273775 [T/C] NM_015305 ANGEL1 Silent exm1116957 14 77273801 [G/C] NM_015305 ANGEL1 EXON Missense_Q307H exm1820729 14 77274292 [T/C] NM_015305 ANGEL1 EXON Missense_M283I exm1116969 14 77275423 [T/C] NM_015305 ANGEL1 EXON Missense_A210T exm1116979 14 77275630 [A/C] NM_015305 ANGEL1 EXON Missense_G141W exm1116981 14 77275702 [A/G] NM_015305 ANGEL1 EXON Missense_L117F exm1116983 14 77275810 [C/G] NM_015305 ANGEL1 EXON Missense_L81V exm1116986 14 77275857 [T/C] NM_015305 ANGEL1 EXON Missense_R65Q exm1116993 14 77275969 [A/G] NM_015305 ANGEL1 EXON Nonsense_R28X exm1116994 14 77275980 [A/G] NM_015305 ANGEL1 EXON Missense_F24S exm2222805 14 77275983 [A/G] NM_015305 ANGEL1 EXON Missense_A23V exm1117004 14 77294654 [G/C] NM_194287 C14orf166B EXON Missense_V37L exm1117005 14 77294703 [T/C] NM_194287 C14orf166B EXON Missense_P53L exm1117006 14 77294729 [T/C] NM_194287 C14orf166B EXON Missense_R62W exm1117012 14 77297641 [A/G] NM_194287 C14orf166B EXON Missense_M105V exm1117013 14 77297656 [A/G] NM_194287 C14orf166B EXON Missense_V110M exm1117014 14 77297671 [T/C] NM_194287 C14orf166B EXON Missense_H115Y exm1117023 14 77310814 [T/C] NM_194287 C14orf166B EXON Missense_S215L exm1117033 14 77318791 [T/C] NM_194287 C14orf166B EXON Missense_R271W exm1117038 14 77319640 [T/C] NM_194287 C14orf166B EXON Nonsense_R299X exm1117044 14 77319688 [A/G] NM_194287 C14orf166B EXON Missense_G315S exm1117050 14 77323818 [T/C] NM_194287 C14orf166B EXON Synonymous_S368S exm1117051 14 77327051 [A/G] NM_194287 C14orf166B EXON Missense_E374K exm1117052 14 77327061 [A/T] NM_194287 C14orf166B EXON Missense_M377K exm1117063 14 77332408 [T/C] NM_194287 C14orf166B EXON Missense_V450A exm1117070 14 77333756 [C/G] NM_194287 C14orf166B EXON Missense_E473Q exm1117071 14 77333759 [A/G] NM_194287 C14orf166B EXON Missense_K474E exm1117072 14 77333782 [A/G] NM_194287 C14orf166B Silent exm2260367 14 77353103 [A/G] exm1117084 14 77491837 [G/C] NM_024496 IRF2BPL EXON Missense_V767L exm1117089 14 77491933 [A/T] NM_024496 IRF2BPL EXON Missense_S735C exm1117090 14 77491945 [A/G] NM_024496 IRF2BPL EXON Missense_P731S exm1117137 14 77493169 [T/C] NM_024496 IRF2BPL EXON Missense_V323M exm1117140 14 77493183 [A/G] NM_024496 IRF2BPL EXON Missense_S318L exm1117141 14 77493189 [A/G] NM_024496 IRF2BPL EXON Missense_T316I exm1117207 14 77576242 [T/C] NM_033426 KIAA1737 EXON Missense_P75L exm1117209 14 77576271 [A/G] NM_033426 KIAA1737 EXON Missense_A85T exm1117211 14 77576320 [A/G] NM_033426 KIAA1737 EXON Missense_K101R exm1117222 14 77580068 [A/G] NM_033426 KIAA1737 EXON Missense_T203A exm1117236 14 77580335 [C/G] NM_033426 KIAA1737 EXON Missense_P292A exm1117248 14 77580603 [G/C] NM_033426 KIAA1737 EXON Missense_P381R exm1117253 14 77600065 [C/G] NM_174976 ZDHHC22 EXON Missense_F251L exm1117264 14 77605834 [G/C] NM_174976 ZDHHC22 EXON Missense_S83W exm1117276 14 77685241 [A/G] NM_020431 TMEM63C EXON Missense_V29I exm1117295 14 77697969 [A/G] NM_020431 TMEM63C EXON Missense_R130H exm1820848 14 77699824 [A/G] NM_020431 TMEM63C EXON Missense_I175V exm1820856 14 77705755 [T/C] NM_020431 TMEM63C EXON Synonymous_H242H exm1117316 14 77705950 [T/C] NM_020431 TMEM63C EXON Missense_H271Y exm1117324 14 77706888 [A/G] NM_020431 TMEM63C EXON Missense_R334H exm1117348 14 77710773 [A/G] NM_020431 TMEM63C EXON Missense_A475T exm1117356 14 77714805 [T/C] NM_020431 TMEM63C EXON Missense_R573C exm1117364 14 77715723 [A/G] NM_020431 TMEM63C EXON Missense_M654V exm1820901 14 77718182 [A/G] NM_020431 TMEM63C EXON Missense_M697V exm2251946 14 77718232 [T/C] NM_020431 TMEM63C EXON Synonymous_A713A exm1117382 14 77722963 [T/C] NM_020431 TMEM63C EXON Missense_P772L exm1117387 14 77723043 [A/C] NM_020431 TMEM63C EXON Missense_L799M exm1117397 14 77732923 [T/C] NM_021257 NGB EXON Missense_G138R exm1820915 14 77735581 [C/G] NM_021257 NGB EXON Missense_E60Q exm2274710 14 77735593 [G/C] NM_021257 NGB EXON Missense_L56V exm1117411 14 77735596 [A/G] NM_021257 NGB EXON Missense_C55R exm1117422 14 77744798 [T/G] NM_013382 POMT2 EXON Missense_P696T exm1117423 14 77744801 [T/A] NM_013382 POMT2 EXON Missense_W695R exm1117426 14 77745107 [T/C] NM_013382 POMT2 EXON Missense_Y666C exm1117436 14 77745201 [T/C] NM_013382 POMT2 EXON Missense_V635I exm1117450 14 77746364 [T/C] NM_013382 POMT2 EXON Synonymous_P595P exm1117452 14 77746417 [A/G] NM_013382 POMT2 EXON Missense_R578C exm1117455 14 77746769 [A/G] NM_013382 POMT2 EXON Missense_T564M exm2272116 14 77750057 [T/G] NM_013382 POMT2 Silent exm1117465 14 77751317 [T/C] NM_013382 POMT2 EXON Missense_V518M exm1117467 14 77751332 [T/C] NM_013382 POMT2 EXON Missense_N513D exm1117477 14 77753157 [T/C] NM_013382 POMT2 EXON Missense_R421Q exm1117481 14 77755163 [A/G] NM_013382 POMT2 EXON Missense_P399S exm1117494 14 77762578 [A/G] NM_013382 POMT2 EXON Missense_R349W exm1117502 14 77765877 [A/G] NM_013382 POMT2 EXON Missense_R282C exm1117509 14 77769182 [T/C] NM_013382 POMT2 EXON Missense_D218N exm1117510 14 77769185 [T/C] NM_013382 POMT2 EXON Missense_A217T exm1117522 14 77786793 [C/G] NM_013382 POMT2 EXON Missense_E78Q exm1117523 14 77786796 [T/C] NM_013382 POMT2 EXON Missense_D77N exm1117524 14 77786811 [A/G] NM_013382 POMT2 EXON Missense_R72C exm2251947 14 77786863 [A/C] NM_013382 POMT2 EXON Synonymous_A54A exm1117529 14 77786864 [T/G] NM_013382 POMT2 EXON Missense_A54E exm1117541 14 77787706 [C/G] NM_145871,NM_145870,NM_001513 GSTZ1,GSTZ1,GSTZ1 EXON Silent,Silent,Silent exm1117547 14 77791212 [T/G] NM_145871,NM_145870,NM_001513 GSTZ1,GSTZ1,GSTZ1 Silent,Silent,Silent exm1117549 14 77793207 [A/G] NM_145871,NM_145870,NM_001513 GSTZ1,GSTZ1,GSTZ1 EXON Missense_E32K,Missense_E32K,Silent exm1117553 14 77793237 [A/G] NM_145871,NM_145870,NM_001513 GSTZ1,GSTZ1,GSTZ1 EXON Missense_G42R,Missense_G42R,Silent exm1117556 14 77793819 [C/G] NM_145871,NM_145870,NM_001513 GSTZ1,GSTZ1,GSTZ1 EXON Missense_S47C,Missense_S47C,Silent exm1117569 14 77794283 [T/C] NM_145871,NM_145870,NM_001513 GSTZ1,GSTZ1,GSTZ1 EXON Silent,Missense_M82T,Missense_M27T exm1117575 14 77794333 [A/G] NM_145871,NM_145870,NM_001513 GSTZ1,GSTZ1,GSTZ1 EXON Silent,Missense_V99M,Missense_V44M exm1117582 14 77795518 [A/G] NM_145871,NM_145870,NM_001513 GSTZ1,GSTZ1,GSTZ1 EXON Missense_Q90R,Missense_Q132R,Missense_Q77R exm1117583 14 77795520 [A/C] NM_145871,NM_145870,NM_001513 GSTZ1,GSTZ1,GSTZ1 EXON Missense_N91H,Missense_N133H,Missense_N78H exm1820986 14 77795522 [A/C] NM_145871,NM_145870,NM_001513 GSTZ1,GSTZ1,GSTZ1 EXON Missense_N91K,Missense_N133K,Missense_N78K exm1117584 14 77795523 [A/G] NM_145871,NM_145870,NM_001513 GSTZ1,GSTZ1,GSTZ1 EXON Missense_A92T,Missense_A134T,Missense_A79T exm1117593 14 77797452 [A/G] NM_145871,NM_145870,NM_001513 GSTZ1,GSTZ1,GSTZ1 EXON Missense_I147V,Missense_I189V,Missense_I134V exm1117596 14 77797471 [T/C] NM_145871,NM_145870,NM_001513 GSTZ1,GSTZ1,GSTZ1 EXON Missense_V153A,Missense_V195A,Missense_V140A exm1117599 14 77797537 [A/G] NM_145871,NM_145870,NM_001513 GSTZ1,GSTZ1,GSTZ1 EXON Missense_X175W,Missense_X217W,Missense_X162W exm1117621 14 77810133 [T/C] NM_213601 TMED8 EXON Missense_D121N exm1117640 14 77843814 [T/C] NM_001010860 SAMD15 EXON Missense_L18P exm1117643 14 77843880 [T/C] NM_001010860 SAMD15 EXON Missense_M40T exm1117647 14 77843959 [C/G] NM_001010860 SAMD15 EXON Missense_E66D exm1117662 14 77844216 [A/T] NM_001010860 SAMD15 EXON Missense_E152V exm1117666 14 77844265 [A/G] NM_001010860 SAMD15 EXON Missense_M168I exm1117672 14 77844416 [A/G] NM_001010860 SAMD15 EXON Missense_E219K exm1117676 14 77844572 [A/C] NM_001010860 SAMD15 EXON Missense_K271Q exm1117683 14 77844681 [A/G] NM_001010860 SAMD15 EXON Missense_R307Q exm1117687 14 77844818 [T/C] NM_001010860 SAMD15 EXON Missense_S353P exm1117689 14 77844869 [A/G] NM_001010860 SAMD15 EXON Missense_K370E exm1117691 14 77844938 [A/G] NM_001010860 SAMD15 EXON Missense_E393K exm1117697 14 77845121 [A/G] NM_001010860 SAMD15 EXON Missense_K454E exm1117698 14 77845145 [T/A] NM_001010860 SAMD15 EXON Missense_L462I exm1117700 14 77845176 [T/C] NM_001010860 SAMD15 EXON Missense_I472T exm1117713 14 77845379 [A/T] NM_001010860 SAMD15 EXON Missense_F540I exm1821019 14 77845442 [T/C] NM_001010860 SAMD15 EXON Nonsense_Q561X exm1117720 14 77857361 [A/G] NM_001010860 SAMD15 EXON Missense_R600Q exm1117722 14 77857375 [T/C] NM_001010860 SAMD15 EXON Missense_L605F exm1117751 14 77873878 [T/C] NM_001113475 NOXRED1 EXON Missense_V154I exm1117753 14 77873920 [T/G] NM_001113475 NOXRED1 EXON Missense_I140L exm1117786 14 77894714 [A/G] NM_001193316,NM_001193314,NM_022067,NM_001193317,NM_001193315 VIPAS39,VIPAS39,VIPAS39,VIPAS39,VIPAS39 EXON Missense_S438L,Missense_S487L,Missense_S487L,Missense_S487L,Missense_S487L exm1117787 14 77894719 [T/G] NM_001193316,NM_001193314,NM_022067,NM_001193317,NM_001193315 VIPAS39,VIPAS39,VIPAS39,VIPAS39,VIPAS39 EXON Missense_S436R,Missense_S485R,Missense_S485R,Missense_S485R,Missense_S485R exm1821045 14 77894724 [A/G] NM_001193316,NM_001193314,NM_022067,NM_001193317,NM_001193315 VIPAS39,VIPAS39,VIPAS39,VIPAS39,VIPAS39 EXON Missense_L435F,Missense_L484F,Missense_L484F,Missense_L484F,Missense_L484F exm1117790 14 77894811 [A/G] NM_001193316,NM_001193314,NM_022067,NM_001193317,NM_001193315 VIPAS39,VIPAS39,VIPAS39,VIPAS39,VIPAS39 EXON Missense_R406W,Missense_R455W,Missense_R455W,Missense_R455W,Missense_R455W exm1117795 14 77895398 [A/G] NM_001193316,NM_001193314,NM_022067,NM_001193317,NM_001193315 VIPAS39,VIPAS39,VIPAS39,VIPAS39,VIPAS39 EXON Missense_T387M,Missense_T436M,Missense_T436M,Missense_T436M,Missense_T436M exm1117797 14 77895437 [A/C] NM_001193316,NM_001193314,NM_022067,NM_001193317,NM_001193315 VIPAS39,VIPAS39,VIPAS39,VIPAS39,VIPAS39 EXON Missense_I374R,Missense_I423R,Missense_I423R,Missense_I423R,Missense_I423R exm1117806 14 77900613 [T/C] NM_001193316,NM_001193314,NM_022067,NM_001193317,NM_001193315 VIPAS39,VIPAS39,VIPAS39,VIPAS39,VIPAS39 EXON Missense_T312A,Missense_T361A,Missense_T361A,Missense_T361A,Missense_T361A exm1117808 14 77900628 [T/C] NM_001193316,NM_001193314,NM_022067,NM_001193317,NM_001193315 VIPAS39,VIPAS39,VIPAS39,VIPAS39,VIPAS39 EXON Missense_V307I,Missense_V356I,Missense_V356I,Missense_V356I,Missense_V356I exm1117821 14 77902257 [C/G] NM_001193316,NM_001193314,NM_022067,NM_001193317,NM_001193315 VIPAS39,VIPAS39,VIPAS39,VIPAS39,VIPAS39 EXON Missense_P232R,Missense_P281R,Missense_P281R,Missense_P281R,Missense_P281R exm1117828 14 77907410 [A/G] NM_001193316,NM_001193314,NM_022067,NM_001193317,NM_001193315 VIPAS39,VIPAS39,VIPAS39,VIPAS39,VIPAS39 EXON Missense_A205V,Missense_A254V,Missense_A254V,Missense_A254V,Missense_A254V exm1117841 14 77914853 [T/C] NM_001193316,NM_001193314,NM_022067,NM_001193317,NM_001193315 VIPAS39,VIPAS39,VIPAS39,VIPAS39,VIPAS39 EXON Missense_R114H,Missense_R163H,Missense_R163H,Missense_R163H,Missense_R163H exm1117843 14 77914857 [A/G] NM_001193316,NM_001193314,NM_022067,NM_001193317,NM_001193315 VIPAS39,VIPAS39,VIPAS39,VIPAS39,VIPAS39 EXON Nonsense_R113X,Nonsense_R162X,Nonsense_R162X,Nonsense_R162X,Nonsense_R162X exm1117847 14 77914887 [T/C] NM_001193316,NM_001193314,NM_022067,NM_001193317,NM_001193315 VIPAS39,VIPAS39,VIPAS39,VIPAS39,VIPAS39 EXON Missense_S103G,Missense_S152G,Missense_S152G,Missense_S152G,Missense_S152G exm1821077 14 77917639 [A/G] NM_001193316,NM_001193314,NM_022067,NM_001193317,NM_001193315 VIPAS39,VIPAS39,VIPAS39,VIPAS39,VIPAS39 EXON Silent,Synonymous_S78S,Synonymous_S78S,Synonymous_S78S,Synonymous_S78S exm1117862 14 77919654 [T/C] NM_001193316,NM_001193314,NM_022067,NM_001193317,NM_001193315 VIPAS39,VIPAS39,VIPAS39,VIPAS39,VIPAS39 EXON Missense_E62K,Missense_E62K,Missense_E62K,Missense_E62K,Missense_E62K exm1117868 14 77919702 [T/C] NM_001193316,NM_001193314,NM_022067,NM_001193317,NM_001193315 VIPAS39,VIPAS39,VIPAS39,VIPAS39,VIPAS39 EXON Missense_V46M,Missense_V46M,Missense_V46M,Missense_V46M,Missense_V46M exm1117888 14 77929028 [T/C] NM_012111 AHSA1 EXON Missense_V133A exm1117906 14 77934504 [A/G] NM_012111 AHSA1 EXON Missense_V257I exm1117915 14 77935582 [A/G] NM_012111 AHSA1 EXON Missense_R336H exm1117941 14 77942225 [A/G] NM_199296,NM_182509 ISM2,ISM2 EXON Missense_R477C,Silent exm1117943 14 77942264 [A/G] NM_199296,NM_182509 ISM2,ISM2 EXON Missense_R464C,Silent exm1117953 14 77942425 [T/C] NM_199296,NM_182509 ISM2,ISM2 EXON Missense_C410Y,Silent exm1117958 14 77944601 [T/C] NM_199296,NM_182509 ISM2,ISM2 EXON Synonymous_T394T,Missense_R279Q exm1821117 14 77944602 [A/G] NM_199296,NM_182509 ISM2,ISM2 EXON Missense_T394M,Missense_R279W exm1117960 14 77944624 [T/C] NM_199296,NM_182509 ISM2,ISM2 EXON Missense_K387E,Synonymous_G271G exm1117961 14 77944649 [A/G] NM_199296,NM_182509 ISM2,ISM2 EXON Synonymous_T378T,Missense_P263L exm1117963 14 77944945 [A/G] NM_199296,NM_182509 ISM2,ISM2 EXON Missense_R363C,Synonymous_P247P exm1117964 14 77944952 [A/G] NM_199296,NM_182509 ISM2,ISM2 EXON Synonymous_T360T,Missense_P245L exm1117973 14 77945053 [T/C] NM_199296,NM_182509 ISM2,ISM2 EXON Missense_E327K,Missense_M211I exm1117974 14 77945054 [A/C] NM_199296,NM_182509 ISM2,ISM2 EXON Nonsense_Y326X,Missense_M211R exm1117975 14 77948698 [T/C] NM_199296,NM_182509 ISM2,ISM2 EXON Missense_G314R,Silent exm1117981 14 77948837 [G/C] NM_199296,NM_182509 ISM2,ISM2 EXON Missense_E267D,Silent exm1117982 14 77948841 [T/C] NM_199296,NM_182509 ISM2,ISM2 EXON Missense_G266E,Silent exm1117986 14 77948937 [A/G] NM_199296,NM_182509 ISM2,ISM2 EXON Missense_P234L,Silent exm1117987 14 77948944 [T/C] NM_199296,NM_182509 ISM2,ISM2 EXON Missense_N232D,Silent exm1117990 14 77948970 [A/G] NM_199296,NM_182509 ISM2,ISM2 EXON Missense_S223L,Silent exm1117998 14 77950730 [A/G] NM_199296,NM_182509 ISM2,ISM2 EXON Missense_L188P,Missense_L188P exm1117999 14 77950739 [C/G] NM_199296,NM_182509 ISM2,ISM2 EXON Missense_P185R,Missense_P185R exm1118001 14 77950856 [T/A] NM_199296,NM_182509 ISM2,ISM2 EXON Missense_L146Q,Missense_L146Q exm1118004 14 77950896 [C/G] NM_199296,NM_182509 ISM2,ISM2 EXON Missense_P133A,Missense_P133A exm1118015 14 77951124 [T/C] NM_199296,NM_182509 ISM2,ISM2 EXON Missense_A94T,Missense_A94T exm1118016 14 77951142 [G/C] NM_199296,NM_182509 ISM2,ISM2 EXON Missense_A88P,Missense_A88P exm2251948 14 77951143 [T/C] NM_199296,NM_182509 ISM2,ISM2 EXON Synonymous_A87A,Synonymous_A87A exm1118017 14 77951143 [T/C] NM_199296,NM_182509 ISM2,ISM2 EXON Synonymous_A87A,Synonymous_A87A exm1118018 14 77951208 [T/G] NM_199296,NM_182509 ISM2,ISM2 EXON Missense_L66I,Missense_L66I exm2273521 14 77978621 [A/C] NM_004863 SPTLC2 EXON Silent exm1118030 14 77978652 [A/G] NM_004863 SPTLC2 EXON Missense_T555M exm1118044 14 78018546 [T/C] NM_004863 SPTLC2 EXON Missense_R399Q exm1118047 14 78021647 [T/C] NM_004863 SPTLC2 EXON Missense_K391R exm1118068 14 78043235 [C/G] NM_004863 SPTLC2 EXON Missense_G169A exm1118085 14 78140190 [T/C] NM_006020 ALKBH1 EXON Missense_E379K exm1118086 14 78140250 [T/C] NM_006020 ALKBH1 EXON Missense_E359K exm1118087 14 78140256 [A/G] NM_006020 ALKBH1 EXON Missense_P357S exm1821156 14 78140295 [A/G] NM_006020 ALKBH1 EXON Nonsense_R344X exm1118091 14 78140339 [A/C] NM_006020 ALKBH1 EXON Missense_V329G exm1118092 14 78140355 [T/A] NM_006020 ALKBH1 EXON Missense_M324L exm1118093 14 78140379 [T/C] NM_006020 ALKBH1 EXON Missense_D316N exm1118094 14 78140464 [A/G] NM_006020 ALKBH1 EXON Synonymous_H287H exm1118101 14 78140571 [T/C] NM_006020 ALKBH1 EXON Missense_A252T exm2276340 14 78142154 [A/G] NM_006020 ALKBH1 EXON Synonymous_D195D exm1118106 14 78146252 [T/C] NM_006020 ALKBH1 EXON Missense_V173I exm1118109 14 78161131 [T/C] NM_006020 ALKBH1 EXON Missense_M135I exm1118116 14 78170748 [T/C] NM_006020 ALKBH1 EXON Missense_S86G exm1821164 14 78170792 [G/C] NM_006020 ALKBH1 EXON Missense_S71C exm1118128 14 78174483 [T/C] NM_001267863,NM_001267864,NR_052025,NM_031210 SLIRP,SLIRP,SLIRP,SLIRP EXON Missense_A10V,Missense_A10V,Silent,Missense_A10V exm1118129 14 78174485 [T/G] NM_001267863,NM_001267864,NR_052025,NM_031210 SLIRP,SLIRP,SLIRP,SLIRP EXON Missense_A11S,Missense_A11S,Silent,Missense_A11S exm1118131 14 78174512 [G/C] NM_001267863,NM_001267864,NR_052025,NM_031210 SLIRP,SLIRP,SLIRP,SLIRP EXON Missense_V20L,Missense_V20L,Silent,Missense_V20L exm1118132 14 78177179 [A/G] NM_001267863,NM_001267864,NR_052025,NM_031210 SLIRP,SLIRP,SLIRP,SLIRP Silent,Silent,Silent,Silent exm1118138 14 78182212 [A/G] NM_001267863,NM_001267864,NR_052025,NM_031210 SLIRP,SLIRP,SLIRP,SLIRP EXON Missense_D85G,Missense_D85G,Silent,Missense_D85G exm1118144 14 78183894 [A/G] NM_001267863,NM_001267864,NR_052025,NM_031210 SLIRP,SLIRP,SLIRP,SLIRP EXON Missense_K105R,Silent,Silent,Missense_K107R exm1118217 14 78235971 [T/C] NM_001173978,NM_174943 C14orf178,C14orf178 EXON Missense_P77S,Missense_P107S exm1118218 14 78235999 [C/G] NM_001173978,NM_174943 C14orf178,C14orf178 EXON Missense_G86A,Missense_G116A exm1118228 14 78288812 [T/C] NM_001142545,NM_020421 ADCK1,ADCK1 EXON Missense_L57P,Missense_L57P exm1118230 14 78288860 [A/T] NM_001142545,NM_020421 ADCK1,ADCK1 EXON Missense_K73M,Missense_K73M exm1118241 14 78325573 [C/G] NM_001142545,NM_020421 ADCK1,ADCK1 EXON Silent,Missense_S125T exm1118243 14 78325602 [T/C] NM_001142545,NM_020421 ADCK1,ADCK1 EXON Silent,Nonsense_R135X exm1118250 14 78353477 [T/C] NM_001142545,NM_020421 ADCK1,ADCK1 EXON Missense_T88M,Missense_T156M exm1118252 14 78353521 [T/C] NM_001142545,NM_020421 ADCK1,ADCK1 EXON Missense_R103W,Missense_R171W exm1118257 14 78353587 [A/G] NM_001142545,NM_020421 ADCK1,ADCK1 EXON Missense_M125V,Missense_M193V exm1118267 14 78374201 [T/C] NM_001142545,NM_020421 ADCK1,ADCK1 EXON Missense_V198A,Missense_V266A exm1118270 14 78374216 [T/C] NM_001142545,NM_020421 ADCK1,ADCK1 EXON Missense_V203A,Missense_V271A exm1118285 14 78392126 [A/G] NM_001142545,NM_020421 ADCK1,ADCK1 EXON Missense_R275H,Missense_R343H exm1118286 14 78392171 [T/G] NM_001142545,NM_020421 ADCK1,ADCK1 EXON Missense_M290R,Missense_M358R exm1118287 14 78392182 [A/G] NM_001142545,NM_020421 ADCK1,ADCK1 EXON Missense_K294E,Missense_K362E exm1118292 14 78392248 [T/C] NM_001142545,NM_020421 ADCK1,ADCK1 EXON Nonsense_R316X,Nonsense_R384X exm1118295 14 78392290 [A/G] NM_001142545,NM_020421 ADCK1,ADCK1 EXON Missense_V330I,Missense_V398I exm1118300 14 78397906 [A/G] NM_001142545,NM_020421 ADCK1,ADCK1 EXON Missense_S350G,Missense_S418G exm1118304 14 78397930 [T/C] NM_001142545,NM_020421 ADCK1,ADCK1 EXON Missense_R358C,Missense_R426C exm1118307 14 78397973 [A/G] NM_001142545,NM_020421 ADCK1,ADCK1 EXON Missense_G372D,Missense_G440D exm1118310 14 78398005 [A/G] NM_001142545,NM_020421 ADCK1,ADCK1 EXON Missense_A383T,Missense_A451T exm1118321 14 78399664 [A/G] NM_001142545,NM_020421 ADCK1,ADCK1 EXON Missense_R433H,Missense_R501H exm1118322 14 78399690 [T/C] NM_001142545,NM_020421 ADCK1,ADCK1 EXON Missense_R442W,Missense_R510W exm1118323 14 78399691 [A/G] NM_001142545,NM_020421 ADCK1,ADCK1 EXON Missense_R442Q,Missense_R510Q exm2251950 14 78705184 [T/G] NR_073547 NRXN3 Silent exm-rs11624704 14 78786077 [A/C] NR_073547 NRXN3 Silent exm-rs6574433 14 78786159 [A/G] NR_073547 NRXN3 Silent exm2267724 14 79156785 [A/G] NR_073547,NM_004796 NRXN3,NRXN3 Silent,Silent exm1118377 14 79175609 [A/G] NR_073547,NM_004796 NRXN3,NRXN3 EXON Silent,Missense_R51Q exm1118383 14 79175866 [A/G] NR_073547,NM_004796 NRXN3,NRXN3 EXON Silent,Missense_V137M exm1118385 14 79175879 [A/C] NR_073547,NM_004796 NRXN3,NRXN3 EXON Silent,Missense_D141A exm1118394 14 79181288 [A/G] NR_073547,NM_004796 NRXN3,NRXN3 EXON Silent,Missense_D244G exm1118395 14 79181300 [A/G] NR_073547,NM_004796 NRXN3,NRXN3 EXON Silent,Missense_K248R exm1118401 14 79181481 [C/G] NR_073547,NM_004796 NRXN3,NRXN3 EXON Silent,Missense_R308S exm2260370 14 79416899 [A/G] NR_073547,NM_004796 NRXN3,NRXN3 Silent,Silent exm1118417 14 79423647 [T/C] NR_073547,NM_004796 NRXN3,NRXN3 EXON Silent,Missense_R407W exm1118434 14 79432622 [T/C] NR_073547,NM_004796 NRXN3,NRXN3 EXON Silent,Missense_L511F exm2251952 14 79433593 [A/G] NR_073547,NM_004796 NRXN3,NRXN3 EXON Silent,Synonymous_V567V exm1118451 14 79434678 [A/G] NR_073547,NM_004796 NRXN3,NRXN3 EXON Silent,Missense_R671H exm2272118 14 79451465 [T/C] NR_073547,NM_004796 NRXN3,NRXN3 Silent,Silent exm1118459 14 79746653 [A/G] NR_073547,NM_004796,NR_073546,NM_001272020,NM_138970,NM_001105250 NRXN3,NRXN3,NRXN3,NRXN3,NRXN3,NRXN3 EXON Silent,Silent,Silent,Missense_A7T,Missense_A7T,Missense_A7T exm1821301 14 79746845 [A/G] NR_073547,NM_004796,NR_073546,NM_001272020,NM_138970,NM_001105250 NRXN3,NRXN3,NRXN3,NRXN3,NRXN3,NRXN3 EXON Silent,Silent,Silent,Missense_I71V,Missense_I71V,Missense_I71V exm-rs10146997 14 79945162 [A/G] NR_073547,NM_004796,NR_073546,NM_001272020,NM_138970,NM_001105250 NRXN3,NRXN3,NRXN3,NRXN3,NRXN3,NRXN3 Silent,Silent,Silent,Silent,Silent,Silent exm1118490 14 80164255 [A/C] NR_073547,NM_004796,NR_073546,NM_001272020,NM_138970,NM_001105250 NRXN3,NRXN3,NRXN3,NRXN3,NRXN3,NRXN3 EXON Silent,Missense_K927T,Silent,Missense_K295T,Missense_K295T,Missense_K325T exm2274711 14 80328263 [A/G] NR_073547,NM_004796,NR_073546,NM_001272020,NM_138970,NM_001105250 NRXN3,NRXN3,NRXN3,NRXN3,NRXN3,NRXN3 EXON Silent,Missense_G1048S,Silent,Missense_G624S,Missense_G419S,Missense_G446S exm2267726 14 80408653 [A/G] exm1821317 14 80669091 [A/G] NM_000793,NM_013989,NM_001242503,NM_001242502,NM_001007023 DIO2,DIO2,DIO2,DIO2,DIO2 EXON Missense_R255W,Missense_R255W,Silent,Silent,Missense_R291W exm1118513 14 80669318 [A/G] NM_000793,NM_013989,NM_001242503,NM_001242502,NM_001007023 DIO2,DIO2,DIO2,DIO2,DIO2 EXON Missense_S179F,Missense_S179F,Silent,Silent,Missense_S215F exm1118522 14 80669580 [T/C] NM_000793,NM_013989,NM_001242503,NM_001242502,NM_001007023 DIO2,DIO2,DIO2,DIO2,DIO2 EXON Missense_T92A,Missense_T92A,Silent,Silent,Missense_T128A exm2251956 14 80783020 [T/C] NR_038355 DIO2-AS1 Silent exm1118536 14 80963829 [T/C] NM_152446 CEP128 EXON Missense_G1093E exm1118541 14 80971261 [T/C] NM_152446 CEP128 EXON Missense_V1059M exm1118543 14 80971329 [T/C] NM_152446 CEP128 EXON Missense_R1036H exm2222832 14 80993320 [A/G] NM_152446 CEP128 EXON Missense_C989R exm1118554 14 80997207 [A/C] NM_152446 CEP128 EXON Missense_H968Q exm1118558 14 81025624 [A/G] NM_152446 CEP128 EXON Missense_T960M exm1118567 14 81209551 [A/G] NM_152446 CEP128 EXON Nonsense_R892X exm1118569 14 81209580 [T/C] NM_152446 CEP128 EXON Missense_K882R exm1118572 14 81227808 [G/C] NM_152446 CEP128 EXON Missense_F842L exm1118581 14 81244350 [T/C] NM_152446 CEP128 EXON Missense_R751H exm1118584 14 81251255 [T/C] NM_152446 CEP128 EXON Missense_H732R exm1118589 14 81251406 [T/G] NM_152446 CEP128 EXON Missense_I682L exm1118593 14 81251591 [T/C] NM_152446 CEP128 EXON Missense_K620R exm1118594 14 81251592 [T/G] NM_152446 CEP128 EXON Missense_K620Q exm1118596 14 81251633 [A/T] NM_152446 CEP128 EXON Missense_K606I exm1118603 14 81251792 [T/C] NM_152446 CEP128 EXON Missense_R553H exm1118605 14 81251813 [A/G] NM_152446 CEP128 EXON Missense_L546S exm1821360 14 81259157 [T/C] NM_152446 CEP128 EXON Missense_A503T exm1118607 14 81259160 [A/G] NM_152446 CEP128 EXON Nonsense_R502X exm1118613 14 81259292 [T/C] NM_152446 CEP128 EXON Missense_A458T exm1118614 14 81259312 [A/G] NM_152446 CEP128 EXON Missense_A451V exm1118616 14 81259336 [T/C] NM_152446 CEP128 EXON Missense_Q443R exm1821363 14 81259358 [T/C] NM_152446 CEP128 EXON Missense_E436K exm1118619 14 81259399 [T/C] NM_152446 CEP128 EXON Missense_R422Q exm1118629 14 81297635 [A/G] NM_152446 CEP128 EXON Missense_V354A exm2222834 14 81304598 [A/G] NM_152446 CEP128 EXON Nonsense_R292X exm1118642 14 81307085 [T/C] NM_152446 CEP128 EXON Missense_D264N exm1118643 14 81307087 [A/G] NM_152446 CEP128 EXON Missense_A263V exm1118647 14 81329130 [T/G] NM_152446 CEP128 EXON Missense_L245M exm1118648 14 81329142 [A/G] NM_152446 CEP128 EXON Missense_R241C exm2274712 14 81329198 [T/C] NM_152446 CEP128 EXON Missense_R222Q exm1118654 14 81329199 [A/G] NM_152446 CEP128 EXON Missense_R222W exm1118668 14 81366344 [T/G] NM_152446 CEP128 EXON Missense_D170E exm1821388 14 81371188 [A/C] NM_152446 CEP128 EXON Missense_R150L exm1118672 14 81371207 [T/C] NM_152446 CEP128 EXON Missense_R144G exm1118673 14 81371209 [A/G] NM_152446 CEP128 EXON Missense_M143T exm1118681 14 81380682 [A/G] NM_152446 CEP128 EXON Missense_A73V exm1118683 14 81380734 [A/G] NM_152446 CEP128 EXON Nonsense_R56X exm1118689 14 81382845 [A/C] NM_152446 CEP128 EXON Missense_R16L exm1118694 14 81422124 [A/G] NM_000369,NM_001142626,NM_001018036 TSHR,TSHR,TSHR EXON Missense_E34K,Missense_E34K,Missense_E34K exm1118695 14 81422130 [G/C] NM_000369,NM_001142626,NM_001018036 TSHR,TSHR,TSHR EXON Missense_D36H,Missense_D36H,Missense_D36H exm1118697 14 81422146 [C/G] NM_000369,NM_001142626,NM_001018036 TSHR,TSHR,TSHR EXON Missense_C41S,Missense_C41S,Missense_C41S exm1118698 14 81422169 [A/G] NM_000369,NM_001142626,NM_001018036 TSHR,TSHR,TSHR EXON Missense_S49G,Missense_S49G,Missense_S49G exm1118699 14 81422178 [A/C] NM_000369,NM_001142626,NM_001018036 TSHR,TSHR,TSHR EXON Missense_P52T,Missense_P52T,Missense_P52T exm2272121 14 81448382 [T/G] NM_000369,NM_001142626,NM_001018036 TSHR,TSHR,TSHR Silent,Silent,Silent exm-rs17111394 14 81523128 [T/C] NM_000369,NM_001142626,NM_001018036 TSHR,TSHR,TSHR Silent,Silent,Silent exm1118702 14 81528523 [T/C] NM_000369,NM_001142626,NM_001018036 TSHR,TSHR,TSHR EXON Missense_P68S,Missense_P68S,Missense_P68S exm2267727 14 81553786 [A/G] NM_000369,NM_001142626,NM_001018036 TSHR,TSHR,TSHR Silent,Silent,Silent exm1118710 14 81557483 [A/T] NM_000369,NM_001142626,NM_001018036 TSHR,TSHR,TSHR EXON Missense_I155L,Missense_I155L,Missense_I155L exm1118711 14 81558891 [G/C] NM_000369,NM_001142626,NM_001018036 TSHR,TSHR,TSHR EXON Missense_P162A,Missense_P162A,Missense_P162A exm2272122 14 81572939 [T/C] NM_000369,NM_001142626,NM_001018036 TSHR,TSHR,TSHR Silent,Silent,Silent exm2251958 14 81574959 [A/G] NM_000369,NM_001142626,NM_001018036 TSHR,TSHR,TSHR EXON Silent,Synonymous_L253L,Synonymous_L232L exm1118722 14 81574959 [A/G] NM_000369,NM_001142626,NM_001018036 TSHR,TSHR,TSHR EXON Silent,Synonymous_L253L,Synonymous_L232L exm1118724 14 81575005 [A/C] NM_000369,NM_001142626,NM_001018036 TSHR,TSHR,TSHR EXON Silent,Missense_R269S,Missense_R248S exm-rs8017455 14 81575454 [T/C] NM_000369 TSHR Silent exm2274713 14 81606063 [A/G] NM_000369 TSHR EXON Missense_G245S exm1821430 14 81609317 [T/A] NM_000369 TSHR EXON Missense_S305R exm1118733 14 81609331 [A/G] NM_000369 TSHR EXON Missense_R310H exm1118736 14 81609462 [A/G] NM_000369 TSHR EXON Missense_V354I exm1118738 14 81609576 [A/G] NM_000369 TSHR EXON Missense_D392N exm1118749 14 81609721 [T/C] NM_000369 TSHR EXON Missense_L440P exm1118750 14 81609723 [A/C] NM_000369 TSHR EXON Missense_T441P exm1118762 14 81609976 [T/C] NM_000369 TSHR EXON Missense_F525S exm1118768 14 81610039 [A/G] NM_000369 TSHR EXON Nonsense_W546X exm1118772 14 81610123 [C/G] NM_000369 TSHR EXON Missense_T574S exm1118776 14 81610185 [A/G] NM_000369 TSHR EXON Missense_V595I exm1821441 14 81610228 [A/G] NM_000369 TSHR EXON Missense_R609Q exm1118794 14 81610503 [T/C] NM_000369 TSHR EXON Missense_R701C exm1118803 14 81610634 [C/G] NM_000369 TSHR EXON Missense_N744K exm1118809 14 81658911 [A/C] NM_015859,NR_048573,NM_201595 GTF2A1,GTF2A1,GTF2A1 EXON Missense_E295D,Silent,Missense_E256D exm1118826 14 81662555 [T/C] NM_015859,NR_048573,NM_201595 GTF2A1,GTF2A1,GTF2A1 EXON Missense_N170S,Silent,Missense_N131S exm1118845 14 81736917 [T/C] NM_033104,NM_001256430 STON2,STON2 EXON Missense_A904T,Silent exm1118851 14 81737076 [A/C] NM_033104,NM_001256430 STON2,STON2 EXON Missense_S851A,Missense_S851A exm1118852 14 81737079 [T/C] NM_033104,NM_001256430 STON2,STON2 EXON Missense_I850V,Missense_I850V exm1821467 14 81737108 [A/G] NM_033104,NM_001256430 STON2,STON2 EXON Missense_T840I,Missense_T840I exm1118854 14 81737141 [T/C] NM_033104,NM_001256430 STON2,STON2 EXON Missense_N829S,Missense_N829S exm1118860 14 81743284 [T/G] NM_033104,NM_001256430 STON2,STON2 EXON Missense_I791L,Missense_I791L exm1118862 14 81743331 [A/G] NM_033104,NM_001256430 STON2,STON2 EXON Missense_M775T,Missense_M775T exm1118875 14 81743541 [G/C] NM_033104,NM_001256430 STON2,STON2 EXON Missense_S705T,Missense_S705T exm1118877 14 81743565 [T/C] NM_033104,NM_001256430 STON2,STON2 EXON Missense_N697S,Missense_N697S exm1118878 14 81743575 [T/C] NM_033104,NM_001256430 STON2,STON2 EXON Missense_T694A,Missense_T694A exm1118879 14 81743580 [A/G] NM_033104,NM_001256430 STON2,STON2 EXON Missense_T692M,Missense_T692M exm1118882 14 81743617 [T/C] NM_033104,NM_001256430 STON2,STON2 EXON Missense_V680M,Missense_V680M exm1821478 14 81743712 [T/C] NM_033104,NM_001256430 STON2,STON2 EXON Missense_H648R,Missense_H648R exm1118888 14 81743718 [T/C] NM_033104,NM_001256430 STON2,STON2 EXON Missense_R646H,Missense_R646H exm1118904 14 81744001 [T/G] NM_033104,NM_001256430 STON2,STON2 EXON Missense_L552M,Missense_L552M exm1118905 14 81744012 [T/C] NM_033104,NM_001256430 STON2,STON2 EXON Missense_R548H,Missense_R548H exm1118908 14 81744076 [T/C] NM_033104,NM_001256430 STON2,STON2 EXON Missense_V527M,Missense_V527M exm1118922 14 81744367 [T/C] NM_033104,NM_001256430 STON2,STON2 EXON Missense_M430V,Missense_M430V exm1118924 14 81744381 [T/C] NM_033104,NM_001256430 STON2,STON2 EXON Missense_R425H,Missense_R425H exm2222839 14 81744412 [A/G] NM_033104,NM_001256430 STON2,STON2 EXON Missense_H415Y,Missense_H415Y exm1118941 14 81744693 [T/C] NM_033104,NM_001256430 STON2,STON2 EXON Missense_Q321R,Missense_Q321R exm1118942 14 81744736 [A/G] NM_033104,NM_001256430 STON2,STON2 EXON Missense_S307P,Missense_S307P exm1118944 14 81744756 [A/G] NM_033104,NM_001256430 STON2,STON2 EXON Missense_T300M,Missense_T300M exm1118945 14 81744759 [T/C] NM_033104,NM_001256430 STON2,STON2 EXON Missense_R299H,Missense_R299H exm1118947 14 81744822 [T/C] NM_033104,NM_001256430 STON2,STON2 EXON Missense_R278H,Missense_R278H exm1118953 14 81745038 [C/G] NM_033104,NM_001256430 STON2,STON2 EXON Missense_A206G,Missense_A206G exm1118955 14 81837335 [T/C] NM_033104,NM_001256430 STON2,STON2 EXON Missense_T190A,Missense_T190A exm1118960 14 81837403 [A/G] NM_033104,NM_001256430 STON2,STON2 EXON Missense_S167L,Missense_S167L exm2251959 14 81862362 [A/G] NM_033104,NM_001256430 STON2,STON2 EXON Synonymous_S83S,Synonymous_S83S exm1118982 14 81864722 [A/G] NM_033104,NM_001256430 STON2,STON2 EXON Missense_T2M,Missense_T2M exm2260373 14 81921468 [T/C] exm1118996 14 81945991 [T/C] NM_005065 SEL1L EXON Missense_V714I exm1118999 14 81950631 [A/G] NM_005065 SEL1L EXON Missense_H662Y exm1119000 14 81950685 [T/C] NM_005065 SEL1L EXON Missense_D644N exm1119005 14 81952737 [T/C] NM_005065 SEL1L EXON Missense_S565N exm1119023 14 81964814 [T/C] NM_005065 SEL1L EXON Missense_G306S exm1119036 14 81969168 [A/G] NM_005065,NM_001244984 SEL1L,SEL1L EXON Missense_V225A,Missense_V225A exm1119038 14 81969219 [T/C] NM_005065,NM_001244984 SEL1L,SEL1L EXON Missense_R208Q,Missense_R208Q exm1119043 14 81970587 [A/G] NM_005065,NM_001244984 SEL1L,SEL1L EXON Missense_M191T,Missense_M191T exm1119044 14 81970603 [T/C] NM_005065,NM_001244984 SEL1L,SEL1L EXON Missense_M186V,Missense_M186V exm1119046 14 81972441 [T/C] NM_005065,NM_001244984 SEL1L,SEL1L EXON Missense_D162G,Missense_D162G exm1119051 14 81993085 [T/C] NM_005065,NM_001244984 SEL1L,SEL1L EXON Missense_R111Q,Missense_R111Q exm1119053 14 81993125 [A/T] NM_005065,NM_001244984 SEL1L,SEL1L EXON Missense_N98Y,Missense_N98Y exm1119062 14 81994070 [T/C] NM_005065,NM_001244984 SEL1L,SEL1L EXON Missense_S28N,Missense_S28N exm1119069 14 82000085 [A/G] NM_005065,NM_001244984 SEL1L,SEL1L EXON Missense_R2W,Missense_R2W exm2272123 14 82291042 [T/C] exm2272124 14 82827370 [T/C] exm2267728 14 83077272 [A/G] exm-rs946918 14 83472868 [T/G] exm2272187 14 83724760 [T/C] exm2272125 14 83778352 [T/C] exm2260377 14 84696848 [A/G] exm-rs11159647 14 84775209 [A/G] exm2251967 14 84904759 [T/C] exm2272127 14 85429403 [T/C] exm2260378 14 85820752 [A/G] exm-rs1885315 14 85915440 [A/C] exm2251969 14 85992271 [T/C] exm1119091 14 86088177 [A/C] NM_013231 FLRT2 EXON Missense_L107I exm1119092 14 86088255 [T/G] NM_013231 FLRT2 EXON Missense_L133V exm1119094 14 86088315 [A/G] NM_013231 FLRT2 EXON Missense_G153R exm1119101 14 86088523 [C/G] NM_013231 FLRT2 EXON Missense_A222G exm1821570 14 86088600 [G/C] NM_013231 FLRT2 EXON Missense_D248H exm1119117 14 86088906 [A/G] NM_013231 FLRT2 EXON Missense_V350I exm1119124 14 86089032 [A/G] NM_013231 FLRT2 EXON Missense_S392G exm1119130 14 86089078 [T/C] NM_013231 FLRT2 EXON Missense_T407M exm1119133 14 86089161 [A/T] NM_013231 FLRT2 EXON Missense_T435S exm1119137 14 86089243 [T/C] NM_013231 FLRT2 EXON Missense_V462A exm1119140 14 86089275 [A/G] NM_013231 FLRT2 EXON Missense_G473S exm1119141 14 86089315 [A/G] NM_013231 FLRT2 EXON Missense_R486Q exm1821575 14 86089434 [A/G] NM_013231 FLRT2 EXON Missense_A526T exm1119152 14 86089470 [A/G] NM_013231 FLRT2 EXON Missense_G538S exm2251971 14 86089508 [T/G] NM_013231 FLRT2 EXON Synonymous_A550A exm2260379 14 86186113 [A/G] exm-rs12890229 14 86268812 [A/C] exm2267675 14 86378529 [A/G] exm2267676 14 86778000 [A/G] exm2267677 14 87178343 [A/G] exm2267732 14 87384188 [A/G] NR_038445 LOC283585 Silent exm-rs11624056 14 87506248 [T/A] exm2264548 14 87775721 [A/C] exm2267733 14 87924278 [A/G] exm1119173 14 88401213 [T/C] NM_000153,NM_001201401,NM_001201402 GALC,GALC,GALC EXON Missense_T641A,Missense_T618A,Missense_T615A exm1821655 14 88406259 [A/G] NM_000153,NM_001201401,NM_001201402 GALC,GALC,GALC EXON Missense_L634S,Missense_L611S,Missense_L608S exm1119178 14 88406298 [T/C] NM_000153,NM_001201401,NM_001201402 GALC,GALC,GALC EXON Missense_R621H,Missense_R598H,Missense_R595H exm1119187 14 88407888 [A/G] NM_000153,NM_001201401,NM_001201402 GALC,GALC,GALC EXON Missense_I562T,Missense_I539T,Missense_I536T exm1119195 14 88411981 [A/G] NM_000153,NM_001201401,NM_001201402 GALC,GALC,GALC EXON Missense_T529M,Missense_T506M,Missense_T503M exm1119202 14 88414158 [C/G] NM_000153,NM_001201401,NM_001201402 GALC,GALC,GALC EXON Missense_T468S,Missense_T445S,Missense_T442S exm1119223 14 88429742 [T/C] NM_000153,NM_001201401,NM_001201402 GALC,GALC,GALC EXON Missense_I383V,Missense_I360V,Missense_I357V exm1119227 14 88429817 [A/G] NM_000153,NM_001201401,NM_001201402 GALC,GALC,GALC EXON Synonymous_L358L,Synonymous_L335L,Synonymous_L332L exm1119232 14 88431876 [T/C] NM_000153,NM_001201401,NM_001201402 GALC,GALC,GALC EXON Missense_V336M,Missense_V313M,Missense_V310M exm1119235 14 88431885 [T/C] NM_000153,NM_001201401,NM_001201402 GALC,GALC,GALC EXON Missense_G333R,Missense_G310R,Missense_G307R exm1119240 14 88431969 [T/C] NM_000153,NM_001201401,NM_001201402 GALC,GALC,GALC EXON Missense_I305V,Missense_I282V,Missense_I279V exm1119248 14 88442712 [T/C] NM_000153,NM_001201401,NM_001201402 GALC,GALC,GALC EXON Missense_D248N,Missense_D225N,Missense_D222N exm1119252 14 88442795 [T/C] NM_000153,NM_001201401,NM_001201402 GALC,GALC,GALC EXON Missense_R220Q,Missense_R197Q,Missense_R194Q exm1119259 14 88450770 [A/G] NM_000153,NM_001201401,NM_001201402 GALC,GALC,GALC EXON Missense_R184C,Missense_R161C,Missense_R158C exm1119260 14 88450790 [T/G] NM_000153,NM_001201401,NM_001201402 GALC,GALC,GALC EXON Missense_T177N,Missense_T154N,Missense_T151N exm1119269 14 88452896 [A/G] NM_000153,NM_001201401,NM_001201402 GALC,GALC,GALC EXON Nonsense_R127X,Nonsense_R104X,Nonsense_R101X exm1119270 14 88452926 [T/C] NM_000153,NM_001201401,NM_001201402 GALC,GALC,GALC EXON Missense_M117V,Missense_M94V,Missense_M91V exm1119271 14 88452941 [T/C] NM_000153,NM_001201401,NM_001201402 GALC,GALC,GALC EXON Missense_T112A,Missense_T89A,Missense_T86A exm1119272 14 88452945 [A/G] NM_000153,NM_001201401,NM_001201402 GALC,GALC,GALC EXON Synonymous_D110D,Synonymous_D87D,Synonymous_D84D exm1119277 14 88454550 [A/G] NM_000153,NM_001201401,NM_001201402 GALC,GALC,GALC EXON Missense_P89L,Missense_P66L,Missense_P63L exm1119278 14 88454553 [T/C] NM_000153,NM_001201401,NM_001201402 GALC,GALC,GALC Silent,Silent,Silent exm1119282 14 88454828 [A/G] NM_000153,NM_001201401,NM_001201402 GALC,GALC,GALC EXON Missense_R79C,Silent,Missense_R53C exm1119305 14 88459795 [T/C] NM_001201402 GALC EXON Missense_A17T exm-rs8005161 14 88472595 [T/C] NM_003608 GPR65 Silent exm1119320 14 88477577 [G/C] NM_003608 GPR65 EXON Missense_R129T exm1119324 14 88477660 [A/G] NM_003608 GPR65 EXON Missense_V157I exm1119333 14 88477882 [A/C] NM_003608 GPR65 EXON Missense_I231L exm1821692 14 88478003 [T/C] NM_003608 GPR65 EXON Missense_M271T exm2267678 14 88498122 [A/G] NR_046094 LOC283587 Silent exm2272129 14 88632321 [T/C] exm1119340 14 88651913 [A/G] NM_021161,NM_138318,NM_138317 KCNK10,KCNK10,KCNK10 EXON Missense_P528L,Missense_P533L,Missense_P533L exm1119341 14 88651919 [T/C] NM_021161,NM_138318,NM_138317 KCNK10,KCNK10,KCNK10 EXON Missense_R526Q,Missense_R531Q,Missense_R531Q exm1119344 14 88651934 [A/G] NM_021161,NM_138318,NM_138317 KCNK10,KCNK10,KCNK10 EXON Missense_T521M,Missense_T526M,Missense_T526M exm1119345 14 88651962 [T/C] NM_021161,NM_138318,NM_138317 KCNK10,KCNK10,KCNK10 EXON Missense_A512T,Missense_A517T,Missense_A517T exm1119349 14 88652013 [T/C] NM_021161,NM_138318,NM_138317 KCNK10,KCNK10,KCNK10 EXON Missense_N495D,Missense_N500D,Missense_N500D exm1119354 14 88652067 [A/G] NM_021161,NM_138318,NM_138317 KCNK10,KCNK10,KCNK10 EXON Missense_R477W,Missense_R482W,Missense_R482W exm1119360 14 88652178 [T/C] NM_021161,NM_138318,NM_138317 KCNK10,KCNK10,KCNK10 EXON Missense_E440K,Missense_E445K,Missense_E445K exm1119361 14 88652183 [A/G] NM_021161,NM_138318,NM_138317 KCNK10,KCNK10,KCNK10 EXON Missense_A438V,Missense_A443V,Missense_A443V exm1119369 14 88652277 [A/G] NM_021161,NM_138318,NM_138317 KCNK10,KCNK10,KCNK10 EXON Missense_R407C,Missense_R412C,Missense_R412C exm1119392 14 88658675 [A/G] NM_021161,NM_138318,NM_138317 KCNK10,KCNK10,KCNK10 EXON Missense_T249M,Missense_T254M,Missense_T254M exm1119405 14 88693878 [A/C] NM_021161,NM_138318,NM_138317 KCNK10,KCNK10,KCNK10 EXON Synonymous_G169G,Synonymous_G174G,Synonymous_G174G exm2272188 14 88769467 [T/C] NM_021161,NM_138317 KCNK10,KCNK10 Silent,Silent exm-rs17124581 14 88826682 [T/C] exm1119471 14 88862529 [A/G] NM_001040428,NM_018418 SPATA7,SPATA7 EXON Missense_V42M,Missense_V74M exm1119475 14 88883100 [A/G] NM_001040428,NM_018418 SPATA7,SPATA7 EXON Missense_Q63R,Missense_Q95R exm1119478 14 88883173 [T/G] NM_001040428,NM_018418 SPATA7,SPATA7 EXON Missense_F87L,Missense_F119L exm1119479 14 88883180 [T/A] NM_001040428,NM_018418 SPATA7,SPATA7 EXON Missense_L90I,Missense_L122I exm1119480 14 88883182 [A/T] NM_001040428,NM_018418 SPATA7,SPATA7 EXON Missense_L90F,Missense_L122F exm1119486 14 88892697 [A/G] NM_001040428,NM_018418 SPATA7,SPATA7 EXON Missense_S133N,Missense_S165N exm1119495 14 88892856 [T/C] NM_001040428,NM_018418 SPATA7,SPATA7 EXON Missense_S186L,Missense_S218L exm1119505 14 88893018 [A/G] NM_001040428,NM_018418 SPATA7,SPATA7 EXON Missense_R240Q,Missense_R272Q exm1119515 14 88895702 [A/G] NM_001040428,NM_018418 SPATA7,SPATA7 EXON Missense_C276Y,Missense_C308Y exm1119520 14 88895750 [A/G] NM_001040428,NM_018418 SPATA7,SPATA7 EXON Missense_G292E,Missense_G324E exm1119522 14 88897554 [A/G] NM_001040428,NM_018418 SPATA7,SPATA7 EXON Missense_R324H,Missense_R356H exm1119525 14 88899508 [T/C] NM_001040428,NM_018418 SPATA7,SPATA7 EXON Missense_I339T,Missense_I371T exm1119530 14 88904204 [A/G] NM_001040428,NM_018418 SPATA7,SPATA7 EXON Missense_H381R,Missense_H413R exm1119540 14 88904356 [T/C] NM_001040428,NM_018418 SPATA7,SPATA7 EXON Missense_R432C,Missense_R464C exm1119541 14 88904369 [A/G] NM_001040428,NM_018418 SPATA7,SPATA7 EXON Missense_Q436R,Missense_Q468R exm1119543 14 88904391 [T/G] NM_001040428,NM_018418 SPATA7,SPATA7 EXON Missense_L443F,Missense_L475F exm1119545 14 88904456 [A/G] NM_001040428,NM_018418 SPATA7,SPATA7 EXON Missense_K465R,Missense_K497R exm1119549 14 88904567 [A/G] NM_001040428,NM_018418 SPATA7,SPATA7 EXON Missense_R502Q,Missense_R534Q exm1119551 14 88904588 [T/C] NM_001040428,NM_018418 SPATA7,SPATA7 EXON Missense_I509T,Missense_I541T exm2273522 14 88934443 [T/C] NM_007039 PTPN21 EXON Silent exm1119571 14 88934592 [T/G] NM_007039 PTPN21 EXON Missense_R1138S exm1821756 14 88935280 [T/C] NM_007039 PTPN21 EXON Missense_A1126T exm1119584 14 88935360 [T/C] NM_007039 PTPN21 EXON Missense_S1099N exm1119586 14 88935875 [T/G] NM_007039 PTPN21 EXON Missense_H1068P exm1119602 14 88938632 [T/C] NM_007039 PTPN21 EXON Missense_T943A exm1119603 14 88938652 [A/G] NM_007039 PTPN21 EXON Missense_V936A exm1119609 14 88940047 [T/C] NM_007039 PTPN21 EXON Missense_G871R exm1119612 14 88940082 [T/C] NM_007039 PTPN21 EXON Missense_G859E exm1119620 14 88945316 [A/G] NM_007039 PTPN21 EXON Missense_S820L exm1119648 14 88945685 [T/C] NM_007039 PTPN21 EXON Missense_H697R exm1119649 14 88945689 [G/C] NM_007039 PTPN21 EXON Missense_G696R exm1119660 14 88945877 [T/G] NM_007039 PTPN21 EXON Missense_H633P exm1119692 14 88946388 [T/C] NM_007039 PTPN21 EXON Missense_V463M exm1119700 14 88946499 [T/C] NM_007039 PTPN21 EXON Missense_V426I exm1119702 14 88946622 [A/G] NM_007039 PTPN21 EXON Missense_L385F exm1119708 14 88951486 [T/C] NM_007039 PTPN21 EXON Missense_V338M exm1119712 14 88952158 [T/C] NM_007039 PTPN21 EXON Missense_I321V exm1119716 14 88962793 [A/G] NM_007039 PTPN21 EXON Missense_A299V exm1119728 14 88967662 [C/G] NM_007039 PTPN21 EXON Missense_R213T exm1119733 14 88971714 [T/C] NM_007039 PTPN21 EXON Synonymous_A150A exm1119734 14 88971715 [A/G] NM_007039 PTPN21 EXON Missense_A150V exm1119739 14 88974290 [T/C] NM_007039 PTPN21 EXON Missense_Q142R exm1119748 14 88983566 [G/C] NM_007039 PTPN21 EXON Missense_Q74E exm1821825 14 89034481 [A/G] NM_001160104,NM_024824,NM_001160103,NM_207660,NM_207661 ZC3H14,ZC3H14,ZC3H14,ZC3H14,ZC3H14 EXON Missense_I60V,Missense_I60V,Missense_I60V,Missense_I60V,Missense_I26V exm1821832 14 89038424 [G/C] NM_001160104,NM_024824,NM_001160103,NM_207660,NM_207661 ZC3H14,ZC3H14,ZC3H14,ZC3H14,ZC3H14 EXON Missense_P96A,Missense_P96A,Missense_P96A,Missense_P96A,Missense_P62A exm1119794 14 89039250 [A/G] NM_001160104,NM_024824,NM_001160103,NM_207660,NM_207661 ZC3H14,ZC3H14,ZC3H14,ZC3H14,ZC3H14 EXON Missense_V254I,Missense_V254I,Missense_V254I,Missense_V254I,Missense_V220I exm1119796 14 89039308 [A/G] NM_001160104,NM_024824,NM_001160103,NM_207660,NM_207661 ZC3H14,ZC3H14,ZC3H14,ZC3H14,ZC3H14 EXON Missense_Y273C,Missense_Y273C,Missense_Y273C,Missense_Y273C,Missense_Y239C exm1119813 14 89044465 [T/G] NM_001160104,NM_024824,NM_001160103,NM_207660,NM_207661 ZC3H14,ZC3H14,ZC3H14,ZC3H14,ZC3H14 EXON Missense_D420E,Missense_D420E,Missense_D420E,Missense_D420E,Missense_D386E exm1119830 14 89061375 [A/G] NM_001160104,NM_024824,NM_001160103,NM_207660,NM_207661,NM_207662 ZC3H14,ZC3H14,ZC3H14,ZC3H14,ZC3H14,ZC3H14 EXON Silent,Silent,Silent,Silent,Silent,Missense_E102G exm1119832 14 89063102 [T/C] NM_001160104,NM_024824,NM_001160103,NM_207660,NM_207661,NM_207662 ZC3H14,ZC3H14,ZC3H14,ZC3H14,ZC3H14,ZC3H14 EXON Missense_S435F,Missense_S435F,Missense_S435F,Silent,Missense_S401F,Missense_S137F exm1119837 14 89068345 [A/G] NM_001160104,NM_024824,NM_001160103,NM_207660,NM_207661,NM_207662 ZC3H14,ZC3H14,ZC3H14,ZC3H14,ZC3H14,ZC3H14 EXON Missense_V478I,Missense_V478I,Missense_V478I,Silent,Silent,Silent exm1119848 14 89075729 [A/G] NM_001160104,NM_024824,NM_001160103,NM_207660,NM_207661,NM_207662 ZC3H14,ZC3H14,ZC3H14,ZC3H14,ZC3H14,ZC3H14 EXON Missense_V658I,Missense_V663I,Missense_V663I,Missense_V507I,Missense_V498I,Missense_V234I exm1119853 14 89077209 [T/C] NM_001160104,NM_024824,NM_001160103,NM_207660,NM_207661,NM_207662 ZC3H14,ZC3H14,ZC3H14,ZC3H14,ZC3H14,ZC3H14 EXON Missense_P704L,Missense_P710L,Missense_P709L,Missense_P553L,Missense_P545L,Missense_P280L exm1119857 14 89078090 [A/G] NM_001160104,NM_024824,NM_001160103,NM_207660,NM_207661,NM_207662 ZC3H14,ZC3H14,ZC3H14,ZC3H14,ZC3H14,ZC3H14 EXON Missense_E730K,Missense_E736K,Missense_E735K,Missense_E579K,Missense_E571K,Missense_E306K exm1119869 14 89084617 [A/G] NM_183387 EML5 EXON Missense_M1866T exm1119874 14 89087113 [T/G] NM_183387 EML5 EXON Missense_A1787E exm1119918 14 89124608 [C/G] NM_183387 EML5 EXON Missense_T1267R exm1119928 14 89128111 [T/G] NM_183387 EML5 EXON Missense_P1188T exm1119954 14 89154749 [A/C] NM_183387 EML5 EXON Missense_V870L exm1119965 14 89161797 [T/C] NM_183387 EML5 EXON Synonymous_A782A exm1821903 14 89161798 [A/G] NM_183387 EML5 EXON Missense_A782V exm2222856 14 89171861 [T/C] NM_183387 EML5 EXON Missense_I633V exm1119974 14 89172605 [T/C] NM_183387 EML5 EXON Missense_Q608R exm1119983 14 89178711 [T/C] NM_183387 EML5 EXON Missense_I521V exm2222859 14 89192901 [T/C] NM_183387 EML5 EXON Missense_T391A exm1120001 14 89205265 [T/C] NM_183387 EML5 EXON Missense_I269V exm1120002 14 89206732 [A/G] NM_183387 EML5 EXON Missense_A237V exm1120007 14 89206861 [A/G] NM_183387 EML5 EXON Missense_T194M exm1120011 14 89212552 [T/C] NM_183387 EML5 EXON Missense_M145V exm2274714 14 89212603 [A/G] NM_183387 EML5 EXON Missense_S128P exm1120025 14 89305845 [A/G] NM_144596,NM_198309,NM_198310 TTC8,TTC8,TTC8 EXON Missense_D65G,Missense_D55G,Missense_D55G exm1120028 14 89307227 [A/G] NM_144596,NM_198309,NM_198310 TTC8,TTC8,TTC8 EXON Missense_K95R,Missense_K85R,Missense_K85R exm1120038 14 89307540 [A/G] NM_144596,NM_198309,NM_198310 TTC8,TTC8,TTC8 EXON Synonymous_T163T,Synonymous_T153T,Synonymous_T153T exm1821950 14 89307769 [A/G] NM_144596,NM_198309,NM_198310 TTC8,TTC8,TTC8 EXON Missense_A164T,Missense_A154T,Silent exm2272130 14 89311519 [T/G] NM_144596,NM_198309,NM_198310 TTC8,TTC8,TTC8 Silent,Silent,Silent exm1120061 14 89338680 [A/G] NM_144596,NM_198309,NM_198310 TTC8,TTC8,TTC8 EXON Missense_G411R,Missense_G401R,Missense_G371R exm1120062 14 89338702 [A/G] NM_144596,NM_198309,NM_198310 TTC8,TTC8,TTC8 EXON Missense_Q418R,Missense_Q408R,Missense_Q378R exm1120065 14 89338743 [A/G] NM_144596,NM_198309,NM_198310 TTC8,TTC8,TTC8 EXON Missense_E432K,Missense_E422K,Missense_E392K exm1120066 14 89338776 [T/C] NM_144596,NM_198309,NM_198310 TTC8,TTC8,TTC8 EXON Missense_R443W,Missense_R433W,Missense_R403W exm1120070 14 89341404 [T/C] NM_144596,NM_198309,NM_198310 TTC8,TTC8,TTC8 EXON Missense_A461V,Missense_A451V,Missense_A421V exm2267679 14 89574193 [A/G] exm1120093 14 89628988 [T/C] NM_005197,NM_001085471 FOXN3,FOXN3 EXON Missense_A393T,Missense_A415T exm1120107 14 89629090 [T/C] NM_005197,NM_001085471 FOXN3,FOXN3 EXON Missense_E359K,Missense_E381K exm1120108 14 89629136 [C/G] NM_005197,NM_001085471 FOXN3,FOXN3 EXON Missense_H343Q,Missense_H365Q exm1120114 14 89629194 [T/C] NM_005197,NM_001085471 FOXN3,FOXN3 EXON Missense_R324Q,Missense_R346Q exm1120117 14 89647052 [C/G] NM_005197,NM_001085471 FOXN3,FOXN3 EXON Missense_A282P,Missense_A304P exm1120120 14 89647087 [T/C] NM_005197,NM_001085471 FOXN3,FOXN3 EXON Missense_R270Q,Missense_R292Q exm1120124 14 89647121 [A/G] NM_005197,NM_001085471 FOXN3,FOXN3 EXON Missense_R259W,Missense_R281W exm1120126 14 89656772 [T/C] NM_005197,NM_001085471 FOXN3,FOXN3 EXON Silent,Missense_S256N exm1120157 14 89878748 [A/G] NM_005197,NM_001085471 FOXN3,FOXN3 EXON Missense_C25R,Missense_C25R exm-rs8020333 14 90034849 [T/C] NM_001085471 FOXN3 Silent exm-rs17776811 14 90066451 [A/C] NM_001085471 FOXN3 Silent exm2251984 14 90268067 [A/G] NM_145231 EFCAB11 Silent exm-rs12100561 14 90301035 [A/G] NM_145231 EFCAB11 Silent exm1120164 14 90397912 [A/G] NM_145231 EFCAB11 EXON Missense_P128L exm1120165 14 90397956 [G/C] NM_145231 EFCAB11 EXON Missense_L113F exm1822004 14 90398947 [T/C] NM_145231 EFCAB11 EXON Missense_N81S exm1120171 14 90398957 [T/C] NM_145231 EFCAB11 EXON Missense_G78R exm1120172 14 90398960 [T/C] NM_145231 EFCAB11 EXON Missense_E77K exm1120181 14 90420329 [T/C] NM_145231 EFCAB11 EXON Missense_D31G exm1120184 14 90420961 [A/G] NM_145231 EFCAB11 EXON Missense_A15V exm1120195 14 90429595 [A/G] NM_018319,NM_001008744 TDP1,TDP1 EXON Missense_Y46C,Missense_Y46C exm1120199 14 90429638 [A/G] NM_018319,NM_001008744 TDP1,TDP1 EXON Missense_I60M,Missense_I60M exm1120201 14 90429666 [A/T] NM_018319,NM_001008744 TDP1,TDP1 EXON Missense_S70T,Missense_S70T exm1120204 14 90429694 [C/G] NM_018319,NM_001008744 TDP1,TDP1 EXON Missense_S79T,Missense_S79T exm1120208 14 90429743 [T/G] NM_018319,NM_001008744 TDP1,TDP1 EXON Missense_E95D,Missense_E95D exm2260384 14 90429749 [A/G] NM_018319,NM_001008744 TDP1,TDP1 EXON Synonymous_Q97Q,Synonymous_Q97Q exm1120212 14 90429760 [T/C] NM_018319,NM_001008744 TDP1,TDP1 EXON Missense_P101L,Missense_P101L exm2222863 14 90429796 [A/G] NM_018319,NM_001008744 TDP1,TDP1 EXON Missense_E113G,Missense_E113G exm1120216 14 90429858 [A/G] NM_018319,NM_001008744 TDP1,TDP1 EXON Missense_A134T,Missense_A134T exm1120226 14 90433762 [T/C] NM_018319,NM_001008744 TDP1,TDP1 EXON Missense_F219L,Missense_F219L exm1120228 14 90437521 [A/C] NM_018319,NM_001008744 TDP1,TDP1 EXON Missense_K221T,Missense_K221T exm1120232 14 90442125 [A/G] NM_018319,NM_001008744 TDP1,TDP1 EXON Missense_A253T,Missense_A253T exm1120233 14 90442132 [T/C] NM_018319,NM_001008744 TDP1,TDP1 EXON Missense_L255S,Missense_L255S exm1120239 14 90450886 [A/G] NM_018319,NM_001008744 TDP1,TDP1 EXON Missense_R304Q,Missense_R304Q exm1120253 14 90455282 [A/G] NM_018319,NM_001008744 TDP1,TDP1 EXON Missense_A389T,Missense_A389T exm1120256 14 90455366 [A/G] NM_018319,NM_001008744 TDP1,TDP1 EXON Missense_K417E,Missense_K417E exm1120262 14 90455434 [T/G] NM_018319,NM_001008744 TDP1,TDP1 EXON Missense_L439F,Missense_L439F exm1120268 14 90456086 [A/G] NM_018319,NM_001008744 TDP1,TDP1 EXON Missense_R448Q,Missense_R448Q exm1120277 14 90485661 [A/G] NM_018319,NM_001008744 TDP1,TDP1 EXON Missense_A515T,Missense_A515T exm1120286 14 90499510 [A/G] NM_018319,NM_001008744 TDP1,TDP1 EXON Missense_T569A,Missense_T569A exm1120287 14 90499540 [A/G] NM_018319,NM_001008744 TDP1,TDP1 EXON Missense_E579K,Missense_E579K exm1120288 14 90499552 [A/G] NM_018319,NM_001008744 TDP1,TDP1 EXON Missense_S583G,Missense_S583G exm1120310 14 90650514 [T/C] NM_022054 KCNK13 EXON Missense_L132F exm1120312 14 90650548 [A/G] NM_022054 KCNK13 EXON Missense_N143S exm1120314 14 90650586 [A/G] NM_022054 KCNK13 EXON Missense_I156V exm1120316 14 90650607 [T/C] NM_022054 KCNK13 EXON Missense_R163W exm1120328 14 90650765 [A/G] NM_022054 KCNK13 EXON Missense_M215I exm1120329 14 90650776 [T/C] NM_022054 KCNK13 EXON Missense_I219T exm1120332 14 90650865 [A/G] NM_022054 KCNK13 EXON Missense_A249T exm1120337 14 90651033 [A/G] NM_022054 KCNK13 EXON Missense_G305R exm1120340 14 90651049 [A/G] NM_022054 KCNK13 EXON Missense_R310H exm1120341 14 90651056 [A/C] NM_022054 KCNK13 EXON Missense_N312K exm1120342 14 90651075 [A/G] NM_022054 KCNK13 EXON Missense_V319I exm1120345 14 90651111 [A/G] NM_022054 KCNK13 EXON Missense_G331R exm1120346 14 90651120 [G/C] NM_022054 KCNK13 EXON Missense_E334Q exm1120360 14 90651286 [C/G] NM_022054 KCNK13 EXON Missense_G389A exm-rs8017423 14 90679910 [T/C] exm1120407 14 90744776 [T/G] NM_017970 NRDE2 EXON Missense_F1133L exm1120408 14 90744787 [T/C] NM_017970 NRDE2 EXON Missense_V1130M exm1120410 14 90745422 [T/C] NM_017970 NRDE2 EXON Missense_N1118S exm1120414 14 90752734 [A/C] NM_017970 NRDE2 EXON Missense_Q1087H exm1120418 14 90752754 [A/G] NM_017970 NRDE2 EXON Missense_R1081C exm1120420 14 90752814 [T/C] NM_017970 NRDE2 EXON Missense_A1061T exm1120422 14 90752829 [T/C] NM_017970 NRDE2 EXON Missense_G1056S exm1120426 14 90754607 [T/C] NM_017970 NRDE2 EXON Missense_I1038V exm1120432 14 90754768 [T/C] NM_017970 NRDE2 EXON Missense_R984Q exm1120444 14 90754926 [A/C] NM_017970 NRDE2 EXON Missense_F931L exm1120446 14 90754937 [T/C] NM_017970 NRDE2 EXON Missense_E928K exm1120447 14 90754967 [T/C] NM_017970 NRDE2 EXON Missense_I918V exm1120452 14 90755014 [T/C] NM_017970 NRDE2 EXON Missense_R902H exm1120453 14 90755015 [A/G] NM_017970 NRDE2 EXON Missense_R902C exm1822123 14 90755027 [T/C] NM_017970 NRDE2 EXON Missense_D898N exm1120467 14 90755213 [T/G] NM_017970 NRDE2 EXON Missense_P836T exm1120472 14 90755317 [T/C] NM_017970 NRDE2 EXON Missense_K801R exm1120479 14 90756609 [T/G] NM_017970 NRDE2 EXON Missense_K729Q exm1120490 14 90756819 [G/C] NM_017970 NRDE2 EXON Missense_L659V exm1120493 14 90756862 [G/C] NM_017970 NRDE2 EXON Missense_L644F exm1120494 14 90756870 [A/G] NM_017970 NRDE2 EXON Nonsense_Q642X exm-rs2282032 14 90758891 [T/G] NM_017970 NRDE2 Silent exm1120505 14 90764612 [A/C] NM_017970 NRDE2 EXON Missense_I553S exm2251988 14 90764650 [C/G] NM_017970 NRDE2 EXON Synonymous_A540A exm1120510 14 90767609 [T/C] NM_017970 NRDE2 EXON Missense_V507M exm1120513 14 90767623 [A/G] NM_017970 NRDE2 EXON Missense_F502S exm1120533 14 90770316 [T/C] NM_017970 NRDE2 EXON Missense_R323Q exm1120539 14 90770433 [T/C] NM_017970 NRDE2 EXON Missense_Q284R exm1120540 14 90770442 [T/C] NM_017970 NRDE2 EXON Missense_H281R exm1120542 14 90770476 [A/T] NM_017970 NRDE2 EXON Missense_N270Y exm1120543 14 90770485 [T/C] NM_017970 NRDE2 EXON Missense_T267A exm1120544 14 90770487 [A/G] NM_017970 NRDE2 EXON Missense_T266I exm1120546 14 90770496 [C/G] NM_017970 NRDE2 EXON Missense_A263G exm1120547 14 90770499 [A/G] NM_017970 NRDE2 EXON Missense_A262V exm1822150 14 90778748 [T/C] NM_017970 NRDE2 EXON Missense_D183N exm1120575 14 90783036 [G/C] NM_017970 NRDE2 EXON Missense_T98R exm1120577 14 90784358 [A/G] NM_017970 NRDE2 EXON Missense_P55L exm1120579 14 90784412 [A/G] NM_017970 NRDE2 EXON Missense_T37M exm1120581 14 90784418 [T/G] NM_017970 NRDE2 EXON Missense_S35Y exm1120582 14 90784427 [A/C] NM_017970 NRDE2 EXON Missense_C32F exm1120583 14 90784433 [T/C] NM_017970 NRDE2 EXON Missense_S30N exm1120587 14 90798244 [T/G] NM_017970 NRDE2 EXON Missense_A2E exm1822156 14 90798279 [T/C] NM_017970 NRDE2 EXON Silent exm2272131 14 90965383 [T/C] exm1120623 14 91007828 [T/C] NM_001010854 TTC7B EXON Missense_E806K exm1120662 14 91044536 [T/G] NM_001010854 TTC7B EXON Missense_L742I exm1120676 14 91059965 [T/C] NM_001010854 TTC7B EXON Missense_V658I exm1120691 14 91110531 [T/C] NM_001010854 TTC7B EXON Missense_V538I exm1120695 14 91113320 [C/G] NM_001010854 TTC7B EXON Missense_A522G exm2222873 14 91121338 [A/G] NM_001010854 TTC7B EXON Synonymous_D486D exm1120720 14 91146856 [A/G] NM_001010854 TTC7B EXON Missense_T325M exm1822212 14 91155912 [A/G] NM_001010854 TTC7B EXON Missense_R308W exm1120726 14 91155955 [T/A] NM_001010854 TTC7B EXON Missense_D293E exm1120743 14 91247120 [T/C] NM_001010854 TTC7B EXON Missense_Y136C exm1120746 14 91247156 [A/C] NM_001010854 TTC7B EXON Missense_G124V exm1120747 14 91247241 [C/G] NM_001010854 TTC7B EXON Missense_L96V exm1120752 14 91252559 [A/G] NM_001010854 TTC7B EXON Missense_R79C exm2251990 14 91252650 [A/G] NM_001010854 TTC7B EXON Synonymous_L48L exm1120765 14 91338468 [T/C] NM_004755 RPS6KA5 EXON Missense_D787N exm1120778 14 91341606 [A/C] NM_004755 RPS6KA5 EXON Missense_D645E exm2222876 14 91341698 [T/C] NM_004755 RPS6KA5 EXON Missense_M615V exm1120783 14 91341703 [T/C] NM_004755 RPS6KA5 EXON Missense_Y613C exm1120787 14 91357007 [T/C] NM_004755 RPS6KA5 EXON Missense_D554N exm1120796 14 91365693 [T/G] NM_004755,NM_182398 RPS6KA5,RPS6KA5 EXON Missense_H485N,Missense_H485N exm1120799 14 91366456 [T/C] NM_004755,NM_182398 RPS6KA5,RPS6KA5 EXON Missense_K459E,Missense_K459E exm1120803 14 91366563 [T/A] NM_004755,NM_182398 RPS6KA5,RPS6KA5 EXON Missense_Y423F,Missense_Y423F exm1120808 14 91369174 [T/C] NM_004755,NM_182398 RPS6KA5,RPS6KA5 EXON Missense_Q366R,Missense_Q366R exm1120822 14 91386577 [T/C] NM_004755,NM_182398 RPS6KA5,RPS6KA5 EXON Missense_E260G,Missense_E260G exm1120829 14 91409491 [A/C] NM_004755,NM_182398 RPS6KA5,RPS6KA5 EXON Missense_I183M,Missense_I183M exm1120835 14 91413836 [G/C] NM_004755,NM_182398 RPS6KA5,RPS6KA5 EXON Missense_E151D,Missense_E151D exm2272189 14 91450698 [T/C] NM_004755,NM_182398 RPS6KA5,RPS6KA5 Silent,Silent exm2267681 14 91489448 [A/G] NM_004755,NM_182398 RPS6KA5,RPS6KA5 Silent,Silent exm1120844 14 91526733 [A/C] NM_004755,NM_182398 RPS6KA5,RPS6KA5 EXON Missense_A16S,Missense_A16S exm1120851 14 91626666 [T/C] NM_024952,NM_001102366,NM_001102368,NM_001102369,NM_001102367 C14orf159,C14orf159,C14orf159,C14orf159,C14orf159 EXON Missense_R10C,Missense_R10C,Missense_R10C,Missense_R10C,Missense_R10C exm2274715 14 91626718 [G/C] NM_024952,NM_001102366,NM_001102368,NM_001102369,NM_001102367 C14orf159,C14orf159,C14orf159,C14orf159,C14orf159 EXON Missense_R27T,Missense_R27T,Missense_R27T,Missense_R27T,Missense_R27T exm1120875 14 91636532 [T/C] NM_024952,NM_001102366,NM_001102368,NM_001102369,NM_001102367 C14orf159,C14orf159,C14orf159,C14orf159,C14orf159 EXON Silent,Silent,Missense_A148V,Silent,Silent exm1120876 14 91639672 [T/C] NM_024952,NM_001102366,NM_001102368,NM_001102369,NM_001102367 C14orf159,C14orf159,C14orf159,C14orf159,C14orf159 EXON Missense_P161S,Missense_P161S,Missense_P166S,Missense_P161S,Missense_P161S exm1120883 14 91639744 [A/G] NM_024952,NM_001102366,NM_001102368,NM_001102369,NM_001102367 C14orf159,C14orf159,C14orf159,C14orf159,C14orf159 EXON Missense_G185R,Missense_G185R,Missense_G190R,Missense_G185R,Missense_G185R exm1120890 14 91642340 [C/G] NM_024952,NM_001102366,NM_001102368,NM_001102369,NM_001102367 C14orf159,C14orf159,C14orf159,C14orf159,C14orf159 EXON Missense_G219R,Missense_G219R,Missense_G224R,Missense_G207R,Missense_G219R exm1120891 14 91642346 [T/G] NM_024952,NM_001102366,NM_001102368,NM_001102369,NM_001102367 C14orf159,C14orf159,C14orf159,C14orf159,C14orf159 EXON Missense_V221F,Missense_V221F,Missense_V226F,Missense_V209F,Missense_V221F exm1120895 14 91642388 [G/C] NM_024952,NM_001102366,NM_001102368,NM_001102369,NM_001102367 C14orf159,C14orf159,C14orf159,C14orf159,C14orf159 EXON Missense_V235L,Missense_V235L,Missense_V240L,Missense_V223L,Missense_V235L exm1120896 14 91642395 [A/G] NM_024952,NM_001102366,NM_001102368,NM_001102369,NM_001102367 C14orf159,C14orf159,C14orf159,C14orf159,C14orf159 EXON Missense_S237N,Missense_S237N,Missense_S242N,Missense_S225N,Missense_S237N exm1120898 14 91647548 [T/C] NM_024952,NM_001102366,NM_001102368,NM_001102369,NM_001102367 C14orf159,C14orf159,C14orf159,C14orf159,C14orf159 EXON Missense_A245V,Missense_A245V,Missense_A250V,Missense_A233V,Missense_A245V exm1120899 14 91647565 [A/G] NM_024952,NM_001102366,NM_001102368,NM_001102369,NM_001102367 C14orf159,C14orf159,C14orf159,C14orf159,C14orf159 EXON Missense_T251A,Missense_T251A,Missense_T256A,Missense_T239A,Missense_T251A exm1120900 14 91647572 [T/C] NM_024952,NM_001102366,NM_001102368,NM_001102369,NM_001102367 C14orf159,C14orf159,C14orf159,C14orf159,C14orf159 EXON Missense_M253T,Missense_M253T,Missense_M258T,Missense_M241T,Missense_M253T exm1120906 14 91647674 [T/C] NM_024952,NM_001102366,NM_001102368,NM_001102369,NM_001102367 C14orf159,C14orf159,C14orf159,C14orf159,C14orf159 EXON Missense_A287V,Missense_A287V,Missense_A292V,Missense_A275V,Missense_A287V exm1120910 14 91655253 [A/G] NM_024952,NM_001102366,NM_001102368,NM_001102369,NM_001102367 C14orf159,C14orf159,C14orf159,C14orf159,C14orf159 Silent,Silent,Silent,Silent,Silent exm1120911 14 91655260 [A/G] NM_024952,NM_001102366,NM_001102368,NM_001102369,NM_001102367 C14orf159,C14orf159,C14orf159,C14orf159,C14orf159 EXON Missense_R309Q,Missense_R309Q,Missense_R314Q,Missense_R297Q,Missense_R309Q exm1120913 14 91655280 [T/C] NM_024952,NM_001102366,NM_001102368,NM_001102369,NM_001102367 C14orf159,C14orf159,C14orf159,C14orf159,C14orf159 EXON Missense_C316R,Missense_C316R,Missense_C321R,Missense_C304R,Missense_C316R exm1120915 14 91655334 [G/C] NM_024952,NM_001102366,NM_001102368,NM_001102369,NM_001102367 C14orf159,C14orf159,C14orf159,C14orf159,C14orf159 EXON Missense_L334V,Missense_L334V,Missense_L339V,Missense_L322V,Missense_L334V exm1120921 14 91655404 [G/C] NM_024952,NM_001102366,NM_001102368,NM_001102369,NM_001102367 C14orf159,C14orf159,C14orf159,C14orf159,C14orf159 EXON Missense_A357G,Missense_A357G,Missense_A362G,Missense_A345G,Missense_A357G exm1120923 14 91655448 [A/G] NM_024952,NM_001102366,NM_001102368,NM_001102369,NM_001102367 C14orf159,C14orf159,C14orf159,C14orf159,C14orf159 EXON Missense_A372T,Missense_A372T,Missense_A377T,Missense_A360T,Missense_A372T exm1120924 14 91655458 [T/G] NM_024952,NM_001102366,NM_001102368,NM_001102369,NM_001102367 C14orf159,C14orf159,C14orf159,C14orf159,C14orf159 EXON Missense_V375G,Missense_V375G,Missense_V380G,Missense_V363G,Missense_V375G exm1120925 14 91655469 [A/G] NM_024952,NM_001102366,NM_001102368,NM_001102369,NM_001102367 C14orf159,C14orf159,C14orf159,C14orf159,C14orf159 EXON Missense_A379T,Missense_A379T,Missense_A384T,Missense_A367T,Missense_A379T exm1120929 14 91662720 [T/C] NM_024952,NM_001102366,NM_001102368,NM_001102369,NM_001102367 C14orf159,C14orf159,C14orf159,C14orf159,C14orf159 EXON Synonymous_G394G,Synonymous_G394G,Synonymous_G399G,Synonymous_G382G,Synonymous_G394G exm1120940 14 91666127 [A/G] NM_024952,NM_001102366,NM_001102368,NM_001102369,NM_001102367 C14orf159,C14orf159,C14orf159,C14orf159,C14orf159 EXON Missense_R436H,Missense_R436H,Missense_R441H,Missense_R424H,Missense_R436H exm1120946 14 91666162 [A/G] NM_024952,NM_001102366,NM_001102368,NM_001102369,NM_001102367 C14orf159,C14orf159,C14orf159,C14orf159,C14orf159 EXON Missense_A448T,Missense_A448T,Missense_A453T,Missense_A436T,Missense_A448T exm1120954 14 91666248 [T/C] NM_024952,NM_001102366,NM_001102368,NM_001102369,NM_001102367 C14orf159,C14orf159,C14orf159,C14orf159,C14orf159 EXON Synonymous_T476T,Synonymous_T476T,Synonymous_T481T,Synonymous_T464T,Synonymous_T476T exm1120960 14 91671115 [T/C] NM_024952,NM_001102366,NM_001102368,NM_001102369,NM_001102367 C14orf159,C14orf159,C14orf159,C14orf159,C14orf159 EXON Missense_R499W,Missense_R499W,Missense_R504W,Silent,Missense_R499W exm1120961 14 91671116 [A/G] NM_024952,NM_001102366,NM_001102368,NM_001102369,NM_001102367 C14orf159,C14orf159,C14orf159,C14orf159,C14orf159 EXON Missense_R499Q,Missense_R499Q,Missense_R504Q,Silent,Missense_R499Q exm1120964 14 91671124 [A/G] NM_024952,NM_001102366,NM_001102368,NM_001102369,NM_001102367 C14orf159,C14orf159,C14orf159,C14orf159,C14orf159 EXON Missense_D502N,Missense_D502N,Missense_D507N,Silent,Missense_D502N exm1120967 14 91671139 [A/G] NM_024952,NM_001102366,NM_001102368,NM_001102369,NM_001102367 C14orf159,C14orf159,C14orf159,C14orf159,C14orf159 EXON Missense_D507N,Missense_D507N,Missense_D512N,Silent,Missense_D507N exm1120969 14 91671160 [A/G] NM_024952,NM_001102366,NM_001102368,NM_001102369,NM_001102367 C14orf159,C14orf159,C14orf159,C14orf159,C14orf159 EXON Missense_V514I,Missense_V514I,Missense_V519I,Silent,Missense_V514I exm1120972 14 91671166 [C/G] NM_024952,NM_001102366,NM_001102368,NM_001102369,NM_001102367 C14orf159,C14orf159,C14orf159,C14orf159,C14orf159 EXON Missense_A516P,Missense_A516P,Missense_A521P,Silent,Missense_A516P exm1120976 14 91681784 [A/G] NM_024952,NM_001102366,NM_001102368,NM_001102369,NM_001102367 C14orf159,C14orf159,C14orf159,C14orf159,C14orf159 EXON Missense_A529T,Missense_A529T,Missense_A534T,Missense_A477T,Missense_A529T exm1120992 14 91691074 [A/G] NM_024952,NM_001102366,NM_001102368,NM_001102369,NM_001102367 C14orf159,C14orf159,C14orf159,C14orf159,C14orf159 EXON Missense_G583D,Missense_G583D,Missense_G588D,Missense_G531D,Missense_G583D exm1120998 14 91691155 [T/A] NM_024952,NM_001102366,NM_001102368,NM_001102369,NM_001102367 C14orf159,C14orf159,C14orf159,C14orf159,C14orf159 EXON Missense_D610V,Missense_D610V,Missense_D615V,Missense_D558V,Missense_D610V exm1121000 14 91691164 [T/C] NM_024952,NM_001102366,NM_001102368,NM_001102369,NM_001102367 C14orf159,C14orf159,C14orf159,C14orf159,C14orf159 EXON Missense_T613M,Missense_T613M,Missense_T618M,Missense_T561M,Missense_T613M exm1121011 14 91700389 [A/C] NM_001177676,NM_003485 GPR68,GPR68 EXON Nonsense_E336X,Nonsense_E336X exm1121013 14 91700405 [T/A] NM_001177676,NM_003485 GPR68,GPR68 EXON Missense_K330N,Missense_K330N exm1121021 14 91700620 [T/C] NM_001177676,NM_003485 GPR68,GPR68 EXON Missense_D259N,Missense_D259N exm1121029 14 91700848 [A/G] NM_001177676,NM_003485 GPR68,GPR68 EXON Missense_R183C,Missense_R183C exm2276342 14 91701143 [A/G] NM_001177676,NM_003485 GPR68,GPR68 EXON Synonymous_H84H,Synonymous_H84H exm1121060 14 91701343 [T/C] NM_001177676,NM_003485 GPR68,GPR68 EXON Missense_T18A,Missense_T18A exm1822309 14 91739075 [A/C] NM_001080414 CCDC88C EXON Missense_R1994L exm1121074 14 91739076 [G/C] NM_001080414 CCDC88C EXON Missense_R1994G exm1121075 14 91739081 [A/G] NM_001080414 CCDC88C EXON Missense_L1992P exm1121096 14 91739478 [A/G] NM_001080414 CCDC88C EXON Missense_R1860W exm2274716 14 91739666 [T/C] NM_001080414 CCDC88C EXON Missense_R1797H exm1121108 14 91739675 [C/G] NM_001080414 CCDC88C EXON Missense_P1794R exm1121112 14 91739760 [T/C] NM_001080414 CCDC88C EXON Missense_V1766M exm1121117 14 91739873 [A/G] NM_001080414 CCDC88C EXON Missense_F1728S exm1121120 14 91739895 [T/C] NM_001080414 CCDC88C EXON Missense_G1721R exm1121122 14 91739940 [A/G] NM_001080414 CCDC88C EXON Missense_P1706S exm1121123 14 91739943 [T/C] NM_001080414 CCDC88C EXON Missense_D1705N exm1121126 14 91739969 [A/G] NM_001080414 CCDC88C EXON Missense_L1696P exm1121128 14 91739976 [T/C] NM_001080414 CCDC88C EXON Missense_D1694N exm1121134 14 91744348 [T/C] NM_001080414 CCDC88C EXON Missense_R1659Q exm1121141 14 91744435 [T/C] NM_001080414 CCDC88C EXON Missense_R1630H exm1121158 14 91747827 [A/G] NM_001080414 CCDC88C EXON Missense_F1558S exm1822328 14 91749682 [A/G] NM_001080414 CCDC88C EXON Missense_R1541C exm1121162 14 91749693 [T/C] NM_001080414 CCDC88C EXON Missense_R1537Q exm1121165 14 91749724 [T/C] NM_001080414 CCDC88C EXON Missense_T1527A exm1121169 14 91749765 [A/G] NM_001080414 CCDC88C EXON Missense_S1513L exm1121176 14 91755478 [T/C] NM_001080414 CCDC88C EXON Missense_R1471H exm1121177 14 91755506 [T/C] NM_001080414 CCDC88C EXON Missense_A1462T exm1121182 14 91755563 [T/C] NM_001080414 CCDC88C EXON Missense_A1443T exm1121185 14 91755625 [A/G] NM_001080414 CCDC88C EXON Missense_S1422L exm1121197 14 91760648 [A/G] NM_001080414 CCDC88C EXON Synonymous_L1327L exm2251992 14 91760648 [A/G] NM_001080414 CCDC88C EXON Synonymous_L1327L exm1121203 14 91763720 [A/G] NM_001080414 CCDC88C EXON Missense_R1299C exm1121217 14 91766410 [T/C] NM_001080414 CCDC88C EXON Missense_G1214S exm1121228 14 91770261 [T/C] NM_001080414 CCDC88C EXON Missense_Q1140R exm1121239 14 91772204 [T/C] NM_001080414 CCDC88C EXON Missense_V1088M exm1121240 14 91772206 [T/C] NM_001080414 CCDC88C EXON Missense_N1087S exm1121244 14 91772264 [A/C] NM_001080414 CCDC88C EXON Missense_A1068S exm1121248 14 91773447 [T/C] NM_001080414 CCDC88C EXON Missense_G1044S exm1121251 14 91773494 [A/G] NM_001080414 CCDC88C EXON Missense_A1028V exm1121253 14 91773549 [A/G] NM_001080414 CCDC88C EXON Missense_L1010F exm1121255 14 91774732 [A/G] NM_001080414 CCDC88C EXON Missense_A990V exm1121256 14 91774743 [T/C] NM_001080414 CCDC88C EXON Missense_M986I exm1121266 14 91779510 [T/C] NM_001080414 CCDC88C EXON Missense_G884S exm1121274 14 91779567 [T/C] NM_001080414 CCDC88C EXON Missense_V865I exm1121275 14 91779570 [T/C] NM_001080414 CCDC88C EXON Missense_A864T exm1121279 14 91779704 [T/C] NM_001080414 CCDC88C EXON Missense_D819G exm1121281 14 91779728 [T/G] NM_001080414 CCDC88C EXON Missense_A811E exm1121286 14 91779767 [A/G] NM_001080414 CCDC88C EXON Missense_A798V exm1121291 14 91779827 [G/C] NM_001080414 CCDC88C EXON Missense_S778T exm1121300 14 91779956 [T/C] NM_001080414 CCDC88C EXON Missense_R735H exm2222889 14 91780012 [T/C] NM_001080414 CCDC88C EXON Missense_M716I exm1822375 14 91780094 [G/C] NM_001080414 CCDC88C EXON Missense_S689C exm1121317 14 91780251 [C/G] NM_001080414 CCDC88C EXON Missense_L637V exm1121320 14 91780282 [G/C] NM_001080414 CCDC88C EXON Missense_K626N exm1121321 14 91780290 [T/G] NM_001080414 CCDC88C EXON Missense_K624Q exm1121329 14 91780445 [A/G] NM_001080414 CCDC88C EXON Missense_S572L exm2260387 14 91790566 [T/C] NM_001080414 CCDC88C Silent exm1121343 14 91791124 [A/G] NM_001080414 CCDC88C EXON Synonymous_D447D exm1822391 14 91792293 [C/G] NM_001080414 CCDC88C EXON Missense_E386D exm1121351 14 91792331 [A/G] NM_001080414 CCDC88C EXON Missense_R374W exm1121359 14 91804426 [A/C] NM_001080414 CCDC88C EXON Missense_V325L exm1121378 14 91805677 [C/G] NM_001080414 CCDC88C EXON Missense_L252V exm1121384 14 91806262 [T/C] NM_001080414 CCDC88C EXON Missense_R197Q exm1121398 14 91826004 [T/C] NM_001080414 CCDC88C EXON Missense_G108S exm1121414 14 91925103 [T/G] NM_032560 SMEK1 EXON Missense_X821Y exm1121424 14 91927766 [T/C] NM_032560 SMEK1 EXON Missense_V771I exm1121434 14 91927861 [A/G] NM_032560 SMEK1 EXON Missense_T739M exm2251995 14 91948043 [T/C] NM_032560 SMEK1 EXON Synonymous_T264T exm2251996 14 91975944 [A/G] NM_032560 SMEK1 EXON Synonymous_D16D exm2272132 14 92013263 [T/G] exm1121497 14 92040793 [G/C] exm1121509 14 92054322 [T/C] NM_024764 CATSPERB EXON Synonymous_K1019K exm1121511 14 92055954 [G/C] NM_024764 CATSPERB EXON Missense_E960D exm1822486 14 92076826 [T/G] NM_024764 CATSPERB EXON Missense_P866T exm1121542 14 92088086 [T/C] NM_024764 CATSPERB EXON Missense_R709Q exm1121543 14 92088115 [T/G] NM_024764 CATSPERB EXON Missense_F699L exm1121545 14 92088165 [T/C] NM_024764 CATSPERB EXON Missense_M683V exm1121548 14 92088206 [A/G] NM_024764 CATSPERB EXON Missense_T669I exm1121554 14 92091241 [T/C] NM_024764 CATSPERB EXON Missense_N618S exm1121561 14 92102772 [G/C] NM_024764 CATSPERB EXON Missense_S580C exm1121570 14 92105516 [T/C] NM_024764 CATSPERB EXON Missense_H504R exm1121575 14 92126237 [T/C] NM_024764 CATSPERB EXON Missense_Y459C exm1121579 14 92126304 [T/C] NM_024764 CATSPERB EXON Missense_G437S exm1121590 14 92139242 [T/C] NM_024764 CATSPERB EXON Missense_R366H exm1121595 14 92140545 [A/T] NM_024764 CATSPERB EXON Missense_F318Y exm1121602 14 92159495 [T/C] NM_024764 CATSPERB EXON Missense_R269H exm1121606 14 92159552 [A/G] NM_024764 CATSPERB EXON Missense_T250M exm1121607 14 92159558 [A/G] NM_024764 CATSPERB EXON Missense_V248A exm1121614 14 92159770 [A/G] NM_024764 CATSPERB EXON Missense_W224R exm1121618 14 92170962 [T/C] NM_024764 CATSPERB EXON Missense_V184M exm1121634 14 92195816 [A/G] NM_024764 CATSPERB EXON Missense_S3L exm1822539 14 92249535 [C/G] NM_001128595,NM_001128596,NM_152332 TC2N,TC2N,TC2N EXON Missense_S461T,Missense_S461T,Missense_S461T exm1121642 14 92251579 [C/G] NM_001128595,NM_001128596,NM_152332 TC2N,TC2N,TC2N EXON Missense_S430T,Missense_S430T,Missense_S430T exm1121651 14 92251697 [A/C] NM_001128595,NM_001128596,NM_152332 TC2N,TC2N,TC2N EXON Missense_V391L,Missense_V391L,Missense_V391L exm1121655 14 92253952 [T/G] NM_001128595,NM_001128596,NM_152332 TC2N,TC2N,TC2N EXON Missense_E356A,Missense_E356A,Missense_E356A exm1121661 14 92258796 [A/G] NM_001128595,NM_001128596,NM_152332 TC2N,TC2N,TC2N EXON Missense_I321T,Missense_I321T,Missense_I321T exm1121672 14 92264680 [T/G] NM_001128595,NM_001128596,NM_152332 TC2N,TC2N,TC2N EXON Missense_N234T,Missense_N234T,Missense_N234T exm1121685 14 92268615 [T/G] NM_001128595,NM_001128596,NM_152332 TC2N,TC2N,TC2N EXON Missense_K151T,Missense_K151T,Missense_K151T exm1121699 14 92278757 [A/G] NM_001128595,NM_001128596,NM_152332 TC2N,TC2N,TC2N EXON Missense_P67L,Missense_P67L,Missense_P67L exm1121701 14 92278829 [A/G] NM_001128595,NM_001128596,NM_152332 TC2N,TC2N,TC2N EXON Missense_V43A,Missense_V43A,Missense_V43A exm1121714 14 92336674 [T/C] NM_006329 FBLN5 EXON Missense_R414Q exm1121718 14 92336725 [A/G] NM_006329 FBLN5 EXON Missense_T397M exm1121727 14 92343923 [T/C] NM_006329 FBLN5 EXON Missense_I365V exm1121740 14 92349361 [T/C] NM_006329 FBLN5 EXON Missense_G267S exm1121751 14 92353655 [A/G] NM_006329 FBLN5 EXON Synonymous_D207D exm1121755 14 92357580 [T/C] NM_006329 FBLN5 EXON Missense_G202R exm2272133 14 92375615 [T/C] NM_006329 FBLN5 Silent exm1121764 14 92403294 [T/C] NM_006329 FBLN5 EXON Missense_V126M exm-rs7153027 14 92427222 [A/C] exm1121789 14 92436057 [T/C] NM_004239 TRIP11 EXON Missense_N1967S exm1121791 14 92436070 [T/C] NM_004239 TRIP11 EXON Missense_A1963T exm1121797 14 92436177 [A/G] NM_004239 TRIP11 EXON Missense_S1927L exm1121798 14 92436180 [T/C] NM_004239 TRIP11 EXON Missense_R1926H exm1121800 14 92439059 [A/G] NM_004239 TRIP11 Silent exm1121802 14 92439123 [A/G] NM_004239 TRIP11 EXON Missense_M1886T exm1121803 14 92439129 [T/C] NM_004239 TRIP11 EXON Missense_H1884R exm1121804 14 92439151 [T/G] NM_004239 TRIP11 EXON Missense_P1877T exm1121806 14 92441008 [A/G] NM_004239 TRIP11 EXON Missense_T1846I exm1121807 14 92441066 [T/C] NM_004239 TRIP11 EXON Missense_G1827S exm1121816 14 92442496 [A/C] NM_004239 TRIP11 EXON Missense_K1766N exm1822607 14 92454649 [T/C] NM_004239 TRIP11 EXON Missense_I1747V exm1121822 14 92454691 [T/C] NM_004239 TRIP11 EXON Missense_A1733T exm-rs8007661 14 92459958 [T/C] NM_004239 TRIP11 Silent exm1121826 14 92460164 [A/T] NM_004239 TRIP11 EXON Missense_I1717L exm1121827 14 92460176 [C/G] NM_004239 TRIP11 EXON Missense_E1713Q exm1121828 14 92460188 [T/C] NM_004239 TRIP11 EXON Missense_A1709T exm1121830 14 92460227 [T/C] NM_004239 TRIP11 EXON Missense_E1696K exm1121843 14 92465749 [T/C] NM_004239 TRIP11 EXON Missense_R1576H exm1121850 14 92469813 [T/C] NM_004239 TRIP11 EXON Missense_M1503V exm1822625 14 92470181 [A/G] NM_004239 TRIP11 EXON Missense_T1380I exm1121870 14 92470251 [T/G] NM_004239 TRIP11 EXON Missense_Q1357K exm1121871 14 92470257 [T/A] NM_004239 TRIP11 EXON Missense_S1355T exm1121891 14 92470716 [T/G] NM_004239 TRIP11 EXON Missense_N1202H exm1121896 14 92470845 [T/C] NM_004239 TRIP11 EXON Missense_I1159V exm1121901 14 92470940 [A/G] NM_004239 TRIP11 EXON Missense_A1127V exm1121905 14 92471105 [T/C] NM_004239 TRIP11 EXON Missense_H1072R exm1121909 14 92471200 [T/C] NM_004239 TRIP11 EXON Missense_I1040M exm1121910 14 92471202 [T/C] NM_004239 TRIP11 EXON Missense_I1040V exm1121912 14 92471220 [A/G] NM_004239 TRIP11 EXON Missense_L1034F exm1121915 14 92471238 [A/G] NM_004239 TRIP11 EXON Nonsense_R1028X exm1822637 14 92471456 [T/G] NM_004239 TRIP11 EXON Missense_T955N exm1121920 14 92471564 [A/G] NM_004239 TRIP11 EXON Missense_I919T exm1822638 14 92471600 [T/C] NM_004239 TRIP11 EXON Missense_H907R exm1121924 14 92471669 [T/C] NM_004239 TRIP11 EXON Missense_D884G exm1121927 14 92471822 [T/G] NM_004239 TRIP11 EXON Missense_K833T exm1121931 14 92471937 [C/G] NM_004239 TRIP11 EXON Missense_V795L exm1121933 14 92471954 [T/C] NM_004239 TRIP11 EXON Missense_H789R exm1121935 14 92471963 [T/G] NM_004239 TRIP11 EXON Missense_D786A exm1121940 14 92472017 [T/C] NM_004239 TRIP11 EXON Missense_N768S exm1121947 14 92472186 [T/C] NM_004239 TRIP11 EXON Missense_E712K exm1121949 14 92472218 [T/C] NM_004239 TRIP11 EXON Missense_N701S exm1121950 14 92472368 [A/G] NM_004239 TRIP11 EXON Missense_V651A exm1121953 14 92472416 [C/G] NM_004239 TRIP11 EXON Missense_S635C exm1121965 14 92472731 [T/C] NM_004239 TRIP11 EXON Missense_S530N exm1121970 14 92473994 [T/G] NM_004239 TRIP11 EXON Missense_E506A exm1121973 14 92474127 [A/C] NM_004239 TRIP11 EXON Missense_D462Y exm1121978 14 92477364 [A/G] NM_004239 TRIP11 EXON Missense_L427S exm1121979 14 92477376 [T/C] NM_004239 TRIP11 EXON Missense_R423H exm1121992 14 92480906 [A/G] NM_004239 TRIP11 EXON Missense_I280T exm-rs7155279 14 92485881 [T/G] NM_004239 TRIP11 Silent exm1122007 14 92488106 [A/C] NM_004239 TRIP11 EXON Missense_A128S exm1122010 14 92491659 [T/G] NM_004239 TRIP11 EXON Missense_K103Q exm1122014 14 92491749 [T/C] NM_004239 TRIP11 EXON Missense_K73E exm1122022 14 92505915 [A/T] NM_004239 TRIP11 EXON Missense_M39L exm1122026 14 92505969 [T/C] NM_004239 TRIP11 EXON Missense_G21S exm1122046 14 92537364 [T/C] NR_028469,NM_001164776,NM_001164777,NR_028459,NR_028458,NR_028463,NR_028462,NR_028461,NR_028453,NR_028457,NR_028467,NR_028466,NM_001164778,NM_030660,NM_001164780,NM_001127697,NR_028454,NM_001164782,NM_004993,NM_001164781,NR_028464,NR_028455,NR_028468,NM_001164779,NR_028460,NR_028456,NM_001164774,NR_028465,NR_031765,NM_001127696,NR_028470 ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3 EXON Silent,Missense_A90T,Missense_A35T,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_A141T,Synonymous_Q247Q,Synonymous_Q123Q,Synonymous_Q251Q,Silent,Missense_A20T,Synonymous_Q302Q,Synonymous_Q232Q,Silent,Silent,Silent,Synonymous_Q181Q,Silent,Silent,Missense_A75T,Silent,Silent,Synonymous_Q287Q,Silent exm1122047 14 92537379 [T/C] NR_028469,NM_001164776,NM_001164777,NR_028459,NR_028458,NR_028463,NR_028462,NR_028461,NR_028453,NR_028457,NR_028467,NR_028466,NM_001164778,NM_030660,NM_001164780,NM_001127697,NR_028454,NM_001164782,NM_004993,NM_001164781,NR_028464,NR_028455,NR_028468,NM_001164779,NR_028460,NR_028456,NM_001164774,NR_028465,NR_031765,NM_001127696,NR_028470 ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3 EXON Silent,Missense_T85A,Missense_T30A,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_T136A,Synonymous_Q242Q,Synonymous_Q118Q,Synonymous_Q246Q,Silent,Missense_T15A,Synonymous_Q297Q,Synonymous_Q227Q,Silent,Silent,Silent,Synonymous_Q176Q,Silent,Silent,Missense_T70A,Silent,Silent,Synonymous_Q282Q,Silent exm1122055 14 92547327 [T/C] NR_028469,NM_001164776,NM_001164777,NR_028459,NR_028458,NR_028463,NR_028462,NR_028461,NR_028453,NR_028457,NR_028467,NR_028466,NM_001164778,NM_030660,NM_001164780,NM_001127697,NR_028454,NM_001164782,NM_004993,NM_001164781,NR_028464,NR_028455,NR_028468,NM_001164779,NR_028460,NR_028456,NM_001164774,NR_028465,NR_031765,NM_001127696,NR_028470 ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_R230Q,Missense_R106Q,Missense_R234Q,Silent,Silent,Missense_R285Q,Missense_R215Q,Silent,Silent,Silent,Missense_R164Q,Silent,Silent,Silent,Silent,Silent,Missense_R270Q,Silent exm1122056 14 92547336 [T/C] NR_028469,NM_001164776,NM_001164777,NR_028459,NR_028458,NR_028463,NR_028462,NR_028461,NR_028453,NR_028457,NR_028467,NR_028466,NM_001164778,NM_030660,NM_001164780,NM_001127697,NR_028454,NM_001164782,NM_004993,NM_001164781,NR_028464,NR_028455,NR_028468,NM_001164779,NR_028460,NR_028456,NM_001164774,NR_028465,NR_031765,NM_001127696,NR_028470 ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_R227Q,Missense_R103Q,Missense_R231Q,Silent,Silent,Missense_R282Q,Missense_R212Q,Silent,Silent,Silent,Missense_R161Q,Silent,Silent,Silent,Silent,Silent,Missense_R267Q,Silent exm2251999 14 92548696 [A/G] NR_028469,NM_001164776,NM_001164777,NR_028459,NR_028458,NR_028463,NR_028462,NR_028461,NR_028453,NR_028457,NR_028467,NR_028466,NM_001164778,NM_030660,NM_001164780,NM_001127697,NR_028454,NM_001164782,NM_004993,NM_001164781,NR_028464,NR_028455,NR_028468,NM_001164779,NR_028460,NR_028456,NM_001164774,NR_028465,NR_031765,NM_001127696,NR_028470 ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Synonymous_D186D,Synonymous_D62D,Synonymous_D190D,Silent,Silent,Synonymous_D241D,Synonymous_D171D,Silent,Silent,Silent,Synonymous_D120D,Silent,Silent,Silent,Silent,Silent,Synonymous_D226D,Silent exm1122066 14 92548747 [T/G] NR_028469,NM_001164776,NM_001164777,NR_028459,NR_028458,NR_028463,NR_028462,NR_028461,NR_028453,NR_028457,NR_028467,NR_028466,NM_001164778,NM_030660,NM_001164780,NM_001127697,NR_028454,NM_001164782,NM_004993,NM_001164781,NR_028464,NR_028455,NR_028468,NM_001164779,NR_028460,NR_028456,NM_001164774,NR_028465,NR_031765,NM_001127696,NR_028470 ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_E169D,Missense_E45D,Missense_E173D,Silent,Silent,Missense_E224D,Missense_E154D,Silent,Silent,Silent,Missense_E103D,Silent,Silent,Silent,Silent,Silent,Missense_E209D,Silent exm1122069 14 92548785 [T/C] NR_028469,NM_001164776,NM_001164777,NR_028459,NR_028458,NR_028463,NR_028462,NR_028461,NR_028453,NR_028457,NR_028467,NR_028466,NM_001164778,NM_030660,NM_001164780,NM_001127697,NR_028454,NM_001164782,NM_004993,NM_001164781,NR_028464,NR_028455,NR_028468,NM_001164779,NR_028460,NR_028456,NM_001164774,NR_028465,NR_031765,NM_001127696,NR_028470 ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_V157M,Missense_V33M,Missense_V161M,Silent,Silent,Missense_V212M,Missense_V142M,Silent,Silent,Silent,Missense_V91M,Silent,Silent,Silent,Silent,Silent,Missense_V197M,Silent exm1122073 14 92549495 [T/C] NR_028469,NM_001164776,NM_001164777,NR_028459,NR_028458,NR_028463,NR_028462,NR_028461,NR_028453,NR_028457,NR_028467,NR_028466,NM_001164778,NM_030660,NM_001164780,NM_001127697,NR_028454,NM_001164782,NM_004993,NM_001164781,NR_028464,NR_028455,NR_028468,NM_001164779,NR_028460,NR_028456,NM_001164774,NR_028465,NR_031765,NM_001127696,NR_028470 ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_E140K,Missense_E16K,Missense_E144K,Silent,Silent,Missense_E195K,Missense_E125K,Silent,Silent,Silent,Missense_E74K,Silent,Silent,Silent,Silent,Silent,Missense_E180K,Silent exm1122077 14 92549596 [C/G] NR_028469,NM_001164776,NM_001164777,NR_028459,NR_028458,NR_028463,NR_028462,NR_028461,NR_028453,NR_028457,NR_028467,NR_028466,NM_001164778,NM_030660,NM_001164780,NM_001127697,NR_028454,NM_001164782,NM_004993,NM_001164781,NR_028464,NR_028455,NR_028468,NM_001164779,NR_028460,NR_028456,NM_001164774,NR_028465,NR_031765,NM_001127696,NR_028470 ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_S106C,Silent,Missense_S110C,Silent,Silent,Missense_S161C,Missense_S91C,Silent,Silent,Silent,Missense_S40C,Silent,Silent,Silent,Silent,Silent,Missense_S146C,Silent exm1122116 14 92583867 [A/G] NM_004545 NDUFB1 EXON Missense_R86W exm1122117 14 92583881 [T/C] NM_004545 NDUFB1 EXON Missense_R81Q exm1122122 14 92588018 [C/G] NM_004545 NDUFB1 EXON Missense_G35A exm1122124 14 92588049 [G/C] NM_004545 NDUFB1 EXON Missense_L25V exm1122153 14 92609397 [A/G] NM_017437 CPSF2 EXON Missense_N300S exm1122163 14 92622956 [A/G] NM_017437 CPSF2 EXON Missense_T526A exm2252000 14 92624111 [A/G] NM_017437 CPSF2 EXON Synonymous_P568P exm1822730 14 92627568 [A/G] NM_017437 CPSF2 EXON Missense_N745S exm-rs1009170 14 92636713 [T/A] exm2252001 14 92765354 [A/G] exm-rs12896399 14 92773663 [T/G] exm1122198 14 92792313 [A/G] NM_153648,NM_153647,NM_153646 SLC24A4,SLC24A4,SLC24A4 EXON Missense_T14A,Missense_T78A,Missense_T78A exm1122199 14 92900256 [T/C] NM_153648,NM_153647,NM_153646 SLC24A4,SLC24A4,SLC24A4 EXON Missense_A17V,Missense_A81V,Missense_A81V exm1122200 14 92900257 [A/G] NM_153648,NM_153647,NM_153646 SLC24A4,SLC24A4,SLC24A4 EXON Synonymous_A17A,Synonymous_A81A,Synonymous_A81A exm1122202 14 92900298 [A/G] NM_153648,NM_153647,NM_153646 SLC24A4,SLC24A4,SLC24A4 EXON Missense_R31Q,Missense_R95Q,Missense_R95Q exm1122218 14 92909143 [A/G] NM_153648,NM_153647,NM_153646 SLC24A4,SLC24A4,SLC24A4 EXON Missense_G125R,Missense_G189R,Missense_G189R exm1122219 14 92909159 [A/C] NM_153648,NM_153647,NM_153646 SLC24A4,SLC24A4,SLC24A4 EXON Missense_Q130P,Missense_Q194P,Missense_Q194P exm1122220 14 92909750 [T/C] NM_153648,NM_153647,NM_153646 SLC24A4,SLC24A4,SLC24A4 EXON Missense_R133C,Missense_R197C,Missense_R197C exm1122224 14 92909816 [A/G] NM_153648,NM_153647,NM_153646 SLC24A4,SLC24A4,SLC24A4 EXON Missense_V155M,Missense_V219M,Missense_V219M exm1122232 14 92915440 [T/C] NM_153648,NM_153647,NM_153646 SLC24A4,SLC24A4,SLC24A4 EXON Missense_F190L,Missense_F254L,Missense_F254L exm1122236 14 92915542 [A/G] NM_153648,NM_153647,NM_153646 SLC24A4,SLC24A4,SLC24A4 EXON Missense_V224M,Silent,Missense_V288M exm1122237 14 92915559 [A/G] NM_153648,NM_153647,NM_153646 SLC24A4,SLC24A4,SLC24A4 EXON Synonymous_Q229Q,Silent,Synonymous_Q293Q exm1122239 14 92920262 [A/G] NM_153648,NM_153647,NM_153646 SLC24A4,SLC24A4,SLC24A4 EXON Missense_Y236C,Missense_Y281C,Missense_Y300C exm1122246 14 92920412 [A/G] NM_153648,NM_153647,NM_153646 SLC24A4,SLC24A4,SLC24A4 EXON Missense_E286G,Missense_E331G,Missense_E350G exm1122249 14 92922748 [T/C] NM_153648,NM_153647,NM_153646 SLC24A4,SLC24A4,SLC24A4 EXON Missense_R287W,Missense_R332W,Missense_R351W exm1122252 14 92922782 [A/G] NM_153648,NM_153647,NM_153646 SLC24A4,SLC24A4,SLC24A4 EXON Missense_S298N,Missense_S343N,Missense_S362N exm1122258 14 92922831 [A/T] NM_153648,NM_153647,NM_153646 SLC24A4,SLC24A4,SLC24A4 EXON Missense_N314K,Missense_N359K,Missense_N378K exm1122261 14 92922881 [T/C] NM_153648,NM_153647,NM_153646 SLC24A4,SLC24A4,SLC24A4 EXON Missense_P331L,Missense_P376L,Missense_P395L exm1122270 14 92949111 [A/G] NM_153648,NM_153647,NM_153646 SLC24A4,SLC24A4,SLC24A4 EXON Missense_R384H,Missense_R429H,Missense_R448H exm1122271 14 92949123 [A/T] NM_153648,NM_153647,NM_153646 SLC24A4,SLC24A4,SLC24A4 EXON Missense_F388Y,Missense_F433Y,Missense_F452Y exm1122275 14 92949146 [A/G] NM_153648,NM_153647,NM_153646 SLC24A4,SLC24A4,SLC24A4 EXON Missense_A396T,Missense_A441T,Missense_A460T exm1122283 14 92953116 [T/C] NM_153648,NM_153647,NM_153646 SLC24A4,SLC24A4,SLC24A4 EXON Missense_A446V,Missense_A491V,Missense_A510V exm1122288 14 92958099 [T/C] NM_153648,NM_153647,NM_153646 SLC24A4,SLC24A4,SLC24A4 EXON Missense_M479T,Missense_M524T,Missense_M543T exm1122292 14 92958522 [A/C] NM_153648,NM_153647,NM_153646 SLC24A4,SLC24A4,SLC24A4 EXON Missense_K488Q,Missense_K533Q,Missense_K552Q exm1122294 14 92958552 [A/G] NM_153648,NM_153647,NM_153646 SLC24A4,SLC24A4,SLC24A4 EXON Missense_V498M,Missense_V543M,Missense_V562M exm1122297 14 92958584 [T/C] NM_153648,NM_153647,NM_153646 SLC24A4,SLC24A4,SLC24A4 EXON Synonymous_T508T,Synonymous_T553T,Synonymous_T572T exm1122303 14 92959857 [A/G] NM_153648,NM_153647,NM_153646 SLC24A4,SLC24A4,SLC24A4 EXON Missense_R521Q,Missense_R566Q,Missense_R585Q exm1122307 14 92959910 [A/G] NM_153648,NM_153647,NM_153646 SLC24A4,SLC24A4,SLC24A4 EXON Missense_I539V,Missense_I584V,Missense_I603V exm1122308 14 92959940 [A/G] NM_153648,NM_153647,NM_153646 SLC24A4,SLC24A4,SLC24A4 EXON Missense_V549I,Missense_V594I,Missense_V613I exm-rs4904947 14 92972162 [T/C] exm2272191 14 92987358 [T/C] NM_024832 RIN3 Silent exm1122324 14 93022148 [T/C] NM_024832 RIN3 EXON Missense_R33W exm1122328 14 93022233 [T/C] NM_024832 RIN3 EXON Missense_P61L exm1122329 14 93022240 [T/G] NM_024832 RIN3 EXON Missense_W63C exm1122333 14 93022286 [T/C] NM_024832 RIN3 EXON Missense_R79W exm1122334 14 93022287 [A/G] NM_024832 RIN3 EXON Missense_R79Q exm1122336 14 93043718 [A/G] NM_024832 RIN3 EXON Missense_R88H exm1122337 14 93043720 [T/C] NM_024832 RIN3 EXON Missense_R89W exm1122338 14 93043721 [A/G] NM_024832 RIN3 EXON Missense_R89Q exm1122346 14 93043786 [A/G] NM_024832 RIN3 EXON Missense_E111K exm1122350 14 93043804 [A/G] NM_024832 RIN3 EXON Missense_I117V exm-rs10498635 14 93103309 [T/C] NM_024832 RIN3 Silent exm1122356 14 93117953 [T/C] NM_024832 RIN3 EXON Missense_P187S exm1122358 14 93117992 [T/C] NM_024832 RIN3 EXON Missense_R200W exm1122363 14 93118038 [A/G] NM_024832 RIN3 EXON Missense_H215R exm1122371 14 93118145 [A/C] NM_024832 RIN3 EXON Missense_Q251K exm1122387 14 93118410 [T/G] NM_024832 RIN3 EXON Missense_M339R exm1122389 14 93118469 [A/G] NM_024832 RIN3 EXON Missense_M359V exm1122400 14 93118563 [A/G] NM_024832 RIN3 EXON Missense_R390H exm1122401 14 93118565 [A/G] NM_024832 RIN3 EXON Missense_V391I exm1122406 14 93118599 [T/C] NM_024832 RIN3 EXON Missense_P402L exm1122411 14 93118668 [T/C] NM_024832 RIN3 EXON Missense_T425M exm1122420 14 93118790 [A/C] NM_024832 RIN3 EXON Missense_I466L exm1122421 14 93118797 [A/G] NM_024832 RIN3 EXON Missense_R468Q exm1122424 14 93118823 [T/C] NM_024832 RIN3 EXON Missense_P477S exm1122435 14 93119093 [A/G] NM_024832 RIN3 EXON Missense_V567M exm1122438 14 93119171 [A/G] NM_024832 RIN3 EXON Missense_A593T exm1122440 14 93119190 [A/G] NM_024832 RIN3 EXON Missense_R599H exm1122441 14 93119232 [G/C] NM_024832 RIN3 EXON Missense_G613A exm1122447 14 93119307 [T/C] NM_024832 RIN3 EXON Missense_T638M exm1122453 14 93119396 [A/G] NM_024832 RIN3 EXON Missense_A668T exm1122456 14 93125514 [A/G] NM_024832 RIN3 EXON Missense_V679I exm2252002 14 93138041 [T/C] NM_024832 RIN3 Silent exm1122469 14 93142861 [T/C] NM_024832 RIN3 EXON Missense_Y793H exm1122470 14 93142873 [T/C] NM_024832 RIN3 EXON Missense_R797C exm1822813 14 93151490 [A/G] NM_024832 RIN3 EXON Missense_V876I exm1122490 14 93154487 [A/C] NM_024832 RIN3 EXON Missense_S950R exm1122505 14 93170994 [A/G] NM_005606,NM_001008530 LGMN,LGMN EXON Missense_P417L,Missense_P417L exm1122508 14 93171019 [T/C] NM_005606,NM_001008530 LGMN,LGMN EXON Missense_V409I,Missense_V409I exm1122509 14 93171025 [T/C] NM_005606,NM_001008530 LGMN,LGMN EXON Missense_V407M,Missense_V407M exm1122511 14 93171033 [T/C] NM_005606,NM_001008530 LGMN,LGMN EXON Missense_H404R,Missense_H404R exm1122515 14 93172898 [A/G] NM_005606,NM_001008530 LGMN,LGMN EXON Missense_T374M,Missense_T374M exm1122522 14 93172971 [A/G] NM_005606,NM_001008530 LGMN,LGMN EXON Missense_R350C,Missense_R350C exm1122526 14 93176042 [A/G] NM_005606,NM_001008530 LGMN,LGMN EXON Missense_T332M,Missense_T332M exm1122530 14 93176153 [A/G] NM_005606,NM_001008530 LGMN,LGMN EXON Missense_P295L,Missense_P295L exm1122546 14 93178279 [T/G] NM_005606,NM_001008530 LGMN,LGMN EXON Missense_N211T,Missense_N211T exm1122568 14 93185114 [T/C] NM_005606,NM_001008530 LGMN,LGMN EXON Missense_D72N,Missense_D72N exm1122570 14 93185129 [T/C] NM_005606,NM_001008530 LGMN,LGMN EXON Missense_V67I,Missense_V67I exm1122588 14 93263964 [T/C] NM_005113 GOLGA5 EXON Missense_T61M exm1122589 14 93263982 [G/C] NM_005113 GOLGA5 EXON Missense_A67G exm1122592 14 93264059 [A/G] NM_005113 GOLGA5 EXON Missense_E93K exm1822862 14 93264183 [G/C] NM_005113 GOLGA5 EXON Missense_P134R exm1122606 14 93273171 [A/C] NM_005113 GOLGA5 EXON Missense_T212N exm1122617 14 93275714 [A/G] NM_005113 GOLGA5 EXON Missense_R281Q exm1122619 14 93275723 [A/G] NM_005113 GOLGA5 EXON Missense_R284Q exm1122623 14 93276654 [T/C] NM_005113 GOLGA5 EXON Missense_F350L exm1822876 14 93276667 [T/C] NM_005113 GOLGA5 EXON Missense_L354P exm1122628 14 93277899 [A/G] NM_005113 GOLGA5 EXON Missense_E374K exm1122630 14 93277918 [A/G] NM_005113 GOLGA5 EXON Missense_N380S exm1122642 14 93282731 [A/G] NM_005113 GOLGA5 EXON Missense_M486V exm2222918 14 93286090 [T/C] NM_005113 GOLGA5 EXON Missense_A510V exm1122653 14 93290907 [A/G] NM_005113 GOLGA5 EXON Missense_E546G exm1122657 14 93290938 [C/G] NM_005113 GOLGA5 EXON Missense_L556F exm1822892 14 93299522 [A/G] NM_005113 GOLGA5 EXON Missense_H592R exm1122674 14 93299684 [A/G] NM_005113 GOLGA5 EXON Missense_N646S exm1122675 14 93299686 [A/G] NM_005113 GOLGA5 EXON Missense_G647S exm1122699 14 93392980 [A/G] NM_001275 CHGA EXON Missense_D42N exm1122700 14 93392986 [A/C] NM_001275 CHGA EXON Missense_L44I exm1122706 14 93396071 [A/G] NM_001275 CHGA EXON Missense_E89G exm1122707 14 93396098 [A/G] NM_001275 CHGA EXON Missense_S98N exm2274717 14 93397654 [T/G] NM_001275 CHGA EXON Missense_A139S exm2274718 14 93397655 [T/C] NM_001275 CHGA EXON Missense_A139V exm1122713 14 93397765 [A/G] NM_001275 CHGA EXON Missense_E176K exm1122723 14 93398031 [G/C] NM_001275 CHGA EXON Missense_E264D exm1122726 14 93398717 [T/C] NM_001275 CHGA EXON Missense_R271W exm1122731 14 93398849 [A/G] NM_001275 CHGA EXON Missense_G315S exm1122736 14 93398982 [A/G] NM_001275 CHGA EXON Missense_E359G exm1122738 14 93399011 [A/G] NM_001275 CHGA EXON Missense_D369N exm1122740 14 93399050 [A/G] NM_001275 CHGA EXON Missense_G382S exm1122750 14 93401218 [T/C] NM_001275 CHGA EXON Missense_R455W exm1122780 14 93408238 [T/C] NM_001142594,NM_014216,NM_001142593 ITPK1,ITPK1,ITPK1 EXON Silent,Missense_V305M,Missense_V305M exm1122790 14 93412798 [A/T] NM_001142594,NM_014216,NM_001142593 ITPK1,ITPK1,ITPK1 EXON Missense_E260V,Missense_E260V,Missense_E260V exm1122796 14 93412810 [T/C] NM_001142594,NM_014216,NM_001142593 ITPK1,ITPK1,ITPK1 EXON Missense_R256Q,Missense_R256Q,Missense_R256Q exm1122807 14 93424591 [T/C] NM_001142594,NM_014216,NM_001142593 ITPK1,ITPK1,ITPK1 EXON Missense_V209M,Missense_V209M,Missense_V209M exm1122830 14 93460333 [T/C] NM_001142594,NM_014216,NM_001142593 ITPK1,ITPK1,ITPK1 EXON Missense_D86N,Missense_D86N,Missense_D86N exm1122835 14 93483104 [T/C] NM_001142594,NM_014216,NM_001142593 ITPK1,ITPK1,ITPK1 EXON Missense_V55I,Missense_V55I,Missense_V55I exm1122851 14 93581420 [A/T] NM_001142594,NM_014216,NM_001142593 ITPK1,ITPK1,ITPK1 EXON Missense_L30Q,Missense_L30Q,Missense_L30Q exm2272135 14 93629959 [T/C] exm1122864 14 93649713 [T/C] NM_022151 MOAP1 EXON Missense_Q292R exm1122869 14 93649793 [G/C] NM_022151 MOAP1 EXON Missense_L265F exm1122874 14 93649990 [T/C] NM_022151 MOAP1 EXON Missense_V200I exm1122876 14 93649999 [T/C] NM_022151 MOAP1 EXON Missense_V197M exm1122881 14 93650165 [T/C] NM_022151 MOAP1 EXON Missense_M141I exm1122882 14 93650172 [A/G] NM_022151 MOAP1 EXON Missense_P139L exm1822960 14 93650295 [T/G] NM_022151 MOAP1 EXON Missense_P98Q exm2252005 14 93650339 [T/C] NM_022151 MOAP1 EXON Synonymous_P83P exm1122894 14 93650410 [T/C] NM_022151 MOAP1 EXON Missense_E60K exm1122898 14 93650469 [T/A] NM_022151 MOAP1 EXON Missense_Q40L exm2222925 14 93652681 [A/G] NM_015676,NM_001098621 TMEM251,TMEM251 EXON Missense_A21T,Missense_A59T exm1122906 14 93652787 [T/C] NM_015676,NM_001098621 TMEM251,TMEM251 EXON Missense_T56I,Missense_T94I exm2252006 14 93652806 [A/G] NM_015676,NM_001098621 TMEM251,TMEM251 EXON Synonymous_Q62Q,Synonymous_Q100Q exm1122910 14 93652846 [A/C] NM_015676,NM_001098621 TMEM251,TMEM251 EXON Missense_L76M,Missense_L114M exm1122911 14 93652852 [C/G] NM_015676,NM_001098621 TMEM251,TMEM251 EXON Missense_P78A,Missense_P116A exm1122916 14 93652930 [A/G] NM_015676,NM_001098621 TMEM251,TMEM251 EXON Missense_I104V,Missense_I142V exm1122919 14 93652974 [T/G] NM_015676,NM_001098621 TMEM251,TMEM251 EXON Missense_K118N,Missense_K156N exm1122930 14 93673339 [T/C] NM_032490 C14orf142 EXON Missense_Q15R exm1122938 14 93673655 [A/G] NR_038150,NM_175748 UBR7,UBR7 EXON Silent,Missense_A7T exm1122968 14 93685055 [A/G] NR_038150,NM_175748 UBR7,UBR7 EXON Silent,Missense_G262S exm1822981 14 93685577 [A/G] NR_038150,NM_175748 UBR7,UBR7 EXON Silent,Missense_S277N exm1822983 14 93685612 [C/G] NR_038150,NM_175748 UBR7,UBR7 EXON Silent,Missense_Q289E exm1122993 14 93708759 [A/C] NM_001002860 BTBD7 EXON Missense_S1087A exm1823000 14 93708810 [A/G] NM_001002860 BTBD7 EXON Missense_P1070S exm1122998 14 93708870 [T/C] NM_001002860 BTBD7 EXON Missense_G1050S exm1123000 14 93708881 [T/C] NM_001002860 BTBD7 EXON Missense_N1046S exm1123002 14 93708911 [A/C] NM_001002860 BTBD7 EXON Missense_R1036L exm1123028 14 93712277 [T/C] NM_001002860 BTBD7 EXON Missense_D826G exm1123029 14 93712290 [A/C] NM_001002860 BTBD7 EXON Missense_A822S exm1123031 14 93712314 [C/G] NM_001002860 BTBD7 EXON Missense_P814A exm1123032 14 93712317 [A/G] NM_001002860 BTBD7 EXON Missense_P813S exm1123033 14 93712337 [G/C] NM_001002860 BTBD7 EXON Missense_T806R exm2276343 14 93712551 [T/C] NM_001002860 BTBD7 EXON Missense_V735I exm1123042 14 93712554 [A/G] NM_001002860 BTBD7 EXON Missense_R734C exm1123043 14 93712565 [A/G] NM_001002860 BTBD7 EXON Missense_P730L exm1123057 14 93717839 [A/G] NM_001002860 BTBD7 EXON Missense_P638S exm1123071 14 93720106 [T/A] NM_001002860 BTBD7 EXON Missense_S547T exm1123075 14 93720136 [T/C] NM_001002860 BTBD7 EXON Missense_M537V exm1123088 14 93760287 [T/C] NM_001002860,NM_018167 BTBD7,BTBD7 EXON Missense_G360E,Missense_G360E exm1123101 14 93760476 [T/C] NM_001002860,NM_018167 BTBD7,BTBD7 EXON Missense_R297Q,Missense_R297Q exm1123112 14 93760826 [C/G] NM_001002860,NM_018167 BTBD7,BTBD7 EXON Missense_E180D,Missense_E180D exm1123127 14 93761256 [T/C] NM_001002860,NM_018167 BTBD7,BTBD7 EXON Missense_Y37C,Missense_Y37C exm1123135 14 93813621 [T/C] NM_020818,NM_182971 UNC79,COX8C EXON Silent,Missense_L3F exm1123142 14 93813726 [T/C] NM_020818,NM_182971 UNC79,COX8C EXON Silent,Missense_P38S exm1123156 14 93963563 [G/C] NM_020818 UNC79 EXON Missense_L100V exm1123159 14 93994932 [T/C] NM_020818 UNC79 EXON Missense_A154V exm1823055 14 94007019 [T/G] NM_020818 UNC79 EXON Missense_A279S exm1823056 14 94007022 [G/C] NM_020818 UNC79 EXON Missense_E280Q exm1123201 14 94041411 [T/C] NM_020818 UNC79 EXON Missense_S516L exm1123202 14 94041488 [T/G] NM_020818 UNC79 EXON Missense_A542S exm2252007 14 94046500 [A/G] NM_020818 UNC79 EXON Synonymous_E636E exm1123213 14 94046523 [T/C] NM_020818 UNC79 EXON Missense_M644T exm1123224 14 94053005 [T/C] NM_020818 UNC79 EXON Missense_I779T exm1123266 14 94083538 [G/C] NM_020818 UNC79 EXON Missense_S1194C exm1123271 14 94084548 [A/G] NM_020818 UNC79 EXON Missense_R1235Q exm1123276 14 94084641 [T/C] NM_020818 UNC79 EXON Missense_T1266M exm1123282 14 94088020 [T/C] NM_020818 UNC79 EXON Missense_L1304F exm1123285 14 94088203 [T/C] NM_020818 UNC79 EXON Missense_P1365S exm1123286 14 94088266 [A/G] NM_020818 UNC79 EXON Missense_E1386K exm1123292 14 94088369 [T/C] NM_020818 UNC79 EXON Missense_V1420A exm1123297 14 94088531 [T/C] NM_020818 UNC79 EXON Missense_T1474M exm1123298 14 94088587 [A/G] NM_020818 UNC79 EXON Missense_V1493I exm1123308 14 94088837 [T/C] NM_020818 UNC79 EXON Missense_S1576L exm1123310 14 94088889 [T/G] NM_020818 UNC79 EXON Missense_E1593D exm1123311 14 94089088 [A/C] NM_020818 UNC79 EXON Missense_Q1660K exm1123317 14 94097201 [T/C] NM_020818 UNC79 EXON Missense_A1711V exm1123318 14 94097204 [T/C] NM_020818 UNC79 EXON Missense_P1712L exm1123324 14 94103582 [T/C] NM_020818 UNC79 EXON Missense_R1775C exm1123326 14 94103611 [A/C] NM_020818 UNC79 EXON Missense_N1784K exm1123338 14 94109922 [A/G] NM_020818 UNC79 EXON Missense_I1837V exm1123344 14 94112971 [T/C] NM_020818 UNC79 EXON Missense_T1883I exm1123362 14 94120348 [A/G] NM_020818 UNC79 EXON Missense_A1949T exm1123367 14 94121728 [A/G] NM_020818 UNC79 EXON Missense_K2006R exm1123400 14 94158201 [A/G] NM_020818 UNC79 EXON Missense_N2322S exm1123409 14 94173051 [A/G] NM_020818 UNC79 EXON Missense_H2393R exm1123413 14 94173098 [A/G] NM_020818 UNC79 EXON Missense_V2409M exm1123414 14 94173120 [T/C] NM_020818 UNC79 EXON Missense_T2416M exm1123417 14 94173156 [A/C] NM_020818 UNC79 EXON Missense_A2428E exm1123430 14 94187810 [T/C] NM_178013 PRIMA1 EXON Missense_V148M exm1123439 14 94203638 [A/G] NM_178013 PRIMA1 EXON Missense_S103F exm1123440 14 94203651 [T/C] NM_178013 PRIMA1 EXON Missense_V99I exm2272192 14 94234187 [T/G] NM_178013 PRIMA1 Silent exm2272136 14 94287048 [T/C] exm-rs11848280 14 94358100 [A/G] exm1123459 14 94391699 [A/G] NR_027004,NM_001207071,NM_138344 FAM181A-AS1,FAM181A,FAM181A EXON Silent,Silent,Missense_A28T exm1123460 14 94391705 [T/A] NR_027004,NM_001207071,NM_138344 FAM181A-AS1,FAM181A,FAM181A EXON Silent,Silent,Missense_T30S exm1123463 14 94394567 [A/G] NM_001207071,NM_138344,NM_001207074,NM_001207073,NM_001207072 FAM181A,FAM181A,FAM181A,FAM181A,FAM181A EXON Silent,Missense_G41E,Silent,Silent,Silent exm1123476 14 94394792 [A/G] NM_001207071,NM_138344,NM_001207074,NM_001207073,NM_001207072 FAM181A,FAM181A,FAM181A,FAM181A,FAM181A EXON Missense_R54Q,Missense_R116Q,Missense_R54Q,Missense_R54Q,Missense_R54Q exm1123478 14 94394800 [T/C] NM_001207071,NM_138344,NM_001207074,NM_001207073,NM_001207072 FAM181A,FAM181A,FAM181A,FAM181A,FAM181A EXON Missense_R57W,Missense_R119W,Missense_R57W,Missense_R57W,Missense_R57W exm1123481 14 94394818 [T/G] NM_001207071,NM_138344,NM_001207074,NM_001207073,NM_001207072 FAM181A,FAM181A,FAM181A,FAM181A,FAM181A EXON Missense_A63S,Missense_A125S,Missense_A63S,Missense_A63S,Missense_A63S exm1123483 14 94394911 [A/G] NM_001207071,NM_138344,NM_001207074,NM_001207073,NM_001207072 FAM181A,FAM181A,FAM181A,FAM181A,FAM181A EXON Missense_G94S,Missense_G156S,Missense_G94S,Missense_G94S,Missense_G94S exm1123484 14 94394968 [A/C] NM_001207071,NM_138344,NM_001207074,NM_001207073,NM_001207072 FAM181A,FAM181A,FAM181A,FAM181A,FAM181A EXON Missense_Q113K,Missense_Q175K,Missense_Q113K,Missense_Q113K,Missense_Q113K exm1123490 14 94395137 [A/C] NM_001207071,NM_138344,NM_001207074,NM_001207073,NM_001207072 FAM181A,FAM181A,FAM181A,FAM181A,FAM181A EXON Missense_K169T,Missense_K231T,Missense_K169T,Missense_K169T,Missense_K169T exm1123498 14 94395244 [G/C] NM_001207071,NM_138344,NM_001207074,NM_001207073,NM_001207072 FAM181A,FAM181A,FAM181A,FAM181A,FAM181A EXON Missense_V205L,Missense_V267L,Missense_V205L,Missense_V205L,Missense_V205L exm1123499 14 94395250 [T/C] NM_001207071,NM_138344,NM_001207074,NM_001207073,NM_001207072 FAM181A,FAM181A,FAM181A,FAM181A,FAM181A EXON Missense_R207C,Missense_R269C,Missense_R207C,Missense_R207C,Missense_R207C exm1123504 14 94395389 [T/C] NM_001207071,NM_138344,NM_001207074,NM_001207073,NM_001207072 FAM181A,FAM181A,FAM181A,FAM181A,FAM181A EXON Missense_A253V,Missense_A315V,Missense_A253V,Missense_A253V,Missense_A253V exm1123505 14 94395407 [T/C] NM_001207071,NM_138344,NM_001207074,NM_001207073,NM_001207072 FAM181A,FAM181A,FAM181A,FAM181A,FAM181A EXON Missense_V259A,Missense_V321A,Missense_V259A,Missense_V259A,Missense_V259A exm1123514 14 94401051 [A/G] NM_001202429,NM_016150 ASB2,ASB2 EXON Missense_P620L,Missense_P572L exm1823171 14 94401079 [A/G] NM_001202429,NM_016150 ASB2,ASB2 EXON Missense_Y611H,Missense_Y563H exm1123519 14 94401109 [A/G] NM_001202429,NM_016150 ASB2,ASB2 EXON Nonsense_R601X,Nonsense_R553X exm1123521 14 94404062 [T/C] NM_001202429,NM_016150 ASB2,ASB2 EXON Missense_V585I,Missense_V537I exm1123536 14 94405543 [A/G] NM_001202429,NM_016150 ASB2,ASB2 EXON Missense_Y510H,Missense_Y462H exm1823180 14 94405819 [T/C] NM_001202429,NM_016150 ASB2,ASB2 EXON Missense_A418T,Missense_A370T exm1123565 14 94417390 [T/C] NM_001202429,NM_016150 ASB2,ASB2 EXON Missense_A279T,Missense_A231T exm1123568 14 94417414 [T/C] NM_001202429,NM_016150 ASB2,ASB2 EXON Missense_G271S,Missense_G223S exm1123570 14 94417420 [T/C] NM_001202429,NM_016150 ASB2,ASB2 EXON Missense_A269T,Missense_A221T exm1123574 14 94417447 [T/C] NM_001202429,NM_016150 ASB2,ASB2 EXON Missense_G260R,Missense_G212R exm1123577 14 94417479 [T/C] NM_001202429,NM_016150 ASB2,ASB2 EXON Missense_N249S,Missense_N201S exm1123579 14 94417483 [A/G] NM_001202429,NM_016150 ASB2,ASB2 EXON Missense_R248C,Missense_R200C exm1123580 14 94417495 [T/C] NM_001202429,NM_016150 ASB2,ASB2 EXON Missense_E244K,Missense_E196K exm1123584 14 94417531 [T/C] NM_001202429,NM_016150 ASB2,ASB2 EXON Missense_N232D,Missense_N184D exm1123587 14 94417564 [T/C] NM_001202429,NM_016150 ASB2,ASB2 EXON Missense_V221M,Missense_V173M exm1123588 14 94417573 [T/C] NM_001202429,NM_016150 ASB2,ASB2 EXON Missense_A218T,Missense_A170T exm1123599 14 94419821 [T/G] NM_001202429,NM_016150 ASB2,ASB2 EXON Missense_Q171K,Missense_Q123K exm1123615 14 94423112 [A/G] NM_001202429,NM_016150 ASB2,ASB2 EXON Missense_A104V,Missense_A56V exm1823207 14 94423176 [T/C] NM_001202429,NM_016150 ASB2,ASB2 EXON Missense_M83V,Missense_M35V exm1123618 14 94423185 [A/G] NM_001202429,NM_016150 ASB2,ASB2 EXON Missense_R80W,Missense_R32W exm1123620 14 94423193 [A/G] NM_001202429,NM_016150 ASB2,ASB2 EXON Missense_S77L,Missense_S29L exm1123659 14 94503739 [T/G] NM_023112 OTUB2 EXON Missense_F6C exm1123661 14 94503808 [A/G] NM_023112 OTUB2 EXON Missense_R29Q exm1123663 14 94505330 [A/G] NM_023112 OTUB2 EXON Missense_A41T exm1123673 14 94510330 [A/G] NM_023112 OTUB2 EXON Missense_V78I exm1123690 14 94512114 [T/C] NM_023112 OTUB2 EXON Missense_S184L exm1123696 14 94512209 [A/G] NM_023112 OTUB2 EXON Missense_V216I exm1123721 14 94517670 [A/G] NM_020414 DDX24 EXON Missense_P816L exm1123730 14 94517778 [T/C] NM_020414 DDX24 EXON Missense_R780Q exm1123736 14 94521380 [C/G] NM_020414 DDX24 EXON Missense_L714V exm1123743 14 94521529 [A/C] NM_020414 DDX24 EXON Missense_V664G exm1123748 14 94526453 [T/C] NM_020414 DDX24 EXON Missense_R635H exm1123752 14 94526529 [C/G] NM_020414 DDX24 EXON Missense_L610V exm1123753 14 94526534 [T/C] NM_020414 DDX24 EXON Missense_K608R exm1123763 14 94526879 [T/C] NM_020414 DDX24 EXON Missense_N493S exm1123764 14 94526885 [A/G] NM_020414 DDX24 EXON Missense_M491T exm1123773 14 94527316 [T/C] NM_020414 DDX24 EXON Missense_R447Q exm1123780 14 94528485 [T/C] NM_020414 DDX24 EXON Missense_V401I exm1123783 14 94528530 [A/G] NM_020414 DDX24 EXON Missense_R386C exm1123784 14 94528554 [T/C] NM_020414 DDX24 EXON Missense_A378T exm1123785 14 94528572 [T/C] NM_020414 DDX24 EXON Missense_E372K exm1123788 14 94528617 [T/C] NM_020414 DDX24 EXON Missense_E357K exm1123793 14 94528727 [T/C] NM_020414 DDX24 EXON Missense_K320R exm1123794 14 94528736 [T/G] NM_020414 DDX24 EXON Missense_A317D exm1123795 14 94528740 [T/C] NM_020414 DDX24 EXON Missense_E316K exm1123797 14 94528748 [A/G] NM_020414 DDX24 EXON Missense_I313T exm1123799 14 94528836 [T/C] NM_020414 DDX24 EXON Missense_E284K exm1123800 14 94528875 [T/C] NM_020414 DDX24 EXON Missense_E271K exm1123817 14 94545604 [T/C] NM_020414 DDX24 EXON Missense_G162E exm1123821 14 94545709 [A/G] NM_020414 DDX24 EXON Missense_A127V exm1123822 14 94545731 [T/C] NM_020414 DDX24 EXON Missense_V120M exm1123823 14 94545746 [C/G] NM_020414 DDX24 EXON Missense_Q115E exm1823259 14 94545814 [A/G] NM_020414 DDX24 EXON Missense_S92F exm1123829 14 94546047 [C/G] NM_020414 DDX24 EXON Missense_S14R exm1123830 14 94546058 [T/C] NM_020414 DDX24 EXON Missense_K11E exm-rs7157940 14 94563193 [T/C] NM_145249,NM_206949 IFI27L1,IFI27L1 EXON Silent,Silent exm1123836 14 94563286 [A/G] NM_145249,NM_206949 IFI27L1,IFI27L1 EXON Missense_M1I,Missense_M1I exm1123839 14 94567097 [T/C] NM_145249,NM_206949 IFI27L1,IFI27L1 EXON Missense_V14A,Missense_V14A exm1123840 14 94567118 [A/G] NM_145249,NM_206949 IFI27L1,IFI27L1 Silent,Silent exm1823269 14 94568162 [A/G] NM_145249,NM_206949 IFI27L1,IFI27L1 EXON Missense_V22M,Missense_V22M exm1123847 14 94568201 [A/G] NM_145249,NM_206949 IFI27L1,IFI27L1 EXON Missense_G35S,Missense_G35S exm1123867 14 94582134 [T/C] NM_005532,NM_001130080 IFI27,IFI27 EXON Synonymous_A43A,Missense_L42P exm1123874 14 94582180 [A/G] NM_005532,NM_001130080 IFI27,IFI27 EXON Missense_A59T,Synonymous_S57S exm1123875 14 94582184 [T/C] NM_005532,NM_001130080 IFI27,IFI27 EXON Missense_S60L,Missense_R59C exm1123876 14 94582212 [T/C] NM_005532,NM_001130080 IFI27,IFI27 EXON Synonymous_S69S,Missense_P68L exm1123877 14 94582213 [A/G] NM_005532,NM_001130080 IFI27,IFI27 EXON Missense_A70T,Synonymous_P68P exm1123884 14 94582821 [T/C] NM_005532,NM_001130080 IFI27,IFI27 EXON Missense_S106F,Missense_P105S exm1823281 14 94594139 [T/G] NM_032036 IFI27L2 EXON Missense_E130D exm1123893 14 94594327 [A/C] NM_032036 IFI27L2 EXON Missense_A68S exm1123918 14 94640813 [T/C] NM_058237,NM_020958 PPP4R4,PPP4R4 EXON Missense_P4L,Missense_P4L exm1123925 14 94642440 [T/C] NM_058237,NM_020958 PPP4R4,PPP4R4 EXON Missense_I56T,Missense_I56T exm1123962 14 94708257 [A/G] NM_058237 PPP4R4 EXON Missense_Y370C exm1123985 14 94716569 [T/C] NM_058237 PPP4R4 EXON Missense_R558C exm1124001 14 94731284 [T/C] NM_058237 PPP4R4 EXON Missense_R733C exm1124010 14 94732219 [T/G] NM_058237 PPP4R4 EXON Missense_C791W exm1124013 14 94733340 [A/G] NM_058237 PPP4R4 EXON Missense_G808E exm1124015 14 94733364 [T/C] NM_058237 PPP4R4 EXON Missense_A816V exm1124016 14 94741721 [A/C] NM_058237 PPP4R4 EXON Missense_F820L exm1124021 14 94741777 [T/C] NM_058237 PPP4R4 EXON Missense_P839L exm1823346 14 94744975 [T/C] NM_058237 PPP4R4 EXON Missense_P873S exm1124033 14 94750336 [T/A] NM_001100607,NM_016186 SERPINA10,SERPINA10 EXON Missense_F434Y,Missense_F434Y exm1124035 14 94750361 [T/C] NM_001100607,NM_016186 SERPINA10,SERPINA10 EXON Missense_E426K,Missense_E426K exm1124040 14 94750486 [T/C] NM_001100607,NM_016186 SERPINA10,SERPINA10 EXON Missense_Q384R,Missense_Q384R exm1124047 14 94754643 [T/C] NM_001100607,NM_016186 SERPINA10,SERPINA10 EXON Nonsense_W324X,Nonsense_W324X exm1124048 14 94754684 [T/C] NM_001100607,NM_016186 SERPINA10,SERPINA10 EXON Missense_A311T,Missense_A311T exm1124055 14 94754804 [T/C] NM_001100607,NM_016186 SERPINA10,SERPINA10 EXON Missense_G271S,Missense_G271S exm1124062 14 94754857 [A/G] NM_001100607,NM_016186 SERPINA10,SERPINA10 EXON Missense_V253A,Missense_V253A exm1124065 14 94756322 [A/C] NM_001100607,NM_016186 SERPINA10,SERPINA10 EXON Missense_R203S,Missense_R203S exm1124067 14 94756344 [T/C] NM_001100607,NM_016186 SERPINA10,SERPINA10 EXON Missense_R196H,Missense_R196H exm1124075 14 94756411 [T/C] NM_001100607,NM_016186 SERPINA10,SERPINA10 EXON Missense_V174I,Missense_V174I exm1124077 14 94756450 [A/T] NM_001100607,NM_016186 SERPINA10,SERPINA10 EXON Missense_T161S,Missense_T161S exm1124078 14 94756458 [T/A] NM_001100607,NM_016186 SERPINA10,SERPINA10 EXON Missense_L158Q,Missense_L158Q exm1124080 14 94756470 [T/C] NM_001100607,NM_016186 SERPINA10,SERPINA10 EXON Missense_R154H,Missense_R154H exm1124081 14 94756496 [A/C] NM_001100607,NM_016186 SERPINA10,SERPINA10 EXON Missense_F145L,Missense_F145L exm1124082 14 94756503 [T/G] NM_001100607,NM_016186 SERPINA10,SERPINA10 EXON Missense_S143Y,Missense_S143Y exm1124083 14 94756516 [T/C] NM_001100607,NM_016186 SERPINA10,SERPINA10 EXON Missense_G139R,Missense_G139R exm1823364 14 94756542 [A/C] NM_001100607,NM_016186 SERPINA10,SERPINA10 EXON Missense_L130W,Missense_L130W exm1124087 14 94756668 [T/C] NM_001100607,NM_016186 SERPINA10,SERPINA10 EXON Missense_R88Q,Missense_R88Q exm1124088 14 94756669 [A/G] NM_001100607,NM_016186 SERPINA10,SERPINA10 EXON Nonsense_R88X,Nonsense_R88X exm1124090 14 94756750 [T/C] NM_001100607,NM_016186 SERPINA10,SERPINA10 EXON Missense_S61G,Missense_S61G exm1124093 14 94756794 [T/C] NM_001100607,NM_016186 SERPINA10,SERPINA10 EXON Missense_K46R,Missense_K46R exm1124097 14 94756912 [T/G] NM_001100607,NM_016186 SERPINA10,SERPINA10 EXON Missense_L7I,Missense_L7I exm1124102 14 94770808 [T/C] NM_001756 SERPINA6 EXON Missense_D389N exm1823382 14 94772443 [A/G] NM_001756 SERPINA6 EXON Missense_R333C exm1124116 14 94772473 [A/C] NM_001756 SERPINA6 EXON Missense_D323Y exm2276346 14 94776154 [A/G] NM_001756 SERPINA6 EXON Missense_P268L exm1124126 14 94776221 [A/C] NM_001756 SERPINA6 EXON Missense_S246A exm1124131 14 94776307 [G/C] NM_001756 SERPINA6 EXON Missense_R217T exm1124142 14 94780642 [A/T] NM_001756 SERPINA6 EXON Missense_L115H exm2252012 14 94780686 [T/C] NM_001756 SERPINA6 EXON Synonymous_R100R exm1823395 14 94780768 [A/G] NM_001756 SERPINA6 EXON Missense_A73V exm1124149 14 94780771 [A/G] NM_001756 SERPINA6 EXON Missense_M72T exm1124153 14 94780855 [A/G] NM_001756 SERPINA6 EXON Missense_V44A exm1124158 14 94780879 [T/C] NM_001756 SERPINA6 EXON Missense_H36R exm1124160 14 94780913 [A/G] NM_001756 SERPINA6 EXON Missense_P25S exm1124161 14 94780928 [T/C] NM_001756 SERPINA6 EXON Missense_V20I exm1124165 14 94780963 [A/C] NM_001756 SERPINA6 EXON Missense_C8F exm1124171 14 94844843 [T/G] NM_001002235,NM_001002236,NM_001127704,NM_001127706,NM_001127705,NM_001127702,NM_001127700,NM_001127703,NM_001127701,NM_000295,NM_001127707 SERPINA1,SERPINA1,SERPINA1,SERPINA1,SERPINA1,SERPINA1,SERPINA1,SERPINA1,SERPINA1,SERPINA1,SERPINA1 EXON Missense_E400D,Missense_E400D,Missense_E400D,Missense_E400D,Missense_E400D,Missense_E400D,Missense_E400D,Missense_E400D,Missense_E400D,Missense_E400D,Missense_E400D exm1124174 14 94844866 [A/G] NM_001002235,NM_001002236,NM_001127704,NM_001127706,NM_001127705,NM_001127702,NM_001127700,NM_001127703,NM_001127701,NM_000295,NM_001127707 SERPINA1,SERPINA1,SERPINA1,SERPINA1,SERPINA1,SERPINA1,SERPINA1,SERPINA1,SERPINA1,SERPINA1,SERPINA1 EXON Missense_P393S,Missense_P393S,Missense_P393S,Missense_P393S,Missense_P393S,Missense_P393S,Missense_P393S,Missense_P393S,Missense_P393S,Missense_P393S,Missense_P393S exm1124175 14 94844884 [T/C] NM_001002235,NM_001002236,NM_001127704,NM_001127706,NM_001127705,NM_001127702,NM_001127700,NM_001127703,NM_001127701,NM_000295,NM_001127707 SERPINA1,SERPINA1,SERPINA1,SERPINA1,SERPINA1,SERPINA1,SERPINA1,SERPINA1,SERPINA1,SERPINA1,SERPINA1 EXON Missense_E387K,Missense_E387K,Missense_E387K,Missense_E387K,Missense_E387K,Missense_E387K,Missense_E387K,Missense_E387K,Missense_E387K,Missense_E387K,Missense_E387K exm1124179 14 94844947 [T/C] NM_001002235,NM_001002236,NM_001127704,NM_001127706,NM_001127705,NM_001127702,NM_001127700,NM_001127703,NM_001127701,NM_000295,NM_001127707 SERPINA1,SERPINA1,SERPINA1,SERPINA1,SERPINA1,SERPINA1,SERPINA1,SERPINA1,SERPINA1,SERPINA1,SERPINA1 EXON Missense_E366K,Missense_E366K,Missense_E366K,Missense_E366K,Missense_E366K,Missense_E366K,Missense_E366K,Missense_E366K,Missense_E366K,Missense_E366K,Missense_E366K exm1823402 14 94844948 [A/G] NM_001002235,NM_001002236,NM_001127704,NM_001127706,NM_001127705,NM_001127702,NM_001127700,NM_001127703,NM_001127701,NM_000295,NM_001127707 SERPINA1,SERPINA1,SERPINA1,SERPINA1,SERPINA1,SERPINA1,SERPINA1,SERPINA1,SERPINA1,SERPINA1,SERPINA1 EXON Synonymous_D365D,Synonymous_D365D,Synonymous_D365D,Synonymous_D365D,Synonymous_D365D,Synonymous_D365D,Synonymous_D365D,Synonymous_D365D,Synonymous_D365D,Synonymous_D365D,Synonymous_D365D exm1124180 14 94844950 [T/C] NM_001002235,NM_001002236,NM_001127704,NM_001127706,NM_001127705,NM_001127702,NM_001127700,NM_001127703,NM_001127701,NM_000295,NM_001127707 SERPINA1,SERPINA1,SERPINA1,SERPINA1,SERPINA1,SERPINA1,SERPINA1,SERPINA1,SERPINA1,SERPINA1,SERPINA1 EXON Missense_D365N,Missense_D365N,Missense_D365N,Missense_D365N,Missense_D365N,Missense_D365N,Missense_D365N,Missense_D365N,Missense_D365N,Missense_D365N,Missense_D365N exm1823404 14 94844968 [T/C] NM_001002235,NM_001002236,NM_001127704,NM_001127706,NM_001127705,NM_001127702,NM_001127700,NM_001127703,NM_001127701,NM_000295,NM_001127707 SERPINA1,SERPINA1,SERPINA1,SERPINA1,SERPINA1,SERPINA1,SERPINA1,SERPINA1,SERPINA1,SERPINA1,SERPINA1 EXON Missense_K359E,Missense_K359E,Missense_K359E,Missense_K359E,Missense_K359E,Missense_K359E,Missense_K359E,Missense_K359E,Missense_K359E,Missense_K359E,Missense_K359E exm1124187 14 94845805 [A/G] NM_001002235,NM_001002236,NM_001127704,NM_001127706,NM_001127705,NM_001127702,NM_001127700,NM_001127703,NM_001127701,NM_000295,NM_001127707 SERPINA1,SERPINA1,SERPINA1,SERPINA1,SERPINA1,SERPINA1,SERPINA1,SERPINA1,SERPINA1,SERPINA1,SERPINA1 EXON Missense_S354F,Missense_S354F,Missense_S354F,Missense_S354F,Missense_S354F,Missense_S354F,Missense_S354F,Missense_S354F,Missense_S354F,Missense_S354F,Missense_S354F exm1124189 14 94845890 [T/C] NM_001002235,NM_001002236,NM_001127704,NM_001127706,NM_001127705,NM_001127702,NM_001127700,NM_001127703,NM_001127701,NM_000295,NM_001127707 SERPINA1,SERPINA1,SERPINA1,SERPINA1,SERPINA1,SERPINA1,SERPINA1,SERPINA1,SERPINA1,SERPINA1,SERPINA1 EXON Missense_V326I,Missense_V326I,Missense_V326I,Missense_V326I,Missense_V326I,Missense_V326I,Missense_V326I,Missense_V326I,Missense_V326I,Missense_V326I,Missense_V326I exm1124193 14 94845944 [A/C] NM_001002235,NM_001002236,NM_001127704,NM_001127706,NM_001127705,NM_001127702,NM_001127700,NM_001127703,NM_001127701,NM_000295,NM_001127707 SERPINA1,SERPINA1,SERPINA1,SERPINA1,SERPINA1,SERPINA1,SERPINA1,SERPINA1,SERPINA1,SERPINA1,SERPINA1 EXON Missense_A308S,Missense_A308S,Missense_A308S,Missense_A308S,Missense_A308S,Missense_A308S,Missense_A308S,Missense_A308S,Missense_A308S,Missense_A308S,Missense_A308S exm1124197 14 94847246 [T/G] NM_001002235,NM_001002236,NM_001127704,NM_001127706,NM_001127705,NM_001127702,NM_001127700,NM_001127703,NM_001127701,NM_000295,NM_001127707 SERPINA1,SERPINA1,SERPINA1,SERPINA1,SERPINA1,SERPINA1,SERPINA1,SERPINA1,SERPINA1,SERPINA1,SERPINA1 EXON Missense_H293Q,Missense_H293Q,Missense_H293Q,Missense_H293Q,Missense_H293Q,Missense_H293Q,Missense_H293Q,Missense_H293Q,Missense_H293Q,Missense_H293Q,Missense_H293Q exm1124199 14 94847269 [A/G] NM_001002235,NM_001002236,NM_001127704,NM_001127706,NM_001127705,NM_001127702,NM_001127700,NM_001127703,NM_001127701,NM_000295,NM_001127707 SERPINA1,SERPINA1,SERPINA1,SERPINA1,SERPINA1,SERPINA1,SERPINA1,SERPINA1,SERPINA1,SERPINA1,SERPINA1 EXON Missense_H286Y,Missense_H286Y,Missense_H286Y,Missense_H286Y,Missense_H286Y,Missense_H286Y,Missense_H286Y,Missense_H286Y,Missense_H286Y,Missense_H286Y,Missense_H286Y exm1124207 14 94847386 [A/G] NM_001002235,NM_001002236,NM_001127704,NM_001127706,NM_001127705,NM_001127702,NM_001127700,NM_001127703,NM_001127701,NM_000295,NM_001127707 SERPINA1,SERPINA1,SERPINA1,SERPINA1,SERPINA1,SERPINA1,SERPINA1,SERPINA1,SERPINA1,SERPINA1,SERPINA1 EXON Missense_R247C,Missense_R247C,Missense_R247C,Missense_R247C,Missense_R247C,Missense_R247C,Missense_R247C,Missense_R247C,Missense_R247C,Missense_R247C,Missense_R247C exm1124208 14 94847415 [A/G] NM_001002235,NM_001002236,NM_001127704,NM_001127706,NM_001127705,NM_001127702,NM_001127700,NM_001127703,NM_001127701,NM_000295,NM_001127707 SERPINA1,SERPINA1,SERPINA1,SERPINA1,SERPINA1,SERPINA1,SERPINA1,SERPINA1,SERPINA1,SERPINA1,SERPINA1 EXON Missense_V237A,Missense_V237A,Missense_V237A,Missense_V237A,Missense_V237A,Missense_V237A,Missense_V237A,Missense_V237A,Missense_V237A,Missense_V237A,Missense_V237A exm2276347 14 94849061 [A/C] NM_001002235,NM_001002236,NM_001127704,NM_001127706,NM_001127705,NM_001127702,NM_001127700,NM_001127703,NM_001127701,NM_000295,NM_001127707 SERPINA1,SERPINA1,SERPINA1,SERPINA1,SERPINA1,SERPINA1,SERPINA1,SERPINA1,SERPINA1,SERPINA1,SERPINA1 EXON Missense_G172W,Missense_G172W,Missense_G172W,Missense_G172W,Missense_G172W,Missense_G172W,Missense_G172W,Missense_G172W,Missense_G172W,Missense_G172W,Missense_G172W exm1124224 14 94849201 [T/C] NM_001002235,NM_001002236,NM_001127704,NM_001127706,NM_001127705,NM_001127702,NM_001127700,NM_001127703,NM_001127701,NM_000295,NM_001127707 SERPINA1,SERPINA1,SERPINA1,SERPINA1,SERPINA1,SERPINA1,SERPINA1,SERPINA1,SERPINA1,SERPINA1,SERPINA1 EXON Missense_R125H,Missense_R125H,Missense_R125H,Missense_R125H,Missense_R125H,Missense_R125H,Missense_R125H,Missense_R125H,Missense_R125H,Missense_R125H,Missense_R125H exm1124228 14 94849325 [T/C] NM_001002235,NM_001002236,NM_001127704,NM_001127706,NM_001127705,NM_001127702,NM_001127700,NM_001127703,NM_001127701,NM_000295,NM_001127707 SERPINA1,SERPINA1,SERPINA1,SERPINA1,SERPINA1,SERPINA1,SERPINA1,SERPINA1,SERPINA1,SERPINA1,SERPINA1 EXON Missense_A84T,Missense_A84T,Missense_A84T,Missense_A84T,Missense_A84T,Missense_A84T,Missense_A84T,Missense_A84T,Missense_A84T,Missense_A84T,Missense_A84T exm1124231 14 94849369 [A/G] NM_001002235,NM_001002236,NM_001127704,NM_001127706,NM_001127705,NM_001127702,NM_001127700,NM_001127703,NM_001127701,NM_000295,NM_001127707 SERPINA1,SERPINA1,SERPINA1,SERPINA1,SERPINA1,SERPINA1,SERPINA1,SERPINA1,SERPINA1,SERPINA1,SERPINA1 EXON Missense_S69F,Missense_S69F,Missense_S69F,Missense_S69F,Missense_S69F,Missense_S69F,Missense_S69F,Missense_S69F,Missense_S69F,Missense_S69F,Missense_S69F exm1124235 14 94849388 [A/G] NM_001002235,NM_001002236,NM_001127704,NM_001127706,NM_001127705,NM_001127702,NM_001127700,NM_001127703,NM_001127701,NM_000295,NM_001127707 SERPINA1,SERPINA1,SERPINA1,SERPINA1,SERPINA1,SERPINA1,SERPINA1,SERPINA1,SERPINA1,SERPINA1,SERPINA1 EXON Missense_R63C,Missense_R63C,Missense_R63C,Missense_R63C,Missense_R63C,Missense_R63C,Missense_R63C,Missense_R63C,Missense_R63C,Missense_R63C,Missense_R63C exm1124255 14 94909130 [A/G] NM_001080451 SERPINA11 EXON Missense_M361T exm1124258 14 94909479 [T/C] NM_001080451 SERPINA11 EXON Missense_N334S exm1124263 14 94912704 [T/C] NM_001080451 SERPINA11 EXON Missense_Q294R exm1124271 14 94912896 [T/G] NM_001080451 SERPINA11 EXON Missense_E230A exm1124273 14 94912918 [A/G] NM_001080451 SERPINA11 EXON Missense_R223C exm1124276 14 94914468 [C/G] NM_001080451 SERPINA11 Silent exm1124287 14 94914634 [A/G] NM_001080451 SERPINA11 EXON Missense_L160F exm1124289 14 94914667 [A/G] NM_001080451 SERPINA11 EXON Missense_P149S exm1124310 14 94929444 [T/G] NM_175739,NM_001042518 SERPINA9,SERPINA9 EXON Missense_P432T,Missense_P332T exm1124322 14 94931042 [A/G] NM_175739,NM_001042518 SERPINA9,SERPINA9 Silent,Silent exm1124323 14 94931052 [T/C] NM_175739,NM_001042518 SERPINA9,SERPINA9 EXON Missense_V366I,Missense_V266I exm1124326 14 94931105 [A/G] NM_175739,NM_001042518 SERPINA9,SERPINA9 EXON Missense_V348A,Missense_V248A exm1124327 14 94931126 [A/G] NM_175739,NM_001042518 SERPINA9,SERPINA9 EXON Missense_P341L,Missense_P241L exm1124332 14 94933473 [A/C] NM_175739,NM_001042518 SERPINA9,SERPINA9 EXON Missense_R310I,Missense_R210I exm1124337 14 94933588 [T/G] NM_175739,NM_001042518 SERPINA9,SERPINA9 EXON Missense_L272M,Missense_L172M exm1124338 14 94933609 [T/C] NM_175739,NM_001042518 SERPINA9,SERPINA9 EXON Missense_A265T,Missense_A165T exm1124339 14 94933610 [T/G] NM_175739,NM_001042518 SERPINA9,SERPINA9 EXON Missense_F264L,Missense_F164L exm1124342 14 94933640 [T/A] NM_175739,NM_001042518 SERPINA9,SERPINA9 EXON Missense_H254Q,Missense_H154Q exm1124347 14 94933695 [A/G] NM_175739,NM_001042518 SERPINA9,SERPINA9 EXON Missense_P236L,Missense_P136L exm1124349 14 94933712 [G/C] NM_175739,NM_001042518 SERPINA9,SERPINA9 EXON Missense_W230C,Missense_W130C exm2260390 14 94935108 [T/C] NM_175739,NM_001042518 SERPINA9,SERPINA9 Silent,Silent exm1124353 14 94935628 [A/G] NM_175739,NM_001042518 SERPINA9,SERPINA9 EXON Nonsense_Q202X,Nonsense_Q102X exm1124359 14 94935763 [T/G] NM_175739,NM_001042518 SERPINA9,SERPINA9 EXON Missense_K157Q,Silent exm1124361 14 94935807 [A/G] NM_175739,NM_001042518 SERPINA9,SERPINA9 EXON Missense_P142L,Silent exm1124371 14 94935985 [T/C] NM_175739,NM_001042518 SERPINA9,SERPINA9 EXON Missense_S83G,Missense_S83G exm1124373 14 94936008 [T/C] NM_175739,NM_001042518 SERPINA9,SERPINA9 EXON Missense_R75H,Missense_R75H exm1124376 14 94936062 [A/G] NM_175739,NM_001042518 SERPINA9,SERPINA9 EXON Missense_T57I,Missense_T57I exm1124383 14 94936110 [A/G] NM_175739,NM_001042518 SERPINA9,SERPINA9 EXON Missense_P41L,Missense_P41L exm1124387 14 94942472 [T/C] NM_175739,NM_001042518 SERPINA9,SERPINA9 Silent,Silent exm1124389 14 94942496 [A/C] NM_175739,NM_001042518 SERPINA9,SERPINA9 EXON Missense_G5V,Missense_G5V exm1124405 14 94953705 [T/C] NM_173850 SERPINA12 EXON Missense_I394V exm1124408 14 94953767 [A/G] NM_173850 SERPINA12 EXON Missense_A373V exm1124409 14 94953785 [T/C] NM_173850 SERPINA12 EXON Missense_G367E exm1124410 14 94953818 [T/G] NM_173850 SERPINA12 EXON Missense_A356D exm1124411 14 94953823 [C/G] NM_173850 SERPINA12 EXON Missense_H354Q exm1124412 14 94953832 [A/C] NM_173850 SERPINA12 Silent exm2267683 14 94954368 [A/G] NM_173850 SERPINA12 Silent exm1124416 14 94956030 [T/C] NM_173850 SERPINA12 EXON Missense_G327D exm1124419 14 94956069 [A/G] NM_173850 SERPINA12 EXON Missense_T314M exm1124420 14 94956100 [T/C] NM_173850 SERPINA12 EXON Missense_V304I exm1124421 14 94956104 [T/C] NM_173850 SERPINA12 EXON Synonymous_R302R exm1124425 14 94962714 [A/G] NM_173850 SERPINA12 EXON Missense_R301C exm1124434 14 94962887 [T/C] NM_173850 SERPINA12 EXON Missense_R243H exm1124435 14 94962897 [T/C] NM_173850 SERPINA12 EXON Missense_M240V exm1823481 14 94962959 [T/C] NM_173850 SERPINA12 EXON Missense_D219G exm1124441 14 94964099 [A/G] NM_173850 SERPINA12 Silent exm1124442 14 94964104 [A/G] NM_173850 SERPINA12 EXON Nonsense_R211X exm1124443 14 94964127 [A/G] NM_173850 SERPINA12 EXON Missense_L203P exm1124447 14 94964220 [A/G] NM_173850 SERPINA12 EXON Missense_M172T exm1124449 14 94964247 [A/G] NM_173850 SERPINA12 EXON Missense_I163T exm1124453 14 94964311 [T/G] NM_173850 SERPINA12 EXON Missense_Q142K exm1124460 14 94964534 [T/G] NM_173850 SERPINA12 EXON Missense_N67K exm2275346 14 95029928 [T/C] NM_006215 SERPINA4 EXON Nonsense_Q37X exm1124483 14 95030067 [T/C] NM_006215 SERPINA4 EXON Missense_S83L exm1124485 14 95030070 [T/C] NM_006215 SERPINA4 EXON Missense_A84V exm1124499 14 95030229 [A/C] NM_006215 SERPINA4 EXON Missense_T137K exm1124501 14 95030231 [T/C] NM_006215 SERPINA4 EXON Missense_R138C exm1124507 14 95030356 [T/C] NM_006215 SERPINA4 EXON Synonymous_I179I exm2252014 14 95030356 [T/C] NM_006215 SERPINA4 EXON Synonymous_I179I exm1124515 14 95033381 [T/C] NM_006215 SERPINA4 EXON Missense_R242W exm1124516 14 95033435 [T/C] NM_006215 SERPINA4 EXON Missense_Y260H exm1124518 14 95033457 [A/G] NM_006215 SERPINA4 EXON Missense_R267Q exm1124523 14 95033573 [T/C] NM_006215 SERPINA4 EXON Missense_R306W exm1124530 14 95034551 [A/G] NM_006215 SERPINA4 EXON Missense_G337S exm1124536 14 95035756 [A/G] NM_006215 SERPINA4 EXON Missense_V370M exm2252015 14 95035791 [G/C] NM_006215 SERPINA4 EXON Synonymous_T381T exm1124543 14 95035841 [A/G] NM_006215 SERPINA4 EXON Missense_R398Q exm1124551 14 95035922 [T/C] NM_006215 SERPINA4 EXON Missense_T425M exm1124556 14 95053772 [T/C] NM_000624 SERPINA5 EXON Missense_R25W exm1124557 14 95053773 [A/G] NM_000624 SERPINA5 EXON Missense_R25Q exm1124558 14 95053804 [T/G] NM_000624 SERPINA5 EXON Missense_H35Q exm1124560 14 95053829 [A/G] NM_000624 SERPINA5 EXON Missense_S44G exm1124564 14 95053863 [T/C] NM_000624 SERPINA5 EXON Missense_A55V exm1124565 14 95053874 [A/G] NM_000624 SERPINA5 EXON Missense_A59T exm1124573 14 95053980 [T/G] NM_000624 SERPINA5 EXON Missense_G94V exm1124575 14 95054012 [A/G] NM_000624 SERPINA5 EXON Missense_K105E exm1124576 14 95054055 [A/G] NM_000624 SERPINA5 EXON Missense_N119S exm1124581 14 95054087 [A/G] NM_000624 SERPINA5 EXON Missense_G130S exm1124585 14 95054151 [T/C] NM_000624 SERPINA5 EXON Missense_T151M exm1124588 14 95054181 [A/T] NM_000624 SERPINA5 EXON Missense_N161I exm1124598 14 95054307 [A/T] NM_000624 SERPINA5 EXON Missense_I203N exm1124599 14 95056407 [C/G] NM_000624 SERPINA5 EXON Missense_G217R exm1124602 14 95056440 [G/C] NM_000624 SERPINA5 EXON Missense_E228Q exm2274720 14 95056453 [A/G] NM_000624 SERPINA5 EXON Missense_R232Q exm1124605 14 95056471 [A/G] NM_000624 SERPINA5 EXON Missense_R238H exm1124618 14 95056583 [A/G] NM_000624 SERPINA5 EXON Missense_M275I exm1124626 14 95057127 [T/C] NM_000624 SERPINA5 EXON Missense_S311F exm1124627 14 95057144 [A/G] NM_000624 SERPINA5 EXON Missense_V317I exm1124632 14 95057219 [A/G] NM_000624 SERPINA5 EXON Missense_I342V exm1124653 14 95058568 [T/C] NM_000624 SERPINA5 EXON Missense_R405C exm1124666 14 95080786 [A/G] NM_001085 SERPINA3 EXON Missense_R3K exm1124667 14 95080795 [T/C] NM_001085 SERPINA3 EXON Missense_P6L exm1124668 14 95080803 [A/G] NM_001085 SERPINA3 EXON Missense_A9T exm1124670 14 95080819 [T/C] NM_001085 SERPINA3 EXON Missense_A14V exm1124679 14 95080932 [A/G] NM_001085 SERPINA3 EXON Missense_A52T exm1124684 14 95081015 [T/C] NM_001085 SERPINA3 EXON Synonymous_S79S exm2252016 14 95081015 [T/C] NM_001085 SERPINA3 EXON Synonymous_S79S exm1124685 14 95081025 [A/G] NM_001085 SERPINA3 EXON Missense_A83T exm2252017 14 95081141 [T/C] NM_001085 SERPINA3 EXON Synonymous_H121H exm1124694 14 95081141 [T/C] NM_001085 SERPINA3 EXON Synonymous_H121H exm1124695 14 95081148 [T/C] NM_001085 SERPINA3 EXON Missense_R124C exm1124698 14 95081169 [A/G] NM_001085 SERPINA3 EXON Missense_D131N exm1124724 14 95085598 [A/G] NM_001085 SERPINA3 EXON Missense_K237R exm1124726 14 95085642 [C/G] NM_001085 SERPINA3 EXON Missense_P252A exm1124727 14 95085651 [T/C] NM_001085 SERPINA3 EXON Missense_R255W exm1124737 14 95085758 [T/G] NM_001085 SERPINA3 EXON Missense_M290I exm1124740 14 95085781 [A/G] NM_001085 SERPINA3 EXON Missense_R298Q exm1124742 14 95088677 [C/G] NM_001085 SERPINA3 Silent exm1823559 14 95088683 [T/C] NM_001085 SERPINA3 EXON Missense_I308T exm1823561 14 95088745 [T/C] NM_001085 SERPINA3 EXON Missense_L329F exm1124755 14 95089956 [T/A] NM_001085 SERPINA3 EXON Missense_H359Q exm1823566 14 95090119 [A/G] NM_001085 SERPINA3 EXON Missense_M414V exm-rs9323913 14 95147310 [T/C] exm1124845 14 95236342 [T/C] NM_173849 GSC EXON Missense_S4N exm1124848 14 95556961 [A/G] NM_030621,NM_177438,NM_001195573,NM_001271282 DICER1,DICER1,DICER1,DICER1 EXON Synonymous_T1881T,Synonymous_T1881T,Missense_L1827P,Synonymous_T1881T exm1124864 14 95562347 [A/G] NM_030621,NM_177438,NM_001195573,NM_001271282 DICER1,DICER1,DICER1,DICER1 EXON Missense_S1637L,Missense_S1637L,Missense_S1637L,Missense_S1637L exm1124865 14 95562356 [A/G] NM_030621,NM_177438,NM_001195573,NM_001271282 DICER1,DICER1,DICER1,DICER1 EXON Missense_L1634S,Missense_L1634S,Missense_L1634S,Missense_L1634S exm1124867 14 95562366 [A/C] NM_030621,NM_177438,NM_001195573,NM_001271282 DICER1,DICER1,DICER1,DICER1 EXON Missense_S1631A,Missense_S1631A,Missense_S1631A,Missense_S1631A exm1124910 14 95569960 [A/G] NM_030621,NM_177438,NM_001195573,NM_001271282 DICER1,DICER1,DICER1,DICER1 EXON Missense_M1258T,Missense_M1258T,Missense_M1258T,Missense_M1258T exm1124912 14 95570059 [T/C] NM_030621,NM_177438,NM_001195573,NM_001271282 DICER1,DICER1,DICER1,DICER1 EXON Missense_Y1225C,Missense_Y1225C,Missense_Y1225C,Missense_Y1225C exm1124920 14 95570305 [A/G] NM_030621,NM_177438,NM_001195573,NM_001271282 DICER1,DICER1,DICER1,DICER1 EXON Missense_L1143P,Missense_L1143P,Missense_L1143P,Missense_L1143P exm1124921 14 95570341 [T/C] NM_030621,NM_177438,NM_001195573,NM_001271282 DICER1,DICER1,DICER1,DICER1 EXON Missense_N1131S,Missense_N1131S,Missense_N1131S,Missense_N1131S exm1124941 14 95574253 [T/C] NM_030621,NM_177438,NM_001195573,NM_001271282 DICER1,DICER1,DICER1,DICER1 EXON Missense_A872T,Missense_A872T,Missense_A872T,Missense_A872T exm1124943 14 95574310 [T/C] NM_030621,NM_177438,NM_001195573,NM_001271282 DICER1,DICER1,DICER1,DICER1 EXON Missense_I853V,Missense_I853V,Missense_I853V,Missense_I853V exm1124952-other 14 95578510 [A/G] NM_030621,NM_177438,NM_001195573,NM_001271282 DICER1,DICER1,DICER1,DICER1 EXON Synonymous_I705I,Synonymous_I705I,Synonymous_I705I,Synonymous_I705I exm1124952 14 95578510 [A/G] NM_030621,NM_177438,NM_001195573,NM_001271282 DICER1,DICER1,DICER1,DICER1 EXON Synonymous_I705I,Synonymous_I705I,Synonymous_I705I,Synonymous_I705I exm2222967 14 95579431 [T/C] NM_030621,NM_177438,NM_001195573,NM_001271282 DICER1,DICER1,DICER1,DICER1 EXON Missense_V680I,Missense_V680I,Missense_V680I,Missense_V680I exm1124969 14 95582086 [A/C] NM_030621,NM_177438,NM_001195573,NM_001271282 DICER1,DICER1,DICER1,DICER1 EXON Missense_D609Y,Missense_D609Y,Missense_D609Y,Missense_D609Y exm1124990 14 95590785 [C/G] NM_030621,NM_177438,NM_001195573,NM_001271282 DICER1,DICER1,DICER1,DICER1 EXON Missense_P375R,Missense_P375R,Missense_P375R,Missense_P375R exm1125005 14 95596483 [T/C] NM_030621,NM_177438,NM_001195573,NM_001271282 DICER1,DICER1,DICER1,DICER1 EXON Missense_G162D,Missense_G162D,Missense_G162D,Missense_G162D exm1125013 14 95599737 [A/G] NM_030621,NM_177438,NM_001195573,NM_001271282 DICER1,DICER1,DICER1,DICER1 EXON Missense_A20V,Missense_A20V,Missense_A20V,Missense_A20V exm1125014 14 95599776 [T/C] NM_030621,NM_177438,NM_001195573,NM_001271282 DICER1,DICER1,DICER1,DICER1 EXON Missense_Q7R,Missense_Q7R,Missense_Q7R,Missense_Q7R exm1125018 14 95657901 [T/G] NM_024734 CLMN EXON Missense_X1003C exm1125021 14 95658022 [A/G] NM_024734 CLMN EXON Missense_P963L exm1125031 14 95662845 [A/T] NM_024734 CLMN EXON Missense_I900F exm1125045 14 95669187 [T/C] NM_024734 CLMN EXON Missense_M833I exm1125055 14 95669374 [T/G] NM_024734 CLMN EXON Missense_E771A exm1125074 14 95669666 [T/C] NM_024734 CLMN EXON Missense_G674R exm1125089 14 95670049 [A/G] NM_024734 CLMN EXON Missense_T546I exm1125091 14 95670080 [T/C] NM_024734 CLMN EXON Missense_D536N exm1823684 14 95670136 [T/C] NM_024734 CLMN EXON Missense_R517H exm1125098 14 95670221 [A/C] NM_024734 CLMN EXON Missense_V489F exm1125108 14 95670387 [A/G] NM_024734 CLMN EXON Synonymous_Y433Y exm1125110 14 95670424 [A/G] NM_024734 CLMN EXON Missense_P421L exm1125113 14 95670485 [T/G] NM_024734 CLMN EXON Missense_P401T exm1125120 14 95670574 [A/G] NM_024734 CLMN EXON Missense_A371V exm1125122 14 95670617 [T/C] NM_024734 CLMN EXON Missense_E357K exm1125125 14 95670676 [T/G] NM_024734 CLMN EXON Missense_T337N exm1125127 14 95670685 [T/C] NM_024734 CLMN EXON Missense_R334H exm1125131 14 95670749 [G/C] NM_024734 CLMN EXON Missense_R313G exm-rs1187614 14 95671871 [T/G] NM_024734 CLMN Silent exm1125135 14 95675791 [T/C] NM_024734 CLMN EXON Missense_E276K exm1125138 14 95677090 [T/G] NM_024734 CLMN EXON Missense_E245D exm1125141 14 95677169 [A/T] NM_024734 CLMN EXON Missense_L219Q exm1125143 14 95677188 [T/C] NM_024734 CLMN EXON Missense_G213S exm1125153 14 95681979 [A/T] NM_024734 CLMN EXON Missense_Q139L exm1125154 14 95682025 [C/G] NM_024734 CLMN EXON Missense_P124A exm1125159 14 95688059 [A/G] NM_024734 CLMN EXON Missense_A98V exm1125160 14 95688060 [T/C] NM_024734 CLMN EXON Missense_A98T exm1125163 14 95688092 [A/G] NM_024734 CLMN EXON Missense_S87L exm1125165 14 95688105 [T/C] NM_024734 CLMN EXON Missense_E83K exm-rs8014194 14 95720678 [T/A] NM_024734 CLMN Silent exm1125175 14 95786084 [T/C] NM_024734 CLMN EXON Missense_G16R exm1125187 14 95884218 [T/C] NM_152592 SYNE3 EXON Missense_N958S exm1125188 14 95884225 [A/C] NM_152592 SYNE3 EXON Missense_A956S exm1125189 14 95884255 [T/C] NM_152592 SYNE3 EXON Missense_I946V exm1125198 14 95884323 [A/G] NM_152592 SYNE3 EXON Missense_A923V exm1823725 14 95899610 [A/G] NM_152592 SYNE3 EXON Missense_S892F exm1125204 14 95899650 [A/G] NM_152592 SYNE3 EXON Missense_R879C exm1125208 14 95899694 [T/C] NM_152592 SYNE3 EXON Missense_R864H exm2222974 14 95903211 [G/C] NM_152592 SYNE3 EXON Missense_I828M exm1125219 14 95905434 [T/A] NM_152592 SYNE3 EXON Missense_N771I exm1125225 14 95905964 [T/C] NM_152592 SYNE3 EXON Missense_E744G exm1125226 14 95905972 [G/C] NM_152592 SYNE3 EXON Missense_R741S exm1125231 14 95906036 [A/G] NM_152592 SYNE3 EXON Missense_P720L exm1125233 14 95906095 [A/C] NM_152592 SYNE3 EXON Missense_K700N exm1125237 14 95906114 [A/C] NM_152592 SYNE3 EXON Missense_V694G exm1125239 14 95906276 [T/G] NM_152592 SYNE3 EXON Missense_A683D exm1125241 14 95906291 [A/G] NM_152592 SYNE3 EXON Missense_A678V exm1125243 14 95906300 [T/C] NM_152592 SYNE3 EXON Missense_R675Q exm1125244 14 95906315 [T/A] NM_152592 SYNE3 EXON Missense_K670M exm1125245 14 95906321 [A/G] NM_152592 SYNE3 EXON Missense_T668M exm1125259 14 95910923 [T/G] NM_152592 SYNE3 EXON Missense_P559T exm1125271 14 95912388 [A/G] NM_152592 SYNE3 EXON Missense_T497M exm1125272 14 95912414 [T/A] NM_152592 SYNE3 EXON Missense_E488D exm1125289 14 95918678 [A/G] NM_152592 SYNE3 EXON Missense_R394W exm1125298 14 95921714 [T/C] NM_152592 SYNE3 EXON Synonymous_S379S exm1125300 14 95921722 [A/G] NM_152592 SYNE3 EXON Missense_R377C exm1823762 14 95921869 [A/G] NM_152592 SYNE3 EXON Missense_R328W exm1125317 14 95921904 [T/C] NM_152592 SYNE3 EXON Nonsense_W316X exm1125319 14 95921914 [A/G] NM_152592 SYNE3 EXON Missense_R313C exm1125320 14 95921965 [T/C] NM_152592 SYNE3 EXON Missense_E296K exm1125321 14 95921988 [T/C] NM_152592 SYNE3 EXON Missense_R288Q exm1125331 14 95923590 [T/G] NM_152592 SYNE3 EXON Missense_A238E exm1125333 14 95923644 [T/C] NM_152592 SYNE3 EXON Missense_R220Q exm2272138 14 95931254 [T/C] NM_152592 SYNE3 Silent exm1125348 14 95932441 [A/G] NM_152592 SYNE3 EXON Nonsense_Q152X exm1125358 14 95934175 [A/C] NM_152592 SYNE3 EXON Missense_A92S exm1125367 14 95934286 [A/G] NM_152592 SYNE3 EXON Missense_P55S exm1125378 14 95942061 [A/G] NM_152592 SYNE3 EXON Missense_T33M exm1125410 14 96010424 [A/G] NM_016417 GLRX5 EXON Missense_A146T exm-rs8005962 14 96027153 [T/C] exm-rs4905366 14 96103099 [A/G] exm-rs8015016 14 96122408 [A/G] NR_028288 TCL6 Silent exm1125468 14 96152821 [T/C] NM_004918 TCL1B EXON Missense_S6F exm1125469 14 96152830 [T/C] NM_004918 TCL1B EXON Missense_L9P exm1125478 14 96157187 [A/G] NM_004918 TCL1B EXON Missense_G93R exm1125481 14 96157206 [T/C] NM_004918 TCL1B EXON Missense_A99V exm-rs7158782 14 96169131 [A/G] exm2267736 14 96171851 [A/G] exm1125494 14 96178130 [T/C] NM_021966,NM_001098725,NR_049726 TCL1A,TCL1A,TCL1A EXON Missense_V103M,Missense_V103M,Silent exm1125501 14 96178576 [T/C] NM_021966,NM_001098725,NR_049726 TCL1A,TCL1A,TCL1A EXON Missense_R93H,Missense_R93H,Silent exm1125507 14 96178688 [T/C] NM_021966,NM_001098725,NR_049726 TCL1A,TCL1A,TCL1A EXON Missense_V56I,Missense_V56I,Silent exm1125509 14 96178699 [T/C] NM_021966,NM_001098725,NR_049726 TCL1A,TCL1A,TCL1A EXON Missense_R52H,Missense_R52H,Silent exm1125525 14 96180373 [T/C] NM_021966,NM_001098725,NR_049726 TCL1A,TCL1A,TCL1A EXON Missense_V11I,Missense_V11I,Silent exm-rs2369304 14 96206070 [A/G] exm2252021 14 96537969 [T/C] NM_001252507 C14orf132 Silent exm2267737 14 96577787 [A/G] exm2252022 14 96682378 [A/G] NM_000623 BDKRB2 Silent exm1125535 14 96703484 [T/C] NM_000623 BDKRB2 EXON Missense_R14C exm1125537 14 96703491 [A/C] NM_000623 BDKRB2 EXON Missense_D16A exm1125562 14 96707048 [T/C] NM_000623 BDKRB2 EXON Missense_T128M exm1125570 14 96707179 [T/C] NM_000623 BDKRB2 EXON Missense_R172C exm1125573 14 96707287 [A/G] NM_000623 BDKRB2 EXON Missense_V208I exm1125585 14 96707527 [A/G] NM_000623 BDKRB2 EXON Missense_I288V exm1125592 14 96707584 [A/G] NM_000623 BDKRB2 EXON Missense_E307K exm1125597 14 96707668 [A/G] NM_000623 BDKRB2 EXON Missense_V335M exm1125598 14 96707675 [A/G] NM_000623 BDKRB2 EXON Missense_K337R exm1125603 14 96707710 [A/G] NM_000623 BDKRB2 EXON Missense_G349R exm1125604 14 96707711 [G/C] NM_000623 BDKRB2 EXON Missense_G349A exm1125606 14 96707726 [A/G] NM_000623 BDKRB2 EXON Missense_G354E exm2222983 14 96707839 [T/G] NM_000623 BDKRB2 EXON Missense_X392G exm1125618 14 96730074 [T/C] NM_000710 BDKRB1 EXON Missense_F19L exm1125626 14 96730141 [T/C] NM_000710 BDKRB1 EXON Missense_P41L exm1125642 14 96730440 [T/C] NM_000710 BDKRB1 EXON Missense_H141Y exm1125653 14 96730590 [G/C] NM_000710 BDKRB1 EXON Missense_L191V exm1125663 14 96730740 [A/G] NM_000710 BDKRB1 EXON Missense_G241R exm1125664 14 96730746 [T/C] NM_000710 BDKRB1 EXON Missense_R243C exm1125666 14 96730768 [T/C] NM_000710 BDKRB1 EXON Missense_A250V exm1125670 14 96730785 [A/G] NM_000710 BDKRB1 EXON Missense_V256M exm1125675 14 96730969 [A/G] NM_000710 BDKRB1 EXON Missense_R317Q exm1125681 14 96731073 [T/C] NM_000710 BDKRB1 EXON Missense_R352W exm1125691 14 96752219 [A/G] NM_018036 ATG2B EXON Missense_P2037L exm1125693 14 96756034 [C/G] NM_018036 ATG2B EXON Missense_L1989V exm1125695 14 96756058 [G/C] NM_018036 ATG2B EXON Missense_R1981G exm1125698 14 96756094 [T/C] NM_018036 ATG2B EXON Missense_I1969V exm1125719 14 96761321 [A/G] NM_018036 ATG2B EXON Missense_F1801S exm1125724 14 96761445 [T/C] NM_018036 ATG2B EXON Missense_K1760E exm1125733 14 96768380 [T/G] NM_018036 ATG2B EXON Missense_R1701S exm2222986 14 96769402 [T/C] NM_018036 ATG2B EXON Missense_N1678S exm1125739 14 96769477 [T/C] NM_018036 ATG2B EXON Missense_R1653H exm2222987 14 96769549 [T/C] NM_018036 ATG2B EXON Missense_C1629Y exm1125745 14 96770893 [T/C] NM_018036 ATG2B EXON Missense_N1594S exm1125747 14 96770897 [A/G] NM_018036 ATG2B EXON Missense_R1593C exm1125748 14 96770908 [T/G] NM_018036 ATG2B EXON Missense_T1589K exm1125749 14 96770930 [T/C] NM_018036 ATG2B EXON Missense_S1582G exm1125755 14 96771953 [A/G] NM_018036 ATG2B EXON Missense_P1569L exm1125756 14 96771959 [A/G] NM_018036 ATG2B EXON Missense_I1567T exm1125761 14 96772058 [A/G] NM_018036 ATG2B EXON Missense_T1534M exm1125762 14 96772059 [T/A] NM_018036 ATG2B EXON Missense_T1534S exm1125763 14 96772062 [T/C] NM_018036 ATG2B EXON Missense_D1533N exm1125765 14 96772091 [T/C] NM_018036 ATG2B EXON Missense_N1523S exm1125769 14 96773160 [A/C] NM_018036 ATG2B EXON Missense_G1466V exm1125771 14 96773164 [A/G] NM_018036 ATG2B EXON Missense_S1465P exm1125779 14 96775864 [T/C] NM_018036 ATG2B EXON Missense_R1410Q exm1125785 14 96777468 [C/G] NM_018036 ATG2B EXON Missense_Q1383E exm1125788 14 96777536 [A/G] NM_018036 ATG2B EXON Missense_I1360T exm1125803 14 96779462 [A/G] NM_018036 ATG2B EXON Missense_T1261I exm1125805 14 96779702 [A/G] NM_018036 ATG2B EXON Missense_F1238S exm1125807 14 96781513 [A/G] NM_018036 ATG2B EXON Missense_S1207F exm1125812 14 96781800 [T/C] NM_018036 ATG2B EXON Missense_D1161G exm1125815 14 96781849 [A/G] NM_018036 ATG2B EXON Missense_P1145S exm1125820 14 96781912 [T/C] NM_018036 ATG2B EXON Missense_N1124D exm1125821 14 96781918 [T/C] NM_018036 ATG2B EXON Missense_I1122V exm1823923 14 96782965 [T/C] NM_018036 ATG2B EXON Missense_N1089S exm1125831 14 96784037 [T/C] NM_018036 ATG2B EXON Missense_Y1012C exm1125834 14 96784164 [A/G] NM_018036 ATG2B EXON Missense_P970S exm1125835 14 96788476 [T/G] NM_018036 ATG2B EXON Missense_K951T exm1125838 14 96788509 [A/G] NM_018036 ATG2B EXON Missense_T940M exm1125854 14 96794694 [T/C] NM_018036 ATG2B EXON Missense_H718R exm1125861 14 96795838 [A/G] NM_018036 ATG2B EXON Missense_P622S exm1125862 14 96795885 [T/C] NM_018036 ATG2B EXON Missense_Q606R exm1125863 14 96795918 [A/G] NM_018036 ATG2B EXON Missense_S595F exm1125865 14 96795943 [A/G] NM_018036 ATG2B EXON Missense_Y587H exm1823950 14 96797857 [A/G] NM_018036 ATG2B EXON Missense_T529M exm1125871 14 96797867 [G/C] NM_018036 ATG2B EXON Missense_P526A exm1125875 14 96798674 [T/C] NM_018036 ATG2B EXON Missense_N479S exm1125876 14 96798680 [A/G] NM_018036 ATG2B EXON Missense_P477L exm1823955 14 96798705 [G/C] NM_018036 ATG2B EXON Missense_Q469E exm1125880 14 96798840 [T/C] NM_018036 ATG2B EXON Missense_V454M exm1125884 14 96798903 [A/G] NM_018036 ATG2B EXON Missense_L433F exm1125889 14 96800027 [T/C] NM_018036 ATG2B EXON Missense_R402H exm2222990 14 96800780 [T/G] NM_018036 ATG2B EXON Missense_H328P exm1125899 14 96807959 [A/G] NM_018036 ATG2B EXON Missense_P275L exm1125901 14 96808019 [A/G] NM_018036 ATG2B EXON Missense_S255L exm1125903 14 96809461 [A/G] NM_018036 ATG2B EXON Missense_P247S exm1125906 14 96809547 [T/C] NM_018036 ATG2B EXON Missense_H218R exm1125914 14 96811065 [T/C] NM_018036 ATG2B EXON Missense_I169M exm1125920 14 96813521 [T/C] NM_018036 ATG2B EXON Missense_R107H exm1125921 14 96813533 [T/C] NM_018036 ATG2B EXON Missense_R103Q exm1125935 14 96848757 [A/G] NM_001271906,NM_016472,NM_001271905,NM_001271904 GSKIP,GSKIP,GSKIP,GSKIP EXON Missense_R58Q,Missense_R58Q,Missense_R58Q,Missense_R58Q exm1125940 14 96852010 [A/G] NM_001271906,NM_016472,NM_001271905,NM_001271904 GSKIP,GSKIP,GSKIP,GSKIP EXON Missense_G137R,Missense_G137R,Missense_G137R,Missense_G137R exm1125953 14 96864529 [A/C] NM_152327 AK7 EXON Missense_T75P exm1125956 14 96864548 [T/C] NM_152327 AK7 EXON Missense_T81M exm1125957 14 96864571 [T/C] NM_152327 AK7 EXON Missense_R89W exm1125966 14 96871104 [A/G] NM_152327 AK7 EXON Missense_R102Q exm1125967 14 96871109 [T/G] NM_152327 AK7 EXON Missense_D104Y exm1125974 14 96875235 [T/C] NM_152327 AK7 EXON Missense_L152P exm1125981 14 96887256 [A/G] NM_152327 AK7 EXON Missense_K199R exm2274721 14 96904193 [A/G] NM_152327 AK7 EXON Missense_V211I exm1125984 14 96904221 [T/C] NM_152327 AK7 EXON Missense_A220V exm1125997 14 96912870 [A/G] NM_152327 AK7 EXON Missense_I266V exm1125998 14 96912892 [A/G] NM_152327 AK7 EXON Missense_H273R exm1126012 14 96917887 [A/G] NM_152327 AK7 EXON Missense_K360E exm1126016 14 96922729 [A/G] NM_152327 AK7 EXON Missense_S382G exm1126018 14 96922738 [A/G] NM_152327 AK7 EXON Missense_K385E exm1126019 14 96922752 [G/C] NM_152327 AK7 EXON Missense_N389K exm1126020 14 96922766 [A/G] NM_152327 AK7 EXON Missense_H394R exm1126036 14 96944807 [A/G] NM_152327 AK7 EXON Missense_V521I exm1126038 14 96944843 [A/G] NM_152327 AK7 EXON Missense_E533K exm1126042 14 96944901 [A/G] NM_152327 AK7 EXON Missense_R552Q exm1126043 14 96944903 [T/A] NM_152327 AK7 EXON Missense_F553I exm1126054 14 96949386 [T/A] NM_152327 AK7 EXON Missense_I602F exm1126055 14 96949427 [A/C] NM_152327 AK7 EXON Missense_D615E exm1126056 14 96949428 [A/G] NM_152327 AK7 EXON Missense_E616K exm1126057 14 96949449 [T/C] NM_152327 AK7 EXON Missense_R623W exm1126061 14 96949518 [A/G] NM_152327 AK7 EXON Missense_V646M exm1126067 14 96953278 [T/C] NM_152327 AK7 EXON Missense_L673P exm1126068 14 96953284 [T/C] NM_152327 AK7 EXON Missense_A675V exm1126069 14 96953290 [G/C] NM_152327 AK7 EXON Nonsense_S677X exm1126104 14 96997922 [T/C] NM_001252006,NM_032632,NM_001252007 PAPOLA,PAPOLA,PAPOLA EXON Synonymous_N202N,Synonymous_N202N,Synonymous_N202N exm1126124 14 97018910 [A/G] NM_032632 PAPOLA EXON Missense_T539A exm2223000 14 97029166 [A/C] NM_032632 PAPOLA EXON Missense_D693A exm-rs17094273 14 97103807 [A/G] exm-rs11624336 14 97193512 [A/G] exm1126149 14 97304113 [T/G] NM_003384 VRK1 EXON Missense_S59A exm1126165 14 97319498 [A/G] NM_003384 VRK1 EXON Missense_D191N exm1126169 14 97321591 [T/C] NM_003384 VRK1 EXON Missense_R203W exm1126173 14 97321689 [T/C] NM_003384 VRK1 EXON Synonymous_G235G exm2252023 14 97321689 [T/C] NM_003384 VRK1 EXON Synonymous_G235G exm1126180 14 97322892 [T/G] NM_003384 VRK1 EXON Missense_M286I exm1126183 14 97326905 [A/G] NM_003384 VRK1 EXON Missense_K301E exm1126187 14 97327025 [T/C] NM_003384 VRK1 EXON Missense_L341F exm1126191 14 97342448 [A/G] NM_003384 VRK1 EXON Missense_I384V exm-rs4905558 14 97345806 [A/G] NM_003384 VRK1 Silent exm2272140 14 97377993 [T/C] exm2267738 14 97555659 [A/G] exm2252025 14 97650049 [A/G] exm-rs12890644 14 98113485 [A/G] NR_033943 LOC100129345 Silent exm2260394 14 98151784 [A/G] NR_033943 LOC100129345 Silent exm-rs1471356 14 98303331 [A/G] exm2272141 14 98352431 [T/C] exm2267686 14 98486883 [A/G] exm-rs4900384 14 98498951 [A/G] exm-rs10484128 14 98642572 [T/C] exm-rs1459148 14 98840443 [T/C] exm2272142 14 99157430 [T/C] exm1126211 14 99182535 [T/C] NM_182560 C14orf177 EXON Missense_R3W exm1126212 14 99182536 [A/G] NM_182560 C14orf177 EXON Missense_R3Q exm1126214 14 99182559 [A/G] NM_182560 C14orf177 EXON Missense_E11K exm1126217 14 99182616 [T/C] NM_182560 C14orf177 EXON Missense_R30C exm1126218 14 99182626 [T/C] NM_182560 C14orf177 EXON Missense_V33A exm1824095 14 99182728 [A/G] NM_182560 C14orf177 Silent exm1126227 14 99183435 [A/G] NM_182560 C14orf177 EXON Missense_E68K exm1126231 14 99183516 [T/C] NM_182560 C14orf177 EXON Nonsense_Q95X exm1126233 14 99183532 [T/C] NM_182560 C14orf177 EXON Missense_S100L exm2260396 14 99400269 [A/G] exm-rs2895736 14 99485572 [T/C] exm1126264 14 99641315 [A/G] NM_022898,NM_138576 BCL11B,BCL11B EXON Missense_R549C,Missense_R620C exm1126326 14 99723942 [A/G] NM_022898,NM_138576 BCL11B,BCL11B EXON Missense_P98L,Missense_P98L exm2252029 14 99863065 [T/C] exm1126357 14 99865109 [C/G] NM_032233 SETD3 EXON Missense_R564S exm1126358 14 99865110 [G/C] NM_032233 SETD3 EXON Missense_R564T exm1126366 14 99865333 [A/G] NM_032233 SETD3 EXON Missense_R490C exm1126371 14 99865435 [T/C] NM_032233 SETD3 EXON Missense_D456N exm1126392 14 99871678 [T/C] NM_032233 SETD3 EXON Missense_A319T exm1126399 14 99876522 [T/C] NM_032233,NM_199123 SETD3,SETD3 EXON Silent,Missense_A294T exm1126401 14 99876545 [T/G] NM_032233,NM_199123 SETD3,SETD3 EXON Silent,Missense_E286A exm1126406 14 99879382 [A/G] NM_032233,NM_199123 SETD3,SETD3 EXON Missense_M252T,Missense_M252T exm1126423 14 99924868 [A/G] NM_032233,NM_199123 SETD3,SETD3 EXON Synonymous_P141P,Synonymous_P141P exm2252030 14 99924868 [A/G] NM_032233,NM_199123 SETD3,SETD3 EXON Synonymous_P141P,Synonymous_P141P exm1126426 14 99927530 [T/C] NM_032233,NM_199123 SETD3,SETD3 EXON Missense_K115R,Missense_K115R exm1126429 14 99927669 [T/C] NM_032233,NM_199123 SETD3,SETD3 EXON Missense_V69I,Missense_V69I exm1126453 14 99967712 [A/G] NM_001099402 CCNK EXON Synonymous_Q179Q exm2252031 14 99967712 [A/G] NM_001099402 CCNK EXON Synonymous_Q179Q exm1126480 14 99976710 [A/G] NM_001099402 CCNK EXON Missense_Q445R exm1126500 14 99983489 [A/G] NM_001144995 CCDC85C EXON Missense_S336L exm1126506 14 99988570 [G/C] NM_001144995 CCDC85C EXON Missense_G292A exm2267687 14 100087364 [A/G] exm1126527 14 100118594 [A/G] NM_001127258,NM_032425 HHIPL1,HHIPL1 EXON Missense_A97T,Missense_A97T exm1126538 14 100118745 [A/G] NM_001127258,NM_032425 HHIPL1,HHIPL1 EXON Missense_R147H,Missense_R147H exm1126547 14 100118886 [A/G] NM_001127258,NM_032425 HHIPL1,HHIPL1 EXON Missense_R194H,Missense_R194H exm1126560 14 100119139 [T/G] NM_001127258,NM_032425 HHIPL1,HHIPL1 EXON Missense_E278D,Missense_E278D exm1126585 14 100126036 [C/G] NM_001127258,NM_032425 HHIPL1,HHIPL1 EXON Missense_R440G,Missense_R440G exm1126597 14 100129213 [T/G] NM_001127258,NM_032425 HHIPL1,HHIPL1 EXON Synonymous_G501G,Synonymous_G501G exm1126601 14 100129283 [C/G] NM_001127258,NM_032425 HHIPL1,HHIPL1 EXON Missense_G525R,Missense_G525R exm1126603 14 100129334 [T/A] NM_001127258,NM_032425 HHIPL1,HHIPL1 EXON Missense_I542F,Missense_I542F exm1126606 14 100129357 [T/C] NM_001127258,NM_032425 HHIPL1,HHIPL1 EXON Synonymous_A549A,Synonymous_A549A exm-rs2895811 14 100133942 [T/C] NM_001127258,NM_032425 HHIPL1,HHIPL1 Silent,Silent exm1126610 14 100134609 [A/G] NM_001127258,NM_032425 HHIPL1,HHIPL1 EXON Missense_G567R,Missense_G567R exm1126611 14 100134639 [A/G] NM_001127258,NM_032425 HHIPL1,HHIPL1 EXON Missense_R577G,Missense_S577G exm1126615 14 100135215 [A/G] NM_001127258,NM_032425 HHIPL1,HHIPL1 EXON Silent,Missense_V593M exm1126639 14 100157471 [A/G] NM_006668 CYP46A1 EXON Missense_R58H exm1126658 14 100182238 [A/G] NM_006668 CYP46A1 EXON Missense_R262Q exm1126669 14 100188386 [A/G] NM_006668 CYP46A1 EXON Missense_G387S exm1126696 14 100331926 [A/G] NM_004434,NM_001008707 EML1,EML1 EXON Missense_G109D,Missense_G109D exm1126716 14 100363561 [A/G] NM_004434,NM_001008707 EML1,EML1 EXON Missense_V253M,Missense_V272M exm1126732 14 100374020 [A/G] NM_004434,NM_001008707 EML1,EML1 EXON Missense_V352M,Missense_V371M exm1126734 14 100375707 [T/C] NM_004434,NM_001008707 EML1,EML1 EXON Missense_A377V,Missense_A396V exm1126751 14 100380948 [T/C] NM_004434,NM_001008707 EML1,EML1 EXON Missense_S556P,Missense_S575P exm1126776 14 100405581 [T/C] NM_004434,NM_001008707 EML1,EML1 EXON Missense_R747W,Missense_R766W exm1126777 14 100405588 [A/G] NM_004434,NM_001008707 EML1,EML1 EXON Missense_H749R,Missense_H768R exm1126790 14 100406439 [A/G] NM_004434,NM_001008707 EML1,EML1 EXON Missense_R813H,Missense_R832H exm1126791 14 100406441 [A/G] NM_004434,NM_001008707 EML1,EML1 EXON Missense_V814I,Missense_V833I exm2260283 14 100422683 [T/C] exm1126813 14 100563995 [A/G] NM_016337 EVL EXON Missense_G120S exm1126838 14 100595047 [A/G] NM_016337 EVL EXON Missense_A227T exm1126844 14 100595924 [A/G] NM_016337 EVL EXON Missense_S248G exm1126845 14 100595957 [T/C] NM_016337 EVL EXON Missense_R259W exm1126855 14 100602266 [C/G] NM_016337 EVL EXON Missense_P309A exm1126897 14 100615546 [A/G] NM_206918 DEGS2 EXON Missense_A195V exm1126898 14 100615561 [A/G] NM_206918 DEGS2 EXON Missense_T190M exm1126900 14 100615586 [T/C] NM_206918 DEGS2 EXON Missense_V182M exm1126906 14 100615690 [T/C] NM_206918 DEGS2 EXON Missense_R147H exm1126907 14 100615691 [T/G] NM_206918 DEGS2 EXON Missense_R147S exm1126917 14 100615802 [T/C] NM_206918 DEGS2 EXON Missense_V110M exm1126920 14 100615828 [T/C] NM_206918 DEGS2 EXON Missense_R101H exm1126930 14 100615943 [T/C] NM_206918 DEGS2 EXON Missense_G63R exm1126941 14 100625902 [T/C] NM_206918 DEGS2 EXON Missense_S8N exm1126957 14 100706002 [A/G] NM_003403 YY1 EXON Missense_G141S exm1126969 14 100728688 [A/G] NM_003403 YY1 EXON Missense_I243V exm1126973 14 100728769 [A/C] NM_003403 YY1 EXON Missense_L270I exm1127009 14 100759090 [A/G] NM_001039355 SLC25A29 EXON Missense_R148C exm1127027 14 100759642 [T/G] NM_001039355 SLC25A29 EXON Missense_K51Q exm1127029 14 100759690 [T/C] NM_001039355 SLC25A29 EXON Missense_E35K exm2272144 14 100784970 [T/C] exm1127057 14 100792126 [T/C] NM_207117 SLC25A47 EXON Synonymous_G10G exm1127060 14 100792507 [T/C] NM_207117 SLC25A47 EXON Missense_T29M exm1127063 14 100792537 [A/G] NM_207117 SLC25A47 EXON Missense_C39Y exm1127065 14 100792549 [T/C] NM_207117 SLC25A47 EXON Missense_T43M exm1127066 14 100793553 [T/C] NM_207117 SLC25A47 EXON Missense_L58P exm1127072 14 100793633 [T/C] NM_207117 SLC25A47 EXON Missense_R85W exm1127081 14 100793702 [A/G] NM_207117 SLC25A47 EXON Missense_V108I exm1127091 14 100795111 [T/C] NM_207117 SLC25A47 EXON Nonsense_Q126X exm1127094 14 100795139 [T/G] NM_207117 SLC25A47 EXON Missense_R135L exm1127096 14 100795151 [T/C] NM_207117 SLC25A47 EXON Missense_S139L exm1127103 14 100795265 [G/C] NM_207117 SLC25A47 EXON Missense_G177A exm1127117 14 100795375 [T/C] NM_207117 SLC25A47 EXON Missense_R214W exm1127125 14 100795821 [T/C] NM_207117 SLC25A47 EXON Missense_R256W exm1127129 14 100795869 [T/C] NM_207117 SLC25A47 EXON Missense_R272W exm1127131 14 100795905 [T/C] NM_207117 SLC25A47 EXON Missense_R284C exm1127139 14 100795978 [T/C] NM_207117 SLC25A47 EXON Missense_T308I exm1127149 14 100801331 [T/C] NM_213646,NM_004184,NM_173701,NM_213645 WARS,WARS,WARS,WARS EXON Missense_A392T,Missense_A433T,Missense_A433T,Missense_A392T exm1127154 14 100803422 [T/C] NM_213646,NM_004184,NM_173701,NM_213645 WARS,WARS,WARS,WARS EXON Missense_D370N,Missense_D411N,Missense_D411N,Missense_D370N exm2251626 14 100803423 [A/G] NM_213646,NM_004184,NM_173701,NM_213645 WARS,WARS,WARS,WARS EXON Synonymous_D369D,Synonymous_D410D,Synonymous_D410D,Synonymous_D369D exm1127163 14 100808810 [C/G] NM_213646,NM_004184,NM_173701,NM_213645 WARS,WARS,WARS,WARS EXON Synonymous_A305A,Synonymous_A346A,Synonymous_A346A,Synonymous_A305A exm1127166 14 100808859 [A/G] NM_213646,NM_004184,NM_173701,NM_213645 WARS,WARS,WARS,WARS EXON Missense_P289L,Missense_P330L,Missense_P330L,Missense_P289L exm1127182 14 100820803 [T/C] NM_213646,NM_004184,NM_173701,NM_213645 WARS,WARS,WARS,WARS EXON Missense_I134V,Missense_I175V,Missense_I175V,Missense_I134V exm1127186 14 100820880 [T/G] NM_213646,NM_004184,NM_173701,NM_213645 WARS,WARS,WARS,WARS EXON Missense_A108D,Missense_A149D,Missense_A149D,Missense_A108D exm2221920 14 100828198 [A/C] NM_213646,NM_004184,NM_173701,NM_213645 WARS,WARS,WARS,WARS EXON Missense_A13S,Missense_A54S,Missense_A54S,Missense_A13S exm1127198 14 100835498 [G/C] NM_213646,NM_004184,NM_173701,NM_213645 WARS,WARS,WARS,WARS EXON Silent,Missense_L9V,Missense_L9V,Silent exm-rs3783347 14 100839261 [T/G] NM_213646,NM_004184,NM_173701,NM_213645 WARS,WARS,WARS,WARS Silent,Silent,Silent,Silent exm1803159 14 100847281 [A/C] NM_001161476,NM_024515 WDR25,WDR25 EXON Missense_S7Y,Missense_S7Y exm1127205 14 100847320 [T/C] NM_001161476,NM_024515 WDR25,WDR25 EXON Missense_S20L,Missense_S20L exm1127206 14 100847338 [A/G] NM_001161476,NM_024515 WDR25,WDR25 EXON Missense_H26R,Missense_H26R exm1127208 14 100847365 [A/G] NM_001161476,NM_024515 WDR25,WDR25 EXON Missense_Q35R,Missense_Q35R exm1127211 14 100847397 [T/C] NM_001161476,NM_024515 WDR25,WDR25 EXON Missense_P46S,Missense_P46S exm1127212 14 100847437 [A/G] NM_001161476,NM_024515 WDR25,WDR25 EXON Missense_K59R,Missense_K59R exm1127213 14 100847443 [A/G] NM_001161476,NM_024515 WDR25,WDR25 EXON Missense_G61E,Missense_G61E exm1127214 14 100847461 [A/C] NM_001161476,NM_024515 WDR25,WDR25 EXON Missense_H67P,Missense_H67P exm1127215 14 100847523 [T/C] NM_001161476,NM_024515 WDR25,WDR25 EXON Missense_W88R,Missense_W88R exm1127220 14 100847617 [T/C] NM_001161476,NM_024515 WDR25,WDR25 EXON Missense_T119M,Missense_T119M exm1127222 14 100847631 [A/G] NM_001161476,NM_024515 WDR25,WDR25 EXON Missense_A124T,Missense_A124T exm1127225 14 100847658 [T/C] NM_001161476,NM_024515 WDR25,WDR25 EXON Missense_R133C,Missense_R133C exm1127227 14 100847682 [A/G] NM_001161476,NM_024515 WDR25,WDR25 EXON Missense_R141G,Missense_R141G exm1127228 14 100847707 [A/G] NM_001161476,NM_024515 WDR25,WDR25 EXON Missense_H149R,Missense_H149R exm1127230 14 100847730 [A/G] NM_001161476,NM_024515 WDR25,WDR25 EXON Missense_V157I,Missense_V157I exm1127239 14 100847871 [A/G] NM_001161476,NM_024515 WDR25,WDR25 EXON Missense_A204T,Missense_A204T exm1127240 14 100847878 [A/G] NM_001161476,NM_024515 WDR25,WDR25 EXON Missense_R206H,Missense_R206H exm1127243 14 100847905 [T/C] NM_001161476,NM_024515 WDR25,WDR25 EXON Missense_P215L,Missense_P215L exm1127254 14 100934430 [T/C] NM_001161476,NM_024515 WDR25,WDR25 EXON Missense_R299W,Missense_R299W exm1127255 14 100934431 [A/G] NM_001161476,NM_024515 WDR25,WDR25 EXON Missense_R299Q,Missense_R299Q exm1127256 14 100934449 [A/G] NM_001161476,NM_024515 WDR25,WDR25 EXON Missense_R305Q,Missense_R305Q exm1127262 14 100992261 [T/C] NM_001161476,NM_024515 WDR25,WDR25 EXON Missense_R386W,Missense_R386W exm1127266 14 100992343 [T/G] NM_001161476,NM_024515 WDR25,WDR25 EXON Missense_R413L,Missense_R413L exm1127280 14 100996293 [A/C] NM_001161476,NM_024515 WDR25,WDR25 EXON Missense_A517D,Missense_A517D exm2267688 14 101002149 [A/G] exm1127293 14 101004406 [A/C] NM_001159531,NM_020836 BEGAIN,BEGAIN EXON Missense_R561L,Missense_R561L exm1127318 14 101005081 [T/C] NM_001159531,NM_020836 BEGAIN,BEGAIN EXON Missense_R336H,Missense_R336H exm1127336 14 101005372 [T/C] NM_001159531,NM_020836 BEGAIN,BEGAIN EXON Missense_R239Q,Missense_R239Q exm1127344 14 101005562 [T/C] NM_001159531,NM_020836 BEGAIN,BEGAIN EXON Missense_D176N,Missense_D176N exm-rs6575793 14 101032217 [T/C] NM_001159531,NM_020836 BEGAIN,BEGAIN Silent,Silent exm-rs12883126 14 101134008 [T/C] NR_024096 LINC00523 Silent exm-rs730570 14 101142890 [A/G] exm1127383 14 101194777 [A/G] NM_003836 DLK1 EXON Missense_E38K exm1127386 14 101195335 [A/G] NM_003836 DLK1 EXON Missense_H65R exm1127388 14 101195347 [A/G] NM_003836 DLK1 EXON Missense_G69E exm1127390 14 101195359 [T/A] NM_003836 DLK1 EXON Missense_Q73L exm1127397 14 101198417 [A/G] NM_003836 DLK1 EXON Missense_R101G exm1127406 14 101200514 [T/G] NM_003836 DLK1 EXON Missense_V145L exm1127416 14 101200701 [A/G] NM_003836 DLK1 EXON Missense_R207H exm1127417 14 101200704 [T/C] NM_003836 DLK1 EXON Missense_P208L exm1127429 14 101200860 [A/G] NM_003836 DLK1 EXON Missense_S260N exm1127432 14 101200953 [A/C] NM_003836 DLK1 EXON Missense_E291A exm1127433 14 101200955 [T/C] NM_003836 DLK1 EXON Missense_L292F exm2251629 14 101201026 [T/C] NM_003836 DLK1 EXON Synonymous_S315S exm1127438 14 101201112 [A/G] NM_003836 DLK1 EXON Missense_R344Q exm1127446 14 101201219 [G/C] NM_003836 DLK1 EXON Missense_D380H exm-rs1884537 14 101251989 [T/C] exm1127467 14 101347090 [T/C] NM_001134888 RTL1 EXON Missense_E1346K exm1127477 14 101347375 [T/C] NM_001134888,NR_029965 RTL1,MIR431 EXON Missense_G1251S,Silent exm1127479 14 101347423 [T/C] NM_001134888,NR_029965 RTL1,MIR431 EXON Missense_A1235T,Silent exm1127483 14 101347482 [T/C] NM_001134888 RTL1 EXON Missense_R1215H exm1127489 14 101347588 [A/G] NM_001134888 RTL1 EXON Missense_S1180P exm1127496 14 101347762 [A/G] NM_001134888 RTL1 EXON Missense_R1122C exm1127498 14 101347786 [A/G] NM_001134888 RTL1 EXON Missense_R1114W exm1127499 14 101347803 [T/C] NM_001134888 RTL1 EXON Missense_R1108Q exm1127501 14 101347825 [C/G] NM_001134888 RTL1 EXON Missense_V1101L exm1127505 14 101348158 [T/C] NM_001134888 RTL1 EXON Missense_G990S exm1127511 14 101348572 [T/C] NM_001134888 RTL1 EXON Missense_A852T exm1127512 14 101348584 [C/G] NM_001134888 RTL1 EXON Missense_E848Q exm1127524 14 101349454 [T/G] NM_001134888 RTL1 EXON Missense_P558T exm1127537 14 101349912 [T/C] NM_001134888 RTL1 EXON Missense_N405S exm1127539 14 101349931 [T/C] NM_001134888 RTL1 EXON Missense_E399K exm-rs3825569 14 101350298 [T/C] NM_001134888 RTL1 EXON Synonymous_E276E exm1127547 14 101350342 [T/G] NM_001134888 RTL1 EXON Missense_P262T exm1127555 14 101350935 [T/C] NM_001134888 RTL1 EXON Missense_Q64R exm1127557 14 101351011 [T/G] NM_001134888 RTL1 EXON Missense_S39R exm2260284 14 101510060 [T/C] exm-rs8015875 14 101533288 [A/G] exm2267689 14 101668606 [A/G] exm-rs8019453 14 101910778 [T/C] exm2272145 14 101960648 [T/C] exm1127906 14 102027868 [A/G] NM_001362 DIO3 EXON Missense_G12E exm1127917 14 102028147 [A/G] NM_001362 DIO3 EXON Missense_D105G exm2272196 14 102183359 [T/C] exm1127963 14 102323220 [A/G] NM_001161726,NM_001161725,NM_002719,NM_178586,NM_178587 PPP2R5C,PPP2R5C,PPP2R5C,PPP2R5C,PPP2R5C EXON Missense_M153V,Missense_M129V,Missense_M98V,Missense_M98V,Missense_M98V exm-rs7142002 14 102360745 [T/C] NM_001161726,NM_001161725,NM_002719,NM_178586,NM_178587 PPP2R5C,PPP2R5C,PPP2R5C,PPP2R5C,PPP2R5C Silent,Silent,Silent,Silent,Silent exm1127995 14 102378803 [A/G] NM_001161726,NM_001161725,NM_002719,NM_178586,NM_178587 PPP2R5C,PPP2R5C,PPP2R5C,PPP2R5C,PPP2R5C EXON Missense_N495S,Missense_N471S,Missense_N440S,Missense_N440S,Missense_N440S exm1127996 14 102378821 [A/C] NM_001161726,NM_001161725,NM_002719,NM_178586,NM_178587 PPP2R5C,PPP2R5C,PPP2R5C,PPP2R5C,PPP2R5C EXON Silent,Silent,Silent,Silent,Missense_K446T exm1127998 14 102384258 [A/C] NM_001161726,NM_001161725,NM_002719,NM_178586 PPP2R5C,PPP2R5C,PPP2R5C,PPP2R5C EXON Silent,Missense_K504Q,Missense_K473Q,Silent exm1128004 14 102391518 [T/G] NM_001161726,NM_001161725,NM_002719,NM_178586 PPP2R5C,PPP2R5C,PPP2R5C,PPP2R5C EXON Missense_R511L,Missense_R526L,Missense_R495L,Missense_R456L exm1128005 14 102391577 [C/G] NM_001161726,NM_001161725,NM_002719,NM_178586 PPP2R5C,PPP2R5C,PPP2R5C,PPP2R5C EXON Missense_A531P,Missense_A546P,Missense_A515P,Missense_A476P exm1128029 14 102445720 [A/G] NM_001376 DYNC1H1 EXON Missense_V137I exm1128031 14 102445768 [A/G] NM_001376 DYNC1H1 EXON Missense_I153V exm-rs4906172 14 102454933 [A/C] NM_001376 DYNC1H1 Silent exm1128159 14 102471433 [A/G] NM_001376 DYNC1H1 EXON Missense_A1765T exm2251632 14 102471435 [A/G] NM_001376 DYNC1H1 EXON Synonymous_A1765A exm1128165 14 102471466 [A/G] NM_001376 DYNC1H1 EXON Missense_A1776T exm1128172 14 102473346 [A/C] NM_001376 DYNC1H1 EXON Synonymous_G1906G exm1128176 14 102474668 [A/G] NM_001376 DYNC1H1 EXON Missense_D1991N exm1128206 14 102481619 [T/C] NM_001376 DYNC1H1 EXON Missense_R2398C exm1128207 14 102481630 [A/C] NM_001376 DYNC1H1 EXON Missense_K2401N exm1803507 14 102482413 [A/G] NM_001376 DYNC1H1 EXON Missense_R2488H exm1128234 14 102483555 [T/G] NM_001376 DYNC1H1 EXON Missense_V2660G exm1128284 14 102496216 [C/G] NM_001376 DYNC1H1 EXON Missense_A3235P exm1128304 14 102500421 [A/C] NM_001376 DYNC1H1 EXON Missense_L3508I exm1128338 14 102506647 [T/C] NM_001376 DYNC1H1 EXON Missense_P3922L exm1128348 14 102508056 [A/C] NM_001376 DYNC1H1 EXON Missense_H4029Q exm1128365 14 102510282 [A/G] NM_001376 DYNC1H1 EXON Missense_R4195Q exm1128389 14 102510968 [T/C] NM_001376 DYNC1H1 EXON Synonymous_P4313P exm2251634 14 102510968 [T/C] NM_001376 DYNC1H1 EXON Synonymous_P4313P exm1128397 14 102514235 [A/C] NM_001376 DYNC1H1 EXON Missense_K4363T exm1128407 14 102514328 [T/C] NM_001376 DYNC1H1 EXON Missense_T4394M exm1128408 14 102514339 [T/C] NM_001376 DYNC1H1 EXON Missense_L4398F exm1128411 14 102514949 [A/G] NM_001376 DYNC1H1 EXON Missense_E4439K exm1128430 14 102516202 [A/G] NM_001376 DYNC1H1 EXON Missense_C4556Y exm1128440 14 102516531 [T/G] NM_001376 DYNC1H1 EXON Missense_S4603I exm2273523 14 102548006 [A/C] NM_005348,NM_001017963 HSP90AA1,HSP90AA1 EXON Silent,Silent exm2251636 14 102548545 [A/G] NM_005348,NM_001017963 HSP90AA1,HSP90AA1 EXON Synonymous_I664I,Synonymous_I786I exm1803665 14 102550172 [A/C] NM_005348,NM_001017963 HSP90AA1,HSP90AA1 EXON Missense_E432D,Missense_E554D exm1803679 14 102551244 [A/G] NM_005348,NM_001017963 HSP90AA1,HSP90AA1 EXON Missense_S252L,Missense_S374L exm1128536 14 102552359 [A/G] NM_005348,NM_001017963 HSP90AA1,HSP90AA1 EXON Missense_L89F,Missense_L211F exm1128545 14 102552684 [A/G] NM_005348,NM_001017963 HSP90AA1,HSP90AA1 EXON Missense_P11L,Missense_P133L exm1128553 14 102568258 [T/C] NM_001017963 HSP90AA1 EXON Missense_Q107R exm1128554 14 102568259 [A/G] NM_001017963 HSP90AA1 EXON Nonsense_Q107X exm1128556 14 102568295 [T/C] NM_001017963 HSP90AA1 EXON Missense_A95T exm1128559 14 102568367 [A/T] NM_001017963 HSP90AA1 EXON Missense_M71L exm1128572 14 102605705 [A/G] NM_001017963 HSP90AA1 EXON Missense_P13S exm1128575 14 102606342 [T/C] NM_144574,NR_038354,NM_001242415,NM_001242414,NM_181291,NM_001242416,NM_001242417,NM_001242418,NM_181308 WDR20,WDR20,WDR20,WDR20,WDR20,WDR20,WDR20,WDR20,WDR20 EXON Missense_P28S,Silent,Missense_P28S,Missense_P28S,Missense_P28S,Missense_P28S,Missense_P28S,Missense_P28S,Missense_P28S exm1128579 14 102661345 [A/G] NM_144574,NR_038354,NM_001242415,NM_001242414,NM_181291,NM_001242416,NM_001242417,NM_001242418,NM_181308 WDR20,WDR20,WDR20,WDR20,WDR20,WDR20,WDR20,WDR20,WDR20 EXON Missense_N107S,Silent,Missense_N107S,Silent,Missense_N107S,Silent,Missense_N107S,Missense_N119S,Silent exm1128615 14 102675639 [G/C] NM_144574,NR_038354,NM_001242415,NM_001242414,NM_181291,NM_001242416,NM_001242417,NM_001242418,NM_181308 WDR20,WDR20,WDR20,WDR20,WDR20,WDR20,WDR20,WDR20,WDR20 EXON Missense_L378V,Silent,Silent,Silent,Missense_L378V,Missense_L317V,Missense_L409V,Missense_L390V,Missense_L317V exm1803713 14 102675736 [T/C] NM_144574,NR_038354,NM_001242415,NM_001242414,NM_181291,NM_001242416,NM_001242417,NM_001242418,NM_181308 WDR20,WDR20,WDR20,WDR20,WDR20,WDR20,WDR20,WDR20,WDR20 EXON Missense_P410L,Silent,Silent,Silent,Missense_P410L,Missense_P349L,Missense_P441L,Missense_P422L,Missense_P349L exm2221948 14 102675738 [C/G] NM_144574,NR_038354,NM_001242415,NM_001242414,NM_181291,NM_001242416,NM_001242417,NM_001242418,NM_181308 WDR20,WDR20,WDR20,WDR20,WDR20,WDR20,WDR20,WDR20,WDR20 EXON Missense_A411P,Silent,Silent,Silent,Missense_A411P,Missense_A350P,Missense_A442P,Missense_A423P,Missense_A350P exm1128626 14 102675822 [T/G] NM_144574,NR_038354,NM_001242415,NM_001242414,NM_181291,NM_001242416,NM_001242417,NM_001242418,NM_181308 WDR20,WDR20,WDR20,WDR20,WDR20,WDR20,WDR20,WDR20,WDR20 EXON Missense_A439S,Silent,Silent,Silent,Missense_A439S,Missense_A378S,Missense_A470S,Missense_A451S,Missense_A378S exm1128628 14 102675841 [A/G] NM_144574,NR_038354,NM_001242415,NM_001242414,NM_181291,NM_001242416,NM_001242417,NM_001242418,NM_181308 WDR20,WDR20,WDR20,WDR20,WDR20,WDR20,WDR20,WDR20,WDR20 EXON Missense_S445N,Silent,Silent,Silent,Missense_S445N,Missense_S384N,Missense_S476N,Missense_S457N,Missense_S384N exm1128641 14 102689187 [A/C] NM_181291,NM_001242416 WDR20,WDR20 EXON Missense_S571R,Missense_S510R exm1128647 14 102695693 [T/C] NR_073540,NM_014226,NR_073541,NR_073542,NR_073543,NM_001272011 MOK,MOK,MOK,MOK,MOK,MOK EXON Silent,Missense_Q398R,Silent,Silent,Silent,Missense_Q368R exm1128661 14 102698091 [T/C] NR_073540,NM_014226,NR_073541,NR_073542,NR_073543,NM_001272011 MOK,MOK,MOK,MOK,MOK,MOK EXON Silent,Missense_E312K,Silent,Silent,Silent,Missense_E282K exm1128675 14 102698948 [T/C] NR_073540,NM_014226,NR_073541,NR_073542,NR_073543,NM_001272011 MOK,MOK,MOK,MOK,MOK,MOK EXON Silent,Missense_A264T,Silent,Silent,Silent,Missense_A234T exm1128676 14 102698972 [T/G] NR_073540,NM_014226,NR_073541,NR_073542,NR_073543,NM_001272011 MOK,MOK,MOK,MOK,MOK,MOK EXON Silent,Missense_P256T,Silent,Silent,Silent,Missense_P226T exm1128677 14 102698996 [A/G] NR_073540,NM_014226,NR_073541,NR_073542,NR_073543,NM_001272011 MOK,MOK,MOK,MOK,MOK,MOK EXON Silent,Missense_P248S,Silent,Silent,Silent,Missense_P218S exm1128678 14 102698999 [T/C] NR_073540,NM_014226,NR_073541,NR_073542,NR_073543,NM_001272011 MOK,MOK,MOK,MOK,MOK,MOK EXON Silent,Missense_I247V,Silent,Silent,Silent,Missense_I217V exm1128686 14 102700028 [T/C] NR_073540,NM_014226,NR_073541,NR_073542,NR_073543,NM_001272011 MOK,MOK,MOK,MOK,MOK,MOK EXON Silent,Missense_K230R,Silent,Silent,Silent,Missense_K200R exm1128694 14 102700065 [T/C] NR_073540,NM_014226,NR_073541,NR_073542,NR_073543,NM_001272011 MOK,MOK,MOK,MOK,MOK,MOK EXON Silent,Missense_I218V,Silent,Silent,Silent,Missense_I188V exm1128695 14 102700087 [T/G] NR_073540,NM_014226,NR_073541,NR_073542,NR_073543,NM_001272011 MOK,MOK,MOK,MOK,MOK,MOK EXON Silent,Missense_Q210H,Silent,Silent,Silent,Missense_Q180H exm1128710 14 102717231 [A/G] NM_014226,NM_001272011 MOK,MOK EXON Missense_P170S,Missense_P140S exm1128712 14 102717236 [T/C] NM_014226,NM_001272011 MOK,MOK EXON Missense_R168Q,Missense_R138Q exm1128721 14 102718093 [G/C] NM_014226,NM_001272011 MOK,MOK EXON Missense_K137N,Missense_K107N exm1128729 14 102718298 [T/C] NM_014226,NM_001272011 MOK,MOK EXON Missense_M106I,Missense_M76I exm1128730 14 102718331 [T/C] NM_014226,NM_001272011 MOK,MOK EXON Synonymous_G95G,Synonymous_G65G exm1128732 14 102729881 [A/G] NM_014226,NM_001272011 MOK,MOK Silent,Silent exm1128733 14 102729886 [A/G] NM_014226,NM_001272011 MOK,MOK EXON Nonsense_R94X,Nonsense_R64X exm1128734 14 102729910 [T/C] NM_014226,NM_001272011 MOK,MOK EXON Missense_D86N,Missense_D56N exm1128736 14 102732188 [T/C] NM_014226,NM_001272011 MOK,MOK EXON Missense_N62D,Silent exm1128743 14 102749824 [T/C] NM_014226,NM_001272011 MOK,MOK EXON Missense_R38H,Missense_R38H exm1128756 14 102792323 [A/C] NM_001267827,NM_001267828,NM_018335 ZNF839,ZNF839,ZNF839 EXON Silent,Silent,Missense_Q97P exm1128758 14 102792386 [T/C] NM_001267827,NM_001267828,NM_018335 ZNF839,ZNF839,ZNF839 EXON Missense_L2P,Missense_L2P,Missense_L118P exm1128771 14 102792631 [A/G] NM_001267827,NM_001267828,NM_018335 ZNF839,ZNF839,ZNF839 EXON Missense_D84N,Missense_D84N,Missense_D200N exm1128774 14 102792674 [T/C] NM_001267827,NM_001267828,NM_018335 ZNF839,ZNF839,ZNF839 EXON Missense_P98L,Missense_P98L,Missense_P214L exm1128779 14 102792851 [T/C] NM_001267827,NM_001267828,NM_018335 ZNF839,ZNF839,ZNF839 EXON Missense_A157V,Missense_A157V,Missense_A273V exm1128781 14 102792853 [A/G] NM_001267827,NM_001267828,NM_018335 ZNF839,ZNF839,ZNF839 EXON Missense_D158N,Missense_D158N,Missense_D274N exm1128794 14 102793090 [A/G] NM_001267827,NM_001267828,NM_018335 ZNF839,ZNF839,ZNF839 EXON Missense_G237R,Missense_G237R,Missense_G353R exm1128795 14 102793102 [T/C] NM_001267827,NM_001267828,NM_018335 ZNF839,ZNF839,ZNF839 EXON Missense_R241W,Missense_R241W,Missense_R357W exm1803757 14 102793124 [T/C] NM_001267827,NM_001267828,NM_018335 ZNF839,ZNF839,ZNF839 EXON Missense_T248M,Missense_T248M,Missense_T364M exm1128800 14 102793160 [T/C] NM_001267827,NM_001267828,NM_018335 ZNF839,ZNF839,ZNF839 EXON Missense_A260V,Missense_A260V,Missense_A376V exm1128805 14 102797992 [C/G] NM_001267827,NM_001267828,NM_018335 ZNF839,ZNF839,ZNF839 EXON Missense_P293A,Missense_P293A,Missense_P409A exm1128808 14 102798055 [A/G] NM_001267827,NM_001267828,NM_018335 ZNF839,ZNF839,ZNF839 EXON Missense_A314T,Missense_A314T,Missense_A430T exm1128809 14 102798073 [A/G] NM_001267827,NM_001267828,NM_018335 ZNF839,ZNF839,ZNF839 EXON Missense_A320T,Missense_A320T,Missense_A436T exm1128813 14 102800909 [T/C] NM_001267827,NM_001267828,NM_018335 ZNF839,ZNF839,ZNF839 EXON Missense_R363W,Missense_R363W,Missense_R479W exm1128818 14 102802095 [A/T] NM_001267827,NM_001267828,NM_018335 ZNF839,ZNF839,ZNF839 EXON Missense_M411L,Missense_M411L,Missense_M527L exm1128821 14 102805187 [A/G] NM_001267827,NM_001267828,NM_018335 ZNF839,ZNF839,ZNF839 EXON Missense_R449Q,Missense_R449Q,Missense_R565Q exm2277057 14 102805187 [T/G] NM_001267827,NM_001267828,NM_018335 ZNF839,ZNF839,ZNF839 EXON Missense_R449L,Missense_R449L,Missense_R565L exm1128822 14 102805245 [A/T] NM_001267827,NM_001267828,NM_018335 ZNF839,ZNF839,ZNF839 EXON Missense_D468E,Missense_D468E,Missense_D584E exm1128829 14 102805537 [A/G] NM_001267827,NM_001267828,NM_018335 ZNF839,ZNF839,ZNF839 EXON Missense_R519K,Missense_R519K,Missense_R635K exm1128831 14 102807671 [T/C] NM_001267827,NM_001267828,NM_018335 ZNF839,ZNF839,ZNF839 EXON Missense_P531S,Missense_P531S,Missense_P647S exm1803782 14 102807737 [A/G] NM_001267827,NM_001267828,NM_018335 ZNF839,ZNF839,ZNF839 EXON Missense_G553R,Missense_G553R,Missense_G669R exm1128837 14 102807753 [T/C] NM_001267827,NM_001267828,NM_018335 ZNF839,ZNF839,ZNF839 EXON Missense_A558V,Missense_A558V,Missense_A674V exm1128840 14 102807824 [T/C] NM_001267827,NM_001267828,NM_018335 ZNF839,ZNF839,ZNF839 EXON Missense_R582W,Missense_R582W,Missense_R698W exm1128842 14 102807854 [T/C] NM_001267827,NM_001267828,NM_018335 ZNF839,ZNF839,ZNF839 EXON Nonsense_Q592X,Nonsense_Q592X,Nonsense_Q708X exm1128849 14 102808157 [A/G] NM_001267827,NM_001267828,NM_018335 ZNF839,ZNF839,ZNF839 EXON Missense_V693M,Missense_V693M,Missense_V809M exm1128854 14 102808268 [T/C] NM_001267827,NM_001267828,NM_018335 ZNF839,ZNF839,ZNF839 EXON Missense_R730W,Missense_R730W,Missense_R846W exm1128855 14 102808273 [A/C] NM_001267827,NM_001267828,NM_018335 ZNF839,ZNF839,ZNF839 EXON Missense_F731L,Missense_F731L,Missense_F847L exm1128862 14 102808415 [A/G] NM_001267827,NM_001267828,NM_018335 ZNF839,ZNF839,ZNF839 EXON Missense_D779N,Missense_D779N,Missense_D895N exm2273524 14 102808655 [G/C] NM_001267827,NM_001267828,NM_018335 ZNF839,ZNF839,ZNF839 EXON Silent,Silent,Silent exm1128874 14 102814997 [T/G] NM_032630,NM_001177611,NM_001177612 CINP,CINP,CINP EXON Missense_T179N,Missense_T194N,Silent exm1128880 14 102815042 [T/C] NM_032630,NM_001177611,NM_001177612 CINP,CINP,CINP EXON Missense_R164H,Missense_R179H,Silent exm1803797 14 102815059 [T/C] NM_032630,NM_001177611,NM_001177612 CINP,CINP,CINP EXON Synonymous_K158K,Synonymous_K173K,Missense_R115K exm1128882 14 102815077 [C/G] NM_032630,NM_001177611,NM_001177612 CINP,CINP,CINP EXON Synonymous_L152L,Synonymous_L167L,Missense_S109C exm1128885 14 102816315 [T/C] NM_032630,NM_001177611,NM_001177612 CINP,CINP,CINP EXON Missense_H126R,Missense_H141R,Silent exm1803799 14 102822139 [A/G] NM_032630,NM_001177611,NM_001177612 CINP,CINP,CINP EXON Missense_L91P,Missense_L106P,Missense_L91P exm2221958 14 102822155 [T/C] NM_032630,NM_001177611,NM_001177612 CINP,CINP,CINP EXON Missense_E86K,Missense_E101K,Missense_E86K exm1128892 14 102825773 [C/G] NM_032630,NM_001177611,NM_001177612 CINP,CINP,CINP EXON Missense_N53K,Missense_N68K,Missense_N53K exm1128896 14 102825829 [C/G] NM_032630,NM_001177611,NM_001177612 CINP,CINP,CINP EXON Missense_L35V,Missense_L50V,Missense_L35V exm1128897 14 102825830 [G/C] NM_032630,NM_001177611,NM_001177612 CINP,CINP,CINP EXON Missense_I34M,Missense_I49M,Missense_I34M exm1128900 14 102825876 [G/C] NM_032630,NM_001177611,NM_001177612 CINP,CINP,CINP EXON Missense_S19T,Missense_S34T,Missense_S19T exm2276350 14 102843111 [A/G] NM_014844,NM_001172631 TECPR2,TECPR2 EXON Missense_Y18C,Missense_Y18C exm1128932 14 102881115 [T/C] NM_014844,NM_001172631 TECPR2,TECPR2 EXON Missense_T208I,Missense_T208I exm1128939 14 102891431 [A/C] NM_014844,NM_001172631 TECPR2,TECPR2 EXON Missense_Q252K,Missense_Q252K exm1128949 14 102894593 [A/G] NM_014844,NM_001172631 TECPR2,TECPR2 EXON Missense_V320I,Missense_V320I exm1128959 14 102898204 [A/G] NM_014844,NM_001172631 TECPR2,TECPR2 EXON Missense_A386T,Missense_A386T exm1128970 14 102898363 [T/C] NM_014844,NM_001172631 TECPR2,TECPR2 EXON Missense_P439S,Missense_P439S exm1128979 14 102900631 [T/C] NM_014844,NM_001172631 TECPR2,TECPR2 EXON Missense_P493S,Missense_P493S exm1128987 14 102900798 [T/G] NM_014844,NM_001172631 TECPR2,TECPR2 EXON Missense_N548K,Missense_N548K exm1803833 14 102900820 [A/G] NM_014844,NM_001172631 TECPR2,TECPR2 EXON Missense_M556V,Missense_M556V exm1128992 14 102900902 [A/T] NM_014844,NM_001172631 TECPR2,TECPR2 EXON Missense_N583I,Missense_N583I exm1128993 14 102900938 [T/C] NM_014844,NM_001172631 TECPR2,TECPR2 EXON Missense_T595M,Missense_T595M exm1128994 14 102900943 [T/C] NM_014844,NM_001172631 TECPR2,TECPR2 EXON Missense_L597F,Missense_L597F exm1128995 14 102900956 [T/C] NM_014844,NM_001172631 TECPR2,TECPR2 EXON Missense_P601L,Missense_P601L exm1129004 14 102901175 [T/C] NM_014844,NM_001172631 TECPR2,TECPR2 EXON Missense_P674L,Missense_P674L exm1129005 14 102901201 [A/G] NM_014844,NM_001172631 TECPR2,TECPR2 EXON Missense_I683V,Missense_I683V exm1129018 14 102901484 [A/G] NM_014844,NM_001172631 TECPR2,TECPR2 EXON Missense_S777N,Missense_S777N exm1803846 14 102904413 [A/G] NM_014844,NM_001172631 TECPR2,TECPR2 EXON Missense_V817M,Missense_V817M exm1129058 14 102912148 [C/G] NM_014844,NM_001172631 TECPR2,TECPR2 EXON Missense_R980T,Missense_R980T exm1129059 14 102912150 [A/C] NM_014844,NM_001172631 TECPR2,TECPR2 EXON Missense_Q981K,Missense_Q981K exm1129060 14 102912175 [T/C] NM_014844,NM_001172631 TECPR2,TECPR2 EXON Missense_T989M,Missense_T989M exm1129073 14 102916165 [T/C] NM_014844,NM_001172631 TECPR2,TECPR2 EXON Missense_S1092L,Missense_S1092L exm1129076 14 102916188 [A/G] NM_014844,NM_001172631 TECPR2,TECPR2 EXON Missense_A1100T,Missense_A1100T exm1129079 14 102916966 [A/C] NM_014844,NM_001172631 TECPR2,TECPR2 EXON Missense_S1129Y,Missense_S1129Y exm1803868 14 102931480 [A/G] NM_014844,NM_001172631 TECPR2,TECPR2 EXON Missense_A1215T,Missense_A1215T exm1129103 14 102963319 [A/G] NM_014844 TECPR2 EXON Missense_A1265T exm1129104 14 102963323 [T/G] NM_014844 TECPR2 EXON Missense_G1266V exm1129115 14 102963966 [A/G] NM_014844 TECPR2 EXON Missense_G1331R exm1129118 14 102964008 [A/G] NM_014844 TECPR2 EXON Missense_A1345T exm1129160 14 102974103 [T/G] NM_152326 ANKRD9 EXON Missense_R42S exm2251638 14 103007318 [A/G] exm1129188 14 103177272 [T/C] NM_015156 RCOR1 EXON Synonymous_S260S exm1129203 14 103188683 [A/G] NM_015156 RCOR1 EXON Missense_N450S exm1129208 14 103336572 [A/G] NM_001199427,NM_003300,NM_145726,NM_145725 TRAF3,TRAF3,TRAF3,TRAF3 EXON Missense_A12T,Missense_A12T,Missense_A12T,Missense_A12T exm1129229 14 103342015 [T/C] NM_001199427,NM_003300,NM_145726,NM_145725 TRAF3,TRAF3,TRAF3,TRAF3 EXON Missense_R118W,Missense_R118W,Missense_R118W,Missense_R118W exm1129231 14 103342049 [T/C] NM_001199427,NM_003300,NM_145726,NM_145725 TRAF3,TRAF3,TRAF3,TRAF3 EXON Missense_M129T,Missense_M129T,Missense_M129T,Missense_M129T exm1129232 14 103342741 [A/G] NM_001199427,NM_003300,NM_145726,NM_145725 TRAF3,TRAF3,TRAF3,TRAF3 EXON Missense_R150H,Missense_R150H,Missense_R150H,Missense_R150H exm1129251 14 103357665 [T/A] NM_001199427,NM_003300,NM_145726,NM_145725 TRAF3,TRAF3,TRAF3,TRAF3 EXON Silent,Missense_T244S,Missense_T219S,Missense_T244S exm2251639 14 103371710 [T/C] NM_001199427,NM_003300,NM_145726,NM_145725 TRAF3,TRAF3,TRAF3,TRAF3 EXON Synonymous_A349A,Synonymous_A432A,Synonymous_A407A,Synonymous_A432A exm-rs10133111 14 103377321 [A/G] NM_001199427,NM_003300,NM_145726,NM_145725 TRAF3,TRAF3,TRAF3,TRAF3 EXON Silent,Silent,Silent,Silent exm1129295 14 103390134 [A/G] NM_030943 AMN EXON Missense_A44T exm1129301 14 103390274 [A/G] NM_030943 AMN EXON Missense_M55I exm1129302 14 103390299 [T/C] NM_030943 AMN EXON Missense_H64Y exm1129309 14 103394830 [T/C] NM_030943 AMN EXON Missense_S92L exm1129323 14 103396004 [T/C] NM_030943 AMN EXON Missense_L258S exm1129329 14 103396036 [T/C] NM_030943 AMN EXON Missense_R269W exm1129331 14 103396060 [A/G] NM_030943 AMN EXON Missense_T277A exm1129346 14 103396961 [A/C] NM_030943 AMN EXON Missense_T436P exm1129361 14 103404505 [A/G] NM_006035 CDC42BPB EXON Missense_S1647L exm1129366 14 103404709 [T/C] NM_006035 CDC42BPB EXON Missense_A1623T exm1129377 14 103406051 [G/C] NM_006035 CDC42BPB EXON Missense_D1575H exm1129379 14 103406064 [T/C] NM_006035 CDC42BPB EXON Synonymous_R1570R exm1129383 14 103406281 [A/G] NM_006035 CDC42BPB EXON Missense_A1532V exm2221972 14 103410278 [T/C] NM_006035 CDC42BPB EXON Missense_R1453Q exm1129403 14 103410405 [A/G] NM_006035 CDC42BPB EXON Missense_P1411S exm1129417 14 103410810 [T/C] NM_006035 CDC42BPB EXON Missense_A1276T exm1129472 14 103420964 [A/G] NM_006035 CDC42BPB EXON Missense_S988F exm1129474 14 103420979 [A/G] NM_006035 CDC42BPB EXON Missense_A983V exm1129481 14 103430858 [T/C] NM_006035 CDC42BPB EXON Missense_A903T exm1129516 14 103435037 [T/C] NM_006035 CDC42BPB EXON Missense_R671Q exm1129517 14 103435038 [A/G] NM_006035 CDC42BPB EXON Missense_R671W exm1129530 14 103438393 [A/G] NM_006035 CDC42BPB EXON Missense_R583C exm1129537 14 103438476 [T/C] NM_006035 CDC42BPB EXON Missense_R555Q exm1129542 14 103440385 [T/C] NM_006035 CDC42BPB EXON Missense_V537M exm1129550 14 103440447 [A/G] NM_006035 CDC42BPB EXON Missense_A516V exm1804032 14 103442065 [T/G] NM_006035 CDC42BPB EXON Missense_K488T exm-rs751837 14 103484825 [T/C] NM_006035 CDC42BPB Silent exm-rs8017161 14 103563195 [A/G] exm1129602 14 103566644 [T/C] NM_001077594 EXOC3L4 EXON Missense_R30W exm1129607 14 103566774 [T/C] NM_001077594 EXOC3L4 EXON Missense_T73M exm1129609 14 103566785 [T/C] NM_001077594 EXOC3L4 EXON Missense_R77W exm1129610 14 103566786 [A/G] NM_001077594 EXOC3L4 EXON Missense_R77Q exm1129614 14 103566835 [C/G] NM_001077594 EXOC3L4 EXON Missense_D93E exm1129623 14 103568488 [A/G] NM_001077594 EXOC3L4 EXON Missense_R143Q exm1129626 14 103568595 [A/G] NM_001077594 EXOC3L4 EXON Missense_A179T exm1129629 14 103568623 [C/G] NM_001077594 EXOC3L4 EXON Missense_G188A exm1129650 14 103569064 [A/G] NM_001077594 EXOC3L4 EXON Missense_E335G exm1129656 14 103570354 [T/G] NM_001077594 EXOC3L4 EXON Missense_A376S exm1129660 14 103570629 [A/G] NM_001077594 EXOC3L4 EXON Missense_S396N exm1129673 14 103573225 [T/C] NM_001077594 EXOC3L4 EXON Missense_R524C exm1129681 14 103573857 [T/C] NM_001077594 EXOC3L4 EXON Missense_R560C exm1129683 14 103573866 [T/C] NM_001077594 EXOC3L4 EXON Missense_R563W exm1129684 14 103573867 [A/G] NM_001077594 EXOC3L4 EXON Missense_R563Q exm2221975 14 103574001 [T/C] NM_001077594 EXOC3L4 EXON Missense_R579C exm1129696 14 103574044 [A/G] NM_001077594 EXOC3L4 EXON Missense_R593Q exm1129705 14 103574772 [A/G] NM_001077594 EXOC3L4 EXON Missense_V632M exm1129710 14 103574815 [A/G] NM_001077594 EXOC3L4 EXON Missense_R646Q exm2221976 14 103576369 [T/C] NM_001077594 EXOC3L4 EXON Missense_R660W exm1129720 14 103576415 [A/G] NM_001077594 EXOC3L4 EXON Missense_Q675R exm1129727 14 103576471 [A/G] NM_001077594 EXOC3L4 EXON Missense_A694T exm1129729 14 103576486 [T/G] NM_001077594 EXOC3L4 EXON Missense_A699S exm1129733 14 103576526 [T/C] NM_001077594 EXOC3L4 EXON Missense_P712L exm1129742 14 103592967 [C/G] NM_006291 TNFAIP2 EXON Missense_S58T exm1129792 14 103598021 [A/C] NM_006291 TNFAIP2 EXON Missense_S448R exm1129796 14 103599106 [T/C] NM_006291 TNFAIP2 EXON Missense_T481M exm1129798 14 103599123 [T/G] NM_006291 TNFAIP2 EXON Missense_A487S exm2251641 14 103599731 [G/C] NM_006291 TNFAIP2 EXON Synonymous_V526V exm1129803 14 103599731 [G/C] NM_006291 TNFAIP2 EXON Synonymous_V526V exm1129808 14 103599847 [T/C] NM_006291 TNFAIP2 EXON Missense_T565I exm1129817 14 103600056 [T/C] NM_006291 TNFAIP2 EXON Missense_T580M exm1129818 14 103600074 [A/G] NM_006291 TNFAIP2 EXON Missense_R586H exm2267692 14 103600756 [A/G] NM_006291 TNFAIP2 Silent exm1129826 14 103601638 [A/G] NM_006291 TNFAIP2 EXON Missense_V636I exm1804132 14 103601651 [T/C] NM_006291 TNFAIP2 EXON Missense_A640V exm2272198 14 103654939 [T/G] NR_033938 LINC00605 EXON Silent exm1129862 14 103804756 [A/G] NM_001969,NM_183004 EIF5,EIF5 EXON Missense_T178A,Missense_T178A exm1129866 14 103804791 [A/T] NM_001969,NM_183004 EIF5,EIF5 EXON Missense_N189K,Missense_N189K exm1129901 14 103871453 [A/G] NM_002376,NM_001128918,NM_001128920,NM_001128919,NM_001128921 MARK3,MARK3,MARK3,MARK3,MARK3 EXON Missense_R31H,Missense_R31H,Missense_R31H,Missense_R31H,Missense_R31H exm1129905 14 103871488 [A/G] NM_002376,NM_001128918,NM_001128920,NM_001128919,NM_001128921 MARK3,MARK3,MARK3,MARK3,MARK3 EXON Missense_I43V,Missense_I43V,Missense_I43V,Missense_I43V,Missense_I43V exm1129941 14 103933469 [A/G] NM_002376,NM_001128918,NM_001128920,NM_001128919,NM_001128921 MARK3,MARK3,MARK3,MARK3,MARK3 EXON Missense_K351E,Missense_K351E,Missense_K351E,Missense_K351E,Missense_K272E exm1804182 14 103934484 [A/G] NM_002376,NM_001128918,NM_001128920,NM_001128919,NM_001128921 MARK3,MARK3,MARK3,MARK3,MARK3 EXON Missense_V409I,Missense_V409I,Missense_V393I,Missense_V409I,Missense_V330I exm1129950 14 103934488 [T/C] NM_002376,NM_001128918,NM_001128920,NM_001128919,NM_001128921 MARK3,MARK3,MARK3,MARK3,MARK3 EXON Missense_F410S,Missense_F410S,Missense_F394S,Missense_F410S,Missense_F331S exm1129960 14 103941392 [A/G] NM_002376,NM_001128918,NM_001128920,NM_001128919,NM_001128921 MARK3,MARK3,MARK3,MARK3,MARK3 EXON Missense_S443G,Missense_S443G,Missense_S427G,Missense_S443G,Missense_S364G exm1129963 14 103941464 [T/C] NM_002376,NM_001128918,NM_001128920,NM_001128919,NM_001128921 MARK3,MARK3,MARK3,MARK3,MARK3 EXON Missense_P467S,Missense_P467S,Missense_P451S,Missense_P467S,Missense_P388S exm1129968 14 103941521 [T/C] NM_002376,NM_001128918,NM_001128920,NM_001128919,NM_001128921 MARK3,MARK3,MARK3,MARK3,MARK3 EXON Missense_R486C,Missense_R486C,Missense_R470C,Missense_R486C,Missense_R407C exm1129971 14 103946818 [A/G] NM_002376,NM_001128918,NM_001128920,NM_001128919,NM_001128921 MARK3,MARK3,MARK3,MARK3,MARK3 EXON Missense_K526R,Missense_K526R,Missense_K510R,Missense_K526R,Missense_K447R exm1129981 14 103958317 [A/G] NM_002376,NM_001128918,NM_001128920,NM_001128919,NM_001128921 MARK3,MARK3,MARK3,MARK3,MARK3 EXON Missense_R597Q,Missense_R597Q,Missense_R581Q,Missense_R597Q,Missense_R518Q exm1129992 14 103969253 [A/C] NM_002376,NM_001128918,NM_001128920,NM_001128919,NM_001128921 MARK3,MARK3,MARK3,MARK3,MARK3 EXON Missense_K627Q,Missense_K651Q,Missense_K611Q,Missense_K642Q,Missense_K557Q exm1129998 14 103969407 [A/G] NM_002376,NM_001128918,NM_001128920,NM_001128919,NM_001128921 MARK3,MARK3,MARK3,MARK3,MARK3 EXON Missense_H678R,Missense_H702R,Missense_H662R,Missense_H693R,Missense_H608R exm1130003 14 103969503 [T/C] NM_002376,NM_001128918,NM_001128920,NM_001128919,NM_001128921 MARK3,MARK3,MARK3,MARK3,MARK3 EXON Missense_S710L,Missense_S734L,Missense_S694L,Missense_S725L,Missense_S640L exm1130009 14 103986265 [A/G] NM_001823 CKB EXON Missense_I361T exm1130024 14 103986500 [A/G] NM_001823 CKB EXON Missense_S309L exm1130087 14 104000888 [T/C] NM_152307 TRMT61A EXON Synonymous_G200G exm1130089 14 104000953 [T/C] NM_152307 TRMT61A EXON Missense_A222V exm1130091 14 104000955 [T/C] NM_152307 TRMT61A EXON Missense_R223C exm1130092 14 104000956 [A/G] NM_152307 TRMT61A EXON Missense_R223H exm1130127 14 104026798 [T/C] NM_001015049,NM_001015048,NM_004873 BAG5,BAG5,BAG5 EXON Missense_R276Q,Missense_R235Q,Missense_R235Q exm2251643 14 104027229 [T/C] NM_001015049,NM_001015048,NM_004873 BAG5,BAG5,BAG5 EXON Synonymous_R132R,Synonymous_R91R,Synonymous_R91R exm1130142 14 104027410 [G/C] NM_001015049,NM_001015048,NM_004873 BAG5,BAG5,BAG5 EXON Missense_S72T,Missense_S31T,Missense_S31T exm1130150 14 104028268 [A/G] NM_001015049,NM_001015048,NM_004873 BAG5,BAG5,BAG5 EXON Missense_L26S,Silent,Silent exm1130157 14 104028334 [T/C] NM_001015049,NM_001015048,NM_004873 BAG5,BAG5,BAG5 EXON Missense_H4R,Silent,Silent exm1130160 14 104029346 [T/C] NM_032374 APOPT1 EXON Missense_V16A exm1130176 14 104038012 [A/C] NM_032374 APOPT1 EXON Missense_P72Q exm1130183 14 104038060 [A/G] NM_032374 APOPT1 EXON Missense_N88S exm2221979 14 104120903 [T/C] NM_182923,NM_005552,NM_001130107 KLC1,KLC1,KLC1 EXON Missense_M1T,Missense_M1T,Missense_M1T exm1130255 14 104145796 [T/C] NM_182923,NM_005552,NM_001130107 KLC1,KLC1,KLC1 EXON Missense_R522C,Missense_R522C,Missense_R522C exm1130259 14 104145818 [T/C] NM_182923,NM_005552,NM_001130107 KLC1,KLC1,KLC1 EXON Missense_V529A,Missense_V529A,Missense_V529A exm2272146 14 104155317 [T/C] NM_182923,NM_001130107 KLC1,KLC1 Silent,Silent exm1130273 14 104165271 [T/C] NM_182923,NM_001130107,NM_001100119,NM_001100118,NM_005432 KLC1,KLC1,XRCC3,XRCC3,XRCC3 EXON Silent,Silent,Missense_R302H,Missense_R302H,Missense_R302H exm1130275 14 104165349 [T/C] NM_182923,NM_001130107,NM_001100119,NM_001100118,NM_005432 KLC1,KLC1,XRCC3,XRCC3,XRCC3 EXON Silent,Silent,Nonsense_W276X,Nonsense_W276X,Nonsense_W276X exm1130278 14 104165747 [T/C] NM_182923,NM_001130107,NM_001100119,NM_001100118,NM_005432 KLC1,KLC1,XRCC3,XRCC3,XRCC3 EXON Silent,Silent,Missense_R243H,Missense_R243H,Missense_R243H exm1130279 14 104165753 [A/G] NM_182923,NM_001130107,NM_001100119,NM_001100118,NM_005432 KLC1,KLC1,XRCC3,XRCC3,XRCC3 EXON Silent,Silent,Missense_T241M,Missense_T241M,Missense_T241M exm1130291 14 104166994 [T/C] NM_182923,NM_001130107,NM_001100119,NM_001100118,NM_005432 KLC1,KLC1,XRCC3,XRCC3,XRCC3 EXON Synonymous_G551G,Missense_A595V,Silent,Silent,Silent exm1804311 14 104166995 [A/G] NM_182923,NM_001130107,NM_001100119,NM_001100118,NM_005432 KLC1,KLC1,XRCC3,XRCC3,XRCC3 EXON Missense_V552I,Synonymous_A595A,Silent,Silent,Silent exm1130292 14 104167035 [T/A] NM_182923,NM_001130107,NM_001100119,NM_001100118,NM_005432 KLC1,KLC1,XRCC3,XRCC3,XRCC3 EXON Missense_Q565L,Missense_S609C,Silent,Silent,Silent exm1130303 14 104169551 [A/G] NM_001100119,NM_001100118,NM_005432 XRCC3,XRCC3,XRCC3 EXON Nonsense_R174X,Nonsense_R174X,Nonsense_R174X exm1130304 14 104169578 [T/C] NM_001100119,NM_001100118,NM_005432 XRCC3,XRCC3,XRCC3 EXON Missense_V165I,Missense_V165I,Missense_V165I exm1130307 14 104169593 [A/G] NM_001100119,NM_001100118,NM_005432 XRCC3,XRCC3,XRCC3 EXON Missense_R160W,Missense_R160W,Missense_R160W exm1130310 14 104169623 [A/G] NM_001100119,NM_001100118,NM_005432 XRCC3,XRCC3,XRCC3 EXON Missense_R150C,Missense_R150C,Missense_R150C exm1130315 14 104169659 [T/C] NM_001100119,NM_001100118,NM_005432 XRCC3,XRCC3,XRCC3 EXON Missense_V138I,Missense_V138I,Missense_V138I exm1130326 14 104174879 [T/C] NM_001100119,NM_001100118,NM_005432 XRCC3,XRCC3,XRCC3 EXON Missense_R58Q,Missense_R58Q,Missense_R58Q exm1130327 14 104174880 [A/G] NM_001100119,NM_001100118,NM_005432 XRCC3,XRCC3,XRCC3 EXON Missense_R58W,Missense_R58W,Missense_R58W exm1130329 14 104174897 [A/G] NM_001100119,NM_001100118,NM_005432 XRCC3,XRCC3,XRCC3 EXON Missense_T52M,Missense_T52M,Missense_T52M exm1130343 14 104193136 [G/C] NM_001198953,NM_024071 ZFYVE21,ZFYVE21 EXON Missense_R49T,Missense_R49T exm1130354 14 104194228 [A/G] NM_001198953,NM_024071 ZFYVE21,ZFYVE21 EXON Missense_K112R,Missense_K112R exm1130360 14 104195301 [T/C] NM_001198953,NM_024071 ZFYVE21,ZFYVE21 EXON Missense_R139C,Missense_R139C exm1130390 14 104202362 [T/C] NM_015316 PPP1R13B EXON Missense_Y1070C exm1130391 14 104202372 [A/G] NM_015316 PPP1R13B EXON Missense_R1067W exm1130395 14 104202419 [T/C] NM_015316 PPP1R13B EXON Missense_R1051H exm1130430 14 104206222 [T/C] NM_015316 PPP1R13B EXON Missense_G844E exm1130435 14 104206276 [A/G] NM_015316 PPP1R13B EXON Missense_T826M exm1130442 14 104206393 [A/G] NM_015316 PPP1R13B EXON Missense_P787L exm1130455 14 104206781 [T/C] NM_015316 PPP1R13B EXON Missense_A658T exm1130465 14 104206906 [A/G] NM_015316 PPP1R13B EXON Missense_S616L exm1804373 14 104208286 [T/G] NM_015316 PPP1R13B EXON Missense_P555T exm1130478 14 104208447 [A/G] NM_015316 PPP1R13B EXON Missense_T501I exm1130487 14 104209047 [T/C] NM_015316 PPP1R13B EXON Missense_G422S exm1130496 14 104212721 [A/C] NM_015316 PPP1R13B EXON Missense_R380I exm1130517 14 104220493 [T/C] NM_015316 PPP1R13B EXON Missense_R182Q exm1130519 14 104220530 [T/C] NM_015316 PPP1R13B EXON Missense_I170V exm1130520 14 104220547 [T/C] NM_015316 PPP1R13B EXON Missense_R164H exm1130553 14 104381411 [T/C] NM_001127393,NM_004894 C14orf2,C14orf2 EXON Missense_R56Q,Missense_R39Q exm1130555 14 104381502 [T/C] NM_001127393,NM_004894 C14orf2,C14orf2 EXON Missense_I26V,Missense_I9V exm1130559 14 104387293 [G/C] NM_001127393,NM_004894 C14orf2,C14orf2 EXON Missense_S12C,Silent exm2251645 14 104394850 [T/C] NM_153046 TDRD9 EXON Synonymous_L2L exm1130578 14 104433097 [A/G] NM_153046 TDRD9 EXON Missense_T232A exm1130584 14 104441756 [A/G] NM_153046 TDRD9 EXON Missense_K293E exm1130586 14 104441786 [G/C] NM_153046 TDRD9 EXON Missense_V303L exm1130607 14 104470602 [A/G] NM_153046 TDRD9 EXON Missense_Y504C exm1130616 14 104471719 [T/C] NM_153046 TDRD9 EXON Missense_R564C exm1130618 14 104472756 [A/G] NM_153046 TDRD9 EXON Missense_E582K exm1130633 14 104473531 [A/G] NM_153046 TDRD9 EXON Missense_R681Q exm1130641 14 104481128 [T/C] NM_153046 TDRD9 EXON Nonsense_R725X exm1130643 14 104481153 [T/C] NM_153046 TDRD9 EXON Missense_I733T exm1130648 14 104482367 [T/C] NM_153046 TDRD9 EXON Missense_P758L exm1130660 14 104488633 [G/C] NM_153046 TDRD9 EXON Missense_Q858E exm1130664 14 104490992 [A/T] NM_153046 TDRD9 EXON Missense_L898H exm1130675 14 104493079 [T/C] NM_153046 TDRD9 EXON Missense_W1029R exm1130684 14 104493179 [T/C] NM_153046 TDRD9 EXON Missense_V1062A exm1130695 14 104500301 [A/G] NM_153046 TDRD9 EXON Missense_V1172I exm2221994 14 104501303 [T/C] NM_153046 TDRD9 EXON Missense_T1209M exm1130699 14 104501384 [T/C] NM_153046 TDRD9 EXON Missense_I1236T exm1130702 14 104506642 [T/G] NM_153046 TDRD9 EXON Missense_V1276F exm1130708 14 104508488 [T/C] NM_153046 TDRD9 EXON Missense_A1313V exm1130711 14 104508508 [T/C] NM_153046 TDRD9 EXON Missense_R1320C exm-rs11622475 14 104509076 [T/C] NM_153046 TDRD9 Silent exm1130717 14 104518322 [A/C] NM_153046 TDRD9 EXON Missense_D1351A exm1130720 14 104518352 [A/G] NM_153046 TDRD9 EXON Missense_R1361H exm1130726 14 104552159 [A/G] NM_001080464 ASPG EXON Missense_G18S exm1130734 14 104559048 [A/G] NM_001080464 ASPG EXON Missense_R54H exm1130741 14 104559833 [A/C] NM_001080464 ASPG EXON Missense_A66D exm1130746 14 104559878 [T/C] NM_001080464 ASPG EXON Missense_P81L exm1130750 14 104559919 [T/C] NM_001080464 ASPG EXON Missense_C95R exm1804465 14 104559926 [T/C] NM_001080464 ASPG EXON Missense_A97V exm1130756 14 104561886 [T/C] NM_001080464 ASPG EXON Missense_H108Y exm1130760 14 104561935 [T/C] NM_001080464 ASPG EXON Missense_S124L exm1130776 14 104565235 [A/G] NM_001080464 ASPG EXON Missense_T187A exm2251646 14 104570754 [T/C] NM_001080464 ASPG EXON Synonymous_R289R exm1130801 14 104570813 [A/C] NM_001080464 ASPG EXON Missense_A309E exm1130811 14 104571054 [C/G] NM_001080464 ASPG EXON Missense_S344R exm1130817 14 104571756 [T/C] NM_001080464 ASPG EXON Missense_V381A exm1130821 14 104573164 [T/C] NM_001080464 ASPG EXON Missense_V401A exm1130830 14 104573577 [A/G] NM_001080464 ASPG EXON Missense_R443Q exm1130842 14 104575640 [T/C] NM_001080464 ASPG EXON Missense_T503M exm1130873 14 104618593 [T/C] NM_015656 KIF26A EXON Missense_A177V exm1130882 14 104618742 [G/C] NM_015656 KIF26A EXON Missense_L227V exm1130886 14 104624095 [A/G] NM_015656 KIF26A EXON Missense_E247K exm1130897 14 104624155 [A/G] NM_015656 KIF26A EXON Missense_G267S exm1804501 14 104624228 [T/G] NM_015656 KIF26A EXON Missense_G291V exm1130905 14 104624263 [T/G] NM_015656 KIF26A EXON Missense_A303S exm1130922 14 104638130 [A/G] NM_015656 KIF26A EXON Missense_K395R exm1130924 14 104638180 [T/C] NM_015656 KIF26A EXON Missense_P412S exm1130926 14 104638191 [A/C] NM_015656 KIF26A EXON Missense_S415R exm1130936 14 104639422 [T/C] NM_015656 KIF26A EXON Missense_T510M exm1130939 14 104639439 [A/G] NM_015656 KIF26A EXON Missense_V516I exm1804518 14 104639442 [T/C] NM_015656 KIF26A EXON Missense_R517W exm1130941 14 104639499 [A/G] NM_015656 KIF26A EXON Missense_E536K exm1130963 14 104640120 [A/G] NM_015656 KIF26A EXON Missense_A649T exm1130974 14 104640582 [A/G] NM_015656 KIF26A EXON Missense_A710T exm1130982 14 104640630 [T/C] NM_015656 KIF26A EXON Missense_R726C exm1130986 14 104641322 [A/G] NM_015656 KIF26A EXON Missense_A733T exm1804540 14 104641532 [T/C] NM_015656 KIF26A EXON Missense_R803W exm1131002 14 104641592 [T/C] NM_015656 KIF26A EXON Missense_R823C exm1131003 14 104641605 [A/C] NM_015656 KIF26A EXON Missense_S827Y exm1131010 14 104641730 [C/G] NM_015656 KIF26A EXON Missense_A869P exm1131016 14 104641860 [G/C] NM_015656 KIF26A EXON Missense_P912R exm1131023 14 104641935 [A/G] NM_015656 KIF26A EXON Missense_E937G exm1131025 14 104641986 [G/C] NM_015656 KIF26A EXON Missense_P954R exm1131052 14 104642436 [A/G] NM_015656 KIF26A EXON Missense_S1104N exm1131053 14 104642444 [A/G] NM_015656 KIF26A EXON Missense_G1107S exm2222000 14 104642460 [T/C] NM_015656 KIF26A EXON Missense_S1112F exm1131057 14 104642489 [T/G] NM_015656 KIF26A EXON Missense_A1122S exm1131059 14 104642499 [T/G] NM_015656 KIF26A EXON Missense_R1125L exm1131069 14 104642759 [T/C] NM_015656 KIF26A EXON Missense_R1212W exm1131081 14 104643003 [T/C] NM_015656 KIF26A EXON Missense_A1293V exm1131099 14 104643389 [T/C] NM_015656 KIF26A EXON Missense_R1422W exm1131110 14 104643473 [A/G] NM_015656 KIF26A EXON Missense_K1450E exm1131165 14 104645042 [A/G] NM_015656 KIF26A EXON Missense_V1756M exm1131167 14 104645048 [T/C] NM_015656 KIF26A EXON Missense_R1758C exm1131191 14 104646027 [A/G] NM_015656 KIF26A EXON Missense_C1850Y exm1131203 14 104646102 [T/C] NM_015656 KIF26A EXON Missense_P1875L exm2272147 14 104704722 [T/C] exm2260288 14 104849219 [T/C] exm-rs11160805 14 104866687 [T/C] exm1131230 14 105052819 [T/C] NM_001008404 C14orf180 EXON Missense_R18C exm1131231 14 105052820 [A/G] NM_001008404 C14orf180 EXON Missense_R18H exm1131233 14 105052846 [A/G] NM_001008404 C14orf180 EXON Missense_A27T exm1804581 14 105054085 [A/G] NM_001008404 C14orf180 Silent exm1131240 14 105054176 [T/C] NM_001008404 C14orf180 EXON Missense_R68C exm1131241 14 105054188 [T/C] NM_001008404 C14orf180 EXON Nonsense_R72X exm1131242 14 105054189 [A/G] NM_001008404 C14orf180 EXON Missense_R72Q exm2251649 14 105054196 [A/C] NM_001008404 C14orf180 EXON Synonymous_P74P exm1131244 14 105054201 [T/C] NM_001008404 C14orf180 EXON Missense_A76V exm1131247 14 105054213 [A/G] NM_001008404 C14orf180 EXON Missense_H80R exm1131266 14 105055043 [T/C] NM_001008404 C14orf180 EXON Missense_R136W exm1131275 14 105061531 [T/C] NM_207379 TMEM179 EXON Missense_A165T exm1131280 14 105063342 [T/C] NM_207379 TMEM179 EXON Missense_G143D exm2267693 14 105154105 [A/G] exm1131301 14 105167739 [A/G] NM_032714,NM_022489,NM_001031714 INF2,INF2,INF2 EXON Missense_A13T,Missense_A13T,Missense_A13T exm2251650 14 105167807 [T/C] NM_032714,NM_022489,NM_001031714 INF2,INF2,INF2 EXON Synonymous_P35P,Synonymous_P35P,Synonymous_P35P exm1131311 14 105169459 [A/G] NM_032714,NM_022489,NM_001031714 INF2,INF2,INF2 EXON Missense_V137M,Missense_V137M,Missense_V137M exm1804616 14 105173653 [T/C] NM_022489,NM_001031714 INF2,INF2 EXON Missense_P350L,Missense_P350L exm1131349 14 105173682 [A/G] NM_022489,NM_001031714 INF2,INF2 EXON Missense_V360I,Missense_V360I exm1131352 14 105173748 [A/G] NM_022489,NM_001031714 INF2,INF2 EXON Missense_S382G,Missense_S382G exm1131360 14 105174055 [A/G] NM_022489,NM_001031714 INF2,INF2 EXON Missense_C484Y,Missense_C484Y exm1131379 14 105174336 [T/C] NM_022489,NM_001031714 INF2,INF2 EXON Missense_R578C,Missense_R578C exm1131398 14 105175958 [T/C] NM_022489,NM_001031714 INF2,INF2 EXON Missense_I685T,Missense_I685T exm1131407 14 105177417 [G/C] NM_022489,NM_001031714 INF2,INF2 EXON Missense_G771A,Missense_G771A exm1131412 14 105177515 [A/G] NM_022489,NM_001031714 INF2,INF2 EXON Missense_V804M,Missense_V804M exm1131415 14 105177970 [T/C] NM_022489,NM_001031714 INF2,INF2 EXON Missense_A808V,Missense_A808V exm1131419 14 105178005 [T/C] NM_022489,NM_001031714 INF2,INF2 EXON Missense_R820W,Missense_R820W exm1131420 14 105178789 [T/C] NM_022489,NM_001031714 INF2,INF2 EXON Missense_R837C,Missense_R837C exm1131423 14 105178852 [A/G] NM_022489,NM_001031714 INF2,INF2 EXON Missense_V858M,Missense_V858M exm1131425 14 105179184 [A/G] NM_022489,NM_001031714 INF2,INF2 EXON Missense_R877Q,Missense_R877Q exm2251651 14 105179194 [T/C] NM_022489,NM_001031714 INF2,INF2 EXON Synonymous_D880D,Synonymous_D880D exm1131426 14 105179194 [T/C] NM_022489,NM_001031714 INF2,INF2 EXON Synonymous_D880D,Synonymous_D880D exm1131439 14 105179902 [A/G] NM_022489,NM_001031714 INF2,INF2 EXON Missense_S1000N,Missense_S1000N exm2222016 14 105179935 [G/C] NM_022489,NM_001031714 INF2,INF2 EXON Missense_T1011R,Missense_T1011R exm1131455 14 105180633 [A/G] NM_022489,NM_001031714 INF2,INF2 EXON Missense_R1045Q,Missense_R1045Q exm1131461 14 105180708 [A/G] NM_022489,NM_001031714 INF2,INF2 EXON Missense_R1070Q,Missense_R1070Q exm1131462 14 105180720 [A/G] NM_022489,NM_001031714 INF2,INF2 EXON Missense_R1074K,Missense_R1074K exm1131463 14 105180743 [T/G] NM_022489,NM_001031714 INF2,INF2 EXON Missense_A1082S,Missense_A1082S exm1131468 14 105180903 [T/C] NM_022489,NM_001031714 INF2,INF2 EXON Missense_T1135M,Missense_T1135M exm1131474 14 105180963 [T/C] NM_022489,NM_001031714 INF2,INF2 EXON Missense_A1155V,Missense_A1155V exm1131476 14 105180977 [A/G] NM_022489,NM_001031714 INF2,INF2 EXON Missense_G1160S,Missense_G1160S exm1131485 14 105181137 [A/G] NM_022489,NM_001031714 INF2,INF2 EXON Missense_R1213Q,Missense_R1213Q exm1131493 14 105185140 [T/C] NM_022489,NM_001031714 INF2,INF2 EXON Silent,Missense_P1235S exm1131494 14 105185146 [T/C] NM_022489,NM_001031714 INF2,INF2 EXON Silent,Missense_P1237S exm1131507 14 105196232 [C/G] NM_152328,NM_199165 ADSSL1,ADSSL1 EXON Silent,Missense_M1I exm1131519 14 105196402 [G/C] NM_152328,NM_199165 ADSSL1,ADSSL1 EXON Silent,Missense_P58R exm1131527 14 105201412 [A/G] NM_152328,NM_199165 ADSSL1,ADSSL1 EXON Missense_H83R,Missense_H126R exm1131540 14 105205678 [G/C] NM_152328,NM_199165 ADSSL1,ADSSL1 EXON Missense_W124C,Missense_W167C exm1131545 14 105206110 [A/G] NM_152328,NM_199165 ADSSL1,ADSSL1 EXON Missense_D145N,Missense_D188N exm1804693 14 105207002 [T/C] NM_152328,NM_199165 ADSSL1,ADSSL1 EXON Missense_R181C,Missense_R224C exm1131558 14 105207039 [T/C] NM_152328,NM_199165 ADSSL1,ADSSL1 EXON Missense_S193F,Missense_S236F exm1131571 14 105207523 [C/G] NM_152328,NM_199165 ADSSL1,ADSSL1 EXON Missense_P246A,Missense_P289A exm1131572 14 105207527 [G/C] NM_152328,NM_199165 ADSSL1,ADSSL1 EXON Missense_P247R,Missense_P290R exm1131577 14 105207580 [A/G] NM_152328,NM_199165 ADSSL1,ADSSL1 EXON Missense_G265R,Missense_G308R exm1131583 14 105208265 [A/G] NM_152328,NM_199165 ADSSL1,ADSSL1 EXON Missense_G292S,Missense_G335S exm1131594 14 105209441 [C/G] NM_152328,NM_199165 ADSSL1,ADSSL1 EXON Missense_W329S,Missense_W372S exm1131596 14 105209528 [T/C] NM_152328,NM_199165 ADSSL1,ADSSL1 EXON Missense_A358V,Missense_A401V exm1131605 14 105212632 [T/G] NM_152328,NM_199165 ADSSL1,ADSSL1 EXON Missense_A411S,Missense_A454S exm1131609 14 105213321 [T/C] NM_152328,NM_199165 ADSSL1,ADSSL1 EXON Missense_S452L,Missense_S495L exm1131624 14 105221996 [A/G] NM_006427,NM_021709 SIVA1,SIVA1 EXON Missense_A50T,Silent exm1131640 14 105222965 [T/C] NM_006427,NM_021709 SIVA1,SIVA1 EXON Missense_A113V,Missense_A48V exm1131641 14 105222988 [A/G] NM_006427,NM_021709 SIVA1,SIVA1 EXON Missense_V121M,Missense_V56M exm1131645 14 105225776 [A/T] NM_006427,NM_021709 SIVA1,SIVA1 EXON Missense_M161K,Missense_M96K exm2273525 14 105225979 [G/C] NM_006427,NM_021709 SIVA1,SIVA1 EXON Silent,Silent exm1131653 14 105236685 [A/G] NM_001014431,NM_001014432,NM_005163 AKT1,AKT1,AKT1 EXON Missense_T479M,Missense_T479M,Missense_T479M exm1131656 14 105236727 [T/C] NM_001014431,NM_001014432,NM_005163 AKT1,AKT1,AKT1 EXON Missense_R465H,Missense_R465H,Missense_R465H exm1804739 14 105236732 [A/G] NM_001014431,NM_001014432,NM_005163 AKT1,AKT1,AKT1 EXON Synonymous_S463S,Synonymous_S463S,Synonymous_S463S exm1131720 14 105246462 [T/G] NM_001014431,NM_001014432,NM_005163 AKT1,AKT1,AKT1 EXON Missense_D46E,Missense_D46E,Missense_D46E exm1131736 14 105267925 [A/G] NM_001137601 ZBTB42 EXON Missense_A131T exm1131737 14 105267934 [A/G] NM_001137601 ZBTB42 EXON Missense_A134T exm2251653 14 105268740 [T/C] NM_001137601 ZBTB42 EXON Synonymous_S402S exm-rs4983559 14 105277209 [A/G] exm1131774 14 105346670 [T/C] NM_015005,NM_001112726 CEP170B,CEP170B EXON Missense_A57V,Missense_A127V exm1131797 14 105349452 [T/C] NM_015005,NM_001112726 CEP170B,CEP170B EXON Missense_R150W,Missense_R220W exm1131801 14 105349501 [T/C] NM_015005,NM_001112726 CEP170B,CEP170B EXON Missense_P166L,Missense_P236L exm1131802 14 105349504 [T/C] NM_015005,NM_001112726 CEP170B,CEP170B EXON Missense_S167L,Missense_S237L exm1131803 14 105349508 [T/G] NM_015005,NM_001112726 CEP170B,CEP170B EXON Missense_Q168H,Missense_Q238H exm1131810 14 105349570 [T/C] NM_015005,NM_001112726 CEP170B,CEP170B EXON Missense_A189V,Missense_A259V exm1131816 14 105349687 [T/C] NM_015005,NM_001112726 CEP170B,CEP170B EXON Missense_P228L,Missense_P298L exm1131817 14 105349699 [T/C] NM_015005,NM_001112726 CEP170B,CEP170B EXON Missense_A232V,Missense_A302V exm1131830 14 105350222 [T/C] NM_015005,NM_001112726 CEP170B,CEP170B EXON Missense_A299V,Missense_A369V exm1131869 14 105350815 [A/G] NM_015005,NM_001112726 CEP170B,CEP170B EXON Missense_A497T,Missense_A567T exm1131872 14 105350852 [T/C] NM_015005,NM_001112726 CEP170B,CEP170B EXON Missense_T509M,Missense_T579M exm1131894 14 105352788 [A/G] NM_015005,NM_001112726 CEP170B,CEP170B EXON Missense_G668S,Missense_G738S exm1131901 14 105352944 [A/G] NM_015005,NM_001112726 CEP170B,CEP170B EXON Missense_G720R,Missense_G790R exm1131903 14 105352992 [A/G] NM_015005,NM_001112726 CEP170B,CEP170B EXON Missense_A736T,Missense_A806T exm1131907 14 105353011 [T/C] NM_015005,NM_001112726 CEP170B,CEP170B EXON Missense_P742L,Missense_P812L exm1804826 14 105353052 [A/G] NM_015005,NM_001112726 CEP170B,CEP170B EXON Missense_A756T,Missense_A826T exm1131911 14 105353074 [A/G] NM_015005,NM_001112726 CEP170B,CEP170B EXON Missense_R763Q,Missense_R833Q exm1804827 14 105353082 [A/G] NM_015005,NM_001112726 CEP170B,CEP170B EXON Missense_V766I,Missense_V836I exm1131917 14 105353136 [G/C] NM_015005,NM_001112726 CEP170B,CEP170B EXON Missense_P784A,Missense_P854A exm1131920 14 105353148 [A/G] NM_015005,NM_001112726 CEP170B,CEP170B EXON Missense_G788S,Missense_G858S exm1804831 14 105353305 [A/C] NM_015005,NM_001112726 CEP170B,CEP170B EXON Missense_T840N,Missense_T910N exm1131944 14 105353421 [A/G] NM_015005,NM_001112726 CEP170B,CEP170B EXON Missense_A879T,Missense_A949T exm1804832 14 105353478 [A/C] NM_015005,NM_001112726 CEP170B,CEP170B EXON Missense_K898Q,Missense_K968Q exm1131948 14 105353502 [A/C] NM_015005,NM_001112726 CEP170B,CEP170B EXON Missense_P906T,Missense_P976T exm1131959 14 105353767 [A/C] NM_015005,NM_001112726 CEP170B,CEP170B EXON Missense_N994T,Missense_N1064T exm1131961 14 105353806 [A/G] NM_015005,NM_001112726 CEP170B,CEP170B EXON Missense_G1007D,Missense_G1077D exm1131962 14 105353811 [T/C] NM_015005,NM_001112726 CEP170B,CEP170B EXON Missense_R1009C,Missense_R1079C exm1131965 14 105353926 [T/C] NM_015005,NM_001112726 CEP170B,CEP170B EXON Missense_T1047I,Missense_T1117I exm1131968 14 105354033 [A/G] NM_015005,NM_001112726 CEP170B,CEP170B EXON Missense_V1083M,Missense_V1153M exm1131974 14 105354189 [C/G] NM_015005,NM_001112726 CEP170B,CEP170B EXON Missense_A1135P,Missense_A1205P exm1131986 14 105356031 [A/G] NM_015005,NM_001112726 CEP170B,CEP170B EXON Missense_D1237N,Missense_D1272N exm1131987 14 105356033 [T/G] NM_015005,NM_001112726 CEP170B,CEP170B EXON Missense_D1237E,Missense_D1272E exm1131989 14 105356074 [T/C] NM_015005,NM_001112726 CEP170B,CEP170B EXON Missense_A1251V,Missense_A1286V exm1131990 14 105356083 [T/C] NM_015005,NM_001112726 CEP170B,CEP170B EXON Missense_A1254V,Missense_A1289V exm2274723 14 105359441 [T/C] NM_015005,NM_001112726 CEP170B,CEP170B EXON Missense_T1301I,Missense_T1336I exm1132003 14 105359911 [A/G] NM_015005,NM_001112726 CEP170B,CEP170B EXON Missense_G1329S,Missense_G1364S exm1132014 14 105360684 [A/G] NM_015005,NM_001112726 CEP170B,CEP170B EXON Missense_N1410S,Missense_N1445S exm1132024 14 105361054 [A/G] NM_015005,NM_001112726 CEP170B,CEP170B EXON Missense_N1440S,Missense_N1475S exm1804856 14 105361204 [A/C] NM_015005,NM_001112726 CEP170B,CEP170B EXON Missense_P1490H,Missense_P1525H exm1132038 14 105393523 [T/C] NM_138790 PLD4 EXON Missense_C16R exm1804861 14 105394082 [T/C] NM_138790 PLD4 EXON Missense_P55S exm1132043 14 105394086 [A/G] NM_138790 PLD4 EXON Missense_R56H exm1132053 14 105395204 [A/G] NM_138790 PLD4 EXON Missense_V135M exm1132055 14 105395221 [A/G] NM_138790 PLD4 EXON Nonsense_W140X exm1132060 14 105395256 [C/G] NM_138790 PLD4 EXON Missense_S152W exm2222029 14 105395742 [A/C] NM_138790 PLD4 EXON Missense_D189E exm1804868 14 105396326 [T/C] NM_138790 PLD4 EXON Nonsense_R201X exm1132081 14 105397117 [A/C] NM_138790 PLD4 EXON Missense_H252Q exm1132085 14 105397239 [A/G] NM_138790 PLD4 EXON Missense_H293R exm1132090 14 105398143 [T/C] NM_138790 PLD4 EXON Missense_A326V exm1132095 14 105398220 [A/C] NM_138790 PLD4 EXON Missense_P352T exm1132112 14 105399263 [T/G] NM_138790 PLD4 EXON Nonsense_G495X exm1132121 14 105404534 [T/C] NM_138420 AHNAK2 EXON Missense_G5752R exm1132126 14 105404593 [A/G] NM_138420 AHNAK2 EXON Missense_T5732M exm1132127 14 105404606 [C/G] NM_138420 AHNAK2 EXON Missense_E5728Q exm1804888 14 105404884 [T/C] NM_138420 AHNAK2 EXON Missense_D5635G exm1132143 14 105404944 [A/G] NM_138420 AHNAK2 EXON Missense_P5615L exm1132155 14 105405170 [A/G] NM_138420 AHNAK2 EXON Nonsense_Q5540X exm1132158 14 105405199 [A/G] NM_138420 AHNAK2 EXON Missense_T5530M exm1132163 14 105405283 [A/C] NM_138420 AHNAK2 EXON Missense_R5502L exm1132165 14 105405287 [T/C] NM_138420 AHNAK2 EXON Missense_V5501M exm1132172 14 105405434 [T/A] NM_138420 AHNAK2 EXON Missense_N5452Y exm1132176 14 105405599 [G/C] NM_138420 AHNAK2 EXON Missense_P5397A exm2251655 14 105405777 [A/G] NM_138420 AHNAK2 EXON Synonymous_L5337L exm1132187 14 105406024 [C/G] NM_138420 AHNAK2 EXON Missense_A5255G exm1132188 14 105406034 [T/C] NM_138420 AHNAK2 EXON Missense_E5252K exm1132192 14 105406114 [G/C] NM_138420 AHNAK2 EXON Missense_G5225A exm1132194 14 105406201 [T/C] NM_138420 AHNAK2 EXON Missense_R5196H exm1132195 14 105406235 [A/C] NM_138420 AHNAK2 EXON Missense_S5185A exm1132196 14 105406238 [A/C] NM_138420 AHNAK2 EXON Missense_Y5184D exm1804895 14 105406300 [T/C] NM_138420 AHNAK2 EXON Missense_C5163Y exm1132199 14 105406372 [T/C] NM_138420 AHNAK2 EXON Missense_G5139E exm1132202 14 105406473 [T/G] NM_138420 AHNAK2 EXON Missense_R5105S exm1132203 14 105406502 [T/C] NM_138420 AHNAK2 EXON Missense_S5096G exm1132204 14 105406522 [T/C] NM_138420 AHNAK2 EXON Missense_R5089Q exm1132205 14 105406574 [T/C] NM_138420 AHNAK2 EXON Missense_G5072R exm1132213 14 105406676 [T/C] NM_138420 AHNAK2 EXON Missense_V5038I exm1132227 14 105407211 [G/C] NM_138420 AHNAK2 EXON Missense_Q4859H exm2222032 14 105407216 [T/C] NM_138420 AHNAK2 EXON Missense_G4858S exm1132230 14 105407253 [T/G] NM_138420 AHNAK2 EXON Missense_H4845Q exm1132233 14 105407327 [A/G] NM_138420 AHNAK2 EXON Missense_P4821S exm1132235 14 105407374 [A/G] NM_138420 AHNAK2 EXON Missense_A4805V exm1804902 14 105407444 [A/C] NM_138420 AHNAK2 EXON Missense_S4782A exm1132240 14 105407525 [A/G] NM_138420 AHNAK2 EXON Missense_P4755S exm1132243 14 105407539 [A/G] NM_138420 AHNAK2 EXON Missense_S4750L exm1132247 14 105407601 [T/C] NM_138420 AHNAK2 EXON Missense_I4729M exm1132250 14 105407666 [T/C] NM_138420 AHNAK2 EXON Missense_K4708E exm1132251 14 105407676 [A/C] NM_138420 AHNAK2 EXON Missense_F4704L exm1132259 14 105407770 [A/T] NM_138420 AHNAK2 EXON Missense_H4673L exm1132260 14 105407789 [T/C] NM_138420 AHNAK2 EXON Missense_I4667V exm1132261 14 105407798 [T/C] NM_138420 AHNAK2 EXON Missense_T4664A exm1132266 14 105407848 [A/C] NM_138420 AHNAK2 EXON Missense_M4647R exm1132270 14 105407906 [A/G] NM_138420 AHNAK2 EXON Missense_F4628L exm1132280 14 105408008 [T/C] NM_138420 AHNAK2 EXON Missense_V4594M exm1132289 14 105408176 [T/C] NM_138420 AHNAK2 EXON Missense_E4538K exm1132306 14 105408334 [A/G] NM_138420 AHNAK2 EXON Missense_S4485L exm1804912 14 105408335 [A/G] NM_138420 AHNAK2 EXON Missense_S4485P exm1132307 14 105408341 [T/C] NM_138420 AHNAK2 EXON Missense_E4483K exm1132328 14 105408714 [G/C] NM_138420 AHNAK2 EXON Missense_Q4358H exm1132329 14 105408722 [T/C] NM_138420 AHNAK2 EXON Missense_E4356K exm1132417 14 105409327 [A/G] NM_138420 AHNAK2 EXON Missense_A4154V exm1132419 14 105409343 [T/C] NM_138420 AHNAK2 EXON Missense_G4149S exm1132490 14 105410183 [T/C] NM_138420 AHNAK2 EXON Missense_M3869V exm1132492 14 105410212 [A/T] NM_138420 AHNAK2 EXON Missense_D3859V exm1132496 14 105410279 [T/C] NM_138420 AHNAK2 EXON Missense_V3837M exm1132517 14 105410471 [T/C] NM_138420 AHNAK2 EXON Missense_V3773I exm1132553 14 105410803 [T/C] NM_138420 AHNAK2 EXON Missense_D3662G exm1132683 14 105411814 [T/C] NM_138420 AHNAK2 EXON Missense_K3325R exm2222054 14 105411863 [T/C] NM_138420 AHNAK2 EXON Missense_K3309E exm1132733 14 105412270 [A/G] NM_138420 AHNAK2 EXON Missense_V3173A exm1132855 14 105413249 [T/C] NM_138420 AHNAK2 EXON Missense_G2847R exm1132861 14 105413269 [T/G] NM_138420 AHNAK2 EXON Missense_E2840A exm1132864 14 105413287 [A/G] NM_138420 AHNAK2 EXON Missense_A2834V exm1132920 14 105413723 [T/C] NM_138420 AHNAK2 EXON Missense_G2689R exm1132943 14 105413869 [C/G] NM_138420 AHNAK2 EXON Missense_G2640A exm1133016 14 105414400 [A/G] NM_138420 AHNAK2 EXON Missense_A2463V exm1133038 14 105414528 [A/C] NM_138420 AHNAK2 EXON Missense_Q2420H exm1133074 14 105414790 [A/G] NM_138420 AHNAK2 EXON Missense_L2333P exm1133178 14 105415333 [T/C] NM_138420 AHNAK2 EXON Missense_K2152R exm1133207 14 105415493 [A/C] NM_138420 AHNAK2 EXON Missense_D2099Y exm1133291 14 105415882 [T/C] NM_138420 AHNAK2 EXON Missense_R1969Q exm1133461 14 105416698 [A/G] NM_138420 AHNAK2 EXON Missense_M1697T exm1133463 14 105416705 [A/G] NM_138420 AHNAK2 EXON Missense_P1695S exm1133464 14 105416708 [A/G] NM_138420 AHNAK2 EXON Missense_L1694F exm1133480 14 105416752 [T/G] NM_138420 AHNAK2 EXON Missense_A1679D exm1133662 14 105417646 [A/G] NM_138420 AHNAK2 EXON Missense_P1381L exm2251668 14 105418632 [A/G] NM_138420 AHNAK2 EXON Synonymous_S1052S exm1133847 14 105418655 [G/C] NM_138420 AHNAK2 EXON Missense_D1045H exm2251669 14 105418719 [T/C] NM_138420 AHNAK2 EXON Synonymous_V1023V exm1133963 14 105419740 [A/G] NM_138420 AHNAK2 EXON Missense_P683L exm1133966 14 105419755 [C/G] NM_138420 AHNAK2 EXON Missense_P678R exm1133970 14 105419807 [T/G] NM_138420 AHNAK2 EXON Missense_Q661K exm1133977 14 105420042 [T/C] NM_138420 AHNAK2 EXON Missense_M582I exm1133981 14 105420134 [T/C] NM_138420 AHNAK2 EXON Missense_D552N exm1133984 14 105420182 [T/C] NM_138420 AHNAK2 EXON Missense_G536R exm1133986 14 105420215 [T/C] NM_138420 AHNAK2 EXON Missense_T525A exm1133990 14 105420248 [T/C] NM_138420 AHNAK2 EXON Missense_G514R exm1805195 14 105420440 [T/C] NM_138420 AHNAK2 EXON Missense_G450S exm1134001 14 105420477 [A/C] NM_138420 AHNAK2 EXON Missense_K437N exm1134003 14 105420534 [A/C] NM_138420 AHNAK2 EXON Missense_R418S exm2222091 14 105420977 [A/G] NM_138420 AHNAK2 EXON Missense_R271W exm1134022 14 105421317 [T/C] NM_138420 AHNAK2 EXON Missense_G210S exm1134026 14 105421844 [T/C] NM_138420 AHNAK2 EXON Missense_A148T exm1134030 14 105421900 [G/C] NM_138420 AHNAK2 EXON Missense_T129R exm1134032 14 105422932 [T/C] NM_138420 AHNAK2 EXON Missense_R103H exm1134035 14 105422990 [A/G] NM_138420 AHNAK2 EXON Missense_R84W exm1134044 14 105423809 [A/G] NM_138420 AHNAK2 EXON Missense_R51W exm1134050 14 105452770 [T/G] NM_174891 C14orf79 EXON Missense_M1R exm2276359 14 105452886 [C/G] NM_174891 C14orf79 EXON Missense_R40G exm1134054 14 105452941 [A/G] NM_174891 C14orf79 EXON Missense_R58H exm1134055 14 105452956 [C/G] NM_174891 C14orf79 EXON Missense_T63S exm1134057 14 105452991 [A/C] NM_174891 C14orf79 EXON Missense_S75R exm1134079 14 105457923 [A/T] NM_174891 C14orf79 EXON Missense_F222Y exm1134088 14 105459309 [A/G] NM_174891 C14orf79 EXON Missense_I242V exm1134092 14 105460933 [A/G] NM_174891 C14orf79 Silent exm1134093 14 105460942 [A/G] NM_174891 C14orf79 EXON Missense_G275E exm1134097 14 105461004 [T/C] NM_174891 C14orf79 EXON Missense_C296R exm1134100 14 105461050 [T/C] NM_174891 C14orf79 EXON Missense_T311I exm1134104 14 105461085 [A/G] NM_174891 C14orf79 EXON Missense_D323N exm1134114 14 105477582 [G/C] NM_145701,NM_017955 CDCA4,CDCA4 EXON Missense_G229R,Missense_G229R exm1134125 14 105477699 [T/C] NM_145701,NM_017955 CDCA4,CDCA4 EXON Missense_D190N,Missense_D190N exm1134137 14 105477863 [A/G] NM_145701,NM_017955 CDCA4,CDCA4 EXON Missense_A135V,Missense_A135V exm1134144 14 105477990 [T/C] NM_145701,NM_017955 CDCA4,CDCA4 EXON Missense_D93N,Missense_D93N exm1134165 14 105517420 [A/C] NM_013345 GPR132 EXON Missense_A352S exm2222096 14 105517423 [A/C] NM_013345 GPR132 EXON Missense_V351L exm2222097 14 105517428 [G/C] NM_013345 GPR132 EXON Missense_S349W exm1805242 14 105517492 [G/C] NM_013345 GPR132 EXON Missense_E328Q exm1134171 14 105517527 [T/C] NM_013345 GPR132 EXON Missense_R316H exm1134172 14 105517528 [A/G] NM_013345 GPR132 EXON Missense_R316C exm1134182 14 105517675 [T/C] NM_013345 GPR132 EXON Missense_A267T exm1134186 14 105517696 [C/G] NM_013345 GPR132 EXON Missense_L260V exm1134193 14 105517848 [A/G] NM_013345 GPR132 EXON Missense_A209V exm2274728 14 105517928 [T/G] NM_013345 GPR132 EXON Missense_D182E exm2251670 14 105518336 [T/G] NM_013345 GPR132 EXON Synonymous_V46V exm1134221 14 105518336 [T/G] NM_013345 GPR132 EXON Synonymous_V46V exm1134240 14 105609043 [T/C] NM_002226,NM_145159 JAG2,JAG2 EXON Missense_G1236S,Missense_G1198S exm1134241 14 105609046 [T/C] NM_002226,NM_145159 JAG2,JAG2 EXON Missense_A1235T,Missense_A1197T exm1134249 14 105609114 [A/G] NM_002226,NM_145159 JAG2,JAG2 EXON Missense_P1212L,Missense_P1174L exm1134250 14 105609130 [A/G] NM_002226,NM_145159 JAG2,JAG2 EXON Missense_R1207C,Missense_R1169C exm1134255 14 105609229 [T/C] NM_002226,NM_145159 JAG2,JAG2 EXON Missense_V1174I,Missense_V1136I exm1134262 14 105609279 [A/G] NM_002226,NM_145159 JAG2,JAG2 EXON Missense_P1157L,Missense_P1119L exm1134263 14 105609282 [A/G] NM_002226,NM_145159 JAG2,JAG2 EXON Missense_P1156L,Missense_P1118L exm1134268 14 105609325 [T/C] NM_002226,NM_145159 JAG2,JAG2 EXON Missense_G1142R,Missense_G1104R exm1134276 14 105609400 [A/G] NM_002226,NM_145159 JAG2,JAG2 EXON Missense_R1117W,Missense_R1079W exm1134282 14 105609459 [C/G] NM_002226,NM_145159 JAG2,JAG2 EXON Missense_A1097G,Missense_A1059G exm1134288 14 105609836 [A/G] NM_002226,NM_145159 JAG2,JAG2 EXON Missense_T1075M,Missense_T1037M exm1134299 14 105611328 [T/C] NM_002226,NM_145159 JAG2,JAG2 EXON Missense_R1008H,Missense_R970H exm1134309 14 105612184 [A/G] NM_002226,NM_145159 JAG2,JAG2 EXON Missense_W946R,Missense_W908R exm1134318 14 105612798 [A/G] NM_002226,NM_145159 JAG2,JAG2 EXON Missense_P878L,Missense_P840L exm1134323 14 105612959 [T/C] NM_002226,NM_145159 JAG2,JAG2 EXON Missense_R861Q,Missense_R823Q exm1134324 14 105612960 [A/G] NM_002226,NM_145159 JAG2,JAG2 EXON Missense_R861W,Missense_R823W exm1134342 14 105614224 [C/G] NM_002226,NM_145159 JAG2,JAG2 EXON Synonymous_A750A,Synonymous_A712A exm1134349 14 105614675 [T/G] NM_002226,NM_145159 JAG2,JAG2 EXON Missense_T708P,Missense_T670P exm1134357 14 105614734 [T/C] NM_002226,NM_145159 JAG2,JAG2 EXON Missense_R688H,Missense_R650H exm1134359 14 105614740 [T/C] NM_002226,NM_145159 JAG2,JAG2 EXON Missense_R686H,Missense_R648H exm1134360 14 105614753 [A/G] NM_002226,NM_145159 JAG2,JAG2 EXON Missense_P682S,Missense_P644S exm1134376 14 105615370 [T/C] NM_002226,NM_145159 JAG2,JAG2 EXON Missense_G604S,Missense_G566S exm1134378 14 105615389 [T/C] NM_002226,NM_145159 JAG2,JAG2 EXON Missense_M597I,Missense_M559I exm1134379 14 105615397 [A/G] NM_002226,NM_145159 JAG2,JAG2 EXON Missense_P595S,Missense_P557S exm1134389 14 105615648 [T/C] NM_002226,NM_145159 JAG2,JAG2 EXON Missense_D538N,Missense_D500N exm1134396 14 105617042 [T/C] NM_002226,NM_145159 JAG2,JAG2 EXON Missense_E501K,Missense_E463K exm1134397 14 105617081 [A/G] NM_002226,NM_145159 JAG2,JAG2 EXON Missense_R488W,Missense_R450W exm2275243 14 105617440 [A/G] NM_002226,NM_145159 JAG2,JAG2 EXON Synonymous_D423D,Silent exm1134413 14 105618302 [T/C] NM_002226,NM_145159 JAG2,JAG2 EXON Missense_G338S,Missense_G338S exm1134418 14 105618527 [A/G] NM_002226,NM_145159 JAG2,JAG2 EXON Missense_T297I,Missense_T297I exm2251671 14 105622160 [A/G] NM_002226,NM_145159 JAG2,JAG2 EXON Synonymous_R214R,Synonymous_R214R exm1134438 14 105622160 [A/G] NM_002226,NM_145159 JAG2,JAG2 EXON Synonymous_R214R,Synonymous_R214R exm2272148 14 105623612 [T/C] NM_002226,NM_145159 JAG2,JAG2 Silent,Silent exm1134476 14 105639582 [T/A] NM_177533 NUDT14 EXON Missense_T149S exm1134489 14 105642983 [T/C] NM_177533 NUDT14 EXON Missense_G106S exm1134493 14 105643046 [T/C] NM_177533 NUDT14 EXON Missense_G85R exm1134497 14 105643336 [A/G] NM_177533 NUDT14 EXON Missense_R52W exm1134499 14 105643354 [T/G] NM_177533 NUDT14 EXON Missense_L46I exm1134500 14 105643357 [T/C] NM_177533 NUDT14 EXON Missense_V45I exm1134507 14 105644058 [G/C] NM_177533 NUDT14 EXON Missense_K32N exm1134513 14 105677501 [T/C] NM_001242786,NM_001242787,NM_145685,NM_001242788,NM_001519,NM_001242789 BRF1,BRF1,BRF1,BRF1,BRF1,BRF1 EXON Missense_G559R,Missense_G537R,Missense_G448R,Missense_G625R,Missense_G652R,Missense_G414R exm1134520 14 105677579 [T/C] NM_001242786,NM_001242787,NM_145685,NM_001242788,NM_001519,NM_001242789 BRF1,BRF1,BRF1,BRF1,BRF1,BRF1 EXON Missense_A533T,Missense_A511T,Missense_A422T,Missense_A599T,Missense_A626T,Missense_A388T exm1134546 14 105685499 [T/C] NM_001242786,NM_001242787,NM_145685,NM_001242788,NM_001519,NM_001242789 BRF1,BRF1,BRF1,BRF1,BRF1,BRF1 EXON Missense_R390Q,Missense_R368Q,Missense_R279Q,Missense_R456Q,Missense_R483Q,Missense_R245Q exm1134568 14 105688183 [T/C] NM_001242786,NM_001242787,NM_145685,NM_001242788,NM_001519,NM_001242789 BRF1,BRF1,BRF1,BRF1,BRF1,BRF1 EXON Missense_A258T,Missense_A258T,Missense_A169T,Missense_A346T,Missense_A373T,Missense_A135T exm1134570 14 105688226 [C/G] NM_001242786,NM_001242787,NM_145685,NM_001242788,NM_001519,NM_001242789 BRF1,BRF1,BRF1,BRF1,BRF1,BRF1 EXON Missense_S243R,Missense_S243R,Missense_S154R,Missense_S331R,Missense_S358R,Missense_S120R exm1134577 14 105692467 [C/G] NM_001242786,NM_001242787,NM_145685,NM_001242788,NM_001519,NM_001242789 BRF1,BRF1,BRF1,BRF1,BRF1,BRF1 EXON Missense_E214D,Missense_E214D,Missense_E125D,Missense_E302D,Missense_E329D,Missense_E91D exm1134588 14 105695163 [T/C] NM_001242786,NM_001242787,NM_145685,NM_001242788,NM_001519,NM_001242789 BRF1,BRF1,BRF1,BRF1,BRF1,BRF1 EXON Missense_R146Q,Missense_R146Q,Missense_R57Q,Missense_R234Q,Missense_R261Q,Missense_R23Q exm1134596 14 105695249 [T/C] NM_001242786,NM_001242787,NM_145685,NM_001242788,NM_001519,NM_001242789 BRF1,BRF1,BRF1,BRF1,BRF1,BRF1 EXON Synonymous_A117A,Synonymous_A117A,Synonymous_A28A,Synonymous_A205A,Synonymous_A232A,Silent exm2251672 14 105707609 [A/G] NM_001242786,NM_001242787,NM_145685,NM_001242788,NM_001519,NM_001242789 BRF1,BRF1,BRF1,BRF1,BRF1,BRF1 EXON Synonymous_C114C,Synonymous_C114C,Synonymous_C25C,Synonymous_C202C,Synonymous_C229C,Silent exm1134670 14 105716757 [C/G] NM_001242786,NM_001242787,NM_001242788,NM_001519,NM_033271 BRF1,BRF1,BRF1,BRF1,BTBD6 EXON Silent,Silent,Silent,Silent,Missense_L402F exm1134698 14 105739075 [T/C] NM_001242786,NM_001242787,NM_001242788,NM_001519,NM_001242790 BRF1,BRF1,BRF1,BRF1,BRF1 EXON Missense_R26H,Missense_R26H,Missense_R114H,Missense_R141H,Missense_R141H exm2251673 14 105752655 [C/G] NM_001242786,NM_001242787,NM_001242788,NM_001519,NM_001242790 BRF1,BRF1,BRF1,BRF1,BRF1 EXON Silent,Silent,Silent,Synonymous_S81S,Synonymous_S81S exm1134708 14 105752675 [T/C] NM_001242786,NM_001242787,NM_001242788,NM_001519,NM_001242790 BRF1,BRF1,BRF1,BRF1,BRF1 EXON Silent,Silent,Silent,Missense_V75M,Missense_V75M exm1134719 14 105814891 [T/G] NM_001243127,NM_015197,NM_001100913 PACS2,PACS2,PACS2 EXON Silent,Missense_S61A,Missense_S61A exm1134723 14 105818761 [T/G] NM_001243127,NM_015197,NM_001100913 PACS2,PACS2,PACS2 EXON Missense_S18I,Missense_S85I,Missense_S85I exm1134736 14 105833623 [T/C] NM_001243127,NM_015197,NM_001100913 PACS2,PACS2,PACS2 EXON Missense_A99V,Missense_A166V,Missense_A166V exm1134738 14 105833679 [A/G] NM_001243127,NM_015197,NM_001100913 PACS2,PACS2,PACS2 EXON Missense_T118A,Missense_T185A,Missense_T185A exm1134741 14 105834470 [A/G] NM_001243127,NM_015197,NM_001100913 PACS2,PACS2,PACS2 EXON Missense_A149T,Missense_A216T,Missense_A216T exm2276361 14 105836234 [A/C] NM_001243127,NM_015197,NM_001100913 PACS2,PACS2,PACS2 EXON Missense_D191E,Missense_D266E,Missense_D266E exm1805475 14 105836234 [T/C] NM_001243127,NM_015197,NM_001100913 PACS2,PACS2,PACS2 EXON Synonymous_D191D,Synonymous_D266D,Synonymous_D266D exm1134764 14 105846137 [A/G] NM_001243127,NM_015197,NM_001100913 PACS2,PACS2,PACS2 EXON Missense_A266T,Missense_A341T,Missense_A341T exm1134777 14 105847306 [T/C] NM_001243127,NM_015197,NM_001100913 PACS2,PACS2,PACS2 EXON Missense_P305S,Missense_P380S,Missense_P380S exm1134780 14 105847365 [T/G] NM_001243127,NM_015197,NM_001100913 PACS2,PACS2,PACS2 EXON Missense_D324E,Missense_D399E,Missense_D399E exm1134781 14 105847373 [T/C] NM_001243127,NM_015197,NM_001100913 PACS2,PACS2,PACS2 EXON Missense_T327M,Missense_T402M,Missense_T402M exm1134820 14 105850798 [T/C] NM_001243127,NM_015197,NM_001100913 PACS2,PACS2,PACS2 EXON Missense_A551V,Missense_A626V,Missense_A630V exm1134830 14 105857969 [T/C] NM_001243127,NM_015197,NM_001100913 PACS2,PACS2,PACS2 EXON Synonymous_G617G,Synonymous_G692G,Synonymous_G707G exm1134843 14 105858969 [A/G] NM_001243127,NM_015197,NM_001100913 PACS2,PACS2,PACS2 EXON Missense_A667T,Missense_A742T,Missense_A757T exm1134854 14 105860980 [A/G] NM_001243127,NM_015197,NM_001100913 PACS2,PACS2,PACS2 EXON Missense_I806V,Missense_I881V,Missense_I896V exm2251674 14 105915724 [A/G] NM_001203258,NM_004689 MTA1,MTA1 EXON Synonymous_P73P,Synonymous_P73P exm2251675 14 105916507 [T/C] NM_001203258,NM_004689 MTA1,MTA1 EXON Synonymous_P118P,Synonymous_P118P exm1134928 14 105930406 [A/G] NM_001203258,NM_004689 MTA1,MTA1 EXON Missense_V372I,Missense_V372I exm1134937 14 105930437 [T/C] NM_001203258,NM_004689 MTA1,MTA1 EXON Missense_A382V,Missense_A382V exm1134968 14 105932804 [A/G] NM_001203258,NM_004689 MTA1,MTA1 EXON Silent,Missense_V556M exm1134983 14 105935830 [T/C] NM_001203258,NM_004689 MTA1,MTA1 EXON Silent,Missense_H614Y exm2251677 14 105936300 [T/C] NM_001203258,NM_004689 MTA1,MTA1 EXON Silent,Synonymous_D656D exm1134997 14 105936300 [T/C] NM_001203258,NM_004689 MTA1,MTA1 EXON Silent,Synonymous_D656D exm1135003 14 105936506 [T/C] NM_001203258,NM_004689 MTA1,MTA1 EXON Silent,Missense_P701L exm1135018 14 105944827 [C/G] NM_001270837,NR_073082,NR_073081,NM_001270841,NR_073083,NM_001312,NR_073084,NR_073085 CRIP2,CRIP2,CRIP2,CRIP2,CRIP2,CRIP2,CRIP2,CRIP2 EXON Missense_T134S,Silent,Silent,Silent,Silent,Missense_T60S,Silent,Silent exm1135069 14 105954687 [T/G] NM_001311 CRIP1 EXON Missense_C52F exm1135071 14 105954705 [T/C] NM_001311 CRIP1 EXON Missense_A58V exm1135081 14 105957446 [A/G] NM_001198983,NM_001134877 C14orf80,C14orf80 EXON Missense_G3S,Missense_G3S exm1135085 14 105958456 [A/G] NM_001198983,NM_001134877,NM_001134876,NM_001134875 C14orf80,C14orf80,C14orf80,C14orf80 EXON Missense_R41H,Missense_R39H,Missense_R80H,Missense_R80H exm1135097 14 105960182 [A/G] NM_001198983,NM_001134877,NM_001134876,NM_001134875 C14orf80,C14orf80,C14orf80,C14orf80 EXON Silent,Silent,Silent,Missense_Y199C exm1135098 14 105960187 [T/C] NM_001198983,NM_001134877,NM_001134876,NM_001134875 C14orf80,C14orf80,C14orf80,C14orf80 EXON Silent,Silent,Silent,Missense_R201C exm1135099 14 105960188 [A/G] NM_001198983,NM_001134877,NM_001134876,NM_001134875 C14orf80,C14orf80,C14orf80,C14orf80 EXON Silent,Silent,Silent,Missense_R201H exm1135103 14 105960199 [A/G] NM_001198983,NM_001134877,NM_001134876,NM_001134875 C14orf80,C14orf80,C14orf80,C14orf80 EXON Silent,Silent,Silent,Missense_S205G exm1135105 14 105960202 [A/G] NM_001198983,NM_001134877,NM_001134876,NM_001134875 C14orf80,C14orf80,C14orf80,C14orf80 EXON Silent,Silent,Silent,Missense_D206N exm1135108 14 105960242 [T/C] NM_001198983,NM_001134877,NM_001134876,NM_001134875 C14orf80,C14orf80,C14orf80,C14orf80 EXON Silent,Silent,Silent,Missense_M219T exm1135109 14 105960259 [A/G] NM_001198983,NM_001134877,NM_001134876,NM_001134875 C14orf80,C14orf80,C14orf80,C14orf80 EXON Silent,Silent,Silent,Missense_G225R exm1135116 14 105963700 [T/C] NM_001198983,NM_001134877,NM_001134876,NM_001134875 C14orf80,C14orf80,C14orf80,C14orf80 EXON Missense_R159W,Missense_R157W,Missense_R198W,Missense_R231W exm1135117 14 105963701 [A/G] NM_001198983,NM_001134877,NM_001134876,NM_001134875 C14orf80,C14orf80,C14orf80,C14orf80 EXON Missense_R159Q,Missense_R157Q,Missense_R198Q,Missense_R231Q exm2222119 14 105964213 [T/C] NM_001198983,NM_001134877,NM_001134876,NM_001134875 C14orf80,C14orf80,C14orf80,C14orf80 EXON Missense_R212C,Missense_R210C,Missense_R251C,Missense_R284C exm1135147 14 105964996 [T/C] NM_001198983,NM_001134877,NM_001134876,NM_001134875 C14orf80,C14orf80,C14orf80,C14orf80 EXON Missense_R260W,Missense_R258W,Missense_R299W,Missense_R332W exm1135155 14 105965066 [T/C] NM_001198983,NM_001134877,NM_001134876,NM_001134875 C14orf80,C14orf80,C14orf80,C14orf80 EXON Missense_P283L,Missense_P281L,Missense_P322L,Missense_P355L exm1135159 14 105965102 [A/G] NM_001198983,NM_001134877,NM_001134876,NM_001134875 C14orf80,C14orf80,C14orf80,C14orf80 EXON Missense_R295Q,Missense_R293Q,Missense_R334Q,Missense_R367Q exm1135160 14 105965125 [T/C] NM_001198983,NM_001134877,NM_001134876,NM_001134875 C14orf80,C14orf80,C14orf80,C14orf80 EXON Missense_R303W,Missense_R301W,Missense_R342W,Missense_R375W exm1135166 14 105965168 [A/G] NM_001198983,NM_001134877,NM_001134876,NM_001134875 C14orf80,C14orf80,C14orf80,C14orf80 EXON Missense_Q317R,Missense_Q315R,Missense_Q356R,Missense_Q389R exm1135169 14 105965194 [T/C] NM_001198983,NM_001134877,NM_001134876,NM_001134875 C14orf80,C14orf80,C14orf80,C14orf80 EXON Missense_R326C,Missense_R324C,Missense_R365C,Missense_R398C exm1135170 14 105965195 [A/G] NM_001198983,NM_001134877,NM_001134876,NM_001134875 C14orf80,C14orf80,C14orf80,C14orf80 EXON Missense_R326H,Missense_R324H,Missense_R365H,Missense_R398H exm1135172 14 105965198 [A/G] NM_001198983,NM_001134877,NM_001134876,NM_001134875 C14orf80,C14orf80,C14orf80,C14orf80 EXON Missense_R327Q,Missense_R325Q,Missense_R366Q,Missense_R399Q exm1135173 14 105965215 [T/C] NM_001198983,NM_001134877,NM_001134876,NM_001134875 C14orf80,C14orf80,C14orf80,C14orf80 EXON Missense_R333W,Missense_R331W,Missense_R372W,Missense_R405W exm1135174 14 105965245 [T/C] NM_001198983,NM_001134877,NM_001134876,NM_001134875 C14orf80,C14orf80,C14orf80,C14orf80 EXON Missense_R343C,Missense_R341C,Missense_R382C,Missense_R415C exm2267741 14 106054456 [A/G] exm2267696 14 107212287 [A/G] exm2267742 14 107281980 [A/G] exm1140790 15 22368588 [A/G] NR_015416,NM_001004719 LOC727924,OR4M2 EXON Silent,Missense_N5D exm1140799 15 22368706 [T/G] NR_015416,NM_001004719 LOC727924,OR4M2 EXON Silent,Missense_L44R exm1824992 15 22368729 [A/G] NR_015416,NM_001004719 LOC727924,OR4M2 EXON Silent,Missense_D52N exm1140818 15 22368856 [A/T] NR_015416,NM_001004719 LOC727924,OR4M2 EXON Silent,Missense_F94Y exm1140821 15 22368901 [T/C] NR_015416,NM_001004719 LOC727924,OR4M2 EXON Silent,Missense_A109V exm1824994 15 22368918 [A/C] NR_015416,NM_001004719 LOC727924,OR4M2 EXON Silent,Missense_L115I exm1140825 15 22368936 [A/G] NR_015416,NM_001004719 LOC727924,OR4M2 EXON Silent,Missense_D121N exm1140829 15 22368987 [C/G] NR_015416,NM_001004719 LOC727924,OR4M2 EXON Silent,Missense_Q138E exm1140833 15 22369049 [A/G] NR_015416,NM_001004719 LOC727924,OR4M2 EXON Silent,Missense_I158M exm1140862 15 22369279 [C/G] NR_015416,NM_001004719 LOC727924,OR4M2 EXON Silent,Missense_T235S exm1140871 15 22369360 [A/G] NR_015416,NM_001004719 LOC727924,OR4M2 EXON Silent,Missense_R262H exm1140891 15 22382531 [G/C] NM_001005241 OR4N4 EXON Missense_S20C exm1140921 15 22382854 [T/C] NM_001005241 OR4N4 EXON Missense_R128W exm2252062 15 22382860 [T/C] NM_001005241 OR4N4 EXON Synonymous_L130L exm1140928 15 22382893 [T/G] NM_001005241 OR4N4 EXON Missense_C141G exm1140954 15 22383188 [T/C] NM_001005241 OR4N4 EXON Missense_T239M exm1140961 15 22383249 [A/G] NM_001005241 OR4N4 EXON Missense_M259I exm1140965 15 22383292 [T/C] NM_001005241 OR4N4 EXON Missense_F274L exm1140966 15 22383299 [T/C] NM_001005241 OR4N4 EXON Missense_T276I exm2264555 15 22816713 [A/C] exm1141104 15 22833543 [T/C] NM_001102610,NM_052903 TUBGCP5,TUBGCP5 EXON Missense_P7S,Missense_P7S exm1141110 15 22833654 [A/G] NM_001102610,NM_052903 TUBGCP5,TUBGCP5 EXON Missense_A44T,Missense_A44T exm1141114 15 22835951 [A/T] NM_001102610,NM_052903 TUBGCP5,TUBGCP5 EXON Missense_I61K,Missense_I61K exm1141115 15 22835953 [A/G] NM_001102610,NM_052903 TUBGCP5,TUBGCP5 EXON Missense_E62K,Missense_E62K exm1141135 15 22845832 [T/G] NM_001102610,NM_052903 TUBGCP5,TUBGCP5 EXON Missense_Q231H,Missense_Q231H exm1141138 15 22846897 [A/G] NM_001102610,NM_052903 TUBGCP5,TUBGCP5 EXON Missense_V258I,Missense_V258I exm1141140 15 22846945 [A/T] NM_001102610,NM_052903 TUBGCP5,TUBGCP5 EXON Missense_T274S,Missense_T274S exm1141154 15 22850913 [T/C] NM_001102610,NM_052903 TUBGCP5,TUBGCP5 EXON Missense_T392I,Missense_T392I exm1141156 15 22851020 [C/G] NM_001102610,NM_052903 TUBGCP5,TUBGCP5 EXON Missense_R428G,Missense_R428G exm1141160 15 22851110 [A/G] NM_001102610,NM_052903 TUBGCP5,TUBGCP5 Silent,Silent exm1141165 15 22853786 [T/C] NM_001102610,NM_052903 TUBGCP5,TUBGCP5 EXON Missense_T475M,Missense_T475M exm1825127 15 22853794 [A/G] NM_001102610,NM_052903 TUBGCP5,TUBGCP5 EXON Missense_E478K,Missense_E478K exm1141179 15 22861793 [T/C] NM_001102610,NM_052903 TUBGCP5,TUBGCP5 EXON Nonsense_R605X,Nonsense_R605X exm1141188 15 22862978 [A/G] NM_001102610,NM_052903 TUBGCP5,TUBGCP5 EXON Missense_G667S,Missense_G667S exm1141198 15 22864369 [A/G] NM_001102610,NM_052903 TUBGCP5,TUBGCP5 EXON Missense_R776H,Missense_R776H exm1141204 15 22867520 [T/G] NM_001102610,NM_052903 TUBGCP5,TUBGCP5 EXON Missense_V866F,Missense_V866F exm1141205 15 22867532 [A/G] NM_001102610,NM_052903 TUBGCP5,TUBGCP5 EXON Missense_G870R,Missense_G870R exm1141207 15 22867569 [A/G] NM_001102610,NM_052903 TUBGCP5,TUBGCP5 EXON Missense_R882H,Missense_R882H exm1141217 15 22869996 [A/G] NM_001102610,NM_052903 TUBGCP5,TUBGCP5 EXON Missense_T974A,Missense_T974A exm1141255 15 22933860 [A/G] NM_014608 CYFIP1 EXON Missense_K260R exm1141256 15 22933862 [A/C] NM_014608 CYFIP1 EXON Missense_H261N exm1141281 15 22945082 [A/G] NM_014608 CYFIP1 EXON Missense_A385T exm1141287 15 22947032 [T/C] NM_014608 CYFIP1 EXON Synonymous_Y435Y exm1141295 15 22954276 [A/G] NM_014608 CYFIP1 EXON Missense_I476V exm1141304 15 22955238 [A/C] NM_014608 CYFIP1 EXON Missense_D544E exm1141320 15 22956327 [T/C] NM_014608,NM_001033028 CYFIP1,CYFIP1 EXON Silent,Missense_P91S exm1825219 15 22958204 [A/G] NM_014608,NM_001033028 CYFIP1,CYFIP1 EXON Missense_C616Y,Missense_C185Y exm1141358 15 22963816 [A/G] NM_014608,NM_001033028 CYFIP1,CYFIP1 EXON Missense_Y777C,Missense_Y346C exm1141359 15 22963869 [A/G] NM_014608,NM_001033028 CYFIP1,CYFIP1 EXON Missense_I795V,Missense_I364V exm1141363 15 22969191 [A/G] NM_014608,NM_001033028 CYFIP1,CYFIP1 EXON Missense_R806H,Missense_R375H exm1141368 15 22969232 [A/G] NM_014608,NM_001033028 CYFIP1,CYFIP1 EXON Missense_G820S,Missense_G389S exm1141369 15 22969233 [A/G] NM_014608,NM_001033028 CYFIP1,CYFIP1 EXON Missense_G820D,Missense_G389D exm1141370 15 22969238 [A/G] NM_014608,NM_001033028 CYFIP1,CYFIP1 EXON Missense_D822N,Missense_D391N exm1141380 15 22990087 [A/G] NM_014608,NM_001033028 CYFIP1,CYFIP1 EXON Missense_G903S,Missense_G472S exm1141386 15 22990189 [A/G] NM_014608,NM_001033028 CYFIP1,CYFIP1 EXON Missense_V937I,Missense_V506I exm1141388 15 22991156 [A/G] NM_014608,NM_001033028 CYFIP1,CYFIP1 EXON Missense_V949M,Missense_V518M exm1141399 15 22993121 [T/C] NM_014608,NM_001033028 CYFIP1,CYFIP1 EXON Missense_A1003V,Missense_A572V exm1141416 15 22999403 [T/C] NM_014608,NM_001033028 CYFIP1,CYFIP1 EXON Missense_M1092T,Missense_M661T exm1141424 15 23000188 [A/G] NM_014608,NM_001033028 CYFIP1,CYFIP1 EXON Missense_Y1181C,Missense_Y750C exm1141425 15 23000199 [A/G] NM_014608,NM_001033028 CYFIP1,CYFIP1 EXON Missense_K1185E,Missense_K754E exm1141448 15 23006272 [T/G] NM_001008894,NM_001184889,NM_030922,NM_001184888,NM_001008860,NM_001008892 NIPA2,NIPA2,NIPA2,NIPA2,NIPA2,NIPA2 EXON Missense_Q325H,Missense_Q344H,Missense_Q344H,Missense_Q325H,Missense_Q344H,Missense_Q344H exm1141452 15 23006304 [T/C] NM_001008894,NM_001184889,NM_030922,NM_001184888,NM_001008860,NM_001008892 NIPA2,NIPA2,NIPA2,NIPA2,NIPA2,NIPA2 EXON Missense_N315D,Missense_N334D,Missense_N334D,Missense_N315D,Missense_N334D,Missense_N334D exm1141472 15 23006675 [T/C] NM_001008894,NM_001184889,NM_030922,NM_001184888,NM_001008860,NM_001008892 NIPA2,NIPA2,NIPA2,NIPA2,NIPA2,NIPA2 EXON Missense_K191R,Missense_K210R,Missense_K210R,Missense_K191R,Missense_K210R,Missense_K210R exm1141473 15 23006679 [G/C] NM_001008894,NM_001184889,NM_030922,NM_001184888,NM_001008860,NM_001008892 NIPA2,NIPA2,NIPA2,NIPA2,NIPA2,NIPA2 EXON Missense_G190R,Missense_G209R,Missense_G209R,Missense_G190R,Missense_G209R,Missense_G209R exm1141490 15 23014492 [A/G] NM_001008894,NM_001184889,NM_030922,NM_001184888,NM_001008860,NM_001008892 NIPA2,NIPA2,NIPA2,NIPA2,NIPA2,NIPA2 EXON Missense_A59V,Missense_A78V,Missense_A78V,Missense_A59V,Missense_A78V,Missense_A78V exm1141491 15 23014502 [T/C] NM_001008894,NM_001184889,NM_030922,NM_001184888,NM_001008860,NM_001008892 NIPA2,NIPA2,NIPA2,NIPA2,NIPA2,NIPA2 EXON Missense_A56T,Missense_A75T,Missense_A75T,Missense_A56T,Missense_A75T,Missense_A75T exm2267749 15 23043896 [A/G] NM_001142275,NM_144599 NIPA1,NIPA1 EXON Silent,Silent exm2252065 15 23060841 [C/G] NM_001142275,NM_144599 NIPA1,NIPA1 EXON Missense_P38R,Synonymous_P97P exm1141526 15 23060899 [A/C] NM_001142275,NM_144599 NIPA1,NIPA1 EXON Missense_L19V,Missense_V78G exm2267816 15 23077857 [A/G] NM_001142275,NM_144599 NIPA1,NIPA1 Silent,Silent exm2267750 15 23730704 [A/G] exm2260406 15 23782201 [A/G] exm1141621 15 23811246 [A/G] NM_005664 MKRN3 EXON Missense_H106R exm1141639 15 23811495 [A/G] NM_005664 MKRN3 EXON Missense_R189H exm1825352 15 23811710 [T/C] NM_005664 MKRN3 EXON Missense_L261F exm1141657 15 23811724 [A/G] NM_005664 MKRN3 EXON Missense_I265M exm1141661 15 23811907 [C/G] NM_005664 MKRN3 EXON Missense_D326E exm1141669 15 23812040 [G/C] NM_005664 MKRN3 EXON Missense_V371L exm1141684 15 23812386 [C/G] NM_005664 MKRN3 EXON Missense_P486R exm1141691 15 23812448 [C/G] NM_005664 MKRN3 EXON Missense_L507V exm1141696 15 23889200 [G/C] NM_019066 MAGEL2 EXON Missense_E1230D exm1141701 15 23889415 [T/C] NM_019066 MAGEL2 EXON Missense_E1159K exm1141708 15 23889739 [T/G] NM_019066 MAGEL2 EXON Missense_L1051I exm1141712 15 23889844 [A/G] NM_019066 MAGEL2 EXON Missense_P1016S exm1141714 15 23889873 [G/C] NM_019066 MAGEL2 EXON Missense_T1006S exm1141734 15 23890198 [T/C] NM_019066 MAGEL2 EXON Missense_S898G exm1141736 15 23890230 [T/C] NM_019066 MAGEL2 EXON Missense_R887Q exm1141741 15 23890257 [A/G] NM_019066 MAGEL2 EXON Missense_P878L exm1141743 15 23890278 [A/G] NM_019066 MAGEL2 EXON Missense_A871V exm1141744 15 23890279 [A/C] NM_019066 MAGEL2 EXON Missense_A871S exm1141753 15 23890528 [T/A] NM_019066 MAGEL2 EXON Missense_S788C exm1141758 15 23890600 [T/C] NM_019066 MAGEL2 EXON Missense_A764T exm1141759 15 23890609 [G/C] NM_019066 MAGEL2 EXON Missense_A761P exm1141765 15 23890816 [T/C] NM_019066 MAGEL2 EXON Missense_V692I exm1141784 15 23891852 [G/C] NM_019066 MAGEL2 EXON Missense_R346S exm1141785 15 23891989 [A/G] NM_019066 MAGEL2 EXON Missense_P301S exm2223080 15 23892037 [T/C] NM_019066 MAGEL2 EXON Missense_G285R exm1141800 15 23892505 [T/C] NM_019066 MAGEL2 EXON Missense_M129V exm1141813 15 23931416 [T/C] NM_002487 NDN EXON Missense_S317G exm2267751 15 24152993 [A/G] exm2272210 15 24850224 [T/C] exm1141858 15 24921292 [T/C] NM_018958 NPAP1 EXON Missense_A93V exm1141867 15 24921436 [T/C] NM_018958 NPAP1 EXON Missense_I141T exm1141868 15 24921468 [T/C] NM_018958 NPAP1 EXON Missense_W152R exm1141869 15 24921493 [T/G] NM_018958 NPAP1 EXON Missense_V160G exm1141874 15 24921561 [A/G] NM_018958 NPAP1 EXON Missense_G183R exm1141883 15 24921649 [T/C] NM_018958 NPAP1 EXON Missense_V212A exm1141885 15 24921677 [A/G] NM_018958 NPAP1 EXON Missense_M221I exm1141894 15 24921804 [G/C] NM_018958 NPAP1 EXON Missense_E264Q exm1141898 15 24921835 [A/G] NM_018958 NPAP1 EXON Missense_Q274R exm1141899 15 24921859 [A/G] NM_018958 NPAP1 EXON Missense_N282S exm1141900 15 24921894 [A/G] NM_018958 NPAP1 EXON Missense_I294V exm1141906 15 24921983 [A/C] NM_018958 NPAP1 EXON Missense_N323K exm1141908 15 24922041 [G/C] NM_018958 NPAP1 EXON Missense_P343A exm1141909 15 24922053 [T/G] NM_018958 NPAP1 EXON Missense_D347Y exm1141913 15 24922230 [G/C] NM_018958 NPAP1 EXON Missense_Q406E exm1141919 15 24922407 [T/C] NM_018958 NPAP1 EXON Missense_L465F exm1141928 15 24922545 [A/G] NM_018958 NPAP1 EXON Missense_V511I exm1141930 15 24922560 [T/C] NM_018958 NPAP1 EXON Missense_P516S exm1141931 15 24922629 [A/G] NM_018958 NPAP1 EXON Missense_G539R exm1141932 15 24922680 [A/G] NM_018958 NPAP1 EXON Missense_T556A exm1141933 15 24922695 [A/G] NM_018958 NPAP1 EXON Missense_A561T exm1141935 15 24922743 [A/G] NM_018958 NPAP1 EXON Missense_N577D exm1141941 15 24922853 [C/G] NM_018958 NPAP1 EXON Missense_H613Q exm1141945 15 24922932 [A/G] NM_018958 NPAP1 EXON Missense_G640R exm1141952 15 24923062 [A/G] NM_018958 NPAP1 EXON Missense_N683S exm1141954 15 24923092 [T/C] NM_018958 NPAP1 EXON Missense_P693L exm1141955 15 24923107 [A/G] NM_018958 NPAP1 EXON Missense_N698S exm1141963 15 24923283 [A/G] NM_018958 NPAP1 EXON Missense_A757T exm1825409 15 24923403 [A/G] NM_018958 NPAP1 EXON Missense_I797V exm1141981 15 24923670 [A/G] NM_018958 NPAP1 EXON Missense_T886A exm1141983 15 24923799 [A/C] NM_018958 NPAP1 EXON Missense_T929P exm1141992 15 24924042 [A/G] NM_018958 NPAP1 EXON Missense_G1010R exm1141994 15 24924060 [T/G] NM_018958 NPAP1 EXON Missense_D1016Y exm1141996 15 24924102 [A/G] NM_018958 NPAP1 EXON Missense_S1030G exm1141997 15 24924120 [T/C] NM_018958 NPAP1 EXON Missense_L1036F exm1141998 15 24924140 [C/G] NM_018958 NPAP1 EXON Missense_Q1042H exm1142000 15 24924236 [G/C] NM_018958 NPAP1 EXON Missense_S1074R exm1142003 15 24924316 [A/G] NM_018958 NPAP1 EXON Missense_G1101D exm1142004 15 24924346 [T/C] NM_018958 NPAP1 EXON Missense_V1111A exm1142005 15 24924355 [T/C] NM_018958 NPAP1 EXON Missense_P1114L exm1142007 15 24924412 [T/G] NM_018958 NPAP1 EXON Missense_F1133C exm2260407 15 24977909 [T/C] exm-rs3867498 15 25078787 [A/G] NM_022806,NM_022807,NM_022808 SNRPN,SNRPN,SNRPN Silent,Silent,Silent exm2252072 15 25115552 [T/C] NM_022806,NM_022807,NM_022808,NM_022805 SNRPN,SNRPN,SNRPN,SNRPN Silent,Silent,Silent,Silent exm1142022 15 25207298 [A/G] NM_022806,NM_022807,NM_022808,NM_022805,NM_022804,NM_005678,NM_003097 SNRPN,SNRPN,SNRPN,SNRPN,SNURF,SNURF,SNRPN EXON Silent,Silent,Silent,Silent,Missense_V18I,Missense_V18I,Silent exm1142026 15 25213097 [C/G] NM_022806,NM_022807,NM_022808,NM_022805,NM_022804,NM_005678,NM_003097 SNRPN,SNRPN,SNRPN,SNRPN,SNURF,SNURF,SNRPN EXON Silent,Silent,Silent,Silent,Missense_R43S,Missense_R43S,Silent exm1142027 15 25213099 [A/G] NM_022806,NM_022807,NM_022808,NM_022805,NM_022804,NM_005678,NM_003097 SNRPN,SNRPN,SNRPN,SNRPN,SNURF,SNURF,SNRPN EXON Silent,Silent,Silent,Silent,Missense_R44H,Missense_R44H,Silent exm2267818 15 25494501 [A/G] exm1142468 15 25601067 [T/G] NM_130839,NM_130838,NM_000462 UBE3A,UBE3A,UBE3A EXON Missense_K699T,Missense_K679T,Missense_K702T exm1142499 15 25616494 [T/C] NM_130839,NM_130838,NM_000462 UBE3A,UBE3A,UBE3A EXON Missense_R276Q,Missense_R256Q,Missense_R279Q exm1142501 15 25616506 [T/C] NM_130839,NM_130838,NM_000462 UBE3A,UBE3A,UBE3A EXON Missense_N272S,Missense_N252S,Missense_N275S exm1142506 15 25616729 [T/C] NM_130839,NM_130838,NM_000462 UBE3A,UBE3A,UBE3A EXON Missense_A198T,Missense_A178T,Missense_A201T exm-rs17636733 15 25912339 [T/C] exm1142522 15 25924498 [T/C] NM_024490 ATP10A EXON Missense_R1497Q exm1142527 15 25924582 [C/G] NM_024490 ATP10A EXON Missense_R1469P exm1142531 15 25924615 [T/C] NM_024490 ATP10A EXON Missense_R1458Q exm1142534 15 25924659 [A/G] NM_024490 ATP10A EXON Synonymous_S1443S exm2252075 15 25924659 [A/G] NM_024490 ATP10A EXON Synonymous_S1443S exm1142542 15 25924798 [A/G] NM_024490 ATP10A EXON Missense_A1397V exm1142547 15 25924865 [T/C] NM_024490 ATP10A EXON Missense_M1375V exm1142551 15 25924909 [A/G] NM_024490 ATP10A EXON Missense_P1360L exm2274731 15 25924967 [A/C] NM_024490 ATP10A EXON Missense_G1341W exm1142559 15 25925002 [T/C] NM_024490 ATP10A EXON Missense_R1329H exm1142564 15 25925095 [T/C] NM_024490 ATP10A EXON Missense_R1298K exm1142569 15 25925284 [T/C] NM_024490 ATP10A EXON Missense_A1284T exm1142570 15 25925339 [T/C] NM_024490 ATP10A EXON Missense_M1265I exm1142579 15 25925449 [A/G] NM_024490 ATP10A EXON Missense_L1229F exm1142582 15 25925990 [T/G] NM_024490 ATP10A EXON Missense_F1215L exm1142583 15 25926003 [A/G] NM_024490 ATP10A EXON Missense_A1211V exm1142585 15 25926043 [T/C] NM_024490 ATP10A EXON Missense_V1198M exm1142589 15 25926152 [T/C] NM_024490 ATP10A EXON Missense_I1188V exm1142590 15 25926179 [T/C] NM_024490 ATP10A EXON Missense_A1179T exm1142598 15 25928494 [A/T] NM_024490 ATP10A EXON Missense_D1144V exm1142610 15 25936865 [T/C] NM_024490 ATP10A EXON Missense_M1054I exm1142614 15 25940058 [T/C] NM_024490 ATP10A EXON Missense_R999H exm1142615 15 25940059 [A/G] NM_024490 ATP10A EXON Missense_R999C exm1142620 15 25940131 [T/C] NM_024490 ATP10A EXON Missense_D975N exm1142626 15 25940169 [A/G] NM_024490 ATP10A EXON Missense_T962M exm1142631 15 25940254 [T/C] NM_024490 ATP10A EXON Missense_V934M exm2223088 15 25947095 [T/C] NM_024490 ATP10A EXON Missense_E910K exm1142645 15 25947116 [A/T] NM_024490 ATP10A EXON Missense_C903S exm1142648 15 25947181 [A/G] NM_024490 ATP10A EXON Missense_A881V exm1825714 15 25947187 [T/C] NM_024490 ATP10A EXON Missense_R879H exm1142657 15 25953198 [T/C] NM_024490 ATP10A EXON Missense_E834K exm1142669 15 25959032 [G/C] NM_024490 ATP10A EXON Missense_N711K exm1142674 15 25959099 [T/C] NM_024490 ATP10A EXON Missense_R689H exm1142675 15 25959109 [T/C] NM_024490 ATP10A EXON Missense_E686K exm1825729 15 25959129 [A/G] NM_024490 ATP10A EXON Missense_S679L exm1142684 15 25959298 [T/C] NM_024490 ATP10A EXON Missense_S623G exm1142690 15 25959388 [T/C] NM_024490 ATP10A EXON Missense_V593M exm1142692 15 25961884 [T/C] NM_024490 ATP10A EXON Missense_R590Q exm1142700 15 25961951 [T/C] NM_024490 ATP10A EXON Missense_V568I exm1142704 15 25961968 [A/G] NM_024490 ATP10A EXON Missense_S562L exm1142712 15 25962058 [A/G] NM_024490 ATP10A EXON Missense_T532M exm1142719 15 25963399 [T/C] NM_024490 ATP10A EXON Missense_R504H exm1142720 15 25963402 [T/C] NM_024490 ATP10A EXON Missense_R503Q exm1142727 15 25963456 [T/C] NM_024490 ATP10A EXON Missense_G485D exm1142731 15 25963484 [T/C] NM_024490 ATP10A EXON Missense_G476S exm1142734 15 25963545 [A/C] NM_024490 ATP10A EXON Synonymous_A455A exm1142744 15 25966908 [A/T] NM_024490 ATP10A EXON Missense_Q420L exm1142745 15 25966909 [T/G] NM_024490 ATP10A EXON Missense_Q420K exm1142748 15 25966954 [T/A] NM_024490 ATP10A EXON Missense_S405T exm1142757 15 25969047 [T/C] NM_024490 ATP10A EXON Missense_I367M exm1142758 15 25969049 [T/C] NM_024490 ATP10A EXON Missense_I367V exm1142760 15 25969090 [T/G] NM_024490 ATP10A EXON Missense_S353Y exm1825749 15 25971136 [A/G] NM_024490 ATP10A EXON Missense_V314A exm1142770 15 25971182 [A/G] NM_024490 ATP10A EXON Missense_R299C exm1142780 15 25981206 [T/C] NM_024490 ATP10A EXON Missense_C246Y exm1825758 15 25981213 [A/G] NM_024490 ATP10A EXON Missense_R244C exm1142792 15 26026249 [T/C] NM_024490 ATP10A EXON Missense_G191R exm1142793 15 26026252 [T/C] NM_024490 ATP10A EXON Missense_D190N exm1142798 15 26026311 [T/C] NM_024490 ATP10A EXON Missense_R170H exm2252077 15 26026328 [A/G] NM_024490 ATP10A EXON Synonymous_H164H exm2272213 15 26402601 [T/C] exm1825770 15 26793158 [A/G] NM_001191320,NM_001191321,NM_021912,NM_000814 GABRB3,GABRB3,GABRB3,GABRB3 EXON Missense_Y317H,Missense_Y331H,Missense_Y402H,Missense_Y402H exm1142832 15 26806101 [T/C] NM_001191320,NM_001191321,NM_021912,NM_000814 GABRB3,GABRB3,GABRB3,GABRB3 EXON Missense_R268H,Missense_R282H,Missense_R353H,Missense_R353H exm-rs10873636 15 26888978 [T/G] NM_001191320,NM_021912,NM_000814 GABRB3,GABRB3,GABRB3 Silent,Silent,Silent exm2272214 15 26967770 [T/C] NM_021912,NM_000814 GABRB3,GABRB3 Silent,Silent exm-rs8043440 15 26973086 [T/C] NM_021912,NM_000814 GABRB3,GABRB3 Silent,Silent exm-rs3212335 15 27012141 [T/C] NM_021912,NM_000814 GABRB3,GABRB3 Silent,Silent exm1142893 15 27182361 [A/G] NM_000810,NM_001165037 GABRA5,GABRA5 EXON Missense_V204I,Missense_V204I exm1142919 15 27193184 [T/C] NM_000810,NM_001165037 GABRA5,GABRA5 EXON Missense_S398L,Missense_S398L exm1142920 15 27193195 [T/G] NM_000810,NM_001165037 GABRA5,GABRA5 EXON Missense_S402A,Missense_S402A exm1142937 15 27222234 [A/G] NM_001270873,NM_033223 GABRG3,GABRG3 EXON Missense_V47M,Missense_V47M exm-rs1432133 15 27228346 [A/G] NM_001270873,NM_033223 GABRG3,GABRG3 Silent,Silent exm2272215 15 27415802 [T/G] NM_001270873,NM_033223 GABRG3,GABRG3 Silent,Silent exm2260410 15 27694075 [A/G] NM_001270873,NM_033223 GABRG3,GABRG3 Silent,Silent exm1142967 15 27725918 [A/G] NM_001270873,NM_033223 GABRG3,GABRG3 EXON Missense_V233M,Missense_V233M exm1142973 15 27772767 [A/G] NM_033223 GABRG3 EXON Missense_T352A exm1142976 15 27773100 [A/G] NM_033223 GABRG3 EXON Missense_R362G exm1142979 15 27777774 [G/C] NM_033223 GABRG3 EXON Missense_P384R exm1142986 15 27777896 [A/G] NM_033223 GABRG3 EXON Missense_K425E exm-rs715467 15 27799223 [T/C] exm2267752 15 27812011 [A/G] exm-rs1871017 15 27890491 [T/G] exm-rs17565841 15 27997247 [A/G] exm1142992 15 28000551 [T/C] NM_000275 OCA2 EXON Missense_V834M exm1142998 15 28090178 [T/C] NM_000275 OCA2 EXON Missense_A787T exm1143019 15 28116379 [A/G] NM_000275 OCA2 EXON Missense_I722T exm1143042 15 28197037 [T/C] NM_000275 OCA2 EXON Missense_H615R exm1143047 15 28200361 [T/A] NM_000275 OCA2 EXON Missense_R595S exm1143051 15 28202756 [A/G] NM_000275 OCA2 EXON Missense_R588W exm1143057 15 28202830 [A/G] NM_000275 OCA2 EXON Missense_P563L exm1143058 15 28202839 [T/C] NM_000275 OCA2 EXON Missense_R560H exm1143061 15 28211841 [A/G] NM_000275 OCA2 EXON Missense_I544T exm1143063 15 28211880 [T/C] NM_000275 OCA2 EXON Missense_Y531C exm1143067 15 28211916 [A/G] NM_000275 OCA2 EXON Missense_V519A exm1143070 15 28211944 [T/C] NM_000275 OCA2 EXON Missense_A510T exm1143072 15 28211953 [T/C] NM_000275 OCA2 EXON Missense_G507R exm1143074 15 28228529 [T/C] NM_000275 OCA2 EXON Missense_N489D exm1143075 15 28228553 [T/C] NM_000275 OCA2 EXON Missense_A481T exm1825976 15 28230210 [T/C] NM_000275 OCA2 EXON Missense_R455K exm1143084 15 28230211 [T/C] NM_000275 OCA2 EXON Missense_R455G exm1143086 15 28230247 [T/C] NM_000275 OCA2 EXON Missense_V443I exm1143088 15 28230254 [G/C] NM_000275 OCA2 EXON Missense_L440F exm1143095 15 28230318 [T/C] NM_000275 OCA2 EXON Missense_R419Q exm1143096 15 28230319 [A/G] NM_000275 OCA2 EXON Missense_R419W exm1143100 15 28231761 [A/G] NM_000275 OCA2 EXON Missense_T404M exm1143102 15 28231771 [A/G] NM_000275 OCA2 EXON Missense_F401L exm1143104 15 28231780 [A/C] NM_000275 OCA2 EXON Missense_V398L exm1143110 15 28234769 [A/G] NM_000275 OCA2 EXON Missense_T387M exm1143112 15 28234791 [C/G] NM_000275 OCA2 EXON Missense_V380L exm1143117 15 28235729 [A/G] NM_000275 OCA2 EXON Missense_I370T exm1143118 15 28235735 [A/G] NM_000275 OCA2 EXON Missense_A368V exm1143121 15 28259941 [T/C] NM_000275 OCA2 EXON Missense_Y342C exm1143123 15 28259951 [A/C] NM_000275 OCA2 EXON Missense_A339S exm1143125 15 28259959 [A/G] NM_000275 OCA2 EXON Missense_A336V exm1143127 15 28259972 [T/G] NM_000275 OCA2 EXON Missense_T332P exm1143129 15 28259996 [A/G] NM_000275 OCA2 EXON Missense_R324C exm1143131 15 28260052 [T/C] NM_000275 OCA2 EXON Missense_R305Q exm1143132 15 28260053 [A/G] NM_000275 OCA2 EXON Missense_R305W exm1143142 15 28263554 [A/G] NM_000275 OCA2 EXON Missense_R266W exm1143144 15 28263599 [T/C] NM_000275 OCA2 EXON Missense_V251M exm1143145 15 28263623 [A/G] NM_000275 OCA2 EXON Missense_R243C exm2272216 15 28266235 [T/C] NM_000275 OCA2 Silent exm1826040 15 28267661 [A/G] NM_000275 OCA2 EXON Missense_P211L exm1143155 15 28267693 [T/A] NM_000275 OCA2 EXON Missense_Q200H exm1143166 15 28273167 [A/G] NM_000275 OCA2 EXON Missense_T122I exm2260411 15 28283441 [A/G] NM_000275 OCA2 Silent exm1143170 15 28326795 [A/T] NM_000275 OCA2 EXON Missense_R76W exm1143178 15 28326942 [T/C] NM_000275 OCA2 EXON Missense_G27R exm1143183 15 28326984 [T/C] NM_000275 OCA2 EXON Missense_G13S exm-rs4778138 15 28335820 [A/G] NM_000275 OCA2 Silent exm1143193 15 28356991 [T/G] NM_004667 HERC2 EXON Missense_D4808A exm1143196 15 28357019 [T/C] NM_004667 HERC2 EXON Missense_I4799V exm2252084 15 28358740 [A/G] NM_004667 HERC2 EXON Synonymous_T4666T exm2223096 15 28358775 [A/G] NM_004667 HERC2 EXON Missense_R4655C exm1143222 15 28358819 [T/C] NM_004667 HERC2 EXON Missense_H4640R exm2252085 15 28360632 [A/G] NM_004667 HERC2 EXON Synonymous_A4555A exm1143235 15 28360685 [T/C] NM_004667 HERC2 EXON Missense_V4538M exm-rs12913832 15 28365618 [A/G] NM_004667 HERC2 Silent exm1143264 15 28369364 [T/C] NM_004667 HERC2 EXON Missense_N4336S exm2252086 15 28370293 [A/G] NM_004667 HERC2 EXON Synonymous_D4283D exm1143278 15 28375354 [T/C] NM_004667 HERC2 EXON Missense_A4253T exm1143280 15 28375414 [T/A] NM_004667 HERC2 EXON Missense_S4233T exm1143310 15 28386775 [T/G] NM_004667 HERC2 EXON Synonymous_R3940R exm1143342 15 28389918 [A/G] NM_004667 HERC2 EXON Missense_R3681C exm1143356 15 28408274 [A/G] NM_004667 HERC2 EXON Missense_A3571V exm1143365 15 28412913 [A/G] NM_004667 HERC2 EXON Missense_S3492P exm1143368 15 28412927 [A/G] NM_004667 HERC2 EXON Missense_S3487L exm1143371 15 28412955 [T/C] NM_004667 HERC2 EXON Missense_A3478T exm1143373 15 28412963 [A/G] NM_004667 HERC2 EXON Missense_S3475F exm1143381 15 28413692 [A/G] NM_004667 HERC2 EXON Missense_P3425L exm1143388 15 28414800 [A/G] NM_004667 HERC2 EXON Synonymous_G3353G exm1143427 15 28422245 [A/C] NM_004667 HERC2 EXON Missense_A3095S exm1143433 15 28422644 [T/C] NM_004667 HERC2 EXON Missense_A3059T exm1826173 15 28427657 [A/G] NM_004667 HERC2 EXON Missense_L2943F exm1143448 15 28431808 [A/G] NM_004667 HERC2 EXON Missense_R2914C exm1826183 15 28436336 [T/C] NM_004667 HERC2 EXON Missense_I2836V exm1143455 15 28437160 [A/G] NM_004667 HERC2 EXON Missense_R2800C exm1826186 15 28437229 [T/C] NM_004667 HERC2 EXON Missense_M2777V exm1143463 15 28437288 [A/G] NM_004667 HERC2 EXON Missense_A2757V exm1143596 15 28473504 [A/G] NM_004667 HERC2 EXON Missense_P1775L exm1143660 15 28491095 [T/C] NM_004667 HERC2 EXON Missense_R1170Q exm2223105 15 28491962 [A/G] NM_004667 HERC2 EXON Missense_V1106A exm1143673 15 28493737 [A/G] NM_004667 HERC2 EXON Missense_Y1066H exm1143675 15 28493799 [T/C] NM_004667 HERC2 EXON Missense_R1045H exm1143676 15 28493800 [A/G] NM_004667 HERC2 EXON Missense_R1045C exm1143687 15 28501067 [T/G] NM_004667 HERC2 EXON Missense_D941A exm1143689 15 28501101 [T/C] NM_004667 HERC2 EXON Missense_M930V exm1143698 15 28501354 [A/G] NM_004667 HERC2 EXON Missense_A876V exm1143712 15 28502335 [T/C] NM_004667 HERC2 EXON Missense_M797V exm1143745 15 28511092 [T/C] NM_004667 HERC2 EXON Missense_A543T exm-rs916977 15 28513364 [T/C] NM_004667 HERC2 Silent exm1143766 15 28517361 [A/G] NM_004667 HERC2 EXON Synonymous_H361H exm1143772 15 28517432 [A/C] NM_004667 HERC2 EXON Missense_L338V exm1143790 15 28518112 [A/C] NM_004667 HERC2 EXON Missense_S280I exm1143794 15 28518136 [A/G] NM_004667 HERC2 EXON Missense_T272M exm1143809 15 28519592 [A/G] NM_004667 HERC2 EXON Synonymous_G215G exm1143812 15 28520072 [C/G] NM_004667 HERC2 EXON Missense_L208V exm1143816 15 28520146 [T/C] NM_004667 HERC2 EXON Missense_R183Q exm1143818 15 28525245 [T/C] NM_004667 HERC2 EXON Missense_G171S exm-rs1667394 15 28530182 [T/C] NM_004667 HERC2 Silent exm2264571 15 29276878 [A/C] NM_001130414,NM_005503 APBA2,APBA2 Silent,Silent exm1143882 15 29346121 [A/G] NM_001130414,NM_005503 APBA2,APBA2 EXON Missense_G12S,Missense_G12S exm1143883 15 29346151 [A/C] NM_001130414,NM_005503 APBA2,APBA2 EXON Missense_P22T,Missense_P22T exm1143884 15 29346181 [A/G] NM_001130414,NM_005503 APBA2,APBA2 EXON Missense_E32K,Missense_E32K exm1143892 15 29346257 [T/C] NM_001130414,NM_005503 APBA2,APBA2 EXON Missense_A57V,Missense_A57V exm1143904 15 29346497 [T/C] NM_001130414,NM_005503 APBA2,APBA2 EXON Missense_A137V,Missense_A137V exm1143906 15 29346518 [T/C] NM_001130414,NM_005503 APBA2,APBA2 EXON Missense_S144L,Missense_S144L exm1143916 15 29346590 [T/C] NM_001130414,NM_005503 APBA2,APBA2 EXON Missense_P168L,Missense_P168L exm1143924 15 29346719 [A/G] NM_001130414,NM_005503 APBA2,APBA2 EXON Missense_R211H,Missense_R211H exm1143926 15 29346728 [A/G] NM_001130414,NM_005503 APBA2,APBA2 EXON Missense_R214H,Missense_R214H exm1143935 15 29346972 [A/C] NM_001130414,NM_005503 APBA2,APBA2 EXON Missense_D295E,Missense_D295E exm1143940 15 29347037 [A/G] NM_001130414,NM_005503 APBA2,APBA2 EXON Missense_Q317R,Missense_Q317R exm1143973 15 29393886 [A/G] NM_001130414,NM_005503 APBA2,APBA2 EXON Missense_M463V,Missense_M475V exm1144004 15 29398999 [A/G] NM_001130414,NM_005503 APBA2,APBA2 EXON Missense_A620T,Missense_A632T exm1144007 15 29400531 [T/C] NM_001130414,NM_005503 APBA2,APBA2 EXON Missense_T647M,Missense_T659M exm1144019 15 29415549 [T/G] NM_015307 FAM189A1 EXON Missense_Q538P exm1144021 15 29415670 [C/G] NM_015307 FAM189A1 EXON Missense_E498Q exm1144026 15 29415846 [T/C] NM_015307 FAM189A1 EXON Missense_R439H exm1144028 15 29416890 [C/G] NM_015307 FAM189A1 EXON Missense_A435P exm1144029 15 29416901 [A/G] NM_015307 FAM189A1 EXON Missense_V431A exm1144031 15 29418512 [A/G] NM_015307 FAM189A1 EXON Missense_R396C exm1144032 15 29418520 [T/C] NM_015307 FAM189A1 EXON Missense_R393H exm1144041 15 29421028 [T/C] NM_015307 FAM189A1 EXON Missense_G323R exm1144042 15 29421054 [T/C] NM_015307 FAM189A1 EXON Missense_G314D exm1144043 15 29421059 [A/C] NM_015307 FAM189A1 EXON Missense_S312R exm2252091 15 29443474 [T/G] NM_015307 FAM189A1 Silent exm1144068 15 29561033 [T/C] NM_015307,NM_138704 FAM189A1,NDNL2 EXON Silent,Missense_A293T exm1144071 15 29561146 [T/A] NM_015307,NM_138704 FAM189A1,NDNL2 EXON Silent,Missense_N255I exm1144074 15 29561291 [T/C] NM_015307,NM_138704 FAM189A1,NDNL2 EXON Silent,Missense_V207I exm1144080 15 29561338 [T/C] NM_015307,NM_138704 FAM189A1,NDNL2 EXON Silent,Missense_N191S exm1144088 15 29561606 [T/C] NM_015307,NM_138704 FAM189A1,NDNL2 EXON Silent,Missense_K102E exm1144093 15 29561678 [G/C] NM_015307,NM_138704 FAM189A1,NDNL2 EXON Silent,Missense_G78R exm1144107 15 29561866 [A/G] NM_015307,NM_138704 FAM189A1,NDNL2 EXON Silent,Missense_A15V exm2272293 15 29565380 [T/C] NM_015307 FAM189A1 Silent exm2272219 15 29803473 [T/G] NM_015307 FAM189A1 Silent exm-rs1471225 15 29888396 [T/C] exm1144125 15 30000773 [T/C] NM_175610,NM_003257 TJP1,TJP1 EXON Missense_I1534V,Missense_I1614V exm2223119 15 30000799 [T/C] NM_175610,NM_003257 TJP1,TJP1 EXON Missense_N1525S,Missense_N1605S exm1144128 15 30000832 [C/G] NM_175610,NM_003257 TJP1,TJP1 EXON Missense_S1514C,Missense_S1594C exm1144131 15 30000883 [A/G] NM_175610,NM_003257 TJP1,TJP1 EXON Missense_S1497L,Missense_S1577L exm1144133 15 30000923 [A/G] NM_175610,NM_003257 TJP1,TJP1 EXON Missense_S1484P,Missense_S1564P exm1144148 15 30003151 [T/C] NM_175610,NM_003257 TJP1,TJP1 EXON Missense_Y1339C,Missense_Y1419C exm1144156 15 30008974 [A/G] NM_175610,NM_003257 TJP1,TJP1 EXON Missense_P1268L,Missense_P1348L exm1144157 15 30008977 [T/G] NM_175610,NM_003257 TJP1,TJP1 EXON Missense_D1267A,Missense_D1347A exm1144160 15 30008992 [T/C] NM_175610,NM_003257 TJP1,TJP1 EXON Missense_R1262Q,Missense_R1342Q exm1144180 15 30010841 [A/C] NM_175610,NM_003257 TJP1,TJP1 EXON Missense_G1089C,Missense_G1169C exm1144186 15 30011011 [T/C] NM_175610,NM_003257 TJP1,TJP1 EXON Missense_Q1032R,Missense_Q1112R exm1144188 15 30011038 [T/C] NM_175610,NM_003257 TJP1,TJP1 EXON Missense_R1023Q,Missense_R1103Q exm1144192 15 30011071 [A/G] NM_175610,NM_003257 TJP1,TJP1 EXON Missense_S1012L,Missense_S1092L exm1144195 15 30011099 [A/G] NM_175610,NM_003257 TJP1,TJP1 EXON Missense_R1003C,Missense_R1083C exm1144197 15 30011116 [T/C] NM_175610,NM_003257 TJP1,TJP1 EXON Missense_R997H,Missense_R1077H exm1144198 15 30011117 [T/G] NM_175610,NM_003257 TJP1,TJP1 EXON Missense_R997S,Missense_R1077S exm1826581 15 30011131 [T/C] NM_175610,NM_003257 TJP1,TJP1 EXON Missense_R992Q,Missense_R1072Q exm1144206 15 30011276 [T/C] NM_175610,NM_003257 TJP1,TJP1 EXON Missense_V944I,Missense_V1024I exm1144225 15 30012716 [A/G] NM_175610,NM_003257 TJP1,TJP1 EXON Missense_P870L,Missense_P870L exm1144235 15 30018627 [T/C] NM_175610,NM_003257 TJP1,TJP1 EXON Missense_I790V,Missense_I790V exm1144258 15 30025358 [C/G] NM_175610,NM_003257 TJP1,TJP1 EXON Missense_A559G,Missense_A559G exm1144260 15 30025403 [T/C] NM_175610,NM_003257 TJP1,TJP1 EXON Missense_R544H,Missense_R544H exm1144262 15 30025436 [T/C] NM_175610,NM_003257 TJP1,TJP1 EXON Missense_Y533C,Missense_Y533C exm1144270 15 30026582 [T/C] NM_175610,NM_003257 TJP1,TJP1 EXON Missense_N471S,Missense_N471S exm1826608 15 30053378 [A/T] NM_175610,NM_003257 TJP1,TJP1 EXON Missense_H325L,Missense_H325L exm1144286 15 30053418 [A/G] NM_175610,NM_003257 TJP1,TJP1 EXON Missense_R312W,Missense_R312W exm2223124 15 30053805 [A/G] NM_175610,NM_003257 TJP1,TJP1 EXON Synonymous_D287D,Synonymous_D287D exm1144296 15 30058616 [T/C] NM_175610,NM_003257 TJP1,TJP1 EXON Missense_N148D,Missense_N148D exm2272220 15 30297008 [T/C] exm2267821 15 30556183 [A/G] exm1144363 15 30919043 [T/G] NM_001039841 ARHGAP11B EXON Missense_V7G exm1144381 15 30927362 [A/G] NM_001039841 ARHGAP11B EXON Missense_E211K exm1144388 15 31196867 [A/G] NM_001146095,NM_001146094,NM_014967,NM_001146096 FAN1,FAN1,FAN1,FAN1 EXON Missense_M1V,Missense_M1V,Missense_M1V,Missense_M1V exm1144389 15 31196871 [T/C] NM_001146095,NM_001146094,NM_014967,NM_001146096 FAN1,FAN1,FAN1,FAN1 EXON Missense_M2T,Missense_M2T,Missense_M2T,Missense_M2T exm1144390 15 31196879 [A/G] NM_001146095,NM_001146094,NM_014967,NM_001146096 FAN1,FAN1,FAN1,FAN1 EXON Missense_G5R,Missense_G5R,Missense_G5R,Missense_G5R exm1144397 15 31197015 [T/G] NM_001146095,NM_001146094,NM_014967,NM_001146096 FAN1,FAN1,FAN1,FAN1 EXON Missense_M50R,Missense_M50R,Missense_M50R,Missense_M50R exm2223128 15 31197084 [A/C] NM_001146095,NM_001146094,NM_014967,NM_001146096 FAN1,FAN1,FAN1,FAN1 EXON Missense_D73A,Missense_D73A,Missense_D73A,Missense_D73A exm1144408 15 31197174 [A/C] NM_001146095,NM_001146094,NM_014967,NM_001146096 FAN1,FAN1,FAN1,FAN1 EXON Missense_P103Q,Missense_P103Q,Missense_P103Q,Missense_P103Q exm1144409 15 31197192 [T/C] NM_001146095,NM_001146094,NM_014967,NM_001146096 FAN1,FAN1,FAN1,FAN1 EXON Missense_L109S,Missense_L109S,Missense_L109S,Missense_L109S exm1144410 15 31197195 [T/C] NM_001146095,NM_001146094,NM_014967,NM_001146096 FAN1,FAN1,FAN1,FAN1 EXON Missense_T110I,Missense_T110I,Missense_T110I,Missense_T110I exm1826680 15 31197423 [A/C] NM_001146095,NM_001146094,NM_014967,NM_001146096 FAN1,FAN1,FAN1,FAN1 EXON Missense_S186Y,Missense_S186Y,Missense_S186Y,Missense_S186Y exm1144430 15 31197564 [A/G] NM_001146095,NM_001146094,NM_014967,NM_001146096 FAN1,FAN1,FAN1,FAN1 EXON Missense_G233E,Missense_G233E,Missense_G233E,Missense_G233E exm1144431 15 31197584 [A/G] NM_001146095,NM_001146094,NM_014967,NM_001146096 FAN1,FAN1,FAN1,FAN1 EXON Missense_E240K,Missense_E240K,Missense_E240K,Missense_E240K exm1144436 15 31197753 [A/G] NM_001146095,NM_001146094,NM_014967,NM_001146096 FAN1,FAN1,FAN1,FAN1 EXON Missense_R296H,Missense_R296H,Missense_R296H,Missense_R296H exm1144438 15 31197795 [C/G] NM_001146095,NM_001146094,NM_014967,NM_001146096 FAN1,FAN1,FAN1,FAN1 EXON Nonsense_S310X,Nonsense_S310X,Nonsense_S310X,Nonsense_S310X exm1826686 15 31197956 [A/C] NM_001146095,NM_001146094,NM_014967,NM_001146096 FAN1,FAN1,FAN1,FAN1 EXON Missense_N364H,Missense_N364H,Missense_N364H,Missense_N364H exm1144445 15 31197977 [A/G] NM_001146095,NM_001146094,NM_014967,NM_001146096 FAN1,FAN1,FAN1,FAN1 EXON Missense_G371S,Missense_G371S,Missense_G371S,Missense_G371S exm1144448 15 31198043 [A/G] NM_001146095,NM_001146094,NM_014967,NM_001146096 FAN1,FAN1,FAN1,FAN1 EXON Missense_M393V,Missense_M393V,Missense_M393V,Missense_M393V exm1144449 15 31198044 [T/C] NM_001146095,NM_001146094,NM_014967,NM_001146096 FAN1,FAN1,FAN1,FAN1 EXON Missense_M393T,Missense_M393T,Missense_M393T,Missense_M393T exm1144450 15 31198050 [T/C] NM_001146095,NM_001146094,NM_014967,NM_001146096 FAN1,FAN1,FAN1,FAN1 EXON Missense_L395P,Missense_L395P,Missense_L395P,Missense_L395P exm1144455 15 31200396 [A/G] NM_001146095,NM_001146094,NM_014967,NM_001146096 FAN1,FAN1,FAN1,FAN1 EXON Missense_E437G,Missense_E437G,Missense_E437G,Missense_E437G exm1144458 15 31200419 [T/C] NM_001146095,NM_001146094,NM_014967,NM_001146096 FAN1,FAN1,FAN1,FAN1 EXON Missense_P445S,Missense_P445S,Missense_P445S,Missense_P445S exm1144465 15 31202961 [A/G] NM_001146095,NM_001146094,NM_014967,NM_001146096 FAN1,FAN1,FAN1,FAN1 EXON Missense_R507H,Missense_R507H,Missense_R507H,Missense_R507H exm1144485 15 31212765 [T/C] NM_014967 FAN1 EXON Missense_P654L exm1144487 15 31212777 [A/G] NM_014967 FAN1 EXON Missense_R658Q exm1144494 15 31214513 [T/C] NM_014967 FAN1 EXON Nonsense_R710X exm1144498 15 31214557 [A/G] NM_014967 FAN1 EXON Synonymous_P724P exm1144504 15 31217358 [T/C] NM_014967 FAN1 EXON Missense_A734V exm1144511 15 31218016 [T/C] NM_014967 FAN1 EXON Missense_P788S exm1144513 15 31218035 [A/G] NM_014967 FAN1 EXON Missense_K794R exm1144517 15 31218067 [A/G] NM_014967 FAN1 EXON Missense_A805T exm1144533 15 31221493 [T/C] NM_014967 FAN1 EXON Missense_P894S exm1144536 15 31221574 [T/C] NM_014967 FAN1 EXON Missense_R921C exm1144545 15 31222833 [T/C] NM_014967 FAN1 EXON Missense_P959S exm1144554 15 31229463 [A/G] NM_014967 FAN1 Silent exm1144557 15 31233731 [T/C] NM_014967,NM_017762 FAN1,MTMR10 EXON Silent,Missense_K759R exm1144568 15 31233917 [T/C] NM_014967,NM_017762 FAN1,MTMR10 EXON Silent,Missense_R697Q exm1826739 15 31233935 [A/G] NM_014967,NM_017762 FAN1,MTMR10 EXON Silent,Missense_V691A exm1144577 15 31234008 [T/C] NM_014967,NM_017762 FAN1,MTMR10 EXON Silent,Missense_E667K exm1144579 15 31234064 [T/C] NM_014967,NM_017762 FAN1,MTMR10 EXON Silent,Missense_R648H exm1144580 15 31234086 [C/G] NM_014967,NM_017762 FAN1,MTMR10 EXON Silent,Missense_L641V exm1144589 15 31234207 [T/C] NM_014967,NM_017762 FAN1,MTMR10 EXON Silent,Synonymous_E600E exm2252096 15 31234207 [T/C] NM_014967,NM_017762 FAN1,MTMR10 EXON Silent,Synonymous_E600E exm1144592 15 31235100 [T/C] NM_014967,NM_017762 FAN1,MTMR10 EXON Silent,Missense_R575Q exm1144595 15 31235179 [A/G] NM_014967,NM_017762 FAN1,MTMR10 EXON Silent,Missense_R549C exm1144611 15 31246972 [T/C] NM_017762 MTMR10 EXON Missense_V354I exm1144619 15 31251154 [C/G] NM_017762 MTMR10 EXON Missense_L283V exm1144622 15 31253106 [T/C] NM_017762 MTMR10 EXON Missense_E246K exm1144628 15 31260201 [T/C] NM_017762 MTMR10 EXON Missense_I163V exm1144630 15 31266616 [A/C] NM_017762 MTMR10 EXON Missense_Q125H exm1144642 15 31283024 [T/C] NM_017762 MTMR10 EXON Missense_N26S exm1144647 15 31283667 [A/G] NM_017762 MTMR10 EXON Missense_L15F exm1144659 15 31294159 [T/C] NM_001252024,NM_001252020,NM_002420 TRPM1,TRPM1,TRPM1 EXON Missense_V1582M,Missense_V1599M,Missense_V1560M exm1144662 15 31294222 [A/G] NM_001252024,NM_001252020,NM_002420 TRPM1,TRPM1,TRPM1 EXON Missense_P1561S,Missense_P1578S,Missense_P1539S exm1144665 15 31294258 [G/C] NM_001252024,NM_001252020,NM_002420 TRPM1,TRPM1,TRPM1 EXON Missense_D1549H,Missense_D1566H,Missense_D1527H exm1144668 15 31294343 [A/T] NM_001252024,NM_001252020,NM_002420 TRPM1,TRPM1,TRPM1 EXON Missense_H1520Q,Missense_H1537Q,Missense_H1498Q exm1144669 15 31294401 [T/C] NM_001252024,NM_001252020,NM_002420 TRPM1,TRPM1,TRPM1 EXON Missense_R1501H,Missense_R1518H,Missense_R1479H exm1144670 15 31294404 [A/G] NM_001252024,NM_001252020,NM_002420 TRPM1,TRPM1,TRPM1 EXON Missense_T1500M,Missense_T1517M,Missense_T1478M exm1144672 15 31294428 [T/C] NM_001252024,NM_001252020,NM_002420 TRPM1,TRPM1,TRPM1 EXON Nonsense_W1492X,Nonsense_W1509X,Nonsense_W1470X exm1144680 15 31294554 [A/G] NM_001252024,NM_001252020,NM_002420 TRPM1,TRPM1,TRPM1 EXON Missense_T1450M,Missense_T1467M,Missense_T1428M exm1144682 15 31294573 [A/G] NM_001252024,NM_001252020,NM_002420 TRPM1,TRPM1,TRPM1 EXON Missense_R1444C,Missense_R1461C,Missense_R1422C exm1144687 15 31294702 [T/G] NM_001252024,NM_001252020,NM_002420 TRPM1,TRPM1,TRPM1 EXON Missense_P1401T,Missense_P1418T,Missense_P1379T exm1144689 15 31294714 [A/C] NM_001252024,NM_001252020,NM_002420 TRPM1,TRPM1,TRPM1 EXON Nonsense_E1397X,Nonsense_E1414X,Nonsense_E1375X exm1144690 15 31294896 [A/G] NM_001252024,NM_001252020,NM_002420 TRPM1,TRPM1,TRPM1 EXON Missense_T1336M,Missense_T1353M,Missense_T1314M exm1144692 15 31294923 [T/C] NM_001252024,NM_001252020,NM_002420 TRPM1,TRPM1,TRPM1 EXON Missense_R1327H,Missense_R1344H,Missense_R1305H exm1144693 15 31294933 [A/G] NM_001252024,NM_001252020,NM_002420 TRPM1,TRPM1,TRPM1 EXON Missense_C1324R,Missense_C1341R,Missense_C1302R exm1144695 15 31294965 [A/G] NM_001252024,NM_001252020,NM_002420 TRPM1,TRPM1,TRPM1 EXON Missense_T1313M,Missense_T1330M,Missense_T1291M exm1144696 15 31294984 [T/C] NM_001252024,NM_001252020,NM_002420 TRPM1,TRPM1,TRPM1 EXON Missense_E1307K,Missense_E1324K,Missense_E1285K exm2274734 15 31294996 [G/C] NM_001252024,NM_001252020,NM_002420 TRPM1,TRPM1,TRPM1 EXON Missense_E1303Q,Missense_E1320Q,Missense_E1281Q exm1826789 15 31295101 [A/G] NM_001252024,NM_001252020,NM_002420 TRPM1,TRPM1,TRPM1 EXON Missense_R1268W,Missense_R1285W,Missense_R1246W exm1826790 15 31295126 [A/G] NM_001252024,NM_001252020,NM_002420 TRPM1,TRPM1,TRPM1 EXON Synonymous_I1259I,Synonymous_I1276I,Synonymous_I1237I exm1144707 15 31295151 [T/G] NM_001252024,NM_001252020,NM_002420 TRPM1,TRPM1,TRPM1 EXON Missense_N1251T,Missense_N1268T,Missense_N1229T exm1144717 15 31318404 [G/C] NM_001252024,NM_001252020,NM_002420 TRPM1,TRPM1,TRPM1 EXON Missense_F1189L,Missense_F1206L,Missense_F1167L exm1144718 15 31318422 [G/C] NM_001252024,NM_001252020,NM_002420 TRPM1,TRPM1,TRPM1 EXON Missense_Q1183H,Missense_Q1200H,Missense_Q1161H exm1144722 15 31319119 [T/C] NM_001252024,NM_001252020,NM_002420 TRPM1,TRPM1,TRPM1 EXON Synonymous_L1165L,Synonymous_L1182L,Synonymous_L1143L exm1144736 15 31320641 [A/G] NM_001252024,NM_001252020,NM_002420 TRPM1,TRPM1,TRPM1 EXON Missense_R1063W,Missense_R1080W,Missense_R1041W exm1144739 15 31323186 [A/G] NM_001252024,NM_001252020,NM_002420 TRPM1,TRPM1,TRPM1 EXON Missense_L1043F,Missense_L1060F,Missense_L1021F exm1144749 15 31323360 [T/G] NM_001252024,NM_001252020,NM_002420 TRPM1,TRPM1,TRPM1 EXON Missense_M985L,Missense_M1002L,Missense_M963L exm2274736 15 31325069 [A/C] NM_001252024,NM_001252020,NM_002420 TRPM1,TRPM1,TRPM1 EXON Missense_D925E,Missense_D942E,Missense_D903E exm2274737 15 31327796 [T/C] NM_001252024,NM_001252020,NM_002420 TRPM1,TRPM1,TRPM1 EXON Missense_I885V,Missense_I902V,Missense_I863V exm1144765 15 31330000 [T/C] NM_001252024,NM_001252020,NM_002420 TRPM1,TRPM1,TRPM1 EXON Missense_E829K,Missense_E846K,Missense_E807K exm1144780 15 31332352 [G/C] NM_001252024,NM_001252020,NM_002420 TRPM1,TRPM1,TRPM1 EXON Missense_R762T,Missense_R779T,Missense_R740T exm1144786 15 31332488 [C/G] NM_001252024,NM_001252020,NM_002420 TRPM1,TRPM1,TRPM1 EXON Missense_A717P,Missense_A734P,Missense_A695P exm2223135 15 31334322 [T/C] NM_001252024,NM_001252020,NM_002420 TRPM1,TRPM1,TRPM1 EXON Nonsense_W640X,Nonsense_W657X,Nonsense_W618X exm1144797 15 31334362 [T/C] NM_001252024,NM_001252020,NM_002420 TRPM1,TRPM1,TRPM1 EXON Missense_V627M,Missense_V644M,Missense_V605M exm1826840 15 31339385 [T/C] NM_001252024,NM_001252020,NM_002420 TRPM1,TRPM1,TRPM1 EXON Missense_G565R,Missense_G582R,Missense_G543R exm2252098 15 31339434 [A/G] NM_001252024,NM_001252020,NM_002420 TRPM1,TRPM1,TRPM1 EXON Synonymous_Y548Y,Synonymous_Y565Y,Synonymous_Y526Y exm1144825 15 31341712 [A/C] NM_001252024,NM_001252020,NM_002420 TRPM1,TRPM1,TRPM1 EXON Missense_V480L,Missense_V497L,Missense_V458L exm1144833 15 31342707 [T/C] NM_001252024,NM_001252020,NM_002420 TRPM1,TRPM1,TRPM1 EXON Missense_G448R,Missense_G465R,Missense_G426R exm1144835 15 31342754 [G/C] NM_001252024,NM_001252020,NM_002420 TRPM1,TRPM1,TRPM1 EXON Missense_S432T,Missense_S449T,Missense_S410T exm1144841 15 31352749 [T/G] NM_001252024,NM_001252020,NM_002420 TRPM1,TRPM1,TRPM1 EXON Missense_P421T,Missense_P438T,Missense_P399T exm1144842 15 31352755 [A/G] NM_001252024,NM_001252020,NM_002420 TRPM1,TRPM1,TRPM1 EXON Missense_H419Y,Missense_H436Y,Missense_H397Y exm1144848 15 31354782 [A/G] NM_001252024,NM_001252020,NM_002420 TRPM1,TRPM1,TRPM1 EXON Synonymous_L363L,Synonymous_L380L,Synonymous_L341L exm1144851 15 31355321 [T/C] NM_001252024,NM_001252020,NM_002420 TRPM1,TRPM1,TRPM1 EXON Missense_G322E,Missense_G339E,Missense_G300E exm1144858 15 31355463 [T/C] NM_001252024,NM_001252020,NM_002420 TRPM1,TRPM1,TRPM1 EXON Missense_V275M,Missense_V292M,Missense_V253M exm1144880 15 31359333 [T/C] NM_001252024,NM_001252020,NM_002420 TRPM1,TRPM1,TRPM1 EXON Missense_R184Q,Missense_R201Q,Missense_R162Q exm1144881 15 31359348 [A/G] NM_001252024,NM_001252020,NM_002420 TRPM1,TRPM1,TRPM1 EXON Missense_S179F,Missense_S196F,Missense_S157F exm2252099 15 31359377 [A/G] NM_001252024,NM_001252020,NM_002420 TRPM1,TRPM1,TRPM1 EXON Synonymous_H169H,Synonymous_H186H,Synonymous_H147H exm1144893 15 31360294 [T/C] NM_001252024,NM_001252020,NM_002420 TRPM1,TRPM1,TRPM1 EXON Missense_Y94C,Missense_Y111C,Missense_Y72C exm1144900 15 31362352 [T/C] NM_001252024,NM_001252020,NM_002420,NM_001252030 TRPM1,TRPM1,TRPM1,TRPM1 EXON Missense_S54N,Missense_S71N,Missense_S32N,Missense_S32N exm1144902 15 31369123 [A/G] NM_001252024,NM_001252020,NM_002420,NM_001252030 TRPM1,TRPM1,TRPM1,TRPM1 EXON Missense_M23T,Missense_M40T,Missense_M1T,Missense_M1T exm2252100 15 31376365 [A/G] NM_001252024,NM_001252020,NM_002420,NM_001252030 TRPM1,TRPM1,TRPM1,TRPM1 Silent,Silent,Silent,Silent exm2252101 15 31492357 [T/C] exm2272294 15 31614741 [T/C] exm2275347 15 31776558 [A/C] NM_130901 OTUD7A EXON Nonsense_E574X exm1144970 15 31776814 [A/C] NM_130901 OTUD7A EXON Missense_N488K exm1144972 15 31776837 [C/G] NM_130901 OTUD7A EXON Missense_V481L exm1144999 15 31818630 [T/C] NM_130901 OTUD7A EXON Missense_R265Q exm1145002 15 31819424 [T/C] NM_130901 OTUD7A EXON Missense_K247R exm-rs2125623 15 31829707 [T/C] NM_130901 OTUD7A Silent exm1145013 15 31851250 [T/C] NM_130901 OTUD7A EXON Missense_V158M exm1826928 15 31851362 [A/G] NM_130901 OTUD7A EXON Synonymous_H120H exm2260416 15 32347464 [T/C] NR_046324,NM_000746,NM_001190455 CHRNA7,CHRNA7,CHRNA7 Silent,Silent,Silent exm2272222 15 32396457 [T/C] NR_046324,NM_000746,NM_001190455 CHRNA7,CHRNA7,CHRNA7 Silent,Silent,Silent exm1145045 15 32404084 [A/G] NR_046324,NM_000746,NM_001190455 CHRNA7,CHRNA7,CHRNA7 EXON Silent,Missense_I112V,Missense_I141V exm2223141 15 32908419 [T/G] NM_199357,NM_014783 ARHGAP11A,ARHGAP11A EXON Missense_D3Y,Missense_D3Y exm2252104 15 32916403 [A/G] NM_199357,NM_014783 ARHGAP11A,ARHGAP11A EXON Synonymous_L109L,Synonymous_L109L exm1145116 15 32917689 [T/G] NM_199357,NM_014783 ARHGAP11A,ARHGAP11A EXON Synonymous_G239G,Synonymous_G239G exm1145117 15 32917691 [A/G] NM_199357,NM_014783 ARHGAP11A,ARHGAP11A EXON Missense_R240H,Missense_R240H exm1145133 15 32921843 [A/G] NM_199357,NM_014783 ARHGAP11A,ARHGAP11A EXON Missense_T329A,Missense_T329A exm2277076 15 32921881 [T/G] NM_199357,NM_014783 ARHGAP11A,ARHGAP11A EXON Missense_K341N,Missense_K341N exm1145149 15 32925302 [A/G] NM_199357,NM_014783 ARHGAP11A,ARHGAP11A EXON Missense_V410I,Missense_V410I exm1145152 15 32926162 [T/C] NM_199357,NM_014783 ARHGAP11A,ARHGAP11A EXON Missense_S422P,Missense_S422P exm1145153 15 32926168 [A/G] NM_199357,NM_014783 ARHGAP11A,ARHGAP11A EXON Missense_K424E,Missense_K424E exm2223144 15 32928092 [A/G] NM_199357,NM_014783 ARHGAP11A,ARHGAP11A EXON Missense_V487I,Missense_V487I exm1145163 15 32928132 [A/G] NM_199357,NM_014783 ARHGAP11A,ARHGAP11A EXON Missense_Y500C,Silent exm1145169 15 32928635 [T/C] NM_014783 ARHGAP11A EXON Missense_I554T exm1827016 15 32928808 [A/G] NM_014783 ARHGAP11A EXON Missense_A612T exm1145172 15 32928853 [A/G] NM_014783 ARHGAP11A EXON Missense_V627I exm2223146 15 32929081 [A/G] NM_014783 ARHGAP11A EXON Missense_I703V exm1145175 15 32929104 [T/G] NM_014783 ARHGAP11A EXON Missense_D710E exm1145185 15 32929312 [A/G] NM_014783 ARHGAP11A EXON Missense_M780V exm1145196 15 32929514 [A/C] NM_014783 ARHGAP11A EXON Missense_S847Y exm1145205 15 32929624 [A/G] NM_014783 ARHGAP11A EXON Missense_I884V exm1145208 15 32929643 [A/C] NM_014783 ARHGAP11A EXON Missense_D890A exm1145210 15 32929673 [G/C] NM_014783 ARHGAP11A EXON Missense_P900R exm1145219 15 32929835 [T/C] NM_014783 ARHGAP11A EXON Missense_S954F exm1145230 15 32935813 [T/C] NM_001144757,NM_003020 SCG5,SCG5 EXON Missense_S7F,Missense_S7F exm1145232 15 32935899 [T/C] NM_001144757,NM_003020 SCG5,SCG5 EXON Missense_S36P,Missense_S36P exm1145234 15 32935989 [T/A] NM_001144757,NM_003020 SCG5,SCG5 EXON Missense_M66L,Missense_M66L exm1145243 15 32976839 [T/C] NM_001144757,NM_003020 SCG5,SCG5 EXON Missense_P153L,Missense_P152L exm1145246 15 32976863 [T/G] NM_001144757,NM_003020 SCG5,SCG5 EXON Missense_G161V,Missense_G160V exm2252105 15 32988717 [T/C] NM_001144757,NM_003020 SCG5,SCG5 EXON Synonymous_S182S,Synonymous_S181S exm-rs4779584 15 32994756 [T/C] exm1145262 15 33022968 [A/G] NM_001191322,NM_001191323,NM_013372 GREM1,GREM1,GREM1 EXON Silent,Missense_K26R,Missense_K26R exm1145275 15 33023340 [T/C] NM_001191322,NM_001191323,NM_013372 GREM1,GREM1,GREM1 EXON Missense_T80I,Missense_T109I,Missense_T150I exm-rs1258763 15 33050423 [T/C] exm1145283 15 33091015 [A/G] NM_001103184 FMN1 EXON Missense_S1151P exm1145287 15 33091084 [T/C] NM_001103184 FMN1 EXON Missense_V1128M exm1145288 15 33091097 [G/C] NM_001103184 FMN1 EXON Missense_I1123M exm1145291 15 33096488 [T/C] NM_001103184 FMN1 EXON Missense_Q1102R exm2272223 15 33106236 [T/G] NM_001103184 FMN1 Silent exm1145299 15 33149288 [T/C] NM_001103184 FMN1 EXON Missense_V1063M exm1145302 15 33180430 [A/G] NM_001103184 FMN1 EXON Nonsense_Q1037X exm1145306 15 33191049 [A/G] NM_001103184 FMN1 EXON Missense_R1011C exm1145319 15 33194125 [A/G] NM_001103184 FMN1 EXON Missense_T942M exm2276365 15 33194233 [A/T] NM_001103184 FMN1 EXON Missense_H906L exm1145325 15 33200768 [G/C] NM_001103184 FMN1 EXON Missense_E877D exm1145327 15 33202692 [T/C] NM_001103184 FMN1 EXON Missense_A868T exm1145330 15 33218440 [T/C] NM_001103184 FMN1 EXON Missense_K831R exm1145338 15 33256445 [A/G] NM_001103184 FMN1 EXON Missense_P778S exm1145344 15 33260973 [T/C] NM_001103184 FMN1 EXON Missense_E754K exm1145346 15 33260993 [T/C] NM_001103184 FMN1 EXON Missense_C747Y exm1145360 15 33261173 [A/G] NM_001103184 FMN1 EXON Missense_P687L exm1145363 15 33261185 [A/G] NM_001103184 FMN1 EXON Missense_P683L exm1145368 15 33261263 [A/G] NM_001103184 FMN1 EXON Missense_P657L exm1145372 15 33261288 [A/G] NM_001103184 FMN1 EXON Missense_P649S exm1145374 15 33261293 [A/G] NM_001103184 FMN1 EXON Missense_P647L exm1145377 15 33261341 [A/G] NM_001103184 FMN1 EXON Missense_L631P exm1145379 15 33261366 [T/C] NM_001103184 FMN1 EXON Missense_D623N exm1145382 15 33261440 [T/C] NM_001103184 FMN1 EXON Missense_K598R exm1145383 15 33261472 [G/C] NM_001103184 FMN1 EXON Missense_E587D exm1145384 15 33261528 [T/C] NM_001103184 FMN1 EXON Missense_D569N exm1145388 15 33261588 [T/C] NM_001103184 FMN1 EXON Missense_E549K exm1145390 15 33261623 [A/G] NM_001103184 FMN1 EXON Missense_A537V exm1145396 15 33300258 [A/G] NM_001103184 FMN1 EXON Missense_L504S exm1145402 15 33357262 [A/G] NM_001103184 FMN1 EXON Missense_L463P exm1145403 15 33358712 [A/G] NM_001103184 FMN1 EXON Synonymous_S458S exm1145404 15 33358717 [T/G] NM_001103184 FMN1 EXON Missense_K457Q exm1145407 15 33358768 [A/C] NM_001103184 FMN1 EXON Missense_A440S exm1145418 15 33358858 [A/T] NM_001103184 FMN1 EXON Missense_I410F exm1145425 15 33358992 [A/G] NM_001103184 FMN1 EXON Missense_S365L exm1145429 15 33359146 [A/C] NM_001103184 FMN1 EXON Missense_V314L exm1145433 15 33359199 [A/G] NM_001103184 FMN1 EXON Missense_T296M exm1145434 15 33359206 [T/C] NM_001103184 FMN1 EXON Missense_T294A exm1145435 15 33359208 [T/C] NM_001103184 FMN1 EXON Missense_E293G exm1145440 15 33359370 [T/C] NM_001103184 FMN1 EXON Missense_G239E exm1145443 15 33359418 [T/C] NM_001103184 FMN1 EXON Missense_G223D exm1145450 15 33359559 [A/G] NM_001103184 FMN1 EXON Missense_P176L exm1145451 15 33359574 [A/C] NM_001103184 FMN1 EXON Missense_G171V exm1145453 15 33359580 [C/G] NM_001103184 FMN1 EXON Missense_P169R exm1145460 15 33359673 [T/C] NM_001103184 FMN1 EXON Missense_R138H exm1145466 15 33359745 [A/G] NM_001103184 FMN1 EXON Missense_T114I exm1145467 15 33359755 [T/C] NM_001103184 FMN1 EXON Missense_E111K exm1145474 15 33359893 [T/C] NM_001103184 FMN1 EXON Missense_V65M exm2252107 15 33359894 [A/G] NM_001103184 FMN1 EXON Synonymous_D64D exm1145477 15 33359934 [T/C] NM_001103184 FMN1 EXON Missense_E51G exm1145478 15 33359950 [G/C] NM_001103184 FMN1 EXON Missense_E46Q exm1145479 15 33359961 [A/G] NM_001103184 FMN1 EXON Missense_T42M exm1145480 15 33359976 [T/G] NM_001103184 FMN1 EXON Missense_S37Y exm2260417 15 33458893 [T/C] exm2272224 15 33677731 [T/C] NM_001243996,NM_001036 RYR3,RYR3 Silent,Silent exm1145512 15 33825530 [A/G] NM_001243996,NM_001036 RYR3,RYR3 EXON Missense_T125A,Missense_T125A exm1145536 15 33855072 [A/G] NM_001243996,NM_001036 RYR3,RYR3 EXON Missense_R336Q,Missense_R336Q exm1145537 15 33855138 [T/C] NM_001243996,NM_001036 RYR3,RYR3 EXON Missense_I358T,Missense_I358T exm2252109 15 33855175 [T/C] NM_001243996,NM_001036 RYR3,RYR3 EXON Synonymous_D370D,Synonymous_D370D exm1145538 15 33855175 [T/C] NM_001243996,NM_001036 RYR3,RYR3 EXON Synonymous_D370D,Synonymous_D370D exm1145539 15 33855211 [A/G] NM_001243996,NM_001036 RYR3,RYR3 EXON Synonymous_K382K,Synonymous_K382K exm1145542 15 33872177 [T/C] NM_001243996,NM_001036 RYR3,RYR3 EXON Synonymous_S423S,Synonymous_S423S exm1145543 15 33872185 [A/G] NM_001243996,NM_001036 RYR3,RYR3 EXON Missense_N426S,Missense_N426S exm1145546 15 33872203 [T/G] NM_001243996,NM_001036 RYR3,RYR3 EXON Missense_I432S,Missense_I432S exm1145549 15 33872281 [A/G] NM_001243996,NM_001036 RYR3,RYR3 EXON Missense_R458Q,Missense_R458Q exm1145551 15 33872321 [C/G] NM_001243996,NM_001036 RYR3,RYR3 EXON Missense_N471K,Missense_N471K exm1145552 15 33873751 [A/G] NM_001243996,NM_001036 RYR3,RYR3 EXON Missense_V494I,Missense_V494I exm1145568 15 33893659 [A/G] NM_001243996,NM_001036 RYR3,RYR3 EXON Missense_V610I,Missense_V610I exm1145569 15 33893671 [A/G] NM_001243996,NM_001036 RYR3,RYR3 EXON Missense_A614T,Missense_A614T exm1145582 15 33895503 [A/G] NM_001243996,NM_001036 RYR3,RYR3 EXON Missense_G701E,Missense_G701E exm1145586 15 33905410 [A/G] NM_001243996,NM_001036 RYR3,RYR3 EXON Missense_I731V,Missense_I731V exm1145597 15 33916136 [A/G] NM_001243996,NM_001036 RYR3,RYR3 EXON Missense_R829H,Missense_R829H exm1145608 15 33922154 [A/G] NM_001243996,NM_001036 RYR3,RYR3 EXON Missense_N898S,Missense_N898S exm1145609 15 33922156 [A/G] NM_001243996,NM_001036 RYR3,RYR3 EXON Missense_K899E,Missense_K899E exm1145611 15 33922231 [A/G] NM_001243996,NM_001036 RYR3,RYR3 EXON Missense_T924A,Missense_T924A exm1145623 15 33926883 [T/C] NM_001243996,NM_001036 RYR3,RYR3 EXON Missense_R1042C,Missense_R1042C exm1145625 15 33927835 [A/G] NM_001243996,NM_001036 RYR3,RYR3 EXON Missense_V1066I,Missense_V1066I exm1145646 15 33936692 [A/G] NM_001243996,NM_001036 RYR3,RYR3 EXON Missense_N1246S,Missense_N1246S exm1145648 15 33938601 [T/C] NM_001243996,NM_001036 RYR3,RYR3 EXON Missense_T1272M,Missense_T1272M exm1145660 15 33944944 [A/G] NM_001243996,NM_001036 RYR3,RYR3 EXON Missense_V1390I,Missense_V1390I exm1145666 15 33945072 [T/C] NM_001243996,NM_001036 RYR3,RYR3 EXON Synonymous_G1432G,Synonymous_G1432G exm2252110 15 33945072 [T/C] NM_001243996,NM_001036 RYR3,RYR3 EXON Synonymous_G1432G,Synonymous_G1432G exm1827246 15 33945073 [A/G] NM_001243996,NM_001036 RYR3,RYR3 EXON Missense_T1433A,Missense_T1433A exm1145679 15 33952476 [A/G] NM_001243996,NM_001036 RYR3,RYR3 EXON Missense_V1492I,Missense_V1492I exm1145680 15 33952511 [A/G] NM_001243996,NM_001036 RYR3,RYR3 EXON Missense_M1503I,Missense_M1503I exm1145682 15 33952549 [A/G] NM_001243996,NM_001036 RYR3,RYR3 EXON Missense_S1516N,Missense_S1516N exm1145694 15 33954396 [A/G] NM_001243996,NM_001036 RYR3,RYR3 EXON Missense_M1555I,Missense_M1555I exm1145708 15 33954652 [T/C] NM_001243996,NM_001036 RYR3,RYR3 EXON Missense_R1641C,Missense_R1641C exm1145712 15 33954764 [A/G] NM_001243996,NM_001036 RYR3,RYR3 EXON Missense_D1678G,Missense_D1678G exm1145720 15 33955030 [A/G] NM_001243996,NM_001036 RYR3,RYR3 EXON Missense_E1767K,Missense_E1767K exm1145723 15 33955088 [A/G] NM_001243996,NM_001036 RYR3,RYR3 EXON Missense_G1786D,Missense_G1786D exm1145725 15 33955124 [A/G] NM_001243996,NM_001036 RYR3,RYR3 EXON Missense_R1798Q,Missense_R1798Q exm1145733 15 33955843 [A/C] NM_001243996,NM_001036 RYR3,RYR3 EXON Missense_K1842Q,Missense_K1842Q exm1145739 15 33962696 [A/T] NM_001243996,NM_001036 RYR3,RYR3 EXON Missense_K1933N,Missense_K1933N exm1827273 15 33988536 [T/C] NM_001243996,NM_001036 RYR3,RYR3 EXON Missense_I1993T,Missense_I1993T exm1145772 15 33993241 [A/G] NM_001243996,NM_001036 RYR3,RYR3 EXON Missense_N2148S,Missense_N2148S exm1145779 15 33999253 [A/C] NM_001243996,NM_001036 RYR3,RYR3 EXON Missense_N2206T,Missense_N2206T exm1145783 15 34014942 [A/G] NM_001243996,NM_001036 RYR3,RYR3 EXON Missense_V2216I,Missense_V2216I exm1145785 15 34014994 [A/G] NM_001243996,NM_001036 RYR3,RYR3 EXON Missense_R2233Q,Missense_R2233Q exm1145789 15 34015060 [T/C] NM_001243996,NM_001036 RYR3,RYR3 EXON Missense_A2255V,Missense_A2255V exm1145792 15 34016274 [A/G] NM_001243996,NM_001036 RYR3,RYR3 EXON Missense_G2270E,Missense_G2270E exm1145796 15 34016300 [A/G] NM_001243996,NM_001036 RYR3,RYR3 EXON Missense_V2279M,Missense_V2279M exm1145797 15 34016315 [A/G] NM_001243996,NM_001036 RYR3,RYR3 EXON Missense_A2284T,Missense_A2284T exm1145800 15 34018594 [A/G] NM_001243996,NM_001036 RYR3,RYR3 EXON Missense_Q2307R,Missense_Q2307R exm1145814 15 34023720 [A/G] NM_001243996,NM_001036 RYR3,RYR3 EXON Missense_I2417V,Missense_I2417V exm1145819 15 34023838 [A/G] NM_001243996,NM_001036 RYR3,RYR3 EXON Missense_R2456H,Missense_R2456H exm1145823 15 34028501 [A/G] NM_001243996,NM_001036 RYR3,RYR3 EXON Missense_N2497S,Missense_N2497S exm1145825 15 34030658 [T/C] NM_001243996,NM_001036 RYR3,RYR3 EXON Missense_T2508M,Missense_T2508M exm1145839 15 34032157 [T/C] NM_001243996,NM_001036 RYR3,RYR3 EXON Missense_A2594V,Missense_A2594V exm1145840 15 34032188 [C/G] NM_001243996,NM_001036 RYR3,RYR3 EXON Missense_N2604K,Missense_N2604K exm1145848 15 34038351 [T/C] NM_001243996,NM_001036 RYR3,RYR3 EXON Missense_T2661M,Missense_T2661M exm1145855 15 34040428 [T/G] NM_001243996,NM_001036 RYR3,RYR3 EXON Missense_N2701K,Missense_N2701K exm1827316 15 34040442 [T/G] NM_001243996,NM_001036 RYR3,RYR3 EXON Missense_S2706I,Missense_S2706I exm-rs12440440 15 34041896 [A/G] NM_001243996,NM_001036 RYR3,RYR3 Silent,Silent exm1145862 15 34042216 [A/G] NM_001243996,NM_001036 RYR3,RYR3 EXON Missense_I2746V,Missense_I2746V exm1145874 15 34048533 [A/G] NM_001243996,NM_001036 RYR3,RYR3 EXON Missense_E2848K,Missense_E2848K exm1145875 15 34048546 [A/G] NM_001243996,NM_001036 RYR3,RYR3 EXON Missense_R2852H,Missense_R2852H exm1145876 15 34049733 [A/T] NM_001243996,NM_001036 RYR3,RYR3 EXON Missense_S2881T,Missense_S2881T exm1827333 15 34064218 [A/G] NM_001243996,NM_001036 RYR3,RYR3 EXON Missense_K2972E,Missense_K2972E exm1145885 15 34064260 [A/G] NM_001243996,NM_001036 RYR3,RYR3 EXON Missense_V2986I,Missense_V2986I exm1145888 15 34064302 [A/G] NM_001243996,NM_001036 RYR3,RYR3 EXON Missense_I3000V,Missense_I3000V exm1145890 15 34064356 [A/C] NM_001243996,NM_001036 RYR3,RYR3 EXON Missense_L3018I,Missense_L3018I exm1827340 15 34072417 [T/G] NM_001243996,NM_001036 RYR3,RYR3 EXON Missense_R3048L,Missense_R3048L exm1145893 15 34072528 [G/C] NM_001243996,NM_001036 RYR3,RYR3 EXON Missense_P3085R,Missense_P3085R exm1145896 15 34077902 [A/G] NM_001243996,NM_001036 RYR3,RYR3 EXON Missense_D3103G,Missense_D3103G exm1145898 15 34077949 [A/G] NM_001243996,NM_001036 RYR3,RYR3 EXON Missense_E3119K,Missense_E3119K exm1145913 15 34080515 [T/C] NM_001243996,NM_001036 RYR3,RYR3 EXON Missense_T3229M,Missense_T3229M exm1145914 15 34080544 [A/G] NM_001243996,NM_001036 RYR3,RYR3 EXON Missense_D3239N,Missense_D3239N exm1145925 15 34080628 [T/C] NM_001243996,NM_001036 RYR3,RYR3 EXON Missense_P3267S,Missense_P3267S exm1145932 15 34093017 [T/C] NM_001243996,NM_001036 RYR3,RYR3 EXON Missense_R3293C,Missense_R3293C exm1145934 15 34094101 [T/C] NM_001243996,NM_001036 RYR3,RYR3 EXON Missense_I3317T,Missense_I3317T exm1827358 15 34102850 [T/C] NM_001243996,NM_001036 RYR3,RYR3 EXON Synonymous_H3394H,Synonymous_H3399H exm1145959 15 34105698 [A/G] NM_001243996,NM_001036 RYR3,RYR3 EXON Missense_V3469I,Missense_V3474I exm2223163 15 34109114 [A/C] NM_001243996,NM_001036 RYR3,RYR3 EXON Missense_E3513D,Missense_E3518D exm1145974 15 34112976 [A/C] NM_001243996,NM_001036 RYR3,RYR3 EXON Missense_D3588A,Missense_D3593A exm1145987 15 34113729 [A/G] NM_001243996,NM_001036 RYR3,RYR3 EXON Missense_M3636V,Missense_M3641V exm1146000 15 34119450 [A/G] NM_001243996,NM_001036 RYR3,RYR3 EXON Missense_V3761I,Missense_V3766I exm1146008 15 34127220 [A/G] NM_001243996,NM_001036 RYR3,RYR3 EXON Missense_A3834T,Missense_A3839T exm1146010 15 34127241 [A/G] NM_001243996,NM_001036 RYR3,RYR3 EXON Missense_V3841I,Missense_V3846I exm1146011 15 34127250 [A/C] NM_001243996,NM_001036 RYR3,RYR3 EXON Missense_N3844H,Missense_N3849H exm1146019 15 34130020 [A/G] NM_001243996,NM_001036 RYR3,RYR3 EXON Missense_A3942T,Missense_A3947T exm1146023 15 34130057 [T/C] NM_001243996,NM_001036 RYR3,RYR3 EXON Missense_I3954T,Missense_I3959T exm1146041 15 34130548 [A/G] NM_001243996,NM_001036 RYR3,RYR3 EXON Missense_V4118M,Missense_V4123M exm1146045 15 34130644 [A/G] NM_001243996,NM_001036 RYR3,RYR3 EXON Missense_D4150N,Missense_D4155N exm1146059 15 34131014 [T/C] NM_001243996,NM_001036 RYR3,RYR3 EXON Missense_M4273T,Missense_M4278T exm1146070 15 34133047 [A/G] NM_001243996,NM_001036 RYR3,RYR3 EXON Missense_N4329D,Missense_N4334D exm1146072 15 34134072 [T/G] NM_001243996,NM_001036 RYR3,RYR3 EXON Missense_D4344Y,Missense_D4349Y exm1146074 15 34134154 [A/G] NM_001243996,NM_001036 RYR3,RYR3 EXON Missense_R4371Q,Missense_R4376Q exm1827424 15 34134195 [A/G] NM_001243996,NM_001036 RYR3,RYR3 EXON Missense_N4385D,Missense_N4390D exm1146102 15 34146983 [T/C] NM_001243996,NM_001036 RYR3,RYR3 EXON Missense_A4621V,Missense_A4626V exm1146108 15 34150083 [A/G] NM_001243996,NM_001036 RYR3,RYR3 EXON Missense_E4699K,Missense_E4704K exm1146135 15 34158888 [G/C] NM_020371 AVEN EXON Missense_P339A exm1146136 15 34158896 [T/A] NM_020371 AVEN EXON Missense_N336I exm1827481 15 34159749 [T/G] NM_020371 AVEN EXON Missense_T307K exm1146142 15 34159782 [A/G] NM_020371 AVEN EXON Missense_I296T exm1146149 15 34159894 [A/T] NM_020371 AVEN EXON Missense_N259Y exm1146153 15 34159941 [T/G] NM_020371 AVEN EXON Missense_E243A exm1146154 15 34159962 [A/C] NM_020371 AVEN EXON Missense_G236V exm1146155 15 34159969 [A/C] NM_020371 AVEN EXON Missense_G234W exm1146156 15 34159986 [T/C] NM_020371 AVEN EXON Missense_Q228R exm1146157 15 34159987 [A/G] NM_020371 AVEN EXON Nonsense_Q228X exm1146160 15 34160031 [T/G] NM_020371 AVEN EXON Missense_Q213P exm1146162 15 34163147 [T/C] NM_020371 AVEN EXON Missense_E201K exm1146172 15 34168130 [T/A] NM_020371 AVEN EXON Missense_K171I exm2272225 15 34276989 [T/G] NM_020371,NM_012125 AVEN,CHRM5 Silent,Silent exm1146174 15 34295234 [T/C] NM_020371,NM_012125 AVEN,CHRM5 EXON Synonymous_A148A,Silent exm1146186 15 34354964 [T/C] NM_012125 CHRM5 EXON Missense_P16S exm1146187 15 34354965 [T/C] NM_012125 CHRM5 EXON Missense_P16L exm1146191 15 34355075 [T/A] NM_012125 CHRM5 EXON Missense_I53F exm1146196 15 34355263 [T/C] NM_012125 CHRM5 EXON Synonymous_N115N exm2252113 15 34355263 [T/C] NM_012125 CHRM5 EXON Synonymous_N115N exm1146200 15 34355417 [T/C] NM_012125 CHRM5 EXON Missense_L167F exm1146216 15 34355796 [A/G] NM_012125 CHRM5 EXON Missense_N293S exm1146220 15 34355864 [A/G] NM_012125 CHRM5 EXON Missense_A316T exm1146221 15 34355903 [T/G] NM_012125 CHRM5 EXON Missense_G329C exm1146225 15 34355976 [A/G] NM_012125 CHRM5 EXON Missense_K353R exm1146228 15 34356048 [T/G] NM_012125 CHRM5 EXON Missense_V377G exm1146231 15 34356063 [A/G] NM_012125 CHRM5 EXON Missense_R382Q exm1146234 15 34356083 [A/G] NM_012125 CHRM5 EXON Missense_G389R exm1146237 15 34356152 [A/G] NM_012125 CHRM5 EXON Missense_E412K exm1146241 15 34356201 [A/C] NM_012125 CHRM5 EXON Missense_K428T exm1146255 15 34356485 [T/A] NM_012125 CHRM5 EXON Missense_L523M exm1146260 15 34380331 [T/A] NM_020154 EMC7 EXON Missense_M167L exm1146268 15 34388147 [A/G] NM_020154 EMC7 EXON Missense_A102V exm1146290 15 34394926 [T/C] NM_152595 PGBD4 EXON Missense_T65I exm1146292 15 34395000 [A/G] NM_152595 PGBD4 EXON Missense_G90S exm1146298 15 34395256 [T/C] NM_152595 PGBD4 EXON Missense_M175T exm1146313 15 34395667 [A/G] NM_152595 PGBD4 EXON Missense_R312H exm1146317 15 34395723 [G/C] NM_152595 PGBD4 EXON Missense_D331H exm1146329 15 34396065 [T/C] NM_152595 PGBD4 EXON Missense_R445C exm1146335 15 34396318 [A/C] NM_152595 PGBD4 EXON Missense_P529Q exm1146352 15 34439049 [T/C] NM_024713 KATNBL1 EXON Missense_Y234C exm1146385 15 34517756 [A/G] NM_016454 EMC4 EXON Missense_S36G exm1146399 15 34520687 [T/C] NM_016454 EMC4 EXON Missense_I138T exm1827605 15 34537536 [A/C] NM_005135,NM_001042494,NM_001042497,NM_001042495,NM_001042496,NM_133647 SLC12A6,SLC12A6,SLC12A6,SLC12A6,SLC12A6,SLC12A6 EXON Missense_E580D,Missense_E572D,Missense_E616D,Missense_E572D,Missense_E622D,Missense_E631D exm1146474 15 34543180 [G/C] NM_005135,NM_001042494,NM_001042497,NM_001042495,NM_001042496,NM_133647 SLC12A6,SLC12A6,SLC12A6,SLC12A6,SLC12A6,SLC12A6 EXON Missense_S420T,Missense_S412T,Missense_S456T,Missense_S412T,Missense_S462T,Missense_S471T exm1146475 15 34543234 [A/G] NM_005135,NM_001042494,NM_001042497,NM_001042495,NM_001042496,NM_133647 SLC12A6,SLC12A6,SLC12A6,SLC12A6,SLC12A6,SLC12A6 EXON Missense_P402L,Missense_P394L,Missense_P438L,Missense_P394L,Missense_P444L,Missense_P453L exm1146479 15 34544454 [T/C] NM_005135,NM_001042494,NM_001042497,NM_001042495,NM_001042496,NM_133647 SLC12A6,SLC12A6,SLC12A6,SLC12A6,SLC12A6,SLC12A6 EXON Missense_N366S,Missense_N358S,Missense_N402S,Missense_N358S,Missense_N408S,Missense_N417S exm1146494 15 34546655 [A/G] NM_005135,NM_001042494,NM_001042497,NM_001042495,NM_001042496,NM_133647 SLC12A6,SLC12A6,SLC12A6,SLC12A6,SLC12A6,SLC12A6 EXON Missense_R287C,Missense_R279C,Missense_R323C,Missense_R279C,Missense_R329C,Missense_R338C exm1827625 15 34546703 [T/C] NM_005135,NM_001042494,NM_001042497,NM_001042495,NM_001042496,NM_133647 SLC12A6,SLC12A6,SLC12A6,SLC12A6,SLC12A6,SLC12A6 EXON Missense_G271S,Missense_G263S,Missense_G307S,Missense_G263S,Missense_G313S,Missense_G322S exm1146501 15 34546766 [T/C] NM_005135,NM_001042494,NM_001042497,NM_001042495,NM_001042496,NM_133647 SLC12A6,SLC12A6,SLC12A6,SLC12A6,SLC12A6,SLC12A6 EXON Missense_I250V,Missense_I242V,Missense_I286V,Missense_I242V,Missense_I292V,Missense_I301V exm1146504 15 34547592 [A/G] NM_005135,NM_001042494,NM_001042497,NM_001042495,NM_001042496,NM_133647 SLC12A6,SLC12A6,SLC12A6,SLC12A6,SLC12A6,SLC12A6 EXON Synonymous_A198A,Synonymous_A190A,Synonymous_A234A,Synonymous_A190A,Synonymous_A240A,Synonymous_A249A exm1146507 15 34549866 [T/C] NM_005135,NM_001042494,NM_001042497,NM_001042495,NM_001042496,NM_133647 SLC12A6,SLC12A6,SLC12A6,SLC12A6,SLC12A6,SLC12A6 EXON Missense_I172V,Missense_I164V,Missense_I208V,Missense_I164V,Missense_I214V,Missense_I223V exm1146521 15 34553220 [A/G] NM_005135,NM_001042494,NM_001042497,NM_001042495,NM_001042496,NM_133647 SLC12A6,SLC12A6,SLC12A6,SLC12A6,SLC12A6,SLC12A6 EXON Synonymous_D55D,Synonymous_D47D,Synonymous_D91D,Synonymous_D47D,Synonymous_D97D,Synonymous_D106D exm1146523 15 34567569 [T/G] NM_005135,NM_001042494,NM_001042497,NM_001042495,NM_001042496,NM_133647 SLC12A6,SLC12A6,SLC12A6,SLC12A6,SLC12A6,SLC12A6 EXON Missense_T47K,Missense_T39K,Silent,Missense_T39K,Missense_T89K,Missense_T98K exm1146526 15 34610786 [A/G] NM_005135,NM_001042494,NM_001042497,NM_001042495,NM_001042496,NM_133647 SLC12A6,SLC12A6,SLC12A6,SLC12A6,SLC12A6,SLC12A6 EXON Missense_R32W,Silent,Silent,Silent,Silent,Silent exm1146534 15 34628623 [T/C] NM_001042494,NM_001042497,NM_001042495,NM_001042496,NM_133647 SLC12A6,SLC12A6,SLC12A6,SLC12A6,SLC12A6 EXON Missense_D28N,Missense_D87N,Missense_D28N,Missense_D78N,Missense_D87N exm1146537 15 34628662 [G/C] NM_001042494,NM_001042497,NM_001042495,NM_001042496,NM_133647 SLC12A6,SLC12A6,SLC12A6,SLC12A6,SLC12A6 EXON Missense_A15P,Missense_A74P,Missense_A15P,Missense_A65P,Missense_A74P exm1146566 15 34640188 [T/C] NM_175741 C15orf55 EXON Missense_P12L exm1146568 15 34640218 [T/C] NM_175741 C15orf55 EXON Missense_P22L exm1146578 15 34640500 [T/C] NM_175741 C15orf55 EXON Missense_S116L exm1146590 15 34640761 [A/G] NM_175741 C15orf55 EXON Missense_R203H exm1146594 15 34640826 [T/C] NM_175741 C15orf55 EXON Missense_R225W exm1146599 15 34643024 [T/C] NM_175741 C15orf55 EXON Missense_M282T exm1146602 15 34646044 [T/C] NM_175741 C15orf55 EXON Missense_P321L exm1146609 15 34646719 [T/C] NM_175741 C15orf55 EXON Missense_P355L exm1146611 15 34646755 [T/C] NM_175741 C15orf55 EXON Missense_A367V exm1146612 15 34646769 [A/G] NM_175741 C15orf55 EXON Missense_V372I exm1146619 15 34646867 [A/G] NM_175741 C15orf55 EXON Missense_M404I exm1146624 15 34647300 [C/G] NM_175741 C15orf55 EXON Missense_E453Q exm1146625 15 34647313 [A/G] NM_175741 C15orf55 EXON Missense_Q457R exm1146627 15 34647701 [T/C] NM_175741 C15orf55 EXON Nonsense_R470X exm1146634 15 34647819 [A/G] NM_175741 C15orf55 EXON Missense_R509Q exm2223172 15 34647839 [C/G] NM_175741 C15orf55 EXON Missense_G516R exm1146638 15 34647869 [A/G] NM_175741 C15orf55 EXON Missense_V526I exm1146639 15 34647875 [T/G] NM_175741 C15orf55 EXON Missense_S528A exm1146640 15 34647972 [T/C] NM_175741 C15orf55 EXON Missense_P560L exm1146654 15 34648319 [G/C] NM_175741 C15orf55 EXON Missense_P676A exm1146669 15 34648635 [T/C] NM_175741 C15orf55 EXON Missense_T781M exm1146671 15 34648647 [T/A] NM_175741 C15orf55 EXON Missense_V785E exm1146677 15 34648736 [T/C] NM_175741 C15orf55 EXON Missense_P815S exm1146681 15 34648935 [T/G] NM_175741 C15orf55 EXON Missense_S881I exm1146689 15 34649064 [A/G] NM_175741 C15orf55 EXON Missense_N924S exm1146693 15 34649211 [A/C] NM_175741 C15orf55 EXON Missense_T973N exm1146694 15 34649247 [C/G] NM_175741 C15orf55 EXON Missense_P985R exm1146699 15 34649336 [A/G] NM_175741 C15orf55 EXON Missense_E1015K exm1827689 15 34649432 [T/G] NM_175741 C15orf55 EXON Missense_G1047C exm1146706 15 34649616 [A/G] NM_175741 C15orf55 EXON Missense_R1108Q exm1146708 15 34649631 [A/G] NM_175741 C15orf55 EXON Missense_R1113H exm1146709 15 34649639 [T/C] NM_175741 C15orf55 EXON Missense_R1116W exm1146712 15 34649657 [A/G] NM_175741 C15orf55 EXON Missense_T1122A exm1146713 15 34649658 [T/C] NM_175741 C15orf55 EXON Missense_T1122M exm1146717 15 34651374 [T/G] NM_153613 LPCAT4 EXON Missense_A510D exm1146719 15 34651404 [C/G] NM_153613 LPCAT4 EXON Missense_P500R exm1146722 15 34651449 [G/C] NM_153613 LPCAT4 EXON Missense_T485S exm1146732 15 34651895 [T/C] NM_153613 LPCAT4 EXON Missense_G432S exm1146734 15 34651912 [T/C] NM_153613 LPCAT4 EXON Missense_R426H exm1146744 15 34653684 [T/C] NM_153613 LPCAT4 EXON Missense_M354V exm1146759 15 34655021 [A/G] NM_153613 LPCAT4 EXON Missense_L255F exm1146774 15 34657334 [A/C] NM_153613 LPCAT4 EXON Missense_R118L exm-rs7164838 15 34967574 [A/G] exm-rs634990 15 35006073 [T/C] exm1146865 15 35045134 [T/C] NM_020660 GJD2 EXON Missense_V171I exm1146868 15 35045250 [C/G] NM_020660 GJD2 EXON Missense_G132A exm2260419 15 35112710 [A/G] exm1146914 15 35149009 [A/G] NM_014691 AQR EXON Missense_P1481L exm1146916 15 35149048 [A/G] NM_014691 AQR EXON Missense_P1468L exm1146918 15 35149108 [A/G] NM_014691 AQR EXON Missense_P1448L exm1146920 15 35149163 [T/C] NM_014691 AQR EXON Missense_T1430A exm1146945 15 35166929 [T/C] NM_014691 AQR EXON Missense_R1125H exm1146961 15 35176841 [T/C] NM_014691 AQR EXON Missense_H971R exm1827820 15 35189761 [A/G] NM_014691 AQR EXON Missense_R797C exm1146982 15 35189862 [A/T] NM_014691 AQR EXON Missense_D763V exm1147005 15 35207365 [C/G] NM_014691 AQR EXON Missense_P453R exm1147013 15 35212616 [T/C] NM_014691 AQR EXON Missense_V380M exm1147029 15 35233157 [T/G] NM_014691 AQR EXON Missense_K195T exm1147031 15 35234262 [T/C] NM_014691 AQR EXON Missense_S164N exm1147045 15 35236574 [A/G] NM_014691 AQR EXON Missense_A129V exm1147106 15 35274384 [T/G] NM_014106 ZNF770 EXON Missense_N418H exm1147108 15 35274507 [T/A] NM_014106 ZNF770 EXON Missense_S377C exm1147117 15 35274867 [A/G] NM_014106 ZNF770 EXON Missense_R257C exm1147118 15 35274892 [T/G] NM_014106 ZNF770 EXON Missense_L248F exm1147130 15 35275178 [A/C] NM_014106 ZNF770 EXON Missense_M153R exm1147136 15 35275254 [T/C] NM_014106 ZNF770 EXON Missense_G128R exm1147144 15 35275615 [T/A] NM_014106 ZNF770 EXON Missense_L7F exm2264556 15 35397370 [A/C] exm1147150 15 35664364 [A/G] NM_080650 ATPBD4 EXON Missense_I264T exm1147170 15 35674106 [C/G] NM_080650 ATPBD4 EXON Missense_K193N exm2260420 15 35740582 [A/G] NM_080650 ATPBD4 Silent exm1147178 15 35746966 [T/C] NM_080650 ATPBD4 EXON Missense_R123H exm1147183 15 35814407 [T/C] NM_080650,NM_001141972 ATPBD4,ATPBD4 EXON Silent,Missense_V129M exm1147190 15 35830651 [T/C] NM_080650,NM_001141972 ATPBD4,ATPBD4 EXON Missense_D46N,Missense_D46N exm1147192 15 35834615 [T/C] NM_080650,NM_001141972 ATPBD4,ATPBD4 EXON Synonymous_Q39Q,Synonymous_Q39Q exm1147193 15 35834650 [T/C] NM_080650,NM_001141972 ATPBD4,ATPBD4 EXON Missense_V28I,Missense_V28I exm1147195 15 35834667 [C/G] NM_080650,NM_001141972 ATPBD4,ATPBD4 EXON Missense_A22G,Missense_A22G exm-rs9920881 15 35961254 [T/C] NR_038251 ATPBD4-AS1 Silent exm2252120 15 36139024 [A/G] NR_038251 ATPBD4-AS1 Silent exm-rs16962252 15 36290481 [T/C] exm-rs4923705 15 36293605 [A/G] exm-rs10520045 15 36313965 [T/G] exm2264572 15 36635324 [A/C] exm2274738 15 36936489 [C/G] NM_001130010,NM_032499 C15orf41,C15orf41 EXON Missense_A38P,Silent exm1147209 15 36946303 [G/C] NM_001130010,NM_032499 C15orf41,C15orf41 EXON Missense_L73V,Silent exm1147210 15 36950058 [T/G] NM_001130010,NM_032499 C15orf41,C15orf41 EXON Missense_A100S,Missense_A2S exm1147211 15 36950061 [T/C] NM_001130010,NM_032499 C15orf41,C15orf41 EXON Missense_R101W,Missense_R3W exm-rs1037439 15 37026565 [A/G] NM_001130010,NM_032499 C15orf41,C15orf41 Silent,Silent exm2272298 15 37084043 [T/G] NM_001130010,NM_032499 C15orf41,C15orf41 Silent,Silent exm1828044 15 37100525 [A/G] NM_001130010,NM_032499,NR_027320 C15orf41,C15orf41,CSNK1A1P1 EXON Synonymous_R239R,Synonymous_R141R,Silent exm1828046 15 37100620 [A/C] NM_001130010,NM_032499,NR_027320 C15orf41,C15orf41,CSNK1A1P1 EXON Missense_T271K,Missense_T173K,Silent exm1147243 15 37184393 [A/G] NM_170677,NM_170676,NM_172315,NM_170674,NM_170675,NM_002399,NM_172316,NR_051953,NM_001220482 MEIS2,MEIS2,MEIS2,MEIS2,MEIS2,MEIS2,MEIS2,MEIS2,MEIS2 EXON Silent,Missense_M465T,Silent,Silent,Missense_M472T,Silent,Silent,Silent,Missense_M465T exm1147248 15 37184496 [T/C] NM_170677,NM_170676,NM_172315,NM_170674,NM_170675,NM_002399,NM_172316,NR_051953,NM_001220482 MEIS2,MEIS2,MEIS2,MEIS2,MEIS2,MEIS2,MEIS2,MEIS2,MEIS2 EXON Silent,Missense_M431V,Silent,Silent,Missense_M438V,Silent,Silent,Silent,Missense_M431V exm1147252 15 37184627 [T/C] NM_170677,NM_170676,NM_172315,NM_170674,NM_170675,NM_002399,NM_172316,NR_051953,NM_001220482 MEIS2,MEIS2,MEIS2,MEIS2,MEIS2,MEIS2,MEIS2,MEIS2,MEIS2 EXON Silent,Missense_Q387R,Silent,Silent,Missense_Q394R,Silent,Silent,Silent,Missense_Q387R exm2267757 15 37254835 [A/G] NM_170677,NM_170676,NM_172315,NM_170674,NM_170675,NM_002399,NM_172316,NR_051953,NM_001220482 MEIS2,MEIS2,MEIS2,MEIS2,MEIS2,MEIS2,MEIS2,MEIS2,MEIS2 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm-rs12102256 15 37290293 [T/G] NM_170677,NM_170676,NM_172315,NM_170674,NM_170675,NM_002399,NM_172316,NR_051953,NM_001220482 MEIS2,MEIS2,MEIS2,MEIS2,MEIS2,MEIS2,MEIS2,MEIS2,MEIS2 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm-rs8041675 15 37342602 [T/C] NM_170677,NM_170676,NM_172315,NM_170674,NM_170675,NM_002399,NM_172316,NR_051953,NM_001220482 MEIS2,MEIS2,MEIS2,MEIS2,MEIS2,MEIS2,MEIS2,MEIS2,MEIS2 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm-rs1568679 15 37349802 [T/C] NM_170677,NM_170676,NM_172315,NM_170674,NM_170675,NM_002399,NM_172316,NR_051953,NM_001220482 MEIS2,MEIS2,MEIS2,MEIS2,MEIS2,MEIS2,MEIS2,MEIS2,MEIS2 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm2272228 15 37561268 [T/C] exm2272229 15 38118873 [T/C] exm1147296 15 38228620 [T/G] NM_152453 TMCO5A EXON Missense_Q32H exm1147300 15 38229074 [A/G] NM_152453 TMCO5A EXON Missense_R56Q exm1147301 15 38229113 [A/G] NM_152453 TMCO5A EXON Missense_R69H exm1147313 15 38233381 [A/C] NM_152453 TMCO5A EXON Missense_A140E exm1147314 15 38233383 [T/C] NM_152453 TMCO5A EXON Missense_C141R exm1147331 15 38235552 [A/G] NM_152453 TMCO5A EXON Missense_V194M exm2223181 15 38235562 [A/G] NM_152453 TMCO5A EXON Missense_N197S exm1147333 15 38235583 [C/G] NM_152453 TMCO5A EXON Missense_T204S exm1147334 15 38239858 [A/G] NM_152453 TMCO5A EXON Missense_G210D exm1147338 15 38243331 [A/G] NM_152453 TMCO5A EXON Missense_V255I exm1147345 15 38243431 [A/G] NM_152453 TMCO5A EXON Missense_H288R exm2260423 15 38297066 [T/C] exm2267758 15 38360209 [A/G] exm1147347 15 38545412 [T/A] NM_152594 SPRED1 EXON Missense_D9V exm1147348 15 38545416 [A/C] NM_152594 SPRED1 EXON Missense_N10K exm1147352 15 38591665 [A/G] NM_152594 SPRED1 EXON Missense_V42I exm1147370 15 38641627 [T/C] NM_152594 SPRED1 EXON Missense_T196I exm1147381 15 38643417 [A/G] NM_152594 SPRED1 EXON Missense_C296Y exm1147382 15 38643456 [T/C] NM_152594 SPRED1 EXON Missense_V309A exm1147385 15 38643474 [T/C] NM_152594 SPRED1 EXON Missense_P315L exm1147396 15 38746364 [A/T] NM_001042429,NM_173611 FAM98B,FAM98B EXON Missense_M1K,Missense_M1K exm1147398 15 38746370 [A/G] NM_001042429,NM_173611 FAM98B,FAM98B EXON Missense_G3E,Missense_G3E exm1147408 15 38756338 [A/G] NM_001042429,NM_173611 FAM98B,FAM98B EXON Missense_I59M,Missense_I59M exm1147415 15 38757603 [A/G] NM_001042429,NM_173611 FAM98B,FAM98B EXON Synonymous_L117L,Synonymous_L117L exm-rs11073328 15 38764843 [T/C] NM_001042429,NM_173611 FAM98B,FAM98B Silent,Silent exm1147428 15 38773593 [A/C] NM_001042429,NM_173611 FAM98B,FAM98B EXON Missense_D277A,Missense_D277A exm1147480 15 38786854 [G/C] NM_005739,NM_001128602 RASGRP1,RASGRP1 EXON Missense_R663P,Missense_R628P exm1147481 15 38786861 [A/C] NM_005739,NM_001128602 RASGRP1,RASGRP1 EXON Missense_S661A,Missense_S626A exm1147497 15 38794591 [A/T] NM_005739,NM_001128602 RASGRP1,RASGRP1 EXON Missense_D487V,Missense_D452V exm1147498 15 38794598 [T/C] NM_005739,NM_001128602 RASGRP1,RASGRP1 EXON Missense_D485N,Missense_D450N exm1147524 15 38808543 [T/C] NM_005739,NM_001128602 RASGRP1,RASGRP1 EXON Missense_R177H,Missense_R177H exm2223183 15 38810521 [A/G] NM_005739,NM_001128602 RASGRP1,RASGRP1 EXON Missense_H165Y,Missense_H165Y exm1147527 15 38810524 [A/T] NM_005739,NM_001128602 RASGRP1,RASGRP1 EXON Missense_L164I,Missense_L164I exm1147531 15 38811551 [A/C] NM_005739,NM_001128602 RASGRP1,RASGRP1 EXON Missense_K116N,Missense_K116N exm-rs8035957 15 38838264 [T/C] NM_005739,NM_001128602 RASGRP1,RASGRP1 Silent,Silent exm1147537 15 38852099 [T/C] NM_005739,NM_001128602 RASGRP1,RASGRP1 EXON Missense_R48Q,Missense_R48Q exm2267759 15 38872179 [A/G] exm-rs12912251 15 38986368 [T/G] exm1147547 15 38988815 [G/C] NM_207444 C15orf53 EXON Missense_L3V exm1147549 15 38988861 [A/G] NM_207444 C15orf53 EXON Missense_R18Q exm2276366 15 38990447 [A/C] NM_207444 C15orf53 EXON Missense_P81T exm1828220 15 38990554 [T/A] NM_207444 C15orf53 EXON Missense_R116S exm1147560 15 38990598 [A/G] NM_207444 C15orf53 EXON Missense_R131H exm-rs12899449 15 38995491 [A/G] exm-rs2624265 15 39148649 [T/C] exm2267760 15 39176900 [A/G] exm2267824 15 39444966 [A/G] exm-rs2852078 15 39488869 [T/C] exm1147570 15 39544380 [A/C] NM_207445 C15orf54 EXON Missense_P15H exm1147577 15 39544463 [A/G] NM_207445 C15orf54 EXON Missense_I43V exm1147581 15 39544521 [T/C] NM_207445 C15orf54 EXON Missense_P62L exm1147583 15 39544565 [A/G] NM_207445 C15orf54 EXON Missense_E77K exm1828246 15 39544775 [A/C] NM_207445 C15orf54 EXON Missense_R147S exm1147596 15 39544788 [A/C] NM_207445 C15orf54 EXON Missense_H151P exm2267761 15 39687127 [A/G] exm2267825 15 39844315 [A/G] exm1147607 15 39874396 [T/G] NM_003246 THBS1 EXON Missense_S24A exm1147613 15 39874480 [T/C] NM_003246 THBS1 EXON Missense_P52S exm1147616 15 39874576 [A/G] NM_003246 THBS1 EXON Missense_A84T exm1147632 15 39874909 [A/G] NM_003246 THBS1 EXON Missense_A195T exm1147643 15 39876332 [A/G] NM_003246 THBS1 EXON Missense_E283K exm1147657 15 39879549 [T/C] NM_003246 THBS1 EXON Synonymous_P374P exm1147666 15 39879691 [A/C] NM_003246 THBS1 EXON Missense_T422P exm1147677 15 39880805 [A/G] NM_003246 THBS1 EXON Missense_R517H exm1147679 15 39880822 [A/G] NM_003246 THBS1 EXON Missense_T523A exm1828305 15 39881431 [A/G] NM_003246 THBS1 EXON Missense_N601S exm1147690 15 39881448 [T/C] NM_003246 THBS1 EXON Missense_R607W exm1147691 15 39881449 [A/G] NM_003246 THBS1 EXON Missense_R607Q exm1147701 15 39882099 [T/C] NM_003246 THBS1 EXON Missense_Y674H exm1147707 15 39882178 [A/G] NM_003246 THBS1 EXON Missense_N700S exm1147708 15 39882203 [A/T] NM_003246 THBS1 EXON Missense_N708K exm1147720 15 39883534 [A/C] NM_003246 THBS1 EXON Missense_A799E exm1147721 15 39883540 [T/A] NM_003246 THBS1 EXON Missense_I801N exm1828317 15 39883738 [A/G] NM_003246 THBS1 EXON Missense_V816I exm1147753 15 39885869 [C/G] NM_003246 THBS1 EXON Missense_Q1089H exm1147754 15 39886304 [A/G] NM_003246 THBS1 EXON Missense_R1091H exm2223186 15 39886330 [A/G] NM_003246 THBS1 EXON Missense_I1100V exm1147777 15 39909953 [A/G] NM_152597 FSIP1 EXON Missense_P561L exm1147779 15 39910004 [T/C] NM_152597 FSIP1 EXON Missense_G544D exm1147780 15 39910014 [G/C] NM_152597 FSIP1 EXON Missense_P541A exm1147782 15 39910052 [C/G] NM_152597 FSIP1 EXON Missense_G528A exm1147787 15 39910115 [A/G] NM_152597 FSIP1 EXON Missense_L507P exm1147792 15 39910225 [T/C] NM_152597 FSIP1 EXON Missense_M470I exm1147799 15 39910431 [A/G] NM_152597 FSIP1 EXON Missense_C402R exm1147804 15 40005712 [T/C] NM_152597 FSIP1 EXON Missense_E374G exm1147805 15 40005731 [A/T] NM_152597 FSIP1 EXON Missense_I368L exm1147809 15 40005772 [T/C] NM_152597 FSIP1 EXON Missense_R354H exm1147815 15 40018870 [T/C] NM_152597 FSIP1 EXON Missense_D324N exm1147832 15 40034007 [T/G] NM_152597 FSIP1 EXON Missense_K218N exm-rs8033957 15 40038433 [T/C] NM_152597 FSIP1 Silent exm1147838 15 40056058 [T/A] NM_152597 FSIP1 EXON Missense_F175I exm1147848 15 40062748 [T/C] NM_152597 FSIP1 EXON Missense_N64D exm1147850 15 40062778 [G/C] NM_152597 FSIP1 EXON Missense_E54Q exm1147853 15 40062808 [T/C] NM_152597 FSIP1 EXON Missense_D44N exm1147873 15 40068721 [T/C] NM_152597 FSIP1 EXON Missense_D2G exm1147874 15 40068725 [T/C] NM_152597 FSIP1 EXON Missense_M1V exm2252131 15 40088761 [T/C] exm1147893 15 40093448 [C/G] NM_001271854,NM_001271855,NM_007223 GPR176,GPR176,GPR176 EXON Missense_P477R,Missense_P433R,Missense_P478R exm1147907 15 40093986 [T/C] NM_001271854,NM_001271855,NM_007223 GPR176,GPR176,GPR176 EXON Missense_V298I,Missense_V254I,Missense_V299I exm1147912 15 40094085 [T/C] NM_001271854,NM_001271855,NM_007223 GPR176,GPR176,GPR176 EXON Missense_A265T,Missense_A221T,Missense_A266T exm1147920 15 40094261 [A/G] NM_001271854,NM_001271855,NM_007223 GPR176,GPR176,GPR176 EXON Missense_L206P,Missense_L162P,Missense_L207P exm1147940 15 40212098 [T/C] NM_001271854,NM_007223 GPR176,GPR176 EXON Missense_T44A,Missense_T44A exm1147952 15 40231779 [T/C] NM_001013703 EIF2AK4 EXON Missense_V73A exm1147965 15 40241452 [T/C] NM_001013703 EIF2AK4 EXON Missense_R166W exm1147968 15 40246136 [A/G] NM_001013703 EIF2AK4 EXON Missense_R182K exm1147969 15 40246149 [A/G] NM_001013703 EIF2AK4 EXON Missense_I186M exm1147973 15 40247876 [G/C] NM_001013703 EIF2AK4 EXON Missense_P217R exm2223192 15 40247902 [A/C] NM_001013703 EIF2AK4 EXON Missense_L226I exm1147977 15 40253986 [T/C] NM_001013703 EIF2AK4 EXON Nonsense_R249X exm1147987 15 40259632 [G/C] NM_001013703 EIF2AK4 EXON Missense_Q369E exm1147994 15 40259792 [T/G] NM_001013703 EIF2AK4 EXON Missense_V422G exm1147995 15 40259848 [A/C] NM_001013703 EIF2AK4 EXON Missense_I441L exm1148003 15 40260002 [A/G] NM_001013703 EIF2AK4 EXON Missense_S492N exm1148006 15 40260064 [C/G] NM_001013703 EIF2AK4 EXON Missense_Q513E exm2274739 15 40265116 [T/C] NM_001013703 EIF2AK4 EXON Missense_C521R exm1148014 15 40265799 [A/G] NM_001013703 EIF2AK4 EXON Missense_E556G exm1148033 15 40268992 [T/G] NM_001013703 EIF2AK4 EXON Missense_D732E exm1148034 15 40268998 [C/G] NM_001013703 EIF2AK4 EXON Missense_E734D exm1148035 15 40269010 [C/G] NM_001013703 EIF2AK4 EXON Missense_E738D exm1148036 15 40269017 [G/C] NM_001013703 EIF2AK4 EXON Missense_H741D exm1148062 15 40290939 [T/C] NM_001013703 EIF2AK4 EXON Missense_S959L exm2252132 15 40293395 [T/C] NM_001013703 EIF2AK4 EXON Synonymous_I1043I exm1148068 15 40293395 [T/C] NM_001013703 EIF2AK4 EXON Synonymous_I1043I exm1148073 15 40294929 [T/C] NM_001013703 EIF2AK4 EXON Missense_R1059C exm1148074 15 40294963 [C/G] NM_001013703 EIF2AK4 EXON Missense_T1070S exm1148084 15 40300245 [T/G] NM_001013703 EIF2AK4 EXON Missense_V1142G exm1148085 15 40300254 [T/C] NM_001013703 EIF2AK4 EXON Missense_P1145L exm1148104 15 40308859 [T/G] NM_001013703 EIF2AK4 EXON Missense_G1306C exm1148105 15 40309385 [A/G] NM_001013703 EIF2AK4 EXON Missense_K1336R exm1148106 15 40311343 [T/C] NM_001013703 EIF2AK4 EXON Missense_I1372T exm1148112 15 40313144 [T/G] NM_001013703 EIF2AK4 EXON Missense_Q1406H exm1148126 15 40322614 [T/C] NM_001013703 EIF2AK4 EXON Missense_P1539L exm1148142 15 40328560 [T/C] NM_003134 SRP14 EXON Missense_T129A exm-rs7181230 15 40360741 [A/G] exm1148163 15 40384006 [A/G] NM_001003943,NM_033503,NM_001003940,NM_001003942 BMF,BMF,BMF,BMF EXON Missense_R126W,Synonymous_N179N,Synonymous_N179N,Synonymous_N158N exm1148166 15 40384070 [T/C] NM_001003943,NM_033503,NM_001003940,NM_001003942 BMF,BMF,BMF,BMF EXON Synonymous_S104S,Missense_R158H,Missense_R158H,Missense_R137H exm1148171 15 40396444 [T/C] NM_001003943,NM_033503,NM_001003940,NM_001003942 BMF,BMF,BMF,BMF EXON Silent,Synonymous_E130E,Synonymous_E130E,Synonymous_E130E exm1148173 15 40396521 [A/G] NM_001003943,NM_033503,NM_001003940,NM_001003942 BMF,BMF,BMF,BMF EXON Silent,Missense_P105S,Missense_P105S,Missense_P105S exm1148181 15 40398238 [A/G] NM_001003943,NM_033503,NM_001003940,NM_001003942 BMF,BMF,BMF,BMF EXON Missense_P17L,Missense_P17L,Missense_P17L,Missense_P17L exm1148193 15 40457337 [T/C] NM_001211 BUB1B EXON Missense_T40M exm1148227 15 40477386 [T/C] NM_001211 BUB1B EXON Missense_L258F exm1148230 15 40477419 [A/G] NM_001211 BUB1B EXON Missense_N269D exm1148233 15 40477786 [T/C] NM_001211 BUB1B EXON Missense_P334L exm1148237 15 40477831 [A/G] NM_001211 BUB1B EXON Missense_R349Q exm1148239 15 40488814 [T/G] NM_001211 BUB1B EXON Missense_G376V exm1148243 15 40488857 [C/G] NM_001211 BUB1B EXON Missense_E390D exm1148245 15 40488914 [A/C] NM_001211 BUB1B EXON Missense_E409D exm1148248 15 40488948 [T/C] NM_001211 BUB1B EXON Missense_R421W exm1148249 15 40488949 [A/G] NM_001211 BUB1B EXON Missense_R421Q exm1148254 15 40492455 [T/C] NM_001211 BUB1B EXON Missense_T471M exm1148257 15 40492521 [T/C] NM_001211 BUB1B EXON Missense_T493I exm1148268 15 40494791 [T/C] NM_001211 BUB1B EXON Missense_P544S exm1148269 15 40494810 [A/G] NM_001211 BUB1B EXON Missense_R550Q exm1148272 15 40498503 [T/C] NM_001211 BUB1B EXON Missense_V618A exm1148275 15 40498593 [T/C] NM_001211 BUB1B EXON Missense_T648I exm1148287 15 40502377 [T/C] NM_001211 BUB1B EXON Missense_A784V exm1148289 15 40504703 [T/G] NM_001211 BUB1B EXON Missense_S797A exm1148300 15 40509764 [A/G] NM_001211,NM_001128629,NM_001128628 BUB1B,PAK6,PAK6 EXON Missense_V916I,Silent,Silent exm1148305 15 40509781 [C/G] NM_001211,NM_001128629,NM_001128628 BUB1B,PAK6,PAK6 EXON Missense_Q921H,Silent,Silent exm1148307 15 40509803 [A/G] NM_001211,NM_001128629,NM_001128628 BUB1B,PAK6,PAK6 EXON Missense_G929S,Silent,Silent exm1148316 15 40512818 [A/G] NM_001211,NM_001128629,NM_001128628 BUB1B,PAK6,PAK6 EXON Missense_N1004S,Silent,Silent exm1148318 15 40512901 [A/C] NM_001211,NM_001128629,NM_001128628 BUB1B,PAK6,PAK6 EXON Missense_N1032H,Silent,Silent exm2267762 15 40539373 [A/G] NM_001128629,NM_001128628,NM_020168 PAK6,PAK6,PAK6 Silent,Silent,Silent exm1148323 15 40544493 [A/G] NM_001128629,NM_001128628,NM_020168,NM_001039905 PAK6,PAK6,PAK6,C15orf56 EXON Silent,Silent,Silent,Missense_I160T exm1148326 15 40544520 [G/C] NM_001128629,NM_001128628,NM_020168,NM_001039905 PAK6,PAK6,PAK6,C15orf56 EXON Silent,Silent,Silent,Missense_P151R exm1148332 15 40544617 [A/G] NM_001128629,NM_001128628,NM_020168,NM_001039905 PAK6,PAK6,PAK6,C15orf56 EXON Silent,Silent,Silent,Missense_P119S exm1148344 15 40556983 [T/C] NM_001128629,NM_001128628,NM_020168 PAK6,PAK6,PAK6 EXON Silent,Silent,Silent exm1148346 15 40557012 [A/G] NM_001128629,NM_001128628,NM_020168 PAK6,PAK6,PAK6 EXON Missense_R9H,Missense_R9H,Missense_R9H exm1148349 15 40557027 [T/C] NM_001128629,NM_001128628,NM_020168 PAK6,PAK6,PAK6 EXON Missense_A14V,Missense_A14V,Missense_A14V exm1148360 15 40558064 [A/G] NM_001128629,NM_001128628,NM_020168 PAK6,PAK6,PAK6 EXON Missense_M76V,Missense_M76V,Missense_M76V exm1148384 15 40558316 [T/C] NM_001128629,NM_001128628,NM_020168 PAK6,PAK6,PAK6 EXON Missense_W160R,Missense_W160R,Missense_W160R exm1148395 15 40558407 [A/G] NM_001128629,NM_001128628,NM_020168 PAK6,PAK6,PAK6 EXON Missense_Q190R,Missense_Q190R,Missense_Q190R exm1148397 15 40558410 [A/G] NM_001128629,NM_001128628,NM_020168 PAK6,PAK6,PAK6 EXON Missense_R191H,Missense_R191H,Missense_R191H exm1148399 15 40558431 [A/G] NM_001128629,NM_001128628,NM_020168 PAK6,PAK6,PAK6 EXON Missense_C198Y,Missense_C198Y,Missense_C198Y exm1148400 15 40558452 [A/G] NM_001128629,NM_001128628,NM_020168 PAK6,PAK6,PAK6 EXON Missense_G205E,Missense_G205E,Missense_G205E exm1148402 15 40558460 [A/C] NM_001128629,NM_001128628,NM_020168 PAK6,PAK6,PAK6 EXON Missense_P208T,Missense_P208T,Missense_P208T exm1148403 15 40558467 [T/C] NM_001128629,NM_001128628,NM_020168 PAK6,PAK6,PAK6 EXON Missense_T210M,Missense_T210M,Missense_T210M exm1148407 15 40558482 [A/G] NM_001128629,NM_001128628,NM_020168 PAK6,PAK6,PAK6 EXON Missense_H215R,Missense_H215R,Missense_H215R exm1148412 15 40558623 [A/G] NM_001128629,NM_001128628,NM_020168 PAK6,PAK6,PAK6 EXON Missense_R262Q,Missense_R262Q,Missense_R262Q exm1148417 15 40564441 [A/G] NM_001128629,NM_001128628,NM_020168 PAK6,PAK6,PAK6 EXON Missense_R292Q,Missense_R292Q,Missense_R292Q exm1148425 15 40564566 [T/C] NM_001128629,NM_001128628,NM_020168 PAK6,PAK6,PAK6 EXON Missense_R334C,Missense_R334C,Missense_R334C exm1148428 15 40564576 [T/C] NM_001128629,NM_001128628,NM_020168 PAK6,PAK6,PAK6 EXON Missense_P337L,Missense_P337L,Missense_P337L exm1148435 15 40564675 [T/C] NM_001128629,NM_001128628,NM_020168 PAK6,PAK6,PAK6 EXON Missense_P370L,Missense_P370L,Missense_P370L exm1148446 15 40564839 [T/C] NM_001128629,NM_001128628,NM_020168 PAK6,PAK6,PAK6 EXON Missense_R425W,Missense_R425W,Missense_R425W exm1148447 15 40564840 [A/G] NM_001128629,NM_001128628,NM_020168 PAK6,PAK6,PAK6 EXON Missense_R425Q,Missense_R425Q,Missense_R425Q exm1148465 15 40566380 [T/C] NM_001128629,NM_001128628,NM_020168 PAK6,PAK6,PAK6 EXON Missense_M594T,Missense_M594T,Missense_M594T exm1148486 15 40581077 [T/C] NM_004573 PLCB2 EXON Missense_G1133S exm1148487 15 40581089 [T/C] NM_004573 PLCB2 EXON Missense_A1129T exm1148492 15 40581499 [T/C] NM_004573 PLCB2 EXON Missense_E1110K exm1148495 15 40581543 [T/C] NM_004573 PLCB2 EXON Missense_E1095G exm1148501 15 40582819 [A/C] NM_004573 PLCB2 EXON Missense_Q1056H exm1148510 15 40583223 [T/G] NM_004573 PLCB2 EXON Missense_A1011D exm1148523 15 40583620 [T/C] NM_004573 PLCB2 EXON Missense_E906K exm1148537 15 40584641 [T/C] NM_004573 PLCB2 EXON Missense_Y777C exm1148539 15 40585126 [T/C] NM_004573 PLCB2 Silent exm1148541 15 40585189 [A/C] NM_004573 PLCB2 EXON Missense_V755G exm1148547 15 40586468 [A/G] NM_004573 PLCB2 EXON Missense_T687M exm1148552 15 40586499 [T/C] NM_004573 PLCB2 EXON Missense_D677N exm1148553 15 40586537 [A/G] NM_004573 PLCB2 EXON Missense_P664L exm1148582 15 40589021 [A/G] NM_004573 PLCB2 EXON Missense_T471I exm1148585 15 40589742 [T/C] NM_004573 PLCB2 EXON Missense_E435K exm1148589 15 40589771 [T/C] NM_004573 PLCB2 EXON Missense_R425Q exm1148614 15 40591062 [A/G] NM_004573 PLCB2 EXON Missense_R263W exm1148615 15 40591092 [A/G] NM_004573 PLCB2 EXON Missense_R253W exm1148623 15 40594181 [A/C] NM_004573 PLCB2 EXON Missense_A187S exm1148627 15 40594346 [A/G] NM_004573 PLCB2 EXON Missense_P166L exm1148629 15 40594471 [A/G] NM_004573 PLCB2 EXON Missense_I151T exm1148630 15 40594486 [A/G] NM_004573 PLCB2 EXON Missense_T146I exm1148643 15 40594758 [A/C] NM_004573 PLCB2 EXON Missense_L95R exm1148644 15 40594784 [T/G] NM_004573 PLCB2 EXON Missense_N86K exm1148658 15 40627384 [T/C] NM_207380 C15orf52 EXON Missense_R527H exm1148661 15 40627396 [T/C] NM_207380 C15orf52 EXON Missense_R523H exm1148665 15 40627448 [A/G] NM_207380 C15orf52 EXON Missense_R506W exm1148672 15 40627604 [T/C] NM_207380 C15orf52 EXON Missense_E454K exm1148679 15 40627777 [A/G] NM_207380 C15orf52 EXON Missense_P396L exm1148685 15 40627825 [A/C] NM_207380 C15orf52 EXON Missense_L380R exm1148687 15 40627853 [T/G] NM_207380 C15orf52 EXON Missense_K371Q exm1148696 15 40628857 [T/C] NM_207380 C15orf52 EXON Missense_G313R exm1148706 15 40629612 [A/G] NM_207380 C15orf52 EXON Missense_P284L exm1828694 15 40629995 [A/G] NM_207380 C15orf52 EXON Missense_R249C exm1148724 15 40630073 [A/G] NM_207380 C15orf52 EXON Missense_R223W exm1148731 15 40630761 [A/G] NM_207380 C15orf52 EXON Missense_A207V exm1148742 15 40631038 [C/G] NM_207380 C15orf52 EXON Missense_L144V exm1148750 15 40631757 [A/G] NM_207380 C15orf52 EXON Missense_L107F exm1148766 15 40633029 [T/C] NM_207380 C15orf52 EXON Missense_A42T exm1148771 15 40633074 [A/G] NM_207380 C15orf52 EXON Missense_P27S exm1828713 15 40655827 [A/G] NM_033510 DISP2 EXON Missense_T41A exm1148780 15 40655845 [C/G] NM_033510 DISP2 EXON Missense_P47A exm1148781 15 40655873 [C/G] NM_033510 DISP2 EXON Missense_C56S exm1148785 15 40655980 [T/C] NM_033510 DISP2 EXON Missense_H92Y exm1148787 15 40655995 [T/C] NM_033510 DISP2 EXON Missense_R97W exm1148792 15 40656047 [A/G] NM_033510 DISP2 EXON Missense_R114Q exm1148796 15 40656106 [A/G] NM_033510 DISP2 EXON Missense_D134N exm1148815 15 40657415 [T/C] NM_033510 DISP2 EXON Missense_R263W exm1148823 15 40659263 [A/G] NM_033510 DISP2 EXON Missense_R317H exm1148827 15 40659437 [A/T] NM_033510 DISP2 EXON Missense_Y375F exm1148829 15 40659469 [C/G] NM_033510 DISP2 EXON Missense_G386R exm1148830 15 40659476 [A/G] NM_033510 DISP2 EXON Missense_G388E exm1148833 15 40659499 [A/G] NM_033510 DISP2 EXON Missense_A396T exm1148843 15 40659713 [T/C] NM_033510 DISP2 EXON Missense_T467I exm1148845 15 40659721 [A/T] NM_033510 DISP2 EXON Missense_T470S exm1148846 15 40659731 [A/C] NM_033510 DISP2 EXON Missense_D473A exm1148850 15 40659770 [T/C] NM_033510 DISP2 EXON Missense_V486A exm1148854 15 40659871 [A/G] NM_033510 DISP2 EXON Missense_V520M exm1148862 15 40660039 [C/G] NM_033510 DISP2 EXON Missense_G576R exm1148863 15 40660043 [T/G] NM_033510 DISP2 EXON Missense_G577V exm1148893 15 40660793 [C/G] NM_033510 DISP2 EXON Missense_T827S exm1148894 15 40660807 [A/T] NM_033510 DISP2 EXON Missense_W832R exm1148898 15 40660894 [A/C] NM_033510 DISP2 EXON Missense_H861N exm1148910 15 40661272 [C/G] NM_033510 DISP2 EXON Missense_P987A exm1148912 15 40661290 [A/G] NM_033510 DISP2 EXON Missense_V993M exm1148913 15 40661311 [A/G] NM_033510 DISP2 EXON Missense_V1000M exm1148932 15 40661746 [A/G] NM_033510 DISP2 EXON Missense_G1145S exm1148937 15 40661828 [A/G] NM_033510 DISP2 EXON Missense_R1172Q exm1148945 15 40661942 [C/G] NM_033510 DISP2 EXON Missense_A1210G exm1148977 15 40675061 [G/C] NM_001142761,NM_001142762,NM_033286 KNSTRN,KNSTRN,KNSTRN EXON Missense_L9V,Missense_L9V,Missense_L9V exm1148985 15 40675155 [A/C] NM_001142761,NM_001142762,NM_033286 KNSTRN,KNSTRN,KNSTRN EXON Missense_A40E,Missense_A40E,Missense_A40E exm1148988 15 40675176 [A/C] NM_001142761,NM_001142762,NM_033286 KNSTRN,KNSTRN,KNSTRN EXON Missense_T47K,Missense_T47K,Missense_T47K exm1148989 15 40675178 [A/G] NM_001142761,NM_001142762,NM_033286 KNSTRN,KNSTRN,KNSTRN EXON Missense_T48A,Missense_T48A,Missense_T48A exm1148992 15 40675429 [G/C] NM_001142761,NM_001142762,NM_033286 KNSTRN,KNSTRN,KNSTRN EXON Synonymous_G70G,Synonymous_G70G,Synonymous_G70G exm1148993 15 40675443 [T/G] NM_001142761,NM_001142762,NM_033286 KNSTRN,KNSTRN,KNSTRN EXON Missense_R75L,Missense_R75L,Missense_R75L exm1148995 15 40675493 [T/C] NM_001142761,NM_001142762,NM_033286 KNSTRN,KNSTRN,KNSTRN EXON Missense_P92S,Missense_P92S,Missense_P92S exm1148998 15 40678588 [T/G] NM_001142761,NM_001142762,NM_033286 KNSTRN,KNSTRN,KNSTRN EXON Missense_K110N,Missense_K110N,Missense_K110N exm1149010 15 40682079 [A/G] NM_001142761,NM_001142762,NM_033286 KNSTRN,KNSTRN,KNSTRN EXON Missense_K212E,Missense_K212E,Missense_K212E exm1149011 15 40682086 [A/G] NM_001142761,NM_001142762,NM_033286 KNSTRN,KNSTRN,KNSTRN EXON Missense_R214Q,Missense_R214Q,Missense_R214Q exm1149012 15 40682098 [T/C] NM_001142761,NM_001142762,NM_033286 KNSTRN,KNSTRN,KNSTRN EXON Missense_L218S,Missense_L218S,Missense_L218S exm1149014 15 40683702 [A/G] NM_001142761,NM_001142762,NM_033286 KNSTRN,KNSTRN,KNSTRN EXON Missense_S232G,Silent,Missense_S232G exm1149015 15 40683753 [A/G] NM_001142761,NM_001142762,NM_033286 KNSTRN,KNSTRN,KNSTRN EXON Missense_M249V,Silent,Missense_M249V exm1149019 15 40684192 [A/G] NM_001142761,NM_001142762,NM_033286 KNSTRN,KNSTRN,KNSTRN EXON Missense_E264K,Silent,Missense_E264K exm1149029 15 40685797 [A/C] NM_001142761,NM_001142762,NM_033286 KNSTRN,KNSTRN,KNSTRN EXON Silent,Silent,Missense_X317S exm1149036 15 40698039 [T/C] NM_002225,NM_001159508 IVD,IVD EXON Missense_A7V,Missense_A7V exm1149042 15 40698116 [T/C] NM_002225,NM_001159508 IVD,IVD EXON Missense_H33Y,Missense_H33Y exm1149047 15 40699856 [A/T] NM_002225,NM_001159508 IVD,IVD EXON Missense_K58M,Silent exm1149065 15 40702940 [A/G] NM_002225,NM_001159508 IVD,IVD EXON Missense_I137V,Missense_I107V exm1149078 15 40705285 [T/G] NM_002225,NM_001159508 IVD,IVD EXON Synonymous_P264P,Synonymous_P234P exm1149088 15 40707637 [G/C] NM_002225,NM_001159508 IVD,IVD EXON Missense_L309V,Missense_L279V exm1149090 15 40707653 [T/C] NM_002225,NM_001159508 IVD,IVD EXON Missense_A314V,Missense_A284V exm1149093 15 40708277 [T/C] NM_002225,NM_001159508 IVD,IVD EXON Synonymous_L324L,Synonymous_L294L exm1149111 15 40750677 [A/G] NM_014952 BAHD1 EXON Missense_R5Q exm1149112 15 40750721 [T/C] NM_014952 BAHD1 EXON Nonsense_R20X exm1149116 15 40750740 [A/G] NM_014952 BAHD1 EXON Missense_E26G exm1149120 15 40750817 [T/C] NM_014952 BAHD1 EXON Missense_R52C exm1149124 15 40750913 [T/C] NM_014952 BAHD1 EXON Missense_R84W exm1149142 15 40751231 [A/G] NM_014952 BAHD1 EXON Missense_D190N exm1149144 15 40751247 [A/G] NM_014952 BAHD1 EXON Missense_R195Q exm1149153 15 40751349 [A/G] NM_014952 BAHD1 EXON Missense_H229R exm1149154 15 40751366 [T/C] NM_014952 BAHD1 EXON Missense_R235C exm1828812 15 40751381 [G/C] NM_014952 BAHD1 EXON Missense_P240A exm1149157 15 40751399 [A/G] NM_014952 BAHD1 EXON Missense_R246G exm1149165 15 40751540 [A/G] NM_014952 BAHD1 EXON Missense_V293I exm1149166 15 40751555 [A/C] NM_014952 BAHD1 EXON Missense_Q298K exm1149169 15 40751594 [T/C] NM_014952 BAHD1 EXON Missense_R311C exm1149170 15 40751595 [A/G] NM_014952 BAHD1 EXON Missense_R311H exm1149181 15 40751757 [A/G] NM_014952 BAHD1 EXON Missense_N365S exm1149185 15 40751897 [A/G] NM_014952 BAHD1 EXON Missense_E412K exm1828820 15 40751987 [A/G] NM_014952 BAHD1 EXON Missense_E442K exm1149202 15 40754255 [T/C] NM_014952 BAHD1 EXON Missense_S526L exm1149208 15 40754435 [A/G] NM_014952 BAHD1 EXON Missense_R586H exm2260427 15 40759347 [A/G] NM_014952 BAHD1 EXON Silent exm1149241 15 40763920 [T/G] NM_130468 CHST14 EXON Missense_A170S exm1149243 15 40764047 [T/C] NM_130468 CHST14 EXON Missense_V212A exm2273526 15 40845952 [A/G] NM_001080792,NM_001080791,NM_052849 C15orf57,C15orf57,C15orf57 EXON Silent,Silent,Silent exm1149273 15 40846212 [A/G] NM_001080792,NM_001080791,NM_052849 C15orf57,C15orf57,C15orf57 EXON Synonymous_D172D,Synonymous_D181D,Synonymous_D172D exm1149288 15 40855210 [A/T] NM_001080792,NM_001080791,NM_052849 C15orf57,C15orf57,C15orf57 EXON Missense_K2I,Missense_K11I,Missense_K2I exm1149290 15 40856965 [A/G] NM_001080792,NM_001080791,NM_052849 C15orf57,C15orf57,C15orf57 EXON Silent,Synonymous_G5G,Silent exm1149292 15 40856989 [T/C] NM_001080792,NM_001080791,NM_052849 C15orf57,C15orf57,C15orf57 EXON Silent,Silent,Silent exm1149298 15 40861577 [A/G] NM_152260 RPUSD2 EXON Missense_H14R exm1149313 15 40861983 [T/C] NM_152260 RPUSD2 EXON Synonymous_F149F exm1149315 15 40862032 [T/C] NM_152260 RPUSD2 EXON Missense_F166L exm1149324 15 40863807 [A/G] NM_152260 RPUSD2 EXON Missense_N204S exm1149325 15 40863818 [T/C] NM_152260 RPUSD2 EXON Missense_R208W exm1149327 15 40863866 [T/C] NM_152260 RPUSD2 EXON Missense_R224C exm1149348 15 40865822 [G/C] NM_152260 RPUSD2 EXON Missense_V334L exm1149349 15 40865828 [T/C] NM_152260 RPUSD2 EXON Missense_R336C exm1149350 15 40865834 [A/G] NM_152260 RPUSD2 EXON Missense_D338N exm1149351 15 40865838 [T/C] NM_152260 RPUSD2 EXON Missense_P339L exm1149355 15 40865924 [T/C] NM_152260 RPUSD2 EXON Missense_R368C exm1149364 15 40866129 [C/G] NM_152260 RPUSD2 EXON Missense_S436C exm1149368 15 40866186 [A/C] NM_152260 RPUSD2 EXON Missense_E455A exm1149372 15 40866274 [C/G] NM_152260 RPUSD2 EXON Missense_K484N exm1149378 15 40866339 [A/G] NM_152260 RPUSD2 EXON Missense_R506Q exm1149379 15 40866353 [T/C] NM_152260 RPUSD2 EXON Missense_P511S exm1149380 15 40866357 [A/G] NM_152260 RPUSD2 EXON Missense_Q512R exm1149386 15 40898604 [T/C] NM_170589,NM_144508 CASC5,CASC5 EXON Missense_P30L,Missense_P30L exm1149388 15 40898643 [C/G] NM_170589,NM_144508 CASC5,CASC5 EXON Missense_R43T,Missense_R43T exm1149393 15 40902490 [T/C] NM_170589,NM_144508 CASC5,CASC5 EXON Missense_M82T,Missense_M82T exm1149401 15 40903684 [A/G] NM_170589,NM_144508 CASC5,CASC5 EXON Missense_T113A,Missense_T87A exm1149406 15 40912859 [T/C] NM_170589,NM_144508 CASC5,CASC5 EXON Missense_R159C,Missense_R133C exm1149409 15 40912913 [A/G] NM_170589,NM_144508 CASC5,CASC5 EXON Missense_M177V,Missense_M151V exm1149413 15 40912959 [T/C] NM_170589,NM_144508 CASC5,CASC5 EXON Missense_L192S,Missense_L166S exm1828883 15 40913033 [A/G] NM_170589,NM_144508 CASC5,CASC5 EXON Missense_E217K,Missense_E191K exm1149417 15 40913185 [A/G] NM_170589,NM_144508 CASC5,CASC5 EXON Missense_I267M,Missense_I241M exm1149418 15 40913189 [A/G] NM_170589,NM_144508 CASC5,CASC5 EXON Missense_I269V,Missense_I243V exm1149422 15 40913274 [C/G] NM_170589,NM_144508 CASC5,CASC5 EXON Missense_T297S,Missense_T271S exm1149429 15 40913591 [A/G] NM_170589,NM_144508 CASC5,CASC5 EXON Missense_I403V,Missense_I377V exm1149432 15 40913676 [A/G] NM_170589,NM_144508 CASC5,CASC5 EXON Missense_D431G,Missense_D405G exm1149443 15 40913829 [A/G] NM_170589,NM_144508 CASC5,CASC5 EXON Missense_D482G,Missense_D456G exm1149448 15 40913955 [T/A] NM_170589,NM_144508 CASC5,CASC5 EXON Missense_I524N,Missense_I498N exm1149451 15 40913985 [A/T] NM_170589,NM_144508 CASC5,CASC5 EXON Missense_I534K,Missense_I508K exm1149456 15 40914177 [T/C] NM_170589,NM_144508 CASC5,CASC5 EXON Missense_M598T,Missense_M572T exm1828892 15 40914216 [A/G] NM_170589,NM_144508 CASC5,CASC5 EXON Missense_Q611R,Missense_Q585R exm1149459 15 40914230 [T/G] NM_170589,NM_144508 CASC5,CASC5 EXON Missense_A616S,Missense_A590S exm1149468 15 40914432 [T/C] NM_170589,NM_144508 CASC5,CASC5 EXON Missense_P683L,Missense_P657L exm1149470 15 40914465 [A/C] NM_170589,NM_144508 CASC5,CASC5 EXON Missense_T694K,Missense_T668K exm1149471 15 40914476 [A/C] NM_170589,NM_144508 CASC5,CASC5 EXON Missense_I698L,Missense_I672L exm1149478 15 40914773 [A/G] NM_170589,NM_144508 CASC5,CASC5 EXON Missense_V797I,Missense_V771I exm1149480 15 40914831 [G/C] NM_170589,NM_144508 CASC5,CASC5 EXON Missense_T816S,Missense_T790S exm1149485 15 40915062 [A/G] NM_170589,NM_144508 CASC5,CASC5 EXON Missense_D893G,Missense_D867G exm1828902 15 40915075 [T/G] NM_170589,NM_144508 CASC5,CASC5 EXON Missense_D897E,Missense_D871E exm1149490 15 40915190 [A/G] NM_170589,NM_144508 CASC5,CASC5 EXON Missense_R936G,Missense_R910G exm1149491 15 40915277 [T/A] NM_170589,NM_144508 CASC5,CASC5 EXON Missense_M965L,Missense_M939L exm1149497 15 40915407 [A/G] NM_170589,NM_144508 CASC5,CASC5 EXON Missense_S1008N,Missense_S982N exm1149498 15 40915411 [A/G] NM_170589,NM_144508 CASC5,CASC5 EXON Synonymous_L1009L,Synonymous_L983L exm2252135 15 40915411 [A/G] NM_170589,NM_144508 CASC5,CASC5 EXON Synonymous_L1009L,Synonymous_L983L exm1149514 15 40915952 [C/G] NM_170589,NM_144508 CASC5,CASC5 EXON Missense_L1190V,Missense_L1164V exm1149532 15 40916237 [A/G] NM_170589,NM_144508 CASC5,CASC5 EXON Missense_K1285E,Missense_K1259E exm1149533 15 40916268 [A/T] NM_170589,NM_144508 CASC5,CASC5 EXON Missense_K1295I,Missense_K1269I exm1149537 15 40916423 [T/C] NM_170589,NM_144508 CASC5,CASC5 EXON Missense_L1347F,Missense_L1321F exm1828917 15 40916462 [T/C] NM_170589,NM_144508 CASC5,CASC5 EXON Missense_P1360S,Missense_P1334S exm1149544 15 40916632 [A/T] NM_170589,NM_144508 CASC5,CASC5 EXON Missense_D1416E,Missense_D1390E exm1149546 15 40916693 [A/G] NM_170589,NM_144508 CASC5,CASC5 EXON Missense_G1437R,Missense_G1411R exm1149548 15 40916793 [A/G] NM_170589,NM_144508 CASC5,CASC5 EXON Missense_H1470R,Missense_H1444R exm1149549 15 40916801 [A/G] NM_170589,NM_144508 CASC5,CASC5 EXON Missense_T1473A,Missense_T1447A exm1149550 15 40916802 [T/C] NM_170589,NM_144508 CASC5,CASC5 EXON Missense_T1473I,Missense_T1447I exm1149554 15 40916841 [T/C] NM_170589,NM_144508 CASC5,CASC5 EXON Missense_I1486T,Missense_I1460T exm1149564 15 40917077 [A/G] NM_170589,NM_144508 CASC5,CASC5 EXON Missense_A1565T,Missense_A1539T exm1149565 15 40917081 [A/G] NM_170589,NM_144508 CASC5,CASC5 EXON Missense_G1566E,Missense_G1540E exm1149567 15 40917234 [A/G] NM_170589,NM_144508 CASC5,CASC5 EXON Missense_N1617S,Missense_N1591S exm1149570 15 40917393 [A/G] NM_170589,NM_144508 CASC5,CASC5 EXON Missense_K1670R,Missense_K1644R exm1149572 15 40917442 [C/G] NM_170589,NM_144508 CASC5,CASC5 EXON Missense_K1686N,Missense_K1660N exm1149594 15 40920815 [A/G] NM_170589,NM_144508 CASC5,CASC5 EXON Missense_R1867H,Missense_R1841H exm1149610 15 40937938 [T/G] NM_170589,NM_144508 CASC5,CASC5 EXON Missense_A2018S,Missense_A1992S exm1149614 15 40939212 [A/G] NM_170589,NM_144508 CASC5,CASC5 EXON Missense_I2038V,Missense_I2012V exm1149616 15 40939221 [A/C] NM_170589,NM_144508 CASC5,CASC5 EXON Missense_M2041L,Missense_M2015L exm1149617 15 40942535 [T/C] NM_170589,NM_144508 CASC5,CASC5 EXON Missense_P2070L,Missense_P2044L exm1149632 15 40947116 [T/C] NM_170589,NM_144508 CASC5,CASC5 EXON Missense_P2168L,Missense_P2142L exm1149633 15 40947164 [T/C] NM_170589,NM_144508 CASC5,CASC5 EXON Missense_S2184F,Missense_S2158F exm1149634 15 40947173 [A/G] NM_170589,NM_144508 CASC5,CASC5 EXON Missense_D2187G,Missense_D2161G exm1149657 15 40990956 [A/C] NM_133487,NM_001164270,NM_002875,NM_001164269 RAD51,RAD51,RAD51,RAD51 EXON Silent,Silent,Silent,Silent exm1149662 15 40993338 [T/C] NM_133487,NM_001164270,NM_002875,NM_001164269 RAD51,RAD51,RAD51,RAD51 EXON Missense_A55V,Missense_A55V,Missense_A55V,Missense_A55V exm1149672 15 41001243 [A/G] NM_133487,NM_001164270,NM_002875,NM_001164269 RAD51,RAD51,RAD51,RAD51 EXON Missense_I123V,Missense_I122V,Missense_I122V,Missense_I123V exm1149673 15 41001295 [T/C] NM_133487,NM_001164270,NM_002875,NM_001164269 RAD51,RAD51,RAD51,RAD51 EXON Missense_T140M,Missense_T139M,Missense_T139M,Missense_T140M exm1149676 15 41011016 [A/G] NM_133487,NM_001164270,NM_002875,NM_001164269 RAD51,RAD51,RAD51,RAD51 EXON Missense_R151Q,Missense_R150Q,Missense_R150Q,Missense_R151Q exm-rs2304580 15 41029667 [T/C] NM_018145 RMDN3 Silent exm1828979 15 41029917 [T/C] NM_018145 RMDN3 EXON Missense_H378R exm1149712 15 41029923 [A/C] NM_018145 RMDN3 EXON Missense_V376G exm1149724 15 41032382 [T/G] NM_018145 RMDN3 EXON Missense_E307A exm1149727 15 41036269 [T/C] NM_018145 RMDN3 EXON Missense_E296K exm1828995 15 41037213 [T/G] NM_018145 RMDN3 EXON Synonymous_R257R exm1149733 15 41037232 [G/C] NM_018145 RMDN3 EXON Missense_R250S exm1149761 15 41046883 [A/C] NM_018145 RMDN3 EXON Missense_Q33H exm1149770 15 41058049 [A/G] NM_005258 GCHFR EXON Missense_D21N exm1149778 15 41059530 [T/C] NM_005258 GCHFR EXON Missense_C80R exm1149787 15 41060221 [T/C] NM_018163 DNAJC17 EXON Missense_M278V exm1149789 15 41062758 [A/G] NM_018163,NM_001130448 DNAJC17,C15orf62 EXON Silent,Missense_R22Q exm2276371 15 41065947 [C/G] NM_018163 DNAJC17 EXON Missense_R257P exm1149810 15 41066008 [C/G] NM_018163 DNAJC17 EXON Missense_L237V exm1149813 15 41066625 [C/G] NM_018163 DNAJC17 EXON Missense_V204L exm1149814 15 41067242 [T/C] NM_018163 DNAJC17 EXON Missense_R196Q exm1149819 15 41067791 [T/C] NM_018163 DNAJC17 EXON Missense_K161R exm1149821 15 41068409 [T/C] NM_018163 DNAJC17 EXON Missense_D155N exm1829028 15 41068483 [T/C] NM_018163 DNAJC17 EXON Missense_R130H exm1149828 15 41068771 [T/G] NM_018163 DNAJC17 EXON Missense_E117A exm1829031 15 41071757 [T/C] NM_018163 DNAJC17 EXON Missense_D65N exm1149839 15 41099577 [T/G] NM_018163,NM_001258420,NM_032850,NM_001258421,NM_001077268 DNAJC17,ZFYVE19,ZFYVE19,ZFYVE19,ZFYVE19 EXON Missense_A23E,Silent,Missense_A31S,Silent,Silent exm1149848 15 41099819 [T/C] NM_001258420,NM_032850,NM_001258421,NM_001077268 ZFYVE19,ZFYVE19,ZFYVE19,ZFYVE19 EXON Missense_P11L,Silent,Silent,Missense_P11L exm1149849 15 41099827 [T/C] NM_001258420,NM_032850,NM_001258421,NM_001077268 ZFYVE19,ZFYVE19,ZFYVE19,ZFYVE19 EXON Missense_P14S,Silent,Silent,Missense_P14S exm1149850 15 41099843 [C/G] NM_001258420,NM_032850,NM_001258421,NM_001077268 ZFYVE19,ZFYVE19,ZFYVE19,ZFYVE19 EXON Missense_R19T,Silent,Silent,Missense_R19T exm1149860 15 41100001 [G/C] NM_001258420,NM_032850,NM_001258421,NM_001077268 ZFYVE19,ZFYVE19,ZFYVE19,ZFYVE19 EXON Missense_L72V,Silent,Silent,Missense_L72V exm2223233 15 41101320 [A/G] NM_001258420,NM_032850,NM_001258421,NM_001077268 ZFYVE19,ZFYVE19,ZFYVE19,ZFYVE19 EXON Missense_G95S,Missense_G85S,Silent,Missense_G95S exm1149881 15 41102150 [T/C] NM_001258420,NM_032850,NM_001258421,NM_001077268 ZFYVE19,ZFYVE19,ZFYVE19,ZFYVE19 EXON Missense_R185C,Missense_R175C,Missense_R10C,Missense_R185C exm1149882 15 41102166 [T/C] NM_001258420,NM_032850,NM_001258421,NM_001077268 ZFYVE19,ZFYVE19,ZFYVE19,ZFYVE19 EXON Missense_P190L,Missense_P180L,Missense_P15L,Missense_P190L exm1149887 15 41102301 [T/C] NM_001258420,NM_032850,NM_001258421,NM_001077268 ZFYVE19,ZFYVE19,ZFYVE19,ZFYVE19 EXON Missense_R202W,Missense_R192W,Missense_R27W,Missense_R202W exm1149890 15 41102326 [A/G] NM_001258420,NM_032850,NM_001258421,NM_001077268 ZFYVE19,ZFYVE19,ZFYVE19,ZFYVE19 EXON Missense_R210H,Missense_R200H,Missense_R35H,Missense_R210H exm1149895 15 41102413 [T/C] NM_001258420,NM_032850,NM_001258421,NM_001077268 ZFYVE19,ZFYVE19,ZFYVE19,ZFYVE19 EXON Missense_P239L,Missense_P229L,Missense_P64L,Missense_P239L exm1149918 15 41105926 [T/G] NM_001258420,NM_032850,NM_001258421,NM_001077268 ZFYVE19,ZFYVE19,ZFYVE19,ZFYVE19 EXON Missense_S308A,Missense_S366A,Missense_S201A,Missense_S376A exm1149920 15 41105942 [A/G] NM_001258420,NM_032850,NM_001258421,NM_001077268 ZFYVE19,ZFYVE19,ZFYVE19,ZFYVE19 EXON Missense_S313N,Missense_S371N,Missense_S206N,Missense_S381N exm1149924 15 41105992 [T/C] NM_001258420,NM_032850,NM_001258421,NM_001077268 ZFYVE19,ZFYVE19,ZFYVE19,ZFYVE19 EXON Missense_R330C,Missense_R388C,Missense_R223C,Missense_R398C exm1149926 15 41105995 [A/G] NM_001258420,NM_032850,NM_001258421,NM_001077268 ZFYVE19,ZFYVE19,ZFYVE19,ZFYVE19 EXON Missense_G331R,Missense_G389R,Missense_G224R,Missense_G399R exm1149941 15 41107907 [T/C] NM_001130143,NM_017726 PPP1R14D,PPP1R14D EXON Missense_G181S,Missense_R142Q exm1149947 15 41108163 [T/C] NM_001130143,NM_017726 PPP1R14D,PPP1R14D EXON Missense_Q162R,Synonymous_T123T exm1149960 15 41120830 [A/G] NM_001130143,NM_017726 PPP1R14D,PPP1R14D EXON Missense_S4P,Missense_S4P exm1149969 15 41137018 [A/G] NM_003710,NM_181642,NM_001032367 SPINT1,SPINT1,SPINT1 EXON Missense_R89H,Missense_R89H,Missense_R89H exm1149970 15 41137020 [A/G] NM_003710,NM_181642,NM_001032367 SPINT1,SPINT1,SPINT1 EXON Missense_A90T,Missense_A90T,Missense_A90T exm1149972 15 41137059 [A/G] NM_003710,NM_181642,NM_001032367 SPINT1,SPINT1,SPINT1 EXON Missense_E103K,Missense_E103K,Missense_E103K exm1149975 15 41137113 [A/T] NM_003710,NM_181642,NM_001032367 SPINT1,SPINT1,SPINT1 EXON Missense_C121S,Missense_C121S,Missense_C121S exm1149977 15 41137177 [C/G] NM_003710,NM_181642,NM_001032367 SPINT1,SPINT1,SPINT1 EXON Missense_T142R,Missense_T142R,Missense_T142R exm1149980 15 41145339 [T/G] NM_003710,NM_181642,NM_001032367 SPINT1,SPINT1,SPINT1 EXON Missense_A165S,Missense_A165S,Missense_A165S exm1149988 15 41145816 [A/C] NM_003710,NM_181642,NM_001032367 SPINT1,SPINT1,SPINT1 EXON Missense_Q245K,Missense_Q245K,Missense_Q245K exm1149992 15 41145978 [T/C] NM_003710,NM_181642,NM_001032367 SPINT1,SPINT1,SPINT1 EXON Missense_T271M,Missense_T271M,Missense_T271M exm1149994 15 41146001 [A/G] NM_003710,NM_181642,NM_001032367 SPINT1,SPINT1,SPINT1 EXON Missense_V279I,Missense_V279I,Missense_V279I exm1149998 15 41146082 [A/G] NM_003710,NM_181642,NM_001032367 SPINT1,SPINT1,SPINT1 EXON Silent,Missense_G306R,Silent exm1149999 15 41146113 [T/C] NM_003710,NM_181642,NM_001032367 SPINT1,SPINT1,SPINT1 EXON Silent,Missense_A316V,Silent exm1150007 15 41146616 [T/C] NM_003710,NM_181642,NM_001032367 SPINT1,SPINT1,SPINT1 EXON Missense_P321L,Missense_P337L,Missense_P321L exm1150016 15 41146721 [A/G] NM_003710,NM_181642,NM_001032367 SPINT1,SPINT1,SPINT1 Silent,Silent,Silent exm1150020 15 41146864 [A/G] NM_003710,NM_181642,NM_001032367 SPINT1,SPINT1,SPINT1 EXON Missense_R365H,Missense_R381H,Missense_R365H exm1150024 15 41148092 [T/C] NM_003710,NM_181642,NM_001032367 SPINT1,SPINT1,SPINT1 EXON Missense_H374Y,Missense_H390Y,Missense_H374Y exm1150026 15 41148138 [T/C] NM_003710,NM_181642,NM_001032367 SPINT1,SPINT1,SPINT1 EXON Missense_P389L,Missense_P405L,Missense_P389L exm1150032 15 41148177 [A/G] NM_003710,NM_181642,NM_001032367 SPINT1,SPINT1,SPINT1 EXON Missense_R402H,Missense_R418H,Missense_R402H exm1150038 15 41148239 [A/G] NM_003710,NM_181642,NM_001032367 SPINT1,SPINT1,SPINT1 EXON Missense_E423K,Missense_E439K,Missense_E423K exm2223237 15 41148498 [A/G] NM_003710,NM_181642,NM_001032367 SPINT1,SPINT1,SPINT1 EXON Missense_R438Q,Missense_R454Q,Missense_R438Q exm1150043 15 41148516 [A/G] NM_003710,NM_181642,NM_001032367 SPINT1,SPINT1,SPINT1 EXON Missense_S444N,Missense_S460N,Missense_S444N exm1150046 15 41148988 [A/G] NM_003710,NM_181642,NM_001032367 SPINT1,SPINT1,SPINT1 EXON Missense_A453T,Missense_A469T,Missense_A453T exm1150054 15 41149114 [A/G] NM_003710,NM_181642,NM_001032367 SPINT1,SPINT1,SPINT1 EXON Missense_V495I,Missense_V511I,Missense_V495I exm1150082 15 41186990 [T/C] NM_020857 VPS18 EXON Synonymous_Y8Y exm2252136 15 41186990 [T/C] NM_020857 VPS18 EXON Synonymous_Y8Y exm1150090 15 41188211 [A/G] NM_020857 VPS18 EXON Missense_R56H exm2267827 15 41190989 [A/G] NM_020857 VPS18 Silent exm1150098 15 41191155 [A/G] NM_020857 VPS18 EXON Missense_K95R exm1150100 15 41191163 [A/G] NM_020857 VPS18 EXON Missense_A98T exm1150104 15 41191521 [A/G] NM_020857 VPS18 EXON Missense_I169V exm1150111 15 41191614 [T/G] NM_020857 VPS18 EXON Missense_G200W exm1150123 15 41191717 [A/G] NM_020857 VPS18 EXON Missense_R234Q exm1150138 15 41192083 [A/G] NM_020857 VPS18 EXON Missense_R356Q exm1150155 15 41192326 [A/G] NM_020857 VPS18 EXON Missense_R437H exm2223239 15 41192719 [T/G] NM_020857 VPS18 EXON Missense_R568L exm1150172 15 41192839 [A/G] NM_020857 VPS18 EXON Missense_R608H exm1150181 15 41192973 [A/G] NM_020857 VPS18 EXON Missense_V653M exm1150183 15 41193033 [T/C] NM_020857 VPS18 EXON Missense_R673C exm1150201 15 41194872 [A/G] NM_020857 VPS18 EXON Missense_R752H exm1150204 15 41194971 [T/C] NM_020857 VPS18 EXON Missense_I785T exm1150209 15 41195079 [A/G] NM_020857 VPS18 EXON Missense_R821Q exm1150212 15 41195121 [A/G] NM_020857 VPS18 EXON Missense_R835Q exm1150231 15 41195483 [A/G] NM_020857 VPS18 EXON Missense_D956N exm1150244 15 41222183 [T/G] NM_019074 DLL4 EXON Missense_V69F exm1150262 15 41223901 [A/G] NM_019074 DLL4 EXON Missense_V199M exm1150269 15 41224538 [A/G] NM_019074 DLL4 EXON Missense_R248Q exm1150274 15 41226833 [A/G] NM_019074 DLL4 EXON Missense_R313H exm1150286 15 41227314 [T/C] NM_019074 DLL4 EXON Synonymous_N413N exm1150301 15 41228737 [A/G] NM_019074 DLL4 EXON Missense_E518K exm1829176 15 41228746 [A/G] NM_019074 DLL4 EXON Missense_V521M exm1150311 15 41229049 [G/C] NM_019074 DLL4 EXON Missense_L622V exm1150312 15 41229056 [A/G] NM_019074 DLL4 EXON Missense_R624Q exm2272231 15 41245289 [T/C] exm1150323 15 41245692 [A/G] NM_024111,NM_001142776 CHAC1,CHAC1 EXON Missense_R13G,Missense_R13G exm1150325 15 41245731 [A/G] NM_024111,NM_001142776 CHAC1,CHAC1 EXON Missense_A26T,Missense_A26T exm1150326 15 41245732 [T/C] NM_024111,NM_001142776 CHAC1,CHAC1 EXON Missense_A26V,Missense_A26V exm1150333 15 41245950 [A/G] NM_024111,NM_001142776 CHAC1,CHAC1 EXON Missense_V99M,Missense_V99M exm1150334 15 41245959 [T/C] NM_024111,NM_001142776 CHAC1,CHAC1 EXON Missense_Y102H,Missense_Y102H exm1150346 15 41247599 [T/C] NM_024111,NM_001142776 CHAC1,CHAC1 EXON Missense_V141A,Missense_V141A exm1150348 15 41247629 [A/G] NM_024111,NM_001142776 CHAC1,CHAC1 EXON Missense_K151R,Silent exm1150359 15 41247770 [T/C] NM_024111,NM_001142776 CHAC1,CHAC1 EXON Missense_A198V,Missense_A153V exm1150361 15 41247808 [T/C] NM_024111,NM_001142776 CHAC1,CHAC1 EXON Missense_R211W,Missense_R166W exm1150362 15 41247845 [A/G] NM_024111,NM_001142776 CHAC1,CHAC1 EXON Missense_R223H,Missense_R178H exm1150364 15 41247859 [T/A] NM_024111,NM_001142776 CHAC1,CHAC1 EXON Missense_M228L,Missense_M183L exm1150371 15 41247949 [A/G] NM_024111,NM_001142776 CHAC1,CHAC1 EXON Missense_E258K,Missense_E213K exm1150377 15 41272426 [A/G] NM_017553 INO80 EXON Missense_R1556W exm1150382 15 41272561 [A/T] NM_017553 INO80 EXON Missense_S1511T exm1150385 15 41272630 [T/C] NM_017553 INO80 EXON Missense_A1488T exm1150396 15 41275221 [A/C] NM_017553 INO80 EXON Missense_R1431L exm1150398 15 41275242 [C/G] NM_017553 INO80 EXON Missense_R1424P exm1150404 15 41276035 [G/C] NM_017553 INO80 EXON Missense_A1388P exm1150414 15 41276477 [A/G] NM_017553 INO80 EXON Missense_S1332L exm1150425 15 41277615 [T/C] NM_017553 INO80 EXON Missense_R1281Q exm1150432 15 41279384 [T/C] NM_017553 INO80 EXON Missense_R1246Q exm1150443 15 41308365 [A/C] NM_017553 INO80 EXON Missense_V1108G exm1150455 15 41319835 [A/G] NM_017553 INO80 EXON Missense_L1003F exm1150456 15 41319844 [A/G] NM_017553 INO80 EXON Missense_R1000C exm1150457 15 41319870 [T/C] NM_017553 INO80 EXON Missense_R991Q exm1150464 15 41337196 [T/C] NM_017553 INO80 EXON Missense_E938G exm1150465 15 41337197 [T/C] NM_017553 INO80 EXON Missense_E938K exm1150470 15 41339626 [T/C] NM_017553 INO80 EXON Missense_M905I exm1150473 15 41339697 [T/C] NM_017553 INO80 EXON Missense_I882V exm1150478 15 41341500 [T/C] NM_017553 INO80 EXON Missense_N854S exm1150479 15 41341524 [T/C] NM_017553 INO80 EXON Missense_R846H exm1150507 15 41364208 [A/G] NM_017553 INO80 EXON Missense_R482W exm1829279 15 41372087 [T/C] NM_017553 INO80 EXON Missense_M315V exm1150529 15 41384310 [T/C] NM_017553 INO80 EXON Missense_N151S exm1150541 15 41388381 [T/C] NM_017553 INO80 EXON Missense_N43S exm1150556 15 41476209 [T/C] NM_152596 EXD1 EXON Missense_T489A exm1150566 15 41476472 [G/C] NM_152596 EXD1 EXON Missense_G401A exm1829306 15 41476668 [A/G] NM_152596 EXD1 EXON Nonsense_Q336X exm1150582 15 41482167 [T/C] NM_152596 EXD1 EXON Missense_E284K exm1150591 15 41483640 [T/C] NM_152596 EXD1 EXON Synonymous_Q230Q exm1150605 15 41488231 [C/G] NM_152596 EXD1 EXON Missense_A122G exm1829316 15 41501721 [T/C] NM_152596 EXD1 EXON Missense_H113R exm1150611 15 41507997 [T/G] NM_152596 EXD1 EXON Missense_Q83H exm1829318 15 41508002 [T/G] NM_152596 EXD1 EXON Missense_N82H exm1150620 15 41509353 [T/C] NM_152596 EXD1 Silent exm1150623 15 41522678 [A/G] NM_152596 EXD1 EXON Synonymous_Y9Y exm1150657 15 41602014 [A/C] NM_007280 OIP5 EXON Missense_L210V exm1150660 15 41605479 [T/C] NM_007280 OIP5 EXON Missense_I196V exm1150661 15 41605508 [A/T] NM_007280 OIP5 EXON Missense_D186V exm1150665 15 41611874 [A/G] NM_007280 OIP5 EXON Missense_S165F exm1150697 15 41625168 [T/A] NM_001243142,NM_016359,NM_001243144,NM_001243143,NM_018454 NUSAP1,NUSAP1,NUSAP1,NUSAP1,NUSAP1 EXON Missense_S5T,Missense_S5T,Missense_S5T,Missense_S5T,Missense_S5T exm1150700 15 41634587 [A/G] NM_001243142,NM_016359,NM_001243144,NM_001243143,NM_018454 NUSAP1,NUSAP1,NUSAP1,NUSAP1,NUSAP1 EXON Missense_T33A,Missense_T33A,Silent,Missense_T33A,Missense_T33A exm1150707 15 41641432 [A/G] NM_001243142,NM_016359,NM_001243144,NM_001243143,NM_018454 NUSAP1,NUSAP1,NUSAP1,NUSAP1,NUSAP1 EXON Missense_D100G,Missense_D100G,Missense_D77G,Missense_D100G,Missense_D100G exm1829366 15 41643220 [A/C] NM_001243142,NM_016359,NM_001243144,NM_001243143,NM_018454 NUSAP1,NUSAP1,NUSAP1,NUSAP1,NUSAP1 EXON Missense_T113N,Missense_T114N,Missense_T91N,Silent,Missense_T114N exm1150721 15 41648326 [A/G] NM_001243142,NM_016359,NM_001243144,NM_001243143,NM_018454 NUSAP1,NUSAP1,NUSAP1,NUSAP1,NUSAP1 EXON Missense_I179V,Missense_I180V,Missense_I157V,Missense_I165V,Missense_I180V exm2223245 15 41650452 [T/C] NM_001243142,NM_016359,NM_001243144,NM_001243143,NM_018454 NUSAP1,NUSAP1,NUSAP1,NUSAP1,NUSAP1 EXON Missense_L218P,Missense_L219P,Missense_L196P,Missense_L204P,Missense_L219P exm1829371 15 41657607 [T/C] NM_001243142,NM_016359,NM_001243144,NM_001243143,NM_018454 NUSAP1,NUSAP1,NUSAP1,NUSAP1,NUSAP1 EXON Missense_P221L,Missense_P223L,Missense_P199L,Missense_P208L,Missense_P222L exm1150728 15 41657684 [T/C] NM_001243142,NM_016359,NM_001243144,NM_001243143,NM_018454 NUSAP1,NUSAP1,NUSAP1,NUSAP1,NUSAP1 EXON Nonsense_R247X,Nonsense_R249X,Nonsense_R225X,Nonsense_R234X,Nonsense_R248X exm1150739 15 41663789 [A/T] NM_001243142,NM_016359,NM_001243144,NM_001243143,NM_018454 NUSAP1,NUSAP1,NUSAP1,NUSAP1,NUSAP1 EXON Missense_S303T,Missense_S305T,Missense_S281T,Missense_S290T,Missense_S304T exm1150740 15 41663828 [A/G] NM_001243142,NM_016359,NM_001243144,NM_001243143,NM_018454 NUSAP1,NUSAP1,NUSAP1,NUSAP1,NUSAP1 EXON Missense_E316K,Missense_E318K,Missense_E294K,Missense_E303K,Missense_E317K exm1150744 15 41663859 [T/C] NM_001243142,NM_016359,NM_001243144,NM_001243143,NM_018454 NUSAP1,NUSAP1,NUSAP1,NUSAP1,NUSAP1 EXON Missense_T326I,Missense_T328I,Missense_T304I,Missense_T313I,Missense_T327I exm1150758 15 41669412 [A/G] NM_001243142,NM_016359,NM_001243144,NM_001243143,NM_018454 NUSAP1,NUSAP1,NUSAP1,NUSAP1,NUSAP1 EXON Missense_G379E,Missense_G381E,Missense_G318E,Missense_G366E,Missense_G380E exm1150766 15 41679668 [T/C] NR_045620,NM_016013 NDUFAF1,NDUFAF1 EXON Silent,Missense_E320K exm1150768 15 41679685 [G/C] NR_045620,NM_016013 NDUFAF1,NDUFAF1 EXON Silent,Missense_A314G exm1150769 15 41679701 [C/G] NR_045620,NM_016013 NDUFAF1,NDUFAF1 EXON Silent,Missense_H309D exm1829382 15 41679707 [T/G] NR_045620,NM_016013 NDUFAF1,NDUFAF1 EXON Silent,Missense_P307T exm1150772 15 41679732 [T/C] NR_045620,NM_016013 NDUFAF1,NDUFAF1 EXON Silent,Missense_I298M exm1150778 15 41687108 [T/C] NR_045620,NM_016013 NDUFAF1,NDUFAF1 EXON Silent,Missense_M236I exm1150780 15 41687124 [T/C] NR_045620,NM_016013 NDUFAF1,NDUFAF1 EXON Silent,Missense_Q231R exm1150786 15 41688700 [T/C] NR_045620,NM_016013 NDUFAF1,NDUFAF1 EXON Silent,Missense_I186M exm1150789 15 41688732 [T/C] NR_045620,NM_016013 NDUFAF1,NDUFAF1 EXON Silent,Missense_E176K exm1150798 15 41688890 [A/G] NR_045620,NM_016013 NDUFAF1,NDUFAF1 EXON Silent,Missense_V123A exm1150805 15 41689009 [A/T] NR_045620,NM_016013 NDUFAF1,NDUFAF1 EXON Silent,Missense_D83E exm1150808 15 41689059 [T/C] NR_045620,NM_016013 NDUFAF1,NDUFAF1 EXON Silent,Missense_V67I exm1150812 15 41689166 [A/C] NR_045620,NM_016013 NDUFAF1,NDUFAF1 EXON Silent,Missense_R31L exm1150817 15 41689232 [T/C] NR_045620,NM_016013 NDUFAF1,NDUFAF1 EXON Silent,Missense_R9H exm1150854 15 41762563 [A/G] NM_015138 RTF1 EXON Missense_R333Q exm1150859 15 41763491 [A/G] NM_015138 RTF1 EXON Missense_T383A exm1150870 15 41772510 [A/C] NM_015138 RTF1 EXON Missense_Q671H exm1150889 15 41793728 [A/G] NM_002220 ITPKA EXON Missense_Y186C exm1829426 15 41793943 [A/G] NM_002220 ITPKA EXON Missense_A233T exm1150901 15 41794328 [C/G] NM_002220 ITPKA EXON Missense_P313A exm1150906 15 41794693 [A/G] NM_002220 ITPKA EXON Missense_E368K exm2252138 15 41795054 [T/C] NM_002220 ITPKA EXON Synonymous_H393H exm1150921 15 41795333 [T/C] NM_002220 ITPKA EXON Missense_I452T exm1150922 15 41795336 [A/G] NM_002220 ITPKA EXON Missense_G453D exm1150935 15 41796352 [A/C] NM_001135685,NM_002344,NM_206961 LTK,LTK,LTK EXON Nonsense_E683X,Nonsense_E813X,Nonsense_E752X exm1150943 15 41796599 [T/C] NM_001135685,NM_002344,NM_206961 LTK,LTK,LTK EXON Missense_E633K,Missense_E763K,Missense_E702K exm1150950 15 41796779 [T/C] NM_001135685,NM_002344,NM_206961 LTK,LTK,LTK EXON Missense_R597H,Missense_R727H,Missense_R666H exm2276372 15 41797054 [G/C] NM_001135685,NM_002344,NM_206961 LTK,LTK,LTK EXON Missense_R549S,Missense_R679S,Missense_R618S exm1150958 15 41797058 [T/C] NM_001135685,NM_002344,NM_206961 LTK,LTK,LTK EXON Missense_R548H,Missense_R678H,Missense_R617H exm1150962 15 41797170 [T/C] NM_001135685,NM_002344,NM_206961 LTK,LTK,LTK EXON Missense_R543Q,Missense_R673Q,Missense_R612Q exm1150966 15 41797182 [T/C] NM_001135685,NM_002344,NM_206961 LTK,LTK,LTK EXON Missense_R539Q,Missense_R669Q,Missense_R608Q exm1150972 15 41797228 [T/C] NM_001135685,NM_002344,NM_206961 LTK,LTK,LTK EXON Missense_A524T,Missense_A654T,Missense_A593T exm1150974 15 41797230 [T/C] NM_001135685,NM_002344,NM_206961 LTK,LTK,LTK EXON Missense_C523Y,Missense_C653Y,Missense_C592Y exm1150975 15 41797248 [T/C] NM_001135685,NM_002344,NM_206961 LTK,LTK,LTK EXON Missense_R517Q,Missense_R647Q,Missense_R586Q exm1150977 15 41797252 [T/C] NM_001135685,NM_002344,NM_206961 LTK,LTK,LTK EXON Missense_A516T,Missense_A646T,Missense_A585T exm1150982 15 41797432 [T/G] NM_001135685,NM_002344,NM_206961 LTK,LTK,LTK EXON Nonsense_Y503X,Nonsense_Y633X,Nonsense_Y572X exm1150985 15 41797479 [A/G] NM_001135685,NM_002344,NM_206961 LTK,LTK,LTK EXON Missense_R488W,Missense_R618W,Missense_R557W exm1150993 15 41797721 [T/G] NM_001135685,NM_002344,NM_206961 LTK,LTK,LTK EXON Missense_R439S,Missense_R569S,Missense_R508S exm1151000 15 41798124 [T/C] NM_001135685,NM_002344,NM_206961 LTK,LTK,LTK EXON Silent,Missense_V541I,Missense_V480I exm1151002 15 41798189 [T/C] NM_001135685,NM_002344,NM_206961 LTK,LTK,LTK EXON Silent,Missense_G519D,Missense_G458D exm1829477 15 41799325 [A/G] NM_001135685,NM_002344,NM_206961 LTK,LTK,LTK EXON Nonsense_R404X,Synonymous_T503T,Synonymous_T442T exm1151008 15 41799387 [A/G] NM_001135685,NM_002344,NM_206961 LTK,LTK,LTK EXON Silent,Missense_P483S,Missense_P422S exm1151020 15 41799801 [C/G] NM_001135685,NM_002344,NM_206961 LTK,LTK,LTK EXON Nonsense_S374X,Nonsense_S435X,Nonsense_S374X exm2223250 15 41800366 [A/G] NM_001135685,NM_002344,NM_206961 LTK,LTK,LTK EXON Missense_C323R,Missense_C384R,Missense_C323R exm1151026 15 41800389 [C/G] NM_001135685,NM_002344,NM_206961 LTK,LTK,LTK EXON Missense_R315P,Missense_R376P,Missense_R315P exm1151040 15 41803754 [A/G] NM_001135685,NM_002344,NM_206961 LTK,LTK,LTK EXON Missense_P227L,Missense_P227L,Missense_P227L exm1151052 15 41804434 [A/T] NM_001135685,NM_002344,NM_206961 LTK,LTK,LTK EXON Missense_K130I,Missense_K130I,Missense_K130I exm1151064 15 41805237 [T/C] NM_001135685,NM_002344,NM_206961 LTK,LTK,LTK EXON Missense_R42Q,Missense_R42Q,Missense_R42Q exm1151066 15 41805278 [A/G] NM_001135685,NM_002344,NM_206961 LTK,LTK,LTK EXON Synonymous_F28F,Synonymous_F28F,Synonymous_F28F exm1151070 15 41805878 [C/G] NM_001135685,NM_002344,NM_206961 LTK,LTK,LTK EXON Missense_W10C,Missense_W10C,Missense_W10C exm1151081 15 41810019 [T/C] NM_015540 RPAP1 EXON Missense_K1337E exm1151085 15 41810286 [T/C] NM_015540 RPAP1 EXON Missense_R1297H exm1151087 15 41810346 [A/G] NM_015540 RPAP1 EXON Missense_P1277L exm1151101 15 41812738 [T/C] NM_015540 RPAP1 EXON Missense_D1216N exm1151102 15 41812752 [T/A] NM_015540 RPAP1 EXON Missense_Y1211F exm1151109 15 41812866 [A/G] NM_015540 RPAP1 EXON Missense_S1173F exm1151131 15 41813242 [T/C] NM_015540 RPAP1 EXON Missense_A1048T exm1151132 15 41813248 [T/C] NM_015540 RPAP1 EXON Missense_A1046T exm1151141 15 41813977 [A/C] NM_015540 RPAP1 EXON Missense_H999Q exm1151146 15 41814316 [C/G] NM_015540 RPAP1 EXON Missense_L959V exm2223253 15 41814376 [T/G] NM_015540 RPAP1 EXON Missense_H939N exm1151152 15 41814409 [A/G] NM_015540 RPAP1 EXON Missense_F928L exm1151154 15 41814429 [G/C] NM_015540 RPAP1 EXON Missense_A921G exm1151158 15 41815028 [A/G] NM_015540 RPAP1 EXON Missense_F893L exm1151159 15 41815063 [T/C] NM_015540 RPAP1 EXON Missense_R881H exm1151168 15 41815516 [C/G] NM_015540 RPAP1 EXON Missense_Q825E exm1151170 15 41815530 [T/C] NM_015540 RPAP1 EXON Nonsense_W820X exm1151171 15 41815539 [A/G] NM_015540 RPAP1 EXON Missense_P817L exm2252139 15 41815649 [A/G] NM_015540 RPAP1 Silent exm1151183 15 41816429 [T/C] NM_015540 RPAP1 EXON Missense_R700Q exm1151189 15 41817313 [A/G] NM_015540 RPAP1 EXON Missense_R651C exm1151192 15 41819100 [T/C] NM_015540 RPAP1 EXON Missense_R638Q exm1151193 15 41819109 [A/G] NM_015540 RPAP1 EXON Missense_I635T exm1151201 15 41819250 [T/C] NM_015540 RPAP1 EXON Missense_R588Q exm1151205 15 41819367 [T/C] NM_015540 RPAP1 EXON Missense_R582G exm1151206 15 41819432 [A/G] NM_015540 RPAP1 EXON Missense_A560V exm1151208 15 41819466 [A/G] NM_015540 RPAP1 EXON Missense_R549C exm1151212 15 41819716 [T/C] NM_015540 RPAP1 EXON Missense_E506K exm1151214 15 41819719 [T/C] NM_015540 RPAP1 EXON Missense_D505N exm1151215 15 41819772 [T/C] NM_015540 RPAP1 EXON Missense_H487R exm1151217 15 41820200 [T/C] NM_015540 RPAP1 EXON Missense_R429Q exm1151227 15 41822094 [A/T] NM_015540 RPAP1 EXON Missense_L343M exm1151228 15 41822163 [T/C] NM_015540 RPAP1 EXON Missense_V320M exm1151240 15 41827020 [T/C] NM_015540 RPAP1 EXON Missense_E219K exm1151247 15 41827128 [T/C] NM_015540 RPAP1 EXON Missense_V183M exm1151249 15 41827745 [A/G] NM_015540 RPAP1 EXON Missense_V169A exm1151250 15 41827757 [T/A] NM_015540 RPAP1 EXON Missense_K165M exm1151253 15 41828338 [A/G] NM_015540 RPAP1 EXON Missense_R137W exm1151256 15 41828377 [G/C] NM_015540 RPAP1 EXON Missense_P124A exm1151259 15 41828413 [A/G] NM_015540 RPAP1 EXON Nonsense_R112X exm1151265 15 41829178 [A/G] NM_015540 RPAP1 EXON Missense_P49L exm1829590 15 41829184 [T/C] NM_015540 RPAP1 EXON Missense_R47Q exm1151266 15 41829185 [A/G] NM_015540 RPAP1 EXON Missense_R47W exm2252140 15 41829243 [T/G] NM_015540 RPAP1 EXON Synonymous_A27A exm1151273 15 41829264 [A/C] NM_015540 RPAP1 EXON Missense_Q20H exm1151274 15 41829267 [A/C] NM_015540 RPAP1 EXON Missense_S19R exm1151277 15 41829316 [A/G] NM_015540 RPAP1 EXON Missense_S3L exm1151282 15 41853402 [C/G] NM_006293 TYRO3 EXON Missense_G68R exm2223257 15 41853422 [C/G] NM_006293 TYRO3 EXON Missense_I74M exm1151309 15 41856401 [A/G] NM_006293 TYRO3 EXON Missense_M200I exm1151323 15 41857307 [A/G] NM_006293 TYRO3 EXON Missense_G251S exm1151343 15 41860450 [T/C] NM_006293 TYRO3 EXON Missense_R333C exm1151356 15 41861163 [A/G] NM_006293 TYRO3 EXON Missense_A399T exm1151359 15 41861214 [T/C] NM_006293 TYRO3 EXON Missense_R416C exm1151366 15 41862348 [A/G] NM_006293 TYRO3 EXON Missense_R459Q exm1151367 15 41862356 [T/C] NM_006293 TYRO3 Silent exm1151369 15 41862457 [A/G] NM_006293 TYRO3 EXON Missense_M468V exm1151374 15 41862515 [A/G] NM_006293 TYRO3 EXON Missense_R487K exm1151375 15 41862520 [A/G] NM_006293 TYRO3 EXON Missense_E489K exm1151377 15 41862540 [T/G] NM_006293 TYRO3 Silent exm1151378 15 41862801 [T/G] NM_006293 TYRO3 Silent exm1151398 15 41864746 [T/C] NM_006293 TYRO3 EXON Missense_I620T exm1151399 15 41864763 [A/G] NM_006293 TYRO3 Silent exm1151410 15 41865525 [T/G] NM_006293 TYRO3 EXON Missense_V669L exm1151411 15 41865543 [A/G] NM_006293 TYRO3 EXON Missense_G675R exm1151413 15 41865588 [T/C] NM_006293 TYRO3 EXON Missense_C690R exm1151436 15 41870245 [T/C] NM_006293 TYRO3 EXON Missense_A815V exm1151440 15 41870326 [A/G] NM_006293 TYRO3 EXON Missense_G842D exm1151451 15 41961113 [T/G] NM_001164273,NM_001080541 MGA,MGA EXON Missense_I7M,Missense_I7M exm1151461 15 41961299 [T/G] NM_001164273,NM_001080541 MGA,MGA EXON Missense_D69E,Missense_D69E exm1151472 15 41962080 [C/G] NM_001164273,NM_001080541 MGA,MGA EXON Missense_R330G,Missense_R330G exm1151489 15 41988305 [A/G] NM_001164273,NM_001080541 MGA,MGA EXON Missense_R366H,Missense_R366H exm1151490 15 41988331 [A/G] NM_001164273,NM_001080541 MGA,MGA EXON Missense_G375R,Missense_G375R exm1151491 15 41988409 [A/G] NM_001164273,NM_001080541 MGA,MGA EXON Missense_T401A,Missense_T401A exm1151498 15 41988638 [C/G] NM_001164273,NM_001080541 MGA,MGA EXON Missense_T477S,Missense_T477S exm1151499 15 41988709 [A/G] NM_001164273,NM_001080541 MGA,MGA EXON Missense_M501V,Missense_M501V exm1151503 15 41988834 [A/T] NM_001164273,NM_001080541 MGA,MGA EXON Missense_K542N,Missense_K542N exm1151510 15 41989003 [A/G] NM_001164273,NM_001080541 MGA,MGA EXON Missense_V599I,Missense_V599I exm1151511 15 41989025 [T/C] NM_001164273,NM_001080541 MGA,MGA EXON Missense_A606V,Missense_A606V exm1151513 15 41989091 [A/C] NM_001164273,NM_001080541 MGA,MGA EXON Missense_P628Q,Missense_P628Q exm1151522 15 41991134 [A/G] NM_001164273,NM_001080541 MGA,MGA EXON Missense_D696G,Missense_D696G exm1151526 15 41991300 [T/A] NM_001164273,NM_001080541 MGA,MGA EXON Missense_I711L,Missense_I711L exm1151527 15 41991315 [T/A] NM_001164273,NM_001080541 MGA,MGA EXON Missense_T716S,Missense_T716S exm1151529 15 41999944 [T/C] NM_001164273,NM_001080541 MGA,MGA EXON Missense_S736L,Missense_S736L exm1151532 15 42000043 [A/C] NM_001164273,NM_001080541 MGA,MGA EXON Missense_N769T,Missense_N769T exm1151537 15 42000391 [A/G] NM_001164273,NM_001080541 MGA,MGA EXON Missense_A804T,Missense_A804T exm1151548 15 42003317 [A/G] NM_001164273,NM_001080541 MGA,MGA EXON Missense_N952D,Missense_N952D exm1151572 15 42021512 [T/C] NM_001164273,NM_001080541 MGA,MGA EXON Missense_C1270R,Missense_C1270R exm2276373 15 42021540 [A/C] NM_001164273,NM_001080541 MGA,MGA EXON Missense_N1279T,Missense_N1279T exm1151576 15 42028397 [C/G] NM_001164273,NM_001080541 MGA,MGA EXON Missense_S1312C,Missense_S1312C exm1151581 15 42028697 [C/G] NM_001164273,NM_001080541 MGA,MGA EXON Missense_S1412C,Missense_S1412C exm1151585 15 42028805 [A/G] NM_001164273,NM_001080541 MGA,MGA EXON Missense_K1448R,Missense_K1448R exm1151586 15 42028820 [A/G] NM_001164273,NM_001080541 MGA,MGA EXON Missense_Y1453C,Missense_Y1453C exm1151596 15 42032326 [A/G] NM_001164273,NM_001080541 MGA,MGA EXON Missense_A1504T,Missense_A1504T exm1151597 15 42032354 [A/G] NM_001164273,NM_001080541 MGA,MGA EXON Missense_R1513H,Missense_R1513H exm1151599 15 42032383 [C/G] NM_001164273,NM_001080541 MGA,MGA EXON Missense_P1523A,Missense_P1523A exm1151611 15 42035028 [A/G] NM_001164273,NM_001080541 MGA,MGA EXON Missense_K1624E,Silent exm1151617 15 42040838 [A/C] NM_001164273,NM_001080541 MGA,MGA EXON Missense_N1739T,Missense_N1530T exm1151619 15 42040862 [A/C] NM_001164273,NM_001080541 MGA,MGA EXON Missense_T1747N,Missense_T1538N exm1151626 15 42041091 [T/G] NM_001164273,NM_001080541 MGA,MGA EXON Missense_Q1823H,Missense_Q1614H exm1151637 15 42041680 [A/G] NM_001164273,NM_001080541 MGA,MGA EXON Missense_I1959V,Missense_I1750V exm1151640 15 42041723 [A/G] NM_001164273,NM_001080541 MGA,MGA EXON Missense_Q1973R,Missense_Q1764R exm1151642 15 42041750 [A/G] NM_001164273,NM_001080541 MGA,MGA EXON Missense_N1982S,Missense_N1773S exm1151645 15 42041782 [T/G] NM_001164273,NM_001080541 MGA,MGA EXON Missense_V1993F,Missense_V1784F exm1151653 15 42042025 [T/C] NM_001164273,NM_001080541 MGA,MGA EXON Missense_R2074C,Missense_R1865C exm1151655 15 42042070 [A/G] NM_001164273,NM_001080541 MGA,MGA EXON Missense_I2089V,Missense_I1880V exm1151673 15 42042685 [T/G] NM_001164273,NM_001080541 MGA,MGA EXON Missense_A2294S,Missense_A2085S exm2252141 15 42046730 [A/G] NM_001164273,NM_001080541 MGA,MGA EXON Synonymous_K2368K,Synonymous_K2159K exm1151688 15 42052567 [A/G] NM_001164273,NM_001080541 MGA,MGA EXON Missense_K2413R,Missense_K2204R exm1151697 15 42054450 [A/G] NM_001164273,NM_001080541 MGA,MGA EXON Missense_S2545N,Missense_S2336N exm1151701 15 42057152 [T/C] NM_001164273,NM_001080541 MGA,MGA EXON Missense_L2605F,Missense_L2396F exm1151716 15 42058553 [C/G] NM_001164273,NM_001080541 MGA,MGA EXON Missense_W2758S,Missense_W2549S exm1151723 15 42058763 [A/G] NM_001164273,NM_001080541 MGA,MGA EXON Missense_N2828S,Missense_N2619S exm1151729 15 42058859 [A/G] NM_001164273,NM_001080541 MGA,MGA EXON Missense_R2860Q,Missense_R2651Q exm1151733 15 42058952 [A/C] NM_001164273,NM_001080541 MGA,MGA EXON Missense_Q2891P,Missense_Q2682P exm1151734 15 42058958 [A/C] NM_001164273,NM_001080541 MGA,MGA EXON Missense_E2893A,Missense_E2684A exm2252142 15 42058983 [G/C] NM_001164273,NM_001080541 MGA,MGA EXON Synonymous_L2901L,Synonymous_L2692L exm1151752 15 42059342 [T/C] NM_001164273,NM_001080541 MGA,MGA EXON Missense_V3021A,Missense_V2812A exm1151754 15 42059386 [A/G] NM_001164273,NM_001080541 MGA,MGA EXON Missense_E3036K,Missense_E2827K exm1151774 15 42103137 [A/G] NM_014994,NR_049762,NM_001265611,NM_001128608,NR_049761 MAPKBP1,MAPKBP1,MAPKBP1,MAPKBP1,MAPKBP1 EXON Missense_S88N,Silent,Missense_S88N,Missense_S88N,Silent exm1151784 15 42104243 [T/G] NM_014994,NR_049762,NM_001265611,NM_001128608,NR_049761 MAPKBP1,MAPKBP1,MAPKBP1,MAPKBP1,MAPKBP1 EXON Missense_C139F,Silent,Missense_C139F,Missense_C139F,Silent exm1151788 15 42104305 [A/G] NM_014994,NR_049762,NM_001265611,NM_001128608,NR_049761 MAPKBP1,MAPKBP1,MAPKBP1,MAPKBP1,MAPKBP1 EXON Missense_V160I,Silent,Missense_V160I,Missense_V160I,Silent exm1151789 15 42104309 [A/G] NM_014994,NR_049762,NM_001265611,NM_001128608,NR_049761 MAPKBP1,MAPKBP1,MAPKBP1,MAPKBP1,MAPKBP1 EXON Missense_N161S,Silent,Missense_N161S,Missense_N161S,Silent exm1151806 15 42105888 [T/C] NM_014994,NR_049762,NM_001265611,NM_001128608,NR_049761 MAPKBP1,MAPKBP1,MAPKBP1,MAPKBP1,MAPKBP1 EXON Missense_R297C,Silent,Missense_R297C,Missense_R303C,Silent exm1151807 15 42105918 [G/C] NM_014994,NR_049762,NM_001265611,NM_001128608,NR_049761 MAPKBP1,MAPKBP1,MAPKBP1,MAPKBP1,MAPKBP1 EXON Missense_L307V,Silent,Missense_L307V,Missense_L313V,Silent exm1151809 15 42105934 [A/G] NM_014994,NR_049762,NM_001265611,NM_001128608,NR_049761 MAPKBP1,MAPKBP1,MAPKBP1,MAPKBP1,MAPKBP1 EXON Missense_R312Q,Silent,Missense_R312Q,Missense_R318Q,Silent exm1151816 15 42106780 [A/G] NM_014994,NR_049762,NM_001265611,NM_001128608,NR_049761 MAPKBP1,MAPKBP1,MAPKBP1,MAPKBP1,MAPKBP1 EXON Missense_Y338C,Silent,Missense_Y338C,Missense_Y344C,Silent exm1151820 15 42106923 [A/G] NM_014994,NR_049762,NM_001265611,NM_001128608,NR_049761 MAPKBP1,MAPKBP1,MAPKBP1,MAPKBP1,MAPKBP1 EXON Missense_V386I,Silent,Missense_V386I,Missense_V392I,Silent exm1151825 15 42107578 [T/C] NM_014994,NR_049762,NM_001265611,NM_001128608,NR_049761 MAPKBP1,MAPKBP1,MAPKBP1,MAPKBP1,MAPKBP1 EXON Missense_T431I,Silent,Missense_T431I,Missense_T437I,Silent exm1151829 15 42107924 [A/G] NM_014994,NR_049762,NM_001265611,NM_001128608,NR_049761 MAPKBP1,MAPKBP1,MAPKBP1,MAPKBP1,MAPKBP1 EXON Missense_V474M,Silent,Missense_V474M,Missense_V480M,Silent exm1151832 15 42108794 [T/G] NM_014994,NR_049762,NM_001265611,NM_001128608,NR_049761 MAPKBP1,MAPKBP1,MAPKBP1,MAPKBP1,MAPKBP1 EXON Missense_V511L,Silent,Missense_V511L,Missense_V517L,Silent exm1151836 15 42109195 [A/G] NM_014994,NR_049762,NM_001265611,NM_001128608,NR_049761 MAPKBP1,MAPKBP1,MAPKBP1,MAPKBP1,MAPKBP1 EXON Missense_D558G,Silent,Missense_D558G,Missense_D564G,Silent exm1151853 15 42110272 [T/C] NM_014994,NR_049762,NM_001265611,NM_001128608,NR_049761 MAPKBP1,MAPKBP1,MAPKBP1,MAPKBP1,MAPKBP1 EXON Missense_T657I,Silent,Missense_T657I,Missense_T663I,Silent exm1151862 15 42111100 [T/C] NM_014994,NR_049762,NM_001265611,NM_001128608,NR_049761 MAPKBP1,MAPKBP1,MAPKBP1,MAPKBP1,MAPKBP1 EXON Missense_R746W,Silent,Missense_R746W,Missense_R752W,Silent exm1151868 15 42111514 [A/G] NM_014994,NR_049762,NM_001265611,NM_001128608,NR_049761 MAPKBP1,MAPKBP1,MAPKBP1,MAPKBP1,MAPKBP1 EXON Missense_E788K,Silent,Missense_E788K,Missense_E794K,Silent exm1151880 15 42111846 [T/C] NM_014994,NR_049762,NM_001265611,NM_001128608,NR_049761 MAPKBP1,MAPKBP1,MAPKBP1,MAPKBP1,MAPKBP1 EXON Missense_R827W,Silent,Missense_R827W,Missense_R833W,Silent exm1151885 15 42113067 [A/C] NM_014994,NR_049762,NM_001265611,NM_001128608,NR_049761 MAPKBP1,MAPKBP1,MAPKBP1,MAPKBP1,MAPKBP1 EXON Missense_A840E,Silent,Missense_A840E,Missense_A846E,Silent exm1151889 15 42113196 [T/C] NM_014994,NR_049762,NM_001265611,NM_001128608,NR_049761 MAPKBP1,MAPKBP1,MAPKBP1,MAPKBP1,MAPKBP1 EXON Missense_S883L,Silent,Missense_S883L,Missense_S889L,Silent exm1829782 15 42113822 [C/G] NM_014994,NR_049762,NM_001265611,NM_001128608,NR_049761 MAPKBP1,MAPKBP1,MAPKBP1,MAPKBP1,MAPKBP1 EXON Missense_S920C,Silent,Missense_S920C,Missense_S926C,Silent exm1151904 15 42114189 [A/G] NM_014994,NR_049762,NM_001265611,NM_001128608,NR_049761 MAPKBP1,MAPKBP1,MAPKBP1,MAPKBP1,MAPKBP1 EXON Missense_R971Q,Silent,Missense_R971Q,Missense_R977Q,Silent exm1151906 15 42114219 [A/G] NM_014994,NR_049762,NM_001265611,NM_001128608,NR_049761 MAPKBP1,MAPKBP1,MAPKBP1,MAPKBP1,MAPKBP1 EXON Missense_S981N,Silent,Missense_S981N,Missense_S987N,Silent exm1151911 15 42114423 [A/C] NM_014994,NR_049762,NM_001265611,NM_001128608,NR_049761 MAPKBP1,MAPKBP1,MAPKBP1,MAPKBP1,MAPKBP1 EXON Missense_D1011A,Silent,Missense_D1011A,Missense_D1017A,Silent exm1151932 15 42115262 [T/C] NM_014994,NR_049762,NM_001265611,NM_001128608,NR_049761 MAPKBP1,MAPKBP1,MAPKBP1,MAPKBP1,MAPKBP1 EXON Missense_P1147L,Silent,Silent,Missense_P1153L,Silent exm1151942 15 42115695 [T/C] NM_014994,NR_049762,NM_001265611,NM_001128608,NR_049761 MAPKBP1,MAPKBP1,MAPKBP1,MAPKBP1,MAPKBP1 EXON Missense_R1217W,Silent,Silent,Missense_R1223W,Silent exm1151946 15 42115747 [G/C] NM_014994,NR_049762,NM_001265611,NM_001128608,NR_049761 MAPKBP1,MAPKBP1,MAPKBP1,MAPKBP1,MAPKBP1 EXON Missense_R1234P,Silent,Silent,Missense_R1240P,Silent exm1829803 15 42115750 [T/C] NM_014994,NR_049762,NM_001265611,NM_001128608,NR_049761 MAPKBP1,MAPKBP1,MAPKBP1,MAPKBP1,MAPKBP1 EXON Missense_P1235L,Silent,Silent,Missense_P1241L,Silent exm1151963 15 42116069 [C/G] NM_014994,NR_049762,NM_001265611,NM_001128608,NR_049761 MAPKBP1,MAPKBP1,MAPKBP1,MAPKBP1,MAPKBP1 EXON Missense_L1341F,Silent,Silent,Missense_L1347F,Silent exm1151964 15 42116076 [T/G] NM_014994,NR_049762,NM_001265611,NM_001128608,NR_049761 MAPKBP1,MAPKBP1,MAPKBP1,MAPKBP1,MAPKBP1 EXON Missense_G1344C,Silent,Silent,Missense_G1350C,Silent exm1151965 15 42116128 [A/G] NM_014994,NR_049762,NM_001265611,NM_001128608,NR_049761 MAPKBP1,MAPKBP1,MAPKBP1,MAPKBP1,MAPKBP1 EXON Missense_S1361N,Silent,Silent,Missense_S1367N,Silent exm1151976 15 42116733 [A/G] NM_014994,NR_049762,NM_001265611,NM_001128608,NR_049761 MAPKBP1,MAPKBP1,MAPKBP1,MAPKBP1,MAPKBP1 EXON Missense_G1422D,Silent,Missense_G1145D,Missense_G1428D,Silent exm2223266 15 42116750 [T/G] NM_014994,NR_049762,NM_001265611,NM_001128608,NR_049761 MAPKBP1,MAPKBP1,MAPKBP1,MAPKBP1,MAPKBP1 EXON Missense_V1428L,Silent,Missense_V1151L,Missense_V1434L,Silent exm1151981 15 42117419 [A/C] NM_014994,NR_049762,NM_001265611,NM_001128608,NR_049761 MAPKBP1,MAPKBP1,MAPKBP1,MAPKBP1,MAPKBP1 EXON Missense_K1438Q,Silent,Missense_K1161Q,Missense_K1444Q,Silent exm1151982 15 42117432 [T/C] NM_014994,NR_049762,NM_001265611,NM_001128608,NR_049761 MAPKBP1,MAPKBP1,MAPKBP1,MAPKBP1,MAPKBP1 EXON Missense_A1442V,Silent,Missense_A1165V,Missense_A1448V,Silent exm1151991 15 42117627 [A/G] NM_014994,NR_049762,NM_001265611,NM_001128608,NR_049761 MAPKBP1,MAPKBP1,MAPKBP1,MAPKBP1,MAPKBP1 EXON Missense_K1507R,Silent,Missense_K1230R,Missense_K1513R,Silent exm1151995 15 42120372 [T/C] NM_005090,NM_001198588,NM_001114632 JMJD7-PLA2G4B,JMJD7-PLA2G4B,JMJD7 EXON Missense_P17L,Missense_P17L,Missense_P17L exm1151999 15 42126939 [T/G] NM_005090,NM_001198588,NM_001114632 JMJD7-PLA2G4B,JMJD7-PLA2G4B,JMJD7 EXON Missense_E22D,Missense_E22D,Missense_E22D exm1152001 15 42126956 [G/C] NM_005090,NM_001198588,NM_001114632 JMJD7-PLA2G4B,JMJD7-PLA2G4B,JMJD7 EXON Missense_A28G,Missense_A28G,Missense_A28G exm1829815 15 42126998 [A/G] NM_005090,NM_001198588,NM_001114632 JMJD7-PLA2G4B,JMJD7-PLA2G4B,JMJD7 EXON Missense_Y42C,Missense_Y42C,Missense_Y42C exm1152010 15 42127202 [A/G] NM_005090,NM_001198588,NM_001114632 JMJD7-PLA2G4B,JMJD7-PLA2G4B,JMJD7 EXON Missense_V85M,Missense_V85M,Missense_V85M exm1152011 15 42127221 [T/C] NM_005090,NM_001198588,NM_001114632 JMJD7-PLA2G4B,JMJD7-PLA2G4B,JMJD7 EXON Missense_A91V,Missense_A91V,Missense_A91V exm1152017 15 42127292 [A/G] NM_005090,NM_001198588,NM_001114632 JMJD7-PLA2G4B,JMJD7-PLA2G4B,JMJD7 EXON Missense_V115M,Missense_V115M,Missense_V115M exm1152022 15 42127377 [T/G] NM_005090,NM_001198588,NM_001114632 JMJD7-PLA2G4B,JMJD7-PLA2G4B,JMJD7 EXON Missense_L143R,Missense_L143R,Missense_L143R exm1152025 15 42127420 [T/G] NM_005090,NM_001198588,NM_001114632 JMJD7-PLA2G4B,JMJD7-PLA2G4B,JMJD7 EXON Synonymous_L157L,Synonymous_L157L,Synonymous_L157L exm1152037 15 42128373 [A/G] NM_005090,NM_001198588,NM_001114632 JMJD7-PLA2G4B,JMJD7-PLA2G4B,JMJD7 EXON Missense_Y186C,Missense_Y186C,Missense_Y186C exm1152044 15 42128423 [T/C] NM_005090,NM_001198588,NM_001114632 JMJD7-PLA2G4B,JMJD7-PLA2G4B,JMJD7 EXON Missense_R203W,Missense_R203W,Missense_R203W exm1152045 15 42128432 [A/G] NM_005090,NM_001198588,NM_001114632 JMJD7-PLA2G4B,JMJD7-PLA2G4B,JMJD7 EXON Missense_I206V,Missense_I206V,Missense_I206V exm1152047 15 42128697 [A/G] NM_005090,NM_001198588,NM_001114632 JMJD7-PLA2G4B,JMJD7-PLA2G4B,JMJD7 EXON Missense_Q217R,Missense_Q217R,Missense_Q217R exm1152058 15 42129054 [T/C] NM_005090,NM_001198588,NM_001114632 JMJD7-PLA2G4B,JMJD7-PLA2G4B,JMJD7 EXON Silent,Silent,Missense_R260C exm1152059 15 42129055 [A/G] NM_005090,NM_001198588,NM_001114632 JMJD7-PLA2G4B,JMJD7-PLA2G4B,JMJD7 EXON Silent,Silent,Missense_R260H exm1152060 15 42129061 [T/C] NM_005090,NM_001198588,NM_001114632 JMJD7-PLA2G4B,JMJD7-PLA2G4B,JMJD7 EXON Silent,Silent,Missense_T262M exm1152064 15 42129118 [A/G] NM_005090,NM_001198588,NM_001114632 JMJD7-PLA2G4B,JMJD7-PLA2G4B,JMJD7 EXON Silent,Silent,Missense_Q281R exm1152075 15 42132725 [T/C] NM_005090,NM_001198588,NM_001114633 JMJD7-PLA2G4B,JMJD7-PLA2G4B,PLA2G4B EXON Missense_T260I,Missense_T260I,Missense_T29I exm1152077 15 42132740 [A/G] NM_005090,NM_001198588,NM_001114633 JMJD7-PLA2G4B,JMJD7-PLA2G4B,PLA2G4B EXON Missense_Y265C,Missense_Y265C,Missense_Y34C exm1152082 15 42132791 [T/C] NM_005090,NM_001198588,NM_001114633 JMJD7-PLA2G4B,JMJD7-PLA2G4B,PLA2G4B EXON Missense_T282M,Missense_T282M,Missense_T51M exm1152097 15 42133060 [A/G] NM_005090,NM_001198588,NM_001114633 JMJD7-PLA2G4B,JMJD7-PLA2G4B,PLA2G4B EXON Missense_R334Q,Missense_R334Q,Missense_R103Q exm1829859 15 42133086 [T/G] NM_005090,NM_001198588,NM_001114633 JMJD7-PLA2G4B,JMJD7-PLA2G4B,PLA2G4B EXON Missense_F343V,Missense_F343V,Missense_F112V exm1152106 15 42133436 [T/C] NM_005090,NM_001198588,NM_001114633 JMJD7-PLA2G4B,JMJD7-PLA2G4B,PLA2G4B EXON Missense_R365C,Missense_R365C,Missense_R134C exm1152111 15 42133463 [A/G] NM_005090,NM_001198588,NM_001114633 JMJD7-PLA2G4B,JMJD7-PLA2G4B,PLA2G4B EXON Missense_V374I,Missense_V374I,Missense_V143I exm1152121 15 42133739 [A/G] NM_005090,NM_001198588,NM_001114633 JMJD7-PLA2G4B,JMJD7-PLA2G4B,PLA2G4B EXON Missense_V385I,Missense_V385I,Missense_V154I exm1152129 15 42134065 [T/C] NM_005090,NM_001198588,NM_001114633 JMJD7-PLA2G4B,JMJD7-PLA2G4B,PLA2G4B EXON Missense_P411L,Missense_P411L,Missense_P180L exm1152134 15 42134097 [T/C] NM_005090,NM_001198588,NM_001114633 JMJD7-PLA2G4B,JMJD7-PLA2G4B,PLA2G4B EXON Missense_R422C,Missense_R422C,Missense_R191C exm1152135 15 42134139 [T/C] NM_005090,NM_001198588,NM_001114633 JMJD7-PLA2G4B,JMJD7-PLA2G4B,PLA2G4B EXON Missense_R436C,Missense_R436C,Missense_R205C exm1152137 15 42134416 [T/C] NM_005090,NM_001198588,NM_001114633 JMJD7-PLA2G4B,JMJD7-PLA2G4B,PLA2G4B EXON Missense_A447V,Missense_A447V,Missense_A216V exm1152138 15 42134452 [T/G] NM_005090,NM_001198588,NM_001114633 JMJD7-PLA2G4B,JMJD7-PLA2G4B,PLA2G4B EXON Missense_R459M,Missense_R459M,Missense_R228M exm1152139 15 42134457 [C/G] NM_005090,NM_001198588,NM_001114633 JMJD7-PLA2G4B,JMJD7-PLA2G4B,PLA2G4B EXON Missense_V461L,Missense_V461L,Missense_V230L exm2223268 15 42134763 [A/G] NM_005090,NM_001198588,NM_001114633 JMJD7-PLA2G4B,JMJD7-PLA2G4B,PLA2G4B EXON Missense_M470I,Missense_M470I,Missense_M239I exm1152148 15 42134767 [T/G] NM_005090,NM_001198588,NM_001114633 JMJD7-PLA2G4B,JMJD7-PLA2G4B,PLA2G4B EXON Missense_V472L,Missense_V472L,Missense_V241L exm1152154 15 42135893 [T/C] NM_005090,NM_001198588,NM_001114633 JMJD7-PLA2G4B,JMJD7-PLA2G4B,PLA2G4B EXON Nonsense_R486X,Nonsense_R486X,Nonsense_R255X exm1152169 15 42136708 [T/C] NM_005090,NM_001198588,NM_001114633 JMJD7-PLA2G4B,JMJD7-PLA2G4B,PLA2G4B EXON Missense_R538W,Missense_R538W,Missense_R307W exm1152173 15 42136771 [A/G] NM_005090,NM_001198588,NM_001114633 JMJD7-PLA2G4B,JMJD7-PLA2G4B,PLA2G4B EXON Missense_V559I,Missense_V559I,Missense_V328I exm1152177 15 42137152 [T/G] NM_005090,NM_001198588,NM_001114633 JMJD7-PLA2G4B,JMJD7-PLA2G4B,PLA2G4B EXON Missense_A606S,Missense_A606S,Missense_A375S exm1152179 15 42137161 [T/C] NM_005090,NM_001198588,NM_001114633 JMJD7-PLA2G4B,JMJD7-PLA2G4B,PLA2G4B EXON Nonsense_Q609X,Nonsense_Q609X,Nonsense_Q378X exm1152180 15 42137176 [T/C] NM_005090,NM_001198588,NM_001114633 JMJD7-PLA2G4B,JMJD7-PLA2G4B,PLA2G4B EXON Missense_R614W,Missense_R614W,Missense_R383W exm1152182 15 42137201 [A/G] NM_005090,NM_001198588,NM_001114633 JMJD7-PLA2G4B,JMJD7-PLA2G4B,PLA2G4B EXON Missense_R622H,Missense_R622H,Missense_R391H exm1152183 15 42137216 [C/G] NM_005090,NM_001198588,NM_001114633 JMJD7-PLA2G4B,JMJD7-PLA2G4B,PLA2G4B EXON Missense_S627T,Missense_S627T,Missense_S396T exm1152185 15 42137246 [A/G] NM_005090,NM_001198588,NM_001114633 JMJD7-PLA2G4B,JMJD7-PLA2G4B,PLA2G4B EXON Missense_N637S,Missense_N637S,Missense_N406S exm1152197 15 42137875 [A/G] NM_005090,NM_001198588,NM_001114633 JMJD7-PLA2G4B,JMJD7-PLA2G4B,PLA2G4B EXON Missense_K697R,Missense_K697R,Missense_K466R exm1152213 15 42138422 [T/G] NM_005090,NM_001198588,NM_001114633 JMJD7-PLA2G4B,JMJD7-PLA2G4B,PLA2G4B EXON Missense_L772R,Missense_L772R,Missense_L541R exm1152214 15 42138443 [T/C] NM_005090,NM_001198588,NM_001114633 JMJD7-PLA2G4B,JMJD7-PLA2G4B,PLA2G4B EXON Missense_S779L,Missense_S779L,Missense_S548L exm1152219 15 42138485 [T/C] NM_005090,NM_001198588,NM_001114633 JMJD7-PLA2G4B,JMJD7-PLA2G4B,PLA2G4B EXON Missense_T793M,Missense_T793M,Missense_T562M exm1152222 15 42138491 [A/G] NM_005090,NM_001198588,NM_001114633 JMJD7-PLA2G4B,JMJD7-PLA2G4B,PLA2G4B EXON Missense_R795H,Missense_R795H,Missense_R564H exm1152225 15 42138572 [T/C] NM_005090,NM_001198588,NM_001114633 JMJD7-PLA2G4B,JMJD7-PLA2G4B,PLA2G4B EXON Missense_T822I,Missense_T822I,Missense_T591I exm1152235 15 42139554 [A/G] NM_005090,NM_001198588,NM_001114633 JMJD7-PLA2G4B,JMJD7-PLA2G4B,PLA2G4B EXON Missense_R887Q,Silent,Missense_R656Q exm1152251 15 42139703 [T/C] NM_005090,NM_001198588,NM_001114633 JMJD7-PLA2G4B,JMJD7-PLA2G4B,PLA2G4B EXON Missense_R937W,Silent,Missense_R706W exm1152252 15 42139713 [T/C] NM_005090,NM_001198588,NM_001114633 JMJD7-PLA2G4B,JMJD7-PLA2G4B,PLA2G4B EXON Missense_S940L,Silent,Missense_S709L exm1152257 15 42139863 [T/C] NM_005090,NM_001198588,NM_001114633 JMJD7-PLA2G4B,JMJD7-PLA2G4B,PLA2G4B EXON Synonymous_P948P,Missense_P886L,Synonymous_P717P exm1152260 15 42139875 [A/G] NM_005090,NM_001198588,NM_001114633 JMJD7-PLA2G4B,JMJD7-PLA2G4B,PLA2G4B EXON Synonymous_A952A,Missense_Q890R,Synonymous_A721A exm1152269 15 42140017 [T/C] NM_005090,NM_001198588,NM_001114633 JMJD7-PLA2G4B,JMJD7-PLA2G4B,PLA2G4B EXON Missense_R1000C,Silent,Missense_R769C exm1829917 15 42140033 [A/G] NM_005090,NM_001198588,NM_001114633 JMJD7-PLA2G4B,JMJD7-PLA2G4B,PLA2G4B EXON Missense_R1005Q,Silent,Missense_R774Q exm1152279 15 42142100 [A/G] NM_016642 SPTBN5 EXON Missense_T3625M exm1152283 15 42143077 [T/C] NM_016642 SPTBN5 EXON Nonsense_W3597X exm1152288 15 42143102 [G/C] NM_016642 SPTBN5 EXON Missense_P3589R exm1152289 15 42143118 [T/C] NM_016642 SPTBN5 EXON Missense_I3584V exm1152292 15 42143276 [T/C] NM_016642 SPTBN5 EXON Missense_K3571E exm1152296 15 42143294 [A/G] NM_016642 SPTBN5 EXON Missense_R3565W exm1152299 15 42143309 [A/G] NM_016642 SPTBN5 EXON Missense_R3560W exm1152300 15 42143327 [C/G] NM_016642 SPTBN5 EXON Missense_L3554V exm1152304 15 42143486 [T/C] NM_016642 SPTBN5 EXON Missense_A3545T exm1152305 15 42143533 [T/G] NM_016642 SPTBN5 EXON Missense_N3529T exm1152313 15 42144039 [T/C] NM_016642 SPTBN5 EXON Missense_G3497S exm1152317 15 42144400 [A/C] NM_016642 SPTBN5 EXON Missense_A3487S exm1152320 15 42144480 [A/C] NM_016642 SPTBN5 EXON Missense_L3460R exm1152334 15 42145083 [A/G] NM_016642 SPTBN5 EXON Missense_L3394P exm1152341 15 42145167 [T/C] NM_016642 SPTBN5 EXON Missense_R3366Q exm1152348 15 42145506 [A/G] NM_016642 SPTBN5 EXON Missense_R3339W exm1152349 15 42145526 [T/C] NM_016642 SPTBN5 EXON Missense_R3332H exm1152351 15 42145586 [A/G] NM_016642 SPTBN5 EXON Missense_A3312V exm1152353 15 42145593 [T/C] NM_016642 SPTBN5 EXON Missense_D3310N exm1152355 15 42145608 [T/C] NM_016642 SPTBN5 EXON Missense_E3305K exm1152357 15 42145616 [A/G] NM_016642 SPTBN5 EXON Missense_A3302V exm1152366 15 42145904 [A/G] NM_016642 SPTBN5 EXON Missense_P3251S exm1152374 15 42145973 [A/C] NM_016642 SPTBN5 EXON Missense_A3228S exm1152375 15 42145976 [T/C] NM_016642 SPTBN5 EXON Missense_E3227K exm1152377 15 42146268 [A/G] NM_016642 SPTBN5 EXON Nonsense_Q3217X exm1152383 15 42146345 [T/C] NM_016642 SPTBN5 EXON Missense_G3191E exm1152395 15 42147460 [T/C] NM_016642 SPTBN5 EXON Missense_E3094K exm1152403 15 42147594 [T/C] NM_016642 SPTBN5 EXON Missense_R3049Q exm1152431 15 42148718 [T/C] NM_016642 SPTBN5 EXON Missense_G2928R exm1152432 15 42148736 [A/G] NM_016642 SPTBN5 EXON Missense_Y2922H exm1152438 15 42148796 [A/T] NM_016642 SPTBN5 EXON Missense_N2902Y exm1152452 15 42149472 [T/C] NM_016642 SPTBN5 EXON Missense_Q2827R exm1152453 15 42149488 [T/C] NM_016642 SPTBN5 EXON Missense_G2822S exm1152455 15 42149506 [C/G] NM_016642 SPTBN5 EXON Missense_Q2816E exm1152457 15 42149575 [T/C] NM_016642 SPTBN5 EXON Missense_T2793A exm1152462 15 42149596 [G/C] NM_016642 SPTBN5 EXON Missense_G2786R exm1152470 15 42149854 [A/G] NM_016642 SPTBN5 EXON Nonsense_R2726X exm1152474 15 42150801 [T/C] NM_016642 SPTBN5 EXON Missense_R2707Q exm1152481 15 42150888 [A/G] NM_016642 SPTBN5 EXON Missense_T2678I exm1152489 15 42151126 [A/G] NM_016642 SPTBN5 EXON Missense_L2646F exm1152491 15 42152827 [T/C] NM_016642 SPTBN5 EXON Missense_E2614K exm1152498 15 42153617 [T/C] NM_016642 SPTBN5 EXON Nonsense_W2570X exm1152505 15 42153994 [G/C] NM_016642 SPTBN5 EXON Missense_S2524T exm1152509 15 42154081 [T/C] NM_016642 SPTBN5 EXON Missense_R2495Q exm1152513 15 42154377 [A/C] NM_016642 SPTBN5 EXON Missense_R2465L exm1152518 15 42154738 [A/G] NM_016642 SPTBN5 EXON Missense_R2427W exm1152525 15 42155013 [A/G] NM_016642 SPTBN5 EXON Missense_V2378A exm1152526 15 42155023 [C/G] NM_016642 SPTBN5 EXON Missense_E2375Q exm1152527 15 42155032 [T/C] NM_016642 SPTBN5 EXON Missense_E2372K exm1152530 15 42155925 [T/C] NM_016642 SPTBN5 EXON Missense_V2341I exm1152535 15 42155970 [T/C] NM_016642 SPTBN5 EXON Missense_E2326K exm1152537 15 42155991 [A/G] NM_016642 SPTBN5 EXON Missense_L2319F exm1152544 15 42156148 [T/A] NM_016642 SPTBN5 EXON Missense_E2296D exm1152549 15 42158013 [A/G] NM_016642 SPTBN5 EXON Missense_S2269L exm1152551 15 42158022 [T/C] NM_016642 SPTBN5 EXON Missense_R2266Q exm1152561 15 42158373 [A/G] NM_016642 SPTBN5 EXON Missense_R2194W exm1152584 15 42160296 [A/G] NM_016642 SPTBN5 EXON Missense_R2025C exm1152599 15 42160751 [T/C] NM_016642 SPTBN5 EXON Missense_V1933M exm1152607 15 42162052 [T/C] NM_016642 SPTBN5 EXON Missense_R1912H exm1152612 15 42162157 [T/C] NM_016642 SPTBN5 EXON Missense_H1877R exm1152618 15 42162467 [A/G] NM_016642 SPTBN5 EXON Nonsense_R1848X exm1152621 15 42162518 [A/G] NM_016642 SPTBN5 EXON Missense_R1831W exm1152623 15 42162703 [T/C] NM_016642 SPTBN5 EXON Missense_D1800N exm1152639 15 42164078 [A/T] NM_016642 SPTBN5 EXON Missense_F1700I exm1152653 15 42165808 [T/C] NM_016642 SPTBN5 Silent exm1152665 15 42166201 [A/G] NM_016642 SPTBN5 EXON Missense_R1543W exm1152669 15 42166500 [T/C] NM_016642 SPTBN5 EXON Missense_R1525H exm1152673 15 42166644 [T/C] NM_016642 SPTBN5 EXON Missense_R1477Q exm1152699 15 42167711 [T/C] NM_016642 SPTBN5 EXON Missense_R1376H exm1152702 15 42167727 [A/G] NM_016642 SPTBN5 EXON Missense_R1371C exm1152706 15 42168334 [C/G] NM_016642 SPTBN5 EXON Missense_R1332T exm1152710 15 42168368 [T/C] NM_016642 SPTBN5 EXON Missense_E1321K exm1152712 15 42168373 [T/C] NM_016642 SPTBN5 EXON Missense_R1319Q exm1152714 15 42168400 [T/C] NM_016642 SPTBN5 EXON Missense_R1310H exm1152723 15 42169007 [G/C] NM_016642 SPTBN5 EXON Missense_T1249R exm1152727 15 42169055 [T/C] NM_016642 SPTBN5 EXON Missense_R1233Q exm1152730 15 42169074 [T/G] NM_016642 SPTBN5 EXON Missense_P1227T exm1152736 15 42169318 [A/G] NM_016642 SPTBN5 EXON Missense_L1201P exm2223279 15 42169370 [T/C] NM_016642 SPTBN5 EXON Missense_G1184S exm1152740 15 42169376 [A/C] NM_016642 SPTBN5 EXON Missense_V1182L exm1152752 15 42170634 [A/G] NM_016642 SPTBN5 EXON Missense_R1091C exm1152755 15 42170730 [A/G] NM_016642 SPTBN5 EXON Missense_R1059W exm1152762 15 42171462 [T/C] NM_016642 SPTBN5 EXON Missense_V1025I exm1152764 15 42171483 [A/G] NM_016642 SPTBN5 EXON Missense_H1018Y exm1152767 15 42171537 [A/G] NM_016642 SPTBN5 EXON Missense_C1000R exm1152773 15 42171655 [A/C] NM_016642 SPTBN5 EXON Missense_Q960H exm1152778 15 42172429 [T/C] NM_016642 SPTBN5 EXON Missense_K879E exm1152779 15 42172431 [T/C] NM_016642 SPTBN5 EXON Missense_E878G exm1152785 15 42173377 [T/C] NM_016642 SPTBN5 EXON Missense_S803N exm1152787 15 42173386 [T/C] NM_016642 SPTBN5 EXON Missense_G800E exm1152802 15 42175384 [T/C] NM_016642 SPTBN5 EXON Missense_V533M exm1152805 15 42175564 [G/C] NM_016642 SPTBN5 EXON Missense_H512Q exm1152808 15 42175621 [G/C] NM_016642 SPTBN5 EXON Missense_Q493H exm1152810 15 42175665 [A/G] NM_016642 SPTBN5 EXON Missense_R479C exm1152812 15 42177973 [A/G] NM_016642 SPTBN5 EXON Missense_R459W exm1152814 15 42177985 [T/C] NM_016642 SPTBN5 EXON Missense_A455T exm1152819 15 42178122 [T/C] NM_016642 SPTBN5 EXON Missense_D409G exm1152820 15 42178155 [T/C] NM_016642 SPTBN5 EXON Missense_H398R exm1152821 15 42178165 [A/G] NM_016642 SPTBN5 EXON Missense_R395C exm1152822 15 42178167 [T/C] NM_016642 SPTBN5 EXON Missense_R394Q exm1152824 15 42178259 [A/C] NM_016642 SPTBN5 EXON Missense_Q363H exm1152831 15 42178435 [T/C] NM_016642 SPTBN5 EXON Missense_A305T exm1152837 15 42178519 [T/C] NM_016642 SPTBN5 EXON Missense_E277K exm1152839 15 42179424 [T/C] NM_016642 SPTBN5 EXON Missense_R257K exm1152841 15 42179440 [T/C] NM_016642 SPTBN5 EXON Missense_G252R exm1152843 15 42179479 [T/C] NM_016642 SPTBN5 EXON Missense_V239I exm1152850 15 42179610 [T/C] NM_016642 SPTBN5 EXON Missense_R195H exm1152857 15 42180220 [A/G] NM_016642 SPTBN5 EXON Missense_R154W exm1152861 15 42182343 [C/G] NM_016642 SPTBN5 EXON Missense_G114R exm1152864 15 42182352 [C/G] NM_016642 SPTBN5 EXON Missense_L111V exm1152867 15 42185117 [T/C] NM_016642 SPTBN5 EXON Missense_R85Q exm1152871 15 42185145 [A/G] NM_016642 SPTBN5 EXON Missense_R76C exm1152873 15 42185151 [A/G] NM_016642 SPTBN5 EXON Missense_R74C exm1152874 15 42185157 [A/G] NM_016642 SPTBN5 EXON Missense_R72W exm1152882 15 42185482 [A/G] NM_016642 SPTBN5 EXON Nonsense_Q37X exm1152901 15 42192923 [T/C] NM_139265 EHD4 EXON Missense_D516N exm1152911 15 42193088 [A/T] NM_139265 EHD4 EXON Missense_I461F exm1152913 15 42193121 [T/C] NM_139265 EHD4 EXON Missense_V450I exm1152930 15 42193356 [T/G] NM_139265 EHD4 EXON Missense_F371L exm1152962 15 42235316 [T/C] NM_139265 EHD4 EXON Missense_V154I exm1830081 15 42246071 [T/C] NM_139265 EHD4 EXON Missense_A102T exm1152975 15 42264568 [A/G] NM_139265 EHD4 EXON Missense_A42V exm2252143 15 42271067 [T/G] exm1152999 15 42278162 [T/C] NM_001206670 PLA2G4E EXON Missense_A693T exm1153000 15 42278168 [T/C] NM_001206670 PLA2G4E EXON Missense_E691K exm1153006 15 42279477 [T/C] NM_001206670 PLA2G4E EXON Missense_R643Q exm1153018 15 42281639 [T/G] NM_001206670 PLA2G4E EXON Missense_P566Q exm1153020 15 42281657 [T/C] NM_001206670 PLA2G4E EXON Missense_R560Q exm1153033 15 42282388 [T/C] NM_001206670 PLA2G4E EXON Missense_G506S exm1153053 15 42287606 [T/C] NM_001206670 PLA2G4E EXON Missense_N400S exm1153058 15 42289324 [T/C] NM_001206670 PLA2G4E EXON Missense_E370K exm1153062 15 42289437 [T/C] NM_001206670 PLA2G4E EXON Missense_R332Q exm1153064 15 42289456 [C/G] NM_001206670 PLA2G4E EXON Missense_P326A exm1153066 15 42291726 [A/G] NM_001206670 PLA2G4E EXON Missense_P324S exm1153071 15 42292175 [G/C] NM_001206670 PLA2G4E EXON Missense_K292N exm1153072 15 42292182 [T/C] NM_001206670 PLA2G4E EXON Missense_R290H exm1153081 15 42292433 [T/G] NM_001206670 PLA2G4E EXON Missense_R241S exm1153087 15 42293372 [T/C] NM_001206670 PLA2G4E EXON Missense_R219Q exm1153088 15 42293391 [A/G] NM_001206670 PLA2G4E EXON Missense_H213Y exm1153089 15 42293394 [T/C] NM_001206670 PLA2G4E EXON Missense_V212I exm1153095 15 42294872 [T/C] NM_001206670 PLA2G4E EXON Missense_V197I exm2223287 15 42294887 [A/G] NM_001206670 PLA2G4E EXON Missense_P192S exm1153100 15 42298226 [A/G] NM_001206670 PLA2G4E EXON Nonsense_R163X exm1153102 15 42298303 [G/C] NM_001206670 PLA2G4E EXON Missense_S137T exm1153130 15 42360950 [T/C] NM_178034 PLA2G4D EXON Missense_R807Q exm1153134 15 42361022 [T/C] NM_178034 PLA2G4D EXON Missense_R783Q exm1153139 15 42361122 [T/C] NM_178034 PLA2G4D EXON Missense_A750T exm1153152 15 42362163 [A/G] NM_178034 PLA2G4D EXON Missense_P725L exm1153165 15 42362968 [A/G] NM_178034 PLA2G4D EXON Missense_R664C exm1153168 15 42362983 [T/C] NM_178034 PLA2G4D EXON Missense_M659V exm1153169 15 42363012 [C/G] NM_178034 PLA2G4D EXON Missense_A649G exm1153171 15 42363043 [T/G] NM_178034 PLA2G4D EXON Missense_K639Q exm1153173 15 42363078 [T/C] NM_178034 PLA2G4D EXON Missense_Y627C exm1153179 15 42363395 [T/C] NM_178034 PLA2G4D EXON Missense_R601H exm1153186 15 42363480 [A/G] NM_178034 PLA2G4D EXON Missense_R573W exm1153188 15 42363488 [A/G] NM_178034 PLA2G4D EXON Missense_T570I exm1153194 15 42363998 [A/G] NM_178034 PLA2G4D EXON Missense_P516L exm1153197 15 42364038 [T/C] NM_178034 PLA2G4D EXON Missense_G503S exm1153198 15 42364046 [T/C] NM_178034 PLA2G4D EXON Missense_E500G exm1153203 15 42364075 [T/G] NM_178034 PLA2G4D EXON Missense_F490L exm1153204 15 42364080 [A/C] NM_178034 PLA2G4D EXON Missense_G489C exm1153213 15 42364485 [G/C] NM_178034 PLA2G4D EXON Missense_L475V exm1153214 15 42364501 [C/G] NM_178034 PLA2G4D EXON Missense_E469D exm1153222 15 42371752 [T/A] NM_178034 PLA2G4D EXON Missense_S434T exm1153234 15 42373292 [A/G] NM_178034 PLA2G4D EXON Missense_R333W exm1153240 15 42373746 [C/G] NM_178034 PLA2G4D EXON Missense_R296S exm1153243 15 42373810 [C/G] NM_178034 PLA2G4D EXON Missense_P275R exm1830147 15 42374002 [T/C] NM_178034 PLA2G4D EXON Missense_E272K exm1153249 15 42374514 [A/G] NM_178034 PLA2G4D EXON Missense_I249T exm1830150 15 42374548 [T/C] NM_178034 PLA2G4D EXON Missense_G238R exm1153255 15 42375438 [C/G] NM_178034 PLA2G4D EXON Missense_H210Q exm1153257 15 42375445 [T/C] NM_178034 PLA2G4D EXON Missense_R208H exm1153263 15 42375928 [A/G] NM_178034 PLA2G4D EXON Missense_T174I exm1153267 15 42375967 [A/C] NM_178034 PLA2G4D EXON Missense_L161R exm1153268 15 42375978 [T/C] NM_178034 PLA2G4D Silent exm1153275 15 42378436 [T/C] NM_178034 PLA2G4D EXON Missense_R121Q exm1153283 15 42379586 [T/C] NM_178034 PLA2G4D EXON Missense_G56E exm1153289 15 42379849 [T/C] NM_178034 PLA2G4D EXON Missense_R32Q exm1153293 15 42379898 [G/C] NM_178034 PLA2G4D EXON Missense_G16R exm1153294 15 42379900 [T/C] NM_178034 PLA2G4D Silent exm1153296 15 42386615 [C/G] NM_178034 PLA2G4D EXON Missense_Q15E exm1153297 15 42386630 [T/G] NM_178034 PLA2G4D EXON Missense_P10T exm1153299 15 42386638 [A/C] NM_178034 PLA2G4D EXON Missense_G7V exm1153303 15 42434202 [A/G] NM_213600,NR_033151 PLA2G4F,PLA2G4F EXON Missense_R844W,Silent exm1153310 15 42434273 [T/C] NM_213600,NR_033151 PLA2G4F,PLA2G4F EXON Missense_R820Q,Silent exm1153313 15 42434285 [A/C] NM_213600,NR_033151 PLA2G4F,PLA2G4F EXON Missense_V816G,Silent exm1153314 15 42434291 [T/C] NM_213600,NR_033151 PLA2G4F,PLA2G4F EXON Missense_R814Q,Silent exm1153315 15 42434336 [C/G] NM_213600,NR_033151 PLA2G4F,PLA2G4F EXON Missense_P799R,Silent exm1153316 15 42434394 [A/G] NM_213600,NR_033151 PLA2G4F,PLA2G4F EXON Nonsense_R780X,Silent exm1153318 15 42434727 [T/C] NM_213600,NR_033151 PLA2G4F,PLA2G4F EXON Synonymous_P776P,Silent exm1153319 15 42434738 [A/G] NM_213600,NR_033151 PLA2G4F,PLA2G4F EXON Missense_H773Y,Silent exm1153322 15 42434752 [T/C] NM_213600,NR_033151 PLA2G4F,PLA2G4F EXON Missense_R768H,Silent exm1153331 15 42434837 [T/C] NM_213600,NR_033151 PLA2G4F,PLA2G4F EXON Missense_M740V,Silent exm1153333 15 42434860 [A/C] NM_213600,NR_033151 PLA2G4F,PLA2G4F EXON Missense_S732I,Silent exm1153335 15 42434875 [T/C] NM_213600,NR_033151 PLA2G4F,PLA2G4F EXON Missense_G727E,Silent exm1153336 15 42434905 [T/C] NM_213600,NR_033151 PLA2G4F,PLA2G4F EXON Missense_K717R,Silent exm1153340 15 42436237 [A/G] NM_213600,NR_033151 PLA2G4F,PLA2G4F EXON Missense_L694P,Silent exm1153346 15 42436313 [A/G] NM_213600,NR_033151 PLA2G4F,PLA2G4F EXON Missense_L669F,Silent exm1153354 15 42436720 [T/C] NM_213600,NR_033151 PLA2G4F,PLA2G4F EXON Missense_S635G,Silent exm1153355 15 42436737 [T/C] NM_213600,NR_033151 PLA2G4F,PLA2G4F EXON Missense_R629H,Silent exm1153359 15 42436773 [A/G] NM_213600,NR_033151 PLA2G4F,PLA2G4F EXON Missense_P617L,Silent exm1153366 15 42436817 [T/G] NM_213600,NR_033151 PLA2G4F,PLA2G4F EXON Missense_H602Q,Silent exm1830194 15 42437820 [A/G] NM_213600,NR_033151 PLA2G4F,PLA2G4F EXON Missense_S578L,Silent exm1153376 15 42437975 [T/C] NM_213600,NR_033151 PLA2G4F,PLA2G4F EXON Missense_C554Y,Silent exm1153377 15 42437977 [G/C] NM_213600,NR_033151 PLA2G4F,PLA2G4F EXON Missense_I553M,Silent exm1153380 15 42438000 [A/G] NM_213600,NR_033151 PLA2G4F,PLA2G4F EXON Nonsense_Q546X,Silent exm1153387 15 42438086 [A/G] NM_213600,NR_033151 PLA2G4F,PLA2G4F EXON Missense_T517M,Silent exm2223293 15 42438342 [T/C] NM_213600,NR_033151 PLA2G4F,PLA2G4F EXON Missense_S506N,Silent exm1153391 15 42438355 [A/G] NM_213600,NR_033151 PLA2G4F,PLA2G4F EXON Missense_R502C,Silent exm1153392 15 42438357 [A/G] NM_213600,NR_033151 PLA2G4F,PLA2G4F EXON Missense_V501A,Silent exm1153397 15 42438400 [A/G] NM_213600,NR_033151 PLA2G4F,PLA2G4F EXON Missense_R487C,Silent exm1153399 15 42438405 [A/G] NM_213600,NR_033151 PLA2G4F,PLA2G4F EXON Missense_A485V,Silent exm1153406 15 42439369 [A/G] NM_213600,NR_033151 PLA2G4F,PLA2G4F EXON Missense_L458F,Silent exm1153409 15 42439395 [T/C] NM_213600,NR_033151 PLA2G4F,PLA2G4F EXON Missense_R449Q,Silent exm1153416 15 42439444 [T/C] NM_213600,NR_033151 PLA2G4F,PLA2G4F EXON Missense_A433T,Silent exm1153417 15 42439479 [T/C] NM_213600,NR_033151 PLA2G4F,PLA2G4F EXON Missense_R421H,Silent exm1153419 15 42439503 [T/A] NM_213600,NR_033151 PLA2G4F,PLA2G4F EXON Missense_V413E,Silent exm1153420 15 42439540 [T/G] NM_213600,NR_033151 PLA2G4F,PLA2G4F EXON Missense_I401L,Silent exm1153421 15 42439870 [A/G] NM_213600,NR_033151 PLA2G4F,PLA2G4F EXON Missense_L384F,Silent exm1830210 15 42439921 [A/G] NM_213600,NR_033151 PLA2G4F,PLA2G4F EXON Nonsense_R367X,Silent exm1153447 15 42442823 [C/G] NM_213600,NR_033151 PLA2G4F,PLA2G4F EXON Missense_L252V,Silent exm1830225 15 42442828 [T/A] NM_213600,NR_033151 PLA2G4F,PLA2G4F EXON Missense_M250K,Silent exm1153448 15 42442838 [T/C] NM_213600,NR_033151 PLA2G4F,PLA2G4F EXON Missense_V247M,Silent exm1153452 15 42442868 [T/C] NM_213600,NR_033151 PLA2G4F,PLA2G4F EXON Missense_V237M,Silent exm1153477 15 42446373 [T/C] NM_213600,NR_033151 PLA2G4F,PLA2G4F EXON Missense_D123N,Silent exm1153480 15 42446415 [T/C] NM_213600,NR_033151 PLA2G4F,PLA2G4F EXON Missense_V109I,Silent exm1830257 15 42455832 [A/C] NM_015289 VPS39 EXON Missense_M707I exm1153532 15 42456594 [T/C] NM_015289 VPS39 EXON Missense_Y663C exm1153543 15 42457275 [A/G] NM_015289 VPS39 EXON Missense_R606W exm1153547 15 42457972 [A/C] NM_015289 VPS39 EXON Missense_D575Y exm1830273 15 42459024 [A/G] NM_015289 VPS39 EXON Missense_H489Y exm1153558 15 42459105 [T/C] NM_015289 VPS39 EXON Missense_V462M exm1153606 15 42492097 [T/C] NM_015289 VPS39 EXON Missense_V46I exm2275303 15 42511841 [T/C] NM_015497 TMEM87A Silent exm1153625 15 42511842 [T/C] NM_015497 TMEM87A Silent exm1153645 15 42528547 [C/G] NM_015497 TMEM87A EXON Missense_I313M exm1153668 15 42536362 [T/C] NM_015497 TMEM87A EXON Missense_M170V exm1153682 15 42556344 [T/G] NM_015497,NM_001110503 TMEM87A,TMEM87A EXON Missense_K117Q,Missense_K117Q exm1153707 15 42568547 [G/C] NM_198141 GANC EXON Missense_L11V exm1153708 15 42568593 [A/G] NM_198141 GANC EXON Missense_K26R exm1153711 15 42570702 [A/G] NM_198141 GANC EXON Missense_K39E exm1153713 15 42570718 [A/G] NM_198141 GANC EXON Missense_Q44R exm1153723 15 42579949 [A/G] NM_198141 GANC EXON Missense_E88K exm1153725 15 42579971 [A/G] NM_198141 GANC EXON Missense_R95K exm1153727 15 42580012 [A/G] NM_198141 GANC EXON Missense_V109I exm1153733 15 42585009 [A/G] NM_198141 GANC EXON Missense_A136T exm1153734 15 42585010 [T/C] NM_198141 GANC EXON Missense_A136V exm1153738 15 42585062 [A/G] NM_198141 GANC EXON Missense_I153M exm1153741 15 42585096 [T/C] NM_198141 GANC EXON Nonsense_Q165X exm1153743 15 42585099 [A/G] NM_198141 GANC EXON Missense_I166V exm1153745 15 42589847 [C/G] NM_198141 GANC EXON Missense_T184S exm1153754 15 42600418 [A/G] NM_198141 GANC Silent exm1153757 15 42600486 [A/G] NM_198141 GANC EXON Missense_H231R exm1153758 15 42600506 [A/C] NM_198141 GANC EXON Missense_K238Q exm1153763 15 42602621 [T/C] NM_198141 GANC EXON Missense_S288L exm1153786 15 42614205 [A/G] NM_198141 GANC EXON Missense_S427N exm1153788 15 42618524 [A/G] NM_198141 GANC EXON Missense_K441R exm1153790 15 42618531 [A/T] NM_198141 GANC EXON Missense_D443E exm1153802 15 42622840 [T/C] NM_198141 GANC EXON Missense_R571C exm1153813 15 42630640 [A/G] NM_198141 GANC EXON Missense_I599V exm1153816 15 42630673 [A/G] NM_198141 GANC EXON Missense_I610V exm1830397 15 42631978 [A/G] NM_198141 GANC EXON Missense_R652Q exm1153829 15 42632014 [A/G] NM_198141 GANC EXON Missense_R664Q exm1153830 15 42632022 [T/C] NM_198141 GANC EXON Nonsense_R667X exm1153832 15 42632041 [A/G] NM_198141 GANC EXON Missense_R673H exm1153834 15 42632062 [A/G] NM_198141 GANC EXON Nonsense_W680X exm1153845 15 42632932 [T/C] NM_198141 GANC EXON Missense_M711T exm1153858 15 42638004 [A/G] NM_198141 GANC EXON Missense_V760I exm1153863 15 42640302 [A/T] NM_198141 GANC EXON Missense_I769N exm1153874 15 42643529 [T/C] NM_198141 GANC EXON Missense_F845S exm1153875 15 42643538 [A/G] NM_198141 GANC EXON Missense_Q848R exm1153876 15 42643546 [A/C] NM_198141 GANC EXON Missense_H851N exm1153881 15 42644226 [A/G] NM_198141 GANC Silent exm1153882 15 42644231 [A/G] NM_198141 GANC EXON Missense_G880D exm1153900 15 42652013 [A/G] NM_000070,NM_173087,NM_024344 CAPN3,CAPN3,CAPN3 EXON Missense_V4I,Missense_V4I,Missense_V4I exm1153904 15 42652065 [A/G] NM_000070,NM_173087,NM_024344 CAPN3,CAPN3,CAPN3 EXON Missense_G21E,Missense_G21E,Missense_G21E exm1153905 15 42652076 [T/C] NM_000070,NM_173087,NM_024344 CAPN3,CAPN3,CAPN3 EXON Missense_H25Y,Missense_H25Y,Missense_H25Y exm1153914 15 42652235 [A/C] NM_000070,NM_173087,NM_024344 CAPN3,CAPN3,CAPN3 EXON Missense_P78T,Missense_P78T,Missense_P78T exm1153918 15 42652311 [T/C] NM_000070,NM_173087,NM_024344 CAPN3,CAPN3,CAPN3 EXON Missense_P103L,Missense_P103L,Missense_P103L exm1153920 15 42676690 [A/G] NM_000070,NM_173087,NM_024344 CAPN3,CAPN3,CAPN3 EXON Missense_E107K,Missense_E107K,Missense_E107K exm1153941 15 42678464 [G/C] NM_000070,NM_173087,NM_024344 CAPN3,CAPN3,CAPN3 EXON Missense_A160G,Missense_A160G,Missense_A160G exm1153944 15 42680003 [T/C] NM_000070,NM_173087,NM_024344 CAPN3,CAPN3,CAPN3 EXON Missense_T184M,Missense_T184M,Missense_T184M exm1153946 15 42680036 [A/G] NM_000070,NM_173087,NM_024344 CAPN3,CAPN3,CAPN3 EXON Missense_N195S,Missense_N195S,Missense_N195S exm1153947 15 42680041 [T/C] NM_000070,NM_173087,NM_024344 CAPN3,CAPN3,CAPN3 EXON Missense_R197C,Missense_R197C,Missense_R197C exm1153951 15 42681199 [A/G] NM_000070,NM_173087,NM_024344 CAPN3,CAPN3,CAPN3 EXON Missense_A236T,Missense_A236T,Missense_A236T exm1153952 15 42681214 [A/G] NM_000070,NM_173087,NM_024344 CAPN3,CAPN3,CAPN3 EXON Missense_I241V,Missense_I241V,Missense_I241V exm-rs2412710 15 42683787 [A/G] NM_000070,NM_173087,NM_024344 CAPN3,CAPN3,CAPN3 Silent,Silent,Silent exm1153987 15 42691799 [A/G] NM_000070,NM_173087,NM_024344 CAPN3,CAPN3,CAPN3 EXON Missense_E435K,Missense_E387K,Missense_E435K exm1154001 15 42693962 [A/G] NM_000070,NM_173087,NM_024344 CAPN3,CAPN3,CAPN3 EXON Missense_R493Q,Missense_R445Q,Missense_R493Q exm1154011 15 42694998 [A/G] NM_000070,NM_173087,NM_024344,NM_173088 CAPN3,CAPN3,CAPN3,CAPN3 EXON Missense_G515R,Missense_G467R,Missense_G515R,Missense_G3R exm1154019 15 42695098 [A/G] NM_000070,NM_173087,NM_024344,NM_173088 CAPN3,CAPN3,CAPN3,CAPN3 EXON Missense_R548H,Missense_R500H,Missense_R548H,Missense_R36H exm1154035 15 42700421 [A/G] NM_000070,NM_173087,NM_024344,NM_173088,NM_173090,NM_173089 CAPN3,CAPN3,CAPN3,CAPN3,CAPN3,CAPN3 EXON Missense_V605I,Silent,Missense_V599I,Missense_V93I,Silent,Silent exm2252145 15 42700438 [T/C] NM_000070,NM_173087,NM_024344,NM_173088,NM_173090,NM_173089 CAPN3,CAPN3,CAPN3,CAPN3,CAPN3,CAPN3 EXON Synonymous_N610N,Silent,Synonymous_N604N,Synonymous_N98N,Silent,Silent exm1154047 15 42702042 [T/C] NM_000070,NM_173087,NM_024344,NM_173088,NM_173090,NM_173089 CAPN3,CAPN3,CAPN3,CAPN3,CAPN3,CAPN3 EXON Missense_H684Y,Missense_H592Y,Missense_H678Y,Missense_H172Y,Missense_H19Y,Missense_H19Y exm1154059 15 42702858 [A/G] NM_000070,NM_173087,NM_024344,NM_173088,NM_173090,NM_173089 CAPN3,CAPN3,CAPN3,CAPN3,CAPN3,CAPN3 EXON Missense_D753N,Missense_D661N,Missense_D747N,Missense_D241N,Missense_D88N,Missense_D88N exm1830481 15 42703087 [T/C] NM_000070,NM_173087,NM_024344,NM_173088,NM_173090,NM_173089 CAPN3,CAPN3,CAPN3,CAPN3,CAPN3,CAPN3 EXON Missense_H757Y,Missense_H665Y,Missense_H751Y,Missense_H245Y,Missense_H92Y,Missense_H92Y exm1154064 15 42703150 [A/G] NM_000070,NM_173087,NM_024344,NM_173088,NM_173090,NM_173089 CAPN3,CAPN3,CAPN3,CAPN3,CAPN3,CAPN3 EXON Missense_D778N,Missense_D686N,Missense_D772N,Missense_D266N,Missense_D113N,Missense_D113N exm2272233 15 42703406 [T/C] NM_000070,NM_173087,NM_024344,NM_173088,NM_173090,NM_173089 CAPN3,CAPN3,CAPN3,CAPN3,CAPN3,CAPN3 Silent,Silent,Silent,Silent,Silent,Silent exm1154085 15 42710122 [T/C] NM_022473 ZFP106 EXON Missense_V1826I exm1154098 15 42717171 [C/G] NM_022473 ZFP106 EXON Missense_C1661S exm1154099 15 42717213 [A/C] NM_022473 ZFP106 EXON Missense_R1647L exm1154105 15 42720259 [T/A] NM_022473 ZFP106 EXON Missense_Y1629F exm1830511 15 42720322 [T/C] NM_022473 ZFP106 EXON Missense_C1608Y exm1154116 15 42727679 [G/C] NM_022473 ZFP106 EXON Missense_S1572C exm1154137 15 42731622 [A/G] NM_022473 ZFP106 EXON Missense_R1362W exm1154144 15 42731805 [T/C] NM_022473 ZFP106 EXON Missense_N1301D exm1154156 15 42734277 [G/C] NM_022473 ZFP106 EXON Missense_A1230P exm1154159 15 42734331 [G/C] NM_022473 ZFP106 EXON Missense_V1212L exm1154163 15 42734355 [A/T] NM_022473 ZFP106 EXON Missense_M1204L exm1154165 15 42734423 [C/G] NM_022473 ZFP106 EXON Missense_S1181C exm1154168 15 42734481 [T/G] NM_022473 ZFP106 EXON Missense_P1162T exm1154171 15 42734514 [T/G] NM_022473 ZFP106 EXON Missense_L1151M exm1154173 15 42734562 [G/C] NM_022473 ZFP106 EXON Missense_R1135G exm1154176 15 42736454 [T/C] NM_022473 ZFP106 EXON Missense_M1100V exm1154183 15 42737078 [T/C] NM_022473 ZFP106 EXON Missense_A1080T exm1154191 15 42740364 [A/G] NM_022473 ZFP106 EXON Missense_S991F exm1154193 15 42740370 [A/G] NM_022473 ZFP106 EXON Missense_A989V exm1154203 15 42740541 [A/G] NM_022473 ZFP106 EXON Missense_T932I exm1154204 15 42740560 [T/C] NM_022473 ZFP106 EXON Missense_R926G exm1154207 15 42740625 [T/C] NM_022473 ZFP106 EXON Missense_Q904R exm1154209 15 42740719 [C/G] NM_022473 ZFP106 EXON Missense_V873L exm1154214 15 42740884 [A/G] NM_022473 ZFP106 EXON Missense_P818S exm1830543 15 42742118 [A/G] NM_022473 ZFP106 EXON Synonymous_S761S exm1154224 15 42742435 [T/C] NM_022473 ZFP106 EXON Missense_M656V exm1154226 15 42742464 [A/G] NM_022473 ZFP106 EXON Missense_I646T exm1154242 15 42742897 [A/G] NM_022473 ZFP106 EXON Missense_Y502H exm1154243 15 42742932 [A/G] NM_022473 ZFP106 EXON Missense_S490L exm1154250 15 42743142 [A/G] NM_022473 ZFP106 EXON Missense_S420F exm1154253 15 42743265 [A/G] NM_022473 ZFP106 EXON Missense_L379P exm1154257 15 42743422 [T/C] NM_022473 ZFP106 EXON Missense_A327T exm1154269 15 42743911 [A/G] NM_022473 ZFP106 EXON Missense_H164Y exm1154274 15 42744094 [A/G] NM_022473 ZFP106 EXON Missense_W103R exm1154286 15 42804092 [T/G] NM_130798,NM_003825 SNAP23,SNAP23 EXON Missense_I16M,Missense_I16M exm1154288 15 42805628 [T/C] NM_130798,NM_003825 SNAP23,SNAP23 EXON Missense_M44T,Missense_M44T exm1154301 15 42820588 [T/C] NM_130798,NM_003825 SNAP23,SNAP23 EXON Silent,Missense_T132M exm1154304 15 42820617 [T/C] NM_130798,NM_003825 SNAP23,SNAP23 EXON Silent,Missense_R142C exm1830585 15 42836285 [G/C] NM_153260 LRRC57 EXON Missense_A239G exm1830587 15 42837313 [T/C] NM_153260 LRRC57 EXON Missense_E214K exm1154316 15 42837363 [A/C] NM_153260 LRRC57 EXON Missense_I197S exm1154324 15 42839594 [T/C] NM_153260 LRRC57 EXON Synonymous_Q119Q exm1154340 15 42850457 [A/C] NM_001130447,NM_018097 HAUS2,HAUS2 EXON Silent,Missense_Q52P exm1154346 15 42851600 [T/C] NM_001130447,NM_018097 HAUS2,HAUS2 EXON Missense_F53L,Missense_F84L exm1154351 15 42853561 [T/C] NM_001130447,NM_018097 HAUS2,HAUS2 EXON Missense_M86T,Missense_M117T exm1154370 15 42877759 [A/G] NM_020759 STARD9 EXON Missense_K53R exm1154379 15 42953372 [A/G] NM_020759 STARD9 EXON Missense_N240S exm1154396 15 42967124 [A/G] NM_020759 STARD9 EXON Missense_N550S exm1154397 15 42967130 [T/G] NM_020759 STARD9 EXON Missense_R552L exm1154405 15 42968140 [A/G] NM_020759 STARD9 EXON Missense_R614Q exm1154416 15 42974713 [T/C] NM_020759 STARD9 EXON Missense_T826M exm1154424 15 42976706 [T/C] NM_020759 STARD9 EXON Missense_A977V exm1154434 15 42977116 [T/C] NM_020759 STARD9 EXON Missense_C1114R exm1154436 15 42977266 [C/G] NM_020759 STARD9 EXON Missense_G1164R exm1154438 15 42977290 [T/C] NM_020759 STARD9 EXON Missense_R1172C exm1154446 15 42977660 [T/C] NM_020759 STARD9 EXON Missense_P1295L exm1154450 15 42977839 [G/C] NM_020759 STARD9 EXON Missense_G1355R exm1154461 15 42978426 [A/T] NM_020759 STARD9 EXON Missense_H1550Q exm1154465 15 42978892 [A/G] NM_020759 STARD9 EXON Missense_K1706E exm1154467 15 42979099 [T/C] NM_020759 STARD9 EXON Missense_P1775S exm1154469 15 42979105 [A/G] NM_020759 STARD9 EXON Missense_R1777G exm1154473 15 42979226 [G/C] NM_020759 STARD9 EXON Missense_A1817G exm1154476 15 42979456 [T/G] NM_020759 STARD9 EXON Missense_C1894G exm1154480 15 42979547 [A/G] NM_020759 STARD9 EXON Missense_N1924S exm2223312 15 42979861 [A/G] NM_020759 STARD9 EXON Missense_N2029D exm1154489 15 42980023 [A/G] NM_020759 STARD9 EXON Missense_E2083K exm1154494 15 42980390 [T/C] NM_020759 STARD9 EXON Missense_A2205V exm1154496 15 42980441 [A/G] NM_020759 STARD9 EXON Missense_N2222S exm1154505 15 42981022 [A/G] NM_020759 STARD9 EXON Missense_M2416V exm1154508 15 42981101 [G/C] NM_020759 STARD9 EXON Missense_P2442R exm1154512 15 42981377 [T/C] NM_020759 STARD9 EXON Missense_P2534L exm1154518 15 42981806 [A/G] NM_020759 STARD9 EXON Missense_R2677H exm1154522 15 42982090 [A/G] NM_020759 STARD9 EXON Missense_I2772V exm1154524 15 42982124 [A/G] NM_020759 STARD9 EXON Missense_H2783R exm1154526 15 42982237 [G/C] NM_020759 STARD9 EXON Missense_V2821L exm1154528 15 42982270 [G/C] NM_020759 STARD9 EXON Missense_Q2832E exm1154529 15 42982340 [T/C] NM_020759 STARD9 EXON Missense_T2855I exm1154533 15 42982579 [G/C] NM_020759 STARD9 EXON Missense_E2935Q exm2223314 15 42982636 [T/C] NM_020759 STARD9 EXON Nonsense_R2954X exm1154539 15 42982891 [A/C] NM_020759 STARD9 EXON Missense_S3039R exm1154543 15 42983192 [A/G] NM_020759 STARD9 EXON Missense_Q3139R exm1154554 15 42983771 [C/G] NM_020759 STARD9 EXON Missense_S3332C exm1154566 15 42984156 [G/C] NM_020759 STARD9 EXON Missense_H3460Q exm1154568 15 42984182 [A/G] NM_020759 STARD9 EXON Missense_Y3469C exm-rs16957063 15 42984288 [A/G] NM_020759 STARD9 EXON Synonymous_T3504T exm1154583 15 42984712 [A/G] NM_020759 STARD9 EXON Missense_G3646S exm1154585 15 42984727 [T/G] NM_020759 STARD9 EXON Missense_W3651G exm1154592 15 42985057 [T/C] NM_020759 STARD9 EXON Missense_L3761F exm2223319 15 42985492 [T/G] NM_020759 STARD9 EXON Missense_A3906S exm1154601 15 42985674 [T/G] NM_020759 STARD9 EXON Missense_S3966R exm1154606 15 42985873 [T/C] NM_020759 STARD9 EXON Missense_P4033S exm1154608 15 42986042 [A/C] NM_020759 STARD9 EXON Missense_P4089H exm1154617 15 42986471 [T/A] NM_020759 STARD9 EXON Missense_Q4232L exm1154619 15 42986787 [T/C] NM_020759 STARD9 EXON Missense_R4276W exm1154625 15 42988035 [A/G] NM_020759 STARD9 EXON Missense_S4414N exm1154644 15 43011726 [A/G] NM_020759 STARD9 EXON Missense_R4686Q exm1830629 15 43017376 [T/C] NM_138477 CDAN1 EXON Missense_C1175Y exm1154652 15 43017395 [A/G] NM_138477 CDAN1 EXON Missense_R1169W exm1154667 15 43018512 [T/C] NM_138477 CDAN1 EXON Missense_R1067H exm1154668 15 43018518 [T/C] NM_138477 CDAN1 EXON Missense_R1065Q exm1154670 15 43018524 [A/G] NM_138477 CDAN1 EXON Missense_T1063M exm2276375 15 43018577 [A/G] NM_138477 CDAN1 EXON Synonymous_D1045D exm1154691 15 43020231 [T/C] NM_138477 CDAN1 EXON Missense_V957I exm1154694 15 43020402 [A/G] NM_138477 CDAN1 EXON Synonymous_A956A exm1154696 15 43020433 [T/C] NM_138477 CDAN1 EXON Missense_R946Q exm1154697 15 43020434 [A/G] NM_138477 CDAN1 EXON Missense_R946W exm2274742 15 43020878 [T/C] NM_138477 CDAN1 EXON Missense_G926R exm1154704 15 43020919 [A/G] NM_138477 CDAN1 EXON Missense_A912V exm1154707 15 43020983 [A/G] NM_138477 CDAN1 EXON Missense_R891C exm1154708 15 43020992 [C/G] NM_138477 CDAN1 EXON Missense_D888H exm1154718 15 43021477 [T/G] NM_138477 CDAN1 EXON Missense_T831P exm1154729 15 43021767 [A/G] NM_138477 CDAN1 EXON Synonymous_I802I exm1154731 15 43021813 [A/G] NM_138477 CDAN1 EXON Missense_A787V exm2260430 15 43021986 [A/G] NM_138477 CDAN1 Silent exm1154733 15 43022061 [A/G] NM_138477 CDAN1 EXON Missense_L762S exm1154739 15 43022797 [A/G] NM_138477 CDAN1 EXON Missense_R725W exm1154740 15 43022806 [A/G] NM_138477 CDAN1 EXON Missense_R722C exm1830676 15 43022830 [A/G] NM_138477 CDAN1 EXON Missense_R714W exm1154748 15 43022911 [A/G] NM_138477 CDAN1 EXON Missense_R687C exm1154752 15 43022941 [A/G] NM_138477 CDAN1 EXON Missense_R677W exm1154754 15 43022955 [A/G] NM_138477 CDAN1 EXON Missense_P672L exm1154775 15 43023482 [T/C] NM_138477 CDAN1 EXON Missense_Q596R exm1154780 15 43023506 [A/G] NM_138477 CDAN1 EXON Missense_M588T exm1154782 15 43023852 [G/C] NM_138477 CDAN1 EXON Missense_G569R exm1154787 15 43023908 [A/G] NM_138477 CDAN1 EXON Missense_M550T exm1154792 15 43023990 [T/C] NM_138477 CDAN1 EXON Missense_V523I exm1154800 15 43025359 [C/G] NM_138477 CDAN1 EXON Missense_E465Q exm1154803 15 43026163 [T/C] NM_138477 CDAN1 EXON Missense_R447Q exm2223328 15 43026230 [G/C] NM_138477 CDAN1 EXON Missense_P425A exm1154812 15 43027486 [T/C] NM_138477 CDAN1 EXON Missense_D344N exm1154813 15 43027534 [T/C] NM_138477 CDAN1 EXON Missense_V328I exm1154858 15 43038006 [T/G] NM_173500 TTBK2 EXON Missense_K1241T exm1154859 15 43038017 [G/C] NM_173500 TTBK2 EXON Missense_K1237N exm1154870 15 43038244 [A/G] NM_173500 TTBK2 EXON Missense_R1162C exm1154873 15 43038285 [T/C] NM_173500 TTBK2 EXON Missense_R1148H exm1154883 15 43038397 [C/G] NM_173500 TTBK2 EXON Missense_L1111V exm1154884 15 43038399 [T/C] NM_173500 TTBK2 EXON Missense_R1110H exm1154886 15 43038444 [T/C] NM_173500 TTBK2 EXON Missense_Y1095C exm1154888 15 43044193 [A/G] NM_173500 TTBK2 EXON Missense_T1084M exm1154891 15 43044259 [A/G] NM_173500 TTBK2 EXON Missense_T1062I exm1154900 15 43044503 [C/G] NM_173500 TTBK2 EXON Missense_L981V exm1154917 15 43045234 [A/G] NM_173500 TTBK2 EXON Missense_I737T exm1154918 15 43045273 [T/C] NM_173500 TTBK2 EXON Missense_G724E exm1154922 15 43045311 [T/G] NM_173500 TTBK2 EXON Missense_F711L exm1830726 15 43067395 [C/G] NM_173500 TTBK2 EXON Missense_Q646E exm1154939 15 43067634 [T/G] NM_173500 TTBK2 EXON Missense_T566K exm1154945 15 43067776 [G/C] NM_173500 TTBK2 EXON Missense_A519P exm1154962 15 43069391 [T/C] NM_173500 TTBK2 EXON Missense_N416S exm1154969 15 43075709 [A/G] NM_173500 TTBK2 EXON Missense_P369S exm1154976 15 43086885 [T/C] NM_173500 TTBK2 EXON Missense_T313A exm1155047 15 43132604 [G/C] NM_173500 TTBK2 EXON Missense_G82A exm1155054 15 43170793 [A/G] NM_173500 TTBK2 EXON Missense_L8P exm1155060 15 43237575 [C/G] NM_174916 UBR1 EXON Missense_S1734R exm1155061 15 43237642 [T/C] NM_174916 UBR1 EXON Missense_R1712H exm1155066 15 43244587 [A/G] NM_174916 UBR1 EXON Missense_A1632V exm1155069 15 43250212 [T/C] NM_174916 UBR1 EXON Missense_R1612G exm1830787 15 43252850 [T/C] NM_174916 UBR1 EXON Missense_V1584M exm1155076 15 43256191 [T/C] NM_174916 UBR1 EXON Missense_T1548A exm1830809 15 43276168 [T/C] NM_174916 UBR1 EXON Missense_M1359I exm2252147 15 43277094 [T/C] NM_174916 UBR1 EXON Synonymous_Q1348Q exm1155095 15 43277094 [T/C] NM_174916 UBR1 EXON Synonymous_Q1348Q exm1155104 15 43282285 [T/C] NM_174916 UBR1 EXON Missense_G1264E exm1155107 15 43290382 [T/A] NM_174916 UBR1 EXON Missense_N1247K exm1830818 15 43290393 [A/G] NM_174916 UBR1 EXON Missense_S1244P exm1155110 15 43290450 [A/C] NM_174916 UBR1 EXON Missense_A1225S exm1155123 15 43299402 [A/G] NM_174916 UBR1 EXON Missense_T1097M exm1155139 15 43317071 [T/C] NM_174916 UBR1 EXON Missense_I899V exm1830840 15 43317088 [A/G] NM_174916 UBR1 EXON Missense_T893I exm1155174 15 43335475 [T/A] NM_174916 UBR1 EXON Missense_K596M exm2252148 15 43346974 [A/G] NM_174916 UBR1 EXON Synonymous_L469L exm1155195 15 43348610 [T/C] NM_174916 UBR1 EXON Missense_S405G exm1155200 15 43351311 [T/G] NM_174916 UBR1 EXON Missense_L355F exm1830873 15 43351339 [A/G] NM_174916 UBR1 EXON Missense_S346L exm1155205 15 43351938 [T/C] NM_174916 UBR1 EXON Missense_R316H exm1155215 15 43360142 [A/C] NM_174916 UBR1 EXON Missense_C251F exm1155220 15 43362998 [A/C] NM_174916 UBR1 EXON Missense_Q218H exm1155243 15 43398174 [A/G] NM_174916 UBR1 EXON Missense_A16V exm1155259 15 43430805 [A/G] NM_024956 TMEM62 EXON Missense_K155R exm1155264 15 43438717 [T/G] NM_024956 TMEM62 EXON Missense_G168V exm1155286 15 43444122 [T/C] NM_024956 TMEM62 EXON Missense_L334P exm1155287 15 43444127 [T/C] NM_024956 TMEM62 EXON Missense_H336Y exm1155294 15 43452898 [A/T] NM_024956 TMEM62 EXON Missense_K401M exm1155295 15 43452904 [T/C] NM_024956 TMEM62 EXON Missense_V403A exm1155298 15 43461831 [T/C] NM_024956 TMEM62 EXON Missense_T446I exm1155301 15 43461863 [T/C] NM_024956 TMEM62 EXON Missense_P457S exm1155304 15 43473379 [T/G] NM_024956 TMEM62 EXON Missense_G496V exm1155311 15 43476552 [T/G] NM_024956 TMEM62 EXON Missense_R567I exm1155343 15 43482282 [A/G] NR_027513,NR_027514,NR_045998,NM_012142,NR_045999 CCNDBP1,CCNDBP1,CCNDBP1,CCNDBP1,CCNDBP1 EXON Silent,Silent,Silent,Missense_A121T,Silent exm1155346 15 43482558 [T/C] NR_027513,NR_027514,NR_045998,NM_012142,NR_045999 CCNDBP1,CCNDBP1,CCNDBP1,CCNDBP1,CCNDBP1 EXON Silent,Silent,Silent,Missense_V155A,Silent exm1155347 15 43482569 [T/C] NR_027513,NR_027514,NR_045998,NM_012142,NR_045999 CCNDBP1,CCNDBP1,CCNDBP1,CCNDBP1,CCNDBP1 EXON Silent,Silent,Silent,Missense_C159R,Silent exm1155351 15 43483597 [T/C] NR_027513,NR_027514,NR_045998,NM_012142,NR_045999 CCNDBP1,CCNDBP1,CCNDBP1,CCNDBP1,CCNDBP1 EXON Silent,Silent,Silent,Missense_V195A,Silent exm1830948 15 43483819 [A/G] NR_027513,NR_027514,NR_045998,NM_012142,NR_045999 CCNDBP1,CCNDBP1,CCNDBP1,CCNDBP1,CCNDBP1 EXON Silent,Silent,Silent,Missense_D269G,Silent exm1155362 15 43483843 [T/C] NR_027513,NR_027514,NR_045998,NM_012142,NR_045999 CCNDBP1,CCNDBP1,CCNDBP1,CCNDBP1,CCNDBP1 EXON Silent,Silent,Silent,Missense_I277T,Silent exm1155363 15 43484990 [A/G] NR_027513,NR_027514,NR_045998,NM_012142,NR_045999 CCNDBP1,CCNDBP1,CCNDBP1,CCNDBP1,CCNDBP1 EXON Silent,Silent,Silent,Missense_V304M,Silent exm1155377 15 43489532 [T/C] NM_001114134,NM_000119 EPB42,EPB42 EXON Missense_V682I,Missense_V712I exm1155379 15 43489544 [T/C] NM_001114134,NM_000119 EPB42,EPB42 EXON Missense_N678D,Missense_N708D exm2252150 15 43489611 [T/C] NM_001114134,NM_000119 EPB42,EPB42 EXON Synonymous_T655T,Synonymous_T685T exm1155383 15 43489658 [A/G] NM_001114134,NM_000119 EPB42,EPB42 EXON Missense_R640C,Missense_R670C exm1155384 15 43494043 [T/C] NM_001114134,NM_000119 EPB42,EPB42 EXON Missense_R638G,Missense_R668G exm1155394 15 43495420 [T/C] NM_001114134,NM_000119 EPB42,EPB42 EXON Missense_E558K,Missense_E588K exm1155400 15 43498537 [T/C] NM_001114134,NM_000119 EPB42,EPB42 EXON Missense_A537T,Missense_A567T exm1155405 15 43498659 [A/G] NM_001114134,NM_000119 EPB42,EPB42 EXON Missense_T496M,Missense_T526M exm1155408 15 43498759 [T/C] NM_001114134,NM_000119 EPB42,EPB42 EXON Missense_G463S,Missense_G493S exm1155414 15 43499436 [A/G] NM_001114134,NM_000119 EPB42,EPB42 EXON Missense_R427C,Missense_R457C exm1155424 15 43500478 [T/C] NM_001114134,NM_000119 EPB42,EPB42 EXON Missense_G342D,Missense_G372D exm1830985 15 43500504 [T/C] NM_001114134,NM_000119 EPB42,EPB42 EXON Nonsense_W333X,Nonsense_W363X exm1155426 15 43500853 [A/C] NM_001114134,NM_000119 EPB42,EPB42 EXON Missense_G318V,Missense_G348V exm1155440 15 43502606 [T/C] NM_001114134,NM_000119 EPB42,EPB42 EXON Missense_R194H,Missense_R224H exm1155458 15 43508514 [A/G] NM_001114134,NM_000119 EPB42,EPB42 EXON Missense_R50C,Missense_R80C exm1155465 15 43512935 [T/C] NM_001114134,NM_000119 EPB42,EPB42 EXON Silent,Missense_S30N exm1155466 15 43512954 [A/G] NM_001114134,NM_000119 EPB42,EPB42 EXON Silent,Missense_P24S exm1155469 15 43512995 [A/G] NM_001114134,NM_000119 EPB42,EPB42 EXON Silent,Missense_S10L exm1155477 15 43525791 [A/G] NM_004245,NM_201631 TGM5,TGM5 EXON Missense_V575A,Missense_V657A exm1155484 15 43527020 [T/C] NM_004245,NM_201631 TGM5,TGM5 EXON Missense_K526E,Missense_K608E exm1155485 15 43527022 [T/G] NM_004245,NM_201631 TGM5,TGM5 EXON Missense_E525A,Missense_E607A exm1155487 15 43527058 [T/C] NM_004245,NM_201631 TGM5,TGM5 EXON Missense_R513H,Missense_R595H exm1155489 15 43527092 [A/G] NM_004245,NM_201631 TGM5,TGM5 EXON Missense_Y502H,Missense_Y584H exm1155494 15 43527749 [A/C] NM_004245,NM_201631 TGM5,TGM5 EXON Missense_S462R,Missense_S544R exm1155498 15 43527819 [T/C] NM_004245,NM_201631 TGM5,TGM5 EXON Missense_Q439R,Missense_Q521R exm1155501 15 43527868 [T/C] NM_004245,NM_201631 TGM5,TGM5 EXON Missense_V423M,Missense_V505M exm1155502 15 43527871 [T/C] NM_004245,NM_201631 TGM5,TGM5 EXON Missense_V422M,Missense_V504M exm1155504 15 43527883 [A/G] NM_004245,NM_201631 TGM5,TGM5 EXON Nonsense_R418X,Nonsense_R500X exm1155515 15 43531101 [A/G] NM_004245,NM_201631 TGM5,TGM5 EXON Missense_T338M,Missense_T420M exm1155522 15 43531252 [T/C] NM_004245,NM_201631 TGM5,TGM5 EXON Missense_V288I,Missense_V370I exm1155526 15 43531362 [A/G] NM_004245,NM_201631 TGM5,TGM5 EXON Synonymous_N286N,Synonymous_N368N exm1155529 15 43531411 [C/G] NM_004245,NM_201631 TGM5,TGM5 EXON Missense_A270G,Missense_A352G exm1155541 15 43544969 [T/C] NM_004245,NM_201631 TGM5,TGM5 EXON Missense_V202I,Missense_V284I exm1155544 15 43544998 [T/C] NM_004245,NM_201631 TGM5,TGM5 EXON Missense_R192H,Missense_R274H exm1155548 15 43545056 [A/G] NM_004245,NM_201631 TGM5,TGM5 EXON Missense_W173R,Missense_W255R exm1155550 15 43545061 [A/G] NM_004245,NM_201631 TGM5,TGM5 EXON Missense_A171V,Missense_A253V exm1155555 15 43545096 [G/C] NM_004245,NM_201631 TGM5,TGM5 EXON Missense_N159K,Missense_N241K exm1155563 15 43548792 [A/G] NM_004245,NM_201631 TGM5,TGM5 EXON Missense_R95C,Missense_R177C exm1831046 15 43548812 [T/C] NM_004245,NM_201631 TGM5,TGM5 EXON Missense_Q88R,Missense_Q170R exm1155566 15 43552290 [G/C] NM_004245,NM_201631 TGM5,TGM5 EXON Silent,Missense_Q132H exm1155567 15 43552349 [A/C] NM_004245,NM_201631 TGM5,TGM5 EXON Silent,Missense_G113C exm1155570 15 43552360 [A/G] NM_004245,NM_201631 TGM5,TGM5 EXON Silent,Missense_T109M exm1155572 15 43552372 [T/C] NM_004245,NM_201631 TGM5,TGM5 EXON Silent,Missense_C105Y exm1155575 15 43552428 [G/C] NM_004245,NM_201631 TGM5,TGM5 EXON Silent,Missense_S86R exm1155581 15 43552663 [T/G] NM_004245,NM_201631 TGM5,TGM5 EXON Missense_T42N,Missense_T42N exm1155585 15 43552700 [T/G] NM_004245,NM_201631 TGM5,TGM5 EXON Missense_H30N,Missense_H30N exm1155594 15 43568715 [T/C] NM_052955 TGM7 EXON Missense_N691D exm1155595 15 43568724 [T/C] NM_052955 TGM7 EXON Missense_I688V exm1155605 15 43569085 [A/G] NM_052955 TGM7 EXON Missense_L650F exm1155607 15 43569097 [T/C] NM_052955 TGM7 EXON Missense_E646K exm1155613 15 43569193 [T/C] NM_052955 TGM7 EXON Missense_V614M exm1155614 15 43571328 [A/T] NM_052955 TGM7 EXON Missense_H609L exm1155615 15 43571346 [A/G] NM_052955 TGM7 EXON Missense_I603T exm1155622 15 43571404 [T/C] NM_052955 TGM7 EXON Missense_V584M exm1155623 15 43571406 [T/C] NM_052955 TGM7 EXON Missense_R583H exm1155624 15 43571407 [A/G] NM_052955 TGM7 EXON Missense_R583C exm1155633 15 43571937 [A/G] NM_052955 TGM7 EXON Missense_R522W exm1155634 15 43571958 [A/C] NM_052955 TGM7 EXON Missense_V515L exm1831074 15 43572032 [A/G] NM_052955 TGM7 EXON Missense_A490V exm1155640 15 43572110 [T/C] NM_052955 TGM7 EXON Missense_R464Q exm1155641 15 43572111 [A/G] NM_052955 TGM7 EXON Missense_R464W exm1155645 15 43574114 [T/C] NM_052955 TGM7 EXON Missense_K427E exm1155649 15 43574718 [T/C] NM_052955 TGM7 EXON Missense_S369G exm1155669 15 43579621 [T/C] NM_052955 TGM7 EXON Missense_G241E exm1155670 15 43579631 [T/C] NM_052955 TGM7 EXON Missense_V238M exm1155673 15 43579738 [T/C] NM_052955 TGM7 Silent exm1155674 15 43579740 [A/G] NM_052955 TGM7 EXON Missense_M229T exm1155675 15 43579755 [A/C] NM_052955 TGM7 EXON Missense_R224M exm1831095 15 43579821 [T/C] NM_052955 TGM7 EXON Missense_S202N exm1155708 15 43585102 [A/G] NM_052955 TGM7 EXON Missense_R82W exm2223345 15 43585709 [T/C] NM_052955 TGM7 EXON Missense_R44Q exm1155718 15 43585812 [A/C] NM_052955 TGM7 EXON Nonsense_E10X exm1155724 15 43620707 [G/C] NM_014793 LCMT2 EXON Missense_G661R exm1831119 15 43621066 [A/G] NM_014793 LCMT2 EXON Missense_T541I exm1155734 15 43621136 [T/C] NM_014793 LCMT2 EXON Missense_T518A exm1155740 15 43621273 [T/C] NM_014793 LCMT2 EXON Missense_K472R exm1155744 15 43621436 [A/G] NM_014793 LCMT2 EXON Missense_L418F exm1155745 15 43621483 [T/C] NM_014793 LCMT2 EXON Missense_G402D exm1155746 15 43621524 [C/G] NM_014793 LCMT2 EXON Missense_Q388H exm1155759 15 43621739 [A/G] NM_014793 LCMT2 EXON Missense_L317F exm1155760 15 43621741 [A/G] NM_014793 LCMT2 EXON Missense_T316I exm1155769 15 43621900 [T/C] NM_014793 LCMT2 EXON Nonsense_W263X exm1155772 15 43622020 [A/G] NM_014793 LCMT2 EXON Missense_P223L exm1155777 15 43622098 [T/G] NM_014793 LCMT2 EXON Missense_E197A exm1831127 15 43622105 [T/C] NM_014793 LCMT2 EXON Missense_E195K exm1155779 15 43622161 [T/C] NM_014793 LCMT2 EXON Missense_G176E exm1155786 15 43622197 [T/C] NM_014793 LCMT2 EXON Missense_Q164R exm1155787 15 43622224 [T/G] NM_014793 LCMT2 EXON Missense_Y155S exm1155789 15 43622265 [A/C] NM_014793 LCMT2 EXON Missense_R141S exm1155792 15 43622341 [G/C] NM_014793 LCMT2 EXON Missense_P116R exm1155793 15 43622353 [T/C] NM_014793 LCMT2 EXON Missense_E112G exm1155795 15 43622441 [A/C] NM_014793 LCMT2 EXON Missense_A83S exm1155798 15 43622489 [C/G] NM_014793 LCMT2 EXON Missense_V67L exm1155813 15 43627351 [T/C] NM_001012969,NM_001159280 ADAL,ADAL EXON Missense_S16P,Missense_S16P exm1155819 15 43628874 [A/G] NM_001012969,NM_001159280 ADAL,ADAL EXON Missense_D82G,Missense_D82G exm1155825 15 43632469 [A/G] NM_001012969,NM_001159280 ADAL,ADAL EXON Missense_K88E,Missense_K88E exm1155829 15 43632549 [T/C] NM_001012969,NM_001159280 ADAL,ADAL EXON Synonymous_T114T,Synonymous_T114T exm1155846 15 43638141 [T/G] NM_001012969,NM_001159280 ADAL,ADAL EXON Missense_G172V,Missense_G172V exm1155855 15 43641181 [A/G] NM_001012969,NM_001159280 ADAL,ADAL EXON Missense_N237S,Missense_N210S exm1155857 15 43641186 [A/G] NM_001012969,NM_001159280 ADAL,ADAL EXON Missense_G239S,Missense_G212S exm1155861 15 43641232 [A/G] NM_001012969,NM_001159280 ADAL,ADAL EXON Missense_R254Q,Missense_R227Q exm1155872 15 43643979 [A/C] NM_001159280 ADAL EXON Missense_L275I exm1155875 15 43653305 [T/C] NM_152455 ZSCAN29 EXON Missense_R842Q exm1155876 15 43653306 [A/G] NM_152455 ZSCAN29 EXON Missense_R842W exm1155879 15 43653321 [T/C] NM_152455 ZSCAN29 EXON Missense_G837R exm1831153 15 43653390 [T/C] NM_152455 ZSCAN29 EXON Missense_G814R exm1155883 15 43653413 [T/C] NM_152455 ZSCAN29 EXON Missense_R806H exm1155886 15 43653461 [T/C] NM_152455 ZSCAN29 EXON Missense_H790R exm1155891 15 43653546 [A/G] NM_152455 ZSCAN29 EXON Missense_Y762H exm1155908 15 43653851 [A/C] NM_152455 ZSCAN29 EXON Missense_F660C exm1155916 15 43654010 [T/C] NM_152455 ZSCAN29 EXON Missense_N607S exm1155919 15 43654069 [A/C] NM_152455 ZSCAN29 EXON Missense_R587S exm1155923 15 43654127 [A/C] NM_152455 ZSCAN29 EXON Missense_G568V exm1155925 15 43656116 [A/G] NM_152455 ZSCAN29 EXON Missense_R563C exm1155937 15 43656419 [A/G] NM_152455 ZSCAN29 EXON Missense_R462W exm1155939 15 43656460 [A/C] NM_152455 ZSCAN29 EXON Missense_R448M exm1155942 15 43658311 [T/C] NM_152455 ZSCAN29 EXON Missense_G407S exm2223348 15 43658472 [A/G] NM_152455 ZSCAN29 EXON Missense_V353A exm1155948 15 43658587 [T/C] NM_152455 ZSCAN29 EXON Missense_G315S exm1155951 15 43658601 [T/C] NM_152455 ZSCAN29 EXON Missense_R310Q exm1155959 15 43658755 [T/C] NM_152455 ZSCAN29 EXON Missense_I259V exm1155963 15 43658836 [C/G] NM_152455 ZSCAN29 EXON Missense_E232Q exm1155964 15 43658846 [T/G] NM_152455 ZSCAN29 EXON Missense_R228S exm1155967 15 43658935 [T/C] NM_152455 ZSCAN29 EXON Missense_G199S exm1155978 15 43661802 [T/C] NM_152455 ZSCAN29 EXON Missense_R104G exm1155988 15 43668300 [T/C] NM_014444 TUBGCP4 EXON Missense_S28L exm1155993 15 43668384 [T/C] NM_014444 TUBGCP4 EXON Missense_T56I exm1156002 15 43669249 [A/G] NM_014444 TUBGCP4 EXON Missense_N123S exm1156019 15 43677996 [T/C] NM_014444,NR_046489 TUBGCP4,RNU6-28 EXON Missense_I244T,Silent exm1156025 15 43678481 [T/G] NM_014444,NR_046489 TUBGCP4,RNU6-28 EXON Missense_V323L,Silent exm1156028 15 43678503 [A/G] NM_014444,NR_046489 TUBGCP4,RNU6-28 EXON Missense_D330G,Silent exm1156030 15 43678512 [A/G] NM_014444,NR_046489 TUBGCP4,RNU6-28 EXON Missense_R333H,Silent exm1156053 15 43693969 [A/G] NM_014444,NR_046489 TUBGCP4,RNU6-28 EXON Missense_R551Q,Silent exm1156054 15 43693987 [A/G] NM_014444,NR_046489 TUBGCP4,RNU6-28 EXON Missense_R557Q,Silent exm1156059 15 43695930 [T/C] NM_014444,NR_046489 TUBGCP4,RNU6-28 EXON Missense_S594L,Silent exm1156082 15 43705365 [A/G] NR_046489,NM_001141980,NM_005657,NM_001141979 RNU6-28,TP53BP1,TP53BP1,TP53BP1 EXON Silent,Missense_R1753C,Missense_R1748C,Missense_R1751C exm1831228 15 43705467 [A/C] NR_046489,NM_001141980,NM_005657,NM_001141979 RNU6-28,TP53BP1,TP53BP1,TP53BP1 EXON Silent,Missense_A1719S,Missense_A1714S,Missense_A1717S exm1156096 15 43707854 [A/G] NR_046489,NM_001141980,NM_005657,NM_001141979 RNU6-28,TP53BP1,TP53BP1,TP53BP1 EXON Silent,Missense_I1676T,Missense_I1671T,Missense_I1676T exm1156104 15 43712646 [T/C] NR_046489,NM_001141980,NM_005657,NM_001141979 RNU6-28,TP53BP1,TP53BP1,TP53BP1 EXON Silent,Missense_R1513Q,Missense_R1508Q,Missense_R1513Q exm1156112 15 43712844 [T/C] NR_046489,NM_001141980,NM_005657,NM_001141979 RNU6-28,TP53BP1,TP53BP1,TP53BP1 EXON Silent,Missense_R1447Q,Missense_R1442Q,Missense_R1447Q exm2252152 15 43712852 [A/G] NR_046489,NM_001141980,NM_005657,NM_001141979 RNU6-28,TP53BP1,TP53BP1,TP53BP1 EXON Silent,Synonymous_V1444V,Synonymous_V1439V,Synonymous_V1444V exm1156124 15 43714132 [A/G] NR_046489,NM_001141980,NM_005657,NM_001141979 RNU6-28,TP53BP1,TP53BP1,TP53BP1 EXON Silent,Missense_P1341S,Missense_P1336S,Missense_P1341S exm1156127 15 43714198 [A/G] NR_046489,NM_001141980,NM_005657,NM_001141979 RNU6-28,TP53BP1,TP53BP1,TP53BP1 EXON Silent,Missense_R1319C,Missense_R1314C,Missense_R1319C exm1156128 15 43714234 [T/C] NR_046489,NM_001141980,NM_005657,NM_001141979 RNU6-28,TP53BP1,TP53BP1,TP53BP1 EXON Silent,Missense_I1307V,Missense_I1302V,Missense_I1307V exm1156130 15 43714320 [A/G] NR_046489,NM_001141980,NM_005657,NM_001141979 RNU6-28,TP53BP1,TP53BP1,TP53BP1 EXON Silent,Missense_T1278I,Missense_T1273I,Missense_T1278I exm1156143 15 43724532 [T/C] NR_046489,NM_001141980,NM_005657,NM_001141979 RNU6-28,TP53BP1,TP53BP1,TP53BP1 EXON Silent,Missense_I1179V,Missense_I1174V,Missense_I1179V exm1156146 15 43724576 [T/C] NR_046489,NM_001141980,NM_005657,NM_001141979 RNU6-28,TP53BP1,TP53BP1,TP53BP1 EXON Silent,Missense_C1164Y,Missense_C1159Y,Missense_C1164Y exm1156149 15 43724646 [T/G] NR_046489,NM_001141980,NM_005657,NM_001141979 RNU6-28,TP53BP1,TP53BP1,TP53BP1 EXON Silent,Missense_K1141Q,Missense_K1136Q,Missense_K1141Q exm1156153 15 43724823 [T/A] NR_046489,NM_001141980,NM_005657,NM_001141979 RNU6-28,TP53BP1,TP53BP1,TP53BP1 EXON Silent,Missense_L1082M,Missense_L1077M,Missense_L1082M exm1156162 15 43733730 [A/G] NR_046489,NM_001141980,NM_005657,NM_001141979 RNU6-28,TP53BP1,TP53BP1,TP53BP1 EXON Silent,Missense_V1031A,Missense_V1026A,Missense_V1031A exm1156169 15 43738670 [T/G] NR_046489,NM_001141980,NM_005657,NM_001141979 RNU6-28,TP53BP1,TP53BP1,TP53BP1 EXON Silent,Missense_D985E,Missense_D980E,Missense_D985E exm1156188 15 43748399 [A/C] NR_046489,NM_001141980,NM_005657,NM_001141979 RNU6-28,TP53BP1,TP53BP1,TP53BP1 EXON Silent,Missense_A803S,Missense_A798S,Missense_A803S exm1831275 15 43748580 [A/T] NR_046489,NM_001141980,NM_005657,NM_001141979 RNU6-28,TP53BP1,TP53BP1,TP53BP1 EXON Silent,Missense_E742D,Missense_E737D,Missense_E742D exm1156216 15 43748962 [A/G] NR_046489,NM_001141980,NM_005657,NM_001141979 RNU6-28,TP53BP1,TP53BP1,TP53BP1 EXON Silent,Missense_T615M,Missense_T610M,Missense_T615M exm1156223 15 43749149 [T/C] NR_046489,NM_001141980,NM_005657,NM_001141979 RNU6-28,TP53BP1,TP53BP1,TP53BP1 EXON Silent,Missense_T553A,Missense_T548A,Missense_T553A exm1831285 15 43749236 [T/C] NR_046489,NM_001141980,NM_005657,NM_001141979 RNU6-28,TP53BP1,TP53BP1,TP53BP1 EXON Silent,Missense_T524A,Missense_T519A,Missense_T524A exm1156232 15 43749332 [T/C] NR_046489,NM_001141980,NM_005657,NM_001141979 RNU6-28,TP53BP1,TP53BP1,TP53BP1 EXON Silent,Missense_V492I,Missense_V487I,Missense_V492I exm1156243 15 43762196 [T/C] NR_046489,NM_001141980,NM_005657,NM_001141979 RNU6-28,TP53BP1,TP53BP1,TP53BP1 EXON Silent,Missense_G417S,Missense_G412S,Missense_G417S exm1156250 15 43767763 [A/G] NR_046489,NM_001141980,NM_005657,NM_001141979 RNU6-28,TP53BP1,TP53BP1,TP53BP1 EXON Silent,Missense_T362M,Missense_T357M,Missense_T362M exm1156252 15 43767774 [C/G] NR_046489,NM_001141980,NM_005657,NM_001141979 RNU6-28,TP53BP1,TP53BP1,TP53BP1 EXON Silent,Missense_D358E,Missense_D353E,Missense_D358E exm1156255 15 43767874 [C/G] NR_046489,NM_001141980,NM_005657,NM_001141979 RNU6-28,TP53BP1,TP53BP1,TP53BP1 EXON Silent,Missense_S325C,Missense_S320C,Missense_S325C exm1156257 15 43769851 [A/G] NR_046489,NM_001141980,NM_005657,NM_001141979 RNU6-28,TP53BP1,TP53BP1,TP53BP1 EXON Silent,Missense_S299P,Missense_S294P,Missense_S299P exm1156258 15 43769931 [T/C] NR_046489,NM_001141980,NM_005657,NM_001141979 RNU6-28,TP53BP1,TP53BP1,TP53BP1 EXON Silent,Missense_K272R,Missense_K267R,Missense_K272R exm1156268 15 43771694 [T/G] NR_046489,NM_001141980,NM_005657,NM_001141979 RNU6-28,TP53BP1,TP53BP1,TP53BP1 EXON Silent,Missense_D230A,Missense_D225A,Missense_D230A exm1156304 15 43813720 [A/G] NR_046489,NM_002373 RNU6-28,MAP1A EXON Silent,Missense_V17M exm1156324 15 43814657 [T/C] NR_046489,NM_002373 RNU6-28,MAP1A EXON Silent,Missense_T329M exm1156325 15 43814702 [A/G] NR_046489,NM_002373 RNU6-28,MAP1A EXON Silent,Missense_G344E exm1156326 15 43814704 [C/G] NR_046489,NM_002373 RNU6-28,MAP1A EXON Silent,Missense_A345P exm1156327 15 43814717 [A/G] NR_046489,NM_002373 RNU6-28,MAP1A EXON Silent,Missense_R349H exm1156331 15 43814963 [A/G] NR_046489,NM_002373 RNU6-28,MAP1A EXON Silent,Missense_K431R exm1156341 15 43815486 [G/C] NR_046489,NM_002373 RNU6-28,MAP1A EXON Silent,Missense_S605R exm1156360 15 43815974 [T/G] NR_046489,NM_002373 RNU6-28,MAP1A EXON Silent,Missense_F768C exm2223357 15 43815989 [A/G] NR_046489,NM_002373 RNU6-28,MAP1A EXON Silent,Missense_Y773C exm1156367 15 43816181 [A/G] NR_046489,NM_002373 RNU6-28,MAP1A EXON Silent,Missense_K837R exm1156371 15 43816307 [A/G] NR_046489,NM_002373 RNU6-28,MAP1A EXON Silent,Missense_R879H exm1156376 15 43816495 [A/G] NR_046489,NM_002373 RNU6-28,MAP1A EXON Silent,Missense_E942K exm1156378 15 43816513 [A/G] NR_046489,NM_002373 RNU6-28,MAP1A EXON Silent,Missense_V948I exm1156379 15 43816543 [T/C] NR_046489,NM_002373 RNU6-28,MAP1A EXON Silent,Missense_Y958H exm1156380 15 43816549 [A/T] NR_046489,NM_002373 RNU6-28,MAP1A EXON Silent,Missense_T960S exm1156389 15 43816900 [A/G] NR_046489,NM_002373 RNU6-28,MAP1A EXON Silent,Missense_V1077I exm1156390 15 43816904 [A/G] NR_046489,NM_002373 RNU6-28,MAP1A EXON Silent,Missense_N1078S exm1156391 15 43816905 [G/C] NR_046489,NM_002373 RNU6-28,MAP1A EXON Silent,Missense_N1078K exm2267829 15 43816917 [A/G] NR_046489,NM_002373 RNU6-28,MAP1A EXON Silent,Synonymous_G1082G exm1156395 15 43816979 [T/G] NR_046489,NM_002373 RNU6-28,MAP1A EXON Silent,Missense_M1103R exm1156404 15 43817224 [T/C] NR_046489,NM_002373 RNU6-28,MAP1A EXON Silent,Missense_R1185C exm1156405 15 43817225 [A/G] NR_046489,NM_002373 RNU6-28,MAP1A EXON Silent,Missense_R1185H exm1156409 15 43817404 [A/G] NR_046489,NM_002373 RNU6-28,MAP1A EXON Silent,Missense_D1245N exm1156413 15 43817500 [A/G] NR_046489,NM_002373 RNU6-28,MAP1A EXON Silent,Missense_T1277A exm1156416 15 43817531 [A/G] NR_046489,NM_002373 RNU6-28,MAP1A EXON Silent,Missense_K1287R exm2252153 15 43817592 [A/G] NR_046489,NM_002373 RNU6-28,MAP1A EXON Silent,Synonymous_G1307G exm1156423 15 43817694 [C/G] NR_046489,NM_002373 RNU6-28,MAP1A EXON Silent,Missense_K1341N exm1156427 15 43817816 [T/C] NR_046489,NM_002373 RNU6-28,MAP1A EXON Silent,Missense_P1382L exm1156429 15 43817866 [A/G] NR_046489,NM_002373 RNU6-28,MAP1A EXON Silent,Missense_E1399K exm1156437 15 43818079 [A/G] NR_046489,NM_002373 RNU6-28,MAP1A EXON Silent,Missense_A1470T exm1156438 15 43818115 [A/G] NR_046489,NM_002373 RNU6-28,MAP1A EXON Silent,Missense_D1482N exm1156442 15 43818232 [A/G] NR_046489,NM_002373 RNU6-28,MAP1A EXON Silent,Missense_R1521G exm1156447 15 43818424 [A/G] NR_046489,NM_002373 RNU6-28,MAP1A EXON Silent,Missense_V1585M exm1156449 15 43818532 [C/G] NR_046489,NM_002373 RNU6-28,MAP1A EXON Silent,Missense_L1621V exm1156452 15 43818607 [A/G] NR_046489,NM_002373 RNU6-28,MAP1A EXON Silent,Missense_V1646M exm1831346 15 43818650 [T/C] NR_046489,NM_002373 RNU6-28,MAP1A EXON Silent,Missense_P1660L exm1831347 15 43818732 [C/G] NR_046489,NM_002373 RNU6-28,MAP1A EXON Silent,Missense_E1687D exm1156462 15 43818898 [T/C] NR_046489,NM_002373 RNU6-28,MAP1A EXON Silent,Missense_R1743W exm1156466 15 43818926 [T/C] NR_046489,NM_002373 RNU6-28,MAP1A EXON Silent,Missense_A1752V exm1156473 15 43819150 [C/G] NR_046489,NM_002373 RNU6-28,MAP1A EXON Silent,Missense_P1827A exm1156477 15 43819396 [T/C] NR_046489,NM_002373 RNU6-28,MAP1A EXON Silent,Missense_Y1909H exm1156481 15 43819427 [A/G] NR_046489,NM_002373 RNU6-28,MAP1A EXON Silent,Missense_E1919G exm1156482 15 43819450 [A/G] NR_046489,NM_002373 RNU6-28,MAP1A EXON Silent,Missense_K1927E exm1156487 15 43819697 [A/G] NR_046489,NM_002373 RNU6-28,MAP1A EXON Silent,Missense_R2009Q exm1156504 15 43820230 [T/C] NR_046489,NM_002373 RNU6-28,MAP1A EXON Silent,Missense_R2187C exm1156508 15 43820377 [T/C] NR_046489,NM_002373 RNU6-28,MAP1A EXON Silent,Missense_P2236S exm1156510 15 43820423 [T/C] NR_046489,NM_002373 RNU6-28,MAP1A EXON Silent,Missense_A2251V exm2252154 15 43820487 [A/G] NR_046489,NM_002373 RNU6-28,MAP1A EXON Silent,Synonymous_A2272A exm2274744 15 43820513 [T/C] NR_046489,NM_002373 RNU6-28,MAP1A EXON Silent,Missense_A2281V exm1156520 15 43820717 [T/C] NR_046489,NM_002373 RNU6-28,MAP1A EXON Silent,Missense_P2349L exm2252155 15 43820781 [A/G] NR_046489,NM_002373 RNU6-28,MAP1A EXON Silent,Synonymous_P2370P exm1156525 15 43820788 [A/G] NR_046489,NM_002373 RNU6-28,MAP1A EXON Silent,Missense_A2373T exm1156529 15 43820881 [A/G] NR_046489,NM_002373 RNU6-28,MAP1A EXON Silent,Missense_D2404N exm1156546 15 43821319 [A/G] NR_046489,NM_002373 RNU6-28,MAP1A EXON Silent,Missense_G2550S exm1156547 15 43821328 [T/C] NR_046489,NM_002373 RNU6-28,MAP1A EXON Silent,Missense_H2553Y exm1831369 15 43821529 [T/C] NR_046489,NM_002373 RNU6-28,MAP1A EXON Silent,Missense_R2620W exm1156566 15 43821686 [A/G] NR_046489,NM_002373 RNU6-28,MAP1A EXON Silent,Missense_N2672S exm1156569 15 43821880 [T/C] NR_046489,NM_002373 RNU6-28,MAP1A EXON Silent,Missense_P2690S exm1831373 15 43821958 [T/C] NR_046489,NM_002373 RNU6-28,MAP1A EXON Silent,Missense_R2716C exm1156572 15 43821989 [A/C] NR_046489,NM_002373 RNU6-28,MAP1A EXON Silent,Missense_D2726A exm1156585 15 43826978 [A/G] NR_046489,NM_014659,NM_001130858,NM_001130859,NM_001190214 RNU6-28,PPIP5K1,PPIP5K1,PPIP5K1,PPIP5K1 EXON Silent,Missense_A1374V,Missense_A1399V,Missense_A1374V,Missense_A1372V exm1156592 15 43827080 [A/G] NR_046489,NM_014659,NM_001130858,NM_001130859,NM_001190214 RNU6-28,PPIP5K1,PPIP5K1,PPIP5K1,PPIP5K1 EXON Silent,Missense_L1340P,Missense_L1365P,Missense_L1340P,Missense_L1338P exm1156601 15 43827387 [C/G] NR_046489,NM_014659,NM_001130858,NM_001130859,NM_001190214 RNU6-28,PPIP5K1,PPIP5K1,PPIP5K1,PPIP5K1 EXON Silent,Missense_D1238H,Missense_D1263H,Missense_D1238H,Missense_D1236H exm1156602 15 43827396 [T/C] NR_046489,NM_014659,NM_001130858,NM_001130859,NM_001190214 RNU6-28,PPIP5K1,PPIP5K1,PPIP5K1,PPIP5K1 EXON Silent,Missense_E1235K,Missense_E1260K,Missense_E1235K,Missense_E1233K exm1156608 15 43827450 [T/C] NR_046489,NM_014659,NM_001130858,NM_001130859,NM_001190214 RNU6-28,PPIP5K1,PPIP5K1,PPIP5K1,PPIP5K1 EXON Silent,Missense_V1217M,Missense_V1242M,Missense_V1217M,Missense_V1215M exm1156610 15 43827512 [C/G] NR_046489,NM_014659,NM_001130858,NM_001130859,NM_001190214 RNU6-28,PPIP5K1,PPIP5K1,PPIP5K1,PPIP5K1 EXON Silent,Missense_G1196A,Missense_G1221A,Missense_G1196A,Missense_G1194A exm1156618 15 43831724 [T/C] NR_046489,NM_014659,NM_001130858,NM_001130859,NM_001190214 RNU6-28,PPIP5K1,PPIP5K1,PPIP5K1,PPIP5K1 EXON Silent,Missense_R1123H,Missense_R1148H,Missense_R1123H,Missense_R1081H exm1156620 15 43851025 [T/C] NR_046489,NM_014659,NM_001130858,NM_001130859,NM_001190214 RNU6-28,PPIP5K1,PPIP5K1,PPIP5K1,PPIP5K1 EXON Silent,Missense_R1093H,Missense_R1118H,Missense_R1093H,Missense_R1051H exm1156633 15 43873543 [T/C] NR_046489,NM_014659,NM_001130858,NM_001130859,NM_001190214 RNU6-28,PPIP5K1,PPIP5K1,PPIP5K1,PPIP5K1 EXON Silent,Missense_K274R,Missense_K274R,Missense_K274R,Missense_K274R exm2223370 15 43890409 [T/G] NR_046489,NM_020990 RNU6-28,CKMT1B EXON Silent,Nonsense_E299X exm2223373 15 43891364 [T/G] NR_046489,NM_020990 RNU6-28,CKMT1B EXON Silent,Missense_V383L exm1156674 15 43892807 [A/G] NR_046489,NM_153700 RNU6-28,STRC EXON Silent,Missense_L1640F exm1156689 15 43893610 [T/C] NR_046489,NM_153700 RNU6-28,STRC EXON Silent,Missense_G1562D exm1156706 15 43895456 [A/G] NM_153700 STRC EXON Missense_M1510T exm1156707 15 43895463 [T/C] NM_153700 STRC EXON Missense_A1508T exm1156710 15 43895519 [T/G] NM_153700 STRC EXON Missense_E1489A exm1156713 15 43895553 [T/G] NM_153700 STRC EXON Missense_T1478P exm1156763 15 43924420 [T/C] NM_054020,NM_172095 CATSPER2,CATSPER2 EXON Missense_R511H,Missense_R513H exm1156773 15 43924522 [A/G] NM_054020,NM_172095 CATSPER2,CATSPER2 EXON Missense_P477L,Missense_P479L exm1156782 15 43925022 [G/C] NM_054020,NM_172095 CATSPER2,CATSPER2 EXON Missense_T428R,Missense_T430R exm1156797 15 43927582 [A/G] NM_054020,NM_172095 CATSPER2,CATSPER2 EXON Missense_S385L,Missense_S385L exm1156799 15 43927585 [A/G] NM_054020,NM_172095 CATSPER2,CATSPER2 EXON Missense_T384M,Missense_T384M exm1156801 15 43927947 [A/G] NM_054020,NM_172095 CATSPER2,CATSPER2 EXON Missense_F367L,Missense_F367L exm1156804 15 43927973 [T/C] NM_054020,NM_172095 CATSPER2,CATSPER2 EXON Missense_R358Q,Missense_R358Q exm1156817 15 43928409 [A/G] NM_054020,NM_172095 CATSPER2,CATSPER2 EXON Missense_P284L,Missense_P284L exm1156818 15 43931102 [A/G] NM_054020,NM_172095 CATSPER2,CATSPER2 EXON Missense_S281L,Missense_S281L exm2223380 15 43931858 [T/G] NM_054020,NM_172095,NM_172097 CATSPER2,CATSPER2,CATSPER2 EXON Missense_L234M,Missense_L234M,Silent exm1156850 15 43939642 [T/C] NM_054020,NM_172095,NM_172097 CATSPER2,CATSPER2,CATSPER2 EXON Missense_V57I,Missense_V57I,Missense_V57I exm1831501 15 43939659 [A/G] NM_054020,NM_172095,NM_172097 CATSPER2,CATSPER2,CATSPER2 EXON Missense_S51F,Missense_S51F,Missense_S51F exm2223383 15 43990211 [T/G] NM_001015001 CKMT1A Silent exm2223384 15 43990212 [T/G] NM_001015001 CKMT1A EXON Missense_V293L exm2223386 15 43991180 [T/G] NM_001015001 CKMT1A EXON Missense_V383L exm1831529 15 44038793 [T/C] NM_005313 PDIA3 EXON Missense_A19V exm1156895 15 44038850 [T/G] NM_005313 PDIA3 EXON Missense_R38L exm2252159 15 44048870 [T/C] NM_005313 PDIA3 EXON Synonymous_N90N exm1156913 15 44055286 [A/G] NM_005313 PDIA3 EXON Missense_D162N exm1156953 15 44063348 [A/G] NM_005313 PDIA3 EXON Missense_A484T exm1156962 15 44065537 [T/C] NM_025165 ELL3 EXON Missense_D350N exm1156965 15 44066402 [T/C] NM_025165 ELL3 EXON Missense_R339Q exm1156982 15 44066826 [A/G] NM_025165 ELL3 EXON Missense_P264L exm1831573 15 44066864 [G/C] NM_025165 ELL3 EXON Missense_E251D exm1156984 15 44066904 [A/G] NM_025165 ELL3 EXON Missense_P238L exm1156986 15 44066968 [A/G] NM_025165 ELL3 EXON Missense_R217C exm1156997 15 44067985 [A/G] NM_025165 ELL3 EXON Missense_W140R exm1156998 15 44068019 [T/G] NM_025165 ELL3 EXON Missense_H128Q exm1156999 15 44068030 [T/C] NM_025165 ELL3 EXON Missense_V125I exm1157001 15 44068078 [T/G] NM_025165 ELL3 EXON Missense_R109S exm1157003 15 44068116 [T/C] NM_025165 ELL3 EXON Missense_G96E exm1157016 15 44068742 [T/C] NM_025165 ELL3 EXON Missense_V45I exm1157035 15 44085229 [A/G] NM_001199877,NM_001018108,NM_001199875,NR_037672,NR_037673,NM_001199876,NM_001199878 SERF2,SERF2,SERF2,SERF2,SERF2-C15ORF63,SERF2,SERF2 EXON Missense_V22I,Missense_V22I,Missense_V22I,Silent,Silent,Missense_V22I,Missense_V8I exm1157040 15 44085781 [A/G] NM_001199877,NM_001018108,NM_001199875,NR_037672,NR_037673,NM_001199876,NM_001199878 SERF2,SERF2,SERF2,SERF2,SERF2-C15ORF63,SERF2,SERF2 EXON Silent,Silent,Missense_V42I,Silent,Silent,Silent,Silent exm1831594 15 44087216 [T/G] NM_001199877,NM_001018108,NM_001199875,NR_037672,NR_037673,NM_001199876,NM_001199878,NM_001258032,NM_001258031 SERF2,SERF2,SERF2,SERF2,SERF2-C15ORF63,SERF2,SERF2,SERINC4,SERINC4 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_N269K,Missense_N513K exm1157051 15 44087244 [T/C] NM_001199877,NM_001018108,NM_001199875,NR_037672,NR_037673,NM_001199876,NM_001199878,NM_001258032,NM_001258031 SERF2,SERF2,SERF2,SERF2,SERF2-C15ORF63,SERF2,SERF2,SERINC4,SERINC4 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_R260H,Missense_R504H exm1157056 15 44087287 [A/G] NM_001199877,NM_001018108,NM_001199875,NR_037672,NR_037673,NM_001199876,NM_001199878,NM_001258032,NM_001258031 SERF2,SERF2,SERF2,SERF2,SERF2-C15ORF63,SERF2,SERF2,SERINC4,SERINC4 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_W246R,Missense_W490R exm1157069 15 44087635 [A/C] NM_001199877,NM_001018108,NM_001199875,NR_037672,NR_037673,NM_001199876,NM_001199878,NM_001258032,NM_001258031 SERF2,SERF2,SERF2,SERF2,SERF2-C15ORF63,SERF2,SERF2,SERINC4,SERINC4 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_F188V,Missense_F432V exm1157073 15 44087935 [T/C] NM_001199877,NM_001018108,NM_001199875,NR_037672,NR_037673,NM_001199876,NM_001199878,NM_001258032,NM_001258031 SERF2,SERF2,SERF2,SERF2,SERF2-C15ORF63,SERF2,SERF2,SERINC4,SERINC4 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm1157075 15 44088374 [G/C] NR_037673,NM_001258032,NM_001258031 SERF2-C15ORF63,SERINC4,SERINC4 EXON Silent,Missense_K129N,Missense_K373N exm1157076 15 44088405 [T/G] NR_037673,NM_001258032,NM_001258031 SERF2-C15ORF63,SERINC4,SERINC4 EXON Silent,Missense_A119D,Missense_A363D exm1157080 15 44088848 [T/C] NR_037673,NM_001258032,NM_001258031 SERF2-C15ORF63,SERINC4,SERINC4 EXON Silent,Missense_A101T,Missense_A345T exm1157082 15 44088871 [T/G] NR_037673,NM_001258032,NM_001258031 SERF2-C15ORF63,SERINC4,SERINC4 EXON Silent,Missense_D93A,Missense_D337A exm-IND15-41876706 15 44089415 [D/I] NR_037673,NM_001258032,NM_001258031 SERF2-C15ORF63,SERINC4,SERINC4 EXON exm1157123 15 44092839 [A/G] NR_037673,NM_016400,NM_001199885 SERF2-C15ORF63,HYPK,HYPK EXON Silent,Missense_V15M,Missense_V15M exm1157125 15 44092864 [T/C] NR_037673,NM_016400,NM_001199885 SERF2-C15ORF63,HYPK,HYPK EXON Silent,Missense_T23I,Missense_T23I exm1157135 15 44093758 [A/G] NR_037673,NM_016400,NM_001199885 SERF2-C15ORF63,HYPK,HYPK EXON Silent,Synonymous_L95L,Missense_G77R exm1157139 15 44093909 [A/G] NR_037673,NM_016400,NM_001199885 SERF2-C15ORF63,HYPK,HYPK EXON Silent,Missense_M99V,Missense_N80S exm1157140 15 44093914 [T/C] NR_037673,NM_016400,NM_001199885 SERF2-C15ORF63,HYPK,HYPK EXON Silent,Synonymous_T100T,Missense_X82R exm1157141 15 44093927 [T/C] NR_037673,NM_016400,NM_001199885 SERF2-C15ORF63,HYPK,HYPK EXON Silent,Missense_S105P,Silent exm1157144 15 44093954 [T/C] NR_037673,NM_016400,NM_001199885 SERF2-C15ORF63,HYPK,HYPK EXON Silent,Missense_R114W,Silent exm1157145 15 44093970 [A/G] NR_037673,NM_016400,NM_001199885 SERF2-C15ORF63,HYPK,HYPK EXON Silent,Missense_N119S,Silent exm1157164 15 44102033 [T/C] NM_005926 MFAP1 EXON Missense_G323S exm1157179 15 44107195 [T/C] NM_005926 MFAP1 EXON Missense_R126H exm1831646 15 44107202 [A/C] NM_005926 MFAP1 EXON Missense_A124S exm1157182 15 44109446 [T/G] NM_005926 MFAP1 EXON Missense_S94R exm1157183 15 44109452 [A/G] NM_005926 MFAP1 EXON Missense_R92C exm1831654 15 44119235 [A/C] NM_024908,NM_001167941 WDR76,WDR76 EXON Missense_S2Y,Silent exm1157197 15 44120212 [T/C] NM_024908,NM_001167941 WDR76,WDR76 EXON Missense_P37L,Silent exm1157201 15 44120297 [T/G] NM_024908,NM_001167941 WDR76,WDR76 EXON Missense_M65I,Missense_M1I exm1157202 15 44120340 [A/G] NM_024908,NM_001167941 WDR76,WDR76 EXON Missense_A80T,Missense_A16T exm1157208 15 44120385 [T/C] NM_024908,NM_001167941 WDR76,WDR76 EXON Missense_P95S,Missense_P31S exm1157209 15 44120412 [A/G] NM_024908,NM_001167941 WDR76,WDR76 EXON Missense_K104E,Missense_K40E exm1157216 15 44120559 [T/G] NM_024908,NM_001167941 WDR76,WDR76 EXON Missense_S153A,Missense_S89A exm1157218 15 44127266 [T/C] NM_024908,NM_001167941 WDR76,WDR76 EXON Missense_S157L,Missense_S93L exm1157222 15 44127290 [A/C] NM_024908,NM_001167941 WDR76,WDR76 EXON Missense_K165T,Missense_K101T exm1157232 15 44131911 [A/T] NM_024908,NM_001167941 WDR76,WDR76 EXON Missense_L239F,Missense_L175F exm1157246 15 44143370 [T/C] NM_024908,NM_001167941 WDR76,WDR76 EXON Missense_P373L,Missense_P309L exm1157264 15 44153571 [T/C] NM_024908,NM_001167941 WDR76,WDR76 EXON Missense_L535F,Missense_L471F exm1157267 15 44158381 [A/C] NM_024908,NM_001167941 WDR76,WDR76 EXON Missense_K558Q,Missense_K494Q exm1831683 15 44158549 [A/G] NM_024908,NM_001167941 WDR76,WDR76 EXON Missense_S614G,Missense_S550G exm1157277 15 44166135 [T/C] NM_032892 FRMD5 EXON Missense_R554Q exm1157283 15 44166288 [T/C] NM_032892 FRMD5 EXON Missense_R503H exm1157285 15 44166402 [A/C] NM_032892 FRMD5 EXON Missense_S465I exm1157293 15 44166570 [T/C] NM_032892 FRMD5 EXON Missense_R409Q exm1157294 15 44166583 [T/C] NM_032892 FRMD5 EXON Missense_V405M exm1157319 15 44198035 [A/G] NM_032892 FRMD5 EXON Missense_T181M exm1157321 15 44198072 [T/C] NM_032892 FRMD5 EXON Missense_E169K exm-rs2929282 15 44245931 [A/T] NM_032892 FRMD5 Silent exm1157349 15 44581508 [A/G] NM_177974,NM_138423 CASC4,CASC4 EXON Missense_R94Q,Missense_R94Q exm2267830 15 44582886 [A/G] NM_177974,NM_138423 CASC4,CASC4 Silent,Silent exm1157351 15 44615174 [G/C] NM_177974,NM_138423 CASC4,CASC4 EXON Missense_Q113H,Missense_Q113H exm1157354 15 44620912 [T/C] NM_177974,NM_138423 CASC4,CASC4 EXON Missense_L138F,Missense_L138F exm1157356 15 44620940 [A/G] NM_177974,NM_138423 CASC4,CASC4 EXON Missense_Y147C,Missense_Y147C exm1157357 15 44620975 [G/C] NM_177974,NM_138423 CASC4,CASC4 EXON Missense_E159Q,Missense_E159Q exm1157361 15 44630097 [A/C] NM_177974,NM_138423 CASC4,CASC4 EXON Missense_H238P,Missense_H238P exm1157364 15 44671920 [T/C] NM_177974,NM_138423 CASC4,CASC4 EXON Missense_H279Y,Missense_H279Y exm1157368 15 44673021 [A/C] NM_177974,NM_138423 CASC4,CASC4 EXON Missense_N307H,Missense_N307H exm1157370 15 44673052 [T/C] NM_177974,NM_138423 CASC4,CASC4 EXON Missense_P317L,Missense_P317L exm1157373 15 44673112 [A/G] NM_177974,NM_138423 CASC4,CASC4 EXON Missense_Q337R,Missense_Q337R exm1157374 15 44673140 [T/G] NM_177974,NM_138423 CASC4,CASC4 EXON Missense_K346N,Missense_K346N exm1157411 15 44788617 [T/C] NM_016396 CTDSPL2 EXON Missense_A244V exm1157431 15 44813558 [A/G] NM_016396 CTDSPL2 EXON Missense_N430S exm1157456 15 44849698 [A/G] NM_003758 EIF3J EXON Missense_A141T exm1157470 15 44855395 [T/C] NM_025137,NM_001160227 SPG11,SPG11 EXON Missense_K2419R,Missense_K2306R exm1157475 15 44855490 [T/A] NM_025137,NM_001160227 SPG11,SPG11 EXON Missense_Q2387H,Missense_Q2274H exm1157476 15 44855500 [C/G] NM_025137,NM_001160227 SPG11,SPG11 Silent,Silent exm1157479 15 44856764 [A/G] NM_025137,NM_001160227 SPG11,SPG11 EXON Missense_F2378L,Missense_F2265L exm1157481 15 44856827 [A/G] NM_025137,NM_001160227 SPG11,SPG11 EXON Missense_L2357F,Missense_L2244F exm1831825 15 44858159 [T/C] NM_025137,NM_001160227 SPG11,SPG11 EXON Missense_I2298V,Missense_I2185V exm1157493 15 44858173 [T/C] NM_025137,NM_001160227 SPG11,SPG11 EXON Missense_R2293Q,Missense_R2180Q exm1157494 15 44858174 [A/G] NM_025137,NM_001160227 SPG11,SPG11 EXON Missense_R2293W,Missense_R2180W exm1157500 15 44858499 [G/C] NM_025137,NM_001160227 SPG11,SPG11 EXON Missense_D2253E,Missense_D2140E exm1157507 15 44859744 [T/C] NM_025137,NM_001160227 SPG11,SPG11 EXON Missense_R2211H,Missense_R2098H exm1157521 15 44862776 [T/C] NM_025137,NM_001160227 SPG11,SPG11 EXON Missense_A2142T,Missense_A2029T exm1157524 15 44864905 [T/C] NM_025137,NM_001160227 SPG11,SPG11 EXON Missense_V2107I,Missense_V1994I exm1831842 15 44864940 [A/G] NM_025137,NM_001160227 SPG11,SPG11 EXON Missense_L2095S,Missense_L1982S exm1157528 15 44865000 [T/C] NM_025137,NM_001160227 SPG11,SPG11 EXON Missense_N2075S,Missense_N1962S exm1157536 15 44865940 [A/C] NM_025137,NM_001160227 SPG11,SPG11 EXON Missense_L2004V,Silent exm1157550 15 44876255 [A/G] NM_025137,NM_001160227 SPG11,SPG11 EXON Nonsense_Q1875X,Nonsense_Q1875X exm1157559 15 44876516 [T/C] NM_025137,NM_001160227 SPG11,SPG11 EXON Missense_V1788M,Missense_V1788M exm1157561 15 44876563 [T/C] NM_025137,NM_001160227 SPG11,SPG11 EXON Missense_R1772H,Missense_R1772H exm1157566 15 44877834 [A/C] NM_025137,NM_001160227 SPG11,SPG11 EXON Missense_E1707D,Missense_E1707D exm1157576 15 44881546 [A/G] NM_025137,NM_001160227 SPG11,SPG11 EXON Missense_F1604L,Missense_F1604L exm1157582 15 44884585 [T/C] NM_025137,NM_001160227 SPG11,SPG11 EXON Missense_R1563G,Missense_R1563G exm1157597 15 44888441 [T/C] NM_025137,NM_001160227 SPG11,SPG11 EXON Missense_N1425S,Missense_N1425S exm1157610 15 44890903 [T/C] NM_025137,NM_001160227 SPG11,SPG11 EXON Missense_K1273R,Missense_K1273R exm1157614 15 44892793 [G/C] NM_025137,NM_001160227 SPG11,SPG11 EXON Missense_D1186E,Missense_D1186E exm1157618 15 44900659 [T/C] NM_025137,NM_001160227 SPG11,SPG11 EXON Missense_I1146V,Missense_I1146V exm1157619 15 44900670 [G/C] NM_025137,NM_001160227 SPG11,SPG11 EXON Missense_S1142C,Missense_S1142C exm1157626 15 44903116 [A/C] NM_025137,NM_001160227 SPG11,SPG11 EXON Missense_S1071R,Missense_S1071R exm1157632 15 44905705 [T/C] NM_025137,NM_001160227 SPG11,SPG11 EXON Missense_E1023G,Missense_E1023G exm1157633 15 44907562 [T/C] NM_025137,NM_001160227 SPG11,SPG11 EXON Missense_K1013E,Missense_K1013E exm1157638 15 44907702 [T/C] NM_025137,NM_001160227 SPG11,SPG11 EXON Missense_R966H,Missense_R966H exm1157641 15 44907725 [T/G] NM_025137,NM_001160227 SPG11,SPG11 EXON Missense_E958D,Missense_E958D exm1157645 15 44912566 [A/G] NM_025137,NM_001160227 SPG11,SPG11 EXON Missense_Y886H,Missense_Y886H exm1157647 15 44914006 [A/C] NM_025137,NM_001160227 SPG11,SPG11 EXON Missense_W857C,Missense_W857C exm1157656 15 44914544 [A/C] NM_025137,NM_001160227 SPG11,SPG11 EXON Missense_V773G,Missense_V773G exm1157664 15 44918545 [T/C] NM_025137,NM_001160227 SPG11,SPG11 EXON Missense_E743G,Missense_E743G exm1157670 15 44918690 [T/C] NM_025137,NM_001160227 SPG11,SPG11 EXON Missense_A695T,Missense_A695T exm1157672 15 44918698 [A/G] NM_025137,NM_001160227 SPG11,SPG11 EXON Missense_I692T,Missense_I692T exm1157680 15 44925740 [A/C] NM_025137,NM_001160227 SPG11,SPG11 EXON Missense_D566E,Missense_D566E exm1157694 15 44943757 [A/G] NM_025137,NM_001160227 SPG11,SPG11 EXON Missense_F463S,Missense_F463S exm1157697 15 44943797 [T/C] NM_025137,NM_001160227 SPG11,SPG11 EXON Missense_I450V,Missense_I450V exm1157700 15 44943875 [T/G] NM_025137,NM_001160227 SPG11,SPG11 EXON Missense_P424T,Missense_P424T exm1157716 15 44944060 [T/C] NM_025137,NM_001160227 SPG11,SPG11 EXON Nonsense_W362X,Nonsense_W362X exm1157720 15 44944355 [G/C] NM_025137,NM_001160227 SPG11,SPG11 EXON Missense_L327V,Missense_L327V exm2276377 15 44949329 [T/A] NM_025137,NM_001160227 SPG11,SPG11 EXON Missense_N278I,Missense_N278I exm1157728 15 44949354 [T/C] NM_025137,NM_001160227 SPG11,SPG11 EXON Missense_V270I,Missense_V270I exm1157730 15 44949399 [T/C] NM_025137,NM_001160227 SPG11,SPG11 EXON Missense_K255E,Missense_K255E exm1157744 15 44951453 [A/G] NM_025137,NM_001160227 SPG11,SPG11 EXON Missense_S164L,Missense_S164L exm1157745 15 44951501 [T/C] NM_025137,NM_001160227 SPG11,SPG11 EXON Missense_S148N,Missense_S148N exm1157747 15 44952677 [T/C] NM_025137,NM_001160227 SPG11,SPG11 EXON Missense_S132N,Missense_S132N exm1157764 15 44955782 [T/C] NM_025137,NM_001160227 SPG11,SPG11 EXON Missense_M22V,Missense_M22V exm1157769 15 44955830 [T/C] NM_025137,NM_001160227 SPG11,SPG11 EXON Missense_G6R,Missense_G6R exm1157773 15 44958608 [T/G] NM_001145112 PATL2 EXON Missense_Q532P exm2223402 15 44961197 [T/C] NM_001145112 PATL2 EXON Missense_R402Q exm1157789 15 44962061 [T/C] NM_001145112 PATL2 EXON Missense_E264K exm1157790 15 44962188 [A/G] NM_001145112 PATL2 EXON Missense_P252L exm1157791 15 44962224 [T/C] NM_001145112 PATL2 EXON Missense_R240Q exm1157797 15 44964635 [A/G] NM_001145112 PATL2 EXON Missense_P156S exm1157801 15 44966389 [T/C] NM_001145112 PATL2 EXON Missense_M88V exm1157805 15 44967820 [T/C] NM_001145112 PATL2 EXON Missense_E29G exm1157806 15 44967847 [A/G] NM_001145112 PATL2 EXON Missense_L20P exm1157828 15 45047125 [A/G] NM_182985,NM_080745 TRIM69,TRIM69 EXON Missense_D12N,Silent exm1157829 15 45047134 [A/G] NM_182985,NM_080745 TRIM69,TRIM69 EXON Missense_D15N,Silent exm1157838 15 45047402 [A/G] NM_182985,NM_080745 TRIM69,TRIM69 EXON Missense_K104R,Silent exm1157845 15 45047573 [T/C] NM_182985,NM_080745 TRIM69,TRIM69 EXON Missense_T161M,Silent exm1157847 15 45048614 [T/C] NM_182985,NM_080745 TRIM69,TRIM69 EXON Missense_L178F,Missense_L19F exm1157850 15 45048651 [T/C] NM_182985,NM_080745 TRIM69,TRIM69 EXON Missense_A190V,Missense_A31V exm1157855 15 45050956 [A/T] NM_182985,NM_080745 TRIM69,TRIM69 EXON Missense_N239K,Missense_N80K exm1157865 15 45051961 [A/G] NM_182985,NM_080745 TRIM69,TRIM69 EXON Missense_M284I,Missense_M125I exm1157868 15 45052012 [G/C] NM_182985,NM_080745 TRIM69,TRIM69 EXON Missense_Q301H,Missense_Q142H exm1157870 15 45052052 [A/C] NM_182985,NM_080745 TRIM69,TRIM69 EXON Missense_Q315K,Missense_Q156K exm1157877 15 45059605 [T/C] NM_182985,NM_080745 TRIM69,TRIM69 EXON Missense_W380R,Missense_W221R exm1157880 15 45059668 [T/C] NM_182985,NM_080745 TRIM69,TRIM69 EXON Missense_R401W,Missense_R242W exm1157883 15 45059789 [A/G] NM_182985,NM_080745 TRIM69,TRIM69 EXON Missense_D441G,Missense_D282G exm1157887 15 45059824 [T/C] NM_182985,NM_080745 TRIM69,TRIM69 EXON Nonsense_Q453X,Nonsense_Q294X exm1831957 15 45059853 [A/G] NM_182985,NM_080745 TRIM69,TRIM69 EXON Missense_M462I,Missense_M303I exm2267831 15 45141373 [A/G] exm1157893 15 45248947 [A/G] NM_152448 C15orf43 EXON Missense_G11S exm1157897 15 45249121 [C/G] NM_152448 C15orf43 EXON Missense_P31R exm1157916 15 45258441 [T/G] NM_152448 C15orf43 EXON Missense_S145I exm1157924 15 45315531 [T/C] NR_034039,NM_003104 SORD,SORD EXON Silent,Missense_P17L exm1157929 15 45335602 [T/C] NR_034039,NM_003104 SORD,SORD EXON Silent,Missense_V83A exm2252164 15 45361160 [T/C] NR_034039,NM_003104 SORD,SORD EXON Silent,Synonymous_I232I exm1157972 15 45361227 [A/G] NR_034039,NM_003104 SORD,SORD EXON Silent,Missense_A255T exm1157999 15 45386358 [T/C] NM_014080 DUOX2 EXON Missense_E1546G exm1158002 15 45386392 [T/C] NM_014080 DUOX2 EXON Missense_R1535G exm1158005 15 45386467 [A/G] NM_014080 DUOX2 EXON Missense_R1510C exm1158013 15 45386876 [T/C] NM_014080 DUOX2 EXON Missense_R1470Q exm1832016 15 45386877 [A/G] NM_014080 DUOX2 EXON Missense_R1470W exm1158029 15 45387667 [T/A] NM_014080 DUOX2 EXON Missense_S1403T exm1158031 15 45387741 [T/G] NM_014080 DUOX2 EXON Missense_E1378A exm1158039 15 45388079 [A/G] NM_014080 DUOX2 EXON Missense_L1343F exm1158045 15 45388250 [A/G] NM_014080 DUOX2 EXON Missense_Y1286H exm1158046 15 45389434 [A/G] NM_014080 DUOX2 Silent exm1158047 15 45389453 [G/C] NM_014080 DUOX2 EXON Missense_A1277G exm1158063 15 45390213 [T/C] NM_014080 DUOX2 EXON Missense_V1187I exm1158066 15 45390241 [A/C] NM_014080 DUOX2 EXON Missense_Q1177H exm1158072 15 45391647 [T/C] NM_014080 DUOX2 EXON Missense_Y1150C exm1158079 15 45391908 [T/C] NM_014080 DUOX2 EXON Missense_A1123T exm1158093 15 45392075 [A/G] NM_014080 DUOX2 EXON Missense_S1067L exm1158096 15 45392253 [A/G] NM_014080 DUOX2 EXON Missense_A1060V exm1158098 15 45392277 [T/C] NM_014080 DUOX2 EXON Missense_C1052Y exm1158101 15 45392305 [T/C] NM_014080 DUOX2 EXON Missense_V1043M exm1158104 15 45392329 [T/C] NM_014080 DUOX2 EXON Missense_V1035M exm1158109 15 45392377 [T/C] NM_014080 DUOX2 EXON Missense_M1019V exm1158111 15 45392382 [T/C] NM_014080 DUOX2 EXON Missense_E1017G exm1158113 15 45392391 [A/G] NM_014080 DUOX2 EXON Missense_A1014V exm1158117 15 45393008 [A/C] NM_014080 DUOX2 EXON Missense_A984S exm1158123 15 45393418 [T/C] NM_014080 DUOX2 EXON Missense_R969Q exm1158128 15 45393437 [A/G] NM_014080 DUOX2 EXON Nonsense_R963X exm1158136 15 45394048 [T/C] NM_014080 DUOX2 EXON Missense_D932N exm1158138 15 45394057 [A/G] NM_014080 DUOX2 EXON Missense_R929W exm2223409 15 45396158 [A/C] NM_014080 DUOX2 EXON Missense_R885L exm1158149 15 45396203 [T/C] NM_014080 DUOX2 EXON Missense_D870G exm1158155 15 45396374 [A/G] NM_014080 DUOX2 EXON Nonsense_R842X exm1832064 15 45396563 [T/C] NM_014080 DUOX2 EXON Missense_V779M exm1158168 15 45397885 [A/G] NM_014080 DUOX2 EXON Missense_R764W exm1158176 15 45397993 [T/C] NM_014080 DUOX2 EXON Missense_A728T exm1158177 15 45397999 [A/G] NM_014080 DUOX2 EXON Missense_R726W exm1158182 15 45398369 [T/C] NM_014080 DUOX2 EXON Missense_R701Q exm1158184 15 45398438 [T/C] NM_014080 DUOX2 EXON Missense_H678R exm2223411 15 45398738 [A/C] NM_014080 DUOX2 EXON Missense_D645Y exm1158190 15 45398750 [T/C] NM_014080 DUOX2 EXON Missense_E641K exm1832077 15 45398759 [T/C] NM_014080 DUOX2 EXON Missense_V638M exm1158206 15 45399169 [T/A] NM_014080 DUOX2 Silent exm1158219 15 45400272 [T/C] NM_014080 DUOX2 EXON Missense_R516H exm1158220 15 45400273 [A/G] NM_014080 DUOX2 EXON Missense_R516C exm1158222 15 45400303 [T/C] NM_014080 DUOX2 EXON Missense_D506N exm1832085 15 45400391 [T/G] NM_014080 DUOX2 EXON Missense_N476K exm1158228 15 45400404 [T/G] NM_014080 DUOX2 EXON Missense_A472D exm1158231 15 45401034 [T/C] NM_014080 DUOX2 EXON Missense_D451N exm1158235 15 45401117 [A/G] NM_014080 DUOX2 EXON Missense_T423I exm1158236 15 45401120 [T/C] NM_014080 DUOX2 EXON Missense_R422H exm1158238 15 45401722 [T/C] NM_014080 DUOX2 EXON Missense_D412N exm1158253 15 45402701 [A/G] NM_014080 DUOX2 EXON Missense_P322L exm1158254 15 45402716 [T/C] NM_014080 DUOX2 EXON Missense_R317H exm1832112 15 45404115 [T/G] NM_014080 DUOX2 EXON Missense_P122T exm1158292 15 45405211 [A/G] NM_014080 DUOX2 EXON Missense_L45P exm1158313 15 45408056 [T/C] NM_207581 DUOXA2 Silent exm1158319 15 45408408 [T/C] NM_207581 DUOXA2 EXON Missense_R98C exm1158330 15 45408749 [T/A] NM_207581 DUOXA2 EXON Missense_Y126N exm2252165 15 45408892 [T/C] NM_207581 DUOXA2 EXON Synonymous_Y173Y exm1158358 15 45409778 [A/G] NM_207581,NM_001276265,NM_001276267,NM_001276268,NM_001276264,NM_144565 DUOXA2,DUOXA1,DUOXA1,DUOXA1,DUOXA1,DUOXA1 EXON Silent,Missense_R418W,Silent,Silent,Missense_R463W,Missense_R463W exm1158370 15 45409968 [T/C] NM_207581,NM_001276265,NM_001276267,NM_001276268,NM_001276264,NM_144565 DUOXA2,DUOXA1,DUOXA1,DUOXA1,DUOXA1,DUOXA1 EXON Missense_P275L,Nonsense_W354X,Silent,Silent,Nonsense_W399X,Nonsense_W399X exm-IND15-43197328 15 45410037 [I/D] NM_207581,NM_001276265,NM_001276267,NM_001276268,NM_001276264,NM_144565 DUOXA2,DUOXA1,DUOXA1,DUOXA1,DUOXA1,DUOXA1 EXON exm1158373 15 45410046 [A/G] NM_207581,NM_001276265,NM_001276267,NM_001276268,NM_001276264,NM_144565 DUOXA2,DUOXA1,DUOXA1,DUOXA1,DUOXA1,DUOXA1 EXON Missense_G301D,Silent,Silent,Silent,Silent,Silent exm1158390 15 45411396 [T/G] NM_001276265,NM_001276267,NM_001276268,NM_001276264,NM_144565,NM_001276266 DUOXA1,DUOXA1,DUOXA1,DUOXA1,DUOXA1,DUOXA1 EXON Missense_P269T,Missense_P269T,Missense_P269T,Missense_P314T,Missense_P314T,Missense_P314T exm1158391 15 45411399 [T/C] NM_001276265,NM_001276267,NM_001276268,NM_001276264,NM_144565,NM_001276266 DUOXA1,DUOXA1,DUOXA1,DUOXA1,DUOXA1,DUOXA1 EXON Missense_S268G,Missense_S268G,Missense_S268G,Missense_S313G,Missense_S313G,Missense_S313G exm1158392 15 45411419 [T/C] NM_001276265,NM_001276267,NM_001276268,NM_001276264,NM_144565,NM_001276266 DUOXA1,DUOXA1,DUOXA1,DUOXA1,DUOXA1,DUOXA1 EXON Missense_R261H,Missense_R261H,Missense_R261H,Missense_R306H,Missense_R306H,Missense_R306H exm1158395 15 45411495 [A/C] NM_001276265,NM_001276267,NM_001276268,NM_001276264,NM_144565,NM_001276266 DUOXA1,DUOXA1,DUOXA1,DUOXA1,DUOXA1,DUOXA1 EXON Missense_A236S,Missense_A236S,Missense_A236S,Missense_A281S,Missense_A281S,Missense_A281S exm1158398 15 45412333 [T/C] NM_001276265,NM_001276267,NM_001276268,NM_001276264,NM_144565,NM_001276266 DUOXA1,DUOXA1,DUOXA1,DUOXA1,DUOXA1,DUOXA1 EXON Missense_H202R,Missense_H202R,Missense_H202R,Missense_H247R,Missense_H247R,Missense_H247R exm1158401 15 45412435 [A/G] NM_001276265,NM_001276267,NM_001276268,NM_001276264,NM_144565,NM_001276266 DUOXA1,DUOXA1,DUOXA1,DUOXA1,DUOXA1,DUOXA1 EXON Missense_T168M,Missense_T168M,Missense_T168M,Missense_T213M,Missense_T213M,Missense_T213M exm1158405 15 45412823 [T/C] NM_001276265,NM_001276267,NM_001276268,NM_001276264,NM_144565,NM_001276266 DUOXA1,DUOXA1,DUOXA1,DUOXA1,DUOXA1,DUOXA1 EXON Missense_R129H,Missense_R129H,Missense_R129H,Missense_R174H,Missense_R174H,Missense_R174H exm1158409 15 45412871 [T/G] NM_001276265,NM_001276267,NM_001276268,NM_001276264,NM_144565,NM_001276266 DUOXA1,DUOXA1,DUOXA1,DUOXA1,DUOXA1,DUOXA1 EXON Missense_A113D,Missense_A113D,Missense_A113D,Missense_A158D,Missense_A158D,Missense_A158D exm1158410 15 45412888 [T/G] NM_001276265,NM_001276267,NM_001276268,NM_001276264,NM_144565,NM_001276266 DUOXA1,DUOXA1,DUOXA1,DUOXA1,DUOXA1,DUOXA1 EXON Missense_D107E,Missense_D107E,Missense_D107E,Missense_D152E,Missense_D152E,Missense_D152E exm2274747 15 45412946 [A/C] NM_001276265,NM_001276267,NM_001276268,NM_001276264,NM_144565,NM_001276266 DUOXA1,DUOXA1,DUOXA1,DUOXA1,DUOXA1,DUOXA1 EXON Missense_R88L,Missense_R88L,Missense_R88L,Missense_R133L,Missense_R133L,Missense_R133L exm1158416 15 45412947 [A/G] NM_001276265,NM_001276267,NM_001276268,NM_001276264,NM_144565,NM_001276266 DUOXA1,DUOXA1,DUOXA1,DUOXA1,DUOXA1,DUOXA1 EXON Missense_R88C,Missense_R88C,Missense_R88C,Missense_R133C,Missense_R133C,Missense_R133C exm1158422 15 45413329 [A/G] NM_001276265,NM_001276267,NM_001276268,NM_001276264,NM_144565,NM_001276266 DUOXA1,DUOXA1,DUOXA1,DUOXA1,DUOXA1,DUOXA1 EXON Silent,Silent,Silent,Missense_I99T,Missense_I99T,Missense_I99T exm1832170 15 45414395 [C/G] NM_001276265,NM_001276267,NM_001276268,NM_001276264,NM_144565,NM_001276266 DUOXA1,DUOXA1,DUOXA1,DUOXA1,DUOXA1,DUOXA1 EXON Missense_A65P,Missense_A65P,Missense_A65P,Missense_A65P,Missense_A65P,Missense_A65P exm1832171 15 45414422 [A/G] NM_001276265,NM_001276267,NM_001276268,NM_001276264,NM_144565,NM_001276266 DUOXA1,DUOXA1,DUOXA1,DUOXA1,DUOXA1,DUOXA1 EXON Missense_R56W,Missense_R56W,Missense_R56W,Missense_R56W,Missense_R56W,Missense_R56W exm1158430 15 45415157 [A/G] NM_001276265,NM_001276267,NM_001276268,NM_001276264,NM_144565,NM_001276266 DUOXA1,DUOXA1,DUOXA1,DUOXA1,DUOXA1,DUOXA1 EXON Missense_P19L,Missense_P19L,Missense_P19L,Missense_P19L,Missense_P19L,Missense_P19L exm1158435 15 45424212 [G/C] NM_017434,NM_175940 DUOX1,DUOX1 EXON Missense_W16C,Missense_W16C exm1158441 15 45426373 [A/G] NM_017434,NM_175940 DUOX1,DUOX1 EXON Missense_S58N,Missense_S58N exm1158475 15 45427756 [A/G] NM_017434,NM_175940 DUOX1,DUOX1 EXON Missense_R194G,Missense_R194G exm1158501 15 45430166 [C/G] NM_017434,NM_175940 DUOX1,DUOX1 EXON Missense_S356T,Missense_S356T exm1158507 15 45430210 [A/G] NM_017434,NM_175940 DUOX1,DUOX1 EXON Missense_E371K,Missense_E371K exm2223415 15 45431333 [T/C] NM_017434,NM_175940 DUOX1,DUOX1 EXON Nonsense_R395X,Nonsense_R395X exm1158513 15 45431655 [A/G] NM_017434,NM_175940 DUOX1,DUOX1 EXON Missense_R416H,Missense_R416H exm1158514 15 45431690 [T/C] NM_017434,NM_175940 DUOX1,DUOX1 EXON Missense_R428W,Missense_R428W exm1158532 15 45433491 [G/C] NM_017434,NM_175940 DUOX1,DUOX1 EXON Missense_L523V,Missense_L523V exm1158539 15 45433588 [A/G] NM_017434,NM_175940 DUOX1,DUOX1 EXON Missense_N555S,Missense_N555S exm1832217 15 45434195 [T/A] NM_017434,NM_175940 DUOX1,DUOX1 EXON Missense_R569S,Missense_R569S exm1158546 15 45434266 [T/C] NM_017434,NM_175940 DUOX1,DUOX1 EXON Missense_F593S,Missense_F593S exm1158549 15 45434309 [A/G] NM_017434,NM_175940 DUOX1,DUOX1 EXON Synonymous_L607L,Synonymous_L607L exm1158551 15 45435471 [A/G] NM_017434,NM_175940 DUOX1,DUOX1 EXON Missense_V636M,Missense_V636M exm1158553 15 45435486 [A/G] NM_017434,NM_175940 DUOX1,DUOX1 EXON Missense_V641M,Missense_V641M exm1158554 15 45436245 [T/C] NM_017434,NM_175940 DUOX1,DUOX1 EXON Nonsense_Q650X,Nonsense_Q650X exm1158558 15 45436293 [A/G] NM_017434,NM_175940 DUOX1,DUOX1 EXON Missense_G666R,Missense_G666R exm1158559 15 45436303 [A/G] NM_017434,NM_175940 DUOX1,DUOX1 EXON Missense_R669H,Missense_R669H exm1158561 15 45436389 [A/G] NM_017434,NM_175940 DUOX1,DUOX1 EXON Missense_G698R,Missense_G698R exm1158562 15 45436392 [T/C] NM_017434,NM_175940 DUOX1,DUOX1 EXON Missense_R699C,Missense_R699C exm1832237 15 45437132 [A/G] NM_017434,NM_175940 DUOX1,DUOX1 EXON Missense_V726M,Missense_V726M exm1158586 15 45439842 [T/C] NM_017434,NM_175940 DUOX1,DUOX1 EXON Missense_V845A,Missense_V845A exm1158589 15 45440123 [A/G] NM_017434,NM_175940 DUOX1,DUOX1 EXON Missense_R857H,Missense_R857H exm1158593 15 45440600 [T/C] NM_017434,NM_175940 DUOX1,DUOX1 EXON Missense_R925W,Missense_R925W exm1158596 15 45440621 [T/C] NM_017434,NM_175940 DUOX1,DUOX1 EXON Missense_R932C,Missense_R932C exm1158601 15 45442896 [T/C] NM_017434,NM_175940 DUOX1,DUOX1 EXON Missense_I962T,Missense_I962T exm1158604 15 45443343 [T/C] NM_017434,NM_175940 DUOX1,DUOX1 EXON Missense_R971C,Missense_R971C exm1158605 15 45443356 [T/G] NM_017434,NM_175940 DUOX1,DUOX1 EXON Missense_S975I,Missense_S975I exm1158610 15 45444133 [T/C] NM_017434,NM_175940 DUOX1,DUOX1 EXON Missense_C1026R,Missense_C1026R exm1158611 15 45444144 [C/G] NM_017434,NM_175940 DUOX1,DUOX1 EXON Missense_Q1029H,Missense_Q1029H exm1158613 15 45444164 [A/G] NM_017434,NM_175940 DUOX1,DUOX1 EXON Missense_R1036H,Missense_R1036H exm1158628 15 45444663 [A/G] NM_017434,NM_175940 DUOX1,DUOX1 EXON Missense_A1125T,Missense_A1125T exm1832261 15 45444705 [A/G] NM_017434,NM_175940 DUOX1,DUOX1 EXON Missense_V1139I,Missense_V1139I exm1158632 15 45446156 [T/C] NM_017434,NM_175940 DUOX1,DUOX1 EXON Missense_L1178F,Missense_L1178F exm1158634 15 45446192 [A/G] NM_017434,NM_175940 DUOX1,DUOX1 EXON Missense_V1190I,Missense_V1190I exm1158639 15 45448081 [A/G] NM_017434,NM_175940 DUOX1,DUOX1 EXON Missense_R1219Q,Missense_R1219Q exm1158644 15 45453075 [A/G] NM_017434,NM_175940 DUOX1,DUOX1 EXON Missense_R1248H,Missense_R1248H exm1158646 15 45453119 [A/G] NM_017434,NM_175940 DUOX1,DUOX1 EXON Missense_D1263N,Missense_D1263N exm1158677 15 45455749 [T/C] NM_017434,NM_175940 DUOX1,DUOX1 EXON Missense_T1423M,Missense_T1423M exm1158678 15 45455751 [T/C] NM_017434,NM_175940 DUOX1,DUOX1 EXON Missense_R1424W,Missense_R1424W exm1158689 15 45456025 [A/G] NM_017434,NM_175940 DUOX1,DUOX1 EXON Missense_R1481Q,Missense_R1481Q exm1158690 15 45456046 [A/G] NM_017434,NM_175940 DUOX1,DUOX1 EXON Missense_R1488H,Missense_R1488H exm1158697 15 45457004 [C/G] NM_017434,NM_175940 DUOX1,DUOX1 EXON Missense_G1521R,Missense_G1521R exm1158699 15 45457077 [T/C] NM_017434,NM_175940 DUOX1,DUOX1 EXON Missense_S1545F,Missense_S1545F exm1158721 15 45464510 [A/G] NM_138356 SHF EXON Missense_F267S exm1158726 15 45467437 [T/C] NM_138356 SHF EXON Missense_R211Q exm1158729 15 45467540 [G/C] NM_138356 SHF EXON Missense_A177P exm1158732 15 45470364 [A/G] NM_138356 SHF EXON Synonymous_A148A exm1158742 15 45470476 [A/G] NM_138356 SHF EXON Missense_P111L exm2264557 15 45474371 [A/C] NM_138356 SHF Silent exm1158745 15 45490974 [T/C] NM_138356 SHF EXON Missense_R100H exm1158746 15 45490988 [G/C] NM_138356 SHF EXON Missense_D95E exm1158751 15 45491082 [A/G] NM_138356 SHF EXON Missense_S64L exm1158754 15 45491136 [G/C] NM_138356 SHF EXON Missense_W46S exm1158765 15 45545437 [T/G] NM_004212 SLC28A2 EXON Missense_Q8H exm1158768 15 45545478 [T/C] NM_004212 SLC28A2 EXON Missense_P22L exm1158769 15 45545480 [T/G] NM_004212 SLC28A2 EXON Missense_G23W exm1158775 15 45554214 [A/C] NM_004212 SLC28A2 EXON Synonymous_R58R exm1158777 15 45554221 [A/G] NM_004212 SLC28A2 EXON Missense_R60Q exm1158785 15 45555421 [A/G] NM_004212 SLC28A2 EXON Missense_R142H exm1158789 15 45556120 [T/G] NM_004212 SLC28A2 EXON Missense_L163W exm1158790 15 45556148 [T/G] NM_004212 SLC28A2 EXON Missense_E172D exm1158793 15 45556211 [A/C] NM_004212 SLC28A2 EXON Missense_H193Q exm1158800 15 45557318 [G/C] NM_004212 SLC28A2 EXON Missense_S245T exm1158807 15 45558304 [T/C] NM_004212 SLC28A2 EXON Missense_M296T exm1158813 15 45559682 [A/C] NM_004212 SLC28A2 EXON Nonsense_Y324X exm1158817 15 45559714 [T/C] NM_004212 SLC28A2 EXON Missense_A335V exm1158820 15 45559774 [T/C] NM_004212 SLC28A2 EXON Missense_F355S exm1158839 15 45560574 [G/C] NM_004212 SLC28A2 EXON Missense_Q456E exm1158840 15 45561551 [T/C] NM_004212 SLC28A2 EXON Missense_L462F exm1158842 15 45561603 [T/C] NM_004212 SLC28A2 EXON Missense_M479T exm1158843 15 45561608 [T/G] NM_004212 SLC28A2 EXON Missense_A481S exm2223424 15 45561614 [T/A] NM_004212 SLC28A2 EXON Missense_M483L exm1158847 15 45561710 [C/G] NM_004212 SLC28A2 EXON Missense_E515Q exm1158851 15 45562445 [C/G] NM_004212 SLC28A2 EXON Missense_S540T exm1158861 15 45564959 [A/G] NM_004212 SLC28A2 EXON Missense_M612I exm-rs1706824 15 45579948 [T/C] exm-rs2453533 15 45641225 [A/C] exm1158873 15 45656996 [A/G] NM_001482 GATM EXON Synonymous_D347D exm1158882 15 45658681 [T/C] NM_001482 GATM EXON Missense_D234G exm1158883 15 45658690 [C/G] NM_001482 GATM EXON Missense_S231C exm1158891 15 45661601 [A/G] NM_001482 GATM EXON Missense_T136M exm1158893 15 45661678 [T/A] NM_001482 GATM EXON Missense_Q110H exm2274748 15 45668808 [G/C] NM_001482 GATM EXON Missense_I93M exm1158913 15 45694653 [T/C] NM_024063,NR_027635 SPATA5L1,SPATA5L1 EXON Missense_P9L,Silent exm1158918 15 45694815 [T/C] NM_024063,NR_027635 SPATA5L1,SPATA5L1 EXON Missense_P63L,Silent exm1158929 15 45695093 [A/G] NM_024063,NR_027635 SPATA5L1,SPATA5L1 EXON Missense_A156T,Silent exm1158954 15 45695570 [C/G] NM_024063,NR_027635 SPATA5L1,SPATA5L1 EXON Missense_R315G,Silent exm1158956 15 45695625 [T/G] NM_024063,NR_027635 SPATA5L1,SPATA5L1 EXON Missense_S333I,Silent exm1158970 15 45697576 [T/C] NM_024063,NR_027635 SPATA5L1,SPATA5L1 EXON Missense_S383L,Silent exm-rs2467853 15 45698793 [T/G] NM_024063,NR_027635 SPATA5L1,SPATA5L1 Silent,Silent exm1158982 15 45702702 [G/C] NM_024063,NR_027635 SPATA5L1,SPATA5L1 EXON Missense_E470Q,Silent exm1158990 15 45707855 [T/C] NM_024063,NR_027635 SPATA5L1,SPATA5L1 EXON Missense_A572V,Silent exm1158992 15 45707861 [T/C] NM_024063,NR_027635 SPATA5L1,SPATA5L1 EXON Missense_S574L,Silent exm1158996 15 45707914 [A/G] NM_024063,NR_027635 SPATA5L1,SPATA5L1 EXON Missense_N592D,Silent exm1832387 15 45707953 [A/G] NM_024063,NR_027635 SPATA5L1,SPATA5L1 EXON Missense_R605G,Silent exm1158999 15 45709488 [A/G] NM_024063,NR_027635 SPATA5L1,SPATA5L1 EXON Missense_R620Q,Silent exm1159003 15 45710756 [A/G] NM_024063,NR_027635 SPATA5L1,SPATA5L1 EXON Missense_G657D,Silent exm1159008 15 45713359 [A/G] NM_024063,NR_027635 SPATA5L1,SPATA5L1 EXON Missense_Y738C,Silent exm1159015 15 45723032 [T/G] NM_197955,NM_032413 C15orf48,C15orf48 Silent,Silent exm1832399 15 45723248 [G/C] NM_197955,NM_032413 C15orf48,C15orf48 EXON Missense_S29C,Missense_S29C exm1159019 15 45723265 [G/C] NM_197955,NM_032413 C15orf48,C15orf48 EXON Missense_L35V,Missense_L35V exm2223425 15 45779725 [T/C] NM_013309 SLC30A4 EXON Missense_G334S exm1159055 15 45814263 [T/C] NM_013309,NR_022014 SLC30A4,HMGN2P46 EXON Missense_N97S,Silent exm1159109 15 45898654 [A/G] NM_012388 BLOC1S6 EXON Missense_R154Q exm1159117 15 45951224 [A/G] NM_001271213,NM_021199 SQRDL,SQRDL EXON Missense_G35R,Missense_G35R exm1159119 15 45951257 [A/G] NM_001271213,NM_021199 SQRDL,SQRDL EXON Missense_V46M,Missense_V46M exm1159139 15 45965832 [T/C] NM_001271213,NM_021199 SQRDL,SQRDL EXON Missense_H163Y,Missense_H163Y exm1159144 15 45965895 [A/G] NM_001271213,NM_021199 SQRDL,SQRDL EXON Missense_D184N,Missense_D184N exm1159147 15 45968402 [A/G] NM_001271213,NM_021199 SQRDL,SQRDL EXON Missense_R253Q,Missense_R253Q exm1159148 15 45968435 [T/C] NM_001271213,NM_021199 SQRDL,SQRDL EXON Missense_I264T,Missense_I264T exm1159160 15 45974763 [A/G] NM_001271213,NM_021199 SQRDL,SQRDL EXON Missense_V318M,Missense_V318M exm2252167 15 45981317 [A/G] NM_001271213,NM_021199 SQRDL,SQRDL EXON Synonymous_P399P,Synonymous_P399P exm1159176 15 45983200 [A/G] NM_001271213,NM_021199 SQRDL,SQRDL EXON Missense_R442H,Missense_R442H exm-rs12594515 15 45985071 [G/C] exm2252168 15 46040457 [T/G] exm2267766 15 46605049 [A/G] exm2272237 15 46850179 [T/G] exm2267832 15 47171870 [A/G] exm2272238 15 47580939 [T/C] NM_001198999 SEMA6D Silent exm-rs4775699 15 47873549 [T/C] NM_001198999 SEMA6D Silent exm2267767 15 47990840 [A/G] NM_001198999 SEMA6D Silent exm1159186 15 48052588 [A/G] NM_001198999,NM_020858,NM_024966,NM_153619,NM_153617,NM_153616,NM_153618 SEMA6D,SEMA6D,SEMA6D,SEMA6D,SEMA6D,SEMA6D,SEMA6D EXON Missense_R66Q,Missense_R66Q,Missense_R66Q,Missense_R66Q,Missense_R66Q,Missense_R66Q,Missense_R66Q exm1159192 15 48053367 [G/C] NM_001198999,NM_020858,NM_024966,NM_153619,NM_153617,NM_153616,NM_153618 SEMA6D,SEMA6D,SEMA6D,SEMA6D,SEMA6D,SEMA6D,SEMA6D EXON Missense_R99G,Missense_R99G,Missense_R99G,Missense_R99G,Missense_R99G,Missense_R99G,Missense_R99G exm1159193 15 48053368 [A/G] NM_001198999,NM_020858,NM_024966,NM_153619,NM_153617,NM_153616,NM_153618 SEMA6D,SEMA6D,SEMA6D,SEMA6D,SEMA6D,SEMA6D,SEMA6D EXON Missense_R99Q,Missense_R99Q,Missense_R99Q,Missense_R99Q,Missense_R99Q,Missense_R99Q,Missense_R99Q exm1159210 15 48056050 [A/G] NM_001198999,NM_020858,NM_024966,NM_153619,NM_153617,NM_153616,NM_153618 SEMA6D,SEMA6D,SEMA6D,SEMA6D,SEMA6D,SEMA6D,SEMA6D EXON Missense_V251M,Missense_V251M,Missense_V251M,Missense_V251M,Missense_V251M,Missense_V251M,Missense_V251M exm1159215 15 48056197 [A/G] NM_001198999,NM_020858,NM_024966,NM_153619,NM_153617,NM_153616,NM_153618 SEMA6D,SEMA6D,SEMA6D,SEMA6D,SEMA6D,SEMA6D,SEMA6D EXON Missense_I300V,Missense_I300V,Missense_I300V,Missense_I300V,Missense_I300V,Missense_I300V,Missense_I300V exm1159217 15 48056219 [A/G] NM_001198999,NM_020858,NM_024966,NM_153619,NM_153617,NM_153616,NM_153618 SEMA6D,SEMA6D,SEMA6D,SEMA6D,SEMA6D,SEMA6D,SEMA6D EXON Missense_N307S,Missense_N307S,Missense_N307S,Missense_N307S,Missense_N307S,Missense_N307S,Missense_N307S exm2252173 15 48056856 [T/C] NM_001198999,NM_020858,NM_024966,NM_153619,NM_153617,NM_153616,NM_153618 SEMA6D,SEMA6D,SEMA6D,SEMA6D,SEMA6D,SEMA6D,SEMA6D EXON Synonymous_H373H,Synonymous_H373H,Synonymous_H373H,Synonymous_H373H,Synonymous_H373H,Synonymous_H373H,Synonymous_H373H exm1159233 15 48057109 [A/G] NM_001198999,NM_020858,NM_024966,NM_153619,NM_153617,NM_153616,NM_153618 SEMA6D,SEMA6D,SEMA6D,SEMA6D,SEMA6D,SEMA6D,SEMA6D EXON Missense_H428R,Missense_H428R,Missense_H428R,Missense_H428R,Missense_H428R,Missense_H428R,Missense_H428R exm1159243 15 48058071 [A/G] NM_001198999,NM_020858,NM_153619,NM_153617,NM_153616,NM_153618 SEMA6D,SEMA6D,SEMA6D,SEMA6D,SEMA6D,SEMA6D EXON Missense_S478N,Missense_S478N,Missense_S478N,Missense_S478N,Missense_S478N,Missense_S478N exm1159257 15 48059278 [A/G] NM_001198999,NM_020858,NM_153619,NM_153617,NM_153616,NM_153618 SEMA6D,SEMA6D,SEMA6D,SEMA6D,SEMA6D,SEMA6D EXON Silent,Silent,Silent,Missense_G585S,Silent,Missense_G585S exm1159272 15 48062994 [A/G] NM_001198999,NM_020858,NM_153619,NM_153617,NM_153616,NM_153618 SEMA6D,SEMA6D,SEMA6D,SEMA6D,SEMA6D,SEMA6D EXON Missense_R683Q,Missense_R683Q,Silent,Missense_R689Q,Missense_R670Q,Missense_R745Q exm1159275 15 48063045 [A/G] NM_001198999,NM_020858,NM_153619,NM_153617,NM_153616,NM_153618 SEMA6D,SEMA6D,SEMA6D,SEMA6D,SEMA6D,SEMA6D EXON Missense_R700Q,Missense_R700Q,Silent,Missense_R706Q,Missense_R687Q,Missense_R762Q exm1159285 15 48063368 [T/C] NM_001198999,NM_020858,NM_153619,NM_153617,NM_153616,NM_153618 SEMA6D,SEMA6D,SEMA6D,SEMA6D,SEMA6D,SEMA6D EXON Missense_R808W,Missense_R808W,Silent,Missense_R814W,Missense_R795W,Missense_R870W exm1159304 15 48063734 [C/G] NM_001198999,NM_020858,NM_153619,NM_153617,NM_153616,NM_153618 SEMA6D,SEMA6D,SEMA6D,SEMA6D,SEMA6D,SEMA6D EXON Missense_Q930E,Missense_Q930E,Silent,Missense_Q936E,Missense_Q917E,Missense_Q992E exm1159310 15 48063806 [T/C] NM_001198999,NM_020858,NM_153619,NM_153617,NM_153616,NM_153618 SEMA6D,SEMA6D,SEMA6D,SEMA6D,SEMA6D,SEMA6D EXON Missense_P954S,Missense_P954S,Silent,Missense_P960S,Missense_P941S,Missense_P1016S exm-rs1982473 15 48254702 [A/G] exm2260437 15 48392165 [A/G] exm2223432 15 48413251 [A/G] NM_205850 SLC24A5 EXON Missense_K4E exm1159330 15 48426484 [A/G] NM_205850 SLC24A5 EXON Missense_T111A exm1159331 15 48426500 [C/G] NM_205850 SLC24A5 EXON Missense_A116G exm1159333 15 48426634 [A/G] NM_205850 SLC24A5 EXON Missense_V130I exm1159349 15 48429064 [T/C] NM_205850 SLC24A5 EXON Missense_R259C exm1159351 15 48429118 [C/G] NM_205850 SLC24A5 EXON Missense_Q277E exm1159352 15 48429128 [T/C] NM_205850 SLC24A5 EXON Missense_I280T exm1159361 15 48431282 [T/C] NM_205850 SLC24A5 EXON Missense_W330R exm1832677 15 48431319 [T/C] NM_205850 SLC24A5 EXON Missense_A342V exm1159379 15 48434487 [T/C] NM_205850,NM_016132 SLC24A5,MYEF2 EXON Missense_L481S,Silent exm1159387 15 48441554 [T/C] NM_016132 MYEF2 EXON Missense_S465G exm1159389 15 48443356 [A/G] NM_016132 MYEF2 EXON Missense_I440T exm1159392 15 48443699 [T/C] NM_016132 MYEF2 EXON Missense_Q426R exm1159402 15 48444430 [A/C] NM_016132 MYEF2 Silent exm1832703 15 48445995 [A/G] NM_016132 MYEF2 EXON Missense_P361S exm1159422 15 48451072 [T/C] NM_016132 MYEF2 EXON Missense_I255M exm1159431 15 48451895 [G/C] NM_016132 MYEF2 EXON Missense_S211C exm1159433 15 48451974 [A/C] NM_016132 MYEF2 EXON Missense_A185S exm1159441 15 48460927 [T/C] NM_016132 MYEF2 EXON Missense_A91T exm1159442 15 48460932 [A/G] NM_016132 MYEF2 EXON Missense_S89L exm1159451 15 48493739 [T/C] NM_001145668 CTXN2 EXON Missense_A81V exm1159454 15 48499975 [A/G] NM_001184832,NM_000338 SLC12A1,SLC12A1 EXON Missense_R20H,Missense_R20H exm1159455 15 48499987 [A/G] NM_001184832,NM_000338 SLC12A1,SLC12A1 EXON Missense_S24N,Missense_S24N exm1159456 15 48500004 [G/C] NM_001184832,NM_000338 SLC12A1,SLC12A1 EXON Missense_H30D,Missense_H30D exm1159465 15 48500122 [T/G] NM_001184832,NM_000338 SLC12A1,SLC12A1 EXON Missense_C69F,Missense_C69F exm1159470 15 48500263 [A/G] NM_001184832,NM_000338 SLC12A1,SLC12A1 EXON Missense_R116H,Missense_R116H exm1159475 15 48500331 [A/G] NM_001184832,NM_000338 SLC12A1,SLC12A1 EXON Missense_A139T,Missense_A139T exm1832728 15 48512855 [A/G] NM_001184832,NM_000338 SLC12A1,SLC12A1 EXON Missense_A149T,Missense_A149T exm1159479 15 48512888 [A/G] NM_001184832,NM_000338 SLC12A1,SLC12A1 EXON Missense_G160R,Missense_G160R exm1159480 15 48512907 [A/G] NM_001184832,NM_000338 SLC12A1,SLC12A1 EXON Missense_N166S,Missense_N166S exm1159483 15 48518739 [T/C] NM_001184832,NM_000338 SLC12A1,SLC12A1 EXON Silent,Missense_A232V exm1159505 15 48527104 [A/G] NM_001184832,NM_000338 SLC12A1,SLC12A1 EXON Missense_R373H,Missense_R373H exm1832756 15 48539196 [A/G] NM_001184832,NM_000338 SLC12A1,SLC12A1 EXON Missense_A515T,Missense_A515T exm1159531 15 48548046 [A/G] NM_001184832,NM_000338 SLC12A1,SLC12A1 EXON Missense_V661M,Missense_V661M exm1159543 15 48559801 [T/C] NM_001184832,NM_000338 SLC12A1,SLC12A1 EXON Missense_A733V,Missense_A733V exm1159545 15 48559812 [A/G] NM_001184832,NM_000338 SLC12A1,SLC12A1 EXON Missense_A737T,Missense_A737T exm1832771 15 48559813 [T/C] NM_001184832,NM_000338 SLC12A1,SLC12A1 EXON Missense_A737V,Missense_A737V exm1159548 15 48559858 [T/C] NM_001184832,NM_000338 SLC12A1,SLC12A1 EXON Missense_A752V,Missense_A752V exm2223442 15 48559881 [A/G] NM_001184832,NM_000338 SLC12A1,SLC12A1 EXON Missense_V760I,Missense_V760I exm1159551 15 48559885 [A/G] NM_001184832,NM_000338 SLC12A1,SLC12A1 EXON Missense_R761Q,Missense_R761Q exm1159553 15 48559890 [G/C] NM_001184832,NM_000338 SLC12A1,SLC12A1 EXON Missense_L763V,Missense_L763V exm1159557 15 48561921 [A/G] NM_001184832,NM_000338 SLC12A1,SLC12A1 EXON Missense_A788T,Missense_A788T exm1159565 15 48577387 [A/T] NM_001184832,NM_000338 SLC12A1,SLC12A1 EXON Missense_I857N,Missense_I857N exm1159572 15 48580713 [T/C] NM_001184832,NM_000338 SLC12A1,SLC12A1 EXON Missense_V958A,Missense_V958A exm1159579 15 48584059 [C/G] NM_001184832,NM_000338 SLC12A1,SLC12A1 EXON Missense_E986D,Missense_E986D exm1159582 15 48591366 [T/C] NM_001184832,NM_000338 SLC12A1,SLC12A1 EXON Missense_P997L,Missense_P997L exm1159583 15 48591372 [A/G] NM_001184832,NM_000338 SLC12A1,SLC12A1 EXON Missense_R999H,Missense_R999H exm1159588 15 48593528 [A/G] NM_001184832,NM_000338 SLC12A1,SLC12A1 EXON Missense_R1038Q,Missense_R1038Q exm1159600 15 48623812 [A/G] NM_001025249,NM_001025248 DUT,DUT EXON Silent,Missense_E34K exm-rs11637235 15 48633153 [T/C] NM_001025249,NM_001025248,NM_001948 DUT,DUT,DUT Silent,Silent,Silent exm2264573 15 48657423 [A/C] exm2267768 15 48702873 [A/G] NM_000138 FBN1 EXON Silent exm1832806 15 48703261 [T/G] NM_000138 FBN1 EXON Missense_K2848Q exm1159636 15 48703440 [A/G] NM_000138 FBN1 EXON Missense_T2788M exm1159646 15 48704803 [T/C] NM_000138 FBN1 EXON Missense_R2730Q exm1159648 15 48704816 [A/G] NM_000138 FBN1 EXON Missense_R2726W exm1159657 15 48707820 [A/G] NM_000138 FBN1 EXON Missense_A2655V exm1159662 15 48707932 [T/C] NM_000138 FBN1 EXON Missense_G2618R exm1159665 15 48707938 [T/C] NM_000138 FBN1 EXON Missense_I2616V exm1159671 15 48713793 [T/C] NM_000138 FBN1 EXON Missense_R2554Q exm1159687 15 48717673 [T/C] NM_000138 FBN1 EXON Missense_N2449S exm1159694 15 48719896 [T/C] NM_000138 FBN1 EXON Missense_V2358I exm1832844 15 48722907 [A/G] NM_000138 FBN1 EXON Missense_P2278S exm1159710 15 48725102 [T/C] NM_000138 FBN1 EXON Missense_V2234M exm1159727 15 48729976 [A/G] NM_000138 FBN1 EXON Missense_T2101M exm1159729 15 48734008 [A/C] NM_000138 FBN1 EXON Missense_A2025S exm1159763 15 48758053 [T/C] NM_000138 FBN1 EXON Missense_E1584K exm1159773 15 48762849 [T/C] NM_000138 FBN1 EXON Missense_S1481G exm1159777 15 48764814 [G/C] NM_000138 FBN1 EXON Missense_P1424A exm2223448 15 48773920 [A/G] NM_000138 FBN1 EXON Missense_T1299M exm1159785 15 48773926 [T/C] NM_000138 FBN1 EXON Missense_E1297G exm1159792 15 48779352 [T/C] NM_000138 FBN1 EXON Missense_R1170H exm1159800 15 48779530 [C/G] NM_000138 FBN1 EXON Missense_P1148A exm1159804 15 48779550 [A/G] NM_000138 FBN1 EXON Missense_P1141L exm2252178 15 48780602 [A/G] NM_000138 FBN1 EXON Synonymous_S1057S exm1159817 15 48782072 [T/C] NM_000138 FBN1 EXON Missense_T1020A exm1159818 15 48782104 [G/C] NM_000138 FBN1 EXON Missense_P1009R exm1159819 15 48782174 [T/C] NM_000138 FBN1 EXON Missense_A986T exm1159821 15 48782196 [G/C] NM_000138 FBN1 EXON Missense_D978E exm1159874 15 48807637 [T/C] NM_000138 FBN1 EXON Missense_C472Y exm1159886 15 48808442 [T/C] NM_000138 FBN1 EXON Missense_G422E exm1159893 15 48812974 [T/C] NM_000138 FBN1 EXON Synonymous_G343G exm2252179 15 48812974 [T/C] NM_000138 FBN1 EXON Synonymous_G343G exm1159894 15 48812976 [T/C] NM_000138 FBN1 EXON Missense_G343R exm1159895 15 48818329 [A/G] NM_000138 FBN1 EXON Missense_I329T exm1159899 15 48818430 [A/C] NM_000138 FBN1 EXON Missense_I295M exm2274749 15 48826343 [T/C] NM_000138 FBN1 EXON Missense_V266I exm1159933 15 48936884 [T/C] NM_000138 FBN1 EXON Missense_N28S exm2223454 15 48936888 [T/C] NM_000138 FBN1 EXON Missense_A27T exm1159953 15 49030795 [A/G] NM_014985,NM_001194998 CEP152,CEP152 EXON Missense_P1539L,Missense_P1595L exm1832961 15 49030822 [C/G] NM_014985,NM_001194998 CEP152,CEP152 EXON Missense_R1530P,Missense_R1586P exm1159981 15 49031371 [A/G] NM_014985,NM_001194998 CEP152,CEP152 EXON Missense_T1347I,Missense_T1403I exm2223456 15 49031404 [A/G] NM_014985,NM_001194998 CEP152,CEP152 EXON Missense_I1336T,Missense_I1392T exm1832972 15 49033797 [A/C] NM_014985,NM_001194998 CEP152,CEP152 Silent,Silent exm1159986 15 49033804 [A/G] NM_014985,NM_001194998 CEP152,CEP152 EXON Nonsense_Q1307X,Nonsense_Q1363X exm1159987 15 49033814 [C/G] NM_014985,NM_001194998 CEP152,CEP152 EXON Missense_S1303R,Missense_S1359R exm1159988 15 49033819 [C/G] NM_014985,NM_001194998 CEP152,CEP152 EXON Missense_Q1302E,Missense_Q1358E exm2252180 15 49036492 [G/C] NM_014985,NM_001194998 CEP152,CEP152 EXON Synonymous_G1204G,Synonymous_G1260G exm1159997 15 49036500 [A/G] NM_014985,NM_001194998 CEP152,CEP152 EXON Missense_C1202R,Missense_C1258R exm1160002 15 49037112 [C/G] NM_014985,NM_001194998 CEP152,CEP152 EXON Missense_L1182V,Missense_L1238V exm1160011 15 49044618 [C/G] NM_014985,NM_001194998 CEP152,CEP152 EXON Missense_Q1132E,Missense_Q1132E exm1160014 15 49044657 [T/C] NM_014985,NM_001194998 CEP152,CEP152 EXON Missense_A1119T,Missense_A1119T exm1160015 15 49048120 [G/C] NM_014985,NM_001194998 CEP152,CEP152 EXON Missense_A1109P,Missense_A1109P exm1160017 15 49048128 [A/G] NM_014985,NM_001194998 CEP152,CEP152 EXON Missense_V1106A,Missense_V1106A exm1160018 15 49048132 [C/G] NM_014985,NM_001194998 CEP152,CEP152 EXON Missense_L1105V,Missense_L1105V exm1160021 15 49048206 [T/C] NM_014985,NM_001194998 CEP152,CEP152 EXON Missense_K1080R,Missense_K1080R exm1160031 15 49048567 [A/G] NM_014985,NM_001194998 CEP152,CEP152 EXON Missense_W960R,Missense_W960R exm1160033 15 49048617 [T/C] NM_014985,NM_001194998 CEP152,CEP152 EXON Missense_E943G,Missense_E943G exm2223458 15 49048641 [T/C] NM_014985,NM_001194998 CEP152,CEP152 EXON Missense_Q935R,Missense_Q935R exm1832983 15 49048668 [A/T] NM_014985,NM_001194998 CEP152,CEP152 EXON Missense_E926V,Missense_E926V exm1160037 15 49048705 [C/G] NM_014985,NM_001194998 CEP152,CEP152 EXON Missense_L914V,Missense_L914V exm1832986 15 49052345 [A/G] NM_014985,NM_001194998 CEP152,CEP152 EXON Missense_S894F,Missense_S894F exm1160043 15 49054772 [A/C] NM_014985,NM_001194998 CEP152,CEP152 EXON Missense_S793I,Missense_S793I exm1832990 15 49054809 [T/C] NM_014985,NM_001194998 CEP152,CEP152 EXON Missense_I781V,Missense_I781V exm1160045 15 49054827 [A/C] NM_014985,NM_001194998 CEP152,CEP152 EXON Missense_S775A,Missense_S775A exm1160054 15 49059638 [A/G] NM_014985,NM_001194998 CEP152,CEP152 EXON Missense_H681Y,Missense_H681Y exm1160056 15 49059645 [A/C] NM_014985,NM_001194998 CEP152,CEP152 EXON Nonsense_Y678X,Nonsense_Y678X exm1160057 15 49060434 [T/C] NM_014985,NM_001194998 CEP152,CEP152 EXON Missense_K667R,Missense_K667R exm1160066 15 49064889 [T/C] NM_014985,NM_001194998 CEP152,CEP152 Silent,Silent exm1160082 15 49076311 [T/C] NM_014985,NM_001194998 CEP152,CEP152 EXON Missense_I394V,Missense_I394V exm1160088 15 49081189 [T/G] NM_014985,NM_001194998 CEP152,CEP152 EXON Missense_K328Q,Missense_K328Q exm1160092 15 49083481 [T/G] NM_014985,NM_001194998 CEP152,CEP152 EXON Missense_K309Q,Missense_K309Q exm1160100 15 49085583 [A/G] NM_014985,NM_001194998 CEP152,CEP152 EXON Missense_I256T,Missense_I256T exm1160104 15 49088213 [T/G] NM_014985,NM_001194998 CEP152,CEP152 EXON Missense_N229H,Missense_N229H exm1160106 15 49088231 [A/G] NM_014985,NM_001194998 CEP152,CEP152 EXON Nonsense_Q223X,Nonsense_Q223X exm1160109 15 49088254 [T/C] NM_014985,NM_001194998 CEP152,CEP152 EXON Missense_S215N,Missense_S215N exm1160113 15 49088357 [G/C] NM_014985,NM_001194998 CEP152,CEP152 EXON Missense_G181R,Missense_G181R exm1160128 15 49090175 [A/G] NM_014985,NM_001194998 CEP152,CEP152 EXON Missense_S54L,Missense_S54L exm1160137 15 49097786 [T/C] NM_014985,NM_001194998 CEP152,CEP152 EXON Missense_E21K,Missense_E21K exm1160139 15 49097812 [A/G] NM_014985,NM_001194998 CEP152,CEP152 EXON Missense_V12A,Missense_V12A exm1160145 15 49118181 [T/G] NM_203349 SHC4 EXON Missense_H627P exm1160163 15 49135728 [A/G] NM_203349 SHC4 EXON Missense_T454M exm1160172 15 49148192 [T/G] NM_203349 SHC4 EXON Missense_Q400H exm1160173 15 49148199 [A/G] NM_203349 SHC4 EXON Missense_T398M exm1160174 15 49148218 [A/G] NM_203349 SHC4 EXON Missense_R392W exm2223462 15 49148241 [C/G] NM_203349 SHC4 EXON Missense_P384R exm1160175 15 49148265 [T/C] NM_203349 SHC4 EXON Missense_N376S exm1160178 15 49148310 [T/C] NM_203349 SHC4 EXON Missense_H361R exm1160182 15 49149937 [T/C] NM_203349 SHC4 EXON Missense_R341Q exm1160186 15 49149988 [T/C] NM_203349 SHC4 EXON Missense_N324S exm1160187 15 49160014 [T/C] NM_203349 SHC4 Silent exm1160210 15 49182965 [T/C] NM_203349 SHC4 EXON Missense_G234R exm-rs4775785 15 49192326 [T/C] NM_203349 SHC4 Silent exm-rs8023445 15 49192791 [T/C] NM_203349 SHC4 Silent exm1160225 15 49254761 [A/C] NM_203349 SHC4 EXON Missense_V151G exm1160226 15 49254773 [T/G] NM_203349 SHC4 EXON Missense_Q147P exm1160233 15 49254972 [T/C] NM_203349 SHC4 EXON Missense_T81A exm1160234 15 49254974 [A/G] NM_203349 SHC4 EXON Missense_P80L exm1160236 15 49255046 [A/G] NM_203349 SHC4 EXON Missense_P56L exm1160239 15 49255089 [C/G] NM_203349 SHC4 EXON Missense_D42H exm1160245 15 49284452 [A/G] NM_014701,NM_001193489 SECISBP2L,SECISBP2L EXON Nonsense_Q1054X,Nonsense_Q1099X exm1160248 15 49284484 [T/C] NM_014701,NM_001193489 SECISBP2L,SECISBP2L EXON Missense_N1043S,Missense_N1088S exm1160250 15 49284490 [A/G] NM_014701,NM_001193489 SECISBP2L,SECISBP2L EXON Missense_S1041L,Missense_S1086L exm1160253 15 49284631 [A/C] NM_014701,NM_001193489 SECISBP2L,SECISBP2L EXON Missense_G994V,Missense_G1039V exm2252181 15 49284842 [T/G] NM_014701,NM_001193489 SECISBP2L,SECISBP2L EXON Synonymous_R924R,Synonymous_R969R exm1160261 15 49284971 [T/C] NM_014701,NM_001193489 SECISBP2L,SECISBP2L EXON Missense_T881A,Missense_T926A exm1160269 15 49288702 [T/G] NM_014701,NM_001193489 SECISBP2L,SECISBP2L EXON Missense_Q784K,Missense_Q829K exm1160277 15 49293194 [A/C] NM_014701,NM_001193489 SECISBP2L,SECISBP2L EXON Missense_V665L,Missense_V710L exm1160295 15 49309158 [T/C] NM_014701,NM_001193489 SECISBP2L,SECISBP2L EXON Missense_I391V,Missense_I436V exm1160301 15 49320350 [T/C] NM_014701,NM_001193489 SECISBP2L,SECISBP2L EXON Missense_M304V,Missense_M304V exm1160306 15 49320795 [A/G] NM_014701,NM_001193489 SECISBP2L,SECISBP2L EXON Missense_A250V,Missense_A250V exm1160311 15 49325225 [T/C] NM_014701,NM_001193489 SECISBP2L,SECISBP2L EXON Missense_N201D,Missense_N201D exm1160327 15 49329828 [T/C] NM_014701,NM_001193489 SECISBP2L,SECISBP2L EXON Missense_I55V,Missense_I55V exm2252182 15 49450944 [T/C] NM_001001556 GALK2 Silent exm1160363 15 49462527 [A/C] NM_001001556,NM_002044 GALK2,GALK2 EXON Silent,Missense_T3K exm1160369 15 49509395 [A/G] NM_001001556,NM_002044 GALK2,GALK2 EXON Missense_I40V,Missense_I51V exm1160371 15 49509434 [T/G] NM_001001556,NM_002044 GALK2,GALK2 EXON Nonsense_E53X,Nonsense_E64X exm1160374 15 49509492 [A/G] NM_001001556,NM_002044 GALK2,GALK2 EXON Missense_N72S,Missense_N83S exm1160375 15 49509510 [T/C] NM_001001556,NM_002044 GALK2,GALK2 EXON Missense_P78L,Missense_P89L exm1160378 15 49528070 [A/G] NM_001001556,NM_002044 GALK2,GALK2 EXON Missense_N86D,Missense_N97D exm1833154 15 49574217 [T/C] NM_001001556,NM_002044 GALK2,GALK2 EXON Missense_R169C,Missense_R180C exm1160385 15 49574223 [A/G] NM_001001556,NM_002044 GALK2,GALK2 EXON Missense_I171V,Missense_I182V exm2276379 15 49575911 [T/C] NM_001001556,NM_002044 GALK2,GALK2 EXON Missense_A240V,Missense_A251V exm1160410 15 49611845 [A/G] NM_001001556,NM_002044 GALK2,GALK2 EXON Missense_E327K,Missense_E338K exm1160429 15 49620793 [T/C] NM_001001556,NM_002044,NM_152647 GALK2,GALK2,FAM227B EXON Silent,Silent,Missense_N500S exm1160435 15 49620868 [G/C] NM_001001556,NM_002044,NM_152647 GALK2,GALK2,FAM227B EXON Silent,Silent,Missense_S475C exm1160438 15 49627649 [A/C] NM_152647 FAM227B EXON Missense_R439I exm1160441 15 49627673 [T/C] NM_152647 FAM227B EXON Missense_R431H exm2267834 15 49699463 [A/G] NM_152647 FAM227B Silent exm-rs4338740 15 49735297 [T/C] NM_152647,NM_002009 FAM227B,FGF7 Silent,Silent exm2223474 15 49860444 [A/G] NM_152647 FAM227B EXON Nonsense_Q249X exm1160498 15 49860479 [A/G] NM_152647 FAM227B EXON Missense_M237T exm1160503 15 49867232 [T/C] NM_152647 FAM227B EXON Nonsense_W207X exm1160506 15 49869854 [T/G] NM_152647 FAM227B EXON Missense_D138A exm1833205 15 49882131 [T/G] NM_152647 FAM227B EXON Missense_D60A exm1160526 15 49907319 [A/C] NM_152647 FAM227B EXON Missense_G17V exm2252184 15 49907321 [A/G] NM_152647 FAM227B EXON Synonymous_P16P exm1160531 15 49907355 [T/C] NM_152647 FAM227B EXON Missense_R5Q exm1160532 15 49907356 [A/G] NM_152647 FAM227B EXON Nonsense_R5X exm1160543 15 49917618 [T/C] NM_020234,NM_001144955 DTWD1,DTWD1 EXON Missense_P85L,Missense_P85L exm1160550 15 49926742 [A/G] NM_020234,NM_001144955 DTWD1,DTWD1 EXON Missense_I140V,Missense_I140V exm-rs8033476 15 49952940 [A/G] exm2272240 15 50101072 [T/C] exm1160572 15 50152401 [A/C] NR_073596,NM_024837,NR_073598,NR_073597 ATP8B4,ATP8B4,ATP8B4,ATP8B4 EXON Silent,Missense_V1190G,Silent,Silent exm1160575 15 50152449 [T/C] NR_073596,NM_024837,NR_073598,NR_073597 ATP8B4,ATP8B4,ATP8B4,ATP8B4 EXON Silent,Missense_C1174Y,Silent,Silent exm1160576 15 50152458 [T/G] NR_073596,NM_024837,NR_073598,NR_073597 ATP8B4,ATP8B4,ATP8B4,ATP8B4 EXON Silent,Missense_E1171A,Silent,Silent exm1160578 15 50152475 [T/A] NR_073596,NM_024837,NR_073598,NR_073597 ATP8B4,ATP8B4,ATP8B4,ATP8B4 EXON Silent,Missense_N1165K,Silent,Silent exm1160585 15 50152624 [A/G] NR_073596,NM_024837,NR_073598,NR_073597 ATP8B4,ATP8B4,ATP8B4,ATP8B4 EXON Silent,Nonsense_R1116X,Silent,Silent exm1160586 15 50152668 [T/C] NR_073596,NM_024837,NR_073598,NR_073597 ATP8B4,ATP8B4,ATP8B4,ATP8B4 EXON Silent,Missense_R1101H,Silent,Silent exm1160589 15 50154563 [T/C] NR_073596,NM_024837,NR_073598,NR_073597 ATP8B4,ATP8B4,ATP8B4,ATP8B4 EXON Silent,Missense_R1059Q,Silent,Silent exm1160590 15 50158557 [A/T] NR_073596,NM_024837,NR_073598,NR_073597 ATP8B4,ATP8B4,ATP8B4,ATP8B4 EXON Silent,Missense_Q1051L,Silent,Silent exm1160597 15 50168531 [A/G] NR_073596,NM_024837,NR_073598,NR_073597 ATP8B4,ATP8B4,ATP8B4,ATP8B4 EXON Silent,Missense_Y991H,Silent,Silent exm1160598 15 50168539 [A/G] NR_073596,NM_024837,NR_073598,NR_073597 ATP8B4,ATP8B4,ATP8B4,ATP8B4 EXON Silent,Missense_I988T,Silent,Silent exm1160599 15 50168542 [T/C] NR_073596,NM_024837,NR_073598,NR_073597 ATP8B4,ATP8B4,ATP8B4,ATP8B4 EXON Silent,Missense_H987R,Silent,Silent exm2252185 15 50168565 [A/G] NR_073596,NM_024837,NR_073598,NR_073597 ATP8B4,ATP8B4,ATP8B4,ATP8B4 EXON Silent,Synonymous_N979N,Silent,Silent exm1160603 15 50168644 [T/C] NR_073596,NM_024837,NR_073598,NR_073597 ATP8B4,ATP8B4,ATP8B4,ATP8B4 EXON Silent,Missense_R953H,Silent,Silent exm1833239 15 50168665 [A/G] NR_073596,NM_024837,NR_073598,NR_073597 ATP8B4,ATP8B4,ATP8B4,ATP8B4 EXON Silent,Missense_L946P,Silent,Silent exm1160612 15 50189535 [A/G] NR_073596,NM_024837,NR_073598,NR_073597 ATP8B4,ATP8B4,ATP8B4,ATP8B4 EXON Silent,Missense_T884I,Silent,Silent exm1160613 15 50189542 [A/C] NR_073596,NM_024837,NR_073598,NR_073597 ATP8B4,ATP8B4,ATP8B4,ATP8B4 EXON Silent,Missense_A882S,Silent,Silent exm1160615 15 50189566 [A/G] NR_073596,NM_024837,NR_073598,NR_073597 ATP8B4,ATP8B4,ATP8B4,ATP8B4 EXON Silent,Missense_C874R,Silent,Silent exm1160621 15 50190297 [A/C] NR_073596,NM_024837,NR_073598,NR_073597 ATP8B4,ATP8B4,ATP8B4,ATP8B4 EXON Silent,Missense_G814V,Silent,Silent exm1160627 15 50190388 [T/A] NR_073596,NM_024837,NR_073598,NR_073597 ATP8B4,ATP8B4,ATP8B4,ATP8B4 EXON Silent,Missense_T784S,Silent,Silent exm1160641 15 50211086 [A/C] NR_073596,NM_024837,NR_073598,NR_073597 ATP8B4,ATP8B4,ATP8B4,ATP8B4 EXON Silent,Missense_S662I,Silent,Silent exm1160646 15 50211140 [T/C] NR_073596,NM_024837,NR_073598,NR_073597 ATP8B4,ATP8B4,ATP8B4,ATP8B4 EXON Silent,Missense_G644D,Silent,Silent exm1160650 15 50212513 [C/G] NR_073596,NM_024837,NR_073598,NR_073597 ATP8B4,ATP8B4,ATP8B4,ATP8B4 EXON Silent,Missense_A618G,Silent,Silent exm2223478 15 50212606 [A/T] NR_073596,NM_024837,NR_073598,NR_073597 ATP8B4,ATP8B4,ATP8B4,ATP8B4 EXON Silent,Missense_E587V,Silent,Silent exm1160663 15 50223345 [T/C] NR_073596,NM_024837,NR_073598,NR_073597 ATP8B4,ATP8B4,ATP8B4,ATP8B4 EXON Silent,Missense_N538S,Silent,Silent exm1160664 15 50223353 [A/C] NR_073596,NM_024837,NR_073598,NR_073597 ATP8B4,ATP8B4,ATP8B4,ATP8B4 EXON Silent,Missense_L535F,Silent,Silent exm1160668 15 50223504 [T/C] NR_073596,NM_024837,NR_073598,NR_073597 ATP8B4,ATP8B4,ATP8B4,ATP8B4 EXON Silent,Missense_G485E,Silent,Silent exm1160674 15 50226313 [T/G] NR_073596,NM_024837,NR_073598,NR_073597 ATP8B4,ATP8B4,ATP8B4,ATP8B4 EXON Silent,Missense_H452N,Silent,Silent exm1160677 15 50226359 [G/C] NR_073596,NM_024837,NR_073598,NR_073597 ATP8B4,ATP8B4,ATP8B4,ATP8B4 EXON Silent,Missense_F436L,Silent,Silent exm1160688 15 50264806 [T/C] NR_073596,NM_024837,NR_073598,NR_073597 ATP8B4,ATP8B4,ATP8B4,ATP8B4 EXON Silent,Missense_R406G,Silent,Silent exm1160689 15 50264839 [T/C] NR_073596,NM_024837,NR_073598,NR_073597 ATP8B4,ATP8B4,ATP8B4,ATP8B4 EXON Silent,Missense_G395S,Silent,Silent exm1160691 15 50264841 [A/G] NR_073596,NM_024837,NR_073598,NR_073597 ATP8B4,ATP8B4,ATP8B4,ATP8B4 EXON Silent,Missense_T394M,Silent,Silent exm1160692 15 50264848 [T/C] NR_073596,NM_024837,NR_073598,NR_073597 ATP8B4,ATP8B4,ATP8B4,ATP8B4 EXON Silent,Missense_D392N,Silent,Silent exm1160701 15 50264910 [T/G] NR_073596,NM_024837,NR_073598,NR_073597 ATP8B4,ATP8B4,ATP8B4,ATP8B4 EXON Silent,Missense_P371H,Silent,Silent exm1833279 15 50271864 [T/C] NR_073596,NM_024837,NR_073598,NR_073597 ATP8B4,ATP8B4,ATP8B4,ATP8B4 EXON Silent,Nonsense_W328X,Silent,Silent exm1160707 15 50271868 [A/G] NR_073596,NM_024837,NR_073598,NR_073597 ATP8B4,ATP8B4,ATP8B4,ATP8B4 EXON Silent,Missense_F327S,Silent,Silent exm1160709 15 50271905 [T/C] NR_073596,NM_024837,NR_073598,NR_073597 ATP8B4,ATP8B4,ATP8B4,ATP8B4 EXON Silent,Missense_G315R,Silent,Silent exm1160712 15 50271959 [T/C] NR_073596,NM_024837,NR_073598,NR_073597 ATP8B4,ATP8B4,ATP8B4,ATP8B4 EXON Silent,Missense_I297V,Silent,Silent exm1160717 15 50279662 [T/C] NR_073596,NM_024837,NR_073598,NR_073597 ATP8B4,ATP8B4,ATP8B4,ATP8B4 EXON Silent,Missense_N225S,Silent,Silent exm1160718 15 50279679 [G/C] NR_073596,NM_024837,NR_073598,NR_073597 ATP8B4,ATP8B4,ATP8B4,ATP8B4 EXON Silent,Missense_D219E,Silent,Silent exm1160722 15 50288937 [A/G] NR_073596,NM_024837,NR_073598,NR_073597 ATP8B4,ATP8B4,ATP8B4,ATP8B4 EXON Silent,Missense_R176C,Silent,Silent exm1160732 15 50331013 [T/C] NR_073596,NM_024837,NR_073598,NR_073597 ATP8B4,ATP8B4,ATP8B4,ATP8B4 EXON Silent,Missense_S105N,Silent,Silent exm1160742 15 50366324 [A/C] NR_073596,NM_024837,NR_073598,NR_073597 ATP8B4,ATP8B4,ATP8B4,ATP8B4 EXON Silent,Synonymous_A29A,Silent,Silent exm1160744 15 50366353 [C/G] NR_073596,NM_024837,NR_073598,NR_073597 ATP8B4,ATP8B4,ATP8B4,ATP8B4 EXON Silent,Missense_R20G,Silent,Silent exm1160751 15 50399138 [T/C] NR_073596,NM_024837,NR_073598,NR_073597 ATP8B4,ATP8B4,ATP8B4,ATP8B4 EXON Silent,Missense_R9H,Silent,Silent exm2264574 15 50468959 [A/C] exm1160760 15 50474766 [A/C] NM_001159629,NM_003645 SLC27A2,SLC27A2 EXON Missense_K48Q,Missense_K48Q exm1160765 15 50474833 [T/C] NM_001159629,NM_003645 SLC27A2,SLC27A2 EXON Missense_P70L,Missense_P70L exm1160788 15 50489741 [C/G] NM_001159629,NM_003645 SLC27A2,SLC27A2 EXON Missense_D175H,Missense_D175H exm1160795 15 50494779 [A/G] NM_001159629,NM_003645 SLC27A2,SLC27A2 EXON Silent,Missense_I262V exm1833323 15 50515319 [A/G] NM_001159629,NM_003645 SLC27A2,SLC27A2 EXON Missense_K324R,Missense_K377R exm1160813 15 50519294 [T/G] NM_001159629,NM_003645 SLC27A2,SLC27A2 EXON Missense_L406R,Missense_L459R exm1160814 15 50519322 [T/G] NM_001159629,NM_003645 SLC27A2,SLC27A2 EXON Missense_M415I,Missense_M468I exm1833335 15 50526116 [A/C] NM_001159629,NM_003645 SLC27A2,SLC27A2 EXON Missense_E483A,Missense_E536A exm1160824 15 50526123 [A/T] NM_001159629,NM_003645 SLC27A2,SLC27A2 EXON Missense_D485E,Missense_D538E exm1160829 15 50528150 [T/C] NM_001159629,NM_003645 SLC27A2,SLC27A2 EXON Missense_R521C,Missense_R574C exm1160833 15 50528259 [A/G] NM_001159629,NM_003645 SLC27A2,SLC27A2 EXON Missense_Y557C,Missense_Y610C exm1160840 15 50534514 [T/G] NM_002112 HDC EXON Missense_E644D exm2277078 15 50534704 [T/G] NM_002112 HDC EXON Missense_T581K exm1833339 15 50534704 [A/G] NM_002112 HDC EXON Missense_T581M exm1160848 15 50534789 [A/G] NM_002112 HDC EXON Missense_F553L exm1160850 15 50534852 [T/C] NM_002112 HDC EXON Missense_G532S exm1160851 15 50534863 [T/C] NM_002112 HDC EXON Missense_R528H exm1160855 15 50534966 [T/C] NM_002112 HDC EXON Missense_I494V exm1160862 15 50535151 [T/C] NM_002112 HDC EXON Missense_R432H exm1160882 15 50544965 [A/C] NM_002112 HDC EXON Missense_R265L exm1160896 15 50549731 [A/G] NM_002112 HDC EXON Missense_A111V exm1160897 15 50550615 [A/C] NM_002112 HDC EXON Missense_L102V exm1160903 15 50555544 [A/G] NM_002112 HDC EXON Missense_T31M exm1160927 15 50593003 [T/C] NM_016654,NM_005254,NM_016655,NM_181427,NM_002041 GABPB1,GABPB1,GABPB1,GABPB1,GABPB1 EXON Missense_N227S,Missense_N239S,Missense_N227S,Missense_N227S,Missense_N239S exm1160931 15 50593417 [A/C] NM_016654,NM_005254,NM_016655,NM_181427,NM_002041 GABPB1,GABPB1,GABPB1,GABPB1,GABPB1 Silent,Silent,Silent,Silent,Silent exm1160967 15 50757285 [A/G] NM_001128611,NM_001128610,NM_005154 USP8,USP8,USP8 EXON Missense_K195E,Missense_K195E,Missense_K195E exm1160973 15 50763945 [A/T] NM_001128611,NM_001128610,NM_005154 USP8,USP8,USP8 EXON Missense_L268I,Missense_L268I,Missense_L268I exm2223486 15 50769082 [A/G] NM_001128611,NM_001128610,NM_005154 USP8,USP8,USP8 EXON Missense_V296I,Missense_V296I,Missense_V296I exm1160978 15 50769161 [A/G] NM_001128611,NM_001128610,NM_005154 USP8,USP8,USP8 EXON Missense_R322Q,Missense_R322Q,Missense_R322Q exm1160985 15 50769520 [A/G] NM_001128611,NM_001128610,NM_005154 USP8,USP8,USP8 EXON Missense_A348T,Missense_A348T,Missense_A348T exm1160987 15 50769620 [T/C] NM_001128611,NM_001128610,NM_005154 USP8,USP8,USP8 EXON Missense_V381A,Missense_V381A,Missense_V381A exm1160989 15 50769628 [T/G] NM_001128611,NM_001128610,NM_005154 USP8,USP8,USP8 EXON Missense_V384F,Missense_V384F,Missense_V384F exm1160990 15 50769640 [A/G] NM_001128611,NM_001128610,NM_005154 USP8,USP8,USP8 EXON Missense_K388E,Missense_K388E,Missense_K388E exm1160998 15 50773787 [A/G] NM_001128611,NM_001128610,NM_005154 USP8,USP8,USP8 EXON Missense_D443G,Missense_D443G,Missense_D443G exm1161011 15 50773975 [A/C] NM_001128611,NM_001128610,NM_005154 USP8,USP8,USP8 EXON Missense_K506Q,Missense_K506Q,Missense_K506Q exm1833483 15 50774134 [T/C] NM_001128611,NM_001128610,NM_005154 USP8,USP8,USP8 EXON Missense_H559Y,Missense_H559Y,Missense_H559Y exm1161036 15 50782604 [T/C] NM_001128611,NM_001128610,NM_005154 USP8,USP8,USP8 EXON Missense_R706W,Missense_R706W,Missense_R706W exm1161037 15 50782703 [A/G] NM_001128611,NM_001128610,NM_005154 USP8,USP8,USP8 EXON Missense_T739A,Missense_T739A,Missense_T739A exm1161040 15 50784950 [T/C] NM_001128611,NM_001128610,NM_005154 USP8,USP8,USP8 EXON Missense_R763W,Missense_R763W,Missense_R763W exm1161045 15 50785016 [A/G] NM_001128611,NM_001128610,NM_005154 USP8,USP8,USP8 EXON Missense_T785A,Missense_T785A,Missense_T785A exm1161064 15 50791205 [A/G] NM_001128611,NM_001128610,NM_005154 USP8,USP8,USP8 EXON Missense_V1093I,Missense_V1093I,Missense_V1093I exm1161067 15 50793009 [G/C] NM_001128611,NM_001128610,NM_005154,NM_203494 USP8,USP8,USP8,USP50 EXON Silent,Silent,Silent,Missense_G321A exm1161072 15 50822028 [T/C] NM_203494 USP50 EXON Missense_R301Q exm1161081 15 50831026 [T/C] NM_203494 USP50 EXON Missense_Q228R exm1161088 15 50833350 [T/G] NM_203494 USP50 EXON Missense_N186H exm1161089 15 50833413 [A/C] NM_203494 USP50 EXON Missense_C165G exm1161090 15 50833442 [A/C] NM_203494 USP50 EXON Missense_R155I exm1161094 15 50835860 [T/C] NM_203494 USP50 EXON Missense_M127V exm1161097 15 50835906 [T/C] NM_203494 USP50 EXON Missense_I111M exm1161098 15 50835986 [A/C] NM_203494 USP50 EXON Missense_C85G exm1161099 15 50836788 [A/G] NM_203494 USP50 EXON Nonsense_Q82X exm1161103 15 50836832 [A/G] NM_203494 USP50 EXON Missense_P67L exm1161105 15 50836870 [T/G] NM_203494 USP50 EXON Nonsense_C54X exm1161110 15 50853900 [T/G] NM_017672 TRPM7 EXON Missense_T1858N exm1161129 15 50867089 [T/C] NM_017672 TRPM7 EXON Missense_S1660N exm1161135 15 50867290 [T/C] NM_017672 TRPM7 EXON Missense_N1593S exm1161148 15 50878630 [A/G] NM_017672 TRPM7 EXON Missense_T1482I exm1161149 15 50878654 [T/C] NM_017672 TRPM7 EXON Missense_R1474Q exm1161151 15 50881789 [A/G] NM_017672 TRPM7 EXON Synonymous_S1463S exm1161156 15 50884144 [T/C] NM_017672 TRPM7 EXON Missense_T1430A exm1161159 15 50884170 [T/C] NM_017672 TRPM7 EXON Missense_D1421G exm1161168 15 50884348 [A/G] NM_017672 TRPM7 EXON Missense_P1362S exm1161169 15 50884381 [A/G] NM_017672 TRPM7 EXON Missense_S1351P exm1161179 15 50884671 [A/G] NM_017672 TRPM7 EXON Missense_A1254V exm1161182 15 50884776 [T/C] NM_017672 TRPM7 EXON Missense_N1219S exm1161210 15 50897205 [T/A] NM_017672 TRPM7 EXON Missense_F949Y exm1161214 15 50899447 [T/A] NM_017672 TRPM7 EXON Missense_W887R exm2223493 15 50899491 [A/C] NM_017672 TRPM7 EXON Missense_F872C exm1161216 15 50901903 [A/G] NM_017672 TRPM7 EXON Missense_R819W exm1161222 15 50903339 [A/G] NM_017672 TRPM7 EXON Missense_S744F exm1161226 15 50904954 [T/C] NM_017672 TRPM7 EXON Missense_T615A exm1161244 15 50911966 [A/C] NM_017672 TRPM7 EXON Missense_F490L exm1161261 15 50929645 [C/G] NM_017672 TRPM7 EXON Missense_T269S exm1161266 15 50931641 [T/G] NM_017672 TRPM7 EXON Missense_N214H exm1833639 15 50931700 [C/G] NM_017672 TRPM7 EXON Missense_R194T exm1161272 15 50931745 [A/C] NM_017672 TRPM7 EXON Missense_G179V exm2272242 15 50932357 [T/C] NM_017672 TRPM7 Silent exm1161280 15 50940982 [T/C] NM_017672 TRPM7 EXON Missense_I75V exm1161301 15 51012201 [G/C] NM_032802 SPPL2A EXON Missense_T475S exm1161307 15 51014367 [T/A] NM_032802 SPPL2A EXON Missense_D427E exm1161312 15 51018568 [T/C] NM_032802 SPPL2A EXON Missense_E366K exm1161323 15 51028358 [A/C] NM_032802 SPPL2A EXON Missense_F291C exm1161324 15 51028388 [T/C] NM_032802 SPPL2A EXON Missense_R281H exm1161331 15 51028841 [A/G] NM_032802 SPPL2A EXON Missense_T277M exm1161339 15 51032011 [A/G] NM_032802 SPPL2A EXON Missense_A200V exm1161340 15 51032012 [A/C] NM_032802 SPPL2A EXON Missense_A200S exm1161345 15 51040384 [T/C] NM_032802 SPPL2A EXON Missense_N126D exm1161351 15 51040977 [T/C] NM_032802 SPPL2A EXON Missense_V90I exm1161354 15 51041909 [T/C] NM_032802 SPPL2A EXON Missense_G34E exm1161363 15 51201108 [A/G] NM_001252127,NM_007347 AP4E1,AP4E1 EXON Silent,Missense_A45T exm1161381 15 51217361 [T/C] NM_001252127,NM_007347 AP4E1,AP4E1 EXON Missense_C88R,Missense_C163R exm1161386 15 51221276 [A/C] NM_001252127,NM_007347 AP4E1,AP4E1 EXON Missense_H130N,Missense_H205N exm1833697 15 51223090 [A/G] NM_001252127,NM_007347 AP4E1,AP4E1 EXON Missense_N189S,Missense_N264S exm1161405 15 51233881 [A/G] NM_001252127,NM_007347 AP4E1,AP4E1 EXON Missense_Y287C,Missense_Y362C exm1161407 15 51233901 [A/C] NM_001252127,NM_007347 AP4E1,AP4E1 EXON Missense_T294P,Missense_T369P exm1161417 15 51240316 [A/C] NM_001252127,NM_007347 AP4E1,AP4E1 EXON Missense_I351L,Missense_I426L exm1161419 15 51240323 [A/G] NM_001252127,NM_007347 AP4E1,AP4E1 EXON Missense_N353S,Missense_N428S exm1833716 15 51250834 [A/C] NM_001252127,NM_007347 AP4E1,AP4E1 EXON Missense_A490E,Missense_A565E exm1161440 15 51250944 [T/C] NM_001252127,NM_007347 AP4E1,AP4E1 EXON Missense_L527F,Missense_L602F exm1161443 15 51260460 [A/G] NM_001252127,NM_007347 AP4E1,AP4E1 EXON Missense_V543I,Missense_V618I exm1833727 15 51289556 [A/G] NM_001252127,NM_007347 AP4E1,AP4E1 EXON Missense_R719G,Missense_R794G exm1161462 15 51289605 [T/C] NM_001252127,NM_007347 AP4E1,AP4E1 EXON Missense_T735I,Missense_T810I exm1161471 15 51289931 [A/G] NM_001252127,NM_007347 AP4E1,AP4E1 EXON Missense_M844V,Missense_M919V exm1833737 15 51293344 [A/C] NM_001252127,NM_007347 AP4E1,AP4E1 EXON Missense_Q998K,Missense_Q1073K exm1161487 15 51350090 [C/G] NM_207381 TNFAIP8L3 EXON Missense_E289D exm1161488 15 51350094 [T/C] NM_207381 TNFAIP8L3 EXON Missense_D288G exm1161492 15 51350151 [T/C] NM_207381 TNFAIP8L3 EXON Missense_D269G exm1161501 15 51350241 [T/C] NM_207381 TNFAIP8L3 EXON Missense_R239Q exm1161504 15 51350277 [A/T] NM_207381 TNFAIP8L3 EXON Missense_H227L exm1161505 15 51350287 [T/G] NM_207381 TNFAIP8L3 EXON Missense_N224H exm1161510 15 51350367 [T/C] NM_207381 TNFAIP8L3 EXON Missense_R197Q exm1161513 15 51350416 [A/G] NM_207381 TNFAIP8L3 EXON Missense_R181W exm1161518 15 51386749 [G/C] NM_207381 TNFAIP8L3 EXON Missense_T103S exm1161522 15 51397202 [G/C] NM_207381 TNFAIP8L3 EXON Missense_A58P exm1161526 15 51397262 [T/C] NM_207381 TNFAIP8L3 EXON Missense_A38T exm1161527 15 51397299 [C/G] NM_207381 TNFAIP8L3 EXON Missense_W25C exm1161528 15 51397361 [A/G] NM_207381 TNFAIP8L3 EXON Missense_R5W exm1161537 15 51503159 [A/G] NM_031226,NM_000103 CYP19A1,CYP19A1 EXON Missense_T453I,Missense_T453I exm1161553 15 51507335 [A/G] NM_031226,NM_000103 CYP19A1,CYP19A1 EXON Missense_M318T,Missense_M318T exm1161560 15 51507935 [A/G] NM_031226,NM_000103 CYP19A1,CYP19A1 EXON Missense_C275R,Missense_C275R exm1161562 15 51507968 [A/G] NM_031226,NM_000103 CYP19A1,CYP19A1 EXON Missense_R264C,Missense_R264C exm1161578 15 51514572 [A/G] NM_031226,NM_000103 CYP19A1,CYP19A1 EXON Missense_T201M,Missense_T201M exm1833786 15 51514699 [A/G] NM_031226,NM_000103 CYP19A1,CYP19A1 EXON Missense_R159C,Missense_R159C exm-rs2899472 15 51516055 [A/C] NM_031226,NM_000103 CYP19A1,CYP19A1 Silent,Silent exm-rs16964211 15 51530495 [A/G] NM_031226,NM_000103 CYP19A1,CYP19A1 Silent,Silent exm2223505 15 51534995 [A/G] NM_031226,NM_000103 CYP19A1,CYP19A1 EXON Missense_W39R,Missense_W39R exm1161608 15 51535061 [T/C] NM_031226,NM_000103 CYP19A1,CYP19A1 EXON Missense_V17M,Missense_V17M exm-rs2305707 15 51569410 [A/G] NM_031226,NM_000103 CYP19A1,CYP19A1 Silent,Silent exm1161638 15 51675988 [T/C] NM_181789 GLDN EXON Missense_P147L exm1161642 15 51676014 [A/G] NM_181789 GLDN EXON Missense_N156D exm1161644 15 51676020 [T/G] NM_181789 GLDN EXON Missense_L158V exm1161659 15 51689763 [A/G] NM_181789 GLDN EXON Missense_R262Q exm1161660 15 51689772 [A/G] NM_181789 GLDN EXON Missense_S265N exm1161661 15 51689783 [A/G] NM_181789 GLDN EXON Missense_G269S exm1161663 15 51692407 [G/C] NM_181789 GLDN EXON Missense_P279R exm1161665 15 51692419 [T/C] NM_181789 GLDN EXON Missense_T283I exm1161669 15 51693813 [A/G] NM_181789 GLDN EXON Missense_D351N exm1161672 15 51693940 [A/G] NM_181789 GLDN EXON Missense_R393K exm2272244 15 51696003 [T/C] NM_181789 GLDN Silent exm1161676 15 51696509 [A/C] NM_181789 GLDN EXON Missense_K405T exm1161689 15 51696692 [T/C] NM_181789 GLDN EXON Missense_T466M exm1161692 15 51696764 [T/C] NM_181789 GLDN EXON Missense_M490T exm1161696 15 51696856 [A/G] NM_181789 GLDN EXON Missense_A521T exm1161705 15 51741195 [A/G] NM_001174117,NM_001174116,NM_015263 DMXL2,DMXL2,DMXL2 EXON Missense_L2397F,Missense_L3034F,Missense_L3033F exm2252192 15 51741262 [A/G] NM_001174117,NM_001174116,NM_015263 DMXL2,DMXL2,DMXL2 EXON Synonymous_S2374S,Synonymous_S3011S,Synonymous_S3010S exm1161747 15 51750931 [A/G] NM_001174117,NM_001174116,NM_015263 DMXL2,DMXL2,DMXL2 EXON Missense_M2026T,Missense_M2663T,Missense_M2662T exm1161748 15 51750939 [A/T] NM_001174117,NM_001174116,NM_015263 DMXL2,DMXL2,DMXL2 EXON Missense_E2023D,Missense_E2660D,Missense_E2659D exm1161750 15 51755689 [A/G] NM_001174117,NM_001174116,NM_015263 DMXL2,DMXL2,DMXL2 EXON Missense_R1968W,Missense_R2605W,Missense_R2604W exm1161756 15 51757826 [T/C] NM_001174117,NM_001174116,NM_015263 DMXL2,DMXL2,DMXL2 EXON Missense_M1878V,Missense_M2515V,Missense_M2514V exm1161759 15 51758447 [T/C] NM_001174117,NM_001174116,NM_015263 DMXL2,DMXL2,DMXL2 EXON Missense_D1848G,Missense_D2485G,Missense_D2484G exm1161772 15 51763587 [A/G] NM_001174117,NM_001174116,NM_015263 DMXL2,DMXL2,DMXL2 EXON Missense_L1772F,Missense_L2409F,Missense_L2408F exm1161779 15 51766606 [C/G] NM_001174117,NM_001174116,NM_015263 DMXL2,DMXL2,DMXL2 EXON Missense_A1746G,Missense_A2383G,Missense_A2382G exm2252193 15 51766707 [A/C] NM_001174117,NM_001174116,NM_015263 DMXL2,DMXL2,DMXL2 EXON Synonymous_V1712V,Synonymous_V2349V,Synonymous_V2348V exm1161801 15 51768854 [T/C] NM_001174117,NM_001174116,NM_015263 DMXL2,DMXL2,DMXL2 EXON Missense_R1662H,Missense_R2299H,Missense_R2298H exm1161807 15 51770466 [A/C] NM_001174117,NM_001174116,NM_015263 DMXL2,DMXL2,DMXL2 Silent,Silent,Silent exm1161815 15 51772773 [A/G] NM_001174117,NM_001174116,NM_015263 DMXL2,DMXL2,DMXL2 EXON Missense_M1541T,Missense_M2177T,Missense_M2177T exm1161817 15 51772806 [T/C] NM_001174117,NM_001174116,NM_015263 DMXL2,DMXL2,DMXL2 EXON Missense_G1530E,Missense_G2166E,Missense_G2166E exm1161825 15 51772927 [A/G] NM_001174117,NM_001174116,NM_015263 DMXL2,DMXL2,DMXL2 EXON Missense_R1490C,Missense_R2126C,Missense_R2126C exm1161827 15 51772936 [A/C] NM_001174117,NM_001174116,NM_015263 DMXL2,DMXL2,DMXL2 EXON Missense_S1487A,Missense_S2123A,Missense_S2123A exm1161836 15 51773243 [A/T] NM_001174117,NM_001174116,NM_015263 DMXL2,DMXL2,DMXL2 EXON Missense_L1384F,Missense_L2020F,Missense_L2020F exm1161837 15 51773257 [T/C] NM_001174117,NM_001174116,NM_015263 DMXL2,DMXL2,DMXL2 EXON Missense_D1380N,Missense_D2016N,Missense_D2016N exm1161839 15 51773268 [T/G] NM_001174117,NM_001174116,NM_015263 DMXL2,DMXL2,DMXL2 EXON Missense_Q1376P,Missense_Q2012P,Missense_Q2012P exm1161841 15 51773327 [T/A] NM_001174117,NM_001174116,NM_015263 DMXL2,DMXL2,DMXL2 EXON Missense_D1356E,Missense_D1992E,Missense_D1992E exm1161843 15 51773356 [T/C] NM_001174117,NM_001174116,NM_015263 DMXL2,DMXL2,DMXL2 EXON Missense_D1347N,Missense_D1983N,Missense_D1983N exm1833907 15 51778412 [A/T] NM_001174117,NM_001174116,NM_015263 DMXL2,DMXL2,DMXL2 EXON Missense_Q1144H,Missense_Q1780H,Missense_Q1780H exm1161880 15 51787226 [T/C] NM_001174117,NM_001174116,NM_015263 DMXL2,DMXL2,DMXL2 EXON Missense_H957R,Missense_H1593R,Missense_H1593R exm1161884 15 51790979 [T/C] NM_001174117,NM_001174116,NM_015263 DMXL2,DMXL2,DMXL2 EXON Silent,Missense_D1481G,Missense_D1481G exm1161887 15 51791087 [A/G] NM_001174117,NM_001174116,NM_015263 DMXL2,DMXL2,DMXL2 EXON Silent,Missense_I1445T,Missense_I1445T exm1161895 15 51791187 [T/C] NM_001174117,NM_001174116,NM_015263 DMXL2,DMXL2,DMXL2 EXON Silent,Missense_V1412I,Missense_V1412I exm1161897 15 51791234 [A/G] NM_001174117,NM_001174116,NM_015263 DMXL2,DMXL2,DMXL2 EXON Silent,Missense_S1396F,Missense_S1396F exm1161901 15 51791405 [A/C] NM_001174117,NM_001174116,NM_015263 DMXL2,DMXL2,DMXL2 EXON Silent,Missense_V1339G,Missense_V1339G exm1161902 15 51791472 [T/C] NM_001174117,NM_001174116,NM_015263 DMXL2,DMXL2,DMXL2 EXON Silent,Missense_I1317V,Missense_I1317V exm1161903 15 51791486 [A/G] NM_001174117,NM_001174116,NM_015263 DMXL2,DMXL2,DMXL2 EXON Silent,Missense_V1312A,Missense_V1312A exm1161907 15 51791534 [T/C] NM_001174117,NM_001174116,NM_015263 DMXL2,DMXL2,DMXL2 EXON Silent,Missense_Q1296R,Missense_Q1296R exm1161908 15 51791541 [T/C] NM_001174117,NM_001174116,NM_015263 DMXL2,DMXL2,DMXL2 EXON Silent,Missense_A1294T,Missense_A1294T exm1161910 15 51791559 [A/G] NM_001174117,NM_001174116,NM_015263 DMXL2,DMXL2,DMXL2 EXON Silent,Missense_S1288P,Missense_S1288P exm1161911 15 51791561 [A/C] NM_001174117,NM_001174116,NM_015263 DMXL2,DMXL2,DMXL2 EXON Silent,Missense_S1287I,Missense_S1287I exm1161912 15 51791562 [T/C] NM_001174117,NM_001174116,NM_015263 DMXL2,DMXL2,DMXL2 EXON Silent,Missense_S1287G,Missense_S1287G exm1161929 15 51792000 [T/C] NM_001174117,NM_001174116,NM_015263 DMXL2,DMXL2,DMXL2 EXON Silent,Missense_V1141I,Missense_V1141I exm1161943 15 51795129 [T/G] NM_001174117,NM_001174116,NM_015263 DMXL2,DMXL2,DMXL2 EXON Silent,Missense_P956T,Missense_P956T exm1161949 15 51795189 [T/C] NM_001174117,NM_001174116,NM_015263 DMXL2,DMXL2,DMXL2 EXON Silent,Missense_V936I,Missense_V936I exm1161953 15 51799388 [T/C] NM_001174117,NM_001174116,NM_015263 DMXL2,DMXL2,DMXL2 EXON Missense_N903D,Missense_N903D,Missense_N903D exm1161959 15 51806707 [A/G] NM_001174117,NM_001174116,NM_015263 DMXL2,DMXL2,DMXL2 EXON Missense_I859T,Missense_I859T,Missense_I859T exm1161963 15 51809289 [T/C] NM_001174117,NM_001174116,NM_015263 DMXL2,DMXL2,DMXL2 EXON Missense_A838T,Missense_A838T,Missense_A838T exm1161966 15 51809357 [A/G] NM_001174117,NM_001174116,NM_015263 DMXL2,DMXL2,DMXL2 EXON Missense_I815T,Missense_I815T,Missense_I815T exm1833940 15 51828540 [A/G] NM_001174117,NM_001174116,NM_015263 DMXL2,DMXL2,DMXL2 EXON Missense_R713C,Missense_R713C,Missense_R713C exm1161979 15 51828581 [A/G] NM_001174117,NM_001174116,NM_015263 DMXL2,DMXL2,DMXL2 EXON Missense_I699T,Missense_I699T,Missense_I699T exm1161997 15 51828890 [C/G] NM_001174117,NM_001174116,NM_015263 DMXL2,DMXL2,DMXL2 EXON Missense_S596C,Missense_S596C,Missense_S596C exm1162002 15 51828975 [T/C] NM_001174117,NM_001174116,NM_015263 DMXL2,DMXL2,DMXL2 EXON Missense_I568V,Missense_I568V,Missense_I568V exm1162011 15 51829812 [A/G] NM_001174117,NM_001174116,NM_015263 DMXL2,DMXL2,DMXL2 EXON Missense_T497M,Missense_T497M,Missense_T497M exm1162012 15 51829825 [A/G] NM_001174117,NM_001174116,NM_015263 DMXL2,DMXL2,DMXL2 EXON Missense_R493W,Missense_R493W,Missense_R493W exm1162013 15 51829839 [A/G] NM_001174117,NM_001174116,NM_015263 DMXL2,DMXL2,DMXL2 EXON Missense_T488M,Missense_T488M,Missense_T488M exm1162018 15 51830416 [T/C] NM_001174117,NM_001174116,NM_015263 DMXL2,DMXL2,DMXL2 EXON Missense_D447N,Missense_D447N,Missense_D447N exm1162035 15 51837831 [T/G] NM_001174117,NM_001174116,NM_015263 DMXL2,DMXL2,DMXL2 EXON Missense_S293R,Missense_S293R,Missense_S293R exm1162048 15 51856392 [C/G] NM_001174117,NM_001174116,NM_015263 DMXL2,DMXL2,DMXL2 EXON Missense_E144Q,Missense_E144Q,Missense_E144Q exm1162070 15 51914720 [G/C] NM_001174117,NM_001174116,NM_015263 DMXL2,DMXL2,DMXL2 EXON Missense_T8S,Missense_T8S,Missense_T8S exm-rs17525472 15 51969668 [T/C] exm1162084 15 51975566 [C/G] NM_013243,NM_001165257 SCG3,SCG3 EXON Missense_T111S,Silent exm1162085 15 51975570 [T/G] NM_013243,NM_001165257 SCG3,SCG3 EXON Missense_K112N,Silent exm1162087 15 51975608 [A/G] NM_013243,NM_001165257 SCG3,SCG3 EXON Missense_S125N,Silent exm1162099 15 51980597 [T/C] NM_013243,NM_001165257 SCG3,SCG3 EXON Missense_L180F,Silent exm1162104 15 51984362 [A/G] NM_013243,NM_001165257 SCG3,SCG3 EXON Missense_M233V,Missense_M1V exm1162109 15 51984403 [T/G] NM_013243,NM_001165257 SCG3,SCG3 EXON Missense_D246E,Missense_D14E exm1162125 15 51993318 [A/G] NM_013243,NM_001165257 SCG3,SCG3 EXON Missense_S362G,Missense_S130G exm1162128 15 51993388 [A/G] NM_013243,NM_001165257 SCG3,SCG3 EXON Missense_D385G,Missense_D153G exm1162137 15 52017002 [A/G] NM_001143917,NM_153374 LYSMD2,LYSMD2 EXON Missense_L106P,Missense_L197P exm1162138 15 52017035 [T/C] NM_001143917,NM_153374 LYSMD2,LYSMD2 EXON Missense_Q95R,Missense_Q186R exm1162143 15 52017066 [T/C] NM_001143917,NM_153374 LYSMD2,LYSMD2 EXON Missense_A85T,Missense_A176T exm1162145 15 52017101 [A/G] NM_001143917,NM_153374 LYSMD2,LYSMD2 EXON Missense_S73F,Missense_S164F exm1162148 15 52017135 [T/C] NM_001143917,NM_153374 LYSMD2,LYSMD2 EXON Missense_G62R,Missense_G153R exm1162154 15 52017273 [T/C] NM_001143917,NM_153374 LYSMD2,LYSMD2 EXON Missense_I16V,Missense_I107V exm1162173 15 52060519 [G/C] NM_001142885,NM_014548 TMOD2,TMOD2 EXON Missense_P63A,Missense_P63A exm1834040 15 52065939 [T/C] NM_001142885,NM_014548 TMOD2,TMOD2 EXON Missense_I105T,Missense_I105T exm1162181 15 52069143 [T/C] NM_001142885,NM_014548 TMOD2,TMOD2 EXON Missense_H141Y,Missense_H141Y exm1834051 15 52090434 [A/G] NM_001142885,NM_014548 TMOD2,TMOD2 EXON Missense_S222N,Missense_S258N exm1162200 15 52098617 [T/C] NM_001142885,NM_014548 TMOD2,TMOD2 EXON Missense_M271T,Missense_M307T exm1162201 15 52098656 [A/G] NM_001142885,NM_014548 TMOD2,TMOD2 EXON Missense_Q284R,Missense_Q320R exm1162215 15 52161468 [A/G] NM_014547 TMOD3 EXON Missense_T61A exm1162216 15 52161487 [A/G] NM_014547 TMOD3 EXON Missense_E67G exm1162223 15 52181256 [T/C] NM_014547 TMOD3 EXON Missense_I137T exm1162229 15 52181305 [A/G] NM_014547 TMOD3 EXON Missense_M153I exm1162231 15 52186039 [T/C] NM_014547 TMOD3 EXON Missense_P175L exm1162232 15 52186051 [A/G] NM_014547 TMOD3 EXON Missense_E179G exm1162233 15 52186062 [C/G] NM_014547 TMOD3 EXON Missense_P183A exm2252196 15 52186103 [T/C] NM_014547 TMOD3 EXON Synonymous_N196N exm1162248 15 52188668 [T/C] NM_014547 TMOD3 EXON Missense_T227I exm1162265 15 52230365 [T/A] NM_138792 LEO1 EXON Missense_E663D exm1162303 15 52254612 [A/G] NM_138792 LEO1 EXON Missense_A298V exm1162308 15 52254682 [T/C] NM_138792 LEO1 EXON Missense_R275G exm1162309 15 52257996 [T/C] NM_138792 LEO1 EXON Missense_D255G exm1834104 15 52258005 [T/C] NM_138792 LEO1 EXON Missense_Q252R exm1162315 15 52258114 [A/G] NM_138792 LEO1 EXON Missense_R216W exm1162330 15 52258559 [G/C] NM_138792 LEO1 EXON Missense_E67D exm1162331 15 52258570 [A/C] NM_138792 LEO1 EXON Missense_D64Y exm1162377 15 52356136 [A/G] NM_002748 MAPK6 EXON Missense_V369I exm1162413 15 52356995 [A/G] NM_002748 MAPK6 EXON Missense_R655K exm1834149 15 52404650 [A/G] NM_020396 BCL2L10 EXON Missense_P92S exm1162442 15 52404706 [T/C] NM_020396 BCL2L10 EXON Missense_N73S exm1162472 15 52425618 [T/C] NM_016194,NM_006578 GNB5,GNB5 EXON Missense_V274M,Missense_V232M exm1162478 15 52427863 [T/C] NM_016194,NM_006578 GNB5,GNB5 EXON Missense_V240I,Missense_V198I exm1162506 15 52472039 [A/G] NM_016194,NM_006578 GNB5,GNB5 EXON Missense_A55V,Missense_A13V exm1162508 15 52476813 [A/G] NM_016194 GNB5 EXON Nonsense_R21X exm1162509 15 52476852 [T/C] NM_016194 GNB5 EXON Missense_V8I exm2223513 15 52483565 [A/G] NM_016194 GNB5 EXON Silent exm1162513 15 52486169 [C/G] NM_018728 MYO5C EXON Missense_P1720R exm1162515 15 52486227 [A/C] NM_018728 MYO5C EXON Missense_S1701A exm1162524 15 52488525 [A/G] NM_018728 MYO5C EXON Missense_T1659I exm1834189 15 52497148 [G/C] NM_018728 MYO5C EXON Missense_Q1578H exm1162535 15 52497163 [A/C] NM_018728 MYO5C EXON Missense_R1573S exm1162552 15 52500824 [A/G] NM_018728 MYO5C EXON Missense_F1438S exm1162559 15 52504009 [T/C] NM_018728 MYO5C EXON Missense_R1405H exm1162567 15 52505468 [A/G] NM_018728 MYO5C EXON Missense_S1353L exm1162570 15 52506853 [A/G] NM_018728 MYO5C EXON Missense_V1330A exm1162571 15 52506854 [A/C] NM_018728 MYO5C EXON Missense_V1330L exm1162575 15 52510715 [T/C] NM_018728 MYO5C Silent exm1162576 15 52510748 [T/G] NM_018728 MYO5C EXON Missense_Q1308K exm1162580 15 52510825 [A/C] NM_018728 MYO5C EXON Missense_I1282S exm1162582 15 52510884 [G/C] NM_018728 MYO5C EXON Missense_K1262N exm1834208 15 52513388 [T/C] NM_018728 MYO5C EXON Missense_R1231H exm1162585 15 52515763 [T/G] NM_018728 MYO5C EXON Missense_T1202N exm1162586 15 52515776 [A/G] NM_018728 MYO5C EXON Missense_R1198C exm1162591 15 52517099 [A/G] NM_018728 MYO5C EXON Missense_R1149C exm1162597 15 52517648 [A/G] NM_018728 MYO5C EXON Missense_R1097W exm1162598 15 52517714 [T/C] NM_018728 MYO5C EXON Missense_E1075K exm1162605 15 52521383 [T/C] NM_018728 MYO5C EXON Missense_V1052I exm1162614 15 52527951 [T/C] NM_018728 MYO5C EXON Missense_K960E exm1162617 15 52529717 [T/C] NM_018728 MYO5C EXON Missense_E944K exm1162634 15 52534276 [T/C] NM_018728 MYO5C EXON Missense_R842Q exm1834251 15 52534310 [A/G] NM_018728 MYO5C EXON Missense_R831C exm1162640 15 52536596 [T/C] NM_018728 MYO5C EXON Missense_A783T exm1162656 15 52539165 [A/G] NM_018728 MYO5C EXON Missense_T643M exm1162666 15 52539699 [T/C] NM_018728 MYO5C EXON Missense_I613V exm1162675 15 52543615 [T/G] NM_018728 MYO5C EXON Missense_S545Y exm1162694 15 52553156 [A/G] NM_018728 MYO5C EXON Missense_Y406H exm1162695 15 52553173 [A/G] NM_018728 MYO5C EXON Missense_A400V exm1834286 15 52553238 [A/G] NM_018728 MYO5C EXON Synonymous_I378I exm1162700 15 52553259 [G/C] NM_018728 MYO5C EXON Missense_Q371H exm1162705 15 52553319 [A/C] NM_018728 MYO5C EXON Missense_D351E exm1162706 15 52556403 [T/C] NM_018728 MYO5C EXON Missense_E344G exm1162715 15 52556472 [A/G] NM_018728 MYO5C EXON Missense_M321T exm1162723 15 52563983 [A/G] NM_018728 MYO5C EXON Missense_S270L exm1162726 15 52564808 [T/C] NM_018728 MYO5C EXON Missense_Y240C exm1162735 15 52564893 [T/C] NM_018728 MYO5C EXON Missense_N212D exm1162741 15 52567764 [T/C] NM_018728 MYO5C EXON Missense_T201A exm1162744 15 52567851 [A/G] NM_018728 MYO5C EXON Missense_R172C exm1162746 15 52567856 [A/G] NM_018728 MYO5C EXON Missense_S170L exm1162747 15 52567901 [A/T] NM_018728 MYO5C EXON Missense_Q155L exm1162756 15 52571110 [T/C] NM_018728 MYO5C EXON Missense_I137V exm1162771 15 52574980 [A/G] NM_018728 MYO5C EXON Missense_T46M exm1834303 15 52575025 [T/C] NM_018728 MYO5C EXON Missense_Y31C exm1162774 15 52575038 [T/C] NM_018728 MYO5C EXON Missense_I27V exm1162775 15 52575064 [A/G] NM_018728 MYO5C EXON Missense_P18L exm1162785 15 52606328 [T/C] NM_000259,NM_001142495 MYO5A,MYO5A EXON Missense_T1803A,Missense_T1776A exm1834312 15 52606339 [A/G] NM_000259,NM_001142495 MYO5A,MYO5A EXON Missense_S1799L,Missense_S1772L exm1162795 15 52611351 [T/C] NM_000259,NM_001142495 MYO5A,MYO5A EXON Missense_V1689I,Missense_V1662I exm1162798 15 52611398 [A/G] NM_000259,NM_001142495 MYO5A,MYO5A EXON Missense_S1673L,Missense_S1646L exm1162805 15 52613630 [A/C] NM_000259,NM_001142495 MYO5A,MYO5A EXON Missense_V1601G,Missense_V1574G exm1162807 15 52615617 [T/C] NM_000259,NM_001142495 MYO5A,MYO5A EXON Missense_V1554I,Missense_V1527I exm1162817 15 52622548 [A/G] NM_000259,NM_001142495 MYO5A,MYO5A Silent,Silent exm1162820 15 52622673 [A/G] NM_000259,NM_001142495 MYO5A,MYO5A EXON Missense_P1453S,Missense_P1426S exm1162823 15 52628671 [T/C] NM_000259,NM_001142495 MYO5A,MYO5A EXON Missense_G1441D,Missense_G1414D exm1162826 15 52628719 [A/G] NM_000259,NM_001142495 MYO5A,MYO5A EXON Missense_T1425M,Missense_T1398M exm1162831 15 52635394 [A/T] NM_000259,NM_001142495 MYO5A,MYO5A EXON Missense_R1320S,Silent exm1162848 15 52652166 [T/A] NM_000259,NM_001142495 MYO5A,MYO5A EXON Missense_E1141V,Missense_E1141V exm1162850 15 52652211 [A/C] NM_000259,NM_001142495 MYO5A,MYO5A EXON Missense_F1126C,Missense_F1126C exm1162858 15 52659252 [T/C] NM_000259,NM_001142495 MYO5A,MYO5A EXON Missense_V1046M,Missense_V1046M exm1162879 15 52664553 [T/C] NM_000259,NM_001142495 MYO5A,MYO5A EXON Missense_R862H,Missense_R862H exm1162897 15 52668659 [A/C] NM_000259,NM_001142495 MYO5A,MYO5A EXON Missense_A769S,Missense_A769S exm1162912 15 52676392 [A/G] NM_000259,NM_001142495 MYO5A,MYO5A EXON Missense_M627T,Missense_M627T exm2264575 15 52680774 [A/C] NM_000259,NM_001142495 MYO5A,MYO5A Silent,Silent exm1162935 15 52689437 [A/G] NM_000259,NM_001142495 MYO5A,MYO5A EXON Missense_V427A,Missense_V427A exm1162937 15 52689516 [T/C] NM_000259,NM_001142495 MYO5A,MYO5A EXON Missense_D401N,Missense_D401N exm1162943 15 52689631 [T/G] NM_000259,NM_001142495 MYO5A,MYO5A EXON Missense_E362D,Missense_E362D exm1834468 15 52874488 [T/A] NM_019600 FAM214A EXON Missense_S1032T exm1162999 15 52885874 [G/C] NM_019600 FAM214A EXON Missense_E903D exm1163008 15 52897344 [A/G] NM_019600 FAM214A EXON Missense_L816F exm1163013 15 52900804 [A/C] NM_019600 FAM214A EXON Missense_C769W exm1834484 15 52900842 [A/G] NM_019600 FAM214A EXON Missense_S757P exm1163026 15 52901109 [T/C] NM_019600 FAM214A EXON Missense_K668E exm1163027 15 52901166 [T/C] NM_019600 FAM214A EXON Missense_K649E exm1163031 15 52901238 [T/A] NM_019600 FAM214A EXON Missense_T625S exm1163035 15 52901283 [T/C] NM_019600 FAM214A EXON Missense_T610A exm1163038 15 52901321 [A/G] NM_019600 FAM214A EXON Missense_T597M exm1163042 15 52901433 [T/C] NM_019600 FAM214A EXON Missense_V560I exm1163043 15 52901487 [T/C] NM_019600 FAM214A EXON Missense_I542V exm1163045 15 52901522 [A/G] NM_019600 FAM214A EXON Missense_L530S exm1163050 15 52901586 [T/C] NM_019600 FAM214A EXON Missense_N509D exm1163053 15 52901652 [A/C] NM_019600 FAM214A EXON Missense_A487S exm1163055 15 52901658 [T/C] NM_019600 FAM214A EXON Missense_V485I exm1163058 15 52901739 [T/C] NM_019600 FAM214A EXON Missense_I458V exm1163061 15 52901865 [T/C] NM_019600 FAM214A EXON Missense_E416K exm1163067 15 52901988 [G/C] NM_019600 FAM214A EXON Missense_A375P exm1163072 15 52902314 [T/C] NM_019600 FAM214A EXON Missense_R266H exm1163077 15 52902450 [T/C] NM_019600 FAM214A EXON Missense_N221D exm1163078 15 52902491 [A/G] NM_019600 FAM214A EXON Missense_V207A exm1163080 15 52902506 [T/C] NM_019600 FAM214A EXON Missense_N202S exm1163082 15 52902531 [T/C] NM_019600 FAM214A EXON Missense_I194V exm1163086 15 52903772 [T/C] NM_019600 FAM214A EXON Missense_Q135R exm1163094 15 52903958 [T/C] NM_019600 FAM214A EXON Missense_R73Q exm2267771 15 53065676 [A/G] NM_004498,NR_073510 ONECUT1,ONECUT1 Silent,Silent exm1163124 15 53081277 [G/C] NM_004498 ONECUT1 EXON Missense_R269G exm1163139 15 53081535 [A/G] NM_004498 ONECUT1 EXON Missense_S183P exm1163152 15 53081795 [T/C] NM_004498 ONECUT1 EXON Missense_G96D exm2272245 15 53374026 [T/C] exm2272303 15 53493565 [T/C] exm-rs7168365 15 53805825 [A/C] exm1163172 15 53815417 [C/G] NM_182758 WDR72 EXON Missense_P1084R exm1163173 15 53815457 [C/G] NM_182758 WDR72 EXON Missense_D1071H exm1163184 15 53901720 [T/C] NM_182758 WDR72 EXON Missense_Q981R exm1163191 15 53907662 [A/G] NM_182758 WDR72 EXON Missense_L914S exm1163197 15 53907906 [A/C] NM_182758 WDR72 EXON Missense_S833A exm1163199 15 53907948 [A/G] NM_182758 WDR72 EXON Missense_L819F exm1163203 15 53908012 [A/C] NM_182758 WDR72 EXON Missense_L797F exm1163206 15 53908046 [A/C] NM_182758 WDR72 EXON Missense_V786G exm1163207 15 53908062 [T/C] NM_182758 WDR72 EXON Missense_K781E exm1163208 15 53908064 [A/G] NM_182758 WDR72 EXON Missense_P780L exm1834577 15 53908104 [T/C] NM_182758 WDR72 EXON Missense_K767E exm1163212 15 53908274 [A/C] NM_182758 WDR72 EXON Missense_G710V exm-rs10518733 15 53940307 [A/C] NM_182758 WDR72 Silent exm-rs491567 15 53946593 [A/C] NM_182758 WDR72 Silent exm1163222 15 53957897 [T/G] NM_182758 WDR72 EXON Missense_L612I exm1163241 15 53994351 [T/C] NM_182758 WDR72 EXON Missense_M517V exm1163246 15 53994463 [T/G] NM_182758 WDR72 EXON Missense_Q479H exm2252202 15 53994493 [A/G] NM_182758 WDR72 EXON Synonymous_Y469Y exm1163259 15 53997338 [T/G] NM_182758 WDR72 EXON Missense_K399Q exm1163268 15 53998178 [T/C] NM_182758 WDR72 EXON Missense_T350A exm1163271 15 53998240 [A/G] NM_182758 WDR72 EXON Missense_M329T exm1163278 15 54003091 [A/G] NM_182758 WDR72 EXON Missense_P306L exm1163295 15 54007406 [G/C] NM_182758 WDR72 EXON Missense_H166Q exm1834604 15 54007541 [T/C] NM_182758 WDR72 EXON Missense_M121I exm1163299 15 54007556 [G/C] NM_182758 WDR72 EXON Missense_H116Q exm1163303 15 54008845 [T/C] NM_182758 WDR72 EXON Missense_M100V exm1163311 15 54015098 [A/G] NM_182758 WDR72 EXON Missense_A54V exm2264558 15 54018760 [A/C] NM_182758 WDR72 Silent exm1163319 15 54025291 [T/C] NM_182758 WDR72 EXON Missense_S19N exm-rs2616881 15 54212245 [A/G] exm2252203 15 54248979 [T/C] exm1163327 15 54305191 [A/G] NM_001080534 UNC13C EXON Missense_K31E exm1163341 15 54305560 [A/G] NM_001080534 UNC13C EXON Missense_R154G exm1163343 15 54305605 [A/G] NM_001080534 UNC13C EXON Missense_G169R exm1163344 15 54305612 [A/G] NM_001080534 UNC13C EXON Missense_R171H exm1163358 15 54306012 [G/C] NM_001080534 UNC13C EXON Missense_D304E exm1163359 15 54306016 [T/C] NM_001080534 UNC13C EXON Missense_H306Y exm1163360 15 54306055 [T/G] NM_001080534 UNC13C EXON Missense_A319S exm1163380 15 54306565 [T/G] NM_001080534 UNC13C EXON Missense_A489S exm1163393 15 54306925 [A/G] NM_001080534 UNC13C EXON Missense_G609S exm1163394 15 54306967 [A/G] NM_001080534 UNC13C EXON Missense_E623K exm1163399 15 54307237 [A/G] NM_001080534 UNC13C EXON Missense_D713N exm1163404 15 54307303 [A/G] NM_001080534 UNC13C EXON Missense_V735I exm1163405 15 54307331 [A/C] NM_001080534 UNC13C EXON Missense_A744D exm1163406 15 54307378 [T/A] NM_001080534 UNC13C EXON Missense_Y760N exm1163409 15 54307574 [C/G] NM_001080534 UNC13C EXON Missense_S825T exm1163412 15 54307601 [A/G] NM_001080534 UNC13C EXON Missense_R834Q exm1834633 15 54307796 [T/A] NM_001080534 UNC13C EXON Missense_D899V exm1163418 15 54307856 [T/A] NM_001080534 UNC13C EXON Missense_D919V exm1163421 15 54307871 [A/G] NM_001080534 UNC13C EXON Missense_G924D exm1163422 15 54307925 [T/C] NM_001080534 UNC13C EXON Missense_S942L exm1163424 15 54308005 [T/C] NM_001080534 UNC13C EXON Missense_R969C exm-rs1897031 15 54341465 [A/G] NM_001080534 UNC13C Silent exm1163429 15 54435821 [A/G] NM_001080534 UNC13C EXON Missense_R1004Q exm1163434 15 54527299 [A/G] NM_001080534 UNC13C EXON Missense_R1048Q exm1834685 15 54614186 [A/G] NM_001080534 UNC13C EXON Missense_V1440I exm1163469 15 54614195 [A/C] NM_001080534 UNC13C EXON Missense_T1443P exm1163471 15 54614234 [A/G] NM_001080534 UNC13C EXON Missense_T1456A exm1834686 15 54614271 [T/G] NM_001080534 UNC13C EXON Missense_R1468L exm-rs10518765 15 54680632 [A/C] NM_001080534 UNC13C Silent exm1163486 15 54685354 [A/G] NM_001080534 UNC13C EXON Missense_T1608A exm1163493 15 54786889 [T/C] NM_001080534 UNC13C EXON Missense_R1673C exm1163494 15 54786909 [T/G] NM_001080534 UNC13C EXON Missense_K1679N exm1163500 15 54792303 [T/G] NM_001080534 UNC13C EXON Missense_W1696L exm1163504 15 54793132 [G/C] NM_001080534 UNC13C EXON Missense_P1753A exm2267836 15 54842584 [A/G] NM_001080534 UNC13C Silent exm1834735 15 54847711 [A/G] NM_001080534 UNC13C Silent exm1163523 15 54860058 [T/C] NM_001080534 UNC13C EXON Missense_L2007F exm2267772 15 54904392 [A/G] NM_001080534 UNC13C Silent exm1163530 15 54914527 [T/C] NM_001080534 UNC13C EXON Missense_R2037C exm1163533 15 54914591 [T/C] NM_001080534 UNC13C EXON Missense_T2058M exm1163542 15 54916071 [A/G] NM_001080534 UNC13C EXON Missense_N2093S exm1163554 15 54919253 [T/C] NM_001080534 UNC13C EXON Missense_V2196A exm2252209 15 55321128 [A/C] exm-rs16976033 15 55456510 [A/G] exm1163558 15 55475527 [T/C] NM_016304 RSL24D1 EXON Missense_R135Q exm2223533 15 55485030 [A/G] NM_016304 RSL24D1 EXON Missense_V28A exm1163584 15 55497811 [T/C] NM_183236,NM_183235,NM_004580,NM_183234 RAB27A,RAB27A,RAB27A,RAB27A EXON Missense_R187Q,Missense_R187Q,Missense_R187Q,Missense_R187Q exm1163585 15 55497812 [A/G] NM_183236,NM_183235,NM_004580,NM_183234 RAB27A,RAB27A,RAB27A,RAB27A EXON Missense_R187W,Missense_R187W,Missense_R187W,Missense_R187W exm1163594 15 55516136 [C/G] NM_183236,NM_183235,NM_004580,NM_183234 RAB27A,RAB27A,RAB27A,RAB27A EXON Missense_Q140E,Missense_Q140E,Missense_Q140E,Missense_Q140E exm1163596 15 55516171 [A/G] NM_183236,NM_183235,NM_004580,NM_183234 RAB27A,RAB27A,RAB27A,RAB27A EXON Missense_I128T,Missense_I128T,Missense_I128T,Missense_I128T exm1163606 15 55520891 [G/C] NM_183236,NM_183235,NM_004580,NM_183234 RAB27A,RAB27A,RAB27A,RAB27A EXON Missense_A87P,Missense_A87P,Missense_A87P,Missense_A87P exm1163628 15 55611603 [A/G] NM_004855 PIGB EXON Missense_R52H exm1163631 15 55612511 [T/A] NM_004855 PIGB EXON Missense_I68L exm1163637 15 55619796 [T/C] NM_004855 PIGB EXON Missense_M162T exm1163649 15 55632859 [T/G] NM_004855 PIGB EXON Missense_W299L exm1163652 15 55632934 [T/C] NM_004855 PIGB EXON Missense_L324S exm1163653 15 55632944 [T/G] NM_004855 PIGB EXON Missense_F327L exm1163669 15 55647090 [G/C] NM_004855 PIGB EXON Missense_L478V exm1163670 15 55647162 [A/G] NM_004855 PIGB EXON Missense_S502G exm1163677 15 55647617 [A/C] NM_004855,NM_020739,NM_001204450,NM_001204451,NM_004748,NR_037923 PIGB,CCPG1,CCPG1,CCPG1,CCPG1,DYX1C1-CCPG1 EXON Missense_K551T,Silent,Silent,Silent,Silent,Silent exm1163687 15 55651926 [T/C] NM_020739,NM_001204450,NM_001204451,NM_004748,NR_037923 CCPG1,CCPG1,CCPG1,CCPG1,DYX1C1-CCPG1 EXON Missense_N682S,Missense_N682S,Silent,Missense_N682S,Silent exm1163693 15 55652089 [G/C] NM_020739,NM_001204450,NM_001204451,NM_004748,NR_037923 CCPG1,CCPG1,CCPG1,CCPG1,DYX1C1-CCPG1 EXON Missense_A628P,Missense_A628P,Silent,Missense_A628P,Silent exm1163695 15 55652187 [T/C] NM_020739,NM_001204450,NM_001204451,NM_004748,NR_037923 CCPG1,CCPG1,CCPG1,CCPG1,DYX1C1-CCPG1 EXON Missense_E595G,Missense_E595G,Silent,Missense_E595G,Silent exm1163699 15 55652403 [T/C] NM_020739,NM_001204450,NM_001204451,NM_004748,NR_037923 CCPG1,CCPG1,CCPG1,CCPG1,DYX1C1-CCPG1 EXON Missense_K523R,Missense_K523R,Silent,Missense_K523R,Silent exm1163704 15 55652605 [T/C] NM_020739,NM_001204450,NM_001204451,NM_004748,NR_037923 CCPG1,CCPG1,CCPG1,CCPG1,DYX1C1-CCPG1 EXON Missense_K456E,Missense_K456E,Silent,Missense_K456E,Silent exm1163709 15 55652719 [A/G] NM_020739,NM_001204450,NM_001204451,NM_004748,NR_037923 CCPG1,CCPG1,CCPG1,CCPG1,DYX1C1-CCPG1 EXON Missense_Y418H,Missense_Y418H,Silent,Missense_Y418H,Silent exm1163710 15 55652758 [A/C] NM_020739,NM_001204450,NM_001204451,NM_004748,NR_037923 CCPG1,CCPG1,CCPG1,CCPG1,DYX1C1-CCPG1 EXON Missense_G405C,Missense_G405C,Silent,Missense_G405C,Silent exm1163720 15 55653105 [A/G] NM_020739,NM_001204450,NM_001204451,NM_004748,NR_037923 CCPG1,CCPG1,CCPG1,CCPG1,DYX1C1-CCPG1 EXON Missense_T289I,Missense_T289I,Missense_T289I,Missense_T289I,Silent exm1163727 15 55663993 [T/C] NM_020739,NM_001204450,NM_001204451,NM_004748,NR_037923 CCPG1,CCPG1,CCPG1,CCPG1,DYX1C1-CCPG1 EXON Missense_Y235C,Missense_Y235C,Missense_Y235C,Missense_Y235C,Silent exm2252212 15 55664073 [T/C] NM_020739,NM_001204450,NM_001204451,NM_004748,NR_037923 CCPG1,CCPG1,CCPG1,CCPG1,DYX1C1-CCPG1 EXON Synonymous_K208K,Synonymous_K208K,Synonymous_K208K,Synonymous_K208K,Silent exm1163732 15 55664110 [C/G] NM_020739,NM_001204450,NM_001204451,NM_004748,NR_037923 CCPG1,CCPG1,CCPG1,CCPG1,DYX1C1-CCPG1 EXON Missense_A196G,Missense_A196G,Missense_A196G,Missense_A196G,Silent exm1163733 15 55664140 [G/C] NM_020739,NM_001204450,NM_001204451,NM_004748,NR_037923 CCPG1,CCPG1,CCPG1,CCPG1,DYX1C1-CCPG1 EXON Missense_S186C,Missense_S186C,Missense_S186C,Missense_S186C,Silent exm1163734 15 55664144 [T/C] NM_020739,NM_001204450,NM_001204451,NM_004748,NR_037923 CCPG1,CCPG1,CCPG1,CCPG1,DYX1C1-CCPG1 EXON Missense_V185I,Missense_V185I,Missense_V185I,Missense_V185I,Silent exm1163737 15 55664191 [T/C] NM_020739,NM_001204450,NM_001204451,NM_004748,NR_037923 CCPG1,CCPG1,CCPG1,CCPG1,DYX1C1-CCPG1 EXON Missense_N169S,Missense_N169S,Missense_N169S,Missense_N169S,Silent exm1163748 15 55669281 [A/G] NM_020739,NM_001204450,NM_001204451,NM_004748,NR_037923 CCPG1,CCPG1,CCPG1,CCPG1,DYX1C1-CCPG1 EXON Missense_V107A,Missense_V107A,Missense_V107A,Missense_V107A,Silent exm1163758 15 55677848 [T/C] NM_020739,NM_001204450,NM_001204451,NM_004748,NR_037923 CCPG1,CCPG1,CCPG1,CCPG1,DYX1C1-CCPG1 EXON Missense_C42Y,Missense_C42Y,Missense_C42Y,Missense_C42Y,Silent exm1163765 15 55700981 [A/C] NR_037923,NM_001198784 DYX1C1-CCPG1,FLJ27352 EXON Silent,Missense_N5K exm1163768 15 55710289 [A/G] NR_037923,NM_001198784,NM_001033560 DYX1C1-CCPG1,FLJ27352,DYX1C1 EXON Silent,Silent,Missense_P364S exm1163774 15 55710697 [A/G] NR_037923,NM_001198784,NM_001033560 DYX1C1-CCPG1,FLJ27352,DYX1C1 EXON Silent,Missense_N99D,Silent exm1163775 15 55722872 [G/C] NR_037923,NM_001033560,NM_130810,NM_001033559 DYX1C1-CCPG1,DYX1C1,DYX1C1,DYX1C1 EXON Silent,Silent,Missense_S420C,Silent exm1163776 15 55722882 [A/C] NR_037923,NM_001033560,NM_130810,NM_001033559 DYX1C1-CCPG1,DYX1C1,DYX1C1,DYX1C1 EXON Silent,Silent,Nonsense_E417X,Silent exm1834888 15 55724752 [T/C] NR_037923,NM_001033560,NM_130810,NM_001033559 DYX1C1-CCPG1,DYX1C1,DYX1C1,DYX1C1 EXON Silent,Silent,Missense_M366V,Silent exm1163790 15 55727162 [A/G] NR_037923,NM_001033560,NM_130810,NM_001033559 DYX1C1-CCPG1,DYX1C1,DYX1C1,DYX1C1 EXON Silent,Missense_R330W,Missense_R330W,Missense_R330W exm1163794 15 55731682 [T/A] NR_037923,NM_001033560,NM_130810,NM_001033559 DYX1C1-CCPG1,DYX1C1,DYX1C1,DYX1C1 EXON Silent,Missense_K294M,Missense_K294M,Missense_K294M exm1163795 15 55731701 [T/C] NR_037923,NM_001033560,NM_130810,NM_001033559 DYX1C1-CCPG1,DYX1C1,DYX1C1,DYX1C1 EXON Silent,Missense_K288E,Missense_K288E,Missense_K288E exm1163798 15 55731773 [T/G] NR_037923,NM_001033560,NM_130810,NM_001033559 DYX1C1-CCPG1,DYX1C1,DYX1C1,DYX1C1 EXON Silent,Missense_H264N,Missense_H264N,Missense_H264N exm1163805 15 55759193 [T/C] NR_037923,NM_001033560,NM_130810,NM_001033559 DYX1C1-CCPG1,DYX1C1,DYX1C1,DYX1C1 EXON Silent,Missense_E191G,Missense_E191G,Missense_E191G exm1163807 15 55759311 [A/G] NR_037923,NM_001033560,NM_130810,NM_001033559 DYX1C1-CCPG1,DYX1C1,DYX1C1,DYX1C1 EXON Silent,Missense_R152W,Missense_R152W,Missense_R152W exm1163814 15 55789910 [T/C] NR_037923,NM_001033560,NM_130810,NM_001033559 DYX1C1-CCPG1,DYX1C1,DYX1C1,DYX1C1 EXON Silent,Missense_V91I,Missense_V91I,Missense_V91I exm1163817 15 55789984 [A/G] NR_037923,NM_001033560,NM_130810,NM_001033559 DYX1C1-CCPG1,DYX1C1,DYX1C1,DYX1C1 EXON Silent,Missense_I66T,Missense_I66T,Missense_I66T exm1163822 15 55790053 [T/C] NR_037923,NM_001033560,NM_130810,NM_001033559 DYX1C1-CCPG1,DYX1C1,DYX1C1,DYX1C1 EXON Silent,Missense_N43S,Missense_N43S,Missense_N43S exm1163825 15 55790405 [T/C] NR_037923,NM_001033560,NM_130810,NM_001033559 DYX1C1-CCPG1,DYX1C1,DYX1C1,DYX1C1 EXON Silent,Synonymous_K41K,Synonymous_K41K,Synonymous_K41K exm1163826 15 55790414 [T/G] NR_037923,NM_001033560,NM_130810,NM_001033559 DYX1C1-CCPG1,DYX1C1,DYX1C1,DYX1C1 EXON Silent,Missense_N38K,Missense_N38K,Missense_N38K exm1163832 15 55790524 [A/G] NR_037923,NM_001033560,NM_130810,NM_001033559 DYX1C1-CCPG1,DYX1C1,DYX1C1,DYX1C1 EXON Silent,Missense_P2S,Missense_P2S,Missense_P2S exm2260447 15 55809660 [T/C] exm1163841 15 55838267 [T/C] NM_015617 PYGO1 EXON Missense_R405H exm1163850 15 55838504 [A/G] NM_015617 PYGO1 EXON Missense_S326F exm1163860 15 55838585 [T/G] NM_015617 PYGO1 EXON Missense_P299H exm1163868 15 55838772 [T/G] NM_015617 PYGO1 EXON Missense_P237T exm1163873 15 55838976 [G/C] NM_015617 PYGO1 EXON Missense_V169L exm1163875 15 55839017 [A/C] NM_015617 PYGO1 EXON Missense_S155I exm1163884 15 55839224 [A/G] NM_015617 PYGO1 EXON Missense_S86L exm1163898 15 55881002 [T/C] NM_015617 PYGO1 EXON Missense_G17S exm1163907 15 55912234 [T/C] NM_173814 PRTG EXON Missense_I1143M exm1163911 15 55912325 [T/C] NM_173814 PRTG EXON Missense_H1113R exm1834939 15 55912380 [C/G] NM_173814 PRTG EXON Missense_P1095A exm1163917 15 55912391 [A/G] NM_173814 PRTG EXON Missense_S1091F exm1163918 15 55912875 [A/T] NM_173814 PRTG EXON Missense_I1062L exm1163920 15 55912937 [T/C] NM_173814 PRTG EXON Missense_Y1041C exm1163925 15 55916656 [A/G] NM_173814 PRTG EXON Missense_R993C exm1163928 15 55916685 [A/G] NM_173814 PRTG EXON Missense_T983M exm1163929 15 55916703 [T/G] NM_173814 PRTG EXON Missense_K977T exm1163931 15 55919220 [T/G] NM_173814 PRTG EXON Nonsense_Y971X exm1163936 15 55921043 [T/C] NM_173814 PRTG EXON Missense_R928H exm2223537 15 55921152 [T/C] NM_173814 PRTG EXON Missense_I892V exm1163941 15 55929382 [A/C] NM_173814 PRTG EXON Missense_V870G exm1163944 15 55929515 [C/G] NM_173814 PRTG EXON Missense_V826L exm1163957 15 55931949 [A/G] NM_173814 PRTG EXON Missense_F739L exm1163969 15 55933314 [T/C] NM_173814 PRTG EXON Missense_V712M exm2274754 15 55933382 [A/C] NM_173814 PRTG EXON Missense_R689I exm2272247 15 55958417 [T/C] NM_173814 PRTG Silent exm1163977 15 55964644 [T/C] NM_173814 PRTG EXON Synonymous_L680L exm1163982 15 55964778 [G/C] NM_173814 PRTG EXON Missense_V636L exm1163994 15 55965738 [A/C] NM_173814 PRTG EXON Missense_E561D exm1163998 15 55967741 [A/C] NM_173814 PRTG EXON Missense_V508L exm1164008 15 55970235 [T/C] NM_173814 PRTG EXON Missense_V381I exm1164019 15 55972398 [A/G] NM_173814 PRTG EXON Missense_I276T exm1164023 15 55972797 [T/C] NM_173814 PRTG EXON Missense_T236A exm1164027 15 55972815 [T/C] NM_173814 PRTG EXON Missense_K230E exm1164038 15 55976015 [T/C] NM_173814 PRTG EXON Missense_N171S exm2223543 15 55976044 [T/G] NM_173814 PRTG EXON Missense_H161Q exm1164040 15 55976048 [A/G] NM_173814 PRTG EXON Missense_S160F exm1164041 15 55976057 [T/C] NM_173814 PRTG EXON Missense_K157R exm1164043 15 55976103 [T/C] NM_173814 PRTG EXON Missense_I142V exm1164047 15 56032665 [G/C] NM_173814 PRTG EXON Missense_E104D exm1164053 15 56032840 [T/C] NM_173814 PRTG EXON Missense_Q46R exm1164063 15 56122778 [T/C] NM_198400,NM_006154 NEDD4,NEDD4 EXON Missense_N1192S,Missense_N845S exm1164077 15 56126450 [T/C] NM_198400,NM_006154 NEDD4,NEDD4 EXON Missense_K1113R,Missense_K766R exm1164102 15 56139186 [T/C] NM_198400,NM_006154 NEDD4,NEDD4 EXON Missense_R877Q,Missense_R530Q exm1164121 15 56144629 [A/G] NM_198400,NM_006154 NEDD4,NEDD4 EXON Missense_T727I,Missense_T380I exm1164127 15 56148337 [A/G] NM_198400,NM_006154 NEDD4,NEDD4 EXON Missense_L687F,Missense_L340F exm1164134 15 56152729 [T/C] NM_198400,NM_006154 NEDD4,NEDD4 EXON Missense_N626S,Missense_N279S exm1164137 15 56152872 [T/C] NM_198400,NM_006154 NEDD4,NEDD4 EXON Missense_R607Q,Missense_R260Q exm1164142 15 56161779 [G/C] NM_198400,NM_006154 NEDD4,NEDD4 EXON Silent,Missense_E169Q exm1164155 15 56207678 [C/G] NM_198400,NM_006154 NEDD4,NEDD4 EXON Missense_G451A,Silent exm1164163 15 56207811 [T/G] NM_198400,NM_006154 NEDD4,NEDD4 EXON Missense_N407H,Silent exm1164166 15 56207883 [A/G] NM_198400,NM_006154 NEDD4,NEDD4 EXON Nonsense_R383X,Silent exm1835077 15 56207889 [T/C] NM_198400,NM_006154 NEDD4,NEDD4 EXON Missense_T381A,Silent exm1164167 15 56207906 [A/C] NM_198400,NM_006154 NEDD4,NEDD4 EXON Missense_C375F,Silent exm1164175 15 56208108 [A/G] NM_198400,NM_006154 NEDD4,NEDD4 EXON Missense_H308Y,Silent exm1164183 15 56208159 [T/C] NM_198400,NM_006154 NEDD4,NEDD4 EXON Missense_G291R,Silent exm1164189 15 56208221 [A/G] NM_198400,NM_006154 NEDD4,NEDD4 EXON Missense_P270L,Silent exm1164190 15 56208227 [A/G] NM_198400,NM_006154 NEDD4,NEDD4 EXON Missense_I268T,Silent exm1164197 15 56208463 [A/C] NM_198400,NM_006154 NEDD4,NEDD4 EXON Missense_S189R,Silent exm1164199 15 56208476 [A/T] NM_198400,NM_006154 NEDD4,NEDD4 EXON Missense_V185D,Silent exm1164202 15 56208534 [T/C] NM_198400,NM_006154 NEDD4,NEDD4 EXON Missense_G166S,Silent exm1164206 15 56208645 [T/C] NM_198400,NM_006154 NEDD4,NEDD4 EXON Missense_D129N,Silent exm1164214 15 56208822 [C/G] NM_198400,NM_006154 NEDD4,NEDD4 EXON Missense_E70Q,Silent exm1164216 15 56208835 [T/G] NM_198400,NM_006154 NEDD4,NEDD4 EXON Missense_N65K,Silent exm1164219 15 56208933 [T/C] NM_198400,NM_006154 NEDD4,NEDD4 EXON Missense_M33V,Silent exm1164221 15 56208943 [T/G] NM_198400,NM_006154 NEDD4,NEDD4 EXON Missense_S29R,Silent exm1164223 15 56208956 [T/C] NM_198400,NM_006154 NEDD4,NEDD4 EXON Missense_D25G,Silent exm1164228 15 56208983 [T/G] NM_198400,NM_006154 NEDD4,NEDD4 EXON Missense_T16N,Silent exm1835086 15 56209025 [A/G] NM_198400,NM_006154 NEDD4,NEDD4 EXON Missense_A2V,Silent exm1164241 15 56258734 [T/C] NM_006154 NEDD4 EXON Missense_R19Q exm1164245 15 56285723 [A/G] NM_006154 NEDD4 EXON Missense_L11F exm-rs7169431 15 56340896 [A/G] exm1164248 15 56385775 [A/G] NM_022841 RFX7 EXON Missense_I1384T exm1164252 15 56385868 [A/G] NM_022841 RFX7 EXON Missense_L1353P exm1164257 15 56385955 [T/C] NM_022841 RFX7 EXON Missense_G1324D exm1164259 15 56386052 [T/C] NM_022841 RFX7 EXON Missense_V1292I exm1164268 15 56386286 [T/C] NM_022841 RFX7 EXON Missense_A1214T exm1164277 15 56386577 [T/G] NM_022841 RFX7 EXON Missense_N1117H exm1164303 15 56387226 [A/C] NM_022841 RFX7 EXON Missense_M900I exm1164325 15 56387960 [A/G] NM_022841 RFX7 EXON Missense_P656S exm1164326 15 56387972 [T/A] NM_022841 RFX7 EXON Missense_C652S exm1164331 15 56388173 [T/C] NM_022841 RFX7 EXON Missense_E585K exm1164339 15 56388298 [A/G] NM_022841 RFX7 EXON Missense_T543I exm1164340 15 56388334 [A/C] NM_022841 RFX7 EXON Missense_G531V exm1164341 15 56388356 [A/G] NM_022841 RFX7 EXON Missense_S524P exm1164344 15 56388407 [T/C] NM_022841 RFX7 EXON Missense_S507G exm1164354 15 56388802 [T/G] NM_022841 RFX7 EXON Missense_Q375P exm1164369 15 56390496 [A/G] NM_022841 RFX7 EXON Missense_L297S exm1835125 15 56393697 [T/C] NM_022841 RFX7 EXON Missense_R224H exm2267773 15 56551747 [A/G] exm1164400 15 56657796 [A/C] NM_198524 TEX9 EXON Missense_T16N exm1164402 15 56657826 [T/C] NM_198524 TEX9 EXON Missense_S26F exm1164407 15 56676165 [T/G] NM_198524 TEX9 EXON Missense_V67L exm2223545 15 56676176 [T/G] NM_198524 TEX9 EXON Missense_R70S exm1164412 15 56676229 [A/G] NM_198524 TEX9 EXON Missense_R88K exm1164423 15 56683503 [C/G] NM_198524 TEX9 EXON Nonsense_S153X exm1164425 15 56683509 [T/C] NM_198524 TEX9 EXON Missense_F155S exm1835156 15 56686401 [A/G] NM_198524 TEX9 EXON Missense_M204V exm1164433 15 56686931 [A/G] NM_198524 TEX9 EXON Missense_I243V exm1164434 15 56686989 [A/G] NM_198524 TEX9 EXON Missense_K262R exm1164437 15 56687032 [G/C] NM_198524 TEX9 EXON Missense_R276S exm1164442 15 56704567 [T/G] NM_198524 TEX9 EXON Missense_L299W exm1164448 15 56719803 [T/G] NM_198524 TEX9 EXON Missense_D322Y exm1164456 15 56721299 [T/C] NM_198524,NM_018365 TEX9,MNS1 EXON Silent,Missense_X496W exm1164457 15 56721300 [A/C] NM_198524,NM_018365 TEX9,MNS1 EXON Silent,Missense_X496L exm1164472 15 56723692 [T/C] NM_198524,NM_018365 TEX9,MNS1 EXON Silent,Missense_R425H exm1164474 15 56726359 [A/G] NM_198524,NM_018365 TEX9,MNS1 EXON Silent,Missense_R416C exm1164478 15 56726443 [G/C] NM_198524,NM_018365 TEX9,MNS1 EXON Silent,Missense_R388G exm1164479 15 56726449 [C/G] NM_198524,NM_018365 TEX9,MNS1 EXON Silent,Missense_D386H exm2264560 15 56732192 [A/C] NM_198524,NM_018365 TEX9,MNS1 Silent,Silent exm1164488 15 56735708 [A/G] NM_198524,NM_018365 TEX9,MNS1 EXON Silent,Missense_R311W exm1164500 15 56736015 [A/G] NM_198524,NM_018365 TEX9,MNS1 EXON Silent,Nonsense_R242X exm2223548 15 56736025 [A/C] NM_198524,NM_018365 TEX9,MNS1 EXON Silent,Missense_M238I exm1164503 15 56736681 [A/G] NM_198524,NM_018365 TEX9,MNS1 EXON Silent,Missense_I216T exm1164507 15 56736733 [T/C] NM_198524,NM_018365 TEX9,MNS1 EXON Silent,Missense_E199K exm1164527 15 56756243 [A/G] NM_018365 MNS1 EXON Missense_M69T exm1164529 15 56756285 [T/G] NM_018365 MNS1 EXON Missense_Q55P exm1164537 15 56756420 [T/C] NM_018365 MNS1 EXON Missense_C10Y exm1164548 15 56923700 [T/C] NM_001002843,NM_017661 ZNF280D,ZNF280D EXON Missense_S966N,Missense_S979N exm1164554 15 56923895 [A/C] NM_001002843,NM_017661 ZNF280D,ZNF280D EXON Missense_G901V,Missense_G914V exm1164556 15 56923952 [T/C] NM_001002843,NM_017661 ZNF280D,ZNF280D EXON Missense_Q882R,Missense_Q895R exm1164558 15 56923982 [T/C] NM_001002843,NM_017661 ZNF280D,ZNF280D EXON Missense_R872Q,Missense_R885Q exm1164564 15 56924103 [T/C] NM_001002843,NM_017661 ZNF280D,ZNF280D EXON Missense_V832I,Missense_V845I exm1164565 15 56924114 [T/G] NM_001002843,NM_017661 ZNF280D,ZNF280D EXON Missense_Q828P,Missense_Q841P exm1164566 15 56924163 [T/C] NM_001002843,NM_017661 ZNF280D,ZNF280D EXON Missense_V812I,Missense_V825I exm1164580 15 56946633 [T/G] NM_001002843,NM_017661 ZNF280D,ZNF280D EXON Missense_T696K,Missense_T709K exm1164581 15 56946640 [T/C] NM_001002843,NM_017661 ZNF280D,ZNF280D EXON Missense_M694V,Missense_M707V exm1164593 15 56958922 [T/C] NM_001002843,NM_017661 ZNF280D,ZNF280D EXON Missense_S590N,Missense_S603N exm1164599 15 56959028 [T/C] NM_001002843,NM_017661 ZNF280D,ZNF280D EXON Missense_V555I,Missense_V568I exm1164603 15 56959132 [A/G] NM_001002843,NM_017661 ZNF280D,ZNF280D EXON Missense_P520L,Missense_P533L exm1164647 15 56993087 [T/C] NM_001002843,NM_017661,NM_001002844 ZNF280D,ZNF280D,ZNF280D EXON Silent,Silent,Missense_G142E exm1835226 15 56993231 [A/G] NM_001002843,NM_017661,NM_001002844 ZNF280D,ZNF280D,ZNF280D EXON Missense_T81M,Missense_T94M,Missense_T94M exm1164654 15 56993268 [T/C] NM_001002843,NM_017661,NM_001002844 ZNF280D,ZNF280D,ZNF280D EXON Missense_I69V,Missense_I82V,Missense_I82V exm1164655 15 56993376 [T/C] NM_001002843,NM_017661,NM_001002844 ZNF280D,ZNF280D,ZNF280D EXON Missense_S66N,Missense_S79N,Missense_S79N exm2272305 15 57029988 [T/C] exm2272248 15 57353034 [T/C] NM_003205,NM_207036,NM_207037,NM_207038 TCF12,TCF12,TCF12,TCF12 Silent,Silent,Silent,Silent exm1164692 15 57484419 [T/C] NM_003205,NM_207036,NM_207037,NM_207038 TCF12,TCF12,TCF12,TCF12 EXON Missense_P152S,Missense_P152S,Missense_P152S,Missense_P152S exm1164694 15 57484486 [T/C] NM_003205,NM_207036,NM_207037,NM_207038 TCF12,TCF12,TCF12,TCF12 EXON Missense_A174V,Missense_A174V,Missense_A174V,Missense_A174V exm1164700 15 57511749 [C/G] NM_003205,NM_207036,NM_207037,NM_207038,NM_207040 TCF12,TCF12,TCF12,TCF12,TCF12 EXON Silent,Silent,Silent,Silent,Missense_M10I exm1164703 15 57511788 [A/G] NM_003205,NM_207036,NM_207037,NM_207038,NM_207040 TCF12,TCF12,TCF12,TCF12,TCF12 EXON Silent,Silent,Silent,Silent,Synonymous_T23T exm1164718 15 57524982 [A/G] NM_003205,NM_207036,NM_207037,NM_207038,NM_207040 TCF12,TCF12,TCF12,TCF12,TCF12 EXON Missense_G300S,Missense_G300S,Missense_G300S,Missense_G300S,Missense_G130S exm1164720 15 57525030 [A/G] NM_003205,NM_207036,NM_207037,NM_207038,NM_207040 TCF12,TCF12,TCF12,TCF12,TCF12 EXON Missense_I316V,Missense_I316V,Missense_I316V,Missense_I316V,Missense_I146V exm1164721 15 57525034 [A/G] NM_003205,NM_207036,NM_207037,NM_207038,NM_207040 TCF12,TCF12,TCF12,TCF12,TCF12 EXON Missense_N317S,Missense_N317S,Missense_N317S,Missense_N317S,Missense_N147S exm1835282 15 57545643 [A/G] NM_003205,NM_207036,NM_207037,NM_207038,NM_207040 TCF12,TCF12,TCF12,TCF12,TCF12 EXON Missense_A458T,Missense_A482T,Missense_A482T,Missense_A458T,Missense_A288T exm1164737 15 57545664 [A/G] NM_003205,NM_207036,NM_207037,NM_207038,NM_207040 TCF12,TCF12,TCF12,TCF12,TCF12 EXON Missense_M465V,Missense_M489V,Missense_M489V,Missense_M465V,Missense_M295V exm1164762 15 57574723 [A/G] NM_003205,NM_207036,NM_207037,NM_207038,NM_207040 TCF12,TCF12,TCF12,TCF12,TCF12 EXON Missense_T663A,Missense_T687A,Missense_T687A,Missense_T663A,Missense_T493A exm1164773 15 57730466 [A/G] NM_032866,NM_001252335 CGNL1,CGNL1 EXON Missense_N90S,Missense_N90S exm1164779 15 57730537 [A/G] NM_032866,NM_001252335 CGNL1,CGNL1 EXON Missense_I114V,Missense_I114V exm1164783 15 57730595 [A/G] NM_032866,NM_001252335 CGNL1,CGNL1 EXON Missense_K133R,Missense_K133R exm1164796 15 57730939 [A/G] NM_032866,NM_001252335 CGNL1,CGNL1 EXON Missense_E248K,Missense_E248K exm1164799 15 57730999 [A/T] NM_032866,NM_001252335 CGNL1,CGNL1 EXON Missense_T268S,Missense_T268S exm1164804 15 57731161 [G/C] NM_032866,NM_001252335 CGNL1,CGNL1 EXON Missense_H322D,Missense_H322D exm1164808 15 57731177 [A/G] NM_032866,NM_001252335 CGNL1,CGNL1 EXON Missense_N327S,Missense_N327S exm1164810 15 57731182 [T/C] NM_032866,NM_001252335 CGNL1,CGNL1 EXON Missense_H329Y,Missense_H329Y exm1164813 15 57731228 [A/G] NM_032866,NM_001252335 CGNL1,CGNL1 EXON Missense_D344G,Missense_D344G exm1164816 15 57731293 [T/C] NM_032866,NM_001252335 CGNL1,CGNL1 EXON Missense_L366F,Missense_L366F exm1164818 15 57731302 [A/G] NM_032866,NM_001252335 CGNL1,CGNL1 EXON Missense_R369G,Missense_R369G exm1164819 15 57731303 [A/G] NM_032866,NM_001252335 CGNL1,CGNL1 EXON Missense_R369K,Missense_R369K exm1164822 15 57731335 [A/C] NM_032866,NM_001252335 CGNL1,CGNL1 EXON Missense_T380P,Missense_T380P exm1164825 15 57731384 [T/G] NM_032866,NM_001252335 CGNL1,CGNL1 EXON Missense_G396V,Missense_G396V exm1835304 15 57731443 [G/C] NM_032866,NM_001252335 CGNL1,CGNL1 EXON Missense_E416Q,Missense_E416Q exm1164831 15 57731515 [T/G] NM_032866,NM_001252335 CGNL1,CGNL1 EXON Missense_V440L,Missense_V440L exm1164837 15 57731573 [T/C] NM_032866,NM_001252335 CGNL1,CGNL1 EXON Missense_S459F,Missense_S459F exm1164838 15 57731593 [A/G] NM_032866,NM_001252335 CGNL1,CGNL1 EXON Missense_I466V,Missense_I466V exm1164841 15 57731627 [A/G] NM_032866,NM_001252335 CGNL1,CGNL1 EXON Missense_Q477R,Missense_Q477R exm1164842 15 57731630 [T/A] NM_032866,NM_001252335 CGNL1,CGNL1 EXON Missense_E478V,Missense_E478V exm1164849 15 57731718 [T/G] NM_032866,NM_001252335 CGNL1,CGNL1 EXON Missense_Q507H,Missense_Q507H exm1164850 15 57731728 [A/G] NM_032866,NM_001252335 CGNL1,CGNL1 EXON Missense_T511A,Missense_T511A exm1164857 15 57732606 [A/T] NM_032866,NM_001252335 CGNL1,CGNL1 EXON Missense_E545V,Missense_E545V exm1164859 15 57734575 [A/G] NM_032866,NM_001252335 CGNL1,CGNL1 EXON Missense_T568A,Missense_T568A exm1164864 15 57734659 [A/G] NM_032866,NM_001252335 CGNL1,CGNL1 EXON Missense_A596T,Missense_A596T exm1164872 15 57744415 [A/G] NM_032866,NM_001252335 CGNL1,CGNL1 EXON Missense_K661R,Missense_K661R exm1164878 15 57745898 [T/C] NM_032866,NM_001252335 CGNL1,CGNL1 EXON Missense_M691T,Missense_M691T exm1164882 15 57745960 [A/G] NM_032866,NM_001252335 CGNL1,CGNL1 EXON Missense_D712N,Missense_D712N exm1164898 15 57754089 [A/G] NM_032866,NM_001252335 CGNL1,CGNL1 EXON Missense_K801R,Missense_K801R exm-rs2934442 15 57762793 [T/C] NM_032866,NM_001252335 CGNL1,CGNL1 Silent,Silent exm1164901 15 57809027 [T/C] NM_032866,NM_001252335 CGNL1,CGNL1 EXON Missense_A818V,Missense_A818V exm1164908 15 57809094 [C/G] NM_032866,NM_001252335 CGNL1,CGNL1 EXON Missense_E840D,Missense_E840D exm1164910 15 57809116 [T/C] NM_032866,NM_001252335 CGNL1,CGNL1 EXON Missense_L848F,Missense_L848F exm1164915 15 57809153 [T/C] NM_032866,NM_001252335 CGNL1,CGNL1 EXON Missense_A860V,Missense_A860V exm1164916 15 57809159 [T/C] NM_032866,NM_001252335 CGNL1,CGNL1 EXON Missense_A862V,Missense_A862V exm1164918 15 57809168 [T/C] NM_032866,NM_001252335 CGNL1,CGNL1 EXON Missense_T865M,Missense_T865M exm1164922 15 57810601 [A/G] NM_032866,NM_001252335 CGNL1,CGNL1 EXON Missense_R874Q,Missense_R874Q exm1164926 15 57810632 [A/C] NM_032866,NM_001252335 CGNL1,CGNL1 EXON Missense_R884S,Missense_R884S exm1164929 15 57815748 [A/G] NM_032866,NM_001252335 CGNL1,CGNL1 EXON Missense_S926N,Missense_S926N exm1164941 15 57816921 [A/G] NM_032866,NM_001252335 CGNL1,CGNL1 EXON Missense_R1004Q,Missense_R1004Q exm2252218 15 57816946 [T/C] NM_032866,NM_001252335 CGNL1,CGNL1 EXON Synonymous_D1012D,Synonymous_D1012D exm1164945 15 57820861 [A/G] NM_032866,NM_001252335 CGNL1,CGNL1 EXON Missense_M1017V,Missense_M1017V exm1164946 15 57820876 [T/C] NM_032866,NM_001252335 CGNL1,CGNL1 EXON Missense_R1022W,Missense_R1022W exm1164949 15 57820991 [A/G] NM_032866,NM_001252335 CGNL1,CGNL1 EXON Missense_S1060N,Missense_S1060N exm1164955 15 57835903 [T/G] NM_032866,NM_001252335 CGNL1,CGNL1 EXON Missense_L1101V,Missense_L1101V exm2277079 15 57835907 [A/G] NM_032866,NM_001252335 CGNL1,CGNL1 EXON Missense_R1102K,Missense_R1102K exm1164958 15 57835958 [A/G] NM_032866,NM_001252335 CGNL1,CGNL1 EXON Missense_K1119R,Missense_K1119R exm1164962 15 57836690 [A/G] NM_032866,NM_001252335 CGNL1,CGNL1 EXON Missense_R1132Q,Missense_R1132Q exm1164963 15 57836696 [T/C] NM_032866,NM_001252335 CGNL1,CGNL1 EXON Missense_I1134T,Missense_I1134T exm1164967 15 57836761 [A/G] NM_032866,NM_001252335 CGNL1,CGNL1 EXON Missense_A1156T,Missense_A1156T exm1164968 15 57836762 [T/C] NM_032866,NM_001252335 CGNL1,CGNL1 EXON Missense_A1156V,Missense_A1156V exm1164973 15 57837791 [T/G] NM_032866,NM_001252335 CGNL1,CGNL1 EXON Missense_D1168Y,Missense_D1168Y exm1164975 15 57837882 [C/G] NM_032866,NM_001252335 CGNL1,CGNL1 EXON Missense_T1198S,Missense_T1198S exm1164979 15 57838308 [T/G] NM_032866,NM_001252335 CGNL1,CGNL1 EXON Missense_V1215G,Missense_V1215G exm1164982 15 57838390 [A/G] NM_032866,NM_001252335 CGNL1,CGNL1 EXON Missense_M1242I,Missense_M1242I exm1164986 15 57839587 [A/G] NM_032866,NM_001252335 CGNL1,CGNL1 EXON Missense_M1270V,Missense_M1270V exm1164994 15 57839663 [A/G] NM_032866,NM_001252335 CGNL1,CGNL1 EXON Missense_D1295G,Missense_D1295G exm1164995 15 57839671 [A/G] NM_032866,NM_001252335 CGNL1,CGNL1 EXON Missense_V1298I,Missense_V1298I exm1165006 15 57896482 [A/C] NM_152451,NM_001018100,NM_001018090,NM_001018091 MYZAP,MYZAP,GCOM1,GCOM1 EXON Missense_L31I,Missense_L31I,Missense_L31I,Missense_L31I exm1165013 15 57910241 [T/C] NM_152451,NM_001018100,NM_001018090,NM_001018091 MYZAP,MYZAP,GCOM1,GCOM1 EXON Missense_L58P,Missense_L58P,Missense_L58P,Missense_L58P exm1835375 15 57910333 [A/G] NM_152451,NM_001018100,NM_001018090,NM_001018091 MYZAP,MYZAP,GCOM1,GCOM1 EXON Missense_V89M,Missense_V89M,Missense_V89M,Missense_V89M exm1165023 15 57918041 [A/G] NM_152451,NM_001018100,NM_001018090,NM_001018091 MYZAP,MYZAP,GCOM1,GCOM1 EXON Missense_R159H,Missense_R159H,Missense_R159H,Missense_R159H exm1165026 15 57918090 [A/G] NM_152451,NM_001018100,NM_001018090,NM_001018091 MYZAP,MYZAP,GCOM1,GCOM1 EXON Synonymous_Q175Q,Synonymous_Q175Q,Synonymous_Q175Q,Synonymous_Q175Q exm1165028 15 57921912 [A/G] NM_152451,NM_001018100,NM_001018090,NM_001018091 MYZAP,MYZAP,GCOM1,GCOM1 EXON Missense_D180N,Missense_D180N,Missense_D180N,Missense_D180N exm1165035 15 57924639 [T/C] NM_152451,NM_001018100,NM_001018090,NM_001018091 MYZAP,MYZAP,GCOM1,GCOM1 EXON Missense_S229L,Missense_S229L,Missense_S229L,Missense_S229L exm1165045 15 57925836 [T/C] NM_152451,NM_001018100,NM_001018090,NM_001018091 MYZAP,MYZAP,GCOM1,GCOM1 EXON Missense_A277V,Missense_A277V,Missense_A277V,Missense_A277V exm1165047 15 57925844 [A/G] NM_152451,NM_001018100,NM_001018090,NM_001018091 MYZAP,MYZAP,GCOM1,GCOM1 EXON Missense_E280K,Missense_E280K,Missense_E280K,Missense_E280K exm1165049 15 57925873 [G/C] NM_152451,NM_001018100,NM_001018090,NM_001018091 MYZAP,MYZAP,GCOM1,GCOM1 EXON Missense_E289D,Missense_E289D,Missense_E289D,Missense_E289D exm1165058 15 57929927 [A/G] NM_152451,NM_001018100,NM_001018090,NM_001018091 MYZAP,MYZAP,GCOM1,GCOM1 EXON Missense_H323R,Missense_H323R,Missense_H323R,Missense_H323R exm1165059 15 57929969 [A/G] NM_152451,NM_001018100,NM_001018090,NM_001018091 MYZAP,MYZAP,GCOM1,GCOM1 EXON Missense_E337G,Missense_E337G,Missense_E337G,Missense_E337G exm1165064 15 57953648 [A/C] NM_152451,NM_001018100,NM_001018090,NM_001018091 MYZAP,MYZAP,GCOM1,GCOM1 EXON Silent,Missense_I374L,Missense_I374L,Missense_I374L exm1165074 15 57967220 [A/G] NM_152451,NM_001018100,NM_001018090,NM_001018091 MYZAP,MYZAP,GCOM1,GCOM1 EXON Missense_E392K,Missense_E420K,Missense_E420K,Missense_E420K exm1165075 15 57967256 [T/C] NM_152451,NM_001018100,NM_001018090,NM_001018091 MYZAP,MYZAP,GCOM1,GCOM1 EXON Missense_L404F,Missense_L432F,Missense_L432F,Missense_L432F exm1165082 15 57976642 [G/C] NM_152451,NM_001018100,NM_001018090,NM_001018091 MYZAP,MYZAP,GCOM1,GCOM1 EXON Missense_N421K,Missense_N449K,Silent,Silent exm2267837 15 57983875 [A/G] NM_001018090,NM_001018091 GCOM1,GCOM1 Silent,Silent exm1165088 15 57999127 [T/G] NM_001018090,NM_001018091,NM_001018102,NM_015532,NR_027390 GCOM1,GCOM1,POLR2M,POLR2M,POLR2M EXON Silent,Silent,Missense_K29N,Missense_K29N,Silent exm1165114 15 58001325 [A/G] NM_001018090,NM_001018091,NM_001018102,NM_015532,NR_027390 GCOM1,GCOM1,POLR2M,POLR2M,POLR2M EXON Silent,Silent,Silent,Missense_R176H,Silent exm1165121 15 58001424 [T/C] NM_001018090,NM_001018091,NM_001018102,NM_015532,NR_027390 GCOM1,GCOM1,POLR2M,POLR2M,POLR2M EXON Silent,Silent,Missense_S52L,Missense_S209L,Silent exm2252219 15 58177757 [A/C] exm-rs1550576 15 58213414 [T/C] exm1835455 15 58254226 [T/C] NM_001206897,NM_003888,NM_170697,NM_170696 ALDH1A2,ALDH1A2,ALDH1A2,ALDH1A2 EXON Missense_R391Q,Missense_R412Q,Missense_R316Q,Missense_R374Q exm1165164 15 58256127 [T/C] NM_001206897,NM_003888,NM_170697,NM_170696 ALDH1A2,ALDH1A2,ALDH1A2,ALDH1A2 EXON Missense_V327I,Missense_V348I,Missense_V252I,Missense_V310I exm1165171 15 58256261 [T/G] NM_001206897,NM_003888,NM_170697,NM_170696 ALDH1A2,ALDH1A2,ALDH1A2,ALDH1A2 EXON Missense_Y282S,Missense_Y303S,Missense_Y207S,Missense_Y265S exm2252220 15 58306161 [T/C] NM_001206897,NM_003888,NM_170697,NM_170696 ALDH1A2,ALDH1A2,ALDH1A2,ALDH1A2 EXON Synonymous_L65L,Synonymous_L86L,Silent,Synonymous_L86L exm1165202 15 58306424 [T/C] NM_001206897,NM_003888,NM_170696 ALDH1A2,ALDH1A2,ALDH1A2 EXON Missense_Y37C,Missense_Y58C,Missense_Y58C exm2223557 15 58306448 [T/C] NM_001206897,NM_003888,NM_170696 ALDH1A2,ALDH1A2,ALDH1A2 EXON Missense_E29G,Missense_E50G,Missense_E50G exm1165209 15 58357800 [T/C] NM_001206897,NM_003888,NM_170696 ALDH1A2,ALDH1A2,ALDH1A2 EXON Silent,Missense_A17T,Missense_A17T exm2260450 15 58396973 [T/C] exm1835492 15 58430844 [T/G] NM_020980 AQP9 EXON Missense_L27R exm1165231 15 58465314 [T/C] NM_020980 AQP9 EXON Missense_R96W exm1165250 15 58471327 [A/G] NM_020980 AQP9 EXON Missense_V166M exm1165253 15 58471357 [A/G] NM_020980 AQP9 EXON Missense_V176I exm1165255 15 58471367 [T/C] NM_020980 AQP9 EXON Missense_I179T exm1165258 15 58471435 [A/G] NM_020980 AQP9 EXON Missense_V202I exm1835513 15 58476204 [T/C] NM_020980 AQP9 EXON Missense_V253A exm1835514 15 58476224 [T/C] NM_020980 AQP9 EXON Missense_L260F exm1165272 15 58476281 [A/G] NM_020980 AQP9 EXON Missense_T279A exm-rs4775031 15 58635583 [A/C] exm-rs4775041 15 58674695 [G/C] exm-rs10468017 15 58678512 [T/C] exm-rs2043085 15 58680954 [T/C] exm-rs1532085 15 58683366 [A/G] exm-rs493258 15 58687880 [T/C] exm-rs920915 15 58688467 [G/C] exm-rs1800588 15 58723675 [T/C] exm1165281 15 58724298 [T/C] NM_000236 LIPC EXON Missense_L23F exm-rs261334 15 58726744 [C/G] NM_000236 LIPC Silent exm-rs3825776 15 58746830 [T/C] NM_000236 LIPC Silent exm1165291 15 58830639 [A/G] NM_000236 LIPC EXON Missense_I66V exm1165296 15 58830716 [A/G] NM_000236 LIPC EXON Synonymous_S91S exm1165298 15 58833993 [A/G] NM_000236 LIPC EXON Missense_V95M exm1165309 15 58834122 [T/C] NM_000236 LIPC EXON Missense_R138C exm1165312 15 58834143 [A/G] NM_000236 LIPC EXON Missense_A145T exm1165318 15 58834749 [C/G] NM_000236 LIPC EXON Missense_S158C exm1165331 15 58837989 [A/G] NM_000236 LIPC EXON Missense_R208H exm1165332 15 58838010 [A/G] NM_000236 LIPC EXON Missense_N215S exm1165341 15 58840535 [T/C] NM_000236 LIPC EXON Missense_T272I exm1165343 15 58840562 [A/G] NM_000236 LIPC EXON Missense_R281Q exm1165357 15 58840744 [A/G] NM_000236 LIPC EXON Missense_V342I exm1165361 15 58853079 [A/C] NM_000236 LIPC EXON Missense_F356L exm1165365 15 58853140 [T/C] NM_000236 LIPC EXON Missense_L377F exm1165366 15 58853159 [T/C] NM_000236 LIPC EXON Missense_M383T exm1165375 15 58855748 [T/C] NM_000236 LIPC EXON Missense_T405M exm1165378 15 58855760 [A/C] NM_000236 LIPC EXON Missense_D409A exm1165387 15 58855862 [T/C] NM_000236 LIPC EXON Missense_P443L exm1165394 15 58860941 [T/A] NM_000236 LIPC EXON Missense_D472V exm1165398 15 58860956 [A/G] NM_000236 LIPC EXON Missense_R477H exm1165402 15 58889793 [T/G] NM_001110 ADAM10 EXON Missense_R734S exm2252222 15 58902667 [A/G] NM_001110 ADAM10 EXON Synonymous_H618H exm1835566 15 58936150 [T/C] NM_001110 ADAM10 EXON Missense_T255A exm1835574 15 58957313 [A/C] NM_001110 ADAM10 EXON Missense_V190L exm1165441 15 58957340 [T/C] NM_001110 ADAM10 EXON Missense_R181G exm1165442 15 58957354 [T/C] NM_001110 ADAM10 EXON Missense_H176R exm1165444 15 58957371 [G/C] NM_001110 ADAM10 EXON Missense_Q170H exm1165447 15 58971398 [T/C] NM_001110 ADAM10 EXON Missense_V137I exm1165463 15 59009800 [T/C] NM_001110 ADAM10 EXON Missense_R61H exm1165472 15 59063652 [A/G] NM_001040450,NM_001040453 FAM63B,FAM63B EXON Missense_A20T,Missense_A20T exm1165473 15 59063659 [A/G] NM_001040450,NM_001040453 FAM63B,FAM63B EXON Missense_G22E,Missense_G22E exm1165482 15 59063812 [G/C] NM_001040450,NM_001040453 FAM63B,FAM63B EXON Missense_P73R,Missense_P73R exm1165484 15 59063905 [A/G] NM_001040450,NM_001040453 FAM63B,FAM63B EXON Missense_G104E,Missense_G104E exm1165491 15 59063956 [A/C] NM_001040450,NM_001040453 FAM63B,FAM63B EXON Missense_H121P,Missense_H121P exm1165500 15 59064270 [A/G] NM_001040450,NM_001040453 FAM63B,FAM63B EXON Missense_T226A,Missense_T226A exm1165505 15 59064288 [G/C] NM_001040450,NM_001040453 FAM63B,FAM63B EXON Missense_A232P,Missense_A232P exm1165508 15 59064327 [A/G] NM_001040450,NM_001040453 FAM63B,FAM63B EXON Missense_I245V,Missense_I245V exm1165511 15 59064420 [T/C] NM_001040450,NM_001040453 FAM63B,FAM63B EXON Missense_L276F,Missense_L276F exm-rs474875 15 59086703 [T/G] NM_001040450,NM_001040453 FAM63B,FAM63B Silent,Silent exm1165522 15 59102450 [A/G] NM_001040450,NM_001040453 FAM63B,FAM63B EXON Missense_I329V,Missense_I329V exm1165523 15 59102517 [A/G] NM_001040450,NM_001040453 FAM63B,FAM63B EXON Missense_Y351C,Missense_Y351C exm1165536 15 59144018 [A/C] NM_001040450,NM_001040453 FAM63B,FAM63B EXON Missense_I531L,Missense_I531L exm1165544 15 59144148 [A/C] NM_001040450,NM_001040453 FAM63B,FAM63B EXON Missense_A574D,Missense_A574D exm1165549 15 59146726 [C/G] NM_001040450,NM_001040453 FAM63B,FAM63B EXON Missense_G595R,Missense_G594R exm1165559 15 59172276 [A/T] NM_024755,NM_001013843 SLTM,SLTM EXON Missense_Q1009H,Missense_Q991H exm-rs7179456 15 59174539 [T/G] NM_024755,NM_001013843 SLTM,SLTM Silent,Silent exm1165583 15 59179596 [T/C] NM_024755,NM_001013843 SLTM,SLTM EXON Missense_E840G,Missense_E822G exm1165606 15 59181712 [G/C] NM_024755,NM_001013843 SLTM,SLTM EXON Missense_E707D,Missense_E689D exm1165630 15 59189414 [A/C] NM_024755,NM_001013843 SLTM,SLTM EXON Missense_S376I,Missense_S358I exm1165636 15 59191017 [A/C] NM_024755,NM_001013843 SLTM,SLTM EXON Missense_S365A,Missense_S347A exm1165648 15 59191785 [A/C] NM_024755,NM_001013843 SLTM,SLTM EXON Missense_G314V,Missense_G296V exm1165652 15 59192023 [C/G] NM_024755,NM_001013843 SLTM,SLTM EXON Missense_V235L,Missense_V217L exm1165653 15 59192047 [T/C] NM_024755,NM_001013843 SLTM,SLTM EXON Missense_E227K,Missense_E209K exm1165661 15 59205822 [T/C] NM_024755,NM_001013843 SLTM,SLTM EXON Missense_G130D,Missense_G130D exm1165679 15 59323048 [C/G] NM_001270528,NM_001270529,NM_017610,NM_001270530 RNF111,RNF111,RNF111,RNF111 EXON Missense_N9K,Missense_N9K,Missense_N9K,Missense_N9K exm1835649 15 59323161 [A/G] NM_001270528,NM_001270529,NM_017610,NM_001270530 RNF111,RNF111,RNF111,RNF111 EXON Missense_K47R,Missense_K47R,Missense_K47R,Missense_K47R exm1165691 15 59323502 [A/G] NM_001270528,NM_001270529,NM_017610,NM_001270530 RNF111,RNF111,RNF111,RNF111 EXON Missense_V161I,Missense_V161I,Missense_V161I,Missense_V161I exm1165696 15 59323566 [A/G] NM_001270528,NM_001270529,NM_017610,NM_001270530 RNF111,RNF111,RNF111,RNF111 EXON Missense_H182R,Missense_H182R,Missense_H182R,Missense_H182R exm1165698 15 59323592 [T/G] NM_001270528,NM_001270529,NM_017610,NM_001270530 RNF111,RNF111,RNF111,RNF111 EXON Missense_S191A,Missense_S191A,Missense_S191A,Missense_S191A exm1165700 15 59323643 [T/C] NM_001270528,NM_001270529,NM_017610,NM_001270530 RNF111,RNF111,RNF111,RNF111 EXON Missense_R208W,Missense_R208W,Missense_R208W,Missense_R208W exm1165705 15 59323782 [A/G] NM_001270528,NM_001270529,NM_017610,NM_001270530 RNF111,RNF111,RNF111,RNF111 EXON Missense_S254N,Missense_S254N,Missense_S254N,Missense_S254N exm1165707 15 59323865 [A/C] NM_001270528,NM_001270529,NM_017610,NM_001270530 RNF111,RNF111,RNF111,RNF111 EXON Missense_S282R,Missense_S282R,Missense_S282R,Missense_S282R exm1165710 15 59344511 [T/G] NM_001270528,NM_001270529,NM_017610,NM_001270530 RNF111,RNF111,RNF111,RNF111 EXON Missense_I296M,Missense_I296M,Missense_I296M,Missense_I296M exm2264562 15 59347929 [A/C] NM_001270528,NM_001270529,NM_017610,NM_001270530 RNF111,RNF111,RNF111,RNF111 EXON Synonymous_S352S,Synonymous_S352S,Synonymous_S352S,Synonymous_S352S exm1835658 15 59347945 [A/C] NM_001270528,NM_001270529,NM_017610,NM_001270530 RNF111,RNF111,RNF111,RNF111 EXON Synonymous_R358R,Synonymous_R358R,Synonymous_R358R,Synonymous_R358R exm1165725 15 59347970 [A/G] NM_001270528,NM_001270529,NM_017610,NM_001270530 RNF111,RNF111,RNF111,RNF111 EXON Missense_S366N,Missense_S366N,Missense_S366N,Missense_S366N exm1165733 15 59350686 [A/T] NM_001270528,NM_001270529,NM_017610,NM_001270530 RNF111,RNF111,RNF111,RNF111 EXON Missense_S435T,Missense_S435T,Missense_S435T,Missense_S435T exm1165736 15 59358989 [T/G] NM_001270528,NM_001270529,NM_017610,NM_001270530 RNF111,RNF111,RNF111,RNF111 EXON Missense_A465S,Missense_A465S,Missense_A465S,Missense_A465S exm1165737 15 59358996 [T/C] NM_001270528,NM_001270529,NM_017610,NM_001270530 RNF111,RNF111,RNF111,RNF111 EXON Missense_T467M,Missense_T467M,Missense_T467M,Missense_T467M exm1165741 15 59359079 [A/C] NM_001270528,NM_001270529,NM_017610,NM_001270530 RNF111,RNF111,RNF111,RNF111 EXON Missense_H495N,Missense_H495N,Missense_H495N,Missense_H495N exm1165777 15 59373381 [T/C] NM_001270528,NM_001270529,NM_017610,NM_001270530 RNF111,RNF111,RNF111,RNF111 EXON Missense_S732L,Missense_S731L,Missense_S732L,Missense_S732L exm1165790 15 59377940 [T/C] NM_001270528,NM_001270529,NM_017610,NM_001270530 RNF111,RNF111,RNF111,RNF111 EXON Missense_P845S,Missense_P835S,Missense_P836S,Missense_P836S exm1165795 15 59383289 [A/G] NM_001270528,NM_001270529,NM_017610,NM_001270530 RNF111,RNF111,RNF111,RNF111 EXON Missense_N901S,Missense_N891S,Missense_N892S,Missense_N892S exm1165817 15 59399630 [A/G] NM_004701 CCNB2 EXON Missense_R45K exm1165818 15 59399632 [A/G] NM_004701 CCNB2 EXON Missense_A46T exm1165819 15 59399759 [A/G] NM_004701 CCNB2 EXON Missense_A53T exm1165824 15 59399803 [A/T] NM_004701 CCNB2 EXON Missense_N67K exm1165829 15 59399869 [A/G] NM_004701 CCNB2 EXON Synonymous_K89K exm1165831 15 59406674 [T/C] NM_004701 CCNB2 EXON Missense_M100T exm2252225 15 59406777 [T/C] NM_004701 CCNB2 EXON Synonymous_Y134Y exm1165837 15 59406778 [A/G] NM_004701 CCNB2 EXON Missense_V135I exm1165838 15 59406791 [A/G] NM_004701 CCNB2 EXON Missense_Y139C exm1165840 15 59406921 [T/C] NM_004701 CCNB2 EXON Missense_L148S exm1165843 15 59406959 [A/G] NM_004701 CCNB2 EXON Missense_I161V exm1165845 15 59406968 [T/C] NM_004701 CCNB2 EXON Missense_R164C exm1165847 15 59406999 [T/G] NM_004701 CCNB2 EXON Missense_V174G exm2252226 15 59408990 [T/C] NM_004701 CCNB2 EXON Synonymous_F233F exm1835703 15 59409494 [T/G] NM_004701 CCNB2 EXON Missense_V301G exm1165890 15 59430501 [T/G] NM_004998 MYO1E EXON Missense_P1049H exm1165907 15 59445894 [A/G] NM_004998 MYO1E EXON Missense_M992T exm1165927 15 59455399 [T/C] NM_004998 MYO1E EXON Missense_E862K exm1165934 15 59464117 [T/C] NM_004998 MYO1E EXON Missense_R820Q exm1165936 15 59464193 [T/C] NM_004998 MYO1E EXON Missense_G795R exm1165968 15 59487752 [G/C] NM_004998 MYO1E EXON Missense_D571E exm1165973 15 59494583 [A/G] NM_004998 MYO1E EXON Missense_P547L exm1165980 15 59497600 [T/G] NM_004998 MYO1E EXON Missense_L539M exm1165982 15 59497622 [G/C] NM_004998 MYO1E EXON Missense_I531M exm1165989 15 59499179 [A/G] NM_004998,NM_033195 MYO1E,LDHAL6B EXON Silent,Missense_V14M exm1165991 15 59499228 [T/C] NM_004998,NM_033195 MYO1E,LDHAL6B EXON Silent,Missense_P30L exm1165998 15 59499305 [A/G] NM_004998,NM_033195 MYO1E,LDHAL6B EXON Silent,Missense_E56K exm1165999 15 59499334 [C/G] NM_004998,NM_033195 MYO1E,LDHAL6B EXON Silent,Missense_K65N exm1166013 15 59499575 [A/G] NM_004998,NM_033195 MYO1E,LDHAL6B EXON Silent,Missense_G146S exm1166029 15 59499756 [A/G] NM_004998,NM_033195 MYO1E,LDHAL6B EXON Silent,Missense_R206H exm1166030 15 59499797 [T/C] NM_004998,NM_033195 MYO1E,LDHAL6B EXON Silent,Missense_R220C exm1166036 15 59499959 [A/G] NM_004998,NM_033195 MYO1E,LDHAL6B EXON Silent,Missense_E274K exm1166053 15 59500181 [A/G] NM_004998,NM_033195 MYO1E,LDHAL6B EXON Silent,Missense_G348S exm1166055 15 59500193 [T/C] NM_004998,NM_033195 MYO1E,LDHAL6B EXON Silent,Missense_L352F exm1166069 15 59500944 [A/G] NM_004998 MYO1E EXON Missense_I489T exm1166082 15 59506876 [A/G] NM_004998 MYO1E EXON Missense_I384T exm1166084 15 59506892 [C/G] NM_004998 MYO1E EXON Missense_H379D exm1166092 15 59510221 [A/G] NM_004998 MYO1E EXON Missense_R326W exm1166093 15 59510275 [T/G] NM_004998 MYO1E EXON Missense_P308T exm1166102 15 59515390 [C/G] NM_004998 MYO1E EXON Missense_H260D exm2267775 15 59515767 [A/G] NM_004998 MYO1E Silent exm1166118 15 59519746 [T/C] NM_004998 MYO1E EXON Missense_D185G exm2260451 15 59614841 [T/C] NM_004998 MYO1E Silent exm1166168 15 59799516 [T/C] NM_152450 FAM81A EXON Missense_T173M exm1166172 15 59806496 [T/G] NM_152450 FAM81A EXON Missense_G220V exm1166173 15 59806535 [A/G] NM_152450 FAM81A EXON Missense_R233Q exm1166183 15 59813464 [A/G] NM_152450 FAM81A EXON Missense_V332I exm1166187 15 59910440 [A/G] NM_004751 GCNT3 EXON Missense_M1I exm1166202 15 59910672 [A/G] NM_004751 GCNT3 EXON Missense_E79K exm1166215 15 59910888 [T/C] NM_004751 GCNT3 EXON Nonsense_R151X exm2276384 15 59911018 [A/G] NM_004751 GCNT3 EXON Missense_R194Q exm1166239 15 59911215 [G/C] NM_004751 GCNT3 EXON Missense_H260D exm1166240 15 59911217 [G/C] NM_004751 GCNT3 EXON Missense_H260Q exm2223580 15 59911218 [A/C] NM_004751 GCNT3 EXON Missense_K261Q exm1166241 15 59911225 [C/G] NM_004751 GCNT3 EXON Missense_T263S exm1166242 15 59911227 [T/C] NM_004751 GCNT3 EXON Missense_R264C exm1166264 15 59911536 [T/C] NM_004751 GCNT3 EXON Nonsense_Q367X exm2276385 15 59911556 [C/G] NM_004751 GCNT3 EXON Missense_I373M exm1835838 15 59911556 [T/C] NM_004751 GCNT3 EXON Synonymous_I373I exm1166266 15 59911599 [T/C] NM_004751 GCNT3 EXON Missense_R388W exm1166270 15 59911611 [A/G] NM_004751 GCNT3 EXON Missense_V392I exm1166272 15 59911666 [A/G] NM_004751 GCNT3 EXON Missense_N410S exm1166302 15 59961125 [T/C] NM_004330 BNIP2 EXON Missense_M408V exm1166309 15 59961478 [A/G] NM_004330 BNIP2 EXON Missense_I385T exm1166327 15 59970164 [A/G] NM_004330 BNIP2 EXON Missense_H261Y exm1166331 15 59970197 [A/G] NM_004330 BNIP2 EXON Missense_R250C exm1166335 15 59971823 [A/G] NM_004330 BNIP2 EXON Missense_P209L exm1166336 15 59971827 [T/A] NM_004330 BNIP2 EXON Missense_T208S exm1166344 15 59971946 [T/C] NM_004330 BNIP2 EXON Missense_N168S exm1166350 15 59972487 [C/G] NM_004330 BNIP2 EXON Missense_S145T exm1166356 15 59974691 [A/T] NM_004330 BNIP2 EXON Missense_Q110L exm1166362 15 59981515 [A/G] NM_004330 BNIP2 EXON Missense_V42A exm1166364 15 59981590 [A/G] NM_004330 BNIP2 EXON Missense_P17L exm2272250 15 60145962 [T/C] exm1166374 15 60297284 [A/G] NM_012182 FOXB1 EXON Missense_K41R exm1835877 15 60297656 [T/G] NM_012182 FOXB1 EXON Missense_G165V exm1166399 15 60297913 [T/G] NM_012182 FOXB1 EXON Missense_A251S exm2252229 15 60363768 [T/C] exm-rs4775261 15 60630902 [T/G] exm1166411 15 60639860 [A/G] NM_001002858,NM_001136015,NM_004039,NM_001002857 ANXA2,ANXA2,ANXA2,ANXA2 EXON Missense_A348V,Missense_A330V,Missense_A330V,Missense_A330V exm1166417 15 60641300 [T/C] NM_001002858,NM_001136015,NM_004039,NM_001002857 ANXA2,ANXA2,ANXA2,ANXA2 EXON Missense_G330S,Missense_G312S,Missense_G312S,Missense_G312S exm1166420 15 60641378 [T/C] NM_001002858,NM_001136015,NM_004039,NM_001002857 ANXA2,ANXA2,ANXA2,ANXA2 EXON Missense_K304E,Missense_K286E,Missense_K286E,Missense_K286E exm1166436 15 60646409 [T/C] NM_001002858,NM_001136015,NM_004039,NM_001002857 ANXA2,ANXA2,ANXA2,ANXA2 EXON Missense_R196G,Missense_R178G,Missense_R178G,Missense_R178G exm1166453 15 60653228 [A/G] NM_001002858,NM_001136015,NM_004039,NM_001002857 ANXA2,ANXA2,ANXA2,ANXA2 EXON Missense_A108V,Missense_A90V,Missense_A90V,Missense_A90V exm1166479 15 60715955 [T/C] NM_001018089,NM_024611 NARG2,NARG2 EXON Missense_G806R,Missense_G943R exm1166489 15 60720819 [A/C] NM_001018089,NM_024611 NARG2,NARG2 EXON Missense_S740A,Missense_S877A exm1166492 15 60724151 [A/G] NM_001018089,NM_024611 NARG2,NARG2 EXON Missense_I711T,Missense_I848T exm1166495 15 60728342 [T/C] NM_001018089,NM_024611 NARG2,NARG2 EXON Missense_K700R,Missense_K837R exm1835940 15 60741233 [A/C] NM_001018089,NM_024611 NARG2,NARG2 EXON Missense_V508F,Missense_V645F exm1166523 15 60741467 [T/C] NM_001018089,NM_024611 NARG2,NARG2 EXON Missense_V430I,Missense_V567I exm1166528 15 60741703 [T/C] NM_001018089,NM_024611 NARG2,NARG2 EXON Missense_G351E,Missense_G488E exm1166536 15 60741931 [T/C] NM_001018089,NM_024611 NARG2,NARG2 EXON Missense_K275R,Missense_K412R exm1166539 15 60742031 [T/C] NM_001018089,NM_024611 NARG2,NARG2 EXON Missense_E242K,Missense_E379K exm2275244 15 60745802 [G/C] NM_001018089,NM_024611,NM_001276385 NARG2,NARG2,NARG2 EXON Missense_D238E,Missense_D375E,Missense_D375E exm1166556 15 60747544 [A/G] NM_001018089,NM_024611,NM_001276385 NARG2,NARG2,NARG2 EXON Missense_T118I,Missense_T255I,Missense_T255I exm1166557 15 60747546 [T/A] NM_001018089,NM_024611,NM_001276385 NARG2,NARG2,NARG2 EXON Missense_Q117H,Missense_Q254H,Missense_Q254H exm1166561 15 60747602 [A/G] NM_001018089,NM_024611,NM_001276385 NARG2,NARG2,NARG2 EXON Missense_P99S,Missense_P236S,Missense_P236S exm1166578 15 60758905 [T/C] NM_001018089,NM_024611,NM_001276385 NARG2,NARG2,NARG2 EXON Missense_K2R,Missense_K139R,Missense_K139R exm-rs3743266 15 60781513 [T/C] NM_134262,NM_002943,NM_134261,NM_134260 RORA,RORA,RORA,RORA EXON Silent,Silent,Silent,Silent exm1166608 15 60789800 [T/C] NM_134262,NM_002943,NM_134261,NM_134260 RORA,RORA,RORA,RORA EXON Missense_T421A,Missense_T501A,Missense_T476A,Missense_T509A exm1166631 15 60803593 [T/C] NM_134262,NM_002943,NM_134261,NM_134260 RORA,RORA,RORA,RORA EXON Missense_V163I,Missense_V243I,Missense_V218I,Missense_V251I exm1166659 15 60849114 [T/C] NM_134262,NM_002943,NM_134261,NM_134260 RORA,RORA,RORA,RORA EXON Silent,Silent,Silent,Missense_Q78R exm2260452 15 60855555 [T/C] NM_134262,NM_002943,NM_134261,NM_134260 RORA,RORA,RORA,RORA Silent,Silent,Silent,Silent exm1166666 15 60884594 [T/G] NM_134262,NM_002943,NM_134261,NM_134260 RORA,RORA,RORA,RORA EXON Missense_A8E,Silent,Silent,Silent exm-rs340029 15 60894965 [T/C] NM_002943,NM_134261,NM_134260 RORA,RORA,RORA Silent,Silent,Silent exm-rs3784609 15 60910550 [T/C] NM_002943,NM_134261,NM_134260 RORA,RORA,RORA Silent,Silent,Silent exm2252230 15 61020808 [T/G] NM_134261 RORA Silent exm-rs12912233 15 61267096 [T/C] NM_134261 RORA Silent exm-rs809736 15 61329788 [A/G] NM_134261 RORA Silent exm-rs4270116 15 61704441 [A/G] exm2272254 15 61987998 [T/C] exm2267838 15 62106862 [A/G] exm1166699 15 62147087 [A/C] NM_017684,NM_020821 VPS13C,VPS13C EXON Missense_D3672Y,Missense_D3715Y exm1166701 15 62147116 [T/C] NM_017684,NM_020821 VPS13C,VPS13C EXON Missense_Q3662R,Missense_Q3705R exm1166704 15 62148606 [T/C] NM_017684,NM_020821 VPS13C,VPS13C EXON Missense_R3609Q,Missense_R3652Q exm1166705 15 62148607 [A/G] NM_017684,NM_020821 VPS13C,VPS13C EXON Nonsense_R3609X,Nonsense_R3652X exm1166709 15 62160874 [T/C] NM_017684,NM_020821,NM_018080,NM_001018088 VPS13C,VPS13C,VPS13C,VPS13C EXON Missense_G3573D,Missense_G3616D,Missense_G3573D,Missense_G3616D exm1166710 15 62160901 [T/C] NM_017684,NM_020821,NM_018080,NM_001018088 VPS13C,VPS13C,VPS13C,VPS13C EXON Missense_R3564H,Missense_R3607H,Missense_R3564H,Missense_R3607H exm1166711 15 62160902 [A/G] NM_017684,NM_020821,NM_018080,NM_001018088 VPS13C,VPS13C,VPS13C,VPS13C EXON Missense_R3564C,Missense_R3607C,Missense_R3564C,Missense_R3607C exm1166720 15 62161753 [T/C] NM_017684,NM_020821,NM_018080,NM_001018088 VPS13C,VPS13C,VPS13C,VPS13C EXON Missense_R3522H,Missense_R3565H,Missense_R3522H,Missense_R3565H exm1166730 15 62165576 [A/C] NM_017684,NM_020821,NM_018080,NM_001018088 VPS13C,VPS13C,VPS13C,VPS13C EXON Missense_G3440C,Missense_G3483C,Missense_G3440C,Missense_G3483C exm1166737 15 62167076 [T/C] NM_017684,NM_020821,NM_018080,NM_001018088 VPS13C,VPS13C,VPS13C,VPS13C EXON Synonymous_V3428V,Synonymous_V3471V,Synonymous_V3428V,Synonymous_V3471V exm1166772 15 62174812 [T/C] NM_017684,NM_020821,NM_018080,NM_001018088 VPS13C,VPS13C,VPS13C,VPS13C EXON Missense_R3160G,Missense_R3203G,Missense_R3160G,Missense_R3203G exm1166788 15 62182599 [T/C] NM_017684,NM_020821,NM_018080,NM_001018088 VPS13C,VPS13C,VPS13C,VPS13C EXON Missense_D2993N,Missense_D3036N,Missense_D2993N,Missense_D3036N exm1166789 15 62199488 [T/C] NM_017684,NM_020821,NM_018080,NM_001018088 VPS13C,VPS13C,VPS13C,VPS13C EXON Missense_N2984S,Missense_N3027S,Missense_N2984S,Missense_N3027S exm1166792 15 62199534 [A/C] NM_017684,NM_020821,NM_018080,NM_001018088 VPS13C,VPS13C,VPS13C,VPS13C EXON Missense_A2969S,Missense_A3012S,Missense_A2969S,Missense_A3012S exm1166795 15 62199587 [A/C] NM_017684,NM_020821,NM_018080,NM_001018088 VPS13C,VPS13C,VPS13C,VPS13C EXON Missense_G2951V,Missense_G2994V,Missense_G2951V,Missense_G2994V exm1166796 15 62199588 [A/C] NM_017684,NM_020821,NM_018080,NM_001018088 VPS13C,VPS13C,VPS13C,VPS13C EXON Missense_G2951W,Missense_G2994W,Missense_G2951W,Missense_G2994W exm1166805 15 62202482 [T/C] NM_017684,NM_020821,NM_018080,NM_001018088 VPS13C,VPS13C,VPS13C,VPS13C EXON Missense_S2870N,Missense_S2913N,Missense_S2870N,Missense_S2913N exm1166808 15 62204043 [A/G] NM_017684,NM_020821,NM_018080,NM_001018088 VPS13C,VPS13C,VPS13C,VPS13C EXON Missense_S2861L,Missense_S2904L,Missense_S2861L,Missense_S2904L exm1166816 15 62204163 [T/C] NM_017684,NM_020821,NM_018080,NM_001018088 VPS13C,VPS13C,VPS13C,VPS13C EXON Missense_R2821Q,Missense_R2864Q,Missense_R2821Q,Missense_R2864Q exm1166824 15 62207854 [T/C] NM_017684,NM_020821,NM_018080,NM_001018088 VPS13C,VPS13C,VPS13C,VPS13C EXON Missense_K2765R,Missense_K2808R,Missense_K2765R,Missense_K2808R exm1166832 15 62207911 [A/G] NM_017684,NM_020821,NM_018080,NM_001018088 VPS13C,VPS13C,VPS13C,VPS13C EXON Missense_I2746T,Missense_I2789T,Missense_I2746T,Missense_I2789T exm1166833 15 62207924 [A/G] NM_017684,NM_020821,NM_018080,NM_001018088 VPS13C,VPS13C,VPS13C,VPS13C EXON Missense_R2742C,Missense_R2785C,Missense_R2742C,Missense_R2785C exm1166843 15 62208089 [A/G] NM_017684,NM_020821,NM_018080,NM_001018088 VPS13C,VPS13C,VPS13C,VPS13C EXON Missense_R2687C,Missense_R2730C,Missense_R2687C,Missense_R2730C exm1836069 15 62209734 [T/C] NM_017684,NM_020821,NM_018080,NM_001018088 VPS13C,VPS13C,VPS13C,VPS13C EXON Missense_V2578I,Missense_V2621I,Missense_V2578I,Missense_V2621I exm1166865 15 62210407 [T/C] NM_017684,NM_020821,NM_018080,NM_001018088 VPS13C,VPS13C,VPS13C,VPS13C EXON Missense_N2520S,Missense_N2563S,Missense_N2520S,Missense_N2563S exm1166876 15 62212298 [T/C] NM_017684,NM_020821,NM_018080,NM_001018088 VPS13C,VPS13C,VPS13C,VPS13C EXON Missense_R2439H,Missense_R2482H,Missense_R2439H,Missense_R2482H exm1166884 15 62212467 [T/C] NM_017684,NM_020821,NM_018080,NM_001018088 VPS13C,VPS13C,VPS13C,VPS13C EXON Missense_V2383I,Missense_V2426I,Missense_V2383I,Missense_V2426I exm1166887 15 62212480 [T/A] NM_017684,NM_020821,NM_018080,NM_001018088 VPS13C,VPS13C,VPS13C,VPS13C EXON Missense_R2378S,Missense_R2421S,Missense_R2378S,Missense_R2421S exm1166893 15 62212770 [T/C] NM_017684,NM_020821,NM_018080,NM_001018088 VPS13C,VPS13C,VPS13C,VPS13C EXON Missense_H2337R,Missense_H2380R,Missense_H2337R,Missense_H2380R exm1166899 15 62214607 [T/C] NM_017684,NM_020821,NM_018080,NM_001018088 VPS13C,VPS13C,VPS13C,VPS13C EXON Missense_V2279M,Missense_V2322M,Missense_V2279M,Missense_V2322M exm1166905 15 62214726 [A/G] NM_017684,NM_020821,NM_018080,NM_001018088 VPS13C,VPS13C,VPS13C,VPS13C EXON Missense_S2239F,Missense_S2282F,Missense_S2239F,Missense_S2282F exm1166907 15 62214756 [A/G] NM_017684,NM_020821,NM_018080,NM_001018088 VPS13C,VPS13C,VPS13C,VPS13C EXON Missense_I2229T,Missense_I2272T,Missense_I2229T,Missense_I2272T exm1166913 15 62214960 [A/T] NM_017684,NM_020821,NM_018080,NM_001018088 VPS13C,VPS13C,VPS13C,VPS13C EXON Missense_I2161N,Missense_I2204N,Missense_I2161N,Missense_I2204N exm1166922 15 62219337 [A/G] NM_017684,NM_020821,NM_018080,NM_001018088 VPS13C,VPS13C,VPS13C,VPS13C EXON Missense_L2114F,Missense_L2157F,Missense_L2114F,Missense_L2157F exm1836102 15 62221745 [A/T] NM_017684,NM_020821,NM_018080,NM_001018088 VPS13C,VPS13C,VPS13C,VPS13C EXON Missense_I2038F,Missense_I2081F,Missense_I2038F,Missense_I2081F exm2274756 15 62221858 [C/G] NM_017684,NM_020821,NM_018080,NM_001018088 VPS13C,VPS13C,VPS13C,VPS13C EXON Missense_A2000G,Missense_A2043G,Missense_A2000G,Missense_A2043G exm1166947 15 62226423 [T/G] NM_017684,NM_020821,NM_018080,NM_001018088 VPS13C,VPS13C,VPS13C,VPS13C EXON Missense_N1912H,Missense_N1955H,Missense_N1912H,Missense_N1955H exm1166949 15 62228825 [A/T] NM_017684,NM_020821,NM_018080,NM_001018088 VPS13C,VPS13C,VPS13C,VPS13C EXON Missense_D1866V,Missense_D1909V,Missense_D1866V,Missense_D1909V exm1166954 15 62228915 [A/C] NM_017684,NM_020821,NM_018080,NM_001018088 VPS13C,VPS13C,VPS13C,VPS13C EXON Missense_M1836R,Missense_M1879R,Missense_M1836R,Missense_M1879R exm1166957 15 62232850 [A/G] NM_017684,NM_020821,NM_018080,NM_001018088 VPS13C,VPS13C,VPS13C,VPS13C EXON Missense_M1823T,Missense_M1866T,Missense_M1823T,Missense_M1866T exm1836118 15 62232925 [A/G] NM_017684,NM_020821,NM_018080,NM_001018088 VPS13C,VPS13C,VPS13C,VPS13C EXON Missense_S1798F,Missense_S1841F,Missense_S1798F,Missense_S1841F exm1166962 15 62234005 [T/C] NM_017684,NM_020821,NM_018080,NM_001018088 VPS13C,VPS13C,VPS13C,VPS13C EXON Missense_I1761V,Missense_I1804V,Missense_I1761V,Missense_I1804V exm2223592 15 62234166 [T/C] NM_017684,NM_020821,NM_018080,NM_001018088 VPS13C,VPS13C,VPS13C,VPS13C EXON Missense_K1707R,Missense_K1750R,Missense_K1707R,Missense_K1750R exm1166971 15 62234169 [A/T] NM_017684,NM_020821,NM_018080,NM_001018088 VPS13C,VPS13C,VPS13C,VPS13C EXON Missense_Q1706L,Missense_Q1749L,Missense_Q1706L,Missense_Q1749L exm1166978 15 62238002 [A/G] NM_017684,NM_020821,NM_018080,NM_001018088 VPS13C,VPS13C,VPS13C,VPS13C EXON Missense_A1644V,Missense_A1687V,Missense_A1644V,Missense_A1687V exm2223593 15 62243185 [T/C] NM_017684,NM_020821,NM_018080,NM_001018088 VPS13C,VPS13C,VPS13C,VPS13C EXON Missense_N1456D,Missense_N1499D,Missense_N1456D,Missense_N1499D exm1167002 15 62243197 [T/C] NM_017684,NM_020821,NM_018080,NM_001018088 VPS13C,VPS13C,VPS13C,VPS13C EXON Missense_I1452V,Missense_I1495V,Missense_I1452V,Missense_I1495V exm1167005 15 62244026 [T/C] NM_017684,NM_020821,NM_018080,NM_001018088 VPS13C,VPS13C,VPS13C,VPS13C EXON Missense_T1442A,Missense_T1485A,Missense_T1442A,Missense_T1485A exm1167014 15 62246670 [T/G] NM_017684,NM_020821,NM_018080,NM_001018088 VPS13C,VPS13C,VPS13C,VPS13C EXON Missense_I1374L,Missense_I1417L,Missense_I1374L,Missense_I1417L exm1167024 15 62253791 [T/C] NM_017684,NM_020821,NM_018080,NM_001018088 VPS13C,VPS13C,VPS13C,VPS13C EXON Missense_Y1259C,Missense_Y1302C,Missense_Y1259C,Missense_Y1302C exm1167030 15 62253953 [A/G] NM_017684,NM_020821,NM_018080,NM_001018088 VPS13C,VPS13C,VPS13C,VPS13C EXON Missense_P1205L,Missense_P1248L,Missense_P1205L,Missense_P1248L exm1167031 15 62253987 [A/C] NM_017684,NM_020821,NM_018080,NM_001018088 VPS13C,VPS13C,VPS13C,VPS13C EXON Missense_F1194V,Missense_F1237V,Missense_F1194V,Missense_F1237V exm1167038 15 62254589 [T/G] NM_017684,NM_020821,NM_018080,NM_001018088 VPS13C,VPS13C,VPS13C,VPS13C EXON Missense_K1152T,Missense_K1195T,Missense_K1152T,Missense_K1195T exm1167042 15 62254658 [A/G] NM_017684,NM_020821,NM_018080,NM_001018088 VPS13C,VPS13C,VPS13C,VPS13C EXON Missense_T1129I,Missense_T1172I,Missense_T1129I,Missense_T1172I exm1167048 15 62254989 [T/C] NM_017684,NM_020821,NM_018080,NM_001018088 VPS13C,VPS13C,VPS13C,VPS13C EXON Missense_I1089V,Missense_I1132V,Missense_I1089V,Missense_I1132V exm1167053 15 62256103 [T/C] NM_017684,NM_020821,NM_018080,NM_001018088 VPS13C,VPS13C,VPS13C,VPS13C EXON Missense_A1045T,Missense_A1088T,Missense_A1045T,Missense_A1088T exm2274757 15 62256948 [T/G] NM_017684,NM_020821,NM_018080,NM_001018088 VPS13C,VPS13C,VPS13C,VPS13C EXON Missense_E1012A,Missense_E1055A,Missense_E1012A,Missense_E1055A exm1167061 15 62258287 [T/C] NM_017684,NM_020821,NM_018080,NM_001018088 VPS13C,VPS13C,VPS13C,VPS13C EXON Missense_V973I,Missense_V1016I,Missense_V973I,Missense_V1016I exm1167070 15 62259637 [T/C] NM_017684,NM_020821,NM_018080,NM_001018088 VPS13C,VPS13C,VPS13C,VPS13C EXON Missense_R931K,Missense_R974K,Missense_R931K,Missense_R974K exm1167073 15 62261612 [T/C] NM_017684,NM_020821,NM_018080,NM_001018088 VPS13C,VPS13C,VPS13C,VPS13C EXON Missense_T890A,Missense_T933A,Missense_T890A,Missense_T933A exm1836169 15 62269289 [T/G] NM_017684,NM_020821,NM_018080,NM_001018088 VPS13C,VPS13C,VPS13C,VPS13C EXON Missense_R757S,Missense_R800S,Missense_R757S,Missense_R800S exm1167088 15 62269312 [T/C] NM_017684,NM_020821,NM_018080,NM_001018088 VPS13C,VPS13C,VPS13C,VPS13C EXON Missense_A750T,Missense_A793T,Missense_A750T,Missense_A793T exm1167090 15 62269392 [T/G] NM_017684,NM_020821,NM_018080,NM_001018088 VPS13C,VPS13C,VPS13C,VPS13C EXON Missense_T723N,Missense_T766N,Missense_T723N,Missense_T766N exm1167093 15 62270845 [T/C] NM_017684,NM_020821,NM_018080,NM_001018088 VPS13C,VPS13C,VPS13C,VPS13C EXON Missense_Q714R,Missense_Q757R,Missense_Q714R,Missense_Q757R exm1167115 15 62276135 [T/C] NM_017684,NM_020821,NM_018080,NM_001018088 VPS13C,VPS13C,VPS13C,VPS13C EXON Missense_I557V,Missense_I600V,Missense_I557V,Missense_I600V exm1167117 15 62276168 [A/G] NM_017684,NM_020821,NM_018080,NM_001018088 VPS13C,VPS13C,VPS13C,VPS13C EXON Nonsense_Q546X,Nonsense_Q589X,Nonsense_Q546X,Nonsense_Q589X exm1167121 15 62277084 [T/A] NM_017684,NM_020821,NM_018080,NM_001018088 VPS13C,VPS13C,VPS13C,VPS13C EXON Missense_S522T,Missense_S565T,Missense_S522T,Missense_S565T exm1167125 15 62277152 [A/G] NM_017684,NM_020821,NM_018080,NM_001018088 VPS13C,VPS13C,VPS13C,VPS13C EXON Missense_T499M,Missense_T542M,Missense_T499M,Missense_T542M exm1167129 15 62277179 [T/G] NM_017684,NM_020821,NM_018080,NM_001018088 VPS13C,VPS13C,VPS13C,VPS13C EXON Missense_T490N,Missense_T533N,Missense_T490N,Missense_T533N exm1167134 15 62283295 [T/C] NM_017684,NM_020821,NM_018080,NM_001018088 VPS13C,VPS13C,VPS13C,VPS13C Silent,Silent,Silent,Silent exm1167135 15 62283887 [A/G] NM_017684,NM_020821,NM_018080,NM_001018088 VPS13C,VPS13C,VPS13C,VPS13C EXON Missense_S447P,Missense_S490P,Missense_S447P,Missense_S490P exm1167156 15 62300870 [T/C] NM_017684,NM_020821,NM_018080,NM_001018088 VPS13C,VPS13C,VPS13C,VPS13C EXON Missense_T325A,Missense_T368A,Missense_T325A,Missense_T368A exm1167158 15 62300929 [A/G] NM_017684,NM_020821,NM_018080,NM_001018088 VPS13C,VPS13C,VPS13C,VPS13C EXON Missense_V305A,Missense_V348A,Missense_V305A,Missense_V348A exm1836199 15 62302765 [T/C] NM_017684,NM_020821,NM_018080,NM_001018088 VPS13C,VPS13C,VPS13C,VPS13C EXON Missense_Y263C,Missense_Y306C,Missense_Y263C,Missense_Y306C exm1167170 15 62304323 [T/G] NM_017684,NM_020821,NM_018080,NM_001018088 VPS13C,VPS13C,VPS13C,VPS13C EXON Missense_P246H,Missense_P289H,Missense_P246H,Missense_P289H exm1836206 15 62305254 [A/G] NM_017684,NM_020821,NM_018080,NM_001018088 VPS13C,VPS13C,VPS13C,VPS13C EXON Missense_S227L,Missense_S270L,Missense_S227L,Missense_S270L exm1167185 15 62315982 [T/C] NM_017684,NM_020821,NM_018080,NM_001018088 VPS13C,VPS13C,VPS13C,VPS13C EXON Silent,Missense_K171E,Silent,Missense_K171E exm1167186 15 62315987 [T/C] NM_017684,NM_020821,NM_018080,NM_001018088 VPS13C,VPS13C,VPS13C,VPS13C EXON Silent,Missense_R169H,Silent,Missense_R169H exm1167189 15 62316035 [T/C] NM_017684,NM_020821,NM_018080,NM_001018088 VPS13C,VPS13C,VPS13C,VPS13C EXON Silent,Missense_R153H,Silent,Missense_R153H exm1836222 15 62316036 [A/G] NM_017684,NM_020821,NM_018080,NM_001018088 VPS13C,VPS13C,VPS13C,VPS13C EXON Silent,Missense_R153C,Silent,Missense_R153C exm1167199 15 62320618 [A/G] NM_017684,NM_020821,NM_018080,NM_001018088 VPS13C,VPS13C,VPS13C,VPS13C EXON Silent,Synonymous_G129G,Silent,Synonymous_G129G exm1167208 15 62327197 [A/G] NM_017684,NM_020821,NM_018080,NM_001018088 VPS13C,VPS13C,VPS13C,VPS13C EXON Missense_A81V,Missense_A81V,Missense_A81V,Missense_A81V exm1167209 15 62327201 [A/C] NM_017684,NM_020821,NM_018080,NM_001018088 VPS13C,VPS13C,VPS13C,VPS13C EXON Missense_V80F,Missense_V80F,Missense_V80F,Missense_V80F exm-rs17271305 15 62332980 [A/G] NM_017684,NM_020821,NM_018080,NM_001018088 VPS13C,VPS13C,VPS13C,VPS13C Silent,Silent,Silent,Silent exm1167221 15 62359862 [T/G] NM_207322 C2CD4A EXON Missense_S17I exm1167222 15 62359864 [G/C] NM_207322 C2CD4A EXON Missense_G18R exm1167224 15 62359876 [T/C] NM_207322 C2CD4A EXON Missense_L22F exm1836236 15 62360042 [A/G] NM_207322 C2CD4A EXON Missense_G77D exm-rs7178424 15 62380259 [T/C] exm-rs4502156 15 62383155 [T/C] exm-rs7172432 15 62396389 [A/G] exm-rs1436955 15 62404382 [T/C] exm-rs11071657 15 62433962 [A/G] exm2267776 15 62489412 [A/G] exm2252235 15 62864393 [A/C] exm1167292 15 62939598 [T/C] NM_015059 TLN2 EXON Missense_A30V exm1167296 15 62942342 [A/G] NM_015059 TLN2 EXON Missense_A66T exm1167297 15 62942343 [A/C] NM_015059 TLN2 EXON Missense_A66E exm1167299 15 62944246 [T/C] NM_015059 TLN2 EXON Missense_R93W exm1167303 15 62945400 [T/C] NM_015059 TLN2 EXON Missense_T135I exm1836256 15 62945427 [T/C] NM_015059 TLN2 EXON Missense_T144M exm2264576 15 62954948 [A/C] NM_015059 TLN2 Silent exm1167313 15 62966039 [G/C] NM_015059 TLN2 EXON Missense_L268V exm1167318 15 62967428 [T/C] NM_015059 TLN2 EXON Missense_C289R exm1167341 15 62989946 [T/C] NM_015059 TLN2 EXON Missense_A451V exm1167344 15 62989963 [T/C] NM_015059 TLN2 EXON Missense_R457C exm1167351 15 62989996 [T/G] NM_015059 TLN2 EXON Missense_V468F exm1167369 15 62994307 [T/G] NM_015059 TLN2 EXON Missense_V605L exm1167370 15 62994314 [A/G] NM_015059 TLN2 EXON Missense_S607N exm1167381 15 62995056 [A/G] NM_015059 TLN2 EXON Missense_R666Q exm1167383 15 62999319 [A/G] NM_015059 TLN2 EXON Missense_N680S exm1167386 15 62999427 [T/C] NM_015059 TLN2 EXON Missense_T716I exm1167392 15 63000791 [T/C] NM_015059 TLN2 EXON Missense_R755C exm1167393 15 63000792 [A/G] NM_015059 TLN2 EXON Missense_R755H exm1167400 15 63000854 [A/G] NM_015059 TLN2 EXON Missense_V776M exm1167403 15 63000909 [A/G] NM_015059 TLN2 EXON Missense_R794Q exm1167411 15 63004200 [T/C] NM_015059 TLN2 EXON Missense_M853T exm1167422 15 63009823 [T/G] NM_015059 TLN2 EXON Missense_S938A exm1167423 15 63009832 [A/G] NM_015059 TLN2 EXON Missense_A941T exm1167428 15 63012008 [A/G] NM_015059 TLN2 EXON Missense_G974R exm1836322 15 63014585 [A/G] NM_015059 TLN2 EXON Missense_A1009T exm1167443 15 63017183 [A/C] NM_015059 TLN2 EXON Missense_E1045D exm1167445 15 63017220 [A/G] NM_015059 TLN2 EXON Missense_T1058A exm1167452 15 63019326 [T/C] NM_015059 TLN2 EXON Missense_A1099V exm1167460 15 63029146 [T/C] NM_015059 TLN2 EXON Missense_S1143L exm2277080 15 63029160 [T/G] NM_015059 TLN2 EXON Missense_A1148S exm1167470 15 63029266 [A/G] NM_015059 TLN2 EXON Missense_R1183H exm1167484 15 63031659 [T/G] NM_015059 TLN2 EXON Missense_G1267V exm1167491 15 63032931 [A/G] NM_015059 TLN2 EXON Missense_A1330T exm1167497 15 63040582 [C/G] NM_015059 TLN2 EXON Missense_T1353S exm1836347 15 63053905 [A/C] NM_015059 TLN2 EXON Missense_D1555A exm1167532 15 63054511 [T/C] NM_015059 TLN2 EXON Missense_T1607I exm1167548 15 63055872 [T/C] NM_015059 TLN2 EXON Missense_T1691M exm1167564 15 63063218 [T/C] NM_015059 TLN2 EXON Missense_A1751V exm1167568 15 63068996 [A/G] NM_015059 TLN2 EXON Missense_A1801T exm1167576 15 63069086 [A/G] NM_015059 TLN2 EXON Missense_A1831T exm1167577 15 63069095 [A/G] NM_015059 TLN2 EXON Missense_E1834K exm1167586 15 63075982 [A/G] NM_015059 TLN2 EXON Missense_V1877I exm1167595 15 63084855 [T/C] NM_015059 TLN2 EXON Missense_R1918C exm1167598 15 63084919 [A/G] NM_015059 TLN2 EXON Missense_Q1939R exm1167602 15 63084979 [T/C] NM_015059 TLN2 EXON Missense_T1959M exm1167610 15 63088447 [T/C] NM_015059 TLN2 EXON Missense_A2002V exm1167615 15 63089435 [T/C] NM_015059 TLN2 EXON Missense_T2023M exm1167634 15 63092900 [G/C] NM_015059 TLN2 EXON Missense_E2137Q exm1167641 15 63097809 [T/C] NM_015059 TLN2 EXON Missense_S2163L exm2252236 15 63097831 [A/G] NM_015059 TLN2 EXON Synonymous_T2170T exm2252237 15 63097853 [A/C] NM_015059 TLN2 EXON Synonymous_R2178R exm1836390 15 63097853 [A/C] NM_015059 TLN2 EXON Synonymous_R2178R exm1167649 15 63097958 [A/G] NM_015059 TLN2 EXON Missense_V2213M exm1167651 15 63102139 [A/C] NM_015059 TLN2 EXON Missense_P2227T exm1167653 15 63102176 [A/G] NM_015059 TLN2 EXON Missense_R2239H exm1167659 15 63111739 [T/C] NM_015059 TLN2 EXON Missense_F2266L exm1167662 15 63111778 [A/G] NM_015059 TLN2 EXON Missense_G2279S exm1167664 15 63111781 [A/G] NM_015059 TLN2 EXON Missense_A2280T exm1167667 15 63111808 [A/G] NM_015059 TLN2 EXON Missense_E2289K exm1167668 15 63112696 [A/G] NM_015059 TLN2 EXON Missense_V2297M exm1167676 15 63125775 [A/G] NM_015059 TLN2 EXON Missense_A2359T exm1836414 15 63128147 [C/G] NM_015059 TLN2 EXON Missense_Q2417E exm1167692 15 63128231 [T/G] NM_015059 TLN2 EXON Missense_V2445L exm1167696 15 63131091 [T/C] NM_015059 TLN2 EXON Missense_L2471F exm1836420 15 63131098 [A/G] NM_015059 TLN2 EXON Missense_R2473H exm1167700 15 63131139 [A/G] NM_015059 TLN2 EXON Missense_D2487N exm1167705 15 63132805 [A/G] NM_015059 TLN2 EXON Missense_G2542D exm2223613 15 63335090 [T/G] NM_001018006,NM_000366,NM_001018004,NM_001018007,NM_001018005,NM_001018020 TPM1,TPM1,TPM1,TPM1,TPM1,TPM1 EXON Missense_R21L,Missense_R21L,Missense_R21L,Missense_R21L,Missense_R21L,Missense_R21L exm2252239 15 63353451 [A/G] NM_001018006,NM_000366,NM_001018004,NM_001018007,NM_001018005,NM_001018020,NM_001018008 TPM1,TPM1,TPM1,TPM1,TPM1,TPM1,TPM1 EXON Synonymous_A206A,Synonymous_A206A,Silent,Silent,Silent,Synonymous_A206A,Silent exm1167743 15 63353451 [A/G] NM_001018006,NM_000366,NM_001018004,NM_001018007,NM_001018005,NM_001018020,NM_001018008 TPM1,TPM1,TPM1,TPM1,TPM1,TPM1,TPM1 EXON Synonymous_A206A,Synonymous_A206A,Silent,Silent,Silent,Synonymous_A206A,Silent exm2264564 15 63359564 [A/C] NM_001018006,NM_001018004,NM_001018007,NM_001018020,NM_001018008 TPM1,TPM1,TPM1,TPM1,TPM1 Silent,Silent,Silent,Silent,Silent exm1167754 15 63362141 [A/C] NM_001018006,NM_001018004,NM_001018007,NM_001018020,NM_001018008 TPM1,TPM1,TPM1,TPM1,TPM1 EXON Silent,Silent,Silent,Silent,Missense_X246S exm1167757 15 63363291 [A/G] NM_001018006,NM_001018004,NM_001018007,NM_001018020 TPM1,TPM1,TPM1,TPM1 EXON Missense_K259E,Missense_K259E,Missense_K259E,Missense_K259E exm-rs2652834 15 63396867 [A/G] exm1167765 15 63414083 [A/C] NM_032857,NM_171846 LACTB,LACTB EXON Missense_M5L,Missense_M5L exm1167766 15 63414116 [A/G] NM_032857,NM_171846 LACTB,LACTB EXON Missense_G16R,Missense_G16R exm1167781 15 63419699 [A/C] NM_032857,NM_171846 LACTB,LACTB EXON Missense_K255Q,Missense_K255Q exm1167784 15 63419763 [A/G] NM_032857,NM_171846 LACTB,LACTB EXON Missense_R276Q,Missense_R276Q exm1836470 15 63419840 [A/G] NM_032857,NM_171846 LACTB,LACTB EXON Missense_I302V,Missense_I302V exm1167787 15 63421686 [A/T] NM_032857,NM_171846 LACTB,LACTB EXON Missense_S319C,Missense_S319C exm1836474 15 63421743 [A/G] NM_032857,NM_171846 LACTB,LACTB EXON Missense_A338T,Missense_A338T exm1167799 15 63433602 [C/G] NM_032857 LACTB EXON Missense_M414I exm2252240 15 63433651 [T/C] NM_032857 LACTB EXON Synonymous_L431L exm1167806 15 63433766 [A/G] NM_032857 LACTB EXON Missense_R469K exm1167811 15 63433825 [A/G] NM_032857 LACTB EXON Missense_A489T exm1167831 15 63448672 [T/G] NM_015920 RPS27L EXON Missense_H19N exm1167847 15 63547752 [A/G] NM_016530 RAB8B EXON Missense_N98S exm1167867 15 63569901 [A/G] NM_031301,NM_001145646 APH1B,APH1B EXON Missense_T27A,Missense_T27A exm1167881 15 63579631 [T/G] NM_031301,NM_001145646 APH1B,APH1B EXON Missense_L122V,Silent exm1167890 15 63594606 [T/C] NM_031301,NM_001145646 APH1B,APH1B EXON Missense_C181R,Missense_C140R exm1167893 15 63594660 [T/G] NM_031301,NM_001145646 APH1B,APH1B EXON Missense_V199L,Missense_V158L exm1167899 15 63597857 [T/G] NM_031301,NM_001145646 APH1B,APH1B EXON Missense_F217L,Missense_F176L exm1167900 15 63597885 [A/G] NM_031301,NM_001145646 APH1B,APH1B EXON Missense_A227T,Missense_A186T exm1167902 15 63597913 [T/G] NM_031301,NM_001145646 APH1B,APH1B EXON Missense_R236L,Missense_R195L exm1167903 15 63597934 [T/C] NM_031301,NM_001145646 APH1B,APH1B EXON Missense_L243P,Missense_L202P exm1167904 15 63597969 [T/C] NM_031301,NM_001145646 APH1B,APH1B EXON Missense_R255C,Missense_R214C exm2274758 15 63618488 [A/G] NM_206925,NM_001218 CA12,CA12 EXON Missense_A343V,Missense_A354V exm1167917 15 63619426 [T/A] NM_206925,NM_001218 CA12,CA12 EXON Missense_I294N,Missense_I305N exm1167918 15 63619433 [T/C] NM_206925,NM_001218 CA12,CA12 Silent,Silent exm2252241 15 63623463 [A/G] NM_206925,NM_001218 CA12,CA12 Silent,Silent exm1167932 15 63632516 [A/G] NM_206925,NM_001218 CA12,CA12 EXON Nonsense_R240X,Nonsense_R240X exm1167933 15 63632569 [T/C] NM_206925,NM_001218 CA12,CA12 EXON Missense_R222Q,Missense_R222Q exm1167937 15 63632626 [A/G] NM_206925,NM_001218 CA12,CA12 EXON Missense_P203L,Missense_P203L exm1167942 15 63632931 [T/C] NM_206925,NM_001218 CA12,CA12 EXON Missense_V193I,Missense_V193I exm1167970 15 63638800 [A/G] NM_206925,NM_001218 CA12,CA12 EXON Missense_T72M,Missense_T72M exm1167973 15 63638822 [A/G] NM_206925,NM_001218 CA12,CA12 EXON Missense_L65F,Missense_L65F exm1167984 15 63673843 [C/G] NM_206925,NM_001218 CA12,CA12 EXON Missense_P26R,Missense_P26R exm2260456 15 63722915 [A/G] exm-rs11071746 15 63733263 [T/C] exm-rs10519210 15 63737925 [T/G] exm1167997 15 63824890 [A/G] NR_046341,NR_046342,NM_001256702,NM_006537 USP3,USP3,USP3,USP3 EXON Silent,Silent,Missense_S46G,Missense_S46G exm2252242 15 63829353 [T/C] NR_046341,NR_046342,NM_001256702,NM_006537 USP3,USP3,USP3,USP3 EXON Silent,Silent,Silent,Synonymous_Y94Y exm1168020 15 63862705 [A/G] NR_046341,NR_046342,NM_001256702,NM_006537 USP3,USP3,USP3,USP3 EXON Silent,Silent,Missense_G235S,Missense_G279S exm1168021 15 63862721 [T/C] NR_046341,NR_046342,NM_001256702,NM_006537 USP3,USP3,USP3,USP3 EXON Silent,Silent,Missense_S240F,Missense_S284F exm1168031 15 63866584 [A/C] NR_046341,NR_046342,NM_001256702,NM_006537 USP3,USP3,USP3,USP3 EXON Silent,Silent,Missense_P316T,Missense_P360T exm1168041 15 63880962 [T/C] NR_046341,NR_046342,NM_001256702,NM_006537,NR_034080 USP3,USP3,USP3,USP3,LOC100130855 EXON Silent,Silent,Missense_T382I,Missense_T426I,Silent exm1168049 15 63882919 [A/G] NR_046341,NR_046342,NM_001256702,NM_006537,NR_034080 USP3,USP3,USP3,USP3,LOC100130855 EXON Silent,Silent,Missense_N442S,Missense_N486S,Silent exm1168052 15 63882963 [A/G] NR_046341,NR_046342,NM_001256702,NM_006537,NR_034080 USP3,USP3,USP3,USP3,LOC100130855 EXON Silent,Silent,Missense_A457T,Missense_A501T,Silent exm1168055 15 63889602 [A/T] NR_034080,NM_203373 LOC100130855,FBXL22 EXON Silent,Missense_L4Q exm1168064 15 63889723 [C/G] NR_034080,NM_203373 LOC100130855,FBXL22 EXON Silent,Missense_E44D exm2223624 15 63889730 [A/G] NR_034080,NM_203373 LOC100130855,FBXL22 EXON Silent,Missense_A47T exm1168070 15 63889823 [T/C] NR_034080,NM_203373 LOC100130855,FBXL22 EXON Silent,Missense_W78R exm1168071 15 63889836 [A/G] NR_034080,NM_203373 LOC100130855,FBXL22 EXON Silent,Missense_R82H exm1168081 15 63889923 [T/G] NR_034080,NM_203373 LOC100130855,FBXL22 EXON Silent,Missense_F111C exm1168084 15 63889934 [G/C] NR_034080,NM_203373 LOC100130855,FBXL22 EXON Silent,Missense_V115L exm2223625 15 63889940 [A/G] NR_034080,NM_203373 LOC100130855,FBXL22 EXON Silent,Missense_D117N exm1168086 15 63889941 [A/G] NR_034080,NM_203373 LOC100130855,FBXL22 EXON Silent,Missense_D117G exm1168093 15 63893617 [T/G] NM_203373 FBXL22 EXON Missense_L159W exm1168138 15 63915986 [C/G] NM_003922 HERC1 EXON Missense_V4517L exm1168148 15 63918279 [T/C] NM_003922 HERC1 EXON Missense_I4394V exm1168152 15 63918308 [A/G] NM_003922 HERC1 EXON Missense_P4384L exm1168166 15 63926054 [A/G] NM_003922 HERC1 EXON Missense_S4229L exm2223628 15 63932415 [A/G] NM_003922 HERC1 EXON Missense_F3946S exm1168212 15 63935224 [A/G] NM_003922 HERC1 EXON Missense_S3789P exm1168216 15 63935703 [T/C] NM_003922 HERC1 EXON Missense_R3744Q exm1168218 15 63937209 [G/C] NM_003922 HERC1 EXON Missense_E3722D exm1168222 15 63937296 [A/G] NM_003922 HERC1 EXON Synonymous_T3693T exm1168225 15 63937724 [T/C] NM_003922 HERC1 EXON Missense_R3679H exm1168231 15 63940360 [A/G] NM_003922 HERC1 EXON Missense_P3596S exm1168232 15 63941935 [T/C] NM_003922 HERC1 EXON Missense_Y3579C exm1168252 15 63947971 [T/C] NM_003922 HERC1 EXON Missense_N3352D exm1168254 15 63948288 [T/C] NM_003922 HERC1 EXON Missense_Q3290R exm1168267 15 63950849 [A/C] NM_003922 HERC1 EXON Missense_A3165S exm1168269 15 63950887 [A/G] NM_003922 HERC1 EXON Missense_S3152F exm1168271 15 63950903 [T/C] NM_003922 HERC1 EXON Missense_V3147I exm1168292 15 63958131 [T/C] NM_003922 HERC1 EXON Missense_G2848S exm1168295 15 63958155 [A/C] NM_003922 HERC1 EXON Missense_A2840S exm1168299 15 63958227 [T/C] NM_003922 HERC1 EXON Missense_A2816T exm1836672 15 63958229 [T/C] NM_003922 HERC1 EXON Missense_G2815E exm1836682 15 63964779 [G/C] NM_003922 HERC1 EXON Missense_T2654S exm1168320 15 63966772 [T/C] NM_003922 HERC1 EXON Missense_A2539T exm1168325 15 63966865 [T/G] NM_003922 HERC1 EXON Missense_L2508M exm2223631 15 63966909 [A/G] NM_003922 HERC1 EXON Missense_S2493F exm1836687 15 63966947 [T/C] NM_003922 HERC1 EXON Synonymous_Q2480Q exm1168330 15 63966967 [T/C] NM_003922 HERC1 EXON Missense_S2474G exm1168345 15 63967308 [T/G] NM_003922 HERC1 EXON Missense_T2360N exm1168355 15 63970326 [T/C] NM_003922 HERC1 EXON Missense_S2263N exm1168356 15 63970338 [T/C] NM_003922 HERC1 EXON Missense_R2259H exm1168359 15 63970440 [T/C] NM_003922 HERC1 EXON Missense_R2225Q exm1168360 15 63970456 [T/C] NM_003922 HERC1 EXON Missense_I2220V exm1168362 15 63970539 [T/C] NM_003922 HERC1 EXON Missense_R2192H exm1168369 15 63972816 [A/G] NM_003922 HERC1 EXON Missense_S2129P exm1168375 15 63978643 [T/C] NM_003922 HERC1 EXON Missense_N2047S exm1168380 15 63981805 [T/G] NM_003922 HERC1 EXON Missense_Q2011K exm1168382 15 63981853 [T/C] NM_003922 HERC1 EXON Missense_T1995A exm1168387 15 63982745 [A/C] NM_003922 HERC1 EXON Missense_A1978S exm1168408 15 63988367 [A/G] NM_003922 HERC1 EXON Missense_H1693Y exm1168409 15 63988400 [C/G] NM_003922 HERC1 EXON Missense_L1682V exm1168418 15 63991118 [A/C] NM_003922 HERC1 EXON Missense_S1572A exm-rs4411464 15 63995423 [T/C] NM_003922 HERC1 Silent exm1168423 15 63998984 [T/C] NM_003922 HERC1 EXON Missense_K1544R exm1168430 15 64005075 [T/C] NM_003922 HERC1 EXON Missense_E1495K exm1168438 15 64005783 [A/C] NM_003922 HERC1 EXON Missense_G1411V exm1168462 15 64015479 [T/C] NM_003922 HERC1 EXON Missense_R1215Q exm1168470 15 64017685 [T/C] NM_003922 HERC1 EXON Missense_G1125D exm1168479 15 64021476 [T/G] NM_003922 HERC1 EXON Missense_K1038T exm1168488 15 64025223 [T/C] NM_003922 HERC1 EXON Missense_N923S exm1168507 15 64041905 [C/G] NM_003922 HERC1 EXON Missense_A663G exm1168519 15 64048910 [A/G] NM_003922 HERC1 EXON Missense_T420M exm1168535 15 64066996 [T/G] NM_003922 HERC1 EXON Missense_A276E exm1168553 15 64067296 [T/C] NM_003922 HERC1 EXON Missense_S176N exm1168582 15 64200766 [T/C] NM_014326 DAPK2 EXON Missense_A356T exm1168584 15 64204120 [A/G] NM_014326 DAPK2 EXON Missense_P340L exm1168588 15 64204147 [A/G] NM_014326 DAPK2 EXON Missense_S331L exm1168600 15 64217046 [A/G] NM_014326 DAPK2 EXON Missense_I276T exm1168606 15 64218141 [A/G] NM_014326 DAPK2 EXON Missense_R271W exm1168614 15 64218197 [A/C] NM_014326 DAPK2 EXON Missense_S252I exm1168624 15 64221766 [T/C] NM_014326 DAPK2 EXON Missense_V215I exm1168645 15 64275754 [T/C] NM_014326 DAPK2 EXON Missense_D98N exm1168646 15 64275759 [T/C] NM_014326 DAPK2 EXON Missense_R96H exm1168650 15 64275843 [T/C] NM_014326 DAPK2 EXON Missense_R68Q exm1168654 15 64275859 [A/G] NM_014326 DAPK2 EXON Missense_R63W exm1168658 15 64275876 [T/C] NM_014326 DAPK2 EXON Missense_R57Q exm1168660 15 64275924 [T/C] NM_014326 DAPK2 EXON Missense_R41Q exm1836829 15 64275938 [A/G] NM_014326 DAPK2 EXON Synonymous_I36I exm1168665 15 64332445 [T/C] NM_014326 DAPK2 EXON Missense_M6V exm1168666 15 64332460 [T/C] NM_014326 DAPK2 EXON Missense_M1V exm1168686 15 64381033 [A/G] NM_001014812,NM_032231 FAM96A,FAM96A EXON Missense_R48W,Missense_R48W exm1168707 15 64388275 [A/G] NM_001242933,NM_148955,NM_003099 SNX1,SNX1,SNX1 EXON Synonymous_L21L,Synonymous_L21L,Synonymous_L21L exm1168715 15 64410352 [T/A] NM_001242933,NM_148955,NM_003099 SNX1,SNX1,SNX1 EXON Missense_N103I,Silent,Missense_N103I exm1168726 15 64419374 [T/G] NM_001242933,NM_148955,NM_003099 SNX1,SNX1,SNX1 EXON Synonymous_G218G,Synonymous_G153G,Synonymous_G218G exm1168733 15 64422118 [A/C] NM_001242933,NM_148955,NM_003099 SNX1,SNX1,SNX1 EXON Missense_P271T,Missense_P206T,Missense_P271T exm1168750 15 64424011 [T/C] NM_001242933,NM_148955,NM_003099 SNX1,SNX1,SNX1 EXON Missense_H381Y,Missense_H316Y,Missense_H381Y exm1168763 15 64428559 [A/G] NM_001242933,NM_148955,NM_003099 SNX1,SNX1,SNX1 EXON Missense_D466N,Missense_D401N,Missense_D466N exm2272310 15 64430607 [T/C] NM_001242933,NM_148955,NM_003099 SNX1,SNX1,SNX1 EXON Silent,Silent,Silent exm1168780 15 64444017 [A/G] NR_073534,NM_024798 SNX22,SNX22 EXON Silent,Missense_G15R exm1168793 15 64445532 [A/G] NR_073534,NM_024798 SNX22,SNX22 EXON Silent,Missense_N118S exm1168796 15 64446166 [T/G] NR_073534,NM_024798 SNX22,SNX22 EXON Silent,Missense_F142C exm1168797 15 64446195 [T/G] NR_073534,NM_024798 SNX22,SNX22 EXON Silent,Missense_S152A exm1168803 15 64446600 [A/G] NR_073534,NM_024798 SNX22,SNX22 EXON Silent,Missense_V159M exm1168819 15 64448304 [T/C] NR_073534,NM_024798,NM_000942 SNX22,SNX22,PPIB EXON Silent,Silent,Missense_R190Q exm1168826 15 64448986 [T/C] NR_073534,NM_024798,NM_000942 SNX22,SNX22,PPIB EXON Silent,Silent,Missense_T156A exm1168835 15 64452308 [A/G] NM_000942 PPIB EXON Missense_T113I exm1836892 15 64455101 [T/C] NM_000942 PPIB EXON Missense_G29R exm1168868 15 64496654 [T/C] NM_022048 CSNK1G1 EXON Missense_V329I exm1168871 15 64497082 [C/G] NM_022048 CSNK1G1 EXON Missense_L278V exm1168902 15 64669069 [T/C] NM_014736,NM_001029989 KIAA0101,KIAA0101 EXON Missense_V55M,Silent exm1168933 15 64687630 [T/A] NM_016213 TRIP4 EXON Missense_L102Q exm1168936 15 64687719 [C/G] NM_016213 TRIP4 EXON Missense_D132H exm1168938 15 64689851 [A/G] NM_016213 TRIP4 EXON Missense_N151S exm1836935 15 64689933 [G/C] NM_016213 TRIP4 EXON Missense_H178Q exm1168942 15 64689964 [T/C] NM_016213 TRIP4 EXON Missense_R189C exm1168954 15 64701858 [A/G] NM_016213 TRIP4 EXON Missense_S292G exm1168958 15 64701901 [T/G] NM_016213 TRIP4 EXON Missense_L306W exm1168962 15 64701934 [A/G] NM_016213 TRIP4 EXON Missense_R317Q exm1168965 15 64701960 [T/G] NM_016213 TRIP4 EXON Missense_V326F exm1168969 15 64706312 [A/G] NM_016213 TRIP4 EXON Missense_N358D exm1168973 15 64706392 [T/G] NM_016213 TRIP4 EXON Missense_M384I exm1168974 15 64706405 [T/C] NM_016213 TRIP4 EXON Missense_P389S exm1168981 15 64710782 [T/C] NM_016213 TRIP4 EXON Missense_R405C exm1168983 15 64710803 [C/G] NM_016213 TRIP4 EXON Missense_E412Q exm1168998 15 64747204 [A/G] NM_016213 TRIP4 EXON Missense_D563N exm1169011 15 64791920 [A/C] NM_015042 ZNF609 EXON Missense_K101T exm1169014 15 64792042 [T/G] NM_015042 ZNF609 EXON Missense_G142C exm1169029 15 64792283 [T/C] NM_015042 ZNF609 EXON Missense_A222V exm1169052 15 64966252 [A/G] NM_015042 ZNF609 EXON Missense_K400R exm1169068 15 64966690 [A/G] NM_015042 ZNF609 EXON Missense_G546E exm2252247 15 64966700 [T/C] NM_015042 ZNF609 EXON Synonymous_N549N exm1169076 15 64966927 [A/G] NM_015042 ZNF609 EXON Missense_D625G exm1169080 15 64967037 [A/G] NM_015042 ZNF609 EXON Missense_A662T exm1169101 15 64967502 [A/G] NM_015042 ZNF609 EXON Missense_T817A exm1169122 15 64968084 [T/C] NM_015042 ZNF609 EXON Missense_R1011C exm1169123 15 64968085 [A/G] NM_015042 ZNF609 EXON Missense_R1011H exm1169126 15 64968147 [T/C] NM_015042 ZNF609 EXON Missense_R1032W exm1169133 15 64968247 [T/G] NM_015042 ZNF609 EXON Missense_G1065V exm1169135 15 64968280 [T/A] NM_015042 ZNF609 EXON Missense_K1076I exm1169144 15 64970496 [T/C] NM_015042 ZNF609 EXON Missense_T1195M exm1169146 15 64970535 [G/C] NM_015042 ZNF609 EXON Missense_P1208R exm1169156 15 64970626 [A/C] NM_015042 ZNF609 EXON Missense_D1238E exm1169170 15 64973044 [A/G] NM_015042 ZNF609 EXON Missense_N1382S exm1169178 15 64980910 [T/C] NM_002537 OAZ2 EXON Missense_X188W exm1169181 15 64980951 [C/G] NM_002537 OAZ2 EXON Missense_D175H exm1169192 15 64983655 [T/G] NM_002537 OAZ2 EXON Missense_F52L exm1169196 15 64983681 [A/C] NM_002537 OAZ2 EXON Missense_W44G exm1169203 15 65040635 [T/C] NM_194272 RBPMS2 EXON Missense_A184T exm1169213 15 65041232 [T/C] NM_194272 RBPMS2 EXON Missense_A129T exm-IND15-62895188 15 65108136 [D/I] NM_025049 PIF1 EXON exm1169241 15 65108504 [T/A] NM_025049 PIF1 EXON Missense_I640N exm1169244 15 65108532 [G/C] NM_025049 PIF1 EXON Missense_A631P exm1169246 15 65108547 [T/C] NM_025049 PIF1 EXON Missense_D626N exm1169248 15 65108793 [A/G] NM_025049 PIF1 EXON Missense_R616W exm1169249 15 65108795 [T/C] NM_025049 PIF1 EXON Missense_R615Q exm1169263 15 65110216 [T/C] NM_025049 PIF1 EXON Missense_G535R exm1837017 15 65110254 [T/G] NM_025049 PIF1 EXON Missense_E522A exm1169270 15 65110471 [T/C] NM_025049 PIF1 EXON Missense_E505K exm1169273 15 65110492 [A/G] NM_025049 PIF1 EXON Nonsense_R498X exm1169274 15 65110512 [T/C] NM_025049 PIF1 EXON Missense_R491Q exm1169281 15 65112044 [A/G] NM_025049 PIF1 Silent exm1169283 15 65112081 [A/G] NM_025049 PIF1 EXON Missense_A433V exm1169290 15 65113182 [T/C] NM_025049 PIF1 EXON Missense_R398G exm1169298 15 65113372 [T/G] NM_025049 PIF1 EXON Nonsense_C360X exm1169299 15 65113380 [A/G] NM_025049 PIF1 EXON Missense_R358W exm1169300 15 65113383 [A/G] NM_025049 PIF1 EXON Missense_P357S exm1169305 15 65113473 [A/G] NM_025049 PIF1 EXON Missense_R327W exm1169313 15 65113632 [T/C] NM_025049 PIF1 EXON Missense_R302Q exm1169315 15 65113657 [A/G] NM_025049 PIF1 EXON Missense_R294W exm1169318 15 65113687 [A/G] NM_025049 PIF1 EXON Missense_C284R exm1169319 15 65113692 [T/G] NM_025049 PIF1 EXON Missense_A282D exm1169322 15 65113714 [T/C] NM_025049 PIF1 EXON Missense_G275S exm1169324 15 65114484 [A/G] NM_025049 PIF1 EXON Synonymous_T266T exm1169335 15 65114700 [G/C] NM_025049 PIF1 EXON Missense_S223T exm1169363 15 65140807 [A/G] NM_001195059,NM_025201 PLEKHO2,PLEKHO2 EXON Silent,Missense_G10S exm1169366 15 65140891 [A/G] NM_001195059,NM_025201 PLEKHO2,PLEKHO2 EXON Silent,Missense_D38N exm1169370 15 65140937 [A/G] NM_001195059,NM_025201 PLEKHO2,PLEKHO2 EXON Silent,Missense_N53S exm1169372 15 65147149 [C/G] NM_001195059,NM_025201 PLEKHO2,PLEKHO2 EXON Missense_E14D,Missense_E64D exm1169374 15 65147181 [A/G] NM_001195059,NM_025201 PLEKHO2,PLEKHO2 EXON Missense_R25H,Missense_R75H exm1169376 15 65147205 [A/G] NM_001195059,NM_025201 PLEKHO2,PLEKHO2 EXON Missense_R33H,Missense_R83H exm1169377 15 65147238 [T/G] NM_001195059,NM_025201 PLEKHO2,PLEKHO2 Silent,Silent exm1169402 15 65157203 [T/C] NM_001195059,NM_025201 PLEKHO2,PLEKHO2 EXON Missense_R147W,Missense_R197W exm1169409 15 65157360 [A/G] NM_001195059,NM_025201 PLEKHO2,PLEKHO2 EXON Missense_E199G,Missense_E249G exm2274759 15 65157407 [A/G] NM_001195059,NM_025201 PLEKHO2,PLEKHO2 EXON Missense_V215I,Missense_V265I exm1169416 15 65157482 [T/C] NM_001195059,NM_025201 PLEKHO2,PLEKHO2 EXON Missense_P240S,Missense_P290S exm1169423 15 65157529 [C/G] NM_001195059,NM_025201 PLEKHO2,PLEKHO2 EXON Missense_E255D,Missense_E305D exm1169428 15 65157652 [A/G] NM_001195059,NM_025201 PLEKHO2,PLEKHO2 EXON Missense_M296I,Missense_M346I exm1169432 15 65157755 [G/C] NM_001195059,NM_025201 PLEKHO2,PLEKHO2 EXON Missense_P331A,Missense_P381A exm1169436 15 65157774 [A/G] NM_001195059,NM_025201 PLEKHO2,PLEKHO2 EXON Missense_R337H,Missense_R387H exm1169438 15 65157837 [A/G] NM_001195059,NM_025201 PLEKHO2,PLEKHO2 EXON Missense_R358Q,Missense_R408Q exm1169441 15 65157881 [A/G] NM_001195059,NM_025201 PLEKHO2,PLEKHO2 EXON Missense_T373A,Missense_T423A exm2274760 15 65157939 [G/C] NM_001195059,NM_025201 PLEKHO2,PLEKHO2 EXON Missense_T392R,Missense_T442R exm1169448 15 65157948 [T/G] NM_001195059,NM_025201 PLEKHO2,PLEKHO2 EXON Missense_S395I,Missense_S445I exm1169451 15 65158047 [A/G] NM_001195059,NM_025201 PLEKHO2,PLEKHO2 EXON Missense_R428Q,Missense_R478Q exm1169456 15 65208022 [A/G] NM_182703 ANKDD1A EXON Missense_E21K exm1169461 15 65208046 [A/G] NM_182703 ANKDD1A EXON Missense_G29S exm1837067 15 65209705 [T/C] NM_182703 ANKDD1A EXON Missense_R87C exm1169480 15 65214156 [T/G] NM_182703 ANKDD1A EXON Missense_G102C exm1169482 15 65214166 [A/G] NM_182703 ANKDD1A EXON Missense_R105Q exm1169483 15 65214210 [C/G] NM_182703 ANKDD1A EXON Missense_E120Q exm1169486 15 65218320 [T/C] NM_182703 ANKDD1A EXON Missense_A141V exm1169488 15 65218337 [A/C] NM_182703 ANKDD1A EXON Missense_L147M exm1169501 15 65219167 [A/G] NM_182703 ANKDD1A EXON Missense_G180D exm1169507 15 65223029 [A/G] NM_182703 ANKDD1A EXON Missense_T194A exm1169511 15 65223078 [A/G] NM_182703 ANKDD1A EXON Missense_R210Q exm1169515 15 65223718 [A/G] NM_182703 ANKDD1A EXON Missense_G235R exm1169516 15 65223728 [G/C] NM_182703 ANKDD1A EXON Missense_P238R exm1169520 15 65226343 [T/A] NM_182703 ANKDD1A EXON Missense_L259Q exm1169522 15 65226376 [T/C] NM_182703 ANKDD1A EXON Missense_S270L exm1169538 15 65234754 [A/G] NM_182703 ANKDD1A EXON Missense_V320M exm1169547 15 65235776 [A/G] NM_182703 ANKDD1A EXON Missense_K355E exm1169556 15 65236879 [T/C] NM_182703 ANKDD1A EXON Missense_R366C exm1169557 15 65236880 [A/G] NM_182703 ANKDD1A EXON Missense_R366H exm1169566 15 65239676 [A/G] NM_182703 ANKDD1A EXON Missense_R405Q exm1169582 15 65242136 [A/G] NM_182703 ANKDD1A EXON Missense_N476D exm1169583 15 65242140 [T/C] NM_182703 ANKDD1A EXON Missense_P477L exm1169606 15 65262475 [T/C] NM_016630,NM_001127890,NM_001127889 SPG21,SPG21,SPG21 EXON Missense_A180T,Missense_A153T,Missense_A180T exm1837123 15 65273363 [T/C] NM_016630,NM_001127890,NM_001127889 SPG21,SPG21,SPG21 EXON Missense_I22V,Missense_I22V,Missense_I22V exm1169631 15 65295441 [T/G] NM_139242 MTFMT EXON Missense_K377Q exm1837129 15 65295476 [T/C] NM_139242 MTFMT EXON Missense_C365Y exm1169639 15 65295576 [A/G] NM_139242 MTFMT EXON Nonsense_R332X exm1169646 15 65298496 [T/C] NM_139242 MTFMT EXON Missense_I283V exm1169648 15 65308791 [A/G] NM_139242 MTFMT EXON Missense_R266C exm1169653 15 65312589 [T/A] NM_139242 MTFMT EXON Missense_L223M exm1169657 15 65313871 [A/G] NM_139242 MTFMT EXON Missense_S209L exm1169659 15 65313896 [T/C] NM_139242 MTFMT EXON Missense_A201T exm1169668 15 65319245 [A/G] NM_139242 MTFMT EXON Missense_S115P exm1169673 15 65321780 [A/T] NM_139242 MTFMT EXON Missense_F58I exm1169691 15 65345314 [A/G] NM_178859 SLC51B EXON Missense_M67V exm1169694 15 65345387 [A/C] NM_178859 SLC51B EXON Missense_N91T exm1169695 15 65345444 [T/C] NM_178859 SLC51B EXON Missense_L110S exm1169696 15 65345477 [T/C] NM_178859 SLC51B EXON Missense_P121L exm1169701 15 65347277 [A/G] NM_016563 RASL12 EXON Missense_A254V exm1169715 15 65347458 [A/G] NM_016563 RASL12 EXON Missense_R194W exm1837157 15 65347485 [C/G] NM_016563 RASL12 EXON Missense_R185G exm1169722 15 65350832 [T/C] NM_016563 RASL12 EXON Missense_A120T exm1169729 15 65350955 [T/C] NM_016563 RASL12 EXON Missense_D79N exm1169748 15 65369242 [A/G] NM_001101362 KBTBD13 EXON Missense_G30D exm1169749 15 65369251 [A/G] NM_001101362 KBTBD13 EXON Missense_R33Q exm1169767 15 65369514 [A/G] NM_001101362 KBTBD13 EXON Missense_V121M exm2252253 15 65370395 [T/C] NM_001101362 KBTBD13 EXON Synonymous_Y414Y exm1169806 15 65370516 [A/G] NM_001101362 KBTBD13 EXON Missense_T455A exm1169809 15 65385511 [T/C] NM_001163692 UBAP1L EXON Missense_R357Q exm1169834 15 65411761 [C/G] NM_005707 PDCD7 EXON Missense_Q429H exm1169857 15 65425323 [T/C] NM_005707 PDCD7 EXON Missense_R266Q exm1169860 15 65425456 [A/G] NM_005707 PDCD7 EXON Missense_R222W exm1169880 15 65443222 [T/C] NM_006660 CLPX EXON Missense_E614G exm1169883 15 65445896 [A/G] NM_006660 CLPX EXON Missense_R565W exm1169889 15 65447268 [A/G] NM_006660 CLPX EXON Missense_I488T exm1169912 15 65451057 [T/C] NM_006660 CLPX EXON Missense_G250S exm1169923 15 65459019 [T/C] NM_006660 CLPX EXON Missense_E155K exm2223669 15 65471320 [A/G] NM_006660 CLPX EXON Missense_R104C exm1169932 15 65472485 [A/G] NM_006660 CLPX EXON Missense_T46I exm1169933 15 65472527 [C/G] NM_006660 CLPX EXON Missense_R32P exm1169935 15 65477436 [A/G] NM_006660 CLPX EXON Missense_S19F exm1169938 15 65477451 [A/G] NM_006660 CLPX EXON Missense_V14A exm1169947 15 65489128 [T/C] NM_003613 CILP EXON Missense_G1166S exm1169950 15 65489151 [A/G] NM_003613 CILP EXON Missense_A1158V exm1169953 15 65489229 [T/A] NM_003613 CILP EXON Missense_Y1132F exm1169955 15 65489247 [T/C] NM_003613 CILP EXON Missense_R1126H exm1169957 15 65489295 [T/C] NM_003613 CILP EXON Missense_N1110S exm1169961 15 65489347 [T/C] NM_003613 CILP EXON Missense_G1093S exm1169969 15 65489523 [T/C] NM_003613 CILP EXON Missense_R1034H exm1169972 15 65489589 [T/C] NM_003613 CILP EXON Missense_G1012E exm1169977 15 65489688 [T/C] NM_003613 CILP EXON Missense_Q979R exm1169980 15 65489719 [A/G] NM_003613 CILP EXON Nonsense_R969X exm1169986 15 65489880 [T/G] NM_003613 CILP EXON Missense_Y915S exm1169989 15 65489926 [A/G] NM_003613 CILP EXON Missense_R900W exm1169990 15 65489976 [A/G] NM_003613 CILP EXON Missense_P883L exm1169995 15 65490046 [A/G] NM_003613 CILP EXON Missense_R860C exm1169997 15 65490095 [T/G] NM_003613 CILP EXON Missense_N843K exm1170002 15 65490270 [T/C] NM_003613 CILP EXON Missense_G785D exm1170015 15 65490592 [T/C] NM_003613 CILP EXON Missense_V678M exm1170019 15 65490682 [T/C] NM_003613 CILP EXON Missense_E648K exm1170025 15 65490901 [T/C] NM_003613 CILP EXON Missense_K575E exm1170027 15 65490907 [A/G] NM_003613 CILP EXON Missense_R573W exm1170042 15 65491099 [T/G] NM_003613 CILP EXON Missense_H509N exm1170046 15 65491147 [A/G] NM_003613 CILP EXON Missense_R493W exm1170050 15 65491167 [A/G] NM_003613 CILP EXON Missense_T486M exm1170055 15 65491281 [T/C] NM_003613 CILP EXON Missense_R448H exm1170059 15 65491339 [T/C] NM_003613 CILP EXON Missense_V429M exm1170061 15 65491389 [T/C] NM_003613 CILP EXON Missense_R412Q exm1170064 15 65491413 [C/G] NM_003613 CILP EXON Missense_P404R exm1170065 15 65491429 [T/C] NM_003613 CILP EXON Missense_E399K exm1170066 15 65494212 [A/G] NM_003613 CILP EXON Missense_I395T exm1837257 15 65495764 [T/C] NM_003613 CILP EXON Missense_A322T exm1170082 15 65496606 [T/C] NM_003613 CILP EXON Missense_E307K exm1170083 15 65496611 [T/C] NM_003613 CILP EXON Missense_R305K exm1170084 15 65496624 [G/C] NM_003613 CILP EXON Missense_A301P exm1170085 15 65496626 [T/C] NM_003613 CILP EXON Missense_K300R exm1170087 15 65496666 [A/G] NM_003613 CILP EXON Missense_L287F exm1170099 15 65496831 [A/G] NM_003613 CILP EXON Missense_L232F exm1170104 15 65496909 [T/G] NM_003613 CILP EXON Missense_T206P exm1170121 15 65499170 [T/C] NM_003613 CILP EXON Missense_R125Q exm1170127 15 65499260 [T/C] NM_003613 CILP EXON Missense_R95Q exm1170133 15 65499311 [T/C] NM_003613 CILP EXON Missense_R78H exm1170137 15 65500018 [A/G] NM_003613 CILP EXON Missense_T49I exm1170141 15 65500102 [C/G] NM_003613 CILP EXON Missense_G21A exm1170145 15 65502072 [T/C] NM_003613 CILP EXON Missense_V8M exm1170154 15 65553313 [T/C] NM_017851 PARP16 EXON Missense_G248E exm1170156 15 65553347 [A/G] NM_017851 PARP16 EXON Missense_R237C exm1170157 15 65555508 [T/G] NM_017851 PARP16 EXON Missense_K224Q exm1170159 15 65555516 [A/G] NM_017851 PARP16 EXON Missense_P221L exm1170185 15 65563344 [A/G] NM_017851 PARP16 EXON Missense_R81W exm1170187 15 65563370 [T/A] NM_017851 PARP16 EXON Missense_L72H exm1170193 15 65578635 [A/G] NM_017851 PARP16 EXON Missense_P44S exm1837285 15 65621257 [T/G] NM_004884 IGDCC3 EXON Nonsense_S812X exm1170200 15 65621342 [A/G] NM_004884 IGDCC3 EXON Missense_P784S exm1170201 15 65621345 [A/G] NM_004884 IGDCC3 EXON Missense_P783S exm2274761 15 65621398 [A/G] NM_004884 IGDCC3 EXON Missense_T765M exm1170209 15 65621441 [A/C] NM_004884 IGDCC3 EXON Missense_V751L exm1170212 15 65621480 [A/G] NM_004884 IGDCC3 EXON Missense_P738S exm1170216 15 65621765 [A/G] NM_004884 IGDCC3 EXON Missense_P723L exm1170217 15 65621801 [T/C] NM_004884 IGDCC3 EXON Missense_R711H exm1170220 15 65621828 [T/C] NM_004884 IGDCC3 EXON Missense_R702Q exm1170223 15 65621843 [A/G] NM_004884 IGDCC3 EXON Missense_A697V exm1170231 15 65622077 [T/C] NM_004884 IGDCC3 EXON Missense_G662S exm1170246 15 65622889 [A/G] NM_004884 IGDCC3 EXON Synonymous_L584L exm1170253 15 65623002 [C/G] NM_004884 IGDCC3 EXON Missense_L547V exm1837301 15 65623011 [T/A] NM_004884 IGDCC3 EXON Missense_W544R exm1170255 15 65623014 [C/G] NM_004884 IGDCC3 EXON Missense_P543A exm1170259 15 65623053 [G/C] NM_004884 IGDCC3 EXON Missense_R530G exm1170271 15 65623825 [A/G] NM_004884 IGDCC3 EXON Missense_R441C exm1170272 15 65623843 [T/C] NM_004884 IGDCC3 EXON Missense_V435M exm1170273 15 65623854 [T/C] NM_004884 IGDCC3 EXON Missense_R431Q exm1170282 15 65623929 [A/G] NM_004884 IGDCC3 EXON Missense_A406V exm1170283 15 65623939 [T/C] NM_004884 IGDCC3 EXON Missense_E403K exm1170292 15 65624354 [A/G] NM_004884 IGDCC3 EXON Missense_P358L exm1170298 15 65625684 [A/G] NM_004884 IGDCC3 EXON Missense_T298M exm1170309 15 65627203 [G/C] NM_004884 IGDCC3 EXON Missense_G229A exm1170324 15 65628163 [T/A] NM_004884 IGDCC3 EXON Missense_T181S exm2272256 15 65655073 [T/C] NM_004884 IGDCC3 Silent exm1170333 15 65667530 [A/G] NM_004884 IGDCC3 EXON Missense_P105L exm1170336 15 65667592 [A/C] NM_004884 IGDCC3 EXON Missense_E84D exm1170339 15 65667690 [T/C] NM_004884 IGDCC3 EXON Missense_V52I exm1170344 15 65676366 [A/G] NM_020962 IGDCC4 EXON Missense_P1245L exm1170345 15 65676385 [A/G] NM_020962 IGDCC4 EXON Missense_P1239S exm1170348 15 65676435 [T/G] NM_020962 IGDCC4 EXON Missense_T1222N exm1170353 15 65676531 [C/G] NM_020962 IGDCC4 EXON Missense_A1190G exm1170359 15 65676618 [A/G] NM_020962 IGDCC4 EXON Missense_P1161L exm1170363 15 65676726 [T/C] NM_020962 IGDCC4 EXON Missense_C1125Y exm1170369 15 65677446 [A/C] NM_020962 IGDCC4 EXON Missense_W1063L exm1170380 15 65678901 [T/C] NM_020962 IGDCC4 EXON Missense_R980H exm1170384 15 65680825 [T/C] NM_020962 IGDCC4 EXON Missense_R936H exm1170387 15 65680879 [T/C] NM_020962 IGDCC4 EXON Missense_R918Q exm1170388 15 65680886 [T/C] NM_020962 IGDCC4 EXON Missense_D916N exm1170391 15 65681151 [A/G] NM_020962 IGDCC4 EXON Missense_T901M exm1170402 15 65681640 [T/G] NM_020962 IGDCC4 EXON Missense_R840S exm1170404 15 65681648 [A/G] NM_020962 IGDCC4 EXON Missense_V837A exm1170412 15 65682635 [T/C] NM_020962 IGDCC4 EXON Missense_V756I exm1170414 15 65684226 [A/G] NM_020962 IGDCC4 EXON Missense_P739L exm1170422 15 65684513 [T/C] NM_020962 IGDCC4 EXON Missense_R694Q exm1170429 15 65684690 [T/C] NM_020962 IGDCC4 EXON Missense_E635G exm1170461 15 65687558 [T/C] NM_020962 IGDCC4 EXON Missense_D484N exm2223680 15 65687566 [A/C] NM_020962 IGDCC4 EXON Missense_V481G exm1170464 15 65687585 [T/C] NM_020962 IGDCC4 EXON Missense_V475M exm1170466 15 65688088 [A/C] NM_020962 IGDCC4 EXON Missense_G471C exm1170469 15 65688138 [A/G] NM_020962 IGDCC4 EXON Missense_M454T exm1170471 15 65688169 [A/C] NM_020962 IGDCC4 EXON Missense_A444S exm1170476 15 65688313 [T/C] NM_020962 IGDCC4 EXON Missense_G396S exm1170479 15 65689267 [T/C] NM_020962 IGDCC4 EXON Missense_N301S exm1170487 15 65693258 [T/C] NM_020962 IGDCC4 EXON Missense_D243N exm1170494 15 65694752 [T/C] NM_020962 IGDCC4 EXON Missense_V213M exm1170496 15 65694803 [T/C] NM_020962 IGDCC4 EXON Missense_V196I exm1170500 15 65702559 [T/C] NM_020962 IGDCC4 EXON Missense_I174V exm1170509 15 65703370 [T/C] NM_020962 IGDCC4 EXON Missense_V137I exm1170517 15 65703478 [A/G] NM_020962 IGDCC4 EXON Missense_P101S exm1170523 15 65703514 [A/G] NM_020962 IGDCC4 EXON Missense_P89S exm1170524 15 65703535 [T/G] NM_020962 IGDCC4 EXON Missense_H82N exm1170525 15 65703546 [T/G] NM_020962 IGDCC4 EXON Missense_T78N exm1170530 15 65703625 [C/G] NM_020962 IGDCC4 EXON Missense_A52P exm1170532 15 65703646 [T/C] NM_020962 IGDCC4 EXON Missense_V45M exm1170535 15 65703684 [A/G] NM_020962 IGDCC4 EXON Missense_T32M exm1170579 15 65756196 [T/G] NM_017743,NM_130434,NM_197960,NM_197961 DPP8,DPP8,DPP8,DPP8 EXON Missense_T625N,Missense_T625N,Missense_T641N,Missense_T641N exm1170581 15 65759057 [T/C] NM_017743,NM_130434,NM_197960,NM_197961 DPP8,DPP8,DPP8,DPP8 EXON Missense_C595Y,Missense_C595Y,Missense_C611Y,Missense_C611Y exm1837404 15 65759542 [T/C] NM_017743,NM_130434,NM_197960,NM_197961 DPP8,DPP8,DPP8,DPP8 EXON Missense_R519K,Missense_R519K,Missense_R535K,Missense_R535K exm1170594 15 65771353 [A/G] NM_017743,NM_130434,NM_197960,NM_197961 DPP8,DPP8,DPP8,DPP8 EXON Missense_P441S,Missense_P441S,Missense_P457S,Missense_P457S exm1170603 15 65772702 [T/C] NM_017743,NM_130434,NM_197960,NM_197961 DPP8,DPP8,DPP8,DPP8 EXON Missense_R385H,Missense_R385H,Missense_R401H,Missense_R401H exm1170609 15 65773944 [T/C] NM_017743,NM_130434,NM_197960,NM_197961 DPP8,DPP8,DPP8,DPP8 EXON Missense_V343I,Missense_V343I,Missense_V359I,Missense_V359I exm1170615 15 65780150 [T/C] NM_017743,NM_130434,NM_197960,NM_197961 DPP8,DPP8,DPP8,DPP8 EXON Missense_S278N,Missense_S278N,Missense_S294N,Missense_S294N exm1837420 15 65782596 [A/C] NM_017743,NM_130434,NM_197960,NM_197961 DPP8,DPP8,DPP8,DPP8 EXON Missense_A253S,Missense_A253S,Missense_A269S,Missense_A269S exm1170632 15 65792945 [A/G] NM_017743,NM_130434,NM_197960,NM_197961 DPP8,DPP8,DPP8,DPP8 EXON Missense_T182M,Missense_T182M,Missense_T198M,Missense_T198M exm1170637 15 65793114 [T/C] NM_017743,NM_130434,NM_197960,NM_197961 DPP8,DPP8,DPP8,DPP8 EXON Missense_T126A,Missense_T126A,Missense_T142A,Missense_T142A exm1170643 15 65804645 [T/C] NM_017743,NM_130434,NM_197960,NM_197961 DPP8,DPP8,DPP8,DPP8 EXON Missense_I83V,Missense_I83V,Missense_I99V,Missense_I99V exm1170652 15 65804899 [T/C] NM_017743,NM_130434,NM_197960,NM_197961 DPP8,DPP8,DPP8,DPP8 EXON Silent,Silent,Missense_K14R,Missense_K14R exm1170656 15 65808024 [T/C] NM_017743,NM_130434,NM_197960,NM_197961 DPP8,DPP8,DPP8,DPP8 EXON Silent,Silent,Missense_K3E,Missense_K3E exm1170668 15 65849087 [A/G] NM_016395 PTPLAD1 EXON Missense_K72R exm1170670 15 65851028 [A/G] NM_016395 PTPLAD1 EXON Missense_R127H exm1170676 15 65856607 [T/C] NM_016395 PTPLAD1 EXON Missense_M196T exm1170678 15 65856631 [A/G] NM_016395 PTPLAD1 EXON Missense_N204S exm1170688 15 65863917 [A/C] NM_016395 PTPLAD1 EXON Missense_M269L exm1170695 15 65864614 [A/G] NM_016395 PTPLAD1 EXON Missense_G308R exm1170699 15 65868677 [A/G] NM_016395 PTPLAD1 EXON Missense_R350H exm1170706 15 65871981 [T/C] NR_045901,NR_045105,NR_045106,NR_045107,NM_001207058,NM_001207059,NR_045104 VWA9,VWA9,VWA9,VWA9,VWA9,VWA9,VWA9 EXON Silent,Silent,Silent,Silent,Missense_R423Q,Missense_R384Q,Silent exm1170717 15 65883986 [A/G] NR_045901,NR_045105,NR_045106,NR_045107,NM_001207058,NM_001207059,NR_045104 VWA9,VWA9,VWA9,VWA9,VWA9,VWA9,VWA9 EXON Silent,Silent,Silent,Silent,Missense_P339L,Missense_P300L,Silent exm1170727 15 65890709 [T/G] NR_045901,NR_045105,NR_045106,NR_045107,NM_001207058,NM_001207059,NR_045104 VWA9,VWA9,VWA9,VWA9,VWA9,VWA9,VWA9 EXON Silent,Silent,Silent,Silent,Missense_P216H,Missense_P176H,Silent exm1170737 15 65897568 [C/G] NR_045901,NR_045105,NR_045106,NR_045107,NM_001207058,NM_001207059,NR_045104 VWA9,VWA9,VWA9,VWA9,VWA9,VWA9,VWA9 EXON Silent,Silent,Silent,Silent,Missense_L60V,Missense_L20V,Silent exm1170738 15 65897570 [C/G] NR_045901,NR_045105,NR_045106,NR_045107,NM_001207058,NM_001207059,NR_045104 VWA9,VWA9,VWA9,VWA9,VWA9,VWA9,VWA9 EXON Silent,Silent,Silent,Silent,Missense_P59R,Missense_A19G,Silent exm1170744 15 65916465 [A/G] NM_004727 SLC24A1 EXON Missense_R16Q exm1170747 15 65916527 [A/T] NM_004727 SLC24A1 EXON Missense_T37S exm1170750 15 65916612 [T/G] NM_004727 SLC24A1 EXON Missense_R65L exm1170759 15 65916899 [A/C] NM_004727 SLC24A1 EXON Missense_Q161K exm1170765 15 65917082 [A/G] NM_004727 SLC24A1 EXON Missense_D222N exm1170769 15 65917221 [T/C] NM_004727 SLC24A1 EXON Missense_V268A exm1170774 15 65917349 [C/G] NM_004727 SLC24A1 EXON Missense_V311L exm1170775 15 65917355 [T/G] NM_004727 SLC24A1 EXON Missense_L313V exm2252257 15 65917549 [T/C] NM_004727 SLC24A1 EXON Synonymous_T377T exm1170790 15 65917644 [T/C] NM_004727 SLC24A1 EXON Missense_P409L exm1170796 15 65917863 [A/G] NM_004727 SLC24A1 EXON Missense_G482D exm1170797 15 65917872 [T/C] NM_004727 SLC24A1 EXON Missense_T485I exm1170806 15 65918061 [A/G] NM_004727 SLC24A1 EXON Missense_R548Q exm1170812 15 65918240 [A/G] NM_004727 SLC24A1 EXON Missense_V608I exm1170815 15 65918277 [T/C] NM_004727 SLC24A1 EXON Missense_A620V exm1170823 15 65931951 [T/C] NM_004727 SLC24A1 EXON Nonsense_R655X exm1170825 15 65931990 [T/C] NM_004727 SLC24A1 EXON Missense_R668C exm1170832 15 65937980 [T/C] NM_004727,NM_001254740 SLC24A1,SLC24A1 EXON Missense_T724M,Missense_T51M exm1170834 15 65937992 [T/C] NM_004727,NM_001254740 SLC24A1,SLC24A1 EXON Missense_A728V,Missense_A55V exm1170854 15 65943251 [T/C] NM_004727,NM_001254740 SLC24A1,SLC24A1 EXON Missense_W922R,Missense_W249R exm1170861 15 65945013 [A/G] NM_004727,NM_001254740 SLC24A1,SLC24A1 EXON Missense_M973V,Missense_M300V exm1170875 15 65954266 [T/C] NM_001144823,NM_005848 DENND4A,DENND4A EXON Missense_S1882G,Missense_S1839G exm1170890 15 65960396 [A/G] NM_001144823,NM_005848 DENND4A,DENND4A EXON Missense_T1617I,Missense_T1574I exm1170906 15 65968870 [T/C] NM_001144823,NM_005848 DENND4A,DENND4A EXON Missense_I1427V,Missense_I1384V exm1170913 15 65982899 [A/G] NM_001144823,NM_005848 DENND4A,DENND4A EXON Missense_H1344Y,Missense_H1301Y exm2252258 15 65982966 [T/C] NM_001144823,NM_005848 DENND4A,DENND4A EXON Synonymous_R1321R,Synonymous_R1278R exm1170915 15 65982966 [T/C] NM_001144823,NM_005848 DENND4A,DENND4A EXON Synonymous_R1321R,Synonymous_R1278R exm1170918 15 65983013 [T/C] NM_001144823,NM_005848 DENND4A,DENND4A EXON Missense_T1306A,Missense_T1263A exm1837546 15 65983078 [T/G] NM_001144823,NM_005848 DENND4A,DENND4A EXON Missense_P1284Q,Missense_P1241Q exm1170921 15 65983135 [T/C] NM_001144823,NM_005848 DENND4A,DENND4A EXON Missense_R1265H,Missense_R1222H exm1170928 15 65983405 [A/C] NM_001144823,NM_005848 DENND4A,DENND4A EXON Missense_V1175G,Missense_V1132G exm1170942 15 65988709 [T/C] NM_001144823,NM_005848 DENND4A,DENND4A EXON Missense_S1025N,Missense_S982N exm1170944 15 65988751 [A/G] NM_001144823,NM_005848 DENND4A,DENND4A EXON Missense_T1011I,Missense_T968I exm1170946 15 65988785 [T/G] NM_001144823,NM_005848 DENND4A,DENND4A EXON Missense_S1000R,Missense_S957R exm2223690 15 65992924 [T/C] NM_001144823,NM_005848 DENND4A,DENND4A EXON Missense_G930S,Silent exm1170966 15 65995212 [T/C] NM_001144823,NM_005848 DENND4A,DENND4A EXON Missense_Q741R,Missense_Q741R exm1170996 15 66030189 [T/C] NM_001144823,NM_005848 DENND4A,DENND4A EXON Missense_G299E,Missense_G299E exm1171009 15 66048551 [T/C] NM_001144823,NM_005848 DENND4A,DENND4A EXON Missense_G80R,Missense_G80R exm-rs6494537 15 66051345 [T/C] NM_001144823,NM_005848 DENND4A,DENND4A Silent,Silent exm1171039 15 66191095 [A/G] NM_032445 MEGF11 EXON Missense_S982L exm1171041 15 66191119 [A/G] NM_032445 MEGF11 EXON Missense_P974L exm1171046 15 66191255 [T/C] NM_032445 MEGF11 EXON Missense_V929M exm1171052 15 66198459 [A/G] NM_032445 MEGF11 EXON Missense_R911C exm1171055 15 66206090 [T/C] NM_032445 MEGF11 EXON Missense_D899N exm1171058 15 66206143 [T/C] NM_032445 MEGF11 EXON Missense_R881Q exm1171060 15 66206161 [T/C] NM_032445 MEGF11 EXON Missense_R875Q exm1171062 15 66206204 [A/G] NM_032445 MEGF11 EXON Missense_L861F exm2274762 15 66208528 [A/C] NM_032445 MEGF11 EXON Missense_C768G exm1171075 15 66209165 [T/C] NM_032445 MEGF11 Silent exm1171081 15 66209238 [T/C] NM_032445 MEGF11 EXON Missense_G715R exm1171089 15 66214724 [T/C] NM_032445 MEGF11 EXON Missense_G637S exm1171092 15 66214785 [A/G] NM_032445 MEGF11 EXON Synonymous_H616H exm1171099 15 66215241 [C/G] NM_032445 MEGF11 EXON Missense_C581S exm1171101 15 66215247 [G/C] NM_032445 MEGF11 EXON Missense_C579S exm1171106 15 66220772 [T/C] NM_032445 MEGF11 EXON Missense_G556R exm1171108 15 66220799 [T/C] NM_032445 MEGF11 EXON Missense_V547I exm1171123 15 66223266 [T/C] NM_032445 MEGF11 EXON Missense_V435I exm1171140 15 66257408 [T/C] NM_032445 MEGF11 EXON Missense_H317R exm1171151 15 66263028 [T/C] NM_032445 MEGF11 Silent exm2272257 15 66270361 [T/C] NM_032445 MEGF11 Silent exm1171154 15 66273187 [T/G] NM_032445 MEGF11 EXON Missense_R231S exm1171159 15 66273228 [T/G] NM_032445 MEGF11 EXON Missense_E217A exm1171160 15 66274620 [T/C] NM_032445 MEGF11 EXON Missense_A201T exm1171167 15 66386785 [T/G] NM_032445 MEGF11 EXON Missense_T117P exm1171169 15 66386802 [T/C] NM_032445 MEGF11 EXON Missense_R111H exm1171172 15 66386823 [A/G] NM_032445 MEGF11 EXON Missense_T104M exm1171173 15 66411441 [T/C] NM_032445 MEGF11 EXON Missense_S95N exm1837654 15 66416237 [T/C] NM_032445 MEGF11 EXON Missense_R67Q exm1171182 15 66416298 [T/C] NM_032445 MEGF11 EXON Missense_D47N exm1171203 15 66601052 [T/G] NM_133375,NM_001143688 DIS3L,DIS3L EXON Missense_I60R,Missense_I143R exm1171204 15 66601060 [A/G] NM_133375,NM_001143688 DIS3L,DIS3L EXON Missense_A63T,Missense_A146T exm1171210 15 66604173 [T/G] NM_133375,NM_001143688 DIS3L,DIS3L EXON Nonsense_E141X,Nonsense_E224X exm1171222 15 66607400 [A/G] NM_133375,NM_001143688 DIS3L,DIS3L EXON Missense_G198R,Missense_G281R exm1171233 15 66607539 [A/G] NM_133375,NM_001143688 DIS3L,DIS3L EXON Missense_E244G,Missense_E327G exm1171234 15 66610789 [T/C] NM_133375,NM_001143688 DIS3L,DIS3L EXON Nonsense_R250X,Nonsense_R333X exm2274763 15 66610907 [A/G] NM_133375,NM_001143688 DIS3L,DIS3L EXON Missense_Y289C,Missense_Y372C exm1171241 15 66612917 [C/G] NM_133375,NM_001143688 DIS3L,DIS3L EXON Missense_R308S,Missense_R391S exm1171249 15 66613009 [A/G] NM_133375,NM_001143688 DIS3L,DIS3L EXON Missense_G339E,Missense_G422E exm1171250 15 66615043 [A/C] NM_133375,NM_001143688 DIS3L,DIS3L EXON Missense_N366H,Missense_N449H exm1171254 15 66615115 [C/G] NM_133375,NM_001143688 DIS3L,DIS3L EXON Missense_L390V,Missense_L473V exm1171256 15 66615250 [A/G] NM_133375,NM_001143688 DIS3L,DIS3L EXON Missense_I435V,Missense_I518V exm1171263 15 66618207 [T/C] NM_133375,NM_001143688 DIS3L,DIS3L EXON Missense_S486F,Missense_S569F exm1171268 15 66618342 [A/G] NM_133375,NM_001143688 DIS3L,DIS3L EXON Missense_D531G,Missense_D614G exm1837683 15 66618663 [A/G] NM_133375,NM_001143688 DIS3L,DIS3L EXON Missense_R638Q,Missense_R721Q exm1171292 15 66621346 [A/G] NM_133375,NM_001143688 DIS3L,DIS3L EXON Missense_N664S,Missense_N747S exm1171294 15 66621381 [T/C] NM_133375,NM_001143688 DIS3L,DIS3L EXON Missense_R676C,Missense_R759C exm1171295 15 66621382 [A/G] NM_133375,NM_001143688 DIS3L,DIS3L EXON Missense_R676H,Missense_R759H exm1171297 15 66621394 [T/C] NM_133375,NM_001143688 DIS3L,DIS3L EXON Missense_T680M,Missense_T763M exm1171305 15 66624260 [A/G] NM_133375,NM_001143688 DIS3L,DIS3L EXON Missense_M778I,Missense_M861I exm1171307 15 66624289 [T/A] NM_133375,NM_001143688 DIS3L,DIS3L EXON Missense_E788V,Missense_E871V exm1171308 15 66624294 [T/C] NM_133375,NM_001143688 DIS3L,DIS3L EXON Missense_R790C,Missense_R873C exm1171309 15 66624295 [A/G] NM_133375,NM_001143688 DIS3L,DIS3L EXON Missense_R790H,Missense_R873H exm1171316 15 66625140 [A/T] NM_133375,NM_001143688 DIS3L,DIS3L EXON Missense_D833E,Missense_D916E exm1171323 15 66625395 [A/C] NM_133375,NM_001143688 DIS3L,DIS3L EXON Missense_E887D,Missense_E970D exm1171326 15 66625466 [A/G] NM_133375,NM_001143688 DIS3L,DIS3L EXON Missense_S911N,Missense_S994N exm1171329 15 66625562 [A/G] NM_133375,NM_001143688 DIS3L,DIS3L EXON Missense_R943H,Missense_R1026H exm1171330 15 66625604 [T/G] NM_133375,NM_001143688 DIS3L,DIS3L EXON Missense_I957R,Missense_I1040R exm1171339 15 66629354 [A/G] NM_017858 TIPIN EXON Missense_F283S exm1171341 15 66629394 [T/C] NM_017858 TIPIN EXON Missense_N270D exm1171342 15 66629403 [A/C] NM_017858 TIPIN EXON Missense_A267S exm2223700 15 66629423 [A/G] NM_017858 TIPIN EXON Missense_L260P exm1171346 15 66633626 [A/G] NM_017858 TIPIN EXON Missense_S182P exm1171360 15 66641436 [T/C] NM_017858 TIPIN EXON Missense_D146G exm1171367 15 66641732 [C/G] NM_017858 TIPIN EXON Missense_A111G exm1171369 15 66641754 [T/C] NM_017858 TIPIN EXON Missense_I104V exm1171373 15 66644515 [A/G] NM_017858 TIPIN EXON Missense_P55L exm1171374 15 66644521 [C/G] NM_017858 TIPIN EXON Missense_R53P exm1171435 15 66786782 [C/G] NM_006049 SNAPC5 EXON Missense_D97H exm1171440 15 66787715 [G/C] NM_006049 SNAPC5 EXON Missense_G45R exm1171448 15 66790035 [A/T] NM_006049 SNAPC5 EXON Missense_E12V exm1171449 15 66790036 [T/C] NM_006049 SNAPC5 EXON Missense_E12K exm1171499 15 66793838 [T/C] NM_000968 RPL4 EXON Missense_Y184C exm2223705 15 66794169 [A/G] NM_000968 RPL4 EXON Missense_V168A exm1171554 15 66797725 [T/C] NM_017975,NR_003105 ZWILCH,ZWILCH EXON Missense_L17F,Silent exm1171566 15 66807942 [A/G] NM_017975,NR_003105 ZWILCH,ZWILCH EXON Missense_E94K,Silent exm1171573 15 66811411 [A/G] NM_017975,NR_003105 ZWILCH,ZWILCH EXON Missense_C172Y,Silent exm1171574 15 66812943 [T/C] NM_017975,NR_003105 ZWILCH,ZWILCH EXON Missense_S179F,Silent exm1171578 15 66812996 [A/G] NM_017975,NR_003105 ZWILCH,ZWILCH EXON Missense_T197A,Silent exm1171582 15 66813446 [C/G] NM_017975,NR_003105 ZWILCH,ZWILCH EXON Missense_T217R,Silent exm1171583 15 66813452 [T/C] NM_017975,NR_003105 ZWILCH,ZWILCH EXON Missense_T219I,Silent exm1171601 15 66821230 [A/G] NM_017975,NR_003105 ZWILCH,ZWILCH EXON Missense_K337R,Silent exm1171602 15 66821250 [A/G] NM_017975,NR_003105 ZWILCH,ZWILCH EXON Missense_S344G,Silent exm1171612 15 66824672 [A/G] NM_017975,NR_003105 ZWILCH,ZWILCH EXON Missense_I415V,Silent exm1171625 15 66832446 [G/C] NM_017975,NR_003105 ZWILCH,ZWILCH EXON Missense_Q529E,Silent exm1171633 15 66832550 [T/C] NM_017975,NR_003105 ZWILCH,ZWILCH Silent,Silent exm1171637 15 66838946 [G/C] NM_017975,NR_003105 ZWILCH,ZWILCH EXON Missense_L569V,Silent exm1171641 15 66840914 [T/C] NM_017975,NR_003105,NM_207338 ZWILCH,ZWILCH,LCTL EXON Silent,Silent,Missense_T540A exm1171642 15 66840941 [G/C] NM_017975,NR_003105,NM_207338 ZWILCH,ZWILCH,LCTL EXON Silent,Silent,Missense_P531A exm1171656 15 66845422 [T/C] NM_207338 LCTL EXON Missense_R366H exm1171658 15 66845438 [T/G] NM_207338 LCTL EXON Missense_S361R exm1171659 15 66845449 [T/C] NM_207338 LCTL EXON Missense_R357H exm1171668 15 66845596 [T/C] NM_207338 LCTL EXON Missense_G308E exm1171670 15 66850108 [T/C] NM_207338 LCTL EXON Missense_N292D exm1171677 15 66850220 [A/T] NM_207338 LCTL EXON Synonymous_G254G exm1171680 15 66850340 [A/G] NM_207338 LCTL EXON Missense_T247M exm1171681 15 66850362 [T/C] NM_207338 LCTL EXON Missense_A240T exm1171682 15 66850368 [T/C] NM_207338 LCTL EXON Missense_A238T exm1171689 15 66853382 [C/G] NM_207338 LCTL EXON Missense_G223R exm1171693 15 66853414 [A/G] NM_207338 LCTL EXON Missense_T212M exm1837850 15 66853583 [A/C] NM_207338 LCTL EXON Missense_L184R exm1171701 15 66855856 [T/G] NM_207338 LCTL EXON Missense_Q160K exm1171702 15 66855883 [T/C] NM_207338 LCTL EXON Missense_V151M exm1837856 15 66855936 [T/C] NM_207338 LCTL EXON Missense_E133G exm1171706 15 66855948 [T/G] NM_207338 LCTL EXON Missense_K129T exm1171709 15 66856263 [T/G] NM_207338 LCTL EXON Missense_P119H exm1171710 15 66856266 [A/G] NM_207338 LCTL EXON Missense_L118P exm1171714 15 66856306 [T/C] NM_207338 LCTL EXON Missense_V105I exm1171715 15 66856311 [A/G] NM_207338 LCTL EXON Missense_L103P exm1171723 15 66857051 [A/G] NM_207338 LCTL EXON Missense_T82M exm1171724 15 66857075 [T/A] NM_207338 LCTL EXON Missense_K74M exm1837866 15 66857095 [A/G] NM_207338 LCTL EXON Synonymous_D67D exm1171729 15 66857141 [A/G] NM_207338 LCTL EXON Missense_T52M exm1171732 15 66857612 [G/C] NM_207338 LCTL EXON Missense_S31C exm1171733 15 66857613 [A/G] NM_207338 LCTL EXON Missense_S31P exm2272258 15 66870968 [T/C] exm1171744 15 66995657 [A/G] NM_005585,NR_027654 SMAD6,SMAD6 EXON Missense_D21N,Silent exm1171745 15 66995675 [A/G] NM_005585,NR_027654 SMAD6,SMAD6 EXON Missense_S27G,Silent exm1171770 15 67004052 [A/C] NM_005585,NR_027654,NM_001142861 SMAD6,SMAD6,SMAD6 EXON Nonsense_Y288X,Silent,Nonsense_Y27X exm1171776 15 67008805 [A/C] NM_005585,NR_027654,NM_001142861 SMAD6,SMAD6,SMAD6 EXON Missense_N307K,Silent,Missense_N46K exm2272259 15 67049507 [T/C] NM_005585,NR_027654,NM_001142861 SMAD6,SMAD6,SMAD6 Silent,Silent,Silent exm1171780 15 67073338 [T/C] NM_005585,NR_027654,NM_001142861 SMAD6,SMAD6,SMAD6 EXON Missense_A319V,Silent,Missense_A58V exm1171782 15 67073355 [A/G] NM_005585,NR_027654,NM_001142861 SMAD6,SMAD6,SMAD6 EXON Missense_A325T,Silent,Missense_A64T exm1171794 15 67073566 [A/G] NM_005585,NR_027654,NM_001142861 SMAD6,SMAD6,SMAD6 EXON Missense_K395R,Silent,Missense_K134R exm1171797 15 67073638 [T/C] NM_005585,NR_027654,NM_001142861 SMAD6,SMAD6,SMAD6 EXON Missense_A419V,Silent,Missense_A158V exm2260461 15 67207563 [A/G] exm-rs17293632 15 67442596 [T/C] NM_005902,NM_001145102,NM_001145103 SMAD3,SMAD3,SMAD3 Silent,Silent,Silent exm-rs744910 15 67446785 [A/G] NM_005902,NM_001145102,NM_001145103 SMAD3,SMAD3,SMAD3 Silent,Silent,Silent exm1171851 15 67473790 [T/C] NM_005902,NM_001145102,NM_001145103,NM_001145104 SMAD3,SMAD3,SMAD3,SMAD3 EXON Synonymous_I290I,Synonymous_I185I,Synonymous_I246I,Synonymous_I95I exm1171867 15 67482818 [T/G] NM_005902,NM_001145102,NM_001145103,NM_001145104 SMAD3,SMAD3,SMAD3,SMAD3 EXON Missense_D408Y,Missense_D303Y,Missense_D364Y,Missense_D213Y exm1171878 15 67495926 [A/G] NM_001271886,NM_001271885,NM_024666 AAGAB,AAGAB,AAGAB EXON Missense_A168V,Missense_A168V,Missense_A277V exm1171887 15 67500933 [T/C] NM_001271886,NM_001271885,NM_024666 AAGAB,AAGAB,AAGAB EXON Missense_N119D,Missense_N119D,Missense_N228D exm1171888 15 67500941 [T/C] NM_001271886,NM_001271885,NM_024666 AAGAB,AAGAB,AAGAB EXON Missense_G116D,Missense_G116D,Missense_G225D exm1171891 15 67500957 [A/G] NM_001271886,NM_001271885,NM_024666 AAGAB,AAGAB,AAGAB EXON Missense_S111P,Missense_S111P,Missense_S220P exm1171895 15 67500993 [A/G] NM_001271886,NM_001271885,NM_024666 AAGAB,AAGAB,AAGAB EXON Missense_P99S,Missense_P99S,Missense_P208S exm1171910 15 67528374 [T/G] NM_001271886,NM_001271885,NM_024666 AAGAB,AAGAB,AAGAB EXON Missense_I23L,Missense_I23L,Missense_I132L exm1171913 15 67528398 [A/G] NM_001271886,NM_001271885,NM_024666 AAGAB,AAGAB,AAGAB EXON Nonsense_R15X,Nonsense_R15X,Nonsense_R124X exm1171915 15 67528778 [T/A] NM_001271886,NM_001271885,NM_024666 AAGAB,AAGAB,AAGAB EXON Missense_M1K,Missense_M1K,Missense_M110K exm1171921 15 67529071 [T/C] NM_001271886,NM_001271885,NM_024666 AAGAB,AAGAB,AAGAB EXON Silent,Silent,Missense_Y54C exm1171924 15 67529132 [T/C] NM_001271886,NM_001271885,NM_024666 AAGAB,AAGAB,AAGAB EXON Silent,Silent,Missense_V34M exm2252264 15 67546961 [A/G] NM_001271886,NM_001271885,NM_024666 AAGAB,AAGAB,AAGAB EXON Silent,Silent,Synonymous_A3A exm1171950 15 67547287 [A/T] NM_001271885,NM_022784,NM_001031715 AAGAB,IQCH,IQCH Silent,Silent,Silent exm1171954 15 67553690 [C/G] NM_022784,NM_001031715 IQCH,IQCH EXON Missense_Q44H,Missense_Q44H exm1171956 15 67555461 [T/G] NM_022784,NM_001031715 IQCH,IQCH EXON Missense_I59S,Missense_I59S exm1171959 15 67555487 [G/C] NM_022784,NM_001031715 IQCH,IQCH EXON Missense_V68L,Missense_V68L exm1171963 15 67571746 [G/C] NM_022784,NM_001031715 IQCH,IQCH EXON Missense_V95L,Missense_V95L exm1171966 15 67571819 [G/C] NM_022784,NM_001031715 IQCH,IQCH EXON Missense_S119T,Missense_S119T exm1171973 15 67596677 [T/C] NM_022784,NM_001031715 IQCH,IQCH EXON Nonsense_R130X,Silent exm1171981 15 67629335 [A/G] NM_001031715 IQCH EXON Missense_K137R exm1171983 15 67629346 [T/A] NM_001031715 IQCH EXON Missense_I141L exm1171998 15 67664499 [T/G] NM_001031715 IQCH EXON Nonsense_Y268X exm1172006 15 67664707 [A/G] NM_001031715 IQCH EXON Missense_T338A exm1172016 15 67664900 [T/C] NM_001031715 IQCH EXON Missense_I402T exm1172018 15 67664971 [T/C] NM_001031715 IQCH EXON Missense_H426Y exm1172032 15 67681252 [T/C] NM_001031715 IQCH EXON Missense_H514Y exm1172053 15 67692566 [T/C] NM_001031715 IQCH EXON Missense_Y674H exm2274764 15 67692567 [A/G] NM_001031715 IQCH EXON Missense_Y674C exm-rs7359257 15 67702907 [A/C] NM_001031715,NR_040051,NR_040052 IQCH,IQCH-AS1,IQCH-AS1 Silent,Silent,Silent exm1172057 15 67709344 [T/C] NM_001031715,NR_040051,NR_040052 IQCH,IQCH-AS1,IQCH-AS1 EXON Missense_R725W,Silent,Silent exm1172061 15 67713634 [A/G] NM_001031715,NR_040051,NR_040052 IQCH,IQCH-AS1,IQCH-AS1 EXON Missense_V742M,Silent,Silent exm1172065 15 67713701 [A/G] NM_001031715,NR_040051,NR_040052 IQCH,IQCH-AS1,IQCH-AS1 EXON Missense_N764S,Silent,Silent exm1172066 15 67713703 [A/G] NM_001031715,NR_040051,NR_040052 IQCH,IQCH-AS1,IQCH-AS1 EXON Missense_G765R,Silent,Silent exm1172067 15 67713715 [A/G] NM_001031715,NR_040051,NR_040052 IQCH,IQCH-AS1,IQCH-AS1 EXON Missense_V769M,Silent,Silent exm2275396 15 67713781 [T/C] NM_001031715,NR_040051,NR_040052 IQCH,IQCH-AS1,IQCH-AS1 EXON Nonsense_Q791X,Silent,Silent exm1172080 15 67757580 [A/G] NM_001031715,NR_040051,NR_040052 IQCH,IQCH-AS1,IQCH-AS1 EXON Missense_R874H,Silent,Silent exm1172082 15 67757607 [T/C] NM_001031715,NR_040051,NR_040052 IQCH,IQCH-AS1,IQCH-AS1 EXON Missense_T883I,Silent,Silent exm1172085 15 67768036 [A/G] NM_001031715,NR_040051,NR_040052 IQCH,IQCH-AS1,IQCH-AS1 EXON Missense_M893I,Silent,Silent exm1172086 15 67768050 [A/G] NM_001031715,NR_040051,NR_040052 IQCH,IQCH-AS1,IQCH-AS1 EXON Missense_R898H,Silent,Silent exm1172087 15 67768084 [G/C] NM_001031715,NR_040051,NR_040052 IQCH,IQCH-AS1,IQCH-AS1 EXON Missense_S909R,Silent,Silent exm1172089 15 67768151 [C/G] NM_001031715,NR_040051,NR_040052 IQCH,IQCH-AS1,IQCH-AS1 EXON Missense_V932L,Silent,Silent exm2267780 15 67774033 [A/G] NM_001031715,NR_040051,NR_040052 IQCH,IQCH-AS1,IQCH-AS1 Silent,Silent,Silent exm1172102 15 67813864 [T/C] NR_040051,NR_040052,NR_040054,NM_001143936 IQCH-AS1,IQCH-AS1,IQCH-AS1,C15orf61 EXON Silent,Silent,Silent,Missense_S93F exm1172103 15 67818797 [T/G] NM_001143936 C15orf61 EXON Missense_A130S exm1172124 15 67873149 [T/A] NM_002757,NM_145160,NM_001206804 MAP2K5,MAP2K5,MAP2K5 EXON Missense_I104L,Missense_I104L,Missense_I68L exm1172130 15 67879194 [A/G] NM_002757,NM_145160,NM_001206804 MAP2K5,MAP2K5,MAP2K5 EXON Missense_R125Q,Missense_R125Q,Missense_R89Q exm1838003 15 67893087 [A/G] NM_002757,NM_145160,NM_001206804 MAP2K5,MAP2K5,MAP2K5 EXON Missense_K182R,Missense_K182R,Missense_K146R exm1172160 15 67984818 [T/C] NM_002757,NM_145160,NM_001206804 MAP2K5,MAP2K5,MAP2K5 EXON Synonymous_D283D,Synonymous_D283D,Synonymous_D247D exm2223713 15 67995676 [A/C] NM_002757,NM_145160,NM_001206804 MAP2K5,MAP2K5,MAP2K5 EXON Missense_P325H,Missense_P325H,Missense_P289H exm-rs12593813 15 68036852 [A/G] NM_002757,NM_145160,NM_001206804 MAP2K5,MAP2K5,MAP2K5 Silent,Silent,Silent exm-rs4489954 15 68072075 [T/G] NM_002757,NM_145160,NM_001206804 MAP2K5,MAP2K5,MAP2K5 Silent,Silent,Silent exm-rs2241423 15 68086838 [A/G] NM_002757,NM_145160,NM_001206804 MAP2K5,MAP2K5,MAP2K5 Silent,Silent,Silent exm2267781 15 68095085 [A/G] NM_002757,NM_145160,NM_001206804 MAP2K5,MAP2K5,MAP2K5 Silent,Silent,Silent exm1838020 15 68099074 [G/C] NM_002757,NM_145160,NM_001206804 MAP2K5,MAP2K5,MAP2K5 EXON Missense_Q435E,Missense_Q445E,Missense_Q409E exm1172197 15 68117995 [T/C] NM_001258024 SKOR1 Silent exm1172202 15 68118338 [A/G] NM_001258024 SKOR1 EXON Missense_N244D exm1172228 15 68119427 [C/G] NM_001258024 SKOR1 EXON Missense_G528R exm1172230 15 68119596 [G/C] NM_001258024 SKOR1 Silent exm1172251 15 68120354 [T/C] NM_001258024 SKOR1 EXON Missense_R633W exm1172276 15 68125577 [A/G] NM_001258024 SKOR1 EXON Missense_I832V exm-rs448720 15 68198911 [T/C] exm1172295 15 68378896 [A/G] NM_016166 PIAS1 EXON Missense_T93A exm2264577 15 68444672 [A/C] NM_016166 PIAS1 Silent exm1172315 15 68468845 [T/C] NM_016166 PIAS1 EXON Missense_A445V exm1172332 15 68486353 [T/C] NM_033429,NM_001031733 CALML4,CALML4 EXON Missense_X197W,Missense_X150W exm1172338 15 68489808 [A/T] NM_033429,NM_001031733 CALML4,CALML4 EXON Missense_S155C,Missense_S108C exm1172339 15 68489810 [T/G] NM_033429,NM_001031733 CALML4,CALML4 EXON Missense_T154K,Missense_T107K exm1172340 15 68489822 [T/C] NM_033429,NM_001031733 CALML4,CALML4 EXON Missense_R150Q,Missense_R103Q exm2252266 15 68491886 [A/G] NM_033429,NM_001031733 CALML4,CALML4 EXON Synonymous_H99H,Silent exm1172355 15 68492008 [A/G] NM_033429,NM_001031733 CALML4,CALML4 EXON Missense_C59R,Silent exm1172360 15 68497597 [A/G] NM_033429,NM_001031733 CALML4,CALML4 EXON Nonsense_R40X,Nonsense_R40X exm1172364 15 68497632 [T/C] NM_033429,NM_001031733 CALML4,CALML4 EXON Missense_R28H,Missense_R28H exm1172365 15 68497633 [A/G] NM_033429,NM_001031733 CALML4,CALML4 EXON Missense_R28C,Missense_R28C exm1172375 15 68500639 [T/C] NM_017882 CLN6 EXON Missense_G259S exm1172376 15 68500645 [T/C] NM_017882 CLN6 EXON Missense_S257G exm1172379 15 68500660 [A/G] NM_017882 CLN6 EXON Missense_R252C exm1172404 15 68504171 [A/G] NM_017882 CLN6 EXON Missense_R110C exm1172410 15 68506647 [A/G] NM_017882 CLN6 EXON Missense_T93M exm1172415 15 68506711 [C/G] NM_017882 CLN6 EXON Missense_E72Q exm1172424 15 68510972 [T/C] NM_017882 CLN6 EXON Missense_A34T exm2252267 15 68570794 [T/C] NM_015322 FEM1B EXON Synonymous_S13S exm1172434 15 68570794 [T/C] NM_015322 FEM1B EXON Synonymous_S13S exm1172448 15 68582325 [A/G] NM_015322 FEM1B EXON Missense_R210H exm1172454 15 68582420 [A/G] NM_015322 FEM1B EXON Missense_A242T exm1838118 15 68583513 [A/G] NM_015322 FEM1B EXON Missense_R606Q exm1172493 15 68596162 [A/C] NM_001004439 ITGA11 EXON Missense_S1148I exm1172497 15 68596203 [A/C] NM_001004439 ITGA11 EXON Missense_K1134N exm1172501 15 68599950 [T/C] NM_001004439 ITGA11 EXON Missense_N1087D exm1838125 15 68599961 [T/C] NM_001004439 ITGA11 EXON Missense_H1083R exm1172507 15 68603345 [T/C] NM_001004439 ITGA11 EXON Missense_R1054H exm1172511 15 68603375 [T/C] NM_001004439 ITGA11 EXON Missense_R1044Q exm1172526 15 68605133 [A/G] NM_001004439 ITGA11 EXON Missense_P984L exm1172529 15 68605169 [A/G] NM_001004439 ITGA11 EXON Missense_P972L exm1172534 15 68606120 [A/G] NM_001004439 ITGA11 EXON Missense_T960I exm1172535 15 68606130 [T/C] NM_001004439 ITGA11 EXON Missense_V957I exm1172539 15 68606169 [T/C] NM_001004439 ITGA11 EXON Missense_V944M exm1172545 15 68607992 [A/C] NM_001004439 ITGA11 EXON Missense_G930V exm1172547 15 68607999 [T/C] NM_001004439 ITGA11 EXON Missense_A928T exm1172549 15 68609616 [T/C] NM_001004439 ITGA11 EXON Missense_R901Q exm1172552 15 68609647 [T/G] NM_001004439 ITGA11 EXON Missense_Q891K exm1172553 15 68609668 [A/C] NM_001004439 ITGA11 EXON Nonsense_E884X exm1172558 15 68612545 [T/C] NM_001004439 ITGA11 EXON Missense_Q865R exm1172561 15 68612563 [A/G] NM_001004439 ITGA11 EXON Missense_S859L exm1172565 15 68612677 [A/G] NM_001004439 ITGA11 EXON Missense_T821M exm1172570 15 68612714 [T/C] NM_001004439 ITGA11 EXON Missense_V809M exm1172587 15 68619069 [T/C] NM_001004439 ITGA11 EXON Missense_G712R exm1172591 15 68619114 [T/C] NM_001004439 ITGA11 EXON Missense_M697V exm1172610 15 68624378 [A/G] NM_001004439 ITGA11 EXON Missense_T530M exm1172611 15 68624396 [A/C] NM_001004439 ITGA11 EXON Missense_L524R exm1172613 15 68624693 [T/C] NM_001004439 ITGA11 EXON Missense_V517I exm1172618 15 68624762 [T/C] NM_001004439 ITGA11 EXON Missense_V494M exm1172626 15 68628049 [T/G] NM_001004439 ITGA11 EXON Missense_M471L exm1172627 15 68628072 [T/C] NM_001004439 ITGA11 EXON Missense_R463Q exm1172631 15 68628163 [T/C] NM_001004439 ITGA11 EXON Missense_V433M exm-rs12442156 15 68628636 [T/C] NM_001004439 ITGA11 Silent exm1172633 15 68631894 [T/C] NM_001004439 ITGA11 EXON Missense_R407H exm2267782 15 68640452 [A/G] NM_001004439 ITGA11 Silent exm1172665 15 68643660 [A/C] NM_001004439 ITGA11 EXON Missense_S277I exm1172667 15 68643740 [C/G] NM_001004439 ITGA11 EXON Synonymous_R250R exm1172670 15 68649516 [T/C] NM_001004439 ITGA11 EXON Missense_R241Q exm1172672 15 68649574 [T/C] NM_001004439 ITGA11 EXON Missense_V222I exm1172678 15 68653946 [T/C] NM_001004439 ITGA11 EXON Missense_V152M exm1172687 15 68657074 [T/C] NM_001004439 ITGA11 EXON Missense_A110T exm1838209 15 68657091 [A/C] NM_001004439 ITGA11 EXON Missense_R104L exm1172690 15 68657116 [T/C] NM_001004439 ITGA11 EXON Missense_V96M exm-rs7164335 15 68715032 [A/G] NM_001004439 ITGA11 Silent exm-rs1445021 15 68735586 [A/G] exm-rs11856323 15 68892989 [T/C] NM_006091 CORO2B Silent exm1172722 15 68937661 [A/G] NM_006091,NM_001190456,NM_001190457 CORO2B,CORO2B,CORO2B EXON Missense_A60T,Missense_A55T,Missense_A55T exm1172726 15 68987594 [T/C] NM_006091,NM_001190456,NM_001190457 CORO2B,CORO2B,CORO2B EXON Missense_S111L,Missense_S106L,Missense_S106L exm1172737 15 69003978 [T/A] NM_006091,NM_001190456,NM_001190457 CORO2B,CORO2B,CORO2B EXON Missense_L194Q,Missense_L189Q,Missense_L189Q exm1172764 15 69011847 [A/G] NM_006091,NM_001190456,NM_001190457 CORO2B,CORO2B,CORO2B EXON Missense_G423R,Missense_G418R,Missense_G418R exm1172767 15 69011887 [A/G] NM_006091,NM_001190456,NM_001190457 CORO2B,CORO2B,CORO2B EXON Missense_N436S,Missense_N431S,Missense_N431S exm1172773 15 69018309 [A/G] NM_006091,NM_001190456,NM_001190457 CORO2B,CORO2B,CORO2B EXON Missense_C480Y,Missense_C475Y,Missense_C475Y exm-rs8030672 15 69059084 [A/T] exm2267842 15 69100577 [A/G] NM_006305 ANP32A Silent exm1172808 15 69238145 [C/G] NR_031680,NM_001184780,NM_145658,NR_033672,NR_033671 MIR548H4,NOX5,SPESP1,NOX5,NOX5 EXON Silent,Silent,Missense_T91S,Silent,Silent exm1172820 15 69238272 [T/G] NR_031680,NM_001184780,NM_145658,NR_033672,NR_033671 MIR548H4,NOX5,SPESP1,NOX5,NOX5 EXON Silent,Silent,Missense_L133F,Silent,Silent exm1172821 15 69238285 [A/C] NR_031680,NM_001184780,NM_145658,NR_033672,NR_033671 MIR548H4,NOX5,SPESP1,NOX5,NOX5 EXON Silent,Silent,Missense_P138T,Silent,Silent exm1172826 15 69238445 [A/G] NR_031680,NM_001184780,NM_145658,NR_033672,NR_033671 MIR548H4,NOX5,SPESP1,NOX5,NOX5 EXON Silent,Silent,Missense_G191E,Silent,Silent exm1172834 15 69238571 [T/G] NR_031680,NM_001184780,NM_145658,NR_033672,NR_033671 MIR548H4,NOX5,SPESP1,NOX5,NOX5 EXON Silent,Silent,Missense_I233S,Silent,Silent exm2276945 15 69238660 [A/C] NR_031680,NM_001184780,NM_145658,NR_033672,NR_033671 MIR548H4,NOX5,SPESP1,NOX5,NOX5 EXON Silent,Silent,Synonymous_R263R,Silent,Silent exm1172843 15 69238735 [T/C] NR_031680,NM_001184780,NM_145658,NR_033672,NR_033671 MIR548H4,NOX5,SPESP1,NOX5,NOX5 EXON Silent,Silent,Nonsense_R288X,Silent,Silent exm1838259 15 69238924 [T/G] NR_031680,NM_001184780,NM_145658,NR_033672,NR_033671 MIR548H4,NOX5,SPESP1,NOX5,NOX5 EXON Silent,Silent,Missense_X351E,Silent,Silent exm1172849 15 69318947 [A/G] NR_031680,NM_001184780,NR_033672,NR_033671,NM_024505,NM_001184779 MIR548H4,NOX5,NOX5,NOX5,NOX5,NOX5 EXON Silent,Missense_E37K,Silent,Silent,Missense_E44K,Missense_E44K exm1172852 15 69320576 [T/C] NR_031680,NM_001184780,NR_033672,NR_033671,NM_024505,NM_001184779 MIR548H4,NOX5,NOX5,NOX5,NOX5,NOX5 EXON Silent,Missense_F59L,Silent,Silent,Missense_F66L,Missense_F66L exm1172853 15 69320601 [A/G] NR_031680,NM_001184780,NR_033672,NR_033671,NM_024505,NM_001184779 MIR548H4,NOX5,NOX5,NOX5,NOX5,NOX5 EXON Silent,Missense_S67N,Silent,Silent,Missense_S74N,Missense_S74N exm1172858 15 69320663 [A/G] NR_031680,NM_001184780,NR_033672,NR_033671,NM_024505,NM_001184779 MIR548H4,NOX5,NOX5,NOX5,NOX5,NOX5 EXON Silent,Missense_M88V,Silent,Silent,Missense_M95V,Missense_M95V exm1172859 15 69320664 [A/T] NR_031680,NM_001184780,NR_033672,NR_033671,NM_024505,NM_001184779 MIR548H4,NOX5,NOX5,NOX5,NOX5,NOX5 EXON Silent,Missense_M88K,Silent,Silent,Missense_M95K,Missense_M95K exm1172860 15 69320670 [T/A] NR_031680,NM_001184780,NR_033672,NR_033671,NM_024505,NM_001184779 MIR548H4,NOX5,NOX5,NOX5,NOX5,NOX5 EXON Silent,Missense_K90I,Silent,Silent,Missense_K97I,Missense_K97I exm1172867 15 69323959 [C/G] NR_031680,NM_001184780,NR_033672,NR_033671,NM_024505,NM_001184779 MIR548H4,NOX5,NOX5,NOX5,NOX5,NOX5 EXON Silent,Missense_P108A,Silent,Silent,Missense_P143A,Missense_P115A exm1172868 15 69323969 [T/C] NR_031680,NM_001184780,NR_033672,NR_033671,NM_024505,NM_001184779 MIR548H4,NOX5,NOX5,NOX5,NOX5,NOX5 EXON Silent,Missense_L111P,Silent,Silent,Missense_L146P,Missense_L118P exm1172885 15 69325529 [T/C] NR_031680,NM_001184780,NR_033672,NR_033671,NM_024505,NM_001184779 MIR548H4,NOX5,NOX5,NOX5,NOX5,NOX5 EXON Silent,Missense_A221V,Silent,Silent,Missense_A256V,Missense_A228V exm1172889 15 69325606 [A/C] NR_031680,NM_001184780,NR_033672,NR_033671,NM_024505,NM_001184779 MIR548H4,NOX5,NOX5,NOX5,NOX5,NOX5 EXON Silent,Missense_S247R,Silent,Silent,Missense_S282R,Missense_S254R exm1172891 15 69327727 [T/C] NR_031680,NM_001184780,NR_033672,NR_033671,NM_024505,NM_001184779 MIR548H4,NOX5,NOX5,NOX5,NOX5,NOX5 EXON Silent,Missense_R262W,Silent,Silent,Missense_R297W,Missense_R269W exm1172893 15 69327737 [A/G] NR_031680,NM_001184780,NR_033672,NR_033671,NM_024505,NM_001184779 MIR548H4,NOX5,NOX5,NOX5,NOX5,NOX5 EXON Silent,Nonsense_W265X,Silent,Silent,Nonsense_W300X,Nonsense_W272X exm1172898 15 69328112 [A/G] NR_031680,NM_001184780,NR_033672,NR_033671,NM_024505,NM_001184779 MIR548H4,NOX5,NOX5,NOX5,NOX5,NOX5 EXON Silent,Missense_A307T,Silent,Silent,Missense_A342T,Missense_A314T exm1172901 15 69328155 [T/C] NR_031680,NM_001184780,NR_033672,NR_033671,NM_024505,NM_001184779 MIR548H4,NOX5,NOX5,NOX5,NOX5,NOX5 EXON Silent,Missense_T321M,Silent,Silent,Missense_T356M,Missense_T328M exm1172903 15 69328226 [T/C] NR_031680,NM_001184780,NR_033672,NR_033671,NM_024505,NM_001184779 MIR548H4,NOX5,NOX5,NOX5,NOX5,NOX5 EXON Silent,Missense_L345F,Silent,Silent,Missense_L380F,Missense_L352F exm1172908 15 69329390 [T/C] NR_031680,NM_001184780,NR_033672,NR_033671,NM_024505,NM_001184779 MIR548H4,NOX5,NOX5,NOX5,NOX5,NOX5 EXON Silent,Missense_S369F,Silent,Silent,Missense_S404F,Missense_S376F exm1172910 15 69329401 [A/G] NR_031680,NM_001184780,NR_033672,NR_033671,NM_024505,NM_001184779 MIR548H4,NOX5,NOX5,NOX5,NOX5,NOX5 EXON Silent,Missense_V373M,Silent,Silent,Missense_V408M,Missense_V380M exm1172916 15 69329515 [A/G] NR_031680,NM_001184780,NR_033672,NR_033671,NM_024505,NM_001184779 MIR548H4,NOX5,NOX5,NOX5,NOX5,NOX5 EXON Silent,Missense_V411M,Silent,Silent,Missense_V446M,Missense_V418M exm1172920 15 69331196 [A/G] NR_031680,NM_001184780,NR_033672,NR_033671,NM_024505,NM_001184779 MIR548H4,NOX5,NOX5,NOX5,NOX5,NOX5 Silent,Silent,Silent,Silent,Silent,Silent exm1172923 15 69331221 [A/C] NR_031680,NM_001184780,NR_033672,NR_033671,NM_024505,NM_001184779 MIR548H4,NOX5,NOX5,NOX5,NOX5,NOX5 EXON Silent,Missense_P431T,Silent,Silent,Missense_P466T,Missense_P438T exm1172927 15 69331285 [A/G] NR_031680,NM_001184780,NR_033672,NR_033671,NM_024505,NM_001184779 MIR548H4,NOX5,NOX5,NOX5,NOX5,NOX5 EXON Silent,Missense_Y452C,Silent,Silent,Missense_Y487C,Missense_Y459C exm1172928 15 69331328 [A/G] NR_031680,NM_001184780,NR_033672,NR_033671,NM_024505,NM_001184779 MIR548H4,NOX5,NOX5,NOX5,NOX5,NOX5 EXON Silent,Synonymous_K466K,Silent,Silent,Synonymous_K501K,Synonymous_K473K exm1172930 15 69335001 [A/G] NR_031680,NM_001184780,NR_033672,NR_033671,NM_024505,NM_001184779 MIR548H4,NOX5,NOX5,NOX5,NOX5,NOX5 Silent,Silent,Silent,Silent,Silent,Silent exm1172933 15 69335087 [A/G] NR_031680,NM_001184780,NR_033672,NR_033671,NM_024505,NM_001184779 MIR548H4,NOX5,NOX5,NOX5,NOX5,NOX5 EXON Silent,Missense_R495H,Silent,Silent,Missense_R530H,Missense_R502H exm1172940 15 69339787 [A/G] NR_031680,NM_001184780,NR_033672,NR_033671,NM_024505,NM_001184779 MIR548H4,NOX5,NOX5,NOX5,NOX5,NOX5 EXON Silent,Missense_R541H,Silent,Silent,Missense_R576H,Missense_R548H exm1172945 15 69339834 [A/G] NR_031680,NM_001184780,NR_033672,NR_033671,NM_024505,NM_001184779 MIR548H4,NOX5,NOX5,NOX5,NOX5,NOX5 EXON Silent,Missense_G557S,Silent,Silent,Missense_G592S,Missense_G564S exm1172947 15 69340168 [A/T] NR_031680,NM_001184780,NR_033672,NR_033671,NM_024505,NM_001184779 MIR548H4,NOX5,NOX5,NOX5,NOX5,NOX5 Silent,Silent,Silent,Silent,Silent,Silent exm1172949 15 69340183 [A/G] NR_031680,NM_001184780,NR_033672,NR_033671,NM_024505,NM_001184779 MIR548H4,NOX5,NOX5,NOX5,NOX5,NOX5 EXON Silent,Missense_K576E,Silent,Silent,Missense_K611E,Missense_K583E exm1172957 15 69341330 [A/G] NR_031680,NM_001184780,NR_033672,NR_033671,NM_024505,NM_001184779 MIR548H4,NOX5,NOX5,NOX5,NOX5,NOX5 EXON Silent,Missense_R609Q,Silent,Silent,Missense_R644Q,Missense_R616Q exm1172960 15 69347675 [T/C] NR_031680,NM_001184780,NR_033672,NR_033671,NM_024505,NM_001184779 MIR548H4,NOX5,NOX5,NOX5,NOX5,NOX5 EXON Silent,Synonymous_G632G,Silent,Silent,Synonymous_G667G,Synonymous_G639G exm1172965 15 69347771 [A/C] NR_031680,NM_001184780,NR_033672,NR_033671,NM_024505,NM_001184779 MIR548H4,NOX5,NOX5,NOX5,NOX5,NOX5 EXON Silent,Missense_N664K,Silent,Silent,Missense_N699K,Missense_N671K exm1172976 15 69348942 [T/C] NR_031680,NM_001184780,NR_033672,NR_033671,NM_024505,NM_001184779 MIR548H4,NOX5,NOX5,NOX5,NOX5,NOX5 EXON Silent,Missense_V700A,Silent,Silent,Missense_V735A,Missense_V707A exm1172977 15 69349013 [A/G] NR_031680,NM_001184780,NR_033672,NR_033671,NM_024505,NM_001184779 MIR548H4,NOX5,NOX5,NOX5,NOX5,NOX5 EXON Silent,Missense_R724G,Silent,Silent,Missense_R759G,Missense_R731G exm2252270 15 69381742 [A/G] NR_031680,NR_026949 MIR548H4,LINC00277 Silent,Silent exm1172993 15 69548338 [A/G] NM_015554 GLCE EXON Missense_M65V exm1172996 15 69548389 [T/C] NM_015554 GLCE EXON Nonsense_Q82X exm1172997 15 69548393 [A/G] NM_015554 GLCE EXON Missense_K83R exm1172998 15 69548395 [A/G] NM_015554 GLCE EXON Missense_A84T exm1173003 15 69548597 [A/G] NM_015554 GLCE EXON Missense_R151Q exm1173020 15 69560870 [A/G] NM_015554 GLCE EXON Missense_V381I exm1173021 15 69560919 [G/C] NM_015554 GLCE EXON Missense_S397C exm1173024 15 69561086 [A/G] NM_015554 GLCE EXON Missense_T453A exm1173031 15 69561200 [A/G] NM_015554 GLCE EXON Missense_M491V exm1173038 15 69561518 [A/G] NM_015554 GLCE EXON Missense_V597I exm1173039 15 69561564 [A/G] NM_015554 GLCE EXON Missense_S612N exm1173046 15 69652439 [G/C] NM_017705,NM_001104554 PAQR5,PAQR5 EXON Missense_P7R,Missense_P7R exm1173050 15 69652451 [A/G] NM_017705,NM_001104554 PAQR5,PAQR5 EXON Missense_S11N,Missense_S11N exm1173065 15 69682050 [T/C] NM_017705,NM_001104554 PAQR5,PAQR5 EXON Missense_F148S,Missense_F148S exm1173079 15 69692455 [T/G] NM_017705,NM_001104554 PAQR5,PAQR5 Silent,Silent exm1173088 15 69696123 [T/C] NM_017705,NM_001104554 PAQR5,PAQR5 EXON Missense_R319W,Missense_R319W exm1173097 15 69708397 [A/G] NM_138555,NM_004856 KIF23,KIF23 EXON Missense_V26I,Missense_V26I exm1173102 15 69709740 [A/C] NM_138555,NM_004856 KIF23,KIF23 EXON Missense_P34T,Missense_P34T exm1173104 15 69709783 [A/G] NM_138555,NM_004856 KIF23,KIF23 EXON Missense_N48S,Missense_N48S exm1173106 15 69709792 [T/C] NM_138555,NM_004856 KIF23,KIF23 EXON Missense_T51I,Missense_T51I exm1173110 15 69714005 [A/G] NM_138555,NM_004856 KIF23,KIF23 EXON Missense_Q77R,Missense_Q77R exm1173112 15 69714049 [C/G] NM_138555,NM_004856 KIF23,KIF23 EXON Missense_V92L,Missense_V92L exm1173113 15 69714068 [A/G] NM_138555,NM_004856 KIF23,KIF23 EXON Missense_N98S,Missense_N98S exm1173115 15 69714088 [A/T] NM_138555,NM_004856 KIF23,KIF23 EXON Missense_N105Y,Missense_N105Y exm1173119 15 69714708 [A/C] NM_138555,NM_004856 KIF23,KIF23 EXON Missense_E166A,Missense_E166A exm1173128 15 69715624 [A/G] NM_138555,NM_004856 KIF23,KIF23 EXON Missense_I230M,Missense_I230M exm1838345 15 69728061 [A/G] NM_138555,NM_004856 KIF23,KIF23 EXON Missense_R408Q,Missense_R408Q exm2223731 15 69728069 [A/G] NM_138555,NM_004856 KIF23,KIF23 EXON Missense_V411M,Missense_V411M exm2252272 15 69728976 [T/C] NM_138555,NM_004856 KIF23,KIF23 EXON Synonymous_D490D,Synonymous_D490D exm1173154 15 69728976 [T/C] NM_138555,NM_004856 KIF23,KIF23 EXON Synonymous_D490D,Synonymous_D490D exm1173156 15 69729049 [T/C] NM_138555,NM_004856 KIF23,KIF23 EXON Missense_F515L,Missense_F515L exm1173170 15 69733263 [C/G] NM_138555,NM_004856 KIF23,KIF23 EXON Missense_V742L,Silent exm1173174 15 69733320 [A/G] NM_138555,NM_004856 KIF23,KIF23 EXON Missense_V761M,Silent exm1173184 15 69737350 [T/C] NM_138555,NM_004856 KIF23,KIF23 EXON Synonymous_S867S,Synonymous_S763S exm2252273 15 69737350 [T/C] NM_138555,NM_004856 KIF23,KIF23 EXON Synonymous_S867S,Synonymous_S763S exm2260464 15 69888378 [A/C] exm-rs17374222 15 69995344 [A/C] exm-rs4776472 15 70006873 [A/G] exm-rs7176508 15 70018990 [A/G] exm-rs10152591 15 70048157 [A/C] exm2272260 15 70104713 [T/C] exm-rs1349679 15 70179400 [T/C] exm2267784 15 70208373 [A/G] exm1173220 15 70343765 [T/C] NM_020908,NM_001105192,NM_005078 TLE3,TLE3,TLE3 EXON Missense_A714T,Missense_A723T,Missense_A726T exm1173245 15 70347482 [A/G] NM_020908,NM_001105192,NM_005078 TLE3,TLE3,TLE3 EXON Missense_T486M,Missense_T495M,Missense_T498M exm1173290 15 70358365 [A/G] NM_020908,NM_001105192,NM_005078 TLE3,TLE3,TLE3 EXON Missense_L189F,Missense_L189F,Missense_L189F exm1173292 15 70358394 [A/G] NM_020908,NM_001105192,NM_005078 TLE3,TLE3,TLE3 EXON Missense_T179M,Missense_T179M,Missense_T179M exm-rs975210 15 70364352 [A/G] NM_020908,NM_001105192,NM_005078 TLE3,TLE3,TLE3 Silent,Silent,Silent exm1173305 15 70368470 [T/C] NM_020908,NM_001105192,NM_005078 TLE3,TLE3,TLE3 EXON Missense_I88V,Missense_I88V,Missense_I88V exm2260465 15 70774693 [T/C] exm2267785 15 70899256 [A/G] exm1173329 15 70949415 [A/G] NM_001008224,NM_018003 UACA,UACA EXON Missense_R1398W,Missense_R1411W exm1173330 15 70949424 [T/C] NM_001008224,NM_018003 UACA,UACA EXON Missense_I1395V,Missense_I1408V exm1173336 15 70957001 [A/G] NM_001008224,NM_018003 UACA,UACA EXON Synonymous_A1358A,Synonymous_A1371A exm1173342 15 70957094 [T/G] NM_001008224,NM_018003 UACA,UACA EXON Missense_Q1327H,Missense_Q1340H exm1173345 15 70957107 [T/C] NM_001008224,NM_018003 UACA,UACA EXON Missense_N1323S,Missense_N1336S exm1173346 15 70957117 [G/C] NM_001008224,NM_018003 UACA,UACA EXON Missense_Q1320E,Missense_Q1333E exm1173349 15 70959149 [A/G] NM_001008224,NM_018003 UACA,UACA EXON Nonsense_R1279X,Nonsense_R1292X exm1173354 15 70959265 [T/G] NM_001008224,NM_018003 UACA,UACA EXON Missense_K1240T,Missense_K1253T exm1173356 15 70959422 [A/C] NM_001008224,NM_018003 UACA,UACA EXON Missense_V1188F,Missense_V1201F exm1173373 15 70959803 [A/C] NM_001008224,NM_018003 UACA,UACA EXON Missense_D1061Y,Missense_D1074Y exm1173377 15 70959823 [T/G] NM_001008224,NM_018003 UACA,UACA EXON Missense_E1054A,Missense_E1067A exm1173380 15 70959871 [A/G] NM_001008224,NM_018003 UACA,UACA EXON Missense_I1038T,Missense_I1051T exm1173383 15 70960033 [T/C] NM_001008224,NM_018003 UACA,UACA EXON Missense_K984R,Missense_K997R exm1838458 15 70960058 [T/C] NM_001008224,NM_018003 UACA,UACA EXON Missense_V976I,Missense_V989I exm1173393 15 70960222 [A/G] NM_001008224,NM_018003 UACA,UACA EXON Missense_S921L,Missense_S934L exm1838460 15 70960282 [A/G] NM_001008224,NM_018003 UACA,UACA EXON Missense_T901I,Missense_T914I exm1838461 15 70960331 [T/C] NM_001008224,NM_018003 UACA,UACA EXON Missense_V885I,Missense_V898I exm1173399 15 70960352 [T/C] NM_001008224,NM_018003 UACA,UACA EXON Missense_E878K,Missense_E891K exm2223735 15 70960534 [A/T] NM_001008224,NM_018003 UACA,UACA EXON Missense_L817H,Missense_L830H exm1838462 15 70960558 [T/G] NM_001008224,NM_018003 UACA,UACA EXON Missense_E809A,Missense_E822A exm1173410 15 70960565 [T/C] NM_001008224,NM_018003 UACA,UACA EXON Missense_I807V,Missense_I820V exm1173411 15 70960579 [T/G] NM_001008224,NM_018003 UACA,UACA EXON Missense_A802D,Missense_A815D exm2223736 15 70960582 [A/G] NM_001008224,NM_018003 UACA,UACA EXON Missense_I801T,Missense_I814T exm1173415 15 70960685 [A/T] NM_001008224,NM_018003 UACA,UACA EXON Missense_L767M,Missense_L780M exm1173418 15 70960730 [T/G] NM_001008224,NM_018003 UACA,UACA EXON Missense_N752H,Missense_N765H exm1173425 15 70960919 [G/C] NM_001008224,NM_018003 UACA,UACA EXON Missense_G689R,Missense_G702R exm1838465 15 70960979 [C/G] NM_001008224,NM_018003 UACA,UACA EXON Missense_V669L,Missense_V682L exm1173439 15 70961254 [T/C] NM_001008224,NM_018003 UACA,UACA EXON Missense_R577Q,Missense_R590Q exm1838469 15 70961435 [T/C] NM_001008224,NM_018003 UACA,UACA EXON Missense_E517K,Missense_E530K exm1173453 15 70961649 [T/G] NM_001008224,NM_018003 UACA,UACA EXON Missense_Q445H,Missense_Q458H exm1838472 15 70961722 [A/G] NM_001008224,NM_018003 UACA,UACA EXON Missense_T421M,Missense_T434M exm1173457 15 70963392 [T/C] NM_001008224,NM_018003 UACA,UACA EXON Missense_M390V,Missense_M403V exm1173469 15 70969452 [T/C] NM_001008224,NM_018003 UACA,UACA EXON Missense_S330G,Missense_S343G exm1173473 15 70971946 [A/C] NM_001008224,NM_018003 UACA,UACA Silent,Silent exm1173474 15 70971971 [A/C] NM_001008224,NM_018003 UACA,UACA EXON Missense_H276Q,Missense_H289Q exm1838481 15 70972015 [A/G] NM_001008224,NM_018003 UACA,UACA EXON Nonsense_R262X,Nonsense_R275X exm1173479 15 70975111 [T/G] NM_001008224,NM_018003 UACA,UACA EXON Missense_P257T,Missense_P270T exm1173492 15 70980114 [T/C] NM_001008224,NM_018003 UACA,UACA EXON Missense_G144E,Missense_G157E exm1173504 15 70987398 [T/C] NM_001008224,NM_018003 UACA,UACA EXON Missense_I74V,Missense_I87V exm1838499 15 70991990 [T/C] NM_001008224,NM_018003 UACA,UACA EXON Missense_D17N,Missense_D30N exm1173516 15 70994222 [G/C] NM_001008224,NM_018003 UACA,UACA EXON Missense_K11N,Silent exm-rs1549318 15 71109147 [T/C] exm2252276 15 71110305 [T/C] exm1173524 15 71124471 [A/C] NM_018357 LARP6 EXON Missense_V466L exm1173532 15 71124549 [T/C] NM_018357 LARP6 EXON Missense_E440K exm1173539 15 71124806 [T/C] NM_018357 LARP6 EXON Missense_R354Q exm1173560 15 71125358 [A/G] NM_018357 LARP6 EXON Missense_T170I exm1173579 15 71143992 [T/C] NM_018357,NM_197958 LARP6,LARP6 EXON Silent,Missense_A90T exm1173583 15 71144048 [A/G] NM_018357,NM_197958 LARP6,LARP6 EXON Silent,Missense_S71L exm1173594 15 71175138 [A/G] NM_020147 THAP10 EXON Missense_T180I exm1173608 15 71184373 [T/C] NM_020147 THAP10 EXON Missense_R80K exm1173617 15 71184533 [A/G] NM_020147 THAP10 EXON Missense_R27W exm1173626 15 71188207 [A/G] NM_017691,NM_001199017,NM_001199018 LRRC49,LRRC49,LRRC49 EXON Missense_K42R,Missense_K47R,Silent exm1173628 15 71188276 [A/G] NM_017691,NM_001199017,NM_001199018 LRRC49,LRRC49,LRRC49 Silent,Silent,Silent exm1173634 15 71193324 [A/C] NM_017691,NM_001199017,NM_001199018 LRRC49,LRRC49,LRRC49 EXON Missense_E86A,Missense_E91A,Missense_E42A exm1173644 15 71211455 [A/T] NM_017691,NM_001199017,NM_001199018 LRRC49,LRRC49,LRRC49 EXON Missense_L212I,Missense_L217I,Missense_L168I exm1173649 15 71276455 [A/T] NM_017691,NM_001199017,NM_001199018 LRRC49,LRRC49,LRRC49 EXON Missense_N343I,Missense_N348I,Missense_N299I exm1173663 15 71300718 [T/G] NM_017691,NM_001199017,NM_001199018 LRRC49,LRRC49,LRRC49 EXON Synonymous_G390G,Synonymous_G395G,Synonymous_G346G exm1173674 15 71302212 [T/C] NM_017691,NM_001199017,NM_001199018 LRRC49,LRRC49,LRRC49 EXON Missense_R492C,Missense_R497C,Missense_R448C exm1173682 15 71305200 [A/G] NM_017691,NM_001199017,NM_001199018 LRRC49,LRRC49,LRRC49 EXON Missense_A551T,Missense_A556T,Missense_A507T exm1173686 15 71305225 [A/G] NM_017691,NM_001199017,NM_001199018 LRRC49,LRRC49,LRRC49 EXON Missense_R559H,Missense_R564H,Missense_R515H exm1173688 15 71329532 [A/G] NM_017691,NM_001199017,NM_001199018 LRRC49,LRRC49,LRRC49 EXON Missense_R573Q,Missense_R578Q,Missense_R529Q exm1838547 15 71329621 [T/C] NM_017691,NM_001199017,NM_001199018 LRRC49,LRRC49,LRRC49 EXON Missense_R603C,Missense_R608C,Missense_R559C exm1173694 15 71341784 [A/G] NM_017691,NM_001199017,NM_001199018 LRRC49,LRRC49,LRRC49 EXON Missense_I632V,Missense_I637V,Missense_I588V exm2273527 15 71403406 [T/C] NM_001102658 CT62 EXON Silent exm1173701 15 71403492 [A/G] NM_001102658 CT62 EXON Missense_X137Q exm1173709 15 71403694 [A/T] NM_001102658 CT62 EXON Nonsense_C69X exm1173711 15 71404486 [T/C] NM_001102658 CT62 Silent exm1173733 15 71535008 [T/C] NM_024817 THSD4 EXON Missense_I162T exm1173761 15 71548995 [T/C] NM_024817 THSD4 EXON Missense_A319V exm-rs7174934 15 71571345 [A/G] NM_024817 THSD4 Silent exm-rs12899618 15 71645120 [A/G] NM_024817 THSD4 Silent exm1173787 15 71704099 [A/C] NM_024817 THSD4 EXON Missense_K363N exm2267786 15 71722819 [A/G] NM_024817 THSD4 Silent exm2252279 15 71862739 [A/G] NM_024817 THSD4 Silent exm1173794 15 71952899 [A/G] NM_024817 THSD4 EXON Missense_D395N exm2274765 15 71952945 [G/C] NM_024817 THSD4 EXON Missense_G410A exm2252280 15 71952961 [A/G] NM_024817 THSD4 EXON Synonymous_S415S exm1173796 15 71952961 [A/G] NM_024817 THSD4 EXON Synonymous_S415S exm1173798 15 71952965 [A/G] NM_024817 THSD4 EXON Missense_V417M exm2252281 15 71953030 [A/G] NM_024817 THSD4 EXON Synonymous_T438T exm1173822 15 72023502 [A/G] NM_024817 THSD4 EXON Missense_V526M exm1173830 15 72030141 [A/C] NM_024817 THSD4 EXON Missense_N567K exm1173831 15 72030142 [A/G] NM_024817 THSD4 EXON Missense_E568K exm1838607 15 72030161 [A/G] NM_024817 THSD4 EXON Missense_R574H exm1173834 15 72030194 [T/C] NM_024817 THSD4 EXON Missense_S585L exm1173838 15 72030269 [T/C] NM_024817 THSD4 EXON Missense_P610L exm1173841 15 72030290 [A/G] NM_024817 THSD4 EXON Missense_R617Q exm1173842 15 72030299 [A/G] NM_024817 THSD4 EXON Missense_N620S exm1173853 15 72037481 [C/G] NM_024817 THSD4 EXON Missense_S648T exm1173864 15 72039251 [T/G] NM_024817 THSD4 EXON Missense_R704L exm1173865 15 72039256 [A/G] NM_024817 THSD4 EXON Missense_V706M exm1173873 15 72039380 [T/C] NM_024817 THSD4 EXON Missense_S747L exm1173874 15 72039381 [A/G] NM_024817 THSD4 EXON Synonymous_S747S exm1173876 15 72040776 [A/G] NM_024817 THSD4 EXON Missense_G753D exm1173881 15 72040835 [A/G] NM_024817 THSD4 EXON Missense_D773N exm1173888 15 72040928 [A/G] NM_024817 THSD4 EXON Missense_E804K exm1173889 15 72050243 [A/C] NM_024817 THSD4 EXON Nonsense_C806X exm1173902 15 72057449 [A/G] NM_024817 THSD4 EXON Missense_E894K exm1173904 15 72057477 [A/G] NM_024817 THSD4 EXON Missense_S903N exm1173912 15 72063446 [A/G] NM_024817 THSD4 EXON Missense_R938Q exm1173916 15 72069606 [T/G] NM_024817 THSD4 EXON Missense_V984L exm1173920 15 72069673 [A/G] NM_024817 THSD4 EXON Missense_R1006H exm1173921 15 72069681 [A/G] NM_024817 THSD4 EXON Missense_N1009D exm1173923 15 72069702 [A/G] NM_024817 THSD4 EXON Missense_G1016R exm1173930 15 72103835 [T/C] NM_014249,NM_016346 NR2E3,NR2E3 EXON Missense_S44L,Missense_S44L exm1173935 15 72103909 [A/G] NM_014249,NM_016346 NR2E3,NR2E3 EXON Missense_G69S,Missense_G69S exm1173937 15 72103931 [A/G] NM_014249,NM_016346 NR2E3,NR2E3 EXON Missense_R76Q,Missense_R76Q exm1173938 15 72103934 [A/G] NM_014249,NM_016346 NR2E3,NR2E3 EXON Missense_R77Q,Missense_R77Q exm1173945 15 72104306 [A/G] NM_014249,NM_016346 NR2E3,NR2E3 EXON Missense_E121K,Missense_E121K exm1173948 15 72104364 [A/G] NM_014249,NM_016346 NR2E3,NR2E3 EXON Missense_E140G,Missense_E140G exm1173965 15 72104798 [A/G] NM_014249,NM_016346 NR2E3,NR2E3 EXON Missense_V232I,Missense_V232I exm1173971 15 72105772 [A/G] NM_014249,NM_016346 NR2E3,NR2E3 EXON Missense_G264E,Missense_G264E exm1173979 15 72105913 [A/G] NM_014249,NM_016346 NR2E3,NR2E3 EXON Missense_R311Q,Missense_R311Q exm1173987 15 72106363 [A/C] NM_014249,NM_016346 NR2E3,NR2E3 EXON Synonymous_G335G,Synonymous_G335G exm1173990 15 72106453 [T/C] NM_014249,NM_016346 NR2E3,NR2E3 EXON Synonymous_P365P,Synonymous_P365P exm1173997 15 72109987 [A/C] NM_014249 NR2E3 EXON Missense_P399T exm1174003 15 72119057 [T/G] NM_006901 MYO9A EXON Missense_N2504T exm1174013 15 72119246 [A/G] NM_006901 MYO9A EXON Missense_T2441M exm1174024 15 72120258 [T/C] NM_006901 MYO9A EXON Missense_M2384V exm1174026 15 72120329 [T/C] NM_006901 MYO9A EXON Missense_R2360H exm1174031 15 72122523 [C/G] NM_006901 MYO9A EXON Missense_E2323Q exm1174032 15 72122551 [A/C] NM_006901 MYO9A EXON Missense_S2313R exm1174033 15 72122559 [A/C] NM_006901 MYO9A EXON Missense_L2311V exm1174041 15 72122642 [T/C] NM_006901 MYO9A EXON Missense_R2283H exm1174042 15 72141187 [A/C] NM_006901 MYO9A EXON Missense_M2279R exm1174043 15 72141193 [T/C] NM_006901 MYO9A EXON Missense_R2277K exm1174049 15 72143616 [A/G] NM_006901 MYO9A EXON Missense_R2187C exm1174050 15 72143643 [T/A] NM_006901 MYO9A EXON Missense_S2178T exm1174057 15 72144494 [T/C] NM_006901 MYO9A EXON Missense_E2152K exm1174064 15 72146816 [A/G] NM_006901 MYO9A EXON Missense_I2083T exm1174067 15 72146844 [T/A] NM_006901 MYO9A EXON Missense_T2074S exm1174068 15 72146846 [T/C] NM_006901 MYO9A EXON Missense_R2073Q exm-rs12902421 15 72161403 [T/C] NM_006901 MYO9A Silent exm1174080 15 72170400 [A/G] NM_006901 MYO9A EXON Missense_S1971L exm1838689 15 72170478 [A/G] NM_006901 MYO9A EXON Missense_L1945P exm1174091 15 72172798 [A/G] NM_006901 MYO9A EXON Missense_R1834C exm1174095 15 72172883 [G/C] NM_006901 MYO9A EXON Missense_H1805Q exm1174098 15 72175950 [A/G] NM_006901 MYO9A EXON Missense_H1795Y exm1174101 15 72176019 [T/C] NM_006901 MYO9A EXON Missense_T1772A exm1174104 15 72176033 [T/C] NM_006901 MYO9A EXON Missense_G1767E exm1174105 15 72180409 [T/A] NM_006901 MYO9A EXON Missense_T1731S exm1174110 15 72186052 [A/G] NM_006901 MYO9A EXON Missense_P1704S exm1174111 15 72186058 [A/G] NM_006901 MYO9A EXON Missense_W1702R exm1174113 15 72186069 [T/C] NM_006901 MYO9A EXON Missense_D1698G exm1174117 15 72186120 [T/C] NM_006901 MYO9A Silent exm1174124 15 72189952 [A/T] NM_006901 MYO9A EXON Missense_N1631I exm1174144 15 72190294 [T/C] NM_006901 MYO9A EXON Missense_R1517H exm1174145 15 72190295 [A/G] NM_006901 MYO9A EXON Missense_R1517C exm1174147 15 72190309 [A/G] NM_006901 MYO9A EXON Missense_M1512T exm1174148 15 72190352 [T/C] NM_006901 MYO9A EXON Missense_E1498K exm1174152 15 72190417 [C/G] NM_006901 MYO9A EXON Missense_P1476R exm1174153 15 72190418 [A/G] NM_006901 MYO9A EXON Missense_P1476S exm1174162 15 72190760 [A/G] NM_006901 MYO9A EXON Missense_S1362P exm1174167 15 72190889 [A/G] NM_006901 MYO9A EXON Missense_R1319W exm1174169 15 72190966 [T/C] NM_006901 MYO9A EXON Missense_R1293H exm1838711 15 72191053 [T/G] NM_006901 MYO9A EXON Missense_Q1264P exm1174171 15 72191061 [A/C] NM_006901 MYO9A EXON Missense_D1261E exm1174173 15 72191104 [T/C] NM_006901 MYO9A EXON Missense_Q1247R exm1174174 15 72191110 [T/C] NM_006901 MYO9A EXON Missense_D1245G exm1174176 15 72191186 [A/G] NM_006901 MYO9A EXON Missense_R1220C exm1174178 15 72191266 [T/C] NM_006901 MYO9A EXON Missense_G1193E exm1838715 15 72192132 [T/C] NM_006901 MYO9A EXON Missense_I1122M exm1174188 15 72192172 [T/C] NM_006901 MYO9A EXON Missense_R1109K exm1174189 15 72192205 [G/C] NM_006901 MYO9A EXON Missense_R1098P exm1174190 15 72192241 [T/C] NM_006901 MYO9A EXON Missense_R1086H exm1174191 15 72192242 [A/G] NM_006901 MYO9A EXON Missense_R1086C exm1174196 15 72192281 [T/C] NM_006901 MYO9A EXON Missense_V1073I exm1174197 15 72192299 [T/C] NM_006901 MYO9A EXON Missense_V1067M exm1174214 15 72197310 [C/G] NM_006901 MYO9A EXON Missense_A908G exm1174217 15 72208780 [T/A] NM_006901 MYO9A EXON Missense_D872E exm1174221 15 72227715 [T/C] NM_006901 MYO9A EXON Missense_S830N exm1174229 15 72231268 [T/C] NM_006901 MYO9A EXON Missense_S768N exm1174233 15 72244199 [T/C] NM_006901 MYO9A EXON Missense_M741V exm1174240 15 72252288 [T/C] NM_006901 MYO9A EXON Missense_M712I exm1838739 15 72252406 [T/C] NM_006901 MYO9A EXON Missense_R673H exm1174257 15 72270591 [A/G] NM_006901 MYO9A EXON Missense_Y589H exm1174258 15 72270594 [C/G] NM_006901 MYO9A EXON Missense_D588H exm1838743 15 72283488 [A/G] NM_006901 MYO9A EXON Missense_R560C exm1174261 15 72286823 [T/A] NM_006901 MYO9A EXON Missense_E525V exm1174265 15 72286923 [T/C] NM_006901 MYO9A EXON Missense_V492M exm1174286 15 72320129 [T/C] NM_006901 MYO9A EXON Missense_Y314C exm1174298 15 72338423 [A/G] NM_006901 MYO9A EXON Missense_T161I exm1174299 15 72338438 [T/C] NM_006901 MYO9A EXON Missense_D156G exm1174302 15 72338507 [A/C] NM_006901 MYO9A EXON Missense_R133M exm1174304 15 72338529 [A/G] NM_006901 MYO9A EXON Missense_R126W exm1174321 15 72432115 [A/G] NM_001166340,NM_001172109,NM_001172110,NM_145204,NM_001172111 SENP8,SENP8,SENP8,SENP8,SENP8 EXON Missense_V51I,Missense_V51I,Missense_V51I,Missense_V51I,Missense_V51I exm1174328 15 72432305 [A/G] NM_001166340,NM_001172109,NM_001172110,NM_145204,NM_001172111 SENP8,SENP8,SENP8,SENP8,SENP8 EXON Missense_S114N,Missense_S114N,Missense_S114N,Missense_S114N,Missense_S114N exm1174329 15 72432325 [T/C] NM_001166340,NM_001172109,NM_001172110,NM_145204,NM_001172111 SENP8,SENP8,SENP8,SENP8,SENP8 EXON Missense_H121Y,Missense_H121Y,Missense_H121Y,Missense_H121Y,Missense_H121Y exm1174337 15 72432583 [A/G] NM_001166340,NM_001172109,NM_001172110,NM_145204,NM_001172111 SENP8,SENP8,SENP8,SENP8,SENP8 EXON Missense_T207A,Missense_T207A,Missense_T207A,Missense_T207A,Missense_T207A exm1174342 15 72454690 [A/G] NM_001012642 GRAMD2 EXON Missense_Y329H exm1174352 15 72455727 [A/G] NM_001012642 GRAMD2 EXON Missense_P279L exm1174354 15 72455757 [G/C] NM_001012642 GRAMD2 EXON Missense_G269A exm1174360 15 72456086 [T/G] NM_001012642 GRAMD2 EXON Missense_P205T exm1174361 15 72457694 [T/C] NM_001012642 GRAMD2 Silent exm1174363 15 72457714 [G/C] NM_001012642 GRAMD2 EXON Nonsense_S194X exm1174370 15 72459382 [A/G] NM_001012642 GRAMD2 EXON Missense_R142W exm1174373 15 72459427 [A/T] NM_001012642 GRAMD2 EXON Missense_I127F exm1174378 15 72461288 [A/G] NM_001012642 GRAMD2 EXON Nonsense_R62X exm2274766 15 72462219 [T/G] NM_001012642 GRAMD2 EXON Missense_P35T exm1174383 15 72462255 [T/C] NM_001012642 GRAMD2 EXON Missense_A23T exm1838792 15 72492096 [A/G] NM_001206799,NM_001206798,NM_182470,NM_182471,NM_001206796,NM_001206797,NM_002654 PKM,PKM,PKM,PKM,PKM,PKM,PKM EXON Synonymous_G502G,Synonymous_G482G,Synonymous_G497G,Synonymous_G497G,Synonymous_G571G,Synonymous_G423G,Synonymous_G497G exm1174417 15 72495496 [A/G] NM_001206799,NM_001206798,NM_182470,NM_182471,NM_001206796,NM_001206797,NM_002654 PKM,PKM,PKM,PKM,PKM,PKM,PKM EXON Missense_R397C,Silent,Missense_R392C,Missense_R392C,Missense_R466C,Silent,Silent exm1174428 15 72500965 [T/C] NM_001206799,NM_001206798,NM_182470,NM_182471,NM_001206796,NM_001206797,NM_002654 PKM,PKM,PKM,PKM,PKM,PKM,PKM EXON Missense_R283Q,Missense_R263Q,Missense_R278Q,Missense_R278Q,Missense_R352Q,Missense_R204Q,Missense_R278Q exm2252282 15 72502138 [A/G] NM_001206799,NM_001206798,NM_182470,NM_182471,NM_001206796,NM_001206797,NM_002654 PKM,PKM,PKM,PKM,PKM,PKM,PKM EXON Synonymous_A152A,Synonymous_A132A,Synonymous_A147A,Synonymous_A147A,Synonymous_A221A,Synonymous_A73A,Synonymous_A147A exm1174462 15 72511415 [A/G] NM_001206799,NM_001206798,NM_182470,NM_182471,NM_001206796,NM_001206797,NM_002654 PKM,PKM,PKM,PKM,PKM,PKM,PKM EXON Synonymous_A13A,Missense_P24L,Synonymous_A8A,Synonymous_A8A,Synonymous_A82A,Synonymous_A8A,Synonymous_A8A exm1174465 15 72523315 [C/G] NM_001206798,NM_182470,NM_182471,NM_001206796,NM_001206797,NM_002654 PKM,PKM,PKM,PKM,PKM,PKM EXON Silent,Silent,Silent,Nonsense_S5X,Silent,Silent exm1174505 15 72552854 [T/C] NM_020214 PARP6 EXON Missense_V241M exm1174537 15 72579661 [A/G] NM_052840,NM_001172684,NM_001172685 CELF6,CELF6,CELF6 EXON Missense_M464T,Missense_M437T,Missense_M327T exm1174538 15 72579685 [A/G] NM_052840,NM_001172684,NM_001172685 CELF6,CELF6,CELF6 EXON Missense_A456V,Missense_A429V,Missense_A319V exm1838895 15 72581577 [T/G] NM_052840,NM_001172684,NM_001172685 CELF6,CELF6,CELF6 EXON Missense_A311E,Missense_A311E,Missense_A195E exm1174560 15 72581721 [A/G] NM_052840,NM_001172684,NM_001172685 CELF6,CELF6,CELF6 EXON Missense_A292V,Missense_A292V,Missense_A177V exm1174561 15 72581778 [A/G] NM_052840,NM_001172684,NM_001172685 CELF6,CELF6,CELF6 EXON Missense_A273V,Missense_A273V,Missense_A158V exm1174578 15 72612097 [A/G] NM_052840,NM_001172684 CELF6,CELF6 EXON Missense_M40T,Missense_M40T exm1174582 15 72612124 [A/C] NM_052840,NM_001172684 CELF6,CELF6 EXON Missense_G31V,Missense_G31V exm1174592 15 72637823 [T/C] NM_000520 HEXA EXON Missense_Y497C exm1174595 15 72637878 [T/C] NM_000520 HEXA EXON Missense_A479T exm1174597 15 72638575 [C/G] NM_000520 HEXA Silent exm1174599 15 72638600 [T/C] NM_000520 HEXA EXON Missense_N466S exm1174604 15 72638892 [T/C] NM_000520 HEXA EXON Missense_I436V exm1174608 15 72638945 [G/C] NM_000520 HEXA EXON Missense_A418G exm1174609 15 72638969 [A/G] NM_000520 HEXA EXON Missense_A410V exm1174611 15 72639003 [T/C] NM_000520 HEXA EXON Missense_N399D exm1174618 15 72640049 [T/C] NM_000520 HEXA EXON Missense_E375G exm1174624 15 72640388 [T/C] NM_000520 HEXA Silent exm1838925 15 72640434 [A/C] NM_000520 HEXA EXON Missense_G343V exm1174634 15 72642859 [T/C] NM_000520 HEXA EXON Missense_G269S exm1174637 15 72642919 [A/G] NM_000520 HEXA EXON Missense_R249W exm1174638 15 72642925 [A/G] NM_000520 HEXA EXON Missense_R247W exm2223758 15 72645431 [A/T] NM_000520 HEXA EXON Missense_L183H exm1174644 15 72645440 [T/G] NM_000520 HEXA EXON Missense_Y180S exm1174670 15 72690680 [A/G] NM_001080462 TMEM202 EXON Missense_E5K exm1174674 15 72690734 [T/C] NM_001080462 TMEM202 EXON Missense_R23W exm1174675 15 72690735 [A/G] NM_001080462 TMEM202 EXON Missense_R23Q exm1174676 15 72690747 [C/G] NM_001080462 TMEM202 EXON Missense_R27T exm1174681 15 72691085 [T/C] NM_001080462 TMEM202 EXON Missense_T58M exm1174688 15 72699027 [A/T] NM_001080462 TMEM202 EXON Missense_I141N exm1174696 15 72699549 [T/A] NM_001080462 TMEM202 EXON Missense_M204L exm1174703 15 72700088 [A/G] NM_001080462 TMEM202 EXON Missense_V226I exm1174708 15 72700169 [A/G] NM_001080462 TMEM202 EXON Missense_R253G exm2272314 15 72808428 [T/G] NM_005744 ARIH1 Silent exm1174730 15 72853839 [T/A] NM_005744 ARIH1 EXON Missense_D251E exm1174813 15 72987530 [T/C] NR_045565,NM_001252678,NM_033028,NR_045566 BBS4,BBS4,BBS4,BBS4 EXON Silent,Silent,Missense_P13S,Silent exm1174820 15 73002101 [A/G] NR_045565,NM_001252678,NM_033028,NR_045566 BBS4,BBS4,BBS4,BBS4 EXON Silent,Silent,Missense_K46R,Silent exm1174826 15 73004636 [A/G] NR_045565,NM_001252678,NM_033028,NR_045566 BBS4,BBS4,BBS4,BBS4 EXON Silent,Silent,Missense_I70V,Silent exm1174827 15 73004640 [A/G] NR_045565,NM_001252678,NM_033028,NR_045566 BBS4,BBS4,BBS4,BBS4 EXON Silent,Silent,Missense_Y71C,Silent exm1174846 15 73016923 [A/G] NR_045565,NM_001252678,NM_033028,NR_045566 BBS4,BBS4,BBS4,BBS4 EXON Silent,Silent,Missense_I172V,Silent exm1174862 15 73023682 [A/G] NR_045565,NM_001252678,NM_033028,NR_045566 BBS4,BBS4,BBS4,BBS4 EXON Silent,Missense_G78R,Missense_G250R,Silent exm1174867 15 73023725 [T/G] NR_045565,NM_001252678,NM_033028,NR_045566 BBS4,BBS4,BBS4,BBS4 EXON Silent,Missense_C92F,Missense_C264F,Silent exm1174870 15 73023798 [A/G] NR_045565,NM_001252678,NM_033028,NR_045566 BBS4,BBS4,BBS4,BBS4 EXON Silent,Synonymous_A116A,Synonymous_A288A,Silent exm1174875 15 73027466 [A/G] NR_045565,NM_001252678,NM_033028,NR_045566 BBS4,BBS4,BBS4,BBS4 EXON Silent,Missense_N178S,Missense_N350S,Silent exm1174876 15 73027478 [T/C] NR_045565,NM_001252678,NM_033028,NR_045566 BBS4,BBS4,BBS4,BBS4 EXON Silent,Missense_I182T,Missense_I354T,Silent exm1174882 15 73028195 [T/C] NR_045565,NM_001252678,NM_033028,NR_045566 BBS4,BBS4,BBS4,BBS4 EXON Silent,Missense_A207V,Missense_A379V,Silent exm1174888 15 73028295 [T/A] NR_045565,NM_001252678,NM_033028,NR_045566 BBS4,BBS4,BBS4,BBS4 EXON Silent,Missense_E240D,Missense_E412D,Silent exm1174899 15 73029879 [T/C] NR_045565,NM_001252678,NM_033028,NR_045566 BBS4,BBS4,BBS4,BBS4 EXON Silent,Missense_A332V,Missense_A504V,Silent exm2273528 15 73044594 [A/C] NR_023319,NR_023318,NM_031284 ADPGK,ADPGK,ADPGK EXON Silent,Silent,Silent exm1174907 15 73044829 [T/G] NR_023319,NR_023318,NM_031284 ADPGK,ADPGK,ADPGK EXON Silent,Silent,Missense_N448K exm1174908 15 73044863 [A/G] NR_023319,NR_023318,NM_031284 ADPGK,ADPGK,ADPGK EXON Silent,Silent,Missense_S437L exm1174932 15 73048762 [A/G] NR_023319,NR_023318,NM_031284 ADPGK,ADPGK,ADPGK EXON Silent,Silent,Missense_P224S exm1174933 15 73048787 [T/C] NR_023319,NR_023318,NM_031284 ADPGK,ADPGK,ADPGK EXON Silent,Silent,Synonymous_G215G exm1174938 15 73052840 [T/C] NR_023319,NR_023318,NM_031284 ADPGK,ADPGK,ADPGK EXON Silent,Silent,Missense_K184R exm1174940 15 73052856 [T/C] NR_023319,NR_023318,NM_031284 ADPGK,ADPGK,ADPGK EXON Silent,Silent,Missense_G179S exm1174941 15 73067217 [A/G] NR_023319,NR_023318,NM_031284 ADPGK,ADPGK,ADPGK EXON Silent,Silent,Missense_A152V exm1174945 15 73067277 [A/G] NR_023319,NR_023318,NM_031284 ADPGK,ADPGK,ADPGK EXON Silent,Silent,Missense_F132S exm2272263 15 73276931 [T/G] exm1174961 15 73409045 [A/G] NM_001172624,NM_001172623,NM_002499 NEO1,NEO1,NEO1 EXON Missense_D99N,Missense_D99N,Missense_D99N exm1174968 15 73414920 [A/G] NM_001172624,NM_001172623,NM_002499 NEO1,NEO1,NEO1 EXON Missense_N168S,Missense_N168S,Missense_N168S exm1174970 15 73414959 [T/C] NM_001172624,NM_001172623,NM_002499 NEO1,NEO1,NEO1 EXON Missense_P181L,Missense_P181L,Missense_P181L exm2223768 15 73415075 [T/C] NM_001172624,NM_001172623,NM_002499 NEO1,NEO1,NEO1 EXON Missense_R220C,Missense_R220C,Missense_R220C exm1839095 15 73415076 [A/G] NM_001172624,NM_001172623,NM_002499 NEO1,NEO1,NEO1 EXON Missense_R220H,Missense_R220H,Missense_R220H exm1174988 15 73468840 [T/C] NM_001172624,NM_001172623,NM_002499 NEO1,NEO1,NEO1 EXON Missense_T371I,Missense_T371I,Missense_T371I exm1174990 15 73470657 [A/G] NM_001172624,NM_001172623,NM_002499 NEO1,NEO1,NEO1 EXON Missense_N394D,Missense_N394D,Missense_N394D exm1174998 15 73528769 [T/C] NM_001172624,NM_001172623,NM_002499 NEO1,NEO1,NEO1 EXON Missense_T458M,Missense_T458M,Missense_T458M exm1175032 15 73552659 [A/G] NM_001172624,NM_001172623,NM_002499 NEO1,NEO1,NEO1 EXON Missense_V751I,Missense_V751I,Missense_V751I exm2267843 15 73554544 [A/G] NM_001172624,NM_001172623,NM_002499 NEO1,NEO1,NEO1 Silent,Silent,Silent exm1175041 15 73562512 [A/G] NM_001172624,NM_001172623,NM_002499 NEO1,NEO1,NEO1 EXON Missense_T886A,Missense_T886A,Missense_T886A exm1175048 15 73564825 [A/G] NM_001172624,NM_001172623,NM_002499 NEO1,NEO1,NEO1 EXON Missense_V963I,Missense_V963I,Missense_V963I exm1175051 15 73566160 [A/C] NM_001172624,NM_001172623,NM_002499 NEO1,NEO1,NEO1 EXON Missense_I992L,Missense_I992L,Missense_I992L exm1175068 15 73575412 [T/G] NM_001172624,NM_001172623,NM_002499 NEO1,NEO1,NEO1 EXON Missense_A1113S,Missense_A1124S,Missense_A1124S exm1175070 15 73575428 [A/G] NM_001172624,NM_001172623,NM_002499 NEO1,NEO1,NEO1 EXON Missense_R1118H,Missense_R1129H,Missense_R1129H exm1175071 15 73575430 [T/C] NM_001172624,NM_001172623,NM_002499 NEO1,NEO1,NEO1 EXON Missense_R1119C,Missense_R1130C,Missense_R1130C exm1175077 15 73580818 [A/G] NM_001172624,NM_001172623,NM_002499 NEO1,NEO1,NEO1 EXON Missense_R1181H,Missense_R1192H,Missense_R1192H exm1175086 15 73581488 [A/G] NM_001172624,NM_001172623,NM_002499 NEO1,NEO1,NEO1 EXON Synonymous_G1206G,Synonymous_G1217G,Synonymous_G1217G exm1175097 15 73585880 [T/A] NM_001172624,NM_001172623,NM_002499 NEO1,NEO1,NEO1 EXON Missense_N1287Y,Silent,Missense_N1298Y exm1175102 15 73590743 [C/G] NM_001172624,NM_001172623,NM_002499 NEO1,NEO1,NEO1 EXON Missense_T1308R,Missense_T1266R,Missense_T1319R exm1175103 15 73590749 [A/G] NM_001172624,NM_001172623,NM_002499 NEO1,NEO1,NEO1 EXON Missense_C1310Y,Missense_C1268Y,Missense_C1321Y exm1175106 15 73590825 [G/C] NM_001172624,NM_001172623,NM_002499 NEO1,NEO1,NEO1 EXON Missense_Q1335H,Missense_Q1293H,Missense_Q1346H exm1175109 15 73590890 [T/C] NM_001172624,NM_001172623,NM_002499 NEO1,NEO1,NEO1 EXON Missense_P1357L,Missense_P1315L,Missense_P1368L exm1175125 15 73614847 [T/C] NM_005477 HCN4 EXON Missense_R1196H exm1175136 15 73614973 [T/C] NM_005477 HCN4 EXON Missense_R1154Q exm1175153 15 73615424 [A/G] NM_005477 HCN4 EXON Missense_P1004S exm1175155 15 73615456 [A/G] NM_005477 HCN4 EXON Missense_T993M exm1175160 15 73615517 [T/C] NM_005477 HCN4 EXON Missense_G973R exm1175168 15 73615704 [T/G] NM_005477 HCN4 EXON Missense_F910L exm1175173 15 73615777 [A/G] NM_005477 HCN4 EXON Missense_A886V exm1175180 15 73615912 [A/G] NM_005477 HCN4 EXON Missense_S841L exm1839188 15 73615969 [A/G] NM_005477 HCN4 EXON Missense_T822M exm1175190 15 73616159 [T/C] NM_005477 HCN4 EXON Missense_V759I exm1175192 15 73616168 [T/C] NM_005477 HCN4 EXON Missense_A756T exm1175196 15 73616224 [T/C] NM_005477 HCN4 EXON Missense_Q737R exm1175217 15 73617673 [G/C] NM_005477 HCN4 EXON Missense_S568T exm2252285 15 73621944 [T/C] NM_005477 HCN4 EXON Synonymous_L520L exm1839218 15 73624600 [T/C] NM_005477 HCN4 EXON Missense_V415M exm1175247 15 73635845 [T/C] NM_005477 HCN4 EXON Missense_D364N exm1839225 15 73660028 [A/G] NM_005477 HCN4 EXON Missense_A195V exm1175289 15 73843370 [A/G] NM_001042367 C15orf60 EXON Missense_Q142R exm1175292 15 73843387 [A/G] NM_001042367 C15orf60 EXON Missense_V148M exm1175294 15 73843430 [T/C] NM_001042367 C15orf60 EXON Missense_P162L exm1175297 15 73848676 [T/G] NM_001042367 C15orf60 EXON Missense_V194L exm1175298 15 73848683 [T/C] NM_001042367 C15orf60 EXON Missense_A196V exm1175305 15 73852138 [T/G] NM_001042367 C15orf60 EXON Missense_A228S exm1175306 15 73852171 [T/C] NM_001042367 C15orf60 EXON Missense_R239C exm1175311 15 73854298 [T/C] NM_012428,NM_017455,NM_001161364,NM_001161363 NPTN,NPTN,NPTN,NPTN EXON Missense_T384A,Missense_T268A,Missense_T264A,Missense_T380A exm1175328 15 73884338 [T/G] NM_012428,NM_017455,NM_001161364,NM_001161363 NPTN,NPTN,NPTN,NPTN EXON Missense_T194P,Missense_T78P,Missense_T78P,Missense_T194P exm2272264 15 73929859 [T/C] exm1839297 15 73994667 [T/C] NM_001024736,NM_025240 CD276,CD276 EXON Missense_S51P,Missense_S51P exm1175352 15 73994778 [A/G] NM_001024736,NM_025240 CD276,CD276 EXON Missense_A88T,Missense_A88T exm1175449 15 74002006 [A/G] NM_001024736,NM_025240 CD276,CD276 EXON Missense_G508R,Missense_G290R exm1175450 15 74002012 [A/G] NM_001024736,NM_025240 CD276,CD276 EXON Missense_G510R,Missense_G292R exm-rs1038094 15 74012437 [A/G] exm1175465 15 74032293 [T/G] NM_001039614 C15orf59 EXON Missense_T283P exm1175472 15 74032395 [A/G] NM_001039614 C15orf59 EXON Missense_H249Y exm1175481 15 74032479 [G/C] NM_001039614 C15orf59 EXON Missense_P221A exm1175486 15 74032631 [A/G] NM_001039614 C15orf59 EXON Missense_T170M exm1175502 15 74032916 [A/G] NM_001039614 C15orf59 EXON Missense_T75M exm1175523 15 74174064 [A/G] NM_153356 TBC1D21 EXON Missense_R83Q exm1175526 15 74176557 [A/G] NM_153356 TBC1D21 EXON Missense_R113Q exm1175536 15 74177197 [A/T] NM_153356 TBC1D21 EXON Missense_I148N exm1175542 15 74177400 [A/G] NM_153356 TBC1D21 EXON Missense_D179N exm1175548 15 74178447 [T/C] NM_153356 TBC1D21 EXON Missense_V203A exm1175556 15 74178880 [A/C] NM_153356 TBC1D21 EXON Missense_S235Y exm1175565 15 74180789 [A/G] NM_153356 TBC1D21 EXON Missense_D305N exm1175567 15 74180825 [A/G] NM_153356 TBC1D21 EXON Missense_V317M exm1175593 15 74219602 [G/C] NR_040066,NR_040070,NR_040068,NR_040069,NR_040067,NM_005576 LOXL1-AS1,LOXL1-AS1,LOXL1-AS1,LOXL1-AS1,LOXL1-AS1,LOXL1 EXON Silent,Silent,Silent,Silent,Silent,Missense_A160P exm1175594 15 74219606 [T/C] NR_040066,NR_040070,NR_040068,NR_040069,NR_040067,NM_005576 LOXL1-AS1,LOXL1-AS1,LOXL1-AS1,LOXL1-AS1,LOXL1-AS1,LOXL1 EXON Silent,Silent,Silent,Silent,Silent,Missense_S161L exm1175598 15 74219678 [T/C] NR_040066,NR_040070,NR_040068,NR_040069,NR_040067,NM_005576 LOXL1-AS1,LOXL1-AS1,LOXL1-AS1,LOXL1-AS1,LOXL1-AS1,LOXL1 EXON Silent,Silent,Silent,Silent,Silent,Missense_V185A exm-rs893817 15 74229065 [A/G] NM_005576 LOXL1 Silent exm1175614 15 74235282 [T/C] NM_005576 LOXL1 EXON Missense_A397V exm1175636 15 74240235 [A/G] NM_005576 LOXL1 EXON Missense_I532V exm1175639 15 74241821 [A/G] NM_005576 LOXL1 EXON Missense_I542V exm1175642 15 74241896 [A/G] NM_005576 LOXL1 EXON Missense_T567A exm1175663 15 74276451 [T/C] NM_001256673,NM_001256672,NM_001256675,NM_001256677,NM_001256676,NM_004809,NM_001256674 STOML1,STOML1,STOML1,STOML1,STOML1,STOML1,STOML1 EXON Missense_G292R,Missense_G341R,Missense_G271R,Missense_G299R,Missense_G254R,Missense_G342R,Missense_G291R exm1175668 15 74277048 [T/C] NM_001256673,NM_001256672,NM_001256675,NM_001256677,NM_001256676,NM_004809,NM_001256674 STOML1,STOML1,STOML1,STOML1,STOML1,STOML1,STOML1 EXON Missense_V269I,Missense_V318I,Silent,Missense_V276I,Missense_V231I,Missense_V319I,Missense_V268I exm1175673 15 74277146 [A/G] NM_001256673,NM_001256672,NM_001256675,NM_001256677,NM_001256676,NM_004809,NM_001256674 STOML1,STOML1,STOML1,STOML1,STOML1,STOML1,STOML1 EXON Missense_P236L,Missense_P285L,Silent,Missense_P243L,Missense_P198L,Missense_P286L,Missense_P235L exm1175674 15 74277170 [A/G] NM_001256673,NM_001256672,NM_001256675,NM_001256677,NM_001256676,NM_004809,NM_001256674 STOML1,STOML1,STOML1,STOML1,STOML1,STOML1,STOML1 EXON Missense_P228L,Missense_P277L,Silent,Missense_P235L,Missense_P190L,Missense_P278L,Missense_P227L exm1175687 15 74277806 [T/C] NM_001256673,NM_001256672,NM_001256675,NM_001256677,NM_001256676,NM_004809,NM_001256674 STOML1,STOML1,STOML1,STOML1,STOML1,STOML1,STOML1 EXON Missense_V165M,Missense_V215M,Missense_V215M,Missense_V173M,Missense_V128M,Missense_V215M,Missense_V165M exm1175720 15 74284542 [T/C] NM_001256673,NM_001256672,NM_001256675,NM_001256677,NM_001256676,NM_004809,NM_001256674 STOML1,STOML1,STOML1,STOML1,STOML1,STOML1,STOML1 EXON Missense_R8Q,Missense_R8Q,Missense_R8Q,Silent,Silent,Missense_R8Q,Missense_R8Q exm1175721 15 74284543 [A/G] NM_001256673,NM_001256672,NM_001256675,NM_001256677,NM_001256676,NM_004809,NM_001256674 STOML1,STOML1,STOML1,STOML1,STOML1,STOML1,STOML1 EXON Missense_R8W,Missense_R8W,Missense_R8W,Silent,Silent,Missense_R8W,Missense_R8W exm1175751 15 74315485 [T/C] NM_002675,NM_033247,NM_033238,NM_033244,NM_033239,NM_033250,NM_033240,NM_033246,NM_033249 PML,PML,PML,PML,PML,PML,PML,PML,PML EXON Missense_R307C,Missense_R307C,Missense_R307C,Missense_R307C,Missense_R307C,Missense_R307C,Missense_R307C,Missense_R307C,Missense_R307C exm2252290 15 74315565 [A/G] NM_002675,NM_033247,NM_033238,NM_033244,NM_033239,NM_033250,NM_033240,NM_033246,NM_033249 PML,PML,PML,PML,PML,PML,PML,PML,PML EXON Synonymous_V333V,Synonymous_V333V,Synonymous_V333V,Synonymous_V333V,Synonymous_V333V,Synonymous_V333V,Synonymous_V333V,Synonymous_V333V,Synonymous_V333V exm1175771 15 74317263 [C/G] NM_002675,NM_033247,NM_033238,NM_033244,NM_033239,NM_033250,NM_033240,NM_033246,NM_033249 PML,PML,PML,PML,PML,PML,PML,PML,PML EXON Missense_D417H,Missense_D417H,Missense_D417H,Missense_D417H,Missense_D417H,Missense_D417H,Missense_D417H,Missense_D417H,Missense_D417H exm1175776 15 74325024 [A/G] NM_002675,NM_033247,NM_033238,NM_033244,NM_033239,NM_033250,NM_033240,NM_033246,NM_033249 PML,PML,PML,PML,PML,PML,PML,PML,PML EXON Missense_A456T,Silent,Missense_A456T,Missense_A456T,Missense_A456T,Silent,Missense_A456T,Silent,Silent exm1175789 15 74325743 [A/G] NM_002675,NM_033247,NM_033238,NM_033244,NM_033239,NM_033250,NM_033240,NM_033246,NM_033249 PML,PML,PML,PML,PML,PML,PML,PML,PML EXON Missense_A549T,Silent,Missense_A549T,Missense_A549T,Missense_A549T,Missense_A501T,Missense_A549T,Silent,Missense_A501T exm1175790 15 74325747 [A/G] NM_002675,NM_033247,NM_033238,NM_033244,NM_033239,NM_033250,NM_033240,NM_033246,NM_033249 PML,PML,PML,PML,PML,PML,PML,PML,PML EXON Missense_G550E,Silent,Missense_G550E,Missense_G550E,Missense_G550E,Missense_G502E,Missense_G550E,Silent,Missense_G502E exm1175793 15 74326826 [T/C] NM_002675,NM_033247,NM_033238,NM_033244,NM_033239,NM_033250,NM_033240,NM_033246,NM_033249 PML,PML,PML,PML,PML,PML,PML,PML,PML EXON Synonymous_R555R,Silent,Synonymous_R555R,Missense_A558V,Synonymous_R555R,Synonymous_R507R,Synonymous_R555R,Missense_A421V,Synonymous_R507R exm1175803 15 74327534 [A/G] NM_002675,NM_033247,NM_033238,NM_033244,NM_033239,NM_033250,NM_033240,NM_033246,NM_033249 PML,PML,PML,PML,PML,PML,PML,PML,PML EXON Silent,Silent,Silent,Silent,Missense_A578T,Missense_A530T,Silent,Silent,Silent exm1175805 15 74327556 [T/C] NM_002675,NM_033247,NM_033238,NM_033244,NM_033239,NM_033250,NM_033240,NM_033246,NM_033249 PML,PML,PML,PML,PML,PML,PML,PML,PML EXON Silent,Silent,Silent,Silent,Missense_A585V,Missense_A537V,Silent,Silent,Silent exm2223779 15 74327601 [T/C] NM_002675,NM_033247,NM_033238,NM_033244,NM_033239,NM_033250,NM_033240,NM_033246,NM_033249 PML,PML,PML,PML,PML,PML,PML,PML,PML EXON Silent,Silent,Silent,Silent,Missense_V600A,Missense_V552A,Silent,Silent,Silent exm1175815 15 74327684 [A/G] NM_002675,NM_033247,NM_033238,NM_033244,NM_033239,NM_033250,NM_033240,NM_033246,NM_033249 PML,PML,PML,PML,PML,PML,PML,PML,PML EXON Silent,Silent,Silent,Silent,Missense_A628T,Missense_A580T,Silent,Silent,Silent exm1175824 15 74327819 [T/C] NM_002675,NM_033247,NM_033238,NM_033244,NM_033239,NM_033250,NM_033240,NM_033246,NM_033249 PML,PML,PML,PML,PML,PML,PML,PML,PML EXON Silent,Silent,Silent,Silent,Missense_R673C,Missense_R625C,Silent,Silent,Silent exm1175830 15 74327861 [T/C] NM_002675,NM_033247,NM_033238,NM_033244,NM_033239,NM_033250,NM_033240,NM_033246,NM_033249 PML,PML,PML,PML,PML,PML,PML,PML,PML EXON Silent,Silent,Silent,Silent,Missense_S687P,Missense_S639P,Silent,Silent,Silent exm1175832 15 74327900 [A/G] NM_002675,NM_033247,NM_033238,NM_033244,NM_033239,NM_033250,NM_033240,NM_033246,NM_033249 PML,PML,PML,PML,PML,PML,PML,PML,PML EXON Silent,Silent,Silent,Silent,Missense_G700R,Missense_G652R,Silent,Silent,Silent exm1175835 15 74327949 [A/G] NM_002675,NM_033247,NM_033238,NM_033244,NM_033239,NM_033250,NM_033240,NM_033246,NM_033249 PML,PML,PML,PML,PML,PML,PML,PML,PML EXON Silent,Silent,Silent,Silent,Missense_Q716R,Missense_Q668R,Silent,Silent,Silent exm1175838 15 74327973 [A/G] NM_002675,NM_033247,NM_033238,NM_033244,NM_033239,NM_033250,NM_033240,NM_033246,NM_033249 PML,PML,PML,PML,PML,PML,PML,PML,PML EXON Silent,Silent,Silent,Silent,Missense_R724Q,Missense_R676Q,Silent,Silent,Silent exm1175840 15 74327979 [A/G] NM_002675,NM_033247,NM_033238,NM_033244,NM_033239,NM_033250,NM_033240,NM_033246,NM_033249 PML,PML,PML,PML,PML,PML,PML,PML,PML EXON Silent,Silent,Silent,Silent,Missense_R726Q,Missense_R678Q,Silent,Silent,Silent exm1175844 15 74328098 [A/G] NM_002675,NM_033247,NM_033238,NM_033244,NM_033239,NM_033250,NM_033240,NM_033246,NM_033249 PML,PML,PML,PML,PML,PML,PML,PML,PML EXON Silent,Silent,Silent,Silent,Missense_V766M,Missense_V718M,Silent,Silent,Silent exm1175845 15 74328116 [A/G] NM_002675,NM_033247,NM_033238,NM_033244,NM_033239,NM_033250,NM_033240,NM_033246,NM_033249 PML,PML,PML,PML,PML,PML,PML,PML,PML EXON Silent,Silent,Silent,Silent,Missense_S772G,Missense_S724G,Silent,Silent,Silent exm1175848 15 74328141 [T/G] NM_002675,NM_033247,NM_033238,NM_033244,NM_033239,NM_033250,NM_033240,NM_033246,NM_033249 PML,PML,PML,PML,PML,PML,PML,PML,PML EXON Silent,Silent,Silent,Silent,Missense_G780V,Missense_G732V,Silent,Silent,Silent exm1175855 15 74328276 [A/G] NM_002675,NM_033247,NM_033238,NM_033244,NM_033239,NM_033250,NM_033240,NM_033246,NM_033249 PML,PML,PML,PML,PML,PML,PML,PML,PML EXON Silent,Silent,Silent,Silent,Missense_R825H,Missense_R777H,Silent,Silent,Silent exm1175861 15 74335359 [T/G] NM_002675,NM_033238,NM_033246,NM_033249 PML,PML,PML,PML EXON Missense_S580R,Missense_S580R,Silent,Missense_S532R exm1175870 15 74336594 [T/C] NM_033238 PML EXON Missense_R632W exm1175871 15 74336633 [T/C] NM_033238 PML EXON Missense_F645L exm1175876 15 74336712 [A/G] NM_033238 PML EXON Missense_R671H exm1175886 15 74336874 [A/G] NM_033238 PML EXON Missense_K725R exm1175887 15 74336894 [A/G] NM_033238 PML EXON Missense_T732A exm1175891 15 74336981 [C/G] NM_033238 PML EXON Missense_P761A exm1175898 15 74337087 [A/G] NM_033238 PML EXON Missense_R796H exm1175900 15 74337141 [A/G] NM_033238 PML EXON Missense_R814H exm1175904 15 74337209 [A/G] NM_033238 PML EXON Missense_A837T exm1175905 15 74337218 [T/G] NM_033238 PML EXON Missense_A840S exm1839498 15 74337273 [T/C] NM_033238 PML EXON Missense_A858V exm1176020 15 74425505 [T/C] NM_001130136,NM_001130137,NM_001130138,NM_020851 ISLR2,ISLR2,ISLR2,ISLR2 EXON Missense_S137F,Missense_S137F,Missense_S137F,Missense_S137F exm1176021 15 74425514 [A/G] NM_001130136,NM_001130137,NM_001130138,NM_020851 ISLR2,ISLR2,ISLR2,ISLR2 EXON Missense_R140Q,Missense_R140Q,Missense_R140Q,Missense_R140Q exm1176022 15 74425535 [T/C] NM_001130136,NM_001130137,NM_001130138,NM_020851 ISLR2,ISLR2,ISLR2,ISLR2 EXON Missense_P147L,Missense_P147L,Missense_P147L,Missense_P147L exm1176040 15 74426006 [G/C] NM_001130136,NM_001130137,NM_001130138,NM_020851 ISLR2,ISLR2,ISLR2,ISLR2 EXON Missense_G304A,Missense_G304A,Missense_G304A,Missense_G304A exm1176042 15 74426069 [T/C] NM_001130136,NM_001130137,NM_001130138,NM_020851 ISLR2,ISLR2,ISLR2,ISLR2 EXON Missense_A325V,Missense_A325V,Missense_A325V,Missense_A325V exm1176048 15 74426245 [T/G] NM_001130136,NM_001130137,NM_001130138,NM_020851 ISLR2,ISLR2,ISLR2,ISLR2 EXON Missense_A384S,Missense_A384S,Missense_A384S,Missense_A384S exm1176051 15 74426270 [A/C] NM_001130136,NM_001130137,NM_001130138,NM_020851 ISLR2,ISLR2,ISLR2,ISLR2 EXON Missense_A392D,Missense_A392D,Missense_A392D,Missense_A392D exm1176094 15 74467302 [A/G] NM_005545,NM_201526 ISLR,ISLR EXON Missense_D35N,Missense_D35N exm1176098 15 74467329 [A/G] NM_005545,NM_201526 ISLR,ISLR EXON Missense_V44M,Missense_V44M exm1839544 15 74467345 [T/C] NM_005545,NM_201526 ISLR,ISLR EXON Missense_P49L,Missense_P49L exm1176105 15 74467462 [T/C] NM_005545,NM_201526 ISLR,ISLR EXON Missense_T88M,Missense_T88M exm1176111 15 74467585 [T/C] NM_005545,NM_201526 ISLR,ISLR EXON Missense_M129T,Missense_M129T exm1839549 15 74467625 [C/G] NM_005545,NM_201526 ISLR,ISLR EXON Missense_F142L,Missense_F142L exm1176135 15 74467942 [A/G] NM_005545,NM_201526 ISLR,ISLR EXON Missense_R248Q,Missense_R248Q exm2276390 15 74468003 [C/G] NM_005545,NM_201526 ISLR,ISLR EXON Missense_H268Q,Missense_H268Q exm1176143 15 74468068 [A/G] NM_005545,NM_201526 ISLR,ISLR EXON Missense_R290H,Missense_R290H exm1176158 15 74468355 [A/G] NM_005545,NM_201526 ISLR,ISLR EXON Missense_V386I,Missense_V386I exm1176160 15 74468374 [A/G] NM_005545,NM_201526 ISLR,ISLR EXON Missense_R392H,Missense_R392H exm1176174 15 74472455 [A/G] NM_001199040,NM_001199042,NM_001142617,NM_001142618,NM_022369,NM_001142619,NM_001199041 STRA6,STRA6,STRA6,STRA6,STRA6,STRA6,STRA6 EXON Missense_T694M,Missense_T696M,Missense_T657M,Missense_T657M,Missense_T657M,Missense_T648M,Missense_T672M exm1176175 15 74472468 [T/C] NM_001199040,NM_001199042,NM_001142617,NM_001142618,NM_022369,NM_001142619,NM_001199041 STRA6,STRA6,STRA6,STRA6,STRA6,STRA6,STRA6 EXON Missense_V690I,Missense_V692I,Missense_V653I,Missense_V653I,Missense_V653I,Missense_V644I,Missense_V668I exm1176179 15 74472522 [T/C] NM_001199040,NM_001199042,NM_001142617,NM_001142618,NM_022369,NM_001142619,NM_001199041 STRA6,STRA6,STRA6,STRA6,STRA6,STRA6,STRA6 EXON Missense_G672S,Missense_G674S,Missense_G635S,Missense_G635S,Missense_G635S,Missense_G626S,Missense_G650S exm1176183 15 74472534 [T/C] NM_001199040,NM_001199042,NM_001142617,NM_001142618,NM_022369,NM_001142619,NM_001199041 STRA6,STRA6,STRA6,STRA6,STRA6,STRA6,STRA6 EXON Missense_G668R,Missense_G670R,Missense_G631R,Missense_G631R,Missense_G631R,Missense_G622R,Missense_G646R exm1176195 15 74473192 [T/C] NM_001199040,NM_001199042,NM_001142617,NM_001142618,NM_022369,NM_001142619,NM_001199041 STRA6,STRA6,STRA6,STRA6,STRA6,STRA6,STRA6 EXON Missense_A628T,Missense_A630T,Missense_A591T,Missense_A591T,Missense_A591T,Missense_A582T,Missense_A606T exm1176196 15 74473269 [A/G] NM_001199040,NM_001199042,NM_001142617,NM_001142618,NM_022369,NM_001142619,NM_001199041 STRA6,STRA6,STRA6,STRA6,STRA6,STRA6,STRA6 EXON Missense_T602M,Missense_T604M,Missense_T565M,Missense_T565M,Missense_T565M,Missense_T556M,Missense_T580M exm1176209 15 74473739 [T/C] NM_001199040,NM_001199042,NM_001142617,NM_001142618,NM_022369,NM_001142619,NM_001199041 STRA6,STRA6,STRA6,STRA6,STRA6,STRA6,STRA6 EXON Missense_M564I,Missense_M566I,Missense_M527I,Missense_M527I,Missense_M527I,Missense_M518I,Missense_M542I exm1176215 15 74474702 [T/C] NM_001199040,NM_001199042,NM_001142617,NM_001142618,NM_022369,NM_001142619,NM_001199041 STRA6,STRA6,STRA6,STRA6,STRA6,STRA6,STRA6 EXON Missense_R504H,Missense_R506H,Missense_R467H,Missense_R467H,Missense_R467H,Missense_R458H,Missense_R482H exm1176216 15 74474711 [A/C] NM_001199040,NM_001199042,NM_001142617,NM_001142618,NM_022369,NM_001142619,NM_001199041 STRA6,STRA6,STRA6,STRA6,STRA6,STRA6,STRA6 EXON Missense_L501R,Missense_L503R,Missense_L464R,Missense_L464R,Missense_L464R,Missense_L455R,Missense_L479R exm1176217 15 74474737 [G/C] NM_001199040,NM_001199042,NM_001142617,NM_001142618,NM_022369,NM_001142619,NM_001199041 STRA6,STRA6,STRA6,STRA6,STRA6,STRA6,STRA6 EXON Missense_M492I,Missense_M494I,Missense_M455I,Missense_M455I,Missense_M455I,Missense_M446I,Missense_M470I exm1176223 15 74476274 [T/C] NM_001199040,NM_001199042,NM_001142617,NM_001142618,NM_022369,NM_001142619,NM_001199041 STRA6,STRA6,STRA6,STRA6,STRA6,STRA6,STRA6 EXON Missense_R445Q,Missense_R447Q,Missense_R408Q,Missense_R408Q,Missense_R408Q,Missense_R399Q,Missense_R423Q exm1176235 15 74481573 [A/C] NM_001199040,NM_001199042,NM_001142617,NM_001142618,NM_022369,NM_001142619,NM_001199041 STRA6,STRA6,STRA6,STRA6,STRA6,STRA6,STRA6 EXON Missense_V362L,Missense_V364L,Missense_V325L,Missense_V325L,Missense_V325L,Missense_V316L,Missense_V340L exm1176237 15 74481585 [T/G] NM_001199040,NM_001199042,NM_001142617,NM_001142618,NM_022369,NM_001142619,NM_001199041 STRA6,STRA6,STRA6,STRA6,STRA6,STRA6,STRA6 EXON Missense_T358P,Missense_T360P,Missense_T321P,Missense_T321P,Missense_T321P,Missense_T312P,Missense_T336P exm1176239 15 74481600 [T/C] NM_001199040,NM_001199042,NM_001142617,NM_001142618,NM_022369,NM_001142619,NM_001199041 STRA6,STRA6,STRA6,STRA6,STRA6,STRA6,STRA6 EXON Missense_V353M,Missense_V355M,Missense_V316M,Missense_V316M,Missense_V316M,Missense_V307M,Missense_V331M exm1176240 15 74483206 [A/G] NM_001199040,NM_001199042,NM_001142617,NM_001142618,NM_022369,NM_001142619,NM_001199041 STRA6,STRA6,STRA6,STRA6,STRA6,STRA6,STRA6 EXON Missense_T338I,Missense_T340I,Missense_T301I,Missense_T301I,Missense_T301I,Missense_T292I,Missense_T316I exm2223786 15 74483579 [A/T] NM_001199040,NM_001199042,NM_001142617,NM_001142618,NM_022369,NM_001142619,NM_001199041 STRA6,STRA6,STRA6,STRA6,STRA6,STRA6,STRA6 EXON Missense_H302L,Missense_H304L,Missense_H265L,Missense_H265L,Missense_H265L,Missense_H256L,Missense_H280L exm1176266 15 74487969 [A/T] NM_001199040,NM_001199042,NM_001142617,NM_001142618,NM_022369,NM_001142619,NM_001199041,NM_001142620 STRA6,STRA6,STRA6,STRA6,STRA6,STRA6,STRA6,STRA6 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_L152M exm1176269 15 74488367 [T/C] NM_001199040,NM_001199042,NM_001142617,NM_001142618,NM_022369,NM_001142619,NM_001199041,NM_001142620 STRA6,STRA6,STRA6,STRA6,STRA6,STRA6,STRA6,STRA6 EXON Missense_A167T,Missense_A169T,Missense_A130T,Missense_A130T,Missense_A130T,Missense_A121T,Missense_A145T,Missense_A130T exm1176271 15 74488369 [A/G] NM_001199040,NM_001199042,NM_001142617,NM_001142618,NM_022369,NM_001142619,NM_001199041,NM_001142620 STRA6,STRA6,STRA6,STRA6,STRA6,STRA6,STRA6,STRA6 EXON Missense_L166P,Missense_L168P,Missense_L129P,Missense_L129P,Missense_L129P,Missense_L120P,Missense_L144P,Missense_L129P exm2272265 15 74489153 [T/C] NM_001199040,NM_001199042,NM_001142617,NM_001142618,NM_022369,NM_001142619,NM_001199041,NM_001142620 STRA6,STRA6,STRA6,STRA6,STRA6,STRA6,STRA6,STRA6 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm1176281 15 74489706 [T/C] NM_001199040,NM_001199042,NM_001142617,NM_001142618,NM_022369,NM_001142619,NM_001199041,NM_001142620 STRA6,STRA6,STRA6,STRA6,STRA6,STRA6,STRA6,STRA6 EXON Missense_C117Y,Missense_C119Y,Missense_C80Y,Missense_C80Y,Missense_C80Y,Missense_C80Y,Missense_C95Y,Missense_C80Y exm1176282 15 74490093 [T/C] NM_001199040,NM_001199042,NM_001142617,NM_001142618,NM_022369,NM_001142619,NM_001199041,NM_001142620 STRA6,STRA6,STRA6,STRA6,STRA6,STRA6,STRA6,STRA6 EXON Synonymous_S97S,Synonymous_S99S,Synonymous_S60S,Synonymous_S60S,Synonymous_S60S,Synonymous_S60S,Synonymous_S75S,Synonymous_S60S exm1176284 15 74490100 [A/G] NM_001199040,NM_001199042,NM_001142617,NM_001142618,NM_022369,NM_001142619,NM_001199041,NM_001142620 STRA6,STRA6,STRA6,STRA6,STRA6,STRA6,STRA6,STRA6 EXON Missense_S95L,Missense_S97L,Missense_S58L,Missense_S58L,Missense_S58L,Missense_S58L,Missense_S73L,Missense_S58L exm1176285 15 74490128 [A/G] NM_001199040,NM_001199042,NM_001142617,NM_001142618,NM_022369,NM_001142619,NM_001199041,NM_001142620 STRA6,STRA6,STRA6,STRA6,STRA6,STRA6,STRA6,STRA6 EXON Missense_P86S,Missense_P88S,Missense_P49S,Missense_P49S,Missense_P49S,Missense_P49S,Missense_P64S,Missense_P49S exm1176286 15 74490132 [T/C] NM_001199040,NM_001199042,NM_001142617,NM_001142618,NM_022369,NM_001142619,NM_001199041,NM_001142620 STRA6,STRA6,STRA6,STRA6,STRA6,STRA6,STRA6,STRA6 EXON Missense_I84M,Missense_I86M,Missense_I47M,Missense_I47M,Missense_I47M,Missense_I47M,Missense_I62M,Missense_I47M exm1176290 15 74494515 [T/C] NM_001199040,NM_001199042,NM_001142617,NM_001142618,NM_022369,NM_001142619,NM_001199041,NM_001142620 STRA6,STRA6,STRA6,STRA6,STRA6,STRA6,STRA6,STRA6 EXON Missense_E69K,Missense_E71K,Missense_E32K,Missense_E32K,Missense_E32K,Missense_E32K,Missense_E47K,Missense_E32K exm1176291 15 74494518 [T/C] NM_001199040,NM_001199042,NM_001142617,NM_001142618,NM_022369,NM_001142619,NM_001199041,NM_001142620 STRA6,STRA6,STRA6,STRA6,STRA6,STRA6,STRA6,STRA6 EXON Missense_G68S,Missense_G70S,Missense_G31S,Missense_G31S,Missense_G31S,Missense_G31S,Missense_G46S,Missense_G31S exm1176294 15 74494544 [G/C] NM_001199040,NM_001199042,NM_001142617,NM_001142618,NM_022369,NM_001142619,NM_001199041,NM_001142620 STRA6,STRA6,STRA6,STRA6,STRA6,STRA6,STRA6,STRA6 EXON Missense_S59T,Missense_S61T,Missense_S22T,Missense_S22T,Missense_S22T,Missense_S22T,Missense_S37T,Missense_S22T exm1176306 15 74536356 [A/G] NM_025055 CCDC33 EXON Missense_A18T exm1176307 15 74536366 [T/G] NM_025055 CCDC33 EXON Missense_S21I exm1176311 15 74536403 [T/G] NM_025055 CCDC33 EXON Missense_K33N exm1176312 15 74536404 [A/G] NM_025055 CCDC33 EXON Missense_K34E exm1176315 15 74554789 [T/C] NM_025055 CCDC33 EXON Missense_T65I exm1176325 15 74560733 [A/C] NM_025055 CCDC33 EXON Nonsense_Y160X exm2223790 15 74560737 [A/G] NM_025055 CCDC33 EXON Missense_T162A exm1176330 15 74560776 [T/G] NM_025055 CCDC33 EXON Missense_G175C exm1176333 15 74564054 [A/G] NM_025055 CCDC33 EXON Missense_R186Q exm1176335 15 74564108 [A/G] NM_025055 CCDC33 EXON Missense_R204Q exm1176351 15 74573074 [T/C] NM_025055 CCDC33 EXON Missense_R319C exm1176354 15 74573128 [T/C] NM_025055 CCDC33 EXON Missense_R337W exm2264579 15 74581073 [A/C] NM_025055 CCDC33 Silent exm1839642 15 74588132 [T/C] NM_025055 CCDC33 EXON Missense_A378V exm1176358 15 74588188 [T/C] NM_025055 CCDC33 EXON Missense_S397P exm1176359 15 74588197 [A/G] NM_025055 CCDC33 EXON Missense_K400E exm1176364 15 74622533 [A/G] NM_025055 CCDC33 EXON Missense_M432V exm1176367 15 74622549 [T/G] NM_025055 CCDC33 EXON Missense_R437L exm1176368 15 74622633 [T/G] NM_025055 CCDC33 EXON Missense_S465I exm1176373 15 74622678 [A/G] NM_025055 CCDC33 EXON Missense_S480N exm1176374 15 74623091 [A/G] NM_025055 CCDC33 EXON Missense_R515Q exm1176380 15 74623422 [T/C] NM_025055 CCDC33 EXON Missense_A549V exm1176384 15 74623556 [A/G] NM_025055 CCDC33 EXON Missense_M564V exm1176391 15 74625055 [G/C] NM_025055 CCDC33 EXON Missense_G603R exm1176392 15 74625077 [T/C] NM_025055 CCDC33 EXON Missense_P610L exm1176396 15 74625121 [T/C] NM_025055 CCDC33 EXON Missense_R625W exm1176399 15 74625151 [T/C] NM_025055 CCDC33 EXON Nonsense_Q635X exm1839663 15 74625175 [A/C] NM_025055 CCDC33 EXON Missense_Q643K exm1176412 15 74627335 [A/G] NM_025055 CCDC33 EXON Missense_R682H exm1839670 15 74627499 [C/G] NM_025055 CCDC33 Silent exm1176450 15 74635368 [T/C] NM_000781,NM_001099773 CYP11A1,CYP11A1 EXON Missense_E314K,Missense_E156K exm1176461 15 74636309 [T/G] NM_000781,NM_001099773 CYP11A1,CYP11A1 EXON Missense_E217A,Missense_E59A exm1176465 15 74637436 [T/C] NM_000781,NM_001099773 CYP11A1,CYP11A1 EXON Missense_G192R,Missense_G34R exm1176466 15 74637475 [T/C] NM_000781,NM_001099773 CYP11A1,CYP11A1 EXON Missense_V179I,Missense_V21I exm1176471 15 74637532 [T/C] NM_000781,NM_001099773 CYP11A1,CYP11A1 EXON Missense_A160T,Missense_A2T exm1176481 15 74659692 [T/C] NM_000781 CYP11A1 EXON Missense_V79I exm1176488 15 74659841 [T/C] NM_000781 CYP11A1 EXON Missense_R29H exm2223792 15 74703021 [T/C] NM_001146029,NM_003612,NM_001146030 SEMA7A,SEMA7A,SEMA7A EXON Missense_A635T,Missense_A649T,Missense_A484T exm1176498 15 74703101 [T/C] NM_001146029,NM_003612,NM_001146030 SEMA7A,SEMA7A,SEMA7A EXON Missense_R608H,Missense_R622H,Missense_R457H exm1176499 15 74703102 [A/G] NM_001146029,NM_003612,NM_001146030 SEMA7A,SEMA7A,SEMA7A EXON Missense_R608C,Missense_R622C,Missense_R457C exm1176507 15 74703970 [T/C] NM_001146029,NM_003612,NM_001146030 SEMA7A,SEMA7A,SEMA7A EXON Missense_G488S,Missense_G502S,Missense_G337S exm1176531 15 74707189 [T/C] NM_001146029,NM_003612,NM_001146030 SEMA7A,SEMA7A,SEMA7A EXON Missense_R348Q,Missense_R362Q,Missense_R197Q exm1176534 15 74707205 [T/C] NM_001146029,NM_003612,NM_001146030 SEMA7A,SEMA7A,SEMA7A EXON Missense_S343G,Missense_S357G,Missense_S192G exm1839733 15 74707256 [T/C] NM_001146029,NM_003612,NM_001146030 SEMA7A,SEMA7A,SEMA7A EXON Missense_G326S,Missense_G340S,Missense_G175S exm1839737 15 74708223 [T/C] NM_001146029,NM_003612,NM_001146030 SEMA7A,SEMA7A,SEMA7A EXON Missense_R288K,Missense_R302K,Missense_R137K exm1176545 15 74709008 [T/C] NM_001146029,NM_003612,NM_001146030 SEMA7A,SEMA7A,SEMA7A EXON Missense_D223N,Missense_D237N,Missense_D72N exm1176550 15 74709717 [T/C] NM_001146029,NM_003612,NM_001146030 SEMA7A,SEMA7A,SEMA7A EXON Missense_R193Q,Missense_R207Q,Missense_R42Q exm1176559 15 74709961 [A/G] NM_001146029,NM_003612,NM_001146030 SEMA7A,SEMA7A,SEMA7A EXON Missense_P160L,Missense_P174L,Missense_P9L exm1176561 15 74709989 [T/C] NM_001146029,NM_003612,NM_001146030 SEMA7A,SEMA7A,SEMA7A EXON Missense_E151K,Missense_E165K,Silent exm1176573 15 74710638 [A/T] NM_001146029,NM_003612,NM_001146030 SEMA7A,SEMA7A,SEMA7A EXON Silent,Missense_S115T,Silent exm1176577 15 74711147 [A/G] NM_001146029,NM_003612,NM_001146030 SEMA7A,SEMA7A,SEMA7A EXON Missense_R109C,Missense_R109C,Silent exm1176580 15 74711182 [A/T] NM_001146029,NM_003612,NM_001146030 SEMA7A,SEMA7A,SEMA7A EXON Missense_L97H,Missense_L97H,Silent exm1176586 15 74711276 [A/G] NM_001146029,NM_003612,NM_001146030 SEMA7A,SEMA7A,SEMA7A EXON Missense_R66W,Missense_R66W,Silent exm1176598 15 74740880 [T/C] NM_032907,NM_201265 UBL7,UBL7 EXON Missense_N315S,Missense_N315S exm1176599 15 74740892 [A/G] NM_032907,NM_201265 UBL7,UBL7 EXON Missense_T311M,Missense_T311M exm1839768 15 74742385 [T/C] NM_032907,NM_201265 UBL7,UBL7 EXON Missense_V186I,Missense_V186I exm2223796 15 74743165 [T/C] NM_032907,NM_201265 UBL7,UBL7 EXON Missense_A170T,Missense_A170T exm1176625 15 74743796 [A/G] NM_032907,NM_201265 UBL7,UBL7 EXON Synonymous_S151S,Synonymous_S151S exm2252293 15 74743796 [A/G] NM_032907,NM_201265 UBL7,UBL7 EXON Synonymous_S151S,Synonymous_S151S exm1176640 15 74751139 [G/C] NM_032907,NM_201265 UBL7,UBL7 EXON Missense_R24G,Missense_R24G exm2223802 15 74865203 [A/G] NM_006465 ARID3B EXON Missense_N185D exm-rs7497036 15 74873679 [A/G] NM_006465 ARID3B Silent exm1176705 15 74884116 [A/G] NM_006465 ARID3B EXON Missense_A461T exm2223803 15 74884138 [T/G] NM_006465 ARID3B EXON Missense_I468S exm2272315 15 74884447 [T/C] NM_006465 ARID3B Silent exm2273529 15 74888196 [A/G] NM_006465 ARID3B EXON Silent exm1176744 15 74911680 [A/G] NM_003992,NM_001130028 CLK3,CLK3 EXON Missense_R48Q,Missense_R196Q exm1176750 15 74912388 [A/G] NM_003992,NM_001130028 CLK3,CLK3 EXON Missense_R64H,Missense_R212H exm1176759 15 74912502 [A/G] NM_003992,NM_001130028 CLK3,CLK3 EXON Missense_R102Q,Missense_R250Q exm2252294 15 74918245 [T/C] NM_003992,NM_001130028 CLK3,CLK3 EXON Synonymous_N251N,Synonymous_N399N exm1176774 15 74918245 [T/C] NM_003992,NM_001130028 CLK3,CLK3 EXON Synonymous_N251N,Synonymous_N399N exm1176800 15 74925045 [T/C] NM_025083,NM_001142443,NM_001142444 EDC3,EDC3,EDC3 EXON Missense_I479V,Missense_I479V,Missense_I479V exm1176810 15 74927840 [T/G] NM_025083,NM_001142443,NM_001142444 EDC3,EDC3,EDC3 EXON Missense_L368M,Missense_L368M,Missense_L368M exm1176819 15 74948075 [T/C] NM_025083,NM_001142443,NM_001142444 EDC3,EDC3,EDC3 EXON Synonymous_T273T,Synonymous_T273T,Synonymous_T273T exm1176820 15 74948095 [T/C] NM_025083,NM_001142443,NM_001142444 EDC3,EDC3,EDC3 EXON Missense_V267M,Missense_V267M,Missense_V267M exm1176821 15 74948110 [T/C] NM_025083,NM_001142443,NM_001142444 EDC3,EDC3,EDC3 EXON Missense_I262V,Missense_I262V,Missense_I262V exm1176829 15 74948380 [C/G] NM_025083,NM_001142443,NM_001142444 EDC3,EDC3,EDC3 EXON Missense_A172P,Missense_A172P,Missense_A172P exm1176838 15 74964021 [A/G] NM_025083,NM_001142443,NM_001142444 EDC3,EDC3,EDC3 EXON Missense_S87P,Missense_S87P,Missense_S87P exm1176839 15 74964024 [A/G] NM_025083,NM_001142443,NM_001142444 EDC3,EDC3,EDC3 EXON Missense_P86S,Missense_P86S,Missense_P86S exm1176843 15 74967357 [G/C] NM_025083,NM_001142443,NM_001142444 EDC3,EDC3,EDC3 EXON Missense_L37V,Missense_L37V,Missense_L37V exm1176844 15 74967428 [T/C] NM_025083,NM_001142443,NM_001142444 EDC3,EDC3,EDC3 EXON Missense_N13S,Missense_N13S,Missense_N13S exm2223805 15 75012894 [C/G] NM_000499 CYP1A1 EXON Missense_P492R exm1176854 15 75012925 [T/C] NM_000499 CYP1A1 EXON Missense_V482M exm1176857 15 75012940 [A/G] NM_000499 CYP1A1 EXON Missense_R477W exm1176859 15 75012979 [T/G] NM_000499 CYP1A1 EXON Missense_R464S exm1176861 15 75012985 [T/C] NM_000499 CYP1A1 EXON Missense_I462V exm1176862 15 75012987 [T/G] NM_000499 CYP1A1 EXON Missense_T461N exm1839877 15 75013005 [T/C] NM_000499 CYP1A1 EXON Missense_R455Q exm1176867 15 75013051 [T/C] NM_000499 CYP1A1 EXON Missense_D440N exm1176870 15 75013347 [T/C] NM_000499 CYP1A1 EXON Missense_R405H exm1839883 15 75013633 [T/C] NM_000499 CYP1A1 EXON Missense_R358Q exm1176880 15 75014027 [A/G] NM_000499 CYP1A1 EXON Missense_I286T exm1176883 15 75014049 [A/G] NM_000499 CYP1A1 EXON Missense_R279W exm1176890 15 75014718 [A/G] NM_000499 CYP1A1 EXON Missense_R241C exm1176891 15 75014727 [A/G] NM_000499 CYP1A1 EXON Missense_P238S exm1176895 15 75014793 [T/A] NM_000499 CYP1A1 EXON Missense_S216C exm1176898 15 75014825 [T/C] NM_000499 CYP1A1 EXON Missense_R205Q exm1176905 15 75014921 [G/C] NM_000499 CYP1A1 EXON Missense_T173R exm1176910 15 75015036 [A/G] NM_000499 CYP1A1 EXON Missense_R135W exm1176911 15 75015045 [C/G] NM_000499 CYP1A1 EXON Missense_A132P exm1176921 15 75015138 [T/C] NM_000499 CYP1A1 EXON Missense_D101N exm1176923 15 75015161 [T/C] NM_000499 CYP1A1 EXON Missense_R93Q exm1176924 15 75015162 [A/G] NM_000499 CYP1A1 EXON Missense_R93W exm1176926 15 75015197 [A/G] NM_000499 CYP1A1 EXON Missense_T81I exm1176927 15 75015206 [A/G] NM_000499 CYP1A1 EXON Missense_I78T exm1176935 15 75015305 [T/C] NM_000499 CYP1A1 EXON Missense_G45D exm-rs2472297 15 75027880 [T/C] exm-rs2472299 15 75033400 [A/G] exm1176941 15 75042087 [T/C] NM_000761 CYP1A2 EXON Missense_L3S exm1176944 15 75042132 [G/C] NM_000761 CYP1A2 EXON Missense_S18C exm1176946 15 75042153 [T/G] NM_000761 CYP1A2 EXON Missense_F25C exm1176949 15 75042198 [A/G] NM_000761 CYP1A2 EXON Missense_K40R exm2223809 15 75042217 [A/G] NM_000761 CYP1A2 EXON Nonsense_W46X exm1176951 15 75042221 [T/G] NM_000761 CYP1A2 EXON Missense_W48G exm1176954 15 75042273 [T/C] NM_000761 CYP1A2 EXON Missense_L65P exm1176957 15 75042296 [A/G] NM_000761 CYP1A2 EXON Missense_G73R exm1176958 15 75042302 [A/G] NM_000761 CYP1A2 EXON Missense_V75I exm1176960 15 75042327 [T/C] NM_000761 CYP1A2 EXON Missense_T83M exm1176967 15 75042389 [A/G] NM_000761 CYP1A2 EXON Missense_D104N exm1176975 15 75042492 [A/G] NM_000761 CYP1A2 EXON Missense_R138H exm1176983 15 75042674 [A/G] NM_000761 CYP1A2 EXON Missense_V199I exm1176986 15 75042692 [T/G] NM_000761 CYP1A2 EXON Missense_F205V exm1839908 15 75042695 [A/G] NM_000761 CYP1A2 EXON Missense_G206R exm1176991 15 75043539 [T/C] NM_000761 CYP1A2 EXON Missense_R281W exm1176994 15 75043592 [A/C] NM_000761 CYP1A2 EXON Missense_S298R exm1176995 15 75043593 [A/G] NM_000761 CYP1A2 EXON Missense_G299S exm1177000 15 75044195 [A/G] NM_000761 CYP1A2 EXON Missense_D348N exm-rs2472304 15 75044238 [A/G] NM_000761 CYP1A2 Silent exm1177002 15 75044485 [T/C] NM_000761 CYP1A2 EXON Missense_R355W exm2274770 15 75044489 [A/G] NM_000761 CYP1A2 EXON Missense_R356Q exm1177015 15 75047161 [A/G] NM_000761 CYP1A2 EXON Missense_R428Q exm1177016 15 75047169 [T/C] NM_000761 CYP1A2 EXON Missense_R431W exm1177019 15 75047191 [T/C] NM_000761 CYP1A2 EXON Missense_T438I exm1177033 15 75047400 [T/C] NM_000761 CYP1A2 EXON Nonsense_Q508X exm2223813 15 75047412 [T/C] NM_000761 CYP1A2 EXON Missense_R512C exm2267788 15 75052994 [A/G] exm-rs1378942 15 75077367 [A/C] NM_004383,NM_001127190 CSK,CSK Silent,Silent exm2223815 15 75091204 [A/G] NM_004383,NM_001127190 CSK,CSK EXON Missense_R56H,Missense_R56H exm1177076 15 75093909 [A/G] NM_004383,NM_001127190 CSK,CSK EXON Missense_G287D,Missense_G287D exm1177089 15 75094709 [A/G] NM_004383,NM_001127190 CSK,CSK EXON Missense_Y403C,Missense_Y403C exm1177091 15 75094780 [A/G] NM_004383,NM_001127190 CSK,CSK EXON Missense_A427T,Missense_A427T exm1177092 15 75094783 [A/G] NM_004383,NM_001127190 CSK,CSK EXON Missense_A428T,Missense_A428T exm1177097 15 75105200 [T/C] NM_021819 LMAN1L EXON Missense_P2L exm1177101 15 75105287 [A/G] NM_021819 LMAN1L EXON Missense_R31H exm1177107 15 75108636 [A/G] NM_021819 LMAN1L EXON Missense_R105Q exm1177119 15 75111129 [T/C] NM_021819 LMAN1L EXON Missense_R190W exm1177122 15 75111156 [T/C] NM_021819 LMAN1L EXON Missense_R199C exm1177124 15 75111159 [A/G] NM_021819 LMAN1L Silent exm1177125 15 75111514 [A/C] NM_021819 LMAN1L EXON Missense_T207P exm1177127 15 75111530 [A/G] NM_021819 LMAN1L EXON Missense_G212D exm1177136 15 75112974 [A/G] NM_021819 LMAN1L Silent exm1177142 15 75113040 [A/G] NM_021819 LMAN1L EXON Nonsense_W280X exm1177147 15 75113458 [A/G] NM_021819 LMAN1L EXON Missense_R317H exm1839968 15 75113460 [G/C] NM_021819 LMAN1L EXON Missense_R318G exm1177148 15 75113461 [A/G] NM_021819 LMAN1L EXON Missense_R318Q exm1177156 15 75114242 [A/G] NM_021819 LMAN1L Silent exm1177159 15 75115920 [T/C] NM_021819 LMAN1L EXON Missense_A407V exm1177166 15 75116009 [T/C] NM_021819 LMAN1L EXON Missense_L437F exm1177167 15 75116023 [A/G] NM_021819 LMAN1L EXON Synonymous_A441A exm1177170 15 75116734 [A/G] NM_021819 LMAN1L EXON Missense_R456G exm1177176 15 75116809 [A/G] NM_021819 LMAN1L EXON Missense_V481M exm1177182 15 75117912 [T/G] NM_021819 LMAN1L EXON Missense_R516M exm1177186 15 75119123 [A/G] NM_001030005 CPLX3 EXON Missense_G27R exm1177201 15 75122525 [A/C] NM_001030005 CPLX3 EXON Synonymous_R103R exm1177207 15 75122644 [C/G] NM_001030005 CPLX3 EXON Missense_Q142H exm-rs6495122 15 75125645 [A/C] exm1177209 15 75129584 [A/C] NM_001099436 ULK3 EXON Synonymous_S468S exm1177217 15 75130093 [T/C] NM_001099436 ULK3 EXON Missense_K445R exm2223820 15 75130504 [T/G] NM_001099436 ULK3 EXON Missense_L426I exm1177244 15 75132021 [A/G] NM_001099436 ULK3 EXON Missense_R244W exm1177263 15 75133820 [T/G] NM_001099436 ULK3 EXON Missense_N132T exm1177268 15 75133849 [A/G] NM_001099436 ULK3 EXON Synonymous_A122A exm1840018 15 75134417 [T/C] NM_001099436 ULK3 EXON Synonymous_L121L exm1177270 15 75134478 [T/C] NM_001099436 ULK3 EXON Missense_R101H exm1177274 15 75134523 [T/C] NM_001099436 ULK3 EXON Missense_N86S exm2276393 15 75134737 [T/C] NM_001099436 ULK3 EXON Missense_I43V exm1177286 15 75137443 [T/C] NM_005697 SCAMP2 EXON Missense_G324E exm1177289 15 75137539 [T/C] NM_005697 SCAMP2 EXON Missense_R292Q exm1840031 15 75137885 [A/G] NM_005697 SCAMP2 EXON Missense_S262P exm1177299 15 75142891 [A/C] NM_005697 SCAMP2 EXON Missense_F199C exm2223821 15 75143739 [G/C] NM_005697 SCAMP2 EXON Missense_A143P exm1177308 15 75144443 [A/G] NM_005697 SCAMP2 EXON Missense_R104W exm1177316 15 75146366 [T/G] NM_005697 SCAMP2 EXON Missense_P74H exm1177318 15 75146379 [T/A] NM_005697 SCAMP2 EXON Missense_T70S exm1177321 15 75146405 [A/G] NM_005697 SCAMP2 EXON Missense_A61V exm1177323 15 75146450 [A/G] NM_005697 SCAMP2 EXON Missense_A46V exm1177336 15 75182424 [T/C] NM_002435 MPI EXON Missense_P4S exm1840058 15 75183742 [A/G] NM_002435 MPI EXON Missense_R56Q exm1177347 15 75183789 [A/C] NM_002435 MPI EXON Missense_S72R exm1177357 15 75185070 [A/G] NM_002435 MPI EXON Missense_M138I exm1177365 15 75185646 [T/C] NM_002435 MPI EXON Missense_R219W exm1177380 15 75188640 [A/G] NM_002435 MPI EXON Missense_N273S exm1177384 15 75189415 [T/C] NM_002435 MPI EXON Missense_I303T exm1177385 15 75189427 [T/C] NM_002435 MPI EXON Missense_T307I exm1177390 15 75189489 [T/C] NM_002435 MPI EXON Missense_R328W exm1177394 15 75189556 [T/C] NM_002435 MPI EXON Missense_T350M exm2252298 15 75189930 [A/G] NM_002435 MPI EXON Synonymous_V377V exm1177403 15 75189938 [A/G] NM_002435 MPI EXON Missense_S380N exm1177408 15 75190031 [T/C] NM_002435 MPI EXON Missense_P411L exm1177412 15 75195037 [C/G] NM_020447 FAM219B EXON Missense_P174A exm1177414 15 75195069 [A/C] NM_020447 FAM219B EXON Missense_I163S exm1177424 15 75197557 [G/C] NM_020447 FAM219B EXON Missense_N106K exm1177452 15 75219219 [A/G] NM_004255 COX5A EXON Missense_T76I exm1177453 15 75221462 [T/C] NM_004255 COX5A EXON Missense_R71H exm1840090 15 75248443 [T/G] NM_017793 RPP25 EXON Nonsense_S161X exm1177510 15 75310308 [A/G] NM_001178111,NM_001178112,NM_138967,NR_033660 SCAMP5,SCAMP5,SCAMP5,SCAMP5 EXON Missense_V131I,Missense_V131I,Missense_V131I,Silent exm1177519 15 75311196 [A/G] NM_001178111,NM_001178112,NM_138967,NR_033660 SCAMP5,SCAMP5,SCAMP5,SCAMP5 EXON Missense_A194T,Missense_A194T,Missense_A194T,Silent exm1177534 15 75335872 [T/C] NM_021823 PPCDC EXON Missense_W76R exm1177539 15 75336760 [A/G] NM_021823 PPCDC EXON Missense_I89V exm1177542 15 75340900 [A/G] NM_021823 PPCDC EXON Missense_V123I exm1177545 15 75340919 [A/G] NM_021823 PPCDC EXON Missense_R129H exm1177557 15 75341523 [A/G] NM_021823 PPCDC EXON Missense_V188M exm-rs12148488 15 75382542 [T/G] exm2264565 15 75393720 [A/C] exm1177565 15 75498447 [T/C] NM_015492 C15orf39 EXON Missense_R20C exm1177569 15 75498486 [T/C] NM_015492 C15orf39 EXON Missense_H33Y exm1177577 15 75498615 [A/G] NM_015492 C15orf39 EXON Missense_G76S exm1177579 15 75498642 [A/G] NM_015492 C15orf39 EXON Missense_D85N exm1177582 15 75498681 [T/G] NM_015492 C15orf39 EXON Missense_A98S exm1177583 15 75498682 [T/C] NM_015492 C15orf39 EXON Missense_A98V exm1177585 15 75498744 [G/C] NM_015492 C15orf39 EXON Missense_A119P exm1177591 15 75498874 [T/C] NM_015492 C15orf39 EXON Missense_A162V exm1177593 15 75498943 [G/C] NM_015492 C15orf39 EXON Missense_T185S exm1177599 15 75499062 [T/G] NM_015492 C15orf39 EXON Missense_F225V exm1177603 15 75499135 [T/C] NM_015492 C15orf39 EXON Missense_P249L exm1177608 15 75499257 [T/C] NM_015492 C15orf39 EXON Missense_R290C exm1177619 15 75499485 [T/C] NM_015492 C15orf39 EXON Missense_R366W exm1840153 15 75499551 [T/C] NM_015492 C15orf39 EXON Missense_Y388H exm1177626 15 75499620 [A/G] NM_015492 C15orf39 EXON Missense_G411S exm1177628 15 75499654 [T/C] NM_015492 C15orf39 EXON Missense_A422V exm1177629 15 75499661 [T/G] NM_015492 C15orf39 EXON Missense_Q424H exm1177639 15 75499807 [A/C] NM_015492 C15orf39 EXON Missense_P473H exm1840155 15 75499819 [C/G] NM_015492 C15orf39 EXON Missense_P477R exm1177640 15 75499821 [T/C] NM_015492 C15orf39 EXON Missense_P478S exm1177642 15 75499861 [A/G] NM_015492 C15orf39 EXON Missense_G491D exm1177646 15 75499927 [A/G] NM_015492 C15orf39 EXON Missense_R513H exm1177650 15 75499995 [T/G] NM_015492 C15orf39 EXON Missense_S536A exm1177657 15 75500164 [A/G] NM_015492 C15orf39 EXON Missense_R592H exm1177670 15 75500398 [T/C] NM_015492 C15orf39 EXON Missense_T670M exm1177675 15 75500529 [A/G] NM_015492 C15orf39 EXON Missense_V714I exm1177688 15 75500713 [T/G] NM_015492 C15orf39 EXON Missense_C775F exm1177697 15 75500776 [T/C] NM_015492 C15orf39 EXON Missense_T796M exm2252301 15 75500777 [A/G] NM_015492 C15orf39 EXON Synonymous_T796T exm1177701 15 75500868 [A/C] NM_015492 C15orf39 EXON Missense_R827S exm1177709 15 75500967 [A/G] NM_015492 C15orf39 EXON Missense_A860T exm1177717 15 75501106 [T/C] NM_015492 C15orf39 EXON Missense_P906L exm1177723 15 75503126 [T/C] NM_015492 C15orf39 EXON Missense_S938L exm1177725 15 75503147 [A/G] NM_015492 C15orf39 EXON Missense_G945D exm1177727 15 75503193 [T/G] NM_015492 C15orf39 EXON Missense_K960N exm1177728 15 75503198 [A/G] NM_015492 C15orf39 EXON Missense_R962K exm1177734 15 75503333 [A/G] NM_015492 C15orf39 EXON Missense_R1007H exm1177739 15 75503399 [A/G] NM_015492 C15orf39 EXON Missense_R1029K exm1177807 15 75632170 [C/G] NM_017828 COMMD4 EXON Missense_Q170H exm2274773 15 75632184 [C/G] NM_017828 COMMD4 EXON Missense_S175C exm1177811 15 75632329 [A/C] NM_017828 COMMD4 EXON Missense_M195L exm1177820 15 75641367 [C/G] NM_024608,NR_046311,NM_001256552 NEIL1,NEIL1,NEIL1 EXON Missense_E41Q,Silent,Missense_E127Q exm1177821 15 75641392 [G/C] NM_024608,NR_046311,NM_001256552 NEIL1,NEIL1,NEIL1 EXON Missense_A49G,Silent,Missense_A135G exm1840209 15 75641449 [A/C] NM_024608,NR_046311,NM_001256552 NEIL1,NEIL1,NEIL1 EXON Missense_P68H,Silent,Missense_P154H exm1177826 15 75641494 [A/G] NM_024608,NR_046311,NM_001256552 NEIL1,NEIL1,NEIL1 EXON Missense_G83D,Silent,Missense_G169D exm1177837 15 75641682 [T/C] NM_024608,NR_046311,NM_001256552 NEIL1,NEIL1,NEIL1 Silent,Silent,Silent exm1177842 15 75644563 [C/G] NM_024608,NR_046311,NM_001256552 NEIL1,NEIL1,NEIL1 EXON Missense_I182M,Silent,Missense_I268M exm1177844 15 75644571 [A/G] NM_024608,NR_046311,NM_001256552 NEIL1,NEIL1,NEIL1 EXON Missense_R185Q,Silent,Missense_R271Q exm1177856 15 75646080 [C/G] NM_024608,NR_046311,NM_001256552 NEIL1,NEIL1,NEIL1 EXON Missense_G240A,Silent,Missense_G326A exm1177858 15 75646094 [A/G] NM_024608,NR_046311,NM_001256552 NEIL1,NEIL1,NEIL1 EXON Missense_G245R,Silent,Missense_G331R exm1177859 15 75646106 [A/G] NM_024608,NR_046311,NM_001256552 NEIL1,NEIL1,NEIL1 EXON Missense_G249R,Silent,Missense_G335R exm1177860 15 75646115 [A/G] NM_024608,NR_046311,NM_001256552 NEIL1,NEIL1,NEIL1 EXON Missense_D252N,Silent,Missense_D338N exm1177864 15 75646194 [T/C] NM_024608,NR_046311,NM_001256552 NEIL1,NEIL1,NEIL1 EXON Missense_T278I,Silent,Missense_T364I exm1177868 15 75646594 [G/C] NM_024608,NR_046311,NM_001256552 NEIL1,NEIL1,NEIL1 EXON Missense_D284H,Silent,Missense_D370H exm1177873 15 75647018 [G/C] NM_024608,NR_046311,NM_001256552 NEIL1,NEIL1,NEIL1 EXON Missense_P321A,Silent,Missense_P407A exm1177874 15 75647024 [A/G] NM_024608,NR_046311,NM_001256552 NEIL1,NEIL1,NEIL1 EXON Missense_R323G,Silent,Missense_R409G exm1177879 15 75647073 [A/G] NM_024608,NR_046311,NM_001256552 NEIL1,NEIL1,NEIL1 EXON Missense_R339Q,Silent,Missense_R425Q exm1177898 15 75648541 [T/C] NM_001256495,NM_001256494,NM_001256496,NM_006715 MAN2C1,MAN2C1,MAN2C1,MAN2C1 EXON Missense_R946H,Missense_R986H,Missense_R870H,Missense_R969H exm1177901 15 75648650 [T/C] NM_001256495,NM_001256494,NM_001256496,NM_006715 MAN2C1,MAN2C1,MAN2C1,MAN2C1 EXON Missense_V937I,Missense_V977I,Missense_V861I,Missense_V960I exm1177902 15 75648662 [T/C] NM_001256495,NM_001256494,NM_001256496,NM_006715 MAN2C1,MAN2C1,MAN2C1,MAN2C1 EXON Missense_V933I,Missense_V973I,Missense_V857I,Missense_V956I exm1177908 15 75648770 [T/C] NM_001256495,NM_001256494,NM_001256496,NM_006715 MAN2C1,MAN2C1,MAN2C1,MAN2C1 EXON Silent,Missense_V937I,Missense_V821I,Missense_V920I exm1840243 15 75648983 [A/G] NM_001256495,NM_001256494,NM_001256496,NM_006715 MAN2C1,MAN2C1,MAN2C1,MAN2C1 EXON Missense_R901C,Missense_R918C,Missense_R802C,Missense_R901C exm1177922 15 75649159 [A/G] NM_001256495,NM_001256494,NM_001256496,NM_006715 MAN2C1,MAN2C1,MAN2C1,MAN2C1 EXON Nonsense_R878X,Nonsense_R895X,Nonsense_R779X,Nonsense_R878X exm1177927 15 75649179 [G/C] NM_001256495,NM_001256494,NM_001256496,NM_006715 MAN2C1,MAN2C1,MAN2C1,MAN2C1 EXON Missense_C871S,Missense_C888S,Missense_C772S,Missense_C871S exm1840245 15 75650631 [A/G] NM_001256495,NM_001256494,NM_001256496,NM_006715 MAN2C1,MAN2C1,MAN2C1,MAN2C1 EXON Missense_R820W,Missense_R837W,Missense_R721W,Missense_R820W exm1177937 15 75650636 [T/C] NM_001256495,NM_001256494,NM_001256496,NM_006715 MAN2C1,MAN2C1,MAN2C1,MAN2C1 EXON Missense_R818H,Missense_R835H,Missense_R719H,Missense_R818H exm1177939 15 75650822 [T/C] NM_001256495,NM_001256494,NM_001256496,NM_006715 MAN2C1,MAN2C1,MAN2C1,MAN2C1 EXON Missense_Y795C,Missense_Y812C,Missense_Y696C,Missense_Y795C exm1177940 15 75650828 [T/C] NM_001256495,NM_001256494,NM_001256496,NM_006715 MAN2C1,MAN2C1,MAN2C1,MAN2C1 EXON Missense_C793Y,Missense_C810Y,Missense_C694Y,Missense_C793Y exm1177943 15 75650895 [A/C] NM_001256495,NM_001256494,NM_001256496,NM_006715 MAN2C1,MAN2C1,MAN2C1,MAN2C1 EXON Missense_A771S,Missense_A788S,Missense_A672S,Missense_A771S exm1177944 15 75650903 [T/C] NM_001256495,NM_001256494,NM_001256496,NM_006715 MAN2C1,MAN2C1,MAN2C1,MAN2C1 EXON Missense_R768Q,Missense_R785Q,Missense_R669Q,Missense_R768Q exm1177958 15 75651087 [T/C] NM_001256495,NM_001256494,NM_001256496,NM_006715 MAN2C1,MAN2C1,MAN2C1,MAN2C1 EXON Missense_Y735C,Missense_Y752C,Missense_Y636C,Missense_Y735C exm1177959 15 75651094 [A/G] NM_001256495,NM_001256494,NM_001256496,NM_006715 MAN2C1,MAN2C1,MAN2C1,MAN2C1 EXON Missense_P733S,Missense_P750S,Missense_P634S,Missense_P733S exm1177962 15 75651127 [T/C] NM_001256495,NM_001256494,NM_001256496,NM_006715 MAN2C1,MAN2C1,MAN2C1,MAN2C1 EXON Missense_V722M,Missense_V739M,Missense_V623M,Missense_V722M exm1177965 15 75651138 [T/G] NM_001256495,NM_001256494,NM_001256496,NM_006715 MAN2C1,MAN2C1,MAN2C1,MAN2C1 EXON Missense_A718D,Missense_A735D,Missense_A619D,Missense_A718D exm1177966 15 75651482 [T/C] NM_001256495,NM_001256494,NM_001256496,NM_006715 MAN2C1,MAN2C1,MAN2C1,MAN2C1 EXON Missense_V687M,Missense_V704M,Missense_V588M,Missense_V687M exm1177970 15 75651722 [C/G] NM_001256495,NM_001256494,NM_001256496,NM_006715 MAN2C1,MAN2C1,MAN2C1,MAN2C1 EXON Missense_P665A,Missense_P669R,Missense_P566A,Missense_P665A exm1177973 15 75651961 [T/C] NM_001256495,NM_001256494,NM_001256496,NM_006715 MAN2C1,MAN2C1,MAN2C1,MAN2C1 EXON Missense_A650T,Missense_G650S,Missense_A551T,Missense_A650T exm1177975 15 75651976 [T/C] NM_001256495,NM_001256494,NM_001256496,NM_006715 MAN2C1,MAN2C1,MAN2C1,MAN2C1 EXON Missense_G645R,Missense_G645R,Missense_G546R,Missense_G645R exm1177977 15 75651981 [A/G] NM_001256495,NM_001256494,NM_001256496,NM_006715 MAN2C1,MAN2C1,MAN2C1,MAN2C1 EXON Missense_P643L,Missense_P643L,Missense_P544L,Missense_P643L exm1177985 15 75652110 [T/C] NM_001256495,NM_001256494,NM_001256496,NM_006715 MAN2C1,MAN2C1,MAN2C1,MAN2C1 EXON Missense_R600H,Missense_R600H,Missense_R501H,Missense_R600H exm2252303 15 75652326 [G/C] NM_001256495,NM_001256494,NM_001256496,NM_006715 MAN2C1,MAN2C1,MAN2C1,MAN2C1 EXON Synonymous_L570L,Synonymous_L570L,Synonymous_L471L,Synonymous_L570L exm1177991 15 75652470 [T/C] NM_001256495,NM_001256494,NM_001256496,NM_006715 MAN2C1,MAN2C1,MAN2C1,MAN2C1 EXON Missense_Q556R,Missense_Q556R,Missense_Q457R,Missense_Q556R exm1177992 15 75652479 [T/C] NM_001256495,NM_001256494,NM_001256496,NM_006715 MAN2C1,MAN2C1,MAN2C1,MAN2C1 EXON Missense_R553H,Missense_R553H,Missense_R454H,Missense_R553H exm1177994 15 75652482 [A/G] NM_001256495,NM_001256494,NM_001256496,NM_006715 MAN2C1,MAN2C1,MAN2C1,MAN2C1 EXON Missense_A552V,Missense_A552V,Missense_A453V,Missense_A552V exm1177998 15 75652907 [A/T] NM_001256495,NM_001256494,NM_001256496,NM_006715 MAN2C1,MAN2C1,MAN2C1,MAN2C1 EXON Missense_Q528L,Missense_Q528L,Missense_Q429L,Missense_Q528L exm1178016 15 75653685 [T/C] NM_001256495,NM_001256494,NM_001256496,NM_006715 MAN2C1,MAN2C1,MAN2C1,MAN2C1 EXON Missense_R419H,Missense_R419H,Missense_R320H,Missense_R419H exm1178020 15 75653996 [G/C] NM_001256495,NM_001256494,NM_001256496,NM_006715 MAN2C1,MAN2C1,MAN2C1,MAN2C1 EXON Missense_I389M,Missense_I389M,Missense_I290M,Missense_I389M exm1178028 15 75654685 [A/G] NM_001256495,NM_001256494,NM_001256496,NM_006715 MAN2C1,MAN2C1,MAN2C1,MAN2C1 EXON Missense_M336T,Missense_M336T,Missense_M237T,Missense_M336T exm1178035 15 75656445 [T/C] NM_001256495,NM_001256494,NM_001256496,NM_006715 MAN2C1,MAN2C1,MAN2C1,MAN2C1 EXON Missense_E229K,Missense_E229K,Silent,Missense_E229K exm1178038 15 75656475 [T/C] NM_001256495,NM_001256494,NM_001256496,NM_006715 MAN2C1,MAN2C1,MAN2C1,MAN2C1 EXON Missense_M219V,Missense_M219V,Silent,Missense_M219V exm1178039 15 75656523 [T/C] NM_001256495,NM_001256494,NM_001256496,NM_006715 MAN2C1,MAN2C1,MAN2C1,MAN2C1 EXON Missense_G203R,Missense_G203R,Silent,Missense_G203R exm1178040 15 75656531 [T/C] NM_001256495,NM_001256494,NM_001256496,NM_006715 MAN2C1,MAN2C1,MAN2C1,MAN2C1 Silent,Silent,Silent,Silent exm1178047 15 75656913 [G/C] NM_001256495,NM_001256494,NM_001256496,NM_006715 MAN2C1,MAN2C1,MAN2C1,MAN2C1 EXON Missense_Q172H,Missense_Q172H,Missense_Q172H,Missense_Q172H exm1178053 15 75656977 [T/C] NM_001256495,NM_001256494,NM_001256496,NM_006715 MAN2C1,MAN2C1,MAN2C1,MAN2C1 EXON Missense_N151S,Missense_N151S,Missense_N151S,Missense_N151S exm1178054 15 75656978 [T/G] NM_001256495,NM_001256494,NM_001256496,NM_006715 MAN2C1,MAN2C1,MAN2C1,MAN2C1 EXON Missense_N151H,Missense_N151H,Missense_N151H,Missense_N151H exm1178057 15 75658862 [T/C] NM_001256495,NM_001256494,NM_001256496,NM_006715 MAN2C1,MAN2C1,MAN2C1,MAN2C1 Silent,Silent,Silent,Silent exm1178072 15 75664471 [T/C] NM_001145358,NM_015477,NM_001145357 SIN3A,SIN3A,SIN3A EXON Missense_R1224H,Missense_R1224H,Missense_R1224H exm1178073 15 75664472 [A/G] NM_001145358,NM_015477,NM_001145357 SIN3A,SIN3A,SIN3A EXON Missense_R1224C,Missense_R1224C,Missense_R1224C exm1178078 15 75668131 [A/T] NM_001145358,NM_015477,NM_001145357 SIN3A,SIN3A,SIN3A EXON Missense_M1156L,Missense_M1156L,Missense_M1156L exm1178117 15 75684852 [G/C] NM_001145358,NM_015477,NM_001145357 SIN3A,SIN3A,SIN3A EXON Missense_P861R,Missense_P861R,Missense_P861R exm1178118 15 75684870 [T/C] NM_001145358,NM_015477,NM_001145357 SIN3A,SIN3A,SIN3A EXON Missense_N855S,Missense_N855S,Missense_N855S exm1178121 15 75685083 [T/C] NM_001145358,NM_015477,NM_001145357 SIN3A,SIN3A,SIN3A EXON Missense_K784R,Missense_K784R,Missense_K784R exm1178179 15 75703979 [T/C] NM_001145358,NM_015477,NM_001145357 SIN3A,SIN3A,SIN3A EXON Missense_I288V,Missense_I288V,Missense_I288V exm1178182 15 75704005 [A/G] NM_001145358,NM_015477,NM_001145357 SIN3A,SIN3A,SIN3A EXON Missense_P279L,Missense_P279L,Missense_P279L exm-rs8028182 15 75718669 [T/G] NM_001145358,NM_015477,NM_001145357 SIN3A,SIN3A,SIN3A Silent,Silent,Silent exm-rs4886707 15 75755467 [T/C] exm1178220 15 75763044 [T/C] NM_002833 PTPN9 EXON Missense_T446A exm1840359 15 75766087 [T/C] NM_002833 PTPN9 EXON Missense_R384H exm1178231 15 75798043 [T/A] NM_002833 PTPN9 EXON Missense_N314I exm1178232 15 75798049 [T/C] NM_002833 PTPN9 EXON Missense_R312H exm1178233 15 75798058 [A/T] NM_002833 PTPN9 EXON Missense_D309V exm1178244 15 75801350 [A/C] NM_002833 PTPN9 EXON Missense_L183V exm2223854 15 75816632 [A/C] NM_002833 PTPN9 EXON Missense_R72L exm1178271 15 75890761 [T/G] NM_001042588,NM_005701,NM_001042581 SNUPN,SNUPN,SNUPN EXON Missense_T341P,Missense_T341P,Missense_T341P exm1178273 15 75890842 [T/C] NM_001042588,NM_005701,NM_001042581 SNUPN,SNUPN,SNUPN EXON Missense_K314E,Missense_K314E,Missense_K314E exm1178278 15 75890901 [A/G] NM_001042588,NM_005701,NM_001042581 SNUPN,SNUPN,SNUPN EXON Missense_P294L,Missense_P294L,Missense_P294L exm1178282 15 75890934 [C/G] NM_001042588,NM_005701,NM_001042581 SNUPN,SNUPN,SNUPN EXON Nonsense_S283X,Nonsense_S283X,Nonsense_S283X exm1178285 15 75890977 [T/C] NM_001042588,NM_005701,NM_001042581 SNUPN,SNUPN,SNUPN EXON Missense_G269R,Missense_G269R,Missense_G269R exm1178290 15 75893532 [A/G] NM_001042588,NM_005701,NM_001042581 SNUPN,SNUPN,SNUPN EXON Missense_P236S,Missense_P236S,Missense_P236S exm1178294 15 75899604 [T/C] NM_001042588,NM_005701,NM_001042581 SNUPN,SNUPN,SNUPN EXON Missense_V185I,Missense_V185I,Missense_V185I exm1178296 15 75901899 [G/C] NM_001042588,NM_005701,NM_001042581 SNUPN,SNUPN,SNUPN EXON Missense_D168H,Missense_D168H,Missense_D168H exm1178298 15 75901922 [T/C] NM_001042588,NM_005701,NM_001042581 SNUPN,SNUPN,SNUPN EXON Missense_N160S,Missense_N160S,Missense_N160S exm1178304 15 75902275 [T/C] NM_001042588,NM_005701,NM_001042581 SNUPN,SNUPN,SNUPN EXON Missense_V122I,Missense_V122I,Missense_V122I exm1178315 15 75913260 [A/G] NM_001042588,NM_005701,NM_001042581 SNUPN,SNUPN,SNUPN EXON Missense_R45W,Missense_R45W,Missense_R45W exm1178317 15 75913266 [A/G] NM_001042588,NM_005701,NM_001042581 SNUPN,SNUPN,SNUPN EXON Missense_R43C,Missense_R43C,Missense_R43C exm1178320 15 75913314 [A/G] NM_001042588,NM_005701,NM_001042581 SNUPN,SNUPN,SNUPN EXON Missense_R27C,Missense_R27C,Missense_R27C exm2272266 15 75930199 [T/C] exm1178328 15 75931966 [G/C] NM_018285 IMP3 EXON Missense_L182V exm1178341 15 75932172 [A/G] NM_018285 IMP3 EXON Missense_T113I exm1178363 15 75941825 [A/G] NM_153271 SNX33 EXON Missense_E128K exm1178365 15 75941862 [A/G] NM_153271 SNX33 EXON Missense_H140R exm1178368 15 75941897 [T/C] NM_153271 SNX33 EXON Missense_P152S exm1840407 15 75941922 [T/C] NM_153271 SNX33 EXON Missense_P160L exm1178383 15 75942219 [G/C] NM_153271 SNX33 EXON Missense_A259G exm1178386 15 75942326 [A/G] NM_153271 SNX33 EXON Missense_T295A exm1178398 15 75942786 [A/G] NM_153271 SNX33 EXON Missense_R448H exm1178404 15 75949333 [A/G] NM_153271 SNX33 EXON Missense_R501H exm1178405 15 75949339 [C/G] NM_153271 SNX33 EXON Missense_S503T exm1178413 15 75949439 [C/G] NM_153271 SNX33 EXON Missense_Q536H exm1178416 15 75949456 [A/T] NM_153271 SNX33 EXON Missense_F542Y exm1178429 15 75968078 [T/G] NM_001897 CSPG4 EXON Missense_T2261N exm1178446 15 75968355 [A/G] NM_001897 CSPG4 EXON Missense_R2169W exm1178454 15 75968547 [T/C] NM_001897 CSPG4 EXON Missense_G2105R exm1178466 15 75968739 [T/C] NM_001897 CSPG4 EXON Missense_V2041I exm1178469 15 75968759 [T/C] NM_001897 CSPG4 EXON Missense_N2034S exm1178476 15 75968921 [T/C] NM_001897 CSPG4 EXON Missense_R1980H exm1178483 15 75969053 [T/C] NM_001897 CSPG4 EXON Missense_D1936G exm1178486 15 75969152 [T/C] NM_001897 CSPG4 EXON Missense_R1903Q exm1178493 15 75969335 [T/C] NM_001897 CSPG4 EXON Missense_R1842Q exm1178509 15 75970070 [T/C] NM_001897 CSPG4 EXON Missense_R1703H exm1178511 15 75970127 [T/C] NM_001897 CSPG4 EXON Missense_R1684Q exm1178512 15 75970128 [A/G] NM_001897 CSPG4 EXON Missense_R1684W exm1178515 15 75970169 [A/G] NM_001897 CSPG4 EXON Missense_A1670V exm1178533 15 75975055 [T/C] NM_001897 CSPG4 EXON Missense_R1559H exm1178534 15 75975061 [T/C] NM_001897 CSPG4 EXON Missense_R1557H exm1178654 15 75980768 [A/G] NM_001897 CSPG4 EXON Missense_P880S exm1178668 15 75981154 [T/C] NM_001897 CSPG4 EXON Missense_H751R exm1178670 15 75981185 [T/C] NM_001897 CSPG4 EXON Missense_V741M exm1178680 15 75981311 [T/C] NM_001897 CSPG4 EXON Missense_V699M exm1178682 15 75981313 [T/C] NM_001897 CSPG4 EXON Missense_S698N exm1178831 15 76016583 [T/C] NM_175881 ODF3L1 EXON Nonsense_Q15X exm1178834 15 76017452 [T/C] NM_175881 ODF3L1 EXON Missense_P41L exm1178847 15 76018498 [A/G] NM_175881 ODF3L1 EXON Missense_R110H exm1178851 15 76019462 [T/C] NM_175881 ODF3L1 EXON Missense_R136C exm1178855 15 76019493 [A/G] NM_175881 ODF3L1 EXON Missense_R146Q exm1178858 15 76019567 [A/T] NM_175881 ODF3L1 EXON Missense_T171S exm1178867 15 76019673 [A/G] NM_175881 ODF3L1 EXON Missense_R206Q exm1178871 15 76019700 [A/G] NM_175881 ODF3L1 EXON Missense_R215H exm1178876 15 76019751 [T/C] NM_175881 ODF3L1 EXON Missense_T232M exm1178879 15 76019757 [A/G] NM_175881 ODF3L1 EXON Missense_R234Q exm1178881 15 76019768 [A/G] NM_175881 ODF3L1 EXON Missense_G238S exm2264580 15 76126371 [A/C] exm1178899 15 76136135 [A/C] NM_173469 UBE2Q2 EXON Missense_Q43P exm1178910 15 76146800 [A/G] NM_173469,NM_001145335 UBE2Q2,UBE2Q2 EXON Missense_R85H,Missense_R69H exm1178911 15 76146812 [A/C] NM_173469,NM_001145335 UBE2Q2,UBE2Q2 EXON Missense_T89N,Missense_T73N exm-rs1394125 15 76158983 [A/G] NM_173469,NM_001145335 UBE2Q2,UBE2Q2 Silent,Silent exm1178924 15 76170353 [A/G] NM_173469,NM_001145335 UBE2Q2,UBE2Q2 EXON Missense_K242R,Missense_K226R exm1178939 15 76189387 [A/G] NM_173469,NM_001145335 UBE2Q2,UBE2Q2 EXON Missense_I361V,Missense_I345V exm2223866 15 76196368 [G/C] NM_012170,NR_037623,NM_147188 FBXO22,FBXO22,FBXO22 EXON Missense_V22L,Silent,Missense_V22L exm1178959 15 76196878 [T/C] NM_012170,NR_037623,NM_147188 FBXO22,FBXO22,FBXO22 EXON Missense_H63Y,Silent,Missense_H63Y exm1178963 15 76205566 [T/C] NM_012170,NR_037623,NM_147188 FBXO22,FBXO22,FBXO22 EXON Missense_T101I,Silent,Missense_T101I exm1178976 15 76222405 [T/C] NM_012170,NR_037623,NM_147188 FBXO22,FBXO22,FBXO22 EXON Missense_A270V,Silent,Silent exm1178979 15 76225040 [T/C] NR_037623,NM_147188,NR_003136 FBXO22,FBXO22,FBXO22-AS1 EXON Silent,Missense_I270T,Silent exm1178980 15 76225042 [C/G] NR_037623,NM_147188,NR_003136 FBXO22,FBXO22,FBXO22-AS1 EXON Silent,Missense_D271H,Silent exm1178993 15 76225443 [T/A] NR_037623,NM_147188,NR_003136 FBXO22,FBXO22,FBXO22-AS1 EXON Silent,Missense_X404Y,Silent exm1179005 15 76254289 [T/C] NM_138573 NRG4 EXON Missense_R44H exm1179006 15 76254311 [T/C] NM_138573 NRG4 EXON Missense_V37I exm1179009 15 76301577 [A/C] NM_138573 NRG4 EXON Missense_C23F exm1179010 15 76301622 [C/G] NM_138573 NRG4 EXON Missense_P8R exm2267789 15 76402624 [A/G] NM_152335 C15orf27 Silent exm-rs7181548 15 76409861 [A/C] NM_152335 C15orf27 Silent exm1179013 15 76426621 [G/C] NM_152335 C15orf27 EXON Missense_S6C exm1179020 15 76430151 [T/C] NM_152335 C15orf27 EXON Missense_R48W exm1179022 15 76430188 [T/C] NM_152335 C15orf27 EXON Missense_A60V exm1179025 15 76430209 [A/G] NM_152335 C15orf27 EXON Missense_N67S exm1179035 15 76452476 [C/G] NM_152335 C15orf27 EXON Missense_I141M exm1179061 15 76494569 [A/G] NM_152335 C15orf27 EXON Missense_S329G exm1179064 15 76496087 [A/G] NM_152335 C15orf27 EXON Missense_G343S exm1179071 15 76496195 [A/G] NM_152335 C15orf27 EXON Missense_G379S exm1179074 15 76496217 [T/C] NM_152335 C15orf27 EXON Missense_S386L exm1179075 15 76496231 [T/C] NM_152335 C15orf27 EXON Missense_R391C exm1179076 15 76496232 [A/G] NM_152335 C15orf27 EXON Missense_R391H exm1179092 15 76496427 [A/G] NM_152335 C15orf27 EXON Missense_K456R exm1179095 15 76496472 [T/C] NM_152335 C15orf27 EXON Missense_S471L exm1179108 15 76523730 [T/G] NM_001127716,NM_000126 ETFA,ETFA EXON Missense_I227L,Missense_I276L exm1179118 15 76576103 [C/G] NM_001127716,NM_000126 ETFA,ETFA EXON Missense_A194G,Missense_A243G exm1179124 15 76578741 [C/G] NM_001127716,NM_000126 ETFA,ETFA EXON Missense_T129R,Missense_T178R exm1179125 15 76578762 [A/G] NM_001127716,NM_000126 ETFA,ETFA EXON Missense_T122I,Missense_T171I exm1179129 15 76580196 [T/C] NM_001127716,NM_000126 ETFA,ETFA EXON Missense_I99V,Missense_I148V exm1179139 15 76587948 [C/G] NM_001127716,NM_000126 ETFA,ETFA EXON Silent,Missense_G57A exm1179151 15 76629250 [G/C] NM_145805 ISL2 EXON Missense_P9R exm1179158 15 76630244 [A/C] NM_145805 ISL2 EXON Missense_L62M exm1179185 15 76633551 [T/C] NM_145805 ISL2 EXON Missense_A291V exm1179187 15 76633575 [T/C] NM_145805 ISL2 EXON Missense_P299L exm1179188 15 76633599 [A/T] NM_145805 ISL2 EXON Missense_F307Y exm1179199 15 76643618 [C/G] NM_001145923,NM_020843 SCAPER,SCAPER EXON Missense_Q1107H,Missense_Q1353H exm1179203 15 76668514 [T/G] NM_001145923,NM_020843 SCAPER,SCAPER EXON Missense_P1036T,Missense_P1282T exm1179205 15 76668547 [T/C] NM_001145923,NM_020843 SCAPER,SCAPER EXON Missense_I1025V,Missense_I1271V exm1179211 15 76673808 [T/C] NM_001145923,NM_020843 SCAPER,SCAPER EXON Missense_E960K,Missense_E1206K exm1179217 15 76673928 [C/G] NM_001145923,NM_020843 SCAPER,SCAPER EXON Missense_Q920E,Missense_Q1166E exm1179220 15 76673956 [T/C] NM_001145923,NM_020843 SCAPER,SCAPER EXON Synonymous_R910R,Synonymous_R1156R exm1179221 15 76696901 [T/C] NM_001145923,NM_020843 SCAPER,SCAPER EXON Missense_H898R,Missense_H1144R exm1179222 15 76696914 [T/C] NM_001145923,NM_020843 SCAPER,SCAPER EXON Missense_A894T,Missense_A1140T exm1179223 15 76696991 [T/G] NM_001145923,NM_020843 SCAPER,SCAPER EXON Missense_K868T,Missense_K1114T exm2264566 15 76700801 [A/C] NM_001145923,NM_020843 SCAPER,SCAPER Silent,Silent exm1179228 15 76726440 [T/C] NM_001145923,NM_020843 SCAPER,SCAPER EXON Missense_N851S,Missense_N1097S exm1179229 15 76726465 [T/G] NM_001145923,NM_020843 SCAPER,SCAPER EXON Missense_P843T,Missense_P1089T exm1179232 15 76726530 [T/C] NM_001145923,NM_020843 SCAPER,SCAPER EXON Missense_N821S,Missense_N1067S exm1179233 15 76726552 [T/C] NM_001145923,NM_020843 SCAPER,SCAPER EXON Missense_V814I,Missense_V1060I exm1179244 15 76914159 [T/A] NM_001145923,NM_020843 SCAPER,SCAPER EXON Missense_Y640F,Missense_Y886F exm1179282 15 77064249 [T/C] NM_001145923,NM_020843 SCAPER,SCAPER EXON Missense_R115Q,Missense_R361Q exm1179286 15 77067254 [T/C] NM_001145923,NM_020843 SCAPER,SCAPER EXON Missense_E80G,Missense_E326G exm1179289 15 77067392 [A/G] NM_001145923,NM_020843 SCAPER,SCAPER EXON Missense_A34V,Missense_A280V exm1179290 15 77067396 [T/C] NM_001145923,NM_020843 SCAPER,SCAPER EXON Missense_T33A,Missense_T279A exm1179292 15 77087669 [T/C] NM_001145923,NM_020843 SCAPER,SCAPER EXON Silent,Missense_A242T exm1179310 15 77134238 [A/G] NM_001145923,NM_020843 SCAPER,SCAPER EXON Silent,Missense_T77M exm1179311 15 77134244 [A/G] NM_001145923,NM_020843 SCAPER,SCAPER EXON Silent,Missense_S75L exm1179314 15 77154786 [T/C] NM_020843 SCAPER EXON Missense_S32N exm1179317 15 77154862 [A/G] NM_020843 SCAPER EXON Missense_R7C exm1179319 15 77176158 [T/C] NM_020843 SCAPER EXON Missense_M1V exm1179323 15 77224726 [A/C] NM_002902,NM_001271837 RCN2,RCN2 EXON Missense_L57I,Missense_L57I exm-rs2469202 15 77282884 [A/G] exm1179354 15 77310863 [T/C] NM_003978 PSTPIP1 EXON Missense_T68M exm1179359 15 77317648 [T/C] NM_003978 PSTPIP1 EXON Missense_S79F exm1179380 15 77322908 [T/C] NM_003978 PSTPIP1 EXON Missense_R210W exm1179388 15 77323535 [A/C] NM_003978 PSTPIP1 EXON Missense_Q219H exm1179393 15 77324670 [C/G] NM_003978 PSTPIP1 EXON Missense_G258A exm1179396 15 77324693 [A/G] NM_003978 PSTPIP1 EXON Missense_D266N exm1179397 15 77324696 [A/G] NM_003978 PSTPIP1 EXON Missense_S267G exm1179399 15 77324734 [T/C] NM_003978 PSTPIP1 EXON Synonymous_P279P exm1179403 15 77325272 [T/C] NM_003978 PSTPIP1 EXON Missense_P303L exm1179416 15 77328202 [A/G] NM_003978 PSTPIP1 EXON Missense_A349T exm1179424 15 77328269 [T/C] NM_003978 PSTPIP1 EXON Missense_T371I exm1179435 15 77329417 [A/G] NM_003978 PSTPIP1 EXON Missense_D384G exm1179440 15 77329474 [A/G] NM_003978 PSTPIP1 EXON Missense_G403E exm1179441 15 77329479 [T/C] NM_003978 PSTPIP1 EXON Missense_R405C exm2274774 15 77329487 [A/C] NM_003978 PSTPIP1 EXON Missense_F407L exm2272316 15 77335891 [T/C] exm2267790 15 77335902 [A/G] exm1179448 15 77345133 [T/C] NM_005724,NM_198902,NM_001168412 TSPAN3,TSPAN3,TSPAN3 EXON Missense_D191N,Missense_D166N,Missense_D127N exm1179460 15 77348407 [A/G] NM_005724,NM_198902,NM_001168412 TSPAN3,TSPAN3,TSPAN3 EXON Missense_T85M,Missense_T85M,Silent exm1179463 15 77348443 [G/C] NM_005724,NM_198902,NM_001168412 TSPAN3,TSPAN3,TSPAN3 EXON Missense_C73S,Missense_C73S,Silent exm1179468 15 77363263 [T/C] NM_005724,NM_198902,NM_001168412 TSPAN3,TSPAN3,TSPAN3 EXON Missense_V12M,Missense_V12M,Missense_V12M exm1179472 15 77406507 [T/C] NM_024776 PEAK1 EXON Synonymous_Q1744Q exm1179486 15 77406956 [T/C] NM_024776 PEAK1 EXON Missense_T1595A exm1179495 15 77407239 [T/C] NM_024776 PEAK1 EXON Synonymous_L1500L exm1840782 15 77407280 [T/C] NM_024776 PEAK1 EXON Missense_D1487N exm1179500 15 77407381 [T/C] NM_024776 PEAK1 EXON Missense_K1453R exm1179501 15 77407403 [T/C] NM_024776 PEAK1 EXON Missense_E1446K exm1179505 15 77407487 [T/C] NM_024776 PEAK1 EXON Missense_M1418V exm1179507 15 77407516 [T/G] NM_024776 PEAK1 EXON Missense_P1408Q exm1179516 15 77425471 [T/C] NM_024776 PEAK1 EXON Missense_R1318H exm1179517 15 77425500 [A/G] NM_024776 PEAK1 EXON Synonymous_L1308L exm2252310 15 77425710 [T/C] NM_024776 PEAK1 EXON Synonymous_L1238L exm2274775 15 77425756 [T/C] NM_024776 PEAK1 EXON Missense_R1223H exm1179537 15 77425933 [T/C] NM_024776 PEAK1 EXON Missense_N1164S exm2223878 15 77450947 [T/G] NM_024776 PEAK1 EXON Missense_T1077P exm1179550 15 77450964 [T/C] NM_024776 PEAK1 EXON Missense_R1071K exm1179556 15 77471226 [T/G] NM_024776 PEAK1 EXON Missense_M1015L exm1179562 15 77471361 [A/G] NM_024776 PEAK1 EXON Missense_R970C exm2252311 15 77471638 [A/G] NM_024776 PEAK1 EXON Synonymous_S877S exm1179569 15 77471643 [T/C] NM_024776 PEAK1 EXON Missense_T876A exm1179573 15 77471654 [A/G] NM_024776 PEAK1 EXON Missense_P872L exm2252312 15 77471761 [G/C] NM_024776 PEAK1 EXON Missense_D836E exm1179577 15 77471761 [G/C] NM_024776 PEAK1 EXON Missense_D836E exm1179588 15 77471921 [A/G] NM_024776 PEAK1 EXON Missense_T783I exm1179590 15 77471958 [T/C] NM_024776 PEAK1 EXON Missense_V771M exm1179607 15 77472723 [A/G] NM_024776 PEAK1 EXON Missense_P516S exm1840809 15 77472921 [T/C] NM_024776 PEAK1 EXON Missense_I450V exm1179614 15 77472951 [A/G] NM_024776 PEAK1 EXON Missense_S440P exm1179615 15 77472997 [T/C] NM_024776 PEAK1 EXON Synonymous_K424K exm1179616 15 77473010 [T/C] NM_024776 PEAK1 EXON Missense_R420Q exm1840811 15 77473023 [A/C] NM_024776 PEAK1 EXON Missense_V416F exm1179635 15 77473535 [A/G] NM_024776 PEAK1 EXON Missense_M245T exm1179645 15 77473765 [A/G] NM_024776 PEAK1 EXON Synonymous_N168N exm1179652 15 77474081 [A/G] NM_024776 PEAK1 EXON Missense_P63L exm1179662 15 77750775 [T/C] NM_018200 HMG20A EXON Missense_T9I exm1179672 15 77759450 [A/G] NM_018200 HMG20A EXON Missense_R84Q exm1179675 15 77759501 [A/G] NM_018200 HMG20A EXON Missense_N101S exm1179681 15 77764134 [A/G] NM_018200 HMG20A EXON Missense_R198Q exm1179696 15 77770827 [A/C] NM_018200 HMG20A EXON Missense_S294R exm-rs7119 15 77777632 [T/C] NM_018200 HMG20A EXON Silent exm-rs7177055 15 77832762 [A/G] exm1179706 15 77906414 [A/G] NM_032808 LINGO1 EXON Missense_P612L exm1179738 15 77907077 [T/C] NM_032808 LINGO1 EXON Missense_R391Q exm1179739 15 77907078 [A/G] NM_032808 LINGO1 EXON Missense_R391W exm1179751 15 77907420 [T/C] NM_032808 LINGO1 EXON Missense_A277T exm1179754 15 77907558 [A/G] NM_032808 LINGO1 EXON Missense_R231W exm1840852 15 77907884 [T/C] NM_032808 LINGO1 EXON Missense_R122Q exm1179774 15 77907954 [T/C] NM_032808 LINGO1 EXON Missense_E99K exm2272317 15 77926103 [T/C] exm1179785 15 77938853 [A/G] NR_045123 LOC253044 EXON Silent exm-rs9652490 15 77963887 [A/G] exm2267791 15 78017361 [A/G] exm1179820 15 78290630 [T/C] NM_015079,NM_144572 TBC1D2B,TBC1D2B EXON Synonymous_A904A,Missense_A922T exm1179830 15 78295765 [T/C] NM_015079,NM_144572 TBC1D2B,TBC1D2B EXON Missense_Q819R,Missense_Q819R exm1179835 15 78301401 [T/C] NM_015079,NM_144572 TBC1D2B,TBC1D2B EXON Missense_V776I,Missense_V776I exm1179847 15 78305594 [T/C] NM_015079,NM_144572 TBC1D2B,TBC1D2B EXON Missense_K614R,Missense_K614R exm1179858 15 78316533 [A/C] NM_015079,NM_144572 TBC1D2B,TBC1D2B EXON Missense_V479F,Missense_V479F exm1179859 15 78316547 [A/G] NM_015079,NM_144572 TBC1D2B,TBC1D2B EXON Missense_P474L,Missense_P474L exm2223884 15 78316550 [G/C] NM_015079,NM_144572 TBC1D2B,TBC1D2B EXON Missense_S473C,Missense_S473C exm1179861 15 78316559 [A/G] NM_015079,NM_144572 TBC1D2B,TBC1D2B EXON Missense_A470V,Missense_A470V exm1179873 15 78316871 [A/C] NM_015079,NM_144572 TBC1D2B,TBC1D2B EXON Missense_R366L,Missense_R366L exm1179874 15 78317602 [T/C] NM_015079,NM_144572 TBC1D2B,TBC1D2B EXON Missense_K362R,Missense_K362R exm1179880 15 78317696 [T/C] NM_015079,NM_144572 TBC1D2B,TBC1D2B EXON Missense_V331I,Missense_V331I exm1179884 15 78317837 [C/G] NM_015079,NM_144572 TBC1D2B,TBC1D2B EXON Missense_V284L,Missense_V284L exm1179889 15 78322448 [T/C] NM_015079,NM_144572 TBC1D2B,TBC1D2B EXON Missense_T250A,Missense_T250A exm1179890 15 78337273 [A/G] NM_015079,NM_144572 TBC1D2B,TBC1D2B EXON Missense_Y218H,Missense_Y218H exm1179893 15 78337303 [T/C] NM_015079,NM_144572 TBC1D2B,TBC1D2B EXON Missense_A208T,Missense_A208T exm1179897 15 78346377 [A/G] NM_015079,NM_144572 TBC1D2B,TBC1D2B EXON Synonymous_T171T,Synonymous_T171T exm1179904 15 78346465 [A/C] NM_015079,NM_144572 TBC1D2B,TBC1D2B EXON Missense_C142F,Missense_C142F exm1840901 15 78386540 [A/G] NM_001101404 SH2D7 EXON Missense_Y88C exm1179926 15 78390393 [A/G] NM_001101404 SH2D7 EXON Missense_Q130R exm1179927 15 78390414 [T/C] NM_001101404 SH2D7 EXON Missense_M137T exm1179931 15 78390794 [A/C] NM_001101404 SH2D7 EXON Missense_N167K exm1840911 15 78390805 [C/G] NM_001101404 SH2D7 EXON Missense_T171R exm1179936 15 78390835 [A/C] NM_001101404 SH2D7 EXON Missense_A181D exm1179941 15 78390909 [T/C] NM_001101404 SH2D7 EXON Missense_R206W exm1179942 15 78393281 [A/C] NM_001101404 SH2D7 EXON Missense_S229Y exm1179944 15 78393352 [T/C] NM_001101404 SH2D7 EXON Missense_R253W exm1179950 15 78393434 [T/C] NM_001101404 SH2D7 EXON Missense_A280V exm1179959 15 78393644 [T/C] NM_001101404 SH2D7 EXON Missense_I350T exm1179965 15 78393791 [T/G] NM_001101404 SH2D7 EXON Missense_W399L exm1179972 15 78393899 [A/G] NM_001101404 SH2D7 EXON Missense_K435R exm1179980 15 78398100 [T/G] NM_001271888,NM_006383,NM_001271889 CIB2,CIB2,CIB2 EXON Missense_K132Q,Missense_K175Q,Missense_K126Q exm1179984 15 78398150 [A/C] NM_001271888,NM_006383,NM_001271889 CIB2,CIB2,CIB2 EXON Missense_L115W,Missense_L158W,Missense_L109W exm1179986 15 78398175 [T/C] NM_001271888,NM_006383,NM_001271889 CIB2,CIB2,CIB2 EXON Missense_D107N,Missense_D150N,Missense_D101N exm2276394 15 78398222 [A/C] NM_001271888,NM_006383,NM_001271889 CIB2,CIB2,CIB2 EXON Missense_R91L,Missense_R134L,Missense_R85L exm1179995 15 78401612 [T/C] NM_001271888,NM_006383,NM_001271889 CIB2,CIB2,CIB2 EXON Missense_R61Q,Missense_R104Q,Missense_R55Q exm1180001 15 78401685 [T/C] NM_001271888,NM_006383,NM_001271889 CIB2,CIB2,CIB2 EXON Missense_E37K,Missense_E80K,Missense_E31K exm1180004 15 78401696 [A/G] NM_001271888,NM_006383,NM_001271889 CIB2,CIB2,CIB2 EXON Missense_A33V,Missense_A76V,Missense_A27V exm1180008 15 78403551 [T/C] NM_001271888,NM_006383,NM_001271889 CIB2,CIB2,CIB2 EXON Missense_V9I,Missense_V52I,Silent exm1180011 15 78403608 [A/G] NM_001271888,NM_006383,NM_001271889 CIB2,CIB2,CIB2 EXON Silent,Nonsense_R33X,Silent exm1180026 15 78441758 [T/G] NM_005530 IDH3A EXON Missense_A5S exm1180039 15 78452456 [A/G] NM_005530 IDH3A EXON Missense_R66Q exm1180041 15 78452539 [A/G] NM_005530 IDH3A EXON Missense_G94S exm1180046 15 78454050 [A/T] NM_005530 IDH3A EXON Missense_D139E exm1180053 15 78455888 [A/C] NM_005530 IDH3A EXON Missense_E217D exm1180071 15 78458565 [T/C] NM_005530 IDH3A EXON Missense_M313T exm1180074 15 78458616 [T/C] NM_005530 IDH3A EXON Missense_A330V exm1180080 15 78461324 [T/C] NM_005530 IDH3A EXON Missense_R360C exm1180096 15 78466028 [A/G] NM_001199377,NM_015162 ACSBG1,ACSBG1 EXON Missense_R662W,Missense_R666W exm1180102 15 78466127 [T/C] NM_001199377,NM_015162 ACSBG1,ACSBG1 EXON Missense_M629V,Missense_M633V exm1180111 15 78471034 [T/C] NM_001199377,NM_015162 ACSBG1,ACSBG1 EXON Missense_E538K,Missense_E542K exm1180112 15 78471061 [T/C] NM_001199377,NM_015162 ACSBG1,ACSBG1 EXON Missense_E529K,Missense_E533K exm1180128 15 78472122 [A/G] NM_001199377,NM_015162 ACSBG1,ACSBG1 EXON Synonymous_S414S,Synonymous_S418S exm2252314 15 78474449 [A/G] NM_001199377,NM_015162 ACSBG1,ACSBG1 EXON Synonymous_D307D,Synonymous_D311D exm1180169 15 78475072 [A/G] NM_001199377,NM_015162 ACSBG1,ACSBG1 EXON Missense_P236L,Missense_P240L exm1180172 15 78475108 [A/T] NM_001199377,NM_015162 ACSBG1,ACSBG1 EXON Missense_H224L,Missense_H228L exm1180202 15 78487029 [T/C] NM_001199377,NM_015162 ACSBG1,ACSBG1 EXON Missense_R91H,Missense_R91H exm1180203 15 78487042 [T/C] NM_001199377,NM_015162 ACSBG1,ACSBG1 EXON Missense_D87N,Missense_D87N exm1180207 15 78500424 [A/G] NM_001199377,NM_015162 ACSBG1,ACSBG1 EXON Missense_P51L,Missense_P51L exm1180211 15 78526797 [C/G] NM_001199377,NM_015162 ACSBG1,ACSBG1 EXON Missense_P16R,Missense_P16R exm-rs1533665 15 78530940 [A/G] exm1180227 15 78558630 [A/G] NM_018602,NM_001130182,NM_001130183 DNAJA4,DNAJA4,DNAJA4 EXON Silent,Silent,Missense_T16A exm1180231 15 78562867 [T/C] NM_018602,NM_001130182,NM_001130183 DNAJA4,DNAJA4,DNAJA4 EXON Missense_V83A,Missense_V54A,Missense_V27A exm1180247 15 78566619 [A/G] NM_018602,NM_001130182,NM_001130183 DNAJA4,DNAJA4,DNAJA4 EXON Missense_G196R,Missense_G167R,Missense_G140R exm1180248 15 78566626 [G/C] NM_018602,NM_001130182,NM_001130183 DNAJA4,DNAJA4,DNAJA4 EXON Missense_G198A,Missense_G169A,Missense_G142A exm1180251 15 78566682 [A/G] NM_018602,NM_001130182,NM_001130183 DNAJA4,DNAJA4,DNAJA4 EXON Missense_I217V,Missense_I188V,Missense_I161V exm1180259 15 78566740 [A/T] NM_018602,NM_001130182,NM_001130183 DNAJA4,DNAJA4,DNAJA4 EXON Missense_K236M,Missense_K207M,Missense_K180M exm1180266 15 78567957 [A/G] NM_018602,NM_001130182,NM_001130183 DNAJA4,DNAJA4,DNAJA4 EXON Missense_R284Q,Missense_R255Q,Missense_R228Q exm2267792 15 78570918 [A/G] NM_018602,NM_001130182,NM_001130183 DNAJA4,DNAJA4,DNAJA4 Silent,Silent,Silent exm1180275 15 78572422 [T/C] NM_018602,NM_001130182,NM_001130183 DNAJA4,DNAJA4,DNAJA4 EXON Missense_R334C,Missense_R305C,Missense_R278C exm1180281 15 78572717 [A/G] NM_018602,NM_001130182,NM_001130183 DNAJA4,DNAJA4,DNAJA4 EXON Missense_N399S,Missense_N370S,Missense_N343S exm1180284 15 78572759 [A/G] NM_018602,NM_001130182,NM_001130183 DNAJA4,DNAJA4,DNAJA4 EXON Missense_D413G,Missense_D384G,Missense_D357G exm2273530 15 78572845 [A/G] NM_018602,NM_001130182,NM_001130183 DNAJA4,DNAJA4,DNAJA4 EXON Silent,Silent,Silent exm1180296 15 78578420 [T/C] NM_025234 WDR61 EXON Missense_V238I exm1180307 15 78582044 [T/C] NM_025234 WDR61 EXON Missense_G160E exm1180314 15 78585100 [A/C] NM_025234 WDR61 EXON Missense_S59R exm2252315 15 78633419 [C/G] NM_004378 CRABP1 EXON Synonymous_A35A exm1841068 15 78635889 [T/C] NM_004378 CRABP1 EXON Missense_L100F exm1841081 15 78757624 [A/G] NM_004136 IREB2 EXON Missense_M102V exm1180364 15 78758677 [G/C] NM_004136 IREB2 EXON Missense_V159L exm1180367 15 78758728 [A/G] NM_004136 IREB2 EXON Missense_G176R exm1180375 15 78762900 [A/C] NM_004136 IREB2 EXON Missense_E219A exm1180378 15 78764106 [T/G] NM_004136 IREB2 EXON Missense_N241K exm2252317 15 78764167 [A/C] NM_004136 IREB2 EXON Synonymous_R262R exm2223896 15 78770665 [A/G] NM_004136 IREB2 EXON Missense_M408V exm1180404 15 78770683 [T/G] NM_004136 IREB2 EXON Missense_A414S exm2272267 15 78779384 [T/C] NM_004136 IREB2 Silent exm1180420 15 78780104 [T/C] NM_004136 IREB2 EXON Missense_I580T exm1180436 15 78783019 [A/G] NM_004136 IREB2 EXON Missense_G747E exm1180441 15 78786319 [T/C] NM_004136 IREB2 EXON Missense_T798I exm1841113 15 78786397 [T/C] NM_004136 IREB2 EXON Missense_T824M exm-rs13180 15 78789488 [T/C] NM_004136 IREB2 EXON Synonymous_A872A exm1180459 15 78789534 [A/G] NM_004136 IREB2 EXON Missense_I888V exm1180483 15 78805635 [A/G] NM_001013619,NM_001083612 AGPHD1,AGPHD1 EXON Missense_T69A,Missense_T69A exm-rs8034191 15 78806023 [T/C] NM_001013619,NM_001083612 AGPHD1,AGPHD1 Silent,Silent exm1180490 15 78807407 [A/T] NM_001013619,NM_001083612 AGPHD1,AGPHD1 EXON Nonsense_Y145X,Nonsense_Y145X exm1180494 15 78819827 [T/C] NM_001013619,NM_001083612 AGPHD1,AGPHD1 EXON Nonsense_R195X,Nonsense_R195X exm1180496 15 78819834 [A/G] NM_001013619,NM_001083612 AGPHD1,AGPHD1 EXON Missense_R197Q,Missense_R197Q exm1180497 15 78819849 [A/G] NM_001013619,NM_001083612 AGPHD1,AGPHD1 EXON Missense_H202R,Missense_H202R exm1180503 15 78825575 [A/G] NM_001013619,NM_001083612 AGPHD1,AGPHD1 EXON Missense_D229N,Silent exm1180506 15 78825723 [A/G] NM_001013619,NM_001083612 AGPHD1,AGPHD1 EXON Missense_K278R,Silent exm1180507 15 78825728 [T/C] NM_001013619,NM_001083612 AGPHD1,AGPHD1 EXON Missense_P280S,Silent exm2276395 15 78825825 [A/G] NM_001013619,NM_001083612 AGPHD1,AGPHD1 EXON Missense_R312H,Silent exm1180512 15 78825911 [A/G] NM_001013619,NM_001083612 AGPHD1,AGPHD1 EXON Missense_G341R,Silent exm1180514 15 78825917 [A/G] NM_001013619,NM_001083612 AGPHD1,AGPHD1 EXON Missense_K343E,Silent exm1180531 15 78837261 [T/C] NM_002789,NM_001102667,NM_001102668 PSMA4,PSMA4,PSMA4 EXON Missense_A113V,Missense_A113V,Missense_A42V exm1180541 15 78841207 [T/G] NM_002789,NM_001102667,NM_001102668 PSMA4,PSMA4,PSMA4 EXON Missense_L236W,Missense_L236W,Missense_L165W exm1180550 15 78873272 [T/G] NM_000745 CHRNA5 EXON Missense_F76V exm1180560 15 78880752 [A/G] NM_000745 CHRNA5 EXON Missense_V134I exm1180564 15 78882233 [A/G] NM_000745 CHRNA5 EXON Missense_K167R exm1841160 15 78882331 [A/G] NM_000745 CHRNA5 EXON Missense_I200V exm1180569 15 78882446 [T/C] NM_000745 CHRNA5 EXON Missense_P238L exm1180584 15 78882682 [C/G] NM_000745 CHRNA5 EXON Missense_L317V exm1180585 15 78882694 [A/G] NM_000745 CHRNA5 EXON Missense_M321V exm1180586 15 78882726 [T/C] NM_000745 CHRNA5 EXON Synonymous_T331T exm2252318 15 78882726 [T/C] NM_000745 CHRNA5 EXON Synonymous_T331T exm1180592 15 78882797 [T/C] NM_000745 CHRNA5 EXON Missense_I355T exm1180594 15 78882821 [A/T] NM_000745 CHRNA5 EXON Missense_L363Q exm1180596 15 78882920 [T/C] NM_000745 CHRNA5 EXON Missense_A396V exm1180599 15 78882925 [A/G] NM_000745 CHRNA5 EXON Missense_D398N exm1180600 15 78882934 [T/C] NM_000745 CHRNA5 EXON Missense_R401C exm1180607 15 78885574 [T/A] NM_000745,NR_046313,NM_001166694 CHRNA5,CHRNA3,CHRNA3 EXON Missense_H462Q,Silent,Silent exm1841169 15 78888969 [T/G] NR_046313,NM_001166694,NM_000743 CHRNA3,CHRNA3,CHRNA3 EXON Silent,Silent,Missense_L499M exm1180621 15 78893741 [A/C] NR_046313,NM_001166694,NM_000743 CHRNA3,CHRNA3,CHRNA3 EXON Silent,Missense_F415V,Missense_F415V exm1180632 15 78893864 [T/C] NR_046313,NM_001166694,NM_000743 CHRNA3,CHRNA3,CHRNA3 EXON Silent,Missense_G374S,Missense_G374S exm1180633 15 78893872 [A/G] NR_046313,NM_001166694,NM_000743 CHRNA3,CHRNA3,CHRNA3 EXON Silent,Missense_P371L,Missense_P371L exm1180656 15 78894335 [A/G] NR_046313,NM_001166694,NM_000743 CHRNA3,CHRNA3,CHRNA3 EXON Silent,Missense_H217Y,Missense_H217Y exm-rs938682 15 78896547 [A/G] NR_046313,NM_001166694,NM_000743 CHRNA3,CHRNA3,CHRNA3 Silent,Silent,Silent exm-rs8042374 15 78908032 [A/G] NR_046313,NM_001166694,NM_000743 CHRNA3,CHRNA3,CHRNA3 Silent,Silent,Silent exm1180678 15 78909414 [T/C] NR_046313,NM_001166694,NM_000743 CHRNA3,CHRNA3,CHRNA3 EXON Silent,Missense_R110H,Missense_R110H exm1180688 15 78911230 [T/C] NR_046313,NM_001166694,NM_000743 CHRNA3,CHRNA3,CHRNA3 EXON Silent,Missense_R37H,Missense_R37H exm1180709 15 78917573 [T/C] NM_000750,NM_001256567 CHRNB4,CHRNB4 EXON Missense_M467V,Synonymous_S140S exm1180711 15 78921323 [T/C] NM_000750,NM_001256567 CHRNB4,CHRNB4 EXON Missense_D442N,Silent exm1180714 15 78921343 [A/G] NM_000750,NM_001256567 CHRNB4,CHRNB4 EXON Missense_A435V,Silent exm1180715 15 78921398 [A/G] NM_000750,NM_001256567 CHRNB4,CHRNB4 EXON Missense_S417P,Silent exm1841204 15 78921449 [A/G] NM_000750,NM_001256567 CHRNB4,CHRNB4 EXON Missense_P400S,Silent exm1180721 15 78921523 [A/G] NM_000750,NM_001256567 CHRNB4,CHRNB4 EXON Missense_T375I,Silent exm1180738 15 78921716 [T/C] NM_000750,NM_001256567 CHRNB4,CHRNB4 EXON Missense_V311I,Silent exm1180766 15 78922229 [T/C] NM_000750,NM_001256567 CHRNB4,CHRNB4 EXON Missense_S140G,Silent exm1180768 15 78922240 [T/C] NM_000750,NM_001256567 CHRNB4,CHRNB4 EXON Missense_R136Q,Silent exm1180769 15 78922241 [A/G] NM_000750,NM_001256567 CHRNB4,CHRNB4 EXON Missense_R136W,Silent exm1180773 15 78922287 [A/G] NM_000750,NM_001256567 CHRNB4,CHRNB4 EXON Synonymous_N120N,Silent exm1180778 15 78923505 [A/G] NM_000750,NM_001256567 CHRNB4,CHRNB4 EXON Missense_T91I,Missense_T91I exm-rs950776 15 78926018 [T/C] NM_000750,NM_001256567 CHRNB4,CHRNB4 Silent,Silent exm2272318 15 78927589 [T/G] NM_000750,NM_001256567 CHRNB4,CHRNB4 Silent,Silent exm1180784 15 78927863 [T/C] NM_000750,NM_001256567 CHRNB4,CHRNB4 EXON Missense_N41S,Missense_N41S exm1180828 15 79054889 [T/C] NM_014272 ADAMTS7 EXON Missense_G1587S exm1180903 15 79058454 [A/C] NM_014272 ADAMTS7 EXON Missense_A1267S exm1180908 15 79058528 [A/G] NM_014272 ADAMTS7 EXON Missense_P1242L exm1180921 15 79058687 [T/G] NM_014272 ADAMTS7 EXON Missense_T1189N exm2252320 15 79059376 [T/C] NM_014272 ADAMTS7 EXON Synonymous_G959G exm1180994 15 79059764 [T/C] NM_014272 ADAMTS7 EXON Missense_H939R exm1181005 15 79060568 [T/C] NM_014272 ADAMTS7 EXON Missense_R851Q exm1181053 15 79066967 [A/G] NM_014272 ADAMTS7 EXON Synonymous_D625D exm1181082 15 79068675 [A/G] NM_014272 ADAMTS7 EXON Missense_W521R exm-rs1994016 15 79080234 [T/C] NM_014272 ADAMTS7 Silent exm1181124 15 79082154 [T/C] NM_014272 ADAMTS7 EXON Missense_R352Q exm1181135 15 79088969 [A/G] NM_014272 ADAMTS7 EXON Missense_P261L exm1181144 15 79089056 [T/C] NM_014272 ADAMTS7 EXON Missense_R232H exm1181146 15 79089074 [T/C] NM_014272 ADAMTS7 EXON Missense_R226Q exm1181148 15 79089081 [C/G] NM_014272 ADAMTS7 EXON Missense_Q224E exm1181151 15 79089098 [T/C] NM_014272 ADAMTS7 EXON Missense_R218H exm1181152 15 79089111 [A/G] NM_014272 ADAMTS7 EXON Missense_S214P exm1181160 15 79090355 [T/C] NM_014272 ADAMTS7 EXON Missense_R186H exm1181162 15 79090392 [A/G] NM_014272 ADAMTS7 EXON Missense_R174W exm1181191 15 79092868 [T/G] NM_014272 ADAMTS7 EXON Missense_A41E exm1181192 15 79092874 [T/C] NM_014272 ADAMTS7 EXON Missense_G39D exm-rs4380028 15 79111093 [T/C] exm-rs7173743 15 79141784 [T/C] exm1181202 15 79177322 [T/C] NM_206839,NM_001265603,NM_006791,NM_001265605,NM_001265604 MORF4L1,MORF4L1,MORF4L1,MORF4L1,MORF4L1 EXON Missense_P57S,Silent,Silent,Silent,Silent exm1181203 15 79177328 [T/C] NM_206839,NM_001265603,NM_006791,NM_001265605,NM_001265604 MORF4L1,MORF4L1,MORF4L1,MORF4L1,MORF4L1 EXON Missense_R59C,Silent,Silent,Silent,Silent exm1181205 15 79177383 [G/C] NM_206839,NM_001265603,NM_006791,NM_001265605,NM_001265604 MORF4L1,MORF4L1,MORF4L1,MORF4L1,MORF4L1 EXON Missense_P77R,Silent,Silent,Silent,Silent exm1181225 15 79184570 [A/G] NM_206839,NM_001265603,NM_006791,NM_001265605,NM_001265604 MORF4L1,MORF4L1,MORF4L1,MORF4L1,MORF4L1 EXON Missense_N191S,Missense_N64S,Missense_N152S,Missense_N64S,Missense_N64S exm1181231 15 79185959 [A/G] NM_206839,NM_001265603,NM_006791,NM_001265605,NM_001265604 MORF4L1,MORF4L1,MORF4L1,MORF4L1,MORF4L1 EXON Missense_T246A,Missense_T119A,Missense_T207A,Missense_T119A,Missense_T119A exm1181248 15 79214498 [T/C] NM_004390 CTSH EXON Missense_A328T exm1181251 15 79214531 [A/G] NM_004390 CTSH EXON Missense_R317C exm1181265 15 79217691 [A/G] NM_004390 CTSH EXON Missense_T264I exm1181281 15 79221815 [A/G] NM_004390 CTSH EXON Missense_F190S exm1181285 15 79223833 [T/C] NM_004390 CTSH EXON Missense_V170M exm1181292 15 79224727 [T/C] NM_004390 CTSH EXON Missense_K160R exm1181294 15 79224743 [T/C] NM_004390 CTSH EXON Missense_A155T exm1841405 15 79229719 [A/G] NM_004390 CTSH EXON Missense_T57M exm-rs3825932 15 79235446 [T/C] NM_004390 CTSH Silent exm1181325 15 79237247 [G/C] NM_004390 CTSH EXON Missense_C26S exm1181327 15 79237257 [T/C] NM_004390 CTSH EXON Missense_A23T exm1181336 15 79254524 [T/C] NM_001145648,NM_153815,NM_002891 RASGRF1,RASGRF1,RASGRF1 EXON Missense_E1246K,Missense_E478K,Missense_E1262K exm2252321 15 79254525 [A/G] NM_001145648,NM_153815,NM_002891 RASGRF1,RASGRF1,RASGRF1 EXON Synonymous_Y1245Y,Synonymous_Y477Y,Synonymous_Y1261Y exm-rs3743200 15 79274046 [T/C] NM_001145648,NM_153815,NM_002891 RASGRF1,RASGRF1,RASGRF1 Silent,Silent,Silent exm1181355 15 79277486 [T/C] NM_001145648,NM_153815,NM_002891 RASGRF1,RASGRF1,RASGRF1 EXON Missense_A1093T,Missense_A325T,Missense_A1109T exm1181372 15 79284127 [A/C] NM_001145648,NM_153815,NM_002891 RASGRF1,RASGRF1,RASGRF1 EXON Missense_V1013L,Missense_V245L,Missense_V1029L exm1181379 15 79288104 [A/G] NM_001145648,NM_153815,NM_002891 RASGRF1,RASGRF1,RASGRF1 EXON Missense_T1002M,Missense_T234M,Missense_T1018M exm1181391 15 79290511 [T/C] NM_001145648,NM_153815,NM_002891 RASGRF1,RASGRF1,RASGRF1 EXON Missense_G965S,Missense_G197S,Missense_G981S exm1181396 15 79292136 [T/C] NM_001145648,NM_153815,NM_002891 RASGRF1,RASGRF1,RASGRF1 EXON Missense_E899K,Missense_E131K,Missense_E915K exm1181400 15 79292172 [T/C] NM_001145648,NM_153815,NM_002891 RASGRF1,RASGRF1,RASGRF1 EXON Missense_A887T,Missense_A119T,Missense_A903T exm1181404 15 79292223 [T/C] NM_001145648,NM_153815,NM_002891 RASGRF1,RASGRF1,RASGRF1 EXON Missense_V870I,Missense_V102I,Missense_V886I exm1181407 15 79296171 [T/C] NM_001145648,NM_153815,NM_002891 RASGRF1,RASGRF1,RASGRF1 EXON Missense_E808K,Missense_E40K,Missense_E824K exm1181410 15 79296188 [A/G] NM_001145648,NM_153815,NM_002891 RASGRF1,RASGRF1,RASGRF1 EXON Missense_T802M,Missense_T34M,Missense_T818M exm1181411 15 79296192 [T/C] NM_001145648,NM_153815,NM_002891 RASGRF1,RASGRF1,RASGRF1 EXON Missense_D801N,Missense_D33N,Missense_D817N exm1181413 15 79296215 [A/G] NM_001145648,NM_153815,NM_002891 RASGRF1,RASGRF1,RASGRF1 EXON Missense_T793I,Missense_T25I,Missense_T809I exm1181419 15 79296386 [T/C] NM_001145648,NM_153815,NM_002891 RASGRF1,RASGRF1,RASGRF1 EXON Missense_S736N,Silent,Missense_S752N exm1181422 15 79296405 [T/C] NM_001145648,NM_153815,NM_002891 RASGRF1,RASGRF1,RASGRF1 EXON Missense_T730A,Silent,Missense_T746A exm1181443 15 79304830 [T/C] NM_001145648,NM_002891 RASGRF1,RASGRF1 Silent,Silent exm-rs734446 15 79328182 [T/C] NM_001145648,NM_002891 RASGRF1,RASGRF1 Silent,Silent exm1181517 15 79356790 [T/C] NM_001145648,NM_002891 RASGRF1,RASGRF1 EXON Missense_E119K,Missense_E119K exm2267793 15 79408932 [A/G] exm-rs939658 15 79451869 [A/G] exm1181554 15 79586669 [A/C] NM_001146341 ANKRD34C EXON Missense_T348N exm1181555 15 79586737 [T/C] NM_001146341 ANKRD34C EXON Missense_S371P exm1181556 15 79586782 [C/G] NM_001146341 ANKRD34C EXON Missense_P386A exm1181574 15 79603760 [A/G] NM_007364 TMED3 Silent exm1181580 15 79606186 [A/G] NM_007364 TMED3 EXON Missense_D86N exm1181583 15 79606202 [A/G] NM_007364 TMED3 EXON Missense_R91Q exm2274777 15 79614382 [T/G] NM_007364 TMED3 EXON Missense_H160Q exm1181601 15 79614527 [T/C] NM_007364 TMED3 EXON Nonsense_R209X exm1181603 15 79614538 [A/C] NM_007364 TMED3 EXON Missense_S212R exm2267794 15 79680749 [A/G] exm1181610 15 79748576 [C/G] NM_015206 KIAA1024 EXON Missense_D29E exm1181612 15 79748599 [A/G] NM_015206 KIAA1024 EXON Missense_R37Q exm1181636 15 79748964 [G/C] NM_015206 KIAA1024 EXON Missense_R159G exm1181642 15 79749051 [T/C] NM_015206 KIAA1024 EXON Missense_R188C exm1181645 15 79749091 [A/G] NM_015206 KIAA1024 EXON Missense_Y201C exm1181646 15 79749114 [T/C] NM_015206 KIAA1024 EXON Missense_C209R exm1841506 15 79749127 [A/G] NM_015206 KIAA1024 EXON Missense_R213K exm1181649 15 79749151 [A/G] NM_015206 KIAA1024 EXON Missense_E221G exm1181656 15 79749261 [A/C] NM_015206 KIAA1024 EXON Missense_N258H exm2223912 15 79749358 [A/G] NM_015206 KIAA1024 EXON Missense_S290N exm1181664 15 79749415 [A/C] NM_015206 KIAA1024 EXON Missense_N309T exm1181666 15 79749447 [T/G] NM_015206 KIAA1024 EXON Missense_V320F exm1181673 15 79749539 [A/T] NM_015206 KIAA1024 EXON Missense_E350D exm1181681 15 79749702 [T/C] NM_015206 KIAA1024 EXON Missense_F405L exm1181684 15 79749721 [A/G] NM_015206 KIAA1024 EXON Missense_R411H exm1181690 15 79749909 [A/G] NM_015206 KIAA1024 EXON Missense_V474M exm2274778 15 79749993 [T/C] NM_015206 KIAA1024 EXON Missense_H502Y exm1181700 15 79750156 [A/G] NM_015206 KIAA1024 EXON Missense_C556Y exm1181705 15 79750230 [T/C] NM_015206 KIAA1024 EXON Missense_R581W exm1181707 15 79750245 [T/C] NM_015206 KIAA1024 EXON Missense_H586Y exm1181711 15 79750302 [A/G] NM_015206 KIAA1024 EXON Missense_E605K exm1181718 15 79750419 [T/A] NM_015206 KIAA1024 EXON Missense_I644L exm1181719 15 79750473 [T/C] NM_015206 KIAA1024 EXON Missense_R662W exm1181724 15 79750561 [G/C] NM_015206 KIAA1024 EXON Missense_S691T exm1181727 15 79750609 [A/C] NM_015206 KIAA1024 EXON Missense_P707Q exm1181729 15 79750619 [G/C] NM_015206 KIAA1024 EXON Missense_R710S exm1181732 15 79750689 [T/C] NM_015206 KIAA1024 EXON Missense_R734C exm1181733 15 79750690 [A/G] NM_015206 KIAA1024 EXON Missense_R734H exm1181751 15 79755574 [A/G] NM_015206 KIAA1024 EXON Missense_E822K exm1181754 15 79755593 [T/C] NM_015206 KIAA1024 EXON Missense_P828L exm1181755 15 79755598 [T/C] NM_015206 KIAA1024 EXON Missense_W830R exm1181757 15 79755604 [A/G] NM_015206 KIAA1024 EXON Missense_I832V exm1181762 15 79760530 [T/C] NM_015206 KIAA1024 EXON Missense_T852M exm1181778 15 80137560 [T/C] NM_001199760,NR_037654,NM_001199758,NM_006441 ST20-MTHFS,MTHFS,MTHFS,MTHFS EXON Missense_T178A,Silent,Missense_T145A,Missense_T202A exm1181781 15 80137572 [T/C] NM_001199760,NR_037654,NM_001199758,NM_006441 ST20-MTHFS,MTHFS,MTHFS,MTHFS EXON Missense_E174K,Silent,Missense_E141K,Missense_E198K exm1181785 15 80137649 [A/G] NM_001199760,NR_037654,NM_001199758,NM_006441 ST20-MTHFS,MTHFS,MTHFS,MTHFS EXON Missense_A148V,Silent,Missense_A115V,Missense_A172V exm2272268 15 80164053 [T/C] NM_001199760,NR_037654,NM_001199758,NM_006441 ST20-MTHFS,MTHFS,MTHFS,MTHFS Silent,Silent,Silent,Silent exm1181793 15 80181436 [T/C] NM_001199760,NR_037654,NM_001199758,NM_006441 ST20-MTHFS,MTHFS,MTHFS,MTHFS EXON Synonymous_T102T,Silent,Synonymous_T69T,Synonymous_T126T exm1181795 15 80181459 [G/C] NM_001199760,NR_037654,NM_001199758,NM_006441 ST20-MTHFS,MTHFS,MTHFS,MTHFS EXON Missense_V95L,Silent,Missense_V62L,Missense_V119L exm1181796 15 80181494 [A/G] NM_001199760,NR_037654,NM_001199758,NM_006441 ST20-MTHFS,MTHFS,MTHFS,MTHFS EXON Missense_T83I,Silent,Missense_T50I,Missense_T107I exm1181798 15 80181521 [A/G] NM_001199760,NR_037654,NM_001199758,NM_006441 ST20-MTHFS,MTHFS,MTHFS,MTHFS EXON Missense_P74L,Silent,Missense_P41L,Missense_P98L exm1181801 15 80181593 [T/C] NM_001199760,NR_037654,NM_001199758,NM_006441 ST20-MTHFS,MTHFS,MTHFS,MTHFS EXON Missense_R50Q,Silent,Missense_R17Q,Missense_R74Q exm1181805 15 80189230 [A/C] NM_001199760,NR_037654,NM_001199758,NM_006441 ST20-MTHFS,MTHFS,MTHFS,MTHFS EXON Silent,Silent,Silent,Missense_R34L exm1181809 15 80189295 [T/G] NM_001199760,NR_037654,NM_001199758,NM_006441 ST20-MTHFS,MTHFS,MTHFS,MTHFS EXON Silent,Silent,Silent,Missense_S12R exm1181810 15 80189317 [A/G] NM_001199760,NR_037654,NM_001199758,NM_006441 ST20-MTHFS,MTHFS,MTHFS,MTHFS EXON Silent,Silent,Silent,Missense_A5V exm1181815 15 80191280 [T/A] NM_001199760,NR_037653,NR_037652,NM_001199757,NM_001100879,NM_001100880 ST20-MTHFS,ST20,ST20,ST20,ST20,ST20 EXON Silent,Silent,Silent,Missense_Y78F,Missense_Y78F,Missense_Y78F exm1181817 15 80191338 [A/G] NM_001199760,NR_037653,NR_037652,NM_001199757,NM_001100879,NM_001100880 ST20-MTHFS,ST20,ST20,ST20,ST20,ST20 EXON Silent,Silent,Silent,Missense_C59R,Missense_C59R,Missense_C59R exm1181818 15 80191343 [A/G] NM_001199760,NR_037653,NR_037652,NM_001199757,NM_001100879,NM_001100880 ST20-MTHFS,ST20,ST20,ST20,ST20,ST20 EXON Silent,Silent,Silent,Missense_P57L,Missense_P57L,Missense_P57L exm1181851 15 80263107 [A/C] NM_004049,NM_001114735 BCL2A1,BCL2A1 EXON Missense_S119A,Missense_S119A exm1181852 15 80263111 [A/C] NM_004049,NM_001114735 BCL2A1,BCL2A1 EXON Missense_E117D,Missense_E117D exm1181854 15 80263133 [A/G] NM_004049,NM_001114735 BCL2A1,BCL2A1 EXON Missense_P110L,Missense_P110L exm1181857 15 80263167 [G/C] NM_004049,NM_001114735 BCL2A1,BCL2A1 EXON Missense_L99V,Missense_L99V exm1181858 15 80263217 [T/C] NM_004049,NM_001114735 BCL2A1,BCL2A1 EXON Missense_G82D,Missense_G82D exm1181864 15 80263345 [A/C] NM_004049,NM_001114735 BCL2A1,BCL2A1 EXON Missense_N39K,Missense_N39K exm1181869 15 80263406 [T/C] NM_004049,NM_001114735 BCL2A1,BCL2A1 EXON Missense_C19Y,Missense_C19Y exm2267845 15 80404656 [A/G] NM_001242911,NM_001242912,NM_019006,NM_001242917,NM_001242918,NM_001242913,NM_001242914,NM_001242916,NM_001242915,NM_001242919 ZFAND6,ZFAND6,ZFAND6,ZFAND6,ZFAND6,ZFAND6,ZFAND6,ZFAND6,ZFAND6,ZFAND6 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm1181884 15 80415082 [T/G] NM_001242911,NM_001242912,NM_019006,NM_001242917,NM_001242918,NM_001242913,NM_001242914,NM_001242916,NM_001242915,NM_001242919 ZFAND6,ZFAND6,ZFAND6,ZFAND6,ZFAND6,ZFAND6,ZFAND6,ZFAND6,ZFAND6,ZFAND6 EXON Missense_S102A,Missense_S102A,Missense_S102A,Missense_S90A,Missense_S102A,Missense_S102A,Missense_S102A,Missense_S102A,Missense_S102A,Silent exm-rs11634397 15 80432222 [A/G] exm1181910 15 80450459 [A/G] NM_000137 FAH EXON Missense_K47E exm1841563 15 80450501 [T/G] NM_000137 FAH EXON Missense_V61F exm1841568 15 80454614 [T/C] NM_000137 FAH EXON Missense_R131W exm1181928 15 80454632 [A/G] NM_000137 FAH EXON Missense_V137I exm1181929 15 80454635 [A/G] NM_000137 FAH EXON Missense_G138R exm2252325 15 80454664 [A/G] NM_000137 FAH EXON Synonymous_A147A exm1181933 15 80460400 [A/C] NM_000137 FAH EXON Missense_H154Q exm1181947 15 80460617 [A/G] NM_000137 FAH EXON Missense_V189I exm1181953 15 80465355 [A/G] NM_000137 FAH Silent exm1841585 15 80465435 [A/G] NM_000137 FAH EXON Nonsense_W262X exm1181977 15 80472514 [A/G] NM_000137 FAH EXON Missense_G337S exm1181978 15 80472526 [T/C] NM_000137 FAH EXON Missense_R341W exm1181994 15 80478496 [A/G] NM_000137 FAH EXON Missense_R402H exm2223916 15 80743311 [A/C] NM_014862 ARNT2 EXON Missense_A41D exm1182031 15 80806265 [C/G] NM_014862 ARNT2 EXON Missense_P247A exm1182038 15 80843578 [A/G] NM_014862 ARNT2 EXON Missense_G306S exm1182047 15 80845005 [A/G] NM_014862 ARNT2 EXON Missense_D327N exm1182049 15 80845026 [T/C] NM_014862 ARNT2 EXON Missense_P334S exm1182063 15 80855486 [T/C] NM_014862 ARNT2 EXON Missense_R408W exm2274779 15 80855542 [A/T] NM_014862 ARNT2 EXON Missense_D426E exm1182070 15 80866521 [T/C] NM_014862 ARNT2 EXON Missense_V450A exm1182076 15 80867334 [A/G] NM_014862 ARNT2 EXON Missense_V466I exm2272319 15 80910857 [T/C] exm2264567 15 81077370 [A/C] NM_018689 KIAA1199 Silent exm1182146 15 81171065 [T/C] NM_018689 KIAA1199 EXON Missense_A33V exm1182159 15 81172083 [A/G] NM_018689 KIAA1199 EXON Missense_E90K exm1182177 15 81173477 [A/G] NM_018689 KIAA1199 EXON Missense_R206Q exm1182178 15 81176530 [A/G] NM_018689 KIAA1199 EXON Missense_R211K exm1182187 15 81180069 [T/C] NM_018689 KIAA1199 EXON Missense_P278S exm1182189 15 81181084 [A/G] NM_018689 KIAA1199 EXON Missense_Q304R exm1182193 15 81181814 [A/G] NM_018689 KIAA1199 EXON Missense_V323M exm1182204 15 81187416 [T/G] NM_018689 KIAA1199 EXON Missense_G391V exm1182207 15 81187443 [A/G] NM_018689 KIAA1199 EXON Missense_R400Q exm1182209 15 81188221 [C/G] NM_018689 KIAA1199 EXON Missense_L411V exm1182216 15 81188400 [A/G] NM_018689 KIAA1199 EXON Synonymous_A470A exm1182228 15 81201537 [A/G] NM_018689 KIAA1199 EXON Missense_G563S exm1182257 15 81217020 [A/G] NM_018689 KIAA1199 EXON Missense_R754Q exm1182261 15 81217991 [T/C] NM_018689 KIAA1199 EXON Missense_P772L exm1182263 15 81218024 [A/G] NM_018689 KIAA1199 EXON Missense_H783R exm1182272 15 81221512 [A/G] NM_018689 KIAA1199 EXON Missense_G870D exm1182285 15 81224313 [A/G] NM_018689 KIAA1199 EXON Missense_R909H exm1182289 15 81224380 [A/G] NM_018689 KIAA1199 EXON Synonymous_P931P exm1182306 15 81229142 [T/C] NM_018689 KIAA1199 EXON Missense_V1046A exm1182311 15 81229192 [A/G] NM_018689 KIAA1199 EXON Missense_A1063T exm1182317 15 81230233 [T/C] NM_018689 KIAA1199 EXON Missense_T1107M exm1182321 15 81230310 [A/G] NM_018689 KIAA1199 EXON Missense_E1133K exm1182324 15 81234287 [C/G] NM_018689 KIAA1199 EXON Missense_P1169A exm1182327 15 81234321 [T/C] NM_018689 KIAA1199 EXON Missense_T1180I exm1182332 15 81234604 [T/C] NM_018689 KIAA1199 EXON Missense_H1209Y exm1182336 15 81235311 [T/C] NM_018689 KIAA1199 EXON Missense_S1242L exm1182340 15 81235343 [A/G] NM_018689 KIAA1199 EXON Missense_G1253R exm1182341 15 81235356 [A/G] NM_018689 KIAA1199 EXON Missense_R1257H exm1182373 15 81271798 [T/C] NM_015154 MESDC2 EXON Missense_R156H exm1182374 15 81271801 [T/C] NM_015154 MESDC2 EXON Missense_D155G exm1182394 15 81282122 [A/G] NM_015154 MESDC2 EXON Missense_S4F exm1182399 15 81294686 [G/C] NM_022566 MESDC1 EXON Missense_A25G exm1841734 15 81295546 [T/C] NM_022566 MESDC1 EXON Missense_H312Y exm-rs1317060 15 81406415 [T/C] exm1182437 15 81426682 [A/C] NM_173528 C15orf26 EXON Missense_N4K exm1182452 15 81429026 [T/C] NM_173528 C15orf26 EXON Missense_P110L exm1182458 15 81430452 [A/G] NM_173528 C15orf26 EXON Missense_I151M exm1182465 15 81436133 [A/G] NM_173528 C15orf26 EXON Missense_R203H exm1182474 15 81440239 [A/G] NM_173528 C15orf26 EXON Missense_R226Q exm1182478 15 81440818 [T/C] NM_173528 C15orf26 EXON Missense_P284S exm1182488 15 81517772 [A/G] NM_001172128,NM_172217 IL16,IL16 EXON Missense_R11K,Missense_R11K exm1182493 15 81517972 [A/G] NM_001172128,NM_172217 IL16,IL16 EXON Missense_A78T,Missense_A78T exm1841754 15 81518012 [A/G] NM_001172128,NM_172217 IL16,IL16 EXON Missense_N91S,Missense_N91S exm-rs7172689 15 81533695 [T/C] NM_001172128,NM_172217 IL16,IL16 Silent,Silent exm1182501 15 81558045 [A/G] NM_001172128,NM_172217 IL16,IL16 EXON Missense_K156R,Missense_K156R exm1182502 15 81558093 [A/G] NM_001172128,NM_172217 IL16,IL16 EXON Missense_N172S,Missense_N172S exm1182506 15 81561897 [T/C] NM_001172128,NM_172217 IL16,IL16 EXON Missense_R195W,Missense_R195W exm1182511 15 81565432 [T/G] NM_001172128,NM_172217 IL16,IL16 EXON Missense_G226V,Missense_G226V exm1182530 15 81571990 [A/G] NM_001172128,NM_172217 IL16,IL16 EXON Missense_R319H,Missense_R319H exm2276397 15 81572037 [A/G] NM_001172128,NM_172217 IL16,IL16 EXON Missense_A335T,Missense_A335T exm1182533 15 81572053 [T/C] NM_001172128,NM_172217 IL16,IL16 EXON Missense_S340L,Missense_S340L exm1182536 15 81572094 [A/G] NM_001172128,NM_172217 IL16,IL16 EXON Missense_V354M,Missense_V354M exm1182545 15 81575055 [T/C] NM_001172128,NM_172217 IL16,IL16 EXON Missense_T386M,Missense_T386M exm1182556 15 81578139 [T/C] NM_001172128,NM_172217 IL16,IL16 EXON Missense_P434S,Missense_P434S exm1182567 15 81585002 [A/G] NM_001172128,NM_172217 IL16,IL16 EXON Missense_R509H,Missense_R509H exm1182583 15 81585347 [T/C] NM_001172128,NM_172217 IL16,IL16 EXON Missense_S624F,Missense_S624F exm1182600 15 81591816 [A/G] NM_001172128,NM_172217,NM_004513 IL16,IL16,IL16 EXON Missense_I717V,Missense_I717V,Missense_I16V exm1182608 15 81591991 [A/G] NM_001172128,NM_172217,NM_004513 IL16,IL16,IL16 EXON Missense_D775G,Missense_D775G,Missense_D74G exm1182617 15 81592311 [T/C] NM_001172128,NM_172217,NM_004513 IL16,IL16,IL16 EXON Missense_R882W,Missense_R882W,Missense_R181W exm1182618 15 81592333 [A/G] NM_001172128,NM_172217,NM_004513 IL16,IL16,IL16 EXON Missense_R889Q,Missense_R889Q,Missense_R188Q exm1182620 15 81592384 [T/C] NM_001172128,NM_172217,NM_004513 IL16,IL16,IL16 EXON Missense_S906L,Missense_S906L,Missense_S205L exm1182622 15 81592411 [G/C] NM_001172128,NM_172217,NM_004513 IL16,IL16,IL16 EXON Missense_R915T,Missense_R915T,Missense_R214T exm1182626 15 81592489 [T/G] NM_001172128,NM_172217,NM_004513 IL16,IL16,IL16 EXON Missense_L941R,Missense_L941R,Missense_L240R exm1182627 15 81592548 [A/G] NM_001172128,NM_172217,NM_004513 IL16,IL16,IL16 EXON Missense_S961G,Missense_S961G,Missense_S260G exm1182632 15 81592654 [T/C] NM_001172128,NM_172217,NM_004513 IL16,IL16,IL16 EXON Missense_S996L,Missense_S996L,Missense_S295L exm1182638 15 81592710 [C/G] NM_001172128,NM_172217,NM_004513 IL16,IL16,IL16 EXON Missense_P1015A,Missense_P1015A,Missense_P314A exm1182641 15 81592746 [A/T] NM_001172128,NM_172217,NM_004513 IL16,IL16,IL16 EXON Missense_S1027T,Missense_S1027T,Missense_S326T exm1182649 15 81593685 [C/G] NM_001172128,NM_172217,NM_004513 IL16,IL16,IL16 EXON Missense_N1050K,Missense_N1050K,Missense_N349K exm1841798 15 81593713 [C/G] NM_001172128,NM_172217,NM_004513 IL16,IL16,IL16 EXON Missense_G1060R,Missense_G1060R,Missense_G359R exm1182654 15 81593738 [T/A] NM_001172128,NM_172217,NM_004513 IL16,IL16,IL16 EXON Missense_D1068V,Missense_D1068V,Missense_D367V exm1182658 15 81593811 [A/T] NM_001172128,NM_172217,NM_004513 IL16,IL16,IL16 EXON Missense_K1092N,Missense_K1092N,Missense_K391N exm1182661 15 81595991 [A/G] NM_001172128,NM_172217,NM_004513 IL16,IL16,IL16 EXON Synonymous_T1140T,Synonymous_T1140T,Synonymous_T439T exm1182664 15 81598269 [T/G] NM_001172128,NM_172217,NM_004513 IL16,IL16,IL16 EXON Missense_N1147K,Missense_N1147K,Missense_N446K exm1182669 15 81598355 [A/G] NM_001172128,NM_172217,NM_004513 IL16,IL16,IL16 EXON Missense_H1176R,Missense_H1176R,Missense_H475R exm1182675 15 81598492 [A/G] NM_001172128,NM_172217,NM_004513 IL16,IL16,IL16 EXON Missense_V1222I,Missense_V1222I,Missense_V521I exm1182689 15 81601078 [T/C] NM_001172128,NM_172217,NM_004513 IL16,IL16,IL16 EXON Missense_T1312M,Missense_T1313M,Missense_T612M exm1182696 15 81605655 [T/C] NM_181900 STARD5 EXON Missense_R195H exm1182697 15 81605656 [A/G] NM_181900 STARD5 EXON Missense_R195C exm1182699 15 81605662 [A/G] NM_181900 STARD5 EXON Missense_F193L exm1182704 15 81610777 [A/C] NM_181900 STARD5 EXON Missense_C156F exm1182709 15 81611692 [T/C] NM_181900 STARD5 EXON Missense_I130V exm1182714 15 81614802 [T/C] NM_181900 STARD5 EXON Missense_V77M exm1841832 15 81614805 [A/G] NM_181900 STARD5 EXON Nonsense_R76X exm1182716 15 81614811 [T/C] NM_181900 STARD5 EXON Missense_G74S exm1182732 15 81616416 [T/C] NM_181900 STARD5 EXON Missense_M9V exm1182735 15 81624768 [T/C] NM_001080532 TMC3 EXON Missense_D1099N exm1182738 15 81624822 [T/C] NM_001080532 TMC3 EXON Missense_K1081E exm1182741 15 81624929 [T/G] NM_001080532 TMC3 EXON Nonsense_S1045X exm1182745 15 81624974 [T/C] NM_001080532 TMC3 EXON Missense_G1030E exm1182748 15 81625028 [T/C] NM_001080532 TMC3 EXON Missense_R1012K exm1182749 15 81625116 [A/G] NM_001080532 TMC3 EXON Missense_R983W exm1182750 15 81625161 [A/G] NM_001080532 TMC3 EXON Missense_R968W exm1182755 15 81625385 [T/C] NM_001080532 TMC3 EXON Missense_C893Y exm1182761 15 81625517 [A/T] NM_001080532 TMC3 EXON Missense_D849V exm1182762 15 81625540 [T/C] NM_001080532 TMC3 EXON Missense_M841I exm1182769 15 81627121 [T/C] NM_001080532 TMC3 EXON Missense_R800K exm1182770 15 81627136 [A/G] NM_001080532 TMC3 EXON Missense_P795L exm1182778 15 81627314 [A/G] NM_001080532 TMC3 EXON Nonsense_R736X exm1182783 15 81630231 [A/T] NM_001080532 TMC3 EXON Missense_S706T exm1182796 15 81633741 [A/G] NM_001080532 TMC3 EXON Nonsense_R612X exm1182799 15 81633819 [T/C] NM_001080532 TMC3 EXON Missense_V586I exm1182803 15 81635628 [T/C] NM_001080532 TMC3 EXON Missense_G569E exm1182808 15 81636302 [A/G] NM_001080532 TMC3 EXON Missense_R535W exm1182814 15 81637167 [T/G] NM_001080532 TMC3 EXON Missense_N486K exm1182815 15 81637207 [A/G] NM_001080532 TMC3 EXON Missense_T473I exm1182818 15 81637282 [A/G] NM_001080532 TMC3 EXON Missense_P448L exm1182822 15 81641814 [T/C] NM_001080532 TMC3 EXON Missense_R393H exm1182825 15 81641872 [T/G] NM_001080532 TMC3 EXON Missense_P374T exm1182830 15 81644098 [T/C] NM_001080532 TMC3 EXON Synonymous_V340V exm1841887 15 81648072 [T/C] NM_001080532 TMC3 EXON Missense_K310R exm1182835 15 81648870 [T/C] NM_001080532 TMC3 EXON Missense_R270Q exm1182839 15 81650559 [T/C] NM_001080532 TMC3 EXON Missense_R225Q exm1182845 15 81650593 [T/C] NM_001080532 TMC3 EXON Missense_G214S exm1182850 15 81650757 [T/C] NM_001080532 TMC3 EXON Missense_V196I exm1182851 15 81650760 [T/C] NM_001080532 TMC3 EXON Missense_T195A exm1182852 15 81650796 [A/G] NM_001080532 TMC3 EXON Missense_P183S exm1182853 15 81651738 [T/G] NM_001080532 TMC3 EXON Missense_I157L exm1182855 15 81651796 [A/G] NM_001080532 TMC3 EXON Synonymous_G137G exm2252329 15 81651796 [A/G] NM_001080532 TMC3 EXON Synonymous_G137G exm1182856 15 81654618 [T/C] NM_001080532 TMC3 EXON Missense_A113T exm1182857 15 81654624 [A/G] NM_001080532 TMC3 EXON Missense_R111C exm1841899 15 81660619 [T/C] NM_001080532 TMC3 EXON Missense_R96Q exm2267795 15 81661346 [A/G] NM_001080532 TMC3 Silent exm1182862 15 81665021 [A/T] NM_001080532 TMC3 EXON Missense_Q49H exm1182864 15 81665039 [C/G] NM_001080532 TMC3 EXON Missense_D43E exm1182865 15 81666348 [T/C] NM_001080532 TMC3 EXON Missense_Q24R exm2267846 15 81778698 [A/G] exm-rs969348 15 81847279 [A/G] exm1182904 15 82336141 [A/G] NM_032246 MEX3B EXON Missense_P357L exm1182905 15 82336154 [A/G] NM_032246 MEX3B EXON Missense_P353S exm1182909 15 82336289 [T/G] NM_032246 MEX3B EXON Missense_S308R exm1182921 15 82336514 [T/C] NM_032246 MEX3B EXON Missense_I233V exm2252332 15 82336551 [T/C] NM_032246 MEX3B EXON Synonymous_E220E exm-rs12324805 15 82352200 [A/C] exm2267796 15 82360108 [A/G] exm1182949 15 82422800 [T/C] NM_001040610,NM_024580 EFTUD1,EFTUD1 EXON Missense_A1042T,Missense_A1093T exm1182953 15 82431009 [T/C] NM_001040610,NM_024580 EFTUD1,EFTUD1 EXON Missense_S1004N,Missense_S1055N exm1182955 15 82431145 [T/C] NM_001040610,NM_024580 EFTUD1,EFTUD1 EXON Missense_V959I,Missense_V1010I exm1182959 15 82443845 [T/C] NM_001040610,NM_024580 EFTUD1,EFTUD1 EXON Missense_M933V,Missense_M984V exm1182961 15 82443866 [A/G] NM_001040610,NM_024580 EFTUD1,EFTUD1 EXON Missense_P926S,Missense_P977S exm1182972 15 82444154 [T/G] NM_001040610,NM_024580 EFTUD1,EFTUD1 EXON Missense_P830T,Missense_P881T exm1182975 15 82444183 [T/C] NM_001040610,NM_024580 EFTUD1,EFTUD1 EXON Missense_S820N,Missense_S871N exm1182982 15 82444453 [A/G] NM_001040610,NM_024580 EFTUD1,EFTUD1 EXON Missense_S730F,Missense_S781F exm1182985 15 82444469 [T/C] NM_001040610,NM_024580 EFTUD1,EFTUD1 EXON Missense_M725V,Missense_M776V exm1182987 15 82444527 [A/C] NM_001040610,NM_024580 EFTUD1,EFTUD1 EXON Missense_M705I,Missense_M756I exm1182994 15 82444663 [T/C] NM_001040610,NM_024580 EFTUD1,EFTUD1 EXON Missense_K660R,Missense_K711R exm1183002 15 82456227 [T/C] NM_001040610,NM_024580 EFTUD1,EFTUD1 EXON Missense_I566V,Missense_I617V exm2223930 15 82512106 [T/C] NM_001040610,NM_024580 EFTUD1,EFTUD1 EXON Missense_N449D,Missense_N500D exm1183056 15 82523207 [A/C] NM_001040610,NM_024580 EFTUD1,EFTUD1 EXON Missense_K228N,Missense_K279N exm1183066 15 82530667 [T/C] NM_001040610,NM_024580 EFTUD1,EFTUD1 EXON Missense_I187V,Missense_I238V exm1183074 15 82532760 [T/C] NM_001040610,NM_024580 EFTUD1,EFTUD1 EXON Missense_Q121R,Missense_Q172R exm1183085 15 82533742 [T/C] NM_001040610,NM_024580 EFTUD1,EFTUD1 EXON Missense_N32D,Missense_N83D exm1183086 15 82545040 [T/C] NM_001040610,NM_024580 EFTUD1,EFTUD1 EXON Silent,Missense_Y79C exm1183089 15 82555242 [A/G] NM_001008226 FAM154B EXON Missense_S8G exm1183092 15 82563946 [T/C] NM_001008226 FAM154B EXON Missense_S19L exm1183095 15 82563991 [T/C] NM_001008226 FAM154B EXON Missense_P34L exm1183097 15 82564057 [T/C] NM_001008226 FAM154B EXON Missense_S56L exm1183098 15 82564060 [A/G] NM_001008226 FAM154B EXON Missense_Y57C exm1841978 15 82564081 [T/C] NM_001008226 FAM154B EXON Missense_I64T exm1183101 15 82564087 [A/G] NM_001008226 FAM154B EXON Missense_R66Q exm1183111 15 82574541 [A/G] NM_001008226 FAM154B EXON Missense_G112E exm1183112 15 82574549 [A/G] NM_001008226 FAM154B EXON Missense_T115A exm1183119 15 82574661 [A/G] NM_001008226 FAM154B EXON Missense_R152H exm1183124 15 82574770 [T/G] NM_001008226 FAM154B EXON Missense_F188L exm1183127 15 82574799 [T/C] NM_001008226 FAM154B EXON Missense_L198P exm1183147 15 82575135 [C/G] NM_001008226 FAM154B EXON Missense_S310C exm1183152 15 82575225 [G/C] NM_001008226 FAM154B EXON Missense_A340G exm1183153 15 82575269 [A/G] NM_001008226 FAM154B EXON Missense_V355I exm1183154 15 82575281 [T/C] NM_001008226 FAM154B EXON Missense_P359S exm1183159 15 82575312 [A/C] NM_001008226 FAM154B EXON Missense_Y369S exm1183163 15 82575372 [A/G] NM_001008226 FAM154B EXON Missense_R389H exm1183209 15 83218270 [T/C] NM_030594,NM_001079534,NM_001079533,NM_001079535 CPEB1,CPEB1,CPEB1,CPEB1 EXON Missense_D447N,Missense_D372N,Missense_D377N,Missense_D372N exm1183214 15 83221316 [G/C] NM_030594,NM_001079534,NM_001079533,NM_001079535 CPEB1,CPEB1,CPEB1,CPEB1 EXON Missense_Q372E,Missense_Q297E,Missense_Q302E,Missense_Q297E exm1183233 15 83224779 [T/C] NM_030594,NM_001079534,NM_001079533,NM_001079535 CPEB1,CPEB1,CPEB1,CPEB1 EXON Missense_D234N,Missense_D159N,Missense_D159N,Missense_D159N exm1183244 15 83226598 [T/C] NM_030594,NM_001079534,NM_001079533,NM_001079535 CPEB1,CPEB1,CPEB1,CPEB1 EXON Missense_R173Q,Missense_R98Q,Missense_R98Q,Missense_R98Q exm1183247 15 83240095 [T/C] NM_030594,NM_001079534,NM_001079533,NM_001079535 CPEB1,CPEB1,CPEB1,CPEB1 EXON Synonymous_S126S,Synonymous_S51S,Synonymous_S51S,Synonymous_S51S exm1183249 15 83240107 [T/G] NM_030594,NM_001079534,NM_001079533,NM_001079535 CPEB1,CPEB1,CPEB1,CPEB1 EXON Missense_S122R,Missense_S47R,Missense_S47R,Missense_S47R exm1183250 15 83240214 [A/G] NM_030594,NM_001079534,NM_001079533,NM_001079535 CPEB1,CPEB1,CPEB1,CPEB1 EXON Missense_R87C,Missense_R12C,Missense_R12C,Missense_R12C exm-rs783540 15 83254708 [A/G] NM_030594 CPEB1 Silent exm1183259 15 83296073 [T/C] NM_030594 CPEB1 EXON Missense_A21T exm1183260 15 83296111 [T/G] NM_030594 CPEB1 EXON Missense_E8A exm1183263 15 83328319 [A/G] NR_046096,NM_004644 LOC283692,AP3B2 EXON Silent,Missense_T1081I exm1183264 15 83328325 [T/G] NR_046096,NM_004644 LOC283692,AP3B2 EXON Silent,Missense_A1079D exm1183268 15 83328407 [A/G] NR_046096,NM_004644 LOC283692,AP3B2 EXON Silent,Missense_R1052W exm1183272 15 83328609 [T/G] NR_046096,NM_004644 LOC283692,AP3B2 EXON Silent,Missense_S1029Y exm1842025 15 83328628 [T/G] NR_046096,NM_004644 LOC283692,AP3B2 EXON Silent,Missense_R1023S exm1183276 15 83328678 [T/C] NR_046096,NM_004644 LOC283692,AP3B2 EXON Silent,Missense_R1006Q exm1183278 15 83330603 [C/G] NR_046096,NM_004644 LOC283692,AP3B2 EXON Silent,Missense_S978T exm1183288 15 83331487 [T/C] NR_046096,NM_004644 LOC283692,AP3B2 EXON Silent,Missense_K912R exm1842039 15 83331647 [A/G] NR_046096,NM_004644 LOC283692,AP3B2 EXON Silent,Missense_R859W exm1183302 15 83332567 [A/G] NR_046096,NM_004644 LOC283692,AP3B2 EXON Silent,Missense_W789R exm1183313 15 83333168 [T/C] NR_046096,NM_004644 LOC283692,AP3B2 EXON Silent,Missense_D719N exm1183361 15 83349398 [T/G] NR_046096,NM_004644 LOC283692,AP3B2 EXON Silent,Missense_K294T exm1183367 15 83349864 [G/C] NR_046096,NM_004644 LOC283692,AP3B2 EXON Silent,Synonymous_T196T exm1183377 15 83358130 [T/C] NR_046096,NM_004644 LOC283692,AP3B2 EXON Silent,Synonymous_A63A exm1183397 15 83428126 [T/C] NM_001007122 FSD2 EXON Missense_M742V exm1183398 15 83428128 [A/G] NM_001007122 FSD2 EXON Missense_S741L exm1183399 15 83428158 [A/G] NM_001007122 FSD2 EXON Missense_P731L exm1183401 15 83428192 [T/C] NM_001007122 FSD2 EXON Missense_E720K exm1183403 15 83428218 [A/G] NM_001007122 FSD2 EXON Missense_L711P exm1183404 15 83428245 [A/G] NM_001007122 FSD2 EXON Missense_F702S exm1183410 15 83430990 [A/G] NM_001007122 FSD2 EXON Missense_H621Y exm1183411 15 83430996 [A/G] NM_001007122 FSD2 EXON Nonsense_R619X exm1183418 15 83433999 [A/G] NM_001007122 FSD2 EXON Missense_S580F exm2223937 15 83434031 [T/G] NM_001007122 FSD2 EXON Missense_N569K exm2267798 15 83434410 [A/G] NM_001007122 FSD2 Silent exm1183421 15 83434652 [A/G] NM_001007122 FSD2 EXON Missense_I562T exm1183422 15 83434659 [A/G] NM_001007122 FSD2 EXON Missense_H560Y exm1183431 15 83438523 [T/C] NM_001007122 FSD2 EXON Missense_E461K exm1183440 15 83440836 [A/G] NM_001007122 FSD2 EXON Missense_T419M exm1183442 15 83440864 [A/G] NM_001007122 FSD2 EXON Missense_R410W exm1183454 15 83447533 [T/C] NM_001007122 FSD2 EXON Missense_I366V exm1183455 15 83447578 [G/C] NM_001007122 FSD2 EXON Missense_D351H exm1183457 15 83447602 [T/C] NM_001007122 FSD2 EXON Missense_I343V exm1183459 15 83447635 [T/C] NM_001007122 FSD2 EXON Missense_G332R exm1183466 15 83451646 [A/C] NM_001007122 FSD2 EXON Nonsense_Y289X exm1183482 15 83455676 [T/C] NM_001007122 FSD2 EXON Missense_R156H exm1183483 15 83455697 [A/G] NM_001007122 FSD2 EXON Missense_A149V exm1183486 15 83455758 [G/C] NM_001007122 FSD2 EXON Missense_A129P exm1183492 15 83455845 [T/C] NM_001007122 FSD2 EXON Missense_V100I exm1183496 15 83456003 [T/A] NM_001007122 FSD2 EXON Missense_V47D exm1183529 15 83481859 [A/T] NM_001080435 WHAMM EXON Missense_I205N exm1183564 15 83495526 [C/G] NM_001080435 WHAMM EXON Missense_E523D exm1183565 15 83499354 [T/C] NM_001080435 WHAMM EXON Missense_R549C exm1842138 15 83499355 [A/G] NM_001080435 WHAMM EXON Missense_R549H exm1183567 15 83499454 [T/C] NM_001080435 WHAMM EXON Missense_A582V exm1183569 15 83499472 [T/C] NM_001080435 WHAMM EXON Missense_P588L exm1183571 15 83499505 [T/C] NM_001080435 WHAMM EXON Missense_S599L exm1183581 15 83499679 [G/C] NM_001080435 WHAMM EXON Missense_P657R exm1183583 15 83499688 [A/G] NM_001080435 WHAMM EXON Missense_R660H exm1183586 15 83499766 [A/G] NM_001080435 WHAMM EXON Missense_R686H exm1183587 15 83499780 [A/G] NM_001080435 WHAMM EXON Missense_E691K exm1183595 15 83502031 [T/C] NM_001080435 WHAMM EXON Missense_R725W exm1183603 15 83502077 [A/G] NM_001080435 WHAMM EXON Missense_N740S exm1183608 15 83502175 [T/C] NM_001080435 WHAMM EXON Missense_R773C exm1183609 15 83502176 [A/G] NM_001080435 WHAMM EXON Missense_R773H exm1183613 15 83518474 [T/C] NM_199330,NM_004839 HOMER2,HOMER2 EXON Missense_D353G,Missense_D342G exm1183624 15 83519927 [A/G] NM_199330,NM_004839 HOMER2,HOMER2 EXON Synonymous_C284C,Synonymous_C273C exm1183636 15 83523404 [A/G] NM_199330,NM_004839 HOMER2,HOMER2 EXON Missense_R226C,Missense_R215C exm1183637 15 83523409 [T/C] NM_199330,NM_004839 HOMER2,HOMER2 EXON Missense_R224Q,Missense_R213Q exm1183649 15 83527867 [T/C] NM_199330,NM_004839 HOMER2,HOMER2 EXON Synonymous_T147T,Synonymous_T136T exm1183658 15 83532948 [T/C] NM_199330,NM_004839 HOMER2,HOMER2 EXON Missense_K120E,Missense_K120E exm2223943 15 83544030 [T/C] NM_199330,NM_004839 HOMER2,HOMER2 EXON Missense_T97A,Missense_T97A exm1183664 15 83544138 [T/C] NM_199330,NM_004839 HOMER2,HOMER2 EXON Missense_I61V,Missense_I61V exm1183705 15 83674432 [A/G] NM_001160116,NM_001160115,NR_027650,NM_001160114,NM_144597 C15orf40,C15orf40,C15orf40,C15orf40,C15orf40 EXON Silent,Silent,Silent,Silent,Missense_R127C exm1183711 15 83677283 [A/G] NM_001160116,NM_001160115,NR_027650,NM_001160114,NM_144597,NR_027649,NM_001160113 C15orf40,C15orf40,C15orf40,C15orf40,C15orf40,C15orf40,C15orf40 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_F128S exm1183721 15 83679045 [T/C] NM_001160116,NM_001160115,NR_027650,NM_001160114,NM_144597,NR_027649,NM_001160113 C15orf40,C15orf40,C15orf40,C15orf40,C15orf40,C15orf40,C15orf40 EXON Missense_G61E,Missense_G61E,Silent,Missense_G61E,Missense_G61E,Silent,Missense_G61E exm1183724 15 83680278 [T/G] NM_001160116,NM_001160115,NR_027650,NM_001160114,NM_144597,NR_027649,NM_001160113 C15orf40,C15orf40,C15orf40,C15orf40,C15orf40,C15orf40,C15orf40 EXON Missense_M28L,Missense_M28L,Silent,Missense_M28L,Missense_M28L,Silent,Missense_M28L exm1183726 15 83680287 [A/G] NM_001160116,NM_001160115,NR_027650,NM_001160114,NM_144597,NR_027649,NM_001160113 C15orf40,C15orf40,C15orf40,C15orf40,C15orf40,C15orf40,C15orf40 EXON Missense_C25R,Missense_C25R,Silent,Missense_C25R,Missense_C25R,Silent,Missense_C25R exm1183727 15 83680295 [T/C] NM_001160116,NM_001160115,NR_027650,NM_001160114,NM_144597,NR_027649,NM_001160113 C15orf40,C15orf40,C15orf40,C15orf40,C15orf40,C15orf40,C15orf40 EXON Missense_R22Q,Missense_R22Q,Silent,Missense_R22Q,Missense_R22Q,Silent,Missense_R22Q exm1183728 15 83680313 [T/G] NM_001160116,NM_001160115,NR_027650,NM_001160114,NM_144597,NR_027649,NM_001160113 C15orf40,C15orf40,C15orf40,C15orf40,C15orf40,C15orf40,C15orf40 EXON Missense_N16T,Missense_N16T,Silent,Missense_N16T,Missense_N16T,Silent,Missense_N16T exm1183729 15 83680319 [A/G] NM_001160116,NM_001160115,NR_027650,NM_001160114,NM_144597,NR_027649,NM_001160113 C15orf40,C15orf40,C15orf40,C15orf40,C15orf40,C15orf40,C15orf40 EXON Missense_T14I,Missense_T14I,Silent,Missense_T14I,Missense_T14I,Silent,Missense_T14I exm1183730 15 83680329 [A/G] NM_001160116,NM_001160115,NR_027650,NM_001160114,NM_144597,NR_027649,NM_001160113 C15orf40,C15orf40,C15orf40,C15orf40,C15orf40,C15orf40,C15orf40 EXON Missense_L11F,Missense_L11F,Silent,Missense_L11F,Missense_L11F,Silent,Missense_L11F exm2252336 15 83686948 [T/C] NM_001011885,NM_025238 BTBD1,BTBD1 EXON Silent,Synonymous_G440G exm1183741 15 83687501 [C/G] NM_001011885,NM_025238 BTBD1,BTBD1 EXON Silent,Missense_E416D exm1183742 15 83687552 [A/G] NM_001011885,NM_025238 BTBD1,BTBD1 EXON Missense_V370A,Synonymous_S399S exm1183748 15 83698985 [A/G] NM_001011885,NM_025238 BTBD1,BTBD1 EXON Nonsense_R320X,Nonsense_R320X exm2252337 15 83718847 [T/C] NM_001011885,NM_025238 BTBD1,BTBD1 EXON Synonymous_E214E,Synonymous_E214E exm1183763 15 83718867 [T/C] NM_001011885,NM_025238 BTBD1,BTBD1 EXON Missense_M208V,Missense_M208V exm1183764 15 83718875 [T/C] NM_001011885,NM_025238 BTBD1,BTBD1 EXON Missense_K205R,Missense_K205R exm-rs1568657 15 83726179 [A/G] NM_001011885,NM_025238 BTBD1,BTBD1 Silent,Silent exm2272321 15 83745534 [T/C] exm1183795 15 83781599 [T/G] NM_001144903,NM_023003 TM6SF1,TM6SF1 EXON Missense_L48R,Missense_L48R exm1183796 15 83781607 [T/C] NM_001144903,NM_023003 TM6SF1,TM6SF1 EXON Missense_R51C,Missense_R51C exm1183802 15 83781631 [T/C] NM_001144903,NM_023003 TM6SF1,TM6SF1 EXON Missense_P59S,Missense_P59S exm1183811 15 83788351 [A/G] NM_001144903,NM_023003 TM6SF1,TM6SF1 EXON Missense_A106T,Missense_A106T exm1183815 15 83790690 [T/C] NM_001144903,NM_023003 TM6SF1,TM6SF1 EXON Missense_I139T,Missense_I139T exm1842207 15 83790737 [C/G] NM_001144903,NM_023003 TM6SF1,TM6SF1 EXON Missense_V155L,Missense_V155L exm1183870 15 83926321 [T/C] NM_001717 BNC1 EXON Missense_R953Q exm2252338 15 83926626 [A/G] NM_001717 BNC1 EXON Synonymous_S851S exm1183889 15 83926805 [A/G] NM_001717 BNC1 EXON Missense_R792C exm1183890 15 83926820 [T/C] NM_001717 BNC1 EXON Missense_S787G exm1183896 15 83931761 [A/G] NM_001717 BNC1 EXON Missense_H748Y exm1183897 15 83931796 [T/C] NM_001717 BNC1 EXON Missense_K736R exm1183898 15 83931834 [T/G] NM_001717 BNC1 EXON Missense_D723E exm1183900 15 83931887 [T/C] NM_001717 BNC1 EXON Missense_V706M exm1183906 15 83932037 [A/G] NM_001717 BNC1 EXON Missense_H656Y exm1183908 15 83932078 [A/G] NM_001717 BNC1 EXON Missense_L642S exm1183919 15 83932355 [T/C] NM_001717 BNC1 EXON Missense_A550T exm1842243 15 83932408 [A/G] NM_001717 BNC1 EXON Missense_L532P exm1183927 15 83932438 [A/T] NM_001717 BNC1 EXON Missense_L522H exm1183930 15 83932481 [A/G] NM_001717 BNC1 EXON Missense_L508F exm1183949 15 83932960 [T/C] NM_001717 BNC1 EXON Missense_N348S exm1183953 15 83933015 [T/G] NM_001717 BNC1 EXON Missense_T330P exm2252340 15 84179115 [T/C] NM_003027,NR_026799 SH3GL3,SH3GL3 Silent,Silent exm1184002 15 84257447 [A/C] NM_003027,NR_026799 SH3GL3,SH3GL3 EXON Missense_E254D,Silent exm1184003 15 84257493 [A/G] NM_003027,NR_026799 SH3GL3,SH3GL3 EXON Missense_V270I,Silent exm-rs2562784 15 84286492 [A/G] NM_003027,NR_026799 SH3GL3,SH3GL3 Silent,Silent exm1184008 15 84286896 [G/C] NM_003027,NR_026799 SH3GL3,SH3GL3 EXON Missense_Q301E,Silent exm-rs2554380 15 84315884 [T/C] exm1184015 15 84324527 [T/C] NM_207517 ADAMTSL3 EXON Missense_T5M exm2272271 15 84327771 [T/C] NM_207517 ADAMTSL3 Silent exm1184022 15 84373157 [A/C] NM_207517 ADAMTSL3 EXON Missense_S29Y exm1184025 15 84373247 [A/G] NM_207517 ADAMTSL3 EXON Missense_R59H exm1184026 15 84373250 [A/G] NM_207517 ADAMTSL3 EXON Missense_Y60C exm1184033 15 84473424 [T/C] NM_207517 ADAMTSL3 EXON Missense_R114W exm1184036 15 84488577 [A/T] NM_207517 ADAMTSL3 EXON Missense_D126E exm1842284 15 84488608 [A/G] NM_207517 ADAMTSL3 EXON Missense_A137T exm1184040 15 84488636 [A/G] NM_207517 ADAMTSL3 EXON Missense_H146R exm1184047 15 84506856 [T/C] NM_207517 ADAMTSL3 EXON Missense_R206W exm1184055 15 84506964 [A/G] NM_207517 ADAMTSL3 EXON Missense_K242E exm1184060 15 84527554 [A/G] NM_207517 ADAMTSL3 EXON Missense_R255Q exm1184065 15 84539613 [A/G] NM_207517 ADAMTSL3 EXON Missense_V288I exm1184066 15 84539619 [C/G] NM_207517 ADAMTSL3 EXON Missense_L290V exm1184080 15 84558929 [T/C] NM_207517 ADAMTSL3 EXON Missense_H381Y exm1184084 15 84560112 [A/C] NM_207517 ADAMTSL3 EXON Missense_H415N exm2252341 15 84560120 [A/G] NM_207517 ADAMTSL3 EXON Synonymous_Q417Q exm1184088 15 84561468 [T/C] NM_207517 ADAMTSL3 EXON Missense_V432A exm1184099 15 84566644 [A/G] NM_207517 ADAMTSL3 EXON Missense_R501Q exm-rs10906982 15 84568158 [T/A] NM_207517 ADAMTSL3 Silent exm1184102 15 84568483 [T/C] NM_207517 ADAMTSL3 EXON Missense_T567M exm-rs7183263 15 84573041 [T/G] NM_207517 ADAMTSL3 Silent exm-rs11259936 15 84580582 [A/C] NM_207517 ADAMTSL3 Silent exm1184105 15 84581888 [T/C] NM_207517 ADAMTSL3 EXON Missense_P582L exm1184107 15 84581896 [G/C] NM_207517 ADAMTSL3 EXON Missense_Q585E exm1184115 15 84581995 [T/C] NM_207517 ADAMTSL3 EXON Missense_R618W exm1184122 15 84582124 [T/G] NM_207517 ADAMTSL3 EXON Missense_V661L exm1184126 15 84592782 [G/C] NM_207517 ADAMTSL3 EXON Missense_P705R exm1184129 15 84611367 [C/G] NM_207517 ADAMTSL3 EXON Missense_G713R exm1842306 15 84611451 [A/G] NM_207517 ADAMTSL3 EXON Missense_E741K exm1184135 15 84611494 [A/G] NM_207517 ADAMTSL3 EXON Missense_N755S exm1184151 15 84611785 [A/G] NM_207517 ADAMTSL3 EXON Missense_C814Y exm1184153 15 84611805 [T/C] NM_207517 ADAMTSL3 EXON Missense_P821S exm2223959 15 84639309 [A/G] NM_207517 ADAMTSL3 EXON Missense_R855H exm1184158 15 84639336 [A/G] NM_207517 ADAMTSL3 EXON Missense_R864K exm1184159 15 84639350 [T/C] NM_207517 ADAMTSL3 EXON Missense_L869F exm1184163 15 84651057 [A/G] NM_207517 ADAMTSL3 EXON Missense_E893K exm1184173 15 84651232 [A/G] NM_207517 ADAMTSL3 EXON Missense_R951H exm1184181 15 84651321 [T/C] NM_207517 ADAMTSL3 EXON Missense_R981W exm1184185 15 84651381 [T/C] NM_207517 ADAMTSL3 EXON Missense_R1001W exm1842319 15 84651524 [A/C] NM_207517 ADAMTSL3 EXON Missense_D1048E exm1184188 15 84651553 [T/C] NM_207517 ADAMTSL3 EXON Missense_A1058V exm1184199 15 84651796 [A/G] NM_207517 ADAMTSL3 EXON Missense_R1139Q exm1184223 15 84683312 [T/G] NM_207517 ADAMTSL3 EXON Missense_I1331R exm1184228 15 84683416 [T/G] NM_207517 ADAMTSL3 EXON Missense_V1366F exm1184229 15 84683428 [A/G] NM_207517 ADAMTSL3 EXON Missense_T1370A exm1184232 15 84683465 [A/T] NM_207517 ADAMTSL3 EXON Missense_L1382H exm1184235 15 84685153 [A/G] NM_207517 ADAMTSL3 EXON Missense_S1392N exm1184237 15 84685168 [T/C] NM_207517 ADAMTSL3 EXON Missense_L1397P exm1184242 15 84685231 [T/C] NM_207517 ADAMTSL3 EXON Missense_T1418I exm1184249 15 84690330 [A/G] NM_207517 ADAMTSL3 EXON Missense_R1481Q exm1184253 15 84694067 [A/G] NM_207517 ADAMTSL3 EXON Missense_R1512Q exm1184254 15 84694079 [T/A] NM_207517 ADAMTSL3 EXON Missense_N1516I exm1184260 15 84700097 [A/G] NM_207517 ADAMTSL3 EXON Missense_R1556H exm1184261 15 84700103 [T/C] NM_207517 ADAMTSL3 EXON Missense_M1558T exm1184262 15 84700108 [T/C] NM_207517 ADAMTSL3 EXON Missense_R1560C exm1184263 15 84700109 [A/G] NM_207517 ADAMTSL3 EXON Missense_R1560H exm1184265 15 84700167 [C/G] NM_207517 ADAMTSL3 EXON Missense_N1579K exm1184271 15 84705645 [C/G] NM_207517 ADAMTSL3 EXON Missense_I1625M exm1184275 15 84706461 [T/C] NM_207517 ADAMTSL3 EXON Missense_T1660I exm1184278 15 84706504 [C/G] NM_207517 ADAMTSL3 EXON Missense_L1674F exm1184279 15 84706518 [A/G] NM_207517 ADAMTSL3 EXON Missense_R1679H exm1184280 15 84706544 [T/C] NM_207517 ADAMTSL3 EXON Missense_C1688R exm2260485 15 84728405 [T/C] exm-rs7178655 15 84764241 [T/G] NR_036652 EFTUD1P1 Silent exm1184315 15 85147499 [A/G] NM_001007072,NM_181877,NM_017894 ZSCAN2,ZSCAN2,ZSCAN2 EXON Missense_R114Q,Missense_R114Q,Missense_R114Q exm1184321 15 85149771 [T/G] NM_001007072,NM_181877,NM_017894 ZSCAN2,ZSCAN2,ZSCAN2 EXON Silent,Silent,Missense_V140F exm1184330 15 85163896 [A/G] NM_181877 ZSCAN2 EXON Missense_R157H exm1184333 15 85163936 [C/G] NM_181877 ZSCAN2 EXON Missense_Q170H exm1842359 15 85163963 [C/G] NM_181877 ZSCAN2 EXON Missense_E179D exm1184337 15 85163998 [C/G] NM_181877 ZSCAN2 EXON Missense_S191T exm1184338 15 85164013 [A/C] NM_181877 ZSCAN2 EXON Missense_H196P exm1184340 15 85164049 [A/G] NM_181877 ZSCAN2 EXON Missense_Q208R exm1184370 15 85164597 [A/G] NM_181877 ZSCAN2 EXON Missense_K391E exm1184375 15 85164736 [A/G] NM_181877 ZSCAN2 EXON Missense_R437Q exm1184380 15 85164916 [T/C] NM_181877 ZSCAN2 EXON Missense_T497M exm1184384 15 85164942 [A/G] NM_181877 ZSCAN2 EXON Missense_E506K exm1184386 15 85164967 [A/G] NM_181877 ZSCAN2 EXON Missense_R514H exm2252344 15 85164977 [T/C] NM_181877 ZSCAN2 EXON Synonymous_L517L exm1184394 15 85165032 [A/G] NM_181877 ZSCAN2 EXON Missense_G536S exm1184435 15 85186712 [A/C] NM_032856 WDR73 EXON Missense_A376S exm1184440 15 85186837 [T/C] NM_032856 WDR73 EXON Missense_D334G exm1184446 15 85186892 [T/C] NM_032856 WDR73 EXON Missense_G316R exm1184451 15 85186903 [T/C] NM_032856 WDR73 EXON Missense_R312Q exm2223962 15 85188728 [A/C] NM_032856 WDR73 EXON Missense_G286V exm1184460 15 85188839 [T/C] NM_032856 WDR73 EXON Missense_R249H exm1184479 15 85189511 [T/C] NM_032856 WDR73 EXON Missense_V141I exm1184481 15 85189578 [A/C] NM_032856 WDR73 EXON Missense_D118E exm1184488 15 85191826 [A/G] NM_032856 WDR73 EXON Missense_R77C exm1842390 15 85198599 [T/C] NM_205858,NM_021077 NMB,NMB EXON Missense_I123V,Silent exm1184504 15 85198606 [T/C] NM_205858,NM_021077 NMB,NMB EXON Missense_M120I,Synonymous_X122X exm1184505 15 85198631 [A/G] NM_205858,NM_021077 NMB,NMB EXON Missense_A112V,Synonymous_L114L exm1842391 15 85200421 [T/C] NM_205858,NM_021077 NMB,NMB EXON Missense_A106T,Missense_A106T exm1184507 15 85200463 [C/G] NM_205858,NM_021077 NMB,NMB EXON Missense_L92V,Missense_L92V exm1184508 15 85200520 [T/G] NM_205858,NM_021077 NMB,NMB EXON Missense_P73T,Missense_P73T exm1842402 15 85224019 [A/G] NM_001271922,NM_001271920,NR_073518,NM_014300,NM_001271921,NM_001271919,NM_001271918 SEC11A,SEC11A,SEC11A,SEC11A,SEC11A,SEC11A,SEC11A EXON Missense_A119V,Missense_A119V,Silent,Missense_A119V,Missense_A69V,Silent,Missense_A93V exm1184544 15 85326313 [C/G] NM_014630 ZNF592 EXON Missense_P136R exm1184554 15 85326594 [A/C] NM_014630 ZNF592 EXON Missense_K230Q exm1184558 15 85326634 [A/G] NM_014630 ZNF592 EXON Missense_E243G exm1184566 15 85326798 [A/G] NM_014630 ZNF592 EXON Missense_S298G exm1184569 15 85326834 [T/G] NM_014630 ZNF592 EXON Missense_D310Y exm1184574 15 85326955 [A/G] NM_014630 ZNF592 EXON Missense_R350H exm1184581 15 85327311 [G/C] NM_014630 ZNF592 EXON Missense_V469L exm1184606 15 85327966 [T/C] NM_014630 ZNF592 EXON Missense_S687L exm1184626 15 85341669 [T/G] NM_014630 ZNF592 EXON Missense_L900F exm1184631 15 85341859 [A/G] NM_014630 ZNF592 EXON Missense_S926N exm1184634 15 85341891 [T/C] NM_014630 ZNF592 EXON Missense_R937C exm1184644 15 85341990 [T/C] NM_014630 ZNF592 EXON Missense_R970C exm1184645 15 85342008 [T/C] NM_014630 ZNF592 EXON Missense_P976S exm1184663 15 85343171 [T/C] NM_014630 ZNF592 EXON Missense_T1079M exm1184701 15 85360252 [C/G] NM_020778 ALPK3 EXON Missense_R59G exm1842460 15 85360319 [T/C] NM_020778 ALPK3 EXON Missense_T81M exm1184713 15 85366575 [A/G] NM_020778 ALPK3 EXON Missense_R255Q exm1184734 15 85382307 [A/G] NM_020778 ALPK3 EXON Missense_R336H exm2223967 15 85382313 [T/C] NM_020778 ALPK3 EXON Missense_T338I exm1184743 15 85383145 [C/G] NM_020778 ALPK3 EXON Missense_T414S exm1184759 15 85383394 [A/G] NM_020778 ALPK3 EXON Missense_Y497C exm1184762 15 85383448 [A/G] NM_020778 ALPK3 EXON Missense_G515E exm1184763 15 85383450 [A/G] NM_020778 ALPK3 EXON Missense_A516T exm1184768 15 85383525 [T/C] NM_020778 ALPK3 EXON Missense_R541C exm1184775 15 85383640 [A/G] NM_020778 ALPK3 EXON Missense_G579E exm1184777 15 85383709 [A/G] NM_020778 ALPK3 EXON Missense_Q602R exm1184782 15 85383846 [A/C] NM_020778 ALPK3 EXON Missense_P648T exm1184791 15 85384032 [T/G] NM_020778 ALPK3 EXON Missense_C710G exm1184794 15 85384096 [T/C] NM_020778 ALPK3 EXON Missense_A731V exm1184796 15 85399645 [T/C] NM_020778 ALPK3 EXON Missense_T761M exm1842476 15 85399650 [T/C] NM_020778 ALPK3 EXON Missense_P763S exm1184802 15 85399707 [A/G] NM_020778 ALPK3 EXON Missense_G782R exm1184806 15 85399869 [T/C] NM_020778 ALPK3 EXON Missense_R836C exm1184807 15 85399885 [T/C] NM_020778 ALPK3 EXON Missense_T841M exm1184809 15 85399951 [A/T] NM_020778 ALPK3 EXON Missense_M863K exm1184812 15 85400115 [A/G] NM_020778 ALPK3 EXON Missense_A918T exm1184815 15 85400146 [A/G] NM_020778 ALPK3 EXON Missense_Q928R exm1184839 15 85400482 [T/G] NM_020778 ALPK3 EXON Missense_C1040F exm1184841 15 85400497 [A/G] NM_020778 ALPK3 EXON Missense_R1045Q exm1184843 15 85400499 [T/C] NM_020778 ALPK3 EXON Missense_P1046S exm1184846 15 85400566 [T/C] NM_020778 ALPK3 EXON Missense_T1068M exm1184855 15 85400643 [A/G] NM_020778 ALPK3 EXON Missense_G1094R exm1184860 15 85400716 [T/C] NM_020778 ALPK3 EXON Missense_L1118P exm1184874 15 85400934 [A/G] NM_020778 ALPK3 EXON Missense_G1191R exm1184882 15 85401082 [A/G] NM_020778 ALPK3 EXON Missense_R1240H exm1184888 15 85401259 [T/C] NM_020778 ALPK3 EXON Missense_P1299L exm1184890 15 85401271 [A/G] NM_020778 ALPK3 EXON Missense_G1303D exm1184895 15 85401331 [A/G] NM_020778 ALPK3 EXON Missense_Q1323R exm1184897 15 85401370 [T/C] NM_020778 ALPK3 EXON Missense_A1336V exm1184899 15 85401419 [T/C] NM_020778 ALPK3 EXON Synonymous_G1352G exm2252345 15 85401419 [T/C] NM_020778 ALPK3 EXON Synonymous_G1352G exm1184911 15 85401597 [T/C] NM_020778 ALPK3 EXON Missense_R1412W exm1184931 15 85402608 [A/G] NM_020778 ALPK3 EXON Missense_E1520K exm1184941 15 85403104 [A/G] NM_020778 ALPK3 EXON Missense_A1557T exm1184942 15 85403105 [A/C] NM_020778 ALPK3 EXON Missense_A1557D exm1184955 15 85405892 [A/G] NM_020778 ALPK3 EXON Missense_M1588V exm1184957 15 85405995 [T/C] NM_020778 ALPK3 EXON Missense_L1622P exm1184970 15 85406846 [A/G] NM_020778 ALPK3 EXON Missense_A1694T exm1184973 15 85407748 [T/G] NM_020778 ALPK3 EXON Missense_K1727N exm2223972 15 85411475 [A/C] NM_020778 ALPK3 EXON Missense_K1838Q exm1184987 15 85411508 [T/A] NM_020778 ALPK3 EXON Missense_R1849W exm1184991 15 85411571 [T/C] NM_020778 ALPK3 EXON Missense_R1870W exm1184993 15 85411581 [T/C] NM_020778 ALPK3 EXON Missense_A1873V exm1184994 15 85411596 [G/C] NM_020778 ALPK3 EXON Missense_A1878G exm1842513 15 85430976 [G/C] NM_004213,NM_201651 SLC28A1,SLC28A1 EXON Silent,Silent exm1185006 15 85431029 [C/G] NM_004213,NM_201651 SLC28A1,SLC28A1 EXON Missense_S13C,Missense_S13C exm1185007 15 85431038 [T/C] NM_004213,NM_201651 SLC28A1,SLC28A1 EXON Missense_P16L,Missense_P16L exm1185008 15 85431068 [A/C] NM_004213,NM_201651 SLC28A1,SLC28A1 EXON Missense_A26D,Missense_A26D exm1185015 15 85432034 [A/G] NM_004213,NM_201651 SLC28A1,SLC28A1 EXON Missense_S43N,Missense_S43N exm1185016 15 85432036 [A/C] NM_004213,NM_201651 SLC28A1,SLC28A1 EXON Missense_P44T,Missense_P44T exm1185019 15 85432067 [T/C] NM_004213,NM_201651 SLC28A1,SLC28A1 EXON Missense_A54V,Missense_A54V exm1185026 15 85433742 [T/C] NM_004213,NM_201651 SLC28A1,SLC28A1 EXON Missense_I85T,Missense_I85T exm1185034 15 85438333 [A/G] NM_004213,NM_201651 SLC28A1,SLC28A1 EXON Missense_R147H,Missense_R147H exm1185038 15 85438616 [A/G] NM_004213,NM_201651 SLC28A1,SLC28A1 EXON Silent,Missense_R157G exm1185048 15 85438665 [A/G] NM_004213,NM_201651 SLC28A1,SLC28A1 EXON Silent,Nonsense_W173X exm1185057 15 85447431 [A/G] NM_004213 SLC28A1 EXON Missense_V189I exm1185058 15 85447434 [T/G] NM_004213 SLC28A1 EXON Missense_A190S exm2276398 15 85447435 [G/C] NM_004213 SLC28A1 EXON Missense_A190G exm1185066 15 85448855 [T/C] NM_004213 SLC28A1 EXON Missense_A230V exm1185068 15 85448875 [A/C] NM_004213 SLC28A1 EXON Missense_Q237K exm1185079 15 85451997 [T/G] NM_004213 SLC28A1 EXON Missense_A256S exm1185082 15 85461794 [A/G] NM_004213 SLC28A1 EXON Missense_V279I exm1185089 15 85464254 [T/C] NM_004213 SLC28A1 EXON Missense_T304I exm1185093 15 85467219 [A/G] NM_004213 SLC28A1 EXON Missense_E321K exm1842553 15 85467235 [T/C] NM_004213 SLC28A1 EXON Missense_I326T exm1185094 15 85467271 [T/C] NM_004213 SLC28A1 EXON Missense_V338A exm1185108 15 85476446 [T/C] NM_004213 SLC28A1 EXON Missense_V385A exm1185126 15 85478601 [T/C] NM_004213 SLC28A1 EXON Missense_A478V exm1185134 15 85478726 [A/G] NM_004213 SLC28A1 EXON Missense_G520S exm1185136 15 85478729 [A/G] NM_004213 SLC28A1 EXON Missense_D521N exm1185138 15 85486695 [T/C] NM_004213 SLC28A1 EXON Missense_T534M exm1185141 15 85486730 [T/C] NM_004213 SLC28A1 EXON Missense_S546P exm1185146 15 85487844 [T/C] NM_004213 SLC28A1 EXON Missense_R571W exm1185148 15 85487857 [T/C] NM_004213 SLC28A1 EXON Missense_T575M exm1185157 15 85488083 [A/G] NM_004213 SLC28A1 EXON Missense_R620H exm1185174 15 85607620 [T/A] NM_001243137,NM_002605,NM_173454 PDE8A,PDE8A,PDE8A EXON Silent,Missense_Q69L,Missense_Q69L exm1185175 15 85607646 [A/G] NM_001243137,NM_002605,NM_173454 PDE8A,PDE8A,PDE8A EXON Missense_D6N,Missense_D78N,Missense_D78N exm1185188 15 85626823 [A/G] NM_001243137,NM_002605,NM_173454 PDE8A,PDE8A,PDE8A EXON Missense_N123D,Missense_N195D,Missense_N195D exm2272273 15 85635890 [T/C] NM_001243137,NM_002605,NM_173454 PDE8A,PDE8A,PDE8A Silent,Silent,Silent exm1185218 15 85656623 [A/G] NM_001243137,NM_002605,NM_173454 PDE8A,PDE8A,PDE8A EXON Missense_R305Q,Missense_R377Q,Missense_R331Q exm1185220 15 85657111 [A/G] NM_001243137,NM_002605,NM_173454 PDE8A,PDE8A,PDE8A EXON Missense_N326S,Missense_N398S,Missense_N352S exm1185221 15 85657120 [A/G] NM_001243137,NM_002605,NM_173454 PDE8A,PDE8A,PDE8A EXON Missense_N329S,Missense_N401S,Missense_N355S exm2274780 15 85657252 [T/C] NM_001243137,NM_002605,NM_173454 PDE8A,PDE8A,PDE8A EXON Missense_V373A,Missense_V445A,Missense_V399A exm1185229 15 85658680 [A/G] NM_001243137,NM_002605,NM_173454 PDE8A,PDE8A,PDE8A EXON Missense_R382Q,Missense_R454Q,Missense_R408Q exm1185230 15 85659236 [A/G] NM_001243137,NM_002605,NM_173454 PDE8A,PDE8A,PDE8A EXON Missense_N402S,Missense_N474S,Missense_N428S exm2274781 15 85659278 [T/C] NM_001243137,NM_002605,NM_173454 PDE8A,PDE8A,PDE8A EXON Missense_I416T,Missense_I488T,Missense_I442T exm1185237 15 85660909 [T/C] NM_001243137,NM_002605,NM_173454 PDE8A,PDE8A,PDE8A EXON Missense_F453L,Missense_F525L,Missense_F479L exm1185252 15 85664214 [A/G] NM_001243137,NM_002605,NM_173454 PDE8A,PDE8A,PDE8A EXON Missense_D569N,Missense_D641N,Missense_D595N exm1842624 15 85669541 [T/C] NM_001243137,NM_002605,NM_173454 PDE8A,PDE8A,PDE8A EXON Missense_P658L,Missense_P730L,Missense_P684L exm2264581 15 85680532 [A/C] NM_001243137,NM_002605,NM_173454 PDE8A,PDE8A,PDE8A Silent,Silent,Silent exm2223976 15 85681120 [T/C] NM_001243137,NM_002605,NM_173454 PDE8A,PDE8A,PDE8A EXON Missense_P754S,Missense_P826S,Missense_P780S exm-rs6496932 15 85825567 [A/C] exm-rs10520589 15 86010345 [A/C] NM_007200,NM_006738 AKAP13,AKAP13 Silent,Silent exm1185288 15 86064750 [A/G] NM_007200,NM_006738 AKAP13,AKAP13 EXON Missense_R42H,Missense_R42H exm1185291 15 86064807 [T/G] NM_007200,NM_006738 AKAP13,AKAP13 Silent,Silent exm1842639 15 86076886 [T/G] NM_007200,NM_006738 AKAP13,AKAP13 EXON Missense_A85S,Missense_A85S exm1185308 15 86077097 [A/G] NM_007200,NM_006738 AKAP13,AKAP13 EXON Missense_D155G,Missense_D155G exm2223978 15 86087014 [G/C] NM_007200,NM_006738 AKAP13,AKAP13 EXON Missense_R164G,Missense_R164G exm1185317 15 86087092 [T/C] NM_007200,NM_006738 AKAP13,AKAP13 EXON Missense_R190C,Missense_R190C exm1185318 15 86087095 [A/G] NM_007200,NM_006738 AKAP13,AKAP13 EXON Missense_G191R,Missense_G191R exm1185319 15 86087099 [T/C] NM_007200,NM_006738 AKAP13,AKAP13 EXON Missense_A192V,Missense_A192V exm2223979 15 86118435 [T/C] NM_007200,NM_006738 AKAP13,AKAP13 EXON Missense_H246Y,Missense_H246Y exm1185332 15 86118445 [T/A] NM_007200,NM_006738 AKAP13,AKAP13 EXON Missense_E249V,Missense_E249V exm1185337 15 86118516 [A/G] NM_007200,NM_006738 AKAP13,AKAP13 EXON Missense_T273A,Missense_T273A exm1185349 15 86122291 [T/C] NM_007200,NM_006738 AKAP13,AKAP13 EXON Missense_S331F,Missense_S331F exm1185351 15 86122299 [A/G] NM_007200,NM_006738 AKAP13,AKAP13 EXON Missense_E334K,Missense_E334K exm1185352 15 86122330 [A/G] NM_007200,NM_006738 AKAP13,AKAP13 EXON Missense_G344E,Missense_G344E exm1185355 15 86122398 [T/C] NM_007200,NM_006738 AKAP13,AKAP13 EXON Missense_R367C,Missense_R367C exm1185357 15 86122425 [A/G] NM_007200,NM_006738 AKAP13,AKAP13 EXON Missense_V376M,Missense_V376M exm1842659 15 86122438 [C/G] NM_007200,NM_006738 AKAP13,AKAP13 EXON Missense_G380A,Missense_G380A exm1185366 15 86122654 [T/C] NM_007200,NM_006738 AKAP13,AKAP13 EXON Missense_M452T,Missense_M452T exm1185370 15 86122760 [A/G] NM_007200,NM_006738 AKAP13,AKAP13 EXON Missense_M487I,Missense_M487I exm1185371 15 86122765 [T/C] NM_007200,NM_006738 AKAP13,AKAP13 EXON Missense_P489L,Missense_P489L exm1185372 15 86122779 [T/C] NM_007200,NM_006738 AKAP13,AKAP13 EXON Missense_W494R,Missense_W494R exm2252348 15 86122865 [T/C] NM_007200,NM_006738 AKAP13,AKAP13 EXON Synonymous_H522H,Synonymous_H522H exm1185378 15 86122865 [T/C] NM_007200,NM_006738 AKAP13,AKAP13 EXON Synonymous_H522H,Synonymous_H522H exm1185379 15 86122875 [A/C] NM_007200,NM_006738 AKAP13,AKAP13 EXON Missense_K526Q,Missense_K526Q exm2223982 15 86122879 [G/C] NM_007200,NM_006738 AKAP13,AKAP13 EXON Missense_P527R,Missense_P527R exm1185382 15 86122909 [T/C] NM_007200,NM_006738 AKAP13,AKAP13 EXON Missense_A537V,Missense_A537V exm1185386 15 86122960 [G/C] NM_007200,NM_006738 AKAP13,AKAP13 EXON Missense_A554G,Missense_A554G exm1185392 15 86123019 [T/C] NM_007200,NM_006738 AKAP13,AKAP13 EXON Missense_R574C,Missense_R574C exm2274782 15 86123049 [A/C] NM_007200,NM_006738 AKAP13,AKAP13 EXON Missense_Q584K,Missense_Q584K exm1185394 15 86123077 [G/C] NM_007200,NM_006738 AKAP13,AKAP13 EXON Missense_A593G,Missense_A593G exm1185395 15 86123085 [A/G] NM_007200,NM_006738 AKAP13,AKAP13 EXON Missense_K596E,Missense_K596E exm1185404 15 86123170 [T/G] NM_007200,NM_006738 AKAP13,AKAP13 EXON Missense_G624V,Missense_G624V exm1185414 15 86123250 [T/C] NM_007200,NM_006738 AKAP13,AKAP13 EXON Missense_P651S,Missense_P651S exm1185421 15 86123364 [A/G] NM_007200,NM_006738 AKAP13,AKAP13 EXON Missense_E689K,Missense_E689K exm1842669 15 86123436 [A/C] NM_007200,NM_006738 AKAP13,AKAP13 EXON Missense_Q713K,Missense_Q713K exm1185428 15 86123457 [T/G] NM_007200,NM_006738 AKAP13,AKAP13 EXON Missense_D720Y,Missense_D720Y exm1185430 15 86123489 [T/A] NM_007200,NM_006738 AKAP13,AKAP13 EXON Missense_D730E,Missense_D730E exm1185433 15 86123569 [A/G] NM_007200,NM_006738 AKAP13,AKAP13 EXON Missense_E757G,Missense_E757G exm1185448 15 86123809 [T/C] NM_007200,NM_006738 AKAP13,AKAP13 EXON Missense_T837M,Missense_T837M exm1185450 15 86123833 [T/C] NM_007200,NM_006738 AKAP13,AKAP13 EXON Missense_V845A,Missense_V845A exm1185451 15 86123851 [T/C] NM_007200,NM_006738 AKAP13,AKAP13 EXON Missense_S851F,Missense_S851F exm1842678 15 86123932 [T/C] NM_007200,NM_006738 AKAP13,AKAP13 EXON Missense_P878L,Missense_P878L exm1185459 15 86123955 [A/G] NM_007200,NM_006738 AKAP13,AKAP13 EXON Missense_I886V,Missense_I886V exm1185460 15 86123988 [A/G] NM_007200,NM_006738 AKAP13,AKAP13 EXON Missense_V897M,Missense_V897M exm1185462 15 86124061 [C/G] NM_007200,NM_006738 AKAP13,AKAP13 EXON Missense_S921C,Missense_S921C exm1185463 15 86124103 [T/C] NM_007200,NM_006738 AKAP13,AKAP13 EXON Missense_S935F,Missense_S935F exm1185464 15 86124129 [T/C] NM_007200,NM_006738 AKAP13,AKAP13 EXON Missense_S944P,Missense_S944P exm1185472 15 86124279 [A/G] NM_007200,NM_006738 AKAP13,AKAP13 EXON Missense_E994K,Missense_E994K exm1185473 15 86124303 [A/G] NM_007200,NM_006738 AKAP13,AKAP13 EXON Missense_A1002T,Missense_A1002T exm1185475 15 86124339 [T/G] NM_007200,NM_006738 AKAP13,AKAP13 EXON Missense_A1014S,Missense_A1014S exm1185480 15 86124483 [G/C] NM_007200,NM_006738 AKAP13,AKAP13 EXON Missense_P1062A,Missense_P1062A exm1185482 15 86124499 [T/G] NM_007200,NM_006738 AKAP13,AKAP13 EXON Missense_V1067G,Missense_V1067G exm1185487 15 86124555 [A/G] NM_007200,NM_006738 AKAP13,AKAP13 EXON Missense_D1086N,Missense_D1086N exm1185491 15 86124599 [A/G] NM_007200,NM_006738 AKAP13,AKAP13 EXON Missense_M1100I,Missense_M1100I exm1185493 15 86124616 [A/G] NM_007200,NM_006738 AKAP13,AKAP13 EXON Missense_E1106G,Missense_E1106G exm1185499 15 86124711 [T/G] NM_007200,NM_006738 AKAP13,AKAP13 EXON Missense_D1138Y,Missense_D1138Y exm1185500 15 86124712 [A/G] NM_007200,NM_006738 AKAP13,AKAP13 EXON Missense_D1138G,Missense_D1138G exm1185511 15 86124819 [A/G] NM_007200,NM_006738 AKAP13,AKAP13 EXON Missense_A1174T,Missense_A1174T exm1185517 15 86124925 [T/C] NM_007200,NM_006738 AKAP13,AKAP13 EXON Missense_P1209L,Missense_P1209L exm1185518 15 86124946 [T/C] NM_007200,NM_006738 AKAP13,AKAP13 EXON Missense_M1216T,Missense_M1216T exm1185531 15 86125126 [A/G] NM_007200,NM_006738 AKAP13,AKAP13 EXON Missense_C1276Y,Missense_C1276Y exm1185538 15 86125236 [A/G] NM_007200,NM_006738 AKAP13,AKAP13 EXON Missense_S1313G,Missense_S1313G exm1185559 15 86182662 [A/G] NM_007200,NM_006738,NM_001270546 AKAP13,AKAP13,AKAP13 EXON Missense_A1407T,Missense_A1407T,Missense_A47T exm1185577 15 86198846 [A/G] NM_007200,NM_006738,NM_001270546 AKAP13,AKAP13,AKAP13 EXON Missense_S1525G,Missense_S1525G,Missense_S165G exm1185578 15 86198852 [T/C] NM_007200,NM_006738,NM_001270546 AKAP13,AKAP13,AKAP13 EXON Missense_P1527S,Missense_P1527S,Missense_P167S exm1185583 15 86198893 [T/G] NM_007200,NM_006738,NM_001270546 AKAP13,AKAP13,AKAP13 EXON Missense_S1540R,Missense_S1540R,Missense_S180R exm1185588 15 86198996 [A/G] NM_007200,NM_006738,NM_001270546 AKAP13,AKAP13,AKAP13 EXON Missense_D1575N,Missense_D1575N,Missense_D215N exm1185590 15 86199018 [A/G] NM_007200,NM_006738,NM_001270546 AKAP13,AKAP13,AKAP13 EXON Missense_S1582N,Missense_S1582N,Missense_S222N exm1185596 15 86205618 [A/G] NM_007200,NM_006738,NM_001270546 AKAP13,AKAP13,AKAP13 Silent,Silent,Silent exm1185606 15 86207857 [A/T] NM_007200,NM_006738,NM_001270546 AKAP13,AKAP13,AKAP13 EXON Missense_E1621D,Missense_E1625D,Missense_E243D exm1185607 15 86207858 [A/G] NM_007200,NM_006738,NM_001270546 AKAP13,AKAP13,AKAP13 EXON Missense_V1622I,Missense_V1626I,Missense_V244I exm1185613 15 86207925 [T/C] NM_007200,NM_006738,NM_001270546 AKAP13,AKAP13,AKAP13 EXON Missense_V1644A,Missense_V1648A,Missense_V266A exm1185619 15 86213040 [A/G] NM_007200,NM_006738,NM_001270546 AKAP13,AKAP13,AKAP13 EXON Missense_I1694V,Missense_I1698V,Missense_I316V exm1185620 15 86225419 [A/G] NM_007200,NM_006738,NM_001270546 AKAP13,AKAP13,AKAP13 EXON Missense_N1711S,Missense_N1715S,Missense_N333S exm1185636 15 86253813 [T/C] NM_007200,NM_006738,NM_001270546 AKAP13,AKAP13,AKAP13 EXON Missense_P1846S,Missense_P1850S,Missense_P467S exm1185647 15 86259093 [T/A] NM_007200,NM_006738,NM_001270546 AKAP13,AKAP13,AKAP13 EXON Missense_N1892Y,Missense_N1896Y,Missense_N513Y exm1185661 15 86262432 [A/G] NM_007200,NM_006738,NM_001270546 AKAP13,AKAP13,AKAP13 EXON Missense_D2043N,Missense_D2047N,Missense_D664N exm1185667 15 86266306 [A/G] NM_007200,NM_006738,NM_001270546 AKAP13,AKAP13,AKAP13 EXON Missense_N2167S,Missense_N2171S,Missense_N788S exm1185670 15 86266491 [T/C] NM_007200,NM_006738,NM_001270546 AKAP13,AKAP13,AKAP13 EXON Missense_R2229W,Missense_R2233W,Missense_R850W exm1185689 15 86273745 [A/C] NM_007200,NM_006738,NM_001270546 AKAP13,AKAP13,AKAP13 EXON Missense_E2363D,Missense_E2367D,Missense_E984D exm1185691 15 86273754 [A/C] NM_007200,NM_006738,NM_001270546 AKAP13,AKAP13,AKAP13 EXON Missense_H2366Q,Missense_H2370Q,Missense_H987Q exm1185692 15 86273756 [A/G] NM_007200,NM_006738,NM_001270546 AKAP13,AKAP13,AKAP13 EXON Missense_Q2367R,Missense_Q2371R,Missense_Q988R exm1185696 15 86273831 [G/C] NM_007200,NM_006738,NM_001270546 AKAP13,AKAP13,AKAP13 EXON Missense_P2392R,Missense_P2396R,Missense_P1013R exm1185697 15 86273886 [A/C] NM_007200,NM_006738,NM_001270546 AKAP13,AKAP13,AKAP13 EXON Missense_N2410K,Missense_N2414K,Missense_N1031K exm1185703 15 86278309 [A/G] NM_007200,NM_006738,NM_001270546 AKAP13,AKAP13,AKAP13 EXON Missense_G2457S,Missense_G2461S,Missense_G1078S exm1185705 15 86278319 [T/C] NM_007200,NM_006738,NM_001270546 AKAP13,AKAP13,AKAP13 EXON Missense_S2460F,Missense_S2464F,Missense_S1081F exm2267799 15 86278479 [A/G] NM_007200,NM_006738,NM_001270546 AKAP13,AKAP13,AKAP13 Silent,Silent,Silent exm1185720 15 86283483 [A/G] NM_007200,NM_006738,NM_001270546 AKAP13,AKAP13,AKAP13 EXON Missense_E2530K,Missense_E2534K,Missense_E1151K exm1185743 15 86284658 [A/G] NM_007200,NM_006738,NM_001270546 AKAP13,AKAP13,AKAP13 EXON Missense_E2664K,Missense_E2668K,Missense_E1285K exm1185745 15 86284700 [T/C] NM_007200,NM_006738,NM_001270546 AKAP13,AKAP13,AKAP13 EXON Missense_R2678W,Missense_R2682W,Missense_R1299W exm1185747 15 86284712 [T/C] NM_007200,NM_006738,NM_001270546 AKAP13,AKAP13,AKAP13 EXON Missense_R2682W,Missense_R2686W,Missense_R1303W exm1185752 15 86286760 [T/C] NM_007200,NM_006738,NM_001270546 AKAP13,AKAP13,AKAP13 EXON Missense_S2699L,Missense_S2703L,Missense_S1320L exm1185753 15 86286781 [A/G] NM_007200,NM_006738,NM_001270546 AKAP13,AKAP13,AKAP13 EXON Missense_E2706G,Missense_E2710G,Missense_E1327G exm1185755 15 86286787 [T/C] NM_007200,NM_006738,NM_001270546 AKAP13,AKAP13,AKAP13 EXON Missense_P2708L,Missense_P2712L,Missense_P1329L exm1185760 15 86286870 [T/C] NM_007200,NM_006738,NM_001270546 AKAP13,AKAP13,AKAP13 EXON Missense_R2736W,Missense_R2740W,Missense_R1357W exm1185762 15 86286936 [A/G] NM_007200,NM_006738,NM_001270546 AKAP13,AKAP13,AKAP13 EXON Missense_E2758K,Missense_E2762K,Missense_E1379K exm1185777 15 86287867 [A/G] NM_007200,NM_006738,NM_001270546 AKAP13,AKAP13,AKAP13 EXON Missense_A2801T,Missense_A2805T,Missense_A1422T exm1185783 15 86311276 [A/G] NM_022480 KLHL25 EXON Missense_A589V exm1185796 15 86311459 [A/C] NM_022480 KLHL25 EXON Missense_R528L exm1185807 15 86311639 [A/G] NM_022480 KLHL25 EXON Missense_S468L exm1185810 15 86311675 [T/C] NM_022480 KLHL25 EXON Missense_R456Q exm1185819 15 86311791 [A/G] NM_022480 KLHL25 EXON Synonymous_Y417Y exm1185845 15 86312198 [T/C] NM_022480 KLHL25 EXON Missense_V282M exm1185854 15 86312294 [T/C] NM_022480 KLHL25 EXON Missense_V250I exm1185857 15 86312342 [A/G] NM_022480 KLHL25 EXON Missense_R234C exm1185864 15 86312429 [T/C] NM_022480 KLHL25 EXON Missense_E205K exm1185871 15 86312509 [A/G] NM_022480 KLHL25 EXON Missense_T178M exm1185877 15 86312606 [A/G] NM_022480 KLHL25 EXON Missense_P146S exm1842793 15 86312617 [T/C] NM_022480 KLHL25 EXON Missense_K142R exm1185887 15 86312684 [G/C] NM_022480 KLHL25 EXON Missense_L120V exm1185892 15 86312714 [T/C] NM_022480 KLHL25 EXON Missense_I110V exm1185899 15 86312804 [A/G] NM_022480 KLHL25 EXON Missense_R80W exm1185901 15 86312816 [T/C] NM_022480 KLHL25 EXON Missense_S76G exm1185916 15 86312998 [A/G] NM_022480 KLHL25 EXON Missense_T15M exm-rs7176093 15 86369430 [A/G] exm2260487 15 86402162 [A/G] exm1185930 15 86687049 [T/C] NM_152336 AGBL1 EXON Missense_R33W exm1185933 15 86697675 [T/C] NM_152336 AGBL1 EXON Missense_R47W exm1185939 15 86702235 [T/C] NM_152336 AGBL1 EXON Nonsense_R110X exm1185941 15 86702241 [T/C] NM_152336 AGBL1 EXON Missense_R112C exm2252350 15 86707722 [T/G] NM_152336 AGBL1 Silent exm1185956 15 86790997 [A/G] NM_152336 AGBL1 EXON Missense_V162M exm1185957 15 86791006 [T/C] NM_152336 AGBL1 EXON Nonsense_R165X exm1185962 15 86791080 [C/G] NM_152336 AGBL1 EXON Missense_Q189H exm1185963 15 86791109 [A/T] NM_152336 AGBL1 EXON Missense_Q199L exm1185969 15 86800154 [T/C] NM_152336 AGBL1 EXON Missense_P223L exm1185970 15 86800157 [T/C] NM_152336 AGBL1 EXON Missense_T224M exm1185971 15 86800165 [G/C] NM_152336 AGBL1 EXON Missense_L227V exm1185976 15 86800251 [T/G] NM_152336 AGBL1 Silent exm1185980 15 86801261 [A/G] NM_152336 AGBL1 EXON Missense_E277G exm1185989 15 86807504 [C/G] NM_152336 AGBL1 EXON Missense_L322V exm1186001 15 86807722 [A/C] NM_152336 AGBL1 EXON Missense_Q394H exm1186005 15 86807754 [A/C] NM_152336 AGBL1 EXON Missense_S405Y exm1186008 15 86807790 [T/C] NM_152336 AGBL1 EXON Missense_P417L exm1186011 15 86807843 [T/C] NM_152336 AGBL1 EXON Missense_S435P exm1186014 15 86807916 [A/G] NM_152336 AGBL1 EXON Missense_R459H exm1186015 15 86807930 [A/G] NM_152336 AGBL1 EXON Missense_D464N exm1186017 15 86807970 [G/C] NM_152336 AGBL1 EXON Missense_S477C exm1186020 15 86807993 [T/G] NM_152336 AGBL1 EXON Missense_A485S exm1186031 15 86810300 [C/G] NM_152336 AGBL1 EXON Missense_V565L exm1186036 15 86813160 [A/G] NM_152336 AGBL1 EXON Missense_D571N exm1186039 15 86813229 [A/G] NM_152336 AGBL1 EXON Missense_M594V exm1186049 15 86822926 [A/G] NM_152336 AGBL1 EXON Missense_Y665C exm1186058 15 86838634 [A/G] NM_152336 AGBL1 EXON Missense_Q744R exm-rs1353576 15 86892638 [A/G] NM_152336 AGBL1 Silent exm2260488 15 86940622 [T/C] NM_152336 AGBL1 EXON Synonymous_T754T exm1186066 15 86940644 [A/G] NM_152336 AGBL1 EXON Missense_S762G exm1186067 15 86940645 [C/G] NM_152336 AGBL1 EXON Missense_S762T exm1186068 15 86940657 [T/G] NM_152336 AGBL1 EXON Missense_W766L exm1186070 15 86940679 [T/G] NM_152336 AGBL1 EXON Missense_E773D exm1186073 15 86940709 [T/G] NM_152336 AGBL1 EXON Missense_R783S exm-rs16977195 15 86984240 [A/G] NM_152336 AGBL1 Silent exm2272275 15 87058059 [T/C] NM_152336 AGBL1 Silent exm1186080 15 87066168 [A/G] NM_152336 AGBL1 EXON Missense_V849M exm1186095 15 87097700 [G/C] NM_152336 AGBL1 EXON Missense_E930Q exm1186100 15 87099481 [A/G] NM_152336 AGBL1 EXON Missense_K962E exm1186101 15 87099508 [A/G] NM_152336 AGBL1 EXON Missense_G971S exm1186106 15 87217553 [G/C] NM_152336 AGBL1 EXON Missense_C990S exm1186110 15 87217613 [A/G] NM_152336 AGBL1 EXON Missense_Q1010R exm1186114 15 87217666 [T/C] NM_152336 AGBL1 EXON Nonsense_R1028X exm1186118 15 87531266 [G/C] NM_152336 AGBL1 EXON Missense_H1044Q exm1186121 15 87531283 [A/G] NM_152336 AGBL1 EXON Missense_N1050S exm2272324 15 87675247 [T/C] exm-rs11636768 15 87695511 [A/G] exm2267800 15 87755594 [A/G] exm2272276 15 88385150 [T/C] exm1186142 15 88472622 [A/G] NM_001012338,NM_002530,NM_001243101 NTRK3,NTRK3,NTRK3 EXON Missense_R645C,Missense_R645C,Missense_R637C exm1186164 15 88522610 [T/C] NM_001012338,NM_002530,NM_001243101,NM_001007156 NTRK3,NTRK3,NTRK3,NTRK3 EXON Silent,Silent,Silent,Missense_N602S exm2252355 15 88576170 [T/C] NM_001012338,NM_002530,NM_001243101,NM_001007156 NTRK3,NTRK3,NTRK3,NTRK3 EXON Synonymous_V501V,Synonymous_V501V,Synonymous_V493V,Synonymous_V501V exm1186208 15 88678541 [A/G] NM_001012338,NM_002530,NM_001243101,NM_001007156 NTRK3,NTRK3,NTRK3,NTRK3 EXON Missense_T332M,Missense_T332M,Missense_T332M,Missense_T332M exm1186213 15 88678619 [T/C] NM_001012338,NM_002530,NM_001243101,NM_001007156 NTRK3,NTRK3,NTRK3,NTRK3 EXON Missense_R306H,Missense_R306H,Missense_R306H,Missense_R306H exm2252356 15 88680654 [A/G] NM_001012338,NM_002530,NM_001243101,NM_001007156 NTRK3,NTRK3,NTRK3,NTRK3 EXON Synonymous_R201R,Synonymous_R201R,Synonymous_R201R,Synonymous_R201R exm1186228 15 88680655 [T/C] NM_001012338,NM_002530,NM_001243101,NM_001007156 NTRK3,NTRK3,NTRK3,NTRK3 EXON Missense_R201H,Missense_R201H,Missense_R201H,Missense_R201H exm2252357 15 88688097 [A/G] NM_001012338,NM_002530,NM_001243101,NM_001007156 NTRK3,NTRK3,NTRK3,NTRK3 Silent,Silent,Silent,Silent exm1186240 15 88690618 [A/G] NM_001012338,NM_002530,NM_001243101,NM_001007156 NTRK3,NTRK3,NTRK3,NTRK3 EXON Missense_R138W,Missense_R138W,Missense_R138W,Missense_R138W exm2264582 15 88737834 [A/C] NM_001012338,NM_002530,NM_001243101,NM_001007156 NTRK3,NTRK3,NTRK3,NTRK3 Silent,Silent,Silent,Silent exm1186256 15 88799324 [A/C] NM_001012338,NM_002530,NM_001243101,NM_001007156,NR_038229 NTRK3,NTRK3,NTRK3,NTRK3,NTRK3-AS1 EXON Missense_V21F,Missense_V21F,Missense_V21F,Missense_V21F,Silent exm1186258 15 89002870 [T/C] NM_022163 MRPL46 EXON Missense_V272I exm1186264 15 89003020 [A/G] NM_022163 MRPL46 EXON Missense_R222W exm1186282 15 89008917 [A/G] NM_022163 MRPL46 EXON Missense_H106Y exm1186294 15 89010407 [T/C] NM_022163 MRPL46 EXON Missense_E68K exm1186299 15 89010472 [A/C] NM_022163 MRPL46 EXON Missense_R46L exm1186300 15 89010478 [A/G] NM_022163 MRPL46 EXON Missense_P44L exm1186302 15 89010502 [A/G] NM_022163 MRPL46 EXON Missense_A36V exm1186303 15 89010505 [C/G] NM_022163 MRPL46 EXON Missense_A35G exm1842931 15 89010955 [A/G] NM_176805,NM_022839 MRPS11,MRPS11 EXON Missense_A3T,Missense_A3T exm1186312 15 89010976 [T/C] NM_176805,NM_022839 MRPS11,MRPS11 EXON Missense_R10W,Missense_R10W exm1186316 15 89011140 [A/C] NM_176805,NM_022839 MRPS11,MRPS11 EXON Synonymous_R23R,Synonymous_R23R exm1186321 15 89011226 [G/C] NM_176805,NM_022839 MRPS11,MRPS11 EXON Missense_Q51H,Missense_Q51H exm1186334 15 89018411 [T/C] NM_176805,NM_022839 MRPS11,MRPS11 EXON Missense_R85W,Missense_R118W exm1186348 15 89021148 [A/G] NM_176805,NM_022839 MRPS11,MRPS11 EXON Missense_I142V,Missense_I175V exm1186354 15 89021200 [A/G] NM_176805,NM_022839 MRPS11,MRPS11 EXON Missense_R159Q,Missense_R192Q exm1186368 15 89060204 [T/C] NM_001144074,NR_026645,NM_017996 DET1,DET1,DET1 EXON Synonymous_R424R,Silent,Synonymous_R435R exm1186371 15 89070894 [T/G] NM_001144074,NR_026645,NM_017996 DET1,DET1,DET1 EXON Missense_H403N,Silent,Missense_H414N exm1186372 15 89070900 [T/C] NM_001144074,NR_026645,NM_017996 DET1,DET1,DET1 EXON Missense_T401A,Silent,Missense_T412A exm1186381 15 89070986 [A/G] NM_001144074,NR_026645,NM_017996 DET1,DET1,DET1 EXON Missense_T372M,Silent,Missense_T383M exm1186383 15 89073873 [T/C] NM_001144074,NR_026645,NM_017996 DET1,DET1,DET1 EXON Missense_R355Q,Silent,Missense_R366Q exm1186390 15 89074023 [T/C] NM_001144074,NR_026645,NM_017996 DET1,DET1,DET1 EXON Missense_R305H,Silent,Missense_R316H exm1186405 15 89074533 [A/G] NM_001144074,NR_026645,NM_017996 DET1,DET1,DET1 EXON Missense_A135V,Silent,Missense_A146V exm1186429 15 89074875 [T/C] NM_001144074,NR_026645,NM_017996 DET1,DET1,DET1 EXON Missense_R21H,Silent,Missense_R32H exm1186431 15 89074939 [T/C] NM_001144074,NR_026645,NM_017996 DET1,DET1,DET1 EXON Silent,Silent,Missense_I11V exm1186435 15 89079543 [G/C] NM_001144074,NR_026645,NM_017996 DET1,DET1,DET1 EXON Silent,Silent,Missense_R8T exm1842980 15 89079614 [T/C] NM_001144074,NR_026645,NM_017996 DET1,DET1,DET1 Silent,Silent,Silent exm2267848 15 89154966 [A/G] exm1186459 15 89169484 [T/C] NM_022767 AEN EXON Missense_P15L exm1186462 15 89169520 [A/G] NM_022767 AEN EXON Missense_R27Q exm1186472 15 89169703 [C/G] NM_022767 AEN EXON Missense_S88C exm1186474 15 89169738 [A/G] NM_022767 AEN EXON Missense_G100R exm1186475 15 89169769 [A/G] NM_022767 AEN EXON Missense_C110Y exm1186478 15 89169804 [T/C] NM_022767 AEN EXON Missense_P122S exm1186479 15 89169807 [T/C] NM_022767 AEN EXON Nonsense_R123X exm1186481 15 89169822 [A/G] NM_022767 AEN EXON Missense_E128K exm1186483 15 89169858 [A/G] NM_022767 AEN EXON Missense_N140D exm1186488 15 89169916 [A/G] NM_022767 AEN EXON Missense_R159H exm1186490 15 89169954 [C/G] NM_022767 AEN EXON Missense_V172L exm1186519 15 89173382 [T/C] NM_022767 AEN EXON Missense_R279C exm1186520 15 89173386 [C/G] NM_022767 AEN EXON Missense_S280T exm1186522 15 89173398 [A/G] NM_022767 AEN EXON Missense_C284Y exm2267802 15 89180778 [A/G] exm1186532 15 89182641 [T/G] NM_002201 ISG20 EXON Missense_V15G exm1843002 15 89182820 [G/C] NM_002201 ISG20 EXON Missense_L75V exm1186548 15 89195416 [A/G] NM_002201 ISG20 EXON Missense_M102V exm1186549 15 89195422 [A/G] NM_002201 ISG20 EXON Missense_G104S exm1186554 15 89195519 [A/G] NM_002201 ISG20 EXON Missense_R136H exm-rs8028537 15 89345947 [A/G] exm-rs8041863 15 89359689 [T/A] NM_001135,NM_013227 ACAN,ACAN Silent,Silent exm1186570 15 89379448 [T/C] NM_001135,NM_013227 ACAN,ACAN EXON Missense_L4S,Missense_L4S exm1186578 15 89382008 [A/C] NM_001135,NM_013227 ACAN,ACAN EXON Missense_T62N,Missense_T62N exm1186581 15 89382022 [A/G] NM_001135,NM_013227 ACAN,ACAN EXON Missense_A67T,Missense_A67T exm1186583 15 89382053 [A/G] NM_001135,NM_013227 ACAN,ACAN EXON Missense_R77H,Missense_R77H exm1186586 15 89382129 [A/C] NM_001135,NM_013227 ACAN,ACAN EXON Missense_D102E,Missense_D102E exm1186596 15 89383244 [T/C] NM_001135,NM_013227 ACAN,ACAN EXON Synonymous_G152G,Synonymous_G152G exm1186600 15 89383330 [A/T] NM_001135,NM_013227 ACAN,ACAN EXON Missense_I181N,Missense_I181N exm1186609 15 89385059 [A/G] NM_001135,NM_013227 ACAN,ACAN EXON Missense_E240K,Missense_E240K exm1186615 15 89386652 [A/G] NM_001135,NM_013227 ACAN,ACAN EXON Missense_R275Q,Missense_R275Q exm1843031 15 89386801 [A/G] NM_001135,NM_013227 ACAN,ACAN EXON Missense_V325M,Missense_V325M exm1186633 15 89388865 [A/G] NM_001135,NM_013227 ACAN,ACAN EXON Missense_R394Q,Missense_R394Q exm1186634 15 89388867 [A/G] NM_001135,NM_013227 ACAN,ACAN EXON Missense_G395S,Missense_G395S exm1186636 15 89388885 [A/G] NM_001135,NM_013227 ACAN,ACAN EXON Missense_V401I,Missense_V401I exm1186637 15 89388894 [A/G] NM_001135,NM_013227 ACAN,ACAN EXON Missense_I404V,Missense_I404V exm-rs16942341 15 89388905 [T/C] NM_001135,NM_013227 ACAN,ACAN EXON Synonymous_V407V,Synonymous_V407V exm1186657 15 89390507 [A/G] NM_001135,NM_013227 ACAN,ACAN EXON Missense_R488H,Missense_R488H exm1186658 15 89390513 [T/C] NM_001135,NM_013227 ACAN,ACAN EXON Missense_S490L,Missense_S490L exm2252360 15 89390520 [G/C] NM_001135,NM_013227 ACAN,ACAN EXON Synonymous_T492T,Synonymous_T492T exm2276401 15 89392689 [A/C] NM_001135,NM_013227 ACAN,ACAN EXON Missense_R585S,Missense_R585S exm2252361 15 89392775 [T/C] NM_001135,NM_013227 ACAN,ACAN EXON Synonymous_A613A,Synonymous_A613A exm1186686 15 89392786 [A/G] NM_001135,NM_013227 ACAN,ACAN EXON Missense_R617H,Missense_R617H exm1186690 15 89392818 [A/G] NM_001135,NM_013227 ACAN,ACAN EXON Missense_A628T,Missense_A628T exm1186696 15 89392884 [A/G] NM_001135,NM_013227 ACAN,ACAN EXON Missense_V650M,Missense_V650M exm1186701 15 89392939 [A/G] NM_001135,NM_013227 ACAN,ACAN EXON Missense_R668Q,Missense_R668Q exm1186708 15 89395120 [A/G] NM_001135,NM_013227 ACAN,ACAN EXON Missense_G708S,Missense_G708S exm1186711 15 89395201 [A/G] NM_001135,NM_013227 ACAN,ACAN EXON Missense_E735K,Missense_E735K exm1186712 15 89395209 [A/C] NM_001135,NM_013227 ACAN,ACAN EXON Missense_E737D,Missense_E737D exm2224007 15 89395259 [T/C] NM_001135,NM_013227 ACAN,ACAN EXON Missense_L754P,Missense_L754P exm1186727 15 89398299 [A/G] NM_001135,NM_013227 ACAN,ACAN EXON Missense_E828G,Missense_E828G exm1186735 15 89398364 [A/G] NM_001135,NM_013227 ACAN,ACAN EXON Missense_S850G,Missense_S850G exm1186736 15 89398407 [T/C] NM_001135,NM_013227 ACAN,ACAN EXON Missense_P864L,Missense_P864L exm1186739 15 89398553 [A/C] NM_001135,NM_013227 ACAN,ACAN EXON Missense_P913T,Missense_P913T exm1186742 15 89398605 [T/G] NM_001135,NM_013227 ACAN,ACAN EXON Missense_S930I,Missense_S930I exm1186744 15 89398631 [T/A] NM_001135,NM_013227 ACAN,ACAN EXON Missense_S939T,Missense_S939T exm1186801 15 89400339 [A/C] NM_001135,NM_013227 ACAN,ACAN EXON Missense_E1508A,Missense_E1508A exm1186802 15 89400341 [T/C] NM_001135,NM_013227 ACAN,ACAN EXON Missense_L1509F,Missense_L1509F exm1186813 15 89400680 [A/G] NM_001135,NM_013227 ACAN,ACAN EXON Missense_T1622A,Missense_T1622A exm1186820 15 89400963 [T/G] NM_001135,NM_013227 ACAN,ACAN EXON Missense_S1716I,Missense_S1716I exm1186821 15 89400981 [G/C] NM_001135,NM_013227 ACAN,ACAN EXON Missense_S1722C,Missense_S1722C exm1186825 15 89401109 [A/G] NM_001135,NM_013227 ACAN,ACAN EXON Missense_I1765V,Missense_I1765V exm1186826 15 89401134 [T/C] NM_001135,NM_013227 ACAN,ACAN EXON Missense_L1773P,Missense_L1773P exm1186828 15 89401184 [A/T] NM_001135,NM_013227 ACAN,ACAN EXON Missense_S1790T,Missense_S1790T exm1186841 15 89401362 [T/G] NM_001135,NM_013227 ACAN,ACAN EXON Missense_G1849V,Missense_G1849V exm1186842 15 89401379 [T/C] NM_001135,NM_013227 ACAN,ACAN EXON Missense_L1855F,Missense_L1855F exm1186843 15 89401383 [A/G] NM_001135,NM_013227 ACAN,ACAN EXON Missense_S1856N,Missense_S1856N exm1186851 15 89401512 [A/G] NM_001135,NM_013227 ACAN,ACAN EXON Missense_S1899N,Missense_S1899N exm1186853 15 89401572 [T/C] NM_001135,NM_013227 ACAN,ACAN EXON Missense_S1919L,Missense_S1919L exm1186861 15 89401737 [T/C] NM_001135,NM_013227 ACAN,ACAN EXON Missense_M1974T,Missense_M1974T exm1186862 15 89401747 [T/G] NM_001135,NM_013227 ACAN,ACAN EXON Missense_E1977D,Missense_E1977D exm1186866 15 89401814 [A/G] NM_001135,NM_013227 ACAN,ACAN EXON Missense_G2000S,Missense_G2000S exm1186869 15 89401829 [A/G] NM_001135,NM_013227 ACAN,ACAN EXON Missense_S2005G,Missense_S2005G exm1186877 15 89401940 [A/G] NM_001135,NM_013227 ACAN,ACAN EXON Missense_V2042M,Missense_V2042M exm1186878 15 89401958 [C/G] NM_001135,NM_013227 ACAN,ACAN EXON Missense_P2048A,Missense_P2048A exm1186882 15 89401989 [T/C] NM_001135,NM_013227 ACAN,ACAN EXON Missense_P2058L,Missense_P2058L exm1186884 15 89402051 [A/G] NM_001135,NM_013227 ACAN,ACAN EXON Missense_I2079V,Missense_I2079V exm1186885 15 89402079 [G/C] NM_001135,NM_013227 ACAN,ACAN EXON Missense_G2088A,Missense_G2088A exm1186889 15 89402176 [G/C] NM_001135,NM_013227 ACAN,ACAN EXON Missense_S2120R,Missense_S2120R exm1186898 15 89402322 [A/G] NM_001135,NM_013227 ACAN,ACAN EXON Missense_G2169E,Missense_G2169E exm1186908 15 89402504 [T/G] NM_001135,NM_013227 ACAN,ACAN EXON Missense_A2230S,Missense_A2230S exm1186928 15 89414703 [A/G] NM_001135,NM_013227 ACAN,ACAN EXON Missense_R2308H,Missense_R2346H exm1186931 15 89414712 [A/G] NM_001135,NM_013227 ACAN,ACAN EXON Missense_R2311Q,Missense_R2349Q exm1186932 15 89414741 [A/G] NM_001135,NM_013227 ACAN,ACAN EXON Missense_V2321I,Missense_V2359I exm1186936 15 89415247 [G/C] NM_001135,NM_013227 ACAN,ACAN EXON Missense_D2335E,Missense_D2373E exm1186941 15 89416199 [A/G] NM_001135,NM_013227 ACAN,ACAN EXON Missense_E2388K,Missense_E2426K exm2224009 15 89417076 [T/C] NM_001135,NM_013227 ACAN,ACAN EXON Silent,Missense_A2446V exm1186943 15 89417081 [A/G] NM_001135,NM_013227 ACAN,ACAN EXON Silent,Missense_G2448R exm1186945 15 89417117 [A/G] NM_001135,NM_013227 ACAN,ACAN EXON Silent,Missense_G2460R exm1186949 15 89417205 [A/G] NM_001135,NM_013227 ACAN,ACAN EXON Silent,Missense_R2489Q exm1186951 15 89417223 [A/G] NM_001135,NM_013227 ACAN,ACAN EXON Silent,Missense_H2495R exm1186952 15 89417238 [A/G] NM_001135,NM_013227 ACAN,ACAN EXON Silent,Missense_Q2500R exm1186953 15 89417255 [T/C] NM_001135,NM_013227 ACAN,ACAN EXON Silent,Missense_P2506S exm1186960 15 89421212 [A/G] NM_178232 HAPLN3 EXON Missense_R358C exm1843080 15 89421347 [T/C] NM_178232 HAPLN3 EXON Missense_A313T exm1186971 15 89421374 [T/C] NM_178232 HAPLN3 EXON Missense_K304E exm1186991 15 89422386 [T/C] NM_178232 HAPLN3 EXON Missense_R203Q exm1186999 15 89424608 [T/A] NM_178232 HAPLN3 EXON Missense_L158Q exm1187000 15 89424612 [T/C] NM_178232 HAPLN3 EXON Missense_G157S exm2252362 15 89424613 [A/G] NM_178232 HAPLN3 EXON Synonymous_S156S exm1187001 15 89424613 [A/G] NM_178232 HAPLN3 EXON Synonymous_S156S exm1187002 15 89424653 [T/C] NM_178232 HAPLN3 EXON Missense_R143H exm1187003 15 89424654 [A/G] NM_178232 HAPLN3 EXON Missense_R143C exm1187006 15 89424672 [A/G] NM_178232 HAPLN3 EXON Missense_R137W exm1187007 15 89424676 [T/A] NM_178232 HAPLN3 EXON Missense_D135E exm1187013 15 89424709 [C/G] NM_178232 HAPLN3 EXON Missense_D124E exm1187018 15 89424765 [T/C] NM_178232 HAPLN3 EXON Missense_G106R exm1187020 15 89424806 [A/G] NM_178232 HAPLN3 EXON Missense_S92L exm1187033 15 89424870 [T/G] NM_178232 HAPLN3 EXON Missense_R71S exm1187039 15 89424923 [A/G] NM_178232 HAPLN3 EXON Missense_T53I exm1187057 15 89442723 [T/A] NM_005928,NM_001114614 MFGE8,MFGE8 EXON Missense_N356I,Missense_N304I exm1187066 15 89444806 [C/G] NM_005928,NM_001114614 MFGE8,MFGE8 EXON Missense_S282R,Missense_S282R exm1187072 15 89444912 [A/G] NM_005928,NM_001114614 MFGE8,MFGE8 EXON Missense_T247M,Missense_T247M exm1187093 15 89449879 [T/C] NM_005928,NM_001114614 MFGE8,MFGE8 EXON Missense_H173R,Missense_H173R exm1187096 15 89449925 [A/C] NM_005928,NM_001114614 MFGE8,MFGE8 EXON Missense_F158V,Missense_F158V exm1187119 15 89450587 [T/G] NM_005928,NM_001114614 MFGE8,MFGE8 EXON Missense_L76M,Missense_L76M exm1187123 15 89453043 [A/G] NM_005928,NM_001114614 MFGE8,MFGE8 EXON Missense_A62V,Missense_A62V exm1187124 15 89453047 [A/T] NM_005928,NM_001114614 MFGE8,MFGE8 EXON Missense_Y61N,Missense_Y61N exm1187134 15 89453100 [T/C] NM_005928,NM_001114614 MFGE8,MFGE8 EXON Missense_Q43R,Missense_Q43R exm1187137 15 89453152 [T/C] NM_005928,NM_001114614 MFGE8,MFGE8 EXON Missense_I26V,Missense_I26V exm1187152 15 89659716 [A/G] NM_152924,NM_007011 ABHD2,ABHD2 EXON Missense_R53H,Missense_R53H exm2267803 15 89679515 [A/G] NM_152924,NM_007011 ABHD2,ABHD2 Silent,Silent exm2252364 15 89694986 [A/G] NM_152924,NM_007011 ABHD2,ABHD2 EXON Synonymous_S91S,Synonymous_S91S exm1187178 15 89731428 [A/G] NM_152924,NM_007011 ABHD2,ABHD2 EXON Missense_A274T,Missense_A274T exm1187179 15 89731449 [A/G] NM_152924,NM_007011 ABHD2,ABHD2 EXON Missense_K281E,Missense_K281E exm1187193 15 89736497 [T/C] NM_152924,NM_007011 ABHD2,ABHD2 EXON Missense_A343V,Missense_A343V exm1187199 15 89738475 [A/C] NM_152924,NM_007011 ABHD2,ABHD2 EXON Missense_M367L,Missense_M367L exm2252365 15 89738576 [T/C] NM_152924,NM_007011 ABHD2,ABHD2 EXON Synonymous_Y400Y,Synonymous_Y400Y exm2273531 15 89744476 [T/G] NM_152924,NM_007011 ABHD2,ABHD2 EXON Silent,Silent exm1187214 15 89753595 [A/G] NM_000326 RLBP1 EXON Missense_T292M exm1187215 15 89753653 [A/G] NM_000326 RLBP1 EXON Missense_L273F exm1843165 15 89753674 [T/C] NM_000326 RLBP1 EXON Missense_V266I exm1187224 15 89754981 [T/A] NM_000326 RLBP1 EXON Missense_M226K exm1187230 15 89755113 [A/C] NM_000326 RLBP1 EXON Missense_F182C exm1187233 15 89758328 [A/G] NM_000326 RLBP1 EXON Missense_I163T exm1187239 15 89760390 [A/G] NM_000326 RLBP1 EXON Missense_R103W exm1187247 15 89760470 [A/G] NM_000326 RLBP1 EXON Missense_S76L exm1843178 15 89760506 [T/C] NM_000326 RLBP1 EXON Missense_R64Q exm1187250 15 89760517 [A/C] NM_000326 RLBP1 EXON Missense_E60D exm1187254 15 89761812 [T/C] NM_000326 RLBP1 EXON Missense_R42H exm1187257 15 89761830 [A/G] NM_000326 RLBP1 EXON Missense_P36L exm1187260 15 89761908 [T/A] NM_000326 RLBP1 EXON Missense_M10K exm1187263 15 89762198 [T/G] NM_000326 RLBP1 EXON Missense_E3D exm1187273 15 89803944 [G/C] NM_018193,NM_001113378 FANCI,FANCI EXON Missense_G53A,Missense_G53A exm1187274 15 89803950 [T/C] NM_018193,NM_001113378 FANCI,FANCI EXON Missense_P55L,Missense_P55L exm1187282 15 89804043 [T/C] NM_018193,NM_001113378 FANCI,FANCI EXON Missense_A86V,Missense_A86V exm1187283 15 89804072 [A/G] NM_018193,NM_001113378 FANCI,FANCI EXON Missense_E96K,Missense_E96K exm1187294 15 89805073 [A/G] NM_018193,NM_001113378 FANCI,FANCI EXON Missense_C156Y,Missense_C156Y exm2224016 15 89807138 [C/G] NM_018193,NM_001113378 FANCI,FANCI EXON Missense_V184L,Missense_V184L exm1187308 15 89811698 [T/C] NM_018193,NM_001113378 FANCI,FANCI EXON Missense_I275T,Missense_I275T exm1187310 15 89811742 [A/G] NM_018193,NM_001113378 FANCI,FANCI EXON Missense_V290M,Missense_V290M exm2275246 15 89817534 [A/G] NM_018193,NM_001113378 FANCI,FANCI EXON Missense_S371G,Missense_S371G exm1187325 15 89819943 [A/G] NM_018193,NM_001113378 FANCI,FANCI EXON Missense_V372I,Missense_V372I exm1187330 15 89820040 [T/C] NM_018193,NM_001113378 FANCI,FANCI EXON Missense_I404T,Missense_I404T exm1187340 15 89824418 [A/G] NM_018193,NM_001113378 FANCI,FANCI EXON Missense_V467I,Missense_V467I exm1187342 15 89824431 [G/C] NM_018193,NM_001113378 FANCI,FANCI EXON Missense_P471R,Missense_P471R exm1187348 15 89825056 [A/G] NM_018193,NM_001113378 FANCI,FANCI EXON Missense_M525V,Missense_M525V exm1187362 15 89828387 [A/G] NM_018193,NM_001113378 FANCI,FANCI EXON Missense_I587V,Missense_I587V exm1187365 15 89828429 [A/G] NM_018193,NM_001113378 FANCI,FANCI EXON Missense_V601I,Missense_V601I exm1187367 15 89828438 [A/G] NM_018193,NM_001113378 FANCI,FANCI EXON Missense_M604V,Missense_M604V exm1187368 15 89828441 [T/C] NM_018193,NM_001113378 FANCI,FANCI EXON Missense_L605F,Missense_L605F exm1187370 15 89833478 [A/T] NM_018193,NM_001113378 FANCI,FANCI EXON Missense_L619Q,Missense_L619Q exm1843233 15 89834846 [A/C] NM_018193,NM_001113378 FANCI,FANCI EXON Missense_L631F,Missense_L631F exm1187374 15 89834853 [T/A] NM_018193,NM_001113378 FANCI,FANCI EXON Missense_F634I,Missense_F634I exm1187378 15 89834916 [A/G] NM_018193,NM_001113378 FANCI,FANCI EXON Missense_G655R,Missense_G655R exm1187380 15 89835937 [A/G] NM_018193,NM_001113378 FANCI,FANCI EXON Missense_I671V,Missense_I671V exm1187383 15 89835982 [A/C] NM_018193,NM_001113378 FANCI,FANCI EXON Missense_Q686K,Missense_Q686K exm1187384 15 89835997 [A/G] NM_018193,NM_001113378 FANCI,FANCI EXON Missense_E691K,Missense_E691K exm1187389 15 89837098 [A/G] NM_018193,NM_001113378 FANCI,FANCI EXON Missense_M776V,Missense_M776V exm1187396 15 89837219 [G/C] NM_018193,NM_001113378 FANCI,FANCI EXON Missense_A816G,Missense_A816G exm1187401 15 89838293 [A/C] NM_018193,NM_001113378 FANCI,FANCI EXON Silent,Missense_E868D exm1187402 15 89838318 [T/A] NM_018193,NM_001113378 FANCI,FANCI EXON Silent,Missense_I877L exm1187409 15 89843162 [A/G] NM_018193,NM_001113378 FANCI,FANCI EXON Missense_Y863C,Missense_Y923C exm1187412 15 89843544 [T/G] NM_018193,NM_001113378 FANCI,FANCI EXON Missense_K879N,Missense_K939N exm1187415 15 89843559 [A/C] NM_018193,NM_001113378 FANCI,FANCI EXON Missense_R884S,Missense_R944S exm1187416 15 89843560 [G/C] NM_018193,NM_001113378 FANCI,FANCI EXON Missense_E885Q,Missense_E945Q exm1187425 15 89844627 [T/C] NM_018193,NM_001113378 FANCI,FANCI EXON Missense_T927M,Missense_T987M exm1187434 15 89847143 [T/C] NM_018193,NM_001113378 FANCI,FANCI EXON Missense_R959W,Missense_R1019W exm1187442 15 89848573 [T/A] NM_018193,NM_001113378 FANCI,FANCI EXON Missense_D1003V,Missense_D1063V exm1843257 15 89848621 [T/C] NM_018193,NM_001113378 FANCI,FANCI EXON Missense_T1019M,Missense_T1079M exm1187455 15 89849307 [T/C] NM_018193,NM_001113378 FANCI,FANCI EXON Missense_T1080I,Missense_T1140I exm1187456 15 89849354 [C/G] NM_018193,NM_001113378 FANCI,FANCI EXON Missense_G1096R,Missense_G1156R exm1187459 15 89849387 [T/G] NM_018193,NM_001113378 FANCI,FANCI EXON Missense_C1107G,Missense_C1167G exm1187484 15 89858561 [A/G] NM_018193,NM_001113378 FANCI,FANCI EXON Missense_I1229V,Missense_I1289V exm1187495 15 89859650 [A/G] NM_018193,NM_001113378,NM_001126131,NM_002693 FANCI,FANCI,POLG,POLG EXON Missense_G1256E,Missense_G1316E,Silent,Silent exm1187499 15 89859994 [A/C] NM_018193,NM_001113378,NM_001126131,NM_002693 FANCI,FANCI,POLG,POLG EXON Silent,Silent,Missense_Q1236H,Missense_Q1236H exm1187522 15 89861812 [A/G] NM_001126131,NM_002693 POLG,POLG EXON Missense_R1148C,Missense_R1148C exm1187523 15 89861818 [A/G] NM_001126131,NM_002693 POLG,POLG EXON Missense_R1146C,Missense_R1146C exm1187524 15 89861826 [T/C] NM_001126131,NM_002693 POLG,POLG EXON Missense_E1143G,Missense_E1143G exm1187531 15 89862193 [T/C] NM_001126131,NM_002693 POLG,POLG EXON Missense_R1081Q,Missense_R1081Q exm1187539 15 89862304 [A/G] NM_001126131,NM_002693 POLG,POLG EXON Missense_V1044A,Missense_V1044A exm1187551 15 89862549 [A/C] NM_001126131,NM_002693 POLG,POLG EXON Missense_V1005G,Missense_V1005G exm1187555 15 89862571 [A/C] NM_001126131,NM_002693 POLG,POLG EXON Missense_S998A,Missense_S998A exm1187563 15 89864081 [A/C] NM_001126131,NM_002693 POLG,POLG EXON Missense_L966R,Missense_L966R exm1843291 15 89864088 [A/G] NM_001126131,NM_002693 POLG,POLG EXON Missense_R964C,Missense_R964C exm1187568 15 89864238 [T/G] NM_001126131,NM_002693 POLG,POLG EXON Missense_T914P,Missense_T914P exm1187578 15 89865011 [A/G] NM_001126131,NM_002693 POLG,POLG EXON Missense_R852C,Missense_R852C exm1187579 15 89865023 [T/C] NM_001126131,NM_002693 POLG,POLG EXON Missense_G848S,Missense_G848S exm1187583 15 89865073 [T/C] NM_001126131,NM_002693 POLG,POLG EXON Missense_Y831C,Missense_Y831C exm1187591 15 89866030 [T/C] NM_001126131,NM_002693 POLG,POLG EXON Missense_R790H,Missense_R790H exm1187592 15 89866045 [T/C] NM_001126131,NM_002693 POLG,POLG EXON Missense_G785D,Missense_G785D exm1187598 15 89866654 [A/G] NM_001126131,NM_002693 POLG,POLG EXON Missense_F749S,Missense_F749S exm1187599 15 89866657 [G/C] NM_001126131,NM_002693 POLG,POLG EXON Missense_W748S,Missense_W748S exm1187601 15 89866691 [G/C] NM_001126131,NM_002693 POLG,POLG EXON Missense_G737R,Missense_G737R exm1187602 15 89866693 [T/C] NM_001126131,NM_002693 POLG,POLG EXON Missense_N736S,Missense_N736S exm1187606 15 89866735 [T/C] NM_001126131,NM_002693 POLG,POLG EXON Missense_R722H,Missense_R722H exm1843311 15 89867357 [T/C] NM_001126131,NM_002693 POLG,POLG EXON Missense_N684S,Missense_N684S exm1187628 15 89868697 [A/C] NM_001126131,NM_002693 POLG,POLG EXON Missense_V645L,Missense_V645L exm1843314 15 89868793 [A/G] NM_001126131,NM_002693 POLG,POLG EXON Missense_H613Y,Missense_H613Y exm1187637 15 89868870 [A/G] NM_001126131,NM_002693 POLG,POLG EXON Missense_P587L,Missense_P587L exm1187644 15 89869919 [A/G] NM_001126131,NM_002693 POLG,POLG EXON Missense_R546C,Missense_R546C exm1187651 15 89870178 [A/C] NM_001126131,NM_002693 POLG,POLG EXON Missense_G517V,Missense_G517V exm1187657 15 89870429 [T/C] NM_001126131,NM_002693 POLG,POLG EXON Missense_N468D,Missense_N468D exm1187658 15 89870432 [T/C] NM_001126131,NM_002693 POLG,POLG EXON Missense_A467T,Missense_A467T exm1187673 15 89871763 [C/G] NM_001126131,NM_002693 POLG,POLG EXON Missense_L392V,Missense_L392V exm1187674 15 89871930 [A/G] NM_001126131,NM_002693 POLG,POLG EXON Missense_R386C,Missense_R386C exm1187685 15 89872227 [A/G] NM_001126131,NM_002693 POLG,POLG EXON Missense_P324S,Missense_P324S exm1187694 15 89873337 [A/T] NM_001126131,NM_002693 POLG,POLG EXON Missense_H277L,Missense_H277L exm1187695 15 89873364 [C/G] NM_001126131,NM_002693 POLG,POLG EXON Missense_G268A,Missense_G268A exm1187701 15 89873415 [A/G] NM_001126131,NM_002693 POLG,POLG EXON Missense_T251I,Missense_T251I exm1187703 15 89873481 [A/C] NM_001126131,NM_002693 POLG,POLG EXON Missense_V229G,Missense_V229G exm1187704 15 89873489 [G/C] NM_001126131,NM_002693 POLG,POLG EXON Missense_Q226H,Missense_Q226H exm1187706 15 89876408 [T/C] NM_001126131,NM_002693 POLG,POLG EXON Missense_R193Q,Missense_R193Q exm1187710 15 89876578 [G/C] NM_001126131,NM_002693 POLG,POLG EXON Missense_D136E,Missense_D136E exm-rs4932217 15 89902032 [A/C] exm2264583 15 90002413 [A/C] exm1187743 15 90016059 [A/C] NM_016321 RHCG EXON Missense_E449D exm1187746 15 90020044 [A/C] NM_016321 RHCG EXON Nonsense_L418X exm1187751 15 90020391 [T/C] NM_016321 RHCG EXON Missense_A387T exm1187755 15 90020800 [T/C] NM_016321 RHCG EXON Missense_V354M exm1187757 15 90020806 [T/C] NM_016321 RHCG EXON Missense_G352S exm1187761 15 90020848 [A/C] NM_016321 RHCG EXON Missense_C338G exm1187769 15 90021078 [A/G] NM_016321 RHCG EXON Missense_V322A exm1187771 15 90021103 [T/C] NM_016321 RHCG EXON Missense_G314S exm1187780 15 90021205 [T/C] NM_016321 RHCG EXON Missense_V280M exm1187791 15 90023558 [A/G] NM_016321 RHCG EXON Missense_R202C exm1187793 15 90023569 [A/G] NM_016321 RHCG EXON Missense_I198T exm1187794 15 90023573 [A/G] NM_016321 RHCG EXON Missense_R197W exm1187798 15 90026342 [T/G] NM_016321 RHCG EXON Missense_T160P exm1187806 15 90030069 [T/C] NM_016321 RHCG EXON Missense_H111R exm1187812 15 90039643 [T/C] NM_016321 RHCG EXON Missense_T45A exm1187813 15 90039687 [A/G] NM_016321 RHCG EXON Missense_V30A exm1187817 15 90039753 [A/C] NM_016321 RHCG EXON Missense_R8L exm1187820 15 90118867 [T/C] NM_152259 TICRR EXON Missense_A17V exm1187828 15 90118999 [G/C] NM_152259 TICRR EXON Missense_R61P exm1187833 15 90119120 [A/C] NM_152259 TICRR EXON Missense_H101Q exm1187842 15 90119420 [C/G] NM_152259 TICRR EXON Missense_M201I exm1187850 15 90125991 [T/G] NM_152259 TICRR EXON Missense_L243F exm1187856 15 90126076 [T/C] NM_152259 TICRR EXON Missense_L272F exm1187858 15 90126094 [A/G] NM_152259 TICRR EXON Missense_M278V exm1187859 15 90126121 [T/C] NM_152259 TICRR EXON Missense_R287C exm1187864 15 90126164 [A/G] NM_152259 TICRR EXON Missense_R301Q exm1187873 15 90127697 [T/C] NM_152259 TICRR EXON Missense_A372V exm1187874 15 90127741 [C/G] NM_152259 TICRR EXON Missense_A387P exm1187885 15 90129086 [T/C] NM_152259 TICRR EXON Missense_P442S exm1843416 15 90129089 [T/C] NM_152259 TICRR EXON Missense_R443W exm1843417 15 90129090 [A/G] NM_152259 TICRR EXON Missense_R443Q exm1843418 15 90129104 [A/C] NM_152259 TICRR EXON Missense_L448I exm1187894 15 90135278 [T/C] NM_152259 TICRR EXON Missense_A471V exm1187895 15 90135325 [T/C] NM_152259 TICRR EXON Missense_P487S exm1187897 15 90137656 [C/G] NM_152259 TICRR EXON Missense_A518P exm1843429 15 90137671 [A/G] NM_152259 TICRR EXON Missense_K523E exm1187903 15 90137741 [G/C] NM_152259 TICRR EXON Missense_R546P exm1187904 15 90137755 [A/G] NM_152259 TICRR EXON Missense_I551V exm2277084 15 90137773 [A/G] NM_152259 TICRR EXON Missense_S557G exm1187906 15 90137773 [A/C] NM_152259 TICRR EXON Missense_S557R exm1187909 15 90138741 [T/C] NM_152259 TICRR EXON Missense_P600L exm1187917 15 90142648 [A/G] NM_152259 TICRR EXON Missense_R665Q exm1187919 15 90142672 [A/T] NM_152259 TICRR EXON Missense_M673K exm1187924 15 90144615 [T/C] NM_152259 TICRR EXON Missense_V747A exm1187937 15 90145047 [A/G] NM_152259 TICRR EXON Missense_V803I exm1187938 15 90145108 [T/C] NM_152259 TICRR EXON Missense_L823P exm1187940 15 90145135 [A/G] NM_152259 TICRR EXON Missense_R832H exm1187944 15 90146095 [G/C] NM_152259 TICRR EXON Missense_P879R exm1187953 15 90152079 [C/G] NM_152259 TICRR EXON Missense_S923C exm1187954 15 90152111 [T/C] NM_152259 TICRR EXON Missense_P934S exm1187963 15 90162954 [A/G] NM_152259 TICRR EXON Missense_R1012Q exm1187981 15 90166981 [G/C] NM_152259 TICRR EXON Missense_P1147R exm1187982 15 90167006 [T/G] NM_152259 TICRR EXON Missense_E1155D exm1187987 15 90167109 [A/G] NM_152259 TICRR EXON Missense_T1190A exm1187988 15 90167139 [A/G] NM_152259 TICRR EXON Missense_G1200S exm1187989 15 90167157 [T/A] NM_152259 TICRR EXON Missense_F1206I exm1187990 15 90167168 [A/C] NM_152259 TICRR EXON Missense_N1209K exm1843457 15 90167197 [T/G] NM_152259 TICRR EXON Missense_S1219I exm2252366 15 90167312 [T/C] NM_152259 TICRR EXON Synonymous_F1257F exm1188005 15 90167370 [A/G] NM_152259 TICRR EXON Missense_A1277T exm1188006 15 90167382 [C/G] NM_152259 TICRR EXON Missense_A1281P exm1188016 15 90167509 [C/G] NM_152259 TICRR EXON Missense_S1323T exm1188018 15 90167538 [C/G] NM_152259 TICRR EXON Missense_P1333A exm1188025 15 90167658 [A/G] NM_152259 TICRR EXON Missense_V1373I exm1188026 15 90167692 [A/G] NM_152259 TICRR EXON Missense_R1384Q exm1188029 15 90167736 [C/G] NM_152259 TICRR EXON Missense_Q1399E exm1188042 15 90168108 [T/C] NM_152259 TICRR EXON Missense_R1523C exm1188043 15 90168109 [A/G] NM_152259 TICRR EXON Missense_R1523H exm1188046 15 90168151 [T/C] NM_152259 TICRR EXON Missense_S1537L exm1188049 15 90168164 [A/C] NM_152259 TICRR EXON Missense_D1541E exm1188051 15 90168171 [T/C] NM_152259 TICRR EXON Missense_P1544S exm1188060 15 90168354 [G/C] NM_152259 TICRR EXON Missense_L1605V exm1188062 15 90168388 [A/C] NM_152259 TICRR EXON Missense_K1616T exm1188063 15 90168423 [T/C] NM_152259 TICRR EXON Missense_R1628C exm1188068 15 90168538 [T/C] NM_152259 TICRR EXON Missense_P1666L exm1843470 15 90168544 [T/C] NM_152259 TICRR EXON Missense_T1668I exm1188074 15 90168642 [A/G] NM_152259 TICRR EXON Missense_G1701R exm1188079 15 90168693 [A/T] NM_152259 TICRR EXON Missense_S1718T exm1188082 15 90168736 [T/C] NM_152259 TICRR EXON Missense_T1732M exm1188086 15 90168851 [C/G] NM_152259 TICRR EXON Missense_L1770F exm1188090 15 90168895 [A/G] NM_152259 TICRR EXON Missense_R1785H exm2224023 15 90168933 [A/G] NM_152259 TICRR EXON Missense_E1798K exm1188095 15 90169016 [T/C] NM_152259 TICRR EXON Synonymous_S1825S exm1188101 15 90169200 [C/G] NM_152259 TICRR EXON Missense_S1837T exm1188104 15 90169233 [C/G] NM_152259 TICRR EXON Missense_T1848S exm1188109 15 90170235 [C/G] NM_152259 TICRR EXON Missense_S1884T exm1188110 15 90170237 [T/C] NM_152259 TICRR EXON Missense_R1885C exm1188114 15 90170271 [A/C] NM_152259 TICRR EXON Missense_T1896N exm2273532 15 90171613 [T/C] NM_198525 KIF7 EXON Silent exm1188122 15 90171684 [T/G] NM_198525 KIF7 EXON Missense_P1333Q exm1188124 15 90171696 [C/G] NM_198525 KIF7 EXON Missense_R1329P exm1188125 15 90171697 [A/G] NM_198525 KIF7 EXON Nonsense_R1329X exm1843494 15 90171718 [A/G] NM_198525 KIF7 EXON Missense_S1322P exm1188131 15 90171738 [A/G] NM_198525 KIF7 EXON Missense_P1315L exm1188136 15 90171768 [T/C] NM_198525 KIF7 EXON Missense_R1305Q exm1188138 15 90171789 [A/G] NM_198525 KIF7 EXON Missense_A1298V exm1188139 15 90171840 [A/C] NM_198525 KIF7 EXON Missense_S1281I exm1188141 15 90171885 [T/C] NM_198525 KIF7 EXON Missense_R1266Q exm1188144 15 90171900 [T/G] NM_198525 KIF7 EXON Missense_T1261N exm1188158 15 90172234 [T/C] NM_198525 KIF7 EXON Missense_G1213S exm1188164 15 90172286 [G/C] NM_198525 KIF7 EXON Missense_K1195N exm1188181 15 90173612 [A/G] NM_198525 KIF7 EXON Missense_S1075L exm1188183 15 90173634 [A/G] NM_198525 KIF7 EXON Missense_R1068W exm1188194 15 90174776 [A/G] NM_198525 KIF7 EXON Missense_R1021C exm1188195 15 90174780 [G/C] NM_198525 KIF7 EXON Missense_K1019N exm1188200 15 90174824 [T/C] NM_198525 KIF7 EXON Missense_G1005R exm1188202 15 90174827 [A/G] NM_198525 KIF7 EXON Missense_R1004C exm1188205 15 90174856 [T/C] NM_198525 KIF7 EXON Missense_Q994R exm1188206 15 90174878 [T/C] NM_198525 KIF7 EXON Missense_E987K exm1188212 15 90174920 [C/G] NM_198525 KIF7 EXON Missense_R973G exm1188217 15 90176073 [A/C] NM_198525 KIF7 EXON Missense_S958I exm1188219 15 90176085 [A/G] NM_198525 KIF7 EXON Missense_T954M exm1188224 15 90176131 [A/G] NM_198525 KIF7 EXON Missense_R939W exm1188236 15 90176405 [C/G] NM_198525 KIF7 EXON Missense_S895R exm1188237 15 90176415 [T/C] NM_198525 KIF7 EXON Missense_R892H exm1188239 15 90176418 [G/C] NM_198525 KIF7 EXON Missense_R891T exm1843521 15 90176924 [T/C] NM_198525 KIF7 EXON Missense_R862H exm1843522 15 90176958 [A/G] NM_198525 KIF7 EXON Missense_R851C exm1188252 15 90176960 [A/C] NM_198525 KIF7 EXON Missense_R850L exm1188253 15 90176961 [A/G] NM_198525 KIF7 EXON Missense_R850W exm1188258 15 90177008 [T/C] NM_198525 KIF7 EXON Missense_Q834R exm1188262 15 90177033 [A/G] NM_198525 KIF7 EXON Missense_R826W exm1843528 15 90185464 [C/G] NM_198525 KIF7 EXON Missense_R788S exm1188279 15 90185493 [C/G] NM_198525 KIF7 EXON Missense_E779Q exm1188281 15 90185520 [T/C] NM_198525 KIF7 EXON Missense_E770K exm1188285 15 90185591 [T/C] NM_198525 KIF7 EXON Missense_R746Q exm1188286 15 90185592 [A/G] NM_198525 KIF7 EXON Missense_R746W exm1188290 15 90188249 [T/C] NM_198525 KIF7 EXON Missense_R729H exm1188293 15 90188262 [T/C] NM_198525 KIF7 EXON Missense_G725S exm2252367 15 90188356 [T/G] NM_198525 KIF7 EXON Synonymous_V693V exm1188312 15 90189125 [T/C] NM_198525 KIF7 EXON Missense_R641G exm1188317 15 90189161 [T/C] NM_198525 KIF7 EXON Missense_E629K exm1843544 15 90190186 [A/G] NM_198525 KIF7 EXON Missense_P555S exm2272277 15 90191355 [T/C] NM_198525 KIF7 Silent exm1188357 15 90196008 [T/C] NM_198525 KIF7 EXON Missense_D52N exm1188360 15 90196113 [A/G] NM_198525 KIF7 EXON Missense_R17W exm2224029 15 90210219 [A/G] NM_002666,NM_001145311 PLIN1,PLIN1 EXON Missense_A386V,Missense_A386V exm1843551 15 90210237 [A/G] NM_002666,NM_001145311 PLIN1,PLIN1 EXON Missense_A380V,Missense_A380V exm1188389 15 90210333 [A/G] NM_002666,NM_001145311 PLIN1,PLIN1 EXON Missense_S348L,Missense_S348L exm1188404 15 90210894 [A/G] NM_002666,NM_001145311 PLIN1,PLIN1 EXON Missense_T301M,Missense_T301M exm1188408 15 90210941 [G/C] NM_002666,NM_001145311 PLIN1,PLIN1 EXON Missense_H285Q,Missense_H285Q exm1188412 15 90210982 [T/C] NM_002666,NM_001145311 PLIN1,PLIN1 EXON Missense_V272M,Missense_V272M exm1188413 15 90210984 [A/G] NM_002666,NM_001145311 PLIN1,PLIN1 EXON Missense_A271V,Missense_A271V exm1188421 15 90212810 [A/C] NM_002666,NM_001145311 PLIN1,PLIN1 EXON Missense_R231L,Missense_R231L exm1188424 15 90212858 [T/C] NM_002666,NM_001145311 PLIN1,PLIN1 EXON Missense_K215R,Missense_K215R exm1188426 15 90213229 [G/C] NM_002666,NM_001145311 PLIN1,PLIN1 EXON Missense_P194A,Missense_P194A exm1188430 15 90213277 [T/C] NM_002666,NM_001145311 PLIN1,PLIN1 EXON Missense_D178N,Missense_D178N exm1188433 15 90213343 [A/C] NM_002666,NM_001145311 PLIN1,PLIN1 EXON Missense_V156L,Missense_V156L exm1188435 15 90213364 [T/C] NM_002666,NM_001145311 PLIN1,PLIN1 EXON Missense_G149R,Missense_G149R exm1188441 15 90213451 [T/C] NM_002666,NM_001145311 PLIN1,PLIN1 EXON Missense_I120V,Missense_I120V exm1188445 15 90214777 [A/G] NM_002666,NM_001145311 PLIN1,PLIN1 EXON Missense_L90P,Missense_L90P exm1188447 15 90216446 [A/G] NM_002666,NM_001145311 PLIN1,PLIN1 EXON Missense_T82I,Missense_T82I exm1188448 15 90216467 [A/G] NM_002666,NM_001145311 PLIN1,PLIN1 EXON Missense_P75L,Missense_P75L exm1188450 15 90216584 [A/C] NM_002666,NM_001145311 PLIN1,PLIN1 EXON Missense_C36F,Missense_C36F exm1188458 15 90226687 [A/G] NM_001271573,NM_003847,NM_001271572 PEX11A,PEX11A,PEX11A EXON Missense_I77T,Missense_I222T,Missense_I191T exm1188464 15 90226915 [A/C] NM_001271573,NM_003847,NM_001271572 PEX11A,PEX11A,PEX11A EXON Missense_M1R,Missense_M146R,Missense_M115R exm1188474 15 90227074 [T/C] NM_001271573,NM_003847,NM_001271572 PEX11A,PEX11A,PEX11A EXON Silent,Missense_R93H,Missense_R62H exm1188477 15 90227105 [A/G] NM_001271573,NM_003847,NM_001271572 PEX11A,PEX11A,PEX11A EXON Silent,Missense_R83C,Silent exm1188479 15 90227122 [A/G] NM_001271573,NM_003847,NM_001271572 PEX11A,PEX11A,PEX11A EXON Silent,Missense_A77V,Silent exm1188483 15 90229706 [A/G] NM_001271573,NM_003847,NM_001271572 PEX11A,PEX11A,PEX11A EXON Silent,Missense_M43T,Missense_M43T exm1188491 15 90245033 [A/G] NM_020212 WDR93 EXON Missense_R19Q exm1188493 15 90245063 [T/C] NM_020212 WDR93 EXON Missense_T29I exm1188496 15 90245116 [G/C] NM_020212 WDR93 EXON Missense_D47H exm1188502 15 90245174 [T/A] NM_020212 WDR93 EXON Missense_L66H exm1188504 15 90245215 [A/G] NM_020212 WDR93 EXON Missense_A80T exm2252369 15 90245253 [T/C] NM_020212 WDR93 EXON Synonymous_T92T exm1188513 15 90246283 [T/C] NM_020212 WDR93 EXON Missense_Y136H exm1188518 15 90255284 [A/G] NM_020212 WDR93 EXON Missense_I197V exm1188526 15 90260145 [A/T] NM_020212 WDR93 EXON Missense_S254T exm1188533 15 90270453 [A/G] NM_020212 WDR93 EXON Missense_G316R exm1188534 15 90270468 [T/A] NM_020212 WDR93 EXON Missense_I321F exm1188537 15 90272256 [T/C] NM_020212 WDR93 EXON Missense_T352M exm1843609 15 90274757 [A/G] NM_020212 WDR93 EXON Missense_E432K exm1188552 15 90276333 [A/T] NM_020212 WDR93 EXON Missense_Y476F exm1188555 15 90278755 [A/G] NM_020212 WDR93 EXON Missense_V527M exm1188559 15 90280892 [T/C] NM_020212 WDR93 EXON Missense_F566S exm1188562 15 90281276 [G/C] NM_020212 WDR93 EXON Missense_D590E exm1188563 15 90281278 [A/C] NM_020212 WDR93 EXON Missense_Y591S exm1188565 15 90281298 [A/G] NM_020212 WDR93 EXON Missense_T598A exm1843621 15 90281352 [T/C] NM_020212 WDR93 EXON Missense_P616S exm1188569 15 90281422 [A/C] NM_020212 WDR93 EXON Missense_Q639P exm1843630 15 90293407 [A/G] NM_018670 MESP1 EXON Missense_P259S exm1188609 15 90294028 [A/C] NM_018670 MESP1 EXON Missense_E145D exm1188683 15 90320381 [A/G] NM_001039958 MESP2 EXON Missense_T265A exm1188686 15 90320447 [T/C] NM_001039958 MESP2 EXON Missense_P287S exm1188689 15 90320496 [T/C] NM_001039958 MESP2 EXON Missense_L303P exm1188712 15 90328681 [A/G] NM_001150 ANPEP EXON Missense_R935W exm1188715 15 90328704 [T/G] NM_001150 ANPEP EXON Missense_E927A exm1188720 15 90334204 [G/C] NM_001150 ANPEP EXON Missense_N883K exm2252370 15 90335486 [A/G] NM_001150 ANPEP EXON Synonymous_F811F exm1188733 15 90335491 [T/C] NM_001150 ANPEP EXON Missense_D810N exm1188744 15 90335788 [T/C] NM_001150 ANPEP EXON Missense_S752N exm1188767 15 90342752 [C/G] NM_001150 ANPEP EXON Missense_V620L exm1188769 15 90344348 [T/C] NM_001150 ANPEP EXON Missense_V605I exm1188770 15 90344352 [T/C] NM_001150 ANPEP EXON Missense_I603M exm1188771 15 90344353 [A/T] NM_001150 ANPEP EXON Missense_I603K exm1843677 15 90344414 [T/C] NM_001150 ANPEP EXON Missense_V583M exm1188780 15 90344784 [A/G] NM_001150 ANPEP EXON Missense_R542C exm1188781 15 90344799 [A/G] NM_001150 ANPEP EXON Missense_R537W exm1188788 15 90346524 [T/G] NM_001150 ANPEP EXON Missense_H505Q exm1188789 15 90346526 [A/G] NM_001150 ANPEP EXON Missense_H505Y exm1188791 15 90346673 [T/C] NM_001150 ANPEP EXON Synonymous_A501A exm2274783 15 90346693 [T/C] NM_001150 ANPEP EXON Missense_V495I exm1188798 15 90346914 [C/G] NM_001150 ANPEP EXON Missense_Q467H exm1188808 15 90347148 [C/G] NM_001150 ANPEP EXON Missense_A422G exm1188820 15 90347575 [T/C] NM_001150 ANPEP EXON Missense_R363Q exm1188821 15 90347576 [A/G] NM_001150 ANPEP EXON Missense_R363W exm2274784 15 90347784 [A/G] NM_001150 ANPEP EXON Missense_T321M exm1188831 15 90347809 [C/G] NM_001150 ANPEP EXON Missense_H313D exm1188832 15 90347814 [A/G] NM_001150 ANPEP EXON Missense_A311V exm1188836 15 90348335 [T/C] NM_001150 ANPEP EXON Missense_E291K exm1188839 15 90348434 [T/G] NM_001150 ANPEP EXON Missense_L258I exm1188849 15 90349232 [A/G] NM_001150 ANPEP EXON Missense_R195C exm1188869 15 90349490 [T/C] NM_001150 ANPEP EXON Missense_V109I exm1188875 15 90349558 [T/C] NM_001150 ANPEP EXON Missense_R86Q exm1188880 15 90349598 [A/G] NM_001150 ANPEP EXON Missense_R73C exm1188891 15 90349757 [T/C] NM_001150 ANPEP EXON Missense_V20M exm1188895 15 90378756 [C/G] NR_023361,NM_001199058,NR_037582,NM_005829 AP3S2,C15orf38-AP3S2,AP3S2,AP3S2 EXON Silent,Missense_Q392H,Silent,Missense_Q191H exm1843731 15 90378800 [T/C] NR_023361,NM_001199058,NR_037582,NM_005829 AP3S2,C15orf38-AP3S2,AP3S2,AP3S2 EXON Silent,Missense_I378V,Silent,Missense_I177V exm2252371 15 90378852 [T/C] NR_023361,NM_001199058,NR_037582,NM_005829 AP3S2,C15orf38-AP3S2,AP3S2,AP3S2 EXON Silent,Synonymous_A360A,Silent,Synonymous_A159A exm2252373 15 90431839 [A/G] NR_023361,NM_001199058,NR_037582,NM_005829 AP3S2,C15orf38-AP3S2,AP3S2,AP3S2 EXON Silent,Synonymous_L264L,Silent,Synonymous_L63L exm1188920 15 90432308 [T/C] NR_023361,NM_001199058,NR_037582,NM_005829 AP3S2,C15orf38-AP3S2,AP3S2,AP3S2 EXON Silent,Missense_N246S,Silent,Missense_N45S exm1188928 15 90446471 [T/C] NM_001199058,NM_182616 C15orf38-AP3S2,C15orf38 EXON Missense_D217N,Missense_D217N exm1843754 15 90446501 [G/C] NM_001199058,NM_182616 C15orf38-AP3S2,C15orf38 EXON Missense_G207R,Missense_G207R exm1188934 15 90447042 [A/G] NM_001199058,NM_182616 C15orf38-AP3S2,C15orf38 EXON Missense_R159W,Missense_R159W exm1843760 15 90447101 [A/G] NM_001199058,NM_182616 C15orf38-AP3S2,C15orf38 EXON Missense_A139V,Missense_A139V exm1188944 15 90447114 [T/C] NM_001199058,NM_182616 C15orf38-AP3S2,C15orf38 EXON Missense_D135N,Missense_D135N exm1188945 15 90447127 [G/C] NM_001199058,NM_182616 C15orf38-AP3S2,C15orf38 EXON Missense_E130D,Missense_E130D exm-rs7178909 15 90447946 [A/G] NM_001199058,NM_182616 C15orf38-AP3S2,C15orf38 Silent,Silent exm1188956 15 90451619 [T/C] NM_001199058,NM_182616 C15orf38-AP3S2,C15orf38 EXON Missense_R65Q,Missense_R65Q exm1188957 15 90451620 [A/G] NM_001199058,NM_182616 C15orf38-AP3S2,C15orf38 EXON Missense_R65W,Missense_R65W exm2267849 15 90514894 [A/G] exm1188983 15 90610517 [G/C] NM_198526 ZNF710 EXON Missense_E50Q exm1188984 15 90610535 [A/G] NM_198526 ZNF710 EXON Missense_M56V exm2252374 15 90610810 [T/C] NM_198526 ZNF710 EXON Synonymous_C147C exm1189008 15 90610934 [C/G] NM_198526 ZNF710 EXON Missense_P189A exm1189013 15 90611024 [A/G] NM_198526 ZNF710 EXON Missense_E219K exm1189020 15 90611066 [A/G] NM_198526 ZNF710 EXON Missense_S233G exm1189022 15 90611094 [T/C] NM_198526 ZNF710 EXON Missense_P242L exm1189024 15 90611145 [T/C] NM_198526 ZNF710 EXON Missense_A259V exm1189058 15 90611792 [A/G] NM_198526 ZNF710 EXON Missense_I475V exm1189074 15 90622924 [T/G] NM_198526 ZNF710 EXON Missense_S620A exm1189077 15 90622936 [A/G] NM_198526 ZNF710 EXON Missense_G624S exm1189088 15 90627553 [A/G] NM_002168 IDH2 EXON Missense_T435M exm2224039 15 90628130 [T/C] NM_002168 IDH2 EXON Missense_M397V exm1189113 15 90628584 [T/C] NM_002168 IDH2 EXON Missense_V335I exm1189121 15 90630704 [T/C] NM_002168 IDH2 EXON Missense_R261H exm1189125 15 90631596 [T/C] NM_002168 IDH2 EXON Missense_D225N exm1189136 15 90633791 [A/G] NM_002168 IDH2 EXON Missense_I98T exm2267804 15 90718885 [A/G] exm1189165 15 90760712 [A/G] NM_020210,NM_198925 SEMA4B,SEMA4B EXON Missense_I67V,Missense_I67V exm1189167 15 90760728 [T/C] NM_020210,NM_198925 SEMA4B,SEMA4B EXON Missense_A72V,Missense_A72V exm1189175 15 90763025 [T/C] NM_020210,NM_198925 SEMA4B,SEMA4B EXON Missense_R129C,Missense_R129C exm1189181 15 90764249 [C/G] NM_020210,NM_198925 SEMA4B,SEMA4B EXON Missense_K173N,Missense_K173N exm1189203 15 90767098 [A/G] NM_020210,NM_198925 SEMA4B,SEMA4B EXON Missense_V358I,Missense_V358I exm1189207 15 90767220 [A/G] NM_020210,NM_198925 SEMA4B,SEMA4B EXON Synonymous_A398A,Synonymous_A398A exm1189221 15 90768389 [A/G] NM_020210,NM_198925 SEMA4B,SEMA4B EXON Missense_D462N,Missense_D462N exm1189226 15 90768544 [A/T] NM_020210,NM_198925 SEMA4B,SEMA4B EXON Missense_V479E,Missense_V479E exm1189236 15 90768896 [A/C] NM_020210,NM_198925 SEMA4B,SEMA4B EXON Missense_L509M,Missense_L509M exm1189237 15 90768923 [A/G] NM_020210,NM_198925 SEMA4B,SEMA4B EXON Missense_V518I,Missense_V518I exm1189238 15 90768942 [T/C] NM_020210,NM_198925 SEMA4B,SEMA4B EXON Missense_A524V,Missense_A524V exm1189242 15 90768983 [A/G] NM_020210,NM_198925 SEMA4B,SEMA4B EXON Missense_A538T,Missense_A538T exm1189248 15 90770815 [T/C] NM_020210,NM_198925 SEMA4B,SEMA4B EXON Missense_A572V,Missense_A572V exm1189249 15 90770839 [T/C] NM_020210,NM_198925 SEMA4B,SEMA4B EXON Missense_A580V,Missense_A580V exm1189256 15 90771256 [T/C] NM_020210,NM_198925 SEMA4B,SEMA4B EXON Missense_S632L,Missense_S632L exm1189259 15 90771424 [T/G] NM_020210,NM_198925 SEMA4B,SEMA4B EXON Missense_S688I,Missense_S688I exm1189263 15 90771435 [A/G] NM_020210,NM_198925 SEMA4B,SEMA4B EXON Missense_I692V,Missense_I692V exm1189269 15 90771526 [C/G] NM_020210,NM_198925 SEMA4B,SEMA4B EXON Missense_C722S,Missense_C722S exm2252375 15 90771644 [T/C] NM_020210,NM_198925 SEMA4B,SEMA4B EXON Synonymous_C761C,Synonymous_C761C exm1189283 15 90771750 [T/G] NM_020210,NM_198925 SEMA4B,SEMA4B EXON Missense_S797A,Missense_S797A exm1189284 15 90771754 [A/G] NM_020210,NM_198925 SEMA4B,SEMA4B EXON Missense_R798Q,Missense_R798Q exm1189285 15 90771787 [A/G] NM_020210,NM_198925 SEMA4B,SEMA4B EXON Missense_S809N,Missense_S809N exm1189301 15 90774332 [C/G] NM_006384 CIB1 EXON Missense_D154H exm1189323 15 90775497 [T/C] NM_006384 CIB1 EXON Missense_R50Q exm1189325 15 90775513 [T/C] NM_006384 CIB1 EXON Missense_V45M exm1843886 15 90775527 [T/G] NM_006384 CIB1 EXON Missense_Q40P exm1189336 15 90784165 [A/G] NM_001013657 GDPGP1 EXON Missense_E9K exm1189341 15 90784250 [T/C] NM_001013657 GDPGP1 EXON Missense_M37T exm1189347 15 90784342 [A/G] NM_001013657 GDPGP1 EXON Missense_K68E exm1189349 15 90784375 [T/C] NM_001013657 GDPGP1 EXON Missense_R79C exm1189350 15 90784376 [A/G] NM_001013657 GDPGP1 EXON Missense_R79H exm1189362 15 90784478 [A/G] NM_001013657 GDPGP1 EXON Missense_K113R exm1189364 15 90784534 [T/G] NM_001013657 GDPGP1 EXON Nonsense_G132X exm1189365 15 90784550 [A/G] NM_001013657 GDPGP1 EXON Missense_R137H exm1843891 15 90784558 [T/C] NM_001013657 GDPGP1 EXON Missense_R140W exm1189371 15 90784632 [T/G] NM_001013657 GDPGP1 EXON Missense_W164C exm1189387 15 90784862 [A/G] NM_001013657 GDPGP1 EXON Missense_G241E exm1189389 15 90784919 [A/G] NM_001013657 GDPGP1 EXON Missense_R260H exm1189392 15 90784953 [G/C] NM_001013657 GDPGP1 EXON Missense_S271R exm1189399 15 90785060 [T/C] NM_001013657 GDPGP1 EXON Missense_T307I exm1843902 15 90794031 [A/C] NM_001029964 TTLL13 EXON Missense_M57L exm1189415 15 90794098 [A/G] NM_001029964 TTLL13 EXON Missense_R79K exm1189417 15 90794101 [A/C] NM_001029964 TTLL13 EXON Missense_K80T exm1189420 15 90794110 [A/G] NM_001029964 TTLL13 EXON Missense_R83Q exm1189426 15 90796483 [T/C] NM_001029964 TTLL13 EXON Missense_R101C exm1189428 15 90796515 [C/G] NM_001029964 TTLL13 EXON Missense_E111D exm1189432 15 90798991 [T/C] NM_001029964 TTLL13 EXON Missense_I141T exm1189435 15 90799042 [A/G] NM_001029964 TTLL13 EXON Missense_R158Q exm1189439 15 90799066 [T/C] NM_001029964 TTLL13 EXON Missense_L166P exm1189444 15 90799420 [A/G] NM_001029964 TTLL13 EXON Missense_Y199C exm1189447 15 90799452 [T/C] NM_001029964 TTLL13 EXON Missense_R210C exm1189451 15 90800403 [T/C] NM_001029964 TTLL13 EXON Nonsense_R247X exm1189455 15 90800413 [T/C] NM_001029964 TTLL13 EXON Missense_V250A exm1189458 15 90800439 [T/C] NM_001029964 TTLL13 EXON Missense_R259W exm1189459 15 90800449 [T/C] NM_001029964 TTLL13 EXON Missense_T262I exm1189464 15 90800513 [A/G] NM_001029964 TTLL13 EXON Synonymous_L283L exm1189474 15 90801332 [A/G] NM_001029964 TTLL13 EXON Missense_G333E exm1189481 15 90801452 [T/A] NM_001029964 TTLL13 EXON Missense_L373H exm1189482 15 90801499 [C/G] NM_001029964 TTLL13 EXON Missense_E389Q exm1189487 15 90802068 [T/C] NM_001029964 TTLL13 EXON Missense_R421W exm1189488 15 90802090 [T/A] NM_001029964 TTLL13 EXON Missense_V428E exm1189490 15 90802108 [T/G] NM_001029964 TTLL13 EXON Missense_R434L exm1189508 15 90809534 [A/G] NM_001033088,NR_028052 NGRN,NGRN EXON Missense_Q60R,Silent exm1189512 15 90809600 [T/C] NM_001033088,NR_028052 NGRN,NGRN EXON Missense_T82I,Silent exm1189519 15 90814420 [A/G] NM_001033088,NR_028052 NGRN,NGRN EXON Synonymous_R92R,Silent exm1189521 15 90814433 [G/C] NM_001033088,NR_028052 NGRN,NGRN EXON Missense_E97Q,Silent exm1843928 15 90814518 [A/C] NM_001033088,NR_028052 NGRN,NGRN EXON Missense_K125T,Silent exm1189526 15 90814559 [A/G] NM_001033088,NR_028052 NGRN,NGRN EXON Missense_K139E,Silent exm1189527 15 90814578 [A/G] NM_001033088,NR_028052 NGRN,NGRN EXON Missense_G145E,Silent exm1189528 15 90814584 [T/C] NM_001033088,NR_028052 NGRN,NGRN EXON Missense_A147V,Silent exm1189531 15 90814604 [T/C] NM_001033088,NR_028052 NGRN,NGRN EXON Missense_R154W,Silent exm1189536 15 90814664 [T/C] NM_001033088,NR_028052 NGRN,NGRN EXON Missense_L174F,Silent exm1189544 15 90814878 [A/G] NM_001033088,NR_028052 NGRN,NGRN EXON Missense_R245K,Silent exm1189549 15 90814976 [T/C] NM_001033088,NR_028052 NGRN,NGRN EXON Nonsense_R278X,Silent exm1189556 15 90902097 [C/G] NM_001004309 ZNF774 EXON Missense_S40T exm1189557 15 90902112 [T/C] NM_001004309 ZNF774 EXON Missense_P45L exm1189564 15 90903310 [A/C] NM_001004309 ZNF774 EXON Missense_N83H exm1189565 15 90903311 [A/G] NM_001004309 ZNF774 EXON Missense_N83S exm1189566 15 90903320 [T/C] NM_001004309 ZNF774 EXON Missense_T86I exm1189567 15 90903364 [T/C] NM_001004309 ZNF774 EXON Missense_L101F exm2252376 15 90903408 [A/G] NM_001004309 ZNF774 EXON Synonymous_L115L exm1189573 15 90903502 [A/G] NM_001004309 ZNF774 EXON Missense_V147I exm1189575 15 90903557 [A/G] NM_001004309 ZNF774 EXON Missense_Y165C exm1189581 15 90903608 [T/C] NM_001004309 ZNF774 EXON Missense_I182T exm1189589 15 90903820 [T/C] NM_001004309 ZNF774 EXON Missense_H253Y exm1189598 15 90903982 [A/G] NM_001004309 ZNF774 EXON Missense_I307V exm1189601 15 90904012 [T/C] NM_001004309 ZNF774 EXON Missense_R317W exm1189603 15 90904028 [T/C] NM_001004309 ZNF774 EXON Missense_P322L exm1189609 15 90904216 [A/G] NM_001004309 ZNF774 EXON Missense_A385T exm1189615 15 90904421 [A/G] NM_001004309 ZNF774 EXON Missense_H453R exm1189617 15 90904468 [T/C] NM_001004309 ZNF774 EXON Missense_R469C exm1189631 15 90934008 [A/G] NM_003870 IQGAP1 EXON Missense_V20I exm1189636 15 90969426 [A/T] NM_003870 IQGAP1 EXON Missense_K80N exm1189653 15 90984854 [T/G] NM_003870 IQGAP1 EXON Missense_S256A exm1843961 15 90984869 [A/G] NM_003870 IQGAP1 EXON Missense_I261V exm1843963 15 90984905 [T/G] NM_003870 IQGAP1 EXON Missense_A273S exm1843969 15 90986652 [A/T] NM_003870 IQGAP1 EXON Missense_D285E exm1189666 15 90991921 [A/G] NM_003870 IQGAP1 EXON Missense_D344N exm1189668 15 90991950 [T/G] NM_003870 IQGAP1 EXON Missense_D353E exm1189673 15 90996087 [A/G] NM_003870 IQGAP1 EXON Missense_E415K exm1189679 15 90996517 [T/C] NM_003870 IQGAP1 EXON Missense_C494R exm1189683 15 90997745 [A/G] NM_003870 IQGAP1 EXON Missense_V525M exm1189685 15 90997774 [T/G] NM_003870 IQGAP1 EXON Missense_E534D exm1189687 15 90999414 [C/G] NM_003870 IQGAP1 EXON Missense_A548G exm1189709 15 91016157 [A/G] NM_003870 IQGAP1 EXON Missense_R755H exm1189724 15 91017718 [T/C] NM_003870 IQGAP1 EXON Synonymous_I859I exm1189725 15 91017750 [A/G] NM_003870 IQGAP1 EXON Missense_R870Q exm1189726 15 91017812 [A/C] NM_003870 IQGAP1 EXON Missense_K891Q exm1189727 15 91017818 [C/G] NM_003870 IQGAP1 EXON Missense_R893G exm1189739 15 91020899 [T/C] NM_003870 IQGAP1 EXON Missense_S1036L exm1189757 15 91026728 [A/G] NM_003870 IQGAP1 EXON Missense_M1231V exm1189758 15 91026730 [A/G] NM_003870 IQGAP1 EXON Missense_M1231I exm1189759 15 91026731 [T/C] NM_003870 IQGAP1 EXON Missense_L1232F exm1189762 15 91027543 [A/G] NM_003870 IQGAP1 EXON Missense_V1294I exm1189770 15 91030216 [A/G] NM_003870 IQGAP1 EXON Missense_N1352S exm2252377 15 91030238 [A/G] NM_003870 IQGAP1 EXON Synonymous_T1359T exm1189778 15 91030797 [T/C] NM_003870 IQGAP1 EXON Missense_P1411S exm1189786 15 91034776 [A/G] NM_003870 IQGAP1 EXON Missense_R1487K exm-rs12915189 15 91114376 [A/G] NM_022769,NM_001042574 CRTC3,CRTC3 Silent,Silent exm1189808 15 91136880 [A/C] NM_022769,NM_001042574 CRTC3,CRTC3 EXON Missense_Q82K,Missense_Q82K exm1189814 15 91145559 [A/G] NM_022769,NM_001042574 CRTC3,CRTC3 EXON Missense_D119N,Missense_D119N exm1189816 15 91147639 [A/G] NM_022769,NM_001042574 CRTC3,CRTC3 EXON Missense_E146K,Missense_E146K exm1189819 15 91147652 [A/G] NM_022769,NM_001042574 CRTC3,CRTC3 EXON Missense_G150E,Missense_G150E exm1189825 15 91150655 [T/G] NM_022769,NM_001042574 CRTC3,CRTC3 EXON Missense_K174N,Missense_K174N exm1189834 15 91157708 [A/G] NM_022769,NM_001042574 CRTC3,CRTC3 EXON Missense_G201R,Missense_G201R exm1189843 15 91161186 [T/G] NM_022769,NM_001042574 CRTC3,CRTC3 EXON Missense_W229G,Missense_W229G exm1189846 15 91162973 [A/G] NM_022769,NM_001042574 CRTC3,CRTC3 EXON Missense_I234V,Missense_I234V exm1189854 15 91169160 [A/G] NM_022769,NM_001042574 CRTC3,CRTC3 EXON Missense_S301N,Missense_S301N exm1189859 15 91169197 [C/G] NM_022769,NM_001042574 CRTC3,CRTC3 EXON Missense_M313I,Missense_M313I exm1189864 15 91172556 [T/C] NM_022769,NM_001042574 CRTC3,CRTC3 EXON Missense_S353F,Missense_S353F exm1189876 15 91172666 [A/G] NM_022769,NM_001042574 CRTC3,CRTC3 EXON Missense_V390I,Missense_V390I exm1189885 15 91181835 [G/C] NM_022769,NM_001042574 CRTC3,CRTC3 EXON Missense_A475G,Missense_A475G exm1189892 15 91181983 [A/G] NM_022769,NM_001042574 CRTC3,CRTC3 EXON Missense_N495S,Missense_N495S exm1189899 15 91184364 [T/G] NM_022769,NM_001042574 CRTC3,CRTC3 EXON Missense_Q528H,Missense_Q528H exm1189902 15 91184390 [T/C] NM_022769,NM_001042574 CRTC3,CRTC3 EXON Missense_P537L,Missense_P537L exm1844093 15 91184414 [T/C] NM_022769,NM_001042574 CRTC3,CRTC3 EXON Missense_P545L,Missense_P545L exm1189924 15 91290630 [G/C] NM_000057 BLM EXON Missense_A3G exm1189925 15 91290633 [T/C] NM_000057 BLM EXON Missense_V4A exm1189927 15 91290665 [T/C] NM_000057 BLM EXON Missense_R15C exm1844104 15 91292676 [T/A] NM_000057 BLM EXON Missense_L60I exm1189930 15 91292689 [T/A] NM_000057 BLM EXON Missense_D64V exm1189934 15 91292752 [C/G] NM_000057 BLM EXON Missense_R85T exm1189935 15 91292772 [A/G] NM_000057 BLM EXON Missense_N92D exm1189939 15 91292908 [A/G] NM_000057 BLM EXON Missense_K137R exm1189940 15 91292917 [A/G] NM_000057 BLM EXON Missense_E140G exm1189943 15 91292977 [T/C] NM_000057 BLM EXON Missense_F160S exm1189963 15 91295059 [A/C] NM_000057 BLM EXON Missense_H281P exm1189964 15 91295064 [A/G] NM_000057 BLM EXON Missense_T283A exm1189968 15 91295110 [T/C] NM_000057 BLM EXON Missense_T298M exm1189971 15 91298049 [A/G] NM_000057 BLM EXON Missense_K323R exm1189978 15 91298168 [A/G] NM_000057 BLM EXON Missense_A363T exm1189990 15 91303918 [A/G] NM_000057 BLM EXON Missense_M439V exm1189995 15 91304204 [A/G] NM_000057 BLM EXON Missense_N534S exm1189996 15 91304245 [T/C] NM_000057 BLM EXON Nonsense_Q548X exm1190007 15 91306237 [A/G] NM_000057 BLM EXON Missense_E642K exm1190015 15 91308570 [T/C] NM_000057 BLM EXON Missense_P707S exm1190020 15 91310209 [A/G] NM_000057 BLM EXON Missense_K755E exm2274785 15 91310239 [A/G] NM_000057 BLM EXON Missense_V765I exm1190025 15 91312388 [C/G] NM_000057 BLM EXON Missense_S778C exm2276402 15 91312417 [A/C] NM_000057 BLM EXON Missense_L788I exm1190029 15 91312426 [T/C] NM_000057 BLM EXON Missense_R791C exm1190039 15 91326099 [T/C] NM_000057 BLM EXON Missense_P868L exm1190041 15 91326134 [G/C] NM_000057 BLM EXON Missense_E880Q exm1844139 15 91333894 [A/G] NM_000057 BLM EXON Missense_I947V exm1190055 15 91337418 [A/G] NM_000057 BLM EXON Missense_H1014R exm1190060 15 91337448 [A/G] NM_000057 BLM EXON Missense_Y1024C exm1190062 15 91337505 [A/C] NM_000057 BLM EXON Missense_A1043D exm1190073 15 91346789 [A/G] NM_000057 BLM EXON Missense_K1133E exm1190075 15 91346819 [A/G] NM_000057 BLM EXON Missense_E1143K exm1190083 15 91347430 [A/G] NM_000057 BLM EXON Missense_V1198M exm1190085 15 91347451 [A/G] NM_000057 BLM EXON Missense_V1205I exm1190086 15 91347463 [A/T] NM_000057 BLM EXON Missense_S1209T exm2267805 15 91351930 [A/G] NM_000057 BLM Silent exm1190101 15 91354521 [A/G] NM_000057 BLM EXON Missense_V1321I exm1190102 15 91354551 [A/G] NM_000057 BLM EXON Missense_R1331G exm-rs17514846 15 91416550 [A/C] NM_002569 FURIN Silent exm1190115 15 91419079 [T/C] NM_002569 FURIN EXON Missense_R37C exm1190116 15 91419098 [T/C] NM_002569 FURIN EXON Missense_A43V exm1190118 15 91419118 [T/C] NM_002569 FURIN EXON Missense_R50W exm1190123 15 91419548 [T/C] NM_002569 FURIN EXON Missense_R81C exm1190128 15 91419740 [A/G] NM_002569 FURIN EXON Missense_V109M exm1190136 15 91420169 [T/C] NM_002569 FURIN EXON Missense_A139V exm1190144 15 91420368 [A/C] NM_002569 FURIN EXON Missense_P169T exm1190152 15 91421497 [A/G] NM_002569 FURIN EXON Missense_R268H exm1190171 15 91422984 [T/C] NM_002569 FURIN EXON Missense_T413I exm1190178 15 91423337 [T/C] NM_002569 FURIN EXON Missense_R464W exm2274786 15 91423481 [A/C] NM_002569 FURIN EXON Missense_R512S exm1190195 15 91423970 [A/T] NM_002569 FURIN EXON Missense_T536S exm1190200 15 91424186 [T/C] NM_002569 FURIN EXON Missense_L570F exm1844213 15 91424255 [A/G] NM_002569 FURIN EXON Missense_S593G exm1190206 15 91424593 [A/G] NM_002569 FURIN EXON Missense_D624N exm1190211 15 91424647 [A/G] NM_002569 FURIN EXON Missense_A642T exm1190213 15 91424659 [A/G] NM_002569 FURIN EXON Missense_A646T exm1190227 15 91424905 [A/G] NM_002569 FURIN EXON Missense_V728I exm1190231 15 91424957 [A/G] NM_002569 FURIN EXON Missense_R745Q exm1190232 15 91424980 [A/G] NM_002569 FURIN EXON Missense_D753N exm1190249 15 91428327 [A/C] NM_001143785,NM_002005,NM_001143783,NM_001143784 FES,FES,FES,FES EXON Missense_Q18K,Missense_Q18K,Missense_Q18K,Missense_Q18K exm1190251 15 91428360 [C/G] NM_001143785,NM_002005,NM_001143783,NM_001143784 FES,FES,FES,FES EXON Missense_G29R,Missense_G29R,Missense_G29R,Missense_G29R exm1190295 15 91432595 [T/C] NM_001143785,NM_002005,NM_001143783,NM_001143784 FES,FES,FES,FES EXON Missense_A185V,Missense_A243V,Missense_A185V,Missense_A243V exm1190297 15 91432603 [T/C] NM_001143785,NM_002005,NM_001143783,NM_001143784 FES,FES,FES,FES EXON Missense_R188W,Missense_R246W,Missense_R188W,Missense_R246W exm1190298 15 91432604 [A/G] NM_001143785,NM_002005,NM_001143783,NM_001143784 FES,FES,FES,FES EXON Missense_R188Q,Missense_R246Q,Missense_R188Q,Missense_R246Q exm1190308 15 91432809 [T/C] NM_001143785,NM_002005,NM_001143783,NM_001143784 FES,FES,FES,FES EXON Missense_P232L,Missense_P290L,Missense_P232L,Missense_P290L exm1190318 15 91433110 [A/G] NM_001143785,NM_002005,NM_001143783,NM_001143784 FES,FES,FES,FES EXON Missense_M265V,Missense_M323V,Missense_M265V,Missense_M323V exm1190319 15 91433123 [A/G] NM_001143785,NM_002005,NM_001143783,NM_001143784 FES,FES,FES,FES EXON Missense_R269Q,Missense_R327Q,Missense_R269Q,Missense_R327Q exm1190321 15 91433138 [T/C] NM_001143785,NM_002005,NM_001143783,NM_001143784 FES,FES,FES,FES EXON Missense_T274M,Missense_T332M,Missense_T274M,Missense_T332M exm1190331 15 91433507 [T/C] NM_001143785,NM_002005,NM_001143783,NM_001143784 FES,FES,FES,FES EXON Missense_S354L,Missense_S412L,Missense_S354L,Missense_S412L exm1190353 15 91434288 [T/C] NM_001143785,NM_002005,NM_001143783,NM_001143784 FES,FES,FES,FES EXON Silent,Missense_P466L,Missense_P408L,Silent exm1190358 15 91434395 [T/C] NM_001143785,NM_002005,NM_001143783,NM_001143784 FES,FES,FES,FES EXON Silent,Missense_R502W,Missense_R444W,Silent exm1190388 15 91437008 [A/G] NM_001143785,NM_002005,NM_001143783,NM_001143784 FES,FES,FES,FES EXON Missense_V596M,Missense_V724M,Missense_V666M,Missense_V654M exm1190402 15 91437250 [A/G] NM_001143785,NM_002005,NM_001143783,NM_001143784 FES,FES,FES,FES EXON Missense_N635S,Missense_N763S,Missense_N705S,Missense_N693S exm1190406 15 91438652 [A/G] NM_001143785,NM_002005,NM_001143783,NM_001143784 FES,FES,FES,FES EXON Missense_R650H,Missense_R778H,Missense_R720H,Missense_R708H exm1190409 15 91438747 [A/G] NM_001143785,NM_002005,NM_001143783,NM_001143784 FES,FES,FES,FES EXON Missense_I682V,Missense_I810V,Missense_I752V,Missense_I740V exm1190411 15 91438783 [T/C] NM_001143785,NM_002005,NM_001143783,NM_001143784 FES,FES,FES,FES EXON Missense_R694W,Missense_R822W,Missense_R764W,Missense_R752W exm1190430 15 91448591 [A/C] NM_006122 MAN2A2 EXON Missense_N81K exm1190433 15 91448626 [T/C] NM_006122 MAN2A2 EXON Missense_T93M exm1190438 15 91448688 [T/C] NM_006122 MAN2A2 EXON Nonsense_Q114X exm1190443 15 91448719 [T/G] NM_006122 MAN2A2 EXON Missense_G124V exm1190454 15 91449234 [C/G] NM_006122 MAN2A2 EXON Missense_A232G exm1190456 15 91449237 [T/C] NM_006122 MAN2A2 EXON Missense_A233V exm1190461 15 91449612 [C/G] NM_006122 MAN2A2 EXON Missense_N240K exm2252379 15 91449702 [T/A] NM_006122 MAN2A2 EXON Synonymous_G270G exm1190474 15 91449982 [A/G] NM_006122 MAN2A2 EXON Missense_R283H exm-rs2677744 15 91450441 [A/G] NM_006122 MAN2A2 Silent exm1190486 15 91450695 [A/G] NM_006122 MAN2A2 EXON Missense_R389Q exm1190490 15 91452594 [T/C] NM_006122 MAN2A2 EXON Nonsense_Q412X exm1190491 15 91452595 [A/G] NM_006122 MAN2A2 EXON Missense_Q412R exm1190492 15 91452604 [A/G] NM_006122 MAN2A2 EXON Missense_R415Q exm1190507 15 91453455 [T/C] NM_006122 MAN2A2 EXON Missense_W504R exm1190524 15 91454168 [T/C] NM_006122 MAN2A2 EXON Missense_P618S exm1190525 15 91454175 [T/C] NM_006122 MAN2A2 EXON Missense_A620V exm1190533 15 91454462 [T/C] NM_006122 MAN2A2 EXON Missense_S646L exm1190540 15 91454665 [T/C] NM_006122 MAN2A2 EXON Missense_S665F exm1190547 15 91454724 [A/G] NM_006122 MAN2A2 EXON Missense_V685M exm1190551 15 91454767 [T/C] NM_006122 MAN2A2 EXON Missense_P699L exm1190557 15 91455345 [T/C] NM_006122 MAN2A2 EXON Missense_R728C exm1190561 15 91455385 [A/G] NM_006122 MAN2A2 EXON Missense_R741Q exm1190567 15 91455414 [T/G] NM_006122 MAN2A2 EXON Missense_F751V exm1190568 15 91455423 [T/C] NM_006122 MAN2A2 EXON Missense_R754C exm1190572 15 91455466 [A/G] NM_006122 MAN2A2 EXON Missense_R768H exm1190582 15 91456173 [T/G] NM_006122 MAN2A2 EXON Missense_A846S exm1844337 15 91456590 [A/G] NM_006122 MAN2A2 EXON Missense_D891G exm1190591 15 91456607 [A/G] NM_006122 MAN2A2 EXON Missense_I897V exm2275247 15 91456984 [T/C] NM_006122 MAN2A2 EXON Synonymous_D953D exm1190603 15 91459475 [A/G] NM_006122 MAN2A2 EXON Missense_V995M exm1190613 15 91461545 [A/G] NM_006122 MAN2A2 EXON Missense_R1039H exm1190615 15 91461571 [A/C] NM_006122 MAN2A2 EXON Missense_L1048M exm-rs1266483 15 91462406 [A/G] NM_006122 MAN2A2 Silent exm1190629 15 91463000 [T/C] NM_006122 MAN2A2 EXON Missense_R1146C exm1190641 15 91475018 [A/G] NM_001039675,NM_198527 UNC45A,HDDC3 EXON Silent,Missense_P109S exm1190674 15 91479553 [T/C] NM_001039675,NM_018671 UNC45A,UNC45A EXON Missense_R82W,Missense_R97W exm1190678 15 91479662 [A/G] NM_001039675,NM_018671 UNC45A,UNC45A EXON Missense_R118Q,Missense_R133Q exm1190682 15 91482977 [T/C] NM_001039675,NM_018671 UNC45A,UNC45A EXON Missense_S133L,Missense_S148L exm1190683 15 91482980 [T/C] NM_001039675,NM_018671 UNC45A,UNC45A EXON Missense_T134M,Missense_T149M exm1190693 15 91483554 [A/G] NM_001039675,NM_018671 UNC45A,UNC45A EXON Missense_V165M,Missense_V180M exm2274787 15 91483657 [T/C] NM_001039675,NM_018671 UNC45A,UNC45A EXON Missense_A199V,Missense_A214V exm1844380 15 91485698 [A/G] NM_001039675,NM_018671 UNC45A,UNC45A EXON Missense_R225Q,Missense_R240Q exm1190713 15 91485730 [G/C] NM_001039675,NM_018671 UNC45A,UNC45A EXON Missense_Q236E,Missense_Q251E exm1190716 15 91485771 [A/G] NM_001039675,NM_018671 UNC45A,UNC45A EXON Missense_M249I,Missense_M264I exm1190728 15 91486250 [T/C] NM_001039675,NM_018671 UNC45A,UNC45A EXON Missense_A307V,Missense_A322V exm1190729 15 91486258 [T/C] NM_001039675,NM_018671 UNC45A,UNC45A EXON Missense_R310W,Missense_R325W exm1190732 15 91486311 [A/C] NM_001039675,NM_018671 UNC45A,UNC45A EXON Missense_Q327H,Missense_Q342H exm1190747 15 91489935 [T/C] NM_001039675,NM_018671 UNC45A,UNC45A EXON Missense_R416W,Missense_R431W exm1190748 15 91489936 [A/G] NM_001039675,NM_018671 UNC45A,UNC45A EXON Missense_R416Q,Missense_R431Q exm1190749 15 91489953 [T/G] NM_001039675,NM_018671 UNC45A,UNC45A EXON Missense_G422C,Missense_G437C exm1190769 15 91491117 [A/G] NM_001039675,NM_018671 UNC45A,UNC45A EXON Missense_R516Q,Missense_R531Q exm2252380 15 91491390 [A/G] NM_001039675,NM_018671 UNC45A,UNC45A EXON Synonymous_Q523Q,Synonymous_Q538Q exm1190775 15 91491409 [T/C] NM_001039675,NM_018671 UNC45A,UNC45A EXON Missense_R530C,Missense_R545C exm1190781 15 91491883 [T/G] NM_001039675,NM_018671 UNC45A,UNC45A Silent,Silent exm1190786 15 91491964 [A/C] NM_001039675,NM_018671 UNC45A,UNC45A EXON Missense_D591E,Missense_D606E exm1190791 15 91492013 [T/C] NM_001039675,NM_018671 UNC45A,UNC45A EXON Nonsense_Q608X,Nonsense_Q623X exm1190801 15 91492670 [A/C] NM_001039675,NM_018671 UNC45A,UNC45A EXON Missense_S653Y,Missense_S668Y exm1190812 15 91493430 [A/G] NM_001039675,NM_018671 UNC45A,UNC45A EXON Missense_K692R,Missense_K707R exm1190829 15 91496224 [T/C] NM_001039675,NM_018671 UNC45A,UNC45A EXON Missense_M775T,Missense_M790T exm1190832 15 91496233 [A/G] NM_001039675,NM_018671 UNC45A,UNC45A EXON Missense_R778Q,Missense_R793Q exm1190833 15 91496242 [T/C] NM_001039675,NM_018671 UNC45A,UNC45A EXON Missense_T781M,Missense_T796M exm1190835 15 91496386 [T/C] NM_001039675,NM_018671 UNC45A,UNC45A EXON Missense_V793A,Missense_V808A exm1190838 15 91496469 [T/C] NM_001039675,NM_018671 UNC45A,UNC45A EXON Missense_R821W,Missense_R836W exm1190843 15 91496533 [T/C] NM_001039675,NM_018671 UNC45A,UNC45A EXON Missense_P842L,Missense_P857L exm1190853 15 91496908 [A/G] NM_001039675,NM_018671 UNC45A,UNC45A EXON Missense_E918K,Missense_E933K exm1190854 15 91499986 [T/G] NM_033544,NM_001017919 RCCD1,RCCD1 EXON Missense_A8S,Missense_A8S exm1190865 15 91500489 [A/C] NM_033544,NM_001017919 RCCD1,RCCD1 EXON Missense_L105M,Missense_L105M exm1190866 15 91500532 [T/C] NM_033544,NM_001017919 RCCD1,RCCD1 EXON Missense_A119V,Missense_A119V exm1190873 15 91500905 [T/C] NM_033544,NM_001017919 RCCD1,RCCD1 EXON Missense_L210P,Missense_L210P exm1190878 15 91500925 [T/G] NM_033544,NM_001017919 RCCD1,RCCD1 EXON Missense_A217S,Missense_A217S exm1190899 15 91503672 [T/C] NM_033544,NM_001017919 RCCD1,RCCD1 EXON Missense_M298T,Missense_M298T exm1190900 15 91503684 [T/C] NM_033544,NM_001017919 RCCD1,RCCD1 EXON Missense_A302V,Missense_A302V exm2272325 15 91503871 [T/G] NM_033544,NM_001017919 RCCD1,RCCD1 Silent,Silent exm1190908 15 91504893 [A/G] NM_033544,NM_001017919 RCCD1,RCCD1 EXON Missense_R342Q,Missense_R342Q exm1190911 15 91504953 [C/G] NM_033544,NM_001017919 RCCD1,RCCD1 EXON Missense_G362A,Missense_G362A exm1190925 15 91512729 [A/C] NM_199413,NM_001267580,NM_003981,NR_051984 PRC1,PRC1,PRC1,LOC100507118 EXON Missense_L566R,Silent,Missense_L566R,Silent exm1190928 15 91512754 [A/C] NM_199413,NM_001267580,NM_003981,NR_051984 PRC1,PRC1,PRC1,LOC100507118 EXON Missense_G558C,Missense_A517S,Missense_G558C,Silent exm1190939 15 91513674 [T/C] NM_199413,NM_001267580,NM_003981,NR_051984 PRC1,PRC1,PRC1,LOC100507118 EXON Missense_Y511C,Missense_Y470C,Missense_Y511C,Silent exm1190946 15 91517435 [T/A] NM_199413,NM_001267580,NM_003981,NR_051984 PRC1,PRC1,PRC1,LOC100507118 EXON Nonsense_Y464X,Nonsense_Y423X,Nonsense_Y464X,Silent exm1190955 15 91517878 [T/C] NM_199413,NM_001267580,NM_003981,NR_051984 PRC1,PRC1,PRC1,LOC100507118 EXON Missense_M429I,Missense_M388I,Missense_M429I,Silent exm-rs8042680 15 91521337 [A/C] NM_199413,NM_001267580,NM_003981,NR_051984 PRC1,PRC1,PRC1,LOC100507118 Silent,Silent,Silent,Silent exm1190980 15 91524209 [T/G] NM_199413,NM_001267580,NM_003981,NR_051984 PRC1,PRC1,PRC1,LOC100507118 EXON Missense_I243L,Missense_I202L,Missense_I243L,Silent exm1190984 15 91524734 [A/G] NM_199413,NM_001267580,NM_003981,NR_051984 PRC1,PRC1,PRC1,LOC100507118 EXON Missense_R223W,Missense_R182W,Missense_R223W,Silent exm1190987 15 91524841 [T/G] NM_199413,NM_001267580,NM_003981,NR_051984 PRC1,PRC1,PRC1,LOC100507118 EXON Missense_A187E,Missense_A146E,Missense_A187E,Silent exm1190990 15 91524982 [C/G] NM_199413,NM_001267580,NM_003981,NR_051984 PRC1,PRC1,PRC1,LOC100507118 EXON Missense_T166R,Missense_T125R,Missense_T166R,Silent exm1190992 15 91525048 [G/C] NM_199413,NM_001267580,NM_003981,NR_051984 PRC1,PRC1,PRC1,LOC100507118 EXON Missense_S144T,Missense_S103T,Missense_S144T,Silent exm1190994 15 91525093 [T/C] NM_199413,NM_001267580,NM_003981,NR_051984 PRC1,PRC1,PRC1,LOC100507118 EXON Missense_Q129R,Missense_Q88R,Missense_Q129R,Silent exm1190999 15 91527262 [T/C] NM_199413,NM_001267580,NM_003981,NR_051984 PRC1,PRC1,PRC1,LOC100507118 EXON Missense_V85I,Silent,Missense_V85I,Silent exm1191006 15 91528006 [G/C] NM_199413,NM_001267580,NM_003981,NR_051984 PRC1,PRC1,PRC1,LOC100507118 EXON Missense_H21D,Missense_H21D,Missense_H21D,Silent exm1191027 15 91543131 [T/A] NM_018668 VPS33B EXON Synonymous_T552T exm1191035 15 91543800 [A/G] NM_018668 VPS33B EXON Missense_Y501H exm1191044 15 91545334 [T/C] NM_018668 VPS33B EXON Missense_T451A exm1191051 15 91545411 [T/C] NM_018668 VPS33B EXON Missense_S425N exm1191057 15 91548134 [T/C] NM_018668 VPS33B EXON Missense_M400V exm1191064 15 91548289 [T/C] NM_018668 VPS33B EXON Missense_R389Q exm1191065 15 91548307 [A/G] NM_018668 VPS33B EXON Missense_I383T exm1191074 15 91549010 [T/C] NM_018668 VPS33B EXON Missense_R315Q exm1191076 15 91549013 [T/C] NM_018668 VPS33B EXON Missense_R314H exm1191079 15 91549268 [T/C] NM_018668 VPS33B EXON Missense_E292K exm1191084 15 91549612 [G/C] NM_018668 VPS33B EXON Missense_A281G exm1191111 15 91557034 [T/C] NM_018668 VPS33B EXON Synonymous_K119K exm1191113 15 91557071 [T/C] NM_018668 VPS33B EXON Missense_R107Q exm1191130 15 91561076 [A/T] NM_018668 VPS33B EXON Missense_M46L exm1191131 15 91561079 [T/G] NM_018668 VPS33B EXON Missense_L45I exm2252382 15 91596017 [T/C] exm-rs886144 15 91717352 [T/C] NM_001167580,NM_014848 SV2B,SV2B Silent,Silent exm1191136 15 91769533 [A/G] NM_001167580,NM_014848 SV2B,SV2B EXON Silent,Missense_A14T exm1191146 15 91769716 [T/C] NM_001167580,NM_014848 SV2B,SV2B EXON Silent,Missense_R75W exm1191159 15 91795076 [T/C] NM_001167580,NM_014848 SV2B,SV2B EXON Missense_A9V,Missense_A160V exm1844562 15 91795124 [A/G] NM_001167580,NM_014848 SV2B,SV2B EXON Missense_R25Q,Missense_R176Q exm1191162 15 91795147 [A/G] NM_001167580,NM_014848 SV2B,SV2B EXON Missense_V33I,Missense_V184I exm1191171 15 91795601 [T/C] NM_001167580,NM_014848 SV2B,SV2B EXON Missense_I61T,Missense_I212T exm1191173 15 91795651 [T/C] NM_001167580,NM_014848 SV2B,SV2B EXON Missense_R78W,Missense_R229W exm1191183 15 91803598 [A/G] NM_001167580,NM_014848 SV2B,SV2B EXON Missense_T172A,Missense_T323A exm1191186 15 91803638 [T/C] NM_001167580,NM_014848 SV2B,SV2B EXON Missense_T185M,Missense_T336M exm1191190 15 91810815 [T/G] NM_001167580,NM_014848 SV2B,SV2B EXON Missense_G233W,Missense_G384W exm1191194 15 91810848 [A/G] NM_001167580,NM_014848 SV2B,SV2B EXON Missense_V244M,Missense_V395M exm2224075 15 91811709 [A/G] NM_001167580,NM_014848 SV2B,SV2B EXON Missense_R265H,Missense_R416H exm2252383 15 91811710 [T/C] NM_001167580,NM_014848 SV2B,SV2B EXON Synonymous_R265R,Synonymous_R416R exm1191207 15 91811774 [A/G] NM_001167580,NM_014848 SV2B,SV2B EXON Missense_A287T,Missense_A438T exm1191209 15 91811819 [A/G] NM_001167580,NM_014848 SV2B,SV2B EXON Missense_K302E,Missense_K453E exm1191216 15 91825047 [A/G] NM_001167580,NM_014848 SV2B,SV2B EXON Missense_Y337C,Missense_Y488C exm1191220 15 91827271 [A/G] NM_001167580,NM_014848 SV2B,SV2B EXON Missense_I359V,Missense_I510V exm2224076 15 91832816 [A/G] NM_001167580,NM_014848 SV2B,SV2B EXON Missense_M441V,Missense_M592V exm1191234 15 91832846 [T/A] NM_001167580,NM_014848 SV2B,SV2B EXON Missense_T451S,Missense_T602S exm1191237 15 91832897 [T/C] NM_001167580,NM_014848 SV2B,SV2B EXON Missense_P468S,Missense_P619S exm1844601 15 91835729 [A/G] NM_001167580,NM_014848 SV2B,SV2B EXON Missense_G516S,Missense_G667S exm2267806 15 92139237 [A/G] exm2267850 15 92261849 [A/G] exm-rs11631761 15 92301298 [A/G] exm-rs3924426 15 92445873 [T/C] NM_001145044,NM_013272 SLCO3A1,SLCO3A1 Silent,Silent exm1191262 15 92459303 [C/G] NM_001145044,NM_013272 SLCO3A1,SLCO3A1 EXON Missense_I87M,Missense_I87M exm2252385 15 92459474 [T/C] NM_001145044,NM_013272 SLCO3A1,SLCO3A1 EXON Synonymous_A144A,Synonymous_A144A exm1191276 15 92459551 [T/G] NM_001145044,NM_013272 SLCO3A1,SLCO3A1 EXON Missense_R170L,Missense_R170L exm-rs7495052 15 92552029 [T/C] NM_001145044,NM_013272 SLCO3A1,SLCO3A1 Silent,Silent exm2252386 15 92604461 [A/C] NM_001145044,NM_013272 SLCO3A1,SLCO3A1 Silent,Silent exm1191296 15 92647645 [C/G] NM_001145044,NM_013272 SLCO3A1,SLCO3A1 EXON Missense_E294D,Missense_E294D exm1191300 15 92647684 [A/C] NM_001145044,NM_013272 SLCO3A1,SLCO3A1 EXON Missense_R307S,Missense_R307S exm1191327 15 92690244 [A/G] NM_001145044,NM_013272 SLCO3A1,SLCO3A1 EXON Missense_V515I,Missense_V515I exm1191359 15 92706328 [A/C] NM_001145044,NM_013272 SLCO3A1,SLCO3A1 EXON Silent,Missense_D699A exm-rs3759917 15 92935447 [A/C] exm1191374 15 92973305 [G/C] NM_006011 ST8SIA2 EXON Missense_R42T exm1191379 15 92977496 [A/G] NM_006011 ST8SIA2 EXON Missense_G61S exm1191393 15 92981657 [T/C] NM_006011 ST8SIA2 EXON Missense_I122T exm1191425 15 93007443 [T/C] NM_006011 ST8SIA2 EXON Missense_P319L exm1191426 15 93007470 [A/G] NM_006011 ST8SIA2 EXON Missense_K328R exm1191430 15 93007504 [A/C] NM_006011 ST8SIA2 EXON Nonsense_Y339X exm1191435 15 93007597 [T/G] NM_006011 ST8SIA2 EXON Missense_Q370H exm1191438 15 93007607 [A/G] NM_006011 ST8SIA2 EXON Missense_A374T exm1844696 15 93015425 [T/C] NM_153040 C15orf32 EXON Missense_P16L exm1191446 15 93015427 [A/G] NM_153040 C15orf32 EXON Missense_A17T exm1191454 15 93015514 [A/T] NM_153040 C15orf32 EXON Missense_S46T exm1191458 15 93015633 [A/C] NM_153040 C15orf32 EXON Missense_L85F exm1191460 15 93015650 [A/G] NM_153040 C15orf32 EXON Missense_R91Q exm1191463 15 93015721 [A/G] NM_153040 C15orf32 EXON Missense_I115V exm-rs8040009 15 93044339 [T/C] NM_153040 C15orf32 EXON Silent exm-rs1455782 15 93050966 [A/G] exm2272279 15 93118504 [T/C] exm1191477 15 93162691 [T/C] NM_207446 FAM174B Silent exm1191486 15 93173517 [A/G] NM_207446 FAM174B EXON Nonsense_R135X exm1191492 15 93173573 [A/G] NM_207446 FAM174B EXON Missense_S116L exm-rs285757 15 93179175 [T/C] NM_207446 FAM174B Silent exm1191495 15 93198562 [C/G] NM_207446 FAM174B EXON Missense_L110V exm1191504 15 93198664 [T/C] NM_207446 FAM174B EXON Missense_A76T exm2267851 15 93246962 [A/G] exm1191533 15 93480826 [A/C] NM_001271,NM_001042572 CHD2,CHD2 EXON Missense_K174N,Missense_K174N exm1191535 15 93482864 [A/G] NM_001271,NM_001042572 CHD2,CHD2 EXON Missense_K203R,Missense_K203R exm1191548 15 93487683 [A/G] NM_001271,NM_001042572 CHD2,CHD2 EXON Missense_N364S,Missense_N364S exm1191552 15 93489283 [T/C] NM_001271,NM_001042572 CHD2,CHD2 EXON Missense_P405L,Missense_P405L exm1191609 15 93528890 [A/G] NM_001271 CHD2 EXON Missense_A1134T exm1191622 15 93543758 [A/G] NM_001271 CHD2 EXON Missense_R1342Q exm1191634 15 93545488 [A/T] NM_001271 CHD2 EXON Missense_S1407T exm1191657 15 93557954 [C/G] NM_001271 CHD2 EXON Missense_G1574A exm1191658 15 93557995 [T/C] NM_001271 CHD2 EXON Missense_R1588W exm1191659 15 93558040 [T/C] NM_001271 CHD2 EXON Missense_P1603S exm1191665 15 93563319 [T/C] NM_001271 CHD2 EXON Missense_H1662Y exm1191684 15 93567716 [C/G] NM_001271 CHD2 EXON Missense_Q1756H exm-rs12438714 15 93585975 [T/G] exm1191707 15 93588374 [T/G] NM_020211,NM_001166288,NM_001166286,NM_001166283,NM_001166289,NM_001166287 RGMA,RGMA,RGMA,RGMA,RGMA,RGMA EXON Missense_M403L,Missense_M387L,Missense_M387L,Missense_M411L,Missense_M387L,Missense_M387L exm1191714 15 93588542 [A/G] NM_020211,NM_001166288,NM_001166286,NM_001166283,NM_001166289,NM_001166287 RGMA,RGMA,RGMA,RGMA,RGMA,RGMA EXON Missense_P347S,Missense_P331S,Missense_P331S,Missense_P355S,Missense_P331S,Missense_P331S exm1191720 15 93588685 [A/T] NM_020211,NM_001166288,NM_001166286,NM_001166283,NM_001166289,NM_001166287 RGMA,RGMA,RGMA,RGMA,RGMA,RGMA EXON Missense_E299V,Missense_E283V,Missense_E283V,Missense_E307V,Missense_E283V,Missense_E283V exm1191722 15 93588697 [T/C] NM_020211,NM_001166288,NM_001166286,NM_001166283,NM_001166289,NM_001166287 RGMA,RGMA,RGMA,RGMA,RGMA,RGMA EXON Missense_R295H,Missense_R279H,Missense_R279H,Missense_R303H,Missense_R279H,Missense_R279H exm1191724 15 93588718 [T/C] NM_020211,NM_001166288,NM_001166286,NM_001166283,NM_001166289,NM_001166287 RGMA,RGMA,RGMA,RGMA,RGMA,RGMA EXON Missense_R288H,Missense_R272H,Missense_R272H,Missense_R296H,Missense_R272H,Missense_R272H exm1191753 15 93595605 [T/C] NM_020211,NM_001166288,NM_001166286,NM_001166283,NM_001166289,NM_001166287 RGMA,RGMA,RGMA,RGMA,RGMA,RGMA EXON Missense_R88Q,Missense_R72Q,Missense_R72Q,Missense_R96Q,Missense_R72Q,Missense_R72Q exm1844850 15 93595736 [A/G] NM_020211,NM_001166288,NM_001166286,NM_001166283,NM_001166289,NM_001166287 RGMA,RGMA,RGMA,RGMA,RGMA,RGMA EXON Synonymous_A44A,Synonymous_A28A,Synonymous_A28A,Synonymous_A52A,Synonymous_A28A,Synonymous_A28A exm1191767 15 93616975 [A/G] NM_020211,NM_001166283,NM_001166287 RGMA,RGMA,RGMA EXON Silent,Missense_L4P,Silent exm2267807 15 93925327 [A/G] exm-rs7174832 15 94036223 [T/G] exm-rs7175404 15 94036688 [A/G] exm2260497 15 94163700 [A/G] exm2252393 15 94570578 [T/C] exm1191776 15 94841430 [A/G] NM_001159643,NM_018349 MCTP2,MCTP2 EXON Silent,Silent exm1191783 15 94841610 [A/G] NM_001159643,NM_018349 MCTP2,MCTP2 EXON Missense_R39Q,Missense_R39Q exm1191786 15 94841631 [A/G] NM_001159643,NM_018349 MCTP2,MCTP2 EXON Missense_R46H,Missense_R46H exm1191787 15 94841634 [A/G] NM_001159643,NM_018349 MCTP2,MCTP2 EXON Missense_R47H,Missense_R47H exm1191789 15 94841672 [A/G] NM_001159643,NM_018349 MCTP2,MCTP2 EXON Missense_A60T,Missense_A60T exm1191791 15 94841691 [A/G] NM_001159643,NM_018349 MCTP2,MCTP2 EXON Missense_R66Q,Missense_R66Q exm1191792 15 94841702 [A/G] NM_001159643,NM_018349 MCTP2,MCTP2 EXON Missense_G70R,Missense_G70R exm1191796 15 94841736 [A/G] NM_001159643,NM_018349 MCTP2,MCTP2 EXON Missense_S81N,Missense_S81N exm1191801 15 94841861 [A/G] NM_001159643,NM_018349 MCTP2,MCTP2 EXON Missense_A123T,Missense_A123T exm1191802 15 94841862 [A/C] NM_001159643,NM_018349 MCTP2,MCTP2 EXON Missense_A123D,Missense_A123D exm2267808 15 94858686 [A/G] NM_001159643,NM_018349 MCTP2,MCTP2 Silent,Silent exm1191807 15 94858768 [A/C] NM_001159643,NM_018349 MCTP2,MCTP2 EXON Missense_E180A,Missense_E180A exm2224091 15 94858837 [A/G] NM_001159643,NM_018349 MCTP2,MCTP2 EXON Missense_G203D,Missense_G203D exm1191816 15 94858854 [T/C] NM_001159643,NM_018349 MCTP2,MCTP2 EXON Nonsense_R209X,Nonsense_R209X exm2272326 15 94865902 [T/G] NM_001159643,NM_018349 MCTP2,MCTP2 Silent,Silent exm1191823 15 94882578 [A/G] NM_001159643,NM_018349 MCTP2,MCTP2 EXON Missense_V233I,Missense_V233I exm1191824 15 94882585 [A/G] NM_001159643,NM_018349 MCTP2,MCTP2 EXON Missense_Y235C,Missense_Y235C exm1844894 15 94883428 [G/C] NM_001159643,NM_018349 MCTP2,MCTP2 EXON Missense_V261L,Missense_V261L exm1191842 15 94884106 [A/G] NM_001159643,NM_018349 MCTP2,MCTP2 EXON Missense_V308M,Missense_V308M exm1191847 15 94884153 [T/C] NM_001159643,NM_018349 MCTP2,MCTP2 EXON Synonymous_H323H,Synonymous_H323H exm1191857 15 94899388 [A/G] NM_001159643,NM_018349,NM_001159644 MCTP2,MCTP2,MCTP2 EXON Missense_R343Q,Missense_R343Q,Silent exm1191872 15 94910955 [A/G] NM_001159643,NM_018349,NM_001159644 MCTP2,MCTP2,MCTP2 EXON Missense_V475I,Missense_V475I,Missense_V63I exm-rs4984390 15 94939508 [A/G] NM_001159643,NM_018349,NM_001159644 MCTP2,MCTP2,MCTP2 Silent,Silent,Silent exm1191887 15 94942206 [T/C] NM_001159643,NM_018349,NM_001159644 MCTP2,MCTP2,MCTP2 EXON Missense_P602L,Missense_P602L,Missense_P190L exm1191889 15 94942244 [A/G] NM_001159643,NM_018349,NM_001159644 MCTP2,MCTP2,MCTP2 EXON Missense_A615T,Missense_A615T,Missense_A203T exm1191893 15 94943180 [T/C] NM_001159643,NM_018349,NM_001159644 MCTP2,MCTP2,MCTP2 EXON Missense_R641W,Missense_R641W,Missense_R229W exm1191897 15 94943208 [A/G] NM_001159643,NM_018349,NM_001159644 MCTP2,MCTP2,MCTP2 EXON Missense_R650H,Missense_R650H,Missense_R238H exm1844931 15 94945151 [A/G] NM_001159643,NM_018349,NM_001159644 MCTP2,MCTP2,MCTP2 EXON Missense_R663H,Missense_R663H,Missense_R251H exm1191907 15 94945246 [A/G] NM_001159643,NM_018349,NM_001159644 MCTP2,MCTP2,MCTP2 EXON Missense_A695T,Missense_A695T,Missense_A283T exm1191910 15 94945719 [T/G] NM_001159643,NM_018349,NM_001159644 MCTP2,MCTP2,MCTP2 EXON Silent,Silent,Missense_R285L exm1191917 15 94983475 [A/G] NM_001159643,NM_018349 MCTP2,MCTP2 EXON Silent,Missense_Y719C exm1191932 15 95019927 [T/A] NM_001159643,NM_018349 MCTP2,MCTP2 EXON Missense_I770L,Missense_I825L exm1191936 15 95019969 [A/G] NM_001159643,NM_018349 MCTP2,MCTP2 EXON Missense_D784N,Missense_D839N exm1191937 15 95019993 [T/C] NM_001159643,NM_018349 MCTP2,MCTP2 EXON Missense_L792F,Missense_L847F exm1191940 15 95022217 [T/C] NM_001159643,NM_018349 MCTP2,MCTP2 EXON Missense_L809P,Missense_L864P exm1191943 15 95022255 [A/G] NM_001159643,NM_018349 MCTP2,MCTP2 EXON Missense_A822T,Missense_A877T exm-rs1014922 15 95165580 [T/G] exm-rs7173947 15 95270467 [T/C] exm2272282 15 95378243 [T/C] exm-rs6496074 15 95511837 [A/G] exm-rs17733968 15 95678494 [T/C] exm2264584 15 95851885 [A/C] NR_034095 LOC400456 Silent exm2272283 15 95952841 [T/C] exm-rs933769 15 96052742 [T/C] exm-rs4321143 15 96156368 [A/G] exm-rs2567426 15 96332861 [A/G] exm2272284 15 96580586 [T/G] exm-rs2398162 15 96830550 [A/G] exm2252400 15 96856201 [T/G] exm2260501 15 96873212 [A/G] NM_001145155 NR2F2 Silent exm-rs4533251 15 97262427 [T/G] exm1191989 15 97327391 [T/C] NM_173499 SPATA8 EXON Missense_S33L exm1191990 15 97327393 [T/C] NM_173499 SPATA8 EXON Nonsense_R34X exm1191991 15 97327394 [A/G] NM_173499 SPATA8 EXON Missense_R34Q exm1191992 15 97327420 [A/C] NM_173499 SPATA8 EXON Missense_P43T exm1191994 15 97327469 [T/C] NM_173499 SPATA8 EXON Missense_P59L exm1191996 15 97327488 [A/G] NM_173499 SPATA8 EXON Synonymous_E65E exm1192000 15 97328267 [T/C] NM_173499 SPATA8 EXON Nonsense_R80X exm2252402 15 97500310 [T/G] exm2267854 15 97768422 [A/G] exm2267809 15 97874816 [A/G] exm2267810 15 98442226 [A/G] exm2272327 15 98490612 [T/C] exm2252405 15 98504151 [C/G] NM_183376 ARRDC4 EXON Synonymous_L20L exm1192025 15 98504164 [G/C] NM_183376 ARRDC4 EXON Missense_E25Q exm1845004 15 98504236 [T/C] NM_183376 ARRDC4 EXON Missense_P49S exm2252406 15 98504322 [T/C] NM_183376 ARRDC4 EXON Synonymous_A77A exm1192046 15 98509167 [G/C] NM_183376 ARRDC4 EXON Missense_Q139H exm1192047 15 98509193 [A/G] NM_183376 ARRDC4 EXON Missense_R148Q exm1192059 15 98512376 [A/G] NM_183376 ARRDC4 EXON Missense_E217K exm1192061 15 98512431 [T/C] NM_183376 ARRDC4 EXON Missense_T235M exm1845021 15 98513207 [C/G] NM_183376 ARRDC4 EXON Missense_S326C exm1192077 15 98513227 [A/G] NM_183376 ARRDC4 EXON Missense_S333G exm1192081 15 98513845 [T/C] NM_183376 ARRDC4 EXON Missense_S358P exm1192086 15 98513944 [T/C] NM_183376 ARRDC4 EXON Missense_R391W exm1192090 15 98514383 [T/G] NM_183376 ARRDC4 EXON Missense_V408G exm-rs4965121 15 98518792 [G/C] exm2272287 15 98768182 [T/C] exm1192115 15 98982931 [A/G] NM_182562 FAM169B EXON Missense_C170R exm1192121 15 98984362 [A/G] NM_182562 FAM169B EXON Missense_R133C exm1192123 15 98984367 [A/T] NM_182562 FAM169B EXON Missense_V131E exm1192124 15 98984368 [T/C] NM_182562 FAM169B EXON Missense_V131M exm1192125 15 98984369 [A/G] NM_182562 FAM169B EXON Synonymous_D130D exm1192129 15 98995065 [A/G] NM_182562 FAM169B EXON Missense_M120T exm1192136 15 98995194 [A/G] NM_182562 FAM169B EXON Missense_V77A exm1192139 15 99023829 [A/C] NM_182562 FAM169B EXON Missense_G62C exm1192148 15 99023975 [A/C] NM_182562 FAM169B EXON Missense_F13C exm1192163 15 99192826 [A/G] NM_000875 IGF1R EXON Missense_G6R exm-rs2871865 15 99194896 [C/G] NM_000875 IGF1R Silent exm2272328 15 99212485 [T/G] NM_000875 IGF1R Silent exm1192186 15 99251264 [T/C] NM_000875 IGF1R EXON Missense_P190S exm2252408 15 99284680 [A/G] NM_000875 IGF1R Silent exm1192202 15 99434763 [T/A] NM_000875 IGF1R EXON Missense_N284Y exm1192209 15 99434856 [A/G] NM_000875 IGF1R EXON Missense_G315S exm1192219 15 99442765 [A/G] NM_000875 IGF1R EXON Missense_V388M exm1192227 15 99451976 [A/G] NM_000875 IGF1R EXON Missense_R437H exm1192232 15 99452002 [A/G] NM_000875 IGF1R EXON Missense_M446V exm1192238 15 99454555 [A/G] NM_000875 IGF1R EXON Missense_V492I exm1192264 15 99456467 [A/G] NM_000875 IGF1R EXON Missense_R595H exm1192274 15 99459313 [A/G] NM_000875 IGF1R EXON Missense_R650Q exm1192277 15 99459327 [A/G] NM_000875 IGF1R EXON Missense_G655S exm1192278 15 99459340 [A/G] NM_000875 IGF1R EXON Missense_R659Q exm1192298 15 99467177 [T/C] NM_000875 IGF1R EXON Missense_P853L exm1192299 15 99467189 [A/G] NM_000875 IGF1R EXON Missense_N857S exm1192317 15 99472886 [A/G] NM_000875 IGF1R EXON Missense_K961R exm2224103 15 99500414 [A/G] NM_000875 IGF1R EXON Missense_E1283K exm1192356 15 99500555 [A/G] NM_000875 IGF1R EXON Missense_G1330S exm1192358 15 99500576 [T/C] NM_000875 IGF1R EXON Missense_R1337C exm1192359 15 99500588 [A/G] NM_000875 IGF1R EXON Missense_D1341N exm1192362 15 99500625 [A/G] NM_000875 IGF1R EXON Missense_R1353H exm1192364 15 99500636 [T/C] NM_000875 IGF1R EXON Missense_R1357W exm1192375 15 99511732 [A/G] NM_001102612,NM_001167902 PGPEP1L,PGPEP1L EXON Missense_M189T,Missense_M135T exm1192377 15 99511745 [C/G] NM_001102612,NM_001167902 PGPEP1L,PGPEP1L EXON Missense_E185Q,Missense_E131Q exm1192383 15 99511765 [T/C] NM_001102612,NM_001167902 PGPEP1L,PGPEP1L EXON Missense_K178R,Missense_K124R exm1192393 15 99511873 [A/G] NM_001102612,NM_001167902 PGPEP1L,PGPEP1L EXON Missense_A142V,Missense_A88V exm1192400 15 99512775 [T/C] NM_001102612,NM_001167902 PGPEP1L,PGPEP1L EXON Missense_E84K,Missense_E30K exm1192403 15 99512790 [A/G] NM_001102612,NM_001167902 PGPEP1L,PGPEP1L EXON Missense_R79C,Missense_R25C exm1845184 15 99512805 [A/G] NM_001102612,NM_001167902 PGPEP1L,PGPEP1L EXON Missense_R74W,Missense_R20W exm1192407 15 99512874 [T/C] NM_001102612,NM_001167902 PGPEP1L,PGPEP1L EXON Missense_V51M,Silent exm1192408 15 99512877 [T/C] NM_001102612,NM_001167902 PGPEP1L,PGPEP1L EXON Missense_V50I,Silent exm1192410 15 99514291 [A/C] NM_001102612,NM_001167902 PGPEP1L,PGPEP1L EXON Nonsense_G40X,Silent exm1192412 15 99514335 [A/G] NM_001102612,NM_001167902 PGPEP1L,PGPEP1L EXON Missense_L25P,Silent exm1192421 15 99645541 [T/C] NM_015286,NM_145728 SYNM,SYNM EXON Missense_R46W,Missense_R46W exm1192440 15 99646108 [A/G] NM_015286,NM_145728 SYNM,SYNM EXON Missense_R235G,Missense_R235G exm1192444 15 99646201 [T/C] NM_015286,NM_145728 SYNM,SYNM EXON Missense_P266S,Missense_P266S exm1192448 15 99653800 [T/C] NM_015286,NM_145728 SYNM,SYNM EXON Missense_X272R,Missense_X272R exm1192450 15 99653836 [T/C] NM_015286,NM_145728 SYNM,SYNM EXON Missense_P284S,Missense_P284S exm1192452 15 99653860 [A/G] NM_015286,NM_145728 SYNM,SYNM EXON Missense_G292R,Missense_G292R exm1192453 15 99653891 [T/C] NM_015286,NM_145728 SYNM,SYNM EXON Missense_P302L,Missense_P302L exm2252410 15 99666979 [A/G] NM_015286,NM_145728 SYNM,SYNM EXON Synonymous_T329T,Synonymous_T329T exm1192462 15 99669628 [A/T] NM_015286,NM_145728 SYNM,SYNM EXON Missense_K354N,Missense_K354N exm1192463 15 99669655 [A/C] NM_015286,NM_145728 SYNM,SYNM EXON Missense_H363Q,Missense_H363Q exm1192473 15 99669972 [T/C] NM_015286,NM_145728 SYNM,SYNM EXON Missense_A469V,Missense_A469V exm1192474 15 99670017 [A/G] NM_015286,NM_145728 SYNM,SYNM EXON Missense_R484Q,Missense_R484Q exm1192478 15 99670161 [T/C] NM_015286,NM_145728 SYNM,SYNM EXON Missense_P532L,Missense_P532L exm1192484 15 99670265 [T/C] NM_015286,NM_145728 SYNM,SYNM EXON Nonsense_R567X,Nonsense_R567X exm1192485 15 99670278 [T/C] NM_015286,NM_145728 SYNM,SYNM EXON Missense_A571V,Missense_A571V exm1192488 15 99670343 [T/C] NM_015286,NM_145728 SYNM,SYNM EXON Nonsense_R593X,Nonsense_R593X exm1192491 15 99670359 [A/G] NM_015286,NM_145728 SYNM,SYNM EXON Missense_R598H,Missense_R598H exm1192494 15 99670395 [A/G] NM_015286,NM_145728 SYNM,SYNM EXON Missense_R610K,Missense_R610K exm1192495 15 99670400 [A/C] NM_015286,NM_145728 SYNM,SYNM EXON Missense_K612Q,Missense_K612Q exm1192497 15 99670415 [A/G] NM_015286,NM_145728 SYNM,SYNM EXON Missense_G617S,Missense_G617S exm1192502 15 99670518 [T/C] NM_015286,NM_145728 SYNM,SYNM EXON Missense_L651P,Missense_L651P exm1192503 15 99670566 [A/G] NM_015286,NM_145728 SYNM,SYNM EXON Missense_K667R,Missense_K667R exm1192504 15 99670575 [T/C] NM_015286,NM_145728 SYNM,SYNM EXON Missense_T670M,Missense_T670M exm1192509 15 99670698 [T/C] NM_015286,NM_145728 SYNM,SYNM EXON Missense_I711T,Missense_I711T exm1192512 15 99670761 [T/C] NM_015286,NM_145728 SYNM,SYNM EXON Missense_S732L,Missense_S732L exm2252411 15 99670801 [A/G] NM_015286,NM_145728 SYNM,SYNM EXON Synonymous_T745T,Synonymous_T745T exm1192514 15 99670804 [A/G] NM_015286,NM_145728 SYNM,SYNM EXON Nonsense_W746X,Nonsense_W746X exm1192516 15 99670847 [T/C] NM_015286,NM_145728 SYNM,SYNM EXON Missense_R761W,Missense_R761W exm1192525 15 99670989 [T/C] NM_015286,NM_145728 SYNM,SYNM EXON Missense_L808P,Missense_L808P exm1192530 15 99671097 [A/G] NM_015286,NM_145728 SYNM,SYNM EXON Missense_E844G,Missense_E844G exm1192532 15 99671099 [T/A] NM_015286,NM_145728 SYNM,SYNM EXON Missense_M845L,Missense_M845L exm1192534 15 99671115 [T/C] NM_015286,NM_145728 SYNM,SYNM EXON Missense_T850M,Missense_T850M exm1192536 15 99671130 [T/C] NM_015286,NM_145728 SYNM,SYNM EXON Missense_S855L,Missense_S855L exm1192539 15 99671166 [T/C] NM_015286,NM_145728 SYNM,SYNM EXON Missense_M867T,Missense_M867T exm1192541 15 99671243 [T/C] NM_015286,NM_145728 SYNM,SYNM EXON Missense_S893P,Missense_S893P exm1192545 15 99671268 [T/C] NM_015286,NM_145728 SYNM,SYNM EXON Missense_T901I,Missense_T901I exm1192557 15 99671492 [A/G] NM_015286,NM_145728 SYNM,SYNM EXON Missense_R976G,Missense_R976G exm1192559 15 99671502 [A/G] NM_015286,NM_145728 SYNM,SYNM EXON Missense_R979Q,Missense_R979Q exm1192567 15 99671577 [T/C] NM_015286,NM_145728 SYNM,SYNM EXON Missense_T1004M,Missense_T1004M exm1192570 15 99671589 [T/C] NM_015286,NM_145728 SYNM,SYNM EXON Missense_L1008P,Missense_L1008P exm1192571 15 99671591 [T/C] NM_015286,NM_145728 SYNM,SYNM EXON Missense_W1009R,Missense_W1009R exm1192574 15 99671610 [T/C] NM_015286,NM_145728 SYNM,SYNM EXON Missense_T1015I,Missense_T1015I exm1192575 15 99671617 [T/G] NM_015286,NM_145728 SYNM,SYNM EXON Missense_R1017S,Missense_R1017S exm1192576 15 99671618 [T/A] NM_015286,NM_145728 SYNM,SYNM EXON Missense_S1018C,Missense_S1018C exm1192583 15 99671693 [A/G] NM_015286,NM_145728 SYNM,SYNM EXON Missense_A1043T,Missense_A1043T exm1192586 15 99671739 [T/C] NM_015286,NM_145728 SYNM,SYNM EXON Missense_P1058L,Missense_P1058L exm1192588 15 99671741 [T/C] NM_015286,NM_145728 SYNM,SYNM EXON Missense_R1059W,Missense_R1059W exm1192590 15 99671760 [T/C] NM_015286,NM_145728 SYNM,SYNM EXON Missense_L1065S,Missense_L1065S exm1192591 15 99671765 [G/C] NM_015286,NM_145728 SYNM,SYNM EXON Missense_V1067L,Missense_V1067L exm1192592 15 99671775 [T/C] NM_015286,NM_145728 SYNM,SYNM EXON Missense_P1070L,Missense_P1070L exm1192593 15 99671795 [T/C] NM_015286,NM_145728 SYNM,SYNM EXON Nonsense_Q1077X,Nonsense_Q1077X exm1192596 15 99671834 [T/C] NM_015286,NM_145728 SYNM,SYNM EXON Missense_R1090W,Missense_R1090W exm1192597 15 99671837 [A/G] NM_015286,NM_145728 SYNM,SYNM EXON Missense_D1091N,Missense_D1091N exm1192598 15 99671864 [T/C] NM_015286,NM_145728 SYNM,SYNM EXON Missense_R1100W,Missense_R1100W exm1192599 15 99671904 [G/C] NM_015286,NM_145728 SYNM,SYNM EXON Missense_S1113T,Missense_S1113T exm1192603 15 99671980 [A/C] NM_015286,NM_145728 SYNM,SYNM EXON Missense_S1138R,Missense_S1138R exm1192604 15 99671997 [A/G] NM_015286,NM_145728 SYNM,SYNM EXON Missense_D1144G,Missense_D1144G exm1192605 15 99672035 [A/G] NM_015286,NM_145728 SYNM,SYNM EXON Silent,Missense_T1157A exm1192607 15 99672071 [A/G] NM_015286,NM_145728 SYNM,SYNM EXON Silent,Missense_G1169S exm1192609 15 99672099 [T/C] NM_015286,NM_145728 SYNM,SYNM EXON Silent,Missense_P1178L exm1192611 15 99672138 [T/C] NM_015286,NM_145728 SYNM,SYNM EXON Silent,Missense_A1191V exm1192612 15 99672171 [A/G] NM_015286,NM_145728 SYNM,SYNM EXON Silent,Missense_R1202H exm1192618 15 99672348 [T/C] NM_015286,NM_145728 SYNM,SYNM EXON Silent,Missense_L1261P exm1192636 15 99672558 [T/C] NM_015286,NM_145728 SYNM,SYNM EXON Silent,Missense_P1331L exm1192644 15 99672722 [A/G] NM_015286,NM_145728 SYNM,SYNM EXON Silent,Missense_R1386G exm1192645 15 99672750 [A/G] NM_015286,NM_145728 SYNM,SYNM EXON Silent,Missense_R1395Q exm1192652 15 99672849 [A/G] NM_015286,NM_145728 SYNM,SYNM EXON Silent,Missense_C1428Y exm1192666 15 99673019 [C/G] NM_015286,NM_145728 SYNM,SYNM EXON Missense_L1173V,Missense_L1485V exm1192674 15 99673100 [A/G] NM_015286,NM_145728 SYNM,SYNM EXON Missense_E1200K,Missense_E1512K exm1192688 15 99678324 [T/C] NM_001040660,NM_001040656,NM_001040657,NM_022905,NM_001040659,NM_001040658,NM_001040655 TTC23,TTC23,TTC23,TTC23,TTC23,TTC23,TTC23 EXON Missense_K412R,Missense_K412R,Missense_K412R,Missense_K412R,Missense_K412R,Missense_K412R,Missense_K412R exm1192690 15 99679521 [C/G] NM_001040660,NM_001040656,NM_001040657,NM_022905,NM_001040659,NM_001040658,NM_001040655 TTC23,TTC23,TTC23,TTC23,TTC23,TTC23,TTC23 Silent,Silent,Silent,Silent,Silent,Silent,Silent exm1192695 15 99679573 [A/G] NM_001040660,NM_001040656,NM_001040657,NM_022905,NM_001040659,NM_001040658,NM_001040655 TTC23,TTC23,TTC23,TTC23,TTC23,TTC23,TTC23 EXON Missense_P392L,Missense_P392L,Missense_P392L,Missense_P392L,Missense_P392L,Missense_P392L,Missense_P392L exm1192704 15 99696352 [A/C] NM_001040660,NM_001040656,NM_001040657,NM_022905,NM_001040659,NM_001040658,NM_001040655 TTC23,TTC23,TTC23,TTC23,TTC23,TTC23,TTC23 Silent,Silent,Silent,Silent,Silent,Silent,Silent exm1192705 15 99696381 [T/C] NM_001040660,NM_001040656,NM_001040657,NM_022905,NM_001040659,NM_001040658,NM_001040655 TTC23,TTC23,TTC23,TTC23,TTC23,TTC23,TTC23 EXON Missense_H372R,Missense_H372R,Missense_H372R,Missense_H372R,Missense_H372R,Missense_H372R,Missense_H372R exm1845223 15 99696450 [A/C] NM_001040660,NM_001040656,NM_001040657,NM_022905,NM_001040659,NM_001040658,NM_001040655 TTC23,TTC23,TTC23,TTC23,TTC23,TTC23,TTC23 EXON Missense_G349V,Missense_G349V,Missense_G349V,Missense_G349V,Missense_G349V,Missense_G349V,Missense_G349V exm1192710 15 99696480 [T/G] NM_001040660,NM_001040656,NM_001040657,NM_022905,NM_001040659,NM_001040658,NM_001040655 TTC23,TTC23,TTC23,TTC23,TTC23,TTC23,TTC23 EXON Missense_E339A,Missense_E339A,Missense_E339A,Missense_E339A,Missense_E339A,Missense_E339A,Missense_E339A exm1192726 15 99740221 [T/C] NM_001040660,NM_001040656,NM_001040657,NM_022905,NM_001040659,NM_001040658,NM_001040655 TTC23,TTC23,TTC23,TTC23,TTC23,TTC23,TTC23 EXON Missense_G221D,Missense_G221D,Missense_G221D,Missense_G221D,Missense_G221D,Missense_G221D,Missense_G221D exm1192728 15 99740228 [T/C] NM_001040660,NM_001040656,NM_001040657,NM_022905,NM_001040659,NM_001040658,NM_001040655 TTC23,TTC23,TTC23,TTC23,TTC23,TTC23,TTC23 EXON Missense_S219G,Missense_S219G,Missense_S219G,Missense_S219G,Missense_S219G,Missense_S219G,Missense_S219G exm1192732 15 99758815 [G/C] NM_001040660,NM_001040656,NM_001040657,NM_022905,NM_001040659,NM_001040658,NM_001040655 TTC23,TTC23,TTC23,TTC23,TTC23,TTC23,TTC23 EXON Missense_R187G,Missense_R187G,Missense_R187G,Missense_R187G,Missense_R187G,Missense_R187G,Missense_R187G exm1192735 15 99758857 [T/A] NM_001040660,NM_001040656,NM_001040657,NM_022905,NM_001040659,NM_001040658,NM_001040655 TTC23,TTC23,TTC23,TTC23,TTC23,TTC23,TTC23 EXON Missense_C173S,Missense_C173S,Missense_C173S,Missense_C173S,Missense_C173S,Missense_C173S,Missense_C173S exm1192741 15 99759129 [T/C] NM_001040660,NM_001040656,NM_001040657,NM_022905,NM_001040659,NM_001040658,NM_001040655 TTC23,TTC23,TTC23,TTC23,TTC23,TTC23,TTC23 EXON Missense_M143I,Missense_M143I,Missense_M143I,Missense_M143I,Missense_M143I,Missense_M143I,Missense_M143I exm1192750 15 99759194 [T/C] NM_001040660,NM_001040656,NM_001040657,NM_022905,NM_001040659,NM_001040658,NM_001040655 TTC23,TTC23,TTC23,TTC23,TTC23,TTC23,TTC23 EXON Missense_I122V,Missense_I122V,Missense_I122V,Missense_I122V,Missense_I122V,Missense_I122V,Missense_I122V exm1192756 15 99762041 [T/C] NM_001040660,NM_001040656,NM_001040657,NM_022905,NM_001040659,NM_001040658,NM_001040655 TTC23,TTC23,TTC23,TTC23,TTC23,TTC23,TTC23 EXON Missense_R70H,Missense_R70H,Missense_R70H,Missense_R70H,Missense_R70H,Missense_R70H,Missense_R70H exm1192760 15 99762070 [T/C] NM_001040660,NM_001040656,NM_001040657,NM_022905,NM_001040659,NM_001040658,NM_001040655 TTC23,TTC23,TTC23,TTC23,TTC23,TTC23,TTC23 Silent,Silent,Silent,Silent,Silent,Silent,Silent exm2267812 15 99764859 [A/G] NM_001040660,NM_001040656,NM_001040657,NM_022905,NM_001040659,NM_001040658,NM_001040655 TTC23,TTC23,TTC23,TTC23,TTC23,TTC23,TTC23 Silent,Silent,Silent,Silent,Silent,Silent,Silent exm1192765 15 99768839 [T/C] NM_001040660,NM_001040656,NM_001040657,NM_022905,NM_001040659,NM_001040658,NM_001040655 TTC23,TTC23,TTC23,TTC23,TTC23,TTC23,TTC23 EXON Missense_K27E,Missense_K27E,Missense_K27E,Missense_K27E,Missense_K27E,Missense_K27E,Missense_K27E exm1192768 15 99768877 [T/C] NM_001040660,NM_001040656,NM_001040657,NM_022905,NM_001040659,NM_001040658,NM_001040655 TTC23,TTC23,TTC23,TTC23,TTC23,TTC23,TTC23 EXON Missense_D14G,Missense_D14G,Missense_D14G,Missense_D14G,Missense_D14G,Missense_D14G,Missense_D14G exm1192773 15 99796185 [T/C] NM_144598 LRRC28 EXON Missense_T8M exm1192788 15 99827467 [T/G] NM_144598 LRRC28 EXON Missense_L72R exm1192792 15 99828097 [A/G] NM_144598 LRRC28 EXON Missense_R109H exm1192794 15 99828111 [T/C] NM_144598 LRRC28 EXON Missense_R114C exm1192802 15 99874238 [T/C] NM_144598 LRRC28 EXON Nonsense_R166X exm1192803 15 99874245 [A/G] NM_144598 LRRC28 EXON Missense_R168H exm1192804 15 99874314 [A/G] NM_144598 LRRC28 EXON Missense_R191H exm1192814 15 99901566 [A/G] NM_144598 LRRC28 EXON Missense_E241K exm1192817 15 99901629 [A/G] NM_144598 LRRC28 EXON Missense_A262T exm1192818 15 99901632 [A/G] NM_144598 LRRC28 EXON Missense_I263V exm1192830 15 99926240 [T/C] NM_144598 LRRC28 EXON Missense_T346I exm1192831 15 99926242 [A/G] NM_144598 LRRC28 EXON Missense_T347A exm2264585 15 100015648 [A/C] exm2252035 15 100048722 [A/C] exm1192850 15 100211846 [A/G] NM_005587,NM_001130927,NM_001130926,NM_001171894,NM_001130928 MEF2A,MEF2A,MEF2A,MEF2A,MEF2A EXON Missense_R127Q,Silent,Silent,Silent,Silent exm1192857 15 100214718 [A/G] NM_005587,NM_001130927,NM_001130926,NM_001171894,NM_001130928 MEF2A,MEF2A,MEF2A,MEF2A,MEF2A EXON Missense_T173A,Missense_T103A,Missense_T171A,Missense_T171A,Missense_T103A exm1192868 15 100230557 [A/G] NM_005587,NM_001130927,NM_001130926,NM_001171894,NM_001130928 MEF2A,MEF2A,MEF2A,MEF2A,MEF2A EXON Missense_N263S,Missense_N193S,Missense_N261S,Missense_N261S,Missense_N193S exm1192870 15 100230605 [T/C] NM_005587,NM_001130927,NM_001130926,NM_001171894,NM_001130928 MEF2A,MEF2A,MEF2A,MEF2A,MEF2A EXON Missense_P279L,Missense_P209L,Missense_P277L,Missense_P277L,Missense_P209L exm1192886 15 100252595 [T/C] NM_005587,NM_001130927,NM_001130926,NM_001171894,NM_001130928 MEF2A,MEF2A,MEF2A,MEF2A,MEF2A EXON Synonymous_V373V,Synonymous_V311V,Synonymous_V371V,Synonymous_V371V,Synonymous_V303V exm1192906 15 100252893 [A/G] NM_005587,NM_001130927,NM_001130926,NM_001171894,NM_001130928 MEF2A,MEF2A,MEF2A,MEF2A,MEF2A EXON Missense_I473V,Missense_I411V,Missense_I471V,Missense_I471V,Missense_I403V exm1192912 15 100269341 [T/C] NM_152449 LYSMD4 EXON Missense_Q294R exm1192914 15 100269365 [T/G] NM_152449 LYSMD4 EXON Missense_D286A exm1192916 15 100269401 [A/C] NM_152449 LYSMD4 EXON Missense_R274I exm1192919 15 100269443 [A/T] NM_152449 LYSMD4 EXON Missense_N260I exm1192923 15 100269596 [A/G] NM_152449 LYSMD4 EXON Missense_P209L exm1192926 15 100269614 [A/G] NM_152449 LYSMD4 EXON Missense_P203L exm1192928 15 100269635 [G/C] NM_152449 LYSMD4 EXON Missense_T196S exm1192929 15 100269654 [C/G] NM_152449 LYSMD4 EXON Missense_E190Q exm1192930 15 100269680 [C/G] NM_152449 LYSMD4 EXON Missense_A181G exm1192931 15 100269683 [T/C] NM_152449 LYSMD4 EXON Missense_R180H exm1192935 15 100269737 [A/G] NM_152449 LYSMD4 EXON Missense_A162V exm1192937 15 100269749 [A/G] NM_152449 LYSMD4 EXON Missense_A158V exm1192944 15 100269851 [A/T] NM_152449 LYSMD4 EXON Missense_H124L exm1192946 15 100269869 [T/A] NM_152449 LYSMD4 EXON Missense_K118M exm1192950 15 100271379 [T/G] NM_152449 LYSMD4 EXON Missense_K95T exm1192953 15 100271592 [A/G] NM_152449 LYSMD4 EXON Missense_T77I exm1192962 15 100271946 [C/G] NM_152449 LYSMD4 EXON Missense_S57R exm1192967 15 100272022 [A/G] NM_152449 LYSMD4 EXON Missense_T32I exm1192973 15 100272109 [A/G] NM_152449 LYSMD4 EXON Missense_V3A exm1193285 15 100514614 [T/C] NM_139057 ADAMTS17 EXON Missense_N1094S exm1193287 15 100514620 [A/G] NM_139057 ADAMTS17 EXON Missense_P1092L exm1193295 15 100514692 [T/G] NM_139057 ADAMTS17 EXON Missense_Q1068P exm1193302 15 100516256 [A/G] NM_139057 ADAMTS17 EXON Missense_R1041C exm1193307 15 100516333 [A/G] NM_139057 ADAMTS17 EXON Missense_S1015L exm1193310 15 100516360 [T/C] NM_139057 ADAMTS17 EXON Missense_R1006H exm2267813 15 100516472 [A/G] NM_139057 ADAMTS17 Silent exm1193318 15 100533254 [A/G] NM_139057 ADAMTS17 EXON Missense_T983M exm-rs12900132 15 100537494 [T/C] NM_139057 ADAMTS17 Silent exm1193331 15 100537618 [G/C] NM_139057 ADAMTS17 EXON Missense_S923C exm1193341 15 100537693 [A/G] NM_139057 ADAMTS17 EXON Missense_V898A exm2260399 15 100572954 [A/G] NM_139057 ADAMTS17 Silent exm1193353 15 100589063 [A/G] NM_139057 ADAMTS17 EXON Missense_R864W exm1193356 15 100589092 [T/C] NM_139057 ADAMTS17 EXON Missense_R854Q exm1193365 15 100589191 [T/C] NM_139057 ADAMTS17 EXON Missense_R821H exm1193368 15 100591794 [C/G] NM_139057 ADAMTS17 EXON Missense_S813T exm1193371 15 100591855 [T/C] NM_139057 ADAMTS17 EXON Missense_E793K exm1193374 15 100591884 [A/G] NM_139057 ADAMTS17 EXON Missense_P783L exm1193379 15 100594212 [T/C] NM_139057 ADAMTS17 EXON Missense_E729K exm1193380 15 100594226 [T/C] NM_139057 ADAMTS17 EXON Missense_S724N exm1193382 15 100594242 [T/C] NM_139057 ADAMTS17 EXON Missense_K719E exm1193383 15 100594247 [A/G] NM_139057 ADAMTS17 EXON Missense_S717L exm1193408 15 100649289 [T/C] NM_139057 ADAMTS17 EXON Missense_G641R exm1193412 15 100649321 [T/C] NM_139057 ADAMTS17 EXON Missense_D630G exm1193415 15 100657053 [A/G] NM_139057 ADAMTS17 EXON Synonymous_D629D exm1824317 15 100657099 [C/G] NM_139057 ADAMTS17 EXON Missense_R614P exm1193430 15 100672251 [A/G] NM_139057 ADAMTS17 EXON Missense_T561M exm1193432 15 100672282 [T/C] NM_139057 ADAMTS17 EXON Missense_A551T exm-rs4246302 15 100687967 [A/G] NM_139057 ADAMTS17 Silent exm1193451 15 100692845 [A/G] NM_139057 ADAMTS17 EXON Missense_M482T exm1193459 15 100692905 [A/G] NM_139057 ADAMTS17 EXON Missense_P462L exm1193460 15 100692911 [T/C] NM_139057 ADAMTS17 EXON Missense_R460H exm1193462 15 100692953 [A/G] NM_139057 ADAMTS17 EXON Missense_T446I exm1193465 15 100695385 [T/C] NM_139057 ADAMTS17 EXON Missense_K441R exm1193466 15 100695390 [T/G] NM_139057 ADAMTS17 EXON Missense_F439L exm1193467 15 100695419 [A/G] NM_139057 ADAMTS17 EXON Missense_S430P exm1193468 15 100695487 [C/G] NM_139057 ADAMTS17 EXON Missense_A407G exm-rs4533267 15 100786271 [A/G] NM_139057 ADAMTS17 Silent exm1193490 15 100801760 [A/G] NM_139057 ADAMTS17 EXON Nonsense_R319X exm1193497 15 100802557 [A/G] NM_139057 ADAMTS17 EXON Synonymous_P291P exm1193509 15 100821472 [T/C] NM_139057 ADAMTS17 EXON Missense_E251K exm1193520 15 100821576 [A/G] NM_139057 ADAMTS17 EXON Missense_S216L exm2272288 15 100843884 [T/C] NM_139057 ADAMTS17 Silent exm1193525 15 100871162 [T/C] NM_139057 ADAMTS17 EXON Missense_K183R exm1193528 15 100871168 [T/C] NM_139057 ADAMTS17 EXON Missense_R181K exm1193533 15 100871245 [G/C] NM_139057 ADAMTS17 EXON Missense_Q155H exm1193547 15 100942952 [T/C] NM_178842 CERS3 EXON Missense_R373K exm1193549 15 100942962 [T/C] NM_178842 CERS3 EXON Missense_R370G exm1193551 15 100942968 [T/C] NM_178842 CERS3 EXON Missense_G368S exm1193555 15 100943045 [T/C] NM_178842 CERS3 EXON Missense_D342G exm1824379 15 101009643 [T/G] NM_178842 CERS3 EXON Missense_T262N exm1193573 15 101013158 [A/C] NM_178842 CERS3 EXON Missense_V237L exm1193576 15 101013221 [T/C] NM_178842 CERS3 EXON Missense_I216V exm1193590 15 101024836 [A/G] NM_178842 CERS3 EXON Missense_T109M exm1193592 15 101024873 [T/G] NM_178842 CERS3 EXON Missense_T97P exm1193594 15 101031072 [T/C] NM_178842 CERS3 EXON Missense_N80D exm1193596 15 101031132 [T/C] NM_178842 CERS3 EXON Missense_V60I exm1193603 15 101041964 [G/C] NM_178842 CERS3 EXON Missense_L31V exm1193618 15 101109598 [T/C] NM_001040616 LINS EXON Missense_G707R exm2223010 15 101109621 [C/G] NM_001040616 LINS EXON Missense_P699R exm1193622 15 101109677 [A/C] NM_001040616 LINS EXON Missense_R680S exm1193624 15 101109690 [T/C] NM_001040616 LINS EXON Missense_E676G exm1193627 15 101109777 [T/C] NM_001040616 LINS EXON Missense_S647N exm1193629 15 101109794 [G/C] NM_001040616 LINS EXON Missense_E641D exm1193631 15 101109829 [T/C] NM_001040616 LINS EXON Missense_D630N exm1193637 15 101109904 [T/C] NM_001040616 LINS EXON Missense_M605V exm1824406 15 101110078 [T/C] NM_001040616 LINS EXON Missense_A547T exm1193642 15 101110089 [T/C] NM_001040616 LINS EXON Missense_N543S exm1193643 15 101110096 [T/C] NM_001040616 LINS EXON Missense_I541V exm1193645 15 101110212 [A/G] NM_001040616 LINS EXON Missense_I502T exm1193651 15 101110302 [G/C] NM_001040616 LINS EXON Missense_S472T exm1193652 15 101110303 [T/C] NM_001040616 LINS EXON Missense_S472G exm1193664 15 101113862 [T/C] NM_001040616 LINS EXON Missense_V406M exm1193671 15 101113954 [A/G] NM_001040616 LINS EXON Missense_T375I exm1193676 15 101114086 [A/G] NM_001040616 LINS EXON Missense_A331V exm1193684 15 101114360 [A/G] NM_001040616 LINS EXON Missense_R240W exm1193693 15 101115269 [T/C] NM_001040616 LINS EXON Missense_N185S exm1193696 15 101120539 [T/A] NM_001040616 LINS EXON Missense_S140T exm1824431 15 101120762 [T/C] NM_001040616 LINS EXON Missense_I96V exm1193703 15 101120837 [T/C] NM_001040616 LINS EXON Missense_V71I exm1193705 15 101120876 [T/C] NM_001040616 LINS EXON Missense_R58G exm1193708 15 101120914 [A/G] NM_001040616 LINS EXON Missense_T45I exm1193711 15 101120963 [T/C] NM_001040616 LINS EXON Missense_I29V exm1193712 15 101120996 [T/C] NM_001040616 LINS EXON Missense_G18R exm1193720 15 101169643 [T/C] NM_024708,NM_198243 ASB7,ASB7 EXON Synonymous_A71A,Synonymous_A71A exm2252039 15 101169796 [T/C] NM_024708,NM_198243 ASB7,ASB7 EXON Synonymous_H122H,Synonymous_H122H exm-rs11247229 15 101195178 [T/C] exm1193747 15 101420155 [A/G] NM_000693 ALDH1A3 EXON Missense_R15G exm1193748 15 101425495 [C/G] NM_000693 ALDH1A3 EXON Missense_H41Q exm1193768 15 101433161 [A/G] NM_000693 ALDH1A3 EXON Missense_V163M exm1193799 15 101445746 [A/G] NM_000693 ALDH1A3 EXON Missense_D363N exm1193803 15 101445815 [A/G] NM_000693 ALDH1A3 EXON Missense_M386V exm1193810 15 101447398 [A/G] NM_000693 ALDH1A3 EXON Missense_D436N exm1193811 15 101447441 [A/G] NM_000693 ALDH1A3 EXON Missense_K450R exm1193818 15 101448629 [A/G] NM_000693 ALDH1A3 EXON Missense_A470T exm1193832 15 101464847 [A/G] NM_024652 LRRK1 EXON Missense_M4V exm1193835 15 101464887 [T/C] NM_024652 LRRK1 EXON Missense_P17L exm1193853 15 101523794 [A/G] NM_024652 LRRK1 EXON Missense_S108N exm1193860 15 101523869 [T/C] NM_024652 LRRK1 EXON Missense_T133M exm1193862 15 101523881 [A/G] NM_024652 LRRK1 EXON Missense_Q137R exm1193868 15 101528929 [T/C] NM_024652 LRRK1 EXON Missense_T175M exm1193876 15 101529012 [A/G] NM_024652 LRRK1 EXON Missense_K203E exm1193878 15 101529511 [A/G] NM_024652 LRRK1 EXON Missense_I224V exm1193879 15 101529562 [A/C] NM_024652 LRRK1 EXON Missense_I241L exm2272289 15 101546195 [T/C] NM_024652 LRRK1 Silent exm1193883 15 101549193 [A/G] NM_024652 LRRK1 EXON Missense_R305Q exm1193886 15 101549251 [C/G] NM_024652 LRRK1 EXON Missense_D324E exm1193902 15 101550894 [G/C] NM_024652 LRRK1 EXON Missense_G378A exm1193905 15 101551007 [A/C] NM_024652 LRRK1 EXON Missense_L416M exm1193907 15 101552312 [A/G] NM_024652 LRRK1 EXON Missense_A461T exm1193917 15 101555589 [C/G] NM_024652 LRRK1 EXON Missense_R531G exm1193919 15 101561275 [T/C] NM_024652 LRRK1 EXON Missense_P543S exm1193929 15 101562068 [T/G] NM_024652 LRRK1 EXON Missense_E586D exm1193931 15 101562626 [T/C] NM_024652 LRRK1 EXON Missense_R631W exm1193943 15 101565029 [A/G] NM_024652 LRRK1 EXON Missense_V697I exm1193947 15 101565101 [A/G] NM_024652 LRRK1 EXON Missense_V721M exm1193954 15 101566188 [A/G] NM_024652 LRRK1 EXON Missense_V751M exm1193957 15 101566249 [T/C] NM_024652 LRRK1 EXON Missense_I771T exm1193966 15 101567500 [A/G] NM_024652 LRRK1 EXON Missense_G814R exm2252040 15 101567523 [T/C] NM_024652 LRRK1 EXON Synonymous_H821H exm1193969 15 101567545 [A/G] NM_024652 LRRK1 EXON Missense_V829M exm1193975 15 101567895 [A/G] NM_024652 LRRK1 EXON Missense_R860H exm1193980 15 101567912 [A/G] NM_024652 LRRK1 EXON Missense_D866N exm1193990 15 101569374 [T/C] NM_024652 LRRK1 EXON Missense_T967M exm2252041 15 101569375 [A/G] NM_024652 LRRK1 EXON Synonymous_T967T exm1193993 15 101569396 [C/G] NM_024652 LRRK1 EXON Missense_F974L exm1194000 15 101569431 [A/G] NM_024652 LRRK1 EXON Missense_N986S exm2223019 15 101588814 [T/C] NM_024652 LRRK1 EXON Missense_I1084T exm1194025 15 101591917 [A/C] NM_024652 LRRK1 EXON Synonymous_A1147A exm1194034 15 101592113 [A/G] NM_024652 LRRK1 EXON Missense_V1213M exm1194047 15 101593219 [A/G] NM_024652 LRRK1 EXON Missense_R1261Q exm1194048 15 101593249 [A/G] NM_024652 LRRK1 EXON Missense_R1271H exm1194056 15 101593619 [A/G] NM_024652 LRRK1 EXON Missense_A1350T exm1194076 15 101597188 [T/C] NM_024652 LRRK1 EXON Missense_P1487L exm1194105 15 101605741 [A/G] NM_024652 LRRK1 EXON Missense_N1700S exm1194107 15 101605746 [A/G] NM_024652 LRRK1 EXON Missense_G1702S exm2223021 15 101605845 [A/G] NM_024652 LRRK1 EXON Missense_M1735V exm1194116 15 101605963 [A/G] NM_024652 LRRK1 EXON Missense_R1774Q exm2223023 15 101605978 [T/A] NM_024652 LRRK1 EXON Missense_V1779D exm1194119 15 101606029 [A/C] NM_024652 LRRK1 EXON Missense_P1796H exm1194122 15 101606082 [A/G] NM_024652 LRRK1 EXON Missense_A1814T exm1194127 15 101606145 [T/C] NM_024652 LRRK1 EXON Missense_L1835F exm1194128 15 101606179 [T/C] NM_024652 LRRK1 EXON Missense_S1846L exm1194129 15 101606190 [T/C] NM_024652 LRRK1 EXON Missense_R1850C exm2223024 15 101606215 [A/G] NM_024652 LRRK1 EXON Missense_S1858N exm1824582 15 101606290 [T/C] NM_024652 LRRK1 EXON Missense_T1883M exm1194141 15 101606864 [A/G] NM_024652 LRRK1 EXON Missense_V1930I exm1194142 15 101606889 [A/G] NM_024652 LRRK1 EXON Missense_G1938D exm1194144 15 101606897 [T/C] NM_024652 LRRK1 EXON Missense_R1941W exm1194152 15 101608958 [A/G] NM_024652 LRRK1 EXON Missense_V1985I exm2223026 15 101609009 [A/G] NM_024652 LRRK1 EXON Missense_E2002K exm2252042 15 101717599 [T/C] NM_014918 CHSY1 EXON Synonymous_T801T exm1194159 15 101717599 [T/C] NM_014918 CHSY1 EXON Synonymous_T801T exm1194160 15 101717607 [A/C] NM_014918 CHSY1 EXON Missense_V799L exm1194168 15 101717888 [T/C] NM_014918 CHSY1 EXON Missense_R705Q exm1194170 15 101717910 [T/C] NM_014918 CHSY1 EXON Missense_I698V exm1194175 15 101718045 [C/G] NM_014918 CHSY1 EXON Missense_Q653E exm1824593 15 101718209 [A/T] NM_014918 CHSY1 EXON Missense_D598V exm1194184 15 101718230 [T/C] NM_014918 CHSY1 EXON Missense_R591H exm1194185 15 101718239 [C/G] NM_014918 CHSY1 EXON Missense_R588T exm1194199 15 101718557 [A/G] NM_014918 CHSY1 EXON Missense_F482S exm1194202 15 101718677 [A/G] NM_014918 CHSY1 EXON Missense_M442T exm1194205 15 101718773 [A/G] NM_014918 CHSY1 EXON Missense_M410T exm1194215 15 101718927 [A/G] NM_014918 CHSY1 EXON Missense_P359S exm1194216 15 101718950 [T/C] NM_014918 CHSY1 EXON Missense_K351R exm1194239 15 101775405 [T/C] NM_014918 CHSY1 EXON Missense_R233Q exm1194288 15 101814816 [A/C] NM_203472,NM_018445 VIMP,VIMP EXON Missense_G130V,Missense_G130V exm1194293 15 101814864 [T/C] NM_203472,NM_018445 VIMP,VIMP EXON Missense_Q114R,Missense_Q114R exm1194303 15 101816827 [G/C] NM_203472,NM_018445 VIMP,VIMP EXON Missense_L44V,Missense_L44V exm1194304 15 101816848 [T/C] NM_203472,NM_018445 VIMP,VIMP EXON Missense_I37V,Missense_I37V exm1194317 15 101825962 [G/C] NM_003090 SNRPA1 EXON Missense_G195A exm1194318 15 101826001 [T/C] NM_003090 SNRPA1 EXON Missense_N182S exm1194330 15 101832180 [T/C] NM_003090 SNRPA1 EXON Missense_S99N exm2252044 15 101832230 [T/C] NM_003090 SNRPA1 EXON Synonymous_G82G exm1194338 15 101833366 [A/G] NM_003090 SNRPA1 EXON Missense_P32S exm2260401 15 101837572 [A/G] exm1194340 15 101845469 [A/G] NM_002570,NM_138319 PCSK6,PCSK6 EXON Missense_R968W,Missense_R955W exm2252045 15 101845482 [A/G] NM_002570,NM_138319 PCSK6,PCSK6 EXON Synonymous_H963H,Synonymous_H950H exm1194344 15 101845517 [A/G] NM_002570,NM_138319 PCSK6,PCSK6 EXON Nonsense_R952X,Nonsense_R939X exm1194347 15 101845556 [A/G] NM_002570,NM_138319 PCSK6,PCSK6 EXON Nonsense_R939X,Nonsense_R926X exm1194364 15 101853423 [A/G] NM_002570,NM_138319,NM_138320,NM_138321 PCSK6,PCSK6,PCSK6,PCSK6 EXON Silent,Silent,Missense_S952L,Missense_S939L exm1194366 15 101853490 [A/G] NM_002570,NM_138319,NM_138320,NM_138321 PCSK6,PCSK6,PCSK6,PCSK6 EXON Silent,Silent,Missense_R930W,Missense_R917W exm1194368 15 101853521 [G/C] NM_002570,NM_138319,NM_138320,NM_138321 PCSK6,PCSK6,PCSK6,PCSK6 EXON Silent,Silent,Missense_R919S,Missense_R906S exm1824638 15 101853558 [A/G] NM_002570,NM_138319,NM_138320,NM_138321 PCSK6,PCSK6,PCSK6,PCSK6 EXON Silent,Silent,Missense_T907M,Missense_T894M exm1194371 15 101853577 [A/G] NM_002570,NM_138319,NM_138320,NM_138321 PCSK6,PCSK6,PCSK6,PCSK6 EXON Silent,Silent,Missense_R901W,Missense_R888W exm1194376 15 101858536 [T/C] NM_002570,NM_138319,NM_138320,NM_138321 PCSK6,PCSK6,PCSK6,PCSK6 EXON Missense_R852Q,Missense_R839Q,Missense_R852Q,Missense_R839Q exm1824641 15 101862744 [G/C] NM_002570,NM_138319,NM_138320,NM_138321 PCSK6,PCSK6,PCSK6,PCSK6 EXON Missense_C815S,Missense_C802S,Missense_C815S,Missense_C802S exm1194377 15 101862775 [T/C] NM_002570,NM_138319,NM_138320,NM_138321 PCSK6,PCSK6,PCSK6,PCSK6 EXON Missense_K805E,Missense_K792E,Missense_K805E,Missense_K792E exm2252046 15 101865126 [T/C] NM_002570,NM_138319,NM_138320,NM_138321 PCSK6,PCSK6,PCSK6,PCSK6 EXON Synonymous_P768P,Synonymous_P755P,Synonymous_P768P,Synonymous_P755P exm1194383 15 101865126 [T/C] NM_002570,NM_138319,NM_138320,NM_138321 PCSK6,PCSK6,PCSK6,PCSK6 EXON Synonymous_P768P,Synonymous_P755P,Synonymous_P768P,Synonymous_P755P exm1194386 15 101865149 [T/C] NM_002570,NM_138319,NM_138320,NM_138321 PCSK6,PCSK6,PCSK6,PCSK6 EXON Missense_D761N,Missense_D748N,Missense_D761N,Missense_D748N exm1194391 15 101865199 [A/G] NM_002570,NM_138319,NM_138320,NM_138321 PCSK6,PCSK6,PCSK6,PCSK6 EXON Missense_T744M,Missense_T731M,Missense_T744M,Missense_T731M exm1194394 15 101866596 [A/G] NM_002570,NM_138319,NM_138320,NM_138321 PCSK6,PCSK6,PCSK6,PCSK6 EXON Missense_C722R,Missense_C709R,Missense_C722R,Missense_C709R exm1824653 15 101872187 [T/C] NM_002570,NM_138319,NM_138320,NM_138321 PCSK6,PCSK6,PCSK6,PCSK6 EXON Missense_V636I,Missense_V636I,Missense_V636I,Missense_V636I exm-rs11855415 15 101875123 [T/A] NM_002570,NM_138319,NM_138320,NM_138321 PCSK6,PCSK6,PCSK6,PCSK6 Silent,Silent,Silent,Silent exm1194418 15 101905170 [T/C] NM_002570,NM_138319,NM_138320,NM_138321,NM_138323,NM_138324,NM_138325 PCSK6,PCSK6,PCSK6,PCSK6,PCSK6,PCSK6,PCSK6 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_V646I exm1194420 15 101905203 [T/C] NM_002570,NM_138319,NM_138320,NM_138321,NM_138323,NM_138324,NM_138325 PCSK6,PCSK6,PCSK6,PCSK6,PCSK6,PCSK6,PCSK6 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_V635I exm2252048 15 101906520 [T/C] NM_002570,NM_138319,NM_138320,NM_138321,NM_138323,NM_138324,NM_138325 PCSK6,PCSK6,PCSK6,PCSK6,PCSK6,PCSK6,PCSK6 EXON Synonymous_Q579Q,Synonymous_Q579Q,Synonymous_Q579Q,Synonymous_Q579Q,Synonymous_Q579Q,Synonymous_Q579Q,Synonymous_Q579Q exm1194427 15 101906520 [T/C] NM_002570,NM_138319,NM_138320,NM_138321,NM_138323,NM_138324,NM_138325 PCSK6,PCSK6,PCSK6,PCSK6,PCSK6,PCSK6,PCSK6 EXON Synonymous_Q579Q,Synonymous_Q579Q,Synonymous_Q579Q,Synonymous_Q579Q,Synonymous_Q579Q,Synonymous_Q579Q,Synonymous_Q579Q exm1194428 15 101910550 [A/G] NM_002570,NM_138319,NM_138320,NM_138321,NM_138323,NM_138324,NM_138325 PCSK6,PCSK6,PCSK6,PCSK6,PCSK6,PCSK6,PCSK6 EXON Missense_S570F,Missense_S570F,Missense_S570F,Missense_S570F,Missense_S570F,Missense_S570F,Missense_S570F exm1194441 15 101922311 [T/C] NM_002570,NM_138319,NM_138320,NM_138321,NM_138323,NM_138324,NM_138325 PCSK6,PCSK6,PCSK6,PCSK6,PCSK6,PCSK6,PCSK6 EXON Missense_G506R,Missense_G506R,Missense_G506R,Missense_G506R,Missense_G506R,Missense_G506R,Missense_G506R exm1194444 15 101922323 [A/G] NM_002570,NM_138319,NM_138320,NM_138321,NM_138323,NM_138324,NM_138325 PCSK6,PCSK6,PCSK6,PCSK6,PCSK6,PCSK6,PCSK6 EXON Missense_C502R,Missense_C502R,Missense_C502R,Missense_C502R,Missense_C502R,Missense_C502R,Missense_C502R exm1194447 15 101922382 [T/C] NM_002570,NM_138319,NM_138320,NM_138321,NM_138323,NM_138324,NM_138325 PCSK6,PCSK6,PCSK6,PCSK6,PCSK6,PCSK6,PCSK6 EXON Missense_R482H,Missense_R482H,Missense_R482H,Missense_R482H,Missense_R482H,Missense_R482H,Missense_R482H exm1194448 15 101922388 [T/C] NM_002570,NM_138319,NM_138320,NM_138321,NM_138323,NM_138324,NM_138325 PCSK6,PCSK6,PCSK6,PCSK6,PCSK6,PCSK6,PCSK6 EXON Missense_G480D,Missense_G480D,Missense_G480D,Missense_G480D,Missense_G480D,Missense_G480D,Missense_G480D exm1194451 15 101924513 [T/C] NM_002570,NM_138319,NM_138320,NM_138321,NM_138323,NM_138324,NM_138325,NM_138322 PCSK6,PCSK6,PCSK6,PCSK6,PCSK6,PCSK6,PCSK6,PCSK6 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_V476I exm1194452 15 101924514 [A/G] NM_002570,NM_138319,NM_138320,NM_138321,NM_138323,NM_138324,NM_138325,NM_138322 PCSK6,PCSK6,PCSK6,PCSK6,PCSK6,PCSK6,PCSK6,PCSK6 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Synonymous_G475G exm1194456 15 101924546 [T/C] NM_002570,NM_138319,NM_138320,NM_138321,NM_138323,NM_138324,NM_138325,NM_138322 PCSK6,PCSK6,PCSK6,PCSK6,PCSK6,PCSK6,PCSK6,PCSK6 EXON Missense_E465K,Missense_E465K,Missense_E465K,Missense_E465K,Missense_E465K,Missense_E465K,Missense_E465K,Missense_E465K exm1194458 15 101924576 [T/C] NM_002570,NM_138319,NM_138320,NM_138321,NM_138323,NM_138324,NM_138325,NM_138322 PCSK6,PCSK6,PCSK6,PCSK6,PCSK6,PCSK6,PCSK6,PCSK6 EXON Missense_G455S,Missense_G455S,Missense_G455S,Missense_G455S,Missense_G455S,Missense_G455S,Missense_G455S,Missense_G455S exm1194461 15 101929740 [A/G] NM_002570,NM_138319,NM_138320,NM_138321,NM_138323,NM_138324,NM_138325,NM_138322 PCSK6,PCSK6,PCSK6,PCSK6,PCSK6,PCSK6,PCSK6,PCSK6 EXON Nonsense_R413X,Nonsense_R413X,Nonsense_R413X,Nonsense_R413X,Nonsense_R413X,Nonsense_R413X,Nonsense_R413X,Nonsense_R413X exm1194466 15 101933492 [A/C] NM_002570,NM_138319,NM_138320,NM_138321,NM_138323,NM_138324,NM_138325,NM_138322 PCSK6,PCSK6,PCSK6,PCSK6,PCSK6,PCSK6,PCSK6,PCSK6 EXON Missense_A378S,Missense_A378S,Missense_A378S,Missense_A378S,Missense_A378S,Missense_A378S,Missense_A378S,Missense_A378S exm1194473 15 101938651 [A/G] NM_002570,NM_138319,NM_138320,NM_138321,NM_138323,NM_138324,NM_138325,NM_138322 PCSK6,PCSK6,PCSK6,PCSK6,PCSK6,PCSK6,PCSK6,PCSK6 EXON Missense_R318W,Missense_R318W,Missense_R318W,Missense_R318W,Missense_R318W,Missense_R318W,Missense_R318W,Missense_R318W exm1194478 15 101938707 [T/C] NM_002570,NM_138319,NM_138320,NM_138321,NM_138323,NM_138324,NM_138325,NM_138322 PCSK6,PCSK6,PCSK6,PCSK6,PCSK6,PCSK6,PCSK6,PCSK6 EXON Missense_R299Q,Missense_R299Q,Missense_R299Q,Missense_R299Q,Missense_R299Q,Missense_R299Q,Missense_R299Q,Missense_R299Q exm1194482 15 101938750 [A/G] NM_002570,NM_138319,NM_138320,NM_138321,NM_138323,NM_138324,NM_138325,NM_138322 PCSK6,PCSK6,PCSK6,PCSK6,PCSK6,PCSK6,PCSK6,PCSK6 EXON Missense_C285R,Missense_C285R,Missense_C285R,Missense_C285R,Missense_C285R,Missense_C285R,Missense_C285R,Missense_C285R exm1194487 15 101968167 [T/C] NM_002570,NM_138319,NM_138320,NM_138321,NM_138323,NM_138324,NM_138325,NM_138322 PCSK6,PCSK6,PCSK6,PCSK6,PCSK6,PCSK6,PCSK6,PCSK6 EXON Missense_G251R,Missense_G251R,Missense_G251R,Missense_G251R,Missense_G251R,Missense_G251R,Missense_G251R,Missense_G251R exm1194489 15 101968182 [A/G] NM_002570,NM_138319,NM_138320,NM_138321,NM_138323,NM_138324,NM_138325,NM_138322 PCSK6,PCSK6,PCSK6,PCSK6,PCSK6,PCSK6,PCSK6,PCSK6 EXON Missense_R246W,Missense_R246W,Missense_R246W,Missense_R246W,Missense_R246W,Missense_R246W,Missense_R246W,Missense_R246W exm1194494 15 101970247 [T/C] NM_002570,NM_138319,NM_138320,NM_138321,NM_138323,NM_138324,NM_138325,NM_138322 PCSK6,PCSK6,PCSK6,PCSK6,PCSK6,PCSK6,PCSK6,PCSK6 EXON Missense_R226H,Missense_R226H,Missense_R226H,Missense_R226H,Missense_R226H,Missense_R226H,Missense_R226H,Missense_R226H exm1194496 15 101970260 [A/G] NM_002570,NM_138319,NM_138320,NM_138321,NM_138323,NM_138324,NM_138325,NM_138322 PCSK6,PCSK6,PCSK6,PCSK6,PCSK6,PCSK6,PCSK6,PCSK6 EXON Missense_R222C,Missense_R222C,Missense_R222C,Missense_R222C,Missense_R222C,Missense_R222C,Missense_R222C,Missense_R222C exm1194506 15 101972221 [T/G] NM_002570,NM_138319,NM_138320,NM_138321,NM_138323,NM_138324,NM_138325,NM_138322 PCSK6,PCSK6,PCSK6,PCSK6,PCSK6,PCSK6,PCSK6,PCSK6 EXON Missense_P162H,Missense_P162H,Missense_P162H,Missense_P162H,Missense_P162H,Missense_P162H,Missense_P162H,Missense_P162H exm1194508 15 101972225 [A/G] NM_002570,NM_138319,NM_138320,NM_138321,NM_138323,NM_138324,NM_138325,NM_138322 PCSK6,PCSK6,PCSK6,PCSK6,PCSK6,PCSK6,PCSK6,PCSK6 EXON Nonsense_R161X,Nonsense_R161X,Nonsense_R161X,Nonsense_R161X,Nonsense_R161X,Nonsense_R161X,Nonsense_R161X,Nonsense_R161X exm1194511 15 101972303 [T/C] NM_002570,NM_138319,NM_138320,NM_138321,NM_138323,NM_138324,NM_138325,NM_138322 PCSK6,PCSK6,PCSK6,PCSK6,PCSK6,PCSK6,PCSK6,PCSK6 EXON Missense_E135K,Missense_E135K,Missense_E135K,Missense_E135K,Missense_E135K,Missense_E135K,Missense_E135K,Missense_E135K exm1194513 15 101983799 [T/C] NM_002570,NM_138319,NM_138320,NM_138321,NM_138323,NM_138324,NM_138325,NM_138322 PCSK6,PCSK6,PCSK6,PCSK6,PCSK6,PCSK6,PCSK6,PCSK6 EXON Missense_X121W,Missense_X121W,Missense_X121W,Missense_X121W,Missense_X121W,Missense_X121W,Missense_X121W,Missense_X121W exm2267814 15 102042282 [A/G] exm1194536 15 102182794 [T/C] NM_078474,NM_025141 TM2D3,TM2D3 EXON Missense_E211G,Missense_E185G exm1194542 15 102186966 [A/G] NM_078474,NM_025141 TM2D3,TM2D3 EXON Missense_P155L,Missense_P129L exm1194550 15 102187073 [C/G] NM_078474,NM_025141 TM2D3,TM2D3 EXON Missense_F119L,Missense_F93L exm1194554 15 102190275 [T/C] NM_078474,NM_025141 TM2D3,TM2D3 EXON Missense_N87D,Missense_N61D exm1194558 15 102190334 [T/G] NM_078474,NM_025141 TM2D3,TM2D3 EXON Missense_K67T,Missense_K41T exm1194562 15 102191919 [G/C] NM_078474,NM_025141 TM2D3,TM2D3 EXON Missense_T50R,Silent exm2274790 15 102191929 [A/G] NM_078474,NM_025141 TM2D3,TM2D3 EXON Missense_R47C,Silent exm1194569 15 102192482 [A/G] NM_078474,NM_025141 TM2D3,TM2D3 EXON Missense_S28L,Missense_S28L exm1194576 15 102192537 [G/C] NM_078474,NM_025141 TM2D3,TM2D3 EXON Missense_G10R,Missense_G10R exm1194589 15 102194813 [T/C] NM_152334 TARSL2 EXON Missense_R794Q exm1194611 15 102211876 [T/G] NM_152334 TARSL2 EXON Missense_K622Q exm2223030 15 102215815 [T/A] NM_152334 TARSL2 EXON Missense_N592K exm1194615 15 102215911 [C/G] NM_152334 TARSL2 EXON Missense_Q560H exm1194618 15 102224322 [A/G] NM_152334 TARSL2 EXON Missense_R536C exm1194619 15 102224334 [T/C] NM_152334 TARSL2 EXON Missense_T532A exm1194622 15 102224423 [T/C] NM_152334 TARSL2 EXON Missense_R502H exm1194629 15 102226241 [T/G] NM_152334 TARSL2 EXON Missense_T449P exm1194631 15 102241294 [A/T] NM_152334 TARSL2 EXON Missense_I439L exm1194637 15 102242451 [A/C] NM_152334 TARSL2 EXON Missense_K404N exm1194644 15 102244085 [T/C] NM_152334 TARSL2 EXON Missense_I351V exm1194652 15 102248996 [T/C] NM_152334 TARSL2 EXON Synonymous_K310K exm1194658 15 102249103 [T/C] NM_152334 TARSL2 EXON Missense_S275G exm1194659 15 102249109 [T/C] NM_152334 TARSL2 EXON Missense_V273M exm1194662 15 102252128 [A/G] NM_152334 TARSL2 EXON Missense_P256L exm1194664 15 102252132 [T/C] NM_152334 TARSL2 EXON Missense_G255S exm1194667 15 102252163 [T/C] NM_152334 TARSL2 EXON Missense_M244I exm1194671 15 102255076 [G/C] NM_152334 TARSL2 EXON Missense_E219D exm1194674 15 102255146 [A/G] NM_152334 TARSL2 EXON Missense_T196M exm1194697 15 102264476 [A/C] NM_152334 TARSL2 EXON Missense_A39S exm1194698 15 102264483 [G/C] NM_152334 TARSL2 EXON Missense_Q36H exm1194699 15 102264489 [T/G] NM_152334 TARSL2 EXON Missense_D34E exm1194702 15 102264535 [T/C] NM_152334 TARSL2 EXON Missense_E19G exm1824763 15 102345993 [A/C] NM_001005326 OR4F6 EXON Missense_Q24P exm1194726 15 102346082 [T/C] NM_001005326 OR4F6 EXON Missense_R54C exm1194727 15 102346083 [A/G] NM_001005326 OR4F6 EXON Missense_R54H exm1194729 15 102346127 [A/G] NM_001005326 OR4F6 EXON Missense_I69V exm1194732 15 102346160 [A/G] NM_001005326 OR4F6 EXON Missense_K80E exm1194737 15 102346225 [G/C] NM_001005326 OR4F6 EXON Missense_I101M exm1194739 15 102346271 [A/G] NM_001005326 OR4F6 EXON Missense_A117T exm1194742 15 102346287 [A/G] NM_001005326 OR4F6 EXON Missense_R122Q exm1824765 15 102346343 [T/G] NM_001005326 OR4F6 EXON Missense_C141G exm1194745 15 102346417 [A/C] NM_001005326 OR4F6 EXON Missense_D165E exm1194755 15 102346598 [T/C] NM_001005326 OR4F6 EXON Nonsense_Q226X exm1824767 15 102346619 [A/G] NM_001005326 OR4F6 EXON Missense_I233V exm1194756 15 102346635 [G/C] NM_001005326 OR4F6 EXON Missense_S238C exm1194757 15 102346638 [A/T] NM_001005326 OR4F6 EXON Missense_M239K exm1194765 15 102346823 [T/C] NM_001005326 OR4F6 EXON Nonsense_R301X exm1194767 15 102358450 [T/C] NM_001001674 OR4F15 EXON Missense_R21W exm1194768 15 102358451 [A/G] NM_001001674 OR4F15 EXON Missense_R21Q exm1194771 15 102358523 [T/C] NM_001001674 OR4F15 EXON Missense_I45T exm1194779 15 102358673 [A/G] NM_001001674 OR4F15 EXON Missense_R95Q exm1194781 15 102358695 [A/C] NM_001001674 OR4F15 EXON Missense_F102L exm1194785 15 102358794 [G/C] NM_001001674 OR4F15 EXON Missense_I135M exm1194786 15 102358818 [G/C] NM_001001674 OR4F15 EXON Nonsense_Y143X exm1194788 15 102358824 [A/C] NM_001001674 OR4F15 EXON Missense_L145F exm1194789 15 102358835 [T/C] NM_001001674 OR4F15 EXON Missense_S149F exm1194794 15 102358939 [T/C] NM_001001674 OR4F15 EXON Missense_L184F exm1194796 15 102358987 [A/G] NM_001001674 OR4F15 EXON Missense_T200A exm1194798 15 102359035 [A/G] NM_001001674 OR4F15 EXON Missense_I216V exm1194803 15 102359203 [A/G] NM_001001674 OR4F15 EXON Missense_A272T exm1194806 15 102359268 [A/C] NM_001001674 OR4F15 EXON Missense_D293E exm1194810 15 102388991 [T/C] NR_046417 OR4F13P EXON Silent exm2274791 15 102389423 [C/G] NR_046417 OR4F13P EXON Silent exm1194891 16 97531 [A/G] NM_016310 POLR3K EXON Missense_R76C exm1194901 16 101591 [A/C] NM_016310 POLR3K EXON Missense_A56S exm1194912 16 103517 [A/C] NM_016310 POLR3K EXON Missense_S24A exm1194942 16 105863 [A/G] NM_024571 SNRNP25 EXON Missense_G83S exm1194945 16 106546 [A/G] NM_024571 SNRNP25 EXON Missense_V92M exm1194951 16 106589 [T/C] NM_024571 SNRNP25 EXON Missense_T106M exm1194953 16 106610 [A/G] NM_024571 SNRNP25 EXON Missense_R113Q exm1194983 16 108738 [C/G] NM_022450 RHBDF1 EXON Missense_Q723H exm1194988 16 109103 [T/C] NM_022450 RHBDF1 EXON Missense_I673V exm1195018 16 110482 [A/G] NM_022450 RHBDF1 EXON Missense_A538V exm2252427 16 112601 [T/C] NM_022450 RHBDF1 EXON Synonymous_P296P exm1845810 16 112659 [A/G] NM_022450 RHBDF1 EXON Missense_P277L exm1195059 16 112775 [A/G] NM_022450 RHBDF1 EXON Missense_R265W exm2224131 16 112867 [T/C] NM_022450 RHBDF1 EXON Missense_R234H exm1195073 16 113027 [A/G] NM_022450 RHBDF1 EXON Missense_R206C exm1195079 16 113083 [A/G] NM_022450 RHBDF1 EXON Missense_A187V exm1845842 16 113092 [A/G] NM_022450 RHBDF1 EXON Missense_P184L exm1195087 16 113177 [T/C] NM_022450 RHBDF1 EXON Missense_I156V exm1195088 16 113614 [T/C] NM_022450 RHBDF1 EXON Missense_V145M exm1195112 16 114773 [A/G] NM_022450 RHBDF1 EXON Missense_H58Y exm1195114 16 114817 [T/C] NM_022450 RHBDF1 EXON Missense_R43Q exm1195119 16 114934 [A/G] NM_022450 RHBDF1 EXON Missense_A27V exm1195131 16 129423 [T/G] NM_001015054,NM_002434,NM_001015052 MPG,MPG,MPG Silent,Silent,Silent exm1195137 16 129478 [A/C] NM_001015054,NM_002434,NM_001015052 MPG,MPG,MPG EXON Missense_H15N,Missense_H32N,Missense_H27N exm1195160 16 133061 [A/G] NM_001015054,NM_002434,NM_001015052 MPG,MPG,MPG EXON Missense_R92Q,Missense_R109Q,Missense_R104Q exm1195166 16 133093 [T/C] NM_001015054,NM_002434,NM_001015052 MPG,MPG,MPG EXON Missense_R103C,Missense_R120C,Missense_R115C exm1195167 16 133094 [A/G] NM_001015054,NM_002434,NM_001015052 MPG,MPG,MPG EXON Missense_R103H,Missense_R120H,Missense_R115H exm1195171 16 133138 [A/G] NM_001015054,NM_002434,NM_001015052 MPG,MPG,MPG EXON Missense_A118T,Missense_A135T,Missense_A130T exm1195173 16 133156 [T/C] NM_001015054,NM_002434,NM_001015052 MPG,MPG,MPG EXON Missense_R124W,Missense_R141W,Missense_R136W exm1195174 16 133157 [A/G] NM_001015054,NM_002434,NM_001015052 MPG,MPG,MPG EXON Missense_R124Q,Missense_R141Q,Missense_R136Q exm1195182 16 133222 [A/G] NM_001015054,NM_002434,NM_001015052 MPG,MPG,MPG EXON Missense_G146S,Missense_G163S,Missense_G158S exm1195188 16 135414 [A/G] NM_001015054,NM_002434,NM_001015052 MPG,MPG,MPG EXON Missense_V162I,Missense_V179I,Missense_V174I exm1195189 16 135460 [A/G] NM_001015054,NM_002434,NM_001015052 MPG,MPG,MPG EXON Missense_R177H,Missense_R194H,Missense_R189H exm1195196 16 135523 [A/G] NM_001015054,NM_002434,NM_001015052 MPG,MPG,MPG EXON Missense_C198Y,Missense_C215Y,Missense_C210Y exm1195198 16 135603 [G/C] NM_001015054,NM_002434,NM_001015052 MPG,MPG,MPG EXON Missense_V225L,Missense_V242L,Missense_V237L exm1195210 16 135757 [A/G] NM_001015054,NM_002434,NM_001015052 MPG,MPG,MPG EXON Missense_E276G,Missense_E293G,Missense_E288G exm1195215 16 136821 [A/G] NM_001243249,NM_001039476,NM_001077350,NM_001243247,NM_001243248 NPRL3,NPRL3,NPRL3,NPRL3,NPRL3 EXON Missense_T506I,Missense_T352I,Missense_T531I,Missense_T453I,Missense_T506I exm1195217 16 138725 [A/T] NM_001243249,NM_001039476,NM_001077350,NM_001243247,NM_001243248 NPRL3,NPRL3,NPRL3,NPRL3,NPRL3 EXON Missense_R480S,Missense_R326S,Missense_R505S,Missense_R427S,Missense_R480S exm1195248 16 143224 [A/C] NM_001243249,NM_001039476,NM_001077350,NM_001243247,NM_001243248 NPRL3,NPRL3,NPRL3,NPRL3,NPRL3 EXON Missense_V317L,Missense_V163L,Missense_V342L,Missense_V264L,Missense_V317L exm1195260 16 150392 [T/C] NM_001243249,NM_001039476,NM_001077350,NM_001243247,NM_001243248 NPRL3,NPRL3,NPRL3,NPRL3,NPRL3 EXON Missense_E224K,Missense_E70K,Missense_E249K,Missense_E171K,Missense_E224K exm1195263 16 150484 [T/C] NM_001243249,NM_001039476,NM_001077350,NM_001243247,NM_001243248 NPRL3,NPRL3,NPRL3,NPRL3,NPRL3 EXON Missense_R193Q,Missense_R39Q,Missense_R218Q,Missense_R140Q,Missense_R193Q exm1195264 16 150485 [A/G] NM_001243249,NM_001039476,NM_001077350,NM_001243247,NM_001243248 NPRL3,NPRL3,NPRL3,NPRL3,NPRL3 EXON Missense_R193W,Missense_R39W,Missense_R218W,Missense_R140W,Missense_R193W exm1195275 16 162726 [A/G] NM_001243249,NM_001039476,NM_001077350,NM_001243247,NM_001243248 NPRL3,NPRL3,NPRL3,NPRL3,NPRL3 EXON Missense_R123C,Silent,Missense_R148C,Missense_R70C,Missense_R123C exm2224348 16 202930 [A/G] NM_005332 HBZ EXON Missense_R8G exm1195307 16 216075 [A/G] NM_001003938 HBM EXON Missense_E27K exm1195309 16 216090 [T/C] NM_001003938 HBM Silent exm1195311 16 216274 [A/G] NM_001003938 HBM EXON Missense_T34A exm1195325 16 216636 [A/G] NM_001003938 HBM EXON Missense_V119M exm1195334 16 223579 [A/C] NM_000517 HBA2 EXON Missense_L137M exm1195343 16 230538 [T/C] NM_005331 HBQ1 EXON Missense_L18P exm1195348 16 230721 [T/C] NM_005331 HBQ1 EXON Missense_P51L exm1195361 16 231021 [C/G] NM_005331 HBQ1 EXON Missense_P115A exm1195382 16 240003 [T/C] NM_018032,NM_201412 LUC7L,LUC7L EXON Missense_H313R,Missense_H313R exm1852328 16 240081 [T/C] NM_018032,NM_201412 LUC7L,LUC7L EXON Missense_R287Q,Missense_R287Q exm1195406 16 256119 [T/C] NM_018032,NM_201412 LUC7L,LUC7L EXON Missense_E132K,Missense_E132K exm1195414 16 258184 [T/C] NM_018032,NM_201412 LUC7L,LUC7L EXON Missense_M87V,Missense_M87V exm1195418 16 270724 [A/G] NM_018032,NM_201412 LUC7L,LUC7L EXON Missense_T60I,Missense_T60I exm1195436 16 304549 [A/G] NM_032039 ITFG3 EXON Missense_R46Q exm1195447 16 309524 [A/G] NM_032039 ITFG3 EXON Missense_R104K exm1195452 16 309998 [T/C] NM_032039 ITFG3 EXON Missense_A139V exm1195454 16 310018 [T/A] NM_032039 ITFG3 EXON Missense_S146C exm1195457 16 310093 [A/G] NM_032039 ITFG3 EXON Missense_E171K exm1195488 16 312458 [T/C] NM_032039 ITFG3 EXON Missense_Y293H exm2224717 16 312504 [A/G] NM_032039 ITFG3 EXON Missense_H308R exm1195491 16 312522 [A/G] NM_032039 ITFG3 EXON Missense_N314S exm1195505 16 313383 [A/G] NM_032039 ITFG3 EXON Missense_K365R exm1195515 16 314067 [T/C] NM_032039 ITFG3 EXON Missense_P414L exm1195526 16 314165 [A/G] NM_032039 ITFG3 EXON Missense_E447K exm2224731 16 314664 [T/C] NM_032039 ITFG3 EXON Missense_R466C exm1195538 16 314866 [T/G] NM_032039 ITFG3 EXON Missense_D502Y exm1195539 16 314881 [A/G] NM_032039 ITFG3 EXON Missense_G507S exm1195541 16 314942 [A/G] NM_032039 ITFG3 EXON Missense_R527H exm1195542 16 314962 [A/G] NM_032039 ITFG3 EXON Missense_D534N exm1195548 16 315008 [A/G] NM_032039 ITFG3 EXON Missense_Q549R exm1195568 16 319511 [A/G] NM_183337,NM_003834 RGS11,RGS11 EXON Missense_M427T,Missense_M406T exm1195569 16 319547 [T/C] NM_183337,NM_003834 RGS11,RGS11 EXON Missense_K415R,Missense_K394R exm1195578 16 320583 [T/C] NM_183337,NM_003834 RGS11,RGS11 EXON Missense_R382H,Missense_R361H exm1195579 16 320584 [A/G] NM_183337,NM_003834 RGS11,RGS11 EXON Missense_R382C,Missense_R361C exm1195582 16 320614 [A/G] NM_183337,NM_003834 RGS11,RGS11 EXON Missense_R372W,Missense_R351W exm1195585 16 320629 [T/C] NM_183337,NM_003834 RGS11,RGS11 EXON Missense_V367I,Missense_V346I exm1195586 16 320662 [T/G] NM_183337,NM_003834 RGS11,RGS11 Silent,Silent exm1195589 16 320750 [T/C] NM_183337,NM_003834 RGS11,RGS11 EXON Missense_V354M,Missense_V333M exm1195590 16 320759 [T/C] NM_183337,NM_003834 RGS11,RGS11 EXON Missense_V351M,Missense_V330M exm1195592 16 320768 [A/G] NM_183337,NM_003834 RGS11,RGS11 EXON Missense_P348S,Missense_P327S exm1195594 16 320791 [T/C] NM_183337,NM_003834 RGS11,RGS11 EXON Missense_R340Q,Missense_R319Q exm1195598 16 320982 [T/C] NM_183337,NM_003834 RGS11,RGS11 Silent,Silent exm1195600 16 320992 [A/C] NM_183337,NM_003834 RGS11,RGS11 EXON Nonsense_E324X,Nonsense_E303X exm1857104 16 321200 [T/C] NM_183337,NM_003834 RGS11,RGS11 Silent,Silent exm1195612 16 321226 [T/C] NM_183337,NM_003834 RGS11,RGS11 EXON Missense_A280T,Missense_A259T exm1195624 16 321440 [A/G] NM_183337,NM_003834 RGS11,RGS11 EXON Missense_A236V,Missense_A215V exm1857114 16 323799 [C/G] NM_183337,NM_003834 RGS11,RGS11 EXON Missense_A156G,Missense_A135G exm1195669 16 324075 [A/G] NM_183337,NM_003834 RGS11,RGS11 EXON Nonsense_R133X,Nonsense_R112X exm1195677 16 324252 [T/C] NM_183337,NM_003834 RGS11,RGS11 EXON Nonsense_W111X,Nonsense_W90X exm1195690 16 325035 [A/G] NM_183337,NM_003834 RGS11,RGS11 EXON Missense_P87S,Missense_P66S exm1195713 16 331851 [A/G] NM_001176 ARHGDIG EXON Missense_R60Q exm1195729 16 332373 [A/G] NM_001176 ARHGDIG EXON Synonymous_K138K exm1195740 16 332632 [A/G] NM_001176 ARHGDIG EXON Missense_M166V exm1857269 16 332719 [T/C] NM_001176 ARHGDIG EXON Missense_P195S exm1195747 16 332758 [A/G] NM_001176 ARHGDIG EXON Missense_T208A exm1195748 16 332759 [T/C] NM_001176 ARHGDIG EXON Missense_T208M exm1195755 16 333229 [A/G] NM_006849 PDIA2 EXON Nonsense_W20X exm1195756 16 333246 [T/C] NM_006849 PDIA2 EXON Missense_A26V exm1195760 16 333284 [T/C] NM_006849 PDIA2 EXON Missense_P39S exm1857288 16 333338 [A/C] NM_006849 PDIA2 EXON Synonymous_R57R exm1195763 16 333339 [A/G] NM_006849 PDIA2 EXON Missense_R57Q exm1195773 16 334503 [T/C] NM_006849 PDIA2 EXON Missense_R106C exm1195775 16 334531 [T/C] NM_006849 PDIA2 EXON Missense_T115M exm1195777 16 334534 [A/G] NM_006849 PDIA2 EXON Missense_E116G exm1195783 16 334573 [T/C] NM_006849 PDIA2 EXON Missense_T129M exm1195784 16 334575 [T/C] NM_006849 PDIA2 EXON Missense_H130Y exm1195794 16 334685 [A/G] NM_006849 PDIA2 EXON Missense_E145K exm1195807 16 334749 [T/C] NM_006849 PDIA2 EXON Missense_A166V exm1195809 16 334757 [A/G] NM_006849 PDIA2 EXON Missense_G169S exm1195810 16 334763 [T/C] NM_006849 PDIA2 EXON Missense_R171W exm1195815 16 334899 [A/G] NM_006849 PDIA2 EXON Missense_A188T exm1195822 16 334957 [A/G] NM_006849 PDIA2 EXON Missense_R207Q exm1195846 16 335373 [T/C] NM_006849 PDIA2 EXON Missense_T286M exm1195859 16 335530 [T/G] NM_006849 PDIA2 EXON Missense_A316S exm1195860 16 335531 [T/C] NM_006849 PDIA2 EXON Missense_A316V exm1195863 16 335577 [C/G] NM_006849 PDIA2 EXON Missense_E331D exm1195868 16 335639 [T/G] NM_006849 PDIA2 EXON Missense_G352V exm1195870 16 335653 [G/C] NM_006849 PDIA2 EXON Missense_A357P exm1195887 16 336396 [A/G] NM_006849 PDIA2 EXON Missense_R388Q exm1195891 16 336413 [A/G] NM_006849 PDIA2 EXON Missense_V394M exm1195895 16 336438 [T/C] NM_006849 PDIA2 EXON Missense_A402V exm1195897 16 336446 [A/G] NM_006849 PDIA2 EXON Missense_E405K exm1195910 16 336691 [A/G] NM_006849 PDIA2 EXON Missense_G460S exm1195912 16 336716 [T/C] NM_006849 PDIA2 EXON Missense_P468L exm1195913 16 336730 [A/C] NM_006849 PDIA2 EXON Synonymous_R473R exm1195918 16 336854 [C/G] NM_006849 PDIA2 EXON Missense_T481S exm1195920 16 336872 [T/C] NM_006849 PDIA2 EXON Missense_F487S exm1195923 16 336892 [A/G] NM_006849 PDIA2 EXON Missense_G494R exm1195925 16 336898 [A/G] NM_006849 PDIA2 EXON Missense_V496M exm1195928 16 336916 [T/C] NM_006849 PDIA2 EXON Missense_P502S exm1195932 16 336944 [T/C] NM_006849 PDIA2 EXON Missense_P511L exm2273533 16 337691 [T/C] NM_181050,NM_003502 AXIN1,AXIN1 EXON Silent,Silent exm1195956 16 338189 [T/C] NM_181050,NM_003502 AXIN1,AXIN1 EXON Missense_R805Q,Missense_R841Q exm2252576 16 339580 [A/G] NM_181050,NM_003502 AXIN1,AXIN1 EXON Synonymous_G738G,Synonymous_G774G exm1195975 16 339599 [A/G] NM_181050,NM_003502 AXIN1,AXIN1 EXON Missense_S732L,Missense_S768L exm1196002 16 347063 [T/C] NM_181050,NM_003502 AXIN1,AXIN1 EXON Missense_G650S,Missense_G650S exm1196037 16 347957 [T/C] NM_181050,NM_003502 AXIN1,AXIN1 EXON Missense_V517I,Missense_V517I exm1196055 16 348233 [T/C] NM_181050,NM_003502 AXIN1,AXIN1 EXON Missense_G425S,Missense_G425S exm2224774 16 354314 [T/C] NM_181050,NM_003502 AXIN1,AXIN1 EXON Missense_R415H,Missense_R415H exm1196059 16 354353 [A/G] NM_181050,NM_003502 AXIN1,AXIN1 EXON Missense_T402M,Missense_T402M exm1196065 16 354411 [T/C] NM_181050,NM_003502 AXIN1,AXIN1 EXON Missense_V383M,Missense_V383M exm1196066 16 354413 [T/C] NM_181050,NM_003502 AXIN1,AXIN1 EXON Missense_R382H,Missense_R382H exm1196067 16 354414 [A/G] NM_181050,NM_003502 AXIN1,AXIN1 EXON Missense_R382C,Missense_R382C exm1196074 16 359995 [T/C] NM_181050,NM_003502 AXIN1,AXIN1 EXON Missense_R365Q,Missense_R365Q exm1196078 16 364544 [T/C] NM_181050,NM_003502 AXIN1,AXIN1 EXON Missense_V340M,Missense_V340M exm1196088 16 396193 [A/G] NM_181050,NM_003502 AXIN1,AXIN1 EXON Missense_P278L,Missense_P278L exm1196089 16 396221 [C/G] NM_181050,NM_003502 AXIN1,AXIN1 EXON Missense_Q269E,Missense_Q269E exm1196100 16 396382 [A/G] NM_181050,NM_003502 AXIN1,AXIN1 EXON Missense_S215L,Missense_S215L exm1196117 16 396727 [T/C] NM_181050,NM_003502 AXIN1,AXIN1 EXON Missense_S100N,Missense_S100N exm1196139 16 417691 [G/C] NM_006428 MRPL28 EXON Missense_R252T exm1196142 16 417722 [T/C] NM_006428 MRPL28 EXON Missense_A242T exm1196149 16 418348 [A/G] NM_006428 MRPL28 EXON Nonsense_Q215X exm1858177 16 418381 [T/C] NM_006428 MRPL28 EXON Missense_V204M exm1858180 16 418527 [A/G] NM_006428 MRPL28 EXON Missense_R184W exm1196213 16 420043 [C/G] NM_006428 MRPL28 EXON Missense_R59P exm1196215 16 420056 [A/T] NM_006428 MRPL28 EXON Nonsense_K55X exm1196218 16 420079 [T/C] NM_006428 MRPL28 EXON Missense_G47E exm1196224 16 420140 [A/G] NM_006428 MRPL28 EXON Missense_H27Y exm1196232 16 420208 [T/C] NM_006428 MRPL28 EXON Missense_H4R exm1196243 16 422085 [T/G] NM_021259 TMEM8A EXON Missense_P740T exm1196249 16 422166 [A/T] NM_021259 TMEM8A EXON Missense_M713L exm1196250 16 422168 [A/G] NM_021259 TMEM8A EXON Missense_M712T exm1196260 16 422262 [A/G] NM_021259 TMEM8A EXON Missense_R681C exm1196267 16 424005 [A/G] NM_021259 TMEM8A EXON Synonymous_Y634Y exm1196286 16 424288 [A/G] NM_021259 TMEM8A EXON Missense_A563V exm1196303 16 425194 [G/C] NM_021259 TMEM8A EXON Missense_P460A exm1196307 16 425238 [A/G] NM_021259 TMEM8A EXON Missense_P445L exm1196315 16 425351 [T/C] NM_021259 TMEM8A EXON Missense_T437A exm1196317 16 425368 [T/C] NM_021259 TMEM8A EXON Missense_N431S exm1196318 16 425378 [A/G] NM_021259 TMEM8A EXON Missense_L428F exm1196328 16 426207 [T/C] NM_021259 TMEM8A EXON Missense_V385M exm1196331 16 426236 [A/G] NM_021259 TMEM8A EXON Missense_S375L exm1196336 16 426329 [A/C] NM_021259 TMEM8A EXON Missense_V344G exm2224815 16 426353 [T/G] NM_021259 TMEM8A EXON Missense_Q336P exm1196344 16 426432 [T/C] NM_021259 TMEM8A EXON Missense_I310V exm1196350 16 426579 [T/C] NM_021259 TMEM8A EXON Missense_G290E exm1196365 16 426768 [T/C] NM_021259 TMEM8A EXON Missense_R227Q exm1858282 16 427062 [A/G] NM_021259 TMEM8A EXON Missense_L204F exm1196373 16 427071 [A/G] NM_021259 TMEM8A EXON Missense_P201S exm1196375 16 427080 [T/C] NM_021259 TMEM8A EXON Missense_V198M exm1196381 16 427147 [A/C] NM_021259 TMEM8A EXON Missense_C175W exm1196390 16 427452 [T/C] NM_021259 TMEM8A EXON Missense_V145I exm1196408 16 427699 [C/G] NM_021259 TMEM8A EXON Missense_A91P exm1196414 16 427758 [T/C] NM_021259 TMEM8A EXON Missense_R71H exm1196416 16 427765 [A/G] NM_021259 TMEM8A EXON Missense_R69C exm1196435 16 449067 [A/G] NM_005009 NME4 EXON Missense_V57M exm1196452 16 449442 [G/C] NM_005009 NME4 EXON Missense_L97V exm1196453 16 449448 [T/C] NM_005009 NME4 EXON Missense_R99C exm1196465 16 449681 [A/G] NM_005009 NME4 EXON Missense_D128N exm1196466 16 449685 [T/C] NM_005009 NME4 EXON Missense_S129L exm1196478 16 450238 [A/G] NM_005009 NME4 EXON Missense_D154N exm1196480 16 450259 [T/C] NM_005009 NME4 EXON Missense_R161W exm1196484 16 451985 [A/G] NM_020664 DECR2 EXON Missense_V8M exm1196502 16 456396 [T/C] NM_020664 DECR2 EXON Missense_T67M exm1196517 16 457486 [A/G] NM_020664 DECR2 EXON Missense_R88Q exm1196528 16 460246 [T/C] NM_020664 DECR2 EXON Missense_A114V exm1196534 16 460321 [A/G] NM_020664 DECR2 EXON Missense_S139N exm1196535 16 460335 [A/G] NM_020664 DECR2 EXON Missense_V144M exm1196538 16 460358 [T/G] NM_020664 DECR2 EXON Missense_K151N exm1196539 16 460365 [T/C] NM_020664 DECR2 EXON Missense_R154W exm1196552 16 460981 [T/C] NM_020664 DECR2 EXON Missense_T189M exm1196555 16 460984 [A/G] NM_020664 DECR2 EXON Missense_R190Q exm1196560 16 461049 [A/G] NM_020664 DECR2 EXON Missense_S212G exm1196567 16 461483 [C/G] NM_020664 DECR2 EXON Missense_G262R exm1196596 16 511436 [T/G] NM_014700 RAB11FIP3 EXON Missense_S249R exm1196597 16 511446 [A/G] NM_014700 RAB11FIP3 EXON Missense_V253M exm1860743 16 532645 [A/G] NM_014700,NM_001142272 RAB11FIP3,RAB11FIP3 EXON Missense_A342T,Missense_A46T exm1196615 16 538888 [A/G] NM_014700,NM_001142272 RAB11FIP3,RAB11FIP3 EXON Missense_G385R,Missense_G89R exm1196638 16 553035 [A/G] NM_014700,NM_001142272 RAB11FIP3,RAB11FIP3 EXON Missense_E445K,Missense_E149K exm1196646 16 555578 [A/G] NM_014700,NM_001142272 RAB11FIP3,RAB11FIP3 EXON Missense_G484S,Missense_G188S exm1196650 16 560734 [A/G] NM_014700,NM_001142272 RAB11FIP3,RAB11FIP3 EXON Missense_R525H,Missense_R229H exm1196660 16 569014 [A/G] NM_014700,NM_001142272 RAB11FIP3,RAB11FIP3 EXON Missense_R571H,Missense_R275H exm1196662 16 569754 [G/C] NM_014700,NM_001142272 RAB11FIP3,RAB11FIP3 EXON Missense_E575Q,Missense_E279Q exm1196678 16 570466 [A/G] NM_014700,NM_001142272 RAB11FIP3,RAB11FIP3 EXON Missense_R675H,Missense_R379H exm1196701 16 596897 [A/G] NM_005632 SOLH EXON Missense_Q20R exm1196713 16 597040 [A/G] NM_005632 SOLH EXON Missense_G68S exm1196715 16 597059 [T/C] NM_005632 SOLH EXON Missense_A74V exm1196759 16 597746 [T/C] NM_005632 SOLH EXON Missense_T303M exm1196761 16 597764 [A/G] NM_005632 SOLH EXON Missense_R309H exm1196772 16 597905 [T/C] NM_005632 SOLH EXON Missense_V356A exm1196775 16 597925 [T/C] NM_005632 SOLH EXON Missense_C363R exm1196810 16 599116 [A/G] NM_005632 SOLH EXON Missense_V525I exm1196839 16 601352 [T/C] NM_005632 SOLH EXON Missense_S706L exm1196859 16 601646 [A/C] NM_005632 SOLH EXON Missense_E776A exm1196886 16 602306 [T/C] NM_005632 SOLH EXON Missense_S838L exm1196898 16 602377 [T/C] NM_005632 SOLH EXON Missense_H862Y exm1196919 16 602647 [T/C] NM_005632 SOLH EXON Missense_P927L exm1196936 16 602974 [A/G] NM_005632 SOLH EXON Missense_D1006N exm1196941 16 603001 [A/G] NM_005632 SOLH EXON Missense_G1015S exm1196946 16 603376 [A/G] NM_005632 SOLH EXON Missense_A1041T exm2272332 16 605481 [T/C] exm1196957 16 613322 [A/G] NM_145270 C16orf11 EXON Missense_V10M exm1196960 16 613344 [A/G] NM_145270 C16orf11 EXON Missense_R17Q exm1196961 16 613350 [A/G] NM_145270 C16orf11 EXON Missense_R19Q exm1196965 16 613524 [A/G] NM_145270 C16orf11 EXON Missense_R77H exm1197010 16 614727 [A/G] NM_145270 C16orf11 EXON Missense_G379D exm1197034 16 615243 [T/C] NM_145270 C16orf11 EXON Missense_T551M exm1197044 16 618214 [T/C] NM_176677 NHLRC4 EXON Missense_S56F exm1197048 16 618255 [T/C] NM_176677 NHLRC4 EXON Missense_R70C exm1197050 16 618273 [T/C] NM_176677 NHLRC4 EXON Missense_P76S exm1197054 16 618340 [T/C] NM_176677 NHLRC4 EXON Missense_A98V exm1197058 16 624108 [A/G] NM_148920,NM_004204 PIGQ,PIGQ EXON Missense_V12I,Missense_V12I exm1197060 16 624114 [A/G] NM_148920,NM_004204 PIGQ,PIGQ EXON Missense_T14A,Missense_T14A exm1197073 16 624364 [T/G] NM_148920,NM_004204 PIGQ,PIGQ EXON Missense_C97F,Missense_C97F exm1197077 16 624424 [T/C] NM_148920,NM_004204 PIGQ,PIGQ EXON Missense_A117V,Missense_A117V exm1197079 16 624474 [T/C] NM_148920,NM_004204 PIGQ,PIGQ EXON Missense_R134C,Missense_R134C exm1863248 16 624694 [A/G] NM_148920,NM_004204 PIGQ,PIGQ EXON Missense_R207Q,Missense_R207Q exm1197102 16 625901 [A/G] NM_148920,NM_004204 PIGQ,PIGQ EXON Missense_R251Q,Missense_R251Q exm1197108 16 626186 [G/C] NM_148920,NM_004204 PIGQ,PIGQ EXON Missense_L292V,Missense_L292V exm1197116 16 626237 [G/C] NM_148920,NM_004204 PIGQ,PIGQ EXON Missense_L309V,Missense_L309V exm1197117 16 626240 [A/G] NM_148920,NM_004204 PIGQ,PIGQ EXON Missense_V310I,Missense_V310I exm1197139 16 629098 [C/G] NM_148920,NM_004204 PIGQ,PIGQ EXON Missense_S418C,Missense_S418C exm1197141 16 629119 [T/G] NM_148920,NM_004204 PIGQ,PIGQ EXON Missense_R425L,Missense_R425L exm1197162 16 630946 [A/G] NM_148920,NM_004204 PIGQ,PIGQ EXON Missense_R502Q,Missense_R502Q exm1197181 16 632262 [A/C] NM_148920,NM_004204 PIGQ,PIGQ EXON Silent,Missense_R516S exm1197183 16 632283 [A/G] NM_148920,NM_004204 PIGQ,PIGQ EXON Silent,Missense_G523S exm1197188 16 632891 [A/G] NM_148920,NM_004204 PIGQ,PIGQ EXON Missense_T514A,Synonymous_P534P exm2276408 16 632917 [C/G] NM_148920,NM_004204 PIGQ,PIGQ EXON Missense_H522Q,Missense_T543S exm1197199 16 633125 [T/C] NM_148920,NM_004204 PIGQ,PIGQ EXON Missense_C592R,Silent exm1197214 16 633353 [T/C] NM_148920,NM_004204 PIGQ,PIGQ EXON Missense_C668R,Silent exm1197215 16 633354 [A/G] NM_148920,NM_004204 PIGQ,PIGQ EXON Missense_C668Y,Silent exm1197219 16 633386 [T/C] NM_148920,NM_004204 PIGQ,PIGQ EXON Nonsense_Q679X,Silent exm1197220 16 633399 [A/T] NM_148920,NM_004204 PIGQ,PIGQ EXON Missense_E683V,Silent exm-rs763014 16 675680 [T/C] NM_001172663,NM_001172664,NM_001172665,NM_001172666,NM_021168 RAB40C,RAB40C,RAB40C,RAB40C,RAB40C Silent,Silent,Silent,Silent,Silent exm1197276 16 676059 [T/C] NM_001172663,NM_001172664,NM_001172665,NM_001172666,NM_021168 RAB40C,RAB40C,RAB40C,RAB40C,RAB40C EXON Missense_T168M,Missense_T168M,Missense_T168M,Missense_T149M,Missense_T168M exm1197317 16 681414 [T/G] NM_053284 WFIKKN1 EXON Missense_S54I exm1197326 16 682670 [T/C] NM_053284 WFIKKN1 EXON Missense_P87L exm1197327 16 682673 [T/C] NM_053284 WFIKKN1 EXON Missense_T88M exm1197332 16 682738 [A/G] NM_053284 WFIKKN1 EXON Missense_G110R exm1197357 16 683078 [C/G] NM_053284 WFIKKN1 EXON Missense_S223T exm1197370 16 683399 [T/C] NM_053284 WFIKKN1 EXON Missense_P330L exm1197389 16 683852 [T/C] NM_053284 WFIKKN1 EXON Missense_T481M exm1197392 16 683905 [A/G] NM_053284 WFIKKN1 EXON Missense_G499R exm1197394 16 683932 [T/C] NM_053284 WFIKKN1 EXON Missense_R508C exm1197396 16 683959 [A/G] NM_053284 WFIKKN1 EXON Missense_G517S exm1197407 16 684561 [A/G] NM_001040161,NM_001040160,NM_001040165,NM_032366,NM_001040162 C16orf13,C16orf13,C16orf13,C16orf13,C16orf13 EXON Silent,Missense_R195W,Missense_R175W,Silent,Silent exm1197409 16 684579 [T/C] NM_001040161,NM_001040160,NM_001040165,NM_032366,NM_001040162 C16orf13,C16orf13,C16orf13,C16orf13,C16orf13 EXON Silent,Missense_A189T,Missense_A169T,Silent,Silent exm1197410 16 684590 [A/G] NM_001040161,NM_001040160,NM_001040165,NM_032366,NM_001040162 C16orf13,C16orf13,C16orf13,C16orf13,C16orf13 EXON Silent,Missense_S185F,Missense_S165F,Silent,Silent exm1197421 16 684935 [T/G] NM_001040161,NM_001040160,NM_001040165,NM_032366,NM_001040162 C16orf13,C16orf13,C16orf13,C16orf13,C16orf13 EXON Silent,Silent,Silent,Missense_I148L,Silent exm1197425 16 685303 [T/C] NM_001040161,NM_001040160,NM_001040165,NM_032366,NM_001040162 C16orf13,C16orf13,C16orf13,C16orf13,C16orf13 EXON Silent,Missense_R133K,Silent,Missense_R133K,Missense_G79R exm1197426 16 685313 [A/G] NM_001040161,NM_001040160,NM_001040165,NM_032366,NM_001040162 C16orf13,C16orf13,C16orf13,C16orf13,C16orf13 EXON Silent,Missense_L130F,Silent,Missense_L130F,Synonymous_C75C exm1197427 16 685332 [A/G] NM_001040161,NM_001040160,NM_001040165,NM_032366,NM_001040162 C16orf13,C16orf13,C16orf13,C16orf13,C16orf13 EXON Silent,Synonymous_F123F,Silent,Synonymous_F123F,Missense_S69L exm1197428 16 685339 [T/C] NM_001040161,NM_001040160,NM_001040165,NM_032366,NM_001040162 C16orf13,C16orf13,C16orf13,C16orf13,C16orf13 EXON Silent,Missense_G121E,Silent,Missense_G121E,Missense_G67S exm1197459 16 697443 [A/G] NM_138418 FAM195A EXON Missense_R70H exm1197461 16 697457 [T/C] NM_138418 FAM195A EXON Missense_R75W exm1197514 16 700622 [T/C] NM_145294 WDR90 EXON Missense_R158W exm1197516 16 700644 [C/G] NM_145294 WDR90 EXON Missense_S165T exm1197531 16 701103 [A/G] NM_145294 WDR90 EXON Missense_R223Q exm1197532 16 701217 [T/G] NM_145294 WDR90 EXON Missense_L229F exm1197543 16 701656 [T/C] NM_145294 WDR90 EXON Missense_P250L exm1197546 16 701703 [T/C] NM_145294 WDR90 EXON Missense_R266W exm1197549 16 701731 [T/C] NM_145294 WDR90 EXON Missense_T275M exm1197556 16 701903 [T/C] NM_145294 WDR90 EXON Missense_A306V exm1197572 16 702524 [A/G] NM_145294 WDR90 EXON Missense_G371S exm1197584 16 703531 [A/G] NM_145294 WDR90 EXON Missense_A414T exm1197590 16 703618 [A/G] NM_145294 WDR90 EXON Missense_G443R exm1197591 16 703621 [T/C] NM_145294 WDR90 EXON Missense_R444W exm1197592 16 703622 [A/G] NM_145294 WDR90 EXON Missense_R444Q exm1197593 16 703648 [A/G] NM_145294 WDR90 EXON Missense_M453V exm1197615 16 705125 [G/C] NM_145294 WDR90 EXON Missense_V512L exm1197616 16 705128 [A/G] NM_145294 WDR90 EXON Missense_T513A exm1197623 16 705345 [A/G] NM_145294 WDR90 EXON Missense_R532Q exm1197626 16 705360 [T/C] NM_145294 WDR90 EXON Missense_V537A exm1197633 16 705587 [A/G] NM_145294 WDR90 EXON Missense_R578H exm1197640 16 705644 [A/G] NM_145294 WDR90 EXON Missense_R597H exm1866575 16 705658 [T/C] NM_145294 WDR90 EXON Missense_R602W exm1197647 16 705854 [A/G] NM_145294 WDR90 EXON Nonsense_W644X exm1197661 16 706424 [T/C] NM_145294 WDR90 EXON Missense_R697C exm1197663 16 706436 [A/G] NM_145294 WDR90 EXON Missense_A701T exm1197670 16 706508 [T/C] NM_145294 WDR90 EXON Missense_R725C exm1197676 16 706763 [T/C] NM_145294 WDR90 EXON Missense_P745L exm1197682 16 706846 [A/G] NM_145294 WDR90 EXON Missense_A773T exm1197686 16 707099 [A/G] NM_145294 WDR90 EXON Missense_R784Q exm1197688 16 707113 [A/G] NM_145294 WDR90 EXON Missense_G789S exm1197715 16 708275 [A/C] NM_145294 WDR90 EXON Missense_H899Q exm1197719 16 708331 [A/G] NM_145294 WDR90 EXON Missense_R918H exm1197726 16 708562 [T/C] NM_145294 WDR90 EXON Missense_T935M exm1197731 16 708597 [A/G] NM_145294 WDR90 EXON Missense_A947T exm1197735 16 708912 [T/C] NM_145294 WDR90 EXON Missense_S971L exm1197740 16 709001 [A/C] NM_145294 WDR90 EXON Missense_P1001T exm1197741 16 709086 [T/C] NM_145294 WDR90 EXON Synonymous_S1004S exm1197755 16 709329 [C/G] NM_145294 WDR90 EXON Missense_S1046C exm1197757 16 709373 [A/G] NM_145294 WDR90 EXON Missense_D1061N exm1197778 16 711429 [T/C] NM_145294 WDR90 EXON Missense_L1201F exm2252706 16 711634 [A/G] NM_145294 WDR90 EXON Synonymous_T1237T exm1197786 16 711669 [T/C] NM_145294 WDR90 EXON Missense_P1249L exm1197789 16 711698 [A/C] NM_145294 WDR90 EXON Missense_P1259T exm1197794 16 711729 [A/G] NM_145294 WDR90 EXON Missense_G1269D exm1197795 16 711759 [A/G] NM_145294 WDR90 EXON Missense_Q1279R exm1197798 16 711765 [A/G] NM_145294 WDR90 EXON Missense_R1281H exm1197799 16 711895 [A/G] NM_145294 WDR90 EXON Missense_R1290H exm-rs2301426 16 711905 [A/G] NM_145294 WDR90 EXON Synonymous_P1293P exm1866941 16 711958 [G/C] NM_145294 WDR90 EXON Missense_P1311R exm1197806 16 712020 [T/C] NM_145294 WDR90 EXON Missense_R1332C exm1197818 16 712288 [A/G] NM_145294 WDR90 EXON Missense_V1368M exm1197829 16 712803 [A/G] NM_145294 WDR90 EXON Missense_E1424K exm1197852 16 715745 [T/C] NM_145294 WDR90 EXON Missense_R1460W exm1197871 16 716270 [T/C] NM_145294 WDR90 EXON Missense_P1554S exm1197872 16 716273 [T/C] NM_145294 WDR90 EXON Missense_C1555R exm1197876 16 716321 [A/G] NM_145294 WDR90 EXON Missense_I1571V exm1197882 16 716512 [T/C] NM_145294 WDR90 EXON Missense_R1600W exm1197885 16 716543 [A/G] NM_145294 WDR90 EXON Missense_R1610Q exm1197892 16 716676 [T/C] NM_145294 WDR90 EXON Nonsense_Q1630X exm1197923 16 718533 [A/C] NM_138769 RHOT2 EXON Missense_P48T exm1197928 16 719592 [A/G] NM_138769 RHOT2 EXON Missense_A88T exm1197929 16 719593 [T/C] NM_138769 RHOT2 EXON Missense_A88V exm1197945 16 720321 [G/C] NM_138769 RHOT2 EXON Missense_I134M exm1197952 16 720460 [T/C] NM_138769 RHOT2 EXON Missense_S148L exm2252713 16 720467 [A/G] NM_138769 RHOT2 EXON Synonymous_K150K exm1197959 16 720517 [T/G] NM_138769 RHOT2 EXON Missense_L167R exm1197972 16 720742 [T/C] NM_138769 RHOT2 EXON Missense_A203V exm1197974 16 720753 [A/G] NM_138769 RHOT2 EXON Missense_E207K exm1197995 16 721127 [A/G] NM_138769 RHOT2 EXON Missense_E265K exm1198009 16 721762 [T/C] NM_138769 RHOT2 EXON Missense_V312A exm1198011 16 721780 [A/G] NM_138769 RHOT2 EXON Missense_Q318R exm1198027 16 721965 [A/G] NM_138769 RHOT2 EXON Missense_G354S exm1198030 16 722111 [G/C] NM_138769 RHOT2 EXON Missense_S375R exm1198034 16 722259 [T/C] NM_138769 RHOT2 EXON Missense_R401C exm1198038 16 722331 [T/C] NM_138769 RHOT2 EXON Missense_R425C exm1198043 16 722376 [A/G] NM_138769 RHOT2 EXON Missense_G440S exm1198044 16 722499 [T/C] NM_138769 RHOT2 EXON Missense_T446M exm1198046 16 722510 [T/C] NM_138769 RHOT2 EXON Missense_P450S exm1867602 16 722734 [T/C] NM_138769 RHOT2 EXON Missense_A479V exm1198059 16 722817 [A/G] NM_138769 RHOT2 EXON Missense_V507I exm1198062 16 722958 [T/C] NM_138769 RHOT2 EXON Missense_L520F exm1198066 16 722997 [A/G] NM_138769 RHOT2 EXON Missense_A533T exm1198068 16 723021 [A/G] NM_138769 RHOT2 EXON Missense_E541K exm2277103 16 726120 [C/G] NM_003961 RHBDL1 EXON Missense_G7R exm1198084 16 726121 [C/G] NM_003961 RHBDL1 EXON Missense_G7A exm1198086 16 726189 [T/C] NM_003961 RHBDL1 EXON Nonsense_Q30X exm1198088 16 726236 [G/C] NM_003961 RHBDL1 EXON Missense_C45W exm1198090 16 726301 [A/G] NM_003961 RHBDL1 EXON Missense_R67H exm2252716 16 726347 [T/C] NM_003961 RHBDL1 EXON Synonymous_P82P exm1198097 16 726376 [C/G] NM_003961 RHBDL1 EXON Missense_T92S exm1198105 16 726735 [T/C] NM_003961 RHBDL1 EXON Missense_R154W exm1198119 16 726999 [A/G] NM_003961 RHBDL1 EXON Missense_R217H exm1198124 16 727088 [T/C] NM_003961 RHBDL1 EXON Missense_R247C exm1198142 16 727993 [A/G] NM_003961 RHBDL1 EXON Missense_V420I exm1198157 16 731318 [A/G] NM_005861 STUB1 EXON Missense_S109N exm1198161 16 731512 [A/C] NM_005861 STUB1 EXON Missense_K145Q exm1198172 16 731811 [T/G] NM_005861,NM_001005920 STUB1,JMJD8 EXON Missense_Q181H,Silent exm1198176 16 731845 [A/G] NM_005861,NM_001005920 STUB1,JMJD8 EXON Missense_V193I,Silent exm1198198 16 732799 [T/C] NM_001005920 JMJD8 EXON Missense_G285S exm1198202 16 732840 [A/G] NM_001005920 JMJD8 EXON Missense_T271M exm1198207 16 732964 [A/G] NM_001005920 JMJD8 EXON Missense_R256W exm1867858 16 733017 [T/C] NM_001005920 JMJD8 EXON Missense_R238Q exm1198218 16 733399 [A/G] NM_001005920 JMJD8 EXON Missense_A166V exm1198221 16 733424 [G/C] NM_001005920 JMJD8 EXON Missense_G158R exm1198222 16 733441 [T/G] NM_001005920 JMJD8 EXON Missense_D152A exm1198227 16 733572 [T/C] NM_001005920 JMJD8 EXON Missense_E138K exm1198233 16 733757 [C/G] NM_001005920 JMJD8 EXON Missense_D105H exm1198241 16 734065 [A/C] NM_001005920 JMJD8 Silent exm1198270 16 735350 [C/G] NM_032259 WDR24 EXON Missense_H642Q exm1198278 16 735435 [A/G] NM_032259 WDR24 EXON Missense_F614S exm1198279 16 735453 [A/G] NM_032259 WDR24 EXON Missense_A608V exm1198284 16 735679 [A/G] NM_032259 WDR24 EXON Missense_P560S exm1198303 16 736080 [A/G] NM_032259 WDR24 EXON Missense_P480L exm1198316 16 736848 [A/G] NM_032259 WDR24 EXON Missense_R410C exm1198320 16 736908 [T/C] NM_032259 WDR24 EXON Missense_A390T exm1198322 16 736923 [T/G] NM_032259 WDR24 EXON Missense_P385T exm1198325 16 736998 [T/C] NM_032259 WDR24 EXON Missense_V360M exm1198357 16 739161 [T/C] NM_032259 WDR24 EXON Synonymous_S160S exm2252728 16 747013 [C/G] NM_153350 FBXL16 EXON Synonymous_P131P exm1198451 16 767164 [T/C] NM_024042 METRN EXON Missense_P220L exm1198454 16 767179 [T/C] NM_024042 METRN EXON Missense_A225V exm1198479 16 771703 [A/G] NM_001271285,NM_023933 FAM173A,FAM173A Silent,Silent exm1198490 16 772126 [T/C] NM_001271285,NM_023933 FAM173A,FAM173A EXON Silent,Missense_P151S exm1198500 16 772447 [T/C] NM_001271285,NM_023933 FAM173A,FAM173A EXON Missense_P183S,Missense_P200S exm1198521 16 772978 [T/C] NM_001031737 CCDC78 EXON Missense_R414Q exm1198523 16 772985 [T/C] NM_001031737 CCDC78 EXON Missense_G412R exm1868826 16 772988 [A/C] NM_001031737 CCDC78 EXON Missense_S411A exm1198525 16 773003 [T/C] NM_001031737 CCDC78 EXON Missense_G406R exm1198527 16 773105 [T/C] NM_001031737 CCDC78 EXON Missense_R397H exm1198537 16 773887 [T/C] NM_001031737 CCDC78 EXON Missense_G368E exm1198540 16 773930 [T/C] NM_001031737 CCDC78 EXON Missense_G354R exm1198548 16 774116 [T/C] NM_001031737 CCDC78 EXON Missense_R348Q exm1198551 16 774193 [T/G] NM_001031737 CCDC78 EXON Missense_N322K exm1198563 16 774386 [A/G] NM_001031737 CCDC78 EXON Missense_R297C exm1198568 16 774464 [A/G] NM_001031737 CCDC78 EXON Missense_R271W exm1198570 16 774472 [A/G] NM_001031737 CCDC78 EXON Missense_T268M exm1198571 16 774494 [T/C] NM_001031737 CCDC78 EXON Missense_A261T exm1198573 16 774691 [T/C] NM_001031737 CCDC78 EXON Nonsense_W252X exm1198574 16 774692 [A/G] NM_001031737 CCDC78 EXON Missense_W252R exm1198576 16 774709 [T/C] NM_001031737 CCDC78 EXON Missense_R246Q exm1198591 16 774975 [T/C] NM_001031737 CCDC78 EXON Missense_R192Q exm1198596 16 775084 [A/G] NM_001031737 CCDC78 EXON Missense_T185M exm1198603 16 775236 [T/C] NM_001031737 CCDC78 Silent exm1198604 16 775237 [A/G] NM_001031737 CCDC78 EXON Synonymous_G164G exm1868943 16 775239 [T/C] NM_001031737 CCDC78 EXON Missense_G164S exm1198606 16 775257 [A/G] NM_001031737 CCDC78 EXON Nonsense_Q158X exm1198609 16 775293 [A/C] NM_001031737 CCDC78 EXON Missense_V146L exm1198612 16 775464 [A/C] NM_001031737 CCDC78 EXON Missense_E128D exm1198613 16 775480 [T/C] NM_001031737 CCDC78 EXON Missense_R123Q exm1198616 16 775540 [T/C] NM_001031737 CCDC78 EXON Missense_R103Q exm1868956 16 775815 [T/G] NM_001031737 CCDC78 EXON Missense_E82D exm1198620 16 775861 [T/C] NM_001031737 CCDC78 EXON Missense_D67G exm1198623 16 775878 [G/C] NM_001031737 CCDC78 EXON Missense_I61M exm1198629 16 776037 [T/C] NM_001031737 CCDC78 EXON Missense_A37T exm1198639 16 776308 [A/G] NM_001031737 CCDC78 EXON Synonymous_N20N exm1198643 16 776345 [T/C] NM_001031737 CCDC78 EXON Missense_G8D exm1198648 16 777566 [C/G] NM_032304 HAGHL EXON Missense_E19D exm1198662 16 778372 [T/G] NM_032304 HAGHL EXON Missense_M115I exm1198669 16 778597 [A/C] NM_032304 HAGHL EXON Missense_P164H exm1198717 16 780517 [T/C] NM_022493 NARFL EXON Missense_H444R exm1198720 16 780545 [T/C] NM_022493 NARFL EXON Missense_A435T exm1198725 16 780575 [T/C] NM_022493 NARFL EXON Missense_G425S exm2276409 16 780615 [A/C] NM_022493 NARFL EXON Missense_R411S exm1198729 16 780861 [T/C] NM_022493 NARFL EXON Missense_V392I exm1198734 16 780942 [T/C] NM_022493 NARFL EXON Missense_A365T exm1198742 16 781623 [A/G] NM_022493 NARFL EXON Missense_H326Y exm1198751 16 782361 [A/C] NM_022493 NARFL EXON Missense_R279M exm1198753 16 782365 [A/G] NM_022493 NARFL EXON Missense_F278L exm1198760 16 783400 [T/C] NM_022493 NARFL EXON Missense_V241I exm1198762 16 784240 [T/C] NM_022493 NARFL EXON Missense_A228T exm1198781 16 784800 [A/G] NM_022493 NARFL EXON Missense_R171W exm1198782 16 784803 [A/C] NM_022493 NARFL EXON Missense_V170L exm1198792 16 786321 [A/C] NM_022493 NARFL EXON Missense_F128L exm1198802 16 787218 [T/C] NM_022493 NARFL EXON Missense_E92K exm1198810 16 787293 [A/G] NM_022493 NARFL EXON Missense_S67P exm1198811 16 787316 [T/C] NM_022493 NARFL EXON Missense_R59Q exm1198813 16 789693 [T/C] NM_022493 NARFL EXON Missense_V38M exm1869546 16 812700 [A/G] NM_005823,NM_001177355,NM_013404 MSLN,MSLN,MSLN EXON Missense_R7Q,Missense_R7Q,Missense_R7Q exm1198826 16 813260 [T/C] NM_005823,NM_001177355,NM_013404 MSLN,MSLN,MSLN EXON Missense_A38V,Missense_A38V,Missense_A38V exm1198831 16 813692 [A/G] NM_005823,NM_001177355,NM_013404 MSLN,MSLN,MSLN Silent,Silent,Silent exm1198834 16 814058 [T/C] NM_005823,NM_001177355,NM_013404 MSLN,MSLN,MSLN EXON Missense_A72V,Missense_A72V,Missense_A72V exm1198837 16 814069 [A/G] NM_005823,NM_001177355,NM_013404 MSLN,MSLN,MSLN EXON Missense_G76S,Missense_G76S,Missense_G76S exm1198844 16 814677 [A/C] NM_005823,NM_001177355,NM_013404 MSLN,MSLN,MSLN EXON Missense_P111T,Missense_P111T,Missense_P111T exm1198846 16 814683 [A/G] NM_005823,NM_001177355,NM_013404 MSLN,MSLN,MSLN EXON Missense_E113K,Missense_E113K,Missense_E113K exm1198847 16 814698 [G/C] NM_005823,NM_001177355,NM_013404 MSLN,MSLN,MSLN EXON Missense_L118V,Missense_L118V,Missense_L118V exm1198851 16 814942 [A/G] NM_005823,NM_001177355,NM_013404 MSLN,MSLN,MSLN EXON Missense_R139H,Missense_R139H,Missense_R139H exm1198852 16 814954 [A/G] NM_005823,NM_001177355,NM_013404 MSLN,MSLN,MSLN EXON Missense_R143H,Missense_R143H,Missense_R143H exm1198878 16 815549 [T/C] NM_005823,NM_001177355,NM_013404 MSLN,MSLN,MSLN EXON Missense_S243P,Missense_S243P,Missense_S243P exm1198881 16 815565 [T/C] NM_005823,NM_001177355,NM_013404 MSLN,MSLN,MSLN EXON Missense_L248P,Missense_L248P,Missense_L248P exm1198894 16 815740 [A/G] NM_005823,NM_001177355,NM_013404 MSLN,MSLN,MSLN EXON Missense_R282Q,Missense_R282Q,Missense_R282Q exm1198900 16 815775 [T/C] NM_005823,NM_001177355,NM_013404 MSLN,MSLN,MSLN EXON Missense_R294W,Missense_R294W,Missense_R294W exm1198901 16 815778 [T/C] NM_005823,NM_001177355,NM_013404 MSLN,MSLN,MSLN EXON Missense_R295W,Missense_R295W,Missense_R295W exm1198902 16 815781 [A/G] NM_005823,NM_001177355,NM_013404 MSLN,MSLN,MSLN EXON Missense_E296K,Missense_E296K,Missense_E296K exm1869671 16 816089 [A/G] NM_005823,NM_001177355,NM_013404 MSLN,MSLN,MSLN EXON Missense_R309H,Missense_R309H,Missense_R309H exm1198907 16 816149 [T/C] NM_005823,NM_001177355,NM_013404 MSLN,MSLN,MSLN EXON Missense_A329V,Missense_A329V,Missense_A329V exm1198910 16 816202 [A/G] NM_005823,NM_001177355,NM_013404 MSLN,MSLN,MSLN EXON Missense_E347K,Missense_E347K,Missense_E347K exm1198922 16 816429 [T/C] NM_005823,NM_001177355,NM_013404 MSLN,MSLN,MSLN EXON Missense_T390M,Missense_T390M,Missense_T390M exm1198925 16 816464 [A/G] NM_005823,NM_001177355,NM_013404 MSLN,MSLN,MSLN EXON Missense_N402D,Missense_N402D,Missense_N402D exm1198945 16 816896 [T/C] NM_005823,NM_001177355,NM_013404 MSLN,MSLN,MSLN EXON Missense_P462L,Missense_P462L,Missense_P470L exm1198950 16 816934 [A/G] NM_005823,NM_001177355,NM_013404 MSLN,MSLN,MSLN EXON Missense_V475I,Missense_V475I,Missense_V483I exm1198952 16 816952 [T/C] NM_005823,NM_001177355,NM_013404 MSLN,MSLN,MSLN EXON Missense_R481C,Missense_R481C,Missense_R489C exm1198953 16 816973 [A/G] NM_005823,NM_001177355,NM_013404 MSLN,MSLN,MSLN EXON Missense_N488D,Missense_N488D,Missense_N496D exm1198960 16 817388 [T/C] NM_005823,NM_001177355,NM_013404 MSLN,MSLN,MSLN EXON Missense_T505M,Missense_T505M,Missense_T513M exm2252763 16 817413 [A/G] NM_005823,NM_001177355,NM_013404 MSLN,MSLN,MSLN EXON Synonymous_Q513Q,Synonymous_Q513Q,Synonymous_Q521Q exm1198968 16 817463 [T/C] NM_005823,NM_001177355,NM_013404 MSLN,MSLN,MSLN EXON Missense_A530V,Missense_A530V,Missense_A538V exm1198969 16 818380 [T/C] NM_005823,NM_001177355,NM_013404 MSLN,MSLN,MSLN EXON Missense_P533L,Missense_P533L,Missense_P541L exm1198971 16 818421 [A/G] NM_005823,NM_001177355,NM_013404 MSLN,MSLN,MSLN EXON Missense_V547M,Missense_V547M,Missense_V555M exm1198973 16 818436 [A/G] NM_005823,NM_001177355,NM_013404 MSLN,MSLN,MSLN EXON Missense_A552T,Missense_A552T,Missense_A560T exm2225418 16 818446 [A/G] NM_005823,NM_001177355,NM_013404 MSLN,MSLN,MSLN EXON Missense_R555Q,Missense_R555Q,Missense_R563Q exm1198977 16 818452 [A/G] NM_005823,NM_001177355,NM_013404 MSLN,MSLN,MSLN EXON Missense_R557H,Missense_R557H,Missense_R565H exm1198987 16 818523 [A/G] NM_005823,NM_001177355,NM_013404 MSLN,MSLN,MSLN EXON Missense_G581S,Missense_G581S,Missense_G589S exm1198998 16 818678 [A/G] NM_005823,NM_001177355,NM_013404 MSLN,MSLN,MSLN EXON Missense_G605E,Missense_G605E,Missense_G613E exm1198999 16 818687 [T/C] NM_005823,NM_001177355,NM_013404 MSLN,MSLN,MSLN EXON Missense_P608L,Missense_P608L,Missense_P616L exm1199000 16 818689 [A/G] NM_005823,NM_001177355,NM_013404 MSLN,MSLN,MSLN EXON Missense_V609I,Missense_V609I,Missense_V617I exm1199002 16 818698 [A/G] NM_005823,NM_001177355,NM_013404 MSLN,MSLN,MSLN EXON Missense_V612I,Missense_V612I,Missense_V620I exm1199007 16 819441 [G/C] exm1199025 16 820109 [A/G] exm1199038 16 820215 [A/T] NR_030384 MIR662 EXON Silent exm1199040 16 820265 [A/G] NR_030384 MIR662 EXON Silent exm1199045 16 820576 [T/C] exm1199046 16 820584 [T/G] exm1199047 16 820603 [A/G] exm2252768 16 820622 [A/G] exm1199055 16 820888 [T/C] exm1199056 16 820893 [T/C] exm1199057 16 820903 [T/C] exm1199058 16 820938 [A/G] exm1199074 16 822967 [T/C] exm1199075 16 822973 [T/C] exm1199085 16 823158 [A/G] exm1199091 16 823269 [T/C] exm1199099 16 824270 [A/C] exm1869957 16 824427 [T/G] exm1199107 16 824473 [A/G] exm2252769 16 824841 [T/C] exm1199116 16 824884 [T/C] exm1199118 16 824927 [T/C] exm1199126 16 825003 [T/G] exm1199140 16 825234 [T/C] exm1199144 16 825255 [A/G] exm1199148 16 825427 [A/G] exm1199153 16 825451 [A/G] exm1199160 16 825514 [T/C] exm1199170 16 825586 [T/C] exm1199175 16 825613 [T/C] exm1199177 16 825628 [A/G] exm1199180 16 825663 [T/G] exm1199184 16 828760 [C/G] exm1199185 16 830046 [A/C] exm1199188 16 830094 [T/C] exm1199189 16 830162 [T/C] exm1199192 16 830193 [T/C] exm1869972 16 830250 [A/G] exm-IND16-770560 16 830560 [D/I] exm1199226 16 830612 [A/G] exm1199228 16 830639 [A/G] exm1199273 16 832037 [A/C] exm1199281 16 835969 [A/G] NM_058192 RPUSD1 EXON Missense_T307M exm1199292 16 836111 [T/G] NM_058192 RPUSD1 EXON Missense_P260T exm1199316 16 836272 [A/G] NM_058192 RPUSD1 EXON Missense_M206T exm1199322 16 836321 [T/C] NM_058192 RPUSD1 EXON Missense_D190N exm1870021 16 836828 [T/C] NM_058192 RPUSD1 EXON Synonymous_T170T exm1199337 16 837082 [A/G] NM_058192 RPUSD1 EXON Missense_S135L exm1199339 16 837116 [C/G] NM_058192 RPUSD1 EXON Missense_E124Q exm1199345 16 837165 [G/C] NM_058192 RPUSD1 EXON Missense_I107M exm1199352 16 837376 [A/G] NM_058192 RPUSD1 EXON Missense_V95A exm1199366 16 837600 [G/C] NM_058192 RPUSD1 EXON Nonsense_Y46X exm1199369 16 837642 [G/C] NM_058192 RPUSD1 EXON Missense_K32N exm1199381 16 838713 [A/G] NM_022092 CHTF18 EXON Missense_G10D exm1199396 16 839212 [T/C] NM_022092 CHTF18 EXON Missense_P97S exm1199401 16 839269 [A/G] NM_022092 CHTF18 EXON Missense_E116K exm1199404 16 839297 [T/C] NM_022092 CHTF18 EXON Missense_S125F exm1199411 16 839548 [A/G] NM_022092 CHTF18 EXON Missense_V147I exm1199415 16 839581 [C/G] NM_022092 CHTF18 EXON Missense_R158G exm1199416 16 839600 [A/G] NM_022092 CHTF18 EXON Missense_R164H exm1870101 16 839626 [A/G] NM_022092 CHTF18 EXON Missense_I173V exm1199420 16 839627 [T/C] NM_022092 CHTF18 EXON Missense_I173T exm1199425 16 839666 [T/G] NM_022092 CHTF18 EXON Missense_V186G exm1199426 16 839668 [T/C] NM_022092 CHTF18 EXON Missense_R187W exm1199441 16 840190 [A/C] NM_022092 CHTF18 EXON Missense_H207P exm1199448 16 840267 [A/G] NM_022092 CHTF18 EXON Missense_E233K exm1199449 16 840270 [A/G] NM_022092 CHTF18 Silent exm1199451 16 840347 [T/C] NM_022092 CHTF18 EXON Missense_R234W exm1199454 16 840351 [A/G] NM_022092 CHTF18 EXON Missense_R235Q exm1199457 16 840378 [A/G] NM_022092 CHTF18 EXON Missense_K244R exm1199463 16 840532 [T/C] NM_022092 CHTF18 EXON Missense_S254P exm1199464 16 840548 [T/C] NM_022092 CHTF18 EXON Missense_A259V exm1199466 16 840569 [T/C] NM_022092 CHTF18 EXON Missense_P266L exm1199468 16 840580 [T/C] NM_022092 CHTF18 EXON Missense_P270S exm1199472 16 840599 [T/C] NM_022092 CHTF18 EXON Missense_A276V exm1199475 16 840607 [C/G] NM_022092 CHTF18 EXON Missense_H279D exm1199476 16 840624 [A/T] NM_022092 CHTF18 EXON Missense_D284E exm1199477 16 840628 [T/C] NM_022092 CHTF18 EXON Missense_F286L exm1199491 16 841233 [C/G] NM_022092 CHTF18 EXON Missense_R323G exm1199498 16 841311 [T/C] NM_022092 CHTF18 EXON Nonsense_Q349X exm1199503 16 841909 [T/C] NM_022092 CHTF18 EXON Missense_A388V exm1199512 16 842249 [T/C] NM_022092 CHTF18 EXON Missense_R410C exm1199515 16 842256 [A/G] NM_022092 CHTF18 EXON Missense_R412H exm1199526 16 842508 [T/G] NM_022092 CHTF18 EXON Missense_A466S exm1199531 16 842550 [T/G] NM_022092 CHTF18 EXON Missense_G480W exm1199544 16 843014 [T/C] NM_022092 CHTF18 EXON Missense_L541F exm1199549 16 843165 [T/C] NM_022092 CHTF18 EXON Missense_R565W exm1199550 16 843183 [A/G] NM_022092 CHTF18 EXON Missense_D571N exm1199552 16 843199 [T/G] NM_022092 CHTF18 EXON Missense_R576L exm1199558 16 843247 [A/G] NM_022092 CHTF18 EXON Missense_E592G exm1199563 16 844059 [A/G] NM_022092 CHTF18 EXON Missense_R603H exm1870717 16 844064 [A/G] NM_022092 CHTF18 EXON Missense_G605S exm1199569 16 844116 [T/C] NM_022092 CHTF18 EXON Missense_A622V exm1199589 16 845229 [T/C] NM_022092 CHTF18 EXON Missense_A683V exm1199597 16 845730 [T/G] NM_022092 CHTF18 EXON Missense_V741L exm1199598 16 845742 [A/G] NM_022092 CHTF18 EXON Missense_A745T exm1199601 16 845754 [T/C] NM_022092 CHTF18 EXON Missense_R749C exm1199604 16 845761 [A/G] NM_022092 CHTF18 EXON Missense_R751Q exm1199610 16 845797 [C/G] NM_022092 CHTF18 EXON Missense_C763S exm2252784 16 845819 [A/G] NM_022092 CHTF18 EXON Synonymous_A770A exm1199615 16 845834 [T/C] NM_022092 CHTF18 EXON Synonymous_P775P exm1199616 16 845985 [C/G] NM_022092 CHTF18 EXON Missense_Q788H exm1199623 16 846005 [T/C] NM_022092 CHTF18 EXON Missense_T795M exm1870925 16 846014 [A/C] NM_022092 CHTF18 EXON Missense_A798D exm1199625 16 846031 [T/C] NM_022092 CHTF18 EXON Missense_R804C exm1199633 16 846757 [T/C] NM_022092 CHTF18 EXON Missense_R833C exm1199640 16 846797 [A/G] NM_022092 CHTF18 EXON Missense_R846H exm1199645 16 846824 [A/G] NM_022092 CHTF18 EXON Missense_R855Q exm1199657 16 847033 [G/C] NM_022092 CHTF18 EXON Missense_P892A exm1199658 16 847075 [A/G] NM_022092 CHTF18 EXON Missense_A906T exm1199666 16 847743 [T/C] NM_022092 CHTF18 EXON Missense_P928L exm1199671 16 847871 [T/C] NM_022092 CHTF18 EXON Missense_R942W exm1870998 16 847877 [A/G] NM_022092 CHTF18 EXON Missense_M944V exm1199673 16 847887 [T/C] NM_022092 CHTF18 EXON Missense_A947V exm1199676 16 847913 [T/C] NM_022092 CHTF18 EXON Missense_R956C exm1871056 16 848772 [T/C] NM_016541 GNG13 EXON Missense_D51N exm1199685 16 848781 [C/G] NM_016541 GNG13 EXON Missense_L48V exm1199696 16 849067 [T/C] NM_016541 GNG13 EXON Nonsense_W4X exm1199706 16 855591 [T/C] NM_001013638 PRR25 EXON Missense_T50I exm1199717 16 855672 [T/C] NM_001013638 PRR25 EXON Missense_T77I exm1199722 16 855717 [C/G] NM_001013638 PRR25 EXON Missense_T92S exm1199724 16 855732 [T/C] NM_001013638 PRR25 EXON Missense_A97V exm2252787 16 855805 [T/C] NM_001013638 PRR25 EXON Synonymous_P121P exm1199761 16 863422 [A/G] NM_001013638 PRR25 EXON Missense_R257Q exm1199764 16 863446 [A/G] NM_001013638 PRR25 EXON Missense_S265N exm1199767 16 863498 [C/G] NM_001013638 PRR25 EXON Missense_L282F exm1199772 16 863548 [A/G] NM_001013638 PRR25 EXON Missense_G299E exm1199776 16 863620 [C/G] NM_001013638 PRR25 EXON Missense_S323C exm1199791 16 904551 [C/G] NR_033646,NR_033645,NM_022773 LMF1,LMF1,LMF1 EXON Silent,Silent,Missense_P562R exm1199793 16 904599 [A/G] NR_033646,NR_033645,NM_022773 LMF1,LMF1,LMF1 EXON Silent,Silent,Missense_P546L exm2252825 16 904628 [A/C] NR_033646,NR_033645,NM_022773 LMF1,LMF1,LMF1 EXON Silent,Silent,Synonymous_V536V exm1199796 16 904643 [G/C] NR_033646,NR_033645,NM_022773 LMF1,LMF1,LMF1 EXON Silent,Silent,Missense_E531D exm1199798 16 904662 [T/C] NR_033646,NR_033645,NM_022773 LMF1,LMF1,LMF1 EXON Silent,Silent,Missense_G525E exm1199799 16 904668 [T/C] NR_033646,NR_033645,NM_022773 LMF1,LMF1,LMF1 EXON Silent,Silent,Missense_R523H exm1199802 16 904706 [T/C] NR_033646,NR_033645,NM_022773 LMF1,LMF1,LMF1 EXON Silent,Silent,Synonymous_R510R exm1199814 16 919894 [T/C] NR_033646,NR_033645,NM_022773 LMF1,LMF1,LMF1 EXON Silent,Silent,Missense_A469T exm1199819 16 919948 [A/G] NR_033646,NR_033645,NM_022773 LMF1,LMF1,LMF1 EXON Silent,Silent,Missense_R451W exm1199821 16 920002 [T/C] NR_033646,NR_033645,NM_022773 LMF1,LMF1,LMF1 EXON Silent,Silent,Missense_D433N exm1199823 16 920007 [T/G] NR_033646,NR_033645,NM_022773 LMF1,LMF1,LMF1 EXON Silent,Silent,Missense_A431D exm1874033 16 920008 [T/C] NR_033646,NR_033645,NM_022773 LMF1,LMF1,LMF1 EXON Silent,Silent,Missense_A431T exm1199831 16 920733 [T/C] NR_033646,NR_033645,NM_022773 LMF1,LMF1,LMF1 EXON Silent,Silent,Missense_G410R exm2274792 16 920777 [A/G] NR_033646,NR_033645,NM_022773 LMF1,LMF1,LMF1 EXON Silent,Silent,Missense_T395I exm1199836 16 920823 [T/C] NR_033646,NR_033645,NM_022773 LMF1,LMF1,LMF1 EXON Silent,Silent,Missense_V380M exm1199838 16 920844 [T/C] NR_033646,NR_033645,NM_022773 LMF1,LMF1,LMF1 EXON Silent,Silent,Missense_V373I exm1199843 16 920870 [T/C] NR_033646,NR_033645,NM_022773 LMF1,LMF1,LMF1 EXON Silent,Silent,Missense_R364Q exm1199847 16 921173 [T/C] NR_033646,NR_033645,NM_022773 LMF1,LMF1,LMF1 EXON Silent,Silent,Missense_E356K exm1199849 16 921179 [A/G] NR_033646,NR_033645,NM_022773 LMF1,LMF1,LMF1 EXON Silent,Silent,Missense_R354W exm1199850 16 921187 [T/C] NR_033646,NR_033645,NM_022773 LMF1,LMF1,LMF1 EXON Silent,Silent,Missense_R351Q exm1874046 16 921203 [T/C] NR_033646,NR_033645,NM_022773 LMF1,LMF1,LMF1 EXON Silent,Silent,Missense_M346V exm1199866 16 929630 [T/G] NR_033646,NR_033645,NM_022773 LMF1,LMF1,LMF1 EXON Silent,Silent,Missense_F279L exm2272414 16 931686 [T/C] NR_033646,NR_033645,NM_022773 LMF1,LMF1,LMF1 Silent,Silent,Silent exm1199879 16 943039 [A/G] NR_033646,NR_033645,NM_022773 LMF1,LMF1,LMF1 EXON Silent,Silent,Nonsense_R233X exm1199880 16 943047 [T/C] NR_033646,NR_033645,NM_022773 LMF1,LMF1,LMF1 EXON Silent,Silent,Missense_R230Q exm1199895 16 1004369 [A/G] NR_033646,NR_033645,NM_022773 LMF1,LMF1,LMF1 EXON Silent,Silent,Missense_V164A exm1199899 16 1004447 [C/G] NR_033646,NR_033645,NM_022773 LMF1,LMF1,LMF1 EXON Silent,Silent,Missense_S138C exm1199901 16 1004476 [G/C] NR_033646,NR_033645,NM_022773 LMF1,LMF1,LMF1 EXON Silent,Silent,Missense_L128F exm1199908 16 1004558 [G/C] NR_033646,NR_033645,NM_022773 LMF1,LMF1,LMF1 EXON Silent,Silent,Missense_R101T exm1199919 16 1004665 [A/G] NR_033646,NR_033645,NM_022773 LMF1,LMF1,LMF1 EXON Silent,Silent,Synonymous_F65F exm1199923 16 1020886 [A/G] NR_033646,NR_033645,NM_022773 LMF1,LMF1,LMF1 EXON Silent,Silent,Missense_A32V exm1199981 16 1035189 [A/G] NM_014587 SOX8 EXON Missense_D382N exm2252420 16 1049139 [A/G] exm1200019 16 1129010 [A/C] NM_001172560,NM_001053 SSTR5,SSTR5 EXON Missense_L48M,Missense_L48M exm1200020 16 1129023 [T/C] NM_001172560,NM_001053 SSTR5,SSTR5 EXON Missense_A52V,Missense_A52V exm1200034 16 1129193 [T/C] NM_001172560,NM_001053 SSTR5,SSTR5 EXON Missense_P109S,Missense_P109S exm1200041 16 1129290 [T/C] NM_001172560,NM_001053 SSTR5,SSTR5 EXON Missense_V141A,Missense_V141A exm1200064 16 1129466 [A/G] NM_001172560,NM_001053 SSTR5,SSTR5 EXON Missense_V200I,Missense_V200I exm2252428 16 1129525 [A/G] NM_001172560,NM_001053 SSTR5,SSTR5 EXON Synonymous_L219L,Synonymous_L219L exm1200079 16 1129586 [T/C] NM_001172560,NM_001053 SSTR5,SSTR5 EXON Missense_R240W,Missense_R240W exm1200086 16 1129610 [T/C] NM_001172560,NM_001053 SSTR5,SSTR5 EXON Missense_R248C,Missense_R248C exm1200088 16 1129620 [T/C] NM_001172560,NM_001053 SSTR5,SSTR5 EXON Missense_L251S,Missense_L251S exm1200095 16 1129688 [A/G] NM_001172560,NM_001053 SSTR5,SSTR5 EXON Missense_V274M,Missense_V274M exm1200096 16 1129703 [A/G] NM_001172560,NM_001053 SSTR5,SSTR5 EXON Missense_E279K,Missense_E279K exm1200102 16 1129848 [T/C] NM_001172560,NM_001053 SSTR5,SSTR5 EXON Missense_A327V,Missense_A327V exm1200104 16 1129866 [T/C] NM_001172560,NM_001053 SSTR5,SSTR5 EXON Missense_T333M,Missense_T333M exm1200106 16 1129872 [T/C] NM_001172560,NM_001053 SSTR5,SSTR5 EXON Missense_P335L,Missense_P335L exm1200114 16 1129937 [A/G] NM_001172560,NM_001053 SSTR5,SSTR5 EXON Missense_G357R,Missense_G357R exm1200121 16 1143547 [T/G] NM_207419 C1QTNF8 EXON Missense_Y238S exm1200123 16 1143577 [T/C] NM_207419 C1QTNF8 EXON Missense_N228S exm1200125 16 1143605 [A/C] NM_207419 C1QTNF8 EXON Missense_V219L exm1845893 16 1143614 [G/C] NM_207419 C1QTNF8 EXON Missense_A216P exm1200133 16 1143765 [G/C] NM_207419 C1QTNF8 EXON Missense_F165L exm1200150 16 1144744 [T/C] NM_207419 C1QTNF8 EXON Missense_R60Q exm1200174 16 1245057 [A/G] NM_001005407,NM_021098 CACNA1H,CACNA1H EXON Missense_G129S,Missense_G129S exm1200204 16 1248684 [T/G] NM_001005407,NM_021098 CACNA1H,CACNA1H EXON Missense_F238C,Missense_F238C exm1200214 16 1250261 [A/C] NM_001005407,NM_021098 CACNA1H,CACNA1H EXON Missense_N270T,Missense_N270T exm1200215 16 1250269 [A/T] NM_001005407,NM_021098 CACNA1H,CACNA1H EXON Missense_T273S,Missense_T273S exm1200217 16 1250278 [T/C] NM_001005407,NM_021098 CACNA1H,CACNA1H EXON Missense_R276W,Missense_R276W exm1200218 16 1250279 [A/G] NM_001005407,NM_021098 CACNA1H,CACNA1H EXON Missense_R276Q,Missense_R276Q exm1200227 16 1250378 [A/G] NM_001005407,NM_021098 CACNA1H,CACNA1H EXON Missense_R309H,Missense_R309H exm1200229 16 1250389 [A/G] NM_001005407,NM_021098 CACNA1H,CACNA1H EXON Missense_M313V,Missense_M313V exm1200233 16 1250446 [A/G] NM_001005407,NM_021098 CACNA1H,CACNA1H EXON Missense_A332T,Missense_A332T exm1200264 16 1251760 [A/G] NM_001005407,NM_021098 CACNA1H,CACNA1H EXON Missense_R437Q,Missense_R437Q exm1200277 16 1251886 [A/G] NM_001005407,NM_021098 CACNA1H,CACNA1H EXON Missense_Y479C,Missense_Y479C exm1200282 16 1251958 [A/G] NM_001005407,NM_021098 CACNA1H,CACNA1H EXON Missense_R503H,Missense_R503H exm1200283 16 1251963 [T/C] NM_001005407,NM_021098 CACNA1H,CACNA1H EXON Missense_R505C,Missense_R505C exm1200295 16 1252185 [A/G] NM_001005407,NM_021098 CACNA1H,CACNA1H EXON Missense_D579N,Missense_D579N exm1200310 16 1252303 [T/C] NM_001005407,NM_021098 CACNA1H,CACNA1H EXON Missense_P618L,Missense_P618L exm1200316 16 1252369 [T/C] NM_001005407,NM_021098 CACNA1H,CACNA1H EXON Missense_P640L,Missense_P640L exm1200325 16 1252441 [T/C] NM_001005407,NM_021098 CACNA1H,CACNA1H EXON Missense_V664A,Missense_V664A exm1200330 16 1254064 [T/C] NM_001005407,NM_021098 CACNA1H,CACNA1H EXON Missense_P686L,Missense_P686L exm1200339 16 1254153 [A/G] NM_001005407,NM_021098 CACNA1H,CACNA1H EXON Missense_G716S,Missense_G716S exm1200343 16 1254210 [T/C] NM_001005407,NM_021098 CACNA1H,CACNA1H EXON Missense_R735W,Missense_R735W exm1200356 16 1254345 [T/G] NM_001005407,NM_021098 CACNA1H,CACNA1H EXON Missense_V780F,Missense_V780F exm2274793 16 1254349 [A/C] NM_001005407,NM_021098 CACNA1H,CACNA1H EXON Missense_T781N,Missense_T781N exm1200360 16 1254361 [A/T] NM_001005407,NM_021098 CACNA1H,CACNA1H EXON Missense_K785M,Missense_K785M exm1200362 16 1254369 [T/C] NM_001005407,NM_021098 CACNA1H,CACNA1H EXON Missense_R788C,Missense_R788C exm1200364 16 1254375 [A/G] NM_001005407,NM_021098 CACNA1H,CACNA1H EXON Missense_V790M,Missense_V790M exm1200366 16 1254441 [A/G] NM_001005407,NM_021098 CACNA1H,CACNA1H EXON Missense_V812M,Missense_V812M exm1200372 16 1255202 [T/G] NM_001005407,NM_021098 CACNA1H,CACNA1H EXON Missense_C847F,Missense_C847F exm2252435 16 1256122 [T/G] NM_001005407,NM_021098 CACNA1H,CACNA1H EXON Synonymous_G874G,Synonymous_G874G exm1200382 16 1256126 [A/G] NM_001005407,NM_021098 CACNA1H,CACNA1H EXON Missense_A876T,Missense_A876T exm1200415 16 1257821 [A/G] NM_001005407,NM_021098 CACNA1H,CACNA1H EXON Missense_E1039K,Missense_E1039K exm1200424 16 1258064 [A/G] NM_001005407,NM_021098 CACNA1H,CACNA1H EXON Missense_R1069Q,Missense_R1069Q exm1200433 16 1258189 [A/G] NM_001005407,NM_021098 CACNA1H,CACNA1H EXON Missense_G1111R,Missense_G1111R exm1200437 16 1258220 [T/C] NM_001005407,NM_021098 CACNA1H,CACNA1H EXON Missense_P1121L,Missense_P1121L exm1200473 16 1260082 [T/G] NM_001005407,NM_021098 CACNA1H,CACNA1H EXON Missense_Q1264H,Missense_Q1264H exm1200480 16 1260449 [A/G] NM_001005407,NM_021098 CACNA1H,CACNA1H EXON Missense_V1309I,Missense_V1309I exm2252436 16 1260481 [T/C] NM_001005407,NM_021098 CACNA1H,CACNA1H EXON Synonymous_D1319D,Synonymous_D1319D exm1846338 16 1260793 [A/G] NM_001005407,NM_021098 CACNA1H,CACNA1H EXON Missense_A1349T,Missense_A1349T exm1200501 16 1260868 [A/G] NM_001005407,NM_021098 CACNA1H,CACNA1H EXON Missense_V1374M,Missense_V1374M exm1200532 16 1261550 [T/C] NM_001005407,NM_021098 CACNA1H,CACNA1H EXON Missense_R1474W,Missense_R1474W exm1200541 16 1261773 [A/G] NM_001005407,NM_021098 CACNA1H,CACNA1H EXON Missense_D1512N,Missense_D1512N exm1200552 16 1262093 [T/C] NM_001005407,NM_021098 CACNA1H,CACNA1H EXON Missense_R1572W,Missense_R1572W exm1200574 16 1263819 [T/C] NM_001005407,NM_021098 CACNA1H,CACNA1H EXON Missense_T1600M,Missense_T1606M exm1200588 16 1265315 [A/G] NM_001005407,NM_021098 CACNA1H,CACNA1H EXON Missense_A1699T,Missense_A1705T exm1846417 16 1268243 [T/C] NM_001005407,NM_021098 CACNA1H,CACNA1H EXON Missense_H1821Y,Missense_H1827Y exm1200627 16 1268376 [A/G] NM_001005407,NM_021098 CACNA1H,CACNA1H EXON Missense_R1865Q,Missense_R1871Q exm2224164 16 1268580 [T/C] NM_001005407,NM_021098 CACNA1H,CACNA1H EXON Missense_P1933L,Missense_P1939L exm1200654 16 1268589 [T/C] NM_001005407,NM_021098 CACNA1H,CACNA1H EXON Missense_A1936V,Missense_A1942V exm1200669 16 1269095 [T/C] NM_001005407,NM_021098 CACNA1H,CACNA1H EXON Missense_R1999C,Missense_R2005C exm1200673 16 1270111 [A/G] NM_001005407,NM_021098 CACNA1H,CACNA1H EXON Missense_R2054H,Missense_R2060H exm1200678 16 1270162 [A/G] NM_001005407,NM_021098 CACNA1H,CACNA1H EXON Missense_R2071H,Missense_R2077H exm1846434 16 1270449 [T/C] NM_001005407,NM_021098 CACNA1H,CACNA1H EXON Missense_P2167S,Missense_P2173S exm1200719 16 1270749 [T/C] NM_001005407,NM_021098 CACNA1H,CACNA1H EXON Missense_L2267F,Missense_L2273F exm1200720 16 1270780 [A/T] NM_001005407,NM_021098 CACNA1H,CACNA1H EXON Missense_D2277V,Missense_D2283V exm1200722 16 1270782 [A/G] NM_001005407,NM_021098 CACNA1H,CACNA1H EXON Missense_G2278S,Missense_G2284S exm1200741 16 1271890 [T/G] NM_012467 TPSG1 EXON Missense_F288L exm1200751 16 1271964 [A/G] NM_012467 TPSG1 EXON Missense_W264R exm1200752 16 1271970 [T/C] NM_012467 TPSG1 EXON Missense_V262M exm1200754 16 1271987 [A/G] NM_012467 TPSG1 EXON Missense_T256I exm1200759 16 1272038 [A/G] NM_012467 TPSG1 EXON Missense_T239I exm1200771 16 1272275 [T/C] NM_012467 TPSG1 EXON Missense_R193H exm1846457 16 1272276 [A/G] NM_012467 TPSG1 EXON Missense_R193C exm1200777 16 1272306 [T/C] NM_012467 TPSG1 EXON Missense_K183E exm1200780 16 1272314 [T/C] NM_012467 TPSG1 EXON Missense_R180Q exm1200787 16 1272329 [A/G] NM_012467 TPSG1 EXON Missense_P175L exm1200789 16 1272655 [T/C] NM_012467 TPSG1 EXON Missense_G170R exm1200791 16 1272661 [A/G] NM_012467 TPSG1 EXON Missense_R168W exm1200793 16 1272675 [T/C] NM_012467 TPSG1 EXON Missense_G163D exm1200794 16 1272676 [T/C] NM_012467 TPSG1 EXON Missense_G163S exm1200796 16 1272684 [G/C] NM_012467 TPSG1 EXON Missense_W160S exm1200805 16 1272750 [A/G] NM_012467 TPSG1 EXON Missense_S138F exm1200811 16 1272795 [T/C] NM_012467 TPSG1 EXON Missense_S123N exm1200818 16 1272901 [T/C] NM_012467 TPSG1 EXON Missense_D88N exm1200821 16 1273424 [T/C] NM_012467 TPSG1 EXON Missense_G82R exm1200823 16 1273444 [T/G] NM_012467 TPSG1 EXON Missense_T75K exm1200831 16 1273490 [T/C] NM_012467 TPSG1 EXON Missense_V60M exm1200840 16 1273549 [T/C] NM_012467 TPSG1 EXON Missense_G40E exm1200844 16 1273562 [T/C] NM_012467 TPSG1 EXON Missense_G36S exm1200847 16 1273586 [A/G] NM_012467 TPSG1 EXON Missense_R28W exm1200848 16 1273591 [T/C] NM_012467 TPSG1 EXON Missense_C26Y exm1200851 16 1274604 [A/G] NM_012467 TPSG1 EXON Missense_P24L exm1200857 16 1275208 [A/G] NM_012467 TPSG1 EXON Synonymous_P15P exm1201078 16 1306944 [T/C] NM_012217 TPSD1 EXON Missense_L134P exm1201079 16 1306955 [A/G] NM_012217 TPSD1 EXON Missense_V138M exm1201098 16 1307060 [A/G] NM_012217 TPSD1 EXON Missense_N173D exm1201102 16 1308129 [T/C] NM_012217 TPSD1 EXON Missense_A197V exm1201106 16 1308156 [A/G] NM_012217 TPSD1 EXON Missense_G206D exm1201109 16 1308179 [A/G] NM_012217 TPSD1 EXON Missense_D214N exm1201116 16 1308212 [G/C] NM_012217 TPSD1 EXON Missense_D225H exm1201118 16 1308333 [A/G] NM_012217 TPSD1 EXON Missense_G229S exm1201183 16 1384711 [T/C] NM_001199097,NM_001199099,NM_001199098,NM_003933 BAIAP3,BAIAP3,BAIAP3,BAIAP3 EXON Silent,Silent,Silent,Missense_H17Y exm1201184 16 1384715 [T/C] NM_001199097,NM_001199099,NM_001199098,NM_003933 BAIAP3,BAIAP3,BAIAP3,BAIAP3 EXON Silent,Silent,Silent,Missense_L18P exm1201201 16 1388618 [A/G] NM_001199097,NM_001199099,NM_001199098,NM_003933,NM_001199096 BAIAP3,BAIAP3,BAIAP3,BAIAP3,BAIAP3 EXON Missense_R23H,Missense_R23H,Missense_R23H,Missense_R58H,Missense_R23H exm1201203 16 1388642 [A/G] NM_001199097,NM_001199099,NM_001199098,NM_003933,NM_001199096 BAIAP3,BAIAP3,BAIAP3,BAIAP3,BAIAP3 EXON Missense_S31N,Missense_S31N,Missense_S31N,Missense_S66N,Missense_S31N exm1201204 16 1388650 [A/G] NM_001199097,NM_001199099,NM_001199098,NM_003933,NM_001199096 BAIAP3,BAIAP3,BAIAP3,BAIAP3,BAIAP3 EXON Missense_A34T,Missense_A34T,Missense_A34T,Missense_A69T,Missense_A34T exm1201213 16 1388919 [A/G] NM_001199097,NM_001199099,NM_001199098,NM_003933,NM_001199096 BAIAP3,BAIAP3,BAIAP3,BAIAP3,BAIAP3 EXON Missense_V50M,Missense_V50M,Missense_V50M,Missense_V85M,Missense_V50M exm1846643 16 1389572 [A/G] NM_001199097,NM_001199099,NM_001199098,NM_003933,NM_001199096 BAIAP3,BAIAP3,BAIAP3,BAIAP3,BAIAP3 EXON Missense_D126N,Silent,Missense_D103N,Missense_D161N,Missense_D126N exm1201244 16 1391137 [T/C] NM_001199097,NM_001199099,NM_001199098,NM_003933,NM_001199096 BAIAP3,BAIAP3,BAIAP3,BAIAP3,BAIAP3 EXON Missense_T159M,Missense_T131M,Missense_T136M,Missense_T194M,Missense_T159M exm1201245 16 1391150 [A/C] NM_001199097,NM_001199099,NM_001199098,NM_003933,NM_001199096 BAIAP3,BAIAP3,BAIAP3,BAIAP3,BAIAP3 EXON Missense_K163N,Missense_K135N,Missense_K140N,Missense_K198N,Missense_K163N exm1201247 16 1391185 [A/G] NM_001199097,NM_001199099,NM_001199098,NM_003933,NM_001199096 BAIAP3,BAIAP3,BAIAP3,BAIAP3,BAIAP3 EXON Missense_K175R,Missense_K147R,Missense_K152R,Missense_K210R,Missense_K175R exm1201248 16 1391195 [T/C] NM_001199097,NM_001199099,NM_001199098,NM_003933,NM_001199096 BAIAP3,BAIAP3,BAIAP3,BAIAP3,BAIAP3 EXON Synonymous_N178N,Synonymous_N150N,Synonymous_N155N,Synonymous_N213N,Synonymous_N178N exm1201257 16 1391388 [A/G] NM_001199097,NM_001199099,NM_001199098,NM_003933,NM_001199096 BAIAP3,BAIAP3,BAIAP3,BAIAP3,BAIAP3 EXON Missense_R210H,Missense_R182H,Missense_R187H,Missense_R245H,Missense_R210H exm1201259 16 1391405 [A/G] NM_001199097,NM_001199099,NM_001199098,NM_003933,NM_001199096 BAIAP3,BAIAP3,BAIAP3,BAIAP3,BAIAP3 EXON Missense_G216S,Missense_G188S,Missense_G193S,Missense_G251S,Missense_G216S exm2252441 16 1391419 [T/C] NM_001199097,NM_001199099,NM_001199098,NM_003933,NM_001199096 BAIAP3,BAIAP3,BAIAP3,BAIAP3,BAIAP3 EXON Synonymous_P220P,Synonymous_P192P,Synonymous_P197P,Synonymous_P255P,Synonymous_P220P exm1201292 16 1392744 [A/G] NM_001199097,NM_001199099,NM_001199098,NM_003933,NM_001199096 BAIAP3,BAIAP3,BAIAP3,BAIAP3,BAIAP3 EXON Missense_G364R,Missense_G336R,Missense_G341R,Missense_G399R,Missense_G328R exm1201293 16 1392745 [G/C] NM_001199097,NM_001199099,NM_001199098,NM_003933,NM_001199096 BAIAP3,BAIAP3,BAIAP3,BAIAP3,BAIAP3 EXON Missense_G364A,Missense_G336A,Missense_G341A,Missense_G399A,Missense_G328A exm1201295 16 1392792 [T/C] NM_001199097,NM_001199099,NM_001199098,NM_003933,NM_001199096 BAIAP3,BAIAP3,BAIAP3,BAIAP3,BAIAP3 EXON Missense_R380W,Missense_R352W,Missense_R357W,Missense_R415W,Missense_R344W exm1201302 16 1392999 [A/C] NM_001199097,NM_001199099,NM_001199098,NM_003933,NM_001199096 BAIAP3,BAIAP3,BAIAP3,BAIAP3,BAIAP3 EXON Missense_P416H,Missense_P388H,Missense_P393H,Missense_P451H,Missense_P380H exm1201313 16 1393405 [T/G] NM_001199097,NM_001199099,NM_001199098,NM_003933,NM_001199096 BAIAP3,BAIAP3,BAIAP3,BAIAP3,BAIAP3 EXON Missense_V426G,Missense_V398G,Missense_V403G,Missense_V461G,Missense_V390G exm1201324 16 1394129 [A/G] NM_001199097,NM_001199099,NM_001199098,NM_003933,NM_001199096 BAIAP3,BAIAP3,BAIAP3,BAIAP3,BAIAP3 EXON Missense_R498H,Missense_R470H,Missense_R475H,Missense_R533H,Missense_R462H exm1201325 16 1394132 [T/C] NM_001199097,NM_001199099,NM_001199098,NM_003933,NM_001199096 BAIAP3,BAIAP3,BAIAP3,BAIAP3,BAIAP3 EXON Missense_L499P,Missense_L471P,Missense_L476P,Missense_L534P,Missense_L463P exm1201333 16 1394491 [A/G] NM_001199097,NM_001199099,NM_001199098,NM_003933,NM_001199096 BAIAP3,BAIAP3,BAIAP3,BAIAP3,BAIAP3 EXON Missense_D542N,Missense_D514N,Missense_D519N,Missense_D577N,Missense_D506N exm1201334 16 1394507 [A/C] NM_001199097,NM_001199099,NM_001199098,NM_003933,NM_001199096 BAIAP3,BAIAP3,BAIAP3,BAIAP3,BAIAP3 EXON Missense_D547A,Missense_D519A,Missense_D524A,Missense_D582A,Missense_D511A exm1201345 16 1394647 [A/G] NM_001199097,NM_001199099,NM_001199098,NM_003933,NM_001199096 BAIAP3,BAIAP3,BAIAP3,BAIAP3,BAIAP3 EXON Missense_V569I,Missense_V541I,Missense_V546I,Missense_V604I,Missense_V533I exm1201352 16 1394807 [A/G] NM_001199097,NM_001199099,NM_001199098,NM_003933,NM_001199096 BAIAP3,BAIAP3,BAIAP3,BAIAP3,BAIAP3 EXON Missense_N589S,Missense_N561S,Missense_N566S,Missense_N624S,Missense_N553S exm1201354 16 1394822 [T/C] NM_001199097,NM_001199099,NM_001199098,NM_003933,NM_001199096 BAIAP3,BAIAP3,BAIAP3,BAIAP3,BAIAP3 EXON Missense_T594I,Missense_T566I,Missense_T571I,Missense_T629I,Missense_T558I exm1846701 16 1394970 [A/G] NM_001199097,NM_001199099,NM_001199098,NM_003933,NM_001199096 BAIAP3,BAIAP3,BAIAP3,BAIAP3,BAIAP3 EXON Missense_V604M,Missense_V576M,Missense_V581M,Missense_V639M,Missense_V568M exm1201371 16 1395257 [T/C] NM_001199097,NM_001199099,NM_001199098,NM_003933,NM_001199096 BAIAP3,BAIAP3,BAIAP3,BAIAP3,BAIAP3 EXON Missense_R650C,Missense_R622C,Missense_R627C,Missense_R685C,Missense_R614C exm1201372 16 1395284 [A/G] NM_001199097,NM_001199099,NM_001199098,NM_003933,NM_001199096 BAIAP3,BAIAP3,BAIAP3,BAIAP3,BAIAP3 EXON Missense_A659T,Missense_A631T,Missense_A636T,Missense_A694T,Missense_A623T exm1201398 16 1396071 [A/G] NM_001199097,NM_001199099,NM_001199098,NM_003933,NM_001199096 BAIAP3,BAIAP3,BAIAP3,BAIAP3,BAIAP3 EXON Missense_S765G,Missense_S737G,Missense_S742G,Missense_S800G,Missense_S729G exm1201401 16 1396079 [A/G] NM_001199097,NM_001199099,NM_001199098,NM_003933,NM_001199096 BAIAP3,BAIAP3,BAIAP3,BAIAP3,BAIAP3 EXON Synonymous_A767A,Synonymous_A739A,Synonymous_A744A,Synonymous_A802A,Synonymous_A731A exm1846718 16 1396280 [A/G] NM_001199097,NM_001199099,NM_001199098,NM_003933,NM_001199096 BAIAP3,BAIAP3,BAIAP3,BAIAP3,BAIAP3 EXON Missense_R804H,Missense_R776H,Missense_R781H,Missense_R839H,Missense_R768H exm1846719 16 1396285 [G/C] NM_001199097,NM_001199099,NM_001199098,NM_003933,NM_001199096 BAIAP3,BAIAP3,BAIAP3,BAIAP3,BAIAP3 EXON Missense_L806V,Missense_L778V,Missense_L783V,Missense_L841V,Missense_L770V exm1201427 16 1396609 [A/G] NM_001199097,NM_001199099,NM_001199098,NM_003933,NM_001199096 BAIAP3,BAIAP3,BAIAP3,BAIAP3,BAIAP3 EXON Missense_V856M,Missense_V828M,Missense_V833M,Missense_V891M,Missense_V820M exm1201434 16 1396891 [T/C] NM_001199097,NM_001199099,NM_001199098,NM_003933,NM_001199096 BAIAP3,BAIAP3,BAIAP3,BAIAP3,BAIAP3 EXON Nonsense_Q896X,Nonsense_Q868X,Nonsense_Q873X,Nonsense_Q931X,Nonsense_Q860X exm1201435 16 1396909 [T/C] NM_001199097,NM_001199099,NM_001199098,NM_003933,NM_001199096 BAIAP3,BAIAP3,BAIAP3,BAIAP3,BAIAP3 EXON Missense_R902C,Missense_R874C,Missense_R879C,Missense_R937C,Missense_R866C exm1201438 16 1396936 [T/C] NM_001199097,NM_001199099,NM_001199098,NM_003933,NM_001199096 BAIAP3,BAIAP3,BAIAP3,BAIAP3,BAIAP3 EXON Missense_R911C,Missense_R883C,Missense_R888C,Missense_R946C,Missense_R875C exm1201439 16 1396937 [A/G] NM_001199097,NM_001199099,NM_001199098,NM_003933,NM_001199096 BAIAP3,BAIAP3,BAIAP3,BAIAP3,BAIAP3 EXON Missense_R911H,Missense_R883H,Missense_R888H,Missense_R946H,Missense_R875H exm1201443 16 1397345 [A/G] NM_001199097,NM_001199099,NM_001199098,NM_003933,NM_001199096 BAIAP3,BAIAP3,BAIAP3,BAIAP3,BAIAP3 EXON Missense_E933G,Missense_E905G,Missense_E910G,Missense_E968G,Missense_E897G exm1201447 16 1397565 [A/G] NM_001199097,NM_001199099,NM_001199098,NM_003933,NM_001199096 BAIAP3,BAIAP3,BAIAP3,BAIAP3,BAIAP3 EXON Missense_R948Q,Missense_R920Q,Missense_R925Q,Missense_R983Q,Missense_R912Q exm1201449 16 1397597 [A/G] NM_001199097,NM_001199099,NM_001199098,NM_003933,NM_001199096 BAIAP3,BAIAP3,BAIAP3,BAIAP3,BAIAP3 EXON Missense_E959K,Missense_E931K,Missense_E936K,Missense_E994K,Missense_E923K exm1201453 16 1397721 [A/G] NM_001199097,NM_001199099,NM_001199098,NM_003933,NM_001199096 BAIAP3,BAIAP3,BAIAP3,BAIAP3,BAIAP3 EXON Missense_R975Q,Missense_R947Q,Missense_R952Q,Missense_R1010Q,Missense_R939Q exm1201496 16 1398410 [A/G] NM_001199097,NM_001199099,NM_001199098,NM_003933,NM_001199096 BAIAP3,BAIAP3,BAIAP3,BAIAP3,BAIAP3 EXON Missense_R1129H,Missense_R1101H,Missense_R1106H,Missense_R1164H,Missense_R1093H exm1201517 16 1399551 [A/G] NM_001001410 TSR3 EXON Missense_R276C exm1201521 16 1399586 [A/C] NM_001001410 TSR3 EXON Missense_S264I exm1201537 16 1400112 [A/G] NM_001001410 TSR3 EXON Missense_A217V exm1201544 16 1400233 [A/G] NM_001001410 TSR3 EXON Missense_F177L exm2252442 16 1400812 [A/G] NM_001001410 TSR3 EXON Synonymous_I174I exm1201547 16 1400822 [A/G] NM_001001410 TSR3 EXON Missense_T171I exm1201549 16 1400868 [A/G] NM_001001410 TSR3 EXON Missense_Y156H exm1201556 16 1400999 [T/C] NM_001001410 TSR3 EXON Missense_Q112R exm1201567 16 1402143 [C/G] NM_032520 GNPTG EXON Missense_E31D exm1846804 16 1402290 [T/A] NM_032520 GNPTG EXON Missense_D54V exm1201579 16 1411798 [T/C] NM_032520 GNPTG EXON Missense_T78M exm1201609 16 1412245 [T/G] NM_032520 GNPTG EXON Missense_H150Q exm1201610 16 1412267 [A/G] NM_032520 GNPTG EXON Missense_V158I exm1201615 16 1412297 [A/G] NM_032520 GNPTG EXON Missense_V168I exm-IND16-1352535 16 1412535 [D/I] NM_032520 GNPTG EXON exm1201625 16 1412667 [G/C] NM_032520 GNPTG EXON Missense_P222R exm2274794 16 1412715 [A/G] NM_032520 GNPTG EXON Missense_G238E exm1201634 16 1412898 [A/G] NM_032520 GNPTG EXON Missense_R272G exm1201636 16 1413031 [T/C] NM_032520 GNPTG EXON Missense_T286M exm1201641 16 1413084 [A/G] NM_032520 GNPTG EXON Missense_S304G exm1201649 16 1416362 [A/G] NM_023076,NM_001276414,NM_001193388,NM_001193389 UNKL,UNKL,UNKL,UNKL EXON Missense_A193V,Missense_A190V,Missense_A644V,Missense_A143V exm1201654 16 1416381 [A/G] NM_023076,NM_001276414,NM_001193388,NM_001193389 UNKL,UNKL,UNKL,UNKL EXON Missense_R187C,Missense_R184C,Missense_R638C,Missense_R137C exm1201666 16 1417301 [T/C] NM_023076,NM_001276414,NM_001193388,NM_001193389 UNKL,UNKL,UNKL,UNKL EXON Missense_R112H,Missense_R109H,Missense_R613H,Missense_R112H exm1201669 16 1417344 [T/C] NM_023076,NM_001276414,NM_001193388,NM_001193389 UNKL,UNKL,UNKL,UNKL EXON Missense_D98N,Missense_D95N,Missense_D599N,Missense_D98N exm1201673 16 1417710 [C/G] NM_023076,NM_001276414,NM_001193388,NM_001193389 UNKL,UNKL,UNKL,UNKL EXON Missense_E78Q,Missense_E75Q,Missense_E579Q,Missense_E78Q exm1201685 16 1417791 [T/C] NM_023076,NM_001276414,NM_001193388,NM_001193389 UNKL,UNKL,UNKL,UNKL EXON Missense_I51V,Missense_I48V,Missense_I552V,Missense_I51V exm1201701 16 1421606 [A/G] NM_023076,NM_001276414,NM_001193388,NM_001193389 UNKL,UNKL,UNKL,UNKL EXON Silent,Silent,Missense_A424V,Silent exm1201712 16 1448884 [T/C] NM_001193388,NM_001037125 UNKL,UNKL EXON Silent,Missense_A265T exm1201714 16 1448920 [T/G] NM_001193388,NM_001037125 UNKL,UNKL EXON Silent,Missense_L253I exm1201722 16 1449390 [T/C] NM_001193388,NM_001037125 UNKL,UNKL EXON Missense_R240Q,Missense_R240Q exm1846958 16 1449417 [T/C] NM_001193388,NM_001037125 UNKL,UNKL EXON Missense_N231S,Missense_N231S exm1201768 16 1470068 [A/G] NM_001272051 C16orf91 EXON Silent exm1201774 16 1470206 [A/G] NM_001272051 C16orf91 EXON Silent exm1201779 16 1470338 [T/C] NM_001272051 C16orf91 EXON Missense_Q103R exm1201781 16 1470352 [G/C] NM_001272051 C16orf91 EXON Missense_E98D exm1201785 16 1470378 [A/T] NM_001272051 C16orf91 EXON Missense_I90F exm1201792 16 1470497 [A/G] NM_001272051 C16orf91 EXON Missense_I50T exm1201797 16 1470583 [G/C] NM_001272051 C16orf91 EXON Missense_W21C exm1201800 16 1476244 [A/G] exm1201802 16 1476273 [A/G] exm1201803 16 1476289 [T/C] exm1201806 16 1476330 [T/C] exm1201811 16 1478413 [T/C] exm1201812 16 1478414 [T/C] exm1201820 16 1478503 [A/G] exm1201823 16 1479203 [A/G] exm1201825 16 1479213 [T/C] exm1201830 16 1479308 [A/G] exm1201831 16 1479312 [T/C] exm1201837 16 1484455 [T/C] NM_001143980 CCDC154 EXON Missense_Q653R exm1201838 16 1484473 [A/G] NM_001143980 CCDC154 EXON Missense_L647P exm1201842 16 1484528 [A/G] NM_001143980 CCDC154 EXON Missense_R629C exm1201843 16 1484536 [T/C] NM_001143980 CCDC154 Silent exm1201856 16 1486462 [T/C] NM_001143980 CCDC154 EXON Missense_A491T exm1201857 16 1486505 [A/G] NM_001143980 CCDC154 EXON Synonymous_D476D exm2252448 16 1486505 [A/G] NM_001143980 CCDC154 EXON Synonymous_D476D exm1201863 16 1488052 [A/C] NM_001143980 CCDC154 EXON Missense_L384R exm1201864 16 1488079 [T/C] NM_001143980 CCDC154 EXON Missense_R375Q exm1201879 16 1492438 [T/C] NM_001143980 CCDC154 EXON Missense_R215Q exm2224212 16 1492469 [T/C] NM_001143980 CCDC154 EXON Missense_A205T exm1201898 16 1493837 [T/C] NM_001143980 CCDC154 EXON Missense_E62K exm1201901 16 1493857 [A/G] NM_001143980 CCDC154 EXON Missense_T55I exm1201904 16 1493909 [T/C] NM_001143980 CCDC154 EXON Missense_E38K exm1201906 16 1493983 [A/G] NM_001143980 CCDC154 EXON Missense_S13L exm1201929 16 1497403 [A/G] NM_001287,NM_001114331 CLCN7,CLCN7 EXON Missense_T747M,Missense_T723M exm1201944 16 1498367 [T/C] NM_001287,NM_001114331 CLCN7,CLCN7 EXON Missense_D668N,Missense_D644N exm1201948 16 1498408 [A/G] NM_001287,NM_001114331 CLCN7,CLCN7 EXON Missense_T654M,Missense_T630M exm1201978 16 1499093 [A/G] NM_001287,NM_001114331 CLCN7,CLCN7 EXON Synonymous_G557G,Synonymous_G533G exm2224220 16 1502773 [T/C] NM_001287,NM_001114331 CLCN7,CLCN7 EXON Missense_M446V,Missense_M422V exm1202004 16 1502857 [T/C] NM_001287,NM_001114331 CLCN7,CLCN7 EXON Missense_V418M,Missense_V394M exm1202048 16 1510460 [T/C] NM_001287,NM_001114331 CLCN7,CLCN7 EXON Missense_A185T,Missense_A161T exm1202071 16 1515269 [A/G] NM_001287,NM_001114331 CLCN7,CLCN7 EXON Missense_P71L,Silent exm1202078 16 1535950 [T/C] NM_001013658 PTX4 EXON Missense_R471H exm1202081 16 1535974 [T/C] NM_001013658 PTX4 EXON Missense_G463E exm1202083 16 1536004 [T/C] NM_001013658 PTX4 EXON Missense_N453S exm1202090 16 1536047 [T/C] NM_001013658 PTX4 EXON Missense_I439V exm2276411 16 1536068 [C/G] NM_001013658 PTX4 EXON Missense_G432R exm1202104 16 1536149 [T/C] NM_001013658 PTX4 EXON Missense_V405M exm1202117 16 1536304 [T/C] NM_001013658 PTX4 EXON Missense_G353D exm1202118 16 1536305 [T/C] NM_001013658 PTX4 EXON Missense_G353S exm1202124 16 1536380 [T/G] NM_001013658 PTX4 EXON Missense_L328M exm1202125 16 1536388 [A/C] NM_001013658 PTX4 EXON Missense_R325L exm1202127 16 1536412 [T/C] NM_001013658 PTX4 EXON Missense_D317G exm1202129 16 1536430 [T/C] NM_001013658 PTX4 EXON Missense_Y311C exm1202131 16 1536452 [A/G] NM_001013658 PTX4 EXON Missense_R304C exm1202132 16 1536455 [T/C] NM_001013658 PTX4 EXON Missense_G303S exm1202134 16 1536466 [T/C] NM_001013658 PTX4 EXON Missense_R299H exm1202137 16 1536499 [T/G] NM_001013658 PTX4 EXON Missense_A288D exm1202138 16 1536506 [T/C] NM_001013658 PTX4 EXON Missense_V286I exm1202140 16 1536535 [T/C] NM_001013658 PTX4 EXON Missense_R276K exm1202144 16 1536575 [T/C] NM_001013658 PTX4 EXON Missense_G263S exm1202148 16 1537391 [T/C] NM_001013658 PTX4 EXON Missense_S236N exm1202153 16 1537458 [T/G] NM_001013658 PTX4 EXON Missense_H214N exm1202168 16 1537647 [A/G] NM_001013658 PTX4 EXON Missense_R151C exm1202171 16 1537693 [A/C] NM_001013658 PTX4 EXON Missense_R135S exm1202173 16 1537701 [A/G] NM_001013658 PTX4 EXON Missense_R133W exm1202178 16 1537751 [T/C] NM_001013658 PTX4 EXON Missense_R116Q exm1202186 16 1537808 [A/G] NM_001013658 PTX4 EXON Missense_A97V exm1202187 16 1537818 [A/C] NM_001013658 PTX4 EXON Missense_G94W exm1202189 16 1537826 [A/G] NM_001013658 PTX4 EXON Missense_S91L exm1202190 16 1537839 [A/G] NM_001013658 PTX4 EXON Missense_R87W exm1202191 16 1537872 [C/G] NM_001013658 PTX4 EXON Missense_E76Q exm1202192 16 1537874 [A/G] NM_001013658 PTX4 EXON Missense_A75V exm1202193 16 1537884 [A/G] NM_001013658 PTX4 EXON Missense_R72W exm1202195 16 1537926 [T/C] NM_001013658 PTX4 EXON Missense_A58T exm1202196 16 1537940 [T/G] NM_001013658 PTX4 EXON Missense_H53P exm1202197 16 1537956 [C/G] NM_001013658 PTX4 EXON Missense_E48Q exm1202199 16 1538363 [A/C] NM_001013658 PTX4 EXON Missense_G36C exm1202201 16 1538379 [A/C] NM_001013658 PTX4 EXON Missense_Q30H exm1202206 16 1538425 [A/C] NM_001013658 PTX4 EXON Missense_S15I exm1202210 16 1538464 [T/C] NM_001013658 PTX4 EXON Missense_G2E exm2267863 16 1543167 [A/G] exm1202218 16 1544302 [A/G] NM_016111 TELO2 EXON Missense_E7G exm1202219 16 1544313 [A/G] NM_016111 TELO2 EXON Missense_A11T exm1202220 16 1544314 [A/C] NM_016111 TELO2 EXON Missense_A11D exm1202223 16 1544356 [A/G] NM_016111 TELO2 EXON Missense_G25D exm1202230 16 1544520 [A/C] NM_016111 TELO2 EXON Missense_H80N exm1202240 16 1545403 [A/G] NM_016111 TELO2 EXON Missense_G131D exm1202244 16 1545519 [T/C] NM_016111 TELO2 EXON Missense_R170C exm1202252 16 1545589 [T/C] NM_016111 TELO2 EXON Missense_V193A exm1202253 16 1545591 [T/C] NM_016111 TELO2 EXON Missense_R194W exm1202257 16 1547045 [T/G] NM_016111 TELO2 EXON Missense_D208Y exm2275306 16 1547104 [C/G] NM_016111 TELO2 EXON Missense_Q227H exm1202274 16 1549233 [G/C] NM_016111 TELO2 EXON Missense_P278A exm1202282 16 1550113 [A/G] NM_016111 TELO2 EXON Missense_S317N exm1202293 16 1550409 [T/C] NM_016111 TELO2 EXON Missense_P355L exm1202298 16 1550474 [T/C] NM_016111 TELO2 EXON Missense_R377W exm1202306 16 1550623 [A/G] NM_016111 TELO2 EXON Missense_V402M exm2267923 16 1551082 [A/G] NM_016111 TELO2 Silent exm1202313 16 1551442 [T/C] NM_016111 TELO2 EXON Missense_L435F exm1202322 16 1551684 [A/C] NM_016111 TELO2 EXON Missense_T461K exm1202329 16 1552064 [T/C] NM_016111 TELO2 EXON Missense_P497S exm1202338 16 1552107 [T/C] NM_016111 TELO2 EXON Missense_A511V exm1202339 16 1552118 [T/G] NM_016111 TELO2 EXON Missense_V515F exm1202361 16 1552980 [T/C] NM_016111 TELO2 EXON Missense_R607W exm1202375 16 1555537 [A/G] NM_016111 TELO2 EXON Missense_V657M exm1202376 16 1555541 [T/C] NM_016111 TELO2 EXON Missense_A658V exm1202379 16 1555571 [A/G] NM_016111 TELO2 EXON Missense_R668Q exm1202381 16 1555591 [T/C] NM_016111 TELO2 EXON Missense_R675W exm1202382 16 1555601 [A/G] NM_016111 TELO2 EXON Missense_K678R exm2252451 16 1557357 [T/C] NM_016111 TELO2 EXON Synonymous_R759R exm1202414 16 1557663 [T/C] NM_016111 TELO2 EXON Missense_R785C exm1202417 16 1557702 [T/C] NM_016111 TELO2 EXON Missense_R798W exm1202429 16 1560953 [T/C] NM_014714 IFT140 EXON Missense_D1461N exm1202432 16 1560980 [T/C] NM_014714 IFT140 EXON Missense_E1452K exm1847555 16 1561025 [T/C] NM_014714 IFT140 EXON Missense_E1437K exm1202443 16 1561070 [T/C] NM_014714 IFT140 EXON Missense_A1422T exm1202450 16 1561126 [T/C] NM_014714 IFT140 EXON Missense_R1403Q exm1202453 16 1568263 [T/C] NM_014714 IFT140 EXON Missense_Y1379C exm1202461 16 1569929 [G/C] NM_014714 IFT140 EXON Missense_Q1331H exm1202464 16 1569934 [T/C] NM_014714 IFT140 EXON Missense_A1330T exm1202471 16 1570047 [A/G] NM_014714 IFT140 EXON Missense_V1292A exm1202483 16 1570287 [T/C] NM_014714 IFT140 EXON Missense_V1240M exm1202499 16 1570721 [A/G] NM_014714 IFT140 EXON Missense_S1181L exm1202511 16 1573589 [T/C] NM_014714 IFT140 EXON Missense_R1128H exm1202526 16 1573926 [A/G] NM_014714 IFT140 EXON Missense_L1058S exm1202536 16 1574615 [T/C] NM_014714 IFT140 EXON Missense_G1027R exm1202547 16 1574838 [A/G] NM_014714 IFT140 EXON Missense_R982W exm1202548 16 1574847 [T/C] NM_014714 IFT140 EXON Missense_E979K exm1202560 16 1574906 [T/C] NM_014714 IFT140 EXON Missense_R959Q exm1202578 16 1576005 [T/C] NM_014714 IFT140 EXON Missense_R884Q exm1202583 16 1576039 [C/G] NM_014714 IFT140 EXON Missense_D873H exm1202611 16 1584377 [T/C] NM_014714,NM_001256541,NM_024600 IFT140,TMEM204,TMEM204 EXON Silent,Missense_T34M,Missense_T34M exm1202626 16 1584556 [T/C] NM_014714,NM_001256541,NM_024600 IFT140,TMEM204,TMEM204 EXON Silent,Synonymous_L94L,Synonymous_L94L exm2252454 16 1591941 [T/C] NM_014714,NM_001256541,NM_024600 IFT140,TMEM204,TMEM204 EXON Silent,Synonymous_R100R,Synonymous_R100R exm1847896 16 1592029 [A/G] NM_014714,NM_001256541,NM_024600 IFT140,TMEM204,TMEM204 EXON Silent,Missense_D130N,Missense_D130N exm1202635 16 1592036 [T/C] NM_014714,NM_001256541,NM_024600 IFT140,TMEM204,TMEM204 EXON Silent,Missense_P132L,Missense_P132L exm1202643 16 1604978 [C/G] NM_014714,NM_001256541,NM_024600 IFT140,TMEM204,TMEM204 EXON Silent,Missense_A211G,Missense_A211G exm1202653 16 1607975 [T/C] NM_014714 IFT140 EXON Missense_D787G exm1202655 16 1608005 [A/C] NM_014714 IFT140 EXON Missense_L777R exm1202670 16 1612075 [T/C] NM_014714 IFT140 EXON Missense_G704S exm1202676 16 1614008 [C/G] NM_014714 IFT140 EXON Missense_A686G exm1202685 16 1614147 [T/C] NM_014714 IFT140 EXON Missense_D640N exm1202693 16 1616201 [T/C] NM_014714 IFT140 EXON Missense_R621Q exm1202695 16 1616232 [T/C] NM_014714 IFT140 EXON Missense_V611I exm1202697 16 1616256 [T/C] NM_014714 IFT140 EXON Missense_D603N exm1202702 16 1618306 [T/C] NM_014714 IFT140 EXON Missense_S561N exm1202703 16 1618321 [T/C] NM_014714 IFT140 EXON Missense_H556R exm1202709 16 1621486 [G/C] NM_014714 IFT140 EXON Missense_C525S exm1202711 16 1621519 [T/A] NM_014714 IFT140 EXON Missense_L514H exm1202717 16 1633330 [T/C] NM_014714 IFT140 EXON Missense_A473T exm1202721 16 1633383 [A/G] NM_014714 IFT140 EXON Missense_A455V exm1202722 16 1634225 [A/G] NM_014714 IFT140 EXON Missense_A451V exm1202723 16 1634241 [T/C] NM_014714 IFT140 EXON Missense_I446V exm1202724 16 1634246 [A/G] NM_014714 IFT140 EXON Missense_M444T exm1202731 16 1634385 [T/C] NM_014714 IFT140 EXON Missense_V398I exm1202744 16 1637283 [T/C] NM_014714 IFT140 EXON Missense_E309K exm1202748 16 1637969 [C/G] NM_014714 IFT140 EXON Missense_S289R exm1202750 16 1637997 [T/C] NM_014714 IFT140 EXON Missense_R280Q exm1202759 16 1639658 [T/C] NM_014714 IFT140 EXON Missense_R253Q exm1202764 16 1642177 [T/C] NM_014714 IFT140 EXON Missense_G212R exm1202780 16 1642549 [T/C] NM_014714 IFT140 EXON Missense_R137Q exm1202785 16 1652418 [T/C] NM_014714 IFT140 EXON Missense_V108M exm1202814 16 1675986 [T/G] NM_020825 CRAMP1L EXON Missense_G120V exm1202833 16 1703067 [C/G] NM_020825 CRAMP1L EXON Missense_R316P exm1202839 16 1705879 [A/G] NM_020825 CRAMP1L EXON Missense_R374Q exm1202840 16 1705897 [A/G] NM_020825 CRAMP1L EXON Missense_R380Q exm1202861 16 1706275 [T/C] NM_020825 CRAMP1L EXON Missense_P506L exm1202865 16 1706383 [T/C] NM_020825 CRAMP1L EXON Missense_P542L exm1202896 16 1709935 [A/G] NM_020825 CRAMP1L EXON Missense_E762K exm1202897 16 1709945 [T/C] NM_020825 CRAMP1L EXON Missense_S765L exm2224273 16 1710001 [T/C] NM_020825 CRAMP1L EXON Missense_R784W exm1202908 16 1710037 [A/C] NM_020825 CRAMP1L EXON Missense_P796T exm1202919 16 1712672 [T/C] NM_020825 CRAMP1L EXON Synonymous_S865S exm1202956 16 1718068 [C/G] NM_020825 CRAMP1L EXON Missense_P1070A exm1202960 16 1718110 [T/C] NM_020825 CRAMP1L EXON Missense_P1084S exm2224274 16 1718134 [A/G] NM_020825 CRAMP1L EXON Missense_E1092K exm1202965 16 1719041 [T/G] NM_020825 CRAMP1L EXON Missense_S1125I exm1202974 16 1720713 [T/C] NM_020825 CRAMP1L EXON Missense_I1183T exm1848318 16 1724023 [A/G] NM_020825 CRAMP1L EXON Missense_A1263T exm1202998 16 1748853 [A/G] NM_144570 HN1L EXON Missense_G143S exm1203028 16 1793383 [C/G] NM_015133,NM_001040439 MAPK8IP3,MAPK8IP3 EXON Missense_T217R,Missense_T217R exm1203037 16 1797183 [A/G] NM_015133,NM_001040439 MAPK8IP3,MAPK8IP3 EXON Missense_V300M,Missense_V300M exm1203043 16 1797261 [T/C] NM_015133,NM_001040439 MAPK8IP3,MAPK8IP3 EXON Missense_R326C,Missense_R326C exm1203047 16 1798325 [T/C] NM_015133,NM_001040439 MAPK8IP3,MAPK8IP3 EXON Missense_R358C,Missense_R358C exm1203080 16 1812884 [A/G] NM_015133,NM_001040439 MAPK8IP3,MAPK8IP3 EXON Missense_R591H,Missense_R585H exm1203095 16 1813658 [T/C] NM_015133,NM_001040439 MAPK8IP3,MAPK8IP3 EXON Synonymous_D632D,Synonymous_D626D exm1203110 16 1814432 [C/G] NM_015133,NM_001040439 MAPK8IP3,MAPK8IP3 EXON Missense_S750T,Missense_S744T exm1203111 16 1814440 [A/G] NM_015133,NM_001040439 MAPK8IP3,MAPK8IP3 EXON Missense_T753A,Missense_T747A exm1203132 16 1816338 [A/G] NM_015133,NM_001040439 MAPK8IP3,MAPK8IP3 EXON Missense_R915Q,Missense_R909Q exm1203134 16 1816343 [A/G] NM_015133,NM_001040439 MAPK8IP3,MAPK8IP3 EXON Missense_G917R,Missense_G911R exm1203140 16 1816536 [A/C] NM_015133,NM_001040439 MAPK8IP3,MAPK8IP3 EXON Missense_N941K,Missense_N935K exm1203142 16 1816585 [A/G] NM_015133,NM_001040439 MAPK8IP3,MAPK8IP3 EXON Missense_G958R,Missense_G952R exm1203151 16 1816905 [A/G] NM_015133,NM_001040439 MAPK8IP3,MAPK8IP3 EXON Synonymous_V1006V,Synonymous_V1000V exm1203159 16 1817207 [C/G] NM_015133,NM_001040439 MAPK8IP3,MAPK8IP3 EXON Missense_S1048C,Missense_S1042C exm1203160 16 1817236 [T/C] NM_015133,NM_001040439 MAPK8IP3,MAPK8IP3 EXON Missense_R1058C,Missense_R1052C exm1203198 16 1818236 [A/G] NM_015133,NM_001040439 MAPK8IP3,MAPK8IP3 EXON Missense_R1199H,Missense_R1193H exm1203200 16 1818284 [T/C] NM_015133,NM_001040439 MAPK8IP3,MAPK8IP3 EXON Missense_A1215V,Missense_A1209V exm1203222 16 1820672 [A/G] NM_002513 NME3 EXON Missense_A163V exm1848499 16 1820969 [T/C] NM_002513 NME3 EXON Missense_R102H exm1203240 16 1821082 [A/C] NM_002513 NME3 EXON Missense_V90L exm1848501 16 1821166 [T/C] NM_002513 NME3 EXON Missense_E62K exm1203250 16 1821410 [A/G] NM_002513 NME3 EXON Synonymous_A16A exm1203254 16 1822237 [G/C] NM_023936 MRPS34 EXON Missense_K214N exm1203261 16 1822381 [A/G] NM_023936 MRPS34 EXON Synonymous_Y166Y exm1203264 16 1822443 [C/G] NM_023936 MRPS34 EXON Missense_E146Q exm1203275 16 1822642 [G/C] NM_023936 MRPS34 EXON Missense_L109F exm1203284 16 1823024 [T/G] NM_023936 MRPS34 EXON Missense_L33I exm1203288 16 1823054 [C/G] NM_023936 MRPS34 EXON Missense_E23Q exm1848515 16 1823740 [T/G] NM_001257370 EME2 EXON Missense_M94I exm1203310 16 1825067 [T/C] NM_001257370 EME2 EXON Missense_P168L exm1203315 16 1825144 [T/C] NM_001257370 EME2 Silent exm1203318 16 1825175 [A/G] NM_001257370 EME2 Silent exm1203321 16 1825189 [C/G] NM_001257370 EME2 Silent exm1203322 16 1825249 [A/G] NM_001257370 EME2 Silent exm1203326 16 1825290 [A/G] NM_001257370 EME2 Silent exm1203330 16 1825321 [A/G] NM_001257370 EME2 EXON Missense_R192H exm1203331 16 1825335 [T/C] NM_001257370 EME2 EXON Missense_R197W exm1203333 16 1825356 [A/C] NM_001257370 EME2 EXON Missense_S204R exm1203334 16 1825371 [A/G] NM_001257370 EME2 EXON Missense_G209S exm1203335 16 1825372 [A/G] NM_001257370 EME2 EXON Missense_G209D exm1203338 16 1825383 [C/G] NM_001257370 EME2 EXON Missense_A213P exm1203340 16 1825407 [A/G] NM_001257370 EME2 EXON Missense_E221K exm1203354 16 1825814 [G/C] NM_001257370 EME2 EXON Missense_Q266E exm1203360 16 1825923 [A/G] NM_001257370 EME2 EXON Missense_R302Q exm1203365 16 1825971 [T/C] NM_001257370 EME2 EXON Missense_P318L exm1203368 16 1825982 [T/C] NM_001257370 EME2 EXON Nonsense_Q322X exm1203382 16 1826154 [A/G] NM_001257370 EME2 EXON Missense_R352H exm1203395 16 1827133 [A/G] NM_080861 SPSB3 EXON Missense_R345W exm1203399 16 1827141 [T/C] NM_080861 SPSB3 EXON Missense_R342H exm1203405 16 1827180 [G/C] NM_080861 SPSB3 EXON Missense_S329C exm1203408 16 1827258 [A/G] NM_080861 SPSB3 EXON Missense_P303L exm1848561 16 1827843 [A/C] NM_080861 SPSB3 EXON Missense_S209I exm1203434 16 1828030 [A/G] NM_080861 SPSB3 EXON Missense_S171L exm1203463 16 1828555 [A/G] NM_080861 SPSB3 EXON Missense_A62V exm1203468 16 1831409 [A/C] NM_080861 SPSB3 EXON Missense_A26S exm1203491 16 1836839 [A/G] NM_012225 NUBP2 EXON Missense_D73N exm1203492 16 1836842 [T/C] NM_012225 NUBP2 EXON Missense_R74C exm1203496 16 1837678 [T/C] NM_012225 NUBP2 EXON Missense_A112V exm1203506 16 1837788 [T/C] NM_012225 NUBP2 EXON Missense_R149C exm1203507 16 1837789 [A/G] NM_012225 NUBP2 EXON Missense_R149H exm1203517 16 1837967 [A/G] NM_012225 NUBP2 EXON Missense_R172H exm1203520 16 1837991 [T/C] NM_012225 NUBP2 EXON Missense_T180M exm1203551 16 1838696 [T/C] NM_012225 NUBP2 EXON Missense_T266M exm1203566 16 1840711 [T/C] NM_004970,NM_001146006,NR_027389 IGFALS,IGFALS,IGFALS EXON Missense_D570N,Missense_D608N,Silent exm1203567 16 1840741 [A/G] NM_004970,NM_001146006,NR_027389 IGFALS,IGFALS,IGFALS EXON Missense_R560C,Missense_R598C,Silent exm1203570 16 1840777 [A/G] NM_004970,NM_001146006,NR_027389 IGFALS,IGFALS,IGFALS EXON Missense_R548W,Missense_R586W,Silent exm1203573 16 1840903 [T/C] NM_004970,NM_001146006,NR_027389 IGFALS,IGFALS,IGFALS EXON Missense_G506R,Missense_G544R,Silent exm1203574 16 1840927 [A/G] NM_004970,NM_001146006,NR_027389 IGFALS,IGFALS,IGFALS EXON Missense_P498S,Missense_P536S,Silent exm1203575 16 1840941 [T/C] NM_004970,NM_001146006,NR_027389 IGFALS,IGFALS,IGFALS EXON Missense_R493H,Missense_R531H,Silent exm1203582 16 1841062 [C/G] NM_004970,NM_001146006,NR_027389 IGFALS,IGFALS,IGFALS EXON Missense_L453V,Missense_L491V,Silent exm1203583 16 1841064 [T/C] NM_004970,NM_001146006,NR_027389 IGFALS,IGFALS,IGFALS EXON Missense_R452H,Missense_R490H,Silent exm1203586 16 1841149 [G/C] NM_004970,NM_001146006,NR_027389 IGFALS,IGFALS,IGFALS EXON Missense_G424R,Missense_G462R,Silent exm1203587 16 1841152 [T/C] NM_004970,NM_001146006,NR_027389 IGFALS,IGFALS,IGFALS EXON Missense_V423M,Missense_V461M,Silent exm1203594 16 1841271 [T/C] NM_004970,NM_001146006,NR_027389 IGFALS,IGFALS,IGFALS EXON Missense_R383Q,Missense_R421Q,Silent exm1203602 16 1841389 [T/C] NM_004970,NM_001146006,NR_027389 IGFALS,IGFALS,IGFALS EXON Missense_T344A,Missense_T382A,Silent exm1203607 16 1841496 [T/C] NM_004970,NM_001146006,NR_027389 IGFALS,IGFALS,IGFALS EXON Missense_R308H,Missense_R346H,Silent exm2224293 16 1841499 [A/G] NM_004970,NM_001146006,NR_027389 IGFALS,IGFALS,IGFALS EXON Missense_P307L,Missense_P345L,Silent exm1203609 16 1841559 [A/G] NM_004970,NM_001146006,NR_027389 IGFALS,IGFALS,IGFALS EXON Missense_P287L,Missense_P325L,Silent exm1203620 16 1841668 [A/G] NM_004970,NM_001146006,NR_027389 IGFALS,IGFALS,IGFALS EXON Missense_R251C,Missense_R289C,Silent exm1848635 16 1841826 [A/T] NM_004970,NM_001146006,NR_027389 IGFALS,IGFALS,IGFALS EXON Missense_E198V,Missense_E236V,Silent exm1203632 16 1841949 [T/C] NM_004970,NM_001146006,NR_027389 IGFALS,IGFALS,IGFALS EXON Missense_R157H,Missense_R195H,Silent exm1203637 16 1841979 [A/G] NM_004970,NM_001146006,NR_027389 IGFALS,IGFALS,IGFALS EXON Missense_A147V,Missense_A185V,Silent exm1203643 16 1842130 [A/G] NM_004970,NM_001146006,NR_027389 IGFALS,IGFALS,IGFALS EXON Missense_L97F,Missense_L135F,Silent exm1203646 16 1842159 [A/G] NM_004970,NM_001146006,NR_027389 IGFALS,IGFALS,IGFALS EXON Missense_S87L,Missense_S125L,Silent exm1203652 16 1842211 [C/G] NM_004970,NM_001146006,NR_027389 IGFALS,IGFALS,IGFALS EXON Missense_D70H,Missense_D108H,Silent exm1203655 16 1842232 [T/C] NM_004970,NM_001146006,NR_027389 IGFALS,IGFALS,IGFALS EXON Missense_R63G,Missense_R101G,Silent exm2274796 16 1842261 [A/G] NM_004970,NM_001146006,NR_027389 IGFALS,IGFALS,IGFALS EXON Missense_A53V,Missense_A91V,Silent exm1203668 16 1842454 [A/G] NM_004970,NM_001146006,NR_027389 IGFALS,IGFALS,IGFALS EXON Silent,Missense_H27Y,Silent exm2224297 16 1842516 [A/G] NM_004970,NM_001146006,NR_027389 IGFALS,IGFALS,IGFALS EXON Silent,Missense_A6V,Silent exm1203679 16 1859310 [T/C] NM_001040427,NM_005326 HAGH,HAGH EXON Missense_D253N,Missense_D301N exm1203683 16 1859342 [A/G] NM_001040427,NM_005326 HAGH,HAGH EXON Missense_V242A,Missense_V290A exm1203685 16 1859345 [A/G] NM_001040427,NM_005326 HAGH,HAGH EXON Missense_P241L,Missense_P289L exm1203686 16 1859351 [A/G] NM_001040427,NM_005326 HAGH,HAGH EXON Missense_T239M,Missense_T287M exm1203715 16 1867236 [T/C] NM_001040427,NM_005326 HAGH,HAGH EXON Missense_Y145C,Missense_Y193C exm1203722 16 1869124 [A/G] NM_001040427,NM_005326 HAGH,HAGH EXON Missense_V130A,Missense_V178A exm1203726 16 1869158 [T/C] NM_001040427,NM_005326 HAGH,HAGH EXON Missense_V119M,Missense_V167M exm1203729 16 1869210 [A/G] NM_001040427,NM_005326 HAGH,HAGH EXON Synonymous_N101N,Synonymous_N149N exm1203741 16 1869987 [T/C] NM_001040427,NM_005326 HAGH,HAGH EXON Missense_V67I,Missense_V115I exm1203747 16 1872355 [A/G] NM_001040427,NM_005326 HAGH,HAGH EXON Missense_A39V,Missense_A87V exm1203751 16 1872922 [C/G] NM_001040427,NM_005326 HAGH,HAGH EXON Missense_V17L,Missense_V65L exm1203761 16 1877272 [A/G] NM_031208,NM_001142398,NM_001018104 FAHD1,FAHD1,FAHD1 EXON Nonsense_W14X,Nonsense_W14X,Nonsense_W14X exm1203768 16 1877385 [A/G] NM_031208,NM_001142398,NM_001018104 FAHD1,FAHD1,FAHD1 EXON Missense_Y52C,Missense_Y52C,Missense_Y52C exm1848736 16 1877393 [A/G] NM_031208,NM_001142398,NM_001018104 FAHD1,FAHD1,FAHD1 EXON Missense_E55K,Missense_E55K,Missense_E55K exm1203779 16 1877534 [T/G] NM_031208,NM_001142398,NM_001018104 FAHD1,FAHD1,FAHD1 EXON Missense_D102Y,Missense_D102Y,Missense_D102Y exm1203780 16 1877543 [T/G] NM_031208,NM_001142398,NM_001018104 FAHD1,FAHD1,FAHD1 EXON Missense_A105S,Missense_A105S,Missense_A105S exm1203783 16 1877558 [A/G] NM_031208,NM_001142398,NM_001018104 FAHD1,FAHD1,FAHD1 EXON Missense_D110N,Missense_D110N,Missense_D110N exm1203787 16 1877586 [A/G] NM_031208,NM_001142398,NM_001018104 FAHD1,FAHD1,FAHD1 EXON Nonsense_W119X,Nonsense_W119X,Nonsense_W119X exm1203791 16 1877618 [T/C] NM_031208,NM_001142398,NM_001018104 FAHD1,FAHD1,FAHD1 EXON Missense_P130S,Missense_P130S,Missense_P130S exm1848740 16 1877747 [A/C] NM_031208,NM_001142398,NM_001018104 FAHD1,FAHD1,FAHD1 EXON Missense_I173L,Missense_I173L,Missense_I173L exm1203813 16 1884281 [G/C] NM_001142398,NM_001018104,NM_001163560,NM_152764 FAHD1,FAHD1,MEIOB,MEIOB EXON Silent,Silent,Missense_N464K,Missense_N435K exm1203826 16 1889421 [A/C] NM_001142398,NM_001018104,NM_001163560,NM_152764 FAHD1,FAHD1,MEIOB,MEIOB EXON Silent,Silent,Missense_I351M,Missense_I351M exm1203827 16 1891843 [T/G] NM_001163560,NM_152764 MEIOB,MEIOB EXON Missense_T338P,Missense_T338P exm1203832 16 1891903 [A/C] NM_001163560,NM_152764 MEIOB,MEIOB EXON Missense_D318Y,Missense_D318Y exm1203838 16 1894961 [A/G] NM_001163560,NM_152764 MEIOB,MEIOB EXON Missense_I261T,Missense_I261T exm1203843 16 1903268 [T/C] NM_001163560,NM_152764 MEIOB,MEIOB EXON Missense_D212N,Missense_D212N exm1203849 16 1910418 [T/G] NM_001163560,NM_152764 MEIOB,MEIOB EXON Missense_S106R,Missense_S106R exm1203851 16 1912021 [T/G] NM_001163560,NM_152764 MEIOB,MEIOB EXON Missense_K75T,Missense_K75T exm1203855 16 1918125 [T/G] NM_001163560,NM_152764 MEIOB,MEIOB EXON Missense_T18P,Missense_T18P exm1203859 16 1918157 [A/G] NM_001163560,NM_152764 MEIOB,MEIOB EXON Missense_A7V,Missense_A7V exm1203863 16 1961647 [G/C] NM_001009606 HS3ST6 EXON Missense_R294G exm1203868 16 1961674 [C/G] NM_001009606 HS3ST6 EXON Missense_L285V exm1203873 16 1961745 [A/G] NM_001009606 HS3ST6 EXON Missense_A261V exm1849179 16 1961836 [A/G] NM_001009606 HS3ST6 EXON Missense_R231C exm1203881 16 1961842 [T/C] NM_001009606 HS3ST6 EXON Missense_V229I exm1203886 16 1961868 [T/C] NM_001009606 HS3ST6 EXON Missense_R220H exm1203888 16 1961875 [T/C] NM_001009606 HS3ST6 EXON Missense_G218R exm1203901 16 1962024 [A/G] NM_001009606 HS3ST6 EXON Missense_P168L exm1203909 16 1962123 [T/C] NM_001009606 HS3ST6 EXON Missense_R135H exm1203912 16 1962132 [A/G] NM_001009606 HS3ST6 EXON Missense_A132V exm1203913 16 1962141 [A/G] NM_001009606 HS3ST6 EXON Missense_T129M exm1203915 16 1962206 [T/C] NM_001009606 HS3ST6 EXON Synonymous_R107R exm1203917 16 1967915 [T/A] NM_001009606 HS3ST6 EXON Missense_Y106F exm1203918 16 1967918 [A/C] NM_001009606 HS3ST6 EXON Missense_W105L exm2267864 16 1974795 [A/G] exm1203925 16 1989135 [T/G] NM_016332 MSRB1 EXON Missense_T110N exm1203940 16 1991277 [T/C] NM_016332 MSRB1 EXON Missense_N62S exm1203966 16 1995499 [T/C] NM_005061 RPL3L Silent exm1203968 16 1995534 [T/C] NM_005061 RPL3L EXON Missense_R378H exm1203976 16 1995870 [C/G] NM_005061 RPL3L EXON Missense_A338G exm1203993 16 1996705 [A/G] NM_005061 RPL3L EXON Missense_P291L exm2252478 16 1996954 [T/C] NM_005061 RPL3L EXON Synonymous_T278T exm1204001 16 1996955 [A/G] NM_005061 RPL3L EXON Missense_T278M exm1204008 16 1997004 [T/C] NM_005061 RPL3L EXON Missense_V262M exm1204014 16 1997022 [T/C] NM_005061 RPL3L EXON Missense_A256T exm1204016 16 1997042 [T/C] NM_005061 RPL3L EXON Missense_R249H exm1204018 16 1997064 [A/G] NM_005061 RPL3L EXON Missense_R242W exm2224337 16 1997096 [A/G] NM_005061 RPL3L EXON Missense_V231A exm1204026 16 1997206 [T/C] NM_005061 RPL3L EXON Missense_R226Q exm1204029 16 1997248 [G/C] NM_005061 RPL3L EXON Missense_S212T exm1204034 16 1997284 [T/C] NM_005061 RPL3L EXON Missense_R200Q exm1204038 16 1997309 [T/C] NM_005061 RPL3L EXON Missense_E192K exm1204040 16 1997324 [T/C] NM_005061 RPL3L EXON Missense_G187S exm1204044 16 1997362 [T/C] NM_005061 RPL3L EXON Missense_R174Q exm1204045 16 1997363 [A/G] NM_005061 RPL3L EXON Missense_R174W exm1204047 16 2000846 [T/C] NM_005061 RPL3L EXON Missense_Q167R exm1204052 16 2000895 [T/C] NM_005061 RPL3L EXON Missense_A151T exm1204054 16 2000901 [T/C] NM_005061 RPL3L EXON Missense_D149N exm1204056 16 2000933 [T/C] NM_005061 RPL3L EXON Missense_R138Q exm1204062 16 2002896 [T/C] NM_005061 RPL3L EXON Missense_R115Q exm1204064 16 2002941 [T/C] NM_005061 RPL3L EXON Missense_R100Q exm1204066 16 2002960 [T/C] NM_005061 RPL3L EXON Missense_A94T exm1204077 16 2004002 [T/C] NM_005061 RPL3L EXON Missense_A51T exm1204081 16 2004119 [T/C] NM_005061 RPL3L EXON Missense_G12R exm1204083 16 2004142 [T/C] NM_005061 RPL3L EXON Missense_R4Q exm1204084 16 2004143 [A/G] NM_005061 RPL3L EXON Missense_R4W exm1204112 16 2011557 [T/G] NM_004548 NDUFB10 EXON Missense_R110M exm1204124 16 2011881 [A/G] NM_004548 NDUFB10 EXON Missense_K165E exm1204197 16 2017335 [A/G] NM_174903 RNF151 EXON Missense_V22I exm1204204 16 2017772 [A/G] NM_174903 RNF151 EXON Missense_V66I exm1204230 16 2018777 [T/C] NM_174903 RNF151 EXON Missense_R197C exm1204235 16 2018912 [A/G] NM_174903 RNF151 EXON Missense_I242V exm1204251 16 2024204 [T/C] NM_006453 TBL3 EXON Nonsense_Q34X exm1204252 16 2024205 [A/G] NM_006453 TBL3 EXON Missense_Q34R exm1204259 16 2024273 [A/G] NM_006453 TBL3 EXON Missense_V57M exm1849431 16 2024389 [T/G] NM_006453 TBL3 EXON Missense_D68Y exm1204283 16 2024803 [A/G] NM_006453 TBL3 EXON Missense_R140Q exm1204289 16 2024937 [G/C] NM_006453 TBL3 EXON Missense_A158G exm1204299 16 2025056 [G/C] NM_006453 TBL3 EXON Missense_V198L exm1204301 16 2025080 [A/G] NM_006453 TBL3 EXON Missense_D206N exm1204302 16 2025092 [A/G] NM_006453 TBL3 EXON Missense_M210V exm1204310 16 2025253 [T/C] NM_006453 TBL3 EXON Missense_P234L exm1204311 16 2025255 [A/G] NM_006453 TBL3 EXON Missense_V235M exm1204320 16 2025433 [A/G] NM_006453 TBL3 EXON Missense_D267N exm1204325 16 2025587 [T/C] NM_006453 TBL3 EXON Missense_P288L exm1204330 16 2025637 [A/G] NM_006453 TBL3 EXON Missense_G305S exm1204331 16 2025640 [A/G] NM_006453 TBL3 EXON Missense_V306M exm1204338 16 2025689 [A/G] NM_006453 TBL3 EXON Missense_R322H exm2224346 16 2025875 [A/G] NM_006453 TBL3 EXON Missense_V352M exm1204355 16 2026225 [A/G] NM_006453 TBL3 EXON Missense_R401H exm1204362 16 2026302 [A/G] NM_006453 TBL3 EXON Missense_V427I exm1204363 16 2026871 [G/C] NM_006453 TBL3 EXON Missense_P450R exm1204364 16 2026891 [T/C] NM_006453 TBL3 EXON Missense_S457P exm1204372 16 2027115 [T/C] NM_006453 TBL3 EXON Missense_R501C exm1204406 16 2027764 [A/G] NM_006453 TBL3 EXON Missense_A641T exm1204412 16 2027994 [A/G] NM_006453 TBL3 EXON Missense_R665Q exm1204421 16 2028151 [T/C] NM_006453 TBL3 EXON Synonymous_A688A exm1204422 16 2028156 [A/G] NM_006453 TBL3 EXON Missense_R690Q exm1204424 16 2028176 [A/G] NM_006453 TBL3 EXON Missense_E697K exm1204425 16 2028189 [T/C] NM_006453 TBL3 EXON Missense_A701V exm1204432 16 2028338 [T/C] NM_006453 TBL3 EXON Missense_T720M exm1204434 16 2028356 [A/G] NM_006453 TBL3 EXON Missense_R726Q exm1204447 16 2028594 [A/G] NM_006453 TBL3 EXON Missense_A779T exm1204448 16 2028633 [A/G] NM_006453 TBL3 EXON Missense_V792M exm2252481 16 2028677 [A/G] NM_006453 TBL3 EXON Synonymous_A806A exm1204467 16 2029498 [A/T] NM_172168,NM_172167,NM_001267721,NM_144603 NOXO1,NOXO1,NOXO1,NOXO1 EXON Missense_D254V,Missense_D249V,Missense_D253V,Missense_D248V exm1204470 16 2029522 [T/C] NM_172168,NM_172167,NM_001267721,NM_144603 NOXO1,NOXO1,NOXO1,NOXO1 EXON Missense_R246H,Missense_R241H,Missense_R245H,Missense_R240H exm1204474 16 2029538 [A/G] NM_172168,NM_172167,NM_001267721,NM_144603 NOXO1,NOXO1,NOXO1,NOXO1 EXON Nonsense_Q241X,Nonsense_Q236X,Nonsense_Q240X,Nonsense_Q235X exm1204478 16 2029842 [T/C] NM_172168,NM_172167,NM_001267721,NM_144603 NOXO1,NOXO1,NOXO1,NOXO1 EXON Missense_E222K,Missense_E217K,Missense_E221K,Missense_E216K exm1204487 16 2030033 [A/T] NM_172168,NM_172167,NM_001267721,NM_144603 NOXO1,NOXO1,NOXO1,NOXO1 EXON Missense_Q189L,Missense_Q184L,Missense_Q188L,Missense_Q183L exm1204490 16 2030055 [T/C] NM_172168,NM_172167,NM_001267721,NM_144603 NOXO1,NOXO1,NOXO1,NOXO1 EXON Missense_R182G,Missense_R177G,Missense_R181G,Missense_R176G exm1849507 16 2030061 [A/G] NM_172168,NM_172167,NM_001267721,NM_144603 NOXO1,NOXO1,NOXO1,NOXO1 EXON Missense_R180W,Missense_R175W,Missense_R179W,Missense_R174W exm1204492 16 2030091 [A/G] NM_172168,NM_172167,NM_001267721,NM_144603 NOXO1,NOXO1,NOXO1,NOXO1 EXON Missense_C170R,Missense_C165R,Missense_C169R,Missense_C164R exm1204495 16 2030114 [A/C] NM_172168,NM_172167,NM_001267721,NM_144603 NOXO1,NOXO1,NOXO1,NOXO1 EXON Missense_S162I,Missense_S157I,Missense_S161I,Missense_S156I exm1204497 16 2030127 [A/G] NM_172168,NM_172167,NM_001267721,NM_144603 NOXO1,NOXO1,NOXO1,NOXO1 EXON Missense_L158F,Missense_L153F,Missense_L157F,Missense_L152F exm1204504 16 2030434 [T/C] NM_172168,NM_172167,NM_001267721,NM_144603 NOXO1,NOXO1,NOXO1,NOXO1 EXON Missense_S117N,Missense_S112N,Missense_S116N,Missense_S111N exm1204510 16 2030690 [A/G] NM_172168,NM_172167,NM_001267721,NM_144603 NOXO1,NOXO1,NOXO1,NOXO1 EXON Missense_R64W,Missense_R64W,Missense_R63W,Missense_R63W exm1204512 16 2030971 [T/C] NM_172168,NM_172167,NM_001267721,NM_144603 NOXO1,NOXO1,NOXO1,NOXO1 EXON Missense_R39H,Missense_R39H,Missense_R39H,Missense_R39H exm1204522 16 2034463 [T/C] NM_005262 GFER EXON Missense_R82W exm1204530 16 2035868 [T/C] NM_005262 GFER EXON Synonymous_L153L exm1204532 16 2035907 [T/C] NM_005262 GFER EXON Missense_F166L exm2224354 16 2035935 [A/G] NM_005262 GFER EXON Missense_N175S exm1204538 16 2035961 [A/C] NM_005262 GFER EXON Missense_P184T exm2276413 16 2036002 [C/G] NM_005262 GFER EXON Missense_D197E exm1204569 16 2042650 [A/C] NM_004209 SYNGR3 EXON Missense_F117L exm1849681 16 2043062 [T/C] NM_004209 SYNGR3 EXON Missense_P227S exm1204616 16 2048437 [T/G] NM_178167 ZNF598 EXON Synonymous_R837R exm1204619 16 2048549 [T/C] NM_178167 ZNF598 EXON Missense_R800Q exm1204646 16 2049631 [A/G] NM_178167 ZNF598 EXON Missense_P640L exm1204647 16 2049640 [A/G] NM_178167 ZNF598 EXON Missense_M637T exm1204651 16 2049660 [A/G] NM_178167 ZNF598 EXON Synonymous_A630A exm1204652 16 2049661 [A/G] NM_178167 ZNF598 EXON Missense_A630V exm1204658 16 2049756 [T/G] NM_178167 ZNF598 EXON Synonymous_P598P exm1204661 16 2049829 [T/G] NM_178167 ZNF598 EXON Missense_S574Y exm1204662 16 2049831 [C/G] NM_178167 ZNF598 EXON Synonymous_V573V exm1204677 16 2050020 [A/G] NM_178167 ZNF598 EXON Synonymous_S510S exm1204687 16 2050192 [T/G] NM_178167 ZNF598 EXON Missense_S453Y exm1204692 16 2050236 [T/C] NM_178167 ZNF598 EXON Synonymous_P438P exm1204694 16 2050392 [T/C] NM_178167 ZNF598 EXON Missense_G431D exm1204701 16 2050454 [A/G] NM_178167 ZNF598 EXON Synonymous_P410P exm1204708 16 2051064 [T/C] NM_178167 ZNF598 EXON Missense_R381Q exm1204710 16 2051096 [A/G] NM_178167 ZNF598 EXON Synonymous_G370G exm1204711 16 2051106 [T/C] NM_178167 ZNF598 EXON Missense_Q367R exm1204722 16 2051169 [C/G] NM_178167 ZNF598 EXON Missense_A346G exm1204723 16 2051178 [T/C] NM_178167 ZNF598 EXON Missense_R343Q exm1204732 16 2051679 [A/G] NM_178167 ZNF598 EXON Synonymous_Y306Y exm1204753 16 2052340 [A/G] NM_178167 ZNF598 EXON Synonymous_H254H exm1204755 16 2052373 [G/C] NM_178167 ZNF598 EXON Missense_E243D exm1204758 16 2052394 [C/G] NM_178167 ZNF598 EXON Synonymous_R236R exm1204763 16 2052546 [A/G] NM_178167 ZNF598 EXON Missense_S218L exm1204768 16 2052641 [A/G] NM_178167 ZNF598 EXON Synonymous_H186H exm1204769 16 2052650 [A/G] NM_178167 ZNF598 EXON Synonymous_H183H exm1204772 16 2052707 [A/G] NM_178167 ZNF598 EXON Synonymous_Y164Y exm1204787 16 2053634 [A/C] NM_178167 ZNF598 EXON Missense_K106N exm1204838 16 2070164 [T/C] NM_001099456 NPW EXON Missense_P88S exm1204839 16 2070200 [G/C] NM_001099456 NPW EXON Missense_E100Q exm1204849 16 2070568 [A/C] NM_001099456 NPW EXON Missense_D149A exm1204851 16 2070582 [T/C] NM_001099456 NPW EXON Missense_R154C exm1204901 16 2086353 [A/G] NM_001130012,NM_004785,NM_001252073,NM_001252076,NM_001252075 SLC9A3R2,SLC9A3R2,SLC9A3R2,SLC9A3R2,SLC9A3R2 EXON Missense_R148H,Missense_R148H,Missense_R37H,Missense_R37H,Missense_R35H exm1204907 16 2086413 [T/A] NM_001130012,NM_004785,NM_001252073,NM_001252076,NM_001252075 SLC9A3R2,SLC9A3R2,SLC9A3R2,SLC9A3R2,SLC9A3R2 EXON Missense_D168V,Missense_D168V,Missense_D57V,Missense_D57V,Missense_D55V exm1204908 16 2086421 [T/C] NM_001130012,NM_004785,NM_001252073,NM_001252076,NM_001252075 SLC9A3R2,SLC9A3R2,SLC9A3R2,SLC9A3R2,SLC9A3R2 EXON Missense_R171W,Missense_R171W,Missense_R60W,Missense_R60W,Missense_R58W exm1204909 16 2086424 [T/C] NM_001130012,NM_004785,NM_001252073,NM_001252076,NM_001252075 SLC9A3R2,SLC9A3R2,SLC9A3R2,SLC9A3R2,SLC9A3R2 EXON Missense_P172S,Missense_P172S,Missense_P61S,Missense_P61S,Missense_P59S exm1204926 16 2086798 [A/G] NM_001130012,NM_004785,NM_001252073,NM_001252076,NM_001252075 SLC9A3R2,SLC9A3R2,SLC9A3R2,SLC9A3R2,SLC9A3R2 EXON Missense_E222K,Missense_E222K,Missense_E111K,Missense_E111K,Missense_E109K exm1204931 16 2086847 [A/G] NM_001130012,NM_004785,NM_001252073,NM_001252076,NM_001252075 SLC9A3R2,SLC9A3R2,SLC9A3R2,SLC9A3R2,SLC9A3R2 EXON Missense_R238Q,Missense_R238Q,Missense_R127Q,Missense_R127Q,Missense_R125Q exm1204932 16 2086852 [T/C] NM_001130012,NM_004785,NM_001252073,NM_001252076,NM_001252075 SLC9A3R2,SLC9A3R2,SLC9A3R2,SLC9A3R2,SLC9A3R2 EXON Missense_R240W,Missense_R240W,Missense_R129W,Missense_R129W,Missense_R127W exm1204939 16 2086989 [C/G] NM_001130012,NM_004785,NM_001252073,NM_001252076,NM_001252075 SLC9A3R2,SLC9A3R2,SLC9A3R2,SLC9A3R2,SLC9A3R2 EXON Missense_S261T,Missense_S261T,Missense_S150T,Missense_S150T,Missense_S148T exm2252487 16 2087547 [T/G] NM_001130012,NM_004785,NM_001252073,NM_001252076,NM_001252075 SLC9A3R2,SLC9A3R2,SLC9A3R2,SLC9A3R2,SLC9A3R2 EXON Synonymous_G267G,Synonymous_G267G,Synonymous_G156G,Synonymous_G156G,Synonymous_G154G exm1204943 16 2087547 [T/G] NM_001130012,NM_004785,NM_001252073,NM_001252076,NM_001252075 SLC9A3R2,SLC9A3R2,SLC9A3R2,SLC9A3R2,SLC9A3R2 EXON Synonymous_G267G,Synonymous_G267G,Synonymous_G156G,Synonymous_G156G,Synonymous_G154G exm2252488 16 2087562 [A/G] NM_001130012,NM_004785,NM_001252073,NM_001252076,NM_001252075 SLC9A3R2,SLC9A3R2,SLC9A3R2,SLC9A3R2,SLC9A3R2 EXON Synonymous_S272S,Synonymous_S272S,Synonymous_S161S,Synonymous_S161S,Synonymous_S159S exm1204945 16 2087562 [A/G] NM_001130012,NM_004785,NM_001252073,NM_001252076,NM_001252075 SLC9A3R2,SLC9A3R2,SLC9A3R2,SLC9A3R2,SLC9A3R2 EXON Synonymous_S272S,Synonymous_S272S,Synonymous_S161S,Synonymous_S161S,Synonymous_S159S exm1204957 16 2090005 [A/G] NM_002528 NTHL1 EXON Nonsense_Q287X exm1204966 16 2090177 [T/A] NM_002528 NTHL1 EXON Missense_S258T exm1204969 16 2090213 [T/C] NM_002528 NTHL1 EXON Missense_A246T exm1204981 16 2094653 [A/G] NM_002528 NTHL1 EXON Missense_I176T exm1204994 16 2096208 [T/C] NM_002528 NTHL1 EXON Missense_R100H exm1204995 16 2096209 [A/G] NM_002528 NTHL1 EXON Missense_R100C exm1204996 16 2096215 [T/C] NM_002528 NTHL1 EXON Missense_N98D exm1204998 16 2096239 [A/G] NM_002528 NTHL1 EXON Nonsense_Q90X exm1205003 16 2096334 [A/G] NM_002528 NTHL1 EXON Missense_P58L exm-rs2516739 16 2097158 [A/G] NM_002528 NTHL1 Silent exm1205017 16 2100410 [A/G] NM_001077183,NM_001114382,NM_000548 TSC2,TSC2,TSC2 EXON Missense_M50V,Missense_M50V,Missense_M50V exm1205018 16 2100429 [A/G] NM_001077183,NM_001114382,NM_000548 TSC2,TSC2,TSC2 EXON Missense_N56S,Missense_N56S,Missense_N56S exm1205020 16 2100464 [A/G] NM_001077183,NM_001114382,NM_000548 TSC2,TSC2,TSC2 EXON Missense_A68T,Missense_A68T,Missense_A68T exm1205024 16 2103368 [T/C] NM_001077183,NM_001114382,NM_000548 TSC2,TSC2,TSC2 EXON Missense_A84V,Missense_A84V,Missense_A84V exm1205028 16 2103389 [T/C] NM_001077183,NM_001114382,NM_000548 TSC2,TSC2,TSC2 EXON Missense_P91L,Missense_P91L,Missense_P91L exm1205029 16 2103392 [A/T] NM_001077183,NM_001114382,NM_000548 TSC2,TSC2,TSC2 EXON Missense_E92V,Missense_E92V,Missense_E92V exm1205044 16 2105504 [A/G] NM_001077183,NM_001114382,NM_000548 TSC2,TSC2,TSC2 EXON Missense_I195V,Missense_I195V,Missense_I195V exm1205046 16 2106216 [A/G] NM_001077183,NM_001114382,NM_000548 TSC2,TSC2,TSC2 EXON Missense_V207I,Missense_V207I,Missense_V207I exm1205049 16 2106225 [A/G] NM_001077183,NM_001114382,NM_000548 TSC2,TSC2,TSC2 EXON Missense_A210T,Missense_A210T,Missense_A210T exm1205058 16 2106717 [A/G] NM_001077183,NM_001114382,NM_000548 TSC2,TSC2,TSC2 EXON Missense_V241I,Missense_V241I,Missense_V241I exm1205063 16 2106756 [A/G] NM_001077183,NM_001114382,NM_000548 TSC2,TSC2,TSC2 EXON Missense_E254K,Missense_E254K,Missense_E254K exm1205067 16 2108755 [A/G] NM_001077183,NM_001114382,NM_000548 TSC2,TSC2,TSC2 EXON Missense_M286V,Missense_M286V,Missense_M286V exm1205071 16 2108825 [T/A] NM_001077183,NM_001114382,NM_000548 TSC2,TSC2,TSC2 EXON Missense_L309H,Missense_L309H,Missense_L309H exm2252491 16 2108847 [A/G] NM_001077183,NM_001114382,NM_000548 TSC2,TSC2,TSC2 EXON Synonymous_P316P,Synonymous_P316P,Synonymous_P316P exm1205080 16 2110765 [T/C] NM_001077183,NM_001114382,NM_000548 TSC2,TSC2,TSC2 EXON Missense_A357V,Missense_A357V,Missense_A357V exm1205091 16 2112532 [T/C] NM_001077183,NM_001114382,NM_000548 TSC2,TSC2,TSC2 EXON Missense_A431V,Missense_A431V,Missense_A431V exm1205101 16 2112989 [A/G] NM_001077183,NM_001114382,NM_000548 TSC2,TSC2,TSC2 EXON Missense_A460T,Missense_A460T,Missense_A460T exm1205103 16 2112998 [A/G] NM_001077183,NM_001114382,NM_000548 TSC2,TSC2,TSC2 EXON Missense_I463V,Missense_I463V,Missense_I463V exm1205118 16 2115529 [T/C] NM_001077183,NM_001114382,NM_000548 TSC2,TSC2,TSC2 EXON Missense_R537C,Missense_R537C,Missense_R537C exm1205126 16 2120487 [A/G] NM_001077183,NM_001114382,NM_000548 TSC2,TSC2,TSC2 EXON Missense_A583T,Missense_A583T,Missense_A583T exm1205131 16 2120559 [A/G] NM_001077183,NM_001114382,NM_000548 TSC2,TSC2,TSC2 EXON Missense_A607T,Missense_A607T,Missense_A607T exm1205137 16 2121536 [A/G] NM_001077183,NM_001114382,NM_000548 TSC2,TSC2,TSC2 EXON Missense_R622Q,Missense_R622Q,Missense_R622Q exm1205142 16 2121610 [A/G] NM_001077183,NM_001114382,NM_000548 TSC2,TSC2,TSC2 EXON Missense_D647N,Missense_D647N,Missense_D647N exm1205143 16 2121617 [T/C] NM_001077183,NM_001114382,NM_000548 TSC2,TSC2,TSC2 EXON Missense_M649T,Missense_M649T,Missense_M649T exm1205152 16 2121912 [A/G] NM_001077183,NM_001114382,NM_000548 TSC2,TSC2,TSC2 EXON Missense_V692I,Missense_V692I,Missense_V692I exm1205160 16 2122925 [A/G] NM_001077183,NM_001114382,NM_000548 TSC2,TSC2,TSC2 EXON Missense_V766M,Missense_V766M,Missense_V766M exm1205215 16 2129052 [A/G] NM_001077183,NM_001114382,NM_000548 TSC2,TSC2,TSC2 EXON Missense_T952A,Missense_T996A,Missense_T996A exm2252495 16 2129165 [T/C] NM_001077183,NM_001114382,NM_000548 TSC2,TSC2,TSC2 EXON Synonymous_Y989Y,Synonymous_Y1033Y,Synonymous_Y1033Y exm1205225 16 2129285 [T/C] NM_001077183,NM_001114382,NM_000548 TSC2,TSC2,TSC2 EXON Missense_V1003A,Missense_V1047A,Missense_V1047A exm1205240 16 2130189 [A/G] NM_001077183,NM_001114382,NM_000548 TSC2,TSC2,TSC2 EXON Missense_A1097T,Missense_A1141T,Missense_A1141T exm1205241 16 2130190 [T/C] NM_001077183,NM_001114382,NM_000548 TSC2,TSC2,TSC2 EXON Missense_A1097V,Missense_A1141V,Missense_A1141V exm1205243 16 2130198 [A/G] NM_001077183,NM_001114382,NM_000548 TSC2,TSC2,TSC2 EXON Missense_V1100M,Missense_V1144M,Missense_V1144M exm2224413 16 2130243 [T/C] NM_001077183,NM_001114382,NM_000548 TSC2,TSC2,TSC2 EXON Missense_R1115W,Missense_R1159W,Missense_R1159W exm1205249 16 2130259 [T/C] NM_001077183,NM_001114382,NM_000548 TSC2,TSC2,TSC2 EXON Missense_A1120V,Missense_A1164V,Missense_A1164V exm1205252 16 2130325 [A/G] NM_001077183,NM_001114382,NM_000548 TSC2,TSC2,TSC2 EXON Missense_Y1142C,Missense_Y1186C,Missense_Y1186C exm1205267 16 2131754 [G/C] NM_001077183,NM_001114382,NM_000548 TSC2,TSC2,TSC2 EXON Missense_A1213P,Missense_A1257P,Missense_A1257P exm1205268 16 2131755 [T/C] NM_001077183,NM_001114382,NM_000548 TSC2,TSC2,TSC2 EXON Missense_A1213V,Missense_A1257V,Missense_A1257V exm1850531 16 2131788 [A/G] NM_001077183,NM_001114382,NM_000548 TSC2,TSC2,TSC2 EXON Missense_R1224H,Missense_R1268H,Missense_R1268H exm1205285 16 2133701 [A/G] NM_001077183,NM_001114382,NM_000548 TSC2,TSC2,TSC2 EXON Missense_A1230T,Missense_A1274T,Missense_A1297T exm1205287 16 2133726 [T/C] NM_001077183,NM_001114382,NM_000548 TSC2,TSC2,TSC2 EXON Missense_P1238L,Missense_P1282L,Missense_P1305L exm1205290 16 2133731 [A/G] NM_001077183,NM_001114382,NM_000548 TSC2,TSC2,TSC2 EXON Missense_E1240K,Missense_E1284K,Missense_E1307K exm1205294 16 2133798 [A/G] NM_001077183,NM_001114382,NM_000548 TSC2,TSC2,TSC2 EXON Missense_R1262H,Missense_R1306H,Missense_R1329H exm1850547 16 2134233 [T/C] NM_001077183,NM_001114382,NM_000548 TSC2,TSC2,TSC2 EXON Missense_S1270F,Missense_S1314F,Missense_S1337F exm1205306 16 2134328 [T/C] NM_001077183,NM_001114382,NM_000548 TSC2,TSC2,TSC2 EXON Missense_R1302W,Missense_R1346W,Missense_R1369W exm1205308 16 2134359 [T/C] NM_001077183,NM_001114382,NM_000548 TSC2,TSC2,TSC2 EXON Missense_S1312L,Missense_S1356L,Missense_S1379L exm1205309 16 2134418 [A/G] NM_001077183,NM_001114382,NM_000548 TSC2,TSC2,TSC2 EXON Missense_G1332R,Missense_G1376R,Missense_G1399R exm1205313 16 2134446 [T/G] NM_001077183,NM_001114382,NM_000548 TSC2,TSC2,TSC2 EXON Missense_G1341V,Missense_G1385V,Missense_G1408V exm1205317 16 2134508 [T/G] NM_001077183,NM_001114382,NM_000548 TSC2,TSC2,TSC2 EXON Missense_A1362S,Missense_A1406S,Missense_A1429S exm1205320 16 2134539 [A/G] NM_001077183,NM_001114382,NM_000548 TSC2,TSC2,TSC2 EXON Missense_G1372D,Missense_G1416D,Missense_G1439D exm1205334 16 2135023 [A/G] NM_001077183,NM_001114382,NM_000548 TSC2,TSC2,TSC2 EXON Missense_N1455S,Missense_N1499S,Missense_N1522S exm2224415 16 2135282 [A/G] NM_001077183,NM_001114382,NM_000548 TSC2,TSC2,TSC2 EXON Missense_D1474N,Missense_D1518N,Missense_D1541N exm1850576 16 2138074 [A/C] NM_001077183,NM_001114382,NM_000548 TSC2,TSC2,TSC2 EXON Missense_S1631R,Missense_S1675R,Missense_S1698R exm1205373 16 2138096 [T/C] NM_001077183,NM_001114382,NM_000548 TSC2,TSC2,TSC2 EXON Missense_R1639C,Missense_R1683C,Missense_R1706C exm1205375 16 2138111 [A/G] NM_001077183,NM_001114382,NM_000548 TSC2,TSC2,TSC2 EXON Missense_V1644M,Missense_V1688M,Missense_V1711M exm1205381 16 2138252 [T/C] NM_001077183,NM_001114382,NM_000548 TSC2,TSC2,TSC2 EXON Missense_R1662C,Missense_R1706C,Missense_R1729C exm1205392 16 2138449 [C/G] NM_001077183,NM_001114382,NM_000548 TSC2,TSC2,TSC2 EXON Missense_I1687M,Missense_I1731M,Missense_I1754M exm1205400 16 2138508 [C/G] NM_001077183,NM_001114382,NM_000548 TSC2,TSC2,TSC2 EXON Missense_S1707T,Missense_S1751T,Missense_S1774T exm1205401 16 2138546 [A/G] NM_001077183,NM_001114382,NM_000548 TSC2,TSC2,TSC2 EXON Missense_G1720S,Missense_G1764S,Missense_G1787S exm1205404 16 2138570 [T/C] NM_001077183,NM_001114382,NM_000548 TSC2,TSC2,TSC2 EXON Missense_R1728C,Missense_R1772C,Missense_R1795C exm1850599 16 2139969 [T/G] NM_000296,NM_001009944 PKD1,PKD1 EXON Missense_T4223N,Missense_T4224N exm1205441 16 2140180 [A/G] NM_000296,NM_001009944 PKD1,PKD1 EXON Missense_R4153C,Missense_R4154C exm1205451 16 2140294 [T/C] NM_000296,NM_001009944 PKD1,PKD1 EXON Missense_V4145I,Missense_V4146I exm1205476 16 2140554 [A/G] NM_000296,NM_001009944 PKD1,PKD1 EXON Missense_A4058V,Missense_A4059V exm1205480 16 2140680 [T/C] NM_000296,NM_001009944 PKD1,PKD1 EXON Missense_I4044V,Missense_I4045V exm1205485 16 2140762 [G/C] NM_000296,NM_001009944 PKD1,PKD1 EXON Missense_K4016N,Missense_K4017N exm1205491 16 2140923 [T/C] NM_000296,NM_001009944 PKD1,PKD1 EXON Missense_G3988S,Missense_G3989S exm1205503 16 2141154 [T/C] NM_000296,NM_001009944 PKD1,PKD1 EXON Missense_V3911M,Missense_V3912M exm1205517 16 2141834 [C/G] NM_000296,NM_001009944 PKD1,PKD1 EXON Missense_E3828Q,Missense_E3829Q exm1205525 16 2142103 [C/G] NM_000296,NM_001009944 PKD1,PKD1 EXON Missense_E3785Q,Missense_E3786Q exm1205529 16 2142122 [C/G] NM_000296,NM_001009944 PKD1,PKD1 EXON Missense_S3778R,Missense_S3779R exm1205543 16 2142976 [T/C] NM_000296,NM_001009944 PKD1,PKD1 EXON Missense_R3711Q,Missense_R3712Q exm1205544 16 2142977 [A/G] NM_000296,NM_001009944 PKD1,PKD1 EXON Missense_R3711W,Missense_R3712W exm1205554 16 2143546 [T/C] NM_000296,NM_001009944 PKD1,PKD1 EXON Missense_R3671Q,Missense_R3672Q exm1205555 16 2143547 [A/G] NM_000296,NM_001009944 PKD1,PKD1 EXON Missense_R3671W,Missense_R3672W exm1850646 16 2143955 [T/C] NM_000296,NM_001009944 PKD1,PKD1 EXON Missense_G3559R,Missense_G3560R exm1205576 16 2143979 [A/C] NM_000296,NM_001009944 PKD1,PKD1 EXON Missense_A3551S,Missense_A3552S exm1205580 16 2144137 [A/C] NM_000296,NM_001009944 PKD1,PKD1 EXON Missense_G3524V,Missense_G3525V exm1205582 16 2144176 [A/G] NM_000296,NM_001009944 PKD1,PKD1 EXON Missense_A3511V,Missense_A3512V exm1205585 16 2144182 [A/G] NM_000296,NM_001009944 PKD1,PKD1 EXON Missense_T3509M,Missense_T3510M exm1205590 16 2147219 [T/G] NM_000296,NM_001009944 PKD1,PKD1 EXON Missense_L3476I,Missense_L3477I exm1205593 16 2147325 [A/G] NM_000296,NM_001009944 PKD1,PKD1 EXON Missense_A3466V,Missense_A3467V exm1205594 16 2147328 [A/G] NM_000296,NM_001009944 PKD1,PKD1 EXON Missense_S3465L,Missense_S3466L exm1205597 16 2147338 [T/C] NM_000296,NM_001009944 PKD1,PKD1 EXON Missense_K3462E,Missense_K3463E exm1205709 16 2152865 [C/G] NM_000296,NM_001009944 PKD1,PKD1 EXON Missense_E2966D,Missense_E2966D exm1205911 16 2158623 [T/C] NM_000296,NM_001009944 PKD1,PKD1 EXON Missense_Q2182R,Missense_Q2182R exm1206004 16 2159626 [A/G] NM_000296,NM_001009944 PKD1,PKD1 EXON Missense_R1848C,Missense_R1848C exm1206047 16 2160205 [A/C] NM_000296,NM_001009944 PKD1,PKD1 EXON Missense_V1655L,Missense_V1655L exm1206061 16 2160330 [A/G] NM_000296,NM_001009944 PKD1,PKD1 EXON Missense_A1613V,Missense_A1613V exm1206064 16 2160358 [T/C] NM_000296,NM_001009944 PKD1,PKD1 EXON Missense_V1604M,Missense_V1604M exm1206135 16 2161113 [T/C] NM_000296,NM_001009944 PKD1,PKD1 EXON Missense_S1352N,Missense_S1352N exm1206139 16 2161150 [A/G] NM_000296,NM_001009944 PKD1,PKD1 EXON Missense_R1340W,Missense_R1340W exm2276416 16 2199999 [A/G] NM_014353 RAB26 EXON Missense_D85N exm1206341 16 2200051 [A/G] NM_014353 RAB26 EXON Missense_R102Q exm1206352 16 2201727 [A/G] NM_014353 RAB26 EXON Missense_R127H exm2252499 16 2201755 [T/C] NM_014353 RAB26 EXON Synonymous_D136D exm1206370 16 2203041 [T/G] NM_014353 RAB26 EXON Missense_A196S exm1206375 16 2203334 [A/G] NM_014353 RAB26 EXON Missense_R228H exm1206376 16 2203354 [A/G] NM_014353 RAB26 EXON Missense_E235K exm1206377 16 2203367 [A/G] NM_014353 RAB26 EXON Missense_R239Q exm1851112 16 2215883 [A/G] NM_032271 TRAF7 EXON Missense_R29G exm1206395 16 2215901 [A/G] NM_032271 TRAF7 EXON Missense_G35R exm1206400 16 2218079 [T/C] NM_032271 TRAF7 EXON Synonymous_A47A exm1206401 16 2218090 [A/G] NM_032271 TRAF7 EXON Missense_S51N exm2252500 16 2220641 [T/C] NM_032271 TRAF7 EXON Synonymous_S86S exm1206470 16 2223996 [A/G] NM_032271 TRAF7 EXON Missense_V404I exm1206478 16 2225347 [T/C] NM_032271 TRAF7 EXON Missense_H478Y exm2252502 16 2228644 [A/G] NM_020764 CASKIN1 EXON Synonymous_D1401D exm1206526 16 2229617 [A/G] NM_020764 CASKIN1 EXON Missense_P1251L exm1206542 16 2230023 [G/C] NM_020764 CASKIN1 EXON Missense_A1116P exm1206581 16 2230980 [G/C] NM_020764 CASKIN1 EXON Missense_P797A exm1206594 16 2231210 [A/G] NM_020764 CASKIN1 EXON Missense_P720L exm1206599 16 2231273 [T/C] NM_020764 CASKIN1 EXON Missense_R699Q exm1851286 16 2231442 [T/C] NM_020764 CASKIN1 EXON Missense_D643N exm1206614 16 2231504 [A/G] NM_020764 CASKIN1 EXON Missense_A622V exm1206642 16 2233912 [T/C] NM_020764 CASKIN1 EXON Missense_A483T exm1206669 16 2235162 [T/C] NM_020764 CASKIN1 EXON Missense_G397S exm1206680 16 2236774 [A/G] NM_020764 CASKIN1 EXON Missense_R328W exm1206689 16 2237062 [T/C] NM_020764 CASKIN1 EXON Missense_A283T exm1206724 16 2240341 [T/C] NM_020764 CASKIN1 EXON Missense_K38R exm1206745 16 2256582 [T/C] NM_001199175,NM_001199173,NM_022372,NM_001199174 MLST8,MLST8,MLST8,MLST8 EXON Missense_A88V,Missense_A89V,Missense_A89V,Missense_A89V exm1206757 16 2257299 [A/G] NM_001199175,NM_001199173,NM_022372,NM_001199174 MLST8,MLST8,MLST8,MLST8 EXON Missense_A175T,Missense_A176T,Missense_A176T,Missense_A176T exm1206760 16 2257346 [T/C] NM_001199175,NM_001199173,NM_022372,NM_001199174 MLST8,MLST8,MLST8,MLST8 EXON Synonymous_T190T,Synonymous_T191T,Synonymous_T191T,Synonymous_T191T exm1206776 16 2258575 [A/G] NM_001199175,NM_001199173,NM_022372,NM_001199174 MLST8,MLST8,MLST8,MLST8 EXON Missense_G274S,Missense_G275S,Missense_G275S,Missense_G275S exm1206794 16 2259410 [A/G] NM_001199175,NM_001199173,NM_022372,NM_001199174,NM_182563 MLST8,MLST8,MLST8,MLST8,BRICD5 EXON Silent,Silent,Silent,Silent,Missense_P214S exm1206797 16 2259442 [T/C] NM_182563 BRICD5 EXON Missense_R203Q exm1206800 16 2259451 [T/C] NM_182563 BRICD5 EXON Missense_R200Q exm1206802 16 2259552 [A/G] NM_182563 BRICD5 Silent exm1206804 16 2259566 [A/G] NM_182563 BRICD5 EXON Missense_R194W exm1206805 16 2259598 [T/C] NM_182563 BRICD5 EXON Missense_R183H exm1206814 16 2259665 [C/G] NM_182563 BRICD5 EXON Missense_Q161E exm1206815 16 2259673 [T/C] NM_182563 BRICD5 EXON Missense_H158R exm1206817 16 2259955 [A/G] NM_182563 BRICD5 EXON Missense_S145F exm1206819 16 2259986 [A/G] NM_182563 BRICD5 EXON Missense_R135W exm1206821 16 2260024 [T/G] NM_182563 BRICD5 EXON Missense_H122P exm1206822 16 2260025 [A/G] NM_182563 BRICD5 EXON Missense_H122Y exm1206833 16 2260200 [T/C] NM_182563 BRICD5 EXON Missense_R88Q exm1206842 16 2260257 [A/G] NM_182563 BRICD5 EXON Missense_T69I exm1206847 16 2260567 [T/C] NM_182563 BRICD5 EXON Missense_V46I exm1206851 16 2260612 [T/C] NM_182563 BRICD5 EXON Missense_S31G exm1206855 16 2260789 [T/C] NM_182563 BRICD5 EXON Missense_T16A exm1206869 16 2263822 [A/C] NM_001042371 PGP EXON Missense_N291K exm1206870 16 2263836 [T/C] NM_001042371 PGP EXON Missense_G287R exm2252504 16 2263870 [T/C] NM_001042371 PGP EXON Synonymous_K275K exm1206881 16 2264249 [T/C] NM_001042371 PGP EXON Missense_S177N exm1206904 16 2273676 [A/C] NM_004424 E4F1 EXON Missense_A21D exm1206920 16 2279613 [A/G] NM_004424 E4F1 EXON Missense_A118T exm1206921 16 2279614 [A/C] NM_004424 E4F1 EXON Missense_A118D exm1206922 16 2279625 [A/G] NM_004424 E4F1 EXON Missense_V122M exm1206927 16 2282198 [T/G] NM_004424 E4F1 EXON Missense_V148L exm1206929 16 2282244 [T/C] NM_004424 E4F1 EXON Missense_P163L exm1206937 16 2282496 [T/C] NM_004424 E4F1 EXON Missense_R217C exm1206953 16 2283048 [T/C] NM_004424 E4F1 EXON Missense_T307I exm1851560 16 2283164 [A/G] NM_004424 E4F1 EXON Missense_M346V exm1206960 16 2283445 [A/G] NM_004424 E4F1 EXON Missense_V355I exm1206961 16 2283461 [G/C] NM_004424 E4F1 EXON Missense_P360R exm1206962 16 2283475 [C/G] NM_004424 E4F1 EXON Missense_G365R exm1206982 16 2284192 [A/G] NM_004424 E4F1 EXON Missense_A466T exm1206999 16 2284726 [A/G] NM_004424 E4F1 EXON Missense_K579R exm1207015 16 2285089 [A/C] NM_004424 E4F1 EXON Missense_A648E exm1207019 16 2285268 [A/G] NM_004424 E4F1 EXON Missense_A684T exm1207023 16 2285314 [T/C] NM_004424 E4F1 EXON Missense_T699M exm1207027 16 2285332 [T/C] NM_004424 E4F1 EXON Missense_A705V exm1207034 16 2285437 [A/G] NM_004424 E4F1 EXON Missense_R740Q exm1207035 16 2285461 [A/G] NM_004424 E4F1 EXON Missense_Q748R exm1207042 16 2286876 [A/C] NM_001374 DNASE1L2 EXON Missense_A20D exm1207052 16 2287231 [C/G] NM_001374 DNASE1L2 EXON Missense_H82Q exm1207054 16 2287265 [T/C] NM_001374 DNASE1L2 EXON Missense_R94W exm1207060 16 2287535 [T/C] NM_001374 DNASE1L2 EXON Missense_A159V exm1207064 16 2287607 [T/C] NM_001374 DNASE1L2 EXON Missense_L183P exm1207066 16 2287649 [A/C] NM_001374 DNASE1L2 EXON Missense_D197A exm1207067 16 2287651 [A/G] NM_001374 DNASE1L2 Silent exm1207069 16 2287838 [A/G] NM_001374 DNASE1L2 EXON Missense_R221H exm1207073 16 2287867 [T/C] NM_001374 DNASE1L2 EXON Missense_L231F exm1207086 16 2289990 [T/C] NM_001178029,NM_001919 ECI1,ECI1 EXON Missense_E283G,Missense_E300G exm1207087 16 2290052 [C/G] NM_001178029,NM_001919 ECI1,ECI1 EXON Missense_S262R,Missense_S279R exm1207088 16 2290069 [T/C] NM_001178029,NM_001919 ECI1,ECI1 EXON Missense_V257M,Missense_V274M exm1207090 16 2290080 [T/C] NM_001178029,NM_001919 ECI1,ECI1 EXON Missense_R253H,Missense_R270H exm1207096 16 2290104 [A/G] NM_001178029,NM_001919 ECI1,ECI1 EXON Missense_T245M,Missense_T262M exm1207099 16 2290137 [T/C] NM_001178029,NM_001919 ECI1,ECI1 EXON Missense_R234Q,Missense_R251Q exm1207114 16 2293318 [A/C] NM_001178029,NM_001919 ECI1,ECI1 Silent,Silent exm1207120 16 2294440 [G/C] NM_001178029,NM_001919 ECI1,ECI1 EXON Nonsense_Y136X,Nonsense_Y136X exm1207124 16 2294466 [T/C] NM_001178029,NM_001919 ECI1,ECI1 EXON Missense_V128I,Missense_V128I exm1207129 16 2294549 [T/C] NM_001178029,NM_001919 ECI1,ECI1 EXON Missense_R100H,Missense_R100H exm1207133 16 2296877 [T/C] NM_001178029,NM_001919 ECI1,ECI1 EXON Missense_G93S,Missense_G93S exm1207138 16 2296927 [A/G] NM_001178029,NM_001919 ECI1,ECI1 EXON Missense_T76M,Missense_T76M exm1207147 16 2301527 [T/A] NM_001178029,NM_001919 ECI1,ECI1 EXON Missense_L14Q,Missense_L14Q exm1207184 16 2314313 [A/G] NM_006711,NM_080594 RNPS1,RNPS1 EXON Missense_R31C,Missense_R31C exm2272333 16 2324069 [T/G] exm1207198 16 2326689 [T/C] NM_001089 ABCA3 EXON Missense_E1701K exm1207232 16 2329071 [A/G] NM_001089 ABCA3 EXON Missense_R1474W exm1851789 16 2329098 [T/C] NM_001089 ABCA3 EXON Missense_D1465N exm1207236 16 2329121 [T/C] NM_001089 ABCA3 EXON Missense_R1457Q exm1207245 16 2331173 [A/G] NM_001089 ABCA3 EXON Missense_A1405V exm1207246 16 2331174 [T/C] NM_001089 ABCA3 EXON Missense_A1405T exm1207255 16 2331461 [A/G] NM_001089 ABCA3 EXON Missense_A1362V exm1207257 16 2333194 [T/C] NM_001089 ABCA3 EXON Missense_R1343Q exm1207259 16 2333210 [T/C] NM_001089 ABCA3 EXON Missense_A1338T exm1207269 16 2334301 [T/C] NM_001089 ABCA3 EXON Missense_A1281T exm1207275 16 2334358 [T/C] NM_001089 ABCA3 EXON Missense_S1262G exm1207282 16 2334881 [T/A] NM_001089 ABCA3 EXON Missense_F1201Y exm1207290 16 2335456 [A/C] NM_001089 ABCA3 EXON Missense_S1157I exm1207304 16 2335647 [T/C] NM_001089 ABCA3 EXON Synonymous_E1093E exm1207314 16 2336807 [T/C] NM_001089 ABCA3 EXON Missense_V1056I exm1207318 16 2336861 [T/C] NM_001089 ABCA3 EXON Missense_V1038I exm1207319 16 2336869 [T/C] NM_001089 ABCA3 EXON Missense_R1035H exm1207323 16 2336921 [T/C] NM_001089 ABCA3 EXON Missense_G1018S exm1207328 16 2338028 [A/G] NM_001089 ABCA3 EXON Synonymous_L1001L exm1207338 16 2338177 [T/C] NM_001089 ABCA3 EXON Missense_D952N exm1207350 16 2339460 [T/C] NM_001089 ABCA3 EXON Missense_R892H exm1207353 16 2339491 [T/C] NM_001089 ABCA3 EXON Missense_D882N exm1207369 16 2345672 [T/C] NM_001089 ABCA3 EXON Missense_H778R exm1207370 16 2345696 [A/G] NM_001089 ABCA3 EXON Missense_P770L exm1207371 16 2345709 [A/G] NM_001089 ABCA3 EXON Missense_P766S exm1207377 16 2347377 [G/C] NM_001089 ABCA3 EXON Missense_G739A exm1207381 16 2347468 [A/G] NM_001089 ABCA3 EXON Missense_R709W exm1207382 16 2347474 [A/G] NM_001089 ABCA3 EXON Missense_L707F exm1207386 16 2347515 [A/G] NM_001089 ABCA3 EXON Missense_S693L exm1207393 16 2347859 [C/G] NM_001089 ABCA3 EXON Missense_L654V exm1207395 16 2347906 [T/C] NM_001089 ABCA3 EXON Missense_R638H exm1207396 16 2348392 [T/C] NM_001089 ABCA3 EXON Missense_A631T exm1207404 16 2348517 [T/C] NM_001089 ABCA3 EXON Missense_R589Q exm1207405 16 2348518 [A/G] NM_001089 ABCA3 EXON Missense_R589W exm1207426 16 2350068 [T/C] NM_001089 ABCA3 EXON Missense_E517K exm1207428 16 2350115 [T/G] NM_001089 ABCA3 EXON Missense_A501E exm1207430 16 2353972 [A/T] NM_001089 ABCA3 EXON Missense_M489L exm1207439 16 2358553 [A/G] NM_001089 ABCA3 EXON Missense_R395W exm2252510 16 2367685 [A/G] NM_001089 ABCA3 EXON Synonymous_I318I exm1207460 16 2367764 [A/T] NM_001089 ABCA3 EXON Missense_E292V exm1207461 16 2369592 [T/C] NM_001089 ABCA3 EXON Missense_R288K exm1207465 16 2369617 [A/G] NM_001089 ABCA3 EXON Missense_R280C exm1207466 16 2369631 [A/G] NM_001089 ABCA3 EXON Missense_A275V exm1207483 16 2369821 [T/G] NM_001089 ABCA3 EXON Missense_L212M exm1207498 16 2374406 [A/G] NM_001089 ABCA3 EXON Missense_A149V exm1207501 16 2374434 [T/G] NM_001089 ABCA3 EXON Missense_N140H exm1207505 16 2374467 [T/C] NM_001089 ABCA3 EXON Missense_V129M exm1207509 16 2374481 [T/C] NM_001089 ABCA3 EXON Missense_N124S exm1207510 16 2374485 [T/C] NM_001089 ABCA3 EXON Missense_D123N exm1207526 16 2376170 [T/C] NM_001089 ABCA3 EXON Missense_A54T exm1207530 16 2376272 [A/G] NM_001089 ABCA3 EXON Missense_R20W exm1207533 16 2376463 [T/G] NM_001089 ABCA3 EXON Missense_A2D exm2272415 16 2383268 [T/G] NM_001089 ABCA3 Silent exm1207557 16 2481277 [A/G] NM_001761 CCNF EXON Missense_V55I exm1207559 16 2483047 [A/G] NM_001761 CCNF EXON Missense_G86E exm1207560 16 2483065 [A/C] NM_001761 CCNF EXON Missense_E92A exm1207573 16 2487201 [T/C] NM_001761 CCNF EXON Missense_R140W exm1207575 16 2487210 [A/G] NM_001761 CCNF EXON Missense_V143M exm1207590 16 2489766 [A/G] NM_001761 CCNF EXON Missense_R239Q exm1207602 16 2495482 [T/G] NM_001761 CCNF EXON Missense_V318G exm1207604 16 2495509 [A/C] NM_001761 CCNF EXON Missense_T327K exm1207608 16 2495551 [A/T] NM_001761 CCNF EXON Missense_Y341F exm1207622 16 2498949 [T/G] NM_001761 CCNF EXON Missense_E396D exm1207624 16 2498978 [A/G] NM_001761 CCNF EXON Missense_R406Q exm1207648 16 2503516 [A/C] NM_001761 CCNF EXON Missense_P565T exm1207657 16 2505490 [T/A] NM_001761 CCNF EXON Missense_F604I exm1207670 16 2506732 [A/G] NM_001761 CCNF EXON Missense_R691Q exm1207679 16 2506800 [A/G] NM_001761 CCNF EXON Missense_V714M exm1207687 16 2506912 [A/G] NM_001761 CCNF EXON Missense_R751H exm1207688 16 2506918 [G/C] NM_001761 CCNF EXON Missense_P753R exm1207718 16 2511047 [T/C] NM_025108 C16orf59 EXON Missense_R143C exm1852700 16 2511194 [A/G] NM_025108 C16orf59 EXON Missense_A192T exm1207738 16 2512504 [A/G] NM_025108 C16orf59 EXON Missense_R280H exm1207746 16 2512728 [A/G] NM_025108 C16orf59 EXON Missense_R320H exm1207774 16 2514595 [T/C] NM_025108 C16orf59 EXON Missense_R410W exm1207776 16 2514631 [T/C] NM_025108 C16orf59 EXON Missense_R422C exm1207777 16 2514649 [T/C] NM_025108 C16orf59 EXON Missense_R428W exm1207788 16 2522081 [C/G] NM_006181 NTN3 EXON Missense_A127P exm1207792 16 2522099 [A/G] NM_006181 NTN3 EXON Missense_A133T exm1207800 16 2522364 [A/G] NM_006181 NTN3 EXON Missense_R221H exm1207806 16 2522432 [T/G] NM_006181 NTN3 EXON Missense_Y244D exm1207821 16 2522729 [A/G] NM_006181 NTN3 EXON Missense_R319H exm1207826 16 2522819 [A/C] NM_006181 NTN3 EXON Missense_H349P exm1207828 16 2522849 [A/G] NM_006181 NTN3 EXON Missense_R359Q exm1207829 16 2522861 [A/G] NM_006181 NTN3 EXON Missense_R363H exm1207841 16 2523111 [T/C] NM_006181 NTN3 EXON Missense_R415C exm1207842 16 2523274 [T/C] NM_006181 NTN3 EXON Missense_P425S exm1207848 16 2523493 [A/G] NM_006181 NTN3 EXON Missense_K461R exm1207863 16 2546171 [T/C] NM_020705,NM_001199107 TBC1D24,TBC1D24 EXON Missense_C8R,Missense_C8R exm1207865 16 2546207 [T/C] NM_020705,NM_001199107 TBC1D24,TBC1D24 EXON Nonsense_Q20X,Nonsense_Q20X exm1207873 16 2546318 [T/C] NM_020705,NM_001199107 TBC1D24,TBC1D24 EXON Missense_R57C,Missense_R57C exm1207875 16 2546328 [A/G] NM_020705,NM_001199107 TBC1D24,TBC1D24 EXON Missense_R60Q,Missense_R60Q exm1207886 16 2546493 [A/G] NM_020705,NM_001199107 TBC1D24,TBC1D24 EXON Missense_R115H,Missense_R115H exm1207893 16 2546642 [A/G] NM_020705,NM_001199107 TBC1D24,TBC1D24 EXON Missense_G165S,Missense_G165S exm1207896 16 2546790 [A/G] NM_020705,NM_001199107 TBC1D24,TBC1D24 EXON Missense_R214H,Missense_R214H exm1207901 16 2546934 [T/C] NM_020705,NM_001199107 TBC1D24,TBC1D24 EXON Missense_S262L,Missense_S262L exm1207906 16 2547027 [A/G] NM_020705,NM_001199107 TBC1D24,TBC1D24 EXON Missense_R293H,Missense_R293H exm1207907 16 2547034 [C/G] NM_020705,NM_001199107 TBC1D24,TBC1D24 EXON Missense_F295L,Missense_F295L exm1207918 16 2549411 [T/C] NM_020705,NM_001199107 TBC1D24,TBC1D24 EXON Missense_T393M,Missense_T399M exm1852869 16 2550849 [T/C] NM_020705,NM_001199107 TBC1D24,TBC1D24 EXON Missense_R518W,Missense_R524W exm1207949 16 2550921 [A/G] NM_020705,NM_001199107 TBC1D24,TBC1D24 EXON Missense_V542M,Missense_V548M exm1208012 16 2578094 [A/G] NM_015944,NM_001145815 AMDHD2,AMDHD2 EXON Missense_D221G,Missense_D221G exm1208021 16 2578297 [T/C] NM_015944,NM_001145815 AMDHD2,AMDHD2 EXON Missense_R260C,Missense_R260C exm1208056 16 2580282 [A/G] NM_001145815,NM_001048212 AMDHD2,CEMP1 EXON Missense_D436G,Silent exm1208061 16 2580428 [T/C] NM_001145815,NM_001048212 AMDHD2,CEMP1 EXON Nonsense_R485X,Missense_R216Q exm1208069 16 2580531 [G/C] NM_001145815,NM_001048212 AMDHD2,CEMP1 EXON Missense_T519S,Missense_V182L exm1208076 16 2580685 [T/G] NM_001145815,NM_001048212 AMDHD2,CEMP1 EXON Missense_D570E,Synonymous_L130L exm1208080 16 2580755 [C/G] NM_001145815,NM_001048212 AMDHD2,CEMP1 EXON Missense_A594P,Missense_A107G exm1208087 16 2580836 [T/C] NM_001145815,NM_001048212 AMDHD2,CEMP1 EXON Silent,Missense_R80H exm1208098 16 2580996 [T/G] NM_001048212 CEMP1 EXON Missense_T27P exm1208101 16 2581022 [A/G] NM_001048212 CEMP1 EXON Missense_T18I exm1208139 16 2636755 [A/G] NM_002613,NM_031268,NM_001261816 PDPK1,PDPK1,PDPK1 EXON Missense_T402A,Missense_T275A,Missense_T402A exm1208140 16 2636756 [T/C] NM_002613,NM_031268,NM_001261816 PDPK1,PDPK1,PDPK1 EXON Missense_T402M,Missense_T275M,Missense_T402M exm1208146 16 2636869 [T/G] NM_002613,NM_031268,NM_001261816 PDPK1,PDPK1,PDPK1 EXON Nonsense_E440X,Nonsense_E313X,Nonsense_E440X exm1208245 16 2752354 [T/C] NM_018992 KCTD5 EXON Synonymous_L184L exm1208253 16 2762632 [T/C] NM_031948 PRSS27 EXON Missense_G288S exm1208256 16 2762674 [A/G] NM_031948 PRSS27 EXON Missense_R274W exm1208268 16 2763556 [T/C] NM_031948 PRSS27 EXON Missense_E218K exm1853352 16 2763649 [T/C] NM_031948 PRSS27 EXON Missense_D187N exm2252533 16 2763683 [T/C] NM_031948 PRSS27 EXON Synonymous_P175P exm1208287 16 2764201 [T/C] NM_031948 PRSS27 EXON Missense_V125M exm1208293 16 2764257 [T/C] NM_031948 PRSS27 EXON Missense_R106Q exm1208295 16 2764269 [A/G] NM_031948 PRSS27 EXON Missense_A102V exm1208298 16 2764281 [A/G] NM_031948 PRSS27 EXON Missense_P98L exm1208312 16 2766526 [T/C] NM_031948 PRSS27 EXON Synonymous_G16G exm1208371 16 2807922 [T/C] NM_016333 SRRM2 EXON Missense_A164V exm1853513 16 2808478 [T/C] NM_016333 SRRM2 EXON Missense_R175W exm1208389 16 2809402 [T/C] NM_016333 SRRM2 EXON Missense_R247W exm1208397 16 2809646 [A/G] NM_016333 SRRM2 EXON Missense_D273N exm2274803 16 2810336 [A/G] NM_016333 SRRM2 EXON Missense_A290T exm1853524 16 2810439 [T/C] NM_016333 SRRM2 EXON Missense_P324L exm1208408 16 2810454 [A/G] NM_016333 SRRM2 EXON Missense_K329R exm1208409 16 2810459 [T/C] NM_016333 SRRM2 EXON Missense_P331S exm1208411 16 2810469 [T/C] NM_016333 SRRM2 EXON Missense_P334L exm1853525 16 2810480 [A/G] NM_016333 SRRM2 EXON Missense_K338E exm1208422 16 2811712 [T/C] NM_016333 SRRM2 EXON Missense_S395P exm1208424 16 2811724 [T/C] NM_016333 SRRM2 EXON Missense_P399S exm1208433 16 2811934 [T/C] NM_016333 SRRM2 EXON Missense_R469W exm1853554 16 2811962 [T/C] NM_016333 SRRM2 EXON Missense_S478F exm1208440 16 2811997 [A/G] NM_016333 SRRM2 EXON Missense_A490T exm1853557 16 2812138 [T/C] NM_016333 SRRM2 EXON Missense_P537S exm1208466 16 2812334 [A/G] NM_016333 SRRM2 EXON Missense_R602H exm1208470 16 2812360 [T/C] NM_016333 SRRM2 EXON Missense_R611W exm1208493 16 2812573 [T/C] NM_016333 SRRM2 EXON Missense_R682C exm1208494 16 2812574 [A/G] NM_016333 SRRM2 EXON Missense_R682H exm1208499 16 2812644 [A/C] NM_016333 SRRM2 EXON Missense_R705S exm1208508 16 2812749 [A/C] NM_016333 SRRM2 EXON Missense_R740S exm1208527 16 2812939 [A/C] NM_016333 SRRM2 EXON Missense_P804T exm1208533 16 2813030 [T/G] NM_016333 SRRM2 EXON Missense_S834I exm1208545 16 2813177 [C/G] NM_016333 SRRM2 EXON Missense_S883C exm1208561 16 2813330 [T/C] NM_016333 SRRM2 EXON Missense_S934F exm1208580 16 2813543 [T/C] NM_016333 SRRM2 EXON Missense_P1005L exm1208588 16 2813668 [A/G] NM_016333 SRRM2 EXON Missense_E1047K exm1208593 16 2813732 [G/C] NM_016333 SRRM2 EXON Missense_R1068T exm1208600 16 2813797 [T/C] NM_016333 SRRM2 EXON Missense_S1090P exm1208612 16 2813957 [T/C] NM_016333 SRRM2 EXON Missense_S1143F exm1853600 16 2814074 [T/G] NM_016333 SRRM2 EXON Missense_R1182I exm1208626 16 2814281 [A/G] NM_016333 SRRM2 EXON Missense_Q1251R exm1208634 16 2814403 [T/G] NM_016333 SRRM2 EXON Missense_S1292A exm1853606 16 2814461 [T/C] NM_016333 SRRM2 EXON Missense_S1311F exm1208638 16 2814470 [T/A] NM_016333 SRRM2 EXON Missense_H1314L exm1208646 16 2814640 [A/G] NM_016333 SRRM2 EXON Missense_M1371V exm1208668 16 2814911 [T/G] NM_016333 SRRM2 EXON Missense_G1461V exm1208671 16 2814940 [A/G] NM_016333 SRRM2 EXON Missense_R1471G exm1208672 16 2814950 [T/C] NM_016333 SRRM2 EXON Missense_S1474F exm2277091 16 2815310 [C/G] NM_016333 SRRM2 EXON Missense_R1594P exm1208691 16 2815313 [A/G] NM_016333 SRRM2 EXON Missense_R1595H exm1208697 16 2815418 [A/G] NM_016333 SRRM2 EXON Missense_R1630Q exm1208698 16 2815433 [A/G] NM_016333 SRRM2 EXON Missense_R1635Q exm1208706 16 2815547 [A/G] NM_016333 SRRM2 EXON Missense_R1673K exm1208724 16 2815765 [T/C] NM_016333 SRRM2 EXON Missense_R1746C exm1208727 16 2815796 [T/C] NM_016333 SRRM2 EXON Missense_T1756I exm1208729 16 2815816 [C/G] NM_016333 SRRM2 EXON Missense_P1763A exm1208730 16 2815822 [T/C] NM_016333 SRRM2 EXON Missense_P1765S exm1208735 16 2815888 [T/C] NM_016333 SRRM2 EXON Missense_R1787C exm1208740 16 2815952 [T/C] NM_016333 SRRM2 EXON Missense_S1808L exm1208745 16 2815975 [A/G] NM_016333 SRRM2 EXON Missense_G1816R exm1208761 16 2816185 [T/C] NM_016333 SRRM2 EXON Missense_R1886C exm1208783 16 2816519 [A/G] NM_016333 SRRM2 EXON Missense_R1997H exm1208799 16 2816663 [A/G] NM_016333 SRRM2 EXON Missense_R2045H exm1208802 16 2816683 [T/C] NM_016333 SRRM2 EXON Missense_R2052C exm1853648 16 2816686 [T/C] NM_016333 SRRM2 EXON Missense_R2053C exm1208805 16 2816708 [A/G] NM_016333 SRRM2 EXON Missense_R2060Q exm1208810 16 2816788 [T/C] NM_016333 SRRM2 EXON Missense_R2087C exm1208816 16 2816861 [A/G] NM_016333 SRRM2 EXON Missense_S2111N exm1208818 16 2816885 [A/G] NM_016333 SRRM2 EXON Missense_R2119H exm1208826 16 2817119 [T/C] NM_016333 SRRM2 EXON Missense_P2197L exm1208849 16 2817499 [T/C] NM_016333 SRRM2 EXON Missense_P2324S exm1208852 16 2817506 [A/G] NM_016333 SRRM2 EXON Missense_S2326N exm1208857 16 2817568 [A/G] NM_016333 SRRM2 EXON Missense_T2347A exm1208859 16 2817599 [A/C] NM_016333 SRRM2 EXON Missense_T2357N exm1208883 16 2817983 [T/C] NM_016333 SRRM2 EXON Missense_S2485F exm2224568 16 2818061 [G/C] NM_016333 SRRM2 EXON Missense_A2511G exm1208893 16 2818066 [A/G] NM_016333 SRRM2 EXON Missense_T2513A exm1208902 16 2818160 [T/C] NM_016333 SRRM2 EXON Missense_S2544F exm1208915 16 2818229 [A/G] NM_016333 SRRM2 EXON Missense_S2567N exm1208916 16 2818235 [T/C] NM_016333 SRRM2 EXON Missense_P2569L exm1208917 16 2819051 [T/C] NM_016333 SRRM2 EXON Missense_P2596L exm1208950 16 2820357 [T/C] NM_016333 SRRM2 EXON Missense_R2676C exm1208955 16 2820429 [T/C] NM_016333 SRRM2 EXON Missense_R2700C exm1208956 16 2820436 [T/C] NM_016333 SRRM2 EXON Missense_S2702L exm1208960 16 2820460 [A/G] NM_016333 SRRM2 EXON Missense_Q2710R exm1208970 16 2820684 [T/C] NM_016333 SRRM2 EXON Missense_P2739S exm1208981 16 2821486 [T/C] NM_207013,NM_007108 TCEB2,TCEB2 EXON Missense_R158H,Silent exm1208982 16 2821487 [A/G] NM_207013,NM_007108 TCEB2,TCEB2 EXON Missense_R158C,Silent exm1208984 16 2821525 [A/G] NM_207013,NM_007108 TCEB2,TCEB2 EXON Missense_T145M,Silent exm1208986 16 2821573 [T/C] NM_207013,NM_007108 TCEB2,TCEB2 EXON Missense_S129N,Silent exm1208988 16 2821586 [T/C] NM_207013,NM_007108 TCEB2,TCEB2 EXON Missense_T125A,Silent exm1208989 16 2821589 [T/G] NM_207013,NM_007108 TCEB2,TCEB2 EXON Missense_Q124K,Silent exm1853715 16 2821598 [A/C] NM_207013,NM_007108 TCEB2,TCEB2 EXON Missense_V121F,Silent exm1209014 16 2834656 [T/C] NM_152891 PRSS33 EXON Missense_V278I exm1209044 16 2835893 [A/C] NM_152891 PRSS33 EXON Missense_W50L exm1209061 16 2848610 [A/G] NM_001135086 PRSS41 EXON Missense_R42H exm1209062 16 2848986 [T/G] NM_001135086 PRSS41 EXON Missense_A53S exm1209067 16 2849409 [T/C] NM_001135086 PRSS41 EXON Missense_A140V exm1209068 16 2849411 [G/C] NM_001135086 PRSS41 EXON Missense_L141V exm1209071 16 2849468 [A/G] NM_001135086 PRSS41 EXON Missense_N160D exm1209073 16 2849496 [A/G] NM_001135086 PRSS41 EXON Missense_E169G exm1209080 16 2854494 [T/C] NM_001135086 PRSS41 EXON Missense_W229R exm1209081 16 2854507 [T/G] NM_001135086 PRSS41 EXON Missense_F233C exm1209118 16 2868781 [A/G] NM_001270452,NM_006799,NM_144956,NM_144957,NR_073012 PRSS21,PRSS21,PRSS21,PRSS21,PRSS21 EXON Missense_V119I,Missense_V121I,Missense_V119I,Missense_V121I,Silent exm1209121 16 2868818 [A/G] NM_001270452,NM_006799,NM_144956,NM_144957,NR_073012 PRSS21,PRSS21,PRSS21,PRSS21,PRSS21 EXON Missense_N131S,Missense_N133S,Missense_N131S,Missense_N133S,Silent exm1209128 16 2870961 [T/C] NM_001270452,NM_006799,NM_144956,NM_144957,NR_073012 PRSS21,PRSS21,PRSS21,PRSS21,PRSS21 EXON Silent,Missense_P186S,Missense_P184S,Missense_P186S,Silent exm1209132 16 2871103 [A/C] NM_001270452,NM_006799,NM_144956,NM_144957,NR_073012 PRSS21,PRSS21,PRSS21,PRSS21,PRSS21 EXON Nonsense_C222X,Missense_A233D,Missense_A231D,Silent,Silent exm1209133 16 2871111 [A/G] NM_001270452,NM_006799,NM_144956,NM_144957,NR_073012 PRSS21,PRSS21,PRSS21,PRSS21,PRSS21 Silent,Silent,Silent,Silent,Silent exm1209140 16 2871452 [A/G] NM_001270452,NM_006799,NM_144956,NM_144957,NR_073012 PRSS21,PRSS21,PRSS21,PRSS21,PRSS21 EXON Silent,Missense_R264Q,Missense_R262Q,Missense_R250Q,Silent exm1209144 16 2871538 [T/C] NM_001270452,NM_006799,NM_144956,NM_144957,NR_073012 PRSS21,PRSS21,PRSS21,PRSS21,PRSS21 EXON Silent,Missense_P293S,Missense_P291S,Missense_P279S,Silent exm1209153 16 2880300 [A/G] NM_145252 ZG16B EXON Missense_G18S exm1209170 16 2881906 [A/G] NM_145252 ZG16B EXON Missense_A125T exm1209172 16 2881930 [A/G] NM_145252 ZG16B EXON Missense_M133V exm1209173 16 2881931 [T/C] NM_145252 ZG16B EXON Missense_M133T exm1209182 16 2882149 [A/G] NM_145252 ZG16B EXON Missense_V206M exm1209210 16 2903942 [T/C] NM_022119 PRSS22 EXON Missense_R214Q exm1209211 16 2903944 [G/C] NM_022119 PRSS22 EXON Missense_W213C exm1854343 16 2905689 [A/G] NM_022119 PRSS22 EXON Missense_R149C exm1209225 16 2905784 [T/C] NM_022119 PRSS22 EXON Missense_R117Q exm2252542 16 2906205 [C/G] NM_022119 PRSS22 EXON Synonymous_G53G exm1209271 16 2949122 [T/G] NM_001142499,NM_138439,NM_001142500 FLYWCH2,FLYWCH2,FLYWCH2 EXON Missense_C132F,Missense_C132F,Missense_C132F exm1209297 16 2979945 [T/G] NM_032296,NM_020912 FLYWCH1,FLYWCH1 EXON Nonsense_E87X,Nonsense_E87X exm1854471 16 2979984 [A/G] NM_032296,NM_020912 FLYWCH1,FLYWCH1 EXON Missense_E100K,Missense_E100K exm1209299 16 2980006 [A/G] NM_032296,NM_020912 FLYWCH1,FLYWCH1 EXON Missense_D107G,Missense_D107G exm1209328 16 2980828 [A/G] NM_032296,NM_020912 FLYWCH1,FLYWCH1 EXON Missense_R247Q,Missense_R247Q exm2272334 16 2982708 [T/G] NM_032296,NM_020912 FLYWCH1,FLYWCH1 Silent,Silent exm1209335 16 2983159 [T/G] NM_032296,NM_020912 FLYWCH1,FLYWCH1 EXON Missense_R274S,Missense_R274S exm1209341 16 2983244 [T/G] NM_032296,NM_020912 FLYWCH1,FLYWCH1 EXON Missense_C303G,Missense_C303G exm1854609 16 2983299 [A/G] NM_032296,NM_020912 FLYWCH1,FLYWCH1 EXON Missense_R321Q,Missense_R321Q exm1209353 16 2983339 [A/G] NM_032296,NM_020912 FLYWCH1,FLYWCH1 EXON Missense_M334I,Missense_M334I exm1209359 16 2983403 [A/G] NM_032296,NM_020912 FLYWCH1,FLYWCH1 EXON Missense_G356S,Missense_G356S exm1209374 16 2983494 [A/G] NM_032296,NM_020912 FLYWCH1,FLYWCH1 EXON Missense_R386Q,Missense_R386Q exm1209404 16 2983855 [A/G] NM_032296,NM_020912 FLYWCH1,FLYWCH1 EXON Missense_R462H,Missense_R462H exm2224616 16 2988194 [A/G] NM_032296,NM_020912 FLYWCH1,FLYWCH1 EXON Missense_R595Q,Missense_R595Q exm1209457 16 2988334 [A/G] NM_032296,NM_020912 FLYWCH1,FLYWCH1 EXON Missense_A642T,Missense_A642T exm1209468 16 2990062 [A/T] NM_032296,NM_020912 FLYWCH1,FLYWCH1 EXON Missense_T693S,Missense_T693S exm1209488 16 3014990 [A/C] NM_001253726,NM_024507,NM_001253725,NM_172229 KREMEN2,KREMEN2,KREMEN2,KREMEN2 EXON Missense_S75R,Missense_S75R,Missense_S75R,Missense_S75R exm1209489 16 3014999 [C/G] NM_001253726,NM_024507,NM_001253725,NM_172229 KREMEN2,KREMEN2,KREMEN2,KREMEN2 EXON Missense_H78Q,Missense_H78Q,Missense_H78Q,Missense_H78Q exm1209490 16 3016151 [A/G] NM_001253726,NM_024507,NM_001253725,NM_172229 KREMEN2,KREMEN2,KREMEN2,KREMEN2 EXON Missense_G94S,Missense_G94S,Missense_G94S,Missense_G94S exm1209527 16 3017949 [T/A] NM_001253726,NM_024507,NM_001253725,NM_172229 KREMEN2,KREMEN2,KREMEN2,KREMEN2 EXON Synonymous_G400G,Missense_V413D,Missense_V374D,Synonymous_G439G exm1855108 16 3017966 [A/G] NM_001253726,NM_024507,NM_001253725,NM_172229 KREMEN2,KREMEN2,KREMEN2,KREMEN2 EXON Missense_R406Q,Missense_G419S,Missense_G380S,Missense_R445Q exm1209529 16 3017970 [T/C] NM_001253726,NM_024507,NM_001253725,NM_172229 KREMEN2,KREMEN2,KREMEN2,KREMEN2 EXON Synonymous_P407P,Missense_L420P,Missense_L381P,Synonymous_P446P exm1209546 16 3021200 [T/C] NM_152341 PAQR4 EXON Missense_M70T exm1209552 16 3021328 [A/G] NM_152341 PAQR4 EXON Missense_A113T exm1209566 16 3021651 [A/G] NM_152341 PAQR4 EXON Missense_R175Q exm1209576 16 3021758 [A/G] NM_152341 PAQR4 EXON Missense_A211T exm1209577 16 3021794 [T/C] NM_152341 PAQR4 EXON Missense_R223C exm1855152 16 3021806 [T/C] NM_152341 PAQR4 EXON Missense_R227C exm1209595 16 3022997 [T/C] NM_152341,NM_182687,NM_001258450,NM_004203,NM_001258451 PAQR4,PKMYT1,PKMYT1,PKMYT1,PKMYT1 EXON Silent,Silent,Missense_R417Q,Missense_R486Q,Missense_R477Q exm1209597 16 3023024 [T/C] NM_152341,NM_182687,NM_001258450,NM_004203,NM_001258451 PAQR4,PKMYT1,PKMYT1,PKMYT1,PKMYT1 EXON Silent,Silent,Missense_R408Q,Missense_R477Q,Missense_R468Q exm-rs886427 16 3023605 [A/G] NM_182687,NM_001258450,NM_004203,NM_001258451 PKMYT1,PKMYT1,PKMYT1,PKMYT1 Silent,Silent,Silent,Silent exm1209606 16 3024001 [T/C] NM_182687,NM_001258450,NM_004203,NM_001258451 PKMYT1,PKMYT1,PKMYT1,PKMYT1 EXON Missense_G437D,Missense_G368E,Missense_G437E,Missense_G428E exm1855161 16 3024015 [A/C] NM_182687,NM_001258450,NM_004203,NM_001258451 PKMYT1,PKMYT1,PKMYT1,PKMYT1 EXON Missense_D432E,Missense_D363E,Missense_D432E,Missense_D423E exm1209622 16 3024347 [T/C] NM_182687,NM_001258450,NM_004203,NM_001258451 PKMYT1,PKMYT1,PKMYT1,PKMYT1 EXON Missense_E351K,Missense_E282K,Missense_E351K,Missense_E342K exm2274804 16 3024565 [A/G] NM_182687,NM_001258450,NM_004203,NM_001258451 PKMYT1,PKMYT1,PKMYT1,PKMYT1 EXON Missense_P322L,Missense_P253L,Missense_P322L,Missense_P313L exm1209638 16 3025421 [A/C] NM_182687,NM_001258450,NM_004203,NM_001258451 PKMYT1,PKMYT1,PKMYT1,PKMYT1 EXON Missense_E257D,Missense_E188D,Missense_E257D,Missense_E248D exm1209659 16 3025740 [T/C] NM_182687,NM_001258450,NM_004203,NM_001258451 PKMYT1,PKMYT1,PKMYT1,PKMYT1 EXON Missense_R151Q,Missense_R82Q,Missense_R151Q,Missense_R142Q exm2224640 16 3025774 [A/G] NM_182687,NM_001258450,NM_004203,NM_001258451 PKMYT1,PKMYT1,PKMYT1,PKMYT1 EXON Missense_R140C,Missense_R71C,Missense_R140C,Missense_R131C exm1855183 16 3026802 [A/G] NM_182687,NM_001258450,NM_004203,NM_001258451 PKMYT1,PKMYT1,PKMYT1,PKMYT1 EXON Missense_R81W,Missense_R12W,Missense_R81W,Missense_R72W exm1209675 16 3026859 [A/G] NM_182687,NM_001258450,NM_004203,NM_001258451 PKMYT1,PKMYT1,PKMYT1,PKMYT1 EXON Missense_P62S,Silent,Missense_P62S,Missense_P53S exm1209682 16 3026985 [A/G] NM_182687,NM_001258450,NM_004203,NM_001258451 PKMYT1,PKMYT1,PKMYT1,PKMYT1 EXON Missense_P20S,Silent,Missense_P20S,Missense_P11S exm1855475 16 3063619 [A/G] NM_020982 CLDN9 EXON Missense_I86V exm1855476 16 3063683 [T/G] NM_020982 CLDN9 EXON Missense_C107F exm1209717 16 3063709 [T/C] NM_020982 CLDN9 EXON Missense_R116C exm1209748 16 3065365 [T/C] NM_021195 CLDN6 EXON Missense_V220I exm1209752 16 3065397 [T/C] NM_021195 CLDN6 EXON Missense_R209Q exm1209805 16 3071246 [A/G] NM_016639 TNFRSF12A EXON Nonsense_W42X exm1209823 16 3072916 [T/G] NM_001002018,NM_017885,NM_001002017 HCFC1R1,HCFC1R1,HCFC1R1 EXON Missense_T122N,Missense_T122N,Missense_T103N exm1209828 16 3073240 [T/G] NM_001002018,NM_017885,NM_001002017 HCFC1R1,HCFC1R1,HCFC1R1 EXON Missense_P92Q,Missense_P92Q,Missense_P73Q exm1209833 16 3073357 [A/G] NM_001002018,NM_017885,NM_001002017 HCFC1R1,HCFC1R1,HCFC1R1 EXON Missense_P53L,Missense_P53L,Missense_P34L exm1209855 16 3076141 [T/A] NM_001142350,NM_024339 THOC6,THOC6 EXON Missense_W100R,Missense_W100R exm1209857 16 3076256 [A/G] NM_001142350,NM_024339 THOC6,THOC6 EXON Missense_C110Y,Missense_C110Y exm1855752 16 3076270 [T/C] NM_001142350,NM_024339 THOC6,THOC6 EXON Missense_R115C,Missense_R115C exm1209858 16 3076271 [A/G] NM_001142350,NM_024339 THOC6,THOC6 EXON Missense_R115H,Missense_R115H exm1855753 16 3076274 [A/G] NM_001142350,NM_024339 THOC6,THOC6 EXON Missense_R116H,Missense_R116H exm1209867 16 3076587 [T/C] NM_001142350,NM_024339 THOC6,THOC6 EXON Missense_T161M,Missense_T161M exm1209880 16 3076895 [T/C] NM_001142350,NM_024339 THOC6,THOC6 EXON Missense_T205M,Missense_T205M exm1855780 16 3077030 [A/C] NM_001142350,NM_024339 THOC6,THOC6 EXON Missense_N219H,Missense_N219H exm1209893 16 3077171 [G/C] NM_001142350,NM_024339 THOC6,THOC6 EXON Missense_V234L,Missense_V234L exm1209898 16 3077380 [A/G] NM_001142350,NM_024339 THOC6,THOC6 EXON Silent,Missense_G275D exm1209900 16 3077388 [T/C] NM_001142350,NM_024339 THOC6,THOC6 EXON Silent,Missense_R278C exm1209907 16 3077487 [A/G] NM_001142350,NM_024339 THOC6,THOC6 EXON Silent,Missense_A311T exm1209916 16 3078151 [T/C] NM_001103175 CCDC64B EXON Missense_G495R exm1209960 16 3080719 [T/C] NM_001103175 CCDC64B EXON Missense_R198Q exm1209967 16 3080959 [A/G] NM_001103175 CCDC64B EXON Missense_R159W exm1209968 16 3080989 [A/C] NM_001103175 CCDC64B EXON Missense_A149S exm1209969 16 3080997 [T/C] NM_001103175 CCDC64B EXON Missense_R146Q exm1209971 16 3081004 [A/G] NM_001103175 CCDC64B EXON Nonsense_R144X exm1209972 16 3081048 [T/C] NM_001103175 CCDC64B EXON Missense_R129Q exm1210005 16 3100034 [A/G] NM_022468 MMP25 EXON Missense_R86H exm1210011 16 3100088 [A/G] NM_022468 MMP25 EXON Missense_R104Q exm1210017 16 3100109 [A/G] NM_022468 MMP25 EXON Missense_S111N exm1210031 16 3100388 [C/G] NM_022468 MMP25 EXON Missense_P168A exm1210036 16 3100427 [T/G] NM_022468 MMP25 EXON Missense_D181Y exm1210038 16 3100485 [A/G] NM_022468 MMP25 EXON Missense_E200G exm1210042 16 3107035 [T/C] NM_022468 MMP25 EXON Synonymous_D221D exm1210043 16 3107037 [T/G] NM_022468 MMP25 EXON Missense_G222V exm1210044 16 3107048 [A/G] NM_022468 MMP25 EXON Missense_D226N exm1210045 16 3107055 [T/C] NM_022468 MMP25 EXON Missense_F228S exm1210076 16 3108302 [A/G] NM_022468 MMP25 EXON Missense_R376Q exm1210095 16 3108900 [A/C] NM_022468 MMP25 EXON Missense_A497D exm1210100 16 3108984 [G/C] NM_022468 MMP25 EXON Missense_P525R exm1856390 16 3117378 [A/G] NM_001012631,NM_001012718,NM_004221,NM_001012633,NM_001012635,NM_001012634,NM_001012632,NM_001012636 IL32,IL32,IL32,IL32,IL32,IL32,IL32,IL32 EXON Missense_V6I,Missense_V6I,Missense_V6I,Missense_V6I,Missense_V6I,Missense_V6I,Missense_V6I,Missense_V6I exm1210129 16 3117577 [A/G] NM_001012631,NM_001012718,NM_004221,NM_001012633,NM_001012635,NM_001012634,NM_001012632,NM_001012636 IL32,IL32,IL32,IL32,IL32,IL32,IL32,IL32 EXON Missense_Y26C,Missense_Y26C,Missense_Y26C,Missense_Y26C,Silent,Silent,Missense_Y26C,Missense_Y26C exm1210131 16 3117607 [A/G] NM_001012631,NM_001012718,NM_004221,NM_001012633,NM_001012635,NM_001012634,NM_001012632,NM_001012636 IL32,IL32,IL32,IL32,IL32,IL32,IL32,IL32 EXON Missense_R36H,Missense_R36H,Missense_R36H,Missense_R36H,Silent,Silent,Missense_R36H,Missense_R36H exm1210158 16 3118239 [T/C] NM_001012631,NM_001012718,NM_004221,NM_001012633,NM_001012635,NM_001012634,NM_001012632,NM_001012636 IL32,IL32,IL32,IL32,IL32,IL32,IL32,IL32 EXON Missense_P67L,Missense_P67L,Missense_P67L,Missense_P67L,Missense_P47L,Missense_P47L,Missense_P67L,Missense_P58L exm1210159 16 3118240 [A/G] NM_001012631,NM_001012718,NM_004221,NM_001012633,NM_001012635,NM_001012634,NM_001012632,NM_001012636 IL32,IL32,IL32,IL32,IL32,IL32,IL32,IL32 EXON Synonymous_P67P,Synonymous_P67P,Synonymous_P67P,Synonymous_P67P,Synonymous_P47P,Synonymous_P47P,Synonymous_P67P,Synonymous_P58P exm1210171 16 3119247 [A/G] NM_001012631,NM_001012718,NM_004221,NM_001012633,NM_001012635,NM_001012634,NM_001012632,NM_001012636 IL32,IL32,IL32,IL32,IL32,IL32,IL32,IL32 EXON Missense_C153Y,Missense_C153Y,Missense_C153Y,Silent,Missense_C133Y,Missense_C133Y,Missense_C153Y,Missense_C144Y exm1210183 16 3119344 [A/C] NM_001012631,NM_001012718,NM_004221,NM_001012633,NM_001012635,NM_001012634,NM_001012632,NM_001012636 IL32,IL32,IL32,IL32,IL32,IL32,IL32,IL32 EXON Missense_Q185H,Missense_Q185H,Missense_Q185H,Missense_Q128H,Missense_Q165H,Missense_Q165H,Missense_Q185H,Missense_Q176H exm1210188 16 3139190 [A/C] NM_032805 ZSCAN10 EXON Missense_A694S exm1210200 16 3139448 [A/C] NM_032805 ZSCAN10 EXON Missense_A608S exm1210225 16 3139999 [T/G] NM_032805 ZSCAN10 EXON Missense_S424Y exm1856693 16 3140042 [T/C] NM_032805 ZSCAN10 EXON Missense_E410K exm1210236 16 3140276 [A/G] NM_032805 ZSCAN10 EXON Missense_R332C exm1210246 16 3140506 [T/C] NM_032805 ZSCAN10 EXON Missense_R255Q exm1210250 16 3140594 [T/C] NM_032805 ZSCAN10 EXON Missense_G226R exm1856701 16 3140599 [A/G] NM_032805 ZSCAN10 EXON Missense_P224L exm1210254 16 3140632 [T/G] NM_032805 ZSCAN10 EXON Missense_T213N exm1210256 16 3141540 [T/C] NM_032805 ZSCAN10 Silent exm1210269 16 3142097 [T/G] NM_032805 ZSCAN10 EXON Missense_P151Q exm1210275 16 3142181 [A/G] NM_032805 ZSCAN10 EXON Missense_S123L exm1210283 16 3142291 [A/C] NM_032805 ZSCAN10 EXON Missense_S86R exm1210309 16 3165390 [T/C] NR_024167,NR_024166,NM_001042428,NM_003456 ZNF205-AS1,ZNF205-AS1,ZNF205,ZNF205 EXON Silent,Silent,Missense_P31L,Missense_P31L exm1210311 16 3165407 [A/G] NR_024167,NR_024166,NM_001042428,NM_003456 ZNF205-AS1,ZNF205-AS1,ZNF205,ZNF205 EXON Silent,Silent,Missense_A37T,Missense_A37T exm2252566 16 3165457 [T/C] NR_024167,NR_024166,NM_001042428,NM_003456 ZNF205-AS1,ZNF205-AS1,ZNF205,ZNF205 EXON Silent,Silent,Synonymous_P53P,Synonymous_P53P exm2224744 16 3165458 [A/G] NR_024167,NR_024166,NM_001042428,NM_003456 ZNF205-AS1,ZNF205-AS1,ZNF205,ZNF205 EXON Silent,Silent,Missense_E54K,Missense_E54K exm1210320 16 3165518 [T/G] NR_024167,NR_024166,NM_001042428,NM_003456 ZNF205-AS1,ZNF205-AS1,ZNF205,ZNF205 EXON Silent,Silent,Missense_A74S,Missense_A74S exm1210327 16 3165845 [A/G] NM_001042428,NM_003456 ZNF205,ZNF205 EXON Missense_R96Q,Missense_R96Q exm2252567 16 3165900 [A/G] NM_001042428,NM_003456 ZNF205,ZNF205 EXON Synonymous_A114A,Synonymous_A114A exm1210337 16 3166467 [T/C] NM_001042428,NM_003456 ZNF205,ZNF205 EXON Missense_R135W,Missense_R135W exm1210341 16 3166547 [A/G] NM_001042428,NM_003456 ZNF205,ZNF205 EXON Synonymous_L161L,Synonymous_L161L exm1210398 16 3170210 [T/A] NM_001042428,NM_003456 ZNF205,ZNF205 EXON Missense_S517T,Missense_S517T exm2224745 16 3187398 [T/G] NM_004220,NM_001134655 ZNF213,ZNF213 EXON Missense_R39S,Missense_R39S exm1210416 16 3187472 [A/G] NM_004220,NM_001134655 ZNF213,ZNF213 EXON Missense_S64N,Missense_S64N exm1210456 16 3190941 [A/C] NM_004220,NM_001134655 ZNF213,ZNF213 EXON Missense_R325S,Missense_R325S exm1210457 16 3190950 [A/T] NM_004220,NM_001134655 ZNF213,ZNF213 EXON Missense_W328R,Missense_W328R exm1210458 16 3190952 [C/G] NM_004220,NM_001134655 ZNF213,ZNF213 EXON Missense_W328C,Missense_W328C exm1210483 16 3191331 [A/G] NM_004220,NM_001134655 ZNF213,ZNF213 EXON Missense_A455T,Missense_A455T exm1210492 16 3254280 [T/G] NM_012360 OR1F1 EXON Missense_F12V exm1210493 16 3254293 [A/G] NM_012360 OR1F1 EXON Missense_G16E exm1210502 16 3254418 [G/C] NM_012360 OR1F1 EXON Missense_P58A exm1210503 16 3254424 [T/C] NM_012360 OR1F1 EXON Missense_Y60H exm1210511 16 3254508 [A/G] NM_012360 OR1F1 EXON Missense_E88K exm1210513 16 3254556 [A/G] NM_012360 OR1F1 EXON Missense_V104I exm1210518 16 3254579 [G/C] NM_012360 OR1F1 EXON Missense_D111E exm1210520 16 3254611 [A/G] NM_012360 OR1F1 EXON Missense_H122R exm1210539 16 3254872 [A/C] NM_012360 OR1F1 EXON Missense_T209N exm1210547 16 3254964 [A/G] NM_012360 OR1F1 EXON Missense_T240A exm1210550 16 3254988 [G/C] NM_012360 OR1F1 EXON Missense_V248L exm1210553 16 3255012 [A/G] NM_012360 OR1F1 EXON Missense_I256V exm1210554 16 3255037 [A/C] NM_012360 OR1F1 EXON Missense_S264Y exm1210558 16 3255091 [T/C] NM_012360 OR1F1 EXON Missense_T282I exm2252570 16 3261955 [A/G] exm1210565 16 3273905 [T/C] NM_001145446,NM_001145447,NM_001145448,NM_003454,NM_198087,NM_198088 ZNF200,ZNF200,ZNF200,ZNF200,ZNF200,ZNF200 EXON Missense_R391Q,Missense_R391Q,Missense_R391Q,Missense_R392Q,Missense_R391Q,Missense_R392Q exm1210568 16 3273929 [T/C] NM_001145446,NM_001145447,NM_001145448,NM_003454,NM_198087,NM_198088 ZNF200,ZNF200,ZNF200,ZNF200,ZNF200,ZNF200 EXON Missense_K383R,Missense_K383R,Missense_K383R,Missense_K384R,Missense_K383R,Missense_K384R exm1210569 16 3273939 [A/G] NM_001145446,NM_001145447,NM_001145448,NM_003454,NM_198087,NM_198088 ZNF200,ZNF200,ZNF200,ZNF200,ZNF200,ZNF200 EXON Missense_R380W,Missense_R380W,Missense_R380W,Missense_R381W,Missense_R380W,Missense_R381W exm1210573 16 3274106 [T/C] NM_001145446,NM_001145447,NM_001145448,NM_003454,NM_198087,NM_198088 ZNF200,ZNF200,ZNF200,ZNF200,ZNF200,ZNF200 EXON Missense_R324H,Missense_R324H,Missense_R324H,Missense_R325H,Missense_R324H,Missense_R325H exm1210574 16 3274107 [A/G] NM_001145446,NM_001145447,NM_001145448,NM_003454,NM_198087,NM_198088 ZNF200,ZNF200,ZNF200,ZNF200,ZNF200,ZNF200 EXON Missense_R324C,Missense_R324C,Missense_R324C,Missense_R325C,Missense_R324C,Missense_R325C exm1210575 16 3274116 [A/G] NM_001145446,NM_001145447,NM_001145448,NM_003454,NM_198087,NM_198088 ZNF200,ZNF200,ZNF200,ZNF200,ZNF200,ZNF200 EXON Missense_H321Y,Missense_H321Y,Missense_H321Y,Missense_H322Y,Missense_H321Y,Missense_H322Y exm1210577 16 3274181 [T/C] NM_001145446,NM_001145447,NM_001145448,NM_003454,NM_198087,NM_198088 ZNF200,ZNF200,ZNF200,ZNF200,ZNF200,ZNF200 EXON Missense_R299Q,Missense_R299Q,Missense_R299Q,Missense_R300Q,Missense_R299Q,Missense_R300Q exm2274806 16 3274256 [A/G] NM_001145446,NM_001145447,NM_001145448,NM_003454,NM_198087,NM_198088 ZNF200,ZNF200,ZNF200,ZNF200,ZNF200,ZNF200 EXON Missense_T274I,Missense_T274I,Missense_T274I,Missense_T275I,Missense_T274I,Missense_T275I exm1210581 16 3274286 [T/G] NM_001145446,NM_001145447,NM_001145448,NM_003454,NM_198087,NM_198088 ZNF200,ZNF200,ZNF200,ZNF200,ZNF200,ZNF200 EXON Missense_S264Y,Missense_S264Y,Missense_S264Y,Missense_S265Y,Missense_S264Y,Missense_S265Y exm1210583 16 3274322 [C/G] NM_001145446,NM_001145447,NM_001145448,NM_003454,NM_198087,NM_198088 ZNF200,ZNF200,ZNF200,ZNF200,ZNF200,ZNF200 EXON Missense_T252S,Missense_T252S,Missense_T252S,Missense_T253S,Missense_T252S,Missense_T253S exm1857152 16 3274356 [A/G] NM_001145446,NM_001145447,NM_001145448,NM_003454,NM_198087,NM_198088 ZNF200,ZNF200,ZNF200,ZNF200,ZNF200,ZNF200 EXON Missense_L241F,Missense_L241F,Missense_L241F,Missense_L242F,Missense_L241F,Missense_L242F exm1210588 16 3274416 [T/C] NM_001145446,NM_001145447,NM_001145448,NM_003454,NM_198087,NM_198088 ZNF200,ZNF200,ZNF200,ZNF200,ZNF200,ZNF200 EXON Missense_I221V,Missense_I221V,Missense_I221V,Missense_I222V,Missense_I221V,Missense_I222V exm2224757 16 3274511 [A/G] NM_001145446,NM_001145447,NM_001145448,NM_003454,NM_198087,NM_198088 ZNF200,ZNF200,ZNF200,ZNF200,ZNF200,ZNF200 EXON Missense_S189F,Missense_S189F,Missense_S189F,Missense_S190F,Missense_S189F,Missense_S190F exm1210593 16 3274612 [T/C] NM_001145446,NM_001145447,NM_001145448,NM_003454,NM_198087,NM_198088 ZNF200,ZNF200,ZNF200,ZNF200,ZNF200,ZNF200 EXON Silent,Silent,Silent,Synonymous_A156A,Synonymous_A155A,Synonymous_A156A exm1210594 16 3282422 [A/C] NM_001145446,NM_001145447,NM_001145448,NM_003454,NM_198087,NM_198088 ZNF200,ZNF200,ZNF200,ZNF200,ZNF200,ZNF200 EXON Synonymous_L155L,Synonymous_L155L,Synonymous_L155L,Synonymous_L155L,Synonymous_L154L,Synonymous_L155L exm1210598 16 3282468 [A/G] NM_001145446,NM_001145447,NM_001145448,NM_003454,NM_198087,NM_198088 ZNF200,ZNF200,ZNF200,ZNF200,ZNF200,ZNF200 EXON Missense_T140M,Missense_T140M,Missense_T140M,Missense_T140M,Missense_T139M,Missense_T140M exm1210601 16 3282544 [C/G] NM_001145446,NM_001145447,NM_001145448,NM_003454,NM_198087,NM_198088 ZNF200,ZNF200,ZNF200,ZNF200,ZNF200,ZNF200 EXON Missense_L115V,Missense_L115V,Missense_L115V,Missense_L115V,Missense_L114V,Missense_L115V exm1210608 16 3283518 [A/G] NM_001145446,NM_001145447,NM_001145448,NM_003454,NM_198087,NM_198088 ZNF200,ZNF200,ZNF200,ZNF200,ZNF200,ZNF200 EXON Missense_L80F,Missense_L80F,Missense_L80F,Missense_L80F,Missense_L80F,Missense_L80F exm1857174 16 3283542 [T/C] NM_001145446,NM_001145447,NM_001145448,NM_003454,NM_198087,NM_198088 ZNF200,ZNF200,ZNF200,ZNF200,ZNF200,ZNF200 EXON Missense_I72V,Missense_I72V,Missense_I72V,Missense_I72V,Missense_I72V,Missense_I72V exm1210621 16 3283691 [A/G] NM_001145446,NM_001145447,NM_001145448,NM_003454,NM_198087,NM_198088 ZNF200,ZNF200,ZNF200,ZNF200,ZNF200,ZNF200 EXON Missense_P22L,Missense_P22L,Missense_P22L,Missense_P22L,Missense_P22L,Missense_P22L exm1210624 16 3283753 [T/C] NM_001145446,NM_001145447,NM_001145448,NM_003454,NM_198087,NM_198088 ZNF200,ZNF200,ZNF200,ZNF200,ZNF200,ZNF200 EXON Missense_M1I,Missense_M1I,Missense_M1I,Missense_M1I,Missense_M1I,Missense_M1I exm1210632 16 3293241 [G/C] NM_001198536,NM_000243 MEFV,MEFV EXON Silent,Missense_S749C exm1210633 16 3293257 [A/C] NM_001198536,NM_000243 MEFV,MEFV EXON Silent,Missense_A744S exm1210637 16 3293310 [A/G] NM_001198536,NM_000243 MEFV,MEFV EXON Silent,Missense_V726A exm1210641 16 3293338 [A/G] NM_001198536,NM_000243 MEFV,MEFV EXON Silent,Missense_R717C exm1210645 16 3293403 [T/C] NM_001198536,NM_000243 MEFV,MEFV EXON Silent,Missense_K695R exm1857194 16 3293692 [T/C] NM_001198536,NM_000243 MEFV,MEFV EXON Synonymous_X446X,Missense_N599D exm1210663 16 3293880 [A/G] NM_001198536,NM_000243 MEFV,MEFV EXON Synonymous_D438D,Missense_I591T exm1210664 16 3293882 [T/C] NM_001198536,NM_000243 MEFV,MEFV EXON Missense_D438N,Synonymous_L590L exm1210665 16 3293888 [T/C] NM_001198536,NM_000243 MEFV,MEFV EXON Missense_G436R,Synonymous_P588P exm1210667 16 3293920 [A/T] NM_001198536,NM_000243 MEFV,MEFV EXON Missense_F425Y,Silent exm1210668 16 3293922 [A/T] NM_001198536,NM_000243 MEFV,MEFV EXON Missense_D424E,Silent exm1210671 16 3294255 [A/G] NM_001198536,NM_000243 MEFV,MEFV EXON Synonymous_N375N,Synonymous_N586N exm1210683 16 3297099 [T/C] NM_001198536,NM_000243 MEFV,MEFV EXON Missense_V291I,Missense_V502I exm1210685 16 3297101 [T/C] NM_001198536,NM_000243 MEFV,MEFV EXON Missense_R290H,Missense_R501H exm1210688 16 3297144 [C/G] NM_001198536,NM_000243 MEFV,MEFV EXON Missense_V276L,Missense_V487L exm1210696 16 3297221 [T/C] NM_001198536,NM_000243 MEFV,MEFV EXON Missense_R250Q,Missense_R461Q exm1210711 16 3299468 [T/C] NM_001198536,NM_000243 MEFV,MEFV EXON Missense_R197Q,Missense_R408Q exm1210716 16 3299540 [A/G] NM_001198536,NM_000243 MEFV,MEFV EXON Missense_L173P,Missense_L384P exm1210719 16 3299586 [A/G] NM_001198536,NM_000243 MEFV,MEFV EXON Missense_P158S,Missense_P369S exm1857219 16 3299609 [G/C] NM_001198536,NM_000243 MEFV,MEFV EXON Missense_R150T,Missense_R361T exm1210722 16 3299648 [T/C] NM_001198536,NM_000243 MEFV,MEFV EXON Missense_R137H,Missense_R348H exm1857220 16 3299657 [A/G] NM_001198536,NM_000243 MEFV,MEFV EXON Missense_S134L,Missense_S345L exm1210724 16 3299675 [A/G] NM_001198536,NM_000243 MEFV,MEFV EXON Missense_S128F,Missense_S339F exm1210726 16 3299705 [T/C] NM_001198536,NM_000243 MEFV,MEFV EXON Missense_R118H,Missense_R329H exm1857221 16 3299718 [T/C] NM_001198536,NM_000243 MEFV,MEFV EXON Missense_G114S,Missense_G325S exm1210731 16 3299759 [A/G] NM_001198536,NM_000243 MEFV,MEFV EXON Missense_A100V,Missense_A311V exm1210735 16 3304158 [T/C] NM_001198536,NM_000243 MEFV,MEFV EXON Silent,Missense_G304R exm1210736 16 3304202 [A/G] NM_001198536,NM_000243 MEFV,MEFV EXON Silent,Missense_A289V exm1210765 16 3304626 [C/G] NM_001198536,NM_000243 MEFV,MEFV EXON Silent,Missense_E148Q exm1210770 16 3304685 [T/C] NM_001198536,NM_000243 MEFV,MEFV EXON Silent,Missense_E128G exm2224760 16 3304739 [A/G] NM_001198536,NM_000243 MEFV,MEFV EXON Silent,Missense_L110P exm1210793 16 3306464 [A/G] NM_001198536,NM_000243 MEFV,MEFV EXON Missense_R42W,Missense_R42W exm1210796 16 3306491 [A/C] NM_001198536,NM_000243 MEFV,MEFV EXON Missense_V33L,Missense_V33L exm1210798 16 3306524 [T/C] NM_001198536,NM_000243 MEFV,MEFV EXON Missense_E22K,Missense_E22K exm1210800 16 3306551 [C/G] NM_001198536,NM_000243 MEFV,MEFV EXON Missense_L13V,Missense_L13V exm1210809 16 3333907 [A/C] NM_005741 ZNF263 EXON Missense_P30Q exm1857295 16 3334030 [T/G] NM_005741 ZNF263 EXON Missense_R71L exm1857297 16 3334188 [C/G] NM_005741 ZNF263 EXON Missense_G124R exm1857299 16 3335101 [A/C] NM_005741 ZNF263 EXON Missense_P144T exm1210817 16 3335113 [A/G] NM_005741 ZNF263 EXON Missense_E148K exm1210824 16 3336033 [T/G] NM_005741 ZNF263 EXON Missense_S218I exm1210827 16 3336067 [T/G] NM_005741 ZNF263 EXON Missense_E229D exm1210828 16 3336099 [A/C] NM_005741 ZNF263 EXON Missense_A240D exm1210829 16 3336125 [T/A] NM_005741 ZNF263 EXON Missense_S249C exm1857311 16 3339413 [G/C] NM_005741 ZNF263 EXON Missense_L303V exm1210833 16 3339425 [T/C] NM_005741 ZNF263 EXON Missense_P307S exm1210835 16 3339435 [C/G] NM_005741 ZNF263 EXON Missense_C310S exm1857312 16 3339480 [A/G] NM_005741 ZNF263 EXON Missense_R325Q exm1210847 16 3339609 [A/G] NM_005741 ZNF263 EXON Missense_R368Q exm1210868 16 3340070 [A/G] NM_005741 ZNF263 EXON Missense_E522K exm1210869 16 3340106 [A/G] NM_005741 ZNF263 EXON Missense_V534I exm1210886 16 3348985 [T/C] NM_033208 TIGD7 EXON Missense_T544A exm1210887 16 3348996 [T/C] NM_033208 TIGD7 EXON Missense_S540N exm1210898 16 3349300 [C/G] NM_033208 TIGD7 EXON Missense_V439L exm1210902 16 3349353 [G/C] NM_033208 TIGD7 EXON Missense_R421T exm1210904 16 3349360 [C/G] NM_033208 TIGD7 EXON Missense_D419H exm1210905 16 3349432 [A/T] NM_033208 TIGD7 EXON Missense_I395L exm1210906 16 3349477 [T/C] NM_033208 TIGD7 EXON Missense_I380V exm1210909 16 3349568 [G/C] NM_033208 TIGD7 EXON Missense_E349D exm2224763 16 3349647 [C/G] NM_033208 TIGD7 EXON Missense_T323S exm1210923 16 3349810 [T/C] NM_033208 TIGD7 EXON Missense_N269D exm1210931 16 3350026 [T/C] NM_033208 TIGD7 EXON Missense_D197N exm1210939 16 3350226 [T/C] NM_033208 TIGD7 EXON Missense_R130Q exm1210941 16 3350268 [T/C] NM_033208 TIGD7 EXON Missense_R116Q exm1210946 16 3350377 [C/G] NM_033208 TIGD7 EXON Missense_V80L exm1210955 16 3350611 [A/T] NM_033208 TIGD7 EXON Missense_N2Y exm1210968 16 3367229 [T/C] NM_153028 ZNF75A EXON Missense_V84A exm1210970 16 3367292 [A/G] NM_153028 ZNF75A EXON Missense_K105R exm1210971 16 3367309 [A/G] NM_153028 ZNF75A EXON Missense_A111T exm1210978 16 3367612 [G/C] NM_153028 ZNF75A EXON Missense_Q212E exm1210983 16 3367831 [T/C] NM_153028 ZNF75A EXON Missense_R285W exm1857399 16 3367840 [A/C] NM_153028 ZNF75A EXON Missense_L288I exm1210986 16 3405946 [C/G] NM_012368 OR2C1 EXON Missense_D2E exm1210992 16 3406019 [T/C] NM_012368 OR2C1 EXON Missense_F27L exm1210993 16 3406112 [T/C] NM_012368 OR2C1 EXON Missense_P58S exm1210998 16 3406185 [T/C] NM_012368 OR2C1 EXON Missense_L82P exm1210999 16 3406198 [A/G] NM_012368 OR2C1 EXON Nonsense_W86X exm1211007 16 3406340 [A/G] NM_012368 OR2C1 EXON Missense_A134T exm1211010 16 3406387 [C/G] NM_012368 OR2C1 EXON Missense_C149W exm1211013 16 3406446 [A/G] NM_012368 OR2C1 EXON Missense_C169Y exm1211015 16 3406454 [T/C] NM_012368 OR2C1 EXON Missense_R172W exm1211017 16 3406478 [A/G] NM_012368 OR2C1 EXON Missense_E180K exm1211020 16 3406511 [T/G] NM_012368 OR2C1 EXON Missense_D191Y exm1211030 16 3406643 [T/C] NM_012368 OR2C1 EXON Nonsense_R235X exm1211031 16 3406707 [A/G] NM_012368 OR2C1 EXON Missense_S256N exm1211035 16 3406749 [A/T] NM_012368 OR2C1 EXON Missense_Q270L exm1211039 16 3406776 [T/C] NM_012368 OR2C1 EXON Missense_S279L exm1211041 16 3406791 [T/C] NM_012368 OR2C1 EXON Missense_M284T exm1211042 16 3406817 [T/C] NM_012368 OR2C1 EXON Missense_R293W exm1211044 16 3406838 [A/G] NM_012368 OR2C1 EXON Missense_A300T exm1211046 16 3406875 [A/G] NM_012368 OR2C1 EXON Missense_G312D exm1211051 16 3432913 [T/C] NM_017810 ZSCAN32 EXON Missense_R466H exm1211054 16 3432952 [T/G] NM_017810 ZSCAN32 EXON Missense_H453P exm1211058 16 3432992 [A/G] NM_017810 ZSCAN32 EXON Nonsense_R440X exm1211071 16 3433075 [T/C] NM_017810 ZSCAN32 EXON Missense_R412Q exm1211075 16 3433126 [T/C] NM_017810 ZSCAN32 EXON Missense_C395Y exm1211083 16 3433310 [T/C] NM_017810 ZSCAN32 EXON Missense_E334K exm1211085 16 3433318 [T/C] NM_017810 ZSCAN32 EXON Missense_H331R exm1857454 16 3433334 [A/G] NM_017810 ZSCAN32 EXON Missense_R326W exm1211092 16 3433558 [T/C] NM_017810 ZSCAN32 EXON Missense_R251K exm1211094 16 3433574 [T/C] NM_017810 ZSCAN32 EXON Missense_E246K exm1211095 16 3433622 [A/G] NM_017810 ZSCAN32 EXON Missense_S230P exm1211102 16 3434491 [A/G] NM_017810 ZSCAN32 EXON Missense_L189P exm1211107 16 3434632 [C/G] NM_017810 ZSCAN32 EXON Missense_P142R exm1211108 16 3434636 [A/C] NM_017810 ZSCAN32 EXON Missense_V141F exm1211109 16 3434656 [A/G] NM_017810 ZSCAN32 EXON Missense_P134L exm1211110 16 3434699 [A/G] NM_017810 ZSCAN32 EXON Missense_Y120H exm1211112 16 3434710 [T/G] NM_017810 ZSCAN32 EXON Missense_P116H exm1211116 16 3434740 [T/C] NM_017810 ZSCAN32 EXON Missense_R106H exm1211122 16 3434886 [A/T] NM_017810 ZSCAN32 EXON Missense_S57R exm1211129 16 3434896 [A/G] NM_017810 ZSCAN32 EXON Missense_A54V exm1211130 16 3434905 [A/G] NM_017810 ZSCAN32 EXON Missense_T51M exm1211132 16 3434924 [A/C] NM_017810 ZSCAN32 EXON Missense_G45C exm1211136 16 3440034 [T/A] NM_017810 ZSCAN32 EXON Missense_R31W exm-IND16-3387103 16 3447103 [I/D] NM_017810 ZSCAN32 exm1211171 16 3454526 [A/G] NM_001032292,NM_003450 ZNF174,ZNF174 EXON Missense_R168K,Missense_R168K exm1211181 16 3454980 [A/C] NM_001032292,NM_003450 ZNF174,ZNF174 EXON Missense_I233L,Silent exm1211189 16 3458555 [T/G] NM_003450 ZNF174 EXON Missense_S287I exm1211190 16 3458567 [T/G] NM_003450 ZNF174 EXON Missense_S291I exm1211193 16 3458590 [A/G] NM_003450 ZNF174 EXON Missense_K299E exm1211194 16 3458609 [A/G] NM_003450 ZNF174 EXON Missense_R305Q exm1211222 16 3486593 [T/C] NM_152457 ZNF597 EXON Missense_H369R exm2252578 16 3486679 [T/G] NM_152457 ZNF597 EXON Synonymous_P340P exm1211228 16 3486729 [A/G] NM_152457 ZNF597 EXON Missense_R324C exm1211231 16 3486741 [T/C] NM_152457 ZNF597 EXON Missense_E320K exm1211233 16 3486751 [G/C] NM_152457 ZNF597 EXON Missense_K316N exm1211234 16 3486756 [T/C] NM_152457 ZNF597 EXON Missense_E315K exm1211241 16 3486829 [T/G] NM_152457 ZNF597 EXON Missense_F290L exm1211246 16 3486883 [T/G] NM_152457 ZNF597 EXON Missense_N272K exm1857515 16 3486950 [A/G] NM_152457 ZNF597 EXON Missense_M250T exm1211251 16 3486996 [T/C] NM_152457 ZNF597 EXON Missense_V235I exm1211254 16 3487018 [T/C] NM_152457 ZNF597 EXON Synonymous_L227L exm2252579 16 3487018 [T/C] NM_152457 ZNF597 EXON Synonymous_L227L exm1211259 16 3487104 [C/G] NM_152457 ZNF597 EXON Missense_L199V exm1211267 16 3487398 [T/G] NM_152457 ZNF597 EXON Missense_P101T exm1211268 16 3487431 [G/C] NM_152457 ZNF597 EXON Missense_P90A exm1211273 16 3487500 [C/G] NM_152457 ZNF597 EXON Missense_L67V exm1211279 16 3490932 [T/C] NM_152457 ZNF597 EXON Missense_G12E exm1211289 16 3526259 [A/G] NM_001083601,NM_024845,NM_001083600 NAA60,NAA60,NAA60 EXON Missense_S11N,Missense_S11N,Missense_S11N exm1211293 16 3526336 [A/G] NM_001083601,NM_024845,NM_001083600 NAA60,NAA60,NAA60 EXON Missense_E37K,Missense_E37K,Missense_E37K exm1211301 16 3532505 [A/G] NM_001083601,NM_024845,NM_001083600 NAA60,NAA60,NAA60 EXON Missense_G82R,Missense_G82R,Missense_G82R exm1211322 16 3534763 [A/G] NM_001083601,NM_024845,NM_001083600 NAA60,NAA60,NAA60 EXON Missense_V213I,Missense_V213I,Missense_V213I exm1211323 16 3534780 [G/C] NM_001083601,NM_024845,NM_001083600 NAA60,NAA60,NAA60 EXON Missense_H218Q,Missense_H218Q,Missense_H218Q exm1211334 16 3544566 [C/G] NM_001080524 C16orf90 EXON Missense_L120V exm1857561 16 3544659 [G/C] NM_001080524 C16orf90 EXON Missense_A89P exm1211349 16 3544746 [A/G] NM_001080524 C16orf90 EXON Missense_R60C exm1211366 16 3545385 [T/C] NM_001080524 C16orf90 EXON Missense_I13V exm1211390 16 3556398 [T/G] NM_015041 CLUAP1 EXON Missense_A68S exm1211397 16 3558422 [T/C] NM_015041 CLUAP1 EXON Missense_I118T exm1211399 16 3558460 [T/G] NM_015041 CLUAP1 EXON Missense_G131C exm1211402 16 3562438 [A/C] NM_015041,NM_024793 CLUAP1,CLUAP1 EXON Missense_A152E,Silent exm1211410 16 3569909 [T/G] NM_015041,NM_024793 CLUAP1,CLUAP1 EXON Missense_V196F,Missense_V30F exm1211411 16 3569921 [A/G] NM_015041,NM_024793 CLUAP1,CLUAP1 EXON Missense_K200E,Missense_K34E exm1211423 16 3576466 [T/C] NM_015041,NM_024793 CLUAP1,CLUAP1 EXON Missense_R304C,Missense_R138C exm1211426 16 3576475 [A/C] NM_015041,NM_024793 CLUAP1,CLUAP1 EXON Missense_K307Q,Missense_K141Q exm1211436 16 3580644 [C/G] NM_015041,NM_024793 CLUAP1,CLUAP1 EXON Missense_K335N,Missense_K169N exm1211437 16 3580651 [A/C] NM_015041,NM_024793 CLUAP1,CLUAP1 EXON Missense_T338P,Missense_T172P exm1211442 16 3582833 [A/G] NM_015041,NM_024793 CLUAP1,CLUAP1 EXON Missense_D362N,Missense_D196N exm1211444 16 3586123 [A/G] NM_015041,NM_024793 CLUAP1,CLUAP1 EXON Missense_E365G,Missense_E199G exm1211445 16 3586129 [T/C] NM_015041,NM_024793 CLUAP1,CLUAP1 EXON Missense_S367L,Missense_S201L exm1211451 16 3586230 [T/C] NM_015041,NM_024793 CLUAP1,CLUAP1 EXON Missense_R401W,Missense_R235W exm1211453 16 3586261 [A/G] NM_015041,NM_024793 CLUAP1,CLUAP1 EXON Missense_N411S,Missense_N245S exm1211472 16 3593426 [T/C] NR_075083,NM_178844 NLRC3,NLRC3 EXON Silent,Missense_D980N exm1211481 16 3594296 [T/C] NR_075083,NM_178844 NLRC3,NLRC3 EXON Silent,Synonymous_A935A exm1211484 16 3594311 [A/G] NR_075083,NM_178844 NLRC3,NLRC3 EXON Silent,Synonymous_I930I exm1211485 16 3594316 [T/C] NR_075083,NM_178844 NLRC3,NLRC3 EXON Silent,Missense_A929T exm1211487 16 3598190 [T/C] NR_075083,NM_178844 NLRC3,NLRC3 EXON Silent,Missense_A906T exm1211501 16 3599200 [T/C] NR_075083,NM_178844 NLRC3,NLRC3 EXON Silent,Missense_E849K exm1211511 16 3602242 [T/C] NR_075083,NM_178844 NLRC3,NLRC3 EXON Silent,Missense_R769Q exm1211516 16 3604262 [A/G] NR_075083,NM_178844 NLRC3,NLRC3 EXON Silent,Missense_R750W exm1211522 16 3606947 [T/G] NR_075083,NM_178844 NLRC3,NLRC3 EXON Silent,Missense_D716E exm1211524 16 3607646 [T/C] NR_075083,NM_178844 NLRC3,NLRC3 EXON Silent,Missense_A683T exm1211525 16 3607672 [A/G] NR_075083,NM_178844 NLRC3,NLRC3 EXON Silent,Missense_A674V exm1857619 16 3611711 [C/G] NR_075083,NM_178844 NLRC3,NLRC3 EXON Silent,Missense_Q669H exm1211527 16 3611718 [T/C] NR_075083,NM_178844 NLRC3,NLRC3 EXON Silent,Missense_R667H exm1211530 16 3611761 [T/C] NR_075083,NM_178844 NLRC3,NLRC3 EXON Silent,Missense_V653M exm1211533 16 3613019 [T/C] NR_075083,NM_178844 NLRC3,NLRC3 EXON Silent,Missense_R640Q exm1211541 16 3613170 [T/C] NR_075083,NM_178844 NLRC3,NLRC3 EXON Silent,Missense_G590R exm1211543 16 3613239 [T/C] NR_075083,NM_178844 NLRC3,NLRC3 EXON Silent,Missense_V567M exm1211547 16 3613263 [T/C] NR_075083,NM_178844 NLRC3,NLRC3 EXON Silent,Missense_A559T exm1211562 16 3613446 [T/C] NR_075083,NM_178844 NLRC3,NLRC3 EXON Silent,Missense_A498T exm1211563 16 3613451 [T/C] NR_075083,NM_178844 NLRC3,NLRC3 EXON Silent,Missense_R496K exm1211567 16 3613493 [T/C] NR_075083,NM_178844 NLRC3,NLRC3 EXON Silent,Missense_S482N exm1211572 16 3613617 [T/C] NR_075083,NM_178844 NLRC3,NLRC3 EXON Silent,Missense_R441G exm1857624 16 3613637 [A/G] NR_075083,NM_178844 NLRC3,NLRC3 EXON Silent,Missense_P434L exm1211575 16 3613662 [G/C] NR_075083,NM_178844 NLRC3,NLRC3 EXON Silent,Missense_D426H exm1211576 16 3613667 [T/C] NR_075083,NM_178844 NLRC3,NLRC3 EXON Silent,Missense_G424D exm1211584 16 3613784 [T/C] NR_075083,NM_178844 NLRC3,NLRC3 EXON Silent,Missense_R385H exm1211592 16 3613904 [G/C] NR_075083,NM_178844 NLRC3,NLRC3 EXON Silent,Missense_S345T exm1211593 16 3613911 [A/C] NR_075083,NM_178844 NLRC3,NLRC3 EXON Silent,Missense_W343G exm1211595 16 3613928 [A/G] NR_075083,NM_178844 NLRC3,NLRC3 EXON Silent,Missense_M337T exm1211604 16 3614059 [A/C] NR_075083,NM_178844 NLRC3,NLRC3 EXON Silent,Missense_E293D exm1211606 16 3614080 [G/C] NR_075083,NM_178844 NLRC3,NLRC3 EXON Silent,Missense_I286M exm1211608 16 3614093 [T/C] NR_075083,NM_178844 NLRC3,NLRC3 EXON Silent,Missense_R282Q exm1211609 16 3614094 [A/G] NR_075083,NM_178844 NLRC3,NLRC3 EXON Silent,Missense_R282W exm1211615 16 3614136 [A/G] NR_075083,NM_178844 NLRC3,NLRC3 EXON Silent,Missense_R268C exm1211622 16 3614261 [A/G] NR_075083,NM_178844 NLRC3,NLRC3 EXON Silent,Missense_T226M exm1211626 16 3614325 [T/C] NR_075083,NM_178844 NLRC3,NLRC3 EXON Silent,Missense_S205G exm1211635 16 3614445 [T/C] NR_075083,NM_178844 NLRC3,NLRC3 EXON Silent,Missense_G165R exm1211643 16 3614540 [T/C] NR_075083,NM_178844 NLRC3,NLRC3 EXON Silent,Missense_R133Q exm1211655 16 3614739 [A/G] NR_075083,NM_178844 NLRC3,NLRC3 EXON Silent,Missense_R67C exm1211658 16 3614880 [A/G] NR_075083,NM_178844 NLRC3,NLRC3 EXON Silent,Missense_P53L exm1211663 16 3614971 [T/C] NR_075083,NM_178844 NLRC3,NLRC3 EXON Silent,Missense_E23K exm-rs758747 16 3627358 [T/C] NR_075083,NM_178844 NLRC3,NLRC3 EXON Silent,Silent exm1211672 16 3632347 [T/C] NM_032444 SLX4 EXON Missense_N1834S exm1211674 16 3632372 [A/G] NM_032444 SLX4 EXON Missense_R1826W exm1211676 16 3632407 [T/C] NM_032444 SLX4 EXON Missense_R1814H exm1211685 16 3632567 [A/G] NM_032444 SLX4 EXON Missense_R1761C exm1211693 16 3632660 [A/G] NM_032444 SLX4 EXON Missense_S1730P exm1211696 16 3633105 [A/T] NM_032444 SLX4 EXON Missense_S1716T exm1211700 16 3633222 [A/G] NM_032444 SLX4 EXON Missense_P1677S exm1211713 16 3633383 [A/G] NM_032444 SLX4 EXON Missense_A1623V exm1857651 16 3633486 [A/G] NM_032444 SLX4 EXON Missense_R1589C exm1211722 16 3634794 [A/G] NM_032444 SLX4 EXON Missense_P1572L exm1211723 16 3634812 [T/C] NM_032444 SLX4 EXON Missense_Y1566C exm1211726 16 3634851 [T/A] NM_032444 SLX4 EXON Missense_N1553I exm1211730 16 3639039 [T/C] NM_032444 SLX4 EXON Missense_G1534S exm1211731 16 3639049 [T/C] NM_032444 SLX4 EXON Missense_M1530I exm1211761 16 3639378 [A/T] NM_032444 SLX4 EXON Missense_I1421F exm1211762 16 3639398 [A/G] NM_032444 SLX4 EXON Missense_P1414L exm1211767 16 3639524 [T/C] NM_032444 SLX4 EXON Missense_R1372Q exm1211769 16 3639540 [T/C] NM_032444 SLX4 EXON Missense_A1367T exm1211774 16 3639582 [T/G] NM_032444 SLX4 EXON Missense_H1353N exm1211780 16 3639615 [T/C] NM_032444 SLX4 EXON Missense_S1342G exm1211785 16 3639699 [T/G] NM_032444 SLX4 EXON Missense_Q1314K exm1211787 16 3639728 [A/C] NM_032444 SLX4 EXON Missense_V1304G exm1211790 16 3639771 [T/G] NM_032444 SLX4 EXON Missense_H1290N exm1211791 16 3639782 [A/G] NM_032444 SLX4 EXON Missense_A1286V exm1211793 16 3639827 [A/G] NM_032444 SLX4 EXON Missense_S1271F exm1211807 16 3639963 [A/G] NM_032444 SLX4 EXON Missense_R1226W exm1211809 16 3639991 [A/C] NM_032444 SLX4 EXON Missense_Q1216H exm1211817 16 3640271 [T/G] NM_032444 SLX4 EXON Missense_S1123Y exm1211818 16 3640274 [A/G] NM_032444 SLX4 EXON Missense_P1122L exm1211827 16 3640461 [A/G] NM_032444 SLX4 EXON Missense_R1060W exm1211831 16 3640538 [T/C] NM_032444 SLX4 EXON Missense_R1034H exm1211837 16 3640664 [T/C] NM_032444 SLX4 EXON Missense_G992E exm1211841 16 3640715 [A/G] NM_032444 SLX4 EXON Missense_P975L exm1211844 16 3640784 [A/G] NM_032444 SLX4 EXON Missense_A952V exm1211849 16 3640815 [G/C] NM_032444 SLX4 EXON Missense_E942Q exm1211851 16 3640853 [A/G] NM_032444 SLX4 EXON Missense_P929L exm1211852 16 3640883 [A/G] NM_032444 SLX4 EXON Missense_T919I exm1211855 16 3640893 [A/C] NM_032444 SLX4 EXON Missense_A916S exm1211861 16 3640985 [A/G] NM_032444 SLX4 EXON Missense_P885L exm1211866 16 3641030 [A/G] NM_032444 SLX4 EXON Missense_A870V exm1211867 16 3641054 [T/C] NM_032444 SLX4 EXON Missense_R862Q exm1211871 16 3641190 [C/G] NM_032444 SLX4 EXON Missense_E817Q exm1211874 16 3641280 [T/C] NM_032444 SLX4 EXON Missense_E787K exm1211879 16 3642722 [G/C] NM_032444 SLX4 EXON Missense_E769Q exm1211882 16 3642778 [A/G] NM_032444 SLX4 EXON Missense_T750M exm1211883 16 3642781 [T/C] NM_032444 SLX4 EXON Missense_R749H exm1211887 16 3642817 [T/C] NM_032444 SLX4 EXON Missense_R737H exm1211894 16 3644511 [G/C] NM_032444 SLX4 EXON Missense_E701D exm1211899 16 3644567 [T/C] NM_032444 SLX4 EXON Missense_A683T exm1211903 16 3645607 [A/G] NM_032444 SLX4 EXON Missense_L671S exm1211910 16 3646180 [T/C] NM_032444 SLX4 EXON Missense_G633D exm1211912 16 3646205 [T/C] NM_032444 SLX4 EXON Missense_A625T exm1211933 16 3647479 [C/G] NM_032444 SLX4 EXON Missense_S528R exm1211944 16 3647608 [T/G] NM_032444 SLX4 EXON Missense_D485E exm1211946 16 3647621 [T/C] NM_032444 SLX4 EXON Missense_R481Q exm1211969 16 3647932 [T/C] NM_032444 SLX4 EXON Missense_R411Q exm1211975 16 3650987 [T/C] NM_032444 SLX4 EXON Missense_M386V exm1211992 16 3652224 [A/G] NM_032444 SLX4 EXON Missense_S282L exm1211994 16 3652237 [A/G] NM_032444 SLX4 EXON Missense_R278W exm1211997 16 3656493 [T/C] NM_032444 SLX4 EXON Missense_E248K exm1211999 16 3656517 [T/C] NM_032444 SLX4 EXON Missense_N240D exm1212001 16 3656525 [T/C] NM_032444 SLX4 EXON Missense_R237Q exm1212010 16 3656625 [A/G] NM_032444 SLX4 EXON Missense_R204C exm1212011 16 3656645 [A/G] NM_032444 SLX4 EXON Missense_V197A exm1212016 16 3658481 [A/G] NM_032444 SLX4 EXON Missense_T162M exm1212017 16 3658499 [T/G] NM_032444 SLX4 EXON Missense_T156K exm1212021 16 3658544 [A/C] NM_032444 SLX4 EXON Missense_G141V exm1857715 16 3658545 [A/C] NM_032444 SLX4 EXON Missense_G141W exm1212041 16 3658880 [T/C] NM_032444 SLX4 EXON Missense_R29H exm1212042 16 3658881 [A/G] NM_032444 SLX4 EXON Missense_R29C exm2224791 16 3658893 [T/C] NM_032444 SLX4 EXON Missense_G25R exm1212046 16 3705380 [T/G] NM_005223 DNASE1 EXON Missense_R2S exm2224792 16 3705465 [G/C] NM_005223 DNASE1 EXON Missense_Q31E exm1212056 16 3705479 [G/C] NM_005223 DNASE1 EXON Missense_E35D exm1212070 16 3705881 [A/G] NM_005223 DNASE1 EXON Missense_Q60R exm1212080 16 3706185 [A/G] NM_005223 DNASE1 EXON Missense_R107G exm1212082 16 3706649 [A/G] NM_005223 DNASE1 EXON Missense_V111M exm1212083 16 3706656 [T/C] NM_005223 DNASE1 EXON Missense_A113V exm1212085 16 3706668 [A/C] NM_005223 DNASE1 EXON Missense_Y117S exm1212088 16 3706697 [A/G] NM_005223 DNASE1 EXON Missense_G127R exm1212090 16 3706703 [A/G] NM_005223 DNASE1 EXON Missense_D129N exm1212095 16 3706746 [A/G] NM_005223 DNASE1 EXON Missense_R143Q exm2224796 16 3707023 [C/G] NM_005223 DNASE1 EXON Missense_P154A exm1212099 16 3707033 [T/C] NM_005223 DNASE1 EXON Missense_A157V exm1212106 16 3707066 [T/C] NM_005223 DNASE1 EXON Missense_A168V exm1212110 16 3707110 [G/C] NM_005223 DNASE1 EXON Missense_E183Q exm1212112 16 3707191 [A/G] NM_005223 DNASE1 EXON Missense_V185I exm1212115 16 3707206 [G/C] NM_005223 DNASE1 EXON Missense_D190H exm1212117 16 3707216 [T/C] NM_005223 DNASE1 EXON Missense_A193V exm1212119 16 3707257 [T/C] NM_005223 DNASE1 EXON Missense_R207C exm1212121 16 3707293 [T/C] NM_005223 DNASE1 EXON Missense_P219S exm1212124 16 3707300 [A/G] NM_005223 DNASE1 EXON Missense_S221N exm1212126 16 3707324 [T/C] NM_005223 DNASE1 EXON Missense_T229M exm1212134 16 3707746 [T/C] NM_005223 DNASE1 EXON Nonsense_R244X exm1212135 16 3707747 [A/G] NM_005223 DNASE1 EXON Missense_R244Q exm1212136 16 3707755 [A/G] NM_005223 DNASE1 EXON Missense_V247I exm1212139 16 3707792 [G/C] NM_005223 DNASE1 EXON Missense_A259G exm1212143 16 3707817 [A/G] NM_005223 DNASE1 EXON Synonymous_L267L exm1212146 16 3707917 [T/C] NM_005223 DNASE1 EXON Missense_I271T exm1212152 16 3708130 [T/G] NM_001272049,NM_016292 TRAP1,TRAP1 EXON Missense_X652C,Missense_X705C exm1212153 16 3708137 [T/C] NM_001272049,NM_016292 TRAP1,TRAP1 EXON Missense_R650Q,Missense_R703Q exm1212157 16 3708170 [T/C] NM_001272049,NM_016292 TRAP1,TRAP1 EXON Missense_R639H,Missense_R692H exm1212158 16 3708171 [A/G] NM_001272049,NM_016292 TRAP1,TRAP1 EXON Missense_R639C,Missense_R692C exm1212169 16 3708834 [T/C] NM_001272049,NM_016292 TRAP1,TRAP1 EXON Missense_R605H,Missense_R658H exm1212173 16 3708861 [A/G] NM_001272049,NM_016292 TRAP1,TRAP1 EXON Missense_A596V,Missense_A649V exm1857774 16 3708863 [A/G] NM_001272049,NM_016292 TRAP1,TRAP1 EXON Synonymous_H595H,Synonymous_H648H exm1212175 16 3712001 [T/C] NM_001272049,NM_016292 TRAP1,TRAP1 EXON Missense_E590K,Missense_E643K exm1212177 16 3712016 [T/G] NM_001272049,NM_016292 TRAP1,TRAP1 EXON Missense_L585M,Missense_L638M exm1212185 16 3712106 [A/C] NM_001272049,NM_016292 TRAP1,TRAP1 EXON Missense_A555S,Missense_A608S exm1212188 16 3712124 [A/G] NM_001272049,NM_016292 TRAP1,TRAP1 EXON Nonsense_R549X,Nonsense_R602X exm1212196 16 3712941 [A/G] NM_001272049,NM_016292 TRAP1,TRAP1 EXON Missense_T526M,Missense_T579M exm1212207 16 3713497 [T/G] NM_001272049,NM_016292 TRAP1,TRAP1 EXON Missense_K493Q,Missense_K546Q exm1212216 16 3714331 [A/G] NM_001272049,NM_016292 TRAP1,TRAP1 EXON Missense_R452C,Missense_R505C exm1212228 16 3714438 [T/C] NM_001272049,NM_016292 TRAP1,TRAP1 EXON Missense_R416H,Missense_R469H exm1212229 16 3714439 [A/G] NM_001272049,NM_016292 TRAP1,TRAP1 EXON Missense_R416C,Missense_R469C exm1212230 16 3714458 [A/C] NM_001272049,NM_016292 TRAP1,TRAP1 EXON Missense_E409D,Missense_E462D exm1212234 16 3716013 [T/C] NM_001272049,NM_016292 TRAP1,TRAP1 EXON Missense_M395V,Missense_M448V exm1212237 16 3716025 [T/A] NM_001272049,NM_016292 TRAP1,TRAP1 EXON Missense_Y391N,Missense_Y444N exm1212238 16 3716031 [T/C] NM_001272049,NM_016292 TRAP1,TRAP1 EXON Missense_E389K,Missense_E442K exm1212261 16 3722703 [T/C] NM_001272049,NM_016292 TRAP1,TRAP1 EXON Missense_R335Q,Missense_R388Q exm1212262 16 3722704 [A/G] NM_001272049,NM_016292 TRAP1,TRAP1 EXON Nonsense_R335X,Nonsense_R388X exm1212276 16 3724365 [T/C] NM_001272049,NM_016292 TRAP1,TRAP1 EXON Missense_R287H,Missense_R340H exm2252583 16 3724451 [A/G] NM_001272049,NM_016292 TRAP1,TRAP1 EXON Synonymous_H258H,Synonymous_H311H exm1212284 16 3724451 [A/G] NM_001272049,NM_016292 TRAP1,TRAP1 EXON Synonymous_H258H,Synonymous_H311H exm1212285 16 3724465 [G/C] NM_001272049,NM_016292 TRAP1,TRAP1 EXON Missense_R254G,Missense_R307G exm2224800 16 3725363 [A/G] NM_001272049,NM_016292 TRAP1,TRAP1 EXON Missense_P231S,Missense_P284S exm1212292 16 3725366 [A/G] NM_001272049,NM_016292 TRAP1,TRAP1 EXON Missense_F230L,Missense_F283L exm1212302 16 3726039 [T/C] NM_001272049,NM_016292 TRAP1,TRAP1 EXON Missense_R218Q,Missense_R271Q exm1212306 16 3726075 [A/G] NM_001272049,NM_016292 TRAP1,TRAP1 EXON Missense_S206F,Missense_S259F exm1212307 16 3726094 [T/C] NM_001272049,NM_016292 TRAP1,TRAP1 EXON Missense_I200V,Missense_I253V exm1212327 16 3727629 [T/C] NM_001272049,NM_016292 TRAP1,TRAP1 EXON Missense_E139K,Missense_E192K exm1212329 16 3727648 [A/C] NM_001272049,NM_016292 TRAP1,TRAP1 EXON Missense_D132E,Missense_D185E exm1212332 16 3729770 [G/C] NM_001272049,NM_016292 TRAP1,TRAP1 EXON Missense_Q112E,Missense_Q165E exm1212338 16 3736020 [T/C] NM_001272049,NM_016292 TRAP1,TRAP1 EXON Missense_E97K,Missense_E150K exm1212355 16 3740843 [T/G] NM_001272049,NM_016292 TRAP1,TRAP1 EXON Silent,Missense_T78P exm1857842 16 3740926 [A/G] NM_001272049,NM_016292 TRAP1,TRAP1 EXON Silent,Missense_A50V exm1212361 16 3740935 [T/C] NM_001272049,NM_016292 TRAP1,TRAP1 EXON Silent,Missense_R47Q exm1212362 16 3740936 [A/G] NM_001272049,NM_016292 TRAP1,TRAP1 EXON Silent,Nonsense_R47X exm2267924 16 3741562 [A/G] NM_001272049,NM_016292 TRAP1,TRAP1 Silent,Silent exm2272335 16 3747204 [T/C] NM_001272049,NM_016292 TRAP1,TRAP1 Silent,Silent exm1212401 16 3778316 [T/C] NM_001079846,NM_004380 CREBBP,CREBBP EXON Missense_M2206I,Missense_M2244I exm1212405 16 3778363 [T/C] NM_001079846,NM_004380 CREBBP,CREBBP EXON Missense_G2191S,Missense_G2229S exm1212426 16 3778708 [T/C] NM_001079846,NM_004380 CREBBP,CREBBP EXON Missense_G2076S,Missense_G2114S exm1212428 16 3778716 [T/C] NM_001079846,NM_004380 CREBBP,CREBBP EXON Missense_N2073S,Missense_N2111S exm2252585 16 3779057 [A/G] NM_001079846,NM_004380 CREBBP,CREBBP EXON Synonymous_P1959P,Synonymous_P1997P exm1212485 16 3781845 [T/G] NM_001079846,NM_004380 CREBBP,CREBBP EXON Missense_P1570T,Missense_P1608T exm1212519 16 3795351 [T/C] NM_001079846,NM_004380 CREBBP,CREBBP EXON Missense_V1243I,Missense_V1281I exm1212528 16 3807376 [A/T] NM_001079846,NM_004380 CREBBP,CREBBP EXON Missense_Y1166F,Missense_Y1204F exm-rs886528 16 3811556 [A/G] NM_001079846,NM_004380 CREBBP,CREBBP Silent,Silent exm1212539 16 3817813 [A/G] NM_001079846,NM_004380 CREBBP,CREBBP EXON Missense_P1015L,Missense_P1053L exm1212540 16 3817843 [A/G] NM_001079846,NM_004380 CREBBP,CREBBP EXON Missense_S1005L,Missense_S1043L exm1212543 16 3819206 [A/G] NM_001079846,NM_004380 CREBBP,CREBBP EXON Missense_P972L,Missense_P1010L exm1212547 16 3819261 [T/C] NM_001079846,NM_004380 CREBBP,CREBBP EXON Missense_V954I,Missense_V992I exm1212550 16 3819284 [T/C] NM_001079846,NM_004380 CREBBP,CREBBP EXON Missense_N946S,Missense_N984S exm1212552 16 3819294 [T/C] NM_001079846,NM_004380 CREBBP,CREBBP EXON Missense_A943T,Missense_A981T exm1212566 16 3820723 [T/C] NM_001079846,NM_004380 CREBBP,CREBBP EXON Missense_T872A,Missense_T910A exm1212576 16 3820879 [A/G] NM_001079846,NM_004380 CREBBP,CREBBP EXON Missense_P820S,Missense_P858S exm1212592 16 3823903 [T/C] NM_001079846,NM_004380 CREBBP,CREBBP EXON Missense_Q733R,Missense_Q771R exm1212598 16 3824614 [T/C] NM_001079846,NM_004380 CREBBP,CREBBP EXON Missense_M709V,Missense_M747V exm1212619 16 3830824 [A/G] NM_001079846,NM_004380 CREBBP,CREBBP EXON Missense_P540S,Missense_P578S exm1212631 16 3832859 [T/C] NM_001079846,NM_004380 CREBBP,CREBBP EXON Missense_A429T,Missense_A467T exm1212647 16 3860674 [T/C] NM_001079846,NM_004380 CREBBP,CREBBP EXON Missense_S302N,Missense_S302N exm1212648 16 3860684 [T/C] NM_001079846,NM_004380 CREBBP,CREBBP EXON Missense_S299G,Missense_S299G exm1212657 16 3900336 [T/C] NM_001079846,NM_004380 CREBBP,CREBBP EXON Missense_A254T,Missense_A254T exm1212661 16 3900384 [C/G] NM_001079846,NM_004380 CREBBP,CREBBP EXON Missense_V238L,Missense_V238L exm1212670 16 3900713 [G/C] NM_001079846,NM_004380 CREBBP,CREBBP EXON Missense_S128C,Missense_S128C exm1212672 16 3900803 [A/C] NM_001079846,NM_004380 CREBBP,CREBBP EXON Missense_G98V,Missense_G98V exm1212674 16 3900818 [T/C] NM_001079846,NM_004380 CREBBP,CREBBP EXON Missense_S93N,Missense_S93N exm1212692 16 4015870 [T/C] NM_001116 ADCY9 EXON Missense_R1323Q exm1212693 16 4015883 [T/C] NM_001116 ADCY9 EXON Missense_E1319K exm1212727 16 4016345 [T/C] NM_001116 ADCY9 EXON Missense_V1165I exm1212731 16 4016377 [T/C] NM_001116 ADCY9 EXON Missense_N1154S exm1212761 16 4016932 [T/C] NM_001116 ADCY9 EXON Missense_R969H exm1212762 16 4016935 [A/G] NM_001116 ADCY9 EXON Missense_P968L exm2224805 16 4027624 [A/C] NM_001116 ADCY9 EXON Missense_V896G exm2224806 16 4033324 [T/C] NM_001116 ADCY9 EXON Missense_E810K exm1212815 16 4033436 [T/C] NM_001116 ADCY9 EXON Missense_I772M exm-rs2444217 16 4038387 [A/G] NM_001116 ADCY9 Silent exm1212818 16 4039034 [A/C] NM_001116 ADCY9 EXON Missense_Q757H exm1212829 16 4042211 [C/G] NM_001116 ADCY9 EXON Missense_L715V exm1212845 16 4057427 [A/G] NM_001116 ADCY9 EXON Missense_A609V exm2260542 16 4078744 [T/G] NM_001116 ADCY9 Silent exm-rs2601828 16 4103871 [T/C] NM_001116 ADCY9 Silent exm2267866 16 4135350 [A/G] NM_001116 ADCY9 Silent exm1212854 16 4163754 [T/G] NM_001116 ADCY9 EXON Missense_K564Q exm2252589 16 4163779 [T/G] NM_001116 ADCY9 EXON Synonymous_G555G exm1212882 16 4164738 [T/C] NM_001116 ADCY9 EXON Missense_T236A exm1212887 16 4164920 [A/G] NM_001116 ADCY9 EXON Missense_T175I exm1212890 16 4165032 [T/G] NM_001116 ADCY9 EXON Missense_M138L exm1212898 16 4165257 [A/C] NM_001116 ADCY9 EXON Missense_V63F exm1212914 16 4242186 [T/C] NM_001098814 SRL EXON Missense_E464K exm1212967 16 4253174 [C/G] NM_001098814 SRL EXON Missense_E84D exm1212971 16 4253250 [T/C] NM_001098814 SRL EXON Missense_R59Q exm1212975 16 4254629 [A/G] NM_001098814 SRL EXON Missense_T23M exm1212997 16 4310231 [G/C] NM_003223 TFAP4 EXON Missense_A228P exm1213005 16 4310517 [T/G] NM_003223 TFAP4 EXON Missense_E202A exm2224818 16 4382382 [A/G] NM_032575 GLIS2 EXON Missense_R34H exm1858318 16 4382420 [A/C] NM_032575 GLIS2 EXON Missense_P47T exm1213043 16 4383398 [T/G] NM_032575 GLIS2 EXON Missense_A75S exm1213045 16 4383414 [T/A] NM_032575 GLIS2 EXON Missense_D80V exm1858320 16 4383453 [A/G] NM_032575 GLIS2 EXON Missense_N93S exm1213052 16 4384871 [A/G] NM_032575 GLIS2 EXON Missense_G139R exm1213056 16 4384961 [A/G] NM_032575 GLIS2 EXON Missense_V169M exm1213085 16 4386960 [T/C] NM_032575 GLIS2 EXON Missense_P337L exm1213092 16 4387209 [T/C] NM_032575 GLIS2 EXON Missense_P420L exm2274809 16 4387363 [A/C] NM_032575 GLIS2 EXON Missense_S471R exm1213118 16 4390324 [A/G] NM_016069,NM_001201479 PAM16,CORO7-PAM16 EXON Missense_T125M,Missense_T1048M exm1213120 16 4390358 [T/G] NM_016069,NM_001201479 PAM16,CORO7-PAM16 EXON Missense_Q114K,Missense_Q1037K exm1213128 16 4391463 [T/C] NM_016069,NM_001201479 PAM16,CORO7-PAM16 EXON Missense_R44Q,Missense_R967Q exm1213129 16 4391473 [T/C] NM_016069,NM_001201479 PAM16,CORO7-PAM16 EXON Missense_A41T,Missense_A964T exm1213164 16 4407245 [A/C] NM_001201479,NM_001201473,NM_001201472,NM_024535 CORO7-PAM16,CORO7,CORO7,CORO7 EXON Missense_R870L,Missense_R785L,Missense_R852L,Missense_R870L exm1213165 16 4407246 [A/G] NM_001201479,NM_001201473,NM_001201472,NM_024535 CORO7-PAM16,CORO7,CORO7,CORO7 EXON Nonsense_R870X,Nonsense_R785X,Nonsense_R852X,Nonsense_R870X exm1213174 16 4408002 [A/G] NM_001201479,NM_001201473,NM_001201472,NM_024535 CORO7-PAM16,CORO7,CORO7,CORO7 EXON Missense_L854F,Missense_L769F,Missense_L836F,Missense_L854F exm1213180 16 4408366 [A/T] NM_001201479,NM_001201473,NM_001201472,NM_024535 CORO7-PAM16,CORO7,CORO7,CORO7 Silent,Silent,Silent,Silent exm1213189 16 4408462 [A/G] NM_001201479,NM_001201473,NM_001201472,NM_024535 CORO7-PAM16,CORO7,CORO7,CORO7 EXON Missense_T788M,Missense_T703M,Missense_T770M,Missense_T788M exm1213197 16 4409513 [A/G] NM_001201479,NM_001201473,NM_001201472,NM_024535 CORO7-PAM16,CORO7,CORO7,CORO7 EXON Missense_P740S,Missense_P655S,Missense_P722S,Missense_P740S exm1213205 16 4410315 [T/C] NM_001201479,NM_001201473,NM_001201472,NM_024535 CORO7-PAM16,CORO7,CORO7,CORO7 EXON Missense_C691Y,Missense_C606Y,Missense_C673Y,Missense_C691Y exm1213208 16 4410357 [C/G] NM_001201479,NM_001201473,NM_001201472,NM_024535 CORO7-PAM16,CORO7,CORO7,CORO7 EXON Missense_P677R,Missense_P592R,Missense_P659R,Missense_P677R exm1213231 16 4411211 [T/C] NM_001201479,NM_001201473,NM_001201472,NM_024535 CORO7-PAM16,CORO7,CORO7,CORO7 EXON Missense_A576T,Missense_A491T,Missense_A558T,Missense_A576T exm1213244 16 4411442 [A/G] NM_001201479,NM_001201473,NM_001201472,NM_024535 CORO7-PAM16,CORO7,CORO7,CORO7 EXON Missense_T536M,Missense_T451M,Missense_T518M,Missense_T536M exm1213265 16 4414345 [T/C] NM_001201479,NM_001201473,NM_001201472,NM_024535 CORO7-PAM16,CORO7,CORO7,CORO7 EXON Missense_A403T,Missense_A318T,Missense_A385T,Missense_A403T exm1213287 16 4414888 [T/C] NM_001201479,NM_001201473,NM_001201472,NM_024535 CORO7-PAM16,CORO7,CORO7,CORO7 EXON Missense_G311E,Missense_G226E,Missense_G293E,Missense_G311E exm1858412 16 4430910 [T/C] NM_001201479,NM_001201473,NM_001201472,NM_024535,NM_138440 CORO7-PAM16,CORO7,CORO7,CORO7,VASN EXON Silent,Silent,Silent,Silent,Missense_L11P exm1213307 16 4431026 [T/G] NM_001201479,NM_001201473,NM_001201472,NM_024535,NM_138440 CORO7-PAM16,CORO7,CORO7,CORO7,VASN EXON Silent,Silent,Silent,Silent,Missense_V50L exm1213313 16 4431105 [T/C] NM_001201479,NM_001201473,NM_001201472,NM_024535,NM_138440 CORO7-PAM16,CORO7,CORO7,CORO7,VASN EXON Silent,Silent,Silent,Silent,Missense_P76L exm1213319 16 4431158 [A/G] NM_001201479,NM_001201473,NM_001201472,NM_024535,NM_138440 CORO7-PAM16,CORO7,CORO7,CORO7,VASN EXON Silent,Silent,Silent,Silent,Missense_G94R exm1213320 16 4431159 [A/G] NM_001201479,NM_001201473,NM_001201472,NM_024535,NM_138440 CORO7-PAM16,CORO7,CORO7,CORO7,VASN EXON Silent,Silent,Silent,Silent,Missense_G94E exm1213329 16 4431282 [A/G] NM_001201479,NM_001201473,NM_001201472,NM_024535,NM_138440 CORO7-PAM16,CORO7,CORO7,CORO7,VASN EXON Silent,Silent,Silent,Silent,Missense_R135H exm1213331 16 4431315 [T/C] NM_001201479,NM_001201473,NM_001201472,NM_024535,NM_138440 CORO7-PAM16,CORO7,CORO7,CORO7,VASN EXON Silent,Silent,Silent,Silent,Missense_T146M exm1213337 16 4431360 [A/G] NM_001201479,NM_001201473,NM_001201472,NM_024535,NM_138440 CORO7-PAM16,CORO7,CORO7,CORO7,VASN EXON Silent,Silent,Silent,Silent,Missense_R161Q exm1858415 16 4431443 [G/C] NM_001201479,NM_001201473,NM_001201472,NM_024535,NM_138440 CORO7-PAM16,CORO7,CORO7,CORO7,VASN EXON Silent,Silent,Silent,Silent,Missense_L189V exm1213349 16 4431470 [T/C] NM_001201479,NM_001201473,NM_001201472,NM_024535,NM_138440 CORO7-PAM16,CORO7,CORO7,CORO7,VASN EXON Silent,Silent,Silent,Silent,Missense_R198W exm1213362 16 4431767 [T/C] NM_001201479,NM_001201473,NM_001201472,NM_024535,NM_138440 CORO7-PAM16,CORO7,CORO7,CORO7,VASN EXON Silent,Silent,Silent,Silent,Missense_R297C exm1213379 16 4432029 [A/C] NM_001201479,NM_001201473,NM_001201472,NM_024535,NM_138440 CORO7-PAM16,CORO7,CORO7,CORO7,VASN EXON Silent,Silent,Silent,Silent,Missense_E384A exm1213386 16 4432151 [T/C] NM_001201479,NM_001201473,NM_001201472,NM_024535,NM_138440 CORO7-PAM16,CORO7,CORO7,CORO7,VASN EXON Silent,Silent,Silent,Silent,Missense_R425W exm1213406 16 4432430 [A/G] NM_001201479,NM_001201473,NM_001201472,NM_024535,NM_138440 CORO7-PAM16,CORO7,CORO7,CORO7,VASN EXON Silent,Silent,Silent,Silent,Missense_A518T exm1213419 16 4432517 [A/G] NM_001201479,NM_001201473,NM_001201472,NM_024535,NM_138440 CORO7-PAM16,CORO7,CORO7,CORO7,VASN EXON Silent,Silent,Silent,Silent,Missense_E547K exm1213440 16 4438002 [A/G] NM_001201479,NM_001201473,NM_001201472,NM_024535 CORO7-PAM16,CORO7,CORO7,CORO7 EXON Missense_L257S,Missense_L172S,Missense_L239S,Missense_L257S exm1213441 16 4438038 [A/G] NM_001201479,NM_001201473,NM_001201472,NM_024535 CORO7-PAM16,CORO7,CORO7,CORO7 EXON Missense_T245M,Missense_T160M,Missense_T227M,Missense_T245M exm1213443 16 4438060 [A/G] NM_001201479,NM_001201473,NM_001201472,NM_024535 CORO7-PAM16,CORO7,CORO7,CORO7 EXON Missense_R238C,Missense_R153C,Missense_R220C,Missense_R238C exm1213445 16 4438070 [T/C] NM_001201479,NM_001201473,NM_001201472,NM_024535 CORO7-PAM16,CORO7,CORO7,CORO7 Silent,Silent,Silent,Silent exm1213448 16 4445327 [T/C] NM_001201479,NM_001201473,NM_001201472,NM_024535 CORO7-PAM16,CORO7,CORO7,CORO7 EXON Missense_R193Q,Missense_R108Q,Missense_R175Q,Missense_R193Q exm1213455 16 4455523 [T/C] NM_001201479,NM_001201473,NM_001201472,NM_024535 CORO7-PAM16,CORO7,CORO7,CORO7 EXON Missense_R178Q,Missense_R93Q,Missense_R160Q,Missense_R178Q exm1213457 16 4455535 [A/G] NM_001201479,NM_001201473,NM_001201472,NM_024535 CORO7-PAM16,CORO7,CORO7,CORO7 EXON Missense_A174V,Missense_A89V,Missense_A156V,Missense_A174V exm1213458 16 4455553 [G/C] NM_001201479,NM_001201473,NM_001201472,NM_024535 CORO7-PAM16,CORO7,CORO7,CORO7 EXON Missense_G168A,Missense_G83A,Missense_G150A,Missense_G168A exm1858452 16 4457634 [T/C] NM_001201479,NM_001201473,NM_001201472,NM_024535 CORO7-PAM16,CORO7,CORO7,CORO7 EXON Missense_G119R,Silent,Missense_G101R,Missense_G119R exm1213479 16 4462383 [T/C] NM_001201479,NM_001201473,NM_001201472,NM_024535 CORO7-PAM16,CORO7,CORO7,CORO7 EXON Missense_R69H,Missense_R69H,Missense_R69H,Missense_R69H exm1213482 16 4463315 [A/G] NM_001201479,NM_001201473,NM_001201472,NM_024535 CORO7-PAM16,CORO7,CORO7,CORO7 EXON Missense_R51C,Missense_R51C,Missense_R51C,Missense_R51C exm1213489 16 4463375 [T/C] NM_001201479,NM_001201473,NM_001201472,NM_024535 CORO7-PAM16,CORO7,CORO7,CORO7 EXON Missense_A31T,Missense_A31T,Missense_A31T,Missense_A31T exm1213498 16 4475905 [A/G] NM_005147,NM_001135110 DNAJA3,DNAJA3 EXON Missense_R8H,Missense_R8H exm1213499 16 4475911 [T/G] NM_005147,NM_001135110 DNAJA3,DNAJA3 EXON Missense_L10W,Missense_L10W exm1213500 16 4475934 [T/C] NM_005147,NM_001135110 DNAJA3,DNAJA3 EXON Missense_R18W,Missense_R18W exm1213509 16 4476045 [T/C] NM_005147,NM_001135110 DNAJA3,DNAJA3 EXON Missense_C55R,Missense_C55R exm1213513 16 4484396 [A/T] NM_005147,NM_001135110 DNAJA3,DNAJA3 EXON Missense_N75Y,Missense_N75Y exm1858473 16 4484435 [G/C] NM_005147,NM_001135110 DNAJA3,DNAJA3 EXON Missense_P88A,Missense_P88A exm1213523 16 4487486 [A/G] NM_005147,NM_001135110 DNAJA3,DNAJA3 EXON Synonymous_E143E,Synonymous_E143E exm1213525 16 4491413 [T/C] NM_005147,NM_001135110 DNAJA3,DNAJA3 EXON Missense_A156V,Missense_A156V exm1213526 16 4491416 [A/G] NM_005147,NM_001135110 DNAJA3,DNAJA3 EXON Missense_Y157C,Missense_Y157C exm1213548 16 4492414 [C/G] NM_005147,NM_001135110 DNAJA3,DNAJA3 EXON Missense_S259C,Missense_S259C exm1213557 16 4493142 [A/G] NM_005147,NM_001135110 DNAJA3,DNAJA3 EXON Missense_R303Q,Missense_R303Q exm1213558-other 16 4493164 [A/G] NM_005147,NM_001135110 DNAJA3,DNAJA3 EXON Synonymous_A310A,Synonymous_A310A exm1213558 16 4493164 [A/G] NM_005147,NM_001135110 DNAJA3,DNAJA3 EXON Synonymous_A310A,Synonymous_A310A exm1213561 16 4496909 [A/G] NM_005147,NM_001135110 DNAJA3,DNAJA3 EXON Missense_R340Q,Missense_R340Q exm1213569 16 4497014 [T/C] NM_005147,NM_001135110 DNAJA3,DNAJA3 EXON Missense_T375M,Missense_T375M exm1213583 16 4504854 [A/G] NM_005147,NM_001135110 DNAJA3,DNAJA3 EXON Missense_R461H,Silent exm1213584 16 4504868 [A/G] NM_005147,NM_001135110 DNAJA3,DNAJA3 EXON Missense_D466N,Silent exm1213602 16 4511873 [A/G] NM_020677 NMRAL1 EXON Missense_R270C exm1213606 16 4511917 [T/C] NM_020677 NMRAL1 EXON Missense_R255Q exm1213609 16 4511926 [A/G] NM_020677 NMRAL1 EXON Missense_P252L exm1858521 16 4513722 [A/G] NM_020677 NMRAL1 EXON Missense_T220M exm1213628 16 4516168 [T/C] NM_020677 NMRAL1 EXON Missense_K172R exm1213631 16 4516180 [G/C] NM_020677 NMRAL1 EXON Missense_A168G exm1213633 16 4516196 [A/T] NM_020677 NMRAL1 EXON Missense_F163I exm1858535 16 4519343 [A/G] NM_020677 NMRAL1 EXON Missense_V55A exm1213668 16 4519382 [T/G] NM_020677 NMRAL1 EXON Missense_K42T exm1858537 16 4519397 [T/C] NM_020677 NMRAL1 EXON Missense_R37Q exm1213670 16 4519398 [A/G] NM_020677 NMRAL1 EXON Nonsense_R37X exm1213671 16 4519439 [A/G] NM_020677 NMRAL1 EXON Missense_T23I exm1213672 16 4519442 [T/C] NM_020677 NMRAL1 EXON Missense_R22H exm1213684 16 4555553 [C/G] NM_001127206,NM_001127204,NM_002134,NM_001127205 HMOX2,HMOX2,HMOX2,HMOX2 EXON Missense_G10R,Missense_G10R,Missense_G10R,Missense_G10R exm1213694 16 4557003 [A/G] NM_001127206,NM_001127204,NM_002134,NM_001127205 HMOX2,HMOX2,HMOX2,HMOX2 EXON Missense_E65G,Missense_E65G,Missense_E65G,Missense_E65G exm1213697 16 4557768 [T/C] NM_001127206,NM_001127204,NM_002134,NM_001127205 HMOX2,HMOX2,HMOX2,HMOX2 EXON Missense_R87C,Missense_R87C,Missense_R87C,Missense_R87C exm1213698 16 4557811 [T/C] NM_001127206,NM_001127204,NM_002134,NM_001127205 HMOX2,HMOX2,HMOX2,HMOX2 EXON Missense_M101T,Missense_M101T,Missense_M101T,Missense_M101T exm1213703 16 4557846 [T/A] NM_001127206,NM_001127204,NM_002134,NM_001127205 HMOX2,HMOX2,HMOX2,HMOX2 EXON Missense_M113L,Missense_M113L,Missense_M113L,Missense_M113L exm1213711 16 4557949 [A/C] NM_001127206,NM_001127204,NM_002134,NM_001127205 HMOX2,HMOX2,HMOX2,HMOX2 EXON Missense_E147A,Missense_E147A,Missense_E147A,Missense_E147A exm1213725 16 4559429 [A/T] NM_001127206,NM_001127204,NM_002134,NM_001127205 HMOX2,HMOX2,HMOX2,HMOX2 EXON Missense_D238V,Missense_D238V,Missense_D238V,Missense_D238V exm1213726 16 4559434 [C/G] NM_001127206,NM_001127204,NM_002134,NM_001127205 HMOX2,HMOX2,HMOX2,HMOX2 EXON Missense_A240P,Missense_A240P,Missense_A240P,Missense_A240P exm1213734 16 4559659 [T/C] NM_001127206,NM_001127204,NM_002134,NM_001127205 HMOX2,HMOX2,HMOX2,HMOX2 EXON Nonsense_R285X,Nonsense_R285X,Nonsense_R285X,Nonsense_R285X exm1213735 16 4559660 [A/G] NM_001127206,NM_001127204,NM_002134,NM_001127205 HMOX2,HMOX2,HMOX2,HMOX2 EXON Missense_R285Q,Missense_R285Q,Missense_R285Q,Missense_R285Q exm1213736 16 4559663 [T/C] NM_001127206,NM_001127204,NM_002134,NM_001127205 HMOX2,HMOX2,HMOX2,HMOX2 EXON Missense_T286I,Missense_T286I,Missense_T286I,Missense_T286I exm1213751 16 4562947 [T/C] NM_001199055,NM_001199054,NM_001199056,NM_013399 CDIP1,CDIP1,CDIP1,CDIP1 EXON Synonymous_G81G,Synonymous_G120G,Synonymous_G41G,Synonymous_G120G exm1213755 16 4563698 [T/C] NM_001199055,NM_001199054,NM_001199056,NM_013399 CDIP1,CDIP1,CDIP1,CDIP1 EXON Synonymous_P80P,Synonymous_P80P,Silent,Synonymous_P80P exm1213765 16 4564083 [T/G] NM_001199055,NM_001199054,NM_001199056,NM_013399 CDIP1,CDIP1,CDIP1,CDIP1 EXON Missense_L17I,Missense_L17I,Missense_L17I,Missense_L17I exm1213773 16 4606605 [A/G] NM_001145011 C16orf96 EXON Missense_M39V exm1213775 16 4606635 [A/G] NM_001145011 C16orf96 EXON Missense_D49N exm1213777 16 4606678 [T/G] NM_001145011 C16orf96 EXON Missense_R63M exm1213781 16 4606743 [G/C] NM_001145011 C16orf96 EXON Missense_V85L exm1213802 16 4625470 [G/C] NM_001145011 C16orf96 EXON Missense_P330R exm1213807 16 4625790 [C/G] NM_001145011 C16orf96 EXON Missense_P437A exm1213814 16 4625931 [T/C] NM_001145011 C16orf96 EXON Missense_R484C exm1213817 16 4626169 [A/G] NM_001145011 C16orf96 EXON Missense_R563Q exm1213822 16 4626219 [A/G] NM_001145011 C16orf96 EXON Missense_A580T exm1213823 16 4626229 [T/C] NM_001145011 C16orf96 EXON Missense_S583F exm2224835 16 4626370 [A/G] NM_001145011 C16orf96 EXON Missense_R630Q exm1213828 16 4626461 [T/G] NM_001145011 C16orf96 EXON Missense_D660E exm1213842 16 4638271 [T/C] NM_001145011 C16orf96 EXON Missense_T844M exm1213849 16 4642369 [A/G] NM_001145011 C16orf96 Silent exm2224836 16 4644468 [T/C] NM_001145011 C16orf96 EXON Missense_T995M exm1213855 16 4644482 [A/G] NM_001145011 C16orf96 EXON Missense_G1000R exm1213860 16 4644766 [A/G] NM_001145011 C16orf96 EXON Missense_R1030H exm1213863 16 4644786 [A/G] NM_001145011 C16orf96 EXON Missense_V1037I exm1213865 16 4649300 [C/G] NM_001145011 C16orf96 EXON Missense_S1048C exm1213866 16 4649306 [T/C] NM_001145011 C16orf96 EXON Missense_P1050L exm1213871 16 4649366 [A/G] NM_001145011 C16orf96 Silent exm1213882 16 4659684 [G/C] NM_145253 UBALD1 EXON Missense_Q162E exm1213924 16 4700463 [C/G] NM_001142291,NM_001142289,NM_001142290,NM_015246 MGRN1,MGRN1,MGRN1,MGRN1 EXON Missense_F62L,Missense_F62L,Missense_F62L,Missense_F62L exm1213936 16 4702695 [A/G] NM_001142291,NM_001142289,NM_001142290,NM_015246 MGRN1,MGRN1,MGRN1,MGRN1 EXON Missense_D105N,Missense_D105N,Missense_D105N,Missense_D105N exm2252595 16 4702754 [T/C] NM_001142291,NM_001142289,NM_001142290,NM_015246 MGRN1,MGRN1,MGRN1,MGRN1 EXON Synonymous_F124F,Synonymous_F124F,Synonymous_F124F,Synonymous_F124F exm1213942 16 4702767 [T/C] NM_001142291,NM_001142289,NM_001142290,NM_015246 MGRN1,MGRN1,MGRN1,MGRN1 EXON Missense_R129C,Missense_R129C,Missense_R129C,Missense_R129C exm1213951 16 4707313 [T/G] NM_001142291,NM_001142289,NM_001142290,NM_015246 MGRN1,MGRN1,MGRN1,MGRN1 EXON Missense_Q170H,Missense_Q170H,Missense_Q170H,Missense_Q170H exm1213979 16 4723510 [C/G] NM_001142291,NM_001142289,NM_001142290,NM_015246 MGRN1,MGRN1,MGRN1,MGRN1 EXON Missense_D269E,Missense_D269E,Missense_D269E,Missense_D269E exm1213980 16 4723533 [A/C] NM_001142291,NM_001142289,NM_001142290,NM_015246 MGRN1,MGRN1,MGRN1,MGRN1 EXON Missense_E277A,Missense_E277A,Missense_E277A,Missense_E277A exm1213983 16 4723584 [A/G] NM_001142291,NM_001142289,NM_001142290,NM_015246 MGRN1,MGRN1,MGRN1,MGRN1 EXON Missense_R294H,Missense_R294H,Missense_R294H,Missense_R294H exm1213986 16 4723657 [T/G] NM_001142291,NM_001142289,NM_001142290,NM_015246 MGRN1,MGRN1,MGRN1,MGRN1 EXON Synonymous_L318L,Synonymous_L318L,Synonymous_L318L,Synonymous_L318L exm1214029 16 4733253 [T/C] NM_001142291,NM_001142289,NM_001142290,NM_015246 MGRN1,MGRN1,MGRN1,MGRN1 EXON Missense_S482L,Missense_S482L,Missense_S504L,Missense_S504L exm2252597 16 4734513 [T/C] NM_001142291,NM_001142289,NM_001142290,NM_015246 MGRN1,MGRN1,MGRN1,MGRN1 Silent,Silent,Silent,Silent exm1214048 16 4736295 [A/G] NM_001142291,NM_001142289,NM_001142290,NM_015246 MGRN1,MGRN1,MGRN1,MGRN1 EXON Missense_E530K,Silent,Missense_E552K,Silent exm1214060 16 4743741 [T/C] NM_032349,NM_001193452 NUDT16L1,NUDT16L1 EXON Missense_A5V,Missense_A5V exm1214080 16 4744964 [A/G] NM_032349,NM_001193452 NUDT16L1,NUDT16L1 EXON Synonymous_L140L,Missense_G164R exm1214088 16 4745024 [T/C] NM_032349,NM_001193452 NUDT16L1,NUDT16L1 EXON Synonymous_F160F,Missense_P184S exm1214089 16 4745030 [T/C] NM_032349,NM_001193452 NUDT16L1,NUDT16L1 EXON Synonymous_S162S,Nonsense_Q186X exm1214092 16 4745051 [T/C] NM_032349,NM_001193452 NUDT16L1,NUDT16L1 EXON Synonymous_A169A,Missense_X193Q exm1214093 16 4745105 [C/G] NM_032349,NM_001193452 NUDT16L1,NUDT16L1 EXON Missense_K187N,Silent exm1214097 16 4745145 [A/G] NM_032349,NM_001193452 NUDT16L1,NUDT16L1 EXON Missense_K201E,Silent exm1214098 16 4745146 [A/C] NM_032349,NM_001193452 NUDT16L1,NUDT16L1 EXON Missense_K201T,Silent exm1214103 16 4747039 [T/C] NM_133450,NM_001242929,NR_040252 ANKS3,ANKS3,ANKS3 EXON Missense_R654Q,Missense_R547Q,Silent exm1214111 16 4747343 [A/G] NM_133450,NM_001242929,NR_040252 ANKS3,ANKS3,ANKS3 EXON Missense_R629C,Missense_R522C,Silent exm1214113 16 4747373 [T/C] NM_133450,NM_001242929,NR_040252 ANKS3,ANKS3,ANKS3 EXON Missense_E619K,Missense_E512K,Silent exm1214122 16 4748043 [A/G] NM_133450,NM_001242929,NR_040252 ANKS3,ANKS3,ANKS3 EXON Missense_S582L,Missense_S475L,Silent exm1214126 16 4748458 [T/C] NM_133450,NM_001242929,NR_040252 ANKS3,ANKS3,ANKS3 EXON Missense_R565Q,Missense_R458Q,Silent exm1214133 16 4748802 [T/C] NM_133450,NM_001242929,NR_040252 ANKS3,ANKS3,ANKS3 EXON Missense_K517R,Missense_K410R,Silent exm1214140 16 4748845 [A/G] NM_133450,NM_001242929,NR_040252 ANKS3,ANKS3,ANKS3 EXON Missense_R503W,Missense_R396W,Silent exm1214143 16 4748851 [T/C] NM_133450,NM_001242929,NR_040252 ANKS3,ANKS3,ANKS3 EXON Missense_A501T,Missense_A394T,Silent exm1858999 16 4749076 [A/G] NM_133450,NM_001242929,NR_040252 ANKS3,ANKS3,ANKS3 EXON Synonymous_S462S,Synonymous_S355S,Silent exm1214153 16 4749124 [A/G] NM_133450,NM_001242929,NR_040252 ANKS3,ANKS3,ANKS3 EXON Synonymous_F446F,Synonymous_F339F,Silent exm2224853 16 4749170 [A/G] NM_133450,NM_001242929,NR_040252 ANKS3,ANKS3,ANKS3 EXON Missense_A431V,Missense_A324V,Silent exm1214167 16 4751035 [T/C] NM_133450,NM_001242929,NR_040252 ANKS3,ANKS3,ANKS3 EXON Missense_D407G,Missense_D300G,Silent exm1214168 16 4751045 [T/C] NM_133450,NM_001242929,NR_040252 ANKS3,ANKS3,ANKS3 EXON Missense_A404T,Missense_A297T,Silent exm1214169 16 4751047 [T/C] NM_133450,NM_001242929,NR_040252 ANKS3,ANKS3,ANKS3 EXON Missense_R403H,Missense_R296H,Silent exm1214179 16 4751448 [A/G] NM_133450,NM_001242929,NR_040252 ANKS3,ANKS3,ANKS3 EXON Missense_V369A,Missense_V262A,Silent exm1214186 16 4751523 [T/G] NM_133450,NM_001242929,NR_040252 ANKS3,ANKS3,ANKS3 EXON Missense_N344T,Missense_N237T,Silent exm1214198 16 4755108 [A/G] NM_133450,NM_001242929,NR_040252 ANKS3,ANKS3,ANKS3 EXON Missense_R286W,Missense_R179W,Silent exm1214202 16 4755189 [A/G] NM_133450,NM_001242929,NR_040252 ANKS3,ANKS3,ANKS3 EXON Missense_R259W,Missense_R152W,Silent exm1214211 16 4764061 [A/G] NM_133450,NM_001242929,NR_040252 ANKS3,ANKS3,ANKS3 EXON Missense_R234W,Missense_R127W,Silent exm1214214 16 4764078 [A/G] NM_133450,NM_001242929,NR_040252 ANKS3,ANKS3,ANKS3 EXON Missense_L228P,Missense_L121P,Silent exm1214221 16 4764117 [A/C] NM_133450,NM_001242929,NR_040252 ANKS3,ANKS3,ANKS3 EXON Missense_M215R,Missense_M108R,Silent exm1859075 16 4764163 [C/G] NM_133450,NM_001242929,NR_040252 ANKS3,ANKS3,ANKS3 EXON Missense_H200D,Missense_H93D,Silent exm1214228 16 4774822 [A/C] NM_133450,NM_001242929,NR_040252 ANKS3,ANKS3,ANKS3 EXON Missense_C168G,Missense_C61G,Silent exm1214233 16 4776718 [T/C] NM_133450,NM_001242929,NR_040252 ANKS3,ANKS3,ANKS3 EXON Missense_A145T,Silent,Silent exm1214249 16 4780077 [T/C] NM_133450,NM_001242929,NR_040252 ANKS3,ANKS3,ANKS3 EXON Missense_G25E,Missense_G25E,Silent exm1214252 16 4780093 [T/C] NM_133450,NM_001242929,NR_040252 ANKS3,ANKS3,ANKS3 EXON Missense_M20V,Missense_M20V,Silent exm1214253 16 4780105 [A/G] NM_133450,NM_001242929,NR_040252 ANKS3,ANKS3,ANKS3 EXON Missense_R16C,Missense_R16C,Silent exm2252599 16 4786548 [T/G] NM_139170 C16orf71 EXON Synonymous_S11S exm1214264 16 4786618 [T/C] NM_139170 C16orf71 EXON Missense_P35S exm1214273 16 4787917 [T/G] NM_139170 C16orf71 EXON Missense_W82C exm1214279 16 4790204 [C/G] NM_139170 C16orf71 EXON Missense_N109K exm1214286 16 4790304 [T/C] NM_139170 C16orf71 EXON Missense_P143S exm1859146 16 4790325 [A/G] NM_139170 C16orf71 EXON Missense_D150N exm1214291 16 4790446 [T/C] NM_139170 C16orf71 EXON Missense_S190L exm1214292 16 4790503 [T/C] NM_139170 C16orf71 EXON Missense_T209M exm1214293 16 4790526 [T/C] NM_139170 C16orf71 EXON Missense_R217W exm1214299 16 4790571 [A/G] NM_139170 C16orf71 EXON Missense_E232K exm1214300 16 4790575 [T/C] NM_139170 C16orf71 EXON Missense_A233V exm1214304 16 4790599 [T/C] NM_139170 C16orf71 EXON Missense_A241V exm1214307 16 4790653 [T/C] NM_139170 C16orf71 EXON Missense_S259L exm1214309 16 4790660 [A/G] NM_139170 C16orf71 EXON Synonymous_Q261Q exm1214311 16 4793054 [T/C] NM_139170 C16orf71 EXON Missense_A265V exm1214323 16 4793161 [A/G] NM_139170 C16orf71 EXON Missense_D301N exm1214325 16 4794873 [T/C] NM_139170 C16orf71 EXON Missense_R302C exm1214330 16 4794957 [T/C] NM_139170 C16orf71 EXON Missense_R330W exm1214331 16 4794958 [T/G] NM_139170 C16orf71 EXON Missense_R330L exm1214335 16 4796393 [A/G] NM_139170 C16orf71 EXON Missense_Q354R exm1214336 16 4796399 [T/C] NM_139170 C16orf71 EXON Missense_S356F exm1214339 16 4796443 [A/G] NM_139170 C16orf71 EXON Missense_N371D exm1214342 16 4796476 [T/C] NM_139170 C16orf71 EXON Missense_R382W exm1214353 16 4797026 [A/G] NM_139170 C16orf71 EXON Missense_R427Q exm1214366 16 4797457 [T/C] NM_139170 C16orf71 EXON Missense_P465L exm1214370 16 4797519 [A/C] NM_139170 C16orf71 EXON Missense_Q486K exm1214373 16 4797598 [T/C] NM_139170 C16orf71 EXON Missense_A512V exm1214376 16 4802420 [A/G] NM_021646 ZNF500 EXON Missense_T467M exm1214378 16 4802423 [A/G] NM_021646 ZNF500 EXON Missense_P466L exm1214379 16 4802474 [T/C] NM_021646 ZNF500 EXON Missense_G449D exm1214388 16 4802571 [G/C] NM_021646 ZNF500 EXON Missense_R417G exm1214390 16 4802585 [A/G] NM_021646 ZNF500 EXON Missense_T412I exm1214400 16 4802675 [A/G] NM_021646 ZNF500 EXON Missense_P382L exm1214407 16 4802810 [A/G] NM_021646 ZNF500 EXON Missense_T337M exm1214409 16 4802822 [G/C] NM_021646 ZNF500 EXON Missense_G333A exm2224864 16 4802874 [A/G] NM_021646 ZNF500 EXON Missense_R316W exm1214413 16 4802892 [T/C] NM_021646 ZNF500 EXON Missense_G310S exm1214431 16 4810583 [T/C] NM_021646 ZNF500 EXON Missense_V224M exm1214438 16 4812322 [A/G] NM_021646 ZNF500 EXON Missense_R205W exm1214443 16 4812572 [A/T] NM_021646 ZNF500 Silent exm1214448 16 4812620 [G/C] NM_021646 ZNF500 EXON Missense_Q184H exm1214458 16 4812705 [A/G] NM_021646 ZNF500 EXON Missense_F156S exm1214459 16 4812711 [T/C] NM_021646 ZNF500 EXON Missense_G154E exm1214465 16 4815592 [G/C] NM_021646 ZNF500 EXON Missense_R130G exm1214488 16 4815871 [A/G] NM_021646 ZNF500 EXON Missense_P37S exm1214489 16 4815881 [G/C] NM_021646 ZNF500 EXON Missense_L33F exm1214509 16 4828087 [T/C] NM_144605,NM_001154458 SEPT12,SEPT12 EXON Missense_R292H,Missense_R246H exm1214518 16 4829726 [T/A] NM_144605,NM_001154458 SEPT12,SEPT12 EXON Missense_V263D,Missense_V217D exm1214533 16 4833525 [T/C] NM_144605,NM_001154458 SEPT12,SEPT12 EXON Missense_V222I,Missense_V176I exm1214534 16 4833551 [T/C] NM_144605,NM_001154458 SEPT12,SEPT12 EXON Missense_Q213R,Missense_Q167R exm1214537 16 4833669 [T/C] NM_144605,NM_001154458 SEPT12,SEPT12 EXON Missense_R204Q,Missense_R158Q exm1214538 16 4833670 [A/G] NM_144605,NM_001154458 SEPT12,SEPT12 EXON Nonsense_R204X,Nonsense_R158X exm1214544 16 4833730 [T/A] NM_144605,NM_001154458 SEPT12,SEPT12 EXON Missense_C184S,Missense_C138S exm1214545 16 4833736 [A/G] NM_144605,NM_001154458 SEPT12,SEPT12 EXON Missense_R182W,Missense_R136W exm1214550 16 4833938 [T/C] NM_144605,NM_001154458 SEPT12,SEPT12 EXON Missense_G169E,Silent exm1214552 16 4833960 [T/C] NM_144605,NM_001154458 SEPT12,SEPT12 EXON Missense_V162M,Silent exm1859425 16 4834069 [A/G] NM_144605,NM_001154458 SEPT12,SEPT12 EXON Synonymous_C125C,Silent exm1214577 16 4837509 [T/C] NM_144605,NM_001154458 SEPT12,SEPT12 EXON Missense_M46I,Missense_M46I exm1214579 16 4837537 [T/G] NM_144605,NM_001154458 SEPT12,SEPT12 EXON Missense_D37A,Missense_D37A exm1214581 16 4837574 [T/C] NM_144605,NM_001154458 SEPT12,SEPT12 EXON Missense_E25K,Missense_E25K exm1214590 16 4847466 [A/G] NM_024589,NR_046480 ROGDI,ROGDI EXON Missense_F287L,Silent exm1214605 16 4847824 [T/C] NM_024589,NR_046480 ROGDI,ROGDI EXON Missense_R238H,Silent exm1214606 16 4847841 [A/G] NM_024589,NR_046480 ROGDI,ROGDI EXON Synonymous_F232F,Silent exm1214620 16 4848092 [C/G] NM_024589,NR_046480 ROGDI,ROGDI EXON Missense_L209V,Silent exm1214625 16 4848143 [T/C] NM_024589,NR_046480 ROGDI,ROGDI EXON Missense_V192I,Silent exm1214653 16 4851305 [C/G] NM_024589,NR_046480 ROGDI,ROGDI EXON Missense_G73A,Silent exm1214670 16 4861709 [G/C] NM_032569 GLYR1 EXON Missense_H459Q exm1214680 16 4864538 [A/G] NM_032569 GLYR1 EXON Synonymous_D339D exm1214683 16 4864570 [T/C] NM_032569 GLYR1 EXON Missense_A329T exm1214688 16 4867599 [T/A] NM_032569 GLYR1 EXON Missense_K302N exm2224877 16 4882032 [T/C] NM_032569 GLYR1 EXON Missense_R162K exm1214748 16 4902950 [G/C] NM_001079514,NM_016936 UBN1,UBN1 EXON Missense_S11C,Missense_S11C exm1214767 16 4908049 [A/C] NM_001079514,NM_016936 UBN1,UBN1 EXON Missense_A103D,Missense_A103D exm1859579 16 4908664 [A/G] NM_001079514,NM_016936 UBN1,UBN1 EXON Synonymous_A144A,Synonymous_A144A exm1214796 16 4910982 [A/G] NM_001079514,NM_016936 UBN1,UBN1 EXON Missense_R330Q,Missense_R330Q exm1214815 16 4920251 [A/G] NM_001079514,NM_016936 UBN1,UBN1 EXON Missense_R407H,Missense_R407H exm1214820 16 4920320 [A/G] NM_001079514,NM_016936 UBN1,UBN1 EXON Missense_R430Q,Missense_R430Q exm1214821 16 4920335 [A/G] NM_001079514,NM_016936 UBN1,UBN1 EXON Missense_Y435C,Missense_Y435C exm1214827 16 4920569 [T/C] NM_001079514,NM_016936 UBN1,UBN1 EXON Missense_A455V,Missense_A455V exm1214836 16 4920882 [T/C] NM_001079514,NM_016936 UBN1,UBN1 EXON Missense_R490W,Missense_R490W exm1214841 16 4921203 [T/C] NM_001079514,NM_016936 UBN1,UBN1 EXON Missense_L536P,Missense_L536P exm1214855 16 4924212 [A/G] NM_001079514,NM_016936 UBN1,UBN1 EXON Missense_E601K,Missense_E601K exm1214860 16 4924280 [C/G] NM_001079514,NM_016936 UBN1,UBN1 EXON Missense_L623F,Missense_L623F exm1859625 16 4924411 [A/G] NM_001079514,NM_016936 UBN1,UBN1 EXON Missense_R667H,Missense_R667H exm1214887 16 4924567 [T/C] NM_001079514,NM_016936 UBN1,UBN1 EXON Missense_A719V,Missense_A719V exm1214889 16 4924680 [A/C] NM_001079514,NM_016936 UBN1,UBN1 EXON Missense_S757R,Missense_S757R exm1214902 16 4924839 [A/G] NM_001079514,NM_016936 UBN1,UBN1 EXON Missense_G810S,Missense_G810S exm1214903 16 4924864 [T/C] NM_001079514,NM_016936 UBN1,UBN1 EXON Missense_T818M,Missense_T818M exm1214904 16 4924870 [T/C] NM_001079514,NM_016936 UBN1,UBN1 EXON Missense_P820L,Missense_P820L exm1214908 16 4924905 [C/G] NM_001079514,NM_016936 UBN1,UBN1 EXON Missense_A832P,Missense_A832P exm1214909 16 4924909 [T/C] NM_001079514,NM_016936 UBN1,UBN1 EXON Missense_S833F,Missense_S833F exm1214917 16 4925044 [T/C] NM_001079514,NM_016936 UBN1,UBN1 EXON Missense_S878L,Missense_S878L exm1214922 16 4925104 [T/C] NM_001079514,NM_016936 UBN1,UBN1 EXON Missense_S898F,Missense_S898F exm1214927 16 4925215 [T/C] NM_001079514,NM_016936 UBN1,UBN1 EXON Missense_P935L,Missense_P935L exm1214931 16 4925275 [T/G] NM_001079514,NM_016936 UBN1,UBN1 EXON Missense_G955V,Missense_G955V exm1859634 16 4926890 [C/G] NM_001079514,NM_016936 UBN1,UBN1 EXON Missense_V1015L,Missense_V1015L exm1214965 16 4930089 [T/C] NM_001079514,NM_016936 UBN1,UBN1 EXON Missense_S1121P,Missense_S1121P exm1214967 16 4930101 [A/G] NM_001079514,NM_016936 UBN1,UBN1 EXON Missense_G1125R,Missense_G1125R exm1214975 16 4933396 [G/C] NM_002705 PPL EXON Missense_G1754R exm1214976 16 4933403 [G/C] NM_002705 PPL EXON Missense_L1751F exm1214982 16 4933446 [T/C] NM_002705 PPL EXON Missense_R1737H exm1214989 16 4933576 [T/C] NM_002705 PPL EXON Missense_D1694N exm1214992 16 4933624 [T/C] NM_002705 PPL EXON Missense_G1678R exm1214999 16 4933690 [A/G] NM_002705 PPL EXON Missense_R1656C exm1215000 16 4933692 [T/C] NM_002705 PPL EXON Missense_R1655Q exm1215002 16 4933709 [G/C] NM_002705 PPL EXON Missense_Q1649H exm1859658 16 4933728 [A/G] NM_002705 PPL EXON Missense_V1643A exm1215005 16 4933741 [A/G] NM_002705 PPL EXON Missense_R1639C exm1215011 16 4933840 [A/T] NM_002705 PPL EXON Missense_T1606S exm1859665 16 4933917 [T/C] NM_002705 PPL EXON Missense_R1580Q exm1215017 16 4933926 [A/G] NM_002705 PPL EXON Missense_L1577P exm1215019 16 4933939 [C/G] NM_002705 PPL EXON Missense_Q1573E exm1215021 16 4933966 [T/C] NM_002705 PPL EXON Missense_E1564K exm1215026 16 4934074 [A/G] NM_002705 PPL EXON Missense_R1528C exm1215027 16 4934095 [T/C] NM_002705 PPL EXON Missense_S1521G exm1215049 16 4934286 [T/C] NM_002705 PPL EXON Missense_R1457Q exm1215066 16 4934485 [A/G] NM_002705 PPL EXON Missense_R1391W exm2274813 16 4934518 [A/G] NM_002705 PPL EXON Missense_R1380W exm1215071 16 4934542 [A/C] NM_002705 PPL EXON Missense_A1372S exm1215084 16 4934643 [T/C] NM_002705 PPL EXON Missense_R1338Q exm1215102 16 4935048 [T/C] NM_002705 PPL EXON Missense_R1203Q exm1215140 16 4935505 [T/C] NM_002705 PPL EXON Missense_K1051E exm1215148 16 4935636 [A/G] NM_002705 PPL EXON Missense_A1007V exm1215165 16 4935820 [T/G] NM_002705 PPL EXON Missense_L946M exm1215169 16 4935831 [A/G] NM_002705 PPL EXON Missense_P942L exm1215170 16 4935850 [C/G] NM_002705 PPL EXON Missense_E936Q exm1215171 16 4935864 [A/G] NM_002705 PPL EXON Missense_S931L exm1215173 16 4935877 [T/C] NM_002705 PPL EXON Missense_G927R exm1859700 16 4935912 [A/C] NM_002705 PPL EXON Missense_S915I exm1215183 16 4935985 [C/G] NM_002705 PPL EXON Missense_E891Q exm1859703 16 4936007 [A/C] NM_002705 PPL EXON Missense_N883K exm1215190 16 4937182 [G/C] NM_002705 PPL EXON Missense_R854T exm1215192 16 4937221 [A/G] NM_002705 PPL EXON Missense_A841V exm1215196 16 4938139 [A/G] NM_002705 PPL EXON Synonymous_A826A exm2252606 16 4938139 [A/G] NM_002705 PPL EXON Synonymous_A826A exm1215199 16 4938160 [T/G] NM_002705 PPL EXON Missense_R819S exm1215209 16 4939010 [C/G] NM_002705 PPL EXON Missense_A789G exm1215210 16 4939011 [A/C] NM_002705 PPL EXON Missense_A789S exm1215216 16 4940185 [T/C] NM_002705 PPL EXON Synonymous_K771K exm1215217 16 4940210 [A/G] NM_002705 PPL EXON Missense_M763T exm1859722 16 4940241 [C/G] NM_002705 PPL EXON Missense_E753Q exm1215222 16 4940266 [A/C] NM_002705 PPL EXON Missense_Q744H exm1215226 16 4940288 [T/C] NM_002705 PPL EXON Missense_R737H exm2276946 16 4940302 [A/G] NM_002705 PPL EXON Synonymous_Y732Y exm1215230 16 4940732 [T/C] NM_002705 PPL EXON Missense_R720H exm1215234 16 4940782 [G/C] NM_002705 PPL EXON Missense_E703D exm1215237 16 4940825 [T/C] NM_002705 PPL EXON Missense_R689H exm1215253 16 4941889 [A/G] NM_002705 PPL EXON Missense_H631Y exm1215263 16 4942081 [T/C] NM_002705 PPL EXON Missense_R595Q exm1215264 16 4942087 [G/C] NM_002705 PPL EXON Missense_T593S exm1215265 16 4942099 [T/C] NM_002705 PPL EXON Missense_R589Q exm1215266 16 4942123 [T/C] NM_002705 PPL EXON Missense_G581D exm1859752 16 4942126 [C/G] NM_002705 PPL EXON Missense_S580T exm1215269 16 4942154 [T/C] NM_002705 PPL EXON Missense_E571K exm1215271 16 4942165 [A/G] NM_002705 PPL EXON Missense_T567M exm1859754 16 4942171 [T/C] NM_002705 PPL EXON Missense_R565Q exm1215280 16 4943234 [T/C] NM_002705 PPL EXON Missense_E544K exm1215283 16 4943267 [T/G] NM_002705 PPL EXON Missense_L533M exm1215287 16 4943305 [T/C] NM_002705 PPL EXON Missense_R520Q exm1215292 16 4943350 [T/C] NM_002705 PPL EXON Missense_R505Q exm1215296 16 4943544 [A/C] NM_002705 PPL EXON Missense_G497V exm1215297 16 4943545 [T/C] NM_002705 PPL EXON Missense_G497R exm1215304 16 4943614 [A/G] NM_002705 PPL EXON Missense_R474W exm1215305 16 4943617 [T/C] NM_002705 PPL EXON Missense_V473M exm1215322 16 4944581 [C/G] NM_002705 PPL EXON Missense_K427N exm1215336 16 4945658 [T/G] NM_002705 PPL EXON Missense_N344K exm1215340 16 4945680 [T/C] NM_002705 PPL EXON Missense_R337H exm1215342 16 4945687 [T/G] NM_002705 PPL EXON Missense_L335M exm1215345 16 4945711 [T/C] NM_002705 PPL EXON Missense_E327K exm1215356 16 4949067 [T/C] NM_002705 PPL EXON Missense_S275G exm1215357 16 4949068 [G/C] NM_002705 PPL EXON Missense_H274Q exm1859799 16 4949111 [T/G] NM_002705 PPL EXON Missense_N260T exm1215364 16 4949240 [T/C] NM_002705 PPL EXON Missense_R251H exm1859804 16 4949261 [T/C] NM_002705 PPL EXON Missense_R244H exm1215372 16 4949345 [A/T] NM_002705 PPL EXON Missense_Q216L exm1215378 16 4950860 [T/C] NM_002705 PPL EXON Missense_E193K exm1215384 16 4951015 [A/G] NM_002705 PPL EXON Missense_H172Y exm1215395 16 4952487 [T/G] NM_002705 PPL EXON Missense_K120Q exm1215400 16 4952507 [T/C] NM_002705 PPL EXON Missense_R113H exm1215401 16 4952511 [T/C] NM_002705 PPL EXON Missense_E112K exm1215403 16 4952527 [A/G] NM_002705 PPL EXON Synonymous_D106D exm1215414 16 4954031 [T/C] NM_002705 PPL EXON Missense_R58Q exm1215418 16 4960852 [C/G] NM_002705 PPL EXON Missense_S54T exm1859881 16 4986988 [T/C] NM_002705 PPL EXON Missense_R20Q exm1215436 16 5009387 [A/G] NM_014692 SEC14L5 EXON Synonymous_A21A exm1215447 16 5038232 [A/G] NM_014692 SEC14L5 EXON Missense_N99S exm1860151 16 5040828 [T/A] NM_014692 SEC14L5 EXON Missense_S136T exm1215466 16 5041954 [T/C] NM_014692 SEC14L5 EXON Missense_P197L exm1215479 16 5046446 [C/G] NM_014692 SEC14L5 EXON Missense_E255D exm1215483 16 5046919 [T/C] NM_014692 SEC14L5 EXON Missense_R282W exm1215485 16 5046931 [T/C] NM_014692 SEC14L5 EXON Missense_R286C exm1215504 16 5053521 [C/G] NM_014692 SEC14L5 EXON Missense_G417R exm1860190 16 5057470 [T/C] NM_014692 SEC14L5 EXON Missense_R519C exm1215522 16 5058543 [T/C] NM_014692 SEC14L5 EXON Missense_P565L exm1215524 16 5058559 [C/G] NM_014692 SEC14L5 EXON Missense_S570R exm1215525 16 5058591 [A/G] NM_014692 SEC14L5 EXON Missense_G581D exm1215539 16 5061153 [A/C] NM_014692 SEC14L5 EXON Missense_P620T exm1215540 16 5061181 [T/C] NM_014692 SEC14L5 EXON Missense_P629L exm2252612 16 5061948 [T/C] NM_014692 SEC14L5 Silent exm1215557 16 5064943 [A/C] NM_014692 SEC14L5 EXON Missense_S688Y exm1215566 16 5075526 [T/C] NM_016256 NAGPA EXON Missense_A501T exm1860309 16 5075570 [T/C] NM_016256 NAGPA EXON Missense_Y486C exm1215572 16 5075633 [A/G] NM_016256 NAGPA EXON Missense_T465I exm1215585 16 5077157 [C/G] NM_016256 NAGPA EXON Missense_G440A exm1215586 16 5077160 [A/G] NM_016256 NAGPA EXON Missense_A439V exm1215587 16 5077188 [A/G] NM_016256 NAGPA EXON Missense_L430F exm1215601 16 5077891 [C/G] NM_016256 NAGPA EXON Missense_G377A exm1215611 16 5078041 [T/C] NM_016256 NAGPA EXON Missense_G356S exm1215618 16 5078124 [T/C] NM_016256 NAGPA EXON Missense_R328H exm1215619 16 5078125 [A/G] NM_016256 NAGPA EXON Missense_R328C exm1215621 16 5078160 [T/C] NM_016256 NAGPA EXON Missense_R316H exm1215634 16 5078933 [A/G] NM_016256 NAGPA EXON Missense_S290P exm1215641 16 5078989 [A/G] NM_016256 NAGPA EXON Missense_A271V exm1215652 16 5081752 [C/G] NM_016256 NAGPA EXON Missense_E226Q exm1215653 16 5081761 [T/C] NM_016256 NAGPA EXON Missense_E223K exm1215657 16 5081787 [T/C] NM_016256 NAGPA EXON Missense_N214S exm1215664 16 5081821 [T/C] NM_016256 NAGPA EXON Missense_V203M exm1215665 16 5081837 [G/C] NM_016256 NAGPA EXON Missense_Q197H exm1215675 16 5083361 [A/G] NM_016256 NAGPA EXON Missense_V152A exm1215686 16 5083833 [A/G] NM_016256,NR_038913 NAGPA,NAGPA-AS1 EXON Missense_S28L,Silent exm1215701 16 5097882 [A/G] NM_001098514,NM_152459 C16orf89,C16orf89 EXON Missense_P318S,Missense_P318S exm1215702 16 5097897 [A/G] NM_001098514,NM_152459 C16orf89,C16orf89 EXON Nonsense_R313X,Nonsense_R313X exm1215705 16 5097934 [A/C] NM_001098514,NM_152459 C16orf89,C16orf89 EXON Missense_I300M,Missense_I300M exm1215707 16 5097947 [A/G] NM_001098514,NM_152459 C16orf89,C16orf89 EXON Missense_L296S,Missense_L296S exm1215709 16 5105250 [T/G] NM_001098514,NM_152459 C16orf89,C16orf89 EXON Missense_P289T,Missense_P289T exm1215712 16 5105306 [T/C] NM_001098514,NM_152459 C16orf89,C16orf89 EXON Missense_R270Q,Missense_R270Q exm1215713 16 5105322 [T/C] NM_001098514,NM_152459 C16orf89,C16orf89 EXON Missense_D265N,Missense_D265N exm1215717 16 5106071 [T/C] NM_001098514,NM_152459 C16orf89,C16orf89 EXON Missense_D249G,Missense_D249G exm1215734 16 5108570 [A/C] NM_001098514,NM_152459 C16orf89,C16orf89 EXON Missense_R184M,Missense_R184M exm1215747 16 5110398 [A/G] NM_001098514,NM_152459 C16orf89,C16orf89 EXON Missense_P133L,Missense_P133L exm1215751 16 5112474 [A/G] NM_001098514,NM_152459 C16orf89,C16orf89 EXON Nonsense_Q104X,Nonsense_Q104X exm1215753 16 5112480 [T/C] NM_001098514,NM_152459 C16orf89,C16orf89 EXON Missense_A102T,Missense_A102T exm1215756 16 5112512 [T/C] NM_001098514,NM_152459 C16orf89,C16orf89 EXON Missense_R91H,Missense_R91H exm1215757 16 5112543 [A/G] NM_001098514,NM_152459 C16orf89,C16orf89 EXON Nonsense_Q81X,Nonsense_Q81X exm1215758 16 5112557 [T/C] NM_001098514,NM_152459 C16orf89,C16orf89 EXON Missense_R76Q,Missense_R76Q exm1215759 16 5112563 [G/C] NM_001098514,NM_152459 C16orf89,C16orf89 EXON Missense_S74T,Missense_S74T exm1215764 16 5115751 [A/C] NM_001098514,NM_152459 C16orf89,C16orf89 EXON Missense_R53S,Missense_R53S exm1215781 16 5121869 [A/G] NM_019109 ALG1 EXON Missense_V7I exm1215795 16 5122041 [A/C] NM_019109 ALG1 EXON Missense_T64N exm1215817 16 5127460 [T/G] NM_019109 ALG1 EXON Missense_F185C exm1215832 16 5128783 [A/G] NM_019109 ALG1 EXON Missense_E256K exm2224921 16 5132676 [T/C] NM_019109 ALG1 Silent exm2224922 16 5143537 [T/C] NM_201598,NM_201400 FAM86A,FAM86A EXON Missense_H63R,Missense_H63R exm2267925 16 5206420 [A/G] exm2267867 16 5525490 [A/G] exm2267926 16 5781710 [A/G] exm-rs6500744 16 6113661 [T/C] NM_018723,NM_001142333 RBFOX1,RBFOX1 Silent,Silent exm2252668 16 6554253 [A/C] NM_018723,NM_001142333 RBFOX1,RBFOX1 Silent,Silent exm2272417 16 6602397 [T/C] NM_018723,NM_001142333 RBFOX1,RBFOX1 Silent,Silent exm-rs1000192 16 6747139 [A/G] NM_018723,NM_001142333 RBFOX1,RBFOX1 Silent,Silent exm-rs12921846 16 6910385 [A/T] NM_018723,NM_001142333,NM_001142334 RBFOX1,RBFOX1,RBFOX1 Silent,Silent,Silent exm2267869 16 7161550 [A/G] NM_018723,NM_001142333,NM_001142334 RBFOX1,RBFOX1,RBFOX1 Silent,Silent,Silent exm-rs2881439 16 7283490 [T/C] NM_018723,NM_001142333,NM_001142334 RBFOX1,RBFOX1,RBFOX1 Silent,Silent,Silent exm1216005 16 7383034 [A/C] NM_018723,NM_001142333,NM_001142334,NM_145893,NM_145891,NM_145892 RBFOX1,RBFOX1,RBFOX1,RBFOX1,RBFOX1,RBFOX1 EXON Silent,Silent,Silent,Missense_P11H,Missense_P11H,Missense_P11H exm1216011 16 7383085 [T/C] NM_018723,NM_001142333,NM_001142334,NM_145893,NM_145891,NM_145892 RBFOX1,RBFOX1,RBFOX1,RBFOX1,RBFOX1,RBFOX1 EXON Silent,Silent,Silent,Missense_I28T,Missense_I28T,Missense_I28T exm-rs4787008 16 7415552 [A/G] NM_018723,NM_001142333,NM_001142334,NM_145893,NM_145891,NM_145892 RBFOX1,RBFOX1,RBFOX1,RBFOX1,RBFOX1,RBFOX1 Silent,Silent,Silent,Silent,Silent,Silent exm2252727 16 7442293 [T/C] NM_018723,NM_001142333,NM_001142334,NM_145893,NM_145891,NM_145892 RBFOX1,RBFOX1,RBFOX1,RBFOX1,RBFOX1,RBFOX1 Silent,Silent,Silent,Silent,Silent,Silent exm-rs9924951 16 7504854 [A/G] NM_018723,NM_001142333,NM_001142334,NM_145893,NM_145891,NM_145892 RBFOX1,RBFOX1,RBFOX1,RBFOX1,RBFOX1,RBFOX1 Silent,Silent,Silent,Silent,Silent,Silent exm1216013 16 7568173 [G/C] NM_018723,NM_001142333,NM_001142334,NM_145893,NM_145891,NM_145892 RBFOX1,RBFOX1,RBFOX1,RBFOX1,RBFOX1,RBFOX1 EXON Missense_P18A,Missense_P18A,Missense_P18A,Missense_P38A,Missense_P38A,Missense_P38A exm1216015 16 7568191 [T/C] NM_018723,NM_001142333,NM_001142334,NM_145893,NM_145891,NM_145892 RBFOX1,RBFOX1,RBFOX1,RBFOX1,RBFOX1,RBFOX1 EXON Missense_P24S,Missense_P24S,Missense_P24S,Missense_P44S,Missense_P44S,Missense_P44S exm1216021 16 7568258 [A/C] NM_018723,NM_001142333,NM_001142334,NM_145893,NM_145891,NM_145892 RBFOX1,RBFOX1,RBFOX1,RBFOX1,RBFOX1,RBFOX1 EXON Missense_P46H,Missense_P46H,Missense_P46H,Missense_P66H,Missense_P66H,Missense_P66H exm1216022 16 7568263 [T/C] NM_018723,NM_001142333,NM_001142334,NM_145893,NM_145891,NM_145892 RBFOX1,RBFOX1,RBFOX1,RBFOX1,RBFOX1,RBFOX1 EXON Missense_P48S,Missense_P48S,Missense_P48S,Missense_P68S,Missense_P68S,Missense_P68S exm1216025 16 7568296 [T/C] NM_018723,NM_001142333,NM_001142334,NM_145893,NM_145891,NM_145892 RBFOX1,RBFOX1,RBFOX1,RBFOX1,RBFOX1,RBFOX1 EXON Missense_P59S,Missense_P59S,Missense_P59S,Missense_P79S,Missense_P79S,Missense_P79S exm-rs1395585 16 7594958 [A/G] NM_018723,NM_001142333,NM_001142334,NM_145893,NM_145891,NM_145892 RBFOX1,RBFOX1,RBFOX1,RBFOX1,RBFOX1,RBFOX1 Silent,Silent,Silent,Silent,Silent,Silent exm2267927 16 7604361 [A/G] NM_018723,NM_001142333,NM_001142334,NM_145893,NM_145891,NM_145892 RBFOX1,RBFOX1,RBFOX1,RBFOX1,RBFOX1,RBFOX1 Silent,Silent,Silent,Silent,Silent,Silent exm1216035 16 7629828 [T/C] NM_018723,NM_001142333,NM_001142334,NM_145893,NM_145891,NM_145892 RBFOX1,RBFOX1,RBFOX1,RBFOX1,RBFOX1,RBFOX1 EXON Missense_S107F,Missense_S107F,Missense_S107F,Missense_S127F,Missense_S127F,Missense_S127F exm1216071 16 7726824 [A/G] NM_018723,NM_001142333,NM_001142334,NM_145893,NM_145891,NM_145892 RBFOX1,RBFOX1,RBFOX1,RBFOX1,RBFOX1,RBFOX1 EXON Missense_A327T,Missense_A300T,Missense_A327T,Missense_A348T,Missense_A348T,Missense_A348T exm1216084 16 7759119 [A/G] NM_018723,NM_001142333,NM_001142334,NM_145893,NM_145891,NM_145892 RBFOX1,RBFOX1,RBFOX1,RBFOX1,RBFOX1,RBFOX1 EXON Missense_G353S,Missense_G326S,Missense_G353S,Synonymous_T391T,Missense_G374S,Missense_G374S exm-rs3112740 16 7836297 [A/C] exm2267928 16 7857969 [A/G] exm2252757 16 8088550 [A/C] exm-rs9927623 16 8304438 [A/C] exm2272339 16 8305679 [T/G] exm1216096 16 8619836 [T/G] NM_001146336 TMEM114 EXON Missense_Q104K exm2225499 16 8619856 [T/G] NM_001146336 TMEM114 EXON Nonsense_S97X exm1216106 16 8620007 [A/G] NM_001146336 TMEM114 EXON Missense_P47S exm1216118 16 8719577 [A/G] NM_024109 METTL22 EXON Missense_T19A exm1216125 16 8719643 [A/G] NM_024109 METTL22 EXON Missense_V41M exm1216128 16 8719655 [A/G] NM_024109 METTL22 EXON Missense_V45I exm1216129 16 8722629 [C/G] NM_024109 METTL22 EXON Missense_W59S exm1216140 16 8722772 [A/C] NM_024109 METTL22 EXON Missense_T107P exm1216141 16 8722776 [T/G] NM_024109 METTL22 EXON Missense_G108V exm1871564 16 8722833 [C/G] NM_024109 METTL22 EXON Missense_R127T exm1216147 16 8722935 [T/C] NM_024109 METTL22 EXON Missense_A161V exm1216155 16 8729067 [T/C] NM_024109 METTL22 EXON Nonsense_R200X exm1216162 16 8729124 [A/G] NM_024109 METTL22 EXON Missense_A219T exm1216167 16 8732950 [A/G] NM_024109 METTL22 EXON Missense_V235I exm2276428 16 8735000 [C/G] NM_024109 METTL22 EXON Missense_R262T exm1216174 16 8735990 [A/G] NM_024109 METTL22 EXON Missense_K278R exm1216188 16 8736397 [A/C] NM_024109 METTL22 EXON Missense_T329P exm1216191 16 8736410 [T/C] NM_024109 METTL22 EXON Missense_S333L exm1216200 16 8738491 [A/G] NM_024109 METTL22 EXON Missense_E363G exm1216202 16 8738514 [T/C] NM_024109 METTL22 EXON Missense_R371C exm1216203 16 8738526 [A/G] NM_024109 METTL22 EXON Missense_E375K exm1216213 16 8739977 [A/G] NM_024109 METTL22 EXON Missense_I398V exm1216227 16 8829621 [T/C] NM_020686,NM_000663,NM_001127448 ABAT,ABAT,ABAT EXON Missense_R9C,Missense_R9C,Missense_R9C exm1216230 16 8829651 [T/C] NM_020686,NM_000663,NM_001127448 ABAT,ABAT,ABAT EXON Missense_R19C,Missense_R19C,Missense_R19C exm1216234 16 8839896 [A/G] NM_020686,NM_000663,NM_001127448 ABAT,ABAT,ABAT EXON Missense_V37I,Missense_V37I,Missense_V37I exm1216236 16 8839954 [A/G] NM_020686,NM_000663,NM_001127448 ABAT,ABAT,ABAT EXON Missense_Q56R,Missense_Q56R,Missense_Q56R exm2267929 16 8857749 [A/G] NM_020686,NM_000663,NM_001127448 ABAT,ABAT,ABAT Silent,Silent,Silent exm2252805 16 8858636 [T/C] NM_020686,NM_000663,NM_001127448 ABAT,ABAT,ABAT EXON Synonymous_C163C,Synonymous_C163C,Synonymous_C163C exm1216295 16 8870264 [A/G] NM_020686,NM_000663,NM_001127448 ABAT,ABAT,ABAT EXON Missense_I396V,Missense_I396V,Missense_I396V exm1216305 16 8873402 [A/G] NM_020686,NM_000663,NM_001127448 ABAT,ABAT,ABAT EXON Missense_D446N,Missense_D446N,Missense_D446N exm2272340 16 8873493 [T/C] NM_020686,NM_000663,NM_001127448 ABAT,ABAT,ABAT Silent,Silent,Silent exm1216330 16 8889886 [T/C] NM_015421 TMEM186 EXON Missense_V189I exm1216336 16 8889975 [A/G] NM_015421 TMEM186 EXON Missense_A159V exm1216339 16 8890030 [A/G] NM_015421 TMEM186 EXON Missense_R141W exm1216342 16 8890053 [A/C] NM_015421 TMEM186 EXON Missense_L133R exm1872447 16 8890104 [A/G] NM_015421 TMEM186 EXON Missense_M116T exm1216344 16 8890113 [T/G] NM_015421 TMEM186 EXON Missense_A113D exm1216352 16 8890233 [T/C] NM_015421 TMEM186 EXON Missense_R73Q exm1216353 16 8890256 [G/C] NM_015421 TMEM186 EXON Missense_I65M exm1216354 16 8890257 [T/A] NM_015421 TMEM186 EXON Missense_I65N exm1216363 16 8890357 [T/C] NM_015421 TMEM186 EXON Missense_D32N exm1216370 16 8890443 [A/G] NM_015421 TMEM186 EXON Missense_A3V exm1216376 16 8891471 [T/C] NM_015421 TMEM186 EXON Missense_M1V exm1216391 16 8895699 [T/A] NM_000303 PMM2 EXON Missense_Q37L exm1216398 16 8898700 [A/G] NM_000303 PMM2 EXON Synonymous_Q85Q exm1216399 16 8898702 [T/C] NM_000303 PMM2 Silent exm1216404 16 8900255 [T/C] NM_000303 PMM2 EXON Missense_P113L exm1216410 16 8905010 [A/G] NM_000303 PMM2 EXON Missense_R141H exm1216414 16 8905030 [A/G] NM_000303 PMM2 EXON Missense_D148N exm1872631 16 8905555 [G/C] NM_000303 PMM2 EXON Missense_L170V exm1216428 16 8906914 [A/C] NM_000303 PMM2 EXON Missense_E197A exm2225579 16 8906958 [A/G] NM_000303 PMM2 EXON Missense_M212V exm1216432 16 8941598 [G/C] NM_000303 PMM2 EXON Missense_E219D exm1216437 16 8941654 [A/G] NM_000303 PMM2 EXON Missense_R238H exm1216453 16 8949083 [T/G] NM_001042476,NM_014316 CARHSP1,CARHSP1 EXON Missense_I128L,Missense_I128L exm1216469 16 8952235 [T/C] NM_001042476,NM_014316 CARHSP1,CARHSP1 EXON Missense_G85S,Missense_G85S exm1216471 16 8952240 [A/T] NM_001042476,NM_014316 CARHSP1,CARHSP1 EXON Missense_D83V,Missense_D83V exm2252817 16 8952287 [A/G] NM_001042476,NM_014316 CARHSP1,CARHSP1 EXON Synonymous_C67C,Synonymous_C67C exm1216478 16 8952321 [T/C] NM_001042476,NM_014316 CARHSP1,CARHSP1 EXON Missense_R56Q,Missense_R56Q exm1216482 16 8953028 [T/G] NM_001042476,NM_014316 CARHSP1,CARHSP1 EXON Missense_A53E,Missense_A53E exm1216497 16 8953104 [T/C] NM_001042476,NM_014316 CARHSP1,CARHSP1 EXON Missense_E28K,Missense_E28K exm1216504 16 8953160 [A/G] NM_001042476,NM_014316 CARHSP1,CARHSP1 EXON Missense_P9L,Missense_P9L exm1216527 16 8990863 [T/G] NM_003470 USP7 EXON Missense_K938Q exm1873734 16 8997180 [T/C] NM_003470 USP7 EXON Missense_K595R exm1874016 16 9186805 [C/G] NM_014117 C16orf72 EXON Missense_S85C exm1216636 16 9196898 [A/G] NM_014117 C16orf72 EXON Missense_R122Q exm1216638 16 9196949 [A/G] NM_014117 C16orf72 EXON Missense_R139H exm1216647 16 9210603 [A/G] NM_014117 C16orf72 EXON Missense_N221S exm2264591 16 9266300 [A/C] exm-rs12325410 16 9675246 [T/G] exm2272341 16 9735857 [T/C] exm-rs17550532 16 9744095 [A/G] exm1216659 16 9857071 [T/C] NM_000833,NM_001134407,NM_001134408 GRIN2A,GRIN2A,GRIN2A EXON Missense_V1444I,Missense_V1444I,Silent exm1216661 16 9857094 [T/C] NM_000833,NM_001134407,NM_001134408 GRIN2A,GRIN2A,GRIN2A EXON Missense_N1436S,Missense_N1436S,Silent exm1216663 16 9857217 [A/G] NM_000833,NM_001134407,NM_001134408 GRIN2A,GRIN2A,GRIN2A EXON Missense_A1395V,Missense_A1395V,Missense_R1281W exm1216675 16 9857574 [G/C] NM_000833,NM_001134407,NM_001134408 GRIN2A,GRIN2A,GRIN2A EXON Missense_A1276G,Missense_A1276G,Silent exm1216677 16 9857606 [A/C] NM_000833,NM_001134407,NM_001134408 GRIN2A,GRIN2A,GRIN2A EXON Missense_Q1265H,Missense_Q1265H,Silent exm1216688 16 9857866 [A/C] NM_000833,NM_001134407,NM_001134408 GRIN2A,GRIN2A,GRIN2A EXON Missense_S1179A,Missense_S1179A,Missense_S1179A exm1216698 16 9858173 [T/G] NM_000833,NM_001134407,NM_001134408 GRIN2A,GRIN2A,GRIN2A EXON Missense_N1076K,Missense_N1076K,Missense_N1076K exm1216699 16 9858211 [T/C] NM_000833,NM_001134407,NM_001134408 GRIN2A,GRIN2A,GRIN2A EXON Missense_T1064A,Missense_T1064A,Missense_T1064A exm1216707 16 9858502 [G/C] NM_000833,NM_001134407,NM_001134408 GRIN2A,GRIN2A,GRIN2A EXON Missense_V967L,Missense_V967L,Missense_V967L exm1216709 16 9858549 [A/C] NM_000833,NM_001134407,NM_001134408 GRIN2A,GRIN2A,GRIN2A EXON Missense_G951V,Missense_G951V,Missense_G951V exm1216713 16 9858636 [A/G] NM_000833,NM_001134407,NM_001134408 GRIN2A,GRIN2A,GRIN2A EXON Missense_A922V,Missense_A922V,Missense_A922V exm1216715 16 9858738 [A/G] NM_000833,NM_001134407,NM_001134408 GRIN2A,GRIN2A,GRIN2A EXON Missense_T888M,Missense_T888M,Missense_T888M exm1874090 16 9858765 [T/C] NM_000833,NM_001134407,NM_001134408 GRIN2A,GRIN2A,GRIN2A EXON Missense_K879R,Missense_K879R,Missense_K879R exm1216716 16 9858774 [A/G] NM_000833,NM_001134407,NM_001134408 GRIN2A,GRIN2A,GRIN2A EXON Missense_I876T,Missense_I876T,Missense_I876T exm1216757 16 9934936 [T/C] NM_000833,NM_001134407,NM_001134408 GRIN2A,GRIN2A,GRIN2A EXON Missense_V452M,Missense_V452M,Missense_V452M exm1216774 16 10031838 [T/C] NM_000833,NM_001134407,NM_001134408 GRIN2A,GRIN2A,GRIN2A EXON Missense_V329I,Missense_V329I,Missense_V329I exm1216791 16 10032161 [T/C] NM_000833,NM_001134407,NM_001134408 GRIN2A,GRIN2A,GRIN2A EXON Missense_K221R,Missense_K221R,Missense_K221R exm-rs1463132 16 10183087 [T/C] NM_000833,NM_001134407,NM_001134408 GRIN2A,GRIN2A,GRIN2A Silent,Silent,Silent exm2224113 16 10273981 [G/C] NM_000833,NM_001134407,NM_001134408 GRIN2A,GRIN2A,GRIN2A EXON Missense_H96Q,Missense_H96Q,Missense_H96Q exm1216808 16 10274186 [T/G] NM_000833,NM_001134407,NM_001134408 GRIN2A,GRIN2A,GRIN2A EXON Missense_E28A,Missense_E28A,Missense_E28A exm2252418 16 10359780 [A/G] exm2272419 16 10434389 [T/C] exm2267871 16 10524165 [A/G] NM_001256160,NM_024997,NR_045816,NR_045815 ATF7IP2,ATF7IP2,ATF7IP2,ATF7IP2 Silent,Silent,Silent,Silent exm1216813 16 10524502 [T/C] NM_001256160,NM_024997,NR_045816,NR_045815 ATF7IP2,ATF7IP2,ATF7IP2,ATF7IP2 EXON Missense_R9W,Missense_R9W,Silent,Silent exm1216814 16 10524545 [A/G] NM_001256160,NM_024997,NR_045816,NR_045815 ATF7IP2,ATF7IP2,ATF7IP2,ATF7IP2 EXON Missense_R23Q,Missense_R23Q,Silent,Silent exm1216820 16 10524608 [A/G] NM_001256160,NM_024997,NR_045816,NR_045815 ATF7IP2,ATF7IP2,ATF7IP2,ATF7IP2 EXON Missense_S44N,Missense_S44N,Silent,Silent exm1216821 16 10524622 [A/G] NM_001256160,NM_024997,NR_045816,NR_045815 ATF7IP2,ATF7IP2,ATF7IP2,ATF7IP2 EXON Missense_G49S,Missense_G49S,Silent,Silent exm1216831 16 10524821 [T/C] NM_001256160,NM_024997,NR_045816,NR_045815 ATF7IP2,ATF7IP2,ATF7IP2,ATF7IP2 EXON Missense_S115L,Missense_S115L,Silent,Silent exm1216837 16 10524949 [T/C] NM_001256160,NM_024997,NR_045816,NR_045815 ATF7IP2,ATF7IP2,ATF7IP2,ATF7IP2 EXON Missense_H158Y,Missense_H158Y,Silent,Silent exm1216841 16 10525007 [T/G] NM_001256160,NM_024997,NR_045816,NR_045815 ATF7IP2,ATF7IP2,ATF7IP2,ATF7IP2 EXON Missense_V177G,Missense_V177G,Silent,Silent exm1216847 16 10525135 [T/C] NM_001256160,NM_024997,NR_045816,NR_045815 ATF7IP2,ATF7IP2,ATF7IP2,ATF7IP2 EXON Missense_C220R,Missense_C220R,Silent,Silent exm1216854 16 10527383 [A/C] NM_001256160,NM_024997,NR_045816,NR_045815 ATF7IP2,ATF7IP2,ATF7IP2,ATF7IP2 EXON Missense_S279R,Missense_S279R,Silent,Silent exm1216858 16 10527404 [A/G] NM_001256160,NM_024997,NR_045816,NR_045815 ATF7IP2,ATF7IP2,ATF7IP2,ATF7IP2 EXON Missense_M286I,Missense_M286I,Silent,Silent exm1216862 16 10527490 [C/G] NM_001256160,NM_024997,NR_045816,NR_045815 ATF7IP2,ATF7IP2,ATF7IP2,ATF7IP2 EXON Missense_T315R,Missense_T315R,Silent,Silent exm1216863 16 10531964 [A/C] NM_001256160,NM_024997,NR_045816,NR_045815 ATF7IP2,ATF7IP2,ATF7IP2,ATF7IP2 EXON Missense_H323N,Missense_H323N,Silent,Silent exm1216869 16 10534276 [A/G] NM_001256160,NM_024997,NR_045816,NR_045815 ATF7IP2,ATF7IP2,ATF7IP2,ATF7IP2 EXON Missense_N384S,Missense_N384S,Silent,Silent exm1216870 16 10534287 [T/C] NM_001256160,NM_024997,NR_045816,NR_045815 ATF7IP2,ATF7IP2,ATF7IP2,ATF7IP2 EXON Missense_P388S,Missense_P388S,Silent,Silent exm1216874 16 10551286 [A/G] NM_001256160,NM_024997,NR_045816,NR_045815 ATF7IP2,ATF7IP2,ATF7IP2,ATF7IP2 EXON Missense_I418V,Missense_I418V,Silent,Silent exm1216879 16 10551348 [T/G] NM_001256160,NM_024997,NR_045816,NR_045815 ATF7IP2,ATF7IP2,ATF7IP2,ATF7IP2 EXON Missense_I438M,Missense_I438M,Silent,Silent exm1216880 16 10551356 [A/C] NM_001256160,NM_024997,NR_045816,NR_045815 ATF7IP2,ATF7IP2,ATF7IP2,ATF7IP2 EXON Nonsense_S441X,Nonsense_S441X,Silent,Silent exm-rs13335336 16 10559263 [A/G] NM_001256160,NM_024997,NR_045816,NR_045815 ATF7IP2,ATF7IP2,ATF7IP2,ATF7IP2 Silent,Silent,Silent,Silent exm1216894 16 10567802 [G/C] NM_001256160,NM_024997,NR_045816,NR_045815 ATF7IP2,ATF7IP2,ATF7IP2,ATF7IP2 EXON Silent,Missense_S502C,Silent,Silent exm1216899 16 10574766 [T/C] NM_001256160,NM_024997,NR_045816,NR_045815 ATF7IP2,ATF7IP2,ATF7IP2,ATF7IP2 EXON Nonsense_R505X,Missense_S527L,Silent,Silent exm1216901 16 10574784 [T/C] NM_001256160,NM_024997,NR_045816,NR_045815 ATF7IP2,ATF7IP2,ATF7IP2,ATF7IP2 EXON Nonsense_Q511X,Missense_S533L,Silent,Silent exm1216902 16 10574796 [T/C] NM_001256160,NM_024997,NR_045816,NR_045815 ATF7IP2,ATF7IP2,ATF7IP2,ATF7IP2 EXON Missense_P515S,Missense_T537I,Silent,Silent exm1216904 16 10574813 [A/G] NM_001256160,NM_024997,NR_045816,NR_045815 ATF7IP2,ATF7IP2,ATF7IP2,ATF7IP2 EXON Missense_M520I,Missense_A543T,Silent,Silent exm1216907 16 10575712 [A/G] NM_001256160,NM_024997,NR_045816,NR_045815 ATF7IP2,ATF7IP2,ATF7IP2,ATF7IP2 EXON Missense_T530A,Missense_H552R,Silent,Silent exm1845504 16 10575987 [A/T] NM_001256160,NM_024997,NR_045816,NR_045815 ATF7IP2,ATF7IP2,ATF7IP2,ATF7IP2 EXON Silent,Missense_S644T,Silent,Silent exm1216917 16 10576102 [T/C] NM_001256160,NM_024997,NR_045816,NR_045815 ATF7IP2,ATF7IP2,ATF7IP2,ATF7IP2 EXON Silent,Missense_T682M,Silent,Silent exm1216926 16 10626763 [T/C] NM_001424 EMP2 EXON Missense_X168W exm1216927 16 10626769 [T/C] NM_001424 EMP2 EXON Missense_R166H exm1216929 16 10626815 [G/C] NM_001424 EMP2 EXON Missense_A151P exm1216934 16 10626869 [T/C] NM_001424 EMP2 EXON Missense_V133M exm1216935 16 10626871 [G/C] NM_001424 EMP2 EXON Missense_P132R exm1216939 16 10626905 [T/C] NM_001424 EMP2 EXON Missense_E121K exm1216957 16 10631922 [A/G] NM_001424 EMP2 EXON Missense_T60M exm-rs11074889 16 10633165 [A/G] NM_001424 EMP2 Silent exm1216963 16 10637443 [C/G] NM_001424 EMP2 EXON Missense_I51M exm1216964 16 10637445 [T/C] NM_001424 EMP2 EXON Missense_I51V exm1216966 16 10637468 [A/G] NM_001424 EMP2 EXON Missense_T43I exm1216967 16 10637509 [T/C] NM_001424 EMP2 EXON Nonsense_W29X exm1216974 16 10641405 [T/C] NM_001424 EMP2 EXON Missense_V24I exm-rs12929500 16 10692832 [A/C] exm2252421 16 10721476 [C/G] NM_144674 TEKT5 EXON Synonymous_T474T exm1216985 16 10721477 [A/G] NM_144674 TEKT5 EXON Missense_T474I exm1216988 16 10721523 [T/C] NM_144674 TEKT5 EXON Missense_N459D exm1216994 16 10721553 [A/G] NM_144674 TEKT5 EXON Missense_R449W exm1217001 16 10721594 [T/C] NM_144674 TEKT5 EXON Missense_E435G exm1217007 16 10721654 [A/G] NM_144674 TEKT5 EXON Missense_L415P exm1217009 16 10729653 [T/G] NM_144674 TEKT5 EXON Missense_N403K exm1217016 16 10729751 [C/G] NM_144674 TEKT5 EXON Missense_E371Q exm1217026 16 10769943 [A/G] NM_144674 TEKT5 EXON Missense_A320V exm1217028 16 10769958 [T/C] NM_144674 TEKT5 EXON Missense_Q315R exm1217041 16 10775857 [G/C] NM_144674 TEKT5 EXON Missense_D286H exm1217046 16 10775915 [C/G] NM_144674 TEKT5 EXON Missense_C266W exm1217048 16 10775932 [A/G] NM_144674 TEKT5 EXON Missense_C261R exm1217051 16 10775942 [C/G] NM_144674 TEKT5 EXON Missense_S257R exm1217052 16 10775949 [T/C] NM_144674 TEKT5 EXON Missense_D255G exm1217054 16 10775980 [A/C] NM_144674 TEKT5 EXON Missense_A245S exm1217060 16 10783113 [A/G] NM_144674 TEKT5 EXON Missense_M239T exm1217061 16 10783119 [A/G] NM_144674 TEKT5 EXON Missense_I237T exm1217068 16 10783842 [T/C] NM_144674 TEKT5 EXON Missense_G202E exm1217069 16 10783860 [T/C] NM_144674 TEKT5 EXON Missense_H196R exm2252422 16 10788197 [A/G] NM_144674 TEKT5 EXON Synonymous_C178C exm1217079 16 10788200 [G/C] NM_144674 TEKT5 EXON Missense_E177D exm1217080 16 10788219 [A/G] NM_144674 TEKT5 EXON Missense_T171M exm1217083 16 10788261 [T/C] NM_144674 TEKT5 EXON Missense_Y157C exm1217084 16 10788294 [A/G] NM_144674 TEKT5 EXON Missense_S146L exm1217088 16 10788331 [T/G] NM_144674 TEKT5 EXON Missense_Q134K exm1217094 16 10788405 [T/C] NM_144674 TEKT5 EXON Missense_R109Q exm1217102 16 10788445 [C/G] NM_144674 TEKT5 EXON Missense_Q96E exm1217104 16 10788465 [T/C] NM_144674 TEKT5 EXON Missense_Y89C exm1845569 16 10788513 [T/C] NM_144674 TEKT5 EXON Missense_R73Q exm1217111 16 10788550 [T/C] NM_144674 TEKT5 EXON Missense_V61I exm1217113 16 10788556 [T/C] NM_144674 TEKT5 EXON Missense_A59T exm1217117 16 10788598 [A/G] NM_144674 TEKT5 EXON Missense_R45C exm1217118 16 10788604 [T/C] NM_144674 TEKT5 EXON Missense_G43R exm1217119 16 10788624 [T/C] NM_144674 TEKT5 EXON Missense_Y36C exm1217122 16 10788652 [T/C] NM_144674 TEKT5 EXON Missense_V27I exm1217125 16 10788700 [T/C] NM_144674 TEKT5 EXON Missense_S11G exm1217127 16 10788726 [T/C] NM_144674 TEKT5 EXON Missense_E2G exm1217132 16 10837728 [A/C] NM_002484 NUBP1 EXON Missense_E3A exm1217142 16 10837913 [C/G] NM_002484 NUBP1 EXON Missense_P39A exm1217164 16 10850636 [T/C] NM_002484 NUBP1 EXON Synonymous_N150N exm1217167 16 10851756 [A/G] NM_002484 NUBP1 EXON Missense_V160M exm1217173 16 10851855 [A/G] NM_002484 NUBP1 EXON Missense_D193N exm1217179 16 10855319 [A/T] NM_002484 NUBP1 EXON Nonsense_C235X exm2252424 16 10855649 [T/C] NM_002484 NUBP1 EXON Synonymous_G251G exm1217186 16 10855650 [A/G] NM_002484 NUBP1 EXON Missense_A252T exm1217194 16 10861844 [A/G] NM_002484,NM_001079512 NUBP1,TVP23A EXON Missense_A287T,Silent exm2274814 16 10864165 [A/C] NM_001079512 TVP23A EXON Missense_K202N exm1217208 16 10867274 [T/C] NM_001079512 TVP23A EXON Missense_T117A exm1217211 16 10867291 [A/G] NM_001079512 TVP23A EXON Missense_P111L exm1217212 16 10867937 [T/C] NM_001079512 TVP23A EXON Missense_D95N exm1217218 16 10868904 [T/C] NM_001079512 TVP23A EXON Missense_V47I exm2272420 16 10880077 [T/C] NM_001079512 TVP23A Silent exm1217220 16 10911995 [G/C] NM_001079512 TVP23A EXON Missense_N18K exm1217238 16 10971206 [T/C] NM_000246 CIITA EXON Missense_R7C exm-rs4781011 16 10975311 [T/G] NM_000246 CIITA Silent exm-rs11074934 16 10979440 [T/C] NM_000246 CIITA Silent exm1217252 16 10989612 [A/G] NM_000246 CIITA EXON Missense_A96T exm1217260 16 10992784 [T/C] NM_000246 CIITA EXON Missense_H121Y exm1217261 16 10992793 [A/C] NM_000246 CIITA EXON Missense_P124T exm1217264 16 10992836 [T/C] NM_000246 CIITA EXON Missense_V138A exm1217275 16 10995907 [G/C] NM_000246 CIITA EXON Missense_T165S exm1217276 16 10995933 [A/G] NM_000246 CIITA EXON Missense_R174G exm1217282 16 10996005 [A/G] NM_000246 CIITA EXON Missense_G198S exm1845671 16 10996577 [T/C] NM_000246 CIITA EXON Missense_P231S exm1217289 16 10996598 [T/C] NM_000246 CIITA EXON Missense_H238Y exm1217293 16 10997650 [A/G] NM_000246 CIITA EXON Missense_T279A exm1217296 16 10998613 [A/C] NM_000246 CIITA EXON Missense_S317Y exm1217297 16 10998628 [T/C] NM_000246 CIITA EXON Missense_P322L exm1217313 16 11000574 [T/C] NM_000246 CIITA EXON Missense_R409W exm1217314 16 11000580 [T/C] NM_000246 CIITA EXON Missense_R411C exm1217321 16 11000778 [A/C] NM_000246 CIITA EXON Missense_L477I exm1217322 16 11000810 [G/C] NM_000246 CIITA EXON Missense_I487M exm1217325 16 11000848 [G/C] NM_000246 CIITA EXON Missense_G500A exm1217326 16 11000866 [T/C] NM_000246 CIITA EXON Missense_A506V exm1217333 16 11000940 [A/G] NM_000246 CIITA EXON Missense_G531S exm1217356 16 11001322 [G/C] NM_000246 CIITA EXON Missense_A658G exm1217358 16 11001377 [C/G] NM_000246 CIITA EXON Missense_Q676H exm1217364 16 11001421 [A/C] NM_000246 CIITA EXON Missense_A691D exm1845699 16 11001427 [A/G] NM_000246 CIITA EXON Missense_G693D exm1217387 16 11001694 [T/C] NM_000246 CIITA EXON Missense_V782A exm1217393 16 11001754 [A/G] NM_000246 CIITA EXON Missense_R802Q exm1217401 16 11001969 [T/G] NM_000246 CIITA EXON Missense_G874W exm1217407 16 11002902 [A/G] NM_000246 CIITA EXON Missense_T892A exm1217412 16 11002927 [A/G] NM_000246 CIITA EXON Missense_Q900R exm1217421 16 11004092 [A/G] NM_000246 CIITA EXON Missense_R955Q exm1217427 16 11009462 [A/G] NM_000246 CIITA EXON Missense_K975R exm1217441 16 11016049 [A/G] NM_000246 CIITA EXON Missense_V1059M exm1217444 16 11016071 [A/G] NM_000246 CIITA EXON Missense_R1066H exm2224126 16 11016264 [T/C] NM_000246 CIITA EXON Synonymous_D1078D exm1217459 16 11017111 [A/G] NM_000246 CIITA EXON Missense_S1115N exm1217493 16 11071164 [A/C] NM_015226,NM_001243403 CLEC16A,CLEC16A EXON Missense_N271H,Missense_N269H exm-rs6498142 16 11081249 [G/C] NM_015226,NM_001243403 CLEC16A,CLEC16A Silent,Silent exm1217514 16 11096980 [A/G] NM_015226,NM_001243403 CLEC16A,CLEC16A EXON Missense_R374Q,Missense_R372Q exm1217516 16 11097016 [A/G] NM_015226,NM_001243403 CLEC16A,CLEC16A EXON Missense_R386Q,Missense_R384Q exm1217522 16 11114074 [A/G] NM_015226,NM_001243403 CLEC16A,CLEC16A EXON Missense_R443H,Missense_R425H exm2224128 16 11114081 [C/G] NM_015226,NM_001243403 CLEC16A,CLEC16A EXON Missense_K445N,Missense_K427N exm1217531 16 11114170 [T/C] NM_015226,NM_001243403 CLEC16A,CLEC16A EXON Missense_T475M,Missense_T457M exm1217547 16 11136204 [A/C] NM_015226,NM_001243403 CLEC16A,CLEC16A EXON Missense_H585P,Missense_H567P exm1217557 16 11145496 [T/C] NM_015226,NM_001243403 CLEC16A,CLEC16A EXON Missense_R665W,Missense_R647W exm1217562 16 11154816 [A/G] NM_015226,NM_001243403 CLEC16A,CLEC16A EXON Missense_E685K,Missense_E667K exm-rs12708716 16 11179873 [A/G] NM_015226,NM_001243403 CLEC16A,CLEC16A Silent,Silent exm-rs12924729 16 11187783 [A/G] NM_015226,NM_001243403 CLEC16A,CLEC16A Silent,Silent exm1217583 16 11219940 [T/C] NM_015226,NM_001243403 CLEC16A,CLEC16A EXON Missense_R860C,Missense_R842C exm2252426 16 11229589 [T/C] NM_015226 CLEC16A Silent exm-rs2903692 16 11238783 [A/G] NM_015226 CLEC16A Silent exm-rs6498169 16 11249329 [A/G] NM_015226 CLEC16A Silent exm1217597 16 11260313 [A/G] NM_015226 CLEC16A EXON Missense_A904T exm1217600 16 11260343 [A/C] NM_015226 CLEC16A EXON Missense_T914P exm1217610 16 11272227 [T/C] NM_015226 CLEC16A EXON Missense_L948F exm1217611 16 11272245 [A/G] NM_015226 CLEC16A EXON Missense_I954V exm1217616 16 11272287 [A/G] NM_015226 CLEC16A EXON Missense_V968M exm1217622 16 11272330 [A/G] NM_015226 CLEC16A EXON Missense_S982N exm1217625 16 11272395 [A/G] NM_015226 CLEC16A EXON Missense_V1004I exm1217627 16 11272435 [A/G] NM_015226 CLEC16A EXON Missense_S1017N exm1217630 16 11272474 [T/C] NM_015226 CLEC16A EXON Missense_P1030L exm1845819 16 11272497 [A/G] NM_015226 CLEC16A EXON Missense_V1038M exm1217635 16 11348706 [C/G] NM_003745 SOCS1 EXON Missense_Q210H exm-rs243325 16 11354497 [T/C] exm1217662 16 11362728 [T/C] NM_005425 TNP2 EXON Missense_R131Q exm1217663 16 11362729 [A/G] NM_005425 TNP2 EXON Missense_R131W exm1217665 16 11362741 [T/C] NM_005425 TNP2 EXON Missense_K127E exm1217667 16 11362779 [T/C] NM_005425 TNP2 EXON Missense_K114R exm1217671 16 11362819 [A/G] NM_005425 TNP2 EXON Missense_R101C exm1217673 16 11362833 [A/G] NM_005425 TNP2 EXON Missense_T96I exm1217677 16 11362911 [G/C] NM_005425 TNP2 EXON Missense_S70T exm1217678 16 11362921 [T/C] NM_005425 TNP2 EXON Missense_G67S exm2274816 16 11362947 [T/A] NM_005425 TNP2 EXON Missense_N58I exm1217682 16 11362962 [A/G] NM_005425 TNP2 EXON Missense_P53L exm2224136 16 11362979 [C/G] NM_005425 TNP2 EXON Missense_Q47H exm1217685 16 11362995 [T/C] NM_005425 TNP2 EXON Missense_R42H exm-rs416603 16 11364079 [A/T] exm1217699 16 11367154 [T/C] NM_021247 PRM3 EXON Missense_R100Q exm1217706 16 11367302 [T/C] NM_021247 PRM3 EXON Missense_E51K exm1217711 16 11367446 [A/G] NM_021247 PRM3 EXON Missense_S3P exm1217737 16 11370197 [T/C] NM_002762 PRM2 EXON Missense_E11K exm1217746 16 11374994 [A/C] NM_002761 PRM1 EXON Missense_R34S exm1217750 16 11375047 [A/G] NM_002761 PRM1 EXON Missense_R17C exm1217754 16 11375073 [T/C] NM_002761 PRM1 EXON Missense_R8H exm-rs12928822 16 11403893 [T/C] exm1217772 16 11444605 [A/G] NM_152308 RMI2 EXON Missense_M134I exm1217773 16 11444609 [A/G] NM_152308 RMI2 EXON Missense_E136K exm1217777 16 11444637 [A/G] NM_152308 RMI2 EXON Missense_N145S exm-rs7203193 16 11641180 [A/G] exm1217801 16 11647492 [T/C] NM_004862,NM_001136473,NR_024320,NM_001136472 LITAF,LITAF,LITAF,LITAF EXON Missense_I92V,Missense_I92V,Silent,Missense_I92V exm2274817 16 11647497 [T/C] NM_004862,NM_001136473,NR_024320,NM_001136472 LITAF,LITAF,LITAF,LITAF EXON Missense_R90H,Missense_R90H,Silent,Missense_R90H exm1217805 16 11647525 [T/C] NM_004862,NM_001136473,NR_024320,NM_001136472 LITAF,LITAF,LITAF,LITAF EXON Missense_V81M,Missense_V81M,Silent,Missense_V81M exm1217816 16 11650441 [A/G] NM_004862,NM_001136473,NR_024320,NM_001136472 LITAF,LITAF,LITAF,LITAF EXON Missense_T49M,Missense_T49M,Silent,Missense_T49M exm-rs8049607 16 11691753 [T/C] exm2252430 16 11769948 [T/C] NM_003498 SNN EXON Synonymous_G11G exm1217827 16 11769948 [T/C] NM_003498 SNN EXON Synonymous_G11G exm1217837 16 11770178 [A/G] NM_003498 SNN EXON Missense_G88D exm1845938 16 11773222 [A/C] NM_015914 TXNDC11 EXON Missense_E902D exm1217851 16 11773230 [A/T] NM_015914 TXNDC11 EXON Missense_T900S exm2276429 16 11773325 [C/G] NM_015914 TXNDC11 EXON Missense_R868P exm1217863 16 11773410 [A/G] NM_015914 TXNDC11 EXON Nonsense_Q840X exm1217868 16 11773480 [T/G] NM_015914 TXNDC11 EXON Missense_S816R exm1217871 16 11773535 [C/G] NM_015914 TXNDC11 EXON Missense_G798A exm1217872 16 11773538 [T/C] NM_015914 TXNDC11 EXON Missense_R797Q exm1217876 16 11773598 [A/G] NM_015914 TXNDC11 EXON Missense_P777L exm2224141 16 11773629 [A/T] NM_015914 TXNDC11 EXON Missense_I767F exm1217879 16 11773662 [C/G] NM_015914 TXNDC11 EXON Missense_V756L exm1217908 16 11785354 [T/C] NM_015914 TXNDC11 EXON Missense_M564I exm1217912 16 11785455 [T/G] NM_015914 TXNDC11 EXON Missense_T531P exm1217917 16 11785583 [T/C] NM_015914 TXNDC11 EXON Missense_D488G exm1217918 16 11785595 [T/G] NM_015914 TXNDC11 EXON Missense_H484P exm1217928 16 11785747 [C/G] NM_015914 TXNDC11 EXON Missense_H433Q exm1217935 16 11785886 [T/A] NM_015914 TXNDC11 EXON Missense_E387V exm1217947 16 11792094 [A/G] NM_015914 TXNDC11 EXON Missense_R332W exm1845964 16 11792171 [T/C] NM_015914 TXNDC11 EXON Missense_R306K exm1217962 16 11794420 [T/C] NM_015914 TXNDC11 EXON Missense_D265G exm1845974 16 11824509 [T/C] NM_015914 TXNDC11 EXON Missense_N231D exm1217970 16 11824620 [T/C] NM_015914 TXNDC11 EXON Missense_I194V exm1217974 16 11829886 [T/C] NM_015914 TXNDC11 EXON Missense_R153Q exm1217997 16 11846619 [A/C] NM_014153 ZC3H7A EXON Missense_S878A exm1217999 16 11850150 [C/G] NM_014153 ZC3H7A EXON Missense_Q835H exm1218007 16 11855330 [T/C] NM_014153 ZC3H7A EXON Missense_I751V exm1218009 16 11855766 [A/G] NM_014153 ZC3H7A EXON Missense_S738L exm1218013 16 11856531 [A/G] NM_014153 ZC3H7A EXON Missense_A692V exm1218037 16 11859419 [T/C] NM_014153 ZC3H7A EXON Missense_G549S exm1846001 16 11859454 [T/C] NM_014153 ZC3H7A EXON Missense_R537Q exm2252432 16 11861367 [A/G] NM_014153 ZC3H7A EXON Synonymous_I476I exm1218049 16 11861374 [A/G] NM_014153 ZC3H7A EXON Missense_I474T exm1218052 16 11861408 [T/G] NM_014153 ZC3H7A EXON Missense_H463N exm1218063 16 11864657 [T/C] NM_014153 ZC3H7A EXON Missense_M364V exm1218064 16 11864756 [T/C] NM_014153 ZC3H7A EXON Missense_I331V exm1218072 16 11868093 [A/G] NM_014153 ZC3H7A EXON Missense_M301T exm1218077 16 11868211 [T/C] NM_014153 ZC3H7A EXON Missense_N262D exm1218086 16 11868869 [A/C] NM_014153 ZC3H7A EXON Missense_A196S exm1218107 16 11873156 [T/C] NM_014153 ZC3H7A EXON Missense_D58N exm1218116 16 11876203 [T/C] NM_014153 ZC3H7A EXON Missense_N3S exm2267930 16 11887629 [A/G] NM_014153 ZC3H7A Silent exm2264592 16 11930337 [A/C] NM_015659 RSL1D1 EXON Silent exm1846039 16 11931682 [T/C] NM_015659 RSL1D1 EXON Missense_K479E exm1218133 16 11933553 [T/C] NM_015659 RSL1D1 EXON Missense_E382G exm1218136 16 11933656 [A/G] NM_015659 RSL1D1 EXON Missense_R348C exm1218141 16 11933743 [A/C] NM_015659 RSL1D1 EXON Missense_D319Y exm1218142 16 11933760 [A/G] NM_015659 RSL1D1 EXON Missense_A313V exm1846061 16 11935770 [A/C] NM_015659 RSL1D1 EXON Missense_L241F exm1218166 16 11940409 [T/C] NM_015659 RSL1D1 EXON Missense_N195S exm1218175 16 11940693 [G/C] NM_015659 RSL1D1 EXON Missense_S131C exm1218181 16 11941598 [T/C] NM_015659 RSL1D1 EXON Missense_N104S exm1218182 16 11941607 [T/C] NM_015659 RSL1D1 EXON Missense_D101G exm1218189 16 11941661 [A/G] NM_015659 RSL1D1 EXON Missense_T83I exm1218191 16 11944161 [T/G] NM_015659 RSL1D1 EXON Missense_P74T exm1218203 16 11945338 [A/G] NM_015659 RSL1D1 EXON Missense_S11F exm1218205 16 11945350 [A/G] NM_015659 RSL1D1 EXON Missense_A7V exm1218211 16 11945363 [A/C] NM_015659 RSL1D1 EXON Missense_D3Y exm1218226 16 11976937 [T/C] NM_002094,NM_001130006,NM_001130007 GSPT1,GSPT1,GSPT1 EXON Missense_V455I,Missense_V454I,Missense_V317I exm1218229 16 11979087 [T/C] NM_002094,NM_001130006,NM_001130007 GSPT1,GSPT1,GSPT1 EXON Missense_N433S,Missense_N432S,Missense_N295S exm1218243 16 11990496 [T/C] NM_002094,NM_001130006,NM_001130007 GSPT1,GSPT1,GSPT1 EXON Missense_I195V,Missense_I194V,Missense_I57V exm-rs7185307 16 12046899 [T/C] exm1218281 16 12059278 [T/C] NM_001192 TNFRSF17 EXON Missense_P33S exm1218282 16 12060076 [T/C] NM_001192 TNFRSF17 EXON Missense_T52M exm1218283 16 12060082 [T/C] NM_001192 TNFRSF17 EXON Missense_A54V exm1218284 16 12060097 [A/G] NM_001192 TNFRSF17 EXON Missense_C59Y exm1218286 16 12060114 [A/G] NM_001192 TNFRSF17 EXON Missense_I65V exm1218289 16 12060163 [A/G] NM_001192 TNFRSF17 EXON Missense_N81S exm1218293 16 12061512 [C/G] NM_001192 TNFRSF17 EXON Nonsense_Y121X exm1218294 16 12061514 [T/C] NM_001192 TNFRSF17 EXON Missense_T122M exm1218302 16 12061606 [A/G] NM_001192 TNFRSF17 EXON Missense_A153T exm1846146 16 12136831 [A/G] NM_032167 SNX29 EXON Missense_A109T exm1218398 16 12162944 [G/C] NM_032167 SNX29 EXON Missense_T425R exm1218432 16 12450134 [T/C] NM_032167 SNX29 EXON Missense_P633S exm1218433 16 12450136 [A/G] NM_032167 SNX29 EXON Synonymous_P633P exm2264608 16 12482789 [A/C] NM_032167 SNX29 Silent exm1218446 16 12571650 [G/C] NM_032167 SNX29 EXON Missense_K704N exm1218452 16 12618598 [A/G] NM_032167 SNX29 EXON Missense_N740D exm-rs11863694 16 12653862 [A/G] NM_032167 SNX29 Silent exm2267872 16 12657321 [A/G] NM_032167 SNX29 Silent exm1218465 16 12662395 [A/G] NM_032167 SNX29 EXON Missense_S784N exm1218467 16 12662398 [A/G] NM_032167 SNX29 EXON Missense_R785Q exm1218468 16 12662400 [A/C] NM_032167 SNX29 EXON Missense_P786T exm1218473 16 12662434 [A/G] NM_032167 SNX29 EXON Missense_R797Q exm1218474 16 12662448 [A/G] NM_032167 SNX29 EXON Missense_E802K exm1218490 16 12758816 [T/C] NM_018340,NM_001099455 CPPED1,CPPED1 EXON Missense_R291Q,Missense_R149Q exm1218497 16 12758859 [T/C] NM_018340,NM_001099455 CPPED1,CPPED1 EXON Missense_G277R,Missense_G135R exm1218498 16 12758931 [T/C] NM_018340,NM_001099455 CPPED1,CPPED1 EXON Missense_G253R,Missense_G111R exm1218500 16 12758966 [T/C] NM_018340,NM_001099455 CPPED1,CPPED1 EXON Missense_K241R,Missense_K99R exm1218508 16 12798554 [T/G] NM_018340,NM_001099455 CPPED1,CPPED1 EXON Missense_D214E,Silent exm1218512 16 12798607 [A/G] NM_018340,NM_001099455 CPPED1,CPPED1 EXON Missense_C197R,Silent exm1218513 16 12798612 [T/C] NM_018340,NM_001099455 CPPED1,CPPED1 EXON Missense_R195Q,Silent exm1846494 16 12798622 [T/C] NM_018340,NM_001099455 CPPED1,CPPED1 EXON Missense_A192T,Silent exm1218515 16 12798661 [A/G] NM_018340,NM_001099455 CPPED1,CPPED1 EXON Nonsense_Q179X,Silent exm1218518 16 12798724 [T/C] NM_018340,NM_001099455 CPPED1,CPPED1 EXON Missense_V158I,Silent exm1218524 16 12798844 [A/C] NM_018340,NM_001099455 CPPED1,CPPED1 EXON Missense_A118S,Silent exm1218526 16 12798867 [T/C] NM_018340,NM_001099455 CPPED1,CPPED1 EXON Missense_R110Q,Silent exm1218528 16 12798882 [A/G] NM_018340,NM_001099455 CPPED1,CPPED1 EXON Missense_T105M,Silent exm1218531 16 12798902 [A/C] NM_018340,NM_001099455 CPPED1,CPPED1 EXON Missense_K98N,Silent exm2224171 16 12875075 [T/C] NM_018340,NM_001099455 CPPED1,CPPED1 EXON Missense_V86I,Missense_V86I exm1218538 16 12875117 [T/C] NM_018340,NM_001099455 CPPED1,CPPED1 EXON Missense_V72I,Missense_V72I exm1218540 16 12875144 [G/C] NM_018340,NM_001099455 CPPED1,CPPED1 EXON Missense_Q63E,Missense_Q63E exm1218541 16 12875153 [T/C] NM_018340,NM_001099455 CPPED1,CPPED1 EXON Missense_E60K,Missense_E60K exm1218543 16 12875164 [T/C] NM_018340,NM_001099455 CPPED1,CPPED1 EXON Missense_N56S,Missense_N56S exm1218544 16 12875200 [T/C] NM_018340,NM_001099455 CPPED1,CPPED1 EXON Missense_G44E,Missense_G44E exm1218547 16 12875240 [T/C] NM_018340,NM_001099455 CPPED1,CPPED1 EXON Missense_G31S,Missense_G31S exm1218572 16 13002359 [T/C] NM_001145205,NM_001145204 SHISA9,SHISA9 EXON Missense_M196T,Silent exm1218576 16 13002415 [A/G] NM_001145205,NM_001145204 SHISA9,SHISA9 EXON Missense_G215R,Silent exm-rs7192086 16 13061611 [T/A] NM_001145204 SHISA9 Silent exm2252439 16 13090833 [A/C] NM_001145204 SHISA9 Silent exm2267931 16 13179016 [A/G] NM_001145204 SHISA9 Silent exm-rs153091 16 13253956 [T/G] NM_001145204 SHISA9 Silent exm-rs8059366 16 13351740 [T/C] exm2267873 16 13489119 [A/G] exm-rs2113334 16 13976356 [T/C] exm2224187 16 14014141 [A/G] NM_005236 ERCC4 EXON Missense_G40D exm1218605 16 14015891 [T/C] NM_005236 ERCC4 EXON Missense_Y71H exm1218606 16 14015897 [A/G] NM_005236 ERCC4 EXON Missense_I73V exm1218621 16 14020561 [T/G] NM_005236 ERCC4 EXON Missense_V178L exm1218626 16 14022003 [A/G] NM_005236 ERCC4 EXON Missense_A235T exm1218635 16 14024708 [T/G] NM_005236 ERCC4 EXON Missense_S312A exm1218642 16 14026142 [A/G] NM_005236 ERCC4 EXON Missense_E368K exm1218644 16 14028081 [T/C] NM_005236 ERCC4 EXON Missense_P379S exm1218646 16 14029033 [A/G] NM_005236 ERCC4 EXON Missense_R415Q exm2224190 16 14029204 [T/C] NM_005236 ERCC4 EXON Missense_P472L exm1218662 16 14029277 [T/A] NM_005236 ERCC4 EXON Missense_Q496H exm1218681 16 14029554 [T/C] NM_005236 ERCC4 EXON Missense_R589W exm1218682 16 14029591 [A/C] NM_005236 ERCC4 EXON Missense_K601T exm-rs3136202 16 14038174 [A/G] NM_005236 ERCC4 Silent exm1218692 16 14038659 [T/C] NM_005236 ERCC4 EXON Missense_S662P exm1218697 16 14041570 [T/C] NM_005236 ERCC4 EXON Missense_I706T exm1218701 16 14041714 [A/G] NM_005236 ERCC4 EXON Missense_R754H exm1218706 16 14041767 [T/C] NM_005236 ERCC4 EXON Nonsense_R772X exm1218708 16 14041848 [T/C] NM_005236 ERCC4 EXON Missense_R799W exm1218721 16 14042032 [A/C] NM_005236 ERCC4 EXON Missense_A860D exm1218723 16 14042070 [A/G] NM_005236 ERCC4 EXON Missense_I873V exm1218730 16 14042130 [A/G] NM_005236 ERCC4 EXON Missense_N893D exm1846829 16 14042187 [A/G] NM_005236 ERCC4 EXON Missense_G912R exm2260511 16 14205744 [A/C] NM_014048 MKL2 Silent exm2274820 16 14234477 [A/G] NM_014048 MKL2 EXON Missense_G5E exm1218758 16 14311066 [T/G] NM_014048 MKL2 EXON Missense_A146S exm2224199 16 14328066 [C/G] NM_014048 MKL2 EXON Missense_P253A exm1218776 16 14334112 [A/C] NM_014048 MKL2 EXON Missense_P284T exm1218777 16 14334126 [A/C] NM_014048 MKL2 EXON Missense_H288Q exm1846920 16 14339396 [A/G] NM_014048 MKL2 EXON Missense_D364G exm1218801 16 14340450 [T/G] NM_014048 MKL2 EXON Missense_G445C exm1218808 16 14340678 [A/G] NM_014048 MKL2 EXON Missense_N521D exm1846926 16 14340885 [A/C] NM_014048 MKL2 EXON Missense_Q590K exm1218820 16 14341009 [A/T] NM_014048 MKL2 EXON Missense_H631L exm1846927 16 14341011 [A/G] NM_014048 MKL2 EXON Missense_G632S exm1218823 16 14341047 [T/C] NM_014048 MKL2 EXON Missense_L644F exm1218824 16 14341056 [T/C] NM_014048 MKL2 EXON Missense_C647R exm1218827 16 14341146 [C/G] NM_014048 MKL2 EXON Missense_A677P exm1218836 16 14345730 [C/G] NM_014048 MKL2 EXON Missense_N755K exm1218844 16 14346252 [T/G] NM_014048 MKL2 EXON Missense_V816F exm1218846 16 14346255 [A/G] NM_014048 MKL2 EXON Missense_V817I exm1218849 16 14346285 [A/G] NM_014048 MKL2 EXON Missense_A827T exm1218851 16 14346306 [T/C] NM_014048 MKL2 EXON Missense_R834C exm1218855 16 14346354 [A/C] NM_014048 MKL2 EXON Missense_P850T exm-rs1659127 16 14388305 [A/G] exm2272344 16 14428853 [T/C] exm1218879 16 14530603 [T/C] NM_002582,NM_001242992,NM_001134477 PARN,PARN,PARN EXON Missense_T631A,Missense_T585A,Missense_T570A exm1218882 16 14530620 [A/G] NM_002582,NM_001242992,NM_001134477 PARN,PARN,PARN EXON Missense_S625L,Missense_S579L,Missense_S564L exm1218889 16 14540824 [A/C] NM_002582,NM_001242992,NM_001134477 PARN,PARN,PARN EXON Missense_D595E,Missense_D549E,Missense_D534E exm1218892 16 14540848 [A/G] NM_002582,NM_001242992,NM_001134477 PARN,PARN,PARN EXON Synonymous_S587S,Synonymous_S541S,Synonymous_S526S exm1218893 16 14540868 [T/C] NM_002582,NM_001242992,NM_001134477 PARN,PARN,PARN EXON Missense_G581R,Missense_G535R,Missense_G520R exm1218896 16 14540918 [A/G] NM_002582,NM_001242992,NM_001134477 PARN,PARN,PARN EXON Missense_V564A,Missense_V518A,Missense_V503A exm1218897 16 14540919 [T/C] NM_002582,NM_001242992,NM_001134477 PARN,PARN,PARN EXON Missense_V564I,Missense_V518I,Missense_V503I exm1218904 16 14576672 [T/C] NM_002582,NM_001242992,NM_001134477 PARN,PARN,PARN EXON Missense_S498N,Missense_S452N,Missense_S437N exm1846999 16 14649532 [C/G] NM_002582,NM_001242992,NM_001134477 PARN,PARN,PARN EXON Missense_L433V,Missense_L387V,Missense_L372V exm1218914 16 14676079 [T/C] NM_002582,NM_001242992,NM_001134477 PARN,PARN,PARN EXON Missense_Y384C,Missense_Y338C,Missense_Y323C exm1218915 16 14676099 [A/G] NM_002582,NM_001242992,NM_001134477 PARN,PARN,PARN EXON Synonymous_H377H,Synonymous_H331H,Synonymous_H316H exm1218916 16 14676128 [T/A] NM_002582,NM_001242992,NM_001134477 PARN,PARN,PARN EXON Missense_S368C,Missense_S322C,Missense_S307C exm1218917 16 14676129 [T/C] NM_002582,NM_001242992,NM_001134477 PARN,PARN,PARN EXON Synonymous_P367P,Synonymous_P321P,Synonymous_P306P exm1218922 16 14678633 [T/C] NM_002582,NM_001242992,NM_001134477 PARN,PARN,PARN EXON Synonymous_K326K,Synonymous_K280K,Synonymous_K265K exm1218925 16 14687159 [A/G] NM_002582,NM_001242992,NM_001134477 PARN,PARN,PARN EXON Missense_A306V,Missense_A260V,Missense_A245V exm1218929 16 14693761 [T/C] NM_002582,NM_001242992,NM_001134477 PARN,PARN,PARN EXON Synonymous_S280S,Synonymous_S234S,Synonymous_S219S exm1218948 16 14704573 [T/C] NM_002582,NM_001242992,NM_001134477 PARN,PARN,PARN EXON Missense_Y161C,Missense_Y115C,Missense_Y100C exm1218968 16 14738258 [T/C] NM_016561 BFAR EXON Missense_P19S exm1218969 16 14738273 [A/G] NM_016561 BFAR EXON Missense_G24S exm1847047 16 14738316 [A/G] NM_016561 BFAR EXON Missense_Y38C exm1218977 16 14742276 [A/G] NM_016561 BFAR EXON Missense_I99V exm1218981 16 14742400 [T/G] NM_016561 BFAR EXON Missense_M140R exm1218982 16 14742423 [A/G] NM_016561 BFAR EXON Missense_V148M exm1847054 16 14743700 [A/G] NM_016561 BFAR EXON Missense_E170K exm1218995 16 14749018 [A/G] NM_016561 BFAR EXON Missense_R245H exm1218996 16 14749020 [A/G] NM_016561 BFAR EXON Missense_V246I exm1218998 16 14749035 [A/G] NM_016561 BFAR EXON Missense_V251M exm1219007 16 14755908 [A/G] NM_016561 BFAR EXON Missense_V315I exm2252446 16 14758743 [A/G] NM_016561 BFAR EXON Synonymous_T325T exm1219016 16 14761632 [A/T] NM_016561 BFAR EXON Missense_N434I exm1219022 16 14766480 [A/G] NM_003561 PLA2G10 EXON Missense_S161L exm2224224 16 15098057 [T/G] NM_015027 PDXDC1 EXON Nonsense_G86X exm2224225 16 15098060 [T/G] NM_015027 PDXDC1 EXON Nonsense_E87X exm2224228 16 15098125 [T/G] NM_015027 PDXDC1 EXON Missense_E108D exm2224229 16 15098128 [T/G] NM_015027 PDXDC1 EXON Missense_K109N exm1219228 16 15103580 [T/C] NM_015027 PDXDC1 EXON Nonsense_R231X exm1219262 16 15122745 [T/A] NM_015027 PDXDC1 EXON Missense_F405L exm1219275 16 15122818 [T/C] NM_015027 PDXDC1 EXON Missense_R430C exm2224232 16 15125627 [A/G] NM_015027 PDXDC1 EXON Missense_V479I exm1219288 16 15126744 [A/G] NM_015027 PDXDC1 EXON Missense_S533N exm1219292 16 15127191 [A/G] NM_015027 PDXDC1 EXON Missense_V583I exm2224233 16 15127194 [A/G] NM_015027 PDXDC1 EXON Missense_D584N exm1219320 16 15129927 [A/G] NM_015027 PDXDC1 EXON Missense_S721N exm-rs7200543 16 15129970 [A/G] NM_015027 PDXDC1 EXON Synonymous_L735L exm1847321 16 15130097 [A/C] NM_015027 PDXDC1 EXON Missense_H778N exm1219337 16 15130116 [T/C] NM_015027 PDXDC1 EXON Missense_P784L exm1219341 16 15131962 [A/G] NM_001270766,NM_001270767,NM_173474 NTAN1,NTAN1,NTAN1 EXON Missense_S182P,Missense_S182P,Missense_S287P exm1219342 16 15131974 [T/G] NM_001270766,NM_001270767,NM_173474 NTAN1,NTAN1,NTAN1 EXON Missense_H178N,Missense_H178N,Missense_H283N exm1219345 16 15132019 [T/C] NM_001270766,NM_001270767,NM_173474 NTAN1,NTAN1,NTAN1 EXON Missense_I163V,Missense_I163V,Missense_I268V exm1219348 16 15132445 [T/C] NM_001270766,NM_001270767,NM_173474 NTAN1,NTAN1,NTAN1 EXON Missense_K142E,Missense_K142E,Missense_K247E exm1219363 16 15134955 [T/C] NM_001270766,NM_001270767,NM_173474 NTAN1,NTAN1,NTAN1 EXON Missense_E66K,Missense_E66K,Missense_E171K exm1219369 16 15138226 [G/C] NM_001270766,NM_001270767,NM_173474 NTAN1,NTAN1,NTAN1 EXON Missense_R28T,Missense_R28T,Missense_R133T exm1219388 16 15155630 [T/C] NM_018427 RRN3 EXON Missense_V643M exm1219417 16 15168667 [T/C] NM_018427 RRN3 EXON Missense_D304N exm1219419 16 15168673 [A/G] NM_018427 RRN3 EXON Missense_R302W exm1219457 16 15188025 [G/C] NM_018427 RRN3 EXON Missense_K22N exm2260513 16 15235820 [T/C] exm1219489 16 15494707 [C/G] NM_173803,NM_001128423 MPV17L,MPV17L EXON Silent,Missense_T125S exm1219502 16 15501691 [T/G] NM_173803,NM_001128423 MPV17L,MPV17L EXON Missense_D107E,Missense_M131R exm1219504 16 15501701 [T/C] NM_173803,NM_001128423 MPV17L,MPV17L EXON Missense_L111F,Synonymous_P134P exm2267874 16 15548310 [A/G] NM_033201 C16orf45 Silent exm-rs153782 16 15601620 [T/C] NM_033201,NM_001142469 C16orf45,C16orf45 Silent,Silent exm1219546 16 15609204 [T/C] NM_033201,NM_001142469 C16orf45,C16orf45 EXON Missense_P50L,Missense_P33L exm1219560 16 15661871 [A/G] NM_033201,NM_001142469 C16orf45,C16orf45 EXON Missense_M88V,Missense_M71V exm1219562 16 15675085 [A/T] NM_033201,NM_001142469 C16orf45,C16orf45 EXON Missense_T106S,Missense_T89S exm1219564 16 15677025 [A/C] NM_033201,NM_001142469 C16orf45,C16orf45 EXON Missense_E144D,Missense_E127D exm1219568 16 15677087 [T/C] NM_033201,NM_001142469 C16orf45,C16orf45 EXON Missense_S165F,Missense_S148F exm1847585 16 15690711 [A/G] NM_001184998,NM_001184999,NM_014647 KIAA0430,KIAA0430,KIAA0430 EXON Missense_S1690P,Missense_S1687P,Missense_S1690P exm1219586 16 15690753 [T/C] NM_001184998,NM_001184999,NM_014647 KIAA0430,KIAA0430,KIAA0430 EXON Missense_I1676V,Missense_I1673V,Missense_I1676V exm1219593 16 15692831 [T/C] NM_001184998,NM_001184999,NM_014647 KIAA0430,KIAA0430,KIAA0430 EXON Missense_V1622I,Missense_V1619I,Missense_V1622I exm1219609 16 15695877 [T/C] NM_001184998,NM_001184999,NM_014647 KIAA0430,KIAA0430,KIAA0430 EXON Missense_V1533M,Missense_V1530M,Missense_V1533M exm1219613 16 15696017 [G/C] NM_001184998,NM_001184999,NM_014647 KIAA0430,KIAA0430,KIAA0430 EXON Missense_S1486T,Missense_S1483T,Missense_S1486T exm1219629 16 15703380 [T/C] NM_001184998,NM_001184999,NM_014647 KIAA0430,KIAA0430,KIAA0430 EXON Synonymous_Q1318Q,Synonymous_Q1315Q,Synonymous_Q1318Q exm1219630 16 15703403 [T/C] NM_001184998,NM_001184999,NM_014647 KIAA0430,KIAA0430,KIAA0430 EXON Missense_E1311K,Missense_E1308K,Missense_E1311K exm1219641 16 15703534 [A/G] NM_001184998,NM_001184999,NM_014647 KIAA0430,KIAA0430,KIAA0430 EXON Missense_V1267A,Missense_V1264A,Missense_V1267A exm1219674 16 15715624 [T/A] NM_001184998,NM_001184999,NM_014647 KIAA0430,KIAA0430,KIAA0430 EXON Missense_T869S,Missense_T866S,Missense_T869S exm1219675 16 15715636 [C/G] NM_001184998,NM_001184999,NM_014647 KIAA0430,KIAA0430,KIAA0430 EXON Missense_V865L,Missense_V862L,Missense_V865L exm1219691 16 15718879 [C/G] NM_001184998,NM_001184999,NM_014647 KIAA0430,KIAA0430,KIAA0430 EXON Missense_S701T,Missense_S699T,Missense_S702T exm1219707 16 15719356 [T/C] NM_001184998,NM_001184999,NM_014647 KIAA0430,KIAA0430,KIAA0430 EXON Missense_K608R,Missense_K606R,Missense_K609R exm1219719 16 15725238 [T/C] NM_001184998,NM_001184999,NM_014647 KIAA0430,KIAA0430,KIAA0430 EXON Missense_T451A,Missense_T448A,Missense_T451A exm1219723 16 15725337 [T/C] NM_001184998,NM_001184999,NM_014647 KIAA0430,KIAA0430,KIAA0430 EXON Missense_N418D,Missense_N415D,Missense_N418D exm1219733 16 15728682 [A/G] NM_001184998,NM_001184999,NM_014647 KIAA0430,KIAA0430,KIAA0430 EXON Missense_T313I,Missense_T313I,Missense_T313I exm1219737 16 15729650 [T/C] NM_001184998,NM_001184999,NM_014647 KIAA0430,KIAA0430,KIAA0430 EXON Missense_G232R,Missense_G232R,Missense_G232R exm1847682 16 15729838 [A/G] NM_001184998,NM_001184999,NM_014647 KIAA0430,KIAA0430,KIAA0430 EXON Missense_L169S,Missense_L169S,Missense_L169S exm1219762 16 15732969 [A/G] NM_001184998,NM_001184999,NM_014647 KIAA0430,KIAA0430,KIAA0430 EXON Missense_T41M,Missense_T41M,Missense_T41M exm1219767 16 15733076 [G/C] NM_001184998,NM_001184999,NM_014647 KIAA0430,KIAA0430,KIAA0430 EXON Missense_N5K,Missense_N5K,Missense_N5K exm1219768 16 15733081 [T/C] NM_001184998,NM_001184999,NM_014647 KIAA0430,KIAA0430,KIAA0430 EXON Missense_G4R,Missense_G4R,Missense_G4R exm1219778 16 15761154 [T/C] NM_001143979,NM_017668 NDE1,NDE1 EXON Missense_T32M,Missense_T32M exm1219784 16 15761274 [A/G] NM_001143979,NM_017668 NDE1,NDE1 EXON Missense_R72H,Missense_R72H exm1219805 16 15785178 [A/G] NM_001143979,NM_017668 NDE1,NDE1 EXON Missense_R234H,Missense_R234H exm1219846 16 15797967 [T/A] NM_001143979,NM_017668,NM_001040113,NM_001040114,NM_002474,NM_022844 NDE1,NDE1,MYH11,MYH11,MYH11,MYH11 EXON Silent,Silent,Silent,Missense_T1941S,Missense_T1934S,Silent exm2252452 16 15802334 [T/C] NM_001143979,NM_017668,NM_001040113,NM_001040114,NM_002474,NM_022844 NDE1,NDE1,MYH11,MYH11,MYH11,MYH11 Silent,Silent,Silent,Silent,Silent,Silent exm2274821 16 15802687 [C/G] NM_001143979,NM_017668,NM_001040113,NM_001040114,NM_002474,NM_022844 NDE1,NDE1,MYH11,MYH11,MYH11,MYH11 EXON Silent,Silent,Missense_P1940R,Silent,Silent,Missense_P1933R exm1219862 16 15808856 [T/C] NM_001143979,NM_017668,NM_001040113,NM_001040114,NM_002474,NM_022844 NDE1,NDE1,MYH11,MYH11,MYH11,MYH11 EXON Silent,Silent,Missense_N1906S,Missense_N1906S,Missense_N1899S,Missense_N1899S exm1219866 16 15808876 [G/C] NM_001143979,NM_017668,NM_001040113,NM_001040114,NM_002474,NM_022844 NDE1,NDE1,MYH11,MYH11,MYH11,MYH11 EXON Silent,Silent,Missense_E1899D,Missense_E1899D,Missense_E1892D,Missense_E1892D exm1219875 16 15809049 [T/C] NM_001143979,NM_017668,NM_001040113,NM_001040114,NM_002474,NM_022844 NDE1,NDE1,MYH11,MYH11,MYH11,MYH11 EXON Silent,Silent,Missense_R1869H,Missense_R1869H,Missense_R1862H,Missense_R1862H exm1219897 16 15811108 [T/C] NM_001143979,NM_017668,NM_001040113,NM_001040114,NM_002474,NM_022844 NDE1,NDE1,MYH11,MYH11,MYH11,MYH11 EXON Silent,Silent,Missense_R1805Q,Missense_R1805Q,Missense_R1798Q,Missense_R1798Q exm1219913 16 15812192 [T/C] NM_001143979,NM_017668,NM_001040113,NM_001040114,NM_002474,NM_022844 NDE1,NDE1,MYH11,MYH11,MYH11,MYH11 EXON Silent,Silent,Missense_V1766I,Missense_V1766I,Missense_V1759I,Missense_V1759I exm1219915 16 15812196 [T/G] NM_001143979,NM_017668,NM_001040113,NM_001040114,NM_002474,NM_022844 NDE1,NDE1,MYH11,MYH11,MYH11,MYH11 EXON Silent,Silent,Missense_D1764E,Missense_D1764E,Missense_D1757E,Missense_D1757E exm1219939 16 15814100 [T/G] NM_001143979,NM_017668,NM_001040113,NM_001040114,NM_002474,NM_022844 NDE1,NDE1,MYH11,MYH11,MYH11,MYH11 EXON Silent,Silent,Missense_K1628Q,Missense_K1628Q,Missense_K1621Q,Missense_K1621Q exm1219960 16 15814883 [T/C] NM_001143979,NM_017668,NM_001040113,NM_001040114,NM_002474,NM_022844 NDE1,NDE1,MYH11,MYH11,MYH11,MYH11 EXON Silent,Silent,Missense_R1542Q,Missense_R1542Q,Missense_R1535Q,Missense_R1535Q exm1219967 16 15815335 [T/C] NM_001143979,NM_017668,NM_001040113,NM_001040114,NM_002474,NM_022844 NDE1,NDE1,MYH11,MYH11,MYH11,MYH11 EXON Silent,Silent,Missense_M1515V,Missense_M1515V,Missense_M1508V,Missense_M1508V exm1219986 16 15818143 [T/C] NM_001143979,NM_017668,NM_001040113,NM_001040114,NM_002474,NM_022844 NDE1,NDE1,MYH11,MYH11,MYH11,MYH11 EXON Silent,Silent,Missense_A1421T,Missense_A1421T,Missense_A1414T,Missense_A1414T exm1219989 16 15818206 [G/C] NM_001143979,NM_017668,NM_001040113,NM_001040114,NM_002474,NM_022844 NDE1,NDE1,MYH11,MYH11,MYH11,MYH11 EXON Silent,Silent,Missense_G1400R,Missense_G1400R,Missense_G1393R,Missense_G1393R exm1220007 16 15818647 [C/G] NM_001143979,NM_017668,NM_001040113,NM_001040114,NM_002474,NM_022844 NDE1,NDE1,MYH11,MYH11,MYH11,MYH11 EXON Silent,Silent,Missense_Q1332E,Missense_Q1332E,Missense_Q1325E,Missense_Q1325E exm2252453 16 15818781 [A/G] NM_001143979,NM_017668,NM_001040113,NM_001040114,NM_002474,NM_022844 NDE1,NDE1,MYH11,MYH11,MYH11,MYH11 EXON Silent,Silent,Synonymous_D1316D,Synonymous_D1316D,Synonymous_D1309D,Synonymous_D1309D exm1220018 16 15818842 [A/G] NM_001143979,NM_017668,NM_001040113,NM_001040114,NM_002474,NM_022844 NDE1,NDE1,MYH11,MYH11,MYH11,MYH11 EXON Silent,Silent,Missense_V1296A,Missense_V1296A,Missense_V1289A,Missense_V1289A exm1220024 16 15820787 [A/G] NM_001040113,NM_001040114,NM_002474,NM_022844 MYH11,MYH11,MYH11,MYH11 EXON Missense_A1266V,Missense_A1266V,Missense_A1259V,Missense_A1259V exm1220025 16 15820797 [T/G] NM_001040113,NM_001040114,NM_002474,NM_022844 MYH11,MYH11,MYH11,MYH11 EXON Missense_K1263Q,Missense_K1263Q,Missense_K1256Q,Missense_K1256Q exm1220028 16 15820863 [T/C] NM_001040113,NM_001040114,NM_002474,NM_022844 MYH11,MYH11,MYH11,MYH11 EXON Missense_A1241T,Missense_A1241T,Missense_A1234T,Missense_A1234T exm1220054 16 15831403 [T/C] NM_001040113,NM_001040114,NM_002474,NM_022844 MYH11,MYH11,MYH11,MYH11 EXON Missense_D1073N,Missense_D1073N,Missense_D1066N,Missense_D1066N exm1220063 16 15834012 [A/C] NM_001040113,NM_001040114,NM_002474,NM_022844 MYH11,MYH11,MYH11,MYH11 EXON Missense_A972S,Missense_A972S,Missense_A965S,Missense_A965S exm1220105 16 15842009 [A/G] NM_001040113,NM_001040114,NM_002474,NM_022844 MYH11,MYH11,MYH11,MYH11 EXON Missense_A699V,Missense_A699V,Missense_A692V,Missense_A692V exm1220116 16 15844048 [A/G] NM_001040113,NM_001040114,NM_002474,NM_022844 MYH11,MYH11,MYH11,MYH11 EXON Missense_R676C,Missense_R676C,Missense_R669C,Missense_R669C exm1220124 16 15844182 [T/C] NM_001040113,NM_001040114,NM_002474,NM_022844 MYH11,MYH11,MYH11,MYH11 EXON Missense_R631H,Missense_R631H,Missense_R624H,Missense_R624H exm1220125 16 15847252 [A/G] NM_001040113,NM_001040114,NM_002474,NM_022844 MYH11,MYH11,MYH11,MYH11 EXON Synonymous_D628D,Synonymous_D628D,Synonymous_D621D,Synonymous_D621D exm2224252 16 15847292 [T/C] NM_001040113,NM_001040114,NM_002474,NM_022844 MYH11,MYH11,MYH11,MYH11 EXON Missense_N615S,Missense_N615S,Missense_N608S,Missense_N608S exm1220170 16 15872688 [A/G] NM_001040113,NM_001040114,NM_002474,NM_022844 MYH11,MYH11,MYH11,MYH11 EXON Missense_R254C,Missense_R254C,Missense_R247C,Missense_R247C exm1220203 16 15931893 [T/G] NM_001040113,NM_001040114,NM_002474,NM_022844 MYH11,MYH11,MYH11,MYH11 EXON Missense_K73Q,Missense_K73Q,Missense_K73Q,Missense_K73Q exm1220221 16 15961356 [T/C] NM_144600 FOPNL EXON Missense_E156K exm2274822 16 15961365 [C/G] NM_144600 FOPNL EXON Missense_L153V exm1220226 16 15967449 [T/C] NM_144600 FOPNL EXON Missense_R116H exm1220236 16 15973731 [T/C] NM_144600 FOPNL EXON Missense_V81I exm1220250 16 15982436 [T/G] NM_144600 FOPNL EXON Missense_T3P exm2272422 16 16018589 [T/C] exm1220260 16 16101793 [C/G] NM_004996 ABCC1 EXON Missense_L57V exm1220261 16 16101809 [A/G] NM_004996 ABCC1 EXON Missense_R62Q exm2224255 16 16101842 [T/C] NM_004996 ABCC1 EXON Missense_T73I exm1220266 16 16103682 [T/C] NM_004996 ABCC1 EXON Missense_S92F exm1220269 16 16108480 [A/G] NM_004996 ABCC1 EXON Missense_K162E exm1220279 16 16130339 [T/C] NM_004996 ABCC1 EXON Missense_R230W exm1220282 16 16130342 [T/G] NM_004996 ABCC1 EXON Missense_G231C exm1220290 16 16138311 [T/C] NM_004996 ABCC1 EXON Missense_P272S exm1220296 16 16138351 [T/C] NM_004996 ABCC1 EXON Missense_P285L exm1220298 16 16138377 [A/C] NM_004996 ABCC1 EXON Missense_N294H exm1220311 16 16139754 [A/G] NM_004996 ABCC1 EXON Missense_V368M exm1220319 16 16142015 [A/G] NM_004996 ABCC1 EXON Missense_N412S exm1220322 16 16142079 [T/G] NM_004996 ABCC1 EXON Missense_R433S exm1220332 16 16146666 [T/C] NM_004996 ABCC1 EXON Missense_T489M exm2252455 16 16162019 [T/C] NM_004996 ABCC1 EXON Synonymous_L562L exm1220352 16 16165572 [A/G] NM_004996 ABCC1 EXON Missense_R633Q exm1220353 16 16165585 [T/C] NM_004996 ABCC1 EXON Synonymous_D637D exm1220354 16 16170188 [T/G] NM_004996 ABCC1 EXON Missense_G640C exm1220365 16 16173232 [T/G] NM_004996 ABCC1 EXON Missense_G671V exm1220370 16 16177265 [A/G] NM_004996 ABCC1 EXON Missense_D720N exm1220371 16 16177275 [A/G] NM_004996 ABCC1 EXON Missense_R723Q exm2252456 16 16177393 [T/C] NM_004996 ABCC1 EXON Synonymous_G762G exm1220406 16 16200716 [C/G] NM_004996 ABCC1 EXON Missense_A953P exm1220416 16 16205325 [A/G] NM_004996 ABCC1 EXON Missense_A989T exm1220420 16 16205379 [A/G] NM_004996 ABCC1 EXON Missense_G1007R exm2252458 16 16208651 [T/C] NM_004996 ABCC1 EXON Synonymous_A1036A exm1220422 16 16208651 [T/C] NM_004996 ABCC1 EXON Synonymous_A1036A exm1220427 16 16208715 [T/C] NM_004996 ABCC1 EXON Missense_R1058W exm1220429 16 16208739 [T/C] NM_004996 ABCC1 EXON Missense_R1066W exm1220431 16 16208799 [A/G] NM_004996 ABCC1 EXON Missense_M1086V exm1220435 16 16208851 [A/G] NM_004996 ABCC1 EXON Missense_G1103D exm1220436 16 16208860 [T/C] NM_004996 ABCC1 EXON Missense_I1106T exm1220439 16 16208889 [A/G] NM_004996 ABCC1 EXON Missense_A1116T exm1220440 16 16208928 [A/G] NM_004996 ABCC1 EXON Missense_V1129I exm1220442 16 16215877 [A/G] NM_004996 ABCC1 EXON Missense_V1146I exm1220470 16 16225712 [T/C] NM_004996 ABCC1 EXON Missense_R1296W exm1220471 16 16225713 [A/G] NM_004996 ABCC1 EXON Missense_R1296Q exm1220472 16 16225727 [T/C] NM_004996 ABCC1 EXON Missense_R1301C exm1220483 16 16228310 [A/G] NM_004996 ABCC1 EXON Missense_N1357S exm1220486 16 16228333 [A/G] NM_004996 ABCC1 EXON Missense_D1365N exm1220489 16 16230363 [A/G] NM_004996 ABCC1 EXON Missense_R1385Q exm1220490 16 16230411 [T/C] NM_004996 ABCC1 EXON Missense_T1401M exm1220496 16 16230476 [A/T] NM_004996 ABCC1 EXON Missense_C1423S exm1220507 16 16232369 [A/G] NM_004996 ABCC1 EXON Missense_V1481I exm1848042 16 16244628 [T/C] NM_001171 ABCC6 EXON Missense_V1404M exm1220540 16 16248500 [T/C] NM_001171 ABCC6 EXON Missense_R1398Q exm1220546 16 16248623 [T/C] NM_001171 ABCC6 EXON Missense_R1357Q exm1220547 16 16248624 [A/G] NM_001171 ABCC6 EXON Missense_R1357W exm1220556 16 16248792 [T/C] NM_001171 ABCC6 EXON Missense_G1327R exm1220566 16 16251531 [T/C] NM_001171 ABCC6 EXON Missense_A1291T exm1220571 16 16251599 [T/C] NM_001171 ABCC6 EXON Missense_R1268Q exm1220573 16 16251647 [A/G] NM_001171 ABCC6 EXON Missense_T1252I exm1220593 16 16256866 [A/G] NM_001171 ABCC6 EXON Nonsense_R1164X exm1220596 16 16256896 [T/C] NM_001171 ABCC6 EXON Missense_V1154I exm1220598 16 16256925 [A/G] NM_001171 ABCC6 EXON Missense_A1144V exm1220599 16 16256935 [A/G] NM_001171 ABCC6 EXON Nonsense_R1141X exm1220601 16 16256944 [A/G] NM_001171 ABCC6 EXON Missense_R1138W exm1220616 16 16259596 [A/G] NM_001171 ABCC6 EXON Missense_R1064W exm1220626 16 16259722 [C/G] NM_001171 ABCC6 EXON Missense_Q1022E exm2274823 16 16263649 [A/G] NM_001171 ABCC6 EXON Missense_A950V exm1220641 16 16263650 [T/C] NM_001171 ABCC6 EXON Missense_A950T exm1220642 16 16263662 [T/G] NM_001171 ABCC6 EXON Missense_L946I exm1220648 16 16267140 [A/C] NM_001171 ABCC6 Silent exm1220653 16 16267232 [T/C] NM_001171 ABCC6 EXON Missense_R899H exm1220656 16 16269775 [A/G] NM_001171 ABCC6 EXON Missense_R887C exm1220662 16 16269832 [T/C] NM_001171 ABCC6 EXON Missense_G868R exm1220663 16 16271357 [T/C] NM_001171 ABCC6 EXON Missense_M848V exm1220675 16 16272711 [T/C] NM_001171 ABCC6 EXON Missense_V787I exm1220677 16 16272764 [T/C] NM_001171 ABCC6 EXON Missense_R769K exm1220681 16 16276292 [T/C] NM_001171 ABCC6 EXON Missense_I742V exm1220687 16 16276382 [A/G] NM_001171 ABCC6 EXON Missense_C712R exm1848099 16 16276385 [T/C] NM_001171 ABCC6 EXON Missense_V711M exm1220688 16 16276391 [T/C] NM_001171 ABCC6 EXON Missense_E709K exm1220692 16 16276442 [T/C] NM_001171 ABCC6 EXON Missense_A692T exm1220695 16 16276684 [A/C] NM_001171 ABCC6 EXON Missense_V683L exm1220697 16 16276741 [A/G] NM_001171 ABCC6 EXON Missense_P664S exm1220703 16 16278863 [T/G] NM_001171 ABCC6 EXON Missense_H632Q exm1220710 16 16281007 [A/G] NM_001171 ABCC6 EXON Missense_V614A exm1220712 16 16281065 [A/G] NM_001171 ABCC6 EXON Missense_R595W exm1220722 16 16282828 [T/C] NM_001171 ABCC6 EXON Missense_A547T exm1848113 16 16284070 [T/C] NM_001171 ABCC6 EXON Missense_G529D exm1220731 16 16284116 [T/C] NM_001171 ABCC6 EXON Missense_V514I exm1220740 16 16286694 [A/T] NM_001171 ABCC6 EXON Missense_H475L exm1848123 16 16286750 [A/G] NM_001171 ABCC6 EXON Synonymous_I456I exm2272347 16 16959637 [T/G] exm2260515 16 17200685 [T/C] NM_022166 XYLT1 EXON Silent exm1220877 16 17202664 [T/C] NM_022166 XYLT1 EXON Missense_G923D exm1220887 16 17202776 [A/C] NM_022166 XYLT1 EXON Missense_A886S exm1220892 16 17211505 [C/G] NM_022166 XYLT1 EXON Missense_P852R exm1220894 16 17211545 [T/C] NM_022166 XYLT1 EXON Missense_V839I exm1848298 16 17211558 [G/C] NM_022166 XYLT1 EXON Missense_E834D exm1220901 16 17211618 [A/C] NM_022166 XYLT1 EXON Missense_L814F exm1220902 16 17211635 [T/C] NM_022166 XYLT1 EXON Missense_K809E exm1220908 16 17211722 [T/C] NM_022166 XYLT1 EXON Missense_V780M exm1220912 16 17211764 [G/C] NM_022166 XYLT1 EXON Missense_P766A exm1220922 16 17221665 [T/C] NM_022166 XYLT1 EXON Missense_R694H exm1220929 16 17228363 [A/G] NM_022166 XYLT1 EXON Missense_T665M exm1220933 16 17228439 [T/C] NM_022166 XYLT1 EXON Missense_G640S exm1220941 16 17228516 [T/C] NM_022166 XYLT1 EXON Missense_Y614C exm1220947 16 17232220 [A/G] NM_022166 XYLT1 EXON Missense_R586C exm1220955 16 17232361 [T/C] NM_022166 XYLT1 EXON Missense_S539G exm1220960 16 17235167 [T/C] NM_022166 XYLT1 EXON Missense_R477H exm1220963 16 17252698 [T/C] NM_022166 XYLT1 EXON Missense_R453Q exm1220968 16 17252757 [T/G] NM_022166 XYLT1 EXON Missense_D433E exm1220977 16 17292142 [A/G] NM_022166 XYLT1 EXON Missense_R406W exm1220981 16 17292204 [A/G] NM_022166 XYLT1 EXON Missense_P385L exm1221008 16 17353051 [A/G] NM_022166 XYLT1 EXON Missense_P236L exm1221010 16 17353090 [G/C] NM_022166 XYLT1 EXON Missense_A223G exm1221016 16 17353159 [A/T] NM_022166 XYLT1 EXON Missense_Q200L exm1221023 16 17353318 [T/C] NM_022166 XYLT1 EXON Missense_R147Q exm1221024 16 17353333 [A/G] NM_022166 XYLT1 EXON Missense_P142L exm-rs7195703 16 17475645 [T/C] NM_022166 XYLT1 Silent exm2272348 16 17549067 [T/C] NM_022166 XYLT1 Silent exm2267876 16 17988303 [A/G] exm1221162 16 18804591 [T/C] NM_015161 ARL6IP1 EXON Missense_E199K exm1221164 16 18804620 [T/C] NM_015161 ARL6IP1 EXON Missense_R189K exm1221179 16 18806884 [T/A] NM_015161 ARL6IP1 EXON Nonsense_R104X exm1221204 16 18823314 [C/G] NM_015092 SMG1 EXON Missense_A3586G exm1221235 16 18840750 [A/G] NM_015092 SMG1 EXON Missense_L3154P exm1221238 16 18840789 [A/G] NM_015092 SMG1 EXON Missense_A3141V exm1221245 16 18841259 [T/C] NM_015092 SMG1 EXON Missense_K3041R exm1221253 16 18841642 [A/C] NM_015092 SMG1 EXON Missense_V2948F exm1848806 16 18844389 [T/C] NM_015092 SMG1 EXON Missense_G2889S exm1221269 16 18845615 [A/G] NM_015092 SMG1 EXON Missense_H2826Y exm1221280 16 18846395 [T/C] NM_015092 SMG1 EXON Missense_I2717V exm1221292 16 18847508 [T/C] NM_015092 SMG1 EXON Missense_A2602T exm2224310 16 18859226 [T/C] NM_015092 SMG1 EXON Missense_G1918E exm1221332 16 18859283 [T/C] NM_015092 SMG1 EXON Missense_C1899Y exm1221339 16 18861272 [T/C] NM_015092 SMG1 EXON Synonymous_R1820R exm1221347 16 18861705 [T/A] NM_015092 SMG1 EXON Missense_S1713T exm1221350 16 18861726 [T/C] NM_015092 SMG1 EXON Missense_V1706I exm1221357 16 18863489 [G/C] NM_015092 SMG1 EXON Missense_S1651C exm1848875 16 18864949 [T/C] NM_015092 SMG1 EXON Missense_N1575S exm1221365 16 18864968 [T/C] NM_015092 SMG1 EXON Missense_I1569V exm1221368 16 18865003 [T/C] NM_015092 SMG1 EXON Missense_G1557D exm1221376 16 18866201 [T/A] NM_015092 SMG1 EXON Missense_H1420Q exm1221377 16 18866208 [G/C] NM_015092 SMG1 EXON Missense_R1418T exm1221422 16 18883587 [A/G] NM_015092 SMG1 EXON Missense_T701M exm1221475 16 19020590 [T/C] NM_024847,NM_001160364 TMC7,TMC7 EXON Missense_T55I,Silent exm1221478 16 19020634 [A/G] NM_024847,NM_001160364 TMC7,TMC7 EXON Missense_T70A,Silent exm1221485 16 19020725 [A/C] NM_024847,NM_001160364 TMC7,TMC7 EXON Missense_K100T,Silent exm1221487 16 19020738 [T/G] NM_024847,NM_001160364 TMC7,TMC7 Silent,Silent exm1221488 16 19027834 [A/G] NM_024847,NM_001160364 TMC7,TMC7 EXON Missense_S125N,Missense_S15N exm1221493 16 19032994 [T/A] NM_024847,NM_001160364 TMC7,TMC7 EXON Missense_R168S,Missense_R58S exm1221502 16 19041595 [A/G] NM_024847,NM_001160364 TMC7,TMC7 EXON Missense_G254E,Missense_G144E exm2252472 16 19047001 [A/G] NM_024847,NM_001160364 TMC7,TMC7 EXON Synonymous_S287S,Synonymous_S177S exm2252473 16 19047133 [A/G] NM_024847,NM_001160364 TMC7,TMC7 EXON Synonymous_R331R,Synonymous_R221R exm1221518 16 19049242 [T/C] NM_024847,NM_001160364 TMC7,TMC7 EXON Missense_T351I,Missense_T241I exm1221520 16 19049253 [A/T] NM_024847,NM_001160364 TMC7,TMC7 EXON Missense_T355S,Missense_T245S exm1221524 16 19049346 [T/C] NM_024847,NM_001160364 TMC7,TMC7 EXON Missense_F386L,Missense_F276L exm1221525 16 19049350 [T/C] NM_024847,NM_001160364 TMC7,TMC7 EXON Missense_S387L,Missense_S277L exm1221539 16 19051741 [A/G] NM_024847,NM_001160364 TMC7,TMC7 EXON Missense_G437D,Missense_G327D exm1221544 16 19056300 [A/G] NM_024847,NM_001160364 TMC7,TMC7 EXON Missense_G478S,Missense_G368S exm1221545 16 19056312 [A/C] NM_024847,NM_001160364 TMC7,TMC7 EXON Missense_K482Q,Missense_K372Q exm2224318 16 19063045 [T/C] NM_024847,NM_001160364 TMC7,TMC7 EXON Missense_P593L,Missense_P483L exm1221564 16 19067896 [T/C] NM_024847,NM_001160364 TMC7,TMC7 EXON Missense_T635I,Missense_T525I exm1221566 16 19067976 [G/C] NM_024847,NM_001160364 TMC7,TMC7 EXON Missense_V662L,Missense_V552L exm1221570 16 19073120 [A/C] NM_024847,NM_001160364 TMC7,TMC7 EXON Nonsense_Y709X,Nonsense_Y599X exm2224320 16 19079036 [T/C] NM_016138 COQ7 EXON Missense_P17L exm1221581 16 19079058 [A/C] NM_016138 COQ7 EXON Synonymous_S24S exm1221587 16 19083312 [T/C] NM_016138,NM_001190983 COQ7,COQ7 EXON Missense_R46W,Missense_R8W exm1221588 16 19083327 [T/C] NM_016138,NM_001190983 COQ7,COQ7 EXON Nonsense_R51X,Nonsense_R13X exm1221590 16 19083369 [T/C] NM_016138,NM_001190983 COQ7,COQ7 EXON Missense_R65C,Missense_R27C exm1221595 16 19083411 [A/G] NM_016138,NM_001190983 COQ7,COQ7 EXON Missense_V79I,Missense_V41I exm1221600 16 19085283 [A/G] NM_016138,NM_001190983 COQ7,COQ7 EXON Missense_N98S,Missense_N60S exm1221601 16 19085298 [T/C] NM_016138,NM_001190983 COQ7,COQ7 EXON Missense_T103M,Missense_T65M exm1221617 16 19088665 [A/G] NM_016138,NM_001190983 COQ7,COQ7 EXON Missense_H182R,Missense_H144R exm2272425 16 19109992 [T/C] exm1221630 16 19125877 [A/G] NM_001034841,NR_028028 ITPRIPL2,ITPRIPL2 EXON Missense_G32R,Silent exm1221646 16 19126331 [T/C] NM_001034841,NR_028028 ITPRIPL2,ITPRIPL2 EXON Missense_P183L,Silent exm1221660 16 19126706 [A/G] NM_001034841,NR_028028 ITPRIPL2,ITPRIPL2 EXON Missense_R308H,Silent exm1221664 16 19126808 [T/G] NM_001034841,NR_028028 ITPRIPL2,ITPRIPL2 EXON Missense_R342L,Silent exm1221666 16 19126946 [A/G] NM_001034841,NR_028028 ITPRIPL2,ITPRIPL2 EXON Missense_R388H,Silent exm1221668 16 19126982 [A/G] NM_001034841,NR_028028 ITPRIPL2,ITPRIPL2 EXON Missense_R400H,Silent exm1221701 16 19194864 [T/C] NM_016524 SYT17 EXON Missense_R116C exm1221706 16 19194929 [C/G] NM_016524 SYT17 EXON Missense_E137D exm1221707 16 19194990 [A/G] NM_016524 SYT17 EXON Missense_E158K exm1221709 16 19195009 [T/C] NM_016524 SYT17 EXON Missense_L164P exm1221718 16 19195128 [T/C] NM_016524 SYT17 EXON Missense_R204C exm1221732 16 19195294 [A/G] NM_016524 SYT17 EXON Missense_R259H exm1221736 16 19195350 [A/G] NM_016524 SYT17 EXON Missense_V278M exm2267877 16 19209675 [A/G] NM_016524 SYT17 Silent exm1221754 16 19278210 [T/C] NM_016524 SYT17 EXON Missense_H413Y exm2267878 16 19421858 [A/G] exm1221776 16 19451418 [T/C] NM_001105248,NM_001105249,NM_001261841 TMC5,TMC5,TMC5 EXON Missense_S20P,Missense_S20P,Missense_S20P exm1221780 16 19451505 [A/G] NM_001105248,NM_001105249,NM_001261841 TMC5,TMC5,TMC5 EXON Missense_G49S,Missense_G49S,Missense_G49S exm1221783 16 19451544 [T/C] NM_001105248,NM_001105249,NM_001261841 TMC5,TMC5,TMC5 EXON Missense_R62C,Missense_R62C,Missense_R62C exm1221802 16 19451962 [C/G] NM_001105248,NM_001105249,NM_001261841 TMC5,TMC5,TMC5 EXON Missense_S201C,Missense_S201C,Missense_S201C exm1221807 16 19452146 [C/G] NM_001105248,NM_001105249,NM_001261841 TMC5,TMC5,TMC5 EXON Missense_R262S,Missense_R262S,Missense_R262S exm1221812 16 19455461 [A/G] NM_001105248,NM_001105249,NM_001261841 TMC5,TMC5,TMC5 EXON Missense_V283M,Missense_V283M,Missense_V283M exm1221813 16 19455468 [T/G] NM_001105248,NM_001105249,NM_001261841 TMC5,TMC5,TMC5 EXON Missense_S285I,Missense_S285I,Missense_S285I exm1221818 16 19460888 [A/G] NM_001105248,NM_001105249,NM_001261841 TMC5,TMC5,TMC5 EXON Missense_S328N,Missense_S328N,Missense_S328N exm1221826 16 19468038 [A/G] NM_001105248,NM_001105249,NM_001261841,NM_024780 TMC5,TMC5,TMC5,TMC5 EXON Silent,Silent,Silent,Missense_D4N exm1221827 16 19468107 [T/C] NM_001105248,NM_001105249,NM_001261841,NM_024780 TMC5,TMC5,TMC5,TMC5 EXON Silent,Silent,Silent,Missense_S27P exm1221832 16 19468177 [T/C] NM_001105248,NM_001105249,NM_001261841,NM_024780 TMC5,TMC5,TMC5,TMC5 EXON Silent,Silent,Silent,Missense_I50T exm1221833 16 19468200 [C/G] NM_001105248,NM_001105249,NM_001261841,NM_024780 TMC5,TMC5,TMC5,TMC5 EXON Silent,Silent,Silent,Missense_V58L exm1221842 16 19471571 [A/G] NM_001105248,NM_001105249,NM_001261841,NM_024780 TMC5,TMC5,TMC5,TMC5 EXON Missense_A355T,Missense_A355T,Missense_A355T,Missense_A109T exm1221843 16 19471647 [A/G] NM_001105248,NM_001105249,NM_001261841,NM_024780 TMC5,TMC5,TMC5,TMC5 EXON Missense_R380K,Missense_R380K,Missense_R380K,Missense_R134K exm1221848 16 19474639 [T/C] NM_001105248,NM_001105249,NM_001261841,NM_024780 TMC5,TMC5,TMC5,TMC5 EXON Missense_R396C,Missense_R396C,Missense_R396C,Missense_R150C exm1221850 16 19474663 [A/G] NM_001105248,NM_001105249,NM_001261841,NM_024780 TMC5,TMC5,TMC5,TMC5 EXON Missense_I404V,Missense_I404V,Missense_I404V,Missense_I158V exm1221851 16 19474685 [A/C] NM_001105248,NM_001105249,NM_001261841,NM_024780 TMC5,TMC5,TMC5,TMC5 EXON Missense_S411Y,Missense_S411Y,Missense_S411Y,Missense_S165Y exm1221852 16 19474688 [A/G] NM_001105248,NM_001105249,NM_001261841,NM_024780 TMC5,TMC5,TMC5,TMC5 EXON Missense_R412Q,Missense_R412Q,Missense_R412Q,Missense_R166Q exm1221853 16 19475099 [A/C] NM_001105248,NM_001105249,NM_001261841,NM_024780 TMC5,TMC5,TMC5,TMC5 EXON Missense_A413D,Missense_A413D,Missense_A413D,Missense_A167D exm1221854 16 19475104 [T/C] NM_001105248,NM_001105249,NM_001261841,NM_024780 TMC5,TMC5,TMC5,TMC5 EXON Missense_R415W,Missense_R415W,Missense_R415W,Missense_R169W exm1221857 16 19475138 [A/G] NM_001105248,NM_001105249,NM_001261841,NM_024780 TMC5,TMC5,TMC5,TMC5 EXON Missense_N426S,Missense_N426S,Missense_N426S,Missense_N180S exm1221865 16 19477423 [T/C] NM_001105248,NM_001105249,NM_001261841,NM_024780 TMC5,TMC5,TMC5,TMC5 EXON Missense_V502A,Missense_V502A,Missense_V502A,Missense_V256A exm1221869 16 19477477 [A/C] NM_001105248,NM_001105249,NM_001261841,NM_024780 TMC5,TMC5,TMC5,TMC5 EXON Missense_A520E,Missense_A520E,Missense_A520E,Missense_A274E exm1221870 16 19477515 [A/G] NM_001105248,NM_001105249,NM_001261841,NM_024780 TMC5,TMC5,TMC5,TMC5 EXON Missense_G533R,Missense_G533R,Missense_G533R,Missense_G287R exm1221872 16 19481006 [A/G] NM_001105248,NM_001105249,NM_001261841,NM_024780 TMC5,TMC5,TMC5,TMC5 EXON Missense_M547I,Missense_M547I,Missense_M547I,Missense_M301I exm1849082 16 19483429 [A/G] NM_001105248,NM_001105249,NM_001261841,NM_024780 TMC5,TMC5,TMC5,TMC5 EXON Missense_R601H,Missense_R601H,Missense_R601H,Missense_R355H exm1221901 16 19485570 [T/C] NM_001105248,NM_001105249,NM_001261841,NM_024780 TMC5,TMC5,TMC5,TMC5 EXON Missense_R688W,Missense_R688W,Missense_R688W,Missense_R442W exm1221903 16 19485597 [T/C] NM_001105248,NM_001105249,NM_001261841,NM_024780 TMC5,TMC5,TMC5,TMC5 EXON Nonsense_R697X,Nonsense_R697X,Nonsense_R697X,Nonsense_R451X exm1221906 16 19490769 [T/C] NM_001105248,NM_001105249,NM_001261841,NM_024780 TMC5,TMC5,TMC5,TMC5 EXON Missense_I729T,Missense_I729T,Missense_I729T,Missense_I483T exm1221907 16 19490823 [T/A] NM_001105248,NM_001105249,NM_001261841,NM_024780 TMC5,TMC5,TMC5,TMC5 EXON Missense_N747I,Missense_N747I,Missense_N747I,Missense_N501I exm1221916 16 19498277 [T/A] NM_001105248,NM_001105249,NM_001261841,NM_024780 TMC5,TMC5,TMC5,TMC5 EXON Missense_F792I,Missense_F792I,Missense_F792I,Missense_F546I exm1221922 16 19498584 [T/A] NM_001105248,NM_001105249,NM_001261841,NM_024780 TMC5,TMC5,TMC5,TMC5 EXON Missense_I837F,Missense_I837F,Missense_I837F,Missense_I591F exm1221924 16 19498639 [T/C] NM_001105248,NM_001105249,NM_001261841,NM_024780 TMC5,TMC5,TMC5,TMC5 EXON Missense_T855I,Missense_T855I,Missense_T855I,Missense_T609I exm1221934 16 19505657 [C/G] NM_001105248,NM_001105249,NM_001261841,NM_024780 TMC5,TMC5,TMC5,TMC5 EXON Missense_S967T,Missense_S909T,Missense_S967T,Missense_S721T exm1221944 16 19509266 [A/G] NM_001105248,NM_001105249,NM_001261841,NM_024780 TMC5,TMC5,TMC5,TMC5 EXON Missense_Q1000R,Missense_Q942R,Missense_Q1000R,Missense_Q754R exm1221951 16 19514806 [T/C] NM_016641 GDE1 EXON Missense_E328K exm1849115 16 19516203 [A/G] NM_016641 GDE1 EXON Missense_P283L exm1221958 16 19516398 [T/C] NM_016641 GDE1 EXON Missense_R218Q exm1221966 16 19528337 [T/C] NM_016641 GDE1 EXON Missense_R146G exm2252475 16 19533131 [A/G] NM_016641 GDE1 EXON Synonymous_S52S exm1221980 16 19533192 [G/C] NM_016641 GDE1 EXON Missense_C32S exm1221989 16 19539306 [T/C] NM_001199022,NM_014711 CCP110,CCP110 EXON Missense_L35F,Missense_L35F exm1221998 16 19547503 [T/C] NM_001199022,NM_014711 CCP110,CCP110 EXON Missense_P171L,Missense_P171L exm1222006 16 19547747 [C/G] NM_001199022,NM_014711 CCP110,CCP110 EXON Missense_I252M,Missense_I252M exm1222012 16 19547959 [T/C] NM_001199022,NM_014711 CCP110,CCP110 EXON Missense_V323A,Missense_V323A exm2224331 16 19547970 [A/G] NM_001199022,NM_014711 CCP110,CCP110 EXON Missense_I327V,Missense_I327V exm1222015 16 19548030 [T/A] NM_001199022,NM_014711 CCP110,CCP110 EXON Missense_F347I,Missense_F347I exm1222016 16 19548116 [A/G] NM_001199022,NM_014711 CCP110,CCP110 EXON Missense_M375I,Missense_M375I exm1222017 16 19548127 [A/G] NM_001199022,NM_014711 CCP110,CCP110 EXON Missense_R379H,Missense_R379H exm1222024 16 19548270 [A/G] NM_001199022,NM_014711 CCP110,CCP110 EXON Missense_K427E,Missense_K427E exm1222033 16 19548526 [A/G] NM_001199022,NM_014711 CCP110,CCP110 EXON Missense_Q512R,Missense_Q512R exm1222041 16 19548670 [T/C] NM_001199022,NM_014711 CCP110,CCP110 EXON Missense_T560M,Missense_T560M exm1222054 16 19551994 [T/C] NM_001199022,NM_014711 CCP110,CCP110 EXON Missense_L645P,Missense_L645P exm1222057 16 19552027 [A/G] NM_001199022,NM_014711 CCP110,CCP110 EXON Missense_R656Q,Missense_R656Q exm1222078 16 19553993 [T/C] NM_001199022,NM_014711 CCP110,CCP110 EXON Missense_P760S,Missense_P760S exm1222086 16 19556183 [T/C] NM_001199022,NM_014711 CCP110,CCP110 EXON Missense_A850V,Missense_A850V exm1222123 16 19584445 [A/G] NM_020314 C16orf62 EXON Missense_S186N exm1222125 16 19584480 [A/G] NM_020314 C16orf62 EXON Missense_V198I exm1222128 16 19584534 [T/C] NM_020314 C16orf62 EXON Missense_R216W exm1222143 16 19603133 [A/G] NM_020314 C16orf62 EXON Missense_T310A exm1222152 16 19620343 [T/C] NM_020314 C16orf62 EXON Missense_T399M exm1222158 16 19621667 [A/G] NM_020314 C16orf62 EXON Missense_R407Q exm1222182 16 19639051 [A/G] NM_020314 C16orf62 EXON Missense_R525Q exm1222185 16 19639065 [A/G] NM_020314 C16orf62 EXON Missense_A530T exm1222190 16 19640020 [A/G] NM_020314 C16orf62 EXON Missense_R571Q exm1222193 16 19640068 [A/C] NM_020314 C16orf62 EXON Missense_N587T exm1222195 16 19641142 [A/G] NM_020314 C16orf62 EXON Synonymous_T607T exm1222200 16 19644490 [T/C] NM_020314 C16orf62 EXON Missense_P633L exm1222211 16 19653744 [T/C] NM_020314 C16orf62 EXON Missense_P693L exm1222216 16 19659116 [A/G] NM_020314 C16orf62 EXON Missense_G736D exm1222219 16 19659172 [A/C] NM_020314 C16orf62 EXON Missense_N755H exm1222222 16 19661744 [A/G] NM_020314 C16orf62 EXON Missense_K779R exm1222228 16 19663326 [T/C] NM_020314 C16orf62 EXON Missense_I801T exm1849221 16 19663352 [T/C] NM_020314 C16orf62 EXON Missense_R810C exm1222234 16 19663379 [T/C] NM_020314 C16orf62 EXON Nonsense_Q819X exm1222238 16 19680505 [A/C] NM_020314 C16orf62 EXON Missense_I838L exm1222240 16 19680518 [T/C] NM_020314 C16orf62 EXON Missense_P842L exm1222251 16 19693593 [A/T] NM_020314 C16orf62 EXON Missense_N892I exm1222268 16 19702744 [T/C] NM_020314 C16orf62 EXON Missense_T955M exm1222269 16 19710824 [A/G] NM_020314 C16orf62 EXON Missense_A972T exm1222274 16 19710891 [A/G] NM_020314 C16orf62 EXON Missense_R994H exm1222277 16 19710923 [G/C] NM_020314 C16orf62 EXON Missense_L1005V exm1222284 16 19711724 [A/C] NM_020314 C16orf62 EXON Missense_K1029Q exm1222286 16 19711792 [G/C] NM_020314 C16orf62 EXON Missense_R1051S exm1222295 16 19718333 [A/C] NM_001012991 C16orf88 EXON Missense_W426G exm1222296 16 19718345 [A/G] NM_001012991 C16orf88 EXON Missense_R422W exm1849240 16 19718429 [T/C] NM_001012991 C16orf88 EXON Missense_A394T exm1222309 16 19718435 [A/G] NM_001012991 C16orf88 EXON Missense_R392C exm1222311 16 19718495 [C/G] NM_001012991 C16orf88 EXON Missense_Q372E exm1222317 16 19721859 [A/G] NM_001012991 C16orf88 EXON Missense_T346M exm1222326 16 19725531 [A/G] NM_001012991 C16orf88 EXON Missense_V276A exm1222332 16 19725600 [A/G] NM_001012991 C16orf88 EXON Missense_P253L exm1222336 16 19725703 [A/G] NM_001012991 C16orf88 EXON Missense_H219Y exm1222356 16 19726084 [A/G] NM_001012991 C16orf88 EXON Missense_R92W exm1222360 16 19726140 [A/C] NM_001012991 C16orf88 EXON Missense_G73V exm1222361 16 19726231 [A/G] NM_001012991 C16orf88 EXON Missense_P43S exm1222362 16 19726275 [T/C] NM_001012991 C16orf88 EXON Missense_R28Q exm1222366 16 19729629 [A/C] NM_153208 IQCK EXON Missense_M1L exm1222378 16 19729767 [A/G] NM_153208 IQCK EXON Missense_T47A exm1222382 16 19741811 [A/G] NM_153208 IQCK EXON Missense_I81V exm1222391 16 19745149 [T/C] NM_153208 IQCK EXON Missense_C126R exm1222394 16 19746728 [A/C] NM_153208 IQCK EXON Missense_M144L exm2272426 16 19767129 [T/G] NM_153208 IQCK Silent exm1222402 16 19775403 [A/C] NM_153208 IQCK EXON Missense_I192L exm1849268 16 19800165 [A/G] NM_153208 IQCK EXON Missense_R204Q exm1222409 16 19800213 [T/C] NM_153208 IQCK EXON Missense_L220P exm1222413 16 19838349 [T/C] NM_153208 IQCK EXON Missense_V231A exm1222440 16 19883228 [T/C] NM_016235 GPRC5B EXON Missense_R314G exm1222447 16 19883318 [T/C] NM_016235 GPRC5B EXON Missense_V284I exm1222449 16 19883344 [A/G] NM_016235 GPRC5B EXON Missense_T275M exm1222452 16 19883375 [A/C] NM_016235 GPRC5B EXON Missense_D265Y exm1222473 16 19883729 [T/C] NM_016235 GPRC5B EXON Missense_V147M exm1222482 16 19883930 [A/G] NM_016235 GPRC5B EXON Missense_R80W exm1222483 16 19883969 [T/C] NM_016235 GPRC5B EXON Missense_A67T exm1222487 16 19884011 [T/C] NM_016235 GPRC5B EXON Missense_A53T exm-rs12444979 16 19933600 [T/C] exm1849339 16 20043061 [A/G] NM_001002911 GPR139 EXON Missense_P353L exm1849341 16 20043227 [T/C] NM_001002911 GPR139 EXON Missense_A298T exm1222497 16 20043236 [T/C] NM_001002911 GPR139 EXON Missense_M295V exm1222502 16 20043340 [T/C] NM_001002911 GPR139 EXON Missense_R260H exm1222505 16 20043388 [T/C] NM_001002911 GPR139 EXON Missense_R244H exm1222506 16 20043404 [T/C] NM_001002911 GPR139 EXON Missense_T239A exm1222508 16 20043428 [A/G] NM_001002911 GPR139 EXON Missense_F231L exm1222509 16 20043448 [A/C] NM_001002911 GPR139 EXON Missense_G224V exm1222510 16 20043451 [T/G] NM_001002911 GPR139 EXON Missense_T223K exm1222519 16 20043748 [A/G] NM_001002911 GPR139 EXON Missense_I124T exm2252479 16 20055884 [T/C] NM_001002911 GPR139 Silent exm2252480 16 20238586 [T/C] exm1222535 16 20322602 [A/C] NM_001007242,NM_001007241,NM_001502,NM_001007240 GP2,GP2,GP2,GP2 EXON Synonymous_G369G,Synonymous_G372G,Synonymous_G516G,Synonymous_G519G exm1222544 16 20328537 [A/G] NM_001007242,NM_001007241,NM_001502,NM_001007240 GP2,GP2,GP2,GP2 EXON Missense_P325S,Missense_P328S,Missense_P472S,Missense_P475S exm1222548 16 20328581 [T/C] NM_001007242,NM_001007241,NM_001502,NM_001007240 GP2,GP2,GP2,GP2 EXON Missense_H310R,Missense_H313R,Missense_H457R,Missense_H460R exm1222551 16 20328644 [A/G] NM_001007242,NM_001007241,NM_001502,NM_001007240 GP2,GP2,GP2,GP2 EXON Missense_S289L,Missense_S292L,Missense_S436L,Missense_S439L exm1222552 16 20328666 [T/C] NM_001007242,NM_001007241,NM_001502,NM_001007240 GP2,GP2,GP2,GP2 EXON Missense_V282M,Missense_V285M,Missense_V429M,Missense_V432M exm1849545 16 20329743 [A/G] NM_001007242,NM_001007241,NM_001502,NM_001007240 GP2,GP2,GP2,GP2 EXON Synonymous_N192N,Synonymous_N195N,Synonymous_N339N,Synonymous_N342N exm1849547 16 20331048 [T/C] NM_001007242,NM_001007241,NM_001502,NM_001007240 GP2,GP2,GP2,GP2 EXON Missense_V154I,Missense_V157I,Missense_V301I,Missense_V304I exm1222567 16 20331072 [A/T] NM_001007242,NM_001007241,NM_001502,NM_001007240 GP2,GP2,GP2,GP2 EXON Missense_I146F,Missense_I149F,Missense_I293F,Missense_I296F exm1222569 16 20331091 [T/C] NM_001007242,NM_001007241,NM_001502,NM_001007240 GP2,GP2,GP2,GP2 Silent,Silent,Silent,Silent exm1222590 16 20335201 [T/G] NM_001007242,NM_001007241,NM_001502,NM_001007240 GP2,GP2,GP2,GP2 EXON Silent,Silent,Missense_P158T,Missense_P158T exm1222593 16 20335264 [T/C] NM_001007242,NM_001007241,NM_001502,NM_001007240 GP2,GP2,GP2,GP2 EXON Silent,Silent,Missense_A137T,Missense_A137T exm1222596 16 20335318 [T/C] NM_001007242,NM_001007241,NM_001502,NM_001007240 GP2,GP2,GP2,GP2 EXON Silent,Silent,Missense_M119V,Missense_M119V exm1222600 16 20335396 [A/C] NM_001007242,NM_001007241,NM_001502,NM_001007240 GP2,GP2,GP2,GP2 EXON Silent,Silent,Missense_Y93D,Missense_Y93D exm1222601 16 20335402 [T/C] NM_001007242,NM_001007241,NM_001502,NM_001007240 GP2,GP2,GP2,GP2 EXON Silent,Silent,Missense_G91S,Missense_G91S exm1222604 16 20335459 [A/G] NM_001007242,NM_001007241,NM_001502,NM_001007240 GP2,GP2,GP2,GP2 EXON Silent,Silent,Missense_P72S,Missense_P72S exm1222608 16 20335563 [A/G] NM_001007242,NM_001007241,NM_001502,NM_001007240 GP2,GP2,GP2,GP2 EXON Silent,Silent,Missense_I37T,Missense_I37T exm1222609 16 20337662 [T/C] NM_001007242,NM_001007241,NM_001502,NM_001007240 GP2,GP2,GP2,GP2 EXON Missense_R31Q,Missense_R31Q,Missense_R31Q,Missense_R31Q exm1222613 16 20337747 [A/G] NM_001007242,NM_001007241,NM_001502,NM_001007240 GP2,GP2,GP2,GP2 EXON Missense_H3Y,Missense_H3Y,Missense_H3Y,Missense_H3Y exm-rs12444268 16 20342572 [A/T] exm1222616 16 20344643 [A/G] NM_003361,NM_001008389 UMOD,UMOD EXON Missense_F639S,Missense_F639S exm1222620 16 20348036 [A/G] NM_003361,NM_001008389 UMOD,UMOD EXON Missense_T585I,Missense_T585I exm1222623 16 20348705 [T/C] NM_003361,NM_001008389 UMOD,UMOD EXON Missense_V550I,Missense_V550I exm1222642 16 20352584 [A/G] NM_003361,NM_001008389 UMOD,UMOD EXON Missense_T469M,Missense_T469M exm1222646 16 20352614 [T/C] NM_003361,NM_001008389 UMOD,UMOD EXON Missense_R459Q,Missense_R459Q exm1222647 16 20352615 [A/G] NM_003361,NM_001008389 UMOD,UMOD EXON Missense_R459W,Missense_R459W exm1222648 16 20352618 [A/C] NM_003361,NM_001008389 UMOD,UMOD EXON Missense_V458L,Missense_V458L exm2274824 16 20357477 [A/G] NM_003361,NM_001008389 UMOD,UMOD EXON Missense_R385W,Missense_R385W exm1222666 16 20357506 [T/C] NM_003361,NM_001008389 UMOD,UMOD EXON Missense_R375Q,Missense_R375Q exm1222689 16 20360085 [C/G] NM_003361,NM_001008389 UMOD,UMOD EXON Missense_L180V,Missense_L180V exm1222692 16 20360198 [T/C] NM_003361,NM_001008389 UMOD,UMOD EXON Missense_R142Q,Missense_R142Q exm1222700 16 20360439 [T/G] NM_003361,NM_001008389 UMOD,UMOD EXON Missense_T62P,Missense_T62P exm-rs4293393 16 20364588 [A/G] exm-rs13333226 16 20365654 [A/G] exm-rs12917707 16 20367690 [T/G] exm1222711 16 20370712 [T/C] NM_174924 PDILT EXON Missense_V562M exm1222716 16 20370763 [T/C] NM_174924 PDILT EXON Missense_V545I exm1222722 16 20370792 [A/G] NM_174924 PDILT EXON Missense_S535L exm1222724 16 20370810 [T/C] NM_174924 PDILT EXON Missense_G529E exm1222725 16 20370816 [T/C] NM_174924 PDILT EXON Missense_R527K exm1222733 16 20371916 [A/T] NM_174924 PDILT EXON Nonsense_K494X exm1222735 16 20371972 [A/C] NM_174924 PDILT EXON Missense_L475R exm1222736 16 20373737 [T/C] NM_174924 PDILT EXON Missense_G469S exm1222738 16 20373766 [T/C] NM_174924 PDILT EXON Missense_R459Q exm1222740 16 20373806 [T/C] NM_174924 PDILT EXON Missense_D446N exm1222746 16 20376778 [T/C] NM_174924 PDILT EXON Missense_V401I exm1222751 16 20380839 [T/C] NM_174924 PDILT EXON Missense_R364H exm1849623 16 20380906 [T/G] NM_174924 PDILT EXON Missense_S342R exm2252482 16 20380937 [T/G] NM_174924 PDILT EXON Synonymous_V331V exm1222762 16 20380961 [C/G] NM_174924 PDILT EXON Missense_F323L exm1222763 16 20380968 [T/C] NM_174924 PDILT EXON Missense_R321H exm1222778 16 20384226 [A/C] NM_174924 PDILT EXON Missense_L272F exm1222779 16 20384231 [T/C] NM_174924 PDILT EXON Missense_E271K exm1222786 16 20384428 [A/C] NM_174924 PDILT EXON Missense_R233L exm1222787 16 20384429 [A/G] NM_174924 PDILT EXON Missense_R233C exm1222790 16 20386176 [T/C] NM_174924 PDILT EXON Missense_V217I exm1222795 16 20386185 [C/G] NM_174924 PDILT EXON Missense_R214G exm1222803 16 20387404 [T/C] NM_174924 PDILT EXON Missense_V177I exm1222807 16 20387497 [T/C] NM_174924 PDILT EXON Missense_V146I exm1222809 16 20395978 [A/C] NM_174924 PDILT EXON Missense_I133S exm1222813 16 20396057 [T/C] NM_174924 PDILT EXON Missense_K107E exm1849641 16 20396140 [A/G] NM_174924 PDILT EXON Missense_A79V exm1222821 16 20410421 [A/G] NM_174924 PDILT EXON Missense_H68Y exm1222822 16 20410427 [C/G] NM_174924 PDILT EXON Missense_L66V exm1849652 16 20410445 [T/A] NM_174924 PDILT EXON Missense_T60S exm1222826 16 20410468 [A/C] NM_174924 PDILT EXON Missense_G52V exm1222839 16 20410547 [T/C] NM_174924 PDILT EXON Missense_A26T exm1222840 16 20410582 [T/C] NM_174924 PDILT EXON Missense_C14Y exm1222841 16 20410586 [T/C] NM_174924 PDILT EXON Missense_A13T exm1222843 16 20410592 [T/C] NM_174924 PDILT EXON Missense_V11M exm1222852 16 20422879 [A/C] NM_017888 ACSM5 EXON Missense_K25Q exm1222860 16 20429391 [A/G] NM_017888 ACSM5 EXON Missense_R72H exm1222861 16 20429397 [G/C] NM_017888 ACSM5 EXON Missense_P74R exm1222865 16 20429546 [T/C] NM_017888 ACSM5 EXON Missense_R124W exm1222867 16 20429553 [T/C] NM_017888 ACSM5 EXON Missense_P126L exm1222870 16 20429585 [T/C] NM_017888 ACSM5 EXON Missense_R137W exm1222871 16 20429586 [G/C] NM_017888 ACSM5 EXON Missense_R137P exm1222879 16 20430663 [A/G] NM_017888 ACSM5 EXON Missense_D177N exm1222890 16 20432605 [A/G] NM_017888 ACSM5 EXON Missense_M217V exm1222895 16 20432659 [A/G] NM_017888 ACSM5 EXON Missense_G235R exm1222898 16 20432724 [A/G] NM_017888 ACSM5 Silent exm2224359 16 20435321 [T/C] NM_017888 ACSM5 EXON Missense_S284F exm1222912 16 20439152 [A/G] NM_017888 ACSM5 EXON Missense_T322A exm1222919 16 20441013 [A/G] NM_017888 ACSM5 EXON Missense_S339G exm1222920 16 20441020 [A/G] NM_017888 ACSM5 EXON Missense_R341K exm1222948 16 20442594 [T/C] NM_017888 ACSM5 EXON Missense_A420V exm1222952 16 20442600 [A/G] NM_017888 ACSM5 EXON Missense_R422H exm1849701 16 20448401 [A/G] NM_017888 ACSM5 EXON Missense_E446K exm1222996 16 20451726 [T/C] NM_017888 ACSM5 EXON Nonsense_R573X exm1223003 16 20471450 [A/G] NM_001010845 ACSM2A EXON Missense_R5Q exm1223058 16 20482927 [C/G] NM_001010845 ACSM2A EXON Missense_L270F exm1223086 16 20489919 [A/G] NM_001010845 ACSM2A EXON Missense_V401I exm1223121 16 20497956 [T/C] NM_001010845 ACSM2A EXON Nonsense_R564X exm1849798 16 20548662 [C/G] NM_182617,NM_001105069 ACSM2B,ACSM2B EXON Missense_P551R,Missense_P551R exm1223146 16 20554331 [A/G] NM_182617,NM_001105069 ACSM2B,ACSM2B EXON Missense_R472W,Missense_R472W exm1223196 16 20563528 [T/C] NM_182617,NM_001105069 ACSM2B,ACSM2B EXON Missense_T278A,Missense_T278A exm1223240 16 20634846 [A/G] NM_052956 ACSM1 EXON Missense_R566W exm1223244 16 20635418 [T/C] NM_052956 ACSM1 EXON Synonymous_K549K exm1223248 16 20635521 [A/G] NM_052956 ACSM1 EXON Missense_I515T exm1223257 16 20636837 [T/C] NM_052956 ACSM1 EXON Missense_I479V exm1849882 16 20638535 [T/C] NM_052956 ACSM1 EXON Missense_S468N exm1223262 16 20638592 [T/C] NM_052956 ACSM1 EXON Missense_N449S exm1223265 16 20638638 [T/C] NM_052956 ACSM1 EXON Missense_G434S exm1223272 16 20648162 [T/C] NM_052956 ACSM1 EXON Missense_V400I exm1223283 16 20648701 [T/C] NM_052956 ACSM1 EXON Missense_D397N exm1223306 16 20673171 [T/G] NM_052956 ACSM1 EXON Missense_H313N exm-rs151222 16 20674492 [G/C] NM_052956 ACSM1 Silent exm-rs433598 16 20680206 [T/C] NM_052956 ACSM1 Silent exm1223310 16 20681229 [T/A] NM_052956 ACSM1 EXON Missense_T278S exm1223312 16 20681245 [A/C] NM_052956 ACSM1 EXON Missense_I272M exm1223313 16 20681257 [T/G] NM_052956 ACSM1 EXON Missense_D268E exm1223314 16 20681267 [T/C] NM_052956 ACSM1 EXON Missense_C265Y exm1223317 16 20681288 [T/C] NM_052956 ACSM1 EXON Missense_K258R exm1223321 16 20682893 [A/G] NM_052956 ACSM1 EXON Missense_H238Y exm1223325 16 20693590 [T/C] NM_052956 ACSM1 EXON Missense_R200Q exm1223326 16 20693591 [A/G] NM_052956 ACSM1 EXON Nonsense_R200X exm1223327 16 20693663 [G/C] NM_052956 ACSM1 EXON Missense_A176P exm1223328 16 20693695 [A/G] NM_052956 ACSM1 EXON Missense_I165T exm1223329 16 20693738 [A/G] NM_052956 ACSM1 EXON Missense_L151F exm1223334 16 20696560 [A/G] NM_052956 ACSM1 EXON Nonsense_R120X exm1223337 16 20696617 [T/C] NM_052956 ACSM1 EXON Missense_V101I exm1223346 16 20702327 [T/G] NM_052956 ACSM1 EXON Missense_K62Q exm2252484 16 20702346 [T/C] NM_052956 ACSM1 EXON Synonymous_V55V exm1223351 16 20702423 [A/G] NM_052956 ACSM1 EXON Missense_R30W exm1223352 16 20702429 [A/G] NM_052956 ACSM1 EXON Missense_R28C exm1223363 16 20748246 [T/G] NM_017736 THUMPD1 EXON Missense_Q340K exm1223366 16 20748299 [A/G] NM_017736 THUMPD1 EXON Missense_T322M exm1223367 16 20748331 [A/C] NM_017736 THUMPD1 EXON Missense_E311D exm1223370 16 20748389 [A/G] NM_017736 THUMPD1 EXON Missense_A292V exm1223398 16 20750386 [T/C] NM_017736 THUMPD1 EXON Missense_D80G exm1223400 16 20752865 [T/C] NM_017736 THUMPD1 EXON Missense_N66S exm1223407 16 20752965 [T/C] NM_017736 THUMPD1 EXON Missense_A33T exm1223411 16 20752983 [T/G] NM_017736 THUMPD1 EXON Missense_R27S exm1223420 16 20781366 [T/C] NM_202000,NM_005622 ACSM3,ACSM3 EXON Missense_R4C,Missense_R4C exm1223422 16 20781417 [A/G] NM_202000,NM_005622 ACSM3,ACSM3 EXON Missense_I21V,Missense_I21V exm1223436 16 20787240 [T/C] NM_202000,NM_005622 ACSM3,ACSM3 EXON Missense_L100P,Missense_L100P exm2224380 16 20787305 [T/C] NM_202000,NM_005622 ACSM3,ACSM3 EXON Missense_R122W,Missense_R122W exm1223450 16 20792043 [A/C] NM_202000,NM_005622,NM_080663 ACSM3,ACSM3,ERI2 EXON Missense_S216R,Missense_S216R,Missense_L303R exm1223453 16 20792096 [C/G] NM_202000,NM_005622,NM_080663 ACSM3,ACSM3,ERI2 EXON Missense_F233L,Missense_F233L,Silent exm1223454 16 20792122 [T/C] NM_202000,NM_005622,NM_080663 ACSM3,ACSM3,ERI2 EXON Missense_P242L,Missense_P242L,Silent exm1223458 16 20792321 [G/C] NM_202000,NM_005622,NM_080663 ACSM3,ACSM3,ERI2 EXON Missense_D270H,Missense_D270H,Silent exm2252485 16 20792347 [A/G] NM_202000,NM_005622,NM_080663 ACSM3,ACSM3,ERI2 EXON Synonymous_T278T,Synonymous_T278T,Silent exm1223461 16 20792388 [A/G] NM_202000,NM_005622,NM_080663 ACSM3,ACSM3,ERI2 EXON Nonsense_W292X,Nonsense_W292X,Silent exm1223463 16 20792417 [T/C] NM_202000,NM_005622,NM_080663 ACSM3,ACSM3,ERI2 EXON Missense_H302Y,Missense_H302Y,Silent exm1223465 16 20792435 [A/C] NM_202000,NM_005622,NM_080663 ACSM3,ACSM3,ERI2 EXON Missense_P308T,Missense_P308T,Silent exm1223467 16 20793081 [T/C] NM_202000,NM_005622,NM_080663 ACSM3,ACSM3,ERI2 EXON Nonsense_R331X,Nonsense_R331X,Silent exm1223470 16 20796338 [A/G] NM_202000,NM_005622,NM_080663 ACSM3,ACSM3,ERI2 EXON Missense_S351N,Missense_S351N,Silent exm1223474 16 20796387 [C/G] NM_202000,NM_005622,NM_080663 ACSM3,ACSM3,ERI2 EXON Missense_K367N,Missense_K367N,Silent exm1849969 16 20801954 [A/G] NM_005622,NM_080663 ACSM3,ERI2 EXON Missense_D424N,Silent exm1223485 16 20802007 [C/G] NM_005622,NM_080663 ACSM3,ERI2 EXON Nonsense_Y441X,Silent exm1223487 16 20802172 [T/C] NM_005622,NM_080663 ACSM3,ERI2 EXON Silent,Missense_G272D exm1223493 16 20803376 [A/G] NM_005622,NM_080663 ACSM3,ERI2 EXON Missense_G460E,Silent exm1223498 16 20803558 [T/C] NM_005622,NM_080663 ACSM3,ERI2 EXON Synonymous_G485G,Silent exm1223521 16 20809303 [T/C] NM_080663,NM_001142725 ERI2,ERI2 EXON Silent,Missense_V607I exm1223527 16 20809773 [A/G] NM_080663,NM_001142725 ERI2,ERI2 EXON Silent,Missense_L450S exm1223529 16 20809915 [G/C] NM_080663,NM_001142725 ERI2,ERI2 EXON Silent,Missense_P403A exm1223533 16 20810067 [T/C] NM_080663,NM_001142725 ERI2,ERI2 EXON Silent,Missense_Y352C exm1223534 16 20810074 [A/G] NM_080663,NM_001142725 ERI2,ERI2 EXON Silent,Missense_P350S exm1223535 16 20810266 [T/C] NM_080663,NM_001142725 ERI2,ERI2 EXON Silent,Missense_I286V exm1223541 16 20810665 [T/C] NM_080663,NM_001142725 ERI2,ERI2 EXON Missense_D218N,Missense_D218N exm1223552 16 20814170 [T/C] NM_080663,NM_001142725 ERI2,ERI2 EXON Missense_Q84R,Missense_Q84R exm1223562 16 20814972 [T/C] NM_080663,NM_001142725 ERI2,ERI2 EXON Missense_R15K,Missense_R15K exm1223579 16 20826286 [A/G] NM_001144924,NM_030941,NM_001199053 LOC81691,LOC81691,LOC81691 EXON Missense_V97I,Missense_V97I,Missense_V97I exm1223585 16 20827507 [A/G] NM_001144924,NM_030941,NM_001199053 LOC81691,LOC81691,LOC81691 EXON Missense_A150T,Missense_A150T,Missense_A150T exm1850005 16 20833162 [A/T] NM_001144924,NM_030941,NM_001199053 LOC81691,LOC81691,LOC81691 EXON Missense_V185E,Missense_V185E,Missense_V185E exm1223598 16 20838700 [T/C] NM_001144924,NM_030941,NM_001199053 LOC81691,LOC81691,LOC81691 EXON Missense_T329I,Missense_T329I,Missense_T329I exm1223602 16 20839848 [A/G] NM_001144924,NM_030941,NM_001199053 LOC81691,LOC81691,LOC81691 EXON Missense_G383S,Missense_G383S,Missense_G383S exm1223609 16 20844375 [A/G] NM_001144924,NM_030941,NM_001199053 LOC81691,LOC81691,LOC81691 EXON Missense_R438Q,Missense_R438Q,Missense_R438Q exm1223616 16 20851680 [A/G] NM_001144924,NM_030941,NM_001199053 LOC81691,LOC81691,LOC81691 EXON Missense_T506A,Missense_T506A,Missense_T506A exm1223623 16 20855335 [T/G] NM_001144924,NM_030941,NM_001199053 LOC81691,LOC81691,LOC81691 EXON Silent,Missense_G569V,Missense_G569V exm1223626 16 20856030 [T/G] NM_001144924,NM_030941,NM_001199053 LOC81691,LOC81691,LOC81691 EXON Missense_G569V,Missense_G600V,Missense_G600V exm1223630 16 20856102 [A/G] NM_001144924,NM_030941,NM_001199053 LOC81691,LOC81691,LOC81691 EXON Missense_G593D,Missense_G624D,Missense_G624D exm1223634 16 20856540 [A/C] NM_001144924,NM_030941,NM_001199053 LOC81691,LOC81691,LOC81691 EXON Missense_P670T,Missense_P701T,Missense_P701T exm1223635 16 20856541 [A/C] NM_001144924,NM_030941,NM_001199053 LOC81691,LOC81691,LOC81691 EXON Missense_P670H,Missense_P701H,Missense_P701H exm1223638 16 20857562 [T/C] NM_001144924,NM_030941,NM_001199053 LOC81691,LOC81691,LOC81691 EXON Missense_P684L,Missense_P715L,Missense_P715L exm1223674 16 20873591 [A/T] NM_173475 DCUN1D3 EXON Missense_R90S exm1223678 16 20873709 [A/G] NM_173475 DCUN1D3 EXON Missense_I51T exm1223691 16 20926917 [T/C] NM_020424,NM_001128302,NM_001128301 LYRM1,LYRM1,LYRM1 EXON Missense_R14C,Missense_R14C,Missense_R14C exm1223692 16 20926918 [A/G] NM_020424,NM_001128302,NM_001128301 LYRM1,LYRM1,LYRM1 EXON Missense_R14H,Missense_R14H,Missense_R14H exm1223704 16 20927036 [T/C] NM_020424,NM_001128302,NM_001128301 LYRM1,LYRM1,LYRM1 EXON Synonymous_N53N,Synonymous_N53N,Synonymous_N53N exm1223705 16 20927037 [A/G] NM_020424,NM_001128302,NM_001128301 LYRM1,LYRM1,LYRM1 Silent,Silent,Silent exm1223712 16 20931480 [A/G] NM_020424,NM_001128302,NM_001128301 LYRM1,LYRM1,LYRM1 EXON Missense_E66K,Missense_E66K,Missense_E66K exm1223720 16 20935350 [T/C] NM_020424,NM_001128302,NM_001128301 LYRM1,LYRM1,LYRM1 EXON Missense_P94L,Missense_P94L,Missense_P94L exm1223721 16 20935362 [A/G] NM_020424,NM_001128302,NM_001128301 LYRM1,LYRM1,LYRM1 EXON Missense_R98Q,Missense_R98Q,Missense_R98Q exm1223722 16 20935371 [A/G] NM_020424,NM_001128302,NM_001128301 LYRM1,LYRM1,LYRM1 EXON Missense_R101Q,Missense_R101Q,Missense_R101Q exm2224392 16 20944511 [A/G] NM_017539 DNAH3 EXON Nonsense_R4106X exm1223735 16 20944646 [A/G] NM_017539 DNAH3 EXON Missense_H4061Y exm1850083 16 20944655 [T/C] NM_017539 DNAH3 EXON Missense_M4058V exm1223749 16 20946807 [C/G] NM_017539 DNAH3 EXON Missense_E3954Q exm1223757 16 20948158 [T/C] NM_017539 DNAH3 EXON Missense_R3891Q exm1223759 16 20948167 [T/C] NM_017539 DNAH3 EXON Missense_K3888R exm1223760 16 20948173 [A/G] NM_017539 DNAH3 EXON Missense_L3886P exm1223764 16 20952796 [A/T] NM_017539 DNAH3 EXON Missense_M3861L exm1223770 16 20955976 [T/C] NM_017539 DNAH3 EXON Missense_D3785N exm1223771 16 20959821 [A/G] NM_017539 DNAH3 EXON Missense_P3776L exm1223776 16 20959918 [A/G] NM_017539 DNAH3 EXON Missense_R3744W exm1223783 16 20963832 [T/C] NM_017539 DNAH3 EXON Missense_R3704K exm1223786 16 20963860 [T/G] NM_017539 DNAH3 EXON Missense_P3695T exm1223790 16 20966168 [A/C] NM_017539 DNAH3 EXON Missense_V3680F exm1223797 16 20966273 [A/G] NM_017539 DNAH3 EXON Missense_R3645C exm1223800 16 20966291 [T/G] NM_017539 DNAH3 EXON Missense_L3639I exm1223806 16 20966362 [T/C] NM_017539 DNAH3 EXON Missense_Y3615C exm1850120 16 20970520 [T/C] NM_017539 DNAH3 EXON Missense_S3603G exm1850121 16 20970523 [T/C] NM_017539 DNAH3 EXON Missense_E3602K exm1223811 16 20970576 [T/G] NM_017539 DNAH3 EXON Missense_A3584D exm1223815 16 20970633 [A/G] NM_017539 DNAH3 EXON Missense_M3565T exm1223821 16 20974614 [A/G] NM_017539 DNAH3 EXON Missense_P3531L exm1223823 16 20974650 [A/G] NM_017539 DNAH3 EXON Missense_A3519V exm1223832 16 20974740 [T/C] NM_017539 DNAH3 EXON Missense_R3489Q exm1223834 16 20974824 [C/G] NM_017539 DNAH3 EXON Missense_P3461R exm2224394 16 20974837 [T/C] NM_017539 DNAH3 EXON Missense_E3457K exm1223837 16 20974844 [A/C] NM_017539 DNAH3 EXON Missense_W3454C exm1223839 16 20974857 [T/C] NM_017539 DNAH3 EXON Missense_Y3450C exm1223845 16 20975040 [A/G] NM_017539 DNAH3 EXON Missense_T3389M exm1223848 16 20975080 [A/G] NM_017539 DNAH3 EXON Missense_L3376F exm1223855 16 20975230 [T/G] NM_017539 DNAH3 EXON Missense_I3326L exm1223863 16 20975325 [T/A] NM_017539 DNAH3 EXON Missense_Y3294F exm1223864 16 20975331 [A/G] NM_017539 DNAH3 EXON Missense_M3292T exm1223868 16 20975457 [T/C] NM_017539 DNAH3 EXON Missense_K3250R exm1223869 16 20975505 [T/C] NM_017539 DNAH3 EXON Missense_H3234R exm1850132 16 20975593 [A/G] NM_017539 DNAH3 EXON Missense_L3205F exm2224396 16 20975628 [T/C] NM_017539 DNAH3 EXON Missense_N3193S exm1223880 16 20975647 [T/C] NM_017539 DNAH3 EXON Missense_V3187M exm1223883 16 20975682 [T/C] NM_017539 DNAH3 EXON Missense_R3175H exm1223890 16 20975785 [T/C] NM_017539 DNAH3 EXON Missense_I3141V exm1223893 16 20975817 [A/G] NM_017539 DNAH3 EXON Missense_I3130T exm1223894 16 20975853 [A/G] NM_017539 DNAH3 EXON Missense_A3118V exm1223895 16 20975854 [T/C] NM_017539 DNAH3 EXON Missense_A3118T exm1223897 16 20975870 [T/C] NM_017539 DNAH3 EXON Missense_M3112I exm1223899 16 20975877 [T/C] NM_017539 DNAH3 EXON Missense_N3110S exm1223912 16 20976134 [T/C] NM_017539 DNAH3 EXON Nonsense_W3024X exm2274825 16 20976150 [T/C] NM_017539 DNAH3 EXON Missense_Q3019R exm1223914 16 20976156 [T/C] NM_017539 DNAH3 EXON Missense_R3017Q exm1223922 16 20976360 [T/G] NM_017539 DNAH3 EXON Missense_K2949T exm1223935 16 20976570 [A/G] NM_017539 DNAH3 EXON Missense_S2879L exm1223937 16 20976609 [T/C] NM_017539 DNAH3 EXON Missense_H2866R exm1223945 16 20981162 [T/C] NM_017539 DNAH3 EXON Missense_I2804V exm1223946 16 20981226 [G/C] NM_017539 DNAH3 EXON Missense_I2782M exm1223952 16 20981303 [G/C] NM_017539 DNAH3 EXON Missense_E2757Q exm2272352 16 20986506 [T/C] NM_017539 DNAH3 Silent exm1223960 16 20986640 [A/G] NM_017539 DNAH3 EXON Missense_T2725M exm1223965 16 20986704 [A/G] NM_017539 DNAH3 EXON Nonsense_Q2704X exm1223967 16 20990671 [A/C] NM_017539 DNAH3 EXON Missense_L2686R exm1223968 16 20990696 [A/G] NM_017539 DNAH3 EXON Missense_R2678C exm1223972 16 20990728 [T/C] NM_017539 DNAH3 EXON Missense_S2667N exm1223975 16 20990740 [A/G] NM_017539 DNAH3 EXON Missense_T2663M exm1850170 16 20990864 [T/C] NM_017539 DNAH3 EXON Missense_V2622M exm1223988 16 20994145 [T/C] NM_017539 DNAH3 EXON Missense_C2586Y exm1223989 16 20994160 [A/G] NM_017539 DNAH3 EXON Missense_P2581L exm1224020 16 20996745 [T/C] NM_017539 DNAH3 EXON Missense_R2440Q exm1224027 16 20996868 [T/A] NM_017539 DNAH3 EXON Missense_I2399N exm1224032 16 20996988 [T/C] NM_017539 DNAH3 EXON Missense_R2359Q exm1850196 16 20999070 [T/C] NM_017539 DNAH3 EXON Missense_R2276Q exm1224051 16 20999124 [C/G] NM_017539 DNAH3 EXON Missense_A2258G exm1224053 16 20999139 [A/G] NM_017539 DNAH3 EXON Missense_T2253I exm1224056 16 20999274 [T/C] NM_017539 DNAH3 EXON Missense_M2239V exm2252490 16 20999314 [A/G] NM_017539 DNAH3 EXON Synonymous_S2225S exm1224068 16 21008629 [T/C] NM_017539 DNAH3 EXON Missense_G2193R exm1224074 16 21008706 [C/G] NM_017539 DNAH3 EXON Missense_G2167A exm1224100 16 21031010 [A/C] NM_017539 DNAH3 EXON Missense_M1986I exm1224105 16 21031053 [T/C] NM_017539 DNAH3 EXON Missense_R1972K exm1224112 16 21033398 [A/C] NM_017539 DNAH3 EXON Missense_V1891F exm1224123 16 21038386 [T/C] NM_017539 DNAH3 EXON Missense_A1835T exm1224128 16 21042411 [T/C] NM_017539 DNAH3 EXON Missense_I1799V exm1224129 16 21042438 [A/T] NM_017539 DNAH3 EXON Missense_I1790F exm1224130 16 21042446 [T/C] NM_017539 DNAH3 EXON Missense_R1787H exm1224132 16 21042467 [A/G] NM_017539 DNAH3 EXON Missense_A1780V exm1224133 16 21042477 [A/G] NM_017539 DNAH3 EXON Missense_R1777W exm1224139 16 21042551 [A/G] NM_017539 DNAH3 EXON Missense_T1752M exm1224141 16 21042591 [A/G] NM_017539 DNAH3 EXON Missense_F1739L exm1224149 16 21048075 [T/A] NM_017539 DNAH3 EXON Missense_K1682N exm1224152 16 21048162 [T/C] NM_017539 DNAH3 EXON Missense_I1653M exm1224156 16 21049155 [A/C] NM_017539 DNAH3 EXON Missense_S1626R exm1850244 16 21049196 [A/C] NM_017539 DNAH3 EXON Missense_A1613S exm1224165 16 21049286 [T/C] NM_017539 DNAH3 EXON Missense_V1583I exm1224166 16 21051209 [G/C] NM_017539 DNAH3 EXON Missense_I1565M exm1224170 16 21051256 [A/G] NM_017539 DNAH3 EXON Missense_R1550W exm1224171 16 21053360 [T/C] NM_017539 DNAH3 EXON Missense_D1543N exm2224401 16 21053468 [A/G] NM_017539 DNAH3 EXON Missense_R1507W exm1224182 16 21060901 [T/C] NM_017539 DNAH3 EXON Missense_N1484D exm1224184 16 21060982 [T/C] NM_017539 DNAH3 EXON Missense_D1457N exm1224191 16 21063033 [A/G] NM_017539 DNAH3 EXON Missense_S1399F exm1850263 16 21063184 [T/C] NM_017539 DNAH3 EXON Missense_D1349N exm1224200 16 21065741 [A/C] NM_017539 DNAH3 EXON Missense_A1347S exm1224205 16 21069423 [A/G] NM_017539 DNAH3 EXON Missense_A1303V exm1224212 16 21071622 [T/C] NM_017539 DNAH3 EXON Missense_R1259Q exm1224213 16 21071623 [A/G] NM_017539 DNAH3 EXON Nonsense_R1259X exm1224214 16 21071666 [T/G] NM_017539 DNAH3 EXON Missense_E1244D exm1224220 16 21073933 [A/G] NM_017539 DNAH3 EXON Missense_P1197L exm1850276 16 21078710 [T/C] NM_017539 DNAH3 EXON Missense_D1138N exm1224233 16 21080762 [A/G] NM_017539 DNAH3 EXON Missense_Y1119H exm1850278 16 21080809 [A/G] NM_017539 DNAH3 EXON Missense_I1103T exm1224239 16 21080891 [T/C] NM_017539 DNAH3 EXON Missense_I1076V exm1224242 16 21080917 [A/T] NM_017539 DNAH3 Silent exm1224247 16 21082125 [A/C] NM_017539 DNAH3 EXON Missense_I1036S exm1224263 16 21093012 [T/C] NM_017539 DNAH3 EXON Missense_E972K exm1224271 16 21098184 [A/G] NM_017539 DNAH3 EXON Nonsense_R955X exm1224272 16 21098187 [T/C] NM_017539 DNAH3 EXON Missense_D954N exm1224276 16 21098318 [A/G] NM_017539 DNAH3 EXON Missense_T910M exm1224277 16 21098323 [C/G] NM_017539 DNAH3 EXON Missense_R908S exm1224287 16 21109969 [T/C] NM_017539 DNAH3 EXON Missense_K830E exm1224297 16 21115844 [A/G] NM_017539 DNAH3 EXON Missense_R772W exm1224315 16 21123123 [A/C] NM_017539 DNAH3 EXON Missense_K641N exm1224317 16 21123315 [A/G] NM_017539 DNAH3 EXON Missense_T640M exm1224324 16 21123375 [A/G] NM_017539 DNAH3 EXON Missense_T620M exm1224328 16 21123396 [T/C] NM_017539 DNAH3 EXON Missense_Y613C exm1224332 16 21128555 [T/C] NM_017539 DNAH3 EXON Missense_V595I exm1224334 16 21128600 [T/C] NM_017539 DNAH3 EXON Missense_A580T exm1224340 16 21132127 [A/G] NM_017539 DNAH3 EXON Missense_R545W exm1850327 16 21132148 [A/G] NM_017539 DNAH3 EXON Missense_F538L exm1224344 16 21133313 [A/G] NM_017539 DNAH3 EXON Missense_R513C exm1224345 16 21133322 [T/C] NM_017539 DNAH3 EXON Missense_E510K exm1224347 16 21133339 [A/G] NM_017539 DNAH3 EXON Missense_S504F exm1224360 16 21136656 [T/C] NM_017539 DNAH3 EXON Missense_R415Q exm1224363 16 21139011 [T/C] NM_017539 DNAH3 EXON Missense_N402S exm1224366 16 21139071 [A/G] NM_017539 DNAH3 EXON Missense_P382L exm1224376 16 21145584 [A/C] NM_017539 DNAH3 EXON Missense_A360S exm1224381 16 21145645 [T/C] NM_017539 DNAH3 EXON Nonsense_W339X exm1224387 16 21145716 [A/G] NM_017539 DNAH3 EXON Missense_R316C exm1224392 16 21147693 [T/C] NM_017539 DNAH3 EXON Missense_V280M exm1224402 16 21151913 [T/G] NM_017539 DNAH3 EXON Missense_Q214K exm1224404 16 21151939 [A/G] NM_017539 DNAH3 EXON Missense_P205L exm1850346 16 21151945 [A/G] NM_017539 DNAH3 EXON Missense_M203T exm2272353 16 21154385 [T/C] NM_017539 DNAH3 Silent exm1224417 16 21156630 [T/C] NM_017539 DNAH3 EXON Missense_S107N exm1224418 16 21156637 [A/C] NM_017539 DNAH3 EXON Nonsense_G105X exm1224422 16 21156688 [A/G] NM_017539 DNAH3 EXON Missense_R88C exm1224430 16 21157403 [T/C] NM_017539 DNAH3 EXON Missense_K42E exm1224431 16 21157406 [T/C] NM_017539 DNAH3 EXON Missense_A41T exm1224438 16 21170726 [T/C] NM_017539,NM_020422 DNAH3,TMEM159 EXON Missense_A13T,Silent exm1224447 16 21181846 [T/C] NM_020422 TMEM159 EXON Missense_S62L exm1224452 16 21185339 [A/G] NM_020422 TMEM159 EXON Missense_I92V exm1224454 16 21185354 [T/C] NM_020422 TMEM159 EXON Missense_F97L exm1224455 16 21185384 [A/G] NM_020422 TMEM159 EXON Missense_G107S exm1224465 16 21190853 [A/C] NM_020422 TMEM159 EXON Missense_E154D exm1224475 16 21208893 [T/C] NM_003460 ZP2 EXON Missense_A716T exm1224491 16 21210111 [A/G] NM_003460 ZP2 EXON Missense_S667F exm1224498 16 21211138 [T/G] NM_003460 ZP2 EXON Missense_H586N exm1224501 16 21212697 [T/C] NM_003460 ZP2 EXON Missense_V563M exm1224503 16 21212726 [A/G] NM_003460 ZP2 EXON Missense_P553L exm1224507 16 21212796 [T/C] NM_003460 ZP2 EXON Missense_V530I exm1224521 16 21213290 [A/T] NM_003460 ZP2 EXON Missense_F448I exm1224525 16 21213326 [T/C] NM_003460 ZP2 EXON Missense_V436I exm1224562 16 21218182 [T/C] NM_003460 ZP2 EXON Missense_I154V exm1224564 16 21218245 [T/C] NM_003460 ZP2 EXON Missense_M133V exm1224579 16 21221443 [T/A] NM_003460 ZP2 EXON Missense_H74Q exm1224580 16 21221447 [A/C] NM_003460 ZP2 EXON Missense_W73L exm1224585 16 21222672 [A/C] NM_003460 ZP2 EXON Missense_G36V exm2252493 16 21222863 [T/C] NM_003460 ZP2 EXON Synonymous_A2A exm1224601 16 21245101 [G/C] NM_145865 ANKS4B EXON Missense_E15Q exm1224611 16 21261309 [A/G] NM_145865 ANKS4B EXON Missense_K141R exm1224612 16 21261314 [A/G] NM_145865 ANKS4B EXON Missense_A143T exm1224615 16 21261345 [T/C] NM_145865 ANKS4B EXON Missense_L153P exm1224620 16 21261569 [A/G] NM_145865 ANKS4B EXON Missense_R228G exm1224623 16 21261685 [G/C] NM_145865 ANKS4B EXON Synonymous_L266L exm2252494 16 21261685 [G/C] NM_145865 ANKS4B EXON Synonymous_L266L exm1224631 16 21261908 [A/G] NM_145865 ANKS4B EXON Missense_D341N exm1224633 16 21261924 [T/C] NM_145865 ANKS4B EXON Missense_T346M exm2272428 16 21264441 [T/G] exm1224642 16 21270104 [A/G] NM_001888,NM_001014444 CRYM,CRYM EXON Missense_X315Q,Missense_X273Q exm1224643 16 21270140 [T/C] NM_001888,NM_001014444 CRYM,CRYM EXON Missense_A303T,Missense_A261T exm1224646 16 21272635 [C/G] NM_001888,NM_001014444 CRYM,CRYM EXON Missense_E274Q,Missense_E232Q exm1224661 16 21279024 [A/T] NM_001888,NM_001014444 CRYM,CRYM EXON Missense_E175V,Missense_E133V exm1224662 16 21279025 [A/C] NM_001888,NM_001014444 CRYM,CRYM EXON Nonsense_E175X,Nonsense_E133X exm1224664 16 21279043 [A/G] NM_001888,NM_001014444 CRYM,CRYM EXON Missense_R169C,Missense_R127C exm1224670 16 21281179 [T/C] NM_001888,NM_001014444 CRYM,CRYM EXON Missense_I141V,Missense_I99V exm1224811 16 21624036 [A/G] NM_016025,NM_001077180 METTL9,METTL9 EXON Missense_Q79R,Missense_Q79R exm1224816 16 21636365 [A/G] NM_016025,NM_001077180 METTL9,METTL9 EXON Missense_S227N,Missense_S227N exm1224822 16 21654459 [T/C] NM_016025,NM_001077180,NM_005849 METTL9,METTL9,IGSF6 EXON Silent,Silent,Missense_R201H exm1850872 16 21654460 [A/G] NM_016025,NM_001077180,NM_005849 METTL9,METTL9,IGSF6 EXON Silent,Silent,Missense_R201C exm1224825 16 21654892 [T/C] NM_016025,NM_001077180,NM_005849 METTL9,METTL9,IGSF6 EXON Silent,Silent,Missense_E188K exm1224829 16 21655634 [T/C] NM_016025,NM_001077180,NM_005849 METTL9,METTL9,IGSF6 EXON Silent,Silent,Missense_V171M exm1224833 16 21655691 [A/G] NM_016025,NM_001077180,NM_005849 METTL9,METTL9,IGSF6 EXON Silent,Silent,Missense_R152W exm1224841 16 21658498 [A/G] NM_016025,NM_001077180,NM_005849 METTL9,METTL9,IGSF6 EXON Silent,Silent,Missense_A128V exm1850885 16 21658734 [T/C] NM_016025,NM_001077180,NM_005849 METTL9,METTL9,IGSF6 EXON Silent,Silent,Missense_I49M exm1224870 16 21689861 [T/C] NM_144672 OTOA EXON Missense_S9F exm1224871 16 21689879 [A/T] NM_144672 OTOA EXON Missense_F15Y exm1224886 16 21693115 [A/G] NM_144672 OTOA EXON Missense_R79Q exm1224920 16 21709177 [T/C] NM_144672,NM_001161683 OTOA,OTOA EXON Missense_T274M,Missense_T195M exm1224960 16 21728261 [A/G] NM_144672,NM_001161683,NM_170664 OTOA,OTOA,OTOA EXON Missense_V508M,Missense_V429M,Missense_V184M exm1224961 16 21728262 [T/C] NM_144672,NM_001161683,NM_170664 OTOA,OTOA,OTOA EXON Missense_V508A,Missense_V429A,Missense_V184A exm1224992 16 21739665 [T/C] NM_144672,NM_001161683,NM_170664 OTOA,OTOA,OTOA EXON Missense_A707V,Missense_A628V,Missense_A383V exm1224994 16 21739752 [A/G] NM_144672,NM_001161683,NM_170664 OTOA,OTOA,OTOA EXON Missense_G736E,Missense_G657E,Missense_G412E exm1225043 16 21973828 [A/G] NM_003366 UQCRC2 EXON Missense_R127Q exm1225046 16 21974107 [A/G] NM_003366 UQCRC2 EXON Missense_N139D exm1225049 16 21974134 [A/C] NM_003366 UQCRC2 EXON Missense_R148S exm1225053 16 21976750 [T/C] NM_003366 UQCRC2 EXON Missense_A179V exm1225055 16 21976762 [A/G] NM_003366 UQCRC2 EXON Missense_R183Q exm1225067 16 21982936 [A/G] NM_003366 UQCRC2 EXON Missense_R254H exm1225075 16 21983430 [A/C] NM_003366 UQCRC2 EXON Missense_Q318P exm1225097 16 21995737 [T/C] NM_173806,NR_033694 PDZD9,PDZD9 EXON Missense_V156M,Silent exm1225124 16 22092067 [A/C] NM_001164579 C16orf52 EXON Missense_N124H exm1225130 16 22111624 [A/T] NM_173615 VWA3A EXON Missense_Q112L exm1225135 16 22122273 [T/C] NM_173615 VWA3A EXON Missense_A216V exm2224440 16 22126672 [T/C] NM_173615 VWA3A EXON Nonsense_Q232X exm1225142 16 22128153 [T/G] NM_173615 VWA3A EXON Missense_F297V exm1225151 16 22130224 [A/G] NM_173615 VWA3A EXON Missense_H331R exm1225153 16 22130235 [T/C] NM_173615 VWA3A EXON Missense_R335W exm1225154 16 22130236 [A/G] NM_173615 VWA3A EXON Missense_R335Q exm1225155 16 22130242 [T/C] NM_173615 VWA3A EXON Missense_M337T exm1225160 16 22132337 [A/C] NM_173615 VWA3A EXON Missense_P389T exm1225162 16 22132376 [T/A] NM_173615 VWA3A EXON Missense_N402Y exm1225167 16 22134476 [A/G] NM_173615 VWA3A EXON Missense_Y476C exm1225169 16 22134955 [T/C] NM_173615 VWA3A EXON Missense_R487W exm1225170 16 22134964 [A/G] NM_173615 VWA3A EXON Missense_E490K exm1225171 16 22134971 [A/G] NM_173615 VWA3A EXON Missense_R492Q exm1225174 16 22137603 [A/G] NM_173615 VWA3A EXON Missense_C546Y exm1225176 16 22142546 [A/G] NM_173615 VWA3A EXON Missense_S558N exm1225181 16 22142602 [T/C] NM_173615 VWA3A Silent exm1225184 16 22142923 [G/C] NM_173615 VWA3A EXON Missense_R582P exm2224441 16 22142958 [T/C] NM_173615 VWA3A EXON Missense_R594W exm1225190 16 22144257 [A/G] NM_173615 VWA3A EXON Missense_G637S exm1225192 16 22144263 [A/G] NM_173615 VWA3A EXON Missense_D639N exm1225193 16 22144266 [T/C] NM_173615 VWA3A EXON Missense_L640F exm1225195 16 22144284 [A/C] NM_173615 VWA3A EXON Missense_L646I exm1225199 16 22144309 [T/C] NM_173615 VWA3A EXON Missense_M654T exm1225201 16 22144318 [T/C] NM_173615 VWA3A EXON Missense_T657I exm1225213 16 22149688 [T/C] NM_173615 VWA3A EXON Missense_F716S exm1225214 16 22149726 [C/G] NM_173615 VWA3A EXON Missense_L729V exm1225226 16 22153998 [A/G] NM_173615 VWA3A EXON Missense_Y835C exm1225232 16 22155629 [A/G] NM_173615 VWA3A EXON Missense_N885S exm1225236 16 22157582 [A/C] NM_173615 VWA3A EXON Missense_T919K exm1225241 16 22157636 [A/G] NM_173615 VWA3A EXON Missense_Y937C exm1225249 16 22159551 [A/G] NM_173615 VWA3A EXON Missense_M970V exm1225251 16 22159612 [A/G] NM_173615 VWA3A EXON Missense_R990Q exm1225254 16 22161136 [T/C] NM_173615 VWA3A EXON Missense_F1005L exm1225266 16 22162102 [A/C] NM_173615 VWA3A EXON Missense_E1072D exm1225273 16 22163875 [A/G] NM_173615 VWA3A EXON Missense_G1109R exm2224443 16 22163945 [T/C] NM_173615 VWA3A EXON Missense_I1132T exm1225280 16 22166976 [A/C] NM_173615 VWA3A EXON Missense_Q1165P exm1225290 16 22237118 [A/G] NM_013302 EEF2K EXON Missense_H23R exm1225297 16 22237273 [C/G] NM_013302 EEF2K EXON Missense_P75A exm1225300 16 22255972 [T/C] NM_013302 EEF2K EXON Nonsense_Q90X exm1225316 16 22262013 [G/C] NM_013302 EEF2K Silent exm1225321 16 22262513 [T/G] NM_013302 EEF2K EXON Missense_G163V exm2252501 16 22262526 [T/C] NM_013302 EEF2K EXON Synonymous_Y167Y exm1225330 16 22262582 [A/G] NM_013302 EEF2K EXON Missense_R186H exm1225339 16 22268112 [T/C] NM_013302 EEF2K EXON Missense_P221L exm1225342 16 22268189 [T/C] NM_013302 EEF2K EXON Missense_R247C exm1225346 16 22268214 [T/C] NM_013302 EEF2K EXON Missense_P255L exm1225355 16 22268677 [T/C] NM_013302 EEF2K EXON Missense_T291M exm1225362 16 22269064 [T/G] NM_013302 EEF2K EXON Missense_D334E exm1225365 16 22269867 [A/G] NM_013302 EEF2K EXON Missense_Q361R exm1225368 16 22269906 [A/G] NM_013302 EEF2K EXON Missense_R374H exm1225379 16 22270016 [T/C] NM_013302 EEF2K EXON Missense_H411Y exm1225382 16 22271826 [A/C] NM_013302 EEF2K EXON Missense_D425E exm1225384 16 22274431 [T/G] NM_013302 EEF2K EXON Nonsense_E434X exm1225386 16 22274455 [A/G] NM_013302 EEF2K EXON Missense_G442R exm1225414 16 22278068 [T/G] NM_013302 EEF2K EXON Missense_E545D exm1225417 16 22278144 [A/G] NM_013302 EEF2K EXON Missense_G571R exm1225420 16 22278183 [A/G] NM_013302 EEF2K EXON Missense_D584N exm1225422 16 22284975 [T/G] NM_013302 EEF2K EXON Missense_F598C exm1225424 16 22285007 [A/G] NM_013302 EEF2K EXON Missense_D609N exm1225429 16 22285049 [A/G] NM_013302 EEF2K EXON Missense_G623S exm1225434 16 22291535 [A/G] NM_013302 EEF2K EXON Missense_E636K exm1225436 16 22291572 [T/C] NM_013302 EEF2K EXON Missense_T648M exm1851261 16 22291613 [A/G] NM_013302 EEF2K EXON Missense_E662K exm1225441 16 22291619 [T/C] NM_013302 EEF2K EXON Missense_R664W exm1225442 16 22291620 [A/G] NM_013302 EEF2K EXON Missense_R664Q exm1225444 16 22291670 [A/G] NM_013302 EEF2K EXON Missense_G681R exm1225447 16 22295277 [A/G] NM_013302 EEF2K EXON Missense_Y713C exm1225457 16 22319517 [T/G] NR_047581,NM_001258036,NM_001258035,NM_001258034,NM_001258033,NM_018119 POLR3E,POLR3E,POLR3E,POLR3E,POLR3E,POLR3E EXON Silent,Missense_S46A,Missense_S10A,Silent,Missense_S46A,Missense_S46A exm2274828 16 22319518 [T/C] NR_047581,NM_001258036,NM_001258035,NM_001258034,NM_001258033,NM_018119 POLR3E,POLR3E,POLR3E,POLR3E,POLR3E,POLR3E EXON Silent,Missense_S46L,Missense_S10L,Silent,Missense_S46L,Missense_S46L exm1225459 16 22320292 [A/G] NR_047581,NM_001258036,NM_001258035,NM_001258034,NM_001258033,NM_018119 POLR3E,POLR3E,POLR3E,POLR3E,POLR3E,POLR3E EXON Silent,Missense_R71H,Missense_R35H,Missense_R35H,Missense_R71H,Missense_R71H exm1225465 16 22320804 [T/C] NR_047581,NM_001258036,NM_001258035,NM_001258034,NM_001258033,NM_018119 POLR3E,POLR3E,POLR3E,POLR3E,POLR3E,POLR3E EXON Silent,Missense_R113C,Missense_R77C,Missense_R77C,Missense_R113C,Missense_R113C exm1225467 16 22320826 [A/G] NR_047581,NM_001258036,NM_001258035,NM_001258034,NM_001258033,NM_018119 POLR3E,POLR3E,POLR3E,POLR3E,POLR3E,POLR3E EXON Silent,Missense_R120K,Missense_R84K,Missense_R84K,Missense_R120K,Missense_R120K exm1851312 16 22327943 [T/C] NR_047581,NM_001258036,NM_001258035,NM_001258034,NM_001258033,NM_018119 POLR3E,POLR3E,POLR3E,POLR3E,POLR3E,POLR3E EXON Silent,Missense_R222C,Missense_R186C,Missense_R186C,Missense_R222C,Missense_R222C exm1225502 16 22328486 [T/C] NR_047581,NM_001258036,NM_001258035,NM_001258034,NM_001258033,NM_018119 POLR3E,POLR3E,POLR3E,POLR3E,POLR3E,POLR3E EXON Silent,Missense_T275M,Missense_T239M,Missense_T239M,Missense_T275M,Missense_T275M exm1225507 16 22330188 [A/C] NR_047581,NM_001258036,NM_001258035,NM_001258034,NM_001258033,NM_018119 POLR3E,POLR3E,POLR3E,POLR3E,POLR3E,POLR3E EXON Silent,Missense_P303T,Missense_P267T,Missense_P267T,Missense_P303T,Missense_P303T exm1225514 16 22334202 [T/C] NR_047581,NM_001258036,NM_001258035,NM_001258034,NM_001258033,NM_018119 POLR3E,POLR3E,POLR3E,POLR3E,POLR3E,POLR3E EXON Silent,Missense_P340S,Missense_P304S,Missense_P304S,Missense_P340S,Missense_P340S exm1225526 16 22335965 [A/G] NR_047581,NM_001258036,NM_001258035,NM_001258034,NM_001258033,NM_018119 POLR3E,POLR3E,POLR3E,POLR3E,POLR3E,POLR3E EXON Silent,Missense_T424A,Missense_T388A,Missense_T388A,Missense_T424A,Missense_T424A exm1225546 16 22337289 [T/C] NR_047581,NM_001258036,NM_001258035,NM_001258034,NM_001258033,NM_018119 POLR3E,POLR3E,POLR3E,POLR3E,POLR3E,POLR3E EXON Silent,Missense_M519T,Missense_M483T,Missense_M483T,Missense_M519T,Missense_M519T exm1225561 16 22339847 [T/C] NR_047581,NM_001258036,NM_001258035,NM_001258034,NM_001258033,NM_018119 POLR3E,POLR3E,POLR3E,POLR3E,POLR3E,POLR3E EXON Silent,Missense_A628V,Missense_A592V,Missense_A592V,Missense_A628V,Missense_A628V exm1851340 16 22343448 [A/G] NR_047581,NM_001258036,NM_001258035,NM_001258034,NM_001258033,NM_018119 POLR3E,POLR3E,POLR3E,POLR3E,POLR3E,POLR3E EXON Silent,Silent,Missense_R635Q,Missense_R635Q,Missense_R650Q,Missense_R671Q exm2260523 16 22345191 [A/G] NR_047581,NM_001258036,NM_001258035,NM_001258034,NM_001258033,NM_018119 POLR3E,POLR3E,POLR3E,POLR3E,POLR3E,POLR3E EXON Silent,Silent,Silent,Silent,Silent,Silent exm1225584 16 22358636 [T/C] NM_001802 CDR2 EXON Missense_K339E exm1225609 16 22360640 [G/C] NM_001802 CDR2 EXON Missense_P156A exm1225613 16 22360712 [T/G] NM_001802 CDR2 EXON Missense_Q132K exm1225630 16 22361172 [T/G] NM_001802 CDR2 Silent exm1225637 16 22385589 [G/C] NM_001802 CDR2 EXON Missense_E14D exm2264594 16 22793128 [A/C] NR_030385,NR_037517 MIR548D2,MIR548AA2 Silent,Silent exm1225697 16 22826046 [T/G] NM_006043 HS3ST2 EXON Missense_C39G exm1225700 16 22826115 [A/G] NM_006043 HS3ST2 EXON Missense_G62S exm1225739 16 22926872 [A/G] NM_006043 HS3ST2 EXON Missense_R365G exm2260524 16 22958684 [T/C] exm-rs6497618 16 23008602 [A/G] exm-rs8049603 16 23067260 [T/G] exm1225745 16 23079408 [T/C] NM_020718 USP31 EXON Missense_S1340G exm1225752 16 23079501 [A/G] NM_020718 USP31 EXON Missense_R1309C exm1225754 16 23079563 [A/G] NM_020718 USP31 EXON Missense_T1288M exm1225756 16 23079621 [T/C] NM_020718 USP31 EXON Missense_D1269N exm1225768 16 23079836 [T/C] NM_020718 USP31 EXON Missense_R1197Q exm1225770 16 23079849 [T/C] NM_020718 USP31 EXON Missense_G1193R exm1225772 16 23079872 [A/C] NM_020718 USP31 EXON Missense_R1185L exm2277089 16 23079912 [A/G] NM_020718 USP31 EXON Missense_S1172P exm1851662 16 23080019 [A/G] NM_020718 USP31 EXON Missense_P1136L exm1225782 16 23080094 [A/G] NM_020718 USP31 EXON Missense_S1111L exm1225788 16 23080205 [T/C] NM_020718 USP31 EXON Missense_R1074H exm1225793 16 23080313 [T/C] NM_020718 USP31 EXON Missense_S1038N exm1225803 16 23080493 [A/G] NM_020718 USP31 EXON Missense_P978L exm1225805 16 23080538 [A/G] NM_020718 USP31 EXON Missense_V963A exm1225809 16 23080584 [T/C] NM_020718 USP31 EXON Missense_V948M exm1225811 16 23080634 [A/C] NM_020718 USP31 EXON Missense_R931L exm2252506 16 23085071 [C/G] NM_020718 USP31 EXON Synonymous_P769P exm1225844 16 23091380 [T/C] NM_020718 USP31 EXON Missense_H688R exm1225849 16 23091466 [A/C] NM_020718 USP31 EXON Missense_Q659H exm1225864 16 23096952 [T/C] NM_020718 USP31 EXON Missense_A552T exm1851684 16 23096963 [A/G] NM_020718 USP31 EXON Missense_P548L exm1225868 16 23098422 [A/G] NM_020718 USP31 EXON Missense_I538T exm1225871 16 23098461 [T/C] NM_020718 USP31 EXON Missense_Y525C exm1225875 16 23099059 [A/T] NM_020718 USP31 EXON Missense_T505S exm1225878 16 23101994 [T/C] NM_020718 USP31 EXON Missense_I456V exm1225880 16 23102027 [A/C] NM_020718 USP31 EXON Missense_D445Y exm1225888 16 23113720 [T/C] NM_020718 USP31 EXON Missense_E385G exm1851691 16 23113762 [T/C] NM_020718 USP31 EXON Missense_Y371C exm1225895 16 23117726 [T/C] NM_020718 USP31 EXON Missense_Q285R exm1225937 16 23200702 [A/G] NM_001039 SCNN1G EXON Missense_V110I exm1225940 16 23200775 [T/C] NM_001039 SCNN1G EXON Missense_S134F exm1225949 16 23200879 [A/G] NM_001039 SCNN1G EXON Missense_G169S exm1225951 16 23200921 [A/G] NM_001039 SCNN1G EXON Missense_G183S exm1225955 16 23200963 [A/G] NM_001039 SCNN1G EXON Missense_E197K exm1225958 16 23203691 [A/G] NM_001039 SCNN1G EXON Missense_D213N exm1225963 16 23203830 [A/C] NM_001039 SCNN1G EXON Missense_T259N exm1851751 16 23221075 [A/T] NM_001039 SCNN1G EXON Missense_E361V exm1226005 16 23226071 [T/A] NM_001039 SCNN1G EXON Missense_L511Q exm1226011 16 23226429 [A/G] NM_001039 SCNN1G EXON Missense_N530S exm1226012 16 23226476 [A/G] NM_001039 SCNN1G EXON Missense_V546I exm1226014 16 23226597 [A/G] NM_001039 SCNN1G EXON Missense_R586H exm1226022 16 23226731 [T/C] NM_001039 SCNN1G EXON Missense_R631C exm1226025 16 23226775 [T/G] NM_001039 SCNN1G EXON Missense_M645I exm1226026 16 23226779 [T/G] NM_001039 SCNN1G EXON Missense_D647Y exm1226037 16 23360101 [A/G] NM_000336 SCNN1B EXON Missense_A61T exm1226049 16 23364238 [T/C] NM_000336 SCNN1B EXON Missense_S143F exm1226050 16 23364276 [T/C] NM_000336 SCNN1B EXON Missense_R156W exm1226063 16 23366809 [T/C] NM_000336 SCNN1B EXON Missense_R259W exm2267881 16 23375921 [A/G] NM_000336 SCNN1B Silent exm1226068 16 23379203 [A/G] NM_000336 SCNN1B EXON Missense_H268R exm1226069 16 23379257 [T/C] NM_000336 SCNN1B EXON Missense_S286L exm1226072 16 23379279 [T/C] NM_000336 SCNN1B EXON Synonymous_F293F exm1226091 16 23387068 [T/C] NM_000336 SCNN1B EXON Missense_R388C exm1226093 16 23387096 [T/G] NM_000336 SCNN1B EXON Missense_R397L exm1226096 16 23387134 [T/C] NM_000336 SCNN1B EXON Missense_R410C exm1226097 16 23387135 [A/G] NM_000336 SCNN1B EXON Missense_R410H exm1226098 16 23387159 [A/G] NM_000336 SCNN1B EXON Missense_R418Q exm2252508 16 23388514 [T/C] NM_000336 SCNN1B EXON Synonymous_S433S exm1851867 16 23388515 [A/G] NM_000336 SCNN1B EXON Missense_V434M exm1226104 16 23388540 [T/G] NM_000336 SCNN1B EXON Missense_G442V exm1226105 16 23388543 [T/C] NM_000336 SCNN1B EXON Missense_M443T exm1226107 16 23388679 [T/C] NM_000336 SCNN1B EXON Missense_M459T exm1851873 16 23388705 [G/C] NM_000336 SCNN1B EXON Missense_E468Q exm1226133 16 23391887 [A/G] NM_000336 SCNN1B EXON Missense_R563Q exm1226135 16 23391893 [A/G] NM_000336 SCNN1B EXON Missense_R565Q exm1226138 16 23391905 [T/C] NM_000336 SCNN1B EXON Missense_A569V exm1226143 16 23391964 [A/G] NM_000336 SCNN1B EXON Missense_G589S exm1226144 16 23391980 [T/C] NM_000336 SCNN1B EXON Missense_T594M exm1226147 16 23391989 [A/G] NM_000336 SCNN1B EXON Missense_R597H exm1226164 16 23400272 [A/G] NM_153603 COG7 EXON Missense_T761I exm1226169 16 23400362 [T/C] NM_153603 COG7 EXON Missense_R731H exm1226185 16 23404584 [T/C] NM_153603 COG7 EXON Missense_A658T exm1226193 16 23409402 [T/C] NM_153603 COG7 EXON Missense_A618T exm1226195 16 23409440 [A/G] NM_153603 COG7 EXON Missense_T605M exm1226201 16 23415100 [T/C] NM_153603 COG7 EXON Missense_R573Q exm1851902 16 23417530 [A/G] NM_153603 COG7 EXON Missense_L510P exm1226210 16 23417560 [T/C] NM_153603 COG7 EXON Missense_Y500C exm1226225 16 23428402 [T/C] NM_153603 COG7 EXON Missense_H393R exm1851925 16 23436141 [T/C] NM_153603 COG7 EXON Missense_R313K exm2252509 16 23436158 [A/G] NM_153603 COG7 EXON Synonymous_P307P exm1226232 16 23436229 [A/T] NM_153603 COG7 EXON Missense_I284F exm1226236 16 23444973 [T/C] NM_153603 COG7 EXON Missense_A235T exm1226246 16 23453879 [A/C] NM_153603 COG7 EXON Missense_V175L exm1226248 16 23456367 [A/G] NM_153603 COG7 Silent exm1226250 16 23456398 [T/C] NM_153603 COG7 EXON Missense_A136T exm1226262 16 23464230 [A/G] NM_153603 COG7 EXON Missense_A29V exm1226305 16 23489711 [G/C] NM_015044 GGA2 EXON Missense_A424P exm1226308 16 23489737 [T/C] NM_015044 GGA2 EXON Missense_D415G exm1226312 16 23491121 [A/C] NM_015044 GGA2 EXON Missense_V365G exm1226317 16 23491972 [T/A] NM_015044 GGA2 EXON Missense_S334T exm1226319 16 23492022 [T/C] NM_015044 GGA2 EXON Missense_R317Q exm1226324 16 23494262 [T/C] NM_015044 GGA2 EXON Missense_D288N exm1226330 16 23494312 [T/C] NM_015044 GGA2 EXON Missense_R271K exm1226332 16 23497353 [T/C] NM_015044 GGA2 EXON Missense_D261N exm1226336 16 23497372 [G/C] NM_015044 GGA2 EXON Missense_R254S exm1226344 16 23500012 [A/G] NM_015044 GGA2 EXON Missense_P165L exm1226348 16 23503040 [T/C] NM_015044 GGA2 EXON Missense_D145N exm1226360 16 23504772 [T/C] NM_015044 GGA2 EXON Missense_E87G exm1226376 16 23535717 [T/C] NR_003501,NM_001083614 EARS2,EARS2 EXON Silent,Missense_R516Q exm1226379 16 23536641 [T/G] NR_003501,NM_001083614 EARS2,EARS2 EXON Silent,Missense_K471T exm1226381 16 23536684 [T/C] NR_003501,NM_001083614 EARS2,EARS2 EXON Silent,Missense_S457G exm1226384 16 23540823 [A/C] NR_003501,NM_001083614 EARS2,EARS2 EXON Silent,Missense_G451V exm1226385 16 23540833 [A/G] NR_003501,NM_001083614 EARS2,EARS2 EXON Silent,Missense_R448C exm1226395 16 23544000 [T/C] NR_003501,NM_001083614 EARS2,EARS2 EXON Silent,Missense_E349K exm2224485 16 23544030 [A/C] NR_003501,NM_001083614 EARS2,EARS2 EXON Silent,Missense_V339F exm1226402 16 23546293 [T/C] NR_003501,NM_001083614 EARS2,EARS2 EXON Silent,Missense_V292I exm1226411 16 23546497 [T/C] NR_003501,NM_001083614 EARS2,EARS2 EXON Silent,Missense_G224S exm1226414 16 23546587 [T/C] NR_003501,NM_001083614 EARS2,EARS2 EXON Silent,Missense_V194M exm1226416 16 23546599 [A/G] NR_003501,NM_001083614 EARS2,EARS2 EXON Silent,Missense_R190C exm1226428 16 23555989 [A/G] NR_003501,NM_001083614 EARS2,EARS2 EXON Silent,Missense_P111S exm1226432 16 23563485 [T/C] NR_003501,NM_001083614 EARS2,EARS2 EXON Silent,Missense_M94V exm1226434 16 23563502 [T/G] NR_003501,NM_001083614 EARS2,EARS2 EXON Silent,Missense_A88E exm1226441 16 23563556 [A/C] NR_003501,NM_001083614 EARS2,EARS2 EXON Silent,Missense_S70I exm1226446 16 23568649 [T/C] NR_003501,NM_001083614 EARS2,EARS2 EXON Silent,Missense_R6G exm1226460 16 23569562 [C/G] NM_019116 UBFD1 EXON Missense_T106R exm1226490 16 23596735 [T/C] NM_005003 NDUFAB1 EXON Missense_N101D exm1226496 16 23598613 [A/G] NM_005003 NDUFAB1 EXON Missense_R66C exm1226504 16 23607572 [A/G] NM_005003 NDUFAB1 EXON Missense_P14S exm1226507 16 23614833 [A/G] NM_024675 PALB2 EXON Missense_H1170Y exm1226521 16 23619278 [T/C] NM_024675 PALB2 EXON Missense_R1086Q exm1226531 16 23632742 [G/C] NM_024675 PALB2 EXON Missense_E1018D exm-rs420259 16 23634026 [A/G] NM_024675 PALB2 Silent exm1226533 16 23634293 [T/C] NM_024675 PALB2 EXON Missense_G998E exm1226538 16 23634435 [A/G] NM_024675 PALB2 EXON Missense_S951P exm1226540 16 23635348 [A/C] NM_024675 PALB2 EXON Missense_L939W exm1226542 16 23635370 [T/C] NM_024675 PALB2 EXON Missense_V932M exm1226548 16 23637715 [A/G] NM_024675 PALB2 EXON Missense_P864S exm-rs249954 16 23640467 [A/G] NM_024675 PALB2 Silent exm1226571 16 23641340 [A/G] NM_024675 PALB2 EXON Missense_A712V exm1852106 16 23641448 [A/G] NM_024675 PALB2 EXON Missense_I676T exm1226576 16 23641461 [G/C] NM_024675 PALB2 EXON Missense_E672Q exm1226589 16 23646191 [T/C] NM_024675 PALB2 EXON Missense_Q559R exm1226595 16 23646257 [A/G] NM_024675 PALB2 EXON Missense_S537L exm1852112 16 23646375 [A/C] NM_024675 PALB2 EXON Missense_D498Y exm1226604 16 23646530 [A/T] NM_024675 PALB2 EXON Missense_D446V exm1226608 16 23646617 [T/G] NM_024675 PALB2 EXON Missense_S417Y exm1226616 16 23646857 [A/G] NM_024675 PALB2 EXON Missense_L337S exm1226618 16 23646867 [A/C] NM_024675 PALB2 EXON Missense_Y334D exm2224494 16 23646899 [T/G] NM_024675 PALB2 EXON Missense_A323E exm1226624 16 23646942 [T/C] NM_024675 PALB2 EXON Missense_I309V exm1226630 16 23647146 [T/C] NM_024675 PALB2 EXON Missense_N241D exm1226631 16 23647199 [A/G] NM_024675 PALB2 EXON Missense_I223T exm1226632 16 23647211 [T/C] NM_024675 PALB2 EXON Missense_D219G exm1226633 16 23647238 [A/G] NM_024675 PALB2 EXON Missense_P210L exm1226638 16 23647467 [T/C] NM_024675 PALB2 EXON Missense_D134N exm1226640 16 23647569 [A/G] NM_024675 PALB2 EXON Missense_L100F exm1226648 16 23649255 [T/C] NM_024675 PALB2 EXON Missense_K43E exm1226649 16 23649272 [T/C] NM_024675 PALB2 EXON Missense_R37H exm1226655 16 23649446 [T/C] NM_024675 PALB2 EXON Missense_K18R exm1226658 16 23652456 [A/G] NM_024675 PALB2 EXON Missense_P8L exm1226702 16 23690573 [A/G] NM_005030 PLK1 EXON Missense_S107N exm1226715 16 23693443 [T/C] NM_005030 PLK1 EXON Missense_L261F exm1226723 16 23695263 [A/G] NM_005030 PLK1 EXON Missense_N297D exm1226724 16 23695311 [T/C] NM_005030 PLK1 EXON Missense_R313C exm1226726 16 23695354 [T/C] NM_005030 PLK1 EXON Missense_I327T exm2276433 16 23695383 [A/C] NM_005030 PLK1 EXON Synonymous_R337R exm1226730 16 23698814 [A/G] NM_005030 PLK1 EXON Missense_R354H exm1226731 16 23698844 [A/G] NM_005030 PLK1 EXON Missense_R364Q exm2274829 16 23700654 [A/C] NM_005030 PLK1 EXON Missense_R456S exm1226747 16 23700676 [T/A] NM_005030 PLK1 EXON Missense_L463H exm1226751 16 23700924 [A/G] NM_005030 PLK1 EXON Missense_R512Q exm1226755 16 23700977 [A/G] NM_005030 PLK1 EXON Missense_V530M exm1226769 16 23702180 [G/C] NM_033266 ERN2 EXON Missense_R966T exm1226775 16 23702246 [C/G] NM_033266 ERN2 EXON Missense_A944G exm1226777 16 23702271 [A/G] NM_033266 ERN2 EXON Missense_R936W exm1226784 16 23702450 [G/C] NM_033266 ERN2 EXON Missense_K904N exm1226787 16 23702479 [A/G] NM_033266 ERN2 EXON Nonsense_R895X exm1226789 16 23702634 [A/G] NM_033266 ERN2 EXON Missense_P878L exm1226791 16 23702674 [T/C] NM_033266 ERN2 EXON Missense_A865T exm1226796 16 23702727 [T/C] NM_033266 ERN2 EXON Missense_E847G exm1226798 16 23702743 [T/C] NM_033266 ERN2 EXON Missense_V842I exm1226809 16 23703396 [T/C] NM_033266 ERN2 EXON Missense_R803Q exm1226816 16 23703564 [T/C] NM_033266 ERN2 EXON Missense_R778H exm1226821 16 23703619 [T/C] NM_033266 ERN2 EXON Missense_V760M exm2224506 16 23706108 [A/G] NM_033266 ERN2 EXON Missense_P729S exm1226827 16 23706199 [T/G] NM_033266 ERN2 EXON Missense_S698R exm1226830 16 23706236 [A/G] NM_033266 ERN2 EXON Missense_L686P exm1226838 16 23706602 [T/G] NM_033266 ERN2 EXON Missense_N621K exm1226846 16 23707215 [T/C] NM_033266 ERN2 EXON Missense_R585Q exm1226850 16 23707242 [T/C] NM_033266 ERN2 EXON Missense_R576H exm1226855 16 23711860 [T/C] NM_033266 ERN2 EXON Missense_A557T exm1226867 16 23712004 [T/G] NM_033266 ERN2 EXON Missense_K509Q exm1226869 16 23712402 [A/G] NM_033266 ERN2 EXON Missense_S461P exm1226870 16 23712419 [T/C] NM_033266 ERN2 EXON Missense_R455Q exm1226881 16 23713786 [A/G] NM_033266 ERN2 EXON Nonsense_R384X exm1226899 16 23716336 [T/C] NM_033266 ERN2 EXON Missense_R289H exm1226907 16 23717690 [A/G] NM_033266 ERN2 EXON Missense_R232C exm2224508 16 23717693 [A/G] NM_033266 ERN2 EXON Missense_R231C exm1226909 16 23717710 [T/C] NM_033266 ERN2 EXON Missense_R225H exm1226915 16 23718180 [A/G] NM_033266 ERN2 EXON Missense_R176W exm1226928 16 23722258 [T/C] NM_033266 ERN2 EXON Missense_D107N exm-rs4968031 16 23765774 [A/G] exm1226964 16 23767202 [A/G] NM_022097 CHP2 EXON Missense_V59M exm1226972 16 23767392 [A/G] NM_022097 CHP2 EXON Missense_R77Q exm1852296 16 23767434 [A/G] NM_022097 CHP2 EXON Missense_R91H exm1226981 16 23768529 [A/G] NM_022097 CHP2 EXON Missense_R141H exm1226990 16 23768869 [A/G] NM_022097 CHP2 EXON Missense_V186I exm1226991 16 23768875 [T/C] NM_022097 CHP2 EXON Nonsense_Q188X exm2264595 16 23946385 [A/C] NM_002738,NM_212535 PRKCB,PRKCB Silent,Silent exm1227017 16 24046832 [G/C] NM_002738,NM_212535 PRKCB,PRKCB EXON Missense_Q165E,Missense_Q165E exm2267933 16 24088428 [A/G] NM_002738,NM_212535 PRKCB,PRKCB Silent,Silent exm1227025 16 24124353 [A/G] NM_002738,NM_212535 PRKCB,PRKCB EXON Missense_G294E,Missense_G294E exm1227026 16 24124365 [A/G] NM_002738,NM_212535 PRKCB,PRKCB EXON Missense_N298S,Missense_N298S exm1227035 16 24135199 [T/C] NM_002738,NM_212535 PRKCB,PRKCB EXON Missense_T321M,Missense_T321M exm1227060 16 24202451 [A/C] NM_002738,NM_212535 PRKCB,PRKCB EXON Missense_P588H,Missense_P588H exm1227079 16 24231412 [T/C] NM_002738,NM_212535 PRKCB,PRKCB EXON Silent,Missense_P665L exm-rs11643520 16 24531718 [T/C] exm1227112 16 24557546 [A/G] NM_018703,NM_006910,NM_032626 RBBP6,RBBP6,RBBP6 EXON Missense_I77V,Missense_I77V,Missense_I77V exm2252514 16 24567751 [A/G] NM_018703,NM_006910 RBBP6,RBBP6 EXON Synonymous_A219A,Synonymous_A219A exm1227142 16 24573217 [T/C] NM_018703,NM_006910 RBBP6,RBBP6 EXON Missense_P342S,Missense_P342S exm1227146 16 24573280 [T/C] NM_018703,NM_006910 RBBP6,RBBP6 EXON Missense_S363P,Missense_S363P exm1227149 16 24573325 [A/G] NM_018703,NM_006910 RBBP6,RBBP6 EXON Missense_T378A,Missense_T378A exm1227150 16 24573337 [T/C] NM_018703,NM_006910 RBBP6,RBBP6 EXON Missense_P382S,Missense_P382S exm1227164 16 24574597 [A/C] NM_018703,NM_006910 RBBP6,RBBP6 EXON Missense_T456N,Missense_T456N exm1227171 16 24574960 [A/G] NM_018703,NM_006910 RBBP6,RBBP6 EXON Missense_G499S,Missense_G499S exm1227185 16 24578657 [A/G] NM_018703,NM_006910 RBBP6,RBBP6 EXON Missense_A595T,Missense_A595T exm1227202 16 24580298 [T/C] NM_018703,NM_006910 RBBP6,RBBP6 EXON Missense_Y729H,Missense_Y763H exm1227212 16 24580646 [T/C] NM_018703,NM_006910 RBBP6,RBBP6 EXON Missense_R845C,Missense_R879C exm1227213 16 24580647 [A/G] NM_018703,NM_006910 RBBP6,RBBP6 EXON Missense_R845H,Missense_R879H exm1227225 16 24580819 [A/C] NM_018703,NM_006910 RBBP6,RBBP6 EXON Missense_H902Q,Missense_H936Q exm1227226 16 24580821 [A/G] NM_018703,NM_006910 RBBP6,RBBP6 EXON Missense_R903K,Missense_R937K exm1227228 16 24580830 [A/G] NM_018703,NM_006910 RBBP6,RBBP6 EXON Missense_R906K,Missense_R940K exm1852421 16 24581031 [A/G] NM_018703,NM_006910 RBBP6,RBBP6 EXON Missense_R973K,Missense_R1007K exm1852423 16 24581416 [G/C] NM_018703,NM_006910 RBBP6,RBBP6 EXON Missense_E1101D,Missense_E1135D exm1227247 16 24581556 [A/G] NM_018703,NM_006910 RBBP6,RBBP6 EXON Missense_R1148H,Missense_R1182H exm1227248 16 24581619 [A/G] NM_018703,NM_006910 RBBP6,RBBP6 EXON Missense_S1169N,Missense_S1203N exm1227263 16 24582225 [T/C] NM_018703,NM_006910 RBBP6,RBBP6 EXON Missense_R1246W,Missense_R1280W exm1227285 16 24582580 [T/G] NM_018703,NM_006910 RBBP6,RBBP6 EXON Missense_S1364I,Missense_S1398I exm1227291 16 24582709 [A/G] NM_018703,NM_006910 RBBP6,RBBP6 EXON Missense_K1407R,Missense_K1441R exm1227292 16 24582742 [T/C] NM_018703,NM_006910 RBBP6,RBBP6 EXON Missense_T1418M,Missense_T1452M exm1227294 16 24582766 [A/G] NM_018703,NM_006910 RBBP6,RBBP6 EXON Missense_R1426H,Missense_R1460H exm1227295 16 24582810 [A/C] NM_018703,NM_006910 RBBP6,RBBP6 EXON Missense_T1441P,Missense_T1475P exm1227296 16 24582817 [A/G] NM_018703,NM_006910 RBBP6,RBBP6 EXON Missense_Y1443C,Missense_Y1477C exm1227297 16 24582847 [A/G] NM_018703,NM_006910 RBBP6,RBBP6 EXON Missense_R1453H,Missense_R1487H exm1852436 16 24582877 [A/G] NM_018703,NM_006910 RBBP6,RBBP6 EXON Missense_R1463Q,Missense_R1497Q exm1227302 16 24582934 [A/G] NM_018703,NM_006910 RBBP6,RBBP6 EXON Missense_R1482K,Missense_R1516K exm2252515 16 24583058 [A/G] NM_018703,NM_006910 RBBP6,RBBP6 EXON Synonymous_E1523E,Synonymous_E1557E exm1227313 16 24583092 [T/C] NM_018703,NM_006910 RBBP6,RBBP6 EXON Missense_R1535C,Missense_R1569C exm1227318 16 24583125 [A/G] NM_018703,NM_006910 RBBP6,RBBP6 EXON Missense_K1546E,Missense_K1580E exm2252516 16 24788549 [A/G] NM_014494 TNRC6A EXON Synonymous_Q153Q exm1227411 16 24788620 [T/C] NM_014494 TNRC6A EXON Missense_A177V exm1227413 16 24788644 [A/G] NM_014494 TNRC6A EXON Missense_N185S exm1227414 16 24788645 [A/T] NM_014494 TNRC6A EXON Missense_N185K exm1227423 16 24800633 [A/G] NM_014494 TNRC6A EXON Missense_N224D exm1227431 16 24800822 [A/G] NM_014494 TNRC6A EXON Missense_T287A exm1227432 16 24800831 [A/G] NM_014494 TNRC6A EXON Missense_G290S exm1227434 16 24800897 [T/C] NM_014494 TNRC6A EXON Missense_P312S exm1227438 16 24800982 [A/G] NM_014494 TNRC6A EXON Missense_N340S exm1227442 16 24801098 [T/G] NM_014494 TNRC6A EXON Missense_A379S exm1227454 16 24801468 [G/C] NM_014494 TNRC6A EXON Missense_T502S exm1227459 16 24801638 [A/G] NM_014494 TNRC6A EXON Missense_M559V exm1227467 16 24801737 [A/G] NM_014494 TNRC6A EXON Missense_A592T exm1227469 16 24801795 [A/G] NM_014494 TNRC6A EXON Missense_N611S exm1227470 16 24801806 [A/G] NM_014494 TNRC6A EXON Missense_V615I exm1227471 16 24801809 [A/G] NM_014494 TNRC6A EXON Missense_E616K exm1227487 16 24802206 [A/T] NM_014494 TNRC6A EXON Missense_N748I exm1227492 16 24802325 [T/C] NM_014494 TNRC6A EXON Missense_P788S exm1227494 16 24802347 [A/C] NM_014494 TNRC6A EXON Missense_S795Y exm1227496 16 24802358 [A/G] NM_014494 TNRC6A EXON Missense_N799D exm2276435 16 24802367 [C/G] NM_014494 TNRC6A EXON Missense_G802R exm1852463 16 24802413 [A/G] NM_014494 TNRC6A EXON Missense_N817S exm1227499 16 24802427 [T/C] NM_014494 TNRC6A EXON Missense_C822R exm1227504 16 24802572 [A/G] NM_014494 TNRC6A EXON Missense_N870S exm1227512 16 24802874 [G/C] NM_014494 TNRC6A EXON Missense_L971V exm1227516 16 24803021 [A/C] NM_014494 TNRC6A EXON Missense_N1020H exm1227517 16 24803045 [A/G] NM_014494 TNRC6A EXON Missense_N1028D exm1227523 16 24804871 [A/G] NM_014494 TNRC6A EXON Missense_I1085V exm1227528 16 24804954 [A/T] NM_014494 TNRC6A EXON Missense_Q1112H exm1227541 16 24808891 [A/G] NM_014494 TNRC6A EXON Synonymous_S1214S exm1227546 16 24815534 [A/G] NM_014494 TNRC6A EXON Missense_H1244R exm1227547 16 24815551 [A/G] NM_014494 TNRC6A EXON Missense_D1250N exm1227553 16 24815624 [A/G] NM_014494 TNRC6A EXON Missense_N1274S exm2224521 16 24816038 [A/G] NM_014494 TNRC6A EXON Missense_A1284T exm1227557 16 24816350 [A/G] NM_014494 TNRC6A EXON Missense_M1334V exm1227559 16 24816437 [T/C] NM_014494 TNRC6A EXON Missense_R1363C exm1227567 16 24817552 [T/C] NM_014494 TNRC6A EXON Missense_A1426V exm1227589 16 24826599 [A/G] NM_014494 TNRC6A EXON Missense_G1602S exm1227594 16 24828224 [A/G] NM_014494 TNRC6A EXON Missense_N1640S exm1227595 16 24828232 [A/G] NM_014494 TNRC6A EXON Missense_I1643V exm1227596 16 24829938 [T/C] NM_014494 TNRC6A EXON Missense_T1666M exm1227605 16 24831511 [A/C] NM_014494 TNRC6A EXON Missense_T1711N exm2276436 16 24831666 [A/G] NM_014494 TNRC6A EXON Missense_A1763T exm1227626 16 24834950 [A/G] NM_014494 TNRC6A EXON Missense_G1904E exm1227630 16 24834982 [A/G] NM_014494 TNRC6A EXON Missense_G1915S exm2274830 16 24835018 [A/G] NM_014494 TNRC6A EXON Missense_S1927G exm1227636 16 24835081 [A/G] NM_014494 TNRC6A EXON Missense_A1948T exm1227651 16 24873990 [A/G] NM_001258413,NM_001258414,NM_001258412,NM_001258411,NM_052944 SLC5A11,SLC5A11,SLC5A11,SLC5A11,SLC5A11 EXON Nonsense_W4X,Nonsense_W4X,Nonsense_W68X,Nonsense_W68X,Nonsense_W68X exm1227666 16 24888646 [T/C] NM_001258413,NM_001258414,NM_001258412,NM_001258411,NM_052944 SLC5A11,SLC5A11,SLC5A11,SLC5A11,SLC5A11 EXON Missense_V118A,Missense_V118A,Missense_V112A,Missense_V147A,Missense_V182A exm1227682 16 24902299 [C/G] NM_001258413,NM_001258414,NM_001258412,NM_001258411,NM_052944 SLC5A11,SLC5A11,SLC5A11,SLC5A11,SLC5A11 EXON Missense_F194L,Silent,Missense_F188L,Missense_F223L,Missense_F258L exm1227683 16 24902316 [T/C] NM_001258413,NM_001258414,NM_001258412,NM_001258411,NM_052944 SLC5A11,SLC5A11,SLC5A11,SLC5A11,SLC5A11 EXON Missense_P200L,Silent,Missense_P194L,Missense_P229L,Missense_P264L exm1227684 16 24902334 [T/C] NM_001258413,NM_001258414,NM_001258412,NM_001258411,NM_052944 SLC5A11,SLC5A11,SLC5A11,SLC5A11,SLC5A11 EXON Missense_P206L,Silent,Missense_P200L,Missense_P235L,Missense_P270L exm1227688 16 24909295 [A/G] NM_001258413,NM_001258414,NM_001258412,NM_001258411,NM_052944 SLC5A11,SLC5A11,SLC5A11,SLC5A11,SLC5A11 EXON Missense_V227M,Missense_S158N,Missense_V221M,Missense_V256M,Missense_V291M exm1227689 16 24909300 [T/G] NM_001258413,NM_001258414,NM_001258412,NM_001258411,NM_052944 SLC5A11,SLC5A11,SLC5A11,SLC5A11,SLC5A11 EXON Missense_I228M,Missense_C160G,Missense_I222M,Missense_I257M,Missense_I292M exm1227694 16 24909377 [T/C] NM_001258413,NM_001258414,NM_001258412,NM_001258411,NM_052944 SLC5A11,SLC5A11,SLC5A11,SLC5A11,SLC5A11 EXON Missense_L254P,Synonymous_A185A,Missense_L248P,Missense_L283P,Missense_L318P exm1227708 16 24918456 [T/C] NM_001258413,NM_001258414,NM_001258412,NM_001258411,NM_052944 SLC5A11,SLC5A11,SLC5A11,SLC5A11,SLC5A11 EXON Missense_R345W,Missense_R253W,Missense_R339W,Missense_R374W,Missense_R409W exm1227720 16 24920259 [A/G] NM_001258413,NM_001258414,NM_001258412,NM_001258411,NM_052944 SLC5A11,SLC5A11,SLC5A11,SLC5A11,SLC5A11 EXON Missense_D434N,Missense_D342N,Missense_D428N,Missense_D463N,Missense_D498N exm1227726 16 24920301 [T/C] NM_001258413,NM_001258414,NM_001258412,NM_001258411,NM_052944 SLC5A11,SLC5A11,SLC5A11,SLC5A11,SLC5A11 EXON Missense_R448C,Missense_R356C,Missense_R442C,Missense_R477C,Missense_R512C exm1227731 16 24920356 [T/C] NM_001258413,NM_001258414,NM_001258412,NM_001258411,NM_052944 SLC5A11,SLC5A11,SLC5A11,SLC5A11,SLC5A11 EXON Missense_T466M,Missense_T374M,Missense_T460M,Missense_T495M,Missense_T530M exm1227735 16 24920382 [A/G] NM_001258413,NM_001258414,NM_001258412,NM_001258411,NM_052944 SLC5A11,SLC5A11,SLC5A11,SLC5A11,SLC5A11 EXON Missense_V475M,Missense_V383M,Missense_V469M,Missense_V504M,Missense_V539M exm1227744 16 24921729 [T/C] NM_001258413,NM_001258414,NM_001258412,NM_001258411,NM_052944 SLC5A11,SLC5A11,SLC5A11,SLC5A11,SLC5A11 EXON Missense_P521S,Missense_P429S,Missense_P515S,Missense_P550S,Missense_P585S exm1227747 16 24921762 [A/G] NM_001258413,NM_001258414,NM_001258412,NM_001258411,NM_052944 SLC5A11,SLC5A11,SLC5A11,SLC5A11,SLC5A11 EXON Missense_E532K,Missense_E440K,Missense_E526K,Missense_E561K,Missense_E596K exm1227748 16 24921781 [T/C] NM_001258413,NM_001258414,NM_001258412,NM_001258411,NM_052944 SLC5A11,SLC5A11,SLC5A11,SLC5A11,SLC5A11 EXON Missense_T538M,Missense_T446M,Missense_T532M,Missense_T567M,Missense_T602M exm1852585 16 24922823 [C/G] NM_001258413,NM_001258414,NM_001258412,NM_001258411,NM_052944 SLC5A11,SLC5A11,SLC5A11,SLC5A11,SLC5A11 EXON Missense_C602S,Missense_C510S,Missense_C596S,Missense_C631S,Missense_C666S exm1227761 16 24931497 [T/C] NM_018054,NM_001006634 ARHGAP17,ARHGAP17 EXON Missense_R789H,Missense_R867H exm2224528 16 24942275 [T/C] NM_018054,NM_001006634 ARHGAP17,ARHGAP17 EXON Missense_G704D,Missense_G782D exm2252517 16 24942691 [A/C] NM_018054,NM_001006634 ARHGAP17,ARHGAP17 EXON Synonymous_P565P,Synonymous_P643P exm2272430 16 24944146 [T/C] NM_018054,NM_001006634 ARHGAP17,ARHGAP17 Silent,Silent exm1227803 16 24946794 [C/G] NM_018054,NM_001006634 ARHGAP17,ARHGAP17 EXON Missense_R553G,Missense_R631G exm1227811 16 24946904 [T/C] NM_018054,NM_001006634 ARHGAP17,ARHGAP17 EXON Missense_N516S,Missense_N594S exm1227825 16 24950803 [T/C] NM_018054,NM_001006634 ARHGAP17,ARHGAP17 EXON Silent,Missense_V536M exm1227826 16 24950806 [T/C] NM_018054,NM_001006634 ARHGAP17,ARHGAP17 EXON Silent,Missense_V535M exm1227832 16 24950845 [T/C] NM_018054,NM_001006634 ARHGAP17,ARHGAP17 EXON Silent,Missense_A522T exm1227835 16 24950880 [T/C] NM_018054,NM_001006634 ARHGAP17,ARHGAP17 EXON Silent,Missense_R510Q exm1852629 16 24960747 [A/G] NM_018054,NM_001006634 ARHGAP17,ARHGAP17 EXON Missense_P369S,Missense_P369S exm1227853 16 24960803 [A/C] NM_018054,NM_001006634 ARHGAP17,ARHGAP17 EXON Missense_V350G,Missense_V350G exm1227860 16 24965935 [T/C] NM_018054,NM_001006634 ARHGAP17,ARHGAP17 EXON Missense_M281V,Missense_M281V exm1227876 16 24980050 [A/G] NM_018054,NM_001006634 ARHGAP17,ARHGAP17 EXON Missense_L106F,Missense_L106F exm2264596 16 25106206 [A/C] exm1227933 16 25180449 [T/G] NM_016309,NM_001032391 LCMT1,LCMT1 EXON Missense_R236L,Missense_R181L exm1852749 16 25182077 [T/G] NM_016309,NM_001032391 LCMT1,LCMT1 EXON Missense_V279F,Missense_V224F exm1227949 16 25228368 [T/C] NM_001169 AQP8 EXON Missense_M1T exm1227960 16 25228586 [A/G] NM_001169 AQP8 EXON Missense_R27Q exm1227961 16 25228600 [A/G] NM_001169 AQP8 EXON Missense_E32K exm1227962 16 25228604 [A/G] NM_001169 AQP8 EXON Missense_R33Q exm1227967 16 25228688 [T/C] NM_001169 AQP8 EXON Missense_T61M exm1227985 16 25232875 [A/G] NM_001169 AQP8 EXON Missense_G120R exm1227991 16 25235743 [A/G] NM_001169 AQP8 EXON Missense_E150K exm1227996 16 25235866 [A/G] NM_001169 AQP8 EXON Missense_G191S exm1228005 16 25239805 [C/G] NM_001169 AQP8 EXON Missense_A260P exm1228006 16 25239809 [A/G] NM_001169 AQP8 EXON Missense_R261Q exm1228010 16 25251202 [A/G] NM_001012981 ZKSCAN2 EXON Missense_P947S exm1228011 16 25251216 [A/G] NM_001012981 ZKSCAN2 EXON Missense_P942L exm1852797 16 25251378 [T/C] NM_001012981 ZKSCAN2 EXON Missense_K888R exm1228021 16 25251408 [T/C] NM_001012981 ZKSCAN2 EXON Missense_R878Q exm1228023 16 25251415 [T/C] NM_001012981 ZKSCAN2 EXON Missense_A876T exm1228025 16 25251430 [T/C] NM_001012981 ZKSCAN2 EXON Missense_S871G exm1228026 16 25251465 [T/C] NM_001012981 ZKSCAN2 EXON Missense_Y859C exm1228027 16 25251478 [T/C] NM_001012981 ZKSCAN2 EXON Missense_G855S exm1228034 16 25251708 [T/C] NM_001012981 ZKSCAN2 EXON Missense_G778D exm1228048 16 25251930 [T/C] NM_001012981 ZKSCAN2 EXON Missense_R704H exm1228050 16 25251945 [T/A] NM_001012981 ZKSCAN2 EXON Missense_D699V exm1228051 16 25251946 [T/C] NM_001012981 ZKSCAN2 EXON Missense_D699N exm1228052 16 25251969 [T/G] NM_001012981 ZKSCAN2 EXON Missense_K691T exm1852802 16 25251978 [T/C] NM_001012981 ZKSCAN2 EXON Missense_E688G exm1228053 16 25252006 [T/C] NM_001012981 ZKSCAN2 EXON Missense_D679N exm1228061 16 25255169 [T/C] NM_001012981 ZKSCAN2 EXON Missense_E640K exm1228070 16 25255366 [A/G] NM_001012981 ZKSCAN2 EXON Missense_A574V exm1228079 16 25255503 [C/G] NM_001012981 ZKSCAN2 EXON Missense_S528R exm1852812 16 25258041 [A/C] NM_001012981 ZKSCAN2 EXON Missense_F492L exm1228089 16 25258075 [T/C] NM_001012981 ZKSCAN2 EXON Missense_R481H exm1228090 16 25258085 [T/C] NM_001012981 ZKSCAN2 EXON Missense_E478K exm1228102 16 25258404 [G/C] NM_001012981 ZKSCAN2 EXON Missense_S371R exm1228103 16 25258450 [T/C] NM_001012981 ZKSCAN2 EXON Missense_K356R exm1852815 16 25258612 [T/C] NM_001012981 ZKSCAN2 EXON Missense_R302Q exm1228109 16 25258633 [A/G] NM_001012981 ZKSCAN2 EXON Missense_S295F exm1228111 16 25258652 [A/T] NM_001012981 ZKSCAN2 EXON Missense_T289S exm1228113 16 25258655 [A/G] NM_001012981 ZKSCAN2 EXON Missense_W288R exm1228115 16 25263242 [T/C] NM_001012981 ZKSCAN2 EXON Missense_V265M exm1228116 16 25263272 [A/G] NM_001012981 ZKSCAN2 EXON Missense_R255W exm1228117 16 25263278 [A/G] NM_001012981 ZKSCAN2 EXON Missense_L253F exm1852820 16 25263307 [G/C] NM_001012981 ZKSCAN2 EXON Missense_S243T exm1228120 16 25266547 [A/C] NM_001012981 ZKSCAN2 EXON Missense_R189L exm1228127 16 25266658 [A/G] NM_001012981 ZKSCAN2 EXON Missense_V152A exm1228158 16 25704310 [A/G] NM_006040 HS3ST4 EXON Missense_D191G exm1228162 16 25704445 [A/G] NM_006040 HS3ST4 EXON Missense_N236S exm2272356 16 25753251 [T/C] NM_006040 HS3ST4 Silent exm-rs4303490 16 25944700 [A/G] NM_006040 HS3ST4 Silent exm-rs4073229 16 25995418 [T/C] NM_006040 HS3ST4 Silent exm2267934 16 26054257 [A/G] NM_006040 HS3ST4 Silent exm2252520 16 26091436 [A/C] NM_006040 HS3ST4 Silent exm1228174 16 26147334 [A/G] NM_006040 HS3ST4 EXON Missense_R379H exm1228179 16 26147454 [T/G] NM_006040 HS3ST4 EXON Missense_R419L exm-rs7350820 16 26474984 [A/G] exm2267882 16 26519394 [A/G] exm2272431 16 26886022 [T/C] exm-rs2203512 16 27056455 [A/G] exm1228194 16 27078327 [T/C] NM_001145545 C16orf82 EXON Missense_P4L exm1228200 16 27078433 [T/G] NM_001145545 C16orf82 EXON Missense_Q39H exm2252527 16 27078517 [T/C] NM_001145545 C16orf82 EXON Synonymous_S67S exm1228205 16 27078535 [A/C] NM_001145545 C16orf82 EXON Missense_S73R exm1228206 16 27078545 [T/C] NM_001145545 C16orf82 EXON Missense_P77S exm1228208 16 27078560 [A/G] NM_001145545 C16orf82 EXON Missense_G82S exm1228211 16 27078611 [A/G] NM_001145545 C16orf82 EXON Missense_D99N exm1228214 16 27078636 [A/G] NM_001145545 C16orf82 EXON Missense_R107Q exm1228216 16 27078672 [T/C] NM_001145545 C16orf82 EXON Missense_A119V exm2252528 16 27113695 [T/C] exm1228226 16 27221524 [T/C] NM_024773,NM_001145348 KDM8,KDM8 EXON Missense_P27L,Missense_P65L exm1228230 16 27221616 [A/G] NM_024773,NM_001145348 KDM8,KDM8 EXON Missense_E58K,Missense_E96K exm1228239 16 27221733 [A/G] NM_024773,NM_001145348 KDM8,KDM8 EXON Missense_I97V,Missense_I135V exm1228243 16 27221796 [A/G] NM_024773,NM_001145348 KDM8,KDM8 EXON Missense_A118T,Missense_A156T exm1228245 16 27221812 [A/G] NM_024773,NM_001145348 KDM8,KDM8 EXON Missense_C123Y,Missense_C161Y exm1228248 16 27221895 [A/G] NM_024773,NM_001145348 KDM8,KDM8 EXON Missense_G151R,Missense_G189R exm1228250 16 27221911 [A/G] NM_024773,NM_001145348 KDM8,KDM8 EXON Missense_R156H,Missense_R194H exm1228252 16 27224916 [T/C] NM_024773,NM_001145348 KDM8,KDM8 EXON Missense_A170V,Missense_A208V exm1228259 16 27226321 [A/G] NM_024773,NM_001145348 KDM8,KDM8 EXON Missense_V264M,Missense_V302M exm1228263 16 27227298 [T/G] NM_024773,NM_001145348 KDM8,KDM8 EXON Missense_Q277H,Missense_Q315H exm1228269 16 27230333 [A/G] NM_024773,NM_001145348 KDM8,KDM8 EXON Missense_D299N,Missense_D337N exm1228285 16 27231893 [A/G] NM_024773,NM_001145348 KDM8,KDM8 EXON Missense_V365M,Missense_V403M exm1228294 16 27236495 [A/G] NM_145080 NSMCE1 EXON Missense_R262W exm1228319 16 27245549 [A/G] NM_145080 NSMCE1 EXON Missense_T99M exm1228325 16 27246571 [A/C] NM_145080 NSMCE1 EXON Missense_S62R exm1228328 16 27246617 [T/C] NM_145080 NSMCE1 EXON Missense_N47S exm1228330 16 27268756 [A/G] NM_145080 NSMCE1 EXON Missense_R46C exm1228331 16 27268779 [G/C] NM_145080 NSMCE1 EXON Missense_T38R exm1228344 16 27353529 [A/G] NM_001257407,NM_001257406,NM_001257997,NM_000418 IL4R,IL4R,IL4R,IL4R EXON Missense_N38S,Missense_N53S,Silent,Missense_N53S exm1228348 16 27356203 [A/G] NM_001257407,NM_001257406,NM_001257997,NM_000418 IL4R,IL4R,IL4R,IL4R EXON Missense_I60V,Missense_I75V,Silent,Missense_I75V exm1228350 16 27356224 [A/G] NM_001257407,NM_001257406,NM_001257997,NM_000418 IL4R,IL4R,IL4R,IL4R EXON Missense_A67T,Missense_A82T,Silent,Missense_A82T exm1228362 16 27356323 [T/A] NM_001257407,NM_001257406,NM_001257997,NM_000418 IL4R,IL4R,IL4R,IL4R EXON Missense_F100I,Missense_F115I,Silent,Missense_F115I exm1228363 16 27356335 [A/G] NM_001257407,NM_001257406,NM_001257997,NM_000418 IL4R,IL4R,IL4R,IL4R EXON Missense_E104K,Missense_E119K,Silent,Missense_E119K exm1228369 16 27357863 [T/C] NM_001257407,NM_001257406,NM_001257997,NM_000418 IL4R,IL4R,IL4R,IL4R EXON Missense_P131L,Missense_P146L,Silent,Missense_P146L exm1228371 16 27357899 [T/C] NM_001257407,NM_001257406,NM_001257997,NM_000418 IL4R,IL4R,IL4R,IL4R EXON Missense_T143I,Missense_T158I,Silent,Missense_T158I exm1228374 16 27357932 [T/C] NM_001257407,NM_001257406,NM_001257997,NM_000418 IL4R,IL4R,IL4R,IL4R EXON Missense_P154L,Missense_P169L,Missense_R11W,Missense_P169L exm2267883 16 27359844 [A/G] NM_001257407,NM_001257406,NM_001257997,NM_000418 IL4R,IL4R,IL4R,IL4R Silent,Silent,Silent,Silent exm1228380 16 27363901 [A/G] NM_001257407,NM_001257406,NM_001257997,NM_000418 IL4R,IL4R,IL4R,IL4R EXON Missense_R170H,Missense_R185H,Missense_R25H,Missense_R185H exm1853125 16 27363946 [A/G] NM_001257407,NM_001257406,NM_001257997,NM_000418 IL4R,IL4R,IL4R,IL4R EXON Missense_R185Q,Missense_R200Q,Missense_R40Q,Missense_R200Q exm1228393 16 27370278 [A/G] NM_001257407,NM_001257406,NM_001257997,NM_000418 IL4R,IL4R,IL4R,IL4R EXON Missense_R256H,Missense_R271H,Missense_R111H,Missense_R271H exm1228406 16 27373641 [T/A] NM_001257407,NM_001257406,NM_001257997,NM_000418 IL4R,IL4R,IL4R,IL4R EXON Missense_D308V,Missense_D323V,Missense_D163V,Missense_D323V exm1228413 16 27373773 [A/C] NM_001257407,NM_001257406,NM_001257997,NM_000418 IL4R,IL4R,IL4R,IL4R EXON Missense_A352D,Missense_A367D,Missense_A207D,Missense_A367D exm1228415 16 27373817 [A/G] NM_001257407,NM_001257406,NM_001257997,NM_000418 IL4R,IL4R,IL4R,IL4R EXON Missense_G367R,Missense_G382R,Missense_G222R,Missense_G382R exm1228416 16 27373833 [T/C] NM_001257407,NM_001257406,NM_001257997,NM_000418 IL4R,IL4R,IL4R,IL4R EXON Missense_S372L,Missense_S387L,Missense_S227L,Missense_S387L exm1228417 16 27373872 [A/C] NM_001257407,NM_001257406,NM_001257997,NM_000418 IL4R,IL4R,IL4R,IL4R EXON Missense_E385A,Missense_E400A,Missense_E240A,Missense_E400A exm1228435 16 27374147 [A/G] NM_001257407,NM_001257406,NM_001257997,NM_000418 IL4R,IL4R,IL4R,IL4R EXON Missense_A477T,Missense_A492T,Missense_A332T,Missense_A492T exm1228436 16 27374148 [T/C] NM_001257407,NM_001257406,NM_001257997,NM_000418 IL4R,IL4R,IL4R,IL4R EXON Missense_A477V,Missense_A492V,Missense_A332V,Missense_A492V exm1228437 16 27374165 [T/C] NM_001257407,NM_001257406,NM_001257997,NM_000418 IL4R,IL4R,IL4R,IL4R EXON Missense_R483C,Missense_R498C,Missense_R338C,Missense_R498C exm1228438 16 27374180 [T/C] NM_001257407,NM_001257406,NM_001257997,NM_000418 IL4R,IL4R,IL4R,IL4R EXON Missense_S488P,Missense_S503P,Missense_S343P,Missense_S503P exm1228443 16 27374336 [T/C] NM_001257407,NM_001257406,NM_001257997,NM_000418 IL4R,IL4R,IL4R,IL4R EXON Missense_R540C,Missense_R555C,Missense_R395C,Missense_R555C exm1228444 16 27374340 [A/G] NM_001257407,NM_001257406,NM_001257997,NM_000418 IL4R,IL4R,IL4R,IL4R EXON Missense_R541Q,Missense_R556Q,Missense_R396Q,Missense_R556Q exm1228450 16 27374408 [A/G] NM_001257407,NM_001257406,NM_001257997,NM_000418 IL4R,IL4R,IL4R,IL4R EXON Missense_V564I,Missense_V579I,Missense_V419I,Missense_V579I exm1228456 16 27374447 [T/G] NM_001257407,NM_001257406,NM_001257997,NM_000418 IL4R,IL4R,IL4R,IL4R EXON Missense_V577L,Missense_V592L,Missense_V432L,Missense_V592L exm1228457 16 27374513 [C/G] NM_001257407,NM_001257406,NM_001257997,NM_000418 IL4R,IL4R,IL4R,IL4R EXON Missense_A599P,Missense_A614P,Missense_A454P,Missense_A614P exm1228463 16 27374696 [T/C] NM_001257407,NM_001257406,NM_001257997,NM_000418 IL4R,IL4R,IL4R,IL4R EXON Missense_P660S,Missense_P675S,Missense_P515S,Missense_P675S exm1228471 16 27374927 [T/G] NM_001257407,NM_001257406,NM_001257997,NM_000418 IL4R,IL4R,IL4R,IL4R EXON Missense_S737A,Missense_S752A,Missense_S592A,Missense_S752A exm1228479 16 27375029 [T/C] NM_001257407,NM_001257406,NM_001257997,NM_000418 IL4R,IL4R,IL4R,IL4R EXON Missense_S771P,Missense_S786P,Missense_S626P,Missense_S786P exm1228484 16 27375116 [A/G] NM_001257407,NM_001257406,NM_001257997,NM_000418 IL4R,IL4R,IL4R,IL4R EXON Missense_V800I,Missense_V815I,Missense_V655I,Missense_V815I exm-rs8057551 16 27434927 [A/G] NM_181078,NM_181079 IL21R,IL21R Silent,Silent exm1228493 16 27445682 [A/G] NM_181078,NM_181079,NM_021798 IL21R,IL21R,IL21R EXON Missense_D22N,Missense_D44N,Missense_D22N exm1228499 16 27445755 [T/C] NM_181078,NM_181079,NM_021798 IL21R,IL21R,IL21R EXON Missense_T46M,Missense_T68M,Missense_T46M exm1228512 16 27454345 [T/C] NM_181078,NM_181079,NM_021798 IL21R,IL21R,IL21R EXON Missense_R139C,Missense_R161C,Missense_R139C exm1228515 16 27454412 [C/G] NM_181078,NM_181079,NM_021798 IL21R,IL21R,IL21R EXON Missense_R161T,Missense_R183T,Missense_R161T exm1228522 16 27455926 [T/C] NM_181078,NM_181079,NM_021798 IL21R,IL21R,IL21R EXON Missense_R191C,Missense_R213C,Missense_R191C exm1228526 16 27455960 [T/C] NM_181078,NM_181079,NM_021798 IL21R,IL21R,IL21R EXON Missense_A202V,Missense_A224V,Missense_A202V exm1228533 16 27457366 [A/G] NM_181078,NM_181079,NM_021798 IL21R,IL21R,IL21R EXON Missense_R275Q,Missense_R297Q,Missense_R275Q exm1228536 16 27459941 [G/C] NM_181078,NM_181079,NM_021798,NR_037158 IL21R,IL21R,IL21R,IL21R-AS1 EXON Missense_S318R,Missense_S340R,Missense_S318R,Silent exm1228543 16 27460020 [A/G] NM_181078,NM_181079,NM_021798,NR_037158 IL21R,IL21R,IL21R,IL21R-AS1 EXON Missense_G345S,Missense_G367S,Missense_G345S,Silent exm1228551 16 27460420 [T/C] NM_181078,NM_181079,NM_021798,NR_037158 IL21R,IL21R,IL21R,IL21R-AS1 EXON Missense_A478V,Missense_A500V,Missense_A478V,Silent exm1228554 16 27460437 [A/G] NM_181078,NM_181079,NM_021798,NR_037158 IL21R,IL21R,IL21R,IL21R-AS1 EXON Missense_G484S,Missense_G506S,Missense_G484S,Silent exm1228574 16 27472706 [T/G] NM_001520 GTF3C1 EXON Missense_H2099N exm1228580 16 27472772 [T/C] NM_001520 GTF3C1 EXON Missense_E2077K exm1228581 16 27472779 [C/G] NM_001520 GTF3C1 EXON Missense_S2074R exm1228582 16 27472786 [A/G] NM_001520 GTF3C1 EXON Missense_P2072L exm1228585 16 27472825 [A/G] NM_001520 GTF3C1 EXON Missense_S2059L exm1228587 16 27472859 [A/G] NM_001520 GTF3C1 EXON Missense_R2048W exm1228589 16 27473632 [T/C] NM_001520 GTF3C1 EXON Missense_V2034M exm1228598 16 27473745 [A/G] NM_001520 GTF3C1 EXON Missense_L1996P exm1228604 16 27474869 [A/G] NM_001520 GTF3C1 EXON Missense_R1973W exm1228606 16 27474910 [A/G] NM_001520 GTF3C1 EXON Missense_F1959S exm1228622 16 27475887 [T/C] NM_001520 GTF3C1 EXON Missense_E1876K exm1228634 16 27476061 [A/G] NM_001520 GTF3C1 EXON Missense_R1818W exm1228644 16 27476649 [A/G] NM_001520 GTF3C1 EXON Missense_R1763C exm1228660 16 27480797 [T/C] NM_001520 GTF3C1 EXON Missense_R1630H exm1228661 16 27480821 [A/G] NM_001520 GTF3C1 EXON Missense_L1622S exm1228669 16 27481532 [T/C] NM_001520 GTF3C1 EXON Missense_V1571I exm1853238 16 27481681 [A/G] NM_001520 GTF3C1 EXON Missense_T1521M exm1228693 16 27489852 [T/C] NM_001520 GTF3C1 EXON Synonymous_R1399R exm1853262 16 27499652 [T/C] NM_001520 GTF3C1 EXON Missense_R1199Q exm1853263 16 27499714 [G/C] NM_001520 GTF3C1 EXON Missense_W1178C exm1228723 16 27500491 [T/C] NM_001520 GTF3C1 EXON Missense_R1101H exm1228737 16 27503938 [T/C] NM_001520 GTF3C1 EXON Synonymous_Q991Q exm1228744 16 27504571 [A/G] NM_001520 GTF3C1 EXON Missense_T942M exm1228752 16 27506188 [T/C] NM_001520 GTF3C1 EXON Missense_I892V exm1228754 16 27506218 [T/C] NM_001520 GTF3C1 EXON Missense_D882N exm1228758 16 27506540 [A/G] NM_001520 GTF3C1 EXON Missense_T875M exm1228759 16 27506594 [A/G] NM_001520 GTF3C1 EXON Missense_P857L exm1228760 16 27506606 [T/C] NM_001520 GTF3C1 EXON Missense_C853Y exm1228763 16 27506636 [A/G] NM_001520 GTF3C1 EXON Missense_P843L exm1228765 16 27506685 [T/C] NM_001520 GTF3C1 EXON Missense_S827G exm2252532 16 27506728 [A/G] NM_001520 GTF3C1 EXON Synonymous_Y812Y exm1228777 16 27509131 [A/G] NM_001520 GTF3C1 EXON Missense_S726F exm1228779 16 27509969 [T/C] NM_001520 GTF3C1 EXON Missense_N716S exm1228829 16 27539991 [T/C] NM_001520 GTF3C1 EXON Missense_G301R exm1228834 16 27544637 [A/G] NM_001520 GTF3C1 EXON Missense_T275M exm1228836 16 27544655 [T/C] NM_001520 GTF3C1 EXON Missense_R269Q exm1228854 16 27556736 [G/C] NM_001520 GTF3C1 EXON Missense_I110M exm1228857 16 27561037 [A/T] NM_001520 GTF3C1 EXON Missense_F59I exm1228876 16 27585263 [T/C] NM_015202 KIAA0556 EXON Nonsense_R17X exm1228881 16 27629821 [T/C] NM_015202 KIAA0556 EXON Missense_R47W exm1228885 16 27640050 [C/G] NM_015202 KIAA0556 EXON Missense_S70C exm1853360 16 27640095 [A/G] NM_015202 KIAA0556 EXON Missense_R85Q exm1228900 16 27660031 [A/G] NM_015202 KIAA0556 EXON Missense_N172S exm1228909 16 27689120 [A/G] NM_015202 KIAA0556 EXON Missense_Y204C exm1228910 16 27689137 [T/G] NM_015202 KIAA0556 EXON Missense_D210Y exm1228927 16 27692830 [A/G] NM_015202 KIAA0556 EXON Missense_D307N exm1228928 16 27692833 [T/C] NM_015202 KIAA0556 EXON Nonsense_Q308X exm1228932 16 27709754 [T/C] NM_015202 KIAA0556 EXON Missense_V349A exm1228948 16 27712962 [T/G] NM_015202 KIAA0556 EXON Missense_G411V exm1853398 16 27713013 [T/G] NM_015202 KIAA0556 EXON Missense_S428I exm1228953 16 27715275 [A/G] NM_015202 KIAA0556 EXON Missense_G449S exm1228956 16 27715321 [T/C] NM_015202 KIAA0556 Silent exm1228964 16 27720188 [T/C] NM_015202 KIAA0556 EXON Missense_R518W exm1228965 16 27720201 [T/C] NM_015202 KIAA0556 EXON Missense_T522M exm1228975 16 27732993 [T/C] NM_015202 KIAA0556 EXON Missense_R574W exm1228976 16 27733003 [A/G] NM_015202 KIAA0556 EXON Nonsense_W577X exm1228977 16 27733016 [A/C] NM_015202 KIAA0556 EXON Synonymous_G581G exm1228984 16 27751497 [A/G] NM_015202 KIAA0556 EXON Missense_E627K exm1228987 16 27751528 [T/C] NM_015202 KIAA0556 EXON Missense_S637L exm1228991 16 27751639 [A/C] NM_015202 KIAA0556 EXON Missense_Q674P exm1228992 16 27751669 [A/C] NM_015202 KIAA0556 EXON Missense_S684Y exm1228994 16 27751681 [A/G] NM_015202 KIAA0556 EXON Missense_R688K exm1229002 16 27751803 [A/G] NM_015202 KIAA0556 EXON Missense_E729K exm1229005 16 27751870 [T/C] NM_015202 KIAA0556 EXON Missense_T751I exm1229009 16 27751984 [T/C] NM_015202 KIAA0556 EXON Missense_P789L exm1229013 16 27752085 [A/G] NM_015202 KIAA0556 EXON Missense_K823E exm1229014 16 27752087 [C/G] NM_015202 KIAA0556 EXON Missense_K823N exm1229016 16 27752134 [A/G] NM_015202 KIAA0556 EXON Missense_D839G exm1229019 16 27752151 [T/C] NM_015202 KIAA0556 EXON Missense_P845S exm1229022 16 27760917 [T/C] NM_015202 KIAA0556 EXON Missense_S879F exm1229031 16 27761028 [A/G] NM_015202 KIAA0556 EXON Missense_N916S exm1229032 16 27761040 [T/C] NM_015202 KIAA0556 EXON Missense_P920L exm1229036 16 27761090 [T/G] NM_015202 KIAA0556 EXON Missense_D937Y exm1229043 16 27761130 [T/C] NM_015202 KIAA0556 EXON Missense_S950L exm1229049 16 27761248 [G/C] NM_015202 KIAA0556 EXON Missense_H989Q exm1229058 16 27761369 [A/G] NM_015202 KIAA0556 EXON Missense_V1030M exm2224554 16 27761489 [A/G] NM_015202 KIAA0556 EXON Missense_V1070I exm1229084 16 27763243 [T/C] NM_015202 KIAA0556 EXON Missense_R1184W exm1229093 16 27772754 [A/G] NM_015202 KIAA0556 EXON Missense_A1218T exm1229096 16 27772821 [T/C] NM_015202 KIAA0556 EXON Missense_A1240V exm1229100 16 27772880 [A/G] NM_015202 KIAA0556 EXON Missense_E1260K exm2252534 16 27772891 [T/C] NM_015202 KIAA0556 EXON Synonymous_D1263D exm1229104 16 27772901 [A/G] NM_015202 KIAA0556 EXON Missense_A1267T exm1229108 16 27777733 [A/G] NM_015202 KIAA0556 EXON Missense_E1305K exm1229124 16 27781232 [C/G] NM_015202 KIAA0556 EXON Missense_E1342D exm1229128 16 27781309 [A/G] NM_015202 KIAA0556 EXON Missense_R1368Q exm1229129 16 27781315 [A/G] NM_015202 KIAA0556 EXON Missense_Q1370R exm1229135 16 27784497 [A/G] NM_015202 KIAA0556 EXON Missense_E1426K exm1229139 16 27786289 [A/G] NM_015202 KIAA0556 EXON Missense_V1445M exm1853456 16 27786313 [A/G] NM_015202 KIAA0556 EXON Missense_G1453R exm1229145 16 27786398 [T/C] NM_015202 KIAA0556 EXON Missense_P1481L exm1229164 16 27789048 [A/G] NM_015202 KIAA0556 EXON Missense_E1557K exm1229169 16 27789090 [A/G] NM_015202 KIAA0556 EXON Missense_S1571G exm1229171 16 27789234 [T/C] NM_015202 KIAA0556 EXON Missense_M1582T exm1229174 16 27789278 [A/G] NM_015202 KIAA0556 EXON Missense_V1597I exm1229180 16 27789936 [T/C] NM_015202 KIAA0556 EXON Nonsense_R1615X exm1229181 16 27789939 [T/C] NM_015202 KIAA0556 EXON Missense_R1616W exm1229197 16 27840152 [A/G] NM_144675,NM_001109763 GSG1L,GSG1L EXON Missense_P108L,Missense_P263L exm2267884 16 27966405 [A/G] NM_001109763 GSG1L Silent exm1229240 16 28112999 [T/C] NM_001270940,NM_015171 XPO6,XPO6 EXON Missense_R1005Q,Missense_R1019Q exm1229247 16 28116004 [T/C] NM_001270940,NM_015171 XPO6,XPO6 EXON Missense_E923K,Missense_E937K exm1229294 16 28137151 [A/G] NM_001270940,NM_015171 XPO6,XPO6 EXON Missense_T528M,Missense_T542M exm1853603 16 28143678 [T/C] NM_001270940,NM_015171 XPO6,XPO6 EXON Missense_Q514R,Missense_Q528R exm1229300 16 28145236 [G/C] NM_001270940,NM_015171 XPO6,XPO6 EXON Missense_R474G,Missense_R488G exm1229308 16 28167483 [A/C] NM_001270940,NM_015171 XPO6,XPO6 EXON Missense_F323V,Missense_F337V exm2224564 16 28167623 [A/G] NM_001270940,NM_015171 XPO6,XPO6 EXON Missense_A276V,Missense_A290V exm1229331 16 28181093 [A/C] NM_001270940,NM_015171 XPO6,XPO6 EXON Missense_Q167H,Missense_Q181H exm1229333 16 28181222 [A/C] NM_001270940,NM_015171 XPO6,XPO6 EXON Missense_Q124H,Missense_Q138H exm1229342 16 28328747 [A/G] NM_001024401 SBK1 EXON Missense_R12H exm1229459 16 28488943 [T/C] NM_001042432,NM_000086 CLN3,CLN3 EXON Missense_H404R,Missense_H404R exm1229460 16 28488944 [T/G] NM_001042432,NM_000086 CLN3,CLN3 EXON Missense_H404N,Missense_H404N exm-rs151181 16 28490517 [T/C] NM_001042432,NM_000086 CLN3,CLN3 Silent,Silent exm1229471 16 28493455 [A/G] NM_001042432,NM_000086 CLN3,CLN3 EXON Missense_R343C,Missense_R343C exm1229500 16 28498845 [T/C] NM_001042432,NM_000086 CLN3,CLN3 EXON Missense_S131N,Missense_S131N exm1229505 16 28499044 [T/C] NM_001042432,NM_000086 CLN3,CLN3 EXON Missense_I105V,Missense_I105V exm1229510 16 28499964 [A/G] NM_001042432,NM_000086 CLN3,CLN3 EXON Missense_P81L,Missense_P81L exm1229511 16 28499968 [T/A] NM_001042432,NM_000086 CLN3,CLN3 EXON Missense_T80S,Missense_T80S exm1229512 16 28500611 [A/G] NM_001042432,NM_000086 CLN3,CLN3 EXON Synonymous_H74H,Synonymous_H74H exm1229533 16 28506882 [A/G] NM_018690 APOBR EXON Missense_R174G exm1229541 16 28507029 [A/G] NM_018690 APOBR EXON Missense_E223K exm1229548 16 28507179 [A/G] NM_018690 APOBR EXON Missense_E273K exm1229549 16 28507185 [T/C] NM_018690 APOBR EXON Missense_W275R exm1229550 16 28507245 [A/G] NM_018690 APOBR EXON Missense_I295V exm1229551 16 28507258 [A/C] NM_018690 APOBR EXON Missense_E299A exm1229561 16 28507335 [A/G] NM_018690 APOBR EXON Missense_G325R exm1229584 16 28507695 [A/G] NM_018690 APOBR EXON Missense_A445T exm1229588 16 28507806 [T/C] NM_018690 APOBR EXON Missense_R482W exm1229590 16 28507855 [A/G] NM_018690 APOBR EXON Missense_R498K exm2252537 16 28508006 [T/C] NM_018690 APOBR EXON Synonymous_G548G exm1229606 16 28508107 [T/C] NM_018690 APOBR EXON Missense_A582V exm1229621 16 28508320 [T/C] NM_018690 APOBR EXON Missense_A653V exm1229626 16 28508413 [A/G] NM_018690 APOBR EXON Missense_Q684R exm1229635 16 28508491 [A/G] NM_018690 APOBR EXON Missense_D710G exm1229636 16 28508506 [T/C] NM_018690 APOBR EXON Missense_P715L exm1229640 16 28508577 [C/G] NM_018690 APOBR EXON Missense_G739R exm1229648 16 28508716 [T/C] NM_018690 APOBR EXON Missense_V785A exm1229649 16 28508782 [A/C] NM_018690 APOBR EXON Missense_Q807P exm1229654 16 28508916 [A/G] NM_018690 APOBR EXON Missense_S852G exm1229669 16 28509238 [T/C] NM_018690 APOBR EXON Missense_A959V exm1229672 16 28509414 [A/G] NM_018690 APOBR EXON Missense_G990R exm1229681 16 28509564 [T/C] NM_018690 APOBR EXON Missense_S1040P exm1229687 16 28509768 [T/C] NM_018690 APOBR EXON Missense_A1079V exm1229705 16 28513376 [A/C] NM_145659 IL27 EXON Missense_R128L exm1229706 16 28513403 [A/G] NM_145659 IL27 EXON Missense_L119P exm1229715 16 28515228 [A/C] NM_145659 IL27 EXON Missense_S59A exm-rs4788084 16 28539848 [T/C] exm1229724 16 28549357 [A/G] NM_012385,NM_001042483 NUPR1,NUPR1 EXON Nonsense_R78X,Nonsense_R96X exm1229734 16 28549471 [T/C] NM_012385,NM_001042483 NUPR1,NUPR1 EXON Missense_G40R,Missense_G58R exm1229741 16 28550174 [T/C] NM_012385,NM_001042483 NUPR1,NUPR1 EXON Missense_D19N,Missense_D19N exm1229748 16 28592459 [A/T] NM_138414 CCDC101 EXON Missense_Q23H exm1853853 16 28603710 [A/C] NM_001054,NM_177528 SULT1A2,SULT1A2 EXON Nonsense_E217X,Nonsense_E217X exm1229811 16 28603736 [A/C] NM_001054,NM_177528 SULT1A2,SULT1A2 EXON Missense_L208R,Missense_L208R exm1229812 16 28603757 [T/C] NM_001054,NM_177528 SULT1A2,SULT1A2 EXON Missense_K201R,Missense_K201R exm1229823 16 28604628 [T/C] NM_001054,NM_177528 SULT1A2,SULT1A2 EXON Nonsense_W180X,Nonsense_W180X exm1229928 16 28618332 [A/T] NM_177536,NM_177529,NM_001055,NM_177534,NM_177530 SULT1A1,SULT1A1,SULT1A1,SULT1A1,SULT1A1 EXON Nonsense_K69X,Nonsense_K147X,Nonsense_K147X,Nonsense_K147X,Nonsense_K147X exm2272358 16 28618708 [T/C] NM_177536,NM_177529,NM_001055,NM_177534,NM_177530 SULT1A1,SULT1A1,SULT1A1,SULT1A1,SULT1A1 Silent,Silent,Silent,Silent,Silent exm1229980 16 28631383 [C/G] NM_177536 SULT1A1 Silent exm1230010 16 28734571 [A/G] NM_001199142,NM_001267574,NM_001037808,NM_003752,NM_001099661 EIF3C,EIF3C,EIF3C,EIF3C,EIF3CL EXON Missense_R288H,Missense_R288H,Missense_R288H,Missense_R288H,Missense_R288H exm-rs8049439 16 28837515 [T/C] NM_145714,NM_007245,NM_017492,NM_148415,NM_148416,NM_148414 ATXN2L,ATXN2L,ATXN2L,ATXN2L,ATXN2L,ATXN2L Silent,Silent,Silent,Silent,Silent,Silent exm1230060 16 28837588 [T/C] NM_145714,NM_007245,NM_017492,NM_148415,NM_148416,NM_148414 ATXN2L,ATXN2L,ATXN2L,ATXN2L,ATXN2L,ATXN2L EXON Missense_R165W,Missense_R165W,Missense_R165W,Missense_R165W,Missense_R165W,Missense_R165W exm1230062 16 28837621 [T/C] NM_145714,NM_007245,NM_017492,NM_148415,NM_148416,NM_148414 ATXN2L,ATXN2L,ATXN2L,ATXN2L,ATXN2L,ATXN2L EXON Missense_R176W,Missense_R176W,Missense_R176W,Missense_R176W,Missense_R176W,Missense_R176W exm1230064 16 28837687 [A/G] NM_145714,NM_007245,NM_017492,NM_148415,NM_148416,NM_148414 ATXN2L,ATXN2L,ATXN2L,ATXN2L,ATXN2L,ATXN2L EXON Missense_V198I,Missense_V198I,Missense_V198I,Missense_V198I,Missense_V198I,Missense_V198I exm1230074 16 28841222 [G/C] NM_145714,NM_007245,NM_017492,NM_148415,NM_148416,NM_148414 ATXN2L,ATXN2L,ATXN2L,ATXN2L,ATXN2L,ATXN2L EXON Missense_E293Q,Missense_E293Q,Missense_E293Q,Missense_E293Q,Missense_E293Q,Missense_E293Q exm1230084 16 28842004 [C/G] NM_145714,NM_007245,NM_017492,NM_148415,NM_148416,NM_148414 ATXN2L,ATXN2L,ATXN2L,ATXN2L,ATXN2L,ATXN2L EXON Missense_S368T,Missense_S368T,Missense_S368T,Missense_S368T,Missense_S368T,Missense_S368T exm1230181 16 28846877 [T/C] NM_145714,NM_007245,NM_017492,NM_148415,NM_148416,NM_148414 ATXN2L,ATXN2L,ATXN2L,ATXN2L,ATXN2L,ATXN2L EXON Missense_A898V,Missense_A898V,Missense_A898V,Missense_A898V,Missense_A898V,Missense_A898V exm1230200 16 28847491 [A/G] NM_145714,NM_007245,NM_017492,NM_148415,NM_148416,NM_148414 ATXN2L,ATXN2L,ATXN2L,ATXN2L,ATXN2L,ATXN2L EXON Missense_R1045G,Missense_R1045G,Missense_R1045G,Silent,Silent,Missense_R1045G exm1230225 16 28854372 [T/C] NM_003321 TUFM EXON Missense_N431S exm1230253 16 28856081 [T/C] NM_003321 TUFM EXON Missense_E208K exm1230259 16 28856321 [T/C] NM_003321 TUFM EXON Missense_N157S exm1230269 16 28857363 [G/C] NM_003321 TUFM EXON Missense_L39F exm1230274 16 28857416 [T/C] NM_003321 TUFM EXON Missense_G22S exm1230289 16 28877684 [A/C] NM_001145795,NM_001145796,NM_001145797,NM_001145812,NM_015503 SH2B1,SH2B1,SH2B1,SH2B1,SH2B1 EXON Missense_P90H,Missense_P90H,Missense_P90H,Missense_P90H,Missense_P90H exm1230290 16 28877711 [T/C] NM_001145795,NM_001145796,NM_001145797,NM_001145812,NM_015503 SH2B1,SH2B1,SH2B1,SH2B1,SH2B1 EXON Missense_A99V,Missense_A99V,Missense_A99V,Missense_A99V,Missense_A99V exm1230297 16 28877864 [A/G] NM_001145795,NM_001145796,NM_001145797,NM_001145812,NM_015503 SH2B1,SH2B1,SH2B1,SH2B1,SH2B1 EXON Missense_K150R,Missense_K150R,Missense_K150R,Missense_K150R,Missense_K150R exm1230300 16 28877939 [A/C] NM_001145795,NM_001145796,NM_001145797,NM_001145812,NM_015503 SH2B1,SH2B1,SH2B1,SH2B1,SH2B1 EXON Missense_T175N,Missense_T175N,Missense_T175N,Missense_T175N,Missense_T175N exm1230314 16 28878202 [A/C] NM_001145795,NM_001145796,NM_001145797,NM_001145812,NM_015503 SH2B1,SH2B1,SH2B1,SH2B1,SH2B1 EXON Missense_P263T,Missense_P263T,Missense_P263T,Missense_P263T,Missense_P263T exm1230356 16 28883975 [T/C] NM_001145795,NM_001145796,NM_001145797,NM_001145812,NM_015503 SH2B1,SH2B1,SH2B1,SH2B1,SH2B1 EXON Missense_S616P,Missense_S616P,Missense_S616P,Missense_S616P,Missense_S616P exm1230357 16 28883993 [A/G] NM_001145795,NM_001145796,NM_001145797,NM_001145812,NM_015503 SH2B1,SH2B1,SH2B1,SH2B1,SH2B1 EXON Missense_V622I,Missense_V622I,Missense_V622I,Missense_V622I,Missense_V622I exm1230366 16 28884858 [T/C] NM_001145795,NM_001145796,NM_001145797,NM_001145812,NM_015503 SH2B1,SH2B1,SH2B1,SH2B1,SH2B1 EXON Missense_A663V,Silent,Silent,Silent,Silent exm-rs7359397 16 28885659 [T/C] exm1230377 16 28890101 [A/G] NM_004320,NM_173201 ATP2A1,ATP2A1 EXON Missense_G37S,Missense_G37S exm1230393 16 28898545 [A/G] NM_004320,NM_173201 ATP2A1,ATP2A1 EXON Missense_V194I,Missense_V194I exm1230401 16 28898954 [A/G] NM_004320,NM_173201 ATP2A1,ATP2A1 EXON Missense_N280S,Missense_N280S exm1854131 16 28898955 [A/C] NM_004320,NM_173201 ATP2A1,ATP2A1 EXON Missense_N280K,Missense_N280K exm1854140 16 28905848 [T/C] NM_004320,NM_173201 ATP2A1,ATP2A1 EXON Missense_R403W,Missense_R403W exm1230420 16 28905849 [A/G] NM_004320,NM_173201 ATP2A1,ATP2A1 EXON Missense_R403Q,Missense_R403Q exm1230428 16 28906222 [A/G] NM_004320,NM_173201 ATP2A1,ATP2A1 EXON Missense_N456S,Missense_N456S exm1230429 16 28906225 [T/C] NM_004320,NM_173201 ATP2A1,ATP2A1 EXON Missense_T457M,Missense_T457M exm1230434 16 28909328 [A/G] NM_004320,NM_173201 ATP2A1,ATP2A1 EXON Missense_R476H,Missense_R476H exm1230444 16 28909627 [T/C] NM_004320,NM_173201 ATP2A1,ATP2A1 EXON Missense_P540L,Missense_P540L exm1230463 16 28912085 [A/G] NM_004320,NM_173201 ATP2A1,ATP2A1 EXON Missense_D650N,Missense_D650N exm1230465 16 28912098 [T/C] NM_004320,NM_173201 ATP2A1,ATP2A1 EXON Missense_T654M,Missense_T654M exm1230494 16 28913641 [A/C] NM_004320,NM_173201 ATP2A1,ATP2A1 EXON Missense_P820T,Missense_P820T exm1230542 16 28916802 [A/C] NM_024816 RABEP2 EXON Missense_R508S exm1230566 16 28922259 [A/T] NM_024816 RABEP2 EXON Missense_T347S exm1854209 16 28922471 [A/G] NM_024816 RABEP2 EXON Synonymous_S308S exm1230573 16 28925694 [A/G] NM_024816 RABEP2 EXON Missense_R253C exm1230574 16 28925720 [T/C] NM_024816 RABEP2 EXON Missense_G244D exm1230587 16 28926090 [A/G] NM_024816 RABEP2 EXON Missense_S149L exm1230616 16 28944271 [T/G] NM_001178098,NM_001770 CD19,CD19 EXON Missense_L132R,Missense_L132R exm2252540 16 28944282 [T/C] NM_001178098,NM_001770 CD19,CD19 EXON Synonymous_L136L,Synonymous_L136L exm1230621 16 28944396 [C/G] NM_001178098,NM_001770 CD19,CD19 EXON Missense_L174V,Missense_L174V exm1230665 16 28950051 [A/G] NM_001178098,NM_001770 CD19,CD19 EXON Missense_R515H,Missense_R514H exm1230695 16 28967352 [T/C] NM_032815 NFATC2IP EXON Missense_T211M exm1230712 16 28970326 [A/G] NM_032815 NFATC2IP EXON Missense_T336A exm1230715 16 28970342 [T/C] NM_032815 NFATC2IP EXON Missense_A341V exm1230744 16 28990587 [T/C] NM_001142448,NM_001142451,NM_001142450,NM_032038,NM_001142449 SPNS1,SPNS1,SPNS1,SPNS1,SPNS1 EXON Missense_R186W,Missense_R186W,Missense_R113W,Missense_R186W,Missense_R164W exm1230745 16 28990588 [A/G] NM_001142448,NM_001142451,NM_001142450,NM_032038,NM_001142449 SPNS1,SPNS1,SPNS1,SPNS1,SPNS1 EXON Missense_R186Q,Missense_R186Q,Missense_R113Q,Missense_R186Q,Missense_R164Q exm1230753 16 28992903 [T/C] NM_001142448,NM_001142451,NM_001142450,NM_032038,NM_001142449 SPNS1,SPNS1,SPNS1,SPNS1,SPNS1 EXON Missense_S259L,Missense_S259L,Missense_S186L,Missense_S259L,Missense_S237L exm2272432 16 28995057 [T/C] NM_001142448,NM_001142451,NM_001142450,NM_032038,NM_001142449 SPNS1,SPNS1,SPNS1,SPNS1,SPNS1 Silent,Silent,Silent,Silent,Silent exm1230797 16 28995189 [T/C] NM_001142448,NM_001142451,NM_001142450,NM_032038,NM_001142449 SPNS1,SPNS1,SPNS1,SPNS1,SPNS1 EXON Missense_A468V,Missense_A416V,Missense_A395V,Missense_A468V,Missense_A394V exm1230809 16 28995582 [T/C] NM_001142448,NM_001142451,NM_001142450,NM_032038,NM_001142449 SPNS1,SPNS1,SPNS1,SPNS1,SPNS1 EXON Missense_R517C,Missense_R465C,Missense_R444C,Missense_R517C,Missense_R443C exm1230810 16 28995583 [A/G] NM_001142448,NM_001142451,NM_001142450,NM_032038,NM_001142449 SPNS1,SPNS1,SPNS1,SPNS1,SPNS1 EXON Missense_R517H,Missense_R465H,Missense_R444H,Missense_R517H,Missense_R443H exm2273534 16 28995757 [A/C] NM_001142448,NM_001142451,NM_001142450,NM_032038,NM_001142449 SPNS1,SPNS1,SPNS1,SPNS1,SPNS1 EXON Silent,Silent,Silent,Silent,Silent exm1230821 16 28996725 [A/G] NM_001014989,NM_001014988,NM_014387,NM_001014987 LAT,LAT,LAT,LAT EXON Missense_R32Q,Silent,Silent,Silent exm1230822 16 28996757 [T/G] NM_001014989,NM_001014988,NM_014387,NM_001014987 LAT,LAT,LAT,LAT EXON Missense_V43F,Missense_V7F,Missense_V7F,Missense_V7F exm1230835 16 28997204 [A/G] NM_001014989,NM_001014988,NM_014387,NM_001014987 LAT,LAT,LAT,LAT EXON Missense_R89Q,Missense_R53Q,Missense_R53Q,Missense_R53Q exm1230839 16 28997537 [T/C] NM_001014989,NM_001014988,NM_014387,NM_001014987 LAT,LAT,LAT,LAT EXON Missense_P118L,Missense_P82L,Missense_P82L,Missense_P82L exm1230859 16 28998143 [T/C] NM_001014989,NM_001014988,NM_014387,NM_001014987 LAT,LAT,LAT,LAT EXON Missense_P177L,Missense_P140L,Missense_P170L,Missense_P141L exm1854329 16 28998167 [T/C] NM_001014989,NM_001014988,NM_014387,NM_001014987 LAT,LAT,LAT,LAT EXON Missense_S185L,Missense_S148L,Missense_S178L,Missense_S149L exm1230878 16 29001143 [T/C] NM_001014989,NM_001014988,NM_014387,NM_001014987 LAT,LAT,LAT,LAT EXON Missense_A238V,Missense_A201V,Missense_A231V,Missense_A202V exm2252541 16 29043450 [T/G] exm-rs3764276 16 29673203 [T/C] exm1230911 16 29675114 [T/C] NM_001030288,NM_003123 SPN,SPN EXON Missense_T22I,Missense_T22I exm1230919 16 29675326 [A/G] NM_001030288,NM_003123 SPN,SPN EXON Missense_T93A,Missense_T93A exm1230926 16 29675507 [T/C] NM_001030288,NM_003123 SPN,SPN EXON Missense_T153M,Missense_T153M exm1230945 16 29675792 [T/C] NM_001030288,NM_003123 SPN,SPN EXON Missense_P248L,Missense_P248L exm1230948 16 29675846 [T/C] NM_001030288,NM_003123 SPN,SPN EXON Missense_A266V,Missense_A266V exm1230950 16 29675855 [T/C] NM_001030288,NM_003123 SPN,SPN EXON Missense_V269A,Missense_V269A exm1230953 16 29675884 [T/C] NM_001030288,NM_003123 SPN,SPN EXON Missense_R279W,Missense_R279W exm1230967 16 29676061 [T/C] NM_001030288,NM_003123 SPN,SPN EXON Missense_R338C,Missense_R338C exm2224602 16 29676071 [T/C] NM_001030288,NM_003123 SPN,SPN EXON Missense_T341M,Missense_T341M exm1230996 16 29706444 [T/C] NM_014298 QPRT EXON Missense_A158V exm1231003 16 29708350 [A/G] NM_014298 QPRT EXON Missense_T195A exm1231008 16 29708541 [A/G] NM_014298 QPRT EXON Missense_V235M exm1231011 16 29708612 [G/C] NM_014298 QPRT EXON Missense_Q258H exm1231020 16 29755702 [A/G] NM_175900 C16orf54 EXON Missense_R191W exm1854454 16 29756098 [A/G] NM_175900 C16orf54 EXON Missense_R59C exm2267937 16 29775947 [A/G] exm1231045 16 29790864 [A/G] NM_152338 ZG16 EXON Missense_G32S exm1231053 16 29791561 [T/G] NM_152338 ZG16 EXON Missense_L109V exm1231054 16 29791575 [G/C] NM_152338 ZG16 EXON Missense_D113E exm1231055 16 29791721 [G/C] NM_152338 ZG16 EXON Missense_S162T exm1231063 16 29808241 [T/C] NM_007317,NM_001256269,NM_001256270 KIF22,KIF22,KIF22 EXON Missense_I33T,Silent,Silent exm1231073 16 29809964 [T/C] NM_007317,NM_001256269,NM_001256270 KIF22,KIF22,KIF22 EXON Missense_R149W,Missense_R81W,Missense_R81W exm1231083 16 29810601 [A/G] NM_007317,NM_001256269,NM_001256270 KIF22,KIF22,KIF22 EXON Missense_R259H,Missense_R191H,Missense_R191H exm1231089 16 29810774 [T/C] NM_007317,NM_001256269,NM_001256270 KIF22,KIF22,KIF22 EXON Missense_R317C,Missense_R249C,Missense_R249C exm1231092 16 29811006 [T/C] NM_007317,NM_001256269,NM_001256270 KIF22,KIF22,KIF22 EXON Missense_R350C,Missense_R282C,Missense_R282C exm1231094 16 29811027 [A/T] NM_007317,NM_001256269,NM_001256270 KIF22,KIF22,KIF22 EXON Missense_S357T,Missense_S289T,Missense_S289T exm1231097 16 29811064 [A/T] NM_007317,NM_001256269,NM_001256270 KIF22,KIF22,KIF22 EXON Missense_I369N,Missense_I301N,Missense_I301N exm1854508 16 29814134 [A/G] NM_007317,NM_001256269,NM_001256270 KIF22,KIF22,KIF22 EXON Missense_R442H,Missense_R374H,Missense_R374H exm1231112 16 29814148 [A/G] NM_007317,NM_001256269,NM_001256270 KIF22,KIF22,KIF22 EXON Missense_D447N,Missense_D379N,Missense_D379N exm1231114 16 29814206 [A/G] NM_007317,NM_001256269,NM_001256270 KIF22,KIF22,KIF22 EXON Missense_R466Q,Missense_R398Q,Missense_R398Q exm1231142 16 29816237 [A/G] NM_007317,NM_001256269,NM_001256270 KIF22,KIF22,KIF22 EXON Missense_D594N,Missense_D526N,Missense_D526N exm2252546 16 29818634 [T/C] NM_001276275,NR_074080,NM_002383,NM_001042539,NM_001276276 MAZ,MAZ,MAZ,MAZ,MAZ EXON Synonymous_V153V,Silent,Synonymous_V176V,Synonymous_V176V,Silent exm1231214 16 29820007 [C/G] NM_001276275,NR_074080,NM_002383,NM_001042539,NM_001276276 MAZ,MAZ,MAZ,MAZ,MAZ EXON Missense_D385E,Silent,Missense_D408E,Missense_D408E,Missense_D103E exm1231250 16 29824442 [A/G] NM_145239,NM_001256443,NM_001256442 PRRT2,PRRT2,PRRT2 EXON Missense_E23K,Missense_E23K,Missense_E23K exm1231251 16 29824508 [T/C] NM_145239,NM_001256443,NM_001256442 PRRT2,PRRT2,PRRT2 EXON Missense_P45S,Missense_P45S,Missense_P45S exm1231261 16 29824809 [A/G] NM_145239,NM_001256443,NM_001256442 PRRT2,PRRT2,PRRT2 EXON Missense_R145Q,Missense_R145Q,Missense_R145Q exm1231274 16 29825055 [A/G] NM_145239,NM_001256443,NM_001256442 PRRT2,PRRT2,PRRT2 EXON Missense_R227Q,Missense_R227Q,Missense_R227Q exm1231288 16 29825949 [T/C] NM_145239,NM_001256443,NM_001256442 PRRT2,PRRT2,PRRT2 EXON Missense_V338A,Silent,Missense_V392A exm2252547 16 29830928 [A/G] NM_024516 PAGR1 EXON Synonymous_S206S exm1231333 16 29841950 [A/G] NM_005115,NM_017458 MVP,MVP EXON Missense_R27H,Missense_R27H exm1231342 16 29842230 [A/G] NM_005115,NM_017458 MVP,MVP EXON Missense_V53I,Missense_V53I exm1231345 16 29842273 [A/G] NM_005115,NM_017458 MVP,MVP EXON Missense_R67Q,Missense_R67Q exm1231348 16 29842323 [T/C] NM_005115,NM_017458 MVP,MVP EXON Missense_R84C,Missense_R84C exm1231361 16 29845271 [A/G] NM_005115,NM_017458 MVP,MVP EXON Missense_R154Q,Missense_R154Q exm1231370 16 29847112 [T/C] NM_005115,NM_017458 MVP,MVP EXON Missense_T222M,Missense_T222M exm1231372 16 29847120 [A/G] NM_005115,NM_017458 MVP,MVP Silent,Silent exm1231393 16 29851499 [A/G] NM_005115,NM_017458 MVP,MVP EXON Missense_G304R,Missense_G304R exm1231421 16 29853145 [T/C] NM_005115,NM_017458 MVP,MVP EXON Nonsense_R474X,Nonsense_R474X exm1231422 16 29853160 [T/C] NM_005115,NM_017458 MVP,MVP EXON Missense_R479C,Missense_R479C exm1231425 16 29853262 [T/C] NM_005115,NM_017458 MVP,MVP EXON Missense_S488L,Missense_S488L exm1231427 16 29853318 [T/C] NM_005115,NM_017458 MVP,MVP EXON Missense_R507C,Missense_R507C exm1231434 16 29855834 [A/G] NM_005115,NM_017458 MVP,MVP EXON Missense_R552Q,Missense_R552Q exm1231437 16 29855890 [A/G] NM_005115,NM_017458 MVP,MVP EXON Missense_A571T,Missense_A571T exm1231448 16 29856037 [T/C] NM_005115,NM_017458 MVP,MVP EXON Missense_P620S,Missense_P620S exm1231449 16 29856046 [T/C] NM_005115,NM_017458 MVP,MVP EXON Missense_R623W,Missense_R623W exm1231450 16 29856082 [A/G] NM_005115,NM_017458 MVP,MVP EXON Missense_V635I,Missense_V635I exm2224613 16 29856131 [A/G] NM_005115,NM_017458 MVP,MVP EXON Missense_R651Q,Missense_R651Q exm2252548 16 29856195 [A/G] NM_005115,NM_017458 MVP,MVP EXON Synonymous_A672A,Synonymous_A672A exm1231455 16 29856195 [A/G] NM_005115,NM_017458 MVP,MVP EXON Synonymous_A672A,Synonymous_A672A exm1231462 16 29857231 [A/G] NM_005115,NM_017458 MVP,MVP EXON Missense_R690Q,Missense_R690Q exm1231478 16 29859305 [T/C] NM_005115,NM_017458 MVP,MVP EXON Missense_R893C,Missense_R893C exm1231488 16 29871906 [A/G] NM_006319 CDIPT EXON Missense_S137L exm1231499 16 29872565 [A/G] NM_006319 CDIPT EXON Missense_A65V exm1231519 16 29883758 [T/C] NM_001114099,NM_001114100,NM_001243333,NM_012410,NM_201575,NM_001243332 SEZ6L2,SEZ6L2,SEZ6L2,SEZ6L2,SEZ6L2,SEZ6L2 EXON Missense_G790S,Missense_G759S,Missense_G829S,Missense_G803S,Missense_G860S,Missense_G873S exm1231544 16 29884970 [T/C] NM_001114099,NM_001114100,NM_001243333,NM_012410,NM_201575,NM_001243332 SEZ6L2,SEZ6L2,SEZ6L2,SEZ6L2,SEZ6L2,SEZ6L2 EXON Missense_V659I,Missense_V615I,Missense_V685I,Missense_V659I,Missense_V729I,Missense_V729I exm-rs4787483 16 29885447 [A/G] NM_001114099,NM_001114100,NM_001243333,NM_012410,NM_201575,NM_001243332 SEZ6L2,SEZ6L2,SEZ6L2,SEZ6L2,SEZ6L2,SEZ6L2 Silent,Silent,Silent,Silent,Silent,Silent exm1231559 16 29888759 [T/G] NM_001114099,NM_001114100,NM_001243333,NM_012410,NM_201575,NM_001243332 SEZ6L2,SEZ6L2,SEZ6L2,SEZ6L2,SEZ6L2,SEZ6L2 EXON Missense_T511K,Missense_T467K,Missense_T537K,Missense_T511K,Missense_T581K,Missense_T581K exm1231568 16 29891206 [T/C] NM_001114099,NM_001114100,NM_001243333,NM_012410,NM_201575,NM_001243332 SEZ6L2,SEZ6L2,SEZ6L2,SEZ6L2,SEZ6L2,SEZ6L2 EXON Missense_D448N,Missense_D404N,Missense_D474N,Missense_D448N,Missense_D518N,Missense_D518N exm1231577 16 29896915 [T/C] NM_001114099,NM_001114100,NM_001243333,NM_012410,NM_201575,NM_001243332 SEZ6L2,SEZ6L2,SEZ6L2,SEZ6L2,SEZ6L2,SEZ6L2 EXON Missense_R385Q,Missense_R341Q,Missense_R411Q,Missense_R385Q,Missense_R455Q,Missense_R455Q exm1231589 16 29899021 [T/C] NM_001114099,NM_001114100,NM_001243333,NM_012410,NM_201575,NM_001243332 SEZ6L2,SEZ6L2,SEZ6L2,SEZ6L2,SEZ6L2,SEZ6L2 EXON Missense_R316H,Missense_R272H,Missense_R342H,Missense_R316H,Missense_R386H,Missense_R386H exm1231591 16 29899094 [T/C] NM_001114099,NM_001114100,NM_001243333,NM_012410,NM_201575,NM_001243332 SEZ6L2,SEZ6L2,SEZ6L2,SEZ6L2,SEZ6L2,SEZ6L2 EXON Missense_V292M,Missense_V248M,Missense_V318M,Missense_V292M,Missense_V362M,Missense_V362M exm1231594 16 29899123 [T/G] NM_001114099,NM_001114100,NM_001243333,NM_012410,NM_201575,NM_001243332 SEZ6L2,SEZ6L2,SEZ6L2,SEZ6L2,SEZ6L2,SEZ6L2 EXON Missense_T282N,Missense_T238N,Missense_T308N,Missense_T282N,Missense_T352N,Missense_T352N exm1231610 16 29906645 [T/C] NM_001114099,NM_001114100,NM_001243333,NM_012410,NM_201575,NM_001243332 SEZ6L2,SEZ6L2,SEZ6L2,SEZ6L2,SEZ6L2,SEZ6L2 EXON Missense_R193Q,Silent,Missense_R219Q,Missense_R193Q,Missense_R263Q,Missense_R263Q exm1231618 16 29906774 [A/G] NM_001114099,NM_001114100,NM_001243333,NM_012410,NM_201575,NM_001243332 SEZ6L2,SEZ6L2,SEZ6L2,SEZ6L2,SEZ6L2,SEZ6L2 EXON Missense_T150M,Silent,Missense_T176M,Missense_T150M,Missense_T220M,Missense_T220M exm1231624 16 29907116 [T/C] NM_001114099,NM_001114100,NM_001243333,NM_012410,NM_201575,NM_001243332 SEZ6L2,SEZ6L2,SEZ6L2,SEZ6L2,SEZ6L2,SEZ6L2 EXON Missense_V123I,Silent,Missense_V149I,Missense_V123I,Missense_V193I,Missense_V193I exm1231639 16 29908392 [A/C] NM_001114099,NM_001114100,NM_001243333,NM_012410,NM_201575,NM_001243332 SEZ6L2,SEZ6L2,SEZ6L2,SEZ6L2,SEZ6L2,SEZ6L2 EXON Silent,Missense_A88S,Missense_A44S,Silent,Missense_A88S,Missense_A88S exm1231640 16 29908412 [A/G] NM_001114099,NM_001114100,NM_001243333,NM_012410,NM_201575,NM_001243332 SEZ6L2,SEZ6L2,SEZ6L2,SEZ6L2,SEZ6L2,SEZ6L2 EXON Silent,Missense_P81L,Missense_P37L,Silent,Missense_P81L,Missense_P81L exm1854762 16 29912329 [A/G] NM_181718 ASPHD1 EXON Missense_G13R exm1231758 16 29974797 [A/G] NM_001083613,NM_194280 TMEM219,TMEM219 EXON Missense_R81Q,Missense_R81Q exm1231767 16 29979397 [A/G] NM_001083613,NM_194280 TMEM219,TMEM219 EXON Missense_R136K,Missense_R136K exm1231773 16 29979531 [T/G] NM_001083613,NM_194280 TMEM219,TMEM219 EXON Missense_V181F,Missense_V181F exm1231775 16 29979565 [T/C] NM_001083613,NM_194280 TMEM219,TMEM219 EXON Missense_L192P,Missense_L192P exm1231779 16 29982756 [A/C] NM_001083613,NM_194280 TMEM219,TMEM219 EXON Missense_L205M,Missense_L205M exm1231793 16 29989619 [A/G] NM_001252043,NM_016151,NM_004783 TAOK2,TAOK2,TAOK2 EXON Missense_R84Q,Missense_R84Q,Missense_R84Q exm1231843 16 29994945 [A/G] NM_001252043,NM_016151,NM_004783 TAOK2,TAOK2,TAOK2 EXON Missense_R461H,Missense_R461H,Missense_R461H exm1231862 16 29997064 [T/C] NM_001252043,NM_016151,NM_004783 TAOK2,TAOK2,TAOK2 EXON Missense_A625V,Missense_A625V,Missense_A625V exm1854836 16 29997648 [C/G] NM_001252043,NM_016151,NM_004783 TAOK2,TAOK2,TAOK2 EXON Missense_E685D,Missense_E685D,Missense_E685D exm1231881 16 29997925 [T/C] NM_001252043,NM_016151,NM_004783 TAOK2,TAOK2,TAOK2 EXON Silent,Missense_P778S,Silent exm1231889 16 29998031 [A/G] NM_001252043,NM_016151,NM_004783 TAOK2,TAOK2,TAOK2 EXON Silent,Missense_Q813R,Silent exm-rs4077410 16 29998200 [A/G] NM_001252043,NM_016151,NM_004783 TAOK2,TAOK2,TAOK2 EXON Synonymous_T756T,Synonymous_T869T,Silent exm1231923 16 29998895 [A/G] NM_001252043,NM_016151,NM_004783 TAOK2,TAOK2,TAOK2 EXON Missense_Q988R,Missense_Q1101R,Silent exm1231934 16 29999072 [A/G] NM_001252043,NM_016151,NM_004783 TAOK2,TAOK2,TAOK2 EXON Missense_R1047H,Missense_R1160H,Silent exm1231935 16 29999081 [A/G] NM_001252043,NM_016151,NM_004783 TAOK2,TAOK2,TAOK2 EXON Missense_R1050Q,Missense_R1163Q,Silent exm1231951 16 30001023 [A/G] NM_004783 TAOK2 EXON Missense_H781R exm1231959 16 30002123 [A/C] NM_004783 TAOK2 EXON Missense_Q822K exm1231964 16 30002259 [T/C] NM_004783 TAOK2 EXON Missense_A867V exm1231975 16 30002431 [T/C] NM_004783 TAOK2 EXON Missense_R898W exm1232006 16 30004603 [T/G] NM_003609,NM_001197323 HIRIP3,HIRIP3 EXON Missense_E532D,Silent exm1232008 16 30004623 [A/G] NM_003609,NM_001197323 HIRIP3,HIRIP3 EXON Missense_R526W,Silent exm1232014 16 30004789 [T/C] NM_003609,NM_001197323 HIRIP3,HIRIP3 EXON Missense_S500G,Silent exm1232016 16 30004800 [A/G] NM_003609,NM_001197323 HIRIP3,HIRIP3 EXON Missense_A496V,Silent exm1232024 16 30004990 [T/C] NM_003609,NM_001197323 HIRIP3,HIRIP3 EXON Missense_R460Q,Synonymous_P147P exm1232031 16 30005106 [G/C] NM_003609,NM_001197323 HIRIP3,HIRIP3 EXON Missense_E421D,Missense_G109R exm1232042 16 30005466 [T/C] NM_003609,NM_001197323 HIRIP3,HIRIP3 EXON Missense_E334K,Silent exm1854883 16 30005710 [G/C] NM_003609,NM_001197323 HIRIP3,HIRIP3 EXON Missense_E252D,Silent exm1232055 16 30005847 [T/C] NM_003609,NM_001197323 HIRIP3,HIRIP3 EXON Missense_T207A,Silent exm1232070 16 30006468 [C/G] NM_003609,NM_001197323 HIRIP3,HIRIP3 EXON Missense_C86S,Missense_C86S exm1232071 16 30006486 [T/C] NM_003609,NM_001197323 HIRIP3,HIRIP3 EXON Missense_K80R,Missense_K80R exm1232072 16 30006498 [A/G] NM_003609,NM_001197323 HIRIP3,HIRIP3 EXON Missense_T76I,Missense_T76I exm1232079 16 30006914 [T/C] NM_003609,NM_001197323 HIRIP3,HIRIP3 EXON Missense_K5E,Missense_K5E exm2224623 16 30007698 [A/G] NM_173618 INO80E EXON Missense_K23E exm1232086 16 30007713 [G/C] NM_173618 INO80E Silent exm1232099 16 30012264 [T/C] NM_173618 INO80E EXON Missense_P100L exm1232110 16 30012323 [T/C] NM_173618 INO80E EXON Missense_L120F exm1232120 16 30012840 [T/C] NM_173618 INO80E EXON Missense_R168W exm1232125 16 30016644 [A/C] NM_173618 INO80E EXON Missense_P206T exm1232140 16 30017566 [A/G] NM_003586 DOC2A EXON Missense_R382C exm1232145 16 30017620 [T/C] NM_003586 DOC2A EXON Missense_E364K exm1232149 16 30017748 [A/G] NM_003586 DOC2A EXON Missense_S348F exm2274831 16 30017927 [A/T] NM_003586 DOC2A EXON Missense_E317V exm1232155 16 30017942 [T/G] NM_003586 DOC2A EXON Missense_K312T exm1232174 16 30018529 [T/G] NM_003586 DOC2A EXON Missense_K207Q exm1232197 16 30020839 [T/C] NM_003586 DOC2A EXON Missense_R101Q exm1232214 16 30021413 [T/C] NM_003586 DOC2A EXON Missense_G44E exm1232216 16 30021455 [T/C] NM_003586 DOC2A EXON Missense_R30H exm1232223 16 30034990 [T/C] NM_001109660,NM_001109659 C16orf92,C16orf92 EXON Nonsense_R25X,Silent exm1232230 16 30035072 [A/C] NM_001109660,NM_001109659 C16orf92,C16orf92 EXON Missense_A52E,Missense_A30E exm1232231 16 30035096 [T/C] NM_001109660,NM_001109659 C16orf92,C16orf92 EXON Missense_P60L,Missense_P38L exm1232238 16 30035198 [T/C] NM_001109660,NM_001109659 C16orf92,C16orf92 EXON Missense_I94T,Missense_I72T exm1232274 16 30038042 [A/G] NM_031478 FAM57B EXON Missense_A111V exm2252550 16 30072530 [T/C] NM_000034 ALDOA Silent exm2224627 16 30078860 [A/G] NM_000034,NM_184043,NM_001127617,NM_001243177,NM_184041 ALDOA,ALDOA,ALDOA,ALDOA,ALDOA EXON Missense_D68N,Missense_D68N,Missense_D68N,Missense_D122N,Missense_D68N exm1232313 16 30080210 [T/G] NM_000034,NM_184043,NM_001127617,NM_001243177,NM_184041 ALDOA,ALDOA,ALDOA,ALDOA,ALDOA EXON Missense_V151L,Missense_V151L,Missense_V151L,Missense_V205L,Missense_V151L exm1232317 16 30080265 [A/G] NM_000034,NM_184043,NM_001127617,NM_001243177,NM_184041 ALDOA,ALDOA,ALDOA,ALDOA,ALDOA EXON Missense_N169S,Missense_N169S,Missense_N169S,Missense_N223S,Missense_N169S exm1232331 16 30080931 [T/C] NM_000034,NM_184043,NM_001127617,NM_001243177,NM_184041 ALDOA,ALDOA,ALDOA,ALDOA,ALDOA EXON Missense_H246Y,Missense_H246Y,Missense_H246Y,Missense_H300Y,Missense_H246Y exm1232333 16 30080955 [A/G] NM_000034,NM_184043,NM_001127617,NM_001243177,NM_184041 ALDOA,ALDOA,ALDOA,ALDOA,ALDOA EXON Missense_V254I,Missense_V254I,Missense_V254I,Missense_V308I,Missense_V254I exm1232337 16 30081151 [G/C] NM_000034,NM_184043,NM_001127617,NM_001243177,NM_184041 ALDOA,ALDOA,ALDOA,ALDOA,ALDOA EXON Missense_G267A,Missense_G267A,Missense_G267A,Missense_G321A,Missense_G267A exm1232352 16 30081477 [A/G] NM_000034,NM_184043,NM_001127617,NM_001243177,NM_184041 ALDOA,ALDOA,ALDOA,ALDOA,ALDOA EXON Missense_G347S,Missense_G347S,Missense_G347S,Missense_G401S,Missense_G347S exm1232360 16 30092631 [A/G] NM_002720 PPP4C EXON Synonymous_T50T exm1232418 16 30099890 [T/C] NM_004608 TBX6 EXON Missense_R272Q exm1232424 16 30100078 [T/C] NM_004608 TBX6 EXON Missense_G235D exm1232426 16 30100083 [G/C] NM_004608 TBX6 EXON Missense_W233C exm1232437 16 30100418 [A/C] NM_004608 TBX6 EXON Missense_R156L exm1232438 16 30100451 [A/G] NM_004608 TBX6 EXON Missense_P145L exm1232455 16 30104062 [T/G] NM_031477,NM_001145524 YPEL3,YPEL3 EXON Missense_N148T,Missense_N110T exm1232464 16 30106716 [A/C] NM_031477,NM_001145524 YPEL3,YPEL3 EXON Missense_V30L,Silent exm1232470 16 30116257 [A/G] NM_024307 GDPD3 EXON Missense_T298M exm1232471 16 30116302 [A/G] NM_024307 GDPD3 EXON Missense_S283L exm1232472 16 30116306 [T/C] NM_024307 GDPD3 EXON Missense_E282K exm1232473 16 30116330 [T/C] NM_024307 GDPD3 EXON Missense_V274M exm1232491 16 30123453 [A/G] NM_024307 GDPD3 EXON Synonymous_A191A exm1232495 16 30123511 [T/C] NM_024307 GDPD3 EXON Missense_N172S exm1232496 16 30123514 [T/C] NM_024307 GDPD3 EXON Missense_R171H exm2274832 16 30123523 [A/C] NM_024307 GDPD3 EXON Missense_R168L exm1232504 16 30123722 [A/G] NM_024307 GDPD3 EXON Missense_R130W exm1232507 16 30124016 [A/G] NM_024307 GDPD3 EXON Missense_S94L exm1232514 16 30124682 [A/G] NM_024307 GDPD3 EXON Missense_R40C exm1232517 16 30124765 [A/C] NM_024307 GDPD3 EXON Missense_L12R exm1232531 16 30128265 [T/C] NM_001109891,NM_002746,NM_001040056 MAPK3,MAPK3,MAPK3 EXON Missense_E279K,Missense_E323K,Missense_E323K exm1232559 16 30133233 [T/C] NM_001109891,NM_002746,NM_001040056 MAPK3,MAPK3,MAPK3 EXON Missense_I89V,Missense_I89V,Missense_I89V exm1232599 16 30198465 [A/G] NM_007074,NM_001193333 CORO1A,CORO1A EXON Missense_R186Q,Missense_R186Q exm1232606 16 30198715 [A/C] NM_007074,NM_001193333 CORO1A,CORO1A EXON Missense_P217T,Missense_P217T exm1232631 16 30199713 [A/C] NM_007074,NM_001193333 CORO1A,CORO1A EXON Missense_P366H,Missense_P366H exm1232665 16 30364712 [A/G] NM_006110,NM_001243646 CD2BP2,CD2BP2 EXON Missense_T262I,Missense_T262I exm1232671 16 30364805 [T/C] NM_006110,NM_001243646 CD2BP2,CD2BP2 EXON Missense_G231D,Missense_G231D exm1232685 16 30365112 [A/G] NM_006110,NM_001243646 CD2BP2,CD2BP2 EXON Missense_R129W,Missense_R129W exm1232693 16 30365335 [T/A] NM_006110,NM_001243646 CD2BP2,CD2BP2 EXON Missense_T88S,Missense_T88S exm1232701 16 30365622 [A/C] NM_006110,NM_001243646 CD2BP2,CD2BP2 EXON Missense_S34A,Missense_S34A exm1232720 16 30369434 [T/C] NM_015527 TBC1D10B EXON Missense_R753Q exm1232723 16 30369467 [A/C] NM_015527 TBC1D10B EXON Missense_R742L exm1232728 16 30369645 [T/C] NM_015527 TBC1D10B EXON Missense_V683I exm1232774 16 30380872 [G/C] NM_015527 TBC1D10B EXON Missense_E211D exm1232775 16 30380879 [A/G] NM_015527 TBC1D10B EXON Missense_A209V exm1232778 16 30381131 [A/G] NM_015527 TBC1D10B EXON Missense_A125V exm1232788 16 30387174 [A/G] NM_013292 MYLPF EXON Missense_G13S exm1232798 16 30387850 [T/C] NM_013292 MYLPF Silent exm1232801 16 30388013 [A/G] NM_013292 MYLPF EXON Missense_K117R exm1232810 16 30389757 [A/T] NM_052838,NM_001214906,NM_001214907 SEPT1,ZNF48,ZNF48 EXON Missense_X415R,Silent,Silent exm1232818 16 30390417 [T/C] NM_052838,NM_001214906,NM_001214907 SEPT1,ZNF48,ZNF48 EXON Missense_D330G,Silent,Silent exm1232823 16 30390818 [A/C] NM_052838,NM_001214906,NM_001214907 SEPT1,ZNF48,ZNF48 EXON Missense_V280G,Silent,Silent exm1232828 16 30392702 [T/C] NM_052838,NM_001214906,NM_001214907 SEPT1,ZNF48,ZNF48 EXON Missense_R180Q,Silent,Silent exm1232837 16 30393147 [A/C] NM_052838,NM_001214906,NM_001214907 SEPT1,ZNF48,ZNF48 EXON Missense_G127V,Silent,Silent exm1232839 16 30393165 [A/G] NM_052838,NM_001214906,NM_001214907 SEPT1,ZNF48,ZNF48 EXON Missense_V121A,Silent,Silent exm1232841 16 30393171 [T/C] NM_052838,NM_001214906,NM_001214907 SEPT1,ZNF48,ZNF48 EXON Missense_R119Q,Silent,Silent exm1232848 16 30393595 [T/C] NM_052838,NM_001214906,NM_001214907 SEPT1,ZNF48,ZNF48 Silent,Silent,Silent exm1232855 16 30393682 [T/C] NM_052838,NM_001214906,NM_001214907 SEPT1,ZNF48,ZNF48 EXON Missense_K50R,Silent,Silent exm1232861 16 30407177 [A/G] NM_001214906,NM_001214907,NM_001214909,NM_152652 ZNF48,ZNF48,ZNF48,ZNF48 EXON Missense_Q21R,Silent,Missense_Q21R,Missense_Q21R exm1232865 16 30408711 [A/G] NM_001214906,NM_001214907,NM_001214909,NM_152652 ZNF48,ZNF48,ZNF48,ZNF48 EXON Missense_D47G,Silent,Missense_D47G,Missense_D47G exm1232867 16 30408765 [T/C] NM_001214906,NM_001214907,NM_001214909,NM_152652 ZNF48,ZNF48,ZNF48,ZNF48 EXON Missense_A65V,Silent,Missense_A65V,Missense_A65V exm1232871 16 30408842 [T/C] NM_001214906,NM_001214907,NM_001214909,NM_152652 ZNF48,ZNF48,ZNF48,ZNF48 EXON Missense_R91W,Silent,Missense_R91W,Missense_R91W exm1232890 16 30409241 [A/G] NM_001214906,NM_001214907,NM_001214909,NM_152652 ZNF48,ZNF48,ZNF48,ZNF48 EXON Missense_I224V,Missense_I101V,Missense_I224V,Missense_I224V exm1232897 16 30409356 [T/C] NM_001214906,NM_001214907,NM_001214909,NM_152652 ZNF48,ZNF48,ZNF48,ZNF48 EXON Missense_T262M,Missense_T139M,Missense_T262M,Missense_T262M exm1232899 16 30409387 [A/C] NM_001214906,NM_001214907,NM_001214909,NM_152652 ZNF48,ZNF48,ZNF48,ZNF48 EXON Missense_D272E,Missense_D149E,Missense_D272E,Missense_D272E exm1232905 16 30409466 [C/G] NM_001214906,NM_001214907,NM_001214909,NM_152652 ZNF48,ZNF48,ZNF48,ZNF48 EXON Missense_G299R,Missense_G176R,Missense_G299R,Missense_G299R exm1232936 16 30410085 [A/G] NM_001214906,NM_001214907,NM_001214909,NM_152652 ZNF48,ZNF48,ZNF48,ZNF48 EXON Missense_R505Q,Missense_R382Q,Missense_R505Q,Missense_R505Q exm1232956 16 30419384 [G/C] NM_001142305,NM_016643 ZNF771,ZNF771 EXON Missense_E4Q,Missense_E4Q exm2274833 16 30435651 [A/C] NM_024096 DCTPP1 EXON Missense_R139L exm1233021 16 30456229 [T/G] NM_012248 SEPHS2 EXON Missense_K274Q exm1233022 16 30456244 [G/C] NM_012248 SEPHS2 EXON Missense_P269A exm1233023 16 30456267 [T/C] NM_012248 SEPHS2 EXON Missense_N261S exm1233029 16 30456400 [T/C] NM_012248 SEPHS2 EXON Missense_V217I exm1233030 16 30456534 [T/C] NM_012248 SEPHS2 EXON Missense_N172S exm1233065 16 30490515 [A/G] NM_002209,NM_001114380 ITGAL,ITGAL EXON Missense_R144H,Silent exm2252551 16 30490776 [A/G] NM_002209,NM_001114380 ITGAL,ITGAL EXON Synonymous_S190S,Silent exm1233073 16 30492823 [T/C] NM_002209,NM_001114380 ITGAL,ITGAL EXON Missense_R214W,Missense_R131W exm1233075 16 30492896 [A/G] NM_002209,NM_001114380 ITGAL,ITGAL EXON Missense_N238S,Missense_N155S exm1233103 16 30505572 [T/C] NM_002209,NM_001114380 ITGAL,ITGAL EXON Missense_S418L,Missense_S335L exm1233118 16 30507770 [A/C] NM_002209,NM_001114380 ITGAL,ITGAL EXON Missense_T572N,Missense_T489N exm1855351 16 30510489 [A/C] NM_002209,NM_001114380 ITGAL,ITGAL EXON Missense_K643Q,Missense_K560Q exm1233130 16 30510810 [A/G] NM_002209,NM_001114380 ITGAL,ITGAL EXON Synonymous_P715P,Synonymous_P632P exm1233135 16 30516565 [A/C] NM_002209,NM_001114380 ITGAL,ITGAL EXON Missense_Q746K,Silent exm1233136 16 30516569 [A/G] NM_002209,NM_001114380 ITGAL,ITGAL EXON Missense_G747D,Missense_G663D exm1233137 16 30518041 [C/G] NM_002209,NM_001114380 ITGAL,ITGAL EXON Missense_R791T,Missense_R707T exm1233143 16 30518143 [T/C] NM_002209,NM_001114380 ITGAL,ITGAL EXON Missense_P825L,Missense_P741L exm1855385 16 30530026 [A/G] NM_002209,NM_001114380 ITGAL,ITGAL EXON Missense_A1072T,Missense_A988T exm1233177 16 30531182 [T/C] NM_002209,NM_001114380 ITGAL,ITGAL EXON Missense_V1078A,Missense_V994A exm1233179 16 30531238 [A/G] NM_002209,NM_001114380 ITGAL,ITGAL EXON Missense_G1097S,Missense_G1013S exm1233183 16 30532930 [A/G] NM_002209,NM_001114380 ITGAL,ITGAL EXON Missense_G1153S,Missense_G1069S exm1233193 16 30535999 [A/C] NM_024671 ZNF768 EXON Missense_A488S exm1233217 16 30536737 [A/G] NM_024671 ZNF768 EXON Missense_L242F exm1233227 16 30536901 [T/C] NM_024671 ZNF768 EXON Missense_N187S exm1233228 16 30536914 [T/G] NM_024671 ZNF768 EXON Missense_K183Q exm1233229 16 30536916 [T/C] NM_024671 ZNF768 EXON Missense_E182G exm1233232 16 30536994 [A/G] NM_024671 ZNF768 EXON Missense_L156P exm1233238 16 30537150 [A/C] NM_024671 ZNF768 EXON Missense_S104I exm1233264 16 30544474 [T/C] NM_023931 ZNF747 Silent exm1233293 16 30566693 [T/C] NM_033410,NM_001172679 ZNF764,ZNF764 EXON Missense_R350H,Missense_R349H exm1233330 16 30567146 [T/C] NM_033410,NM_001172679 ZNF764,ZNF764 EXON Missense_G199D,Missense_G198D exm1233361 16 30567396 [T/C] NM_033410,NM_001172679 ZNF764,ZNF764 EXON Missense_E116K,Missense_E115K exm1233363 16 30567428 [T/C] NM_033410,NM_001172679 ZNF764,ZNF764 EXON Missense_D105G,Missense_D104G exm1233377 16 30569499 [A/G] NM_033410,NM_001172679 ZNF764,ZNF764 EXON Missense_A2V,Missense_A2V exm1233378 16 30569500 [T/C] NM_033410,NM_001172679 ZNF764,ZNF764 EXON Missense_A2T,Missense_A2T exm1233394 16 30581676 [A/C] NM_001024683,NM_145271 ZNF688,ZNF688 EXON Missense_S117I,Missense_S131I exm1233412 16 30583443 [T/C] NM_001024683,NM_145271 ZNF688,ZNF688 EXON Missense_G52R,Silent exm1233416 16 30583542 [T/C] NM_001024683,NM_145271 ZNF688,ZNF688 EXON Missense_G19S,Silent exm1233417 16 30583547 [A/G] NM_001024683,NM_145271 ZNF688,ZNF688 EXON Missense_P17L,Silent exm1233430 16 30594024 [A/G] NM_152458 ZNF785 EXON Missense_R359W exm1855445 16 30594056 [A/C] NM_152458 ZNF785 EXON Missense_G348V exm1233434 16 30594088 [G/C] NM_152458 ZNF785 EXON Missense_S337R exm1855446 16 30594109 [T/G] NM_152458 ZNF785 EXON Missense_H330Q exm1233467 16 30594521 [A/C] NM_152458 ZNF785 EXON Missense_V193G exm1233468 16 30594543 [A/G] NM_152458 ZNF785 EXON Missense_L186F exm1233471 16 30594744 [T/C] NM_152458 ZNF785 EXON Missense_E119K exm1233473 16 30594764 [A/C] NM_152458 ZNF785 EXON Missense_G112V exm1233493 16 30615733 [T/G] NR_073480,NR_073482,NM_138447,NR_073481 ZNF689,ZNF689,ZNF689,ZNF689 EXON Silent,Silent,Missense_T452K,Silent exm2252553 16 30615906 [T/C] NR_073480,NR_073482,NM_138447,NR_073481 ZNF689,ZNF689,ZNF689,ZNF689 EXON Silent,Silent,Synonymous_T394T,Silent exm1233541 16 30620882 [A/G] NR_073480,NR_073482,NM_138447,NR_073481 ZNF689,ZNF689,ZNF689,ZNF689 EXON Silent,Silent,Missense_P95S,Silent exm-rs7186852 16 30635659 [A/G] exm-rs7197475 16 30642867 [T/C] exm1233555 16 30663143 [G/C] NM_024031 PRR14 EXON Missense_R17P exm1233570 16 30664136 [A/G] NM_024031 PRR14 EXON Missense_R96Q exm1233586 16 30664419 [A/G] NM_024031 PRR14 EXON Missense_A167T exm2274834 16 30665561 [A/G] NM_024031 PRR14 EXON Missense_M187V exm1233598 16 30665604 [A/C] NM_024031 PRR14 EXON Missense_E201A exm1233600 16 30665624 [A/G] NM_024031 PRR14 EXON Missense_A208T exm1233605 16 30666042 [T/C] NM_024031 PRR14 EXON Missense_R251C exm1233612 16 30666129 [A/G] NM_024031 PRR14 EXON Missense_M280V exm1233625 16 30666358 [A/G] NM_024031 PRR14 EXON Missense_R356Q exm1233627 16 30666367 [T/C] NM_024031 PRR14 EXON Missense_P359L exm1233636 16 30666480 [A/G] NM_024031 PRR14 EXON Missense_T397A exm1233639 16 30666676 [A/G] NM_024031 PRR14 EXON Missense_G417S exm1233645 16 30666883 [T/C] NM_024031 PRR14 EXON Missense_L459F exm1233649 16 30667248 [A/C] NM_024031 PRR14 EXON Missense_P489H exm2272433 16 30672719 [T/C] exm1233699 16 30678695 [T/C] NM_001105079 FBRS EXON Missense_P124S exm1233709 16 30679907 [A/G] NM_001105079 FBRS EXON Missense_A181T exm1233735 16 30680655 [A/G] NM_001105079 FBRS EXON Missense_G358S exm1233777 16 30715386 [A/T] NM_006662 SRCAP EXON Missense_M19K exm1233779 16 30715397 [A/G] NM_006662 SRCAP EXON Missense_G23S exm2252555 16 30718509 [T/C] NM_006662 SRCAP EXON Synonymous_A104A exm1233802 16 30720835 [T/G] NM_006662 SRCAP EXON Missense_V212G exm1233806 16 30721000 [T/G] NM_006662 SRCAP EXON Missense_G267V exm1855607 16 30721023 [T/C] NM_006662 SRCAP EXON Missense_P275S exm1233824 16 30722102 [C/G] NM_006662 SRCAP EXON Missense_Q388E exm1233843 16 30723156 [A/T] NM_006662 SRCAP EXON Missense_D498V exm1233845 16 30723222 [A/G] NM_006662 SRCAP EXON Missense_S520N exm1233858 16 30723656 [T/G] NM_006662 SRCAP EXON Missense_V630G exm1233859 16 30723759 [A/G] NM_006662 SRCAP EXON Synonymous_K664K exm1855633 16 30727465 [T/C] NM_006662 SRCAP EXON Missense_R858C exm1233869 16 30727466 [A/G] NM_006662 SRCAP EXON Missense_R858H exm1233876 16 30727757 [T/C] NM_006662 SRCAP EXON Missense_T925I exm1233884 16 30731562 [A/G] NM_006662 SRCAP EXON Missense_R966Q exm1233903 16 30732510 [T/C] NM_006662 SRCAP EXON Missense_V1085A exm1233909 16 30732644 [T/C] NM_006662 SRCAP EXON Missense_P1130S exm1233926 16 30734045 [A/G] NM_006662 SRCAP EXON Missense_S1290G exm1855675 16 30735148 [T/C] NM_006662 SRCAP EXON Missense_S1468L exm1233968 16 30735348 [C/G] NM_006662 SRCAP EXON Missense_P1535A exm1855677 16 30735366 [A/G] NM_006662 SRCAP EXON Missense_V1541M exm1855682 16 30735598 [T/C] NM_006662 SRCAP EXON Missense_A1618V exm1855683 16 30735751 [T/C] NM_006662 SRCAP EXON Missense_P1669L exm1234003 16 30735951 [C/G] NM_006662 SRCAP EXON Missense_P1736A exm1234006 16 30736002 [G/C] NM_006662 SRCAP EXON Missense_P1753A exm1234011 16 30736045 [T/C] NM_006662 SRCAP EXON Missense_T1767M exm1234032 16 30740333 [A/G] NM_006662 SRCAP EXON Missense_E1902G exm1234080 16 30748482 [A/C] NM_006662 SRCAP EXON Missense_T2374N exm1855717 16 30748518 [A/G] NM_006662 SRCAP EXON Missense_K2386R exm1234095 16 30748845 [C/G] NM_006662 SRCAP EXON Missense_S2495C exm2224670 16 30749158 [A/C] NM_006662 SRCAP EXON Missense_N2599K exm1234106 16 30749214 [A/G] NM_006662 SRCAP EXON Missense_N2618S exm1234125 16 30749711 [A/C] NM_006662 SRCAP EXON Missense_T2784P exm1234128 16 30749724 [T/C] NM_006662 SRCAP EXON Missense_P2788L exm1234132 16 30749748 [T/C] NM_006662 SRCAP EXON Missense_M2796T exm1234144 16 30749861 [A/G] NM_006662 SRCAP EXON Missense_G2834R exm1855728 16 30749885 [A/G] NM_006662 SRCAP EXON Missense_E2842K exm1234150 16 30749979 [A/C] NM_006662 SRCAP EXON Missense_A2873D exm1234157 16 30750116 [T/C] NM_006662 SRCAP EXON Missense_L2919F exm1855733 16 30750212 [C/G] NM_006662 SRCAP EXON Missense_P2951A exm1234162 16 30750254 [T/C] NM_006662 SRCAP EXON Missense_R2965W exm1234163 16 30750272 [T/C] NM_006662 SRCAP EXON Missense_H2971Y exm1234167 16 30750338 [A/G] NM_006662 SRCAP EXON Missense_V2993I exm1234176 16 30750483 [A/G] NM_006662 SRCAP EXON Missense_R3041Q exm1234180 16 30750587 [A/G] NM_006662 SRCAP EXON Missense_M3076V exm1234191 16 30750848 [G/C] NM_006662 SRCAP EXON Missense_L3163V exm1234193 16 30750888 [A/C] NM_006662 SRCAP EXON Missense_A3176D exm1234208 16 30762458 [T/C] NM_001172432,NM_000294 PHKG2,PHKG2 EXON Missense_H43Y,Missense_H43Y exm1234216 16 30762558 [A/G] NM_001172432,NM_000294 PHKG2,PHKG2 EXON Missense_R76Q,Missense_R76Q exm1234219 16 30762587 [A/G] NM_001172432,NM_000294 PHKG2,PHKG2 EXON Missense_G86S,Missense_G86S exm1234229 16 30764715 [A/G] NM_001172432,NM_000294 PHKG2,PHKG2 EXON Synonymous_R131R,Synonymous_R131R exm1234251 16 30767822 [C/G] NM_001172432,NM_000294 PHKG2,PHKG2 EXON Missense_S261C,Missense_S261C exm1234254 16 30768029 [A/G] NM_001172432,NM_000294 PHKG2,PHKG2 EXON Missense_R307Q,Missense_R307Q exm1234292 16 30770541 [T/C] NM_001172432,NM_000294,NM_001014979 PHKG2,PHKG2,C16orf93 EXON Silent,Silent,Missense_M229V exm1234295 16 30770710 [T/C] NM_001172432,NM_000294,NM_001014979 PHKG2,PHKG2,C16orf93 EXON Silent,Silent,Missense_T204A exm1234296 16 30770719 [T/C] NM_001172432,NM_000294,NM_001014979 PHKG2,PHKG2,C16orf93 EXON Silent,Silent,Missense_V201M exm1234301 16 30770770 [A/C] NM_001172432,NM_000294,NM_001014979 PHKG2,PHKG2,C16orf93 EXON Silent,Silent,Missense_F184V exm1234307 16 30771021 [T/C] NM_001172432,NM_000294,NM_001014979 PHKG2,PHKG2,C16orf93 EXON Silent,Silent,Missense_E165G exm1234317 16 30771757 [A/G] NM_001172432,NM_000294,NM_001014979,NM_001195620 PHKG2,PHKG2,C16orf93,C16orf93 EXON Silent,Silent,Missense_L106P,Missense_L106P exm1234318 16 30771928 [C/G] NM_001172432,NM_000294,NM_001014979,NM_001195620 PHKG2,PHKG2,C16orf93,C16orf93 EXON Silent,Silent,Missense_E100Q,Missense_E100Q exm1234336 16 30772988 [T/C] NM_001014979,NM_001195620,NM_001207034,NM_001207033,NM_014771 C16orf93,C16orf93,RNF40,RNF40,RNF40 EXON Missense_A28T,Missense_A28T,Silent,Silent,Silent exm1234349 16 30774829 [T/C] NM_001207034,NM_001207033,NM_014771 RNF40,RNF40,RNF40 EXON Missense_P131S,Missense_P131S,Missense_P131S exm1855813 16 30775692 [A/G] NM_001207034,NM_001207033,NM_014771 RNF40,RNF40,RNF40 EXON Missense_R212Q,Missense_R212Q,Missense_R212Q exm1234367 16 30776511 [T/C] NM_001207034,NM_001207033,NM_014771 RNF40,RNF40,RNF40 EXON Missense_L261F,Missense_L261F,Missense_L261F exm1234384 16 30777740 [T/C] NM_001207034,NM_001207033,NM_014771 RNF40,RNF40,RNF40 EXON Silent,Missense_T385M,Missense_T385M exm1234399 16 30779309 [T/C] NM_001207034,NM_001207033,NM_014771 RNF40,RNF40,RNF40 EXON Synonymous_L408L,Synonymous_L508L,Synonymous_L508L exm2252556 16 30779309 [T/C] NM_001207034,NM_001207033,NM_014771 RNF40,RNF40,RNF40 EXON Synonymous_L408L,Synonymous_L508L,Synonymous_L508L exm1234404 16 30779502 [A/G] NM_001207034,NM_001207033,NM_014771 RNF40,RNF40,RNF40 EXON Missense_A444T,Missense_A544T,Missense_A544T exm1234405 16 30779503 [T/C] NM_001207034,NM_001207033,NM_014771 RNF40,RNF40,RNF40 EXON Missense_A444V,Missense_A544V,Missense_A544V exm1234407 16 30779547 [A/G] NM_001207034,NM_001207033,NM_014771 RNF40,RNF40,RNF40 EXON Missense_D459N,Missense_D559N,Missense_D559N exm1234411 16 30779650 [T/C] NM_001207034,NM_001207033,NM_014771 RNF40,RNF40,RNF40 EXON Missense_T493I,Missense_T593I,Missense_T593I exm1234415 16 30779716 [A/G] NM_001207034,NM_001207033,NM_014771 RNF40,RNF40,RNF40 EXON Missense_Q515R,Missense_Q615R,Missense_Q615R exm1234449 16 30783476 [A/G] NM_001207034,NM_001207033,NM_014771 RNF40,RNF40,RNF40 EXON Missense_D832N,Missense_D931N,Missense_D932N exm1234467 16 30793426 [C/G] NM_001080417 ZNF629 EXON Missense_S741R exm1234472 16 30793530 [C/G] NM_001080417 ZNF629 EXON Missense_P707A exm1234478 16 30793844 [T/C] NM_001080417 ZNF629 EXON Missense_G602D exm1234520 16 30795474 [T/A] NM_001080417 ZNF629 EXON Missense_T59S exm1234521 16 30795481 [G/C] NM_001080417 ZNF629 EXON Missense_K56N exm1234522 16 30795536 [T/C] NM_001080417 ZNF629 EXON Missense_E38G exm1234586 16 30910793 [A/G] NM_001330,NM_001142544 CTF1,CTF1 EXON Missense_R28H,Missense_R27H exm1234597 16 30936081 [A/G] NR_073401,NM_001271651,NM_001099784 FBXL19,FBXL19,FBXL19 EXON Silent,Missense_E10K,Missense_E10K exm1234621 16 30939801 [A/G] NR_073401,NM_001271651,NM_001099784 FBXL19,FBXL19,FBXL19 EXON Silent,Missense_R234Q,Missense_R234Q exm1234642 16 30941586 [A/G] NR_073401,NM_001271651,NM_001099784 FBXL19,FBXL19,FBXL19 EXON Silent,Missense_G305S,Missense_G348S exm-rs10782001 16 30942625 [A/G] NR_073401,NM_001271651,NM_001099784 FBXL19,FBXL19,FBXL19 Silent,Silent,Silent exm1234663 16 30958481 [A/G] NR_073401,NM_001271651,NM_001099784 FBXL19,FBXL19,FBXL19 EXON Silent,Missense_R629Q,Missense_R672Q exm1234685 16 30964680 [C/G] NM_152288 ORAI3 EXON Missense_V135L exm1234686 16 30964690 [T/C] NM_152288 ORAI3 EXON Missense_S138L exm1234689 16 30964713 [T/C] NM_152288 ORAI3 EXON Missense_Y146H exm1234701 16 30964933 [T/C] NM_152288 ORAI3 EXON Missense_P219L exm1234720 16 30970202 [T/C] NM_014712 SETD1A EXON Synonymous_N50N exm1234739 16 30974874 [T/C] NM_014712 SETD1A EXON Missense_T213M exm1234759 16 30975596 [T/C] NM_014712 SETD1A EXON Missense_T274M exm1234763 16 30976045 [A/G] NM_014712 SETD1A EXON Missense_A328T exm1234769 16 30976085 [T/C] NM_014712 SETD1A EXON Missense_S341F exm1234780 16 30976274 [A/G] NM_014712 SETD1A EXON Missense_R404H exm1234793 16 30976510 [A/G] NM_014712 SETD1A EXON Missense_A483T exm1234795 16 30976610 [A/G] NM_014712 SETD1A EXON Missense_N516S exm2252558 16 30976665 [A/G] NM_014712 SETD1A EXON Synonymous_S534S exm1234805 16 30976989 [T/C] NM_014712 SETD1A EXON Missense_P596L exm1234826 16 30977465 [A/G] NM_014712 SETD1A EXON Missense_A755T exm1234835 16 30977580 [A/G] NM_014712 SETD1A EXON Missense_R793H exm1855994 16 30978334 [A/G] NM_014712 SETD1A EXON Missense_A879T exm1234860 16 30980665 [T/C] NM_014712 SETD1A EXON Missense_P937L exm1234876 16 30980962 [C/G] NM_014712 SETD1A EXON Missense_R990G exm1234880 16 30982716 [T/G] NM_014712 SETD1A EXON Missense_D1012Y exm1234881 16 30982720 [T/C] NM_014712 SETD1A EXON Missense_S1013L exm1234917 16 30990654 [C/G] NM_014712 SETD1A EXON Missense_P1183A exm1234935 16 30990969 [T/C] NM_014712 SETD1A EXON Missense_R1288C exm1235009 16 30997074 [A/G] NM_001142777,NM_025193,NM_001142778 HSD3B7,HSD3B7,HSD3B7 EXON Missense_R32Q,Missense_R32Q,Missense_R32Q exm1235010 16 30997082 [G/C] NM_001142777,NM_025193,NM_001142778 HSD3B7,HSD3B7,HSD3B7 EXON Missense_R35G,Missense_R35G,Missense_R35G exm1856051 16 30997429 [A/G] NM_001142777,NM_025193,NM_001142778 HSD3B7,HSD3B7,HSD3B7 EXON Missense_A76T,Missense_A76T,Missense_A76T exm1235020 16 30997750 [A/G] NM_001142777,NM_025193,NM_001142778 HSD3B7,HSD3B7,HSD3B7 EXON Missense_R110Q,Missense_R110Q,Missense_R110Q exm1235041 16 30998237 [A/G] NM_001142777,NM_025193,NM_001142778 HSD3B7,HSD3B7,HSD3B7 EXON Silent,Missense_R203K,Silent exm1235043 16 30998266 [A/G] NM_001142777,NM_025193,NM_001142778 HSD3B7,HSD3B7,HSD3B7 EXON Silent,Missense_G213R,Silent exm1235048 16 30999108 [T/C] NM_001142777,NM_025193,NM_001142778 HSD3B7,HSD3B7,HSD3B7 EXON Missense_T184M,Synonymous_H238H,Missense_T184M exm1235050 16 30999142 [A/G] NM_001142777,NM_025193,NM_001142778 HSD3B7,HSD3B7,HSD3B7 EXON Synonymous_Q195Q,Missense_T250A,Synonymous_Q195Q exm1235055 16 30999250 [A/G] NM_001142777,NM_025193,NM_001142778 HSD3B7,HSD3B7,HSD3B7 EXON Silent,Missense_A286T,Silent exm1235062 16 30999434 [T/C] NM_001142777,NM_025193,NM_001142778 HSD3B7,HSD3B7,HSD3B7 EXON Silent,Missense_L347P,Silent exm1235067 16 30999484 [A/G] NM_001142777,NM_025193,NM_001142778 HSD3B7,HSD3B7,HSD3B7 EXON Silent,Missense_A364T,Silent exm1235069 16 30999491 [G/C] NM_001142777,NM_025193,NM_001142778 HSD3B7,HSD3B7,HSD3B7 EXON Silent,Missense_G366A,Silent exm1235096 16 31012480 [A/G] NM_052874 STX1B EXON Missense_S47L exm-rs10871454 16 31048079 [T/C] NM_001272096,NM_001272095,NM_004604 STX4,STX4,STX4 Silent,Silent,Silent exm1235129 16 31049298 [A/G] NM_001272096,NM_001272095,NM_004604 STX4,STX4,STX4 EXON Missense_M142V,Missense_M66V,Missense_M144V exm1235131 16 31049337 [T/C] NM_001272096,NM_001272095,NM_004604 STX4,STX4,STX4 EXON Missense_R155W,Missense_R79W,Missense_R157W exm1235139 16 31049855 [T/C] NM_001272096,NM_001272095,NM_004604 STX4,STX4,STX4 EXON Nonsense_R195X,Nonsense_R119X,Nonsense_R197X exm1235159 16 31072600 [T/C] NM_001172669,NM_001172670,NM_024706,NM_001172668 ZNF668,ZNF668,ZNF668,ZNF668 EXON Missense_G573D,Missense_G550D,Missense_G550D,Missense_G550D exm1856143 16 31072744 [G/C] NM_001172669,NM_001172670,NM_024706,NM_001172668 ZNF668,ZNF668,ZNF668,ZNF668 EXON Missense_G525A,Missense_G502A,Missense_G502A,Missense_G502A exm1235171 16 31072822 [A/C] NM_001172669,NM_001172670,NM_024706,NM_001172668 ZNF668,ZNF668,ZNF668,ZNF668 EXON Missense_V499G,Missense_V476G,Missense_V476G,Missense_V476G exm1235193 16 31073438 [T/C] NM_001172669,NM_001172670,NM_024706,NM_001172668 ZNF668,ZNF668,ZNF668,ZNF668 EXON Missense_E294K,Missense_E271K,Missense_E271K,Missense_E271K exm1235195 16 31073470 [T/C] NM_001172669,NM_001172670,NM_024706,NM_001172668 ZNF668,ZNF668,ZNF668,ZNF668 EXON Missense_G283D,Missense_G260D,Missense_G260D,Missense_G260D exm1235218 16 31075533 [A/G] NM_001172669,NM_001172670,NM_024706,NM_001172668 ZNF668,ZNF668,ZNF668,ZNF668 EXON Missense_P106L,Missense_P83L,Missense_P83L,Missense_P83L exm1235224 16 31075708 [C/G] NM_001172669,NM_001172670,NM_024706,NM_001172668 ZNF668,ZNF668,ZNF668,ZNF668 EXON Missense_V48L,Missense_V25L,Missense_V25L,Missense_V25L exm1235230 16 31075909 [T/C] NM_001172669,NM_001172670,NM_024706,NM_001172668 ZNF668,ZNF668,ZNF668,ZNF668 EXON Missense_D11N,Silent,Silent,Silent exm1856176 16 31087733 [T/C] NM_014699 ZNF646 EXON Missense_L30F exm1235245 16 31087938 [T/C] NM_014699 ZNF646 EXON Missense_A98V exm1235247 16 31087949 [T/C] NM_014699 ZNF646 EXON Missense_R102C exm1235248 16 31087950 [G/C] NM_014699 ZNF646 EXON Missense_R102P exm1235250 16 31087964 [A/C] NM_014699 ZNF646 EXON Missense_P107T exm1235261 16 31088120 [C/G] NM_014699 ZNF646 EXON Missense_A159P exm1235266 16 31088201 [A/G] NM_014699 ZNF646 EXON Missense_G186S exm1235270 16 31088333 [T/G] NM_014699 ZNF646 EXON Missense_S230A exm1235282 16 31088625 [A/G] NM_014699 ZNF646 EXON Missense_E327G exm1235290 16 31088878 [G/C] NM_014699 ZNF646 EXON Missense_F411L exm1235295 16 31088931 [A/G] NM_014699 ZNF646 EXON Missense_G429E exm1235307 16 31089200 [T/C] NM_014699 ZNF646 EXON Missense_R519C exm1235323 16 31089465 [T/C] NM_014699 ZNF646 EXON Missense_T607I exm1235324 16 31089476 [A/G] NM_014699 ZNF646 EXON Missense_M611V exm1235335 16 31089663 [A/G] NM_014699 ZNF646 EXON Missense_R673Q exm1235341 16 31089735 [A/G] NM_014699 ZNF646 EXON Missense_R697Q exm1235342 16 31089744 [A/G] NM_014699 ZNF646 EXON Missense_E700G exm1235343 16 31089831 [A/G] NM_014699 ZNF646 EXON Missense_C729Y exm1235354 16 31090120 [C/G] NM_014699 ZNF646 EXON Missense_D825E exm1235356 16 31090182 [T/G] NM_014699 ZNF646 EXON Missense_G846V exm1235361 16 31090269 [T/C] NM_014699 ZNF646 EXON Missense_A875V exm1235374 16 31090452 [T/C] NM_014699 ZNF646 EXON Missense_S936L exm1235383 16 31090645 [C/G] NM_014699 ZNF646 EXON Missense_M1000I exm1235399 16 31091076 [T/C] NM_014699 ZNF646 EXON Missense_P1144L exm1235413 16 31091390 [T/C] NM_014699 ZNF646 EXON Missense_R1249W exm1235421 16 31091504 [C/G] NM_014699 ZNF646 EXON Missense_G1287R exm1235423 16 31091525 [T/C] NM_014699 ZNF646 EXON Missense_R1294W exm1235431 16 31091658 [A/G] NM_014699 ZNF646 EXON Missense_R1338H exm1235433 16 31091699 [T/C] NM_014699 ZNF646 EXON Missense_R1352W exm1235435 16 31091708 [T/C] NM_014699 ZNF646 EXON Missense_R1355W exm1235437 16 31091727 [A/G] NM_014699 ZNF646 EXON Missense_R1361H exm1235439 16 31091744 [A/G] NM_014699 ZNF646 EXON Missense_A1367T exm1235440 16 31091757 [A/G] NM_014699 ZNF646 EXON Missense_R1371H exm1235451 16 31091965 [T/G] NM_014699 ZNF646 EXON Missense_S1440R exm1235453 16 31092011 [T/G] NM_014699 ZNF646 EXON Missense_S1456A exm1235454 16 31092042 [T/C] NM_014699 ZNF646 EXON Missense_P1466L exm2252559 16 31092043 [A/G] NM_014699 ZNF646 EXON Synonymous_P1466P exm1235457 16 31092075 [A/G] NM_014699 ZNF646 EXON Missense_G1477D exm1235459 16 31092144 [G/C] NM_014699 ZNF646 EXON Missense_A1500G exm1235461 16 31092186 [T/A] NM_014699 ZNF646 EXON Missense_D1514V exm1235463 16 31092205 [A/C] NM_014699 ZNF646 EXON Missense_D1520E exm1235465 16 31092312 [A/G] NM_014699 ZNF646 EXON Missense_R1556Q exm1235467 16 31092321 [A/G] NM_014699 ZNF646 EXON Missense_C1559Y exm1235469 16 31092364 [T/G] NM_014699 ZNF646 EXON Missense_K1573N exm1235474 16 31092536 [A/G] NM_014699 ZNF646 EXON Missense_D1631N exm1235478 16 31092636 [T/C] NM_014699 ZNF646 EXON Missense_A1664V exm1235481 16 31092645 [A/C] NM_014699 ZNF646 EXON Missense_S1667Y exm1235482 16 31092677 [T/C] NM_014699 ZNF646 EXON Missense_R1678C exm2252560 16 31092808 [T/C] NM_014699 ZNF646 EXON Synonymous_N1721N exm1235499 16 31092959 [T/C] NM_014699 ZNF646 EXON Missense_R1772C exm1235500 16 31092962 [T/C] NM_014699 ZNF646 EXON Nonsense_R1773X exm1235501 16 31093008 [T/C] NM_014699 ZNF646 EXON Missense_T1788M exm1235508 16 31095115 [T/C] NM_001039503 PRSS53 EXON Missense_C553Y exm1235517 16 31095499 [A/C] NM_001039503 PRSS53 EXON Missense_V528G exm1235538 16 31096164 [G/C] NM_001039503 PRSS53 EXON Missense_P406A exm2224701 16 31096461 [A/G] NM_001039503 PRSS53 EXON Missense_A335V exm1235552 16 31096489 [A/G] NM_001039503 PRSS53 EXON Missense_C326R exm1235553 16 31096495 [C/G] NM_001039503 PRSS53 EXON Missense_L324V exm1235556 16 31097314 [A/G] NM_001039503 PRSS53 EXON Missense_P285L exm1235561 16 31097402 [C/G] NM_001039503 PRSS53 EXON Missense_V256L exm1235562 16 31097426 [T/C] NM_001039503 PRSS53 EXON Missense_S248G exm1235572 16 31097770 [T/C] NM_001039503 PRSS53 EXON Missense_R184H exm1235581 16 31098020 [A/G] NM_001039503 PRSS53 EXON Missense_P148S exm1856256 16 31098107 [A/C] NM_001039503 PRSS53 EXON Missense_A119S exm1235587 16 31098143 [T/C] NM_001039503 PRSS53 EXON Missense_E107K exm1235590 16 31098888 [T/C] NM_001039503 PRSS53 EXON Nonsense_W71X exm1235593 16 31099000 [T/C] NM_001039503 PRSS53 EXON Missense_G34S exm1856270 16 31104713 [T/C] NM_206824,NM_024006 VKORC1,VKORC1 EXON Silent,Missense_H68R exm1235611 16 31104714 [A/G] NM_206824,NM_024006 VKORC1,VKORC1 EXON Silent,Missense_H68Y exm1235612 16 31104720 [T/C] NM_206824,NM_024006 VKORC1,VKORC1 EXON Silent,Missense_V66M exm2224702 16 31105888 [A/G] NM_206824,NM_024006 VKORC1,VKORC1 EXON Missense_F55L,Missense_F55L exm1235647 16 31121001 [T/C] NM_001122957,NM_005881,NM_001271926 BCKDK,BCKDK,BCKDK EXON Missense_A91V,Missense_A91V,Missense_A91V exm1235670 16 31122058 [T/C] NM_001122957,NM_005881,NM_001271926 BCKDK,BCKDK,BCKDK EXON Missense_I231T,Missense_I231T,Missense_I231T exm1235683 16 31123215 [A/G] NM_001122957,NM_005881,NM_001271926 BCKDK,BCKDK,BCKDK EXON Missense_A321T,Missense_A321T,Missense_A291T exm1235715 16 31138409 [A/G] NM_182958,NM_032188 KAT8,KAT8 EXON Synonymous_A172A,Synonymous_A172A exm2277094 16 31142255 [C/G] NM_182958,NM_032188 KAT8,KAT8 EXON Missense_W449S,Silent exm1235743 16 31142271 [A/G] NM_182958,NM_032188 KAT8,KAT8 EXON Missense_I454M,Silent exm1235766 16 31144174 [T/G] NM_002773 PRSS8 EXON Missense_H123N exm2224710 16 31150508 [A/G] NM_173502,NM_001258291,NM_001258290 PRSS36,PRSS36,PRSS36 EXON Missense_P840L,Missense_P737L,Missense_P835L exm1235793 16 31150559 [C/G] NM_173502,NM_001258291,NM_001258290 PRSS36,PRSS36,PRSS36 EXON Missense_T823S,Missense_T720S,Missense_T818S exm1235803 16 31150703 [A/G] NM_173502,NM_001258291,NM_001258290 PRSS36,PRSS36,PRSS36 EXON Missense_T775M,Missense_T672M,Missense_T770M exm1235804 16 31151622 [T/C] NM_173502,NM_001258291,NM_001258290 PRSS36,PRSS36,PRSS36 EXON Missense_R761K,Silent,Missense_R756K exm1235811 16 31151860 [A/G] NM_173502,NM_001258291,NM_001258290 PRSS36,PRSS36,PRSS36 EXON Missense_P707L,Silent,Missense_P702L exm1235827 16 31152818 [T/C] NM_173502,NM_001258291,NM_001258290 PRSS36,PRSS36,PRSS36 EXON Missense_V625I,Missense_V625I,Missense_V620I exm1235831 16 31152920 [A/G] NM_173502,NM_001258291,NM_001258290 PRSS36,PRSS36,PRSS36 EXON Missense_R591W,Missense_R591W,Missense_R586W exm1235834 16 31153094 [A/T] NM_173502,NM_001258291,NM_001258290 PRSS36,PRSS36,PRSS36 EXON Missense_D570V,Missense_D570V,Missense_D565V exm1235838 16 31153139 [T/C] NM_173502,NM_001258291,NM_001258290 PRSS36,PRSS36,PRSS36 EXON Missense_R555Q,Missense_R555Q,Missense_R550Q exm1235843 16 31153920 [T/C] NM_173502,NM_001258291,NM_001258290 PRSS36,PRSS36,PRSS36 EXON Missense_G468D,Missense_G468D,Missense_G468D exm1235853 16 31154231 [T/G] NM_173502,NM_001258291,NM_001258290 PRSS36,PRSS36,PRSS36 EXON Missense_A395E,Missense_A395E,Missense_A395E exm1235861 16 31154711 [A/G] NM_173502,NM_001258291,NM_001258290 PRSS36,PRSS36,PRSS36 EXON Missense_A351V,Missense_A351V,Missense_A351V exm1235872 16 31154920 [A/G] NM_173502,NM_001258291,NM_001258290 PRSS36,PRSS36,PRSS36 EXON Missense_I320T,Missense_I320T,Missense_I320T exm1235885 16 31155160 [T/G] NM_173502,NM_001258291,NM_001258290 PRSS36,PRSS36,PRSS36 Silent,Silent,Silent exm1235886 16 31157126 [T/C] NM_173502,NM_001258291,NM_001258290 PRSS36,PRSS36,PRSS36 EXON Missense_R235H,Missense_R235H,Missense_R235H exm1235888 16 31157223 [T/C] NM_173502,NM_001258291,NM_001258290 PRSS36,PRSS36,PRSS36 EXON Missense_E203K,Missense_E203K,Missense_E203K exm1235911 16 31160517 [T/C] NM_173502,NM_001258291,NM_001258290 PRSS36,PRSS36,PRSS36 EXON Missense_G50D,Missense_G50D,Missense_G50D exm1235934 16 31193842 [T/C] NM_001170634,NM_004960,NR_028388,NM_001170937 FUS,FUS,FUS,FUS EXON Missense_A16V,Missense_A16V,Silent,Missense_A16V exm1235943 16 31193983 [A/G] NM_001170634,NM_004960,NR_028388,NM_001170937 FUS,FUS,FUS,FUS EXON Missense_N63S,Missense_N63S,Silent,Missense_N63S exm1235960 16 31195598 [A/G] NM_001170634,NM_004960,NR_028388,NM_001170937 FUS,FUS,FUS,FUS EXON Missense_S134N,Missense_S135N,Silent,Missense_S135N exm1236014 16 31201719 [T/C] NM_001170634,NM_004960,NR_028388,NM_001170937 FUS,FUS,FUS,FUS EXON Missense_P430L,Missense_P431L,Silent,Missense_P427L exm1236025 16 31202343 [T/C] NM_001170634,NM_004960,NR_028388,NM_001170937 FUS,FUS,FUS,FUS EXON Missense_R484W,Missense_R485W,Silent,Missense_R481W exm1856460 16 31213045 [A/C] NM_145182,NM_013258 PYCARD,PYCARD EXON Missense_R131L,Missense_R150L exm1236063 16 31213903 [T/C] NM_145182,NM_013258 PYCARD,PYCARD EXON Missense_G37R,Missense_G37R exm1236081 16 31228347 [A/C] NM_001008274,NM_152901 TRIM72,PYDC1 EXON Silent,Missense_M1I exm1236090 16 31230617 [T/C] NM_001008274 TRIM72 EXON Missense_V165A exm1236096 16 31230715 [T/C] NM_001008274 TRIM72 EXON Missense_R198W exm1236108 16 31230812 [T/C] NM_001008274 TRIM72 EXON Missense_A230V exm1236110 16 31230816 [A/C] NM_001008274 TRIM72 EXON Missense_D231E exm1236125 16 31235517 [T/C] NM_001008274 TRIM72 EXON Missense_T292I exm1236151 16 31273118 [A/G] NM_000632,NM_001145808 ITGAM,ITGAM EXON Missense_R45K,Missense_R45K exm1236162 16 31276811 [A/G] NM_000632,NM_001145808 ITGAM,ITGAM EXON Missense_R77H,Missense_R77H exm1856506 16 31283198 [T/C] NM_000632,NM_001145808 ITGAM,ITGAM EXON Missense_R197W,Missense_R197W exm1236180 16 31284720 [A/G] NM_000632,NM_001145808 ITGAM,ITGAM EXON Missense_K247E,Missense_K247E exm1236187 16 31286900 [T/C] NM_000632,NM_001145808 ITGAM,ITGAM EXON Missense_R297C,Missense_R297C exm1236188 16 31286945 [A/G] NM_000632,NM_001145808 ITGAM,ITGAM EXON Missense_V312M,Missense_V312M exm1236197 16 31289317 [T/C] NM_000632,NM_001145808 ITGAM,ITGAM EXON Missense_R415W,Missense_R415W exm1236199 16 31289396 [T/C] NM_000632,NM_001145808 ITGAM,ITGAM EXON Missense_M441T,Missense_M441T exm2264610 16 31305593 [A/C] NM_000632,NM_001145808 ITGAM,ITGAM Silent,Silent exm1236214 16 31309073 [A/G] NM_000632,NM_001145808 ITGAM,ITGAM EXON Missense_R502Q,Missense_R503Q exm1236223 16 31309237 [A/G] NM_000632,NM_001145808 ITGAM,ITGAM EXON Missense_G557R,Missense_G558R exm-rs9888739 16 31313253 [T/C] NM_000632,NM_001145808 ITGAM,ITGAM Silent,Silent exm1236227 16 31332644 [A/G] NM_000632,NM_001145808 ITGAM,ITGAM EXON Missense_G597E,Missense_G598E exm-rs11150610 16 31334236 [A/C] NM_000632,NM_001145808 ITGAM,ITGAM Silent,Silent exm1236244 16 31335785 [A/G] NM_000632,NM_001145808 ITGAM,ITGAM EXON Missense_V690I,Missense_V691I exm1856548 16 31336706 [A/G] NM_000632,NM_001145808 ITGAM,ITGAM EXON Missense_R829Q,Missense_R830Q exm1856550 16 31336845 [T/C] NM_000632,NM_001145808 ITGAM,ITGAM EXON Missense_R844C,Missense_R845C exm1236263 16 31336888 [T/C] NM_000632,NM_001145808 ITGAM,ITGAM EXON Missense_A858V,Missense_A859V exm1236276 16 31340556 [T/G] NM_000632,NM_001145808 ITGAM,ITGAM EXON Missense_V934F,Missense_V935F exm1236277 16 31340609 [T/G] NM_000632,NM_001145808 ITGAM,ITGAM EXON Missense_M951I,Missense_M952I exm1236287 16 31341424 [A/C] NM_000632,NM_001145808 ITGAM,ITGAM EXON Missense_T1000N,Missense_T1001N exm1236288 16 31341430 [A/G] NM_000632,NM_001145808 ITGAM,ITGAM EXON Missense_E1002G,Missense_E1003G exm1856568 16 31341863 [G/C] NM_000632,NM_001145808 ITGAM,ITGAM EXON Missense_E1071D,Missense_E1072D exm1236299 16 31342970 [A/G] NM_000632,NM_001145808 ITGAM,ITGAM EXON Missense_K1134R,Missense_K1135R exm1236304 16 31366590 [C/G] NM_000887 ITGAX EXON Missense_R5S exm1236311 16 31367318 [T/C] NM_000887 ITGAX EXON Missense_W48R exm1856581 16 31367998 [A/C] NM_000887 ITGAX EXON Missense_L66I exm1236325 16 31368622 [A/G] NM_000887 ITGAX EXON Missense_T123A exm-rs11574637 16 31368874 [T/C] NM_000887 ITGAX Silent exm1236332 16 31371088 [A/C] NM_000887 ITGAX EXON Missense_N166K exm1236348 16 31371780 [T/C] NM_000887 ITGAX EXON Missense_I286T exm1236362 16 31373229 [T/C] NM_000887 ITGAX EXON Missense_P362L exm1236368 16 31373457 [T/C] NM_000887 ITGAX EXON Missense_P383L exm1236377 16 31374256 [A/C] NM_000887 ITGAX EXON Missense_I454L exm1236395 16 31374535 [G/C] NM_000887 ITGAX EXON Missense_P517R exm1236399 16 31374624 [A/G] NM_000887 ITGAX EXON Missense_E547K exm1236401 16 31374633 [T/C] NM_000887 ITGAX EXON Missense_R550W exm1236418 16 31382513 [T/C] NM_000887 ITGAX EXON Missense_R607W exm2224721 16 31382731 [T/C] NM_000887 ITGAX EXON Missense_R640W exm1856637 16 31382795 [A/G] NM_000887 ITGAX EXON Missense_R661H exm1236430 16 31382999 [A/G] NM_000887 ITGAX EXON Missense_R685H exm1236433 16 31383038 [A/G] NM_000887 ITGAX EXON Missense_R698Q exm2274836 16 31383103 [C/G] NM_000887 ITGAX EXON Missense_P720A exm1236455 16 31388135 [T/C] NM_000887 ITGAX EXON Missense_R842C exm1856661 16 31388355 [A/G] NM_000887 ITGAX EXON Missense_K887R exm1236467 16 31388400 [T/G] NM_000887 ITGAX EXON Missense_S902I exm1236472 16 31390954 [T/C] NM_000887 ITGAX EXON Missense_M952T exm1236481 16 31391356 [A/C] NM_000887 ITGAX EXON Missense_F1010L exm1236496 16 31391868 [A/G] NM_000887 ITGAX EXON Missense_V1067M exm1236497 16 31391887 [T/C] NM_000887 ITGAX EXON Missense_T1073M exm1236502 16 31392282 [T/C] NM_000887 ITGAX EXON Missense_I1114T exm1236503 16 31392309 [T/C] NM_000887 ITGAX EXON Missense_I1123T exm1236539 16 31409129 [A/C] NM_005353 ITGAD EXON Missense_T109N exm1856711 16 31409227 [T/C] NM_005353 ITGAD EXON Missense_P142S exm1236547 16 31413537 [A/G] NM_005353 ITGAD EXON Missense_M177V exm1236553 16 31414942 [T/C] NM_005353 ITGAD EXON Missense_T227M exm2224723 16 31418934 [A/G] NM_005353 ITGAD EXON Missense_Y268C exm1236563 16 31418975 [T/C] NM_005353 ITGAD EXON Missense_R282C exm1236567 16 31419136 [T/C] NM_005353 ITGAD EXON Missense_I303T exm1236602 16 31422517 [A/G] NM_005353 ITGAD EXON Missense_V493M exm1236609 16 31422686 [T/C] NM_005353 ITGAD EXON Missense_R519C exm1236618 16 31422759 [T/C] NM_005353 ITGAD EXON Missense_P543L exm1236647 16 31425891 [A/G] NM_005353 ITGAD EXON Missense_G706R exm2276441 16 31426259 [A/C] NM_005353 ITGAD EXON Missense_Q744K exm1236667 16 31429420 [T/C] NM_005353 ITGAD EXON Missense_R842C exm1236668 16 31429453 [A/G] NM_005353 ITGAD EXON Missense_E853K exm1236669 16 31429471 [T/C] NM_005353 ITGAD EXON Missense_R859C exm1236677 16 31429692 [T/G] NM_005353 ITGAD EXON Missense_S896I exm1236682 16 31429879 [T/C] NM_005353 ITGAD EXON Missense_I925T exm1236684 16 31434482 [A/C] NM_005353 ITGAD EXON Missense_K943T exm1236696 16 31434772 [T/C] NM_005353 ITGAD EXON Missense_P987S exm1236711 16 31435523 [A/G] NM_005353 ITGAD EXON Missense_Q1087R exm1236714 16 31435873 [T/C] NM_005353 ITGAD EXON Missense_A1116V exm1236719 16 31437352 [A/G] NM_005353 ITGAD EXON Missense_R1130H exm1236752 16 31447788 [A/G] NM_001136509 ZNF843 EXON Missense_P128L exm1236758 16 31448168 [T/C] NM_001136509 ZNF843 EXON Missense_M1I exm1236777 16 31471188 [T/C] NM_024742,NM_001105247 ARMC5,ARMC5 EXON Missense_S115P,Missense_S115P exm1236787 16 31473275 [A/G] NM_024742,NM_001105247 ARMC5,ARMC5 EXON Missense_I170V,Missense_I170V exm1236793 16 31473500 [A/G] NM_024742,NM_001105247 ARMC5,ARMC5 EXON Missense_Q211R,Missense_Q211R exm1236809 16 31473836 [C/G] NM_024742,NM_001105247 ARMC5,ARMC5 EXON Missense_G323A,Missense_G323A exm1236819 16 31474091 [A/G] NM_024742,NM_001105247 ARMC5,ARMC5 EXON Missense_Q408R,Missense_Q408R exm1236865 16 31476458 [T/C] NM_024742,NM_001105247 ARMC5,ARMC5 EXON Missense_A705V,Silent exm1236892 16 31477728 [A/G] NM_024742,NM_001105247 ARMC5,ARMC5 EXON Silent,Missense_A776T exm1236894 16 31477795 [G/C] NM_024742,NM_001105247 ARMC5,ARMC5 EXON Silent,Missense_G798A exm1236923 16 31485199 [G/C] NM_001042454,NM_001164719,NM_015927 TGFB1I1,TGFB1I1,TGFB1I1 EXON Missense_A76P,Missense_A59P,Missense_A59P exm1236930 16 31485534 [G/C] NM_001042454,NM_001164719,NM_015927 TGFB1I1,TGFB1I1,TGFB1I1 EXON Missense_Q129H,Missense_Q112H,Missense_Q112H exm2252562 16 31485764 [T/C] NM_001042454,NM_001164719,NM_015927 TGFB1I1,TGFB1I1,TGFB1I1 EXON Synonymous_R169R,Synonymous_R152R,Synonymous_R152R exm1236989 16 31497079 [A/G] NM_003041 SLC5A2 EXON Nonsense_W111X exm2252563 16 31497505 [T/C] NM_003041 SLC5A2 EXON Synonymous_S161S exm1237005 16 31497590 [A/G] NM_003041 SLC5A2 EXON Missense_V190M exm1237041 16 31500217 [A/G] NM_003041 SLC5A2 EXON Missense_I433V exm1237048 16 31500329 [T/C] NM_003041 SLC5A2 EXON Missense_V470A exm1237049 16 31500335 [T/C] NM_003041 SLC5A2 EXON Missense_V472A exm1237065 16 31500560 [A/C] NM_003041 SLC5A2 EXON Nonsense_C522X exm1237067 16 31500639 [A/G] NM_003041 SLC5A2 EXON Missense_A549T exm1237079 16 31501532 [T/G] NM_003041,NM_022744 SLC5A2,C16orf58 EXON Missense_E591D,Silent exm1237085 16 31501642 [T/C] NM_003041,NM_022744 SLC5A2,C16orf58 EXON Missense_P602L,Silent exm1237087 16 31501659 [T/C] NM_003041,NM_022744 SLC5A2,C16orf58 EXON Missense_R608C,Silent exm1237090 16 31501722 [A/G] NM_003041,NM_022744 SLC5A2,C16orf58 EXON Missense_T629A,Silent exm1237098 16 31501788 [G/C] NM_003041,NM_022744 SLC5A2,C16orf58 EXON Missense_R651G,Silent exm1237099 16 31501798 [A/G] NM_003041,NM_022744 SLC5A2,C16orf58 EXON Missense_N654S,Silent exm1237106 16 31502164 [T/C] NM_022744 C16orf58 EXON Missense_V467I exm1237107 16 31502173 [T/C] NM_022744 C16orf58 EXON Missense_E464K exm1237112 16 31503367 [G/C] NM_022744 C16orf58 EXON Missense_H424Q exm1237116 16 31503524 [A/G] NM_022744 C16orf58 EXON Missense_R409W exm1237118 16 31503529 [T/C] NM_022744 C16orf58 EXON Missense_R407Q exm1856956 16 31503631 [A/G] NM_022744 C16orf58 EXON Missense_A373V exm1237142 16 31504944 [T/C] NM_022744 C16orf58 EXON Missense_R313H exm1237143 16 31504956 [A/G] NM_022744 C16orf58 EXON Missense_T309I exm2252565 16 31505252 [T/C] NM_022744 C16orf58 EXON Synonymous_T236T exm1237166 16 31510730 [T/C] NM_022744 C16orf58 Silent exm1237194 16 31519547 [T/C] NM_022744 C16orf58 EXON Missense_V50I exm1237197 16 31519637 [T/C] NM_022744 C16orf58 EXON Missense_E20K exm1237200 16 31519676 [A/T] NM_022744 C16orf58 EXON Missense_L7M exm1237205 16 31539497 [G/C] NM_016633 AHSP EXON Missense_A13P exm1237206 16 31539509 [T/G] NM_016633 AHSP EXON Nonsense_E17X exm2272364 16 31737373 [T/C] NM_001130913 ZNF720 Silent exm1237231 16 31765105 [T/C] NM_001130913 ZNF720 EXON Missense_T82I exm1237233 16 31765220 [A/G] NM_001130913 ZNF720 EXON Synonymous_E120E exm2264598 16 31842848 [A/C] exm-rs12447780 16 31860399 [T/C] exm1237242 16 31885289 [T/C] NM_001265588,NM_003414,NR_049749 ZNF267,ZNF267,ZNF267 EXON Silent,Missense_M1T,Silent exm1237254 16 31925986 [T/C] NM_001265588,NM_003414,NR_049749 ZNF267,ZNF267,ZNF267 EXON Missense_F107S,Missense_F139S,Silent exm1237255 16 31926094 [T/A] NM_001265588,NM_003414,NR_049749 ZNF267,ZNF267,ZNF267 EXON Missense_L143H,Missense_L175H,Silent exm1237265 16 31926331 [T/A] NM_001265588,NM_003414,NR_049749 ZNF267,ZNF267,ZNF267 EXON Missense_L222H,Missense_L254H,Silent exm1237266 16 31926339 [A/G] NM_001265588,NM_003414,NR_049749 ZNF267,ZNF267,ZNF267 EXON Missense_M225V,Missense_M257V,Silent exm1237267 16 31926360 [A/G] NM_001265588,NM_003414,NR_049749 ZNF267,ZNF267,ZNF267 EXON Missense_E232K,Missense_E264K,Silent exm1237275 16 31926619 [A/G] NM_001265588,NM_003414,NR_049749 ZNF267,ZNF267,ZNF267 EXON Missense_C318Y,Missense_C350Y,Silent exm1237303 16 31927308 [A/G] NM_001265588,NM_003414,NR_049749 ZNF267,ZNF267,ZNF267 EXON Missense_A548T,Missense_A580T,Silent exm1237304 16 31927347 [C/G] NM_001265588,NM_003414,NR_049749 ZNF267,ZNF267,ZNF267 EXON Missense_V561L,Missense_V593L,Silent exm1237305 16 31927353 [T/C] NM_001265588,NM_003414,NR_049749 ZNF267,ZNF267,ZNF267 EXON Missense_R563W,Missense_R595W,Silent exm2224752 16 31927579 [A/G] NM_001265588,NM_003414,NR_049749 ZNF267,ZNF267,ZNF267 EXON Missense_N638S,Missense_N670S,Silent exm1857057 16 31927618 [C/G] NM_001265588,NM_003414,NR_049749 ZNF267,ZNF267,ZNF267 EXON Missense_T651S,Missense_T683S,Silent exm2264611 16 31937596 [A/C] exm2272368 16 34516075 [T/C] exm2272434 16 34548934 [T/C] exm1237468 16 46637547 [T/G] NM_024745 SHCBP1 EXON Missense_I373L exm1237469 16 46637916 [C/G] NM_024745 SHCBP1 EXON Missense_E355Q exm1237476 16 46638194 [A/G] NM_024745 SHCBP1 EXON Missense_S290L exm2224840 16 46652126 [A/C] NM_024745 SHCBP1 EXON Missense_Y88D exm1237501 16 46652188 [A/G] NM_024745 SHCBP1 EXON Missense_F67S exm1237503 16 46652209 [A/C] NM_024745 SHCBP1 EXON Missense_M60R exm1237504 16 46652227 [C/G] NM_024745 SHCBP1 EXON Missense_S54C exm1237506 16 46655210 [A/G] NM_024745 SHCBP1 EXON Missense_M21T exm1237508 16 46655228 [A/G] NM_024745 SHCBP1 EXON Missense_A15V exm1237509 16 46655234 [A/G] NM_024745 SHCBP1 EXON Missense_A13V exm2260546 16 46697098 [A/G] NM_018206 VPS35 Silent exm1237558 16 46708241 [T/C] NM_018206 VPS35 EXON Missense_K382R exm1237594 16 46723619 [T/C] NM_014321,NR_037620 ORC6,ORC6 EXON Missense_M1T,Silent exm1237615 16 46726420 [A/G] NM_014321,NR_037620 ORC6,ORC6 EXON Missense_I108V,Silent exm1237616 16 46726421 [T/C] NM_014321,NR_037620 ORC6,ORC6 EXON Missense_I108T,Silent exm1858710 16 46726438 [A/G] NM_014321,NR_037620 ORC6,ORC6 EXON Missense_A114T,Silent exm1237619 16 46727058 [A/C] NM_014321,NR_037620 ORC6,ORC6 EXON Missense_P138Q,Silent exm1237652 16 46743548 [T/G] NM_182493 MYLK3 EXON Missense_E768A exm1237660 16 46744687 [A/G] NM_182493 MYLK3 EXON Missense_S710F exm1237661 16 46744689 [A/C] NM_182493 MYLK3 EXON Missense_L709F exm1237669 16 46755060 [T/C] NM_182493 MYLK3 EXON Missense_I654V exm1858736 16 46755104 [A/G] NM_182493 MYLK3 EXON Missense_P639L exm1858739 16 46761264 [A/G] NM_182493 MYLK3 EXON Missense_R600W exm1237678 16 46761289 [A/G] NM_182493 MYLK3 EXON Synonymous_Y591Y exm1237695 16 46766141 [T/C] NM_182493 MYLK3 EXON Missense_E481K exm1237728 16 46771819 [T/C] NM_182493 MYLK3 EXON Missense_G269S exm1237758 16 46781795 [A/G] NM_182493 MYLK3 EXON Missense_A104V exm1237773 16 46782003 [T/C] NM_182493 MYLK3 EXON Missense_K35E exm1237790 16 46918635 [T/G] NM_133443 GPT2 EXON Missense_R3L exm1237805 16 46934678 [A/C] NM_133443,NM_001142466 GPT2,GPT2 EXON Missense_Q140K,Missense_Q40K exm1237809 16 46940828 [A/G] NM_133443,NM_001142466 GPT2,GPT2 EXON Missense_G173S,Missense_G73S exm1237831 16 46952603 [A/G] NM_133443,NM_001142466 GPT2,GPT2 EXON Missense_G324E,Missense_G224E exm1237840 16 46956314 [C/G] NM_133443,NM_001142466 GPT2,GPT2 EXON Missense_E400Q,Missense_E300Q exm1237846 16 46958352 [T/G] NM_133443,NM_001142466 GPT2,GPT2 EXON Missense_D422Y,Missense_D322Y exm1237851 16 46958442 [A/G] NM_133443,NM_001142466 GPT2,GPT2 EXON Missense_V452M,Missense_V352M exm1237860 16 46962905 [T/C] NM_133443,NM_001142466 GPT2,GPT2 EXON Missense_A523V,Missense_A423V exm1237865 16 46991017 [T/C] NM_005880 DNAJA2 EXON Missense_R388H exm1237879 16 46993041 [T/C] NM_005880 DNAJA2 EXON Synonymous_G307G exm1237926 16 47143494 [A/C] NM_018092,NM_001201477 NETO2,NETO2 EXON Missense_N261K,Missense_N254K exm1237941 16 47162475 [T/C] NM_018092,NM_001201477 NETO2,NETO2 EXON Missense_R81H,Missense_R81H exm1237953 16 47163263 [A/G] NM_018092,NM_001201477 NETO2,NETO2 EXON Missense_I35T,Missense_I35T exm1237978 16 47271876 [T/C] NM_030790 ITFG1 EXON Synonymous_T458T exm2252596 16 47276820 [T/G] NM_030790 ITFG1 Silent exm1237983 16 47294461 [T/C] NM_030790 ITFG1 EXON Missense_E406K exm1237994 16 47345262 [A/G] NM_030790 ITFG1 EXON Missense_V320A exm1237995 16 47345292 [T/C] NM_030790 ITFG1 EXON Missense_K310R exm1238008 16 47487971 [T/C] NM_030790 ITFG1 EXON Missense_K127R exm1238016 16 47488059 [T/C] NM_030790 ITFG1 EXON Missense_A98T exm1859011 16 47497874 [A/G] NM_000293,NM_001031835 PHKB,PHKB EXON Silent,Missense_V9I exm1238040 16 47533771 [A/G] NM_000293,NM_001031835 PHKB,PHKB EXON Missense_A91T,Missense_A84T exm1859034 16 47536987 [T/C] NM_000293,NM_001031835 PHKB,PHKB EXON Missense_R131C,Missense_R124C exm1238054 16 47545606 [A/G] NM_000293,NM_001031835 PHKB,PHKB EXON Missense_T146A,Missense_T139A exm1238056 16 47545640 [T/C] NM_000293,NM_001031835 PHKB,PHKB EXON Missense_T157I,Missense_T150I exm1859035 16 47545661 [A/G] NM_000293,NM_001031835 PHKB,PHKB EXON Missense_Y164C,Missense_Y157C exm1238061 16 47549473 [T/G] NM_000293,NM_001031835 PHKB,PHKB EXON Missense_M185I,Missense_M178I exm1238062 16 47549492 [A/G] NM_000293,NM_001031835 PHKB,PHKB EXON Missense_I192V,Missense_I185V exm1859051 16 47614222 [A/C] NM_000293,NM_001031835 PHKB,PHKB EXON Missense_K243Q,Missense_K236Q exm1238074 16 47621585 [T/G] NM_000293,NM_001031835 PHKB,PHKB EXON Missense_S261A,Missense_S254A exm1238090 16 47630365 [A/G] NM_000293,NM_001031835 PHKB,PHKB EXON Missense_R429Q,Missense_R422Q exm1238091 16 47630386 [A/G] NM_000293,NM_001031835 PHKB,PHKB EXON Missense_R436H,Missense_R429H exm1238095 16 47644760 [C/G] NM_000293,NM_001031835 PHKB,PHKB EXON Missense_D463H,Missense_D456H exm1238111 16 47675569 [A/C] NM_000293,NM_001031835 PHKB,PHKB EXON Missense_P525H,Missense_P518H exm1238112 16 47682466 [A/G] NM_000293,NM_001031835 PHKB,PHKB EXON Missense_N544S,Missense_N537S exm1859088 16 47683077 [A/C] NM_000293,NM_001031835 PHKB,PHKB EXON Missense_M587L,Missense_M580L exm1238131 16 47684830 [A/C] NM_000293,NM_001031835 PHKB,PHKB EXON Missense_Q657K,Missense_Q650K exm1238137 16 47694609 [A/G] NM_000293,NM_001031835 PHKB,PHKB EXON Missense_K692R,Missense_K685R exm1238147 16 47697593 [A/G] NM_000293,NM_001031835 PHKB,PHKB EXON Missense_V762I,Missense_V755I exm1238148 16 47697618 [A/G] NM_000293,NM_001031835 PHKB,PHKB EXON Missense_Y770C,Missense_Y763C exm1238149 16 47697635 [T/C] NM_000293,NM_001031835 PHKB,PHKB EXON Nonsense_Q776X,Nonsense_Q769X exm1238152 16 47699855 [T/C] NM_000293,NM_001031835 PHKB,PHKB EXON Silent,Missense_S773L exm1238158 16 47703157 [T/A] NM_000293,NM_001031835 PHKB,PHKB EXON Missense_E820V,Missense_E813V exm1238164 16 47703291 [C/G] NM_000293,NM_001031835 PHKB,PHKB EXON Missense_P865A,Missense_P858A exm1238165 16 47703327 [A/G] NM_000293,NM_001031835 PHKB,PHKB EXON Missense_G877R,Missense_G870R exm1238173 16 47727381 [T/C] NM_000293,NM_001031835 PHKB,PHKB EXON Missense_P953L,Missense_P946L exm1238177 16 47730322 [T/G] NM_000293,NM_001031835 PHKB,PHKB EXON Nonsense_E976X,Nonsense_E969X exm1238186 16 47732476 [T/C] NM_000293,NM_001031835 PHKB,PHKB EXON Missense_R1041W,Missense_R1034W exm2252598 16 47733211 [A/G] NM_000293,NM_001031835 PHKB,PHKB EXON Synonymous_A1072A,Synonymous_A1065A exm1238192 16 47733211 [A/G] NM_000293,NM_001031835 PHKB,PHKB EXON Synonymous_A1072A,Synonymous_A1065A exm1238213 16 48117713 [T/C] NM_033226 ABCC12 Silent exm1238235 16 48121912 [A/G] NM_033226 ABCC12 EXON Missense_I1187T exm1238237 16 48121966 [T/C] NM_033226 ABCC12 EXON Missense_R1169H exm1238238 16 48121987 [A/G] NM_033226 ABCC12 EXON Missense_S1162L exm1238240 16 48122456 [T/C] NM_033226 ABCC12 EXON Missense_G1159R exm1238242 16 48122489 [C/G] NM_033226 ABCC12 EXON Missense_Q1148E exm1238243 16 48122514 [C/G] NM_033226 ABCC12 EXON Missense_S1139R exm2276442 16 48122530 [C/G] NM_033226 ABCC12 EXON Missense_P1134R exm1238246 16 48122582 [A/G] NM_033226 ABCC12 EXON Missense_R1117C exm1238252 16 48125092 [C/G] NM_033226 ABCC12 EXON Missense_R1075P exm1238262 16 48130781 [T/C] NM_033226 ABCC12 EXON Nonsense_W1024X exm1238265 16 48134823 [T/C] NM_033226 ABCC12 EXON Missense_I1000V exm2224866 16 48138090 [A/C] NM_033226 ABCC12 EXON Missense_V955L exm1238292 16 48139124 [T/C] NM_033226 ABCC12 EXON Missense_V867I exm1238297 16 48139174 [A/G] NM_033226 ABCC12 EXON Missense_V850A exm1238299 16 48139232 [A/G] NM_033226 ABCC12 EXON Nonsense_Q831X exm1238306 16 48141315 [A/G] NM_033226 ABCC12 EXON Missense_T798I exm1238313 16 48145497 [T/C] NM_033226 ABCC12 EXON Missense_G734D exm1238316 16 48145704 [A/G] NM_033226 ABCC12 EXON Nonsense_R703X exm1238318 16 48145749 [A/C] NM_033226 ABCC12 EXON Missense_L688V exm1238321 16 48149369 [A/G] NM_033226 ABCC12 EXON Missense_T649M exm1238322 16 48149406 [A/C] NM_033226 ABCC12 EXON Missense_V637L exm1238324 16 48149412 [T/C] NM_033226 ABCC12 EXON Missense_A635T exm1238338 16 48151198 [A/T] NM_033226 ABCC12 EXON Missense_N587Y exm1238364 16 48162639 [T/C] NM_033226 ABCC12 EXON Missense_I416V exm1238365 16 48164764 [T/C] NM_033226 ABCC12 EXON Missense_I391V exm1238374 16 48167618 [A/G] NM_033226 ABCC12 EXON Missense_R370C exm1238378 16 48167657 [T/C] NM_033226 ABCC12 EXON Missense_A357T exm1238387 16 48172226 [A/G] NM_033226 ABCC12 EXON Nonsense_R298X exm1238399 16 48173169 [T/C] NM_033226 ABCC12 EXON Missense_I246V exm2252601 16 48174739 [T/G] NM_033226 ABCC12 EXON Synonymous_T172T exm1238409 16 48174765 [A/C] NM_033226 ABCC12 EXON Nonsense_G164X exm1238417 16 48175176 [A/G] NM_033226 ABCC12 EXON Missense_R122C exm1238419 16 48175235 [T/G] NM_033226 ABCC12 EXON Missense_A102E exm1238425 16 48177848 [T/G] NM_033226 ABCC12 EXON Missense_Y83S exm1238426 16 48177876 [T/C] NM_033226 ABCC12 EXON Missense_V74I exm-IND16-46735398 16 48177898 [I/D] NM_033226 ABCC12 EXON exm1238432 16 48177911 [A/G] NM_033226 ABCC12 EXON Missense_P62L exm1238442 16 48180260 [T/C] NM_033226 ABCC12 EXON Missense_D26N exm1238444 16 48180284 [A/G] NM_033226 ABCC12 EXON Missense_R18W exm1238447 16 48180311 [T/G] NM_033226 ABCC12 EXON Missense_I9L exm1859301 16 48201223 [T/C] NM_033151,NM_032583,NM_145186 ABCC11,ABCC11,ABCC11 EXON Missense_A1371T,Missense_A1371T,Missense_A1333T exm1238459 16 48201432 [T/C] NM_033151,NM_032583,NM_145186 ABCC11,ABCC11,ABCC11 EXON Missense_H1344R,Missense_H1344R,Missense_H1306R exm1238472 16 48204078 [A/T] NM_033151,NM_032583,NM_145186 ABCC11,ABCC11,ABCC11 EXON Missense_N1277Y,Missense_N1277Y,Silent exm1238473 16 48204084 [T/C] NM_033151,NM_032583,NM_145186 ABCC11,ABCC11,ABCC11 EXON Missense_G1275S,Missense_G1275S,Silent exm1238480 16 48204843 [A/T] NM_033151,NM_032583,NM_145186 ABCC11,ABCC11,ABCC11 EXON Missense_Q1245L,Missense_Q1245L,Missense_Q1245L exm1238483 16 48209178 [T/C] NM_033151,NM_032583,NM_145186 ABCC11,ABCC11,ABCC11 EXON Missense_G1230E,Missense_G1230E,Missense_G1230E exm1238489 16 48209298 [T/C] NM_033151,NM_032583,NM_145186 ABCC11,ABCC11,ABCC11 EXON Missense_R1190H,Missense_R1190H,Missense_R1190H exm1238493 16 48210877 [A/G] NM_033151,NM_032583,NM_145186 ABCC11,ABCC11,ABCC11 EXON Missense_R1166C,Missense_R1166C,Missense_R1166C exm1238498 16 48210904 [T/C] NM_033151,NM_032583,NM_145186 ABCC11,ABCC11,ABCC11 EXON Missense_V1157M,Missense_V1157M,Missense_V1157M exm1859322 16 48212531 [T/C] NM_033151,NM_032583,NM_145186 ABCC11,ABCC11,ABCC11 EXON Missense_E1109K,Missense_E1109K,Missense_E1109K exm1238520 16 48220951 [T/C] NM_033151,NM_032583,NM_145186 ABCC11,ABCC11,ABCC11 EXON Missense_R995Q,Missense_R995Q,Missense_R995Q exm1238523 16 48221137 [T/C] NM_033151,NM_032583,NM_145186 ABCC11,ABCC11,ABCC11 EXON Missense_M970V,Missense_M970V,Missense_M970V exm1859332 16 48221293 [A/G] NM_033151,NM_032583,NM_145186 ABCC11,ABCC11,ABCC11 EXON Missense_R918W,Missense_R918W,Missense_R918W exm1859333 16 48221319 [T/C] NM_033151,NM_032583,NM_145186 ABCC11,ABCC11,ABCC11 EXON Missense_S909N,Missense_S909N,Missense_S909N exm1859340 16 48226529 [T/C] NM_033151,NM_032583,NM_145186 ABCC11,ABCC11,ABCC11 EXON Missense_A870T,Missense_A870T,Missense_A870T exm1238543 16 48227839 [A/G] NM_033151,NM_032583,NM_145186 ABCC11,ABCC11,ABCC11 EXON Missense_T820M,Missense_T820M,Missense_T820M exm1238544 16 48227861 [T/C] NM_033151,NM_032583,NM_145186 ABCC11,ABCC11,ABCC11 EXON Missense_V813M,Missense_V813M,Missense_V813M exm1238556 16 48231954 [T/C] NM_033151,NM_032583,NM_145186 ABCC11,ABCC11,ABCC11 EXON Missense_I748V,Missense_I748V,Missense_I748V exm1238565 16 48232185 [T/C] NM_033151,NM_032583,NM_145186 ABCC11,ABCC11,ABCC11 EXON Missense_Y695C,Missense_Y695C,Missense_Y695C exm1238569 16 48234210 [T/C] NM_033151,NM_032583,NM_145186 ABCC11,ABCC11,ABCC11 EXON Missense_V687I,Missense_V687I,Missense_V687I exm1238587 16 48237138 [T/C] NM_033151,NM_032583,NM_145186 ABCC11,ABCC11,ABCC11 Silent,Silent,Silent exm1238602 16 48239429 [A/G] NM_033151,NM_032583,NM_145186 ABCC11,ABCC11,ABCC11 EXON Missense_S567L,Missense_S567L,Missense_S567L exm1238604 16 48239443 [T/G] NM_033151,NM_032583,NM_145186 ABCC11,ABCC11,ABCC11 EXON Missense_H562Q,Missense_H562Q,Missense_H562Q exm2224870 16 48242353 [A/G] NM_033151,NM_032583,NM_145186 ABCC11,ABCC11,ABCC11 EXON Missense_S555P,Missense_S555P,Missense_S555P exm1238611 16 48242379 [A/G] NM_033151,NM_032583,NM_145186 ABCC11,ABCC11,ABCC11 EXON Missense_T546M,Missense_T546M,Missense_T546M exm1238614 16 48244882 [T/C] NM_033151,NM_032583,NM_145186 ABCC11,ABCC11,ABCC11 EXON Missense_K529E,Missense_K529E,Missense_K529E exm1238615 16 48244885 [A/G] NM_033151,NM_032583,NM_145186 ABCC11,ABCC11,ABCC11 EXON Missense_H528Y,Missense_H528Y,Missense_H528Y exm1238616 16 48244904 [G/C] NM_033151,NM_032583,NM_145186 ABCC11,ABCC11,ABCC11 EXON Missense_N521K,Missense_N521K,Missense_N521K exm1238617 16 48244924 [T/C] NM_033151,NM_032583,NM_145186 ABCC11,ABCC11,ABCC11 EXON Missense_G515R,Missense_G515R,Missense_G515R exm1238626 16 48245020 [A/G] NM_033151,NM_032583,NM_145186 ABCC11,ABCC11,ABCC11 EXON Missense_W483R,Missense_W483R,Missense_W483R exm1238627 16 48245026 [A/T] NM_033151,NM_032583,NM_145186 ABCC11,ABCC11,ABCC11 EXON Missense_L481M,Missense_L481M,Missense_L481M exm1238633 16 48247391 [T/C] NM_033151,NM_032583,NM_145186 ABCC11,ABCC11,ABCC11 EXON Missense_G440D,Missense_G440D,Missense_G440D exm1238653 16 48250026 [T/G] NM_033151,NM_032583,NM_145186 ABCC11,ABCC11,ABCC11 EXON Missense_A317E,Missense_A317E,Missense_A317E exm1238661 16 48250144 [A/C] NM_033151,NM_032583,NM_145186 ABCC11,ABCC11,ABCC11 EXON Nonsense_G278X,Nonsense_G278X,Nonsense_G278X exm1238662 16 48250153 [A/C] NM_033151,NM_032583,NM_145186 ABCC11,ABCC11,ABCC11 EXON Missense_V275L,Missense_V275L,Missense_V275L exm2274837 16 48256582 [A/C] NM_033151,NM_032583,NM_145186 ABCC11,ABCC11,ABCC11 EXON Missense_R235L,Missense_R235L,Missense_R235L exm1238676 16 48256613 [A/T] NM_033151,NM_032583,NM_145186 ABCC11,ABCC11,ABCC11 EXON Missense_I225F,Missense_I225F,Missense_I225F exm1238680 16 48258198 [T/C] NM_033151,NM_032583,NM_145186 ABCC11,ABCC11,ABCC11 EXON Missense_G180R,Missense_G180R,Missense_G180R exm1238694 16 48261815 [T/C] NM_033151,NM_032583,NM_145186 ABCC11,ABCC11,ABCC11 EXON Nonsense_W99X,Nonsense_W99X,Nonsense_W99X exm1238710 16 48264360 [T/C] NM_033151,NM_032583,NM_145186 ABCC11,ABCC11,ABCC11 EXON Missense_R75H,Missense_R75H,Missense_R75H exm1238719 16 48264423 [G/C] NM_033151,NM_032583,NM_145186 ABCC11,ABCC11,ABCC11 EXON Missense_G54A,Missense_G54A,Missense_G54A exm1238723 16 48265769 [T/C] NM_033151,NM_032583,NM_145186 ABCC11,ABCC11,ABCC11 EXON Missense_D22N,Missense_D22N,Missense_D22N exm1238729 16 48265826 [T/C] NM_033151,NM_032583,NM_145186 ABCC11,ABCC11,ABCC11 EXON Missense_R3G,Missense_R3G,Missense_R3G exm1238750 16 48295486 [A/G] NR_039639,NM_031490 MIR548AE2,LONP2 EXON Silent,Missense_K292R exm1238753 16 48296746 [A/T] NR_039639,NM_031490 MIR548AE2,LONP2 EXON Silent,Missense_E315D exm1238755 16 48303930 [A/G] NR_039639,NM_031490 MIR548AE2,LONP2 EXON Silent,Missense_R329H exm1238773 16 48333635 [T/C] NR_039639,NM_031490 MIR548AE2,LONP2 EXON Silent,Nonsense_Q533X exm1238776 16 48333668 [T/C] NR_039639,NM_031490 MIR548AE2,LONP2 EXON Silent,Missense_P544S exm1238780 16 48337177 [T/G] NR_039639,NM_031490 MIR548AE2,LONP2 EXON Silent,Nonsense_E586X exm1238781 16 48337192 [T/C] NR_039639,NM_031490 MIR548AE2,LONP2 EXON Silent,Missense_R591C exm1238787 16 48368208 [A/C] NR_039639,NM_031490 MIR548AE2,LONP2 EXON Silent,Missense_P626Q exm2274838 16 48382140 [A/G] NR_039639,NM_031490 MIR548AE2,LONP2 EXON Silent,Missense_R759Q exm1238815 16 48385628 [A/G] NR_039639,NM_031490 MIR548AE2,LONP2 EXON Silent,Missense_S825N exm1238819 16 48395595 [T/G] NR_039639,NR_040677,NM_001006610,NM_003031 MIR548AE2,LOC100507577,SIAH1,SIAH1 EXON Silent,Silent,Missense_T280P,Missense_T249P exm1238836 16 48399330 [T/C] NR_039639,NM_001006610,NM_003031 MIR548AE2,SIAH1,SIAH1 EXON Silent,Missense_C20Y,Silent exm1238837 16 48399361 [C/G] NR_039639,NM_001006610,NM_003031 MIR548AE2,SIAH1,SIAH1 EXON Silent,Missense_L10V,Silent exm2252603 16 48544028 [A/C] exm1238846 16 48577065 [T/C] NM_153029 N4BP1 EXON Missense_R814Q exm1238861 16 48594710 [A/G] NM_153029 N4BP1 EXON Missense_T615M exm1238870 16 48594806 [G/C] NM_153029 N4BP1 EXON Missense_S583C exm1859507 16 48594908 [A/C] NM_153029 N4BP1 EXON Missense_C549F exm1238892 16 48595431 [T/C] NM_153029 N4BP1 EXON Missense_T375A exm1238904 16 48595895 [T/G] NM_153029 N4BP1 EXON Missense_A220D exm1238912 16 48596268 [T/C] NM_153029 N4BP1 EXON Missense_S96G exm2264614 16 49172572 [A/C] exm1859649 16 49314916 [A/C] NM_004352 CBLN1 EXON Missense_R101L exm1238952 16 49407930 [A/G] NM_144602 C16orf78 EXON Missense_R27H exm1238964 16 49412420 [T/C] NM_144602 C16orf78 EXON Nonsense_R104X exm1238965 16 49412421 [A/G] NM_144602 C16orf78 EXON Missense_R104Q exm1238967 16 49412454 [A/G] NM_144602 C16orf78 EXON Missense_H115R exm1238975 16 49430391 [A/G] NM_144602 C16orf78 EXON Missense_R151H exm1238977 16 49430394 [A/G] NM_144602 C16orf78 EXON Missense_R152Q exm1238981 16 49430464 [A/C] NM_144602 C16orf78 EXON Missense_R175S exm1238984 16 49430519 [A/G] NM_144602 C16orf78 EXON Missense_M194V exm1238987 16 49430534 [A/G] NM_144602 C16orf78 EXON Missense_E199K exm2267941 16 49520603 [A/G] exm1238994 16 49525190 [T/G] NM_001271620,NM_015069 ZNF423,ZNF423 EXON Missense_Q1224P,Missense_Q1284P exm1239020 16 49669726 [T/C] NM_001271620,NM_015069 ZNF423,ZNF423 EXON Missense_A1053T,Missense_A1113T exm1239026 16 49669783 [T/C] NM_001271620,NM_015069 ZNF423,ZNF423 EXON Missense_G1034S,Missense_G1094S exm1239035 16 49669861 [T/G] NM_001271620,NM_015069 ZNF423,ZNF423 EXON Missense_L1008M,Missense_L1068M exm1239049 16 49670010 [A/G] NM_001271620,NM_015069 ZNF423,ZNF423 EXON Missense_T958M,Missense_T1018M exm1239060 16 49670211 [A/G] NM_001271620,NM_015069 ZNF423,ZNF423 EXON Missense_T891M,Missense_T951M exm1239070 16 49670325 [A/G] NM_001271620,NM_015069 ZNF423,ZNF423 EXON Missense_P853L,Missense_P913L exm1239093 16 49670556 [A/G] NM_001271620,NM_015069 ZNF423,ZNF423 EXON Missense_A776V,Missense_A836V exm1239103 16 49670811 [T/C] NM_001271620,NM_015069 ZNF423,ZNF423 EXON Missense_R691H,Missense_R751H exm1239117 16 49671081 [T/G] NM_001271620,NM_015069 ZNF423,ZNF423 EXON Missense_K601T,Missense_K661T exm1239123 16 49671177 [T/C] NM_001271620,NM_015069 ZNF423,ZNF423 EXON Missense_N569S,Missense_N629S exm1239129 16 49671213 [T/C] NM_001271620,NM_015069 ZNF423,ZNF423 EXON Missense_R557Q,Missense_R617Q exm1239136 16 49671432 [A/C] NM_001271620,NM_015069 ZNF423,ZNF423 EXON Missense_G484V,Missense_G544V exm2252607 16 49671518 [A/G] NM_001271620,NM_015069 ZNF423,ZNF423 EXON Synonymous_N455N,Synonymous_N515N exm1859860 16 49671526 [T/C] NM_001271620,NM_015069 ZNF423,ZNF423 EXON Missense_G453S,Missense_G513S exm1239147 16 49671685 [T/C] NM_001271620,NM_015069 ZNF423,ZNF423 EXON Missense_V400I,Missense_V460I exm1239161 16 49671894 [A/G] NM_001271620,NM_015069 ZNF423,ZNF423 EXON Missense_P330L,Missense_P390L exm1239164 16 49671955 [T/C] NM_001271620,NM_015069 ZNF423,ZNF423 EXON Missense_A310T,Missense_A370T exm1239168 16 49672027 [A/G] NM_001271620,NM_015069 ZNF423,ZNF423 EXON Missense_R286W,Missense_R346W exm1239193 16 49672770 [C/G] NM_001271620,NM_015069 ZNF423,ZNF423 EXON Missense_P38R,Missense_P98R exm-rs17281813 16 49750790 [T/C] NM_001271620,NM_015069 ZNF423,ZNF423 Silent,Silent exm1239199 16 49764711 [A/G] NM_001271620,NM_015069 ZNF423,ZNF423 EXON Missense_T23M,Missense_T83M exm2272375 16 49790777 [T/G] NM_001271620,NM_015069 ZNF423,ZNF423 Silent,Silent exm2252608 16 49927513 [A/G] exm1239223 16 50059580 [T/C] NM_153261 CNEP1R1 EXON Missense_L15P exm2273535 16 50069772 [A/G] NM_153261 CNEP1R1 EXON Silent exm1239238 16 50100302 [A/C] NM_182922 HEATR3 EXON Missense_R55S exm1239252 16 50106602 [A/G] NM_182922 HEATR3 EXON Missense_N200S exm1239254 16 50106616 [A/G] NM_182922 HEATR3 EXON Missense_I205V exm1239264 16 50112761 [C/G] NM_182922 HEATR3 EXON Missense_M291I exm1239271 16 50112929 [A/G] NM_182922 HEATR3 EXON Synonymous_P347P exm1239275 16 50117933 [A/G] NM_182922 HEATR3 EXON Missense_N376S exm1239278 16 50118063 [C/G] NM_182922 HEATR3 EXON Missense_W384S exm1239281 16 50118125 [A/G] NM_182922 HEATR3 EXON Missense_G405R exm1239299 16 50128648 [A/G] NM_182922 HEATR3 EXON Missense_I515V exm1239303 16 50134193 [G/C] NM_182922 HEATR3 EXON Missense_S551T exm1239310 16 50136320 [G/C] NM_182922 HEATR3 EXON Missense_E632Q exm1239313 16 50138853 [A/C] NM_182922 HEATR3 EXON Missense_R642S exm1239320 16 50138943 [A/G] NM_182922 HEATR3 EXON Missense_E672K exm1239367 16 50263152 [A/T] NM_001040284,NM_001040285 PAPD5,PAPD5 EXON Missense_Q670H,Missense_Q623H exm1239373 16 50322149 [T/C] NM_001114 ADCY7 EXON Missense_A20V exm1239374 16 50322200 [T/C] NM_001114 ADCY7 EXON Missense_T37M exm1239377 16 50324410 [A/G] NM_001114 ADCY7 EXON Missense_V72M exm1239384 16 50324468 [A/G] NM_001114 ADCY7 EXON Missense_R91H exm1239388 16 50324504 [A/G] NM_001114 ADCY7 EXON Missense_C103Y exm1239389 16 50324510 [T/C] NM_001114 ADCY7 EXON Missense_V105A exm1239397 16 50324561 [T/C] NM_001114 ADCY7 EXON Missense_A122V exm1239400 16 50325653 [T/A] NM_001114 ADCY7 EXON Missense_F128I exm1239407 16 50325710 [A/G] NM_001114 ADCY7 EXON Missense_A147T exm1239419 16 50326666 [A/G] NM_001114 ADCY7 EXON Missense_R206Q exm1239443 16 50332900 [A/G] NM_001114 ADCY7 EXON Missense_R345Q exm1239445 16 50332912 [A/T] NM_001114 ADCY7 EXON Missense_K349M exm2224896 16 50335024 [A/C] NM_001114 ADCY7 EXON Missense_H423N exm1239455 16 50335074 [A/C] NM_001114 ADCY7 EXON Missense_D439E exm1239464 16 50338325 [A/G] NM_001114 ADCY7 EXON Missense_A475T exm1239475 16 50338448 [A/G] NM_001114 ADCY7 EXON Missense_G516R exm1239476 16 50338839 [A/G] NM_001114 ADCY7 EXON Missense_V522I exm1239501 16 50340989 [A/G] NM_001114 ADCY7 EXON Missense_R594H exm1239509 16 50342240 [T/C] NM_001114 ADCY7 EXON Missense_T618M exm2252609 16 50342658 [T/C] NM_001114 ADCY7 EXON Synonymous_A672A exm1860022 16 50342686 [T/G] NM_001114 ADCY7 EXON Missense_V682L exm1239523 16 50343540 [G/C] NM_001114 ADCY7 EXON Missense_L715V exm1239534 16 50344725 [T/C] NM_001114 ADCY7 EXON Missense_P763L exm1239537 16 50345641 [A/G] NM_001114 ADCY7 EXON Missense_M798V exm1860070 16 50347917 [A/G] NM_001114 ADCY7 EXON Missense_G934S exm1239571 16 50348228 [T/G] NM_001114 ADCY7 EXON Missense_I961S exm1239578 16 50348314 [A/G] NM_001114 ADCY7 EXON Missense_V990I exm1860083 16 50349289 [T/C] NM_001114 ADCY7 EXON Missense_T1039I exm1239589 16 50349306 [A/G] NM_001114 ADCY7 EXON Missense_G1045R exm1239605 16 50353905 [T/C] NM_013263,NM_001173984 BRD7,BRD7 EXON Missense_Q598R,Missense_Q599R exm2252610 16 50354229 [T/C] NM_013263,NM_001173984 BRD7,BRD7 EXON Synonymous_E562E,Synonymous_E563E exm1239615 16 50354300 [T/C] NM_013263,NM_001173984 BRD7,BRD7 EXON Missense_A539T,Missense_A540T exm1239619 16 50354660 [T/C] NM_013263,NM_001173984 BRD7,BRD7 EXON Missense_R509H,Missense_R510H exm1239626 16 50357569 [T/C] NM_013263,NM_001173984 BRD7,BRD7 EXON Missense_V458I,Missense_V458I exm1239643 16 50368638 [T/C] NM_013263,NM_001173984 BRD7,BRD7 EXON Missense_S291G,Missense_S291G exm-IND16-48926178 16 50368678 [I/D] NM_013263,NM_001173984 BRD7,BRD7 EXON exm1239665 16 50384068 [T/C] NM_013263,NM_001173984 BRD7,BRD7 EXON Missense_S153G,Missense_S153G exm1239671 16 50388719 [A/T] NM_013263,NM_001173984 BRD7,BRD7 EXON Missense_L125I,Missense_L125I exm2274840 16 50583441 [T/C] NM_033119 NKD1 EXON Missense_A56V exm1239708 16 50642262 [T/C] NM_033119 NKD1 EXON Missense_R84W exm1239717 16 50659417 [A/G] NM_033119 NKD1 EXON Missense_M130V exm1239718 16 50659433 [A/G] NM_033119 NKD1 EXON Missense_R135Q exm2267888 16 50660962 [A/G] NM_033119 NKD1 Silent exm2224906 16 50664168 [G/C] NM_033119 NKD1 EXON Missense_S178R exm1239720 16 50664193 [A/G] NM_033119 NKD1 EXON Missense_V187M exm1239721 16 50664197 [T/C] NM_033119 NKD1 EXON Missense_A188V exm1239724 16 50664776 [T/C] NM_033119 NKD1 EXON Missense_T217I exm1239726 16 50664815 [T/C] NM_033119 NKD1 EXON Missense_P230L exm1239770 16 50703016 [T/C] NM_001144972,NM_153337 SNX20,SNX20 EXON Silent,Missense_R109H exm2260552 16 50703698 [A/C] NM_001144972,NM_153337 SNX20,SNX20 Silent,Silent exm1239798 16 50709746 [A/G] NM_001144972,NM_153337,NM_182854 SNX20,SNX20,SNX20 EXON Missense_H73Y,Missense_H73Y,Missense_H73Y exm1239806 16 50711334 [A/G] NM_001144972,NM_153337,NM_182854 SNX20,SNX20,SNX20 EXON Missense_P35L,Missense_P35L,Missense_P35L exm1239807 16 50711355 [T/G] NM_001144972,NM_153337,NM_182854 SNX20,SNX20,SNX20 EXON Missense_P28Q,Missense_P28Q,Missense_P28Q exm1239809 16 50711366 [A/C] NM_001144972,NM_153337,NM_182854 SNX20,SNX20,SNX20 EXON Missense_Q24H,Missense_Q24H,Missense_Q24H exm1239817 16 50731225 [T/C] NM_022162 NOD2 EXON Missense_P24L exm2276444 16 50733599 [A/G] NM_022162 NOD2 EXON Missense_V92I exm1239844 16 50733738 [A/G] NM_022162 NOD2 EXON Missense_R138Q exm1239846 16 50733785 [A/G] NM_022162 NOD2 EXON Missense_D154N exm1239847 16 50733789 [A/T] NM_022162 NOD2 EXON Missense_L155Q exm1239849 16 50733794 [T/C] NM_022162 NOD2 EXON Missense_W157R exm1239851 16 50733809 [A/G] NM_022162 NOD2 EXON Missense_V162I exm-rs17221417 16 50739582 [G/C] NM_022162 NOD2 Silent exm1239859 16 50741791 [T/C] NM_022162 NOD2 EXON Missense_T189M exm1239861 16 50741800 [T/C] NM_022162 NOD2 EXON Missense_A192V exm1239864 16 50741850 [T/C] NM_022162 NOD2 EXON Missense_P209S exm1239871 16 50744565 [T/G] NM_022162 NOD2 EXON Missense_L248R exm1239874 16 50744624 [T/C] NM_022162 NOD2 EXON Missense_P268S exm1239878 16 50744688 [A/G] NM_022162 NOD2 EXON Missense_N289S exm1239879 16 50744697 [T/C] NM_022162 NOD2 EXON Missense_A292V exm1239884 16 50744753 [T/C] NM_022162 NOD2 EXON Missense_R311W exm1860286 16 50744772 [T/C] NM_022162 NOD2 EXON Missense_A317V exm1239887 16 50744877 [A/G] NM_022162 NOD2 EXON Missense_H352R exm1239888 16 50744892 [A/C] NM_022162 NOD2 EXON Missense_D357A exm1239890 16 50744939 [T/C] NM_022162 NOD2 EXON Missense_R373C exm1239894 16 50745012 [T/C] NM_022162 NOD2 EXON Missense_P397L exm1239902 16 50745117 [T/C] NM_022162 NOD2 EXON Missense_A432V exm1239906 16 50745143 [A/G] NM_022162 NOD2 EXON Missense_E441K exm1239911 16 50745233 [T/C] NM_022162 NOD2 EXON Missense_R471C exm1239925 16 50745596 [A/G] NM_022162 NOD2 EXON Missense_V592M exm1239939 16 50745801 [G/C] NM_022162 NOD2 EXON Missense_A660G exm1239945 16 50745873 [A/G] NM_022162 NOD2 EXON Missense_R684Q exm1239948 16 50745926 [T/C] NM_022162 NOD2 EXON Missense_R702W exm1239953 16 50745960 [A/G] NM_022162 NOD2 EXON Missense_R713H exm1239955 16 50745990 [T/C] NM_022162 NOD2 EXON Missense_P723L exm1239961 16 50746052 [T/C] NM_022162 NOD2 EXON Missense_R744W exm1239972 16 50746191 [A/G] NM_022162 NOD2 EXON Missense_R790Q exm1239974 16 50746194 [A/G] NM_022162 NOD2 EXON Missense_R791Q exm1239976 16 50746199 [A/G] NM_022162 NOD2 EXON Missense_V793M exm1239982 16 50750505 [A/G] NM_022162 NOD2 EXON Missense_D824N exm1239985 16 50750562 [A/G] NM_022162 NOD2 EXON Missense_E843K exm1239990 16 50750842 [A/G] NM_022162 NOD2 EXON Missense_M863V exm1239998 16 50753909 [A/C] NM_022162 NOD2 EXON Missense_Q902K exm1239999 16 50756540 [G/C] NM_022162 NOD2 EXON Missense_G908R exm1240002 16 50756571 [A/C] NM_022162 NOD2 EXON Missense_A918D exm-rs5743289 16 50756774 [T/C] NM_022162 NOD2 Silent exm-rs2076756 16 50756881 [A/G] NM_022162 NOD2 Silent exm1240010 16 50757276 [A/G] NM_022162 NOD2 EXON Missense_V955I exm-rs2066847 16 50763778 [D/I] NM_022162 NOD2 EXON exm-IND16-49321279 16 50763779 [D/I] NM_022162 NOD2 EXON exm1240024 16 50765701 [A/G] NM_022162 NOD2 EXON Missense_G1032S exm1240040 16 50785524 [T/C] NM_015247,NM_001042355,NM_001042412 CYLD,CYLD,CYLD EXON Missense_R172C,Missense_R172C,Missense_R172C exm1860361 16 50810099 [T/C] NM_015247,NM_001042355,NM_001042412 CYLD,CYLD,CYLD EXON Missense_T311M,Missense_T308M,Missense_T308M exm1240078 16 50815188 [C/G] NM_015247,NM_001042355,NM_001042412 CYLD,CYLD,CYLD EXON Missense_T517S,Missense_T514S,Missense_T514S exm-rs1528601 16 51098427 [C/G] exm-rs10521222 16 51158710 [T/C] exm1240108 16 51171034 [T/C] NM_001127892,NM_002968 SALL1,SALL1 EXON Missense_V1225I,Missense_V1322I exm1240109 16 51171035 [G/C] NM_001127892,NM_002968 SALL1,SALL1 EXON Missense_I1224M,Missense_I1321M exm1240117 16 51171175 [T/C] NM_001127892,NM_002968 SALL1,SALL1 EXON Missense_V1178I,Missense_V1275I exm1240121 16 51171204 [T/C] NM_001127892,NM_002968 SALL1,SALL1 EXON Missense_G1168E,Missense_G1265E exm1240132 16 51171313 [T/C] NM_001127892,NM_002968 SALL1,SALL1 EXON Missense_D1132N,Missense_D1229N exm1240146 16 51172811 [C/G] NM_001127892,NM_002968 SALL1,SALL1 EXON Missense_V1011L,Missense_V1108L exm2224919 16 51174142 [A/G] NM_001127892,NM_002968 SALL1,SALL1 EXON Missense_P567L,Missense_P664L exm1240211 16 51174229 [A/G] NM_001127892,NM_002968 SALL1,SALL1 EXON Missense_P538L,Missense_P635L exm1240212 16 51174230 [A/G] NM_001127892,NM_002968 SALL1,SALL1 EXON Missense_P538S,Missense_P635S exm1240213 16 51174255 [G/C] NM_001127892,NM_002968 SALL1,SALL1 EXON Missense_E529D,Missense_E626D exm1240223 16 51174535 [T/G] NM_001127892,NM_002968 SALL1,SALL1 EXON Missense_P436H,Missense_P533H exm1860459 16 51175157 [A/C] NM_001127892,NM_002968 SALL1,SALL1 EXON Missense_S229A,Missense_S326A exm1240268 16 51175655 [T/C] NM_001127892,NM_002968 SALL1,SALL1 EXON Missense_G63S,Missense_G160S exm2252615 16 51259725 [T/C] exm-rs4131099 16 51330531 [A/G] exm-rs1362756 16 51458290 [C/G] exm2267942 16 51683901 [A/G] exm2267889 16 51939435 [A/G] exm1240317 16 52473564 [A/G] NM_001080430,NM_001146188 TOX3,TOX3 EXON Missense_S435L,Missense_S430L exm1240322 16 52473651 [T/C] NM_001080430,NM_001146188 TOX3,TOX3 EXON Missense_N406S,Missense_N401S exm2224923 16 52473655 [T/C] NM_001080430,NM_001146188 TOX3,TOX3 EXON Missense_A405T,Missense_A400T exm2252620 16 52478215 [T/C] NM_001080430,NM_001146188 TOX3,TOX3 EXON Synonymous_A320A,Synonymous_A315A exm1240329 16 52478215 [T/C] NM_001080430,NM_001146188 TOX3,TOX3 EXON Synonymous_A320A,Synonymous_A315A exm1240332 16 52484196 [G/C] NM_001080430,NM_001146188 TOX3,TOX3 EXON Missense_A224G,Missense_A219G exm1240338 16 52484317 [T/C] NM_001080430,NM_001146188 TOX3,TOX3 EXON Missense_A184T,Missense_A179T exm1240346 16 52484383 [T/C] NM_001080430,NM_001146188 TOX3,TOX3 EXON Missense_D162N,Missense_D157N exm1240350 16 52484403 [T/C] NM_001080430,NM_001146188 TOX3,TOX3 EXON Missense_R155Q,Missense_R150Q exm1240354 16 52497869 [A/G] NM_001080430,NM_001146188 TOX3,TOX3 EXON Missense_L129F,Missense_L124F exm2272377 16 52522717 [T/C] NM_001080430,NM_001146188 TOX3,TOX3 Silent,Silent exm-rs3803662 16 52586341 [A/G] NR_033920 LOC643714 EXON Silent exm-rs4784227 16 52599188 [T/C] NR_033920 LOC643714 Silent exm2264616 16 52605026 [A/C] NR_033920 LOC643714 Silent exm-rs3104767 16 52624738 [T/G] NR_033920 LOC643714 Silent exm-rs3112612 16 52635164 [A/G] NR_033920 LOC643714 Silent exm1240401 16 53190992 [T/C] NM_025134 CHD9 EXON Missense_S331P exm1240403 16 53191116 [T/G] NM_025134 CHD9 EXON Missense_G372V exm1240414 16 53191383 [A/G] NM_025134 CHD9 EXON Missense_R461Q exm2267890 16 53250926 [A/G] NM_025134 CHD9 Silent exm1240423 16 53256560 [C/G] NM_025134 CHD9 EXON Missense_L597V exm1240434 16 53260327 [T/C] NM_025134 CHD9 EXON Missense_I649T exm1240446 16 53265391 [T/C] NM_025134 CHD9 EXON Missense_F783L exm1240448 16 53265413 [A/G] NM_025134 CHD9 EXON Missense_G790D exm1240460 16 53276756 [A/G] NM_025134 CHD9 EXON Missense_R961H exm1240479 16 53288423 [A/G] NM_025134 CHD9 EXON Missense_Y1312C exm1240510 16 53321892 [A/G] NM_025134 CHD9 EXON Missense_K1738R exm1240531 16 53331041 [A/G] NM_025134 CHD9 EXON Missense_R1895Q exm1240532 16 53331053 [A/G] NM_025134 CHD9 EXON Missense_R1899H exm1860790 16 53337907 [A/G] NM_025134 CHD9 EXON Missense_A1997T exm1240543 16 53338110 [C/G] NM_025134 CHD9 EXON Missense_M2064I exm1240572 16 53341748 [T/G] NM_025134 CHD9 EXON Missense_D2312E exm1240573 16 53341776 [A/G] NM_025134 CHD9 EXON Missense_G2322S exm1240574 16 53341800 [T/C] NM_025134 CHD9 EXON Missense_S2330P exm1240575 16 53341803 [A/G] NM_025134 CHD9 EXON Missense_T2331A exm1240588 16 53352182 [A/G] NM_025134 CHD9 EXON Missense_N2532S exm1240598 16 53358360 [T/G] NM_025134 CHD9 EXON Missense_E2733D exm1240600 16 53358439 [A/G] NM_025134 CHD9 EXON Missense_T2760A exm2276445 16 53468630 [A/C] NM_005611 RBL2 EXON Missense_S54R exm1240625 16 53472967 [T/G] NM_005611 RBL2 EXON Missense_A94S exm1240627 16 53473033 [A/G] NM_005611 RBL2 EXON Missense_R116G exm1860838 16 53476600 [T/G] NM_005611 RBL2 EXON Missense_K134N exm1240654 16 53493435 [T/C] NM_005611 RBL2 EXON Missense_P418S exm1240660 16 53495681 [A/G] NM_005611 RBL2 EXON Missense_I459V exm1240671 16 53498223 [T/A] NM_005611 RBL2 EXON Missense_N549I exm1240675 16 53499374 [G/C] NM_005611 RBL2 EXON Missense_E575Q exm1240676 16 53499418 [T/G] NM_005611 RBL2 EXON Missense_I589M exm1240687 16 53503912 [T/A] NM_005611 RBL2 EXON Missense_D687V exm1240700 16 53504511 [A/C] NM_005611 RBL2 EXON Missense_Q821P exm1240702 16 53504536 [A/T] NM_005611 RBL2 EXON Missense_R829S exm1240717 16 53513096 [A/G] NM_005611 RBL2 EXON Missense_I912V exm1240721 16 53513807 [A/C] NM_005611 RBL2 EXON Missense_S929R exm1240724 16 53514580 [A/G] NM_005611 RBL2 EXON Missense_S995G exm1240753 16 53528057 [T/C] NM_022476,NM_001012398 AKTIP,AKTIP EXON Missense_A235T,Missense_A235T exm1240779 16 53639438 [T/C] NM_001127897,NM_015272 RPGRIP1L,RPGRIP1L EXON Missense_D1184N,Missense_D1264N exm1240782 16 53639509 [A/G] NM_001127897,NM_015272 RPGRIP1L,RPGRIP1L EXON Missense_V1160A,Missense_V1240A exm1240785 16 53644890 [T/C] NM_001127897,NM_015272 RPGRIP1L,RPGRIP1L EXON Missense_M1150I,Missense_M1230I exm2272436 16 53649168 [T/C] NM_001127897,NM_015272 RPGRIP1L,RPGRIP1L Silent,Silent exm1240789 16 53652991 [T/C] NM_001127897,NM_015272 RPGRIP1L,RPGRIP1L EXON Missense_V1108M,Missense_V1188M exm1240790 16 53653005 [C/G] NM_001127897,NM_015272 RPGRIP1L,RPGRIP1L EXON Missense_A1103G,Missense_A1183G exm1240800 16 53671754 [T/C] NM_001127897,NM_015272 RPGRIP1L,RPGRIP1L EXON Missense_G991S,Missense_G1025S exm1240811 16 53675264 [A/C] NM_001127897,NM_015272 RPGRIP1L,RPGRIP1L EXON Missense_I936S,Missense_I936S exm1240815 16 53679538 [T/C] NM_001127897,NM_015272 RPGRIP1L,RPGRIP1L EXON Synonymous_S894S,Synonymous_S894S exm1240817 16 53679577 [T/A] NM_001127897,NM_015272 RPGRIP1L,RPGRIP1L EXON Missense_N881K,Missense_N881K exm1240833 16 53682940 [T/C] NM_001127897,NM_015272 RPGRIP1L,RPGRIP1L EXON Missense_R747Q,Missense_R747Q exm1240834 16 53682949 [T/C] NM_001127897,NM_015272 RPGRIP1L,RPGRIP1L EXON Missense_R744Q,Missense_R744Q exm1240840 16 53686506 [A/C] NM_001127897,NM_015272 RPGRIP1L,RPGRIP1L EXON Nonsense_L698X,Nonsense_L698X exm1240841 16 53686549 [A/G] NM_001127897,NM_015272 RPGRIP1L,RPGRIP1L EXON Nonsense_Q684X,Nonsense_Q684X exm1240854 16 53686789 [T/C] NM_001127897,NM_015272 RPGRIP1L,RPGRIP1L EXON Missense_E604K,Missense_E604K exm1240856 16 53686863 [T/C] NM_001127897,NM_015272 RPGRIP1L,RPGRIP1L EXON Missense_Y579C,Missense_Y579C exm1240858 16 53690401 [T/C] NM_001127897,NM_015272 RPGRIP1L,RPGRIP1L EXON Missense_R561H,Missense_R561H exm1240860 16 53690423 [T/G] NM_001127897,NM_015272 RPGRIP1L,RPGRIP1L EXON Missense_L554I,Missense_L554I exm1240871 16 53691498 [A/G] NM_001127897,NM_015272 RPGRIP1L,RPGRIP1L EXON Missense_V483A,Missense_V483A exm1240880 16 53692694 [A/G] NM_001127897,NM_015272 RPGRIP1L,RPGRIP1L EXON Missense_L447S,Missense_L447S exm1240884 16 53692754 [A/G] NM_001127897,NM_015272 RPGRIP1L,RPGRIP1L EXON Missense_L427P,Missense_L427P exm1240889 16 53698860 [T/C] NM_001127897,NM_015272 RPGRIP1L,RPGRIP1L EXON Missense_I389V,Missense_I389V exm1240899 16 53708990 [T/A] NM_001127897,NM_015272 RPGRIP1L,RPGRIP1L EXON Missense_Q274L,Missense_Q274L exm1240905 16 53720481 [T/C] NM_001127897,NM_015272 RPGRIP1L,RPGRIP1L EXON Missense_V214I,Missense_V214I exm1240906 16 53721779 [T/C] NM_001127897,NM_015272 RPGRIP1L,RPGRIP1L EXON Missense_N210D,Missense_N210D exm1240910 16 53721875 [T/C] NM_001127897,NM_015272 RPGRIP1L,RPGRIP1L EXON Missense_I178V,Missense_I178V exm1240913 16 53726025 [T/C] NM_001127897,NM_015272 RPGRIP1L,RPGRIP1L EXON Missense_R161H,Missense_R161H exm1240919 16 53726251 [T/C] NM_001127897,NM_015272 RPGRIP1L,RPGRIP1L EXON Missense_V86I,Missense_V86I exm1240921 16 53726256 [T/C] NM_001127897,NM_015272 RPGRIP1L,RPGRIP1L EXON Missense_R84Q,Missense_R84Q exm1240927 16 53730122 [A/C] NM_001127897,NM_015272 RPGRIP1L,RPGRIP1L EXON Missense_L57F,Missense_L57F exm-rs6499640 16 53769677 [A/G] NM_001080432 FTO Silent exm-rs9930333 16 53799977 [T/G] NM_001080432 FTO Silent exm-rs1421085 16 53800954 [T/C] NM_001080432 FTO Silent exm-rs1558902 16 53803574 [T/A] NM_001080432 FTO Silent exm-rs1121980 16 53809247 [A/G] NM_001080432 FTO Silent exm-rs17817449 16 53813367 [T/G] NM_001080432 FTO Silent exm-rs11075987 16 53815161 [T/G] NM_001080432 FTO Silent exm-rs8050136 16 53816275 [A/C] NM_001080432 FTO Silent exm2272378 16 53818708 [T/G] NM_001080432 FTO Silent exm-rs9939609 16 53820527 [A/T] NM_001080432 FTO Silent exm-rs9941349 16 53825488 [T/C] NM_001080432 FTO Silent exm-rs9930506 16 53830465 [A/G] NM_001080432 FTO Silent exm1240963 16 53859930 [C/G] NM_001080432 FTO EXON Missense_P93R exm1240968 16 53860052 [A/G] NM_001080432 FTO EXON Missense_A134T exm1240971 16 53860088 [A/C] NM_001080432 FTO EXON Missense_L146M exm1240974 16 53860139 [A/G] NM_001080432 FTO EXON Missense_A163T exm1240977 16 53860253 [A/G] NM_001080432 FTO EXON Missense_V201I exm1240979 16 53860271 [A/G] NM_001080432 FTO EXON Missense_M207V exm1240984 16 53860373 [A/G] NM_001080432 FTO EXON Missense_A241T exm1241001 16 53913775 [A/G] NM_001080432 FTO EXON Missense_D332G exm1241017 16 53922822 [A/G] NM_001080432 FTO EXON Missense_M400V exm1241018 16 53922838 [T/C] NM_001080432 FTO EXON Missense_A405V exm1241021 16 53967952 [A/G] NM_001080432 FTO EXON Missense_N432S exm2267891 16 54120952 [A/G] NM_001080432 FTO Silent exm1241039 16 54318158 [T/C] NM_024336 IRX3 EXON Missense_R484Q exm1241040 16 54318172 [A/C] NM_024336 IRX3 EXON Missense_Q479H exm2260556 16 54438254 [A/G] exm-rs9921518 16 54494424 [A/G] exm2272379 16 54780370 [T/C] exm1241117 16 54967040 [T/C] NM_001252197,NM_005853 IRX5,IRX5 EXON Missense_P235L,Missense_P236L exm1241121 16 54967096 [A/C] NM_001252197,NM_005853 IRX5,IRX5 EXON Missense_P254T,Missense_P255T exm1241134 16 54967565 [A/G] NM_001252197,NM_005853 IRX5,IRX5 EXON Missense_G410D,Missense_G411D exm2260557 16 55157679 [A/G] exm-rs17291845 16 55245037 [A/G] exm2272380 16 55253123 [T/G] exm1241171 16 55359026 [A/G] NM_024335 IRX6 EXON Missense_H8R exm1241172 16 55359029 [G/C] NM_024335 IRX6 EXON Missense_P9R exm1241174 16 55359044 [C/G] NM_024335 IRX6 EXON Missense_S14C exm1241179 16 55360297 [A/G] NM_024335 IRX6 EXON Missense_R32H exm1241182 16 55360345 [T/G] NM_024335 IRX6 EXON Missense_C48F exm1241196 16 55361214 [T/C] NM_024335 IRX6 EXON Nonsense_Q104X exm1861018 16 55361290 [A/G] NM_024335 IRX6 EXON Missense_R129Q exm1241200 16 55361316 [T/C] NM_024335 IRX6 EXON Missense_R138W exm1861021 16 55361523 [C/G] NM_024335 IRX6 EXON Missense_A147P exm1241211 16 55361613 [A/G] NM_024335 IRX6 EXON Missense_G177S exm1241223 16 55361727 [A/C] NM_024335 IRX6 EXON Missense_K215Q exm1241230 16 55362645 [A/G] NM_024335 IRX6 EXON Missense_R252Q exm1241246 16 55362842 [T/A] NM_024335 IRX6 EXON Missense_F318I exm1241249 16 55362909 [T/C] NM_024335 IRX6 EXON Missense_T340I exm1241253 16 55362971 [A/T] NM_024335 IRX6 EXON Missense_S361C exm1241289 16 55518043 [A/G] NM_004530,NM_001127891 MMP2,MMP2 EXON Missense_E166K,Missense_E116K exm1241290 16 55518046 [A/G] NM_004530,NM_001127891 MMP2,MMP2 EXON Missense_A167T,Missense_A117T exm1241313 16 55522595 [T/C] NM_004530,NM_001127891 MMP2,MMP2 EXON Missense_R325C,Missense_R275C exm1241328 16 55525720 [A/C] NM_004530,NM_001127891 MMP2,MMP2 EXON Missense_S396R,Missense_S346R exm1241332 16 55525759 [A/G] NM_004530,NM_001127891 MMP2,MMP2 EXON Missense_M409I,Missense_M359I exm1241342 16 55527073 [T/C] NM_004530,NM_001127891 MMP2,MMP2 EXON Missense_A447V,Missense_A397V exm1241344 16 55527099 [A/G] NM_004530,NM_001127891 MMP2,MMP2 EXON Missense_G456S,Missense_G406S exm1241347 16 55527177 [T/C] NM_004530,NM_001127891 MMP2,MMP2 EXON Missense_R482C,Missense_R432C exm1241348 16 55527205 [A/G] NM_004530,NM_001127891 MMP2,MMP2 EXON Missense_R491Q,Missense_R441Q exm1861081 16 55530864 [A/G] NM_004530,NM_001127891 MMP2,MMP2 EXON Missense_R500H,Missense_R450H exm1241364 16 55532219 [A/G] NM_004530,NM_001127891 MMP2,MMP2 EXON Missense_Y543C,Missense_Y493C exm1241365 16 55532225 [T/C] NM_004530,NM_001127891 MMP2,MMP2 EXON Missense_A545V,Missense_A495V exm1241373 16 55536723 [T/G] NM_004530,NM_001127891 MMP2,MMP2 EXON Missense_G601V,Missense_G551V exm1241379 16 55536779 [A/G] NM_004530,NM_001127891 MMP2,MMP2 EXON Missense_V620I,Missense_V570I exm1241393 16 55559453 [T/C] NM_017839 LPCAT2 EXON Missense_R69C exm1241397 16 55559513 [A/G] NM_017839 LPCAT2 EXON Missense_V89I exm1241404 16 55562359 [A/G] NM_017839 LPCAT2 EXON Missense_V128I exm1241406 16 55562466 [A/G] NM_017839 LPCAT2 EXON Missense_M163I exm1241411 16 55563792 [T/C] NM_017839 LPCAT2 EXON Missense_P192L exm1241427 16 55579710 [A/G] NM_017839 LPCAT2 EXON Missense_V306I exm1241429 16 55579714 [A/G] NM_017839 LPCAT2 EXON Missense_R307Q exm1241441 16 55584952 [A/G] NM_017839 LPCAT2 EXON Missense_A385T exm1241443 16 55600672 [T/A] NM_017839,NM_032330 LPCAT2,CAPNS2 EXON Silent,Missense_F2I exm1241450 16 55600965 [A/T] NM_017839,NM_032330 LPCAT2,CAPNS2 EXON Silent,Missense_D99E exm1241451 16 55601041 [T/C] NM_017839,NM_032330 LPCAT2,CAPNS2 EXON Silent,Missense_R125W exm1241452 16 55601042 [A/G] NM_017839,NM_032330 LPCAT2,CAPNS2 EXON Silent,Missense_R125Q exm1241455 16 55601165 [A/C] NM_017839,NM_032330 LPCAT2,CAPNS2 EXON Silent,Missense_S166Y exm1241456 16 55601192 [A/G] NM_017839,NM_032330 LPCAT2,CAPNS2 EXON Silent,Missense_R175Q exm1241466 16 55613040 [T/A] NM_017839 LPCAT2 EXON Missense_D445V exm1241468 16 55613052 [T/C] NM_017839 LPCAT2 EXON Missense_T449M exm1241470 16 55613118 [T/G] NM_017839 LPCAT2 EXON Missense_L471R exm1241471 16 55613141 [G/C] NM_017839 LPCAT2 EXON Missense_D479H exm1241474 16 55690627 [A/C] NM_001172501,NM_001043,NM_001172504 SLC6A2,SLC6A2,SLC6A2 EXON Missense_N7K,Missense_N7K,Missense_N7K exm1241480 16 55690811 [A/G] NM_001172501,NM_001043,NM_001172504 SLC6A2,SLC6A2,SLC6A2 EXON Missense_V69I,Missense_V69I,Missense_V69I exm1241481 16 55703498 [T/C] NM_001172501,NM_001043,NM_001172504 SLC6A2,SLC6A2,SLC6A2 EXON Missense_T99I,Missense_T99I,Missense_T99I exm1861131 16 55705821 [C/G] NM_001172501,NM_001043,NM_001172504,NM_001172502 SLC6A2,SLC6A2,SLC6A2,SLC6A2 EXON Silent,Silent,Silent,Missense_D21E exm1241487 16 55705838 [A/G] NM_001172501,NM_001043,NM_001172504,NM_001172502 SLC6A2,SLC6A2,SLC6A2,SLC6A2 EXON Silent,Silent,Silent,Missense_C27Y exm1241505 16 55719077 [A/G] NM_001172501,NM_001043,NM_001172504,NM_001172502 SLC6A2,SLC6A2,SLC6A2,SLC6A2 EXON Missense_E223K,Missense_E223K,Missense_E223K,Missense_E118K exm1241511 16 55719143 [A/G] NM_001172501,NM_001043,NM_001172504,NM_001172502 SLC6A2,SLC6A2,SLC6A2,SLC6A2 EXON Missense_V245I,Missense_V245I,Missense_V245I,Missense_V140I exm1241517 16 55725894 [C/G] NM_001172501,NM_001043,NM_001172504,NM_001172502 SLC6A2,SLC6A2,SLC6A2,SLC6A2 EXON Missense_T283R,Missense_T283R,Missense_T283R,Missense_T178R exm1861143 16 55725912 [A/G] NM_001172501,NM_001043,NM_001172504,NM_001172502 SLC6A2,SLC6A2,SLC6A2,SLC6A2 EXON Missense_N289S,Missense_N289S,Missense_N289S,Missense_N184S exm1241524 16 55729190 [A/G] NM_001172501,NM_001043,NM_001172504,NM_001172502 SLC6A2,SLC6A2,SLC6A2,SLC6A2 EXON Synonymous_R341R,Synonymous_R341R,Synonymous_R341R,Synonymous_R236R exm1241558 16 55735817 [G/C] NM_001172501,NM_001043,NM_001172504,NM_001172502 SLC6A2,SLC6A2,SLC6A2,SLC6A2 EXON Missense_V601L,Missense_V601L,Missense_V601L,Missense_V496L exm1241582 16 55844909 [T/C] NM_001025195,NM_001025194,NM_001266 CES1,CES1,CES1 EXON Missense_Y367C,Missense_Y366C,Missense_Y365C exm1241617 16 55853491 [A/G] NM_001025195,NM_001025194,NM_001266 CES1,CES1,CES1 EXON Nonsense_R288X,Nonsense_R287X,Nonsense_R287X exm1241620 16 55853502 [A/G] NM_001025195,NM_001025194,NM_001266 CES1,CES1,CES1 EXON Missense_V284A,Missense_V283A,Missense_V283A exm1241664 16 55860206 [A/G] NM_001025195,NM_001025194,NM_001266 CES1,CES1,CES1 EXON Missense_C88R,Missense_C87R,Missense_C87R exm1241668 16 55862682 [A/G] NM_001025195,NM_001025194,NM_001266 CES1,CES1,CES1 EXON Missense_P86L,Missense_P85L,Missense_P85L exm1241692 16 55862883 [A/C] NM_001025195,NM_001025194,NM_001266 CES1,CES1,CES1 EXON Missense_G19V,Missense_G18V,Missense_G18V exm1241699 16 55866915 [T/C] NM_001025195,NM_001025194,NM_001266 CES1,CES1,CES1 Silent,Silent,Silent exm1241701 16 55866937 [T/G] NM_001025195,NM_001025194,NM_001266 CES1,CES1,CES1 EXON Missense_L11I,Missense_L11I,Missense_L11I exm1241715 16 55880411 [T/G] NM_145024,NM_001143685,NM_001190158 CES5A,CES5A,CES5A EXON Missense_L510F,Missense_L560F,Missense_L589F exm1241720 16 55880480 [A/C] NM_145024,NM_001143685,NM_001190158 CES5A,CES5A,CES5A EXON Missense_D487E,Missense_D537E,Missense_D566E exm1241721 16 55880490 [A/G] NM_145024,NM_001143685,NM_001190158 CES5A,CES5A,CES5A EXON Missense_P484L,Missense_P534L,Missense_P563L exm2252630 16 55880534 [G/C] NM_145024,NM_001143685,NM_001190158 CES5A,CES5A,CES5A EXON Synonymous_L469L,Synonymous_L519L,Synonymous_L548L exm1241726 16 55880590 [A/G] NM_145024,NM_001143685,NM_001190158 CES5A,CES5A,CES5A EXON Missense_P451S,Missense_P501S,Missense_P530S exm1241730 16 55880681 [T/C] NM_145024,NM_001143685,NM_001190158 CES5A,CES5A,CES5A EXON Missense_G449R,Missense_G499R,Missense_G528R exm1241734 16 55880720 [A/G] NM_145024,NM_001143685,NM_001190158 CES5A,CES5A,CES5A EXON Missense_R436W,Missense_R486W,Missense_R515W exm1241735 16 55880734 [T/C] NM_145024,NM_001143685,NM_001190158 CES5A,CES5A,CES5A EXON Missense_E431G,Missense_E481G,Missense_E510G exm1241742 16 55883596 [T/C] NM_145024,NM_001143685,NM_001190158 CES5A,CES5A,CES5A EXON Silent,Missense_A455T,Missense_A484T exm1241746 16 55883627 [T/G] NM_145024,NM_001143685,NM_001190158 CES5A,CES5A,CES5A EXON Silent,Missense_D444E,Missense_D473E exm1241747 16 55883652 [T/C] NM_145024,NM_001143685,NM_001190158 CES5A,CES5A,CES5A EXON Silent,Missense_R436Q,Missense_R465Q exm1241753 16 55886804 [C/G] NM_145024,NM_001143685,NM_001190158 CES5A,CES5A,CES5A EXON Missense_R421P,Missense_R421P,Missense_R450P exm1241758 16 55886933 [A/G] NM_145024,NM_001143685,NM_001190158 CES5A,CES5A,CES5A EXON Missense_P378L,Missense_P378L,Missense_P407L exm1241772 16 55893590 [T/A] NM_145024,NM_001143685,NM_001190158 CES5A,CES5A,CES5A EXON Missense_S309T,Missense_S309T,Missense_S338T exm1861258 16 55899922 [T/C] NM_145024,NM_001143685,NM_001190158 CES5A,CES5A,CES5A EXON Missense_V220M,Missense_V220M,Missense_V249M exm1241796 16 55900020 [T/G] NM_145024,NM_001143685,NM_001190158 CES5A,CES5A,CES5A EXON Missense_D187A,Missense_D187A,Missense_D216A exm1241801 16 55903522 [T/C] NM_145024,NM_001143685,NM_001190158 CES5A,CES5A,CES5A Silent,Silent,Silent exm1241802 16 55903523 [A/G] NM_145024,NM_001143685,NM_001190158 CES5A,CES5A,CES5A EXON Missense_T184I,Missense_T184I,Missense_T213I exm1241812 16 55903640 [A/G] NM_145024,NM_001143685,NM_001190158 CES5A,CES5A,CES5A EXON Missense_P145L,Missense_P145L,Missense_P174L exm1241815 16 55905536 [T/C] NM_145024,NM_001143685,NM_001190158 CES5A,CES5A,CES5A Silent,Silent,Silent exm1241816 16 55905537 [A/G] NM_145024,NM_001143685,NM_001190158 CES5A,CES5A,CES5A EXON Synonymous_P139P,Synonymous_P139P,Synonymous_P168P exm1241820 16 55905560 [T/C] NM_145024,NM_001143685,NM_001190158 CES5A,CES5A,CES5A EXON Missense_A132T,Missense_A132T,Missense_A161T exm1241823 16 55905571 [T/G] NM_145024,NM_001143685,NM_001190158 CES5A,CES5A,CES5A EXON Missense_A128E,Missense_A128E,Missense_A157E exm1241836 16 55905676 [T/C] NM_145024,NM_001143685,NM_001190158 CES5A,CES5A,CES5A Silent,Silent,Silent exm2272437 16 55906063 [T/C] NM_145024,NM_001143685,NM_001190158 CES5A,CES5A,CES5A Silent,Silent,Silent exm2252631 16 55906487 [A/C] NM_145024,NM_001143685,NM_001190158 CES5A,CES5A,CES5A Silent,Silent,Silent exm1241838 16 55907760 [T/G] NM_145024,NM_001143685,NM_001190158 CES5A,CES5A,CES5A EXON Missense_T88N,Missense_T88N,Missense_T117N exm1861267 16 55907799 [A/G] NM_145024,NM_001143685,NM_001190158 CES5A,CES5A,CES5A EXON Missense_P75L,Missense_P75L,Missense_P104L exm1241842 16 55907811 [T/C] NM_145024,NM_001143685,NM_001190158 CES5A,CES5A,CES5A EXON Missense_R71Q,Missense_R71Q,Missense_R100Q exm1861269 16 55907826 [A/G] NM_145024,NM_001143685,NM_001190158 CES5A,CES5A,CES5A EXON Missense_P66L,Missense_P66L,Missense_P95L exm1241848 16 55907857 [T/C] NM_145024,NM_001143685,NM_001190158 CES5A,CES5A,CES5A EXON Missense_V56M,Missense_V56M,Missense_V85M exm1241896 16 56374792 [A/G] NM_020988,NM_138736 GNAO1,GNAO1 EXON Silent,Missense_N257S exm2224960 16 56374872 [T/C] NM_020988,NM_138736 GNAO1,GNAO1 EXON Silent,Missense_L284F exm1241901 16 56377722 [A/G] NM_020988,NM_138736 GNAO1,GNAO1 EXON Silent,Missense_E309K exm1241904 16 56377816 [T/C] NM_020988,NM_138736 GNAO1,GNAO1 EXON Silent,Missense_T340M exm1241906 16 56377830 [A/G] NM_020988,NM_138736 GNAO1,GNAO1 EXON Silent,Missense_A345T exm1861331 16 56396825 [A/G] NM_001144 AMFR EXON Missense_S643F exm1241960 16 56398010 [T/C] NM_001144 AMFR EXON Missense_R536H exm1241967 16 56401439 [A/G] NM_001144 AMFR EXON Missense_R506W exm1241974 16 56419877 [T/C] NM_001144 AMFR EXON Missense_N445S exm1241988 16 56438840 [A/G] NM_001144 AMFR EXON Missense_M274T exm1241998 16 56441913 [A/G] NM_001144 AMFR EXON Missense_T210I exm1242002 16 56441988 [T/C] NM_001144 AMFR EXON Missense_R185Q exm1242062 16 56492469 [A/T] NM_018233 OGFOD1 EXON Missense_L104M exm1242064 16 56496469 [A/G] NM_018233 OGFOD1 EXON Missense_R124Q exm1242073 16 56500132 [T/C] NM_018233 OGFOD1 EXON Missense_P173S exm1861391 16 56500141 [A/G] NM_018233 OGFOD1 EXON Missense_R176G exm1242078 16 56500824 [A/T] NM_018233 OGFOD1 EXON Missense_I201N exm1242083 16 56501116 [A/G] NM_018233 OGFOD1 EXON Missense_I233V exm2224962 16 56501176 [A/G] NM_018233 OGFOD1 EXON Missense_I253V exm1242086 16 56501179 [A/C] NM_018233 OGFOD1 EXON Missense_P254T exm1242090 16 56501820 [A/G] NM_018233 OGFOD1 EXON Missense_E264K exm1242093 16 56501874 [A/C] NM_018233 OGFOD1 EXON Missense_Q282K exm1242096 16 56503936 [T/C] NM_018233 OGFOD1 EXON Missense_C308R exm1861402 16 56504666 [G/C] NM_018233 OGFOD1 EXON Missense_Q416H exm1242113 16 56508775 [T/C] NM_018233 OGFOD1 EXON Missense_H441Y exm1242125 16 56510044 [A/G] NM_018233 OGFOD1 EXON Missense_R519Q exm1242138 16 56519510 [T/C] NM_031885 BBS2 EXON Missense_R684H exm1861418 16 56530925 [A/G] NM_031885 BBS2 EXON Nonsense_R622X exm1242158 16 56533694 [T/G] NM_031885 BBS2 EXON Missense_Q508P exm1242159 16 56533706 [A/G] NM_031885 BBS2 EXON Missense_A504V exm1242170 16 56534925 [T/C] NM_031885 BBS2 EXON Missense_R413Q exm1242187 16 56536314 [T/C] NM_031885 BBS2 EXON Missense_S332N exm1242194 16 56536660 [T/C] NM_031885 BBS2 EXON Missense_I289V exm1242218 16 56545175 [T/C] NM_031885 BBS2 EXON Missense_I123V exm1861448 16 56548384 [A/G] NM_031885 BBS2 EXON Missense_S109L exm1242225 16 56548501 [T/C] NM_031885 BBS2 EXON Missense_S70N exm1242226 16 56548584 [A/C] NM_031885 BBS2 EXON Missense_I42M exm2252632 16 56576763 [T/C] exm1242244 16 56601720 [A/G] NM_032935 MT4 EXON Missense_Y30C exm1242245 16 56601722 [T/C] NM_032935 MT4 EXON Missense_W31R exm1242249 16 56602798 [A/G] NM_032935 MT4 EXON Missense_G48D exm1242250 16 56602807 [A/G] NM_032935 MT4 EXON Missense_C51Y exm1242251 16 56602813 [G/C] NM_032935 MT4 EXON Missense_G53A exm1242261 16 56624854 [A/G] NM_005954 MT3 EXON Missense_C67Y exm1242274 16 56659774 [A/G] NM_175617 MT1E EXON Missense_N4S exm1861475 16 56659783 [A/G] NM_175617 MT1E EXON Missense_C7Y exm1242300 16 56667294 [A/G] NM_176870 MT1M EXON Missense_C24Y exm1242305 16 56667672 [T/C] NM_176870 MT1M EXON Missense_S35F exm1242354 16 56686970 [A/G] NM_005947 MT1B EXON Missense_C60Y exm1242362 16 56691995 [T/G] NM_005949 MT1F EXON Missense_A9S exm1242374 16 56693058 [C/G] NM_005949 MT1F EXON Missense_K56N exm1242376 16 56693074 [T/C] NM_005949 MT1F EXON Missense_X62R exm1242394 16 56701283 [A/G] NM_005950 MT1G EXON Missense_S12F exm1242405 16 56703807 [A/G] NM_005951 MT1H EXON Missense_N4S exm1242412 16 56704438 [A/G] NM_005951 MT1H EXON Missense_G17S exm1242471 16 56839452 [A/G] NM_014669,NM_001242795,NM_001242796 NUP93,NUP93,NUP93 EXON Missense_M133V,Missense_M10V,Missense_M10V exm1242478 16 56855472 [C/G] NM_014669,NM_001242795,NM_001242796 NUP93,NUP93,NUP93 EXON Missense_D207E,Missense_D84E,Missense_D84E exm1242491 16 56857680 [T/C] NM_014669,NM_001242795,NM_001242796 NUP93,NUP93,NUP93 EXON Missense_T239M,Missense_T116M,Missense_T116M exm1242496 16 56857754 [G/C] NM_014669,NM_001242795,NM_001242796 NUP93,NUP93,NUP93 EXON Missense_Q264E,Missense_Q141E,Missense_Q141E exm1242507 16 56864512 [A/G] NM_014669,NM_001242795,NM_001242796 NUP93,NUP93,NUP93 EXON Missense_A334T,Missense_A211T,Missense_A211T exm1242513 16 56865830 [T/C] NM_014669,NM_001242795,NM_001242796 NUP93,NUP93,NUP93 EXON Missense_R388W,Missense_R265W,Missense_R265W exm1242514 16 56865879 [A/G] NM_014669,NM_001242795,NM_001242796 NUP93,NUP93,NUP93 EXON Missense_S404N,Missense_S281N,Missense_S281N exm1242526 16 56867237 [T/C] NM_014669,NM_001242795,NM_001242796 NUP93,NUP93,NUP93 EXON Missense_R486C,Missense_R363C,Missense_R363C exm1242536 16 56868076 [A/G] NM_014669,NM_001242795,NM_001242796 NUP93,NUP93,NUP93 EXON Missense_R525Q,Missense_R402Q,Missense_R402Q exm1242557 16 56870627 [A/C] NM_014669,NM_001242795,NM_001242796 NUP93,NUP93,NUP93 EXON Missense_K633Q,Missense_K510Q,Missense_K510Q exm2224972 16 56871541 [G/C] NM_014669,NM_001242795,NM_001242796 NUP93,NUP93,NUP93 EXON Missense_L641V,Missense_L518V,Missense_L518V exm1242573 16 56875731 [A/G] NM_014669,NM_001242795,NM_001242796 NUP93,NUP93,NUP93 EXON Missense_E779K,Missense_E656K,Missense_E656K exm1242574 16 56875738 [A/G] NM_014669,NM_001242795,NM_001242796 NUP93,NUP93,NUP93 EXON Missense_R781H,Missense_R658H,Missense_R658H exm1242589 16 56899228 [G/C] NM_000339,NM_001126108,NM_001126107 SLC12A3,SLC12A3,SLC12A3 EXON Missense_S27R,Missense_S27R,Missense_S27R exm1242607 16 56901062 [C/G] NM_000339,NM_001126108,NM_001126107 SLC12A3,SLC12A3,SLC12A3 EXON Missense_E121D,Missense_E121D,Missense_E120D exm2274843 16 56901090 [A/G] NM_000339,NM_001126108,NM_001126107 SLC12A3,SLC12A3,SLC12A3 EXON Missense_E131K,Missense_E131K,Missense_E130K exm1242610 16 56901121 [C/G] NM_000339,NM_001126108,NM_001126107 SLC12A3,SLC12A3,SLC12A3 EXON Missense_G141A,Missense_G141A,Missense_G140A exm1242616 16 56902283 [T/C] NM_000339,NM_001126108,NM_001126107 SLC12A3,SLC12A3,SLC12A3 EXON Synonymous_I168I,Synonymous_I168I,Synonymous_I167I exm1242617 16 56902284 [A/G] NM_000339,NM_001126108,NM_001126107 SLC12A3,SLC12A3,SLC12A3 EXON Missense_V169I,Missense_V169I,Missense_V168I exm1242618 16 56903640 [A/G] NM_000339,NM_001126108,NM_001126107 SLC12A3,SLC12A3,SLC12A3 Silent,Silent,Silent exm2277096 16 56903674 [T/C] NM_000339,NM_001126108,NM_001126107 SLC12A3,SLC12A3,SLC12A3 EXON Missense_T180M,Missense_T180M,Missense_T179M exm1861596 16 56903674 [A/C] NM_000339,NM_001126108,NM_001126107 SLC12A3,SLC12A3,SLC12A3 EXON Missense_T180K,Missense_T180K,Missense_T179K exm1861599 16 56904091 [A/G] NM_000339,NM_001126108,NM_001126107 SLC12A3,SLC12A3,SLC12A3 EXON Missense_V229M,Missense_V229M,Missense_V228M exm1242642 16 56904587 [C/G] NM_000339,NM_001126108,NM_001126107 SLC12A3,SLC12A3,SLC12A3 EXON Missense_A264G,Missense_A264G,Missense_A263G exm1242649 16 56906338 [A/G] NM_000339,NM_001126108,NM_001126107 SLC12A3,SLC12A3,SLC12A3 EXON Missense_E310K,Missense_E310K,Missense_E309K exm1242653 16 56906568 [T/C] NM_000339,NM_001126108,NM_001126107 SLC12A3,SLC12A3,SLC12A3 EXON Missense_A322V,Missense_A322V,Missense_A321V exm1242654 16 56906569 [A/G] NM_000339,NM_001126108,NM_001126107 SLC12A3,SLC12A3,SLC12A3 EXON Synonymous_A322A,Synonymous_A322A,Synonymous_A321A exm1242656 16 56906616 [A/G] NM_000339,NM_001126108,NM_001126107 SLC12A3,SLC12A3,SLC12A3 EXON Missense_G338D,Missense_G338D,Missense_G337D exm1242667 16 56913014 [A/G] NM_000339,NM_001126108,NM_001126107 SLC12A3,SLC12A3,SLC12A3 EXON Missense_V404I,Missense_V404I,Missense_V403I exm1242669 16 56913080 [A/G] NM_000339,NM_001126108,NM_001126107 SLC12A3,SLC12A3,SLC12A3 EXON Missense_N426D,Missense_N426D,Missense_N425D exm1242676 16 56913478 [A/G] NM_000339,NM_001126108,NM_001126107 SLC12A3,SLC12A3,SLC12A3 EXON Missense_A454T,Missense_A454T,Missense_A453T exm2252635 16 56913510 [A/C] NM_000339,NM_001126108,NM_001126107 SLC12A3,SLC12A3,SLC12A3 EXON Synonymous_A464A,Synonymous_A464A,Synonymous_A463A exm2224975 16 56913530 [T/C] NM_000339,NM_001126108,NM_001126107 SLC12A3,SLC12A3,SLC12A3 EXON Missense_A471V,Missense_A471V,Missense_A470V exm1242693 16 56914051 [A/G] NM_000339,NM_001126108,NM_001126107 SLC12A3,SLC12A3,SLC12A3 EXON Missense_E485K,Missense_E485K,Missense_E484K exm1242702 16 56914159 [A/G] NM_000339,NM_001126108,NM_001126107 SLC12A3,SLC12A3,SLC12A3 EXON Missense_I521V,Missense_I521V,Missense_I520V exm1242705 16 56916340 [A/C] NM_000339,NM_001126108,NM_001126107 SLC12A3,SLC12A3,SLC12A3 EXON Missense_N534H,Missense_N534H,Missense_N533H exm1242713 16 56918000 [T/C] NM_000339,NM_001126108,NM_001126107 SLC12A3,SLC12A3,SLC12A3 EXON Missense_A570V,Missense_A570V,Missense_A569V exm1861634 16 56918023 [A/G] NM_000339,NM_001126108,NM_001126107 SLC12A3,SLC12A3,SLC12A3 EXON Missense_V578M,Missense_V578M,Missense_V577M exm1242716 16 56918033 [T/C] NM_000339,NM_001126108,NM_001126107 SLC12A3,SLC12A3,SLC12A3 EXON Missense_M581T,Missense_M581T,Missense_M580T exm1242730 16 56919216 [A/G] NM_000339,NM_001126108,NM_001126107 SLC12A3,SLC12A3,SLC12A3 EXON Missense_N622S,Missense_N622S,Missense_N621S exm1242737 16 56920278 [T/C] NM_000339,NM_001126108,NM_001126107 SLC12A3,SLC12A3,SLC12A3 EXON Missense_P643L,Missense_P643L,Missense_P642L exm1242742 16 56920317 [T/C] NM_000339,NM_001126108,NM_001126107 SLC12A3,SLC12A3,SLC12A3 EXON Missense_P656L,Missense_P656L,Missense_P655L exm1242752 16 56920910 [A/G] NM_000339,NM_001126108,NM_001126107 SLC12A3,SLC12A3,SLC12A3 EXON Missense_G695R,Missense_G695R,Missense_G694R exm1242763 16 56921840 [A/G] NM_000339,NM_001126108,NM_001126107 SLC12A3,SLC12A3,SLC12A3 EXON Missense_A728T,Missense_A728T,Missense_A727T exm1242780 16 56924263 [T/C] NM_000339,NM_001126108,NM_001126107 SLC12A3,SLC12A3,SLC12A3 EXON Missense_A788V,Missense_A788V,Missense_A787V exm1242793 16 56926915 [A/T] NM_000339,NM_001126108,NM_001126107 SLC12A3,SLC12A3,SLC12A3 EXON Missense_S833T,Missense_S824T,Missense_S832T exm1242817 16 56933519 [A/G] NM_000339,NM_001126108,NM_001126107 SLC12A3,SLC12A3,SLC12A3 EXON Missense_R913Q,Missense_R904Q,Missense_R912Q exm1242822 16 56936364 [T/C] NM_000339,NM_001126108,NM_001126107 SLC12A3,SLC12A3,SLC12A3 EXON Missense_R943W,Missense_R934W,Missense_R942W exm1242823 16 56936365 [A/G] NM_000339,NM_001126108,NM_001126107 SLC12A3,SLC12A3,SLC12A3 EXON Missense_R943Q,Missense_R934Q,Missense_R942Q exm1242824 16 56936367 [T/C] NM_000339,NM_001126108,NM_001126107 SLC12A3,SLC12A3,SLC12A3 EXON Missense_R944W,Missense_R935W,Missense_R943W exm1242827 16 56936421 [T/G] NM_000339,NM_001126108,NM_001126107 SLC12A3,SLC12A3,SLC12A3 Silent,Silent,Silent exm1242834 16 56947181 [T/C] NM_000339,NM_001126108,NM_001126107 SLC12A3,SLC12A3,SLC12A3 EXON Missense_L986S,Missense_L977S,Missense_L985S exm1242836 16 56947205 [A/G] NM_000339,NM_001126108,NM_001126107 SLC12A3,SLC12A3,SLC12A3 EXON Missense_C994Y,Missense_C985Y,Missense_C993Y exm1242852 16 56969148 [A/G] NM_001010990,NM_014685,NM_001272103,NM_001010989 HERPUD1,HERPUD1,HERPUD1,HERPUD1 EXON Missense_R50H,Missense_R50H,Missense_R50H,Missense_R50H exm1242858 16 56969380 [A/G] NM_001010990,NM_014685,NM_001272103,NM_001010989 HERPUD1,HERPUD1,HERPUD1,HERPUD1 EXON Silent,Missense_N98S,Missense_N98S,Missense_N97S exm1242874 16 56973986 [A/G] NM_001010990,NM_014685,NM_001272103,NM_001010989 HERPUD1,HERPUD1,HERPUD1,HERPUD1 EXON Missense_R220Q,Missense_R245Q,Missense_R245Q,Missense_R244Q exm1242884 16 56976111 [C/G] NM_001010990,NM_014685,NM_001272103,NM_001010989 HERPUD1,HERPUD1,HERPUD1,HERPUD1 EXON Missense_P300A,Missense_P325A,Synonymous_L272L,Missense_P324A exm1242887 16 56976117 [A/G] NM_001010990,NM_014685,NM_001272103,NM_001010989 HERPUD1,HERPUD1,HERPUD1,HERPUD1 EXON Missense_V302I,Missense_V327I,Synonymous_T274T,Missense_V326I exm1242890 16 56977087 [C/G] NM_001010990,NM_014685,NM_001272103,NM_001010989 HERPUD1,HERPUD1,HERPUD1,HERPUD1 EXON Missense_R329T,Missense_R354T,Silent,Missense_R353T exm-rs173539 16 56988044 [T/C] exm-rs247616 16 56989590 [T/C] exm-rs3764261 16 56993324 [A/C] exm-rs1800775 16 56995236 [A/C] exm1242903 16 56995908 [A/T] NM_000078 CETP EXON Missense_V6D exm1242904 16 56995935 [C/G] NM_000078 CETP EXON Missense_A15G exm1242914 16 56996937 [T/C] NM_000078 CETP EXON Missense_A45V exm1242919 16 56997025 [T/G] NM_000078 CETP EXON Nonsense_Y74X exm-rs9939224 16 57002732 [T/G] NM_000078 CETP Silent exm1242939 16 57003846 [T/C] NM_000078 CETP EXON Missense_R154W exm-rs1532624 16 57005479 [A/C] NM_000078 CETP Silent exm1242953 16 57005908 [A/C] NM_000078 CETP EXON Missense_S221R exm-rs7499892 16 57006590 [T/C] NM_000078 CETP Silent exm1242967 16 57007387 [T/C] NM_000078 CETP EXON Missense_R299C exm1242971 16 57009022 [A/G] NM_000078 CETP EXON Missense_E314K exm1242973 16 57012012 [A/G] NM_000078 CETP EXON Missense_G331S exm1242975 16 57012039 [A/G] NM_000078 CETP EXON Missense_V340I exm1861738 16 57012094 [A/G] NM_000078 CETP EXON Missense_N358S exm1242983 16 57015076 [A/G] NM_000078 CETP EXON Missense_V385M exm1242986 16 57015091 [C/G] NM_000078 CETP EXON Missense_A390P exm2224984 16 57016086 [A/G] NM_000078 CETP EXON Missense_E420K exm1242998 16 57016092 [A/G] NM_000078 CETP EXON Missense_V422I exm1243004 16 57017292 [A/G] NM_000078 CETP EXON Missense_D459G exm-rs16965039 16 57047299 [T/C] exm2272382 16 57057619 [T/G] NM_032206 NLRC5 Silent exm1243037 16 57059280 [T/A] NM_032206 NLRC5 EXON Missense_E142V exm1243038 16 57059310 [A/G] NM_032206 NLRC5 EXON Missense_R152Q exm1243039 16 57059318 [A/G] NM_032206 NLRC5 EXON Missense_A155T exm1243044 16 57059427 [T/C] NM_032206 NLRC5 EXON Missense_P191L exm1243050 16 57059484 [T/C] NM_032206 NLRC5 EXON Missense_S210L exm1243070 16 57059999 [A/G] NM_032206 NLRC5 EXON Missense_A382T exm1243071 16 57060009 [T/C] NM_032206 NLRC5 EXON Missense_S385L exm1243080 16 57060136 [T/G] NM_032206 NLRC5 EXON Missense_Q427H exm1861774 16 57060201 [T/C] NM_032206 NLRC5 EXON Missense_P449L exm1243087 16 57060264 [T/C] NM_032206 NLRC5 EXON Missense_T470I exm1243088 16 57060272 [G/C] NM_032206 NLRC5 EXON Missense_V473L exm1243089 16 57060321 [T/C] NM_032206 NLRC5 EXON Missense_A489V exm1243093 16 57060353 [T/C] NM_032206 NLRC5 EXON Missense_C500R exm1243097 16 57060474 [A/G] NM_032206 NLRC5 EXON Missense_Y540C exm1243116 16 57060914 [A/C] NM_032206 NLRC5 EXON Missense_Q687K exm1243127 16 57063711 [A/G] NM_032206 NLRC5 EXON Missense_Q757R exm1243128 16 57063752 [T/C] NM_032206 NLRC5 EXON Missense_R771W exm1243137 16 57067541 [A/G] NM_032206 NLRC5 EXON Missense_G835S exm1243143 16 57068106 [A/G] NM_032206 NLRC5 EXON Missense_H857R exm1243154 16 57071114 [A/G] NM_032206 NLRC5 EXON Missense_N907D exm1243158 16 57071166 [T/C] NM_032206 NLRC5 EXON Missense_A924V exm1243168 16 57074593 [T/A] NM_032206 NLRC5 EXON Missense_M968L exm1243173 16 57075470 [T/G] NM_032206 NLRC5 EXON Missense_G1005C exm1243177 16 57075961 [A/G] NM_032206 NLRC5 EXON Missense_A1033T exm1243178 16 57075962 [A/C] NM_032206 NLRC5 EXON Missense_A1033D exm1243181 16 57077458 [A/G] NM_032206 NLRC5 EXON Missense_V1049M exm1243183 16 57077504 [A/G] NM_032206 NLRC5 EXON Missense_R1064H exm1243195 16 57080528 [A/C] NM_032206 NLRC5 EXON Missense_Q1105K exm1243197 16 57081458 [T/C] NM_032206 NLRC5 EXON Missense_L1114F exm1243200 16 57081494 [T/C] NM_032206 NLRC5 EXON Missense_R1126C exm2276448 16 57088996 [A/G] NM_032206 NLRC5 EXON Missense_V1217M exm1243226 16 57091977 [T/C] NM_032206 NLRC5 EXON Synonymous_D1249D exm1243227 16 57091999 [A/G] NM_032206 NLRC5 EXON Missense_D1257N exm1243232 16 57092952 [A/G] NM_032206 NLRC5 EXON Missense_R1300H exm1243235 16 57093436 [T/G] NM_032206 NLRC5 EXON Missense_K1326N exm1243239 16 57095409 [A/G] NM_032206 NLRC5 EXON Missense_G1346S exm1243240 16 57095434 [T/C] NM_032206 NLRC5 EXON Missense_T1354M exm1243250 16 57099155 [A/G] NM_032206 NLRC5 EXON Missense_V1396I exm1243253 16 57100453 [A/G] NM_032206 NLRC5 EXON Missense_E1417K exm1243254 16 57100493 [A/G] NM_032206 NLRC5 EXON Missense_R1430H exm1243257 16 57101340 [T/C] NM_032206 NLRC5 EXON Missense_V1455A exm1243260 16 57101373 [A/G] NM_032206 NLRC5 EXON Missense_Q1466R exm1243285 16 57111644 [A/G] NM_032206 NLRC5 EXON Missense_S1645G exm2224992 16 57111699 [A/G] NM_032206 NLRC5 EXON Missense_R1663H exm1243293 16 57112967 [A/C] NM_032206 NLRC5 EXON Missense_P1696Q exm1243297 16 57113168 [A/G] NM_032206 NLRC5 EXON Missense_R1734H exm1861895 16 57115500 [A/G] NM_032206 NLRC5 EXON Missense_G1823R exm1243317 16 57116375 [A/G] NM_032206 NLRC5 EXON Missense_S1846G exm2272438 16 57140438 [T/G] NM_152727 CPNE2 Silent exm1243326 16 57144701 [T/C] NM_152727 CPNE2 EXON Missense_P16L exm1243330 16 57144813 [G/C] NM_152727 CPNE2 EXON Missense_E53D exm1243334 16 57147265 [G/C] NM_152727 CPNE2 EXON Missense_D82E exm1243361 16 57155053 [A/G] NM_152727 CPNE2 EXON Missense_E244K exm1243379 16 57159832 [A/G] NM_152727 CPNE2 EXON Missense_I330V exm1243391 16 57171141 [A/G] NM_152727 CPNE2 EXON Missense_V417I exm1243400 16 57180033 [A/G] NM_152727 CPNE2 EXON Missense_I447V exm1243425 16 57188379 [T/A] NM_024946 FAM192A EXON Missense_S196R exm2252636 16 57188397 [A/G] NM_024946 FAM192A EXON Synonymous_L190L exm1243479 16 57261344 [A/G] NM_133368 RSPRY1 EXON Missense_I418V exm1243480 16 57264631 [T/G] NM_133368 RSPRY1 EXON Missense_V428L exm1243481 16 57264653 [A/G] NM_133368 RSPRY1 EXON Missense_N435S exm1243497 16 57282555 [T/C] NM_012106 ARL2BP EXON Synonymous_Y69Y exm1243498 16 57282556 [A/G] NM_012106 ARL2BP Silent exm1243500 16 57283730 [A/G] NM_012106 ARL2BP EXON Missense_E87K exm1243519 16 57290926 [T/C] NM_015993 PLLP EXON Missense_V150M exm1243521 16 57290941 [A/G] NM_015993 PLLP EXON Missense_F145L exm1243523 16 57292385 [T/C] NM_015993 PLLP EXON Missense_A141T exm1243530 16 57292435 [A/G] NM_015993 PLLP EXON Missense_A124V exm1243539 16 57295927 [A/G] NM_015993 PLLP EXON Missense_P64L exm1243549 16 57392733 [A/C] NM_002990 CCL22 EXON Missense_D2A exm1243554 16 57392765 [A/G] NM_002990 CCL22 EXON Missense_V13I exm1243564 16 57394388 [A/G] NM_002990 CCL22 EXON Missense_R38H exm1243565 16 57394393 [T/C] NM_002990 CCL22 EXON Missense_Y40H exm1243575 16 57394457 [T/C] NM_002990 CCL22 EXON Missense_P61L exm1243585 16 57406488 [T/C] NM_002996 CX3CL1 EXON Missense_P3L exm2252637 16 57406501 [A/G] NM_002996 CX3CL1 EXON Synonymous_S7S exm1243591 16 57406512 [A/G] NM_002996 CX3CL1 EXON Missense_R11H exm1243603 16 57413660 [T/C] NM_002996 CX3CL1 EXON Missense_A62V exm2252638 16 57416023 [T/C] NM_002996 CX3CL1 EXON Synonymous_R91R exm1243618 16 57416102 [A/G] NM_002996 CX3CL1 EXON Missense_A118T exm1243624 16 57416231 [A/G] NM_002996 CX3CL1 EXON Missense_V161M exm1243627 16 57416265 [T/C] NM_002996 CX3CL1 EXON Missense_T172M exm1243631 16 57416374 [G/C] NM_002996 CX3CL1 EXON Missense_S208R exm1243633 16 57416454 [A/C] NM_002996 CX3CL1 EXON Missense_A235D exm1243634 16 57416469 [T/C] NM_002996 CX3CL1 EXON Missense_A240V exm1243638 16 57416487 [A/G] NM_002996 CX3CL1 EXON Missense_R246H exm1243641 16 57416546 [A/G] NM_002996 CX3CL1 EXON Missense_G266S exm1243655 16 57416892 [A/G] NM_002996 CX3CL1 EXON Missense_R381H exm1243660 16 57447859 [T/G] NM_002987 CCL17 EXON Missense_K5N exm1243674 16 57449687 [A/G] NM_002987 CCL17 EXON Missense_V67M exm2224997 16 57465112 [A/G] NM_020313 CIAPIN1 EXON Missense_R233W exm1243709 16 57470642 [T/C] NM_020313 CIAPIN1 EXON Missense_N105D exm1243711 16 57470644 [T/G] NM_020313 CIAPIN1 EXON Missense_D104A exm1243719 16 57474687 [C/G] NM_020313 CIAPIN1 EXON Missense_Q52E exm1243721 16 57474701 [A/G] NM_020313 CIAPIN1 EXON Missense_I47T exm1243723 16 57474732 [T/C] NM_020313 CIAPIN1 EXON Missense_G37S exm1243725 16 57474734 [A/G] NM_020313 CIAPIN1 EXON Missense_T36I exm1243740 16 57484957 [G/C] NM_020312 COQ9 EXON Missense_R27G exm1243744 16 57485021 [A/G] NM_020312 COQ9 EXON Missense_D48G exm1243752 16 57486793 [T/G] NM_020312 COQ9 EXON Missense_L108R exm1243760 16 57490504 [A/G] NM_020312 COQ9 EXON Missense_R156Q exm1243764 16 57490557 [G/C] NM_020312 COQ9 EXON Missense_E174Q exm1243766 16 57492176 [G/C] NM_020312 COQ9 EXON Missense_L209V exm1243774 16 57493521 [C/G] NM_020312 COQ9 EXON Missense_N252K exm1243776 16 57493591 [T/C] NM_020312 COQ9 EXON Missense_R276W exm1243777 16 57493600 [A/G] NM_020312 COQ9 EXON Missense_D279N exm1243784 16 57494514 [T/C] NM_020312 COQ9 EXON Missense_T312I exm1243815 16 57503134 [T/C] NM_032940 POLR2C EXON Missense_R106W exm1243820 16 57503205 [A/G] NM_032940 POLR2C EXON Synonymous_P129P exm1243839 16 57504922 [A/G] NM_032940 POLR2C EXON Missense_R240H exm1243848 16 57507401 [C/G] NM_018110 DOK4 EXON Missense_G290A exm1243851 16 57507543 [T/C] NM_018110 DOK4 EXON Missense_E282K exm1243862 16 57507844 [T/C] NM_018110 DOK4 EXON Missense_R236Q exm1243865 16 57507884 [T/C] NM_018110 DOK4 EXON Missense_V223I exm1243879 16 57508885 [T/C] NM_018110 DOK4 EXON Missense_N140S exm1243886 16 57509069 [T/C] NM_018110 DOK4 EXON Missense_D118N exm1243893 16 57509430 [T/C] NM_018110 DOK4 EXON Missense_T93A exm1243898 16 57509485 [A/C] NM_018110 DOK4 EXON Missense_E74D exm1243899 16 57509499 [A/G] NM_018110 DOK4 EXON Missense_R70W exm1243915 16 57546739 [A/G] NM_033212 CCDC102A EXON Missense_R523C exm2252640 16 57549315 [T/C] NM_033212 CCDC102A EXON Synonymous_S487S exm1243921 16 57549338 [C/G] NM_033212 CCDC102A EXON Missense_Q480E exm1243925 16 57550293 [T/C] NM_033212 CCDC102A EXON Missense_R444Q exm1862119 16 57551992 [A/G] NM_033212 CCDC102A EXON Synonymous_F412F exm1243940 16 57552141 [A/G] NM_033212 CCDC102A EXON Missense_R363W exm1243953 16 57552634 [A/G] NM_033212 CCDC102A EXON Missense_A314V exm1243963 16 57559853 [A/G] NM_033212 CCDC102A EXON Missense_R258W exm1243987 16 57562804 [A/G] NM_033212 CCDC102A EXON Missense_R96W exm1243997 16 57596058 [A/C] NM_153837 GPR114 EXON Missense_N18T exm1243998 16 57596063 [A/G] NM_153837 GPR114 EXON Missense_T20A exm1244001 16 57596318 [G/C] NM_153837 GPR114 EXON Missense_S29R exm1244002 16 57596322 [T/A] NM_153837 GPR114 EXON Missense_M31L exm1244010 16 57597147 [T/G] NM_153837 GPR114 EXON Missense_K95N exm1244011 16 57597148 [C/G] NM_153837 GPR114 EXON Missense_R96G exm1244012 16 57597760 [A/G] NM_153837 GPR114 EXON Missense_A100T exm1244022 16 57598947 [A/G] NM_153837 GPR114 EXON Missense_D144G exm1862148 16 57600592 [T/C] NM_153837 GPR114 EXON Missense_R210C exm1244038 16 57601409 [T/G] NM_153837 GPR114 EXON Nonsense_E243X exm1244045 16 57601844 [G/C] NM_153837 GPR114 EXON Missense_L300V exm1244051 16 57601890 [T/C] NM_153837 GPR114 EXON Missense_T315M exm2252641 16 57601891 [A/G] NM_153837 GPR114 EXON Synonymous_T315T exm1244053 16 57601905 [T/C] NM_153837 GPR114 EXON Missense_A320V exm1244060 16 57602000 [T/C] NM_153837 GPR114 EXON Missense_R352C exm1244061 16 57602001 [A/G] NM_153837 GPR114 EXON Missense_R352H exm1244069 16 57604429 [G/C] NM_153837 GPR114 EXON Missense_G397A exm1244070 16 57608738 [A/G] NM_153837 GPR114 EXON Missense_R407Q exm1862169 16 57608887 [A/G] NM_153837 GPR114 EXON Missense_V457I exm1244093 16 57609369 [A/G] NM_153837 GPR114 EXON Nonsense_W502X exm1244095 16 57609388 [T/C] NM_153837 GPR114 EXON Missense_R509C exm1244096 16 57609392 [T/C] NM_153837 GPR114 EXON Missense_S510L exm2260563 16 57613658 [T/C] exm1244106 16 57684213 [T/C] NM_001145770,NM_005682,NM_201524,NM_201525,NM_001145773,NM_001145771,NM_001145772,NM_001145774 GPR56,GPR56,GPR56,GPR56,GPR56,GPR56,GPR56,GPR56 EXON Missense_S5L,Missense_S5L,Missense_S5L,Missense_S5L,Missense_S5L,Missense_S5L,Missense_S5L,Missense_S5L exm1244119 16 57685283 [A/G] NM_001145770,NM_005682,NM_201524,NM_201525,NM_001145773,NM_001145771,NM_001145772,NM_001145774 GPR56,GPR56,GPR56,GPR56,GPR56,GPR56,GPR56,GPR56 EXON Missense_R79Q,Missense_R79Q,Missense_R79Q,Missense_R79Q,Missense_R84Q,Missense_R79Q,Missense_R79Q,Missense_R79Q exm1244126 16 57685448 [T/C] NM_001145770,NM_005682,NM_201524,NM_201525,NM_001145773,NM_001145771,NM_001145772,NM_001145774 GPR56,GPR56,GPR56,GPR56,GPR56,GPR56,GPR56,GPR56 EXON Missense_P134L,Missense_P134L,Missense_P134L,Missense_P134L,Missense_P139L,Missense_P134L,Missense_P134L,Missense_P134L exm1244130 16 57685510 [T/G] NM_001145770,NM_005682,NM_201524,NM_201525,NM_001145773,NM_001145771,NM_001145772,NM_001145774 GPR56,GPR56,GPR56,GPR56,GPR56,GPR56,GPR56,GPR56 EXON Missense_A155S,Missense_A155S,Missense_A155S,Missense_A155S,Missense_A160S,Missense_A155S,Missense_A155S,Missense_A155S exm1244137 16 57687898 [A/G] NM_001145770,NM_005682,NM_201524,NM_201525,NM_001145773,NM_001145771,NM_001145772,NM_001145774 GPR56,GPR56,GPR56,GPR56,GPR56,GPR56,GPR56,GPR56 EXON Synonymous_Q207Q,Synonymous_Q207Q,Synonymous_Q207Q,Synonymous_Q207Q,Synonymous_Q212Q,Synonymous_Q207Q,Synonymous_Q207Q,Synonymous_Q207Q exm1244145 16 57688038 [A/G] NM_001145770,NM_005682,NM_201524,NM_201525,NM_001145773,NM_001145771,NM_001145772,NM_001145774 GPR56,GPR56,GPR56,GPR56,GPR56,GPR56,GPR56,GPR56 EXON Missense_R254Q,Missense_R254Q,Missense_R254Q,Missense_R254Q,Missense_R259Q,Missense_R254Q,Missense_R254Q,Missense_R254Q exm2272383 16 57689028 [T/C] NM_001145770,NM_005682,NM_201524,NM_201525,NM_001145773,NM_001145771,NM_001145772,NM_001145774 GPR56,GPR56,GPR56,GPR56,GPR56,GPR56,GPR56,GPR56 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm1244150 16 57689385 [C/G] NM_001145770,NM_005682,NM_201524,NM_201525,NM_001145773,NM_001145771,NM_001145772,NM_001145774 GPR56,GPR56,GPR56,GPR56,GPR56,GPR56,GPR56,GPR56 EXON Missense_S281R,Missense_S281R,Missense_S281R,Missense_S281R,Missense_S286R,Missense_S281R,Missense_S281R,Missense_S281R exm1244151 16 57689386 [C/G] NM_001145770,NM_005682,NM_201524,NM_201525,NM_001145773,NM_001145771,NM_001145772,NM_001145774 GPR56,GPR56,GPR56,GPR56,GPR56,GPR56,GPR56,GPR56 EXON Missense_G282R,Missense_G282R,Missense_G282R,Missense_G282R,Missense_G287R,Missense_G282R,Missense_G282R,Missense_G282R exm1244153 16 57689805 [A/C] NM_001145770,NM_005682,NM_201524,NM_201525,NM_001145773,NM_001145771,NM_001145772,NM_001145774 GPR56,GPR56,GPR56,GPR56,GPR56,GPR56,GPR56,GPR56 EXON Missense_Q306H,Missense_Q306H,Missense_Q306H,Missense_Q306H,Missense_Q311H,Missense_Q306H,Missense_Q306H,Missense_Q306H exm1244176 16 57691387 [A/G] NM_001145770,NM_005682,NM_201524,NM_201525,NM_001145773,NM_001145771,NM_001145772,NM_001145774 GPR56,GPR56,GPR56,GPR56,GPR56,GPR56,GPR56,GPR56 EXON Missense_A424T,Missense_A424T,Missense_A424T,Missense_A424T,Missense_A429T,Missense_A424T,Missense_A424T,Missense_A424T exm1244190 16 57693453 [G/C] NM_001145770,NM_005682,NM_201524,NM_201525,NM_001145773,NM_001145771,NM_001145772,NM_001145774 GPR56,GPR56,GPR56,GPR56,GPR56,GPR56,GPR56,GPR56 EXON Missense_S472T,Missense_S478T,Missense_S472T,Missense_S472T,Missense_S477T,Missense_S478T,Missense_S472T,Missense_S472T exm1244192 16 57693498 [T/C] NM_001145770,NM_005682,NM_201524,NM_201525,NM_001145773,NM_001145771,NM_001145772,NM_001145774 GPR56,GPR56,GPR56,GPR56,GPR56,GPR56,GPR56,GPR56 EXON Missense_M487T,Missense_M493T,Missense_M487T,Missense_M487T,Missense_M492T,Missense_M493T,Missense_M487T,Missense_M487T exm1244214 16 57695760 [C/G] NM_001145770,NM_005682,NM_201524,NM_201525,NM_001145773,NM_001145771,NM_001145772,NM_001145774 GPR56,GPR56,GPR56,GPR56,GPR56,GPR56,GPR56,GPR56 EXON Missense_L606V,Missense_L612V,Missense_L606V,Missense_L606V,Missense_L611V,Missense_L612V,Missense_L606V,Missense_L606V exm1244226 16 57702274 [T/G] NM_170776 GPR97 EXON Missense_R5S exm1244229 16 57707232 [C/G] NM_170776 GPR97 Silent exm1244233 16 57707296 [A/T] NM_170776 GPR97 EXON Missense_I41N exm1244243 16 57710156 [T/C] NM_170776 GPR97 EXON Missense_T84M exm1244244 16 57710171 [T/C] NM_170776 GPR97 EXON Missense_T89M exm1244257 16 57713096 [A/G] NM_170776 GPR97 EXON Missense_R167Q exm1244265 16 57713186 [T/C] NM_170776 GPR97 EXON Missense_P197L exm1244268 16 57713216 [T/C] NM_170776 GPR97 EXON Missense_P207L exm1244282 16 57714469 [T/C] NM_170776 GPR97 EXON Missense_A274V exm1244300 16 57718325 [A/G] NM_170776 GPR97 EXON Missense_G396S exm2225007 16 57718379 [T/C] NM_170776 GPR97 EXON Missense_R414C exm2225008 16 57719586 [A/G] NM_170776 GPR97 EXON Missense_A430T exm1244307 16 57719607 [T/G] NM_170776 GPR97 EXON Missense_G437C exm1244326 16 57722349 [C/G] NM_170776 GPR97 EXON Missense_Q542H exm1244348 16 57732012 [A/G] NM_032269 CCDC135 EXON Missense_D51N exm1244350 16 57732820 [A/T] NM_032269 CCDC135 EXON Missense_T88S exm1244352 16 57732847 [A/G] NM_032269 CCDC135 EXON Missense_V97M exm1244372 16 57734141 [A/G] NM_032269 CCDC135 EXON Missense_D155N exm1244376 16 57734182 [A/G] NM_032269 CCDC135 EXON Synonymous_P168P exm1244378 16 57735900 [C/G] NM_032269 CCDC135 EXON Missense_C186S exm1244387 16 57738810 [A/T] NM_032269 CCDC135 EXON Missense_V241E exm1244400 16 57741426 [A/G] NM_032269 CCDC135 EXON Missense_V305I exm2225009 16 57741527 [C/G] NM_032269 CCDC135 EXON Missense_I338M exm1244406 16 57741567 [A/C] NM_032269 CCDC135 EXON Missense_Q352K exm1244428 16 57756979 [T/A] NM_032269 CCDC135 EXON Missense_I492L exm1244430 16 57757039 [T/C] NM_032269 CCDC135 EXON Missense_R512C exm1244437 16 57758547 [A/C] NM_032269 CCDC135 EXON Missense_Q520K exm1244456 16 57758727 [T/C] NM_032269 CCDC135 EXON Missense_S580P exm1244457 16 57758732 [A/C] NM_032269 CCDC135 EXON Missense_N581K exm1244458 16 57758736 [T/C] NM_032269 CCDC135 EXON Missense_R583W exm1862305 16 57760031 [A/G] NM_032269 CCDC135 EXON Missense_V604M exm1244462 16 57760040 [T/C] NM_032269 CCDC135 EXON Missense_R607C exm1862306 16 57760086 [A/G] NM_032269 CCDC135 EXON Missense_C622Y exm1244463 16 57760115 [A/C] NM_032269 CCDC135 EXON Missense_R632S exm1244465 16 57760753 [A/G] NM_032269 CCDC135 EXON Missense_M662V exm1244472 16 57761248 [T/C] NM_032269 CCDC135 EXON Missense_A708V exm1244475 16 57761251 [T/C] NM_032269 CCDC135 EXON Missense_A709V exm1244477 16 57761281 [A/C] NM_032269 CCDC135 EXON Missense_T719N exm1244478 16 57761286 [T/C] NM_032269 CCDC135 EXON Missense_R721W exm1244479 16 57761311 [A/G] NM_032269 CCDC135 EXON Missense_R729Q exm1244485 16 57762401 [T/C] NM_032269 CCDC135 EXON Missense_C766R exm1244487 16 57762432 [A/G] NM_032269 CCDC135 EXON Missense_C776Y exm1244492 16 57762486 [A/G] NM_032269 CCDC135 EXON Missense_R794H exm1244496 16 57764895 [T/C] NM_032269 CCDC135 EXON Missense_T815M exm1244499 16 57764937 [G/C] NM_032269 CCDC135 EXON Missense_S829C exm1244501 16 57764957 [T/C] NM_032269 CCDC135 EXON Missense_R836C exm1244502 16 57764958 [A/G] NM_032269 CCDC135 EXON Missense_R836H exm1244504 16 57764973 [G/C] NM_032269 CCDC135 EXON Missense_R841P exm1244506 16 57764982 [A/G] NM_032269 CCDC135 EXON Missense_R844Q exm1862337 16 57775607 [A/G] NM_005886 KATNB1 EXON Missense_V17I exm1244526 16 57778351 [A/G] NM_005886 KATNB1 EXON Missense_T73A exm1244588 16 57787353 [T/C] NM_005886 KATNB1 EXON Missense_R367W exm1244590 16 57787362 [T/C] NM_005886 KATNB1 EXON Missense_R370C exm1244597 16 57787860 [A/G] NM_005886 KATNB1 EXON Missense_R394Q exm1244599 16 57787906 [T/C] NM_005886 KATNB1 EXON Synonymous_D409D exm1244602 16 57788843 [T/C] NM_005886 KATNB1 EXON Synonymous_D410D exm1244609 16 57789053 [G/C] NM_005886 KATNB1 EXON Missense_P440R exm1244612 16 57789091 [T/G] NM_005886 KATNB1 EXON Missense_A453S exm1244622 16 57789288 [T/C] NM_005886 KATNB1 EXON Missense_V483A exm1244629 16 57789754 [T/C] NM_005886 KATNB1 EXON Missense_T523M exm1244650 16 57790805 [T/C] NM_005886 KATNB1 EXON Missense_R639C exm1244660 16 57792815 [A/G] NM_005550,NM_001130100,NM_001130099 KIFC3,KIFC3,KIFC3 EXON Missense_S828L,Silent,Silent exm1244677 16 57794744 [C/G] NM_005550,NM_001130100,NM_001130099 KIFC3,KIFC3,KIFC3 EXON Missense_A709G,Missense_A709G,Missense_A570G exm1244682 16 57794956 [A/G] NM_005550,NM_001130100,NM_001130099 KIFC3,KIFC3,KIFC3 EXON Missense_T667M,Missense_T667M,Missense_T528M exm1244685 16 57794989 [T/C] NM_005550,NM_001130100,NM_001130099 KIFC3,KIFC3,KIFC3 EXON Missense_R656Q,Missense_R656Q,Missense_R517Q exm1244686 16 57794995 [A/G] NM_005550,NM_001130100,NM_001130099 KIFC3,KIFC3,KIFC3 EXON Missense_T654M,Missense_T654M,Missense_T515M exm1244702 16 57796095 [T/C] NM_005550,NM_001130100,NM_001130099 KIFC3,KIFC3,KIFC3 EXON Missense_T569A,Missense_T569A,Missense_T430A exm2225016 16 57796125 [T/C] NM_005550,NM_001130100,NM_001130099 KIFC3,KIFC3,KIFC3 EXON Missense_V559M,Missense_V559M,Missense_V420M exm2252642 16 57796129 [A/G] NM_005550,NM_001130100,NM_001130099 KIFC3,KIFC3,KIFC3 EXON Synonymous_S557S,Synonymous_S557S,Synonymous_S418S exm1244703 16 57796129 [A/G] NM_005550,NM_001130100,NM_001130099 KIFC3,KIFC3,KIFC3 EXON Synonymous_S557S,Synonymous_S557S,Synonymous_S418S exm1244709 16 57798110 [T/C] NM_005550,NM_001130100,NM_001130099 KIFC3,KIFC3,KIFC3 EXON Missense_N521S,Missense_N521S,Missense_N382S exm1244728 16 57803527 [A/G] NM_005550,NM_001130100,NM_001130099 KIFC3,KIFC3,KIFC3 EXON Missense_L400F,Missense_L400F,Missense_L261F exm1244731 16 57803559 [A/C] NM_005550,NM_001130100,NM_001130099 KIFC3,KIFC3,KIFC3 EXON Missense_V389G,Missense_V389G,Missense_V250G exm1244734 16 57803635 [T/C] NM_005550,NM_001130100,NM_001130099 KIFC3,KIFC3,KIFC3 EXON Missense_V364I,Missense_V364I,Missense_V225I exm2252643 16 57803775 [T/C] NM_005550,NM_001130100,NM_001130099 KIFC3,KIFC3,KIFC3 EXON Synonymous_E344E,Synonymous_E344E,Synonymous_E205E exm1244737 16 57803775 [T/C] NM_005550,NM_001130100,NM_001130099 KIFC3,KIFC3,KIFC3 EXON Synonymous_E344E,Synonymous_E344E,Synonymous_E205E exm1244742 16 57803855 [T/C] NM_005550,NM_001130100,NM_001130099 KIFC3,KIFC3,KIFC3 EXON Missense_E318K,Missense_E318K,Missense_E179K exm1244826 16 57921800 [T/C] NM_001297 CNGB1 EXON Missense_A1141T exm1244833 16 57921881 [T/C] NM_001297 CNGB1 EXON Missense_A1114T exm1244834 16 57921902 [T/C] NM_001297 CNGB1 EXON Missense_K1107E exm1244836 16 57921917 [A/G] NM_001297 CNGB1 EXON Missense_R1102W exm1244840 16 57921977 [A/G] NM_001297 CNGB1 EXON Missense_R1082C exm1244847 16 57931415 [A/G] NM_001297 CNGB1 EXON Missense_T1043M exm1244849 16 57931428 [T/C] NM_001297 CNGB1 EXON Missense_G1039R exm1244853 16 57931805 [T/C] NM_001297 CNGB1 EXON Missense_R997H exm1244857 16 57935275 [T/A] NM_001297 CNGB1 EXON Missense_N986I exm1244862 16 57935442 [A/G] NM_001297 CNGB1 EXON Missense_A961V exm1244863 16 57935443 [A/C] NM_001297 CNGB1 EXON Missense_A961S exm1244865 16 57935470 [T/C] NM_001297 CNGB1 EXON Missense_V952M exm1244866 16 57935471 [T/G] NM_001297 CNGB1 EXON Missense_D951E exm1244874 16 57937773 [T/C] NM_001297 CNGB1 EXON Missense_R916H exm1244875 16 57937788 [T/C] NM_001297 CNGB1 EXON Missense_K911R exm1244876 16 57937797 [T/C] NM_001297 CNGB1 EXON Missense_K908R exm1244879 16 57937839 [T/C] NM_001297 CNGB1 EXON Missense_R894H exm1244888 16 57938643 [T/C] NM_001297 CNGB1 EXON Missense_G877R exm1244894 16 57938733 [T/C] NM_001297 CNGB1 EXON Missense_G847R exm1244904 16 57945697 [T/G] NM_001297 CNGB1 EXON Missense_L818I exm1244908 16 57945778 [A/C] NM_001297 CNGB1 EXON Missense_V791F exm1244917 16 57949224 [T/G] NM_001297 CNGB1 EXON Missense_L745I exm1244922 16 57950041 [A/G] NM_001297 CNGB1 EXON Missense_R737C exm1244928 16 57951185 [G/C] NM_001297 CNGB1 EXON Missense_G718A exm1244932 16 57951284 [A/G] NM_001297 CNGB1 EXON Missense_P685L exm1244963 16 57954448 [A/G] NM_001297 CNGB1 EXON Synonymous_D548D exm1244965 16 57957189 [A/G] NM_001297 CNGB1 EXON Missense_P544L exm1244967 16 57957216 [A/G] NM_001297 CNGB1 EXON Missense_V535A exm1862505 16 57957231 [C/G] NM_001297 CNGB1 EXON Missense_P530R exm1244970 16 57957240 [A/G] NM_001297 CNGB1 EXON Missense_A527V exm1244979 16 57965683 [A/G] NM_001297 CNGB1 EXON Missense_P491L exm1244980 16 57965773 [A/G] NM_001297 CNGB1 EXON Missense_T461M exm1244985 16 57973401 [A/C] NM_001297 CNGB1 EXON Missense_K435N exm1244989 16 57973489 [T/C] NM_001297 CNGB1 EXON Nonsense_W406X exm1244992 16 57974143 [T/C] NM_001297 CNGB1 EXON Missense_D402N exm1245003 16 57984291 [A/G] NM_001297 CNGB1 EXON Missense_M343T exm1245004 16 57984295 [T/C] NM_001297 CNGB1 EXON Missense_K342E exm1245010 16 57984441 [T/C] NM_001297 CNGB1 EXON Missense_S293N exm1245023 16 57993832 [T/C] NM_001297,NM_001135639 CNGB1,CNGB1 EXON Missense_A241T,Missense_A241T exm1245024 16 57993841 [T/C] NM_001297,NM_001135639 CNGB1,CNGB1 EXON Missense_G238S,Missense_G238S exm1245034 16 57993958 [A/G] NM_001297,NM_001135639 CNGB1,CNGB1 EXON Missense_R199C,Missense_R199C exm1245040 16 57994790 [T/C] NM_001297,NM_001135639 CNGB1,CNGB1 EXON Missense_E163G,Missense_E163G exm1245043 16 57996487 [A/C] NM_001297,NM_001135639 CNGB1,CNGB1 EXON Missense_L147R,Missense_L147R exm1245044 16 57996515 [T/C] NM_001297,NM_001135639 CNGB1,CNGB1 Silent,Silent exm1245049 16 57996883 [C/G] NM_001297,NM_001135639 CNGB1,CNGB1 EXON Missense_A126P,Missense_A126P exm1245055 16 57996960 [T/C] NM_001297,NM_001135639 CNGB1,CNGB1 EXON Missense_R100H,Missense_R100H exm1245059 16 57998092 [T/C] NM_001297,NM_001135639 CNGB1,CNGB1 EXON Missense_A78T,Missense_A78T exm1245062 16 57998399 [T/C] NM_001297,NM_001135639 CNGB1,CNGB1 EXON Missense_S70N,Missense_S70N exm1245065 16 58001069 [A/G] NM_001297,NM_001135639 CNGB1,CNGB1 EXON Missense_P41L,Missense_P41L exm1862543 16 58001142 [A/G] NM_001297,NM_001135639 CNGB1,CNGB1 EXON Missense_R17W,Missense_R17W exm1245071 16 58001180 [T/C] NM_001297,NM_001135639 CNGB1,CNGB1 EXON Nonsense_W4X,Nonsense_W4X exm1245076 16 58010422 [T/C] NM_199046,NM_199456 TEPP,TEPP EXON Missense_I16T,Missense_I16T exm1245079 16 58010499 [T/C] NM_199046,NM_199456 TEPP,TEPP EXON Missense_H42Y,Missense_H42Y exm1245082 16 58011727 [T/C] NM_199046,NM_199456 TEPP,TEPP EXON Missense_R58C,Missense_R58C exm1245090 16 58011805 [T/C] NM_199046,NM_199456 TEPP,TEPP EXON Missense_R84W,Missense_R84W exm1245103 16 58018231 [T/C] NM_199046,NM_199456 TEPP,TEPP EXON Missense_T138I,Missense_T138I exm1245121 16 58019396 [A/G] NM_199046,NM_199456 TEPP,TEPP EXON Missense_S260N,Missense_S233N exm1245148 16 58030656 [A/C] NM_020807 ZNF319 EXON Missense_R505L exm1245154 16 58030741 [A/G] NM_020807 ZNF319 EXON Missense_R477C exm1245173 16 58030911 [A/G] NM_020807 ZNF319 EXON Missense_L420P exm1245177 16 58031057 [T/G] NM_020807 ZNF319 EXON Missense_F371L exm1245184 16 58031363 [T/G] NM_020807 ZNF319 EXON Missense_H269Q exm1245192 16 58031797 [T/C] NM_020807 ZNF319 EXON Missense_V125M exm1245207 16 58032051 [A/G] NM_020807 ZNF319 EXON Missense_T40M exm1245209 16 58032057 [A/G] NM_020807 ZNF319 EXON Missense_P38L exm1245212 16 58032138 [A/G] NM_020807 ZNF319 EXON Missense_T11M exm1245224 16 58036453 [A/G] NM_024598,NM_001204911,NM_001195302 USB1,USB1,USB1 EXON Missense_E57K,Missense_E57K,Missense_E57K exm1245233 16 58043902 [A/G] NM_024598,NM_001204911,NM_001195302 USB1,USB1,USB1 EXON Missense_R112Q,Missense_R112Q,Missense_R112Q exm1245249 16 58052907 [A/G] NM_024598,NM_001195302 USB1,USB1 EXON Missense_C214Y,Missense_C196Y exm1245255 16 58054085 [A/G] NM_024598,NM_001195302 USB1,USB1 EXON Missense_R245H,Missense_R227H exm1245257 16 58054099 [G/C] NM_024598,NM_001195302 USB1,USB1 EXON Missense_Q250E,Missense_Q232E exm1245258 16 58054105 [T/C] NM_024598,NM_001195302 USB1,USB1 EXON Missense_R252C,Missense_R234C exm1245259 16 58054122 [G/C] NM_024598,NM_001195302 USB1,USB1 EXON Missense_N257K,Missense_N239K exm1245267 16 58071385 [T/C] NM_002428 MMP15 EXON Missense_R58W exm1245268 16 58071399 [A/C] NM_002428 MMP15 EXON Nonsense_Y62X exm1245273 16 58071476 [A/G] NM_002428 MMP15 EXON Missense_R88H exm1245275 16 58071511 [A/G] NM_002428 MMP15 EXON Missense_E100K exm1245297 16 58073915 [A/G] NM_002428 MMP15 EXON Missense_K193E exm1245307 16 58074482 [A/G] NM_002428 MMP15 EXON Missense_A264T exm1245309 16 58074513 [A/G] NM_002428 MMP15 EXON Missense_N274S exm1245315 16 58074551 [A/G] NM_002428 MMP15 EXON Missense_D287N exm1245317 16 58074569 [A/G] NM_002428 MMP15 EXON Missense_E293K exm1245319 16 58074601 [T/C] NM_002428 MMP15 EXON Synonymous_Y303Y exm-rs12447804 16 58075282 [T/C] NM_002428 MMP15 Silent exm1245326 16 58075578 [A/G] NM_002428 MMP15 EXON Missense_R323Q exm1245345 16 58076138 [T/C] NM_002428 MMP15 EXON Missense_R390C exm1245347 16 58076168 [A/G] NM_002428 MMP15 EXON Missense_V400I exm1245351 16 58076225 [A/G] NM_002428 MMP15 EXON Missense_I419V exm1245356 16 58076256 [A/G] NM_002428 MMP15 EXON Missense_R429H exm1245373 16 58078952 [A/G] NM_002428 MMP15 EXON Missense_D538N exm1245374 16 58078962 [A/G] NM_002428 MMP15 EXON Missense_R541H exm1245375 16 58078968 [A/G] NM_002428 MMP15 EXON Missense_R543Q exm1245395 16 58079216 [A/G] NM_002428 MMP15 EXON Missense_V626M exm1245398 16 58079268 [T/C] NM_002428 MMP15 EXON Missense_T643I exm1245400 16 58079283 [A/G] NM_002428 MMP15 EXON Missense_Q648R exm1245410 16 58148803 [A/G] NM_013242 C16orf80 EXON Nonsense_R163X exm1245417 16 58149256 [T/C] NM_013242 C16orf80 EXON Missense_G128S exm2252645 16 58201628 [T/C] NM_001896 CSNK2A2 EXON Synonymous_S195S exm1245452 16 58230665 [T/G] NM_001896 CSNK2A2 EXON Missense_N63T exm1245472 16 58287973 [A/T] NM_014157,NM_001142302 CCDC113,CCDC113 EXON Missense_K100N,Silent exm1245480 16 58292273 [T/C] NM_014157,NM_001142302 CCDC113,CCDC113 EXON Missense_A131V,Missense_A77V exm1245481 16 58292303 [A/G] NM_014157,NM_001142302 CCDC113,CCDC113 EXON Missense_S141N,Missense_S87N exm1245482 16 58292348 [A/G] NM_014157,NM_001142302 CCDC113,CCDC113 EXON Missense_K156R,Missense_K102R exm1245484 16 58292380 [T/G] NM_014157,NM_001142302 CCDC113,CCDC113 EXON Missense_A167S,Missense_A113S exm1245487 16 58293780 [A/G] NM_014157,NM_001142302 CCDC113,CCDC113 EXON Missense_R190H,Missense_R136H exm1245498 16 58301385 [G/C] NM_014157,NM_001142302 CCDC113,CCDC113 EXON Missense_S262R,Missense_S208R exm1245517 16 58312534 [T/C] NM_014157,NM_001142302 CCDC113,CCDC113 EXON Missense_I347T,Missense_I293T exm1245519 16 58313594 [T/G] NM_014157,NM_001142302 CCDC113,CCDC113 Silent,Silent exm1245520 16 58313605 [A/G] NM_014157,NM_001142302 CCDC113,CCDC113 EXON Missense_K353R,Missense_K299R exm1245525 16 58313629 [A/G] NM_014157,NM_001142302 CCDC113,CCDC113 EXON Missense_R361Q,Missense_R307Q exm1245533 16 58314135 [T/C] NM_014157,NM_001142302,NM_001080492 CCDC113,CCDC113,PRSS54 EXON Silent,Silent,Missense_S394N exm1245536 16 58314195 [T/C] NM_014157,NM_001142302,NM_001080492 CCDC113,CCDC113,PRSS54 EXON Silent,Silent,Missense_R374K exm1245546 16 58314433 [T/C] NM_014157,NM_001142302,NM_001080492 CCDC113,CCDC113,PRSS54 EXON Silent,Silent,Missense_T295A exm1245559 16 58314598 [T/C] NM_014157,NM_001142302,NM_001080492 CCDC113,CCDC113,PRSS54 EXON Silent,Silent,Missense_V240I exm1245564 16 58318518 [T/G] NM_001080492 PRSS54 EXON Missense_K210N exm1245565 16 58318522 [A/G] NM_001080492 PRSS54 EXON Missense_T209M exm1245566 16 58318532 [T/C] NM_001080492 PRSS54 EXON Missense_G206S exm1245568 16 58318562 [G/C] NM_001080492 PRSS54 EXON Missense_P196A exm1245573 16 58318604 [T/C] NM_001080492 PRSS54 EXON Missense_S182G exm1245580 16 58320066 [T/G] NM_001080492 PRSS54 EXON Missense_N99K exm1245585 16 58324993 [T/C] NM_001080492 PRSS54 EXON Missense_E45K exm1245586 16 58325002 [T/C] NM_001080492 PRSS54 EXON Missense_D42N exm1245597 16 58426545 [A/G] NM_022770,NM_001126129,NM_001126130 GINS3,GINS3,GINS3 EXON Missense_G14R,Missense_G14R,Missense_G14R exm1245601 16 58426663 [C/G] NM_022770,NM_001126129,NM_001126130 GINS3,GINS3,GINS3 EXON Missense_G53A,Missense_G53A,Missense_G53A exm1245610 16 58437167 [A/G] NM_022770,NM_001126129,NM_001126130 GINS3,GINS3,GINS3 EXON Missense_G118R,Missense_G157R,Silent exm2260564 16 58515425 [A/C] NM_020465,NM_001130487,NM_022910 NDRG4,NDRG4,NDRG4 Silent,Silent,Silent exm2272384 16 58529615 [T/C] NM_020465,NM_001130487,NM_022910 NDRG4,NDRG4,NDRG4 Silent,Silent,Silent exm1245642 16 58537768 [T/C] NM_020465,NM_001130487,NM_022910,NM_001242836,NM_001242833,NM_001242835,NR_040072,NM_001242834 NDRG4,NDRG4,NDRG4,NDRG4,NDRG4,NDRG4,NDRG4,NDRG4 EXON Missense_R62C,Missense_R82C,Missense_R62C,Missense_R30C,Missense_R60C,Missense_R30C,Silent,Missense_R48C exm1245659 16 58538309 [A/G] NM_020465,NM_001130487,NM_022910,NM_001242836,NM_001242833,NM_001242835,NR_040072,NM_001242834 NDRG4,NDRG4,NDRG4,NDRG4,NDRG4,NDRG4,NDRG4,NDRG4 EXON Missense_V131M,Missense_V151M,Missense_V131M,Missense_V99M,Missense_V129M,Missense_V99M,Silent,Missense_V117M exm1245668 16 58540356 [A/G] NM_020465,NM_001130487,NM_022910,NM_001242836,NM_001242833,NM_001242835,NR_040072,NM_001242834 NDRG4,NDRG4,NDRG4,NDRG4,NDRG4,NDRG4,NDRG4,NDRG4 EXON Nonsense_W178X,Nonsense_W198X,Nonsense_W178X,Nonsense_W146X,Nonsense_W176X,Nonsense_W146X,Silent,Nonsense_W164X exm1245682 16 58540875 [A/G] NM_020465,NM_001130487,NM_022910,NM_001242836,NM_001242833,NM_001242835,NR_040072,NM_001242834 NDRG4,NDRG4,NDRG4,NDRG4,NDRG4,NDRG4,NDRG4,NDRG4 EXON Synonymous_V224V,Synonymous_V244V,Synonymous_V224V,Synonymous_V192V,Synonymous_V222V,Synonymous_V192V,Silent,Synonymous_V210V exm1245686 16 58541740 [A/G] NM_020465,NM_001130487,NM_022910,NM_001242836,NM_001242833,NM_001242835,NR_040072,NM_001242834 NDRG4,NDRG4,NDRG4,NDRG4,NDRG4,NDRG4,NDRG4,NDRG4 EXON Missense_G249R,Missense_G269R,Missense_G249R,Missense_G217R,Missense_G247R,Missense_G217R,Silent,Missense_G235R exm1245688 16 58541762 [T/C] NM_020465,NM_001130487,NM_022910,NM_001242836,NM_001242833,NM_001242835,NR_040072,NM_001242834 NDRG4,NDRG4,NDRG4,NDRG4,NDRG4,NDRG4,NDRG4,NDRG4 EXON Missense_T256M,Missense_T276M,Missense_T256M,Missense_T224M,Missense_T254M,Missense_T224M,Silent,Missense_T242M exm1245692 16 58541889 [A/G] NM_020465,NM_001130487,NM_022910,NM_001242836,NM_001242833,NM_001242835,NR_040072,NM_001242834 NDRG4,NDRG4,NDRG4,NDRG4,NDRG4,NDRG4,NDRG4,NDRG4 EXON Missense_A271T,Missense_A291T,Missense_A271T,Missense_A239T,Missense_A269T,Missense_A239T,Silent,Missense_A257T exm1245710 16 58545452 [T/C] NM_020465,NM_001130487,NM_022910,NM_001242836,NM_001242833,NM_001242835,NR_040072,NM_001242834 NDRG4,NDRG4,NDRG4,NDRG4,NDRG4,NDRG4,NDRG4,NDRG4 EXON Missense_V363A,Missense_V383A,Missense_V363A,Missense_V331A,Missense_V361A,Missense_V344A,Silent,Missense_V349A exm1245742 16 58550386 [A/G] NM_001160305,NM_024860 SETD6,SETD6 EXON Missense_E161K,Missense_E137K exm1245754 16 58550543 [A/G] NM_001160305,NM_024860 SETD6,SETD6 EXON Missense_Y213C,Missense_Y189C exm1245774 16 58552045 [G/C] NM_001160305,NM_024860 SETD6,SETD6 EXON Missense_H295D,Missense_H271D exm1245783 16 58552349 [A/G] NM_001160305,NM_024860 SETD6,SETD6 EXON Missense_D340N,Missense_D316N exm1245787 16 58552671 [A/G] NM_001160305,NM_024860 SETD6,SETD6 EXON Missense_Q387R,Missense_Q363R exm1245791 16 58552766 [A/T] NM_001160305,NM_024860 SETD6,SETD6 EXON Missense_S419C,Missense_S395C exm1245793 16 58552787 [A/G] NM_001160305,NM_024860 SETD6,SETD6 EXON Missense_T426A,Missense_T402A exm1245795 16 58552823 [C/G] NM_001160305,NM_024860 SETD6,SETD6 EXON Missense_L438V,Missense_L414V exm1245796 16 58552845 [T/C] NM_001160305,NM_024860 SETD6,SETD6 EXON Missense_A445V,Missense_A421V exm1245811 16 58559256 [T/C] NM_001265612,NM_016284,NR_049763 CNOT1,CNOT1,CNOT1 EXON Missense_N2199S,Missense_N2204S,Silent exm1245814 16 58560041 [A/C] NM_001265612,NM_016284,NR_049763 CNOT1,CNOT1,CNOT1 EXON Missense_V2147G,Missense_V2152G,Silent exm1245844 16 58572105 [T/C] NM_001265612,NM_016284,NR_049763 CNOT1,CNOT1,CNOT1 EXON Missense_N1729S,Missense_N1734S,Silent exm1245846 16 58572704 [A/C] NM_001265612,NM_016284,NR_049763 CNOT1,CNOT1,CNOT1 EXON Missense_S1698A,Missense_S1703A,Silent exm1245853 16 58573790 [G/C] NM_001265612,NM_016284,NR_049763 CNOT1,CNOT1,CNOT1 EXON Missense_A1620G,Missense_A1625G,Silent exm1245868 16 58576468 [A/G] NM_001265612,NM_016284,NR_049763 CNOT1,CNOT1,CNOT1 EXON Missense_A1475V,Missense_A1480V,Silent exm1245883 16 58577400 [A/C] NM_001265612,NM_016284,NR_049763,NM_206999 CNOT1,CNOT1,CNOT1,CNOT1 EXON Silent,Silent,Silent,Missense_N1515K exm1245886 16 58577432 [A/G] NM_001265612,NM_016284,NR_049763,NM_206999 CNOT1,CNOT1,CNOT1,CNOT1 EXON Silent,Silent,Silent,Missense_W1505R exm1245887 16 58577467 [G/C] NM_001265612,NM_016284,NR_049763,NM_206999 CNOT1,CNOT1,CNOT1,CNOT1 EXON Silent,Silent,Silent,Missense_C1493S exm1245889 16 58577485 [T/C] NM_001265612,NM_016284,NR_049763,NM_206999 CNOT1,CNOT1,CNOT1,CNOT1 EXON Silent,Silent,Silent,Missense_R1487K exm1245948 16 58592410 [T/C] NM_001265612,NM_016284,NR_049763,NM_206999 CNOT1,CNOT1,CNOT1,CNOT1 EXON Missense_S767G,Missense_S767G,Silent,Missense_S767G exm1245958 16 58594210 [T/C] NM_001265612,NM_016284,NR_049763,NM_206999 CNOT1,CNOT1,CNOT1,CNOT1 EXON Missense_N679S,Missense_N679S,Silent,Missense_N679S exm1245971 16 58610430 [T/C] NM_001265612,NM_016284,NR_049763,NM_206999 CNOT1,CNOT1,CNOT1,CNOT1 EXON Missense_M547I,Missense_M547I,Silent,Missense_M547I exm1245973 16 58612662 [T/C] NM_001265612,NM_016284,NR_049763,NM_206999 CNOT1,CNOT1,CNOT1,CNOT1 EXON Missense_I509V,Missense_I509V,Silent,Missense_I509V exm1245988 16 58616997 [T/C] NM_001265612,NM_016284,NR_049763,NM_206999 CNOT1,CNOT1,CNOT1,CNOT1 EXON Missense_R299Q,Missense_R299Q,Silent,Missense_R299Q exm1245992 16 58619290 [T/C] NM_001265612,NM_016284,NR_049763,NM_206999 CNOT1,CNOT1,CNOT1,CNOT1 EXON Missense_S253N,Missense_S253N,Silent,Missense_S253N exm1246010 16 58621106 [A/G] NM_001265612,NM_016284,NR_049763,NM_206999 CNOT1,CNOT1,CNOT1,CNOT1 EXON Synonymous_F144F,Synonymous_F144F,Silent,Synonymous_F144F exm1246013 16 58621757 [A/G] NM_001265612,NM_016284,NR_049763,NM_206999 CNOT1,CNOT1,CNOT1,CNOT1 EXON Missense_A79V,Missense_A79V,Silent,Missense_A79V exm-rs7188697 16 58622178 [A/G] NM_001265612,NM_016284,NR_049763,NM_206999 CNOT1,CNOT1,CNOT1,CNOT1 Silent,Silent,Silent,Silent exm1246033 16 58705081 [A/G] NM_018231 SLC38A7 EXON Missense_R367W exm1246071 16 58712363 [A/G] NM_018231 SLC38A7 EXON Missense_A162V exm1246086 16 58713798 [A/G] NM_018231 SLC38A7 EXON Missense_T78I exm1246087 16 58713894 [A/G] NM_018231 SLC38A7 EXON Missense_L46P exm1246093 16 58714002 [T/C] NM_018231 SLC38A7 EXON Missense_Y10C exm1246103 16 58742190 [T/C] NM_002080 GOT2 EXON Missense_R393Q exm1246104 16 58742191 [A/G] NM_002080 GOT2 EXON Missense_R393W exm1246113 16 58743401 [T/C] NM_002080 GOT2 EXON Missense_K364E exm1246115 16 58743422 [C/G] NM_002080 GOT2 EXON Missense_Q357E exm1246118 16 58743454 [A/C] NM_002080 GOT2 EXON Missense_V346G exm1246134 16 58752137 [T/C] NM_002080 GOT2 EXON Missense_R222H exm1246136 16 58752439 [T/C] NM_002080 GOT2 EXON Missense_D197N exm1246138 16 58752448 [T/C] NM_002080 GOT2 EXON Missense_A194T exm1246142 16 58752568 [T/C] NM_002080 GOT2 EXON Missense_D154N exm1246144 16 58753104 [A/C] NM_002080 GOT2 EXON Missense_F144C exm1246152 16 58756096 [T/G] NM_002080 GOT2 EXON Missense_E111D exm1246155 16 58756164 [A/C] NM_002080 GOT2 EXON Missense_A89S exm1246159 16 58757654 [T/C] NM_002080 GOT2 EXON Missense_R81H exm-rs12600277 16 58759332 [C/G] NM_002080 GOT2 Silent exm2267893 16 59234017 [A/G] exm2260565 16 59475044 [T/C] exm2267894 16 59505898 [A/G] exm2267945 16 59935397 [A/G] exm2267895 16 60241024 [A/G] exm2267896 16 60598579 [A/G] exm2267946 16 60878008 [A/G] exm-rs1895557 16 61022169 [T/C] exm2252654 16 61046836 [A/G] exm2272385 16 61096516 [T/C] exm-rs2639889 16 61123147 [T/C] exm2272441 16 61461435 [T/C] exm2267897 16 61658014 [A/G] exm1246177 16 61687583 [T/G] NM_001796 CDH8 EXON Missense_S777R exm1246178 16 61687613 [A/C] NM_001796 CDH8 EXON Missense_S767A exm1246192 16 61687915 [T/C] NM_001796 CDH8 EXON Missense_R666H exm1246193 16 61687916 [A/G] NM_001796 CDH8 EXON Missense_R666C exm1246197 16 61689453 [T/A] NM_001796 CDH8 EXON Missense_N609K exm1246199 16 61689477 [A/C] NM_001796 CDH8 EXON Missense_N601K exm1246205 16 61747748 [G/C] NM_001796 CDH8 EXON Missense_E551Q exm1246212 16 61823318 [A/G] NM_001796 CDH8 EXON Missense_T449M exm1246215 16 61851413 [T/C] NM_001796 CDH8 EXON Missense_R416H exm1246225 16 61854877 [T/C] NM_001796 CDH8 EXON Missense_I326V exm1246232 16 61858917 [T/C] NM_001796 CDH8 EXON Synonymous_Q278Q exm1246235 16 61859081 [T/C] NM_001796 CDH8 EXON Missense_I224V exm1246249 16 62055223 [T/C] NM_001796 CDH8 EXON Missense_M29V exm2252657 16 62308742 [T/C] exm-rs11645366 16 62377153 [T/C] exm2272442 16 62585009 [T/G] exm2252658 16 62747830 [A/G] exm2272387 16 63120000 [T/C] exm2260571 16 63120645 [T/G] exm2272388 16 63717319 [T/C] exm-rs1381102 16 63955447 [A/G] exm2260572 16 64044440 [A/G] exm2267899 16 64116270 [A/G] exm2272389 16 64716851 [T/C] exm2272390 16 64886822 [T/C] exm1246269 16 64981824 [G/C] NM_001797 CDH11 EXON Missense_I691M exm1246272 16 64981952 [T/C] NM_001797 CDH11 EXON Missense_I649V exm2252664 16 65005561 [T/C] NM_001797 CDH11 EXON Synonymous_T521T exm1246296 16 65005926 [T/C] NM_001797 CDH11 EXON Missense_V478I exm1246298 16 65005934 [A/G] NM_001797 CDH11 EXON Missense_A475V exm1246299 16 65006831 [A/T] NM_001797 CDH11 EXON Missense_I456F exm1246300 16 65006898 [A/C] NM_001797 CDH11 EXON Missense_I433M exm1246304 16 65015957 [A/G] NM_001797 CDH11 EXON Missense_P416L exm1246312 16 65016087 [A/C] NM_001797 CDH11 EXON Missense_S373A exm1246317 16 65016173 [G/C] NM_001797 CDH11 EXON Missense_S344T exm1863399 16 65022127 [T/C] NM_001797 CDH11 EXON Missense_D311G exm1246332 16 65025718 [A/G] NM_001797 CDH11 EXON Missense_T255M exm1246335 16 65025800 [A/C] NM_001797 CDH11 EXON Missense_A228S exm1863416 16 65038663 [T/C] NM_001797 CDH11 EXON Missense_G37E exm2252667 16 65532244 [T/C] NR_027755 LOC283867 Silent exm2260575 16 65652630 [A/G] exm-rs4785874 16 65928770 [T/C] exm2267900 16 66122316 [A/G] exm2260576 16 66350593 [A/G] exm2252670 16 66413195 [A/G] NM_001795 CDH5 Silent exm1246436 16 66413243 [A/G] NM_001795 CDH5 EXON Missense_M1I exm1246438 16 66413256 [A/G] NM_001795 CDH5 EXON Missense_M6V exm2252671 16 66413312 [T/A] NM_001795 CDH5 EXON Synonymous_A24A exm1246447 16 66413367 [T/C] NM_001795 CDH5 EXON Missense_R43W exm1246448 16 66413371 [A/G] NM_001795 CDH5 EXON Missense_R44H exm1246457 16 66420962 [A/G] NM_001795 CDH5 EXON Missense_R154Q exm1246493 16 66424391 [G/C] NM_001795 CDH5 EXON Missense_Q289H exm1246509 16 66426126 [A/G] NM_001795 CDH5 EXON Missense_A353T exm1246512 16 66426144 [A/G] NM_001795 CDH5 EXON Missense_V359I exm1246516 16 66429967 [C/G] NM_001795 CDH5 EXON Missense_S408C exm1246517 16 66429973 [A/G] NM_001795 CDH5 EXON Missense_R410H exm1246527 16 66432381 [T/C] NM_001795 CDH5 EXON Missense_I503T exm1246530 16 66432423 [T/C] NM_001795 CDH5 EXON Missense_I517T exm1246534 16 66432463 [T/C] NM_001795 CDH5 EXON Synonymous_H530H exm1246543 16 66434776 [A/G] NM_001795 CDH5 EXON Missense_R565H exm1246546 16 66434799 [A/G] NM_001795 CDH5 EXON Missense_V573M exm1246553 16 66436591 [A/G] NM_001795 CDH5 EXON Missense_R625Q exm1246562 16 66436720 [A/G] NM_001795 CDH5 EXON Missense_R668H exm1246563 16 66436722 [A/G] NM_001795 CDH5 EXON Missense_G669S exm2274844 16 66511561 [A/G] NM_001178020,NM_001136106,NM_001197224,NM_001197225 BEAN1,BEAN1,BEAN1,BEAN1 EXON Missense_G130R,Missense_G21R,Missense_G21R,Missense_G21R exm2225063 16 66527099 [A/G] NM_001197224,NM_001197225 BEAN1,BEAN1 EXON Silent,Missense_K128E exm1246591 16 66527192 [A/G] NM_001197224,NM_001197225 BEAN1,BEAN1 EXON Silent,Missense_G159R exm1246597 16 66545906 [T/C] NR_073520,NM_001271935,NM_001271934,NM_001172644,NM_001272050,NM_004614,NM_001172645,NM_001172643 TK2,TK2,TK2,TK2,TK2,TK2,TK2,TK2 EXON Silent,Silent,Missense_I206V,Missense_I230V,Missense_I158V,Missense_I255V,Missense_I237V,Missense_I224V exm1246604 16 66547713 [A/T] NR_073520,NM_001271935,NM_001271934,NM_001172644,NM_001272050,NM_004614,NM_001172645,NM_001172643 TK2,TK2,TK2,TK2,TK2,TK2,TK2,TK2 EXON Silent,Missense_N120Y,Missense_E158V,Missense_E182V,Missense_E110V,Missense_E207V,Missense_E189V,Missense_E176V exm1246609 16 66551110 [A/G] NR_073520,NM_001271935,NM_001271934,NM_001172644,NM_001272050,NM_004614,NM_001172645,NM_001172643 TK2,TK2,TK2,TK2,TK2,TK2,TK2,TK2 EXON Silent,Silent,Missense_R134W,Missense_R158W,Missense_R86W,Missense_R183W,Missense_R165W,Missense_R152W exm1246610 16 66551710 [T/C] NR_073520,NM_001271935,NM_001271934,NM_001172644,NM_001272050,NM_004614,NM_001172645,NM_001172643 TK2,TK2,TK2,TK2,TK2,TK2,TK2,TK2 EXON Silent,Silent,Missense_V125M,Missense_V149M,Missense_V77M,Missense_V174M,Missense_V156M,Missense_V143M exm1246639 16 66586674 [T/G] NM_181641,NM_181640,NM_001204098,NM_001204099,NM_016951,NM_016326,NM_001040138,NM_001202509 CKLF,CKLF,CKLF-CMTM1,CKLF-CMTM1,CKLF,CKLF,CKLF,CKLF-CMTM1 EXON Missense_G19V,Missense_G19V,Missense_G19V,Missense_G19V,Missense_G19V,Missense_G19V,Missense_G19V,Missense_G19V exm1246641 16 66592144 [T/C] NM_181641,NM_181640,NM_001204098,NM_001204099,NM_016951,NM_016326,NM_001040138,NM_001202509 CKLF,CKLF,CKLF-CMTM1,CKLF-CMTM1,CKLF,CKLF,CKLF,CKLF-CMTM1 EXON Missense_P44S,Silent,Silent,Missense_P44S,Missense_P44S,Silent,Missense_P44S,Silent exm1246657 16 66600444 [T/A] NM_001204098,NM_001204099,NM_001202509,NM_181272,NM_181283,NM_181296,NM_181271,NM_181270,NM_181269,NM_181268,NM_052999 CKLF-CMTM1,CKLF-CMTM1,CKLF-CMTM1,CMTM1,CMTM1,CMTM1,CMTM1,CMTM1,CMTM1,CMTM1,CMTM1 EXON Silent,Silent,Silent,Missense_S10T,Missense_S10T,Missense_S10T,Missense_S10T,Missense_S10T,Missense_S10T,Missense_S10T,Missense_S10T exm1246660 16 66600498 [T/G] NM_001204098,NM_001204099,NM_001202509,NM_181272,NM_181283,NM_181296,NM_181271,NM_181270,NM_181269,NM_181268,NM_052999 CKLF-CMTM1,CKLF-CMTM1,CKLF-CMTM1,CMTM1,CMTM1,CMTM1,CMTM1,CMTM1,CMTM1,CMTM1,CMTM1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_A28S,Silent,Silent,Missense_A28S,Missense_A28S exm2225064 16 66600673 [C/G] NM_001204098,NM_001204099,NM_001202509,NM_181272,NM_181283,NM_181296,NM_181271,NM_181270,NM_181269,NM_181268,NM_052999 CKLF-CMTM1,CKLF-CMTM1,CKLF-CMTM1,CMTM1,CMTM1,CMTM1,CMTM1,CMTM1,CMTM1,CMTM1,CMTM1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_P86R,Missense_P86R exm1246691 16 66611105 [A/G] NM_001204098,NM_001204099,NM_001202509,NM_181272,NM_181283,NM_181296,NM_181271,NM_181270,NM_181269,NM_181268,NM_052999 CKLF-CMTM1,CKLF-CMTM1,CKLF-CMTM1,CMTM1,CMTM1,CMTM1,CMTM1,CMTM1,CMTM1,CMTM1,CMTM1 EXON Synonymous_G91G,Synonymous_G112G,Synonymous_G59G,Synonymous_G60G,Synonymous_G60G,Silent,Synonymous_G66G,Synonymous_G113G,Synonymous_G113G,Synonymous_G230G,Synonymous_G230G exm1246700 16 66612836 [A/G] NM_001204098,NM_001204099,NM_001202509,NM_181272,NM_181283,NM_181296,NM_181271,NM_181270,NM_181269,NM_181268,NM_052999 CKLF-CMTM1,CKLF-CMTM1,CKLF-CMTM1,CMTM1,CMTM1,CMTM1,CMTM1,CMTM1,CMTM1,CMTM1,CMTM1 EXON Silent,Missense_R147G,Missense_R94G,Missense_R95G,Silent,Silent,Missense_R101G,Silent,Missense_R148G,Silent,Missense_R265G exm1246701 16 66612837 [A/G] NM_001204098,NM_001204099,NM_001202509,NM_181272,NM_181283,NM_181296,NM_181271,NM_181270,NM_181269,NM_181268,NM_052999 CKLF-CMTM1,CKLF-CMTM1,CKLF-CMTM1,CMTM1,CMTM1,CMTM1,CMTM1,CMTM1,CMTM1,CMTM1,CMTM1 EXON Silent,Missense_R147K,Missense_R94K,Missense_R95K,Silent,Silent,Missense_R101K,Silent,Missense_R148K,Silent,Missense_R265K exm1246707 16 66613560 [A/C] NM_001199317,NM_144673 CMTM2,CMTM2 EXON Missense_P17Q,Missense_P17Q exm1246711 16 66613691 [A/G] NM_001199317,NM_144673 CMTM2,CMTM2 EXON Missense_E61K,Missense_E61K exm1246714 16 66613724 [T/C] NM_001199317,NM_144673 CMTM2,CMTM2 EXON Missense_R72W,Missense_R72W exm1246717 16 66613767 [T/G] NM_001199317,NM_144673 CMTM2,CMTM2 EXON Missense_G86V,Missense_G86V exm1246721 16 66613989 [T/C] NM_001199317,NM_144673 CMTM2,CMTM2 EXON Silent,Missense_L116F exm1246722 16 66614008 [T/C] NM_001199317,NM_144673 CMTM2,CMTM2 EXON Silent,Missense_I122T exm1246730 16 66620966 [T/C] NM_001199317,NM_144673 CMTM2,CMTM2 EXON Missense_R118W,Missense_R171W exm1246772 16 66651238 [A/G] NM_178818,NM_181521 CMTM4,CMTM4 EXON Missense_T216I,Silent exm1246778 16 66655964 [T/C] NM_178818,NM_181521 CMTM4,CMTM4 EXON Silent,Synonymous_T208T exm1246782 16 66656034 [T/C] NM_178818,NM_181521 CMTM4,CMTM4 EXON Missense_N185S,Missense_N185S exm1246784 16 66656053 [T/C] NM_178818,NM_181521 CMTM4,CMTM4 EXON Missense_V179I,Missense_V179I exm1246793 16 66670308 [T/G] NM_178818,NM_181521 CMTM4,CMTM4 EXON Synonymous_T121T,Synonymous_T121T exm1246795 16 66670373 [T/C] NM_178818,NM_181521 CMTM4,CMTM4 EXON Missense_V100I,Missense_V100I exm1246797 16 66670457 [T/C] NM_178818,NM_181521 CMTM4,CMTM4 EXON Missense_I72V,Missense_I72V exm1246806 16 66757660 [T/C] NM_006141 DYNC1LI2 EXON Missense_M482V exm1246807 16 66757678 [T/C] NM_006141 DYNC1LI2 EXON Missense_T476A exm1246835 16 66768145 [A/G] NM_006141 DYNC1LI2 EXON Missense_H257Y exm1246837 16 66768207 [A/G] NM_006141 DYNC1LI2 EXON Missense_A236V exm1246864 16 66788941 [A/C] NM_001136505 CCDC79 EXON Missense_A708S exm1246865 16 66788947 [A/G] NM_001136505 CCDC79 EXON Missense_R706W exm1246867 16 66792714 [T/C] NM_001136505 CCDC79 EXON Missense_Q653R exm1246877 16 66804108 [T/G] NM_001136505 CCDC79 EXON Missense_S459R exm1246879 16 66804115 [T/C] NM_001136505 CCDC79 EXON Missense_R457Q exm1246889 16 66819730 [T/C] NM_001136505 CCDC79 EXON Missense_R220H exm1246901 16 66836988 [G/C] NM_003905,NM_001018159,NM_001018160 NAE1,NAE1,NAE1 EXON Missense_T510S,Missense_T504S,Missense_T421S exm1863599 16 66839857 [T/C] NM_003905,NM_001018159,NM_001018160 NAE1,NAE1,NAE1 EXON Missense_Y468C,Missense_Y462C,Missense_Y379C exm1246919 16 66847575 [T/C] NM_003905,NM_001018159,NM_001018160 NAE1,NAE1,NAE1 EXON Missense_R309H,Missense_R303H,Missense_R220H exm2225070 16 66847708 [C/G] NM_003905,NM_001018159,NM_001018160 NAE1,NAE1,NAE1 EXON Missense_C294W,Missense_C288W,Missense_C205W exm1246942 16 66857187 [T/C] NM_003905,NM_001018159,NM_001018160 NAE1,NAE1,NAE1 EXON Missense_N115S,Missense_N109S,Missense_N26S exm1246944 16 66857451 [A/G] NM_003905,NM_001018159,NM_001018160 NAE1,NAE1,NAE1 EXON Missense_S101F,Missense_S95F,Missense_S12F exm1246969 16 66880957 [A/T] NM_005182,NM_001014435 CA7,CA7 EXON Missense_Y22F,Silent exm2272392 16 66892324 [T/C] exm1246998 16 66918260 [T/C] NM_020786 PDP2 EXON Missense_R25C exm1247007 16 66918452 [A/G] NM_020786 PDP2 EXON Missense_G89S exm1247015 16 66918668 [A/G] NM_020786 PDP2 EXON Missense_A161T exm1247016 16 66918672 [T/C] NM_020786 PDP2 EXON Missense_V162A exm1247027 16 66919072 [C/G] NM_020786 PDP2 EXON Missense_E295D exm1247032 16 66919208 [A/G] NM_020786 PDP2 EXON Missense_V341I exm1247038 16 66919269 [A/G] NM_020786 PDP2 EXON Missense_R361H exm1247041 16 66919325 [C/G] NM_020786 PDP2 EXON Missense_P380A exm1247051 16 66919532 [C/G] NM_020786 PDP2 EXON Missense_G449R exm1247057 16 66919604 [T/C] NM_020786 PDP2 EXON Missense_R473W exm1863648 16 66919605 [A/G] NM_020786 PDP2 EXON Missense_R473Q exm1247061 16 66919665 [C/G] NM_020786 PDP2 EXON Missense_A493G exm1247062 16 66919667 [A/G] NM_020786 PDP2 EXON Missense_A494T exm1247067 16 66919745 [A/G] NM_020786 PDP2 EXON Missense_E520K exm1247077 16 66942338 [A/G] NM_001204744,NM_001204746,NM_004062,NM_001204745 CDH16,CDH16,CDH16,CDH16 EXON Missense_P794L,Missense_P719L,Missense_P816L,Missense_P777L exm1247080 16 66943190 [A/G] NM_001204744,NM_001204746,NM_004062,NM_001204745 CDH16,CDH16,CDH16,CDH16 EXON Missense_V769A,Missense_V694A,Missense_V791A,Missense_V752A exm1247088 16 66943260 [T/C] NM_001204744,NM_001204746,NM_004062,NM_001204745 CDH16,CDH16,CDH16,CDH16 EXON Missense_G746R,Missense_G671R,Missense_G768R,Missense_G729R exm1247095 16 66943941 [T/C] NM_001204744,NM_001204746,NM_004062,NM_001204745 CDH16,CDH16,CDH16,CDH16 EXON Missense_I719M,Missense_I644M,Missense_I741M,Missense_I702M exm1247098 16 66944180 [T/C] NM_001204744,NM_001204746,NM_004062,NM_001204745 CDH16,CDH16,CDH16,CDH16 EXON Missense_R695H,Missense_R620H,Missense_R717H,Missense_R678H exm1247106 16 66944260 [C/G] NM_001204744,NM_001204746,NM_004062,NM_001204745 CDH16,CDH16,CDH16,CDH16 EXON Missense_S668R,Missense_S593R,Missense_S690R,Missense_S651R exm1247107 16 66944325 [A/G] NM_001204744,NM_001204746,NM_004062,NM_001204745 CDH16,CDH16,CDH16,CDH16 EXON Missense_P647S,Missense_P572S,Missense_P669S,Silent exm2225077 16 66945862 [A/G] NM_001204744,NM_001204746,NM_004062,NM_001204745 CDH16,CDH16,CDH16,CDH16 EXON Missense_A577V,Missense_A480V,Missense_A577V,Missense_A577V exm1247129 16 66945866 [T/C] NM_001204744,NM_001204746,NM_004062,NM_001204745 CDH16,CDH16,CDH16,CDH16 EXON Missense_S576G,Missense_S479G,Missense_S576G,Missense_S576G exm1247144 16 66946243 [A/G] NM_001204744,NM_001204746,NM_004062,NM_001204745 CDH16,CDH16,CDH16,CDH16 EXON Missense_R484C,Missense_R387C,Missense_R484C,Missense_R484C exm1247145 16 66946255 [T/C] NM_001204744,NM_001204746,NM_004062,NM_001204745 CDH16,CDH16,CDH16,CDH16 EXON Missense_E480K,Missense_E383K,Missense_E480K,Missense_E480K exm1247153 16 66946435 [T/C] NM_001204744,NM_001204746,NM_004062,NM_001204745 CDH16,CDH16,CDH16,CDH16 EXON Missense_D444G,Missense_D347G,Missense_D444G,Missense_D444G exm1247155 16 66946457 [T/C] NM_001204744,NM_001204746,NM_004062,NM_001204745 CDH16,CDH16,CDH16,CDH16 EXON Missense_V437I,Missense_V340I,Missense_V437I,Missense_V437I exm1247158 16 66946471 [A/G] NM_001204744,NM_001204746,NM_004062,NM_001204745 CDH16,CDH16,CDH16,CDH16 EXON Missense_T432M,Missense_T335M,Missense_T432M,Missense_T432M exm1247161 16 66946591 [T/C] NM_001204744,NM_001204746,NM_004062,NM_001204745 CDH16,CDH16,CDH16,CDH16 EXON Missense_M420V,Missense_M323V,Missense_M420V,Missense_M420V exm1247167 16 66946696 [T/C] NM_001204744,NM_001204746,NM_004062,NM_001204745 CDH16,CDH16,CDH16,CDH16 EXON Missense_G385R,Missense_G288R,Missense_G385R,Missense_G385R exm1247180 16 66947072 [T/C] NM_001204744,NM_001204746,NM_004062,NM_001204745 CDH16,CDH16,CDH16,CDH16 EXON Missense_R339H,Missense_R242H,Missense_R339H,Missense_R339H exm1247182 16 66947091 [T/C] NM_001204744,NM_001204746,NM_004062,NM_001204745 CDH16,CDH16,CDH16,CDH16 EXON Missense_V333M,Missense_V236M,Missense_V333M,Missense_V333M exm1247189 16 66947169 [A/G] NM_001204744,NM_001204746,NM_004062,NM_001204745 CDH16,CDH16,CDH16,CDH16 EXON Missense_R307W,Missense_R210W,Missense_R307W,Missense_R307W exm1247196 16 66947467 [A/G] NM_001204744,NM_001204746,NM_004062,NM_001204745 CDH16,CDH16,CDH16,CDH16 EXON Missense_P277L,Missense_P180L,Missense_P277L,Missense_P277L exm1247202 16 66948130 [A/G] NM_001204744,NM_001204746,NM_004062,NM_001204745 CDH16,CDH16,CDH16,CDH16 EXON Missense_H257Y,Missense_H160Y,Missense_H257Y,Missense_H257Y exm1247213 16 66949215 [T/C] NM_001204744,NM_001204746,NM_004062,NM_001204745 CDH16,CDH16,CDH16,CDH16 EXON Missense_R164Q,Silent,Missense_R164Q,Missense_R164Q exm1247218 16 66949971 [A/G] NM_001204744,NM_001204746,NM_004062,NM_001204745 CDH16,CDH16,CDH16,CDH16 EXON Missense_P141S,Silent,Missense_P141S,Missense_P141S exm1863688 16 66950085 [T/C] NM_001204744,NM_001204746,NM_004062,NM_001204745 CDH16,CDH16,CDH16,CDH16 EXON Missense_G103R,Missense_G103R,Missense_G103R,Missense_G103R exm1247225 16 66950311 [T/C] NM_001204744,NM_001204746,NM_004062,NM_001204745 CDH16,CDH16,CDH16,CDH16 EXON Missense_A51T,Missense_A51T,Missense_A51T,Missense_A51T exm1247232 16 66951619 [T/G] NM_001204744,NM_001204746,NM_004062,NM_001204745 CDH16,CDH16,CDH16,CDH16 EXON Missense_K19Q,Missense_K19Q,Missense_K19Q,Missense_K19Q exm1247234 16 66951928 [A/G] NM_001204744,NM_001204746,NM_004062,NM_001204745 CDH16,CDH16,CDH16,CDH16 EXON Missense_P14L,Missense_P14L,Missense_P14L,Missense_P14L exm1247243 16 66956059 [G/C] NM_001128850,NM_004165 RRAD,RRAD EXON Missense_G283R,Missense_G283R exm1863713 16 66958749 [A/C] NM_001128850,NM_004165 RRAD,RRAD EXON Missense_G112C,Missense_G112C exm1247268 16 66958886 [T/G] NM_001128850,NM_004165 RRAD,RRAD EXON Missense_Q66P,Missense_Q66P exm1247304 16 66971964 [A/G] NM_003869,NM_198061,NR_036684 CES2,CES2,CES2 EXON Missense_R98Q,Missense_R98Q,Silent exm1247307 16 66972014 [A/G] NM_003869,NM_198061,NR_036684 CES2,CES2,CES2 EXON Missense_A115T,Missense_A115T,Silent exm1863732 16 66972024 [T/G] NM_003869,NM_198061,NR_036684 CES2,CES2,CES2 EXON Missense_G118V,Missense_G118V,Silent exm2225080 16 66972077 [T/C] NM_003869,NM_198061,NR_036684 CES2,CES2,CES2 EXON Nonsense_R136X,Nonsense_R136X,Silent exm1247314 16 66973170 [A/G] NM_003869,NM_198061,NR_036684 CES2,CES2,CES2 EXON Missense_N175S,Missense_N175S,Silent exm1247333 16 66974489 [T/C] NM_003869,NM_198061,NR_036684 CES2,CES2,CES2 EXON Missense_S300L,Missense_S300L,Silent exm1247336 16 66974527 [A/G] NM_003869,NM_198061,NR_036684 CES2,CES2,CES2 EXON Missense_G313R,Missense_G313R,Silent exm1247341 16 66974560 [T/C] NM_003869,NM_198061,NR_036684 CES2,CES2,CES2 EXON Missense_P324S,Missense_P324S,Silent exm1247343 16 66974597 [T/C] NM_003869,NM_198061,NR_036684 CES2,CES2,CES2 EXON Missense_T336M,Missense_T336M,Silent exm1247346 16 66975427 [A/G] NM_003869,NM_198061,NR_036684 CES2,CES2,CES2 EXON Missense_G376R,Missense_G376R,Silent exm1247356 16 66975744 [T/C] NM_003869,NM_198061,NR_036684 CES2,CES2,CES2 EXON Missense_T441M,Missense_T441M,Silent exm1247379 16 66977896 [A/G] NM_003869,NM_198061,NR_036684 CES2,CES2,CES2 EXON Missense_E614K,Missense_E598K,Silent exm1863764 16 66997136 [A/G] NM_001185177,NM_024922 CES3,CES3 EXON Missense_R46Q,Missense_R46Q exm1247392 16 66997163 [A/G] NM_001185177,NM_024922 CES3,CES3 EXON Missense_R55H,Missense_R55H exm2274845 16 66997488 [A/C] NM_001185177,NM_024922 CES3,CES3 EXON Missense_N128H,Missense_N128H exm1247400 16 66997491 [A/G] NM_001185177,NM_024922 CES3,CES3 EXON Missense_V129I,Missense_V129I exm1247404 16 66997710 [A/G] NM_001185177,NM_024922 CES3,CES3 EXON Missense_M144I,Missense_M144I exm1247408 16 66997729 [A/G] NM_001185177,NM_024922 CES3,CES3 EXON Missense_A151T,Missense_A151T exm1247411 16 66997756 [T/C] NM_001185177,NM_024922 CES3,CES3 EXON Missense_Y160H,Missense_Y160H exm1247415 16 66997784 [A/G] NM_001185177,NM_024922 CES3,CES3 EXON Missense_G169E,Missense_G169E exm1247416 16 66997813 [T/C] NM_001185177,NM_024922 CES3,CES3 EXON Missense_R179C,Missense_R179C exm1247418 16 66998270 [A/G] NM_001185177,NM_024922 CES3,CES3 EXON Missense_E191K,Missense_E191K exm1247421 16 66998370 [T/C] NM_001185177,NM_024922 CES3,CES3 EXON Missense_T224I,Missense_T224I exm1247423 16 66998390 [A/G] NM_001185177,NM_024922 CES3,CES3 EXON Missense_G231S,Missense_G231S exm1247435 16 67000220 [A/G] NM_001185177,NM_024922 CES3,CES3 EXON Missense_G298E,Missense_G298E exm1247442 16 67000756 [A/G] NM_001185177,NM_024922 CES3,CES3 EXON Nonsense_W350X,Nonsense_W350X exm1247444 16 67003618 [T/C] NM_001185177,NM_024922,NM_001185176 CES3,CES3,CES3 EXON Missense_R367W,Missense_R367W,Missense_R6W exm1247453 16 67005135 [A/G] NM_001185177,NM_024922,NM_001185176 CES3,CES3,CES3 EXON Missense_A402T,Missense_A402T,Missense_A41T exm1247459 16 67005219 [T/C] NM_001185177,NM_024922,NM_001185176 CES3,CES3,CES3 EXON Nonsense_R430X,Nonsense_R430X,Nonsense_R69X exm1247462 16 67006301 [T/C] NM_001185177,NM_024922,NM_001185176 CES3,CES3,CES3 EXON Missense_P445L,Missense_P445L,Missense_P84L exm2277099 16 67006379 [T/C] NM_001185177,NM_024922,NM_001185176 CES3,CES3,CES3 EXON Missense_P471L,Missense_P471L,Missense_P110L exm1247473 16 67006571 [A/C] NM_001185177,NM_024922,NM_001185176 CES3,CES3,CES3 EXON Silent,Missense_A481D,Missense_A120D exm1247474 16 67006597 [A/G] NM_001185177,NM_024922,NM_001185176 CES3,CES3,CES3 EXON Missense_K487E,Missense_K490E,Missense_K129E exm1247479 16 67006757 [T/G] NM_001185177,NM_024922,NM_001185176 CES3,CES3,CES3 EXON Synonymous_G504G,Synonymous_G507G,Synonymous_G146G exm1247481 16 67006804 [T/C] NM_001185177,NM_024922,NM_001185176 CES3,CES3,CES3 EXON Missense_A520V,Missense_A523V,Missense_A162V exm1247487 16 67006885 [T/C] NM_001185177,NM_024922,NM_001185176 CES3,CES3,CES3 EXON Missense_T547M,Missense_T550M,Missense_T189M exm1247489 16 67006899 [A/G] NM_001185177,NM_024922,NM_001185176 CES3,CES3,CES3 EXON Missense_I552V,Missense_I555V,Missense_I194V exm1247514 16 67034867 [C/G] NM_173815,NM_001190202,NM_001190201 CES4A,CES4A,CES4A EXON Missense_H170Q,Missense_H72Q,Missense_H72Q exm1247524 16 67037054 [A/C] NM_173815,NM_001190202,NM_001190201 CES4A,CES4A,CES4A EXON Missense_S258R,Missense_S164R,Missense_S160R exm1247525 16 67037064 [T/G] NM_173815,NM_001190202,NM_001190201 CES4A,CES4A,CES4A EXON Missense_L261R,Missense_L167R,Missense_L163R exm1247530 16 67037445 [C/G] NM_173815,NM_001190202,NM_001190201 CES4A,CES4A,CES4A EXON Missense_D310H,Missense_D216H,Missense_D212H exm1247545 16 67039294 [A/G] NM_173815,NM_001190202,NM_001190201 CES4A,CES4A,CES4A EXON Missense_R438Q,Missense_R344Q,Missense_R340Q exm2225084 16 67040317 [T/C] NM_173815,NM_001190202,NM_001190201 CES4A,CES4A,CES4A EXON Silent,Silent,Missense_Y349H exm1247546 16 67040335 [A/G] NM_173815,NM_001190202,NM_001190201 CES4A,CES4A,CES4A EXON Silent,Silent,Missense_A355T exm1247551 16 67040714 [A/G] NM_173815,NM_001190202,NM_001190201 CES4A,CES4A,CES4A EXON Silent,Silent,Missense_R406H exm1247559 16 67063336 [A/G] NM_001755,NM_022845 CBFB,CBFB EXON Missense_R9K,Missense_R9K exm1247565 16 67100679 [A/C] NM_001755,NM_022845 CBFB,CBFB EXON Missense_E126A,Missense_E126A exm2260577 16 67131601 [T/C] NM_001755,NM_022845 CBFB,CBFB Silent,Silent exm1247576 16 67132677 [A/G] NM_001755,NM_022845 CBFB,CBFB EXON Silent,Missense_R187H exm1247579 16 67144115 [A/G] NM_025187 C16orf70 EXON Missense_G13R exm1247582 16 67154060 [A/G] NM_025187 C16orf70 EXON Missense_R37H exm1247583 16 67154083 [T/C] NM_025187 C16orf70 EXON Missense_L45F exm1247592 16 67166731 [A/G] NM_025187 C16orf70 EXON Missense_A123T exm1247600 16 67173888 [T/C] NM_025187 C16orf70 EXON Synonymous_G221G exm1247625 16 67180198 [A/C] NM_025187 C16orf70 EXON Missense_N376T exm1247628 16 67180978 [A/T] NM_025187 C16orf70 EXON Missense_T405S exm1247642 16 67183379 [T/C] NM_033309 B3GNT9 EXON Missense_R337H exm1247668 16 67184087 [T/G] NM_033309 B3GNT9 EXON Missense_N101T exm1247689 16 67189310 [A/C] NM_003789 TRADD EXON Missense_E133D exm1247692 16 67189338 [C/G] NM_003789 TRADD EXON Missense_R124P exm1247712 16 67195639 [T/C] NM_018378 FBXL8 EXON Silent exm1247719 16 67195842 [T/C] NM_018378 FBXL8 Silent exm2252673 16 67197138 [T/C] NM_018378 FBXL8 EXON Synonymous_P180P exm1247752 16 67197421 [A/G] NM_018378,NM_001040667,NM_001538 FBXL8,HSF4,HSF4 EXON Missense_V275I,Silent,Silent exm1247756 16 67197631 [G/C] NM_018378,NM_001040667,NM_001538 FBXL8,HSF4,HSF4 EXON Missense_D345H,Silent,Silent exm1247787 16 67200249 [T/G] NM_001040667,NM_001538 HSF4,HSF4 EXON Missense_V171G,Missense_V171G exm1247796 16 67201076 [A/C] NM_001040667,NM_001538 HSF4,HSF4 EXON Missense_T227N,Missense_T227N exm1247815 16 67202783 [T/C] NM_001040667,NM_001538 HSF4,HSF4 EXON Missense_P378S,Missense_P348S exm1863896 16 67203533 [T/G] NM_001040667,NM_001538 HSF4,HSF4 Silent,Silent exm1247822 16 67203596 [T/G] NM_001040667,NM_001538 HSF4,HSF4 EXON Missense_A463S,Missense_A433S exm1247824 16 67203623 [A/G] NM_001040667,NM_001538 HSF4,HSF4 EXON Missense_I472V,Missense_I442V exm2276450 16 67203684 [G/C] NM_001040667,NM_001538 HSF4,HSF4 EXON Missense_P492R,Missense_P462R exm1247830 16 67208109 [G/C] NM_001276307,NM_001276319,NM_001276309,NM_001276312,NM_001185058,NM_001185057,NM_003946,NM_001276311 NOL3,NOL3,NOL3,NOL3,NOL3,NOL3,NOL3,NOL3 EXON Missense_D13H,Missense_D75H,Missense_D13H,Missense_D13H,Missense_D13H,Missense_D13H,Missense_D13H,Missense_D13H exm1247837 16 67208257 [T/C] NM_001276307,NM_001276319,NM_001276309,NM_001276312,NM_001185058,NM_001185057,NM_003946,NM_001276311 NOL3,NOL3,NOL3,NOL3,NOL3,NOL3,NOL3,NOL3 EXON Missense_L62P,Missense_L124P,Missense_L62P,Missense_L62P,Missense_L62P,Missense_L62P,Missense_L62P,Silent exm1247839 16 67208559 [A/G] NM_001276307,NM_001276319,NM_001276309,NM_001276312,NM_001185058,NM_001185057,NM_003946,NM_001276311 NOL3,NOL3,NOL3,NOL3,NOL3,NOL3,NOL3,NOL3 EXON Missense_G111S,Missense_G173S,Missense_G111S,Missense_G111S,Missense_G111S,Synonymous_Q107Q,Missense_G111S,Synonymous_Q69Q exm1247840 16 67208570 [C/G] NM_001276307,NM_001276319,NM_001276309,NM_001276312,NM_001185058,NM_001185057,NM_003946,NM_001276311 NOL3,NOL3,NOL3,NOL3,NOL3,NOL3,NOL3,NOL3 EXON Synonymous_T114T,Synonymous_T176T,Synonymous_T114T,Synonymous_T114T,Synonymous_T114T,Missense_R111P,Synonymous_T114T,Missense_R73P exm1247848 16 67208806 [T/C] NM_001276307,NM_001276319,NM_001276309,NM_001276312,NM_001185058,NM_001185057,NM_003946,NM_001276311 NOL3,NOL3,NOL3,NOL3,NOL3,NOL3,NOL3,NOL3 EXON Missense_P193L,Missense_P255L,Missense_P193L,Missense_P193L,Missense_P193L,Nonsense_Q190X,Missense_P193L,Nonsense_Q152X exm1247851 16 67208848 [A/G] NM_001276307,NM_001276319,NM_001276309,NM_001276312,NM_001185058,NM_001185057,NM_003946,NM_001276311 NOL3,NOL3,NOL3,NOL3,NOL3,NOL3,NOL3,NOL3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm1863911 16 67208993 [G/C] NM_001276307,NM_001276319,NM_001276309,NM_001276312,NM_001185058,NM_001185057,NM_003946,NM_001276311 NOL3,NOL3,NOL3,NOL3,NOL3,NOL3,NOL3,NOL3 EXON Silent,Silent,Silent,Silent,Silent,Missense_A218G,Silent,Missense_A180G exm1247857 16 67210754 [T/C] NM_001040715 KIAA0895L EXON Missense_R459Q exm1247860 16 67210855 [G/C] NM_001040715 KIAA0895L EXON Missense_H425Q exm1247914 16 67214416 [T/C] NM_001040715 KIAA0895L EXON Missense_R33Q exm1247933 16 67218810 [T/C] NM_178516 EXOC3L1 EXON Missense_S634G exm1247937 16 67219052 [T/C] NM_178516 EXOC3L1 EXON Missense_N579S exm1247939 16 67219091 [T/C] NM_178516 EXOC3L1 EXON Missense_R566Q exm1247940 16 67219107 [C/G] NM_178516 EXOC3L1 EXON Missense_Q561E exm1247945 16 67219349 [T/G] NM_178516 EXOC3L1 EXON Missense_A514D exm1247955 16 67220231 [A/G] NM_178516 EXOC3L1 EXON Nonsense_R469X exm1247967 16 67220741 [C/G] NM_178516 EXOC3L1 EXON Missense_A402G exm1247970 16 67220929 [T/C] NM_178516 EXOC3L1 EXON Missense_I385V exm1247979 16 67221207 [A/G] NM_178516 EXOC3L1 EXON Nonsense_Q321X exm1247983 16 67221272 [A/G] NM_178516 EXOC3L1 EXON Missense_P299L exm1247989 16 67221389 [T/C] NM_178516 EXOC3L1 EXON Missense_H260R exm1247992 16 67221443 [T/C] NM_178516 EXOC3L1 EXON Missense_R242Q exm1247993 16 67221444 [C/G] NM_178516 EXOC3L1 EXON Missense_R242G exm1247995 16 67221474 [T/C] NM_178516 EXOC3L1 EXON Missense_G232R exm1247996 16 67221494 [T/C] NM_178516 EXOC3L1 EXON Missense_R225H exm1247997 16 67221545 [A/G] NM_178516 EXOC3L1 EXON Missense_A208V exm1247998 16 67221563 [A/G] NM_178516 EXOC3L1 EXON Missense_V202A exm1248006 16 67221737 [A/G] NM_178516 EXOC3L1 EXON Missense_P144L exm1248007 16 67222629 [G/C] NM_178516 EXOC3L1 EXON Missense_R141P exm1248011 16 67222668 [T/C] NM_178516 EXOC3L1 EXON Missense_K128R exm1248013 16 67222684 [G/C] NM_178516 EXOC3L1 EXON Missense_R123G exm1248017 16 67222697 [G/C] NM_178516 EXOC3L1 EXON Missense_E118D exm1863953 16 67222740 [T/C] NM_178516 EXOC3L1 EXON Missense_R104H exm1248024 16 67222828 [T/A] NM_178516 EXOC3L1 EXON Missense_Y75N exm1248025 16 67222833 [A/T] NM_178516 EXOC3L1 EXON Missense_Q73L exm1248027 16 67222999 [A/G] NM_178516 EXOC3L1 EXON Missense_P44L exm1248028 16 67223003 [A/G] NM_178516 EXOC3L1 EXON Missense_R43W exm1248033 16 67223042 [A/G] NM_178516 EXOC3L1 EXON Missense_R30W exm-rs3729639 16 67225501 [T/C] exm1248064 16 67228590 [T/G] NM_001950 E2F4 EXON Missense_G172V exm1248087 16 67229829 [A/G] NM_001950 E2F4 EXON Missense_S318N exm2252674 16 67231975 [T/C] NM_001950 E2F4 EXON Synonymous_D397D exm1248096 16 67231976 [A/G] NM_001950 E2F4 EXON Missense_E398K exm1248111 16 67233243 [A/G] NM_024712 ELMO3 EXON Missense_R58Q exm1248113 16 67233266 [A/C] NM_024712 ELMO3 EXON Missense_K66Q exm2274846 16 67233618 [G/C] NM_024712 ELMO3 EXON Missense_L104V exm1248121 16 67233658 [A/G] NM_024712 ELMO3 EXON Missense_N117S exm1248128 16 67233902 [G/C] NM_024712 ELMO3 EXON Missense_P134A exm1248129 16 67234134 [A/G] NM_024712 ELMO3 EXON Missense_N148D exm1248133 16 67234263 [A/G] NM_024712 ELMO3 EXON Missense_D191N exm1248142 16 67234599 [A/G] NM_024712 ELMO3 EXON Missense_V238M exm1248167 16 67235477 [A/G] NM_024712 ELMO3 EXON Missense_V337I exm1248169 16 67235504 [A/C] NM_024712 ELMO3 EXON Missense_L346M exm1248173 16 67235523 [T/C] NM_024712 ELMO3 EXON Missense_T352M exm1248179 16 67235672 [T/C] NM_024712 ELMO3 EXON Missense_R369C exm1248182 16 67235709 [T/G] NM_024712 ELMO3 EXON Missense_G381V exm1248184 16 67235879 [A/G] NM_024712 ELMO3 Silent exm1248192 16 67235937 [A/C] NM_024712 ELMO3 EXON Missense_N423H exm1248198 16 67236102 [T/C] NM_024712 ELMO3 EXON Synonymous_R445R exm2252675 16 67236102 [T/C] NM_024712 ELMO3 EXON Synonymous_R445R exm1248199 16 67236109 [T/A] NM_024712 ELMO3 EXON Nonsense_K448X exm1248214 16 67236599 [T/C] NM_024712 ELMO3 EXON Nonsense_R543X exm1248219 16 67236872 [T/C] NM_024712 ELMO3 EXON Missense_T600M exm1864044 16 67236899 [A/G] NM_024712 ELMO3 EXON Missense_R609Q exm1248224 16 67237090 [A/G] NM_024712 ELMO3 EXON Missense_A635T exm1248240 16 67237668 [A/G] NM_024712 ELMO3 EXON Missense_K737R exm1864059 16 67237674 [A/G] NM_024712 ELMO3 EXON Missense_R739H exm1248254 16 67241545 [T/C] NM_012163,NM_001004055 LRRC29,LRRC29 EXON Missense_R212H,Missense_R212H exm1248258 16 67241587 [T/C] NM_012163,NM_001004055 LRRC29,LRRC29 EXON Missense_R198H,Missense_R198H exm1248263 16 67241662 [A/G] NM_012163,NM_001004055 LRRC29,LRRC29 EXON Missense_I173T,Missense_I173T exm1248265 16 67241785 [A/G] NM_012163,NM_001004055 LRRC29,LRRC29 EXON Missense_L165P,Missense_L165P exm1248271 16 67241930 [T/C] NM_012163,NM_001004055 LRRC29,LRRC29 EXON Missense_G117S,Missense_G117S exm1248275 16 67241987 [A/G] NM_012163,NM_001004055 LRRC29,LRRC29 EXON Nonsense_Q98X,Nonsense_Q98X exm1248277 16 67242276 [T/C] NM_012163,NM_001004055 LRRC29,LRRC29 EXON Missense_R75Q,Missense_R75Q exm1248290 16 67244036 [T/C] NM_012163,NM_001004055 LRRC29,LRRC29 EXON Missense_R19Q,Missense_R19Q exm1248306 16 67262319 [T/G] NM_014187 TMEM208 Silent exm1248314 16 67263008 [T/C] NM_014187 TMEM208 EXON Missense_R172W exm1248331 16 67264026 [T/C] NM_013241 FHOD1 EXON Missense_M1053V exm1248333 16 67264083 [A/C] NM_013241 FHOD1 EXON Missense_V1034F exm1248339 16 67264297 [A/G] NM_013241 FHOD1 EXON Missense_R991W exm1864095 16 67264324 [C/G] NM_013241 FHOD1 EXON Missense_E982Q exm2252676 16 67264403 [A/G] NM_013241 FHOD1 EXON Synonymous_H955H exm1248354 16 67264546 [T/C] NM_013241 FHOD1 EXON Missense_R939H exm1248363 16 67264648 [T/C] NM_013241 FHOD1 EXON Missense_R905Q exm1248370 16 67265147 [A/G] NM_013241 FHOD1 EXON Missense_R871W exm1248379 16 67265359 [A/C] NM_013241 FHOD1 EXON Missense_V827L exm1248381 16 67265386 [A/G] NM_013241 FHOD1 EXON Missense_R818C exm1864108 16 67265541 [T/C] NM_013241 FHOD1 EXON Missense_R795Q exm1248391 16 67265650 [T/C] NM_013241 FHOD1 EXON Missense_I759V exm1248392 16 67265662 [T/C] NM_013241 FHOD1 EXON Missense_A755T exm1248399 16 67266058 [T/C] NM_013241 FHOD1 EXON Missense_D696N exm1248407 16 67267615 [A/G] NM_013241 FHOD1 EXON Missense_T664M exm1248423 16 67268008 [A/G] NM_013241 FHOD1 EXON Missense_P533L exm1248425 16 67268057 [T/C] NM_013241 FHOD1 EXON Missense_E517K exm1248428 16 67268089 [T/C] NM_013241 FHOD1 EXON Missense_R506Q exm1248437 16 67268293 [T/C] NM_013241 FHOD1 EXON Missense_G468R exm1248466 16 67271145 [T/G] NM_013241 FHOD1 EXON Nonsense_Y330X exm2274847 16 67271654 [G/C] NM_013241 FHOD1 EXON Missense_K220N exm1248488 16 67272119 [T/C] NM_013241 FHOD1 EXON Missense_S178N exm1248498 16 67273254 [A/G] NM_013241 FHOD1 EXON Missense_I102T exm1248517 16 67286459 [C/G] NM_004594 SLC9A5 EXON Missense_R68G exm1248533 16 67289025 [A/G] NM_004594 SLC9A5 EXON Missense_V198I exm1248536 16 67289049 [A/G] NM_004594 SLC9A5 EXON Missense_V206I exm1248560 16 67292313 [A/G] NM_004594 SLC9A5 EXON Missense_R530K exm1248586 16 67300116 [C/G] NM_004594 SLC9A5 EXON Missense_G736R exm1248587 16 67300122 [T/G] NM_004594 SLC9A5 EXON Missense_V738F exm1248597 16 67304891 [A/C] NM_004594 SLC9A5 EXON Missense_E823D exm1248615 16 67314243 [T/C] NM_015432,NM_001129727,NM_001129728,NM_001129729,NM_001129731 PLEKHG4,PLEKHG4,PLEKHG4,PLEKHG4,PLEKHG4 EXON Missense_P99L,Missense_P99L,Missense_P99L,Missense_P99L,Missense_P99L exm1248616 16 67314258 [G/C] NM_015432,NM_001129727,NM_001129728,NM_001129729,NM_001129731 PLEKHG4,PLEKHG4,PLEKHG4,PLEKHG4,PLEKHG4 EXON Missense_S104T,Missense_S104T,Missense_S104T,Missense_S104T,Missense_S104T exm1248621 16 67314358 [A/G] NM_015432,NM_001129727,NM_001129728,NM_001129729,NM_001129731 PLEKHG4,PLEKHG4,PLEKHG4,PLEKHG4,PLEKHG4 EXON Missense_M137I,Missense_M137I,Missense_M137I,Missense_M137I,Silent exm1248625 16 67314790 [T/C] NM_015432,NM_001129727,NM_001129728,NM_001129729,NM_001129731 PLEKHG4,PLEKHG4,PLEKHG4,PLEKHG4,PLEKHG4 EXON Missense_R201W,Missense_R201W,Missense_R201W,Missense_R201W,Missense_R120W exm1248632 16 67315038 [G/C] NM_015432,NM_001129727,NM_001129728,NM_001129729,NM_001129731 PLEKHG4,PLEKHG4,PLEKHG4,PLEKHG4,PLEKHG4 EXON Missense_R255P,Missense_R255P,Missense_R255P,Missense_R255P,Missense_R174P exm1864209 16 67315670 [A/C] NM_015432,NM_001129727,NM_001129728,NM_001129729,NM_001129731 PLEKHG4,PLEKHG4,PLEKHG4,PLEKHG4,PLEKHG4 EXON Missense_T312K,Missense_T312K,Missense_T312K,Missense_T312K,Missense_T231K exm1248645 16 67315912 [T/C] NM_015432,NM_001129727,NM_001129728,NM_001129729,NM_001129731 PLEKHG4,PLEKHG4,PLEKHG4,PLEKHG4,PLEKHG4 EXON Missense_R336W,Missense_R336W,Missense_R336W,Missense_R336W,Missense_R255W exm1248662 16 67316441 [A/G] NM_015432,NM_001129727,NM_001129728,NM_001129729,NM_001129731 PLEKHG4,PLEKHG4,PLEKHG4,PLEKHG4,PLEKHG4 EXON Missense_R430Q,Missense_R430Q,Missense_R430Q,Missense_R430Q,Missense_R349Q exm1248667 16 67316533 [A/G] NM_015432,NM_001129727,NM_001129728,NM_001129729,NM_001129731 PLEKHG4,PLEKHG4,PLEKHG4,PLEKHG4,PLEKHG4 EXON Missense_G461R,Missense_G461R,Missense_G461R,Missense_G461R,Missense_G380R exm1248671 16 67316690 [T/G] NM_015432,NM_001129727,NM_001129728,NM_001129729,NM_001129731 PLEKHG4,PLEKHG4,PLEKHG4,PLEKHG4,PLEKHG4 EXON Missense_A480S,Missense_A480S,Missense_A480S,Missense_A480S,Missense_A399S exm1248678 16 67318242 [A/G] NM_015432,NM_001129727,NM_001129728,NM_001129729,NM_001129731 PLEKHG4,PLEKHG4,PLEKHG4,PLEKHG4,PLEKHG4 EXON Missense_D525G,Missense_D525G,Missense_D525G,Missense_D525G,Missense_D444G exm1864222 16 67318257 [A/G] NM_015432,NM_001129727,NM_001129728,NM_001129729,NM_001129731 PLEKHG4,PLEKHG4,PLEKHG4,PLEKHG4,PLEKHG4 EXON Missense_R530H,Missense_R530H,Missense_R530H,Missense_R530H,Missense_R449H exm1248686 16 67318338 [A/G] NM_015432,NM_001129727,NM_001129728,NM_001129729,NM_001129731 PLEKHG4,PLEKHG4,PLEKHG4,PLEKHG4,PLEKHG4 EXON Missense_R557K,Missense_R557K,Missense_R557K,Missense_R557K,Missense_R476K exm1248687 16 67318348 [C/G] NM_015432,NM_001129727,NM_001129728,NM_001129729,NM_001129731 PLEKHG4,PLEKHG4,PLEKHG4,PLEKHG4,PLEKHG4 EXON Missense_Q560H,Missense_Q560H,Missense_Q560H,Missense_Q560H,Missense_Q479H exm1864229 16 67318671 [A/G] NM_015432,NM_001129727,NM_001129728,NM_001129729,NM_001129731 PLEKHG4,PLEKHG4,PLEKHG4,PLEKHG4,PLEKHG4 EXON Missense_R583H,Missense_R583H,Missense_R583H,Missense_R583H,Missense_R502H exm1248705 16 67318814 [T/C] NM_015432,NM_001129727,NM_001129728,NM_001129729,NM_001129731 PLEKHG4,PLEKHG4,PLEKHG4,PLEKHG4,PLEKHG4 EXON Missense_R631W,Missense_R631W,Missense_R631W,Missense_R631W,Missense_R550W exm1248722 16 67319243 [A/G] NM_015432,NM_001129727,NM_001129728,NM_001129729,NM_001129731 PLEKHG4,PLEKHG4,PLEKHG4,PLEKHG4,PLEKHG4 EXON Missense_R749Q,Missense_R749Q,Missense_R749Q,Missense_R749Q,Missense_R668Q exm1248724 16 67319264 [A/G] NM_015432,NM_001129727,NM_001129728,NM_001129729,NM_001129731 PLEKHG4,PLEKHG4,PLEKHG4,PLEKHG4,PLEKHG4 EXON Missense_E756G,Missense_E756G,Missense_E756G,Missense_E756G,Missense_E675G exm1248740 16 67320220 [G/C] NM_015432,NM_001129727,NM_001129728,NM_001129729,NM_001129731 PLEKHG4,PLEKHG4,PLEKHG4,PLEKHG4,PLEKHG4 EXON Missense_P829R,Missense_P829R,Missense_P829R,Missense_P829R,Missense_P748R exm1248741 16 67320223 [A/G] NM_015432,NM_001129727,NM_001129728,NM_001129729,NM_001129731 PLEKHG4,PLEKHG4,PLEKHG4,PLEKHG4,PLEKHG4 EXON Missense_R830H,Missense_R830H,Missense_R830H,Missense_R830H,Missense_R749H exm1248744 16 67320231 [T/G] NM_015432,NM_001129727,NM_001129728,NM_001129729,NM_001129731 PLEKHG4,PLEKHG4,PLEKHG4,PLEKHG4,PLEKHG4 EXON Missense_A833S,Missense_A833S,Missense_A833S,Missense_A833S,Missense_A752S exm1248747 16 67320372 [T/C] NM_015432,NM_001129727,NM_001129728,NM_001129729,NM_001129731 PLEKHG4,PLEKHG4,PLEKHG4,PLEKHG4,PLEKHG4 EXON Missense_H853Y,Missense_H853Y,Missense_H853Y,Missense_H853Y,Missense_H772Y exm1248765 16 67320811 [T/C] NM_015432,NM_001129727,NM_001129728,NM_001129729,NM_001129731 PLEKHG4,PLEKHG4,PLEKHG4,PLEKHG4,PLEKHG4 EXON Missense_R972C,Missense_R972C,Missense_R972C,Missense_R972C,Missense_R891C exm1248770 16 67320943 [A/G] NM_015432,NM_001129727,NM_001129728,NM_001129729,NM_001129731 PLEKHG4,PLEKHG4,PLEKHG4,PLEKHG4,PLEKHG4 EXON Missense_N989S,Missense_N989S,Missense_N989S,Missense_N989S,Missense_N908S exm1248771 16 67320972 [T/C] NM_015432,NM_001129727,NM_001129728,NM_001129729,NM_001129731 PLEKHG4,PLEKHG4,PLEKHG4,PLEKHG4,PLEKHG4 EXON Missense_R999C,Missense_R999C,Missense_R999C,Missense_R999C,Missense_R918C exm1248773 16 67321887 [T/C] NM_015432,NM_001129727,NM_001129728,NM_001129729,NM_001129731 PLEKHG4,PLEKHG4,PLEKHG4,PLEKHG4,PLEKHG4 EXON Missense_R1064C,Missense_R1064C,Missense_R1064C,Missense_R1064C,Missense_R983C exm1248774 16 67321888 [A/G] NM_015432,NM_001129727,NM_001129728,NM_001129729,NM_001129731 PLEKHG4,PLEKHG4,PLEKHG4,PLEKHG4,PLEKHG4 EXON Missense_R1064H,Missense_R1064H,Missense_R1064H,Missense_R1064H,Missense_R983H exm1248775 16 67321892 [T/C] NM_015432,NM_001129727,NM_001129728,NM_001129729,NM_001129731 PLEKHG4,PLEKHG4,PLEKHG4,PLEKHG4,PLEKHG4 EXON Synonymous_T1065T,Synonymous_T1065T,Synonymous_T1065T,Synonymous_T1065T,Synonymous_T984T exm2252677 16 67321892 [T/C] NM_015432,NM_001129727,NM_001129728,NM_001129729,NM_001129731 PLEKHG4,PLEKHG4,PLEKHG4,PLEKHG4,PLEKHG4 EXON Synonymous_T1065T,Synonymous_T1065T,Synonymous_T1065T,Synonymous_T1065T,Synonymous_T984T exm1248781 16 67322096 [A/G] NM_015432,NM_001129727,NM_001129728,NM_001129729,NM_001129731 PLEKHG4,PLEKHG4,PLEKHG4,PLEKHG4,PLEKHG4 EXON Missense_V1083I,Missense_V1083I,Missense_V1083I,Missense_V1083I,Missense_V1002I exm1248783 16 67322118 [C/G] NM_015432,NM_001129727,NM_001129728,NM_001129729,NM_001129731 PLEKHG4,PLEKHG4,PLEKHG4,PLEKHG4,PLEKHG4 EXON Missense_S1090T,Missense_S1090T,Missense_S1090T,Missense_S1090T,Missense_S1009T exm1248784 16 67322153 [C/G] NM_015432,NM_001129727,NM_001129728,NM_001129729,NM_001129731 PLEKHG4,PLEKHG4,PLEKHG4,PLEKHG4,PLEKHG4 EXON Missense_D1102H,Missense_D1102H,Missense_D1102H,Missense_D1102H,Missense_D1021H exm1248791 16 67322391 [C/G] NM_015432,NM_001129727,NM_001129728,NM_001129729,NM_001129731 PLEKHG4,PLEKHG4,PLEKHG4,PLEKHG4,PLEKHG4 Silent,Silent,Silent,Silent,Silent exm1248792 16 67322413 [T/C] NM_015432,NM_001129727,NM_001129728,NM_001129729,NM_001129731 PLEKHG4,PLEKHG4,PLEKHG4,PLEKHG4,PLEKHG4 EXON Missense_S1159L,Missense_S1159L,Missense_S1159L,Missense_S1159L,Missense_S1078L exm1248805 16 67324822 [A/C] NM_001100915 KCTD19 EXON Missense_R878L exm1248808 16 67324886 [C/G] NM_001100915 KCTD19 EXON Missense_L857V exm1248811 16 67325219 [T/C] NM_001100915 KCTD19 EXON Missense_R853Q exm1248818 16 67325566 [A/G] NM_001100915 KCTD19 EXON Missense_A798V exm1248828 16 67325711 [T/C] NM_001100915 KCTD19 EXON Missense_E750K exm1248832 16 67327470 [T/C] NM_001100915 KCTD19 EXON Missense_S732N exm1248836 16 67327603 [T/C] NM_001100915 KCTD19 EXON Missense_A688T exm1248838 16 67327642 [T/C] NM_001100915 KCTD19 EXON Missense_E675K exm1248840 16 67327668 [A/G] NM_001100915 KCTD19 EXON Missense_A666V exm1864267 16 67327783 [A/G] NM_001100915 KCTD19 EXON Missense_P628S exm1248863 16 67328891 [T/G] NM_001100915 KCTD19 EXON Missense_Q487P exm1248891 16 67333438 [T/C] NM_001100915 KCTD19 EXON Missense_G272R exm1248901 16 67337057 [T/C] NM_001100915 KCTD19 EXON Missense_R212H exm1248908 16 67338357 [A/T] NM_001100915 KCTD19 EXON Missense_S140T exm2225107 16 67354623 [T/C] NM_001100915 KCTD19 EXON Missense_D57N exm1248918 16 67354670 [A/T] NM_001100915 KCTD19 EXON Missense_K41I exm1248922 16 67360610 [T/G] NM_001100915 KCTD19 EXON Missense_M1L exm1248926 16 67360826 [A/G] NM_018296 LRRC36 EXON Missense_E21K exm1248928 16 67375884 [A/T] NM_018296 LRRC36 EXON Missense_Q32L exm1248935 16 67380202 [A/G] NM_018296 LRRC36 EXON Missense_Y81C exm1248937 16 67380262 [A/C] NM_018296 LRRC36 EXON Missense_E101A exm1248940 16 67381383 [G/C] NM_018296,NM_001161575 LRRC36,LRRC36 EXON Silent,Missense_R5P exm1248952 16 67397580 [G/C] NM_018296,NM_001161575 LRRC36,LRRC36 EXON Missense_R222P,Missense_R101P exm1248956 16 67400940 [T/C] NM_018296,NM_001161575 LRRC36,LRRC36 EXON Missense_R259C,Missense_R138C exm1248965 16 67401292 [A/G] NM_018296,NM_001161575 LRRC36,LRRC36 EXON Missense_C376Y,Missense_C255Y exm1248968 16 67404942 [T/C] NM_018296,NM_001161575 LRRC36,LRRC36 EXON Missense_H431Y,Missense_H310Y exm1248975 16 67405143 [A/G] NM_018296,NM_001161575 LRRC36,LRRC36 EXON Missense_E498K,Missense_E377K exm1248976 16 67409157 [G/C] NM_018296,NM_001161575 LRRC36,LRRC36 EXON Missense_S501C,Missense_S380C exm1248977 16 67409180 [A/G] NM_018296,NM_001161575 LRRC36,LRRC36 EXON Missense_G509S,Missense_G388S exm1248981 16 67409315 [A/G] NM_018296,NM_001161575 LRRC36,LRRC36 EXON Missense_G554S,Missense_G433S exm1248984 16 67410666 [T/C] NM_018296,NM_001161575 LRRC36,LRRC36 EXON Missense_P566L,Missense_P445L exm1248992 16 67412588 [A/G] NM_018296,NM_001161575 LRRC36,LRRC36 EXON Missense_V635M,Missense_V514M exm1248997 16 67418828 [A/G] NM_018296,NM_001161575 LRRC36,LRRC36 EXON Missense_G701S,Missense_G580S exm1249002 16 67418957 [A/G] NM_018296,NM_001161575 LRRC36,LRRC36 EXON Missense_S744G,Missense_S623G exm1249020 16 67424405 [G/C] NM_016140,NM_015964 TPPP3,TPPP3 EXON Missense_E107Q,Missense_E107Q exm1249023 16 67424435 [T/C] NM_016140,NM_015964 TPPP3,TPPP3 EXON Missense_D97N,Missense_D97N exm1249056 16 67432123 [A/G] NM_013304 ZDHHC1 EXON Missense_P307S exm1249057 16 67432125 [T/C] NM_013304 ZDHHC1 EXON Missense_R306Q exm1249064 16 67432584 [T/C] NM_013304 ZDHHC1 EXON Missense_V236M exm1249084 16 67434917 [T/C] NM_013304 ZDHHC1 EXON Missense_R124Q exm1249088 16 67434947 [T/C] NM_013304 ZDHHC1 EXON Missense_S114N exm1864376 16 67440106 [A/G] NM_013304 ZDHHC1 EXON Synonymous_Y83Y exm1249100 16 67440198 [T/C] NM_013304 ZDHHC1 EXON Missense_I53V exm1249115 16 67469608 [A/G] NM_000196 HSD11B2 EXON Missense_E115K exm1249117 16 67469705 [A/G] NM_000196 HSD11B2 EXON Missense_R147H exm1249122 16 67469874 [A/G] NM_000196 HSD11B2 EXON Missense_V165I exm1249123 16 67469893 [A/G] NM_000196 HSD11B2 EXON Missense_N171S exm1249143 16 67470505 [A/G] NM_000196 HSD11B2 EXON Missense_V273M exm1249150 16 67470635 [T/C] NM_000196 HSD11B2 EXON Missense_S316F exm1249202 16 67487502 [A/G] NM_004691 ATP6V0D1 EXON Missense_R83C exm1249214 16 67516562 [T/C] NM_001138 AGRP EXON Missense_M126V exm1249223 16 67516693 [T/C] NM_001138 AGRP EXON Missense_R82H exm1249226 16 67516945 [T/C] NM_001138 AGRP EXON Missense_A67T exm1249231 16 67517173 [T/C] NM_001138 AGRP EXON Synonymous_P43P exm1249248 16 67572604 [T/C] NM_024519,NM_001193522,NM_001193523,NM_001193524 FAM65A,FAM65A,FAM65A,FAM65A EXON Missense_P45L,Missense_P49L,Missense_P65L,Missense_P59L exm1249256 16 67572934 [A/G] NM_024519,NM_001193522,NM_001193523,NM_001193524 FAM65A,FAM65A,FAM65A,FAM65A EXON Missense_Q100R,Missense_Q104R,Missense_Q120R,Missense_Q114R exm1249264 16 67573999 [A/G] NM_024519,NM_001193522,NM_001193523,NM_001193524 FAM65A,FAM65A,FAM65A,FAM65A EXON Missense_R153Q,Missense_R157Q,Missense_R173Q,Missense_R167Q exm1249269 16 67574095 [A/G] NM_024519,NM_001193522,NM_001193523,NM_001193524 FAM65A,FAM65A,FAM65A,FAM65A EXON Missense_R185H,Missense_R189H,Missense_R205H,Missense_R199H exm2225110 16 67574233 [T/G] NM_024519,NM_001193522,NM_001193523,NM_001193524 FAM65A,FAM65A,FAM65A,FAM65A EXON Missense_A200S,Missense_A204S,Missense_A220S,Missense_A214S exm1249283 16 67575421 [T/G] NM_024519,NM_001193522,NM_001193523,NM_001193524 FAM65A,FAM65A,FAM65A,FAM65A EXON Missense_V297G,Missense_V301G,Missense_V317G,Missense_V311G exm1864447 16 67575793 [T/G] NM_024519,NM_001193522,NM_001193523,NM_001193524 FAM65A,FAM65A,FAM65A,FAM65A EXON Missense_E368D,Missense_E372D,Missense_E388D,Missense_E382D exm2225111 16 67575794 [A/C] NM_024519,NM_001193522,NM_001193523,NM_001193524 FAM65A,FAM65A,FAM65A,FAM65A EXON Missense_L369M,Missense_L373M,Missense_L389M,Missense_L383M exm1249307 16 67576104 [A/G] NM_024519,NM_001193522,NM_001193523,NM_001193524 FAM65A,FAM65A,FAM65A,FAM65A EXON Missense_S472N,Missense_S476N,Missense_S492N,Missense_S486N exm1249322 16 67576578 [T/C] NM_024519,NM_001193522,NM_001193523,NM_001193524 FAM65A,FAM65A,FAM65A,FAM65A EXON Missense_T630I,Missense_T634I,Missense_T650I,Missense_T644I exm1249345 16 67578257 [T/C] NM_024519,NM_001193522,NM_001193523,NM_001193524 FAM65A,FAM65A,FAM65A,FAM65A EXON Missense_R886C,Missense_R890C,Missense_R906C,Missense_R900C exm1864461 16 67578623 [A/G] NM_024519,NM_001193522,NM_001193523,NM_001193524 FAM65A,FAM65A,FAM65A,FAM65A EXON Missense_R920H,Missense_R924H,Missense_R940H,Missense_R934H exm1249355 16 67578668 [A/G] NM_024519,NM_001193522,NM_001193523,NM_001193524 FAM65A,FAM65A,FAM65A,FAM65A EXON Missense_R935Q,Missense_R939Q,Missense_R955Q,Missense_R949Q exm1249359 16 67578982 [T/C] NM_024519,NM_001193522,NM_001193523,NM_001193524 FAM65A,FAM65A,FAM65A,FAM65A EXON Missense_A998V,Missense_A1002V,Missense_A1018V,Missense_A1012V exm1249360 16 67578985 [A/G] NM_024519,NM_001193522,NM_001193523,NM_001193524 FAM65A,FAM65A,FAM65A,FAM65A EXON Missense_R999H,Missense_R1003H,Missense_R1019H,Missense_R1013H exm1249361 16 67578996 [T/C] NM_024519,NM_001193522,NM_001193523,NM_001193524 FAM65A,FAM65A,FAM65A,FAM65A EXON Missense_R1003C,Missense_R1007C,Missense_R1023C,Missense_R1017C exm1249362 16 67579280 [A/G] NM_024519,NM_001193522,NM_001193523,NM_001193524 FAM65A,FAM65A,FAM65A,FAM65A EXON Synonymous_V1011V,Synonymous_V1015V,Synonymous_V1031V,Synonymous_V1025V exm1249382 16 67579891 [A/G] NM_024519,NM_001193522,NM_001193523,NM_001193524 FAM65A,FAM65A,FAM65A,FAM65A EXON Missense_V1143M,Missense_V1147M,Missense_V1163M,Missense_V1157M exm1249387 16 67580113 [T/C] NM_024519,NM_001193522,NM_001193523,NM_001193524 FAM65A,FAM65A,FAM65A,FAM65A EXON Missense_R1181W,Missense_R1185W,Missense_R1201W,Missense_R1195W exm1249437 16 67670682 [T/C] NM_001191022,NM_006565 CTCF,CTCF EXON Missense_P315S,Missense_P643S exm1249446 16 67671680 [A/G] NM_001191022,NM_006565 CTCF,CTCF EXON Missense_A369T,Missense_A697T exm2252679 16 67680205 [A/G] NM_001013838 RLTPR EXON Synonymous_S122S exm1249478 16 67680370 [A/G] NM_001013838 RLTPR EXON Missense_R139Q exm1249481 16 67680664 [G/C] NM_001013838 RLTPR EXON Missense_P172A exm1249486 16 67680869 [A/G] NM_001013838 RLTPR EXON Missense_G202S exm1864536 16 67682157 [T/C] NM_001013838 RLTPR EXON Missense_S425F exm1249520 16 67682191 [C/G] NM_001013838 RLTPR EXON Missense_D436E exm1249528 16 67682800 [T/G] NM_001013838 RLTPR EXON Missense_R505L exm1249541 16 67683472 [A/C] NM_001013838 RLTPR EXON Missense_D623E exm1249567 16 67685613 [T/C] NM_001013838 RLTPR EXON Missense_T818I exm1864560 16 67685694 [A/G] NM_001013838 RLTPR EXON Missense_G845D exm1249575 16 67685730 [T/A] NM_001013838 RLTPR EXON Missense_D857V exm1249576 16 67685832 [A/G] NM_001013838 RLTPR EXON Missense_R866Q exm1249577 16 67685900 [T/C] NM_001013838 RLTPR EXON Missense_R889W exm1249597 16 67688103 [A/G] NM_001013838 RLTPR EXON Missense_E1058K exm1249610 16 67688564 [T/A] NM_001013838 RLTPR EXON Missense_E1184V exm1249611 16 67688567 [A/C] NM_001013838 RLTPR EXON Missense_E1185A exm1249613 16 67688684 [T/C] NM_001013838 RLTPR EXON Missense_R1196W exm1249614 16 67688685 [A/G] NM_001013838 RLTPR EXON Missense_R1196Q exm1864582 16 67690404 [T/G] NM_001013838 RLTPR EXON Missense_A1298S exm1249626 16 67690422 [C/G] NM_001013838 RLTPR EXON Missense_G1304R exm1249648 16 67691516 [A/G] NM_001082487,NM_022914,NM_001082486 ACD,ACD,ACD EXON Missense_P527L,Missense_P540L,Missense_P543L exm1249651 16 67691552 [A/G] NM_001082487,NM_022914,NM_001082486 ACD,ACD,ACD EXON Missense_F515S,Missense_F528S,Missense_F531S exm1249652 16 67691570 [A/G] NM_001082487,NM_022914,NM_001082486 ACD,ACD,ACD EXON Missense_M509T,Missense_M522T,Missense_M525T exm1249654 16 67691668 [A/G] NM_001082487,NM_022914,NM_001082486 ACD,ACD,ACD EXON Missense_V502A,Missense_V515A,Missense_V518A exm1249663 16 67691750 [T/G] NM_001082487,NM_022914,NM_001082486 ACD,ACD,ACD EXON Silent,Missense_P488T,Missense_P491T exm1249664 16 67691752 [T/G] NM_001082487,NM_022914,NM_001082486 ACD,ACD,ACD EXON Silent,Missense_P487H,Missense_P490H exm1249667 16 67691947 [T/C] NM_001082487,NM_022914,NM_001082486 ACD,ACD,ACD EXON Missense_R466Q,Missense_R466Q,Missense_R469Q exm1249678 16 67692172 [T/C] NM_001082487,NM_022914,NM_001082486 ACD,ACD,ACD EXON Missense_G391E,Missense_G391E,Missense_G394E exm1864600 16 67692494 [C/G] NM_001082487,NM_022914,NM_001082486 ACD,ACD,ACD EXON Missense_L348V,Missense_L348V,Missense_L351V exm1249688 16 67692520 [A/G] NM_001082487,NM_022914,NM_001082486 ACD,ACD,ACD EXON Missense_P339L,Missense_P339L,Missense_P342L exm1249696 16 67692863 [T/C] NM_001082487,NM_022914,NM_001082486 ACD,ACD,ACD EXON Missense_T288A,Missense_T288A,Missense_T291A exm1249721 16 67693939 [T/C] NM_001082487,NM_022914,NM_001082486 ACD,ACD,ACD EXON Missense_D120N,Missense_D120N,Missense_D123N exm1249724 16 67694078 [T/G] NM_001082487,NM_022914,NM_001082486 ACD,ACD,ACD EXON Missense_L102M,Missense_L102M,Missense_L102M exm1249727 16 67694102 [T/C] NM_001082487,NM_022914,NM_001082486 ACD,ACD,ACD EXON Missense_V94I,Missense_V94I,Missense_V94I exm1249767 16 67696291 [A/G] NM_016948,NM_001037281 PARD6A,PARD6A EXON Missense_G261E,Missense_G260E exm1249769 16 67696365 [A/G] NM_016948,NM_001037281 PARD6A,PARD6A EXON Missense_V286I,Missense_V285I exm1864630 16 67696387 [G/C] NM_016948,NM_001037281 PARD6A,PARD6A EXON Missense_P293R,Missense_P292R exm1249783 16 67697180 [T/C] NM_032140 ENKD1 EXON Missense_A309T exm1249785 16 67697198 [T/C] NM_032140 ENKD1 EXON Missense_V303I exm1249786 16 67697207 [A/G] NM_032140 ENKD1 EXON Missense_R300C exm1249797 16 67697591 [T/C] NM_032140 ENKD1 EXON Missense_N238D exm1249799 16 67697633 [T/C] NM_032140 ENKD1 EXON Missense_A224T exm1249801 16 67697696 [A/G] NM_032140 ENKD1 EXON Missense_R203C exm1249803 16 67697848 [A/C] NM_032140 ENKD1 EXON Nonsense_E191X exm1249815 16 67698987 [T/C] NM_032140 ENKD1 EXON Missense_R122Q exm1249818 16 67699054 [A/G] NM_032140 ENKD1 EXON Missense_H100Y exm-rs12449157 16 67708897 [A/G] NM_030819,NR_027398 GFOD2,GFOD2 EXON Silent,Silent exm1249885 16 67709072 [A/G] NM_030819,NR_027398 GFOD2,GFOD2 EXON Missense_R382W,Silent exm1249892 16 67709210 [T/C] NM_030819,NR_027398 GFOD2,GFOD2 EXON Missense_A336T,Silent exm1249894 16 67709218 [A/G] NM_030819,NR_027398 GFOD2,GFOD2 EXON Missense_S333F,Silent exm1249900 16 67709351 [T/C] NM_030819,NR_027398 GFOD2,GFOD2 EXON Missense_A289T,Silent exm1249910 16 67709582 [A/G] NM_030819,NR_027398 GFOD2,GFOD2 EXON Missense_R212C,Silent exm1249925 16 67709821 [T/C] NM_030819,NR_027398 GFOD2,GFOD2 EXON Missense_R132H,Silent exm1249935 16 67709955 [A/G] NM_030819,NR_027398 GFOD2,GFOD2 EXON Synonymous_G87G,Silent exm1249948 16 67719497 [A/G] NM_030819,NR_027398,NM_001243650 GFOD2,GFOD2,GFOD2 EXON Missense_A41V,Silent,Missense_A41V exm1250012 16 67765383 [T/C] NM_020850 RANBP10 EXON Missense_N294S exm1250015 16 67765426 [T/C] NM_020850 RANBP10 EXON Missense_M280V exm1250017 16 67768822 [T/C] NM_020850 RANBP10 EXON Missense_G239S exm1250018 16 67768824 [T/C] NM_020850 RANBP10 EXON Missense_Q238R exm1250022 16 67768861 [T/C] NM_020850 RANBP10 EXON Missense_I226V exm1250028 16 67771917 [A/G] NM_020850 RANBP10 EXON Missense_P197L exm2264618 16 67796315 [A/C] NM_020850 RANBP10 Silent exm1250054 16 67839386 [T/C] NM_020850 RANBP10 EXON Missense_A98T exm1250066 16 67840346 [T/C] NM_020850 RANBP10 EXON Missense_E32K exm1250072 16 67854781 [T/C] NM_018430 TSNAXIP1 EXON Missense_P9S exm1250074 16 67854841 [A/C] NM_018430 TSNAXIP1 EXON Synonymous_R29R exm1250075 16 67854842 [A/G] NM_018430 TSNAXIP1 EXON Missense_R29Q exm1864709 16 67855039 [T/C] NM_018430 TSNAXIP1 EXON Nonsense_Q46X exm1250086 16 67857576 [A/C] NM_018430 TSNAXIP1 EXON Nonsense_Y91X exm1250097 16 67859095 [A/G] NM_018430 TSNAXIP1 EXON Missense_R191Q exm1250098 16 67859098 [A/G] NM_018430 TSNAXIP1 EXON Missense_D192G exm1250100 16 67859163 [T/G] NM_018430 TSNAXIP1 EXON Missense_A214S exm1250101 16 67859170 [T/C] NM_018430 TSNAXIP1 EXON Missense_S216L exm1250104 16 67859635 [T/C] NM_018430 TSNAXIP1 EXON Missense_R240C exm1250105 16 67859639 [T/C] NM_018430 TSNAXIP1 EXON Missense_T241M exm1250108 16 67859819 [C/G] NM_018430 TSNAXIP1 Silent exm1864723 16 67859830 [T/C] NM_018430 TSNAXIP1 EXON Missense_L278P exm1250111 16 67859854 [A/G] NM_018430 TSNAXIP1 EXON Missense_R286H exm1250113 16 67859881 [T/C] NM_018430 TSNAXIP1 EXON Missense_L295P exm1250118 16 67859941 [A/G] NM_018430 TSNAXIP1 EXON Missense_R315H exm1250119 16 67859955 [T/C] NM_018430 TSNAXIP1 EXON Missense_R320W exm1250124 16 67860126 [A/G] NM_018430 TSNAXIP1 EXON Missense_V352M exm1250129 16 67860371 [A/G] NM_018430 TSNAXIP1 EXON Missense_R382Q exm1250132 16 67860448 [T/C] NM_018430 TSNAXIP1 EXON Missense_R408C exm1250136 16 67860637 [T/C] NM_018430 TSNAXIP1 EXON Missense_R428C exm1250139 16 67860689 [T/C] NM_018430 TSNAXIP1 EXON Missense_I445T exm1250142 16 67860866 [A/C] NM_018430 TSNAXIP1 EXON Synonymous_R465R exm1250143 16 67860867 [A/G] NM_018430 TSNAXIP1 EXON Missense_R465Q exm1250145 16 67860923 [A/C] NM_018430 TSNAXIP1 EXON Missense_M484L exm2277100 16 67860946 [T/C] NM_018430 TSNAXIP1 EXON Synonymous_N491N exm1864738 16 67860946 [A/C] NM_018430 TSNAXIP1 EXON Missense_N491K exm1250153 16 67861397 [T/C] NM_018430 TSNAXIP1 EXON Missense_P551S exm1250155 16 67861424 [T/C] NM_018430 TSNAXIP1 EXON Missense_Y560H exm1250169 16 67861837 [T/C] NM_018430 TSNAXIP1 EXON Missense_R640W exm1250176 16 67862420 [A/G] NM_025082 CENPT EXON Missense_R507C exm1250186 16 67862706 [G/C] NM_025082 CENPT EXON Missense_P441A exm1250187 16 67862715 [A/C] NM_025082 CENPT EXON Missense_V438F exm1250190 16 67863341 [A/G] NM_025082 CENPT EXON Missense_A422V exm1250196 16 67863713 [T/C] NM_025082 CENPT EXON Missense_G381R exm1250203 16 67863868 [A/C] NM_025082 CENPT EXON Missense_G329V exm1864763 16 67864395 [T/C] NM_025082 CENPT EXON Missense_V254M exm1250214 16 67864448 [A/G] NM_025082 CENPT EXON Missense_I236T exm1250230 16 67865924 [T/C] NM_025082 CENPT EXON Missense_S126N exm1250231 16 67865928 [T/A] NM_025082 CENPT EXON Missense_S125C exm1250232 16 67865937 [T/C] NM_025082 CENPT EXON Missense_R122G exm1250233 16 67865940 [A/C] NM_025082 CENPT EXON Missense_S121A exm1250234 16 67865957 [A/G] NM_025082 CENPT EXON Missense_P115L exm1250235 16 67866009 [A/G] NM_025082 CENPT EXON Missense_P98S exm1250243 16 67866437 [T/G] NM_025082 CENPT EXON Missense_A41D exm1250244 16 67866443 [T/C] NM_025082 CENPT EXON Missense_R39Q exm2276452 16 67866444 [A/G] NM_025082 CENPT EXON Missense_R39W exm1250248 16 67867696 [T/C] NM_025082 CENPT EXON Missense_A23T exm1864784 16 67876926 [G/C] NM_025082,NM_020457 CENPT,THAP11 EXON Silent,Missense_L157V exm1250296 16 67876980 [C/G] NM_025082,NM_020457 CENPT,THAP11 EXON Silent,Missense_P175A exm-rs2271293 16 67902070 [A/G] NM_005796 NUTF2 Silent exm1250339 16 67911257 [A/G] NM_014329 EDC4 EXON Missense_E197K exm-rs8060686 16 67911517 [T/C] NM_014329 EDC4 EXON Synonymous_C249C exm1250348 16 67911677 [A/G] NM_014329 EDC4 EXON Missense_S275G exm1250366 16 67913001 [A/G] NM_014329 EDC4 EXON Missense_V477M exm1250367 16 67913011 [T/C] NM_014329 EDC4 EXON Missense_A480V exm1250383 16 67913572 [C/G] NM_014329 EDC4 EXON Missense_I572M exm1250387 16 67913645 [A/G] NM_014329 EDC4 EXON Missense_A597T exm1250392 16 67913783 [A/G] NM_014329 EDC4 EXON Missense_G618S exm1250393 16 67913804 [A/G] NM_014329 EDC4 EXON Missense_S625G exm1250396 16 67913976 [A/G] NM_014329 EDC4 EXON Missense_E652K exm1250409 16 67914730 [A/G] NM_014329 EDC4 EXON Missense_G790S exm1250421 16 67915229 [C/G] NM_014329 EDC4 EXON Missense_P900A exm1250425 16 67915284 [T/C] NM_014329 EDC4 EXON Missense_S918L exm1250436 16 67915863 [T/G] NM_014329 EDC4 EXON Missense_R1004L exm1250442 16 67916165 [A/G] NM_014329 EDC4 EXON Missense_A1071T exm1250451 16 67916606 [T/C] NM_014329 EDC4 EXON Missense_M1156T exm1250481 16 67918809 [A/G] NM_198443 NRN1L EXON Missense_M1I exm1250482 16 67918812 [T/G] NM_198443 NRN1L EXON Missense_M2I exm1250490 16 67919679 [T/C] NM_198443 NRN1L EXON Missense_I45T exm1250493 16 67919696 [A/G] NM_198443 NRN1L EXON Missense_E51K exm1250497 16 67919730 [T/G] NM_198443 NRN1L EXON Missense_R62L exm1250500 16 67919906 [T/C] NM_198443 NRN1L EXON Missense_S81F exm1250502 16 67919930 [A/C] NM_198443 NRN1L EXON Missense_E89A exm1864873 16 67919981 [A/C] NM_198443 NRN1L EXON Missense_P106H exm1864874 16 67919983 [T/C] NM_198443 NRN1L EXON Missense_R107C exm1864875 16 67919987 [G/C] NM_198443 NRN1L EXON Missense_P108R exm1250506 16 67920009 [A/C] NM_198443 NRN1L EXON Nonsense_C115X exm2225136 16 67920029 [A/G] NM_198443 NRN1L EXON Missense_R122Q exm1250515 16 67920109 [T/C] NM_198443 NRN1L EXON Missense_P149S exm-rs16942887 16 67928042 [A/G] NM_006742 PSKH1 Silent exm2274850 16 67942803 [A/G] NM_006742 PSKH1 EXON Missense_G51R exm1250527 16 67942842 [A/G] NM_006742 PSKH1 EXON Missense_G64S exm1250528 16 67942849 [T/C] NM_006742 PSKH1 EXON Missense_P66L exm1250535 16 67943050 [A/G] NM_006742 PSKH1 EXON Missense_Y133C exm1250536 16 67943051 [C/G] NM_006742 PSKH1 EXON Nonsense_Y133X exm1250541 16 67943160 [A/G] NM_006742 PSKH1 EXON Missense_M170V exm1250542 16 67943200 [A/G] NM_006742 PSKH1 EXON Missense_R183H exm1250559 16 67961375 [T/C] NM_006742 PSKH1 EXON Missense_R369C exm1250562 16 67961412 [T/C] NM_006742 PSKH1 EXON Missense_S381L exm1250569 16 67961495 [T/C] NM_006742 PSKH1 EXON Missense_R409W exm1250577 16 67963925 [A/G] NM_001907 CTRL EXON Missense_T236I exm1250578 16 67963973 [A/C] NM_001907 CTRL EXON Missense_C220F exm1250579 16 67963974 [A/C] NM_001907 CTRL EXON Missense_C220G exm1250585 16 67964203 [T/C] NM_001907 CTRL EXON Missense_H173R exm1250587 16 67964349 [A/G] NM_001907 CTRL EXON Missense_T154M exm1250589 16 67964359 [C/G] NM_001907 CTRL EXON Missense_E151Q exm1250590 16 67964361 [A/G] NM_001907 CTRL EXON Missense_T150I exm1250595 16 67964475 [T/C] NM_001907 CTRL EXON Missense_S112N exm1864917 16 67964836 [A/G] NM_001907 CTRL EXON Missense_H75Y exm2225138 16 67965002 [T/C] NM_001907 CTRL EXON Missense_Q52R exm1250608 16 67965013 [G/C] NM_001907 CTRL EXON Missense_Q48H exm1250609 16 67965047 [T/C] NM_001907 CTRL EXON Missense_G37E exm1250612 16 67965087 [A/T] NM_001907 CTRL EXON Missense_I24F exm1250613 16 67965099 [T/C] NM_001907 CTRL EXON Missense_G20S exm1250615 16 67965712 [T/G] NM_001907 CTRL EXON Missense_S15Y exm1250617 16 67965751 [A/G] NM_001907 CTRL EXON Missense_L2S exm1250626 16 67968707 [T/C] NM_002801 PSMB10 EXON Missense_V235M exm1250633 16 67968832 [A/G] NM_002801 PSMB10 EXON Missense_L193P exm1864923 16 67969333 [C/G] NM_002801 PSMB10 EXON Missense_P183R exm1250636 16 67969505 [T/C] NM_002801 PSMB10 EXON Missense_R160H exm1250656 16 67970596 [T/C] NM_002801 PSMB10 Silent exm1250657 16 67970600 [T/G] NM_002801 PSMB10 EXON Missense_Q18P exm2252682 16 67973953 [A/G] NM_000229 LCAT EXON Synonymous_L393L exm1250689 16 67976320 [T/A] NM_000229 LCAT EXON Missense_S232T exm2252683 16 67976602 [A/G] NM_000229 LCAT EXON Synonymous_A165A exm1250707 16 67976823 [T/C] NM_000229 LCAT EXON Missense_R123H exm1250709 16 67976851 [T/C] NM_000229 LCAT EXON Missense_V114M exm1250725 16 67978795 [T/C] NM_001145964,NM_005072,NM_001145963,NM_001145962,NM_001145961 SLC12A4,SLC12A4,SLC12A4,SLC12A4,SLC12A4 EXON Missense_R1038Q,Missense_R1069Q,Missense_R1063Q,Missense_R1071Q,Missense_R1063Q exm1250733 16 67979061 [T/C] NM_001145964,NM_005072,NM_001145963,NM_001145962,NM_001145961 SLC12A4,SLC12A4,SLC12A4,SLC12A4,SLC12A4 EXON Missense_R1001H,Missense_R1032H,Missense_R1026H,Missense_R1034H,Missense_R1026H exm1250743 16 67979422 [T/C] NM_001145964,NM_005072,NM_001145963,NM_001145962,NM_001145961 SLC12A4,SLC12A4,SLC12A4,SLC12A4,SLC12A4 EXON Missense_R930Q,Missense_R961Q,Missense_R955Q,Missense_R963Q,Missense_R955Q exm1864966 16 67979678 [A/G] NM_001145964,NM_005072,NM_001145963,NM_001145962,NM_001145961 SLC12A4,SLC12A4,SLC12A4,SLC12A4,SLC12A4 EXON Missense_R915W,Missense_R946W,Missense_R940W,Missense_R948W,Missense_R940W exm1250770 16 67980361 [T/C] NM_001145964,NM_005072,NM_001145963,NM_001145962,NM_001145961 SLC12A4,SLC12A4,SLC12A4,SLC12A4,SLC12A4 EXON Missense_R775H,Missense_R806H,Missense_R800H,Missense_R808H,Missense_R806H exm1250780 16 67980977 [T/C] NM_001145964,NM_005072,NM_001145963,NM_001145962,NM_001145961 SLC12A4,SLC12A4,SLC12A4,SLC12A4,SLC12A4 EXON Missense_E671K,Missense_E702K,Missense_E696K,Missense_E704K,Missense_E702K exm1250784 16 67981270 [T/C] NM_001145964,NM_005072,NM_001145963,NM_001145962,NM_001145961 SLC12A4,SLC12A4,SLC12A4,SLC12A4,SLC12A4 EXON Missense_R648Q,Missense_R679Q,Missense_R673Q,Missense_R681Q,Missense_R679Q exm1250791 16 67981632 [T/C] NM_001145964,NM_005072,NM_001145963,NM_001145962,NM_001145961 SLC12A4,SLC12A4,SLC12A4,SLC12A4,SLC12A4 EXON Missense_Y605C,Missense_Y636C,Missense_Y630C,Missense_Y638C,Missense_Y636C exm1250801 16 67983745 [A/G] NM_001145964,NM_005072,NM_001145963,NM_001145962,NM_001145961 SLC12A4,SLC12A4,SLC12A4,SLC12A4,SLC12A4 EXON Missense_I538T,Missense_I569T,Missense_I563T,Missense_I571T,Missense_I569T exm1250808 16 67984268 [T/C] NM_001145964,NM_005072,NM_001145963,NM_001145962,NM_001145961 SLC12A4,SLC12A4,SLC12A4,SLC12A4,SLC12A4 EXON Missense_R497H,Missense_R528H,Missense_R522H,Missense_R530H,Missense_R528H exm1250811 16 67984293 [A/G] NM_001145964,NM_005072,NM_001145963,NM_001145962,NM_001145961 SLC12A4,SLC12A4,SLC12A4,SLC12A4,SLC12A4 EXON Missense_L489F,Missense_L520F,Missense_L514F,Missense_L522F,Missense_L520F exm1250828 16 67985076 [T/C] NM_001145964,NM_005072,NM_001145963,NM_001145962,NM_001145961 SLC12A4,SLC12A4,SLC12A4,SLC12A4,SLC12A4 EXON Missense_V391M,Missense_V422M,Missense_V416M,Missense_V424M,Missense_V422M exm1250830 16 67985114 [A/G] NM_001145964,NM_005072,NM_001145963,NM_001145962,NM_001145961 SLC12A4,SLC12A4,SLC12A4,SLC12A4,SLC12A4 EXON Missense_P378L,Missense_P409L,Missense_P403L,Missense_P411L,Missense_P409L exm1250836 16 67985812 [A/G] NM_001145964,NM_005072,NM_001145963,NM_001145962,NM_001145961 SLC12A4,SLC12A4,SLC12A4,SLC12A4,SLC12A4 EXON Missense_T318M,Missense_T349M,Missense_T343M,Missense_T351M,Missense_T349M exm1250842 16 67986094 [T/C] NM_001145964,NM_005072,NM_001145963,NM_001145962,NM_001145961 SLC12A4,SLC12A4,SLC12A4,SLC12A4,SLC12A4 EXON Missense_V273M,Missense_V304M,Missense_V298M,Missense_V306M,Missense_V304M exm1250867 16 67991805 [T/C] NM_001145964,NM_005072,NM_001145963,NM_001145962,NM_001145961 SLC12A4,SLC12A4,SLC12A4,SLC12A4,SLC12A4 EXON Missense_C131Y,Missense_C162Y,Missense_C156Y,Missense_C164Y,Missense_C162Y exm1250890 16 67997920 [T/C] NM_001145964,NM_005072,NM_001145963,NM_001145962,NM_001145961 SLC12A4,SLC12A4,SLC12A4,SLC12A4,SLC12A4 EXON Silent,Silent,Missense_E4G,Silent,Silent exm1250894 16 68002391 [A/C] NM_005072,NM_001145962,NM_001145961 SLC12A4,SLC12A4,SLC12A4 EXON Synonymous_G22G,Missense_G56V,Synonymous_G22G exm1865047 16 68009830 [T/G] NM_022357,NM_001129758 DPEP3,DPEP3 EXON Missense_H460Q,Missense_H459Q exm1250908 16 68009879 [T/C] NM_022357,NM_001129758 DPEP3,DPEP3 EXON Missense_S444N,Missense_S443N exm1250912 16 68010634 [T/C] NM_022357,NM_001129758 DPEP3,DPEP3 EXON Missense_G380R,Missense_G379R exm2252685 16 68011591 [A/G] NM_022357,NM_001129758 DPEP3,DPEP3 EXON Synonymous_L325L,Synonymous_L325L exm1250920 16 68011654 [C/G] NM_022357,NM_001129758 DPEP3,DPEP3 EXON Missense_L304V,Missense_L304V exm1250924 16 68011867 [T/C] NM_022357,NM_001129758 DPEP3,DPEP3 EXON Missense_V269I,Missense_V269I exm1250925 16 68012207 [A/G] NM_022357,NM_001129758 DPEP3,DPEP3 EXON Missense_R242C,Missense_R242C exm1250926 16 68012210 [T/C] NM_022357,NM_001129758 DPEP3,DPEP3 EXON Missense_V241M,Missense_V241M exm1250935 16 68012480 [T/C] NM_022357,NM_001129758 DPEP3,DPEP3 EXON Missense_R180H,Missense_R180H exm-rs255049 16 68013471 [T/C] NM_022357,NM_001129758 DPEP3,DPEP3 Silent,Silent exm1250941 16 68013559 [T/C] NM_022357,NM_001129758 DPEP3,DPEP3 EXON Missense_G158S,Missense_G158S exm1250942 16 68013570 [T/C] NM_022357,NM_001129758 DPEP3,DPEP3 EXON Missense_R154K,Missense_R154K exm1250986 16 68024019 [T/C] NM_022355 DPEP2 EXON Missense_V309I exm1250993 16 68024732 [T/G] NM_022355 DPEP2 EXON Missense_Q301K exm1250998 16 68024827 [T/C] NM_022355 DPEP2 EXON Missense_R269Q exm-rs255052 16 68024995 [A/G] NM_022355 DPEP2 Silent exm1251005 16 68025065 [T/C] NM_022355 DPEP2 EXON Missense_V229I exm1251013 16 68025840 [T/G] NM_022355 DPEP2 EXON Missense_E188A exm1251017 16 68025998 [A/C] NM_022355 DPEP2 EXON Nonsense_Y163X exm1251022 16 68026059 [T/C] NM_022355 DPEP2 EXON Missense_R143Q exm1251023 16 68026063 [T/C] NM_022355 DPEP2 EXON Missense_D142N exm1251028 16 68026486 [T/G] NM_022355 DPEP2 EXON Missense_D106A exm1251033 16 68026862 [A/G] NM_022355 DPEP2 EXON Missense_L85P exm1865105 16 68026874 [T/C] NM_022355 DPEP2 EXON Missense_R81Q exm1251037 16 68026991 [A/G] NM_022355 DPEP2 EXON Missense_A42V exm1251046 16 68055496 [A/G] NM_018380 DDX28 EXON Missense_P537L exm1251056 16 68055809 [T/C] NM_018380 DDX28 EXON Missense_A433T exm1251066 16 68056148 [A/G] NM_018380 DDX28 EXON Missense_F320L exm1251072 16 68056229 [T/C] NM_018380 DDX28 EXON Missense_D293N exm1251075 16 68056276 [A/G] NM_018380 DDX28 EXON Missense_L277P exm1251078 16 68056375 [A/C] NM_018380 DDX28 EXON Missense_R244L exm1251080 16 68056400 [C/G] NM_018380 DDX28 EXON Missense_D236H exm2252688 16 68056497 [T/C] NM_018380 DDX28 EXON Synonymous_A203A exm1865122 16 68056661 [A/C] NM_018380 DDX28 EXON Missense_V149F exm1251094 16 68056703 [A/G] NM_018380 DDX28 EXON Missense_P135S exm1251096 16 68056712 [A/C] NM_018380 DDX28 EXON Missense_G132C exm1251099 16 68056764 [G/C] NM_018380 DDX28 EXON Missense_Q114H exm1251101 16 68056829 [T/C] NM_018380 DDX28 EXON Missense_A93T exm1251107 16 68056953 [C/G] NM_018380,NM_017803,NM_001271763,NM_001271762 DDX28,DUS2L,DUS2L,DUS2L EXON Missense_S51R,Silent,Silent,Silent exm1865128 16 68057008 [A/C] NM_018380,NM_017803,NM_001271763,NM_001271762 DDX28,DUS2L,DUS2L,DUS2L EXON Missense_L33R,Silent,Silent,Silent exm1251112 16 68057096 [T/C] NM_018380,NM_017803,NM_001271763,NM_001271762 DDX28,DUS2L,DUS2L,DUS2L EXON Missense_T4A,Silent,Silent,Silent exm1251113 16 68057101 [C/G] NM_018380,NM_017803,NM_001271763,NM_001271762 DDX28,DUS2L,DUS2L,DUS2L EXON Missense_A2G,Silent,Silent,Silent exm2267902 16 68068627 [A/G] NM_017803,NM_001271763,NM_001271762 DUS2L,DUS2L,DUS2L Silent,Silent,Silent exm1251125 16 68083442 [A/G] NM_017803,NM_001271763,NM_001271762 DUS2L,DUS2L,DUS2L EXON Missense_R54K,Missense_R54K,Missense_R54K exm1251139 16 68100247 [T/C] NM_017803,NM_001271763,NM_001271762 DUS2L,DUS2L,DUS2L EXON Missense_R149C,Missense_R114C,Missense_R149C exm1251143 16 68100496 [T/C] NM_017803,NM_001271763,NM_001271762 DUS2L,DUS2L,DUS2L EXON Missense_R171W,Missense_R136W,Missense_R171W exm1251150 16 68104042 [A/G] NM_017803,NM_001271763,NM_001271762 DUS2L,DUS2L,DUS2L EXON Missense_R187Q,Missense_R152Q,Missense_R187Q exm1251152 16 68104093 [T/C] NM_017803,NM_001271763,NM_001271762 DUS2L,DUS2L,DUS2L EXON Missense_A204V,Missense_A169V,Missense_A204V exm1251157 16 68104952 [A/G] NM_017803,NM_001271763,NM_001271762 DUS2L,DUS2L,DUS2L EXON Missense_I251V,Missense_I216V,Missense_I251V exm1251160 16 68104995 [A/G] NM_017803,NM_001271763,NM_001271762 DUS2L,DUS2L,DUS2L EXON Missense_Q265R,Missense_Q230R,Missense_Q265R exm1865155 16 68105011 [T/C] NM_017803,NM_001271763,NM_001271762 DUS2L,DUS2L,DUS2L EXON Synonymous_Y270Y,Synonymous_Y235Y,Synonymous_Y270Y exm1251162 16 68107938 [T/C] NM_017803,NM_001271763,NM_001271762 DUS2L,DUS2L,DUS2L EXON Missense_A271V,Missense_A236V,Missense_A271V exm1251166 16 68108031 [A/C] NM_017803,NM_001271763,NM_001271762 DUS2L,DUS2L,DUS2L EXON Missense_H302P,Missense_H267P,Missense_H302P exm1251168 16 68109332 [G/C] NM_017803,NM_001271763,NM_001271762 DUS2L,DUS2L,DUS2L EXON Missense_A336G,Missense_A301G,Missense_A336G exm1251170 16 68109406 [T/C] NM_017803,NM_001271763,NM_001271762 DUS2L,DUS2L,DUS2L EXON Missense_R361W,Missense_R326W,Missense_R361W exm1251175 16 68110621 [T/C] NM_017803,NM_001271763,NM_001271762 DUS2L,DUS2L,DUS2L EXON Missense_T390M,Missense_T355M,Missense_T390M exm1251176 16 68110622 [A/G] NM_017803,NM_001271763,NM_001271762 DUS2L,DUS2L,DUS2L EXON Synonymous_T390T,Synonymous_T355T,Synonymous_T390T exm1251179 16 68112408 [C/G] NM_017803,NM_001271763,NM_001271762 DUS2L,DUS2L,DUS2L EXON Missense_Q411E,Missense_Q376E,Missense_Q411E exm1251180 16 68112418 [T/C] NM_017803,NM_001271763,NM_001271762 DUS2L,DUS2L,DUS2L EXON Missense_L414S,Missense_L379S,Missense_L414S exm1251186 16 68112696 [A/G] NM_017803,NM_001271763,NM_001271762 DUS2L,DUS2L,DUS2L EXON Missense_C430Y,Missense_C395Y,Missense_C430Y exm1251187 16 68112725 [T/C] NM_017803,NM_001271763,NM_001271762 DUS2L,DUS2L,DUS2L EXON Missense_R440W,Missense_R405W,Missense_R440W exm1251189 16 68112767 [G/C] NM_017803,NM_001271763,NM_001271762 DUS2L,DUS2L,DUS2L EXON Missense_E454Q,Missense_E419Q,Missense_E454Q exm1865170 16 68112812 [C/G] NM_017803,NM_001271763,NM_001271762 DUS2L,DUS2L,DUS2L EXON Missense_A469P,Missense_A434P,Missense_A469P exm1251193 16 68119591 [A/G] NM_173165,NM_173163,NM_004555 NFATC3,NFATC3,NFATC3 EXON Missense_T3A,Missense_T3A,Missense_T3A exm1251201 16 68155996 [G/C] NM_173165,NM_173163,NM_004555 NFATC3,NFATC3,NFATC3 EXON Missense_H70Q,Missense_H70Q,Missense_H70Q exm1251203 16 68156067 [A/C] NM_173165,NM_173163,NM_004555 NFATC3,NFATC3,NFATC3 EXON Missense_E94A,Missense_E94A,Missense_E94A exm1251204 16 68156085 [T/C] NM_173165,NM_173163,NM_004555 NFATC3,NFATC3,NFATC3 EXON Missense_L100S,Missense_L100S,Missense_L100S exm1251205 16 68156099 [A/C] NM_173165,NM_173163,NM_004555 NFATC3,NFATC3,NFATC3 EXON Missense_P105T,Missense_P105T,Missense_P105T exm1251207 16 68156193 [T/C] NM_173165,NM_173163,NM_004555 NFATC3,NFATC3,NFATC3 EXON Missense_P136L,Missense_P136L,Missense_P136L exm1251208 16 68156198 [T/C] NM_173165,NM_173163,NM_004555 NFATC3,NFATC3,NFATC3 EXON Missense_R138W,Missense_R138W,Missense_R138W exm1251225 16 68156591 [A/T] NM_173165,NM_173163,NM_004555 NFATC3,NFATC3,NFATC3 EXON Missense_S269T,Missense_S269T,Missense_S269T exm1251229 16 68156733 [A/G] NM_173165,NM_173163,NM_004555 NFATC3,NFATC3,NFATC3 EXON Missense_H316R,Missense_H316R,Missense_H316R exm1251230 16 68156751 [A/G] NM_173165,NM_173163,NM_004555 NFATC3,NFATC3,NFATC3 EXON Missense_G322D,Missense_G322D,Missense_G322D exm1251232 16 68156829 [T/C] NM_173165,NM_173163,NM_004555 NFATC3,NFATC3,NFATC3 EXON Missense_A348V,Missense_A348V,Missense_A348V exm1251233 16 68156834 [A/G] NM_173165,NM_173163,NM_004555 NFATC3,NFATC3,NFATC3 EXON Missense_I350V,Missense_I350V,Missense_I350V exm1251234 16 68156891 [T/C] NM_173165,NM_173163,NM_004555 NFATC3,NFATC3,NFATC3 EXON Missense_R369W,Missense_R369W,Missense_R369W exm1251236 16 68156930 [T/C] NM_173165,NM_173163,NM_004555 NFATC3,NFATC3,NFATC3 EXON Missense_P382S,Missense_P382S,Missense_P382S exm1251242 16 68191796 [A/G] NM_173165,NM_173163,NM_004555 NFATC3,NFATC3,NFATC3 EXON Missense_I476V,Missense_I476V,Missense_I476V exm1251257 16 68208336 [A/G] NM_173165,NM_173163,NM_004555 NFATC3,NFATC3,NFATC3 EXON Missense_V612I,Missense_V612I,Missense_V612I exm1251267 16 68224786 [C/G] NM_173165,NM_173163,NM_004555 NFATC3,NFATC3,NFATC3 EXON Missense_D738E,Missense_D738E,Missense_D738E exm1251287 16 68225292 [T/C] NM_173165,NM_173163,NM_004555 NFATC3,NFATC3,NFATC3 EXON Missense_S907L,Missense_S907L,Missense_S907L exm1251288 16 68225305 [A/C] NM_173165,NM_173163,NM_004555 NFATC3,NFATC3,NFATC3 EXON Missense_Q911H,Missense_Q911H,Missense_Q911H exm1251296 16 68225435 [C/G] NM_173165,NM_173163,NM_004555 NFATC3,NFATC3,NFATC3 EXON Missense_P955A,Missense_P955A,Missense_P955A exm1251310 16 68248294 [A/G] NM_173165,NM_173163,NM_004555 NFATC3,NFATC3,NFATC3 EXON Silent,Silent,Missense_S1057G exm1251316 16 68255187 [C/G] NM_173165,NM_173163,NM_004555 NFATC3,NFATC3,NFATC3 EXON Silent,Missense_E1065D,Silent exm2225160 16 68260276 [A/G] NM_173165,NM_173163,NM_004555 NFATC3,NFATC3,NFATC3 EXON Missense_M1044V,Silent,Silent exm1251322 16 68260321 [T/G] NM_173165,NM_173163,NM_004555 NFATC3,NFATC3,NFATC3 EXON Missense_A1059S,Silent,Silent exm1251329 16 68264209 [C/G] NM_024939 ESRP2 EXON Missense_D692H exm1251330 16 68264212 [T/C] NM_024939 ESRP2 EXON Missense_A691T exm1251332 16 68264356 [T/C] NM_024939 ESRP2 EXON Missense_R667H exm1251338 16 68264793 [A/G] NM_024939 ESRP2 EXON Missense_P617S exm1251341 16 68264906 [G/C] NM_024939 ESRP2 EXON Missense_T579S exm1865240 16 68265182 [T/G] NM_024939 ESRP2 EXON Missense_Y537S exm1251350 16 68265239 [A/G] NM_024939 ESRP2 EXON Missense_A518V exm1251354 16 68265441 [A/C] NM_024939 ESRP2 EXON Missense_G486W exm1251362 16 68265730 [T/C] NM_024939 ESRP2 EXON Missense_R425Q exm1251365 16 68265776 [A/G] NM_024939 ESRP2 EXON Missense_R410C exm1251370 16 68265890 [T/A] NM_024939 ESRP2 EXON Missense_C372S exm1251376 16 68265946 [T/C] NM_024939 ESRP2 EXON Missense_R353Q exm1251382 16 68266178 [A/G] NM_024939 ESRP2 EXON Missense_T323I exm1251390 16 68266387 [C/G] NM_024939 ESRP2 EXON Missense_L281V exm1865258 16 68266508 [A/G] NM_024939 ESRP2 EXON Missense_R265C exm1251410 16 68267992 [T/C] NM_024939 ESRP2 EXON Missense_G116R exm1251432 16 68279421 [T/C] NM_012320 PLA2G15 EXON Missense_A31V exm1251449 16 68289186 [T/C] NM_012320 PLA2G15 EXON Synonymous_G135G exm1251457 16 68289720 [A/T] NM_012320 PLA2G15 EXON Missense_Y185F exm2252689 16 68289739 [T/C] NM_012320 PLA2G15 EXON Synonymous_P191P exm1251459 16 68289739 [T/C] NM_012320 PLA2G15 EXON Synonymous_P191P exm1251463 16 68289836 [A/G] NM_012320 PLA2G15 EXON Missense_V224M exm1251473 16 68293172 [A/G] NM_012320 PLA2G15 EXON Missense_Q284R exm1251494 16 68308661 [T/C] NM_003983,NM_001076785 SLC7A6,SLC7A6 EXON Missense_P11L,Missense_P11L exm1251500 16 68308875 [T/G] NM_003983,NM_001076785 SLC7A6,SLC7A6 EXON Missense_I82M,Missense_I82M exm1251509 16 68309129 [A/G] NM_003983,NM_001076785 SLC7A6,SLC7A6 EXON Missense_R167H,Missense_R167H exm1251510 16 68309144 [T/C] NM_003983,NM_001076785 SLC7A6,SLC7A6 EXON Missense_A172V,Missense_A172V exm1251518 16 68324355 [T/C] NM_003983,NM_001076785 SLC7A6,SLC7A6 EXON Missense_L236F,Missense_L236F exm1251521 16 68325203 [A/T] NM_003983,NM_001076785 SLC7A6,SLC7A6 EXON Missense_S296T,Missense_S296T exm1251524 16 68325566 [T/C] NM_003983,NM_001076785 SLC7A6,SLC7A6 Silent,Silent exm1251532 16 68330381 [T/C] NM_003983,NM_001076785 SLC7A6,SLC7A6 EXON Missense_R412C,Missense_R412C exm1251534 16 68330397 [A/G] NM_003983,NM_001076785 SLC7A6,SLC7A6 EXON Missense_K417R,Missense_K417R exm1251539 16 68330630 [T/C] NM_003983,NM_001076785 SLC7A6,SLC7A6 EXON Missense_I457T,Missense_I457T exm1865351 16 68331179 [T/C] NM_003983,NM_001076785 SLC7A6,SLC7A6 EXON Missense_L499P,Missense_L499P exm1251550 16 68331194 [T/C] NM_003983,NM_001076785 SLC7A6,SLC7A6 EXON Missense_V504A,Missense_V504A exm1251564 16 68336371 [T/C] NM_032178 SLC7A6OS EXON Missense_D238N exm1865360 16 68336400 [T/C] NM_032178 SLC7A6OS EXON Missense_N228S exm1251567 16 68337948 [T/C] NM_032178 SLC7A6OS EXON Missense_Y220C exm1251569 16 68337958 [T/C] NM_032178 SLC7A6OS EXON Missense_V217M exm1251573 16 68337993 [A/G] NM_032178 SLC7A6OS EXON Missense_T205M exm1251578 16 68338027 [T/C] NM_032178 SLC7A6OS EXON Missense_D194N exm1251585 16 68344329 [T/C] NM_032178 SLC7A6OS EXON Missense_N127S exm1251591 16 68344492 [G/C] NM_032178 SLC7A6OS EXON Missense_R73G exm1251595 16 68344687 [T/C] NM_032178 SLC7A6OS EXON Missense_R48K exm1251596 16 68344696 [T/C] NM_032178 SLC7A6OS EXON Missense_G45D exm1251599 16 68344760 [T/C] NM_032178 SLC7A6OS EXON Missense_V24M exm1251607 16 68349938 [A/G] NM_001184824,NM_019023 PRMT7,PRMT7 EXON Missense_E19G,Missense_E19G exm1251618 16 68358712 [A/G] NM_001184824,NM_019023 PRMT7,PRMT7 EXON Silent,Missense_A87T exm1251640 16 68373384 [A/G] NM_001184824,NM_019023 PRMT7,PRMT7 EXON Missense_A172T,Missense_A222T exm1251666 16 68380047 [T/G] NM_001184824,NM_019023 PRMT7,PRMT7 Silent,Silent exm1251668 16 68380071 [A/G] NM_001184824,NM_019023 PRMT7,PRMT7 EXON Missense_R310H,Missense_R360H exm1251673 16 68380118 [T/C] NM_001184824,NM_019023 PRMT7,PRMT7 EXON Missense_R326W,Missense_R376W exm1251677 16 68381186 [C/G] NM_001184824,NM_019023 PRMT7,PRMT7 EXON Missense_G372R,Missense_G422R exm1251691 16 68386206 [A/G] NM_001184824,NM_019023 PRMT7,PRMT7 EXON Missense_N440S,Missense_N490S exm1251704 16 68387458 [A/G] NM_001184824,NM_019023 PRMT7,PRMT7 EXON Missense_D497N,Missense_D547N exm1251709 16 68389627 [A/G] NM_001184824,NM_019023 PRMT7,PRMT7 EXON Missense_R501H,Missense_R551H exm2276454 16 68391047 [A/C] NM_001184824,NM_019023 PRMT7,PRMT7 EXON Missense_T617P,Missense_T667P exm1251738 16 68395161 [T/G] NM_018667 SMPD3 EXON Missense_H639P exm1251766 16 68397716 [A/G] NM_018667 SMPD3 EXON Missense_R537C exm1251774 16 68398690 [T/C] NM_018667 SMPD3 EXON Missense_V507I exm1251776 16 68398693 [T/C] NM_018667 SMPD3 EXON Missense_V506I exm1251778 16 68398714 [T/C] NM_018667 SMPD3 EXON Missense_E499K exm2252690 16 68404801 [A/G] NM_018667 SMPD3 EXON Synonymous_N428N exm1251791 16 68404837 [T/C] NM_018667 SMPD3 EXON Missense_M416I exm1251796 16 68404908 [T/C] NM_018667 SMPD3 EXON Missense_G393S exm1251811 16 68405061 [T/C] NM_018667 SMPD3 EXON Missense_D342N exm1251813 16 68405079 [A/G] NM_018667 SMPD3 EXON Missense_R336C exm1251841 16 68405360 [T/G] NM_018667 SMPD3 EXON Missense_A242D exm1251851 16 68405428 [T/G] NM_018667 SMPD3 EXON Missense_H219Q exm1251852 16 68405433 [A/G] NM_018667 SMPD3 EXON Missense_R218W exm1251854 16 68405450 [T/C] NM_018667 SMPD3 EXON Missense_Y212C exm2252691 16 68405500 [A/C] NM_018667 SMPD3 EXON Synonymous_G195G exm1251873 16 68405673 [A/G] NM_018667 SMPD3 EXON Missense_L138F exm1251875 16 68405694 [C/G] NM_018667 SMPD3 EXON Missense_V131L exm1251888 16 68405993 [A/C] NM_018667 SMPD3 EXON Missense_V31G exm2272446 16 68536105 [T/G] exm-rs1728785 16 68591230 [A/C] NM_133458 ZFP90 Silent exm1251906 16 68597030 [T/C] NM_133458 ZFP90 EXON Missense_H114Y exm1251911 16 68597219 [T/C] NM_133458 ZFP90 EXON Missense_P177S exm1251914 16 68597330 [A/G] NM_133458 ZFP90 EXON Missense_D214N exm1251923 16 68597641 [A/C] NM_133458 ZFP90 EXON Missense_K317N exm1251929 16 68597997 [C/G] NM_133458 ZFP90 EXON Missense_S436C exm1251934 16 68598119 [T/C] NM_133458 ZFP90 EXON Missense_P477S exm-rs17689437 16 68600351 [T/C] NM_133458 ZFP90 EXON Silent exm-rs6499188 16 68674788 [A/G] exm1251957 16 68710362 [A/G] NM_001793 CDH3 EXON Missense_E79K exm1251960 16 68712043 [A/G] NM_001793 CDH3 EXON Missense_R85G exm1251977 16 68713815 [A/C] NM_001793 CDH3 EXON Missense_M269L exm1251980 16 68713831 [A/G] NM_001793 CDH3 EXON Missense_R274Q exm1251985 16 68714912 [T/G] NM_001793 CDH3 EXON Missense_M303I exm1251997 16 68716295 [T/C] NM_001793 CDH3 EXON Missense_R363C exm1252002 16 68716325 [A/G] NM_001793 CDH3 EXON Missense_D373N exm1252014 16 68718588 [A/G] NM_001793 CDH3 EXON Missense_V429I exm1252026 16 68719113 [A/G] NM_001793 CDH3 EXON Missense_R477H exm1252027 16 68719119 [T/C] NM_001793 CDH3 EXON Missense_L479P exm1252037 16 68719251 [A/G] NM_001793 CDH3 EXON Missense_N523S exm2252692 16 68721470 [T/C] NM_001793 CDH3 EXON Synonymous_N542N exm1252046 16 68721525 [A/G] NM_001793 CDH3 EXON Missense_V561M exm1252047 16 68721533 [C/G] NM_001793 CDH3 EXON Missense_Q563H exm1252048 16 68721534 [A/G] NM_001793 CDH3 EXON Missense_V564M exm1252052 16 68721547 [T/C] NM_001793 CDH3 EXON Missense_T568M exm1252057 16 68721619 [T/C] NM_001793 CDH3 EXON Missense_T592M exm1252062 16 68725769 [T/C] NM_001793 CDH3 EXON Missense_P648S exm1252075 16 68729737 [T/C] NM_001793 CDH3 EXON Missense_R731C exm1252085 16 68732169 [A/G] NM_001793 CDH3 EXON Missense_G786S exm2252693 16 68732174 [T/C] NM_001793 CDH3 EXON Synonymous_S787S exm2267903 16 68749663 [A/G] exm1252100 16 68772239 [A/C] NM_004360 CDH1 EXON Missense_P30T exm1252118 16 68842734 [T/C] NM_004360 CDH1 EXON Missense_R224C exm1252124 16 68845600 [A/G] NM_004360 CDH1 EXON Missense_M282I exm1252125 16 68845646 [A/G] NM_004360 CDH1 EXON Missense_A298T exm2274852 16 68846047 [A/G] NM_004360 CDH1 EXON Missense_T340A exm1252135 16 68847221 [C/G] NM_004360 CDH1 EXON Missense_K381N exm1252155 16 68849514 [A/G] NM_004360 CDH1 EXON Missense_V473I exm2225172 16 68849520 [A/G] NM_004360 CDH1 EXON Missense_V475M exm1252164 16 68855966 [A/G] NM_004360 CDH1 EXON Missense_A592T exm1252167 16 68856041 [A/G] NM_004360 CDH1 EXON Missense_A617T exm2252695 16 68856088 [T/C] NM_004360 CDH1 EXON Synonymous_H632H exm1252175 16 68857385 [T/A] NM_004360 CDH1 EXON Missense_N674Y exm1252180 16 68857469 [A/G] NM_004360 CDH1 EXON Missense_E702K exm1252194 16 68863674 [A/G] NM_004360 CDH1 EXON Missense_D805N exm1252201 16 68867247 [A/G] NM_004360 CDH1 EXON Missense_V832M exm1252202 16 68867265 [A/G] NM_004360 CDH1 EXON Missense_S838G exm1865596 16 68867388 [A/G] NM_004360 CDH1 EXON Missense_G879S exm2225174 16 68867391 [A/G] NM_004360 CDH1 EXON Missense_E880K exm1252223 16 68894024 [A/G] NM_024562 TANGO6 EXON Missense_R111H exm1252230 16 68894224 [A/G] NM_024562 TANGO6 EXON Missense_V178I exm1252233 16 68894264 [G/C] NM_024562 TANGO6 EXON Missense_A191G exm1252234 16 68894270 [A/G] NM_024562 TANGO6 EXON Missense_R193Q exm1865606 16 68894357 [A/G] NM_024562 TANGO6 EXON Missense_D222G exm1252243 16 68901034 [A/G] NM_024562 TANGO6 EXON Missense_R302Q exm1252250 16 68909057 [T/C] NM_024562 TANGO6 EXON Missense_A332V exm1252251 16 68909065 [A/G] NM_024562 TANGO6 EXON Missense_A335T exm1252252 16 68909090 [T/C] NM_024562 TANGO6 EXON Missense_T343M exm1252253 16 68909115 [A/C] NM_024562 TANGO6 EXON Missense_D351E exm1252257 16 68912085 [T/C] NM_024562 TANGO6 EXON Missense_T399I exm2225178 16 68934392 [T/C] NM_024562 TANGO6 EXON Missense_V478A exm1252267 16 68936305 [T/G] NM_024562 TANGO6 EXON Missense_G522V exm1252268 16 68936311 [T/C] NM_024562 TANGO6 EXON Missense_A524V exm2225179 16 68943133 [T/C] NM_024562 TANGO6 EXON Missense_S607L exm1252287 16 68953070 [T/C] NM_024562 TANGO6 EXON Missense_T692M exm1252294 16 68961576 [T/C] NM_024562 TANGO6 EXON Missense_R745C exm1252305 16 68961901 [C/G] NM_024562 TANGO6 EXON Missense_T853R exm1252313 16 69007951 [A/G] NM_024562 TANGO6 EXON Missense_V908I exm1252319 16 69056871 [A/G] NM_024562 TANGO6 EXON Missense_V995M exm1252322 16 69074247 [A/G] NM_024562 TANGO6 EXON Missense_G1011S exm2252696 16 69076621 [T/C] NM_024562 TANGO6 Silent exm1252335 16 69117397 [T/G] NM_024562 TANGO6 EXON Missense_A1040S exm1252338 16 69117457 [A/G] NM_024562 TANGO6 EXON Missense_V1060M exm1252339 16 69117465 [T/G] NM_024562 TANGO6 EXON Missense_K1062N exm1252344 16 69117506 [T/C] NM_024562 TANGO6 EXON Missense_M1076T exm-rs8047014 16 69135049 [A/C] exm1252348 16 69143315 [T/C] NM_001199280,NM_138612,NM_005329 HAS3,HAS3,HAS3 EXON Missense_T6M,Missense_T6M,Missense_T6M exm1252358 16 69143501 [A/G] NM_001199280,NM_138612,NM_005329 HAS3,HAS3,HAS3 EXON Missense_R68Q,Missense_R68Q,Missense_R68Q exm1252359 16 69143510 [A/G] NM_001199280,NM_138612,NM_005329 HAS3,HAS3,HAS3 EXON Missense_R71Q,Missense_R71Q,Missense_R71Q exm1252360 16 69143512 [T/C] NM_001199280,NM_138612,NM_005329 HAS3,HAS3,HAS3 EXON Missense_R72C,Missense_R72C,Missense_R72C exm1252367 16 69143602 [T/C] NM_001199280,NM_138612,NM_005329 HAS3,HAS3,HAS3 EXON Missense_R102C,Missense_R102C,Missense_R102C exm1252382 16 69143816 [A/G] NM_001199280,NM_138612,NM_005329 HAS3,HAS3,HAS3 EXON Missense_R173H,Missense_R173H,Missense_R173H exm1252421 16 69149084 [G/C] NM_001199280,NM_138612,NM_005329 HAS3,HAS3,HAS3 EXON Missense_A526G,Silent,Missense_A526G exm1252430 16 69152282 [A/G] NM_138612,NM_001040146,NM_001039690,NR_033227 HAS3,CHTF8,CHTF8,CHTF8 EXON Missense_E255K,Silent,Silent,Silent exm1252471 16 69170741 [T/G] NM_032830 CIRH1A EXON Missense_G101V exm1865699 16 69173755 [A/C] NM_032830 CIRH1A EXON Missense_P155H exm1252477 16 69177089 [T/G] NM_032830 CIRH1A EXON Missense_V179F exm1252511 16 69189792 [T/C] NM_032830 CIRH1A EXON Missense_C395R exm1252522 16 69191012 [A/G] NM_032830 CIRH1A EXON Missense_R438H exm1252526 16 69191075 [A/G] NM_032830 CIRH1A EXON Missense_G459E exm1252535 16 69197034 [A/G] NM_032830 CIRH1A EXON Missense_I534V exm1252540 16 69199289 [T/C] NM_032830 CIRH1A EXON Missense_R565W exm1252546 16 69201045 [A/G] NM_032830 CIRH1A EXON Missense_R634Q exm1252548 16 69201050 [T/C] NM_032830 CIRH1A EXON Missense_R636C exm1252549 16 69201051 [A/G] NM_032830 CIRH1A EXON Missense_R636H exm2260581 16 69224615 [T/C] NM_006750 SNTB2 Silent exm1252575 16 69279601 [A/G] NM_006750 SNTB2 EXON Missense_S226N exm1252582 16 69294122 [A/G] NM_006750 SNTB2 EXON Missense_G322S exm1252590 16 69318040 [A/C] NM_006750 SNTB2 EXON Missense_E413A exm2252698 16 69334737 [G/C] NM_006750 SNTB2 EXON Synonymous_T511T exm2225188 16 69334763 [T/C] NM_006750 SNTB2 EXON Missense_P520L exm1252613 16 69350175 [A/G] NM_013245 VPS4A EXON Missense_V61M exm1252615 16 69350256 [A/G] NM_013245 VPS4A EXON Missense_N88D exm1252638 16 69355024 [A/G] NM_013245 VPS4A EXON Missense_G308R exm1865786 16 69355040 [A/G] NM_013245 VPS4A EXON Missense_N313S exm1252649 16 69356478 [T/C] NM_013245 VPS4A EXON Missense_R363C exm1252652 16 69356562 [A/G] NM_013245 VPS4A EXON Missense_D391N exm1252661 16 69362947 [T/C] NM_032382,NM_022341 COG8,PDF EXON Silent,Missense_Y237C exm1252663 16 69362969 [T/G] NM_032382,NM_022341 COG8,PDF EXON Silent,Missense_S230R exm1252695 16 69364857 [A/G] NM_032382 COG8 EXON Missense_T575I exm1252698 16 69364899 [A/G] NM_032382 COG8 EXON Missense_T561M exm1252702 16 69364990 [A/G] NM_032382 COG8 EXON Missense_P531S exm1252703 16 69364992 [A/G] NM_032382 COG8 EXON Missense_P530L exm1252707 16 69366665 [A/G] NM_032382 COG8 EXON Missense_R512C exm1252727 16 69368758 [T/C] NM_032382 COG8 EXON Missense_G360E exm1252739 16 69368951 [T/C] NM_032382 COG8 EXON Missense_E296K exm2252699 16 69369240 [A/G] NM_032382 COG8 EXON Synonymous_N199N exm1252756 16 69370415 [A/G] NM_032382 COG8 EXON Missense_V193A exm1252757 16 69370446 [A/G] NM_032382 COG8 EXON Nonsense_R183X exm1252765 16 69370607 [A/G] NM_032382 COG8 EXON Missense_V129A exm1252775 16 69373436 [A/C] NM_032382,NM_016101,NM_001199434 COG8,NIP7,NIP7 EXON Missense_I7S,Silent,Silent exm1252777 16 69373451 [A/G] NM_032382,NM_016101,NM_001199434 COG8,NIP7,NIP7 EXON Missense_A2V,Silent,Silent exm1252791 16 69373976 [A/G] NM_016101,NM_001199434 NIP7,NIP7 EXON Missense_D42N,Missense_D42N exm1252794 16 69374200 [A/G] NM_016101,NM_001199434 NIP7,NIP7 EXON Missense_V83I,Missense_V83I exm1252800 16 69375487 [A/G] NM_016101,NM_001199434 NIP7,NIP7 EXON Missense_M159V,Missense_M112V exm1252804 16 69375526 [T/C] NM_016101,NM_001199434 NIP7,NIP7 EXON Missense_Y172H,Missense_Y125H exm1252810 16 69377350 [T/C] NM_144676 TMED6 EXON Missense_N228S exm1252812 16 69377360 [A/G] NM_144676 TMED6 EXON Missense_R225C exm1252819 16 69377470 [A/G] NM_144676 TMED6 EXON Missense_M188T exm1252828 16 69381713 [T/G] NM_144676 TMED6 EXON Missense_N156T exm1252831 16 69381824 [G/C] NM_144676 TMED6 EXON Missense_C119S exm1252833 16 69383457 [T/C] NM_144676 TMED6 EXON Missense_G104D exm2277101 16 69383518 [A/C] NM_144676 TMED6 EXON Missense_V84F exm1252847 16 69385499 [A/G] NM_144676 TMED6 EXON Missense_T53M exm1252848 16 69385519 [C/G] NM_144676 TMED6 EXON Missense_I46M exm1252850 16 69385535 [T/C] NM_144676 TMED6 EXON Missense_R41Q exm1252853 16 69385604 [A/G] NM_144676 TMED6 EXON Missense_S18F exm1252857 16 69385641 [A/G] NM_144676 TMED6 EXON Missense_F6L exm1252861 16 69390938 [T/C] NM_005652 TERF2 EXON Missense_E498K exm1252862 16 69391437 [T/C] NM_005652 TERF2 EXON Missense_N485S exm1252878 16 69401085 [T/G] NM_005652 TERF2 EXON Missense_P322Q exm1252907 16 69458591 [T/C] NM_030579 CYB5B EXON Missense_S2F exm1252919 16 69481071 [G/C] NM_030579 CYB5B EXON Missense_V65L exm1252930 16 69496384 [A/C] NM_030579 CYB5B EXON Missense_F138L exm2272395 16 69547741 [T/C] exm-rs1364063 16 69588572 [T/C] exm1865906 16 69602397 [T/G] NM_138713,NM_173214,NM_001113178,NM_173215,NM_006599,NM_138714 NFAT5,NFAT5,NFAT5,NFAT5,NFAT5,NFAT5 Silent,Silent,Silent,Silent,Silent,Silent exm1252941 16 69660329 [A/G] NM_138713,NM_173214,NM_001113178,NM_173215,NM_006599,NM_138714 NFAT5,NFAT5,NFAT5,NFAT5,NFAT5,NFAT5 EXON Missense_K51E,Silent,Missense_K51E,Silent,Missense_K33E,Silent exm1252947 16 69681065 [A/G] NM_138713,NM_173214,NM_001113178,NM_173215,NM_006599,NM_138714 NFAT5,NFAT5,NFAT5,NFAT5,NFAT5,NFAT5 EXON Missense_V130M,Missense_V36M,Missense_V130M,Missense_V36M,Missense_V112M,Missense_V36M exm1252950 16 69681107 [A/G] NM_138713,NM_173214,NM_001113178,NM_173215,NM_006599,NM_138714 NFAT5,NFAT5,NFAT5,NFAT5,NFAT5,NFAT5 EXON Missense_S144G,Missense_S50G,Missense_S144G,Missense_S50G,Missense_S126G,Missense_S50G exm1252985 16 69718796 [G/C] NM_138713,NM_173214,NM_001113178,NM_173215,NM_006599,NM_138714 NFAT5,NFAT5,NFAT5,NFAT5,NFAT5,NFAT5 EXON Missense_A566G,Missense_A472G,Missense_A565G,Missense_A472G,Missense_A548G,Missense_A472G exm1865937 16 69724845 [A/G] NM_138713,NM_173214,NM_001113178,NM_173215,NM_006599,NM_138714 NFAT5,NFAT5,NFAT5,NFAT5,NFAT5,NFAT5 EXON Missense_M593V,Missense_M499V,Missense_M592V,Missense_M499V,Missense_M575V,Missense_M499V exm1252986 16 69724887 [T/C] NM_138713,NM_173214,NM_001113178,NM_173215,NM_006599,NM_138714 NFAT5,NFAT5,NFAT5,NFAT5,NFAT5,NFAT5 EXON Missense_P607S,Missense_P513S,Missense_P606S,Missense_P513S,Missense_P589S,Missense_P513S exm1252994 16 69725697 [T/G] NM_138713,NM_173214,NM_001113178,NM_173215,NM_006599,NM_138714 NFAT5,NFAT5,NFAT5,NFAT5,NFAT5,NFAT5 EXON Missense_S657A,Missense_S563A,Missense_S656A,Missense_S563A,Missense_S639A,Missense_S563A exm1253006 16 69726060 [A/G] NM_138713,NM_173214,NM_001113178,NM_173215,NM_006599,NM_138714 NFAT5,NFAT5,NFAT5,NFAT5,NFAT5,NFAT5 EXON Missense_N778D,Missense_N684D,Missense_N777D,Missense_N684D,Missense_N760D,Missense_N684D exm1253047 16 69727480 [A/G] NM_138713,NM_173214,NM_001113178,NM_173215,NM_006599,NM_138714 NFAT5,NFAT5,NFAT5,NFAT5,NFAT5,NFAT5 EXON Missense_Q1251R,Missense_Q1157R,Missense_Q1250R,Missense_Q1157R,Missense_Q1233R,Missense_Q1157R exm1253056 16 69727645 [A/G] NM_138713,NM_173214,NM_001113178,NM_173215,NM_006599,NM_138714 NFAT5,NFAT5,NFAT5,NFAT5,NFAT5,NFAT5 EXON Missense_N1306S,Missense_N1212S,Missense_N1305S,Missense_N1212S,Missense_N1288S,Missense_N1212S exm2225197 16 69727734 [A/G] NM_138713,NM_173214,NM_001113178,NM_173215,NM_006599,NM_138714 NFAT5,NFAT5,NFAT5,NFAT5,NFAT5,NFAT5 EXON Missense_M1336V,Missense_M1242V,Missense_M1335V,Missense_M1242V,Missense_M1318V,Missense_M1242V exm1253064 16 69728064 [A/G] NM_138713,NM_173214,NM_001113178,NM_173215,NM_006599,NM_138714 NFAT5,NFAT5,NFAT5,NFAT5,NFAT5,NFAT5 EXON Missense_G1446S,Missense_G1352S,Missense_G1445S,Missense_G1352S,Missense_G1428S,Missense_G1352S exm2274853 16 69729182 [T/G] NM_138713,NM_173214,NM_001113178,NM_173215,NM_006599,NM_138714 NFAT5,NFAT5,NFAT5,NFAT5,NFAT5,NFAT5 EXON Missense_A1520S,Missense_A1426S,Missense_A1519S,Missense_A1426S,Missense_A1502S,Missense_A1426S exm1253075 16 69744897 [C/G] NM_001025433,NM_001025434,NM_000903 NQO1,NQO1,NQO1 EXON Missense_Q235H,Missense_Q231H,Missense_Q269H exm2225199 16 69744980 [G/C] NM_001025433,NM_001025434,NM_000903 NQO1,NQO1,NQO1 EXON Missense_E208Q,Missense_E204Q,Missense_E242Q exm1253079 16 69745126 [A/G] NM_001025433,NM_001025434,NM_000903 NQO1,NQO1,NQO1 EXON Missense_I159T,Missense_I155T,Missense_I193T exm1253081 16 69745145 [A/G] NM_001025433,NM_001025434,NM_000903 NQO1,NQO1,NQO1 EXON Missense_P153S,Missense_P149S,Missense_P187S exm1253083 16 69745172 [A/G] NM_001025433,NM_001025434,NM_000903 NQO1,NQO1,NQO1 EXON Missense_H144Y,Missense_H140Y,Missense_H178Y exm1865970 16 69748868 [A/C] NM_001025433,NM_001025434,NM_000903 NQO1,NQO1,NQO1 EXON Missense_R139L,Silent,Missense_R139L exm1253088 16 69748869 [A/G] NM_001025433,NM_001025434,NM_000903 NQO1,NQO1,NQO1 EXON Missense_R139W,Silent,Missense_R139W exm1253094 16 69748928 [C/G] NM_001025433,NM_001025434,NM_000903 NQO1,NQO1,NQO1 EXON Missense_R119P,Silent,Missense_R119P exm1253095 16 69748929 [A/G] NM_001025433,NM_001025434,NM_000903 NQO1,NQO1,NQO1 EXON Nonsense_R119X,Silent,Nonsense_R119X exm1253098 16 69752058 [T/G] NM_001025433,NM_001025434,NM_000903 NQO1,NQO1,NQO1 EXON Missense_K91Q,Missense_K91Q,Missense_K91Q exm1253103 16 69752339 [T/C] NM_001025433,NM_001025434,NM_000903 NQO1,NQO1,NQO1 EXON Missense_E36K,Missense_E36K,Missense_E36K exm1253118 16 69760341 [A/G] NM_001025433,NM_001025434,NM_000903 NQO1,NQO1,NQO1 EXON Missense_M1T,Missense_M1T,Missense_M1T exm1253136 16 69776426 [A/G] NM_014062,NR_074074 NOB1,NOB1 EXON Nonsense_R350X,Silent exm1253141 16 69776503 [T/A] NM_014062,NR_074074 NOB1,NOB1 EXON Missense_Y324F,Silent exm1253151 16 69778883 [T/A] NM_014062,NR_074074 NOB1,NOB1 EXON Missense_C288S,Silent exm1253154 16 69778915 [A/G] NM_014062,NR_074074 NOB1,NOB1 EXON Missense_T277M,Silent exm1253155 16 69778916 [T/C] NM_014062,NR_074074 NOB1,NOB1 EXON Missense_T277A,Silent exm1253156 16 69782153 [T/C] NM_014062,NR_074074 NOB1,NOB1 EXON Missense_R269H,Silent exm1253157 16 69782154 [A/G] NM_014062,NR_074074 NOB1,NOB1 EXON Missense_R269C,Silent exm1866002 16 69782824 [A/C] NM_014062,NR_074074 NOB1,NOB1 EXON Missense_M241I,Silent exm1253165 16 69782855 [T/C] NM_014062,NR_074074 NOB1,NOB1 EXON Missense_R231Q,Silent exm1253175 16 69783021 [A/T] NM_014062,NR_074074 NOB1,NOB1 EXON Missense_I176F,Silent exm1253189 16 69786258 [C/G] NM_014062,NR_074074 NOB1,NOB1 EXON Missense_K71N,Silent exm1253205 16 69820935 [T/C] NM_001270454,NM_007014,NM_001270455 WWP2,WWP2,WWP2 EXON Missense_R8W,Missense_R8W,Missense_R8W exm2267904 16 69832105 [A/G] NM_001270454,NM_007014,NM_001270455 WWP2,WWP2,WWP2 Silent,Silent,Silent exm1253210 16 69832648 [T/C] NM_001270454,NM_007014,NM_001270455 WWP2,WWP2,WWP2 EXON Missense_A45V,Missense_A45V,Missense_A45V exm1253212 16 69832662 [T/C] NM_001270454,NM_007014,NM_001270455 WWP2,WWP2,WWP2 EXON Missense_P50S,Missense_P50S,Missense_P50S exm1253231 16 69875962 [C/G] NM_001270454,NM_007014,NM_001270455,NM_001270453 WWP2,WWP2,WWP2,WWP2 EXON Missense_A172P,Missense_A172P,Missense_A172P,Missense_A56P exm1253232 16 69875981 [A/G] NM_001270454,NM_007014,NM_001270455,NM_001270453 WWP2,WWP2,WWP2,WWP2 EXON Missense_R178Q,Missense_R178Q,Missense_R178Q,Missense_R62Q exm1253235 16 69876022 [T/C] NM_001270454,NM_007014,NM_001270455,NM_001270453 WWP2,WWP2,WWP2,WWP2 EXON Missense_R192W,Missense_R192W,Missense_R192W,Missense_R76W exm1253238 16 69905721 [T/C] NM_001270454,NM_007014,NM_001270455,NM_001270453 WWP2,WWP2,WWP2,WWP2 EXON Missense_S197L,Missense_S197L,Missense_S197L,Missense_S81L exm2225203 16 69905756 [A/G] NM_001270454,NM_007014,NM_001270455,NM_001270453 WWP2,WWP2,WWP2,WWP2 EXON Missense_E209K,Missense_E209K,Missense_E209K,Missense_E93K exm1253246 16 69905774 [T/C] NM_001270454,NM_007014,NM_001270455,NM_001270453 WWP2,WWP2,WWP2,WWP2 EXON Missense_R215W,Missense_R215W,Missense_R215W,Missense_R99W exm1253247 16 69905775 [A/G] NM_001270454,NM_007014,NM_001270455,NM_001270453 WWP2,WWP2,WWP2,WWP2 EXON Missense_R215Q,Missense_R215Q,Missense_R215Q,Missense_R99Q exm1253249 16 69905808 [A/G] NM_001270454,NM_007014,NM_001270455,NM_001270453 WWP2,WWP2,WWP2,WWP2 EXON Missense_G226D,Missense_G226D,Missense_G226D,Missense_G110D exm1253264 16 69942687 [A/G] NM_001270454,NM_007014,NM_001270455,NM_001270453 WWP2,WWP2,WWP2,WWP2 EXON Missense_N313S,Missense_N313S,Missense_N313S,Missense_N197S exm1253276 16 69951785 [A/G] NM_001270454,NM_007014,NM_001270453 WWP2,WWP2,WWP2 EXON Missense_Q393R,Missense_Q393R,Missense_Q277R exm1253309 16 69965736 [A/G] NM_001270454,NM_007014,NM_001270453,NM_199424 WWP2,WWP2,WWP2,WWP2 EXON Missense_R542H,Missense_R542H,Missense_R426H,Missense_R103H exm1253353 16 69971543 [C/G] NM_001270454,NM_007014,NM_001270453,NM_199424 WWP2,WWP2,WWP2,WWP2 EXON Missense_Q777H,Missense_Q777H,Missense_Q661H,Missense_Q338H exm1866084 16 69973023 [A/G] NM_001270454,NM_007014,NM_001270453,NM_199424 WWP2,WWP2,WWP2,WWP2 EXON Missense_I813V,Missense_I813V,Missense_I697V,Missense_I374V exm1253431 16 70154486 [C/G] NM_017990 PDPR EXON Missense_A31P exm1253474 16 70166140 [A/G] NM_017990 PDPR EXON Missense_I312V exm1253530 16 70187372 [T/C] NM_017990 PDPR EXON Missense_R711C exm1253531 16 70187381 [T/C] NM_017990 PDPR EXON Nonsense_R714X exm1253544 16 70190462 [A/G] NM_017990 PDPR EXON Missense_D774N exm1253547 16 70190514 [A/G] NM_017990 PDPR EXON Missense_R791Q exm1253550 16 70190543 [A/G] NM_017990 PDPR EXON Missense_S801G exm1253552 16 70190570 [T/C] NM_017990 PDPR EXON Missense_R810C exm1253558 16 70190597 [A/C] NM_017990 PDPR EXON Missense_N819H exm1253564 16 70190676 [T/C] NM_017990 PDPR EXON Missense_A845V exm2276455 16 70190684 [A/C] NM_017990 PDPR EXON Missense_R848S exm1253570 16 70190742 [A/G] NM_017990 PDPR EXON Missense_R867Q exm2273536 16 70191333 [T/C] NM_017990 PDPR EXON Silent exm1253606 16 70284990 [A/G] NM_058219 EXOSC6 EXON Missense_P272S exm1253631 16 70285799 [A/G] NM_058219 EXOSC6 EXON Missense_P2L exm1253636 16 70286631 [T/A] NM_001605 AARS EXON Missense_K967M exm1253643 16 70286740 [T/C] NM_001605 AARS EXON Missense_G931S exm1253657 16 70287883 [T/C] NM_001605 AARS EXON Missense_K820R exm1253664 16 70289642 [T/C] NM_001605 AARS EXON Missense_E759K exm1253668 16 70289695 [A/G] NM_001605 AARS EXON Missense_T741M exm1253672 16 70289725 [A/G] NM_001605 AARS EXON Missense_S731L exm1253673 16 70289726 [A/C] NM_001605 AARS EXON Missense_S731A exm1253675 16 70289732 [A/G] NM_001605 AARS EXON Missense_R729W exm1253676 16 70291947 [T/G] NM_001605 AARS EXON Missense_F722L exm1253696 16 70294995 [A/G] NM_001605 AARS EXON Synonymous_I579I exm1253698 16 70295047 [A/G] NM_001605 AARS EXON Missense_T562I exm1253703 16 70296256 [A/C] NM_001605 AARS EXON Missense_S555I exm1253727 16 70299441 [T/C] NM_001605 AARS EXON Synonymous_Q449Q exm1253730 16 70299535 [T/C] NM_001605 AARS EXON Missense_Y418C exm1253731 16 70301563 [A/G] NM_001605 AARS EXON Synonymous_P407P exm1253748 16 70303525 [A/G] NM_001605 AARS EXON Missense_R320C exm2267905 16 70303580 [A/G] NM_001605 AARS EXON Synonymous_H301H exm1253756 16 70303659 [T/C] NM_001605 AARS EXON Missense_G275D exm1253762 16 70304215 [A/G] NM_001605 AARS EXON Missense_P234S exm1253770 16 70305858 [A/C] NM_001605 AARS EXON Missense_I166S exm1253774 16 70310438 [T/C] NM_001605 AARS EXON Missense_A144T exm1253784 16 70316603 [T/C] NM_001605 AARS EXON Missense_E22K exm1253797 16 70348839 [C/G] NM_001257174,NM_001257172,NM_001257173,NM_007242,NM_001014449,NM_001014451,NM_001257175 DDX19B,DDX19B,DDX19B,DDX19B,DDX19B,DDX19B,DDX19B EXON Silent,Missense_K52N,Silent,Missense_K47N,Silent,Missense_K47N,Silent exm2252703 16 70351429 [G/C] NM_001257174,NM_001257172,NM_001257173,NM_007242,NM_001014449,NM_001014451,NM_001257175,NR_039997 DDX19B,DDX19B,DDX19B,DDX19B,DDX19B,DDX19B,DDX19B,LOC100506083 EXON Silent,Silent,Silent,Synonymous_A109A,Silent,Silent,Silent,Silent exm1253807 16 70351429 [G/C] NM_001257174,NM_001257172,NM_001257173,NM_007242,NM_001014449,NM_001014451,NM_001257175,NR_039997 DDX19B,DDX19B,DDX19B,DDX19B,DDX19B,DDX19B,DDX19B,LOC100506083 EXON Silent,Silent,Silent,Synonymous_A109A,Silent,Silent,Silent,Silent exm1253809 16 70358495 [A/G] NM_001257174,NM_001257172,NM_001257173,NM_007242,NM_001014449,NM_001014451,NM_001257175,NR_039997 DDX19B,DDX19B,DDX19B,DDX19B,DDX19B,DDX19B,DDX19B,LOC100506083 EXON Missense_N24D,Missense_N107D,Missense_N24D,Missense_N133D,Missense_N24D,Missense_N102D,Silent,Silent exm1253811 16 70358574 [A/C] NM_001257174,NM_001257172,NM_001257173,NM_007242,NM_001014449,NM_001014451,NM_001257175,NR_039997 DDX19B,DDX19B,DDX19B,DDX19B,DDX19B,DDX19B,DDX19B,LOC100506083 EXON Missense_A50E,Missense_A133E,Missense_A50E,Missense_A159E,Missense_A50E,Missense_A128E,Missense_A8E,Silent exm2225219 16 70380941 [T/C] NM_018332 DDX19A EXON Missense_A16V exm1253870 16 70398987 [A/G] NM_018332 DDX19A EXON Missense_K186R exm1866385 16 70399019 [A/G] NM_018332 DDX19A EXON Missense_V197I exm1253874 16 70400001 [T/G] NM_018332 DDX19A EXON Missense_Q206H exm1253911 16 70417109 [T/C] NM_006927 ST3GAL2 EXON Missense_R248Q exm1253960 16 70497136 [A/C] NM_145059 FUK EXON Missense_T15P exm1866423 16 70497534 [A/G] NM_145059 FUK EXON Missense_V31M exm1253966 16 70497630 [A/G] NM_145059 FUK EXON Missense_A63T exm1866435 16 70500084 [T/C] NM_145059 FUK EXON Missense_P112L exm1253978 16 70500098 [A/G] NM_145059 FUK EXON Missense_E117K exm1253985 16 70500809 [A/G] NM_145059 FUK EXON Missense_V146M exm1253995 16 70502771 [A/T] NM_145059 FUK EXON Missense_F228Y exm1254005 16 70503095 [A/G] NM_145059 FUK EXON Missense_N275S exm1866455 16 70503178 [T/G] NM_145059 FUK EXON Missense_A303S exm1254029 16 70504929 [G/C] NM_145059 FUK EXON Missense_P375R exm1254032 16 70505089 [G/C] NM_145059 FUK EXON Missense_P392R exm1254035 16 70505167 [A/G] NM_145059 FUK EXON Missense_R418H exm1254042 16 70506508 [A/G] NM_145059 FUK EXON Missense_R469Q exm1254043 16 70506885 [C/G] NM_145059 FUK Silent exm1254051 16 70507040 [A/G] NM_145059 FUK EXON Missense_A521T exm1254068 16 70508128 [A/G] NM_145059 FUK EXON Missense_R625Q exm1254073 16 70508197 [T/C] NM_145059 FUK EXON Missense_A648V exm1254074 16 70508202 [A/G] NM_145059 FUK EXON Missense_V650M exm1254075 16 70508209 [T/C] NM_145059 FUK EXON Missense_A652V exm1254082 16 70508544 [T/C] NM_145059 FUK EXON Missense_P701L exm1254090 16 70508771 [A/G] NM_145059 FUK EXON Missense_R745H exm1254096 16 70508851 [A/G] NM_145059 FUK EXON Missense_T772A exm1254111 16 70509601 [A/G] NM_145059 FUK EXON Missense_A858T exm1254113 16 70509610 [A/G] NM_145059 FUK EXON Missense_V861M exm1254124 16 70512234 [T/C] NM_145059 FUK EXON Missense_R901W exm1254125 16 70512235 [A/G] NM_145059 FUK EXON Missense_R901Q exm1254130 16 70512297 [A/C] NM_145059 FUK EXON Missense_K922Q exm1254133 16 70512339 [T/C] NM_145059 FUK EXON Missense_R936C exm1254135 16 70512348 [T/C] NM_145059 FUK EXON Missense_R939W exm1254136 16 70512349 [A/G] NM_145059 FUK EXON Missense_R939Q exm1254139 16 70512510 [A/C] NM_145059 FUK EXON Missense_S962R exm1254144 16 70513133 [A/C] NM_145059 FUK EXON Missense_K994Q exm1254149 16 70513196 [A/C] NM_145059 FUK EXON Missense_H1015N exm1254158 16 70513554 [A/G] NM_145059 FUK EXON Missense_E1076K exm1254175 16 70515032 [T/C] NM_001195139,NM_015386 COG4,COG4 EXON Missense_D730N,Missense_D751N exm1254177 16 70515272 [T/C] NM_001195139,NM_015386 COG4,COG4 EXON Missense_N721S,Missense_N742S exm2225224 16 70515347 [A/G] NM_001195139,NM_015386 COG4,COG4 EXON Missense_A696V,Missense_A717V exm1254187 16 70515743 [T/C] NM_001195139,NM_015386 COG4,COG4 EXON Missense_D656G,Missense_D677G exm2225225 16 70515744 [T/C] NM_001195139,NM_015386 COG4,COG4 EXON Missense_D656N,Missense_D677N exm1254193 16 70516068 [T/C] NM_001195139,NM_015386 COG4,COG4 EXON Missense_N623S,Missense_N644S exm2225226 16 70516072 [A/G] NM_001195139,NM_015386 COG4,COG4 EXON Missense_F622L,Missense_F643L exm1254198 16 70516658 [A/G] NM_001195139,NM_015386 COG4,COG4 EXON Missense_F611L,Missense_F632L exm1254203 16 70517824 [T/G] NM_001195139,NM_015386 COG4,COG4 EXON Missense_Q566K,Missense_Q587K exm1254209 16 70524256 [A/G] NM_001195139,NM_015386 COG4,COG4 EXON Silent,Missense_S563P exm1254219 16 70531202 [T/C] NM_001195139,NM_015386 COG4,COG4 EXON Missense_R468Q,Missense_R468Q exm1866532 16 70534933 [A/G] NM_001195139,NM_015386 COG4,COG4 EXON Missense_R375C,Missense_R375C exm1254249 16 70543283 [A/G] NM_001195139,NM_015386 COG4,COG4 EXON Missense_R285C,Missense_R285C exm1254260 16 70546288 [A/G] NM_001195139,NM_015386 COG4,COG4 EXON Missense_R198C,Missense_R198C exm1254263 16 70548243 [T/C] NM_001195139,NM_015386 COG4,COG4 EXON Missense_K180R,Missense_K180R exm1254268 16 70548297 [A/G] NM_001195139,NM_015386 COG4,COG4 EXON Missense_T162I,Missense_T162I exm1254285 16 70557406 [A/G] NM_001195139,NM_015386 COG4,COG4 EXON Missense_L14P,Missense_L14P exm2277102 16 70560603 [A/G] NM_012426 SF3B3 EXON Missense_S15N exm1254298 16 70563087 [G/C] NM_012426 SF3B3 EXON Missense_R128G exm1254314 16 70572328 [A/G] NM_012426 SF3B3 EXON Missense_I310V exm1254339 16 70590898 [T/C] NM_012426 SF3B3 EXON Missense_S659L exm1254365 16 70601320 [T/G] NM_012426 SF3B3 EXON Missense_V945L exm1254371 16 70602219 [A/G] NM_012426 SF3B3 EXON Missense_I996V exm1254378 16 70602955 [T/C] NM_012426 SF3B3 EXON Missense_P1059S exm2272396 16 70683178 [T/G] NM_001172771,NM_152456,NM_001172772 IL34,IL34,IL34 Silent,Silent,Silent exm1254402 16 70688459 [C/G] NM_001172771,NM_152456,NM_001172772 IL34,IL34,IL34 EXON Missense_G16A,Missense_G16A,Missense_G16A exm1254407 16 70690511 [T/C] NM_001172771,NM_152456,NM_001172772 IL34,IL34,IL34 EXON Missense_Y57H,Missense_Y57H,Missense_Y57H exm1254425 16 70690989 [G/C] NM_001172771,NM_152456,NM_001172772 IL34,IL34,IL34 EXON Missense_E122Q,Missense_E123Q,Missense_E123Q exm1254434 16 70693945 [C/G] NM_001172771,NM_152456,NM_001172772 IL34,IL34,IL34 EXON Missense_S194T,Missense_S195T,Missense_S195T exm1254442 16 70694000 [A/C] NM_001172771,NM_152456,NM_001172772 IL34,IL34,IL34 EXON Nonsense_Y212X,Nonsense_Y213X,Nonsense_Y213X exm1254448 16 70694056 [T/C] NM_001172771,NM_152456,NM_001172772 IL34,IL34,IL34 EXON Missense_P231L,Missense_P232L,Missense_P232L exm1254450 16 70694073 [A/G] NM_001172771,NM_152456,NM_001172772 IL34,IL34,IL34 EXON Missense_E237K,Missense_E238K,Missense_E238K exm1254451 16 70694076 [A/G] NM_001172771,NM_152456,NM_001172772 IL34,IL34,IL34 EXON Missense_G238S,Missense_G239S,Missense_G239S exm1254469 16 70697927 [G/C] NM_138383 MTSS1L EXON Missense_A633P exm1254476 16 70697978 [T/C] NM_138383 MTSS1L EXON Missense_V616I exm1254480 16 70698011 [T/G] NM_138383 MTSS1L EXON Missense_M605L exm1254481 16 70698017 [T/C] NM_138383 MTSS1L EXON Missense_G603S exm1254483 16 70698053 [T/C] NM_138383 MTSS1L EXON Missense_V591I exm1254494 16 70698242 [A/G] NM_138383 MTSS1L EXON Missense_R528C exm1254507 16 70698518 [T/C] NM_138383 MTSS1L EXON Missense_D485G exm1254536 16 70708295 [T/C] NM_138383 MTSS1L EXON Missense_V323I exm1254540 16 70708339 [T/C] NM_138383 MTSS1L EXON Missense_R308H exm1254543 16 70708381 [T/C] NM_138383 MTSS1L EXON Missense_G294E exm1254566 16 70712285 [T/C] NM_138383 MTSS1L EXON Missense_D165G exm1254567 16 70712302 [T/G] NM_138383 MTSS1L EXON Missense_D159E exm1254571 16 70713221 [T/G] NM_138383 MTSS1L EXON Missense_L155I exm1254604 16 70721871 [T/C] NM_018052 VAC14 EXON Missense_S770N exm1254606 16 70721883 [T/C] NM_018052 VAC14 EXON Missense_R766Q exm1254622 16 70729448 [T/C] NM_018052 VAC14 EXON Synonymous_T678T exm1254635 16 70732653 [A/G] NM_018052 VAC14 EXON Missense_R575W exm1254693 16 70816989 [T/C] NM_018052 VAC14 EXON Missense_S253N exm1866763 16 70816992 [T/G] NM_018052 VAC14 EXON Missense_S252Y exm1254713 16 70819670 [T/C] NM_018052 VAC14 EXON Missense_I120V exm1254716 16 70819743 [G/C] NM_018052 VAC14 EXON Missense_I95M exm1254718 16 70819763 [A/G] NM_018052 VAC14 EXON Missense_L89F exm1254735 16 70841632 [T/C] NM_001270974 HYDIN EXON Missense_K5073E exm1254736 16 70841656 [T/C] NM_001270974 HYDIN EXON Missense_A5065T exm1254737 16 70841658 [T/C] NM_001270974 HYDIN EXON Missense_R5064H exm1254740 16 70841703 [A/G] NM_001270974 HYDIN EXON Missense_M5049T exm1254741 16 70841743 [A/G] NM_001270974 HYDIN EXON Missense_Y5036H exm1254746 16 70841824 [T/C] NM_001270974 HYDIN EXON Missense_A5009T exm1254753 16 70843711 [T/C] NM_001270974 HYDIN EXON Missense_R4953Q exm1254754 16 70843712 [A/G] NM_001270974 HYDIN EXON Missense_R4953W exm1254761 16 70843909 [T/C] NM_001270974 HYDIN EXON Missense_G4887D exm1254815 16 70867880 [T/A] NM_001270974 HYDIN EXON Missense_D4530V exm1254853 16 70883694 [A/G] NM_001270974 HYDIN EXON Missense_H4270Y exm1254857 16 70883827 [A/C] NM_001270974 HYDIN EXON Missense_Q4225H exm1254862 16 70884501 [G/C] NM_001270974 HYDIN EXON Missense_L4167F exm1254871 16 70889092 [C/G] NM_001270974 HYDIN EXON Missense_E4128Q exm1254890 16 70893976 [T/C] NM_001270974 HYDIN EXON Missense_A4042T exm1254895 16 70894593 [A/G] NM_001270974 HYDIN EXON Missense_R3997W exm2225238 16 70894682 [A/G] NM_001270974 HYDIN EXON Missense_P3967L exm1254919 16 70897063 [A/G] NM_001270974 HYDIN EXON Missense_R3832C exm1254924 16 70900111 [T/C] NM_001270974 HYDIN EXON Missense_R3811H exm1866814 16 70900199 [T/C] NM_001270974 HYDIN EXON Missense_V3782I exm1254931 16 70900216 [A/G] NM_001270974 HYDIN EXON Missense_P3776L exm2225240 16 70900229 [T/C] NM_001270974 HYDIN EXON Missense_I3772V exm1254937 16 70902514 [T/C] NM_001270974 HYDIN EXON Missense_V3757I exm1254948 16 70902610 [A/G] NM_001270974 HYDIN EXON Missense_R3725W exm1254955 16 70905984 [A/G] NM_001270974 HYDIN EXON Missense_R3683W exm1254965 16 70908728 [T/C] NM_001270974 HYDIN EXON Missense_H3551R exm1254974 16 70913316 [A/G] NM_001270974 HYDIN EXON Missense_R3481W exm1254997 16 70916706 [T/C] NM_001270974 HYDIN EXON Missense_G3358R exm1255002 16 70916787 [T/C] NM_001270974 HYDIN EXON Missense_E3331K exm1255022 16 70925723 [A/G] NM_001270974 HYDIN EXON Missense_A3161V exm1255026 16 70926272 [T/G] NM_001270974 HYDIN EXON Missense_R3137S exm1255029 16 70926299 [T/C] NM_001270974 HYDIN EXON Missense_V3128M exm1255052 16 70934974 [T/C] NM_001270974 HYDIN EXON Missense_E2994G exm1255059 16 70937561 [T/C] NM_001270974 HYDIN EXON Missense_R2939K exm1255060 16 70937568 [T/C] NM_001270974 HYDIN EXON Missense_E2937K exm1255061 16 70937582 [A/G] NM_001270974 HYDIN EXON Missense_P2932L exm1255075 16 70941377 [T/C] NM_001270974 HYDIN EXON Missense_R2805Q exm1255076 16 70941378 [A/G] NM_001270974 HYDIN EXON Missense_R2805W exm1255080 16 70942584 [T/C] NM_001270974 HYDIN EXON Missense_G2729R exm1255087 16 70942697 [A/C] NM_001270974 HYDIN EXON Missense_V2691G exm1255088 16 70942706 [T/A] NM_001270974 HYDIN EXON Missense_I2688K exm1255103 16 70952281 [T/C] NM_001270974 HYDIN EXON Missense_A2613T exm1255129 16 70954682 [A/G] NM_001270974 HYDIN EXON Missense_R2533W exm1255150 16 70954909 [A/G] NM_001270974 HYDIN EXON Missense_F2457S exm1255151 16 70954915 [T/G] NM_001270974 HYDIN EXON Missense_P2455Q exm1255155 16 70954956 [A/C] NM_001270974 HYDIN EXON Missense_S2441R exm1255159 16 70955048 [T/C] NM_001270974 HYDIN EXON Missense_M2411V exm2252705 16 70955079 [A/G] NM_001270974 HYDIN EXON Synonymous_I2400I exm1255175 16 70972595 [T/C] NM_001270974 HYDIN EXON Missense_E2306G exm1255184 16 70975575 [T/C] NM_001270974 HYDIN EXON Missense_M2273V exm1255189 16 70975662 [A/C] NM_001270974 HYDIN EXON Missense_A2244S exm1255206 16 70977827 [C/G] NM_001270974 HYDIN EXON Missense_G2186A exm1255207 16 70977833 [A/G] NM_001270974 HYDIN EXON Missense_P2184L exm1255219 16 70986425 [T/C] NM_001270974 HYDIN EXON Missense_K2144E exm1255221 16 70986457 [A/G] NM_001270974 HYDIN EXON Missense_M2133T exm1255227 16 70986505 [A/C] NM_001270974 HYDIN EXON Missense_G2117V exm1255229 16 70986520 [A/C] NM_001270974 HYDIN EXON Missense_G2112V exm1255247 16 70989406 [A/G] NM_001270974 HYDIN EXON Missense_A2063V exm1255254 16 70993553 [T/A] NM_001270974 HYDIN EXON Missense_S2047T exm1255260 16 70993639 [T/C] NM_001270974 HYDIN EXON Missense_R2018H exm1255270 16 70995975 [T/C] NM_001270974 HYDIN EXON Missense_R1952Q exm1255273 16 70996023 [A/G] NM_001270974 HYDIN EXON Missense_S1936L exm1255277 16 70998744 [T/C] NM_001270974 HYDIN EXON Missense_R1892H exm1255278 16 70998783 [T/A] NM_001270974 HYDIN EXON Missense_K1879M exm1255293 16 71007323 [T/C] NM_001270974 HYDIN EXON Missense_E1768K exm1255302 16 71007809 [T/C] NM_001270974 HYDIN EXON Missense_V1718M exm1255305 16 71007847 [T/C] NM_001270974 HYDIN EXON Missense_K1705R exm1255323 16 71009054 [T/C] NM_001270974 HYDIN EXON Missense_R1586H exm1255332 16 71012867 [A/C] NM_001270974 HYDIN EXON Missense_D1530Y exm1255338 16 71015329 [T/G] NM_001270974 HYDIN EXON Missense_P1492H exm1255345 16 71019225 [A/G] NM_001270974 HYDIN EXON Synonymous_L1399L exm1255364 16 71026112 [A/G] NM_001270974 HYDIN EXON Missense_F1216L exm1255367 16 71052117 [A/G] NM_001270974 HYDIN EXON Missense_R1187C exm1255370 16 71052302 [T/A] NM_001270974 HYDIN EXON Missense_K1125M exm1255371 16 71052311 [A/G] NM_001270974 HYDIN EXON Missense_L1122P exm1255375 16 71054116 [T/C] NM_001270974 HYDIN EXON Missense_I1097M exm1255387 16 71061513 [T/C] NM_001270974,NM_017558 HYDIN,HYDIN EXON Missense_T1012A,Missense_T1012A exm1255404 16 71065718 [A/T] NM_001270974,NM_017558,NM_001198542,NM_001198543 HYDIN,HYDIN,HYDIN,HYDIN EXON Missense_T878S,Missense_T878S,Missense_T905S,Missense_T895S exm1255408 16 71065748 [T/C] NM_001270974,NM_017558,NM_001198542,NM_001198543 HYDIN,HYDIN,HYDIN,HYDIN EXON Missense_A868T,Missense_A868T,Missense_A895T,Missense_A885T exm1255426 16 71098642 [T/C] NM_001270974,NM_017558,NM_001198542,NM_001198543 HYDIN,HYDIN,HYDIN,HYDIN EXON Missense_D726G,Missense_D726G,Missense_D753G,Missense_D743G exm2225255 16 71101217 [A/G] NM_001270974,NM_017558,NM_001198542,NM_001198543 HYDIN,HYDIN,HYDIN,HYDIN EXON Missense_V684A,Missense_V684A,Missense_V711A,Missense_V701A exm1255454 16 71103289 [A/G] NM_001270974,NM_017558,NM_001198542,NM_001198543 HYDIN,HYDIN,HYDIN,HYDIN EXON Missense_H619Y,Missense_H619Y,Missense_H646Y,Missense_H636Y exm1255456 16 71103315 [T/C] NM_001270974,NM_017558,NM_001198542,NM_001198543 HYDIN,HYDIN,HYDIN,HYDIN EXON Missense_H610R,Missense_H610R,Missense_H637R,Missense_H627R exm1255459 16 71103393 [T/G] NM_001270974,NM_017558,NM_001198542,NM_001198543 HYDIN,HYDIN,HYDIN,HYDIN EXON Missense_T584N,Missense_T584N,Missense_T611N,Missense_T601N exm1255462 16 71113844 [A/G] NM_001270974,NM_017558,NM_001198542,NM_001198543 HYDIN,HYDIN,HYDIN,HYDIN EXON Missense_I561T,Missense_I561T,Missense_I588T,Missense_I578T exm2225257 16 71149676 [C/G] NM_001270974,NM_017558,NM_001198542,NM_001198543 HYDIN,HYDIN,HYDIN,HYDIN EXON Nonsense_S417X,Nonsense_S417X,Nonsense_S444X,Nonsense_S434X exm1255482 16 71163613 [A/G] NM_001270974,NM_017558,NM_001198542,NM_001198543 HYDIN,HYDIN,HYDIN,HYDIN EXON Missense_A386V,Missense_A386V,Missense_A413V,Missense_A403V exm1255487 16 71171142 [T/C] NM_001270974,NM_017558,NM_001198542,NM_001198543 HYDIN,HYDIN,HYDIN,HYDIN EXON Missense_I319V,Missense_I319V,Missense_I346V,Missense_I336V exm1255488 16 71171147 [T/C] NM_001270974,NM_017558,NM_001198542,NM_001198543 HYDIN,HYDIN,HYDIN,HYDIN EXON Missense_R317Q,Missense_R317Q,Missense_R344Q,Missense_R334Q exm1255495 16 71196543 [A/G] NM_001270974,NM_017558,NM_001198542,NM_001198543 HYDIN,HYDIN,HYDIN,HYDIN EXON Missense_P203S,Missense_P203S,Missense_P230S,Missense_P220S exm2267952 16 71206836 [A/G] NM_001270974,NM_017558,NM_001198542,NM_001198543 HYDIN,HYDIN,HYDIN,HYDIN Silent,Silent,Silent,Silent exm1255497 16 71209538 [T/C] NM_001270974,NM_017558,NM_001198542,NM_001198543 HYDIN,HYDIN,HYDIN,HYDIN EXON Missense_R163Q,Missense_R163Q,Missense_R190Q,Missense_R180Q exm1255508 16 71218789 [T/C] NM_001270974,NM_017558,NM_001198542,NM_001198543 HYDIN,HYDIN,HYDIN,HYDIN EXON Missense_M80I,Missense_M80I,Missense_M107I,Missense_M97I exm1255512 16 71220668 [T/C] NM_001270974,NM_017558,NM_001198542,NM_001198543 HYDIN,HYDIN,HYDIN,HYDIN EXON Missense_R44Q,Missense_R44Q,Missense_R71Q,Missense_R61Q exm1255515 16 71220702 [T/C] NM_001270974,NM_017558,NM_001198542,NM_001198543 HYDIN,HYDIN,HYDIN,HYDIN EXON Missense_S33G,Missense_S33G,Missense_S60G,Missense_S50G exm1255517 16 71220755 [A/G] NM_001270974,NM_017558,NM_001198542,NM_001198543 HYDIN,HYDIN,HYDIN,HYDIN EXON Missense_M15T,Missense_M15T,Missense_M42T,Missense_M32T exm1255518 16 71220762 [A/C] NM_001270974,NM_017558,NM_001198542,NM_001198543 HYDIN,HYDIN,HYDIN,HYDIN EXON Missense_V13F,Missense_V13F,Missense_V40F,Missense_V30F exm1255520 16 71220794 [T/G] NM_001270974,NM_017558,NM_001198542,NM_001198543 HYDIN,HYDIN,HYDIN,HYDIN EXON Missense_T2K,Missense_T2K,Missense_T29K,Missense_T19K exm1255523 16 71264561 [A/G] NM_001270974,NM_017558,NM_001198542,NM_001198543 HYDIN,HYDIN,HYDIN,HYDIN EXON Silent,Silent,Synonymous_G10G,Silent exm1255525 16 71317518 [T/C] NM_001099642,NM_018348 FTSJD1,FTSJD1 EXON Missense_Q769R,Missense_Q769R exm1255526 16 71317533 [T/C] NM_001099642,NM_018348 FTSJD1,FTSJD1 EXON Missense_N764S,Missense_N764S exm1255528 16 71317567 [A/G] NM_001099642,NM_018348 FTSJD1,FTSJD1 EXON Missense_F753L,Missense_F753L exm1255531 16 71317645 [T/C] NM_001099642,NM_018348 FTSJD1,FTSJD1 EXON Missense_M727V,Missense_M727V exm1255536 16 71317774 [T/C] NM_001099642,NM_018348 FTSJD1,FTSJD1 EXON Missense_A684T,Missense_A684T exm1255541 16 71317921 [A/G] NM_001099642,NM_018348 FTSJD1,FTSJD1 EXON Missense_R635W,Missense_R635W exm1255543 16 71318001 [T/G] NM_001099642,NM_018348 FTSJD1,FTSJD1 EXON Missense_T608K,Missense_T608K exm1255550 16 71318152 [T/C] NM_001099642,NM_018348 FTSJD1,FTSJD1 EXON Missense_E558K,Missense_E558K exm1255552 16 71318202 [T/C] NM_001099642,NM_018348 FTSJD1,FTSJD1 EXON Missense_Q541R,Missense_Q541R exm1255556 16 71318257 [T/C] NM_001099642,NM_018348 FTSJD1,FTSJD1 EXON Missense_I523V,Missense_I523V exm1255569 16 71318508 [T/C] NM_001099642,NM_018348 FTSJD1,FTSJD1 EXON Missense_K439R,Missense_K439R exm1255571 16 71318577 [T/C] NM_001099642,NM_018348 FTSJD1,FTSJD1 EXON Missense_N416S,Missense_N416S exm1866975 16 71318833 [A/G] NM_001099642,NM_018348 FTSJD1,FTSJD1 EXON Missense_S331P,Missense_S331P exm1255581 16 71318844 [T/G] NM_001099642,NM_018348 FTSJD1,FTSJD1 EXON Missense_H327P,Missense_H327P exm1255596 16 71319312 [C/G] NM_001099642,NM_018348 FTSJD1,FTSJD1 EXON Missense_A171G,Missense_A171G exm1255597 16 71319339 [T/C] NM_001099642,NM_018348 FTSJD1,FTSJD1 EXON Missense_R162Q,Missense_R162Q exm1255600 16 71319373 [T/A] NM_001099642,NM_018348 FTSJD1,FTSJD1 EXON Missense_I151L,Missense_I151L exm1255608 16 71319646 [A/G] NM_001099642,NM_018348 FTSJD1,FTSJD1 EXON Missense_L60F,Missense_L60F exm1255610 16 71319659 [A/C] NM_001099642,NM_018348 FTSJD1,FTSJD1 EXON Missense_C55W,Missense_C55W exm1255613 16 71319715 [T/C] NM_001099642,NM_018348 FTSJD1,FTSJD1 EXON Missense_G37S,Missense_G37S exm2272397 16 71361886 [T/G] exm1255621 16 71406122 [T/G] NM_007088,NM_001740,NR_027910 CALB2,CALB2,CALB2 EXON Missense_G54V,Missense_G54V,Silent exm1255632 16 71411636 [A/G] NM_007088,NM_001740,NR_027910 CALB2,CALB2,CALB2 EXON Missense_A110T,Missense_A110T,Silent exm1255643 16 71417307 [T/C] NM_007088,NM_001740,NR_027910 CALB2,CALB2,CALB2 EXON Missense_P146L,Missense_P146L,Silent exm1255654 16 71418717 [T/C] NM_007088,NM_001740,NR_027910 CALB2,CALB2,CALB2 EXON Silent,Missense_A202V,Silent exm1255670 16 71423754 [A/G] NM_007088,NM_001740,NR_027910 CALB2,CALB2,CALB2 EXON Silent,Missense_E268K,Silent exm1255678 16 71482072 [G/C] NM_145911 ZNF23 EXON Missense_S619T exm1255680 16 71482199 [A/G] NM_145911 ZNF23 EXON Missense_R577W exm1255681 16 71482227 [T/G] NM_145911 ZNF23 EXON Missense_K567N exm1255684 16 71482288 [T/G] NM_145911 ZNF23 EXON Missense_Y547S exm1867035 16 71482652 [T/C] NM_145911 ZNF23 EXON Missense_G426R exm1255700 16 71482665 [C/G] NM_145911 ZNF23 EXON Missense_E421D exm1255708 16 71482915 [T/C] NM_145911 ZNF23 EXON Missense_C338Y exm1255719 16 71483104 [A/G] NM_145911 ZNF23 EXON Missense_T275M exm1255721 16 71483121 [G/C] NM_145911 ZNF23 EXON Missense_R269S exm1255734 16 71483357 [T/G] NM_145911 ZNF23 EXON Missense_T191P exm1255738 16 71483497 [C/G] NM_145911 ZNF23 EXON Missense_G144A exm1255740 16 71483562 [T/A] NM_145911 ZNF23 EXON Missense_F122L exm1255751 16 71487206 [T/C] NM_145911 ZNF23 EXON Missense_S28G exm1867053 16 71509114 [A/G] NM_006961 ZNF19 EXON Missense_R446C exm1255757 16 71509120 [T/C] NM_006961 ZNF19 EXON Missense_I444V exm1255759 16 71509207 [A/C] NM_006961 ZNF19 EXON Missense_C415G exm2225262 16 71509430 [T/A] NM_006961 ZNF19 EXON Missense_F340L exm1255772 16 71509675 [T/C] NM_006961 ZNF19 EXON Missense_E259K exm1255778 16 71509779 [T/C] NM_006961 ZNF19 EXON Missense_R224Q exm1255779 16 71509796 [G/C] NM_006961 ZNF19 EXON Missense_Q218H exm1255780 16 71509804 [A/G] NM_006961 ZNF19 EXON Missense_P216S exm1255786 16 71509950 [T/C] NM_006961 ZNF19 EXON Missense_G167E exm1867068 16 71509962 [T/C] NM_006961 ZNF19 EXON Missense_C163Y exm1255794 16 71512842 [A/C] NM_006961 ZNF19 EXON Missense_A34S exm1255809 16 71570705 [A/G] NM_005769,NM_001166395 CHST4,CHST4 EXON Missense_R42H,Missense_R42H exm1255811 16 71570735 [A/G] NM_005769,NM_001166395 CHST4,CHST4 EXON Missense_R52H,Missense_R52H exm1255813 16 71570811 [A/C] NM_005769,NM_001166395 CHST4,CHST4 EXON Missense_H77Q,Missense_H77Q exm1255814 16 71570847 [A/G] NM_005769,NM_001166395 CHST4,CHST4 EXON Missense_M89I,Missense_M89I exm1255823 16 71570978 [A/G] NM_005769,NM_001166395 CHST4,CHST4 EXON Missense_C133Y,Missense_C133Y exm1255826 16 71571026 [A/G] NM_005769,NM_001166395 CHST4,CHST4 EXON Missense_R149Q,Missense_R149Q exm1255840 16 71571220 [T/C] NM_005769,NM_001166395 CHST4,CHST4 EXON Nonsense_R214X,Nonsense_R214X exm1255853 16 71571446 [A/G] NM_005769,NM_001166395 CHST4,CHST4 EXON Missense_R289Q,Missense_R289Q exm1255858 16 71571512 [A/G] NM_005769,NM_001166395 CHST4,CHST4 EXON Missense_R311Q,Missense_R311Q exm1255864 16 71571658 [T/C] NM_005769,NM_001166395 CHST4,CHST4 EXON Missense_R360C,Missense_R360C exm1255866 16 71571737 [T/A] NM_005769,NM_001166395 CHST4,CHST4 EXON Missense_H386L,Missense_H386L exm1255868 16 71602131 [T/C] NM_000353 TAT EXON Missense_M427I exm1255875 16 71602619 [T/C] NM_000353 TAT EXON Missense_A407T exm1255876 16 71602660 [A/G] NM_000353 TAT EXON Missense_T393M exm1255883 16 71603836 [T/C] NM_000353 TAT EXON Missense_N349S exm1255887 16 71604284 [A/G] NM_000353 TAT EXON Missense_V310A exm1255904 16 71606588 [T/C] NM_000353 TAT EXON Missense_V138I exm1255922 16 71610276 [A/G] NM_000353 TAT EXON Missense_P15S exm1255934 16 71660310 [A/G] NM_052858,NM_001271329,NM_001017967 MARVELD3,MARVELD3,MARVELD3 EXON Missense_E60K,Missense_E60K,Missense_E60K exm1255940 16 71660404 [A/G] NM_052858,NM_001271329,NM_001017967 MARVELD3,MARVELD3,MARVELD3 EXON Missense_R91Q,Missense_R91Q,Missense_R91Q exm2225265 16 71660460 [A/C] NM_052858,NM_001271329,NM_001017967 MARVELD3,MARVELD3,MARVELD3 EXON Missense_P110T,Silent,Missense_P110T exm1255946 16 71663270 [T/C] NM_052858,NM_001271329,NM_001017967 MARVELD3,MARVELD3,MARVELD3 EXON Synonymous_S156S,Missense_V102A,Synonymous_S156S exm1255950 16 71663394 [T/A] NM_052858,NM_001271329,NM_001017967 MARVELD3,MARVELD3,MARVELD3 EXON Nonsense_R198X,Synonymous_G143G,Nonsense_R198X exm2225267 16 71668119 [T/C] NM_052858,NM_001271329,NM_001017967 MARVELD3,MARVELD3,MARVELD3 EXON Missense_L207F,Silent,Silent exm1255952 16 71668189 [T/C] NM_052858,NM_001271329,NM_001017967 MARVELD3,MARVELD3,MARVELD3 EXON Missense_T230I,Silent,Silent exm1255954 16 71668272 [C/G] NM_052858,NM_001271329,NM_001017967 MARVELD3,MARVELD3,MARVELD3 EXON Missense_L258V,Silent,Silent exm1255955 16 71668302 [T/C] NM_052858,NM_001271329,NM_001017967 MARVELD3,MARVELD3,MARVELD3 EXON Missense_P268S,Silent,Silent exm1867139 16 71668417 [A/C] NM_052858,NM_001271329,NM_001017967 MARVELD3,MARVELD3,MARVELD3 EXON Missense_E306A,Silent,Silent exm1255966 16 71668510 [A/G] NM_052858,NM_001271329,NM_001017967 MARVELD3,MARVELD3,MARVELD3 EXON Missense_C337Y,Silent,Silent exm1867142 16 71668552 [A/G] NM_052858,NM_001271329,NM_001017967 MARVELD3,MARVELD3,MARVELD3 EXON Missense_G351D,Silent,Silent exm1255977 16 71674405 [A/T] NM_001271329,NM_001017967 MARVELD3,MARVELD3 EXON Silent,Missense_F236L exm1255986 16 71674610 [A/G] NM_001271329,NM_001017967 MARVELD3,MARVELD3 EXON Silent,Missense_A305T exm1255989 16 71674707 [A/G] NM_001271329,NM_001017967 MARVELD3,MARVELD3 EXON Silent,Missense_R337K exm1256004 16 71682803 [A/G] NM_015020 PHLPP2 EXON Missense_T1321I exm1256008 16 71682818 [A/G] NM_015020 PHLPP2 EXON Missense_P1316L exm1256011 16 71682830 [T/C] NM_015020 PHLPP2 EXON Missense_R1312Q exm1256016 16 71682908 [T/A] NM_015020 PHLPP2 EXON Missense_D1286V exm1256018 16 71682921 [T/C] NM_015020 PHLPP2 EXON Missense_V1282I exm1256020 16 71682971 [T/C] NM_015020 PHLPP2 EXON Missense_K1265R exm1256027 16 71683122 [T/C] NM_015020 PHLPP2 EXON Missense_M1215V exm1256038 16 71683418 [T/C] NM_015020 PHLPP2 EXON Missense_R1116Q exm1256040 16 71683476 [T/C] NM_015020 PHLPP2 EXON Missense_A1097T exm1256042 16 71683550 [C/G] NM_015020 PHLPP2 EXON Missense_S1072C exm1256052 16 71683718 [A/G] NM_015020 PHLPP2 EXON Missense_L1016S exm1256067 16 71686754 [T/C] NM_015020 PHLPP2 EXON Missense_S919N exm1256069 16 71686790 [T/C] NM_015020 PHLPP2 EXON Missense_R907Q exm2225270 16 71686856 [T/G] NM_015020 PHLPP2 EXON Missense_A885D exm1256077 16 71686904 [T/C] NM_015020 PHLPP2 EXON Missense_Q869R exm1256085 16 71690493 [T/C] NM_015020 PHLPP2 EXON Missense_M791V exm1256094 16 71692602 [T/C] NM_015020 PHLPP2 EXON Missense_N701S exm1256108 16 71697882 [A/C] NM_015020 PHLPP2 EXON Missense_Q635H exm1256110 16 71697889 [A/G] NM_015020 PHLPP2 EXON Missense_T633M exm1256115 16 71697964 [A/G] NM_015020 PHLPP2 EXON Missense_S608F exm1256121 16 71703205 [T/C] NM_015020 PHLPP2 EXON Missense_Y534C exm1256122 16 71703209 [T/G] NM_015020 PHLPP2 EXON Missense_S533R exm1256133 16 71710408 [G/C] NM_015020 PHLPP2 EXON Missense_Q471H exm1256151 16 71712865 [T/C] NM_015020 PHLPP2 EXON Missense_G354D exm1867205 16 71713301 [T/C] NM_015020 PHLPP2 EXON Missense_N343S exm1256155 16 71713383 [T/C] NM_015020 PHLPP2 EXON Missense_I316V exm2252710 16 71718424 [A/G] NM_015020 PHLPP2 EXON Synonymous_F230F exm1256169 16 71718504 [T/C] NM_015020 PHLPP2 EXON Missense_I204V exm1256178 16 71724461 [T/G] NM_015020 PHLPP2 EXON Missense_Q190H exm1256195 16 71748603 [A/C] NM_015020 PHLPP2 EXON Missense_C32W exm2274856 16 71748677 [T/G] NM_015020 PHLPP2 EXON Missense_N8H exm1256217 16 71773190 [T/G] NM_001030007,NM_001128 AP1G1,AP1G1 EXON Missense_P688H,Missense_P685H exm2225273 16 71779055 [T/C] NM_001030007,NM_001128 AP1G1,AP1G1 EXON Missense_N667S,Missense_N664S exm1256222 16 71779100 [A/G] NM_001030007,NM_001128 AP1G1,AP1G1 EXON Missense_P652L,Missense_P649L exm1256250 16 71787765 [T/C] NM_001030007,NM_001128 AP1G1,AP1G1 EXON Missense_I422V,Missense_I419V exm1256281 16 71803539 [A/G] NM_001030007,NM_001128 AP1G1,AP1G1 EXON Missense_A210V,Missense_A210V exm1256288 16 71805089 [T/A] NM_001030007,NM_001128 AP1G1,AP1G1 EXON Missense_T179S,Missense_T179S exm1256313 16 71884209 [A/C] NM_001137675 ATXN1L EXON Missense_P189Q exm1256315 16 71884231 [G/C] NM_001137675 ATXN1L EXON Missense_H196Q exm1256322 16 71884369 [T/G] NM_001137675 ATXN1L EXON Missense_L242F exm1256325 16 71884430 [G/C] NM_001137675 ATXN1L EXON Missense_L263V exm1256345 16 71885423 [A/G] NM_001137675 ATXN1L EXON Missense_S594G exm1256347 16 71885433 [A/C] NM_001137675 ATXN1L EXON Missense_P597H exm1867282 16 71894055 [C/G] NM_001201556,NM_017530,NM_001201553,NM_001201552,NM_001201554 ZNF821,ZNF821,ZNF821,ZNF821,ZNF821 EXON Silent,Missense_Q327E,Missense_Q369E,Missense_Q369E,Missense_Q327E exm1256367 16 71894324 [A/G] NM_001201556,NM_017530,NM_001201553,NM_001201552,NM_001201554 ZNF821,ZNF821,ZNF821,ZNF821,ZNF821 EXON Silent,Missense_T237M,Missense_T279M,Missense_T279M,Missense_T237M exm1256373 16 71894427 [A/G] NM_001201556,NM_017530,NM_001201553,NM_001201552,NM_001201554 ZNF821,ZNF821,ZNF821,ZNF821,ZNF821 EXON Silent,Missense_R203C,Missense_R245C,Missense_R245C,Missense_R203C exm1256375 16 71894492 [A/G] NM_001201556,NM_017530,NM_001201553,NM_001201552,NM_001201554 ZNF821,ZNF821,ZNF821,ZNF821,ZNF821 EXON Silent,Missense_I181T,Missense_I223T,Missense_I223T,Missense_I181T exm1256394 16 71898924 [A/G] NM_001201556,NM_017530,NM_001201553,NM_001201552,NM_001201554 ZNF821,ZNF821,ZNF821,ZNF821,ZNF821 EXON Missense_T65M,Missense_T23M,Missense_T65M,Missense_T65M,Missense_T23M exm1256403 16 71950537 [G/C] NM_001270976,NM_014761,NM_001270977,NM_001270978,NM_001270979,NM_001270975 IST1,IST1,IST1,IST1,IST1,IST1 EXON Missense_Q100H,Missense_Q87H,Missense_Q87H,Silent,Silent,Missense_Q87H exm1256405 16 71954700 [A/G] NM_001270976,NM_014761,NM_001270977,NM_001270978,NM_001270979,NM_001270975 IST1,IST1,IST1,IST1,IST1,IST1 EXON Missense_N152S,Missense_N139S,Missense_N139S,Silent,Silent,Missense_N139S exm1256407 16 71955270 [A/G] NM_001270976,NM_014761,NM_001270977,NM_001270978,NM_001270979,NM_001270975 IST1,IST1,IST1,IST1,IST1,IST1 EXON Missense_A169T,Missense_A156T,Missense_A156T,Missense_A8T,Missense_A8T,Missense_A156T exm1256426 16 71956548 [A/C] NM_001270976,NM_014761,NM_001270977,NM_001270978,NM_001270979,NM_001270975 IST1,IST1,IST1,IST1,IST1,IST1 EXON Missense_N255H,Missense_N242H,Missense_N242H,Missense_N94H,Missense_N94H,Missense_N242H exm1256437 16 71957201 [A/G] NM_001270976,NM_014761,NM_001270977,NM_001270978,NM_001270979,NM_001270975 IST1,IST1,IST1,IST1,IST1,IST1 EXON Missense_N270S,Missense_N257S,Silent,Missense_N109S,Missense_N109S,Missense_N257S exm1256439 16 71957215 [C/G] NM_001270976,NM_014761,NM_001270977,NM_001270978,NM_001270979,NM_001270975 IST1,IST1,IST1,IST1,IST1,IST1 EXON Missense_G275R,Missense_G262R,Silent,Missense_G114R,Missense_G114R,Missense_G262R exm1256440 16 71957216 [G/C] NM_001270976,NM_014761,NM_001270977,NM_001270978,NM_001270979,NM_001270975 IST1,IST1,IST1,IST1,IST1,IST1 EXON Missense_G275A,Missense_G262A,Silent,Missense_G114A,Missense_G114A,Missense_G262A exm1256448 16 71961535 [A/C] NM_001270976,NM_014761,NM_001270977,NM_001270978,NM_001270979,NM_001270975 IST1,IST1,IST1,IST1,IST1,IST1 EXON Missense_E320A,Missense_K306Q,Missense_E276A,Missense_E159A,Missense_E159A,Missense_E307A exm1256450 16 71961563 [T/C] NM_001270976,NM_014761,NM_001270977,NM_001270978,NM_001270979,NM_001270975 IST1,IST1,IST1,IST1,IST1,IST1 EXON Synonymous_P329P,Missense_L315P,Synonymous_P285P,Synonymous_P168P,Synonymous_P168P,Synonymous_P316P exm1256457 16 71963487 [A/G] NM_001270976,NM_014761,NM_001270977,NM_001270978,NM_001270979,NM_001270975,NM_181536 IST1,IST1,IST1,IST1,IST1,IST1,PKD1L3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Nonsense_R1717X exm-rs16973500 16 71965196 [T/C] NM_181536 PKD1L3 Silent exm1256465 16 71967927 [T/C] NM_181536 PKD1L3 EXON Missense_V1571I exm1256474 16 71976636 [A/G] NM_181536 PKD1L3 EXON Missense_R1383C exm2225283 16 71977944 [T/C] NM_181536 PKD1L3 EXON Missense_E1282K exm2225284 16 71977988 [A/G] NM_181536 PKD1L3 EXON Missense_T1267I exm1256481 16 71978069 [T/C] NM_181536 PKD1L3 EXON Missense_N1240S exm1256483 16 71981406 [A/G] NM_181536 PKD1L3 EXON Missense_W1235R exm1256486 16 71983772 [C/G] NM_181536 PKD1L3 EXON Missense_S1176R exm1256501 16 71985633 [T/G] NM_181536 PKD1L3 EXON Missense_E1007A exm2252711 16 71986895 [T/C] NM_181536 PKD1L3 EXON Synonymous_P969P exm1256508 16 71986933 [C/G] NM_181536 PKD1L3 EXON Missense_L957V exm1256511 16 71988018 [T/G] NM_181536 PKD1L3 EXON Missense_K932T exm1256516 16 71988132 [T/C] NM_181536 PKD1L3 EXON Missense_R894Q exm1256519 16 71997144 [T/C] NM_181536 PKD1L3 EXON Missense_V858I exm1256527 16 72001136 [A/G] NM_181536 PKD1L3 EXON Nonsense_R789X exm1256531 16 72001906 [A/C] NM_181536 PKD1L3 EXON Missense_V729L exm1256543 16 72003952 [G/C] NM_181536 PKD1L3 EXON Missense_T669S exm1256550 16 72007305 [T/C] NM_181536 PKD1L3 EXON Missense_S624N exm1256557 16 72007399 [T/C] NM_181536 PKD1L3 EXON Missense_V593M exm1256559 16 72011162 [C/G] NM_181536 PKD1L3 EXON Missense_L578V exm1256560 16 72011181 [T/G] NM_181536 PKD1L3 EXON Missense_H571Q exm2225288 16 72011246 [A/C] NM_181536 PKD1L3 EXON Missense_D550Y exm1256568 16 72012239 [C/G] NM_181536 PKD1L3 EXON Missense_R481T exm1256573 16 72013797 [C/G] NM_181536 PKD1L3 EXON Missense_T429S exm1256589 16 72018023 [T/C] NM_181536 PKD1L3 EXON Missense_G293D exm1256594 16 72020134 [T/C] NM_181536 PKD1L3 EXON Missense_K274E exm1256603 16 72020369 [T/C] NM_181536 PKD1L3 Silent exm2264602 16 72023633 [A/C] NM_181536 PKD1L3 Silent exm1256613 16 72032231 [A/T] NM_181536 PKD1L3 EXON Missense_I120F exm-IND16-70591122 16 72033622 [D/I] NM_181536 PKD1L3 EXON exm1256621 16 72033801 [T/G] NM_181536 PKD1L3 EXON Missense_P26Q exm1256622 16 72033810 [A/C] NM_181536 PKD1L3 EXON Missense_L23R exm1256625 16 72042682 [A/C] NM_001361 DHODH EXON Missense_K7Q exm1867334 16 72045953 [A/G] NM_001361 DHODH EXON Missense_R9Q exm1256632 16 72046031 [A/G] NM_001361 DHODH EXON Missense_R35H exm1256646 16 72048540 [T/C] NM_001361 DHODH EXON Missense_R135C exm1256651 16 72050945 [A/C] NM_001361 DHODH EXON Missense_L153I exm1256657 16 72055024 [T/C] NM_001361 DHODH EXON Synonymous_D173D exm1256662 16 72055088 [A/G] NM_001361 DHODH EXON Missense_A195T exm1867353 16 72055097 [A/G] NM_001361 DHODH EXON Missense_V198M exm1256666 16 72055187 [A/G] NM_001361 DHODH EXON Missense_E228K exm1256679 16 72057113 [T/C] NM_001361 DHODH EXON Missense_A290V exm1256683 16 72057134 [A/G] NM_001361 DHODH EXON Missense_R297H exm1256686 16 72057193 [T/C] NM_001361 DHODH EXON Missense_R317W exm1256688 16 72057382 [T/C] NM_001361 DHODH EXON Missense_P328L exm1256693 16 72057421 [T/C] NM_001361 DHODH EXON Missense_A341V exm1256694 16 72057435 [T/C] NM_001361 DHODH EXON Missense_R346W exm2225292 16 72057523 [T/C] NM_001361 DHODH EXON Missense_A375V exm1256710 16 72090073 [G/C] NM_005143,NM_001126102 HP,HP EXON Missense_V7L,Missense_V7L exm1256725 16 72094118 [T/A] NM_005143,NM_001126102 HP,HP EXON Missense_N184Y,Missense_N125Y exm1256736 16 72094308 [T/C] NM_005143,NM_001126102 HP,HP EXON Missense_I247T,Missense_I188T exm1256740 16 72094398 [A/G] NM_005143,NM_001126102 HP,HP EXON Missense_R277H,Missense_R218H exm1256743 16 72094425 [A/G] NM_005143,NM_001126102 HP,HP EXON Missense_R286Q,Missense_R227Q exm-rs2000999 16 72108093 [A/G] NM_020995 HPR Silent exm1256782 16 72108264 [C/G] NM_020995 HPR EXON Missense_R58T exm1256802 16 72110488 [C/G] NM_020995 HPR EXON Missense_H185Q exm1256803 16 72110499 [T/C] NM_020995 HPR EXON Missense_I189T exm1256807 16 72110528 [T/C] NM_020995 HPR EXON Missense_L199F exm1256808 16 72110529 [T/C] NM_020995 HPR EXON Missense_L199P exm1256813 16 72110589 [A/G] NM_020995 HPR EXON Missense_R219H exm1256814 16 72110594 [T/G] NM_020995 HPR EXON Missense_G221C exm1256815 16 72110637 [A/C] NM_020995 HPR EXON Missense_T235N exm1256818 16 72110695 [T/A] NM_020995 HPR EXON Missense_H254Q exm1256819 16 72110703 [A/G] NM_020995 HPR EXON Missense_G257D exm1256821 16 72110756 [A/G] NM_020995 HPR EXON Missense_I275V exm1256850 16 72120619 [T/C] NM_001142317,NM_017853,NM_001142318 TXNL4B,TXNL4B,TXNL4B EXON Missense_A123T,Missense_A123T,Missense_A123T exm1256851 16 72120629 [G/C] NM_001142317,NM_017853,NM_001142318 TXNL4B,TXNL4B,TXNL4B EXON Missense_I119M,Missense_I119M,Missense_I119M exm1256861 16 72123007 [T/A] NM_001142317,NM_017853,NM_001142318 TXNL4B,TXNL4B,TXNL4B EXON Missense_M55L,Missense_M55L,Missense_M55L exm1256869 16 72130103 [G/C] NM_014003 DHX38 EXON Missense_T16S exm1256881 16 72130232 [A/G] NM_014003 DHX38 EXON Missense_R59Q exm2274857 16 72130735 [T/C] NM_014003 DHX38 EXON Missense_A113V exm1256893 16 72130806 [T/C] NM_014003 DHX38 EXON Missense_R137W exm1256901 16 72130884 [T/G] NM_014003 DHX38 EXON Missense_D163Y exm1256907 16 72131617 [G/C] NM_014003 DHX38 EXON Missense_D185H exm1256922 16 72132924 [T/C] NM_014003 DHX38 EXON Missense_P288L exm1256923 16 72132927 [A/G] NM_014003 DHX38 EXON Missense_R289H exm1256926 16 72133120 [A/G] NM_014003 DHX38 EXON Missense_E301K exm1256927 16 72133142 [T/C] NM_014003 DHX38 EXON Missense_T308M exm2225303 16 72133731 [A/G] NM_014003 DHX38 EXON Missense_H354R exm1256938 16 72134384 [A/G] NM_014003 DHX38 EXON Missense_H389R exm1256939 16 72134393 [A/G] NM_014003 DHX38 EXON Missense_E392G exm1256955 16 72135487 [T/C] NM_014003 DHX38 EXON Missense_T492M exm1256956 16 72135493 [A/C] NM_014003 DHX38 EXON Missense_D494A exm1256971 16 72137935 [T/C] NM_014003 DHX38 EXON Missense_R639W exm1256980 16 72138395 [C/G] NM_014003 DHX38 EXON Missense_R674P exm1256992 16 72138987 [A/G] NM_014003 DHX38 EXON Missense_G738E exm1256993 16 72138989 [A/G] NM_014003 DHX38 EXON Missense_A739T exm1257022 16 72141640 [T/C] NM_014003 DHX38 EXON Missense_S969F exm1257024 16 72141681 [A/G] NM_014003 DHX38 EXON Missense_I983V exm1257031 16 72142249 [A/G] NM_014003 DHX38 EXON Missense_D1030N exm1257044 16 72143357 [G/C] NM_014003 DHX38 EXON Missense_A1142G exm1257060 16 72146374 [T/C] NM_014003 DHX38 EXON Missense_T1221M exm1257070 16 72153820 [T/C] NM_031293,NM_001160213 PMFBP1,PMFBP1 EXON Nonsense_W979X,Nonsense_W854X exm1257075 16 72153863 [A/G] NM_031293,NM_001160213 PMFBP1,PMFBP1 EXON Missense_T965M,Missense_T840M exm1257081 16 72153972 [T/C] NM_031293,NM_001160213 PMFBP1,PMFBP1 EXON Missense_M929V,Missense_M804V exm1257082 16 72154010 [T/C] NM_031293,NM_001160213 PMFBP1,PMFBP1 EXON Silent,Missense_R791H exm1257086 16 72156842 [T/G] NM_031293,NM_001160213 PMFBP1,PMFBP1 EXON Missense_K913N,Missense_K768N exm1257087 16 72156846 [A/G] NM_031293,NM_001160213 PMFBP1,PMFBP1 EXON Missense_V912A,Missense_V767A exm1257089 16 72156856 [A/G] NM_031293,NM_001160213 PMFBP1,PMFBP1 EXON Nonsense_R909X,Nonsense_R764X exm1257108 16 72159166 [A/G] NM_031293,NM_001160213 PMFBP1,PMFBP1 EXON Missense_R798W,Missense_R653W exm1257131 16 72162694 [T/C] NM_031293,NM_001160213 PMFBP1,PMFBP1 Silent,Silent exm1257140 16 72164125 [C/G] NM_031293,NM_001160213 PMFBP1,PMFBP1 EXON Missense_R590P,Missense_R445P exm1257146 16 72164233 [A/G] NM_031293,NM_001160213 PMFBP1,PMFBP1 EXON Missense_L554S,Missense_L409S exm1257147 16 72164240 [C/G] NM_031293,NM_001160213 PMFBP1,PMFBP1 EXON Missense_L552V,Missense_L407V exm1257149 16 72164438 [A/G] NM_031293,NM_001160213 PMFBP1,PMFBP1 EXON Missense_S544F,Missense_S399F exm1257151 16 72164475 [T/G] NM_031293,NM_001160213 PMFBP1,PMFBP1 EXON Missense_Q532K,Missense_Q387K exm1257159 16 72166742 [T/G] NM_031293,NM_001160213 PMFBP1,PMFBP1 EXON Missense_D451A,Missense_D306A exm1257171 16 72170408 [A/C] NM_031293,NM_001160213 PMFBP1,PMFBP1 EXON Missense_R381L,Missense_R236L exm1257178 16 72170469 [A/G] NM_031293,NM_001160213 PMFBP1,PMFBP1 EXON Missense_R361W,Missense_R216W exm1257182 16 72170593 [A/C] NM_031293,NM_001160213 PMFBP1,PMFBP1 EXON Missense_K348N,Missense_K203N exm1257183 16 72170628 [T/C] NM_031293,NM_001160213 PMFBP1,PMFBP1 EXON Missense_E337K,Missense_E192K exm1257188 16 72170699 [T/C] NM_031293,NM_001160213 PMFBP1,PMFBP1 EXON Missense_E313G,Missense_E168G exm1257190 16 72173192 [T/C] NM_031293,NM_001160213 PMFBP1,PMFBP1 EXON Missense_K305R,Missense_K160R exm1257193 16 72173288 [T/C] NM_031293,NM_001160213 PMFBP1,PMFBP1 EXON Missense_R273H,Missense_R128H exm1257194 16 72174309 [A/G] NM_031293,NM_001160213 PMFBP1,PMFBP1 Silent,Silent exm1257198 16 72174366 [T/C] NM_031293,NM_001160213 PMFBP1,PMFBP1 EXON Missense_Q251R,Missense_Q106R exm1257201 16 72174397 [A/G] NM_031293,NM_001160213 PMFBP1,PMFBP1 EXON Nonsense_R241X,Nonsense_R96X exm1257206 16 72184566 [T/C] NM_031293,NM_001160213 PMFBP1,PMFBP1 EXON Missense_E193K,Missense_E48K exm1257207 16 72184596 [T/C] NM_031293,NM_001160213 PMFBP1,PMFBP1 EXON Missense_D183N,Missense_D38N exm1257209 16 72184629 [T/C] NM_031293,NM_001160213 PMFBP1,PMFBP1 EXON Missense_A172T,Missense_A27T exm1867564 16 72184631 [A/C] NM_031293,NM_001160213 PMFBP1,PMFBP1 EXON Missense_I171S,Missense_I26S exm1257220 16 72188244 [A/G] NM_031293,NM_001160213 PMFBP1,PMFBP1 EXON Nonsense_Q94X,Silent exm1867571 16 72188294 [T/C] NM_031293,NM_001160213 PMFBP1,PMFBP1 EXON Missense_Q77R,Silent exm1257231 16 72198814 [A/G] NM_031293,NM_001160213 PMFBP1,PMFBP1 EXON Missense_A5V,Silent exm2272448 16 72218612 [T/C] exm2252715 16 72329510 [T/C] exm-rs8048832 16 72688650 [T/C] exm2272449 16 72747560 [T/C] exm1257236 16 72821110 [T/C] NM_006885,NM_001164766 ZFHX3,ZFHX3 EXON Missense_K3689E,Missense_K2775E exm1257243 16 72821217 [A/G] NM_006885,NM_001164766 ZFHX3,ZFHX3 EXON Missense_P3653L,Missense_P2739L exm1257255 16 72821341 [T/C] NM_006885,NM_001164766 ZFHX3,ZFHX3 EXON Missense_A3612T,Missense_A2698T exm1257256 16 72821344 [A/G] NM_006885,NM_001164766 ZFHX3,ZFHX3 EXON Missense_H3611Y,Missense_H2697Y exm1257261 16 72821377 [C/G] NM_006885,NM_001164766 ZFHX3,ZFHX3 EXON Missense_P3600A,Missense_P2686A exm1257302 16 72821656 [G/C] NM_006885,NM_001164766 ZFHX3,ZFHX3 EXON Missense_G3507R,Missense_G2593R exm1257313 16 72821823 [G/C] NM_006885,NM_001164766 ZFHX3,ZFHX3 EXON Missense_S3451C,Missense_S2537C exm1257326 16 72821962 [T/G] NM_006885,NM_001164766 ZFHX3,ZFHX3 EXON Missense_P3405T,Missense_P2491T exm1257331 16 72822109 [T/A] NM_006885,NM_001164766 ZFHX3,ZFHX3 EXON Missense_S3356T,Missense_S2442T exm1257336 16 72822156 [T/C] NM_006885,NM_001164766 ZFHX3,ZFHX3 EXON Missense_G3340D,Missense_G2426D exm1257349 16 72822351 [A/G] NM_006885,NM_001164766 ZFHX3,ZFHX3 EXON Missense_P3275L,Missense_P2361L exm1257352 16 72822406 [T/G] NM_006885,NM_001164766 ZFHX3,ZFHX3 EXON Missense_P3257T,Missense_P2343T exm1257364 16 72822574 [T/G] NM_006885,NM_001164766 ZFHX3,ZFHX3 EXON Missense_Q3201K,Missense_Q2287K exm1257373 16 72822645 [A/G] NM_006885,NM_001164766 ZFHX3,ZFHX3 EXON Missense_S3177L,Missense_S2263L exm1257376 16 72822678 [A/G] NM_006885,NM_001164766 ZFHX3,ZFHX3 EXON Missense_T3166I,Missense_T2252I exm1257383 16 72827202 [A/G] NM_006885,NM_001164766 ZFHX3,ZFHX3 EXON Missense_P3127S,Missense_P2213S exm1257398 16 72827541 [T/C] NM_006885,NM_001164766 ZFHX3,ZFHX3 EXON Missense_I3014V,Missense_I2100V exm1257405 16 72827874 [T/C] NM_006885,NM_001164766 ZFHX3,ZFHX3 EXON Missense_S2903G,Missense_S1989G exm1257416 16 72828024 [T/C] NM_006885,NM_001164766 ZFHX3,ZFHX3 EXON Missense_A2853T,Missense_A1939T exm1257427 16 72828279 [T/A] NM_006885,NM_001164766 ZFHX3,ZFHX3 EXON Missense_T2768S,Missense_T1854S exm1257430 16 72828304 [A/C] NM_006885,NM_001164766 ZFHX3,ZFHX3 EXON Missense_Q2759H,Missense_Q1845H exm1257444 16 72828693 [T/C] NM_006885,NM_001164766 ZFHX3,ZFHX3 EXON Missense_D2630N,Missense_D1716N exm1257452 16 72828831 [T/G] NM_006885,NM_001164766 ZFHX3,ZFHX3 EXON Missense_L2584M,Missense_L1670M exm1257455 16 72828867 [T/C] NM_006885,NM_001164766 ZFHX3,ZFHX3 EXON Missense_M2572V,Missense_M1658V exm1257456 16 72828890 [T/C] NM_006885,NM_001164766 ZFHX3,ZFHX3 EXON Missense_Q2564R,Missense_Q1650R exm1257459 16 72828914 [A/G] NM_006885,NM_001164766 ZFHX3,ZFHX3 EXON Missense_A2556V,Missense_A1642V exm1257477 16 72829368 [T/C] NM_006885,NM_001164766 ZFHX3,ZFHX3 EXON Missense_A2405T,Missense_A1491T exm1257478 16 72829400 [A/G] NM_006885,NM_001164766 ZFHX3,ZFHX3 EXON Missense_P2394L,Missense_P1480L exm1867703 16 72829555 [T/A] NM_006885,NM_001164766 ZFHX3,ZFHX3 EXON Missense_D2342E,Missense_D1428E exm1257501 16 72830199 [C/G] NM_006885,NM_001164766 ZFHX3,ZFHX3 EXON Missense_L2128V,Missense_L1214V exm1257502 16 72830205 [T/C] NM_006885,NM_001164766 ZFHX3,ZFHX3 EXON Missense_A2126T,Missense_A1212T exm1257511 16 72830276 [A/G] NM_006885,NM_001164766 ZFHX3,ZFHX3 EXON Missense_M2102T,Missense_M1188T exm1257512 16 72830300 [A/G] NM_006885,NM_001164766 ZFHX3,ZFHX3 EXON Missense_L2094P,Missense_L1180P exm1257514 16 72830313 [T/C] NM_006885,NM_001164766 ZFHX3,ZFHX3 EXON Missense_M2090V,Missense_M1176V exm1257527 16 72830539 [G/C] NM_006885,NM_001164766 ZFHX3,ZFHX3 EXON Missense_Q2014H,Missense_Q1100H exm1257534 16 72830704 [C/G] NM_006885,NM_001164766 ZFHX3,ZFHX3 EXON Missense_Q1959H,Missense_Q1045H exm1257542 16 72830867 [A/G] NM_006885,NM_001164766 ZFHX3,ZFHX3 EXON Missense_P1905L,Missense_P991L exm1257551 16 72831026 [T/G] NM_006885,NM_001164766 ZFHX3,ZFHX3 EXON Missense_Q1852P,Missense_Q938P exm1257554 16 72831111 [G/C] NM_006885,NM_001164766 ZFHX3,ZFHX3 EXON Missense_L1824V,Missense_L910V exm1257555 16 72831132 [A/C] NM_006885,NM_001164766 ZFHX3,ZFHX3 EXON Missense_V1817L,Missense_V903L exm1257557 16 72831151 [T/G] NM_006885,NM_001164766 ZFHX3,ZFHX3 EXON Missense_N1810K,Missense_N896K exm1257567 16 72831324 [G/C] NM_006885,NM_001164766 ZFHX3,ZFHX3 EXON Missense_Q1753E,Missense_Q839E exm1257584 16 72831555 [T/C] NM_006885,NM_001164766 ZFHX3,ZFHX3 EXON Missense_S1676G,Missense_S762G exm1257586 16 72831629 [A/G] NM_006885,NM_001164766 ZFHX3,ZFHX3 EXON Missense_T1651M,Missense_T737M exm1257591 16 72831776 [T/C] NM_006885,NM_001164766 ZFHX3,ZFHX3 EXON Missense_N1602S,Missense_N688S exm1257593 16 72831834 [A/C] NM_006885,NM_001164766 ZFHX3,ZFHX3 EXON Missense_G1583C,Missense_G669C exm1257599 16 72831976 [T/C] NM_006885,NM_001164766 ZFHX3,ZFHX3 EXON Missense_M1535I,Missense_M621I exm1257601 16 72832025 [A/G] NM_006885,NM_001164766 ZFHX3,ZFHX3 EXON Missense_S1519L,Missense_S605L exm1257604 16 72832031 [A/G] NM_006885,NM_001164766 ZFHX3,ZFHX3 EXON Missense_S1517L,Missense_S603L exm1257606 16 72832064 [A/G] NM_006885,NM_001164766 ZFHX3,ZFHX3 EXON Missense_T1506M,Missense_T592M exm1867723 16 72832153 [T/C] NM_006885,NM_001164766 ZFHX3,ZFHX3 EXON Missense_M1476I,Missense_M562I exm2252718 16 72832285 [A/G] NM_006885,NM_001164766 ZFHX3,ZFHX3 EXON Synonymous_C1432C,Synonymous_C518C exm1257623 16 72832550 [A/C] NM_006885,NM_001164766 ZFHX3,ZFHX3 EXON Missense_L1344W,Missense_L430W exm1257634 16 72845630 [T/C] NM_006885,NM_001164766 ZFHX3,ZFHX3 EXON Missense_R1237Q,Missense_R323Q exm2252719 16 72845843 [A/C] NM_006885,NM_001164766 ZFHX3,ZFHX3 EXON Synonymous_S1208S,Synonymous_S294S exm-rs16971384 16 72931085 [A/G] NM_006885,NM_001164766 ZFHX3,ZFHX3 Silent,Silent exm2272399 16 72981230 [T/C] NM_006885,NM_001164766 ZFHX3,ZFHX3 Silent,Silent exm1257703 16 72984481 [T/C] NM_006885,NM_001164766 ZFHX3,ZFHX3 EXON Missense_G1035S,Missense_G121S exm1257710 16 72984595 [A/C] NM_006885,NM_001164766 ZFHX3,ZFHX3 EXON Missense_A997S,Missense_A83S exm1257712 16 72984616 [A/G] NM_006885,NM_001164766 ZFHX3,ZFHX3 EXON Missense_R990C,Missense_R76C exm1257719 16 72984714 [T/C] NM_006885,NM_001164766 ZFHX3,ZFHX3 EXON Missense_N957S,Missense_N43S exm1257721 16 72984739 [T/C] NM_006885,NM_001164766 ZFHX3,ZFHX3 EXON Missense_V949I,Missense_V35I exm1257745 16 72991395 [G/C] NM_006885,NM_001164766 ZFHX3,ZFHX3 EXON Missense_A884P,Silent exm1257749 16 72991451 [T/C] NM_006885,NM_001164766 ZFHX3,ZFHX3 EXON Missense_Y865C,Silent exm1257763 16 72991637 [A/G] NM_006885,NM_001164766 ZFHX3,ZFHX3 EXON Missense_T803I,Silent exm1257771 16 72991700 [A/G] NM_006885,NM_001164766 ZFHX3,ZFHX3 EXON Missense_A782V,Silent exm1257799 16 72992102 [A/G] NM_006885,NM_001164766 ZFHX3,ZFHX3 EXON Missense_V648A,Silent exm1257805 16 72992156 [G/C] NM_006885,NM_001164766 ZFHX3,ZFHX3 EXON Missense_G630A,Silent exm1257810 16 72992196 [T/C] NM_006885,NM_001164766 ZFHX3,ZFHX3 EXON Missense_V617I,Silent exm1257818 16 72992292 [T/C] NM_006885,NM_001164766 ZFHX3,ZFHX3 EXON Missense_G585S,Silent exm1257819 16 72992316 [T/C] NM_006885,NM_001164766 ZFHX3,ZFHX3 EXON Missense_V577I,Silent exm1257822 16 72992378 [C/G] NM_006885,NM_001164766 ZFHX3,ZFHX3 EXON Missense_S556C,Silent exm1257824 16 72992414 [A/G] NM_006885,NM_001164766 ZFHX3,ZFHX3 EXON Missense_S544L,Silent exm1257826 16 72992480 [T/C] NM_006885,NM_001164766 ZFHX3,ZFHX3 EXON Missense_D522G,Silent exm1257834 16 72992580 [T/C] NM_006885,NM_001164766 ZFHX3,ZFHX3 EXON Missense_E489K,Silent exm1257846 16 72992660 [T/G] NM_006885,NM_001164766 ZFHX3,ZFHX3 EXON Missense_E462A,Silent exm1257847 16 72992667 [C/G] NM_006885,NM_001164766 ZFHX3,ZFHX3 EXON Missense_E460Q,Silent exm1257857 16 72992763 [T/G] NM_006885,NM_001164766 ZFHX3,ZFHX3 EXON Missense_T428P,Silent exm1257870 16 72992910 [G/C] NM_006885,NM_001164766 ZFHX3,ZFHX3 EXON Missense_L379V,Silent exm1257877 16 72993081 [T/C] NM_006885,NM_001164766 ZFHX3,ZFHX3 EXON Missense_I322V,Silent exm1257883 16 72993128 [T/C] NM_006885,NM_001164766 ZFHX3,ZFHX3 EXON Missense_R306Q,Silent exm1257888 16 72993159 [A/G] NM_006885,NM_001164766 ZFHX3,ZFHX3 EXON Missense_S296P,Silent exm1257896 16 72993366 [T/C] NM_006885,NM_001164766 ZFHX3,ZFHX3 EXON Missense_V227I,Silent exm2252722 16 72993433 [A/G] NM_006885,NM_001164766 ZFHX3,ZFHX3 EXON Synonymous_F204F,Silent exm1257900 16 72993433 [A/G] NM_006885,NM_001164766 ZFHX3,ZFHX3 EXON Synonymous_F204F,Silent exm1257909 16 72993515 [A/G] NM_006885,NM_001164766 ZFHX3,ZFHX3 EXON Missense_A177V,Silent exm1257912 16 72993609 [T/C] NM_006885,NM_001164766 ZFHX3,ZFHX3 EXON Missense_S146G,Silent exm1257917 16 72993635 [A/G] NM_006885,NM_001164766 ZFHX3,ZFHX3 EXON Missense_P137L,Silent exm1257925 16 72993725 [A/G] NM_006885,NM_001164766 ZFHX3,ZFHX3 EXON Missense_P107L,Silent exm1257935 16 72993831 [A/C] NM_006885,NM_001164766 ZFHX3,ZFHX3 EXON Missense_S72A,Silent exm1257939 16 72993860 [A/G] NM_006885,NM_001164766 ZFHX3,ZFHX3 EXON Missense_A62V,Silent exm2276457 16 72993904 [A/G] NM_006885,NM_001164766 ZFHX3,ZFHX3 EXON Synonymous_H47H,Silent exm-rs7199343 16 73009024 [A/T] NM_006885,NM_001164766 ZFHX3,ZFHX3 Silent,Silent exm-rs7193343 16 73029160 [T/C] NM_006885,NM_001164766 ZFHX3,ZFHX3 Silent,Silent exm-rs2106261 16 73051620 [T/C] NM_006885,NM_001164766 ZFHX3,ZFHX3 Silent,Silent exm2252723 16 73140753 [A/G] exm2272450 16 73495661 [T/C] exm-rs12446956 16 73501536 [T/C] exm-rs825842 16 73525237 [A/G] exm-rs7191888 16 73581058 [A/G] exm2267907 16 73793552 [A/G] exm2272400 16 74264261 [T/C] exm1258037 16 74338238 [A/C] NM_002811 PSMD7 EXON Missense_T159N exm1258042 16 74339302 [A/G] NM_002811 PSMD7 EXON Missense_A216T exm1258043 16 74339320 [A/G] NM_002811 PSMD7 EXON Missense_I222V exm1258044 16 74339353 [A/G] NM_002811 PSMD7 EXON Missense_V233I exm1258045 16 74339360 [A/G] NM_002811 PSMD7 EXON Missense_N235S exm1258061 16 74339606 [A/G] NM_002811 PSMD7 EXON Missense_K317R exm-rs10871290 16 74472696 [T/C] exm2225334 16 74481327 [T/C] NR_027264,NM_001145667,NR_027265,NM_012201,NM_001145666 GLG1,GLG1,GLG1,GLG1,GLG1 EXON Silent,Silent,Silent,Silent,Silent exm1258282 16 74496390 [T/C] NR_027264,NM_001145667,NR_027265,NM_012201,NM_001145666 GLG1,GLG1,GLG1,GLG1,GLG1 EXON Silent,Missense_D977G,Silent,Missense_D977G,Missense_D966G exm1258299 16 74499668 [A/C] NR_027264,NM_001145667,NR_027265,NM_012201,NM_001145666 GLG1,GLG1,GLG1,GLG1,GLG1 EXON Silent,Missense_R858L,Silent,Missense_R858L,Missense_R847L exm1258356 16 74525019 [T/G] NR_027264,NM_001145667,NR_027265,NM_012201,NM_001145666 GLG1,GLG1,GLG1,GLG1,GLG1 EXON Silent,Missense_S443R,Silent,Missense_S443R,Missense_S432R exm1258397 16 74640577 [A/T] NR_027264,NM_001145667,NR_027265,NM_012201,NM_001145666 GLG1,GLG1,GLG1,GLG1,GLG1 EXON Silent,Missense_E139V,Silent,Missense_E139V,Missense_E139V exm1258403 16 74640655 [A/G] NR_027264,NM_001145667,NR_027265,NM_012201,NM_001145666 GLG1,GLG1,GLG1,GLG1,GLG1 EXON Silent,Missense_A113V,Silent,Missense_A113V,Missense_A113V exm1258408 16 74640959 [A/G] NR_027264,NM_001145667,NR_027265,NM_012201,NM_001145666 GLG1,GLG1,GLG1,GLG1,GLG1 EXON Silent,Missense_R12C,Silent,Missense_R12C,Missense_R12C exm1258416 16 74657852 [T/C] NM_018124 RFWD3 EXON Missense_M767V exm1258420 16 74657885 [A/G] NM_018124 RFWD3 EXON Missense_R756C exm1258429 16 74660404 [T/C] NM_018124 RFWD3 EXON Missense_R673Q exm1258435 16 74662479 [T/C] NM_018124 RFWD3 EXON Missense_D614N exm1258443 16 74664743 [T/C] NM_018124 RFWD3 EXON Missense_I564V exm1258447 16 74664839 [T/C] NM_018124 RFWD3 EXON Missense_V532M exm1258453 16 74670306 [T/C] NM_018124 RFWD3 EXON Missense_Y455C exm1258458 16 74670436 [T/G] NM_018124 RFWD3 EXON Missense_Q412K exm1258471 16 74671866 [A/G] NM_018124 RFWD3 EXON Missense_S361F exm1258486 16 74683047 [T/C] NM_018124 RFWD3 EXON Missense_K259E exm1258497 16 74685979 [T/G] NM_018124 RFWD3 EXON Missense_T187N exm1258505 16 74694972 [T/C] NM_018124 RFWD3 EXON Missense_G126R exm1258517 16 74695127 [A/G] NM_018124 RFWD3 EXON Missense_P74L exm1258522 16 74695203 [T/C] NM_018124 RFWD3 EXON Missense_V49I exm1868155 16 74708858 [A/C] NM_001142497,NM_152649 MLKL,MLKL EXON Nonsense_E253X,Nonsense_E461X exm1258541 16 74708900 [A/C] NM_001142497,NM_152649 MLKL,MLKL EXON Nonsense_E239X,Nonsense_E447X exm1258542 16 74708906 [T/G] NM_001142497,NM_152649 MLKL,MLKL EXON Missense_I237L,Missense_I445L exm1868158 16 74708935 [T/G] NM_001142497,NM_152649 MLKL,MLKL EXON Missense_E227A,Missense_E435A exm1258549 16 74709233 [A/C] NM_001142497,NM_152649 MLKL,MLKL EXON Missense_G202V,Silent exm2225339 16 74709263 [T/G] NM_001142497,NM_152649 MLKL,MLKL EXON Missense_S192Y,Synonymous_I410I exm1258554 16 74709278 [A/G] NM_001142497,NM_152649 MLKL,MLKL EXON Missense_S187L,Synonymous_I405I exm1258562 16 74709610 [A/G] NM_001142497,NM_152649 MLKL,MLKL EXON Silent,Missense_T364M exm1258566 16 74712876 [A/C] NM_001142497,NM_152649 MLKL,MLKL EXON Silent,Missense_L320R exm1258573 16 74716589 [A/G] NM_001142497,NM_152649 MLKL,MLKL EXON Silent,Missense_R306C exm1258591 16 74725190 [T/C] NM_001142497,NM_152649 MLKL,MLKL EXON Silent,Missense_Q236R exm1258603 16 74726270 [T/G] NM_001142497,NM_152649 MLKL,MLKL EXON Missense_M169L,Missense_M169L exm1258605 16 74726308 [A/T] NM_001142497,NM_152649 MLKL,MLKL EXON Missense_E156V,Missense_E156V exm1258609 16 74729207 [A/C] NM_001142497,NM_152649 MLKL,MLKL EXON Missense_M150R,Missense_M150R exm1258610 16 74729219 [T/C] NM_001142497,NM_152649 MLKL,MLKL EXON Missense_R146Q,Missense_R146Q exm1258611 16 74729241 [A/G] NM_001142497,NM_152649 MLKL,MLKL EXON Nonsense_Q139X,Nonsense_Q139X exm1258613 16 74729262 [A/G] NM_001142497,NM_152649 MLKL,MLKL EXON Missense_S132P,Missense_S132P exm1258616 16 74729356 [G/C] NM_001142497,NM_152649 MLKL,MLKL EXON Missense_D100E,Missense_D100E exm1258617 16 74729357 [T/C] NM_001142497,NM_152649 MLKL,MLKL EXON Missense_D100G,Missense_D100G exm1258621 16 74729461 [T/G] NM_001142497,NM_152649 MLKL,MLKL EXON Missense_F65L,Missense_F65L exm1258623 16 74729501 [G/C] NM_001142497,NM_152649 MLKL,MLKL EXON Missense_S52T,Missense_S52T exm1258630 16 74729601 [T/C] NM_001142497,NM_152649 MLKL,MLKL EXON Missense_E19K,Missense_E19K exm1258631 16 74729606 [T/C] NM_001142497,NM_152649 MLKL,MLKL EXON Missense_R17Q,Missense_R17Q exm1258634 16 74729655 [T/C] NM_001142497,NM_152649 MLKL,MLKL EXON Missense_M1V,Missense_M1V exm1258638 16 74748095 [A/G] NM_024306 FA2H EXON Missense_T371M exm1258640 16 74748120 [T/G] NM_024306 FA2H EXON Missense_T363P exm1258648 16 74750359 [T/C] NM_024306 FA2H EXON Missense_V309I exm1868193 16 74750379 [A/G] NM_024306 FA2H EXON Missense_A302V exm1258655 16 74750437 [T/C] NM_024306 FA2H EXON Missense_V283I exm2272401 16 74755511 [T/G] NM_024306 FA2H Silent exm1258672 16 74760137 [A/G] NM_024306 FA2H EXON Missense_T200M exm1258680 16 74760207 [T/C] NM_024306 FA2H EXON Missense_V177M exm1258691 16 74761247 [A/C] NM_024306 FA2H EXON Missense_V134G exm1258694 16 74773946 [T/C] NM_024306 FA2H EXON Missense_R113Q exm1258695 16 74773947 [A/G] NM_024306 FA2H EXON Missense_R113W exm1258697 16 74773995 [C/G] NM_024306 FA2H EXON Missense_P97A exm-rs16948255 16 74881820 [T/C] exm1258709 16 74908169 [A/G] NM_030581 WDR59 EXON Missense_R955W exm1258719 16 74908297 [A/G] NM_030581 WDR59 EXON Missense_T912M exm1258721 16 74908315 [T/C] NM_030581 WDR59 EXON Missense_R906Q exm1258722 16 74919552 [A/G] NM_030581 WDR59 EXON Synonymous_I896I exm1258744 16 74920293 [T/C] NM_030581 WDR59 EXON Synonymous_A807A exm1258744-other 16 74920293 [T/C] NM_030581 WDR59 EXON Synonymous_A807A exm-rs2288041 16 74921446 [T/C] NM_030581 WDR59 Silent exm1868237 16 74921593 [A/C] NM_030581 WDR59 EXON Missense_G803C exm1868249 16 74923625 [A/G] NM_030581 WDR59 EXON Missense_F724S exm1258766 16 74923634 [T/C] NM_030581 WDR59 EXON Missense_R721Q exm1258768 16 74923697 [A/G] NM_030581 WDR59 EXON Missense_T700M exm1258778 16 74927701 [A/G] NM_030581 WDR59 EXON Nonsense_R626X exm1258782 16 74937895 [A/G] NM_030581 WDR59 EXON Missense_R606C exm1258786 16 74937942 [T/C] NM_030581 WDR59 EXON Missense_R590H exm1258789 16 74937998 [T/C] NM_030581 WDR59 EXON Synonymous_R571R exm1258804 16 74943471 [T/C] NM_030581 WDR59 EXON Missense_T524A exm1258817 16 74946253 [A/G] NM_030581 WDR59 EXON Missense_A411V exm1258820 16 74949890 [C/G] NM_030581 WDR59 EXON Missense_L368V exm2267953 16 74950469 [A/G] NM_030581 WDR59 Silent exm1258841 16 74955911 [C/G] NM_030581 WDR59 EXON Missense_P274A exm1258846 16 74957867 [T/C] NM_030581 WDR59 EXON Missense_N229S exm1258866 16 74983666 [T/G] NM_030581 WDR59 EXON Missense_D119E exm1258868 16 74983682 [A/G] NM_030581 WDR59 EXON Missense_A114V exm2225345 16 74985377 [T/C] NM_030581 WDR59 EXON Missense_Q102R exm2252731 16 74999712 [T/C] NM_030581 WDR59 EXON Synonymous_A21A exm1258919 16 75146337 [A/C] NM_153486,NM_194436 LDHD,LDHD EXON Missense_G481C,Missense_G458C exm1258922 16 75146373 [T/C] NM_153486,NM_194436 LDHD,LDHD EXON Missense_G469R,Missense_G446R exm1258927 16 75146513 [T/C] NM_153486,NM_194436 LDHD,LDHD EXON Missense_E449K,Missense_E426K exm1258929 16 75146529 [C/G] NM_153486,NM_194436 LDHD,LDHD EXON Missense_R443S,Missense_R420S exm1258943 16 75146816 [A/G] NM_153486,NM_194436 LDHD,LDHD EXON Missense_S388P,Missense_S365P exm1868359 16 75147749 [T/C] NM_153486,NM_194436 LDHD,LDHD EXON Missense_M306I,Missense_M283I exm1258972 16 75148093 [T/C] NM_153486,NM_194436 LDHD,LDHD EXON Nonsense_W223X,Silent exm1258980 16 75148550 [A/G] NM_153486,NM_194436 LDHD,LDHD EXON Missense_A168V,Missense_A168V exm1258994 16 75149166 [T/C] NM_153486,NM_194436 LDHD,LDHD EXON Missense_Y86C,Missense_Y86C exm1259032 16 75203310 [A/G] NM_153688 ZFP1 EXON Missense_Q101R exm1259053 16 75203906 [A/G] NM_153688 ZFP1 EXON Missense_E300K exm1259081 16 75238144 [T/C] NM_001025200 CTRB2 EXON Missense_R236H exm1259116 16 75241024 [C/G] NM_001025200 CTRB2 EXON Missense_L6V exm1259117 16 75241026 [A/C] NM_001025200 CTRB2 EXON Missense_W5L exm-rs7202877 16 75247245 [T/G] exm1259144 16 75258636 [G/C] NM_001906 CTRB1 EXON Missense_D222H exm1259155 16 75263440 [T/C] NM_001170717,NM_001170720,NM_001170719,NM_001170718,NM_001170716,NM_001170714,NM_001170715,NM_014567,NM_001170721 BCAR1,BCAR1,BCAR1,BCAR1,BCAR1,BCAR1,BCAR1,BCAR1,BCAR1 EXON Missense_R879H,Missense_R713H,Missense_R859H,Missense_R861H,Missense_R879H,Missense_R907H,Missense_R879H,Missense_R861H,Missense_R651H exm1259161 16 75263549 [T/C] NM_001170717,NM_001170720,NM_001170719,NM_001170718,NM_001170716,NM_001170714,NM_001170715,NM_014567,NM_001170721 BCAR1,BCAR1,BCAR1,BCAR1,BCAR1,BCAR1,BCAR1,BCAR1,BCAR1 EXON Missense_G843S,Missense_G677S,Missense_G823S,Missense_G825S,Missense_G843S,Missense_G871S,Missense_G843S,Missense_G825S,Missense_G615S exm1259176 16 75263695 [T/C] NM_001170717,NM_001170720,NM_001170719,NM_001170718,NM_001170716,NM_001170714,NM_001170715,NM_014567,NM_001170721 BCAR1,BCAR1,BCAR1,BCAR1,BCAR1,BCAR1,BCAR1,BCAR1,BCAR1 EXON Missense_K794R,Missense_K628R,Missense_K774R,Missense_K776R,Missense_K794R,Missense_K822R,Missense_K794R,Missense_K776R,Missense_K566R exm1259187 16 75263843 [A/G] NM_001170717,NM_001170720,NM_001170719,NM_001170718,NM_001170716,NM_001170714,NM_001170715,NM_014567,NM_001170721 BCAR1,BCAR1,BCAR1,BCAR1,BCAR1,BCAR1,BCAR1,BCAR1,BCAR1 EXON Missense_P745S,Missense_P579S,Missense_P725S,Missense_P727S,Missense_P745S,Missense_P773S,Missense_P745S,Missense_P727S,Missense_P517S exm1259203 16 75268923 [A/G] NM_001170717,NM_001170720,NM_001170719,NM_001170718,NM_001170716,NM_001170714,NM_001170715,NM_014567,NM_001170721 BCAR1,BCAR1,BCAR1,BCAR1,BCAR1,BCAR1,BCAR1,BCAR1,BCAR1 EXON Missense_P643L,Missense_P477L,Missense_P623L,Missense_P625L,Missense_P643L,Missense_P671L,Missense_P643L,Missense_P625L,Missense_P415L exm1259206 16 75268962 [A/G] NM_001170717,NM_001170720,NM_001170719,NM_001170718,NM_001170716,NM_001170714,NM_001170715,NM_014567,NM_001170721 BCAR1,BCAR1,BCAR1,BCAR1,BCAR1,BCAR1,BCAR1,BCAR1,BCAR1 EXON Missense_A630V,Missense_A464V,Missense_A610V,Missense_A612V,Missense_A630V,Missense_A658V,Missense_A630V,Missense_A612V,Missense_A402V exm1259208 16 75268977 [T/C] NM_001170717,NM_001170720,NM_001170719,NM_001170718,NM_001170716,NM_001170714,NM_001170715,NM_014567,NM_001170721 BCAR1,BCAR1,BCAR1,BCAR1,BCAR1,BCAR1,BCAR1,BCAR1,BCAR1 EXON Missense_R625Q,Missense_R459Q,Missense_R605Q,Missense_R607Q,Missense_R625Q,Missense_R653Q,Missense_R625Q,Missense_R607Q,Missense_R397Q exm1259213 16 75269029 [T/C] NM_001170717,NM_001170720,NM_001170719,NM_001170718,NM_001170716,NM_001170714,NM_001170715,NM_014567,NM_001170721 BCAR1,BCAR1,BCAR1,BCAR1,BCAR1,BCAR1,BCAR1,BCAR1,BCAR1 EXON Missense_A608T,Missense_A442T,Missense_A588T,Missense_A590T,Missense_A608T,Missense_A636T,Missense_A608T,Missense_A590T,Missense_A380T exm1259214 16 75269046 [T/C] NM_001170717,NM_001170720,NM_001170719,NM_001170718,NM_001170716,NM_001170714,NM_001170715,NM_014567,NM_001170721 BCAR1,BCAR1,BCAR1,BCAR1,BCAR1,BCAR1,BCAR1,BCAR1,BCAR1 EXON Missense_R602Q,Missense_R436Q,Missense_R582Q,Missense_R584Q,Missense_R602Q,Missense_R630Q,Missense_R602Q,Missense_R584Q,Missense_R374Q exm1259215 16 75269047 [A/G] NM_001170717,NM_001170720,NM_001170719,NM_001170718,NM_001170716,NM_001170714,NM_001170715,NM_014567,NM_001170721 BCAR1,BCAR1,BCAR1,BCAR1,BCAR1,BCAR1,BCAR1,BCAR1,BCAR1 EXON Missense_R602W,Missense_R436W,Missense_R582W,Missense_R584W,Missense_R602W,Missense_R630W,Missense_R602W,Missense_R584W,Missense_R374W exm1259221 16 75269095 [T/C] NM_001170717,NM_001170720,NM_001170719,NM_001170718,NM_001170716,NM_001170714,NM_001170715,NM_014567,NM_001170721 BCAR1,BCAR1,BCAR1,BCAR1,BCAR1,BCAR1,BCAR1,BCAR1,BCAR1 EXON Missense_G586S,Missense_G420S,Missense_G566S,Missense_G568S,Missense_G586S,Missense_G614S,Missense_G586S,Missense_G568S,Missense_G358S exm1868444 16 75269110 [T/C] NM_001170717,NM_001170720,NM_001170719,NM_001170718,NM_001170716,NM_001170714,NM_001170715,NM_014567,NM_001170721 BCAR1,BCAR1,BCAR1,BCAR1,BCAR1,BCAR1,BCAR1,BCAR1,BCAR1 EXON Missense_D581N,Missense_D415N,Missense_D561N,Missense_D563N,Missense_D581N,Missense_D609N,Missense_D581N,Missense_D563N,Missense_D353N exm1259226 16 75269124 [T/C] NM_001170717,NM_001170720,NM_001170719,NM_001170718,NM_001170716,NM_001170714,NM_001170715,NM_014567,NM_001170721 BCAR1,BCAR1,BCAR1,BCAR1,BCAR1,BCAR1,BCAR1,BCAR1,BCAR1 EXON Missense_H576R,Missense_H410R,Missense_H556R,Missense_H558R,Missense_H576R,Missense_H604R,Missense_H576R,Missense_H558R,Missense_H348R exm1259230 16 75269194 [A/G] NM_001170717,NM_001170720,NM_001170719,NM_001170718,NM_001170716,NM_001170714,NM_001170715,NM_014567,NM_001170721 BCAR1,BCAR1,BCAR1,BCAR1,BCAR1,BCAR1,BCAR1,BCAR1,BCAR1 EXON Missense_R553C,Missense_R387C,Missense_R533C,Missense_R535C,Missense_R553C,Missense_R581C,Missense_R553C,Missense_R535C,Missense_R325C exm1259236 16 75269224 [T/C] NM_001170717,NM_001170720,NM_001170719,NM_001170718,NM_001170716,NM_001170714,NM_001170715,NM_014567,NM_001170721 BCAR1,BCAR1,BCAR1,BCAR1,BCAR1,BCAR1,BCAR1,BCAR1,BCAR1 EXON Missense_A543T,Missense_A377T,Missense_A523T,Missense_A525T,Missense_A543T,Missense_A571T,Missense_A543T,Missense_A525T,Missense_A315T exm1868451 16 75269325 [A/C] NM_001170717,NM_001170720,NM_001170719,NM_001170718,NM_001170716,NM_001170714,NM_001170715,NM_014567,NM_001170721 BCAR1,BCAR1,BCAR1,BCAR1,BCAR1,BCAR1,BCAR1,BCAR1,BCAR1 EXON Missense_R509L,Missense_R343L,Missense_R489L,Missense_R491L,Missense_R509L,Missense_R537L,Missense_R509L,Missense_R491L,Missense_R281L exm1259252 16 75269441 [T/G] NM_001170717,NM_001170720,NM_001170719,NM_001170718,NM_001170716,NM_001170714,NM_001170715,NM_014567,NM_001170721 BCAR1,BCAR1,BCAR1,BCAR1,BCAR1,BCAR1,BCAR1,BCAR1,BCAR1 EXON Missense_E470D,Missense_E304D,Missense_E450D,Missense_E452D,Missense_E470D,Missense_E498D,Missense_E470D,Missense_E452D,Missense_E242D exm1259263 16 75269619 [T/C] NM_001170717,NM_001170720,NM_001170719,NM_001170718,NM_001170716,NM_001170714,NM_001170715,NM_014567,NM_001170721 BCAR1,BCAR1,BCAR1,BCAR1,BCAR1,BCAR1,BCAR1,BCAR1,BCAR1 EXON Missense_R411Q,Missense_R245Q,Missense_R391Q,Missense_R393Q,Missense_R411Q,Missense_R439Q,Missense_R411Q,Missense_R393Q,Missense_R183Q exm1259283 16 75269800 [A/G] NM_001170717,NM_001170720,NM_001170719,NM_001170718,NM_001170716,NM_001170714,NM_001170715,NM_014567,NM_001170721 BCAR1,BCAR1,BCAR1,BCAR1,BCAR1,BCAR1,BCAR1,BCAR1,BCAR1 EXON Missense_F351L,Missense_F185L,Missense_F331L,Missense_F333L,Missense_F351L,Missense_F379L,Missense_F351L,Missense_F333L,Missense_F123L exm1259294 16 75270760 [T/C] NM_001170717,NM_001170720,NM_001170719,NM_001170718,NM_001170716,NM_001170714,NM_001170715,NM_014567,NM_001170721 BCAR1,BCAR1,BCAR1,BCAR1,BCAR1,BCAR1,BCAR1,BCAR1,BCAR1 EXON Missense_N311S,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm2225353 16 75270782 [T/C] NM_001170717,NM_001170720,NM_001170719,NM_001170718,NM_001170716,NM_001170714,NM_001170715,NM_014567,NM_001170721 BCAR1,BCAR1,BCAR1,BCAR1,BCAR1,BCAR1,BCAR1,BCAR1,BCAR1 EXON Missense_A304T,Missense_A156T,Missense_A302T,Missense_A304T,Missense_A322T,Missense_A350T,Missense_A322T,Missense_A304T,Missense_A94T exm-rs1862737 16 75281964 [A/C] NM_001170717,NM_001170720,NM_001170719,NM_001170718,NM_001170716,NM_001170714,NM_001170715,NM_014567 BCAR1,BCAR1,BCAR1,BCAR1,BCAR1,BCAR1,BCAR1,BCAR1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm1259361 16 75286131 [A/G] NM_001170720,NM_001170718,NM_001170716,NM_001170714,NM_001170715 BCAR1,BCAR1,BCAR1,BCAR1,BCAR1 Silent,Silent,Silent,Silent,Silent exm1259365 16 75298301 [A/C] NM_001170720,NM_001170718,NM_001170716,NM_001170714,NM_001170715 BCAR1,BCAR1,BCAR1,BCAR1,BCAR1 EXON Silent,Silent,Silent,Missense_C33F,Silent exm1259377 16 75301838 [C/G] NM_001170715 BCAR1 EXON Missense_P14R exm1259390 16 75339006 [T/C] NM_006324 CFDP1 EXON Missense_E242G exm2252733 16 75339032 [A/G] NM_006324 CFDP1 EXON Synonymous_A233A exm-rs2865531 16 75390316 [A/T] NM_006324 CFDP1 Silent exm1259396 16 75428991 [A/G] NM_006324 CFDP1 EXON Missense_S216L exm1259398 16 75429016 [G/C] NM_006324 CFDP1 EXON Missense_A208P exm1259399 16 75429028 [T/C] NM_006324 CFDP1 EXON Missense_N204D exm1259403 16 75429091 [T/C] NM_006324 CFDP1 EXON Missense_D183N exm1259404 16 75429105 [A/T] NM_006324 CFDP1 EXON Missense_V178E exm1259423 16 75448480 [T/C] NM_006324 CFDP1 EXON Missense_A60T exm2274861 16 75448587 [T/C] NM_006324 CFDP1 EXON Missense_E24G exm1259431 16 75467223 [A/G] NM_006324 CFDP1 EXON Missense_S10P exm1259443 16 75485566 [A/C] NM_145254 TMEM170A Silent exm1259446 16 75485625 [T/C] NM_145254 TMEM170A EXON Missense_M82I exm1259447 16 75485638 [T/C] NM_145254 TMEM170A EXON Missense_Y78C exm1259463 16 75498422 [T/G] NM_145254 TMEM170A EXON Missense_P26Q exm1259465 16 75498443 [A/G] NM_145254 TMEM170A EXON Missense_I19T exm1259472 16 75512546 [T/C] NM_021615 CHST6 EXON Missense_R394Q exm1259473 16 75512603 [A/C] NM_021615 CHST6 EXON Missense_V375G exm1868518 16 75512684 [A/C] NM_021615 CHST6 EXON Missense_L348R exm1259481 16 75512721 [T/C] NM_021615 CHST6 EXON Missense_A336T exm1259484 16 75512734 [A/C] NM_021615 CHST6 EXON Missense_Q331H exm1259487 16 75512751 [A/C] NM_021615 CHST6 EXON Missense_A326S exm1259490 16 75512783 [T/C] NM_021615 CHST6 EXON Missense_R315H exm1259501 16 75512936 [A/G] NM_021615 CHST6 EXON Missense_L264P exm2252735 16 75513433 [C/G] NM_021615 CHST6 EXON Synonymous_S98S exm1259550 16 75513717 [G/C] NM_021615 CHST6 EXON Missense_P4A exm1259561 16 75563237 [A/C] NM_024533 CHST5 EXON Missense_R349L exm1259565 16 75563319 [C/G] NM_024533 CHST5 EXON Missense_E322Q exm1259566 16 75563330 [A/G] NM_024533 CHST5 EXON Missense_T318M exm1259568 16 75563352 [T/C] NM_024533 CHST5 EXON Missense_A311T exm1259571 16 75563360 [A/G] NM_024533 CHST5 EXON Missense_A308V exm1259589 16 75563732 [T/C] NM_024533 CHST5 EXON Missense_R184Q exm1259595 16 75563835 [T/C] NM_024533 CHST5 EXON Missense_A150T exm1259600 16 75563961 [C/G] NM_024533 CHST5 EXON Missense_A108P exm1259612 16 75564217 [T/C] NM_024533 CHST5 EXON Missense_M22I exm1259614 16 75564267 [A/G] NM_024533 CHST5 EXON Missense_R6W exm1259618 16 75573915 [A/C] NR_074082,NM_001077416,NR_074083,NM_001077419,NM_001077418 TMEM231,TMEM231,TMEM231,TMEM231,TMEM231 EXON Silent,Missense_L363V,Silent,Missense_L194V,Missense_L310V exm2252736 16 75573943 [A/G] NR_074082,NM_001077416,NR_074083,NM_001077419,NM_001077418 TMEM231,TMEM231,TMEM231,TMEM231,TMEM231 EXON Silent,Synonymous_I353I,Silent,Synonymous_I184I,Synonymous_I300I exm1868546 16 75574051 [T/C] NR_074082,NM_001077416,NR_074083,NM_001077419,NM_001077418 TMEM231,TMEM231,TMEM231,TMEM231,TMEM231 EXON Silent,Synonymous_E317E,Silent,Synonymous_E148E,Synonymous_E264E exm1259627 16 75574052 [T/G] NR_074082,NM_001077416,NR_074083,NM_001077419,NM_001077418 TMEM231,TMEM231,TMEM231,TMEM231,TMEM231 EXON Silent,Missense_E317A,Silent,Missense_E148A,Missense_E264A exm1259632 16 75575299 [T/C] NR_074082,NM_001077416,NR_074083,NM_001077419,NM_001077418 TMEM231,TMEM231,TMEM231,TMEM231,TMEM231 EXON Silent,Missense_D293G,Silent,Missense_D124G,Missense_D240G exm1259635 16 75575308 [G/C] NR_074082,NM_001077416,NR_074083,NM_001077419,NM_001077418 TMEM231,TMEM231,TMEM231,TMEM231,TMEM231 EXON Silent,Missense_R290T,Silent,Missense_R121T,Missense_R237T exm1259636 16 75576539 [T/C] NR_074082,NM_001077416,NR_074083,NM_001077419,NM_001077418 TMEM231,TMEM231,TMEM231,TMEM231,TMEM231 EXON Silent,Missense_D262N,Silent,Missense_D93N,Missense_D209N exm1259640 16 75576580 [A/G] NR_074082,NM_001077416,NR_074083,NM_001077419,NM_001077418 TMEM231,TMEM231,TMEM231,TMEM231,TMEM231 EXON Silent,Missense_I248T,Silent,Missense_I79T,Missense_I195T exm1259661 16 75589886 [A/G] NR_074082,NM_001077416,NR_074083,NM_001077419,NM_001077418 TMEM231,TMEM231,TMEM231,TMEM231,TMEM231 EXON Silent,Missense_A95V,Silent,Silent,Silent exm1259666 16 75589922 [T/G] NR_074082,NM_001077416,NR_074083,NM_001077419,NM_001077418 TMEM231,TMEM231,TMEM231,TMEM231,TMEM231 EXON Silent,Nonsense_S83X,Silent,Silent,Silent exm1259676 16 75590092 [C/G] NR_074082,NM_001077416,NR_074083,NM_001077419,NM_001077418 TMEM231,TMEM231,TMEM231,TMEM231,TMEM231 EXON Silent,Missense_S26R,Silent,Silent,Missense_L6V exm1259692 16 75601983 [T/C] NM_007285 GABARAPL2 EXON Missense_R47W exm-rs8051241 16 75622993 [A/C] exm1259712 16 75634232 [T/C] NR_036460,NM_012091 ADAT1,ADAT1 EXON Silent,Missense_D464G exm1259720 16 75642161 [T/C] NR_036460,NM_012091 ADAT1,ADAT1 EXON Silent,Missense_Q417R exm1259723 16 75642185 [T/G] NR_036460,NM_012091 ADAT1,ADAT1 EXON Silent,Missense_D409A exm1259727 16 75642756 [A/C] NR_036460,NM_012091 ADAT1,ADAT1 EXON Silent,Missense_V392F exm1868596 16 75642789 [C/G] NR_036460,NM_012091 ADAT1,ADAT1 EXON Silent,Missense_Q381E exm1259731 16 75642801 [A/G] NR_036460,NM_012091 ADAT1,ADAT1 EXON Silent,Missense_R377C exm1259740 16 75646270 [T/C] NR_036460,NM_012091 ADAT1,ADAT1 EXON Silent,Missense_R305Q exm1259742 16 75646297 [A/G] NR_036460,NM_012091 ADAT1,ADAT1 EXON Silent,Missense_S296F exm2277104 16 75646301 [A/G] NR_036460,NM_012091 ADAT1,ADAT1 EXON Silent,Missense_R295C exm1259747 16 75646366 [T/A] NR_036460,NM_012091 ADAT1,ADAT1 EXON Silent,Missense_K273M exm1259751 16 75646423 [A/G] NR_036460,NM_012091 ADAT1,ADAT1 EXON Silent,Missense_I254T exm1259753 16 75646442 [A/G] NR_036460,NM_012091 ADAT1,ADAT1 EXON Silent,Missense_P248S exm1259760 16 75646508 [T/C] NR_036460,NM_012091 ADAT1,ADAT1 EXON Silent,Missense_I226V exm1259762 16 75646511 [C/G] NR_036460,NM_012091 ADAT1,ADAT1 EXON Silent,Missense_P225A exm1259765 16 75646553 [T/C] NR_036460,NM_012091 ADAT1,ADAT1 EXON Silent,Missense_G211R exm1259767 16 75646568 [T/C] NR_036460,NM_012091 ADAT1,ADAT1 EXON Silent,Missense_R206G exm1259768 16 75646576 [T/G] NR_036460,NM_012091 ADAT1,ADAT1 EXON Silent,Missense_T203N exm2252737 16 75646587 [A/C] NR_036460,NM_012091 ADAT1,ADAT1 EXON Silent,Synonymous_L199L exm2225364 16 75646683 [C/G] NR_036460,NM_012091 ADAT1,ADAT1 EXON Silent,Missense_H167Q exm1259772 16 75646685 [T/G] NR_036460,NM_012091 ADAT1,ADAT1 EXON Silent,Missense_H167N exm1259785 16 75652509 [T/C] NR_036460,NM_012091 ADAT1,ADAT1 EXON Silent,Missense_V90I exm1259794 16 75654541 [T/C] NR_036460,NM_012091 ADAT1,ADAT1 EXON Silent,Missense_K53E exm1259803 16 75654651 [T/C] NR_036460,NM_012091 ADAT1,ADAT1 EXON Silent,Missense_G16E exm1259804 16 75654652 [T/C] NR_036460,NM_012091 ADAT1,ADAT1 EXON Silent,Missense_G16R exm2225365 16 75657221 [A/C] NR_036460,NM_012091 ADAT1,ADAT1 EXON Silent,Silent exm1259820 16 75663379 [T/C] NM_005548,NM_001130089 KARS,KARS EXON Missense_I495M,Missense_I523M exm1259821 16 75663382 [C/G] NM_005548,NM_001130089 KARS,KARS EXON Missense_E494D,Missense_E522D exm1259822 16 75663416 [G/C] NM_005548,NM_001130089 KARS,KARS EXON Missense_T483S,Missense_T511S exm1259835 16 75665146 [A/G] NM_005548,NM_001130089 KARS,KARS EXON Missense_R420C,Missense_R448C exm1259841 16 75665388 [T/C] NM_005548,NM_001130089 KARS,KARS EXON Missense_R393Q,Missense_R421Q exm1259845 16 75665486 [C/G] NM_005548,NM_001130089 KARS,KARS EXON Synonymous_G360G,Synonymous_G388G exm1259853 16 75668112 [T/C] NM_005548,NM_001130089 KARS,KARS EXON Missense_M292V,Missense_M320V exm1259860 16 75669656 [A/C] NM_005548,NM_001130089 KARS,KARS EXON Missense_F239L,Missense_F267L exm1259867 16 75669878 [A/G] NM_005548,NM_001130089 KARS,KARS EXON Missense_Y201H,Missense_Y229H exm1259869 16 75669880 [A/G] NM_005548,NM_001130089 KARS,KARS EXON Missense_P200L,Missense_P228L exm1259872 16 75669964 [A/T] NM_005548,NM_001130089 KARS,KARS EXON Missense_I172N,Missense_I200N exm1868644 16 75670424 [C/G] NM_005548,NM_001130089 KARS,KARS EXON Missense_A137G,Missense_A165G exm1259887 16 75674161 [G/C] NM_005548,NM_001130089 KARS,KARS EXON Missense_I103M,Missense_I131M exm1259888 16 75674196 [C/G] NM_005548,NM_001130089 KARS,KARS EXON Missense_E92Q,Missense_E120Q exm1259908 16 75681503 [T/C] NM_005548,NM_001130089 KARS,KARS EXON Missense_D12G,Silent exm1259923 16 75681865 [T/A] NM_018975 TERF2IP EXON Missense_M29L exm1259946 16 75690181 [G/C] NM_018975 TERF2IP EXON Nonsense_S291X exm1259951 16 75690279 [A/G] NM_018975 TERF2IP EXON Missense_K324E exm2267954 16 75717930 [A/G] exm-rs1948632 16 75991446 [A/G] exm2272402 16 76013069 [T/C] exm1259969 16 76311574 [T/C] NM_033401 CNTNAP4 EXON Missense_T5M exm1259995 16 76461424 [T/C] NM_033401,NM_138994 CNTNAP4,CNTNAP4 EXON Synonymous_C155C,Missense_R131C exm1259996 16 76461439 [A/G] NM_033401,NM_138994 CNTNAP4,CNTNAP4 EXON Nonsense_W160X,Missense_E136K exm1259998 16 76461474 [T/C] NM_033401,NM_138994 CNTNAP4,CNTNAP4 EXON Missense_S172L,Synonymous_I147I exm1260003 16 76482001 [A/G] NM_033401,NM_138994 CNTNAP4,CNTNAP4 EXON Missense_X210W,Missense_K186E exm1260004 16 76482011 [C/G] NM_033401,NM_138994 CNTNAP4,CNTNAP4 EXON Missense_P214A,Missense_T189S exm1260010 16 76482086 [G/C] NM_033401,NM_138994 CNTNAP4,CNTNAP4 EXON Missense_Q239E,Missense_A214G exm1260012 16 76482700 [A/G] NM_033401,NM_138994 CNTNAP4,CNTNAP4 EXON Missense_I260V,Missense_N235S exm1260016 16 76482747 [G/C] NM_033401,NM_138994 CNTNAP4,CNTNAP4 EXON Missense_C275W,Missense_L251V exm1260024 16 76483674 [T/C] NM_033401,NM_138994 CNTNAP4,CNTNAP4 EXON Missense_M330T,Silent exm1260031 16 76486446 [T/C] NM_033401,NM_138994 CNTNAP4,CNTNAP4 EXON Missense_P371L,Synonymous_P298P exm1260032 16 76486447 [G/C] NM_033401,NM_138994 CNTNAP4,CNTNAP4 EXON Synonymous_P371P,Missense_V299L exm1260033 16 76486450 [A/G] NM_033401,NM_138994 CNTNAP4,CNTNAP4 EXON Missense_X372W,Missense_T300A exm1260036 16 76486472 [T/A] NM_033401,NM_138994 CNTNAP4,CNTNAP4 EXON Missense_I380F,Missense_Y307F exm1260038 16 76486524 [A/G] NM_033401,NM_138994 CNTNAP4,CNTNAP4 EXON Missense_N397S,Synonymous_Q324Q exm1260040 16 76486581 [A/G] NM_033401,NM_138994 CNTNAP4,CNTNAP4 EXON Missense_Q416R,Synonymous_S343S exm2276459 16 76486623 [A/G] NM_033401,NM_138994 CNTNAP4,CNTNAP4 EXON Missense_R430Q,Synonymous_S357S exm1260055 16 76495945 [A/G] NM_033401,NM_138994 CNTNAP4,CNTNAP4 EXON Synonymous_L475L,Missense_A403T exm1260061 16 76501304 [C/G] NM_033401,NM_138994 CNTNAP4,CNTNAP4 EXON Missense_R513T,Missense_Q440H exm1260064 16 76501393 [A/G] NM_033401,NM_138994 CNTNAP4,CNTNAP4 EXON Missense_R543G,Missense_Q470R exm1260065 16 76509851 [T/C] NM_033401,NM_138994 CNTNAP4,CNTNAP4 EXON Missense_I557T,Synonymous_Y484Y exm1260067 16 76509866 [A/G] NM_033401,NM_138994 CNTNAP4,CNTNAP4 EXON Missense_G562E,Synonymous_G489G exm1260071 16 76509912 [A/G] NM_033401,NM_138994 CNTNAP4,CNTNAP4 EXON Synonymous_T577T,Missense_T505A exm1260075 16 76513340 [T/C] NM_033401,NM_138994 CNTNAP4,CNTNAP4 EXON Missense_P596S,Missense_A523V exm1260084 16 76523643 [A/C] NM_033401,NM_138994 CNTNAP4,CNTNAP4 EXON Missense_I648L,Missense_N575T exm1260088 16 76523717 [A/G] NM_033401,NM_138994 CNTNAP4,CNTNAP4 EXON Synonymous_V672V,Missense_A600T exm1260093 16 76523755 [A/G] NM_033401,NM_138994 CNTNAP4,CNTNAP4 EXON Missense_R685K,Synonymous_K612K exm2260591 16 76523792 [A/G] NM_033401,NM_138994 CNTNAP4,CNTNAP4 Silent,Silent exm1260096 16 76528874 [A/G] NM_033401,NM_138994 CNTNAP4,CNTNAP4 EXON Missense_R716H,Synonymous_S643S exm1260101 16 76532465 [A/T] NM_033401,NM_138994 CNTNAP4,CNTNAP4 EXON Synonymous_G746G,Missense_T674S exm1260102 16 76532468 [A/G] NM_033401,NM_138994 CNTNAP4,CNTNAP4 EXON Synonymous_P747P,Missense_N675D exm1260106 16 76532583 [A/G] NM_033401,NM_138994 CNTNAP4,CNTNAP4 EXON Missense_R786G,Missense_Q713R exm1260112 16 76555200 [A/G] NM_033401,NM_138994 CNTNAP4,CNTNAP4 EXON Missense_S843N,Synonymous_E770E exm1260114 16 76555205 [A/G] NM_033401,NM_138994 CNTNAP4,CNTNAP4 EXON Missense_A845T,Missense_R772H exm1260125 16 76569482 [T/C] NM_033401,NM_138994 CNTNAP4,CNTNAP4 EXON Missense_F932S,Synonymous_I859I exm1260127 16 76569512 [A/G] NM_033401,NM_138994 CNTNAP4,CNTNAP4 EXON Nonsense_W942X,Synonymous_L869L exm1260131 16 76569665 [T/G] NM_033401,NM_138994 CNTNAP4,CNTNAP4 EXON Missense_G993V,Synonymous_G920G exm2267909 16 76571199 [A/G] NM_033401,NM_138994 CNTNAP4,CNTNAP4 Silent,Silent exm1260132 16 76572034 [A/C] NM_033401,NM_138994 CNTNAP4,CNTNAP4 EXON Missense_L1006M,Missense_S933Y exm1260135 16 76572099 [A/G] NM_033401,NM_138994 CNTNAP4,CNTNAP4 EXON Synonymous_T1027T,Missense_A955T exm1260145 16 76573746 [A/G] NM_033401,NM_138994 CNTNAP4,CNTNAP4 EXON Missense_X1117W,Missense_I1044M exm1260149 16 76574664 [C/G] NM_033401,NM_138994 CNTNAP4,CNTNAP4 EXON Missense_L1140V,Missense_S1067C exm1260151 16 76587183 [A/G] NM_033401,NM_138994 CNTNAP4,CNTNAP4 EXON Missense_T1149A,Missense_H1076R exm1260152 16 76587202 [T/G] NM_033401,NM_138994 CNTNAP4,CNTNAP4 EXON Missense_I1155R,Missense_D1082E exm1260154 16 76587217 [T/G] NM_033401,NM_138994 CNTNAP4,CNTNAP4 EXON Missense_V1160G,Synonymous_G1087G exm1260155 16 76587220 [A/G] NM_033401,NM_138994 CNTNAP4,CNTNAP4 EXON Missense_R1161H,Synonymous_A1088A exm1260158 16 76587325 [T/C] NM_033401,NM_138994 CNTNAP4,CNTNAP4 EXON Missense_T1196M,Synonymous_H1123H exm1260159 16 76587331 [T/C] NM_033401,NM_138994 CNTNAP4,CNTNAP4 EXON Missense_L1198P,Synonymous_T1125T exm1260160 16 76587334 [A/G] NM_033401,NM_138994 CNTNAP4,CNTNAP4 EXON Missense_S1199N,Synonymous_E1126E exm1260161 16 76587349 [T/C] NM_033401,NM_138994 CNTNAP4,CNTNAP4 EXON Missense_P1204L,Synonymous_A1131A exm1260167 16 76592481 [A/G] NM_033401,NM_138994 CNTNAP4,CNTNAP4 EXON Missense_Q1276R,Synonymous_A1203A exm1260168 16 76592526 [T/C] NM_033401,NM_138994 CNTNAP4,CNTNAP4 EXON Missense_V1291A,Synonymous_S1218S exm1260170 16 76592552 [A/G] NM_033401,NM_138994 CNTNAP4,CNTNAP4 EXON Missense_M1300V,Missense_N1227S exm-rs13330107 16 76878862 [A/G] exm2267910 16 77132938 [A/G] exm1260180 16 77225440 [T/G] NM_014940 MON1B EXON Missense_D20Y exm1260203 16 77227645 [T/C] NM_014940 MON1B EXON Missense_A149V exm1868795 16 77228315 [T/C] NM_014940 MON1B EXON Missense_R187W exm1260212 16 77228435 [A/C] NM_014940 MON1B EXON Missense_R227S exm2252744 16 77228629 [A/G] NM_014940 MON1B EXON Synonymous_R291R exm1260234 16 77228841 [T/C] NM_014940 MON1B EXON Missense_A362V exm1260256 16 77232159 [C/G] NM_014940 MON1B EXON Missense_T533S exm1260267 16 77233370 [G/C] NM_014940,NM_001129979 MON1B,SYCE1L EXON Silent,Missense_L8V exm1260280 16 77245139 [T/C] NM_001129979 SYCE1L EXON Missense_L130P exm1260287 16 77246218 [A/G] NM_001129979 SYCE1L EXON Missense_R178Q exm1260289 16 77246517 [A/C] NM_001129979 SYCE1L EXON Missense_P210T exm1260296 16 77317891 [T/C] NM_199355 ADAMTS18 EXON Missense_G1210R exm1260301 16 77317954 [T/C] NM_199355 ADAMTS18 EXON Missense_V1189I exm-rs12921392 16 77320605 [A/G] NM_199355 ADAMTS18 Silent exm1260308 16 77323211 [A/G] NM_199355 ADAMTS18 EXON Missense_P1167L exm1260310 16 77323235 [C/G] NM_199355 ADAMTS18 EXON Missense_S1159T exm1260312 16 77323247 [T/C] NM_199355 ADAMTS18 EXON Missense_R1155Q exm1260313 16 77323248 [A/G] NM_199355 ADAMTS18 EXON Missense_R1155W exm1260320 16 77325185 [T/C] NM_199355 ADAMTS18 EXON Nonsense_W1127X exm1260322 16 77325207 [A/C] NM_199355 ADAMTS18 EXON Missense_V1120L exm1260326 16 77325276 [A/G] NM_199355 ADAMTS18 EXON Missense_R1097C exm1260329 16 77325303 [T/G] NM_199355 ADAMTS18 EXON Missense_L1088M exm1260332 16 77325325 [T/G] NM_199355 ADAMTS18 EXON Missense_S1080R exm1260334 16 77325343 [G/C] NM_199355 ADAMTS18 EXON Missense_K1074N exm1260340 16 77326983 [A/G] NM_199355 ADAMTS18 EXON Missense_S1060L exm1260341 16 77326990 [T/C] NM_199355 ADAMTS18 EXON Missense_A1058T exm1260344 16 77327005 [A/G] NM_199355 ADAMTS18 EXON Missense_R1053W exm1260346 16 77327022 [C/G] NM_199355 ADAMTS18 EXON Missense_R1047P exm1260352 16 77327122 [A/G] NM_199355 ADAMTS18 EXON Missense_R1014C exm1260355 16 77327136 [T/C] NM_199355 ADAMTS18 EXON Missense_R1009Q exm1260356 16 77327156 [G/C] NM_199355 ADAMTS18 Silent exm1260359 16 77328872 [G/C] NM_199355 ADAMTS18 EXON Missense_A985G exm1868851 16 77328918 [T/C] NM_199355 ADAMTS18 EXON Missense_V970M exm1260365 16 77328958 [G/C] NM_199355 ADAMTS18 EXON Missense_I956M exm1260367 16 77328990 [A/C] NM_199355 ADAMTS18 EXON Missense_A946S exm2260592 16 77331028 [T/C] NM_199355 ADAMTS18 Silent exm1260372 16 77331235 [T/C] NM_199355 ADAMTS18 EXON Missense_K918E exm1260375 16 77331247 [T/G] NM_199355 ADAMTS18 EXON Missense_S914R exm1260383 16 77334215 [T/G] NM_199355 ADAMTS18 EXON Missense_R873S exm1868857 16 77334293 [A/C] NM_199355 ADAMTS18 EXON Missense_M847I exm1260392 16 77353778 [A/G] NM_199355 ADAMTS18 EXON Missense_P834S exm1260397 16 77353790 [A/G] NM_199355 ADAMTS18 EXON Missense_R830C exm1868860 16 77353798 [A/C] NM_199355 ADAMTS18 EXON Missense_R827L exm1260400 16 77353801 [T/C] NM_199355 ADAMTS18 EXON Missense_N826S exm1260401 16 77353802 [T/G] NM_199355 ADAMTS18 EXON Missense_N826H exm1260409 16 77353973 [T/G] NM_199355 ADAMTS18 EXON Missense_L769I exm1260411 16 77355045 [T/C] NM_199355 ADAMTS18 EXON Missense_V740I exm1260427 16 77359816 [T/C] NM_199355 ADAMTS18 EXON Missense_S660N exm1260429 16 77359879 [T/C] NM_199355 ADAMTS18 EXON Missense_N639S exm1260431 16 77359898 [A/G] NM_199355 ADAMTS18 EXON Missense_R633C exm1260433 16 77359919 [A/T] NM_199355 ADAMTS18 EXON Missense_L626I exm1260438 16 77369732 [T/C] NM_199355 ADAMTS18 EXON Missense_A594T exm1260448 16 77375665 [A/G] NM_199355 ADAMTS18 EXON Missense_V549A exm1260461 16 77387736 [T/C] NM_199355 ADAMTS18 EXON Missense_Q503R exm2274862 16 77387739 [T/C] NM_199355 ADAMTS18 EXON Missense_G502E exm1260464 16 77387748 [T/C] NM_199355 ADAMTS18 EXON Missense_K499R exm1260480 16 77396007 [A/G] NM_199355 ADAMTS18 EXON Missense_T404I exm1260482 16 77396044 [A/C] NM_199355 ADAMTS18 EXON Missense_F392V exm1868893 16 77396145 [T/G] NM_199355 ADAMTS18 EXON Missense_N358T exm1260493 16 77398263 [A/G] NM_199355 ADAMTS18 EXON Missense_P265L exm1260500 16 77401379 [T/C] NM_199355 ADAMTS18 EXON Missense_R246Q exm1260504 16 77401425 [A/G] NM_199355 ADAMTS18 EXON Missense_H231Y exm1260509 16 77401463 [G/C] NM_199355 ADAMTS18 EXON Missense_P218R exm1260511 16 77401479 [A/G] NM_199355 ADAMTS18 EXON Missense_R213W exm1260513 16 77401515 [T/C] NM_199355 ADAMTS18 EXON Missense_V201I exm1260515 16 77401532 [A/G] NM_199355 ADAMTS18 EXON Missense_A195V exm1260517 16 77401545 [A/G] NM_199355 ADAMTS18 EXON Missense_Y191H exm1260520 16 77401554 [T/C] NM_199355 ADAMTS18 EXON Missense_E188K exm1260522 16 77401599 [T/C] NM_199355 ADAMTS18 EXON Missense_K173E exm-rs11864477 16 77427769 [T/C] NM_199355 ADAMTS18 Silent exm1260527 16 77465249 [G/C] NM_199355 ADAMTS18 EXON Missense_Q146H exm1260529 16 77465301 [T/C] NM_199355 ADAMTS18 EXON Missense_K129R exm1260532 16 77465347 [T/G] NM_199355 ADAMTS18 EXON Missense_P114T exm1868927 16 77465350 [T/G] NM_199355 ADAMTS18 EXON Missense_K113Q exm1260542 16 77465503 [T/C] NM_199355 ADAMTS18 EXON Missense_V62I exm1260544 16 77468360 [T/C] NM_199355 ADAMTS18 EXON Missense_A45T exm2252745 16 77545082 [T/G] exm1260553 16 77756501 [T/G] NM_001105663,NM_001243657,NM_001243660,NM_001243661 NUDT7,NUDT7,NUDT7,NUDT7 EXON Nonsense_E8X,Nonsense_E8X,Nonsense_E8X,Nonsense_E8X exm1260554 16 77756502 [T/A] NM_001105663,NM_001243657,NM_001243660,NM_001243661 NUDT7,NUDT7,NUDT7,NUDT7 EXON Missense_E8V,Missense_E8V,Missense_E8V,Missense_E8V exm1868975 16 77759357 [A/G] NM_001105663,NM_001243657,NM_001243660,NM_001243661 NUDT7,NUDT7,NUDT7,NUDT7 EXON Missense_R22H,Missense_R22H,Missense_R22H,Missense_R22H exm1260558 16 77759403 [A/T] NM_001105663,NM_001243657,NM_001243660,NM_001243661 NUDT7,NUDT7,NUDT7,NUDT7 EXON Nonsense_Y37X,Nonsense_Y37X,Nonsense_Y37X,Nonsense_Y37X exm1260570 16 77769815 [T/C] NM_001105663,NM_001243657,NM_001243660,NM_001243661 NUDT7,NUDT7,NUDT7,NUDT7 EXON Nonsense_Q94X,Nonsense_Q94X,Silent,Silent exm1260571 16 77769821 [A/G] NM_001105663,NM_001243657,NM_001243660,NM_001243661 NUDT7,NUDT7,NUDT7,NUDT7 EXON Missense_E96K,Missense_E96K,Silent,Silent exm1260572 16 77769833 [T/C] NM_001105663,NM_001243657,NM_001243660,NM_001243661 NUDT7,NUDT7,NUDT7,NUDT7 EXON Missense_R100C,Missense_R100C,Silent,Silent exm1260573 16 77769834 [A/G] NM_001105663,NM_001243657,NM_001243660,NM_001243661 NUDT7,NUDT7,NUDT7,NUDT7 EXON Missense_R100H,Missense_R100H,Silent,Silent exm1260574 16 77769881 [C/G] NM_001105663,NM_001243657,NM_001243660,NM_001243661 NUDT7,NUDT7,NUDT7,NUDT7 EXON Missense_D116H,Missense_D116H,Silent,Silent exm1260577 16 77775497 [T/C] NM_001105663,NM_001243657,NM_001243660,NM_001243661 NUDT7,NUDT7,NUDT7,NUDT7 EXON Missense_P123S,Missense_S154F,Missense_P108S,Missense_P70S exm1260583 16 77775617 [A/G] NM_001105663,NM_001243657,NM_001243660,NM_001243661 NUDT7,NUDT7,NUDT7,NUDT7 EXON Missense_V163I,Silent,Missense_V148I,Missense_V110I exm1260585 16 77775672 [A/G] NM_001105663,NM_001243657,NM_001243660,NM_001243661 NUDT7,NUDT7,NUDT7,NUDT7 EXON Missense_E181G,Silent,Missense_E166G,Missense_E128G exm1260591 16 77775744 [A/G] NM_001105663,NM_001243657,NM_001243660,NM_001243661 NUDT7,NUDT7,NUDT7,NUDT7 EXON Missense_E205G,Silent,Missense_E190G,Missense_E152G exm1260592 16 77775750 [A/T] NM_001105663,NM_001243657,NM_001243660,NM_001243661 NUDT7,NUDT7,NUDT7,NUDT7 EXON Missense_K207I,Silent,Missense_K192I,Missense_K154I exm2252746 16 77775778 [T/C] NM_001105663,NM_001243657,NM_001243660,NM_001243661 NUDT7,NUDT7,NUDT7,NUDT7 EXON Synonymous_L216L,Silent,Synonymous_L201L,Synonymous_L163L exm1260594 16 77775788 [T/G] NM_001105663,NM_001243657,NM_001243660,NM_001243661 NUDT7,NUDT7,NUDT7,NUDT7 EXON Missense_L220V,Silent,Missense_L205V,Missense_L167V exm1260600 16 77822722 [T/C] NM_020927 VAT1L EXON Missense_A48V exm1868995 16 77822740 [A/G] NM_020927 VAT1L EXON Missense_N54S exm1260604 16 77822803 [T/C] NM_020927 VAT1L EXON Missense_V75A exm1260607 16 77850841 [A/T] NM_020927 VAT1L EXON Missense_M86K exm1869004 16 77859149 [A/G] NM_020927 VAT1L EXON Missense_D124N exm1260619 16 77859153 [A/G] NM_020927 VAT1L EXON Missense_R125H exm1260629 16 77859358 [A/G] NM_020927 VAT1L EXON Synonymous_V193V exm1260630 16 77859359 [A/G] NM_020927 VAT1L Silent exm1260633 16 77896682 [A/G] NM_020927 VAT1L EXON Missense_N206S exm1260638 16 77896751 [T/C] NM_020927 VAT1L EXON Missense_F229S exm1260652 16 77918515 [T/G] NM_020927 VAT1L EXON Missense_V298G exm1260654 16 77918602 [A/G] NM_020927 VAT1L EXON Missense_R327Q exm1260655 16 77918617 [A/G] NM_020927 VAT1L EXON Missense_R332Q exm2267911 16 77940068 [A/G] NM_020927 VAT1L Silent exm1260676 16 78056542 [G/C] NM_005752 CLEC3A EXON Missense_V16L exm1260678 16 78056601 [A/C] NM_005752 CLEC3A EXON Missense_R35S exm1260687 16 78062029 [T/A] NM_005752 CLEC3A EXON Missense_Q56H exm1260690 16 78062044 [G/C] NM_005752 CLEC3A EXON Missense_W61C exm1260694 16 78062086 [A/G] NM_005752 CLEC3A EXON Synonymous_T75T exm1260705 16 78064533 [T/C] NM_005752,NM_001244755 CLEC3A,CLEC3A EXON Missense_L139P,Missense_L78P exm1260706 16 78064542 [A/G] NM_005752,NM_001244755 CLEC3A,CLEC3A EXON Missense_N142S,Missense_N81S exm1260707 16 78064551 [T/C] NM_005752,NM_001244755 CLEC3A,CLEC3A EXON Missense_V145A,Missense_V84A exm1869087 16 78064587 [G/C] NM_005752,NM_001244755 CLEC3A,CLEC3A EXON Missense_A157G,Missense_A96G exm1260715 16 78064733 [A/C] NM_005752,NM_001244755 CLEC3A,CLEC3A EXON Missense_Q206K,Missense_Q145K exm1260737 16 78148935 [T/C] NM_130791,NM_016373 WWOX,WWOX EXON Missense_P98L,Missense_P98L exm1260742 16 78148974 [C/G] NM_130791,NM_016373 WWOX,WWOX EXON Missense_T111S,Missense_T111S exm1260745 16 78149000 [T/C] NM_130791,NM_016373 WWOX,WWOX EXON Missense_R120W,Missense_R120W exm1260749 16 78149048 [A/G] NM_130791,NM_016373 WWOX,WWOX EXON Missense_I136V,Missense_I136V exm1260755 16 78198138 [T/G] NM_130791,NM_016373 WWOX,WWOX EXON Missense_R156S,Missense_R156S exm1260757 16 78198169 [T/C] NM_130791,NM_016373 WWOX,WWOX EXON Missense_R167C,Missense_R167C exm-rs2059238 16 78258810 [A/C] NM_130791,NM_016373 WWOX,WWOX Silent,Silent exm1260767 16 78312527 [A/G] NM_130791,NM_016373 WWOX,WWOX EXON Missense_K182E,Silent exm1260770 16 78312552 [A/C] NM_130791,NM_016373 WWOX,WWOX EXON Missense_X190S,Silent exm2252748 16 78343690 [A/G] NM_016373 WWOX Silent exm1260773 16 78420775 [A/G] NM_016373 WWOX EXON Missense_A179T exm1260774 16 78420787 [A/G] NM_016373 WWOX EXON Missense_D183N exm2276462 16 78420802 [A/C] NM_016373 WWOX EXON Missense_R188S exm1260779 16 78420831 [C/G] NM_016373 WWOX EXON Missense_F197L exm1260783 16 78458774 [A/C] NM_016373 WWOX EXON Missense_H205N exm1260785 16 78458796 [T/C] NM_016373 WWOX EXON Missense_A212V exm1260788 16 78458807 [G/C] NM_016373 WWOX EXON Missense_L216V exm1260791 16 78458874 [A/G] NM_016373 WWOX EXON Missense_Y238C exm1260793 16 78458915 [C/G] NM_016373 WWOX EXON Missense_P252A exm1260798 16 78466409 [T/G] NM_016373 WWOX EXON Missense_L272F exm1260799 16 78466428 [T/C] NM_016373 WWOX EXON Missense_R279C exm1260800 16 78466437 [C/G] NM_016373 WWOX EXON Missense_P282A exm1260812 16 78466521 [T/C] NM_016373 WWOX EXON Missense_R310C exm1260813 16 78466528 [A/C] NM_016373 WWOX EXON Missense_S312Y exm1260814 16 78466534 [A/G] NM_016373 WWOX EXON Missense_R314H exm1260816 16 78466539 [G/C] NM_016373 WWOX EXON Missense_V316L exm1260821 16 78466583 [G/C] NM_016373 WWOX EXON Missense_N330K exm1260825 16 78466614 [A/C] NM_016373 WWOX EXON Missense_L341M exm1260827 16 78466632 [A/C] NM_016373 WWOX EXON Missense_P347T exm-rs17706989 16 78569957 [G/C] NM_016373 WWOX Silent exm-rs2859631 16 78631794 [A/G] NM_016373 WWOX Silent exm2264603 16 78821717 [A/C] NM_016373 WWOX Silent exm-rs9923451 16 78952439 [A/G] NM_016373 WWOX Silent exm2267957 16 79131780 [A/G] NM_016373 WWOX Silent exm2252751 16 79146925 [T/C] NM_016373 WWOX Silent exm1260836 16 79245589 [T/C] NM_016373 WWOX EXON Missense_R381C exm1260837 16 79245590 [A/G] NM_016373 WWOX EXON Missense_R381H exm1260841 16 79245626 [T/C] NM_016373 WWOX EXON Missense_T393M exm1260844 16 79245644 [T/C] NM_016373 WWOX EXON Missense_A399V exm1260851 16 79245686 [A/C] NM_016373 WWOX EXON Missense_S413Y exm1260853 16 79245688 [A/G] NM_016373 WWOX EXON Missense_G414S exm2273538 16 79245820 [T/G] NM_016373 WWOX EXON Silent exm-IND16-77803393 16 79245893 [D/I] NM_016373 WWOX EXON exm-rs7498403 16 79585021 [T/C] exm2276463 16 79632939 [A/G] NM_005360,NM_001031804 MAF,MAF EXON Synonymous_I287I,Synonymous_I287I exm1260887 16 79633492 [T/G] NM_005360,NM_001031804 MAF,MAF EXON Missense_P103H,Missense_P103H exm1260902 16 79633779 [T/C] NM_005360,NM_001031804 MAF,MAF EXON Missense_M7I,Missense_M7I exm-rs1424233 16 79682751 [T/C] exm-rs17767419 16 79744548 [T/C] exm-rs3813579 16 79749276 [A/G] exm2272453 16 79847273 [T/C] exm2252753 16 80071458 [A/G] exm-rs12917698 16 80335572 [T/C] exm1260912 16 80577179 [A/G] NM_130897 DYNLRB2 EXON Missense_V4M exm1260913 16 80577210 [A/G] NM_130897 DYNLRB2 EXON Missense_H14R exm1260916 16 80577248 [T/G] NM_130897 DYNLRB2 EXON Missense_G27C exm1260917 16 80583386 [T/C] NM_130897 DYNLRB2 EXON Missense_P29S exm1260928 16 80584435 [A/C] NM_130897 DYNLRB2 EXON Missense_I91L exm-rs1452501 16 80623262 [T/C] exm1260941 16 80641994 [T/C] NM_152342 CDYL2 EXON Missense_A453T exm1260970 16 80654706 [T/A] NM_152342 CDYL2 EXON Missense_S321T exm1260976 16 80654778 [G/C] NM_152342 CDYL2 EXON Missense_L297V exm2267958 16 80660388 [A/G] NM_152342 CDYL2 Silent exm1260997 16 80667017 [T/C] NM_152342 CDYL2 EXON Missense_S245G exm1261001 16 80667059 [T/C] NM_152342 CDYL2 EXON Missense_V231I exm1261009 16 80667131 [A/G] NM_152342 CDYL2 EXON Missense_S207P exm2267914 16 80696071 [A/G] NM_152342 CDYL2 Silent exm1261015 16 80718468 [T/C] NM_152342 CDYL2 EXON Missense_V195M exm1261018 16 80718483 [T/C] NM_152342 CDYL2 EXON Missense_M190V exm1261023 16 80718567 [T/C] NM_152342 CDYL2 EXON Missense_G162S exm1261034 16 80718728 [T/C] NM_152342 CDYL2 EXON Missense_R108Q exm1261037 16 80718797 [A/G] NM_152342 CDYL2 EXON Missense_S85L exm2252756 16 80718879 [A/G] NM_152342 CDYL2 EXON Synonymous_L58L exm1261041 16 80718881 [A/C] NM_152342 CDYL2 EXON Missense_G57V exm2267915 16 80964406 [A/G] exm1261061 16 81010073 [T/C] NM_020188 CMC2 EXON Missense_V53I exm1869279 16 81015430 [T/C] NM_020188 CMC2 EXON Missense_R45K exm1261066 16 81030968 [C/G] NM_020188 CMC2 EXON Missense_T11S exm1261070 16 81030993 [A/G] NM_020188 CMC2 EXON Missense_P3S exm1261073 16 81045614 [A/G] NM_001100624,NM_001270474,NM_001100625,NM_001270473,NM_018455 CENPN,CENPN,CENPN,CENPN,CENPN EXON Missense_I24V,Missense_I24V,Missense_I24V,Missense_I24V,Missense_I24V exm2277105 16 81045649 [A/C] NM_001100624,NM_001270474,NM_001100625,NM_001270473,NM_018455 CENPN,CENPN,CENPN,CENPN,CENPN EXON Missense_Q35H,Missense_Q35H,Missense_Q35H,Missense_Q35H,Missense_Q35H exm1261078 16 81045669 [A/G] NM_001100624,NM_001270474,NM_001100625,NM_001270473,NM_018455 CENPN,CENPN,CENPN,CENPN,CENPN EXON Missense_R42Q,Missense_R42Q,Missense_R42Q,Missense_R42Q,Missense_R42Q exm1261084 16 81047748 [A/G] NM_001100624,NM_001270474,NM_001100625,NM_001270473,NM_018455 CENPN,CENPN,CENPN,CENPN,CENPN EXON Missense_R60H,Missense_R60H,Missense_R60H,Missense_R60H,Missense_R60H exm1261087 16 81050965 [A/T] NM_001100624,NM_001270474,NM_001100625,NM_001270473,NM_018455 CENPN,CENPN,CENPN,CENPN,CENPN EXON Missense_E84D,Missense_E84D,Missense_E84D,Silent,Missense_E84D exm1261088 16 81050966 [A/G] NM_001100624,NM_001270474,NM_001100625,NM_001270473,NM_018455 CENPN,CENPN,CENPN,CENPN,CENPN EXON Missense_V85I,Missense_V85I,Missense_V85I,Silent,Missense_V85I exm1261101 16 81053838 [T/C] NM_001100624,NM_001270474,NM_001100625,NM_001270473,NM_018455 CENPN,CENPN,CENPN,CENPN,CENPN EXON Missense_T163M,Missense_T163M,Missense_T163M,Missense_T143M,Missense_T163M exm1261106 16 81056257 [A/G] NM_001100624,NM_001270474,NM_001100625,NM_001270473,NM_018455 CENPN,CENPN,CENPN,CENPN,CENPN EXON Missense_R196Q,Silent,Missense_R196Q,Missense_R176Q,Silent exm1261109 16 81056370 [G/C] NM_001100624,NM_001270474,NM_001100625,NM_001270473,NM_018455 CENPN,CENPN,CENPN,CENPN,CENPN EXON Silent,Silent,Silent,Silent,Missense_A181G exm1869299 16 81056395 [A/C] NM_001100624,NM_001270474,NM_001100625,NM_001270473,NM_018455 CENPN,CENPN,CENPN,CENPN,CENPN EXON Silent,Silent,Silent,Silent,Missense_Q189H exm1261111 16 81056441 [T/G] NM_001100624,NM_001270474,NM_001100625,NM_001270473,NM_018455 CENPN,CENPN,CENPN,CENPN,CENPN EXON Silent,Silent,Silent,Silent,Missense_X205E exm1261112 16 81056442 [A/G] NM_001100624,NM_001270474,NM_001100625,NM_001270473,NM_018455 CENPN,CENPN,CENPN,CENPN,CENPN EXON Silent,Silent,Silent,Silent,Missense_X205W exm1261117 16 81058354 [A/G] NM_001100624,NM_001270474,NM_001100625,NM_001270473 CENPN,CENPN,CENPN,CENPN EXON Missense_Q223R,Missense_Q189R,Missense_Q223R,Missense_Q203R exm1261125 16 81060160 [A/G] NM_001100624,NM_001270474,NM_001100625,NM_001270473 CENPN,CENPN,CENPN,CENPN EXON Missense_V243I,Missense_V209I,Missense_V243I,Missense_V223I exm1869308 16 81061776 [T/C] NM_001100624,NM_001270474,NM_001100625,NM_001270473 CENPN,CENPN,CENPN,CENPN EXON Missense_L271F,Missense_L237F,Missense_L271F,Missense_L251F exm1261130 16 81061827 [A/G] NM_001100624,NM_001270474,NM_001100625,NM_001270473 CENPN,CENPN,CENPN,CENPN EXON Missense_E288K,Missense_E254K,Missense_E288K,Missense_E268K exm1261142 16 81066224 [T/A] NM_001100625 CENPN EXON Missense_S329R exm1261160 16 81075056 [A/C] NM_015251 ATMIN EXON Missense_R144S exm1261176 16 81076066 [A/G] NM_015251 ATMIN EXON Missense_E215K exm1261179 16 81076821 [T/C] NM_015251 ATMIN EXON Missense_S240P exm1261182 16 81076833 [A/G] NM_015251 ATMIN EXON Missense_I244V exm1261187 16 81076959 [A/C] NM_015251 ATMIN EXON Missense_T286P exm1261192 16 81077016 [A/G] NM_015251 ATMIN EXON Missense_K305E exm1261200 16 81077226 [A/C] NM_015251 ATMIN EXON Missense_I375L exm1261203 16 81077272 [A/G] NM_015251 ATMIN EXON Missense_K390R exm1261204 16 81077308 [T/C] NM_015251 ATMIN EXON Missense_T402M exm1869332 16 81077664 [A/G] NM_015251 ATMIN EXON Missense_V521I exm1261220 16 81077674 [T/C] NM_015251 ATMIN EXON Missense_S524L exm1261235 16 81077902 [G/C] NM_015251 ATMIN EXON Missense_S600T exm1261243 16 81078081 [A/G] NM_015251 ATMIN EXON Missense_T660A exm1261258 16 81078360 [A/G] NM_015251 ATMIN EXON Missense_A753T exm1261263 16 81078492 [C/G] NM_015251 ATMIN EXON Missense_L797V exm1261270 16 81087679 [G/C] NM_001100873 C16orf46 EXON Missense_K388N exm1261278 16 81094792 [A/G] NM_001100873,NM_152337 C16orf46,C16orf46 EXON Silent,Missense_P388S exm1261283 16 81094885 [T/C] NM_001100873,NM_152337 C16orf46,C16orf46 EXON Missense_K357E,Missense_K357E exm1261286 16 81094951 [A/G] NM_001100873,NM_152337 C16orf46,C16orf46 EXON Missense_Y335H,Missense_Y335H exm1261288 16 81094966 [A/G] NM_001100873,NM_152337 C16orf46,C16orf46 EXON Missense_R330W,Missense_R330W exm1261296 16 81095077 [T/C] NM_001100873,NM_152337 C16orf46,C16orf46 EXON Missense_D293N,Missense_D293N exm1261299 16 81095091 [A/G] NM_001100873,NM_152337 C16orf46,C16orf46 EXON Missense_I288T,Missense_I288T exm1261301 16 81095100 [A/G] NM_001100873,NM_152337 C16orf46,C16orf46 EXON Missense_A285V,Missense_A285V exm1261314 16 81095316 [A/G] NM_001100873,NM_152337 C16orf46,C16orf46 EXON Missense_P213L,Missense_P213L exm1261318 16 81095388 [A/G] NM_001100873,NM_152337 C16orf46,C16orf46 EXON Missense_P189L,Missense_P189L exm1261321 16 81095438 [C/G] NM_001100873,NM_152337 C16orf46,C16orf46 EXON Missense_N172K,Missense_N172K exm1261324 16 81095485 [A/G] NM_001100873,NM_152337 C16orf46,C16orf46 EXON Nonsense_R157X,Nonsense_R157X exm1261330 16 81095628 [A/G] NM_001100873,NM_152337 C16orf46,C16orf46 EXON Missense_S109F,Missense_S109F exm1261331 16 81095653 [C/G] NM_001100873,NM_152337 C16orf46,C16orf46 EXON Missense_D101H,Missense_D101H exm1261334 16 81095704 [A/G] NM_001100873,NM_152337 C16orf46,C16orf46 EXON Missense_W84R,Missense_W84R exm1261336 16 81095716 [A/C] NM_001100873,NM_152337 C16orf46,C16orf46 EXON Missense_A80S,Missense_A80S exm1261340 16 81097356 [G/C] NM_001100873,NM_152337 C16orf46,C16orf46 EXON Missense_E69Q,Missense_E69Q exm1261341 16 81097362 [A/G] NM_001100873,NM_152337 C16orf46,C16orf46 EXON Missense_W67R,Missense_W67R exm1261342 16 81097373 [A/G] NM_001100873,NM_152337 C16orf46,C16orf46 EXON Missense_I63T,Missense_I63T exm1261343 16 81097425 [T/C] NM_001100873,NM_152337 C16orf46,C16orf46 EXON Missense_D46N,Missense_D46N exm1261360 16 81121246 [A/G] NM_004483,NR_033249 GCSH,GCSH EXON Synonymous_Y84Y,Silent exm1261362 16 81124216 [T/C] NM_004483,NR_033249 GCSH,GCSH EXON Missense_N73S,Silent exm1261380 16 81134859 [C/G] NM_052892 PKD1L2 EXON Missense_C2416W exm1261381 16 81134860 [G/C] NM_052892 PKD1L2 EXON Missense_C2416S exm1261382 16 81134884 [T/C] NM_052892 PKD1L2 EXON Missense_R2408Q exm1261383 16 81134885 [A/G] NM_052892 PKD1L2 EXON Missense_R2408W exm1261391 16 81142257 [T/C] NM_052892 PKD1L2 EXON Missense_D2376G exm1261394 16 81142834 [A/C] NM_052892 PKD1L2 EXON Missense_W2350C exm1261395 16 81142839 [A/G] NM_052892 PKD1L2 EXON Nonsense_R2349X exm1261396 16 81142845 [A/G] NM_052892 PKD1L2 EXON Missense_R2347W exm1261397 16 81142872 [T/C] NM_052892 PKD1L2 EXON Missense_V2338I exm1261399 16 81142887 [T/A] NM_052892 PKD1L2 EXON Missense_L2333M exm1261404 16 81145769 [A/G] NM_052892 PKD1L2 EXON Missense_R2328C exm1261405 16 81145783 [G/C] NM_052892 PKD1L2 EXON Missense_W2323S exm1261406 16 81145790 [A/G] NM_052892 PKD1L2 EXON Missense_C2321R exm1261408 16 81145807 [G/C] NM_052892 PKD1L2 EXON Missense_X2315S exm1261409 16 81145835 [T/C] NM_052892 PKD1L2 EXON Missense_V2306M exm1261414 16 81145942 [A/G] NM_052892 PKD1L2 EXON Missense_P2270L exm1261418 16 81145976 [T/C] NM_052892 PKD1L2 EXON Missense_A2259T exm1261419 16 81151009 [G/C] NM_052892 PKD1L2 EXON Missense_G2247R exm1261428 16 81151129 [T/C] NM_052892 PKD1L2 EXON Missense_A2207T exm1261432 16 81155231 [A/G] NM_052892 PKD1L2 EXON Missense_S2191P exm1261433 16 81155269 [A/G] NM_052892 PKD1L2 EXON Missense_S2178L exm1261436 16 81155305 [T/C] NM_052892 PKD1L2 EXON Missense_R2166H exm1261446 16 81157311 [A/G] NM_052892 PKD1L2 EXON Missense_T2143M exm1261447 16 81157321 [C/G] NM_052892 PKD1L2 EXON Missense_L2140V exm1261448 16 81157324 [A/G] NM_052892 PKD1L2 EXON Missense_P2139S exm1261451 16 81157353 [A/G] NM_052892 PKD1L2 EXON Missense_T2129M exm1261455 16 81157385 [T/G] NM_052892 PKD1L2 EXON Missense_F2118L exm1261457 16 81161391 [T/C] NM_052892 PKD1L2 EXON Nonsense_W2108X exm1261476 16 81161551 [A/G] NM_052892 PKD1L2 EXON Missense_A2055V exm1261477 16 81161552 [T/C] NM_052892 PKD1L2 EXON Missense_A2055T exm1261482 16 81161569 [T/G] NM_052892 PKD1L2 EXON Missense_Y2049S exm1261487 16 81161608 [T/C] NM_052892 PKD1L2 EXON Missense_Q2036R exm1261488 16 81161635 [A/C] NM_052892 PKD1L2 EXON Missense_S2027I exm1261491 16 81164062 [A/T] NM_052892 PKD1L2 Silent exm1261500 16 81164190 [T/C] NM_052892 PKD1L2 EXON Missense_A1973T exm1261504 16 81167213 [A/G] NM_052892 PKD1L2 EXON Missense_H1938Y exm1261506 16 81167233 [A/G] NM_052892 PKD1L2 EXON Missense_I1931T exm1261507 16 81167269 [T/C] NM_052892 PKD1L2 EXON Missense_S1919N exm1261513 16 81171069 [A/G] NM_052892 PKD1L2 EXON Missense_P1898S exm1261514 16 81171090 [T/C] NM_052892 PKD1L2 EXON Missense_D1891N exm1261521 16 81173136 [T/C] NM_052892 PKD1L2 EXON Missense_M1867V exm1261522 16 81173146 [G/C] NM_052892 PKD1L2 EXON Missense_F1863L exm1261524 16 81173170 [T/C] NM_052892 PKD1L2 EXON Nonsense_W1855X exm1261526 16 81173193 [T/C] NM_052892 PKD1L2 EXON Missense_G1848R exm1261542 16 81174958 [A/C] NM_052892 PKD1L2 EXON Missense_Q1787H exm1261546 16 81174992 [T/G] NM_052892 PKD1L2 EXON Missense_P1776H exm1261547 16 81174999 [A/G] NM_052892 PKD1L2 EXON Missense_S1774P exm2225402 16 81175008 [A/G] NM_052892 PKD1L2 EXON Nonsense_R1771X exm1261554 16 81175103 [A/G] NM_052892 PKD1L2 EXON Missense_A1739V exm1261559 16 81180988 [C/G] NM_052892 PKD1L2 EXON Missense_Q1701H exm1261560 16 81180995 [T/C] NM_052892 PKD1L2 EXON Missense_Y1699C exm1261564 16 81181070 [G/C] NM_052892 PKD1L2 EXON Missense_S1674C exm1261567 16 81181097 [T/G] NM_052892 PKD1L2 EXON Missense_S1665Y exm1261571 16 81181120 [G/C] NM_052892 PKD1L2 Silent exm1261573 16 81181753 [C/G] NM_052892 PKD1L2 EXON Missense_V1655L exm1261574 16 81181783 [T/C] NM_052892 PKD1L2 EXON Missense_M1645V exm1261579 16 81181821 [T/C] NM_052892 PKD1L2 EXON Missense_D1632G exm1261592 16 81183382 [A/C] NM_052892 PKD1L2 EXON Missense_C1556G exm1261597 16 81183421 [T/C] NM_052892 PKD1L2 EXON Missense_A1543T exm1261604 16 81183468 [A/G] NM_052892 PKD1L2 EXON Missense_A1527V exm1261606 16 81183492 [T/G] NM_052892 PKD1L2 EXON Missense_H1519P exm1261610 16 81185412 [T/C] NM_052892 PKD1L2 EXON Missense_V1505M exm1261617 16 81185514 [T/C] NM_052892 PKD1L2 EXON Missense_V1471M exm1261624 16 81187635 [T/G] NM_052892 PKD1L2 EXON Missense_T1446N exm1261625 16 81187665 [T/C] NM_052892 PKD1L2 EXON Missense_R1436Q exm1261629 16 81187695 [A/G] NM_052892 PKD1L2 EXON Missense_L1426P exm1261631 16 81187709 [T/A] NM_052892 PKD1L2 EXON Missense_R1421S exm1261632 16 81187720 [T/C] NM_052892 PKD1L2 EXON Missense_D1418N exm1261633 16 81187852 [A/G] NM_052892 PKD1L2 EXON Missense_T1406M exm1261634 16 81187868 [A/G] NM_052892 PKD1L2 EXON Nonsense_R1401X exm1261638 16 81190462 [A/G] NM_052892 PKD1L2 Silent exm1261643 16 81190598 [T/C] NM_052892 PKD1L2 EXON Missense_I1331V exm1261644 16 81190601 [T/C] NM_052892 PKD1L2 EXON Missense_N1330D exm1261646 16 81190613 [A/G] NM_052892 PKD1L2 EXON Missense_S1326P exm1261649 16 81190627 [A/G] NM_052892 PKD1L2 EXON Missense_T1321M exm1261650 16 81190634 [T/C] NM_052892 PKD1L2 EXON Missense_G1319R exm1261653 16 81190669 [T/C] NM_052892 PKD1L2 EXON Missense_Q1307R exm1261661 16 81193321 [T/C] NM_052892 PKD1L2 EXON Missense_G1268S exm1261664 16 81193344 [T/C] NM_052892 PKD1L2 EXON Missense_E1260G exm1869428 16 81193372 [A/C] NM_052892 PKD1L2 EXON Missense_G1251W exm1261669 16 81194306 [A/C] NM_052892 PKD1L2 EXON Missense_V1228L exm1261671 16 81194324 [T/C] NM_052892 PKD1L2 EXON Missense_D1222N exm1261672 16 81194335 [T/C] NM_052892 PKD1L2 EXON Missense_K1218R exm1261680 16 81194437 [T/C] NM_052892 PKD1L2 EXON Nonsense_W1184X exm1261689 16 81197218 [A/G] NM_052892 PKD1L2 EXON Missense_S1155L exm1261691 16 81197248 [T/C] NM_052892 PKD1L2 EXON Missense_S1145N exm1261697 16 81198254 [T/C] NM_052892 PKD1L2 EXON Missense_I1114V exm1261700 16 81198272 [T/C] NM_052892 PKD1L2 EXON Missense_G1108S exm1261701 16 81198283 [C/G] NM_052892 PKD1L2 EXON Missense_S1104C exm1261702 16 81198287 [T/C] NM_052892 PKD1L2 EXON Missense_S1103G exm1261707 16 81198338 [T/G] NM_052892 PKD1L2 EXON Missense_P1086T exm1261708 16 81198340 [T/C] NM_052892 PKD1L2 EXON Missense_R1085H exm1261710 16 81198352 [A/C] NM_052892 PKD1L2 EXON Missense_G1081V exm1261714 16 81199468 [C/G] NM_052892 PKD1L2 EXON Missense_P1065R exm1261718 16 81199520 [T/C] NM_052892 PKD1L2 EXON Missense_T1048A exm1261720 16 81199538 [T/C] NM_052892 PKD1L2 EXON Missense_M1042V exm1261721 16 81199544 [A/G] NM_052892 PKD1L2 EXON Nonsense_R1040X exm1869441 16 81199555 [A/G] NM_052892 PKD1L2 EXON Missense_L1036P exm1261732 16 81201625 [A/G] NM_052892 PKD1L2 EXON Missense_R998C exm1261733 16 81201642 [T/C] NM_052892 PKD1L2 EXON Missense_R992H exm1261737 16 81204352 [C/G] NM_052892,NM_001076780 PKD1L2,PKD1L2 EXON Silent,Missense_A990G exm1261739 16 81204374 [G/C] NM_052892,NM_001076780 PKD1L2,PKD1L2 EXON Silent,Missense_P983A exm1261741 16 81204395 [T/C] NM_052892,NM_001076780 PKD1L2,PKD1L2 EXON Silent,Missense_D976N exm1261745 16 81204406 [A/G] NM_052892,NM_001076780 PKD1L2,PKD1L2 EXON Silent,Missense_S972F exm1261749 16 81204576 [T/C] NM_052892,NM_001076780 PKD1L2,PKD1L2 EXON Missense_R961Q,Missense_R961Q exm1261750 16 81204577 [A/G] NM_052892,NM_001076780 PKD1L2,PKD1L2 EXON Missense_R961W,Missense_R961W exm1261768 16 81208348 [T/G] NM_052892,NM_001076780 PKD1L2,PKD1L2 EXON Missense_L919M,Missense_L919M exm1261774 16 81208402 [T/C] NM_052892,NM_001076780 PKD1L2,PKD1L2 EXON Missense_A901T,Missense_A901T exm1261775 16 81208434 [T/C] NM_052892,NM_001076780 PKD1L2,PKD1L2 EXON Missense_G890D,Missense_G890D exm1261778 16 81208471 [A/C] NM_052892,NM_001076780 PKD1L2,PKD1L2 EXON Missense_V878L,Missense_V878L exm1261780 16 81208473 [T/G] NM_052892,NM_001076780 PKD1L2,PKD1L2 EXON Missense_A877D,Missense_A877D exm1261784 16 81208512 [A/C] NM_052892,NM_001076780 PKD1L2,PKD1L2 EXON Missense_L864R,Missense_L864R exm1261785 16 81208515 [A/G] NM_052892,NM_001076780 PKD1L2,PKD1L2 EXON Missense_A863V,Missense_A863V exm1261786 16 81208518 [T/A] NM_052892,NM_001076780 PKD1L2,PKD1L2 EXON Missense_V862E,Missense_V862E exm1261790 16 81209247 [T/C] NM_052892,NM_001076780 PKD1L2,PKD1L2 EXON Missense_R849H,Missense_R849H exm1261791 16 81209248 [A/G] NM_052892,NM_001076780 PKD1L2,PKD1L2 EXON Missense_R849C,Missense_R849C exm1261794 16 81209298 [C/G] NM_052892,NM_001076780 PKD1L2,PKD1L2 EXON Missense_G832A,Missense_G832A exm1261799 16 81209325 [A/G] NM_052892,NM_001076780 PKD1L2,PKD1L2 EXON Missense_A823V,Missense_A823V exm1261802 16 81209349 [A/C] NM_052892,NM_001076780 PKD1L2,PKD1L2 EXON Missense_C815F,Missense_C815F exm1261804 16 81209355 [A/C] NM_052892,NM_001076780 PKD1L2,PKD1L2 EXON Missense_G813V,Missense_G813V exm2267959 16 81209378 [A/G] NM_052892,NM_001076780 PKD1L2,PKD1L2 Silent,Silent exm1261807 16 81211444 [A/C] NM_052892,NM_001076780 PKD1L2,PKD1L2 EXON Missense_G802V,Missense_G802V exm1261810 16 81211490 [T/C] NM_052892,NM_001076780 PKD1L2,PKD1L2 EXON Missense_V787I,Missense_V787I exm1261812 16 81211496 [A/C] NM_052892,NM_001076780 PKD1L2,PKD1L2 EXON Missense_G785C,Missense_G785C exm1261819 16 81211550 [A/T] NM_052892,NM_001076780 PKD1L2,PKD1L2 EXON Missense_I767F,Missense_I767F exm1261832 16 81213312 [A/G] NM_052892,NM_001076780 PKD1L2,PKD1L2 EXON Missense_T733M,Missense_T733M exm1261837 16 81213372 [G/C] NM_052892,NM_001076780 PKD1L2,PKD1L2 EXON Missense_A713G,Missense_A713G exm1261838 16 81213378 [A/G] NM_052892,NM_001076780 PKD1L2,PKD1L2 EXON Missense_L711P,Missense_L711P exm1261846 16 81214789 [G/C] NM_052892,NM_001076780 PKD1L2,PKD1L2 EXON Missense_F695L,Missense_F695L exm1261851 16 81219103 [C/G] NM_052892,NM_001076780 PKD1L2,PKD1L2 EXON Missense_R664P,Missense_R664P exm1261855 16 81219187 [T/C] NM_052892,NM_001076780 PKD1L2,PKD1L2 EXON Missense_R636H,Missense_R636H exm1261856 16 81219188 [A/G] NM_052892,NM_001076780 PKD1L2,PKD1L2 EXON Missense_R636C,Missense_R636C exm1261861 16 81219254 [T/G] NM_052892,NM_001076780 PKD1L2,PKD1L2 EXON Missense_T614P,Missense_T614P exm1261862 16 81219257 [A/G] NM_052892,NM_001076780 PKD1L2,PKD1L2 EXON Missense_R613C,Missense_R613C exm1261869 16 81222526 [T/C] NM_052892,NM_001076780 PKD1L2,PKD1L2 EXON Nonsense_W583X,Nonsense_W583X exm1261870 16 81222551 [A/G] NM_052892,NM_001076780 PKD1L2,PKD1L2 EXON Missense_P575L,Missense_P575L exm1261874 16 81222588 [T/A] NM_052892,NM_001076780 PKD1L2,PKD1L2 EXON Missense_M563L,Missense_M563L exm1261877 16 81224271 [G/C] NM_052892,NM_001076780 PKD1L2,PKD1L2 EXON Missense_S557T,Missense_S557T exm1261878 16 81224298 [A/G] NM_052892,NM_001076780 PKD1L2,PKD1L2 EXON Missense_P548L,Missense_P548L exm1261886 16 81232275 [A/G] NM_052892,NM_001076780 PKD1L2,PKD1L2 EXON Missense_P512L,Missense_P512L exm1261887 16 81232294 [T/C] NM_052892,NM_001076780 PKD1L2,PKD1L2 EXON Missense_I506V,Missense_I506V exm1261890 16 81232336 [T/C] NM_052892,NM_001076780 PKD1L2,PKD1L2 EXON Missense_T492A,Missense_T492A exm1261897 16 81232408 [C/G] NM_052892,NM_001076780 PKD1L2,PKD1L2 EXON Missense_L468V,Missense_L468V exm1869505 16 81232426 [A/C] NM_052892,NM_001076780 PKD1L2,PKD1L2 EXON Missense_L462V,Missense_L462V exm1261910 16 81232539 [T/C] NM_052892,NM_001076780 PKD1L2,PKD1L2 EXON Missense_R424H,Missense_R424H exm1261911 16 81232564 [T/G] NM_052892,NM_001076780 PKD1L2,PKD1L2 EXON Missense_K416Q,Missense_K416Q exm1261914 16 81232590 [T/C] NM_052892,NM_001076780 PKD1L2,PKD1L2 EXON Missense_N407S,Missense_N407S exm1261918 16 81232614 [T/G] NM_052892,NM_001076780 PKD1L2,PKD1L2 EXON Missense_T399N,Missense_T399N exm1261928 16 81236154 [A/G] NM_052892,NM_001076780 PKD1L2,PKD1L2 EXON Missense_A365V,Missense_A365V exm1261930 16 81236170 [T/C] NM_052892,NM_001076780 PKD1L2,PKD1L2 EXON Missense_G360S,Missense_G360S exm1869513 16 81236233 [T/C] NM_052892,NM_001076780 PKD1L2,PKD1L2 EXON Missense_V339M,Missense_V339M exm1261936 16 81236257 [T/C] NM_052892,NM_001076780 PKD1L2,PKD1L2 EXON Missense_V331M,Missense_V331M exm1261938 16 81236277 [T/C] NM_052892,NM_001076780 PKD1L2,PKD1L2 EXON Missense_C324Y,Missense_C324Y exm1261941 16 81236325 [A/C] NM_052892,NM_001076780 PKD1L2,PKD1L2 EXON Missense_V308G,Missense_V308G exm1261943 16 81241100 [G/C] NM_052892,NM_001076780 PKD1L2,PKD1L2 EXON Missense_P301A,Missense_P301A exm1261946 16 81241136 [T/G] NM_052892,NM_001076780 PKD1L2,PKD1L2 EXON Missense_S289R,Missense_S289R exm1261948 16 81241175 [A/G] NM_052892,NM_001076780 PKD1L2,PKD1L2 EXON Missense_L276F,Missense_L276F exm1261951 16 81241205 [A/G] NM_052892,NM_001076780 PKD1L2,PKD1L2 EXON Missense_F266L,Missense_F266L exm1261954 16 81241220 [T/C] NM_052892,NM_001076780 PKD1L2,PKD1L2 EXON Missense_S261G,Missense_S261G exm1261960 16 81242097 [T/C] NM_052892,NM_001076780 PKD1L2,PKD1L2 EXON Synonymous_E253E,Synonymous_E253E exm1261961 16 81242102 [A/G] NM_052892,NM_001076780 PKD1L2,PKD1L2 EXON Missense_R252W,Missense_R252W exm1261962 16 81242107 [T/C] NM_052892,NM_001076780 PKD1L2,PKD1L2 EXON Missense_Q250R,Missense_Q250R exm1261972 16 81242194 [T/C] NM_052892,NM_001076780 PKD1L2,PKD1L2 EXON Missense_E221G,Missense_E221G exm1261973 16 81242198 [A/G] NM_052892,NM_001076780 PKD1L2,PKD1L2 EXON Nonsense_Q220X,Nonsense_Q220X exm1261977 16 81248650 [T/C] NM_052892,NM_001076780 PKD1L2,PKD1L2 EXON Missense_G205R,Missense_G205R exm1261980 16 81248706 [T/C] NM_052892,NM_001076780 PKD1L2,PKD1L2 EXON Missense_R186H,Missense_R186H exm1261982 16 81248716 [T/C] NM_052892,NM_001076780 PKD1L2,PKD1L2 EXON Missense_V183I,Missense_V183I exm1261984 16 81248745 [A/G] NM_052892,NM_001076780 PKD1L2,PKD1L2 EXON Missense_L173S,Missense_L173S exm1261986 16 81248758 [T/C] NM_052892,NM_001076780 PKD1L2,PKD1L2 EXON Missense_V169M,Missense_V169M exm1261987 16 81248778 [G/C] NM_052892,NM_001076780 PKD1L2,PKD1L2 EXON Missense_C162S,Missense_C162S exm1261988 16 81248797 [T/C] NM_052892,NM_001076780 PKD1L2,PKD1L2 EXON Missense_V156I,Missense_V156I exm1261990 16 81249850 [T/G] NM_052892,NM_001076780 PKD1L2,PKD1L2 EXON Synonymous_R155R,Synonymous_R155R exm1261993 16 81249871 [A/G] NM_052892,NM_001076780 PKD1L2,PKD1L2 EXON Missense_F148L,Missense_F148L exm1261995 16 81249888 [A/G] NM_052892,NM_001076780 PKD1L2,PKD1L2 EXON Missense_S142L,Missense_S142L exm1261996 16 81249892 [T/C] NM_052892,NM_001076780 PKD1L2,PKD1L2 EXON Missense_T141A,Missense_T141A exm1261997 16 81249900 [T/C] NM_052892,NM_001076780 PKD1L2,PKD1L2 EXON Missense_E138G,Missense_E138G exm1261999 16 81249909 [A/G] NM_052892,NM_001076780 PKD1L2,PKD1L2 EXON Missense_P135L,Missense_P135L exm1262000 16 81249919 [T/C] NM_052892,NM_001076780 PKD1L2,PKD1L2 EXON Missense_G132R,Missense_G132R exm2252761 16 81249929 [A/G] NM_052892,NM_001076780 PKD1L2,PKD1L2 EXON Synonymous_C128C,Synonymous_C128C exm1262006 16 81249954 [T/A] NM_052892,NM_001076780 PKD1L2,PKD1L2 EXON Missense_Q120L,Missense_Q120L exm1262017 16 81253676 [A/C] NM_052892,NM_001076780 PKD1L2,PKD1L2 EXON Missense_E100D,Missense_E100D exm1262021 16 81253745 [G/C] NM_052892,NM_001076780 PKD1L2,PKD1L2 EXON Missense_K77N,Missense_K77N exm1262022 16 81253759 [A/G] NM_052892,NM_001076780 PKD1L2,PKD1L2 EXON Missense_W73R,Missense_W73R exm-rs6564851 16 81264597 [T/G] exm1262049 16 81279208 [A/G] NM_017429 BCMO1 EXON Missense_G65S exm1262055 16 81295825 [A/C] NM_017429 BCMO1 EXON Nonsense_Y136X exm1262056 16 81295827 [T/C] NM_017429 BCMO1 EXON Missense_A137V exm1262060 16 81298254 [T/C] NM_017429 BCMO1 EXON Missense_R161C exm1262064 16 81298269 [A/G] NM_017429 BCMO1 EXON Missense_V166I exm1262066 16 81298282 [T/C] NM_017429 BCMO1 EXON Missense_T170M exm1262069 16 81298301 [T/G] NM_017429 BCMO1 EXON Missense_D176E exm1262071 16 81298341 [A/G] NM_017429 BCMO1 EXON Missense_E190K exm1262078 16 81301575 [T/C] NM_017429 BCMO1 EXON Missense_R228C exm1262086 16 81301689 [T/C] NM_017429 BCMO1 EXON Missense_R266W exm1262087 16 81301690 [A/G] NM_017429 BCMO1 EXON Missense_R266Q exm1262088 16 81301694 [T/A] NM_017429 BCMO1 EXON Missense_R267S exm-rs4889294 16 81303759 [T/C] NM_017429 BCMO1 Silent exm1262098 16 81303855 [G/C] NM_017429 BCMO1 EXON Missense_A312G exm1262099 16 81303870 [A/G] NM_017429 BCMO1 EXON Missense_G317D exm1262100 16 81303887 [A/G] NM_017429 BCMO1 EXON Missense_V323I exm1262102 16 81303891 [T/C] NM_017429 BCMO1 EXON Missense_I324T exm1262131 16 81320994 [G/C] NM_017429 BCMO1 EXON Missense_A466G exm1262132 16 81323953 [G/C] NM_017429 BCMO1 EXON Missense_G472A exm1262135 16 81324031 [A/C] NM_017429 BCMO1 EXON Missense_T498K exm1262137 16 81324126 [A/G] NM_017429 BCMO1 EXON Missense_A530T exm1262139 16 81324148 [A/G] NM_017429 BCMO1 EXON Missense_R537K exm1262141 16 81324160 [A/G] NM_017429 BCMO1 EXON Missense_C541Y exm-rs6564869 16 81372725 [A/C] NM_022041 GAN Silent exm1262179 16 81390486 [A/G] NM_022041 GAN EXON Missense_I244V exm1869619 16 81398582 [A/G] NM_022041 GAN EXON Missense_G414S exm1262218 16 81399026 [T/C] NM_022041 GAN EXON Missense_A482V exm1262226 16 81411037 [A/G] NM_022041 GAN EXON Missense_V544M exm2267916 16 81504477 [A/G] NM_198390 CMIP Silent exm-rs2925979 16 81534790 [T/C] NM_198390,NM_030629 CMIP,CMIP Silent,Silent exm1262281 16 81712095 [T/C] NM_198390,NM_030629 CMIP,CMIP EXON Missense_T417M,Missense_T323M exm1262299 16 81727075 [A/G] NM_198390,NM_030629 CMIP,CMIP EXON Missense_E505K,Missense_E411K exm1262310 16 81733293 [T/C] NM_198390,NM_030629 CMIP,CMIP EXON Missense_H548Y,Missense_H454Y exm1262348 16 81819605 [T/C] NM_002661 PLCG2 EXON Missense_T4M exm1262354 16 81819671 [T/C] NM_002661 PLCG2 EXON Missense_T26M exm1262357 16 81819704 [A/C] NM_002661 PLCG2 EXON Missense_T37N exm1262371 16 81891928 [T/C] NM_002661 PLCG2 EXON Missense_A133V exm1262392 16 81904539 [T/C] NM_002661 PLCG2 EXON Missense_S216L exm1262402 16 81916888 [T/C] NM_002661 PLCG2 EXON Missense_P236L exm1869785 16 81916932 [A/G] NM_002661 PLCG2 EXON Missense_I251V exm1262408 16 81922781 [T/A] NM_002661 PLCG2 EXON Missense_H257L exm1262411 16 81922813 [T/C] NM_002661 PLCG2 EXON Missense_R268W exm1262418 16 81925132 [T/C] NM_002661 PLCG2 EXON Missense_A308V exm1262422 16 81927314 [A/G] NM_002661 PLCG2 EXON Synonymous_T329T exm1262424 16 81927376 [A/G] NM_002661 PLCG2 EXON Missense_R350H exm1262437 16 81929499 [A/C] NM_002661 PLCG2 EXON Missense_Q387P exm1262443 16 81934332 [A/G] NM_002661 PLCG2 EXON Missense_S437G exm1262445 16 81934365 [T/C] NM_002661 PLCG2 EXON Missense_R448W exm1262450 16 81939089 [T/C] NM_002661 PLCG2 EXON Missense_Y482H exm1262459 16 81942028 [C/G] NM_002661 PLCG2 EXON Missense_P522R exm1262467 16 81942175 [A/G] NM_002661 PLCG2 EXON Missense_N571S exm1262469 16 81944136 [A/G] NM_002661 PLCG2 EXON Missense_R582Q exm1262471 16 81944250 [T/C] NM_002661 PLCG2 EXON Missense_T620M exm1262479 16 81946278 [A/G] NM_002661 PLCG2 EXON Missense_I671V exm2252766 16 81953128 [T/C] NM_002661 PLCG2 EXON Synonymous_D698D exm1262491 16 81953195 [A/G] NM_002661 PLCG2 EXON Missense_E721K exm1262502 16 81954827 [G/C] NM_002661 PLCG2 EXON Missense_D754H exm2252767 16 81954829 [T/C] NM_002661 PLCG2 EXON Synonymous_D754D exm1869837 16 81957094 [A/G] NM_002661 PLCG2 EXON Missense_Q771R exm1262512 16 81957175 [A/G] NM_002661 PLCG2 EXON Missense_N798S exm1262522 16 81960772 [A/C] NM_002661 PLCG2 EXON Missense_L835I exm1262524 16 81960783 [A/G] NM_002661 PLCG2 EXON Synonymous_Q838Q exm1262527 16 81962190 [T/C] NM_002661 PLCG2 EXON Missense_L848F exm1262532 16 81965151 [C/G] NM_002661 PLCG2 EXON Missense_E877D exm1262535 16 81968131 [A/G] NM_002661 PLCG2 EXON Missense_N946S exm1262552 16 81971435 [C/G] NM_002661 PLCG2 EXON Missense_S1042T exm1262582 16 81990400 [A/G] NM_002661 PLCG2 EXON Missense_R1224H exm1262584 16 81990411 [T/C] NM_002661 PLCG2 EXON Missense_R1228W exm1262590 16 82032745 [T/G] NM_145168 SDR42E1 EXON Missense_L385M exm2225426 16 82032939 [T/C] NM_145168 SDR42E1 EXON Missense_G320D exm1262598 16 82032990 [T/C] NM_145168 SDR42E1 EXON Missense_R303Q exm1262601 16 82033031 [C/G] NM_145168 SDR42E1 EXON Missense_C289W exm1262603 16 82033057 [A/G] NM_145168 SDR42E1 EXON Missense_R281C exm1262605 16 82033065 [A/G] NM_145168 SDR42E1 EXON Missense_P278L exm1262607 16 82033111 [A/G] NM_145168 SDR42E1 EXON Missense_F263L exm1262613 16 82033246 [T/C] NM_145168 SDR42E1 EXON Missense_S218G exm1262614 16 82033255 [T/C] NM_145168 SDR42E1 EXON Missense_D215N exm1262615 16 82033260 [T/C] NM_145168 SDR42E1 EXON Missense_Y213C exm1262619 16 82033308 [A/G] NM_145168 SDR42E1 EXON Missense_L197P exm1262621 16 82033344 [A/G] NM_145168 SDR42E1 EXON Missense_P185L exm1262622 16 82033354 [T/C] NM_145168 SDR42E1 EXON Missense_A182T exm1262629 16 82033500 [A/G] NM_145168 SDR42E1 EXON Missense_I133T exm1262636 16 82033612 [T/C] NM_145168 SDR42E1 EXON Missense_K96E exm1262639 16 82033626 [T/C] NM_145168 SDR42E1 EXON Missense_N91S exm1262640 16 82033638 [T/C] NM_145168 SDR42E1 EXON Missense_R87Q exm1262644 16 82033708 [T/C] NM_145168 SDR42E1 EXON Missense_V64I exm1262646 16 82033810 [A/G] NM_145168 SDR42E1 EXON Nonsense_Q30X exm1262651 16 82034423 [A/G] NM_145168 SDR42E1 EXON Missense_T14I exm1262652 16 82034430 [C/G] NM_145168 SDR42E1 EXON Missense_L12V exm1262654 16 82034435 [G/C] NM_145168 SDR42E1 EXON Missense_S10T exm1262656 16 82034460 [T/C] NM_145168 SDR42E1 EXON Missense_D2N exm1262659 16 82069041 [C/G] NM_002153 HSD17B2 EXON Missense_F4L exm1262663 16 82069088 [A/G] NM_002153 HSD17B2 EXON Missense_C20Y exm1262688 16 82101870 [A/G] NM_002153 HSD17B2 EXON Missense_A121T exm1262689 16 82101882 [T/C] NM_002153 HSD17B2 EXON Nonsense_R125X exm1262697 16 82101987 [C/G] NM_002153 HSD17B2 EXON Missense_G160R exm1262704 16 82104680 [C/G] NM_002153 HSD17B2 EXON Missense_L204F exm1262708 16 82124518 [A/G] NM_002153 HSD17B2 EXON Missense_M226V exm1262709 16 82124538 [T/G] NM_002153 HSD17B2 EXON Nonsense_Y232X exm1262713 16 82124561 [C/G] NM_002153 HSD17B2 EXON Missense_T240S exm1262715 16 82124615 [T/C] NM_002153 HSD17B2 EXON Missense_A258V exm1262719 16 82131688 [T/G] NM_002153 HSD17B2 EXON Missense_G271C exm1262726 16 82131836 [T/C] NM_002153 HSD17B2 EXON Missense_P320L exm1262732 16 82131973 [T/C] NM_002153 HSD17B2 EXON Missense_H366Y exm1262738 16 82132040 [A/G] NM_002153 HSD17B2 EXON Missense_X388W exm2267917 16 82147609 [A/G] exm1869937 16 82182368 [T/C] NM_005792 MPHOSPH6 EXON Missense_A151T exm1262750 16 82182418 [T/C] NM_005792 MPHOSPH6 EXON Missense_D134G exm1262752 16 82182446 [T/C] NM_005792 MPHOSPH6 EXON Missense_I125V exm1262760 16 82185112 [T/C] NM_005792 MPHOSPH6 EXON Missense_I58V exm2274865 16 82197733 [T/C] NM_005792 MPHOSPH6 EXON Missense_S40G exm1262772 16 82203758 [T/C] NM_005792 MPHOSPH6 EXON Missense_R8K exm2267960 16 82257551 [A/G] exm-rs902542 16 82259866 [A/G] exm-rs2967334 16 82273152 [T/C] exm-rs4087296 16 82377781 [T/C] exm-rs4082514 16 82379953 [T/G] exm-rs1991867 16 82519228 [T/C] exm2272406 16 82536256 [T/C] exm-rs4783227 16 82594383 [T/C] exm-rs8063330 16 82627952 [T/C] exm-rs11646213 16 82642651 [T/A] exm-rs3865188 16 82650717 [A/T] exm1262783 16 82673047 [T/C] NM_001220491,NM_001220490,NM_001257,NM_001220489,NM_001220488,NM_001220492 CDH13,CDH13,CDH13,CDH13,CDH13,CDH13 EXON Silent,Silent,Silent,Silent,Missense_P55S,Silent exm2272454 16 82713551 [T/C] NM_001220491,NM_001220490,NM_001257,NM_001220489,NM_001220488,NM_001220492 CDH13,CDH13,CDH13,CDH13,CDH13,CDH13 Silent,Silent,Silent,Silent,Silent,Silent exm-rs12386026 16 82817591 [T/C] NM_001220491,NM_001220490,NM_001257,NM_001220489,NM_001220488,NM_001220492 CDH13,CDH13,CDH13,CDH13,CDH13,CDH13 Silent,Silent,Silent,Silent,Silent,Silent exm1262786 16 82892037 [A/G] NM_001220491,NM_001220490,NM_001257,NM_001220489,NM_001220488,NM_001220492 CDH13,CDH13,CDH13,CDH13,CDH13,CDH13 EXON Missense_N39S,Silent,Missense_N39S,Missense_N39S,Missense_N86S,Missense_N39S exm-rs11150519 16 82934307 [A/G] NM_001220491,NM_001220490,NM_001257,NM_001220489,NM_001220488,NM_001220492 CDH13,CDH13,CDH13,CDH13,CDH13,CDH13 Silent,Silent,Silent,Silent,Silent,Silent exm2225429 16 83065643 [G/C] NM_001220491,NM_001220490,NM_001257,NM_001220489,NM_001220488,NM_001220492 CDH13,CDH13,CDH13,CDH13,CDH13,CDH13 EXON Missense_D62E,Silent,Missense_D62E,Missense_D62E,Missense_D109E,Missense_D62E exm1262796 16 83065743 [A/G] NM_001220491,NM_001220490,NM_001257,NM_001220489,NM_001220488,NM_001220492 CDH13,CDH13,CDH13,CDH13,CDH13,CDH13 EXON Missense_V96I,Silent,Missense_V96I,Missense_V96I,Missense_V143I,Missense_V96I exm1262798 16 83065752 [T/C] NM_001220491,NM_001220490,NM_001257,NM_001220489,NM_001220488,NM_001220492 CDH13,CDH13,CDH13,CDH13,CDH13,CDH13 EXON Missense_R99W,Silent,Missense_R99W,Missense_R99W,Missense_R146W,Missense_R99W exm2276468 16 83065765 [A/C] NM_001220491,NM_001220490,NM_001257,NM_001220489,NM_001220488,NM_001220492 CDH13,CDH13,CDH13,CDH13,CDH13,CDH13 EXON Missense_A103E,Silent,Missense_A103E,Missense_A103E,Missense_A150E,Missense_A103E exm1262800 16 83065791 [A/G] NM_001220491,NM_001220490,NM_001257,NM_001220489,NM_001220488,NM_001220492 CDH13,CDH13,CDH13,CDH13,CDH13,CDH13 EXON Missense_V112I,Silent,Missense_V112I,Missense_V112I,Missense_V159I,Missense_V112I exm1262801 16 83065794 [C/G] NM_001220491,NM_001220490,NM_001257,NM_001220489,NM_001220488,NM_001220492 CDH13,CDH13,CDH13,CDH13,CDH13,CDH13 EXON Missense_G113R,Silent,Missense_G113R,Missense_G113R,Missense_G160R,Missense_G113R exm2252771 16 83102477 [A/C] NM_001220491,NM_001220490,NM_001257,NM_001220489,NM_001220488,NM_001220492 CDH13,CDH13,CDH13,CDH13,CDH13,CDH13 Silent,Silent,Silent,Silent,Silent,Silent exm-rs8055236 16 83212398 [T/G] NM_001220491,NM_001220490,NM_001257,NM_001220489,NM_001220488,NM_001220492 CDH13,CDH13,CDH13,CDH13,CDH13,CDH13 Silent,Silent,Silent,Silent,Silent,Silent exm1262813 16 83250987 [T/G] NM_001220490,NM_001257,NM_001220489,NM_001220488 CDH13,CDH13,CDH13,CDH13 EXON Silent,Missense_R174L,Missense_R135L,Missense_R221L exm-rs10514585 16 83284338 [A/G] NM_001220490,NM_001257,NM_001220489,NM_001220488 CDH13,CDH13,CDH13,CDH13 Silent,Silent,Silent,Silent exm1262825 16 83378467 [G/C] NM_001220490,NM_001257,NM_001220489,NM_001220488 CDH13,CDH13,CDH13,CDH13 EXON Silent,Missense_L213V,Missense_L174V,Missense_L260V exm2252772 16 83378514 [A/G] NM_001220490,NM_001257,NM_001220489,NM_001220488 CDH13,CDH13,CDH13,CDH13 EXON Silent,Synonymous_P228P,Synonymous_P189P,Synonymous_P275P exm-rs17216786 16 83487471 [A/C] NM_001220490,NM_001257,NM_001220489,NM_001220488 CDH13,CDH13,CDH13,CDH13 Silent,Silent,Silent,Silent exm1262839 16 83520083 [A/C] NM_001220490,NM_001257,NM_001220489,NM_001220488 CDH13,CDH13,CDH13,CDH13 EXON Synonymous_G7G,Synonymous_G261G,Synonymous_G222G,Synonymous_G308G exm2272455 16 83563611 [T/G] NM_001220490,NM_001257,NM_001220489,NM_001220488 CDH13,CDH13,CDH13,CDH13 Silent,Silent,Silent,Silent exm1262858 16 83636197 [C/G] NM_001220490,NM_001257,NM_001220489,NM_001220488 CDH13,CDH13,CDH13,CDH13 EXON Missense_E113Q,Missense_E367Q,Missense_E328Q,Missense_E414Q exm-rs6563943 16 83639335 [A/G] NM_001220490,NM_001257,NM_001220489,NM_001220488 CDH13,CDH13,CDH13,CDH13 Silent,Silent,Silent,Silent exm1262861 16 83704419 [A/G] NM_001220490,NM_001257,NM_001220489,NM_001220488 CDH13,CDH13,CDH13,CDH13 EXON Missense_A122T,Missense_A376T,Missense_A337T,Missense_A423T exm1262876 16 83711918 [A/G] NM_001220490,NM_001257,NM_001220489,NM_001220488 CDH13,CDH13,CDH13,CDH13 EXON Missense_V210I,Missense_V464I,Missense_V425I,Missense_V511I exm1262881 16 83712011 [A/G] NM_001220490,NM_001257,NM_001220489,NM_001220488 CDH13,CDH13,CDH13,CDH13 EXON Missense_V241M,Missense_V495M,Missense_V456M,Missense_V542M exm2272407 16 83727833 [T/G] NM_001220490,NM_001257,NM_001220489,NM_001220488 CDH13,CDH13,CDH13,CDH13 Silent,Silent,Silent,Silent exm-rs3784962 16 83757328 [A/G] NM_001220490,NM_001257,NM_001220489,NM_001220488 CDH13,CDH13,CDH13,CDH13 Silent,Silent,Silent,Silent exm-rs3096277 16 83764204 [T/C] NM_001220490,NM_001257,NM_001220489,NM_001220488 CDH13,CDH13,CDH13,CDH13 Silent,Silent,Silent,Silent exm1262893 16 83813644 [A/G] NM_001220490,NM_001257,NM_001220489,NM_001220488 CDH13,CDH13,CDH13,CDH13 EXON Missense_I331V,Missense_I585V,Missense_I546V,Missense_I632V exm1262902 16 83813806 [T/A] NM_001220490,NM_001257,NM_001220489,NM_001220488 CDH13,CDH13,CDH13,CDH13 EXON Missense_N385Y,Missense_N639Y,Missense_N600Y,Missense_N686Y exm1262903 16 83816871 [T/G] NM_001220490,NM_001257,NM_001220489,NM_001220488 CDH13,CDH13,CDH13,CDH13 EXON Missense_L389R,Missense_L643R,Missense_L604R,Missense_L690R exm1262914 16 83817060 [C/G] NM_001220490,NM_001257,NM_001220489,NM_001220488 CDH13,CDH13,CDH13,CDH13 EXON Missense_S452T,Missense_S706T,Missense_S667T,Missense_S753T exm1262916 16 83817069 [C/G] NM_001220490,NM_001257,NM_001220489,NM_001220488 CDH13,CDH13,CDH13,CDH13 EXON Missense_S455T,Missense_S709T,Missense_S670T,Missense_S756T exm1262928 16 83842969 [C/G] NM_001537 HSBP1 EXON Missense_Q58E exm1262930 16 83842988 [A/T] NM_001537 HSBP1 EXON Missense_L64Q exm1262962 16 83940604 [A/G] NM_012213 MLYCD EXON Missense_V181M exm1262965 16 83940623 [G/C] NM_012213 MLYCD EXON Nonsense_S187X exm1262974 16 83941775 [A/G] NM_012213 MLYCD EXON Missense_R229H exm1870087 16 83941833 [A/G] NM_012213 MLYCD EXON Synonymous_E248E exm1262982 16 83941865 [G/C] NM_012213 MLYCD EXON Missense_G259A exm1262989 16 83945874 [A/G] NM_012213 MLYCD EXON Missense_T284A exm1262996 16 83945949 [A/C] NM_012213 MLYCD EXON Missense_K309Q exm1870089 16 83945953 [A/G] NM_012213 MLYCD EXON Missense_R310Q exm1263002 16 83948656 [T/G] NM_012213 MLYCD EXON Missense_E348D exm1263012 16 83948787 [A/G] NM_012213 MLYCD EXON Missense_R392Q exm1263026 16 83948906 [T/C] NM_012213 MLYCD EXON Missense_R432C exm2276469 16 83949036 [A/G] NM_012213 MLYCD EXON Missense_K475R exm1263045 16 83983071 [T/C] exm1263046 16 83983083 [A/G] exm1263048 16 83983086 [A/G] exm1263052 16 83984776 [A/C] exm1263055 16 83984844 [A/C] exm1263057 16 83984850 [G/C] exm1263059 16 83984857 [G/C] exm1263068 16 83991313 [A/C] NM_182981 OSGIN1 EXON Missense_S13R exm1263076 16 83992895 [A/G] NM_182981 OSGIN1 EXON Missense_Y33C exm1263080 16 83992961 [A/G] NM_182981 OSGIN1 EXON Missense_R55K exm1263093 16 83994249 [C/G] NM_182981 OSGIN1 EXON Missense_R94G exm2252774 16 83994314 [T/C] NM_182981 OSGIN1 EXON Synonymous_H115H exm1870133 16 83998684 [A/G] NM_182981 OSGIN1 EXON Missense_R169Q exm1263131 16 83998936 [T/C] NM_182981 OSGIN1 EXON Missense_A253V exm1263133 16 83998995 [A/G] NM_182981 OSGIN1 EXON Missense_E273K exm1263154 16 83999136 [A/G] NM_182981 OSGIN1 EXON Missense_D320N exm1263157 16 83999211 [T/C] NM_182981 OSGIN1 EXON Missense_R345W exm1263158 16 83999212 [A/G] NM_182981 OSGIN1 EXON Missense_R345Q exm1263159 16 83999218 [A/G] NM_182981 OSGIN1 EXON Missense_Q347R exm1263163 16 83999246 [T/G] NM_182981 OSGIN1 EXON Missense_E356D exm2225435 16 83999337 [T/C] NM_182981 OSGIN1 EXON Missense_F387L exm1263172 16 83999431 [A/G] NM_182981 OSGIN1 EXON Missense_Q418R exm1870147 16 83999434 [T/C] NM_182981 OSGIN1 EXON Missense_P419L exm1263174 16 83999463 [A/G] NM_182981 OSGIN1 EXON Missense_V429M exm1263175 16 83999490 [A/C] NM_182981 OSGIN1 EXON Missense_R438S exm1263176 16 83999491 [A/G] NM_182981 OSGIN1 EXON Missense_R438H exm1263178 16 83999533 [A/T] NM_182981 OSGIN1 EXON Missense_N452I exm1263180 16 83999548 [T/C] NM_182981 OSGIN1 EXON Missense_V457A exm1263182 16 83999565 [A/G] NM_182981 OSGIN1 EXON Missense_A463T exm2252776 16 84012104 [T/C] NM_019065 NECAB2 EXON Synonymous_L94L exm1263202 16 84012136 [T/C] NM_019065 NECAB2 EXON Missense_T105M exm1263217 16 84014682 [G/C] NM_019065 NECAB2 EXON Missense_L137V exm2272456 16 84020685 [T/G] NM_019065 NECAB2 Silent exm1263224 16 84024163 [A/G] NM_019065 NECAB2 EXON Missense_N175S exm1263236 16 84027936 [T/C] NM_019065 NECAB2 EXON Missense_A209V exm1263242 16 84027968 [A/G] NM_019065 NECAB2 EXON Missense_A220T exm1263244 16 84027985 [G/C] NM_019065 NECAB2 EXON Missense_H225Q exm1263247 16 84028014 [C/G] NM_019065 NECAB2 EXON Missense_T235S exm1263260 16 84030846 [A/G] NM_019065 NECAB2 EXON Missense_R274H exm1263262 16 84030864 [A/G] NM_019065 NECAB2 EXON Missense_G280D exm1263280 16 84031884 [G/C] NM_019065 NECAB2 EXON Missense_Q308H exm1263281 16 84031900 [A/G] NM_019065 NECAB2 EXON Missense_T314A exm1263285 16 84031922 [T/A] NM_019065 NECAB2 EXON Missense_H321L exm1263291 16 84034351 [A/G] NM_019065 NECAB2 EXON Missense_D329N exm1263300 16 84035430 [A/G] NM_019065 NECAB2 EXON Synonymous_R347R exm1263301 16 84035446 [G/C] NM_019065 NECAB2 EXON Missense_L353V exm1263345 16 84046615 [A/G] NM_001080442 SLC38A8 EXON Missense_P402L exm1263370 16 84050247 [A/G] NM_001080442 SLC38A8 EXON Missense_R347W exm1263373 16 84050259 [G/C] NM_001080442 SLC38A8 EXON Missense_G343R exm1263374 16 84050264 [A/G] NM_001080442 SLC38A8 EXON Missense_P341L exm1263375 16 84050265 [A/G] NM_001080442 SLC38A8 EXON Missense_P341S exm1263376 16 84050268 [T/C] NM_001080442 SLC38A8 EXON Missense_D340N exm1263382 16 84050325 [A/T] NM_001080442 SLC38A8 EXON Missense_M321L exm1263389 16 84050776 [T/C] NM_001080442 SLC38A8 EXON Missense_T308A exm1263390 16 84050779 [T/C] NM_001080442 SLC38A8 EXON Missense_V307I exm1263393 16 84050850 [T/G] NM_001080442 SLC38A8 EXON Missense_D283A exm1263395 16 84050890 [T/C] NM_001080442 SLC38A8 EXON Missense_V270I exm1870287 16 84056381 [G/C] NM_001080442 SLC38A8 EXON Synonymous_T268T exm2252777 16 84063111 [A/G] NM_001080442 SLC38A8 EXON Synonymous_C226C exm1263408 16 84063130 [G/C] NM_001080442 SLC38A8 EXON Missense_S220T exm1263415 16 84065476 [G/C] NM_001080442 SLC38A8 EXON Missense_L210V exm1263428 16 84066963 [A/G] NM_001080442 SLC38A8 EXON Missense_P167L exm1263429 16 84066976 [A/G] NM_001080442 SLC38A8 EXON Missense_P163S exm1263435 16 84067018 [A/G] NM_001080442 SLC38A8 EXON Nonsense_Q149X exm1263436 16 84067023 [C/G] NM_001080442 SLC38A8 EXON Missense_A147G exm1263441 16 84067054 [G/C] NM_001080442 SLC38A8 EXON Missense_G137R exm1263442 16 84070306 [T/C] NM_001080442 SLC38A8 Silent exm1263472 16 84075574 [T/C] NM_001080442 SLC38A8 EXON Synonymous_L63L exm1263475 16 84075593 [A/G] NM_001080442 SLC38A8 EXON Missense_P57L exm1263491 16 84075704 [T/G] NM_001080442 SLC38A8 EXON Missense_A20D exm1263495 16 84075749 [A/G] NM_001080442 SLC38A8 EXON Missense_T5I exm1263506 16 84089622 [T/C] NM_003791 MBTPS1 EXON Missense_D984N exm1263508 16 84089631 [T/C] NM_003791 MBTPS1 EXON Missense_G981S exm1263514 16 84089726 [T/C] NM_003791 MBTPS1 EXON Missense_H949R exm1263529 16 84093019 [A/G] NM_003791 MBTPS1 EXON Missense_R907W exm2252778 16 84094363 [T/C] NM_003791 MBTPS1 EXON Synonymous_P876P exm1263543 16 84094417 [G/C] NM_003791 MBTPS1 EXON Missense_D858E exm1263546 16 84096911 [T/C] NM_003791 MBTPS1 EXON Synonymous_K857K exm1263548 16 84096985 [T/C] NM_003791 MBTPS1 EXON Missense_I833V exm1263553 16 84097021 [C/G] NM_003791 MBTPS1 EXON Missense_V821L exm1263557 16 84099330 [T/C] NM_003791 MBTPS1 EXON Missense_D799G exm1263596 16 84104344 [T/C] NM_003791 MBTPS1 EXON Missense_N544S exm1263605 16 84108345 [T/A] NM_003791 MBTPS1 EXON Missense_L484M exm1263623 16 84118667 [T/C] NM_003791 MBTPS1 EXON Missense_V403M exm1870389 16 84121007 [T/C] NM_003791 MBTPS1 EXON Missense_E364K exm2252779 16 84125394 [A/G] NM_003791 MBTPS1 EXON Synonymous_D302D exm1263642 16 84126798 [T/G] NM_003791 MBTPS1 EXON Missense_N281H exm1263645 16 84126901 [T/C] NM_003791 MBTPS1 EXON Synonymous_G246G exm1870406 16 84127418 [T/C] NM_003791 MBTPS1 EXON Missense_V212I exm1263655 16 84129212 [A/T] NM_003791 MBTPS1 EXON Missense_Y207F exm2225442 16 84129228 [C/G] NM_003791 MBTPS1 EXON Missense_L202V exm1263659 16 84129263 [A/G] NM_003791 MBTPS1 EXON Missense_P190L exm1263662 16 84129354 [A/G] NM_003791 MBTPS1 EXON Missense_R160C exm1263663 16 84129389 [T/C] NM_003791 MBTPS1 EXON Missense_N148S exm1263664 16 84129399 [T/C] NM_003791 MBTPS1 EXON Missense_V145I exm1263668 16 84132690 [T/C] NM_003791 MBTPS1 EXON Missense_R130Q exm1263670 16 84132708 [T/C] NM_003791 MBTPS1 EXON Missense_K124R exm1263679 16 84132837 [T/C] NM_003791 MBTPS1 EXON Missense_E81G exm1263686 16 84135228 [T/C] NM_003791 MBTPS1 EXON Missense_Y54C exm1263692 16 84135283 [C/G] NM_003791 MBTPS1 EXON Missense_P36A exm1263694 16 84135322 [T/C] NM_003791 MBTPS1 EXON Missense_D23N exm1263697 16 84135372 [A/G] NM_003791 MBTPS1 EXON Missense_I6T exm1263706 16 84158248 [G/C] NM_031463,NM_001146051 HSDL1,HSDL1 EXON Missense_S327C,Missense_S272C exm1870425 16 84163268 [T/C] NM_031463,NM_001146051 HSDL1,HSDL1 EXON Missense_N260S,Missense_N205S exm1870430 16 84163700 [T/C] NM_031463,NM_001146051 HSDL1,HSDL1 EXON Missense_H186R,Missense_H131R exm1263741 16 84163916 [A/G] NM_031463,NM_001146051 HSDL1,HSDL1 EXON Missense_T114M,Silent exm1870439 16 84164737 [A/T] NM_031463,NM_001146051 HSDL1,HSDL1 EXON Nonsense_K64X,Nonsense_K64X exm1263751 16 84164829 [A/G] NM_031463,NM_001146051 HSDL1,HSDL1 EXON Missense_T33M,Missense_T33M exm1870450 16 84182628 [C/G] NM_178452 DNAAF1 EXON Missense_K47N exm1263769 16 84182710 [A/G] NM_178452 DNAAF1 EXON Missense_A75T exm1263771 16 84183898 [C/G] NM_178452 DNAAF1 EXON Missense_K101N exm1263780 16 84188191 [A/G] NM_178452 DNAAF1 EXON Missense_R121H exm1263788 16 84188350 [A/C] NM_178452 DNAAF1 EXON Missense_K174T exm1263789 16 84188375 [G/C] NM_178452 DNAAF1 EXON Missense_N182K exm1870458 16 84188384 [C/G] NM_178452 DNAAF1 EXON Missense_I185M exm1263792 16 84189232 [G/C] NM_178452 DNAAF1 EXON Missense_L207V exm1870464 16 84189262 [T/C] NM_178452 DNAAF1 EXON Nonsense_Q217X exm1263797 16 84189298 [T/C] NM_178452 DNAAF1 EXON Missense_H229Y exm1263801 16 84189349 [A/G] NM_178452 DNAAF1 EXON Missense_D246N exm1263802 16 84193280 [A/C] NM_178452 DNAAF1 EXON Missense_R248S exm1263803 16 84193281 [A/G] NM_178452 DNAAF1 EXON Missense_R248H exm1263807 16 84193318 [G/C] NM_178452 DNAAF1 EXON Missense_Q260H exm1263809 16 84193350 [A/G] NM_178452 DNAAF1 EXON Missense_R271Q exm1263816 16 84199444 [C/G] NM_178452 DNAAF1 EXON Missense_Q307E exm1263838 16 84203595 [C/G] NM_178452 DNAAF1 EXON Missense_D387E exm1263840 16 84203612 [A/G] NM_178452 DNAAF1 EXON Missense_K393R exm1263842 16 84203639 [A/T] NM_178452 DNAAF1 EXON Missense_E402V exm1263851 16 84203737 [A/G] NM_178452 DNAAF1 EXON Missense_D435N exm2225451 16 84203811 [T/C] NM_178452 DNAAF1 EXON Synonymous_D459D exm2277107 16 84203811 [A/T] NM_178452 DNAAF1 EXON Missense_D459E exm2225453 16 84203872 [A/G] NM_178452 DNAAF1 EXON Missense_K480E exm1263862 16 84203929 [A/C] NM_178452 DNAAF1 EXON Missense_P499T exm1263864 16 84203933 [G/C] NM_178452 DNAAF1 EXON Missense_P500R exm1263865 16 84203939 [T/C] NM_178452 DNAAF1 EXON Missense_P502L exm1263870 16 84205904 [A/G] NM_178452 DNAAF1 EXON Missense_V523I exm1263872 16 84205929 [T/C] NM_178452 DNAAF1 EXON Missense_T531M exm1263875 16 84205953 [T/C] NM_178452 DNAAF1 EXON Missense_L539P exm1263878 16 84205981 [T/G] NM_178452 DNAAF1 EXON Missense_D548E exm1263880 16 84208294 [T/A] NM_178452 DNAAF1 EXON Missense_D555V exm1263883 16 84208329 [A/G] NM_178452 DNAAF1 Silent exm1263891 16 84209558 [T/C] NM_178452 DNAAF1 EXON Missense_I573T exm1263895 16 84209590 [A/G] NM_178452 DNAAF1 EXON Missense_D584N exm1263897 16 84209609 [T/C] NM_178452 DNAAF1 EXON Missense_T590M exm1263900 16 84209660 [T/C] NM_178452 DNAAF1 EXON Missense_F607S exm1263908 16 84209731 [A/G] NM_178452 DNAAF1 EXON Missense_R631G exm1263910 16 84209738 [T/C] NM_178452 DNAAF1 EXON Missense_L633S exm1263913 16 84209816 [T/C] NM_178452 DNAAF1 EXON Missense_L659P exm1263915 16 84209828 [T/C] NM_178452 DNAAF1 EXON Missense_P663L exm1263920 16 84209864 [C/G] NM_178452 DNAAF1 EXON Missense_S675T exm1263924 16 84209903 [T/C] NM_178452 DNAAF1 EXON Missense_P688L exm1263934 16 84211403 [C/G] NM_178452 DNAAF1 EXON Missense_P712A exm1263946 16 84212597 [T/C] NM_001243160,NM_001243156,NM_139353,NM_001243158,NM_001243157,NM_005679,NM_001243159 TAF1C,TAF1C,TAF1C,TAF1C,TAF1C,TAF1C,TAF1C EXON Missense_V377I,Missense_V828I,Missense_V760I,Missense_V522I,Missense_V522I,Missense_V854I,Missense_V445I exm1263954 16 84212647 [T/C] NM_001243160,NM_001243156,NM_139353,NM_001243158,NM_001243157,NM_005679,NM_001243159 TAF1C,TAF1C,TAF1C,TAF1C,TAF1C,TAF1C,TAF1C EXON Missense_H360R,Missense_H811R,Missense_H743R,Missense_H505R,Missense_H505R,Missense_H837R,Missense_H428R exm1263955 16 84212653 [T/G] NM_001243160,NM_001243156,NM_139353,NM_001243158,NM_001243157,NM_005679,NM_001243159 TAF1C,TAF1C,TAF1C,TAF1C,TAF1C,TAF1C,TAF1C EXON Missense_P358H,Missense_P809H,Missense_P741H,Missense_P503H,Missense_P503H,Missense_P835H,Missense_P426H exm1263959 16 84212710 [T/C] NM_001243160,NM_001243156,NM_139353,NM_001243158,NM_001243157,NM_005679,NM_001243159 TAF1C,TAF1C,TAF1C,TAF1C,TAF1C,TAF1C,TAF1C EXON Missense_R339H,Missense_R790H,Missense_R722H,Missense_R484H,Missense_R484H,Missense_R816H,Missense_R407H exm1263961 16 84212722 [T/C] NM_001243160,NM_001243156,NM_139353,NM_001243158,NM_001243157,NM_005679,NM_001243159 TAF1C,TAF1C,TAF1C,TAF1C,TAF1C,TAF1C,TAF1C EXON Missense_R335Q,Missense_R786Q,Missense_R718Q,Missense_R480Q,Missense_R480Q,Missense_R812Q,Missense_R403Q exm1263963 16 84212729 [G/C] NM_001243160,NM_001243156,NM_139353,NM_001243158,NM_001243157,NM_005679,NM_001243159 TAF1C,TAF1C,TAF1C,TAF1C,TAF1C,TAF1C,TAF1C EXON Missense_E333Q,Missense_E784Q,Missense_E716Q,Missense_E478Q,Missense_E478Q,Missense_E810Q,Missense_E401Q exm1870512 16 84212801 [G/C] NM_001243160,NM_001243156,NM_139353,NM_001243158,NM_001243157,NM_005679,NM_001243159 TAF1C,TAF1C,TAF1C,TAF1C,TAF1C,TAF1C,TAF1C EXON Missense_L309V,Missense_L760V,Missense_L692V,Missense_L454V,Missense_L454V,Missense_L786V,Missense_L377V exm1264007 16 84213187 [A/G] NM_001243160,NM_001243156,NM_139353,NM_001243158,NM_001243157,NM_005679,NM_001243159 TAF1C,TAF1C,TAF1C,TAF1C,TAF1C,TAF1C,TAF1C EXON Missense_T180I,Missense_T631I,Missense_T563I,Missense_T325I,Missense_T325I,Missense_T657I,Missense_T248I exm1264010 16 84213211 [A/G] NM_001243160,NM_001243156,NM_139353,NM_001243158,NM_001243157,NM_005679,NM_001243159 TAF1C,TAF1C,TAF1C,TAF1C,TAF1C,TAF1C,TAF1C EXON Missense_A172V,Missense_A623V,Missense_A555V,Missense_A317V,Missense_A317V,Missense_A649V,Missense_A240V exm1264012 16 84213254 [T/C] NM_001243160,NM_001243156,NM_139353,NM_001243158,NM_001243157,NM_005679,NM_001243159 TAF1C,TAF1C,TAF1C,TAF1C,TAF1C,TAF1C,TAF1C EXON Missense_G158S,Missense_G609S,Missense_G541S,Missense_G303S,Missense_G303S,Missense_G635S,Missense_G226S exm1264015 16 84213301 [A/G] NM_001243160,NM_001243156,NM_139353,NM_001243158,NM_001243157,NM_005679,NM_001243159 TAF1C,TAF1C,TAF1C,TAF1C,TAF1C,TAF1C,TAF1C EXON Missense_P142L,Missense_P593L,Missense_P525L,Missense_P287L,Missense_P287L,Missense_P619L,Missense_P210L exm1264017 16 84213352 [T/C] NM_001243160,NM_001243156,NM_139353,NM_001243158,NM_001243157,NM_005679,NM_001243159 TAF1C,TAF1C,TAF1C,TAF1C,TAF1C,TAF1C,TAF1C EXON Missense_Q125R,Missense_Q576R,Missense_Q508R,Missense_Q270R,Missense_Q270R,Missense_Q602R,Missense_Q193R exm1264023 16 84213434 [A/T] NM_001243160,NM_001243156,NM_139353,NM_001243158,NM_001243157,NM_005679,NM_001243159 TAF1C,TAF1C,TAF1C,TAF1C,TAF1C,TAF1C,TAF1C EXON Missense_L98M,Missense_L549M,Missense_L481M,Missense_L243M,Missense_L243M,Missense_L575M,Missense_L166M exm1264033 16 84213684 [T/C] NM_001243160,NM_001243156,NM_139353,NM_001243158,NM_001243157,NM_005679,NM_001243159 TAF1C,TAF1C,TAF1C,TAF1C,TAF1C,TAF1C,TAF1C EXON Missense_G46R,Missense_G497R,Missense_G429R,Missense_G191R,Missense_G191R,Missense_G523R,Missense_G114R exm1264061 16 84215011 [A/G] NM_001243160,NM_001243156,NM_139353,NM_001243158,NM_001243157,NM_005679,NM_001243159 TAF1C,TAF1C,TAF1C,TAF1C,TAF1C,TAF1C,TAF1C EXON Silent,Missense_R363C,Missense_R296C,Missense_R57C,Missense_R57C,Missense_R389C,Silent exm1264066 16 84215029 [A/G] NM_001243160,NM_001243156,NM_139353,NM_001243158,NM_001243157,NM_005679,NM_001243159 TAF1C,TAF1C,TAF1C,TAF1C,TAF1C,TAF1C,TAF1C EXON Silent,Missense_R357W,Missense_R290W,Missense_R51W,Missense_R51W,Missense_R383W,Silent exm1264077 16 84215434 [T/C] NM_001243160,NM_001243156,NM_139353,NM_001243158,NM_001243157,NM_005679,NM_001243159 TAF1C,TAF1C,TAF1C,TAF1C,TAF1C,TAF1C,TAF1C EXON Silent,Missense_V292M,Missense_V225M,Silent,Silent,Missense_V318M,Silent exm1264078 16 84215455 [A/G] NM_001243160,NM_001243156,NM_139353,NM_001243158,NM_001243157,NM_005679,NM_001243159 TAF1C,TAF1C,TAF1C,TAF1C,TAF1C,TAF1C,TAF1C EXON Silent,Missense_R285C,Missense_R218C,Silent,Silent,Missense_R311C,Silent exm1264080 16 84215475 [A/G] NM_001243160,NM_001243156,NM_139353,NM_001243158,NM_001243157,NM_005679,NM_001243159 TAF1C,TAF1C,TAF1C,TAF1C,TAF1C,TAF1C,TAF1C EXON Silent,Silent,Silent,Silent,Silent,Missense_S304F,Silent exm1264085 16 84215557 [A/G] NM_001243160,NM_001243156,NM_139353,NM_001243158,NM_001243157,NM_005679,NM_001243159 TAF1C,TAF1C,TAF1C,TAF1C,TAF1C,TAF1C,TAF1C EXON Silent,Nonsense_Q277X,Nonsense_Q210X,Silent,Silent,Nonsense_Q277X,Silent exm1264090 16 84215634 [T/G] NM_001243160,NM_001243156,NM_139353,NM_001243158,NM_001243157,NM_005679,NM_001243159 TAF1C,TAF1C,TAF1C,TAF1C,TAF1C,TAF1C,TAF1C EXON Silent,Missense_D251A,Missense_D184A,Silent,Silent,Missense_D251A,Silent exm1264094 16 84215867 [T/C] NM_001243160,NM_001243156,NM_139353,NM_001243158,NM_001243157,NM_005679,NM_001243159 TAF1C,TAF1C,TAF1C,TAF1C,TAF1C,TAF1C,TAF1C EXON Silent,Missense_G221E,Missense_G154E,Silent,Silent,Missense_G221E,Silent exm1264095 16 84215868 [T/C] NM_001243160,NM_001243156,NM_139353,NM_001243158,NM_001243157,NM_005679,NM_001243159 TAF1C,TAF1C,TAF1C,TAF1C,TAF1C,TAF1C,TAF1C EXON Silent,Missense_G221R,Missense_G154R,Silent,Silent,Missense_G221R,Silent exm1264097 16 84215885 [A/G] NM_001243160,NM_001243156,NM_139353,NM_001243158,NM_001243157,NM_005679,NM_001243159 TAF1C,TAF1C,TAF1C,TAF1C,TAF1C,TAF1C,TAF1C EXON Silent,Missense_A215V,Missense_A148V,Silent,Silent,Missense_A215V,Silent exm1264098 16 84215886 [T/C] NM_001243160,NM_001243156,NM_139353,NM_001243158,NM_001243157,NM_005679,NM_001243159 TAF1C,TAF1C,TAF1C,TAF1C,TAF1C,TAF1C,TAF1C EXON Silent,Missense_A215T,Missense_A148T,Silent,Silent,Missense_A215T,Silent exm1870560 16 84215972 [A/C] NM_001243160,NM_001243156,NM_139353,NM_001243158,NM_001243157,NM_005679,NM_001243159 TAF1C,TAF1C,TAF1C,TAF1C,TAF1C,TAF1C,TAF1C EXON Silent,Missense_V186G,Missense_V119G,Silent,Silent,Missense_V186G,Silent exm1264107 16 84216739 [T/G] NM_001243160,NM_001243156,NM_139353,NM_001243158,NM_001243157,NM_005679,NM_001243159 TAF1C,TAF1C,TAF1C,TAF1C,TAF1C,TAF1C,TAF1C EXON Silent,Missense_K142T,Missense_K75T,Silent,Silent,Missense_K142T,Silent exm1264118 16 84217062 [T/C] NM_001243160,NM_001243156,NM_139353,NM_001243158,NM_001243157,NM_005679,NM_001243159 TAF1C,TAF1C,TAF1C,TAF1C,TAF1C,TAF1C,TAF1C EXON Silent,Missense_C91Y,Missense_C24Y,Silent,Silent,Missense_C91Y,Silent exm1264142 16 84224856 [T/G] NM_001145400,NM_139174 ADAD2,ADAD2 EXON Missense_G7V,Missense_G7V exm2274867 16 84225156 [T/C] NM_001145400,NM_139174 ADAD2,ADAD2 EXON Missense_P107L,Missense_P107L exm1264175 16 84225230 [A/C] NM_001145400,NM_139174 ADAD2,ADAD2 EXON Missense_L132I,Missense_L132I exm1264179 16 84227675 [T/G] NM_001145400,NM_139174 ADAD2,ADAD2 EXON Silent,Missense_V161G exm1264183 16 84227713 [T/C] NM_001145400,NM_139174 ADAD2,ADAD2 EXON Silent,Missense_R174C exm1264185 16 84227726 [A/G] NM_001145400,NM_139174 ADAD2,ADAD2 EXON Silent,Missense_R178K exm1264191 16 84227823 [T/G] NM_001145400,NM_139174 ADAD2,ADAD2 EXON Silent,Missense_E210D exm1264196 16 84228075 [T/C] NM_001145400,NM_139174 ADAD2,ADAD2 EXON Missense_A149V,Missense_A221V exm1870586 16 84228099 [T/C] NM_001145400,NM_139174 ADAD2,ADAD2 EXON Missense_P157L,Missense_P229L exm1264226 16 84228770 [C/G] NM_001145400,NM_139174 ADAD2,ADAD2 EXON Missense_G235R,Missense_G307R exm1264228 16 84228798 [A/G] NM_001145400,NM_139174 ADAD2,ADAD2 EXON Missense_R244K,Missense_R316K exm1264261 16 84229512 [T/G] NM_001145400,NM_139174 ADAD2,ADAD2 EXON Missense_V382L,Missense_V464L exm1264268 16 84229572 [T/C] NM_001145400,NM_139174 ADAD2,ADAD2 EXON Missense_R402C,Missense_R484C exm1264278 16 84229795 [T/A] NM_001145400,NM_139174 ADAD2,ADAD2 EXON Missense_S449C,Missense_S531C exm1264279 16 84229811 [T/G] NM_001145400,NM_139174 ADAD2,ADAD2 EXON Missense_C454F,Missense_C536F exm1264288 16 84229883 [T/C] NM_001145400,NM_139174 ADAD2,ADAD2 EXON Missense_T478I,Missense_T560I exm1264289 16 84229892 [T/C] NM_001145400,NM_139174 ADAD2,ADAD2 EXON Missense_T481I,Missense_T563I exm1264295 16 84230257 [A/G] NM_001145400,NM_139174 ADAD2,ADAD2 EXON Missense_A511T,Missense_A593T exm1264300 16 84230300 [A/G] NM_001145400,NM_139174 ADAD2,ADAD2 EXON Missense_R525Q,Missense_R607Q exm1264302 16 84230332 [A/G] NM_001145400,NM_139174 ADAD2,ADAD2 EXON Missense_K536E,Missense_K618E exm1264303 16 84230339 [A/G] NM_001145400,NM_139174 ADAD2,ADAD2 EXON Missense_Y538C,Missense_Y620C exm2267918 16 84234146 [A/G] exm1264322 16 84255963 [A/G] NM_172347 KCNG4 EXON Missense_R474C exm1264324 16 84256004 [G/C] NM_172347 KCNG4 EXON Missense_S460C exm1870641 16 84256006 [T/G] NM_172347 KCNG4 EXON Missense_H459Q exm1264326 16 84256026 [T/C] NM_172347 KCNG4 EXON Missense_I453V exm1264334 16 84256103 [T/C] NM_172347 KCNG4 EXON Missense_R427H exm1264341 16 84256130 [A/G] NM_172347 KCNG4 EXON Missense_T418M exm2252781 16 84256201 [T/C] NM_172347 KCNG4 EXON Synonymous_K394K exm1264348 16 84256269 [T/C] NM_172347 KCNG4 EXON Missense_G372S exm1264365 16 84256422 [T/C] NM_172347 KCNG4 EXON Missense_E321K exm1264377 16 84256544 [T/C] NM_172347 KCNG4 EXON Missense_R280Q exm1264378 16 84256578 [A/G] NM_172347 KCNG4 EXON Missense_C269R exm1870648 16 84256605 [A/G] NM_172347 KCNG4 EXON Missense_Y260H exm1264381 16 84256619 [T/C] NM_172347 KCNG4 EXON Missense_C255Y exm1264389 16 84270386 [T/C] NM_172347 KCNG4 EXON Missense_V236I exm1264393 16 84270434 [T/C] NM_172347 KCNG4 EXON Missense_G220R exm1264397 16 84270476 [A/G] NM_172347 KCNG4 EXON Missense_R206W exm1264398 16 84270490 [T/C] NM_172347 KCNG4 EXON Missense_G201D exm1264409 16 84270650 [T/C] NM_172347 KCNG4 EXON Missense_A148T exm1264413 16 84270674 [T/C] NM_172347 KCNG4 EXON Missense_A140T exm1264421 16 84270743 [A/G] NM_172347 KCNG4 EXON Missense_P117S exm1264423 16 84270817 [T/C] NM_172347 KCNG4 EXON Missense_R92Q exm1264425 16 84270850 [A/G] NM_172347 KCNG4 EXON Missense_P81L exm1264426 16 84270856 [T/C] NM_172347 KCNG4 EXON Missense_R79Q exm1264428 16 84270890 [T/C] NM_172347 KCNG4 EXON Missense_R68G exm1264431 16 84270919 [T/C] NM_172347 KCNG4 EXON Missense_K58R exm1264433 16 84270958 [T/C] NM_172347 KCNG4 EXON Missense_R45Q exm1264443 16 84271070 [A/C] NM_172347 KCNG4 EXON Missense_G8W exm1264449 16 84328590 [A/G] NM_021197 WFDC1 EXON Missense_G5S exm1264450 16 84328593 [A/G] NM_021197 WFDC1 EXON Missense_V6M exm1264453 16 84328626 [T/C] NM_021197 WFDC1 EXON Missense_R17W exm1264456 16 84328659 [A/G] NM_021197 WFDC1 EXON Missense_A28T exm1264464 16 84346747 [T/C] NM_021197 WFDC1 EXON Missense_P109S exm1264469 16 84351893 [T/G] NM_021197 WFDC1 EXON Missense_V118G exm1264475 16 84351952 [A/G] NM_021197 WFDC1 EXON Missense_V138M exm1264478 16 84353055 [T/C] NM_021197 WFDC1 EXON Missense_T147M exm1264480 16 84353114 [A/C] NM_021197 WFDC1 EXON Missense_P167T exm1264482 16 84353123 [A/G] NM_021197 WFDC1 EXON Missense_V170M exm1264486 16 84353156 [A/G] NM_021197 WFDC1 EXON Missense_V181I exm1264488 16 84353166 [A/G] NM_021197 WFDC1 EXON Missense_R184H exm1264489 16 84353177 [A/G] NM_021197 WFDC1 EXON Missense_D188N exm1264491 16 84358031 [A/G] NM_021197 WFDC1 EXON Missense_R190Q exm1264492 16 84358039 [T/C] NM_021197 WFDC1 EXON Nonsense_R193X exm1264493 16 84358048 [G/C] NM_021197 WFDC1 EXON Missense_L196V exm1264499 16 84360533 [A/G] NM_021197 WFDC1 EXON Missense_K217R exm-IND16-82996056 16 84438556 [D/I] NM_014861 ATP2C2 exm1264523 16 84438759 [T/A] NM_014861 ATP2C2 EXON Missense_E79V exm1264525 16 84438771 [T/C] NM_014861 ATP2C2 EXON Missense_T83M exm1870728 16 84438779 [A/C] NM_014861 ATP2C2 EXON Synonymous_R86R exm1264531 16 84438827 [A/G] NM_014861 ATP2C2 EXON Missense_V102M exm1264541 16 84442095 [A/G] NM_014861 ATP2C2 EXON Missense_A138T exm1870743 16 84444206 [C/G] NM_014861 ATP2C2 EXON Missense_I150M exm1264550 16 84444349 [A/C] NM_014861 ATP2C2 EXON Missense_M165L exm-rs10514604 16 84446384 [G/C] NM_014861 ATP2C2 Silent exm1264556 16 84449162 [A/G] NM_014861 ATP2C2 EXON Missense_G197R exm1264564 16 84456000 [T/C] NM_014861 ATP2C2 EXON Missense_T210M exm1264566 16 84456014 [T/G] NM_014861 ATP2C2 EXON Missense_D215Y exm1264568 16 84456032 [T/G] NM_014861 ATP2C2 EXON Missense_G221W exm1264578 16 84456138 [A/G] NM_014861 ATP2C2 EXON Missense_R256K exm1264584 16 84456271 [A/G] NM_014861 ATP2C2 EXON Missense_G271R exm1264586 16 84456792 [A/T] NM_014861 ATP2C2 Silent exm1264587 16 84456800 [A/G] NM_014861 ATP2C2 EXON Missense_K284E exm1264593 16 84459376 [C/G] NM_014861 ATP2C2 EXON Missense_Q319E exm1264599 16 84459400 [A/G] NM_014861 ATP2C2 EXON Missense_G327R exm1264617 16 84472858 [A/G] NM_014861 ATP2C2 EXON Missense_R358Q exm1264621 16 84473044 [A/G] NM_014861 ATP2C2 EXON Missense_V375I exm1264624 16 84473081 [A/G] NM_014861 ATP2C2 EXON Missense_N387S exm1264626 16 84473098 [G/C] NM_014861 ATP2C2 EXON Missense_Q393E exm1264630 16 84473123 [A/G] NM_014861 ATP2C2 EXON Missense_R401H exm1264633 16 84474467 [T/G] NM_014861 ATP2C2 EXON Missense_S405I exm1264635 16 84474484 [A/G] NM_014861 ATP2C2 EXON Missense_G411S exm1264646 16 84476150 [A/G] NM_014861 ATP2C2 EXON Missense_K449R exm1264651 16 84476200 [T/A] NM_014861 ATP2C2 EXON Missense_M466L exm1264656 16 84479951 [T/C] NM_014861 ATP2C2 EXON Missense_I473T exm1264683 16 84485547 [A/C] NM_014861 ATP2C2 EXON Missense_P561T exm1264685 16 84485550 [A/G] NM_014861 ATP2C2 EXON Missense_E562K exm1264692 16 84485610 [A/G] NM_014861 ATP2C2 EXON Missense_V582M exm1264696 16 84485652 [G/C] NM_014861 ATP2C2 EXON Missense_V596L exm1264699 16 84485677 [T/A] NM_014861 ATP2C2 EXON Missense_L604Q exm1264712 16 84486833 [A/G] NM_014861 ATP2C2 EXON Missense_V641M exm1264737 16 84488530 [T/C] NM_014861 ATP2C2 EXON Missense_T696M exm2252782 16 84492891 [A/G] NM_014861 ATP2C2 EXON Synonymous_L744L exm1264755 16 84492983 [A/C] NM_014861 ATP2C2 EXON Missense_P775Q exm1264765 16 84494264 [T/G] NM_014861 ATP2C2 EXON Missense_G780W exm1264772 16 84494307 [A/G] NM_014861 ATP2C2 EXON Missense_R794Q exm1264773 16 84494310 [G/C] NM_014861 ATP2C2 EXON Missense_S795T exm1264774 16 84494315 [T/C] NM_014861 ATP2C2 EXON Missense_R797W exm1264777 16 84494340 [T/G] NM_014861 ATP2C2 EXON Missense_L805R exm1264786 16 84495318 [A/C] NM_014861 ATP2C2 Silent exm1264793 16 84495377 [C/G] NM_014861 ATP2C2 EXON Missense_V847L exm1264806 16 84495635 [A/G] NM_014861 ATP2C2 EXON Missense_M874I exm1264809 16 84495648 [A/G] NM_014861 ATP2C2 EXON Missense_V879I exm1264815 16 84495694 [T/C] NM_014861 ATP2C2 EXON Missense_P894L exm1264819 16 84495704 [G/C] NM_014861 ATP2C2 EXON Missense_R897S exm1264821 16 84495715 [T/C] NM_014861 ATP2C2 EXON Missense_T901M exm1264824 16 84495733 [T/C] NM_014861 ATP2C2 EXON Missense_L907P exm1264838 16 84497310 [C/G] NM_014861 ATP2C2 EXON Missense_R938T exm1264854 16 84513560 [A/G] NM_020947 KIAA1609 EXON Missense_R444C exm1264855 16 84513562 [A/G] NM_020947 KIAA1609 EXON Missense_S443L exm1870869 16 84513577 [T/C] NM_020947 KIAA1609 EXON Missense_E438G exm1264856 16 84513578 [C/G] NM_020947 KIAA1609 EXON Missense_E438Q exm1264858 16 84513588 [G/C] NM_020947 KIAA1609 EXON Missense_Q434H exm1264859 16 84513589 [T/C] NM_020947 KIAA1609 EXON Missense_Q434R exm1264867 16 84514151 [A/G] NM_020947 KIAA1609 EXON Missense_P414L exm1264873 16 84514205 [A/G] NM_020947 KIAA1609 EXON Missense_S396L exm1870876 16 84514305 [C/G] NM_020947 KIAA1609 EXON Missense_G363R exm1264884 16 84516214 [A/G] NM_020947 KIAA1609 EXON Missense_T354M exm1264886 16 84516227 [A/G] NM_020947 KIAA1609 EXON Missense_H350Y exm1264900 16 84520305 [T/C] NM_020947 KIAA1609 EXON Missense_E297G exm1264902 16 84520309 [C/G] NM_020947 KIAA1609 EXON Missense_L296V exm1264906 16 84520330 [A/G] NM_020947 KIAA1609 EXON Missense_R289W exm1264912 16 84520396 [A/G] NM_020947 KIAA1609 EXON Missense_C267R exm1264918 16 84520428 [G/C] NM_020947 KIAA1609 EXON Missense_A256G exm1264920 16 84520450 [C/G] NM_020947 KIAA1609 EXON Missense_L249V exm1264925 16 84520479 [T/C] NM_020947 KIAA1609 EXON Missense_G239D exm1264928 16 84520495 [A/G] NM_020947 KIAA1609 EXON Missense_R234C exm1264929 16 84520496 [G/C] NM_020947 KIAA1609 EXON Missense_E233D exm1264930 16 84520506 [A/G] NM_020947 KIAA1609 EXON Missense_L230P exm1264935 16 84520537 [T/C] NM_020947 KIAA1609 EXON Missense_I220V exm1264938 16 84520571 [T/C] NM_020947 KIAA1609 EXON Missense_I208M exm1264947 16 84522890 [C/G] NM_020947 KIAA1609 EXON Missense_L175V exm1264949 16 84522897 [C/G] NM_020947 KIAA1609 EXON Missense_D172E exm1264955 16 84522937 [T/C] NM_020947 KIAA1609 EXON Missense_N159S exm1264961 16 84523025 [T/C] NM_020947 KIAA1609 EXON Missense_T130A exm1264968 16 84529382 [G/C] NM_020947 KIAA1609 EXON Missense_H97Q exm1264969 16 84529387 [A/C] NM_020947 KIAA1609 EXON Missense_S96A exm1264978 16 84529462 [A/G] NM_020947 KIAA1609 EXON Missense_R71W exm1264982 16 84529497 [A/G] NM_020947 KIAA1609 EXON Missense_P59L exm1264985 16 84529519 [T/C] NM_020947 KIAA1609 EXON Missense_N52D exm1264988 16 84531559 [A/G] NM_020947 KIAA1609 EXON Missense_F45S exm1264989 16 84531562 [A/G] NM_020947 KIAA1609 EXON Missense_S44F exm1264990 16 84531577 [T/C] NM_020947 KIAA1609 EXON Missense_N39S exm1264992 16 84531617 [A/G] NM_020947 KIAA1609 EXON Nonsense_Q26X exm1264993 16 84531621 [A/C] NM_020947 KIAA1609 EXON Missense_I24M exm1264999 16 84531664 [A/C] NM_020947 KIAA1609 EXON Missense_R10L exm-rs11866096 16 84555319 [T/C] exm-rs371915 16 84578241 [A/G] exm1265033 16 84651112 [A/C] NM_021149 COTL1 EXON Missense_C52F exm1265036 16 84651172 [T/G] NM_021149 COTL1 EXON Missense_D32A exm1265040 16 84684525 [A/G] NM_024731 KLHL36 EXON Missense_E18K exm-rs11647936 16 84685509 [A/T] NM_024731 KLHL36 Silent exm1265068 16 84690802 [T/C] NM_024731 KLHL36 EXON Missense_T130M exm1265070 16 84690864 [G/C] NM_024731 KLHL36 EXON Missense_L151V exm1265095 16 84691195 [T/C] NM_024731 KLHL36 EXON Missense_A261V exm1265106 16 84691329 [G/C] NM_024731 KLHL36 EXON Missense_E306Q exm1265118 16 84691434 [A/G] NM_024731 KLHL36 EXON Missense_A341T exm1265159 16 84695528 [A/G] NM_024731 KLHL36 EXON Missense_R547H exm1265177 16 84767092 [C/G] NM_001272075,NM_005153,NR_073577,NR_073578 USP10,USP10,USP10,USP10 EXON Missense_P29A,Missense_P25A,Silent,Silent exm1265187 16 84778401 [G/C] NM_001272075,NM_005153,NR_073577,NR_073578 USP10,USP10,USP10,USP10 EXON Missense_T109S,Missense_T105S,Silent,Silent exm1265247 16 84779261 [T/G] NM_001272075,NM_005153,NR_073577,NR_073578 USP10,USP10,USP10,USP10 EXON Missense_V396L,Missense_V392L,Silent,Silent exm1265257 16 84793502 [A/G] NM_001272075,NM_005153,NR_073577,NR_073578 USP10,USP10,USP10,USP10 EXON Missense_R471Q,Missense_R467Q,Silent,Silent exm1265285 16 84801966 [T/C] NM_001272075,NM_005153,NR_073577,NR_073578 USP10,USP10,USP10,USP10 Silent,Silent,Silent,Silent exm1871030 16 84806171 [C/G] NM_001272075,NM_005153,NR_073577,NR_073578 USP10,USP10,USP10,USP10 EXON Missense_L679V,Missense_L675V,Silent,Silent exm2225483 16 84812528 [T/C] NM_001272075,NM_005153,NR_073577,NR_073578 USP10,USP10,USP10,USP10 EXON Missense_T750M,Missense_T746M,Silent,Silent exm1871050 16 84872225 [A/G] NM_031476 CRISPLD2 EXON Missense_E42K exm1265318 16 84879464 [A/G] NM_031476 CRISPLD2 EXON Missense_S105G exm1265328 16 84883053 [T/C] NM_031476 CRISPLD2 EXON Missense_P141L exm1265329 16 84883063 [A/C] NM_031476 CRISPLD2 EXON Missense_S144R exm1265332 16 84883109 [A/C] NM_031476 CRISPLD2 EXON Missense_T160P exm1265354 16 84900577 [G/C] NM_031476 CRISPLD2 EXON Missense_H262D exm1265356 16 84900585 [T/G] NM_031476 CRISPLD2 EXON Missense_W264C exm1265358 16 84900601 [A/G] NM_031476 CRISPLD2 EXON Missense_M270V exm1265362 16 84900645 [A/G] NM_031476 CRISPLD2 EXON Missense_M284I exm1265364 16 84902472 [A/G] NM_031476 CRISPLD2 EXON Missense_C290Y exm1265365 16 84902483 [T/A] NM_031476 CRISPLD2 EXON Missense_M294L exm1265371 16 84906083 [T/C] NM_031476 CRISPLD2 EXON Missense_A317V exm1265374 16 84906098 [C/G] NM_031476 CRISPLD2 EXON Missense_T322S exm1871098 16 84906114 [T/C] NM_031476 CRISPLD2 EXON Synonymous_S327S exm1265379 16 84906616 [A/G] NM_031476 CRISPLD2 EXON Missense_A334T exm1265387 16 84906707 [A/G] NM_031476 CRISPLD2 EXON Missense_R364K exm1265396 16 84907551 [A/G] NM_031476 CRISPLD2 EXON Missense_M380V exm1265413 16 84914177 [A/G] NM_031476 CRISPLD2 EXON Missense_N431S exm1265415 16 84914186 [G/C] NM_031476 CRISPLD2 EXON Missense_A434G exm1265424 16 84922965 [A/G] NM_031476 CRISPLD2 EXON Missense_E479K exm-rs2326458 16 84987679 [A/C] exm1265464 16 85015535 [T/A] NM_017740,NM_001145548 ZDHHC7,ZDHHC7 EXON Missense_E127D,Missense_E164D exm1265469 16 85022409 [A/C] NM_017740,NM_001145548 ZDHHC7,ZDHHC7 EXON Silent,Missense_I129S exm1871149 16 85024128 [T/C] NM_017740,NM_001145548 ZDHHC7,ZDHHC7 EXON Missense_A33T,Missense_A33T exm1265500 16 85100762 [T/C] NM_014732 KIAA0513 EXON Missense_P29S exm1265502 16 85100777 [A/G] NM_014732 KIAA0513 EXON Missense_G34S exm1265506 16 85100796 [A/G] NM_014732 KIAA0513 EXON Missense_D40G exm1265517 16 85100919 [A/T] NM_014732 KIAA0513 EXON Missense_N81I exm1265526 16 85105391 [A/G] NM_014732 KIAA0513 EXON Missense_E111G exm1265535 16 85109518 [T/C] NM_014732 KIAA0513 EXON Missense_I191T exm1265537 16 85111060 [T/C] NM_014732 KIAA0513 EXON Missense_R202W exm1265541 16 85111141 [T/C] NM_014732 KIAA0513 EXON Missense_R229W exm1265553 16 85112049 [T/C] NM_014732 KIAA0513 EXON Missense_R271W exm2267961 16 85112967 [A/G] NM_014732 KIAA0513 Silent exm1265569 16 85120296 [T/C] NM_014732 KIAA0513 EXON Missense_R353W exm1265592 16 85132838 [T/C] NM_198491 FAM92B EXON Missense_V290M exm1265594 16 85132883 [A/C] NM_198491 FAM92B EXON Missense_F275V exm1265598 16 85133785 [G/C] NM_198491 FAM92B EXON Missense_T238S exm1265601 16 85133830 [T/A] NM_198491 FAM92B EXON Missense_M223K exm1265604 16 85135838 [G/C] NM_198491 FAM92B EXON Missense_D211E exm1265607 16 85135858 [A/G] NM_198491 FAM92B EXON Nonsense_Q205X exm2252785 16 85138942 [T/C] NM_198491 FAM92B EXON Synonymous_K176K exm1265625 16 85141504 [A/C] NM_198491 FAM92B EXON Missense_L125R exm1265632 16 85141645 [C/G] NM_198491 FAM92B EXON Missense_Q106E exm1265636 16 85141704 [A/G] NM_198491 FAM92B EXON Missense_V86A exm1265649 16 85143924 [T/C] NM_198491 FAM92B EXON Missense_D55N exm1265652 16 85143960 [A/G] NM_198491 FAM92B EXON Missense_R43W exm1265659 16 85144010 [T/C] NM_198491 FAM92B EXON Missense_G26E exm1265660 16 85144023 [T/C] NM_198491 FAM92B EXON Missense_E22K exm2272408 16 85266264 [T/C] exm-rs4783192 16 85420064 [T/G] exm1265672 16 85667528 [T/C] NM_001134473,NM_014615 GSE1,GSE1 EXON Silent,Missense_H6Y exm1265676 16 85667558 [T/C] NM_001134473,NM_014615 GSE1,GSE1 EXON Silent,Missense_L16F exm1265678 16 85667567 [A/G] NM_001134473,NM_014615 GSE1,GSE1 EXON Silent,Missense_A19T exm1265679 16 85667568 [T/C] NM_001134473,NM_014615 GSE1,GSE1 EXON Silent,Missense_A19V exm1265718 16 85687906 [A/G] NM_001134473,NM_014615 GSE1,GSE1 EXON Missense_S46N,Missense_S150N exm2252789 16 85687931 [A/G] NM_001134473,NM_014615 GSE1,GSE1 EXON Synonymous_V54V,Synonymous_V158V exm1265739 16 85688434 [T/A] NM_001134473,NM_014615 GSE1,GSE1 EXON Missense_S108C,Missense_S212C exm2252790 16 85688484 [A/C] NM_001134473,NM_014615 GSE1,GSE1 EXON Synonymous_T124T,Synonymous_T228T exm1265745 16 85688484 [A/C] NM_001134473,NM_014615 GSE1,GSE1 EXON Synonymous_T124T,Synonymous_T228T exm1265749 16 85688513 [T/C] NM_001134473,NM_014615 GSE1,GSE1 EXON Missense_P134L,Missense_P238L exm1265770 16 85689484 [T/C] NM_001134473,NM_014615 GSE1,GSE1 EXON Missense_A213V,Missense_A317V exm1265773 16 85689510 [T/C] NM_001134473,NM_014615 GSE1,GSE1 EXON Missense_L222F,Missense_L326F exm1265779 16 85689998 [T/C] NM_001134473,NM_014615 GSE1,GSE1 EXON Missense_R243C,Missense_R347C exm1265783 16 85690010 [G/C] NM_001134473,NM_014615 GSE1,GSE1 EXON Missense_R247G,Missense_R351G exm1265805 16 85690900 [A/G] NM_001134473,NM_014615 GSE1,GSE1 EXON Missense_G340S,Missense_G444S exm1265809 16 85690931 [T/C] NM_001134473,NM_014615 GSE1,GSE1 EXON Missense_P350L,Missense_P454L exm1265830 16 85694784 [A/G] NM_001134473,NM_014615 GSE1,GSE1 EXON Missense_R454H,Missense_R558H exm1265831 16 85694849 [A/G] NM_001134473,NM_014615 GSE1,GSE1 EXON Missense_A476T,Missense_A580T exm1265837 16 85694934 [A/T] NM_001134473,NM_014615 GSE1,GSE1 EXON Missense_H504L,Missense_H608L exm1265848 16 85695014 [C/G] NM_001134473,NM_014615 GSE1,GSE1 EXON Missense_E531Q,Missense_E635Q exm1265853 16 85695077 [A/C] NM_001134473,NM_014615 GSE1,GSE1 EXON Missense_P552T,Missense_P656T exm1265854 16 85695078 [T/C] NM_001134473,NM_014615 GSE1,GSE1 EXON Missense_P552L,Missense_P656L exm1265860 16 85695129 [T/C] NM_001134473,NM_014615 GSE1,GSE1 EXON Missense_P569L,Missense_P673L exm1265870 16 85695279 [T/C] NM_001134473,NM_014615 GSE1,GSE1 EXON Missense_A619V,Missense_A723V exm1265881 16 85696635 [T/A] NM_001134473,NM_014615 GSE1,GSE1 EXON Missense_E666V,Missense_E770V exm1265886 16 85696689 [T/C] NM_001134473,NM_014615 GSE1,GSE1 EXON Missense_T684M,Missense_T788M exm1265895 16 85697019 [T/C] NM_001134473,NM_014615 GSE1,GSE1 EXON Missense_R711W,Missense_R815W exm1265896 16 85697020 [A/G] NM_001134473,NM_014615 GSE1,GSE1 EXON Missense_R711Q,Missense_R815Q exm1265897 16 85697023 [A/G] NM_001134473,NM_014615 GSE1,GSE1 EXON Missense_R712K,Missense_R816K exm2274868 16 85697098 [C/G] NM_001134473,NM_014615 GSE1,GSE1 EXON Missense_P737R,Missense_P841R exm2225496 16 85697156 [C/G] NM_001134473,NM_014615 GSE1,GSE1 EXON Missense_F756L,Missense_F860L exm1265934 16 85699680 [A/G] NM_001134473,NM_014615 GSE1,GSE1 EXON Missense_E849K,Missense_E953K exm1265935 16 85699690 [A/G] NM_001134473,NM_014615 GSE1,GSE1 EXON Missense_R852Q,Missense_R956Q exm1265940 16 85699755 [A/G] NM_001134473,NM_014615 GSE1,GSE1 EXON Missense_E874K,Missense_E978K exm1265947 16 85699831 [T/C] NM_001134473,NM_014615 GSE1,GSE1 EXON Missense_P899L,Missense_P1003L exm1265952 16 85699914 [C/G] NM_001134473,NM_014615 GSE1,GSE1 EXON Missense_V927L,Missense_V1031L exm1265960 16 85701796 [A/G] NM_001134473,NM_014615 GSE1,GSE1 EXON Missense_V957I,Missense_V1061I exm1265966 16 85701838 [T/C] NM_001134473,NM_014615 GSE1,GSE1 EXON Missense_P971S,Missense_P1075S exm2276470 16 85701939 [T/C] NM_001134473,NM_014615 GSE1,GSE1 EXON Synonymous_D1004D,Synonymous_D1108D exm1265979 16 85702029 [A/C] NM_001134473,NM_014615 GSE1,GSE1 EXON Missense_E1034D,Missense_E1138D exm1265985 16 85704622 [T/G] NM_001134473,NM_014615 GSE1,GSE1 EXON Missense_V1042G,Missense_V1146G exm1266005 16 85706109 [A/C] NM_001134473,NM_014615 GSE1,GSE1 EXON Missense_H1102Q,Missense_H1206Q exm2274869 16 85711861 [A/G] NM_016095 GINS2 EXON Missense_T172M exm1266018 16 85711880 [A/G] NM_016095 GINS2 EXON Missense_H166Y exm1266022 16 85711915 [T/G] NM_016095 GINS2 EXON Missense_N154T exm1266023 16 85711927 [A/G] NM_016095 GINS2 EXON Missense_L150S exm1266037 16 85712245 [G/C] NM_016095 GINS2 EXON Missense_D111E exm1266043 16 85721146 [A/G] NM_016095 GINS2 EXON Missense_V42A exm1266065 16 85743805 [A/G] NM_206967 C16orf74 EXON Missense_T46M exm1266074 16 85743906 [A/T] NM_206967 C16orf74 EXON Missense_Q12H exm1266101 16 85814045 [A/G] NM_001142288,NM_006067 EMC8,EMC8 EXON Silent,Missense_A138V exm1266107 16 85814834 [T/C] NM_001142288,NM_006067 EMC8,EMC8 EXON Missense_D121N,Missense_D121N exm1266123 16 85834818 [A/G] NM_001861 COX4I1 EXON Missense_A3T exm1266125 16 85834876 [A/G] NM_001861 COX4I1 EXON Missense_R22Q exm1266128 16 85838545 [A/G] NM_001861 COX4I1 EXON Missense_S26G exm1266133 16 85838591 [A/G] NM_001861 COX4I1 EXON Missense_R41Q exm1266141 16 85838709 [G/C] NM_001861 COX4I1 EXON Missense_E80D exm1266166 16 85942643 [A/C] NM_002163 IRF8 EXON Missense_E74D exm1266167 16 85942708 [T/C] NM_002163 IRF8 EXON Missense_T96M exm-rs391525 16 85944439 [A/G] NM_002163 IRF8 Silent exm1266175 16 85945187 [A/G] NM_002163 IRF8 EXON Missense_V124M exm1266179 16 85945232 [A/G] NM_002163 IRF8 EXON Missense_G139S exm1266186 16 85946786 [T/C] NM_002163 IRF8 EXON Missense_P166L exm1266214 16 85952280 [A/G] NM_002163 IRF8 EXON Missense_V287M exm1266221 16 85952403 [T/G] NM_002163 IRF8 EXON Missense_F328V exm-rs305061 16 85975659 [T/C] exm-rs11642873 16 85991705 [A/C] exm2272409 16 86008641 [T/C] exm-rs16940202 16 86014241 [T/C] exm-rs11117432 16 86019271 [A/G] exm-rs11862671 16 86074916 [A/C] exm2260607 16 86233398 [A/G] exm-rs2696835 16 86365571 [C/G] NR_024406 LOC732275 EXON Silent exm1266247 16 86544521 [T/C] NM_001451 FOXF1 EXON Missense_P116S exm1266253 16 86544651 [A/G] NM_001451 FOXF1 EXON Missense_N159S exm1266264 16 86545002 [T/C] NM_001451 FOXF1 EXON Missense_A276V exm1266267 16 86545083 [A/G] NM_001451 FOXF1 EXON Missense_S303N exm1266278 16 86546629 [A/G] NM_001451 FOXF1 EXON Missense_G360S exm1266297 16 86565823 [C/G] NR_027490,NM_001159377,NM_001159379,NM_001159380,NM_022764,NR_027489,NM_001159378 MTHFSD,MTHFSD,MTHFSD,MTHFSD,MTHFSD,MTHFSD,MTHFSD EXON Silent,Missense_D316H,Missense_D315H,Missense_D296H,Missense_D315H,Silent,Missense_D316H exm1266299 16 86565826 [C/G] NR_027490,NM_001159377,NM_001159379,NM_001159380,NM_022764,NR_027489,NM_001159378 MTHFSD,MTHFSD,MTHFSD,MTHFSD,MTHFSD,MTHFSD,MTHFSD EXON Silent,Missense_G315R,Missense_G314R,Missense_G295R,Missense_G314R,Silent,Missense_G315R exm1266300 16 86565832 [C/G] NR_027490,NM_001159377,NM_001159379,NM_001159380,NM_022764,NR_027489,NM_001159378 MTHFSD,MTHFSD,MTHFSD,MTHFSD,MTHFSD,MTHFSD,MTHFSD EXON Silent,Missense_L313V,Missense_L312V,Missense_L293V,Missense_L312V,Silent,Missense_L313V exm1266302 16 86565838 [T/C] NR_027490,NM_001159377,NM_001159379,NM_001159380,NM_022764,NR_027489,NM_001159378 MTHFSD,MTHFSD,MTHFSD,MTHFSD,MTHFSD,MTHFSD,MTHFSD EXON Silent,Missense_G311R,Missense_G310R,Missense_G291R,Missense_G310R,Silent,Missense_G311R exm1266305 16 86565874 [A/C] NR_027490,NM_001159377,NM_001159379,NM_001159380,NM_022764,NR_027489,NM_001159378 MTHFSD,MTHFSD,MTHFSD,MTHFSD,MTHFSD,MTHFSD,MTHFSD EXON Silent,Missense_G299W,Missense_G298W,Missense_G279W,Missense_G298W,Silent,Missense_G299W exm1266307 16 86565882 [G/C] NR_027490,NM_001159377,NM_001159379,NM_001159380,NM_022764,NR_027489,NM_001159378 MTHFSD,MTHFSD,MTHFSD,MTHFSD,MTHFSD,MTHFSD,MTHFSD EXON Silent,Missense_S296C,Missense_S295C,Missense_S276C,Missense_S295C,Silent,Missense_S296C exm1266312 16 86565964 [C/G] NR_027490,NM_001159377,NM_001159379,NM_001159380,NM_022764,NR_027489,NM_001159378 MTHFSD,MTHFSD,MTHFSD,MTHFSD,MTHFSD,MTHFSD,MTHFSD EXON Silent,Missense_Q269E,Missense_Q268E,Missense_Q249E,Missense_Q268E,Silent,Missense_Q269E exm1266314 16 86566035 [T/C] NR_027490,NM_001159377,NM_001159379,NM_001159380,NM_022764,NR_027489,NM_001159378 MTHFSD,MTHFSD,MTHFSD,MTHFSD,MTHFSD,MTHFSD,MTHFSD EXON Silent,Missense_R245Q,Missense_R244Q,Missense_R225Q,Missense_R244Q,Silent,Missense_R245Q exm1266315 16 86566039 [T/C] NR_027490,NM_001159377,NM_001159379,NM_001159380,NM_022764,NR_027489,NM_001159378 MTHFSD,MTHFSD,MTHFSD,MTHFSD,MTHFSD,MTHFSD,MTHFSD EXON Silent,Missense_A244T,Missense_A243T,Missense_A224T,Missense_A243T,Silent,Missense_A244T exm1266316 16 86566042 [A/G] NR_027490,NM_001159377,NM_001159379,NM_001159380,NM_022764,NR_027489,NM_001159378 MTHFSD,MTHFSD,MTHFSD,MTHFSD,MTHFSD,MTHFSD,MTHFSD EXON Silent,Missense_R243C,Missense_R242C,Missense_R223C,Missense_R242C,Silent,Missense_R243C exm1871505 16 86575326 [A/G] NR_027490,NM_001159377,NM_001159379,NM_001159380,NM_022764,NR_027489,NM_001159378 MTHFSD,MTHFSD,MTHFSD,MTHFSD,MTHFSD,MTHFSD,MTHFSD EXON Silent,Missense_P220S,Missense_P219S,Missense_P200S,Missense_P219S,Silent,Missense_P220S exm1266324 16 86575380 [C/G] NR_027490,NM_001159377,NM_001159379,NM_001159380,NM_022764,NR_027489,NM_001159378 MTHFSD,MTHFSD,MTHFSD,MTHFSD,MTHFSD,MTHFSD,MTHFSD EXON Silent,Missense_D202H,Missense_D201H,Missense_D182H,Missense_D201H,Silent,Missense_D202H exm1266325 16 86575385 [T/G] NR_027490,NM_001159377,NM_001159379,NM_001159380,NM_022764,NR_027489,NM_001159378 MTHFSD,MTHFSD,MTHFSD,MTHFSD,MTHFSD,MTHFSD,MTHFSD EXON Silent,Missense_T200N,Missense_T199N,Missense_T180N,Missense_T199N,Silent,Missense_T200N exm1266329 16 86575715 [T/C] NR_027490,NM_001159377,NM_001159379,NM_001159380,NM_022764,NR_027489,NM_001159378 MTHFSD,MTHFSD,MTHFSD,MTHFSD,MTHFSD,MTHFSD,MTHFSD EXON Silent,Missense_D183N,Missense_D182N,Missense_D163N,Missense_D182N,Silent,Missense_D183N exm1266330 16 86575735 [A/G] NR_027490,NM_001159377,NM_001159379,NM_001159380,NM_022764,NR_027489,NM_001159378 MTHFSD,MTHFSD,MTHFSD,MTHFSD,MTHFSD,MTHFSD,MTHFSD EXON Silent,Missense_P176L,Missense_P175L,Missense_P156L,Missense_P175L,Silent,Missense_P176L exm2252794 16 86575737 [T/C] NR_027490,NM_001159377,NM_001159379,NM_001159380,NM_022764,NR_027489,NM_001159378 MTHFSD,MTHFSD,MTHFSD,MTHFSD,MTHFSD,MTHFSD,MTHFSD EXON Silent,Synonymous_T175T,Synonymous_T174T,Synonymous_T155T,Synonymous_T174T,Silent,Synonymous_T175T exm1871510 16 86575767 [T/C] NR_027490,NM_001159377,NM_001159379,NM_001159380,NM_022764,NR_027489,NM_001159378 MTHFSD,MTHFSD,MTHFSD,MTHFSD,MTHFSD,MTHFSD,MTHFSD EXON Silent,Missense_M165I,Missense_M164I,Missense_M145I,Missense_M164I,Silent,Missense_M165I exm1266334 16 86575777 [T/C] NR_027490,NM_001159377,NM_001159379,NM_001159380,NM_022764,NR_027489,NM_001159378 MTHFSD,MTHFSD,MTHFSD,MTHFSD,MTHFSD,MTHFSD,MTHFSD EXON Silent,Missense_Y162C,Missense_Y161C,Missense_Y142C,Missense_Y161C,Silent,Missense_Y162C exm1266342 16 86580242 [T/C] NR_027490,NM_001159377,NM_001159379,NM_001159380,NM_022764,NR_027489,NM_001159378 MTHFSD,MTHFSD,MTHFSD,MTHFSD,MTHFSD,MTHFSD,MTHFSD EXON Silent,Missense_Y122C,Missense_Y121C,Missense_Y102C,Missense_Y121C,Silent,Missense_Y122C exm1266348 16 86582159 [T/C] NR_027490,NM_001159377,NM_001159379,NM_001159380,NM_022764,NR_027489,NM_001159378 MTHFSD,MTHFSD,MTHFSD,MTHFSD,MTHFSD,MTHFSD,MTHFSD EXON Silent,Missense_T88A,Missense_T87A,Missense_T68A,Missense_T87A,Silent,Missense_T88A exm1266359 16 86588249 [A/G] NR_027490,NM_001159377,NM_001159379,NM_001159380,NM_022764,NR_027489,NM_001159378 MTHFSD,MTHFSD,MTHFSD,MTHFSD,MTHFSD,MTHFSD,MTHFSD Silent,Silent,Silent,Silent,Silent,Silent,Silent exm1266360 16 86588301 [T/G] NR_027490,NM_001159377,NM_001159379,NM_001159380,NM_022764,NR_027489,NM_001159378 MTHFSD,MTHFSD,MTHFSD,MTHFSD,MTHFSD,MTHFSD,MTHFSD EXON Silent,Missense_N25H,Missense_N24H,Missense_N5H,Missense_N24H,Silent,Missense_N25H exm1266361 16 86588318 [T/C] NR_027490,NM_001159377,NM_001159379,NM_001159380,NM_022764,NR_027489,NM_001159378 MTHFSD,MTHFSD,MTHFSD,MTHFSD,MTHFSD,MTHFSD,MTHFSD EXON Silent,Missense_G19D,Missense_G18D,Silent,Missense_G18D,Silent,Missense_G19D exm1266395 16 86601555 [A/T] NM_005251 FOXC2 EXON Missense_K205M exm1266399 16 86601600 [A/C] NM_005251 FOXC2 EXON Missense_P220Q exm1266419 16 86602305 [A/G] NM_005251 FOXC2 EXON Missense_N455S exm1266422 16 86602404 [A/G] NM_005251 FOXC2 EXON Missense_Y488C exm1266459 16 86613074 [T/C] NM_005250 FOXL1 EXON Missense_R249C exm1266461 16 86613143 [A/G] NM_005250 FOXL1 EXON Missense_G272S exm1266462 16 86613171 [T/C] NM_005250 FOXL1 EXON Missense_L281P exm-rs10048146 16 86710660 [A/G] exm2252795 16 86817240 [A/C] exm-rs4843467 16 86883820 [T/C] exm2267920 16 87148749 [A/G] exm1266487 16 87339390 [T/C] NM_001195125,NM_001195124,NM_001256917 C16orf95,C16orf95,C16orf95 EXON Missense_R151H,Synonymous_A212A,Missense_R136H exm1266488 16 87339450 [T/C] NM_001195125,NM_001195124,NM_001256917 C16orf95,C16orf95,C16orf95 EXON Missense_C131Y,Synonymous_L192L,Missense_C116Y exm1266491 16 87350773 [A/C] NM_001195125,NM_001195124,NM_001256917 C16orf95,C16orf95,C16orf95 EXON Missense_A26S,Missense_A26S,Synonymous_A9A exm1266522 16 87367808 [A/G] NR_024568,NM_024735 FBXO31,FBXO31 EXON Silent,Missense_R361C exm1266545 16 87377263 [T/C] NR_024568,NM_024735 FBXO31,FBXO31 EXON Silent,Missense_K200E exm1266551 16 87380787 [T/C] NR_024568,NM_024735 FBXO31,FBXO31 EXON Silent,Missense_N161S exm2260608 16 87394386 [A/G] NR_024568,NM_024735 FBXO31,FBXO31 Silent,Silent exm1266575 16 87432453 [C/G] NM_022818 MAP1LC3B EXON Missense_E25Q exm1266579 16 87435782 [T/C] NM_022818 MAP1LC3B EXON Missense_V33A exm1266582 16 87435862 [A/G] NM_022818 MAP1LC3B EXON Missense_M60V exm1266603 16 87445125 [A/G] NM_015144 ZCCHC14 EXON Missense_P931S exm1266645 16 87445839 [T/C] NM_015144 ZCCHC14 EXON Missense_V693M exm1266647 16 87445977 [T/C] NM_015144 ZCCHC14 EXON Missense_A647T exm1266663 16 87446123 [T/C] NM_015144 ZCCHC14 EXON Missense_H598R exm1266671 16 87446222 [A/G] NM_015144 ZCCHC14 EXON Missense_A565V exm1266672 16 87446244 [T/C] NM_015144 ZCCHC14 EXON Missense_A558T exm1266682 16 87446400 [A/G] NM_015144 ZCCHC14 EXON Missense_P506S exm1266684 16 87446433 [C/G] NM_015144 ZCCHC14 EXON Missense_P495A exm2252797 16 87446500 [C/G] NM_015144 ZCCHC14 EXON Synonymous_P472P exm1266690 16 87446661 [A/G] NM_015144 ZCCHC14 EXON Missense_R445C exm1266724 16 87452478 [G/C] NM_015144 ZCCHC14 EXON Missense_G222R exm1266735 16 87454280 [T/G] NM_015144 ZCCHC14 EXON Missense_P158T exm1266738 16 87454310 [A/G] NM_015144 ZCCHC14 EXON Missense_Y148H exm1266752 16 87466790 [T/C] NM_015144 ZCCHC14 EXON Missense_D101N exm1266757 16 87493649 [A/G] NM_015144 ZCCHC14 EXON Missense_S83L exm1266761 16 87493737 [T/C] NM_015144 ZCCHC14 EXON Missense_I54V exm1266786 16 87677887 [A/G] NR_073379,NM_020655 JPH3,JPH3 EXON Silent,Missense_G136S exm1266794 16 87677941 [A/G] NR_073379,NM_020655 JPH3,JPH3 EXON Silent,Missense_A154T exm1266814 16 87678076 [A/G] NR_073379,NM_020655 JPH3,JPH3 EXON Silent,Missense_V199M exm1266817 16 87678107 [C/G] NR_073379,NM_020655 JPH3,JPH3 EXON Silent,Missense_S209T exm1266824 16 87678173 [A/G] NR_073379,NM_020655 JPH3,JPH3 EXON Silent,Missense_K231R exm1871715 16 87678193 [T/C] NR_073379,NM_020655 JPH3,JPH3 EXON Silent,Missense_R238C exm1266835 16 87678248 [T/C] NR_073379,NM_020655 JPH3,JPH3 EXON Silent,Missense_T256M exm1266839 16 87678302 [T/C] NR_073379,NM_020655 JPH3,JPH3 EXON Silent,Missense_A274V exm2252799 16 87678420 [T/C] NR_073379,NM_020655 JPH3,JPH3 EXON Silent,Synonymous_G313G exm1871724 16 87678511 [A/G] NR_073379,NM_020655 JPH3,JPH3 EXON Silent,Missense_V344I exm1266865 16 87678514 [A/G] NR_073379,NM_020655 JPH3,JPH3 EXON Silent,Missense_G345S exm1871726 16 87678548 [T/C] NR_073379,NM_020655 JPH3,JPH3 EXON Silent,Missense_A356V exm2274872 16 87678559 [T/C] NR_073379,NM_020655 JPH3,JPH3 EXON Silent,Missense_R360C exm1266871 16 87678574 [T/C] NR_073379,NM_020655 JPH3,JPH3 EXON Silent,Missense_R365C exm1266875 16 87678580 [A/G] NR_073379,NM_020655 JPH3,JPH3 EXON Silent,Missense_V367I exm1266877 16 87678589 [A/G] NR_073379,NM_020655 JPH3,JPH3 EXON Silent,Missense_A370T exm2272411 16 87701468 [T/C] NR_073379,NM_020655 JPH3,JPH3 Silent,Silent exm1266887 16 87717862 [A/C] NR_073379,NM_020655 JPH3,JPH3 EXON Silent,Missense_H425Q exm1266888 16 87717863 [T/C] NR_073379,NM_020655 JPH3,JPH3 EXON Silent,Missense_R426W exm1266890 16 87717872 [A/G] NR_073379,NM_020655 JPH3,JPH3 EXON Silent,Missense_G429R exm1266934 16 87723932 [T/C] NR_073379,NM_020655 JPH3,JPH3 EXON Silent,Missense_R656W exm1266963 16 87741992 [T/C] NM_001184856,NM_001184854,NM_017566 KLHDC4,KLHDC4,KLHDC4 EXON Missense_E479K,Missense_E453K,Missense_E510K exm1266965 16 87741998 [T/C] NM_001184856,NM_001184854,NM_017566 KLHDC4,KLHDC4,KLHDC4 EXON Missense_D477N,Missense_D451N,Missense_D508N exm1266970 16 87742054 [T/C] NM_001184856,NM_001184854,NM_017566 KLHDC4,KLHDC4,KLHDC4 EXON Missense_E458G,Missense_E432G,Missense_E489G exm1266982 16 87742982 [T/C] NM_001184856,NM_001184854,NM_017566 KLHDC4,KLHDC4,KLHDC4 EXON Missense_V415I,Missense_V389I,Missense_V446I exm1266993 16 87743084 [A/G] NM_001184856,NM_001184854,NM_017566 KLHDC4,KLHDC4,KLHDC4 EXON Missense_R381W,Missense_R355W,Missense_R412W exm1871771 16 87743114 [A/G] NM_001184856,NM_001184854,NM_017566 KLHDC4,KLHDC4,KLHDC4 EXON Missense_L371F,Missense_L345F,Missense_L402F exm1267003 16 87743135 [T/C] NM_001184856,NM_001184854,NM_017566 KLHDC4,KLHDC4,KLHDC4 EXON Missense_V364M,Missense_V338M,Missense_V395M exm1267005 16 87743147 [T/C] NM_001184856,NM_001184854,NM_017566 KLHDC4,KLHDC4,KLHDC4 EXON Missense_E360K,Missense_E334K,Missense_E391K exm1267007 16 87743194 [A/C] NM_001184856,NM_001184854,NM_017566 KLHDC4,KLHDC4,KLHDC4 EXON Missense_G344V,Missense_G318V,Missense_G375V exm1267011 16 87743206 [A/G] NM_001184856,NM_001184854,NM_017566 KLHDC4,KLHDC4,KLHDC4 EXON Missense_P340L,Missense_P314L,Missense_P371L exm1267015 16 87743248 [T/C] NM_001184856,NM_001184854,NM_017566 KLHDC4,KLHDC4,KLHDC4 EXON Missense_R326H,Missense_R300H,Missense_R357H exm1267024 16 87744894 [A/C] NM_001184856,NM_001184854,NM_017566 KLHDC4,KLHDC4,KLHDC4 EXON Missense_D300Y,Missense_D274Y,Missense_D331Y exm1267027 16 87744911 [A/G] NM_001184856,NM_001184854,NM_017566 KLHDC4,KLHDC4,KLHDC4 EXON Missense_S294L,Missense_S268L,Missense_S325L exm1267035 16 87744972 [A/G] NM_001184856,NM_001184854,NM_017566 KLHDC4,KLHDC4,KLHDC4 EXON Missense_P274S,Missense_P248S,Missense_P305S exm1267046 16 87745050 [T/C] NM_001184856,NM_001184854,NM_017566 KLHDC4,KLHDC4,KLHDC4 Silent,Silent,Silent exm1267048 16 87748138 [C/G] NM_001184856,NM_001184854,NM_017566 KLHDC4,KLHDC4,KLHDC4 EXON Missense_D236E,Missense_D210E,Missense_D267E exm1267090 16 87764215 [T/C] NM_001184856,NM_001184854,NM_017566 KLHDC4,KLHDC4,KLHDC4 EXON Silent,Missense_R124Q,Missense_R181Q exm1267092 16 87764227 [T/C] NM_001184856,NM_001184854,NM_017566 KLHDC4,KLHDC4,KLHDC4 EXON Silent,Missense_R120Q,Missense_R177Q exm1267094 16 87764240 [A/C] NM_001184856,NM_001184854,NM_017566 KLHDC4,KLHDC4,KLHDC4 EXON Silent,Missense_G116C,Missense_G173C exm1267100 16 87782322 [G/C] NM_001184856,NM_001184854,NM_017566 KLHDC4,KLHDC4,KLHDC4 EXON Missense_L155V,Missense_L98V,Missense_L155V exm1267102 16 87782348 [T/C] NM_001184856,NM_001184854,NM_017566 KLHDC4,KLHDC4,KLHDC4 EXON Missense_G146E,Missense_G89E,Missense_G146E exm1267103 16 87782349 [T/C] NM_001184856,NM_001184854,NM_017566 KLHDC4,KLHDC4,KLHDC4 EXON Missense_G146R,Missense_G89R,Missense_G146R exm1267106 16 87782396 [A/C] NM_001184856,NM_001184854,NM_017566 KLHDC4,KLHDC4,KLHDC4 EXON Missense_G130V,Missense_G73V,Missense_G130V exm1267119 16 87788864 [A/G] NM_001184856,NM_001184854,NM_017566 KLHDC4,KLHDC4,KLHDC4 EXON Missense_T102I,Missense_T45I,Missense_T102I exm1267121 16 87788876 [T/C] NM_001184856,NM_001184854,NM_017566 KLHDC4,KLHDC4,KLHDC4 EXON Missense_Y98C,Missense_Y41C,Missense_Y98C exm1267130 16 87790070 [C/G] NM_001184856,NM_001184854,NM_017566 KLHDC4,KLHDC4,KLHDC4 EXON Missense_L69V,Silent,Missense_L69V exm1267132 16 87795580 [G/C] NM_001184856,NM_001184854,NM_017566 KLHDC4,KLHDC4,KLHDC4 EXON Missense_L56V,Silent,Missense_L56V exm1871808 16 87795592 [A/G] NM_001184856,NM_001184854,NM_017566 KLHDC4,KLHDC4,KLHDC4 EXON Nonsense_Q52X,Silent,Nonsense_Q52X exm1267136 16 87795633 [A/G] NM_001184856,NM_001184854,NM_017566 KLHDC4,KLHDC4,KLHDC4 EXON Missense_A38V,Silent,Missense_A38V exm1267137 16 87795647 [T/C] NM_001184856,NM_001184854,NM_017566 KLHDC4,KLHDC4,KLHDC4 Silent,Silent,Silent exm1267141 16 87799414 [T/C] NM_001184856,NM_001184854,NM_017566 KLHDC4,KLHDC4,KLHDC4 EXON Missense_R28H,Missense_R28H,Missense_R28H exm2272457 16 87836659 [T/C] exm1267152 16 87866620 [T/C] NM_003486 SLC7A5 EXON Missense_V494I exm1267154 16 87868062 [A/C] NM_003486 SLC7A5 EXON Missense_V476F exm1267160 16 87868122 [T/C] NM_003486 SLC7A5 EXON Missense_V456M exm1267165 16 87870208 [T/C] NM_003486 SLC7A5 EXON Missense_V396I exm1267171 16 87871483 [C/G] NM_003486 SLC7A5 EXON Missense_L370V exm1267182 16 87873390 [A/G] NM_003486 SLC7A5 EXON Missense_T286M exm1267193 16 87874736 [C/G] NM_003486 SLC7A5 EXON Missense_N230K exm1267194 16 87874737 [T/C] NM_003486 SLC7A5 EXON Missense_N230S exm1267199 16 87874758 [A/T] NM_003486 SLC7A5 EXON Missense_D223V exm1267205 16 87885387 [T/C] NM_003486 SLC7A5 EXON Missense_A203T exm1267277 16 87936031 [T/C] NM_001739 CA5A EXON Synonymous_K185K exm1267307 16 87969919 [T/G] NM_001739 CA5A EXON Missense_N46K exm1267308 16 87969922 [A/T] NM_001739 CA5A EXON Missense_N45K exm1267315 16 87969977 [G/C] NM_001739 CA5A EXON Missense_S27W exm-rs4843747 16 87991051 [A/C] NM_017869,NM_079837,NM_001173540,NM_001173541,NM_001173539 BANP,BANP,BANP,BANP,BANP Silent,Silent,Silent,Silent,Silent exm1267325 16 88014652 [G/C] NM_017869,NM_079837,NM_001173540,NM_001173541,NM_001173539,NM_001173542,NM_001173543 BANP,BANP,BANP,BANP,BANP,BANP,BANP EXON Missense_E27D,Missense_E27D,Missense_E33D,Missense_E27D,Missense_E27D,Missense_E27D,Missense_E27D exm2272412 16 88039150 [T/C] NM_017869,NM_079837,NM_001173540,NM_001173541,NM_001173539,NM_001173542,NM_001173543 BANP,BANP,BANP,BANP,BANP,BANP,BANP Silent,Silent,Silent,Silent,Silent,Silent,Silent exm1267336 16 88039696 [T/C] NM_017869,NM_079837,NM_001173540,NM_001173541,NM_001173539,NM_001173542,NM_001173543 BANP,BANP,BANP,BANP,BANP,BANP,BANP EXON Synonymous_C121C,Synonymous_C121C,Synonymous_C127C,Synonymous_C121C,Synonymous_N160N,Synonymous_N160N,Synonymous_N152N exm1267350 16 88039818 [T/C] NM_017869,NM_079837,NM_001173540,NM_001173541,NM_001173539,NM_001173542,NM_001173543 BANP,BANP,BANP,BANP,BANP,BANP,BANP EXON Missense_A162V,Missense_A162V,Missense_A168V,Missense_A162V,Missense_A201V,Missense_A201V,Missense_A193V exm-rs7499814 16 88052161 [A/C] NM_017869,NM_079837,NM_001173540,NM_001173541,NM_001173539,NM_001173542,NM_001173543 BANP,BANP,BANP,BANP,BANP,BANP,BANP EXON Synonymous_L222L,Synonymous_L222L,Synonymous_L228L,Synonymous_L222L,Synonymous_L261L,Synonymous_L261L,Synonymous_L253L exm1267397 16 88105732 [A/G] NM_017869,NM_079837,NM_001173540,NM_001173541,NM_001173539,NM_001173542,NM_001173543 BANP,BANP,BANP,BANP,BANP,BANP,BANP EXON Missense_V418M,Missense_V440M,Missense_V446M,Missense_V415M,Missense_V454M,Missense_V457M,Missense_V468M exm-rs12447690 16 88298124 [T/C] exm1267436 16 88494947 [T/C] NM_001127464 ZNF469 EXON Missense_S357P exm1267439 16 88494976 [A/C] NM_001127464 ZNF469 EXON Missense_R366S exm1267450 16 88495487 [A/G] NM_001127464 ZNF469 EXON Missense_V537M exm1267463 16 88495872 [T/C] NM_001127464 ZNF469 EXON Missense_P665L exm1267470 16 88496175 [A/G] NM_001127464 ZNF469 EXON Missense_R766Q exm1267473 16 88496285 [T/G] NM_001127464 ZNF469 EXON Missense_A803S exm1267475 16 88496544 [T/C] NM_001127464 ZNF469 EXON Missense_A889V exm1267496 16 88497528 [T/C] NM_001127464 ZNF469 EXON Missense_P1189L exm1267498 16 88497651 [A/C] NM_001127464 ZNF469 EXON Missense_A1230E exm1267506 16 88498221 [T/C] NM_001127464 ZNF469 EXON Missense_P1420L exm1267507 16 88498241 [G/C] NM_001127464 ZNF469 EXON Missense_L1427V exm1267509 16 88498284 [A/G] NM_001127464 ZNF469 EXON Missense_Y1441C exm1267511 16 88498299 [T/C] NM_001127464 ZNF469 EXON Missense_A1446V exm1267522 16 88498490 [A/G] NM_001127464 ZNF469 EXON Missense_A1510T exm1267523 16 88498529 [A/G] NM_001127464 ZNF469 EXON Missense_V1523I exm1267531 16 88498884 [T/C] NM_001127464 ZNF469 EXON Missense_A1641V exm1267532 16 88498965 [T/C] NM_001127464 ZNF469 EXON Missense_P1668L exm2225525 16 88499175 [A/G] NM_001127464 ZNF469 EXON Missense_R1738Q exm1267542 16 88499292 [A/C] NM_001127464 ZNF469 EXON Missense_P1777H exm1267543 16 88499426 [A/C] NM_001127464 ZNF469 EXON Missense_P1822T exm1267547 16 88499522 [A/G] NM_001127464 ZNF469 EXON Missense_A1854T exm2252803 16 88499539 [C/G] NM_001127464 ZNF469 EXON Synonymous_T1859T exm1267559 16 88499910 [A/G] NM_001127464 ZNF469 EXON Missense_G1983D exm1267561 16 88500137 [A/G] NM_001127464 ZNF469 EXON Missense_A2059T exm1267576 16 88500657 [A/G] NM_001127464 ZNF469 EXON Missense_K2232R exm1267579 16 88500822 [G/C] NM_001127464 ZNF469 EXON Missense_P2287R exm1267583 16 88500957 [T/C] NM_001127464 ZNF469 EXON Missense_P2332L exm1267586 16 88501034 [C/G] NM_001127464 ZNF469 EXON Missense_G2358R exm1267589 16 88501143 [A/C] NM_001127464 ZNF469 EXON Missense_S2394Y exm1267590 16 88501145 [A/C] NM_001127464 ZNF469 EXON Missense_P2395T exm1267596 16 88501386 [A/C] NM_001127464 ZNF469 EXON Missense_A2475E exm1267598 16 88501489 [G/C] NM_001127464 ZNF469 EXON Missense_E2509D exm1267600 16 88501553 [A/G] NM_001127464 ZNF469 EXON Missense_K2531E exm1267606 16 88501683 [T/C] NM_001127464 ZNF469 EXON Missense_L2574P exm1267607 16 88501728 [A/G] NM_001127464 ZNF469 EXON Missense_R2589Q exm1267617 16 88501971 [A/T] NM_001127464 ZNF469 EXON Missense_L2670Q exm2252804 16 88501999 [A/G] NM_001127464 ZNF469 EXON Synonymous_A2679A exm1267620 16 88502090 [A/G] NM_001127464 ZNF469 EXON Missense_A2710T exm1267626 16 88502259 [T/C] NM_001127464 ZNF469 EXON Missense_T2766M exm1267637 16 88502505 [A/G] NM_001127464 ZNF469 EXON Missense_H2848R exm1267641 16 88502573 [A/G] NM_001127464 ZNF469 EXON Missense_G2871S exm2225531 16 88503051 [T/A] NM_001127464 ZNF469 EXON Missense_L3030Q exm1267677 16 88504203 [C/G] NM_001127464 ZNF469 EXON Missense_R3414T exm1267678 16 88504204 [C/G] NM_001127464 ZNF469 EXON Missense_R3414S exm2225535 16 88504491 [T/C] NM_001127464 ZNF469 EXON Missense_I3510T exm1267692 16 88504586 [A/G] NM_001127464 ZNF469 EXON Missense_A3542T exm2274873 16 88504595 [A/G] NM_001127464 ZNF469 EXON Missense_G3545R exm1267697 16 88504673 [T/G] NM_001127464 ZNF469 EXON Missense_A3571S exm1267700 16 88504766 [T/C] NM_001127464 ZNF469 EXON Missense_R3602C exm1267702 16 88504850 [C/G] NM_001127464 ZNF469 EXON Missense_E3630Q exm1267704 16 88504868 [A/G] NM_001127464 ZNF469 EXON Missense_T3636A exm1267718 16 88505303 [A/G] NM_001127464 ZNF469 EXON Missense_E3781K exm1267727 16 88505536 [C/G] NM_001127464 ZNF469 EXON Missense_Q3858H exm1267750 16 88552442 [A/C] NM_153813 ZFPM1 EXON Missense_P46T exm1267758 16 88555502 [G/C] NM_153813 ZFPM1 EXON Missense_G70A exm1267769 16 88580796 [T/C] NM_153813 ZFPM1 EXON Synonymous_D90D exm1267773 16 88580854 [A/G] NM_153813 ZFPM1 EXON Missense_A110T exm1267796 16 88594506 [T/C] NM_153813 ZFPM1 EXON Missense_T191M exm1267800 16 88594563 [T/C] NM_153813 ZFPM1 EXON Missense_T210M exm1267805 16 88594622 [A/C] NM_153813 ZFPM1 EXON Missense_I230L exm1267810 16 88598415 [A/G] NM_153813 ZFPM1 EXON Missense_V240I exm1267825 16 88599023 [A/G] NM_153813 ZFPM1 EXON Synonymous_G316G exm1267829 16 88599209 [C/G] NM_153813 ZFPM1 EXON Missense_S352T exm1267834 16 88599344 [A/G] NM_153813 ZFPM1 Silent exm1267838 16 88599687 [A/G] NM_153813 ZFPM1 EXON Missense_A441T exm1267924 16 88601281 [A/G] NM_153813 ZFPM1 EXON Missense_N972S exm1267983 16 88643695 [T/C] NM_144604 ZC3H18 EXON Missense_A55V exm1267985 16 88643704 [T/C] NM_144604 ZC3H18 EXON Missense_P58L exm2225541 16 88643727 [T/C] NM_144604 ZC3H18 EXON Missense_H66Y exm1267988 16 88643799 [T/C] NM_144604 ZC3H18 EXON Missense_R90W exm1267991 16 88643806 [G/C] NM_144604 ZC3H18 EXON Missense_P92R exm1267998 16 88643878 [T/C] NM_144604 ZC3H18 EXON Missense_A116V exm2225542 16 88643943 [T/C] NM_144604 ZC3H18 EXON Missense_P138S exm1268000 16 88643955 [A/G] NM_144604 ZC3H18 EXON Missense_V142I exm1268005 16 88644054 [A/G] NM_144604 ZC3H18 EXON Missense_G175R exm2272413 16 88656638 [T/G] NM_144604 ZC3H18 Silent exm1872035 16 88664727 [A/G] NM_144604 ZC3H18 EXON Missense_N277S exm1268030 16 88675355 [A/G] NM_144604 ZC3H18 EXON Missense_A368T exm1268055 16 88689638 [A/G] NM_144604 ZC3H18 EXON Missense_R560Q exm1268057 16 88689677 [T/G] NM_144604 ZC3H18 EXON Missense_R573L exm1268065 16 88691018 [T/C] NM_144604 ZC3H18 EXON Missense_S636L exm1268099 16 88695167 [T/C] NM_144604 ZC3H18 EXON Missense_A824V exm1268107 16 88696899 [A/G] NM_144604 ZC3H18 EXON Missense_R858Q exm1872111 16 88697582 [A/G] NM_144604 ZC3H18 EXON Missense_G913S exm1268122 16 88705054 [T/C] NM_013278 IL17C EXON Missense_T2M exm1268124 16 88705398 [A/G] NM_013278 IL17C EXON Missense_G6S exm1268126 16 88705455 [A/G] NM_013278 IL17C EXON Missense_R25G exm1268133 16 88705543 [A/G] NM_013278 IL17C EXON Missense_R54Q exm1268138 16 88705607 [C/G] NM_013278 IL17C EXON Missense_H75Q exm1268141 16 88705657 [A/G] NM_013278 IL17C EXON Missense_R92Q exm1268160 16 88706385 [A/G] NM_013278 IL17C EXON Missense_G167S exm1268191 16 88713182 [A/G] NM_000101 CYBA EXON Missense_R90W exm1268194 16 88713224 [T/C] NM_000101 CYBA EXON Missense_V76M exm1268196 16 88713236 [A/G] NM_000101 CYBA EXON Missense_Y72H exm1268201 16 88713533 [T/G] NM_000101 CYBA EXON Missense_K60T exm1268217 16 88718989 [C/G] NM_002461 MVD EXON Missense_D383H exm1268222 16 88719737 [T/C] NM_002461 MVD EXON Missense_G365S exm1268228 16 88719760 [A/G] NM_002461 MVD EXON Missense_A357V exm1268230 16 88719770 [C/G] NM_002461 MVD EXON Missense_L354V exm1268240 16 88721128 [T/C] NM_002461 MVD EXON Missense_G329S exm1268247 16 88721618 [T/C] NM_002461 MVD EXON Missense_G296R exm1268251 16 88721672 [T/G] NM_002461 MVD EXON Missense_N278H exm1268254 16 88721747 [T/C] NM_002461 MVD EXON Missense_A253T exm1268257 16 88721780 [A/G] NM_002461 MVD EXON Missense_R242C exm1268261 16 88721816 [T/C] NM_002461 MVD EXON Missense_E230K exm1268287 16 88722656 [A/G] NM_002461 MVD EXON Missense_R154W exm1268288 16 88722658 [G/C] NM_002461 MVD EXON Missense_R153P exm1872177 16 88723988 [A/G] NM_002461 MVD EXON Missense_R87C exm1268306 16 88724328 [T/C] NM_002461 MVD EXON Missense_R84Q exm1872182 16 88724397 [T/G] NM_002461 MVD EXON Missense_T61N exm1268326 16 88729463 [A/G] NM_002461 MVD EXON Missense_A9V exm1268329 16 88729494 [T/C] NM_002461 MVD EXON Silent exm1268332 16 88744864 [C/G] NR_024399,NM_178310 SNAI3-AS1,SNAI3 EXON Silent,Missense_G291R exm1268334 16 88744866 [A/G] NR_024399,NM_178310 SNAI3-AS1,SNAI3 EXON Silent,Missense_P290L exm1268336 16 88744891 [A/G] NR_024399,NM_178310 SNAI3-AS1,SNAI3 EXON Silent,Missense_R282W exm1268338 16 88744894 [T/C] NR_024399,NM_178310 SNAI3-AS1,SNAI3 EXON Silent,Missense_A281T exm1268345 16 88744939 [A/G] NR_024399,NM_178310 SNAI3-AS1,SNAI3 EXON Silent,Missense_R266W exm1268353 16 88745019 [A/C] NR_024399,NM_178310 SNAI3-AS1,SNAI3 EXON Silent,Missense_C239F exm1268361 16 88747514 [A/G] NR_024399,NM_178310 SNAI3-AS1,SNAI3 EXON Silent,Missense_R229C exm1268363 16 88747582 [A/G] NR_024399,NM_178310 SNAI3-AS1,SNAI3 EXON Silent,Missense_T206M exm1268365 16 88747592 [A/G] NR_024399,NM_178310 SNAI3-AS1,SNAI3 EXON Silent,Missense_R203C exm1872211 16 88747711 [A/G] NR_024399,NM_178310 SNAI3-AS1,SNAI3 EXON Silent,Missense_T163M exm1268378 16 88747748 [T/C] NR_024399,NM_178310 SNAI3-AS1,SNAI3 EXON Silent,Missense_G151S exm1872214 16 88747925 [T/C] NR_024399,NM_178310 SNAI3-AS1,SNAI3 EXON Silent,Missense_E92K exm1268394 16 88747975 [T/C] NR_024399,NM_178310 SNAI3-AS1,SNAI3 EXON Silent,Missense_R75Q exm1268398 16 88748015 [A/C] NR_024399,NM_178310 SNAI3-AS1,SNAI3 EXON Silent,Missense_S62A exm1268409 16 88752741 [G/C] NR_024399,NM_178310 SNAI3-AS1,SNAI3 EXON Silent,Missense_R25T exm1268438 16 88766031 [A/G] NM_001171815,NM_178841,NM_001171816 RNF166,RNF166,RNF166 EXON Missense_P60L,Missense_P141L,Missense_P32L exm1268440 16 88766037 [T/G] NM_001171815,NM_178841,NM_001171816 RNF166,RNF166,RNF166 EXON Missense_P58H,Missense_P139H,Missense_P30H exm1268469 16 88773584 [G/C] NM_001012759,NM_001012762 CTU2,CTU2 EXON Missense_V37L,Missense_V37L exm1268470 16 88773594 [A/T] NM_001012759,NM_001012762 CTU2,CTU2 EXON Missense_I40K,Missense_I40K exm1268471 16 88773596 [C/G] NM_001012759,NM_001012762 CTU2,CTU2 EXON Missense_R41G,Missense_R41G exm1268476 16 88776390 [T/C] NM_001012759,NM_001012762 CTU2,CTU2 EXON Missense_L63P,Missense_L63P exm1268479 16 88776402 [A/G] NM_001012759,NM_001012762 CTU2,CTU2 EXON Missense_R67Q,Missense_R67Q exm1268493 16 88778082 [C/G] NM_001012759,NM_001012762 CTU2,CTU2 EXON Missense_A108P,Missense_A108P exm1268500 16 88778691 [T/C] NM_001012759,NM_001012762 CTU2,CTU2 EXON Missense_A118V,Missense_A118V exm1268501 16 88778742 [G/C] NM_001012759,NM_001012762 CTU2,CTU2 EXON Missense_P135R,Missense_P135R exm1268502 16 88778762 [T/C] NM_001012759,NM_001012762 CTU2,CTU2 EXON Missense_F142L,Missense_F142L exm2252806 16 88779077 [A/G] NM_001012759,NM_001012762 CTU2,CTU2 EXON Synonymous_L167L,Synonymous_L167L exm1268512 16 88779132 [T/C] NM_001012759,NM_001012762 CTU2,CTU2 EXON Missense_H186Y,Missense_H186Y exm1268526 16 88779286 [T/C] NM_001012759,NM_001012762 CTU2,CTU2 EXON Missense_A237V,Missense_A237V exm1268527 16 88779303 [T/C] NM_001012759,NM_001012762 CTU2,CTU2 EXON Nonsense_Q243X,Nonsense_Q243X exm1268532 16 88779739 [A/G] NM_001012759,NM_001012762 CTU2,CTU2 EXON Missense_M253V,Missense_M253V exm1268533 16 88779746 [T/G] NM_001012759,NM_001012762 CTU2,CTU2 EXON Missense_R255L,Missense_R255L exm1268538 16 88779790 [T/C] NM_001012759,NM_001012762 CTU2,CTU2 EXON Missense_R270C,Missense_R270C exm1268541 16 88779854 [T/C] NM_001012759,NM_001012762 CTU2,CTU2 EXON Missense_T291M,Missense_T291M exm1268545 16 88780062 [A/C] NM_001012759,NM_001012762 CTU2,CTU2 EXON Nonsense_S294X,Nonsense_S294X exm1268547 16 88780068 [A/C] NM_001012759,NM_001012762 CTU2,CTU2 EXON Missense_E296A,Missense_E296A exm1268554 16 88780140 [A/G] NM_001012759,NM_001012762 CTU2,CTU2 EXON Missense_R320H,Missense_R320H exm1268560 16 88780175 [A/G] NM_001012759,NM_001012762 CTU2,CTU2 EXON Missense_V332I,Missense_V332I exm1268576 16 88780813 [T/G] NM_001012759,NM_001012762 CTU2,CTU2 EXON Missense_G374C,Missense_G374C exm1268577 16 88780820 [A/G] NM_001012759,NM_001012762 CTU2,CTU2 EXON Missense_R376Q,Missense_R376Q exm1872298 16 88780846 [A/G] NM_001012759,NM_001012762 CTU2,CTU2 EXON Missense_G385S,Missense_G385S exm1268591 16 88781019 [A/C] NM_001012759,NM_001012762 CTU2,CTU2 EXON Missense_Q409P,Missense_Q409P exm1268593 16 88781028 [T/C] NM_001012759,NM_001012762 CTU2,CTU2 EXON Missense_S412L,Missense_S412L exm1268596 16 88781040 [A/G] NM_001012759,NM_001012762 CTU2,CTU2 EXON Missense_Q416R,Missense_Q416R exm1268601 16 88781073 [A/G] NM_001012759,NM_001012762 CTU2,CTU2 EXON Missense_R427Q,Missense_R427Q exm1268609 16 88781272 [A/G] NM_001012759,NM_001012762 CTU2,CTU2 EXON Missense_D453N,Missense_D453N exm1268611 16 88781314 [T/C] NM_001012759,NM_001012762 CTU2,CTU2 EXON Missense_R467C,Missense_R467C exm1268620 16 88781475 [T/C] NM_001012759,NM_001012762 CTU2,CTU2 EXON Missense_P480L,Silent exm1268622 16 88781478 [T/C] NM_001012759,NM_001012762 CTU2,CTU2 EXON Missense_P481L,Silent exm1872328 16 88781591 [A/G] NM_001012759,NM_001012762 CTU2,CTU2 EXON Missense_A494T,Missense_G474D exm1268633 16 88781614 [G/C] NM_001012759,NM_001012762 CTU2,CTU2 EXON Synonymous_R501R,Missense_G482R exm1268636 16 88781642 [A/G] NM_001012759,NM_001012762 CTU2,CTU2 EXON Missense_E511K,Silent exm2225555 16 88782198 [T/C] NM_001142864 PIEZO1 EXON Missense_E2461K exm1268651 16 88782205 [G/C] NM_001142864 PIEZO1 EXON Missense_F2458L exm1268658 16 88782438 [C/G] NM_001142864 PIEZO1 EXON Missense_E2407Q exm1268663 16 88782473 [A/G] NM_001142864 PIEZO1 EXON Missense_A2395V exm1268664 16 88782477 [T/C] NM_001142864 PIEZO1 EXON Missense_G2394S exm1268680 16 88782988 [T/C] NM_001142864 PIEZO1 EXON Missense_R2302H exm1268688 16 88783100 [T/C] NM_001142864 PIEZO1 EXON Missense_I2265V exm1268691 16 88783233 [T/C] NM_001142864 PIEZO1 EXON Missense_R2245Q exm1268707 16 88783618 [T/C] NM_001142864 PIEZO1 EXON Missense_K2158R exm2252807 16 88786063 [T/C] NM_001142864 PIEZO1 EXON Synonymous_T2130T exm1268722 16 88786328 [T/C] NM_001142864 PIEZO1 EXON Missense_V2069M exm1268739 16 88786914 [T/C] NM_001142864 PIEZO1 EXON Missense_R1943Q exm1268744 16 88787052 [A/G] NM_001142864 PIEZO1 EXON Missense_R1925W exm1268749 16 88787097 [T/C] NM_001142864 PIEZO1 EXON Missense_E1910K exm1268754 16 88787595 [A/G] NM_001142864 PIEZO1 EXON Missense_R1883W exm1268756 16 88787610 [T/C] NM_001142864 PIEZO1 EXON Missense_K1878E exm1268757 16 88787615 [T/C] NM_001142864 PIEZO1 EXON Missense_R1876K exm1268760 16 88787673 [A/G] NM_001142864 PIEZO1 EXON Missense_P1857S exm1268765 16 88787727 [T/C] NM_001142864 PIEZO1 EXON Missense_E1839K exm1268771 16 88787781 [T/C] NM_001142864 PIEZO1 EXON Missense_G1821S exm1268773 16 88787829 [A/G] NM_001142864 PIEZO1 EXON Missense_L1805F exm1268779 16 88788037 [A/G] NM_001142864 PIEZO1 EXON Missense_P1771L exm1268786 16 88788235 [A/G] NM_001142864 PIEZO1 EXON Missense_T1732M exm1268818 16 88789333 [T/C] NM_001142864 PIEZO1 EXON Missense_R1527H exm1268823 16 88789523 [T/C] NM_001142864 PIEZO1 EXON Missense_G1492D exm1268831 16 88789709 [T/C] NM_001142864 PIEZO1 EXON Missense_A1455T exm1268836 16 88790325 [T/A] NM_001142864 PIEZO1 EXON Missense_E1430V exm1268838 16 88790362 [A/G] NM_001142864 PIEZO1 EXON Missense_Y1418H exm2274874 16 88791441 [A/G] NM_001142864 PIEZO1 EXON Missense_R1404W exm1268869 16 88793155 [T/C] NM_001142864 PIEZO1 EXON Missense_V1223I exm1268895 16 88798242 [A/C] NM_001142864 PIEZO1 EXON Missense_V1023G exm1268906 16 88798919 [T/G] NM_001142864 PIEZO1 EXON Missense_L939M exm1268917 16 88800060 [T/C] NM_001142864 PIEZO1 EXON Missense_R808Q exm1268919 16 88800074 [G/C] NM_001142864 PIEZO1 EXON Missense_Q803H exm1268925 16 88800139 [T/C] NM_001142864 PIEZO1 EXON Missense_G782S exm1268932 16 88800785 [T/C] NM_001142864 PIEZO1 EXON Missense_R720H exm1268934 16 88800804 [T/C] NM_001142864 PIEZO1 EXON Missense_V714M exm1268949 16 88801408 [T/C] NM_001142864 PIEZO1 EXON Missense_V575M exm1268951 16 88801443 [A/G] NM_001142864 PIEZO1 EXON Missense_T563M exm1268956 16 88801621 [A/G] NM_001142864 PIEZO1 EXON Missense_R531C exm1268976 16 88803124 [T/C] NM_001142864 PIEZO1 EXON Missense_R407G exm1268977 16 88803135 [T/C] NM_001142864 PIEZO1 EXON Missense_R403Q exm1268984 16 88804135 [C/G] NM_001142864 PIEZO1 Silent exm1268991 16 88804364 [T/C] NM_001142864 PIEZO1 EXON Missense_R333H exm2274875 16 88804365 [A/G] NM_001142864 PIEZO1 EXON Missense_R333C exm1268995 16 88804443 [T/C] NM_001142864 PIEZO1 EXON Missense_G307S exm1269002 16 88804734 [A/G] NM_001142864 PIEZO1 EXON Missense_V250A exm1269015 16 88807896 [A/G] NM_001142864 PIEZO1 EXON Missense_P152L exm1269019 16 88808743 [A/G] NM_001142864 PIEZO1 EXON Missense_I83T exm2260610 16 88833474 [A/G] NM_001142864 PIEZO1 Silent exm-rs837763 16 88853729 [T/C] exm1269034 16 88871016 [A/G] NM_030928 CDT1 EXON Missense_I98V exm1269039 16 88871222 [T/C] NM_030928 CDT1 EXON Missense_A135V exm1269040 16 88871230 [T/C] NM_030928 CDT1 EXON Missense_R138W exm1269048 16 88871873 [T/C] NM_030928 CDT1 EXON Missense_R172C exm1269055 16 88871951 [T/C] NM_030928 CDT1 EXON Missense_R198C exm1269063 16 88872145 [T/C] NM_030928 CDT1 EXON Missense_C234R exm1269067 16 88872193 [T/C] NM_030928 CDT1 EXON Missense_R250C exm1269068 16 88872202 [T/C] NM_030928 CDT1 EXON Missense_R253C exm1269069 16 88872203 [A/G] NM_030928 CDT1 EXON Missense_R253H exm1269073 16 88872229 [A/G] NM_030928 CDT1 EXON Missense_T262A exm1269081 16 88872464 [T/C] NM_030928 CDT1 EXON Missense_R290C exm1269084 16 88872479 [T/C] NM_030928 CDT1 EXON Missense_R295W exm1269088 16 88872496 [G/C] NM_030928 CDT1 EXON Missense_Q300H exm1269110 16 88873490 [A/G] NM_030928 CDT1 EXON Missense_R385H exm1269128 16 88873780 [A/C] NM_030928 CDT1 EXON Missense_E456A exm1269129 16 88873786 [T/C] NM_030928 CDT1 EXON Missense_A458V exm1269134 16 88873824 [C/G] NM_030928 CDT1 EXON Missense_P471A exm1269136 16 88873885 [A/G] NM_030928 CDT1 EXON Missense_S491N exm1269138 16 88874552 [T/G] NM_030928 CDT1 EXON Missense_S503A exm1269142 16 88874591 [T/C] NM_030928 CDT1 EXON Missense_R516C exm1269151 16 88874649 [A/G] NM_030928 CDT1 EXON Missense_R535H exm1269153 16 88874655 [T/C] NM_030928 CDT1 EXON Missense_A537V exm1269156 16 88874676 [A/T] NM_030928 CDT1 EXON Missense_E544V exm1269177 16 88876516 [T/C] NM_000485,NM_001030018 APRT,APRT EXON Missense_Q121R,Missense_Q121R exm1269180 16 88876532 [T/C] NM_000485,NM_001030018 APRT,APRT EXON Missense_A116T,Missense_A116T exm1269181 16 88876537 [T/G] NM_000485,NM_001030018 APRT,APRT EXON Missense_K114T,Missense_K114T exm1269185 16 88876886 [T/C] NM_000485,NM_001030018 APRT,APRT EXON Missense_R89Q,Missense_R89Q exm1269193 16 88877960 [A/G] NM_000485,NM_001030018 APRT,APRT EXON Missense_A62V,Missense_A62V exm1269218 16 88884459 [A/C] NM_000512 GALNS EXON Missense_V480F exm1269222 16 88884483 [T/C] NM_000512 GALNS EXON Missense_V472I exm2225567 16 88884488 [A/G] NM_000512 GALNS EXON Missense_S470L exm1269224 16 88884521 [A/G] NM_000512 GALNS EXON Missense_A459V exm1269255 16 88898407 [T/C] NM_000512 GALNS EXON Missense_Q334R exm1872452 16 88901632 [A/G] NM_000512 GALNS EXON Missense_A296V exm1269272 16 88901662 [A/G] NM_000512 GALNS EXON Missense_T286M exm1269273 16 88901669 [A/C] NM_000512 GALNS EXON Missense_F284V exm1269293 16 88902199 [C/G] NM_000512 GALNS EXON Missense_A231G exm1269294 16 88902206 [A/G] NM_000512 GALNS EXON Missense_Y229H exm1269299 16 88902643 [A/G] NM_000512 GALNS EXON Missense_T200M exm1269306 16 88904081 [T/C] NM_000512 GALNS EXON Missense_N172S exm1269308 16 88904097 [A/C] NM_000512 GALNS EXON Missense_F167V exm1269315 16 88907463 [A/G] NM_000512 GALNS EXON Missense_S120L exm1269316 16 88907491 [A/G] NM_000512 GALNS EXON Nonsense_Q111X exm1269321 16 88908306 [A/G] NM_000512 GALNS EXON Synonymous_N106N exm1269333 16 88909159 [T/G] NM_000512 GALNS EXON Missense_L67M exm1269334 16 88909177 [A/G] NM_000512 GALNS EXON Missense_R61W exm1872476 16 88909215 [A/G] NM_000512 GALNS EXON Missense_V48A exm1269339 16 88909219 [T/C] NM_000512 GALNS EXON Missense_G47R exm1269360 16 88925090 [T/C] NM_016209 TRAPPC2L EXON Missense_H33Y exm1269362 16 88925112 [A/G] NM_016209 TRAPPC2L EXON Missense_D40G exm1269365 16 88925196 [A/G] NM_016209 TRAPPC2L EXON Missense_K68R exm1269371 16 88926081 [A/G] NM_016209 TRAPPC2L EXON Missense_V73I exm1269388 16 88927329 [A/G] NM_016209 TRAPPC2L EXON Missense_D129N exm1269419 16 88931274 [T/C] NM_001080487 PABPN1L EXON Missense_G214D exm1269428 16 88931491 [A/G] NM_001080487 PABPN1L EXON Missense_R169C exm1269434 16 88931970 [T/C] NM_001080487 PABPN1L Silent exm1269437 16 88932012 [T/C] NM_001080487 PABPN1L EXON Missense_E140K exm1269439 16 88932217 [T/C] NM_001080487 PABPN1L EXON Missense_V130M exm1269441 16 88932254 [G/C] NM_001080487 PABPN1L EXON Missense_E117D exm1269454 16 88932769 [G/C] NM_001080487 PABPN1L EXON Missense_L82F exm1269457 16 88932857 [T/C] NM_001080487 PABPN1L EXON Missense_E53G exm1269460 16 88932886 [A/C] NM_001080487 PABPN1L EXON Missense_E43D exm1269461 16 88932905 [T/C] NM_001080487 PABPN1L EXON Missense_K37R exm1269473 16 88943542 [T/C] NM_175931,NM_005187 CBFA2T3,CBFA2T3 EXON Missense_V516M,Missense_V602M exm1872516 16 88945860 [T/C] NM_175931,NM_005187 CBFA2T3,CBFA2T3 EXON Missense_V408M,Missense_V494M exm1269498 16 88947187 [T/C] NM_175931,NM_005187 CBFA2T3,CBFA2T3 EXON Missense_R385H,Missense_R471H exm1269512 16 88947762 [T/C] NM_175931,NM_005187 CBFA2T3,CBFA2T3 EXON Missense_G361S,Missense_G447S exm1269523 16 88949154 [T/C] NM_175931,NM_005187 CBFA2T3,CBFA2T3 EXON Missense_R292Q,Missense_R378Q exm1269527 16 88951466 [A/G] NM_175931,NM_005187 CBFA2T3,CBFA2T3 EXON Missense_H283Y,Missense_H369Y exm1269536 16 88951552 [A/G] NM_175931,NM_005187 CBFA2T3,CBFA2T3 EXON Missense_P254L,Missense_P340L exm2225574 16 88951561 [A/G] NM_175931,NM_005187 CBFA2T3,CBFA2T3 EXON Missense_T251I,Missense_T337I exm1269539 16 88951594 [T/C] NM_175931,NM_005187 CBFA2T3,CBFA2T3 EXON Missense_R240H,Missense_R326H exm1872540 16 88951664 [T/C] NM_175931,NM_005187 CBFA2T3,CBFA2T3 EXON Missense_G217R,Missense_G303R exm1269546 16 88952391 [T/C] NM_175931,NM_005187 CBFA2T3,CBFA2T3 EXON Missense_G205S,Missense_G291S exm1269557 16 88952517 [A/G] NM_175931,NM_005187 CBFA2T3,CBFA2T3 EXON Missense_H163Y,Missense_H249Y exm1269561 16 88958323 [G/C] NM_175931,NM_005187 CBFA2T3,CBFA2T3 EXON Missense_F140L,Missense_F226L exm1269562 16 88958330 [G/C] NM_175931,NM_005187 CBFA2T3,CBFA2T3 EXON Missense_T138S,Missense_T224S exm1269598 16 88964557 [C/G] NM_175931,NM_005187 CBFA2T3,CBFA2T3 EXON Silent,Missense_R103P exm1269599 16 88967923 [A/G] NM_175931,NM_005187 CBFA2T3,CBFA2T3 EXON Missense_T37M,Missense_T98M exm1269600 16 88967932 [T/G] NM_175931,NM_005187 CBFA2T3,CBFA2T3 EXON Missense_P34H,Missense_P95H exm1269607 16 88967995 [T/C] NM_175931,NM_005187 CBFA2T3,CBFA2T3 EXON Missense_R13Q,Missense_R74Q exm2272458 16 89101485 [T/G] exm1269631 16 89167094 [T/C] NR_045666,NM_001243279,NM_001127214,NM_174917,NR_023316 ACSF3,ACSF3,ACSF3,ACSF3,ACSF3 EXON Silent,Missense_L2P,Missense_L2P,Missense_L2P,Silent exm1269634 16 89167117 [T/C] NR_045666,NM_001243279,NM_001127214,NM_174917,NR_023316 ACSF3,ACSF3,ACSF3,ACSF3,ACSF3 EXON Silent,Missense_R10W,Missense_R10W,Missense_R10W,Silent exm1269648 16 89167358 [A/G] NR_045666,NM_001243279,NM_001127214,NM_174917,NR_023316 ACSF3,ACSF3,ACSF3,ACSF3,ACSF3 EXON Silent,Missense_G90D,Missense_G90D,Missense_G90D,Silent exm1269658 16 89167447 [A/G] NR_045666,NM_001243279,NM_001127214,NM_174917,NR_023316 ACSF3,ACSF3,ACSF3,ACSF3,ACSF3 EXON Silent,Missense_G120S,Missense_G120S,Missense_G120S,Silent exm-IND16-87694958 16 89167458 [I/D] NR_045666,NM_001243279,NM_001127214,NM_174917,NR_023316 ACSF3,ACSF3,ACSF3,ACSF3,ACSF3 EXON exm1269671 16 89167634 [T/C] NR_045666,NM_001243279,NM_001127214,NM_174917,NR_023316 ACSF3,ACSF3,ACSF3,ACSF3,ACSF3 EXON Silent,Missense_P182L,Missense_P182L,Missense_P182L,Silent exm1269672 16 89167689 [C/G] NR_045666,NM_001243279,NM_001127214,NM_174917,NR_023316 ACSF3,ACSF3,ACSF3,ACSF3,ACSF3 EXON Silent,Missense_I200M,Missense_I200M,Missense_I200M,Silent exm1269674 16 89167714 [G/C] NR_045666,NM_001243279,NM_001127214,NM_174917,NR_023316 ACSF3,ACSF3,ACSF3,ACSF3,ACSF3 EXON Silent,Missense_P209A,Missense_P209A,Missense_P209A,Silent exm1269680 16 89169017 [T/C] NR_045666,NM_001243279,NM_001127214,NM_174917,NR_023316 ACSF3,ACSF3,ACSF3,ACSF3,ACSF3 EXON Silent,Synonymous_T224T,Synonymous_T224T,Synonymous_T224T,Silent exm2252810 16 89169017 [T/C] NR_045666,NM_001243279,NM_001127214,NM_174917,NR_023316 ACSF3,ACSF3,ACSF3,ACSF3,ACSF3 EXON Silent,Synonymous_T224T,Synonymous_T224T,Synonymous_T224T,Silent exm1269686 16 89169073 [T/C] NR_045666,NM_001243279,NM_001127214,NM_174917,NR_023316 ACSF3,ACSF3,ACSF3,ACSF3,ACSF3 EXON Silent,Missense_P243L,Missense_P243L,Missense_P243L,Silent exm1269690 16 89169141 [A/G] NR_045666,NM_001243279,NM_001127214,NM_174917,NR_023316 ACSF3,ACSF3,ACSF3,ACSF3,ACSF3 EXON Silent,Missense_M266V,Missense_M266V,Missense_M266V,Silent exm2225580 16 89169144 [A/G] NR_045666,NM_001243279,NM_001127214,NM_174917,NR_023316 ACSF3,ACSF3,ACSF3,ACSF3,ACSF3 EXON Silent,Missense_M267V,Missense_M267V,Missense_M267V,Silent exm1269699 16 89178531 [T/C] NR_045666,NM_001243279,NM_001127214,NM_174917,NR_023316 ACSF3,ACSF3,ACSF3,ACSF3,ACSF3 EXON Silent,Missense_P285L,Missense_P285L,Missense_P285L,Silent exm1269701 16 89178533 [T/C] NR_045666,NM_001243279,NM_001127214,NM_174917,NR_023316 ACSF3,ACSF3,ACSF3,ACSF3,ACSF3 EXON Silent,Missense_R286W,Missense_R286W,Missense_R286W,Silent exm1269718 16 89180844 [A/G] NR_045666,NM_001243279,NM_001127214,NM_174917,NR_023316 ACSF3,ACSF3,ACSF3,ACSF3,ACSF3 EXON Silent,Missense_E359K,Missense_E359K,Missense_E359K,Silent exm1269720 16 89180850 [A/G] NR_045666,NM_001243279,NM_001127214,NM_174917,NR_023316 ACSF3,ACSF3,ACSF3,ACSF3,ACSF3 EXON Silent,Missense_G361S,Missense_G361S,Missense_G361S,Silent exm1269726 16 89180883 [A/G] NR_045666,NM_001243279,NM_001127214,NM_174917,NR_023316 ACSF3,ACSF3,ACSF3,ACSF3,ACSF3 EXON Silent,Missense_V372M,Missense_V372M,Missense_V372M,Silent exm2274876 16 89199605 [A/G] NR_045666,NM_001243279,NM_001127214,NM_174917,NR_023316 ACSF3,ACSF3,ACSF3,ACSF3,ACSF3 EXON Silent,Missense_R434Q,Missense_R434Q,Missense_R434Q,Silent exm1269746 16 89211683 [A/G] NR_045666,NM_001243279,NM_001127214,NM_174917,NR_023316,NR_045667 ACSF3,ACSF3,ACSF3,ACSF3,ACSF3,ACSF3 EXON Silent,Missense_V459M,Missense_V459M,Missense_V459M,Silent,Silent exm1269749 16 89211702 [A/G] NR_045666,NM_001243279,NM_001127214,NM_174917,NR_023316,NR_045667 ACSF3,ACSF3,ACSF3,ACSF3,ACSF3,ACSF3 EXON Silent,Missense_Q465R,Missense_Q465R,Missense_Q465R,Silent,Silent exm2252811 16 89211706 [T/C] NR_045666,NM_001243279,NM_001127214,NM_174917,NR_023316,NR_045667 ACSF3,ACSF3,ACSF3,ACSF3,ACSF3,ACSF3 EXON Silent,Synonymous_Y466Y,Synonymous_Y466Y,Synonymous_Y466Y,Silent,Silent exm1269750 16 89211714 [A/G] NR_045666,NM_001243279,NM_001127214,NM_174917,NR_023316,NR_045667 ACSF3,ACSF3,ACSF3,ACSF3,ACSF3,ACSF3 EXON Silent,Missense_R469Q,Missense_R469Q,Missense_R469Q,Silent,Silent exm1269752 16 89211764 [A/G] NR_045666,NM_001243279,NM_001127214,NM_174917,NR_023316,NR_045667 ACSF3,ACSF3,ACSF3,ACSF3,ACSF3,ACSF3 EXON Silent,Missense_A486T,Missense_A486T,Missense_A486T,Silent,Silent exm2275249 16 89220496 [A/G] NR_045666,NM_001243279,NM_001127214,NM_174917,NR_023316,NR_045667 ACSF3,ACSF3,ACSF3,ACSF3,ACSF3,ACSF3 Silent,Silent,Silent,Silent,Silent,Silent exm1269770 16 89220527 [T/C] NR_045666,NM_001243279,NM_001127214,NM_174917,NR_023316,NR_045667 ACSF3,ACSF3,ACSF3,ACSF3,ACSF3,ACSF3 EXON Silent,Missense_S548L,Missense_S548L,Missense_S548L,Silent,Silent exm1269772 16 89220556 [T/C] NR_045666,NM_001243279,NM_001127214,NM_174917,NR_023316,NR_045667 ACSF3,ACSF3,ACSF3,ACSF3,ACSF3,ACSF3 EXON Silent,Missense_R558W,Missense_R558W,Missense_R558W,Silent,Silent exm1872698 16 89220557 [A/G] NR_045666,NM_001243279,NM_001127214,NM_174917,NR_023316,NR_045667 ACSF3,ACSF3,ACSF3,ACSF3,ACSF3,ACSF3 EXON Silent,Missense_R558Q,Missense_R558Q,Missense_R558Q,Silent,Silent exm1269795 16 89245941 [A/G] NM_004933 CDH15 EXON Missense_V54I exm1269808 16 89246681 [A/G] NM_004933 CDH15 EXON Missense_R92Q exm1269813 16 89246726 [A/G] NM_004933 CDH15 EXON Missense_N107S exm1269817 16 89249963 [T/C] NM_004933 CDH15 EXON Missense_A122V exm1269820 16 89250005 [T/C] NM_004933 CDH15 EXON Missense_T136M exm1269832 16 89251676 [A/G] NM_004933 CDH15 EXON Missense_E200K exm1269834 16 89251691 [A/G] NM_004933 CDH15 EXON Missense_D205N exm1269846 16 89253853 [A/G] NM_004933 CDH15 EXON Missense_N227S exm2252812 16 89253887 [T/C] NM_004933 CDH15 EXON Synonymous_D238D exm1269849 16 89253887 [T/C] NM_004933 CDH15 EXON Synonymous_D238D exm1269850 16 89253891 [T/C] NM_004933 CDH15 EXON Missense_L240F exm1269851 16 89253910 [T/C] NM_004933 CDH15 EXON Missense_A246V exm1269868 16 89256681 [A/G] NM_004933 CDH15 EXON Missense_E337K exm1269889 16 89257879 [T/C] NM_004933 CDH15 EXON Synonymous_D458D exm1269912 16 89259898 [T/C] NM_004933 CDH15 EXON Missense_L626F exm1269915 16 89259934 [A/G] NM_004933 CDH15 EXON Missense_G638R exm2274877 16 89259988 [A/G] NM_004933 CDH15 EXON Missense_E656K exm1269920 16 89260188 [A/G] NM_004933 CDH15 EXON Missense_R673H exm1269930 16 89261336 [A/G] NM_004933 CDH15 EXON Missense_E740K exm1269934 16 89261355 [T/C] NM_004933 CDH15 EXON Missense_A746V exm1269940 16 89261442 [A/G] NM_004933 CDH15 EXON Missense_R775Q exm2276471 16 89261471 [A/G] NM_004933 CDH15 EXON Missense_G785R exm1269941 16 89261482 [A/C] NM_004933 CDH15 EXON Nonsense_Y788X exm1269942 16 89261487 [T/C] NM_004933 CDH15 EXON Missense_A790V exm1269947 16 89287559 [T/C] NR_037705,NM_001201407,NM_182531 ZNF778,ZNF778,ZNF778 EXON Silent,Synonymous_H8H,Synonymous_H8H exm1269950 16 89288548 [A/G] NR_037705,NM_001201407,NM_182531 ZNF778,ZNF778,ZNF778 EXON Silent,Missense_Q25R,Missense_Q25R exm1269953 16 89289568 [A/G] NR_037705,NM_001201407,NM_182531 ZNF778,ZNF778,ZNF778 EXON Silent,Missense_A41T,Missense_A41T exm1269954 16 89289569 [T/C] NR_037705,NM_001201407,NM_182531 ZNF778,ZNF778,ZNF778 EXON Silent,Missense_A41V,Missense_A41V exm1269955 16 89289583 [A/G] NR_037705,NM_001201407,NM_182531 ZNF778,ZNF778,ZNF778 EXON Silent,Missense_D46N,Missense_D46N exm1269960 16 89289673 [A/G] NR_037705,NM_001201407,NM_182531 ZNF778,ZNF778,ZNF778 EXON Silent,Missense_E76K,Missense_E76K exm1872787 16 89291969 [A/G] NR_037705,NM_001201407,NM_182531 ZNF778,ZNF778,ZNF778 EXON Silent,Missense_R112Q,Missense_R84Q exm1269965 16 89292038 [T/C] NR_037705,NM_001201407,NM_182531 ZNF778,ZNF778,ZNF778 EXON Silent,Missense_T135M,Missense_T107M exm1269966 16 89292039 [A/G] NR_037705,NM_001201407,NM_182531 ZNF778,ZNF778,ZNF778 EXON Silent,Synonymous_T135T,Synonymous_T107T exm1269973 16 89293245 [A/T] NR_037705,NM_001201407,NM_182531 ZNF778,ZNF778,ZNF778 EXON Silent,Missense_F183L,Missense_F155L exm1269974 16 89293271 [A/C] NR_037705,NM_001201407,NM_182531 ZNF778,ZNF778,ZNF778 EXON Silent,Missense_K192T,Missense_K164T exm1269978 16 89293291 [A/G] NR_037705,NM_001201407,NM_182531 ZNF778,ZNF778,ZNF778 EXON Silent,Missense_V199M,Missense_V171M exm1269979 16 89293312 [C/G] NR_037705,NM_001201407,NM_182531 ZNF778,ZNF778,ZNF778 EXON Silent,Missense_A206P,Missense_A178P exm1269982 16 89293354 [A/G] NR_037705,NM_001201407,NM_182531 ZNF778,ZNF778,ZNF778 EXON Silent,Missense_T220A,Missense_T192A exm1269985 16 89293388 [C/G] NR_037705,NM_001201407,NM_182531 ZNF778,ZNF778,ZNF778 EXON Silent,Missense_G231A,Missense_G203A exm1269988 16 89293421 [T/C] NR_037705,NM_001201407,NM_182531 ZNF778,ZNF778,ZNF778 EXON Silent,Missense_A242V,Missense_A214V exm1269996 16 89293501 [A/G] NR_037705,NM_001201407,NM_182531 ZNF778,ZNF778,ZNF778 EXON Silent,Missense_A269T,Missense_A241T exm1872792 16 89293520 [A/G] NR_037705,NM_001201407,NM_182531 ZNF778,ZNF778,ZNF778 EXON Silent,Missense_H275R,Missense_H247R exm1270001 16 89293565 [T/C] NR_037705,NM_001201407,NM_182531 ZNF778,ZNF778,ZNF778 EXON Silent,Missense_F290S,Missense_F262S exm1270003 16 89293592 [A/G] NR_037705,NM_001201407,NM_182531 ZNF778,ZNF778,ZNF778 EXON Silent,Missense_R299H,Missense_R271H exm1270006 16 89293661 [T/C] NR_037705,NM_001201407,NM_182531 ZNF778,ZNF778,ZNF778 EXON Silent,Missense_S322F,Missense_S294F exm1270015 16 89293769 [C/G] NR_037705,NM_001201407,NM_182531 ZNF778,ZNF778,ZNF778 EXON Silent,Missense_T358R,Missense_T330R exm1270026 16 89293891 [A/G] NR_037705,NM_001201407,NM_182531 ZNF778,ZNF778,ZNF778 EXON Silent,Missense_G399R,Missense_G371R exm1270029 16 89293949 [T/C] NR_037705,NM_001201407,NM_182531 ZNF778,ZNF778,ZNF778 EXON Silent,Missense_I418T,Missense_I390T exm1270034 16 89294008 [A/G] NR_037705,NM_001201407,NM_182531 ZNF778,ZNF778,ZNF778 EXON Silent,Missense_R438G,Missense_R410G exm1270037 16 89294027 [T/C] NR_037705,NM_001201407,NM_182531 ZNF778,ZNF778,ZNF778 EXON Silent,Missense_T444M,Missense_T416M exm1270038 16 89294044 [A/G] NR_037705,NM_001201407,NM_182531 ZNF778,ZNF778,ZNF778 EXON Silent,Missense_T450A,Missense_T422A exm1270061 16 89294381 [T/C] NR_037705,NM_001201407,NM_182531 ZNF778,ZNF778,ZNF778 EXON Silent,Missense_I562T,Missense_I534T exm1270063 16 89294426 [T/A] NR_037705,NM_001201407,NM_182531 ZNF778,ZNF778,ZNF778 EXON Silent,Missense_N577I,Missense_N549I exm1270064 16 89294439 [T/G] NR_037705,NM_001201407,NM_182531 ZNF778,ZNF778,ZNF778 EXON Silent,Missense_Q581H,Missense_Q553H exm1270065 16 89294459 [G/C] NR_037705,NM_001201407,NM_182531 ZNF778,ZNF778,ZNF778 EXON Silent,Missense_P588R,Missense_P560R exm1270069 16 89294521 [C/G] NR_037705,NM_001201407,NM_182531 ZNF778,ZNF778,ZNF778 EXON Silent,Missense_R609G,Missense_R581G exm1270073 16 89294585 [G/C] NR_037705,NM_001201407,NM_182531 ZNF778,ZNF778,ZNF778 EXON Silent,Nonsense_S630X,Nonsense_S602X exm1270080 16 89294689 [A/T] NR_037705,NM_001201407,NM_182531 ZNF778,ZNF778,ZNF778 EXON Silent,Missense_R665W,Missense_R637W exm1270081 16 89294692 [A/G] NR_037705,NM_001201407,NM_182531 ZNF778,ZNF778,ZNF778 EXON Silent,Missense_T666A,Missense_T638A exm1270084 16 89294704 [G/C] NR_037705,NM_001201407,NM_182531 ZNF778,ZNF778,ZNF778 EXON Silent,Missense_E670Q,Missense_E642Q exm1270087 16 89294798 [A/G] NR_037705,NM_001201407,NM_182531 ZNF778,ZNF778,ZNF778 EXON Silent,Missense_Y701C,Missense_Y673C exm1270089 16 89294827 [A/G] NR_037705,NM_001201407,NM_182531 ZNF778,ZNF778,ZNF778 EXON Silent,Missense_N711D,Missense_N683D exm1270091 16 89294865 [A/C] NR_037705,NM_001201407,NM_182531 ZNF778,ZNF778,ZNF778 EXON Silent,Nonsense_Y723X,Nonsense_Y695X exm1270092 16 89294873 [A/G] NR_037705,NM_001201407,NM_182531 ZNF778,ZNF778,ZNF778 EXON Silent,Missense_E726G,Missense_E698G exm1270094 16 89294893 [G/C] NR_037705,NM_001201407,NM_182531 ZNF778,ZNF778,ZNF778 EXON Silent,Missense_D733H,Missense_D705H exm1270096 16 89294948 [A/G] NR_037705,NM_001201407,NM_182531 ZNF778,ZNF778,ZNF778 EXON Silent,Missense_H751R,Missense_H723R exm1270138 16 89341253 [G/C] NM_001256183,NM_001256182,NM_013275 ANKRD11,ANKRD11,ANKRD11 EXON Missense_S2561C,Missense_S2561C,Missense_S2561C exm1270185 16 89346370 [C/G] NM_001256183,NM_001256182,NM_013275 ANKRD11,ANKRD11,ANKRD11 EXON Missense_Q2194E,Missense_Q2194E,Missense_Q2194E exm1270186 16 89346390 [A/G] NM_001256183,NM_001256182,NM_013275 ANKRD11,ANKRD11,ANKRD11 EXON Missense_P2187L,Missense_P2187L,Missense_P2187L exm1270190 16 89346453 [A/C] NM_001256183,NM_001256182,NM_013275 ANKRD11,ANKRD11,ANKRD11 EXON Missense_M2166R,Missense_M2166R,Missense_M2166R exm1270199 16 89346627 [T/C] NM_001256183,NM_001256182,NM_013275 ANKRD11,ANKRD11,ANKRD11 EXON Missense_G2108D,Missense_G2108D,Missense_G2108D exm1270207 16 89346757 [A/G] NM_001256183,NM_001256182,NM_013275 ANKRD11,ANKRD11,ANKRD11 EXON Missense_F2065L,Missense_F2065L,Missense_F2065L exm1270208 16 89346774 [T/G] NM_001256183,NM_001256182,NM_013275 ANKRD11,ANKRD11,ANKRD11 EXON Missense_P2059H,Missense_P2059H,Missense_P2059H exm1270218 16 89346844 [T/C] NM_001256183,NM_001256182,NM_013275 ANKRD11,ANKRD11,ANKRD11 EXON Missense_D2036N,Missense_D2036N,Missense_D2036N exm1270244 16 89347212 [T/G] NM_001256183,NM_001256182,NM_013275 ANKRD11,ANKRD11,ANKRD11 EXON Missense_T1913N,Missense_T1913N,Missense_T1913N exm1270251 16 89347318 [A/G] NM_001256183,NM_001256182,NM_013275 ANKRD11,ANKRD11,ANKRD11 EXON Missense_S1878P,Missense_S1878P,Missense_S1878P exm1270252 16 89347321 [A/G] NM_001256183,NM_001256182,NM_013275 ANKRD11,ANKRD11,ANKRD11 EXON Missense_P1877S,Missense_P1877S,Missense_P1877S exm1270258 16 89347372 [A/G] NM_001256183,NM_001256182,NM_013275 ANKRD11,ANKRD11,ANKRD11 EXON Missense_P1860S,Missense_P1860S,Missense_P1860S exm1270265 16 89347431 [A/G] NM_001256183,NM_001256182,NM_013275 ANKRD11,ANKRD11,ANKRD11 EXON Missense_A1840V,Missense_A1840V,Missense_A1840V exm2225593 16 89347440 [A/G] NM_001256183,NM_001256182,NM_013275 ANKRD11,ANKRD11,ANKRD11 EXON Missense_P1837L,Missense_P1837L,Missense_P1837L exm1270267 16 89347441 [A/G] NM_001256183,NM_001256182,NM_013275 ANKRD11,ANKRD11,ANKRD11 EXON Missense_P1837S,Missense_P1837S,Missense_P1837S exm1270275 16 89347537 [T/C] NM_001256183,NM_001256182,NM_013275 ANKRD11,ANKRD11,ANKRD11 EXON Missense_V1805I,Missense_V1805I,Missense_V1805I exm1270279 16 89347612 [T/C] NM_001256183,NM_001256182,NM_013275 ANKRD11,ANKRD11,ANKRD11 EXON Missense_A1780T,Missense_A1780T,Missense_A1780T exm1270286 16 89347699 [T/C] NM_001256183,NM_001256182,NM_013275 ANKRD11,ANKRD11,ANKRD11 EXON Missense_A1751T,Missense_A1751T,Missense_A1751T exm1270294 16 89347752 [A/G] NM_001256183,NM_001256182,NM_013275 ANKRD11,ANKRD11,ANKRD11 EXON Missense_A1733V,Missense_A1733V,Missense_A1733V exm1270298 16 89347862 [G/C] NM_001256183,NM_001256182,NM_013275 ANKRD11,ANKRD11,ANKRD11 EXON Missense_D1696E,Missense_D1696E,Missense_D1696E exm1270311 16 89348038 [G/C] NM_001256183,NM_001256182,NM_013275 ANKRD11,ANKRD11,ANKRD11 EXON Missense_P1638A,Missense_P1638A,Missense_P1638A exm1270323 16 89348328 [T/C] NM_001256183,NM_001256182,NM_013275 ANKRD11,ANKRD11,ANKRD11 EXON Missense_E1541G,Missense_E1541G,Missense_E1541G exm1270329 16 89348440 [A/T] NM_001256183,NM_001256182,NM_013275 ANKRD11,ANKRD11,ANKRD11 EXON Missense_T1504S,Missense_T1504S,Missense_T1504S exm1872869 16 89348508 [A/G] NM_001256183,NM_001256182,NM_013275 ANKRD11,ANKRD11,ANKRD11 EXON Missense_A1481V,Missense_A1481V,Missense_A1481V exm1270356 16 89348713 [T/C] NM_001256183,NM_001256182,NM_013275 ANKRD11,ANKRD11,ANKRD11 EXON Missense_E1413K,Missense_E1413K,Missense_E1413K exm1270368 16 89348973 [A/G] NM_001256183,NM_001256182,NM_013275 ANKRD11,ANKRD11,ANKRD11 EXON Missense_T1326M,Missense_T1326M,Missense_T1326M exm1270383 16 89349124 [T/C] NM_001256183,NM_001256182,NM_013275 ANKRD11,ANKRD11,ANKRD11 EXON Missense_A1276T,Missense_A1276T,Missense_A1276T exm2252813 16 89349290 [T/C] NM_001256183,NM_001256182,NM_013275 ANKRD11,ANKRD11,ANKRD11 EXON Synonymous_R1220R,Synonymous_R1220R,Synonymous_R1220R exm1270397 16 89349366 [T/C] NM_001256183,NM_001256182,NM_013275 ANKRD11,ANKRD11,ANKRD11 EXON Missense_R1195K,Missense_R1195K,Missense_R1195K exm1270399 16 89349372 [A/G] NM_001256183,NM_001256182,NM_013275 ANKRD11,ANKRD11,ANKRD11 EXON Missense_A1193V,Missense_A1193V,Missense_A1193V exm2225598 16 89349387 [C/G] NM_001256183,NM_001256182,NM_013275 ANKRD11,ANKRD11,ANKRD11 EXON Missense_R1188P,Missense_R1188P,Missense_R1188P exm1270410 16 89349513 [A/G] NM_001256183,NM_001256182,NM_013275 ANKRD11,ANKRD11,ANKRD11 EXON Missense_T1146M,Missense_T1146M,Missense_T1146M exm1872877 16 89349519 [A/G] NM_001256183,NM_001256182,NM_013275 ANKRD11,ANKRD11,ANKRD11 EXON Missense_P1144L,Missense_P1144L,Missense_P1144L exm1270415 16 89349668 [C/G] NM_001256183,NM_001256182,NM_013275 ANKRD11,ANKRD11,ANKRD11 EXON Missense_I1094M,Missense_I1094M,Missense_I1094M exm1270421 16 89349852 [A/C] NM_001256183,NM_001256182,NM_013275 ANKRD11,ANKRD11,ANKRD11 EXON Missense_S1033I,Missense_S1033I,Missense_S1033I exm2252814 16 89349905 [C/G] NM_001256183,NM_001256182,NM_013275 ANKRD11,ANKRD11,ANKRD11 EXON Synonymous_P1015P,Synonymous_P1015P,Synonymous_P1015P exm2252815 16 89349941 [A/G] NM_001256183,NM_001256182,NM_013275 ANKRD11,ANKRD11,ANKRD11 EXON Synonymous_H1003H,Synonymous_H1003H,Synonymous_H1003H exm1270431 16 89350038 [A/G] NM_001256183,NM_001256182,NM_013275 ANKRD11,ANKRD11,ANKRD11 EXON Missense_A971V,Missense_A971V,Missense_A971V exm1270447 16 89350341 [T/C] NM_001256183,NM_001256182,NM_013275 ANKRD11,ANKRD11,ANKRD11 EXON Missense_S870N,Missense_S870N,Missense_S870N exm1270452 16 89350431 [T/C] NM_001256183,NM_001256182,NM_013275 ANKRD11,ANKRD11,ANKRD11 EXON Missense_R840Q,Missense_R840Q,Missense_R840Q exm1270463 16 89350710 [A/G] NM_001256183,NM_001256182,NM_013275 ANKRD11,ANKRD11,ANKRD11 EXON Missense_S747L,Missense_S747L,Missense_S747L exm1270466 16 89350734 [A/G] NM_001256183,NM_001256182,NM_013275 ANKRD11,ANKRD11,ANKRD11 EXON Missense_S739L,Missense_S739L,Missense_S739L exm1270477 16 89350911 [C/G] NM_001256183,NM_001256182,NM_013275 ANKRD11,ANKRD11,ANKRD11 EXON Missense_T680S,Missense_T680S,Missense_T680S exm1270480 16 89351098 [T/C] NM_001256183,NM_001256182,NM_013275 ANKRD11,ANKRD11,ANKRD11 EXON Missense_A618T,Missense_A618T,Missense_A618T exm1270506 16 89351523 [T/A] NM_001256183,NM_001256182,NM_013275 ANKRD11,ANKRD11,ANKRD11 EXON Missense_F476Y,Missense_F476Y,Missense_F476Y exm1270511 16 89351590 [T/C] NM_001256183,NM_001256182,NM_013275 ANKRD11,ANKRD11,ANKRD11 EXON Missense_V454M,Missense_V454M,Missense_V454M exm1270518 16 89351692 [T/C] NM_001256183,NM_001256182,NM_013275 ANKRD11,ANKRD11,ANKRD11 EXON Missense_V420M,Missense_V420M,Missense_V420M exm1270520 16 89351704 [T/C] NM_001256183,NM_001256182,NM_013275 ANKRD11,ANKRD11,ANKRD11 EXON Missense_A416T,Missense_A416T,Missense_A416T exm1270526 16 89351817 [T/C] NM_001256183,NM_001256182,NM_013275 ANKRD11,ANKRD11,ANKRD11 EXON Missense_N378S,Missense_N378S,Missense_N378S exm1270532 16 89351923 [T/C] NM_001256183,NM_001256182,NM_013275 ANKRD11,ANKRD11,ANKRD11 EXON Missense_V343I,Missense_V343I,Missense_V343I exm1270536 16 89352025 [T/C] NM_001256183,NM_001256182,NM_013275 ANKRD11,ANKRD11,ANKRD11 EXON Missense_A309T,Missense_A309T,Missense_A309T exm1270542 16 89352449 [A/G] NM_001256183,NM_001256182,NM_013275 ANKRD11,ANKRD11,ANKRD11 EXON Missense_T297M,Missense_T297M,Missense_T297M exm1270545 16 89352515 [T/C] NM_001256183,NM_001256182,NM_013275 ANKRD11,ANKRD11,ANKRD11 EXON Missense_N275S,Missense_N275S,Missense_N275S exm1872908 16 89357538 [G/C] NM_001256183,NM_001256182,NM_013275,NR_045839 ANKRD11,ANKRD11,ANKRD11,ANKRD11 EXON Missense_A94P,Missense_A94P,Missense_A94P,Silent exm1270573 16 89357543 [T/C] NM_001256183,NM_001256182,NM_013275,NR_045839 ANKRD11,ANKRD11,ANKRD11,ANKRD11 EXON Missense_R92Q,Missense_R92Q,Missense_R92Q,Silent exm1270583 16 89371704 [T/C] NM_001256183,NM_001256182,NM_013275,NR_045839 ANKRD11,ANKRD11,ANKRD11,ANKRD11 EXON Missense_D46N,Missense_D46N,Missense_D46N,Silent exm1270596 16 89576947 [A/T] NM_003119,NM_199367 SPG7,SPG7 EXON Nonsense_L78X,Nonsense_L78X exm1270597 16 89576958 [C/G] NM_003119,NM_199367 SPG7,SPG7 EXON Missense_Q82E,Missense_Q82E exm2264606 16 89587871 [A/C] NM_003119,NM_199367 SPG7,SPG7 Silent,Silent exm1270632 16 89592737 [T/C] NM_003119,NM_199367 SPG7,SPG7 EXON Missense_R207W,Missense_R207W exm1873000 16 89592774 [T/C] NM_003119,NM_199367 SPG7,SPG7 EXON Missense_I219T,Missense_I219T exm1270646 16 89597107 [T/C] NM_003119,NM_199367 SPG7,SPG7 EXON Missense_A293V,Missense_A293V exm1270647 16 89597110 [A/G] NM_003119,NM_199367 SPG7,SPG7 EXON Missense_R294H,Missense_R294H exm1270656 16 89598369 [A/G] NM_003119,NM_199367 SPG7,SPG7 EXON Missense_G349S,Missense_G349S exm1270668 16 89598987 [A/G] NM_003119,NM_199367 SPG7,SPG7 EXON Missense_G423S,Missense_G423S exm1270675 16 89603171 [A/G] NM_003119,NM_199367 SPG7,SPG7 Silent,Silent exm1270678 16 89603217 [T/C] NM_003119,NM_199367 SPG7,SPG7 EXON Silent,Missense_L457F exm1270681 16 89603235 [A/G] NM_003119,NM_199367 SPG7,SPG7 EXON Silent,Missense_A463T exm1270684 16 89603268 [T/C] NM_003119,NM_199367 SPG7,SPG7 EXON Silent,Missense_R474W exm1270688 16 89603284 [A/G] NM_003119,NM_199367 SPG7,SPG7 EXON Silent,Missense_G479D exm1270692 16 89603317 [T/G] NM_003119,NM_199367 SPG7,SPG7 EXON Silent,Missense_X490L exm2252818 16 89611090 [A/G] NM_003119 SPG7 EXON Synonymous_A453A exm1270700 16 89611100 [T/C] NM_003119 SPG7 EXON Nonsense_R457X exm1270713 16 89613123 [A/G] NM_003119 SPG7 EXON Missense_T503A exm1270714 16 89613145 [T/C] NM_003119 SPG7 EXON Missense_A510V exm1270715 16 89613169 [T/G] NM_003119 SPG7 Silent exm2252819 16 89614451 [T/C] NM_003119 SPG7 EXON Synonymous_H531H exm1270743 16 89619540 [A/T] NM_003119 SPG7 EXON Missense_S645T exm1270744 16 89620204 [T/G] NM_003119 SPG7 EXON Missense_A647S exm1270745 16 89620234 [A/G] NM_003119 SPG7 EXON Missense_I657V exm1270762 16 89623301 [A/G] NM_003119 SPG7 EXON Missense_N730D exm1270769 16 89623388 [A/G] NM_003119 SPG7 EXON Missense_A759T exm2276799 16 89628799 [A/C] NM_000977,NM_001243130,NM_001243131,NM_033251 RPL13,RPL13,RPL13,RPL13 EXON Missense_N159K,Missense_N140K,Missense_N112K,Missense_N159K exm1270839 16 89644001 [T/C] NM_153636,NM_014427 CPNE7,CPNE7 EXON Missense_F77L,Missense_F77L exm1270851 16 89645337 [A/G] NM_153636,NM_014427 CPNE7,CPNE7 EXON Silent,Missense_A144T exm1270852 16 89645345 [A/C] NM_153636,NM_014427 CPNE7,CPNE7 EXON Silent,Missense_H146Q exm1270855 16 89645368 [G/C] NM_153636,NM_014427 CPNE7,CPNE7 EXON Silent,Nonsense_S154X exm1270856 16 89645374 [T/G] NM_153636,NM_014427 CPNE7,CPNE7 EXON Silent,Missense_L156R exm1270864 16 89649889 [A/G] NM_153636,NM_014427 CPNE7,CPNE7 EXON Silent,Missense_A179T exm1270866 16 89649905 [T/C] NM_153636,NM_014427 CPNE7,CPNE7 EXON Silent,Missense_T184M exm1270899 16 89653120 [T/C] NM_153636,NM_014427 CPNE7,CPNE7 EXON Missense_R275C,Missense_R350C exm1270928 16 89655120 [A/G] NM_153636,NM_014427 CPNE7,CPNE7 EXON Missense_R322Q,Missense_R397Q exm1270932 16 89655164 [A/G] NM_153636,NM_014427 CPNE7,CPNE7 EXON Missense_E337K,Missense_E412K exm1270961 16 89657660 [A/G] NM_153636,NM_014427 CPNE7,CPNE7 EXON Missense_K432E,Missense_K507E exm1270973 16 89661857 [A/G] NM_153636,NM_014427 CPNE7,CPNE7 EXON Missense_R462H,Missense_R537H exm1270978 16 89661931 [A/G] NM_153636,NM_014427 CPNE7,CPNE7 EXON Missense_D487N,Missense_D562N exm1270986 16 89662012 [A/G] NM_153636,NM_014427 CPNE7,CPNE7 Silent,Silent exm1271005 16 89663025 [T/C] NM_153636,NM_014427 CPNE7,CPNE7 EXON Missense_P558L,Missense_P633L exm-rs154659 16 89667337 [T/C] exm1271013 16 89696828 [A/G] NM_001128141,NM_004413 DPEP1,DPEP1 EXON Missense_G4R,Missense_G4R exm1271023 16 89702317 [T/C] NM_001128141,NM_004413 DPEP1,DPEP1 EXON Missense_H36Y,Missense_H36Y exm1271041 16 89702744 [A/G] NM_001128141,NM_004413 DPEP1,DPEP1 EXON Missense_V104M,Missense_V104M exm1271044 16 89702768 [T/A] NM_001128141,NM_004413 DPEP1,DPEP1 EXON Missense_Y112N,Missense_Y112N exm1271068 16 89703651 [A/G] NM_001128141,NM_004413 DPEP1,DPEP1 EXON Missense_D211N,Missense_D211N exm1271071 16 89703716 [G/C] NM_001128141,NM_004413 DPEP1,DPEP1 EXON Missense_I232M,Missense_I232M exm2276472 16 89703741 [A/G] NM_001128141,NM_004413 DPEP1,DPEP1 EXON Missense_V241M,Missense_V241M exm1271076 16 89703753 [T/C] NM_001128141,NM_004413 DPEP1,DPEP1 EXON Missense_R245W,Missense_R245W exm1271084 16 89703959 [T/C] NM_001128141,NM_004413 DPEP1,DPEP1 EXON Synonymous_A284A,Synonymous_A284A exm1271085 16 89703960 [A/G] NM_001128141,NM_004413 DPEP1,DPEP1 EXON Missense_D285N,Missense_D285N exm1271100 16 89704365 [G/C] NM_001128141,NM_004413 DPEP1,DPEP1 EXON Missense_E351Q,Missense_E351Q exm1271101 16 89704461 [T/C] NM_001128141,NM_004413 DPEP1,DPEP1 EXON Missense_A356V,Missense_A356V exm1271104 16 89704500 [T/C] NM_001128141,NM_004413 DPEP1,DPEP1 EXON Missense_P369L,Missense_P369L exm1271105 16 89704528 [T/G] NM_001128141,NM_004413 DPEP1,DPEP1 EXON Missense_R378S,Missense_R378S exm2274880 16 89704539 [A/G] NM_001128141,NM_004413 DPEP1,DPEP1 EXON Missense_G382D,Missense_G382D exm1271106 16 89704543 [A/C] NM_001128141,NM_004413 DPEP1,DPEP1 EXON Nonsense_Y383X,Nonsense_Y383X exm1271109 16 89704573 [A/C] NM_001128141,NM_004413 DPEP1,DPEP1 EXON Missense_H393Q,Missense_H393Q exm1271114 16 89704598 [A/G] NM_001128141,NM_004413 DPEP1,DPEP1 EXON Missense_A402T,Missense_A402T exm1271118 16 89712366 [C/G] NR_046418,NM_001083314,NM_002768 CHMP1A,CHMP1A,CHMP1A EXON Silent,Missense_A227P,Silent exm1271123 16 89712380 [A/G] NR_046418,NM_001083314,NM_002768 CHMP1A,CHMP1A,CHMP1A EXON Silent,Missense_A222V,Silent exm1271128 16 89712440 [A/C] NR_046418,NM_001083314,NM_002768 CHMP1A,CHMP1A,CHMP1A EXON Silent,Missense_R202L,Silent exm1271136 16 89712981 [T/C] NR_046418,NM_001083314,NM_002768 CHMP1A,CHMP1A,CHMP1A EXON Silent,Missense_R168H,Missense_V175M exm1271138 16 89712997 [A/G] NR_046418,NM_001083314,NM_002768 CHMP1A,CHMP1A,CHMP1A EXON Silent,Nonsense_R163X,Synonymous_P169P exm1271142 16 89713096 [A/G] NR_046418,NM_001083314,NM_002768 CHMP1A,CHMP1A,CHMP1A EXON Silent,Missense_H130Y,Synonymous_A136A exm1271150 16 89715770 [A/T] NR_046418,NM_001083314,NM_002768 CHMP1A,CHMP1A,CHMP1A EXON Silent,Missense_D74V,Missense_T81S exm1271151 16 89715801 [A/G] NR_046418,NM_001083314,NM_002768 CHMP1A,CHMP1A,CHMP1A EXON Silent,Missense_R64C,Synonymous_D70D exm1271152 16 89715807 [A/G] NR_046418,NM_001083314,NM_002768 CHMP1A,CHMP1A,CHMP1A EXON Silent,Missense_R62C,Synonymous_R68R exm1271153 16 89715813 [T/C] NR_046418,NM_001083314,NM_002768 CHMP1A,CHMP1A,CHMP1A EXON Silent,Missense_V60I,Synonymous_A66A exm1271157 16 89715851 [A/G] NR_046418,NM_001083314,NM_002768 CHMP1A,CHMP1A,CHMP1A EXON Silent,Missense_P47L,Missense_R54C exm1873244 16 89715864 [A/G] NR_046418,NM_001083314,NM_002768 CHMP1A,CHMP1A,CHMP1A EXON Silent,Nonsense_R43X,Synonymous_A49A exm1271158 16 89715875 [A/G] NR_046418,NM_001083314,NM_002768 CHMP1A,CHMP1A,CHMP1A EXON Silent,Missense_P39L,Missense_R46C exm1271164 16 89718031 [T/C] NR_046418,NM_001083314,NM_002768 CHMP1A,CHMP1A,CHMP1A EXON Silent,Missense_A11T,Synonymous_K17K exm1271166 16 89718049 [T/C] NR_046418,NM_001083314,NM_002768 CHMP1A,CHMP1A,CHMP1A EXON Silent,Missense_G5S,Synonymous_T11T exm1271178 16 89724661 [T/G] NM_153025,NR_073515,NM_001271910,NM_001271908,NM_001271907,NM_001271909,NR_073516 C16orf55,C16orf55,C16orf55,C16orf55,C16orf55,C16orf55,C16orf55 EXON Nonsense_E14X,Silent,Nonsense_E15X,Silent,Nonsense_E15X,Silent,Silent exm1271180 16 89724669 [T/G] NM_153025,NR_073515,NM_001271910,NM_001271908,NM_001271907,NM_001271909,NR_073516 C16orf55,C16orf55,C16orf55,C16orf55,C16orf55,C16orf55,C16orf55 EXON Missense_K16N,Silent,Missense_K17N,Silent,Missense_K17N,Silent,Silent exm1271184 16 89724689 [T/C] NM_153025,NR_073515,NM_001271910,NM_001271908,NM_001271907,NM_001271909,NR_073516 C16orf55,C16orf55,C16orf55,C16orf55,C16orf55,C16orf55,C16orf55 EXON Missense_V23A,Silent,Missense_V24A,Silent,Missense_V24A,Silent,Silent exm1271185 16 89724703 [A/G] NM_153025,NR_073515,NM_001271910,NM_001271908,NM_001271907,NM_001271909,NR_073516 C16orf55,C16orf55,C16orf55,C16orf55,C16orf55,C16orf55,C16orf55 EXON Missense_E28K,Silent,Missense_E29K,Silent,Missense_E29K,Silent,Silent exm1271189 16 89724755 [T/C] NM_153025,NR_073515,NM_001271910,NM_001271908,NM_001271907,NM_001271909,NR_073516 C16orf55,C16orf55,C16orf55,C16orf55,C16orf55,C16orf55,C16orf55 EXON Missense_S45L,Silent,Missense_S46L,Missense_S15L,Missense_S46L,Missense_S15L,Silent exm1271192 16 89724802 [T/C] NM_153025,NR_073515,NM_001271910,NM_001271908,NM_001271907,NM_001271909,NR_073516 C16orf55,C16orf55,C16orf55,C16orf55,C16orf55,C16orf55,C16orf55 EXON Missense_H61Y,Silent,Missense_H62Y,Missense_H31Y,Missense_H62Y,Missense_H31Y,Silent exm1271197 16 89735775 [T/C] NM_153025,NR_073515,NM_001271910,NM_001271908,NM_001271907,NM_001271909 C16orf55,C16orf55,C16orf55,C16orf55,C16orf55,C16orf55 EXON Missense_T97M,Silent,Silent,Missense_T67M,Missense_T98M,Missense_T67M exm1271202 16 89735823 [A/G] NM_153025,NR_073515,NM_001271910,NM_001271908,NM_001271907,NM_001271909 C16orf55,C16orf55,C16orf55,C16orf55,C16orf55,C16orf55 EXON Missense_R113Q,Silent,Silent,Missense_R83Q,Missense_R114Q,Missense_R83Q exm1271208 16 89735871 [T/C] NM_153025,NR_073515,NM_001271910,NM_001271908,NM_001271907,NM_001271909 C16orf55,C16orf55,C16orf55,C16orf55,C16orf55,C16orf55 EXON Missense_T129I,Silent,Silent,Missense_T99I,Missense_T130I,Missense_T99I exm-rs12443954 16 89741496 [A/G] exm1271222 16 89753146 [G/C] NM_052987,NR_027703,NM_001098533,NM_001160367,NR_027702,NM_052988 CDK10,CDK10,CDK10,CDK10,CDK10,CDK10 EXON Silent,Silent,Silent,Silent,Silent,Missense_Q10E exm1271225 16 89753169 [T/G] NM_052987,NR_027703,NM_001098533,NM_001160367,NR_027702,NM_052988 CDK10,CDK10,CDK10,CDK10,CDK10,CDK10 EXON Silent,Silent,Silent,Silent,Silent,Synonymous_R17R exm-rs258322 16 89755903 [A/G] NM_052987,NR_027703,NM_001098533,NM_001160367,NR_027702,NM_052988 CDK10,CDK10,CDK10,CDK10,CDK10,CDK10 Silent,Silent,Silent,Silent,Silent,Silent exm1271230 16 89756969 [T/C] NM_052987,NR_027703,NM_001098533,NM_001160367,NR_027702,NM_052988 CDK10,CDK10,CDK10,CDK10,CDK10,CDK10 EXON Silent,Silent,Silent,Silent,Silent,Missense_R57W exm1271231 16 89756970 [A/G] NM_052987,NR_027703,NM_001098533,NM_001160367,NR_027702,NM_052988 CDK10,CDK10,CDK10,CDK10,CDK10,CDK10 EXON Silent,Silent,Silent,Silent,Silent,Missense_R57Q exm1271240 16 89757905 [T/C] NM_052987,NR_027703,NM_001098533,NM_001160367,NR_027702,NM_052988 CDK10,CDK10,CDK10,CDK10,CDK10,CDK10 EXON Missense_P25L,Silent,Missense_P25L,Missense_P25L,Silent,Missense_P96L exm1271243 16 89758285 [T/C] NM_052987,NR_027703,NM_001098533,NM_001160367,NR_027702,NM_052988 CDK10,CDK10,CDK10,CDK10,CDK10,CDK10 EXON Missense_S65L,Silent,Missense_S65L,Missense_S65L,Silent,Missense_S136L exm1271253 16 89759723 [C/G] NM_052987,NR_027703,NM_001098533,NM_001160367,NR_027702,NM_052988 CDK10,CDK10,CDK10,CDK10,CDK10,CDK10 EXON Missense_C105S,Silent,Missense_C105S,Missense_C105S,Silent,Missense_C176S exm1271254 16 89759725 [A/G] NM_052987,NR_027703,NM_001098533,NM_001160367,NR_027702,NM_052988 CDK10,CDK10,CDK10,CDK10,CDK10,CDK10 EXON Missense_V106M,Silent,Missense_V106M,Missense_V106M,Silent,Missense_V177M exm1271257 16 89759807 [A/G] NM_052987,NR_027703,NM_001098533,NM_001160367,NR_027702,NM_052988 CDK10,CDK10,CDK10,CDK10,CDK10,CDK10 EXON Synonymous_A109A,Silent,Synonymous_A109A,Synonymous_A109A,Silent,Synonymous_A180A exm1271290 16 89761459 [A/G] NM_052987,NR_027703,NM_001098533,NM_001160367,NR_027702,NM_052988 CDK10,CDK10,CDK10,CDK10,CDK10,CDK10 EXON Missense_M234V,Silent,Missense_M234V,Missense_M234V,Silent,Missense_M305V exm1271301 16 89762056 [A/G] NM_052987,NR_027703,NM_001098533,NM_001160367,NR_027702,NM_052988 CDK10,CDK10,CDK10,CDK10,CDK10,CDK10 EXON Silent,Silent,Missense_A270T,Missense_A276T,Silent,Missense_A347T exm1271304 16 89762066 [T/C] NM_052987,NR_027703,NM_001098533,NM_001160367,NR_027702,NM_052988 CDK10,CDK10,CDK10,CDK10,CDK10,CDK10 EXON Silent,Silent,Missense_T273I,Missense_T279I,Silent,Missense_T350I exm1271306 16 89762086 [T/C] NM_052987,NR_027703,NM_001098533,NM_001160367,NR_027702,NM_052988 CDK10,CDK10,CDK10,CDK10,CDK10,CDK10 EXON Silent,Silent,Missense_R280C,Missense_R286C,Silent,Missense_R357C exm1271307 16 89762090 [A/G] NM_052987,NR_027703,NM_001098533,NM_001160367,NR_027702,NM_052988 CDK10,CDK10,CDK10,CDK10,CDK10,CDK10 EXON Silent,Silent,Missense_C281Y,Missense_C287Y,Silent,Missense_C358Y exm1271309 16 89762136 [A/G] NM_052987,NR_027703,NM_001098533,NM_001160367,NR_027702,NM_052988 CDK10,CDK10,CDK10,CDK10,CDK10,CDK10 EXON Silent,Silent,Silent,Silent,Silent,Silent exm1271313 16 89762170 [A/G] NM_052987,NR_027703,NM_001098533,NM_001160367,NR_027702,NM_052988 CDK10,CDK10,CDK10,CDK10,CDK10,CDK10 EXON Missense_R269H,Silent,Silent,Silent,Silent,Silent exm1271327 16 89763791 [T/C] NM_152339 SPATA2L EXON Missense_R409H exm1271329 16 89763810 [A/G] NM_152339 SPATA2L EXON Missense_R403W exm1271331 16 89763851 [T/C] NM_152339 SPATA2L EXON Missense_R389H exm1271348 16 89764076 [T/C] NM_152339 SPATA2L EXON Missense_R314H exm1271350 16 89764100 [A/G] NM_152339 SPATA2L EXON Missense_A306V exm1271360 16 89764299 [G/C] NM_152339 SPATA2L EXON Missense_A240P exm1271369 16 89764485 [A/G] NM_152339 SPATA2L EXON Missense_P178S exm1271376 16 89764596 [T/C] NM_152339 SPATA2L EXON Missense_A141T exm1271389 16 89764679 [C/G] NM_152339 SPATA2L EXON Missense_G113A exm1271397 16 89774288 [T/C] NM_004913 VPS9D1 EXON Missense_R626Q exm1271411 16 89774899 [T/G] NM_004913 VPS9D1 EXON Missense_L580M exm1271430 16 89776269 [G/C] NM_004913 VPS9D1 EXON Missense_T435R exm1271432 16 89776278 [T/C] NM_004913 VPS9D1 EXON Missense_G432D exm1873343 16 89776279 [T/C] NM_004913 VPS9D1 EXON Missense_G432S exm1271439 16 89777030 [C/G] NM_004913 VPS9D1 EXON Missense_L408V exm1271443 16 89777078 [A/G] NM_004913 VPS9D1 EXON Missense_R392W exm1271444 16 89777123 [T/C] NM_004913 VPS9D1 EXON Missense_D377N exm1271453 16 89777417 [T/G] NM_004913 VPS9D1 EXON Missense_L279I exm1271455 16 89777757 [T/C] NM_004913 VPS9D1 EXON Missense_S271G exm1271459 16 89777798 [C/G] NM_004913 VPS9D1 EXON Missense_A257G exm1271461 16 89778290 [A/G] NM_004913,NR_036480 VPS9D1,LOC100128881 EXON Synonymous_H249H,Silent exm1271462 16 89778316 [T/C] NM_004913,NR_036480 VPS9D1,LOC100128881 EXON Missense_A241T,Silent exm1271469 16 89778906 [T/C] NM_004913,NR_036480 VPS9D1,LOC100128881 EXON Missense_M190V,Silent exm1271486 16 89782976 [T/C] NM_004913,NR_036480 VPS9D1,LOC100128881 EXON Missense_G109S,Silent exm1271524 16 89789073 [A/G] NM_152287,NM_001113525 ZNF276,ZNF276 EXON Missense_V39I,Missense_V114I exm1271538 16 89789565 [C/G] NM_152287,NM_001113525 ZNF276,ZNF276 EXON Missense_T102R,Missense_T177R exm2252822 16 89789741 [T/C] NM_152287,NM_001113525 ZNF276,ZNF276 EXON Synonymous_C135C,Synonymous_C210C exm1271546 16 89789742 [A/G] NM_152287,NM_001113525 ZNF276,ZNF276 EXON Missense_G136R,Missense_G211R exm1271559 16 89789898 [T/C] NM_152287,NM_001113525 ZNF276,ZNF276 EXON Missense_W188R,Missense_W263R exm1271567 16 89790034 [C/G] NM_152287,NM_001113525 ZNF276,ZNF276 EXON Missense_A233G,Missense_A308G exm1873382 16 89790048 [G/C] NM_152287,NM_001113525 ZNF276,ZNF276 EXON Missense_D238H,Missense_D313H exm1271579 16 89793731 [T/C] NM_152287,NM_001113525 ZNF276,ZNF276 EXON Missense_R276W,Missense_R351W exm1271583 16 89795647 [A/G] NM_152287,NM_001113525 ZNF276,ZNF276 EXON Missense_V289I,Missense_V364I exm1271593 16 89799804 [A/C] NM_152287,NM_001113525 ZNF276,ZNF276 EXON Missense_K347Q,Missense_K422Q exm1271596 16 89799934 [T/C] NM_152287,NM_001113525 ZNF276,ZNF276 EXON Missense_T367M,Missense_T442M exm1271597 16 89799939 [A/G] NM_152287,NM_001113525 ZNF276,ZNF276 EXON Missense_V369M,Missense_V444M exm1271606 16 89800428 [A/G] NM_152287,NM_001113525 ZNF276,ZNF276 EXON Missense_V411M,Missense_V486M exm1271618 16 89804488 [A/G] NM_152287,NM_001113525,NM_000135 ZNF276,ZNF276,FANCA EXON Missense_G485D,Missense_G560D,Silent exm1271627 16 89804624 [C/G] NM_152287,NM_001113525,NM_000135 ZNF276,ZNF276,FANCA EXON Missense_E530D,Missense_E605D,Silent exm1271640 16 89805074 [T/C] NM_152287,NM_001113525,NM_000135 ZNF276,ZNF276,FANCA EXON Silent,Silent,Missense_A1435T exm1271651 16 89805301 [G/C] NM_152287,NM_001113525,NM_000135 ZNF276,ZNF276,FANCA EXON Silent,Silent,Missense_H1417D exm1271652 16 89805325 [A/G] NM_152287,NM_001113525,NM_000135 ZNF276,ZNF276,FANCA EXON Silent,Silent,Missense_R1409W exm1271655 16 89805373 [T/C] NM_152287,NM_001113525,NM_000135 ZNF276,ZNF276,FANCA EXON Silent,Silent,Missense_V1393M exm1271666 16 89805672 [T/C] NM_152287,NM_001113525,NM_000135 ZNF276,ZNF276,FANCA EXON Silent,Silent,Missense_A1346T exm1271673 16 89805914 [T/C] NM_152287,NM_001113525,NM_000135 ZNF276,ZNF276,FANCA EXON Silent,Silent,Missense_T1328A exm1271691 16 89806477 [T/C] NM_152287,NM_001113525,NM_000135 ZNF276,ZNF276,FANCA EXON Silent,Silent,Missense_V1287I exm1271723 16 89809329 [T/G] NM_000135 FANCA EXON Missense_A1215D exm1271724 16 89809336 [C/G] NM_000135 FANCA EXON Missense_P1213A exm1271734 16 89811469 [A/G] NM_000135 FANCA EXON Missense_P1175L exm1271740 16 89813075 [A/G] NM_000135 FANCA EXON Missense_R1144W exm1271741 16 89813078 [G/C] NM_000135 FANCA EXON Missense_L1143V exm1271742 16 89813093 [C/G] NM_000135 FANCA EXON Missense_L1138V exm1271757 16 89815152 [A/G] NM_000135 FANCA EXON Missense_S1088F exm2225619 16 89818580 [T/C] NM_000135 FANCA EXON Missense_R1011H exm1271781 16 89818586 [C/G] NM_000135 FANCA EXON Missense_G1009A exm-rs12931267 16 89818732 [C/G] NM_000135 FANCA Silent exm1271792 16 89825107 [C/G] NM_000135 FANCA EXON Missense_D953E exm1271809 16 89831418 [G/C] NM_000135 FANCA EXON Missense_E886D exm2225620 16 89831451 [G/C] NM_000135 FANCA EXON Missense_L875F exm1271818 16 89833576 [C/G] NM_000135 FANCA EXON Missense_S858R exm1271824 16 89836323 [T/C] NM_000135 FANCA EXON Missense_G809D exm1271837 16 89836978 [A/G] NM_000135 FANCA EXON Missense_P739L exm1271842 16 89838086 [A/C] NM_000135 FANCA EXON Missense_M717I exm1271844 16 89838111 [A/G] NM_000135 FANCA EXON Missense_P709L exm1271848 16 89838136 [T/C] NM_000135 FANCA EXON Missense_K701E exm1271854 16 89838216 [A/G] NM_000135 FANCA EXON Missense_S674L exm1271862 16 89839765 [C/G] NM_000135 FANCA EXON Missense_P643R exm1271863 16 89839766 [G/C] NM_000135 FANCA EXON Missense_P643A exm1271868 16 89842176 [G/C] NM_000135 FANCA EXON Missense_C625S exm1271887 16 89845371 [T/C] NM_000135 FANCA EXON Missense_A586T exm1271889 16 89845377 [C/G] NM_000135 FANCA EXON Missense_L584V exm1271900 16 89849480 [T/C] NM_000135 FANCA EXON Missense_G501S exm-rs16966142 16 89851033 [T/C] NM_000135 FANCA Silent exm1271911 16 89857830 [A/G] NM_000135 FANCA EXON Missense_S447L exm1271919 16 89857935 [A/G] NM_000135 FANCA EXON Missense_A412V exm1271922 16 89858406 [T/C] NM_000135 FANCA EXON Missense_H385R exm1271939 16 89862388 [A/G] NM_000135 FANCA EXON Missense_I311T exm1271961 16 89865593 [C/G] NM_000135,NM_001018112 FANCA,FANCA EXON Missense_H292D,Missense_H292D exm1271962 16 89865598 [T/G] NM_000135,NM_001018112 FANCA,FANCA EXON Missense_S290Y,Missense_S290Y exm1271964 16 89865610 [T/C] NM_000135,NM_001018112 FANCA,FANCA EXON Missense_Q286R,Missense_Q286R exm1271972 16 89866043 [T/C] NM_000135,NM_001018112 FANCA,FANCA EXON Missense_T266A,Missense_T266A exm1271979 16 89869704 [T/C] NM_000135,NM_001018112 FANCA,FANCA EXON Missense_D252G,Missense_D252G exm1271980 16 89869705 [T/C] NM_000135,NM_001018112 FANCA,FANCA EXON Missense_D252N,Missense_D252N exm1271989 16 89871774 [A/G] NM_000135,NM_001018112 FANCA,FANCA EXON Missense_S208L,Missense_S208L exm1271990 16 89871796 [A/G] NM_000135,NM_001018112 FANCA,FANCA EXON Missense_P201S,Missense_P201S exm1271998 16 89874756 [A/G] NM_000135,NM_001018112 FANCA,FANCA EXON Missense_A181V,Missense_A181V exm1272012 16 89877200 [C/G] NM_000135,NM_001018112 FANCA,FANCA EXON Missense_S146C,Missense_S146C exm1873560 16 89877386 [A/G] NM_000135,NM_001018112 FANCA,FANCA EXON Missense_T126M,Missense_T126M exm1272026 16 89881011 [T/G] NM_000135,NM_001018112 FANCA,FANCA EXON Missense_P67Q,Missense_P67Q exm1272029 16 89882317 [T/G] NM_000135,NM_001018112 FANCA,FANCA EXON Missense_S53R,Missense_S53R exm1272032 16 89882341 [A/C] NM_000135,NM_001018112 FANCA,FANCA EXON Nonsense_E45X,Nonsense_E45X exm1272033 16 89882358 [T/C] NM_000135,NM_001018112 FANCA,FANCA EXON Missense_R39K,Missense_R39K exm1272061 16 89911747 [A/G] NM_032451 SPIRE2 EXON Missense_V88M exm1272062 16 89911774 [A/G] NM_032451 SPIRE2 Silent exm1272070 16 89916774 [C/G] NM_032451 SPIRE2 EXON Missense_E117D exm1873608 16 89920898 [G/C] NM_032451 SPIRE2 EXON Missense_R244G exm2225627 16 89920932 [A/G] NM_032451 SPIRE2 EXON Missense_R255H exm1272101 16 89921057 [A/G] NM_032451 SPIRE2 EXON Missense_M297V exm1272105 16 89922029 [T/C] NM_032451 SPIRE2 EXON Missense_R305W exm1272123 16 89924847 [T/C] NM_032451 SPIRE2 EXON Missense_R402C exm1272138 16 89925691 [A/C] NM_032451 SPIRE2 EXON Missense_P464Q exm1272142 16 89925730 [T/C] NM_032451 SPIRE2 EXON Missense_A477V exm2274881 16 89927114 [C/G] NM_032451 SPIRE2 EXON Missense_D496H exm1272149 16 89927151 [T/C] NM_032451 SPIRE2 EXON Missense_S508L exm1272150 16 89927183 [A/G] NM_032451 SPIRE2 EXON Missense_D519N exm1272151 16 89927195 [G/C] NM_032451 SPIRE2 EXON Missense_L523V exm1272155 16 89929944 [T/C] NM_032451 SPIRE2 EXON Missense_R546C exm1272160 16 89930239 [T/C] NM_032451 SPIRE2 EXON Missense_S583L exm1272181 16 89936621 [T/C] NM_032451 SPIRE2 EXON Missense_R696C exm1272191 16 89940166 [T/G] NM_014972 TCF25 EXON Missense_D31Y exm1272193 16 89940232 [A/C] NM_014972 TCF25 EXON Missense_K53Q exm1272197 16 89949782 [A/T] NM_014972 TCF25 EXON Missense_D72E exm1272209 16 89952262 [A/G] NM_014972 TCF25 EXON Missense_G146R exm1272223 16 89958601 [A/G] NM_014972 TCF25 EXON Synonymous_R205R exm1873706 16 89965023 [A/C] NM_014972 TCF25 EXON Missense_R361S exm1272256 16 89965261 [A/G] NM_014972 TCF25 EXON Missense_R401H exm1873718 16 89967064 [T/C] NM_014972 TCF25 EXON Missense_L415F exm1272264 16 89967134 [A/G] NM_014972 TCF25 EXON Missense_C438Y exm1272286 16 89971416 [A/G] NM_014972 TCF25 EXON Missense_A514T exm1272293 16 89972604 [A/G] NM_014972 TCF25 EXON Missense_R544Q exm1272300 16 89972691 [T/C] NM_014972 TCF25 EXON Missense_P573L exm1272311 16 89977051 [T/A] NM_014972 TCF25 EXON Missense_L618M exm1272336 16 89985733 [T/C] NM_002386 MC1R EXON Nonsense_Q23X exm1272340 16 89985778 [A/G] NM_002386 MC1R EXON Missense_V38M exm1272343 16 89985799 [T/C] NM_002386 MC1R EXON Missense_F45L exm1272346 16 89985835 [A/G] NM_002386 MC1R EXON Missense_A57T exm1272352 16 89985866 [A/G] NM_002386 MC1R EXON Missense_R67Q exm1272357 16 89985918 [A/C] NM_002386 MC1R EXON Missense_D84E exm1272359 16 89985940 [A/G] NM_002386 MC1R EXON Missense_V92M exm1272360 16 89985950 [T/C] NM_002386 MC1R EXON Missense_T95M exm1873771 16 89985976 [A/G] NM_002386 MC1R EXON Missense_G104S exm1272363 16 89985998 [T/C] NM_002386 MC1R EXON Missense_A111V exm1272367 16 89986025 [T/C] NM_002386 MC1R EXON Missense_I120T exm1272370 16 89986030 [A/G] NM_002386 MC1R EXON Missense_V122M exm1272376 16 89986091 [A/G] NM_002386 MC1R EXON Missense_R142H exm1272378 16 89986117 [T/C] NM_002386 MC1R EXON Missense_R151C exm1272383 16 89986130 [T/C] NM_002386 MC1R EXON Missense_I155T exm1272386 16 89986144 [T/C] NM_002386 MC1R EXON Missense_R160W exm1873775 16 89986252 [T/C] NM_002386 MC1R EXON Missense_F196L exm1272410 16 89986303 [T/C] NM_002386 MC1R EXON Missense_R213W exm2252823 16 89986383 [T/C] NM_002386 MC1R EXON Synonymous_G239G exm1272425 16 89986432 [T/C] NM_002386 MC1R EXON Missense_P256S exm1272433 16 89986498 [A/G] NM_002386 MC1R EXON Missense_K278E exm1873777 16 89986503 [A/C] NM_002386 MC1R EXON Missense_N279K exm1272435 16 89986508 [A/G] NM_002386 MC1R EXON Missense_N281S exm2267922 16 89998794 [A/G] NM_001197181,NM_006086 TUBB3,TUBB3 Silent,Silent exm1272521 16 90015976 [A/C] NM_207514,NM_001242818,NM_001242821,NM_001242817,NM_001242820,NM_001242816,NM_001242822,NM_017702,NM_001242819 DEF8,DEF8,DEF8,DEF8,DEF8,DEF8,DEF8,DEF8,DEF8 EXON Missense_L35I,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm1272542 16 90023985 [T/C] NM_207514,NM_001242818,NM_001242821,NM_001242817,NM_001242820,NM_001242816,NM_001242822,NM_017702,NM_001242819 DEF8,DEF8,DEF8,DEF8,DEF8,DEF8,DEF8,DEF8,DEF8 EXON Synonymous_L158L,Synonymous_L97L,Synonymous_L97L,Synonymous_L37L,Synonymous_L97L,Synonymous_L87L,Synonymous_L97L,Synonymous_L97L,Synonymous_L97L exm1272545 16 90024048 [T/C] NM_207514,NM_001242818,NM_001242821,NM_001242817,NM_001242820,NM_001242816,NM_001242822,NM_017702,NM_001242819 DEF8,DEF8,DEF8,DEF8,DEF8,DEF8,DEF8,DEF8,DEF8 EXON Synonymous_L179L,Synonymous_L118L,Synonymous_L118L,Synonymous_L58L,Synonymous_L118L,Synonymous_L108L,Synonymous_L118L,Synonymous_L118L,Synonymous_L118L exm1272548 16 90025429 [A/G] NM_207514,NM_001242818,NM_001242821,NM_001242817,NM_001242820,NM_001242816,NM_001242822,NM_017702,NM_001242819 DEF8,DEF8,DEF8,DEF8,DEF8,DEF8,DEF8,DEF8,DEF8 EXON Missense_N188S,Missense_N127S,Missense_N127S,Missense_N67S,Missense_N127S,Missense_N117S,Missense_N127S,Missense_N127S,Missense_N127S exm1272557 16 90025620 [T/C] NM_207514,NM_001242818,NM_001242821,NM_001242817,NM_001242820,NM_001242816,NM_001242822,NM_017702,NM_001242819 DEF8,DEF8,DEF8,DEF8,DEF8,DEF8,DEF8,DEF8,DEF8 EXON Silent,Silent,Missense_R191C,Silent,Silent,Silent,Missense_R191C,Missense_R191C,Silent exm1272558 16 90025621 [A/G] NM_207514,NM_001242818,NM_001242821,NM_001242817,NM_001242820,NM_001242816,NM_001242822,NM_017702,NM_001242819 DEF8,DEF8,DEF8,DEF8,DEF8,DEF8,DEF8,DEF8,DEF8 EXON Silent,Silent,Missense_R191H,Silent,Silent,Silent,Missense_R191H,Missense_R191H,Silent exm1272561 16 90025640 [C/G] NM_207514,NM_001242818,NM_001242821,NM_001242817,NM_001242820,NM_001242816,NM_001242822,NM_017702,NM_001242819 DEF8,DEF8,DEF8,DEF8,DEF8,DEF8,DEF8,DEF8,DEF8 EXON Silent,Silent,Missense_M197I,Silent,Silent,Silent,Missense_M197I,Missense_M197I,Silent exm1272565 16 90027489 [T/C] NM_207514,NM_001242818,NM_001242817,NM_001242820,NM_001242816,NM_001242819 DEF8,DEF8,DEF8,DEF8,DEF8,DEF8 EXON Missense_A283V,Missense_A222V,Missense_A162V,Missense_A222V,Missense_A212V,Missense_A222V exm1272573 16 90028480 [T/C] NM_207514,NM_001242818,NM_001242817,NM_001242820,NM_001242816,NM_001242819 DEF8,DEF8,DEF8,DEF8,DEF8,DEF8 EXON Missense_R351W,Missense_R290W,Missense_R230W,Missense_R290W,Missense_R280W,Missense_R290W exm1272580 16 90030641 [A/G] NM_207514,NM_001242818,NM_001242817,NM_001242820,NM_001242816,NM_001242819 DEF8,DEF8,DEF8,DEF8,DEF8,DEF8 EXON Missense_V417M,Missense_V356M,Missense_V296M,Missense_V356M,Missense_V346M,Missense_V339M exm1272582 16 90030653 [T/C] NM_207514,NM_001242818,NM_001242817,NM_001242820,NM_001242816,NM_001242819 DEF8,DEF8,DEF8,DEF8,DEF8,DEF8 EXON Missense_R421C,Missense_R360C,Missense_R300C,Missense_R360C,Missense_R350C,Missense_R343C exm1272591 16 90032281 [T/C] NM_207514,NM_001242818,NM_001242817,NM_001242820,NM_001242816,NM_001242819 DEF8,DEF8,DEF8,DEF8,DEF8,DEF8 EXON Synonymous_Y483Y,Synonymous_Y422Y,Synonymous_Y362Y,Synonymous_Y422Y,Synonymous_Y412Y,Synonymous_Y405Y exm1272601 16 90037828 [A/G] NM_145039 CENPBD1 EXON Missense_T168I exm1272609 16 90037882 [T/C] NM_145039 CENPBD1 EXON Missense_C150Y exm1272616 16 90038114 [A/G] NM_145039 CENPBD1 EXON Missense_P73S exm-rs4785763 16 90066936 [A/C] NR_003228 AFG3L1P EXON Silent exm1272675 16 90075318 [T/C] NM_024043,NM_001042610 DBNDD1,DBNDD1 EXON Missense_V85I,Missense_V65I exm1272680 16 90075721 [A/G] NM_024043,NM_001042610 DBNDD1,DBNDD1 EXON Missense_P70L,Missense_P50L exm1272683 16 90075750 [A/C] NM_024043,NM_001042610 DBNDD1,DBNDD1 EXON Missense_E60D,Missense_E40D exm1272691 16 90075814 [A/G] NM_024043,NM_001042610 DBNDD1,DBNDD1 EXON Missense_P39L,Missense_P19L exm1272695 16 90076406 [T/C] NM_024043,NM_001042610 DBNDD1,DBNDD1 EXON Nonsense_W17X,Silent exm-rs11648785 16 90084561 [T/C] NM_001042610 DBNDD1 Silent exm1272703 16 90094071 [A/G] NM_001481,NR_023348 GAS8,GAS8 EXON Missense_K11E,Silent exm1272704 16 90094078 [A/G] NM_001481,NR_023348 GAS8,GAS8 EXON Missense_K13R,Silent exm1272722 16 90095549 [T/C] NM_001481,NR_023348,NM_001214 GAS8,GAS8,C16orf3 EXON Silent,Silent,Missense_V68I exm1272723 16 90095558 [T/C] NM_001481,NR_023348,NM_001214 GAS8,GAS8,C16orf3 EXON Silent,Silent,Missense_G65S exm1272740 16 90095620 [A/G] NM_001481,NR_023348,NM_001214 GAS8,GAS8,C16orf3 EXON Silent,Silent,Missense_V44A exm1272746 16 90095654 [T/G] NM_001481,NR_023348,NM_001214 GAS8,GAS8,C16orf3 EXON Silent,Silent,Missense_Q33K exm1272749 16 90095690 [T/C] NM_001481,NR_023348,NM_001214 GAS8,GAS8,C16orf3 EXON Silent,Silent,Missense_A21T exm1272757 16 90097753 [A/G] NM_001481,NR_023348 GAS8,GAS8 EXON Missense_R46Q,Silent exm1272761 16 90097860 [T/C] NM_001481,NR_023348 GAS8,GAS8 EXON Missense_R82W,Silent exm1272762 16 90097861 [A/G] NM_001481,NR_023348 GAS8,GAS8 EXON Missense_R82Q,Silent exm1272763 16 90097866 [A/C] NM_001481,NR_023348 GAS8,GAS8 EXON Missense_M84L,Silent exm1272764 16 90097893 [A/G] NM_001481,NR_023348 GAS8,GAS8 EXON Missense_V93M,Silent exm2276833 16 90099126 [A/G] NM_001481,NR_023348 GAS8,GAS8 EXON Missense_V97M,Silent exm1272768 16 90099159 [A/G] NM_001481,NR_023348 GAS8,GAS8 EXON Missense_E108K,Silent exm1272772 16 90099244 [C/G] NM_001481,NR_023348 GAS8,GAS8 EXON Missense_S136T,Silent exm1272774 16 90099313 [T/A] NM_001481,NR_023348 GAS8,GAS8 EXON Missense_V159E,Silent exm1272778 16 90099328 [A/G] NM_001481,NR_023348 GAS8,GAS8 EXON Missense_R164Q,Silent exm2275250 16 90102789 [A/C] NM_001481,NR_023348 GAS8,GAS8 EXON Missense_E184A,Silent exm1272781 16 90102796 [C/G] NM_001481,NR_023348 GAS8,GAS8 EXON Missense_E186D,Silent exm1272785 16 90102833 [A/G] NM_001481,NR_023348 GAS8,GAS8 EXON Missense_E199K,Silent exm1272803 16 90103659 [A/G] NM_001481,NR_023348 GAS8,GAS8 EXON Missense_R259Q,Silent exm1272804 16 90103672 [A/C] NM_001481,NR_023348 GAS8,GAS8 EXON Missense_D263E,Silent exm1272805 16 90103691 [C/G] NM_001481,NR_023348 GAS8,GAS8 EXON Missense_A270P,Silent exm1272809 16 90103716 [A/G] NM_001481,NR_023348 GAS8,GAS8 EXON Missense_R278H,Silent exm1272830 16 90106769 [A/G] NM_001481,NR_023348,NR_027335 GAS8,GAS8,LOC100130015 EXON Missense_Q358R,Silent,Silent exm1272832 16 90106802 [A/G] NM_001481,NR_023348,NR_027335 GAS8,GAS8,LOC100130015 EXON Missense_R369H,Silent,Silent exm1873936 16 90106814 [T/C] NM_001481,NR_023348,NR_027335 GAS8,GAS8,LOC100130015 EXON Missense_A373V,Silent,Silent exm1272839 16 90106906 [T/C] NM_001481,NR_023348,NR_027335 GAS8,GAS8,LOC100130015 EXON Missense_R404C,Silent,Silent exm1272840 16 90106910 [A/G] NM_001481,NR_023348,NR_027335 GAS8,GAS8,LOC100130015 EXON Missense_K405R,Silent,Silent exm1272845 16 90108911 [A/G] NM_001481,NR_023348,NR_027335 GAS8,GAS8,LOC100130015 EXON Missense_D419N,Silent,Silent exm1272888 16 90124753 [T/C] NM_052996,NM_001098173 PRDM7,PRDM7 EXON Silent,Missense_A475T exm1272889 16 90124768 [T/C] NM_052996,NM_001098173 PRDM7,PRDM7 EXON Synonymous_A169A,Missense_N470D exm1272890 16 90124772 [A/G] NM_052996,NM_001098173 PRDM7,PRDM7 EXON Missense_A168V,Synonymous_S468S exm1272891 16 90124803 [A/C] NM_052996,NM_001098173 PRDM7,PRDM7 EXON Nonsense_E158X,Missense_R458I exm1272897 16 90124896 [A/G] NM_052996,NM_001098173 PRDM7,PRDM7 EXON Missense_F127L,Missense_F427S exm1272898 16 90126749 [T/C] NM_052996,NM_001098173 PRDM7,PRDM7 EXON Silent,Synonymous_E411E exm1272901 16 90126859 [T/C] NM_052996,NM_001098173 PRDM7,PRDM7 EXON Silent,Missense_E375K exm1272919 16 90128345 [T/C] NM_052996,NM_001098173 PRDM7,PRDM7 EXON Missense_S83N,Missense_S289N exm1272920 16 90128376 [A/G] NM_052996,NM_001098173 PRDM7,PRDM7 EXON Nonsense_R73X,Nonsense_R279X exm1873956 16 90128558 [A/G] NM_052996,NM_001098173 PRDM7,PRDM7 EXON Missense_A12V,Missense_A218V exm1272934 16 90130109 [A/G] NM_001098173 PRDM7 EXON Missense_L140P exm1272937 16 90130136 [T/C] NM_001098173 PRDM7 EXON Missense_R131K exm1272939 16 90130145 [G/C] NM_001098173 PRDM7 EXON Missense_S128C exm1272940 16 90130152 [T/A] NM_001098173 PRDM7 EXON Missense_N126Y exm1272949 16 90142260 [T/C] NM_001098173 PRDM7 EXON Missense_R20Q exm1272993 17 11885 [A/G] NM_003585 DOC2B EXON Missense_R209C exm1272998 17 22406 [A/G] NM_003585 DOC2B EXON Synonymous_T125T exm-rs7217319 17 38924 [T/C] exm1273007 17 63683 [A/G] NM_001190411,NM_006987,NM_001190413,NM_001190412 RPH3AL,RPH3AL,RPH3AL,RPH3AL EXON Missense_A303V,Missense_A303V,Missense_A274V,Missense_A274V exm1273033 17 69519 [T/C] NM_001190411,NM_006987,NM_001190413,NM_001190412 RPH3AL,RPH3AL,RPH3AL,RPH3AL EXON Missense_S208G,Missense_S208G,Missense_S179G,Missense_S179G exm1898873 17 69528 [T/C] NM_001190411,NM_006987,NM_001190413,NM_001190412 RPH3AL,RPH3AL,RPH3AL,RPH3AL Silent,Silent,Silent,Silent exm1273037 17 96938 [G/C] NM_001190411,NM_006987,NM_001190413,NM_001190412 RPH3AL,RPH3AL,RPH3AL,RPH3AL EXON Missense_E193Q,Missense_E193Q,Missense_E164Q,Missense_E164Q exm1273040 17 96951 [A/C] NM_001190411,NM_006987,NM_001190413,NM_001190412 RPH3AL,RPH3AL,RPH3AL,RPH3AL EXON Missense_E188D,Missense_E188D,Missense_E159D,Missense_E159D exm1273059 17 169236 [A/G] NM_001190411,NM_006987,NM_001190413,NM_001190412 RPH3AL,RPH3AL,RPH3AL,RPH3AL EXON Missense_S109L,Missense_S109L,Missense_S109L,Missense_S109L exm1273071 17 171085 [T/C] NM_001190411,NM_006987,NM_001190413,NM_001190412 RPH3AL,RPH3AL,RPH3AL,RPH3AL EXON Missense_V67I,Missense_V67I,Missense_V67I,Missense_V67I exm2225865 17 183725 [T/C] NM_001190411,NM_006987,NM_001190413,NM_001190412 RPH3AL,RPH3AL,RPH3AL,RPH3AL EXON Silent,Silent,Silent,Silent exm1273101 17 260299 [A/G] NM_001013672 C17orf97 EXON Missense_E56K exm1879365 17 263015 [T/G] NM_001013672 C17orf97 EXON Missense_E127D exm1273123 17 263145 [T/C] NM_001013672 C17orf97 EXON Missense_R171C exm1273211 17 263826 [A/G] NM_001013672 C17orf97 EXON Missense_E398K exm1273215 17 292985 [T/C] NM_182705 FAM101B EXON Missense_G136R exm1273225 17 293084 [T/C] NM_182705 FAM101B EXON Missense_V103I exm1273231 17 293138 [A/G] NM_182705 FAM101B EXON Nonsense_R85X exm1273233 17 293150 [A/G] NM_182705 FAM101B EXON Nonsense_R81X exm1273241 17 295649 [A/G] NM_182705 FAM101B EXON Missense_P28L exm1273247 17 295724 [G/C] NM_182705 FAM101B EXON Missense_S3T exm1273261 17 436105 [T/C] NM_001128159,NM_018289 VPS53,VPS53 EXON Missense_I688V,Missense_I659V exm1273266 17 436151 [A/G] NM_001128159,NM_018289 VPS53,VPS53 EXON Synonymous_N672N,Synonymous_N643N exm1890711 17 465956 [A/G] NM_001128159,NM_018289 VPS53,VPS53 EXON Missense_V448A,Missense_V419A exm1273309 17 505035 [T/C] NM_001128159,NM_018289 VPS53,VPS53 EXON Synonymous_Q406Q,Synonymous_Q377Q exm1893176 17 505057 [A/G] NM_001128159,NM_018289 VPS53,VPS53 EXON Missense_T399M,Missense_T370M exm1273311 17 505105 [T/C] NM_001128159,NM_018289 VPS53,VPS53 EXON Missense_N383S,Missense_N354S exm1273312 17 505129 [A/C] NM_001128159,NM_018289 VPS53,VPS53 EXON Missense_L375R,Missense_L346R exm1273329 17 526907 [T/G] NM_001128159,NM_018289 VPS53,VPS53 EXON Missense_L328I,Missense_L299I exm1273353 17 600663 [A/G] NM_001128159,NM_018289 VPS53,VPS53 EXON Missense_R94W,Missense_R94W exm1895552 17 602613 [A/G] NM_001128159,NM_018289 VPS53,VPS53 EXON Missense_A59V,Missense_A59V exm2272475 17 632905 [T/C] exm1273385 17 641096 [T/G] NM_024792 FAM57A EXON Missense_A73S exm1273387 17 641131 [A/G] NM_024792 FAM57A EXON Missense_M84I exm1273406 17 643791 [T/C] NM_024792 FAM57A EXON Missense_T152M exm1273409 17 644611 [A/G] NM_024792 FAM57A EXON Missense_R192Q exm2273539 17 644986 [A/C] NM_024792 FAM57A EXON Silent exm1273419 17 648156 [T/C] NM_015721 GEMIN4 EXON Missense_G1043S exm1273421 17 648186 [A/G] NM_015721 GEMIN4 EXON Missense_R1033C exm1273424 17 648215 [T/C] NM_015721 GEMIN4 EXON Missense_S1023N exm1273425 17 648251 [T/C] NM_015721 GEMIN4 EXON Missense_C1011Y exm1273428 17 648279 [A/G] NM_015721 GEMIN4 EXON Missense_Y1002H exm1273429 17 648309 [T/C] NM_015721 GEMIN4 EXON Missense_M992V exm1273436 17 648498 [T/C] NM_015721 GEMIN4 EXON Missense_D929N exm1273443 17 648664 [T/G] NM_015721 GEMIN4 EXON Missense_H873Q exm1273444 17 648672 [A/G] NM_015721 GEMIN4 EXON Missense_R871C exm1897416 17 648937 [C/G] NM_015721 GEMIN4 EXON Missense_F782L exm1273458 17 649010 [G/C] NM_015721 GEMIN4 EXON Missense_W758S exm1273461 17 649037 [A/G] NM_015721 GEMIN4 EXON Missense_P749L exm1273462 17 649065 [T/C] NM_015721 GEMIN4 EXON Missense_V740I exm1273463 17 649067 [A/G] NM_015721 GEMIN4 EXON Missense_I739T exm1273472 17 649164 [A/G] NM_015721 GEMIN4 EXON Missense_R707C exm1273474 17 649232 [T/C] NM_015721 GEMIN4 EXON Missense_R684Q exm1273475 17 649239 [T/C] NM_015721 GEMIN4 EXON Missense_A682T exm1273479 17 649317 [A/C] NM_015721 GEMIN4 EXON Missense_V656F exm1273489 17 649505 [T/A] NM_015721 GEMIN4 EXON Missense_E593V exm1273490 17 649512 [T/C] NM_015721 GEMIN4 EXON Missense_V591M exm1273495 17 649571 [T/C] NM_015721 GEMIN4 EXON Missense_N571S exm1273501 17 649748 [A/G] NM_015721 GEMIN4 EXON Missense_S512F exm1273502 17 649760 [T/C] NM_015721 GEMIN4 EXON Missense_R508Q exm1273503 17 649761 [A/G] NM_015721 GEMIN4 EXON Nonsense_R508X exm1273505 17 649766 [T/C] NM_015721 GEMIN4 EXON Nonsense_W506X exm1273507 17 649779 [T/C] NM_015721 GEMIN4 EXON Missense_I502V exm1273514 17 649947 [T/C] NM_015721 GEMIN4 EXON Missense_A446T exm1273518 17 650015 [T/C] NM_015721 GEMIN4 EXON Missense_Y423C exm1273527 17 650156 [A/G] NM_015721 GEMIN4 EXON Missense_V376A exm1273536 17 650277 [A/G] NM_015721 GEMIN4 EXON Missense_R336C exm1273539 17 650298 [T/C] NM_015721 GEMIN4 EXON Missense_E329K exm1897456 17 650309 [T/C] NM_015721 GEMIN4 EXON Missense_R325Q exm1273544 17 650340 [T/C] NM_015721 GEMIN4 EXON Missense_V315M exm1273545 17 650367 [T/C] NM_015721 GEMIN4 EXON Missense_A306T exm1273547 17 650372 [A/G] NM_015721 GEMIN4 EXON Missense_S304L exm1273557 17 650510 [T/C] NM_015721 GEMIN4 EXON Missense_Q258R exm1273559 17 650529 [T/G] NM_015721 GEMIN4 EXON Missense_L252M exm1273577 17 650796 [T/C] NM_015721 GEMIN4 EXON Missense_V163I exm1273579 17 650814 [T/C] NM_015721 GEMIN4 EXON Missense_V157M exm1273582 17 650826 [T/A] NM_015721 GEMIN4 EXON Missense_S153T exm1273585 17 650855 [T/C] NM_015721 GEMIN4 EXON Missense_R143H exm1273597 17 651144 [T/C] NM_015721 GEMIN4 EXON Missense_V47M exm1273616 17 673155 [T/C] NM_016080 GLOD4 EXON Missense_R262Q exm1273624 17 673330 [T/C] NM_016080 GLOD4 EXON Missense_D233G exm1273628 17 673383 [T/G] NM_016080 GLOD4 EXON Missense_E215D exm1273639 17 674602 [T/C] NM_016080 GLOD4 EXON Missense_E169G exm1273643 17 674696 [C/G] NM_016080 GLOD4 EXON Missense_V138L exm1273654 17 679111 [T/C] NM_016080 GLOD4 EXON Missense_E104K exm1898732 17 685456 [T/C] NM_016080 GLOD4 EXON Missense_G14R exm1273677 17 685640 [T/G] NM_018146 RNMTL1 EXON Missense_A8S exm2227086 17 685671 [T/C] NM_018146 RNMTL1 EXON Missense_V18A exm1273681 17 685752 [A/G] NM_018146 RNMTL1 EXON Missense_G45E exm1273696 17 686437 [C/G] NM_018146 RNMTL1 EXON Missense_M143I exm2253167 17 686497 [T/C] NM_018146 RNMTL1 EXON Synonymous_V163V exm1273700 17 686519 [T/G] NM_018146 RNMTL1 EXON Nonsense_E171X exm1273715 17 694846 [A/G] NM_018146 RNMTL1 EXON Missense_N267S exm1273721 17 694905 [T/G] NM_018146 RNMTL1 EXON Missense_A287S exm1898867 17 694997 [A/C] NM_018146 RNMTL1 EXON Missense_H317Q exm1273727 17 695061 [A/G] NM_018146 RNMTL1 EXON Missense_V339I exm1273730 17 695094 [T/C] NM_018146 RNMTL1 EXON Missense_P350S exm1273735 17 695154 [T/G] NM_018146 RNMTL1 EXON Missense_A370S exm2260700 17 699988 [A/G] exm1273781 17 722697 [A/G] NM_001205319,NM_022463 NXN,NXN EXON Missense_R160W,Missense_R268W exm1273788 17 722765 [T/A] NM_001205319,NM_022463 NXN,NXN EXON Missense_Q137L,Missense_Q245L exm1273789 17 722774 [A/G] NM_001205319,NM_022463 NXN,NXN EXON Missense_S134F,Missense_S242F exm2253317 17 812534 [T/C] NM_022463 NXN Silent exm1273838 17 902063 [A/G] NM_013337 TIMM22 EXON Missense_D95N exm1273840 17 902099 [T/C] NM_013337 TIMM22 EXON Missense_R107C exm1273844 17 902207 [A/G] NM_013337 TIMM22 EXON Missense_I143V exm1273901 17 915979 [A/G] NR_046393,NM_001092,NM_001256847,NM_001159746,NM_021962 ABR,ABR,ABR,ABR,ABR EXON Silent,Missense_P600L,Missense_P88L,Missense_P591L,Missense_P637L exm1273908 17 916367 [A/G] NR_046393,NM_001092,NM_001256847,NM_001159746,NM_021962 ABR,ABR,ABR,ABR,ABR EXON Silent,Missense_T573M,Missense_T61M,Missense_T564M,Missense_T610M exm1273924 17 959286 [T/C] NR_046393,NM_001092,NM_001159746,NM_021962 ABR,ABR,ABR,ABR EXON Silent,Missense_K480R,Missense_K471R,Missense_K517R exm1273976 17 1012214 [A/G] NM_001092,NM_001159746,NM_021962 ABR,ABR,ABR EXON Missense_T32I,Silent,Silent exm1273983 17 1028546 [A/G] NM_001159746,NM_021962 ABR,ABR EXON Missense_P27L,Missense_P73L exm1273989 17 1028580 [T/C] NM_001159746,NM_021962 ABR,ABR EXON Missense_A16T,Missense_A62T exm2252835 17 1028587 [T/C] NM_001159746,NM_021962 ABR,ABR EXON Synonymous_Q13Q,Synonymous_Q59Q exm1273997 17 1028676 [T/C] NM_001159746,NM_021962 ABR,ABR EXON Silent,Missense_D30N exm1875274 17 1183302 [T/C] NM_172367 TUSC5 EXON Missense_H3Y exm1274009 17 1183347 [A/G] NM_172367 TUSC5 EXON Missense_A18T exm1274010 17 1183354 [T/C] NM_172367 TUSC5 EXON Missense_F20S exm1274014 17 1183455 [A/G] NM_172367 TUSC5 EXON Missense_E54K exm1274016 17 1183464 [A/G] NM_172367 TUSC5 EXON Missense_S57G exm1274024 17 1183641 [A/G] NM_172367 TUSC5 EXON Missense_V116I exm1274025 17 1198789 [T/G] NM_172367 TUSC5 EXON Missense_R131L exm1274076 17 1326811 [T/C] NM_005206,NM_016823 CRK,CRK EXON Silent,Missense_S304N exm1274093 17 1340435 [T/C] NM_005206,NM_016823 CRK,CRK EXON Missense_R86G,Missense_R86G exm1274095 17 1359209 [C/G] NM_005206,NM_016823 CRK,CRK EXON Missense_R68P,Missense_R68P exm1274140 17 1371342 [T/C] NM_001080950,NM_033375,NM_001080779 MYO1C,MYO1C,MYO1C EXON Missense_A927T,Missense_A911T,Missense_A946T exm1274146 17 1371393 [T/C] NM_001080950,NM_033375,NM_001080779 MYO1C,MYO1C,MYO1C EXON Missense_D910N,Missense_D894N,Missense_D929N exm1274148 17 1371570 [T/C] NM_001080950,NM_033375,NM_001080779 MYO1C,MYO1C,MYO1C EXON Missense_A894T,Missense_A878T,Missense_A913T exm1274156 17 1372839 [T/C] NM_001080950,NM_033375,NM_001080779 MYO1C,MYO1C,MYO1C EXON Missense_E847K,Missense_E831K,Missense_E866K exm1274165 17 1373558 [A/G] NM_001080950,NM_033375,NM_001080779 MYO1C,MYO1C,MYO1C EXON Missense_R794C,Missense_R778C,Missense_R813C exm1274174 17 1373612 [T/C] NM_001080950,NM_033375,NM_001080779 MYO1C,MYO1C,MYO1C EXON Missense_V776I,Missense_V760I,Missense_V795I exm1274176 17 1373742 [T/G] NM_001080950,NM_033375,NM_001080779 MYO1C,MYO1C,MYO1C EXON Missense_Q766K,Missense_Q750K,Missense_Q785K exm1274182 17 1373922 [A/C] NM_001080950,NM_033375,NM_001080779 MYO1C,MYO1C,MYO1C EXON Missense_K739N,Missense_K723N,Missense_K758N exm1274189 17 1374379 [T/C] NM_001080950,NM_033375,NM_001080779 MYO1C,MYO1C,MYO1C EXON Missense_R714Q,Missense_R698Q,Missense_R733Q exm1274198 17 1374583 [A/G] NM_001080950,NM_033375,NM_001080779 MYO1C,MYO1C,MYO1C EXON Missense_P671L,Missense_P655L,Missense_P690L exm1875617 17 1377938 [T/C] NM_001080950,NM_033375,NM_001080779 MYO1C,MYO1C,MYO1C EXON Missense_R569Q,Missense_R553Q,Missense_R588Q exm1274227 17 1377983 [A/G] NM_001080950,NM_033375,NM_001080779 MYO1C,MYO1C,MYO1C EXON Missense_T554I,Missense_T538I,Missense_T573I exm1274239 17 1378274 [A/G] NM_001080950,NM_033375,NM_001080779 MYO1C,MYO1C,MYO1C EXON Missense_R524C,Missense_R508C,Missense_R543C exm2252855 17 1380825 [A/G] NM_001080950,NM_033375,NM_001080779 MYO1C,MYO1C,MYO1C EXON Synonymous_T497T,Synonymous_T481T,Synonymous_T516T exm1274269 17 1381758 [A/G] NM_001080950,NM_033375,NM_001080779 MYO1C,MYO1C,MYO1C EXON Missense_T395I,Missense_T379I,Missense_T414I exm1274271 17 1381783 [T/C] NM_001080950,NM_033375,NM_001080779 MYO1C,MYO1C,MYO1C EXON Missense_V387M,Missense_V371M,Missense_V406M exm1274274 17 1381917 [A/G] NM_001080950,NM_033375,NM_001080779 MYO1C,MYO1C,MYO1C EXON Missense_A383V,Missense_A367V,Missense_A402V exm1274296 17 1383835 [T/C] NM_001080950,NM_033375,NM_001080779 MYO1C,MYO1C,MYO1C EXON Missense_E279K,Missense_E263K,Missense_E298K exm1274297 17 1383858 [C/G] NM_001080950,NM_033375,NM_001080779 MYO1C,MYO1C,MYO1C EXON Missense_A271G,Missense_A255G,Missense_A290G exm1274298 17 1383868 [T/C] NM_001080950,NM_033375,NM_001080779 MYO1C,MYO1C,MYO1C EXON Missense_V268I,Missense_V252I,Missense_V287I exm1274303 17 1384031 [T/C] NM_001080950,NM_033375,NM_001080779 MYO1C,MYO1C,MYO1C EXON Missense_R240Q,Missense_R224Q,Missense_R259Q exm1274318 17 1385828 [A/G] NM_001080950,NM_033375,NM_001080779 MYO1C,MYO1C,MYO1C EXON Missense_R172W,Missense_R156W,Missense_R191W exm1274324 17 1386183 [T/C] NM_001080950,NM_033375,NM_001080779 MYO1C,MYO1C,MYO1C EXON Missense_R154Q,Missense_R138Q,Missense_R173Q exm1274331 17 1386304 [T/C] NM_001080950,NM_033375,NM_001080779 MYO1C,MYO1C,MYO1C EXON Missense_D114N,Missense_D98N,Missense_D133N exm1274332 17 1386307 [A/G] NM_001080950,NM_033375,NM_001080779 MYO1C,MYO1C,MYO1C EXON Missense_R113W,Missense_R97W,Missense_R132W exm1274341 17 1386932 [T/C] NM_001080950,NM_033375,NM_001080779 MYO1C,MYO1C,MYO1C EXON Missense_V88I,Missense_V72I,Missense_V107I exm2225729 17 1386979 [T/C] NM_001080950,NM_033375,NM_001080779 MYO1C,MYO1C,MYO1C EXON Missense_R72Q,Missense_R56Q,Missense_R91Q exm2252856 17 1387496 [A/G] NM_001080950,NM_033375,NM_001080779 MYO1C,MYO1C,MYO1C EXON Synonymous_S40S,Synonymous_S24S,Synonymous_S59S exm1274392 17 1400040 [T/C] NM_001135642,NM_130766,NM_016532 INPP5K,INPP5K,INPP5K EXON Missense_V265M,Missense_V265M,Missense_V341M exm1274394 17 1400067 [T/C] NM_001135642,NM_130766,NM_016532 INPP5K,INPP5K,INPP5K EXON Missense_V256I,Missense_V256I,Missense_V332I exm1274401 17 1401327 [A/G] NM_001135642,NM_130766,NM_016532 INPP5K,INPP5K,INPP5K EXON Missense_P213L,Missense_P213L,Missense_P289L exm1274404 17 1401343 [T/C] NM_001135642,NM_130766,NM_016532 INPP5K,INPP5K,INPP5K EXON Missense_D208N,Missense_D208N,Missense_D284N exm1274419 17 1410365 [A/G] NM_001135642,NM_130766,NM_016532 INPP5K,INPP5K,INPP5K EXON Missense_H153Y,Missense_H153Y,Missense_H229Y exm1875714 17 1411432 [G/C] NM_001135642,NM_130766,NM_016532 INPP5K,INPP5K,INPP5K EXON Missense_G139R,Missense_G139R,Missense_G215R exm1274424 17 1411462 [T/C] NM_001135642,NM_130766,NM_016532 INPP5K,INPP5K,INPP5K EXON Missense_V129I,Missense_V129I,Missense_V205I exm1274436 17 1412599 [T/C] NM_001135642,NM_130766,NM_016532 INPP5K,INPP5K,INPP5K EXON Missense_V67I,Missense_V67I,Missense_V143I exm1274437 17 1412603 [T/G] NM_001135642,NM_130766,NM_016532 INPP5K,INPP5K,INPP5K EXON Nonsense_Y65X,Nonsense_Y65X,Nonsense_Y141X exm2225735 17 1417199 [T/C] NM_001135642,NM_130766,NM_016532 INPP5K,INPP5K,INPP5K EXON Silent,Silent,Missense_N40S exm1274448 17 1417219 [A/C] NM_001135642,NM_130766,NM_016532 INPP5K,INPP5K,INPP5K EXON Silent,Silent,Missense_S33R exm1274464 17 1437427 [T/C] NM_006224 PITPNA EXON Missense_R245K exm1274481 17 1451591 [A/G] NM_006224 PITPNA EXON Synonymous_T96T exm1274482 17 1451661 [T/C] NM_006224 PITPNA EXON Missense_R73Q exm2252859 17 1456318 [A/G] NM_006224 PITPNA EXON Synonymous_H59H exm2272477 17 1461179 [T/C] NM_006224 PITPNA Silent exm1274501 17 1478989 [T/C] NM_152346 SLC43A2 EXON Missense_R540H exm1875820 17 1481586 [T/C] NM_152346 SLC43A2 EXON Missense_R461Q exm1274529 17 1489226 [T/C] NM_152346 SLC43A2 EXON Missense_E400K exm1274545 17 1494239 [A/G] NM_152346 SLC43A2 EXON Missense_A312V exm1274547 17 1494568 [A/G] NM_152346 SLC43A2 EXON Missense_A309V exm1274549 17 1494634 [A/G] NM_152346 SLC43A2 EXON Missense_A287V exm1875875 17 1518274 [A/G] NM_152346 SLC43A2 EXON Synonymous_N141N exm1274583 17 1520016 [T/C] NM_152346 SLC43A2 EXON Missense_E70K exm1274586 17 1520064 [C/G] NM_152346 SLC43A2 Silent exm1274593 17 1538083 [A/G] NM_003693,NM_145350,NR_028075,NR_028076,NM_145352 SCARF1,SCARF1,SCARF1,SCARF1,SCARF1 EXON Missense_V821A,Silent,Silent,Silent,Missense_V735A exm1274594 17 1538110 [T/C] NM_003693,NM_145350,NR_028075,NR_028076,NM_145352 SCARF1,SCARF1,SCARF1,SCARF1,SCARF1 EXON Missense_R812K,Silent,Silent,Silent,Missense_R726K exm2225741 17 1538172 [A/C] NM_003693,NM_145350,NR_028075,NR_028076,NM_145352 SCARF1,SCARF1,SCARF1,SCARF1,SCARF1 EXON Missense_Q791H,Silent,Silent,Silent,Missense_Q705H exm1274601 17 1538212 [T/C] NM_003693,NM_145350,NR_028075,NR_028076,NM_145352 SCARF1,SCARF1,SCARF1,SCARF1,SCARF1 EXON Missense_R778Q,Silent,Silent,Silent,Missense_R692Q exm1875926 17 1538270 [T/C] NM_003693,NM_145350,NR_028075,NR_028076,NM_145352 SCARF1,SCARF1,SCARF1,SCARF1,SCARF1 EXON Missense_K759E,Silent,Silent,Silent,Missense_K673E exm1274606 17 1538302 [A/C] NM_003693,NM_145350,NR_028075,NR_028076,NM_145352 SCARF1,SCARF1,SCARF1,SCARF1,SCARF1 EXON Missense_G748V,Silent,Silent,Silent,Missense_G662V exm1274608 17 1538332 [T/C] NM_003693,NM_145350,NR_028075,NR_028076,NM_145352 SCARF1,SCARF1,SCARF1,SCARF1,SCARF1 EXON Missense_R738Q,Silent,Silent,Silent,Missense_R652Q exm1274615 17 1538499 [A/C] NM_003693,NM_145350,NR_028075,NR_028076,NM_145352 SCARF1,SCARF1,SCARF1,SCARF1,SCARF1 EXON Missense_Q682H,Silent,Silent,Silent,Missense_Q596H exm1274617 17 1538546 [T/C] NM_003693,NM_145350,NR_028075,NR_028076,NM_145352 SCARF1,SCARF1,SCARF1,SCARF1,SCARF1 EXON Missense_G667S,Silent,Silent,Silent,Missense_G581S exm1274618 17 1538561 [A/G] NM_003693,NM_145350,NR_028075,NR_028076,NM_145352 SCARF1,SCARF1,SCARF1,SCARF1,SCARF1 EXON Missense_R662W,Silent,Silent,Silent,Missense_R576W exm1274621 17 1538628 [G/C] NM_003693,NM_145350,NR_028075,NR_028076,NM_145352 SCARF1,SCARF1,SCARF1,SCARF1,SCARF1 EXON Missense_E639D,Silent,Silent,Silent,Missense_E553D exm1274625 17 1538669 [T/C] NM_003693,NM_145350,NR_028075,NR_028076,NM_145352 SCARF1,SCARF1,SCARF1,SCARF1,SCARF1 EXON Missense_G626S,Silent,Silent,Silent,Missense_G540S exm1274629 17 1538692 [T/C] NM_003693,NM_145350,NR_028075,NR_028076,NM_145352 SCARF1,SCARF1,SCARF1,SCARF1,SCARF1 EXON Missense_R618K,Silent,Silent,Silent,Missense_R532K exm1274634 17 1538749 [A/G] NM_003693,NM_145350,NR_028075,NR_028076,NM_145352 SCARF1,SCARF1,SCARF1,SCARF1,SCARF1 EXON Missense_A599V,Silent,Silent,Silent,Missense_A513V exm1274640 17 1538851 [A/G] NM_003693,NM_145350,NR_028075,NR_028076,NM_145352 SCARF1,SCARF1,SCARF1,SCARF1,SCARF1 EXON Missense_P565L,Missense_R553C,Silent,Silent,Missense_P479L exm1274645 17 1540039 [T/C] NM_003693,NM_145350,NR_028075,NR_028076,NM_145352 SCARF1,SCARF1,SCARF1,SCARF1,SCARF1 EXON Missense_D533N,Synonymous_Q520Q,Silent,Silent,Missense_D447N exm1274647 17 1540091 [A/G] NM_003693,NM_145350,NR_028075,NR_028076,NM_145352 SCARF1,SCARF1,SCARF1,SCARF1,SCARF1 EXON Synonymous_A515A,Missense_P503L,Silent,Silent,Synonymous_A429A exm1274648 17 1540106 [A/G] NM_003693,NM_145350,NR_028075,NR_028076,NM_145352 SCARF1,SCARF1,SCARF1,SCARF1,SCARF1 EXON Synonymous_I510I,Missense_S498L,Silent,Silent,Synonymous_I424I exm1274652 17 1540235 [T/C] NM_003693,NM_145350,NR_028075,NR_028076,NM_145352 SCARF1,SCARF1,SCARF1,SCARF1,SCARF1 EXON Missense_V496I,Missense_A496T,Silent,Silent,Missense_V410I exm1274664 17 1542190 [A/G] NM_003693,NM_145350,NR_028075,NR_028076,NM_145352 SCARF1,SCARF1,SCARF1,SCARF1,SCARF1 EXON Missense_A425V,Missense_A425V,Silent,Silent,Missense_A339V exm1875962 17 1543227 [G/C] NM_003693,NM_145350,NR_028075,NR_028076,NM_145352 SCARF1,SCARF1,SCARF1,SCARF1,SCARF1 EXON Missense_S373T,Missense_S373T,Silent,Silent,Silent exm1875963 17 1543245 [A/G] NM_003693,NM_145350,NR_028075,NR_028076,NM_145352 SCARF1,SCARF1,SCARF1,SCARF1,SCARF1 EXON Missense_T367I,Missense_T367I,Silent,Silent,Silent exm1274677 17 1543805 [T/C] NM_003693,NM_145350,NR_028075,NR_028076,NM_145352 SCARF1,SCARF1,SCARF1,SCARF1,SCARF1 EXON Missense_G316E,Missense_G316E,Silent,Silent,Missense_G316E exm1274678 17 1543833 [T/C] NM_003693,NM_145350,NR_028075,NR_028076,NM_145352 SCARF1,SCARF1,SCARF1,SCARF1,SCARF1 EXON Missense_E307K,Missense_E307K,Silent,Silent,Missense_E307K exm1274680 17 1543842 [T/C] NM_003693,NM_145350,NR_028075,NR_028076,NM_145352 SCARF1,SCARF1,SCARF1,SCARF1,SCARF1 EXON Missense_E304K,Missense_E304K,Silent,Silent,Missense_E304K exm1274683 17 1543934 [A/G] NM_003693,NM_145350,NR_028075,NR_028076,NM_145352 SCARF1,SCARF1,SCARF1,SCARF1,SCARF1 EXON Missense_P273L,Missense_P273L,Silent,Silent,Missense_P273L exm1274699 17 1548166 [T/C] NM_003693,NM_145350,NR_028075,NR_028076,NM_145352 SCARF1,SCARF1,SCARF1,SCARF1,SCARF1 EXON Missense_R76Q,Missense_R76Q,Silent,Silent,Missense_R76Q exm1274709 17 1548969 [A/G] NM_003693,NM_145350,NR_028075,NR_028076,NM_145352 SCARF1,SCARF1,SCARF1,SCARF1,SCARF1 EXON Missense_P8L,Missense_P8L,Silent,Silent,Missense_P8L exm1274722 17 1549888 [T/C] NM_031430 RILP EXON Missense_A352T exm1274723 17 1549896 [T/C] NM_031430 RILP EXON Missense_R349Q exm2272568 17 1550106 [T/C] NM_031430 RILP Silent exm1274725 17 1550225 [A/G] NM_031430 RILP EXON Missense_P335S exm1274735 17 1551190 [A/G] NM_031430 RILP EXON Missense_R295W exm1274737 17 1551223 [T/C] NM_031430 RILP EXON Missense_G284S exm1274739 17 1551231 [T/C] NM_031430 RILP EXON Missense_R281Q exm1876029 17 1551656 [A/G] NM_031430 RILP EXON Missense_A270V exm1274742 17 1551731 [A/C] NM_031430 RILP EXON Missense_R245L exm1274743 17 1551732 [A/G] NM_031430 RILP EXON Missense_R245W exm1274747 17 1551768 [A/C] NM_031430 RILP EXON Missense_G233W exm1274771 17 1553040 [T/C] NM_031430 RILP EXON Missense_G20E exm1274817 17 1560055 [A/G] NM_006445 PRPF8 EXON Synonymous_L1836L exm1274826 17 1562032 [T/C] NM_006445 PRPF8 EXON Missense_S1722G exm2252866 17 1579300 [A/G] NM_006445 PRPF8 EXON Synonymous_I867I exm1274942 17 1580974 [G/C] NM_006445 PRPF8 EXON Missense_K623N exm1274975 17 1583077 [A/G] NM_006445 PRPF8 EXON Missense_P372L exm1876267 17 1586965 [A/C] NM_006445 PRPF8 EXON Missense_R44L exm1275054 17 1611290 [T/C] NM_001164407 TLCD2 EXON Missense_R190Q exm1275055 17 1611317 [A/G] NM_001164407 TLCD2 EXON Missense_L181P exm1275057 17 1611329 [T/C] NM_001164407 TLCD2 EXON Missense_R177H exm1275091 17 1629080 [A/G] NM_001163673,NM_152348,NM_001163811,NM_001163809 WDR81,WDR81,WDR81,WDR81 EXON Silent,Silent,Silent,Missense_R276H exm2225782 17 1629856 [T/C] NM_001163673,NM_152348,NM_001163811,NM_001163809 WDR81,WDR81,WDR81,WDR81 EXON Silent,Silent,Silent,Missense_R535C exm1275111 17 1630130 [T/C] NM_001163673,NM_152348,NM_001163811,NM_001163809 WDR81,WDR81,WDR81,WDR81 EXON Silent,Silent,Silent,Missense_P626L exm1275114 17 1630208 [T/C] NM_001163673,NM_152348,NM_001163811,NM_001163809 WDR81,WDR81,WDR81,WDR81 EXON Silent,Silent,Silent,Missense_P652L exm1275123 17 1630507 [T/C] NM_001163673,NM_152348,NM_001163811,NM_001163809 WDR81,WDR81,WDR81,WDR81 EXON Silent,Silent,Silent,Missense_P752S exm2225783 17 1630519 [T/C] NM_001163673,NM_152348,NM_001163811,NM_001163809 WDR81,WDR81,WDR81,WDR81 EXON Silent,Silent,Silent,Missense_R756W exm1275142 17 1631365 [A/G] NM_001163673,NM_152348,NM_001163811,NM_001163809 WDR81,WDR81,WDR81,WDR81 EXON Silent,Silent,Silent,Missense_G1038R exm1275156 17 1631647 [A/G] NM_001163673,NM_152348,NM_001163811,NM_001163809 WDR81,WDR81,WDR81,WDR81 EXON Silent,Missense_V81M,Silent,Missense_V1132M exm1275162 17 1631785 [A/G] NM_001163673,NM_152348,NM_001163811,NM_001163809 WDR81,WDR81,WDR81,WDR81 EXON Silent,Missense_A127T,Silent,Missense_A1178T exm1275167 17 1633694 [T/C] NM_001163673,NM_152348,NM_001163811,NM_001163809 WDR81,WDR81,WDR81,WDR81 EXON Missense_R27C,Missense_R179C,Missense_R3C,Missense_R1230C exm1275175 17 1634096 [A/C] NM_001163673,NM_152348,NM_001163811,NM_001163809 WDR81,WDR81,WDR81,WDR81 EXON Missense_L72M,Missense_L224M,Missense_L48M,Missense_L1275M exm-rs12150338 17 1634104 [T/C] NM_001163673,NM_152348,NM_001163811,NM_001163809 WDR81,WDR81,WDR81,WDR81 EXON Synonymous_A74A,Synonymous_A226A,Synonymous_A50A,Synonymous_A1277A exm1876499 17 1634105 [A/G] NM_001163673,NM_152348,NM_001163811,NM_001163809 WDR81,WDR81,WDR81,WDR81 EXON Missense_G75S,Missense_G227S,Missense_G51S,Missense_G1278S exm1275179 17 1634127 [T/C] NM_001163673,NM_152348,NM_001163811,NM_001163809 WDR81,WDR81,WDR81,WDR81 EXON Missense_P82L,Missense_P234L,Missense_P58L,Missense_P1285L exm1275189 17 1634184 [A/G] NM_001163673,NM_152348,NM_001163811,NM_001163809 WDR81,WDR81,WDR81,WDR81 EXON Missense_R101H,Missense_R253H,Missense_R77H,Missense_R1304H exm1275192 17 1634392 [T/C] NM_001163673,NM_152348,NM_001163811,NM_001163809 WDR81,WDR81,WDR81,WDR81 EXON Nonsense_R130X,Nonsense_R282X,Nonsense_R106X,Nonsense_R1333X exm2252869 17 1634475 [A/G] NM_001163673,NM_152348,NM_001163811,NM_001163809 WDR81,WDR81,WDR81,WDR81 EXON Synonymous_T157T,Synonymous_T309T,Synonymous_T133T,Synonymous_T1360T exm1275206 17 1635669 [A/G] NM_001163673,NM_152348,NM_001163811,NM_001163809 WDR81,WDR81,WDR81,WDR81 EXON Missense_S200N,Missense_S352N,Missense_S176N,Missense_S1403N exm1275207 17 1635686 [T/G] NM_001163673,NM_152348,NM_001163811,NM_001163809 WDR81,WDR81,WDR81,WDR81 EXON Missense_C206G,Missense_C358G,Missense_C182G,Missense_C1409G exm1275211 17 1635776 [T/C] NM_001163673,NM_152348,NM_001163811,NM_001163809 WDR81,WDR81,WDR81,WDR81 EXON Missense_R236W,Missense_R388W,Missense_R212W,Missense_R1439W exm1275220 17 1636117 [A/G] NM_001163673,NM_152348,NM_001163811,NM_001163809 WDR81,WDR81,WDR81,WDR81 EXON Missense_C291Y,Missense_C443Y,Missense_C267Y,Missense_C1494Y exm1275222 17 1636833 [A/G] NM_001163673,NM_152348,NM_001163811,NM_001163809 WDR81,WDR81,WDR81,WDR81 EXON Missense_R298Q,Missense_R450Q,Missense_R274Q,Missense_R1501Q exm1275230 17 1636922 [A/G] NM_001163673,NM_152348,NM_001163811,NM_001163809 WDR81,WDR81,WDR81,WDR81 EXON Missense_V328M,Missense_V480M,Missense_V304M,Missense_V1531M exm1275233 17 1636934 [A/G] NM_001163673,NM_152348,NM_001163811,NM_001163809 WDR81,WDR81,WDR81,WDR81 EXON Missense_M332V,Missense_M484V,Missense_M308V,Missense_M1535V exm1275236 17 1636950 [A/C] NM_001163673,NM_152348,NM_001163811,NM_001163809 WDR81,WDR81,WDR81,WDR81 EXON Missense_P337H,Missense_P489H,Missense_P313H,Missense_P1540H exm1275241 17 1637088 [T/C] NM_001163673,NM_152348,NM_001163811,NM_001163809 WDR81,WDR81,WDR81,WDR81 EXON Missense_S383L,Missense_S535L,Missense_S359L,Missense_S1586L exm2252870 17 1637164 [T/C] NM_001163673,NM_152348,NM_001163811,NM_001163809 WDR81,WDR81,WDR81,WDR81 EXON Synonymous_H408H,Synonymous_H560H,Synonymous_H384H,Synonymous_H1611H exm2225787 17 1637202 [A/C] NM_001163673,NM_152348,NM_001163811,NM_001163809 WDR81,WDR81,WDR81,WDR81 EXON Missense_E421A,Missense_E573A,Missense_E397A,Missense_E1624A exm1275282 17 1637492 [A/G] NM_001163673,NM_152348,NM_001163811,NM_001163809 WDR81,WDR81,WDR81,WDR81 EXON Missense_V518I,Missense_V670I,Missense_V494I,Missense_V1721I exm1275283 17 1638878 [A/G] NM_001163673,NM_152348,NM_001163811,NM_001163809 WDR81,WDR81,WDR81,WDR81 EXON Missense_R528H,Missense_R680H,Missense_R504H,Missense_R1731H exm1275288 17 1638973 [A/G] NM_001163673,NM_152348,NM_001163811,NM_001163809 WDR81,WDR81,WDR81,WDR81 EXON Missense_T560A,Missense_T712A,Missense_T536A,Missense_T1763A exm1275290 17 1639000 [T/C] NM_001163673,NM_152348,NM_001163811,NM_001163809 WDR81,WDR81,WDR81,WDR81 EXON Missense_P569S,Missense_P721S,Missense_P545S,Missense_P1772S exm1275311 17 1640717 [A/G] NM_001163673,NM_152348,NM_001163811,NM_001163809 WDR81,WDR81,WDR81,WDR81 EXON Missense_K652R,Missense_K804R,Missense_K628R,Missense_K1855R exm1275312 17 1640735 [T/C] NM_001163673,NM_152348,NM_001163811,NM_001163809 WDR81,WDR81,WDR81,WDR81 EXON Missense_P658L,Missense_P810L,Missense_P634L,Missense_P1861L exm1275319 17 1640812 [A/G] NM_001163673,NM_152348,NM_001163811,NM_001163809 WDR81,WDR81,WDR81,WDR81 EXON Missense_V684M,Missense_V836M,Missense_V660M,Missense_V1887M exm1275321 17 1640830 [A/G] NM_001163673,NM_152348,NM_001163811,NM_001163809 WDR81,WDR81,WDR81,WDR81 EXON Missense_V690I,Missense_V842I,Missense_V666I,Missense_V1893I exm1275331 17 1648294 [T/C] NM_000934,NM_001165921,NM_001165920 SERPINF2,SERPINF2,SERPINF2 EXON Missense_A2V,Missense_A2V,Missense_A2V exm1275338 17 1648502 [T/C] NM_000934,NM_001165921,NM_001165920 SERPINF2,SERPINF2,SERPINF2 EXON Missense_R33W,Missense_R33W,Missense_R33W exm1275342 17 1648636 [A/G] NM_000934,NM_001165921,NM_001165920 SERPINF2,SERPINF2,SERPINF2 EXON Missense_G38R,Missense_G38R,Missense_G38R exm1275351 17 1649060 [T/C] NM_000934,NM_001165921,NM_001165920 SERPINF2,SERPINF2,SERPINF2 EXON Missense_T75I,Silent,Missense_T75I exm1275355 17 1649107 [A/G] NM_000934,NM_001165921,NM_001165920 SERPINF2,SERPINF2,SERPINF2 EXON Missense_A91T,Silent,Missense_A91T exm1275357 17 1649197 [A/G] NM_000934,NM_001165921,NM_001165920 SERPINF2,SERPINF2,SERPINF2 EXON Missense_A121T,Silent,Missense_A121T exm1275361 17 1650383 [A/T] NM_000934,NM_001165921,NM_001165920 SERPINF2,SERPINF2,SERPINF2 EXON Missense_H146Q,Missense_H82Q,Missense_H146Q exm1275362 17 1650418 [A/G] NM_000934,NM_001165921,NM_001165920 SERPINF2,SERPINF2,SERPINF2 EXON Missense_G158D,Missense_G94D,Missense_G158D exm1275375 17 1651901 [A/G] NM_000934,NM_001165921,NM_001165920 SERPINF2,SERPINF2,SERPINF2 EXON Missense_R242K,Missense_R178K,Missense_R242K exm1275382 17 1652028 [T/G] NM_000934,NM_001165921,NM_001165920 SERPINF2,SERPINF2,SERPINF2 EXON Missense_E284D,Missense_E220D,Missense_E284D exm1275397 17 1657653 [A/G] NM_000934,NM_001165921,NM_001165920 SERPINF2,SERPINF2,SERPINF2 EXON Missense_R434K,Missense_R370K,Missense_R434K exm1275404 17 1657720 [C/G] NM_000934,NM_001165921,NM_001165920 SERPINF2,SERPINF2,SERPINF2 EXON Missense_F456L,Missense_F392L,Missense_F456L exm1275427 17 1673212 [A/G] NM_002615 SERPINF1 EXON Missense_V51M exm1275430 17 1673228 [C/G] NM_002615 SERPINF1 EXON Missense_A56G exm1275436 17 1673276 [T/C] NM_002615 SERPINF1 EXON Missense_T72M exm1275454 17 1674434 [G/C] NM_002615 SERPINF1 EXON Missense_P132R exm1275457 17 1674477 [A/G] NM_002615 SERPINF1 EXON Synonymous_K146K exm1275460 17 1675167 [C/G] NM_002615 SERPINF1 EXON Missense_K147N exm1275462 17 1675174 [A/G] NM_002615 SERPINF1 EXON Missense_I150V exm1275465 17 1675252 [A/G] NM_002615 SERPINF1 EXON Missense_D176N exm1275472 17 1675332 [T/G] NM_002615 SERPINF1 EXON Missense_E202D exm1275479 17 1678353 [G/C] NM_002615 SERPINF1 EXON Synonymous_G215G exm1275492 17 1679941 [T/C] NM_002615 SERPINF1 EXON Missense_I301T exm1275493 17 1679952 [C/G] NM_002615 SERPINF1 EXON Missense_L305V exm1275501 17 1680487 [A/G] NM_002615 SERPINF1 EXON Missense_Q335R exm1275510 17 1680559 [A/G] NM_002615 SERPINF1 EXON Missense_R359Q exm1275511 17 1680562 [T/C] NM_002615 SERPINF1 EXON Missense_A360V exm1275524 17 1684605 [T/G] NM_052928 SMYD4 EXON Missense_P797H exm1275535 17 1686386 [A/G] NM_052928 SMYD4 EXON Missense_P735L exm1275538 17 1686410 [T/C] NM_052928 SMYD4 EXON Missense_Y727C exm1275548 17 1686750 [A/C] NM_052928 SMYD4 EXON Missense_S681A exm1275553 17 1686768 [A/G] NM_052928 SMYD4 EXON Nonsense_R675X exm1275556 17 1687682 [T/C] NM_052928 SMYD4 EXON Missense_R653Q exm1275559 17 1687707 [T/C] NM_052928 SMYD4 EXON Missense_V645I exm1275561 17 1687739 [T/C] NM_052928 SMYD4 EXON Missense_R634H exm1275566 17 1690118 [T/C] NM_052928 SMYD4 EXON Missense_G624R exm2225799 17 1690196 [T/C] NM_052928 SMYD4 EXON Missense_A598T exm1275576 17 1690752 [A/G] NM_052928 SMYD4 EXON Missense_R562W exm1275585 17 1690895 [A/G] NM_052928 SMYD4 EXON Missense_P514L exm-rs5005394 17 1700082 [T/C] NM_052928 SMYD4 Silent exm1275586 17 1703153 [A/G] NM_052928 SMYD4 EXON Missense_T512I exm1275587 17 1703156 [T/C] NM_052928 SMYD4 EXON Missense_H511R exm1275592 17 1703216 [A/G] NM_052928 SMYD4 EXON Missense_A491V exm1275602 17 1703463 [A/T] NM_052928 SMYD4 EXON Missense_I409F exm1275605 17 1703543 [C/G] NM_052928 SMYD4 EXON Missense_P382R exm1275610 17 1703608 [A/C] NM_052928 SMYD4 EXON Missense_F360L exm1275618 17 1703804 [T/C] NM_052928 SMYD4 EXON Missense_Y295C exm1275626 17 1703982 [T/C] NM_052928 SMYD4 EXON Missense_G236S exm1275630 17 1704089 [T/C] NM_052928 SMYD4 EXON Missense_E200G exm1275632 17 1704146 [A/T] NM_052928 SMYD4 EXON Missense_D181V exm1275634 17 1704162 [T/C] NM_052928 SMYD4 EXON Missense_T176A exm1275640 17 1704246 [A/G] NM_052928 SMYD4 EXON Missense_R148C exm1275643 17 1704296 [A/C] NM_052928 SMYD4 EXON Missense_R131I exm1275649 17 1707988 [T/C] NM_052928 SMYD4 EXON Missense_N101D exm1275652 17 1715281 [A/G] NM_052928 SMYD4 EXON Missense_A88V exm1275659 17 1715350 [A/G] NM_052928 SMYD4 EXON Missense_S65L exm1876937 17 1731204 [T/C] NM_052928 SMYD4 EXON Missense_T29A exm1275663 17 1731221 [A/G] NM_052928 SMYD4 EXON Missense_V23A exm1275665 17 1731230 [A/G] NM_052928 SMYD4 EXON Missense_P20L exm1877130 17 1782605 [A/G] NM_002945 RPA1 EXON Missense_V286I exm1275720 17 1782952 [A/G] NM_002945 RPA1 EXON Missense_T351A exm1275726 17 1783909 [T/C] NM_002945 RPA1 EXON Missense_R389W exm1275734 17 1787173 [A/G] NM_002945 RPA1 EXON Missense_G437R exm1275740 17 1791991 [G/C] NM_002945 RPA1 EXON Missense_A466G exm2252874 17 1792109 [T/C] NM_002945 RPA1 EXON Synonymous_T505T exm1275748 17 1792132 [A/G] NM_002945 RPA1 EXON Missense_R513H exm1275750 17 1795142 [T/A] NM_002945 RPA1 EXON Missense_F523I exm1275752 17 1795205 [A/G] NM_002945 RPA1 EXON Missense_A544T exm1275755 17 1798312 [A/G] NM_002945 RPA1 EXON Missense_A557T exm2252875 17 1801189 [T/C] NM_002945 RPA1 EXON Silent exm1275776 17 1840079 [T/C] NM_178568 RTN4RL1 EXON Missense_R346Q exm1275781 17 1840143 [T/C] NM_178568 RTN4RL1 EXON Missense_A325T exm1275784 17 1840193 [A/G] NM_178568 RTN4RL1 EXON Missense_A308V exm1275794 17 1840328 [A/G] NM_178568 RTN4RL1 EXON Missense_A263V exm1275797 17 1840388 [A/G] NM_178568 RTN4RL1 EXON Missense_P243L exm1275799 17 1840454 [A/C] NM_178568 RTN4RL1 EXON Missense_R221L exm1877795 17 1840547 [A/G] NM_178568 RTN4RL1 EXON Missense_P190L exm1275808 17 1840677 [T/C] NM_178568 RTN4RL1 EXON Missense_G147S exm1275809 17 1840679 [T/C] NM_178568 RTN4RL1 EXON Missense_G146D exm1275810 17 1840680 [T/C] NM_178568 RTN4RL1 EXON Missense_G146S exm1275822 17 1840917 [T/C] NM_178568 RTN4RL1 EXON Missense_G67S exm1275840 17 1936877 [A/G] NM_001383 DPH1 EXON Missense_R52Q exm1275854 17 1939344 [T/C] NM_001383 DPH1 EXON Missense_L125P exm1275860 17 1939852 [T/C] NM_001383 DPH1 EXON Missense_R149W exm1275861 17 1939892 [T/C] NM_001383 DPH1 EXON Missense_T162I exm1275875 17 1940223 [A/G] NM_001383 DPH1 EXON Missense_R223Q exm1275878 17 1940246 [A/G] NM_001383 DPH1 EXON Missense_V231I exm1275880 17 1943099 [G/C] NM_001383 DPH1 EXON Missense_P249R exm1275882 17 1943104 [A/G] NM_001383 DPH1 EXON Missense_V251I exm1275887 17 1943525 [A/G] NM_001383 DPH1 EXON Missense_S260G exm1275890 17 1943597 [A/G] NM_001383 DPH1 EXON Missense_A284T exm1275893 17 1943643 [A/G] NM_001383 DPH1 EXON Missense_R299H exm1275897 17 1943838 [T/G] NM_001383 DPH1 EXON Missense_V321L exm1878203 17 1944781 [G/C] NM_001383 DPH1 EXON Missense_V370L exm1275910 17 1944871 [T/C] NM_001383 DPH1 EXON Nonsense_Q400X exm1275940 17 1945995 [A/G] NM_001383,NM_080822 DPH1,OVCA2 EXON Silent,Missense_G94D exm1275941 17 1945998 [T/A] NM_001383,NM_080822 DPH1,OVCA2 EXON Silent,Missense_L95Q exm1275943 17 1946057 [T/C] NM_001383,NM_080822 DPH1,OVCA2 EXON Silent,Missense_L115F exm1275991 17 1960094 [T/C] NM_006497,NM_001098202 HIC1,HIC1 EXON Missense_A37V,Missense_A56V exm1878310 17 1961223 [T/C] NM_006497,NM_001098202 HIC1,HIC1 EXON Synonymous_F413F,Synonymous_F432F exm2252885 17 1961223 [T/C] NM_006497,NM_001098202 HIC1,HIC1 EXON Synonymous_F413F,Synonymous_F432F exm1276027 17 1961353 [A/G] NM_006497,NM_001098202 HIC1,HIC1 EXON Missense_A457T,Missense_A476T exm2252886 17 1961535 [A/G] NM_006497,NM_001098202 HIC1,HIC1 EXON Synonymous_P517P,Synonymous_P536P exm1276042 17 1961863 [T/C] NM_006497,NM_001098202 HIC1,HIC1 EXON Missense_P627S,Missense_P646S exm1276043 17 1961888 [C/G] NM_006497,NM_001098202 HIC1,HIC1 EXON Missense_R635P,Missense_R654P exm1276056 17 1968369 [T/C] NM_001256827,NM_017575,NR_046385,NM_001256828 SMG6,SMG6,SMG6,SMG6 EXON Missense_K468R,Missense_K1376R,Silent,Missense_K468R exm1276057 17 1968376 [T/C] NM_001256827,NM_017575,NR_046385,NM_001256828 SMG6,SMG6,SMG6,SMG6 EXON Missense_A466T,Missense_A1374T,Silent,Missense_A466T exm1276067 17 1968875 [T/C] NM_001256827,NM_017575,NR_046385,NM_001256828 SMG6,SMG6,SMG6,SMG6 EXON Missense_E404K,Missense_E1312K,Silent,Missense_E404K exm1276071 17 1968928 [T/C] NM_001256827,NM_017575,NR_046385,NM_001256828 SMG6,SMG6,SMG6,SMG6 EXON Missense_H386R,Missense_H1294R,Silent,Missense_H386R exm1276072 17 1968967 [T/C] NM_001256827,NM_017575,NR_046385,NM_001256828 SMG6,SMG6,SMG6,SMG6 EXON Missense_N373S,Missense_N1281S,Silent,Missense_N373S exm1276077 17 1972116 [T/C] NM_001256827,NM_017575,NR_046385,NM_001256828 SMG6,SMG6,SMG6,SMG6 EXON Missense_R356Q,Missense_R1264Q,Silent,Missense_R356Q exm1276082 17 1972183 [T/C] NM_001256827,NM_017575,NR_046385,NM_001256828 SMG6,SMG6,SMG6,SMG6 EXON Missense_E334K,Missense_E1242K,Silent,Missense_E334K exm1276083 17 1972209 [T/C] NM_001256827,NM_017575,NR_046385,NM_001256828 SMG6,SMG6,SMG6,SMG6 EXON Missense_H325R,Missense_H1233R,Silent,Missense_H325R exm1276096 17 1985210 [T/G] NM_001256827,NM_017575,NR_046385,NM_001256828 SMG6,SMG6,SMG6,SMG6 EXON Missense_E284A,Missense_E1192A,Silent,Missense_E284A exm1878494 17 1989027 [C/G] NM_001256827,NM_017575,NR_046385,NM_001256828 SMG6,SMG6,SMG6,SMG6 EXON Missense_E268Q,Missense_E1176Q,Silent,Missense_E268Q exm1276124 17 2091695 [T/C] NM_001256827,NM_017575,NM_001256828 SMG6,SMG6,SMG6 EXON Missense_K87R,Missense_K995R,Missense_K87R exm1276125 17 2091729 [A/G] NM_001256827,NM_017575,NM_001256828 SMG6,SMG6,SMG6 EXON Missense_R76C,Missense_R984C,Missense_R76C exm1276126 17 2091765 [T/C] NM_001256827,NM_017575,NM_001256828 SMG6,SMG6,SMG6 EXON Missense_A64T,Missense_A972T,Missense_A64T exm1276128 17 2091789 [A/G] NM_001256827,NM_017575,NM_001256828 SMG6,SMG6,SMG6 EXON Missense_R56C,Missense_R964C,Missense_R56C exm-rs2281727 17 2117945 [A/G] NM_001256827,NM_017575,NM_001256828 SMG6,SMG6,SMG6 Silent,Silent,Silent exm-rs1231206 17 2125605 [A/G] NM_001256827,NM_017575,NM_001256828 SMG6,SMG6,SMG6 Silent,Silent,Silent exm-rs216172 17 2126504 [C/G] NM_001256827,NM_017575,NM_001256828 SMG6,SMG6,SMG6 Silent,Silent,Silent exm-rs10852932 17 2143460 [T/G] NM_001256827,NM_017575 SMG6,SMG6 Silent,Silent exm1276143 17 2186030 [T/G] NM_017575 SMG6 EXON Missense_H858N exm1276155 17 2196218 [A/C] NM_017575 SMG6 EXON Missense_I735M exm1276162 17 2200627 [A/C] NM_017575 SMG6 EXON Missense_S687R exm1276169 17 2201323 [T/C] NM_017575 SMG6 EXON Missense_R625H exm1276175 17 2202323 [T/C] NM_017575 SMG6 EXON Missense_N575S exm1276180 17 2202438 [A/C] NM_017575 SMG6 EXON Missense_G537C exm1276187 17 2202479 [A/G] NM_017575 SMG6 EXON Missense_T523M exm1276188 17 2202480 [T/C] NM_017575 SMG6 EXON Missense_T523A exm1276200 17 2202749 [T/C] NM_017575 SMG6 EXON Missense_R433Q exm1276207 17 2202836 [T/C] NM_017575 SMG6 EXON Missense_R404H exm1276213 17 2202911 [T/C] NM_017575 SMG6 EXON Missense_D379G exm1276218 17 2202972 [T/C] NM_017575 SMG6 EXON Missense_M359V exm1276225 17 2203025 [T/G] NM_017575 SMG6 EXON Missense_N341T exm1276229 17 2203109 [T/C] NM_017575 SMG6 EXON Missense_D313G exm1276230 17 2203167 [T/G] NM_017575 SMG6 EXON Missense_K294Q exm1276236 17 2203211 [T/C] NM_017575 SMG6 EXON Missense_R279H exm1276238 17 2203214 [A/C] NM_017575 SMG6 EXON Missense_C278F exm1276239 17 2203221 [T/C] NM_017575 SMG6 EXON Missense_N276D exm1276268 17 2203527 [T/G] NM_017575 SMG6 EXON Missense_Q174K exm1276269 17 2203563 [A/G] NM_017575 SMG6 EXON Missense_R162W exm1276283 17 2203772 [T/A] NM_017575 SMG6 EXON Missense_Q92L exm1276284 17 2203775 [A/G] NM_017575 SMG6 EXON Missense_T91I exm2274883 17 2203845 [A/G] NM_017575 SMG6 EXON Missense_P68S exm1276289 17 2203894 [C/G] NM_017575 SMG6 EXON Missense_I51M exm1276293 17 2203951 [T/C] NM_017575 SMG6 EXON Missense_M32I exm1276295 17 2206951 [G/C] NM_017575 SMG6 EXON Missense_L22V exm-rs391300 17 2216258 [T/C] NM_021947 SRR Silent exm1276300 17 2218913 [A/G] NM_021947 SRR EXON Missense_R20Q exm1276310 17 2222188 [A/G] NM_021947 SRR EXON Missense_G122R exm1276328 17 2227019 [G/C] NM_021947,NM_018128 SRR,TSR1 EXON Missense_A292G,Silent exm1276338 17 2227572 [A/G] NM_021947,NM_018128 SRR,TSR1 EXON Silent,Missense_T778I exm1276341 17 2227654 [T/C] NM_021947,NM_018128 SRR,TSR1 EXON Silent,Missense_M751V exm1276342 17 2227655 [T/G] NM_021947,NM_018128 SRR,TSR1 EXON Silent,Missense_H750Q exm1276347 17 2227825 [A/G] NM_021947,NM_018128 SRR,TSR1 EXON Silent,Missense_R737W exm1276348 17 2227836 [A/G] NM_021947,NM_018128 SRR,TSR1 EXON Silent,Missense_T733M exm2225932 17 2227988 [T/C] NM_021947,NM_018128 SRR,TSR1 EXON Silent,Missense_N719S exm1276351 17 2228003 [T/C] NM_021947,NM_018128 SRR,TSR1 EXON Silent,Missense_R714H exm1276359 17 2228713 [T/C] NM_018128 TSR1 EXON Synonymous_A635A exm1276363 17 2232669 [T/C] NM_018128 TSR1 EXON Missense_R624Q exm1276368 17 2232741 [T/C] NM_018128 TSR1 EXON Missense_R600H exm1276377 17 2233823 [G/C] NM_018128 TSR1 EXON Missense_P586A exm1276379 17 2233880 [T/C] NM_018128 TSR1 EXON Missense_V567I exm1276381 17 2233918 [A/C] NM_018128 TSR1 EXON Missense_V554G exm1276389 17 2235469 [T/C] NM_018128 TSR1 EXON Missense_R497Q exm1276395 17 2235580 [T/C] NM_018128 TSR1 EXON Missense_D460G exm2225933 17 2235610 [A/G] NM_018128 TSR1 EXON Missense_I450T exm1276398 17 2236404 [T/C] NM_018128 TSR1 EXON Missense_S386G exm1276399 17 2236860 [T/C] NM_018128 TSR1 EXON Missense_E378K exm1276402 17 2236931 [A/G] NM_018128 TSR1 EXON Missense_S354F exm1276407 17 2237003 [A/G] NM_018128 TSR1 EXON Missense_A330V exm1276408 17 2237783 [C/G] NM_018128 TSR1 EXON Missense_P322A exm1276419 17 2238152 [T/C] NM_018128 TSR1 EXON Missense_K199E exm1276426 17 2238665 [T/C] NM_018128 TSR1 EXON Missense_M149V exm1276428 17 2238677 [T/C] NM_018128 TSR1 EXON Missense_V145I exm1276453 17 2240986 [A/G] NM_014853,NM_001098509 SGSM2,SGSM2 EXON Missense_G2S,Missense_G2S exm2272479 17 2255351 [T/C] NM_014853,NM_001098509 SGSM2,SGSM2 Silent,Silent exm-rs4790333 17 2262703 [T/C] NM_014853,NM_001098509 SGSM2,SGSM2 Silent,Silent exm1276462 17 2264966 [T/C] NM_014853,NM_001098509 SGSM2,SGSM2 EXON Missense_R57C,Missense_R57C exm1276465 17 2265033 [C/G] NM_014853,NM_001098509 SGSM2,SGSM2 EXON Missense_C79S,Missense_C79S exm1276470 17 2265058 [A/C] NM_014853,NM_001098509 SGSM2,SGSM2 EXON Missense_H87Q,Missense_H87Q exm1276492 17 2266381 [T/G] NM_014853,NM_001098509 SGSM2,SGSM2 EXON Missense_G209C,Missense_G209C exm1276501 17 2266799 [A/G] NM_014853,NM_001098509 SGSM2,SGSM2 EXON Missense_R238K,Missense_R238K exm2252901 17 2266812 [T/C] NM_014853,NM_001098509 SGSM2,SGSM2 EXON Synonymous_C242C,Synonymous_C242C exm1276510 17 2266892 [T/C] NM_014853,NM_001098509 SGSM2,SGSM2 EXON Missense_P269L,Missense_P269L exm1276525 17 2268311 [A/G] NM_014853,NM_001098509 SGSM2,SGSM2 EXON Missense_R374Q,Missense_R374Q exm1276535 17 2268590 [A/G] NM_014853,NM_001098509 SGSM2,SGSM2 EXON Missense_D415N,Missense_D415N exm1276536 17 2268594 [A/G] NM_014853,NM_001098509 SGSM2,SGSM2 EXON Missense_Y416C,Missense_Y416C exm1276542 17 2270604 [T/C] NM_014853,NM_001098509 SGSM2,SGSM2 EXON Missense_A443V,Silent exm1276548 17 2270645 [A/G] NM_014853,NM_001098509 SGSM2,SGSM2 EXON Missense_A457T,Silent exm1276552 17 2274557 [T/C] NM_014853,NM_001098509 SGSM2,SGSM2 EXON Synonymous_D475D,Synonymous_N430N exm1276564 17 2275531 [T/C] NM_014853,NM_001098509 SGSM2,SGSM2 EXON Missense_S542F,Missense_S497F exm1276583 17 2276271 [T/C] NM_014853,NM_001098509 SGSM2,SGSM2 EXON Missense_R605W,Missense_R560W exm1276600 17 2276707 [A/G] NM_014853,NM_001098509 SGSM2,SGSM2 EXON Missense_R667Q,Missense_R622Q exm1276604 17 2276727 [T/C] NM_014853,NM_001098509 SGSM2,SGSM2 EXON Missense_R674C,Missense_R629C exm1276611 17 2276785 [A/G] NM_014853,NM_001098509 SGSM2,SGSM2 EXON Missense_R693Q,Missense_R648Q exm1878988 17 2278821 [T/G] NM_014853,NM_001098509 SGSM2,SGSM2 EXON Missense_E712D,Missense_E667D exm1276633 17 2279108 [T/C] NM_014853,NM_001098509 SGSM2,SGSM2 EXON Missense_P808L,Missense_P763L exm1878991 17 2279155 [A/G] NM_014853,NM_001098509 SGSM2,SGSM2 EXON Missense_A824T,Missense_A779T exm1276642 17 2279446 [A/C] NM_014853,NM_001098509 SGSM2,SGSM2 EXON Missense_T834P,Missense_T789P exm1276674 17 2282779 [A/G] NM_014853,NM_001098509 SGSM2,SGSM2 EXON Missense_V1041I,Missense_V996I exm2252903 17 2290462 [A/G] NM_020310 MNT EXON Synonymous_H494H exm1276693 17 2290462 [A/G] NM_020310 MNT EXON Synonymous_H494H exm1276718 17 2290850 [T/G] NM_020310 MNT EXON Missense_K365T exm1276720 17 2290901 [A/G] NM_020310 MNT EXON Missense_A348V exm1276725 17 2291195 [A/G] NM_020310 MNT EXON Missense_T319M exm1276805 17 2323437 [A/G] NM_024086 METTL16 EXON Missense_R506C exm1276812 17 2323517 [T/C] NM_024086 METTL16 EXON Missense_S479N exm1276813 17 2323541 [T/C] NM_024086 METTL16 EXON Missense_K471R exm1276818 17 2323601 [T/C] NM_024086 METTL16 EXON Missense_Q451R exm1276820 17 2323607 [A/G] NM_024086 METTL16 EXON Missense_P449L exm1276822 17 2323613 [A/G] NM_024086 METTL16 EXON Missense_P447L exm1276838 17 2324089 [A/G] NM_024086 METTL16 EXON Missense_S333L exm1276839 17 2324092 [T/C] NM_024086 METTL16 EXON Missense_R332H exm-rs9891572 17 2428508 [T/C] exm2252906 17 2577462 [A/G] NM_000430 PAFAH1B1 EXON Synonymous_V260V exm1276897 17 2579856 [A/G] NM_000430 PAFAH1B1 EXON Missense_I320V exm1276900 17 2579900 [T/C] NM_000430 PAFAH1B1 EXON Synonymous_L334L exm1276935 17 2595180 [C/G] NM_015229 CLUH EXON Missense_D1183H exm1276943 17 2595703 [A/G] NM_015229 CLUH EXON Missense_A1132V exm1276961 17 2597510 [T/C] NM_015229 CLUH EXON Missense_V961M exm1276968 17 2597851 [T/C] NM_015229 CLUH EXON Missense_V915M exm1277017 17 2600169 [A/G] NM_015229 CLUH EXON Missense_P639S exm1277018 17 2600186 [A/G] NM_015229 CLUH EXON Missense_A633V exm1277027 17 2601266 [T/C] NM_015229 CLUH EXON Missense_A591T exm1277048 17 2601664 [A/G] NM_015229 CLUH EXON Missense_T458M exm1277059 17 2601836 [T/C] NM_015229 CLUH EXON Missense_I401V exm1879254 17 2603683 [A/G] NM_015229 CLUH EXON Missense_I382T exm1277080 17 2604519 [A/G] NM_015229 CLUH EXON Missense_R276C exm1879264 17 2605027 [A/G] NM_015229 CLUH EXON Synonymous_S170S exm2260636 17 2631985 [T/C] exm-rs12603284 17 2771512 [T/C] NM_001100398,NM_015085 RAP1GAP2,RAP1GAP2 Silent,Silent exm1277156 17 2867232 [A/G] NM_001100398,NM_015085 RAP1GAP2,RAP1GAP2 EXON Missense_G106D,Missense_G121D exm1277165 17 2883588 [A/C] NM_001100398,NM_015085 RAP1GAP2,RAP1GAP2 EXON Missense_L187M,Missense_L202M exm1277168 17 2883607 [A/G] NM_001100398,NM_015085 RAP1GAP2,RAP1GAP2 EXON Missense_R193Q,Missense_R208Q exm1277174 17 2884541 [A/G] NM_001100398,NM_015085 RAP1GAP2,RAP1GAP2 EXON Missense_K228R,Missense_K243R exm2252929 17 2886642 [T/C] NM_001100398,NM_015085 RAP1GAP2,RAP1GAP2 Silent,Silent exm1277179 17 2898631 [T/C] NM_001100398,NM_015085 RAP1GAP2,RAP1GAP2 EXON Synonymous_G290G,Synonymous_G305G exm1880884 17 2901626 [A/G] NM_001100398,NM_015085 RAP1GAP2,RAP1GAP2 EXON Missense_V371I,Missense_V386I exm2226038 17 2901638 [A/G] NM_001100398,NM_015085 RAP1GAP2,RAP1GAP2 EXON Missense_E375K,Missense_E390K exm1277204 17 2911354 [T/C] NM_001100398,NM_015085 RAP1GAP2,RAP1GAP2 EXON Missense_A455V,Missense_A470V exm2252931 17 2911421 [G/C] NM_001100398,NM_015085 RAP1GAP2,RAP1GAP2 EXON Synonymous_G477G,Synonymous_G492G exm1277238 17 2934257 [T/C] NM_001100398,NM_015085 RAP1GAP2,RAP1GAP2 EXON Missense_R702C,Missense_R717C exm1277241 17 2934291 [T/C] NM_001100398,NM_015085 RAP1GAP2,RAP1GAP2 EXON Missense_A713V,Missense_A728V exm2273540 17 2940759 [A/G] NM_001100398,NM_015085 RAP1GAP2,RAP1GAP2 EXON Silent,Silent exm1277292 17 2995429 [T/C] NM_002548 OR1D2 EXON Missense_I288V exm1277293 17 2995463 [T/C] NM_002548 OR1D2 EXON Missense_M276I exm1277297 17 2995572 [A/G] NM_002548 OR1D2 EXON Missense_T240I exm1277303 17 2995651 [T/C] NM_002548 OR1D2 EXON Missense_V214M exm1277309 17 2995768 [A/G] NM_002548 OR1D2 EXON Missense_H175Y exm1277315 17 2995927 [A/G] NM_002548 OR1D2 EXON Missense_R122C exm2226067 17 2995987 [A/G] NM_002548 OR1D2 EXON Missense_Y102H exm1277336 17 3029924 [A/G] NM_003555 OR1G1 EXON Missense_R308W exm1277339 17 3030110 [A/G] NM_003555 OR1G1 EXON Missense_S246P exm1277344 17 3030185 [T/C] NM_003555 OR1G1 EXON Missense_V221I exm1277346 17 3030190 [A/G] NM_003555 OR1G1 EXON Missense_T219M exm1277355 17 3030380 [A/G] NM_003555 OR1G1 EXON Missense_S156P exm1277357 17 3030413 [T/C] NM_003555 OR1G1 EXON Missense_V145M exm1277359 17 3030455 [A/G] NM_003555 OR1G1 EXON Missense_H131Y exm1277370 17 3030582 [C/G] NM_003555 OR1G1 EXON Missense_Q88H exm1277378 17 3030747 [T/G] NM_003555 OR1G1 EXON Missense_F33L exm1277403 17 3101227 [T/C] NM_012352 OR1A2 EXON Missense_R139W exm1277408 17 3101300 [T/C] NM_012352 OR1A2 EXON Missense_T163I exm1277409 17 3101377 [T/C] NM_012352 OR1A2 EXON Missense_C189R exm1277416 17 3101542 [T/C] NM_012352 OR1A2 EXON Missense_L244F exm1277417 17 3101573 [T/C] NM_012352 OR1A2 EXON Missense_T254M exm1277418 17 3101578 [T/G] NM_012352 OR1A2 EXON Missense_G256C exm1277421 17 3101590 [T/C] NM_012352 OR1A2 EXON Missense_R260C exm1277422 17 3101591 [A/G] NM_012352 OR1A2 EXON Missense_R260H exm1277424 17 3101671 [T/A] NM_012352 OR1A2 EXON Missense_I287F exm1277425 17 3101691 [T/G] NM_012352 OR1A2 EXON Missense_W293C exm1277428 17 3101710 [T/C] NM_012352 OR1A2 EXON Nonsense_Q300X exm1277441 17 3119278 [T/C] NM_014565 OR1A1 EXON Nonsense_R122X exm1277443 17 3119297 [A/G] NM_014565 OR1A1 EXON Missense_R128H exm1277446 17 3119368 [A/G] NM_014565 OR1A1 EXON Missense_G152R exm1277449 17 3119450 [A/G] NM_014565 OR1A1 EXON Missense_C179Y exm1277453 17 3119569 [T/C] NM_014565 OR1A1 EXON Nonsense_R219X exm1277454 17 3119609 [A/G] NM_014565 OR1A1 EXON Missense_G232D exm1277455 17 3119611 [A/G] NM_014565 OR1A1 EXON Missense_V233M exm1277456 17 3119648 [T/C] NM_014565 OR1A1 EXON Missense_T245M exm2252939 17 3119673 [A/G] NM_014565 OR1A1 EXON Synonymous_T253T exm1881629 17 3119758 [A/G] NM_014565 OR1A1 EXON Missense_M282V exm1277466 17 3119767 [T/C] NM_014565 OR1A1 EXON Missense_P285S exm1277469 17 3119840 [T/C] NM_014565 OR1A1 EXON Missense_S309L exm1277488 17 3181284 [A/C] NM_002551 OR3A2 EXON Missense_G316W exm1277492 17 3181326 [T/C] NM_002551 OR3A2 EXON Missense_R302G exm1277493 17 3181356 [C/G] NM_002551 OR3A2 EXON Missense_P292A exm1881725 17 3195087 [A/G] NM_002550 OR3A1 EXON Nonsense_R264X exm1277546 17 3195101 [A/G] NM_002550 OR3A1 EXON Missense_I259T exm1277547 17 3195115 [T/G] NM_002550 OR3A1 EXON Missense_F254L exm1277553 17 3195207 [T/C] NM_002550 OR3A1 EXON Missense_V224M exm1277556 17 3195245 [T/C] NM_002550 OR3A1 EXON Missense_G211D exm1277576 17 3195503 [T/C] NM_002550 OR3A1 EXON Missense_R125Q exm1881731 17 3195599 [A/C] NM_002550 OR3A1 EXON Missense_R93L exm1277585 17 3195600 [A/G] NM_002550 OR3A1 EXON Missense_R93C exm1277593 17 3195645 [T/C] NM_002550 OR3A1 EXON Missense_S78G exm1881732 17 3195698 [T/G] NM_002550 OR3A1 EXON Missense_T60N exm1277594 17 3195743 [T/C] NM_002550 OR3A1 EXON Missense_N45S exm1277598 17 3195777 [A/T] NM_002550 OR3A1 EXON Missense_F34I exm1277599 17 3195786 [A/G] NM_002550 OR3A1 EXON Missense_F31L exm1881734 17 3195810 [A/C] NM_002550 OR3A1 EXON Missense_A23S exm1881735 17 3195854 [T/C] NM_002550 OR3A1 EXON Missense_N8S exm-rs231678 17 3214181 [T/G] NR_024128 OR3A4P EXON Silent exm-rs227981 17 3289173 [T/G] exm1277678 17 3301421 [A/G] NM_003553 OR1E1 EXON Missense_A95V exm1277716 17 3324574 [A/G] NM_012373 OR3A3 EXON Missense_R238H exm1277724 17 3324810 [A/G] NM_012373 OR3A3 EXON Missense_K317E exm1277753 17 3336703 [T/C] NM_003554 OR1E2 EXON Missense_M145V exm1277754 17 3336721 [T/G] NM_003554 OR1E2 EXON Missense_L139M exm1277755 17 3336723 [A/G] NM_003554 OR1E2 EXON Missense_L138P exm1277762 17 3336811 [A/C] NM_003554 OR1E2 EXON Missense_D109Y exm1882002 17 3343611 [T/G] NM_032598,NM_001170698,NM_001170695,NM_001170699,NM_001170697,NM_001170696 SPATA22,SPATA22,SPATA22,SPATA22,SPATA22,SPATA22 EXON Missense_I308L,Missense_I308L,Missense_I308L,Silent,Missense_I308L,Missense_I265L exm1277785 17 3343629 [A/G] NM_032598,NM_001170698,NM_001170695,NM_001170699,NM_001170697,NM_001170696 SPATA22,SPATA22,SPATA22,SPATA22,SPATA22,SPATA22 EXON Missense_R302C,Missense_R302C,Missense_R302C,Missense_S269L,Missense_R302C,Missense_R259C exm1277786 17 3346474 [A/C] NM_032598,NM_001170698,NM_001170695,NM_001170699,NM_001170697,NM_001170696 SPATA22,SPATA22,SPATA22,SPATA22,SPATA22,SPATA22 EXON Nonsense_Y298X,Nonsense_Y298X,Nonsense_Y298X,Silent,Nonsense_Y298X,Nonsense_Y255X exm1277792 17 3349808 [A/G] NM_032598,NM_001170698,NM_001170695,NM_001170699,NM_001170697,NM_001170696 SPATA22,SPATA22,SPATA22,SPATA22,SPATA22,SPATA22 EXON Missense_R254C,Missense_R254C,Missense_R254C,Missense_R254C,Missense_R254C,Missense_R211C exm1277803 17 3352271 [A/G] NM_032598,NM_001170698,NM_001170695,NM_001170699,NM_001170697,NM_001170696 SPATA22,SPATA22,SPATA22,SPATA22,SPATA22,SPATA22 EXON Missense_R168C,Missense_R168C,Missense_R168C,Missense_R168C,Missense_R168C,Missense_R125C exm1277804 17 3352286 [A/G] NM_032598,NM_001170698,NM_001170695,NM_001170699,NM_001170697,NM_001170696 SPATA22,SPATA22,SPATA22,SPATA22,SPATA22,SPATA22 EXON Missense_P163S,Missense_P163S,Missense_P163S,Missense_P163S,Missense_P163S,Missense_P120S exm1277805 17 3352294 [A/G] NM_032598,NM_001170698,NM_001170695,NM_001170699,NM_001170697,NM_001170696 SPATA22,SPATA22,SPATA22,SPATA22,SPATA22,SPATA22 EXON Missense_I160T,Missense_I160T,Missense_I160T,Missense_I160T,Missense_I160T,Missense_I117T exm1277806 17 3352309 [T/C] NM_032598,NM_001170698,NM_001170695,NM_001170699,NM_001170697,NM_001170696 SPATA22,SPATA22,SPATA22,SPATA22,SPATA22,SPATA22 EXON Missense_Q155R,Missense_Q155R,Missense_Q155R,Missense_Q155R,Missense_Q155R,Missense_Q112R exm1277809 17 3352331 [T/C] NM_032598,NM_001170698,NM_001170695,NM_001170699,NM_001170697,NM_001170696 SPATA22,SPATA22,SPATA22,SPATA22,SPATA22,SPATA22 EXON Missense_V148M,Missense_V148M,Missense_V148M,Missense_V148M,Missense_V148M,Missense_V105M exm1277810 17 3352351 [T/C] NM_032598,NM_001170698,NM_001170695,NM_001170699,NM_001170697,NM_001170696 SPATA22,SPATA22,SPATA22,SPATA22,SPATA22,SPATA22 EXON Missense_D141G,Missense_D141G,Missense_D141G,Missense_D141G,Missense_D141G,Missense_D98G exm1277815 17 3352438 [C/G] NM_032598,NM_001170698,NM_001170695,NM_001170699,NM_001170697,NM_001170696 SPATA22,SPATA22,SPATA22,SPATA22,SPATA22,SPATA22 EXON Missense_R112T,Missense_R112T,Missense_R112T,Missense_R112T,Missense_R112T,Missense_R69T exm1277816 17 3365852 [A/G] NM_032598,NM_001170698,NM_001170695,NM_001170699,NM_001170697,NM_001170696 SPATA22,SPATA22,SPATA22,SPATA22,SPATA22,SPATA22 EXON Missense_S85F,Missense_S85F,Missense_S85F,Missense_S85F,Missense_S85F,Missense_S42F exm1277819 17 3366063 [T/C] NM_032598,NM_001170698,NM_001170695,NM_001170699,NM_001170697,NM_001170696 SPATA22,SPATA22,SPATA22,SPATA22,SPATA22,SPATA22 Silent,Silent,Silent,Silent,Silent,Silent exm1277823 17 3370783 [C/G] NM_032598,NM_001170698,NM_001170695,NM_001170699,NM_001170697,NM_001170696 SPATA22,SPATA22,SPATA22,SPATA22,SPATA22,SPATA22 EXON Missense_L37V,Missense_L37V,Missense_L37V,Missense_L37V,Missense_L37V,Silent exm1277830 17 3379463 [T/C] NM_001128085,NM_000049 ASPA,ASPA EXON Missense_C4R,Missense_C4R exm1277834 17 3379665 [A/G] NM_001128085,NM_000049 ASPA,ASPA EXON Missense_R71H,Missense_R71H exm1277835 17 3384905 [T/C] NM_001128085,NM_000049 ASPA,ASPA EXON Missense_M82T,Missense_M82T exm1277844 17 3386869 [T/C] NM_001128085,NM_000049 ASPA,ASPA EXON Missense_I170T,Missense_I170T exm1277850 17 3397668 [T/C] NM_001128085,NM_000049 ASPA,ASPA EXON Missense_I220T,Missense_I220T exm1277858 17 3402272 [A/G] NM_001128085,NM_000049 ASPA,ASPA EXON Missense_V278M,Missense_V278M exm1277862 17 3402294 [A/C] NM_001128085,NM_000049 ASPA,ASPA EXON Missense_E285A,Missense_E285A exm1277876 17 3417263 [A/G] NM_145068,NM_001258205 TRPV3,TRPV3 EXON Missense_T774I,Missense_T775I exm1277889 17 3419764 [A/G] NM_145068,NM_001258205 TRPV3,TRPV3 EXON Nonsense_R729X,Nonsense_R729X exm1277896 17 3421877 [T/C] NM_145068,NM_001258205 TRPV3,TRPV3 EXON Missense_R693H,Missense_R693H exm1277912 17 3422073 [T/C] NM_145068,NM_001258205 TRPV3,TRPV3 EXON Missense_A628T,Missense_A628T exm1277915 17 3422127 [T/C] NM_145068,NM_001258205 TRPV3,TRPV3 EXON Missense_E610K,Missense_E610K exm1277927 17 3427535 [T/C] NM_145068,NM_001258205 TRPV3,TRPV3 EXON Missense_R567Q,Missense_R567Q exm1277934 17 3427581 [T/C] NM_145068,NM_001258205 TRPV3,TRPV3 EXON Missense_V552M,Missense_V552M exm1882596 17 3431354 [A/C] NM_145068,NM_001258205 TRPV3,TRPV3 EXON Missense_V490L,Missense_V490L exm1277948 17 3431358 [C/G] NM_145068,NM_001258205 TRPV3,TRPV3 EXON Missense_M488I,Missense_M488I exm1277954 17 3431403 [G/C] NM_145068,NM_001258205 TRPV3,TRPV3 EXON Missense_L473F,Missense_L473F exm1277961 17 3432239 [T/C] NM_145068,NM_001258205 TRPV3,TRPV3 EXON Missense_M431I,Missense_M431I exm1277974 17 3433458 [A/G] NM_145068,NM_001258205 TRPV3,TRPV3 EXON Missense_R369W,Missense_R369W exm1882612 17 3433472 [T/G] NM_145068,NM_001258205 TRPV3,TRPV3 EXON Missense_E364A,Missense_E364A exm1277983 17 3435971 [T/C] NM_145068,NM_001258205 TRPV3,TRPV3 EXON Missense_A349T,Missense_A349T exm1277990 17 3436058 [T/C] NM_145068,NM_001258205 TRPV3,TRPV3 EXON Missense_M320V,Missense_M320V exm1277991 17 3436060 [A/C] NM_145068,NM_001258205 TRPV3,TRPV3 EXON Missense_R319L,Missense_R319L exm2272570 17 3440229 [T/G] NM_145068,NM_001258205 TRPV3,TRPV3 Silent,Silent exm1278012 17 3445867 [T/C] NM_145068,NM_001258205 TRPV3,TRPV3 EXON Missense_D198N,Missense_D198N exm1278016 17 3445905 [T/C] NM_145068,NM_001258205 TRPV3,TRPV3 EXON Missense_E185G,Missense_E185G exm1278018 17 3445919 [T/G] NM_145068,NM_001258205 TRPV3,TRPV3 EXON Missense_N180K,Missense_N180K exm1278025 17 3446840 [T/C] NM_145068,NM_001258205 TRPV3,TRPV3 EXON Missense_V132M,Missense_V132M exm1278028 17 3446885 [T/C] NM_145068,NM_001258205 TRPV3,TRPV3 EXON Missense_R117G,Missense_R117G exm1278035 17 3447959 [A/G] NM_145068,NM_001258205 TRPV3,TRPV3 EXON Synonymous_C75C,Synonymous_C75C exm1278038 17 3448468 [A/G] NM_145068,NM_001258205 TRPV3,TRPV3 EXON Missense_R73W,Missense_R73W exm1278042 17 3458050 [C/G] NM_145068,NM_001258205 TRPV3,TRPV3 EXON Missense_A32G,Missense_A32G exm1278046 17 3458072 [T/C] NM_145068,NM_001258205 TRPV3,TRPV3 EXON Missense_I25V,Missense_I25V exm1278055 17 3470167 [A/G] NM_080705,NM_080706,NM_080704,NM_018727 TRPV1,TRPV1,TRPV1,TRPV1 EXON Missense_S821F,Missense_S821F,Missense_S821F,Missense_S821F exm1278057 17 3470230 [A/G] NM_080705,NM_080706,NM_080704,NM_018727 TRPV1,TRPV1,TRPV1,TRPV1 EXON Missense_A800V,Missense_A800V,Missense_A800V,Missense_A800V exm1278071 17 3475417 [T/C] NM_080705,NM_080706,NM_080704,NM_018727 TRPV1,TRPV1,TRPV1,TRPV1 EXON Missense_R744G,Missense_R744G,Missense_R744G,Missense_R744G exm1278074 17 3475435 [A/C] NM_080705,NM_080706,NM_080704,NM_018727 TRPV1,TRPV1,TRPV1,TRPV1 EXON Missense_D738Y,Missense_D738Y,Missense_D738Y,Missense_D738Y exm1278095 17 3477184 [A/G] NM_080705,NM_080706,NM_080704,NM_018727 TRPV1,TRPV1,TRPV1,TRPV1 EXON Missense_W616R,Missense_W616R,Missense_W616R,Missense_W616R exm1278098 17 3477195 [A/G] NM_080705,NM_080706,NM_080704,NM_018727 TRPV1,TRPV1,TRPV1,TRPV1 EXON Missense_T612M,Missense_T612M,Missense_T612M,Missense_T612M exm1278101 17 3477248 [T/C] NM_080705,NM_080706,NM_080704,NM_018727 TRPV1,TRPV1,TRPV1,TRPV1 EXON Synonymous_A594A,Synonymous_A594A,Synonymous_A594A,Synonymous_A594A exm2274885 17 3480433 [A/G] NM_080705,NM_080706,NM_080704,NM_018727 TRPV1,TRPV1,TRPV1,TRPV1 EXON Synonymous_F589F,Synonymous_F589F,Synonymous_F589F,Synonymous_F589F exm1278107 17 3480447 [T/C] NM_080705,NM_080706,NM_080704,NM_018727 TRPV1,TRPV1,TRPV1,TRPV1 EXON Missense_I585V,Missense_I585V,Missense_I585V,Missense_I585V exm1882773 17 3483776 [T/C] NM_080705,NM_080706,NM_080704,NM_018727 TRPV1,TRPV1,TRPV1,TRPV1 EXON Missense_V508M,Missense_V508M,Missense_V508M,Missense_V508M exm1278116 17 3483785 [T/C] NM_080705,NM_080706,NM_080704,NM_018727 TRPV1,TRPV1,TRPV1,TRPV1 EXON Missense_T505A,Missense_T505A,Missense_T505A,Missense_T505A exm1278117 17 3483799 [T/C] NM_080705,NM_080706,NM_080704,NM_018727 TRPV1,TRPV1,TRPV1,TRPV1 EXON Missense_R500Q,Missense_R500Q,Missense_R500Q,Missense_R500Q exm1278120 17 3486631 [T/C] NM_080705,NM_080706,NM_080704,NM_018727 TRPV1,TRPV1,TRPV1,TRPV1 Silent,Silent,Silent,Silent exm1278122 17 3486700 [T/C] NM_080705,NM_080706,NM_080704,NM_018727 TRPV1,TRPV1,TRPV1,TRPV1 EXON Missense_G470R,Missense_G470R,Missense_G470R,Missense_G470R exm1278123 17 3486702 [A/G] NM_080705,NM_080706,NM_080704,NM_018727 TRPV1,TRPV1,TRPV1,TRPV1 EXON Missense_T469I,Missense_T469I,Missense_T469I,Missense_T469I exm1882865 17 3489073 [T/C] NM_080705,NM_080706,NM_080704,NM_018727 TRPV1,TRPV1,TRPV1,TRPV1 EXON Missense_V458M,Missense_V458M,Missense_V458M,Missense_V458M exm1278126 17 3489148 [A/G] NM_080705,NM_080706,NM_080704,NM_018727 TRPV1,TRPV1,TRPV1,TRPV1 EXON Missense_R433C,Missense_R433C,Missense_R433C,Missense_R433C exm1278127 17 3489155 [T/G] NM_080705,NM_080706,NM_080704,NM_018727 TRPV1,TRPV1,TRPV1,TRPV1 EXON Missense_F430L,Missense_F430L,Missense_F430L,Missense_F430L exm1278128 17 3489216 [T/C] NM_080705,NM_080706,NM_080704,NM_018727 TRPV1,TRPV1,TRPV1,TRPV1 EXON Missense_R410H,Missense_R410H,Missense_R410H,Missense_R410H exm1278135 17 3491622 [T/C] NM_080705,NM_080706,NM_080704,NM_018727 TRPV1,TRPV1,TRPV1,TRPV1 EXON Missense_E362K,Missense_E362K,Missense_E362K,Missense_E362K exm1278142 17 3493200 [G/C] NM_080705,NM_080706,NM_080704,NM_018727 TRPV1,TRPV1,TRPV1,TRPV1 EXON Missense_M315I,Missense_M315I,Missense_M315I,Missense_M315I exm1278148 17 3493285 [A/G] NM_080705,NM_080706,NM_080704,NM_018727 TRPV1,TRPV1,TRPV1,TRPV1 EXON Missense_T287M,Missense_T287M,Missense_T287M,Missense_T287M exm1278153 17 3493547 [A/G] NM_080705,NM_080706,NM_080704,NM_018727 TRPV1,TRPV1,TRPV1,TRPV1 EXON Synonymous_F248F,Synonymous_F248F,Synonymous_F248F,Synonymous_F248F exm1278158 17 3493636 [T/C] NM_080705,NM_080706,NM_080704,NM_018727 TRPV1,TRPV1,TRPV1,TRPV1 EXON Missense_T219A,Missense_T219A,Missense_T219A,Missense_T219A exm1882937 17 3494622 [T/C] NM_080705,NM_080706,NM_080704,NM_018727 TRPV1,TRPV1,TRPV1,TRPV1 EXON Missense_A104T,Missense_A104T,Missense_A104T,Missense_A104T exm1278182 17 3495374 [A/G] NM_080705,NM_080706,NM_080704,NM_018727 TRPV1,TRPV1,TRPV1,TRPV1 EXON Missense_P91S,Missense_P91S,Missense_P91S,Missense_P91S exm1278183 17 3495378 [A/G] NM_080705,NM_080706,NM_080704,NM_018727 TRPV1,TRPV1,TRPV1,TRPV1 EXON Synonymous_D89D,Synonymous_D89D,Synonymous_D89D,Synonymous_D89D exm1278185 17 3495391 [T/C] NM_080705,NM_080706,NM_080704,NM_018727 TRPV1,TRPV1,TRPV1,TRPV1 EXON Missense_Q85R,Missense_Q85R,Missense_Q85R,Missense_Q85R exm1278197 17 3495578 [G/C] NM_080705,NM_080706,NM_080704,NM_018727 TRPV1,TRPV1,TRPV1,TRPV1 EXON Missense_D23H,Missense_D23H,Missense_D23H,Missense_D23H exm1278198 17 3495589 [T/C] NM_080705,NM_080706,NM_080704,NM_018727 TRPV1,TRPV1,TRPV1,TRPV1 EXON Missense_D19G,Missense_D19G,Missense_D19G,Missense_D19G exm1278200 17 3495607 [A/G] NM_080705,NM_080706,NM_080704,NM_018727 TRPV1,TRPV1,TRPV1,TRPV1 EXON Missense_A13V,Missense_A13V,Missense_A13V,Missense_A13V exm1278201 17 3495618 [G/C] NM_080705,NM_080706,NM_080704,NM_018727 TRPV1,TRPV1,TRPV1,TRPV1 EXON Missense_L9F,Missense_L9F,Missense_L9F,Missense_L9F exm1278205 17 3513856 [A/G] NM_013276 SHPK EXON Missense_X479Q exm1278211 17 3514028 [G/C] NM_013276 SHPK EXON Missense_D421E exm1278213 17 3514048 [G/C] NM_013276 SHPK EXON Missense_P415A exm1278214 17 3514054 [T/C] NM_013276 SHPK EXON Missense_M413V exm1278240 17 3518742 [T/C] NM_013276 SHPK EXON Missense_A305T exm1278241 17 3518753 [A/G] NM_013276 SHPK EXON Missense_T301M exm1278248 17 3524560 [T/C] NM_013276 SHPK EXON Missense_Y265C exm1882995 17 3524660 [T/C] NM_013276 SHPK EXON Missense_E232K exm1278254 17 3524695 [A/G] NM_013276 SHPK EXON Missense_S220L exm1278255 17 3526637 [T/C] NM_013276 SHPK EXON Missense_E215K exm1278266 17 3527384 [A/G] NM_013276 SHPK EXON Missense_T151M exm1883002 17 3527454 [T/G] NM_013276 SHPK EXON Missense_Q128K exm1278274 17 3527481 [A/G] NM_013276 SHPK EXON Nonsense_R119X exm1278275 17 3527487 [T/C] NM_013276 SHPK EXON Missense_E117K exm1278278 17 3533500 [T/A] NM_013276 SHPK EXON Missense_Q103H exm1883024 17 3533547 [T/C] NM_013276 SHPK EXON Missense_G88R exm1278309 17 3550792 [T/C] NM_001031681,NM_004937 CTNS,CTNS EXON Missense_S39L,Missense_S39L exm1278312 17 3550800 [A/G] NM_001031681,NM_004937 CTNS,CTNS EXON Missense_V42I,Missense_V42I exm1278317 17 3552220 [A/G] NM_001031681,NM_004937 CTNS,CTNS EXON Missense_D74N,Missense_D74N exm1278323 17 3558394 [A/G] NM_001031681,NM_004937 CTNS,CTNS EXON Missense_G110S,Missense_G110S exm1278325 17 3558517 [T/C] NM_001031681,NM_004937 CTNS,CTNS EXON Missense_P111L,Missense_P111L exm2274886 17 3558549 [A/G] NM_001031681,NM_004937 CTNS,CTNS EXON Missense_A122T,Missense_A122T exm2274887 17 3558553 [T/G] NM_001031681,NM_004937 CTNS,CTNS EXON Missense_I123S,Missense_I123S exm1278329 17 3558599 [A/G] NM_001031681,NM_004937 CTNS,CTNS EXON Nonsense_W138X,Nonsense_W138X exm1278330 17 3558629 [A/G] NM_001031681,NM_004937 CTNS,CTNS EXON Missense_M148I,Missense_M148I exm1278335 17 3559781 [T/C] NM_001031681,NM_004937 CTNS,CTNS EXON Synonymous_S154S,Synonymous_S154S exm1278347 17 3560069 [A/G] NM_001031681,NM_004937 CTNS,CTNS EXON Missense_V221M,Missense_V221M exm1278350 17 3561302 [A/G] NM_001031681,NM_004937 CTNS,CTNS EXON Missense_G229S,Missense_G229S exm1278351 17 3561311 [T/C] NM_001031681,NM_004937 CTNS,CTNS EXON Missense_R232C,Missense_R232C exm1278352 17 3561312 [A/G] NM_001031681,NM_004937 CTNS,CTNS EXON Missense_R232H,Missense_R232H exm1278359 17 3561396 [T/C] NM_001031681,NM_004937 CTNS,CTNS EXON Missense_T260I,Missense_T260I exm1278372 17 3563268 [T/C] NM_001031681,NM_004937 CTNS,CTNS EXON Synonymous_N323N,Synonymous_N323N exm1278373 17 3563269 [A/G] NM_001031681,NM_004937 CTNS,CTNS EXON Missense_D324N,Missense_D324N exm1278386 17 3563925 [A/G] NM_001031681,NM_004937 CTNS,CTNS EXON Missense_R367H,Silent exm1278388 17 3563963 [C/G] NM_001031681,NM_004937 CTNS,CTNS EXON Missense_P380A,Silent exm1278389 17 3563976 [T/C] NM_001031681,NM_004937 CTNS,CTNS EXON Missense_P384L,Silent exm2273541 17 3564073 [A/G] NM_001031681,NM_004937 CTNS,CTNS EXON Silent,Silent exm2273542 17 3564084 [T/C] NM_001031681,NM_004937 CTNS,CTNS EXON Silent,Silent exm2273543 17 3564378 [T/C] NM_001031681,NM_004937 CTNS,CTNS EXON Silent,Silent exm1278399 17 3567049 [A/G] NR_037928,NM_001204698,NM_014604 P2RX5-TAX1BP3,TAX1BP3,TAX1BP3 EXON Silent,Missense_L97P,Missense_L123P exm1278416 17 3568068 [A/G] NR_037928,NM_001204698,NM_014604 P2RX5-TAX1BP3,TAX1BP3,TAX1BP3 EXON Silent,Missense_R22C,Missense_R22C exm2252962 17 3569913 [T/G] NR_037928,NM_001204698,NM_014604 P2RX5-TAX1BP3,TAX1BP3,TAX1BP3 Silent,Silent,Silent exm1278451 17 3582950 [A/G] NR_037928,NM_001204520,NM_175080,NM_002561,NM_001204519 P2RX5-TAX1BP3,P2RX5,P2RX5,P2RX5,P2RX5 EXON Silent,Missense_A374V,Missense_A373V,Missense_A398V,Missense_A397V exm1278452 17 3582954 [T/C] NR_037928,NM_001204520,NM_175080,NM_002561,NM_001204519 P2RX5-TAX1BP3,P2RX5,P2RX5,P2RX5,P2RX5 EXON Silent,Missense_E373K,Missense_E372K,Missense_E397K,Missense_E396K exm1278459 17 3583059 [A/G] NR_037928,NM_001204520,NM_175080,NM_002561,NM_001204519 P2RX5-TAX1BP3,P2RX5,P2RX5,P2RX5,P2RX5 EXON Silent,Nonsense_Q338X,Nonsense_Q337X,Nonsense_Q362X,Nonsense_Q361X exm1278463 17 3585200 [T/C] NR_037928,NM_001204520,NM_175080,NM_002561,NM_001204519 P2RX5-TAX1BP3,P2RX5,P2RX5,P2RX5,P2RX5 EXON Silent,Missense_E328K,Missense_E327K,Missense_E352K,Missense_E351K exm1278476 17 3591359 [A/G] NR_037928,NM_001204520,NM_175080,NM_002561,NM_001204519 P2RX5-TAX1BP3,P2RX5,P2RX5,P2RX5,P2RX5 EXON Silent,Missense_R286C,Missense_R285C,Missense_R310C,Missense_R309C exm1278486 17 3591933 [T/C] NR_037928,NM_001204520,NM_175080,NM_002561,NM_001204519 P2RX5-TAX1BP3,P2RX5,P2RX5,P2RX5,P2RX5 EXON Silent,Missense_G268R,Missense_G267R,Missense_G292R,Missense_G291R exm1278489 17 3592001 [A/G] NR_037928,NM_001204520,NM_175080,NM_002561,NM_001204519 P2RX5-TAX1BP3,P2RX5,P2RX5,P2RX5,P2RX5 EXON Silent,Missense_A245V,Missense_A244V,Missense_A269V,Missense_A268V exm1278501 17 3593389 [A/G] NR_037928,NM_001204520,NM_175080,NM_002561,NM_001204519 P2RX5-TAX1BP3,P2RX5,P2RX5,P2RX5,P2RX5 EXON Silent,Missense_R173C,Missense_R173C,Missense_R197C,Missense_R197C exm1278502 17 3593422 [T/C] NR_037928,NM_001204520,NM_175080,NM_002561,NM_001204519 P2RX5-TAX1BP3,P2RX5,P2RX5,P2RX5,P2RX5 EXON Silent,Missense_E162K,Missense_E162K,Missense_E186K,Missense_E186K exm1278512 17 3593953 [T/C] NR_037928,NM_001204520,NM_175080,NM_002561,NM_001204519 P2RX5-TAX1BP3,P2RX5,P2RX5,P2RX5,P2RX5 EXON Silent,Missense_A104T,Missense_A104T,Missense_A128T,Missense_A128T exm1278514 17 3594250 [T/C] NR_037928,NM_001204520,NM_175080,NM_002561,NM_001204519 P2RX5-TAX1BP3,P2RX5,P2RX5,P2RX5,P2RX5 EXON Silent,Silent,Silent,Synonymous_E120E,Synonymous_E120E exm-IND17-3541025 17 3594277 [D/I] NR_037928,NM_001204520,NM_175080,NM_002561,NM_001204519 P2RX5-TAX1BP3,P2RX5,P2RX5,P2RX5,P2RX5 EXON exm1278522 17 3594976 [A/G] NR_037928,NM_001204520,NM_175080,NM_002561,NM_001204519 P2RX5-TAX1BP3,P2RX5,P2RX5,P2RX5,P2RX5 EXON Silent,Missense_R84W,Missense_R84W,Missense_R84W,Missense_R84W exm1278526 17 3594990 [A/G] NR_037928,NM_001204520,NM_175080,NM_002561,NM_001204519 P2RX5-TAX1BP3,P2RX5,P2RX5,P2RX5,P2RX5 EXON Silent,Missense_S79L,Missense_S79L,Missense_S79L,Missense_S79L exm1278527 17 3595005 [A/G] NR_037928,NM_001204520,NM_175080,NM_002561,NM_001204519 P2RX5-TAX1BP3,P2RX5,P2RX5,P2RX5,P2RX5 EXON Silent,Missense_A74V,Missense_A74V,Missense_A74V,Missense_A74V exm1278528 17 3595009 [T/C] NR_037928,NM_001204520,NM_175080,NM_002561,NM_001204519 P2RX5-TAX1BP3,P2RX5,P2RX5,P2RX5,P2RX5 EXON Silent,Missense_V73M,Missense_V73M,Missense_V73M,Missense_V73M exm1278534 17 3599205 [A/T] NR_037928,NM_001204520,NM_175080,NM_002561,NM_001204519 P2RX5-TAX1BP3,P2RX5,P2RX5,P2RX5,P2RX5 EXON Silent,Missense_L32Q,Missense_L32Q,Missense_L32Q,Missense_L32Q exm1278539 17 3619993 [T/C] NM_002208 ITGAE EXON Missense_I1145V exm1278545 17 3620083 [A/C] NM_002208 ITGAE EXON Missense_V1115F exm1278555 17 3626989 [G/C] NM_002208 ITGAE EXON Missense_S1045W exm1278566 17 3627347 [T/C] NM_002208,NM_031965 ITGAE,GSG2 EXON Silent,Missense_R40W exm1278569 17 3627393 [A/G] NM_002208,NM_031965 ITGAE,GSG2 EXON Silent,Missense_G55D exm1278571 17 3627456 [T/A] NM_002208,NM_031965 ITGAE,GSG2 EXON Silent,Missense_V76E exm1278595 17 3627975 [A/T] NM_002208,NM_031965 ITGAE,GSG2 EXON Silent,Missense_M249K exm1278597 17 3628010 [A/G] NM_002208,NM_031965 ITGAE,GSG2 EXON Silent,Missense_A261T exm2226194 17 3628076 [A/G] NM_002208,NM_031965 ITGAE,GSG2 EXON Silent,Missense_G283S exm1278606 17 3628157 [T/C] NM_002208,NM_031965 ITGAE,GSG2 EXON Silent,Missense_R310W exm1278610 17 3628207 [C/G] NM_002208,NM_031965 ITGAE,GSG2 EXON Silent,Missense_R326S exm1278612 17 3628239 [C/G] NM_002208,NM_031965 ITGAE,GSG2 EXON Silent,Missense_S337T exm1278613 17 3628292 [T/C] NM_002208,NM_031965 ITGAE,GSG2 EXON Silent,Missense_R355C exm1278617 17 3628362 [T/C] NM_002208,NM_031965 ITGAE,GSG2 EXON Silent,Missense_V378A exm1278623 17 3628481 [T/C] NM_002208,NM_031965 ITGAE,GSG2 EXON Silent,Missense_S418P exm1278624 17 3628493 [A/G] NM_002208,NM_031965 ITGAE,GSG2 EXON Silent,Missense_N422D exm1278631 17 3628586 [T/C] NM_002208,NM_031965 ITGAE,GSG2 EXON Silent,Missense_S453P exm1278636 17 3628677 [A/T] NM_002208,NM_031965 ITGAE,GSG2 EXON Silent,Missense_K483I exm1278637 17 3628686 [T/G] NM_002208,NM_031965 ITGAE,GSG2 EXON Silent,Missense_R486L exm1278648 17 3628883 [T/C] NM_002208,NM_031965 ITGAE,GSG2 EXON Silent,Missense_R552C exm1278656 17 3629051 [C/G] NM_002208,NM_031965 ITGAE,GSG2 EXON Silent,Missense_G608R exm1883439 17 3629075 [A/C] NM_002208,NM_031965 ITGAE,GSG2 EXON Silent,Synonymous_R616R exm1278657 17 3629076 [A/G] NM_002208,NM_031965 ITGAE,GSG2 EXON Silent,Missense_R616Q exm1278673 17 3629345 [A/G] NM_002208,NM_031965 ITGAE,GSG2 EXON Silent,Missense_M706V exm1278684 17 3629444 [T/C] NM_002208,NM_031965 ITGAE,GSG2 EXON Silent,Missense_Y739H exm1278686 17 3629520 [C/G] NM_002208,NM_031965 ITGAE,GSG2 EXON Silent,Missense_T764S exm1278690 17 3631241 [A/G] NM_002208 ITGAE EXON Missense_V1019A exm1278695 17 3631431 [T/C] NM_002208 ITGAE EXON Missense_G982R exm1278703 17 3632821 [T/C] NM_002208 ITGAE EXON Missense_E955K exm1278704 17 3632836 [A/G] NM_002208 ITGAE EXON Missense_R950W exm1278706 17 3634440 [G/C] NM_002208 ITGAE EXON Missense_A931G exm1278709 17 3635679 [T/C] NM_002208 ITGAE EXON Missense_V913I exm1278711 17 3635723 [A/G] NM_002208 ITGAE EXON Missense_P898L exm1278716 17 3635740 [G/C] NM_002208 ITGAE EXON Missense_Q892H exm1278720 17 3638200 [T/C] NM_002208 ITGAE EXON Missense_I856V exm1278722 17 3643099 [T/C] NM_002208 ITGAE EXON Missense_Q841R exm1278723 17 3643109 [T/C] NM_002208 ITGAE EXON Missense_T838A exm1278727 17 3646850 [A/G] NM_002208 ITGAE EXON Missense_P794L exm1278728 17 3646872 [T/C] NM_002208 ITGAE EXON Missense_V787I exm1278729 17 3649144 [T/C] NM_002208 ITGAE EXON Missense_V745I exm1278731 17 3649162 [A/G] NM_002208 ITGAE EXON Missense_R739W exm1278740 17 3651260 [T/C] NM_002208 ITGAE EXON Missense_R704H exm1278744 17 3651297 [T/C] NM_002208 ITGAE EXON Missense_A692T exm1278747 17 3653647 [A/G] NM_002208 ITGAE EXON Missense_R675C exm1278750 17 3653668 [T/G] NM_002208 ITGAE EXON Missense_L668M exm1278760 17 3653760 [A/G] NM_002208 ITGAE EXON Missense_T637M exm1883598 17 3654974 [G/C] NM_002208 ITGAE EXON Missense_H621Q exm1278770 17 3655005 [G/C] NM_002208 ITGAE EXON Missense_S611T exm1278774 17 3655054 [T/C] NM_002208 ITGAE EXON Missense_V595M exm1278783 17 3656597 [T/C] NM_002208 ITGAE EXON Missense_R552H exm1278793 17 3657159 [T/C] NM_002208 ITGAE EXON Missense_R482Q exm1278795 17 3657175 [T/C] NM_002208 ITGAE EXON Missense_I477V exm1278818 17 3659189 [T/C] NM_002208 ITGAE EXON Missense_T392A exm1278829 17 3660397 [A/G] NM_002208 ITGAE EXON Missense_A351V exm1278831 17 3661000 [T/C] NM_002208 ITGAE EXON Synonymous_G340G exm1278833 17 3661052 [A/G] NM_002208 ITGAE EXON Missense_T323M exm1278842 17 3662829 [T/G] NM_002208 ITGAE EXON Missense_Q245K exm1278852 17 3664361 [T/C] NM_002208 ITGAE EXON Missense_K182E exm-rs220470 17 3664975 [A/G] NM_002208 ITGAE Silent exm1278874 17 3680853 [A/G] NM_002208 ITGAE EXON Missense_P46S exm1278878 17 3680953 [A/G] NM_002208 ITGAE EXON Synonymous_S12S exm1278892 17 3716416 [G/C] NM_001114118 C17orf85 EXON Missense_K595N exm1278902 17 3716522 [A/G] NM_001114118 C17orf85 EXON Missense_T560M exm1278907 17 3717684 [T/C] NM_001114118 C17orf85 EXON Missense_H520R exm1278912 17 3719442 [T/C] NM_001114118 C17orf85 EXON Missense_R478H exm1278922 17 3721704 [A/G] NM_001114118 C17orf85 EXON Missense_A388V exm1278953 17 3749411 [T/G] NM_001114118 C17orf85 EXON Missense_E36A exm2252972 17 3765508 [A/G] NM_172206,NM_032294 CAMKK1,CAMKK1 EXON Synonymous_S505S,Synonymous_S505S exm1278956 17 3765527 [T/C] NM_172206,NM_032294 CAMKK1,CAMKK1 EXON Missense_Q499R,Missense_Q499R exm1278957 17 3765531 [T/C] NM_172206,NM_032294 CAMKK1,CAMKK1 EXON Missense_V498I,Missense_V498I exm1278982 17 3775848 [T/C] NM_172206,NM_032294,NM_172207 CAMKK1,CAMKK1,CAMKK1 EXON Missense_E375G,Missense_E375G,Missense_E413G exm1279003 17 3783688 [T/C] NM_172206,NM_032294,NM_172207 CAMKK1,CAMKK1,CAMKK1 EXON Missense_E250K,Missense_E250K,Missense_E288K exm1279012 17 3785557 [A/G] NM_172206,NM_032294,NM_172207 CAMKK1,CAMKK1,CAMKK1 EXON Silent,Silent,Missense_R265C exm-rs758642 17 3786907 [A/G] NM_172206,NM_032294,NM_172207 CAMKK1,CAMKK1,CAMKK1 Silent,Silent,Silent exm1279032 17 3788648 [A/G] NM_172206,NM_032294,NM_172207 CAMKK1,CAMKK1,CAMKK1 EXON Missense_H112Y,Missense_H112Y,Missense_H112Y exm1279036 17 3788750 [A/G] NM_172206,NM_032294,NM_172207 CAMKK1,CAMKK1,CAMKK1 EXON Missense_R78W,Missense_R78W,Missense_R78W exm1279037 17 3788812 [C/G] NM_172206,NM_032294,NM_172207 CAMKK1,CAMKK1,CAMKK1 EXON Missense_S57T,Missense_S57T,Missense_S57T exm1279054 17 3801122 [T/C] NM_002558 P2RX1 EXON Missense_M396V exm1279056 17 3801166 [T/C] NM_002558 P2RX1 EXON Missense_R381H exm1279074 17 3802253 [T/C] NM_002558 P2RX1 EXON Missense_R314H exm1279075 17 3802280 [T/C] NM_002558 P2RX1 EXON Missense_R305H exm1279079 17 3803004 [T/C] NM_002558 P2RX1 EXON Missense_V267I exm1279100 17 3807286 [T/C] NM_002558 P2RX1 EXON Missense_D154N exm1279114 17 3808223 [T/C] NM_002558 P2RX1 EXON Missense_G96R exm2226259 17 3808618 [A/G] NM_002558 P2RX1 EXON Missense_L61F exm1279132 17 3819489 [T/C] NM_002558 P2RX1 EXON Missense_A11T exm1279139 17 3828697 [T/C] NM_174953,NM_005173,NM_174955,NM_174956,NM_174958,NM_174957,NM_174954 ATP2A3,ATP2A3,ATP2A3,ATP2A3,ATP2A3,ATP2A3,ATP2A3 EXON Silent,Silent,Missense_E1036G,Silent,Silent,Silent,Silent exm1279141 17 3828713 [A/C] NM_174953,NM_005173,NM_174955,NM_174956,NM_174958,NM_174957,NM_174954 ATP2A3,ATP2A3,ATP2A3,ATP2A3,ATP2A3,ATP2A3,ATP2A3 EXON Silent,Silent,Missense_A1031S,Silent,Silent,Silent,Silent exm1279144 17 3828730 [T/C] NM_174953,NM_005173,NM_174955,NM_174956,NM_174958,NM_174957,NM_174954 ATP2A3,ATP2A3,ATP2A3,ATP2A3,ATP2A3,ATP2A3,ATP2A3 EXON Missense_M1049V,Missense_M996V,Missense_N1025S,Synonymous_K1029K,Synonymous_K1029K,Missense_M995V,Synonymous_K1044K exm1279149 17 3831295 [A/G] NM_174953,NM_005173,NM_174955,NM_174956,NM_174958,NM_174957,NM_174954 ATP2A3,ATP2A3,ATP2A3,ATP2A3,ATP2A3,ATP2A3,ATP2A3 EXON Missense_L1040P,Silent,Silent,Silent,Silent,Silent,Missense_S1036P exm1279150 17 3831306 [C/G] NM_174953,NM_005173,NM_174955,NM_174956,NM_174958,NM_174957,NM_174954 ATP2A3,ATP2A3,ATP2A3,ATP2A3,ATP2A3,ATP2A3,ATP2A3 EXON Synonymous_L1036L,Silent,Silent,Silent,Silent,Silent,Missense_C1032S exm1279163 17 3832661 [T/C] NM_174953,NM_005173,NM_174955,NM_174956,NM_174958,NM_174957,NM_174954 ATP2A3,ATP2A3,ATP2A3,ATP2A3,ATP2A3,ATP2A3,ATP2A3 EXON Missense_M941I,Missense_M941I,Missense_M941I,Missense_M941I,Missense_M941I,Missense_M941I,Missense_M941I exm1279164 17 3832714 [A/G] NM_174953,NM_005173,NM_174955,NM_174956,NM_174958,NM_174957,NM_174954 ATP2A3,ATP2A3,ATP2A3,ATP2A3,ATP2A3,ATP2A3,ATP2A3 EXON Missense_R924W,Missense_R924W,Missense_R924W,Missense_R924W,Missense_R924W,Missense_R924W,Missense_R924W exm1279174 17 3833665 [T/C] NM_174953,NM_005173,NM_174955,NM_174956,NM_174958,NM_174957,NM_174954 ATP2A3,ATP2A3,ATP2A3,ATP2A3,ATP2A3,ATP2A3,ATP2A3 EXON Missense_E892K,Missense_E892K,Missense_E892K,Missense_E892K,Missense_E892K,Missense_E892K,Missense_E892K exm1279176 17 3833680 [T/C] NM_174953,NM_005173,NM_174955,NM_174956,NM_174958,NM_174957,NM_174954 ATP2A3,ATP2A3,ATP2A3,ATP2A3,ATP2A3,ATP2A3,ATP2A3 EXON Missense_D887N,Missense_D887N,Missense_D887N,Missense_D887N,Missense_D887N,Missense_D887N,Missense_D887N exm1279181 17 3833708 [T/G] NM_174953,NM_005173,NM_174955,NM_174956,NM_174958,NM_174957,NM_174954 ATP2A3,ATP2A3,ATP2A3,ATP2A3,ATP2A3,ATP2A3,ATP2A3 EXON Synonymous_S877S,Synonymous_S877S,Synonymous_S877S,Synonymous_S877S,Synonymous_S877S,Synonymous_S877S,Synonymous_S877S exm2252980 17 3833708 [T/G] NM_174953,NM_005173,NM_174955,NM_174956,NM_174958,NM_174957,NM_174954 ATP2A3,ATP2A3,ATP2A3,ATP2A3,ATP2A3,ATP2A3,ATP2A3 EXON Synonymous_S877S,Synonymous_S877S,Synonymous_S877S,Synonymous_S877S,Synonymous_S877S,Synonymous_S877S,Synonymous_S877S exm2252982 17 3840727 [A/G] NM_174953,NM_005173,NM_174955,NM_174956,NM_174958,NM_174957,NM_174954 ATP2A3,ATP2A3,ATP2A3,ATP2A3,ATP2A3,ATP2A3,ATP2A3 EXON Synonymous_N768N,Synonymous_N768N,Synonymous_N768N,Synonymous_N768N,Synonymous_N768N,Synonymous_N768N,Synonymous_N768N exm1279195 17 3840797 [T/G] NM_174953,NM_005173,NM_174955,NM_174956,NM_174958,NM_174957,NM_174954 ATP2A3,ATP2A3,ATP2A3,ATP2A3,ATP2A3,ATP2A3,ATP2A3 EXON Missense_A745D,Missense_A745D,Missense_A745D,Missense_A745D,Missense_A745D,Missense_A745D,Missense_A745D exm1279207 17 3844345 [A/G] NM_174953,NM_005173,NM_174955,NM_174956,NM_174958,NM_174957,NM_174954 ATP2A3,ATP2A3,ATP2A3,ATP2A3,ATP2A3,ATP2A3,ATP2A3 EXON Missense_R674C,Missense_R674C,Missense_R674C,Missense_R674C,Missense_R674C,Missense_R674C,Missense_R674C exm1279212 17 3844399 [A/G] NM_174953,NM_005173,NM_174955,NM_174956,NM_174958,NM_174957,NM_174954 ATP2A3,ATP2A3,ATP2A3,ATP2A3,ATP2A3,ATP2A3,ATP2A3 EXON Missense_R656C,Missense_R656C,Missense_R656C,Missense_R656C,Missense_R656C,Missense_R656C,Missense_R656C exm1279214 17 3844423 [T/C] NM_174953,NM_005173,NM_174955,NM_174956,NM_174958,NM_174957,NM_174954 ATP2A3,ATP2A3,ATP2A3,ATP2A3,ATP2A3,ATP2A3,ATP2A3 EXON Missense_V648M,Missense_V648M,Missense_V648M,Missense_V648M,Missense_V648M,Missense_V648M,Missense_V648M exm1279217 17 3844468 [T/C] NM_174953,NM_005173,NM_174955,NM_174956,NM_174958,NM_174957,NM_174954 ATP2A3,ATP2A3,ATP2A3,ATP2A3,ATP2A3,ATP2A3,ATP2A3 EXON Missense_V633M,Missense_V633M,Missense_V633M,Missense_V633M,Missense_V633M,Missense_V633M,Missense_V633M exm2252983 17 3844469 [A/G] NM_174953,NM_005173,NM_174955,NM_174956,NM_174958,NM_174957,NM_174954 ATP2A3,ATP2A3,ATP2A3,ATP2A3,ATP2A3,ATP2A3,ATP2A3 EXON Synonymous_A632A,Synonymous_A632A,Synonymous_A632A,Synonymous_A632A,Synonymous_A632A,Synonymous_A632A,Synonymous_A632A exm1279218 17 3844469 [A/G] NM_174953,NM_005173,NM_174955,NM_174956,NM_174958,NM_174957,NM_174954 ATP2A3,ATP2A3,ATP2A3,ATP2A3,ATP2A3,ATP2A3,ATP2A3 EXON Synonymous_A632A,Synonymous_A632A,Synonymous_A632A,Synonymous_A632A,Synonymous_A632A,Synonymous_A632A,Synonymous_A632A exm1279237 17 3844845 [T/C] NM_174953,NM_005173,NM_174955,NM_174956,NM_174958,NM_174957,NM_174954 ATP2A3,ATP2A3,ATP2A3,ATP2A3,ATP2A3,ATP2A3,ATP2A3 EXON Missense_R550Q,Missense_R550Q,Missense_R550Q,Missense_R550Q,Missense_R550Q,Missense_R550Q,Missense_R550Q exm1279248 17 3845931 [A/G] NM_174953,NM_005173,NM_174955,NM_174956,NM_174958,NM_174957,NM_174954 ATP2A3,ATP2A3,ATP2A3,ATP2A3,ATP2A3,ATP2A3,ATP2A3 EXON Missense_P505L,Missense_P505L,Missense_P505L,Missense_P505L,Missense_P505L,Missense_P505L,Missense_P505L exm1279249 17 3845941 [A/G] NM_174953,NM_005173,NM_174955,NM_174956,NM_174958,NM_174957,NM_174954 ATP2A3,ATP2A3,ATP2A3,ATP2A3,ATP2A3,ATP2A3,ATP2A3 EXON Missense_R502C,Missense_R502C,Missense_R502C,Missense_R502C,Missense_R502C,Missense_R502C,Missense_R502C exm1279259 17 3846732 [T/C] NM_174953,NM_005173,NM_174955,NM_174956,NM_174958,NM_174957,NM_174954 ATP2A3,ATP2A3,ATP2A3,ATP2A3,ATP2A3,ATP2A3,ATP2A3 EXON Missense_D458N,Missense_D458N,Missense_D458N,Missense_D458N,Missense_D458N,Missense_D458N,Missense_D458N exm1279309 17 3851008 [A/G] NM_174953,NM_005173,NM_174955,NM_174956,NM_174958,NM_174957,NM_174954 ATP2A3,ATP2A3,ATP2A3,ATP2A3,ATP2A3,ATP2A3,ATP2A3 EXON Missense_R258W,Missense_R258W,Missense_R258W,Missense_R258W,Missense_R258W,Missense_R258W,Missense_R258W exm1279311 17 3851029 [A/G] NM_174953,NM_005173,NM_174955,NM_174956,NM_174958,NM_174957,NM_174954 ATP2A3,ATP2A3,ATP2A3,ATP2A3,ATP2A3,ATP2A3,ATP2A3 EXON Missense_R251C,Missense_R251C,Missense_R251C,Missense_R251C,Missense_R251C,Missense_R251C,Missense_R251C exm1279327 17 3854559 [A/G] NM_174953,NM_005173,NM_174955,NM_174956,NM_174958,NM_174957,NM_174954 ATP2A3,ATP2A3,ATP2A3,ATP2A3,ATP2A3,ATP2A3,ATP2A3 EXON Missense_I150T,Missense_I150T,Missense_I150T,Missense_I150T,Missense_I150T,Missense_I150T,Missense_I150T exm1279328 17 3854578 [A/C] NM_174953,NM_005173,NM_174955,NM_174956,NM_174958,NM_174957,NM_174954 ATP2A3,ATP2A3,ATP2A3,ATP2A3,ATP2A3,ATP2A3,ATP2A3 EXON Missense_D144Y,Missense_D144Y,Missense_D144Y,Missense_D144Y,Missense_D144Y,Missense_D144Y,Missense_D144Y exm1279358 17 3912197 [C/G] NM_015113 ZZEF1 EXON Missense_L2929V exm1279360 17 3912208 [A/G] NM_015113 ZZEF1 EXON Missense_T2925M exm1279361 17 3912209 [T/C] NM_015113 ZZEF1 EXON Missense_T2925A exm1279363 17 3912242 [T/C] NM_015113 ZZEF1 EXON Missense_G2914S exm1279368 17 3912918 [T/C] NM_015113 ZZEF1 EXON Missense_V2905I exm1279389 17 3916824 [T/C] NM_015113 ZZEF1 EXON Missense_G2833D exm1279405 17 3919620 [G/C] NM_015113 ZZEF1 EXON Missense_F2714L exm1279425 17 3921012 [A/G] NM_015113 ZZEF1 EXON Missense_R2552C exm1279431 17 3921170 [A/G] NM_015113 ZZEF1 EXON Missense_A2534V exm1279434 17 3921203 [C/G] NM_015113 ZZEF1 EXON Missense_P2523R exm1279437 17 3921228 [A/G] NM_015113 ZZEF1 EXON Missense_R2515W exm1279449 17 3924509 [A/G] NM_015113 ZZEF1 EXON Missense_R2440W exm1279451 17 3924558 [A/G] NM_015113 ZZEF1 EXON Synonymous_H2423H exm2252990 17 3924558 [A/G] NM_015113 ZZEF1 EXON Synonymous_H2423H exm1279452 17 3924559 [T/G] NM_015113 ZZEF1 EXON Missense_H2423P exm1279453 17 3924566 [T/C] NM_015113 ZZEF1 EXON Missense_A2421T exm1279464 17 3926110 [G/C] NM_015113 ZZEF1 EXON Missense_E2369Q exm1279467 17 3928325 [A/G] NM_015113 ZZEF1 EXON Missense_A2327V exm1279493 17 3937495 [T/C] NM_015113 ZZEF1 EXON Missense_Y2133C exm1279502 17 3945772 [T/C] NM_015113 ZZEF1 EXON Missense_Q2086R exm1279506 17 3947533 [A/G] NM_015113 ZZEF1 EXON Missense_P2051S exm1279514 17 3947644 [T/C] NM_015113 ZZEF1 EXON Missense_I2014V exm2252993 17 3951946 [T/C] NM_015113 ZZEF1 Silent exm1279527 17 3953102 [A/G] NM_015113 ZZEF1 EXON Missense_L1972P exm1279532 17 3954087 [A/G] NM_015113 ZZEF1 EXON Missense_H1951Y exm1279537 17 3954152 [T/C] NM_015113 ZZEF1 EXON Missense_R1929H exm1279546 17 3955266 [T/C] NM_015113 ZZEF1 EXON Missense_G1867S exm2226342 17 3955287 [A/C] NM_015113 ZZEF1 EXON Missense_A1860S exm1279550 17 3955313 [A/T] NM_015113 ZZEF1 EXON Missense_D1851V exm1279556 17 3955389 [T/C] NM_015113 ZZEF1 EXON Missense_V1826I exm1279571 17 3961381 [C/G] NM_015113 ZZEF1 EXON Missense_P1691R exm1279583 17 3966140 [T/C] NM_015113 ZZEF1 EXON Missense_H1597R exm1279584 17 3966143 [T/C] NM_015113 ZZEF1 EXON Missense_Q1596R exm1279585 17 3966150 [T/C] NM_015113 ZZEF1 EXON Missense_I1594V exm1279594 17 3967797 [A/G] NM_015113 ZZEF1 EXON Missense_P1526S exm1279610 17 3967997 [T/C] NM_015113 ZZEF1 EXON Missense_R1459H exm1279613 17 3968064 [A/C] NM_015113 ZZEF1 EXON Missense_S1437A exm1279620 17 3970467 [T/C] NM_015113 ZZEF1 EXON Missense_R1382Q exm1279637 17 3975970 [A/G] NM_015113 ZZEF1 EXON Missense_H1256Y exm1886142 17 3977483 [A/G] NM_015113 ZZEF1 EXON Missense_R1216C exm1279649 17 3977620 [T/C] NM_015113 ZZEF1 EXON Missense_R1170Q exm1279666 17 3979948 [T/C] NM_015113 ZZEF1 EXON Missense_E1073K exm1886197 17 3979980 [A/G] NM_015113 ZZEF1 EXON Missense_T1062I exm1279672 17 3980170 [A/G] NM_015113 ZZEF1 EXON Missense_R1035C exm1279674 17 3980212 [T/C] NM_015113 ZZEF1 EXON Missense_I1021V exm1279685 17 3981195 [T/C] NM_015113 ZZEF1 EXON Missense_V991M exm1279692 17 3981290 [A/G] NM_015113 ZZEF1 EXON Missense_V959A exm1279702 17 3985799 [A/C] NM_015113 ZZEF1 Silent exm1279707 17 3989005 [A/G] NM_015113 ZZEF1 EXON Missense_P869S exm1279708 17 3989025 [T/C] NM_015113 ZZEF1 EXON Missense_N862S exm1279716 17 3990768 [T/A] NM_015113 ZZEF1 EXON Missense_L768M exm1279728 17 3994092 [T/C] NM_015113 ZZEF1 EXON Missense_D649G exm1279740 17 3999979 [G/C] NM_015113 ZZEF1 EXON Missense_T563S exm1279759 17 4009053 [T/C] NM_015113 ZZEF1 EXON Missense_D443G exm1886546 17 4009057 [T/C] NM_015113 ZZEF1 EXON Missense_T442A exm1279763 17 4009101 [T/C] NM_015113 ZZEF1 EXON Missense_K427R exm1279764 17 4012947 [T/C] NM_015113 ZZEF1 EXON Missense_Q426R exm1279766 17 4013033 [T/C] NM_015113 ZZEF1 EXON Missense_I397M exm1279770 17 4013157 [T/C] NM_015113 ZZEF1 EXON Missense_Y356C exm1279774 17 4015917 [T/C] NM_015113 ZZEF1 EXON Missense_N351S exm1279792 17 4017695 [T/C] NM_015113 ZZEF1 EXON Missense_Y255C exm1279796 17 4017750 [C/G] NM_015113 ZZEF1 EXON Missense_L237V exm1279801 17 4020329 [A/T] NM_015113 ZZEF1 EXON Missense_M211L exm1279803 17 4020383 [A/T] NM_015113 ZZEF1 EXON Missense_N193Y exm1279806 17 4020412 [A/G] NM_015113 ZZEF1 EXON Missense_S183L exm1279813 17 4027202 [T/G] NM_015113 ZZEF1 EXON Synonymous_P166P exm1279824 17 4045910 [T/A] NM_015113 ZZEF1 EXON Missense_S94T exm1279848 17 4047062 [A/G] NM_144611,NM_001254756,NM_001254755 CYB5D2,CYB5D2,CYB5D2 EXON Missense_G5R,Silent,Silent exm1279859 17 4047227 [T/C] NM_144611,NM_001254756,NM_001254755 CYB5D2,CYB5D2,CYB5D2 EXON Missense_L60F,Silent,Silent exm1279861 17 4047255 [A/G] NM_144611,NM_001254756,NM_001254755 CYB5D2,CYB5D2,CYB5D2 EXON Missense_G69D,Silent,Silent exm2253011 17 4057987 [T/C] NM_144611,NM_001254756,NM_001254755 CYB5D2,CYB5D2,CYB5D2 EXON Synonymous_F137F,Synonymous_F25F,Synonymous_F25F exm1279879 17 4058001 [T/G] NM_144611,NM_001254756,NM_001254755 CYB5D2,CYB5D2,CYB5D2 EXON Missense_G142V,Missense_G30V,Missense_G30V exm1279885 17 4058024 [T/C] NM_144611,NM_001254756,NM_001254755 CYB5D2,CYB5D2,CYB5D2 EXON Nonsense_Q150X,Nonsense_Q38X,Nonsense_Q38X exm1279890 17 4058094 [T/C] NM_144611,NM_001254756,NM_001254755 CYB5D2,CYB5D2,CYB5D2 EXON Missense_P173L,Missense_P61L,Missense_P61L exm1886987 17 4058111 [T/C] NM_144611,NM_001254756,NM_001254755 CYB5D2,CYB5D2,CYB5D2 EXON Missense_W179R,Missense_W67R,Missense_W67R exm1886988 17 4058153 [A/G] NM_144611,NM_001254756,NM_001254755 CYB5D2,CYB5D2,CYB5D2 EXON Missense_S193G,Missense_S81G,Missense_S81G exm1279897 17 4060227 [T/C] NM_144611,NM_001254756,NM_001254755 CYB5D2,CYB5D2,CYB5D2 EXON Missense_R216C,Missense_R104C,Missense_R104C exm1279898 17 4060233 [A/G] NM_144611,NM_001254756,NM_001254755 CYB5D2,CYB5D2,CYB5D2 EXON Missense_V218M,Missense_V106M,Missense_V106M exm1279905 17 4060345 [T/C] NM_144611,NM_001254756,NM_001254755 CYB5D2,CYB5D2,CYB5D2 EXON Missense_P255L,Missense_P143L,Missense_P143L exm1279921 17 4072571 [T/G] NM_016376,NM_001257999,NR_047571 ANKFY1,ANKFY1,ANKFY1 EXON Missense_K1101Q,Missense_K1142Q,Silent exm1279924 17 4074089 [T/C] NM_016376,NM_001257999,NR_047571 ANKFY1,ANKFY1,ANKFY1 EXON Missense_R1070H,Missense_R1111H,Silent exm1279934 17 4075852 [T/C] NM_016376,NM_001257999,NR_047571 ANKFY1,ANKFY1,ANKFY1 EXON Synonymous_T1047T,Synonymous_T1088T,Silent exm1279943 17 4076716 [T/C] NM_016376,NM_001257999,NR_047571 ANKFY1,ANKFY1,ANKFY1 EXON Missense_G984S,Missense_G1025S,Silent exm1279957 17 4082166 [T/C] NM_016376,NM_001257999,NR_047571 ANKFY1,ANKFY1,ANKFY1 EXON Missense_G863R,Missense_G904R,Silent exm1279978 17 4085567 [T/C] NM_016376,NM_001257999,NR_047571 ANKFY1,ANKFY1,ANKFY1 EXON Missense_R678Q,Missense_R719Q,Silent exm1279989 17 4087113 [A/G] NM_016376,NM_001257999,NR_047571 ANKFY1,ANKFY1,ANKFY1 EXON Missense_W598R,Missense_W640R,Silent exm1279994 17 4087193 [T/C] NM_016376,NM_001257999,NR_047571 ANKFY1,ANKFY1,ANKFY1 EXON Missense_H571R,Missense_H613R,Silent exm1279995 17 4088147 [A/C] NM_016376,NM_001257999,NR_047571 ANKFY1,ANKFY1,ANKFY1 EXON Missense_H555Q,Missense_H597Q,Silent exm1279999 17 4088208 [G/C] NM_016376,NM_001257999,NR_047571 ANKFY1,ANKFY1,ANKFY1 EXON Missense_T535S,Missense_T577S,Silent exm1280001 17 4088250 [A/G] NM_016376,NM_001257999,NR_047571 ANKFY1,ANKFY1,ANKFY1 EXON Missense_T521M,Missense_T563M,Silent exm1280009 17 4098264 [A/G] NM_016376,NM_001257999,NR_047571 ANKFY1,ANKFY1,ANKFY1 Silent,Silent,Silent exm1280024 17 4098747 [T/C] NM_016376,NM_001257999,NR_047571 ANKFY1,ANKFY1,ANKFY1 EXON Missense_I375V,Missense_I417V,Silent exm1280043 17 4111325 [T/C] NM_016376,NM_001257999,NR_047571 ANKFY1,ANKFY1,ANKFY1 EXON Missense_K212R,Missense_K254R,Silent exm1280048 17 4113150 [T/C] NM_016376,NM_001257999,NR_047571 ANKFY1,ANKFY1,ANKFY1 EXON Missense_N184S,Missense_N226S,Silent exm1280053 17 4120380 [T/C] NM_016376,NM_001257999,NR_047571 ANKFY1,ANKFY1,ANKFY1 EXON Missense_R119H,Missense_R161H,Silent exm1280056 17 4120395 [A/G] NM_016376,NM_001257999,NR_047571 ANKFY1,ANKFY1,ANKFY1 EXON Missense_T114M,Missense_T156M,Silent exm1280062 17 4139185 [A/G] NM_016376,NM_001257999,NR_047571 ANKFY1,ANKFY1,ANKFY1 EXON Synonymous_S68S,Synonymous_S110S,Silent exm1280068 17 4145721 [A/C] NM_016376,NM_001257999,NR_047571 ANKFY1,ANKFY1,ANKFY1 EXON Missense_K11N,Missense_K53N,Silent exm1280079 17 4210367 [T/C] NM_003342 UBE2G1 EXON Missense_N33S exm1889237 17 4337267 [T/C] NM_182538 SPNS3 EXON Missense_A2V exm1280083 17 4337282 [T/C] NM_182538 SPNS3 EXON Missense_A7V exm1280097 17 4342995 [A/G] NM_182538 SPNS3 EXON Missense_N81S exm1280104 17 4348380 [T/C] NM_182538 SPNS3 EXON Nonsense_R107X exm1280105 17 4348389 [T/C] NM_182538 SPNS3 EXON Missense_R110C exm1280108 17 4348459 [C/G] NM_182538 SPNS3 EXON Missense_P133R exm1280114 17 4349389 [T/C] NM_182538 SPNS3 EXON Missense_S150L exm1280119 17 4349436 [A/G] NM_182538 SPNS3 EXON Missense_V166M exm1280121 17 4349446 [A/G] NM_182538 SPNS3 EXON Missense_Q169R exm1280124 17 4349455 [A/G] NM_182538 SPNS3 EXON Missense_R172H exm1280137 17 4351510 [T/C] NM_182538 SPNS3 EXON Missense_P228S exm1280138 17 4351513 [T/C] NM_182538 SPNS3 EXON Missense_R229W exm1280140 17 4351534 [C/G] NM_182538 SPNS3 EXON Missense_G236R exm1280141 17 4351537 [A/G] NM_182538 SPNS3 EXON Missense_E237K exm1280142 17 4351543 [A/G] NM_182538 SPNS3 EXON Missense_A239T exm1280147 17 4352547 [T/C] NM_182538 SPNS3 EXON Missense_S263L exm1280149 17 4352564 [A/G] NM_182538 SPNS3 EXON Missense_A269T exm1280156 17 4352636 [A/G] NM_182538 SPNS3 EXON Missense_G293R exm1280165 17 4356366 [A/G] NM_182538 SPNS3 EXON Missense_A327T exm1280166 17 4356375 [T/G] NM_182538 SPNS3 EXON Missense_A330S exm1280171 17 4356442 [T/C] NM_182538 SPNS3 EXON Missense_T352I exm1280178 17 4381921 [A/G] NM_182538 SPNS3 EXON Missense_D390N exm1280183 17 4389551 [T/C] NM_182538 SPNS3 EXON Missense_T403M exm1280185 17 4389604 [T/C] NM_182538 SPNS3 EXON Missense_P421S exm1280192 17 4389759 [G/C] NM_182538 SPNS3 EXON Missense_R444P exm1280196 17 4389800 [A/G] NM_182538 SPNS3 EXON Missense_A458T exm1280202 17 4389857 [T/C] NM_182538 SPNS3 EXON Missense_R477W exm-rs4790200 17 4424159 [A/C] NM_001124758 SPNS2 Silent exm1889573 17 4434030 [T/C] NM_001124758 SPNS2 EXON Missense_T226M exm1280252 17 4436273 [T/C] NM_001124758 SPNS2 EXON Missense_R313C exm1280253 17 4436274 [A/G] NM_001124758 SPNS2 EXON Missense_R313H exm1280254 17 4436282 [A/G] NM_001124758 SPNS2 EXON Missense_V316I exm1280256 17 4436298 [G/C] NM_001124758 SPNS2 EXON Missense_A321G exm1280265 17 4436394 [C/G] NM_001124758 SPNS2 EXON Missense_C353S exm1280282 17 4436698 [A/G] NM_001124758 SPNS2 EXON Missense_A417T exm1280284 17 4437095 [A/G] NM_001124758 SPNS2 EXON Missense_V431I exm1280314 17 4439675 [A/G] NM_001124758 SPNS2 EXON Missense_A521T exm1280317 17 4439693 [A/G] NM_001124758 SPNS2 EXON Missense_V527I exm1280318 17 4439703 [A/G] NM_001124758 SPNS2 EXON Missense_R530H exm1280320 17 4439705 [A/G] NM_001124758 SPNS2 EXON Missense_A531T exm1280330 17 4440220 [A/G] NM_001124758 SPNS2 EXON Missense_A545T exm1280348 17 4442801 [T/C] NM_001124758,NM_001105538,NM_014520 SPNS2,MYBBP1A,MYBBP1A EXON Silent,Missense_K1299R,Missense_K1299R exm1280351 17 4442816 [A/G] NM_001124758,NM_001105538,NM_014520 SPNS2,MYBBP1A,MYBBP1A EXON Silent,Missense_A1294V,Missense_A1294V exm1280352 17 4442817 [T/C] NM_001124758,NM_001105538,NM_014520 SPNS2,MYBBP1A,MYBBP1A EXON Silent,Missense_A1294T,Missense_A1294T exm1280358 17 4442891 [A/G] NM_001124758,NM_001105538,NM_014520 SPNS2,MYBBP1A,MYBBP1A EXON Silent,Missense_T1269M,Missense_T1269M exm1280364 17 4442931 [A/G] NM_001124758,NM_001105538,NM_014520 SPNS2,MYBBP1A,MYBBP1A EXON Silent,Nonsense_Q1256X,Nonsense_Q1256X exm1280367 17 4443021 [T/C] NM_001124758,NM_001105538,NM_014520 SPNS2,MYBBP1A,MYBBP1A EXON Silent,Missense_G1226R,Missense_G1226R exm1280373 17 4443075 [A/T] NM_001124758,NM_001105538,NM_014520 SPNS2,MYBBP1A,MYBBP1A EXON Silent,Missense_M1208L,Missense_M1208L exm1280375 17 4443096 [T/C] NM_001124758,NM_001105538,NM_014520 SPNS2,MYBBP1A,MYBBP1A EXON Silent,Missense_G1201S,Missense_G1201S exm1280384 17 4443236 [G/C] NM_001105538,NM_014520 MYBBP1A,MYBBP1A EXON Missense_A1154G,Missense_A1154G exm1280385 17 4443244 [A/C] NM_001105538,NM_014520 MYBBP1A,MYBBP1A EXON Missense_K1151N,Missense_K1151N exm1280390 17 4443653 [C/G] NM_001105538,NM_014520 MYBBP1A,MYBBP1A EXON Missense_L1142V,Missense_L1142V exm1280395 17 4443688 [T/C] NM_001105538,NM_014520 MYBBP1A,MYBBP1A EXON Missense_R1130H,Missense_R1130H exm1280396 17 4443689 [A/G] NM_001105538,NM_014520 MYBBP1A,MYBBP1A EXON Missense_R1130C,Missense_R1130C exm1280398 17 4443698 [T/C] NM_001105538,NM_014520 MYBBP1A,MYBBP1A EXON Missense_G1127S,Missense_G1127S exm1280403 17 4443760 [A/G] NM_001105538,NM_014520 MYBBP1A,MYBBP1A EXON Missense_T1106M,Missense_T1106M exm1280410 17 4444850 [T/C] NM_001105538,NM_014520 MYBBP1A,MYBBP1A EXON Missense_V1069M,Missense_V1069M exm1280411 17 4444852 [T/C] NM_001105538,NM_014520 MYBBP1A,MYBBP1A EXON Missense_R1068H,Missense_R1068H exm2226550 17 4444853 [G/C] NM_001105538,NM_014520 MYBBP1A,MYBBP1A EXON Missense_R1068G,Missense_R1068G exm1280416 17 4445092 [C/G] NM_001105538,NM_014520 MYBBP1A,MYBBP1A EXON Missense_A1061G,Missense_A1061G exm1280419 17 4445140 [A/G] NM_001105538,NM_014520 MYBBP1A,MYBBP1A EXON Missense_S1045L,Missense_S1045L exm1280429 17 4445784 [A/G] NM_001105538,NM_014520 MYBBP1A,MYBBP1A EXON Missense_T1021M,Missense_T1021M exm1280432 17 4445911 [T/C] NM_001105538,NM_014520 MYBBP1A,MYBBP1A EXON Synonymous_P1006P,Synonymous_P1006P exm1280434 17 4445964 [A/G] NM_001105538,NM_014520 MYBBP1A,MYBBP1A EXON Missense_R989C,Missense_R989C exm1280437 17 4446002 [T/C] NM_001105538,NM_014520 MYBBP1A,MYBBP1A EXON Missense_R976Q,Missense_R976Q exm1280438 17 4446003 [A/G] NM_001105538,NM_014520 MYBBP1A,MYBBP1A EXON Missense_R976W,Missense_R976W exm1280439 17 4446216 [T/C] NM_001105538,NM_014520 MYBBP1A,MYBBP1A EXON Missense_G962S,Missense_G962S exm1280442 17 4446227 [T/G] NM_001105538,NM_014520 MYBBP1A,MYBBP1A EXON Missense_H958P,Missense_H958P exm1280449 17 4446324 [T/C] NM_001105538,NM_014520 MYBBP1A,MYBBP1A EXON Missense_A926T,Missense_A926T exm1280455 17 4446362 [T/C] NM_001105538,NM_014520 MYBBP1A,MYBBP1A EXON Missense_R913H,Missense_R913H exm1280463 17 4446447 [A/G] NM_001105538,NM_014520 MYBBP1A,MYBBP1A EXON Missense_R885C,Missense_R885C exm1280467 17 4447784 [A/G] NM_001105538,NM_014520 MYBBP1A,MYBBP1A EXON Missense_T880M,Missense_T880M exm1280469 17 4447794 [A/G] NM_001105538,NM_014520 MYBBP1A,MYBBP1A EXON Missense_R877C,Missense_R877C exm1280474 17 4447841 [T/C] NM_001105538,NM_014520 MYBBP1A,MYBBP1A EXON Missense_R861H,Missense_R861H exm1280475 17 4447842 [A/G] NM_001105538,NM_014520 MYBBP1A,MYBBP1A EXON Missense_R861C,Missense_R861C exm1280476 17 4447851 [A/G] NM_001105538,NM_014520 MYBBP1A,MYBBP1A EXON Missense_R858C,Missense_R858C exm1280481 17 4447895 [T/G] NM_001105538,NM_014520 MYBBP1A,MYBBP1A EXON Missense_A843D,Missense_A843D exm1280485 17 4447941 [C/G] NM_001105538,NM_014520 MYBBP1A,MYBBP1A EXON Missense_V828L,Missense_V828L exm1280490 17 4448066 [A/G] NM_001105538,NM_014520 MYBBP1A,MYBBP1A EXON Missense_R821W,Missense_R821W exm1280494 17 4448104 [T/C] NM_001105538,NM_014520 MYBBP1A,MYBBP1A EXON Missense_R808Q,Missense_R808Q exm1280495 17 4448108 [A/G] NM_001105538,NM_014520 MYBBP1A,MYBBP1A EXON Missense_R807W,Missense_R807W exm1280496 17 4448110 [A/G] NM_001105538,NM_014520 MYBBP1A,MYBBP1A EXON Missense_A806V,Missense_A806V exm2253039 17 4448324 [T/C] NM_001105538,NM_014520 MYBBP1A,MYBBP1A EXON Synonymous_A769A,Synonymous_A769A exm1280512 17 4448350 [T/G] NM_001105538,NM_014520 MYBBP1A,MYBBP1A EXON Missense_M761L,Missense_M761L exm1280517 17 4448380 [T/C] NM_001105538,NM_014520 MYBBP1A,MYBBP1A EXON Missense_D751N,Missense_D751N exm1280518 17 4448389 [T/G] NM_001105538,NM_014520 MYBBP1A,MYBBP1A EXON Missense_R748S,Missense_R748S exm1280519 17 4448397 [T/C] NM_001105538,NM_014520 MYBBP1A,MYBBP1A EXON Missense_E745G,Missense_E745G exm1280531 17 4448591 [A/G] NM_001105538,NM_014520 MYBBP1A,MYBBP1A EXON Missense_T708M,Missense_T708M exm1280532 17 4448592 [T/A] NM_001105538,NM_014520 MYBBP1A,MYBBP1A EXON Missense_T708S,Missense_T708S exm1280534 17 4448603 [T/C] NM_001105538,NM_014520 MYBBP1A,MYBBP1A EXON Missense_R704H,Missense_R704H exm1280541 17 4448924 [A/G] NM_001105538,NM_014520 MYBBP1A,MYBBP1A EXON Missense_A685V,Missense_A685V exm1280543 17 4448938 [T/G] NM_001105538,NM_014520 MYBBP1A,MYBBP1A EXON Missense_H680Q,Missense_H680Q exm1280544 17 4448940 [A/G] NM_001105538,NM_014520 MYBBP1A,MYBBP1A EXON Missense_H680Y,Missense_H680Y exm1280546 17 4448961 [T/C] NM_001105538,NM_014520 MYBBP1A,MYBBP1A EXON Missense_V673M,Missense_V673M exm1280547 17 4448967 [A/G] NM_001105538,NM_014520 MYBBP1A,MYBBP1A EXON Missense_R671W,Missense_R671W exm1280552 17 4449150 [T/C] NM_001105538,NM_014520 MYBBP1A,MYBBP1A EXON Missense_K638E,Missense_K638E exm1280554 17 4449156 [A/G] NM_001105538,NM_014520 MYBBP1A,MYBBP1A EXON Missense_R636C,Missense_R636C exm1280557 17 4449197 [A/G] NM_001105538,NM_014520 MYBBP1A,MYBBP1A EXON Missense_T622I,Missense_T622I exm1280559 17 4449228 [T/C] NM_001105538,NM_014520 MYBBP1A,MYBBP1A EXON Missense_E612K,Missense_E612K exm1280567 17 4451453 [T/C] NM_001105538,NM_014520 MYBBP1A,MYBBP1A EXON Missense_R570H,Missense_R570H exm1280569 17 4451462 [A/G] NM_001105538,NM_014520 MYBBP1A,MYBBP1A EXON Missense_A567V,Missense_A567V exm1280573 17 4451510 [A/T] NM_001105538,NM_014520 MYBBP1A,MYBBP1A EXON Missense_L551H,Missense_L551H exm1280578 17 4451576 [T/C] NM_001105538,NM_014520 MYBBP1A,MYBBP1A EXON Missense_K529R,Missense_K529R exm1280586 17 4451843 [T/C] NM_001105538,NM_014520 MYBBP1A,MYBBP1A EXON Missense_E511G,Missense_E511G exm1280589 17 4451882 [T/C] NM_001105538,NM_014520 MYBBP1A,MYBBP1A EXON Missense_K498R,Missense_K498R exm1280593 17 4452651 [T/G] NM_001105538,NM_014520 MYBBP1A,MYBBP1A EXON Missense_E469A,Missense_E469A exm1280603 17 4453435 [T/C] NM_001105538,NM_014520 MYBBP1A,MYBBP1A EXON Missense_M413V,Missense_M413V exm2274889 17 4453485 [T/C] NM_001105538,NM_014520 MYBBP1A,MYBBP1A EXON Missense_R396Q,Missense_R396Q exm1280622 17 4455189 [T/C] NM_001105538,NM_014520 MYBBP1A,MYBBP1A EXON Missense_V337M,Missense_V337M exm1280623 17 4455198 [T/C] NM_001105538,NM_014520 MYBBP1A,MYBBP1A EXON Missense_G334R,Missense_G334R exm1280626 17 4455213 [T/C] NM_001105538,NM_014520 MYBBP1A,MYBBP1A EXON Missense_V329M,Missense_V329M exm1280629 17 4455266 [T/G] NM_001105538,NM_014520 MYBBP1A,MYBBP1A EXON Missense_A311E,Missense_A311E exm1280630 17 4455278 [T/C] NM_001105538,NM_014520 MYBBP1A,MYBBP1A EXON Missense_R307H,Missense_R307H exm1889747 17 4455508 [A/G] NM_001105538,NM_014520 MYBBP1A,MYBBP1A EXON Missense_R273C,Missense_R273C exm1280645 17 4455577 [T/C] NM_001105538,NM_014520 MYBBP1A,MYBBP1A EXON Missense_V250M,Missense_V250M exm2253040 17 4455763 [T/C] NM_001105538,NM_014520 MYBBP1A,MYBBP1A EXON Synonymous_S240S,Synonymous_S240S exm1280655 17 4455873 [T/C] NM_001105538,NM_014520 MYBBP1A,MYBBP1A EXON Missense_D204N,Missense_D204N exm1280660 17 4455911 [A/G] NM_001105538,NM_014520 MYBBP1A,MYBBP1A EXON Missense_A191V,Missense_A191V exm1280665 17 4457113 [C/G] NM_001105538,NM_014520 MYBBP1A,MYBBP1A EXON Missense_L185V,Missense_L185V exm1280666 17 4457116 [T/C] NM_001105538,NM_014520 MYBBP1A,MYBBP1A EXON Missense_I184V,Missense_I184V exm1280667 17 4457134 [C/G] NM_001105538,NM_014520 MYBBP1A,MYBBP1A EXON Missense_R178G,Missense_R178G exm1280671 17 4457343 [T/C] NM_001105538,NM_014520 MYBBP1A,MYBBP1A EXON Missense_A142T,Missense_A142T exm1280672 17 4457363 [C/G] NM_001105538,NM_014520 MYBBP1A,MYBBP1A EXON Missense_A135G,Missense_A135G exm1280676 17 4457510 [G/C] NM_001105538,NM_014520 MYBBP1A,MYBBP1A EXON Missense_D120H,Missense_D120H exm1280692 17 4458515 [T/G] NM_001105538,NM_014520 MYBBP1A,MYBBP1A EXON Missense_F35L,Missense_F35L exm1889772 17 4458516 [A/G] NM_001105538,NM_014520 MYBBP1A,MYBBP1A EXON Missense_F35S,Missense_F35S exm1280697 17 4458570 [T/C] NM_001105538,NM_014520 MYBBP1A,MYBBP1A EXON Missense_Q17R,Missense_Q17R exm1280708 17 4461467 [A/G] NM_153338,NM_001122890 GGT6,GGT6 EXON Missense_P410L,Missense_P442L exm1280715 17 4461715 [A/G] NM_153338,NM_001122890 GGT6,GGT6 EXON Synonymous_S327S,Synonymous_S359S exm1280717 17 4461726 [T/C] NM_153338,NM_001122890 GGT6,GGT6 EXON Missense_V324M,Missense_V356M exm1280723 17 4461797 [A/G] NM_153338,NM_001122890 GGT6,GGT6 EXON Missense_A300V,Missense_A332V exm1280734 17 4461924 [T/C] NM_153338,NM_001122890 GGT6,GGT6 EXON Missense_V258M,Missense_V290M exm1280735 17 4461927 [A/C] NM_153338,NM_001122890 GGT6,GGT6 EXON Missense_A257S,Missense_A289S exm1280757 17 4462304 [A/G] NM_153338,NM_001122890 GGT6,GGT6 EXON Missense_T131M,Missense_T163M exm1280765 17 4462895 [T/C] NM_153338,NM_001122890 GGT6,GGT6 EXON Missense_G101S,Missense_G101S exm1280779 17 4463699 [A/G] NM_153338,NM_001122890 GGT6,GGT6 EXON Missense_R40W,Missense_R40W exm1280781 17 4463713 [A/G] NM_153338,NM_001122890 GGT6,GGT6 EXON Missense_L35P,Missense_L35P exm1280789 17 4495660 [T/C] NM_198501,NM_001114974 SMTNL2,SMTNL2 EXON Silent,Missense_L135S exm1280790 17 4495663 [A/G] NM_198501,NM_001114974 SMTNL2,SMTNL2 EXON Silent,Missense_D136G exm1280792 17 4495684 [T/C] NM_198501,NM_001114974 SMTNL2,SMTNL2 EXON Silent,Missense_S143L exm1280794 17 4495740 [A/G] NM_198501,NM_001114974 SMTNL2,SMTNL2 EXON Missense_A18T,Missense_A162T exm1280796 17 4496261 [A/C] NM_198501,NM_001114974 SMTNL2,SMTNL2 EXON Missense_F31L,Missense_F175L exm1280800 17 4496317 [A/C] NM_198501,NM_001114974 SMTNL2,SMTNL2 EXON Missense_H50P,Missense_H194P exm1280809 17 4496433 [A/G] NM_198501,NM_001114974 SMTNL2,SMTNL2 EXON Missense_E89K,Missense_E233K exm1280812 17 4496467 [T/G] NM_198501,NM_001114974 SMTNL2,SMTNL2 Silent,Silent exm1280816 17 4497137 [T/C] NM_198501,NM_001114974 SMTNL2,SMTNL2 EXON Missense_W107R,Missense_W251R exm1280818 17 4497164 [A/G] NM_198501,NM_001114974 SMTNL2,SMTNL2 EXON Missense_A116T,Missense_A260T exm1280829 17 4498523 [A/G] NM_198501,NM_001114974 SMTNL2,SMTNL2 EXON Missense_R153H,Missense_R297H exm1280830 17 4498574 [T/C] NM_198501,NM_001114974 SMTNL2,SMTNL2 EXON Missense_A170V,Missense_A314V exm2226569 17 4500190 [T/C] NM_198501,NM_001114974 SMTNL2,SMTNL2 EXON Missense_S198L,Missense_S342L exm1280844 17 4500503 [A/G] NM_198501,NM_001114974 SMTNL2,SMTNL2 EXON Missense_D238N,Missense_D382N exm1889894 17 4500596 [A/G] NM_198501,NM_001114974 SMTNL2,SMTNL2 EXON Missense_E269K,Missense_E413K exm1280850 17 4510684 [A/G] NM_198501,NM_001114974 SMTNL2,SMTNL2 EXON Missense_E286K,Missense_E430K exm2253044 17 4510761 [T/C] NM_198501,NM_001114974 SMTNL2,SMTNL2 EXON Synonymous_N311N,Synonymous_N455N exm1280856 17 4510761 [T/C] NM_198501,NM_001114974 SMTNL2,SMTNL2 EXON Synonymous_N311N,Synonymous_N455N exm1280858 17 4510772 [A/G] NM_198501,NM_001114974 SMTNL2,SMTNL2 EXON Missense_R315H,Missense_R459H exm1280859 17 4510777 [A/G] NM_198501,NM_001114974 SMTNL2,SMTNL2 EXON Missense_E317K,Missense_E461K exm2253045 17 4523167 [T/C] exm1280869 17 4535035 [A/G] NM_001140 ALOX15 EXON Missense_P617S exm1280872 17 4535186 [T/C] NM_001140 ALOX15 EXON Missense_M603V exm1280885 17 4535314 [A/G] NM_001140 ALOX15 EXON Missense_T560M exm1280886 17 4535343 [T/C] NM_001140 ALOX15 EXON Nonsense_W550X exm1280894 17 4536159 [A/G] NM_001140 ALOX15 EXON Nonsense_R513X exm1280904 17 4536463 [A/G] NM_001140 ALOX15 EXON Missense_R466W exm1280911 17 4536568 [A/G] NM_001140 ALOX15 EXON Nonsense_Q431X exm1280913 17 4536582 [A/C] NM_001140 ALOX15 EXON Missense_V426G exm1280918 17 4536747 [T/C] NM_001140 ALOX15 EXON Missense_R404G exm1280944 17 4541908 [T/C] NM_001140 ALOX15 EXON Missense_R205Q exm1280947 17 4541920 [T/C] NM_001140 ALOX15 EXON Missense_D201G exm1280950 17 4541963 [T/C] NM_001140 ALOX15 EXON Missense_I187V exm1280954 17 4542146 [T/C] NM_001140 ALOX15 EXON Missense_G181R exm1280965 17 4542725 [T/C] NM_001140 ALOX15 EXON Missense_G113S exm1280977 17 4542859 [T/C] NM_001140 ALOX15 EXON Missense_R68Q exm1280978 17 4542860 [A/G] NM_001140 ALOX15 EXON Missense_R68W exm1280986 17 4542928 [T/G] NM_001140 ALOX15 Silent exm1280990 17 4544865 [T/C] NM_001140 ALOX15 EXON Missense_G28S exm1280991 17 4544904 [A/G] NM_001140 ALOX15 EXON Missense_Y15H exm1280996 17 4574751 [A/T] NR_046388,NM_014389 PELP1,PELP1 EXON Silent,Missense_T1126S exm1280998 17 4574796 [C/G] NR_046388,NM_014389 PELP1,PELP1 EXON Silent,Missense_D1111H exm1281017 17 4575433 [A/C] NR_046388,NM_014389 PELP1,PELP1 EXON Silent,Missense_E951D exm1281029 17 4575740 [A/G] NR_046388,NM_014389 PELP1,PELP1 EXON Silent,Missense_V849A exm1281032 17 4575749 [A/G] NR_046388,NM_014389 PELP1,PELP1 EXON Silent,Missense_P846L exm1281044 17 4576094 [T/C] NR_046388,NM_014389 PELP1,PELP1 EXON Silent,Missense_R731Q exm1281056 17 4576275 [T/C] NR_046388,NM_014389 PELP1,PELP1 EXON Silent,Missense_M671V exm1281058 17 4576295 [A/G] NR_046388,NM_014389 PELP1,PELP1 EXON Silent,Missense_P664L exm1281068 17 4576961 [A/G] NR_046388,NM_014389 PELP1,PELP1 EXON Silent,Missense_R531W exm1281074 17 4577867 [A/G] NR_046388,NM_014389 PELP1,PELP1 EXON Silent,Missense_P507L exm1281100 17 4579142 [C/G] NR_046388,NM_014389 PELP1,PELP1 EXON Silent,Missense_E340Q exm1281102 17 4579160 [T/C] NR_046388,NM_014389 PELP1,PELP1 EXON Silent,Missense_V334M exm1281105 17 4579353 [A/G] NR_046388,NM_014389 PELP1,PELP1 EXON Silent,Missense_R320C exm1281116 17 4586159 [T/C] NR_046388,NM_014389 PELP1,PELP1 EXON Silent,Missense_R170Q exm1281128 17 4594230 [C/G] NR_046388,NM_014389 PELP1,PELP1 EXON Silent,Missense_Q125E exm1281135 17 4607235 [A/G] NR_046388,NM_014389 PELP1,PELP1 EXON Silent,Missense_P58S exm1281136 17 4607238 [C/G] NR_046388,NM_014389 PELP1,PELP1 EXON Silent,Missense_H57D exm1281137 17 4607253 [T/C] NR_046388,NM_014389 PELP1,PELP1 EXON Silent,Missense_A52T exm1281167 17 4619903 [A/C] NM_004313,NM_001257331,NM_199004,NM_001257330,NM_001257328,NM_001257329,NR_047516 ARRB2,ARRB2,ARRB2,ARRB2,ARRB2,ARRB2,ARRB2 EXON Synonymous_T119T,Synonymous_T104T,Synonymous_T104T,Synonymous_T119T,Synonymous_T119T,Synonymous_T119T,Silent exm1281170 17 4620512 [A/G] NM_004313,NM_001257331,NM_199004,NM_001257330,NM_001257328,NM_001257329,NR_047516 ARRB2,ARRB2,ARRB2,ARRB2,ARRB2,ARRB2,ARRB2 EXON Missense_I120V,Missense_I105V,Missense_I105V,Missense_I120V,Missense_I141V,Missense_I120V,Silent exm1281193 17 4622645 [T/C] NM_004313,NM_001257331,NM_199004,NM_001257330,NM_001257328,NM_001257329,NR_047516 ARRB2,ARRB2,ARRB2,ARRB2,ARRB2,ARRB2,ARRB2 EXON Missense_R283W,Missense_R268W,Missense_R268W,Missense_R283W,Missense_R304W,Silent,Silent exm1281216 17 4624249 [T/C] NM_004313,NM_001257331,NM_199004,NM_001257330,NM_001257328,NM_001257329,NR_047516 ARRB2,ARRB2,ARRB2,ARRB2,ARRB2,ARRB2,ARRB2 EXON Missense_T382I,Missense_T379I,Missense_T367I,Missense_T394I,Missense_T403I,Silent,Silent exm1281244 17 4638395 [T/G] NM_022059,NM_001100812 CXCL16,CXCL16 EXON Missense_S256Y,Missense_S256Y exm1890635 17 4638474 [A/G] NM_022059,NM_001100812 CXCL16,CXCL16 EXON Missense_L230F,Missense_L230F exm1281250 17 4638530 [A/G] NM_022059,NM_001100812 CXCL16,CXCL16 EXON Missense_P211L,Missense_P211L exm1281251 17 4638563 [A/G] NM_022059,NM_001100812 CXCL16,CXCL16 EXON Missense_A200V,Missense_A200V exm1281253 17 4638587 [T/G] NM_022059,NM_001100812 CXCL16,CXCL16 EXON Missense_H192P,Missense_H192P exm1281254 17 4638609 [G/C] NM_022059,NM_001100812 CXCL16,CXCL16 EXON Missense_R185G,Missense_R185G exm1281259 17 4638737 [A/G] NM_022059,NM_001100812 CXCL16,CXCL16 EXON Missense_I142T,Missense_I142T exm2274890 17 4638785 [A/G] NM_022059,NM_001100812 CXCL16,CXCL16 EXON Missense_S126L,Missense_S126L exm1281267 17 4641753 [T/C] NM_022059,NM_001100812 CXCL16,CXCL16 EXON Missense_G103D,Missense_G103D exm1281275 17 4642143 [A/G] NM_022059,NM_001100812 CXCL16,CXCL16 EXON Missense_S70L,Missense_S70L exm2226610 17 4642633 [A/G] NM_022059,NM_001100812 CXCL16,CXCL16 EXON Missense_M20T,Missense_M20T exm1281283 17 4642637 [T/C] NM_022059,NM_001100812 CXCL16,CXCL16 EXON Missense_E19K,Missense_E19K exm1281299 17 4643988 [A/G] NM_001267822,NM_001136046,NM_032265 ZMYND15,ZMYND15,ZMYND15 EXON Missense_R49G,Missense_R49G,Missense_R49G exm1281301 17 4644140 [A/C] NM_001267822,NM_001136046,NM_032265 ZMYND15,ZMYND15,ZMYND15 EXON Missense_D99E,Missense_D99E,Missense_D99E exm1281314 17 4644894 [A/G] NM_001267822,NM_001136046,NM_032265 ZMYND15,ZMYND15,ZMYND15 EXON Missense_V204I,Missense_V204I,Missense_V204I exm1281330 17 4645211 [A/G] NM_001267822,NM_001136046,NM_032265 ZMYND15,ZMYND15,ZMYND15 EXON Missense_E277K,Missense_E277K,Missense_E277K exm1281339 17 4645281 [A/G] NM_001267822,NM_001136046,NM_032265 ZMYND15,ZMYND15,ZMYND15 EXON Missense_R300Q,Missense_R300Q,Missense_R300Q exm1281340 17 4645308 [A/G] NM_001267822,NM_001136046,NM_032265 ZMYND15,ZMYND15,ZMYND15 EXON Missense_R309H,Missense_R309H,Missense_R309H exm1281345 17 4645333 [A/C] NM_001267822,NM_001136046,NM_032265 ZMYND15,ZMYND15,ZMYND15 EXON Missense_H317Q,Missense_H317Q,Missense_H317Q exm1281348 17 4645669 [T/C] NM_001267822,NM_001136046,NM_032265 ZMYND15,ZMYND15,ZMYND15 EXON Missense_R343W,Missense_R343W,Missense_R343W exm1281359 17 4646655 [A/G] NM_001267822,NM_001136046,NM_032265 ZMYND15,ZMYND15,ZMYND15 EXON Missense_R401H,Missense_R401H,Missense_R401H exm1281368 17 4646747 [A/G] NM_001267822,NM_001136046,NM_032265 ZMYND15,ZMYND15,ZMYND15 EXON Missense_G432S,Missense_G432S,Missense_G432S exm1890676 17 4647532 [A/G] NM_001267822,NM_001136046,NM_032265 ZMYND15,ZMYND15,ZMYND15 EXON Missense_V515M,Missense_V515M,Missense_V476M exm1281391 17 4647966 [A/G] NM_001267822,NM_001136046,NM_032265 ZMYND15,ZMYND15,ZMYND15 EXON Missense_R577Q,Missense_R577Q,Missense_R538Q exm1281393 17 4648039 [C/G] NM_001267822,NM_001136046,NM_032265 ZMYND15,ZMYND15,ZMYND15 EXON Missense_H601Q,Missense_H601Q,Missense_H562Q exm1281404 17 4648628 [A/G] NM_001267822,NM_001136046,NM_032265 ZMYND15,ZMYND15,ZMYND15 EXON Missense_R680H,Missense_R672H,Missense_R633H exm1281408 17 4649169 [A/G] NM_001267822,NM_001136046,NM_032265 ZMYND15,ZMYND15,ZMYND15 EXON Missense_A713T,Missense_A705T,Missense_A666T exm2226614 17 4649265 [C/G] NM_001267822,NM_001136046,NM_032265 ZMYND15,ZMYND15,ZMYND15 EXON Missense_G745R,Missense_G737R,Missense_G698R exm1281418 17 4675275 [A/G] NM_003963 TM4SF5 EXON Missense_V20I exm1281425 17 4684084 [A/G] NM_003963 TM4SF5 EXON Missense_V60I exm1281428 17 4684108 [A/G] NM_003963 TM4SF5 EXON Missense_V68I exm1281432 17 4685900 [A/G] NM_003963 TM4SF5 EXON Missense_N121D exm1281433 17 4685913 [A/G] NM_003963 TM4SF5 EXON Missense_G125D exm1281451 17 4688682 [A/G] NM_182566,NM_001144940,NM_001144941,NM_001144939 VMO1,VMO1,VMO1,VMO1 EXON Missense_A195V,Silent,Silent,Silent exm1281454 17 4688749 [T/C] NM_182566,NM_001144940,NM_001144941,NM_001144939 VMO1,VMO1,VMO1,VMO1 EXON Missense_A173T,Silent,Silent,Silent exm1281456 17 4688895 [A/G] NM_182566,NM_001144940,NM_001144941,NM_001144939 VMO1,VMO1,VMO1,VMO1 EXON Missense_S124L,Silent,Silent,Silent exm1281464 17 4689235 [T/C] NM_182566,NM_001144940,NM_001144941,NM_001144939 VMO1,VMO1,VMO1,VMO1 EXON Missense_G103E,Silent,Silent,Missense_G103E exm1281471 17 4689313 [G/C] NM_182566,NM_001144940,NM_001144941,NM_001144939 VMO1,VMO1,VMO1,VMO1 EXON Missense_T77S,Missense_T77S,Silent,Missense_T77S exm1281478 17 4689572 [T/C] NM_182566,NM_001144940,NM_001144941,NM_001144939 VMO1,VMO1,VMO1,VMO1 EXON Missense_T26A,Missense_T26A,Missense_T26A,Missense_T26A exm1281482 17 4692323 [A/G] NM_001014985 GLTPD2 EXON Missense_R6Q exm1281488 17 4692559 [T/G] NM_001014985 GLTPD2 EXON Missense_V49F exm1281490 17 4692833 [A/G] NM_001014985 GLTPD2 EXON Missense_A67T exm1281528 17 4700050 [T/G] NM_001270481,NM_002798 PSMB6,PSMB6 EXON Missense_G44W,Missense_G44W exm1281539 17 4700993 [C/G] NM_001270481,NM_002798 PSMB6,PSMB6 EXON Missense_P107A,Missense_P107A exm1281548 17 4701346 [T/C] NM_001270481,NM_002798 PSMB6,PSMB6 EXON Missense_F159L,Missense_F159L exm1281566 17 4711170 [A/G] NM_001243108,NM_002663 PLD2,PLD2 EXON Missense_D35N,Missense_D35N exm1281567 17 4711308 [T/A] NM_001243108,NM_002663 PLD2,PLD2 EXON Missense_Y47N,Missense_Y47N exm1281569 17 4711569 [A/G] NM_001243108,NM_002663 PLD2,PLD2 EXON Missense_V81M,Missense_V81M exm1281573 17 4711640 [C/G] NM_001243108,NM_002663 PLD2,PLD2 EXON Nonsense_Y104X,Nonsense_Y104X exm1281583 17 4712617 [T/C] NM_001243108,NM_002663 PLD2,PLD2 EXON Missense_R172C,Missense_R172C exm1281584 17 4712641 [T/C] NM_001243108,NM_002663 PLD2,PLD2 EXON Missense_R180C,Missense_R180C exm1281585 17 4712642 [A/G] NM_001243108,NM_002663 PLD2,PLD2 EXON Missense_R180H,Missense_R180H exm1281587 17 4712825 [T/C] NM_001243108,NM_002663 PLD2,PLD2 EXON Missense_P198L,Missense_P198L exm1281601 17 4713296 [T/C] NM_001243108,NM_002663 PLD2,PLD2 EXON Missense_H278Y,Missense_H278Y exm1281602 17 4713311 [A/G] NM_001243108,NM_002663 PLD2,PLD2 EXON Missense_D283N,Missense_D283N exm1281605 17 4714116 [A/T] NM_001243108,NM_002663 PLD2,PLD2 EXON Missense_S294C,Missense_S294C exm1281610 17 4714215 [A/G] NM_001243108,NM_002663 PLD2,PLD2 EXON Missense_A327T,Missense_A327T exm1281611 17 4714225 [A/G] NM_001243108,NM_002663 PLD2,PLD2 EXON Missense_R330Q,Missense_R330Q exm1281617 17 4717774 [T/G] NM_001243108,NM_002663 PLD2,PLD2 EXON Nonsense_E358X,Nonsense_E358X exm1281628 17 4718853 [T/C] NM_001243108,NM_002663 PLD2,PLD2 EXON Missense_A419V,Missense_A419V exm1281632 17 4719114 [T/C] NM_001243108,NM_002663 PLD2,PLD2 EXON Missense_V447A,Missense_V447A exm1281634 17 4719186 [A/G] NM_001243108,NM_002663 PLD2,PLD2 EXON Missense_R471Q,Missense_R471Q exm1281636 17 4719927 [T/C] NM_001243108,NM_002663 PLD2,PLD2 EXON Missense_R490C,Missense_R490C exm1281639 17 4720033 [T/C] NM_001243108,NM_002663 PLD2,PLD2 EXON Missense_P525L,Missense_P525L exm1281649 17 4720307 [A/G] NM_001243108,NM_002663 PLD2,PLD2 EXON Missense_R553Q,Missense_R553Q exm1281659 17 4721316 [A/G] NM_001243108,NM_002663 PLD2,PLD2 EXON Missense_R612H,Missense_R612H exm1281660 17 4721376 [A/G] NM_001243108,NM_002663 PLD2,PLD2 EXON Missense_E632G,Missense_E632G exm1281663 17 4721622 [T/C] NM_001243108,NM_002663 PLD2,PLD2 EXON Missense_R651W,Missense_R651W exm1281669 17 4721806 [T/G] NM_001243108,NM_002663 PLD2,PLD2 EXON Missense_R676L,Missense_R676L exm1281670 17 4721836 [G/C] NM_001243108,NM_002663 PLD2,PLD2 EXON Missense_G686A,Missense_G686A exm1281672 17 4721857 [C/G] NM_001243108,NM_002663 PLD2,PLD2 EXON Missense_T693R,Missense_T693R exm1281685 17 4722441 [A/G] NM_001243108,NM_002663 PLD2,PLD2 EXON Missense_G746R,Missense_G746R exm1281694 17 4722769 [A/G] NM_001243108,NM_002663 PLD2,PLD2 EXON Missense_S785N,Missense_S785N exm1281702 17 4722861 [T/C] NM_001243108,NM_002663 PLD2,PLD2 EXON Silent,Missense_R816W exm1281703 17 4722876 [A/G] NM_001243108,NM_002663 PLD2,PLD2 EXON Silent,Missense_G821S exm1281707 17 4725129 [A/G] NM_001243108,NM_002663 PLD2,PLD2 EXON Missense_R824Q,Missense_R835Q exm1281715 17 4725984 [A/G] NM_001243108,NM_002663 PLD2,PLD2 EXON Missense_R865Q,Missense_R876Q exm1281728 17 4726143 [T/G] NM_001243108,NM_002663 PLD2,PLD2 EXON Missense_L918R,Missense_L929R exm1281783 17 4794285 [T/C] NM_170663,NM_015716,NM_001024937,NM_153827 MINK1,MINK1,MINK1,MINK1 EXON Missense_P536S,Missense_P536S,Missense_P536S,Missense_P536S exm1281785 17 4794313 [T/C] NM_170663,NM_015716,NM_001024937,NM_153827 MINK1,MINK1,MINK1,MINK1 EXON Missense_T545M,Missense_T545M,Missense_T545M,Missense_T545M exm1281786 17 4794407 [C/G] NM_170663,NM_015716,NM_001024937,NM_153827 MINK1,MINK1,MINK1,MINK1 EXON Missense_E576D,Missense_E576D,Missense_E576D,Missense_E576D exm1891438 17 4794961 [A/G] NM_170663,NM_015716,NM_001024937,NM_153827 MINK1,MINK1,MINK1,MINK1 EXON Missense_S651G,Missense_S651G,Missense_S631G,Missense_S651G exm1281801 17 4795471 [A/G] NM_170663,NM_015716,NM_001024937,NM_153827 MINK1,MINK1,MINK1,MINK1 EXON Missense_T677A,Missense_T677A,Missense_T657A,Missense_T677A exm1281803 17 4795502 [A/C] NM_170663,NM_015716,NM_001024937,NM_153827 MINK1,MINK1,MINK1,MINK1 EXON Missense_S687Y,Missense_S687Y,Missense_S667Y,Missense_S687Y exm1281807 17 4795722 [A/C] NM_170663,NM_015716,NM_001024937,NM_153827 MINK1,MINK1,MINK1,MINK1 EXON Silent,Silent,Missense_I685L,Missense_I705L exm1281821 17 4796274 [T/C] NM_170663,NM_015716,NM_001024937,NM_153827 MINK1,MINK1,MINK1,MINK1 EXON Missense_V734A,Missense_V734A,Missense_V751A,Missense_V771A exm1281822 17 4796286 [T/C] NM_170663,NM_015716,NM_001024937,NM_153827 MINK1,MINK1,MINK1,MINK1 EXON Missense_P738L,Missense_P738L,Missense_P755L,Missense_P775L exm1281842 17 4796839 [C/G] NM_170663,NM_015716,NM_001024937,NM_153827 MINK1,MINK1,MINK1,MINK1 EXON Missense_E808D,Missense_E800D,Missense_E817D,Missense_E837D exm1281848 17 4797305 [A/G] NM_170663,NM_015716,NM_001024937,NM_153827 MINK1,MINK1,MINK1,MINK1 EXON Missense_V834I,Missense_V826I,Missense_V843I,Missense_V863I exm1891466 17 4797368 [A/G] NM_170663,NM_015716,NM_001024937,NM_153827 MINK1,MINK1,MINK1,MINK1 EXON Missense_G855S,Missense_G847S,Missense_G864S,Missense_G884S exm1281851 17 4797388 [T/C] NM_170663,NM_015716,NM_001024937,NM_153827 MINK1,MINK1,MINK1,MINK1 EXON Synonymous_R861R,Synonymous_R853R,Synonymous_R870R,Synonymous_R890R exm1891472 17 4797587 [T/C] NM_170663,NM_015716,NM_001024937,NM_153827 MINK1,MINK1,MINK1,MINK1 EXON Missense_S901L,Missense_S893L,Missense_S910L,Missense_S930L exm1281857 17 4797606 [T/C] NM_170663,NM_015716,NM_001024937,NM_153827 MINK1,MINK1,MINK1,MINK1 EXON Synonymous_D907D,Synonymous_D899D,Synonymous_D916D,Synonymous_D936D exm1281861 17 4797910 [A/G] NM_170663,NM_015716,NM_001024937,NM_153827 MINK1,MINK1,MINK1,MINK1 EXON Missense_D938N,Missense_D930N,Missense_D947N,Missense_D967N exm1281867 17 4798468 [A/G] NM_170663,NM_015716,NM_001024937,NM_153827 MINK1,MINK1,MINK1,MINK1 EXON Missense_S977G,Missense_S969G,Missense_S986G,Missense_S1006G exm1281933 17 4802111 [C/G] NM_000080 CHRNE EXON Missense_V468L exm1281946 17 4802540 [A/C] NM_000080 CHRNE EXON Missense_S391I exm1281974 17 4803711 [A/G] NM_000080,NM_001145536 CHRNE,C17orf107 EXON Silent,Nonsense_W152X exm1281987 17 4804290 [A/G] NM_000080,NM_001145536 CHRNE,C17orf107 EXON Missense_A266V,Silent exm2277120 17 4804377 [T/C] NM_000080,NM_001145536 CHRNE,C17orf107 EXON Missense_R237H,Silent exm1282001 17 4804840 [A/G] NM_000080,NM_001145536 CHRNE,C17orf107 EXON Missense_I194T,Silent exm1282010 17 4805239 [A/G] NM_000080,NM_001145536 CHRNE,C17orf107 EXON Missense_S163L,Silent exm1282023 17 4805777 [C/G] NM_000080,NM_001145536 CHRNE,C17orf107 EXON Missense_E68Q,Silent exm1282026 17 4806002 [A/G] NM_000080,NM_001145536 CHRNE,C17orf107 EXON Missense_Y35H,Silent exm1282028 17 4806052 [A/C] NM_000080,NM_001145536 CHRNE,C17orf107 EXON Missense_G18V,Silent exm1282031 17 4806314 [A/G] NM_000080 CHRNE EXON Synonymous_L15L exm1282036 17 4806336 [A/G] NM_000080 CHRNE EXON Missense_V8A exm1282042 17 4835895 [T/C] NM_000173 GP1BA EXON Silent exm1282045 17 4835991 [T/C] NM_000173 GP1BA EXON Missense_V31A exm1282046 17 4836005 [A/G] NM_000173 GP1BA EXON Missense_R36G exm1282050 17 4836105 [T/C] NM_000173 GP1BA EXON Missense_P69L exm1282051 17 4836114 [A/G] NM_000173 GP1BA EXON Missense_R72H exm1282062 17 4836381 [T/C] NM_000173 GP1BA EXON Missense_T161M exm1282075 17 4836753 [A/C] NM_000173 GP1BA EXON Missense_D285A exm1282077 17 4836804 [A/G] NM_000173 GP1BA EXON Missense_G302D exm1282087 17 4837070 [T/C] NM_000173 GP1BA EXON Missense_P391S exm1282096 17 4837131 [T/C] NM_000173 GP1BA EXON Missense_P411L exm1282113 17 4837266 [T/C] NM_000173 GP1BA EXON Missense_P456L exm1282115 17 4837274 [A/G] NM_000173 GP1BA EXON Missense_A459T exm1891931 17 4837803 [A/G] NM_000173 GP1BA EXON Missense_R635H exm1282149 17 4841153 [T/G] NM_001165417,NM_001165418,NM_003562 SLC25A11,SLC25A11,SLC25A11 EXON Missense_F265L,Missense_F225L,Missense_F276L exm1282195 17 4844242 [T/C] NM_015528 RNF167 EXON Missense_A13V exm1282207 17 4845756 [T/C] NM_015528 RNF167 EXON Missense_L96F exm1282214 17 4846185 [T/C] NM_015528 RNF167 EXON Missense_I140T exm1282218 17 4846217 [T/C] NM_015528 RNF167 EXON Missense_L151F exm1282228 17 4846800 [T/A] NM_015528 RNF167 EXON Missense_H219L exm1282238 17 4847927 [A/G] NM_015528 RNF167 EXON Missense_A249T exm2226680 17 4848052 [A/G] NM_015528 RNF167 EXON Missense_R265Q exm1892071 17 4848234 [G/C] NM_015528 RNF167 EXON Missense_P326A exm1282264 17 4849268 [T/C] NM_005022 PFN1 EXON Missense_E117G exm1282266 17 4849291 [T/C] NM_005022 PFN1 EXON Synonymous_T109T exm1282282 17 4855135 [A/C] NM_001193503,NM_001976,NM_053013 ENO3,ENO3,ENO3 EXON Missense_Q4P,Missense_Q4P,Missense_Q4P exm1892139 17 4855170 [G/C] NM_001193503,NM_001976,NM_053013 ENO3,ENO3,ENO3 EXON Missense_G16R,Missense_G16R,Missense_G16R exm1282287 17 4855201 [A/C] NM_001193503,NM_001976,NM_053013 ENO3,ENO3,ENO3 EXON Missense_T26K,Missense_T26K,Missense_T26K exm1282294 17 4856119 [A/G] NM_001193503,NM_001976,NM_053013 ENO3,ENO3,ENO3 EXON Missense_A39T,Missense_A39T,Missense_A39T exm1282304 17 4856373 [A/G] NM_001193503,NM_001976,NM_053013 ENO3,ENO3,ENO3 EXON Silent,Missense_N70S,Missense_N70S exm1892186 17 4856376 [A/G] NM_001193503,NM_001976,NM_053013 ENO3,ENO3,ENO3 EXON Silent,Missense_N71S,Missense_N71S exm1282305 17 4856390 [C/G] NM_001193503,NM_001976,NM_053013 ENO3,ENO3,ENO3 EXON Silent,Missense_A76P,Missense_A76P exm1282331 17 4858771 [T/C] NM_001193503,NM_001976,NM_053013 ENO3,ENO3,ENO3 EXON Missense_V203A,Missense_V246A,Missense_V246A exm1282379 17 4863328 [A/G] NM_004890 SPAG7 EXON Missense_R136W exm1282381 17 4863367 [A/G] NM_004890 SPAG7 EXON Missense_R123C exm1282385 17 4863540 [T/C] NM_004890 SPAG7 EXON Missense_I106V exm1282403 17 4872066 [C/G] NM_001171166,NM_015099,NM_001171168,NM_001171167 CAMTA2,CAMTA2,CAMTA2,CAMTA2 EXON Synonymous_P1193P,Synonymous_P1198P,Synonymous_P1197P,Missense_G1221R exm1282405 17 4872089 [C/G] NM_001171166,NM_015099,NM_001171168,NM_001171167 CAMTA2,CAMTA2,CAMTA2,CAMTA2 EXON Missense_E1186Q,Missense_E1191Q,Missense_E1190Q,Missense_G1213A exm1282407 17 4872103 [A/C] NM_001171166,NM_015099,NM_001171168,NM_001171167 CAMTA2,CAMTA2,CAMTA2,CAMTA2 EXON Missense_L1181R,Missense_L1186R,Missense_L1185R,Synonymous_T1208T exm1282427 17 4873725 [T/C] NM_001171166,NM_015099,NM_001171168,NM_001171167 CAMTA2,CAMTA2,CAMTA2,CAMTA2 EXON Missense_R974Q,Missense_R972Q,Missense_R971Q,Missense_R995Q exm1282432 17 4873773 [T/C] NM_001171166,NM_015099,NM_001171168,NM_001171167 CAMTA2,CAMTA2,CAMTA2,CAMTA2 EXON Missense_R958Q,Missense_R956Q,Missense_R955Q,Missense_R979Q exm1282438 17 4875558 [T/G] NM_001171166,NM_015099,NM_001171168,NM_001171167 CAMTA2,CAMTA2,CAMTA2,CAMTA2 EXON Missense_A928D,Missense_A926D,Missense_A925D,Missense_A949D exm1282445 17 4875628 [A/G] NM_001171166,NM_015099,NM_001171168,NM_001171167 CAMTA2,CAMTA2,CAMTA2,CAMTA2 EXON Missense_S905P,Missense_S903P,Missense_S902P,Missense_S926P exm1282446 17 4875636 [C/G] NM_001171166,NM_015099,NM_001171168,NM_001171167 CAMTA2,CAMTA2,CAMTA2,CAMTA2 EXON Missense_A902G,Missense_A900G,Missense_A899G,Missense_A923G exm1282448 17 4875691 [G/C] NM_001171166,NM_015099,NM_001171168,NM_001171167 CAMTA2,CAMTA2,CAMTA2,CAMTA2 EXON Missense_G884R,Missense_G882R,Missense_G881R,Missense_G905R exm1282462 17 4876147 [T/C] NM_001171166,NM_015099,NM_001171168,NM_001171167 CAMTA2,CAMTA2,CAMTA2,CAMTA2 EXON Missense_R809H,Missense_R807H,Missense_R806H,Missense_R830H exm1282463 17 4876148 [A/G] NM_001171166,NM_015099,NM_001171168,NM_001171167 CAMTA2,CAMTA2,CAMTA2,CAMTA2 EXON Missense_R809C,Missense_R807C,Missense_R806C,Missense_R830C exm1282478 17 4876498 [T/G] NM_001171166,NM_015099,NM_001171168,NM_001171167 CAMTA2,CAMTA2,CAMTA2,CAMTA2 EXON Missense_N753T,Missense_N751T,Missense_N750T,Missense_N774T exm1282522 17 4883331 [A/G] NM_001171166,NM_015099,NM_001171168,NM_001171167 CAMTA2,CAMTA2,CAMTA2,CAMTA2 EXON Missense_P431L,Missense_P429L,Missense_P428L,Missense_P452L exm1282530 17 4883481 [T/C] NM_001171166,NM_015099,NM_001171168,NM_001171167 CAMTA2,CAMTA2,CAMTA2,CAMTA2 EXON Missense_R381H,Missense_R379H,Missense_R378H,Missense_R402H exm1282532 17 4883518 [A/G] NM_001171166,NM_015099,NM_001171168,NM_001171167 CAMTA2,CAMTA2,CAMTA2,CAMTA2 EXON Missense_P369S,Missense_P367S,Missense_P366S,Missense_P390S exm1282533 17 4883557 [T/C] NM_001171166,NM_015099,NM_001171168,NM_001171167 CAMTA2,CAMTA2,CAMTA2,CAMTA2 EXON Missense_M356V,Missense_M354V,Missense_M353V,Missense_M377V exm1282545 17 4883818 [C/G] NM_001171166,NM_015099,NM_001171168,NM_001171167 CAMTA2,CAMTA2,CAMTA2,CAMTA2 EXON Missense_A269P,Missense_A267P,Missense_A266P,Missense_A290P exm1282558 17 4885114 [T/C] NM_001171166,NM_015099,NM_001171168,NM_001171167 CAMTA2,CAMTA2,CAMTA2,CAMTA2 EXON Missense_V144I,Missense_V142I,Missense_V141I,Missense_V165I exm1282579 17 4889562 [A/G] NM_001171166,NM_015099,NM_001171168,NM_001171167 CAMTA2,CAMTA2,CAMTA2,CAMTA2 EXON Silent,Silent,Missense_R9W,Missense_R9W exm1282592 17 4892176 [G/C] NM_001167986,NM_213726,NM_001167985,NM_001167987 INCA1,INCA1,INCA1,INCA1 EXON Missense_E153D,Missense_E138D,Missense_E138D,Missense_E153D exm1282597 17 4892741 [T/C] NM_001167986,NM_213726,NM_001167985,NM_001167987 INCA1,INCA1,INCA1,INCA1 EXON Missense_R126H,Missense_R111H,Missense_R111H,Missense_R126H exm1282598 17 4892742 [A/G] NM_001167986,NM_213726,NM_001167985,NM_001167987 INCA1,INCA1,INCA1,INCA1 EXON Missense_R126C,Missense_R111C,Missense_R111C,Missense_R126C exm1282601 17 4892784 [A/G] NM_001167986,NM_213726,NM_001167985,NM_001167987 INCA1,INCA1,INCA1,INCA1 EXON Missense_R112W,Missense_R97W,Missense_R97W,Missense_R112W exm1282609 17 4893203 [G/C] NM_001167986,NM_213726,NM_001167985,NM_001167987 INCA1,INCA1,INCA1,INCA1 EXON Missense_Q60H,Missense_Q60H,Missense_Q60H,Missense_Q60H exm1282615 17 4893464 [G/C] NM_001167986,NM_213726,NM_001167985,NM_001167987 INCA1,INCA1,INCA1,INCA1 EXON Missense_N47K,Missense_N47K,Missense_N47K,Missense_N47K exm1282619 17 4893529 [T/G] NM_001167986,NM_213726,NM_001167985,NM_001167987 INCA1,INCA1,INCA1,INCA1 EXON Missense_P26T,Missense_P26T,Missense_P26T,Missense_P26T exm1282620 17 4893532 [A/G] NM_001167986,NM_213726,NM_001167985,NM_001167987 INCA1,INCA1,INCA1,INCA1 EXON Missense_P25S,Missense_P25S,Missense_P25S,Missense_P25S exm1282628 17 4897720 [A/C] NM_001167986,NM_213726,NM_001167985,NM_001167987 INCA1,INCA1,INCA1,INCA1 EXON Missense_D5Y,Missense_D5Y,Missense_D5Y,Missense_D5Y exm2253066 17 4897721 [T/C] NM_001167986,NM_213726,NM_001167985,NM_001167987 INCA1,INCA1,INCA1,INCA1 EXON Synonymous_Q4Q,Synonymous_Q4Q,Synonymous_Q4Q,Synonymous_Q4Q exm2253067 17 4903559 [A/G] NM_006612 KIF1C EXON Synonymous_V6V exm1282633 17 4903559 [A/G] NM_006612 KIF1C EXON Synonymous_V6V exm1282666 17 4906061 [A/G] NM_006612 KIF1C EXON Missense_S215N exm1282673 17 4906118 [T/C] NM_006612 KIF1C EXON Missense_T234M exm1282676 17 4906918 [C/G] NM_006612 KIF1C EXON Missense_I244M exm1282681 17 4907294 [A/C] NM_006612 KIF1C EXON Missense_Q289P exm1282696 17 4908241 [A/G] NM_006612 KIF1C EXON Missense_A371T exm1282697 17 4908244 [T/C] NM_006612 KIF1C EXON Missense_R372W exm1282715 17 4910354 [T/C] NM_006612 KIF1C EXON Missense_P437L exm1282718 17 4910568 [A/G] NM_006612 KIF1C EXON Missense_K449R exm1282763 17 4924141 [A/G] NM_006612 KIF1C EXON Missense_E660K exm1282766 17 4925481 [T/C] NM_006612 KIF1C EXON Missense_T702I exm1282770 17 4925531 [T/C] NM_006612 KIF1C EXON Missense_R719C exm1892933 17 4926780 [T/C] NM_006612 KIF1C EXON Synonymous_N882N exm1282804 17 4926868 [T/C] NM_006612 KIF1C EXON Missense_R912W exm1892945 17 4927205 [A/G] NM_006612 KIF1C EXON Missense_R1024Q exm1282845 17 4936370 [T/G] NM_017986,NM_001104577 SLC52A1,SLC52A1 EXON Missense_A410E,Missense_A410E exm1892992 17 4936443 [C/G] NM_017986,NM_001104577 SLC52A1,SLC52A1 EXON Missense_L386V,Missense_L386V exm1282861 17 4936784 [T/C] NM_017986,NM_001104577 SLC52A1,SLC52A1 EXON Missense_V334M,Missense_V334M exm1282863 17 4936855 [T/C] NM_017986,NM_001104577 SLC52A1,SLC52A1 EXON Missense_R310H,Missense_R310H exm1282864 17 4936861 [T/C] NM_017986,NM_001104577 SLC52A1,SLC52A1 EXON Missense_Y308C,Missense_Y308C exm1282866 17 4936898 [T/C] NM_017986,NM_001104577 SLC52A1,SLC52A1 EXON Missense_V296M,Missense_V296M exm1282877 17 4937075 [A/G] NM_017986,NM_001104577 SLC52A1,SLC52A1 EXON Missense_S237P,Missense_S237P exm1282897 17 4937413 [A/G] NM_017986,NM_001104577 SLC52A1,SLC52A1 EXON Missense_A124V,Missense_A124V exm1282907 17 4937575 [T/C] NM_017986,NM_001104577 SLC52A1,SLC52A1 EXON Missense_Q70R,Missense_Q70R exm1282911 17 4937617 [A/G] NM_017986,NM_001104577 SLC52A1,SLC52A1 EXON Missense_A56V,Missense_A56V exm1282919 17 4994906 [A/G] NM_153018 ZFP3 EXON Missense_H36R exm1282924 17 4995055 [C/G] NM_153018 ZFP3 EXON Missense_R86G exm1282937 17 4995650 [A/G] NM_153018 ZFP3 EXON Missense_N284S exm1282943 17 4995754 [A/G] NM_153018 ZFP3 EXON Missense_G319R exm1282980 17 5009266 [A/C] NM_014519 ZNF232 EXON Missense_F396L exm1282988 17 5009424 [A/C] NM_014519 ZNF232 EXON Missense_S344A exm1282993 17 5009564 [A/G] NM_014519 ZNF232 EXON Missense_P297L exm1893066 17 5009583 [T/C] NM_014519 ZNF232 EXON Missense_V291I exm1283005 17 5012235 [A/G] NM_014519 ZNF232 EXON Missense_P204L exm1283015 17 5012762 [T/C] NM_014519 ZNF232 EXON Missense_H142R exm1283024 17 5012935 [A/C] NM_014519 ZNF232 EXON Missense_H84Q exm1283034 17 5013081 [T/C] NM_014519 ZNF232 EXON Missense_E36K exm1283035 17 5013095 [A/G] NM_014519 ZNF232 EXON Missense_S31L exm2260670 17 5017772 [A/G] NM_014519 ZNF232 Silent exm1283048 17 5033705 [T/C] NM_004505 USP6 EXON Missense_R15W exm1283088 17 5036249 [T/G] NM_004505 USP6 EXON Missense_M80I exm1283090 17 5036272 [A/C] NM_004505 USP6 EXON Missense_K88T exm1283113 17 5036838 [A/G] NM_004505 USP6 EXON Missense_R126K exm1283119 17 5037195 [A/G] NM_004505 USP6 EXON Missense_R133K exm1283123 17 5037254 [T/C] NM_004505 USP6 EXON Missense_R153W exm1283127 17 5037281 [T/C] NM_004505 USP6 EXON Missense_Y162H exm1283165 17 5041003 [A/G] NM_004505 USP6 EXON Missense_V295M exm1283169 17 5041454 [T/C] NM_004505 USP6 EXON Missense_R322C exm1283170 17 5041460 [T/C] NM_004505 USP6 EXON Missense_R324W exm1893148 17 5041471 [A/C] NM_004505 USP6 EXON Missense_F327L exm1283172 17 5041493 [A/G] NM_004505 USP6 EXON Missense_D335N exm1283190 17 5042573 [A/G] NM_004505 USP6 EXON Missense_A368T exm1283195 17 5042715 [A/G] NM_004505 USP6 EXON Missense_C415Y exm1283206 17 5042837 [T/C] NM_004505 USP6 EXON Missense_R456W exm1283208 17 5042847 [T/C] NM_004505 USP6 EXON Missense_T459M exm1283211 17 5042894 [T/C] NM_004505 USP6 EXON Missense_W475R exm1283217 17 5044794 [A/G] NM_004505 USP6 EXON Missense_V525I exm1893166 17 5047986 [A/G] NM_004505 USP6 EXON Missense_R607Q exm2226743 17 5049444 [A/C] NM_004505 USP6 EXON Missense_A765E exm2226744 17 5049452 [A/C] NM_004505 USP6 EXON Missense_H768N exm1283283 17 5066289 [T/C] NM_004505 USP6 EXON Missense_S1009F exm2226749 17 5066295 [A/G] NM_004505 USP6 EXON Missense_E1011G exm1283295 17 5072134 [T/C] NM_004505 USP6 EXON Missense_R1101W exm1283328 17 5074116 [A/G] NM_004505 USP6 EXON Missense_N1287S exm1283353 17 5085168 [T/C] NM_032530 ZNF594 EXON Missense_G795E exm1283402 17 5085970 [A/G] NM_032530 ZNF594 EXON Missense_R528C exm1283438 17 5086548 [T/C] NM_032530 ZNF594 EXON Missense_R335H exm1283439 17 5086549 [A/G] NM_032530 ZNF594 EXON Missense_R335C exm1283444 17 5086603 [T/G] NM_032530 ZNF594 EXON Missense_H317N exm2274892 17 5086788 [A/G] NM_032530 ZNF594 EXON Missense_I255T exm1283456 17 5086834 [A/C] NM_032530 ZNF594 EXON Missense_L240V exm1283459 17 5086864 [A/G] NM_032530 ZNF594 EXON Nonsense_Q230X exm1283464 17 5086897 [T/C] NM_032530 ZNF594 EXON Missense_A219T exm1283466 17 5086920 [T/C] NM_032530 ZNF594 EXON Missense_Y211C exm1283467 17 5086956 [A/C] NM_032530 ZNF594 EXON Missense_V199G exm1283472 17 5087040 [A/G] NM_032530 ZNF594 EXON Missense_I171T exm1283473 17 5087054 [T/G] NM_032530 ZNF594 EXON Missense_Q166H exm1283487 17 5087478 [T/C] NM_032530 ZNF594 EXON Missense_Q25R exm1283498 17 5114223 [T/G] NR_034082,NM_001271842,NM_207103 LOC100130950,SCIMP,SCIMP EXON Silent,Missense_P97H,Missense_P104H exm1283501 17 5114247 [A/G] NR_034082,NM_001271842,NM_207103 LOC100130950,SCIMP,SCIMP EXON Silent,Missense_P89L,Missense_P96L exm1893271 17 5126630 [T/C] NR_034082,NM_001271842,NM_207103 LOC100130950,SCIMP,SCIMP EXON Silent,Silent,Missense_R48Q exm2253077 17 5126674 [A/G] NR_034082,NM_001271842,NM_207103 LOC100130950,SCIMP,SCIMP EXON Silent,Synonymous_G33G,Synonymous_G33G exm1283531 17 5241350 [T/A] NM_001083585,NM_004703 RABEP1,RABEP1 EXON Missense_M189L,Missense_M189L exm2267975 17 5261220 [A/G] NM_001083585,NM_004703 RABEP1,RABEP1 Silent,Silent exm2253082 17 5264910 [T/C] NM_001083585,NM_004703 RABEP1,RABEP1 EXON Synonymous_Y501Y,Synonymous_Y501Y exm1283576 17 5271763 [C/G] NM_001083585,NM_004703 RABEP1,RABEP1 EXON Missense_M628I,Missense_M628I exm1283578 17 5276610 [T/C] NM_001083585,NM_004703 RABEP1,RABEP1 EXON Missense_A629V,Missense_A629V exm1283582 17 5276643 [A/G] NM_001083585,NM_004703 RABEP1,RABEP1 EXON Missense_E640G,Missense_E640G exm1283583 17 5276703 [T/G] NM_001083585,NM_004703 RABEP1,RABEP1 EXON Missense_V660G,Missense_V660G exm2274893 17 5286462 [T/C] NM_001083585,NM_004703 RABEP1,RABEP1 EXON Missense_R812W,Missense_R845W exm1283612 17 5289546 [A/G] NM_002532 NUP88 EXON Missense_R736C exm1283613 17 5289554 [T/C] NM_002532 NUP88 EXON Missense_N733S exm1283616 17 5290041 [T/G] NM_002532 NUP88 EXON Missense_I717L exm1283617 17 5290058 [T/C] NM_002532 NUP88 EXON Missense_R711Q exm1283627 17 5290414 [A/G] NM_002532 NUP88 EXON Missense_H645Y exm1283645 17 5291126 [T/C] NM_002532 NUP88 EXON Missense_D581G exm1283647 17 5291149 [T/G] NM_002532 NUP88 EXON Missense_R573S exm1283648 17 5291196 [G/C] NM_002532 NUP88 EXON Missense_P558A exm1283653 17 5292191 [A/G] NM_002532 NUP88 EXON Missense_T525I exm1283657 17 5292275 [A/G] NM_002532 NUP88 EXON Missense_T497I exm1283661 17 5294947 [A/G] NM_002532 NUP88 EXON Missense_P473L exm1283682 17 5308377 [T/C] NM_002532 NUP88 EXON Synonymous_T348T exm1283725 17 5319923 [A/G] NM_002532 NUP88 EXON Missense_I126T exm1283735 17 5322792 [A/G] NM_002532 NUP88 EXON Missense_V60A exm1283737 17 5322870 [T/C] NM_002532 NUP88 EXON Missense_Q34R exm1893492 17 5322946 [A/C] NM_002532 NUP88 EXON Missense_G9C exm1283742 17 5322955 [T/C] NM_002532 NUP88 EXON Missense_G6R exm1283758 17 5324787 [A/G] NM_001160266,NR_027683,NR_027682,NM_001160243,NR_027679,NR_027685,NR_027684,NM_001033002,NM_001160244,NM_001160246 RPAIN,RPAIN,RPAIN,RPAIN,RPAIN,RPAIN,RPAIN,RPAIN,RPAIN,RPAIN Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm1283761 17 5326089 [T/C] NM_001160266,NR_027683,NR_027682,NM_001160243,NR_027679,NR_027685,NR_027684,NM_001033002,NM_001160244,NM_001160246 RPAIN,RPAIN,RPAIN,RPAIN,RPAIN,RPAIN,RPAIN,RPAIN,RPAIN,RPAIN EXON Synonymous_L85L,Silent,Silent,Synonymous_L85L,Silent,Silent,Silent,Synonymous_L85L,Synonymous_L85L,Synonymous_L85L exm1283765 17 5326145 [C/G] NM_001160266,NR_027683,NR_027682,NM_001160243,NR_027679,NR_027685,NR_027684,NM_001033002,NM_001160244,NM_001160246 RPAIN,RPAIN,RPAIN,RPAIN,RPAIN,RPAIN,RPAIN,RPAIN,RPAIN,RPAIN EXON Missense_N103K,Silent,Silent,Missense_N103K,Silent,Silent,Silent,Missense_N103K,Missense_N103K,Missense_N103K exm1283769 17 5329302 [A/G] NM_001160266,NR_027683,NR_027682,NM_001160243,NR_027679,NR_027685,NR_027684,NM_001033002,NM_001160244,NM_001160246 RPAIN,RPAIN,RPAIN,RPAIN,RPAIN,RPAIN,RPAIN,RPAIN,RPAIN,RPAIN EXON Missense_I109V,Silent,Silent,Missense_I109V,Silent,Silent,Silent,Missense_I109V,Missense_I109V,Silent exm1283775 17 5329392 [T/G] NM_001160266,NR_027683,NR_027682,NM_001160243,NR_027679,NR_027685,NR_027684,NM_001033002,NM_001160244,NM_001160246 RPAIN,RPAIN,RPAIN,RPAIN,RPAIN,RPAIN,RPAIN,RPAIN,RPAIN,RPAIN EXON Missense_V139L,Silent,Silent,Missense_V139L,Silent,Silent,Silent,Missense_V139L,Missense_V139L,Silent exm1283777 17 5329575 [A/G] NM_001160266,NR_027683,NR_027682,NM_001160243,NR_027679,NR_027685,NR_027684,NM_001033002,NM_001160244,NM_001160246 RPAIN,RPAIN,RPAIN,RPAIN,RPAIN,RPAIN,RPAIN,RPAIN,RPAIN,RPAIN EXON Silent,Silent,Silent,Missense_S149G,Silent,Silent,Silent,Missense_S149G,Missense_S149G,Silent exm1283780 17 5331466 [T/C] NM_001160266,NR_027683,NR_027682,NM_001160243,NR_027679,NR_027685,NR_027684,NM_001033002,NM_001160244,NM_001160246 RPAIN,RPAIN,RPAIN,RPAIN,RPAIN,RPAIN,RPAIN,RPAIN,RPAIN,RPAIN EXON Silent,Silent,Silent,Missense_H189Y,Silent,Silent,Silent,Missense_H189Y,Silent,Silent exm1283781 17 5331467 [A/G] NM_001160266,NR_027683,NR_027682,NM_001160243,NR_027679,NR_027685,NR_027684,NM_001033002,NM_001160244,NM_001160246 RPAIN,RPAIN,RPAIN,RPAIN,RPAIN,RPAIN,RPAIN,RPAIN,RPAIN,RPAIN EXON Silent,Silent,Silent,Missense_H189R,Silent,Silent,Silent,Missense_H189R,Silent,Silent exm1283783 17 5331497 [C/G] NM_001160266,NR_027683,NR_027682,NM_001160243,NR_027679,NR_027685,NR_027684,NM_001033002,NM_001160244,NM_001160246 RPAIN,RPAIN,RPAIN,RPAIN,RPAIN,RPAIN,RPAIN,RPAIN,RPAIN,RPAIN EXON Silent,Silent,Silent,Missense_T199R,Silent,Silent,Silent,Missense_T199R,Silent,Silent exm1283798 17 5336666 [T/C] NM_001212 C1QBP EXON Missense_E216K exm1283799 17 5336724 [T/G] NM_001212 C1QBP EXON Missense_E196D exm1893529 17 5337039 [G/C] NM_001212 C1QBP EXON Missense_D176H exm1283802 17 5337047 [A/T] NM_001212 C1QBP EXON Missense_I173K exm1283807 17 5338281 [A/G] NM_001212 C1QBP EXON Missense_T130M exm1283817 17 5341585 [T/C] NM_001212 C1QBP EXON Missense_A81T exm1283831 17 5347599 [T/C] NM_001199699,NM_020162 DHX33,DHX33 EXON Missense_V511I,Missense_V684I exm1283838 17 5347703 [A/G] NM_001199699,NM_020162 DHX33,DHX33 EXON Missense_P476L,Missense_P649L exm1283840 17 5347740 [A/G] NM_001199699,NM_020162 DHX33,DHX33 EXON Missense_P464S,Missense_P637S exm1283844 17 5347788 [A/G] NM_001199699,NM_020162 DHX33,DHX33 EXON Missense_R448C,Missense_R621C exm2274894 17 5347793 [T/C] NM_001199699,NM_020162 DHX33,DHX33 EXON Missense_S446N,Missense_S619N exm1283846 17 5347801 [A/G] NM_001199699,NM_020162 DHX33,DHX33 EXON Synonymous_D443D,Synonymous_D616D exm1283848 17 5347818 [T/C] NM_001199699,NM_020162 DHX33,DHX33 EXON Missense_A438T,Missense_A611T exm1893558 17 5353627 [A/G] NM_001199699,NM_020162 DHX33,DHX33 EXON Nonsense_R369X,Nonsense_R542X exm1283868 17 5353708 [T/C] NM_001199699,NM_020162 DHX33,DHX33 EXON Missense_K342E,Missense_K515E exm1283875 17 5354204 [C/G] NM_001199699,NM_020162 DHX33,DHX33 EXON Missense_H310D,Missense_H483D exm1283880 17 5356936 [T/C] NM_001199699,NM_020162 DHX33,DHX33 EXON Missense_V281M,Missense_V454M exm2226776 17 5357154 [A/G] NM_001199699,NM_020162 DHX33,DHX33 EXON Missense_P259S,Missense_P432S exm1283881 17 5357157 [T/C] NM_001199699,NM_020162 DHX33,DHX33 EXON Missense_V258M,Missense_V431M exm1283893 17 5358483 [T/G] NM_001199699,NM_020162 DHX33,DHX33 EXON Missense_P209T,Missense_P382T exm1283906 17 5359432 [G/C] NM_001199699,NM_020162 DHX33,DHX33 EXON Missense_T134R,Missense_T307R exm1283914 17 5364353 [T/C] NM_001199699,NM_020162 DHX33,DHX33 EXON Missense_E79G,Missense_E252G exm1283919 17 5364393 [A/G] NM_001199699,NM_020162 DHX33,DHX33 EXON Missense_F66L,Missense_F239L exm1283922 17 5365716 [T/C] NM_001199699,NM_020162 DHX33,DHX33 EXON Missense_I28V,Missense_I201V exm2226779 17 5365775 [G/C] NM_001199699,NM_020162 DHX33,DHX33 EXON Nonsense_S8X,Nonsense_S181X exm1283930 17 5366947 [A/G] NM_001199699,NM_020162 DHX33,DHX33 EXON Silent,Missense_R118C exm1283933 17 5366964 [A/T] NM_001199699,NM_020162 DHX33,DHX33 EXON Silent,Missense_Y112F exm1283936 17 5371917 [T/C] NM_001199699,NM_020162 DHX33,DHX33 EXON Silent,Missense_R88Q exm1283983 17 5392243 [A/G] NM_001258220,NM_001258217,NM_001258219,NM_001258218,NM_024039 MIS12,MIS12,MIS12,MIS12,MIS12 EXON Missense_M21V,Missense_M21V,Missense_M21V,Missense_M21V,Missense_M21V exm1284001 17 5392783 [T/C] NM_001258220,NM_001258217,NM_001258219,NM_001258218,NM_024039 MIS12,MIS12,MIS12,MIS12,MIS12 EXON Nonsense_R201X,Nonsense_R201X,Nonsense_R201X,Nonsense_R201X,Nonsense_R201X exm1284008 17 5404011 [T/C] NM_001162371 LOC728392 EXON Missense_D89G exm1284017 17 5404270 [T/C] NM_001162371 LOC728392 EXON Missense_D3N exm1284026 17 5418093 [A/G] NM_001033053,NM_033007,NM_014922,NM_033004,NM_033006 NLRP1,NLRP1,NLRP1,NLRP1,NLRP1 EXON Silent,Missense_L1394P,Missense_L1424P,Missense_L1468P,Missense_L1438P exm1284032 17 5418183 [T/C] NM_001033053,NM_033007,NM_014922,NM_033004,NM_033006 NLRP1,NLRP1,NLRP1,NLRP1,NLRP1 EXON Silent,Missense_R1364Q,Missense_R1394Q,Missense_R1438Q,Missense_R1408Q exm1284040 17 5418312 [A/G] NM_001033053,NM_033007,NM_014922,NM_033004,NM_033006 NLRP1,NLRP1,NLRP1,NLRP1,NLRP1 EXON Silent,Missense_S1321L,Missense_S1351L,Missense_S1395L,Missense_S1365L exm1284043 17 5418392 [C/G] NM_001033053,NM_033007,NM_014922,NM_033004,NM_033006 NLRP1,NLRP1,NLRP1,NLRP1,NLRP1 EXON Silent,Synonymous_A1294A,Synonymous_A1324A,Synonymous_A1368A,Synonymous_A1338A exm1284063 17 5424906 [C/G] NM_001033053,NM_033007,NM_014922,NM_033004,NM_033006 NLRP1,NLRP1,NLRP1,NLRP1,NLRP1 EXON Missense_V1245L,Missense_V1211L,Missense_V1241L,Missense_V1241L,Missense_V1211L exm1284065 17 5424936 [T/C] NM_001033053,NM_033007,NM_014922,NM_033004,NM_033006 NLRP1,NLRP1,NLRP1,NLRP1,NLRP1 EXON Missense_V1235I,Missense_V1201I,Missense_V1231I,Missense_V1231I,Missense_V1201I exm1284072 17 5425076 [A/G] NM_001033053,NM_033007,NM_014922,NM_033004,NM_033006 NLRP1,NLRP1,NLRP1,NLRP1,NLRP1 EXON Missense_M1188T,Missense_M1154T,Missense_M1184T,Missense_M1184T,Missense_M1154T exm1284073 17 5425077 [T/C] NM_001033053,NM_033007,NM_014922,NM_033004,NM_033006 NLRP1,NLRP1,NLRP1,NLRP1,NLRP1 EXON Missense_M1188V,Missense_M1154V,Missense_M1184V,Missense_M1184V,Missense_M1154V exm1284074 17 5433803 [T/C] NM_001033053,NM_033007,NM_014922,NM_033004,NM_033006 NLRP1,NLRP1,NLRP1,NLRP1,NLRP1 EXON Missense_Q1177R,Missense_Q1143R,Missense_Q1173R,Missense_Q1173R,Missense_Q1143R exm1893649 17 5433834 [A/C] NM_001033053,NM_033007,NM_014922,NM_033004,NM_033006 NLRP1,NLRP1,NLRP1,NLRP1,NLRP1 EXON Missense_A1167S,Missense_A1133S,Missense_A1163S,Missense_A1163S,Missense_A1133S exm1284080 17 5436142 [T/C] NM_001033053,NM_033007,NM_014922,NM_033004,NM_033006 NLRP1,NLRP1,NLRP1,NLRP1,NLRP1 EXON Missense_R1103Q,Missense_R1069Q,Missense_R1099Q,Missense_R1099Q,Missense_R1069Q exm1284086 17 5436233 [A/G] NM_001033053,NM_033007,NM_014922,NM_033004,NM_033006 NLRP1,NLRP1,NLRP1,NLRP1,NLRP1 EXON Missense_H1073Y,Missense_H1039Y,Missense_H1069Y,Missense_H1069Y,Missense_H1039Y exm1284102 17 5437285 [A/G] NM_001033053,NM_033007,NM_014922,NM_033004,NM_033006 NLRP1,NLRP1,NLRP1,NLRP1,NLRP1 EXON Missense_T995I,Missense_T965I,Missense_T995I,Missense_T995I,Missense_T965I exm1284115 17 5442764 [C/G] NM_001033053,NM_033007,NM_014922,NM_033004,NM_033006 NLRP1,NLRP1,NLRP1,NLRP1,NLRP1 EXON Missense_R947S,Missense_R947S,Missense_R947S,Missense_R947S,Missense_R947S exm1284117 17 5442790 [T/C] NM_001033053,NM_033007,NM_014922,NM_033004,NM_033006 NLRP1,NLRP1,NLRP1,NLRP1,NLRP1 EXON Missense_V939M,Missense_V939M,Missense_V939M,Missense_V939M,Missense_V939M exm1284120 17 5442862 [T/C] NM_001033053,NM_033007,NM_014922,NM_033004,NM_033006 NLRP1,NLRP1,NLRP1,NLRP1,NLRP1 EXON Missense_A915T,Missense_A915T,Missense_A915T,Missense_A915T,Missense_A915T exm1284123 17 5445183 [T/C] NM_001033053,NM_033007,NM_014922,NM_033004,NM_033006 NLRP1,NLRP1,NLRP1,NLRP1,NLRP1 EXON Missense_R898Q,Missense_R898Q,Missense_R898Q,Missense_R898Q,Missense_R898Q exm1284127 17 5445243 [A/G] NM_001033053,NM_033007,NM_014922,NM_033004,NM_033006 NLRP1,NLRP1,NLRP1,NLRP1,NLRP1 EXON Missense_T878M,Missense_T878M,Missense_T878M,Missense_T878M,Missense_T878M exm1284128 17 5445271 [T/C] NM_001033053,NM_033007,NM_014922,NM_033004,NM_033006 NLRP1,NLRP1,NLRP1,NLRP1,NLRP1 EXON Missense_E869K,Missense_E869K,Missense_E869K,Missense_E869K,Missense_E869K exm1284134 17 5456827 [T/C] NM_001033053,NM_033007,NM_014922,NM_033004,NM_033006 NLRP1,NLRP1,NLRP1,NLRP1,NLRP1 EXON Missense_V803I,Missense_V803I,Missense_V803I,Missense_V803I,Missense_V803I exm1284139 17 5461671 [G/C] NM_001033053,NM_033007,NM_014922,NM_033004,NM_033006 NLRP1,NLRP1,NLRP1,NLRP1,NLRP1 EXON Missense_T782S,Missense_T782S,Missense_T782S,Missense_T782S,Missense_T782S exm1284140 17 5461675 [T/G] NM_001033053,NM_033007,NM_014922,NM_033004,NM_033006 NLRP1,NLRP1,NLRP1,NLRP1,NLRP1 EXON Missense_P781T,Missense_P781T,Missense_P781T,Missense_P781T,Missense_P781T exm1284151 17 5461874 [C/G] NM_001033053,NM_033007,NM_014922,NM_033004,NM_033006 NLRP1,NLRP1,NLRP1,NLRP1,NLRP1 EXON Missense_H714Q,Missense_H714Q,Missense_H714Q,Missense_H714Q,Missense_H714Q exm1284157 17 5461960 [T/C] NM_001033053,NM_033007,NM_014922,NM_033004,NM_033006 NLRP1,NLRP1,NLRP1,NLRP1,NLRP1 EXON Missense_M686V,Missense_M686V,Missense_M686V,Missense_M686V,Missense_M686V exm1284161 17 5462007 [A/G] NM_001033053,NM_033007,NM_014922,NM_033004,NM_033006 NLRP1,NLRP1,NLRP1,NLRP1,NLRP1 EXON Missense_T670I,Missense_T670I,Missense_T670I,Missense_T670I,Missense_T670I exm1284168 17 5462129 [T/G] NM_001033053,NM_033007,NM_014922,NM_033004,NM_033006 NLRP1,NLRP1,NLRP1,NLRP1,NLRP1 EXON Missense_F629L,Missense_F629L,Missense_F629L,Missense_F629L,Missense_F629L exm1284176 17 5462215 [A/T] NM_001033053,NM_033007,NM_014922,NM_033004,NM_033006 NLRP1,NLRP1,NLRP1,NLRP1,NLRP1 EXON Missense_I601F,Missense_I601F,Missense_I601F,Missense_I601F,Missense_I601F exm1284178 17 5462284 [T/C] NM_001033053,NM_033007,NM_014922,NM_033004,NM_033006 NLRP1,NLRP1,NLRP1,NLRP1,NLRP1 EXON Missense_G578S,Missense_G578S,Missense_G578S,Missense_G578S,Missense_G578S exm1284179 17 5462298 [C/G] NM_001033053,NM_033007,NM_014922,NM_033004,NM_033006 NLRP1,NLRP1,NLRP1,NLRP1,NLRP1 EXON Missense_S573C,Missense_S573C,Missense_S573C,Missense_S573C,Missense_S573C exm1284183 17 5462410 [A/G] NM_001033053,NM_033007,NM_014922,NM_033004,NM_033006 NLRP1,NLRP1,NLRP1,NLRP1,NLRP1 EXON Missense_R536W,Missense_R536W,Missense_R536W,Missense_R536W,Missense_R536W exm2226791 17 5462475 [A/C] NM_001033053,NM_033007,NM_014922,NM_033004,NM_033006 NLRP1,NLRP1,NLRP1,NLRP1,NLRP1 EXON Missense_W514L,Missense_W514L,Missense_W514L,Missense_W514L,Missense_W514L exm1284185 17 5462485 [T/C] NM_001033053,NM_033007,NM_014922,NM_033004,NM_033006 NLRP1,NLRP1,NLRP1,NLRP1,NLRP1 EXON Missense_K511E,Missense_K511E,Missense_K511E,Missense_K511E,Missense_K511E exm2226792 17 5462508 [A/G] NM_001033053,NM_033007,NM_014922,NM_033004,NM_033006 NLRP1,NLRP1,NLRP1,NLRP1,NLRP1 EXON Missense_A503V,Missense_A503V,Missense_A503V,Missense_A503V,Missense_A503V exm1284193 17 5462674 [T/C] NM_001033053,NM_033007,NM_014922,NM_033004,NM_033006 NLRP1,NLRP1,NLRP1,NLRP1,NLRP1 EXON Missense_I448V,Missense_I448V,Missense_I448V,Missense_I448V,Missense_I448V exm1284200 17 5462805 [T/C] NM_001033053,NM_033007,NM_014922,NM_033004,NM_033006 NLRP1,NLRP1,NLRP1,NLRP1,NLRP1 EXON Missense_R404Q,Missense_R404Q,Missense_R404Q,Missense_R404Q,Missense_R404Q exm1284211 17 5462913 [G/C] NM_001033053,NM_033007,NM_014922,NM_033004,NM_033006 NLRP1,NLRP1,NLRP1,NLRP1,NLRP1 EXON Missense_S368T,Missense_S368T,Missense_S368T,Missense_S368T,Missense_S368T exm1284222 17 5463093 [T/C] NM_001033053,NM_033007,NM_014922,NM_033004,NM_033006 NLRP1,NLRP1,NLRP1,NLRP1,NLRP1 EXON Missense_R308Q,Missense_R308Q,Missense_R308Q,Missense_R308Q,Missense_R308Q exm1284224 17 5463169 [A/G] NM_001033053,NM_033007,NM_014922,NM_033004,NM_033006 NLRP1,NLRP1,NLRP1,NLRP1,NLRP1 EXON Missense_L283F,Missense_L283F,Missense_L283F,Missense_L283F,Missense_L283F exm1284225 17 5463194 [A/C] NM_001033053,NM_033007,NM_014922,NM_033004,NM_033006 NLRP1,NLRP1,NLRP1,NLRP1,NLRP1 EXON Missense_F274L,Missense_F274L,Missense_F274L,Missense_F274L,Missense_F274L exm1284241 17 5485367 [T/A] NM_001033053,NM_033007,NM_014922,NM_033004,NM_033006 NLRP1,NLRP1,NLRP1,NLRP1,NLRP1 EXON Missense_L155H,Missense_L155H,Missense_L155H,Missense_L155H,Missense_L155H exm1284243 17 5485999 [A/G] NM_001033053,NM_033007,NM_014922,NM_033004,NM_033006 NLRP1,NLRP1,NLRP1,NLRP1,NLRP1 EXON Missense_R147C,Missense_R147C,Missense_R147C,Missense_R147C,Missense_R147C exm1284245 17 5486032 [T/C] NM_001033053,NM_033007,NM_014922,NM_033004,NM_033006 NLRP1,NLRP1,NLRP1,NLRP1,NLRP1 EXON Missense_V136I,Missense_V136I,Missense_V136I,Missense_V136I,Missense_V136I exm1284247 17 5486049 [T/C] NM_001033053,NM_033007,NM_014922,NM_033004,NM_033006 NLRP1,NLRP1,NLRP1,NLRP1,NLRP1 EXON Missense_Q130R,Missense_Q130R,Missense_Q130R,Missense_Q130R,Missense_Q130R exm1284253 17 5486118 [A/G] NM_001033053,NM_033007,NM_014922,NM_033004,NM_033006 NLRP1,NLRP1,NLRP1,NLRP1,NLRP1 EXON Missense_S107F,Missense_S107F,Missense_S107F,Missense_S107F,Missense_S107F exm1284262 17 5487183 [A/G] NM_001033053,NM_033007,NM_014922,NM_033004,NM_033006 NLRP1,NLRP1,NLRP1,NLRP1,NLRP1 EXON Missense_A32V,Missense_A32V,Missense_A32V,Missense_A32V,Missense_A32V exm1284266 17 5487255 [T/C] NM_001033053,NM_033007,NM_014922,NM_033004,NM_033006 NLRP1,NLRP1,NLRP1,NLRP1,NLRP1 EXON Missense_R8H,Missense_R8H,Missense_R8H,Missense_R8H,Missense_R8H exm2267976 17 5800831 [A/G] NR_040000 LOC339166 Silent exm-rs9303196 17 5907443 [T/A] exm1284271 17 5983993 [A/C] NM_015253 WSCD1 EXON Missense_F5L exm1284273 17 5984001 [T/C] NM_015253 WSCD1 EXON Missense_L8P exm1284276 17 5984019 [A/G] NM_015253 WSCD1 EXON Missense_R14Q exm1284290 17 5984226 [T/C] NM_015253 WSCD1 EXON Missense_L83P exm1284292 17 5984358 [T/C] NM_015253 WSCD1 EXON Missense_P127L exm1284298 17 5991337 [A/C] NM_015253 WSCD1 EXON Missense_D152A exm1284300 17 5991364 [T/C] NM_015253 WSCD1 EXON Missense_A161V exm1284318 17 5998430 [A/G] NM_015253 WSCD1 EXON Missense_A246T exm1284319 17 5998434 [T/C] NM_015253 WSCD1 EXON Missense_T247I exm1284325 17 5998511 [A/G] NM_015253 WSCD1 EXON Missense_V273M exm1284327 17 6012979 [T/C] NM_015253 WSCD1 EXON Missense_T301I exm1284328 17 6012984 [T/C] NM_015253 WSCD1 EXON Missense_R303W exm1284329 17 6012996 [T/C] NM_015253 WSCD1 EXON Missense_R307W exm1284338 17 6014111 [A/G] NM_015253 WSCD1 EXON Missense_R344G exm1284349 17 6021355 [A/G] NM_015253 WSCD1 EXON Missense_V408I exm1284359 17 6023659 [T/C] NM_015253 WSCD1 EXON Missense_S469L exm2226909 17 6023781 [A/G] NM_015253 WSCD1 EXON Missense_V510M exm1284379 17 6023847 [A/G] NM_015253 WSCD1 EXON Missense_G532S exm1284380 17 6023850 [T/C] NM_015253 WSCD1 EXON Missense_R533W exm1284382 17 6023856 [T/C] NM_015253 WSCD1 EXON Missense_S535P exm1284387 17 6023913 [T/C] NM_015253 WSCD1 EXON Missense_R554W exm2267977 17 6285864 [A/G] exm1284403 17 6328827 [A/G] NM_001033054,NM_014336,NM_001033055 AIPL1,AIPL1,AIPL1 EXON Missense_P307S,Missense_P370S,Missense_P310S exm1897053 17 6328845 [A/C] NM_001033054,NM_014336,NM_001033055 AIPL1,AIPL1,AIPL1 EXON Missense_A301S,Missense_A364S,Missense_A304S exm1284406 17 6328964 [A/C] NM_001033054,NM_014336,NM_001033055 AIPL1,AIPL1,AIPL1 EXON Missense_R261L,Missense_R324L,Missense_R264L exm1284408 17 6328997 [A/G] NM_001033054,NM_014336,NM_001033055 AIPL1,AIPL1,AIPL1 EXON Missense_A250V,Missense_A313V,Missense_A253V exm1284413 17 6329030 [A/C] NM_001033054,NM_014336,NM_001033055 AIPL1,AIPL1,AIPL1 EXON Missense_R239L,Missense_R302L,Missense_R242L exm1284416 17 6329081 [T/G] NM_001033054,NM_014336,NM_001033055 AIPL1,AIPL1,AIPL1 EXON Missense_A222E,Missense_A285E,Missense_A225E exm1284417 17 6329082 [T/C] NM_001033054,NM_014336,NM_001033055 AIPL1,AIPL1,AIPL1 EXON Missense_A222T,Missense_A285T,Missense_A225T exm1284418 17 6329101 [T/C] NM_001033054,NM_014336,NM_001033055 AIPL1,AIPL1,AIPL1 EXON Nonsense_W215X,Nonsense_W278X,Nonsense_W218X exm1284429 17 6329982 [T/G] NM_001033054,NM_014336,NM_001033055 AIPL1,AIPL1,AIPL1 EXON Missense_Y183S,Missense_Y246S,Missense_Y186S exm1284451 17 6331702 [T/A] NM_001033054,NM_014336,NM_001033055 AIPL1,AIPL1,AIPL1 EXON Silent,Missense_Y134F,Missense_Y74F exm1284452 17 6331720 [A/G] NM_001033054,NM_014336,NM_001033055 AIPL1,AIPL1,AIPL1 EXON Silent,Missense_A128V,Missense_A68V exm1284457 17 6331744 [A/G] NM_001033054,NM_014336,NM_001033055 AIPL1,AIPL1,AIPL1 EXON Silent,Missense_T120M,Missense_T60M exm1284459 17 6331762 [A/G] NM_001033054,NM_014336,NM_001033055 AIPL1,AIPL1,AIPL1 EXON Silent,Missense_T114I,Missense_T54I exm1284460 17 6331780 [A/G] NM_001033054,NM_014336,NM_001033055 AIPL1,AIPL1,AIPL1 EXON Silent,Missense_A108V,Missense_A48V exm1284467 17 6331828 [T/C] NM_001033054,NM_014336,NM_001033055 AIPL1,AIPL1,AIPL1 Silent,Silent,Silent exm1284473 17 6337271 [A/G] NM_001033054,NM_014336,NM_001033055 AIPL1,AIPL1,AIPL1 EXON Missense_H82Y,Missense_H82Y,Silent exm1284485 17 6337375 [C/G] NM_001033054,NM_014336,NM_001033055 AIPL1,AIPL1,AIPL1 EXON Missense_T47R,Missense_T47R,Silent exm1284491 17 6337417 [A/G] NM_001033054,NM_014336,NM_001033055 AIPL1,AIPL1,AIPL1 EXON Missense_V33A,Missense_V33A,Silent exm1284535 17 6351015 [A/G] NM_019013,NM_001195228 FAM64A,FAM64A EXON Missense_R176Q,Missense_R176Q exm1897112 17 6352633 [A/G] NM_019013,NM_001195228 FAM64A,FAM64A EXON Missense_E198K,Missense_E198K exm1284545 17 6353702 [A/G] NM_019013,NM_001195228 FAM64A,FAM64A EXON Silent,Missense_R236H exm2253144 17 6353739 [A/G] NM_019013,NM_001195228 FAM64A,FAM64A EXON Silent,Synonymous_P248P exm1284597 17 6367539 [A/G] NM_031220,NM_001165966 PITPNM3,PITPNM3 EXON Missense_R703W,Missense_R667W exm1284611 17 6371655 [A/G] NM_031220,NM_001165966 PITPNM3,PITPNM3 EXON Missense_R594C,Missense_R558C exm1284615 17 6373665 [A/G] NM_031220,NM_001165966 PITPNM3,PITPNM3 EXON Missense_T563M,Missense_T527M exm1284621 17 6374483 [T/C] NM_031220,NM_001165966 PITPNM3,PITPNM3 EXON Missense_R541H,Missense_R505H exm1284626 17 6374564 [A/G] NM_031220,NM_001165966 PITPNM3,PITPNM3 EXON Missense_P514L,Missense_P478L exm1284630 17 6374628 [A/G] NM_031220,NM_001165966 PITPNM3,PITPNM3 EXON Missense_R493W,Missense_R457W exm1284659 17 6380520 [A/G] NM_031220,NM_001165966 PITPNM3,PITPNM3 EXON Missense_A305V,Missense_A269V exm1284669 17 6381357 [T/C] NM_031220,NM_001165966 PITPNM3,PITPNM3 EXON Missense_A280T,Missense_A244T exm1284676 17 6386883 [T/C] NM_031220,NM_001165966 PITPNM3,PITPNM3 EXON Missense_V181I,Missense_V145I exm1284678 17 6386924 [T/G] NM_031220,NM_001165966 PITPNM3,PITPNM3 EXON Missense_A167D,Missense_A131D exm1284679 17 6386946 [T/C] NM_031220,NM_001165966 PITPNM3,PITPNM3 EXON Missense_V160M,Missense_V124M exm1284690 17 6387600 [T/C] NM_031220,NM_001165966 PITPNM3,PITPNM3 EXON Missense_R96Q,Missense_R60Q exm1897256 17 6387601 [A/G] NM_031220,NM_001165966 PITPNM3,PITPNM3 EXON Missense_R96W,Missense_R60W exm1284695 17 6406883 [T/C] NM_031220,NM_001165966 PITPNM3,PITPNM3 EXON Missense_A80T,Missense_A44T exm1284702 17 6428718 [T/C] NM_031220,NM_001165966 PITPNM3,PITPNM3 EXON Missense_V62M,Silent exm1284705 17 6441376 [A/G] NM_031220,NM_001165966 PITPNM3,PITPNM3 EXON Missense_P17S,Missense_P17S exm1284715 17 6493107 [T/C] NM_014804 KIAA0753 EXON Missense_I926M exm1284719 17 6493120 [T/C] NM_014804 KIAA0753 EXON Missense_N922S exm1284723 17 6493198 [T/C] NM_014804 KIAA0753 EXON Missense_Q896R exm1284724 17 6493199 [A/G] NM_014804 KIAA0753 EXON Nonsense_Q896X exm1284725 17 6493207 [G/C] NM_014804 KIAA0753 EXON Missense_P893R exm2253149 17 6493209 [T/G] NM_014804 KIAA0753 EXON Synonymous_P892P exm1284728 17 6493228 [T/C] NM_014804 KIAA0753 EXON Missense_R886Q exm1284736 17 6498301 [T/C] NM_014804 KIAA0753 EXON Missense_E811K exm1284741 17 6499498 [A/G] NM_014804 KIAA0753 EXON Missense_R780C exm1284744 17 6499540 [T/C] NM_014804 KIAA0753 EXON Missense_V766I exm1284746 17 6499629 [T/C] NM_014804 KIAA0753 EXON Missense_R736H exm1284748 17 6502613 [T/C] NM_014804 KIAA0753 EXON Missense_I706V exm1284755 17 6511741 [T/C] NM_014804 KIAA0753 EXON Missense_K586E exm2253151 17 6511781 [A/G] NM_014804 KIAA0753 EXON Synonymous_A572A exm1284757 17 6511781 [A/G] NM_014804 KIAA0753 EXON Synonymous_A572A exm1284758 17 6513329 [A/G] NM_014804 KIAA0753 EXON Missense_P566L exm1284767 17 6515283 [T/C] NM_014804 KIAA0753 EXON Missense_V501M exm1284774 17 6515387 [A/G] NM_014804 KIAA0753 EXON Missense_L466P exm1284777 17 6515441 [A/G] NM_014804 KIAA0753 EXON Missense_P448L exm1284778 17 6515450 [A/G] NM_014804 KIAA0753 EXON Missense_T445M exm1284780 17 6515454 [T/C] NM_014804 KIAA0753 EXON Missense_D444N exm1284785 17 6524137 [T/C] NM_014804 KIAA0753 EXON Missense_R429Q exm1284786 17 6524149 [T/C] NM_014804 KIAA0753 EXON Missense_Q425R exm1284789 17 6524225 [T/C] NM_014804 KIAA0753 EXON Missense_K400E exm1284792 17 6524298 [A/T] NM_014804 KIAA0753 EXON Missense_E375D exm1284796 17 6524317 [C/G] NM_014804 KIAA0753 EXON Missense_A369G exm1284814 17 6528146 [A/G] NM_014804 KIAA0753 EXON Missense_R252C exm1284818 17 6531500 [T/C] NM_014804 KIAA0753 EXON Missense_V219I exm1284819 17 6531533 [T/C] NM_014804 KIAA0753 EXON Missense_K208E exm1284820 17 6531541 [T/C] NM_014804 KIAA0753 EXON Missense_G205D exm1284821 17 6531552 [A/C] NM_014804 KIAA0753 EXON Missense_H201Q exm1284834 17 6531919 [A/G] NM_014804 KIAA0753 EXON Missense_V79A exm1284835 17 6531953 [T/C] NM_014804 KIAA0753 EXON Missense_E68K exm1284838 17 6532007 [A/G] NM_014804 KIAA0753 EXON Nonsense_R50X exm1284839 17 6532012 [A/G] NM_014804 KIAA0753 EXON Missense_A48V exm1284842 17 6532058 [C/G] NM_014804 KIAA0753 EXON Missense_Q33E exm1284851 17 6544413 [T/A] NM_032731 TXNDC17 EXON Missense_Y4F exm1284852 17 6544421 [A/G] NM_032731 TXNDC17 EXON Missense_V7M exm1284855 17 6544470 [A/G] NM_032731 TXNDC17 EXON Missense_N23S exm1284856 17 6544477 [C/G] NM_032731 TXNDC17 EXON Missense_K25N exm1284891 17 6555346 [C/G] NM_001105520 C17orf100 EXON Missense_S38C exm1284894 17 6555400 [T/C] NM_001105520 C17orf100 EXON Missense_S56L exm1284902 17 6555534 [A/G] NM_001105520 C17orf100 EXON Missense_S101G exm1284920 17 6594169 [T/C] NM_177550,NM_001143838 SLC13A5,SLC13A5 EXON Missense_V456I,Missense_V456I exm2227032 17 6599063 [A/C] NM_177550,NM_001143838 SLC13A5,SLC13A5 EXON Missense_W346L,Missense_W346L exm1284956 17 6604410 [A/G] NM_177550,NM_001143838 SLC13A5,SLC13A5 EXON Missense_A251V,Missense_A251V exm2227035 17 6606331 [A/G] NM_177550,NM_001143838 SLC13A5,SLC13A5 EXON Missense_T225I,Missense_T225I exm1284964 17 6606341 [A/C] NM_177550,NM_001143838 SLC13A5,SLC13A5 EXON Missense_A222S,Missense_A222S exm1284967 17 6606350 [T/C] NM_177550,NM_001143838 SLC13A5,SLC13A5 EXON Missense_G219R,Missense_G219R exm2227036 17 6606393 [A/C] NM_177550,NM_001143838 SLC13A5,SLC13A5 EXON Missense_L204F,Missense_L204F exm1284974 17 6607239 [T/C] NM_177550,NM_001143838 SLC13A5,SLC13A5 EXON Missense_G169S,Missense_G169S exm1284980 17 6607353 [T/C] NM_177550,NM_001143838 SLC13A5,SLC13A5 EXON Missense_V131I,Missense_V131I exm1284985 17 6609969 [A/C] NM_177550,NM_001143838 SLC13A5,SLC13A5 EXON Missense_K120N,Missense_K120N exm1285004 17 6616649 [T/C] NM_177550,NM_001143838 SLC13A5,SLC13A5 EXON Missense_A2T,Missense_A2T exm1285018 17 6661410 [A/G] NM_199139,NR_046398,NR_046397,NM_017523,NR_046396 XAF1,XAF1,XAF1,XAF1,XAF1 EXON Missense_K12R,Silent,Silent,Missense_K12R,Silent exm1285020 17 6661442 [T/C] NM_199139,NR_046398,NR_046397,NM_017523,NR_046396 XAF1,XAF1,XAF1,XAF1,XAF1 EXON Missense_H23Y,Silent,Silent,Missense_H23Y,Silent exm1285027 17 6663018 [A/C] NM_199139,NR_046398,NR_046397,NM_017523,NR_046396 XAF1,XAF1,XAF1,XAF1,XAF1 EXON Silent,Silent,Silent,Missense_S69Y,Silent exm1285031 17 6663729 [A/G] NM_199139,NR_046398,NR_046397,NM_017523,NR_046396 XAF1,XAF1,XAF1,XAF1,XAF1 EXON Missense_N58S,Silent,Silent,Missense_N77S,Silent exm1285033 17 6663753 [A/G] NM_199139,NR_046398,NR_046397,NM_017523,NR_046396 XAF1,XAF1,XAF1,XAF1,XAF1 EXON Missense_E66G,Silent,Silent,Missense_E85G,Silent exm1285038 17 6663822 [A/G] NM_199139,NR_046398,NR_046397,NM_017523,NR_046396 XAF1,XAF1,XAF1,XAF1,XAF1 EXON Missense_R89Q,Silent,Silent,Missense_R108Q,Silent exm1285041 17 6663867 [T/C] NM_199139,NR_046398,NR_046397,NM_017523,NR_046396 XAF1,XAF1,XAF1,XAF1,XAF1 EXON Missense_M104T,Silent,Silent,Missense_M123T,Silent exm1285046 17 6663899 [T/G] NM_199139,NR_046398,NR_046397,NM_017523,NR_046396 XAF1,XAF1,XAF1,XAF1,XAF1 EXON Nonsense_E115X,Silent,Silent,Nonsense_E134X,Silent exm1285048 17 6663914 [A/G] NM_199139,NR_046398,NR_046397,NM_017523,NR_046396 XAF1,XAF1,XAF1,XAF1,XAF1 EXON Missense_G120R,Silent,Silent,Missense_G139R,Silent exm1285052 17 6665509 [T/C] NM_199139,NR_046398,NR_046397,NM_017523,NR_046396 XAF1,XAF1,XAF1,XAF1,XAF1 EXON Missense_C134R,Silent,Silent,Missense_C153R,Silent exm1898076 17 6673996 [A/G] NM_199139,NR_046398,NR_046397,NM_017523,NR_046396 XAF1,XAF1,XAF1,XAF1,XAF1 EXON Missense_H162R,Silent,Silent,Missense_H181R,Silent exm1285058 17 6674016 [A/G] NM_199139,NR_046398,NR_046397,NM_017523,NR_046396 XAF1,XAF1,XAF1,XAF1,XAF1 EXON Missense_E169K,Silent,Silent,Missense_E188K,Silent exm1285067 17 6676442 [A/G] NM_199139,NR_046398,NR_046397,NM_017523,NR_046396 XAF1,XAF1,XAF1,XAF1,XAF1 EXON Missense_R268Q,Silent,Silent,Missense_R287Q,Silent exm1285071 17 6683191 [A/G] NM_153230 FBXO39 EXON Missense_D2N exm1285072 17 6683193 [A/C] NM_153230 FBXO39 EXON Missense_D2E exm1285074 17 6683204 [A/G] NM_153230 FBXO39 EXON Missense_E6G exm1285075 17 6683209 [T/A] NM_153230 FBXO39 EXON Missense_I8F exm1285076 17 6683215 [T/C] NM_153230 FBXO39 EXON Missense_P10S exm1285077 17 6683248 [A/G] NM_153230 FBXO39 EXON Missense_D21N exm1285079 17 6683264 [A/G] NM_153230 FBXO39 EXON Missense_R26H exm1285085 17 6683447 [A/G] NM_153230 FBXO39 EXON Missense_R87H exm1285091 17 6683561 [A/G] NM_153230 FBXO39 EXON Missense_R125H exm1285092 17 6683599 [T/C] NM_153230 FBXO39 EXON Missense_R138C exm1285094 17 6683651 [T/G] NM_153230 FBXO39 EXON Missense_F155C exm1285098 17 6683684 [A/G] NM_153230 FBXO39 EXON Missense_Y166C exm1285104 17 6683848 [A/T] NM_153230 FBXO39 EXON Missense_S221T exm1285106 17 6683878 [T/C] NM_153230 FBXO39 EXON Missense_L231F exm1285109 17 6683942 [A/G] NM_153230 FBXO39 EXON Missense_R252Q exm1285113 17 6683965 [A/G] NM_153230 FBXO39 EXON Missense_V260I exm1285118 17 6684022 [G/C] NM_153230 FBXO39 EXON Missense_Q279E exm1285119 17 6684053 [T/C] NM_153230 FBXO39 EXON Missense_F289S exm1285121 17 6684068 [A/G] NM_153230 FBXO39 EXON Missense_K294R exm1285124 17 6684170 [T/C] NM_153230 FBXO39 EXON Missense_T328I exm1285126 17 6684196 [T/C] NM_153230 FBXO39 EXON Missense_R337W exm1285155 17 6703447 [T/C] NM_053285 TEKT1 EXON Missense_D386N exm1285160 17 6704121 [T/C] NM_053285 TEKT1 EXON Missense_V332I exm1285164 17 6704171 [A/G] NM_053285 TEKT1 EXON Missense_T315M exm1285165 17 6704182 [A/C] NM_053285 TEKT1 EXON Missense_K311N exm2253161 17 6715722 [A/G] NM_053285 TEKT1 Silent exm1285169 17 6716184 [T/C] NM_053285 TEKT1 EXON Missense_D273G exm1285170 17 6716217 [A/G] NM_053285 TEKT1 EXON Missense_T262M exm1285171 17 6716241 [T/C] NM_053285 TEKT1 EXON Missense_R254H exm1285172 17 6716242 [A/G] NM_053285 TEKT1 EXON Missense_R254C exm1285175 17 6716300 [T/G] NM_053285 TEKT1 EXON Missense_N234K exm1285176 17 6716307 [T/C] NM_053285 TEKT1 EXON Missense_R232Q exm1285191 17 6718542 [A/G] NM_053285 TEKT1 EXON Missense_S190L exm1898543 17 6719172 [T/C] NM_053285 TEKT1 EXON Missense_E156K exm1285196 17 6719202 [T/C] NM_053285 TEKT1 EXON Missense_I146V exm1285205 17 6719282 [T/C] NM_053285 TEKT1 Silent exm1285208 17 6722546 [A/G] NM_053285 TEKT1 EXON Missense_P108S exm1285209 17 6722585 [T/C] NM_053285 TEKT1 EXON Missense_K95E exm1285212 17 6722666 [T/C] NM_053285 TEKT1 EXON Missense_E68K exm1285224 17 6733677 [A/G] NM_053285 TEKT1 EXON Missense_P7S exm1285231 17 6900166 [A/G] NR_040089,NM_000697 LOC100506713,ALOX12 EXON Silent,Missense_V53I exm1285233 17 6900216 [A/C] NR_040089,NM_000697 LOC100506713,ALOX12 EXON Silent,Missense_H69Q exm1285243 17 6901831 [T/G] NR_040089,NM_000697 LOC100506713,ALOX12 EXON Silent,Missense_R114L exm1285244 17 6901839 [C/G] NR_040089,NM_000697 LOC100506713,ALOX12 EXON Silent,Missense_G117R exm1285247 17 6901889 [A/C] NR_040089,NM_000697 LOC100506713,ALOX12 EXON Silent,Missense_K133N exm1285248 17 6901890 [C/G] NR_040089,NM_000697 LOC100506713,ALOX12 EXON Silent,Missense_D134H exm1285258 17 6902295 [A/G] NR_040089,NM_000697 LOC100506713,ALOX12 EXON Silent,Missense_R189H exm1285259 17 6902300 [T/C] NR_040089,NM_000697 LOC100506713,ALOX12 EXON Silent,Missense_Y191H exm1285270 17 6902760 [A/G] NR_040089,NM_000697 LOC100506713,ALOX12 EXON Silent,Missense_Q261R exm1285280 17 6904934 [A/G] NR_040089,NM_000697 LOC100506713,ALOX12 EXON Silent,Missense_N322S exm1285285 17 6905011 [T/C] NR_040089,NM_000697 LOC100506713,ALOX12 EXON Silent,Nonsense_R348X exm-rs11571340 17 6908219 [A/G] NR_040089,NM_000697 LOC100506713,ALOX12 Silent,Silent exm1285293 17 6908625 [A/G] NR_040089,NM_000697 LOC100506713,ALOX12 EXON Silent,Missense_R404Q exm2227088 17 6909203 [A/T] NR_040089,NM_000697 LOC100506713,ALOX12 EXON Silent,Missense_H425Q exm1285295 17 6909217 [A/G] NR_040089,NM_000697 LOC100506713,ALOX12 EXON Silent,Missense_R430H exm1285299 17 6909821 [A/G] NR_040089,NM_000697 LOC100506713,ALOX12 EXON Silent,Missense_V479I exm1285323 17 6913336 [A/C] NR_040089,NM_000697 LOC100506713,ALOX12 EXON Silent,Missense_T568N exm1285328 17 6913369 [G/C] NR_040089,NM_000697 LOC100506713,ALOX12 EXON Silent,Missense_G579A exm1285335 17 6913633 [A/G] NR_040089,NM_000697 LOC100506713,ALOX12 EXON Silent,Missense_R628Q exm2227091 17 6915911 [T/G] NR_037717,NM_001004333,NR_037715,NR_037716 RNASEK-C17orf49,RNASEK,RNASEK,RNASEK EXON Silent,Missense_R9L,Silent,Silent exm1285347 17 6917595 [T/C] NR_037717,NM_001004333,NR_037715,NR_037716 RNASEK-C17orf49,RNASEK,RNASEK,RNASEK EXON Silent,Missense_M135T,Silent,Silent exm1285360 17 6919093 [T/C] NR_037717,NM_001142798,NM_174893,NM_001142799 RNASEK-C17orf49,C17orf49,C17orf49,C17orf49 EXON Silent,Synonymous_G39G,Synonymous_G39G,Silent exm1285364 17 6919187 [A/C] NR_037717,NM_001142798,NM_174893,NM_001142799,NR_038310 RNASEK-C17orf49,C17orf49,C17orf49,C17orf49,MIR497HG EXON Silent,Synonymous_R71R,Synonymous_R71R,Silent,Silent exm2253169 17 6919187 [A/C] NR_037717,NM_001142798,NM_174893,NM_001142799,NR_038310 RNASEK-C17orf49,C17orf49,C17orf49,C17orf49,MIR497HG EXON Silent,Synonymous_R71R,Synonymous_R71R,Silent,Silent exm1285366 17 6919942 [T/C] NR_037717,NM_001142798,NM_174893,NM_001142799,NR_038310 RNASEK-C17orf49,C17orf49,C17orf49,C17orf49,MIR497HG EXON Silent,Missense_P116L,Missense_P116L,Missense_P82L,Silent exm1285406 17 6927794 [A/G] NM_181844 BCL6B EXON Missense_G159D exm1285412 17 6927958 [A/G] NM_181844 BCL6B EXON Missense_G214R exm1898814 17 6928052 [A/C] NM_181844 BCL6B EXON Missense_E245A exm1285423 17 6929789 [A/C] NM_181844 BCL6B EXON Missense_F301L exm1285432 17 6929926 [A/G] NM_181844 BCL6B EXON Missense_R347H exm2227094 17 6930342 [A/G] NM_181844 BCL6B EXON Missense_R420H exm1285456 17 6930927 [A/G] NM_181844 BCL6B EXON Missense_G477R exm1285462 17 6939709 [A/G] NM_201566 SLC16A13 EXON Missense_R3H exm1285469 17 6939802 [T/C] NM_201566 SLC16A13 EXON Missense_F34S exm1898842 17 6941749 [A/T] NM_201566 SLC16A13 EXON Missense_T208S exm1285494 17 6941768 [T/G] NM_201566 SLC16A13 EXON Missense_G214V exm1285503 17 6941960 [T/G] NM_201566 SLC16A13 EXON Missense_G278V exm1285522 17 6943090 [T/C] NM_201566 SLC16A13 EXON Missense_R364W exm1285529 17 6943258 [A/G] NM_201566 SLC16A13 EXON Missense_K420E exm1285538 17 6945159 [G/C] NM_153357 SLC16A11 EXON Missense_G419R exm1285556 17 6945669 [T/C] NM_153357 SLC16A11 EXON Missense_G278R exm2253171 17 6945748 [T/C] NM_153357 SLC16A11 EXON Synonymous_T251T exm1285564 17 6945797 [T/C] NM_153357 SLC16A11 EXON Missense_G235D exm1285565 17 6945818 [T/C] NM_153357 SLC16A11 EXON Missense_R228H exm1285570 17 6945936 [C/G] NM_153357 SLC16A11 EXON Missense_D189H exm1285579 17 6946287 [T/C] NM_153357 SLC16A11 EXON Missense_D127G exm1285582 17 6946330 [T/C] NM_153357 SLC16A11 EXON Missense_V113I exm1285600 17 6978458 [A/C] NM_182906,NM_006344 CLEC10A,CLEC10A EXON Missense_G289V,Missense_G265V exm1285603 17 6978501 [T/C] NM_182906,NM_006344 CLEC10A,CLEC10A EXON Missense_G275R,Missense_G251R exm1285605 17 6978504 [A/G] NM_182906,NM_006344 CLEC10A,CLEC10A EXON Missense_H274Y,Missense_H250Y exm1285608 17 6978677 [A/G] NM_182906,NM_006344 CLEC10A,CLEC10A Silent,Silent exm1285616 17 6979117 [C/G] NM_182906,NM_006344 CLEC10A,CLEC10A EXON Missense_A203G,Missense_A179G exm1285617 17 6979169 [T/C] NM_182906,NM_006344 CLEC10A,CLEC10A EXON Missense_V186M,Missense_V162M exm1285619 17 6979203 [C/G] NM_182906,NM_006344 CLEC10A,CLEC10A EXON Synonymous_A174A,Synonymous_A150A exm1285622 17 6979316 [T/G] NM_182906,NM_006344 CLEC10A,CLEC10A EXON Missense_L170I,Missense_L143I exm1285623 17 6979331 [A/G] NM_182906,NM_006344 CLEC10A,CLEC10A EXON Missense_C165R,Missense_C138R exm1285630 17 6980105 [A/G] NM_182906,NM_006344 CLEC10A,CLEC10A EXON Missense_T100M,Missense_T100M exm1285631 17 6980210 [A/C] NM_182906,NM_006344 CLEC10A,CLEC10A Silent,Silent exm1285633 17 6980225 [A/G] NM_182906,NM_006344 CLEC10A,CLEC10A EXON Missense_A89V,Missense_A89V exm1285635 17 6980238 [T/C] NM_182906,NM_006344 CLEC10A,CLEC10A EXON Missense_A85T,Missense_A85T exm1285636 17 6980273 [T/C] NM_182906,NM_006344 CLEC10A,CLEC10A EXON Missense_R73K,Missense_R73K exm1285641 17 6981397 [A/G] NM_182906,NM_006344 CLEC10A,CLEC10A EXON Missense_C35R,Missense_C35R exm2277128 17 6981402 [C/G] NM_182906,NM_006344 CLEC10A,CLEC10A EXON Missense_R33P,Missense_R33P exm1285643 17 6981403 [A/G] NM_182906,NM_006344 CLEC10A,CLEC10A EXON Missense_R33C,Missense_R33C exm1285644 17 6981418 [A/G] NM_182906,NM_006344 CLEC10A,CLEC10A EXON Nonsense_Q28X,Nonsense_Q28X exm1285649 17 6982125 [T/C] NM_182906,NM_006344 CLEC10A,CLEC10A EXON Missense_R3G,Missense_R3G exm2260699 17 6982444 [A/G] NM_182906,NM_006344 CLEC10A,CLEC10A Silent,Silent exm1285659 17 7004941 [A/G] NM_080912,NM_001201352,NM_001181,NM_080914,NM_080913 ASGR2,ASGR2,ASGR2,ASGR2,ASGR2 EXON Missense_R297C,Missense_R292C,Missense_R297C,Missense_R278C,Missense_R273C exm1285664 17 7005004 [C/G] NM_080912,NM_001201352,NM_001181,NM_080914,NM_080913 ASGR2,ASGR2,ASGR2,ASGR2,ASGR2 EXON Missense_E276Q,Missense_E271Q,Missense_E276Q,Missense_E257Q,Missense_E252Q exm1285668 17 7005058 [A/T] NM_080912,NM_001201352,NM_001181,NM_080914,NM_080913 ASGR2,ASGR2,ASGR2,ASGR2,ASGR2 EXON Missense_N258Y,Missense_N253Y,Missense_N258Y,Missense_N239Y,Missense_N234Y exm1285675 17 7005508 [A/G] NM_080912,NM_001201352,NM_001181,NM_080914,NM_080913 ASGR2,ASGR2,ASGR2,ASGR2,ASGR2 EXON Missense_I224T,Missense_I219T,Missense_I224T,Missense_I205T,Missense_I200T exm1285682 17 7010427 [T/G] NM_080912,NM_001201352,NM_001181,NM_080914,NM_080913 ASGR2,ASGR2,ASGR2,ASGR2,ASGR2 EXON Missense_Q185H,Missense_Q180H,Missense_Q185H,Missense_Q166H,Missense_Q161H exm1285688 17 7010550 [T/C] NM_080912,NM_001201352,NM_001181,NM_080914,NM_080913 ASGR2,ASGR2,ASGR2,ASGR2,ASGR2 EXON Missense_G171S,Missense_G166S,Missense_G171S,Missense_G152S,Missense_G147S exm1285700 17 7011225 [T/G] NM_080912,NM_001201352,NM_001181,NM_080914,NM_080913 ASGR2,ASGR2,ASGR2,ASGR2,ASGR2 EXON Synonymous_G118G,Synonymous_G113G,Synonymous_G118G,Synonymous_G99G,Synonymous_G94G exm1285702 17 7011782 [A/G] NM_080912,NM_001201352,NM_001181,NM_080914,NM_080913 ASGR2,ASGR2,ASGR2,ASGR2,ASGR2 EXON Synonymous_H117H,Synonymous_H112H,Synonymous_H117H,Synonymous_H98H,Synonymous_H93H exm1285706 17 7012079 [T/C] NM_080912,NM_001201352,NM_001181,NM_080914,NM_080913 ASGR2,ASGR2,ASGR2,ASGR2,ASGR2 EXON Missense_G85R,Silent,Missense_G85R,Missense_G66R,Silent exm1285734 17 7077122 [T/C] NM_001671,NM_001197216 ASGR1,ASGR1 EXON Nonsense_W244X,Nonsense_W205X exm1285745 17 7077531 [G/C] NM_001671,NM_001197216 ASGR1,ASGR1 EXON Missense_A174P,Missense_A135P exm1285771 17 7080307 [C/G] NM_001671,NM_001197216 ASGR1,ASGR1 EXON Missense_S92R,Missense_S53R exm1285788 17 7081867 [G/C] NM_001671,NM_001197216 ASGR1,ASGR1 EXON Missense_Q6E,Missense_Q6E exm-rs314253 17 7091650 [T/C] exm1285791 17 7094050 [T/C] NM_001128827,NM_001365 DLG4,DLG4 EXON Missense_V715I,Missense_V761I exm1285805 17 7096379 [A/G] NM_001128827,NM_001365 DLG4,DLG4 EXON Missense_S581L,Missense_S627L exm1285816 17 7097019 [T/C] NM_001128827,NM_001365 DLG4,DLG4 EXON Missense_V517I,Missense_V563I exm1285861 17 7107367 [A/G] NM_001128827,NM_001365 DLG4,DLG4 EXON Missense_T54I,Missense_T100I exm1285885 17 7123352 [T/C] NM_001365,NM_001270447,NM_000018,NM_001033859,NM_001270448 DLG4,ACADVL,ACADVL,ACADVL,ACADVL EXON Silent,Silent,Missense_L17F,Missense_L17F,Silent exm1285893 17 7123838 [T/C] NM_001270447,NM_000018,NM_001033859,NM_001270448 ACADVL,ACADVL,ACADVL,ACADVL EXON Missense_P88L,Missense_P65L,Silent,Silent exm1285904 17 7124115 [A/G] NM_001270447,NM_000018,NM_001033859,NM_001270448 ACADVL,ACADVL,ACADVL,ACADVL EXON Missense_K126R,Missense_K103R,Missense_K81R,Missense_K27R exm1285919 17 7124966 [T/C] NM_001270447,NM_000018,NM_001033859,NM_001270448 ACADVL,ACADVL,ACADVL,ACADVL EXON Missense_A219V,Missense_A196V,Missense_A174V,Missense_A120V exm1285934 17 7125561 [G/C] NM_001270447,NM_000018,NM_001033859,NM_001270448 ACADVL,ACADVL,ACADVL,ACADVL EXON Missense_G296A,Missense_G273A,Missense_G251A,Missense_G197A exm1285935 17 7125591 [T/C] NM_001270447,NM_000018,NM_001033859,NM_001270448 ACADVL,ACADVL,ACADVL,ACADVL EXON Missense_V306A,Missense_V283A,Missense_V261A,Missense_V207A exm1285941 17 7126054 [A/G] NM_001270447,NM_000018,NM_001033859,NM_001270448 ACADVL,ACADVL,ACADVL,ACADVL EXON Missense_R339Q,Missense_R316Q,Missense_R294Q,Missense_R240Q exm1285954 17 7126173 [A/G] NM_001270447,NM_000018,NM_001033859,NM_001270448 ACADVL,ACADVL,ACADVL,ACADVL EXON Missense_I379V,Missense_I356V,Missense_I334V,Missense_I280V exm1285978 17 7127312 [A/G] NM_001270447,NM_000018,NM_001033859,NM_001270448 ACADVL,ACADVL,ACADVL,ACADVL EXON Missense_R476Q,Missense_R453Q,Missense_R431Q,Missense_R377Q exm1899174 17 7127562 [A/G] NM_001270447,NM_000018,NM_001033859,NM_001270448 ACADVL,ACADVL,ACADVL,ACADVL EXON Missense_R534Q,Missense_R511Q,Missense_R489Q,Missense_R435Q exm1285985 17 7127674 [A/G] NM_001270447,NM_000018,NM_001033859,NM_001270448 ACADVL,ACADVL,ACADVL,ACADVL EXON Missense_G546R,Missense_G523R,Missense_G501R,Missense_G447R exm1285988 17 7127698 [T/C] NM_001270447,NM_000018,NM_001033859,NM_001270448 ACADVL,ACADVL,ACADVL,ACADVL EXON Missense_R554W,Missense_R531W,Missense_R509W,Missense_R455W exm1285989 17 7127707 [A/G] NM_001270447,NM_000018,NM_001033859,NM_001270448 ACADVL,ACADVL,ACADVL,ACADVL EXON Missense_E557K,Missense_E534K,Missense_E512K,Missense_E458K exm1285998 17 7128179 [A/G] NM_001270447,NM_000018,NM_001033859,NM_001270448 ACADVL,ACADVL,ACADVL,ACADVL EXON Missense_M624I,Missense_M601I,Missense_M579I,Missense_M525I exm1286004 17 7128292 [A/G] NM_001270447,NM_000018,NM_001033859,NM_001270448 ACADVL,ACADVL,ACADVL,ACADVL EXON Missense_R638Q,Missense_R615Q,Missense_R593Q,Missense_R539Q exm1286006 17 7128342 [T/C] NM_001270447,NM_000018,NM_001033859,NM_001270448 ACADVL,ACADVL,ACADVL,ACADVL EXON Missense_R655C,Missense_R632C,Missense_R610C,Missense_R556C exm1286010 17 7129192 [T/C] NM_004422 DVL2 EXON Missense_V735I exm1286027 17 7129497 [T/C] NM_004422 DVL2 EXON Missense_R633Q exm1286030 17 7129501 [A/G] NM_004422 DVL2 EXON Missense_R632W exm2227119 17 7129863 [T/G] NM_004422 DVL2 EXON Missense_L547M exm1286038 17 7129898 [A/G] NM_004422 DVL2 EXON Missense_T535I exm2267979 17 7129974 [A/G] NM_004422 DVL2 Silent exm1286051 17 7130564 [T/C] NM_004422 DVL2 EXON Missense_Y463C exm1286058 17 7130831 [T/C] NM_004422 DVL2 EXON Missense_V419I exm1286060 17 7130842 [T/C] NM_004422 DVL2 EXON Missense_R415Q exm1899226 17 7131010 [T/C] NM_004422 DVL2 EXON Missense_M399V exm1286069 17 7131299 [C/G] NM_004422 DVL2 EXON Missense_R367G exm1286072 17 7131323 [A/G] NM_004422 DVL2 EXON Missense_P359S exm1286098 17 7132918 [A/G] NM_004422 DVL2 EXON Missense_R246C exm1286100 17 7132945 [A/G] NM_004422 DVL2 EXON Missense_R237W exm1286101 17 7132950 [T/C] NM_004422 DVL2 EXON Missense_R235H exm1286119 17 7133635 [T/C] NM_004422 DVL2 EXON Missense_G127S exm2227121 17 7133700 [T/G] NM_004422 DVL2 EXON Missense_E105A exm1286130 17 7134081 [T/C] NM_004422 DVL2 EXON Missense_R77H exm1286135 17 7137424 [A/G] NM_004422 DVL2 EXON Missense_A53V exm1286151 17 7138987 [G/C] NM_024297 PHF23 EXON Missense_E390D exm1286187 17 7139825 [T/C] NM_024297 PHF23 EXON Missense_D141N exm1286203 17 7140955 [T/C] NM_024297 PHF23 EXON Missense_E20G exm1286233 17 7150608 [A/G] NM_001143775,NM_015343 CTDNEP1,CTDNEP1 EXON Missense_R53W,Missense_R53W exm1286247 17 7155861 [A/G] NM_203415,NM_015362,NM_203414,NM_203413 ELP5,ELP5,ELP5,ELP5 EXON Missense_E14K,Missense_E14K,Missense_E14K,Missense_E14K exm1286248 17 7155869 [T/G] NM_203415,NM_015362,NM_203414,NM_203413 ELP5,ELP5,ELP5,ELP5 EXON Missense_E16D,Missense_E16D,Missense_E16D,Missense_E16D exm2227126 17 7161926 [T/C] NM_203415,NM_015362,NM_203414,NM_203413 ELP5,ELP5,ELP5,ELP5 EXON Missense_L220P,Missense_L220P,Missense_L220P,Missense_L220P exm1286284 17 7161956 [A/G] NM_203415,NM_015362,NM_203414,NM_203413 ELP5,ELP5,ELP5,ELP5 EXON Missense_G230E,Missense_G230E,Missense_G230E,Missense_G230E exm1286286 17 7162001 [T/C] NM_203415,NM_015362,NM_203414,NM_203413 ELP5,ELP5,ELP5,ELP5 EXON Missense_P245L,Missense_P245L,Missense_P245L,Missense_P245L exm2274896 17 7162056 [A/C] NM_203415,NM_015362,NM_203414,NM_203413 ELP5,ELP5,ELP5,ELP5 EXON Silent,Silent,Silent,Missense_H263Q exm1286290 17 7162085 [A/G] NM_203415,NM_015362,NM_203414,NM_203413 ELP5,ELP5,ELP5,ELP5 EXON Silent,Silent,Silent,Nonsense_W273X exm1286293 17 7162146 [T/C] NM_203415,NM_015362,NM_203414,NM_203413 ELP5,ELP5,ELP5,ELP5 EXON Missense_V246A,Missense_V246A,Missense_V246A,Silent exm1286304 17 7162906 [T/C] NM_203415,NM_015362,NM_203414,NM_203413 ELP5,ELP5,ELP5,ELP5 EXON Missense_R285W,Missense_R285W,Missense_R285W,Silent exm1286308 17 7162931 [C/G] NM_203415,NM_015362,NM_203414,NM_203413 ELP5,ELP5,ELP5,ELP5 EXON Missense_S293T,Missense_S293T,Missense_S293T,Silent exm1286311 17 7163702 [A/C] NM_001307,NM_001185023,NM_001185022 CLDN7,CLDN7,CLDN7 EXON Missense_E209D,Silent,Missense_E209D exm1286313 17 7163713 [A/G] NM_001307,NM_001185023,NM_001185022 CLDN7,CLDN7,CLDN7 EXON Missense_S206P,Silent,Missense_S206P exm1286316 17 7163734 [A/G] NM_001307,NM_001185023,NM_001185022 CLDN7,CLDN7,CLDN7 EXON Missense_R199C,Silent,Missense_R199C exm1286317 17 7163739 [A/G] NM_001307,NM_001185023,NM_001185022 CLDN7,CLDN7,CLDN7 EXON Missense_V197A,Silent,Missense_V197A exm1286319 17 7163743 [A/G] NM_001307,NM_001185023,NM_001185022 CLDN7,CLDN7,CLDN7 EXON Missense_R196C,Silent,Missense_R196C exm1286327 17 7163820 [C/G] NM_001307,NM_001185023,NM_001185022 CLDN7,CLDN7,CLDN7 EXON Missense_A170G,Missense_Q142E,Missense_A170G exm1286332 17 7163961 [T/C] NM_001307,NM_001185023,NM_001185022 CLDN7,CLDN7,CLDN7 EXON Missense_K158R,Silent,Missense_K158R exm1286336 17 7164031 [T/C] NM_001307,NM_001185023,NM_001185022 CLDN7,CLDN7,CLDN7 EXON Missense_V135I,Silent,Missense_V135I exm1286361 17 7186603 [T/G] NM_001042 SLC2A4 EXON Missense_V25F exm1286364 17 7186844 [T/G] NM_001042 SLC2A4 EXON Missense_G68V exm1286366 17 7186877 [C/G] NM_001042 SLC2A4 EXON Missense_T79S exm1286379 17 7187299 [T/C] NM_001042 SLC2A4 EXON Missense_T152I exm1286393 17 7187870 [A/G] NM_001042 SLC2A4 EXON Missense_R265Q exm1286396 17 7187929 [T/C] NM_001042 SLC2A4 EXON Missense_R285W exm1286414 17 7188423 [A/G] NM_001042 SLC2A4 EXON Missense_R346Q exm1286421 17 7188459 [T/C] NM_001042 SLC2A4 EXON Missense_A358V exm1286425 17 7189048 [A/G] NM_001042 SLC2A4 EXON Missense_V383I exm1286433 17 7189746 [A/C] NM_001042 SLC2A4 EXON Missense_E443A exm1286455 17 7192868 [T/C] NM_015982 YBX2 EXON Missense_R342Q exm1286456 17 7192869 [C/G] NM_015982 YBX2 EXON Missense_R342G exm1286467 17 7193025 [A/G] NM_015982 YBX2 EXON Missense_R290C exm1286476 17 7193598 [T/C] NM_015982 YBX2 EXON Missense_R239Q exm1286483 17 7193709 [A/G] NM_015982 YBX2 EXON Missense_A202V exm2227129 17 7215142 [A/G] NM_001143760,NM_001970,NM_001143761,NM_001143762 EIF5A,EIF5A,EIF5A,EIF5A EXON Silent,Silent,Silent,Silent exm1286540 17 7216434 [A/G] NM_004489 GPS2 EXON Missense_R272C exm1286557 17 7216923 [T/C] NM_004489 GPS2 EXON Missense_T200A exm2253189 17 7217463 [T/C] NM_004489 GPS2 EXON Synonymous_L111L exm1286593 17 7219552 [T/C] NM_032442,NM_001005408 NEURL4,NEURL4 EXON Missense_A1527T,Missense_A1525T exm1286604 17 7220846 [T/C] NM_032442,NM_001005408 NEURL4,NEURL4 EXON Missense_M1418V,Missense_M1416V exm1286605 17 7220881 [T/C] NM_032442,NM_001005408 NEURL4,NEURL4 EXON Missense_R1406H,Missense_R1404H exm1286606 17 7220882 [A/G] NM_032442,NM_001005408 NEURL4,NEURL4 EXON Missense_R1406C,Missense_R1404C exm1286607 17 7221167 [T/C] NM_032442,NM_001005408 NEURL4,NEURL4 EXON Missense_R1382H,Missense_R1380H exm1286609 17 7221197 [T/C] NM_032442,NM_001005408 NEURL4,NEURL4 EXON Missense_R1372Q,Missense_R1370Q exm1286610 17 7221233 [A/G] NM_032442,NM_001005408 NEURL4,NEURL4 EXON Missense_P1360L,Missense_P1358L exm1286611 17 7221240 [T/G] NM_032442,NM_001005408 NEURL4,NEURL4 EXON Missense_M1358L,Missense_M1356L exm1286613 17 7221385 [A/G] NM_032442,NM_001005408 NEURL4,NEURL4 EXON Synonymous_P1353P,Synonymous_P1351P exm1286615 17 7221432 [T/C] NM_032442,NM_001005408 NEURL4,NEURL4 EXON Missense_E1338K,Missense_E1336K exm1286617 17 7221459 [T/G] NM_032442,NM_001005408 NEURL4,NEURL4 EXON Missense_P1329T,Missense_P1327T exm1899587 17 7221589 [A/G] NM_032442,NM_001005408 NEURL4,NEURL4 EXON Synonymous_D1317D,Synonymous_D1315D exm1286641 17 7222374 [A/G] NM_032442,NM_001005408 NEURL4,NEURL4 EXON Missense_L1227F,Missense_L1225F exm1286645 17 7222419 [A/G] NM_032442,NM_001005408 NEURL4,NEURL4 EXON Missense_R1212W,Missense_R1210W exm1286649 17 7222476 [C/G] NM_032442,NM_001005408 NEURL4,NEURL4 EXON Missense_V1193L,Missense_V1191L exm1286653 17 7224119 [T/C] NM_032442,NM_001005408 NEURL4,NEURL4 EXON Missense_V1162I,Missense_V1160I exm1286660 17 7224433 [T/C] NM_032442,NM_001005408 NEURL4,NEURL4 EXON Missense_G1120R,Missense_G1118R exm1286671 17 7224736 [T/G] NM_032442,NM_001005408 NEURL4,NEURL4 EXON Missense_M1048L,Missense_M1046L exm1286675 17 7224921 [G/C] NM_032442,NM_001005408 NEURL4,NEURL4 EXON Missense_Q1019H,Missense_Q1017H exm1286677 17 7225034 [T/C] NM_032442,NM_001005408 NEURL4,NEURL4 EXON Missense_E982K,Missense_E980K exm1286699 17 7226101 [A/G] NM_032442,NM_001005408 NEURL4,NEURL4 EXON Missense_A893V,Missense_A891V exm1286700 17 7226274 [T/C] NM_032442,NM_001005408 NEURL4,NEURL4 EXON Synonymous_P862P,Synonymous_P862P exm1286702 17 7226276 [G/C] NM_032442,NM_001005408 NEURL4,NEURL4 EXON Missense_P862A,Missense_P862A exm1286715 17 7227133 [T/C] NM_032442,NM_001005408 NEURL4,NEURL4 EXON Missense_R754Q,Missense_R754Q exm1286719 17 7227181 [T/C] NM_032442,NM_001005408 NEURL4,NEURL4 EXON Missense_R738H,Missense_R738H exm1286723 17 7227200 [T/C] NM_032442,NM_001005408 NEURL4,NEURL4 EXON Missense_G732R,Missense_G732R exm1286731 17 7227487 [T/C] NM_032442,NM_001005408 NEURL4,NEURL4 EXON Missense_V668I,Missense_V668I exm1286752 17 7228637 [A/G] NM_032442,NM_001005408 NEURL4,NEURL4 EXON Missense_R508C,Missense_R508C exm1286779 17 7230526 [T/C] NM_032442,NM_001005408 NEURL4,NEURL4 EXON Missense_A251T,Missense_A251T exm1286781 17 7230768 [T/C] NM_032442,NM_001005408 NEURL4,NEURL4 EXON Missense_A240T,Missense_A240T exm1286783 17 7230845 [T/G] NM_032442,NM_001005408 NEURL4,NEURL4 EXON Missense_P214H,Missense_P214H exm1286793 17 7231203 [T/C] NM_032442,NM_001005408 NEURL4,NEURL4 EXON Missense_V95I,Missense_V95I exm1286810 17 7240106 [A/G] NM_014716 ACAP1 EXON Missense_R18Q exm1286814 17 7245267 [G/C] NM_014716 ACAP1 EXON Missense_L38V exm1286815 17 7245325 [A/G] NM_014716 ACAP1 EXON Missense_R57H exm1286819 17 7245357 [T/C] NM_014716 ACAP1 EXON Missense_R68C exm1286822 17 7245382 [T/C] NM_014716 ACAP1 EXON Missense_M76T exm1899918 17 7246706 [A/G] NM_014716 ACAP1 EXON Missense_R118Q exm1286840 17 7246859 [A/G] NM_014716 ACAP1 EXON Missense_R169Q exm1286847 17 7247240 [T/C] NM_014716 ACAP1 EXON Missense_R212W exm1286848 17 7247241 [A/G] NM_014716 ACAP1 EXON Missense_R212Q exm1286862 17 7249720 [A/C] NM_014716 ACAP1 EXON Missense_T306N exm1286874 17 7250423 [C/G] NM_014716 ACAP1 EXON Missense_G402A exm1286875 17 7250428 [G/C] NM_014716 ACAP1 EXON Missense_V404L exm2253196 17 7250436 [T/C] NM_014716 ACAP1 EXON Synonymous_H406H exm1286877 17 7250488 [T/C] NM_014716 ACAP1 EXON Missense_R424W exm1286899 17 7251713 [T/C] NM_014716 ACAP1 EXON Missense_R533W exm1286918 17 7253516 [A/G] NM_014716 ACAP1 EXON Missense_T678A exm1286923 17 7254315 [A/G] NM_014716 ACAP1 EXON Missense_A707T exm1286927 17 7254692 [A/G] NM_014716 ACAP1 EXON Missense_S734N exm1286930 17 7256325 [A/G] NM_001002914 KCTD11 EXON Missense_G22S exm1286937 17 7256503 [A/G] NM_001002914 KCTD11 EXON Missense_G81E exm1286951 17 7256944 [T/G] NM_001002914 KCTD11 EXON Missense_R228L exm1286965 17 7258620 [T/C] NM_198154 TMEM95 EXON Missense_R33W exm1286974 17 7259169 [T/C] NM_198154 TMEM95 EXON Missense_A80V exm1286976 17 7259183 [A/C] NM_198154 TMEM95 EXON Missense_P85T exm1286985 17 7259577 [T/C] NM_198154 TMEM95 EXON Nonsense_R139X exm1900051 17 7259920 [T/C] NM_198154 TMEM95 EXON Missense_S175F exm1286994 17 7259948 [T/G] NM_198154 TMEM95 EXON Missense_L184F exm1287002 17 7286289 [A/G] NM_001251902,NM_003985 TNK1,TNK1 EXON Missense_R15Q,Missense_R15Q exm1287007 17 7286360 [A/G] NM_001251902,NM_003985 TNK1,TNK1 EXON Missense_D39N,Missense_D39N exm1287031 17 7287832 [A/C] NM_001251902,NM_003985 TNK1,TNK1 EXON Missense_A299D,Missense_A299D exm1287036 17 7289883 [A/G] NM_001251902,NM_003985 TNK1,TNK1 EXON Missense_G381R,Missense_G381R exm1287045 17 7290383 [T/C] NM_001251902,NM_003985 TNK1,TNK1 EXON Missense_T441M,Missense_T436M exm1287052 17 7290443 [A/G] NM_001251902,NM_003985 TNK1,TNK1 EXON Missense_R461Q,Missense_R456Q exm1287054 17 7290695 [A/G] NM_001251902,NM_003985 TNK1,TNK1 Silent,Silent exm1287056 17 7290705 [A/G] NM_001251902,NM_003985 TNK1,TNK1 EXON Missense_K474R,Missense_K469R exm1287062 17 7291802 [T/C] NM_001251902,NM_003985 TNK1,TNK1 EXON Nonsense_R524X,Nonsense_R519X exm1287065 17 7291869 [C/G] NM_001251902,NM_003985 TNK1,TNK1 EXON Missense_S546C,Missense_S541C exm1287067 17 7291943 [G/C] NM_001251902,NM_003985 TNK1,TNK1 EXON Missense_G571R,Missense_G566R exm1287069 17 7292107 [A/G] NM_001251902,NM_003985 TNK1,TNK1 EXON Missense_V598M,Missense_V593M exm1287070 17 7292117 [A/G] NM_001251902,NM_003985 TNK1,TNK1 EXON Missense_S601N,Missense_S596N exm1287074 17 7292305 [T/C] NM_001251902,NM_003985 TNK1,TNK1 EXON Missense_H635Y,Missense_H630Y exm1287081 17 7293715 [T/C] NR_037719,NM_020360,NM_001201576 C17orf61-PLSCR3,PLSCR3,PLSCR3 EXON Silent,Missense_V293I,Missense_V293I exm1287086 17 7293752 [T/C] NR_037719,NM_020360,NM_001201576 C17orf61-PLSCR3,PLSCR3,PLSCR3 EXON Silent,Missense_M280I,Missense_M280I exm1900416 17 7294065 [A/C] NR_037719,NM_020360,NM_001201576 C17orf61-PLSCR3,PLSCR3,PLSCR3 EXON Silent,Missense_W240L,Missense_W240L exm-rs8075287 17 7295071 [T/C] NR_037719,NM_020360,NM_001201576 C17orf61-PLSCR3,PLSCR3,PLSCR3 Silent,Silent,Silent exm1287124 17 7307391 [G/C] NR_037719,NM_152766 C17orf61-PLSCR3,TMEM256 EXON Silent,Missense_A5P exm1287127 17 7311737 [T/C] NM_020795 NLGN2 EXON Missense_R55W exm1287168 17 7319110 [A/G] NM_020795 NLGN2 EXON Missense_D440N exm1287182 17 7320292 [A/G] NM_020795 NLGN2 EXON Missense_K561R exm1287187 17 7320444 [T/C] NM_020795 NLGN2 EXON Missense_H612Y exm1287203 17 7320631 [T/C] NM_020795 NLGN2 EXON Missense_T674M exm2253204 17 7320731 [T/G] NM_020795 NLGN2 EXON Synonymous_L707L exm1287214 17 7320870 [A/G] NM_020795 NLGN2 EXON Missense_G754R exm1287229 17 7323821 [A/G] NM_199339 SPEM1 EXON Missense_N40D exm1287231 17 7323955 [T/C] NM_199339 SPEM1 EXON Nonsense_R52X exm1287235 17 7323980 [T/C] NM_199339 SPEM1 EXON Missense_V60A exm1287244 17 7324299 [T/C] NM_199339 SPEM1 EXON Missense_M102T exm1287246 17 7324331 [T/C] NM_199339 SPEM1 EXON Missense_R113C exm1287250 17 7324340 [A/G] NM_199339 SPEM1 EXON Missense_G116S exm1287259 17 7324547 [A/G] NM_199339 SPEM1 EXON Missense_V185I exm1287262 17 7324583 [A/G] NM_199339 SPEM1 EXON Missense_E197K exm1287265 17 7324652 [A/G] NM_199339 SPEM1 EXON Missense_K220E exm1287270 17 7324713 [T/C] NM_199339 SPEM1 EXON Missense_A240V exm1287274 17 7324770 [A/G] NM_199339 SPEM1 EXON Missense_R259Q exm1287276 17 7324788 [A/G] NM_199339 SPEM1 EXON Missense_R265Q exm1287281 17 7324877 [A/G] NM_199339 SPEM1 EXON Missense_E295K exm1287283 17 7324950 [A/G] NM_199339 SPEM1 EXON Silent exm1287293 17 7329134 [A/G] NM_175734 C17orf74 EXON Missense_V43M exm1287296 17 7329361 [T/C] NM_175734 C17orf74 EXON Missense_T63I exm1287303 17 7329632 [T/G] NM_175734 C17orf74 EXON Missense_S108A exm1287309 17 7329684 [A/G] NM_175734 C17orf74 EXON Missense_R125H exm1287310 17 7329689 [T/C] NM_175734 C17orf74 EXON Missense_R127C exm1287311 17 7329692 [T/C] NM_175734 C17orf74 EXON Missense_R128C exm1287315 17 7329708 [A/G] NM_175734 C17orf74 EXON Missense_R133H exm1287319 17 7329746 [G/C] NM_175734 C17orf74 EXON Missense_Q146E exm1287325 17 7329852 [T/C] NM_175734 C17orf74 EXON Missense_P181L exm1287328 17 7329914 [A/G] NM_175734 C17orf74 EXON Missense_G202S exm2253207 17 7330180 [T/C] NM_175734 C17orf74 EXON Synonymous_P290P exm1287346 17 7330244 [A/G] NM_175734 C17orf74 EXON Missense_D312N exm1287351 17 7330277 [T/C] NM_175734 C17orf74 EXON Missense_R323C exm1287360 17 7330395 [A/G] NM_175734 C17orf74 EXON Missense_R362H exm1287361 17 7330437 [A/G] NM_175734 C17orf74 EXON Missense_Q376R exm1900860 17 7330658 [A/C] NM_175734 C17orf74 EXON Synonymous_R450R exm1287379 17 7330712 [T/C] NM_175734 C17orf74 EXON Missense_R468W exm1287392 17 7339525 [T/G] NM_178518 TMEM102 EXON Missense_R76L exm1287398 17 7339627 [T/C] NM_178518 TMEM102 EXON Missense_A110V exm1287409 17 7339882 [T/G] NM_178518 TMEM102 EXON Missense_S195I exm1287410 17 7339884 [T/C] NM_178518 TMEM102 EXON Missense_Y196H exm1900887 17 7340025 [A/G] NM_178518 TMEM102 EXON Missense_A243T exm1287422 17 7340292 [C/G] NM_178518 TMEM102 EXON Missense_R332G exm2253208 17 7345106 [T/C] NM_004112 FGF11 EXON Synonymous_L106L exm1287497 17 7350248 [A/G] NM_000747 CHRNB1 EXON Missense_V114M exm1287512 17 7350957 [A/G] NM_000747 CHRNB1 EXON Missense_G200R exm1901132 17 7351934 [A/G] NM_000747 CHRNB1 EXON Missense_R216Q exm1287517 17 7351976 [A/G] NM_000747 CHRNB1 EXON Missense_G230E exm1287519 17 7352011 [T/C] NM_000747 CHRNB1 EXON Missense_R242C exm1901136 17 7352012 [A/G] NM_000747 CHRNB1 EXON Missense_R242H exm1287520 17 7352014 [T/C] NM_000747 CHRNB1 EXON Missense_R243C exm1287534 17 7358622 [A/C] NM_000747 CHRNB1 EXON Missense_P355Q exm1287544 17 7359154 [T/C] NM_000747 CHRNB1 EXON Missense_I420T exm1287545 17 7359163 [A/C] NM_000747 CHRNB1 EXON Missense_P423Q exm1901224 17 7359930 [T/C] NM_000747 CHRNB1 EXON Missense_M465T exm1287549 17 7359960 [T/C] NM_000747 CHRNB1 EXON Missense_F475S exm-rs9217 17 7363088 [T/C] NM_001128833,NM_020899 ZBTB4,ZBTB4 EXON Silent,Silent exm1287562 17 7365408 [A/G] NM_001128833,NM_020899 ZBTB4,ZBTB4 EXON Missense_P965S,Missense_P965S exm1287566 17 7365486 [T/C] NM_001128833,NM_020899 ZBTB4,ZBTB4 EXON Missense_S939G,Missense_S939G exm1287569 17 7365584 [T/C] NM_001128833,NM_020899 ZBTB4,ZBTB4 EXON Missense_R906Q,Missense_R906Q exm1287571 17 7365651 [A/G] NM_001128833,NM_020899 ZBTB4,ZBTB4 EXON Missense_R884W,Missense_R884W exm1287581 17 7365863 [T/C] NM_001128833,NM_020899 ZBTB4,ZBTB4 EXON Missense_D813G,Missense_D813G exm1287582 17 7365867 [T/C] NM_001128833,NM_020899 ZBTB4,ZBTB4 EXON Missense_G812R,Missense_G812R exm1287584 17 7365909 [A/G] NM_001128833,NM_020899 ZBTB4,ZBTB4 EXON Missense_P798S,Missense_P798S exm1287599 17 7366143 [A/C] NM_001128833,NM_020899 ZBTB4,ZBTB4 EXON Missense_A720S,Missense_A720S exm1287603 17 7366151 [A/G] NM_001128833,NM_020899 ZBTB4,ZBTB4 EXON Missense_A717V,Missense_A717V exm1901308 17 7366209 [A/G] NM_001128833,NM_020899 ZBTB4,ZBTB4 EXON Missense_W698R,Missense_W698R exm1287615 17 7366348 [A/C] NM_001128833,NM_020899 ZBTB4,ZBTB4 EXON Missense_D651E,Missense_D651E exm1287621 17 7366619 [T/C] NM_001128833,NM_020899 ZBTB4,ZBTB4 EXON Missense_N561S,Missense_N561S exm1287639 17 7366994 [T/G] NM_001128833,NM_020899 ZBTB4,ZBTB4 EXON Missense_E436A,Missense_E436A exm1287646 17 7369111 [T/G] NM_001128833,NM_020899 ZBTB4,ZBTB4 EXON Missense_Y337S,Missense_Y337S exm1287696 17 7385353 [T/C] NM_020899,NM_001102614 ZBTB4,SLC35G6 EXON Silent,Missense_S17L exm2227226 17 7385617 [A/G] NM_020899,NM_001102614 ZBTB4,SLC35G6 EXON Silent,Missense_Y105C exm1287735 17 7386055 [T/C] NM_020899,NM_001102614 ZBTB4,SLC35G6 EXON Silent,Missense_P251L exm1287736 17 7386061 [A/G] NM_020899,NM_001102614 ZBTB4,SLC35G6 EXON Silent,Nonsense_W253X exm1287810 17 7401414 [A/G] NM_000937 POLR2A EXON Missense_R407H exm1902059 17 7402440 [A/G] NM_000937 POLR2A EXON Missense_R473Q exm1287816 17 7402600 [T/C] NM_000937 POLR2A EXON Synonymous_S487S exm2253226 17 7416512 [T/C] NM_000937 POLR2A EXON Synonymous_Y1643Y exm2253228 17 7416791 [A/C] NM_000937 POLR2A EXON Synonymous_P1736P exm-rs6761 17 7417663 [T/C] NM_000937 POLR2A EXON Silent exm1288045 17 7454275 [A/G] NM_172089,NR_037146,NM_003809 TNFSF12-TNFSF13,TNFSF12,TNFSF12 EXON Missense_G118E,Silent,Missense_G118E exm1288069 17 7462469 [T/C] NM_172089,NM_172087,NM_172088,NR_073490,NM_001198622,NM_003808,NM_001198623,NM_001198624 TNFSF12-TNFSF13,TNFSF13,TNFSF13,TNFSF13,TNFSF13,TNFSF13,TNFSF13,TNFSF13 EXON Silent,Missense_A38V,Missense_A38V,Silent,Missense_A38V,Missense_A38V,Missense_A38V,Missense_A21V exm1288071 17 7462555 [A/G] NM_172089,NM_172087,NM_172088,NR_073490,NM_001198622,NM_003808,NM_001198623,NM_001198624 TNFSF12-TNFSF13,TNFSF13,TNFSF13,TNFSF13,TNFSF13,TNFSF13,TNFSF13,TNFSF13 EXON Silent,Missense_G67R,Missense_G67R,Silent,Missense_G67R,Missense_G67R,Missense_G67R,Missense_G50R exm1288075 17 7462969 [A/G] NM_172089,NM_172087,NM_172088,NR_073490,NM_001198622,NM_003808,NM_001198623,NM_001198624 TNFSF12-TNFSF13,TNFSF13,TNFSF13,TNFSF13,TNFSF13,TNFSF13,TNFSF13,TNFSF13 EXON Missense_N176S,Missense_N96S,Missense_N96S,Silent,Silent,Missense_N96S,Silent,Silent exm1288123 17 7466802 [T/C] NM_015670,NR_037926 SENP3,SENP3-EIF4A1 EXON Missense_L137F,Silent exm1288129 17 7467063 [T/G] NM_015670,NR_037926 SENP3,SENP3-EIF4A1 EXON Missense_D224Y,Silent exm1288131 17 7467942 [A/G] NM_015670,NR_037926 SENP3,SENP3-EIF4A1 EXON Missense_G239D,Silent exm1288132 17 7467959 [C/G] NM_015670,NR_037926 SENP3,SENP3-EIF4A1 EXON Missense_L245V,Silent exm1288136 17 7468098 [A/G] NM_015670,NR_037926 SENP3,SENP3-EIF4A1 EXON Missense_G291D,Silent exm1288142 17 7468277 [T/C] NM_015670,NR_037926 SENP3,SENP3-EIF4A1 EXON Synonymous_S319S,Silent exm1288158 17 7474058 [A/G] NM_015670,NR_037926 SENP3,SENP3-EIF4A1 EXON Synonymous_Q513Q,Silent exm1288235 17 7483046 [T/G] NM_001251,NM_001040059 CD68,CD68 Silent,Silent exm1288244 17 7483200 [T/C] NM_001251,NM_001040059 CD68,CD68 EXON Missense_T41M,Silent exm1288257 17 7483406 [A/G] NM_001251,NM_001040059 CD68,CD68 EXON Missense_S110G,Missense_S83G exm2227296 17 7483476 [A/G] NM_001251,NM_001040059 CD68,CD68 EXON Missense_G133E,Missense_G106E exm1288274 17 7484101 [A/C] NM_001251,NM_001040059 CD68,CD68 EXON Missense_Q254K,Missense_Q227K exm2253237 17 7484227 [A/G] NM_001251,NM_001040059 CD68,CD68 EXON Synonymous_S258S,Synonymous_S231S exm1288286 17 7484750 [T/C] NM_001251,NM_001040059 CD68,CD68 EXON Missense_I329T,Missense_I302T exm1288288 17 7484782 [A/G] NM_001251,NM_001040059 CD68,CD68 EXON Missense_A340T,Missense_A313T exm1288291 17 7484812 [A/G] NM_001251,NM_001040059 CD68,CD68 EXON Missense_A350T,Missense_A323T exm1288299 17 7487223 [T/C] NR_024603,NM_004870 MPDU1,MPDU1 EXON Silent,Missense_P15S exm1288308 17 7490045 [T/C] NR_024603,NM_004870 MPDU1,MPDU1 EXON Silent,Missense_T113M exm1288312 17 7490231 [G/C] NR_024603,NM_004870 MPDU1,MPDU1 EXON Silent,Missense_A135P exm1288321 17 7490531 [T/C] NR_024603,NM_004870 MPDU1,MPDU1 EXON Silent,Missense_A187V exm1288326 17 7490777 [T/G] NR_024603,NM_004870 MPDU1,MPDU1 EXON Silent,Missense_V218L exm1288327 17 7490787 [G/C] NR_024603,NM_004870 MPDU1,MPDU1 EXON Silent,Missense_S221C exm1288329 17 7490798 [A/G] NR_024603,NM_004870 MPDU1,MPDU1 EXON Silent,Missense_G225S exm1288331 17 7490810 [A/G] NR_024603,NM_004870 MPDU1,MPDU1 EXON Silent,Missense_A229T exm1288363 17 7495179 [T/G] NM_004860 FXR2 EXON Missense_E664A exm1288365 17 7495219 [T/C] NM_004860 FXR2 EXON Missense_K651E exm1288379 17 7496152 [A/G] NM_004860 FXR2 EXON Missense_P530L exm1288385 17 7496382 [T/C] NM_004860 FXR2 EXON Missense_R483Q exm1288395 17 7496478 [A/G] NM_004860 FXR2 EXON Missense_T451I exm2253240 17 7498067 [T/C] NM_004860 FXR2 EXON Synonymous_E280E exm1903057 17 7529901 [A/C] NR_027463,NM_133491 SHBG,SAT2 EXON Silent,Missense_R126L exm1288441 17 7529902 [A/G] NR_027463,NM_133491 SHBG,SAT2 EXON Silent,Missense_R126C exm1288460 17 7530888 [A/C] NR_027463,NM_133491 SHBG,SAT2 EXON Silent,Synonymous_R22R exm1288461 17 7530889 [A/C] NR_027463,NM_133491 SHBG,SAT2 EXON Silent,Missense_R22L exm1288463 17 7530929 [T/C] NR_027463,NM_133491 SHBG,SAT2 EXON Silent,Missense_A9T exm1288487 17 7534042 [T/C] NR_027463,NR_027462,NM_001040,NM_001146281,NM_001146280,NM_001146279 SHBG,SHBG,SHBG,SHBG,SHBG,SHBG EXON Silent,Silent,Missense_V83A,Missense_V83A,Missense_V83A,Missense_V83A exm1288490 17 7534162 [A/G] NR_027463,NR_027462,NM_001040,NM_001146281,NM_001146280,NM_001146279 SHBG,SHBG,SHBG,SHBG,SHBG,SHBG EXON Silent,Silent,Missense_R123Q,Missense_R123Q,Missense_R123Q,Missense_R123Q exm1288500 17 7534659 [G/C] NR_027463,NR_027462,NM_001040,NM_001146281,NM_001146280,NM_001146279 SHBG,SHBG,SHBG,SHBG,SHBG,SHBG EXON Silent,Silent,Missense_A179P,Missense_A179P,Missense_A179P,Missense_A179P exm1288503 17 7534678 [T/C] NR_027463,NR_027462,NM_001040,NM_001146281,NM_001146280,NM_001146279 SHBG,SHBG,SHBG,SHBG,SHBG,SHBG EXON Silent,Silent,Missense_P185L,Missense_P185L,Missense_P185L,Missense_P185L exm1288506 17 7534931 [A/C] NR_027463,NR_027462,NM_001040,NM_001146281,NM_001146280,NM_001146279 SHBG,SHBG,SHBG,SHBG,SHBG,SHBG EXON Silent,Silent,Missense_L194M,Missense_L194M,Missense_L194M,Silent exm1288510 17 7535009 [T/G] NR_027463,NR_027462,NM_001040,NM_001146281,NM_001146280,NM_001146279 SHBG,SHBG,SHBG,SHBG,SHBG,SHBG EXON Silent,Silent,Nonsense_E220X,Nonsense_E220X,Nonsense_E220X,Nonsense_E202X exm1288528 17 7536527 [A/G] NR_027463,NR_027462,NM_001040,NM_001146281,NM_001146280,NM_001146279 SHBG,SHBG,SHBG,SHBG,SHBG,SHBG EXON Silent,Silent,Missense_D356N,Missense_D241N,Synonymous_K286K,Missense_D338N exm1288530 17 7536587 [A/G] NR_027463,NR_027462,NM_001040,NM_001146281,NM_001146280,NM_001146279 SHBG,SHBG,SHBG,SHBG,SHBG,SHBG EXON Silent,Silent,Missense_D376N,Missense_D261N,Silent,Missense_D358N exm1288532 17 7536654 [A/C] NR_027463,NR_027462,NM_001040,NM_001146281,NM_001146280,NM_001146279 SHBG,SHBG,SHBG,SHBG,SHBG,SHBG EXON Silent,Silent,Missense_T398N,Missense_T283N,Silent,Missense_T380N exm1288546 17 7557394 [T/A] NM_001678 ATP1B2 EXON Missense_Q124L exm2253244 17 7557419 [A/G] NM_001678 ATP1B2 EXON Synonymous_G132G exm1288547 17 7557419 [A/G] NM_001678 ATP1B2 EXON Synonymous_G132G exm1288550 17 7557465 [T/C] NM_001678 ATP1B2 EXON Missense_R148C exm1288551 17 7557466 [A/G] NM_001678 ATP1B2 EXON Missense_R148H exm1288555 17 7557527 [G/C] NM_001678 ATP1B2 EXON Missense_H168Q exm1903155 17 7559161 [A/G] NM_001678 ATP1B2 EXON Missense_R274Q exm2227309 17 7573945 [T/C] NM_001126118,NM_001126112,NM_001126113,NM_001126114,NM_001126116,NM_000546,NM_001126117,NM_001126115 TP53,TP53,TP53,TP53,TP53,TP53,TP53,TP53 EXON Missense_G322E,Missense_G361E,Silent,Silent,Silent,Missense_G361E,Silent,Missense_G229E exm1903161 17 7574013 [A/G] NM_001126118,NM_001126112,NM_001126113,NM_001126114,NM_001126116,NM_000546,NM_001126117,NM_001126115 TP53,TP53,TP53,TP53,TP53,TP53,TP53,TP53 EXON Synonymous_F299F,Synonymous_F338F,Silent,Silent,Silent,Synonymous_F338F,Silent,Synonymous_F206F exm1288594 17 7577091 [A/G] NM_001126118,NM_001126112,NM_001126113,NM_001126114,NM_001126116,NM_000546,NM_001126117,NM_001126115 TP53,TP53,TP53,TP53,TP53,TP53,TP53,TP53 EXON Missense_R244C,Missense_R283C,Missense_R283C,Missense_R283C,Missense_R151C,Missense_R283C,Missense_R151C,Missense_R151C exm1288597 17 7577577 [T/C] NM_001126118,NM_001126112,NM_001126113,NM_001126114,NM_001126116,NM_000546,NM_001126117,NM_001126115 TP53,TP53,TP53,TP53,TP53,TP53,TP53,TP53 EXON Missense_N196S,Missense_N235S,Missense_N235S,Missense_N235S,Missense_N103S,Missense_N235S,Missense_N103S,Missense_N103S exm1903177 17 7579705 [T/C] NM_001126118,NM_001126112,NM_001126113,NM_001126114,NM_000546 TP53,TP53,TP53,TP53,TP53 EXON Silent,Missense_V31I,Missense_V31I,Missense_V31I,Missense_V31I exm1288646 17 7591997 [T/C] NM_001143990,NM_001143991,NM_001143992,NM_018081 WRAP53,WRAP53,WRAP53,WRAP53 EXON Missense_P11S,Missense_P11S,Missense_P11S,Missense_P11S exm1288648 17 7592012 [T/G] NM_001143990,NM_001143991,NM_001143992,NM_018081 WRAP53,WRAP53,WRAP53,WRAP53 EXON Missense_S16A,Missense_S16A,Missense_S16A,Missense_S16A exm1288657 17 7592153 [A/G] NM_001143990,NM_001143991,NM_001143992,NM_018081 WRAP53,WRAP53,WRAP53,WRAP53 EXON Missense_V63M,Missense_V63M,Missense_V63M,Missense_V63M exm1288658 17 7592168 [C/G] NM_001143990,NM_001143991,NM_001143992,NM_018081 WRAP53,WRAP53,WRAP53,WRAP53 EXON Missense_R68G,Missense_R68G,Missense_R68G,Missense_R68G exm1288666 17 7592316 [A/C] NM_001143990,NM_001143991,NM_001143992,NM_018081 WRAP53,WRAP53,WRAP53,WRAP53 EXON Missense_E117A,Missense_E117A,Missense_E117A,Missense_E117A exm1288667 17 7592361 [A/C] NM_001143990,NM_001143991,NM_001143992,NM_018081 WRAP53,WRAP53,WRAP53,WRAP53 EXON Missense_T132N,Missense_T132N,Missense_T132N,Missense_T132N exm1288668 17 7592373 [C/G] NM_001143990,NM_001143991,NM_001143992,NM_018081 WRAP53,WRAP53,WRAP53,WRAP53 EXON Missense_P136R,Missense_P136R,Missense_P136R,Missense_P136R exm1288670 17 7592543 [A/G] NM_001143990,NM_001143991,NM_001143992,NM_018081 WRAP53,WRAP53,WRAP53,WRAP53 EXON Missense_A145T,Missense_A145T,Missense_A145T,Missense_A145T exm1288683 17 7604777 [T/C] NM_001143990,NM_001143991,NM_001143992,NM_018081 WRAP53,WRAP53,WRAP53,WRAP53 EXON Synonymous_Y244Y,Synonymous_Y244Y,Synonymous_Y244Y,Synonymous_Y244Y exm1288684 17 7604778 [A/G] NM_001143990,NM_001143991,NM_001143992,NM_018081 WRAP53,WRAP53,WRAP53,WRAP53 EXON Missense_V245M,Missense_V245M,Missense_V245M,Missense_V245M exm1288696 17 7605071 [T/C] NM_001143990,NM_001143991,NM_001143992,NM_018081 WRAP53,WRAP53,WRAP53,WRAP53 EXON Missense_R307W,Missense_R307W,Missense_R307W,Missense_R307W exm1288710 17 7605781 [T/C] NM_001143990,NM_001143991,NM_001143992,NM_018081 WRAP53,WRAP53,WRAP53,WRAP53 EXON Missense_P359S,Missense_P359S,Missense_P359S,Missense_P359S exm1288713 17 7605865 [T/C] NM_001143990,NM_001143991,NM_001143992,NM_018081 WRAP53,WRAP53,WRAP53,WRAP53 EXON Missense_R387C,Missense_R387C,Missense_R387C,Missense_R387C exm1288716 17 7606119 [A/G] NM_001143990,NM_001143991,NM_001143992,NM_018081 WRAP53,WRAP53,WRAP53,WRAP53 EXON Missense_G408D,Missense_G408D,Missense_G408D,Missense_G408D exm1288741 17 7606722 [G/C] NM_001143990,NM_001143991,NM_001143992,NM_018081 WRAP53,WRAP53,WRAP53,WRAP53 EXON Missense_A522G,Missense_A522G,Missense_A522G,Missense_A522G exm1288744 17 7606763 [A/G] NM_001143990,NM_001143991,NM_001143992,NM_018081 WRAP53,WRAP53,WRAP53,WRAP53 EXON Missense_G536R,Missense_G536R,Missense_G536R,Missense_G536R exm1288750 17 7608992 [T/G] NM_001406 EFNB3 EXON Missense_S26A exm1288780 17 7612788 [A/C] NM_001406 EFNB3 EXON Missense_P306H exm2227327 17 7612854 [A/G] NM_001406 EFNB3 EXON Missense_G328E exm1288787 17 7623092 [T/C] NM_020877 DNAH2 EXON Nonsense_R14X exm-rs16956936 17 7633692 [T/C] NM_020877 DNAH2 Silent exm1288821 17 7636610 [A/C] NM_020877 DNAH2 EXON Missense_H202P exm1288825 17 7637789 [T/C] NM_020877 DNAH2 EXON Synonymous_T247T exm1288826 17 7637795 [A/G] NM_020877 DNAH2 EXON Missense_M249I exm1288829 17 7637838 [G/C] NM_020877 DNAH2 EXON Missense_E264Q exm1288833 17 7637938 [A/G] NM_020877 DNAH2 EXON Missense_K297R exm1288836 17 7637983 [T/C] NM_020877 DNAH2 EXON Missense_S312L exm1288837 17 7637995 [T/C] NM_020877 DNAH2 EXON Missense_A316V exm1288849 17 7643057 [A/G] NM_020877 DNAH2 EXON Missense_D393N exm2253250 17 7643152 [A/G] NM_020877 DNAH2 EXON Synonymous_L424L exm2253251 17 7643200 [T/C] NM_020877 DNAH2 EXON Synonymous_A440A exm1288860 17 7643247 [A/C] NM_020877 DNAH2 EXON Missense_D456A exm1288866 17 7644167 [T/C] NM_020877 DNAH2 EXON Missense_Y516H exm1288877 17 7646363 [A/G] NM_020877 DNAH2 EXON Missense_T603A exm1288881 17 7646429 [A/G] NM_020877 DNAH2 EXON Missense_K625E exm1288894 17 7661877 [A/C] NM_020877 DNAH2 EXON Missense_K706Q exm1288897 17 7661944 [T/C] NM_020877 DNAH2 EXON Missense_T728M exm1903835 17 7662434 [A/G] NM_020877 DNAH2 EXON Missense_G814S exm1288910 17 7662437 [T/C] NM_020877 DNAH2 EXON Missense_P815S exm1288912 17 7662800 [T/C] NM_020877 DNAH2 EXON Missense_R837C exm1288918 17 7663119 [T/C] NM_020877 DNAH2 EXON Missense_S883L exm1288923 17 7663220 [T/C] NM_020877 DNAH2 EXON Missense_R917C exm1288927 17 7664154 [T/C] NM_020877 DNAH2 EXON Missense_M961T exm1288939 17 7667277 [T/C] NM_020877 DNAH2 EXON Missense_A1036V exm1288946 17 7667342 [A/G] NM_020877 DNAH2 EXON Missense_A1058T exm1288949 17 7667491 [A/G] NM_020877 DNAH2 EXON Missense_D1079G exm1288955 17 7667554 [T/C] NM_020877 DNAH2 EXON Missense_A1100V exm1288962 17 7668854 [T/A] NM_020877 DNAH2 EXON Missense_H1161L exm1288973 17 7669761 [A/G] NM_020877 DNAH2 EXON Missense_E1213K exm1288977 17 7671251 [A/G] NM_020877 DNAH2 EXON Missense_A1237T exm1288980 17 7671294 [A/G] NM_020877 DNAH2 EXON Missense_R1251Q exm1288982 17 7671312 [T/C] NM_020877 DNAH2 EXON Missense_T1257M exm1288986 17 7671351 [A/G] NM_020877 DNAH2 EXON Missense_R1270H exm1288990 17 7671542 [T/A] NM_020877 DNAH2 EXON Missense_M1300L exm1288992 17 7671563 [T/C] NM_020877 DNAH2 EXON Missense_R1307W exm1288994 17 7673605 [A/G] NM_020877 DNAH2 EXON Missense_E1326G exm1289004 17 7673930 [A/G] NM_020877 DNAH2 EXON Missense_Y1385C exm1289010 17 7674139 [A/G] NM_020877 DNAH2 EXON Missense_R1417H exm1289012 17 7674160 [A/G] NM_020877 DNAH2 EXON Missense_K1424R exm1289022 17 7674655 [T/G] NM_020877 DNAH2 EXON Missense_F1457C exm1289031 17 7674784 [T/C] NM_020877 DNAH2 EXON Missense_P1500L exm1289032 17 7678085 [A/G] NM_020877 DNAH2 EXON Missense_D1504N exm1289049 17 7678652 [T/C] NM_020877 DNAH2 EXON Missense_P1605S exm1289055 17 7679396 [T/C] NM_020877 DNAH2 EXON Missense_R1626W exm1289059 17 7680118 [A/G] NM_020877 DNAH2 EXON Missense_I1657V exm1289062 17 7680158 [T/C] NM_020877 DNAH2 EXON Missense_A1670V exm2227362 17 7680188 [A/C] NM_020877 DNAH2 EXON Missense_K1680T exm1289069 17 7680831 [T/C] NM_020877 DNAH2 EXON Missense_I1709T exm1289075 17 7680912 [T/C] NM_020877 DNAH2 EXON Missense_S1736F exm1289085 17 7681492 [T/C] NM_020877 DNAH2 EXON Missense_T1782M exm1904003 17 7681731 [T/G] NM_020877 DNAH2 EXON Missense_C1829G exm1289098 17 7682604 [T/C] NM_020877 DNAH2 EXON Missense_I1862T exm1289116 17 7684083 [A/G] NM_020877 DNAH2 EXON Missense_D1996N exm1289124 17 7684442 [A/C] NM_020877 DNAH2 EXON Missense_D2029A exm1289131 17 7689538 [T/C] NM_020877 DNAH2 EXON Missense_S2076P exm1289135 17 7689595 [T/C] NM_020877 DNAH2 EXON Missense_R2095C exm1289153 17 7691202 [A/G] NM_020877 DNAH2 EXON Missense_D2210N exm1289154 17 7691215 [T/C] NM_020877 DNAH2 EXON Missense_A2214V exm1289155 17 7691221 [T/C] NM_020877 DNAH2 EXON Missense_P2216L exm2227368 17 7691447 [A/G] NM_020877 DNAH2 EXON Missense_N2262S exm2253259 17 7691505 [T/C] NM_020877 DNAH2 EXON Synonymous_Y2281Y exm1289186 17 7695994 [A/G] NM_020877 DNAH2 EXON Missense_M2389V exm1289190 17 7696082 [T/A] NM_020877 DNAH2 EXON Missense_V2418E exm1289199 17 7696363 [A/G] NM_020877 DNAH2 EXON Missense_Y2470C exm1289200 17 7696365 [A/G] NM_020877 DNAH2 EXON Missense_V2471M exm1289213 17 7697645 [A/G] NM_020877 DNAH2 EXON Missense_R2548H exm2253262 17 7698599 [A/G] NM_020877 DNAH2 Silent exm1904141 17 7699911 [T/C] NM_020877 DNAH2 EXON Missense_R2602C exm1289234 17 7700803 [A/C] NM_020877 DNAH2 EXON Missense_L2679I exm1289235 17 7700831 [A/G] NM_020877 DNAH2 EXON Missense_K2688R exm1289244 17 7701508 [A/G] NM_020877 DNAH2 EXON Missense_R2755Q exm1289245 17 7701525 [A/G] NM_020877 DNAH2 EXON Missense_V2761M exm1289257 17 7701894 [A/G] NM_020877 DNAH2 EXON Missense_R2806H exm1289275 17 7704910 [A/G] NM_020877 DNAH2 EXON Missense_Q2905R exm1904185 17 7707605 [A/G] NM_020877 DNAH2 EXON Missense_A3002T exm1904249 17 7710554 [A/G] NM_020877 DNAH2 EXON Missense_A3177T exm1289307 17 7710561 [G/C] NM_020877 DNAH2 EXON Missense_P3179R exm1289323 17 7720010 [T/C] NM_020877 DNAH2 EXON Missense_S3284L exm1289356 17 7721294 [A/G] NM_020877 DNAH2 EXON Missense_D3423N exm1289359 17 7721315 [A/C] NM_020877 DNAH2 EXON Missense_H3430N exm1289387 17 7722251 [T/C] NM_020877 DNAH2 EXON Missense_A3562V exm1289389 17 7722256 [A/G] NM_020877 DNAH2 EXON Missense_G3564S exm1289400 17 7722533 [T/C] NM_020877 DNAH2 EXON Missense_R3608C exm2274899 17 7722595 [C/G] NM_020877 DNAH2 EXON Missense_D3628E exm1289407 17 7722663 [A/G] NM_020877 DNAH2 EXON Missense_R3651H exm1289412 17 7724565 [A/C] NM_020877 DNAH2 EXON Missense_T3674P exm1289414 17 7724587 [A/G] NM_020877 DNAH2 EXON Missense_R3681H exm1289423 17 7726892 [T/C] NM_020877 DNAH2 EXON Missense_R3759C exm1289441 17 7727532 [A/G] NM_020877 DNAH2 EXON Missense_M3858V exm1904320 17 7727934 [T/G] NM_020877 DNAH2 EXON Missense_Q3914H exm1289451 17 7727959 [T/C] NM_020877 DNAH2 EXON Missense_R3923C exm1289455 17 7733663 [T/C] NM_020877 DNAH2 EXON Missense_P3967S exm1289466 17 7733995 [A/G] NM_020877 DNAH2 EXON Missense_S4022N exm1289469 17 7734058 [T/G] NM_020877 DNAH2 EXON Missense_I4043S exm1289472 17 7734096 [T/C] NM_020877 DNAH2 EXON Missense_R4056C exm1289474 17 7734114 [A/C] NM_020877 DNAH2 EXON Missense_I4062L exm1289478 17 7734404 [A/G] NM_020877 DNAH2 EXON Synonymous_R4077R exm1289485 17 7734723 [A/G] NM_020877 DNAH2 EXON Missense_A4159T exm1289493 17 7735058 [A/G] NM_020877 DNAH2 EXON Missense_I4231V exm1289494 17 7735063 [T/G] NM_020877 DNAH2 EXON Missense_F4232L exm1289500 17 7735934 [A/G] NM_020877 DNAH2 EXON Missense_R4255Q exm1289537 17 7749407 [T/C] NM_001080424 KDM6B EXON Missense_P83L exm1289548 17 7749595 [T/C] NM_001080424 KDM6B EXON Missense_R146C exm1289563 17 7749972 [T/G] NM_001080424 KDM6B EXON Missense_V209L exm1289565 17 7750010 [C/G] NM_001080424 KDM6B EXON Missense_E221D exm1289572 17 7750165 [T/C] NM_001080424 KDM6B EXON Missense_P247L exm1289587 17 7750436 [T/C] NM_001080424 KDM6B EXON Missense_S308L exm1289591 17 7750495 [T/C] NM_001080424 KDM6B EXON Missense_R328W exm1289597 17 7750633 [A/G] NM_001080424 KDM6B EXON Missense_V374I exm1289600 17 7750670 [T/C] NM_001080424 KDM6B EXON Missense_A386V exm1289607 17 7750903 [T/C] NM_001080424 KDM6B EXON Missense_S433P exm1289612 17 7750936 [A/G] NM_001080424 KDM6B EXON Missense_S444G exm1289628 17 7751138 [A/C] NM_001080424 KDM6B EXON Missense_P511H exm1289645 17 7751491 [T/C] NM_001080424 KDM6B EXON Missense_R629W exm1289650 17 7751597 [T/C] NM_001080424 KDM6B EXON Missense_P664L exm1289668 17 7751846 [T/C] NM_001080424 KDM6B EXON Missense_P747L exm1289703 17 7752394 [T/C] NM_001080424 KDM6B EXON Missense_R930W exm2253269 17 7752471 [T/C] NM_001080424 KDM6B EXON Synonymous_P955P exm1289715 17 7752523 [A/C] NM_001080424 KDM6B EXON Missense_K973Q exm1289716 17 7752549 [C/G] NM_001080424 KDM6B EXON Missense_K981N exm1289735 17 7752854 [G/C] NM_001080424 KDM6B EXON Missense_G1083A exm1289737 17 7752883 [T/C] NM_001080424 KDM6B EXON Missense_R1093C exm1289788 17 7755814 [G/C] NM_001080424 KDM6B EXON Synonymous_A1490A exm1289814 17 7758483 [A/G] NM_203411 TMEM88 EXON Missense_V31I exm1904443 17 7758532 [T/G] NM_203411 TMEM88 EXON Missense_V47G exm1289817 17 7758564 [A/G] NM_203411 TMEM88 EXON Missense_V58I exm1289818 17 7758588 [G/C] NM_203411 TMEM88 EXON Missense_L66V exm1289823 17 7758769 [C/G] NM_203411 TMEM88 EXON Missense_R73G exm1289837 17 7758973 [G/C] NM_203411 TMEM88 EXON Missense_Q141E exm2274900 17 7760054 [A/G] NM_032356 LSMD1 EXON Missense_L173F exm1289842 17 7760074 [T/C] NM_032356 LSMD1 EXON Missense_S166N exm1289843 17 7760158 [T/G] NM_032356 LSMD1 EXON Missense_S138Y exm2253270 17 7760681 [A/G] NM_032356 LSMD1 EXON Synonymous_L21L exm1289863 17 7760704 [A/G] NM_032356 LSMD1 EXON Missense_L13P exm1289870 17 7761466 [A/G] NM_144607 CYB5D1 EXON Missense_G5D exm1289873 17 7761512 [A/C] NM_144607 CYB5D1 EXON Missense_F20L exm1289883 17 7761798 [G/C] NM_144607 CYB5D1 Silent exm1289890 17 7762063 [A/G] NM_144607 CYB5D1 EXON Missense_Y126C exm1289891 17 7762102 [A/G] NM_144607 CYB5D1 EXON Missense_R139H exm1289894 17 7762718 [A/C] NM_144607 CYB5D1 EXON Missense_I159L exm1289899 17 7762859 [T/C] NM_144607 CYB5D1 EXON Missense_L206F exm1289906 17 7762928 [T/C] NM_144607 CYB5D1 EXON Missense_X229Q exm1289919 17 7792385 [T/C] NM_001005271,NM_005852,NM_001005273 CHD3,CHD3,CHD3 EXON Silent,Missense_P23S,Missense_P23S exm1289928 17 7793998 [A/G] NM_001005271,NM_005852,NM_001005273 CHD3,CHD3,CHD3 EXON Missense_R167Q,Missense_R108Q,Missense_R108Q exm1289931 17 7794294 [A/G] NM_001005271,NM_005852,NM_001005273 CHD3,CHD3,CHD3 EXON Missense_T200A,Missense_T141A,Missense_T141A exm2253273 17 7796805 [C/G] NM_001005271,NM_005852,NM_001005273 CHD3,CHD3,CHD3 EXON Synonymous_S296S,Synonymous_S237S,Synonymous_S237S exm1289948 17 7797171 [A/G] NM_001005271,NM_005852,NM_001005273 CHD3,CHD3,CHD3 EXON Missense_R340H,Missense_R281H,Missense_R281H exm1904641 17 7797190 [T/G] NM_001005271,NM_005852,NM_001005273 CHD3,CHD3,CHD3 EXON Missense_K346N,Missense_K287N,Missense_K287N exm2227405 17 7797253 [A/G] NM_001005271,NM_005852,NM_001005273 CHD3,CHD3,CHD3 EXON Synonymous_S367S,Synonymous_S308S,Synonymous_S308S exm1289956 17 7797536 [A/G] NM_001005271,NM_005852,NM_001005273 CHD3,CHD3,CHD3 EXON Missense_R402H,Missense_R343H,Missense_R343H exm1289959 17 7797853 [A/G] NM_001005271,NM_005852,NM_001005273 CHD3,CHD3,CHD3 EXON Missense_R458H,Missense_R399H,Missense_R399H exm2253274 17 7798357 [T/C] NM_001005271,NM_005852,NM_001005273 CHD3,CHD3,CHD3 EXON Synonymous_D523D,Synonymous_D464D,Synonymous_D464D exm1289975 17 7798766 [C/G] NM_001005271,NM_005852,NM_001005273 CHD3,CHD3,CHD3 EXON Missense_P597R,Missense_P538R,Missense_P538R exm1290061 17 7809271 [T/G] NM_001005271,NM_005852,NM_001005273 CHD3,CHD3,CHD3 EXON Missense_V1500G,Missense_V1441G,Missense_V1441G exm1290074 17 7810247 [A/G] NM_001005271,NM_005852,NM_001005273 CHD3,CHD3,CHD3 EXON Missense_S1581G,Missense_S1522G,Missense_S1522G exm1290075 17 7810250 [A/G] NM_001005271,NM_005852,NM_001005273 CHD3,CHD3,CHD3 EXON Missense_A1582T,Missense_A1523T,Missense_A1523T exm1290084 17 7810520 [A/C] NM_001005271,NM_005852,NM_001005273 CHD3,CHD3,CHD3 EXON Missense_E1640D,Missense_E1581D,Missense_E1581D exm2227418 17 7810752 [T/G] NM_001005271,NM_005852,NM_001005273 CHD3,CHD3,CHD3 EXON Missense_V1683L,Missense_V1624L,Missense_V1624L exm1290100 17 7811230 [A/G] NM_001005271,NM_005852,NM_001005273 CHD3,CHD3,CHD3 EXON Missense_R1741Q,Missense_R1648Q,Missense_R1682Q exm1290129 17 7814243 [A/G] NM_001005271,NM_005852,NM_001005273 CHD3,CHD3,CHD3 EXON Missense_A2004T,Missense_A1911T,Missense_A1945T exm1290160 17 7827109 [G/C] NM_004732 KCNAB3 EXON Missense_G323A exm1290161 17 7827285 [A/C] NM_004732 KCNAB3 Silent exm2227433 17 7827286 [T/C] NM_004732 KCNAB3 EXON Synonymous_K309K exm1290166 17 7827341 [A/G] NM_004732 KCNAB3 EXON Missense_L291P exm1290170 17 7827555 [T/C] NM_004732 KCNAB3 EXON Missense_N247S exm1290177 17 7828419 [T/C] NM_004732 KCNAB3 EXON Missense_M207I exm1290179 17 7828463 [T/C] NM_004732 KCNAB3 EXON Missense_V193M exm1290182 17 7829031 [A/G] NM_004732 KCNAB3 EXON Nonsense_R170X exm2227436 17 7829380 [T/C] NM_004732 KCNAB3 EXON Nonsense_W149X exm1290205 17 7831122 [A/G] NM_004732 KCNAB3 EXON Missense_R89W exm1290221 17 7833977 [A/G] NR_030697,NM_021210,NR_030684,NM_001166621 TRAPPC1,TRAPPC1,TRAPPC1,TRAPPC1 EXON Silent,Nonsense_R129X,Silent,Nonsense_R129X exm1290239 17 7836399 [T/G] NM_001037144,NM_053051 CNTROB,CNTROB EXON Missense_M1R,Missense_M1R exm1290252 17 7837540 [T/C] NM_001037144,NM_053051 CNTROB,CNTROB EXON Missense_R119W,Missense_R119W exm1290255 17 7837794 [A/C] NM_001037144,NM_053051 CNTROB,CNTROB EXON Missense_I123L,Missense_I123L exm1290256 17 7837819 [A/G] NM_001037144,NM_053051 CNTROB,CNTROB EXON Missense_R131Q,Missense_R131Q exm1290257 17 7837861 [T/C] NM_001037144,NM_053051 CNTROB,CNTROB EXON Missense_L145P,Missense_L145P exm1290260 17 7838371 [T/C] NM_001037144,NM_053051 CNTROB,CNTROB EXON Missense_R168C,Missense_R168C exm1290268 17 7838408 [A/C] NM_001037144,NM_053051 CNTROB,CNTROB EXON Missense_P180H,Missense_P180H exm1290273 17 7839694 [T/G] NM_001037144,NM_053051 CNTROB,CNTROB EXON Missense_R202L,Missense_R202L exm1290282 17 7839778 [T/C] NM_001037144,NM_053051 CNTROB,CNTROB EXON Missense_T230I,Missense_T230I exm1290285 17 7840065 [A/G] NM_001037144,NM_053051 CNTROB,CNTROB EXON Missense_R253Q,Missense_R253Q exm1290290 17 7840531 [A/G] NM_001037144,NM_053051 CNTROB,CNTROB EXON Missense_N293S,Missense_N293S exm1290291 17 7840533 [T/C] NM_001037144,NM_053051 CNTROB,CNTROB EXON Missense_R294C,Missense_R294C exm1290296 17 7842880 [A/G] NM_001037144,NM_053051 CNTROB,CNTROB EXON Missense_R326Q,Missense_R326Q exm1290299 17 7842957 [T/C] NM_001037144,NM_053051 CNTROB,CNTROB EXON Missense_R352W,Missense_R352W exm1290300 17 7842958 [A/G] NM_001037144,NM_053051 CNTROB,CNTROB EXON Missense_R352Q,Missense_R352Q exm1290303 17 7843027 [T/C] NM_001037144,NM_053051 CNTROB,CNTROB EXON Missense_A375V,Missense_A375V exm1290313 17 7846713 [A/G] NM_001037144,NM_053051 CNTROB,CNTROB EXON Missense_R439Q,Missense_R439Q exm1290319 17 7846836 [T/A] NM_001037144,NM_053051 CNTROB,CNTROB EXON Missense_H480L,Missense_H480L exm1290323 17 7847532 [T/C] NM_001037144,NM_053051 CNTROB,CNTROB EXON Missense_R513W,Missense_R513W exm1290327 17 7847814 [A/G] NM_001037144,NM_053051 CNTROB,CNTROB EXON Missense_R531Q,Missense_R531Q exm1290333 17 7847940 [T/C] NM_001037144,NM_053051 CNTROB,CNTROB EXON Missense_P573L,Missense_P573L exm1290334 17 7847955 [A/C] NM_001037144,NM_053051 CNTROB,CNTROB EXON Missense_P578Q,Missense_P578Q exm1290343 17 7849130 [A/G] NM_001037144,NM_053051 CNTROB,CNTROB EXON Missense_V607M,Missense_V607M exm1290352 17 7850976 [A/G] NM_001037144,NM_053051 CNTROB,CNTROB EXON Missense_E694G,Missense_E694G exm1290353 17 7851000 [T/C] NM_001037144,NM_053051 CNTROB,CNTROB EXON Missense_P702L,Missense_P702L exm1290388 17 7852817 [A/G] NM_001037144,NM_053051 CNTROB,CNTROB EXON Missense_V923I,Missense_V901I exm1290403 17 7907178 [A/C] NM_000180 GUCY2D EXON Missense_M244L exm1290420 17 7907439 [A/C] NM_000180 GUCY2D EXON Missense_R331S exm1290426 17 7909735 [A/G] NM_000180 GUCY2D EXON Missense_V361M exm1290427 17 7909747 [T/C] NM_000180 GUCY2D EXON Missense_R365W exm2227451 17 7909792 [T/C] NM_000180 GUCY2D EXON Missense_R380C exm1290443 17 7909969 [A/G] NM_000180 GUCY2D EXON Missense_G439R exm1290455 17 7910779 [T/C] NM_000180 GUCY2D EXON Missense_P500L exm1290459 17 7910817 [T/C] NM_000180 GUCY2D EXON Missense_L513F exm1290462 17 7911306 [A/G] NM_000180 GUCY2D EXON Missense_G542S exm1290467 17 7912879 [T/C] NM_000180 GUCY2D EXON Missense_P575L exm1290478 17 7915790 [A/G] NM_000180 GUCY2D EXON Missense_R660Q exm1290479 17 7915795 [A/G] NM_000180 GUCY2D EXON Missense_V662M exm1290486 17 7915912 [T/C] NM_000180 GUCY2D EXON Missense_P701S exm1290495 17 7916471 [T/C] NM_000180 GUCY2D EXON Missense_R722W exm1290498 17 7916486 [A/G] NM_000180 GUCY2D EXON Missense_G727S exm1290504 17 7917215 [T/C] NM_000180 GUCY2D EXON Missense_R761W exm1290507 17 7917252 [T/C] NM_000180 GUCY2D EXON Missense_M773T exm1290510 17 7917279 [A/T] NM_000180 GUCY2D EXON Missense_L782H exm1290524 17 7918177 [T/G] NM_000180 GUCY2D EXON Synonymous_P859P exm1290533 17 7918793 [T/G] NM_000180 GUCY2D EXON Missense_V973L exm1290542 17 7919130 [T/C] NM_000180 GUCY2D EXON Missense_T1005I exm1290543 17 7919158 [A/G] NM_000180 GUCY2D EXON Synonymous_L1014L exm1290549 17 7919299 [T/C] NM_000180 GUCY2D EXON Missense_S1033L exm1290566 17 7942516 [A/G] NM_001039130,NM_001141,NM_001039131 ALOX15B,ALOX15B,ALOX15B EXON Missense_G15R,Missense_G15R,Missense_G15R exm1290587 17 7945725 [A/G] NM_001039130,NM_001141,NM_001039131 ALOX15B,ALOX15B,ALOX15B EXON Missense_D163G,Missense_D163G,Missense_D163G exm1290600 17 7948225 [A/G] NM_001039130,NM_001141,NM_001039131 ALOX15B,ALOX15B,ALOX15B EXON Missense_R252H,Missense_R252H,Missense_R252H exm1290602 17 7948239 [T/C] NM_001039130,NM_001141,NM_001039131 ALOX15B,ALOX15B,ALOX15B EXON Missense_L257F,Missense_L257F,Missense_L257F exm1906092 17 7948257 [T/G] NM_001039130,NM_001141,NM_001039131 ALOX15B,ALOX15B,ALOX15B EXON Missense_V263F,Missense_V263F,Missense_V263F exm1290608 17 7948632 [T/C] NM_001039130,NM_001141,NM_001039131 ALOX15B,ALOX15B,ALOX15B EXON Missense_F309S,Missense_F309S,Missense_F309S exm1290609 17 7948638 [T/C] NM_001039130,NM_001141,NM_001039131 ALOX15B,ALOX15B,ALOX15B EXON Missense_A311V,Missense_A311V,Missense_A311V exm1290610 17 7948640 [T/G] NM_001039130,NM_001141,NM_001039131 ALOX15B,ALOX15B,ALOX15B EXON Missense_A312S,Missense_A312S,Missense_A312S exm1290613 17 7948694 [A/G] NM_001039130,NM_001141,NM_001039131 ALOX15B,ALOX15B,ALOX15B EXON Missense_A330T,Missense_A330T,Missense_A330T exm1290617 17 7948886 [A/G] NM_001039130,NM_001141,NM_001039131 ALOX15B,ALOX15B,ALOX15B EXON Missense_R361H,Missense_R361H,Missense_R361H exm1290618 17 7948958 [A/C] NM_001039130,NM_001141,NM_001039131 ALOX15B,ALOX15B,ALOX15B EXON Missense_T385N,Missense_T385N,Missense_T385N exm1906119 17 7950034 [A/C] NM_001039130,NM_001141,NM_001039131 ALOX15B,ALOX15B,ALOX15B EXON Silent,Synonymous_R417R,Silent exm1290627 17 7950237 [A/G] NM_001039130,NM_001141,NM_001039131 ALOX15B,ALOX15B,ALOX15B EXON Missense_G405S,Missense_G434S,Missense_G405S exm1290628 17 7950265 [A/G] NM_001039130,NM_001141,NM_001039131 ALOX15B,ALOX15B,ALOX15B EXON Missense_Q414R,Missense_Q443R,Missense_Q414R exm1290631 17 7950319 [A/G] NM_001039130,NM_001141,NM_001039131 ALOX15B,ALOX15B,ALOX15B EXON Missense_R432Q,Missense_R461Q,Missense_R432Q exm1290632 17 7950324 [T/C] NM_001039130,NM_001141,NM_001039131 ALOX15B,ALOX15B,ALOX15B EXON Nonsense_R434X,Nonsense_R463X,Nonsense_R434X exm1290633 17 7950325 [A/G] NM_001039130,NM_001141,NM_001039131 ALOX15B,ALOX15B,ALOX15B EXON Missense_R434Q,Missense_R463Q,Missense_R434Q exm1290635 17 7950394 [A/G] NM_001039130,NM_001141,NM_001039131 ALOX15B,ALOX15B,ALOX15B EXON Missense_R457H,Missense_R486H,Silent exm1290639 17 7950595 [A/G] NM_001039130,NM_001141,NM_001039131 ALOX15B,ALOX15B,ALOX15B EXON Missense_G464S,Missense_G493S,Silent exm1290641 17 7950643 [T/C] NM_001039130,NM_001141,NM_001039131 ALOX15B,ALOX15B,ALOX15B EXON Nonsense_Q480X,Nonsense_Q509X,Silent exm1906132 17 7950661 [T/A] NM_001039130,NM_001141,NM_001039131 ALOX15B,ALOX15B,ALOX15B EXON Missense_I486F,Missense_I515F,Silent exm1290643 17 7950692 [A/G] NM_001039130,NM_001141,NM_001039131 ALOX15B,ALOX15B,ALOX15B EXON Missense_S496N,Missense_S525N,Silent exm1906171 17 7951780 [A/G] NM_001039130,NM_001141,NM_001039131 ALOX15B,ALOX15B,ALOX15B EXON Missense_R614H,Missense_R643H,Missense_R569H exm1290669 17 7951819 [A/G] NM_001039130,NM_001141,NM_001039131 ALOX15B,ALOX15B,ALOX15B EXON Missense_Q627R,Missense_Q656R,Missense_Q582R exm1290670 17 7951822 [A/G] NM_001039130,NM_001141,NM_001039131 ALOX15B,ALOX15B,ALOX15B EXON Missense_G628D,Missense_G657D,Missense_G583D exm2227479 17 7951863 [G/C] NM_001039130,NM_001141,NM_001039131 ALOX15B,ALOX15B,ALOX15B EXON Missense_E642Q,Missense_E671Q,Missense_E597Q exm1290673 17 7951878 [A/G] NM_001039130,NM_001141,NM_001039131 ALOX15B,ALOX15B,ALOX15B EXON Missense_I647V,Missense_I676V,Missense_I602V exm1906449 17 7979002 [A/G] NM_001139 ALOX12B EXON Missense_P522L exm1290711 17 7979631 [A/C] NM_001139 ALOX12B EXON Missense_G465V exm1290716 17 7980007 [T/C] NM_001139 ALOX12B EXON Missense_V444I exm1290722 17 7980354 [A/C] NM_001139 ALOX12B EXON Missense_C410F exm1290767 17 7984203 [T/C] NM_001139 ALOX12B EXON Missense_E176K exm1290772 17 7984478 [A/G] NM_001139 ALOX12B EXON Missense_P127L exm1290773 17 7984479 [A/G] NM_001139 ALOX12B EXON Missense_P127S exm1290779 17 7989402 [T/C] NM_001139 ALOX12B EXON Missense_R95H exm1906694 17 7990614 [T/C] NM_001139 ALOX12B EXON Synonymous_A49A exm1290798 17 7990705 [T/C] NM_001139 ALOX12B EXON Missense_R19Q exm1290807 17 7999967 [A/G] NM_021628,NM_001165960 ALOXE3,ALOXE3 EXON Missense_I705T,Missense_I837T exm1290809 17 8000048 [T/C] NM_021628,NM_001165960 ALOXE3,ALOXE3 EXON Missense_R678H,Missense_R810H exm1290810 17 8000049 [A/G] NM_021628,NM_001165960 ALOXE3,ALOXE3 EXON Missense_R678C,Missense_R810C exm1290818 17 8006708 [A/G] NM_021628,NM_001165960 ALOXE3,ALOXE3 EXON Missense_P630L,Missense_P762L exm1290819 17 8006726 [A/G] NM_021628,NM_001165960 ALOXE3,ALOXE3 EXON Missense_T624I,Missense_T756I exm1290823 17 8006813 [T/C] NM_021628,NM_001165960 ALOXE3,ALOXE3 Silent,Silent exm1290827 17 8007453 [T/C] NM_021628,NM_001165960 ALOXE3,ALOXE3 EXON Missense_A589T,Missense_A721T exm1290832 17 8007512 [T/G] NM_021628,NM_001165960 ALOXE3,ALOXE3 EXON Missense_T569N,Missense_T701N exm1290843 17 8012511 [T/C] NM_021628,NM_001165960 ALOXE3,ALOXE3 EXON Missense_I515V,Missense_I647V exm1290880 17 8015479 [T/C] NM_021628,NM_001165960 ALOXE3,ALOXE3 EXON Missense_R239H,Missense_R371H exm1290881 17 8015486 [A/T] NM_021628,NM_001165960 ALOXE3,ALOXE3 EXON Missense_L237M,Missense_L369M exm1290882 17 8015495 [A/G] NM_021628,NM_001165960 ALOXE3,ALOXE3 EXON Nonsense_R234X,Nonsense_R366X exm1290886 17 8017802 [A/G] NM_021628,NM_001165960 ALOXE3,ALOXE3 EXON Missense_A227V,Missense_A359V exm1290888 17 8017832 [A/G] NM_021628,NM_001165960 ALOXE3,ALOXE3 EXON Missense_T217M,Missense_T349M exm1290894 17 8017889 [A/G] NM_021628,NM_001165960 ALOXE3,ALOXE3 EXON Missense_I198T,Missense_I330T exm1290899 17 8018296 [T/C] NM_021628,NM_001165960 ALOXE3,ALOXE3 EXON Missense_A172T,Missense_A304T exm1290905 17 8018361 [T/G] NM_021628,NM_001165960 ALOXE3,ALOXE3 EXON Missense_A150D,Missense_A282D exm1290910 17 8018994 [A/C] NM_021628,NM_001165960 ALOXE3,ALOXE3 EXON Missense_C122F,Missense_C254F exm1290935 17 8021608 [G/C] NM_021628,NM_001165960 ALOXE3,ALOXE3 EXON Silent,Missense_P33A exm1290940 17 8022065 [A/G] NM_001165960 ALOXE3 EXON Missense_P11L exm1290985 17 8045136 [A/G] NM_002616 PER1 EXON Missense_A1196V exm1907473 17 8045140 [A/G] NM_002616 PER1 EXON Missense_R1195W exm1907474 17 8045190 [T/C] NM_002616 PER1 EXON Missense_R1178Q exm1290994 17 8045239 [A/G] NM_002616 PER1 EXON Missense_R1162W exm2276482 17 8045714 [A/C] NM_002616 PER1 EXON Missense_A1108S exm1291013 17 8046093 [T/G] NM_002616 PER1 EXON Missense_L1045I exm1291016 17 8046147 [T/C] NM_002616 PER1 EXON Missense_V1027I exm1291022 17 8046664 [T/C] NM_002616 PER1 EXON Missense_A998T exm2227542 17 8046750 [A/G] NM_002616 PER1 EXON Missense_P969L exm1291028 17 8046751 [C/G] NM_002616 PER1 EXON Missense_P969A exm1291029 17 8046753 [T/C] NM_002616 PER1 EXON Missense_R968H exm1291031 17 8046768 [A/G] NM_002616 PER1 EXON Missense_P963L exm1291047 17 8047081 [A/G] NM_002616 PER1 EXON Missense_P859S exm1291053 17 8047177 [T/C] NM_002616 PER1 EXON Missense_A827T exm1291088 17 8049922 [T/C] NM_002616 PER1 EXON Missense_S633G exm1291104 17 8050242 [A/G] NM_002616 PER1 EXON Missense_R570W exm1291119 17 8050992 [T/G] NM_002616 PER1 EXON Missense_T463K exm1291122 17 8051031 [T/C] NM_002616 PER1 EXON Missense_R450H exm1291143 17 8052024 [T/C] NM_002616 PER1 EXON Missense_D329G exm1291145 17 8052076 [A/G] NM_002616 PER1 EXON Missense_R312W exm1291150 17 8052595 [G/C] NM_002616 PER1 EXON Missense_S296C exm1291157 17 8052896 [T/C] NM_002616 PER1 EXON Missense_R246Q exm1291158 17 8052915 [T/C] NM_002616 PER1 EXON Missense_V240I exm1291172 17 8053153 [T/C] NM_002616 PER1 EXON Missense_E191K exm1291182 17 8053358 [A/G] NM_002616 PER1 EXON Missense_R154W exm2227544 17 8053391 [A/G] NM_002616 PER1 EXON Nonsense_R143X exm1291189 17 8053861 [T/C] NM_002616 PER1 EXON Missense_N55S exm1291196 17 8053916 [A/G] NM_002616 PER1 EXON Missense_P37S exm1291226 17 8065608 [T/C] NM_014232 VAMP2 EXON Missense_S28G exm1907913 17 8092495 [T/G] NM_017622 C17orf59 EXON Missense_L322M exm1291366 17 8092951 [T/C] NM_017622 C17orf59 EXON Missense_D170N exm1291377 17 8093324 [G/C] NM_017622 C17orf59 EXON Missense_E45D exm1291388 17 8108331 [A/G] NM_001256834,NM_004217 AURKB,AURKB EXON Missense_M257T,Missense_M298T exm1291393 17 8108545 [A/G] NM_001256834,NM_004217 AURKB,AURKB EXON Missense_R243C,Missense_R284C exm1291400 17 8109861 [G/C] NM_001256834,NM_004217 AURKB,AURKB EXON Missense_G171R,Missense_G212R exm1291405 17 8110079 [A/G] NM_001256834,NM_004217 AURKB,AURKB EXON Nonsense_R135X,Nonsense_R176X exm1291410 17 8110136 [T/C] NM_001256834,NM_004217 AURKB,AURKB EXON Missense_A116T,Missense_A157T exm1291411 17 8110166 [A/G] NM_001256834,NM_004217 AURKB,AURKB EXON Missense_R106W,Missense_R147W exm1291415 17 8110585 [T/C] NM_001256834,NM_004217 AURKB,AURKB EXON Missense_V62M,Missense_V103M exm1291421 17 8110921 [T/C] NM_001256834,NM_004217 AURKB,AURKB EXON Missense_M17I,Missense_M58I exm1291422 17 8110940 [A/G] NM_001256834,NM_004217 AURKB,AURKB EXON Missense_A11V,Missense_A52V exm1291438 17 8131548 [A/G] NM_025099,NR_046431 CTC1,CTC1 EXON Nonsense_R1202X,Silent exm1291449 17 8132185 [T/C] NM_025099,NR_046431 CTC1,CTC1 EXON Missense_E1083K,Silent exm2274901 17 8132702 [A/G] NM_025099,NR_046431 CTC1,CTC1 EXON Missense_A1025V,Silent exm1291460 17 8132763 [T/C] NM_025099,NR_046431 CTC1,CTC1 EXON Missense_I1005V,Silent exm1291462 17 8133261 [A/G] NM_025099,NR_046431 CTC1,CTC1 EXON Missense_R987W,Silent exm1291463 17 8133649 [A/G] NM_025099,NR_046431 CTC1,CTC1 EXON Missense_R966W,Silent exm1291468 17 8133902 [T/C] NM_025099,NR_046431 CTC1,CTC1 EXON Missense_A913T,Silent exm1291480 17 8135061 [T/C] NM_025099,NR_046431 CTC1,CTC1 EXON Missense_I820V,Silent exm1291483 17 8135112 [A/C] NM_025099,NR_046431 CTC1,CTC1 EXON Missense_S803A,Silent exm1291486 17 8135340 [T/C] NM_025099,NR_046431 CTC1,CTC1 EXON Missense_V756M,Silent exm1291489 17 8135414 [T/C] NM_025099,NR_046431 CTC1,CTC1 EXON Missense_R731Q,Silent exm1291491 17 8135444 [C/G] NM_025099,NR_046431 CTC1,CTC1 EXON Missense_G721A,Silent exm1291493 17 8135452 [T/A] NM_025099,NR_046431 CTC1,CTC1 EXON Missense_D718E,Silent exm1291498 17 8135745 [A/C] NM_025099,NR_046431 CTC1,CTC1 EXON Missense_V665G,Silent exm1291499 17 8135782 [A/G] NM_025099,NR_046431 CTC1,CTC1 EXON Missense_R653W,Silent exm1291516 17 8138120 [A/G] NM_025099,NR_046431 CTC1,CTC1 EXON Missense_R522W,Silent exm1291529 17 8138477 [A/G] NM_025099,NR_046431 CTC1,CTC1 EXON Missense_R445C,Silent exm1291531 17 8138503 [T/C] NM_025099,NR_046431 CTC1,CTC1 EXON Missense_R436H,Silent exm1291535 17 8138569 [G/C] NM_025099,NR_046431 CTC1,CTC1 EXON Missense_G414A,Silent exm1291548 17 8139428 [T/C] NM_025099,NR_046431 CTC1,CTC1 EXON Missense_D342G,Silent exm1291554 17 8139580 [G/C] NM_025099,NR_046431 CTC1,CTC1 EXON Missense_I291M,Silent exm1291559 17 8140790 [T/C] NM_025099,NR_046431 CTC1,CTC1 EXON Missense_R232Q,Silent exm1908033 17 8141440 [C/G] NM_025099,NR_046431 CTC1,CTC1 EXON Missense_V186L,Silent exm1908034 17 8141754 [T/C] NM_025099,NR_046431 CTC1,CTC1 EXON Missense_G131R,Silent exm1291576 17 8141897 [G/C] NM_025099,NR_046431 CTC1,CTC1 EXON Missense_S83T,Silent exm1291579 17 8146306 [T/C] NM_025099,NR_046431 CTC1,CTC1 EXON Missense_Y65C,Silent exm1291582 17 8146350 [T/C] NM_025099,NR_046431 CTC1,CTC1 EXON Nonsense_W50X,Silent exm-rs9912921 17 8149358 [A/G] NM_025099,NR_046431 CTC1,CTC1 Silent,Silent exm1291595 17 8151342 [A/G] NM_025099,NR_046431 CTC1,CTC1 EXON Missense_R5W,Silent exm1291603 17 8157310 [T/C] NM_012393 PFAS EXON Missense_P19S exm1291610 17 8157556 [A/G] NM_012393 PFAS EXON Missense_D72G exm1291618 17 8158391 [T/C] NM_012393 PFAS EXON Missense_R109C exm2274902 17 8158823 [T/G] NM_012393 PFAS EXON Missense_A130S exm1291635 17 8158931 [A/G] NM_012393 PFAS EXON Missense_M166V exm1291639 17 8158983 [T/C] NM_012393 PFAS EXON Missense_A183V exm1291645 17 8159165 [A/G] NM_012393 PFAS EXON Missense_R206H exm1291653 17 8159625 [A/G] NM_012393 PFAS EXON Missense_V241M exm1291667 17 8159955 [A/G] NM_012393 PFAS EXON Missense_N312S exm1291671 17 8160194 [T/C] NM_012393 PFAS EXON Missense_R330W exm1291672 17 8160233 [A/G] NM_012393 PFAS EXON Missense_V343M exm1291675 17 8161131 [A/G] NM_012393 PFAS EXON Missense_N361S exm1291679 17 8161178 [T/C] NM_012393 PFAS EXON Missense_R377W exm1291680 17 8161196 [A/G] NM_012393 PFAS EXON Missense_I383V exm1291693 17 8166297 [A/G] NM_012393 PFAS EXON Missense_A466T exm1291696 17 8166458 [A/T] NM_012393 PFAS EXON Missense_F481Y exm1291710 17 8167106 [T/C] NM_012393 PFAS EXON Missense_T548I exm1291711 17 8167132 [A/G] NM_012393 PFAS EXON Missense_A557T exm1291713 17 8167178 [A/G] NM_012393 PFAS EXON Missense_R572Q exm1291716 17 8167217 [C/G] NM_012393 PFAS EXON Missense_P585R exm1291718 17 8167250 [A/G] NM_012393 PFAS EXON Missense_R596Q exm1291725 17 8167584 [A/G] NM_012393 PFAS EXON Missense_A616T exm1291728 17 8167600 [T/C] NM_012393 PFAS EXON Missense_L621P exm1291737 17 8167851 [A/G] NM_012393 PFAS EXON Missense_V661M exm1291751 17 8168670 [T/C] NM_012393 PFAS EXON Missense_A782V exm1291754 17 8168756 [T/C] NM_012393 PFAS EXON Missense_R811W exm2253319 17 8169223 [T/C] NM_012393 PFAS EXON Synonymous_L863L exm1291766 17 8169224 [C/G] NM_012393 PFAS EXON Missense_G864R exm1291767 17 8169294 [A/G] NM_012393 PFAS EXON Missense_N887S exm1291768 17 8169302 [T/C] NM_012393 PFAS EXON Missense_R890W exm1291777 17 8170349 [T/C] NM_012393 PFAS EXON Missense_R991W exm2274903 17 8170364 [A/G] NM_012393 PFAS EXON Missense_G996R exm1291782 17 8170437 [A/G] NM_012393 PFAS EXON Missense_R1020Q exm1291785 17 8170475 [T/C] NM_012393 PFAS EXON Missense_R1033W exm1291805 17 8170927 [A/G] NM_012393 PFAS EXON Missense_R1109H exm1291810 17 8171907 [T/C] NM_012393 PFAS EXON Missense_R1147W exm1291817 17 8171992 [A/G] NM_012393 PFAS EXON Missense_N1175S exm1291825 17 8172277 [T/G] NM_012393 PFAS EXON Missense_V1238L exm1291829 17 8172372 [G/C] NM_012393 PFAS EXON Missense_Q1269H exm1291833 17 8172506 [T/G] NM_012393 PFAS EXON Missense_F1314C exm1291843 17 8192147 [T/C] NM_201520,NM_001177802,NM_001177801,NM_016492 SLC25A35,RANGRF,RANGRF,RANGRF EXON Silent,Missense_F14S,Missense_F14S,Missense_F14S exm1291844 17 8192158 [T/C] NM_201520,NM_001177802,NM_001177801,NM_016492 SLC25A35,RANGRF,RANGRF,RANGRF EXON Silent,Missense_L18F,Missense_L18F,Missense_L18F exm1291853 17 8192368 [A/G] NM_201520,NM_001177802,NM_001177801,NM_016492 SLC25A35,RANGRF,RANGRF,RANGRF EXON Silent,Missense_V58I,Missense_V58I,Missense_V58I exm1291855 17 8192377 [T/G] NM_201520,NM_001177802,NM_001177801,NM_016492 SLC25A35,RANGRF,RANGRF,RANGRF EXON Silent,Nonsense_E61X,Nonsense_E61X,Nonsense_E61X exm1291864 17 8192833 [A/G] NM_201520,NM_001177802,NM_001177801,NM_016492 SLC25A35,RANGRF,RANGRF,RANGRF EXON Silent,Missense_R151H,Missense_V122M,Missense_V122M exm1291866 17 8192897 [A/G] NM_201520,NM_001177802,NM_001177801,NM_016492 SLC25A35,RANGRF,RANGRF,RANGRF EXON Silent,Silent,Missense_N143S,Missense_N143S exm1291868 17 8192903 [T/C] NM_201520,NM_001177802,NM_001177801,NM_016492 SLC25A35,RANGRF,RANGRF,RANGRF EXON Silent,Silent,Missense_P145L,Missense_P145L exm2253320 17 8193203 [A/G] NM_201520,NM_001177802,NM_001177801,NM_016492 SLC25A35,RANGRF,RANGRF,RANGRF EXON Synonymous_L277L,Silent,Silent,Synonymous_Q170Q exm2227570 17 8193289 [T/C] NM_201520,NM_001177802,NM_001177801,NM_016492 SLC25A35,RANGRF,RANGRF,RANGRF EXON Missense_K248R,Silent,Silent,Silent exm1291893 17 8194713 [T/C] NM_201520 SLC25A35 EXON Missense_V178I exm1291902 17 8195873 [T/C] NM_201520 SLC25A35 EXON Missense_E137K exm1291903 17 8197764 [T/C] NM_201520 SLC25A35 EXON Missense_S121N exm1908197 17 8197966 [A/C] NM_201520 SLC25A35 EXON Missense_G54C exm1291919 17 8198097 [A/G] NM_201520 SLC25A35 EXON Missense_A10V exm1291937 17 8215574 [T/C] NM_173728,NM_025014 ARHGEF15,ARHGEF15 EXON Missense_P73S,Missense_P73S exm1291950 17 8215755 [T/C] NM_173728,NM_025014 ARHGEF15,ARHGEF15 EXON Missense_P133L,Missense_P133L exm1291953 17 8215833 [C/G] NM_173728,NM_025014 ARHGEF15,ARHGEF15 EXON Missense_G159A,Missense_G159A exm1291955 17 8215869 [T/C] NM_173728,NM_025014 ARHGEF15,ARHGEF15 EXON Missense_P171L,Missense_P171L exm2253321 17 8215927 [T/C] NM_173728,NM_025014 ARHGEF15,ARHGEF15 EXON Synonymous_T190T,Synonymous_T190T exm1291965 17 8216290 [T/C] NM_173728,NM_025014 ARHGEF15,ARHGEF15 EXON Missense_R218W,Missense_R218W exm1291973 17 8216437 [T/C] NM_173728,NM_025014 ARHGEF15,ARHGEF15 EXON Missense_R267C,Missense_R267C exm1291977 17 8216468 [T/C] NM_173728,NM_025014 ARHGEF15,ARHGEF15 EXON Missense_L277P,Missense_L277P exm1291983 17 8218279 [G/C] NM_173728,NM_025014 ARHGEF15,ARHGEF15 EXON Missense_D349H,Missense_D349H exm1291990 17 8218585 [T/G] NM_173728,NM_025014 ARHGEF15,ARHGEF15 EXON Missense_R417L,Missense_R417L exm1291996 17 8218882 [A/G] NM_173728,NM_025014 ARHGEF15,ARHGEF15 EXON Missense_V471I,Missense_V471I exm1908223 17 8219113 [A/C] NM_173728,NM_025014 ARHGEF15,ARHGEF15 EXON Missense_H488N,Missense_H488N exm1292003 17 8219399 [C/G] NM_173728,NM_025014 ARHGEF15,ARHGEF15 EXON Missense_R546P,Missense_R546P exm1292031 17 8222682 [T/C] NM_173728,NM_025014 ARHGEF15,ARHGEF15 EXON Missense_C747R,Missense_C747R exm1292039 17 8222870 [T/C] NM_173728,NM_025014 ARHGEF15,ARHGEF15 EXON Missense_R775W,Missense_R775W exm1292043 17 8222913 [A/C] NM_173728,NM_025014 ARHGEF15,ARHGEF15 EXON Missense_T789N,Missense_T789N exm1292047 17 8224248 [G/C] NM_173728,NM_025014 ARHGEF15,ARHGEF15 EXON Missense_Q821H,Missense_Q821H exm1292049 17 8224276 [T/C] NM_173728,NM_025014 ARHGEF15,ARHGEF15 EXON Missense_S831P,Missense_S831P exm1292052 17 8224289 [A/C] NM_173728,NM_025014 ARHGEF15,ARHGEF15 EXON Missense_T835N,Missense_T835N exm1292055 17 8243371 [T/C] NM_153007 ODF4 EXON Missense_M1T exm1292058 17 8243404 [A/G] NM_153007 ODF4 EXON Missense_R12K exm1292060 17 8243449 [A/G] NM_153007 ODF4 EXON Missense_R27K exm1292061 17 8243469 [T/C] NM_153007 ODF4 EXON Missense_W34R exm1292065 17 8243557 [A/C] NM_153007 ODF4 EXON Missense_N63T exm1292068 17 8243598 [T/C] NM_153007 ODF4 EXON Missense_R77C exm1292074 17 8243661 [A/G] NM_153007 ODF4 EXON Missense_V98M exm1292076 17 8243785 [A/G] NM_153007 ODF4 EXON Missense_Y139C exm1292085 17 8248794 [T/C] NM_153007 ODF4 EXON Synonymous_C196C exm1292087 17 8249051 [A/G] NM_153007 ODF4 EXON Missense_V219M exm2227574 17 8249072 [A/G] NM_153007 ODF4 EXON Missense_G226S exm1292088 17 8249103 [T/C] NM_153007 ODF4 EXON Missense_T236M exm1292097 17 8272516 [T/C] NM_213597 KRBA2 EXON Missense_D472G exm1292105 17 8272627 [A/G] NM_213597 KRBA2 EXON Missense_T435M exm1292109 17 8272652 [A/G] NM_213597 KRBA2 EXON Missense_R427W exm1292123 17 8272915 [T/C] NM_213597 KRBA2 EXON Missense_N339S exm1908275 17 8273009 [T/C] NM_213597 KRBA2 EXON Missense_V308I exm1292126 17 8273026 [A/G] NM_213597 KRBA2 EXON Missense_A302V exm1292127 17 8273061 [C/G] NM_213597 KRBA2 EXON Missense_K290N exm1292129 17 8273108 [T/C] NM_213597 KRBA2 EXON Missense_D275N exm1292130 17 8273112 [A/C] NM_213597 KRBA2 EXON Missense_S273R exm1292132 17 8273194 [T/C] NM_213597 KRBA2 EXON Missense_K246R exm1292134 17 8273299 [T/C] NM_213597 KRBA2 EXON Missense_R211H exm1292136 17 8273320 [A/G] NM_213597 KRBA2 EXON Missense_I204T exm1908276 17 8273329 [T/C] NM_213597 KRBA2 EXON Missense_H201R exm1908278 17 8273384 [A/G] NM_213597 KRBA2 EXON Nonsense_R183X exm1292140 17 8273456 [T/C] NM_213597 KRBA2 EXON Missense_A159T exm1292141 17 8273458 [T/C] NM_213597 KRBA2 EXON Missense_R158H exm1292145 17 8273609 [T/C] NM_213597 KRBA2 EXON Missense_M108V exm1292148 17 8273654 [A/G] NM_213597 KRBA2 EXON Missense_P93S exm1292154 17 8274650 [T/C] NM_213597 KRBA2 EXON Missense_S68N exm1292155 17 8274704 [T/C] NM_213597 KRBA2 EXON Nonsense_W50X exm1292157 17 8274755 [T/G] NM_213597 KRBA2 EXON Missense_Q33P exm1292165 17 8285501 [T/C] NM_000987 RPL26 EXON Missense_N43S exm1292198 17 8354143 [C/G] NM_030808,NM_001025579 NDEL1,NDEL1 EXON Missense_T191S,Missense_T191S exm2274904 17 8354245 [T/C] NM_030808,NM_001025579 NDEL1,NDEL1 EXON Missense_T225M,Missense_T225M exm1292202 17 8354259 [C/G] NM_030808,NM_001025579 NDEL1,NDEL1 EXON Missense_P230A,Missense_P230A exm1292209 17 8363402 [T/A] NM_030808,NM_001025579 NDEL1,NDEL1 EXON Missense_N290Y,Missense_N290Y exm1292210 17 8363433 [A/G] NM_030808,NM_001025579 NDEL1,NDEL1 EXON Missense_G300D,Missense_G300D exm1292213 17 8363474 [A/C] NM_030808,NM_001025579 NDEL1,NDEL1 EXON Missense_K314Q,Missense_K314Q exm1292217 17 8370258 [A/G] NM_030808,NM_001025579 NDEL1,NDEL1 EXON Missense_G319S,Silent exm1292220 17 8370327 [T/C] NM_030808,NM_001025579 NDEL1,NDEL1 EXON Missense_P342S,Silent exm2273544 17 8378932 [A/G] NM_001256095,NM_005964,NM_001256012 MYH10,MYH10,MYH10 EXON Silent,Silent,Silent exm1292235 17 8379265 [A/G] NM_001256095,NM_005964,NM_001256012 MYH10,MYH10,MYH10 EXON Missense_R1939W,Missense_R1930W,Missense_R1961W exm1292241 17 8380305 [T/G] NM_001256095,NM_005964,NM_001256012 MYH10,MYH10,MYH10 EXON Missense_E1901A,Missense_E1892A,Missense_E1923A exm1292263 17 8383838 [A/G] NM_001256095,NM_005964,NM_001256012 MYH10,MYH10,MYH10 EXON Missense_A1735V,Missense_A1726V,Missense_A1757V exm1292282 17 8390816 [T/C] NM_001256095,NM_005964,NM_001256012 MYH10,MYH10,MYH10 EXON Missense_E1639K,Missense_E1630K,Missense_E1661K exm1292284 17 8390840 [T/C] NM_001256095,NM_005964,NM_001256012 MYH10,MYH10,MYH10 EXON Missense_M1631V,Missense_M1622V,Missense_M1653V exm1292292 17 8393828 [T/C] NM_001256095,NM_005964,NM_001256012 MYH10,MYH10,MYH10 EXON Missense_V1550M,Missense_V1541M,Missense_V1572M exm1292314 17 8397065 [A/C] NM_001256095,NM_005964,NM_001256012 MYH10,MYH10,MYH10 EXON Missense_A1377S,Missense_A1368S,Missense_A1399S exm1292316 17 8397120 [G/C] NM_001256095,NM_005964,NM_001256012 MYH10,MYH10,MYH10 EXON Missense_Q1358H,Missense_Q1349H,Missense_Q1380H exm1292323 17 8402755 [T/C] NM_001256095,NM_005964,NM_001256012 MYH10,MYH10,MYH10 EXON Missense_T1240A,Missense_T1231A,Missense_T1262A exm1292337 17 8409746 [T/G] NM_001256095,NM_005964,NM_001256012 MYH10,MYH10,MYH10 EXON Missense_D1070E,Missense_D1061E,Missense_D1092E exm1292348 17 8413233 [A/G] NM_001256095,NM_005964,NM_001256012 MYH10,MYH10,MYH10 EXON Missense_A974V,Missense_A965V,Missense_A996V exm1292353 17 8416897 [C/G] NM_001256095,NM_005964,NM_001256012 MYH10,MYH10,MYH10 EXON Missense_V880L,Missense_V871L,Missense_V902L exm2253323 17 8431453 [T/C] NM_001256095,NM_005964,NM_001256012 MYH10,MYH10,MYH10 Silent,Silent,Silent exm1292395 17 8449979 [A/C] NM_001256095,NM_005964,NM_001256012 MYH10,MYH10,MYH10 EXON Synonymous_V386V,Synonymous_V377V,Synonymous_V387V exm1292396 17 8451672 [T/C] NM_001256095,NM_005964,NM_001256012 MYH10,MYH10,MYH10 EXON Missense_K372R,Missense_K363R,Missense_K373R exm1292397 17 8451972 [T/G] NM_001256095,NM_005964,NM_001256012 MYH10,MYH10,MYH10 EXON Missense_E350D,Missense_E341D,Missense_E351D exm1292419 17 8526404 [T/C] NM_001256095,NM_005964,NM_001256012 MYH10,MYH10,MYH10 EXON Missense_R54Q,Missense_R54Q,Missense_R54Q exm1292427 17 8633492 [A/G] NM_001158261,NM_144681 CCDC42,CCDC42 EXON Missense_W229R,Missense_W303R exm1292430 17 8638483 [C/G] NM_001158261,NM_144681 CCDC42,CCDC42 EXON Missense_Q194H,Missense_Q268H exm1292431 17 8638499 [A/G] NM_001158261,NM_144681 CCDC42,CCDC42 EXON Missense_T189M,Missense_T263M exm1292439 17 8638809 [A/G] NM_001158261,NM_144681 CCDC42,CCDC42 EXON Silent,Missense_R205C exm1292448 17 8638850 [T/C] NM_001158261,NM_144681 CCDC42,CCDC42 EXON Silent,Missense_E191G exm1292451 17 8638865 [T/A] NM_001158261,NM_144681 CCDC42,CCDC42 EXON Silent,Missense_M186K exm1292452 17 8638872 [T/C] NM_001158261,NM_144681 CCDC42,CCDC42 EXON Silent,Missense_D184N exm1292458 17 8644854 [T/C] NM_001158261,NM_144681 CCDC42,CCDC42 EXON Missense_A144T,Missense_A144T exm1908593 17 8644878 [A/G] NM_001158261,NM_144681 CCDC42,CCDC42 EXON Missense_R136W,Missense_R136W exm1292461 17 8644887 [T/C] NM_001158261,NM_144681 CCDC42,CCDC42 EXON Missense_V133M,Missense_V133M exm1292463 17 8644902 [A/G] NM_001158261,NM_144681 CCDC42,CCDC42 EXON Missense_R128C,Missense_R128C exm1292464 17 8644924 [A/C] NM_001158261,NM_144681 CCDC42,CCDC42 EXON Missense_Q120H,Missense_Q120H exm1292470 17 8644974 [A/G] NM_001158261,NM_144681 CCDC42,CCDC42 EXON Missense_R104W,Missense_R104W exm1292477 17 8647015 [A/G] NM_001158261,NM_144681 CCDC42,CCDC42 EXON Missense_R75C,Missense_R75C exm1292483 17 8647479 [A/G] NM_001158261,NM_144681 CCDC42,CCDC42 EXON Missense_A36V,Missense_A36V exm1292486 17 8647863 [T/C] NM_001158261,NM_144681 CCDC42,CCDC42 EXON Missense_R22Q,Missense_R22Q exm1292493 17 8656662 [T/C] NM_001128076 SPDYE4 EXON Missense_V211I exm1292499 17 8658901 [A/G] NM_001128076 SPDYE4 EXON Missense_A141V exm1292517 17 8661610 [T/C] NM_001128076 SPDYE4 EXON Missense_E31K exm1292520 17 8661684 [A/G] NM_001128076 SPDYE4 EXON Missense_A6V exm1292525 17 8700719 [T/C] NM_152599 MFSD6L EXON Missense_D574N exm1292529 17 8700778 [A/G] NM_152599 MFSD6L EXON Missense_S554L exm1292530 17 8700794 [A/G] NM_152599 MFSD6L EXON Missense_R549W exm1292532 17 8700799 [T/C] NM_152599 MFSD6L EXON Missense_R547Q exm1292537 17 8700890 [T/G] NM_152599 MFSD6L EXON Missense_R517S exm1292538 17 8700899 [T/C] NM_152599 MFSD6L EXON Missense_V514M exm1292541 17 8700934 [C/G] NM_152599 MFSD6L EXON Missense_S502T exm1292543 17 8700982 [T/C] NM_152599 MFSD6L EXON Missense_R486H exm1292544 17 8700986 [G/C] NM_152599 MFSD6L EXON Missense_P485A exm2227588 17 8701094 [A/G] NM_152599 MFSD6L EXON Missense_S449P exm1292551 17 8701147 [A/G] NM_152599 MFSD6L EXON Missense_T431M exm1292557 17 8701217 [T/C] NM_152599 MFSD6L EXON Missense_A408T exm1292559 17 8701222 [A/G] NM_152599 MFSD6L EXON Missense_S406L exm1292563 17 8701244 [T/C] NM_152599 MFSD6L EXON Missense_G399S exm1292569 17 8701315 [A/G] NM_152599 MFSD6L EXON Missense_T375I exm1292570 17 8701319 [T/G] NM_152599 MFSD6L EXON Missense_T374P exm1292571 17 8701325 [T/C] NM_152599 MFSD6L EXON Missense_A372T exm1292578 17 8701423 [A/G] NM_152599 MFSD6L EXON Missense_I339T exm2227590 17 8701444 [A/G] NM_152599 MFSD6L EXON Missense_T332I exm1292582 17 8701483 [T/C] NM_152599 MFSD6L EXON Missense_R319Q exm1292583 17 8701486 [A/G] NM_152599 MFSD6L EXON Missense_P318L exm1908612 17 8701497 [G/C] NM_152599 MFSD6L EXON Missense_M314I exm1292585 17 8701544 [T/C] NM_152599 MFSD6L EXON Missense_V299M exm1292586 17 8701576 [T/C] NM_152599 MFSD6L EXON Nonsense_W288X exm1292591 17 8701709 [A/G] NM_152599 MFSD6L EXON Missense_R244W exm1292592 17 8701711 [T/C] NM_152599 MFSD6L EXON Missense_R243Q exm1292593 17 8701712 [A/G] NM_152599 MFSD6L EXON Missense_R243W exm1292597 17 8701799 [T/G] NM_152599 MFSD6L EXON Missense_P214T exm1292599 17 8701814 [T/C] NM_152599 MFSD6L EXON Missense_A209T exm1292602 17 8701934 [A/G] NM_152599 MFSD6L EXON Missense_H169Y exm1292609 17 8702078 [A/G] NM_152599 MFSD6L EXON Missense_L121F exm1292611 17 8702099 [T/C] NM_152599 MFSD6L EXON Missense_G114S exm1292613 17 8702137 [T/G] NM_152599 MFSD6L EXON Missense_D101A exm1292618 17 8702182 [T/C] NM_152599 MFSD6L EXON Missense_G86D exm2227591 17 8702186 [T/G] NM_152599 MFSD6L EXON Missense_L85I exm1292623 17 8702218 [A/C] NM_152599 MFSD6L EXON Missense_R74L exm1292626 17 8702290 [A/G] NM_152599 MFSD6L EXON Missense_T50I exm1292629 17 8702369 [T/C] NM_152599 MFSD6L EXON Missense_G24R exm1292630 17 8702375 [T/C] NM_152599 MFSD6L EXON Missense_V22M exm1292633 17 8706646 [A/G] NM_001010855 PIK3R6 EXON Missense_P737S exm1292641 17 8706736 [T/G] NM_001010855 PIK3R6 EXON Missense_L707I exm1292642 17 8706744 [A/G] NM_001010855 PIK3R6 EXON Missense_S704L exm1292643 17 8706748 [T/C] NM_001010855 PIK3R6 Silent exm1292648 17 8707449 [A/G] NM_001010855 PIK3R6 EXON Nonsense_R673X exm1292649 17 8707470 [A/G] NM_001010855 PIK3R6 EXON Nonsense_Q666X exm1292651 17 8722430 [A/C] NM_001010855 PIK3R6 EXON Missense_S655R exm1292663 17 8725231 [T/C] NM_001010855 PIK3R6 EXON Missense_R604Q exm1292669 17 8726324 [T/C] NM_001010855 PIK3R6 EXON Missense_K569R exm1292670 17 8726391 [T/C] NM_001010855 PIK3R6 EXON Missense_D547N exm1292680 17 8726792 [T/C] NM_001010855 PIK3R6 EXON Missense_R513Q exm1292685 17 8730530 [T/C] NM_001010855 PIK3R6 EXON Missense_V492I exm1292693 17 8731497 [T/C] NM_001010855 PIK3R6 EXON Missense_T442A exm1292697 17 8731929 [T/C] NM_001010855 PIK3R6 EXON Missense_D423G exm1292711 17 8732149 [A/C] NM_001010855 PIK3R6 EXON Missense_A350S exm1292712 17 8732203 [A/G] NM_001010855 PIK3R6 EXON Missense_R332W exm1292714 17 8732235 [A/G] NM_001010855 PIK3R6 EXON Missense_L321P exm1292723 17 8736223 [A/G] NM_001010855 PIK3R6 EXON Missense_A262V exm1292729 17 8736296 [T/C] NM_001010855 PIK3R6 EXON Missense_S238G exm1292741 17 8738760 [T/C] NM_001010855 PIK3R6 EXON Missense_V159M exm1292748 17 8739892 [T/A] NM_001010855 PIK3R6 EXON Missense_T145S exm1292749 17 8739901 [A/G] NM_001010855 PIK3R6 EXON Nonsense_Q142X exm1292757 17 8741181 [G/C] NM_001010855 PIK3R6 EXON Missense_S66T exm1292761 17 8741947 [A/C] NM_001010855 PIK3R6 EXON Missense_K41N exm1292777 17 8784042 [A/G] NM_001251851,NM_001251852,NM_001251853,NM_001251855,NM_014308,NM_001142633 PIK3R5,PIK3R5,PIK3R5,PIK3R5,PIK3R5,PIK3R5 EXON Missense_P467S,Missense_P467S,Missense_P467S,Missense_P467S,Missense_P853S,Missense_P853S exm1292779 17 8784044 [A/G] NM_001251851,NM_001251852,NM_001251853,NM_001251855,NM_014308,NM_001142633 PIK3R5,PIK3R5,PIK3R5,PIK3R5,PIK3R5,PIK3R5 EXON Missense_T466M,Missense_T466M,Missense_T466M,Missense_T466M,Missense_T852M,Missense_T852M exm1292796 17 8785123 [A/G] NM_001251851,NM_001251852,NM_001251853,NM_001251855,NM_014308,NM_001142633 PIK3R5,PIK3R5,PIK3R5,PIK3R5,PIK3R5,PIK3R5 EXON Missense_R375W,Missense_R375W,Missense_R375W,Missense_R375W,Missense_R761W,Missense_R761W exm1292803 17 8788075 [G/C] NM_001251851,NM_001251852,NM_001251853,NM_001251855,NM_014308,NM_001142633 PIK3R5,PIK3R5,PIK3R5,PIK3R5,PIK3R5,PIK3R5 EXON Missense_I332M,Missense_I332M,Missense_I332M,Missense_I332M,Missense_I718M,Missense_I718M exm1292813 17 8790433 [A/G] NM_001251851,NM_001251852,NM_001251853,NM_001251855,NM_014308,NM_001142633 PIK3R5,PIK3R5,PIK3R5,PIK3R5,PIK3R5,PIK3R5 EXON Missense_P243S,Missense_P243S,Missense_P243S,Missense_P243S,Missense_P629S,Missense_P629S exm1292821 17 8790869 [A/G] NM_001251851,NM_001251852,NM_001251853,NM_001251855,NM_014308,NM_001142633 PIK3R5,PIK3R5,PIK3R5,PIK3R5,PIK3R5,PIK3R5 EXON Missense_P197L,Missense_P197L,Missense_P197L,Missense_P197L,Missense_P583L,Missense_P583L exm1292823 17 8790921 [T/C] NM_001251851,NM_001251852,NM_001251853,NM_001251855,NM_014308,NM_001142633 PIK3R5,PIK3R5,PIK3R5,PIK3R5,PIK3R5,PIK3R5 EXON Missense_G180R,Missense_G180R,Missense_G180R,Missense_G180R,Missense_G566R,Missense_G566R exm1292824 17 8790936 [T/C] NM_001251851,NM_001251852,NM_001251853,NM_001251855,NM_014308,NM_001142633 PIK3R5,PIK3R5,PIK3R5,PIK3R5,PIK3R5,PIK3R5 EXON Missense_V175M,Missense_V175M,Missense_V175M,Missense_V175M,Missense_V561M,Missense_V561M exm1292827 17 8791494 [T/C] NM_001251851,NM_001251852,NM_001251853,NM_001251855,NM_014308,NM_001142633 PIK3R5,PIK3R5,PIK3R5,PIK3R5,PIK3R5,PIK3R5 EXON Missense_N151S,Missense_N151S,Missense_N151S,Missense_N151S,Missense_N537S,Missense_N537S exm1292829 17 8791540 [A/G] NM_001251851,NM_001251852,NM_001251853,NM_001251855,NM_014308,NM_001142633 PIK3R5,PIK3R5,PIK3R5,PIK3R5,PIK3R5,PIK3R5 EXON Missense_F136L,Missense_F136L,Missense_F136L,Missense_F136L,Missense_F522L,Missense_F522L exm1292844 17 8791887 [T/C] NM_001251851,NM_001251852,NM_001251853,NM_001251855,NM_014308,NM_001142633 PIK3R5,PIK3R5,PIK3R5,PIK3R5,PIK3R5,PIK3R5 EXON Missense_R20H,Missense_R20H,Missense_R20H,Missense_R20H,Missense_R406H,Missense_R406H exm1292850 17 8791989 [A/G] NM_001251851,NM_001251852,NM_001251853,NM_001251855,NM_014308,NM_001142633 PIK3R5,PIK3R5,PIK3R5,PIK3R5,PIK3R5,PIK3R5 EXON Silent,Silent,Silent,Silent,Missense_S372L,Missense_S372L exm1292871 17 8794081 [T/C] NM_001251851,NM_001251852,NM_001251853,NM_001251855,NM_014308,NM_001142633 PIK3R5,PIK3R5,PIK3R5,PIK3R5,PIK3R5,PIK3R5 EXON Silent,Silent,Silent,Silent,Missense_V211I,Missense_V211I exm1292879 17 8796915 [T/C] NM_001251851,NM_001251852,NM_001251853,NM_001251855,NM_014308,NM_001142633 PIK3R5,PIK3R5,PIK3R5,PIK3R5,PIK3R5,PIK3R5 EXON Silent,Silent,Silent,Silent,Missense_R157H,Missense_R157H exm1292881 17 8808174 [T/C] NM_001251851,NM_001251852,NM_001251853,NM_001251855,NM_014308,NM_001142633 PIK3R5,PIK3R5,PIK3R5,PIK3R5,PIK3R5,PIK3R5 EXON Silent,Silent,Silent,Silent,Missense_R111Q,Missense_R111Q exm1292886 17 8809024 [T/C] NM_001251851,NM_001251852,NM_001251853,NM_001251855,NM_014308,NM_001142633 PIK3R5,PIK3R5,PIK3R5,PIK3R5,PIK3R5,PIK3R5 EXON Silent,Silent,Silent,Silent,Missense_T79A,Missense_T79A exm2253324 17 8811678 [A/G] NM_001251851,NM_001251852,NM_001251853,NM_001251855,NM_014308,NM_001142633 PIK3R5,PIK3R5,PIK3R5,PIK3R5,PIK3R5,PIK3R5 Silent,Silent,Silent,Silent,Silent,Silent exm1292895 17 8814726 [T/C] NM_001251851,NM_001251852,NM_001251853,NM_001251855,NM_014308,NM_001142633 PIK3R5,PIK3R5,PIK3R5,PIK3R5,PIK3R5,PIK3R5 EXON Silent,Silent,Silent,Silent,Missense_R29H,Missense_R29H exm2253325 17 8814797 [A/G] NM_001251851,NM_001251852,NM_001251853,NM_001251855,NM_014308,NM_001142633 PIK3R5,PIK3R5,PIK3R5,PIK3R5,PIK3R5,PIK3R5 EXON Silent,Silent,Silent,Silent,Synonymous_A5A,Synonymous_A5A exm1292899 17 8814797 [A/G] NM_001251851,NM_001251852,NM_001251853,NM_001251855,NM_014308,NM_001142633 PIK3R5,PIK3R5,PIK3R5,PIK3R5,PIK3R5,PIK3R5 EXON Silent,Silent,Silent,Silent,Synonymous_A5A,Synonymous_A5A exm2268030 17 8860493 [A/G] NM_001251851,NM_001251852,NM_001251853,NM_001251855,NM_001142633 PIK3R5,PIK3R5,PIK3R5,PIK3R5,PIK3R5 Silent,Silent,Silent,Silent,Silent exm2274905 17 8926061 [A/C] NM_004822 NTN1 EXON Missense_N124T exm1908755 17 8926318 [A/G] NM_004822 NTN1 EXON Missense_M210V exm1292922 17 8926321 [A/C] NM_004822 NTN1 EXON Missense_R211S exm1292949 17 9083205 [T/C] NM_004822 NTN1 EXON Missense_T430M exm1292955 17 9086248 [T/C] NM_004822 NTN1 EXON Missense_P458L exm2267982 17 9200911 [A/G] NM_004853,NR_033656 STX8,STX8 Silent,Silent exm-rs10521157 17 9336370 [A/G] NM_004853,NR_033656 STX8,STX8 Silent,Silent exm1293007 17 9395230 [T/C] NM_004853,NR_033656 STX8,STX8 EXON Missense_A153T,Silent exm1293011 17 9408381 [T/C] NM_004853,NR_033656 STX8,STX8 EXON Missense_R141Q,Silent exm1293017 17 9408450 [T/C] NM_004853,NR_033656 STX8,STX8 EXON Missense_R118Q,Silent exm1293019 17 9408477 [T/G] NM_004853,NR_033656 STX8,STX8 EXON Missense_S109Y,Silent exm1293027 17 9471725 [T/C] NM_004853,NR_033656 STX8,STX8 EXON Missense_R27Q,Silent exm1293033 17 9479112 [A/G] NM_004853,NR_033656 STX8,STX8 EXON Missense_P5L,Silent exm1293040 17 9480038 [T/C] NM_001080556,NM_145054 WDR16,WDR16 EXON Missense_A9V,Missense_A9V exm1293044 17 9489128 [A/G] NM_001080556,NM_145054 WDR16,WDR16 EXON Silent,Missense_E37K exm2276483 17 9489208 [A/T] NM_001080556,NM_145054 WDR16,WDR16 EXON Silent,Missense_H63Q exm1293048 17 9489233 [A/G] NM_001080556,NM_145054 WDR16,WDR16 EXON Silent,Missense_I72V exm1293051 17 9489263 [A/G] NM_001080556,NM_145054 WDR16,WDR16 EXON Silent,Missense_G82R exm1293054 17 9497517 [A/G] NM_001080556,NM_145054 WDR16,WDR16 EXON Missense_V71M,Missense_V139M exm1293056 17 9497560 [T/C] NM_001080556,NM_145054 WDR16,WDR16 EXON Missense_A85V,Missense_A153V exm1293058 17 9497584 [T/C] NM_001080556,NM_145054 WDR16,WDR16 EXON Missense_A93V,Missense_A161V exm1293071 17 9503481 [T/C] NM_001080556,NM_145054 WDR16,WDR16 EXON Missense_A177V,Missense_A245V exm1293075 17 9511470 [A/G] NM_001080556,NM_145054 WDR16,WDR16 EXON Missense_G195D,Missense_G263D exm1293086 17 9515706 [T/C] NM_001080556,NM_145054 WDR16,WDR16 EXON Missense_S244L,Missense_S312L exm1293093 17 9515777 [A/G] NM_001080556,NM_145054 WDR16,WDR16 EXON Missense_E268K,Missense_E336K exm1908981 17 9532106 [A/C] NM_001080556,NM_145054 WDR16,WDR16 EXON Missense_D313E,Missense_D381E exm1293126 17 9545078 [C/G] NM_001080556,NM_145054 WDR16,WDR16 EXON Missense_R470T,Missense_R538T exm1293137 17 9546424 [T/C] NM_001080556,NM_145054 WDR16,WDR16 EXON Missense_T523I,Missense_T591I exm1293169 17 9559802 [A/G] NM_001267576,NM_153210 USP43,USP43 EXON Missense_R196H,Missense_R196H exm1293172 17 9559844 [T/C] NM_001267576,NM_153210 USP43,USP43 EXON Missense_S210L,Missense_S210L exm1293173 17 9559847 [A/C] NM_001267576,NM_153210 USP43,USP43 EXON Missense_E211A,Missense_E211A exm1909016 17 9586221 [A/G] NM_001267576,NM_153210 USP43,USP43 EXON Missense_S396N,Missense_S396N exm1293195 17 9596450 [A/G] NM_001267576,NM_153210 USP43,USP43 EXON Missense_G454R,Missense_G454R exm1293212 17 9604888 [A/G] NM_001267576,NM_153210 USP43,USP43 EXON Missense_A628T,Missense_A628T exm2277134 17 9604928 [A/G] NM_001267576,NM_153210 USP43,USP43 EXON Missense_C641Y,Missense_C641Y exm1293222 17 9613339 [A/G] NM_001267576,NM_153210 USP43,USP43 EXON Missense_R688Q,Missense_R693Q exm1293229 17 9615329 [C/G] NM_001267576,NM_153210 USP43,USP43 EXON Missense_G734R,Missense_G739R exm1293236 17 9631298 [A/G] NM_001267576,NM_153210 USP43,USP43 EXON Missense_R783Q,Missense_R788Q exm1293237 17 9631303 [A/G] NM_001267576,NM_153210 USP43,USP43 EXON Missense_V785M,Missense_V790M exm1293243 17 9631418 [C/G] NM_001267576,NM_153210 USP43,USP43 EXON Missense_A823G,Missense_A828G exm1293251 17 9631505 [T/C] NM_001267576,NM_153210 USP43,USP43 EXON Missense_A852V,Missense_A857V exm1293267 17 9631730 [T/C] NM_001267576,NM_153210 USP43,USP43 EXON Missense_P927L,Missense_P932L exm1293270 17 9631745 [A/C] NM_001267576,NM_153210 USP43,USP43 EXON Missense_P932H,Missense_P937H exm1293273 17 9631994 [T/C] NM_001267576,NM_153210 USP43,USP43 EXON Missense_V1015A,Missense_V1020A exm1293276 17 9632032 [T/G] NM_001267576,NM_153210 USP43,USP43 EXON Missense_A1028S,Missense_A1033S exm1293281 17 9632146 [T/C] NM_001267576,NM_153210 USP43,USP43 EXON Missense_R1066C,Missense_R1071C exm2227607 17 9632156 [A/G] NM_001267576,NM_153210 USP43,USP43 EXON Missense_R1069H,Missense_R1074H exm1293291 17 9674858 [T/C] NM_001105571,NM_001220493 DHRS7C,DHRS7C EXON Missense_A295T,Missense_A296T exm1909066 17 9674954 [G/C] NM_001105571,NM_001220493 DHRS7C,DHRS7C EXON Missense_R263G,Missense_R264G exm1293302 17 9676115 [G/C] NM_001105571,NM_001220493 DHRS7C,DHRS7C EXON Missense_E232D,Missense_E233D exm1293306 17 9676134 [A/G] NM_001105571,NM_001220493 DHRS7C,DHRS7C EXON Missense_S226L,Missense_S227L exm1293309 17 9676174 [T/C] NM_001105571,NM_001220493 DHRS7C,DHRS7C EXON Missense_D213N,Missense_D214N exm1293310 17 9676183 [C/G] NM_001105571,NM_001220493 DHRS7C,DHRS7C EXON Missense_E210Q,Missense_E211Q exm1293311 17 9676195 [A/G] NM_001105571,NM_001220493 DHRS7C,DHRS7C EXON Nonsense_R206X,Nonsense_R207X exm1293313 17 9676206 [A/G] NM_001105571,NM_001220493 DHRS7C,DHRS7C EXON Missense_F202S,Missense_F203S exm1293318 17 9680578 [T/C] NM_001105571,NM_001220493 DHRS7C,DHRS7C EXON Missense_R168Q,Missense_R169Q exm1293319 17 9680599 [A/T] NM_001105571,NM_001220493 DHRS7C,DHRS7C EXON Missense_L161Q,Missense_L162Q exm1293320 17 9683193 [A/C] NM_001105571,NM_001220493 DHRS7C,DHRS7C EXON Missense_D143Y,Missense_D144Y exm1293323 17 9683226 [T/C] NM_001105571,NM_001220493 DHRS7C,DHRS7C EXON Missense_K132E,Missense_K133E exm1293326 17 9683268 [T/C] NM_001105571,NM_001220493 DHRS7C,DHRS7C EXON Missense_G118S,Missense_G119S exm1293327 17 9683276 [T/G] NM_001105571,NM_001220493 DHRS7C,DHRS7C EXON Missense_D115A,Missense_D116A exm1293334 17 9694550 [T/C] NM_001105571,NM_001220493 DHRS7C,DHRS7C EXON Missense_G18S,Missense_G18S exm2268031 17 9697973 [A/G] exm1293341 17 9729445 [T/A] NM_004246 GLP2R EXON Missense_H22L exm1293343 17 9729447 [A/G] NM_004246 GLP2R EXON Missense_E23K exm1293344 17 9729503 [G/C] NM_004246 GLP2R EXON Missense_R41S exm2227608 17 9737139 [T/C] NM_004246 GLP2R EXON Missense_L69F exm1293348 17 9737155 [A/G] NM_004246 GLP2R EXON Missense_R74Q exm1293350 17 9737172 [A/G] NM_004246 GLP2R EXON Missense_K80E exm1909100 17 9737196 [T/C] NM_004246 GLP2R EXON Missense_L88F exm1293352 17 9737205 [C/G] NM_004246 GLP2R EXON Missense_P91A exm1293370 17 9760754 [T/C] NM_004246 GLP2R EXON Missense_T209M exm1293373 17 9760817 [T/C] NM_004246 GLP2R EXON Missense_V230A exm1293375 17 9760825 [A/G] NM_004246 GLP2R EXON Missense_V233I exm1293377 17 9760828 [A/G] NM_004246 GLP2R EXON Missense_V234I exm1293381 17 9760892 [A/C] NM_004246 GLP2R EXON Missense_E255A exm1293405 17 9774124 [A/C] NM_004246 GLP2R EXON Missense_Q373K exm1293408 17 9783695 [A/G] NM_004246 GLP2R EXON Synonymous_R382R exm1293414 17 9791286 [G/C] NM_004246 GLP2R EXON Missense_G441A exm1293418 17 9792733 [A/G] NM_004246 GLP2R EXON Missense_R458H exm1293419 17 9792768 [A/G] NM_004246 GLP2R EXON Missense_D470N exm1293421 17 9792774 [T/C] NM_004246 GLP2R EXON Missense_R472W exm1293427 17 9792861 [T/C] NM_004246 GLP2R EXON Missense_R501W exm1293435 17 9792937 [A/G] NM_004246 GLP2R EXON Missense_R526Q exm1293449 17 9801417 [T/C] NM_002903 RCVRN EXON Missense_A200T exm1293457 17 9804323 [A/C] NM_002903 RCVRN EXON Missense_F159C exm1293458 17 9804347 [A/C] NM_002903 RCVRN EXON Missense_R151L exm1293465 17 9804399 [T/C] NM_002903 RCVRN EXON Missense_T134A exm1293470 17 9808215 [T/C] NM_002903 RCVRN EXON Missense_A95T exm1293471 17 9808253 [A/T] NM_002903 RCVRN EXON Missense_D82V exm1293475 17 9808338 [T/C] NM_002903 RCVRN EXON Missense_A54T exm2272485 17 9820695 [T/C] NM_003644,NM_001130831,NM_201432,NM_201433 GAS7,GAS7,GAS7,GAS7 Silent,Silent,Silent,Silent exm1293490 17 9821376 [T/C] NM_003644,NM_001130831,NM_201432,NM_201433 GAS7,GAS7,GAS7,GAS7 EXON Missense_R280Q,Missense_R356Q,Missense_R360Q,Missense_R420Q exm1293491 17 9821397 [A/C] NM_003644,NM_001130831,NM_201432,NM_201433 GAS7,GAS7,GAS7,GAS7 EXON Missense_V273G,Missense_V349G,Missense_V353G,Missense_V413G exm1293492 17 9821400 [T/C] NM_003644,NM_001130831,NM_201432,NM_201433 GAS7,GAS7,GAS7,GAS7 EXON Missense_E272G,Missense_E348G,Missense_E352G,Missense_E412G exm1909166 17 9829984 [A/C] NM_003644,NM_001130831,NM_201432,NM_201433 GAS7,GAS7,GAS7,GAS7 EXON Missense_A190S,Missense_A266S,Missense_A270S,Missense_A330S exm1293538 17 9873043 [A/G] NM_001130831,NM_201432,NM_201433 GAS7,GAS7,GAS7 EXON Missense_P77L,Missense_P81L,Missense_P141L exm1293542 17 9885187 [A/G] NM_001130831,NM_201432,NM_201433 GAS7,GAS7,GAS7 EXON Missense_R43C,Missense_R47C,Missense_R107C exm1293547 17 9923189 [A/G] NM_001130831,NM_201432,NM_201433 GAS7,GAS7,GAS7 EXON Missense_P6L,Missense_P10L,Missense_P70L exm2272486 17 10020505 [T/C] NM_201433 GAS7 Silent exm1293569 17 10206595 [T/C] NM_003802 MYH13 EXON Missense_H1862R exm1293574 17 10206812 [A/G] NM_003802 MYH13 EXON Missense_R1824W exm1293586 17 10212596 [G/C] NM_003802 MYH13 EXON Missense_Q1708H exm1874323 17 10212612 [T/C] NM_003802 MYH13 EXON Missense_R1703H exm1293590 17 10212619 [G/C] NM_003802 MYH13 EXON Missense_R1701G exm1293594 17 10212703 [T/C] NM_003802 MYH13 EXON Missense_E1673K exm1293598 17 10212844 [A/G] NM_003802 MYH13 EXON Missense_L1654F exm1293599 17 10212961 [A/C] NM_003802 MYH13 EXON Missense_A1615S exm1293600 17 10212964 [C/G] NM_003802 MYH13 EXON Missense_D1614H exm1293613 17 10215944 [A/G] NM_003802 MYH13 EXON Missense_R1438C exm1874332 17 10215956 [A/G] NM_003802 MYH13 EXON Missense_R1434W exm1293619 17 10216063 [A/G] NM_003802 MYH13 EXON Missense_A1398V exm1293633 17 10216659 [T/G] NM_003802 MYH13 EXON Missense_M1333L exm1293634 17 10219080 [A/T] NM_003802 MYH13 EXON Missense_L1305Q exm1293635 17 10219092 [A/G] NM_003802 MYH13 EXON Missense_L1301P exm1293637 17 10219113 [T/C] NM_003802 MYH13 EXON Missense_R1294Q exm1293638 17 10219244 [T/C] NM_003802 MYH13 EXON Missense_M1279I exm1293661 17 10222367 [T/C] NM_003802 MYH13 EXON Missense_A1160T exm1293668 17 10222462 [A/G] NM_003802 MYH13 EXON Missense_A1128V exm1293669 17 10222492 [T/C] NM_003802 MYH13 EXON Missense_R1118H exm2225657 17 10223550 [G/C] NM_003802 MYH13 EXON Missense_E1090Q exm1293674 17 10223714 [T/C] NM_003802 MYH13 EXON Missense_M1071V exm1293680 17 10223782 [A/G] NM_003802 MYH13 EXON Missense_L1048P exm1293686 17 10224869 [A/G] NM_003802 MYH13 EXON Missense_L1031F exm1293696 17 10227426 [A/C] NM_003802 MYH13 EXON Missense_D949E exm1293702 17 10231206 [T/C] NM_003802 MYH13 EXON Missense_D890N exm1293703 17 10231253 [T/C] NM_003802 MYH13 EXON Missense_R874Q exm1293704 17 10231268 [T/C] NM_003802 MYH13 EXON Missense_R869Q exm1293705 17 10231269 [A/G] NM_003802 MYH13 EXON Nonsense_R869X exm1293707 17 10231335 [T/C] NM_003802 MYH13 EXON Missense_A847T exm1293708 17 10231337 [T/C] NM_003802 MYH13 EXON Missense_S846N exm1293717 17 10233761 [T/C] NM_003802 MYH13 EXON Missense_Q793R exm1293720 17 10233822 [A/G] NM_003802 MYH13 EXON Missense_L773F exm1293730 17 10236464 [T/C] NM_003802 MYH13 EXON Missense_G701R exm1293739 17 10243717 [A/G] NM_003802 MYH13 EXON Synonymous_G632G exm1293773 17 10250101 [T/C] NM_003802 MYH13 EXON Missense_G387R exm1293777 17 10253908 [T/C] NM_003802 MYH13 EXON Missense_Q370R exm1293789 17 10258433 [T/G] NM_003802 MYH13 EXON Missense_T257K exm1293793 17 10261080 [A/G] NM_003802 MYH13 EXON Missense_T237I exm1293812 17 10265714 [T/C] NM_003802 MYH13 EXON Missense_Y104C exm1293818 17 10267673 [T/C] NM_003802 MYH13 EXON Missense_K59E exm1293819 17 10267699 [A/C] NM_003802 MYH13 EXON Missense_G50V exm1293837 17 10295236 [A/G] NM_002472 MYH8 EXON Missense_A1876V exm1293838 17 10295882 [A/G] NM_002472 MYH8 EXON Nonsense_R1849X exm1293842 17 10295914 [T/G] NM_002472 MYH8 EXON Missense_E1838A exm1293845 17 10295924 [A/G] NM_002472 MYH8 EXON Missense_R1835C exm1293848 17 10295963 [T/C] NM_002472 MYH8 EXON Missense_V1822I exm1293849 17 10296152 [A/G] NM_002472 MYH8 EXON Missense_A1820V exm1293866 17 10297619 [T/C] NM_002472 MYH8 EXON Missense_A1705T exm1293871 17 10297696 [T/C] NM_002472 MYH8 EXON Missense_R1679H exm1293874 17 10298448 [A/G] NM_002472 MYH8 Silent exm1293878 17 10298534 [A/G] NM_002472 MYH8 EXON Synonymous_N1626N exm1293879 17 10298599 [T/C] NM_002472 MYH8 EXON Missense_D1605N exm1293882 17 10298626 [T/C] NM_002472 MYH8 EXON Missense_V1596I exm1293883 17 10298628 [G/C] NM_002472 MYH8 EXON Missense_R1595T exm1293890 17 10299899 [A/G] NM_002472 MYH8 EXON Missense_T1500M exm1293894 17 10299984 [T/C] NM_002472 MYH8 EXON Missense_A1472T exm1293896 17 10300019 [T/C] NM_002472 MYH8 EXON Missense_K1460R exm1293898 17 10300127 [A/G] NM_002472 MYH8 EXON Missense_F1452S exm1293899 17 10300179 [T/C] NM_002472 MYH8 EXON Missense_V1435M exm1293916 17 10301936 [T/C] NM_002472 MYH8 EXON Missense_A1335T exm1874459 17 10302192 [A/G] NM_002472 MYH8 EXON Nonsense_R1292X exm1293924 17 10302965 [A/G] NM_002472 MYH8 EXON Missense_R1253C exm1293925 17 10303756 [A/G] NM_002472 MYH8 EXON Missense_M1229T exm1293926 17 10303770 [A/C] NM_002472 MYH8 EXON Missense_K1224N exm1293931 17 10303888 [G/C] NM_002472 MYH8 EXON Missense_T1185S exm1293933 17 10303910 [A/G] NM_002472 MYH8 EXON Missense_R1178C exm1874484 17 10304713 [G/C] NM_002472 MYH8 EXON Missense_S996C exm1293958 17 10305000 [T/C] NM_002472 MYH8 EXON Missense_E931K exm1293961 17 10307717 [T/C] NM_002472 MYH8 EXON Missense_R873Q exm2252836 17 10309612 [T/C] NM_002472 MYH8 EXON Synonymous_Q758Q exm1293978 17 10310026 [A/G] NM_002472 MYH8 EXON Missense_Y718H exm1293979 17 10310031 [T/A] NM_002472 MYH8 EXON Missense_I716N exm1874499 17 10310061 [T/C] NM_002472 MYH8 EXON Missense_R706H exm1293983 17 10310087 [A/C] NM_002472 MYH8 EXON Missense_R697S exm1293994 17 10312472 [A/G] NM_002472 MYH8 EXON Missense_A636V exm1293995 17 10312480 [A/G] NM_002472 MYH8 EXON Synonymous_D633D exm1293999 17 10312678 [T/A] NM_002472 MYH8 EXON Missense_N605K exm1294025 17 10315984 [T/G] NM_002472 MYH8 EXON Nonsense_C403X exm1294033 17 10317299 [A/G] NM_002472 MYH8 EXON Missense_T356I exm1874524 17 10318674 [T/C] NM_002472 MYH8 EXON Missense_A226T exm1294062 17 10318897 [A/G] NM_002472 MYH8 EXON Synonymous_T180T exm1294082 17 10322281 [T/C] NM_002472 MYH8 EXON Missense_M93V exm1874532 17 10322333 [C/G] NM_002472 MYH8 EXON Missense_R75S exm1294096 17 10323402 [A/G] NM_002472 MYH8 EXON Missense_S48F exm1294100 17 10323486 [T/C] NM_002472 MYH8 EXON Missense_R20Q exm2225665 17 10324980 [T/C] NM_002472 MYH8 EXON Silent exm1294106 17 10346774 [T/C] NM_017533 MYH4 EXON Missense_R1913Q exm1294107 17 10346775 [A/G] NM_017533 MYH4 EXON Missense_R1913W exm1294108 17 10346781 [T/C] NM_017533 MYH4 EXON Missense_K1911E exm1294110 17 10346811 [A/G] NM_017533 MYH4 EXON Missense_R1901C exm2225666 17 10347958 [A/G] NM_017533 MYH4 EXON Missense_T1877I exm1294116 17 10348004 [A/G] NM_017533 MYH4 EXON Missense_R1862C exm1294117 17 10348150 [A/G] NM_017533 MYH4 EXON Missense_R1845C exm1294131 17 10348591 [A/C] NM_017533 MYH4 EXON Missense_R1753L exm1294135 17 10350353 [A/G] NM_017533 MYH4 EXON Missense_R1716C exm1294139 17 10350472 [A/G] NM_017533 MYH4 EXON Missense_A1676V exm1294142 17 10350525 [G/C] NM_017533 MYH4 EXON Missense_Q1658H exm1294146 17 10351292 [T/C] NM_017533 MYH4 EXON Missense_S1603N exm1294147 17 10351327 [A/C] NM_017533 MYH4 EXON Missense_K1591N exm1294153 17 10351723 [T/G] NM_017533 MYH4 EXON Missense_E1549A exm1294156 17 10351784 [A/C] NM_017533 MYH4 EXON Nonsense_E1529X exm1294157 17 10351819 [T/G] NM_017533 MYH4 EXON Missense_T1517K exm1294163 17 10352043 [A/G] NM_017533 MYH4 EXON Nonsense_Q1475X exm1294170 17 10352244 [A/C] NM_017533 MYH4 EXON Missense_I1434M exm2225670 17 10353813 [T/C] NM_017533 MYH4 EXON Missense_E1380K exm1294185 17 10353908 [T/C] NM_017533 MYH4 EXON Missense_R1348Q exm1294186 17 10353909 [A/G] NM_017533 MYH4 EXON Missense_R1348W exm1294190 17 10354147 [T/C] NM_017533 MYH4 EXON Missense_A1311T exm1294191 17 10354159 [A/G] NM_017533 MYH4 EXON Nonsense_R1307X exm1294192 17 10354185 [T/C] NM_017533 MYH4 EXON Missense_K1298R exm1294197 17 10354675 [A/G] NM_017533 MYH4 EXON Missense_S1278L exm1294199 17 10354727 [T/G] NM_017533 MYH4 EXON Missense_S1261R exm1294201 17 10354747 [T/C] NM_017533 MYH4 EXON Missense_R1254H exm1294202 17 10354748 [A/G] NM_017533 MYH4 EXON Missense_R1254C exm1294205 17 10355350 [A/G] NM_017533 MYH4 EXON Missense_R1216W exm1294223 17 10355646 [T/G] NM_017533 MYH4 EXON Missense_A1117D exm1294225 17 10355732 [A/C] NM_017533 MYH4 Silent exm1294229 17 10355763 [T/C] NM_017533 MYH4 EXON Missense_I1106M exm1294231 17 10356132 [T/G] NM_017533 MYH4 EXON Missense_K1077Q exm2225673 17 10356645 [T/C] NM_017533 MYH4 EXON Missense_V979M exm1294241 17 10356977 [A/G] NM_017533 MYH4 EXON Missense_H973Y exm1294249 17 10357189 [A/G] NM_017533 MYH4 EXON Missense_L902S exm1294251 17 10357915 [A/G] NM_017533 MYH4 EXON Missense_T883M exm1294262 17 10358324 [A/G] NM_017533 MYH4 EXON Missense_T790M exm1294268 17 10358584 [T/G] NM_017533 MYH4 EXON Missense_P735T exm1294283 17 10359846 [A/T] NM_017533 MYH4 EXON Nonsense_K642X exm1294311 17 10363295 [T/C] NM_017533 MYH4 EXON Missense_D464N exm1294315 17 10363542 [A/G] NM_017533 MYH4 EXON Missense_T415I exm1294319 17 10363560 [T/A] NM_017533 MYH4 EXON Missense_V409D exm1294327 17 10364373 [T/G] NM_017533 MYH4 Silent exm1294329 17 10366204 [T/C] NM_017533 MYH4 EXON Missense_Q329R exm1294330 17 10366223 [T/C] NM_017533 MYH4 EXON Missense_V323M exm1294338 17 10366663 [T/A] NM_017533 MYH4 EXON Missense_I266N exm1294342 17 10366693 [T/C] NM_017533 MYH4 EXON Missense_G256D exm1294352 17 10367810 [T/G] NM_017533 MYH4 EXON Missense_E209D exm1294354 17 10367866 [A/G] NM_017533 MYH4 EXON Missense_R191C exm1294355 17 10367886 [A/C] NM_017533 MYH4 EXON Missense_G184V exm1294364 17 10368767 [A/G] NM_017533 MYH4 EXON Missense_M166T exm1294370 17 10368916 [G/C] NM_017533 MYH4 Silent exm1294392 17 10395825 [T/C] NM_005963 MYH1 EXON Missense_A1910T exm1294394 17 10395845 [T/A] NM_005963 MYH1 EXON Missense_I1903N exm1294400 17 10397671 [T/C] NM_005963 MYH1 EXON Synonymous_A1889A exm1294401 17 10397672 [A/G] NM_005963 MYH1 EXON Missense_A1889V exm1294403 17 10397687 [T/C] NM_005963 MYH1 EXON Missense_R1884K exm1294405 17 10397735 [A/T] NM_005963 MYH1 EXON Missense_L1868H exm1294412 17 10398252 [C/G] NM_005963 MYH1 EXON Missense_A1821G exm1874664 17 10398298 [T/G] NM_005963 MYH1 EXON Missense_Q1806K exm1294427 17 10398627 [T/C] NM_005963 MYH1 EXON Missense_S1726N exm1874670 17 10399289 [T/C] NM_005963 MYH1 EXON Missense_R1716H exm1294431 17 10399290 [A/G] NM_005963 MYH1 EXON Missense_R1716C exm1294439 17 10399461 [T/G] NM_005963 MYH1 EXON Missense_L1659I exm1294454 17 10399867 [G/C] NM_005963 MYH1 Silent exm1294463 17 10400663 [A/G] NM_005963 MYH1 EXON Missense_A1491V exm1294466 17 10400700 [A/G] NM_005963 MYH1 EXON Missense_R1479C exm1294485 17 10401217 [T/C] NM_005963 MYH1 EXON Missense_R1400H exm1294488 17 10401968 [A/G] NM_005963 MYH1 EXON Missense_R1386C exm1294496 17 10402103 [A/G] NM_005963 MYH1 EXON Missense_R1341C exm1294499 17 10402312 [A/C] NM_005963 MYH1 EXON Missense_R1321S exm2225679 17 10402398 [A/G] NM_005963 MYH1 EXON Missense_R1293C exm1294508 17 10403961 [A/G] NM_005963 MYH1 EXON Missense_R1283C exm1294510 17 10403994 [A/G] NM_005963 MYH1 EXON Missense_R1272W exm1294512 17 10404032 [T/C] NM_005963 MYH1 EXON Missense_Q1259R exm1294513 17 10404045 [T/C] NM_005963 MYH1 EXON Missense_A1255T exm1294515 17 10404051 [A/G] NM_005963 MYH1 EXON Missense_C1253R exm2252840 17 10404493 [T/C] NM_005963 MYH1 EXON Synonymous_E1224E exm1294520 17 10404498 [T/C] NM_005963 MYH1 EXON Missense_K1223E exm1294539 17 10404809 [A/G] NM_005963 MYH1 EXON Missense_I1119T exm1294541 17 10404966 [A/G] NM_005963 MYH1 EXON Missense_I1098T exm1294561 17 10408175 [G/C] NM_005963 MYH1 EXON Missense_M881I exm1874716 17 10408380 [T/A] NM_005963 MYH1 EXON Missense_E813V exm1294567 17 10408381 [G/C] NM_005963 MYH1 EXON Missense_E813Q exm2225681 17 10408609 [A/G] NM_005963 MYH1 EXON Missense_F769S exm1874719 17 10408772 [T/G] NM_005963 MYH1 EXON Missense_K744T exm1294587 17 10409241 [T/C] NM_005963 MYH1 EXON Missense_M688V exm1294588 17 10409243 [A/G] NM_005963 MYH1 EXON Missense_A687V exm1294597 17 10411253 [T/C] NM_005963 MYH1 EXON Missense_G640S exm1294603 17 10411694 [A/G] NM_005963 MYH1 EXON Missense_T628M exm1294607 17 10411728 [T/C] NM_005963 MYH1 EXON Missense_M617V exm1294614 17 10411957 [C/G] NM_005963 MYH1 EXON Missense_E540D exm1294619 17 10412807 [T/C] NM_005963 MYH1 EXON Missense_E528K exm1294629 17 10415269 [A/G] NM_005963 MYH1 EXON Missense_Y435H exm1294633 17 10415757 [T/C] NM_005963 MYH1 EXON Missense_R372H exm1294635 17 10415792 [T/C] NM_005963 MYH1 EXON Missense_M360I exm1294636 17 10415802 [T/C] NM_005963 MYH1 EXON Missense_G357E exm1294638 17 10415812 [T/A] NM_005963 MYH1 EXON Nonsense_K354X exm1294642 17 10415826 [T/C] NM_005963 MYH1 EXON Missense_R349K exm1294645 17 10415842 [A/T] NM_005963 MYH1 EXON Missense_F344I exm1294648 17 10416021 [C/G] NM_005963 MYH1 EXON Missense_Q329E exm1294649 17 10416027 [T/C] NM_005963 MYH1 EXON Missense_D327N exm1294656 17 10416991 [T/C] NM_005963 MYH1 EXON Missense_I253V exm1294658 17 10417137 [T/C] NM_005963 MYH1 Silent exm1294661 17 10417404 [A/G] NM_005963 MYH1 EXON Missense_R191C exm1294665 17 10418185 [A/G] NM_005963 MYH1 EXON Missense_T178I exm1294678 17 10419515 [T/C] NM_005963 MYH1 Silent exm1874764 17 10419556 [A/G] NM_005963 MYH1 EXON Missense_L103P exm1294685 17 10419656 [T/C] NM_005963 MYH1 EXON Missense_V70I exm1294697 17 10419908 [A/G] NM_005963 MYH1 EXON Nonsense_R18X exm1294701 17 10424643 [T/C] NM_017534,NM_001100112 MYH2,MYH2 EXON Missense_R1927Q,Missense_R1927Q exm1294711 17 10426501 [A/G] NM_017534,NM_001100112 MYH2,MYH2 EXON Missense_T1860M,Missense_T1860M exm1294747 17 10428620 [T/C] NM_017534,NM_001100112 MYH2,MYH2 EXON Missense_R1528H,Missense_R1528H exm1294755 17 10428863 [T/C] NM_017534,NM_001100112 MYH2,MYH2 EXON Missense_R1481H,Missense_R1481H exm1294758 17 10428926 [C/G] NM_017534,NM_001100112 MYH2,MYH2 EXON Missense_A1460G,Missense_A1460G exm1294762 17 10429051 [T/C] NM_017534,NM_001100112 MYH2,MYH2 EXON Missense_A1444T,Missense_A1444T exm1294764 17 10429077 [A/G] NM_017534,NM_001100112 MYH2,MYH2 EXON Missense_M1435T,Missense_M1435T exm1874792 17 10429123 [A/G] NM_017534,NM_001100112 MYH2,MYH2 EXON Missense_L1420F,Missense_L1420F exm1294787 17 10430361 [T/C] NM_017534,NM_001100112 MYH2,MYH2 EXON Missense_R1295H,Missense_R1295H exm1294791 17 10431116 [A/G] NM_017534,NM_001100112 MYH2,MYH2 EXON Missense_R1274W,Missense_R1274W exm1294796 17 10432023 [A/G] NM_017534,NM_001100112 MYH2,MYH2 EXON Missense_T1243M,Missense_T1243M exm1294799 17 10432068 [T/C] NM_017534,NM_001100112 MYH2,MYH2 EXON Missense_S1228N,Missense_S1228N exm2225685 17 10432499 [T/C] NM_017534,NM_001100112 MYH2,MYH2 EXON Missense_K1112E,Missense_K1112E exm1294814 17 10432525 [A/T] NM_017534,NM_001100112 MYH2,MYH2 EXON Missense_E1103V,Missense_E1103V exm1294816 17 10432735 [G/C] NM_017534,NM_001100112 MYH2,MYH2 EXON Missense_L1061V,Missense_L1061V exm1294817 17 10432788 [A/G] NM_017534,NM_001100112 MYH2,MYH2 EXON Missense_S1043F,Missense_S1043F exm1294818 17 10432789 [A/C] NM_017534,NM_001100112 MYH2,MYH2 EXON Missense_S1043A,Missense_S1043A exm1294844 17 10435021 [T/C] NM_017534,NM_001100112 MYH2,MYH2 EXON Missense_R876G,Missense_R876G exm1294845 17 10435082 [T/C] NM_017534,NM_001100112 MYH2,MYH2 EXON Missense_M855I,Missense_M855I exm1874820 17 10436629 [A/G] NM_017534,NM_001100112 MYH2,MYH2 EXON Missense_V805A,Missense_V805A exm1294864 17 10436860 [A/G] NM_017534,NM_001100112 MYH2,MYH2 EXON Missense_I757T,Missense_I757T exm2274906 17 10436864 [T/C] NM_017534,NM_001100112 MYH2,MYH2 EXON Missense_D756N,Missense_D756N exm1874833 17 10438683 [G/C] NM_017534,NM_001100112 MYH2,MYH2 Silent,Silent exm1294896 17 10442604 [T/C] NM_017534,NM_001100112 MYH2,MYH2 EXON Missense_R445H,Missense_R445H exm1294898 17 10442638 [T/C] NM_017534,NM_001100112 MYH2,MYH2 EXON Missense_V434I,Missense_V434I exm1294902 17 10442777 [G/C] NM_017534,NM_001100112 MYH2,MYH2 EXON Missense_G417A,Missense_G417A exm1294903 17 10442778 [T/C] NM_017534,NM_001100112 MYH2,MYH2 EXON Missense_G417S,Missense_G417S exm1294907 17 10442853 [T/C] NM_017534,NM_001100112 MYH2,MYH2 EXON Missense_S392G,Missense_S392G exm1294939 17 10450808 [A/G] NM_017534,NM_001100112 MYH2,MYH2 EXON Missense_A111V,Missense_A111V exm1294964 17 10533033 [A/G] NM_002470 MYH3 EXON Missense_H1893Y exm1294965 17 10533050 [T/C] NM_002470 MYH3 EXON Missense_D1887G exm1294988 17 10534960 [T/C] NM_002470 MYH3 EXON Missense_A1752T exm1294989 17 10534983 [T/C] NM_002470 MYH3 EXON Missense_D1744G exm1874904 17 10535216 [T/C] NM_002470 MYH3 EXON Missense_T1692A exm1295012 17 10535839 [A/G] NM_002470 MYH3 EXON Missense_A1637V exm1295017 17 10535930 [A/G] NM_002470 MYH3 EXON Missense_R1607W exm1295019 17 10535939 [T/C] NM_002470 MYH3 EXON Missense_A1604T exm1295026 17 10536949 [C/G] NM_002470 MYH3 EXON Missense_L1536V exm1295055 17 10539089 [A/G] NM_002470 MYH3 EXON Missense_T1313I exm1295056 17 10539115 [A/C] NM_002470 MYH3 EXON Missense_R1304S exm1295065 17 10541251 [A/G] NM_002470 MYH3 EXON Missense_A1244V exm1295072 17 10541497 [T/C] NM_002470 MYH3 EXON Missense_A1198T exm1295073 17 10541514 [A/G] NM_002470 MYH3 EXON Missense_A1192V exm1295074 17 10541515 [T/C] NM_002470 MYH3 EXON Missense_A1192T exm1295078 17 10541557 [T/C] NM_002470 MYH3 EXON Missense_D1178N exm1295081 17 10541610 [A/G] NM_002470 MYH3 EXON Missense_T1160M exm1295088 17 10541644 [C/G] NM_002470 MYH3 EXON Missense_E1149Q exm1295093 17 10541680 [A/G] NM_002470 MYH3 EXON Missense_R1137C exm1295094 17 10541700 [T/C] NM_002470 MYH3 EXON Missense_R1130H exm1295104 17 10542472 [T/C] NM_002470 MYH3 EXON Missense_R1046Q exm1295110 17 10542709 [A/G] NM_002470 MYH3 EXON Missense_A1003V exm1295119 17 10542989 [A/G] NM_002470 MYH3 EXON Missense_T938M exm1295131 17 10543509 [A/G] NM_002470 MYH3 EXON Missense_P829L exm1295157 17 10545910 [T/C] NM_002470 MYH3 EXON Missense_K571R exm1295170 17 10546313 [A/G] NM_002470 MYH3 EXON Missense_Y471H exm1295192 17 10550522 [G/C] NM_002470 MYH3 EXON Missense_S292C exm1295211 17 10554922 [T/C] NM_002470 MYH3 EXON Missense_E138K exm1295217 17 10555738 [T/C] NM_002470 MYH3 EXON Missense_Y116C exm1295224 17 10558216 [G/C] NM_002470 MYH3 EXON Missense_Q56E exm1295225 17 10558264 [T/C] NM_002470 MYH3 EXON Missense_V40M exm-rs6503319 17 10574159 [T/C] exm1295246 17 10596093 [T/C] NM_004589 SCO1 EXON Missense_V184M exm1295251 17 10599080 [T/G] NM_004589 SCO1 EXON Missense_H114Q exm1295272 17 10600784 [A/G] NM_004589 SCO1 EXON Missense_P14L exm1295276 17 10600809 [C/G] NM_004589 SCO1 EXON Missense_L6V exm1295279 17 10600820 [T/G] NM_004589 SCO1 EXON Missense_A2E exm1295284 17 10608307 [A/G] NM_020233 ADPRM EXON Missense_V22I exm1295293 17 10608518 [T/G] NM_020233 ADPRM EXON Missense_L92R exm1295294 17 10608529 [A/G] NM_020233 ADPRM EXON Missense_M96V exm1295308 17 10609757 [T/C] NM_020233 ADPRM EXON Missense_L202F exm1295310 17 10614174 [A/G] NM_020233 ADPRM EXON Missense_A248T exm1295316 17 10614403 [A/G] NM_020233 ADPRM EXON Missense_R324K exm1295318 17 10614442 [A/G] NM_020233 ADPRM EXON Missense_E337G exm1295324 17 10618792 [G/C] NM_001004313 TMEM220 EXON Missense_T154S exm1875028 17 10618807 [T/C] NM_001004313 TMEM220 EXON Missense_R149Q exm1295326 17 10618883 [A/G] NM_001004313 TMEM220 EXON Nonsense_Q124X exm1295330 17 10628364 [T/C] NM_001004313 TMEM220 EXON Missense_R84H exm1295332 17 10628403 [A/G] NM_001004313 TMEM220 EXON Missense_T71M exm1295333 17 10628422 [T/C] NM_001004313 TMEM220 EXON Missense_I65V exm1295335 17 10629572 [T/C] NM_001004313 TMEM220 EXON Missense_T38A exm2264639 17 10667638 [A/C] NR_073455,NR_073456,NR_073457,NR_073458 TMEM220-AS1,TMEM220-AS1,TMEM220-AS1,TMEM220-AS1 Silent,Silent,Silent,Silent exm1295346 17 10728553 [T/C] NM_001101387 PIRT EXON Missense_R137H exm1295348 17 10728581 [A/G] NM_001101387 PIRT EXON Missense_R128C exm1295350 17 10728592 [A/G] NM_001101387 PIRT EXON Missense_S124L exm1295356 17 10728806 [A/G] NM_001101387 PIRT EXON Missense_R53C exm1295363 17 10728955 [A/C] NM_001101387 PIRT EXON Missense_M3R exm1295364 17 10728958 [A/G] NM_001101387 PIRT EXON Missense_T2M exm2260618 17 11025242 [T/C] exm1295374 17 11166786 [A/G] NM_001173462,NM_207386,NM_001173461 SHISA6,SHISA6,SHISA6 EXON Missense_V248I,Missense_V248I,Missense_V248I exm2267983 17 11224534 [A/G] NM_001173462,NM_207386,NM_001173461 SHISA6,SHISA6,SHISA6 Silent,Silent,Silent exm2225696 17 11461107 [A/G] NM_001173462,NM_207386,NM_001173461 SHISA6,SHISA6,SHISA6 EXON Missense_R362Q,Missense_R381Q,Missense_R330Q exm1295384 17 11461191 [A/G] NM_001173462,NM_207386,NM_001173461 SHISA6,SHISA6,SHISA6 EXON Missense_R390Q,Missense_R409Q,Missense_R358Q exm1295387 17 11461353 [A/G] NM_001173462,NM_207386,NM_001173461 SHISA6,SHISA6,SHISA6 EXON Missense_R444Q,Missense_R463Q,Missense_R412Q exm2272488 17 11490257 [T/C] exm1295412 17 11511480 [A/G] NM_001372 DNAH9 EXON Missense_R151H exm1295422 17 11513748 [T/C] NM_001372 DNAH9 EXON Missense_I217T exm1295424 17 11513807 [T/C] NM_001372 DNAH9 EXON Missense_S237P exm1875070 17 11520775 [T/C] NM_001372 DNAH9 EXON Missense_R318C exm2225698 17 11520833 [T/C] NM_001372 DNAH9 EXON Missense_P337L exm1295442 17 11523061 [A/G] NM_001372 DNAH9 EXON Missense_R438Q exm1295445 17 11523089 [A/C] NM_001372 DNAH9 EXON Missense_H447Q exm1295450 17 11532791 [A/G] NM_001372 DNAH9 EXON Missense_V470I exm1875082 17 11532900 [T/C] NM_001372 DNAH9 EXON Missense_T506M exm1295460 17 11535956 [A/G] NM_001372 DNAH9 EXON Missense_R524Q exm1295463 17 11535989 [A/G] NM_001372 DNAH9 EXON Missense_D535G exm1295472 17 11540086 [A/G] NM_001372 DNAH9 EXON Missense_E591K exm1295474 17 11540100 [T/G] NM_001372 DNAH9 EXON Synonymous_L595L exm1295475 17 11543588 [A/G] NM_001372 DNAH9 EXON Synonymous_G596G exm1295476 17 11543596 [T/C] NM_001372 DNAH9 EXON Missense_P599L exm1295477 17 11543610 [A/G] NM_001372 DNAH9 EXON Missense_M604V exm1295481 17 11543688 [T/C] NM_001372 DNAH9 EXON Missense_R630C exm1295482 17 11543689 [A/G] NM_001372 DNAH9 EXON Missense_R630H exm1295491 17 11550421 [A/G] NM_001372 DNAH9 EXON Missense_R668Q exm1295494 17 11550484 [T/C] NM_001372 DNAH9 EXON Missense_T689M exm1295507 17 11554599 [T/C] NM_001372 DNAH9 EXON Missense_R771C exm1295517 17 11556243 [A/G] NM_001372 DNAH9 EXON Missense_D840G exm1295518 17 11556248 [T/C] NM_001372 DNAH9 EXON Missense_R842W exm1295519 17 11556258 [A/G] NM_001372 DNAH9 EXON Missense_R845Q exm1875109 17 11568172 [T/C] NM_001372 DNAH9 EXON Missense_A873V exm1295523 17 11568213 [A/G] NM_001372 DNAH9 EXON Missense_I887V exm1295537 17 11572727 [A/G] NM_001372 DNAH9 EXON Missense_R990H exm1295541 17 11572808 [A/G] NM_001372 DNAH9 EXON Missense_Y1017C exm1295552 17 11573101 [A/G] NM_001372 DNAH9 EXON Missense_V1115I exm1295556 17 11583139 [A/G] NM_001372 DNAH9 EXON Missense_G1140E exm1295560 17 11583192 [T/C] NM_001372 DNAH9 EXON Missense_R1158W exm1295565 17 11584056 [C/G] NM_001372 DNAH9 EXON Missense_W1198S exm1295567 17 11584124 [A/G] NM_001372 DNAH9 EXON Missense_T1221A exm1295575 17 11593065 [T/G] NM_001372 DNAH9 EXON Missense_I1309S exm1295585 17 11593386 [A/G] NM_001372 DNAH9 EXON Missense_Y1416C exm1875130 17 11593434 [A/G] NM_001372 DNAH9 EXON Missense_G1432D exm1295591 17 11593505 [T/C] NM_001372 DNAH9 EXON Missense_R1456W exm1295596 17 11593560 [A/G] NM_001372 DNAH9 EXON Missense_D1474G exm1295606 17 11593737 [A/G] NM_001372 DNAH9 EXON Missense_R1533Q exm1295607 17 11593743 [A/G] NM_001372 DNAH9 EXON Missense_Q1535R exm1295614 17 11597239 [T/G] NM_001372 DNAH9 EXON Missense_A1557S exm1295619 17 11597289 [T/G] NM_001372 DNAH9 EXON Nonsense_Y1573X exm1295620 17 11597308 [C/G] NM_001372 DNAH9 EXON Missense_Q1580E exm1295621 17 11597310 [C/G] NM_001372 DNAH9 EXON Missense_Q1580H exm1295629 17 11603094 [A/G] NM_001372 DNAH9 EXON Missense_R1640Q exm1875143 17 11603111 [A/G] NM_001372 DNAH9 EXON Missense_S1646G exm1295638 17 11604478 [T/G] NM_001372 DNAH9 EXON Missense_A1689S exm1295644 17 11607563 [A/G] NM_001372 DNAH9 EXON Missense_G1732D exm1295652 17 11608399 [A/G] NM_001372 DNAH9 EXON Missense_E1817K exm1875153 17 11608475 [A/G] NM_001372 DNAH9 EXON Missense_R1842H exm1295661 17 11622752 [A/G] NM_001372 DNAH9 EXON Missense_R1885H exm1295675 17 11642231 [A/G] NM_001372 DNAH9 EXON Missense_K1950R exm2225702 17 11648150 [A/G] NM_001372 DNAH9 EXON Missense_V2050M exm1295690 17 11648225 [T/C] NM_001372 DNAH9 EXON Missense_R2075W exm1295692 17 11648237 [A/G] NM_001372 DNAH9 EXON Missense_I2079V exm1295693 17 11648261 [A/G] NM_001372 DNAH9 EXON Missense_M2087V exm1295707 17 11648379 [T/C] NM_001372 DNAH9 EXON Missense_A2126V exm1295712 17 11650903 [T/C] NM_001372 DNAH9 EXON Missense_R2144W exm2276485 17 11650904 [A/G] NM_001372 DNAH9 EXON Missense_R2144Q exm1875174 17 11650928 [A/G] NM_001372 DNAH9 EXON Missense_G2152D exm1295714 17 11650958 [A/G] NM_001372 DNAH9 EXON Missense_R2162K exm1295722 17 11651050 [A/G] NM_001372 DNAH9 EXON Missense_I2193V exm1295723 17 11651057 [A/G] NM_001372 DNAH9 EXON Missense_N2195S exm1295728 17 11659885 [A/G] NM_001372 DNAH9 EXON Missense_V2247M exm1295729 17 11659916 [T/C] NM_001372 DNAH9 EXON Missense_P2257L exm1295732 17 11659961 [A/G] NM_001372 DNAH9 EXON Missense_R2272H exm1295740 17 11660960 [A/G] NM_001372 DNAH9 EXON Missense_I2316V exm1295744 17 11666861 [A/G] NM_001372 DNAH9 EXON Missense_K2367R exm1295750 17 11666930 [A/C] NM_001372 DNAH9 EXON Missense_Q2390P exm1295763 17 11672500 [T/C] NM_001372 DNAH9 EXON Missense_A2469V exm1875188 17 11672509 [A/G] NM_001372 DNAH9 EXON Missense_R2472Q exm1295764 17 11672523 [A/G] NM_001372 DNAH9 EXON Missense_V2477M exm1295765 17 11672550 [T/G] NM_001372 DNAH9 EXON Missense_V2486L exm1295768 17 11672607 [T/G] NM_001372 DNAH9 EXON Missense_V2505L exm1295777 17 11684467 [A/G] NM_001372 DNAH9 EXON Missense_R2565Q exm1295784 17 11687629 [A/G] NM_001372 DNAH9 EXON Missense_V2612M exm2225704 17 11687689 [T/A] NM_001372 DNAH9 EXON Missense_T2632S exm1295794 17 11687744 [T/C] NM_001372 DNAH9 EXON Missense_P2650L exm1295807 17 11701104 [A/G] NM_001372 DNAH9 EXON Missense_R2805H exm1295811 17 11711054 [A/G] NM_001372 DNAH9 EXON Missense_H2809R exm1295820 17 11711095 [A/C] NM_001372 DNAH9 EXON Missense_L2823M exm1295822 17 11711183 [A/G] NM_001372 DNAH9 EXON Missense_R2852H exm1295824 17 11713566 [A/G] NM_001372 DNAH9 EXON Missense_D2863N exm1295829 17 11713642 [T/C] NM_001372 DNAH9 EXON Missense_A2888V exm1295836 17 11725365 [T/C] NM_001372 DNAH9 EXON Missense_R2946W exm1295838 17 11725786 [A/G] NM_001372 DNAH9 EXON Missense_K2961R exm1875215 17 11725797 [T/C] NM_001372 DNAH9 EXON Missense_R2965C exm1295839 17 11725808 [T/G] NM_001372 DNAH9 EXON Missense_K2968N exm1295841 17 11725851 [A/G] NM_001372 DNAH9 EXON Missense_E2983K exm1295848 17 11726247 [A/G] NM_001372 DNAH9 EXON Missense_I3048V exm1295858 17 11738108 [A/G] NM_001372 DNAH9 EXON Missense_V3134I exm1295872 17 11757392 [T/G] NM_001372 DNAH9 EXON Missense_V3194L exm1295875 17 11757440 [T/G] NM_001372 DNAH9 EXON Missense_A3210S exm1295884 17 11757573 [T/G] NM_001372 DNAH9 EXON Missense_F3254C exm1295890 17 11757743 [A/G] NM_001372 DNAH9 EXON Missense_A3311T exm1295898 17 11774931 [T/C] NM_001372 DNAH9 EXON Missense_S3357F exm1295907 17 11778273 [T/G] NM_001372 DNAH9 EXON Missense_I3417S exm1295910 17 11778344 [A/G] NM_001372 DNAH9 EXON Missense_E3441K exm2252846 17 11778358 [T/C] NM_001372 DNAH9 EXON Synonymous_A3445A exm1295916 17 11778483 [T/C] NM_001372 DNAH9 EXON Missense_T3487M exm1295917 17 11783395 [T/C] NM_001372 DNAH9 EXON Synonymous_G3493G exm1295919 17 11783471 [A/C] NM_001372 DNAH9 EXON Missense_P3519T exm1295921 17 11783517 [A/G] NM_001372 DNAH9 EXON Missense_R3534Q exm2225706 17 11784662 [A/G] NM_001372 DNAH9 EXON Missense_D3580N exm1295935 17 11786984 [T/G] NM_001372,NM_004662 DNAH9,DNAH9 EXON Missense_A3630S,Silent exm1295936 17 11787008 [A/G] NM_001372,NM_004662 DNAH9,DNAH9 EXON Missense_T3638A,Silent exm1295937 17 11790161 [A/C] NM_001372,NM_004662 DNAH9,DNAH9 EXON Missense_T3664N,Silent exm1295939 17 11790209 [T/C] NM_001372,NM_004662 DNAH9,DNAH9 EXON Missense_A3680V,Silent exm1295940 17 11790227 [A/G] NM_001372,NM_004662 DNAH9,DNAH9 EXON Missense_Y3686C,Silent exm1295943 17 11790244 [T/C] NM_001372,NM_004662 DNAH9,DNAH9 EXON Missense_L3692F,Missense_L4F exm1295949 17 11795157 [T/C] NM_001372,NM_004662 DNAH9,DNAH9 EXON Missense_R3726W,Missense_R38W exm1295950 17 11795158 [A/G] NM_001372,NM_004662 DNAH9,DNAH9 EXON Missense_R3726Q,Missense_R38Q exm1295956 17 11797748 [T/C] NM_001372,NM_004662 DNAH9,DNAH9 EXON Missense_P3781S,Missense_P93S exm1295958 17 11797758 [T/C] NM_001372,NM_004662 DNAH9,DNAH9 EXON Missense_T3784M,Missense_T96M exm1295963 17 11806073 [A/G] NM_001372,NM_004662 DNAH9,DNAH9 EXON Missense_R3815Q,Missense_R127Q exm1295967 17 11806164 [C/G] NM_001372,NM_004662 DNAH9,DNAH9 EXON Missense_K3845N,Missense_K157N exm1295979 17 11809124 [A/G] NM_001372,NM_004662 DNAH9,DNAH9 EXON Missense_Q3916R,Missense_Q228R exm1295985 17 11827206 [T/C] NM_001372,NM_004662 DNAH9,DNAH9 EXON Missense_A3942V,Missense_A254V exm1295992 17 11833226 [A/T] NM_001372,NM_004662 DNAH9,DNAH9 EXON Missense_K3974M,Missense_K286M exm1296001 17 11835329 [A/G] NM_001372,NM_004662 DNAH9,DNAH9 Silent,Silent exm1296002 17 11835331 [A/G] NM_001372,NM_004662 DNAH9,DNAH9 EXON Missense_D4036N,Missense_D348N exm1296005 17 11835374 [T/C] NM_001372,NM_004662 DNAH9,DNAH9 EXON Missense_I4050T,Missense_I362T exm1296010 17 11835418 [T/C] NM_001372,NM_004662 DNAH9,DNAH9 EXON Nonsense_R4065X,Nonsense_R377X exm1296021 17 11840674 [C/G] NM_001372,NM_004662 DNAH9,DNAH9 EXON Missense_I4165M,Missense_I477M exm1296024 17 11840723 [A/C] NM_001372,NM_004662 DNAH9,DNAH9 EXON Missense_N4182H,Missense_N494H exm1296027 17 11840819 [T/G] NM_001372,NM_004662 DNAH9,DNAH9 EXON Missense_G4214C,Missense_G526C exm1296035 17 11845741 [A/G] NM_001372,NM_004662 DNAH9,DNAH9 EXON Missense_R4261Q,Missense_R573Q exm1296041 17 11845794 [A/G] NM_001372,NM_004662 DNAH9,DNAH9 EXON Missense_G4279S,Missense_G591S exm1296047 17 11865266 [A/G] NM_001372,NM_004662 DNAH9,DNAH9 EXON Missense_R4309Q,Missense_R621Q exm1296056 17 11865462 [A/G] NM_001372,NM_004662 DNAH9,DNAH9 EXON Missense_M4374I,Missense_M686I exm1296067 17 11872710 [T/C] NM_001372,NM_004662 DNAH9,DNAH9 EXON Missense_R4443C,Missense_R755C exm1296069 17 11872743 [A/G] NM_001372,NM_004662 DNAH9,DNAH9 EXON Missense_S4454G,Missense_S766G exm1296072 17 11872767 [T/C] NM_001372,NM_004662 DNAH9,DNAH9 EXON Missense_W4462R,Missense_W774R exm1296082 17 11881356 [A/G] NM_144680 ZNF18 EXON Missense_S523L exm1296088 17 11881498 [A/G] NM_144680 ZNF18 EXON Missense_F476L exm1296089 17 11881524 [T/C] NM_144680 ZNF18 EXON Missense_D467G exm1296097 17 11881650 [A/C] NM_144680 ZNF18 EXON Missense_F425C exm1875321 17 11881752 [G/C] NM_144680 ZNF18 EXON Missense_R391T exm1296101 17 11881785 [T/C] NM_144680 ZNF18 EXON Missense_G380E exm1296102 17 11881792 [T/G] NM_144680 ZNF18 EXON Missense_H378N exm1296119 17 11886659 [T/G] NM_144680 ZNF18 EXON Missense_I273L exm1296131 17 11894428 [A/G] NM_144680 ZNF18 EXON Missense_P147L exm1296134 17 11895783 [T/C] NM_144680 ZNF18 EXON Missense_D122N exm1296137 17 11895946 [G/C] NM_144680 ZNF18 EXON Missense_F67L exm1296146 17 11896106 [A/G] NM_144680 ZNF18 EXON Missense_S14L exm2272489 17 12171195 [T/G] exm2260619 17 12205234 [A/G] exm2252848 17 12471886 [A/G] NR_034144,NR_034145 LINC00670,LINC00670 Silent,Silent exm1296190 17 12618845 [T/G] NM_001146312,NM_153604 MYOCD,MYOCD EXON Missense_R44L,Missense_R44L exm1296192 17 12618877 [T/G] NM_001146312,NM_153604 MYOCD,MYOCD EXON Missense_L55V,Missense_L55V exm1296194 17 12620711 [A/G] NM_001146312,NM_153604 MYOCD,MYOCD EXON Missense_D76N,Missense_D76N exm2276486 17 12626184 [A/C] NM_001146312,NM_153604,NM_001146313 MYOCD,MYOCD,MYOCD EXON Missense_I92L,Missense_I92L,Silent exm1296199 17 12626218 [A/G] NM_001146312,NM_153604,NM_001146313 MYOCD,MYOCD,MYOCD EXON Missense_R103Q,Missense_R103Q,Missense_R7Q exm1296201 17 12626223 [A/G] NM_001146312,NM_153604,NM_001146313 MYOCD,MYOCD,MYOCD EXON Missense_A105T,Missense_A105T,Missense_A9T exm1296208 17 12639505 [T/C] NM_001146312,NM_153604,NM_001146313 MYOCD,MYOCD,MYOCD EXON Missense_T148M,Missense_T148M,Missense_T52M exm1296217 17 12639628 [T/C] NM_001146312,NM_153604,NM_001146313 MYOCD,MYOCD,MYOCD EXON Missense_S189L,Missense_S189L,Missense_S93L exm1296236 17 12647645 [A/G] NM_001146312,NM_153604,NM_001146313 MYOCD,MYOCD,MYOCD EXON Missense_R288Q,Missense_R288Q,Missense_R192Q exm1296246 17 12649295 [T/C] NM_001146312,NM_153604,NM_001146313 MYOCD,MYOCD,MYOCD EXON Missense_T344I,Missense_T344I,Missense_T248I exm1296253 17 12655839 [C/G] NM_001146312,NM_153604,NM_001146313 MYOCD,MYOCD,MYOCD EXON Missense_V412L,Missense_V412L,Missense_V316L exm1296256 17 12655857 [A/G] NM_001146312,NM_153604,NM_001146313 MYOCD,MYOCD,MYOCD EXON Missense_I418V,Missense_I418V,Missense_I322V exm1296260 17 12655938 [A/G] NM_001146312,NM_153604,NM_001146313 MYOCD,MYOCD,MYOCD EXON Missense_G445S,Missense_G445S,Missense_G349S exm1296261 17 12655959 [A/G] NM_001146312,NM_153604,NM_001146313 MYOCD,MYOCD,MYOCD EXON Missense_T452A,Missense_T452A,Missense_T356A exm1296270 17 12656052 [A/G] NM_001146312,NM_153604,NM_001146313 MYOCD,MYOCD,MYOCD EXON Missense_G483S,Missense_G483S,Missense_G387S exm1296273 17 12656076 [A/G] NM_001146312,NM_153604,NM_001146313 MYOCD,MYOCD,MYOCD EXON Missense_V491M,Missense_V491M,Missense_V395M exm1296274 17 12656111 [T/C] NM_001146312,NM_153604,NM_001146313 MYOCD,MYOCD,MYOCD EXON Synonymous_N502N,Synonymous_N502N,Synonymous_N406N exm2252849 17 12656111 [T/C] NM_001146312,NM_153604,NM_001146313 MYOCD,MYOCD,MYOCD EXON Synonymous_N502N,Synonymous_N502N,Synonymous_N406N exm1296288 17 12656407 [T/G] NM_001146312,NM_153604,NM_001146313 MYOCD,MYOCD,MYOCD EXON Missense_C601F,Missense_C601F,Missense_C505F exm1296294 17 12656490 [A/C] NM_001146312,NM_153604,NM_001146313 MYOCD,MYOCD,MYOCD EXON Missense_L629I,Missense_L629I,Missense_L533I exm1296306 17 12659792 [T/C] NM_001146312,NM_153604,NM_001146313 MYOCD,MYOCD,MYOCD EXON Missense_P707L,Silent,Missense_P611L exm1296310 17 12661522 [A/G] NM_001146312,NM_153604,NM_001146313 MYOCD,MYOCD,MYOCD EXON Missense_V775I,Missense_V727I,Missense_V679I exm1296321 17 12666408 [A/G] NM_001146312,NM_153604 MYOCD,MYOCD EXON Missense_R803K,Missense_R755K exm2225715 17 12666520 [A/C] NM_001146312,NM_153604 MYOCD,MYOCD EXON Missense_S840R,Missense_S792R exm1296331 17 12666691 [A/C] NM_001146312,NM_153604 MYOCD,MYOCD EXON Missense_D897E,Missense_D849E exm1296337 17 12666768 [C/G] NM_001146312,NM_153604 MYOCD,MYOCD EXON Missense_S923T,Missense_S875T exm1296338 17 12666792 [G/C] NM_001146312,NM_153604 MYOCD,MYOCD EXON Missense_T931S,Missense_T883S exm1296350 17 12798257 [A/G] NM_014859 ARHGAP44 EXON Synonymous_R18R exm1296359 17 12819243 [T/C] NM_014859 ARHGAP44 EXON Missense_T101M exm1875456 17 12862078 [A/G] NM_014859 ARHGAP44 EXON Missense_V463M exm1296431 17 12888157 [T/C] NM_014859 ARHGAP44 EXON Missense_A750V exm1296439 17 12893409 [A/G] NM_014859 ARHGAP44 EXON Missense_S793N exm1296447 17 12896212 [T/C] NM_001165962,NM_173717,NM_018127 ELAC2,ELAC2,ELAC2 EXON Missense_G762S,Missense_G801S,Missense_G802S exm1296453 17 12896274 [T/C] NM_001165962,NM_173717,NM_018127 ELAC2,ELAC2,ELAC2 EXON Missense_R741H,Missense_R780H,Missense_R781H exm2225717 17 12897108 [T/C] NM_001165962,NM_173717,NM_018127 ELAC2,ELAC2,ELAC2 EXON Missense_A677T,Missense_A716T,Missense_A717T exm1296472 17 12898186 [T/C] NM_001165962,NM_173717,NM_018127 ELAC2,ELAC2,ELAC2 EXON Missense_V602M,Missense_V641M,Missense_V642M exm1296473 17 12898282 [T/C] NM_001165962,NM_173717,NM_018127 ELAC2,ELAC2,ELAC2 EXON Missense_E596K,Missense_E635K,Missense_E636K exm1296477 17 12898323 [A/T] NM_001165962,NM_173717,NM_018127 ELAC2,ELAC2,ELAC2 EXON Missense_E582V,Missense_E621V,Missense_E622V exm1296488 17 12899902 [T/C] NM_001165962,NM_173717,NM_018127 ELAC2,ELAC2,ELAC2 EXON Missense_A501T,Missense_A540T,Missense_A541T exm1296501 17 12901781 [A/C] NM_001165962,NM_173717,NM_018127 ELAC2,ELAC2,ELAC2 EXON Missense_S450A,Missense_S489A,Missense_S490A exm2252851 17 12903507 [A/G] NM_001165962,NM_173717,NM_018127 ELAC2,ELAC2,ELAC2 EXON Synonymous_Y423Y,Synonymous_Y462Y,Synonymous_Y463Y exm1296518 17 12905790 [T/C] NM_001165962,NM_173717,NM_018127 ELAC2,ELAC2,ELAC2 EXON Missense_I356V,Missense_I396V,Missense_I396V exm1296524 17 12909099 [T/C] NM_001165962,NM_173717,NM_018127 ELAC2,ELAC2,ELAC2 EXON Missense_G241R,Missense_G281R,Missense_G281R exm1296536 17 12915009 [A/G] NM_001165962,NM_173717,NM_018127 ELAC2,ELAC2,ELAC2 EXON Silent,Missense_S217L,Missense_S217L exm1296537 17 12915027 [T/C] NM_001165962,NM_173717,NM_018127 ELAC2,ELAC2,ELAC2 EXON Silent,Missense_R211Q,Missense_R211Q exm1296541 17 12915101 [T/C] NM_001165962,NM_173717,NM_018127 ELAC2,ELAC2,ELAC2 Silent,Silent,Silent exm2260620 17 13003915 [T/C] exm2267985 17 13120952 [A/G] exm1296598 17 13400134 [T/C] NM_006042 HS3ST3A1 EXON Missense_D201N exm1296614 17 13504295 [T/C] NM_006042 HS3ST3A1 EXON Missense_G51D exm-rs10521232 17 13539804 [T/C] exm-rs4792394 17 13684917 [A/C] exm2272490 17 13704274 [T/C] exm-rs12949531 17 13733806 [T/C] exm2252857 17 13949828 [A/G] NR_049718 COX10-AS1 Silent exm1296629 17 13977679 [T/C] NM_001303 COX10 EXON Missense_T28I exm1296630 17 13977689 [A/C] NM_001303 COX10 EXON Missense_D31E exm1296636 17 13980134 [T/C] NM_001303 COX10 EXON Missense_T87I exm1296639 17 13980164 [A/G] NM_001303 COX10 EXON Missense_Y97C exm1296640 17 13980176 [T/C] NM_001303 COX10 EXON Missense_P101L exm1296641 17 13980185 [T/C] NM_001303 COX10 EXON Missense_P104L exm1296645 17 13980350 [A/G] NM_001303 COX10 EXON Missense_R159Q exm-rs2159132 17 14005439 [A/G] NM_001303 COX10 EXON Synonymous_L168L exm1296649 17 14005459 [T/C] NM_001303 COX10 EXON Missense_A175V exm1296656 17 14063251 [T/C] NM_001303 COX10 EXON Missense_R228C exm2225731 17 14095535 [T/G] NM_001303 COX10 EXON Missense_A309S exm1296690 17 14110391 [A/G] NM_001303 COX10 EXON Missense_R398H exm1296697 17 14110451 [A/C] NM_001303 COX10 EXON Missense_H418P exm1296759 17 14204987 [A/G] NM_006041 HS3ST3B1 EXON Missense_C51Y exm1296776 17 14248345 [A/G] NM_006041 HS3ST3B1 EXON Synonymous_R185R exm1296779 17 14248376 [A/G] NM_006041 HS3ST3B1 EXON Missense_I196V exm1875767 17 14248937 [A/G] NM_006041 HS3ST3B1 EXON Missense_T383A exm-rs3848445 17 14294021 [T/C] exm2260622 17 14450777 [A/G] exm2252858 17 14514409 [T/C] exm2252860 17 14922880 [A/G] exm1296827 17 15134314 [T/C] NM_153321,NM_000304,NM_153322 PMP22,PMP22,PMP22 EXON Missense_A135T,Missense_A135T,Missense_A135T exm1296832 17 15134364 [A/G] NM_153321,NM_000304,NM_153322 PMP22,PMP22,PMP22 EXON Missense_T118M,Missense_T118M,Missense_T118M exm1296850 17 15207417 [A/G] NM_031898 TEKT3 EXON Missense_R437C exm1296861 17 15212007 [A/C] NM_031898 TEKT3 EXON Missense_E410D exm1296865 17 15212099 [T/C] NM_031898 TEKT3 EXON Missense_E380K exm1296869 17 15215589 [A/G] NM_031898 TEKT3 EXON Missense_T363M exm1296876 17 15215749 [A/G] NM_031898 TEKT3 EXON Missense_R310C exm1296877 17 15215790 [A/G] NM_031898 TEKT3 EXON Missense_V296A exm1296883 17 15217437 [C/G] NM_031898 TEKT3 EXON Missense_G282A exm1296895 17 15222418 [A/G] NM_031898 TEKT3 EXON Missense_L237S exm1296900 17 15231310 [A/G] NM_031898 TEKT3 EXON Missense_T221M exm1296904 17 15231385 [T/C] NM_031898 TEKT3 EXON Missense_R196Q exm1296910 17 15234355 [T/C] NM_031898 TEKT3 EXON Missense_R183Q exm1296911 17 15234356 [A/G] NM_031898 TEKT3 EXON Missense_R183W exm1296912 17 15234412 [T/A] NM_031898 TEKT3 EXON Nonsense_L164X exm1296917 17 15234518 [T/G] NM_031898 TEKT3 EXON Missense_Q129K exm1296923 17 15234565 [T/G] NM_031898 TEKT3 EXON Missense_S113Y exm-IND17-15175443 17 15234719 [I/D] NM_031898 TEKT3 EXON exm1296938 17 15234797 [A/G] NM_031898 TEKT3 EXON Missense_R36C exm1296943 17 15234895 [T/C] NM_031898 TEKT3 EXON Missense_R3H exm1875901 17 15234899 [T/C] NM_031898 TEKT3 EXON Missense_E2K exm2252861 17 15298776 [T/C] exm-rs2906966 17 15331517 [T/G] exm1296951 17 15341161 [T/C] NR_037924,NM_001204478,NM_001204477 TVP23C-CDRT4,TVP23C-CDRT4,CDRT4 EXON Silent,Silent,Missense_T130A exm1296952 17 15341166 [G/C] NR_037924,NM_001204478,NM_001204477 TVP23C-CDRT4,TVP23C-CDRT4,CDRT4 EXON Silent,Silent,Missense_C128S exm1296953 17 15341181 [A/G] NR_037924,NM_001204478,NM_001204477 TVP23C-CDRT4,TVP23C-CDRT4,CDRT4 EXON Silent,Silent,Missense_A123V exm1296954 17 15341183 [A/C] NR_037924,NM_001204478,NM_001204477 TVP23C-CDRT4,TVP23C-CDRT4,CDRT4 EXON Silent,Silent,Missense_H122Q exm1296960 17 15341239 [T/C] NR_037924,NM_001204478,NM_001204477 TVP23C-CDRT4,TVP23C-CDRT4,CDRT4 EXON Silent,Silent,Missense_A104T exm2225740 17 15341322 [A/G] NR_037924,NM_001204478,NM_001204477 TVP23C-CDRT4,TVP23C-CDRT4,CDRT4 EXON Silent,Silent,Missense_P76L exm1296967 17 15341332 [T/C] NR_037924,NM_001204478,NM_001204477 TVP23C-CDRT4,TVP23C-CDRT4,CDRT4 EXON Silent,Silent,Missense_V73I exm1296969 17 15341382 [T/C] NR_037924,NM_001204478,NM_001204477 TVP23C-CDRT4,TVP23C-CDRT4,CDRT4 EXON Silent,Silent,Missense_R56H exm1296979 17 15343575 [A/T] NR_037924,NM_001204478,NM_001204477 TVP23C-CDRT4,TVP23C-CDRT4,CDRT4 EXON Silent,Missense_N163Y,Silent exm1296990 17 15406197 [T/A] NR_037924,NM_001204478,NM_145301 TVP23C-CDRT4,TVP23C-CDRT4,TVP23C EXON Silent,Silent,Missense_L271Q exm1296994 17 15406241 [A/C] NR_037924,NM_001204478,NM_145301 TVP23C-CDRT4,TVP23C-CDRT4,TVP23C EXON Silent,Silent,Missense_S256R exm1297001 17 15406371 [A/G] NR_037924,NM_001204478,NM_145301 TVP23C-CDRT4,TVP23C-CDRT4,TVP23C EXON Silent,Silent,Missense_L213P exm1297005 17 15406442 [G/C] NR_037924,NM_001204478,NM_145301 TVP23C-CDRT4,TVP23C-CDRT4,TVP23C EXON Silent,Silent,Missense_C189W exm-rs9911005 17 15412809 [A/G] NR_037924,NM_001204478,NM_145301 TVP23C-CDRT4,TVP23C-CDRT4,TVP23C Silent,Silent,Silent exm1297017 17 15449097 [A/C] NR_037924,NM_001204478,NM_145301,NM_001135036 TVP23C-CDRT4,TVP23C-CDRT4,TVP23C,TVP23C Silent,Silent,Silent,Silent exm2252862 17 15449153 [T/C] NR_037924,NM_001204478,NM_145301,NM_001135036 TVP23C-CDRT4,TVP23C-CDRT4,TVP23C,TVP23C EXON Silent,Synonymous_V136V,Synonymous_V136V,Synonymous_V136V exm1297057 17 15496727 [T/G] NM_006382 CDRT1 EXON Missense_N644H exm1297130 17 15522639 [T/G] NM_006382 CDRT1 EXON Missense_Q63P exm2225752 17 15532095 [A/C] NM_006470 TRIM16 EXON Missense_G510V exm1297145 17 15532132 [A/G] NM_006470 TRIM16 EXON Missense_Y498H exm2252863 17 15539425 [T/C] NM_006470 TRIM16 EXON Synonymous_R258R exm1297195 17 15554505 [A/G] NM_006470 TRIM16 EXON Missense_A140V exm1297198 17 15554561 [A/C] NM_006470 TRIM16 EXON Missense_E121D exm1297206 17 15554727 [T/C] NM_006470 TRIM16 EXON Missense_G66E exm1297228 17 15604541 [T/C] NM_020652,NM_001130842 ZNF286A,ZNF286A EXON Missense_T38M,Missense_T38M exm2276487 17 15609802 [A/C] NM_020652,NM_001130842 ZNF286A,ZNF286A EXON Missense_N76K,Missense_N76K exm1297237 17 15611486 [T/C] NM_020652,NM_001130842 ZNF286A,ZNF286A EXON Missense_P87S,Missense_P87S exm1297240 17 15611520 [T/C] NM_020652,NM_001130842 ZNF286A,ZNF286A EXON Missense_P98L,Missense_P98L exm1297241 17 15611539 [A/T] NM_020652,NM_001130842 ZNF286A,ZNF286A EXON Missense_K104N,Missense_K104N exm1297242 17 15611546 [A/C] NM_020652,NM_001130842 ZNF286A,ZNF286A EXON Missense_K107Q,Missense_K107Q exm1297297 17 15641642 [A/G] NM_178571 TBC1D26 EXON Missense_A110T exm1297321 17 15644553 [T/C] NM_178571 TBC1D26 EXON Missense_W222R exm2272493 17 15679601 [T/C] exm1297342 17 15848666 [T/C] NM_000676 ADORA2B EXON Missense_A35V exm1297344 17 15848690 [A/C] NM_000676 ADORA2B EXON Missense_N43T exm1297354 17 15848848 [T/C] NM_000676 ADORA2B EXON Missense_L96F exm1297358 17 15878018 [T/C] NM_000676 ADORA2B EXON Nonsense_R121X exm1297368 17 15878256 [T/G] NM_000676 ADORA2B EXON Missense_V200G exm1297376 17 15878534 [T/C] NM_000676 ADORA2B EXON Missense_R293W exm1297379 17 15878580 [A/G] NM_000676 ADORA2B EXON Missense_Y308C exm1297443 17 15909844 [T/C] NM_001271420,NM_017775 TTC19,TTC19 EXON Missense_I106T,Missense_I213T exm1297452 17 15928412 [T/C] NM_001271420,NM_017775 TTC19,TTC19 EXON Missense_P146L,Missense_P253L exm1297454 17 15928441 [T/G] NM_001271420,NM_017775 TTC19,TTC19 EXON Missense_A156S,Missense_A263S exm1297456 17 15928474 [A/G] NM_001271420,NM_017775 TTC19,TTC19 EXON Missense_R167G,Missense_R274G exm1297462 17 15929920 [A/C] NM_001271420,NM_017775 TTC19,TTC19 EXON Missense_I193L,Missense_I300L exm1297463 17 15929933 [C/G] NM_001271420,NM_017775 TTC19,TTC19 EXON Missense_R197T,Missense_R304T exm1297467 17 15930690 [T/C] NM_001271420,NM_017775 TTC19,TTC19 EXON Nonsense_R226X,Nonsense_R333X exm1297468 17 15930697 [T/C] NM_001271420,NM_017775 TTC19,TTC19 EXON Missense_T228I,Missense_T335I exm1297482 17 15935705 [C/G] NM_001190440,NM_006311 NCOR1,NCOR1 EXON Missense_Q2307E,Missense_Q2410E exm1297492 17 15938257 [T/C] NM_001190440,NM_006311 NCOR1,NCOR1 EXON Synonymous_G2216G,Synonymous_G2319G exm1297496 17 15942832 [T/C] NM_001190440,NM_006311 NCOR1,NCOR1 EXON Missense_M2187I,Missense_M2290I exm1297508 17 15950396 [T/C] NM_001190440,NM_006311 NCOR1,NCOR1 EXON Missense_R2080H,Missense_R2183H exm1297510 17 15950400 [T/C] NM_001190440,NM_006311 NCOR1,NCOR1 EXON Missense_A2079T,Missense_A2182T exm1297536 17 15961841 [A/G] NM_001190440,NM_006311 NCOR1,NCOR1 EXON Missense_P1882L,Missense_P1985L exm1297556 17 15965507 [T/C] NM_001190440,NM_006311 NCOR1,NCOR1 EXON Missense_M1783V,Missense_M1767V exm1297587 17 15973520 [A/G] NM_001190440,NM_006311 NCOR1,NCOR1 EXON Missense_T1507I,Missense_T1491I exm1297589 17 15973547 [T/C] NM_001190440,NM_006311 NCOR1,NCOR1 EXON Missense_R1498Q,Missense_R1482Q exm1297590 17 15973554 [T/C] NM_001190440,NM_006311 NCOR1,NCOR1 EXON Missense_S1496G,Missense_S1480G exm1297600 17 15973774 [T/G] NM_001190440,NM_006311 NCOR1,NCOR1 EXON Missense_L1422F,Missense_L1406F exm1297614 17 15976786 [T/G] NM_001190440,NM_006311 NCOR1,NCOR1 EXON Missense_Q1272H,Missense_Q1256H exm1297616 17 15976868 [T/C] NM_001190440,NM_006311 NCOR1,NCOR1 EXON Missense_R1245Q,Missense_R1229Q exm1297626 17 15983762 [G/C] NM_001190440,NM_006311 NCOR1,NCOR1 EXON Missense_E1136D,Missense_E1120D exm1297628 17 15983784 [T/C] NM_001190440,NM_006311 NCOR1,NCOR1 EXON Missense_R1129Q,Missense_R1113Q exm1297642 17 15995222 [T/C] NM_001190440,NM_006311,NM_001190438 NCOR1,NCOR1,NCOR1 EXON Missense_T1007A,Missense_T991A,Missense_T898A exm1297663 17 16004673 [T/C] NM_001190440,NM_006311,NM_001190438 NCOR1,NCOR1,NCOR1 EXON Missense_V877M,Missense_V861M,Missense_V768M exm1297729 17 16056696 [T/G] NM_001190440,NM_006311,NM_001190438 NCOR1,NCOR1,NCOR1 EXON Missense_E249A,Missense_E249A,Missense_E140A exm1297750 17 16068474 [A/T] NM_001190440,NM_006311,NM_001190438 NCOR1,NCOR1,NCOR1 EXON Missense_D146V,Missense_D146V,Missense_D37V exm1297757 17 16089962 [T/C] NM_001190440,NM_006311,NM_001190438 NCOR1,NCOR1,NCOR1 EXON Missense_V50M,Missense_V50M,Silent exm1297764 17 16097792 [T/C] NM_001190440,NM_006311,NM_001190438 NCOR1,NCOR1,NCOR1 EXON Missense_N31S,Missense_N31S,Missense_N31S exm1297766 17 16097808 [T/G] NM_001190440,NM_006311,NM_001190438 NCOR1,NCOR1,NCOR1 EXON Missense_Q26K,Missense_Q26K,Missense_Q26K exm1297784 17 16137382 [A/C] NM_004278 PIGL EXON Missense_N111K exm1297799 17 16203290 [A/C] NM_004278 PIGL EXON Missense_L142M exm1297801 17 16216873 [A/G] NM_004278 PIGL EXON Missense_D147N exm1297802 17 16216880 [C/G] NM_004278 PIGL EXON Missense_G149A exm1297809 17 16221158 [T/C] NM_004278 PIGL EXON Missense_L199S exm1297816 17 16229157 [A/G] NM_004278 PIGL EXON Missense_R235H exm1297825 17 16246254 [T/C] NM_181716 CENPV EXON Synonymous_G232G exm1297829 17 16247912 [A/G] NM_181716 CENPV EXON Synonymous_F231F exm1297914 17 16321176 [A/G] NM_016113 TRPV2 EXON Missense_G65D exm2272575 17 16322676 [T/C] NM_016113 TRPV2 Silent exm1297918 17 16323455 [A/G] NM_016113 TRPV2 EXON Missense_R76Q exm1876445 17 16323461 [A/G] NM_016113 TRPV2 EXON Missense_R78Q exm1297940 17 16326083 [A/G] NM_016113 TRPV2 EXON Missense_I169V exm1297958 17 16327079 [A/G] NM_016113 TRPV2 EXON Missense_E308K exm1297974 17 16331644 [T/G] NM_016113 TRPV2 EXON Missense_W455L exm1297980 17 16332191 [T/G] NM_016113 TRPV2 EXON Missense_W494C exm1297994 17 16335399 [A/G] NM_016113 TRPV2 EXON Missense_G592S exm1298008 17 16336996 [A/G] NM_016113 TRPV2 EXON Missense_E700K exm1298016 17 16338283 [T/C] NM_016113 TRPV2 EXON Nonsense_R732X exm1298018 17 16340177 [T/C] NM_016113 TRPV2 EXON Missense_P757S exm1298020 17 16340180 [A/G] NM_016113 TRPV2 EXON Missense_V758I exm1298022 17 16340316 [A/C] NM_016113 TRPV2 EXON Silent exm1298070 17 16347193 [A/G] NR_027177,NR_027172,NR_045023,NR_027171,NR_045025,NR_027178,NR_027174,NR_027176,NR_027175,NR_027173,NM_207387,NM_001113567 C17orf76-AS1,C17orf76-AS1,C17orf76-AS1,C17orf76-AS1,C17orf76-AS1,C17orf76-AS1,C17orf76-AS1,C17orf76-AS1,C17orf76-AS1,C17orf76-AS1,FAM211A,FAM211A EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Nonsense_R210X,Synonymous_R248R exm1298075 17 16347245 [T/C] NR_027177,NR_027172,NR_045023,NR_027171,NR_045025,NR_027178,NR_027174,NR_027176,NR_027175,NR_027173,NM_207387,NM_001113567 C17orf76-AS1,C17orf76-AS1,C17orf76-AS1,C17orf76-AS1,C17orf76-AS1,C17orf76-AS1,C17orf76-AS1,C17orf76-AS1,C17orf76-AS1,C17orf76-AS1,FAM211A,FAM211A EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Synonymous_P192P,Missense_R231H exm1298076 17 16347250 [T/C] NR_027177,NR_027172,NR_045023,NR_027171,NR_045025,NR_027178,NR_027174,NR_027176,NR_027175,NR_027173,NM_207387,NM_001113567 C17orf76-AS1,C17orf76-AS1,C17orf76-AS1,C17orf76-AS1,C17orf76-AS1,C17orf76-AS1,C17orf76-AS1,C17orf76-AS1,C17orf76-AS1,C17orf76-AS1,FAM211A,FAM211A EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_A191T,Synonymous_L229L exm1298077 17 16347288 [T/C] NR_027177,NR_027172,NR_045023,NR_027171,NR_045025,NR_027178,NR_027174,NR_027176,NR_027175,NR_027173,NM_207387,NM_001113567 C17orf76-AS1,C17orf76-AS1,C17orf76-AS1,C17orf76-AS1,C17orf76-AS1,C17orf76-AS1,C17orf76-AS1,C17orf76-AS1,C17orf76-AS1,C17orf76-AS1,FAM211A,FAM211A EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_R178Q,Missense_D217N exm1298079 17 16347325 [T/C] NR_027177,NR_027172,NR_045023,NR_027171,NR_045025,NR_027178,NR_027174,NR_027176,NR_027175,NR_027173,NM_207387,NM_001113567 C17orf76-AS1,C17orf76-AS1,C17orf76-AS1,C17orf76-AS1,C17orf76-AS1,C17orf76-AS1,C17orf76-AS1,C17orf76-AS1,C17orf76-AS1,C17orf76-AS1,FAM211A,FAM211A EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_R166G,Synonymous_V204V exm1298080 17 16347379 [A/G] NR_027177,NR_027172,NR_045023,NR_027171,NR_045025,NR_027178,NR_027174,NR_027176,NR_027175,NR_027173,NM_207387,NM_001113567 C17orf76-AS1,C17orf76-AS1,C17orf76-AS1,C17orf76-AS1,C17orf76-AS1,C17orf76-AS1,C17orf76-AS1,C17orf76-AS1,C17orf76-AS1,C17orf76-AS1,FAM211A,FAM211A EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_L148F,Synonymous_T186T exm1298085 17 16365574 [A/G] NR_027177,NR_027172,NR_045023,NR_027171,NR_045025,NR_027178,NR_027174,NR_027176,NR_027175,NR_027173,NM_207387,NM_001113567 C17orf76-AS1,C17orf76-AS1,C17orf76-AS1,C17orf76-AS1,C17orf76-AS1,C17orf76-AS1,C17orf76-AS1,C17orf76-AS1,C17orf76-AS1,C17orf76-AS1,FAM211A,FAM211A EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_P125S,Missense_P125S exm1298108 17 16455475 [T/C] NM_020653 ZNF287 EXON Missense_A661T exm1298136 17 16456614 [T/G] NM_020653 ZNF287 EXON Missense_K281T exm1298153 17 16470904 [A/G] NM_020653 ZNF287 EXON Missense_C48R exm1876571 17 16470918 [T/C] NM_020653 ZNF287 EXON Missense_R43H exm1298158 17 16525651 [A/C] NM_020787 ZNF624 EXON Missense_S850I exm1298177 17 16526399 [T/C] NM_020787 ZNF624 EXON Missense_V601I exm1298186 17 16526641 [T/C] NM_020787 ZNF624 EXON Missense_R520Q exm1298200 17 16526944 [T/C] NM_020787 ZNF624 EXON Missense_D419G exm1298218 17 16527530 [A/G] NM_020787 ZNF624 EXON Missense_C224R exm1298219 17 16527578 [T/C] NM_020787 ZNF624 EXON Missense_I208V exm1298220 17 16527618 [A/C] NM_020787 ZNF624 EXON Missense_K194N exm1298227 17 16527787 [T/C] NM_020787 ZNF624 EXON Missense_R138Q exm1298228 17 16527795 [A/C] NM_020787 ZNF624 EXON Missense_K135N exm1298230 17 16537270 [T/C] NM_020787 ZNF624 EXON Synonymous_G94G exm1298362 17 16842991 [A/G] NM_012452 TNFRSF13B EXON Missense_P251L exm1298368 17 16843084 [A/G] NM_012452 TNFRSF13B EXON Missense_V220A exm1298370 17 16843102 [A/G] NM_012452 TNFRSF13B EXON Missense_M214T exm1876714 17 16843106 [T/C] NM_012452 TNFRSF13B EXON Missense_A213T exm1298372 17 16843666 [T/C] NM_012452 TNFRSF13B EXON Missense_R202H exm1298373 17 16843667 [A/G] NM_012452 TNFRSF13B EXON Missense_R202C exm1298374 17 16843678 [T/C] NM_012452 TNFRSF13B EXON Missense_R198H exm1298375 17 16843679 [A/G] NM_012452 TNFRSF13B EXON Missense_R198C exm1298376 17 16843692 [T/G] NM_012452 TNFRSF13B EXON Nonsense_C193X exm1298380 17 16843708 [T/A] NM_012452 TNFRSF13B EXON Missense_K188M exm1298387 17 16843759 [A/C] NM_012452 TNFRSF13B EXON Missense_L171R exm1298390 17 16843819 [A/G] NM_012452 TNFRSF13B EXON Missense_P151L exm2272495 17 16845467 [T/C] NM_012452 TNFRSF13B Silent exm-rs4273077 17 16849139 [A/G] NM_012452 TNFRSF13B Silent exm1298396 17 16852133 [A/G] NM_012452 TNFRSF13B EXON Missense_R122W exm1298404 17 16852237 [T/A] NM_012452 TNFRSF13B EXON Missense_I87N exm1298405 17 16852261 [T/C] NM_012452 TNFRSF13B EXON Missense_Y79C exm1298406 17 16852282 [T/C] NM_012452 TNFRSF13B EXON Missense_R72H exm1298410 17 16855788 [G/C] NM_012452 TNFRSF13B EXON Missense_Q57H exm1876729 17 16855838 [C/G] NM_012452 TNFRSF13B EXON Missense_D41H exm1298413 17 16855841 [A/G] NM_012452 TNFRSF13B EXON Missense_W40R exm-rs11867934 17 16933404 [T/C] exm1298444 17 16979089 [A/G] NM_015134,NM_201274 MPRIP,MPRIP EXON Synonymous_V63V,Synonymous_V63V exm1298519 17 17050673 [A/G] NM_015134,NM_201274 MPRIP,MPRIP EXON Missense_R416K,Missense_R416K exm1298635 17 17076092 [A/G] NM_015134,NM_201274 MPRIP,MPRIP EXON Missense_V798I,Missense_V798I exm1298649 17 17079746 [T/C] NM_015134,NM_201274 MPRIP,MPRIP EXON Synonymous_L906L,Synonymous_L906L exm1298668 17 17088167 [T/C] NM_015134,NM_201274 MPRIP,MPRIP EXON Missense_R1026W,Silent exm1298675 17 17106130 [T/A] NM_178836 PLD6 EXON Nonsense_L237X exm1298677 17 17106148 [A/G] NM_178836 PLD6 EXON Missense_S231F exm1298705 17 17118314 [T/C] NM_144997 FLCN EXON Missense_K508R exm1298707 17 17118374 [A/G] NM_144997 FLCN EXON Missense_A488V exm1298719 17 17118595 [A/G] NM_144997 FLCN EXON Missense_R446C exm1298720 17 17118598 [T/C] NM_144997 FLCN EXON Missense_A445T exm1298734 17 17119793 [A/G] NM_144997 FLCN EXON Missense_R401C exm1298749 17 17122418 [A/G] NM_144997 FLCN EXON Missense_P326L exm1298750 17 17122436 [T/C] NM_144997 FLCN EXON Missense_R320Q exm1298761 17 17124730 [A/G] NM_144997,NM_144606 FLCN,FLCN EXON Silent,Missense_T331M exm1298764 17 17124804 [T/C] NM_144997,NM_144606 FLCN,FLCN EXON Silent,Nonsense_W306X exm1298766 17 17124815 [T/C] NM_144997,NM_144606 FLCN,FLCN EXON Silent,Missense_G303R exm1298768 17 17124829 [A/G] NM_144997,NM_144606 FLCN,FLCN EXON Silent,Missense_P298L exm1298769 17 17124835 [A/T] NM_144997,NM_144606 FLCN,FLCN EXON Silent,Missense_L296Q exm1298791 17 17127274 [A/G] NM_144997,NM_144606 FLCN,FLCN EXON Missense_R194W,Missense_R194W exm1298826 17 17150874 [T/C] NM_001199125,NM_003653 COPS3,COPS3 EXON Missense_M360V,Missense_M380V exm1876907 17 17158201 [T/C] NM_001199125,NM_003653 COPS3,COPS3 EXON Missense_Q312R,Missense_Q332R exm1298866 17 17174281 [A/G] NM_001199125,NM_003653 COPS3,COPS3 EXON Missense_T56M,Missense_T76M exm2252872 17 17193215 [T/C] exm1298896 17 17226560 [A/G] NM_020201 NT5M Silent exm1298899 17 17248214 [A/G] NM_020201 NT5M EXON Missense_D179G exm1298909 17 17250197 [A/G] NM_020201 NT5M EXON Missense_R208H exm1298910 17 17250200 [A/G] NM_020201 NT5M EXON Missense_R209H exm2268036 17 17292491 [A/G] exm1298918 17 17380518 [T/G] NM_018019 MED9 EXON Missense_A55S exm1298920 17 17394633 [A/G] NM_018019 MED9 EXON Missense_A89T exm1298922 17 17394660 [T/C] NM_018019 MED9 EXON Missense_R98C exm1298939 17 17398510 [A/G] NM_016084,NM_001199989 RASD1,RASD1 EXON Missense_L259F,Silent exm1298947 17 17398717 [T/C] NM_016084,NM_001199989 RASD1,RASD1 EXON Missense_A190T,Silent exm1298956 17 17399354 [T/G] NM_016084,NM_001199989 RASD1,RASD1 EXON Missense_R48S,Missense_R48S exm1298961 17 17399457 [T/G] NM_016084,NM_001199989 RASD1,RASD1 EXON Missense_S13R,Missense_S13R exm1298965 17 17409125 [T/C] NM_148172,NM_007169,NM_148173,NM_001267552,NM_001267551 PEMT,PEMT,PEMT,PEMT,PEMT EXON Missense_G231R,Missense_G194R,Missense_G194R,Silent,Missense_G209R exm1876953 17 17409139 [A/C] NM_148172,NM_007169,NM_148173,NM_001267552,NM_001267551 PEMT,PEMT,PEMT,PEMT,PEMT EXON Missense_R226L,Missense_R189L,Missense_R189L,Silent,Missense_R204L exm1298971 17 17409560 [T/C] NM_148172,NM_007169,NM_148173,NM_001267552,NM_001267551 PEMT,PEMT,PEMT,PEMT,PEMT EXON Missense_V212M,Missense_V175M,Missense_V175M,Missense_S222N,Missense_V190M exm1298984 17 17425631 [T/C] NM_148172,NM_007169,NM_148173,NM_001267552,NM_001267551 PEMT,PEMT,PEMT,PEMT,PEMT EXON Missense_V95I,Missense_V58I,Missense_V58I,Missense_V95I,Missense_V73I exm1298991 17 17425684 [T/C] NM_148172,NM_007169,NM_148173,NM_001267552,NM_001267551 PEMT,PEMT,PEMT,PEMT,PEMT EXON Missense_R77H,Missense_R40H,Missense_R40H,Missense_R77H,Missense_R55H exm1299003 17 17480305 [T/C] NM_148172,NM_007169,NM_148173,NM_001267552,NM_001267551 PEMT,PEMT,PEMT,PEMT,PEMT EXON Missense_V45M,Missense_V8M,Missense_V8M,Missense_V45M,Missense_V23M exm2225814 17 17480319 [T/C] NM_148172,NM_007169,NM_148173,NM_001267552,NM_001267551 PEMT,PEMT,PEMT,PEMT,PEMT EXON Missense_R40Q,Missense_R3Q,Missense_R3Q,Missense_R40Q,Missense_R18Q exm1299004 17 17480320 [A/G] NM_148172,NM_007169,NM_148173,NM_001267552,NM_001267551 PEMT,PEMT,PEMT,PEMT,PEMT EXON Missense_R40W,Missense_R3W,Missense_R3W,Missense_R40W,Missense_R18W exm1299012 17 17494909 [A/G] NM_148172,NM_001267552,NM_001267551 PEMT,PEMT,PEMT EXON Missense_V11A,Missense_V11A,Silent exm-rs12936587 17 17543722 [A/G] exm1299023 17 17696393 [A/G] NM_030665 RAI1 EXON Missense_R44Q exm1299033 17 17696563 [A/G] NM_030665 RAI1 EXON Missense_G101S exm1299044 17 17696755 [A/C] NM_030665 RAI1 EXON Missense_P165T exm1876978 17 17696778 [A/C] NM_030665 RAI1 EXON Missense_H172Q exm1299048 17 17696872 [T/C] NM_030665 RAI1 EXON Missense_P204S exm1299054 17 17696987 [T/C] NM_030665 RAI1 EXON Missense_P242L exm1299061 17 17697088 [T/G] NM_030665 RAI1 EXON Missense_Y276D exm1299070 17 17697098 [A/G] NM_030665 RAI1 EXON Missense_Q279R exm1299078 17 17697135 [A/C] NM_030665 RAI1 EXON Missense_Q291H exm1299080 17 17697137 [T/C] NM_030665 RAI1 EXON Missense_A292V exm1299119 17 17697800 [A/G] NM_030665 RAI1 EXON Missense_Q513R exm1299134 17 17698049 [A/G] NM_030665 RAI1 EXON Missense_R596Q exm1299138 17 17698099 [A/G] NM_030665 RAI1 EXON Missense_G613R exm2274908 17 17698166 [T/A] NM_030665 RAI1 EXON Missense_D635V exm1299164 17 17698606 [A/G] NM_030665 RAI1 EXON Missense_G782R exm1299208 17 17699917 [T/C] NM_030665 RAI1 EXON Missense_L1219F exm1299221 17 17700053 [A/G] NM_030665 RAI1 EXON Missense_E1264G exm1299225 17 17700088 [A/C] NM_030665 RAI1 EXON Missense_P1276T exm1299228 17 17700142 [T/C] NM_030665 RAI1 EXON Missense_P1294S exm1299237 17 17700301 [A/G] NM_030665 RAI1 EXON Missense_K1347E exm1299238 17 17700305 [T/C] NM_030665 RAI1 EXON Missense_A1348V exm1877010 17 17700557 [T/C] NM_030665 RAI1 EXON Missense_P1432L exm1299254 17 17700700 [A/G] NM_030665 RAI1 EXON Missense_R1480G exm1299267 17 17700914 [T/C] NM_030665 RAI1 EXON Missense_S1551L exm1299269 17 17700938 [A/G] NM_030665 RAI1 EXON Missense_R1559Q exm1299274 17 17700988 [T/C] NM_030665 RAI1 EXON Missense_R1576C exm1299283 17 17701172 [T/C] NM_030665 RAI1 EXON Missense_S1637L exm1299289 17 17701285 [G/C] NM_030665 RAI1 EXON Missense_V1675L exm1299290 17 17701298 [T/C] NM_030665 RAI1 EXON Missense_A1679V exm-rs11868035 17 17715101 [A/G] NM_004176,NM_001005291 SREBF1,SREBF1 EXON Silent,Silent exm2225819 17 17715971 [G/C] NM_004176,NM_001005291 SREBF1,SREBF1 EXON Missense_R1137G,Missense_R1167G exm1299335 17 17716759 [A/G] NM_004176,NM_001005291 SREBF1,SREBF1 EXON Missense_A1046V,Missense_A1076V exm1299344 17 17717013 [A/G] NM_004176,NM_001005291 SREBF1,SREBF1 EXON Missense_P991L,Missense_P1021L exm1299356 17 17717671 [A/C] NM_004176,NM_001005291 SREBF1,SREBF1 EXON Missense_L930R,Missense_L960R exm1299394 17 17719848 [A/G] NM_004176,NM_001005291 SREBF1,SREBF1 EXON Missense_A657V,Missense_A687V exm1877055 17 17719906 [A/G] NM_004176,NM_001005291 SREBF1,SREBF1 EXON Missense_R638C,Missense_R668C exm1299452 17 17722451 [A/G] NM_004176,NM_001005291 SREBF1,SREBF1 EXON Missense_P315L,Missense_P345L exm1299453 17 17722470 [T/C] NM_004176,NM_001005291 SREBF1,SREBF1 EXON Missense_A309T,Missense_A339T exm1299456 17 17722503 [T/C] NM_004176,NM_001005291 SREBF1,SREBF1 EXON Missense_V298I,Missense_V328I exm1877072 17 17722536 [T/C] NM_004176,NM_001005291 SREBF1,SREBF1 EXON Missense_G287S,Missense_G317S exm1299463 17 17722768 [T/C] NM_004176,NM_001005291 SREBF1,SREBF1 EXON Missense_V238I,Missense_V268I exm1299465 17 17722886 [A/G] NM_004176,NM_001005291 SREBF1,SREBF1 EXON Missense_T226M,Missense_T256M exm1877078 17 17723019 [C/G] NM_004176,NM_001005291 SREBF1,SREBF1 EXON Missense_Q182E,Missense_Q212E exm1299505 17 17726910 [T/C] NM_004176,NM_001005291 SREBF1,SREBF1 EXON Silent,Missense_A35T exm2272576 17 17735952 [T/C] NM_004176,NM_001005291 SREBF1,SREBF1 Silent,Silent exm1299514 17 17751014 [T/G] NM_001082968,NM_001033551 TOM1L2,TOM1L2 EXON Missense_P487T,Missense_P437T exm1299517 17 17751061 [A/G] NM_001082968,NM_001033551 TOM1L2,TOM1L2 EXON Missense_A471V,Missense_A421V exm1299526 17 17754260 [T/C] NM_001082968,NM_001033551 TOM1L2,TOM1L2 EXON Missense_V429I,Missense_V379I exm1299531 17 17766114 [A/C] NM_001082968,NM_001033551 TOM1L2,TOM1L2 EXON Missense_C378F,Missense_C328F exm1299566 17 17786042 [T/G] NM_001082968,NM_001033551 TOM1L2,TOM1L2 EXON Missense_P213T,Missense_P163T exm1299570 17 17786095 [A/G] NM_001082968,NM_001033551 TOM1L2,TOM1L2 EXON Missense_P195L,Missense_P145L exm1299572 17 17786137 [A/G] NM_001082968,NM_001033551 TOM1L2,TOM1L2 EXON Missense_S181F,Missense_S131F exm-rs4299203 17 17878159 [T/G] NM_001130091,NM_001130090,NM_001130092,NM_031294 LRRC48,LRRC48,LRRC48,LRRC48 Silent,Silent,Silent,Silent exm1299606 17 17881007 [A/G] NM_001130091,NM_001130090,NM_001130092,NM_031294 LRRC48,LRRC48,LRRC48,LRRC48 EXON Missense_G32E,Missense_G32E,Missense_G32E,Missense_G32E exm1877152 17 17881068 [T/G] NM_001130091,NM_001130090,NM_001130092,NM_031294 LRRC48,LRRC48,LRRC48,LRRC48 EXON Missense_F52L,Missense_F52L,Missense_F52L,Missense_F52L exm1299608 17 17881069 [T/C] NM_001130091,NM_001130090,NM_001130092,NM_031294 LRRC48,LRRC48,LRRC48,LRRC48 EXON Missense_R53W,Missense_R53W,Missense_R53W,Missense_R53W exm2267988 17 17884660 [A/G] NM_001130091,NM_001130090,NM_001130092,NM_031294 LRRC48,LRRC48,LRRC48,LRRC48 Silent,Silent,Silent,Silent exm1299609 17 17887186 [A/G] NM_001130091,NM_001130090,NM_001130092,NM_031294 LRRC48,LRRC48,LRRC48,LRRC48 EXON Missense_K69E,Missense_K69E,Missense_K69E,Missense_K69E exm1299611 17 17887226 [T/G] NM_001130091,NM_001130090,NM_001130092,NM_031294 LRRC48,LRRC48,LRRC48,LRRC48 EXON Missense_G82V,Missense_G82V,Missense_G82V,Missense_G82V exm1299618 17 17891359 [A/G] NM_001130091,NM_001130090,NM_001130092,NM_031294 LRRC48,LRRC48,LRRC48,LRRC48 EXON Missense_V131I,Missense_V131I,Missense_V131I,Missense_V131I exm1299627 17 17896110 [A/G] NM_001130091,NM_001130090,NM_001130092,NM_031294 LRRC48,LRRC48,LRRC48,LRRC48 EXON Missense_R159Q,Missense_R159Q,Missense_R159Q,Missense_R159Q exm1877161 17 17896209 [A/G] NM_001130091,NM_001130090,NM_001130092,NM_031294 LRRC48,LRRC48,LRRC48,LRRC48 EXON Missense_R192H,Missense_R192H,Missense_R192H,Missense_R192H exm1299636 17 17898345 [C/G] NM_001130091,NM_001130090,NM_001130092,NM_031294 LRRC48,LRRC48,LRRC48,LRRC48 EXON Missense_F248L,Missense_F248L,Missense_F248L,Missense_F248L exm1299641 17 17900878 [A/G] NM_001130091,NM_001130090,NM_001130092,NM_031294 LRRC48,LRRC48,LRRC48,LRRC48 EXON Missense_R310H,Missense_R310H,Missense_R310H,Missense_R310H exm1299643 17 17900920 [T/C] NM_001130091,NM_001130090,NM_001130092,NM_031294 LRRC48,LRRC48,LRRC48,LRRC48 EXON Missense_I324T,Missense_I324T,Missense_I324T,Missense_I324T exm1299645 17 17900944 [A/T] NM_001130091,NM_001130090,NM_001130092,NM_031294 LRRC48,LRRC48,LRRC48,LRRC48 EXON Nonsense_L332X,Nonsense_L332X,Nonsense_L332X,Nonsense_L332X exm1299647 17 17907714 [A/G] NM_001130091,NM_001130090,NM_001130092,NM_031294 LRRC48,LRRC48,LRRC48,LRRC48 EXON Missense_N346S,Missense_N346S,Missense_N346S,Missense_N346S exm1299648 17 17907768 [T/C] NM_001130091,NM_001130090,NM_001130092,NM_031294 LRRC48,LRRC48,LRRC48,LRRC48 EXON Missense_A364V,Missense_A364V,Missense_A364V,Missense_A364V exm1299652 17 17909524 [A/G] NM_001130091,NM_001130090,NM_001130092,NM_031294 LRRC48,LRRC48,LRRC48,LRRC48 EXON Missense_I387V,Missense_I387V,Missense_I387V,Missense_I387V exm1299663 17 17919385 [T/C] NM_001130090,NM_031294 LRRC48,LRRC48 EXON Missense_V445A,Missense_V445A exm1299665 17 17919397 [T/C] NM_001130090,NM_031294 LRRC48,LRRC48 EXON Missense_T449M,Missense_T449M exm2273545 17 17921843 [G/C] NM_145691 ATPAF2 EXON Silent exm1299686 17 17921939 [T/C] NM_145691 ATPAF2 EXON Missense_R265H exm1299691 17 17924447 [T/C] NM_145691 ATPAF2 EXON Missense_E241G exm1299697 17 17924535 [A/C] NM_145691 ATPAF2 EXON Missense_A212S exm1299707 17 17925164 [T/C] NM_145691 ATPAF2 EXON Missense_V171M exm1299723 17 17931587 [T/C] NM_145691 ATPAF2 EXON Missense_D95N exm1299732 17 17942194 [A/C] NM_145691 ATPAF2 Silent exm1299741 17 17942288 [C/G] NM_145691 ATPAF2 EXON Missense_R14G exm1299742 17 17942293 [T/C] NM_145691 ATPAF2 EXON Missense_G12E exm1299775 17 17997129 [T/A] NM_001388 DRG2 EXON Missense_T23S exm1299786 17 18002973 [T/G] NM_001388 DRG2 EXON Missense_A135S exm1299797 17 18003919 [A/G] NM_001388 DRG2 EXON Missense_V193I exm1877274 17 18022823 [A/G] NM_016239 MYO15A EXON Missense_D237N exm1299858 17 18022844 [A/G] NM_016239 MYO15A EXON Missense_D244N exm1299862 17 18022937 [C/G] NM_016239 MYO15A EXON Missense_G275R exm1299869 17 18022991 [A/G] NM_016239 MYO15A EXON Missense_D293N exm1299877 17 18023073 [C/G] NM_016239 MYO15A EXON Missense_S320W exm1299881 17 18023137 [A/C] NM_016239 MYO15A EXON Nonsense_Y341X exm1299884 17 18023157 [A/C] NM_016239 MYO15A EXON Missense_P348Q exm1299897 17 18023499 [A/G] NM_016239 MYO15A EXON Missense_G462D exm1299901 17 18023568 [T/C] NM_016239 MYO15A EXON Missense_V485A exm1299915 17 18023897 [A/G] NM_016239 MYO15A EXON Missense_A595T exm1299946 17 18024905 [A/G] NM_016239 MYO15A EXON Missense_V931M exm1299955 17 18025137 [C/G] NM_016239 MYO15A EXON Missense_T1008S exm1299956 17 18025140 [A/C] NM_016239 MYO15A EXON Missense_P1009H exm1299962 17 18025236 [A/C] NM_016239 MYO15A EXON Missense_P1041H exm1299966 17 18025310 [C/G] NM_016239 MYO15A EXON Missense_A1066P exm1299968 17 18025317 [T/G] NM_016239 MYO15A EXON Missense_C1068F exm1299977 17 18025473 [A/G] NM_016239 MYO15A EXON Missense_R1120H exm1299979 17 18025527 [A/G] NM_016239 MYO15A EXON Missense_Q1138R exm1299986 17 18027809 [T/C] NM_016239 MYO15A EXON Missense_R1208C exm1299988 17 18027834 [A/G] NM_016239 MYO15A EXON Missense_R1216H exm2274909 17 18027845 [A/G] NM_016239 MYO15A EXON Missense_G1220R exm1299991 17 18027846 [A/G] NM_016239 MYO15A EXON Missense_G1220E exm1299992 17 18028545 [T/C] NM_016239 MYO15A EXON Synonymous_Y1252Y exm1300011 17 18034551 [A/G] NM_016239 MYO15A EXON Missense_K1346R exm1300031 17 18039039 [T/G] NM_016239 MYO15A EXON Missense_E1499D exm1300049 17 18039990 [A/G] NM_016239 MYO15A EXON Missense_Y1590C exm2272497 17 18041507 [T/C] NM_016239 MYO15A EXON Synonymous_L1652L exm1300058 17 18041529 [A/G] NM_016239 MYO15A EXON Missense_R1659Q exm1300064 17 18042177 [T/C] NM_016239 MYO15A EXON Missense_P1687L exm1300086 17 18043906 [T/C] NM_016239 MYO15A EXON Missense_R1763W exm1300102 17 18045068 [A/G] NM_016239 MYO15A EXON Missense_R1878H exm1300120 17 18046074 [T/C] NM_016239 MYO15A EXON Missense_R1944C exm1300122 17 18046110 [T/C] NM_016239 MYO15A EXON Missense_R1956W exm1300126 17 18046138 [A/G] NM_016239 MYO15A EXON Missense_R1965H exm1300129 17 18047042 [A/G] NM_016239 MYO15A EXON Missense_R1993Q exm1300130 17 18047111 [A/G] NM_016239 MYO15A Silent exm1300132 17 18047189 [A/G] NM_016239 MYO15A EXON Missense_G2018R exm1300134 17 18047249 [T/C] NM_016239 MYO15A EXON Missense_R2038C exm1300136 17 18047265 [T/C] NM_016239 MYO15A EXON Missense_L2043P exm1300150 17 18049214 [T/C] NM_016239 MYO15A EXON Missense_L2101P exm1300164 17 18051393 [A/G] NM_016239 MYO15A EXON Missense_R2187H exm1300167 17 18051447 [T/C] NM_016239 MYO15A EXON Missense_T2205I exm1300174 17 18051861 [T/C] NM_016239 MYO15A EXON Missense_A2248V exm1300176 17 18052095 [A/G] NM_016239 MYO15A EXON Missense_R2262H exm1300180 17 18052106 [A/G] NM_016239 MYO15A EXON Missense_V2266M exm1877361 17 18052221 [T/C] NM_016239 MYO15A EXON Missense_I2304T exm1300190 17 18052642 [A/G] NM_016239 MYO15A EXON Missense_G2357S exm1300192 17 18052884 [A/G] NM_016239 MYO15A EXON Missense_Y2401C exm1300202 17 18054222 [A/G] NM_016239 MYO15A EXON Missense_A2490T exm1300211 17 18054484 [A/G] NM_016239 MYO15A EXON Missense_V2512M exm2274910 17 18054497 [T/C] NM_016239 MYO15A EXON Missense_A2516V exm1300224 17 18054826 [A/G] NM_016239 MYO15A EXON Missense_R2591Q exm1300236 17 18055493 [G/C] NM_016239 MYO15A EXON Missense_T2654S exm1300238 17 18057167 [A/T] NM_016239 MYO15A EXON Missense_Y2682F exm1300251 17 18058028 [A/G] NM_016239 MYO15A EXON Missense_R2728H exm1300255 17 18058468 [A/G] NM_016239 MYO15A EXON Missense_V2757M exm1300260 17 18058634 [A/G] NM_016239 MYO15A EXON Missense_V2783M exm1300262 17 18058728 [A/G] NM_016239 MYO15A EXON Missense_R2814Q exm1300272 17 18060374 [A/G] NM_016239 MYO15A EXON Missense_R2903Q exm1300281 17 18061071 [T/C] NM_016239 MYO15A EXON Missense_R2942C exm1300289 17 18062613 [A/G] NM_016239 MYO15A EXON Missense_E3061K exm1300290 17 18062622 [G/C] NM_016239 MYO15A EXON Missense_D3064H exm1300304 17 18064680 [T/C] NM_016239 MYO15A EXON Missense_H3146Y exm1300309 17 18064750 [T/C] NM_016239 MYO15A EXON Missense_L3169P exm1300317 17 18066565 [A/G] NM_016239 MYO15A EXON Missense_R3207H exm1300321 17 18067119 [A/G] NM_016239 MYO15A EXON Missense_N3252D exm1877432 17 18074963 [A/G] NM_016239 MYO15A EXON Missense_Q3365R exm1300351 17 18075050 [T/C] NM_016239 MYO15A EXON Missense_A3394V exm1300360 17 18077137 [T/C] NM_016239 MYO15A EXON Missense_R3465W exm1300361 17 18077138 [A/G] NM_016239 MYO15A EXON Missense_R3465Q exm1300363 17 18077147 [A/G] NM_016239 MYO15A EXON Missense_R3468Q exm1877442 17 18077164 [A/G] NM_016239 MYO15A EXON Missense_S3474G exm1300374 17 18082164 [A/G] NM_016239 MYO15A EXON Missense_S3525G exm-IND17-18052547 17 18111823 [I/D] NM_017758 ALKBH5 EXON exm1300414 17 18133277 [A/G] NM_004140 LLGL1 EXON Missense_N35S exm1300438 17 18137141 [A/G] NM_004140 LLGL1 EXON Missense_S148G exm1300450 17 18137328 [A/G] NM_004140 LLGL1 EXON Missense_V185M exm2225845 17 18138154 [A/G] NM_004140 LLGL1 EXON Missense_G303S exm1300477 17 18138296 [A/G] NM_004140 LLGL1 EXON Missense_R350Q exm1300509 17 18140204 [T/C] NM_004140 LLGL1 EXON Missense_A521V exm1300510 17 18140221 [A/G] NM_004140 LLGL1 EXON Missense_A527T exm1300520 17 18140990 [A/G] NM_004140 LLGL1 EXON Missense_A603T exm1300531 17 18141458 [A/G] NM_004140 LLGL1 EXON Missense_R661H exm1300532 17 18141462 [T/G] NM_004140 LLGL1 EXON Missense_Q662H exm1300535 17 18141475 [A/G] NM_004140 LLGL1 EXON Missense_I667V exm1300536 17 18141783 [A/G] NM_004140 LLGL1 EXON Missense_N689S exm1300543 17 18141861 [T/C] NM_004140 LLGL1 EXON Missense_A715V exm1300544 17 18141876 [T/C] NM_004140 LLGL1 EXON Missense_S720L exm1300575 17 18144843 [A/G] NM_004140 LLGL1 EXON Missense_A861T exm1300576 17 18144853 [A/C] NM_004140 LLGL1 EXON Missense_T864K exm1300582 17 18144961 [A/G] NM_004140 LLGL1 EXON Missense_H900R exm1300596 17 18145527 [T/C] NM_004140 LLGL1 EXON Missense_P977L exm1300598 17 18145552 [A/C] NM_004140 LLGL1 EXON Missense_S985R exm1300607 17 18145912 [T/C] NM_004140 LLGL1 EXON Missense_V1029A exm1300610 17 18146103 [A/G] NM_004140 LLGL1 EXON Missense_E1055K exm1300612 17 18146112 [A/G] NM_004140 LLGL1 EXON Missense_A1058T exm2252876 17 18148500 [A/G] NM_001256265,NM_002018,NM_001256264 FLII,FLII,FLII EXON Synonymous_F1199F,Synonymous_F1254F,Synonymous_F1243F exm1300624 17 18148505 [T/C] NM_001256265,NM_002018,NM_001256264 FLII,FLII,FLII EXON Missense_A1198T,Missense_A1253T,Missense_A1242T exm1300625 17 18148508 [A/G] NM_001256265,NM_002018,NM_001256264 FLII,FLII,FLII EXON Missense_H1197Y,Missense_H1252Y,Missense_H1241Y exm1300627 17 18148534 [T/C] NM_001256265,NM_002018,NM_001256264 FLII,FLII,FLII EXON Missense_R1188H,Missense_R1243H,Missense_R1232H exm1300628 17 18148541 [A/G] NM_001256265,NM_002018,NM_001256264 FLII,FLII,FLII EXON Missense_R1186W,Missense_R1241W,Missense_R1230W exm1300631 17 18148549 [T/C] NM_001256265,NM_002018,NM_001256264 FLII,FLII,FLII EXON Missense_R1183Q,Missense_R1238Q,Missense_R1227Q exm1300632 17 18148550 [A/G] NM_001256265,NM_002018,NM_001256264 FLII,FLII,FLII EXON Missense_R1183W,Missense_R1238W,Missense_R1227W exm1300655 17 18149067 [T/C] NM_001256265,NM_002018,NM_001256264 FLII,FLII,FLII EXON Missense_R1110H,Missense_R1165H,Missense_R1154H exm1300659 17 18149100 [T/C] NM_001256265,NM_002018,NM_001256264 FLII,FLII,FLII EXON Missense_Y1099C,Missense_Y1154C,Missense_Y1143C exm1300687 17 18149710 [T/C] NM_001256265,NM_002018,NM_001256264 FLII,FLII,FLII EXON Missense_I985V,Missense_I1040V,Missense_I1029V exm1300690 17 18149766 [A/G] NM_001256265,NM_002018,NM_001256264 FLII,FLII,FLII EXON Missense_M966T,Missense_M1021T,Missense_M1010T exm1300693 17 18149978 [T/C] NM_001256265,NM_002018,NM_001256264 FLII,FLII,FLII EXON Missense_N939S,Missense_N994S,Missense_N983S exm1300695 17 18150086 [T/G] NM_001256265,NM_002018,NM_001256264 FLII,FLII,FLII EXON Missense_K903T,Missense_K958T,Missense_K947T exm1300730 17 18151078 [A/G] NM_001256265,NM_002018,NM_001256264 FLII,FLII,FLII EXON Missense_R739C,Missense_R794C,Missense_R783C exm1300740 17 18151259 [A/G] NM_001256265,NM_002018,NM_001256264 FLII,FLII,FLII EXON Missense_M705T,Missense_M760T,Missense_M749T exm1300744 17 18151886 [A/G] NM_001256265,NM_002018,NM_001256264 FLII,FLII,FLII EXON Missense_P668L,Missense_P723L,Missense_P712L exm1300752 17 18152015 [T/C] NM_001256265,NM_002018,NM_001256264 FLII,FLII,FLII EXON Missense_N625S,Missense_N680S,Missense_N669S exm1300757 17 18152180 [T/G] NM_001256265,NM_002018,NM_001256264 FLII,FLII,FLII EXON Missense_D596A,Missense_D651A,Missense_D640A exm1300762 17 18152475 [A/G] NM_001256265,NM_002018,NM_001256264 FLII,FLII,FLII EXON Missense_P579S,Missense_P634S,Missense_P623S exm1300775 17 18154175 [T/C] NM_001256265,NM_002018,NM_001256264 FLII,FLII,FLII EXON Missense_D530N,Missense_D585N,Missense_D574N exm1300812 17 18155331 [T/C] NM_001256265,NM_002018,NM_001256264 FLII,FLII,FLII EXON Missense_V356M,Missense_V410M,Missense_V399M exm1300819 17 18155405 [T/C] NM_001256265,NM_002018,NM_001256264 FLII,FLII,FLII EXON Missense_R331H,Missense_R385H,Missense_R374H exm1300829 17 18155870 [T/C] NM_001256265,NM_002018,NM_001256264 FLII,FLII,FLII EXON Synonymous_R284R,Synonymous_R338R,Synonymous_R327R exm1300840 17 18156980 [C/G] NM_001256265,NM_002018,NM_001256264 FLII,FLII,FLII EXON Missense_L191V,Missense_L245V,Missense_L234V exm1300841 17 18157004 [A/G] NM_001256265,NM_002018,NM_001256264 FLII,FLII,FLII EXON Missense_R183W,Missense_R237W,Missense_R226W exm1300852 17 18157877 [A/G] NM_001256265,NM_002018,NM_001256264 FLII,FLII,FLII EXON Silent,Missense_T178M,Missense_T167M exm1300866 17 18158571 [T/C] NM_001256265,NM_002018,NM_001256264 FLII,FLII,FLII EXON Missense_V85M,Missense_V85M,Missense_V74M exm1300877 17 18160272 [T/C] NM_001256265,NM_002018,NM_001256264 FLII,FLII,FLII EXON Missense_R42H,Missense_R42H,Missense_R31H exm1300880 17 18161945 [T/G] NM_001256265,NM_002018 FLII,FLII EXON Missense_F20L,Missense_F20L exm1300883 17 18164475 [A/G] NM_001144900,NM_139162,NM_148886 SMCR7,SMCR7,SMCR7 EXON Silent,Silent,Missense_R9K exm1300887 17 18166074 [A/G] NM_001144900,NM_139162,NM_148886 SMCR7,SMCR7,SMCR7 EXON Missense_D14N,Missense_D14N,Missense_D25N exm1300893 17 18166419 [A/G] NM_001144900,NM_139162,NM_148886 SMCR7,SMCR7,SMCR7 EXON Missense_S56N,Missense_S56N,Missense_S67N exm1300896 17 18166489 [C/G] NM_001144900,NM_139162,NM_148886 SMCR7,SMCR7,SMCR7 EXON Missense_H79Q,Missense_H79Q,Missense_H90Q exm1300900 17 18166551 [T/C] NM_001144900,NM_139162,NM_148886 SMCR7,SMCR7,SMCR7 EXON Missense_S100L,Missense_S100L,Missense_S111L exm1300911 17 18167175 [T/C] NM_001144900,NM_139162,NM_148886 SMCR7,SMCR7,SMCR7 EXON Nonsense_R130X,Synonymous_G154G,Synonymous_G165G exm1877624 17 18167286 [A/G] NM_001144900,NM_139162,NM_148886 SMCR7,SMCR7,SMCR7 EXON Missense_G167R,Synonymous_A191A,Synonymous_A202A exm1300933 17 18167397 [T/G] NM_001144900,NM_139162,NM_148886 SMCR7,SMCR7,SMCR7 EXON Missense_A204S,Synonymous_T228T,Synonymous_T239T exm1300934 17 18167400 [A/G] NM_001144900,NM_139162,NM_148886 SMCR7,SMCR7,SMCR7 EXON Missense_A205T,Synonymous_Q229Q,Synonymous_Q240Q exm1300941 17 18167528 [A/G] NM_001144900,NM_139162,NM_148886 SMCR7,SMCR7,SMCR7 EXON Silent,Missense_G272D,Missense_G283D exm1300947 17 18167596 [A/G] NM_001144900,NM_139162,NM_148886 SMCR7,SMCR7,SMCR7 EXON Silent,Missense_E295K,Missense_E306K exm1300951 17 18167681 [A/C] NM_001144900,NM_139162,NM_148886 SMCR7,SMCR7,SMCR7 EXON Silent,Missense_E323A,Missense_E334A exm1300952 17 18167684 [A/G] NM_001144900,NM_139162,NM_148886 SMCR7,SMCR7,SMCR7 EXON Silent,Missense_G324E,Missense_G335E exm1300954 17 18167741 [A/G] NM_001144900,NM_139162,NM_148886 SMCR7,SMCR7,SMCR7 EXON Silent,Missense_R343Q,Missense_R354Q exm1300966 17 18167836 [T/C] NM_001144900,NM_139162,NM_148886 SMCR7,SMCR7,SMCR7 EXON Silent,Missense_R375W,Missense_R386W exm1300967 17 18167837 [A/G] NM_001144900,NM_139162,NM_148886 SMCR7,SMCR7,SMCR7 EXON Silent,Missense_R375Q,Missense_R386Q exm1300970 17 18167881 [A/G] NM_001144900,NM_139162,NM_148886 SMCR7,SMCR7,SMCR7 EXON Silent,Missense_V390M,Missense_V401M exm1300971 17 18167897 [A/C] NM_001144900,NM_139162,NM_148886 SMCR7,SMCR7,SMCR7 EXON Silent,Missense_E395A,Missense_E406A exm1300975 17 18167941 [A/G] NM_001144900,NM_139162,NM_148886 SMCR7,SMCR7,SMCR7 EXON Silent,Missense_G410S,Missense_G421S exm1301012 17 18181258 [T/C] NM_004618 TOP3A EXON Missense_N853S exm1301022 17 18181381 [A/G] NM_004618 TOP3A EXON Missense_T812I exm1301030 17 18181499 [T/C] NM_004618 TOP3A EXON Missense_N773D exm1301034 17 18181546 [A/G] NM_004618 TOP3A EXON Missense_P757L exm1301037 17 18181588 [G/C] NM_004618 TOP3A EXON Missense_T743S exm1301038 17 18181592 [T/C] NM_004618 TOP3A EXON Missense_D742N exm1301040 17 18181601 [T/C] NM_004618 TOP3A EXON Missense_G739R exm1301049 17 18181667 [T/G] NM_004618 TOP3A EXON Missense_K717Q exm2225856 17 18186027 [A/G] NM_004618 TOP3A EXON Missense_T669I exm1301061 17 18186148 [T/C] NM_004618 TOP3A EXON Missense_E629K exm1301067 17 18188582 [A/C] NM_004618 TOP3A EXON Missense_L584R exm1301069 17 18188600 [T/G] NM_004618 TOP3A EXON Missense_E578A exm1301086 17 18193967 [A/G] NM_004618 TOP3A EXON Nonsense_Q501X exm1301087 17 18193972 [T/G] NM_004618 TOP3A EXON Missense_H499P exm1301088 17 18193987 [T/C] NM_004618 TOP3A EXON Missense_Y494C exm1301095 17 18194242 [T/C] NM_004618 TOP3A EXON Missense_A461T exm1301097 17 18194248 [T/C] NM_004618 TOP3A EXON Missense_D459N exm1301106 17 18196027 [A/G] NM_004618 TOP3A EXON Missense_R405C exm1877662 17 18196044 [T/C] NM_004618 TOP3A EXON Missense_R399Q exm1301112 17 18196087 [A/G] NM_004618 TOP3A EXON Missense_P385S exm1301113 17 18196162 [T/G] NM_004618 TOP3A EXON Missense_I360L exm1301115 17 18198068 [T/C] NM_004618 TOP3A EXON Missense_R341K exm1301140 17 18205933 [T/C] NM_004618 TOP3A EXON Missense_D202N exm1877678 17 18206008 [A/G] NM_004618 TOP3A EXON Nonsense_R177X exm1301147 17 18208522 [A/G] NM_004618 TOP3A EXON Nonsense_R135X exm1301180 17 18219425 [T/C] NM_144775 SMCR8 EXON Missense_P108S exm1301196 17 18219872 [T/C] NM_144775 SMCR8 EXON Missense_P257S exm1301207 17 18220101 [A/G] NM_144775 SMCR8 EXON Missense_Q333R exm1877697 17 18220133 [A/G] NM_144775 SMCR8 EXON Missense_M344V exm1301216 17 18220250 [A/G] NM_144775 SMCR8 EXON Missense_V383M exm1301217 17 18220268 [A/G] NM_144775 SMCR8 EXON Missense_I389V exm1301240 17 18220674 [T/C] NM_144775 SMCR8 EXON Missense_P524L exm1301245 17 18220721 [T/G] NM_144775 SMCR8 EXON Missense_A540S exm1301246 17 18220746 [T/C] NM_144775 SMCR8 EXON Missense_P548L exm1301247 17 18220761 [A/G] NM_144775 SMCR8 EXON Missense_G553E exm1301248 17 18220770 [A/G] NM_144775 SMCR8 EXON Missense_R556H exm2225862 17 18220998 [T/G] NM_144775 SMCR8 EXON Missense_V632G exm1301264 17 18221010 [A/G] NM_144775 SMCR8 EXON Missense_N636S exm1301268 17 18221040 [T/G] NM_144775 SMCR8 EXON Missense_G646V exm1301272 17 18221117 [T/G] NM_144775 SMCR8 EXON Missense_S672A exm2252877 17 18221134 [T/C] NM_144775 SMCR8 EXON Synonymous_Y677Y exm1301275 17 18221134 [T/C] NM_144775 SMCR8 EXON Synonymous_Y677Y exm1301313 17 18226010 [A/G] NM_144775 SMCR8 EXON Missense_N814D exm1301315 17 18226056 [A/G] NM_144775 SMCR8 EXON Missense_R829H exm1301319 17 18226187 [A/G] NM_144775 SMCR8 EXON Missense_D873N exm1301342 17 18232693 [T/C] NM_004169,NM_148918 SHMT1,SHMT1 EXON Missense_S394N,Missense_S355N exm1301347 17 18236516 [G/C] NM_004169,NM_148918 SHMT1,SHMT1 EXON Missense_E340Q,Missense_E301Q exm1301362 17 18243453 [T/C] NM_004169,NM_148918 SHMT1,SHMT1 EXON Missense_V240M,Missense_V240M exm1301368 17 18243524 [T/C] NM_004169,NM_148918 SHMT1,SHMT1 EXON Missense_K216R,Missense_K216R exm1301369 17 18243534 [A/G] NM_004169,NM_148918 SHMT1,SHMT1 EXON Missense_R213W,Missense_R213W exm1301375 17 18244057 [A/G] NM_004169,NM_148918 SHMT1,SHMT1 EXON Missense_L197P,Missense_L197P exm1301409 17 18257032 [T/C] NM_004169,NM_148918 SHMT1,SHMT1 EXON Missense_G66S,Missense_G66S exm1301416 17 18284262 [A/G] NM_001145127 EVPLL EXON Missense_S4N exm1301418 17 18284280 [A/G] NM_001145127 EVPLL EXON Missense_R10Q exm1301509 17 18380173 [T/C] NM_001040078 LGALS9C EXON Missense_A2V exm1877753 17 18380190 [A/G] NM_001040078 LGALS9C EXON Missense_A8T exm1301515 17 18380203 [A/G] NM_001040078 LGALS9C EXON Missense_S12N exm1301647 17 18541626 [T/C] NM_001039397 TBC1D28 EXON Synonymous_K129K exm1301651 17 18541699 [A/G] NM_001039397 TBC1D28 EXON Missense_A105V exm1301695 17 18584142 [A/G] NM_001145045 ZNF286B EXON Missense_V13A exm1301730 17 18638214 [T/C] NM_001037330 TRIM16L EXON Missense_P163L exm1301774 17 18647766 [T/C] NM_001267585,NM_001267586,NR_051988 FBXW10,FBXW10,FBXW10 EXON Missense_L70S,Missense_L70S,Silent exm1301792 17 18653151 [T/G] NM_001267585,NM_001267586,NR_051988 FBXW10,FBXW10,FBXW10 EXON Missense_D263Y,Missense_D263Y,Silent exm1301793 17 18653152 [A/G] NM_001267585,NM_001267586,NR_051988 FBXW10,FBXW10,FBXW10 EXON Missense_D263G,Missense_D263G,Silent exm1301851 17 18673331 [T/C] NM_001267585,NM_001267586,NR_051988 FBXW10,FBXW10,FBXW10 EXON Missense_C647R,Silent,Silent exm1301862 17 18675802 [T/C] NM_001267585,NM_001267586,NR_051988 FBXW10,FBXW10,FBXW10 EXON Missense_T695M,Missense_T642M,Silent exm1877901 17 18682202 [A/G] NM_001267585,NM_001267586,NR_051988 FBXW10,FBXW10,FBXW10 EXON Missense_R917K,Missense_R864K,Silent exm2225875 17 18702230 [A/C] NM_016078 TVP23B EXON Missense_L146I exm-rs4924935 17 18753870 [T/C] exm2267989 17 18761109 [A/G] NM_001243942,NM_001243936 PRPSAP2,PRPSAP2 Silent,Silent exm-rs4393623 17 18775900 [A/G] NM_001243942,NM_001243936,NM_001243941,NM_002767,NM_001243940 PRPSAP2,PRPSAP2,PRPSAP2,PRPSAP2,PRPSAP2 EXON Silent,Silent,Silent,Synonymous_T59T,Synonymous_T59T exm2225877 17 18827253 [A/G] NM_001243942,NM_001243936,NM_001243941,NM_002767,NM_001243940 PRPSAP2,PRPSAP2,PRPSAP2,PRPSAP2,PRPSAP2 EXON Missense_I168V,Missense_I214V,Missense_I168V,Missense_I254V,Missense_I254V exm1877940 17 18862466 [A/G] NR_073067,NM_152351,NM_001042450,NM_001270648,NM_001270649 SLC5A10,SLC5A10,SLC5A10,SLC5A10,SLC5A10 EXON Silent,Missense_A68T,Missense_A68T,Missense_A68T,Missense_A68T exm2252880 17 18863953 [T/C] NR_073067,NM_152351,NM_001042450,NM_001270648,NM_001270649 SLC5A10,SLC5A10,SLC5A10,SLC5A10,SLC5A10 EXON Silent,Synonymous_F147F,Synonymous_F147F,Synonymous_F147F,Synonymous_F147F exm1302048 17 18863964 [T/C] NR_073067,NM_152351,NM_001042450,NM_001270648,NM_001270649 SLC5A10,SLC5A10,SLC5A10,SLC5A10,SLC5A10 EXON Silent,Missense_S151L,Missense_S151L,Missense_S151L,Missense_S151L exm1302049 17 18863967 [T/C] NR_073067,NM_152351,NM_001042450,NM_001270648,NM_001270649 SLC5A10,SLC5A10,SLC5A10,SLC5A10,SLC5A10 Silent,Silent,Silent,Silent,Silent exm1302095 17 18874794 [T/C] NR_073067,NM_152351,NM_001042450,NM_001270648,NM_001270649,NM_001039999 SLC5A10,SLC5A10,SLC5A10,SLC5A10,SLC5A10,FAM83G EXON Silent,Silent,Silent,Silent,Silent,Missense_G784R exm1302108 17 18874965 [T/C] NR_073067,NM_152351,NM_001042450,NM_001270648,NM_001270649,NM_001039999 SLC5A10,SLC5A10,SLC5A10,SLC5A10,SLC5A10,FAM83G EXON Silent,Silent,Silent,Silent,Silent,Missense_V727I exm1302113 17 18875007 [T/C] NR_073067,NM_152351,NM_001042450,NM_001270648,NM_001270649,NM_001039999 SLC5A10,SLC5A10,SLC5A10,SLC5A10,SLC5A10,FAM83G EXON Silent,Silent,Silent,Silent,Silent,Missense_G713S exm1302116 17 18875062 [T/C] NR_073067,NM_152351,NM_001042450,NM_001270648,NM_001270649,NM_001039999 SLC5A10,SLC5A10,SLC5A10,SLC5A10,SLC5A10,FAM83G Silent,Silent,Silent,Silent,Silent,Silent exm1302129 17 18880943 [A/G] NR_073067,NM_152351,NM_001042450,NM_001270648,NM_001270649,NM_001039999 SLC5A10,SLC5A10,SLC5A10,SLC5A10,SLC5A10,FAM83G EXON Silent,Silent,Silent,Silent,Silent,Missense_A679V exm1302133 17 18880986 [T/C] NR_073067,NM_152351,NM_001042450,NM_001270648,NM_001270649,NM_001039999 SLC5A10,SLC5A10,SLC5A10,SLC5A10,SLC5A10,FAM83G EXON Silent,Silent,Silent,Silent,Silent,Missense_G665S exm1302139 17 18881091 [A/G] NR_073067,NM_152351,NM_001042450,NM_001270648,NM_001270649,NM_001039999 SLC5A10,SLC5A10,SLC5A10,SLC5A10,SLC5A10,FAM83G EXON Silent,Silent,Silent,Silent,Silent,Missense_R630W exm1302153 17 18881403 [T/C] NR_073067,NM_152351,NM_001042450,NM_001270648,NM_001270649,NM_001039999 SLC5A10,SLC5A10,SLC5A10,SLC5A10,SLC5A10,FAM83G EXON Silent,Silent,Silent,Silent,Silent,Missense_V526I exm1302158 17 18881523 [T/C] NR_073067,NM_152351,NM_001042450,NM_001270648,NM_001270649,NM_001039999 SLC5A10,SLC5A10,SLC5A10,SLC5A10,SLC5A10,FAM83G EXON Silent,Silent,Silent,Silent,Silent,Missense_G486S exm1302175 17 18881846 [T/C] NR_073067,NM_152351,NM_001042450,NM_001270648,NM_001270649,NM_001039999 SLC5A10,SLC5A10,SLC5A10,SLC5A10,SLC5A10,FAM83G EXON Silent,Silent,Silent,Silent,Silent,Missense_G378D exm1302179 17 18881910 [T/C] NR_073067,NM_152351,NM_001042450,NM_001270648,NM_001270649,NM_001039999 SLC5A10,SLC5A10,SLC5A10,SLC5A10,SLC5A10,FAM83G EXON Silent,Silent,Silent,Silent,Silent,Missense_V357I exm1302186 17 18881969 [A/G] NR_073067,NM_152351,NM_001042450,NM_001270648,NM_001270649,NM_001039999 SLC5A10,SLC5A10,SLC5A10,SLC5A10,SLC5A10,FAM83G EXON Silent,Silent,Silent,Silent,Silent,Missense_A337V exm1302187 17 18881970 [T/C] NR_073067,NM_152351,NM_001042450,NM_001270648,NM_001270649,NM_001039999 SLC5A10,SLC5A10,SLC5A10,SLC5A10,SLC5A10,FAM83G EXON Silent,Silent,Silent,Silent,Silent,Missense_A337T exm1877973 17 18882087 [A/G] NR_073067,NM_152351,NM_001042450,NM_001270648,NM_001270649,NM_001039999 SLC5A10,SLC5A10,SLC5A10,SLC5A10,SLC5A10,FAM83G EXON Silent,Silent,Silent,Silent,Silent,Missense_R298W exm1302200 17 18882943 [T/C] NR_073067,NM_152351,NM_001042450,NM_001270648,NM_001270649,NM_001039999 SLC5A10,SLC5A10,SLC5A10,SLC5A10,SLC5A10,FAM83G EXON Silent,Silent,Silent,Silent,Silent,Missense_R245Q exm1877977 17 18891631 [T/C] NR_073067,NM_152351,NM_001042450,NM_001270648,NM_001270649,NM_001039999 SLC5A10,SLC5A10,SLC5A10,SLC5A10,SLC5A10,FAM83G EXON Silent,Silent,Silent,Silent,Silent,Missense_V207M exm1302209 17 18891664 [T/C] NR_073067,NM_152351,NM_001042450,NM_001270648,NM_001270649,NM_001039999 SLC5A10,SLC5A10,SLC5A10,SLC5A10,SLC5A10,FAM83G EXON Silent,Silent,Silent,Silent,Silent,Missense_G196S exm1302212 17 18891706 [T/C] NR_073067,NM_152351,NM_001042450,NM_001270648,NM_001270649,NM_001039999 SLC5A10,SLC5A10,SLC5A10,SLC5A10,SLC5A10,FAM83G EXON Silent,Silent,Silent,Silent,Silent,Missense_M182V exm1302242 17 18916779 [A/G] NR_073067,NM_152351,NM_001042450,NM_001270648,NM_001270649 SLC5A10,SLC5A10,SLC5A10,SLC5A10,SLC5A10 EXON Silent,Missense_G363S,Missense_G347S,Missense_G320S,Silent exm-rs2472708 17 18917237 [A/G] NR_073067,NM_152351,NM_001042450,NM_001270648,NM_001270649 SLC5A10,SLC5A10,SLC5A10,SLC5A10,SLC5A10 Silent,Silent,Silent,Silent,Silent exm1302265 17 18922851 [T/C] NR_073067,NM_152351,NM_001042450,NM_001270648,NM_001270649 SLC5A10,SLC5A10,SLC5A10,SLC5A10,SLC5A10 EXON Silent,Missense_P469S,Missense_P453S,Missense_P426S,Missense_P417S exm1302280 17 18923126 [A/G] NR_073067,NM_152351,NM_001042450,NM_001270648,NM_001270649 SLC5A10,SLC5A10,SLC5A10,SLC5A10,SLC5A10 EXON Silent,Missense_R520Q,Missense_R504Q,Missense_R477Q,Missense_R468Q exm1302286 17 18923180 [T/C] NR_073067,NM_152351,NM_001042450,NM_001270648,NM_001270649 SLC5A10,SLC5A10,SLC5A10,SLC5A10,SLC5A10 EXON Silent,Missense_A538V,Missense_A522V,Missense_A495V,Missense_A486V exm2268037 17 18923818 [A/G] NR_073067,NM_152351,NM_001042450,NM_001270648,NM_001270649 SLC5A10,SLC5A10,SLC5A10,SLC5A10,SLC5A10 EXON Silent,Silent,Silent,Silent,Silent exm1302608 17 19186967 [A/C] NM_014964,NM_001102664,NM_148921 EPN2,EPN2,EPN2 EXON Missense_T179P,Silent,Missense_T179P exm1302613 17 19188962 [T/C] NM_014964,NM_001102664,NM_148921 EPN2,EPN2,EPN2 EXON Missense_R209C,Silent,Silent exm1302629 17 19215437 [A/G] NM_014964,NM_001102664,NM_148921 EPN2,EPN2,EPN2 EXON Missense_K318E,Missense_K33E,Missense_K261E exm1302637 17 19216538 [A/C] NM_014964,NM_001102664,NM_148921 EPN2,EPN2,EPN2 EXON Missense_P365T,Missense_P80T,Missense_P308T exm1302647 17 19232152 [T/G] NM_014964,NM_001102664,NM_148921 EPN2,EPN2,EPN2 EXON Missense_S426A,Missense_S141A,Missense_S369A exm1302649 17 19232159 [T/C] NM_014964,NM_001102664,NM_148921 EPN2,EPN2,EPN2 EXON Missense_A428V,Missense_A143V,Missense_A371V exm1302657 17 19232958 [C/G] NM_014964,NM_001102664,NM_148921 EPN2,EPN2,EPN2 EXON Missense_T470R,Missense_T185R,Missense_T413R exm1302659 17 19235167 [T/C] NM_014964,NM_001102664,NM_148921 EPN2,EPN2,EPN2 EXON Synonymous_A471A,Synonymous_A186A,Synonymous_A414A exm1302673 17 19237418 [A/G] NM_014964,NM_001102664,NM_148921 EPN2,EPN2,EPN2 EXON Missense_M593V,Missense_M308V,Missense_M536V exm1302675 17 19237487 [A/G] NM_014964,NM_001102664,NM_148921 EPN2,EPN2,EPN2 EXON Missense_M616V,Missense_M331V,Missense_M559V exm2272577 17 19239432 [T/C] NM_014964,NM_001102664,NM_148921 EPN2,EPN2,EPN2 EXON Silent,Silent,Silent exm1302683 17 19246679 [T/A] NM_001243475,NM_001243473,NM_015681 B9D1,B9D1,B9D1 EXON Silent,Silent,Missense_T190S exm1302700 17 19250610 [T/A] NM_001243475,NM_001243473,NM_015681 B9D1,B9D1,B9D1 EXON Missense_N101K,Missense_N145K,Missense_S126T exm1302704 17 19251095 [A/G] NM_001243475,NM_001243473,NM_015681 B9D1,B9D1,B9D1 Silent,Silent,Silent exm1302716 17 19261216 [A/G] NM_001243475,NM_001243473,NM_015681 B9D1,B9D1,B9D1 EXON Synonymous_C36C,Synonymous_C80C,Missense_R61W exm1302722 17 19265872 [C/G] NM_001243475,NM_001243473,NM_015681 B9D1,B9D1,B9D1 EXON Silent,Silent,Missense_A4G exm1302724 17 19282210 [T/C] NM_139033,NM_139032,NM_002749,NM_139034 MAPK7,MAPK7,MAPK7,MAPK7 EXON Silent,Silent,Silent,Silent exm1302745 17 19283208 [A/G] NM_139033,NM_139032,NM_002749,NM_139034 MAPK7,MAPK7,MAPK7,MAPK7 EXON Missense_A116T,Silent,Missense_A116T,Missense_A116T exm1302778 17 19284507 [T/C] NM_139033,NM_139032,NM_002749,NM_139034 MAPK7,MAPK7,MAPK7,MAPK7 EXON Missense_R329C,Missense_R190C,Missense_R329C,Missense_R329C exm1302786 17 19284550 [A/G] NM_139033,NM_139032,NM_002749,NM_139034 MAPK7,MAPK7,MAPK7,MAPK7 EXON Missense_R343H,Missense_R204H,Missense_R343H,Missense_R343H exm1302808 17 19285267 [T/C] NM_139033,NM_139032,NM_002749,NM_139034 MAPK7,MAPK7,MAPK7,MAPK7 EXON Missense_P551S,Missense_P412S,Missense_P551S,Missense_P551S exm1302818 17 19285463 [T/C] NM_139033,NM_139032,NM_002749,NM_139034 MAPK7,MAPK7,MAPK7,MAPK7 EXON Missense_P616L,Missense_P477L,Missense_P616L,Missense_P616L exm1302819 17 19285478 [T/C] NM_139033,NM_139032,NM_002749,NM_139034 MAPK7,MAPK7,MAPK7,MAPK7 EXON Missense_A621V,Missense_A482V,Missense_A621V,Missense_A621V exm1302825 17 19285508 [T/C] NM_139033,NM_139032,NM_002749,NM_139034 MAPK7,MAPK7,MAPK7,MAPK7 EXON Missense_P631L,Missense_P492L,Missense_P631L,Missense_P631L exm1302838 17 19285715 [T/C] NM_139033,NM_139032,NM_002749,NM_139034 MAPK7,MAPK7,MAPK7,MAPK7 EXON Missense_P700L,Missense_P561L,Missense_P700L,Missense_P700L exm1302852 17 19286456 [A/C] NM_139033,NM_139032,NM_002749,NM_139034 MAPK7,MAPK7,MAPK7,MAPK7 EXON Missense_N788T,Missense_N649T,Missense_N788T,Missense_N788T exm1302892 17 19290088 [T/C] NM_001198695,NM_002404 MFAP4,MFAP4 EXON Missense_G48R,Missense_G24R exm1302895 17 19290108 [A/G] NM_001198695,NM_002404 MFAP4,MFAP4 EXON Missense_P41L,Missense_P17L exm1302918 17 19315909 [A/G] NM_007148 RNF112 EXON Missense_R65H exm1302925 17 19316037 [T/C] NM_007148 RNF112 EXON Missense_R108W exm1302930 17 19316086 [A/C] NM_007148 RNF112 EXON Missense_P124H exm1302942 17 19316665 [T/C] NM_007148 RNF112 EXON Missense_L221F exm1302945 17 19316911 [A/C] NM_007148 RNF112 EXON Missense_T248P exm1302947 17 19317429 [G/C] NM_007148 RNF112 EXON Missense_L283V exm1302952 17 19317918 [A/G] NM_007148 RNF112 EXON Missense_R318H exm1302957 17 19318389 [A/G] NM_007148 RNF112 EXON Missense_V389I exm1878166 17 19318849 [A/G] NM_007148 RNF112 EXON Missense_D457N exm1302978 17 19319184 [T/C] NM_007148 RNF112 EXON Missense_T531M exm1878198 17 19445761 [A/G] NM_018242 SLC47A1 EXON Missense_G64D exm1303016 17 19452968 [T/C] NM_018242 SLC47A1 EXON Missense_T159M exm1303036 17 19459175 [T/C] NM_018242 SLC47A1 EXON Missense_M269T exm1303042 17 19459308 [T/G] NM_018242 SLC47A1 EXON Missense_G285V exm2225895 17 19459337 [T/C] NM_018242 SLC47A1 EXON Nonsense_Q295X exm1303070 17 19463591 [A/G] NM_018242 SLC47A1 EXON Missense_V338I exm1303071 17 19463760 [A/C] NM_018242 SLC47A1 EXON Missense_L354M exm1303083 17 19470502 [A/G] NM_018242 SLC47A1 EXON Missense_G424R exm1303089 17 19474875 [T/C] NM_018242 SLC47A1 EXON Missense_A465V exm1303093 17 19476126 [A/G] NM_018242 SLC47A1 EXON Missense_V480M exm1303095 17 19476132 [T/C] NM_018242 SLC47A1 EXON Missense_R482W exm1303098 17 19476150 [T/C] NM_018242 SLC47A1 EXON Missense_L488F exm1303106 17 19480751 [A/G] NM_018242 SLC47A1 EXON Missense_D533G exm1303108 17 19480787 [A/G] NM_018242 SLC47A1 EXON Missense_R545Q exm1303109 17 19480808 [A/G] NM_018242 SLC47A1 EXON Missense_G552E exm2267990 17 19488851 [A/G] exm1303122 17 19552403 [A/G] NM_001031806,NM_000382 ALDH3A2,ALDH3A2 EXON Missense_D40G,Missense_D40G exm1303146 17 19559770 [T/C] NM_001031806,NM_000382 ALDH3A2,ALDH3A2 EXON Missense_A188V,Missense_A188V exm1303158 17 19564497 [T/C] NM_001031806,NM_000382 ALDH3A2,ALDH3A2 EXON Missense_R286C,Missense_R286C exm1303162 17 19566652 [T/C] NM_001031806,NM_000382 ALDH3A2,ALDH3A2 EXON Missense_T316I,Missense_T316I exm1303163 17 19566683 [C/G] NM_001031806,NM_000382 ALDH3A2,ALDH3A2 EXON Missense_K326N,Missense_K326N exm1303166 17 19566753 [A/C] NM_001031806,NM_000382 ALDH3A2,ALDH3A2 EXON Missense_N350H,Missense_N350H exm1303179 17 19575096 [T/C] NM_001031806,NM_000382 ALDH3A2,ALDH3A2 EXON Missense_P424S,Missense_P424S exm1878268 17 19575199 [A/G] NM_001031806,NM_000382 ALDH3A2,ALDH3A2 EXON Missense_R458Q,Missense_R458Q exm1303183 17 19575238 [T/C] NM_001031806,NM_000382 ALDH3A2,ALDH3A2 EXON Missense_F471S,Missense_F471S exm1303197 17 19582075 [T/C] NM_001256663,NM_001099646,NM_152908 SLC47A2,SLC47A2,SLC47A2 EXON Missense_R556H,Missense_R542H,Missense_R578H exm1303207 17 19583328 [T/G] NM_001256663,NM_001099646,NM_152908 SLC47A2,SLC47A2,SLC47A2 EXON Missense_Q487K,Missense_Q473K,Missense_Q509K exm1303214 17 19584896 [T/G] NM_001256663,NM_001099646,NM_152908 SLC47A2,SLC47A2,SLC47A2 EXON Missense_P432T,Missense_P418T,Missense_P454T exm1303217 17 19584971 [T/C] NM_001256663,NM_001099646,NM_152908 SLC47A2,SLC47A2,SLC47A2 EXON Missense_G407R,Missense_G393R,Missense_G429R exm2252884 17 19608773 [A/G] NM_001256663,NM_001099646,NM_152908 SLC47A2,SLC47A2,SLC47A2 EXON Synonymous_Y295Y,Synonymous_Y295Y,Synonymous_Y331Y exm1303238 17 19609968 [T/G] NM_001256663,NM_001099646,NM_152908 SLC47A2,SLC47A2,SLC47A2 EXON Missense_F278L,Missense_F278L,Missense_F314L exm1303242 17 19611113 [T/C] NM_001256663,NM_001099646,NM_152908 SLC47A2,SLC47A2,SLC47A2 EXON Missense_V225I,Missense_V225I,Missense_V261I exm1303257 17 19616017 [A/G] NM_001256663,NM_001099646,NM_152908 SLC47A2,SLC47A2,SLC47A2 EXON Missense_P162L,Missense_P162L,Missense_P162L exm1303268 17 19617246 [A/G] NM_001256663,NM_001099646,NM_152908 SLC47A2,SLC47A2,SLC47A2 EXON Missense_L112P,Missense_L112P,Missense_L112P exm1303280 17 19618087 [T/C] NM_001256663,NM_001099646,NM_152908 SLC47A2,SLC47A2,SLC47A2 EXON Missense_G81R,Missense_G81R,Missense_G81R exm1303287 17 19618436 [A/G] NM_001256663,NM_001099646,NM_152908 SLC47A2,SLC47A2,SLC47A2 EXON Missense_A73V,Missense_A73V,Missense_A73V exm1303318 17 19642348 [T/C] NM_001135168,NM_001135167,NM_000691 ALDH3A1,ALDH3A1,ALDH3A1 EXON Missense_V393I,Missense_V393I,Missense_V393I exm1303324 17 19642885 [A/G] NM_001135168,NM_001135167,NM_000691 ALDH3A1,ALDH3A1,ALDH3A1 EXON Missense_A351V,Missense_A351V,Missense_A351V exm1303326 17 19642910 [T/C] NM_001135168,NM_001135167,NM_000691 ALDH3A1,ALDH3A1,ALDH3A1 EXON Missense_V343M,Missense_V343M,Missense_V343M exm1303330 17 19642952 [G/C] NM_001135168,NM_001135167,NM_000691 ALDH3A1,ALDH3A1,ALDH3A1 EXON Missense_P329A,Missense_P329A,Missense_P329A exm1303335 17 19643658 [A/G] NM_001135168,NM_001135167,NM_000691 ALDH3A1,ALDH3A1,ALDH3A1 EXON Missense_R314C,Missense_R314C,Missense_R314C exm1303337 17 19643672 [T/C] NM_001135168,NM_001135167,NM_000691 ALDH3A1,ALDH3A1,ALDH3A1 EXON Missense_G309E,Missense_G309E,Missense_G309E exm1303345 17 19643699 [T/C] NM_001135168,NM_001135167,NM_000691 ALDH3A1,ALDH3A1,ALDH3A1 EXON Missense_G300D,Missense_G300D,Missense_G300D exm1303346 17 19643732 [T/C] NM_001135168,NM_001135167,NM_000691 ALDH3A1,ALDH3A1,ALDH3A1 EXON Missense_R289Q,Missense_R289Q,Missense_R289Q exm1303348 17 19643753 [T/C] NM_001135168,NM_001135167,NM_000691 ALDH3A1,ALDH3A1,ALDH3A1 EXON Missense_Y282C,Missense_Y282C,Missense_Y282C exm1303352 17 19643789 [T/G] NM_001135168,NM_001135167,NM_000691 ALDH3A1,ALDH3A1,ALDH3A1 EXON Missense_E270A,Missense_E270A,Missense_E270A exm1303354 17 19644456 [T/C] NM_001135168,NM_001135167,NM_000691 ALDH3A1,ALDH3A1,ALDH3A1 EXON Missense_D253N,Missense_D253N,Missense_D253N exm1303358 17 19644516 [A/C] NM_001135168,NM_001135167,NM_000691 ALDH3A1,ALDH3A1,ALDH3A1 EXON Missense_A233S,Missense_A233S,Missense_A233S exm1303368 17 19645458 [T/C] NM_001135168,NM_001135167,NM_000691 ALDH3A1,ALDH3A1,ALDH3A1 EXON Missense_H183R,Missense_H183R,Missense_H183R exm1303378 17 19645938 [A/C] NM_001135168,NM_001135167,NM_000691 ALDH3A1,ALDH3A1,ALDH3A1 EXON Missense_S134A,Missense_S134A,Missense_S134A exm1303380 17 19645944 [G/C] NM_001135168,NM_001135167,NM_000691 ALDH3A1,ALDH3A1,ALDH3A1 Silent,Silent,Silent exm1303389 17 19646611 [T/C] NM_001135168,NM_001135167,NM_000691 ALDH3A1,ALDH3A1,ALDH3A1 EXON Missense_V110I,Missense_V110I,Missense_V110I exm1303396 17 19646703 [A/G] NM_001135168,NM_001135167,NM_000691 ALDH3A1,ALDH3A1,ALDH3A1 EXON Missense_P79L,Missense_P79L,Missense_P79L exm1303404 17 19648316 [C/G] NM_001135168,NM_001135167,NM_000691 ALDH3A1,ALDH3A1,ALDH3A1 EXON Missense_E43Q,Missense_E43Q,Missense_E43Q exm1303408 17 19648349 [T/C] NM_001135168,NM_001135167,NM_000691 ALDH3A1,ALDH3A1,ALDH3A1 EXON Missense_A32T,Missense_A32T,Missense_A32T exm1303410 17 19648415 [G/C] NM_001135168,NM_001135167,NM_000691 ALDH3A1,ALDH3A1,ALDH3A1 EXON Missense_R10G,Missense_R10G,Missense_R10G exm1303411 17 19648426 [T/C] NM_001135168,NM_001135167,NM_000691 ALDH3A1,ALDH3A1,ALDH3A1 EXON Missense_E6G,Missense_E6G,Missense_E6G exm2267991 17 19664318 [A/G] exm1303423 17 19683789 [T/G] NM_014683,NM_001142610 ULK2,ULK2 EXON Missense_E971A,Missense_E971A exm1303428 17 19683921 [T/C] NM_014683,NM_001142610 ULK2,ULK2 EXON Missense_R927Q,Missense_R927Q exm1303431 17 19684338 [T/C] NM_014683,NM_001142610 ULK2,ULK2 EXON Missense_K907E,Missense_K907E exm1303435 17 19684395 [A/G] NM_014683,NM_001142610 ULK2,ULK2 EXON Missense_Y888H,Missense_Y888H exm1303436 17 19684401 [T/C] NM_014683,NM_001142610 ULK2,ULK2 EXON Missense_V886M,Missense_V886M exm1303438 17 19684415 [T/C] NM_014683,NM_001142610 ULK2,ULK2 EXON Missense_R881Q,Missense_R881Q exm1303446 17 19685380 [A/G] NM_014683,NM_001142610 ULK2,ULK2 EXON Missense_R821W,Missense_R821W exm1303458 17 19687165 [A/C] NM_014683,NM_001142610 ULK2,ULK2 EXON Missense_V769L,Missense_V769L exm1303460 17 19687216 [T/C] NM_014683,NM_001142610 ULK2,ULK2 EXON Missense_G752R,Missense_G752R exm1303490 17 19700933 [T/C] NM_014683,NM_001142610 ULK2,ULK2 EXON Missense_A529T,Missense_A529T exm1878416 17 19700934 [A/G] NM_014683,NM_001142610 ULK2,ULK2 EXON Synonymous_S528S,Synonymous_S528S exm1303493 17 19702831 [T/G] NM_014683,NM_001142610 ULK2,ULK2 EXON Missense_D500A,Missense_D500A exm1878419 17 19702852 [T/C] NM_014683,NM_001142610 ULK2,ULK2 EXON Missense_C493Y,Missense_C493Y exm1303501 17 19705188 [T/C] NM_014683,NM_001142610 ULK2,ULK2 EXON Missense_R448Q,Missense_R448Q exm1303513 17 19713740 [T/C] NM_014683,NM_001142610 ULK2,ULK2 EXON Missense_V370M,Missense_V370M exm1303515 17 19720168 [C/G] NM_014683,NM_001142610 ULK2,ULK2 EXON Missense_N330K,Missense_N330K exm1303516 17 19720188 [C/G] NM_014683,NM_001142610 ULK2,ULK2 EXON Missense_P324A,Missense_P324A exm1303517 17 19720227 [A/G] NM_014683,NM_001142610 ULK2,ULK2 EXON Missense_P311S,Missense_P311S exm1303524 17 19729496 [T/G] NM_014683,NM_001142610 ULK2,ULK2 EXON Missense_A264E,Missense_A264E exm1303528 17 19741877 [A/G] NM_014683,NM_001142610 ULK2,ULK2 EXON Missense_P242S,Missense_P242S exm1303568 17 19812541 [T/C] NM_007202 AKAP10 EXON Missense_I646V exm1303576 17 19823414 [T/C] NM_007202 AKAP10 EXON Missense_R590K exm1303580 17 19827781 [A/G] NM_007202 AKAP10 EXON Missense_A564V exm1303582 17 19827827 [T/C] NM_007202 AKAP10 EXON Missense_S549G exm1303591 17 19835191 [A/G] NM_007202 AKAP10 EXON Missense_S523L exm1303622 17 19861458 [T/C] NM_007202 AKAP10 EXON Missense_R249H exm1303629 17 19861599 [G/C] NM_007202 AKAP10 EXON Missense_S202C exm1303631 17 19861704 [A/G] NM_007202 AKAP10 EXON Missense_S167L exm1303635 17 19861804 [T/C] NM_007202 AKAP10 EXON Missense_I134V exm1303643 17 19871732 [A/G] NM_007202 AKAP10 EXON Missense_I44T exm1303644 17 19871740 [C/G] NM_007202 AKAP10 EXON Synonymous_V41V exm2252888 17 19871740 [C/G] NM_007202 AKAP10 EXON Synonymous_V41V exm1303659 17 20000098 [T/C] NM_001243439,NM_152904,NM_001033553 SPECC1,SPECC1,SPECC1 EXON Missense_S45F,Missense_S45F,Missense_S45F exm1303670 17 20013828 [T/C] NM_001243439,NM_152904,NM_001033553 SPECC1,SPECC1,SPECC1 EXON Missense_A79V,Missense_A79V,Missense_A79V exm1303672 17 20013858 [A/G] NM_001243439,NM_152904,NM_001033553 SPECC1,SPECC1,SPECC1 EXON Missense_R89H,Missense_R89H,Missense_R89H exm1303677 17 20107657 [A/T] NM_001243439,NM_152904,NM_001033553,NM_001033554,NM_001243438,NM_001033555 SPECC1,SPECC1,SPECC1,SPECC1,SPECC1,SPECC1 EXON Missense_T99S,Missense_T99S,Missense_T99S,Missense_T18S,Missense_T18S,Missense_T18S exm1303680 17 20107773 [T/C] NM_001243439,NM_152904,NM_001033553,NM_001033554,NM_001243438,NM_001033555 SPECC1,SPECC1,SPECC1,SPECC1,SPECC1,SPECC1 EXON Synonymous_S137S,Synonymous_S137S,Synonymous_S137S,Synonymous_S56S,Synonymous_S56S,Synonymous_S56S exm2252889 17 20107773 [T/C] NM_001243439,NM_152904,NM_001033553,NM_001033554,NM_001243438,NM_001033555 SPECC1,SPECC1,SPECC1,SPECC1,SPECC1,SPECC1 EXON Synonymous_S137S,Synonymous_S137S,Synonymous_S137S,Synonymous_S56S,Synonymous_S56S,Synonymous_S56S exm1303690 17 20108027 [T/C] NM_001243439,NM_152904,NM_001033553,NM_001033554,NM_001243438,NM_001033555 SPECC1,SPECC1,SPECC1,SPECC1,SPECC1,SPECC1 EXON Missense_T222M,Missense_T222M,Missense_T222M,Missense_T141M,Missense_T141M,Missense_T141M exm1303704 17 20108158 [A/G] NM_001243439,NM_152904,NM_001033553,NM_001033554,NM_001243438,NM_001033555 SPECC1,SPECC1,SPECC1,SPECC1,SPECC1,SPECC1 EXON Missense_A266T,Missense_A266T,Missense_A266T,Missense_A185T,Missense_A185T,Missense_A185T exm1303705 17 20108184 [G/C] NM_001243439,NM_152904,NM_001033553,NM_001033554,NM_001243438,NM_001033555 SPECC1,SPECC1,SPECC1,SPECC1,SPECC1,SPECC1 EXON Missense_S274R,Missense_S274R,Missense_S274R,Missense_S193R,Missense_S193R,Missense_S193R exm1303709 17 20108239 [T/A] NM_001243439,NM_152904,NM_001033553,NM_001033554,NM_001243438,NM_001033555 SPECC1,SPECC1,SPECC1,SPECC1,SPECC1,SPECC1 EXON Missense_M293L,Missense_M293L,Missense_M293L,Missense_M212L,Missense_M212L,Missense_M212L exm1878519 17 20108423 [A/T] NM_001243439,NM_152904,NM_001033553,NM_001033554,NM_001243438,NM_001033555 SPECC1,SPECC1,SPECC1,SPECC1,SPECC1,SPECC1 EXON Missense_K354M,Missense_K354M,Missense_K354M,Missense_K273M,Missense_K273M,Missense_K273M exm1303729 17 20108885 [T/C] NM_001243439,NM_152904,NM_001033553,NM_001033554,NM_001243438,NM_001033555 SPECC1,SPECC1,SPECC1,SPECC1,SPECC1,SPECC1 EXON Missense_M508T,Missense_M508T,Missense_M508T,Missense_M427T,Missense_M427T,Missense_M427T exm1303742 17 20109158 [A/G] NM_001243439,NM_152904,NM_001033553,NM_001033554,NM_001243438,NM_001033555 SPECC1,SPECC1,SPECC1,SPECC1,SPECC1,SPECC1 EXON Missense_N599S,Missense_N599S,Missense_N599S,Missense_N518S,Missense_N518S,Missense_N518S exm1303748 17 20130771 [A/G] NM_001243439,NM_152904,NM_001033553,NM_001033554,NM_001243438,NM_001033555 SPECC1,SPECC1,SPECC1,SPECC1,SPECC1,SPECC1 EXON Missense_A637T,Missense_A637T,Missense_A637T,Missense_A556T,Missense_A556T,Missense_A556T exm1303758 17 20130890 [A/G] NM_001243439,NM_152904,NM_001033553,NM_001033554,NM_001243438,NM_001033555 SPECC1,SPECC1,SPECC1,SPECC1,SPECC1,SPECC1 EXON Synonymous_R676R,Synonymous_R676R,Synonymous_R676R,Synonymous_R595R,Synonymous_R595R,Synonymous_R595R exm2252890 17 20130890 [A/G] NM_001243439,NM_152904,NM_001033553,NM_001033554,NM_001243438,NM_001033555 SPECC1,SPECC1,SPECC1,SPECC1,SPECC1,SPECC1 EXON Synonymous_R676R,Synonymous_R676R,Synonymous_R676R,Synonymous_R595R,Synonymous_R595R,Synonymous_R595R exm1303760 17 20135075 [T/G] NM_001243439,NM_152904,NM_001033553,NM_001033554,NM_001243438,NM_001033555 SPECC1,SPECC1,SPECC1,SPECC1,SPECC1,SPECC1 EXON Missense_S692R,Missense_S692R,Missense_S692R,Missense_S611R,Missense_S611R,Missense_S611R exm1303765 17 20135522 [A/G] NM_001243439,NM_152904,NM_001033553,NM_001033554,NM_001243438,NM_001033555 SPECC1,SPECC1,SPECC1,SPECC1,SPECC1,SPECC1 EXON Missense_E719K,Missense_E719K,Missense_E719K,Missense_E638K,Missense_E638K,Missense_E638K exm1303766 17 20135544 [T/C] NM_001243439,NM_152904,NM_001033553,NM_001033554,NM_001243438,NM_001033555 SPECC1,SPECC1,SPECC1,SPECC1,SPECC1,SPECC1 EXON Missense_A726V,Missense_A726V,Missense_A726V,Missense_A645V,Missense_A645V,Missense_A645V exm1303767 17 20135555 [A/G] NM_001243439,NM_152904,NM_001033553,NM_001033554,NM_001243438,NM_001033555 SPECC1,SPECC1,SPECC1,SPECC1,SPECC1,SPECC1 EXON Missense_T730A,Missense_T730A,Missense_T730A,Missense_T649A,Missense_T649A,Missense_T649A exm1303771 17 20135651 [T/C] NM_001243439,NM_152904,NM_001033553,NM_001033554,NM_001243438,NM_001033555 SPECC1,SPECC1,SPECC1,SPECC1,SPECC1,SPECC1 EXON Missense_R762W,Missense_R762W,Missense_R762W,Missense_R681W,Missense_R681W,Missense_R681W exm1303772 17 20135672 [A/G] NM_001243439,NM_152904,NM_001033553,NM_001033554,NM_001243438,NM_001033555 SPECC1,SPECC1,SPECC1,SPECC1,SPECC1,SPECC1 EXON Missense_D769N,Missense_D769N,Missense_D769N,Missense_D688N,Missense_D688N,Missense_D688N exm1303775 17 20135693 [A/G] NM_001243439,NM_152904,NM_001033553,NM_001033554,NM_001243438,NM_001033555 SPECC1,SPECC1,SPECC1,SPECC1,SPECC1,SPECC1 EXON Missense_V776M,Missense_V776M,Missense_V776M,Missense_V695M,Missense_V695M,Missense_V695M exm1878539 17 20149291 [T/C] NM_001243439,NM_001033553,NM_001033555 SPECC1,SPECC1,SPECC1 EXON Missense_P802S,Missense_P802S,Missense_P721S exm1303785 17 20150533 [T/G] NM_001243439,NM_001033553,NM_001033555 SPECC1,SPECC1,SPECC1 EXON Synonymous_G833G,Synonymous_G833G,Synonymous_G752G exm1303797 17 20156860 [A/G] NM_001243439,NM_001033553,NM_001033555 SPECC1,SPECC1,SPECC1 EXON Missense_V881M,Missense_V881M,Missense_V800M exm1303811 17 20163576 [A/G] NM_001243439,NM_001033553,NM_001033555 SPECC1,SPECC1,SPECC1 EXON Missense_K970R,Missense_K970R,Missense_K889R exm1303814 17 20200344 [A/G] NM_001243439,NM_001033553,NM_001033555 SPECC1,SPECC1,SPECC1 EXON Missense_Y1004C,Missense_Y1004C,Missense_Y923C exm2252891 17 20209365 [A/G] NM_001243439,NM_001033553,NM_001033555 SPECC1,SPECC1,SPECC1 EXON Synonymous_A1029A,Synonymous_A1029A,Synonymous_A948A exm2272578 17 20209474 [T/C] NM_001243439,NM_001033553,NM_001033555 SPECC1,SPECC1,SPECC1 Silent,Silent,Silent exm1303818 17 20217316 [T/C] NM_001243439,NM_001033553,NM_001033555 SPECC1,SPECC1,SPECC1 EXON Missense_R1049W,Missense_R1049W,Missense_R968W exm2272579 17 20688829 [T/C] exm-rs3930821 17 20697797 [A/C] exm1303914 17 20768763 [T/C] NM_001004306 CCDC144NL EXON Missense_K211E exm1303918 17 20768805 [T/C] NM_001004306 CCDC144NL EXON Missense_E197K exm1303978 17 20799166 [T/G] NM_001004306 CCDC144NL EXON Missense_N56K exm1878611 17 20799246 [G/C] NM_001004306 CCDC144NL EXON Missense_G30R exm1303991 17 20799263 [T/C] NM_001004306 CCDC144NL EXON Missense_R24K exm-rs11655512 17 20851735 [A/G] exm2272499 17 20919504 [T/C] NM_015276 USP22 Silent exm1304044 17 20931867 [A/G] NM_015276 USP22 EXON Missense_R98W exm1304066 17 21075425 [T/C] NM_015510 DHRS7B EXON Missense_R39W exm1304068 17 21075452 [T/G] NM_015510 DHRS7B EXON Missense_A48S exm1304072 17 21081599 [A/C] NM_015510 DHRS7B EXON Missense_N85H exm1304075 17 21081636 [T/C] NM_015510 DHRS7B EXON Missense_T97I exm1304081 17 21087067 [A/C] NM_015510 DHRS7B EXON Missense_D157A exm1304082 17 21087072 [G/C] NM_015510 DHRS7B EXON Missense_D159H exm1304102 17 21092156 [T/C] NM_015510 DHRS7B EXON Missense_A251V exm2225923 17 21094350 [A/C] NM_015510 DHRS7B EXON Missense_I288L exm1878676 17 21094425 [A/G] NM_015510 DHRS7B EXON Missense_A313T exm1304114 17 21101659 [A/G] NM_003876,NR_024547 TMEM11,TMEM11 EXON Missense_I186T,Silent exm1304119 17 21101885 [T/C] NM_003876,NR_024547 TMEM11,TMEM11 EXON Missense_A111T,Silent exm1304133 17 21102152 [A/C] NM_003876,NR_024547 TMEM11,TMEM11 EXON Missense_V22L,Silent exm2267992 17 21144074 [A/G] NM_152914 C17orf103 EXON Silent exm1304171 17 21202235 [A/C] NM_145109,NM_002756 MAP2K3,MAP2K3 EXON Missense_D54E,Missense_D25E exm1304185 17 21203961 [A/G] NM_145109,NM_002756 MAP2K3,MAP2K3 EXON Missense_M90I,Missense_M61I exm1304209 17 21205509 [T/C] NM_145109,NM_002756 MAP2K3,MAP2K3 EXON Missense_R152W,Missense_R123W exm1304211 17 21205561 [T/C] NM_145109,NM_002756 MAP2K3,MAP2K3 EXON Missense_I169T,Missense_I140T exm1304222 17 21207792 [T/A] NM_145109,NM_002756 MAP2K3,MAP2K3 EXON Missense_D208V,Missense_D179V exm1304226 17 21207834 [T/C] NM_145109,NM_002756 MAP2K3,MAP2K3 EXON Missense_T222M,Missense_T193M exm1304241 17 21208397 [T/G] NM_145109,NM_002756 MAP2K3,MAP2K3 EXON Missense_G244V,Missense_G215V exm1304244 17 21208417 [A/G] NM_145109,NM_002756 MAP2K3,MAP2K3 EXON Missense_V251I,Missense_V222I exm1304266 17 21216820 [A/G] NM_145109,NM_002756 MAP2K3,MAP2K3 EXON Missense_A311T,Missense_A282T exm2274912 17 21217491 [T/G] NM_145109,NM_002756 MAP2K3,MAP2K3 EXON Missense_K331N,Missense_K302N exm1304278 17 21217508 [T/C] NM_145109,NM_002756 MAP2K3,MAP2K3 EXON Missense_A337V,Missense_A308V exm-rs4640244 17 21284223 [A/G] NM_021012 KCNJ12 Silent exm1304297 17 21318671 [A/G] NM_021012,NM_001194958 KCNJ12,KCNJ18 EXON Missense_R6Q,Missense_R6Q exm1878743 17 21318748 [C/G] NM_021012,NM_001194958 KCNJ12,KCNJ18 EXON Missense_G32R,Missense_G32R exm1304309 17 21318753 [C/G] NM_021012,NM_001194958 KCNJ12,KCNJ18 EXON Missense_N33K,Missense_N33K exm1304310 17 21318760 [T/G] NM_021012,NM_001194958 KCNJ12,KCNJ18 EXON Missense_V36L,Missense_V36L exm1304317 17 21318787 [T/C] NM_021012,NM_001194958 KCNJ12,KCNJ18 EXON Missense_R45C,Missense_R45C exm1304323 17 21318826 [A/G] NM_021012,NM_001194958 KCNJ12,KCNJ18 EXON Missense_A58T,Missense_A58T exm1304347 17 21318995 [T/C] NM_021012,NM_001194958 KCNJ12,KCNJ18 EXON Missense_P114L,Missense_P114L exm1878754 17 21319222 [A/C] NM_021012,NM_001194958 KCNJ12,KCNJ18 EXON Synonymous_R190R,Synonymous_R190R exm1304389 17 21319342 [A/G] NM_021012,NM_001194958 KCNJ12,KCNJ18 EXON Missense_A230T,Missense_A230T exm1304396 17 21319388 [T/C] NM_021012,NM_001194958 KCNJ12,KCNJ18 EXON Missense_P245L,Missense_P245L exm1304402 17 21319408 [A/G] NM_021012,NM_001194958 KCNJ12,KCNJ18 EXON Missense_D252N,Missense_D252N exm1878761 17 21319451 [T/C] NM_021012,NM_001194958 KCNJ12,KCNJ18 EXON Missense_S266L,Missense_S266L exm1304420 17 21319508 [A/G] NM_021012,NM_001194958 KCNJ12,KCNJ18 EXON Missense_R285Q,Missense_R285Q exm1304447 17 21319720 [T/C] NM_021012,NM_001194958 KCNJ12,KCNJ18 EXON Missense_R356C,Missense_R356C exm1304448 17 21319721 [A/G] NM_021012,NM_001194958 KCNJ12,KCNJ18 EXON Missense_R356H,Missense_R356H exm1304458 17 21319792 [A/G] NM_021012,NM_001194958 KCNJ12,KCNJ18 EXON Missense_E380K,Missense_E380K exm1304466 17 21319849 [T/C] NM_021012,NM_001194958 KCNJ12,KCNJ18 EXON Nonsense_R399X,Nonsense_R399X exm1304469 17 21319868 [T/G] NM_021012,NM_001194958 KCNJ12,KCNJ18 EXON Missense_S405I,Missense_S405I exm1304476 17 21319909 [A/G] NM_021012,NM_001194958 KCNJ12,KCNJ18 EXON Missense_G419S,Missense_G419S exm1304477 17 21319912 [A/G] NM_021012,NM_001194958 KCNJ12,KCNJ18 EXON Missense_G420R,Missense_G420R exm1304494 17 21454360 [A/C] NM_001113434 C17orf51 EXON Missense_L109R exm2264640 17 21503147 [A/C] exm2272500 17 21717727 [T/G] exm2267993 17 22002556 [A/G] exm2252905 17 25268142 [T/G] exm-rs4795519 17 25541278 [A/C] exm2272581 17 25594990 [T/C] exm1304524 17 25628820 [T/C] NM_134265,NM_015626 WSB1,WSB1 EXON Silent,Missense_L16S exm1304535 17 25630394 [G/C] NM_134265,NM_015626 WSB1,WSB1 EXON Silent,Missense_L71V exm1304539 17 25630473 [A/G] NM_134265,NM_015626 WSB1,WSB1 EXON Silent,Missense_N97S exm1304545 17 25630629 [A/G] NM_134265,NM_015626 WSB1,WSB1 EXON Silent,Missense_N149S exm1304547 17 25630635 [A/G] NM_134265,NM_015626 WSB1,WSB1 EXON Silent,Missense_R151H exm1304558 17 25636162 [T/C] NM_134265,NM_015626 WSB1,WSB1 EXON Missense_R104W,Missense_R250W exm1304562 17 25636274 [A/G] NM_134265,NM_015626 WSB1,WSB1 EXON Missense_N141S,Missense_N287S exm1304568 17 25637187 [A/C] NM_134265,NM_015626 WSB1,WSB1 EXON Missense_L183I,Missense_L329I exm1304573 17 25638594 [A/G] NM_134265,NM_015626 WSB1,WSB1 EXON Missense_N207S,Missense_N353S exm1304580 17 25639357 [C/G] NM_134265,NM_015626 WSB1,WSB1 EXON Missense_P264A,Missense_P410A exm2272502 17 25787234 [T/C] exm1304624 17 25909701 [A/C] NM_014238 KSR1 EXON Missense_S47R exm1304625 17 25909714 [T/C] NM_014238 KSR1 EXON Missense_A51V exm2252909 17 25909715 [A/G] NM_014238 KSR1 EXON Synonymous_A51A exm1304628 17 25909816 [T/C] NM_014238 KSR1 EXON Missense_A85V exm1304630 17 25909824 [T/C] NM_014238 KSR1 EXON Missense_P88S exm1304635 17 25909917 [A/G] NM_014238 KSR1 EXON Missense_A119T exm1304654 17 25919448 [T/C] NM_014238 KSR1 EXON Synonymous_L261L exm1304672 17 25931718 [C/G] NM_014238 KSR1 EXON Missense_Q411H exm1304679 17 25932530 [T/C] NM_014238 KSR1 EXON Missense_S447F exm1304688 17 25932688 [A/G] NM_014238 KSR1 EXON Missense_A500T exm1304699 17 25936279 [A/G] NM_014238 KSR1 EXON Missense_V602I exm1304711 17 25944406 [A/G] NM_014238 KSR1 EXON Missense_K745R exm1304719 17 25958304 [A/G] NR_024043,NM_009587,NM_002308 LGALS9,LGALS9,LGALS9 EXON Silent,Missense_G5S,Missense_G5S exm1304734 17 25969276 [A/G] NR_024043,NM_009587,NM_002308 LGALS9,LGALS9,LGALS9 EXON Silent,Missense_G116R,Missense_G116R exm1304765 17 25974295 [A/G] NR_024043,NM_009587,NM_002308 LGALS9,LGALS9,LGALS9 Silent,Silent,Silent exm1304771 17 25974373 [A/G] NR_024043,NM_009587,NM_002308 LGALS9,LGALS9,LGALS9 EXON Silent,Missense_R279H,Missense_R247H exm1304776 17 25974441 [T/C] NR_024043,NM_009587,NM_002308 LGALS9,LGALS9,LGALS9 EXON Silent,Missense_R302C,Missense_R270C exm1304777 17 25974442 [A/G] NR_024043,NM_009587,NM_002308 LGALS9,LGALS9,LGALS9 EXON Silent,Missense_R302H,Missense_R270H exm2252911 17 26051702 [T/G] exm1304810 17 26086005 [A/G] NM_000625 NOS2 EXON Missense_R1086C exm1304823 17 26087190 [A/G] NM_000625 NOS2 EXON Missense_R1009C exm1304828 17 26087705 [T/C] NM_000625 NOS2 EXON Missense_G985D exm1304833 17 26087763 [T/C] NM_000625 NOS2 EXON Missense_G966S exm1304847 17 26089956 [A/G] NM_000625 NOS2 EXON Missense_R890W exm1304850 17 26091051 [T/C] NM_000625 NOS2 EXON Missense_A850T exm1304863 17 26092740 [T/C] NM_000625 NOS2 EXON Missense_R750H exm2225960 17 26093543 [T/C] NM_000625 NOS2 EXON Missense_T747A exm1304872 17 26096073 [A/G] NM_000625 NOS2 EXON Missense_P655L exm1304879 17 26096597 [A/G] NM_000625 NOS2 EXON Missense_S608L exm1304884 17 26099363 [A/C] NM_000625 NOS2 EXON Missense_A559S exm1304889 17 26100206 [T/G] NM_000625 NOS2 EXON Missense_P514T exm1304896 17 26101309 [T/C] NM_000625 NOS2 EXON Missense_V484I exm1304901 17 26101404 [T/C] NM_000625 NOS2 EXON Missense_R452Q exm-rs4795067 17 26106675 [A/G] NM_000625 NOS2 Silent exm1304925 17 26107857 [A/G] NM_000625 NOS2 EXON Missense_R314C exm1304930 17 26107904 [T/C] NM_000625 NOS2 EXON Missense_K298R exm1879343 17 26108112 [A/T] NM_000625 NOS2 EXON Missense_M272L exm1304940 17 26109068 [T/C] NM_000625 NOS2 EXON Missense_R232H exm1304943 17 26109082 [G/C] NM_000625 NOS2 EXON Missense_I227M exm1304944 17 26109102 [A/G] NM_000625 NOS2 EXON Missense_R221W exm1304945 17 26109117 [T/C] NM_000625 NOS2 EXON Missense_S216G exm1304952 17 26110055 [A/G] NM_000625 NOS2 EXON Missense_T182M exm1304957 17 26114800 [T/C] NM_000625 NOS2 EXON Missense_S124N exm1304971 17 26116637 [A/G] NM_000625 NOS2 EXON Missense_T63M exm1304987 17 26209665 [T/G] NM_001076680 LYRM9 EXON Missense_Y19S exm1305014 17 26490610 [A/G] NM_016231 NLK EXON Missense_I265V exm1305018 17 26495583 [A/G] NM_016231 NLK EXON Missense_R316H exm2252913 17 26519204 [T/C] NM_016231 NLK EXON Synonymous_I498I exm1305032 17 26519204 [T/C] NM_016231 NLK EXON Synonymous_I498I exm2252914 17 26592946 [T/C] exm1879399 17 26646266 [A/G] NM_014573 TMEM97 EXON Missense_M1V exm1305073 17 26653574 [A/G] NM_014573 TMEM97 EXON Missense_I96V exm1305078 17 26653701 [A/G] NM_014573 TMEM97 EXON Missense_H138R exm1305088 17 26656239 [T/G] NM_001267775,NM_001267776,NM_001267774,NM_001267778,NM_174887,NM_001267777 IFT20,IFT20,IFT20,IFT20,IFT20,IFT20 EXON Missense_L93I,Missense_L93I,Missense_L119I,Silent,Missense_T132N,Missense_L93I exm1305094 17 26656299 [T/C] NM_001267775,NM_001267776,NM_001267774,NM_001267778,NM_174887,NM_001267777 IFT20,IFT20,IFT20,IFT20,IFT20,IFT20 EXON Missense_I73V,Missense_I73V,Missense_I99V,Silent,Missense_H112R,Missense_I73V exm1305097 17 26657491 [T/G] NM_001267775,NM_001267776,NM_001267774,NM_001267778,NM_174887,NM_001267777 IFT20,IFT20,IFT20,IFT20,IFT20,IFT20 EXON Missense_E64A,Missense_E64A,Missense_E90A,Missense_E64A,Missense_E64A,Missense_E64A exm1305102 17 26666588 [A/C] NM_021137 TNFAIP1 EXON Missense_K14T exm1305105 17 26666692 [T/C] NM_021137 TNFAIP1 EXON Missense_H49Y exm1305137 17 26676141 [A/G] NM_015584 POLDIP2 EXON Missense_T320M exm1305138 17 26676159 [T/C] NM_015584 POLDIP2 EXON Missense_R314H exm1305139 17 26676165 [T/C] NM_015584 POLDIP2 EXON Missense_S312N exm1305140 17 26676183 [T/C] NM_015584 POLDIP2 EXON Missense_Q306R exm1305146 17 26680014 [G/C] NM_015584 POLDIP2 EXON Missense_S182C exm1305152 17 26680784 [T/C] NM_015584 POLDIP2 EXON Missense_R125K exm1305158 17 26682854 [G/C] NM_015584 POLDIP2 EXON Missense_C70S exm1305176 17 26684737 [T/C] NM_152464 TMEM199 EXON Missense_L15S exm1305189 17 26685983 [T/C] NM_152464 TMEM199 EXON Missense_Y86H exm1305191 17 26686356 [T/C] NM_152464 TMEM199 EXON Missense_R102W exm1305196 17 26686416 [A/G] NM_152464 TMEM199 EXON Missense_V122I exm1305202 17 26687811 [A/G] NM_152464 TMEM199 EXON Missense_V158I exm1305205 17 26687835 [G/C] NM_152464 TMEM199 EXON Missense_L166V exm1305209 17 26688179 [T/C] NM_152464 TMEM199 EXON Missense_R178W exm1305220 17 26691310 [T/C] NM_001080837 SEBOX EXON Missense_V211I exm1305221 17 26691321 [A/G] NM_001080837 SEBOX EXON Missense_L207S exm1305223 17 26691360 [T/C] NM_001080837 SEBOX EXON Missense_Q194R exm1305227 17 26691571 [T/C] NM_001080837 SEBOX EXON Missense_D124N exm1305229 17 26691583 [A/T] NM_001080837 SEBOX EXON Missense_C120S exm1305231 17 26691652 [A/G] NM_001080837 SEBOX EXON Missense_W97R exm1305237 17 26691926 [T/C] NM_001080837 SEBOX EXON Missense_K54R exm1305238 17 26691950 [T/C] NM_001080837 SEBOX EXON Missense_R46Q exm1305241 17 26692142 [T/C] NM_001080837 SEBOX Silent exm1879482 17 26692205 [T/C] NM_001080837 SEBOX EXON Missense_R16Q exm1305247 17 26692248 [T/C] NM_001080837 SEBOX EXON Missense_G2R exm1879490 17 26694784 [A/C] NM_000638 VTN EXON Missense_V426L exm1305261 17 26694841 [T/C] NM_000638 VTN EXON Missense_S407G exm1305264 17 26694852 [A/G] NM_000638 VTN EXON Missense_S403F exm1305265 17 26694861 [A/G] NM_000638 VTN EXON Missense_T400M exm1305268 17 26694894 [T/C] NM_000638 VTN EXON Missense_R389H exm1305269 17 26694903 [T/C] NM_000638 VTN EXON Missense_S386N exm1305278 17 26695573 [G/C] NM_000638 VTN EXON Missense_I316M exm1305284 17 26695904 [T/C] NM_000638 VTN EXON Missense_Y272C exm1305286 17 26695916 [T/C] NM_000638 VTN EXON Missense_R268Q exm1305291 17 26695998 [A/G] NM_000638 VTN EXON Nonsense_R241X exm1305305 17 26696680 [T/A] NM_000638 VTN EXON Missense_E126V exm1305306 17 26696686 [A/G] NM_000638 VTN EXON Missense_A124V exm1305313 17 26696830 [A/G] NM_000638 VTN EXON Missense_T76M exm1305318 17 26696988 [G/C] NM_000638 VTN EXON Missense_Q48H exm1305349 17 26708300 [T/C] NM_015077 SARM1 EXON Synonymous_S182S exm1305351 17 26708304 [T/G] NM_015077 SARM1 EXON Missense_S184A exm1305358 17 26708550 [T/C] NM_015077 SARM1 EXON Missense_S266P exm1305361 17 26708606 [T/C] NM_015077 SARM1 EXON Synonymous_R284R exm1305368 17 26711440 [A/C] NM_015077 SARM1 EXON Missense_T384N exm1305374 17 26711532 [A/G] NM_015077 SARM1 EXON Missense_E415K exm1305390 17 26715209 [A/G] NM_015077 SARM1 EXON Synonymous_P548P exm1305392 17 26715275 [T/C] NM_015077 SARM1 EXON Synonymous_N570N exm1305396 17 26715540 [T/C] NM_015077 SARM1 EXON Synonymous_C634C exm1305410 17 26726686 [A/G] NM_015077,NM_080669,NM_001242366 SARM1,SLC46A1,SLC46A1 EXON Silent,Missense_P456S,Missense_P428S exm1305419 17 26727741 [A/G] NM_015077,NM_080669,NM_001242366 SARM1,SLC46A1,SLC46A1 EXON Silent,Missense_M403T,Missense_M375T exm1305429 17 26731832 [T/C] NM_080669,NM_001242366 SLC46A1,SLC46A1 EXON Missense_T295A,Missense_T295A exm1305436 17 26732092 [T/A] NM_080669,NM_001242366 SLC46A1,SLC46A1 EXON Missense_Y208F,Missense_Y208F exm1305444 17 26732386 [T/C] NM_080669,NM_001242366 SLC46A1,SLC46A1 EXON Missense_S110N,Missense_S110N exm1305445 17 26732420 [A/G] NM_080669,NM_001242366 SLC46A1,SLC46A1 EXON Missense_F99L,Missense_F99L exm1305450 17 26732975 [A/G] NM_080669,NM_001242366 SLC46A1,SLC46A1 EXON Missense_A53V,Missense_A53V exm1305458 17 26800821 [A/G] NM_003984,NM_001145975,NR_027384 SLC13A2,SLC13A2,SLC13A2 EXON Missense_V31I,Missense_V31I,Silent exm2225969 17 26816259 [T/C] NM_003984,NM_001145975,NR_027384 SLC13A2,SLC13A2,SLC13A2 EXON Missense_L44F,Missense_L44F,Silent exm1305467 17 26817443 [T/C] NM_003984,NM_001145975,NR_027384 SLC13A2,SLC13A2,SLC13A2 EXON Silent,Missense_P117L,Silent exm1305471 17 26817478 [G/C] NM_003984,NM_001145975,NR_027384 SLC13A2,SLC13A2,SLC13A2 EXON Missense_V80L,Missense_V129L,Silent exm2252915 17 26817537 [A/G] NM_003984,NM_001145975,NR_027384 SLC13A2,SLC13A2,SLC13A2 EXON Synonymous_A99A,Synonymous_A148A,Silent exm1305477 17 26817537 [A/G] NM_003984,NM_001145975,NR_027384 SLC13A2,SLC13A2,SLC13A2 EXON Synonymous_A99A,Synonymous_A148A,Silent exm1305481 17 26817608 [T/C] NM_003984,NM_001145975,NR_027384 SLC13A2,SLC13A2,SLC13A2 EXON Missense_P123L,Missense_P172L,Silent exm2225970 17 26821090 [T/C] NM_003984,NM_001145975,NR_027384 SLC13A2,SLC13A2,SLC13A2 EXON Missense_P385S,Missense_P434S,Silent exm1305530 17 26821412 [A/G] NM_003984,NM_001145975,NR_027384 SLC13A2,SLC13A2,SLC13A2 EXON Missense_N397S,Missense_N446S,Silent exm1305548 17 26822793 [A/G] NM_003984,NM_001145975,NR_027384 SLC13A2,SLC13A2,SLC13A2 EXON Missense_V477M,Missense_V526M,Silent exm1305550 17 26822806 [T/C] NM_003984,NM_001145975,NR_027384 SLC13A2,SLC13A2,SLC13A2 EXON Missense_T481M,Missense_T530M,Silent exm1305551 17 26822833 [T/C] NM_003984,NM_001145975,NR_027384 SLC13A2,SLC13A2,SLC13A2 EXON Missense_M490T,Missense_M539T,Silent exm1305555 17 26823498 [A/G] NM_003984,NM_001145975,NR_027384 SLC13A2,SLC13A2,SLC13A2 EXON Missense_V501I,Missense_V550I,Silent exm1305558 17 26823570 [A/G] NM_003984,NM_001145975,NR_027384 SLC13A2,SLC13A2,SLC13A2 EXON Missense_V525I,Missense_V574I,Silent exm1305562 17 26824156 [A/G] NM_003984,NM_001145975,NR_027384 SLC13A2,SLC13A2,SLC13A2 EXON Missense_I550V,Missense_I599V,Silent exm1305569 17 26824265 [A/C] NM_003984,NM_001145975,NR_027384 SLC13A2,SLC13A2,SLC13A2 EXON Missense_N586T,Missense_N635T,Silent exm2252916 17 26835775 [A/G] exm1305575 17 26851007 [T/C] NM_003593 FOXN1 EXON Missense_P7L exm1305585 17 26851602 [T/C] NM_003593 FOXN1 EXON Missense_R69C exm1305591 17 26851758 [A/G] NM_003593 FOXN1 EXON Missense_A121T exm1305593 17 26851779 [T/C] NM_003593 FOXN1 EXON Missense_R128W exm1879575 17 26851931 [C/G] NM_003593 FOXN1 EXON Missense_E178D exm1879581 17 26856125 [A/G] NM_003593 FOXN1 EXON Missense_G238D exm1305617 17 26856206 [A/C] NM_003593 FOXN1 EXON Missense_H265P exm1305621 17 26857768 [A/G] NM_003593 FOXN1 EXON Missense_I278V exm1305644 17 26861773 [T/C] NM_003593 FOXN1 EXON Missense_P395L exm1305650 17 26861877 [T/C] NM_003593 FOXN1 EXON Missense_P430S exm1305655 17 26862061 [T/C] NM_003593 FOXN1 EXON Missense_S491L exm1305663 17 26862145 [T/A] NM_003593 FOXN1 EXON Missense_L519Q exm1305664 17 26862207 [A/G] NM_003593 FOXN1 EXON Missense_D540N exm1305672 17 26864264 [A/G] NM_003593 FOXN1 EXON Missense_C586Y exm1305673 17 26864302 [C/G] NM_003593 FOXN1 EXON Missense_A599P exm1305678 17 26864390 [A/C] NM_003593 FOXN1 EXON Missense_P628H exm1305679 17 26864402 [T/C] NM_003593 FOXN1 EXON Missense_A632V exm1305699 17 26874719 [A/G] NM_005148,NM_054035 UNC119,UNC119 EXON Missense_F196L,Missense_F196L exm1305702 17 26874803 [A/G] NM_005148,NM_054035 UNC119,UNC119 EXON Missense_R168C,Missense_R168C exm2225975 17 26875038 [T/C] NM_005148,NM_054035 UNC119,UNC119 EXON Missense_R139H,Missense_R139H exm1879604 17 26875098 [T/C] NM_005148,NM_054035 UNC119,UNC119 EXON Missense_R119Q,Missense_R119Q exm1305736 17 26881426 [A/C] NM_033198 PIGS EXON Missense_A494S exm1305737 17 26881438 [T/C] NM_033198 PIGS EXON Missense_A490T exm1305739 17 26881492 [T/C] NM_033198 PIGS EXON Missense_V472I exm1305754 17 26883184 [T/C] NM_033198 PIGS EXON Missense_R394Q exm1305766 17 26883895 [A/C] NM_033198 PIGS EXON Missense_A344S exm1305770 17 26883943 [T/C] NM_033198 PIGS EXON Missense_V328M exm2225977 17 26887123 [T/C] NM_033198 PIGS EXON Missense_V255M exm1305780 17 26887128 [T/C] NM_033198 PIGS EXON Missense_R253H exm1305785 17 26888445 [G/C] NM_033198 PIGS EXON Missense_S224T exm1879628 17 26888562 [T/C] NM_033198 PIGS EXON Missense_R185H exm1305790 17 26888563 [A/G] NM_033198 PIGS EXON Missense_R185C exm1305795 17 26888631 [A/G] NM_033198 PIGS EXON Missense_I162T exm1305811 17 26898101 [A/G] NM_033198 PIGS EXON Missense_P47L exm1305822 17 26900817 [T/C] NM_005165 ALDOC EXON Missense_N312S exm1305825 17 26900862 [A/G] NM_005165 ALDOC EXON Missense_A297V exm1305828 17 26900908 [A/G] NM_005165 ALDOC EXON Missense_F282L exm1305832 17 26901111 [T/C] NM_005165 ALDOC EXON Missense_R258H exm1305840 17 26901523 [T/C] NM_005165 ALDOC EXON Missense_V205I exm1305853 17 26901988 [T/C] NM_005165 ALDOC EXON Missense_G121R exm1305858 17 26902152 [T/C] NM_005165 ALDOC EXON Missense_V105M exm1305861 17 26902203 [T/C] NM_005165 ALDOC EXON Missense_D88N exm1305878 17 26905104 [T/G] NM_006461 SPAG5 EXON Missense_N1145T exm1305880 17 26905279 [T/A] NM_006461 SPAG5 EXON Missense_M1129K exm1305902 17 26906790 [T/C] NM_006461 SPAG5 EXON Missense_M955V exm1305908 17 26907110 [G/C] NM_006461 SPAG5 EXON Missense_T905R exm1305915 17 26910922 [T/C] NM_006461 SPAG5 EXON Missense_R832Q exm1305917 17 26910977 [A/G] NM_006461 SPAG5 EXON Missense_H814Y exm1305920 17 26911215 [T/G] NM_006461 SPAG5 EXON Missense_Q789K exm1305932 17 26911681 [T/C] NM_006461 SPAG5 EXON Missense_R717H exm1305955 17 26912923 [T/C] NM_006461 SPAG5 EXON Missense_A567T exm1305960 17 26913184 [A/G] NM_006461 SPAG5 EXON Missense_I510T exm1305962 17 26913478 [T/C] NM_006461 SPAG5 EXON Missense_M493V exm1305965 17 26918795 [T/C] NM_006461 SPAG5 EXON Missense_R453Q exm1305967 17 26918804 [A/C] NM_006461 SPAG5 EXON Missense_R450L exm1305969 17 26918889 [A/G] NM_006461 SPAG5 EXON Missense_R422W exm1305970 17 26919016 [G/C] NM_006461 SPAG5 EXON Missense_E416Q exm1305971 17 26919112 [T/C] NM_006461 SPAG5 EXON Missense_V384M exm1305975 17 26919183 [T/C] NM_006461 SPAG5 EXON Missense_R360H exm1879711 17 26919336 [A/G] NM_006461 SPAG5 EXON Missense_T309I exm1305992 17 26919576 [T/C] NM_006461 SPAG5 EXON Missense_R229H exm1305998 17 26919614 [C/G] NM_006461 SPAG5 EXON Missense_C216W exm1306005 17 26919798 [T/G] NM_006461 SPAG5 EXON Missense_T155K exm1306009 17 26919894 [T/C] NM_006461 SPAG5 EXON Missense_G123D exm1306020 17 26925574 [A/G] NM_006461 SPAG5 EXON Missense_P44L exm1306026 17 26925625 [T/C] NM_006461 SPAG5 EXON Missense_R27H exm1306027 17 26925964 [T/C] NM_006461 SPAG5 EXON Missense_M1V exm1306032 17 26937711 [A/G] NR_040012,NM_001174103 SPAG5-AS1,SGK494 EXON Silent,Missense_C340R exm1306037 17 26938609 [T/C] NR_040012,NM_001174103 SPAG5-AS1,SGK494 EXON Silent,Missense_I263V exm1306043 17 26938651 [T/C] NR_040012,NM_001174103 SPAG5-AS1,SGK494 EXON Silent,Missense_G249S exm1306044 17 26938789 [A/G] NR_040012,NM_001174103 SPAG5-AS1,SGK494 EXON Silent,Nonsense_R240X exm1306047 17 26939062 [T/C] NR_040012,NM_001174103 SPAG5-AS1,SGK494 EXON Silent,Synonymous_K231K exm1306053 17 26939328 [A/G] NR_040012,NM_001174103 SPAG5-AS1,SGK494 EXON Silent,Missense_P202S exm1306054 17 26939345 [A/G] NR_040012,NM_001174103 SPAG5-AS1,SGK494 EXON Silent,Missense_S196L exm1306060 17 26939666 [T/C] NR_040012,NM_001174103 SPAG5-AS1,SGK494 EXON Silent,Missense_S173G exm1306077 17 26940561 [A/G] NR_040012,NM_001174103 SPAG5-AS1,SGK494 EXON Silent,Missense_V74A exm1306078 17 26940588 [T/A] NR_040012,NM_001174103 SPAG5-AS1,SGK494 EXON Silent,Missense_H65L exm1306079 17 26940594 [T/C] NR_040012,NM_001174103 SPAG5-AS1,SGK494 EXON Silent,Missense_Y63C exm1306080 17 26940607 [A/G] NR_040012,NM_001174103 SPAG5-AS1,SGK494 EXON Silent,Missense_R59W exm1306082 17 26940676 [A/G] NR_040012,NM_001174103 SPAG5-AS1,SGK494 EXON Silent,Nonsense_R36X exm1306089 17 26941161 [A/G] NR_040012,NM_001174103 SPAG5-AS1,SGK494 EXON Silent,Missense_R7W exm1306090 17 26941173 [T/C] NR_040012,NM_001174103 SPAG5-AS1,SGK494 EXON Silent,Missense_A3T exm1306120 17 26944263 [T/C] NR_040012,NM_014680 SPAG5-AS1,KIAA0100 EXON Silent,Missense_N1966S exm1306150 17 26948488 [T/C] NM_014680 KIAA0100 EXON Missense_R1663H exm1306162 17 26951321 [T/C] NM_014680 KIAA0100 EXON Missense_C1561Y exm1306166 17 26955337 [A/G] NM_014680 KIAA0100 EXON Missense_P1514S exm1306167 17 26955355 [T/C] NM_014680 KIAA0100 EXON Missense_T1508A exm1306186 17 26959146 [T/C] NM_014680 KIAA0100 EXON Missense_N1306S exm1306204 17 26960761 [A/G] NM_014680 KIAA0100 EXON Missense_F1091L exm1306215 17 26961066 [A/G] NM_014680 KIAA0100 EXON Missense_R1037C exm1306228 17 26961753 [T/C] NM_014680 KIAA0100 EXON Missense_R951H exm1306231 17 26961787 [A/G] NM_014680 KIAA0100 EXON Missense_R940C exm1306239 17 26962092 [A/G] NM_014680 KIAA0100 EXON Missense_L838P exm1306240 17 26962107 [T/G] NM_014680 KIAA0100 EXON Missense_D833A exm1306254 17 26962431 [A/G] NM_014680 KIAA0100 EXON Missense_P725L exm1306259 17 26962524 [G/C] NM_014680 KIAA0100 EXON Missense_A694G exm1306281 17 26964961 [T/C] NM_014680 KIAA0100 EXON Missense_K555R exm1306284 17 26965025 [T/C] NM_014680 KIAA0100 EXON Missense_A534T exm1306293 17 26965619 [A/G] NM_014680 KIAA0100 EXON Missense_S424F exm1306304 17 26967000 [A/G] NM_014680 KIAA0100 EXON Missense_R312C exm1306306 17 26967606 [T/C] NM_014680 KIAA0100 EXON Missense_V288M exm1306311 17 26968996 [A/G] NM_014680 KIAA0100 EXON Missense_T226I exm1306312 17 26969030 [A/G] NM_014680 KIAA0100 EXON Missense_R215W exm1306313 17 26969054 [A/G] NM_014680 KIAA0100 EXON Missense_C207R exm1306319 17 26969991 [A/C] NM_014680 KIAA0100 EXON Missense_H137Q exm1306324 17 26970237 [A/C] NM_014680 KIAA0100 EXON Missense_G114V exm1306338 17 26971167 [T/C] NM_014680 KIAA0100 EXON Missense_R36Q exm1306350 17 26976071 [A/G] NM_006923,NR_045585 SDF2,SDF2 EXON Missense_M191T,Silent exm1306352 17 26976104 [A/G] NM_006923,NR_045585 SDF2,SDF2 EXON Missense_A180V,Silent exm1306369 17 26988852 [T/C] NM_006923,NR_045585 SDF2,SDF2 EXON Missense_A15T,Silent exm1306410 17 27008293 [A/G] NM_003170 SUPT6H EXON Missense_M457V exm1306430 17 27010040 [T/G] NM_003170 SUPT6H EXON Missense_R603L exm1306436 17 27010340 [G/C] NM_003170 SUPT6H EXON Missense_V645L exm1306437 17 27010367 [A/C] NM_003170 SUPT6H EXON Missense_L654I exm1306444 17 27010749 [A/G] NM_003170 SUPT6H EXON Missense_R715Q exm1306449 17 27011619 [A/C] NM_003170 SUPT6H EXON Missense_L749I exm1306453 17 27011709 [A/C] NM_003170 SUPT6H EXON Missense_I779L exm1306455 17 27011891 [A/G] NM_003170 SUPT6H EXON Missense_N800S exm1306501 17 27017182 [A/G] NM_003170 SUPT6H EXON Missense_R1142H exm1306517 17 27023927 [T/A] NM_003170 SUPT6H EXON Missense_M1346L exm2252917 17 27028030 [A/C] NM_003170 SUPT6H EXON Synonymous_P1626P exm1879908 17 27028457 [A/G] NM_003170 SUPT6H EXON Synonymous_K1665K exm1306558 17 27030601 [T/G] NM_152465 PROCA1 EXON Missense_P329Q exm1306559 17 27030677 [C/G] NM_152465 PROCA1 EXON Missense_E304Q exm1306560 17 27030691 [A/G] NM_152465 PROCA1 EXON Missense_S299L exm1306561 17 27030706 [A/G] NM_152465 PROCA1 EXON Missense_I294T exm2225989 17 27030713 [T/C] NM_152465 PROCA1 EXON Missense_E292K exm2225990 17 27030791 [T/C] NM_152465 PROCA1 EXON Missense_E266K exm1306577 17 27031070 [T/C] NM_152465 PROCA1 EXON Missense_G173S exm2277112 17 27031146 [T/G] NM_152465 PROCA1 EXON Missense_E147D exm1306586 17 27031192 [T/G] NM_152465 PROCA1 EXON Missense_H132P exm1306594 17 27031419 [A/G] NM_152465 PROCA1 EXON Missense_R88W exm1306622 17 27041829 [A/G] NM_001144942,NM_001142624,NM_001144943,NM_001256276,NM_001256278,NM_001142625,NM_031934,NM_001256277 RAB34,RAB34,RAB34,RAB34,RAB34,RAB34,RAB34,RAB34 EXON Missense_R224C,Missense_R281C,Missense_R289C,Missense_R210C,Missense_R232C,Silent,Missense_R232C,Missense_R232C exm1306631 17 27042139 [A/G] NM_001144942,NM_001142624,NM_001144943,NM_001256276,NM_001256278,NM_001142625,NM_031934,NM_001256277 RAB34,RAB34,RAB34,RAB34,RAB34,RAB34,RAB34,RAB34 EXON Missense_T164I,Missense_T221I,Missense_T229I,Missense_T150I,Missense_T172I,Missense_T230I,Missense_T172I,Missense_T172I exm2273547 17 27050907 [T/C] NM_000984 RPL23A EXON Silent exm1306741 17 27052557 [T/A] NM_001160407,NM_138463 TLCD1,TLCD1 EXON Missense_L26F,Missense_L73F exm1306754 17 27053775 [T/G] NM_001160407 TLCD1 EXON Missense_S18R exm1306755 17 27053780 [T/C] NM_001160407 TLCD1 EXON Missense_R16K exm1306771 17 27061921 [T/C] NM_178170 NEK8 EXON Missense_L129F exm1306774 17 27061955 [T/G] NM_178170 NEK8 EXON Missense_R140L exm1306794 17 27064507 [A/G] NM_178170 NEK8 EXON Missense_D268N exm1306800 17 27064846 [A/G] NM_178170 NEK8 EXON Missense_R300Q exm1306801 17 27064854 [A/G] NM_178170 NEK8 EXON Missense_V303M exm1306807 17 27064935 [T/C] NM_178170 NEK8 EXON Missense_L330F exm1306811 17 27065002 [T/G] NM_178170 NEK8 EXON Missense_R352L exm1306813 17 27065134 [A/G] NM_178170 NEK8 EXON Missense_G365R exm1306818 17 27065186 [T/C] NM_178170 NEK8 EXON Missense_S382L exm1306847 17 27067552 [C/G] NM_178170 NEK8 EXON Missense_A497P exm1306854 17 27068099 [T/C] NM_178170 NEK8 EXON Missense_S579L exm1306866 17 27068454 [A/C] NM_178170 NEK8 EXON Missense_K639Q exm2252918 17 27068477 [A/C] NM_178170 NEK8 EXON Synonymous_G646G exm1306867 17 27068477 [A/C] NM_178170 NEK8 EXON Synonymous_G646G exm1306871 17 27068539 [T/C] NM_178170 NEK8 EXON Missense_T667M exm1306876 17 27068587 [A/G] NM_178170 NEK8 EXON Missense_R683Q exm1306879 17 27068978 [A/G] NM_178170 NEK8 EXON Synonymous_S684S exm1306880 17 27068994 [A/G] NM_178170 NEK8 EXON Missense_V690I exm1306899 17 27075334 [A/G] NM_004295 TRAF4 EXON Missense_A173T exm1306902 17 27075349 [T/C] NM_004295 TRAF4 EXON Missense_R178W exm1306920 17 27075976 [T/C] NM_004295 TRAF4 EXON Missense_A265V exm1880032 17 27076048 [A/G] NM_004295 TRAF4 EXON Missense_R289Q exm2276493 17 27076072 [A/G] NM_004295 TRAF4 EXON Missense_R297Q exm1306941 17 27076453 [A/G] NM_004295 TRAF4 EXON Missense_R424Q exm1306947 17 27085353 [T/C] NM_001077498,NM_018182 FAM222B,FAM222B EXON Missense_G542S,Missense_G542S exm1306951 17 27085397 [T/C] NM_001077498,NM_018182 FAM222B,FAM222B EXON Missense_R527Q,Missense_R527Q exm1306965 17 27085757 [A/G] NM_001077498,NM_018182 FAM222B,FAM222B EXON Missense_A407V,Missense_A407V exm1306976 17 27085971 [T/C] NM_001077498,NM_018182 FAM222B,FAM222B EXON Missense_A336T,Missense_A336T exm1306977 17 27085976 [G/C] NM_001077498,NM_018182 FAM222B,FAM222B EXON Missense_T334S,Missense_T334S exm1306981 17 27086079 [A/G] NM_001077498,NM_018182 FAM222B,FAM222B EXON Missense_R300C,Missense_R300C exm1306987 17 27086264 [A/G] NM_001077498,NM_018182 FAM222B,FAM222B EXON Missense_A238V,Missense_A238V exm1307005 17 27086730 [T/C] NM_001077498,NM_018182 FAM222B,FAM222B EXON Missense_T83A,Missense_T83A exm2274914 17 27182063 [T/C] NM_005702 ERAL1 EXON Missense_P4L exm1307017 17 27182203 [A/G] NM_005702 ERAL1 EXON Missense_A51T exm1307032 17 27185169 [A/G] NM_005702 ERAL1 EXON Missense_H181R exm1307042 17 27185660 [A/G] NM_005702 ERAL1 EXON Missense_N260D exm1307046 17 27185772 [T/C] NM_005702 ERAL1 EXON Missense_I297T exm1307051 17 27185833 [A/C] NM_005702 ERAL1 EXON Missense_K317N exm1307085 17 27208305 [T/C] NM_004475 FLOT2 EXON Missense_K335E exm1307087 17 27208326 [T/C] NM_004475 FLOT2 EXON Missense_A328T exm1307090 17 27208346 [T/G] NM_004475 FLOT2 EXON Missense_K321T exm1880105 17 27209396 [T/C] NM_004475 FLOT2 EXON Missense_D180N exm1307123 17 27210248 [A/C] NM_004475 FLOT2 EXON Missense_V75G exm2272583 17 27215702 [T/C] NM_004475 FLOT2 Silent exm1307138 17 27224585 [T/C] NM_004475 FLOT2 EXON Missense_N3S exm2225997 17 27224799 [T/C] NM_144683 DHRS13 EXON Silent exm2225998 17 27225577 [A/G] NM_144683 DHRS13 EXON Missense_P339L exm1307152 17 27225667 [T/C] NM_144683 DHRS13 EXON Missense_R309K exm1307161 17 27225850 [T/C] NM_144683 DHRS13 EXON Missense_R248H exm1307167 17 27228064 [T/C] NM_144683 DHRS13 EXON Missense_R209Q exm1307169 17 27228076 [A/G] NM_144683 DHRS13 EXON Missense_V205A exm2225999 17 27228118 [T/C] NM_144683 DHRS13 EXON Missense_R191Q exm1307174 17 27228166 [T/C] NM_144683 DHRS13 EXON Missense_R175Q exm1307177 17 27228199 [T/C] NM_144683 DHRS13 EXON Missense_R164H exm1307179 17 27228254 [G/C] NM_144683 DHRS13 EXON Missense_P146A exm1307184 17 27228302 [A/G] NM_144683 DHRS13 EXON Missense_R130W exm1307185 17 27228318 [A/G] NM_144683 DHRS13 EXON Synonymous_G124G exm1307202 17 27233221 [A/G] NM_001033561 PHF12 EXON Missense_R999C exm1307207 17 27233280 [A/G] NM_001033561 PHF12 EXON Missense_L979P exm1307227 17 27237307 [T/C] NM_001033561 PHF12 EXON Missense_V766I exm1307233 17 27238135 [T/C] NM_001033561 PHF12 EXON Missense_N737S exm1307241 17 27239596 [T/C] NM_001033561,NM_020889 PHF12,PHF12 EXON Missense_N665D,Missense_N665D exm1307249 17 27239829 [A/G] NM_001033561,NM_020889 PHF12,PHF12 EXON Missense_P587L,Missense_P587L exm1307253 17 27239886 [C/G] NM_001033561,NM_020889 PHF12,PHF12 EXON Missense_A568G,Missense_A568G exm1307272 17 27240970 [T/C] NM_001033561,NM_020889 PHF12,PHF12 EXON Missense_N407S,Missense_N407S exm1307311 17 27283248 [A/G] NM_001098635,NM_178860 SEZ6,SEZ6 EXON Missense_R961C,Missense_R961C exm1307312 17 27283450 [T/C] NM_001098635,NM_178860 SEZ6,SEZ6 EXON Missense_A923T,Missense_A923T exm1307315 17 27283752 [T/C] NM_001098635,NM_178860 SEZ6,SEZ6 EXON Missense_S906G,Missense_S906G exm1880182 17 27284173 [A/G] NM_001098635,NM_178860 SEZ6,SEZ6 EXON Missense_T861I,Missense_T861I exm1307323 17 27284194 [T/C] NM_001098635,NM_178860 SEZ6,SEZ6 EXON Missense_Q854R,Missense_Q854R exm1880185 17 27284366 [A/G] NM_001098635,NM_178860 SEZ6,SEZ6 EXON Synonymous_L832L,Synonymous_L832L exm1307332 17 27284413 [T/C] NM_001098635,NM_178860 SEZ6,SEZ6 EXON Missense_R816H,Missense_R816H exm1307334 17 27284443 [A/G] NM_001098635,NM_178860 SEZ6,SEZ6 EXON Missense_M806T,Missense_M806T exm1307340 17 27285076 [T/C] NM_001098635,NM_178860 SEZ6,SEZ6 EXON Missense_G731S,Missense_G731S exm1880189 17 27286153 [T/C] NM_001098635,NM_178860 SEZ6,SEZ6 EXON Missense_R666H,Missense_R666H exm1307348 17 27286234 [T/C] NM_001098635,NM_178860 SEZ6,SEZ6 EXON Missense_R639H,Missense_R639H exm1307353 17 27286419 [A/G] NM_001098635,NM_178860 SEZ6,SEZ6 EXON Missense_R615C,Missense_R615C exm1307359 17 27286753 [G/C] NM_001098635,NM_178860 SEZ6,SEZ6 EXON Missense_H578Q,Missense_H578Q exm1307365 17 27286851 [T/C] NM_001098635,NM_178860 SEZ6,SEZ6 EXON Missense_T546A,Missense_T546A exm1307380 17 27290989 [T/C] NM_001098635,NM_178860 SEZ6,SEZ6 EXON Missense_V411I,Missense_V411I exm2274915 17 27291046 [C/G] NM_001098635,NM_178860 SEZ6,SEZ6 EXON Missense_A392P,Missense_A392P exm1307388 17 27291138 [T/C] NM_001098635,NM_178860 SEZ6,SEZ6 EXON Missense_R361H,Missense_R361H exm1307398 17 27306820 [A/G] NM_001098635,NM_178860 SEZ6,SEZ6 EXON Missense_W246R,Missense_W246R exm1307402 17 27308503 [T/C] NM_001098635,NM_178860 SEZ6,SEZ6 EXON Missense_A204T,Missense_A204T exm1307417 17 27308767 [A/G] NM_001098635,NM_178860 SEZ6,SEZ6 EXON Missense_R116C,Missense_R116C exm1307424 17 27308950 [T/C] NM_001098635,NM_178860 SEZ6,SEZ6 EXON Missense_V55I,Missense_V55I exm1307426 17 27308955 [T/C] NM_001098635,NM_178860 SEZ6,SEZ6 EXON Missense_R53Q,Missense_R53Q exm1307427 17 27308971 [T/G] NM_001098635,NM_178860 SEZ6,SEZ6 EXON Missense_P48T,Missense_P48T exm1307429 17 27309034 [T/C] NM_001098635,NM_178860 SEZ6,SEZ6 EXON Missense_V27M,Missense_V27M exm1307446 17 27379969 [A/G] NM_016518 PIPOX EXON Missense_E99K exm1307450 17 27380072 [A/G] NM_016518 PIPOX EXON Missense_R133Q exm1307467 17 27380543 [A/G] NM_016518 PIPOX EXON Missense_S197N exm1880231 17 27380585 [A/G] NM_016518 PIPOX EXON Missense_R211H exm1307479 17 27381621 [T/C] NM_016518 PIPOX EXON Missense_S240F exm2274916 17 27381687 [T/G] NM_016518 PIPOX EXON Missense_G262V exm1307486 17 27382150 [A/G] NM_016518 PIPOX EXON Missense_G293R exm1307489 17 27382209 [C/G] NM_016518 PIPOX EXON Missense_E312D exm1307507 17 27400983 [T/C] NM_078471,NM_203318,NM_004740 MYO18A,MYO18A,TIAF1 EXON Silent,Silent,Missense_V79I exm1307508 17 27401009 [T/C] NM_078471,NM_203318,NM_004740 MYO18A,MYO18A,TIAF1 EXON Silent,Silent,Missense_R70H exm1307509 17 27401010 [A/G] NM_078471,NM_203318,NM_004740 MYO18A,MYO18A,TIAF1 EXON Silent,Silent,Missense_R70C exm1307512 17 27401061 [T/C] NM_078471,NM_203318,NM_004740 MYO18A,MYO18A,TIAF1 EXON Silent,Silent,Missense_V53M exm1307514 17 27401075 [T/A] NM_078471,NM_203318,NM_004740 MYO18A,MYO18A,TIAF1 EXON Silent,Silent,Missense_Y48F exm1307526 17 27401793 [T/C] NM_078471,NM_203318,NM_004740 MYO18A,MYO18A,TIAF1 EXON Missense_A2054T,Missense_A2039T,Silent exm1307532 17 27401852 [T/C] NM_078471,NM_203318,NM_004740 MYO18A,MYO18A,TIAF1 EXON Missense_R2034Q,Missense_R2019Q,Silent exm1307543 17 27413528 [T/C] NM_078471,NM_203318 MYO18A,MYO18A EXON Missense_K1927R,Missense_K1927R exm1307560 17 27417090 [A/C] NM_078471,NM_203318 MYO18A,MYO18A EXON Missense_E1805D,Missense_E1805D exm1307567 17 27417925 [T/C] NM_078471,NM_203318 MYO18A,MYO18A EXON Missense_R1736H,Missense_R1736H exm1307575 17 27420009 [T/C] NM_078471,NM_203318 MYO18A,MYO18A EXON Missense_R1646Q,Missense_R1646Q exm1307585 17 27421108 [T/C] NM_078471,NM_203318 MYO18A,MYO18A EXON Missense_A1571T,Missense_A1571T exm1307610 17 27424848 [A/G] NM_078471,NM_203318 MYO18A,MYO18A EXON Missense_R1354W,Missense_R1354W exm2226007 17 27424885 [G/C] NM_078471,NM_203318 MYO18A,MYO18A EXON Missense_E1341D,Missense_E1341D exm1880296 17 27425172 [A/G] NM_078471,NM_203318 MYO18A,MYO18A EXON Missense_A1314V,Missense_A1314V exm1307622 17 27425854 [T/C] NM_078471,NM_203318 MYO18A,MYO18A EXON Missense_R1257Q,Missense_R1257Q exm1307634 17 27426753 [A/G] NM_078471,NM_203318 MYO18A,MYO18A EXON Missense_R1179W,Missense_R1179W exm1307650 17 27437032 [A/G] NM_078471,NM_203318 MYO18A,MYO18A EXON Missense_R1059C,Missense_R1059C exm1307668 17 27438781 [T/C] NM_078471,NM_203318 MYO18A,MYO18A EXON Missense_R900H,Missense_R900H exm1307669 17 27438782 [A/G] NM_078471,NM_203318 MYO18A,MYO18A EXON Missense_R900C,Missense_R900C exm1880331 17 27442042 [G/C] NM_078471,NM_203318 MYO18A,MYO18A EXON Missense_Q798H,Missense_Q798H exm1880339 17 27442837 [T/C] NM_078471,NM_203318 MYO18A,MYO18A EXON Missense_R691H,Missense_R691H exm1880341 17 27445161 [A/G] NM_078471,NM_203318 MYO18A,MYO18A EXON Missense_A647V,Missense_A647V exm1307716 17 27446423 [A/G] NM_078471,NM_203318 MYO18A,MYO18A EXON Missense_R587W,Missense_R587W exm1307717 17 27447698 [T/C] NM_078471,NM_203318 MYO18A,MYO18A EXON Missense_R555H,Missense_R555H exm2252919 17 27448035 [A/G] NM_078471,NM_203318 MYO18A,MYO18A EXON Synonymous_S522S,Synonymous_S522S exm1307722 17 27448035 [A/G] NM_078471,NM_203318 MYO18A,MYO18A EXON Synonymous_S522S,Synonymous_S522S exm1307724 17 27448045 [A/G] NM_078471,NM_203318 MYO18A,MYO18A EXON Missense_A519V,Missense_A519V exm1307726 17 27448121 [T/C] NM_078471,NM_203318 MYO18A,MYO18A EXON Missense_I494V,Missense_I494V exm2226008 17 27448660 [A/G] NM_078471,NM_203318 MYO18A,MYO18A EXON Missense_R426C,Missense_R426C exm1307738 17 27448686 [T/C] NM_078471,NM_203318 MYO18A,MYO18A EXON Missense_N417S,Missense_N417S exm1307746 17 27492989 [T/C] NM_078471,NM_203318 MYO18A,MYO18A EXON Missense_G324S,Missense_G324S exm1307748 17 27493013 [A/G] NM_078471,NM_203318 MYO18A,MYO18A EXON Missense_L316F,Missense_L316F exm1307756 17 27493366 [C/G] NM_078471,NM_203318 MYO18A,MYO18A EXON Missense_T198S,Missense_T198S exm2267995 17 27536988 [A/G] exm1307777 17 27576202 [T/C] NM_005208 CRYBA1 EXON Missense_P25L exm1307779 17 27576217 [T/C] NM_005208 CRYBA1 EXON Missense_P30L exm1307790 17 27577276 [A/G] NM_005208 CRYBA1 EXON Missense_R58H exm1307801 17 27579212 [A/G] NM_005208 CRYBA1 EXON Missense_I116V exm1307806 17 27580775 [A/G] NM_005208 CRYBA1 EXON Missense_G159S exm1307824 17 27613267 [G/C] NM_020772 NUFIP2 EXON Missense_S582C exm2274917 17 27613663 [C/G] NM_020772 NUFIP2 EXON Missense_T450R exm1307842 17 27613777 [A/G] NM_020772 NUFIP2 EXON Missense_A412V exm1307843 17 27613832 [T/A] NM_020772 NUFIP2 EXON Missense_S394T exm1307844 17 27613838 [T/C] NM_020772 NUFIP2 EXON Missense_T392A exm1307846 17 27613897 [T/C] NM_020772 NUFIP2 EXON Missense_N372S exm1307854 17 27614185 [A/G] NM_020772 NUFIP2 EXON Missense_S276L exm1307855 17 27614186 [A/G] NM_020772 NUFIP2 EXON Missense_S276P exm1307856 17 27614218 [T/C] NM_020772 NUFIP2 EXON Missense_Y265C exm1307867 17 27614689 [A/G] NM_020772 NUFIP2 EXON Missense_L108S exm1307868 17 27614733 [A/G] NM_020772 NUFIP2 EXON Synonymous_G93G exm1307869 17 27620815 [T/G] NM_020772 NUFIP2 EXON Missense_P88Q exm1307881 17 27621034 [T/C] NM_020772 NUFIP2 EXON Missense_S15N exm-rs2138852 17 27703349 [T/C] exm1307910 17 27822600 [A/G] NM_025142,NM_020791 TAOK1,TAOK1 EXON Missense_R285H,Missense_R285H exm1307919 17 27829701 [A/G] NM_025142,NM_020791 TAOK1,TAOK1 EXON Missense_R433H,Missense_R433H exm2226015 17 27869597 [A/G] NM_025142,NM_020791 TAOK1,TAOK1 EXON Missense_A707T,Missense_A855T exm1307963 17 27870028 [A/G] NM_025142,NM_020791 TAOK1,TAOK1 EXON Missense_M850I,Missense_M998I exm1307968 17 27889602 [A/G] NM_198147 ABHD15 EXON Missense_W462R exm1307986 17 27889902 [T/C] NM_198147 ABHD15 EXON Missense_V362M exm1307998 17 27889986 [T/C] NM_198147 ABHD15 EXON Missense_T334A exm1308002 17 27890043 [A/G] NM_198147 ABHD15 EXON Nonsense_R315X exm1308006 17 27890082 [T/C] NM_198147 ABHD15 EXON Missense_T302A exm1308042 17 27896342 [C/G] NM_138349 TP53I13 EXON Missense_P50A exm1308045 17 27898670 [T/C] NM_138349 TP53I13 EXON Missense_A82V exm1308050 17 27898903 [T/C] NM_138349 TP53I13 EXON Missense_A114V exm1308052 17 27898959 [T/C] NM_138349 TP53I13 EXON Missense_R133W exm1308062 17 27899193 [T/C] NM_138349 TP53I13 EXON Missense_R183W exm1308069 17 27899428 [A/G] NM_138349 TP53I13 EXON Missense_G261D exm1308080 17 27899662 [T/G] NM_138349 TP53I13 EXON Missense_R339L exm1308165 17 27908761 [A/C] NM_001085454,NM_014030 GIT1,GIT1 EXON Synonymous_P239P,Synonymous_P239P exm1308191 17 27910045 [A/G] NM_001085454,NM_014030 GIT1,GIT1 EXON Missense_T66M,Missense_T66M exm1880533 17 27910524 [T/C] NM_001085454,NM_014030 GIT1,GIT1 EXON Missense_A55T,Missense_A55T exm1308195 17 27910532 [T/C] NM_001085454,NM_014030 GIT1,GIT1 EXON Missense_R52H,Missense_R52H exm-rs3110496 17 27917771 [A/G] exm1308202 17 27920689 [T/C] NM_152345 ANKRD13B EXON Missense_P17L exm2252921 17 27934852 [A/G] NM_152345 ANKRD13B EXON Synonymous_A69A exm1308228 17 27935931 [G/C] NM_152345 ANKRD13B EXON Missense_L162V exm2252922 17 27938995 [A/C] NM_152345 ANKRD13B EXON Synonymous_R357R exm1308280 17 27942757 [T/G] NM_032854 CORO6 EXON Missense_T471K exm1308285 17 27943024 [A/G] NM_032854 CORO6 EXON Missense_L411P exm1308291 17 27943105 [A/G] NM_032854 CORO6 EXON Missense_A384V exm1308297 17 27943320 [T/C] NM_032854 CORO6 EXON Missense_I347V exm1308302 17 27944000 [A/G] NM_032854 CORO6 EXON Missense_P272S exm1308310 17 27944520 [A/G] NM_032854 CORO6 EXON Missense_P251S exm1308330 17 27946674 [A/T] NM_032854 CORO6 EXON Missense_I106F exm1308350 17 27957950 [T/C] NM_033389 SSH2 EXON Missense_R1394H exm1308351 17 27957951 [A/G] NM_033389 SSH2 EXON Missense_R1394C exm1308357 17 27958172 [T/G] NM_033389 SSH2 EXON Missense_T1320N exm1308362 17 27958275 [T/G] NM_033389 SSH2 EXON Missense_L1286I exm2252923 17 27958335 [A/G] NM_033389 SSH2 EXON Synonymous_L1266L exm1880592 17 27958628 [A/G] NM_033389 SSH2 EXON Missense_L1168P exm1308382 17 27958790 [C/G] NM_033389 SSH2 EXON Missense_A1114G exm1308391 17 27958931 [T/C] NM_033389 SSH2 EXON Missense_N1067S exm1308394 17 27958997 [T/G] NM_033389 SSH2 EXON Missense_N1045T exm1308399 17 27959136 [C/G] NM_033389 SSH2 EXON Missense_Q999E exm1308404 17 27959223 [C/G] NM_033389 SSH2 EXON Missense_E970Q exm1308406 17 27959264 [A/G] NM_033389 SSH2 EXON Missense_A956V exm1308414 17 27959444 [T/C] NM_033389 SSH2 EXON Missense_R896H exm1308417 17 27959544 [A/G] NM_033389 SSH2 EXON Missense_P863S exm1308425 17 27959843 [A/G] NM_033389 SSH2 EXON Missense_V763A exm1308429 17 27959903 [A/G] NM_033389 SSH2 EXON Missense_S743L exm1308438 17 27963141 [T/C] NM_033389 SSH2 EXON Missense_M676V exm1308449 17 27963431 [C/G] NM_033389 SSH2 EXON Missense_P579R exm1308454 17 27963534 [T/C] NM_033389 SSH2 EXON Missense_E545K exm1308455 17 27963551 [T/G] NM_033389 SSH2 EXON Missense_A539D exm1308461 17 27963753 [T/C] NM_033389 SSH2 EXON Missense_I472V exm1308487 17 27998978 [T/C] NM_033389 SSH2 EXON Missense_D235N exm1308488 17 27998987 [A/G] NM_033389 SSH2 EXON Missense_H232Y exm1880618 17 28004744 [G/C] NM_033389 SSH2 EXON Missense_M138I exm1308503 17 28029992 [A/G] NM_033389 SSH2 EXON Missense_R66W exm1308508 17 28120918 [A/G] NM_033389 SSH2 EXON Missense_P34L exm2272505 17 28195773 [T/C] NM_033389 SSH2 Silent exm1308515 17 28268817 [A/G] NM_001145053,NR_026738,NM_198529 EFCAB5,EFCAB5,EFCAB5 EXON Silent,Silent,Missense_M1I exm1308518 17 28268857 [A/G] NM_001145053,NR_026738,NM_198529 EFCAB5,EFCAB5,EFCAB5 Silent,Silent,Silent exm1308519 17 28270598 [T/C] NM_001145053,NR_026738,NM_198529 EFCAB5,EFCAB5,EFCAB5 EXON Silent,Silent,Missense_P41S exm1308525 17 28295809 [A/G] NM_001145053,NR_026738,NM_198529 EFCAB5,EFCAB5,EFCAB5 EXON Missense_E8G,Silent,Missense_E64G exm1308541 17 28296168 [A/C] NM_001145053,NR_026738,NM_198529 EFCAB5,EFCAB5,EFCAB5 EXON Missense_P128T,Silent,Missense_P184T exm1308542 17 28296169 [A/C] NM_001145053,NR_026738,NM_198529 EFCAB5,EFCAB5,EFCAB5 EXON Missense_P128H,Silent,Missense_P184H exm1308546 17 28296327 [T/G] NM_001145053,NR_026738,NM_198529 EFCAB5,EFCAB5,EFCAB5 EXON Missense_L181V,Silent,Missense_L237V exm1308548 17 28320248 [A/T] NM_001145053,NR_026738,NM_198529 EFCAB5,EFCAB5,EFCAB5 EXON Missense_I222K,Silent,Missense_I278K exm1308550 17 28320295 [A/G] NM_001145053,NR_026738,NM_198529 EFCAB5,EFCAB5,EFCAB5 EXON Missense_D238N,Silent,Missense_D294N exm1308551 17 28320302 [A/G] NM_001145053,NR_026738,NM_198529 EFCAB5,EFCAB5,EFCAB5 EXON Nonsense_W240X,Silent,Nonsense_W296X exm1308553 17 28320335 [A/C] NM_001145053,NR_026738,NM_198529 EFCAB5,EFCAB5,EFCAB5 EXON Nonsense_S251X,Silent,Nonsense_S307X exm1308556 17 28323339 [A/G] NM_001145053,NR_026738,NM_198529 EFCAB5,EFCAB5,EFCAB5 EXON Missense_V256I,Silent,Missense_V312I exm1308561 17 28361333 [A/G] NM_001145053,NR_026738,NM_198529 EFCAB5,EFCAB5,EFCAB5 EXON Missense_R321Q,Silent,Missense_R377Q exm1308564 17 28378206 [T/G] NM_001145053,NR_026738,NM_198529 EFCAB5,EFCAB5,EFCAB5 EXON Missense_L368R,Silent,Missense_L424R exm1308565 17 28378221 [A/G] NM_001145053,NR_026738,NM_198529 EFCAB5,EFCAB5,EFCAB5 EXON Missense_R373Q,Silent,Missense_R429Q exm1308566 17 28378229 [T/C] NM_001145053,NR_026738,NM_198529 EFCAB5,EFCAB5,EFCAB5 EXON Nonsense_R376X,Silent,Nonsense_R432X exm1308570 17 28380413 [G/C] NM_001145053,NR_026738,NM_198529 EFCAB5,EFCAB5,EFCAB5 EXON Missense_Q425E,Silent,Missense_Q481E exm1308572 17 28380468 [T/C] NM_001145053,NR_026738,NM_198529 EFCAB5,EFCAB5,EFCAB5 EXON Missense_S443L,Silent,Missense_S499L exm1308576 17 28380566 [A/C] NM_001145053,NR_026738,NM_198529 EFCAB5,EFCAB5,EFCAB5 EXON Missense_P476T,Silent,Missense_P532T exm1308578 17 28380655 [T/G] NM_001145053,NR_026738,NM_198529 EFCAB5,EFCAB5,EFCAB5 EXON Missense_R505S,Silent,Missense_R561S exm1308584 17 28380824 [T/C] NM_001145053,NR_026738,NM_198529 EFCAB5,EFCAB5,EFCAB5 EXON Nonsense_R562X,Silent,Nonsense_R618X exm1308585 17 28380857 [T/C] NM_001145053,NR_026738,NM_198529 EFCAB5,EFCAB5,EFCAB5 EXON Missense_R573C,Silent,Missense_R629C exm1308598 17 28382984 [T/G] NM_001145053,NR_026738,NM_198529 EFCAB5,EFCAB5,EFCAB5 Silent,Silent,Silent exm1308607 17 28384861 [A/G] NM_001145053,NR_026738,NM_198529 EFCAB5,EFCAB5,EFCAB5 EXON Missense_E789K,Silent,Missense_E845K exm1880644 17 28386633 [T/A] NM_001145053,NR_026738,NM_198529 EFCAB5,EFCAB5,EFCAB5 EXON Silent,Silent,Missense_D884V exm1308616 17 28405334 [A/T] NM_198529 EFCAB5 EXON Missense_R947W exm1308618 17 28405349 [T/C] NM_198529 EFCAB5 EXON Nonsense_Q952X exm1308622 17 28405431 [A/G] NM_198529 EFCAB5 EXON Missense_R979Q exm2272506 17 28406018 [T/C] NM_198529 EFCAB5 Silent exm1308628 17 28407223 [T/C] NM_198529 EFCAB5 EXON Missense_L1054P exm1308637 17 28407931 [T/G] NM_198529 EFCAB5 EXON Missense_A1120S exm1308638 17 28407957 [A/C] NM_198529 EFCAB5 EXON Missense_H1128Q exm1308645 17 28410008 [A/G] NM_198529 EFCAB5 EXON Missense_T1176A exm1308647 17 28414099 [T/C] NM_198529 EFCAB5 EXON Missense_R1200C exm1308650 17 28417510 [T/C] NM_198529 EFCAB5 EXON Missense_V1252A exm1308652 17 28417534 [A/G] NM_198529 EFCAB5 EXON Missense_G1260E exm1308653 17 28417566 [A/G] NM_198529 EFCAB5 EXON Missense_G1271S exm1308654 17 28417576 [C/G] NM_198529 EFCAB5 EXON Missense_R1274T exm2264641 17 28418765 [A/C] NM_198529 EFCAB5 Silent exm1308664 17 28419090 [A/G] NM_198529 EFCAB5 EXON Missense_R1380H exm1308676 17 28435019 [C/G] NM_198529 EFCAB5 EXON Missense_G1497R exm1308677 17 28443834 [A/G] NM_001261467,NM_032141 NSRP1,NSRP1 EXON Silent,Silent exm1308687 17 28445108 [A/G] NM_001261467,NM_032141 NSRP1,NSRP1 EXON Silent,Missense_I11V exm1308692 17 28505174 [A/C] NM_001261467,NM_032141 NSRP1,NSRP1 EXON Missense_K32T,Missense_K86T exm1308693 17 28505192 [A/C] NM_001261467,NM_032141 NSRP1,NSRP1 EXON Missense_K38T,Missense_K92T exm1308695 17 28506112 [A/G] NM_001261467,NM_032141 NSRP1,NSRP1 EXON Missense_K48R,Missense_K102R exm1308698 17 28506253 [A/C] NM_001261467,NM_032141 NSRP1,NSRP1 EXON Missense_K95T,Missense_K149T exm1308701 17 28508025 [A/G] NM_001261467,NM_032141 NSRP1,NSRP1 EXON Missense_R149H,Missense_R203H exm1308713 17 28511883 [T/C] NM_001261467,NM_032141 NSRP1,NSRP1 EXON Missense_R236W,Missense_R290W exm1308714 17 28511884 [A/G] NM_001261467,NM_032141 NSRP1,NSRP1 EXON Missense_R236Q,Missense_R290Q exm1308724 17 28511997 [G/C] NM_001261467,NM_032141 NSRP1,NSRP1 EXON Missense_Q274E,Missense_Q328E exm1308729 17 28512039 [A/G] NM_001261467,NM_032141 NSRP1,NSRP1 EXON Missense_D288N,Missense_D342N exm2226027 17 28512093 [A/G] NM_001261467,NM_032141 NSRP1,NSRP1 EXON Missense_E306K,Missense_E360K exm1880676 17 28512323 [T/G] NM_001261467,NM_032141 NSRP1,NSRP1 EXON Missense_D382E,Missense_D436E exm1308738 17 28512333 [C/G] NM_001261467,NM_032141 NSRP1,NSRP1 EXON Missense_R386G,Missense_R440G exm1880677 17 28512334 [A/G] NM_001261467,NM_032141 NSRP1,NSRP1 EXON Missense_R386Q,Missense_R440Q exm1308739 17 28512405 [A/G] NM_001261467,NM_032141 NSRP1,NSRP1 EXON Missense_D410N,Missense_D464N exm1308754 17 28525548 [A/G] NM_001045 SLC6A4 EXON Missense_R607C exm1308756 17 28530193 [T/G] NM_001045 SLC6A4 EXON Missense_K605N exm1308776 17 28537589 [A/G] NM_001045 SLC6A4 EXON Missense_F465L exm1308785 17 28538330 [T/C] NM_001045 SLC6A4 EXON Synonymous_T439T exm1308787 17 28538374 [T/C] NM_001045 SLC6A4 EXON Missense_I425V exm1308801 17 28543148 [A/G] NM_001045 SLC6A4 EXON Synonymous_G308G exm2252925 17 28543148 [A/G] NM_001045 SLC6A4 EXON Synonymous_G308G exm1880708 17 28543194 [A/G] NM_001045 SLC6A4 EXON Missense_S293F exm1308802 17 28543225 [A/C] NM_001045 SLC6A4 EXON Missense_V283L exm1308803 17 28544299 [T/C] NM_001045 SLC6A4 EXON Missense_R241Q exm1880712 17 28544315 [T/C] NM_001045 SLC6A4 EXON Missense_V236I exm1308810 17 28545257 [T/C] NM_001045 SLC6A4 EXON Missense_D193N exm2226030 17 28548655 [T/C] NM_001045 SLC6A4 EXON Missense_I108V exm1308827 17 28548810 [C/G] NM_001045 SLC6A4 EXON Missense_G56A exm1308829 17 28548843 [T/C] NM_001045 SLC6A4 EXON Missense_N45S exm1308830 17 28548856 [T/C] NM_001045 SLC6A4 EXON Missense_G41R exm1308832 17 28548904 [T/C] NM_001045 SLC6A4 EXON Missense_G25R exm1308836 17 28576076 [T/C] NM_000386 BLMH EXON Missense_I443V exm1308842 17 28598294 [T/C] NM_000386 BLMH EXON Missense_E381K exm2226032 17 28598356 [A/G] NM_000386 BLMH EXON Missense_A360V exm1308862 17 28612470 [T/G] NM_000386 BLMH EXON Missense_N194T exm2252928 17 28614849 [T/C] NM_000386 BLMH EXON Synonymous_Q146Q exm1308892 17 28645905 [A/G] NM_206832 TMIGD1 EXON Missense_P223S exm1308894 17 28651840 [T/C] NM_206832 TMIGD1 EXON Missense_V212I exm1308895 17 28651857 [A/G] NM_206832 TMIGD1 EXON Missense_L206S exm2226034 17 28651945 [A/G] NM_206832 TMIGD1 EXON Missense_S177P exm1308907 17 28652046 [A/C] NM_206832 TMIGD1 EXON Missense_C143F exm1308914 17 28656323 [A/G] NM_206832 TMIGD1 EXON Missense_C103R exm1308922 17 28656461 [C/G] NM_206832 TMIGD1 EXON Missense_Q57E exm1308927 17 28659081 [T/C] NM_206832 TMIGD1 EXON Missense_R24H exm1308935 17 28706160 [T/G] NM_001304 CPD EXON Missense_Q54H exm1308943 17 28706459 [A/G] NM_001304 CPD EXON Missense_R154H exm1880787 17 28712161 [A/G] NM_001304,NM_001199775 CPD,CPD EXON Missense_I301V,Missense_I54V exm1308965 17 28747973 [A/G] NM_001304,NM_001199775 CPD,CPD EXON Missense_R370H,Missense_R123H exm1308968 17 28748788 [G/C] NM_001304,NM_001199775 CPD,CPD EXON Missense_R415T,Missense_R168T exm1308979 17 28749880 [A/G] NM_001304,NM_001199775 CPD,CPD EXON Missense_K499R,Missense_K252R exm1308986 17 28754502 [T/C] NM_001304,NM_001199775 CPD,CPD EXON Missense_T648M,Missense_T401M exm1308996 17 28758889 [G/C] NM_001304,NM_001199775 CPD,CPD EXON Missense_S706C,Missense_S459C exm1309000 17 28770832 [A/G] NM_001304,NM_001199775 CPD,CPD EXON Missense_V796I,Missense_V549I exm1309001 17 28770862 [A/G] NM_001304,NM_001199775 CPD,CPD EXON Missense_G806S,Missense_G559S exm1309002 17 28770886 [A/G] NM_001304,NM_001199775 CPD,CPD EXON Missense_I814V,Missense_I567V exm1309009 17 28772861 [T/C] NM_001304,NM_001199775 CPD,CPD EXON Missense_T899I,Missense_T652I exm1309018 17 28778817 [T/C] NM_001304,NM_001199775 CPD,CPD EXON Missense_I1053T,Missense_I806T exm1309021 17 28783275 [A/G] NM_001304,NM_001199775 CPD,CPD EXON Synonymous_V1113V,Synonymous_V866V exm1309024 17 28783346 [A/T] NM_001304,NM_001199775 CPD,CPD EXON Missense_Q1137L,Missense_Q890L exm1309045 17 28791672 [A/G] NM_001304,NM_001199775 CPD,CPD EXON Missense_N1328S,Missense_N1081S exm1309046 17 28791746 [A/G] NM_001304,NM_001199775 CPD,CPD EXON Missense_T1353A,Missense_T1106A exm1309047 17 28791749 [A/G] NM_001304,NM_001199775 CPD,CPD EXON Missense_G1354S,Missense_G1107S exm1309054 17 28804458 [A/G] NM_001007025,NM_001007024,NM_004871 GOSR1,GOSR1,GOSR1 EXON Missense_A3T,Silent,Missense_A3T exm1309071 17 28817211 [T/C] NM_001007025,NM_001007024,NM_004871 GOSR1,GOSR1,GOSR1 EXON Missense_M137T,Missense_M74T,Missense_M139T exm1309108 17 28889890 [T/G] NM_015594 TBC1D29 EXON Missense_L61R exm1309133 17 29111368 [A/G] NM_015986,NR_073118 CRLF3,CRLF3 EXON Missense_L389P,Silent exm1309139 17 29112938 [A/G] NM_015986,NR_073118 CRLF3,CRLF3 EXON Synonymous_N357N,Silent exm1309154 17 29120588 [T/C] NM_015986,NR_073118 CRLF3,CRLF3 EXON Missense_V236I,Silent exm1309155 17 29120590 [A/G] NM_015986,NR_073118 CRLF3,CRLF3 EXON Missense_I235T,Silent exm1309162 17 29123263 [T/C] NM_015986,NR_073118 CRLF3,CRLF3 EXON Missense_K173R,Silent exm1309184 17 29161202 [A/T] NM_024857 ATAD5 EXON Missense_T35S exm2252933 17 29161253 [A/C] NM_024857 ATAD5 EXON Synonymous_R52R exm1309185 17 29161253 [A/C] NM_024857 ATAD5 EXON Synonymous_R52R exm1309187 17 29161358 [T/C] NM_024857 ATAD5 EXON Missense_P87S exm1309192 17 29161503 [A/G] NM_024857 ATAD5 EXON Missense_E135G exm2252934 17 29161516 [T/C] NM_024857 ATAD5 EXON Synonymous_D139D exm1309194 17 29161516 [T/C] NM_024857 ATAD5 EXON Synonymous_D139D exm1309195 17 29161517 [A/G] NM_024857 ATAD5 EXON Missense_D140N exm1309201 17 29161845 [A/G] NM_024857 ATAD5 EXON Missense_R249K exm1309211 17 29161991 [A/G] NM_024857 ATAD5 EXON Missense_E298K exm1309212 17 29162018 [A/G] NM_024857 ATAD5 EXON Missense_E307K exm1309214 17 29162051 [T/C] NM_024857 ATAD5 EXON Missense_R318C exm1309216 17 29162076 [T/C] NM_024857 ATAD5 EXON Missense_A326V exm1309221 17 29162193 [A/G] NM_024857 ATAD5 EXON Missense_Q365R exm1309230 17 29162546 [A/G] NM_024857 ATAD5 EXON Missense_K483E exm1309237 17 29162784 [T/C] NM_024857 ATAD5 EXON Missense_S562L exm1309238 17 29162826 [A/C] NM_024857 ATAD5 EXON Missense_Q576P exm1309242 17 29162972 [C/G] NM_024857 ATAD5 EXON Missense_A625P exm1309250 17 29167653 [A/C] NM_024857 ATAD5 EXON Missense_N699H exm1309257 17 29170962 [T/C] NM_024857 ATAD5 EXON Missense_T758I exm1309259 17 29171026 [T/A] NM_024857 ATAD5 EXON Missense_K779N exm1309265 17 29182208 [T/C] NM_024857 ATAD5 EXON Missense_A833V exm1309282 17 29187451 [T/A] NM_024857 ATAD5 EXON Missense_E986V exm1309283 17 29187463 [T/A] NM_024857 ATAD5 EXON Missense_D990V exm1309292 17 29203442 [T/C] NM_024857 ATAD5 EXON Missense_P1220S exm1880950 17 29203520 [A/C] NM_024857 ATAD5 EXON Missense_K1246Q exm1309304 17 29205072 [T/C] NM_024857 ATAD5 EXON Missense_F1324L exm1309312 17 29214387 [T/C] NM_024857 ATAD5 EXON Missense_Y1419H exm1309313 17 29219667 [C/G] NM_024857 ATAD5 EXON Missense_G1434A exm1309315 17 29219708 [T/C] NM_024857 ATAD5 EXON Missense_R1448C exm1309321 17 29220376 [A/G] NM_024857 ATAD5 EXON Missense_R1502Q exm1309333 17 29220888 [A/G] NM_024857 ATAD5 EXON Missense_G1673S exm1309337 17 29221074 [A/C] NM_024857 ATAD5 EXON Missense_K1735Q exm1309339 17 29221584 [A/G] NM_024857 ATAD5 EXON Missense_N1767S exm2252935 17 29221675 [T/C] NM_024857 ATAD5 EXON Synonymous_Y1797Y exm1309342 17 29221675 [T/C] NM_024857 ATAD5 EXON Synonymous_Y1797Y exm1309347 17 29226228 [T/C] NM_024683 TEFM EXON Missense_I348V exm1309355 17 29226348 [A/T] NM_024683 TEFM EXON Missense_I308L exm1309360 17 29226507 [T/C] NM_024683 TEFM EXON Missense_A255T exm1309370 17 29227458 [T/C] NM_024683 TEFM EXON Missense_I206M exm1309374 17 29227513 [T/C] NM_024683 TEFM EXON Missense_K188R exm1880983 17 29231335 [T/C] NM_024683 TEFM EXON Missense_T82A exm1309393 17 29233211 [G/C] NM_024683 TEFM EXON Missense_S2R exm-rs3760318 17 29247715 [A/G] exm1309402 17 29250089 [A/G] NM_018404 ADAP2 Silent exm1309404 17 29253870 [A/G] NM_018404 ADAP2 EXON Missense_R84H exm1309408 17 29258929 [T/C] NM_018404 ADAP2 EXON Nonsense_R114X exm1309411 17 29261239 [A/G] NM_018404 ADAP2 EXON Missense_D145G exm1309428 17 29280349 [T/C] NM_018404 ADAP2 EXON Missense_M262T exm1309442 17 29284874 [A/G] NM_018404 ADAP2 EXON Missense_R378H exm1309449 17 29298304 [C/G] NM_032322,NM_197939,NM_001184992 RNF135,RNF135,RNF135 EXON Missense_H71Q,Missense_H71Q,Missense_H71Q exm1309464 17 29314963 [G/C] NM_032322,NM_197939,NM_001184992 RNF135,RNF135,RNF135 EXON Missense_A173G,Silent,Missense_A173G exm1309466 17 29314972 [C/G] NM_032322,NM_197939,NM_001184992 RNF135,RNF135,RNF135 EXON Missense_S176C,Silent,Missense_S176C exm1309473 17 29315049 [T/C] NM_032322,NM_197939,NM_001184992 RNF135,RNF135,RNF135 EXON Missense_H202Y,Silent,Missense_H202Y exm1309485 17 29325766 [T/C] NM_032322,NM_197939,NM_001184992 RNF135,RNF135,RNF135 EXON Missense_R286C,Silent,Silent exm1309486 17 29325767 [A/G] NM_032322,NM_197939,NM_001184992 RNF135,RNF135,RNF135 EXON Missense_R286H,Silent,Silent exm1309487 17 29325782 [A/G] NM_032322,NM_197939,NM_001184992 RNF135,RNF135,RNF135 EXON Missense_R291H,Silent,Silent exm1309496 17 29326155 [T/G] NM_032322,NM_197939,NM_001184992 RNF135,RNF135,RNF135 EXON Missense_W415C,Silent,Silent exm1309502 17 29483047 [C/G] NM_000267,NM_001042492,NM_001128147 NF1,NF1,NF1 EXON Missense_T36S,Missense_T36S,Missense_T36S exm1309510 17 29490289 [A/G] NM_000267,NM_001042492,NM_001128147 NF1,NF1,NF1 EXON Missense_R125H,Missense_R125H,Missense_R125H exm1309514 17 29496957 [T/A] NM_000267,NM_001042492,NM_001128147 NF1,NF1,NF1 EXON Missense_D176E,Missense_D176E,Missense_D176E exm1309523 17 29508805 [T/G] NM_000267,NM_001042492,NM_001128147 NF1,NF1,NF1 Silent,Silent,Silent exm1309544 17 29546083 [A/G] NM_000267,NM_001042492,NM_001128147 NF1,NF1,NF1 EXON Missense_V530I,Missense_V530I,Missense_V530I exm1881095 17 29552200 [A/G] NM_000267,NM_001042492 NF1,NF1 EXON Missense_M645V,Missense_M645V exm1309556 17 29552243 [A/G] NM_000267,NM_001042492 NF1,NF1 EXON Missense_R659Q,Missense_R659Q exm1309557 17 29552254 [A/G] NM_000267,NM_001042492 NF1,NF1 EXON Missense_G663R,Missense_G663R exm1309558 17 29552261 [T/C] NM_000267,NM_001042492 NF1,NF1 EXON Missense_S665F,Missense_S665F exm1309591 17 29557906 [A/C] NM_000267,NM_001042492 NF1,NF1 EXON Missense_N1054H,Missense_N1054H exm1309599 17 29559761 [G/C] NM_000267,NM_001042492 NF1,NF1 EXON Missense_V1120L,Missense_V1120L exm1309600 17 29559839 [A/G] NM_000267,NM_001042492 NF1,NF1 EXON Missense_V1146I,Missense_V1146I exm1309605 17 29560021 [T/C] NM_000267,NM_001042492 NF1,NF1 EXON Synonymous_G1166G,Synonymous_G1166G exm1309615 17 29562948 [A/G] NM_000267,NM_001042492 NF1,NF1 EXON Missense_T1295A,Missense_T1295A exm1309642 17 29622128 [T/C] NM_000267,NM_001042492,NM_002544 NF1,NF1,OMG EXON Silent,Silent,Missense_T408A exm1881152 17 29622668 [A/G] NM_000267,NM_001042492,NM_002544 NF1,NF1,OMG EXON Silent,Silent,Missense_S228P exm1309662 17 29623288 [T/C] NM_000267,NM_001042492,NM_002544 NF1,NF1,OMG EXON Silent,Silent,Missense_G21D exm2267997 17 29629326 [A/G] NM_000267,NM_001042492 NF1,NF1 Silent,Silent exm1309668 17 29631364 [A/G] NM_000267,NM_001042492,NM_006495 NF1,NF1,EVI2B EXON Silent,Silent,Nonsense_Q422X exm1309671 17 29631486 [T/C] NM_000267,NM_001042492,NM_006495 NF1,NF1,EVI2B EXON Silent,Silent,Missense_N381S exm1309673 17 29631550 [T/C] NM_000267,NM_001042492,NM_006495 NF1,NF1,EVI2B EXON Silent,Silent,Missense_M360V exm1309677 17 29631600 [A/G] NM_000267,NM_001042492,NM_006495 NF1,NF1,EVI2B EXON Silent,Silent,Missense_P343L exm1309678 17 29631609 [C/G] NM_000267,NM_001042492,NM_006495 NF1,NF1,EVI2B EXON Silent,Silent,Missense_P340R exm1309683 17 29631775 [C/G] NM_000267,NM_001042492,NM_006495 NF1,NF1,EVI2B EXON Silent,Silent,Missense_D285H exm1309690 17 29631870 [A/C] NM_000267,NM_001042492,NM_006495 NF1,NF1,EVI2B EXON Silent,Silent,Missense_C253F exm1309697 17 29631985 [T/C] NM_000267,NM_001042492,NM_006495 NF1,NF1,EVI2B EXON Silent,Silent,Missense_M215V exm2274918 17 29632309 [T/C] NM_000267,NM_001042492,NM_006495 NF1,NF1,EVI2B EXON Silent,Silent,Missense_K107E exm1309713 17 29632422 [T/G] NM_000267,NM_001042492,NM_006495 NF1,NF1,EVI2B EXON Silent,Silent,Missense_Q69P exm2226058 17 29632467 [A/T] NM_000267,NM_001042492,NM_006495 NF1,NF1,EVI2B EXON Silent,Silent,Missense_N54I exm1309715 17 29632471 [T/C] NM_000267,NM_001042492,NM_006495 NF1,NF1,EVI2B EXON Silent,Silent,Missense_G53R exm2226059 17 29632572 [A/C] NM_000267,NM_001042492,NM_006495 NF1,NF1,EVI2B EXON Silent,Silent,Missense_F19C exm1309727 17 29645461 [T/C] NM_000267,NM_001042492,NM_014210,NM_001003927 NF1,NF1,EVI2A,EVI2A EXON Silent,Silent,Missense_A191T,Missense_A214T exm1309728 17 29645473 [T/C] NM_000267,NM_001042492,NM_014210,NM_001003927 NF1,NF1,EVI2A,EVI2A EXON Silent,Silent,Missense_G187S,Missense_G210S exm1309730 17 29645505 [T/C] NM_000267,NM_001042492,NM_014210,NM_001003927 NF1,NF1,EVI2A,EVI2A EXON Silent,Silent,Missense_Q176R,Missense_Q199R exm1309732 17 29645538 [T/G] NM_000267,NM_001042492,NM_014210,NM_001003927 NF1,NF1,EVI2A,EVI2A EXON Silent,Silent,Missense_S165Y,Missense_S188Y exm1309736 17 29645652 [A/G] NM_000267,NM_001042492,NM_014210,NM_001003927 NF1,NF1,EVI2A,EVI2A EXON Silent,Silent,Missense_A127V,Missense_A150V exm1881177 17 29645838 [A/G] NM_000267,NM_001042492,NM_014210,NM_001003927 NF1,NF1,EVI2A,EVI2A EXON Silent,Silent,Missense_T65I,Missense_T88I exm1309747 17 29645971 [C/G] NM_000267,NM_001042492,NM_014210,NM_001003927 NF1,NF1,EVI2A,EVI2A EXON Silent,Silent,Missense_V21L,Missense_V44L exm1309748 17 29645994 [T/C] NM_000267,NM_001042492,NM_014210,NM_001003927 NF1,NF1,EVI2A,EVI2A EXON Silent,Silent,Missense_H13R,Missense_H36R exm1309766 17 29653037 [A/G] NM_000267,NM_001042492 NF1,NF1 EXON Missense_I1658V,Missense_I1679V exm1309805 17 29663677 [A/G] NM_000267,NM_001042492 NF1,NF1 EXON Missense_I2037V,Missense_I2058V exm1881196 17 29663884 [A/G] NM_000267,NM_001042492 NF1,NF1 EXON Missense_I2106V,Missense_I2127V exm1309857 17 29679348 [C/G] NM_000267,NM_001042492 NF1,NF1 EXON Missense_V2490L,Missense_V2511L exm1309861 17 29679412 [T/C] NM_000267,NM_001042492 NF1,NF1 EXON Missense_A2511V,Missense_A2532V exm1309874 17 29685568 [A/G] NM_000267,NM_001042492 NF1,NF1 EXON Missense_I2660V,Missense_I2681V exm1309875 17 29685632 [A/T] NM_000267,NM_001042492 NF1,NF1 EXON Missense_Y2681F,Missense_Y2702F exm2268040 17 29744499 [A/G] NM_032932 RAB11FIP4 Silent exm1309901 17 29761093 [A/G] NM_032932 RAB11FIP4 EXON Missense_A97T exm1309902 17 29761094 [T/C] NM_032932 RAB11FIP4 EXON Missense_A97V exm1309908 17 29844699 [T/G] NM_032932 RAB11FIP4 EXON Missense_D123Y exm1309910 17 29844760 [T/C] NM_032932 RAB11FIP4 EXON Missense_T143M exm2226066 17 29849401 [T/C] NM_032932 RAB11FIP4 EXON Missense_T306M exm1309943 17 29850963 [A/G] NM_032932 RAB11FIP4 EXON Missense_N361S exm1309952 17 29854861 [T/G] NM_032932 RAB11FIP4 EXON Missense_V426L exm1309960 17 29855540 [T/G] NM_032932 RAB11FIP4 EXON Missense_K491N exm2276494 17 29855644 [A/G] NM_032932 RAB11FIP4 EXON Missense_E501K exm2264626 17 30011493 [A/C] exm1310024 17 30183819 [T/G] NM_018405 COPRS EXON Synonymous_L55L exm1310025 17 30183826 [T/G] NM_018405 COPRS EXON Missense_D53A exm1310042 17 30195117 [T/C] NM_018428 UTP6 EXON Missense_R504Q exm1310055 17 30207624 [A/G] NM_018428 UTP6 EXON Missense_V312A exm1310062 17 30211497 [A/G] NM_018428 UTP6 EXON Missense_S244L exm1310065 17 30213044 [T/C] NM_018428 UTP6 EXON Missense_E220K exm1310067 17 30214285 [G/C] NM_018428 UTP6 EXON Missense_K197N exm1310068 17 30214286 [T/G] NM_018428 UTP6 EXON Missense_K197T exm1310070 17 30214331 [T/A] NM_018428 UTP6 EXON Missense_Y182F exm1310073 17 30216339 [A/G] NM_018428 UTP6 EXON Missense_R170C exm1310076 17 30216366 [T/C] NM_018428 UTP6 EXON Missense_A161T exm1310077 17 30216384 [G/C] NM_018428 UTP6 EXON Missense_R155G exm1310081 17 30216416 [T/C] NM_018428 UTP6 EXON Nonsense_W144X exm1310083 17 30219279 [A/C] NM_018428 UTP6 EXON Missense_A142S exm1310085 17 30219303 [A/C] NM_018428 UTP6 EXON Missense_L134V exm1310086 17 30219329 [T/C] NM_018428 UTP6 EXON Missense_R125Q exm1310094 17 30222002 [T/C] NM_018428 UTP6 EXON Missense_Q69R exm1881348 17 30226697 [T/G] NM_018428 UTP6 EXON Missense_L49I exm1310098 17 30226738 [T/C] NM_018428 UTP6 EXON Missense_K35R exm1310112 17 30264461 [A/G] NM_015355 SUZ12 EXON Missense_A66T exm1310149 17 30320292 [A/C] NM_015355 SUZ12 EXON Missense_Q411H exm1310175 17 30325838 [T/C] NM_015355 SUZ12 EXON Missense_T679I exm1310181 17 30325979 [A/G] NM_015355 SUZ12 EXON Missense_S726N exm1310186 17 30348167 [T/C] NM_052888 LRRC37B EXON Missense_M1T exm1310192 17 30348266 [T/C] NM_052888 LRRC37B EXON Missense_P34L exm1310202 17 30348377 [T/A] NM_052888 LRRC37B EXON Missense_D71V exm1310208 17 30348538 [T/C] NM_052888 LRRC37B EXON Missense_R125W exm1310211 17 30348581 [A/G] NM_052888 LRRC37B EXON Missense_N139S exm1310223 17 30348768 [A/C] NM_052888 LRRC37B EXON Missense_S201R exm1310237 17 30349184 [A/G] NM_052888 LRRC37B EXON Missense_K340R exm1310244 17 30349325 [T/C] NM_052888 LRRC37B EXON Missense_T387I exm1881405 17 30349435 [A/G] NM_052888 LRRC37B EXON Missense_S424G exm1310287 17 30361957 [A/G] NM_052888 LRRC37B EXON Missense_V669I exm1310288 17 30361960 [A/G] NM_052888 LRRC37B EXON Missense_E670K exm1310297 17 30372807 [A/T] NM_052888 LRRC37B EXON Missense_T738S exm1310352 17 30521023 [T/A] NM_001033566,NM_018307,NM_001033568 RHOT1,RHOT1,RHOT1 EXON Missense_T256S,Missense_T256S,Missense_T256S exm1310371 17 30533984 [T/C] NM_001033566,NM_018307,NM_001033568 RHOT1,RHOT1,RHOT1 EXON Missense_V491A,Missense_V491A,Missense_V491A exm1310377 17 30535204 [A/G] NM_001033566,NM_018307,NM_001033568 RHOT1,RHOT1,RHOT1 EXON Missense_S539G,Missense_S539G,Missense_S539G exm1310381 17 30536391 [T/C] NM_001033566,NM_018307,NM_001033568 RHOT1,RHOT1,RHOT1 EXON Silent,Silent,Missense_L588F exm1310388 17 30551679 [A/G] NM_001033566,NM_018307,NM_001033568 RHOT1,RHOT1,RHOT1 EXON Missense_R636Q,Missense_R595Q,Missense_R668Q exm2272584 17 30592205 [T/G] exm2267998 17 30612520 [A/G] NM_138328 RHBDL3 Silent exm1310407 17 30615884 [T/C] NM_138328 RHBDL3 EXON Missense_L123P exm1310429 17 30625205 [A/G] NM_138328 RHBDL3 EXON Missense_V255M exm1310440 17 30648244 [G/C] NM_138328 RHBDL3 EXON Missense_P404R exm1310465 17 30668259 [T/C] NM_022344 C17orf75 EXON Missense_G62D exm1310469 17 30669055 [G/C] NM_022344 C17orf75 EXON Missense_S35T exm1310493 17 30687707 [A/C] NM_001032293,NM_001098507,NM_003457 ZNF207,ZNF207,ZNF207 EXON Missense_Q133P,Missense_Q133P,Missense_Q133P exm1310509 17 30692396 [T/G] NM_001032293,NM_001098507,NM_003457 ZNF207,ZNF207,ZNF207 EXON Missense_A240S,Missense_A240S,Missense_A224S exm1310512 17 30692420 [A/G] NM_001032293,NM_001098507,NM_003457 ZNF207,ZNF207,ZNF207 EXON Missense_I248V,Missense_I248V,Missense_I232V exm1310515 17 30693724 [A/G] NM_001032293,NM_001098507,NM_003457 ZNF207,ZNF207,ZNF207 EXON Silent,Missense_N290S,Missense_N274S exm1310522 17 30694897 [A/T] NM_001032293,NM_001098507,NM_003457 ZNF207,ZNF207,ZNF207 EXON Missense_Q312L,Missense_Q343L,Missense_Q327L exm1310566 17 30796210 [A/G] NM_002815,NM_001270482 PSMD11,PSMD11 EXON Synonymous_S214S,Synonymous_S214S exm1310571 17 30801826 [A/G] NM_002815,NM_001270482 PSMD11,PSMD11 EXON Missense_R278Q,Missense_R278Q exm1310589 17 30807649 [A/G] NM_002815,NM_001270482 PSMD11,PSMD11 EXON Synonymous_X423X,Synonymous_X423X exm1310600 17 30814868 [A/C] NM_003885 CDK5R1 EXON Missense_N77T exm1310609 17 30815405 [T/C] NM_003885 CDK5R1 EXON Missense_A256V exm1310616 17 30821812 [A/G] NM_015194 MYO1D EXON Missense_R996C exm1310618 17 30821827 [T/C] NM_015194 MYO1D EXON Missense_D991N exm1310619 17 30821833 [C/G] NM_015194 MYO1D EXON Missense_Q989E exm-rs225190 17 30877658 [T/C] NM_015194 MYO1D Silent exm2267999 17 30960537 [A/G] NM_015194 MYO1D Silent exm1310633 17 30980871 [T/A] NM_015194 MYO1D EXON Missense_H862L exm1310641 17 30981593 [A/G] NM_015194 MYO1D EXON Missense_P798S exm1310643 17 30986166 [T/C] NM_015194 MYO1D EXON Missense_R771H exm1310644 17 30986185 [A/G] NM_015194 MYO1D EXON Missense_P765S exm1310656 17 31039007 [T/C] NM_015194 MYO1D EXON Missense_K707R exm2274920 17 31039199 [A/G] NM_015194 MYO1D EXON Missense_S643F exm1310666 17 31048057 [T/C] NM_015194 MYO1D EXON Missense_E633K exm1881597 17 31075961 [T/C] NM_015194 MYO1D EXON Missense_D511N exm1310689 17 31082572 [T/C] NM_015194 MYO1D EXON Missense_E469K exm1310712 17 31094688 [G/C] NM_015194 MYO1D EXON Missense_T266R exm1310716 17 31094760 [T/C] NM_015194 MYO1D EXON Missense_N242S exm1310722 17 31099821 [A/G] NM_015194 MYO1D EXON Missense_H202Y exm1310739 17 31107783 [A/G] NM_015194 MYO1D EXON Missense_Y39H exm1310744 17 31203827 [T/C] NM_015194 MYO1D EXON Missense_M22V exm1310760 17 31260307 [T/C] NM_015544,NM_001033504 TMEM98,TMEM98 EXON Missense_W83R,Missense_W83R exm1310774 17 31263453 [A/G] NM_015544,NM_001033504 TMEM98,TMEM98 EXON Missense_R134Q,Missense_R134Q exm1310778 17 31266513 [T/G] NM_015544,NM_001033504 TMEM98,TMEM98 EXON Missense_K144N,Missense_K144N exm1310785 17 31267869 [T/C] NM_015544,NM_001033504 TMEM98,TMEM98 EXON Missense_T180M,Missense_T180M exm1310795 17 31318972 [T/C] NM_173847 SPACA3 EXON Missense_R6W exm1310799 17 31322427 [A/G] NM_173847 SPACA3 EXON Missense_R12K exm1310803 17 31322586 [A/G] NM_173847 SPACA3 EXON Missense_C65Y exm1310807 17 31322631 [A/G] NM_173847 SPACA3 EXON Missense_C80Y exm1310808 17 31322651 [A/G] NM_173847 SPACA3 EXON Missense_A87T exm1310811 17 31322691 [A/G] NM_173847 SPACA3 EXON Missense_H100R exm1881660 17 31322699 [A/G] NM_173847 SPACA3 EXON Missense_G103R exm1310818 17 31323899 [A/G] NM_173847 SPACA3 EXON Missense_A128T exm1310821 17 31323962 [T/A] NM_173847 SPACA3 EXON Missense_R149W exm1310822 17 31323984 [T/C] NM_173847 SPACA3 EXON Missense_P156L exm1881665 17 31323996 [A/G] NM_173847 SPACA3 EXON Missense_N160S exm1310828 17 31324490 [A/C] NM_173847 SPACA3 EXON Missense_T177N exm1310830 17 31324504 [A/G] NM_173847 SPACA3 EXON Missense_M182V exm2252941 17 31324515 [A/C] NM_173847 SPACA3 EXON Synonymous_T185T exm1310833 17 31324523 [T/C] NM_173847 SPACA3 EXON Missense_P188L exm1310837 17 31324760 [A/T] NM_173847 SPACA3 EXON Missense_K204N exm1310839 17 31324782 [A/G] NM_173847 SPACA3 EXON Missense_G212S exm2260644 17 31336980 [A/C] exm1310859 17 31350878 [T/C] NM_001094,NM_183377 ASIC2,ASIC2 Silent,Silent exm1310862 17 31351014 [T/C] NM_001094,NM_183377 ASIC2,ASIC2 EXON Missense_D354G,Missense_D405G exm1310864 17 31351024 [T/C] NM_001094,NM_183377 ASIC2,ASIC2 EXON Missense_A351T,Missense_A402T exm1310867 17 31355299 [T/C] NM_001094,NM_183377 ASIC2,ASIC2 EXON Missense_I316V,Missense_I367V exm1310873 17 31355376 [T/C] NM_001094,NM_183377 ASIC2,ASIC2 EXON Missense_R290Q,Missense_R341Q exm2268000 17 31579872 [A/G] NM_001094,NM_183377 ASIC2,ASIC2 Silent,Silent exm1310890 17 31618510 [T/C] NM_001094,NM_183377 ASIC2,ASIC2 EXON Silent,Missense_M208I exm2252942 17 31908308 [T/C] NM_001094 ASIC2 Silent exm-rs11650066 17 32287449 [A/G] NM_001094 ASIC2 Silent exm2264643 17 32454246 [A/C] NM_001094 ASIC2 Silent exm1310906 17 32482997 [T/C] NM_001094 ASIC2 EXON Synonymous_T185T exm1310917 17 32483307 [T/G] NM_001094 ASIC2 EXON Missense_Q82P exm1310937 17 32583836 [T/C] NM_002982 CCL2 EXON Missense_P97L exm-rs3091315 17 32593665 [A/G] exm1310941 17 32597349 [A/G] NM_006273 CCL7 EXON Missense_A14T exm1310951 17 32598263 [T/C] NM_006273 CCL7 EXON Missense_C59R exm1310953 17 32598270 [A/G] NM_006273 CCL7 EXON Missense_R61Q exm1310955 17 32598740 [T/G] NM_006273 CCL7 EXON Missense_E73D exm-rs3091326 17 32601183 [A/G] exm1310967 17 32614132 [T/A] NM_002986 CCL11 EXON Missense_C32S exm1310969 17 32614186 [A/G] NM_002986 CCL11 EXON Missense_R50G exm1310973 17 32614621 [A/C] NM_002986 CCL11 EXON Missense_A69D exm1310980 17 32614672 [A/C] NM_002986 CCL11 EXON Missense_K86T exm2252944 17 32646547 [T/C] NM_005623 CCL8 EXON Synonymous_C9C exm1310989 17 32646561 [T/C] NM_005623 CCL8 EXON Missense_A14V exm1310997 17 32647357 [T/A] NM_005623 CCL8 EXON Missense_E49V exm1310999 17 32647386 [T/C] NM_005623 CCL8 EXON Missense_C59R exm1311010 17 32647891 [A/C] NM_005623 CCL8 EXON Missense_H89N exm1311016 17 32683558 [T/G] NM_005408 CCL13 EXON Missense_A5S exm1311020 17 32683584 [A/G] NM_005408 CCL13 EXON Missense_M13I exm1311029 17 32685092 [A/T] NM_005408 CCL13 EXON Missense_K80M exm2226099 17 32688804 [A/C] NM_002981 CCL1 EXON Missense_I63R exm1311040 17 32688826 [T/C] NM_002981 CCL1 EXON Missense_I56V exm1311042 17 32688864 [A/G] NM_002981 CCL1 EXON Missense_P43L exm2272585 17 32730550 [T/C] exm1311048 17 32904586 [T/C] NM_207454 C17orf102 EXON Missense_R155K exm1311052 17 32905987 [T/G] NM_207454 C17orf102 EXON Missense_R105S exm1311056 17 32906038 [G/C] NM_207454 C17orf102 EXON Missense_R88G exm1311058 17 32906077 [T/G] NM_207454 C17orf102 EXON Missense_T75P exm1311063 17 32906187 [A/G] NM_207454 C17orf102 EXON Missense_A38V exm1311069 17 32906257 [A/G] NM_207454 C17orf102 EXON Nonsense_R15X exm1311085 17 32953316 [A/G] NM_207313 TMEM132E EXON Missense_V80M exm1311087 17 32953335 [A/C] NM_207313 TMEM132E EXON Missense_E86A exm1311099 17 32954040 [T/C] NM_207313 TMEM132E EXON Missense_S231L exm1311103 17 32955650 [T/C] NM_207313 TMEM132E EXON Missense_S266L exm1311109 17 32956086 [A/C] NM_207313 TMEM132E EXON Missense_T311P exm1311123 17 32957114 [A/G] NM_207313 TMEM132E EXON Missense_V386I exm1311129 17 32959880 [A/G] NM_207313 TMEM132E EXON Missense_R457H exm1311130 17 32959924 [T/C] NM_207313 TMEM132E EXON Missense_R472W exm1311154 17 32962050 [T/C] NM_207313 TMEM132E EXON Missense_H551Y exm1311155 17 32962064 [A/C] NM_207313 TMEM132E EXON Missense_S555R exm1311163 17 32963051 [T/C] NM_207313 TMEM132E EXON Missense_V578A exm1311170 17 32964326 [A/G] NM_207313 TMEM132E EXON Missense_R677Q exm2272509 17 32982929 [T/C] exm1311208 17 33255068 [A/C] NM_001193529,NM_001193530,NM_006584 CCT6B,CCT6B,CCT6B EXON Missense_X494L,Missense_X486L,Missense_X531L exm2252947 17 33258011 [T/C] NM_001193529,NM_001193530,NM_006584 CCT6B,CCT6B,CCT6B EXON Synonymous_E432E,Synonymous_E424E,Synonymous_E469E exm1311217 17 33259435 [T/G] NM_001193529,NM_001193530,NM_006584 CCT6B,CCT6B,CCT6B EXON Missense_A396D,Missense_A388D,Missense_A433D exm1311235 17 33269517 [T/C] NM_001193529,NM_001193530,NM_006584 CCT6B,CCT6B,CCT6B EXON Missense_V254I,Missense_V246I,Missense_V291I exm1311239 17 33269648 [C/G] NM_001193529,NM_001193530,NM_006584 CCT6B,CCT6B,CCT6B EXON Missense_G210A,Missense_G202A,Missense_G247A exm1311242 17 33269837 [T/C] NM_001193529,NM_001193530,NM_006584 CCT6B,CCT6B,CCT6B EXON Silent,Missense_V190I,Missense_V235I exm1311253 17 33269927 [T/C] NM_001193529,NM_001193530,NM_006584 CCT6B,CCT6B,CCT6B Silent,Silent,Silent exm1311271 17 33286628 [T/C] NM_001193529,NM_001193530,NM_006584 CCT6B,CCT6B,CCT6B EXON Missense_G60D,Missense_G60D,Missense_G60D exm1311274 17 33288363 [T/C] NM_001193529,NM_001193530,NM_006584 CCT6B,CCT6B,CCT6B EXON Missense_R17Q,Missense_R17Q,Missense_R17Q exm1311283 17 33288637 [A/C] NM_052857 ZNF830 EXON Missense_Q18K exm1311291 17 33288882 [T/G] NM_052857 ZNF830 EXON Missense_H99Q exm1311294 17 33288936 [A/G] NM_052857 ZNF830 EXON Synonymous_K117K exm2252948 17 33288936 [A/G] NM_052857 ZNF830 EXON Synonymous_K117K exm1311297 17 33289027 [A/G] NM_052857 ZNF830 EXON Missense_S148G exm1311298 17 33289046 [G/C] NM_052857 ZNF830 EXON Missense_S154T exm1311300 17 33289090 [A/G] NM_052857 ZNF830 EXON Missense_E169K exm1311307 17 33289204 [A/G] NM_052857 ZNF830 EXON Missense_N207D exm1311316 17 33289458 [A/G] NM_052857 ZNF830 EXON Missense_I291M exm1311318 17 33289585 [A/G] NM_052857 ZNF830 EXON Missense_E334K exm1311328 17 33310119 [T/G] NM_013975,NM_002311 LIG3,LIG3 EXON Missense_V32G,Missense_V32G exm1311355 17 33313129 [T/C] NM_013975,NM_002311 LIG3,LIG3 EXON Missense_R224W,Missense_R224W exm1311365 17 33316665 [A/G] NM_013975,NM_002311 LIG3,LIG3 EXON Missense_R291Q,Missense_R291Q exm1311372 17 33318071 [C/G] NM_013975,NM_002311 LIG3,LIG3 EXON Missense_V327L,Missense_V327L exm1311380 17 33318795 [T/C] NM_013975,NM_002311 LIG3,LIG3 EXON Missense_R383W,Missense_R383W exm1311388 17 33321313 [A/G] NM_013975,NM_002311 LIG3,LIG3 EXON Missense_V492I,Missense_V492I exm-rs2074518 17 33324382 [T/C] NM_013975,NM_002311 LIG3,LIG3 Silent,Silent exm1311412 17 33326846 [T/C] NM_013975,NM_002311 LIG3,LIG3 EXON Missense_Y768H,Missense_Y768H exm1311434 17 33329109 [T/C] NM_013975,NM_002311 LIG3,LIG3 EXON Missense_S887F,Missense_S887F exm1881958 17 33331320 [A/G] NM_013975 LIG3 EXON Missense_R942Q exm1311448 17 33331356 [A/G] NM_013975 LIG3 EXON Missense_R954H exm2226112 17 33331451 [T/C] NM_013975 LIG3 EXON Missense_P986S exm1311459 17 33331497 [A/G] NM_013975 LIG3 EXON Missense_R1001Q exm1311460 17 33331503 [A/G] NM_013975 LIG3 EXON Missense_R1003Q exm1311479 17 33344576 [T/C] NR_037713,NM_001017368,NR_037714 RFFL,RFFL,RAD51L3-RFFL EXON Silent,Missense_S214N,Silent exm1311482 17 33344621 [T/C] NR_037713,NM_001017368,NR_037714 RFFL,RFFL,RAD51L3-RFFL EXON Silent,Missense_N199S,Silent exm1311483 17 33348415 [T/G] NR_037713,NM_001017368,NR_037714 RFFL,RFFL,RAD51L3-RFFL EXON Silent,Missense_P189Q,Silent exm1311491 17 33348610 [T/C] NR_037713,NM_001017368,NR_037714 RFFL,RFFL,RAD51L3-RFFL EXON Silent,Missense_R124Q,Silent exm1311498 17 33348774 [T/A] NR_037713,NM_001017368,NR_037714 RFFL,RFFL,RAD51L3-RFFL EXON Silent,Missense_N69K,Silent exm1311510 17 33427976 [A/G] NR_037714,NM_001142571,NM_002878,NR_037711,NM_133629,NR_037712 RAD51L3-RFFL,RAD51D,RAD51D,RAD51D,RAD51D,RAD51D EXON Silent,Missense_T348I,Missense_T328I,Silent,Missense_T216I,Silent exm1311513 17 33428027 [T/A] NR_037714,NM_001142571,NM_002878,NR_037711,NM_133629,NR_037712 RAD51L3-RFFL,RAD51D,RAD51D,RAD51D,RAD51D,RAD51D EXON Silent,Missense_I331N,Missense_I311N,Silent,Missense_I199N,Silent exm1311514 17 33428040 [T/C] NR_037714,NM_001142571,NM_002878,NR_037711,NM_133629,NR_037712 RAD51L3-RFFL,RAD51D,RAD51D,RAD51D,RAD51D,RAD51D EXON Silent,Missense_E327K,Missense_E307K,Silent,Missense_E195K,Silent exm1311531 17 33430313 [T/C] NR_037714,NM_001142571,NM_002878,NR_037711,NM_133629,NR_037712 RAD51L3-RFFL,RAD51D,RAD51D,RAD51D,RAD51D,RAD51D EXON Silent,Missense_E253G,Missense_E233G,Silent,Missense_E121G,Silent exm1311532 17 33430316 [T/C] NR_037714,NM_001142571,NM_002878,NR_037711,NM_133629,NR_037712 RAD51L3-RFFL,RAD51D,RAD51D,RAD51D,RAD51D,RAD51D EXON Silent,Missense_R252Q,Missense_R232Q,Silent,Missense_R120Q,Silent exm1311539 17 33433413 [T/C] NR_037714,NM_001142571,NM_002878,NR_037711,NM_133629,NR_037712 RAD51L3-RFFL,RAD51D,RAD51D,RAD51D,RAD51D,RAD51D EXON Silent,Missense_A210T,Missense_A190T,Silent,Missense_A78T,Silent exm1311542 17 33433487 [T/C] NR_037714,NM_001142571,NM_002878,NR_037711,NM_133629,NR_037712 RAD51L3-RFFL,RAD51D,RAD51D,RAD51D,RAD51D,RAD51D EXON Silent,Missense_R185Q,Missense_R165Q,Silent,Missense_R53Q,Silent exm2252949 17 33433820 [A/G] NR_037714,NM_001142571,NM_002878,NR_037711,NM_133629,NR_037712 RAD51L3-RFFL,RAD51D,RAD51D,RAD51D,RAD51D,RAD51D Silent,Silent,Silent,Silent,Silent,Silent exm1311548 17 33434093 [T/C] NR_037714,NM_001142571,NM_002878,NR_037711,NM_133629,NR_037712 RAD51L3-RFFL,RAD51D,RAD51D,RAD51D,RAD51D,RAD51D EXON Silent,Missense_V152I,Missense_V132I,Silent,Silent,Silent exm1311555 17 33443879 [A/G] NR_037714,NM_001142571,NM_002878,NR_037711,NM_133629,NR_037712 RAD51L3-RFFL,RAD51D,RAD51D,RAD51D,RAD51D,RAD51D EXON Silent,Missense_R108C,Silent,Silent,Silent,Silent exm1311557 17 33443915 [T/C] NR_037714,NM_001142571,NM_002878,NR_037711,NM_133629,NR_037712 RAD51L3-RFFL,RAD51D,RAD51D,RAD51D,RAD51D,RAD51D EXON Silent,Missense_A96T,Silent,Silent,Silent,Silent exm1311558 17 33443932 [T/C] NR_037714,NM_001142571,NM_002878,NR_037711,NM_133629,NR_037712 RAD51L3-RFFL,RAD51D,RAD51D,RAD51D,RAD51D,RAD51D EXON Silent,Missense_D90G,Silent,Silent,Silent,Silent exm1311562 17 33444011 [A/G] NR_037714,NM_001142571,NM_002878,NR_037711,NM_133629,NR_037712 RAD51L3-RFFL,RAD51D,RAD51D,RAD51D,RAD51D,RAD51D EXON Silent,Missense_P64S,Silent,Silent,Silent,Silent exm1882005 17 33444046 [A/G] NR_037714,NM_001142571,NM_002878,NR_037711,NM_133629,NR_037712 RAD51L3-RFFL,RAD51D,RAD51D,RAD51D,RAD51D,RAD51D EXON Silent,Missense_A52V,Silent,Silent,Silent,Silent exm2274923 17 33445587 [T/C] NR_037714,NM_001142571,NM_002878,NR_037711,NM_133629,NR_037712 RAD51L3-RFFL,RAD51D,RAD51D,RAD51D,RAD51D,RAD51D EXON Silent,Silent,Missense_V66M,Silent,Silent,Silent exm1311572 17 33445637 [A/G] NR_037714,NM_001142571,NM_002878,NR_037711,NM_133629,NR_037712 RAD51L3-RFFL,RAD51D,RAD51D,RAD51D,RAD51D,RAD51D EXON Silent,Silent,Missense_A49V,Silent,Silent,Silent exm1311581 17 33446607 [G/C] NR_037714,NM_001142571,NM_002878,NR_037711,NM_133629,NR_037712 RAD51L3-RFFL,RAD51D,RAD51D,RAD51D,RAD51D,RAD51D EXON Silent,Missense_C9S,Missense_C9S,Silent,Missense_C9S,Silent exm1311585 17 33448777 [T/G] NM_017559 FNDC8 EXON Missense_F22C exm1311589 17 33448818 [T/C] NM_017559 FNDC8 EXON Missense_S36P exm1311590 17 33448833 [A/G] NM_017559 FNDC8 EXON Missense_M41V exm1311599 17 33454155 [A/G] NM_017559 FNDC8 EXON Missense_V102M exm1311602 17 33454198 [T/G] NM_017559 FNDC8 EXON Missense_G116V exm1311604 17 33454227 [A/G] NM_017559 FNDC8 EXON Missense_M126V exm1311605 17 33454230 [A/G] NM_017559 FNDC8 EXON Missense_A127T exm1311609 17 33454258 [T/C] NM_017559 FNDC8 EXON Missense_A136V exm1311627 17 33456547 [A/G] NM_017559 FNDC8 EXON Missense_R231H exm1311630 17 33456631 [A/G] NM_017559 FNDC8 EXON Missense_R259H exm1311632 17 33456679 [T/C] NM_017559 FNDC8 Silent exm1882037 17 33457380 [A/G] NM_017559 FNDC8 EXON Missense_R301Q exm2252950 17 33457399 [T/C] NM_017559 FNDC8 EXON Synonymous_I307I exm1311656 17 33460431 [T/C] NM_001014445,NM_018096 NLE1,NLE1 EXON Missense_S142N,Missense_S434N exm1311663 17 33460516 [A/G] NM_001014445,NM_018096 NLE1,NLE1 EXON Missense_Y114H,Missense_Y406H exm1311673 17 33462386 [T/A] NM_001014445,NM_018096 NLE1,NLE1 EXON Missense_T74S,Missense_T366S exm1311677 17 33462424 [A/G] NM_001014445,NM_018096 NLE1,NLE1 EXON Missense_L61S,Missense_L353S exm1311680 17 33462448 [A/C] NM_001014445,NM_018096 NLE1,NLE1 EXON Missense_V53G,Missense_V345G exm1311687 17 33463390 [T/G] NM_001014445,NM_018096 NLE1,NLE1 EXON Missense_Q27K,Missense_Q319K exm1311691 17 33463462 [A/G] NM_001014445,NM_018096 NLE1,NLE1 EXON Missense_L3F,Missense_L295F exm1311694 17 33464020 [A/G] NM_001014445,NM_018096 NLE1,NLE1 EXON Silent,Synonymous_D276D exm1311699 17 33464199 [T/G] NM_001014445,NM_018096 NLE1,NLE1 EXON Silent,Missense_R217S exm1882072 17 33464838 [T/C] NM_001014445,NM_018096 NLE1,NLE1 EXON Silent,Missense_G178S exm1311709 17 33464864 [T/C] NM_001014445,NM_018096 NLE1,NLE1 EXON Silent,Missense_R169K exm1311715 17 33466868 [T/C] NM_001014445,NM_018096 NLE1,NLE1 EXON Silent,Missense_K127R exm1311716 17 33466874 [A/G] NM_001014445,NM_018096 NLE1,NLE1 EXON Silent,Missense_T125M exm1311721 17 33467052 [T/C] NM_001014445,NM_018096 NLE1,NLE1 EXON Silent,Missense_D66N exm1311727 17 33469114 [A/G] NM_001014445,NM_018096 NLE1,NLE1 EXON Silent,Missense_R16W exm1311735 17 33475281 [A/G] NM_173167,NM_001267052,NM_001033576 UNC45B,UNC45B,UNC45B EXON Silent,Silent,Silent exm1311745 17 33476001 [A/G] NM_173167,NM_001267052,NM_001033576 UNC45B,UNC45B,UNC45B EXON Missense_V60I,Missense_V60I,Missense_V60I exm1311755 17 33477159 [A/G] NM_173167,NM_001267052,NM_001033576 UNC45B,UNC45B,UNC45B EXON Missense_V100M,Missense_V100M,Missense_V100M exm1311775 17 33481639 [A/G] NM_173167,NM_001267052,NM_001033576 UNC45B,UNC45B,UNC45B EXON Missense_E173G,Missense_E173G,Missense_E173G exm1311784 17 33482393 [A/G] NM_173167,NM_001267052,NM_001033576 UNC45B,UNC45B,UNC45B EXON Missense_A240T,Missense_A240T,Missense_A240T exm1882105 17 33482448 [A/G] NM_173167,NM_001267052,NM_001033576 UNC45B,UNC45B,UNC45B EXON Missense_R258Q,Missense_R258Q,Missense_R258Q exm1311805 17 33491133 [T/C] NM_173167,NM_001267052,NM_001033576 UNC45B,UNC45B,UNC45B EXON Missense_R367C,Missense_R367C,Missense_R367C exm1311810 17 33491156 [G/C] NM_173167,NM_001267052,NM_001033576 UNC45B,UNC45B,UNC45B EXON Missense_H374Q,Missense_H374Q,Missense_H374Q exm1882115 17 33491181 [A/G] NM_173167,NM_001267052,NM_001033576 UNC45B,UNC45B,UNC45B EXON Missense_I383V,Missense_I383V,Missense_I383V exm1311816 17 33495111 [A/G] NM_173167,NM_001267052,NM_001033576 UNC45B,UNC45B,UNC45B EXON Missense_N395D,Missense_N395D,Missense_N395D exm1311831 17 33495379 [T/C] NM_173167,NM_001267052,NM_001033576 UNC45B,UNC45B,UNC45B EXON Missense_V484A,Missense_V484A,Missense_V484A exm1311840 17 33497222 [A/T] NM_173167,NM_001267052,NM_001033576 UNC45B,UNC45B,UNC45B EXON Missense_D546V,Missense_D546V,Missense_D546V exm1311842 17 33497237 [A/G] NM_173167,NM_001267052,NM_001033576 UNC45B,UNC45B,UNC45B EXON Missense_D551G,Missense_D551G,Missense_D551G exm1882135 17 33501295 [A/G] NM_173167,NM_001267052,NM_001033576 UNC45B,UNC45B,UNC45B EXON Missense_R624Q,Missense_R622Q,Missense_R622Q exm1311871 17 33504126 [T/G] NM_173167,NM_001267052,NM_001033576 UNC45B,UNC45B,UNC45B EXON Missense_D708Y,Missense_D706Y,Missense_D706Y exm1311873 17 33504148 [A/G] NM_173167,NM_001267052,NM_001033576 UNC45B,UNC45B,UNC45B EXON Missense_R715Q,Missense_R713Q,Missense_R713Q exm1311878 17 33504563 [A/C] NM_173167,NM_001267052,NM_001033576 UNC45B,UNC45B,UNC45B EXON Missense_D732A,Missense_D730A,Missense_D730A exm1311881 17 33504629 [A/G] NM_173167,NM_001267052,NM_001033576 UNC45B,UNC45B,UNC45B EXON Missense_R754Q,Missense_R752Q,Missense_R752Q exm1311887 17 33507648 [T/C] NM_173167,NM_001267052,NM_001033576 UNC45B,UNC45B,UNC45B EXON Missense_R778W,Missense_R776W,Missense_R776W exm1311888 17 33507649 [A/G] NM_173167,NM_001267052,NM_001033576 UNC45B,UNC45B,UNC45B EXON Missense_R778Q,Missense_R776Q,Missense_R776Q exm1311890 17 33507673 [A/G] NM_173167,NM_001267052,NM_001033576 UNC45B,UNC45B,UNC45B EXON Missense_C786Y,Missense_C784Y,Missense_C784Y exm1882153 17 33510470 [C/G] NM_173167,NM_001267052,NM_001033576 UNC45B,UNC45B,UNC45B EXON Missense_G802R,Missense_G800R,Missense_G800R exm1311907 17 33513429 [A/G] NM_173167,NM_001267052,NM_001033576 UNC45B,UNC45B,UNC45B EXON Missense_A883T,Missense_A881T,Missense_A881T exm1311957 17 33521025 [T/C] NM_152462 SLC35G3 EXON Missense_R101Q exm1311960 17 33521047 [C/G] NM_152462 SLC35G3 EXON Missense_L94V exm1311962 17 33521101 [A/G] NM_152462 SLC35G3 EXON Nonsense_R76X exm1312004 17 33585712 [A/G] NM_144975 SLFN5 EXON Missense_M1I exm1312010 17 33585810 [A/G] NM_144975 SLFN5 EXON Missense_R34H exm2276496 17 33585816 [A/G] NM_144975 SLFN5 EXON Missense_R36Q exm1312014 17 33585885 [A/G] NM_144975 SLFN5 EXON Missense_K59R exm1312027 17 33586128 [A/G] NM_144975 SLFN5 EXON Missense_R140K exm1312028 17 33586143 [T/C] NM_144975 SLFN5 EXON Missense_T145M exm1312032 17 33586247 [T/C] NM_144975 SLFN5 EXON Missense_R180W exm1312039 17 33586329 [T/G] NM_144975 SLFN5 EXON Missense_C207F exm1312052 17 33586538 [A/G] NM_144975 SLFN5 EXON Missense_V277I exm1312058 17 33586620 [T/C] NM_144975 SLFN5 EXON Missense_A304V exm1312083 17 33591403 [A/G] NM_144975 SLFN5 EXON Missense_N447S exm1312085 17 33591443 [A/T] NM_144975 SLFN5 EXON Missense_D460E exm1312091 17 33591546 [T/C] NM_144975 SLFN5 EXON Missense_C495R exm1312101 17 33591769 [A/G] NM_144975 SLFN5 EXON Missense_R569H exm1312119 17 33592338 [T/C] NM_144975 SLFN5 EXON Missense_Y703H exm1312128 17 33592552 [T/C] NM_144975 SLFN5 EXON Missense_A774V exm1312130 17 33592591 [T/C] NM_144975 SLFN5 EXON Missense_P787L exm1312131 17 33592621 [T/C] NM_144975 SLFN5 EXON Missense_A797V exm1312147 17 33679518 [A/G] NM_001104588,NM_001104587,NM_001104590,NM_152270,NM_001104589 SLFN11,SLFN11,SLFN11,SLFN11,SLFN11 EXON Missense_R855W,Missense_R855W,Missense_R855W,Missense_R855W,Missense_R855W exm1312151 17 33679616 [T/C] NM_001104588,NM_001104587,NM_001104590,NM_152270,NM_001104589 SLFN11,SLFN11,SLFN11,SLFN11,SLFN11 EXON Missense_Y822C,Missense_Y822C,Missense_Y822C,Missense_Y822C,Missense_Y822C exm1312157 17 33679704 [T/C] NM_001104588,NM_001104587,NM_001104590,NM_152270,NM_001104589 SLFN11,SLFN11,SLFN11,SLFN11,SLFN11 EXON Missense_A793T,Missense_A793T,Missense_A793T,Missense_A793T,Missense_A793T exm1312159 17 33679728 [A/C] NM_001104588,NM_001104587,NM_001104590,NM_152270,NM_001104589 SLFN11,SLFN11,SLFN11,SLFN11,SLFN11 EXON Missense_V785L,Missense_V785L,Missense_V785L,Missense_V785L,Missense_V785L exm1312166 17 33679943 [T/C] NM_001104588,NM_001104587,NM_001104590,NM_152270,NM_001104589 SLFN11,SLFN11,SLFN11,SLFN11,SLFN11 EXON Missense_S713N,Missense_S713N,Missense_S713N,Missense_S713N,Missense_S713N exm1312168 17 33680015 [T/C] NM_001104588,NM_001104587,NM_001104590,NM_152270,NM_001104589 SLFN11,SLFN11,SLFN11,SLFN11,SLFN11 EXON Missense_R689Q,Missense_R689Q,Missense_R689Q,Missense_R689Q,Missense_R689Q exm1882211 17 33680142 [A/G] NM_001104588,NM_001104587,NM_001104590,NM_152270,NM_001104589 SLFN11,SLFN11,SLFN11,SLFN11,SLFN11 EXON Nonsense_R647X,Nonsense_R647X,Nonsense_R647X,Nonsense_R647X,Nonsense_R647X exm2252951 17 33680507 [T/G] NM_001104588,NM_001104587,NM_001104590,NM_152270,NM_001104589 SLFN11,SLFN11,SLFN11,SLFN11,SLFN11 EXON Synonymous_R590R,Synonymous_R590R,Synonymous_R590R,Synonymous_R590R,Synonymous_R590R exm1312196 17 33680941 [T/C] NM_001104588,NM_001104587,NM_001104590,NM_152270,NM_001104589 SLFN11,SLFN11,SLFN11,SLFN11,SLFN11 EXON Missense_A446T,Missense_A446T,Missense_A446T,Missense_A446T,Missense_A446T exm1312206 17 33681061 [A/G] NM_001104588,NM_001104587,NM_001104590,NM_152270,NM_001104589 SLFN11,SLFN11,SLFN11,SLFN11,SLFN11 EXON Nonsense_R406X,Nonsense_R406X,Nonsense_R406X,Nonsense_R406X,Nonsense_R406X exm1312222 17 33689956 [A/G] NM_001104588,NM_001104587,NM_001104590,NM_152270,NM_001104589 SLFN11,SLFN11,SLFN11,SLFN11,SLFN11 EXON Missense_R291C,Missense_R291C,Missense_R291C,Missense_R291C,Missense_R291C exm1312229 17 33690160 [A/T] NM_001104588,NM_001104587,NM_001104590,NM_152270,NM_001104589 SLFN11,SLFN11,SLFN11,SLFN11,SLFN11 EXON Missense_F223I,Missense_F223I,Missense_F223I,Missense_F223I,Missense_F223I exm1312237 17 33690240 [T/C] NM_001104588,NM_001104587,NM_001104590,NM_152270,NM_001104589 SLFN11,SLFN11,SLFN11,SLFN11,SLFN11 EXON Missense_K196R,Missense_K196R,Missense_K196R,Missense_K196R,Missense_K196R exm1312244 17 33690367 [T/C] NM_001104588,NM_001104587,NM_001104590,NM_152270,NM_001104589 SLFN11,SLFN11,SLFN11,SLFN11,SLFN11 EXON Missense_T154A,Missense_T154A,Missense_T154A,Missense_T154A,Missense_T154A exm1312248 17 33690426 [T/C] NM_001104588,NM_001104587,NM_001104590,NM_152270,NM_001104589 SLFN11,SLFN11,SLFN11,SLFN11,SLFN11 EXON Missense_R134H,Missense_R134H,Missense_R134H,Missense_R134H,Missense_R134H exm1312251 17 33690466 [A/C] NM_001104588,NM_001104587,NM_001104590,NM_152270,NM_001104589 SLFN11,SLFN11,SLFN11,SLFN11,SLFN11 EXON Missense_V121F,Missense_V121F,Missense_V121F,Missense_V121F,Missense_V121F exm1312253 17 33690553 [T/C] NM_001104588,NM_001104587,NM_001104590,NM_152270,NM_001104589 SLFN11,SLFN11,SLFN11,SLFN11,SLFN11 EXON Missense_A92T,Missense_A92T,Missense_A92T,Missense_A92T,Missense_A92T exm1312256 17 33690619 [T/G] NM_001104588,NM_001104587,NM_001104590,NM_152270,NM_001104589 SLFN11,SLFN11,SLFN11,SLFN11,SLFN11 EXON Missense_P70T,Missense_P70T,Missense_P70T,Missense_P70T,Missense_P70T exm2274924 17 33690693 [T/C] NM_001104588,NM_001104587,NM_001104590,NM_152270,NM_001104589 SLFN11,SLFN11,SLFN11,SLFN11,SLFN11 EXON Missense_R45K,Missense_R45K,Missense_R45K,Missense_R45K,Missense_R45K exm1312268 17 33738463 [A/G] NM_018042 SLFN12 EXON Missense_L544P exm1312276 17 33738698 [A/T] NM_018042 SLFN12 EXON Missense_F466I exm1312277 17 33738712 [A/G] NM_018042 SLFN12 EXON Missense_V461A exm1312281 17 33738940 [A/G] NM_018042 SLFN12 EXON Missense_S385L exm2272586 17 33746574 [T/C] NM_018042 SLFN12 Silent exm1312282 17 33747358 [A/G] NM_018042 SLFN12 EXON Missense_T361M exm1312290 17 33749193 [A/C] NM_018042 SLFN12 EXON Nonsense_Y285X exm1312292 17 33749214 [T/C] NM_018042 SLFN12 EXON Missense_M278I exm1312293 17 33749215 [A/G] NM_018042 SLFN12 EXON Missense_M278T exm1312297 17 33749287 [T/A] NM_018042 SLFN12 EXON Missense_M254K exm1312298 17 33749288 [T/C] NM_018042 SLFN12 EXON Missense_M254V exm1312300 17 33749344 [T/C] NM_018042 SLFN12 EXON Missense_G235E exm1312307 17 33749546 [A/G] NM_018042 SLFN12 EXON Missense_C168R exm1312310 17 33749609 [T/G] NM_018042 SLFN12 EXON Missense_K147Q exm1882264 17 33749659 [A/T] NM_018042 SLFN12 EXON Missense_D130V exm1312345 17 33767943 [T/C] NM_144682 SLFN13 EXON Missense_V789M exm1312351 17 33768087 [T/C] NM_144682 SLFN13 EXON Missense_I741V exm1312358 17 33768284 [A/G] NM_144682 SLFN13 EXON Missense_T675I exm1312365 17 33768368 [T/C] NM_144682 SLFN13 EXON Missense_R647Q exm1312366 17 33768369 [A/G] NM_144682 SLFN13 EXON Nonsense_R647X exm1312404 17 33769211 [T/C] NM_144682 SLFN13 EXON Missense_M431I exm1312405 17 33769240 [T/C] NM_144682 SLFN13 EXON Missense_G422R exm1312415 17 33770840 [A/T] NM_144682 SLFN13 EXON Missense_H389L exm1312425 17 33771685 [A/G] NM_144682 SLFN13 EXON Missense_R339C exm1312430 17 33771784 [G/C] NM_144682 SLFN13 EXON Missense_E306Q exm1312440 17 33771923 [A/C] NM_144682 SLFN13 EXON Missense_C259W exm1312447 17 33771996 [A/G] NM_144682 SLFN13 EXON Missense_S235F exm1312460 17 33772246 [T/C] NM_144682 SLFN13 EXON Missense_D152N exm1312462 17 33772329 [T/C] NM_144682 SLFN13 EXON Missense_N124S exm1312465 17 33772356 [T/C] NM_144682 SLFN13 EXON Missense_D115G exm1312466 17 33772359 [T/C] NM_144682 SLFN13 EXON Missense_G114D exm1312477 17 33772552 [T/C] NM_144682 SLFN13 EXON Missense_A50T exm1312480 17 33772649 [T/C] NM_144682 SLFN13 EXON Synonymous_L17L exm2252953 17 33772649 [T/C] NM_144682 SLFN13 EXON Synonymous_L17L exm2226144 17 33772656 [A/G] NM_144682 SLFN13 EXON Missense_P15L exm1312481 17 33772658 [T/G] NM_144682 SLFN13 EXON Nonsense_Y14X exm1312483 17 33772689 [T/C] NM_144682 SLFN13 EXON Missense_N4S exm1882307 17 33772713 [A/C] NM_144682 SLFN13 Silent exm1312488 17 33802153 [A/G] NM_001195790 SLFN12L EXON Missense_L519S exm1312489 17 33802156 [T/G] NM_001195790 SLFN12L EXON Missense_Y518S exm1312491 17 33802228 [T/C] NM_001195790 SLFN12L EXON Missense_Q494R exm1312493 17 33805150 [T/C] NM_001195790 SLFN12L EXON Missense_Y383C exm1312494 17 33805165 [A/G] NM_001195790 SLFN12L EXON Missense_P378L exm1312495 17 33805172 [A/G] NM_001195790 SLFN12L EXON Missense_S376P exm1312496 17 33805180 [C/G] NM_001195790 SLFN12L EXON Missense_A373G exm1312503 17 33806250 [A/G] NM_001195790 SLFN12L EXON Missense_R327C exm1312504 17 33806280 [A/C] NM_001195790 SLFN12L EXON Missense_C317G exm1312510 17 33806544 [A/T] NM_001195790 SLFN12L EXON Missense_T229S exm1312511 17 33806546 [A/G] NM_001195790 SLFN12L EXON Missense_S228L exm1312515 17 33806697 [T/G] NM_001195790 SLFN12L EXON Missense_P178T exm-IND17-30830954 17 33806842 [D/I] NM_001195790 SLFN12L EXON exm1312528 17 33814758 [T/C] NM_001195790 SLFN12L EXON Missense_M1V exm-rs8070473 17 33843512 [T/G] exm1312531 17 33875262 [T/A] NM_001129820 SLFN14 EXON Missense_Y912F exm1312533 17 33875293 [A/G] NM_001129820 SLFN14 EXON Missense_L902F exm1312539 17 33875688 [A/T] NM_001129820 SLFN14 EXON Missense_Y770F exm1312544 17 33875851 [A/G] NM_001129820 SLFN14 EXON Missense_L716F exm1312561 17 33880305 [T/C] NM_001129820 SLFN14 EXON Missense_K450E exm1312565 17 33881631 [T/C] NM_001129820 SLFN14 EXON Missense_K385E exm1312570 17 33881718 [A/G] NM_001129820 SLFN14 EXON Missense_P356S exm1312573 17 33884124 [T/C] NM_001129820 SLFN14 EXON Missense_V320M exm1312583 17 33884567 [A/G] NM_001129820 SLFN14 EXON Missense_V172A exm1312584 17 33884597 [T/G] NM_001129820 SLFN14 EXON Missense_P162Q exm1312587 17 33884688 [A/G] NM_001129820 SLFN14 EXON Missense_R132W exm1312591 17 33884804 [T/C] NM_001129820 SLFN14 EXON Missense_Q93R exm1312605 17 33903070 [C/G] NM_000286 PEX12 EXON Missense_E271Q exm1312609 17 33903144 [T/G] NM_000286 PEX12 EXON Missense_S246Y exm1312610 17 33903148 [A/T] NM_000286 PEX12 EXON Missense_L245I exm1312611 17 33903159 [A/C] NM_000286 PEX12 EXON Missense_G241V exm1312612 17 33903202 [T/G] NM_000286 PEX12 Silent exm1312619 17 33904285 [T/C] NM_000286 PEX12 EXON Missense_R151H exm1312620 17 33904286 [A/G] NM_000286 PEX12 EXON Missense_R151C exm1312631 17 33904939 [T/A] NM_000286 PEX12 EXON Missense_R34S exm1312648 17 33951431 [A/G] NM_001282,NM_001030006 AP2B1,AP2B1 EXON Missense_V181I,Missense_V181I exm1312690 17 33998897 [A/G] NM_001282,NM_001030006 AP2B1,AP2B1 EXON Missense_G705D,Missense_G719D exm2252954 17 34033072 [T/C] NM_001282,NM_001030006 AP2B1,AP2B1 Silent,Silent exm1312723 17 34062334 [A/C] NM_033315 RASL10B EXON Missense_P44H exm1312737 17 34068250 [A/G] NM_033315 RASL10B EXON Missense_A180T exm1312747 17 34071968 [T/C] NM_139285 GAS2L2 EXON Missense_A850T exm1312755 17 34072031 [A/G] NM_139285 GAS2L2 EXON Missense_R829W exm2274925 17 34072174 [G/C] NM_139285 GAS2L2 EXON Missense_R781P exm1312766 17 34072264 [T/G] NM_139285 GAS2L2 EXON Missense_A751D exm1312770 17 34072295 [A/G] NM_139285 GAS2L2 EXON Missense_P741S exm1312779 17 34072519 [A/G] NM_139285 GAS2L2 EXON Missense_L666P exm1312780 17 34072529 [A/G] NM_139285 GAS2L2 EXON Missense_P663S exm1312782 17 34072555 [A/G] NM_139285 GAS2L2 EXON Missense_A654V exm1312787 17 34072736 [T/C] NM_139285 GAS2L2 EXON Missense_G594R exm1312789 17 34072760 [A/G] NM_139285 GAS2L2 EXON Missense_R586W exm1882388 17 34072870 [A/G] NM_139285 GAS2L2 EXON Missense_T549M exm1312792 17 34072895 [T/C] NM_139285 GAS2L2 EXON Missense_V541I exm1312794 17 34072898 [T/C] NM_139285 GAS2L2 EXON Missense_A540T exm1312795 17 34072909 [T/A] NM_139285 GAS2L2 EXON Missense_I536N exm1312802 17 34072985 [A/G] NM_139285 GAS2L2 EXON Missense_R511C exm1312804 17 34073000 [A/G] NM_139285 GAS2L2 EXON Missense_R506W exm1312814 17 34073075 [T/C] NM_139285 GAS2L2 EXON Missense_A481T exm1312820 17 34073120 [T/C] NM_139285 GAS2L2 EXON Missense_E466K exm1312823 17 34073137 [T/C] NM_139285 GAS2L2 EXON Missense_R460H exm1312824 17 34073138 [A/G] NM_139285 GAS2L2 EXON Missense_R460C exm1312827 17 34073194 [T/C] NM_139285 GAS2L2 EXON Missense_R441Q exm1312829 17 34073219 [T/C] NM_139285 GAS2L2 EXON Missense_G433R exm1312840 17 34073312 [T/C] NM_139285 GAS2L2 EXON Missense_K402E exm1312858 17 34074129 [A/G] NM_139285 GAS2L2 EXON Nonsense_R331X exm1312862 17 34074252 [A/G] NM_139285 GAS2L2 EXON Missense_P290S exm1312864 17 34074257 [A/G] NM_139285 GAS2L2 EXON Missense_P288L exm1312868 17 34074883 [A/G] NM_139285 GAS2L2 EXON Missense_R273C exm1312874 17 34074940 [A/G] NM_139285 GAS2L2 EXON Missense_R254C exm1312876 17 34074949 [T/C] NM_139285 GAS2L2 EXON Missense_V251M exm1312879 17 34076211 [A/G] NM_139285 GAS2L2 EXON Missense_T218M exm1312892 17 34077232 [A/G] NM_139285 GAS2L2 EXON Missense_A164V exm1882409 17 34079517 [T/A] NM_139285 GAS2L2 EXON Missense_I118N exm1312899 17 34079553 [C/G] NM_139285 GAS2L2 EXON Missense_G106A exm2274926 17 34079659 [A/C] NM_139285 GAS2L2 EXON Missense_V71F exm1312907 17 34079730 [T/C] NM_139285 GAS2L2 EXON Missense_G47E exm1312912 17 34079823 [C/G] NM_139285 GAS2L2 EXON Missense_P16R exm1312917 17 34091040 [T/A] NM_145272 C17orf50 EXON Missense_L10M exm1312918 17 34091078 [C/G] NM_145272 C17orf50 EXON Missense_D22E exm1312935 17 34091633 [T/C] NM_145272 C17orf50 EXON Missense_S174F exm1312943 17 34093663 [A/G] NM_024302 MMP28 EXON Missense_P473L exm1312945 17 34093681 [A/G] NM_024302 MMP28 EXON Missense_A467V exm1312947 17 34093726 [A/G] NM_024302 MMP28 EXON Missense_T452I exm1312962 17 34094853 [T/C] NM_024302 MMP28 EXON Missense_C362Y exm1312965 17 34094907 [T/C] NM_024302 MMP28 EXON Missense_G344E exm1312968 17 34095304 [T/G] NM_024302 MMP28 EXON Missense_A315D exm1312978 17 34097183 [T/C] NM_024302 MMP28 EXON Missense_R251H exm1313000 17 34100327 [A/G] NM_024302 MMP28 EXON Missense_P154L exm1313001 17 34100330 [A/G] NM_024302 MMP28 EXON Missense_A153V exm1313002 17 34100331 [T/C] NM_024302 MMP28 EXON Missense_A153T exm1313006 17 34100403 [T/C] NM_024302 MMP28 EXON Missense_K129E exm1313015 17 34105997 [T/C] NM_024302,NM_001032278 MMP28,MMP28 EXON Missense_G92R,Missense_G92R exm1313018 17 34106020 [T/C] NM_024302,NM_001032278 MMP28,MMP28 EXON Missense_R84H,Missense_R84H exm2226152 17 34106309 [T/C] NM_024302,NM_001032278 MMP28,MMP28 EXON Missense_G44R,Missense_G44R exm1313025 17 34106326 [A/G] NM_024302,NM_001032278 MMP28,MMP28 EXON Missense_A38V,Missense_A38V exm1313028 17 34122300 [C/G] NM_024302,NM_001032278 MMP28,MMP28 EXON Missense_G28R,Missense_G28R exm1313044 17 34147222 [A/G] NM_139215,NM_003487 TAF15,TAF15 EXON Missense_G52S,Missense_G52S exm1313050 17 34149682 [A/G] NM_139215,NM_003487 TAF15,TAF15 EXON Missense_Y110C,Missense_Y107C exm1313053 17 34149718 [A/G] NM_139215,NM_003487 TAF15,TAF15 EXON Missense_Y122C,Missense_Y119C exm1313065 17 34151127 [A/G] NM_139215,NM_003487 TAF15,TAF15 EXON Missense_Y177C,Missense_Y174C exm1313091 17 34171162 [T/C] NM_139215,NM_003487 TAF15,TAF15 EXON Missense_P363L,Missense_P360L exm1313093 17 34171357 [T/C] NM_139215,NM_003487 TAF15,TAF15 EXON Missense_R388C,Missense_R385C exm1313094 17 34171358 [A/G] NM_139215,NM_003487 TAF15,TAF15 EXON Missense_R388H,Missense_R385H exm1313097 17 34171487 [A/G] NM_139215,NM_003487 TAF15,TAF15 EXON Missense_R395Q,Missense_R392Q exm1313100 17 34171525 [T/C] NM_139215,NM_003487 TAF15,TAF15 EXON Missense_R408C,Missense_R405C exm1313108 17 34171583 [A/G] NM_139215,NM_003487 TAF15,TAF15 EXON Missense_Y427C,Missense_Y424C exm1313146 17 34171927 [A/G] NM_139215,NM_003487 TAF15,TAF15 EXON Missense_G542S,Missense_G539S exm1313157 17 34182092 [T/C] NM_152781 C17orf66 EXON Missense_R563Q exm2226153 17 34182093 [A/G] NM_152781 C17orf66 EXON Missense_R563W exm2276498 17 34182142 [A/C] NM_152781 C17orf66 EXON Missense_H546Q exm1313162 17 34182158 [A/G] NM_152781 C17orf66 EXON Missense_S541L exm1313165 17 34182182 [A/G] NM_152781 C17orf66 EXON Missense_T533M exm1313166 17 34182246 [A/G] NM_152781 C17orf66 EXON Nonsense_R512X exm1313168 17 34182273 [T/G] NM_152781 C17orf66 EXON Missense_P503T exm1313171 17 34182341 [A/G] NM_152781 C17orf66 EXON Missense_S480F exm1313179 17 34182738 [T/C] NM_152781 C17orf66 EXON Missense_R432H exm1313183 17 34183185 [T/C] NM_152781 C17orf66 EXON Missense_I424V exm1313189 17 34183757 [A/G] NM_152781 C17orf66 EXON Missense_T402M exm1313195 17 34185270 [G/C] NM_152781 C17orf66 EXON Missense_Q362H exm1313198 17 34185496 [A/G] NM_152781 C17orf66 EXON Missense_H325Y exm1313203 17 34185899 [T/C] NM_152781 C17orf66 EXON Missense_R311Q exm1313205 17 34186013 [A/G] NM_152781 C17orf66 EXON Missense_S273L exm1882505 17 34186040 [A/G] NM_152781 C17orf66 EXON Missense_P264L exm1313207 17 34186062 [T/C] NM_152781 C17orf66 EXON Missense_G257R exm1313210 17 34190069 [A/C] NM_152781 C17orf66 EXON Missense_G229V exm1313216 17 34190524 [A/G] NM_152781 C17orf66 EXON Nonsense_R203X exm1313219 17 34191290 [T/C] NM_152781 C17orf66 EXON Missense_R176H exm1313226 17 34191793 [A/G] NM_152781 C17orf66 EXON Missense_T141I exm1313228 17 34191815 [A/G] NM_152781 C17orf66 EXON Nonsense_R134X exm1313233 17 34191865 [T/A] NM_152781 C17orf66 EXON Missense_I117N exm1313241 17 34192351 [A/G] NM_152781 C17orf66 EXON Missense_P63L exm1313243 17 34192369 [T/C] NM_152781 C17orf66 EXON Missense_E57G exm1313244 17 34192383 [T/A] NM_152781 C17orf66 EXON Missense_F52L exm1313246 17 34193767 [T/G] NM_152781 C17orf66 EXON Missense_K33N exm1313248 17 34195739 [T/C] NM_152781 C17orf66 EXON Missense_Y3C exm1313263 17 34205601 [T/C] NM_002985 CCL5 EXON Missense_R40H exm1313270 17 34245404 [T/C] NM_001163122,NM_001163124,NR_028000,NR_027998,NR_027997,NM_001163120,NM_145654,NR_027996,NM_001163121,NR_027999,NM_001163130 RDM1,RDM1,RDM1,RDM1,RDM1,RDM1,RDM1,RDM1,RDM1,RDM1,RDM1 EXON Missense_G210E,Missense_G125E,Silent,Silent,Silent,Missense_G148E,Missense_G266E,Silent,Missense_G233E,Silent,Missense_G243E exm1882540 17 34247202 [T/C] NM_001163122,NM_001163124,NR_028000,NR_027998,NR_027997,NM_001163120,NM_145654,NR_027996,NM_001163121,NR_027999,NM_001163130 RDM1,RDM1,RDM1,RDM1,RDM1,RDM1,RDM1,RDM1,RDM1,RDM1,RDM1 EXON Missense_G192S,Silent,Silent,Silent,Silent,Silent,Missense_G248S,Silent,Missense_G215S,Silent,Missense_G225S exm1313285 17 34251661 [G/C] NM_001163122,NM_001163124,NR_028000,NR_027998,NR_027997,NM_001163120,NM_145654,NR_027996,NM_001163121,NR_027999,NM_001163130,NM_001034836,NM_001163125 RDM1,RDM1,RDM1,RDM1,RDM1,RDM1,RDM1,RDM1,RDM1,RDM1,RDM1,RDM1,RDM1 EXON Missense_C149S,Silent,Silent,Silent,Silent,Silent,Missense_C172S,Silent,Missense_C172S,Silent,Missense_C149S,Missense_C172S,Silent exm1313286 17 34251718 [A/G] NM_001163122,NM_001163124,NR_028000,NR_027998,NR_027997,NM_001163120,NM_145654,NR_027996,NM_001163121,NR_027999,NM_001163130,NM_001034836,NM_001163125 RDM1,RDM1,RDM1,RDM1,RDM1,RDM1,RDM1,RDM1,RDM1,RDM1,RDM1,RDM1,RDM1 EXON Missense_P130L,Silent,Silent,Silent,Silent,Silent,Missense_P153L,Silent,Missense_P153L,Silent,Missense_P130L,Missense_P153L,Silent exm1313287 17 34251749 [T/C] NM_001163122,NM_001163124,NR_028000,NR_027998,NR_027997,NM_001163120,NM_145654,NR_027996,NM_001163121,NR_027999,NM_001163130,NM_001034836,NM_001163125 RDM1,RDM1,RDM1,RDM1,RDM1,RDM1,RDM1,RDM1,RDM1,RDM1,RDM1,RDM1,RDM1 EXON Missense_R120G,Silent,Silent,Silent,Silent,Silent,Missense_R143G,Silent,Missense_R143G,Silent,Missense_R120G,Missense_R143G,Silent exm1313288 17 34252537 [A/C] NM_001163122,NM_001163124,NR_028000,NR_027998,NR_027997,NM_001163120,NM_145654,NR_027996,NM_001163121,NR_027999,NM_001163130,NM_001034836,NM_001163125 RDM1,RDM1,RDM1,RDM1,RDM1,RDM1,RDM1,RDM1,RDM1,RDM1,RDM1,RDM1,RDM1 EXON Missense_C104W,Missense_C104W,Silent,Silent,Silent,Missense_C127W,Missense_C127W,Silent,Missense_C127W,Silent,Missense_C104W,Missense_C127W,Missense_C104W exm1313301 17 34257126 [A/T] NM_001163122,NM_001163124,NR_028000,NR_027998,NR_027997,NM_001163120,NM_145654,NR_027996,NM_001163121,NR_027999,NM_001163130,NM_001034836,NM_001163125 RDM1,RDM1,RDM1,RDM1,RDM1,RDM1,RDM1,RDM1,RDM1,RDM1,RDM1,RDM1,RDM1 EXON Missense_Q54L,Missense_Q54L,Silent,Silent,Silent,Missense_Q77L,Missense_Q77L,Silent,Missense_Q77L,Silent,Missense_Q54L,Missense_Q77L,Missense_Q54L exm1313304 17 34257264 [C/G] NM_001163122,NM_001163124,NR_028000,NR_027998,NR_027997,NM_001163120,NM_145654,NR_027996,NM_001163121,NR_027999,NM_001163130,NM_001034836,NM_001163125 RDM1,RDM1,RDM1,RDM1,RDM1,RDM1,RDM1,RDM1,RDM1,RDM1,RDM1,RDM1,RDM1 EXON Missense_P8R,Missense_P8R,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_P8R,Silent,Missense_P8R exm1313312 17 34257694 [T/C] NR_027998,NR_027997,NM_001163120,NM_145654,NR_027996,NM_001163121,NM_001034836 RDM1,RDM1,RDM1,RDM1,RDM1,RDM1,RDM1 EXON Silent,Silent,Missense_S13N,Missense_S13N,Silent,Missense_S13N,Missense_S13N exm1313322 17 34261831 [A/G] NM_001199951,NM_020426 LYZL6,LYZL6 EXON Missense_F139S,Missense_F139S exm1313323 17 34261840 [T/C] NM_001199951,NM_020426 LYZL6,LYZL6 EXON Missense_R136Q,Missense_R136Q exm1313329 17 34263792 [G/C] NM_001199951,NM_020426 LYZL6,LYZL6 EXON Missense_R115T,Missense_R115T exm1313333 17 34264761 [T/C] NM_001199951,NM_020426 LYZL6,LYZL6 Silent,Silent exm1313334 17 34264774 [T/C] NM_001199951,NM_020426 LYZL6,LYZL6 EXON Missense_V96I,Missense_V96I exm1313342 17 34264832 [C/G] NM_001199951,NM_020426 LYZL6,LYZL6 EXON Missense_Q76H,Missense_Q76H exm1313353 17 34304605 [A/C] NM_004590 CCL16 EXON Missense_Q120H exm1313357 17 34304695 [T/A] NM_004590 CCL16 EXON Missense_D90E exm1313359 17 34304752 [A/C] NM_004590 CCL16 EXON Missense_R71S exm1313365 17 34305224 [A/G] NM_004590 CCL16 EXON Missense_V51A exm1313372 17 34308444 [T/C] NM_004590 CCL16 EXON Missense_E5K exm1313379 17 34310899 [T/C] NR_027922,NM_032962,NM_032963,NR_027921 CCL15-CCL14,CCL14,CCL14,CCL15-CCL14 EXON Silent,Missense_V90I,Missense_V74I,Silent exm1313380 17 34310908 [T/C] NR_027922,NM_032962,NM_032963,NR_027921 CCL15-CCL14,CCL14,CCL14,CCL15-CCL14 EXON Silent,Missense_G87S,Missense_G71S,Silent exm2252955 17 34311382 [A/G] NR_027922,NM_032962,NM_032963,NR_027921 CCL15-CCL14,CCL14,CCL14,CCL15-CCL14 EXON Silent,Synonymous_P78P,Synonymous_P62P,Silent exm1313384 17 34311387 [T/C] NR_027922,NM_032962,NM_032963,NR_027921 CCL15-CCL14,CCL14,CCL14,CCL15-CCL14 EXON Silent,Missense_K77E,Missense_K61E,Silent exm1313387 17 34311408 [T/C] NR_027922,NM_032962,NM_032963,NR_027921 CCL15-CCL14,CCL14,CCL14,CCL15-CCL14 EXON Silent,Missense_E70K,Missense_E54K,Silent exm1882590 17 34311425 [T/C] NR_027922,NM_032962,NM_032963,NR_027921 CCL15-CCL14,CCL14,CCL14,CCL15-CCL14 EXON Silent,Missense_R64Q,Missense_R48Q,Silent exm1313388 17 34311426 [A/G] NR_027922,NM_032962,NM_032963,NR_027921 CCL15-CCL14,CCL14,CCL14,CCL15-CCL14 EXON Silent,Missense_R64W,Missense_R48W,Silent exm1313389 17 34311431 [T/C] NR_027922,NM_032962,NM_032963,NR_027921 CCL15-CCL14,CCL14,CCL14,CCL15-CCL14 EXON Silent,Missense_R62H,Missense_R46H,Silent exm1313392 17 34311455 [A/G] NR_027922,NM_032962,NM_032963,NR_027921 CCL15-CCL14,CCL14,CCL14,CCL15-CCL14 EXON Silent,Missense_T54I,Missense_T38I,Silent exm1313395 17 34313612 [A/G] NR_027922,NM_032962,NM_032963,NR_027921 CCL15-CCL14,CCL14,CCL14,CCL15-CCL14 EXON Silent,Missense_S25F,Missense_S25F,Silent exm1313406 17 34324849 [A/G] NR_027922,NR_027921,NM_032965 CCL15-CCL14,CCL15-CCL14,CCL15 EXON Silent,Silent,Missense_P99L exm1313409 17 34325325 [A/G] NR_027922,NR_027921,NM_032965 CCL15-CCL14,CCL15-CCL14,CCL15 EXON Silent,Silent,Missense_P80L exm1313410 17 34325326 [T/G] NR_027922,NR_027921,NM_032965 CCL15-CCL14,CCL15-CCL14,CCL15 EXON Silent,Silent,Missense_P80T exm1313412 17 34325341 [T/A] NR_027922,NR_027921,NM_032965 CCL15-CCL14,CCL15-CCL14,CCL15 EXON Silent,Silent,Missense_S75C exm1313413 17 34325346 [A/G] NR_027922,NR_027921,NM_032965 CCL15-CCL14,CCL15-CCL14,CCL15 EXON Silent,Silent,Missense_T73M exm1313420 17 34328461 [A/G] NR_027922,NR_027921,NM_032965 CCL15-CCL14,CCL15-CCL14,CCL15 EXON Silent,Silent,Missense_I24T exm1313428 17 34340284 [T/C] NM_005064,NM_145898 CCL23,CCL23 EXON Missense_V123M,Missense_V106M exm1313429 17 34340325 [T/C] NM_005064,NM_145898 CCL23,CCL23 EXON Missense_R109H,Missense_R92H exm1313430 17 34340347 [A/G] NM_005064,NM_145898 CCL23,CCL23 EXON Missense_F102L,Missense_F85L exm1313438 17 34340860 [T/C] NM_005064,NM_145898 CCL23,CCL23 EXON Missense_T76A,Missense_T59A exm1313446 17 34344904 [A/G] NM_005064,NM_145898 CCL23,CCL23 EXON Missense_L11F,Missense_L11F exm1313451 17 34391721 [A/G] NM_002988 CCL18 EXON Missense_A7T exm1313464 17 34398351 [A/G] NM_002988 CCL18 EXON Missense_N74D exm1313470 17 34416038 [T/C] NM_002983 CCL3 EXON Missense_D87N exm1313473 17 34416058 [T/C] NM_002983 CCL3 EXON Nonsense_W80X exm1313484 17 34416623 [T/C] NM_002983 CCL3 EXON Missense_A32T exm2226162 17 34431342 [A/C] NM_002984 CCL4 EXON Missense_A15D exm1313501 17 34431360 [T/C] NM_002984 CCL4 EXON Missense_A21V exm2273548 17 34432735 [A/G] NM_002984 CCL4 EXON Silent exm-rs4796217 17 34819191 [T/C] exm1313643 17 34842808 [A/G] NM_004773 ZNHIT3 EXON Missense_K39R exm1313646 17 34848678 [A/G] NM_004773 ZNHIT3 EXON Missense_R47H exm1313672 17 34854121 [T/C] NM_001163735,NM_025109 MYO19,MYO19 EXON Missense_A916T,Missense_A716T exm1313676 17 34854280 [A/G] NM_001163735,NM_025109 MYO19,MYO19 EXON Missense_L863F,Missense_L663F exm1313686 17 34854999 [A/G] NM_001163735,NM_025109 MYO19,MYO19 EXON Missense_R795C,Missense_R595C exm1313691 17 34856697 [A/G] NM_001163735,NM_025109 MYO19,MYO19 EXON Missense_W784R,Missense_W584R exm1313695 17 34856721 [A/G] NM_001163735,NM_025109 MYO19,MYO19 EXON Missense_R776W,Missense_R576W exm1313702 17 34856911 [T/C] NM_001163735,NM_025109 MYO19,MYO19 EXON Missense_M749V,Missense_M549V exm1313703 17 34856943 [T/C] NM_001163735,NM_025109 MYO19,MYO19 EXON Missense_C738Y,Missense_C538Y exm1313715 17 34858939 [A/G] NM_001163735,NM_025109 MYO19,MYO19 EXON Missense_P693L,Missense_P493L exm1313719 17 34858985 [A/G] NM_001163735,NM_025109 MYO19,MYO19 EXON Missense_C678R,Missense_C478R exm1313728 17 34861135 [T/C] NM_001163735,NM_025109 MYO19,MYO19 Silent,Silent exm1313749 17 34862932 [T/C] NM_001163735,NM_025109 MYO19,MYO19 EXON Missense_R505H,Silent exm1313754 17 34863650 [A/C] NM_001163735,NM_025109 MYO19,MYO19 EXON Missense_A449S,Silent exm1882829 17 34866586 [A/G] NM_001163735,NM_025109 MYO19,MYO19 EXON Missense_R386W,Missense_R386W exm1313766 17 34866619 [A/G] NM_001163735,NM_025109 MYO19,MYO19 EXON Missense_R375C,Missense_R375C exm1313775 17 34866718 [T/C] NM_001163735,NM_025109 MYO19,MYO19 EXON Missense_E342K,Missense_E342K exm1313777 17 34866744 [A/G] NM_001163735,NM_025109 MYO19,MYO19 EXON Missense_T333M,Missense_T333M exm1313791 17 34869319 [T/C] NM_001163735,NM_025109,NM_001033580 MYO19,MYO19,MYO19 EXON Missense_M283V,Missense_M283V,Missense_M283V exm1313792 17 34869473 [T/G] NM_001163735,NM_025109,NM_001033580 MYO19,MYO19,MYO19 EXON Missense_E272D,Missense_E272D,Missense_E272D exm1313802 17 34870338 [T/C] NM_001163735,NM_025109,NM_001033580 MYO19,MYO19,MYO19 EXON Missense_R224Q,Missense_R224Q,Missense_R224Q exm1313803 17 34870369 [T/C] NM_001163735,NM_025109,NM_001033580 MYO19,MYO19,MYO19 EXON Missense_A214T,Missense_A214T,Missense_A214T exm1313807 17 34871713 [T/G] NM_001163735,NM_025109,NM_001033580 MYO19,MYO19,MYO19 EXON Missense_M179L,Missense_M179L,Missense_M179L exm1313808 17 34871721 [T/C] NM_001163735,NM_025109,NM_001033580 MYO19,MYO19,MYO19 EXON Missense_N176S,Missense_N176S,Missense_N176S exm1313813 17 34871802 [T/C] NM_001163735,NM_025109,NM_001033580 MYO19,MYO19,MYO19 EXON Missense_Y149C,Missense_Y149C,Missense_Y149C exm1313826 17 34883438 [G/C] NM_001163735,NM_025109,NM_001033580 MYO19,MYO19,MYO19 EXON Missense_P82A,Missense_P82A,Missense_P82A exm1313838 17 34884029 [T/C] NM_001163735,NM_025109,NM_001033580 MYO19,MYO19,MYO19 EXON Missense_N6S,Missense_N6S,Missense_N6S exm1313844 17 34893056 [A/G] NM_178517 PIGW EXON Missense_R36G exm1882874 17 34893203 [A/G] NM_178517 PIGW EXON Missense_G85S exm1313851 17 34893242 [T/C] NM_178517 PIGW EXON Missense_Y98H exm1313853 17 34893326 [A/G] NM_178517 PIGW EXON Missense_N126D exm1313866 17 34893596 [T/C] NM_178517 PIGW EXON Nonsense_R216X exm2277113 17 34893655 [T/C] NM_178517 PIGW EXON Synonymous_H235H exm1882875 17 34893655 [C/G] NM_178517 PIGW EXON Missense_H235Q exm1313869 17 34893714 [T/C] NM_178517 PIGW EXON Missense_I255T exm1313870 17 34893746 [T/C] NM_178517 PIGW EXON Missense_L266F exm1313885 17 34894082 [C/G] NM_178517 PIGW EXON Missense_V378L exm1882880 17 34894160 [A/G] NM_178517 PIGW EXON Missense_G404R exm1313887 17 34894191 [T/C] NM_178517 PIGW EXON Missense_I414T exm1313901 17 34912924 [A/G] NM_024835 GGNBP2 EXON Missense_R59Q exm1313906 17 34913169 [A/G] NM_024835 GGNBP2 EXON Missense_V141I exm1313908 17 34916613 [A/G] NM_024835 GGNBP2 EXON Synonymous_G143G exm1313913 17 34934463 [T/C] NM_024835 GGNBP2 EXON Missense_I231T exm1882928 17 34943616 [A/G] NM_024835 GGNBP2 EXON Missense_T611A exm1313972 17 34951458 [A/T] NM_024308 DHRS11 EXON Missense_C69S exm1313979 17 34954592 [A/G] NM_024308 DHRS11 EXON Missense_V120M exm1313992 17 34956121 [A/G] NM_024308 DHRS11 EXON Missense_E202K exm1313996 17 34956456 [A/C] NM_024308 DHRS11 EXON Missense_A244E exm1314002 17 34958256 [T/C] NM_024864 MRM1 EXON Missense_T6I exm2252958 17 34958393 [T/C] NM_024864 MRM1 EXON Synonymous_L52L exm1314010 17 34958435 [A/C] NM_024864 MRM1 EXON Missense_R66S exm1314013 17 34958531 [T/C] NM_024864 MRM1 EXON Missense_P98S exm1314015 17 34958573 [G/C] NM_024864 MRM1 EXON Missense_R112G exm1314017 17 34958598 [C/G] NM_024864 MRM1 EXON Missense_C120S exm1314024 17 34958708 [T/C] NM_024864 MRM1 EXON Missense_R157W exm1314029 17 34959002 [T/G] NM_024864 MRM1 EXON Missense_V188G exm2252959 17 34964399 [A/G] NM_024864 MRM1 EXON Synonymous_L278L exm1314053 17 34964807 [A/G] NM_024864 MRM1 EXON Missense_G340R exm2272511 17 35010976 [T/C] exm2268003 17 35272108 [A/G] exm1314062 17 35295653 [C/G] NM_005568 LHX1 EXON Missense_N53K exm1314063 17 35295663 [A/C] NM_005568 LHX1 EXON Synonymous_R57R exm1883007 17 35297628 [T/C] NM_005568 LHX1 EXON Missense_S71F exm1314073 17 35297925 [A/C] NM_005568 LHX1 EXON Missense_P139H exm1314079 17 35298121 [C/G] NM_005568 LHX1 EXON Missense_K204N exm1314080 17 35298125 [A/C] NM_005568 LHX1 EXON Missense_T206P exm1314110 17 35300369 [T/G] NM_005568 LHX1 EXON Missense_A388S exm1883016 17 35306450 [G/C] NM_012138 AATF EXON Missense_L9V exm2260650 17 35307070 [A/G] NM_012138 AATF Silent exm1314126 17 35307616 [T/G] NM_012138 AATF EXON Missense_L65W exm1314129 17 35307672 [A/G] NM_012138 AATF EXON Missense_D84N exm1314133 17 35310186 [A/G] NM_012138 AATF EXON Missense_D95G exm1314134 17 35310195 [T/C] NM_012138 AATF EXON Missense_I98T exm1314135 17 35310234 [A/G] NM_012138 AATF EXON Missense_G111E exm1314138 17 35310263 [A/G] NM_012138 AATF EXON Missense_D121N exm1314141 17 35310321 [A/G] NM_012138 AATF EXON Missense_R140K exm1314145 17 35310422 [A/G] NM_012138 AATF EXON Missense_E174K exm1314147 17 35310435 [A/G] NM_012138 AATF EXON Missense_S178N exm1314153 17 35310470 [T/C] NM_012138 AATF EXON Nonsense_Q190X exm1314161 17 35311114 [T/G] NM_012138 AATF EXON Missense_A247S exm1314162 17 35311115 [T/C] NM_012138 AATF EXON Missense_A247V exm1314172 17 35344006 [A/G] NM_012138 AATF EXON Missense_D308G exm1314175 17 35345870 [T/C] NM_012138 AATF EXON Nonsense_R334X exm1883028 17 35345963 [T/C] NM_012138 AATF EXON Missense_R365C exm1314206 17 35378292 [A/C] NM_012138 AATF EXON Missense_A509D exm1883041 17 35378312 [T/C] NM_012138 AATF EXON Missense_R516W exm1314217 17 35413944 [A/G] NM_012138 AATF EXON Missense_D555N exm1314229 17 35445967 [T/C] NM_198838,NM_198834,NM_198836,NM_198839,NM_198837 ACACA,ACACA,ACACA,ACACA,ACACA EXON Missense_E2197K,Missense_E2312K,Missense_E2275K,Missense_E2275K,Missense_E2217K exm1314231 17 35445978 [A/G] NM_198838,NM_198834,NM_198836,NM_198839,NM_198837 ACACA,ACACA,ACACA,ACACA,ACACA EXON Missense_A2193V,Missense_A2308V,Missense_A2271V,Missense_A2271V,Missense_A2213V exm1314242 17 35454892 [T/C] NM_198838,NM_198834,NM_198836,NM_198839,NM_198837 ACACA,ACACA,ACACA,ACACA,ACACA EXON Missense_R2083Q,Missense_R2198Q,Missense_R2161Q,Missense_R2161Q,Missense_R2103Q exm1314244 17 35454919 [T/C] NM_198838,NM_198834,NM_198836,NM_198839,NM_198837 ACACA,ACACA,ACACA,ACACA,ACACA EXON Missense_G2074E,Missense_G2189E,Missense_G2152E,Missense_G2152E,Missense_G2094E exm1314249 17 35468540 [T/C] NM_198838,NM_198834,NM_198836,NM_198839,NM_198837 ACACA,ACACA,ACACA,ACACA,ACACA EXON Missense_K2049R,Missense_K2164R,Missense_K2127R,Missense_K2127R,Missense_K2069R exm1314254 17 35478412 [T/C] NM_198838,NM_198834,NM_198836,NM_198839,NM_198837 ACACA,ACACA,ACACA,ACACA,ACACA EXON Missense_I1932V,Missense_I2047V,Missense_I2010V,Missense_I2010V,Missense_I1952V exm1314258 17 35482695 [T/C] NM_198838,NM_198834,NM_198836,NM_198839,NM_198837 ACACA,ACACA,ACACA,ACACA,ACACA EXON Missense_S1874G,Missense_S1989G,Missense_S1952G,Missense_S1952G,Missense_S1894G exm1314261 17 35482712 [T/C] NM_198838,NM_198834,NM_198836,NM_198839,NM_198837 ACACA,ACACA,ACACA,ACACA,ACACA EXON Missense_Q1868R,Missense_Q1983R,Missense_Q1946R,Missense_Q1946R,Missense_Q1888R exm1314307 17 35564680 [T/C] NM_198838,NM_198834,NM_198836,NM_198839,NM_198837 ACACA,ACACA,ACACA,ACACA,ACACA EXON Missense_M1133V,Missense_M1248V,Missense_M1211V,Missense_M1211V,Missense_M1153V exm1314322 17 35592004 [C/G] NM_198838,NM_198834,NM_198836,NM_198839,NM_198837 ACACA,ACACA,ACACA,ACACA,ACACA EXON Missense_D929E,Missense_D1044E,Missense_D1007E,Missense_D1007E,Missense_D949E exm1314326 17 35598930 [A/G] NM_198838,NM_198834,NM_198836,NM_198839,NM_198837 ACACA,ACACA,ACACA,ACACA,ACACA EXON Missense_R876W,Missense_R991W,Missense_R954W,Missense_R954W,Missense_R896W exm2252961 17 35600308 [A/G] NM_198838,NM_198834,NM_198836,NM_198839,NM_198837 ACACA,ACACA,ACACA,ACACA,ACACA EXON Synonymous_L855L,Synonymous_L970L,Synonymous_L933L,Synonymous_L933L,Synonymous_L875L exm1314331 17 35600469 [G/C] NM_198838,NM_198834,NM_198836,NM_198839,NM_198837 ACACA,ACACA,ACACA,ACACA,ACACA EXON Missense_D802H,Missense_D917H,Missense_D880H,Missense_D880H,Missense_D822H exm1314335 17 35601623 [A/G] NM_198838,NM_198834,NM_198836,NM_198839,NM_198837 ACACA,ACACA,ACACA,ACACA,ACACA EXON Missense_R760W,Missense_R875W,Missense_R838W,Missense_R838W,Missense_R780W exm1314367 17 35620739 [T/C] NM_198838,NM_198834,NM_198836,NM_198839,NM_198837 ACACA,ACACA,ACACA,ACACA,ACACA EXON Missense_R278H,Missense_R393H,Missense_R356H,Missense_R356H,Missense_R298H exm1314375 17 35631184 [T/C] NM_198838,NM_198834,NM_198836,NM_198839,NM_198837 ACACA,ACACA,ACACA,ACACA,ACACA EXON Missense_R188H,Missense_R303H,Missense_R266H,Missense_R266H,Missense_R208H exm1314393 17 35687137 [T/A] NM_198834,NM_198836,NM_198839 ACACA,ACACA,ACACA EXON Missense_Q105L,Missense_Q68L,Missense_Q68L exm1314402 17 35733072 [T/C] NM_198834,NM_198839,NM_173625 ACACA,ACACA,C17orf78 EXON Silent,Silent,Missense_S13F exm1314409 17 35734873 [A/G] NM_198834,NM_198839,NM_173625 ACACA,ACACA,C17orf78 EXON Silent,Silent,Missense_V39M exm1314418 17 35736240 [A/G] NM_198834,NM_198839,NM_173625 ACACA,ACACA,C17orf78 EXON Silent,Silent,Missense_R104H exm1314423 17 35743010 [C/G] NM_198834,NM_198839,NM_173625 ACACA,ACACA,C17orf78 EXON Silent,Silent,Missense_T152S exm1314426 17 35746196 [A/G] NM_198834,NM_198839,NM_173625 ACACA,ACACA,C17orf78 EXON Silent,Silent,Missense_A217T exm1314440 17 35771468 [T/C] NM_001166105,NM_133439,NM_001488 TADA2A,TADA2A,TADA2A EXON Missense_P6S,Missense_P6S,Missense_P6S exm1314455 17 35800754 [T/C] NM_001166105,NM_133439,NM_001488 TADA2A,TADA2A,TADA2A EXON Missense_P145S,Missense_P145S,Missense_P145S exm1314466 17 35822186 [A/G] NM_001166105,NM_133439,NM_001488 TADA2A,TADA2A,TADA2A EXON Missense_I225V,Missense_I225V,Missense_I225V exm1314471 17 35825625 [A/G] NM_001166105,NM_133439,NM_001488 TADA2A,TADA2A,TADA2A EXON Missense_K268R,Missense_K268R,Missense_K268R exm1314472 17 35825642 [A/G] NM_001166105,NM_133439,NM_001488 TADA2A,TADA2A,TADA2A EXON Missense_A274T,Missense_A274T,Missense_A274T exm1314482 17 35830554 [A/C] NM_001166105,NM_001488 TADA2A,TADA2A EXON Missense_K316Q,Missense_K316Q exm1314487 17 35831222 [T/G] NM_001166105,NM_001488 TADA2A,TADA2A EXON Missense_I351M,Missense_I351M exm1883256 17 35836990 [A/G] NM_001166105,NM_001488 TADA2A,TADA2A EXON Missense_R412K,Missense_R412K exm-rs712039 17 35850553 [T/C] NM_007026 DUSP14 Silent exm1314500 17 35872409 [T/C] NM_007026 DUSP14 EXON Missense_T12I exm1314527 17 35872924 [A/G] NM_007026 DUSP14 EXON Missense_V184I exm1314549 17 35896125 [T/C] NM_080550,NM_001163545,NM_001163547,NM_001163546,NM_007247,NM_198882,NM_001163544 SYNRG,SYNRG,SYNRG,SYNRG,SYNRG,SYNRG,SYNRG EXON Missense_V1130I,Missense_V1129I,Missense_V1002I,Missense_V1085I,Missense_V1208I,Missense_V1130I,Missense_V1130I exm2272512 17 35898342 [T/G] NM_080550,NM_001163545,NM_001163547,NM_001163546,NM_007247,NM_198882,NM_001163544 SYNRG,SYNRG,SYNRG,SYNRG,SYNRG,SYNRG,SYNRG Silent,Silent,Silent,Silent,Silent,Silent,Silent exm1314567 17 35902140 [T/C] NM_080550,NM_001163545,NM_001163547,NM_001163546,NM_007247,NM_198882,NM_001163544 SYNRG,SYNRG,SYNRG,SYNRG,SYNRG,SYNRG,SYNRG EXON Missense_S968G,Missense_S967G,Missense_S840G,Missense_S923G,Missense_S1046G,Missense_S968G,Missense_S968G exm1314576 17 35902287 [C/G] NM_080550,NM_001163545,NM_001163547,NM_001163546,NM_007247,NM_198882,NM_001163544 SYNRG,SYNRG,SYNRG,SYNRG,SYNRG,SYNRG,SYNRG EXON Missense_E919Q,Missense_E918Q,Missense_E791Q,Missense_E874Q,Missense_E997Q,Missense_E919Q,Missense_E919Q exm1314578 17 35902316 [T/G] NM_080550,NM_001163545,NM_001163547,NM_001163546,NM_007247,NM_198882,NM_001163544 SYNRG,SYNRG,SYNRG,SYNRG,SYNRG,SYNRG,SYNRG EXON Missense_D909A,Missense_D908A,Missense_D781A,Missense_D864A,Missense_D987A,Missense_D909A,Missense_D909A exm1314580 17 35902380 [T/C] NM_080550,NM_001163545,NM_001163547,NM_001163546,NM_007247,NM_198882,NM_001163544 SYNRG,SYNRG,SYNRG,SYNRG,SYNRG,SYNRG,SYNRG EXON Missense_S888G,Missense_S887G,Missense_S760G,Missense_S843G,Missense_S966G,Missense_S888G,Missense_S888G exm1314581 17 35902386 [A/G] NM_080550,NM_001163545,NM_001163547,NM_001163546,NM_007247,NM_198882,NM_001163544 SYNRG,SYNRG,SYNRG,SYNRG,SYNRG,SYNRG,SYNRG EXON Missense_L886F,Missense_L885F,Missense_L758F,Missense_L841F,Missense_L964F,Missense_L886F,Missense_L886F exm1314587 17 35902433 [A/G] NM_080550,NM_001163545,NM_001163547,NM_001163546,NM_007247,NM_198882,NM_001163544 SYNRG,SYNRG,SYNRG,SYNRG,SYNRG,SYNRG,SYNRG EXON Missense_T870M,Missense_T869M,Missense_T742M,Missense_T825M,Missense_T948M,Missense_T870M,Missense_T870M exm1314589 17 35902503 [T/C] NM_080550,NM_001163545,NM_001163547,NM_001163546,NM_007247,NM_198882,NM_001163544 SYNRG,SYNRG,SYNRG,SYNRG,SYNRG,SYNRG,SYNRG EXON Missense_I847V,Missense_I846V,Missense_I719V,Missense_I802V,Missense_I925V,Missense_I847V,Missense_I847V exm1314591 17 35902518 [A/G] NM_080550,NM_001163545,NM_001163547,NM_001163546,NM_007247,NM_198882,NM_001163544 SYNRG,SYNRG,SYNRG,SYNRG,SYNRG,SYNRG,SYNRG EXON Missense_P842S,Missense_P841S,Missense_P714S,Missense_P797S,Missense_P920S,Missense_P842S,Missense_P842S exm1314593 17 35902575 [T/C] NM_080550,NM_001163545,NM_001163547,NM_001163546,NM_007247,NM_198882,NM_001163544 SYNRG,SYNRG,SYNRG,SYNRG,SYNRG,SYNRG,SYNRG EXON Missense_D823N,Missense_D822N,Silent,Silent,Missense_D901N,Missense_D823N,Missense_D823N exm1314597 17 35902648 [A/C] NM_080550,NM_001163545,NM_001163547,NM_001163546,NM_007247,NM_198882,NM_001163544 SYNRG,SYNRG,SYNRG,SYNRG,SYNRG,SYNRG,SYNRG EXON Nonsense_Y798X,Nonsense_Y797X,Silent,Silent,Nonsense_Y876X,Nonsense_Y798X,Nonsense_Y798X exm1314604 17 35913427 [A/C] NM_080550,NM_001163545,NM_001163547,NM_001163546,NM_007247,NM_198882,NM_001163544 SYNRG,SYNRG,SYNRG,SYNRG,SYNRG,SYNRG,SYNRG EXON Missense_F722V,Missense_F721V,Missense_F639V,Missense_F722V,Missense_F800V,Missense_F722V,Missense_F722V exm1314605 17 35913442 [T/C] NM_080550,NM_001163545,NM_001163547,NM_001163546,NM_007247,NM_198882,NM_001163544 SYNRG,SYNRG,SYNRG,SYNRG,SYNRG,SYNRG,SYNRG EXON Missense_E717K,Missense_E716K,Missense_E634K,Missense_E717K,Missense_E795K,Missense_E717K,Missense_E717K exm1314607 17 35913459 [A/G] NM_080550,NM_001163545,NM_001163547,NM_001163546,NM_007247,NM_198882,NM_001163544 SYNRG,SYNRG,SYNRG,SYNRG,SYNRG,SYNRG,SYNRG EXON Missense_S711L,Missense_S710L,Missense_S628L,Missense_S711L,Missense_S789L,Missense_S711L,Missense_S711L exm1314616 17 35913589 [T/C] NM_080550,NM_001163545,NM_001163547,NM_001163546,NM_007247,NM_198882,NM_001163544 SYNRG,SYNRG,SYNRG,SYNRG,SYNRG,SYNRG,SYNRG EXON Missense_D668N,Missense_D667N,Missense_D585N,Missense_D668N,Missense_D746N,Missense_D668N,Missense_D668N exm1314621 17 35913661 [T/C] NM_080550,NM_001163545,NM_001163547,NM_001163546,NM_007247,NM_198882,NM_001163544 SYNRG,SYNRG,SYNRG,SYNRG,SYNRG,SYNRG,SYNRG EXON Missense_V644I,Missense_V643I,Missense_V561I,Missense_V644I,Missense_V722I,Missense_V644I,Missense_V644I exm1314623 17 35913721 [T/C] NM_080550,NM_001163545,NM_001163547,NM_001163546,NM_007247,NM_198882,NM_001163544 SYNRG,SYNRG,SYNRG,SYNRG,SYNRG,SYNRG,SYNRG EXON Missense_I624V,Missense_I623V,Missense_I541V,Missense_I624V,Missense_I702V,Missense_I624V,Missense_I624V exm1883305 17 35913835 [A/G] NM_080550,NM_001163545,NM_001163547,NM_001163546,NM_007247,NM_198882,NM_001163544 SYNRG,SYNRG,SYNRG,SYNRG,SYNRG,SYNRG,SYNRG EXON Missense_S586P,Missense_S585P,Missense_S503P,Missense_S586P,Missense_S664P,Missense_S586P,Missense_S586P exm1314626 17 35913918 [A/G] NM_080550,NM_001163545,NM_001163547,NM_001163546,NM_007247,NM_198882,NM_001163544 SYNRG,SYNRG,SYNRG,SYNRG,SYNRG,SYNRG,SYNRG EXON Missense_V558A,Missense_V557A,Missense_V475A,Missense_V558A,Missense_V636A,Missense_V558A,Missense_V558A exm1314629 17 35914027 [T/C] NM_080550,NM_001163545,NM_001163547,NM_001163546,NM_007247,NM_198882,NM_001163544 SYNRG,SYNRG,SYNRG,SYNRG,SYNRG,SYNRG,SYNRG EXON Missense_I522V,Missense_I521V,Missense_I439V,Missense_I522V,Missense_I600V,Missense_I522V,Missense_I522V exm1314630 17 35914030 [T/C] NM_080550,NM_001163545,NM_001163547,NM_001163546,NM_007247,NM_198882,NM_001163544 SYNRG,SYNRG,SYNRG,SYNRG,SYNRG,SYNRG,SYNRG EXON Missense_T521A,Missense_T520A,Missense_T438A,Missense_T521A,Missense_T599A,Missense_T521A,Missense_T521A exm1314661 17 35932057 [T/C] NM_080550,NM_001163545,NM_001163547,NM_001163546,NM_007247,NM_198882,NM_001163544 SYNRG,SYNRG,SYNRG,SYNRG,SYNRG,SYNRG,SYNRG EXON Missense_M233V,Missense_M232V,Missense_M233V,Missense_M233V,Missense_M311V,Missense_M233V,Missense_M233V exm1314668 17 35937577 [T/C] NM_080550,NM_001163545,NM_001163547,NM_001163546,NM_007247,NM_198882,NM_001163544 SYNRG,SYNRG,SYNRG,SYNRG,SYNRG,SYNRG,SYNRG EXON Silent,Silent,Silent,Silent,Missense_M242V,Silent,Silent exm1314669 17 35937637 [T/C] NM_080550,NM_001163545,NM_001163547,NM_001163546,NM_007247,NM_198882,NM_001163544 SYNRG,SYNRG,SYNRG,SYNRG,SYNRG,SYNRG,SYNRG EXON Silent,Silent,Silent,Silent,Missense_T222A,Silent,Silent exm1314687 17 35946626 [A/G] NM_080550,NM_001163545,NM_001163547,NM_001163546,NM_007247,NM_198882,NM_001163544 SYNRG,SYNRG,SYNRG,SYNRG,SYNRG,SYNRG,SYNRG EXON Missense_A91V,Missense_A90V,Missense_A91V,Missense_A91V,Missense_A91V,Missense_A91V,Missense_A91V exm1314694 17 35956391 [C/G] NM_080550,NM_001163545,NM_001163547,NM_001163546,NM_007247,NM_198882,NM_001163544 SYNRG,SYNRG,SYNRG,SYNRG,SYNRG,SYNRG,SYNRG EXON Missense_A40G,Silent,Missense_A40G,Missense_A40G,Missense_A40G,Missense_A40G,Missense_A40G exm1314706 17 35979871 [T/A] NM_007010 DDX52 EXON Missense_I531L exm1314707 17 35979874 [T/C] NM_007010 DDX52 EXON Missense_V530I exm1314710 17 35981196 [A/C] NM_007010 DDX52 EXON Missense_S493A exm1314713 17 35981285 [A/G] NM_007010 DDX52 EXON Missense_I463T exm1883363 17 35981317 [A/C] NM_007010 DDX52 EXON Missense_D452E exm1314718 17 35984409 [A/G] NM_007010 DDX52 EXON Missense_M403T exm1314719 17 35984410 [T/C] NM_007010 DDX52 EXON Missense_M403V exm1314726 17 35985983 [T/C] NM_007010 DDX52 EXON Missense_K365R exm1314730 17 35986052 [G/C] NM_007010 DDX52 EXON Missense_C342S exm1314740 17 35986859 [T/C] NM_007010 DDX52 EXON Missense_D303N exm1314746 17 35986889 [T/G] NM_007010 DDX52 EXON Missense_P293T exm1314747 17 35988631 [A/G] NM_007010 DDX52 EXON Missense_F278S exm1883376 17 35988706 [T/C] NM_007010 DDX52 EXON Missense_E253G exm1314750 17 35988707 [T/C] NM_007010 DDX52 EXON Missense_E253K exm1314752 17 35990116 [T/C] NM_007010 DDX52 EXON Missense_A231T exm1314753 17 35990199 [T/C] NM_007010 DDX52 EXON Missense_R203Q exm1314762 17 35992262 [T/C] NM_007010 DDX52 EXON Missense_T162A exm1314767 17 35993317 [T/C] NM_007010 DDX52 Silent exm1314773 17 35993374 [G/C] NM_007010 DDX52 EXON Missense_V121L exm1883385 17 36002150 [A/G] NM_007010 DDX52 EXON Missense_T92M exm1314789 17 36003398 [T/C] NM_007010 DDX52 EXON Missense_T18A exm1314796 17 36003436 [T/C] NM_007010 DDX52 EXON Missense_D5G exm1314808 17 36059141 [T/C] NM_000458,NM_001165923 HNF1B,HNF1B EXON Missense_M532V,Missense_M506V exm1314823 17 36070609 [T/C] NM_000458,NM_001165923 HNF1B,HNF1B EXON Missense_G370S,Missense_G344S exm1314828 17 36091625 [C/G] NM_000458,NM_001165923 HNF1B,HNF1B EXON Missense_H336D,Missense_H310D exm-rs4430796 17 36098040 [A/G] NM_000458,NM_001165923 HNF1B,HNF1B Silent,Silent exm-rs7501939 17 36101156 [T/C] NM_000458,NM_001165923 HNF1B,HNF1B Silent,Silent exm1314853 17 36104632 [T/C] NM_000458,NM_001165923 HNF1B,HNF1B EXON Missense_D82N,Missense_D82N exm1314855 17 36104650 [A/C] NM_000458,NM_001165923 HNF1B,HNF1B EXON Missense_G76C,Missense_G76C exm2226193 17 36104685 [G/C] NM_000458,NM_001165923 HNF1B,HNF1B EXON Missense_T64S,Missense_T64S exm1314856 17 36104694 [A/C] NM_000458,NM_001165923 HNF1B,HNF1B EXON Missense_V61G,Missense_V61G exm1314859 17 36104803 [A/C] NM_000458,NM_001165923 HNF1B,HNF1B EXON Missense_V25L,Missense_V25L exm-rs6607302 17 36194230 [T/C] exm2226199 17 36455348 [T/G] NM_032351 MRPL45 EXON Missense_E92D exm1314956 17 36455359 [A/G] NM_032351 MRPL45 EXON Missense_R96H exm2277114 17 36455359 [T/G] NM_032351 MRPL45 EXON Missense_R96L exm1314958 17 36455390 [A/G] NM_032351 MRPL45 EXON Missense_I106M exm2226201 17 36455434 [A/C] NM_032351 MRPL45 EXON Nonsense_S121X exm1314969 17 36476625 [A/C] NM_032351 MRPL45 EXON Missense_I212L exm1883490 17 36476634 [T/C] NM_032351 MRPL45 EXON Missense_R215C exm1314971 17 36476646 [T/C] NM_032351 MRPL45 EXON Missense_R219W exm1314973 17 36478028 [A/G] NM_032351 MRPL45 EXON Missense_R227Q exm1314978 17 36478144 [A/G] NM_032351 MRPL45 EXON Missense_V266I exm1314979 17 36478163 [G/C] NM_032351 MRPL45 EXON Missense_P272R exm2274927 17 36478172 [T/C] NM_032351 MRPL45 EXON Missense_P275L exm1314983 17 36478407 [A/G] NM_032351 MRPL45 EXON Missense_G284S exm1314986 17 36478450 [T/G] NM_032351 MRPL45 EXON Missense_G298V exm1314987 17 36478478 [A/C] NM_032351 MRPL45 EXON Missense_X307C exm1883500 17 36482628 [A/G] NM_001004334 GPR179 EXON Missense_L2275P exm1883501 17 36482654 [A/C] NM_001004334 GPR179 EXON Missense_F2266L exm1315000 17 36482691 [A/G] NM_001004334 GPR179 EXON Missense_S2254F exm1315003 17 36482742 [A/G] NM_001004334 GPR179 EXON Missense_T2237I exm1315006 17 36482811 [A/G] NM_001004334 GPR179 EXON Missense_M2214T exm1315007 17 36482922 [C/G] NM_001004334 GPR179 EXON Missense_R2177T exm1315010 17 36482977 [T/C] NM_001004334 GPR179 EXON Missense_K2159E exm1315019 17 36483181 [T/G] NM_001004334 GPR179 EXON Missense_P2091T exm1315020 17 36483280 [T/G] NM_001004334 GPR179 EXON Missense_P2058T exm1883506 17 36483327 [T/C] NM_001004334 GPR179 EXON Missense_Q2042R exm1315026 17 36483477 [T/C] NM_001004334 GPR179 EXON Missense_G1992D exm1315028 17 36483522 [T/G] NM_001004334 GPR179 EXON Missense_P1977H exm1315029 17 36483525 [T/C] NM_001004334 GPR179 EXON Missense_R1976H exm1315030 17 36483547 [T/C] NM_001004334 GPR179 EXON Missense_V1969I exm1315039 17 36483640 [T/C] NM_001004334 GPR179 EXON Missense_D1938N exm1883511 17 36483792 [T/G] NM_001004334 GPR179 EXON Missense_Q1887P exm1315044 17 36483846 [T/G] NM_001004334 GPR179 EXON Missense_Q1869P exm1315045 17 36483847 [G/C] NM_001004334 GPR179 EXON Missense_Q1869E exm1315047 17 36483889 [C/G] NM_001004334 GPR179 EXON Missense_L1855V exm1315051 17 36484036 [T/C] NM_001004334 GPR179 EXON Missense_A1806T exm1315055 17 36484070 [T/C] NM_001004334 GPR179 EXON Missense_M1794I exm1315057 17 36484108 [T/C] NM_001004334 GPR179 EXON Missense_D1782N exm1315064 17 36484363 [A/C] NM_001004334 GPR179 EXON Missense_L1697V exm1315065 17 36484369 [T/C] NM_001004334 GPR179 EXON Missense_E1695K exm1315071 17 36484462 [A/G] NM_001004334 GPR179 EXON Missense_R1664C exm1883515 17 36484564 [C/G] NM_001004334 GPR179 EXON Missense_E1630Q exm1883516 17 36484627 [A/G] NM_001004334 GPR179 EXON Nonsense_Q1609X exm1315082 17 36484743 [A/G] NM_001004334 GPR179 EXON Missense_T1570M exm1883520 17 36485071 [C/G] NM_001004334 GPR179 EXON Missense_E1461Q exm1315095 17 36485074 [T/C] NM_001004334 GPR179 EXON Missense_A1460T exm1315098 17 36485146 [A/G] NM_001004334 GPR179 EXON Missense_R1436W exm1315105 17 36485311 [A/G] NM_001004334 GPR179 EXON Missense_C1381R exm1315107 17 36485401 [A/C] NM_001004334 GPR179 EXON Missense_D1351Y exm1315115 17 36485473 [T/C] NM_001004334 GPR179 EXON Missense_D1327N exm1315116 17 36485482 [T/C] NM_001004334 GPR179 EXON Missense_E1324K exm1315124 17 36485571 [T/C] NM_001004334 GPR179 EXON Missense_R1294Q exm1315126 17 36485605 [A/G] NM_001004334 GPR179 EXON Missense_P1283S exm1315128 17 36485693 [T/C] NM_001004334 GPR179 EXON Synonymous_T1253T exm2252966 17 36485693 [T/C] NM_001004334 GPR179 EXON Synonymous_T1253T exm1315133 17 36485772 [T/C] NM_001004334 GPR179 EXON Missense_K1227R exm1315134 17 36485779 [T/G] NM_001004334 GPR179 EXON Missense_L1225M exm1315136 17 36485883 [T/C] NM_001004334 GPR179 EXON Missense_R1190Q exm1315145 17 36485998 [A/G] NM_001004334 GPR179 EXON Missense_S1152P exm1315146 17 36486004 [T/C] NM_001004334 GPR179 EXON Missense_K1150E exm1315151 17 36486070 [A/G] NM_001004334 GPR179 EXON Nonsense_R1128X exm1315152 17 36486096 [A/G] NM_001004334 GPR179 EXON Missense_A1119V exm1315156 17 36486307 [T/C] NM_001004334 GPR179 EXON Missense_A1049T exm1315163 17 36486528 [T/G] NM_001004334 GPR179 EXON Missense_A975D exm1315167 17 36486721 [T/C] NM_001004334 GPR179 EXON Missense_V911M exm1315170 17 36486802 [A/G] NM_001004334 GPR179 EXON Missense_R884W exm1315171 17 36486813 [T/G] NM_001004334 GPR179 EXON Missense_A880D exm1315173 17 36486838 [A/G] NM_001004334 GPR179 EXON Missense_R872W exm1315174 17 36486848 [G/C] NM_001004334 GPR179 EXON Missense_E868D exm1315183 17 36486964 [T/G] NM_001004334 GPR179 EXON Missense_P830T exm1315184 17 36487039 [C/G] NM_001004334 GPR179 EXON Missense_E805Q exm1315185 17 36487042 [A/G] NM_001004334 GPR179 EXON Missense_R804W exm1315188 17 36487104 [A/G] NM_001004334 GPR179 EXON Missense_P783L exm1315201 17 36489136 [A/G] NM_001004334 GPR179 EXON Missense_R679W exm1315217 17 36490648 [A/G] NM_001004334 GPR179 EXON Missense_R575C exm1315221 17 36490677 [T/C] NM_001004334 GPR179 EXON Missense_R565Q exm1315224 17 36490966 [T/C] NM_001004334 GPR179 EXON Missense_R532H exm1315227 17 36491033 [T/C] NM_001004334 GPR179 EXON Missense_V510M exm1315237 17 36492877 [T/C] NM_001004334 GPR179 EXON Missense_R404H exm1315238 17 36492878 [A/G] NM_001004334 GPR179 EXON Missense_R404C exm1315242 17 36492955 [A/G] NM_001004334 GPR179 EXON Missense_A378V exm1315247 17 36493058 [T/C] NM_001004334 GPR179 EXON Missense_G344R exm1315249 17 36493067 [T/C] NM_001004334 GPR179 EXON Missense_G341R exm2272588 17 36493203 [T/C] NM_001004334 GPR179 Silent exm1315254 17 36493531 [T/C] NM_001004334 GPR179 EXON Missense_A326T exm1315259 17 36493586 [T/A] NM_001004334 GPR179 EXON Missense_S307R exm1315265 17 36495389 [T/C] NM_001004334 GPR179 EXON Missense_V272I exm1315269 17 36498948 [T/C] NM_001004334 GPR179 EXON Missense_R242Q exm1315271 17 36498955 [A/G] NM_001004334 GPR179 EXON Missense_R240W exm1315272 17 36498982 [A/G] NM_001004334 GPR179 EXON Missense_P231S exm1315278 17 36499019 [A/C] NM_001004334 GPR179 EXON Missense_D218E exm1315281 17 36499045 [T/C] NM_001004334 GPR179 EXON Missense_G210S exm1315287 17 36499165 [G/C] NM_001004334 GPR179 EXON Missense_G170R exm1315293 17 36499270 [A/G] NM_001004334 GPR179 EXON Missense_R135C exm1315298 17 36499498 [T/C] NM_001004334 GPR179 EXON Missense_A59T exm1315299 17 36499509 [T/C] NM_001004334 GPR179 EXON Missense_G55E exm1315302 17 36499599 [T/G] NM_001004334 GPR179 EXON Missense_A25D exm1315340 17 36521269 [T/C] NM_014598 SOCS7 EXON Missense_P346L exm1315360 17 36552190 [A/G] NM_014598 SOCS7 EXON Missense_K572R exm2252967 17 36612948 [A/C] NM_001199417 ARHGAP23 Silent exm1315364 17 36614485 [T/C] NM_001199417 ARHGAP23 EXON Missense_S68L exm-rs16965350 17 36614563 [T/C] NM_001199417 ARHGAP23 Silent exm1315367 17 36619176 [T/C] NM_001199417 ARHGAP23 EXON Missense_R115C exm1315387 17 36623095 [T/G] NM_001199417 ARHGAP23 EXON Missense_A391S exm1315392 17 36623183 [A/G] NM_001199417 ARHGAP23 EXON Missense_R420Q exm1315401 17 36623507 [A/G] NM_001199417 ARHGAP23 EXON Missense_R528H exm1315448 17 36700069 [T/C] NM_025248 SRCIN1 EXON Missense_A1136T exm1315460 17 36704828 [T/C] NM_025248 SRCIN1 EXON Missense_E1079K exm1315469 17 36707480 [A/G] NM_025248 SRCIN1 EXON Missense_P958L exm1315474 17 36708145 [T/C] NM_025248 SRCIN1 EXON Missense_V902M exm1315477 17 36708225 [T/C] NM_025248 SRCIN1 EXON Missense_S875N exm1315481 17 36708277 [T/C] NM_025248 SRCIN1 EXON Missense_V858M exm1315497 17 36714562 [A/G] NM_025248 SRCIN1 EXON Missense_A701V exm1315506 17 36715896 [T/C] NM_025248 SRCIN1 EXON Missense_M650I exm1315536 17 36719593 [A/C] NM_025248 SRCIN1 EXON Missense_A236S exm1315564 17 36761945 [T/G] NM_025248 SRCIN1 EXON Missense_P5Q exm1315601 17 36868121 [A/G] NM_005937 MLLT6 EXON Missense_G192R exm1883711 17 36868162 [C/G] NM_005937 MLLT6 EXON Missense_M205I exm1315622 17 36871936 [G/C] NM_005937 MLLT6 EXON Missense_E297D exm1315626 17 36872024 [A/G] NM_005937 MLLT6 EXON Missense_A327T exm1315636 17 36872922 [T/G] NM_005937 MLLT6 EXON Missense_A447S exm1315661 17 36875827 [T/C] NM_005937 MLLT6 EXON Missense_L667P exm1315672 17 36876976 [G/C] NM_005937 MLLT6 EXON Missense_D806E exm1315690 17 36881009 [T/C] NM_005937 MLLT6 EXON Missense_A1007V exm1315700 17 36881820 [A/G] NM_005937 MLLT6 EXON Missense_K1084R exm1315704 17 36889541 [A/G] NM_001136498 CISD3 EXON Missense_G73S exm1315705 17 36889559 [T/C] NM_001136498 CISD3 EXON Missense_R79C exm1315709 17 36891573 [A/G] NM_001136498,NM_007144 CISD3,PCGF2 EXON Silent,Missense_A313V exm1315726 17 36892403 [G/C] NM_007144 PCGF2 EXON Missense_D199E exm2252968 17 36894803 [A/G] NM_007144 PCGF2 EXON Synonymous_D157D exm2276502 17 36896593 [A/G] NM_007144 PCGF2 EXON Synonymous_C21C exm1315783 17 36912149 [A/G] NM_002795 PSMB3 EXON Missense_K68E exm1315786 17 36912192 [T/C] NM_002795 PSMB3 EXON Missense_I82T exm1315794 17 36920386 [T/C] NM_002795 PSMB3 EXON Missense_I195T exm-rs1043515 17 36922196 [A/G] NM_003559 PIP4K2B EXON Silent exm1315832 17 36935737 [T/C] NM_003559 PIP4K2B EXON Missense_G185S exm1315840 17 36943098 [C/G] NM_003559 PIP4K2B EXON Missense_V79L exm1315854 17 36958425 [T/G] NM_017748,NR_073428 CWC25,CWC25 EXON Missense_L400M,Silent exm1315857 17 36959083 [A/G] NM_017748,NR_073428 CWC25,CWC25 EXON Missense_R345W,Silent exm1315860 17 36962560 [T/C] NM_017748,NR_073428 CWC25,CWC25 EXON Missense_G331R,Silent exm1315865 17 36962611 [T/C] NM_017748,NR_073428 CWC25,CWC25 EXON Missense_T314A,Silent exm1315869 17 36963060 [A/C] NM_017748,NR_073428 CWC25,CWC25 EXON Missense_R287L,Silent exm1315874 17 36963229 [A/C] NM_017748,NR_073428 CWC25,CWC25 EXON Missense_V231F,Silent exm1315878 17 36966754 [T/C] NM_017748,NR_073428 CWC25,CWC25 EXON Missense_R198H,Silent exm1315882 17 36971154 [T/C] NM_017748,NR_073428 CWC25,CWC25 EXON Missense_M130V,Silent exm1315907 17 36991482 [A/G] NM_001080465 C17orf98 EXON Missense_T142M exm1315914 17 36991576 [T/C] NM_001080465 C17orf98 EXON Missense_G111R exm1315924 17 36997461 [A/G] NM_001080465 C17orf98 EXON Missense_P61L exm1315926 17 36997503 [T/C] NM_001080465 C17orf98 EXON Missense_Q47R exm1315976 17 37054772 [T/C] NM_001271608,NR_073384,NM_006148 LASP1,LASP1,LASP1 EXON Synonymous_N63N,Silent,Synonymous_N119N exm2226223 17 37070726 [T/C] NM_001271608,NR_073384,NM_006148 LASP1,LASP1,LASP1 EXON Missense_P113L,Silent,Missense_P169L exm1315993 17 37071371 [T/C] NM_001271608,NR_073384,NM_006148 LASP1,LASP1,LASP1 EXON Missense_I139T,Silent,Missense_I195T exm2226224 17 37071377 [A/G] NM_001271608,NR_073384,NM_006148 LASP1,LASP1,LASP1 EXON Missense_R141H,Silent,Missense_R197H exm2226225 17 37071391 [C/G] NM_001271608,NR_073384,NM_006148 LASP1,LASP1,LASP1 EXON Missense_G146R,Silent,Missense_G202R exm2252969 17 37074932 [T/C] NM_001271608,NR_073384,NM_006148 LASP1,LASP1,LASP1 EXON Synonymous_I173I,Silent,Synonymous_I229I exm2273549 17 37075070 [A/G] NM_001271608,NR_073384,NM_006148 LASP1,LASP1,LASP1 EXON Silent,Silent,Silent exm1316011 17 37093490 [T/C] NM_001008777 FBXO47 EXON Missense_A433T exm1316014 17 37093510 [T/C] NM_001008777 FBXO47 EXON Missense_N426S exm1883896 17 37094917 [T/A] NM_001008777 FBXO47 EXON Missense_F384L exm1316019 17 37094938 [G/C] NM_001008777 FBXO47 EXON Missense_M377I exm1316027 17 37099137 [T/C] NM_001008777 FBXO47 EXON Missense_R326H exm1316033 17 37099981 [A/C] NM_001008777 FBXO47 EXON Missense_V268F exm1316035 17 37101228 [T/C] NM_001008777 FBXO47 EXON Missense_I260V exm1883905 17 37101367 [T/A] NM_001008777 FBXO47 EXON Missense_L213F exm1316042 17 37101380 [T/C] NM_001008777 FBXO47 EXON Missense_Q209R exm1316045 17 37107885 [T/C] NM_001008777 FBXO47 EXON Missense_E189K exm1883907 17 37107903 [T/C] NM_001008777 FBXO47 EXON Missense_V183I exm1316056 17 37118192 [T/C] NM_001008777 FBXO47 EXON Missense_H97R exm1316065 17 37119210 [T/A] NM_001008777 FBXO47 EXON Missense_Q23H exm1316067 17 37119223 [T/C] NM_001008777 FBXO47 EXON Missense_R19H exm1883913 17 37119275 [G/C] NM_001008777 FBXO47 EXON Missense_A2P exm2252970 17 37223126 [T/C] NR_036551,NM_020405 LOC100131347,PLXDC1 EXON Silent,Silent exm1316097 17 37224211 [T/C] NR_036551,NM_020405 LOC100131347,PLXDC1 EXON Silent,Missense_R462H exm1316098 17 37226111 [T/C] NR_036551,NM_020405 LOC100131347,PLXDC1 EXON Silent,Missense_E461K exm1316120 17 37235397 [T/C] NR_036551,NM_020405 LOC100131347,PLXDC1 EXON Silent,Missense_R337H exm1316128 17 37243901 [T/C] NM_020405 PLXDC1 EXON Missense_K289R exm1316131 17 37243923 [A/G] NM_020405 PLXDC1 EXON Missense_R282C exm1316133 17 37243938 [T/C] NM_020405 PLXDC1 EXON Missense_I277V exm1316134 17 37243943 [T/C] NM_020405 PLXDC1 EXON Missense_R275K exm2226228 17 37262137 [T/G] NM_020405 PLXDC1 EXON Missense_M261L exm1316165 17 37265180 [T/C] NM_020405 PLXDC1 EXON Missense_R149Q exm1316170 17 37265553 [T/C] NM_020405 PLXDC1 EXON Missense_R116Q exm1316175 17 37295935 [T/G] NM_020405 PLXDC1 EXON Missense_T76K exm1316179 17 37296025 [T/C] NM_020405 PLXDC1 EXON Missense_R46Q exm1316180 17 37296026 [A/G] NM_020405 PLXDC1 EXON Missense_R46W exm1316181 17 37296037 [A/C] NM_020405 PLXDC1 EXON Missense_R42L exm1883968 17 37296080 [T/C] NM_020405 PLXDC1 EXON Missense_D28N exm1316186 17 37316988 [T/C] NM_001143968 ARL5C EXON Missense_Q116R exm1316187 17 37317553 [A/G] NM_001143968 ARL5C EXON Missense_R103W exm1316193 17 37319029 [T/G] NM_001143968 ARL5C EXON Missense_M64L exm1316194 17 37319046 [A/G] NM_001143968 ARL5C EXON Missense_P58L exm1316196 17 37319065 [T/C] NM_001143968 ARL5C EXON Missense_V52M exm1316197 17 37319103 [T/C] NM_001143968 ARL5C EXON Missense_N39S exm1316199 17 37321339 [A/G] NM_001143968 ARL5C EXON Missense_Y34H exm1316200 17 37321347 [A/G] NM_001143968 ARL5C EXON Missense_T31I exm1316216 17 37331645 [A/C] NM_000723 CACNB1 EXON Missense_G533V exm1316219 17 37331775 [T/G] NM_000723 CACNB1 EXON Missense_T490P exm1316230 17 37334238 [A/G] NM_000723,NM_199248,NM_199247 CACNB1,CACNB1,CACNB1 EXON Missense_P382L,Missense_P382L,Missense_P427L exm1316244 17 37340373 [A/G] NM_000723,NM_199248,NM_199247 CACNB1,CACNB1,CACNB1 EXON Missense_T270M,Missense_T270M,Missense_T315M exm1316257 17 37342237 [A/G] NM_000723,NM_199248,NM_199247 CACNB1,CACNB1,CACNB1 EXON Silent,Silent,Missense_P250L exm1316258 17 37342289 [T/C] NM_000723,NM_199248,NM_199247 CACNB1,CACNB1,CACNB1 EXON Silent,Silent,Missense_G233S exm1316267 17 37343130 [A/G] NM_000723,NM_199248,NM_199247 CACNB1,CACNB1,CACNB1 EXON Missense_V156A,Missense_V156A,Missense_V156A exm2226232 17 37347839 [A/G] NM_000723,NM_199248,NM_199247 CACNB1,CACNB1,CACNB1 EXON Missense_A60V,Missense_A60V,Missense_A60V exm1316306 17 37360782 [T/C] NM_000981 RPL19 EXON Nonsense_Q158X exm1316327 17 37368613 [T/C] NM_198993 STAC2 EXON Missense_G390S exm1316336 17 37369337 [A/G] NM_198993 STAC2 EXON Missense_R348W exm1316345 17 37370522 [T/C] NM_198993 STAC2 EXON Missense_K302R exm1316362 17 37371246 [C/G] NM_198993 STAC2 EXON Missense_E244Q exm1316373 17 37371478 [T/C] NM_198993 STAC2 EXON Missense_S198G exm1316377 17 37373137 [T/C] NM_198993 STAC2 EXON Missense_R171H exm1316396 17 37374188 [A/G] NM_198993 STAC2 EXON Missense_L110P exm1316400 17 37374309 [A/G] NM_198993 STAC2 EXON Missense_P70S exm1316402 17 37374350 [A/G] NM_198993 STAC2 EXON Missense_S56L exm2268042 17 37387413 [A/G] exm1316417 17 37420492 [T/C] NM_032875,NM_001184906 FBXL20,FBXL20 EXON Missense_S380N,Missense_S348N exm1316424 17 37421669 [G/C] NM_032875,NM_001184906 FBXL20,FBXL20 EXON Missense_C324S,Missense_C292S exm1316431 17 37427083 [T/G] NM_032875,NM_001184906 FBXL20,FBXL20 EXON Missense_Q285P,Missense_Q253P exm1316437 17 37431274 [T/C] NM_032875,NM_001184906 FBXL20,FBXL20 EXON Missense_N259S,Missense_N227S exm-rs7208487 17 37543449 [T/G] NM_032875,NM_001184906 FBXL20,FBXL20 Silent,Silent exm1316476 17 37563789 [A/G] NM_004774 MED1 EXON Missense_P1562L exm1316478 17 37563838 [T/C] NM_004774 MED1 EXON Missense_M1546V exm1316480 17 37563969 [T/C] NM_004774 MED1 EXON Missense_K1502R exm1316483 17 37564003 [C/G] NM_004774 MED1 EXON Missense_E1491Q exm1316492 17 37564317 [G/C] NM_004774 MED1 EXON Missense_S1386T exm1316504 17 37564756 [T/C] NM_004774 MED1 EXON Missense_S1240G exm1316506 17 37564785 [C/G] NM_004774 MED1 EXON Missense_G1230A exm1316509 17 37564849 [T/C] NM_004774 MED1 EXON Missense_M1209V exm1316513 17 37564974 [A/G] NM_004774 MED1 EXON Missense_S1167F exm1316529 17 37565400 [T/C] NM_004774 MED1 EXON Missense_S1025N exm1316530 17 37565415 [T/C] NM_004774 MED1 EXON Missense_K1020R exm1316532 17 37565523 [A/G] NM_004774 MED1 EXON Missense_S984L exm1316536 17 37565662 [T/C] NM_004774 MED1 EXON Missense_G938S exm1316537 17 37565664 [A/G] NM_004774 MED1 EXON Missense_A937V exm1316542 17 37565919 [T/A] NM_004774 MED1 EXON Missense_D852V exm1316556 17 37566294 [T/C] NM_004774 MED1 EXON Missense_N727S exm1316563 17 37566454 [T/C] NM_004774 MED1 EXON Missense_G674S exm1316584 17 37576154 [A/C] NM_004774 MED1 EXON Missense_Q371H exm1316593 17 37580042 [T/C] NM_004774 MED1 EXON Missense_N295S exm1316603 17 37580985 [C/G] NM_004774 MED1 EXON Missense_R249P exm1316605 17 37583956 [T/C] NM_004774 MED1 EXON Missense_N246S exm1316634 17 37618584 [T/C] NM_016507,NM_015083 CDK12,CDK12 EXON Missense_M87T,Missense_M87T exm1884112 17 37619100 [A/G] NM_016507,NM_015083 CDK12,CDK12 EXON Missense_Y259C,Missense_Y259C exm2252971 17 37619290 [A/G] NM_016507,NM_015083 CDK12,CDK12 EXON Synonymous_R322R,Synonymous_R322R exm1316661 17 37627130 [A/G] NM_016507,NM_015083 CDK12,CDK12 Silent,Silent exm1884117 17 37627187 [A/T] NM_016507,NM_015083 CDK12,CDK12 EXON Missense_S368T,Missense_S368T exm1316674 17 37627424 [T/A] NM_016507,NM_015083 CDK12,CDK12 EXON Missense_L447I,Missense_L447I exm1316686 17 37627837 [T/G] NM_016507,NM_015083 CDK12,CDK12 EXON Missense_L584F,Missense_L584F exm1316699 17 37646866 [A/G] NM_016507,NM_015083 CDK12,CDK12 EXON Missense_R663H,Missense_R663H exm1316725 17 37676209 [T/C] NM_016507,NM_015083 CDK12,CDK12 EXON Synonymous_F988F,Synonymous_F988F exm1316743 17 37682375 [A/T] NM_016507,NM_015083 CDK12,CDK12 EXON Missense_L1189Q,Missense_L1189Q exm1316745 17 37682393 [T/C] NM_016507,NM_015083 CDK12,CDK12 EXON Missense_T1195M,Missense_T1195M exm1316755 17 37682533 [G/C] NM_016507,NM_015083 CDK12,CDK12 EXON Missense_R1242G,Missense_R1242G exm1316757 17 37686920 [T/C] NM_016507,NM_015083 CDK12,CDK12 EXON Missense_P1275L,Missense_P1266L exm1316758 17 37686935 [T/C] NM_016507,NM_015083 CDK12,CDK12 EXON Missense_P1280L,Missense_P1271L exm1316766 17 37687093 [T/C] NM_016507,NM_015083 CDK12,CDK12 EXON Missense_R1333C,Missense_R1324C exm1316772 17 37687178 [T/C] NM_016507,NM_015083 CDK12,CDK12 EXON Missense_A1361V,Missense_A1352V exm1316781 17 37687363 [A/G] NM_016507,NM_015083 CDK12,CDK12 EXON Missense_A1423T,Missense_A1414T exm1316786 17 37687522 [A/G] NM_016507,NM_015083 CDK12,CDK12 EXON Missense_T1476A,Missense_T1467A exm1316799 17 37762637 [A/C] NM_006160 NEUROD2 EXON Missense_E72D exm1316819 17 37786270 [T/C] NM_032192,NM_181505,NM_001242464 PPP1R1B,PPP1R1B,PPP1R1B EXON Missense_P71S,Missense_P35S,Missense_P35S exm1316833 17 37790272 [T/G] NM_032192,NM_181505,NM_001242464 PPP1R1B,PPP1R1B,PPP1R1B EXON Missense_E126D,Missense_E90D,Missense_E90D exm1316836 17 37791880 [A/G] NM_032192,NM_181505,NM_001242464 PPP1R1B,PPP1R1B,PPP1R1B EXON Missense_G156S,Missense_G120S,Missense_G120S exm1316840 17 37792090 [A/G] NM_032192,NM_181505,NM_001242464 PPP1R1B,PPP1R1B,PPP1R1B EXON Missense_R196H,Missense_R160H,Missense_R160H exm1316841 17 37792096 [A/C] NM_032192,NM_181505,NM_001242464 PPP1R1B,PPP1R1B,PPP1R1B EXON Missense_S198Y,Missense_S162Y,Missense_S162Y exm2226246 17 37809912 [A/G] NM_001165938,NM_001165937,NM_006804 STARD3,STARD3,STARD3 EXON Missense_R43Q,Missense_R43Q,Missense_R43Q exm1316857 17 37813262 [C/G] NM_001165938,NM_001165937,NM_006804 STARD3,STARD3,STARD3 EXON Missense_T74S,Missense_T74S,Missense_T74S exm1316858 17 37813288 [G/C] NM_001165938,NM_001165937,NM_006804 STARD3,STARD3,STARD3 EXON Missense_E83Q,Missense_E83Q,Missense_E83Q exm1316859 17 37813338 [T/C] NM_001165938,NM_001165937,NM_006804 STARD3,STARD3,STARD3 EXON Synonymous_F99F,Synonymous_F99F,Synonymous_F99F exm-rs11869286 17 37813856 [G/C] NM_001165938,NM_001165937,NM_006804 STARD3,STARD3,STARD3 Silent,Silent,Silent exm1316862 17 37814080 [A/G] NM_001165938,NM_001165937,NM_006804 STARD3,STARD3,STARD3 EXON Missense_R117Q,Missense_R117Q,Missense_R117Q exm1884217 17 37814086 [A/G] NM_001165938,NM_001165937,NM_006804 STARD3,STARD3,STARD3 EXON Missense_R119Q,Missense_R119Q,Missense_R119Q exm1316869 17 37814687 [A/G] NM_001165938,NM_001165937,NM_006804 STARD3,STARD3,STARD3 EXON Synonymous_L135L,Missense_C149Y,Synonymous_L153L exm1316877 17 37815304 [G/C] NM_001165938,NM_001165937,NM_006804 STARD3,STARD3,STARD3 EXON Missense_G198A,Missense_G216A,Missense_G216A exm1316878 17 37815305 [A/G] NM_001165938,NM_001165937,NM_006804 STARD3,STARD3,STARD3 EXON Synonymous_G198G,Synonymous_G216G,Synonymous_G216G exm1316899 17 37816702 [C/G] NM_001165938,NM_001165937,NM_006804 STARD3,STARD3,STARD3 EXON Missense_A275P,Missense_A293P,Missense_A293P exm1316911 17 37817254 [A/G] NM_001165938,NM_001165937,NM_006804 STARD3,STARD3,STARD3 EXON Missense_R334H,Missense_R352H,Missense_R352H exm1316924 17 37818556 [T/C] NM_001165938,NM_001165937,NM_006804 STARD3,STARD3,STARD3 EXON Missense_R380C,Missense_R398C,Missense_R398C exm1316925 17 37818557 [A/G] NM_001165938,NM_001165937,NM_006804 STARD3,STARD3,STARD3 EXON Missense_R380H,Missense_R398H,Missense_R398H exm2252973 17 37818561 [T/C] NM_001165938,NM_001165937,NM_006804 STARD3,STARD3,STARD3 EXON Synonymous_V381V,Synonymous_V399V,Synonymous_V399V exm1316926 17 37818561 [T/C] NM_001165938,NM_001165937,NM_006804 STARD3,STARD3,STARD3 EXON Synonymous_V381V,Synonymous_V399V,Synonymous_V399V exm1316931 17 37819132 [T/C] NM_001165938,NM_001165937,NM_006804 STARD3,STARD3,STARD3 EXON Missense_R419C,Missense_R437C,Missense_R437C exm1316932 17 37819150 [T/G] NM_001165938,NM_001165937,NM_006804 STARD3,STARD3,STARD3 EXON Missense_A425S,Missense_A443S,Missense_A443S exm1316933 17 37819153 [T/C] NM_001165938,NM_001165937,NM_006804 STARD3,STARD3,STARD3 EXON Missense_R426W,Missense_R444W,Missense_R444W exm1316943 17 37821709 [T/C] NM_003673 TCAP EXON Missense_R33W exm1316951 17 37822049 [T/C] NM_003673 TCAP EXON Missense_S64L exm1316961 17 37822171 [G/C] NM_003673 TCAP EXON Missense_E105Q exm1316962 17 37822174 [T/C] NM_003673 TCAP EXON Missense_R106C exm1316964 17 37822211 [T/C] NM_003673 TCAP EXON Missense_A118V exm1316968 17 37822316 [A/G] NM_003673 TCAP EXON Missense_R153H exm1316979 17 37825929 [A/G] NR_073461,NM_002686 PNMT,PNMT EXON Silent,Missense_V84M exm1316982 17 37825998 [T/C] NR_073461,NM_002686 PNMT,PNMT EXON Silent,Missense_R107C exm1316984 17 37826013 [T/C] NR_073461,NM_002686 PNMT,PNMT EXON Silent,Missense_R112C exm1316993 17 37826265 [A/G] NR_073461,NM_002686 PNMT,PNMT EXON Silent,Missense_D158N exm1316996 17 37826316 [A/G] NR_073461,NM_002686 PNMT,PNMT EXON Silent,Missense_A175T exm1316998 17 37826379 [T/C] NR_073461,NM_002686 PNMT,PNMT EXON Silent,Missense_R196W exm1316999 17 37826380 [A/G] NR_073461,NM_002686 PNMT,PNMT EXON Silent,Missense_R196Q exm1317003 17 37826452 [T/C] NR_073461,NM_002686 PNMT,PNMT EXON Silent,Missense_S220L exm1317007 17 37826537 [A/C] NR_073461,NM_002686 PNMT,PNMT EXON Silent,Nonsense_Y248X exm1317010 17 37826544 [T/C] NR_073461,NM_002686 PNMT,PNMT EXON Silent,Missense_R251W exm1317027 17 37829392 [T/G] NM_033419 PGAP3 EXON Missense_L271M exm1317031 17 37829460 [T/C] NM_033419 PGAP3 EXON Missense_R248Q exm1317037 17 37829778 [T/C] NM_033419 PGAP3 EXON Missense_N228S exm1317041 17 37829863 [A/G] NM_033419 PGAP3 EXON Missense_R200W exm1317046 17 37830282 [A/G] NM_033419 PGAP3 EXON Missense_T174I exm1317049 17 37830888 [C/G] NM_033419 PGAP3 EXON Missense_R159S exm1317052 17 37840860 [C/G] NM_033419 PGAP3 EXON Missense_A141G exm1317054 17 37840912 [A/G] NM_033419 PGAP3 EXON Missense_R124C exm2252974 17 37840967 [T/C] NM_033419 PGAP3 EXON Synonymous_P105P exm1317062 17 37842245 [T/A] NM_033419 PGAP3 EXON Missense_Y70F exm1317063 17 37842254 [T/C] NM_033419 PGAP3 EXON Missense_D67G exm1317066 17 37844144 [A/C] NM_033419 PGAP3 EXON Missense_S42A exm2252975 17 37853118 [A/G] NM_001005862 ERBB2 Silent exm1317078 17 37863269 [T/C] NM_001005862,NM_004448 ERBB2,ERBB2 EXON Missense_R4W,Missense_R34W exm1317081 17 37863309 [A/G] NM_001005862,NM_004448 ERBB2,ERBB2 EXON Missense_R17H,Missense_R47H exm1317082 17 37863339 [A/G] NM_001005862,NM_004448 ERBB2,ERBB2 EXON Missense_Q27R,Missense_Q57R exm1884314 17 37864776 [A/G] NM_001005862,NM_004448 ERBB2,ERBB2 EXON Missense_R113Q,Missense_R143Q exm1317098 17 37865586 [C/G] NM_001005862,NM_004448 ERBB2,ERBB2 EXON Missense_G122A,Missense_G152A exm2274929 17 37866641 [T/G] NM_001005862,NM_004448 ERBB2,ERBB2 EXON Missense_A240S,Missense_A270S exm2252976 17 37868618 [A/G] NM_001005862,NM_004448 ERBB2,ERBB2 EXON Synonymous_A325A,Synonymous_A355A exm1317127 17 37871547 [A/C] NM_001005862,NM_004448 ERBB2,ERBB2 EXON Missense_A356D,Missense_A386D exm1317136 17 37872035 [T/G] NM_001005862,NM_004448 ERBB2,ERBB2 EXON Missense_W422C,Missense_W452C exm1317143 17 37872145 [T/C] NM_001005862,NM_004448 ERBB2,ERBB2 EXON Missense_P459L,Missense_P489L exm1317146 17 37872168 [A/G] NM_001005862,NM_004448 ERBB2,ERBB2 EXON Missense_A467T,Missense_A497T exm1317149 17 37872607 [T/C] NM_001005862,NM_004448 ERBB2,ERBB2 EXON Missense_P493S,Missense_P523S exm1317152 17 37872647 [A/G] NM_001005862,NM_004448 ERBB2,ERBB2 EXON Missense_R506Q,Missense_R536Q exm1317168 17 37873733 [T/C] NM_001005862,NM_004448 ERBB2,ERBB2 EXON Missense_S603F,Missense_S633F exm1317176 17 37879585 [A/G] NM_001005862,NM_004448 ERBB2,ERBB2 EXON Missense_I624V,Missense_I654V exm1317177 17 37879588 [A/G] NM_001005862,NM_004448 ERBB2,ERBB2 EXON Missense_I625V,Missense_I655V exm1317212 17 37882020 [A/G] NM_001005862,NM_004448 ERBB2,ERBB2 EXON Missense_R899Q,Missense_R929Q exm1317213 17 37882024 [T/G] NM_001005862,NM_004448 ERBB2,ERBB2 EXON Missense_E900D,Missense_E930D exm1317219 17 37883141 [A/G] NM_001005862,NM_004448 ERBB2,ERBB2 EXON Missense_G985E,Missense_G1015E exm1317225 17 37883561 [A/C] NM_001005862,NM_004448 ERBB2,ERBB2 EXON Missense_D1028A,Missense_D1058A exm1317226 17 37883570 [T/C] NM_001005862,NM_004448 ERBB2,ERBB2 EXON Missense_L1031P,Missense_L1061P exm1317228 17 37883638 [T/G] NM_001005862,NM_004448 ERBB2,ERBB2 EXON Missense_D1054Y,Missense_D1084Y exm1317231 17 37883763 [A/T] NM_001005862,NM_004448 ERBB2,ERBB2 EXON Missense_D1095E,Missense_D1125E exm1317239 17 37884011 [A/G] NM_001005862,NM_004448 ERBB2,ERBB2 EXON Missense_R1131Q,Missense_R1161Q exm1317240 17 37884013 [T/C] NM_001005862,NM_004448 ERBB2,ERBB2 EXON Missense_P1132S,Missense_P1162S exm1317247 17 37884142 [T/C] NM_001005862,NM_004448 ERBB2,ERBB2 EXON Missense_P1175S,Missense_P1205S exm1317248 17 37884149 [T/C] NM_001005862,NM_004448 ERBB2,ERBB2 EXON Missense_P1177L,Missense_P1207L exm1317251 17 37884176 [A/C] NM_001005862,NM_004448 ERBB2,ERBB2 EXON Missense_A1186D,Missense_A1216D exm1317268 17 37886503 [C/G] NM_032339 MIEN1 EXON Missense_S44T exm1317286 17 37898705 [A/G] NM_005310,NM_001030002,NM_001242442,NM_001242443 GRB7,GRB7,GRB7,GRB7 EXON Missense_G51S,Missense_G51S,Missense_G74S,Missense_G51S exm1317308 17 37899206 [A/G] NM_005310,NM_001030002,NM_001242442,NM_001242443 GRB7,GRB7,GRB7,GRB7 EXON Missense_G121D,Missense_G121D,Missense_G144D,Missense_G121D exm1317316 17 37899280 [T/G] NM_005310,NM_001030002,NM_001242442,NM_001242443 GRB7,GRB7,GRB7,GRB7 EXON Missense_V146L,Missense_V146L,Missense_V169L,Missense_V146L exm2226257 17 37899652 [G/C] NM_005310,NM_001030002,NM_001242442,NM_001242443 GRB7,GRB7,GRB7,GRB7 EXON Missense_L198V,Missense_L198V,Missense_L221V,Missense_L198V exm1317332 17 37900378 [T/G] NM_005310,NM_001030002,NM_001242442,NM_001242443 GRB7,GRB7,GRB7,GRB7 EXON Missense_G240V,Missense_G240V,Missense_G263V,Missense_G240V exm1317343 17 37900864 [T/C] NM_005310,NM_001030002,NM_001242442,NM_001242443 GRB7,GRB7,GRB7,GRB7 EXON Missense_T287M,Missense_T287M,Missense_T310M,Missense_T287M exm1317346 17 37900873 [A/G] NM_005310,NM_001030002,NM_001242442,NM_001242443 GRB7,GRB7,GRB7,GRB7 EXON Missense_R290H,Missense_R290H,Missense_R313H,Missense_R290H exm1317351 17 37901172 [T/C] NM_005310,NM_001030002,NM_001242442,NM_001242443 GRB7,GRB7,GRB7,GRB7 EXON Missense_R316W,Missense_R316W,Missense_R339W,Missense_R316W exm1317352 17 37901202 [T/C] NM_005310,NM_001030002,NM_001242442,NM_001242443 GRB7,GRB7,GRB7,GRB7 EXON Missense_R326C,Missense_R326C,Missense_R349C,Missense_R326C exm1317362 17 37901539 [A/G] NM_005310,NM_001030002,NM_001242442,NM_001242443 GRB7,GRB7,GRB7,GRB7 EXON Missense_R352H,Missense_R352H,Missense_R375H,Missense_R352H exm1317363 17 37901569 [T/C] NM_005310,NM_001030002,NM_001242442,NM_001242443 GRB7,GRB7,GRB7,GRB7 EXON Missense_P362L,Missense_P362L,Missense_P385L,Missense_P362L exm1884415 17 37901729 [T/C] NM_005310,NM_001030002,NM_001242442,NM_001242443 GRB7,GRB7,GRB7,GRB7 EXON Missense_R383C,Missense_R383C,Missense_R406C,Missense_R383C exm1317372 17 37902027 [A/C] NM_005310,NM_001030002,NM_001242442,NM_001242443 GRB7,GRB7,GRB7,GRB7 EXON Missense_T419K,Missense_T419K,Missense_T442K,Missense_T419K exm1317378 17 37902199 [A/G] NM_005310,NM_001030002,NM_001242442,NM_001242443 GRB7,GRB7,GRB7,GRB7 EXON Missense_R435H,Missense_R435H,Missense_R458H,Missense_R435H exm1317383 17 37902373 [T/C] NM_005310,NM_001030002,NM_001242442,NM_001242443 GRB7,GRB7,GRB7,GRB7 EXON Missense_V457A,Missense_V457A,Missense_V480A,Missense_V457A exm1317404 17 37922198 [T/C] NR_047561,NM_012481,NM_001257411,NM_001257410,NM_001257413,NM_183229,NR_047559,NM_001257412,NM_183231,NM_001257408,NM_183230,NM_001257409,NM_183232,NR_047560,NM_183228,NM_001257414 IKZF3,IKZF3,IKZF3,IKZF3,IKZF3,IKZF3,IKZF3,IKZF3,IKZF3,IKZF3,IKZF3,IKZF3,IKZF3,IKZF3,IKZF3,IKZF3 EXON Silent,Missense_V459I,Missense_V316I,Missense_V372I,Missense_V238I,Missense_V420I,Silent,Missense_V277I,Missense_V364I,Missense_V425I,Missense_V420I,Missense_V386I,Missense_V381I,Silent,Missense_V403I,Missense_V325I exm-rs907092 17 37922259 [A/G] NR_047561,NM_012481,NM_001257411,NM_001257410,NM_001257413,NM_183229,NR_047559,NM_001257412,NM_183231,NM_001257408,NM_183230,NM_001257409,NM_183232,NR_047560,NM_183228,NM_001257414 IKZF3,IKZF3,IKZF3,IKZF3,IKZF3,IKZF3,IKZF3,IKZF3,IKZF3,IKZF3,IKZF3,IKZF3,IKZF3,IKZF3,IKZF3,IKZF3 EXON Silent,Synonymous_S438S,Synonymous_S295S,Synonymous_S351S,Synonymous_S217S,Synonymous_S399S,Silent,Synonymous_S256S,Synonymous_S343S,Synonymous_S404S,Synonymous_S399S,Synonymous_S365S,Synonymous_S360S,Silent,Synonymous_S382S,Synonymous_S304S exm1317412 17 37922295 [T/A] NR_047561,NM_012481,NM_001257411,NM_001257410,NM_001257413,NM_183229,NR_047559,NM_001257412,NM_183231,NM_001257408,NM_183230,NM_001257409,NM_183232,NR_047560,NM_183228,NM_001257414 IKZF3,IKZF3,IKZF3,IKZF3,IKZF3,IKZF3,IKZF3,IKZF3,IKZF3,IKZF3,IKZF3,IKZF3,IKZF3,IKZF3,IKZF3,IKZF3 EXON Silent,Missense_E426D,Missense_E283D,Missense_E339D,Missense_E205D,Missense_E387D,Silent,Missense_E244D,Missense_E331D,Missense_E392D,Missense_E387D,Missense_E353D,Missense_E348D,Silent,Missense_E370D,Missense_E292D exm1317414 17 37922339 [C/G] NR_047561,NM_012481,NM_001257411,NM_001257410,NM_001257413,NM_183229,NR_047559,NM_001257412,NM_183231,NM_001257408,NM_183230,NM_001257409,NM_183232,NR_047560,NM_183228,NM_001257414 IKZF3,IKZF3,IKZF3,IKZF3,IKZF3,IKZF3,IKZF3,IKZF3,IKZF3,IKZF3,IKZF3,IKZF3,IKZF3,IKZF3,IKZF3,IKZF3 EXON Silent,Missense_R412G,Missense_R269G,Missense_R325G,Missense_R191G,Missense_R373G,Silent,Missense_R230G,Missense_R317G,Missense_R378G,Missense_R373G,Missense_R339G,Missense_R334G,Silent,Missense_R356G,Missense_R278G exm1317423 17 37922495 [T/C] NR_047561,NM_012481,NM_001257411,NM_001257410,NM_001257413,NM_183229,NR_047559,NM_001257412,NM_183231,NM_001257408,NM_183230,NM_001257409,NM_183232,NR_047560,NM_183228,NM_001257414 IKZF3,IKZF3,IKZF3,IKZF3,IKZF3,IKZF3,IKZF3,IKZF3,IKZF3,IKZF3,IKZF3,IKZF3,IKZF3,IKZF3,IKZF3,IKZF3 EXON Silent,Missense_E360K,Missense_E217K,Missense_E273K,Missense_E139K,Missense_E321K,Silent,Missense_E178K,Missense_E265K,Missense_E326K,Missense_E321K,Missense_E287K,Missense_E282K,Silent,Missense_E304K,Missense_E226K exm1317444 17 37944519 [G/C] NM_012481,NM_001257411,NM_001257410,NM_001257413,NM_183229,NR_047559,NM_001257412,NM_183231,NM_001257408,NM_183230,NM_001257409,NM_183232,NR_047560,NM_183228,NM_001257414 IKZF3,IKZF3,IKZF3,IKZF3,IKZF3,IKZF3,IKZF3,IKZF3,IKZF3,IKZF3,IKZF3,IKZF3,IKZF3,IKZF3,IKZF3 EXON Missense_G234A,Missense_G91A,Missense_G147A,Silent,Silent,Silent,Silent,Silent,Missense_G200A,Missense_G234A,Silent,Silent,Silent,Missense_G178A,Silent exm1317450 17 37949034 [T/C] NM_012481,NM_001257411,NM_001257410,NM_001257413,NM_183229,NR_047559,NM_001257412,NM_183231,NM_001257408,NM_183230,NM_001257409,NM_183232,NR_047560,NM_183228,NM_001257414 IKZF3,IKZF3,IKZF3,IKZF3,IKZF3,IKZF3,IKZF3,IKZF3,IKZF3,IKZF3,IKZF3,IKZF3,IKZF3,IKZF3,IKZF3 EXON Missense_V106I,Silent,Silent,Silent,Missense_V106I,Silent,Silent,Missense_V106I,Missense_V72I,Missense_V106I,Missense_V72I,Missense_V106I,Silent,Missense_V106I,Missense_V106I exm-rs9303277 17 37976469 [T/C] NM_012481,NM_001257411,NM_001257410,NM_001257413,NM_183229,NR_047559,NM_001257412,NM_183231,NM_001257408,NM_183230,NM_001257409,NM_183232,NR_047560,NM_183228,NM_001257414 IKZF3,IKZF3,IKZF3,IKZF3,IKZF3,IKZF3,IKZF3,IKZF3,IKZF3,IKZF3,IKZF3,IKZF3,IKZF3,IKZF3,IKZF3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm1317463 17 37985732 [A/G] NM_012481,NM_001257411,NM_001257410,NM_001257413,NM_183229,NR_047559,NM_001257412,NM_183231,NM_001257408,NM_183230,NM_001257409,NM_183232,NR_047560,NM_183228,NM_001257414 IKZF3,IKZF3,IKZF3,IKZF3,IKZF3,IKZF3,IKZF3,IKZF3,IKZF3,IKZF3,IKZF3,IKZF3,IKZF3,IKZF3,IKZF3 EXON Missense_A24V,Missense_A24V,Missense_A24V,Missense_A24V,Missense_A24V,Silent,Missense_A24V,Missense_A24V,Silent,Missense_A24V,Silent,Missense_A24V,Silent,Missense_A24V,Missense_A24V exm1317488 17 38027030 [C/G] NM_198844,NM_199321 ZPBP2,ZPBP2 EXON Missense_P46A,Missense_P68A exm1317492 17 38027783 [C/G] NM_198844,NM_199321 ZPBP2,ZPBP2 EXON Missense_S82C,Missense_S104C exm1317495 17 38027824 [A/G] NM_198844,NM_199321 ZPBP2,ZPBP2 EXON Missense_A96T,Missense_A118T exm1884480 17 38028598 [A/G] NM_198844,NM_199321 ZPBP2,ZPBP2 EXON Missense_D139G,Missense_D161G exm1317501 17 38028634 [T/G] NM_198844,NM_199321 ZPBP2,ZPBP2 EXON Missense_S151I,Missense_S173I exm1317503 17 38028705 [T/C] NM_198844,NM_199321 ZPBP2,ZPBP2 EXON Missense_H175Y,Missense_H197Y exm1317505 17 38028731 [A/G] NM_198844,NM_199321 ZPBP2,ZPBP2 EXON Missense_I183M,Missense_I205M exm1317516 17 38031535 [A/G] NM_198844,NM_199321 ZPBP2,ZPBP2 EXON Missense_R224Q,Missense_R246Q exm1317519 17 38031564 [T/A] NM_198844,NM_199321 ZPBP2,ZPBP2 EXON Missense_F234I,Missense_F256I exm1317522 17 38031634 [A/G] NM_198844,NM_199321 ZPBP2,ZPBP2 EXON Missense_R257Q,Missense_R279Q exm1317523 17 38031648 [A/G] NM_198844,NM_199321 ZPBP2,ZPBP2 EXON Missense_K262E,Missense_K284E exm1317532 17 38033048 [G/C] NM_198844,NM_199321 ZPBP2,ZPBP2 EXON Missense_Q313E,Missense_Q335E exm-rs2872507 17 38040763 [A/G] exm-rs8067378 17 38051348 [A/G] exm1317535 17 38061072 [C/G] NM_001165959,NM_001042471,NM_001165958,NM_018530 GSDMB,GSDMB,GSDMB,GSDMB EXON Missense_S406C,Missense_S402C,Missense_S415C,Missense_S393C exm1317537 17 38061144 [T/G] NM_001165959,NM_001042471,NM_001165958,NM_018530 GSDMB,GSDMB,GSDMB,GSDMB EXON Missense_A382E,Missense_A378E,Missense_A391E,Missense_A369E exm1317546 17 38062139 [A/G] NM_001165959,NM_001042471,NM_001165958,NM_018530 GSDMB,GSDMB,GSDMB,GSDMB EXON Missense_R321C,Missense_R317C,Missense_R330C,Missense_R308C exm1317549 17 38062196 [A/G] NM_001165959,NM_001042471,NM_001165958,NM_018530 GSDMB,GSDMB,GSDMB,GSDMB EXON Missense_P302S,Missense_P298S,Missense_P311S,Missense_P289S exm1317550 17 38062217 [T/C] NM_001165959,NM_001042471,NM_001165958,NM_018530 GSDMB,GSDMB,GSDMB,GSDMB EXON Missense_G295R,Missense_G291R,Missense_G304R,Missense_G282R exm1317552 17 38062390 [T/C] NM_001165959,NM_001042471,NM_001165958,NM_018530 GSDMB,GSDMB,GSDMB,GSDMB EXON Missense_D279N,Missense_D275N,Missense_D288N,Missense_D266N exm1317555 17 38062422 [A/G] NM_001165959,NM_001042471,NM_001165958,NM_018530 GSDMB,GSDMB,GSDMB,GSDMB EXON Missense_L268P,Missense_L264P,Missense_L277P,Missense_L255P exm1317557 17 38062484 [A/C] NM_001165959,NM_001042471,NM_001165958,NM_018530 GSDMB,GSDMB,GSDMB,GSDMB EXON Missense_E247D,Missense_E243D,Missense_E256D,Missense_E234D exm1317558 17 38062503 [T/C] NM_001165959,NM_001042471,NM_001165958,NM_018530 GSDMB,GSDMB,GSDMB,GSDMB EXON Missense_D241G,Missense_D237G,Missense_D250G,Missense_D228G exm1317559 17 38062509 [A/G] NM_001165959,NM_001042471,NM_001165958,NM_018530 GSDMB,GSDMB,GSDMB,GSDMB EXON Missense_S239L,Missense_S235L,Missense_S248L,Missense_S226L exm1317562 17 38063233 [A/C] NM_001165959,NM_001042471,NM_001165958,NM_018530 GSDMB,GSDMB,GSDMB,GSDMB EXON Silent,Missense_D223E,Missense_D236E,Silent exm1317567 17 38064469 [T/C] NM_001165959,NM_001042471,NM_001165958,NM_018530 GSDMB,GSDMB,GSDMB,GSDMB Silent,Silent,Silent,Silent exm1317574 17 38066146 [A/G] NM_001165959,NM_001042471,NM_001165958,NM_018530 GSDMB,GSDMB,GSDMB,GSDMB EXON Nonsense_R147X,Nonsense_R147X,Nonsense_R147X,Nonsense_R147X exm-rs2290400 17 38066240 [T/C] NM_001165959,NM_001042471,NM_001165958,NM_018530 GSDMB,GSDMB,GSDMB,GSDMB Silent,Silent,Silent,Silent exm1317579 17 38068621 [T/C] NM_001165959,NM_001042471,NM_001165958,NM_018530 GSDMB,GSDMB,GSDMB,GSDMB EXON Missense_E122G,Missense_E122G,Missense_E122G,Missense_E122G exm1317581 17 38068708 [A/G] NM_001165959,NM_001042471,NM_001165958,NM_018530 GSDMB,GSDMB,GSDMB,GSDMB EXON Missense_T93M,Missense_T93M,Missense_T93M,Missense_T93M exm-rs7216389 17 38069949 [T/C] NM_001165959,NM_001042471,NM_001165958,NM_018530 GSDMB,GSDMB,GSDMB,GSDMB Silent,Silent,Silent,Silent exm1317583 17 38073337 [T/C] NM_001165959,NM_001042471,NM_001165958,NM_018530 GSDMB,GSDMB,GSDMB,GSDMB EXON Missense_Q78R,Missense_Q78R,Missense_Q78R,Missense_Q78R exm1317585 17 38073390 [T/G] NM_001165959,NM_001042471,NM_001165958,NM_018530 GSDMB,GSDMB,GSDMB,GSDMB EXON Missense_D60E,Missense_D60E,Missense_D60E,Missense_D60E exm1317598 17 38073536 [A/C] NM_001165959,NM_001042471,NM_001165958,NM_018530 GSDMB,GSDMB,GSDMB,GSDMB EXON Missense_V12L,Missense_V12L,Missense_V12L,Missense_V12L exm1317600 17 38073569 [T/C] NM_001165959,NM_001042471,NM_001165958,NM_018530 GSDMB,GSDMB,GSDMB,GSDMB EXON Missense_M1V,Missense_M1V,Missense_M1V,Missense_M1V exm1317616 17 38079494 [A/G] NM_139280 ORMDL3 EXON Missense_T66M exm1317618 17 38079502 [G/C] NM_139280 ORMDL3 EXON Missense_F63L exm1317633 17 38100673 [G/C] NM_001195545 LRRC3C EXON Missense_L172V exm-rs17609240 17 38110689 [T/G] exm1317645 17 38122095 [A/G] NM_178171 GSDMA EXON Missense_R52Q exm1317653 17 38122584 [T/C] NM_178171 GSDMA EXON Missense_P96S exm1317654 17 38122591 [T/C] NM_178171 GSDMA EXON Missense_T98M exm1317660 17 38122680 [T/G] NM_178171 GSDMA EXON Missense_V128L exm1317662 17 38122686 [A/G] NM_178171 GSDMA EXON Missense_E130K exm1317664 17 38126757 [T/C] NM_178171 GSDMA EXON Missense_F139L exm1317668 17 38126847 [A/G] NM_178171 GSDMA EXON Missense_G169S exm1317673 17 38127817 [A/G] NM_178171 GSDMA EXON Missense_G200D exm1317675 17 38127835 [A/G] NM_178171 GSDMA EXON Missense_R206Q exm1317689 17 38131187 [A/C] NM_178171 GSDMA EXON Missense_T314N exm1317726 17 38140666 [T/C] NM_002809 PSMD3 EXON Missense_Y114H exm1317731 17 38142883 [T/C] NM_002809 PSMD3 EXON Missense_S156L exm1317736 17 38142954 [T/C] NM_002809 PSMD3 EXON Missense_R180C exm1317741 17 38145033 [A/G] NM_002809 PSMD3 EXON Missense_R216Q exm1317742 17 38145039 [A/G] NM_002809 PSMD3 EXON Missense_Y218C exm1317746 17 38146002 [A/G] NM_002809 PSMD3 EXON Missense_A233T exm2252978 17 38146148 [T/C] NM_002809 PSMD3 EXON Synonymous_N281N exm1317753 17 38146382 [T/G] NM_002809 PSMD3 EXON Missense_A305S exm1317772 17 38152506 [T/C] NM_002809 PSMD3 EXON Missense_I464T exm-rs4794822 17 38156712 [T/C] exm1317796 17 38172805 [A/G] NM_001178147,NM_000759,NR_033662,NM_172220,NM_172219 CSF3,CSF3,CSF3,CSF3,CSF3 EXON Missense_G88E,Missense_G127E,Silent,Missense_G91E,Missense_G124E exm1317797 17 38172814 [T/C] NM_001178147,NM_000759,NR_033662,NM_172220,NM_172219 CSF3,CSF3,CSF3,CSF3,CSF3 EXON Missense_P91L,Missense_P130L,Silent,Missense_P94L,Missense_P127L exm1317800 17 38172820 [T/C] NM_001178147,NM_000759,NR_033662,NM_172220,NM_172219 CSF3,CSF3,CSF3,CSF3,CSF3 EXON Missense_L93S,Missense_L132S,Silent,Missense_L96S,Missense_L129S exm1317809 17 38173108 [A/G] NM_001178147,NM_000759,NR_033662,NM_172220,NM_172219 CSF3,CSF3,CSF3,CSF3,CSF3 EXON Missense_A135T,Missense_A174T,Silent,Missense_A138T,Missense_A171T exm1317810 17 38173123 [T/C] NM_001178147,NM_000759,NR_033662,NM_172220,NM_172219 CSF3,CSF3,CSF3,CSF3,CSF3 EXON Missense_R140C,Missense_R179C,Silent,Missense_R143C,Missense_R176C exm1317813 17 38173178 [T/C] NM_001178147,NM_000759,NR_033662,NM_172220,NM_172219 CSF3,CSF3,CSF3,CSF3,CSF3 EXON Missense_S158L,Missense_S197L,Silent,Missense_S161L,Missense_S194L exm1317823 17 38176038 [A/G] NM_001079518,NM_001267797,NR_052017,NM_014815 MED24,MED24,MED24,MED24 EXON Synonymous_T938T,Synonymous_T938T,Silent,Synonymous_T951T exm1317837 17 38178208 [T/C] NM_001079518,NM_001267797,NR_052017,NM_014815 MED24,MED24,MED24,MED24 EXON Missense_T862A,Missense_T862A,Silent,Missense_T875A exm1317848 17 38178660 [T/C] NM_001079518,NM_001267797,NR_052017,NM_014815 MED24,MED24,MED24,MED24 EXON Missense_R824H,Missense_R824H,Silent,Missense_R837H exm1317850 17 38178679 [A/G] NM_001079518,NM_001267797,NR_052017,NM_014815 MED24,MED24,MED24,MED24 EXON Missense_R818C,Missense_R818C,Silent,Missense_R831C exm1317859 17 38179043 [A/G] NM_001079518,NM_001267797,NR_052017,NM_014815 MED24,MED24,MED24,MED24 EXON Missense_R750W,Missense_R750W,Silent,Missense_R763W exm1317866 17 38179413 [T/C] NM_001079518,NM_001267797,NR_052017,NM_014815 MED24,MED24,MED24,MED24 EXON Missense_V728I,Missense_V728I,Silent,Missense_V741I exm1317881 17 38182415 [T/C] NM_001079518,NM_001267797,NR_052017,NM_014815 MED24,MED24,MED24,MED24 EXON Missense_N647S,Missense_N647S,Silent,Missense_N660S exm1884621 17 38183643 [T/C] NM_001079518,NM_001267797,NR_052017,NM_014815 MED24,MED24,MED24,MED24 EXON Missense_G495D,Missense_G495D,Silent,Missense_G508D exm1317919 17 38187428 [T/C] NM_001079518,NM_001267797,NR_052017,NM_014815 MED24,MED24,MED24,MED24 EXON Missense_N367D,Missense_N367D,Silent,Missense_N380D exm1317920 17 38187434 [T/C] NM_001079518,NM_001267797,NR_052017,NM_014815 MED24,MED24,MED24,MED24 EXON Missense_V365I,Missense_V365I,Silent,Missense_V378I exm1317924 17 38187845 [A/G] NM_001079518,NM_001267797,NR_052017,NM_014815 MED24,MED24,MED24,MED24 EXON Missense_F325S,Missense_F325S,Silent,Missense_F338S exm1317926 17 38188939 [A/G] NM_001079518,NM_001267797,NR_052017,NM_014815 MED24,MED24,MED24,MED24 EXON Missense_T287M,Missense_T287M,Silent,Missense_T300M exm1317937 17 38189407 [A/G] NM_001079518,NM_001267797,NR_052017,NM_014815 MED24,MED24,MED24,MED24 EXON Missense_P229S,Missense_P229S,Silent,Missense_P242S exm1317944 17 38189659 [T/C] NM_001079518,NM_001267797,NR_052017,NM_014815 MED24,MED24,MED24,MED24 EXON Missense_A191T,Missense_A191T,Silent,Missense_A204T exm1884673 17 38241000 [A/G] NM_001190919,NM_199334,NM_003250,NM_001190918 THRA,THRA,THRA,THRA EXON Missense_I170V,Missense_I170V,Missense_I170V,Missense_I170V exm2252979 17 38243103 [T/C] NM_001190919,NM_199334,NM_003250,NM_001190918 THRA,THRA,THRA,THRA EXON Synonymous_S240S,Synonymous_S240S,Synonymous_S240S,Synonymous_S240S exm1318009 17 38245620 [C/G] NM_001190919,NM_199334,NM_003250,NM_001190918 THRA,THRA,THRA,THRA EXON Silent,Missense_A382P,Silent,Silent exm1318039 17 38251358 [T/C] NM_021724 NR1D1 EXON Missense_M422V exm1318060 17 38251914 [T/G] NM_021724 NR1D1 EXON Missense_N344T exm1318063 17 38251989 [A/G] NM_021724 NR1D1 EXON Missense_A319V exm1318064 17 38251992 [T/C] NM_021724 NR1D1 EXON Missense_H318R exm1318081 17 38252768 [T/C] NM_021724 NR1D1 EXON Missense_V178I exm1318102 17 38253621 [A/G] NM_021724 NR1D1 EXON Missense_S23P exm1318103 17 38253655 [A/G] NM_021724 NR1D1 EXON Synonymous_G11G exm1318107 17 38282536 [A/G] NM_001012241 MSL1 EXON Missense_E27G exm1318148 17 38297859 [A/C] NM_007359 CASC3 EXON Missense_E99A exm1318159 17 38319019 [A/G] NM_007359 CASC3 EXON Missense_R217H exm1318186 17 38320381 [T/C] NM_007359 CASC3 EXON Missense_P478L exm1318204 17 38324554 [T/C] NM_007359 CASC3 EXON Missense_L617F exm1318225 17 38340876 [C/G] NM_016339 RAPGEFL1 EXON Missense_G54A exm1318227 17 38340897 [A/G] NM_016339 RAPGEFL1 EXON Missense_R61K exm1318240 17 38345585 [T/C] NM_016339 RAPGEFL1 EXON Missense_R152C exm1318302 17 38418780 [T/C] NM_133264 WIPF2 EXON Missense_P67L exm1318304 17 38418816 [T/C] NM_133264 WIPF2 EXON Missense_A79V exm1318308 17 38418867 [A/G] NM_133264 WIPF2 EXON Missense_R96Q exm1884849 17 38421015 [A/G] NM_133264 WIPF2 EXON Missense_H196R exm1318325 17 38421017 [A/T] NM_133264 WIPF2 EXON Missense_S197C exm1318328 17 38421111 [C/G] NM_133264 WIPF2 EXON Missense_P228R exm1318334 17 38421216 [A/G] NM_133264 WIPF2 EXON Missense_N263S exm1884854 17 38421293 [A/G] NM_133264 WIPF2 EXON Missense_G289R exm1884857 17 38430059 [A/C] NM_133264 WIPF2 EXON Missense_P330T exm1318354 17 38445811 [T/C] NM_001254 CDC6 EXON Missense_R47C exm1884884 17 38447337 [A/G] NM_001254 CDC6 EXON Missense_H69R exm1318364 17 38447570 [T/G] NM_001254 CDC6 EXON Missense_V147L exm1318368 17 38447857 [C/G] NM_001254 CDC6 EXON Nonsense_Y199X exm1318371 17 38449759 [A/G] NM_001254 CDC6 EXON Missense_T238A exm1318383 17 38450248 [A/G] NM_001254 CDC6 EXON Missense_D295N exm1318393 17 38451656 [T/C] NM_001254 CDC6 EXON Missense_R378C exm1318404 17 38457151 [A/G] NM_001254 CDC6 EXON Missense_V441I exm1318407 17 38457723 [T/C] NM_001254 CDC6 EXON Missense_Y486H exm1318444 17 38487528 [C/G] NM_000964,NM_001145302,NM_001145301 RARA,RARA,RARA EXON Missense_P20A,Missense_P20A,Missense_P20A exm1318454 17 38487598 [G/C] NM_000964,NM_001145302,NM_001145301 RARA,RARA,RARA EXON Missense_T43S,Missense_T43S,Missense_T43S exm1318455 17 38487639 [T/C] NM_000964,NM_001145302,NM_001145301 RARA,RARA,RARA EXON Missense_S57P,Missense_S57P,Missense_S57P exm1318481 17 38498975 [T/G] NM_000964,NM_001145302,NM_001145301,NM_001024809 RARA,RARA,RARA,RARA EXON Silent,Silent,Silent,Missense_V7L exm1318485 17 38499083 [T/C] NM_000964,NM_001145302,NM_001145301,NM_001024809 RARA,RARA,RARA,RARA EXON Silent,Silent,Silent,Missense_P43S exm1318575 17 38519545 [A/G] NM_152219 GJD3 EXON Missense_H175Y exm1318584 17 38519779 [A/T] NM_152219 GJD3 EXON Missense_M97L exm-rs13695 17 38545193 [T/C] NM_001067 TOP2A EXON Silent exm1318614 17 38545886 [A/T] NM_001067 TOP2A EXON Missense_E1494V exm1884976 17 38546329 [A/G] NM_001067 TOP2A EXON Missense_S1452F exm1318625 17 38547868 [T/C] NM_001067 TOP2A EXON Missense_G1386D exm1318629 17 38548575 [A/G] NM_001067 TOP2A EXON Missense_M1328T exm1318634 17 38548888 [T/C] NM_001067 TOP2A EXON Missense_E1305K exm1318650 17 38552663 [T/C] NM_001067 TOP2A EXON Missense_G1198R exm2276504 17 38552665 [A/C] NM_001067 TOP2A EXON Missense_G1197V exm1318652 17 38552666 [G/C] NM_001067 TOP2A EXON Missense_G1197R exm1318653 17 38552674 [C/G] NM_001067 TOP2A EXON Missense_P1194R exm1318654 17 38554867 [T/G] NM_001067 TOP2A EXON Missense_R1160S exm1318658 17 38555150 [T/C] NM_001067 TOP2A EXON Missense_K1110E exm1318671 17 38556798 [T/C] NM_001067 TOP2A EXON Missense_V928I exm1318676 17 38556902 [T/C] NM_001067 TOP2A EXON Missense_K893R exm1318684 17 38559269 [A/T] NM_001067 TOP2A EXON Missense_N774I exm1318687 17 38560463 [C/G] NM_001067 TOP2A EXON Missense_V742L exm1885028 17 38567951 [T/C] NM_001067 TOP2A EXON Missense_M303I exm2264644 17 38592478 [A/C] exm1318769 17 38612749 [T/C] NM_001552 IGFBP4 EXON Missense_R231W exm1318775 17 38633854 [T/C] NM_032865 TNS4 EXON Missense_A712T exm1318798 17 38635981 [T/C] NM_032865 TNS4 EXON Missense_V619M exm1318807 17 38636954 [A/G] NM_032865 TNS4 EXON Missense_A580V exm1318822 17 38638644 [T/C] NM_032865 TNS4 EXON Missense_R509Q exm1318828 17 38640744 [T/C] NM_032865 TNS4 EXON Missense_S498N exm1318831 17 38640757 [T/C] NM_032865 TNS4 EXON Missense_A494T exm1318837 17 38641214 [A/G] NM_032865 TNS4 EXON Missense_T445I exm2276505 17 38643384 [A/C] NM_032865 TNS4 EXON Missense_V398F exm1318855 17 38643596 [T/G] NM_032865 TNS4 EXON Missense_T327K exm1318877 17 38645093 [T/C] NM_032865 TNS4 EXON Missense_V190I exm1318882 17 38645125 [A/G] NM_032865 TNS4 EXON Missense_L179P exm2252984 17 38646147 [T/C] NM_032865 TNS4 Silent exm1318890 17 38652319 [A/G] NM_032865 TNS4 EXON Missense_P120L exm1318900 17 38652605 [T/C] NM_032865 TNS4 EXON Missense_R25G exm1318909 17 38711073 [T/C] NM_001838 CCR7 EXON Missense_R353Q exm1318924 17 38711323 [T/C] NM_001838 CCR7 EXON Missense_V270M exm2226293 17 38711507 [T/C] NM_001838 CCR7 EXON Missense_M208I exm1318938 17 38711635 [A/G] NM_001838 CCR7 EXON Missense_R166C exm1318958 17 38715186 [T/C] NM_001838 CCR7 EXON Missense_M7V exm-rs7221109 17 38770286 [T/C] exm1318971 17 38785206 [T/C] NM_003079 SMARCE1 EXON Missense_N356S exm1319014 17 38798806 [A/C] NM_003079 SMARCE1 EXON Missense_M19I exm1319043 17 38818220 [A/G] NM_152349 KRT222 EXON Missense_A58V exm2264628 17 38841662 [A/C] exm1319056 17 38854793 [A/G] NM_019016 KRT24 EXON Nonsense_R491X exm1319059 17 38854817 [A/G] NM_019016 KRT24 EXON Missense_S483P exm1319061 17 38854871 [T/C] NM_019016 KRT24 EXON Missense_N465D exm1319064 17 38855721 [A/G] NM_019016 KRT24 EXON Missense_R446C exm1319070 17 38855772 [T/C] NM_019016 KRT24 EXON Missense_K429E exm1319073 17 38855805 [A/G] NM_019016 KRT24 EXON Missense_W418R exm1319075 17 38855813 [T/C] NM_019016 KRT24 EXON Missense_C415Y exm1319077 17 38855843 [A/G] NM_019016 KRT24 EXON Missense_T405M exm1319083 17 38856296 [T/C] NM_019016 KRT24 EXON Missense_R366H exm1319084 17 38856297 [A/G] NM_019016 KRT24 EXON Missense_R366C exm2252986 17 38856301 [T/C] NM_019016 KRT24 EXON Synonymous_L364L exm1319099 17 38857446 [A/C] NM_019016 KRT24 EXON Missense_M267I exm1319102 17 38857498 [T/C] NM_019016 KRT24 EXON Missense_G250D exm1319117 17 38859335 [T/C] NM_019016 KRT24 EXON Missense_N204S exm1319118 17 38859390 [T/C] NM_019016 KRT24 EXON Missense_G186S exm1319123 17 38859498 [A/G] NM_019016 KRT24 EXON Missense_R150C exm1319125 17 38859509 [T/C] NM_019016 KRT24 EXON Missense_N146S exm1319130 17 38859603 [T/C] NM_019016 KRT24 EXON Missense_A115T exm1319132 17 38859627 [T/C] NM_019016 KRT24 EXON Missense_G107R exm1319142 17 38859816 [A/G] NM_019016 KRT24 EXON Nonsense_R44X exm1319143 17 38859830 [A/G] NM_019016 KRT24 EXON Missense_S39L exm-rs9972941 17 38867922 [A/C] exm1319167 17 38906839 [A/C] NM_181534 KRT25 EXON Missense_L323R exm1319168 17 38907231 [A/G] NM_181534 KRT25 EXON Missense_I311T exm1319172 17 38907448 [T/C] NM_181534 KRT25 EXON Missense_R267H exm1319175 17 38907532 [T/G] NM_181534 KRT25 EXON Missense_E239A exm1319176 17 38907557 [T/C] NM_181534 KRT25 EXON Missense_A231T exm1319178 17 38910115 [T/A] NM_181534 KRT25 EXON Missense_K222N exm1319183 17 38910207 [T/C] NM_181534 KRT25 EXON Missense_V192I exm1319188 17 38910654 [T/C] NM_181534 KRT25 EXON Missense_D166N exm1319191 17 38910680 [T/G] NM_181534 KRT25 EXON Missense_Q157P exm2274930 17 38910714 [T/C] NM_181534 KRT25 EXON Missense_A146T exm1319200 17 38911310 [A/G] NM_181534 KRT25 EXON Missense_R72W exm1319205 17 38911376 [T/C] NM_181534 KRT25 EXON Missense_G50R exm1885185 17 38922790 [A/G] NM_181539 KRT26 EXON Nonsense_R462X exm1319223 17 38922822 [A/G] NM_181539 KRT26 EXON Missense_S451F exm1319225 17 38922897 [A/G] NM_181539 KRT26 EXON Missense_V426A exm1319233 17 38925204 [G/C] NM_181539 KRT26 EXON Missense_Q372E exm1319234 17 38925239 [T/C] NM_181539 KRT26 EXON Missense_R360Q exm1319236 17 38925270 [T/C] NM_181539 KRT26 EXON Missense_G350R exm1319237 17 38925294 [A/G] NM_181539 KRT26 EXON Missense_L342F exm1319246 17 38926124 [A/G] NM_181539 KRT26 EXON Missense_T284M exm1319257 17 38926364 [A/T] NM_181539 KRT26 EXON Missense_V231D exm1319260 17 38926528 [A/G] NM_181539 KRT26 EXON Missense_Y220H exm1319266 17 38926621 [T/C] NM_181539 KRT26 EXON Missense_D189N exm1319273 17 38927458 [T/G] NM_181539 KRT26 EXON Missense_I158L exm1319276 17 38927478 [A/G] NM_181539 KRT26 EXON Missense_A151V exm1319283 17 38928014 [A/G] NM_181539 KRT26 EXON Missense_W118R exm1319284 17 38928019 [T/C] NM_181539 KRT26 EXON Missense_K116R exm1319285 17 38928028 [T/C] NM_181539 KRT26 EXON Missense_Q113R exm1319303 17 38928323 [A/G] NM_181539 KRT26 EXON Nonsense_R15X exm1319307 17 38933291 [A/G] NM_181537 KRT27 EXON Missense_T447I exm1319310 17 38933339 [T/C] NM_181537 KRT27 EXON Missense_R431H exm1319311 17 38933388 [A/C] NM_181537 KRT27 EXON Missense_S415A exm1319327 17 38935795 [A/G] NM_181537 KRT27 EXON Missense_L311F exm1319329 17 38935812 [A/G] NM_181537 KRT27 EXON Missense_I305T exm1319333 17 38935876 [T/C] NM_181537 KRT27 EXON Missense_A284T exm1319340 17 38935980 [T/C] NM_181537 KRT27 EXON Missense_R273K exm1319343 17 38936014 [T/C] NM_181537 KRT27 EXON Missense_A262T exm1319347 17 38936089 [T/C] NM_181537 KRT27 EXON Missense_A237T exm1319350 17 38936587 [T/C] NM_181537 KRT27 EXON Missense_E217K exm1319352 17 38936659 [T/C] NM_181537 KRT27 EXON Missense_G193S exm1319362 17 38938316 [T/C] NM_181537 KRT27 EXON Missense_E144K exm1319366 17 38938427 [T/C] NM_181537 KRT27 EXON Missense_E107K exm1319382 17 38938700 [T/C] NM_181537 KRT27 EXON Missense_G16R exm1885225 17 38948714 [T/C] NM_181535 KRT28 EXON Missense_T454A exm1319386 17 38948759 [T/G] NM_181535 KRT28 EXON Missense_L439I exm1319394 17 38950184 [T/C] NM_181535 KRT28 EXON Missense_E365K exm1319405 17 38953242 [T/C] NM_181535 KRT28 EXON Missense_A302T exm1319410 17 38953389 [T/C] NM_181535 KRT28 EXON Missense_A279T exm1885235 17 38954512 [A/G] NM_181535 KRT28 EXON Missense_T222I exm1319425 17 38954561 [A/G] NM_181535 KRT28 EXON Missense_C206R exm1319431 17 38954639 [T/C] NM_181535 KRT28 EXON Missense_E180K exm1319443 17 38955754 [T/C] NM_181535 KRT28 EXON Missense_R131H exm1319444 17 38955770 [T/C] NM_181535 KRT28 EXON Missense_G126R exm1319449 17 38955832 [T/C] NM_181535 KRT28 EXON Missense_R105Q exm1319452 17 38955914 [T/C] NM_181535 KRT28 EXON Missense_E78K exm1319459 17 38955991 [T/C] NM_181535 KRT28 EXON Missense_G52D exm1319461 17 38956007 [A/G] NM_181535 KRT28 EXON Missense_C47R exm1319463 17 38956024 [T/G] NM_181535 KRT28 EXON Missense_A41D exm1319466 17 38956121 [A/G] NM_181535 KRT28 EXON Missense_S9P exm1319471 17 38974733 [A/G] NM_000421 KRT10 EXON Missense_Y584H exm1319475 17 38975063 [A/C] NM_000421 KRT10 EXON Missense_G575V exm1319526 17 38976888 [T/C] NM_000421,NM_001195387,NM_145274,NM_001195386 KRT10,TMEM99,TMEM99,TMEM99 EXON Missense_V248M,Silent,Silent,Silent exm1885263 17 38977344 [A/G] NM_000421,NM_001195387,NM_145274,NM_001195386 KRT10,TMEM99,TMEM99,TMEM99 EXON Missense_A218V,Silent,Silent,Silent exm1319536 17 38978462 [T/C] NM_000421,NM_001195387,NM_145274,NM_001195386 KRT10,TMEM99,TMEM99,TMEM99 EXON Missense_G126S,Silent,Silent,Silent exm1319551 17 38978536 [A/C] NM_000421,NM_001195387,NM_145274,NM_001195386 KRT10,TMEM99,TMEM99,TMEM99 EXON Missense_I101S,Silent,Silent,Silent exm1319552 17 38978581 [T/C] NM_000421,NM_001195387,NM_145274,NM_001195386 KRT10,TMEM99,TMEM99,TMEM99 EXON Missense_R86H,Silent,Silent,Silent exm2252987 17 38978703 [T/C] NM_000421,NM_001195387,NM_145274,NM_001195386 KRT10,TMEM99,TMEM99,TMEM99 EXON Synonymous_G45G,Silent,Silent,Silent exm1319559 17 38978713 [A/G] NM_000421,NM_001195387,NM_145274,NM_001195386 KRT10,TMEM99,TMEM99,TMEM99 EXON Missense_S42F,Silent,Silent,Silent exm1319560 17 38978740 [A/G] NM_000421,NM_001195387,NM_145274,NM_001195386 KRT10,TMEM99,TMEM99,TMEM99 EXON Missense_S33F,Silent,Silent,Silent exm1319570 17 38990780 [C/G] NM_001195387,NM_145274,NM_001195386 TMEM99,TMEM99,TMEM99 EXON Missense_I4M,Missense_I4M,Missense_I4M exm1319576 17 38990841 [G/C] NM_001195387,NM_145274,NM_001195386 TMEM99,TMEM99,TMEM99 EXON Missense_V25L,Missense_V25L,Missense_V25L exm1319577 17 38990851 [T/C] NM_001195387,NM_145274,NM_001195386 TMEM99,TMEM99,TMEM99 EXON Missense_T28I,Missense_T28I,Missense_T28I exm1319588 17 38991052 [T/G] NM_001195387,NM_145274,NM_001195386 TMEM99,TMEM99,TMEM99 EXON Missense_L95R,Missense_L95R,Missense_L95R exm1319591 17 38991100 [A/G] NM_001195387,NM_145274,NM_001195386 TMEM99,TMEM99,TMEM99 EXON Missense_N111S,Missense_N111S,Missense_N111S exm1319598 17 38991257 [A/G] NM_001195387,NM_145274,NM_001195386 TMEM99,TMEM99,TMEM99 EXON Nonsense_W163X,Nonsense_W163X,Nonsense_W163X exm1319605 17 38991490 [A/C] NM_001195387,NM_145274,NM_001195386 TMEM99,TMEM99,TMEM99 EXON Missense_Q241P,Missense_Q241P,Missense_Q241P exm1885278 17 39019462 [A/C] NM_000223 KRT12 EXON Missense_V410G exm1319615 17 39019535 [T/G] NM_000223 KRT12 EXON Missense_Q386K exm1319623 17 39019859 [T/C] NM_000223 KRT12 EXON Missense_G325R exm1319628 17 39020022 [A/G] NM_000223 KRT12 EXON Missense_M301T exm1319647 17 39022440 [T/C] NM_000223 KRT12 EXON Missense_N206S exm1319656 17 39022993 [A/G] NM_000223 KRT12 EXON Missense_A149V exm1319673 17 39023381 [A/G] NM_000223 KRT12 EXON Missense_R20W exm1319706 17 39036190 [T/C] NM_019010 KRT20 EXON Missense_T265A exm1319710 17 39036507 [T/C] NM_019010 KRT20 EXON Missense_D213N exm1319713 17 39036895 [C/G] NM_019010 KRT20 EXON Missense_L201V exm1319721 17 39037000 [A/G] NM_019010 KRT20 EXON Missense_R166C exm1319722 17 39037017 [T/C] NM_019010 KRT20 EXON Missense_E160G exm1319725 17 39038852 [T/C] NM_019010 KRT20 EXON Missense_K149E exm1319729 17 39041052 [T/C] NM_019010 KRT20 EXON Missense_S129N exm1885326 17 39041107 [A/G] NM_019010 KRT20 EXON Missense_P111S exm1319734 17 39041162 [A/C] NM_019010 KRT20 EXON Missense_E92D exm2252988 17 39041342 [T/C] NM_019010 KRT20 EXON Synonymous_T32T exm1319743 17 39041342 [T/C] NM_019010 KRT20 EXON Synonymous_T32T exm-rs2315504 17 39046881 [A/C] exm1319759 17 39081614 [C/G] NM_015515 KRT23 EXON Missense_E378D exm1319763 17 39081639 [A/G] NM_015515 KRT23 EXON Missense_T370M exm1319771 17 39081780 [A/G] NM_015515 KRT23 EXON Missense_S323F exm1319773 17 39081799 [T/C] NM_015515 KRT23 EXON Missense_E317K exm1319775 17 39081814 [C/G] NM_015515 KRT23 EXON Missense_E312Q exm1319778 17 39084504 [T/C] NM_015515 KRT23 EXON Missense_T303A exm1319780 17 39084536 [T/C] NM_015515 KRT23 EXON Missense_R292H exm1319789 17 39086229 [T/C] NM_015515 KRT23 EXON Missense_R200K exm1319795 17 39087685 [T/C] NM_015515 KRT23 EXON Missense_N140S exm1319797 17 39087692 [A/T] NM_015515 KRT23 EXON Missense_M138L exm2274932 17 39092808 [A/C] NM_015515 KRT23 EXON Missense_H16Q exm1319824 17 39114897 [T/C] NM_213656 KRT39 EXON Missense_E478K exm1319829 17 39114962 [T/C] NM_213656 KRT39 EXON Missense_R456Q exm1319832 17 39115034 [A/G] NM_213656 KRT39 EXON Missense_T432M exm1319834 17 39115061 [A/G] NM_213656 KRT39 EXON Missense_S423F exm1885368 17 39115094 [T/C] NM_213656 KRT39 EXON Missense_R412H exm1319837 17 39115095 [A/G] NM_213656 KRT39 EXON Missense_R412C exm1319842 17 39116578 [G/C] NM_213656 KRT39 EXON Missense_C391S exm1319845 17 39116597 [T/C] NM_213656 KRT39 EXON Missense_V385I exm1319847 17 39116603 [T/G] NM_213656 KRT39 EXON Missense_L383M exm2226307 17 39116644 [T/C] NM_213656 KRT39 EXON Missense_R369Q exm1319856 17 39116728 [A/G] NM_213656 KRT39 EXON Missense_T341M exm1319859 17 39118460 [T/C] NM_213656 KRT39 EXON Missense_R317H exm1319864 17 39118686 [A/G] NM_213656 KRT39 EXON Missense_R280C exm1319877 17 39119986 [T/C] NM_213656 KRT39 EXON Missense_G201S exm1319880 17 39120036 [A/C] NM_213656 KRT39 Silent exm1319886 17 39122660 [A/G] NM_213656 KRT39 EXON Missense_I150T exm1319894 17 39122852 [T/C] NM_213656 KRT39 EXON Missense_S86N exm1319899 17 39122939 [T/C] NM_213656 KRT39 EXON Missense_Q57R exm1319918 17 39134541 [A/G] NM_182497 KRT40 EXON Missense_C402R exm1885396 17 39135066 [A/C] NM_182497 KRT40 EXON Nonsense_E396X exm1319926 17 39135084 [A/G] NM_182497 KRT40 EXON Missense_W390R exm1319931 17 39135143 [T/C] NM_182497 KRT40 EXON Missense_Q370R exm1319935 17 39135207 [A/G] NM_182497 KRT40 EXON Missense_C349R exm1885402 17 39137090 [T/G] NM_182497 KRT40 EXON Missense_L308M exm1319941 17 39137104 [A/G] NM_182497 KRT40 EXON Missense_M303T exm1319942 17 39137154 [G/C] NM_182497 KRT40 EXON Missense_E286D exm1319943 17 39137262 [T/C] NM_182497 KRT40 EXON Missense_E277K exm1319945 17 39137297 [T/C] NM_182497 KRT40 EXON Missense_C265Y exm1319947 17 39137325 [T/C] NM_182497 KRT40 EXON Missense_R256G exm1319965 17 39140138 [A/G] NM_182497 KRT40 EXON Missense_P130S exm1319968 17 39140183 [T/C] NM_182497 KRT40 EXON Missense_A115T exm1319970 17 39140194 [T/C] NM_182497 KRT40 EXON Missense_E111G exm1319971 17 39140203 [T/C] NM_182497 KRT40 EXON Missense_R108H exm1319972 17 39140221 [T/C] NM_182497 KRT40 EXON Missense_S102N exm1319979 17 39140417 [T/C] NM_182497 KRT40 EXON Missense_T37A exm1319981 17 39140429 [A/G] NM_182497 KRT40 EXON Missense_C33R exm1319983 17 39140468 [T/C] NM_182497 KRT40 EXON Missense_G20S exm1885417 17 39140509 [A/G] NM_182497 KRT40 EXON Missense_S6F exm1320003 17 39150310 [T/C] NM_033185 KRTAP3-3 EXON Missense_G14R exm1885425 17 39150312 [G/C] NM_033185 KRTAP3-3 EXON Missense_T13S exm1320032 17 39156087 [A/G] NM_031959 KRTAP3-2 EXON Missense_R7C exm1885434 17 39156104 [A/G] NM_031959 KRTAP3-2 EXON Missense_M1T exm1320037 17 39165169 [A/G] NM_031958 KRTAP3-1 EXON Missense_P53L exm1320047 17 39182919 [T/G] NM_031957 KRTAP1-5 EXON Nonsense_C163X exm1320051 17 39182945 [A/G] NM_031957 KRTAP1-5 EXON Missense_R155C exm1320058 17 39183065 [A/G] NM_031957 KRTAP1-5 EXON Missense_R115C exm1320059 17 39183104 [T/C] NM_031957 KRTAP1-5 EXON Missense_S102G exm1320065 17 39183150 [C/G] NM_031957 KRTAP1-5 EXON Missense_C86W exm1320077 17 39183295 [T/C] NM_031957 KRTAP1-5 EXON Missense_R38H exm1320079 17 39183304 [T/C] NM_031957 KRTAP1-5 EXON Missense_C35Y exm1320117 17 39191013 [A/C] NM_030966 KRTAP1-3 EXON Missense_G21C exm1320143 17 39197499 [A/G] NM_030967 KRTAP1-1 EXON Nonsense_Q51X exm1320165 17 39197615 [G/C] NM_030967 KRTAP1-1 EXON Missense_P12R exm1320390 17 39296135 [A/G] NM_030976 KRTAP4-6 EXON Missense_S202F exm1320439 17 39306004 [A/G] NM_033188 KRTAP4-5 EXON Missense_C6R exm1320495 17 39323971 [A/G] NM_033187 KRTAP4-3 EXON Missense_P152S exm1320534 17 39324348 [T/C] NM_033187 KRTAP4-3 EXON Missense_R26H exm1320539 17 39324421 [A/C] NM_033187 KRTAP4-3 EXON Missense_V2F exm1320570 17 39340694 [T/C] NM_033060 KRTAP4-1 EXON Missense_R119H exm1320574 17 39340739 [T/C] NM_033060 KRTAP4-1 EXON Missense_R104H exm1320578 17 39340764 [T/G] NM_033060 KRTAP4-1 EXON Missense_S96R exm1320587 17 39340886 [T/C] NM_033060 KRTAP4-1 EXON Missense_C74Y exm1320590 17 39340925 [T/C] NM_033060 KRTAP4-1 EXON Missense_R61H exm1320600 17 39341048 [T/C] NM_033060 KRTAP4-1 EXON Missense_C20Y exm1320607 17 39346518 [T/C] NM_001190460 KRTAP9-1 EXON Missense_I127T exm1320608 17 39346622 [A/T] NM_001190460 KRTAP9-1 EXON Missense_C162S exm1320860 17 39464046 [C/G] NM_001146182 KRTAP16-1 EXON Missense_A487G exm1320862 17 39464437 [C/G] NM_001146182 KRTAP16-1 EXON Missense_L357V exm1320869 17 39464736 [C/G] NM_001146182 KRTAP16-1 EXON Missense_S257T exm1320870 17 39464779 [T/C] NM_001146182 KRTAP16-1 EXON Missense_S243G exm1320899 17 39471769 [C/G] NM_031964 KRTAP17-1 EXON Missense_G45A exm1320917 17 39502422 [T/A] NM_004138 KRT33A EXON Missense_N388K exm1320919 17 39502477 [T/C] NM_004138 KRT33A EXON Missense_N370S exm1320939 17 39502917 [A/C] NM_004138 KRT33A EXON Missense_D294Y exm1321000 17 39506982 [T/C] NM_004138 KRT33A EXON Missense_R13H exm1321007 17 39520119 [T/C] NM_002279 KRT33B EXON Missense_R395H exm1885673 17 39520120 [A/G] NM_002279 KRT33B EXON Missense_R395C exm1321008 17 39520126 [T/G] NM_002279 KRT33B EXON Missense_R393S exm1321051 17 39522856 [A/G] NM_002279 KRT33B EXON Missense_R152W exm2252994 17 39525970 [A/G] NM_002279 KRT33B EXON Synonymous_S11S exm1321079 17 39534363 [G/C] NM_021013 KRT34 EXON Missense_S420T exm1321080 17 39534366 [A/G] NM_021013 KRT34 EXON Missense_A419V exm1321082 17 39534380 [A/G] NM_021013 KRT34 EXON Synonymous_C414C exm1321114 17 39535724 [T/C] NM_021013 KRT34 EXON Missense_E295K exm1321134 17 39535950 [A/G] NM_021013 KRT34 EXON Missense_R250C exm1885716 17 39537456 [A/G] NM_021013 KRT34 EXON Missense_T189M exm1321151 17 39538029 [C/G] NM_021013 KRT34 EXON Missense_E165Q exm1321194 17 39550308 [A/G] NM_002277 KRT31 EXON Missense_P404L exm1321199 17 39550368 [A/G] NM_002277 KRT31 EXON Missense_P384L exm1321204 17 39550398 [A/G] NM_002277 KRT31 EXON Missense_T374M exm1321241 17 39551841 [A/C] NM_002277 KRT31 EXON Missense_R208L exm2226341 17 39551842 [A/G] NM_002277 KRT31 EXON Missense_R208C exm1321242 17 39551859 [T/C] NM_002277 KRT31 EXON Missense_R202H exm2276509 17 39553183 [A/G] NM_002277 KRT31 EXON Missense_A138V exm2272516 17 39574318 [T/C] exm1321275 17 39577180 [A/G] NM_003770 KRT37 EXON Missense_P434S exm1321276 17 39577186 [A/C] NM_003770 KRT37 EXON Missense_C432G exm1321278 17 39577215 [A/G] NM_003770 KRT37 EXON Missense_T422M exm1321279 17 39577218 [A/G] NM_003770 KRT37 EXON Missense_S421F exm1321283 17 39577647 [A/G] NM_003770 KRT37 EXON Missense_R405W exm2276510 17 39577715 [A/C] NM_003770 KRT37 EXON Missense_R382L exm1321301 17 39578553 [T/C] NM_003770 KRT37 EXON Missense_Q289R exm1321315 17 39579112 [A/G] NM_003770 KRT37 EXON Missense_A217V exm1321322 17 39579148 [A/G] NM_003770 KRT37 EXON Missense_A205V exm1321324 17 39579157 [T/A] NM_003770 KRT37 EXON Missense_L202Q exm1321331 17 39580285 [T/C] NM_003770 KRT37 EXON Missense_K164R exm1321353 17 39580491 [A/G] NM_003770 KRT37 EXON Synonymous_Y95Y exm1321356 17 39580559 [A/T] NM_003770 KRT37 EXON Missense_S73C exm1321360 17 39580595 [A/G] NM_003770 KRT37 EXON Missense_P61S exm1321364 17 39580622 [T/C] NM_003770 KRT37 EXON Missense_A52T exm1321365 17 39580660 [T/C] NM_003770 KRT37 EXON Missense_N39S exm1321366 17 39580676 [T/G] NM_003770 KRT37 EXON Missense_P34T exm1321370 17 39580738 [T/C] NM_003770 KRT37 EXON Missense_G13D exm1321380 17 39593672 [A/G] NM_006771 KRT38 EXON Nonsense_R455X exm1321381 17 39593678 [T/C] NM_006771 KRT38 EXON Missense_G453R exm1321384 17 39593722 [T/C] NM_006771 KRT38 EXON Missense_G438D exm1321385 17 39593734 [T/C] NM_006771 KRT38 EXON Missense_R434H exm1321386 17 39593768 [A/G] NM_006771 KRT38 EXON Missense_S423P exm1321407 17 39594525 [T/C] NM_006771 KRT38 EXON Missense_R354H exm1321423 17 39595071 [A/G] NM_006771 KRT38 EXON Missense_R258W exm1321453 17 39596687 [A/G] NM_006771 KRT38 EXON Nonsense_Q163X exm1321460 17 39596878 [T/G] NM_006771 KRT38 EXON Missense_T99N exm1885847 17 39597056 [A/T] NM_006771 KRT38 EXON Missense_I40F exm1321480 17 39597116 [A/C] NM_006771 KRT38 EXON Missense_A20S exm1321491 17 39616430 [T/G] NM_002278 KRT32 EXON Missense_P427T exm1321498 17 39619109 [T/C] NM_002278 KRT32 EXON Missense_R397Q exm1321513 17 39619283 [A/G] NM_002278 KRT32 EXON Missense_T339M exm1321518 17 39620364 [A/G] NM_002278 KRT32 EXON Missense_T321M exm1321520 17 39620376 [T/C] NM_002278 KRT32 EXON Missense_R317H exm1321528 17 39620557 [T/C] NM_002278 KRT32 EXON Missense_V283M exm1321530 17 39620565 [T/C] NM_002278 KRT32 EXON Missense_R280H exm1321531 17 39620566 [A/G] NM_002278 KRT32 EXON Missense_R280C exm1321548 17 39622068 [T/G] NM_002278 KRT32 EXON Missense_S222Y exm2226355 17 39622141 [A/C] NM_002278 KRT32 EXON Missense_D198Y exm1321551 17 39622150 [A/C] NM_002278 KRT32 EXON Missense_V195L exm1321555 17 39622385 [A/G] NM_002278 KRT32 EXON Missense_I171T exm1321566 17 39623208 [T/G] NM_002278 KRT32 EXON Missense_L124M exm1885883 17 39623220 [C/G] NM_002278 KRT32 EXON Missense_E120Q exm1885884 17 39623261 [T/C] NM_002278 KRT32 EXON Missense_R106H exm1321578 17 39623328 [T/C] NM_002278 KRT32 EXON Missense_G84S exm1321584 17 39623432 [A/G] NM_002278 KRT32 EXON Missense_S49L exm1321588 17 39623496 [T/C] NM_002278 KRT32 EXON Missense_G28S exm1321592 17 39623520 [A/G] NM_002278 KRT32 EXON Missense_R20W exm1321634 17 39634732 [T/C] NM_002280 KRT35 EXON Missense_E294K exm1321638 17 39635115 [A/G] NM_002280 KRT35 EXON Missense_R282W exm1321639 17 39635117 [T/C] NM_002280 KRT35 EXON Missense_R281H exm1321642 17 39635143 [C/G] NM_002280 KRT35 EXON Missense_Q272H exm1885908 17 39635169 [A/G] NM_002280 KRT35 EXON Nonsense_R264X exm1321652 17 39635213 [T/C] NM_002280 KRT35 EXON Missense_R249H exm1321653 17 39635214 [A/G] NM_002280 KRT35 EXON Missense_R249C exm1321677 17 39636926 [A/G] NM_002280 KRT35 EXON Missense_P142S exm1321679 17 39636961 [T/C] NM_002280 KRT35 EXON Missense_R130H exm1321680 17 39636962 [A/G] NM_002280 KRT35 EXON Missense_R130C exm1321681 17 39636983 [T/C] NM_002280 KRT35 EXON Missense_A123T exm1885921 17 39636995 [T/C] NM_002280 KRT35 EXON Missense_E119K exm1321692 17 39637145 [T/C] NM_002280 KRT35 EXON Missense_A69T exm1321693 17 39637220 [A/G] NM_002280 KRT35 EXON Missense_P44S exm1321696 17 39637244 [A/G] NM_002280 KRT35 EXON Missense_S36P exm1321697 17 39637262 [T/C] NM_002280 KRT35 EXON Missense_A30T exm1321699 17 39637271 [A/G] NM_002280 KRT35 EXON Missense_R27C exm1321701 17 39637328 [T/C] NM_002280 KRT35 EXON Missense_A8T exm1321702 17 39637336 [T/C] NM_002280 KRT35 EXON Missense_C5Y exm1321722 17 39643230 [A/G] NM_003771 KRT36 EXON Missense_R394C exm2252997 17 39643627 [A/G] NM_003771 KRT36 EXON Synonymous_I321I exm1321737 17 39643646 [A/G] NM_003771 KRT36 EXON Missense_T315M exm1321738 17 39643658 [T/A] NM_003771 KRT36 EXON Missense_E311V exm1321739 17 39643659 [A/C] NM_003771 KRT36 EXON Nonsense_E311X exm1321740 17 39643680 [A/C] NM_003771 KRT36 EXON Missense_C304G exm1321741 17 39643710 [A/G] NM_003771 KRT36 EXON Nonsense_Q294X exm1321744 17 39643844 [T/G] NM_003771 KRT36 EXON Missense_A282D exm1321746 17 39643860 [A/G] NM_003771 KRT36 EXON Missense_R277C exm2274935 17 39643878 [T/C] NM_003771 KRT36 EXON Missense_A271T exm1321749 17 39643934 [C/G] NM_003771 KRT36 EXON Missense_A252G exm1321751 17 39643982 [T/C] NM_003771 KRT36 EXON Missense_S236N exm2274936 17 39644517 [A/C] NM_003771 KRT36 EXON Missense_C226F exm1321763 17 39644900 [T/C] NM_003771 KRT36 EXON Missense_R179Q exm1321764 17 39644901 [A/G] NM_003771 KRT36 EXON Missense_R179W exm1321776 17 39645740 [T/C] NM_003771 KRT36 EXON Missense_Q126R exm1321777 17 39645761 [A/G] NM_003771 KRT36 EXON Missense_A119V exm1321790 17 39645956 [A/G] NM_003771 KRT36 EXON Missense_S54L exm1321797 17 39646047 [T/C] NM_003771 KRT36 EXON Missense_G24S exm1321802 17 39657519 [A/G] NM_153490,NM_002274 KRT13,KRT13 EXON Missense_R456C,Silent exm1321807 17 39657599 [T/C] NM_153490,NM_002274 KRT13,KRT13 EXON Missense_R429H,Synonymous_P420P exm1321810 17 39657609 [T/C] NM_153490,NM_002274 KRT13,KRT13 EXON Missense_V426I,Missense_R417H exm1321818 17 39658653 [A/C] NM_153490,NM_002274 KRT13,KRT13 EXON Missense_R406L,Missense_R406L exm1321828 17 39658815 [A/G] NM_153490,NM_002274 KRT13,KRT13 EXON Missense_T352M,Missense_T352M exm1321830 17 39658953 [A/G] NM_153490,NM_002274 KRT13,KRT13 EXON Missense_S337P,Missense_S337P exm1321831 17 39658967 [T/C] NM_153490,NM_002274 KRT13,KRT13 EXON Missense_E332G,Missense_E332G exm2226358 17 39659015 [A/G] NM_153490,NM_002274 KRT13,KRT13 EXON Missense_T316I,Missense_T316I exm1321838 17 39659194 [T/C] NM_153490,NM_002274 KRT13,KRT13 EXON Missense_T298A,Missense_T298A exm1885976 17 39659245 [A/G] NM_153490,NM_002274 KRT13,KRT13 EXON Missense_Y281H,Missense_Y281H exm1321843 17 39659271 [T/C] NM_153490,NM_002274 KRT13,KRT13 EXON Missense_R272H,Missense_R272H exm1321846 17 39659320 [T/C] NM_153490,NM_002274 KRT13,KRT13 EXON Missense_G256S,Missense_G256S exm1321855 17 39659636 [T/C] NM_153490,NM_002274 KRT13,KRT13 EXON Missense_R213Q,Missense_R213Q exm1321856 17 39659637 [A/G] NM_153490,NM_002274 KRT13,KRT13 EXON Missense_R213W,Missense_R213W exm1321860 17 39659913 [A/G] NM_153490,NM_002274 KRT13,KRT13 EXON Missense_A187V,Missense_A187V exm1321863 17 39659964 [G/C] NM_153490,NM_002274 KRT13,KRT13 EXON Missense_T170S,Missense_T170S exm1321865 17 39659968 [T/C] NM_153490,NM_002274 KRT13,KRT13 EXON Missense_A169T,Missense_A169T exm1321871 17 39661393 [T/C] NM_153490,NM_002274 KRT13,KRT13 EXON Missense_R137H,Missense_R137H exm1321872 17 39661394 [A/G] NM_153490,NM_002274 KRT13,KRT13 EXON Missense_R137C,Missense_R137C exm1321884 17 39661604 [T/C] NM_153490,NM_002274 KRT13,KRT13 EXON Missense_G67S,Missense_G67S exm1321898 17 39670912 [G/C] NM_002275 KRT15 EXON Missense_A421G exm1321899 17 39670915 [A/G] NM_002275 KRT15 EXON Missense_I420T exm1321904 17 39671724 [T/C] NM_002275 KRT15 EXON Missense_K416R exm2276511 17 39671917 [C/G] NM_002275 KRT15 EXON Missense_E352Q exm1321920 17 39672180 [A/G] NM_002275 KRT15 EXON Missense_T328M exm1321921 17 39672184 [A/G] NM_002275 KRT15 EXON Missense_R327C exm2226360 17 39672190 [T/G] NM_002275 KRT15 EXON Missense_L325M exm1321932 17 39672399 [A/G] NM_002275 KRT15 EXON Missense_A286V exm1321941 17 39673065 [T/C] NM_002275 KRT15 EXON Missense_E245K exm1321947 17 39673185 [T/C] NM_002275 KRT15 EXON Missense_V205I exm1321948 17 39673193 [T/C] NM_002275 KRT15 EXON Missense_R202H exm1321950 17 39673200 [T/C] NM_002275 KRT15 EXON Missense_A200T exm1886011 17 39673366 [G/C] NM_002275 KRT15 EXON Missense_A184P exm1321959 17 39674589 [T/C] NM_002275 KRT15 EXON Missense_R164Q exm1321960 17 39674590 [A/G] NM_002275 KRT15 EXON Missense_R164W exm1321961 17 39674602 [T/C] NM_002275 KRT15 EXON Missense_I160V exm1321963 17 39674641 [T/C] NM_002275 KRT15 EXON Missense_T147A exm1321970 17 39674736 [T/C] NM_002275 KRT15 EXON Missense_R115H exm1321971 17 39674737 [A/G] NM_002275 KRT15 EXON Missense_R115C exm1321978 17 39674791 [T/C] NM_002275 KRT15 EXON Missense_D97N exm1321992 17 39674956 [A/G] NM_002275 KRT15 EXON Nonsense_R42X exm1321994 17 39674985 [T/C] NM_002275 KRT15 EXON Missense_G32E exm1321995 17 39674986 [A/C] NM_002275 KRT15 EXON Missense_G32W exm1321999 17 39675037 [T/C] NM_002275 KRT15 EXON Missense_G15S exm1322008 17 39680084 [A/G] NM_002276 KRT19 EXON Missense_R372W exm1322013 17 39680191 [A/G] NM_002276 KRT19 EXON Missense_A336V exm1322017 17 39680218 [A/G] NM_002276 KRT19 EXON Missense_T327M exm1322030 17 39680672 [T/C] NM_002276 KRT19 EXON Missense_E261K exm1322054 17 39681522 [A/G] NM_002276 KRT19 EXON Missense_L142F exm1322111 17 39724472 [A/G] NM_000226 KRT9 EXON Missense_R446W exm1322115 17 39724529 [A/G] NM_000226 KRT9 EXON Missense_R427W exm1322117 17 39724592 [A/G] NM_000226 KRT9 EXON Missense_C406R exm1322118 17 39724598 [A/G] NM_000226 KRT9 EXON Missense_R404C exm1322126 17 39724810 [A/G] NM_000226 KRT9 EXON Missense_R374W exm1322133 17 39725701 [T/C] NM_000226 KRT9 EXON Missense_I341V exm1322151 17 39726418 [A/G] NM_000226 KRT9 EXON Missense_R233C exm1886073 17 39727708 [A/G] NM_000226 KRT9 EXON Synonymous_N179N exm1886075 17 39727808 [T/C] NM_000226 KRT9 EXON Missense_G146D exm1322167 17 39727824 [A/C] NM_000226 KRT9 EXON Missense_A141S exm1322168 17 39727830 [A/C] NM_000226 KRT9 EXON Missense_G139C exm1322176 17 39728000 [T/C] NM_000226 KRT9 EXON Missense_S82N exm1322197 17 39738761 [A/G] NM_000526 KRT14 EXON Missense_R449C exm1322202 17 39739363 [T/G] NM_000526 KRT14 EXON Nonsense_S435X exm1322328 17 39767338 [T/C] NM_005557 KRT16 EXON Missense_T306A exm1322332 17 39767367 [A/G] NM_005557 KRT16 EXON Missense_M296T exm1322346 17 39767731 [A/G] NM_005557 KRT16 EXON Missense_R213W exm2253000 17 39775870 [T/C] NM_000422 KRT17 EXON Synonymous_E425E exm1886160 17 39777047 [T/C] NM_000422 KRT17 EXON Missense_V349M exm1322418 17 39777128 [T/C] NM_000422 KRT17 EXON Missense_A322T exm1322500 17 39871696 [G/C] NM_000805 GAST EXON Missense_R3P exm1322507 17 39871804 [A/G] NM_000805 GAST EXON Missense_N39S exm1322508 17 39871843 [A/C] NM_000805 GAST EXON Missense_P52Q exm2273550 17 39880545 [T/C] NM_001079870,NM_177977,NM_001079871 HAP1,HAP1,HAP1 EXON Silent,Silent,Silent exm1322521 17 39880958 [A/G] NM_001079870,NM_177977,NM_001079871 HAP1,HAP1,HAP1 EXON Nonsense_R602X,Nonsense_R619X,Nonsense_R594X exm1322523 17 39880966 [T/G] NM_001079870,NM_177977,NM_001079871 HAP1,HAP1,HAP1 EXON Nonsense_S599X,Nonsense_S616X,Nonsense_S591X exm1322524 17 39880981 [T/C] NM_001079870,NM_177977,NM_001079871 HAP1,HAP1,HAP1 EXON Missense_R594Q,Missense_R611Q,Missense_R586Q exm1322526 17 39881003 [T/C] NM_001079870,NM_177977,NM_001079871 HAP1,HAP1,HAP1 EXON Missense_G587R,Missense_G604R,Missense_G579R exm1322531 17 39881047 [T/C] NM_001079870,NM_177977,NM_001079871 HAP1,HAP1,HAP1 EXON Missense_R572Q,Missense_R589Q,Missense_R564Q exm1322538 17 39881201 [T/C] NM_001079870,NM_177977,NM_001079871 HAP1,HAP1,HAP1 EXON Missense_E521K,Missense_E538K,Missense_E513K exm1322543 17 39881251 [A/G] NM_001079870,NM_177977,NM_001079871 HAP1,HAP1,HAP1 EXON Missense_P504L,Missense_P521L,Missense_P496L exm1322546 17 39881289 [G/C] NM_001079870,NM_177977,NM_001079871 HAP1,HAP1,HAP1 EXON Missense_F491L,Missense_F508L,Missense_F483L exm1322548 17 39881299 [A/G] NM_001079870,NM_177977,NM_001079871 HAP1,HAP1,HAP1 EXON Missense_A488V,Missense_A505V,Missense_A480V exm1322550 17 39881305 [A/G] NM_001079870,NM_177977,NM_001079871 HAP1,HAP1,HAP1 EXON Missense_T486M,Missense_T503M,Missense_T478M exm1322551 17 39881327 [T/C] NM_001079870,NM_177977,NM_001079871 HAP1,HAP1,HAP1 EXON Missense_I479V,Missense_I496V,Missense_I471V exm1322569 17 39883350 [A/G] NM_001079870,NM_177977,NM_001079871 HAP1,HAP1,HAP1 EXON Missense_T424M,Missense_T441M,Missense_T416M exm1322587 17 39884065 [A/C] NM_001079870,NM_177977,NM_001079871 HAP1,HAP1,HAP1 EXON Silent,Missense_L408F,Silent exm1322594 17 39884497 [A/G] NM_001079870,NM_177977,NM_001079871 HAP1,HAP1,HAP1 EXON Missense_R394W,Missense_R386W,Missense_R386W exm1322599 17 39884583 [A/G] NM_001079870,NM_177977,NM_001079871 HAP1,HAP1,HAP1 EXON Missense_S365L,Missense_S357L,Missense_S357L exm1322616 17 39888292 [T/C] NM_001079870,NM_177977,NM_001079871 HAP1,HAP1,HAP1 EXON Missense_D273N,Missense_D265N,Missense_D265N exm1322619 17 39888372 [T/C] NM_001079870,NM_177977,NM_001079871 HAP1,HAP1,HAP1 Silent,Silent,Silent exm1322627 17 39888636 [T/G] NM_001079870,NM_177977,NM_001079871 HAP1,HAP1,HAP1 EXON Missense_P195H,Missense_P187H,Missense_P187H exm1322629 17 39888946 [A/C] NM_001079870,NM_177977,NM_001079871 HAP1,HAP1,HAP1 Silent,Silent,Silent exm1322637 17 39890541 [A/G] NM_001079870,NM_177977,NM_001079871 HAP1,HAP1,HAP1 EXON Missense_R116W,Missense_R116W,Missense_R116W exm1886278 17 39890576 [T/C] NM_001079870,NM_177977,NM_001079871 HAP1,HAP1,HAP1 EXON Nonsense_W104X,Nonsense_W104X,Nonsense_W104X exm1322645 17 39890715 [T/A] NM_001079870,NM_177977,NM_001079871 HAP1,HAP1,HAP1 EXON Missense_S58T,Missense_S58T,Missense_S58T exm1322647 17 39890726 [C/G] NM_001079870,NM_177977,NM_001079871 HAP1,HAP1,HAP1 EXON Missense_A54G,Missense_A54G,Missense_A54G exm2274937 17 39890823 [A/C] NM_001079870,NM_177977,NM_001079871 HAP1,HAP1,HAP1 EXON Missense_A22S,Missense_A22S,Missense_A22S exm1322655 17 39890876 [T/C] NM_001079870,NM_177977,NM_001079871 HAP1,HAP1,HAP1 EXON Missense_K4R,Missense_K4R,Missense_K4R exm1322660 17 39912027 [A/G] NM_021991,NM_002230 JUP,JUP EXON Missense_P736L,Missense_P736L exm1322669 17 39912444 [T/C] NM_021991,NM_002230 JUP,JUP EXON Missense_N690S,Missense_N690S exm1322670 17 39912454 [T/C] NM_021991,NM_002230 JUP,JUP EXON Missense_I687V,Missense_I687V exm1322679 17 39913771 [T/C] NM_021991,NM_002230 JUP,JUP EXON Missense_V648I,Missense_V648I exm1322715 17 39919366 [T/C] NM_021991,NM_002230 JUP,JUP EXON Missense_V456I,Missense_V456I exm1322720 17 39919408 [A/T] NM_021991,NM_002230 JUP,JUP EXON Missense_I442F,Missense_I442F exm1322727 17 39919560 [T/C] NM_021991,NM_002230 JUP,JUP EXON Missense_S391N,Missense_S391N exm2226381 17 39921265 [A/G] NM_021991,NM_002230 JUP,JUP EXON Missense_Y322H,Missense_Y322H exm2274939 17 39921271 [A/G] NM_021991,NM_002230 JUP,JUP EXON Missense_R320C,Missense_R320C exm1322742 17 39923648 [T/C] NM_021991,NM_002230 JUP,JUP EXON Missense_G298S,Missense_G298S exm1322750 17 39925234 [T/C] NM_021991,NM_002230 JUP,JUP EXON Missense_V232I,Missense_V232I exm1322756 17 39925350 [A/G] NM_021991,NM_002230 JUP,JUP EXON Missense_M193T,Missense_M193T exm2253001 17 39925382 [T/C] NM_021991,NM_002230 JUP,JUP EXON Synonymous_S182S,Synonymous_S182S exm1322762 17 39925382 [T/C] NM_021991,NM_002230 JUP,JUP EXON Synonymous_S182S,Synonymous_S182S exm1322765 17 39925399 [A/G] NM_021991,NM_002230 JUP,JUP EXON Missense_R177W,Missense_R177W exm1322766 17 39925401 [T/C] NM_021991,NM_002230 JUP,JUP EXON Missense_R176Q,Missense_R176Q exm1322775 17 39925713 [T/C] NM_021991,NM_002230 JUP,JUP EXON Missense_R142H,Missense_R142H exm1322780 17 39925786 [T/C] NM_021991,NM_002230 JUP,JUP EXON Missense_E118K,Missense_E118K exm2268005 17 39959433 [A/G] NM_006455 LEPREL4 Silent exm1322830 17 39965958 [A/G] NM_006455 LEPREL4 EXON Synonymous_L306L exm1322859 17 39967409 [A/G] NM_006455 LEPREL4 EXON Missense_T197M exm1322861 17 39967442 [T/C] NM_006455 LEPREL4 EXON Missense_Q186R exm1322863 17 39967511 [A/G] NM_006455 LEPREL4 EXON Missense_A163V exm1322868 17 39967794 [T/G] NM_006455 LEPREL4 EXON Missense_A125D exm1886380 17 39969369 [A/G] NM_021939 FKBP10 EXON Missense_G28E exm1322892 17 39969495 [A/G] NM_021939 FKBP10 EXON Missense_N70S exm1322900 17 39973374 [T/C] NM_021939 FKBP10 EXON Nonsense_R104X exm1886391 17 39974440 [T/C] NM_021939 FKBP10 EXON Missense_P164L exm1322928 17 39974642 [A/G] NM_021939 FKBP10 EXON Missense_K197R exm1322930 17 39974665 [A/G] NM_021939 FKBP10 EXON Missense_V205I exm2276512 17 39975563 [A/C] NM_021939 FKBP10 EXON Missense_P277T exm1322970 17 39976713 [T/C] NM_021939 FKBP10 EXON Missense_S419L exm1322989 17 39977960 [A/G] NM_021939 FKBP10 EXON Missense_R485Q exm1322995 17 39978052 [A/G] NM_021939 FKBP10 EXON Missense_E516K exm1323000 17 39978578 [A/G] NM_021939 FKBP10 EXON Missense_R556H exm1323019 17 39983700 [T/C] NM_052935,NR_033465,NR_033464 NT5C3B,NT5C3B,NT5C3B EXON Missense_K249R,Silent,Silent exm1323020 17 39983734 [T/C] NM_052935,NR_033465,NR_033464 NT5C3B,NT5C3B,NT5C3B EXON Missense_A238T,Silent,Silent exm1323023 17 39983808 [G/C] NM_052935,NR_033465,NR_033464 NT5C3B,NT5C3B,NT5C3B EXON Missense_S213C,Silent,Silent exm1323024 17 39983820 [A/G] NM_052935,NR_033465,NR_033464 NT5C3B,NT5C3B,NT5C3B EXON Missense_A209V,Silent,Silent exm2253003 17 39983849 [C/G] NM_052935,NR_033465,NR_033464 NT5C3B,NT5C3B,NT5C3B EXON Synonymous_L199L,Silent,Silent exm1323032 17 39985071 [T/C] NM_052935,NR_033465,NR_033464 NT5C3B,NT5C3B,NT5C3B EXON Missense_V180M,Silent,Silent exm1323034 17 39985107 [A/G] NM_052935,NR_033465,NR_033464 NT5C3B,NT5C3B,NT5C3B EXON Nonsense_R168X,Silent,Silent exm1323065 17 39992199 [A/G] NM_052935,NR_033465,NR_033464 NT5C3B,NT5C3B,NT5C3B EXON Missense_L8P,Silent,Silent exm1323070 17 39994200 [A/G] NM_152467 KLHL10 EXON Missense_A6T exm1323078 17 39998122 [A/T] NM_152467 KLHL10 EXON Missense_N81I exm1323079 17 39998134 [T/C] NM_152467 KLHL10 EXON Missense_I85T exm2274940 17 39998487 [A/G] NM_152467 KLHL10 EXON Missense_V203I exm1323086 17 39998527 [A/C] NM_152467 KLHL10 EXON Missense_Q216P exm1323097 17 40001642 [A/G] NM_152467 KLHL10 EXON Missense_R317G exm2274941 17 40001660 [T/C] NM_152467 KLHL10 EXON Missense_C323R exm1323100 17 40001763 [A/G] NM_152467 KLHL10 EXON Missense_K357R exm1323102 17 40001846 [A/G] NM_152467 KLHL10 EXON Missense_G385S exm1886439 17 40004245 [A/G] NM_152467 KLHL10 EXON Missense_N505D exm2226388 17 40004248 [A/G] NM_152467 KLHL10 EXON Missense_T506A exm1323125 17 40010029 [T/C] NM_018143 KLHL11 EXON Missense_N697S exm1323149 17 40010572 [A/G] NM_018143 KLHL11 EXON Missense_T516I exm1323171 17 40011409 [T/C] NM_018143 KLHL11 EXON Missense_Q237R exm1323183 17 40021316 [A/G] NM_018143 KLHL11 EXON Missense_A103V exm1323184 17 40021404 [T/G] NM_018143 KLHL11 EXON Missense_S74R exm1323225 17 40039454 [T/C] NM_198830,NM_001096 ACLY,ACLY EXON Missense_R719Q,Missense_R729Q exm1323227 17 40039467 [A/C] NM_198830,NM_001096 ACLY,ACLY EXON Missense_Y715D,Missense_Y725D exm1323235 17 40042392 [T/C] NM_198830,NM_001096 ACLY,ACLY EXON Missense_Y672C,Missense_Y682C exm1323248 17 40043952 [T/C] NM_198830,NM_001096 ACLY,ACLY EXON Missense_R582Q,Missense_R592Q exm1323256 17 40049320 [T/C] NM_198830,NM_001096 ACLY,ACLY EXON Missense_E513K,Missense_E523K exm1323259 17 40049386 [T/C] NM_198830,NM_001096 ACLY,ACLY EXON Missense_V491M,Missense_V501M exm1323260 17 40049404 [A/G] NM_198830,NM_001096 ACLY,ACLY EXON Missense_R485C,Missense_R495C exm1886523 17 40063720 [A/G] NM_198830,NM_001096 ACLY,ACLY EXON Missense_P241L,Missense_P241L exm1323297 17 40065774 [T/G] NM_198830,NM_001096 ACLY,ACLY EXON Missense_E175D,Missense_E175D exm1323314 17 40070029 [T/C] NM_198830,NM_001096 ACLY,ACLY EXON Missense_R33Q,Missense_R33Q exm1323318 17 40070098 [A/G] NM_198830,NM_001096 ACLY,ACLY EXON Missense_T10M,Missense_T10M exm1323320 17 40086978 [T/C] NM_031421 TTC25 EXON Missense_M1T exm1323322 17 40086986 [T/C] NM_031421 TTC25 EXON Missense_P4S exm1323325 17 40087031 [A/G] NM_031421 TTC25 EXON Missense_E19K exm1323326 17 40087038 [A/G] NM_031421 TTC25 EXON Missense_E21G exm1323328 17 40087047 [A/T] NM_031421 TTC25 EXON Missense_Y24F exm1323339 17 40091915 [T/C] NM_031421 TTC25 EXON Missense_Y104H exm1323352 17 40093141 [A/G] NM_031421 TTC25 EXON Missense_V196M exm1323358 17 40094864 [T/C] NM_031421 TTC25 EXON Missense_T227M exm1323361 17 40094933 [A/G] NM_031421 TTC25 EXON Missense_R250Q exm1323411 17 40107304 [A/G] NM_031421 TTC25 EXON Missense_H407R exm1323424 17 40117284 [T/C] NM_031421 TTC25 EXON Missense_L537P exm1323429 17 40117369 [T/A] NM_031421 TTC25 EXON Missense_R565S exm1323452 17 40120702 [A/G] NM_033133 CNP EXON Missense_Q207R exm1323453 17 40120718 [T/G] NM_033133 CNP EXON Missense_E212D exm2253004 17 40125561 [A/G] NM_033133 CNP EXON Synonymous_T295T exm1323469 17 40125589 [G/C] NM_033133 CNP EXON Missense_Q305E exm1323478 17 40125647 [T/C] NM_033133 CNP EXON Missense_P324L exm1323479 17 40125649 [T/C] NM_033133 CNP EXON Missense_R325W exm1323490 17 40125754 [T/C] NM_033133 CNP EXON Nonsense_R360X exm1886580 17 40125781 [T/C] NM_033133 CNP EXON Missense_R369W exm2253005 17 40128760 [T/C] NM_033133,NR_029431,NM_003315,NM_001144766 CNP,DNAJC7,DNAJC7,DNAJC7 EXON Silent,Silent,Synonymous_Q492Q,Synonymous_Q436Q exm1886587 17 40129324 [T/C] NM_033133,NR_029431,NM_003315,NM_001144766 CNP,DNAJC7,DNAJC7,DNAJC7 EXON Silent,Silent,Missense_I468V,Missense_I412V exm1323509 17 40134390 [C/G] NR_029431,NM_003315,NM_001144766 DNAJC7,DNAJC7,DNAJC7 EXON Silent,Missense_L372V,Missense_L316V exm1323527 17 40146904 [T/C] NR_029431,NM_003315,NM_001144766 DNAJC7,DNAJC7,DNAJC7 EXON Silent,Missense_K155R,Missense_K99R exm1886609 17 40173564 [A/G] NM_001001349,NM_001144928,NM_017595,NM_001144927,NM_001144929 NKIRAS2,NKIRAS2,NKIRAS2,NKIRAS2,NKIRAS2 EXON Silent,Silent,Silent,Silent,Silent exm1886620 17 40175689 [T/C] NM_001001349,NM_001144928,NM_017595,NM_001144927,NM_001144929 NKIRAS2,NKIRAS2,NKIRAS2,NKIRAS2,NKIRAS2 EXON Synonymous_L118L,Synonymous_L62L,Synonymous_L118L,Synonymous_L118L,Missense_L86S exm1323641 17 40253856 [A/G] NM_024119 DHX58 EXON Missense_R654C exm1323648 17 40254262 [A/C] NM_024119 DHX58 EXON Missense_G608V exm1323650 17 40254324 [C/G] NM_024119 DHX58 EXON Nonsense_Y587X exm1323655 17 40255743 [T/C] NM_024119 DHX58 EXON Missense_Q546R exm1886654 17 40256863 [A/G] NM_024119 DHX58 EXON Missense_I495T exm1323667 17 40256909 [T/C] NM_024119 DHX58 EXON Missense_A480T exm1323669 17 40256924 [T/C] NM_024119 DHX58 EXON Missense_D475N exm1323670 17 40256930 [A/G] NM_024119 DHX58 EXON Missense_R473W exm1323672 17 40257055 [T/C] NM_024119 DHX58 EXON Missense_N461S exm1323676 17 40257163 [T/C] NM_024119 DHX58 EXON Missense_Q425R exm1323678 17 40257785 [T/C] NM_024119 DHX58 EXON Missense_G407E exm1323679 17 40257809 [T/C] NM_024119 DHX58 EXON Missense_R399Q exm1323685 17 40257876 [A/G] NM_024119 DHX58 EXON Missense_R377C exm1323689 17 40258005 [A/G] NM_024119 DHX58 EXON Missense_R334C exm1323711 17 40261382 [T/C] NM_024119 DHX58 EXON Nonsense_W195X exm1323712 17 40262742 [T/C] NM_024119 DHX58 EXON Missense_Q187R exm1323713 17 40262767 [T/C] NM_024119 DHX58 EXON Missense_D179N exm1323715 17 40262775 [A/G] NM_024119 DHX58 EXON Missense_S176F exm1323716 17 40262782 [T/C] NM_024119 DHX58 EXON Missense_G174R exm1323719 17 40262830 [A/G] NM_024119 DHX58 EXON Nonsense_Q158X exm1323721 17 40262893 [A/G] NM_024119 DHX58 EXON Missense_H137Y exm1323722 17 40262895 [A/G] NM_024119 DHX58 EXON Missense_T136M exm1323723 17 40262917 [T/C] NM_024119 DHX58 EXON Missense_V129M exm1323726 17 40263400 [T/C] NM_024119 DHX58 EXON Missense_R95Q exm1323727 17 40263409 [T/C] NM_024119 DHX58 EXON Missense_H92R exm1323729 17 40263458 [T/C] NM_024119 DHX58 EXON Missense_T76A exm1323730 17 40263464 [A/G] NM_024119 DHX58 EXON Missense_R74C exm1323734 17 40263478 [T/C] NM_024119 DHX58 EXON Missense_R69H exm1323737 17 40263515 [T/C] NM_024119 DHX58 EXON Missense_V57M exm1323750 17 40263887 [G/C] NM_024119 DHX58 EXON Missense_W8C exm1323762 17 40265828 [A/G] NM_021078 KAT2A EXON Missense_R785C exm1323766 17 40266059 [A/G] NM_021078 KAT2A EXON Missense_S760L exm1323797 17 40269108 [G/C] NM_021078 KAT2A EXON Missense_T570S exm1323805 17 40269533 [T/C] NM_021078 KAT2A EXON Missense_I504V exm1323818 17 40270320 [T/C] NM_021078 KAT2A EXON Missense_R392Q exm1323830 17 40272106 [T/C] NM_021078 KAT2A EXON Missense_R214Q exm1323838 17 40272817 [T/C] NM_021078 KAT2A EXON Missense_K124E exm1323851 17 40274873 [A/C] NM_033194 HSPB9 EXON Missense_Q2P exm1323853 17 40274891 [T/C] NM_033194 HSPB9 EXON Missense_F8S exm1886727 17 40275127 [A/G] NM_033194 HSPB9 EXON Missense_V87I exm1323862 17 40275163 [T/C] NM_033194 HSPB9 EXON Nonsense_Q99X exm1323864 17 40275167 [A/G] NM_033194 HSPB9 EXON Missense_K100R exm1323865 17 40275168 [C/G] NM_033194 HSPB9 EXON Missense_K100N exm1886729 17 40275217 [T/C] NM_033194 HSPB9 EXON Missense_C117R exm1323871 17 40275248 [T/C] NM_033194 HSPB9 EXON Missense_V127A exm1323884 17 40277865 [T/C] NM_004583,NM_001252039,NM_201434 RAB5C,RAB5C,RAB5C EXON Missense_R196Q,Missense_R229Q,Missense_R196Q exm1323885 17 40277866 [C/G] NM_004583,NM_001252039,NM_201434 RAB5C,RAB5C,RAB5C EXON Missense_R196G,Missense_R229G,Missense_R196G exm2253007 17 40282410 [A/G] NM_004583,NM_001252039,NM_201434 RAB5C,RAB5C,RAB5C EXON Synonymous_L37L,Synonymous_L70L,Synonymous_L37L exm1886749 17 40282410 [A/G] NM_004583,NM_001252039,NM_201434 RAB5C,RAB5C,RAB5C EXON Synonymous_L37L,Synonymous_L70L,Synonymous_L37L exm1323902 17 40282486 [T/C] NM_004583,NM_001252039,NM_201434 RAB5C,RAB5C,RAB5C EXON Missense_G12E,Missense_G45E,Missense_G12E exm1886753 17 40312063 [A/G] NM_012285 KCNH4 EXON Missense_H1017Y exm1323911 17 40312348 [T/C] NM_012285 KCNH4 EXON Missense_A922T exm1323941 17 40316177 [A/G] NM_012285 KCNH4 EXON Missense_R699C exm1323953 17 40318316 [T/C] NM_012285 KCNH4 EXON Synonymous_L613L exm1323957 17 40318398 [T/C] NM_012285 KCNH4 EXON Missense_R586H exm1323962 17 40318431 [A/G] NM_012285 KCNH4 EXON Missense_S575L exm1323970 17 40321553 [T/C] NM_012285 KCNH4 EXON Missense_R511H exm1323971 17 40321554 [A/G] NM_012285 KCNH4 EXON Missense_R511C exm1323974 17 40321568 [T/C] NM_012285 KCNH4 EXON Missense_R506Q exm1323988 17 40322126 [A/G] NM_012285 KCNH4 EXON Synonymous_G463G exm1324006 17 40323844 [T/C] NM_012285 KCNH4 EXON Missense_R386Q exm1324024 17 40328183 [T/C] NM_012285 KCNH4 EXON Missense_V240I exm2253008 17 40330238 [T/G] NM_012285 KCNH4 EXON Synonymous_S155S exm1324041 17 40330841 [G/C] NM_012285 KCNH4 EXON Missense_R94G exm1324075 17 40341789 [A/G] NR_024573,NM_001142623,NM_032484,NM_001142622 GHDC,GHDC,GHDC,GHDC EXON Silent,Silent,Missense_P509S,Missense_P470S exm1324079 17 40341894 [A/G] NR_024573,NM_001142623,NM_032484,NM_001142622 GHDC,GHDC,GHDC,GHDC EXON Silent,Silent,Missense_R474W,Missense_R435W exm1324080 17 40341908 [T/C] NR_024573,NM_001142623,NM_032484,NM_001142622 GHDC,GHDC,GHDC,GHDC EXON Silent,Silent,Missense_R469H,Missense_R430H exm1324081 17 40341909 [A/G] NR_024573,NM_001142623,NM_032484,NM_001142622 GHDC,GHDC,GHDC,GHDC EXON Silent,Silent,Missense_R469C,Missense_R430C exm1324083 17 40342211 [A/G] NR_024573,NM_001142623,NM_032484,NM_001142622 GHDC,GHDC,GHDC,GHDC EXON Silent,Silent,Nonsense_R456X,Nonsense_R417X exm1324086 17 40342246 [A/G] NR_024573,NM_001142623,NM_032484,NM_001142622 GHDC,GHDC,GHDC,GHDC EXON Silent,Missense_R474C,Missense_A444V,Missense_A405V exm1324087 17 40342247 [T/C] NR_024573,NM_001142623,NM_032484,NM_001142622 GHDC,GHDC,GHDC,GHDC EXON Silent,Nonsense_W473X,Missense_A444T,Missense_A405T exm1324088 17 40342279 [A/G] NR_024573,NM_001142623,NM_032484,NM_001142622 GHDC,GHDC,GHDC,GHDC EXON Silent,Missense_R463W,Missense_A433V,Missense_A394V exm1324096 17 40342758 [T/C] NR_024573,NM_001142623,NM_032484,NM_001142622 GHDC,GHDC,GHDC,GHDC EXON Silent,Missense_S391N,Missense_S391N,Missense_S352N exm1324099 17 40342868 [A/C] NR_024573,NM_001142623,NM_032484,NM_001142622 GHDC,GHDC,GHDC,GHDC EXON Silent,Missense_V379G,Missense_V379G,Missense_V340G exm1324111 17 40343052 [A/G] NR_024573,NM_001142623,NM_032484,NM_001142622 GHDC,GHDC,GHDC,GHDC EXON Silent,Missense_R356C,Missense_R356C,Missense_R317C exm1886811 17 40344442 [A/G] NR_024573,NM_001142623,NM_032484,NM_001142622 GHDC,GHDC,GHDC,GHDC EXON Silent,Missense_R236W,Missense_R236W,Missense_R197W exm1324134 17 40344469 [T/C] NR_024573,NM_001142623,NM_032484,NM_001142622 GHDC,GHDC,GHDC,GHDC EXON Silent,Missense_G227R,Missense_G227R,Missense_G188R exm1324136 17 40344516 [A/G] NR_024573,NM_001142623,NM_032484,NM_001142622 GHDC,GHDC,GHDC,GHDC EXON Silent,Missense_L211S,Missense_L211S,Missense_L172S exm1324142 17 40344643 [T/G] NR_024573,NM_001142623,NM_032484,NM_001142622 GHDC,GHDC,GHDC,GHDC EXON Silent,Missense_N169H,Missense_N169H,Missense_N130H exm1324153 17 40345030 [A/C] NR_024573,NM_001142623,NM_032484,NM_001142622 GHDC,GHDC,GHDC,GHDC EXON Silent,Missense_R94L,Missense_R94L,Missense_R94L exm1324157 17 40345488 [A/G] NR_024573,NM_001142623,NM_032484,NM_001142622 GHDC,GHDC,GHDC,GHDC EXON Silent,Nonsense_R38X,Nonsense_R38X,Nonsense_R38X exm1324202 17 40370280 [T/C] NM_012448 STAT5B EXON Missense_R353H exm1324225 17 40376874 [A/G] NM_012448 STAT5B EXON Missense_R100C exm2226407 17 40441981 [A/G] NM_003152 STAT5A EXON Missense_V76M exm1324254 17 40451799 [T/C] NM_003152 STAT5A EXON Missense_P194L exm2253009 17 40453452 [T/C] NM_003152 STAT5A EXON Synonymous_L383L exm1324277 17 40453469 [A/G] NM_003152 STAT5A EXON Missense_R389H exm1324330 17 40462611 [A/G] NM_003152 STAT5A EXON Missense_R770Q exm1324333 17 40462641 [T/C] NM_003152 STAT5A EXON Missense_S780L exm2268044 17 40466092 [A/G] NM_139276,NM_213662,NM_003150 STAT3,STAT3,STAT3 EXON Silent,Silent,Silent exm1324342 17 40467788 [A/G] NM_139276,NM_213662,NM_003150 STAT3,STAT3,STAT3 EXON Missense_S763L,Silent,Missense_S762L exm1324366 17 40476837 [T/C] NM_139276,NM_213662,NM_003150 STAT3,STAT3,STAT3 EXON Missense_I498V,Missense_I498V,Missense_I498V exm1324367 17 40477064 [C/G] NM_139276,NM_213662,NM_003150 STAT3,STAT3,STAT3 EXON Missense_V461L,Missense_V461L,Missense_V461L exm-rs744166 17 40514201 [A/G] NM_139276,NM_213662,NM_003150 STAT3,STAT3,STAT3 Silent,Silent,Silent exm2268006 17 40529835 [A/G] NM_139276,NM_213662,NM_003150 STAT3,STAT3,STAT3 Silent,Silent,Silent exm1324419 17 40556776 [T/C] NM_012232 PTRF EXON Missense_D368N exm1324430 17 40556955 [T/C] NM_012232 PTRF EXON Missense_Y308C exm1324437 17 40557149 [G/C] NM_012232 PTRF EXON Missense_K243N exm1324441 17 40557231 [A/G] NM_012232 PTRF EXON Missense_S216F exm1324447 17 40557364 [C/G] NM_012232 PTRF EXON Missense_L172V exm-rs11871801 17 40570772 [A/C] NM_012232 PTRF Silent exm1324451 17 40574654 [C/G] NM_012232 PTRF EXON Missense_M154I exm1324452 17 40574670 [A/C] NM_012232 PTRF EXON Missense_R149L exm1324459 17 40574739 [A/C] NM_012232 PTRF EXON Missense_G126V exm1324460 17 40574760 [A/T] NM_012232 PTRF EXON Missense_V119D exm1324464 17 40574877 [C/G] NM_012232 PTRF EXON Missense_A80G exm1324471 17 40574948 [T/G] NM_012232 PTRF EXON Missense_S56R exm1324477 17 40575051 [A/G] NM_012232 PTRF EXON Missense_P22L exm1324478 17 40575061 [T/C] NM_012232 PTRF EXON Missense_A19T exm1324479 17 40612929 [A/G] NM_001130020,NM_001130021,NM_005177 ATP6V0A1,ATP6V0A1,ATP6V0A1 EXON Missense_R6Q,Missense_R6Q,Missense_R6Q exm2226412 17 40612932 [A/G] NM_001130020,NM_001130021,NM_005177 ATP6V0A1,ATP6V0A1,ATP6V0A1 EXON Missense_S7N,Missense_S7N,Missense_S7N exm1324486 17 40620113 [A/G] NM_001130020,NM_001130021,NM_005177 ATP6V0A1,ATP6V0A1,ATP6V0A1 EXON Missense_M94I,Missense_M94I,Missense_M94I exm1324491 17 40629682 [T/C] NM_001130020,NM_001130021,NM_005177 ATP6V0A1,ATP6V0A1,ATP6V0A1 EXON Missense_A150V,Missense_A143V,Missense_A143V exm1324517 17 40646463 [A/G] NM_001130020,NM_001130021,NM_005177 ATP6V0A1,ATP6V0A1,ATP6V0A1 EXON Missense_R436Q,Missense_R429Q,Missense_R429Q exm1324529 17 40651060 [T/C] NM_001130020,NM_001130021,NM_005177 ATP6V0A1,ATP6V0A1,ATP6V0A1 EXON Missense_I567T,Missense_I560T,Missense_I560T exm1324531 17 40652819 [T/C] NM_001130020,NM_001130021,NM_005177 ATP6V0A1,ATP6V0A1,ATP6V0A1 EXON Missense_Y599H,Missense_Y592H,Missense_Y592H exm1324532 17 40652829 [T/C] NM_001130020,NM_001130021,NM_005177 ATP6V0A1,ATP6V0A1,ATP6V0A1 EXON Missense_T602M,Missense_T595M,Missense_T595M exm1324536 17 40652924 [A/G] NM_001130020,NM_001130021,NM_005177 ATP6V0A1,ATP6V0A1,ATP6V0A1 EXON Missense_M634V,Missense_M627V,Missense_M627V exm1324537 17 40653240 [T/C] NM_001130020,NM_001130021,NM_005177 ATP6V0A1,ATP6V0A1,ATP6V0A1 EXON Missense_V648A,Missense_V641A,Missense_V641A exm1324544 17 40659622 [A/G] NM_001130020,NM_001130021,NM_005177 ATP6V0A1,ATP6V0A1,ATP6V0A1 EXON Missense_T704A,Missense_T697A,Missense_T697A exm1324553 17 40666367 [T/C] NM_001130020,NM_001130021,NM_005177 ATP6V0A1,ATP6V0A1,ATP6V0A1 EXON Missense_A771V,Missense_A770V,Missense_A764V exm1324555 17 40666378 [A/G] NM_001130020,NM_001130021,NM_005177 ATP6V0A1,ATP6V0A1,ATP6V0A1 EXON Missense_V775M,Missense_V774M,Missense_V768M exm1324564 17 40689453 [T/A] NM_000263 NAGLU EXON Missense_S141T exm1324583 17 40693048 [T/C] NM_000263 NAGLU EXON Missense_A282V exm1324607 17 40695346 [T/C] NM_000263 NAGLU EXON Missense_T441M exm1324608 17 40695370 [A/G] NM_000263 NAGLU EXON Missense_S449N exm1324614 17 40695462 [A/G] NM_000263 NAGLU EXON Missense_A480T exm1324643 17 40695858 [A/G] NM_000263 NAGLU EXON Missense_S612G exm2253012 17 40695863 [T/C] NM_000263 NAGLU EXON Synonymous_D613D exm1324645 17 40695867 [T/C] NM_000263 NAGLU EXON Missense_R615C exm1324649 17 40695904 [T/C] NM_000263 NAGLU EXON Missense_A627V exm1324653 17 40695946 [A/C] NM_000263 NAGLU EXON Missense_N641T exm1324663 17 40696209 [A/C] NM_000263 NAGLU EXON Missense_K729Q exm2253013 17 40704978 [T/C] NM_000413 HSD17B1 EXON Synonymous_T9T exm1324674 17 40705013 [T/C] NM_000413 HSD17B1 EXON Missense_V21A exm1324704 17 40706455 [T/C] NM_000413 HSD17B1 EXON Missense_T191I exm1324713 17 40706596 [T/C] NM_000413 HSD17B1 EXON Missense_A238V exm1324717 17 40706730 [A/C] NM_000413 HSD17B1 EXON Missense_Y254S exm1324719 17 40706769 [T/G] NM_000413 HSD17B1 EXON Missense_R267L exm-rs605059 17 40706906 [A/G] NM_000413 HSD17B1 EXON Missense_G313S exm1887075 17 40714478 [T/G] NM_001042529,NM_001042532,NM_025233 COASY,COASY,COASY EXON Silent,Missense_A17S,Silent exm1887081 17 40714796 [C/G] NM_001042529,NM_001042532,NM_025233 COASY,COASY,COASY EXON Missense_Q52H,Missense_Q81H,Missense_Q52H exm1324746 17 40714804 [A/C] NM_001042529,NM_001042532,NM_025233 COASY,COASY,COASY EXON Missense_S55Y,Missense_S84Y,Missense_S55Y exm1324749 17 40714851 [T/C] NM_001042529,NM_001042532,NM_025233 COASY,COASY,COASY EXON Missense_L71F,Missense_L100F,Missense_L71F exm1324754 17 40714887 [T/G] NM_001042529,NM_001042532,NM_025233 COASY,COASY,COASY EXON Missense_V83F,Missense_V112F,Missense_V83F exm1324771 17 40716080 [T/C] NM_001042529,NM_001042532,NM_025233 COASY,COASY,COASY EXON Missense_P268S,Missense_P297S,Missense_P268S exm1324787 17 40716588 [T/C] NM_001042529,NM_001042532,NM_025233 COASY,COASY,COASY EXON Missense_P347L,Missense_P376L,Missense_P347L exm1324790 17 40716862 [A/G] NM_001042529,NM_001042532,NM_025233 COASY,COASY,COASY EXON Missense_A395T,Missense_A424T,Missense_A395T exm1324791 17 40716874 [C/G] NM_001042529,NM_001042532,NM_025233 COASY,COASY,COASY EXON Missense_G399R,Missense_G428R,Missense_G399R exm1324795 17 40717048 [T/C] NM_001042529,NM_001042532,NM_025233 COASY,COASY,COASY EXON Missense_R429W,Missense_R458W,Missense_R429W exm1324799 17 40717277 [C/G] NM_001042529,NM_001042532,NM_025233 COASY,COASY,COASY EXON Missense_W445C,Missense_W474C,Missense_W445C exm1324804 17 40717487 [A/G] NM_001042529,NM_001042532,NM_025233 COASY,COASY,COASY Silent,Silent,Silent exm1324825 17 40717957 [A/G] NM_001042529,NM_001042532,NM_025233 COASY,COASY,COASY EXON Missense_I556V,Missense_I585V,Missense_I556V exm1324827 17 40719173 [T/C] NM_170607,NM_198204,NM_198205 MLX,MLX,MLX EXON Missense_P11S,Missense_P11S,Missense_P11S exm1324837 17 40720544 [A/G] NM_170607,NM_198204,NM_198205 MLX,MLX,MLX EXON Missense_G100S,Missense_G46S,Silent exm1324845 17 40721249 [A/G] NM_170607,NM_198204,NM_198205 MLX,MLX,MLX EXON Missense_V156I,Missense_V102I,Missense_V72I exm1324855 17 40722029 [A/G] NM_170607,NM_198204,NM_198205 MLX,MLX,MLX EXON Missense_Q223R,Missense_Q169R,Missense_Q139R exm1324871 17 40725043 [T/C] NM_170607,NM_198204,NM_198205,NM_013290,NM_016556,NR_045669,NR_045670,NR_045671,NM_001256016,NM_001256015,NM_001256014 MLX,MLX,MLX,PSMC3IP,PSMC3IP,PSMC3IP,PSMC3IP,PSMC3IP,PSMC3IP,PSMC3IP,PSMC3IP EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm1324881 17 40725379 [A/T] NM_013290,NM_016556,NR_045669,NR_045670,NR_045671,NM_001256016,NM_001256015,NM_001256014 PSMC3IP,PSMC3IP,PSMC3IP,PSMC3IP,PSMC3IP,PSMC3IP,PSMC3IP,PSMC3IP EXON Missense_Y151N,Missense_Y163N,Silent,Silent,Silent,Missense_Y84N,Missense_Y84N,Missense_Y100N exm2272517 17 40725799 [T/C] NM_013290,NM_016556,NR_045669,NR_045670,NR_045671,NM_001256016,NM_001256015,NM_001256014 PSMC3IP,PSMC3IP,PSMC3IP,PSMC3IP,PSMC3IP,PSMC3IP,PSMC3IP,PSMC3IP Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm1324889 17 40726131 [T/C] NM_013290,NM_016556,NR_045669,NR_045670,NR_045671,NM_001256016,NM_001256015,NM_001256014 PSMC3IP,PSMC3IP,PSMC3IP,PSMC3IP,PSMC3IP,PSMC3IP,PSMC3IP,PSMC3IP EXON Missense_R108H,Missense_R108H,Silent,Silent,Silent,Missense_R29H,Missense_R29H,Missense_R45H exm1324898 17 40729267 [A/C] NM_013290,NM_016556,NR_045669,NR_045670,NR_045671,NM_001256016,NM_001256015,NM_001256014 PSMC3IP,PSMC3IP,PSMC3IP,PSMC3IP,PSMC3IP,PSMC3IP,PSMC3IP,PSMC3IP EXON Missense_K63N,Missense_K63N,Silent,Silent,Silent,Silent,Silent,Silent exm1324902 17 40729692 [A/G] NM_013290,NM_016556,NR_045669,NR_045670,NR_045671,NM_001256016,NM_001256015,NM_001256014 PSMC3IP,PSMC3IP,PSMC3IP,PSMC3IP,PSMC3IP,PSMC3IP,PSMC3IP,PSMC3IP EXON Missense_R5W,Missense_R5W,Silent,Silent,Silent,Silent,Silent,Silent exm1324913 17 40733952 [T/G] NR_026697,NM_178126 FAM134C,FAM134C EXON Silent,Missense_T427K exm1324914 17 40733970 [T/G] NR_026697,NM_178126 FAM134C,FAM134C EXON Silent,Missense_A421E exm1324917 17 40733994 [A/G] NR_026697,NM_178126 FAM134C,FAM134C EXON Silent,Missense_A413V exm1324924 17 40734132 [G/C] NR_026697,NM_178126 FAM134C,FAM134C EXON Silent,Missense_P367R exm1324926 17 40734156 [T/C] NR_026697,NM_178126 FAM134C,FAM134C EXON Silent,Missense_R359H exm1324931 17 40734236 [A/G] NR_026697,NM_178126 FAM134C,FAM134C EXON Silent,Synonymous_D332D exm1324932 17 40734695 [C/G] NR_026697,NM_178126 FAM134C,FAM134C EXON Silent,Missense_E314Q exm1887148 17 40734767 [T/C] NR_026697,NM_178126 FAM134C,FAM134C EXON Silent,Missense_A290T exm2274942 17 40737170 [T/G] NR_026697,NM_178126 FAM134C,FAM134C EXON Silent,Missense_M234L exm1324951 17 40737178 [T/C] NR_026697,NM_178126 FAM134C,FAM134C EXON Silent,Missense_R231H exm1324953 17 40737197 [A/G] NR_026697,NM_178126 FAM134C,FAM134C EXON Silent,Missense_R225W exm1887154 17 40738142 [T/C] NR_026697,NM_178126 FAM134C,FAM134C EXON Silent,Missense_S173N exm1324972 17 40761279 [A/G] NR_026697,NM_178126 FAM134C,FAM134C EXON Silent,Missense_R22C exm1325019 17 40767021 [T/C] NM_001070 TUBG1 EXON Missense_R440W exm1325055 17 40817712 [T/C] NM_016437 TUBG2 EXON Missense_S237L exm1325079 17 40818699 [A/G] NM_016437 TUBG2 EXON Missense_M413V exm1325081 17 40818757 [T/C] NM_016437 TUBG2 EXON Missense_I432T exm2226424 17 40820198 [T/C] NR_073573,NR_073574,NM_024927 PLEKHH3,PLEKHH3,PLEKHH3 EXON Silent,Silent,Missense_G777S exm1325097 17 40820246 [A/G] NR_073573,NR_073574,NM_024927 PLEKHH3,PLEKHH3,PLEKHH3 EXON Silent,Silent,Missense_P761S exm1887250 17 40821603 [T/C] NR_073573,NR_073574,NM_024927 PLEKHH3,PLEKHH3,PLEKHH3 EXON Silent,Silent,Missense_G684S exm1325102 17 40821633 [A/C] NR_073573,NR_073574,NM_024927 PLEKHH3,PLEKHH3,PLEKHH3 EXON Silent,Silent,Missense_G674C exm1325136 17 40823523 [T/C] NR_073573,NR_073574,NM_024927 PLEKHH3,PLEKHH3,PLEKHH3 EXON Silent,Silent,Missense_R377Q exm1325155 17 40825305 [T/C] NR_073573,NR_073574,NM_024927 PLEKHH3,PLEKHH3,PLEKHH3 EXON Silent,Silent,Missense_G220R exm1325181 17 40831590 [C/G] NM_016602 CCR10 EXON Missense_S357T exm1325186 17 40831684 [A/G] NM_016602 CCR10 EXON Missense_R326W exm1325199 17 40832326 [T/G] NM_016602 CCR10 EXON Missense_T112P exm1325211 17 40833834 [A/G] NM_016602 CCR10 EXON Missense_T3M exm1325214 17 40834864 [T/C] NM_003632 CNTNAP1 EXON Missense_L6P exm1325241 17 40838154 [T/A] NM_003632 CNTNAP1 EXON Missense_T299S exm1325259 17 40840590 [C/G] NM_003632 CNTNAP1 EXON Missense_P473A exm1325268 17 40841001 [G/C] NM_003632 CNTNAP1 EXON Missense_V522L exm1325269 17 40841014 [A/G] NM_003632 CNTNAP1 EXON Missense_R526Q exm1325273 17 40841616 [T/C] NM_003632 CNTNAP1 EXON Missense_T569M exm1325328 17 40844689 [A/G] NM_003632 CNTNAP1 EXON Missense_M901I exm1325329 17 40845366 [A/G] NM_003632 CNTNAP1 EXON Missense_R935H exm1325332 17 40845395 [A/G] NM_003632 CNTNAP1 EXON Missense_G945S exm1325358 17 40847887 [A/G] NM_003632 CNTNAP1 EXON Missense_D1114G exm1325361 17 40848114 [A/G] NM_003632 CNTNAP1 EXON Missense_D1140N exm1325371 17 40849573 [A/G] NM_003632 CNTNAP1 EXON Synonymous_E1190E exm1325395 17 40850768 [T/C] NM_003632 CNTNAP1 EXON Missense_P1332L exm1325436 17 40870600 [C/G] NM_001991 EZH1 EXON Missense_A268G exm1325452 17 40879667 [T/G] NM_001991 EZH1 EXON Missense_P78T exm1325453 17 40879674 [T/A] NM_001991 EZH1 EXON Missense_S75R exm2226432 17 40925831 [A/G] NM_032353 VPS25 EXON Missense_K45R exm1325494 17 40926690 [A/G] NM_032353 VPS25 EXON Missense_I76V exm1325502 17 40931055 [A/G] NM_032353 VPS25 EXON Missense_V167I exm1325507 17 40932732 [A/G] NM_032387 WNK4 EXON Missense_A6T exm1325508 17 40932763 [T/C] NM_032387 WNK4 EXON Missense_T16I exm1325511 17 40932955 [A/C] NM_032387 WNK4 EXON Missense_A80D exm1325520 17 40934873 [C/G] NM_032387 WNK4 EXON Missense_S239W exm1325564 17 40939393 [A/G] NM_032387 WNK4 EXON Missense_R525H exm1325572 17 40939485 [A/C] NM_032387 WNK4 EXON Missense_P556T exm1325578 17 40939855 [T/G] NM_032387 WNK4 EXON Missense_A601S exm1325581 17 40939907 [T/G] NM_032387 WNK4 EXON Missense_C618F exm1325585 17 40940169 [T/C] NM_032387 WNK4 EXON Missense_R629C exm1325586 17 40940172 [T/C] NM_032387 WNK4 EXON Missense_S630P exm1887478 17 40940409 [A/G] NM_032387 WNK4 EXON Missense_R675Q exm1325594 17 40940414 [T/C] NM_032387 WNK4 EXON Missense_R677W exm1325603 17 40945659 [A/G] NM_032387 WNK4 EXON Missense_R736Q exm1325605 17 40945676 [G/C] NM_032387 WNK4 EXON Missense_Q742E exm1325606 17 40945680 [A/G] NM_032387 WNK4 EXON Missense_R743Q exm1325612 17 40946808 [A/C] NM_032387 WNK4 EXON Missense_T790N exm1325614 17 40946913 [T/C] NM_032387 WNK4 EXON Missense_P825L exm1325621 17 40947110 [A/G] NM_032387 WNK4 EXON Missense_T891A exm1325622 17 40947111 [T/C] NM_032387 WNK4 EXON Missense_T891M exm1325629 17 40947320 [T/C] NM_032387 WNK4 EXON Missense_P961S exm1325630 17 40947332 [T/C] NM_032387 WNK4 EXON Missense_L965F exm1325632 17 40947344 [A/G] NM_032387 WNK4 EXON Missense_V969I exm1325636 17 40947652 [C/G] NM_032387 WNK4 EXON Missense_P1011R exm1325638 17 40947694 [T/C] NM_032387 WNK4 EXON Missense_P1025L exm1325641 17 40947802 [G/C] NM_032387 WNK4 EXON Missense_G1061A exm1325647 17 40947871 [T/C] NM_032387 WNK4 EXON Missense_V1084A exm1325665 17 40948304 [A/C] NM_032387 WNK4 EXON Missense_R1199S exm1325668 17 40948319 [T/C] NM_032387 WNK4 EXON Missense_R1204C exm1325680 17 40950135 [T/C] NM_001040431 COA3 EXON Missense_E89K exm1325681 17 40950185 [T/C] NM_001040431 COA3 EXON Missense_Y72C exm1325683 17 40950498 [A/C] NM_001040431 COA3 EXON Missense_V68L exm1887513 17 40950687 [T/C] NM_001040431 COA3 EXON Missense_G5R exm1325694 17 40951092 [A/G] NM_173478 CNTD1 EXON Missense_G3R exm1325697 17 40951150 [T/C] NM_173478 CNTD1 EXON Missense_T22I exm1325706 17 40956338 [A/C] NM_173478 CNTD1 EXON Missense_Q114P exm1325709 17 40957849 [A/G] NM_173478 CNTD1 EXON Missense_R176Q exm1325711 17 40957885 [T/C] NM_173478 CNTD1 EXON Missense_T188M exm1325718 17 40958776 [A/C] NM_173478 CNTD1 EXON Missense_P222H exm1887524 17 40958806 [T/C] NM_173478 CNTD1 EXON Missense_I232T exm1325722 17 40958830 [T/C] NM_173478 CNTD1 EXON Missense_L240P exm1887527 17 40959851 [T/C] NM_173478 CNTD1 EXON Missense_A264V exm1325725 17 40961468 [T/G] NM_173478 CNTD1 EXON Missense_G303V exm1325727 17 40961512 [A/G] NM_173478 CNTD1 EXON Missense_A318T exm1325751 17 40970264 [T/C] NM_003766 BECN1 EXON Missense_E220K exm1325756 17 40970432 [A/G] NM_003766 BECN1 EXON Missense_R164C exm1325763 17 40971605 [T/C] NM_003766 BECN1 EXON Missense_R74H exm1325769 17 40975828 [T/A] NM_003766 BECN1 EXON Missense_Q23L exm1887593 17 40996645 [T/C] NM_001158,NM_009590 AOC2,AOC2 EXON Missense_M1T,Missense_M1T exm1325795 17 40996656 [A/G] NM_001158,NM_009590 AOC2,AOC2 EXON Missense_I5V,Missense_I5V exm1325799 17 40996708 [A/G] NM_001158,NM_009590 AOC2,AOC2 EXON Missense_Y22C,Missense_Y22C exm1325800 17 40996728 [A/G] NM_001158,NM_009590 AOC2,AOC2 EXON Missense_G29S,Missense_G29S exm1325802 17 40996783 [A/G] NM_001158,NM_009590 AOC2,AOC2 EXON Nonsense_W47X,Nonsense_W47X exm1325804 17 40996790 [A/C] NM_001158,NM_009590 AOC2,AOC2 EXON Missense_H49Q,Missense_H49Q exm1325815 17 40996887 [A/G] NM_001158,NM_009590 AOC2,AOC2 EXON Missense_A82T,Missense_A82T exm1325821 17 40996995 [T/C] NM_001158,NM_009590 AOC2,AOC2 EXON Missense_R118W,Missense_R118W exm1325824 17 40997052 [G/C] NM_001158,NM_009590 AOC2,AOC2 EXON Missense_L137V,Missense_L137V exm1325828 17 40997065 [T/C] NM_001158,NM_009590 AOC2,AOC2 EXON Missense_P141L,Missense_P141L exm1325838 17 40997192 [T/G] NM_001158,NM_009590 AOC2,AOC2 EXON Missense_E183D,Missense_E183D exm1325840 17 40997235 [A/G] NM_001158,NM_009590 AOC2,AOC2 EXON Missense_N198D,Missense_N198D exm1325858 17 40997409 [T/C] NM_001158,NM_009590 AOC2,AOC2 EXON Nonsense_Q256X,Nonsense_Q256X exm1325863 17 40997461 [A/G] NM_001158,NM_009590 AOC2,AOC2 EXON Missense_R273Q,Missense_R273Q exm2253014 17 40997471 [A/G] NM_001158,NM_009590 AOC2,AOC2 EXON Synonymous_K276K,Synonymous_K276K exm1325865 17 40997478 [T/C] NM_001158,NM_009590 AOC2,AOC2 EXON Missense_R279W,Missense_R279W exm1325866 17 40997534 [T/G] NM_001158,NM_009590 AOC2,AOC2 EXON Missense_R297S,Missense_R297S exm1325876 17 40997707 [A/G] NM_001158,NM_009590 AOC2,AOC2 EXON Missense_Y355C,Missense_Y355C exm1325885 17 40997782 [A/G] NM_001158,NM_009590 AOC2,AOC2 EXON Missense_D380G,Missense_D380G exm1325889 17 40997824 [A/G] NM_001158,NM_009590 AOC2,AOC2 EXON Missense_R394Q,Missense_R394Q exm2226441 17 40997924 [T/G] NM_001158,NM_009590 AOC2,AOC2 EXON Missense_E427D,Missense_E427D exm1325923 17 41001244 [A/G] NM_001158,NM_009590 AOC2,AOC2 EXON Missense_S577N,Missense_S577N exm1325933 17 41001325 [A/C] NM_001158,NM_009590 AOC2,AOC2 EXON Silent,Missense_H604P exm1325938 17 41001713 [A/C] NM_001158,NM_009590 AOC2,AOC2 EXON Missense_A630D,Missense_A657D exm1325945 17 41002147 [A/G] NM_001158,NM_009590 AOC2,AOC2 EXON Missense_E658K,Missense_E685K exm1325946 17 41002169 [T/C] NM_001158,NM_009590 AOC2,AOC2 EXON Missense_T665I,Missense_T692I exm1325949 17 41002218 [T/G] NM_001158,NM_009590 AOC2,AOC2 EXON Missense_D681E,Missense_D708E exm1325951 17 41002279 [T/C] NM_001158,NM_009590 AOC2,AOC2 EXON Missense_L702F,Missense_L729F exm1325953 17 41002312 [A/G] NM_001158,NM_009590 AOC2,AOC2 EXON Missense_D713N,Missense_D740N exm1325954 17 41002331 [T/C] NM_001158,NM_009590 AOC2,AOC2 EXON Missense_P719L,Missense_P746L exm2253015 17 41003381 [T/C] NM_003734 AOC3 EXON Synonymous_L7L exm1325962 17 41003400 [A/G] NM_003734 AOC3 EXON Missense_V14I exm1325981 17 41003871 [G/C] NM_003734 AOC3 EXON Missense_V171L exm1326008 17 41004414 [A/G] NM_003734 AOC3 EXON Missense_V352I exm1326009 17 41004417 [C/G] NM_003734 AOC3 EXON Missense_R353G exm1326013 17 41004472 [T/C] NM_003734 AOC3 EXON Missense_I371T exm1326020 17 41004559 [A/G] NM_003734 AOC3 EXON Missense_R400H exm1326022 17 41004591 [A/G] NM_003734 AOC3 EXON Missense_V411M exm1326028 17 41004637 [A/G] NM_003734 AOC3 EXON Missense_R426H exm1326036 17 41004763 [A/T] NM_003734 AOC3 EXON Nonsense_L468X exm1326037 17 41004777 [T/A] NM_003734 AOC3 EXON Missense_Y473N exm1326046 17 41006561 [A/G] NM_003734 AOC3 EXON Missense_R566Q exm1326053 17 41006608 [A/G] NM_003734 AOC3 EXON Missense_A582T exm1326061 17 41006729 [T/C] NM_003734 AOC3 EXON Missense_A622V exm1326072 17 41008306 [A/G] NM_003734 AOC3 EXON Nonsense_W677X exm1326114 17 41055964 [T/C] NM_000151,NM_001270397 G6PC,G6PC EXON Missense_R83C,Missense_R83C exm2260657 17 41056245 [A/G] NM_000151,NM_001270397 G6PC,G6PC Silent,Silent exm2226444 17 41059622 [G/C] NM_000151,NM_001270397 G6PC,G6PC EXON Missense_K141N,Missense_D116H exm2226445 17 41059645 [A/G] NM_000151,NM_001270397 G6PC,G6PC EXON Missense_R149Q,Synonymous_S123S exm1326124 17 41062979 [T/G] NM_000151,NM_001270397 G6PC,G6PC EXON Missense_A204S,Silent exm1326128 17 41063063 [A/G] NM_000151,NM_001270397 G6PC,G6PC EXON Missense_V232I,Silent exm1326130 17 41063162 [G/C] NM_000151,NM_001270397 G6PC,G6PC EXON Missense_L265V,Silent exm1326140 17 41063312 [G/C] NM_000151,NM_001270397 G6PC,G6PC EXON Missense_P315A,Silent exm1326144 17 41063361 [T/C] NM_000151,NM_001270397 G6PC,G6PC EXON Missense_A331V,Silent exm1326148 17 41063408 [T/C] NM_000151,NM_001270397 G6PC,G6PC EXON Nonsense_Q347X,Silent exm1326165 17 41103839 [A/G] NM_025267,NM_001261434,NM_001136042 PTGES3L-AARSD1,AARSD1,PTGES3L-AARSD1 EXON Missense_S474P,Missense_S361P,Missense_S535P exm1326172 17 41105741 [G/C] NM_025267,NM_001261434,NM_001136042 PTGES3L-AARSD1,AARSD1,PTGES3L-AARSD1 EXON Missense_E449D,Missense_E336D,Missense_E510D exm1326176 17 41106905 [A/G] NM_025267,NM_001261434,NM_001136042 PTGES3L-AARSD1,AARSD1,PTGES3L-AARSD1 EXON Missense_V427A,Missense_V314A,Missense_V488A exm1326178 17 41106931 [A/C] NM_025267,NM_001261434,NM_001136042 PTGES3L-AARSD1,AARSD1,PTGES3L-AARSD1 EXON Missense_R418S,Missense_R305S,Missense_R479S exm1326181 17 41106960 [C/G] NM_025267,NM_001261434,NM_001136042 PTGES3L-AARSD1,AARSD1,PTGES3L-AARSD1 EXON Missense_L409V,Missense_L296V,Missense_L470V exm1326183 17 41106983 [T/C] NM_025267,NM_001261434,NM_001136042 PTGES3L-AARSD1,AARSD1,PTGES3L-AARSD1 EXON Missense_N401S,Missense_N288S,Missense_N462S exm1326186 17 41107241 [T/C] NM_025267,NM_001261434,NM_001136042 PTGES3L-AARSD1,AARSD1,PTGES3L-AARSD1 EXON Synonymous_K378K,Synonymous_K265K,Synonymous_K439K exm1326196 17 41108438 [T/C] NM_025267,NM_001261434,NM_001136042 PTGES3L-AARSD1,AARSD1,PTGES3L-AARSD1 EXON Missense_D290N,Missense_D177N,Missense_D351N exm1326198 17 41108483 [T/C] NM_025267,NM_001261434,NM_001136042 PTGES3L-AARSD1,AARSD1,PTGES3L-AARSD1 EXON Missense_I275V,Missense_I162V,Missense_I336V exm1326216 17 41113319 [T/C] NM_025267,NM_001261434,NM_001136042 PTGES3L-AARSD1,AARSD1,PTGES3L-AARSD1 EXON Missense_R187H,Missense_R74H,Missense_R248H exm1887698 17 41113359 [A/G] NM_025267,NM_001261434,NM_001136042 PTGES3L-AARSD1,AARSD1,PTGES3L-AARSD1 EXON Missense_R174C,Missense_R61C,Missense_R235C exm1326221 17 41116127 [T/C] NM_025267,NM_001261434,NM_001136042 PTGES3L-AARSD1,AARSD1,PTGES3L-AARSD1 EXON Missense_G169E,Missense_G56E,Missense_G230E exm1326222 17 41116170 [A/G] NM_025267,NM_001261434,NM_001136042 PTGES3L-AARSD1,AARSD1,PTGES3L-AARSD1 EXON Nonsense_Q155X,Nonsense_Q42X,Nonsense_Q216X exm1326231 17 41121178 [T/G] NM_025267,NM_001136042,NM_001261430,NM_001142654,NM_001142653 PTGES3L-AARSD1,PTGES3L-AARSD1,PTGES3L,PTGES3L,PTGES3L EXON Silent,Silent,Missense_A196E,Missense_A158E,Missense_A163E exm1326242 17 41131212 [A/G] NM_025267,NM_001136042,NM_001261430,NM_001142654,NM_001142653 PTGES3L-AARSD1,PTGES3L-AARSD1,PTGES3L,PTGES3L,PTGES3L EXON Missense_P70L,Missense_P131L,Missense_P131L,Missense_P93L,Silent exm1326251 17 41131448 [T/C] NM_025267,NM_001136042,NM_001261430,NM_001142654,NM_001142653 PTGES3L-AARSD1,PTGES3L-AARSD1,PTGES3L,PTGES3L,PTGES3L EXON Missense_D28N,Missense_D89N,Missense_D89N,Missense_D51N,Missense_D89N exm1326253 17 41131613 [T/C] NM_025267,NM_001136042,NM_001261430,NM_001142654,NM_001142653 PTGES3L-AARSD1,PTGES3L-AARSD1,PTGES3L,PTGES3L,PTGES3L EXON Missense_S8G,Missense_S69G,Missense_S69G,Silent,Missense_S69G exm1326254 17 41131622 [T/C] NM_025267,NM_001136042,NM_001261430,NM_001142654,NM_001142653 PTGES3L-AARSD1,PTGES3L-AARSD1,PTGES3L,PTGES3L,PTGES3L EXON Missense_V5I,Missense_V66I,Missense_V66I,Silent,Missense_V66I exm1326255 17 41131626 [A/C] NM_025267,NM_001136042,NM_001261430,NM_001142654,NM_001142653 PTGES3L-AARSD1,PTGES3L-AARSD1,PTGES3L,PTGES3L,PTGES3L EXON Missense_F3L,Missense_F64L,Missense_F64L,Silent,Missense_F64L exm1326256 17 41131645 [A/C] NM_025267,NM_001136042,NM_001261430,NM_001142654,NM_001142653 PTGES3L-AARSD1,PTGES3L-AARSD1,PTGES3L,PTGES3L,PTGES3L EXON Silent,Missense_R58M,Missense_R58M,Silent,Missense_R58M exm1326261 17 41132622 [T/C] NM_173079 RUNDC1 EXON Missense_P10L exm1326264 17 41132795 [A/G] NM_173079 RUNDC1 EXON Missense_A68T exm1326270 17 41139295 [A/G] NM_173079 RUNDC1 EXON Missense_R174H exm1326274 17 41139397 [T/C] NM_173079 RUNDC1 EXON Missense_S208L exm1326282 17 41141442 [T/C] NM_173079 RUNDC1 EXON Missense_R248C exm1326284 17 41142339 [A/G] NM_173079 RUNDC1 EXON Missense_V288M exm1326287 17 41142433 [T/C] NM_173079 RUNDC1 EXON Missense_T319M exm1326295 17 41143047 [G/C] NM_173079 RUNDC1 EXON Missense_E386Q exm1326305 17 41143333 [A/G] NM_173079 RUNDC1 EXON Missense_H481R exm1326310 17 41143429 [A/G] NM_173079 RUNDC1 EXON Missense_K513R exm2226448 17 41158985 [T/C] NM_005533 IFI35 EXON Synonymous_A7A exm1326346 17 41164220 [G/C] NM_005533 IFI35 EXON Missense_Q16E exm1326347 17 41164226 [A/G] NM_005533 IFI35 EXON Missense_R18G exm2253017 17 41164279 [T/C] NM_005533 IFI35 EXON Synonymous_D35D exm1326353 17 41164279 [T/C] NM_005533 IFI35 EXON Synonymous_D35D exm1326361 17 41165176 [T/C] NM_005533 IFI35 EXON Missense_A78V exm1326367 17 41165390 [C/G] NM_005533 IFI35 EXON Missense_Q125H exm1326369 17 41165493 [A/G] NM_005533 IFI35 EXON Missense_M128V exm1326375 17 41165587 [T/C] NM_005533 IFI35 EXON Missense_I159T exm1326377 17 41165610 [A/G] NM_005533 IFI35 EXON Missense_G167R exm1326381 17 41165632 [A/G] NM_005533 IFI35 EXON Missense_R174Q exm2274944 17 41165657 [A/G] NM_005533 IFI35 EXON Missense_M182I exm1326387 17 41165802 [A/G] NM_005533 IFI35 EXON Missense_R193H exm1326388 17 41165868 [T/C] NM_005533 IFI35 EXON Missense_P215L exm1326391 17 41166161 [T/C] NM_005533 IFI35 EXON Missense_L238F exm1326402 17 41166275 [A/G] NM_005533 IFI35 EXON Missense_G276R exm1326404 17 41166290 [C/G] NM_005533 IFI35 EXON Missense_A281P exm1326411 17 41168419 [T/C] NM_006373 VAT1 EXON Missense_V335M exm1326421 17 41169867 [T/C] NM_006373 VAT1 EXON Missense_V283I exm1326427 17 41170191 [A/G] NM_006373 VAT1 EXON Missense_R210C exm1326430 17 41170220 [T/C] NM_006373 VAT1 EXON Missense_G200D exm1326431 17 41170221 [A/C] NM_006373 VAT1 EXON Missense_G200C exm1887781 17 41170720 [T/C] NM_006373 VAT1 EXON Missense_T162A exm1326444 17 41174053 [T/C] NM_006373 VAT1 EXON Missense_R96K exm1326463 17 41179267 [C/G] NM_005440 RND2 EXON Missense_F86L exm1326464 17 41180166 [T/C] NM_005440 RND2 EXON Missense_L130P exm1326471 17 41180534 [A/T] NM_005440 RND2 EXON Missense_F174Y exm1326479 17 41180641 [T/C] NM_005440 RND2 EXON Missense_R210W exm1326503 17 41215385 [T/C] NM_007297,NM_007298,NM_007294,NM_007300,NM_007299,NR_027676 BRCA1,BRCA1,BRCA1,BRCA1,BRCA1,BRCA1 EXON Missense_T1673A,Missense_T616A,Missense_T1720A,Missense_T1741A,Missense_T616A,Silent exm1326507 17 41215948 [A/G] NM_007297,NM_007298,NM_007294,NM_007300,NM_007299,NR_027676 BRCA1,BRCA1,BRCA1,BRCA1,BRCA1,BRCA1 EXON Missense_R1652W,Missense_R595W,Missense_R1699W,Missense_R1720W,Missense_R595W,Silent exm1326514 17 41222975 [T/C] NM_007297,NM_007298,NM_007294,NM_007300,NM_007299,NR_027676 BRCA1,BRCA1,BRCA1,BRCA1,BRCA1,BRCA1 EXON Missense_M1605I,Missense_M548I,Missense_M1652I,Missense_M1673I,Missense_M548I,Silent exm1326516 17 41223048 [A/G] NM_007297,NM_007298,NM_007294,NM_007300,NM_007299,NR_027676 BRCA1,BRCA1,BRCA1,BRCA1,BRCA1,BRCA1 EXON Missense_M1581T,Missense_M524T,Missense_M1628T,Missense_M1649T,Missense_M524T,Silent exm1326520 17 41223091 [A/G] NM_007297,NM_007298,NM_007294,NM_007300,NM_007299,NR_027676 BRCA1,BRCA1,BRCA1,BRCA1,BRCA1,BRCA1 EXON Missense_P1567S,Missense_P510S,Missense_P1614S,Missense_P1635S,Missense_P510S,Silent exm1326521 17 41223094 [T/C] NM_007297,NM_007298,NM_007294,NM_007300,NM_007299,NR_027676 BRCA1,BRCA1,BRCA1,BRCA1,BRCA1,BRCA1 EXON Missense_S1566G,Missense_S509G,Missense_S1613G,Missense_S1634G,Missense_S509G,Silent exm1326524 17 41223196 [G/C] NM_007297,NM_007298,NM_007294,NM_007300,NM_007299,NR_027676 BRCA1,BRCA1,BRCA1,BRCA1,BRCA1,BRCA1 EXON Missense_P1532A,Missense_P475A,Missense_P1579A,Missense_P1600A,Missense_P475A,Silent exm1326526 17 41223240 [A/G] NM_007297,NM_007298,NM_007294,NM_007300,NM_007299,NR_027676 BRCA1,BRCA1,BRCA1,BRCA1,BRCA1,BRCA1 EXON Missense_L1517P,Missense_L460P,Missense_L1564P,Missense_L1585P,Missense_L460P,Silent exm1326532 17 41226423 [T/C] NM_007297,NM_007298,NM_007294,NM_007300,NM_007299,NR_027676 BRCA1,BRCA1,BRCA1,BRCA1,BRCA1,BRCA1 EXON Missense_V1487M,Missense_V430M,Missense_V1534M,Missense_V1555M,Missense_V430M,Silent exm1326534 17 41226488 [A/C] NM_007297,NM_007298,NM_007294,NM_007300,NM_007299,NR_027676 BRCA1,BRCA1,BRCA1,BRCA1,BRCA1,BRCA1 EXON Missense_S1465I,Missense_S408I,Missense_S1512I,Missense_S1533I,Missense_S408I,Silent exm1326551 17 41243494 [T/C] NM_007297,NM_007298,NM_007294,NM_007300,NM_007299,NR_027676 BRCA1,BRCA1,BRCA1,BRCA1,BRCA1,BRCA1 EXON Missense_E1305K,Silent,Missense_E1352K,Missense_E1352K,Silent,Silent exm1326554 17 41243509 [T/C] NM_007297,NM_007298,NM_007294,NM_007300,NM_007299,NR_027676 BRCA1,BRCA1,BRCA1,BRCA1,BRCA1,BRCA1 EXON Missense_R1300G,Silent,Missense_R1347G,Missense_R1347G,Silent,Silent exm1326560 17 41243670 [A/G] NM_007297,NM_007298,NM_007294,NM_007300,NM_007299,NR_027676 BRCA1,BRCA1,BRCA1,BRCA1,BRCA1,BRCA1 EXON Missense_A1246V,Silent,Missense_A1293V,Missense_A1293V,Silent,Silent exm1326567 17 41243800 [T/C] NM_007297,NM_007298,NM_007294,NM_007300,NM_007299,NR_027676 BRCA1,BRCA1,BRCA1,BRCA1,BRCA1,BRCA1 EXON Missense_E1203K,Silent,Missense_E1250K,Missense_E1250K,Silent,Silent exm1326571 17 41243840 [A/C] NM_007297,NM_007298,NM_007294,NM_007300,NM_007299,NR_027676 BRCA1,BRCA1,BRCA1,BRCA1,BRCA1,BRCA1 EXON Missense_N1189K,Silent,Missense_N1236K,Missense_N1236K,Silent,Silent exm1326581 17 41243940 [T/C] NM_007297,NM_007298,NM_007294,NM_007300,NM_007299,NR_027676 BRCA1,BRCA1,BRCA1,BRCA1,BRCA1,BRCA1 EXON Missense_R1156Q,Silent,Missense_R1203Q,Missense_R1203Q,Silent,Silent exm1326586 17 41244000 [T/C] NM_007297,NM_007298,NM_007294,NM_007300,NM_007299,NR_027676 BRCA1,BRCA1,BRCA1,BRCA1,BRCA1,BRCA1 EXON Missense_K1136R,Silent,Missense_K1183R,Missense_K1183R,Silent,Silent exm1887833 17 41244100 [A/G] NM_007297,NM_007298,NM_007294,NM_007300,NM_007299,NR_027676 BRCA1,BRCA1,BRCA1,BRCA1,BRCA1,BRCA1 EXON Missense_P1103S,Silent,Missense_P1150S,Missense_P1150S,Silent,Silent exm1326594 17 41244246 [T/C] NM_007297,NM_007298,NM_007294,NM_007300,NM_007299,NR_027676 BRCA1,BRCA1,BRCA1,BRCA1,BRCA1,BRCA1 EXON Missense_S1054N,Silent,Missense_S1101N,Missense_S1101N,Silent,Silent exm1326595 17 41244252 [A/G] NM_007297,NM_007298,NM_007294,NM_007300,NM_007299,NR_027676 BRCA1,BRCA1,BRCA1,BRCA1,BRCA1,BRCA1 EXON Missense_P1052L,Silent,Missense_P1099L,Missense_P1099L,Silent,Silent exm1326600 17 41244429 [T/C] NM_007297,NM_007298,NM_007294,NM_007300,NM_007299,NR_027676 BRCA1,BRCA1,BRCA1,BRCA1,BRCA1,BRCA1 EXON Missense_S993N,Silent,Missense_S1040N,Missense_S1040N,Silent,Silent exm1326601 17 41244435 [T/C] NM_007297,NM_007298,NM_007294,NM_007300,NM_007299,NR_027676 BRCA1,BRCA1,BRCA1,BRCA1,BRCA1,BRCA1 EXON Missense_E991G,Silent,Missense_E1038G,Missense_E1038G,Silent,Silent exm1887836 17 41244465 [T/C] NM_007297,NM_007298,NM_007294,NM_007300,NM_007299,NR_027676 BRCA1,BRCA1,BRCA1,BRCA1,BRCA1,BRCA1 EXON Missense_R981H,Silent,Missense_R1028H,Missense_R1028H,Silent,Silent exm1326602 17 41244524 [T/C] NM_007297,NM_007298,NM_007294,NM_007300,NM_007299,NR_027676 BRCA1,BRCA1,BRCA1,BRCA1,BRCA1,BRCA1 EXON Missense_M961I,Silent,Missense_M1008I,Missense_M1008I,Silent,Silent exm1326603 17 41244526 [T/C] NM_007297,NM_007298,NM_007294,NM_007300,NM_007299,NR_027676 BRCA1,BRCA1,BRCA1,BRCA1,BRCA1,BRCA1 EXON Missense_M961V,Silent,Missense_M1008V,Missense_M1008V,Silent,Silent exm1326610 17 41244775 [T/G] NM_007297,NM_007298,NM_007294,NM_007300,NM_007299,NR_027676 BRCA1,BRCA1,BRCA1,BRCA1,BRCA1,BRCA1 EXON Missense_I878L,Silent,Missense_I925L,Missense_I925L,Silent,Silent exm2253018 17 41244815 [T/C] NM_007297,NM_007298,NM_007294,NM_007300,NM_007299,NR_027676 BRCA1,BRCA1,BRCA1,BRCA1,BRCA1,BRCA1 EXON Synonymous_G864G,Silent,Synonymous_G911G,Synonymous_G911G,Silent,Silent exm1326613 17 41244936 [A/G] NM_007297,NM_007298,NM_007294,NM_007300,NM_007299,NR_027676 BRCA1,BRCA1,BRCA1,BRCA1,BRCA1,BRCA1 EXON Missense_P824L,Silent,Missense_P871L,Missense_P871L,Silent,Silent exm1326617 17 41245027 [A/G] NM_007297,NM_007298,NM_007294,NM_007300,NM_007299,NR_027676 BRCA1,BRCA1,BRCA1,BRCA1,BRCA1,BRCA1 EXON Missense_R794W,Silent,Missense_R841W,Missense_R841W,Silent,Silent exm1326619 17 41245090 [T/C] NM_007297,NM_007298,NM_007294,NM_007300,NM_007299,NR_027676 BRCA1,BRCA1,BRCA1,BRCA1,BRCA1,BRCA1 EXON Missense_K773E,Silent,Missense_K820E,Missense_K820E,Silent,Silent exm1326620 17 41245120 [T/A] NM_007297,NM_007298,NM_007294,NM_007300,NM_007299,NR_027676 BRCA1,BRCA1,BRCA1,BRCA1,BRCA1,BRCA1 EXON Missense_N763Y,Silent,Missense_N810Y,Missense_N810Y,Silent,Silent exm1326621 17 41245136 [G/C] NM_007297,NM_007298,NM_007294,NM_007300,NM_007299,NR_027676 BRCA1,BRCA1,BRCA1,BRCA1,BRCA1,BRCA1 EXON Missense_Q757H,Silent,Missense_Q804H,Missense_Q804H,Silent,Silent exm1326623 17 41245180 [T/C] NM_007297,NM_007298,NM_007294,NM_007300,NM_007299,NR_027676 BRCA1,BRCA1,BRCA1,BRCA1,BRCA1,BRCA1 EXON Missense_T743A,Silent,Missense_T790A,Missense_T790A,Silent,Silent exm1326626 17 41245233 [A/G] NM_007297,NM_007298,NM_007294,NM_007300,NM_007299,NR_027676 BRCA1,BRCA1,BRCA1,BRCA1,BRCA1,BRCA1 EXON Missense_V725A,Silent,Missense_V772A,Missense_V772A,Silent,Silent exm1326631 17 41245381 [T/C] NM_007297,NM_007298,NM_007294,NM_007300,NM_007299,NR_027676 BRCA1,BRCA1,BRCA1,BRCA1,BRCA1,BRCA1 EXON Missense_N676D,Silent,Missense_N723D,Missense_N723D,Silent,Silent exm1326638 17 41245471 [T/C] NM_007297,NM_007298,NM_007294,NM_007300,NM_007299,NR_027676 BRCA1,BRCA1,BRCA1,BRCA1,BRCA1,BRCA1 EXON Missense_D646N,Silent,Missense_D693N,Missense_D693N,Silent,Silent exm1326650 17 41245861 [A/G] NM_007297,NM_007298,NM_007294,NM_007300,NM_007299,NR_027676 BRCA1,BRCA1,BRCA1,BRCA1,BRCA1,BRCA1 EXON Nonsense_Q516X,Silent,Nonsense_Q563X,Nonsense_Q563X,Silent,Silent exm1326652 17 41245900 [T/G] NM_007297,NM_007298,NM_007294,NM_007300,NM_007299,NR_027676 BRCA1,BRCA1,BRCA1,BRCA1,BRCA1,BRCA1 EXON Missense_N503H,Silent,Missense_N550H,Missense_N550H,Silent,Silent exm1326661 17 41246061 [T/C] NM_007297,NM_007298,NM_007294,NM_007300,NM_007299,NR_027676 BRCA1,BRCA1,BRCA1,BRCA1,BRCA1,BRCA1 EXON Missense_R449H,Silent,Missense_R496H,Missense_R496H,Silent,Silent exm1326662 17 41246062 [A/G] NM_007297,NM_007298,NM_007294,NM_007300,NM_007299,NR_027676 BRCA1,BRCA1,BRCA1,BRCA1,BRCA1,BRCA1 EXON Missense_R449C,Silent,Missense_R496C,Missense_R496C,Silent,Silent exm1326663 17 41246092 [A/G] NM_007297,NM_007298,NM_007294,NM_007300,NM_007299,NR_027676 BRCA1,BRCA1,BRCA1,BRCA1,BRCA1,BRCA1 EXON Missense_F439L,Silent,Missense_F486L,Missense_F486L,Silent,Silent exm1326666 17 41246121 [T/C] NM_007297,NM_007298,NM_007294,NM_007300,NM_007299,NR_027676 BRCA1,BRCA1,BRCA1,BRCA1,BRCA1,BRCA1 EXON Missense_H429R,Silent,Missense_H476R,Missense_H476R,Silent,Silent exm1326676 17 41246411 [A/C] NM_007297,NM_007298,NM_007294,NM_007300,NM_007299,NR_027676 BRCA1,BRCA1,BRCA1,BRCA1,BRCA1,BRCA1 EXON Missense_I332M,Silent,Missense_I379M,Missense_I379M,Silent,Silent exm1326680 17 41246481 [T/C] NM_007297,NM_007298,NM_007294,NM_007300,NM_007299,NR_027676 BRCA1,BRCA1,BRCA1,BRCA1,BRCA1,BRCA1 EXON Missense_Q309R,Silent,Missense_Q356R,Missense_Q356R,Silent,Silent exm1326686 17 41246602 [T/C] NM_007297,NM_007298,NM_007294,NM_007300,NM_007299,NR_027676 BRCA1,BRCA1,BRCA1,BRCA1,BRCA1,BRCA1 EXON Missense_S269G,Silent,Missense_S316G,Missense_S316G,Silent,Silent exm2253019 17 41246741 [T/C] NM_007297,NM_007298,NM_007294,NM_007300,NM_007299,NR_027676 BRCA1,BRCA1,BRCA1,BRCA1,BRCA1,BRCA1 EXON Synonymous_L222L,Silent,Synonymous_L269L,Synonymous_L269L,Silent,Silent exm1326698 17 41246812 [A/C] NM_007297,NM_007298,NM_007294,NM_007300,NM_007299,NR_027676 BRCA1,BRCA1,BRCA1,BRCA1,BRCA1,BRCA1 EXON Missense_L199V,Missense_L246V,Missense_L246V,Missense_L246V,Missense_L246V,Silent exm1326701 17 41247941 [T/G] NM_007297,NM_007298,NM_007294,NM_007300,NM_007299,NR_027676 BRCA1,BRCA1,BRCA1,BRCA1,BRCA1,BRCA1 Silent,Silent,Silent,Silent,Silent,Silent exm1326706 17 41249283 [T/C] NM_007297,NM_007298,NM_007294,NM_007300,NM_007299,NR_027676 BRCA1,BRCA1,BRCA1,BRCA1,BRCA1,BRCA1 EXON Missense_V144I,Missense_V191I,Missense_V191I,Missense_V191I,Missense_V191I,Silent exm1326708 17 41249297 [T/G] NM_007297,NM_007298,NM_007294,NM_007300,NM_007299,NR_027676 BRCA1,BRCA1,BRCA1,BRCA1,BRCA1,BRCA1 EXON Missense_S139Y,Missense_S186Y,Missense_S186Y,Missense_S186Y,Missense_S186Y,Silent exm1326710 17 41251803 [T/C] NM_007297,NM_007298,NM_007294,NM_007300,NM_007299,NR_027676 BRCA1,BRCA1,BRCA1,BRCA1,BRCA1,BRCA1 EXON Missense_Y132C,Missense_Y179C,Missense_Y179C,Missense_Y179C,Missense_Y179C,Silent exm1326713 17 41251882 [T/G] NM_007297,NM_007298,NM_007294,NM_007300,NM_007299,NR_027676 BRCA1,BRCA1,BRCA1,BRCA1,BRCA1,BRCA1 EXON Missense_S106R,Missense_S153R,Missense_S153R,Missense_S153R,Missense_S153R,Silent exm1326730 17 41258551 [A/C] NM_007297,NM_007298,NM_007294,NM_007300,NM_007299,NR_027676 BRCA1,BRCA1,BRCA1,BRCA1,BRCA1,BRCA1 Silent,Silent,Silent,Silent,Silent,Silent exm1326759 17 41329986 [A/G] NM_031862,NM_031858,NM_005899 NBR1,NBR1,NBR1 EXON Missense_I46V,Missense_I46V,Missense_I46V exm1326770 17 41338394 [T/C] NM_031862,NM_031858,NM_005899 NBR1,NBR1,NBR1 EXON Missense_A112V,Missense_A112V,Missense_A112V exm1326771 17 41338439 [A/C] NM_031862,NM_031858,NM_005899 NBR1,NBR1,NBR1 EXON Missense_T127N,Missense_T127N,Missense_T127N exm1326778 17 41341668 [C/G] NM_031862,NM_031858,NM_005899 NBR1,NBR1,NBR1 EXON Missense_V182L,Missense_V182L,Missense_V182L exm1326781 17 41341735 [T/C] NM_031862,NM_031858,NM_005899 NBR1,NBR1,NBR1 EXON Missense_L204S,Missense_L204S,Missense_L204S exm1326783 17 41341800 [C/G] NM_031862,NM_031858,NM_005899 NBR1,NBR1,NBR1 EXON Missense_G226R,Missense_G226R,Missense_G226R exm1326790 17 41342727 [T/C] NM_031862,NM_031858,NM_005899 NBR1,NBR1,NBR1 EXON Missense_S266F,Missense_S266F,Missense_S266F exm1326794 17 41342766 [A/G] NM_031862,NM_031858,NM_005899 NBR1,NBR1,NBR1 EXON Missense_R279H,Missense_R279H,Missense_R279H exm1326798 17 41343442 [A/G] NM_031862,NM_031858,NM_005899 NBR1,NBR1,NBR1 EXON Missense_R306Q,Missense_R306Q,Missense_R306Q exm1326799 17 41343460 [A/G] NM_031862,NM_031858,NM_005899 NBR1,NBR1,NBR1 EXON Missense_R312H,Missense_R312H,Missense_R312H exm1326805 17 41345136 [A/G] NM_031862,NM_031858,NM_005899 NBR1,NBR1,NBR1 EXON Missense_V367I,Missense_V367I,Missense_V367I exm1326815 17 41347020 [C/G] NM_031862,NM_031858,NM_005899 NBR1,NBR1,NBR1 EXON Missense_Q572E,Missense_Q572E,Missense_Q572E exm1326817 17 41348964 [A/G] NM_031862,NM_031858,NM_005899 NBR1,NBR1,NBR1 EXON Missense_M623V,Missense_M623V,Missense_M623V exm1326826 17 41352278 [T/G] NM_031862,NM_031858,NM_005899 NBR1,NBR1,NBR1 EXON Missense_D707E,Missense_D707E,Missense_D707E exm1326844 17 41361926 [A/G] NM_031862,NM_031858,NM_005899 NBR1,NBR1,NBR1 EXON Missense_I912V,Missense_I912V,Missense_I912V exm1326846 17 41361960 [A/G] NM_031862,NM_031858,NM_005899 NBR1,NBR1,NBR1 EXON Missense_H923R,Missense_H923R,Missense_H923R exm1326848 17 41362022 [T/C] NM_031862,NM_031858,NM_005899 NBR1,NBR1,NBR1 EXON Missense_Y944H,Missense_Y944H,Missense_Y944H exm1326853 17 41365095 [A/G] NM_145041 TMEM106A EXON Missense_R12Q exm1326858 17 41365196 [A/G] NM_145041 TMEM106A EXON Missense_V46M exm1326859 17 41365199 [A/C] NM_145041 TMEM106A EXON Missense_P47T exm1326864 17 41367829 [A/G] NM_145041 TMEM106A EXON Missense_V100M exm1326869 17 41368487 [A/G] NM_145041 TMEM106A EXON Missense_N150S exm1887910 17 41368725 [A/G] NM_145041 TMEM106A EXON Missense_A194T exm1326882 17 41369729 [A/G] NM_145041 TMEM106A EXON Missense_H233R exm2268007 17 41445145 [A/G] exm1326900 17 41477576 [T/C] NM_001661 ARL4D EXON Missense_A159V exm1326913 17 41561460 [A/G] NM_004941 DHX8 EXON Missense_A19T exm1326925 17 41568557 [A/C] NM_004941 DHX8 EXON Missense_E111A exm1326927 17 41569597 [A/G] NM_004941 DHX8 EXON Missense_K147R exm1326934 17 41570071 [T/C] NM_004941 DHX8 EXON Missense_R176W exm1326936 17 41570078 [A/G] NM_004941 DHX8 EXON Missense_R178Q exm1326941 17 41570144 [A/G] NM_004941 DHX8 EXON Missense_R200Q exm2274945 17 41570293 [A/C] NM_004941 DHX8 EXON Synonymous_R250R exm1326948 17 41570311 [T/C] NM_004941 DHX8 EXON Missense_R256C exm1326959 17 41571108 [A/G] NM_004941 DHX8 EXON Missense_G356R exm1326965 17 41582013 [A/G] NM_004941 DHX8 EXON Synonymous_A516A exm1326969 17 41584374 [A/G] NM_004941 DHX8 EXON Missense_V578I exm1326980 17 41585021 [A/G] NM_004941 DHX8 EXON Missense_I692V exm1327008 17 41598230 [A/G] NM_004941 DHX8 EXON Missense_V1017I exm1327032 17 41606033 [A/G] NM_001261438,NM_001079675,NM_001986,NM_001261437,NM_001261439 ETV4,ETV4,ETV4,ETV4,ETV4 EXON Missense_R398C,Missense_R437C,Missense_R437C,Missense_R398C,Missense_R160C exm1327035 17 41606044 [A/G] NM_001261438,NM_001079675,NM_001986,NM_001261437,NM_001261439 ETV4,ETV4,ETV4,ETV4,ETV4 EXON Missense_P394L,Missense_P433L,Missense_P433L,Missense_P394L,Missense_P156L exm1327036 17 41606065 [A/G] NM_001261438,NM_001079675,NM_001986,NM_001261437,NM_001261439 ETV4,ETV4,ETV4,ETV4,ETV4 EXON Missense_A387V,Missense_A426V,Missense_A426V,Missense_A387V,Missense_A149V exm1327037 17 41606069 [T/C] NM_001261438,NM_001079675,NM_001986,NM_001261437,NM_001261439 ETV4,ETV4,ETV4,ETV4,ETV4 EXON Missense_E386K,Missense_E425K,Missense_E425K,Missense_E386K,Missense_E148K exm1327048 17 41606922 [T/C] NM_001261438,NM_001079675,NM_001986,NM_001261437,NM_001261439 ETV4,ETV4,ETV4,ETV4,ETV4 EXON Missense_I321V,Missense_I360V,Missense_I360V,Missense_I321V,Missense_I83V exm1887989 17 41607257 [A/C] NM_001261438,NM_001079675,NM_001986,NM_001261437,NM_001261439 ETV4,ETV4,ETV4,ETV4,ETV4 EXON Missense_F278C,Missense_F317C,Missense_F317C,Missense_F278C,Missense_F40C exm1327057 17 41607484 [G/C] NM_001261438,NM_001079675,NM_001986,NM_001261437,NM_001261439 ETV4,ETV4,ETV4,ETV4,ETV4 EXON Missense_G254R,Missense_G293R,Missense_G293R,Missense_G254R,Missense_G16R exm1327066 17 41610239 [A/G] NM_001261438,NM_001079675,NM_001986,NM_001261437 ETV4,ETV4,ETV4,ETV4 EXON Missense_L166P,Missense_L205P,Missense_L205P,Missense_L166P exm1327071 17 41610270 [A/T] NM_001261438,NM_001079675,NM_001986,NM_001261437 ETV4,ETV4,ETV4,ETV4 EXON Missense_F156I,Missense_F195I,Missense_F195I,Missense_F156I exm1327072 17 41610296 [T/C] NM_001261438,NM_001079675,NM_001986,NM_001261437 ETV4,ETV4,ETV4,ETV4 EXON Missense_Q147R,Missense_Q186R,Missense_Q186R,Missense_Q147R exm1327076 17 41610577 [T/G] NM_001261438,NM_001079675,NM_001986,NM_001261437 ETV4,ETV4,ETV4,ETV4 EXON Missense_H136N,Missense_H175N,Missense_H175N,Missense_H136N exm1327084 17 41611269 [A/G] NM_001261438,NM_001079675,NM_001986,NM_001261437 ETV4,ETV4,ETV4,ETV4 EXON Missense_P75L,Missense_P114L,Missense_P114L,Missense_P75L exm1327093 17 41622705 [A/C] NM_001261438,NM_001079675,NM_001986,NM_001261437 ETV4,ETV4,ETV4,ETV4 EXON Silent,Missense_A31S,Missense_A31S,Silent exm1327099 17 41622970 [A/T] NM_001261438,NM_001079675,NM_001986,NM_001261437 ETV4,ETV4,ETV4,ETV4 EXON Silent,Nonsense_K6X,Nonsense_K6X,Silent exm2273552 17 41719241 [A/G] NM_001040002,NM_013999,NM_004527 MEOX1,MEOX1,MEOX1 EXON Silent,Silent,Silent exm1327103 17 41719330 [T/C] NM_001040002,NM_013999,NM_004527 MEOX1,MEOX1,MEOX1 EXON Missense_N123S,Synonymous_Q180Q,Missense_N238S exm1327106 17 41719353 [T/C] NM_001040002,NM_013999,NM_004527 MEOX1,MEOX1,MEOX1 EXON Synonymous_K115K,Missense_G173R,Synonymous_K230K exm1327117 17 41720920 [T/C] NM_001040002,NM_013999,NM_004527 MEOX1,MEOX1,MEOX1 EXON Missense_H78R,Silent,Missense_H193R exm1327120 17 41720971 [A/G] NM_001040002,NM_013999,NM_004527 MEOX1,MEOX1,MEOX1 EXON Missense_T61M,Silent,Missense_T176M exm1327137 17 41738595 [T/C] NM_001040002,NM_013999,NM_004527 MEOX1,MEOX1,MEOX1 EXON Silent,Missense_R103H,Missense_R103H exm1327145 17 41738740 [T/C] NM_001040002,NM_013999,NM_004527 MEOX1,MEOX1,MEOX1 EXON Silent,Missense_A55T,Missense_A55T exm1327156 17 41738892 [A/G] NM_001040002,NM_013999,NM_004527 MEOX1,MEOX1,MEOX1 EXON Silent,Missense_A4V,Missense_A4V exm-rs1513670 17 41807331 [T/C] exm1327180 17 41835995 [T/C] NM_025237 SOST EXON Missense_E39K exm1327185 17 41836082 [T/C] NM_025237 SOST EXON Missense_V10I exm1327201 17 41847171 [T/C] NM_004090 DUSP3 EXON Missense_V122I exm1327220 17 41856238 [T/C] NM_004090 DUSP3 EXON Missense_G19S exm-rs8077889 17 41878166 [A/C] exm1327233 17 41879074 [T/C] NM_001932,NR_003562 MPP3,MPP3 EXON Missense_R585G,Silent exm1327240 17 41886350 [G/C] NM_001932,NR_003562 MPP3,MPP3 EXON Missense_A519P,Silent exm1327241 17 41886367 [A/G] NM_001932,NR_003562 MPP3,MPP3 EXON Missense_T513M,Silent exm1888039 17 41888186 [T/C] NM_001932,NR_003562 MPP3,MPP3 EXON Missense_V483M,Silent exm1327245 17 41888549 [T/C] NM_001932,NR_003562 MPP3,MPP3 EXON Missense_H427R,Silent exm1327248 17 41888559 [A/G] NM_001932,NR_003562 MPP3,MPP3 EXON Nonsense_R424X,Silent exm1327252 17 41891391 [T/C] NM_001932,NR_003562 MPP3,MPP3 EXON Missense_V415I,Silent exm1327259 17 41891655 [T/C] NM_001932,NR_003562 MPP3,MPP3 EXON Missense_G362R,Silent exm1327262 17 41891684 [T/C] NM_001932,NR_003562 MPP3,MPP3 EXON Missense_G352D,Silent exm1327270 17 41895435 [T/G] NM_001932,NR_003562 MPP3,MPP3 EXON Missense_Q309K,Silent exm1327282 17 41898392 [T/C] NM_001932,NR_003562 MPP3,MPP3 EXON Missense_R240Q,Silent exm1327285 17 41901316 [A/G] NM_001932,NR_003562 MPP3,MPP3 EXON Missense_R223C,Silent exm1327286 17 41901366 [T/G] NM_001932,NR_003562 MPP3,MPP3 EXON Missense_S206Y,Silent exm1327292 17 41905120 [A/G] NM_001932,NR_003562 MPP3,MPP3 EXON Synonymous_S174S,Silent exm1888069 17 41907051 [T/C] NM_001932,NR_003562 MPP3,MPP3 EXON Missense_V138I,Silent exm1327329 17 41925962 [G/C] NM_001168322,NM_145273,NM_001168324,NM_001168323 CD300LG,CD300LG,CD300LG,CD300LG EXON Missense_G27A,Missense_G27A,Missense_G27A,Missense_G27A exm1327337 17 41926126 [T/C] NM_001168322,NM_145273,NM_001168324,NM_001168323 CD300LG,CD300LG,CD300LG,CD300LG EXON Missense_R82C,Missense_R82C,Missense_R82C,Missense_R82C exm1327340 17 41926136 [A/G] NM_001168322,NM_145273,NM_001168324,NM_001168323 CD300LG,CD300LG,CD300LG,CD300LG EXON Missense_R85H,Missense_R85H,Missense_R85H,Missense_R85H exm1888089 17 41926141 [A/G] NM_001168322,NM_145273,NM_001168324,NM_001168323 CD300LG,CD300LG,CD300LG,CD300LG EXON Missense_E87K,Missense_E87K,Missense_E87K,Missense_E87K exm1327349 17 41930283 [C/G] NM_001168322,NM_145273,NM_001168324,NM_001168323 CD300LG,CD300LG,CD300LG,CD300LG EXON Missense_P128R,Missense_P128R,Silent,Silent exm-rs4793040 17 41930569 [A/G] NM_001168322,NM_145273,NM_001168324,NM_001168323 CD300LG,CD300LG,CD300LG,CD300LG Silent,Silent,Silent,Silent exm1327367 17 41931375 [A/G] NM_001168322,NM_145273,NM_001168324,NM_001168323 CD300LG,CD300LG,CD300LG,CD300LG EXON Missense_T228A,Missense_T228A,Missense_T143A,Missense_T194A exm1327378 17 41934500 [C/G] NM_001168322,NM_145273,NM_001168324,NM_001168323 CD300LG,CD300LG,CD300LG,CD300LG EXON Missense_N287K,Missense_N287K,Missense_N202K,Missense_N253K exm1327379 17 41934501 [A/G] NM_001168322,NM_145273,NM_001168324,NM_001168323 CD300LG,CD300LG,CD300LG,CD300LG EXON Missense_E288K,Missense_E288K,Missense_E203K,Missense_E254K exm1327385 17 41939170 [T/C] NM_145273 CD300LG EXON Missense_A297V exm1327390 17 41939212 [T/C] NM_145273 CD300LG EXON Missense_V311A exm1327394 17 41939278 [A/G] NM_145273 CD300LG EXON Missense_X333W exm1327402 17 41955305 [T/C] NM_005374 MPP2 EXON Missense_R510Q exm1327404 17 41955315 [A/G] NM_005374 MPP2 EXON Missense_R507C exm1327408 17 41955336 [A/G] NM_005374 MPP2 EXON Missense_R500W exm1327413 17 41956770 [A/G] NM_005374 MPP2 EXON Missense_A452V exm1327432 17 41958118 [T/C] NM_005374 MPP2 EXON Missense_R364H exm1327438 17 41958515 [T/C] NM_005374 MPP2 EXON Missense_G311S exm1327467 17 41960634 [G/C] NM_005374 MPP2 EXON Missense_H80Q exm1327477 17 41981816 [T/C] NM_005374 MPP2 EXON Missense_A5T exm-rs231485 17 41982012 [A/G] NM_005374 MPP2 Silent exm1327489 17 42018541 [T/C] NM_002722 PPY EXON Missense_E78G exm1327491 17 42018556 [A/G] NM_002722 PPY EXON Missense_T73M exm1327492 17 42018835 [A/G] NM_002722 PPY EXON Missense_P63L exm1327493 17 42018847 [A/G] NM_002722 PPY EXON Missense_M59T exm1327500 17 42019010 [A/G] NM_002722 PPY EXON Missense_R5C exm1327510 17 42030528 [A/G] NM_004160 PYY EXON Missense_L73P exm1327511 17 42030531 [G/C] NM_004160 PYY EXON Missense_T72R exm2253021 17 42031331 [T/C] NM_004160 PYY EXON Silent exm1327530 17 42082315 [T/C] NM_153006 NAGS EXON Missense_P95L exm1327534 17 42082405 [A/C] NM_153006 NAGS EXON Missense_T125K exm1888166 17 42083921 [A/G] NM_153006 NAGS EXON Missense_A314T exm1327563 17 42084810 [A/G] NM_153006 NAGS EXON Missense_D406N exm1327586 17 42089387 [A/G] NM_032376 TMEM101 EXON Missense_T228M exm1327599 17 42090507 [T/C] NM_032376 TMEM101 EXON Missense_R112H exm1327603 17 42091769 [T/C] NM_032376 TMEM101 EXON Missense_A92T exm1327615 17 42113647 [C/G] NM_152344 LSM12 EXON Missense_V173L exm-IND17-39496836 17 42141311 [I/D] NM_152344 LSM12 exm1327629 17 42148499 [A/G] NM_138387,NR_028582,NR_028581 G6PC3,G6PC3,G6PC3 EXON Missense_A56T,Silent,Silent exm1327630 17 42148502 [A/G] NM_138387,NR_028582,NR_028581 G6PC3,G6PC3,G6PC3 EXON Missense_V57M,Silent,Silent exm1327636 17 42152128 [T/C] NM_138387,NR_028582,NR_028581 G6PC3,G6PC3,G6PC3 EXON Missense_R136W,Silent,Silent exm1327642 17 42152708 [A/G] NM_138387,NR_028582,NR_028581 G6PC3,G6PC3,G6PC3 EXON Missense_R189Q,Silent,Silent exm1327645 17 42152789 [T/C] NM_138387,NR_028582,NR_028581 G6PC3,G6PC3,G6PC3 EXON Missense_T216I,Silent,Silent exm1327650 17 42153097 [A/G] NM_138387,NR_028582,NR_028581 G6PC3,G6PC3,G6PC3 EXON Missense_V243M,Silent,Silent exm1327652 17 42153148 [C/G] NM_138387,NR_028582,NR_028581 G6PC3,G6PC3,G6PC3 EXON Missense_G260R,Silent,Silent exm1327655 17 42153185 [A/G] NM_138387,NR_028582,NR_028581 G6PC3,G6PC3,G6PC3 EXON Missense_Q272R,Silent,Silent exm1327656 17 42153190 [T/C] NM_138387,NR_028582,NR_028581 G6PC3,G6PC3,G6PC3 EXON Missense_R274C,Silent,Silent exm1327679 17 42155892 [A/G] NM_005474,NM_001015053 HDAC5,HDAC5 EXON Missense_A1102V,Missense_A1103V exm1327706 17 42158204 [T/G] NM_005474,NM_001015053 HDAC5,HDAC5 EXON Missense_P885H,Missense_P886H exm2272589 17 42158310 [T/G] NM_005474,NM_001015053 HDAC5,HDAC5 Silent,Silent exm1327720 17 42161005 [T/C] NM_005474,NM_001015053 HDAC5,HDAC5 EXON Missense_V791M,Missense_V792M exm1888241 17 42161214 [T/C] NM_005474,NM_001015053 HDAC5,HDAC5 EXON Missense_S772G,Missense_S773G exm2253023 17 42162468 [A/G] NM_005474,NM_001015053 HDAC5,HDAC5 EXON Synonymous_H702H,Synonymous_H703H exm1327731 17 42164059 [A/G] NM_005474,NM_001015053 HDAC5,HDAC5 EXON Missense_A644V,Missense_A645V exm1327732 17 42164086 [A/G] NM_005474,NM_001015053 HDAC5,HDAC5 EXON Missense_P635L,Missense_P636L exm1327738 17 42164885 [G/C] NM_005474,NM_001015053 HDAC5,HDAC5 EXON Missense_D593E,Missense_D594E exm1327739 17 42164894 [G/C] NM_005474,NM_001015053 HDAC5,HDAC5 EXON Missense_D590E,Missense_D591E exm1327745 17 42164970 [G/C] NM_005474,NM_001015053 HDAC5,HDAC5 EXON Missense_G565A,Missense_G566A exm1327747 17 42165766 [T/G] NM_005474,NM_001015053 HDAC5,HDAC5 EXON Missense_Q530K,Missense_Q531K exm1327753 17 42165927 [T/C] NM_005474,NM_001015053 HDAC5,HDAC5 EXON Missense_R476H,Missense_R477H exm1327763 17 42168782 [T/C] NM_005474,NM_001015053 HDAC5,HDAC5 EXON Missense_G415S,Missense_G416S exm1327779 17 42169068 [A/C] NM_005474,NM_001015053 HDAC5,HDAC5 EXON Synonymous_T388T,Synonymous_T389T exm1327794 17 42169817 [T/C] NM_005474,NM_001015053 HDAC5,HDAC5 EXON Missense_R284H,Missense_R285H exm1327817 17 42171052 [A/G] NM_005474,NM_001015053 HDAC5,HDAC5 EXON Missense_A82V,Missense_A83V exm1327828 17 42171202 [A/C] NM_005474,NM_001015053 HDAC5,HDAC5 EXON Missense_V32G,Missense_V33G exm1327830 17 42188129 [A/G] NM_005474,NM_001015053 HDAC5,HDAC5 EXON Missense_P21L,Missense_P22L exm-rs228769 17 42193185 [G/C] NM_005474,NM_001015053 HDAC5,HDAC5 Silent,Silent exm1327844 17 42225250 [A/G] NM_001171251,NM_024032 C17orf53,C17orf53 EXON Missense_A27T,Missense_A27T exm1327846 17 42225272 [T/C] NM_001171251,NM_024032 C17orf53,C17orf53 EXON Missense_S34L,Missense_S34L exm1327848 17 42225301 [T/C] NM_001171251,NM_024032 C17orf53,C17orf53 EXON Missense_P44S,Missense_P44S exm1327850 17 42225344 [C/G] NM_001171251,NM_024032 C17orf53,C17orf53 EXON Missense_S58C,Missense_S58C exm1327851 17 42225445 [T/C] NM_001171251,NM_024032 C17orf53,C17orf53 EXON Missense_R92C,Missense_R92C exm1327852 17 42225446 [A/G] NM_001171251,NM_024032 C17orf53,C17orf53 EXON Missense_R92H,Missense_R92H exm2274946 17 42225482 [T/C] NM_001171251,NM_024032 C17orf53,C17orf53 EXON Missense_V104A,Missense_V104A exm1327856 17 42225547 [A/C] NM_001171251,NM_024032 C17orf53,C17orf53 EXON Missense_T126P,Missense_T126P exm1327868 17 42225838 [A/G] NM_001171251,NM_024032 C17orf53,C17orf53 EXON Missense_M223V,Missense_M223V exm1327872 17 42225872 [T/C] NM_001171251,NM_024032 C17orf53,C17orf53 EXON Missense_I234T,Missense_I234T exm1327873 17 42225893 [T/C] NM_001171251,NM_024032 C17orf53,C17orf53 EXON Missense_P241L,Missense_P241L exm1327884 17 42226061 [T/C] NM_001171251,NM_024032 C17orf53,C17orf53 EXON Missense_P297L,Missense_P297L exm1327886 17 42226124 [A/G] NM_001171251,NM_024032 C17orf53,C17orf53 EXON Missense_R318Q,Missense_R318Q exm1327887 17 42226139 [A/G] NM_001171251,NM_024032 C17orf53,C17orf53 EXON Missense_S323N,Missense_S323N exm1888310 17 42226196 [A/C] NM_001171251,NM_024032 C17orf53,C17orf53 EXON Missense_P342Q,Missense_P342Q exm1327892 17 42226333 [T/C] NM_001171251,NM_024032 C17orf53,C17orf53 EXON Missense_H388Y,Missense_H388Y exm1327895 17 42226378 [A/G] NM_001171251,NM_024032 C17orf53,C17orf53 EXON Missense_G403R,Missense_G403R exm1888315 17 42228345 [T/C] NM_001171251,NM_024032 C17orf53,C17orf53 EXON Missense_L414P,Missense_L414P exm1327900 17 42231961 [A/C] NM_001171251,NM_024032 C17orf53,C17orf53 EXON Missense_N496T,Missense_N497T exm1327914 17 42232768 [T/C] NM_001171251,NM_024032 C17orf53,C17orf53 EXON Missense_P587S,Missense_P588S exm1327915 17 42232769 [T/C] NM_001171251,NM_024032 C17orf53,C17orf53 EXON Missense_P587L,Missense_P588L exm1327917 17 42235243 [A/G] NM_001171251,NM_024032 C17orf53,C17orf53 EXON Missense_E605K,Missense_E606K exm1327919 17 42235265 [A/C] NM_001171251,NM_024032 C17orf53,C17orf53 EXON Missense_N612T,Missense_N613T exm1327920 17 42235291 [G/C] NM_001171251,NM_024032 C17orf53,C17orf53 EXON Missense_E621Q,Missense_E622Q exm1327922 17 42239292 [A/G] NM_001171251,NM_024032 C17orf53,C17orf53 EXON Missense_S645G,Missense_S646G exm1327932 17 42248212 [T/C] NM_080863 ASB16 EXON Nonsense_Q19X exm1888337 17 42248221 [A/T] NM_080863 ASB16 EXON Missense_W22R exm1327941 17 42248296 [A/G] NM_080863 ASB16 EXON Missense_A47T exm1327943 17 42248318 [A/G] NM_080863 ASB16 EXON Missense_R54H exm1327945 17 42248346 [A/T] NM_080863 ASB16 EXON Missense_Q63H exm1327951 17 42248447 [T/C] NM_080863 ASB16 EXON Missense_S97L exm1888341 17 42249473 [T/C] NM_080863 ASB16 EXON Nonsense_R121X exm1327956 17 42249506 [T/C] NM_080863 ASB16 EXON Missense_R132W exm1327957 17 42249507 [A/G] NM_080863 ASB16 EXON Missense_R132Q exm1327959 17 42249542 [T/C] NM_080863 ASB16 EXON Missense_R144C exm1327962 17 42249570 [A/G] NM_080863 ASB16 EXON Missense_R153Q exm1327963 17 42249590 [A/C] NM_080863 ASB16 EXON Synonymous_R160R exm1327965 17 42249608 [A/G] NM_080863 ASB16 EXON Missense_G166R exm1327975 17 42254134 [A/G] NM_080863,NR_049730,NR_049729 ASB16,ASB16-AS1,ASB16-AS1 EXON Missense_A200T,Silent,Silent exm1327976 17 42254138 [A/C] NM_080863,NR_049730,NR_049729 ASB16,ASB16-AS1,ASB16-AS1 EXON Missense_T201K,Silent,Silent exm1327979 17 42254161 [A/G] NM_080863,NR_049730,NR_049729 ASB16,ASB16-AS1,ASB16-AS1 EXON Missense_S209G,Silent,Silent exm1327980 17 42254165 [A/G] NM_080863,NR_049730,NR_049729 ASB16,ASB16-AS1,ASB16-AS1 EXON Missense_Q210R,Silent,Silent exm1327984 17 42254204 [A/G] NM_080863,NR_049730,NR_049729 ASB16,ASB16-AS1,ASB16-AS1 EXON Missense_E223G,Silent,Silent exm1327986 17 42254236 [A/G] NM_080863,NR_049730,NR_049729 ASB16,ASB16-AS1,ASB16-AS1 EXON Missense_A234T,Silent,Silent exm1327988 17 42254255 [T/C] NM_080863,NR_049730,NR_049729 ASB16,ASB16-AS1,ASB16-AS1 EXON Missense_T240I,Silent,Silent exm1327999 17 42254508 [A/G] NM_080863,NR_049730,NR_049729 ASB16,ASB16-AS1,ASB16-AS1 EXON Synonymous_A324A,Silent,Silent exm1328002 17 42254527 [T/G] NM_080863,NR_049730,NR_049729 ASB16,ASB16-AS1,ASB16-AS1 EXON Missense_S331A,Silent,Silent exm1328011 17 42255087 [G/C] NM_080863,NR_049730,NR_049729 ASB16,ASB16-AS1,ASB16-AS1 EXON Missense_W391C,Silent,Silent exm1328016 17 42255628 [T/C] NM_080863,NR_049730,NR_049729 ASB16,ASB16-AS1,ASB16-AS1 EXON Missense_L411P,Silent,Silent exm1328018 17 42255642 [T/C] NM_080863,NR_049730,NR_049729 ASB16,ASB16-AS1,ASB16-AS1 EXON Nonsense_R416X,Silent,Silent exm2274947 17 42255661 [A/G] NM_080863,NR_049730,NR_049729 ASB16,ASB16-AS1,ASB16-AS1 EXON Missense_R422Q,Silent,Silent exm1328026 17 42255670 [T/G] NM_080863,NR_049730,NR_049729 ASB16,ASB16-AS1,ASB16-AS1 EXON Missense_S425I,Silent,Silent exm1888358 17 42255705 [A/C] NM_080863,NR_049730,NR_049729 ASB16,ASB16-AS1,ASB16-AS1 EXON Missense_P437T,Silent,Silent exm1328046 17 42266619 [C/G] NM_001076674,NM_024107,NM_177441 TMUB2,TMUB2,TMUB2 EXON Missense_A89P,Missense_A69P,Missense_A69P exm1328059 17 42266899 [A/G] NM_001076674,NM_024107,NM_177441 TMUB2,TMUB2,TMUB2 EXON Missense_N182S,Missense_N162S,Missense_N162S exm1328065 17 42267949 [A/G] NM_001076674,NM_024107,NM_177441 TMUB2,TMUB2,TMUB2 EXON Missense_R228H,Missense_R208H,Missense_R208H exm2253024 17 42272470 [A/G] NM_001098833,NM_020218 ATXN7L3,ATXN7L3 EXON Synonymous_C220C,Synonymous_C227C exm1888389 17 42272792 [T/C] NM_001098833,NM_020218 ATXN7L3,ATXN7L3 EXON Missense_T206A,Missense_T213A exm1328115 17 42272824 [T/G] NM_001098833,NM_020218 ATXN7L3,ATXN7L3 EXON Missense_T195N,Missense_T202N exm1328122 17 42273181 [A/G] NM_001098833,NM_020218 ATXN7L3,ATXN7L3 EXON Missense_S180L,Missense_S187L exm1328169 17 42286738 [T/G] NR_045058,NM_001076684,NM_001076683,NM_014233 UBTF,UBTF,UBTF,UBTF EXON Silent,Missense_H592Q,Missense_H592Q,Missense_H629Q exm1328188 17 42287787 [T/C] NR_045058,NM_001076684,NM_001076683,NM_014233 UBTF,UBTF,UBTF,UBTF EXON Silent,Missense_G435S,Missense_G435S,Missense_G472S exm1328200 17 42288424 [T/C] NR_045058,NM_001076684,NM_001076683,NM_014233 UBTF,UBTF,UBTF,UBTF EXON Silent,Missense_A359T,Missense_A359T,Missense_A396T exm1328239 17 42327861 [A/G] NM_000342 SLC4A1 EXON Missense_R901W exm1328243 17 42328579 [A/G] NM_000342 SLC4A1 EXON Missense_P868L exm1328244 17 42328598 [T/C] NM_000342 SLC4A1 EXON Missense_V862I exm1328246 17 42328621 [A/G] NM_000342 SLC4A1 EXON Missense_P854L exm1328282 17 42333099 [T/G] NM_000342 SLC4A1 EXON Missense_T581N exm1328288 17 42334822 [T/C] NM_000342 SLC4A1 EXON Missense_E508K exm1328297 17 42335121 [A/G] NM_000342 SLC4A1 EXON Missense_V446A exm1328316 17 42335485 [T/C] NM_000342 SLC4A1 EXON Missense_R384H exm1328326 17 42335888 [C/G] NM_000342 SLC4A1 EXON Missense_P327R exm1328328 17 42335984 [T/C] NM_000342 SLC4A1 EXON Missense_R295H exm1328338 17 42336674 [T/C] NM_000342 SLC4A1 EXON Missense_V245M exm1328341 17 42336701 [A/C] NM_000342 SLC4A1 EXON Missense_F236V exm2253025 17 42336944 [A/G] NM_000342 SLC4A1 EXON Synonymous_D205D exm1328352 17 42337247 [T/C] NM_000342 SLC4A1 EXON Missense_R180H exm1328356 17 42337800 [T/G] NM_000342 SLC4A1 EXON Missense_L153M exm1328360 17 42337869 [T/C] NM_000342 SLC4A1 EXON Missense_G130R exm1328365 17 42338015 [T/C] NM_000342 SLC4A1 EXON Missense_V113I exm1328371 17 42338136 [A/C] NM_000342 SLC4A1 EXON Missense_E72D exm1328375 17 42338945 [T/C] NM_000342 SLC4A1 EXON Missense_K56E exm1328376 17 42338993 [T/C] NM_000342 SLC4A1 EXON Missense_E40K exm1328377 17 42338998 [T/G] NM_000342 SLC4A1 EXON Missense_D38A exm1888504 17 42340018 [A/G] NM_000342 SLC4A1 EXON Missense_M31T exm1328421 17 42393865 [G/C] NM_001144826,NM_001144825,NM_006695 RUNDC3A,RUNDC3A,RUNDC3A EXON Missense_A351P,Missense_A356P,Missense_A356P exm1328423 17 42393999 [A/G] NM_001144826,NM_001144825,NM_006695 RUNDC3A,RUNDC3A,RUNDC3A EXON Missense_M363I,Missense_M368I,Missense_M368I exm2226483 17 42395476 [T/C] NM_001144825 RUNDC3A EXON Missense_T404M exm1328429 17 42395568 [A/G] NM_001144825 RUNDC3A EXON Missense_D435N exm1328433 17 42397386 [A/G] NM_016016,NM_001143780 SLC25A39,SLC25A39 EXON Missense_R347W,Missense_R355W exm1328448 17 42397740 [A/G] NM_016016,NM_001143780 SLC25A39,SLC25A39 EXON Missense_A281V,Missense_A289V exm1328455 17 42398052 [A/G] NM_016016,NM_001143780 SLC25A39,SLC25A39 EXON Missense_F239L,Missense_F247L exm1328469 17 42398802 [A/G] NM_016016,NM_001143780 SLC25A39,SLC25A39 EXON Synonymous_L165L,Synonymous_L173L exm1328479 17 42399071 [A/G] NM_016016,NM_001143780 SLC25A39,SLC25A39 EXON Missense_T122I,Missense_T130I exm1888548 17 42399875 [T/C] NM_016016,NM_001143780 SLC25A39,SLC25A39 EXON Missense_N71S,Missense_N79S exm1328506 17 42426587 [T/C] NM_002087 GRN EXON Missense_R19W exm1328512 17 42426884 [A/G] NM_002087 GRN EXON Missense_V77I exm1328526 17 42427605 [A/C] NM_002087 GRN EXON Missense_S120Y exm1328528 17 42427625 [G/C] NM_002087 GRN EXON Missense_P127A exm1328550 17 42428094 [T/C] NM_002087 GRN EXON Missense_R212W exm1328568 17 42428954 [A/G] NM_002087 GRN EXON Missense_A324T exm1328577 17 42429110 [A/G] NM_002087 GRN EXON Missense_D376N exm1328588 17 42429500 [T/C] NM_002087 GRN EXON Missense_R433W exm1328589 17 42429501 [A/G] NM_002087 GRN EXON Missense_R433Q exm1328595 17 42429728 [A/G] NM_002087 GRN EXON Missense_R478H exm1328604 17 42429835 [A/G] NM_002087 GRN EXON Missense_V514M exm1328610 17 42430032 [A/G] NM_002087 GRN EXON Missense_V550I exm2226488 17 42433386 [A/G] NM_198475 FAM171A2 EXON Missense_W279R exm2226489 17 42433610 [C/G] NM_198475 FAM171A2 EXON Missense_V237L exm1328652 17 42437446 [T/C] NM_198475 FAM171A2 EXON Missense_R58Q exm1328721 17 42455822 [T/C] NM_000419 ITGA2B EXON Missense_A668T exm1328727 17 42456012 [A/C] NM_000419 ITGA2B EXON Missense_V649L exm1328732 17 42457089 [T/C] NM_000419 ITGA2B EXON Missense_V616M exm1328739 17 42457414 [T/C] NM_000419 ITGA2B EXON Missense_G570R exm1328745 17 42457495 [A/G] NM_000419 ITGA2B EXON Missense_R543W exm1328751 17 42457629 [T/G] NM_000419 ITGA2B EXON Missense_I529L exm1888651 17 42457994 [A/G] NM_000419 ITGA2B EXON Synonymous_Y471Y exm1328764 17 42458265 [T/C] NM_000419 ITGA2B EXON Missense_D459N exm1328771 17 42458414 [G/C] NM_000419 ITGA2B EXON Missense_A409G exm1328772 17 42460875 [T/C] NM_000419 ITGA2B EXON Missense_R399Q exm1328796 17 42462576 [A/G] NM_000419 ITGA2B EXON Missense_A209V exm1328805 17 42463054 [C/G] NM_000419 ITGA2B EXON Missense_L147V exm1328810 17 42463404 [T/C] NM_000419 ITGA2B EXON Missense_Q95R exm1328816 17 42466724 [T/C] NM_000419 ITGA2B EXON Missense_T40A exm1328820 17 42466834 [T/C] NM_000419 ITGA2B EXON Missense_R3K exm2272519 17 42472045 [T/G] exm1328830 17 42475257 [G/C] NR_036474,NM_001002909 GPATCH8,GPATCH8 EXON Silent,Missense_H1396Q exm1328832 17 42475271 [T/C] NR_036474,NM_001002909 GPATCH8,GPATCH8 EXON Silent,Missense_G1392S exm1328833 17 42475277 [T/C] NR_036474,NM_001002909 GPATCH8,GPATCH8 EXON Silent,Missense_A1390T exm1328836 17 42475328 [T/C] NR_036474,NM_001002909 GPATCH8,GPATCH8 EXON Silent,Missense_T1373A exm1328847 17 42475670 [T/C] NR_036474,NM_001002909 GPATCH8,GPATCH8 EXON Silent,Missense_S1259G exm1328862 17 42475942 [G/C] NR_036474,NM_001002909 GPATCH8,GPATCH8 EXON Silent,Missense_R1168T exm1888685 17 42475972 [T/C] NR_036474,NM_001002909 GPATCH8,GPATCH8 EXON Silent,Missense_N1158S exm1328865 17 42476012 [T/G] NR_036474,NM_001002909 GPATCH8,GPATCH8 EXON Silent,Missense_L1145I exm1328879 17 42476464 [T/C] NR_036474,NM_001002909 GPATCH8,GPATCH8 EXON Silent,Missense_R994H exm1328880 17 42476471 [A/G] NR_036474,NM_001002909 GPATCH8,GPATCH8 EXON Silent,Missense_R992C exm1328884 17 42476530 [T/C] NR_036474,NM_001002909 GPATCH8,GPATCH8 EXON Silent,Missense_R972Q exm1328887 17 42476561 [A/T] NR_036474,NM_001002909 GPATCH8,GPATCH8 EXON Silent,Missense_S962C exm1328892 17 42476576 [A/G] NR_036474,NM_001002909 GPATCH8,GPATCH8 EXON Silent,Missense_R957W exm1328893 17 42476578 [A/G] NR_036474,NM_001002909 GPATCH8,GPATCH8 EXON Silent,Missense_S956F exm1328895 17 42476645 [T/C] NR_036474,NM_001002909 GPATCH8,GPATCH8 EXON Silent,Missense_D934N exm1328897 17 42476672 [A/G] NR_036474,NM_001002909 GPATCH8,GPATCH8 EXON Silent,Missense_R925W exm1328899 17 42476726 [A/G] NR_036474,NM_001002909 GPATCH8,GPATCH8 EXON Silent,Missense_R907C exm1328906 17 42476854 [T/C] NR_036474,NM_001002909 GPATCH8,GPATCH8 EXON Silent,Missense_R864H exm1328933 17 42477385 [T/C] NR_036474,NM_001002909 GPATCH8,GPATCH8 EXON Silent,Missense_H687R exm1328937 17 42477499 [T/C] NR_036474,NM_001002909 GPATCH8,GPATCH8 EXON Silent,Missense_G649D exm1328957 17 42478140 [T/A] NR_036474,NM_001002909 GPATCH8,GPATCH8 EXON Silent,Missense_K435N exm1888706 17 42478381 [A/G] NR_036474,NM_001002909 GPATCH8,GPATCH8 EXON Silent,Missense_L355P exm1328970 17 42478610 [T/C] NR_036474,NM_001002909 GPATCH8,GPATCH8 EXON Silent,Missense_A279T exm1328987 17 42552212 [T/G] NR_036474,NM_001002909 GPATCH8,GPATCH8 EXON Silent,Missense_D35E exm1329013 17 42635805 [T/C] NM_001466 FZD2 EXON Missense_T250I exm1329037 17 42636579 [T/C] NM_001466 FZD2 EXON Missense_A508V exm1329060 17 42743946 [T/C] NM_001145080 C17orf104 EXON Missense_L223F exm1329061 17 42743964 [C/G] NM_001145080 C17orf104 EXON Missense_G229R exm1329064 17 42744210 [T/A] NM_001145080 C17orf104 EXON Missense_M311L exm1329065 17 42744238 [A/C] NM_001145080 C17orf104 EXON Missense_N320T exm1329073 17 42744508 [G/C] NM_001145080 C17orf104 EXON Missense_A410G exm1329087 17 42745065 [A/C] NM_001145080 C17orf104 EXON Missense_K596Q exm1329089 17 42745180 [A/G] NM_001145080 C17orf104 EXON Missense_Y634C exm1329092 17 42745254 [A/C] NM_001145080 C17orf104 EXON Missense_R659S exm1329095 17 42745314 [T/G] NM_001145080 C17orf104 EXON Missense_C679G exm1329097 17 42745413 [T/C] NM_001145080 C17orf104 EXON Missense_Y712H exm1329123 17 42767010 [T/C] NM_001099225,NM_144609 CCDC43,CCDC43 EXON Missense_A38T,Missense_A38T exm1329136 17 42786711 [A/G] NR_036623,NM_145663,NM_025104 DBF4B,DBF4B,DBF4B EXON Silent,Missense_S20N,Missense_S20N exm2226497 17 42786726 [G/C] NR_036623,NM_145663,NM_025104 DBF4B,DBF4B,DBF4B EXON Silent,Missense_P25R,Missense_P25R exm1888757 17 42800286 [C/G] NR_036623,NM_145663,NM_025104 DBF4B,DBF4B,DBF4B EXON Silent,Missense_P41A,Missense_P41A exm1329144 17 42807295 [A/G] NR_036623,NM_145663,NM_025104 DBF4B,DBF4B,DBF4B EXON Silent,Missense_K83R,Missense_K83R exm1329147 17 42807322 [T/G] NR_036623,NM_145663,NM_025104 DBF4B,DBF4B,DBF4B EXON Silent,Missense_R92L,Missense_R92L exm1329149 17 42807464 [A/G] NR_036623,NM_145663,NM_025104 DBF4B,DBF4B,DBF4B EXON Silent,Synonymous_S139S,Synonymous_S139S exm1329161 17 42811497 [T/C] NR_036623,NM_145663,NM_025104 DBF4B,DBF4B,DBF4B EXON Silent,Missense_L199S,Missense_L199S exm1329165 17 42814228 [T/C] NR_036623,NM_145663,NM_025104 DBF4B,DBF4B,DBF4B EXON Silent,Missense_R221W,Missense_R221W exm1329166 17 42814229 [A/G] NR_036623,NM_145663,NM_025104 DBF4B,DBF4B,DBF4B EXON Silent,Missense_R221Q,Missense_R221Q exm1329171 17 42818711 [T/C] NR_036623,NM_145663,NM_025104 DBF4B,DBF4B,DBF4B EXON Silent,Missense_R241C,Missense_R241C exm1888789 17 42828097 [T/G] NM_145663,NM_025104 DBF4B,DBF4B EXON Missense_G442C,Silent exm1329196 17 42828227 [T/C] NM_145663,NM_025104 DBF4B,DBF4B EXON Missense_P485L,Silent exm1329198 17 42828305 [A/G] NM_145663,NM_025104 DBF4B,DBF4B EXON Missense_R511H,Silent exm1329202 17 42828415 [T/C] NM_145663,NM_025104 DBF4B,DBF4B EXON Missense_L548F,Silent exm1329204 17 42828437 [A/G] NM_145663,NM_025104 DBF4B,DBF4B EXON Missense_R555Q,Silent exm1329205 17 42828442 [T/C] NM_145663,NM_025104 DBF4B,DBF4B EXON Missense_R557W,Silent exm1329209 17 42828484 [T/A] NM_145663,NM_025104 DBF4B,DBF4B EXON Missense_S571T,Silent exm1888794 17 42828512 [T/C] NM_145663,NM_025104 DBF4B,DBF4B EXON Missense_S580F,Silent exm2253027 17 42837205 [A/G] NM_002390 ADAM11 EXON Synonymous_G59G exm1329226 17 42847388 [C/G] NM_002390 ADAM11 EXON Missense_S118T exm1329233 17 42849158 [A/G] NM_002390 ADAM11 EXON Missense_V168M exm1329244 17 42850243 [A/G] NM_002390 ADAM11 EXON Missense_T233A exm1329255 17 42850656 [A/G] NM_002390 ADAM11 EXON Missense_I285V exm1329260 17 42850734 [T/C] NM_002390 ADAM11 EXON Missense_R311W exm2226501 17 42852616 [C/G] NM_002390 ADAM11 EXON Missense_I419M exm1329306 17 42855130 [T/C] NM_002390 ADAM11 EXON Missense_P657S exm1329336 17 42882006 [T/C] NM_001080383,NM_005497 GJC1,GJC1 EXON Missense_V394I,Missense_V394I exm1329356 17 42882477 [T/C] NM_001080383,NM_005497 GJC1,GJC1 EXON Missense_G237S,Missense_G237S exm1329376 17 42925537 [A/G] NM_001271880,NM_016438,NR_073504 HIGD1B,HIGD1B,HIGD1B EXON Missense_R6H,Missense_R6H,Silent exm1329392 17 42926747 [A/G] NM_001271880,NM_016438,NR_073504 HIGD1B,HIGD1B,HIGD1B EXON Missense_I76V,Missense_I76V,Silent exm1329394 17 42927721 [A/G] NM_001271880,NM_016438,NR_073504,NM_001258353,NM_004247,NM_001258354,NM_001142605 HIGD1B,HIGD1B,HIGD1B,EFTUD2,EFTUD2,EFTUD2,EFTUD2 EXON Missense_S86N,Missense_S86N,Silent,Silent,Silent,Silent,Silent exm1329395 17 42927723 [A/G] NM_001271880,NM_016438,NR_073504,NM_001258353,NM_004247,NM_001258354,NM_001142605 HIGD1B,HIGD1B,HIGD1B,EFTUD2,EFTUD2,EFTUD2,EFTUD2 EXON Missense_D87N,Missense_D87N,Silent,Silent,Silent,Silent,Silent exm1329398 17 42927747 [A/G] NM_001271880,NM_016438,NR_073504,NM_001258353,NM_004247,NM_001258354,NM_001142605 HIGD1B,HIGD1B,HIGD1B,EFTUD2,EFTUD2,EFTUD2,EFTUD2 EXON Missense_D95N,Missense_D95N,Silent,Silent,Silent,Silent,Silent exm1329404 17 42928655 [T/C] NM_001258353,NM_004247,NM_001258354,NM_001142605 EFTUD2,EFTUD2,EFTUD2,EFTUD2 EXON Missense_N969S,Missense_N969S,Missense_N959S,Missense_N934S exm1329406 17 42929092 [T/G] NM_001258353,NM_004247,NM_001258354,NM_001142605 EFTUD2,EFTUD2,EFTUD2,EFTUD2 EXON Missense_T937P,Missense_T937P,Missense_T927P,Missense_T902P exm2253028 17 42934505 [T/C] NM_001258353,NM_004247,NM_001258354,NM_001142605 EFTUD2,EFTUD2,EFTUD2,EFTUD2 EXON Synonymous_T661T,Synonymous_T661T,Synonymous_T651T,Synonymous_T626T exm1329452 17 42941073 [T/C] NM_001258353,NM_004247,NM_001258354,NM_001142605 EFTUD2,EFTUD2,EFTUD2,EFTUD2 EXON Missense_G455S,Missense_G455S,Missense_G445S,Missense_G420S exm1329502 17 42978397 [G/C] NM_001258397,NM_001258396,NM_001258399,NM_001258398,NM_001258395,NM_213607 CCDC103,CCDC103,CCDC103,CCDC103,CCDC103,CCDC103 EXON Missense_A11P,Missense_A11P,Missense_A11P,Missense_A11P,Missense_A11P,Missense_A11P exm1888928 17 42978926 [A/G] NM_001258397,NM_001258396,NM_001258399,NM_001258398,NM_001258395,NM_213607 CCDC103,CCDC103,CCDC103,CCDC103,CCDC103,CCDC103 EXON Missense_R61Q,Missense_R61Q,Missense_R61Q,Missense_R61Q,Missense_R61Q,Missense_R61Q exm1329510 17 42979019 [T/C] NM_001258397,NM_001258396,NM_001258399,NM_001258398,NM_001258395,NM_213607 CCDC103,CCDC103,CCDC103,CCDC103,CCDC103,CCDC103 EXON Missense_P92L,Missense_P92L,Missense_P92L,Missense_P92L,Missense_P92L,Missense_P92L exm1329522 17 42979917 [A/C] NM_001258397,NM_001258396,NM_001258399,NM_001258398,NM_001258395,NM_213607 CCDC103,CCDC103,CCDC103,CCDC103,CCDC103,CCDC103 EXON Silent,Missense_H154P,Silent,Silent,Missense_H154P,Missense_H154P exm1329556 17 42985442 [T/C] NM_002055 GFAP EXON Missense_R416Q exm1329563 17 42987512 [A/G] NM_002055,NM_001131019,NM_001242376 GFAP,GFAP,GFAP EXON Silent,Missense_R430C,Silent exm1329566 17 42987524 [T/C] NM_002055,NM_001131019,NM_001242376 GFAP,GFAP,GFAP EXON Silent,Missense_T426A,Silent exm1329567 17 42987539 [A/G] NM_002055,NM_001131019,NM_001242376 GFAP,GFAP,GFAP EXON Silent,Nonsense_Q421X,Silent exm1329569 17 42987563 [A/G] NM_002055,NM_001131019,NM_001242376 GFAP,GFAP,GFAP EXON Silent,Nonsense_R413X,Silent exm1329584 17 42989063 [T/C] NM_002055,NM_001131019,NM_001242376 GFAP,GFAP,GFAP EXON Missense_D295N,Missense_D295N,Missense_D295N exm1329587 17 42989098 [T/C] NM_002055,NM_001131019,NM_001242376 GFAP,GFAP,GFAP EXON Missense_N283S,Missense_N283S,Missense_N283S exm1329600 17 42990750 [C/G] NM_002055,NM_001131019,NM_001242376 GFAP,GFAP,GFAP EXON Missense_E223Q,Missense_E223Q,Missense_E223Q exm1329612 17 42992422 [T/C] NM_002055,NM_001131019,NM_001242376 GFAP,GFAP,GFAP EXON Missense_A145T,Missense_A145T,Missense_A145T exm1329623 17 42992526 [G/C] NM_002055,NM_001131019,NM_001242376 GFAP,GFAP,GFAP EXON Missense_T110S,Missense_T110S,Missense_T110S exm1329624 17 42992542 [A/G] NM_002055,NM_001131019,NM_001242376 GFAP,GFAP,GFAP EXON Missense_R105W,Missense_R105W,Missense_R105W exm2253029 17 42992813 [A/G] NM_002055,NM_001131019,NM_001242376 GFAP,GFAP,GFAP EXON Synonymous_Y14Y,Synonymous_Y14Y,Synonymous_Y14Y exm1329650 17 43003465 [T/C] NM_001264573,NM_001265577 KIF18B,KIF18B EXON Silent,Missense_V848I exm1329651 17 43003482 [A/G] NM_001264573,NM_001265577 KIF18B,KIF18B EXON Silent,Missense_L842P exm1329655 17 43003522 [G/C] NM_001264573,NM_001265577 KIF18B,KIF18B EXON Silent,Missense_R829G exm1888966 17 43005655 [A/G] NM_001264573,NM_001265577 KIF18B,KIF18B EXON Missense_P684L,Missense_P672L exm1329678 17 43005722 [T/G] NM_001264573,NM_001265577 KIF18B,KIF18B EXON Missense_Q662K,Missense_Q650K exm1329685 17 43005869 [T/C] NM_001264573,NM_001265577 KIF18B,KIF18B EXON Missense_S613G,Missense_S601G exm2276517 17 43005874 [T/C] NM_001264573,NM_001265577 KIF18B,KIF18B EXON Missense_R611Q,Missense_R599Q exm1329699 17 43006370 [T/C] NM_001264573,NM_001265577 KIF18B,KIF18B EXON Missense_V526I,Missense_V514I exm1329720 17 43010330 [T/C] NM_001264573,NM_001265577 KIF18B,KIF18B EXON Missense_D363N,Missense_D363N exm1329724 17 43011392 [A/G] NM_001264573,NM_001265577 KIF18B,KIF18B EXON Missense_R321C,Missense_R321C exm1329742 17 43011971 [G/C] NM_001264573,NM_001265577 KIF18B,KIF18B EXON Missense_E197D,Missense_E197D exm1329743 17 43011973 [C/G] NM_001264573,NM_001265577 KIF18B,KIF18B EXON Missense_E197Q,Missense_E197Q exm1329747 17 43012248 [T/C] NM_001264573,NM_001265577 KIF18B,KIF18B EXON Missense_R176H,Missense_R176H exm1329754 17 43012698 [T/C] NM_001264573,NM_001265577 KIF18B,KIF18B EXON Missense_V134M,Missense_V134M exm1329758 17 43013436 [T/C] NM_001264573,NM_001265577 KIF18B,KIF18B EXON Missense_V93I,Missense_V93I exm1889000 17 43013460 [C/G] NM_001264573,NM_001265577 KIF18B,KIF18B EXON Missense_V85L,Missense_V85L exm2260660 17 43055039 [A/G] exm2272520 17 43101382 [T/C] NM_024819,NM_001128631 DCAKD,DCAKD EXON Silent,Silent exm1329819 17 43101938 [A/G] NM_024819,NM_001128631 DCAKD,DCAKD EXON Missense_R187C,Missense_R187C exm1329821 17 43101980 [A/G] NM_024819,NM_001128631 DCAKD,DCAKD EXON Missense_R173C,Missense_R173C exm1329822 17 43101988 [A/C] NM_024819,NM_001128631 DCAKD,DCAKD EXON Missense_R170L,Missense_R170L exm1329828 17 43102042 [T/C] NM_024819,NM_001128631 DCAKD,DCAKD EXON Missense_R152H,Missense_R152H exm1329829 17 43102043 [A/G] NM_024819,NM_001128631 DCAKD,DCAKD EXON Missense_R152C,Missense_R152C exm1329831 17 43102058 [A/G] NM_024819,NM_001128631 DCAKD,DCAKD EXON Missense_R147W,Missense_R147W exm1329833 17 43102088 [A/G] NM_024819,NM_001128631 DCAKD,DCAKD EXON Missense_R137W,Missense_R137W exm1329838 17 43107542 [A/G] NM_024819,NM_001128631 DCAKD,DCAKD EXON Missense_R108C,Missense_R108C exm1329841 17 43111558 [A/G] NM_024819,NM_001128631 DCAKD,DCAKD EXON Missense_R105W,Missense_R105W exm1329848 17 43111633 [A/G] NM_024819,NM_001128631 DCAKD,DCAKD EXON Missense_R80W,Missense_R80W exm1329863 17 43111756 [T/C] NM_024819,NM_001128631 DCAKD,DCAKD EXON Missense_V39M,Missense_V39M exm-rs4793172 17 43131480 [A/T] NM_024819 DCAKD Silent exm1329880 17 43159028 [A/G] NM_021079 NMT1 EXON Missense_N50D exm1329889 17 43164015 [A/G] NM_021079 NMT1 EXON Missense_K127R exm1329892 17 43171160 [A/G] NM_021079 NMT1 EXON Missense_D165N exm1329915 17 43180418 [A/G] NM_021079 NMT1 EXON Missense_V365I exm2273553 17 43183108 [A/G] NM_021079 NMT1 EXON Silent exm1889046 17 43190256 [T/C] NM_133373 PLCD3 EXON Missense_H752R exm1329937 17 43190322 [T/C] NM_133373 PLCD3 EXON Missense_H730R exm1329939 17 43190368 [T/C] NM_133373 PLCD3 EXON Missense_A715T exm1329940 17 43190515 [T/C] NM_133373 PLCD3 EXON Missense_R702K exm1329952 17 43191656 [T/C] NM_133373 PLCD3 EXON Missense_T597A exm1329960 17 43192529 [A/G] NM_133373 PLCD3 EXON Missense_T548M exm1329965 17 43192556 [T/C] NM_133373 PLCD3 EXON Missense_R539H exm1329983 17 43195378 [A/G] NM_133373 PLCD3 EXON Missense_R415C exm1329990 17 43195786 [T/G] NM_133373 PLCD3 EXON Missense_D329E exm1330003 17 43196299 [T/C] NM_133373 PLCD3 EXON Missense_E266K exm-rs12946454 17 43208121 [A/T] NM_133373 PLCD3 Silent exm2226509 17 43212963 [T/G] NM_001135704 ACBD4 EXON Silent exm1330039 17 43213528 [A/C] NM_001135704,NM_001135706,NM_024722,NM_001135707,NM_001135705 ACBD4,ACBD4,ACBD4,ACBD4,ACBD4 EXON Missense_E6A,Missense_E6A,Missense_E6A,Missense_E6A,Missense_E6A exm1330044 17 43213913 [C/G] NM_001135704,NM_001135706,NM_024722,NM_001135707,NM_001135705 ACBD4,ACBD4,ACBD4,ACBD4,ACBD4 EXON Nonsense_Y45X,Nonsense_Y45X,Nonsense_Y45X,Nonsense_Y45X,Nonsense_Y45X exm1330055 17 43214132 [A/G] NM_001135704,NM_001135706,NM_024722,NM_001135707,NM_001135705 ACBD4,ACBD4,ACBD4,ACBD4,ACBD4 EXON Missense_V95M,Missense_V95M,Missense_V95M,Missense_V95M,Missense_V95M exm1330058 17 43214444 [T/C] NM_001135704,NM_001135706,NM_024722,NM_001135707,NM_001135705 ACBD4,ACBD4,ACBD4,ACBD4,ACBD4 EXON Missense_P118L,Missense_P118L,Missense_P118L,Missense_P118L,Missense_P118L exm2275348 17 43214452 [T/C] NM_001135704,NM_001135706,NM_024722,NM_001135707,NM_001135705 ACBD4,ACBD4,ACBD4,ACBD4,ACBD4 EXON Nonsense_Q121X,Nonsense_Q121X,Nonsense_Q121X,Nonsense_Q121X,Nonsense_Q121X exm1330061 17 43214471 [T/C] NM_001135704,NM_001135706,NM_024722,NM_001135707,NM_001135705 ACBD4,ACBD4,ACBD4,ACBD4,ACBD4 EXON Missense_P127L,Missense_P127L,Missense_P127L,Missense_P127L,Missense_P127L exm1330064 17 43214738 [A/G] NM_001135704,NM_001135706,NM_024722,NM_001135707,NM_001135705 ACBD4,ACBD4,ACBD4,ACBD4,ACBD4 EXON Nonsense_W140X,Nonsense_W140X,Nonsense_W140X,Nonsense_W140X,Nonsense_W140X exm-rs4986172 17 43216281 [T/C] NM_001135704,NM_001135706,NM_024722,NM_001135707,NM_001135705 ACBD4,ACBD4,ACBD4,ACBD4,ACBD4 Silent,Silent,Silent,Silent,Silent exm1330068 17 43216428 [T/C] NM_001135704,NM_001135706,NM_024722,NM_001135707,NM_001135705 ACBD4,ACBD4,ACBD4,ACBD4,ACBD4 EXON Missense_T243M,Missense_T243M,Synonymous_D230D,Missense_T227M,Synonymous_D230D exm1330070 17 43216460 [A/C] NM_001135704,NM_001135706,NM_024722,NM_001135707,NM_001135705 ACBD4,ACBD4,ACBD4,ACBD4,ACBD4 EXON Synonymous_R254R,Synonymous_R254R,Missense_Q241P,Synonymous_R238R,Missense_Q241P exm1330072 17 43216472 [A/G] NM_001135704,NM_001135706,NM_024722,NM_001135707,NM_001135705 ACBD4,ACBD4,ACBD4,ACBD4,ACBD4 EXON Missense_R258G,Missense_R258G,Missense_Q245R,Missense_R242G,Missense_Q245R exm1330076 17 43220908 [A/C] NM_001135704,NM_001135706,NM_024722,NM_001135705 ACBD4,ACBD4,ACBD4,ACBD4 EXON Missense_S309Y,Missense_S309Y,Synonymous_L296L,Synonymous_L296L exm1330077 17 43220921 [T/C] NM_001135704,NM_001135706,NM_024722,NM_001135705 ACBD4,ACBD4,ACBD4,ACBD4 EXON Synonymous_F313F,Synonymous_F313F,Missense_R301W,Missense_R301W exm1330086 17 43226622 [T/C] NM_006460 HEXIM1 EXON Missense_A22V exm1330098 17 43226796 [A/C] NM_006460 HEXIM1 EXON Missense_P80Q exm2226510 17 43226822 [A/G] NM_006460 HEXIM1 EXON Missense_E89K exm1330107 17 43227135 [T/G] NM_006460 HEXIM1 EXON Missense_M193R exm2226511 17 43227469 [G/C] NM_006460 HEXIM1 EXON Missense_E304D exm1330139 17 43246601 [T/C] NM_144608 HEXIM2 EXON Missense_S96P exm1330141 17 43246641 [A/G] NM_144608 HEXIM2 EXON Missense_S109N exm1330150 17 43246901 [A/G] NM_144608 HEXIM2 EXON Missense_T196A exm1889119 17 43247151 [A/G] NM_144608 HEXIM2 EXON Missense_R279H exm1330168 17 43308023 [A/G] NM_005892 FMNL1 EXON Missense_N61S exm1330172 17 43311047 [A/G] NM_005892 FMNL1 EXON Missense_R145H exm1330175 17 43311439 [A/G] NM_005892 FMNL1 EXON Synonymous_T162T exm2253032 17 43311463 [T/C] NM_005892 FMNL1 EXON Synonymous_N170N exm1889129 17 43313552 [A/T] NM_005892 FMNL1 EXON Missense_S222C exm2226513 17 43313597 [A/G] NM_005892 FMNL1 EXON Missense_I237V exm1889151 17 43318566 [A/G] NM_005892 FMNL1 EXON Missense_S434N exm1330251 17 43320554 [A/G] NM_005892 FMNL1 EXON Missense_A694T exm1330284 17 43322628 [A/G] NM_005892 FMNL1 EXON Missense_D913N exm1330289 17 43322766 [A/G] NM_005892 FMNL1 EXON Missense_D959N exm1330306 17 43323629 [A/G] NM_005892 FMNL1 EXON Missense_R1048Q exm1330317 17 43332512 [A/G] NR_024434,NM_152343 MAP3K14-AS1,SPATA32 EXON Silent,Missense_T346M exm1330326 17 43332689 [T/C] NR_024434,NM_152343 MAP3K14-AS1,SPATA32 EXON Silent,Missense_R287Q exm1330327 17 43332705 [T/C] NR_024434,NM_152343 MAP3K14-AS1,SPATA32 EXON Silent,Missense_T282A exm1330335 17 43332939 [T/C] NR_024434,NM_152343 MAP3K14-AS1,SPATA32 EXON Silent,Missense_E204K exm1330342 17 43332999 [T/C] NR_024434,NM_152343 MAP3K14-AS1,SPATA32 EXON Silent,Missense_A184T exm1330343 17 43333031 [T/C] NR_024434,NM_152343 MAP3K14-AS1,SPATA32 EXON Silent,Missense_R173Q exm1330348 17 43333125 [T/C] NR_024434,NM_152343 MAP3K14-AS1,SPATA32 EXON Silent,Missense_V142M exm1330354 17 43333215 [T/C] NR_024434,NM_152343 MAP3K14-AS1,SPATA32 EXON Silent,Missense_V112I exm1330362 17 43333317 [A/G] NR_024434,NM_152343 MAP3K14-AS1,SPATA32 EXON Silent,Missense_Y78H exm2253033 17 43336574 [T/C] NR_024434,NM_152343 MAP3K14-AS1,SPATA32 Silent,Silent exm1330395 17 43342141 [C/G] NR_024434,NR_024435,NM_003954 MAP3K14-AS1,MAP3K14-AS1,MAP3K14 EXON Silent,Silent,Nonsense_S902X exm1330399 17 43342594 [T/C] NR_024434,NR_024435,NM_003954 MAP3K14-AS1,MAP3K14-AS1,MAP3K14 EXON Silent,Silent,Missense_T872A exm1330407 17 43344474 [T/C] NR_024434,NR_024435,NM_003954 MAP3K14-AS1,MAP3K14-AS1,MAP3K14 EXON Silent,Silent,Missense_R806Q exm1330434 17 43351517 [T/G] NM_003954 MAP3K14 EXON Missense_H508Q exm1330435 17 43351553 [T/C] NM_003954 MAP3K14 EXON Nonsense_W496X exm1330443 17 43363847 [T/C] NM_003954 MAP3K14 EXON Missense_G368R exm1330450 17 43364070 [T/G] NM_003954 MAP3K14 EXON Missense_R293S exm1330461 17 43364536 [T/C] NM_003954 MAP3K14 EXON Missense_C174Y exm1330464 17 43364638 [T/C] NM_003954 MAP3K14 EXON Missense_S140N exm1330471 17 43367957 [T/C] NM_003954 MAP3K14 EXON Missense_C52Y exm1330494 17 43473587 [T/C] NM_199282 ARHGAP27 EXON Missense_Y405C exm1330521 17 43475401 [C/G] NM_199282 ARHGAP27 EXON Missense_D245H exm1330522 17 43475403 [T/C] NM_199282 ARHGAP27 EXON Missense_R244Q exm1330524 17 43480168 [A/C] NM_199282 ARHGAP27 EXON Missense_F211C exm1330531 17 43481419 [A/G] NM_199282 ARHGAP27 EXON Missense_T167M exm1330551 17 43482468 [C/G] NM_199282 ARHGAP27 EXON Missense_P16R exm1330568 17 43507008 [C/G] NM_174919 ARHGAP27 EXON Missense_P213R exm-rs11012 17 43513441 [T/C] NM_014798,NR_027774,NR_027782 PLEKHM1,PLEKHM1,PLEKHM1 EXON Silent,Silent,Silent exm1330590 17 43515261 [T/C] NM_014798,NR_027774,NR_027782 PLEKHM1,PLEKHM1,PLEKHM1 EXON Missense_R1045H,Silent,Silent exm-rs2942168 17 43714850 [A/G] NM_001256299,NR_026680,NR_027295 CRHR1,MGC57346,MGC57346 EXON Silent,Silent,Silent exm-rs393152 17 43719143 [A/G] NM_001256299,NR_026905,NR_026906 CRHR1,CRHR1-IT1,CRHR1-IT1 EXON Silent,Silent,Silent exm2272590 17 43783370 [T/C] NM_001256299 CRHR1 Silent exm-rs9303521 17 43805194 [T/G] NM_001256299 CRHR1 Silent exm2226531 17 43906931 [T/G] NM_001256299,NM_004382,NM_001145147,NM_001145148,NM_001145146 CRHR1,CRHR1,CRHR1,CRHR1,CRHR1 EXON Silent,Silent,Silent,Silent,Missense_G147C exm1330732 17 43906973 [A/G] NM_001256299,NM_004382,NM_001145147,NM_001145148,NM_001145146 CRHR1,CRHR1,CRHR1,CRHR1,CRHR1 EXON Silent,Silent,Silent,Silent,Missense_V161M exm1330785 17 43922348 [A/G] NR_024559,NM_175882 MAPT-AS1,SPPL2C EXON Silent,Missense_V26M exm1330787 17 43922357 [A/G] NR_024559,NM_175882 MAPT-AS1,SPPL2C EXON Silent,Missense_V29M exm1330789 17 43922374 [A/G] NR_024559,NM_175882 MAPT-AS1,SPPL2C EXON Silent,Nonsense_W34X exm1330791 17 43922409 [A/G] NR_024559,NM_175882 MAPT-AS1,SPPL2C EXON Silent,Missense_Y46C exm1330795 17 43922474 [T/C] NR_024559,NM_175882 MAPT-AS1,SPPL2C EXON Silent,Missense_P68S exm1330798 17 43922501 [T/C] NR_024559,NM_175882 MAPT-AS1,SPPL2C EXON Silent,Missense_H77Y exm1330801 17 43922535 [T/C] NR_024559,NM_175882 MAPT-AS1,SPPL2C EXON Silent,Missense_P88L exm1330806 17 43922586 [T/C] NR_024559,NM_175882 MAPT-AS1,SPPL2C EXON Silent,Missense_T105M exm1330809 17 43922640 [A/G] NR_024559,NM_175882 MAPT-AS1,SPPL2C EXON Silent,Missense_R123Q exm1330812 17 43922672 [A/C] NR_024559,NM_175882 MAPT-AS1,SPPL2C EXON Silent,Missense_L134M exm1330813 17 43922681 [A/C] NR_024559,NM_175882 MAPT-AS1,SPPL2C EXON Silent,Missense_Q137K exm1330815 17 43922716 [C/G] NR_024559,NM_175882 MAPT-AS1,SPPL2C EXON Silent,Missense_I148M exm1330817 17 43922771 [T/G] NR_024559,NM_175882 MAPT-AS1,SPPL2C EXON Silent,Missense_G167W exm1330818 17 43922780 [A/G] NR_024559,NM_175882 MAPT-AS1,SPPL2C EXON Silent,Missense_V170I exm1330819 17 43922786 [C/G] NR_024559,NM_175882 MAPT-AS1,SPPL2C EXON Silent,Missense_R172G exm1330822 17 43922805 [C/G] NR_024559,NM_175882 MAPT-AS1,SPPL2C EXON Silent,Missense_P178R exm1330831 17 43922897 [A/G] NR_024559,NM_175882 MAPT-AS1,SPPL2C EXON Silent,Missense_E209K exm1330833 17 43922916 [A/G] NR_024559,NM_175882 MAPT-AS1,SPPL2C EXON Silent,Missense_R215Q exm1330834 17 43922918 [T/C] NR_024559,NM_175882 MAPT-AS1,SPPL2C EXON Silent,Missense_R216C exm1330835 17 43922921 [T/C] NR_024559,NM_175882 MAPT-AS1,SPPL2C EXON Silent,Missense_R217C exm1889444 17 43922922 [A/G] NR_024559,NM_175882 MAPT-AS1,SPPL2C EXON Silent,Missense_R217H exm1330838 17 43922927 [T/C] NR_024559,NM_175882 MAPT-AS1,SPPL2C EXON Silent,Nonsense_R219X exm1330842 17 43922942 [T/C] NR_024559,NM_175882 MAPT-AS1,SPPL2C EXON Silent,Missense_S224P exm1330848 17 43923044 [T/G] NR_024559,NM_175882 MAPT-AS1,SPPL2C EXON Silent,Missense_V258L exm1330856 17 43923191 [T/C] NR_024559,NM_175882 MAPT-AS1,SPPL2C EXON Silent,Missense_R307W exm1330857 17 43923192 [A/G] NR_024559,NM_175882 MAPT-AS1,SPPL2C EXON Silent,Missense_R307Q exm1330866 17 43923266 [A/G] NR_024559,NM_175882 MAPT-AS1,SPPL2C EXON Silent,Missense_A332T exm1330873 17 43923359 [A/G] NR_024559,NM_175882 MAPT-AS1,SPPL2C EXON Silent,Missense_V363I exm1330881 17 43923446 [A/G] NR_024559,NM_175882 MAPT-AS1,SPPL2C EXON Silent,Missense_V392I exm1330883 17 43923503 [G/C] NR_024559,NM_175882 MAPT-AS1,SPPL2C EXON Silent,Missense_P411A exm1330886 17 43923569 [A/G] NR_024559,NM_175882 MAPT-AS1,SPPL2C EXON Silent,Missense_A433T exm1330892 17 43923654 [G/C] NR_024559,NM_175882 MAPT-AS1,SPPL2C EXON Silent,Missense_R461P exm1330895 17 43923683 [A/G] NR_024559,NM_175882 MAPT-AS1,SPPL2C EXON Silent,Missense_I471V exm1330902 17 43923753 [T/G] NR_024559,NM_175882 MAPT-AS1,SPPL2C EXON Silent,Missense_M494R exm1889458 17 43923966 [C/G] NR_024559,NM_175882 MAPT-AS1,SPPL2C EXON Silent,Missense_T565S exm1330910 17 43923969 [A/G] NR_024559,NM_175882 MAPT-AS1,SPPL2C EXON Silent,Missense_S566N exm1330913 17 43924010 [A/G] NR_024559,NM_175882 MAPT-AS1,SPPL2C EXON Silent,Missense_T580A exm2226532 17 43924028 [A/G] NR_024559,NM_175882 MAPT-AS1,SPPL2C EXON Silent,Missense_I586V exm1330915 17 43924073 [T/C] NR_024559,NM_175882 MAPT-AS1,SPPL2C EXON Silent,Missense_S601P exm1330916 17 43924074 [T/C] NR_024559,NM_175882 MAPT-AS1,SPPL2C EXON Silent,Missense_S601F exm1330919 17 43924130 [A/G] NR_024559,NM_175882 MAPT-AS1,SPPL2C EXON Silent,Missense_G620R exm1330925 17 43924200 [G/C] NR_024559,NM_175882 MAPT-AS1,SPPL2C EXON Silent,Missense_P643R exm1330931 17 43924248 [T/C] NR_024559,NM_175882 MAPT-AS1,SPPL2C EXON Silent,Missense_T659I exm1330932 17 43924254 [T/G] NR_024559,NM_175882 MAPT-AS1,SPPL2C EXON Silent,Missense_L661R exm1889463 17 43924292 [A/G] NR_024559,NM_175882 MAPT-AS1,SPPL2C EXON Silent,Missense_V674I exm2264629 17 43985636 [A/C] NM_001123066,NM_001203252,NM_005910,NM_001123067,NM_016841,NM_001203251,NM_016834,NM_016835 MAPT,MAPT,MAPT,MAPT,MAPT,MAPT,MAPT,MAPT Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm-rs242557 17 44019712 [A/G] NM_001123066,NM_001203252,NM_005910,NM_001123067,NM_016841,NM_001203251,NM_016834,NM_016835 MAPT,MAPT,MAPT,MAPT,MAPT,MAPT,MAPT,MAPT Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm2226534 17 44039717 [A/G] NM_001123066,NM_001203252,NM_005910,NM_001123067,NM_016841,NM_001203251,NM_016834,NM_016835 MAPT,MAPT,MAPT,MAPT,MAPT,MAPT,MAPT,MAPT EXON Missense_R5H,Missense_R5H,Missense_R5H,Missense_R5H,Missense_R5H,Missense_R5H,Missense_R5H,Missense_R5H exm1330941 17 44039753 [T/C] NM_001123066,NM_001203252,NM_005910,NM_001123067,NM_016841,NM_001203251,NM_016834,NM_016835 MAPT,MAPT,MAPT,MAPT,MAPT,MAPT,MAPT,MAPT EXON Missense_T17M,Missense_T17M,Missense_T17M,Missense_T17M,Missense_T17M,Missense_T17M,Missense_T17M,Missense_T17M exm1330962 17 44055753 [A/G] NM_001123066,NM_001203252,NM_005910,NM_001123067,NM_016841,NM_001203251,NM_016834,NM_016835 MAPT,MAPT,MAPT,MAPT,MAPT,MAPT,MAPT,MAPT EXON Missense_G107D,Missense_G107D,Missense_G107D,Missense_G78D,Missense_G49D,Missense_G78D,Missense_G49D,Missense_G107D exm1889476 17 44060588 [T/C] NM_001123066,NM_001203252,NM_005910,NM_001123067,NM_016841,NM_001203251,NM_016834,NM_016835 MAPT,MAPT,MAPT,MAPT,MAPT,MAPT,MAPT,MAPT EXON Missense_P140S,Silent,Silent,Silent,Silent,Silent,Silent,Missense_P140S exm1330981 17 44060807 [A/G] NM_001123066,NM_001203252,NM_005910,NM_001123067,NM_016841,NM_001203251,NM_016834,NM_016835 MAPT,MAPT,MAPT,MAPT,MAPT,MAPT,MAPT,MAPT EXON Missense_G213R,Silent,Silent,Silent,Silent,Silent,Silent,Missense_G213R exm1330988 17 44060859 [A/G] NM_001123066,NM_001203252,NM_005910,NM_001123067,NM_016841,NM_001203251,NM_016834,NM_016835 MAPT,MAPT,MAPT,MAPT,MAPT,MAPT,MAPT,MAPT EXON Missense_Q230R,Silent,Silent,Silent,Silent,Silent,Silent,Missense_Q230R exm1330997 17 44061015 [T/C] NM_001123066,NM_001203252,NM_005910,NM_001123067,NM_016841,NM_001203251,NM_016834,NM_016835 MAPT,MAPT,MAPT,MAPT,MAPT,MAPT,MAPT,MAPT EXON Missense_S282L,Silent,Silent,Silent,Silent,Silent,Silent,Missense_S282L exm1330998 17 44061023 [A/G] NM_001123066,NM_001203252,NM_005910,NM_001123067,NM_016841,NM_001203251,NM_016834,NM_016835 MAPT,MAPT,MAPT,MAPT,MAPT,MAPT,MAPT,MAPT EXON Missense_D285N,Silent,Silent,Silent,Silent,Silent,Silent,Missense_D285N exm1331000 17 44061036 [T/C] NM_001123066,NM_001203252,NM_005910,NM_001123067,NM_016841,NM_001203251,NM_016834,NM_016835 MAPT,MAPT,MAPT,MAPT,MAPT,MAPT,MAPT,MAPT EXON Missense_V289A,Silent,Silent,Silent,Silent,Silent,Silent,Missense_V289A exm1331004 17 44061123 [T/C] NM_001123066,NM_001203252,NM_005910,NM_001123067,NM_016841,NM_001203251,NM_016834,NM_016835 MAPT,MAPT,MAPT,MAPT,MAPT,MAPT,MAPT,MAPT EXON Missense_S318L,Silent,Silent,Silent,Silent,Silent,Silent,Missense_S318L exm1331008 17 44061278 [T/C] NM_001123066,NM_001203252,NM_005910,NM_001123067,NM_016841,NM_001203251,NM_016834,NM_016835 MAPT,MAPT,MAPT,MAPT,MAPT,MAPT,MAPT,MAPT EXON Missense_R370W,Silent,Silent,Silent,Silent,Silent,Silent,Missense_R370W exm1331010 17 44064418 [A/G] NM_001123066,NM_001203252,NM_005910,NM_001123067,NM_016841,NM_001203251,NM_016834,NM_016835 MAPT,MAPT,MAPT,MAPT,MAPT,MAPT,MAPT,MAPT EXON Missense_S380N,Missense_S129N,Missense_S129N,Missense_S100N,Missense_S71N,Missense_S100N,Missense_S71N,Missense_S380N exm1331016 17 44067289 [T/C] NM_001123066,NM_001203252,NM_005910,NM_001123067,NM_016841,NM_001203251,NM_016834,NM_016835 MAPT,MAPT,MAPT,MAPT,MAPT,MAPT,MAPT,MAPT EXON Missense_L410F,Silent,Silent,Silent,Silent,Silent,Silent,Missense_L410F exm1331018 17 44067341 [T/C] NM_001123066,NM_001203252,NM_005910,NM_001123067,NM_016841,NM_001203251,NM_016834,NM_016835 MAPT,MAPT,MAPT,MAPT,MAPT,MAPT,MAPT,MAPT EXON Missense_S427F,Silent,Silent,Silent,Silent,Silent,Silent,Missense_S427F exm1331021 17 44067400 [T/C] NM_001123066,NM_001203252,NM_005910,NM_001123067,NM_016841,NM_001203251,NM_016834,NM_016835 MAPT,MAPT,MAPT,MAPT,MAPT,MAPT,MAPT,MAPT EXON Missense_S447P,Silent,Silent,Silent,Silent,Silent,Silent,Missense_S447P exm1331026 17 44068848 [T/C] NM_001123066,NM_001203252,NM_005910,NM_001123067,NM_016841,NM_001203251,NM_016834,NM_016835 MAPT,MAPT,MAPT,MAPT,MAPT,MAPT,MAPT,MAPT EXON Missense_I468T,Missense_I151T,Missense_I151T,Missense_I122T,Missense_I93T,Missense_I122T,Missense_I93T,Missense_I468T exm1331027 17 44068850 [A/G] NM_001123066,NM_001203252,NM_005910,NM_001123067,NM_016841,NM_001203251,NM_016834,NM_016835 MAPT,MAPT,MAPT,MAPT,MAPT,MAPT,MAPT,MAPT EXON Missense_A469T,Missense_A152T,Missense_A152T,Missense_A123T,Missense_A94T,Missense_A123T,Missense_A94T,Missense_A469T exm1331031 17 44068928 [A/G] NM_001123066,NM_001203252,NM_005910,NM_001123067,NM_016841,NM_001203251,NM_016834,NM_016835 MAPT,MAPT,MAPT,MAPT,MAPT,MAPT,MAPT,MAPT EXON Missense_A495T,Missense_A178T,Missense_A178T,Missense_A149T,Missense_A120T,Missense_A149T,Missense_A120T,Missense_A495T exm1889493 17 44071291 [A/G] NM_001123066,NM_001203252,NM_005910,NM_001123067,NM_016841,NM_001203251,NM_016834,NM_016835 MAPT,MAPT,MAPT,MAPT,MAPT,MAPT,MAPT,MAPT EXON Synonymous_A503A,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm1331034 17 44071316 [T/C] NM_001123066,NM_001203252,NM_005910,NM_001123067,NM_016841,NM_001203251,NM_016834,NM_016835 MAPT,MAPT,MAPT,MAPT,MAPT,MAPT,MAPT,MAPT EXON Missense_P512S,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm1331051 17 44073923 [A/G] NM_001123066,NM_001203252,NM_005910,NM_001123067,NM_016841,NM_001203251,NM_016834,NM_016835 MAPT,MAPT,MAPT,MAPT,MAPT,MAPT,MAPT,MAPT EXON Missense_A574T,Missense_A239T,Missense_A239T,Missense_A210T,Missense_A181T,Missense_A210T,Missense_A181T,Missense_A556T exm1331057 17 44076665 [A/G] NM_001123066,NM_001203252,NM_005910,NM_001123067,NM_016841,NM_001203251,NM_016834,NM_016835,NM_001007532 MAPT,MAPT,MAPT,MAPT,MAPT,MAPT,MAPT,MAPT,STH EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_Q7R exm1331063 17 44076896 [A/G] NM_001123066,NM_001203252,NM_005910,NM_001123067,NM_016841,NM_001203251,NM_016834,NM_016835,NM_001007532 MAPT,MAPT,MAPT,MAPT,MAPT,MAPT,MAPT,MAPT,STH EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_S84N exm1331064 17 44076928 [T/C] NM_001123066,NM_001203252,NM_005910,NM_001123067,NM_016841,NM_001203251,NM_016834,NM_016835,NM_001007532 MAPT,MAPT,MAPT,MAPT,MAPT,MAPT,MAPT,MAPT,STH EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_S95P exm1331067 17 44077028 [T/C] NM_001123066,NM_001203252,NM_005910,NM_001123067,NM_016841,NM_001203251,NM_016834,NM_016835,NM_001007532 MAPT,MAPT,MAPT,MAPT,MAPT,MAPT,MAPT,MAPT,STH EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_V128A exm-rs8070723 17 44081064 [A/G] NM_001123066,NM_001203252,NM_005910,NM_001123067,NM_016841,NM_001203251,NM_016834,NM_016835 MAPT,MAPT,MAPT,MAPT,MAPT,MAPT,MAPT,MAPT Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm1331071 17 44087751 [A/G] NM_001123066,NM_001203252,NM_005910,NM_001123067,NM_016841,NM_001203251,NM_016834,NM_016835 MAPT,MAPT,MAPT,MAPT,MAPT,MAPT,MAPT,MAPT EXON Missense_V635I,Silent,Missense_V300I,Missense_V271I,Silent,Silent,Missense_V242I,Missense_V617I exm1331098 17 44108906 [A/G] NM_001193466,NM_015443,NM_001193465 KANSL1,KANSL1,KANSL1 EXON Missense_I1085T,Missense_I1085T,Missense_I1084T exm1331108 17 44109450 [A/G] NM_001193466,NM_015443,NM_001193465 KANSL1,KANSL1,KANSL1 EXON Missense_T1018I,Missense_T1018I,Missense_T1017I exm1331110 17 44109474 [A/G] NM_001193466,NM_015443,NM_001193465 KANSL1,KANSL1,KANSL1 EXON Missense_P1010L,Missense_P1010L,Missense_P1009L exm1331123 17 44110775 [A/C] NM_001193466,NM_015443,NM_001193465 KANSL1,KANSL1,KANSL1 EXON Missense_N906K,Missense_N906K,Missense_N905K exm1889522 17 44110795 [T/C] NM_001193466,NM_015443,NM_001193465 KANSL1,KANSL1,KANSL1 EXON Missense_G900R,Missense_G900R,Missense_G899R exm1331128 17 44115904 [T/C] NM_001193466,NM_015443,NM_001193465 KANSL1,KANSL1,KANSL1 EXON Synonymous_S847S,Synonymous_S847S,Synonymous_S847S exm1331138 17 44116491 [A/G] NM_001193466,NM_015443,NM_001193465 KANSL1,KANSL1,KANSL1 EXON Missense_A765V,Missense_A765V,Missense_A765V exm1331144 17 44117112 [T/C] NM_001193466,NM_015443,NM_001193465 KANSL1,KANSL1,KANSL1 EXON Missense_R720H,Missense_R720H,Missense_R720H exm1331145 17 44117119 [A/G] NM_001193466,NM_015443,NM_001193465 KANSL1,KANSL1,KANSL1 EXON Missense_S718P,Missense_S718P,Missense_S718P exm1331149 17 44117161 [A/G] NM_001193466,NM_015443,NM_001193465 KANSL1,KANSL1,KANSL1 EXON Missense_S704P,Missense_S704P,Missense_S704P exm1331166 17 44143920 [T/C] NM_001193466,NM_015443,NM_001193465 KANSL1,KANSL1,KANSL1 EXON Missense_V611I,Missense_V611I,Missense_V611I exm1331168 17 44143925 [T/C] NM_001193466,NM_015443,NM_001193465 KANSL1,KANSL1,KANSL1 EXON Missense_S609N,Missense_S609N,Missense_S609N exm1331175 17 44144097 [T/G] NM_001193466,NM_015443,NM_001193465 KANSL1,KANSL1,KANSL1 EXON Missense_L552I,Missense_L552I,Missense_L552I exm2226540 17 44144915 [A/G] NM_001193466,NM_015443,NM_001193465 KANSL1,KANSL1,KANSL1 EXON Missense_T551I,Missense_T551I,Missense_T551I exm1331180 17 44144993 [C/G] NM_001193466,NM_015443,NM_001193465 KANSL1,KANSL1,KANSL1 EXON Missense_R525P,Missense_R525P,Missense_R525P exm1331189 17 44248225 [T/G] NM_001193466,NM_015443,NM_001193465 KANSL1,KANSL1,KANSL1 EXON Missense_P429T,Missense_P429T,Missense_P429T exm1331194 17 44248321 [T/C] NM_001193466,NM_015443,NM_001193465 KANSL1,KANSL1,KANSL1 EXON Missense_A397T,Missense_A397T,Missense_A397T exm1331198 17 44248386 [A/G] NM_001193466,NM_015443,NM_001193465 KANSL1,KANSL1,KANSL1 EXON Missense_S375L,Missense_S375L,Missense_S375L exm2253036 17 44248394 [T/C] NM_001193466,NM_015443,NM_001193465 KANSL1,KANSL1,KANSL1 EXON Synonymous_K372K,Synonymous_K372K,Synonymous_K372K exm2274950 17 44248423 [T/C] NM_001193466,NM_015443,NM_001193465 KANSL1,KANSL1,KANSL1 EXON Missense_T363A,Missense_T363A,Missense_T363A exm1331206 17 44248497 [A/G] NM_001193466,NM_015443,NM_001193465 KANSL1,KANSL1,KANSL1 EXON Missense_L338S,Missense_L338S,Missense_L338S exm1331209 17 44248555 [A/G] NM_001193466,NM_015443,NM_001193465 KANSL1,KANSL1,KANSL1 EXON Missense_H319Y,Missense_H319Y,Missense_H319Y exm1331218 17 44248710 [T/C] NM_001193466,NM_015443,NM_001193465 KANSL1,KANSL1,KANSL1 EXON Missense_K267R,Missense_K267R,Missense_K267R exm1331220 17 44248737 [A/G] NM_001193466,NM_015443,NM_001193465 KANSL1,KANSL1,KANSL1 EXON Missense_L258S,Missense_L258S,Missense_L258S exm1331223 17 44248783 [T/G] NM_001193466,NM_015443,NM_001193465 KANSL1,KANSL1,KANSL1 EXON Missense_Q243K,Missense_Q243K,Missense_Q243K exm1331228 17 44248822 [T/C] NM_001193466,NM_015443,NM_001193465 KANSL1,KANSL1,KANSL1 EXON Missense_N230D,Missense_N230D,Missense_N230D exm1331230 17 44248830 [T/C] NM_001193466,NM_015443,NM_001193465 KANSL1,KANSL1,KANSL1 EXON Missense_S227N,Missense_S227N,Missense_S227N exm1331231 17 44248837 [T/C] NM_001193466,NM_015443,NM_001193465 KANSL1,KANSL1,KANSL1 EXON Missense_N225D,Missense_N225D,Missense_N225D exm1331232 17 44248848 [A/G] NM_001193466,NM_015443,NM_001193465 KANSL1,KANSL1,KANSL1 EXON Missense_T221I,Missense_T221I,Missense_T221I exm1331237 17 44248890 [T/C] NM_001193466,NM_015443,NM_001193465 KANSL1,KANSL1,KANSL1 EXON Missense_N207S,Missense_N207S,Missense_N207S exm1889555 17 44248903 [G/C] NM_001193466,NM_015443,NM_001193465 KANSL1,KANSL1,KANSL1 EXON Missense_G203R,Missense_G203R,Missense_G203R exm1331248 17 44249033 [A/C] NM_001193466,NM_015443,NM_001193465 KANSL1,KANSL1,KANSL1 EXON Missense_K159N,Missense_K159N,Missense_K159N exm2253037 17 44249096 [A/C] NM_001193466,NM_015443,NM_001193465 KANSL1,KANSL1,KANSL1 EXON Synonymous_L138L,Synonymous_L138L,Synonymous_L138L exm1331251 17 44249096 [A/C] NM_001193466,NM_015443,NM_001193465 KANSL1,KANSL1,KANSL1 EXON Synonymous_L138L,Synonymous_L138L,Synonymous_L138L exm1331255 17 44249199 [T/G] NM_001193466,NM_015443,NM_001193465 KANSL1,KANSL1,KANSL1 EXON Missense_K104T,Missense_K104T,Missense_K104T exm1331263 17 44249368 [T/C] NM_001193466,NM_015443,NM_001193465 KANSL1,KANSL1,KANSL1 EXON Missense_G48R,Missense_G48R,Missense_G48R exm1331264 17 44249388 [T/C] NM_001193466,NM_015443,NM_001193465 KANSL1,KANSL1,KANSL1 EXON Missense_N41S,Missense_N41S,Missense_N41S exm1331319 17 44408792 [A/G] NM_014834,NM_016632,NM_001103154 LRRC37A,ARL17A,ARL17B EXON Missense_I1383M,Silent,Silent exm2253041 17 44647098 [T/C] NM_016632,NM_001113738 ARL17A,ARL17A Silent,Silent exm1331437 17 44791322 [T/C] NR_040116,NM_006178 NSF,NSF EXON Silent,Synonymous_S577S exm-rs199533 17 44828931 [A/G] NR_040116,NM_006178 NSF,NSF EXON Silent,Synonymous_K702K exm1331480 17 44847219 [A/G] NM_030753 WNT3 EXON Missense_A173V exm-rs2074404 17 44865439 [T/G] NM_030753 WNT3 Silent exm2253042 17 44895946 [A/G] NM_030753 WNT3 EXON Synonymous_L6L exm1331502 17 44949890 [A/G] NM_003396 WNT9B EXON Missense_G29R exm1331520 17 44950086 [A/G] NM_003396 WNT9B EXON Missense_R94Q exm1331523 17 44950122 [T/C] NM_003396 WNT9B EXON Missense_M106T exm1331527 17 44952508 [A/G] NM_003396 WNT9B EXON Missense_A126T exm1331532 17 44952586 [A/G] NM_003396 WNT9B EXON Missense_E152K exm1331535 17 44952654 [A/C] NM_003396 WNT9B EXON Missense_S174R exm1331537 17 44952687 [A/C] NM_003396 WNT9B EXON Missense_D185E exm1331543 17 44952721 [A/G] NM_003396 WNT9B EXON Missense_V197M exm1331551 17 44953675 [A/G] NM_003396 WNT9B EXON Missense_R222H exm1331554 17 44953711 [T/C] NM_003396 WNT9B EXON Missense_T234M exm1331556 17 44953732 [A/G] NM_003396 WNT9B EXON Missense_R241H exm1331558 17 44953741 [T/C] NM_003396 WNT9B EXON Missense_S244L exm2274952 17 44953783 [A/G] NM_003396 WNT9B EXON Missense_R258H exm2272591 17 44974347 [T/C] exm1331585 17 45006896 [A/G] NM_004287,NM_001012511,NM_054022 GOSR2,GOSR2,GOSR2 EXON Missense_E14K,Missense_E14K,Missense_E14K exm1331595 17 45008518 [T/C] NM_004287,NM_001012511,NM_054022 GOSR2,GOSR2,GOSR2 EXON Missense_R50C,Missense_R50C,Missense_R50C exm1331597 17 45008570 [A/G] NM_004287,NM_001012511,NM_054022 GOSR2,GOSR2,GOSR2 EXON Missense_R67K,Missense_R67K,Missense_R67K exm1331598 17 45009442 [C/G] NM_004287,NM_001012511,NM_054022 GOSR2,GOSR2,GOSR2 EXON Missense_D71E,Missense_D71E,Missense_D71E exm1331606 17 45009551 [A/C] NM_004287,NM_001012511,NM_054022 GOSR2,GOSR2,GOSR2 EXON Missense_T108P,Missense_T108P,Missense_T108P exm1331607 17 45009566 [A/G] NM_004287,NM_001012511,NM_054022 GOSR2,GOSR2,GOSR2 Silent,Silent,Silent exm1331613 17 45012446 [T/C] NM_004287,NM_001012511,NM_054022 GOSR2,GOSR2,GOSR2 EXON Missense_L130F,Missense_L130F,Missense_L130F exm1889906 17 45012451 [T/G] NM_004287,NM_001012511,NM_054022 GOSR2,GOSR2,GOSR2 EXON Missense_Q131H,Missense_Q131H,Missense_Q131H exm-rs17608766 17 45013271 [T/C] NM_004287,NM_001012511,NM_054022 GOSR2,GOSR2,GOSR2 EXON Silent,Silent,Silent exm2253043 17 45018463 [T/C] NM_004287,NM_054022 GOSR2,GOSR2 EXON Silent,Silent exm1331661 17 45214536 [T/G] NM_001114091,NM_001256 CDC27,CDC27 EXON Missense_P638H,Missense_P632H exm2226571 17 45214551 [A/G] NM_001114091,NM_001256 CDC27,CDC27 EXON Missense_A633V,Missense_A627V exm1889940 17 45214726 [G/C] NM_001114091,NM_001256 CDC27,CDC27 EXON Missense_A575P,Missense_A569P exm1331696 17 45216115 [T/A] NM_001114091,NM_001256 CDC27,CDC27 EXON Missense_N571I,Missense_N565I exm1331713 17 45216218 [A/G] NM_001114091,NM_001256 CDC27,CDC27 EXON Missense_Y537H,Missense_Y531H exm1331715 17 45216247 [A/T] NM_001114091,NM_001256 CDC27,CDC27 EXON Missense_I527K,Missense_I521K exm1331716 17 45216248 [T/G] NM_001114091,NM_001256 CDC27,CDC27 EXON Missense_I527L,Missense_I521L exm2226572 17 45219223 [A/G] NM_001114091,NM_001256 CDC27,CDC27 EXON Missense_M522T,Missense_M516T exm1331719 17 45219226 [T/G] NM_001114091,NM_001256 CDC27,CDC27 EXON Missense_Y521S,Missense_Y515S exm1331803 17 45232055 [T/C] NM_001114091,NM_001256 CDC27,CDC27 EXON Missense_G314R,Missense_G314R exm1889960 17 45232068 [A/C] NM_001114091,NM_001256 CDC27,CDC27 EXON Missense_D309E,Missense_D309E exm1331805 17 45232070 [T/C] NM_001114091,NM_001256 CDC27,CDC27 EXON Missense_D309N,Missense_D309N exm1331810 17 45232084 [A/G] NM_001114091,NM_001256 CDC27,CDC27 EXON Missense_T304I,Missense_T304I exm1331814 17 45232126 [T/G] NM_001114091,NM_001256 CDC27,CDC27 EXON Missense_P290Q,Missense_P290Q exm1331824 17 45234287 [T/G] NM_001114091,NM_001256 CDC27,CDC27 EXON Missense_L278F,Missense_L278F exm1331827 17 45234300 [T/G] NM_001114091,NM_001256 CDC27,CDC27 EXON Missense_A274D,Missense_A274D exm1331849 17 45234432 [T/G] NM_001114091,NM_001256 CDC27,CDC27 EXON Missense_S230Y,Missense_S230Y exm1331856 17 45234484 [T/C] NM_001114091,NM_001256 CDC27,CDC27 EXON Missense_N213D,Missense_N213D exm1331859 17 45234597 [A/G] NM_001114091,NM_001256 CDC27,CDC27 EXON Missense_I210T,Missense_I210T exm1331861 17 45234618 [A/G] NM_001114091,NM_001256 CDC27,CDC27 EXON Missense_T203M,Missense_T203M exm1331865 17 45234645 [G/C] NM_001114091,NM_001256 CDC27,CDC27 EXON Missense_S194C,Missense_S194C exm1331867 17 45234651 [C/G] NM_001114091,NM_001256 CDC27,CDC27 EXON Missense_S192T,Missense_S192T exm1331869 17 45234664 [T/C] NM_001114091,NM_001256 CDC27,CDC27 EXON Missense_V188I,Missense_V188I exm2226573 17 45234680 [G/C] NM_001114091,NM_001256 CDC27,CDC27 EXON Missense_N182K,Missense_N182K exm2226574 17 45234685 [A/G] NM_001114091,NM_001256 CDC27,CDC27 EXON Missense_P181S,Missense_P181S exm1331894 17 45247311 [T/G] NM_001114091,NM_001256 CDC27,CDC27 EXON Missense_T117P,Missense_T117P exm1331903 17 45247401 [C/G] NM_001114091,NM_001256 CDC27,CDC27 EXON Missense_E87Q,Missense_E87Q exm1331914 17 45249335 [T/G] NM_001114091,NM_001256 CDC27,CDC27 EXON Missense_T67P,Missense_T67P exm1331915 17 45249360 [T/A] NM_001114091,NM_001256 CDC27,CDC27 EXON Nonsense_Y58X,Nonsense_Y58X exm1889987 17 45291165 [A/G] NM_001002841,NM_002476 MYL4,MYL4 EXON Missense_I46V,Missense_I46V exm1331957 17 45297273 [T/C] NM_001002841,NM_002476 MYL4,MYL4 EXON Missense_F56S,Missense_F56S exm1889995 17 45299073 [T/G] NM_001002841,NM_002476 MYL4,MYL4 EXON Missense_F113L,Missense_F113L exm1331983 17 45299814 [T/A] NM_001002841,NM_002476 MYL4,MYL4 EXON Missense_N186Y,Missense_N186Y exm1331993 17 45360730 [T/C] NM_000212 ITGB3 EXON Missense_L59P exm1331996 17 45360751 [T/G] NM_000212 ITGB3 EXON Missense_L66R exm2226580 17 45360817 [A/G] NM_000212 ITGB3 EXON Missense_R88Q exm1332011 17 45361953 [A/G] NM_000212 ITGB3 EXON Missense_R169Q exm1332013 17 45361999 [A/C] NM_000212 ITGB3 EXON Missense_D184E exm1332014 17 45362004 [T/C] NM_000212 ITGB3 EXON Missense_P186L exm2253046 17 45363638 [G/C] NM_000212 ITGB3 EXON Synonymous_T209T exm1332025 17 45363765 [A/G] NM_000212 ITGB3 EXON Missense_I252V exm1332032 17 45367077 [A/G] NM_000212 ITGB3 EXON Missense_K324E exm1332033 17 45367092 [A/G] NM_000212 ITGB3 EXON Missense_N329D exm1332038 17 45367599 [A/G] NM_000212 ITGB3 EXON Missense_D362N exm1332047 17 45368453 [T/C] NM_000212 ITGB3 EXON Missense_T420M exm1332062 17 45369814 [T/C] NM_000212 ITGB3 EXON Missense_R524W exm1332068 17 45376714 [T/C] NM_000212 ITGB3 EXON Synonymous_S577S exm2253047 17 45376714 [T/C] NM_000212 ITGB3 EXON Synonymous_S577S exm1890063 17 45377890 [A/G] NM_000212 ITGB3 EXON Missense_E654K exm1332089 17 45380203 [T/C] NM_000212 ITGB3 EXON Missense_P711S exm1332098 17 45384950 [T/C] NM_000212 ITGB3 EXON Nonsense_R750X exm1332099 17 45384951 [A/G] NM_000212 ITGB3 EXON Missense_R750Q exm1332107 17 45412575 [T/C] NM_001195192,NM_152347 EFCAB13,EFCAB13 EXON Missense_I15T,Missense_I15T exm1332109 17 45412629 [T/C] NM_001195192,NM_152347 EFCAB13,EFCAB13 EXON Missense_T33I,Missense_T33I exm1332115 17 45419305 [C/G] NM_001195192,NM_152347 EFCAB13,EFCAB13 EXON Missense_I70M,Missense_I70M exm1332119 17 45419369 [T/C] NM_001195192,NM_152347 EFCAB13,EFCAB13 EXON Nonsense_Q92X,Nonsense_Q92X exm1332121 17 45419375 [T/C] NM_001195192,NM_152347 EFCAB13,EFCAB13 EXON Nonsense_Q94X,Nonsense_Q94X exm1332131 17 45422446 [C/G] NM_001195192,NM_152347 EFCAB13,EFCAB13 EXON Missense_H167D,Missense_H167D exm1332133 17 45425180 [A/G] NM_001195192,NM_152347 EFCAB13,EFCAB13 EXON Silent,Missense_H175R exm1332135 17 45425209 [T/C] NM_001195192,NM_152347 EFCAB13,EFCAB13 EXON Silent,Nonsense_R185X exm1332137 17 45425284 [A/G] NM_001195192,NM_152347 EFCAB13,EFCAB13 EXON Silent,Missense_M210V exm1332138 17 45425287 [T/C] NM_001195192,NM_152347 EFCAB13,EFCAB13 EXON Silent,Nonsense_R211X exm1332140 17 45438788 [T/C] NM_001195192,NM_152347 EFCAB13,EFCAB13 EXON Silent,Nonsense_R236X exm1332146 17 45438845 [T/C] NM_001195192,NM_152347 EFCAB13,EFCAB13 EXON Silent,Missense_R255C exm1332147 17 45438846 [A/G] NM_001195192,NM_152347 EFCAB13,EFCAB13 EXON Silent,Missense_R255H exm1332150 17 45438876 [A/C] NM_001195192,NM_152347 EFCAB13,EFCAB13 EXON Silent,Missense_T265N exm1332155 17 45447802 [A/G] NM_001195192,NM_152347 EFCAB13,EFCAB13 Silent,Silent exm1332157 17 45447832 [A/G] NM_001195192,NM_152347 EFCAB13,EFCAB13 EXON Missense_I183V,Missense_I279V exm1332165 17 45451894 [A/G] NM_001195192,NM_152347 EFCAB13,EFCAB13 EXON Missense_V216I,Missense_V312I exm1332168 17 45451990 [G/C] NM_001195192,NM_152347 EFCAB13,EFCAB13 EXON Missense_Q248E,Missense_Q344E exm1332178 17 45452257 [T/A] NM_001195192,NM_152347 EFCAB13,EFCAB13 EXON Nonsense_K337X,Nonsense_K433X exm1332190 17 45456558 [A/G] NM_001195192,NM_152347 EFCAB13,EFCAB13 EXON Missense_M411I,Missense_M507I exm1332192 17 45456599 [A/G] NM_001195192,NM_152347 EFCAB13,EFCAB13 EXON Missense_R425Q,Missense_R521Q exm1332194 17 45468804 [A/G] NM_001195192,NM_152347 EFCAB13,EFCAB13 EXON Synonymous_A432A,Synonymous_A528A exm1332195 17 45468842 [T/A] NM_001195192,NM_152347 EFCAB13,EFCAB13 EXON Missense_D445V,Missense_D541V exm1332196 17 45468858 [T/G] NM_001195192,NM_152347 EFCAB13,EFCAB13 EXON Nonsense_Y450X,Nonsense_Y546X exm1332198 17 45468871 [A/G] NM_001195192,NM_152347 EFCAB13,EFCAB13 EXON Missense_T455A,Missense_T551A exm2226588 17 45471442 [T/C] NM_001195192,NM_152347 EFCAB13,EFCAB13 EXON Missense_T497M,Missense_T593M exm1890125 17 45473229 [A/G] NM_001195192,NM_152347 EFCAB13,EFCAB13 EXON Missense_D515N,Missense_D611N exm1332221 17 45490184 [A/C] NM_001195192,NM_152347 EFCAB13,EFCAB13 EXON Missense_K679T,Missense_K775T exm1332225 17 45490253 [A/G] NM_001195192,NM_152347 EFCAB13,EFCAB13 EXON Missense_N702S,Missense_N798S exm1332227 17 45492231 [T/A] NM_001195192,NM_152347 EFCAB13,EFCAB13 EXON Missense_L718I,Missense_L814I exm1332230 17 45492254 [T/G] NM_001195192,NM_152347 EFCAB13,EFCAB13 EXON Missense_M725I,Missense_M821I exm1332239 17 45517841 [A/G] NM_152347 EFCAB13 EXON Missense_D895N exm1332286 17 45673795 [C/G] NM_006310 NPEPPS EXON Missense_M501I exm1332287 17 45673812 [A/G] NM_006310 NPEPPS EXON Missense_Y507C exm1332297 17 45681357 [A/G] NM_006310 NPEPPS EXON Missense_R606H exm1332299 17 45681372 [T/C] NM_006310 NPEPPS EXON Missense_P611L exm1332305 17 45682880 [T/C] NM_006310 NPEPPS EXON Missense_I686T exm1332321 17 45699143 [G/C] NM_006310 NPEPPS EXON Missense_E873Q exm1332330 17 45730168 [C/G] NM_002265,NM_001276453 KPNB1,KPNB1 EXON Missense_P70A,Silent exm1332332 17 45730207 [A/G] NM_002265,NM_001276453 KPNB1,KPNB1 EXON Missense_I83V,Silent exm2264630 17 45732774 [A/C] NM_002265,NM_001276453 KPNB1,KPNB1 Silent,Silent exm2226591 17 45748110 [A/G] NM_002265,NM_001276453 KPNB1,KPNB1 EXON Missense_V487I,Missense_V342I exm1332384 17 45755743 [A/G] NM_002265,NM_001276453 KPNB1,KPNB1 EXON Missense_V773I,Missense_V628I exm-rs8070463 17 45768836 [T/C] exm1890246 17 45773594 [T/C] NM_014726 TBKBP1 EXON Missense_A39V exm1332422 17 45776034 [A/G] NM_014726 TBKBP1 EXON Missense_Q176R exm1332426 17 45776075 [A/G] NM_014726 TBKBP1 EXON Missense_A190T exm1890261 17 45777015 [A/G] NM_014726 TBKBP1 EXON Missense_N275S exm1332439 17 45785875 [T/G] NM_014726 TBKBP1 EXON Missense_G330C exm1332457 17 45786621 [A/G] NM_014726 TBKBP1 EXON Missense_A508T exm1332468 17 45787951 [A/G] NM_014726 TBKBP1 EXON Missense_I603V exm1332487 17 45820022 [A/C] NM_013351 TBX21 EXON Missense_T180P exm1332508 17 45822139 [A/G] NM_013351 TBX21 EXON Missense_I339V exm1332517 17 45822308 [A/G] NM_013351 TBX21 EXON Missense_Y395C exm1332519 17 45822376 [T/C] NM_013351 TBX21 EXON Missense_S418P exm1332524 17 45822472 [G/C] NM_013351 TBX21 EXON Missense_P450A exm2260664 17 45880748 [T/C] exm1332547 17 45886471 [A/G] NM_145798 OSBPL7 EXON Missense_T714M exm1332572 17 45891138 [T/C] NM_145798 OSBPL7 EXON Missense_G472R exm1332577 17 45891202 [T/G] NM_145798 OSBPL7 Silent exm1332588 17 45892679 [T/G] NM_145798 OSBPL7 EXON Missense_Q387K exm1332602 17 45893979 [A/G] NM_145798 OSBPL7 EXON Missense_P293L exm1332605 17 45894054 [T/C] NM_145798 OSBPL7 EXON Missense_R268H exm1890356 17 45894055 [A/G] NM_145798 OSBPL7 EXON Missense_R268C exm1332606 17 45894147 [T/C] NM_145798 OSBPL7 EXON Missense_R265Q exm1332611 17 45894681 [T/G] NM_145798 OSBPL7 EXON Missense_L215I exm1332615 17 45895691 [T/C] NM_145798 OSBPL7 EXON Missense_R181Q exm1332616 17 45895692 [A/G] NM_145798 OSBPL7 EXON Missense_R181W exm1332619 17 45895885 [A/G] NM_145798 OSBPL7 EXON Missense_T156I exm1890363 17 45895919 [A/G] NM_145798 OSBPL7 EXON Missense_R145C exm1332630 17 45895931 [A/G] NM_145798 OSBPL7 EXON Missense_R141C exm2253049 17 45897585 [A/G] NM_145798 OSBPL7 EXON Synonymous_P20P exm2226597 17 45901633 [T/C] NM_148887,NR_037575,NM_145255 MRPL10,MRPL10,MRPL10 EXON Missense_E252K,Silent,Missense_E242K exm1332668 17 45904420 [T/C] NM_148887,NR_037575,NM_145255 MRPL10,MRPL10,MRPL10 EXON Missense_V135I,Silent,Missense_V125I exm1332670 17 45904512 [T/C] NM_148887,NR_037575,NM_145255 MRPL10,MRPL10,MRPL10 EXON Missense_R104Q,Silent,Missense_R94Q exm1332671 17 45904542 [T/C] NM_148887,NR_037575,NM_145255 MRPL10,MRPL10,MRPL10 EXON Missense_R94Q,Silent,Missense_R84Q exm1332686 17 45906033 [T/C] NM_148887,NR_037575,NM_145255 MRPL10,MRPL10,MRPL10 EXON Missense_R29Q,Silent,Missense_R19Q exm1332705 17 45911831 [T/C] NM_033413 LRRC46 EXON Missense_R53W exm1332712 17 45912752 [A/G] NM_033413 LRRC46 EXON Missense_I87V exm1332714 17 45913070 [T/A] NM_033413 LRRC46 EXON Missense_E104V exm1332723 17 45913467 [T/C] NM_033413 LRRC46 EXON Missense_R151C exm1332741 17 45914244 [A/G] NM_033413 LRRC46 EXON Missense_V242M exm1332752 17 45914403 [A/G] NM_033413 LRRC46 EXON Missense_A295T exm1332772 17 45915364 [T/C] NM_138355,NM_001145023 SCRN2,SCRN2 EXON Missense_R375Q,Silent exm1332778 17 45915715 [T/C] NM_138355,NM_001145023 SCRN2,SCRN2 EXON Missense_R347Q,Missense_R347Q exm1332779 17 45915727 [T/C] NM_138355,NM_001145023 SCRN2,SCRN2 EXON Missense_R343Q,Missense_R343Q exm1332780 17 45915734 [A/G] NM_138355,NM_001145023 SCRN2,SCRN2 EXON Missense_P341S,Missense_P341S exm1332781 17 45915766 [T/C] NM_138355,NM_001145023 SCRN2,SCRN2 EXON Missense_Q330R,Missense_Q330R exm1332785 17 45915985 [A/G] NM_138355,NM_001145023 SCRN2,SCRN2 EXON Missense_R284C,Missense_R284C exm1332787 17 45916018 [C/G] NM_138355,NM_001145023 SCRN2,SCRN2 EXON Missense_E273Q,Missense_E273Q exm1332808 17 45916809 [C/G] NM_138355,NM_001145023 SCRN2,SCRN2 Silent,Silent exm1332809 17 45916810 [T/C] NM_138355,NM_001145023 SCRN2,SCRN2 EXON Missense_E186K,Missense_E186K exm1332810 17 45916822 [A/G] NM_138355,NM_001145023 SCRN2,SCRN2 EXON Nonsense_Q182X,Nonsense_Q182X exm1332813 17 45916870 [A/G] NM_138355,NM_001145023 SCRN2,SCRN2 EXON Missense_R166C,Missense_R166C exm2226599 17 45916893 [T/C] NM_138355,NM_001145023 SCRN2,SCRN2 EXON Missense_H158R,Missense_H158R exm1332821 17 45916996 [A/G] NM_138355,NM_001145023 SCRN2,SCRN2 EXON Missense_R124W,Missense_R124W exm1332822 17 45916999 [T/C] NM_138355,NM_001145023 SCRN2,SCRN2 EXON Missense_E123K,Missense_E123K exm1332827 17 45917596 [A/G] NM_138355,NM_001145023 SCRN2,SCRN2 EXON Missense_V106A,Missense_V106A exm1332828 17 45917605 [T/C] NM_138355,NM_001145023 SCRN2,SCRN2 EXON Missense_K103R,Missense_K103R exm1332829 17 45917608 [A/G] NM_138355,NM_001145023 SCRN2,SCRN2 EXON Missense_T102M,Missense_T102M exm1332836 17 45918035 [C/G] NM_138355,NM_001145023 SCRN2,SCRN2 Silent,Silent exm1332839 17 45918050 [G/C] NM_138355,NM_001145023 SCRN2,SCRN2 EXON Missense_G54R,Missense_G54R exm1332842 17 45918205 [A/G] NM_138355,NM_001145023 SCRN2,SCRN2 EXON Missense_A2V,Missense_A2V exm1332847 17 45924787 [C/G] NM_199262,NM_001258248 SP6,SP6 EXON Missense_E337Q,Missense_E337Q exm1332886 17 45993622 [A/C] NM_003110 SP2 EXON Missense_P62H exm1332893 17 45993959 [A/C] NM_003110 SP2 EXON Missense_H174Q exm1332930 17 46000382 [T/C] NM_003110 SP2 EXON Missense_P372S exm1332931 17 46000406 [T/C] NM_003110 SP2 EXON Missense_S380P exm1332934 17 46000419 [A/G] NM_003110 SP2 EXON Missense_C384Y exm1332936 17 46000437 [A/G] NM_003110 SP2 EXON Missense_R390H exm1332946 17 46002401 [A/G] NM_003110 SP2 EXON Missense_G497R exm1890445 17 46005184 [A/C] NM_003110 SP2 EXON Missense_N612K exm1332966 17 46020688 [A/C] NM_018129 PNPO EXON Missense_H52P exm1332968 17 46020700 [T/G] NM_018129 PNPO EXON Missense_L56R exm1332974 17 46022065 [A/G] NM_018129 PNPO EXON Missense_R116Q exm1332980 17 46023280 [A/C] NM_018129 PNPO EXON Nonsense_Y157X exm1332982 17 46023295 [G/C] NM_018129 PNPO EXON Synonymous_P162P exm2253050 17 46023295 [G/C] NM_018129 PNPO EXON Synonymous_P162P exm1332984 17 46023336 [C/G] NM_018129 PNPO EXON Missense_S176C exm1332990 17 46023990 [T/G] NM_018129 PNPO EXON Missense_V210F exm1332993 17 46024060 [A/G] NM_018129 PNPO EXON Missense_R233Q exm1333000 17 46030306 [T/C] NM_024320 PRR15L EXON Missense_G99R exm1333018 17 46030551 [A/T] NM_024320 PRR15L EXON Missense_K17I exm1333019 17 46030560 [T/C] NM_024320 PRR15L EXON Missense_R14Q exm2272524 17 46042327 [T/C] exm1333027 17 46050894 [T/G] NM_176096 CDK5RAP3 EXON Missense_V21G exm1333048 17 46052881 [A/G] NM_176096 CDK5RAP3 EXON Missense_G172D exm1333050 17 46052883 [A/G] NM_176096 CDK5RAP3 EXON Missense_E173K exm1333051 17 46052901 [A/C] NM_176096 CDK5RAP3 EXON Missense_L179M exm1333067 17 46053278 [T/C] NM_176096 CDK5RAP3 EXON Missense_R233W exm1333077 17 46053353 [A/C] NM_176096 CDK5RAP3 EXON Missense_L258I exm1333082 17 46054090 [A/G] NM_176096 CDK5RAP3 EXON Missense_D271N exm1333102 17 46057959 [T/C] NM_176096 CDK5RAP3 EXON Missense_L360F exm1333103 17 46057984 [T/C] NM_176096 CDK5RAP3 EXON Missense_A368V exm1890502 17 46058700 [C/G] NM_176096 CDK5RAP3 EXON Synonymous_L485L exm1333127 17 46109523 [C/G] NM_016429 COPZ2 EXON Synonymous_A163A exm1333137 17 46110586 [A/G] NM_016429 COPZ2 EXON Missense_T116M exm1333138 17 46111243 [A/G] NM_016429 COPZ2 EXON Missense_P84S exm1333142 17 46114278 [A/G] NM_016429 COPZ2 EXON Missense_P41S exm-rs3764400 17 46123932 [T/C] exm1333159 17 46128667 [G/C] NM_003204 NFE2L1 EXON Missense_D63H exm1333163 17 46128778 [T/G] NM_003204 NFE2L1 EXON Missense_V100L exm1890513 17 46133776 [A/G] NM_003204 NFE2L1 EXON Missense_R180Q exm1333191 17 46135685 [A/G] NM_003204 NFE2L1 EXON Missense_E334G exm1333214 17 46136342 [A/G] NM_003204 NFE2L1 EXON Missense_R553H exm1333226 17 46136735 [A/G] NM_003204 NFE2L1 EXON Missense_R684H exm1333228 17 46136768 [A/G] NM_003204 NFE2L1 EXON Missense_R695Q exm1890538 17 46136969 [A/G] NM_003204 NFE2L1 EXON Missense_R762Q exm1333270 17 46190714 [T/C] NM_152244,NM_013323 SNX11,SNX11 EXON Missense_R61C,Missense_R61C exm1333289 17 46198742 [T/C] NM_152244,NM_013323 SNX11,SNX11 EXON Missense_P229S,Missense_P229S exm1333292 17 46198779 [C/G] NM_152244,NM_013323 SNX11,SNX11 EXON Missense_T241S,Missense_T241S exm1333313 17 46239844 [T/C] NM_003726,NM_001075099 SKAP1,SKAP1 EXON Missense_R322H,Missense_R321H exm1333326 17 46257518 [T/C] NM_003726,NM_001075099 SKAP1,SKAP1 EXON Missense_S242G,Missense_S242G exm1333332 17 46259769 [A/C] NM_003726,NM_001075099 SKAP1,SKAP1 EXON Missense_S206R,Missense_S206R exm1333337 17 46262171 [T/C] NM_003726,NM_001075099 SKAP1,SKAP1 EXON Missense_G161S,Missense_G161S exm-rs2084881 17 46357120 [A/G] NM_003726,NM_001075099 SKAP1,SKAP1 Silent,Silent exm-rs9303542 17 46411500 [A/G] NM_003726,NM_001075099 SKAP1,SKAP1 Silent,Silent exm1333354 17 46474066 [T/C] NM_003726,NM_001075099 SKAP1,SKAP1 EXON Missense_R43Q,Missense_R43Q exm1333363 17 46606916 [T/G] NM_002144 HOXB1 EXON Missense_T300N exm1333364 17 46606944 [T/A] NM_002144 HOXB1 EXON Missense_S291T exm1333368 17 46607021 [T/C] NM_002144 HOXB1 EXON Missense_E265G exm1333391 17 46607958 [A/T] NM_002144 HOXB1 EXON Missense_Q103H exm1333392 17 46607984 [T/G] NM_002144 HOXB1 EXON Missense_P95T exm1333406 17 46608203 [A/G] NM_002144 HOXB1 EXON Missense_Y22H exm-rs6504340 17 46617019 [A/G] exm1333419 17 46620492 [A/G] NM_002145 HOXB2 EXON Missense_S337P exm1333421 17 46620525 [C/G] NM_002145 HOXB2 EXON Missense_L326V exm1333429 17 46620639 [T/C] NM_002145 HOXB2 EXON Missense_G288R exm1333432 17 46620725 [T/A] NM_002145 HOXB2 EXON Missense_D259V exm1333437 17 46620902 [G/C] NM_002145 HOXB2 EXON Missense_R200P exm2226616 17 46621951 [G/C] NM_002145 HOXB2 EXON Missense_S108T exm1333454 17 46622006 [A/G] NM_002145 HOXB2 EXON Missense_P90S exm1333459 17 46622083 [T/C] NM_002145 HOXB2 EXON Missense_Q64R exm1333462 17 46622119 [T/G] NM_002145 HOXB2 EXON Missense_T52N exm1333464 17 46622159 [T/C] NM_002145 HOXB2 EXON Missense_E39K exm1333467 17 46622228 [A/G] NM_002145 HOXB2 EXON Missense_P16S exm1333468 17 46622238 [T/C] NM_002145 HOXB2 EXON Missense_I12M exm1333487 17 46627884 [A/G] NM_002146 HOXB3 EXON Missense_L370F exm1333497 17 46628138 [T/C] NM_002146 HOXB3 EXON Missense_S285N exm1333498 17 46628142 [A/G] NM_002146 HOXB3 EXON Missense_P284S exm1333501 17 46628177 [A/G] NM_002146 HOXB3 EXON Missense_T272M exm1333505 17 46628223 [A/C] NM_002146 HOXB3 EXON Missense_G257W exm1333517 17 46629479 [T/C] NM_002146 HOXB3 EXON Missense_G120S exm1333519 17 46629593 [T/G] NM_002146 HOXB3 EXON Missense_P82T exm1333521 17 46629610 [A/G] NM_002146 HOXB3 EXON Missense_P76L exm1333535 17 46654292 [T/C] NM_024015 HOXB4 EXON Missense_Y183C exm1333539 17 46655230 [G/C] NM_024015 HOXB4 EXON Missense_S151T exm1333541 17 46655290 [A/G] NM_024015 HOXB4 EXON Missense_P131L exm1333574 17 46670695 [A/G] NR_033201,NR_033202,NM_002147,NR_033203,NR_033204 HOXB-AS3,HOXB-AS3,HOXB5,HOXB-AS3,HOXB-AS3 EXON Silent,Silent,Missense_P117L,Silent,Silent exm1333577 17 46670858 [A/G] NR_033201,NR_033202,NM_002147,NR_033203,NR_033204 HOXB-AS3,HOXB-AS3,HOXB5,HOXB-AS3,HOXB-AS3 EXON Silent,Silent,Missense_S63P,Silent,Silent exm1333591 17 46673907 [T/G] NR_033201,NR_033202,NR_033203,NR_033204,NM_018952,NR_033205 HOXB-AS3,HOXB-AS3,HOXB-AS3,HOXB-AS3,HOXB6,HOXB-AS3 EXON Silent,Silent,Silent,Silent,Missense_H181Q,Silent exm1333602 17 46675198 [G/C] NR_033201,NR_033202,NR_033203,NR_033204,NM_018952,NR_033205 HOXB-AS3,HOXB-AS3,HOXB-AS3,HOXB-AS3,HOXB6,HOXB-AS3 EXON Silent,Silent,Silent,Silent,Missense_K105N,Silent exm1333615 17 46675434 [T/G] NR_033201,NR_033202,NR_033203,NR_033204,NM_018952,NR_033205 HOXB-AS3,HOXB-AS3,HOXB-AS3,HOXB-AS3,HOXB6,HOXB-AS3 EXON Silent,Silent,Silent,Silent,Missense_L27I,Silent exm1333616 17 46675450 [T/G] NR_033201,NR_033202,NR_033203,NR_033204,NM_018952,NR_033205 HOXB-AS3,HOXB-AS3,HOXB-AS3,HOXB-AS3,HOXB6,HOXB-AS3 EXON Silent,Silent,Silent,Silent,Missense_F21L,Silent exm1333623 17 46685286 [T/C] NM_004502 HOXB7 EXON Missense_K191R exm1333624 17 46685290 [A/T] NM_004502 HOXB7 EXON Missense_M190L exm1333625 17 46685293 [A/G] NM_004502 HOXB7 EXON Missense_R189C exm1333647 17 46688107 [G/C] NM_004502 HOXB7 EXON Missense_L58F exm1333649 17 46688126 [A/G] NM_004502 HOXB7 EXON Missense_A52V exm1333654 17 46688225 [A/G] NM_004502 HOXB7 EXON Missense_S19L exm1333655 17 46688231 [A/G] NM_004502 HOXB7 EXON Missense_S17L exm1333657 17 46688256 [T/C] NM_004502 HOXB7 EXON Missense_T9A exm1333662 17 46690623 [C/G] NM_024016 HOXB8 EXON Missense_L225V exm1333672 17 46691718 [T/C] NM_024016 HOXB8 EXON Missense_G117S exm2253053 17 46700352 [A/G] NM_024017 HOXB9 EXON Synonymous_L221L exm1333691 17 46700352 [A/G] NM_024017 HOXB9 EXON Synonymous_L221L exm1333699 17 46700486 [T/C] NM_024017 HOXB9 EXON Missense_A177T exm1333702 17 46703144 [A/C] NM_024017 HOXB9 EXON Missense_G163V exm1333707 17 46703352 [A/G] NM_024017 HOXB9 EXON Missense_Y94H exm1333708 17 46703373 [A/C] NM_024017 HOXB9 EXON Missense_V87F exm1333709 17 46703386 [G/C] NM_024017 HOXB9 EXON Missense_I82M exm1333720 17 46703591 [A/G] NM_024017 HOXB9 EXON Missense_S14L exm-rs2326017 17 46720565 [T/C] exm2264631 17 46791801 [A/C] exm1333728 17 46799219 [T/C] NM_032391 PRAC EXON Missense_D40N exm1333735 17 46799744 [A/G] NM_032391 PRAC EXON Missense_A4V exm2226624 17 46804175 [A/C] NM_006361 HOXB13 EXON Missense_V278L exm1333749 17 46804358 [A/G] NM_006361 HOXB13 EXON Missense_R217C exm1333777 17 46805768 [T/C] NM_006361 HOXB13 EXON Missense_C63Y exm1333787 17 46846430 [A/G] NM_001130918,NM_173623 TTLL6,TTLL6 EXON Missense_M866T,Missense_M559T exm1333790 17 46846511 [T/A] NM_001130918,NM_173623 TTLL6,TTLL6 EXON Missense_N839I,Missense_N532I exm1333793 17 46846584 [A/G] NM_001130918,NM_173623 TTLL6,TTLL6 EXON Missense_R815C,Missense_R508C exm1333799 17 46847196 [T/G] NM_001130918,NM_173623 TTLL6,TTLL6 EXON Missense_N768K,Missense_N461K exm1333800 17 46847221 [T/C] NM_001130918,NM_173623 TTLL6,TTLL6 EXON Nonsense_W760X,Nonsense_W453X exm1333802 17 46847233 [A/G] NM_001130918,NM_173623 TTLL6,TTLL6 EXON Missense_P756L,Missense_P449L exm1333807 17 46847364 [A/C] NM_001130918,NM_173623 TTLL6,TTLL6 EXON Missense_E712D,Missense_E405D exm1333810 17 46847395 [A/G] NM_001130918,NM_173623 TTLL6,TTLL6 EXON Missense_P702L,Missense_P395L exm1333811 17 46847417 [G/C] NM_001130918,NM_173623 TTLL6,TTLL6 EXON Missense_L695V,Missense_L388V exm1333812 17 46847447 [T/C] NM_001130918,NM_173623 TTLL6,TTLL6 EXON Missense_V685I,Missense_V378I exm1333817 17 46862392 [T/G] NM_001130918,NM_173623 TTLL6,TTLL6 EXON Missense_L645M,Missense_L338M exm1333821 17 46862418 [A/G] NM_001130918,NM_173623 TTLL6,TTLL6 EXON Missense_A636V,Missense_A329V exm1333829 17 46863575 [T/G] NM_001130918,NM_173623 TTLL6,TTLL6 EXON Missense_Q571P,Missense_Q264P exm1333831 17 46863609 [T/C] NM_001130918,NM_173623 TTLL6,TTLL6 EXON Missense_E560K,Missense_E253K exm1333842 17 46865171 [A/G] NM_001130918,NM_173623 TTLL6,TTLL6 Silent,Silent exm1333851 17 46865311 [A/G] NM_001130918,NM_173623 TTLL6,TTLL6 EXON Missense_T484M,Missense_T177M exm1333854 17 46865339 [A/G] NM_001130918,NM_173623 TTLL6,TTLL6 EXON Missense_R475W,Missense_R168W exm1333858 17 46867303 [A/G] NM_001130918,NM_173623 TTLL6,TTLL6 EXON Missense_R464W,Missense_R157W exm1333864 17 46867441 [T/C] NM_001130918,NM_173623 TTLL6,TTLL6 EXON Missense_D418N,Missense_D111N exm1333873 17 46871635 [A/C] NM_001130918,NM_173623 TTLL6,TTLL6 EXON Silent,Missense_I3S exm1333874 17 46871642 [T/C] NM_001130918,NM_173623 TTLL6,TTLL6 EXON Silent,Missense_M1V exm2226627 17 46873467 [G/C] NM_001130918 TTLL6 EXON Missense_K318N exm1333876 17 46874442 [T/C] NM_001130918 TTLL6 EXON Missense_R298H exm1333878 17 46874532 [T/C] NM_001130918 TTLL6 EXON Missense_R268Q exm1333884 17 46877063 [A/G] NM_001130918 TTLL6 EXON Missense_P224L exm2226628 17 46878711 [A/G] NM_001130918 TTLL6 EXON Missense_R173W exm1333892 17 46881264 [T/C] NM_001130918 TTLL6 EXON Missense_R117Q exm1333896 17 46882165 [A/G] NM_001130918 TTLL6 EXON Nonsense_Q98X exm1333903 17 46894356 [A/G] NM_001130918 TTLL6 EXON Nonsense_R27X exm1333905 17 46894377 [A/C] NM_001130918 TTLL6 EXON Missense_W20G exm1333922 17 46925777 [A/G] NM_001261390,NM_005831,NM_001261393,NM_001261395,NM_001261391 CALCOCO2,CALCOCO2,CALCOCO2,CALCOCO2,CALCOCO2 EXON Missense_R150H,Missense_R126H,Missense_R126H,Missense_R54H,Missense_R147H exm1333926 17 46926615 [A/G] NM_001261390,NM_005831,NM_001261393,NM_001261395,NM_001261391 CALCOCO2,CALCOCO2,CALCOCO2,CALCOCO2,CALCOCO2 EXON Missense_G164E,Missense_G140E,Silent,Missense_G68E,Missense_G161E exm1333936 17 46928952 [A/G] NM_001261390,NM_005831,NM_001261393,NM_001261395,NM_001261391 CALCOCO2,CALCOCO2,CALCOCO2,CALCOCO2,CALCOCO2 EXON Missense_E246K,Missense_E222K,Missense_E180K,Missense_E150K,Missense_E243K exm2226630 17 46928967 [A/G] NM_001261390,NM_005831,NM_001261393,NM_001261395,NM_001261391 CALCOCO2,CALCOCO2,CALCOCO2,CALCOCO2,CALCOCO2 EXON Missense_G251R,Missense_G227R,Missense_G185R,Missense_G155R,Missense_G248R exm1333942 17 46929908 [T/C] NM_001261390,NM_005831,NM_001261393,NM_001261395,NM_001261391 CALCOCO2,CALCOCO2,CALCOCO2,CALCOCO2,CALCOCO2 EXON Missense_V272A,Missense_V248A,Missense_V206A,Missense_V176A,Missense_V269A exm1333948 17 46929982 [A/G] NM_001261390,NM_005831,NM_001261393,NM_001261395,NM_001261391 CALCOCO2,CALCOCO2,CALCOCO2,CALCOCO2,CALCOCO2 EXON Missense_T297A,Missense_T273A,Missense_T231A,Missense_T201A,Missense_T294A exm1333967 17 46939658 [C/G] NM_001261390,NM_005831,NM_001261393,NM_001261395,NM_001261391 CALCOCO2,CALCOCO2,CALCOCO2,CALCOCO2,CALCOCO2 EXON Missense_P413A,Missense_P389A,Missense_P347A,Missense_P317A,Missense_P410A exm2268047 17 46988529 [A/G] NM_023079 UBE2Z Silent exm-rs46522 17 46988597 [T/C] NM_023079 UBE2Z Silent exm-rs15563 17 47005193 [A/G] NM_023079 UBE2Z EXON Silent exm1334030 17 47007872 [T/C] NM_007241 SNF8 EXON Missense_I248V exm1334053 17 47014427 [T/C] NM_007241 SNF8 EXON Missense_V102I exm1334066 17 47036073 [T/C] NM_004123 GIP EXON Missense_R153Q exm1334071 17 47038257 [T/C] NM_004123 GIP EXON Missense_C148Y exm1334072 17 47038263 [T/C] NM_004123 GIP EXON Missense_N146S exm1334081 17 47039132 [T/C] NM_004123 GIP EXON Missense_S103G exm1334094 17 47041826 [T/G] NM_004123 GIP EXON Missense_P35T exm-rs3895874 17 47047868 [A/G] exm1334102 17 47075135 [A/G] NM_001160423,NM_006546 IGF2BP1,IGF2BP1 EXON Missense_N10D,Missense_N10D exm-rs9674544 17 47084711 [A/G] NM_001160423,NM_006546 IGF2BP1,IGF2BP1 Silent,Silent exm1334134 17 47117430 [T/A] NM_001160423,NM_006546 IGF2BP1,IGF2BP1 EXON Silent,Missense_H265Q exm1334136 17 47118852 [A/G] NM_001160423,NM_006546 IGF2BP1,IGF2BP1 EXON Missense_T172A,Missense_T311A exm1334145 17 47120880 [A/G] NM_001160423,NM_006546 IGF2BP1,IGF2BP1 EXON Missense_V251I,Missense_V390I exm1334159 17 47210469 [A/G] NM_001159388,NM_001159387,NM_153446 B4GALNT2,B4GALNT2,B4GALNT2 EXON Silent,Silent,Missense_E28K exm1334162 17 47210506 [A/C] NM_001159388,NM_001159387,NM_153446 B4GALNT2,B4GALNT2,B4GALNT2 EXON Silent,Silent,Missense_A40D exm1334165 17 47210552 [T/G] NM_001159388,NM_001159387,NM_153446 B4GALNT2,B4GALNT2,B4GALNT2 EXON Silent,Silent,Missense_F55L exm1334173 17 47218665 [T/C] NM_001159388,NM_001159387,NM_153446 B4GALNT2,B4GALNT2,B4GALNT2 EXON Silent,Missense_V24A,Missense_V84A exm1334176 17 47218737 [T/C] NM_001159388,NM_001159387,NM_153446 B4GALNT2,B4GALNT2,B4GALNT2 EXON Missense_A22V,Missense_A48V,Missense_A108V exm2274955 17 47218799 [A/G] NM_001159388,NM_001159387,NM_153446 B4GALNT2,B4GALNT2,B4GALNT2 EXON Missense_D43N,Missense_D69N,Missense_D129N exm1334190 17 47219531 [A/G] NM_001159388,NM_001159387,NM_153446 B4GALNT2,B4GALNT2,B4GALNT2 EXON Missense_R91K,Missense_R117K,Missense_R177K exm1334204 17 47233954 [C/G] NM_001159388,NM_001159387,NM_153446 B4GALNT2,B4GALNT2,B4GALNT2 EXON Missense_P137A,Missense_P163A,Missense_P223A exm1334222 17 47241514 [A/G] NM_001159388,NM_001159387,NM_153446 B4GALNT2,B4GALNT2,B4GALNT2 EXON Missense_M251I,Missense_M277I,Missense_M337I exm1891168 17 47241533 [T/C] NM_001159388,NM_001159387,NM_153446 B4GALNT2,B4GALNT2,B4GALNT2 EXON Nonsense_R258X,Nonsense_R284X,Nonsense_R344X exm1334228 17 47241625 [A/G] NM_001159388,NM_001159387,NM_153446 B4GALNT2,B4GALNT2,B4GALNT2 EXON Missense_M288I,Missense_M314I,Missense_M374I exm1334232 17 47243608 [C/G] NM_001159388,NM_001159387,NM_153446 B4GALNT2,B4GALNT2,B4GALNT2 EXON Missense_L337V,Missense_L363V,Missense_L423V exm1334236 17 47246074 [A/G] NM_001159388,NM_001159387,NM_153446 B4GALNT2,B4GALNT2,B4GALNT2 EXON Missense_Q350R,Missense_Q376R,Missense_Q436R exm1334238 17 47246163 [T/C] NM_001159388,NM_001159387,NM_153446 B4GALNT2,B4GALNT2,B4GALNT2 EXON Missense_C380R,Missense_C406R,Missense_C466R exm1891177 17 47246212 [A/G] NM_001159388,NM_001159387,NM_153446 B4GALNT2,B4GALNT2,B4GALNT2 EXON Missense_R396Q,Missense_R422Q,Missense_R482Q exm1334242 17 47246239 [A/G] NM_001159388,NM_001159387,NM_153446 B4GALNT2,B4GALNT2,B4GALNT2 EXON Missense_R405H,Missense_R431H,Missense_R491H exm1334244 17 47246247 [T/C] NM_001159388,NM_001159387,NM_153446 B4GALNT2,B4GALNT2,B4GALNT2 EXON Nonsense_R408X,Nonsense_R434X,Nonsense_R494X exm1334246 17 47246894 [T/C] NM_001159388,NM_001159387,NM_153446 B4GALNT2,B4GALNT2,B4GALNT2 EXON Missense_I416T,Missense_I442T,Missense_I502T exm1334248 17 47246956 [T/C] NM_001159388,NM_001159387,NM_153446 B4GALNT2,B4GALNT2,B4GALNT2 EXON Missense_R437W,Missense_R463W,Missense_R523W exm1334254 17 47247013 [T/C] NM_001159388,NM_001159387,NM_153446 B4GALNT2,B4GALNT2,B4GALNT2 EXON Missense_R456W,Missense_R482W,Missense_R542W exm1334255 17 47247014 [A/G] NM_001159388,NM_001159387,NM_153446 B4GALNT2,B4GALNT2,B4GALNT2 EXON Missense_R456Q,Missense_R482Q,Missense_R542Q exm1334260 17 47247085 [A/G] NM_001159388,NM_001159387,NM_153446 B4GALNT2,B4GALNT2,B4GALNT2 EXON Missense_A480T,Missense_A506T,Missense_A566T exm1334261 17 47247086 [T/C] NM_001159388,NM_001159387,NM_153446 B4GALNT2,B4GALNT2,B4GALNT2 EXON Missense_A480V,Missense_A506V,Missense_A566V exm1334267 17 47284701 [T/C] NM_001198755,NM_001198756,NM_001198754,NM_031498 GNGT2,GNGT2,GNGT2,GNGT2 EXON Synonymous_P28P,Synonymous_P28P,Synonymous_P28P,Synonymous_P28P exm1334269 17 47284735 [T/C] NM_001198755,NM_001198756,NM_001198754,NM_031498 GNGT2,GNGT2,GNGT2,GNGT2 EXON Missense_Q17R,Missense_Q17R,Missense_Q17R,Missense_Q17R exm1334272 17 47284752 [A/C] NM_001198755,NM_001198756,NM_001198754,NM_031498 GNGT2,GNGT2,GNGT2,GNGT2 EXON Missense_L11F,Missense_L11F,Missense_L11F,Missense_L11F exm1334282 17 47293906 [A/G] NM_016428,NM_001135186 ABI3,ABI3 EXON Missense_R44Q,Missense_R44Q exm1334289 17 47294000 [A/G] NM_016428,NM_001135186 ABI3,ABI3 EXON Missense_M75I,Missense_M75I exm1334299 17 47295162 [A/G] NM_016428,NM_001135186 ABI3,ABI3 EXON Missense_Q116R,Missense_Q110R exm1334300 17 47295165 [A/G] NM_016428,NM_001135186 ABI3,ABI3 EXON Missense_R117Q,Missense_R111Q exm1334317 17 47297297 [T/C] NM_016428,NM_001135186 ABI3,ABI3 EXON Missense_F209S,Missense_F203S exm1334320 17 47297547 [A/G] NM_016428,NM_001135186 ABI3,ABI3 EXON Missense_G221S,Missense_G215S exm1334325 17 47299454 [T/C] NM_016428,NM_001135186 ABI3,ABI3 EXON Synonymous_D268D,Synonymous_D262D exm1334332 17 47299501 [T/A] NM_016428,NM_001135186 ABI3,ABI3 EXON Missense_D284V,Missense_D278V exm1334337 17 47299919 [A/G] NM_016428,NM_001135186 ABI3,ABI3 EXON Missense_T315A,Missense_T309A exm1334340 17 47299992 [A/G] NM_016428,NM_001135186 ABI3,ABI3 EXON Missense_R339H,Missense_R333H exm1334357 17 47302083 [T/G] NM_178500,NM_001143804 PHOSPHO1,PHOSPHO1 EXON Missense_A110E,Missense_A135E exm1334359 17 47302101 [T/G] NM_178500,NM_001143804 PHOSPHO1,PHOSPHO1 EXON Missense_D104A,Missense_D129A exm2268008 17 47318414 [A/G] exm-rs2072153 17 47390014 [G/C] NM_014897,NM_001145365 ZNF652,ZNF652 Silent,Silent exm1334421 17 47394490 [T/C] NM_014897,NM_001145365 ZNF652,ZNF652 EXON Missense_A200T,Missense_A200T exm1334424 17 47394529 [T/C] NM_014897,NM_001145365 ZNF652,ZNF652 EXON Missense_V187I,Missense_V187I exm1334425 17 47394543 [A/G] NM_014897,NM_001145365 ZNF652,ZNF652 EXON Missense_V182A,Missense_V182A exm1334432 17 47394798 [T/C] NM_014897,NM_001145365 ZNF652,ZNF652 EXON Missense_R97Q,Missense_R97Q exm1334434 17 47394825 [G/C] NM_014897,NM_001145365 ZNF652,ZNF652 EXON Missense_S88C,Missense_S88C exm1891243 17 47394943 [T/G] NM_014897,NM_001145365 ZNF652,ZNF652 EXON Missense_K49Q,Missense_K49Q exm1891245 17 47395003 [A/G] NM_014897,NM_001145365 ZNF652,ZNF652 EXON Missense_R29C,Missense_R29C exm-rs7210100 17 47436749 [A/G] NM_014897,NM_001145365 ZNF652,ZNF652 Silent,Silent exm-rs16948048 17 47440466 [A/G] exm-rs2197159 17 47477635 [T/C] exm-rs1035050 17 47564012 [T/C] exm1891268 17 47579431 [T/C] NM_002507 NGFR EXON Missense_L25F exm1891270 17 47583681 [A/G] NM_002507 NGFR EXON Missense_V77M exm1334492 17 47583847 [T/C] NM_002507 NGFR EXON Missense_S132L exm1334503 17 47587809 [T/C] NM_002507 NGFR EXON Missense_P202S exm1334504 17 47587819 [T/C] NM_002507 NGFR EXON Missense_S205L exm1891277 17 47587995 [T/G] NM_002507 NGFR EXON Missense_V264L exm1334510 17 47589294 [T/C] NM_002507 NGFR EXON Missense_R288W exm1334514 17 47589334 [T/C] NM_002507 NGFR EXON Missense_L301P exm1334523 17 47590238 [A/G] NM_002507 NGFR EXON Missense_R384H exm1334538 17 47656000 [T/C] NM_007225 NXPH3 EXON Missense_P33S exm1334541 17 47656030 [C/G] NM_007225 NXPH3 EXON Missense_R43G exm1334549 17 47656159 [T/C] NM_007225 NXPH3 EXON Missense_P86S exm1334556 17 47656271 [T/C] NM_007225 NXPH3 EXON Missense_V123A exm1334560 17 47656460 [A/G] NM_007225 NXPH3 EXON Missense_R186H exm1334563 17 47656520 [A/G] NM_007225 NXPH3 EXON Missense_S206N exm2253057 17 47656587 [A/G] NM_007225 NXPH3 EXON Synonymous_T228T exm1891314 17 47780295 [T/C] NM_005827 SLC35B1 EXON Missense_I281V exm1334607 17 47780597 [T/C] NM_005827 SLC35B1 EXON Missense_I239V exm1334630 17 47782626 [T/A] NM_005827 SLC35B1 EXON Missense_T130S exm1334638 17 47783633 [C/G] NM_005827 SLC35B1 EXON Missense_S91C exm1334646 17 47784374 [G/C] NM_005827 SLC35B1 EXON Missense_T54S exm1334653 17 47785158 [C/G] NM_005827 SLC35B1 EXON Missense_R13P exm1334669 17 47788783 [T/C] NM_030802 FAM117A EXON Missense_R399H exm1334670 17 47788784 [A/G] NM_030802 FAM117A EXON Missense_R399C exm1334680 17 47793645 [T/C] NM_030802 FAM117A EXON Missense_D315N exm1334694 17 47797692 [A/G] NM_030802 FAM117A EXON Missense_L190P exm1334697 17 47797758 [T/C] NM_030802 FAM117A EXON Missense_S168N exm1334700 17 47799922 [C/G] NM_030802 FAM117A EXON Missense_R134P exm1334723 17 47869369 [T/C] NM_001199155,NM_001199157,NM_001199156,NM_001199158,NM_007067 KAT7,KAT7,KAT7,KAT7,KAT7 EXON Missense_S46L,Missense_S46L,Missense_S46L,Missense_S46L,Missense_S46L exm1334728 17 47875809 [A/G] NM_001199155,NM_001199157,NM_001199156,NM_001199158,NM_007067 KAT7,KAT7,KAT7,KAT7,KAT7 EXON Missense_M157V,Silent,Silent,Silent,Missense_M157V exm1334741 17 47888845 [T/C] NM_001199155,NM_001199157,NM_001199156,NM_001199158,NM_007067 KAT7,KAT7,KAT7,KAT7,KAT7 EXON Missense_T224M,Missense_T144M,Missense_T115M,Missense_T85M,Missense_T254M exm1334747 17 47895248 [T/C] NM_001199155,NM_001199157,NM_001199156,NM_001199158,NM_007067 KAT7,KAT7,KAT7,KAT7,KAT7 EXON Missense_R314C,Missense_R234C,Missense_R205C,Missense_R175C,Missense_R344C exm1334750 17 47895354 [T/C] NM_001199155,NM_001199157,NM_001199156,NM_001199158,NM_007067 KAT7,KAT7,KAT7,KAT7,KAT7 EXON Missense_T349M,Missense_T269M,Missense_T240M,Missense_T210M,Missense_T379M exm1891407 17 47904783 [A/G] NM_001199155,NM_001199157,NM_001199156,NM_001199158,NM_007067 KAT7,KAT7,KAT7,KAT7,KAT7 EXON Missense_I555M,Missense_I475M,Missense_I446M,Missense_I416M,Missense_I585M exm1334762 17 47916006 [A/C] NM_170685,NM_001077506,NM_001077504,NM_001077505,NM_001077503 TAC4,TAC4,TAC4,TAC4,TAC4 EXON Missense_X114E,Missense_X108E,Missense_X88E,Missense_X77E,Missense_X97E exm1334770 17 47921434 [T/C] NM_170685,NM_001077506,NM_001077504,NM_001077505,NM_001077503 TAC4,TAC4,TAC4,TAC4,TAC4 EXON Missense_R70Q,Missense_R64Q,Missense_R64Q,Missense_R64Q,Missense_R64Q exm2260666 17 47943461 [A/C] exm1334786 17 48046960 [G/C] NM_138281 DLX4 EXON Missense_P43R exm1334787 17 48046963 [A/G] NM_138281 DLX4 EXON Missense_N44S exm1334796 17 48047109 [G/C] NM_138281 DLX4 EXON Missense_E93Q exm1334797 17 48047114 [A/G] NM_138281 DLX4 EXON Synonymous_A94A exm1334801 17 48050557 [G/C] NM_138281,NM_001934 DLX4,DLX4 EXON Missense_R135P,Missense_R63P exm1334812 17 48051180 [T/C] NM_138281,NM_001934 DLX4,DLX4 EXON Missense_P199L,Missense_P127L exm1334818 17 48068892 [T/C] NM_005220 DLX3 EXON Missense_A285T exm1334819 17 48068913 [T/C] NM_005220 DLX3 EXON Missense_G278R exm1334825 17 48069035 [T/C] NM_005220 DLX3 EXON Missense_Y237C exm1334828 17 48069062 [T/C] NM_005220 DLX3 EXON Missense_R228H exm1334856 17 48072281 [A/C] NM_005220 DLX3 EXON Missense_D28Y exm1334865 17 48141461 [A/G] NM_005501,NM_002204 ITGA3,ITGA3 EXON Missense_R76Q,Missense_R76Q exm1334901 17 48148852 [T/C] NM_005501,NM_002204 ITGA3,ITGA3 EXON Missense_A310V,Missense_A310V exm1334905 17 48149445 [A/C] NM_005501,NM_002204 ITGA3,ITGA3 EXON Missense_S352Y,Missense_S352Y exm1334906 17 48149503 [A/T] NM_005501,NM_002204 ITGA3,ITGA3 EXON Missense_L371F,Missense_L371F exm1334918 17 48151817 [A/G] NM_005501,NM_002204 ITGA3,ITGA3 EXON Missense_R463Q,Missense_R463Q exm1334922 17 48151849 [A/G] NM_005501,NM_002204 ITGA3,ITGA3 EXON Missense_V474M,Missense_V474M exm1334956 17 48154403 [T/C] NM_005501,NM_002204 ITGA3,ITGA3 EXON Missense_S663L,Missense_S663L exm1334968 17 48155425 [A/G] NM_005501,NM_002204 ITGA3,ITGA3 EXON Missense_A719T,Missense_A719T exm1334972 17 48155470 [A/G] NM_005501,NM_002204 ITGA3,ITGA3 EXON Missense_V734M,Missense_V734M exm2226660 17 48156253 [T/C] NM_005501,NM_002204 ITGA3,ITGA3 EXON Missense_V788A,Missense_V788A exm1334986 17 48156540 [T/C] NM_005501,NM_002204 ITGA3,ITGA3 EXON Missense_T834M,Missense_T834M exm2226661 17 48156557 [A/G] NM_005501,NM_002204 ITGA3,ITGA3 EXON Missense_G840S,Missense_G840S exm1334995 17 48156830 [A/G] NM_005501,NM_002204 ITGA3,ITGA3 EXON Missense_R872H,Missense_R872H exm1334998 17 48156838 [T/C] NM_005501,NM_002204 ITGA3,ITGA3 EXON Nonsense_R875X,Nonsense_R875X exm1335011 17 48158680 [A/G] NM_005501,NM_002204 ITGA3,ITGA3 EXON Missense_R943G,Missense_R943G exm2274956 17 48158753 [T/C] NM_005501,NM_002204 ITGA3,ITGA3 EXON Missense_M967T,Missense_M967T exm1335019 17 48165148 [C/G] NM_005501,NM_002204 ITGA3,ITGA3 EXON Missense_P987R,Missense_P987R exm1335029 17 48166475 [A/G] NM_005501,NM_002204 ITGA3,ITGA3 EXON Missense_C1016Y,Silent exm1335032 17 48166490 [A/G] NM_005501,NM_002204 ITGA3,ITGA3 EXON Missense_R1021Q,Silent exm1335037 17 48166538 [A/G] NM_005501,NM_002204 ITGA3,ITGA3 EXON Missense_R1037Q,Silent exm1891663 17 48174864 [A/G] NM_001199898,NM_001199900,NM_002611,NM_001199899 PDK2,PDK2,PDK2,PDK2 EXON Missense_K2E,Missense_K66E,Missense_K66E,Missense_K2E exm2226664 17 48182791 [A/G] NM_001199898,NM_001199900,NM_002611,NM_001199899 PDK2,PDK2,PDK2,PDK2 EXON Missense_H42R,Missense_H106R,Missense_H106R,Missense_H42R exm1335056 17 48182794 [A/G] NM_001199898,NM_001199900,NM_002611,NM_001199899 PDK2,PDK2,PDK2,PDK2 EXON Missense_R43H,Missense_R107H,Missense_R107H,Missense_R43H exm1335059 17 48183343 [A/G] NM_001199898,NM_001199900,NM_002611,NM_001199899 PDK2,PDK2,PDK2,PDK2 EXON Missense_D79N,Missense_D143N,Missense_D143N,Missense_D79N exm2274957 17 48183455 [A/G] NM_001199898,NM_001199900,NM_002611,NM_001199899 PDK2,PDK2,PDK2,PDK2 EXON Silent,Missense_R180Q,Silent,Silent exm1335071 17 48184448 [A/G] NM_001199898,NM_002611,NM_001199899 PDK2,PDK2,PDK2 EXON Missense_D142N,Missense_D206N,Missense_D142N exm1335075 17 48185722 [T/C] NM_001199898,NM_002611,NM_001199899 PDK2,PDK2,PDK2 EXON Missense_L204F,Missense_L268F,Missense_L204F exm1335079 17 48185986 [A/G] NM_001199898,NM_002611,NM_001199899 PDK2,PDK2,PDK2 EXON Missense_R227Q,Missense_R291Q,Missense_R227Q exm1335090 17 48186757 [A/C] NM_001199898,NM_002611,NM_001199899 PDK2,PDK2,PDK2 EXON Missense_Y295S,Missense_Y359S,Missense_Y295S exm2226666 17 48191337 [T/C] NM_001257359,NM_174920 SAMD14,SAMD14 EXON Missense_R350Q,Missense_R378Q exm1335111 17 48191421 [C/G] NM_001257359,NM_174920 SAMD14,SAMD14 EXON Missense_P322R,Missense_P350R exm1335112 17 48191573 [A/G] NM_001257359,NM_174920 SAMD14,SAMD14 EXON Missense_T307M,Missense_T335M exm1335115 17 48191726 [G/C] NM_001257359,NM_174920 SAMD14,SAMD14 EXON Silent,Missense_G301R exm2253059 17 48193018 [A/G] NM_001257359,NM_174920 SAMD14,SAMD14 EXON Synonymous_S244S,Synonymous_S244S exm1335129 17 48193049 [A/G] NM_001257359,NM_174920 SAMD14,SAMD14 EXON Missense_P234L,Missense_P234L exm1335135 17 48193233 [T/C] NM_001257359,NM_174920 SAMD14,SAMD14 EXON Missense_R208Q,Missense_R208Q exm1335139 17 48193386 [C/G] NM_001257359,NM_174920 SAMD14,SAMD14 EXON Missense_R190G,Missense_R190G exm1335155 17 48195610 [T/C] NM_001257359,NM_174920 SAMD14,SAMD14 EXON Missense_R42Q,Missense_R42Q exm1335162 17 48202298 [G/C] NM_001257359,NM_174920 SAMD14,SAMD14 EXON Missense_P9R,Missense_P9R exm1335179 17 48216860 [T/C] NM_032595 PPP1R9B EXON Missense_R650Q exm1335180 17 48216896 [T/C] NM_032595 PPP1R9B EXON Missense_R638Q exm1335185 17 48216944 [T/C] NM_032595 PPP1R9B EXON Missense_R622Q exm1335191 17 48217569 [T/C] NM_032595 PPP1R9B EXON Missense_R584Q exm1335192 17 48218669 [T/C] NM_032595 PPP1R9B EXON Missense_R564Q exm1335193 17 48218672 [A/G] NM_032595 PPP1R9B EXON Missense_S563L exm1335194 17 48218720 [T/G] NM_032595 PPP1R9B EXON Missense_S547Y exm1335196 17 48220993 [A/G] NM_032595 PPP1R9B EXON Missense_R531W exm1335198 17 48220998 [A/G] NM_032595 PPP1R9B EXON Missense_P529L exm1335200 17 48221079 [A/G] NM_032595 PPP1R9B EXON Missense_P502L exm1335208 17 48226547 [A/G] NM_032595 PPP1R9B EXON Missense_P443L exm1335220 17 48226742 [T/C] NM_032595 PPP1R9B EXON Missense_X378W exm1335233 17 48226947 [C/G] NM_032595 PPP1R9B EXON Missense_P310A exm1335294 17 48244753 [T/C] NM_001135697,NM_000023 SGCA,SGCA EXON Missense_T21I,Missense_T21I exm1335302 17 48245014 [T/C] NM_001135697,NM_000023 SGCA,SGCA EXON Missense_R77C,Missense_R77C exm1335308 17 48245315 [T/C] NM_001135697,NM_000023 SGCA,SGCA EXON Missense_A107V,Missense_A107V exm1335309 17 48245323 [T/C] NM_001135697,NM_000023 SGCA,SGCA EXON Missense_R110W,Missense_R110W exm1335310 17 48245324 [A/G] NM_001135697,NM_000023 SGCA,SGCA EXON Missense_R110Q,Missense_R110Q exm1335311 17 48245344 [T/C] NM_001135697,NM_000023 SGCA,SGCA EXON Missense_R117W,Missense_R117W exm1335326 17 48245924 [A/G] NM_001135697,NM_000023 SGCA,SGCA EXON Missense_R192Q,Missense_R192Q exm1335330 17 48246530 [A/G] NM_001135697,NM_000023 SGCA,SGCA EXON Silent,Missense_R221H exm1335334 17 48246607 [A/G] NM_001135697,NM_000023 SGCA,SGCA EXON Silent,Missense_V247M exm1335335 17 48247520 [T/C] NM_001135697,NM_000023 SGCA,SGCA EXON Silent,Missense_P255L exm1335372 17 48262886 [T/C] NM_000088 COL1A1 EXON Missense_V1458I exm1335385 17 48263206 [T/C] NM_000088 COL1A1 EXON Missense_N1394S exm2226669 17 48263326 [A/C] NM_000088 COL1A1 EXON Missense_F1354C exm1335395 17 48263369 [T/C] NM_000088 COL1A1 EXON Missense_G1340S exm1335417 17 48264082 [A/T] NM_000088 COL1A1 EXON Missense_I1245F exm1335450 17 48265495 [T/C] NM_000088 COL1A1 EXON Missense_T1075A exm1335472 17 48266365 [T/G] NM_000088 COL1A1 EXON Missense_P982T exm1335474 17 48266534 [A/G] NM_000088 COL1A1 EXON Missense_P978S exm1335480 17 48266851 [T/C] NM_000088 COL1A1 EXON Missense_G906S exm1335493 17 48267454 [G/C] NM_000088 COL1A1 EXON Missense_P823A exm1335497 17 48267725 [A/G] NM_000088 COL1A1 EXON Missense_P805L exm1335533 17 48270048 [T/C] NM_000088 COL1A1 EXON Missense_A628T exm1335539 17 48270160 [T/C] NM_000088 COL1A1 EXON Missense_A625T exm1335543 17 48270355 [A/G] NM_000088 COL1A1 EXON Synonymous_V607V exm2253061 17 48270364 [A/G] NM_000088 COL1A1 EXON Synonymous_P604P exm1335552 17 48271380 [T/C] NM_000088 COL1A1 EXON Missense_R564H exm1335562 17 48271741 [T/C] NM_000088 COL1A1 EXON Missense_R528H exm1335584 17 48272827 [T/C] NM_000088 COL1A1 EXON Missense_A390T exm1335587 17 48273298 [T/C] NM_000088 COL1A1 EXON Missense_A348T exm1335611 17 48274551 [A/G] NM_000088 COL1A1 EXON Missense_P247L exm1335620 17 48275339 [C/G] NM_000088 COL1A1 EXON Missense_P205A exm1335654 17 48278798 [T/C] NM_000088 COL1A1 EXON Missense_G26D exm2272526 17 48335925 [T/C] exm1335661 17 48351872 [A/G] NM_001168215,NM_153229 TMEM92,TMEM92 EXON Missense_A4T,Missense_A4T exm1335705 17 48431021 [A/G] NM_022167 XYLT2 EXON Missense_D56N exm1335717 17 48431214 [A/G] NM_022167 XYLT2 EXON Missense_R120H exm1335723 17 48431348 [A/G] NM_022167 XYLT2 EXON Missense_V165M exm1335735 17 48431838 [A/G] NM_022167 XYLT2 EXON Missense_R233Q exm1335739 17 48432221 [A/G] NM_022167 XYLT2 EXON Missense_D271N exm1335744 17 48432324 [C/G] NM_022167 XYLT2 EXON Missense_R305T exm1335762 17 48433306 [T/C] NM_022167 XYLT2 EXON Missense_P418L exm1335763 17 48433324 [A/G] NM_022167 XYLT2 EXON Missense_R424H exm1335784 17 48434008 [T/C] NM_022167 XYLT2 EXON Missense_T540I exm1335788 17 48434097 [A/G] NM_022167 XYLT2 EXON Missense_A570T exm1335795 17 48434513 [T/C] NM_022167 XYLT2 EXON Missense_A614V exm1335796 17 48434517 [C/G] NM_022167 XYLT2 EXON Missense_Q615H exm1891975 17 48435649 [A/G] NM_022167 XYLT2 EXON Missense_V675M exm1335813 17 48435674 [A/G] NM_022167 XYLT2 EXON Missense_N683S exm1335816 17 48435742 [G/C] NM_022167 XYLT2 EXON Missense_D706H exm1891983 17 48437366 [A/G] NM_022167 XYLT2 EXON Missense_N771S exm1335832 17 48437456 [G/C] NM_022167 XYLT2 EXON Missense_T801R exm1335838 17 48437581 [A/G] NM_022167 XYLT2 EXON Missense_S843G exm1335845 17 48445493 [A/G] NM_016504 MRPL27 EXON Missense_A136V exm1335846 17 48445503 [T/C] NM_016504 MRPL27 EXON Missense_V133M exm1335851 17 48445601 [A/G] NM_016504 MRPL27 EXON Missense_T100I exm1335859 17 48447422 [A/G] NM_016504 MRPL27 EXON Missense_R71C exm1335867 17 48447918 [T/C] NM_016504 MRPL27 EXON Missense_T24A exm1335888 17 48452584 [T/G] NM_152463,NM_001166131 EME1,EME1 EXON Missense_K5N,Missense_K5N exm1335889 17 48452607 [G/C] NM_152463,NM_001166131 EME1,EME1 EXON Missense_G13A,Missense_G13A exm1335890 17 48452634 [T/C] NM_152463,NM_001166131 EME1,EME1 EXON Missense_T22I,Missense_T22I exm1335891 17 48452679 [A/G] NM_152463,NM_001166131 EME1,EME1 EXON Missense_Q37R,Missense_Q37R exm1335893 17 48452714 [A/G] NM_152463,NM_001166131 EME1,EME1 EXON Missense_I49V,Missense_I49V exm1335895 17 48452756 [T/C] NM_152463,NM_001166131 EME1,EME1 EXON Missense_F63L,Missense_F63L exm1335897 17 48452766 [T/C] NM_152463,NM_001166131 EME1,EME1 EXON Missense_P66L,Missense_P66L exm1335898 17 48452776 [A/C] NM_152463,NM_001166131 EME1,EME1 EXON Missense_E69D,Missense_E69D exm1335900 17 48452826 [A/G] NM_152463,NM_001166131 EME1,EME1 EXON Missense_E86G,Missense_E86G exm1335901 17 48452909 [A/G] NM_152463,NM_001166131 EME1,EME1 EXON Missense_D114N,Missense_D114N exm1335913 17 48453136 [A/T] NM_152463,NM_001166131 EME1,EME1 EXON Missense_N189K,Missense_N189K exm1335919 17 48453219 [A/G] NM_152463,NM_001166131 EME1,EME1 EXON Missense_R217K,Missense_R217K exm1335926 17 48453303 [A/C] NM_152463,NM_001166131 EME1,EME1 EXON Missense_P245Q,Missense_P245Q exm1335927 17 48453429 [T/C] NM_152463,NM_001166131 EME1,EME1 EXON Missense_L260F,Missense_L260F exm1335932 17 48453502 [T/C] NM_152463,NM_001166131 EME1,EME1 EXON Missense_A284V,Missense_A284V exm1335938 17 48456002 [A/G] NM_152463,NM_001166131 EME1,EME1 EXON Missense_R317Q,Missense_R317Q exm1892024 17 48456028 [A/G] NM_152463,NM_001166131 EME1,EME1 EXON Missense_D326N,Missense_D326N exm1335941 17 48456183 [A/G] NM_152463,NM_001166131 EME1,EME1 EXON Missense_V347I,Missense_V347I exm1335942 17 48456193 [T/C] NM_152463,NM_001166131 EME1,EME1 EXON Missense_I350T,Missense_I350T exm1335950 17 48456520 [A/C] NM_152463,NM_001166131 EME1,EME1 EXON Missense_K389Q,Missense_K402Q exm1335955 17 48456885 [T/C] NM_152463,NM_001166131 EME1,EME1 EXON Missense_F435L,Missense_F448L exm1335961 17 48457671 [A/G] NM_152463,NM_001166131 EME1,EME1 Silent,Silent exm1335970 17 48457819 [A/G] NM_152463,NM_001166131 EME1,EME1 EXON Missense_S498N,Missense_S511N exm1335979 17 48458184 [T/C] NM_152463,NM_001166131 EME1,EME1 EXON Missense_R533C,Missense_R546C exm1335980 17 48458185 [A/G] NM_152463,NM_001166131 EME1,EME1 EXON Missense_R533H,Missense_R546H exm1335982 17 48458214 [T/C] NM_152463,NM_001166131 EME1,EME1 EXON Missense_R543C,Missense_R556C exm1335985 17 48458241 [T/C] NM_152463,NM_001166131 EME1,EME1 EXON Missense_R552C,Missense_R565C exm1335989 17 48460399 [A/G] NM_018509 LRRC59 EXON Missense_R292C exm1335991 17 48460413 [A/G] NM_018509 LRRC59 EXON Missense_A287V exm1336000 17 48462533 [G/C] NM_018509 LRRC59 EXON Missense_A208P exm1336005 17 48465441 [T/C] NM_018509 LRRC59 EXON Missense_R161Q exm1336006 17 48465442 [A/G] NM_018509 LRRC59 EXON Missense_R161W exm1336008 17 48465454 [A/G] NM_018509 LRRC59 EXON Missense_R157W exm1336011 17 48469775 [T/C] NM_018509 LRRC59 EXON Missense_K138R exm1336013 17 48469863 [A/T] NM_018509 LRRC59 EXON Missense_N109Y exm1336036 17 48503723 [T/C] NM_025149 ACSF2 EXON Missense_A34V exm1336038 17 48538036 [A/G] NM_025149 ACSF2 Silent exm1336039 17 48538067 [T/C] NM_025149 ACSF2 EXON Missense_T53M exm1336047 17 48538186 [A/G] NM_025149 ACSF2 EXON Missense_V93I exm1336054 17 48538712 [T/C] NM_025149 ACSF2 EXON Missense_A145V exm1336056 17 48539021 [A/G] NM_025149 ACSF2 EXON Missense_M161V exm1336066 17 48539855 [T/C] NM_025149 ACSF2 EXON Missense_A234V exm1336071 17 48539903 [A/C] NM_025149 ACSF2 EXON Missense_Q250P exm1336082 17 48540868 [A/C] NM_025149 ACSF2 EXON Missense_P334H exm1336086 17 48541236 [A/C] NM_025149 ACSF2 EXON Missense_D368E exm1336091 17 48542690 [A/G] NM_025149,NM_001267 ACSF2,CHAD EXON Silent,Missense_T350I exm1336093 17 48542708 [T/C] NM_025149,NM_001267 ACSF2,CHAD EXON Silent,Missense_R344H exm1336095 17 48542714 [T/G] NM_025149,NM_001267 ACSF2,CHAD EXON Silent,Missense_A342D exm1336099 17 48542777 [A/C] NM_025149,NM_001267 ACSF2,CHAD EXON Silent,Missense_R321L exm2277121 17 48542777 [T/C] NM_025149,NM_001267 ACSF2,CHAD EXON Silent,Missense_R321H exm1336109 17 48543170 [T/C] NM_025149,NM_001267 ACSF2,CHAD EXON Silent,Missense_R279H exm1336121 17 48545604 [C/G] NM_025149,NM_001267 ACSF2,CHAD EXON Silent,Missense_L191V exm1336122 17 48545610 [G/C] NM_025149,NM_001267 ACSF2,CHAD EXON Silent,Missense_G189R exm1336136 17 48546032 [T/C] NM_025149,NM_001267 ACSF2,CHAD EXON Silent,Missense_K48R exm1336143 17 48546102 [T/G] NM_025149,NM_001267 ACSF2,CHAD EXON Silent,Missense_Q25K exm1336148 17 48548419 [A/G] NM_025149 ACSF2 EXON Missense_V416M exm1336157 17 48549807 [A/G] NM_025149 ACSF2 EXON Missense_E448K exm1336166 17 48551066 [A/G] NM_025149 ACSF2 EXON Missense_V506M exm1336189 17 48557326 [A/G] NM_018346 RSAD1 EXON Missense_A119T exm1336191 17 48557348 [T/C] NM_018346 RSAD1 EXON Missense_L126S exm1336195 17 48557436 [A/G] NM_018346 RSAD1 EXON Missense_I155M exm1336198 17 48559474 [A/G] NM_018346 RSAD1 EXON Missense_R166Q exm1336199 17 48559489 [T/C] NM_018346 RSAD1 EXON Missense_T171M exm1336211 17 48559671 [T/C] NM_018346 RSAD1 EXON Missense_R232W exm1336213 17 48559722 [C/G] NM_018346 RSAD1 EXON Missense_D249H exm1336216 17 48559747 [A/C] NM_018346 RSAD1 EXON Missense_Y257S exm1336223 17 48560058 [A/G] NM_018346 RSAD1 EXON Missense_V299I exm1336225 17 48560745 [T/C] NM_018346 RSAD1 EXON Missense_R317W exm1336229 17 48560817 [T/C] NM_018346 RSAD1 EXON Missense_R341W exm1336233 17 48561074 [G/C] NM_018346 RSAD1 EXON Missense_E354Q exm1336236 17 48561095 [T/C] NM_018346 RSAD1 EXON Missense_R361C exm1336263 17 48594690 [T/C] NM_032133 MYCBPAP EXON Missense_R124C exm1336264 17 48594691 [A/G] NM_032133 MYCBPAP EXON Missense_R124H exm1336268 17 48594718 [A/G] NM_032133 MYCBPAP EXON Missense_R133H exm1336270 17 48594775 [T/C] NM_032133 MYCBPAP EXON Missense_A152V exm1336273 17 48594784 [T/A] NM_032133 MYCBPAP EXON Missense_D155V exm1336274 17 48594813 [A/G] NM_032133 MYCBPAP EXON Missense_G165S exm1336278 17 48594973 [A/G] NM_032133 MYCBPAP EXON Missense_D171N exm1336279 17 48594980 [A/G] NM_032133 MYCBPAP EXON Missense_S173N exm2226685 17 48595034 [T/C] NM_032133 MYCBPAP EXON Missense_I191T exm1336286 17 48595988 [G/C] NM_032133 MYCBPAP EXON Missense_E228D exm1336289 17 48596059 [A/G] NM_032133 MYCBPAP EXON Missense_R252Q exm1336302 17 48596437 [A/G] NM_032133 MYCBPAP EXON Missense_R295Q exm1336303 17 48596439 [T/C] NM_032133 MYCBPAP EXON Missense_R296C exm1336306 17 48597067 [A/G] NM_032133 MYCBPAP EXON Missense_M322V exm1336318 17 48598536 [T/C] NM_032133 MYCBPAP EXON Nonsense_R371X exm1336321 17 48598540 [A/G] NM_032133 MYCBPAP EXON Missense_R372H exm1336322 17 48598569 [G/C] NM_032133 MYCBPAP EXON Missense_L382V exm1336326 17 48598741 [A/G] NM_032133 MYCBPAP EXON Missense_Y409C exm1336327 17 48598785 [A/G] NM_032133 MYCBPAP EXON Missense_A424T exm1892253 17 48599362 [T/C] NM_032133 MYCBPAP EXON Missense_S436P exm2226687 17 48599366 [T/C] NM_032133 MYCBPAP EXON Missense_M437T exm1892257 17 48600427 [A/C] NM_032133 MYCBPAP EXON Missense_P505Q exm1336337 17 48600459 [A/G] NM_032133 MYCBPAP EXON Missense_M516V exm1336343 17 48601096 [T/C] NM_032133 MYCBPAP EXON Missense_A572V exm1336361 17 48602384 [A/G] NM_032133 MYCBPAP EXON Synonymous_P637P exm1336367 17 48603287 [T/C] NM_032133 MYCBPAP EXON Missense_R653C exm1336368 17 48603335 [A/G] NM_032133 MYCBPAP EXON Missense_D669N exm1336369 17 48603341 [A/G] NM_032133 MYCBPAP EXON Missense_E671K exm2226689 17 48603365 [A/G] NM_032133 MYCBPAP EXON Missense_E679K exm1336375 17 48603434 [T/C] NM_032133 MYCBPAP EXON Missense_R702W exm1336380 17 48603503 [T/C] NM_032133 MYCBPAP EXON Missense_R725W exm1336382 17 48603573 [A/G] NM_032133 MYCBPAP EXON Missense_E748G exm1336386 17 48604679 [C/G] NM_032133 MYCBPAP EXON Missense_R777T exm1336388 17 48604688 [T/C] NM_032133 MYCBPAP EXON Missense_A780V exm1336391 17 48604711 [A/G] NM_032133 MYCBPAP EXON Missense_A788T exm1336393 17 48604768 [T/C] NM_032133 MYCBPAP EXON Missense_C807R exm1336399 17 48606118 [T/C] NM_032133 MYCBPAP EXON Missense_R867W exm1336402 17 48606187 [G/C] NM_032133 MYCBPAP EXON Missense_L890V exm1892288 17 48606194 [A/G] NM_032133 MYCBPAP EXON Missense_G892E exm1336405 17 48606437 [T/C] NM_032133 MYCBPAP EXON Missense_A914V exm1336406 17 48606459 [C/G] NM_032133 MYCBPAP EXON Missense_L921F exm1336418 17 48608763 [A/G] NM_032133 MYCBPAP EXON Missense_E977K exm1336436 17 48614041 [A/G] NM_017957 EPN3 EXON Missense_E42K exm1336442 17 48614132 [A/G] NM_017957 EPN3 EXON Missense_R72Q exm1336447 17 48614188 [T/C] NM_017957 EPN3 EXON Missense_R91W exm1336449 17 48614206 [T/C] NM_017957 EPN3 EXON Missense_R97C exm1336450 17 48614221 [A/G] NM_017957 EPN3 EXON Missense_T102A exm1336455 17 48614278 [A/G] NM_017957 EPN3 EXON Missense_V121I exm1336461 17 48614290 [A/G] NM_017957 EPN3 EXON Missense_E125K exm1336468 17 48614339 [A/G] NM_017957 EPN3 EXON Missense_R141Q exm1336482 17 48614456 [A/G] NM_017957 EPN3 EXON Missense_R180Q exm1336498 17 48616306 [T/G] NM_017957 EPN3 EXON Missense_S248I exm1336506 17 48616617 [T/C] NM_017957 EPN3 EXON Missense_R278W exm2253062 17 48616670 [G/C] NM_017957 EPN3 EXON Synonymous_T295T exm1336512 17 48617647 [A/C] NM_017957 EPN3 EXON Missense_L311M exm1336520 17 48618168 [A/C] NM_017957 EPN3 EXON Missense_T332P exm1336525 17 48618243 [G/C] NM_017957 EPN3 EXON Missense_R357G exm1336531 17 48618360 [T/C] NM_017957 EPN3 EXON Missense_H396Y exm1336537 17 48618604 [T/C] NM_017957 EPN3 EXON Missense_F422L exm1336539 17 48618826 [A/G] NM_017957 EPN3 EXON Synonymous_E452E exm1336547 17 48618933 [T/A] NM_017957 EPN3 EXON Missense_K488I exm1336548 17 48618945 [T/C] NM_017957 EPN3 EXON Missense_A492V exm1336552 17 48619226 [A/C] NM_017957 EPN3 EXON Missense_T536N exm1336577 17 48625643 [C/G] NM_022827,NM_001258372,NM_001258373 SPATA20,SPATA20,SPATA20 Silent,Silent,Silent exm1336580 17 48625667 [A/G] NM_022827,NM_001258372,NM_001258373 SPATA20,SPATA20,SPATA20 EXON Missense_D50G,Missense_D34G,Silent exm1336581 17 48625669 [T/C] NM_022827,NM_001258372,NM_001258373 SPATA20,SPATA20,SPATA20 EXON Nonsense_R51X,Nonsense_R35X,Silent exm1336582 17 48625673 [A/G] NM_022827,NM_001258372,NM_001258373 SPATA20,SPATA20,SPATA20 EXON Missense_S52N,Missense_S36N,Silent exm1336584 17 48625679 [T/C] NM_022827,NM_001258372,NM_001258373 SPATA20,SPATA20,SPATA20 EXON Missense_T54M,Missense_T38M,Silent exm1336591 17 48625766 [A/G] NM_022827,NM_001258372,NM_001258373 SPATA20,SPATA20,SPATA20 EXON Missense_H83R,Missense_H67R,Missense_H23R exm1336601 17 48626172 [T/C] NM_022827,NM_001258372,NM_001258373 SPATA20,SPATA20,SPATA20 EXON Synonymous_V121V,Synonymous_V105V,Synonymous_V61V exm1336605 17 48626182 [A/C] NM_022827,NM_001258372,NM_001258373 SPATA20,SPATA20,SPATA20 EXON Missense_T125P,Missense_T109P,Missense_T65P exm2226694 17 48626287 [T/C] NM_022827,NM_001258372,NM_001258373 SPATA20,SPATA20,SPATA20 EXON Missense_R160W,Missense_R144W,Missense_R100W exm1336635 17 48626755 [A/G] NM_022827,NM_001258372,NM_001258373 SPATA20,SPATA20,SPATA20 EXON Missense_A257T,Missense_A241T,Missense_A197T exm2274958 17 48626846 [T/C] NM_022827,NM_001258372,NM_001258373 SPATA20,SPATA20,SPATA20 EXON Missense_P287L,Missense_P271L,Missense_P227L exm1336644 17 48626847 [A/G] NM_022827,NM_001258372,NM_001258373 SPATA20,SPATA20,SPATA20 EXON Synonymous_P287P,Synonymous_P271P,Synonymous_P227P exm1336648 17 48627454 [A/G] NM_022827,NM_001258372,NM_001258373 SPATA20,SPATA20,SPATA20 EXON Missense_G324D,Missense_G308D,Missense_G264D exm1336649 17 48627460 [A/G] NM_022827,NM_001258372,NM_001258373 SPATA20,SPATA20,SPATA20 EXON Missense_R326Q,Missense_R310Q,Missense_R266Q exm1336658 17 48627630 [A/G] NM_022827,NM_001258372,NM_001258373 SPATA20,SPATA20,SPATA20 EXON Missense_Y352C,Missense_Y336C,Missense_Y292C exm1336662 17 48627660 [T/C] NM_022827,NM_001258372,NM_001258373 SPATA20,SPATA20,SPATA20 EXON Missense_S362L,Missense_S346L,Missense_S302L exm1336670 17 48628123 [T/C] NM_022827,NM_001258372,NM_001258373 SPATA20,SPATA20,SPATA20 EXON Missense_R410W,Missense_R394W,Missense_R350W exm1336673 17 48628160 [A/G] NM_022827,NM_001258372,NM_001258373 SPATA20,SPATA20,SPATA20 EXON Missense_K422R,Missense_K406R,Missense_K362R exm1336683 17 48628452 [A/G] NM_022827,NM_001258372,NM_001258373 SPATA20,SPATA20,SPATA20 EXON Missense_V493M,Missense_V477M,Missense_V433M exm1336698 17 48629000 [C/G] NM_022827,NM_001258372,NM_001258373 SPATA20,SPATA20,SPATA20 EXON Missense_R569G,Missense_R553G,Missense_R509G exm1892385 17 48629395 [A/G] NM_022827,NM_001258372,NM_001258373 SPATA20,SPATA20,SPATA20 EXON Missense_Y604C,Missense_Y588C,Missense_Y544C exm1336712 17 48629458 [A/G] NM_022827,NM_001258372,NM_001258373 SPATA20,SPATA20,SPATA20 EXON Missense_K625R,Missense_K609R,Missense_K565R exm2253063 17 48631634 [T/C] NM_022827,NM_001258372,NM_001258373 SPATA20,SPATA20,SPATA20 EXON Synonymous_S660S,Synonymous_S644S,Synonymous_S600S exm1336720 17 48631681 [C/G] NM_022827,NM_001258372,NM_001258373 SPATA20,SPATA20,SPATA20 EXON Missense_T676R,Missense_T660R,Missense_T616R exm1336727 17 48631777 [A/G] NM_022827,NM_001258372,NM_001258373 SPATA20,SPATA20,SPATA20 EXON Missense_R708H,Missense_R692H,Missense_R648H exm1336728 17 48631779 [A/G] NM_022827,NM_001258372,NM_001258373 SPATA20,SPATA20,SPATA20 EXON Missense_A709T,Missense_A693T,Missense_A649T exm1336732 17 48632593 [A/G] NM_022827,NM_001258372,NM_001258373 SPATA20,SPATA20,SPATA20 EXON Missense_I720V,Missense_I704V,Missense_I660V exm1336737 17 48632895 [T/C] NM_022827,NM_001258372,NM_001258373 SPATA20,SPATA20,SPATA20 EXON Missense_R761C,Missense_R745C,Missense_R701C exm1336743 17 48632997 [A/G] NM_022827,NM_001258372,NM_001258373 SPATA20,SPATA20,SPATA20 EXON Missense_E795K,Missense_E779K,Missense_E735K exm1336759 17 48646274 [A/G] NM_001256331,NM_198396,NM_001256332,NM_001256326,NM_198382,NM_198378,NM_198379,NM_198384,NM_198387,NM_001256330,NM_001256333,NM_001256327,NM_198388,NR_046056,NM_198383,NM_198386,NR_046058,NR_046057,NR_046054,NM_001256334,NM_001256360,NM_198377,NM_001256359,NM_001256329,NM_001256361,NM_198380,NR_046055,NM_198385,NM_198376,NM_001256325,NM_001256324,NM_018896,NM_001256328 CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G EXON Missense_V96M,Missense_V96M,Missense_V96M,Missense_V96M,Missense_V96M,Missense_V96M,Missense_V96M,Missense_V96M,Missense_V96M,Missense_V96M,Missense_V96M,Missense_V96M,Missense_V96M,Silent,Missense_V96M,Missense_V96M,Silent,Silent,Silent,Missense_V96M,Missense_V96M,Missense_V96M,Missense_V96M,Missense_V96M,Missense_V96M,Missense_V96M,Silent,Missense_V96M,Missense_V96M,Missense_V96M,Missense_V96M,Missense_V96M,Missense_V96M exm1336786 17 48650048 [A/G] NM_001256331,NM_198396,NM_001256332,NM_001256326,NM_198382,NM_198378,NM_198379,NM_198384,NM_198387,NM_001256330,NM_001256333,NM_001256327,NM_198388,NR_046056,NM_198383,NM_198386,NR_046058,NR_046057,NR_046054,NM_001256334,NM_001256360,NM_198377,NM_001256359,NM_001256329,NM_001256361,NM_198380,NR_046055,NM_198385,NM_198376,NM_001256325,NM_001256324,NM_018896,NM_001256328 CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G EXON Missense_G294S,Missense_G294S,Missense_G294S,Missense_G294S,Missense_G294S,Missense_G294S,Missense_G294S,Missense_G294S,Missense_G294S,Missense_G294S,Missense_G294S,Missense_G294S,Missense_G294S,Silent,Missense_G294S,Missense_G294S,Silent,Silent,Silent,Missense_G294S,Missense_G294S,Missense_G294S,Missense_G294S,Missense_G294S,Missense_G294S,Missense_G294S,Silent,Missense_G294S,Missense_G294S,Missense_G294S,Missense_G294S,Missense_G294S,Missense_G294S exm1336788 17 48650063 [A/G] NM_001256331,NM_198396,NM_001256332,NM_001256326,NM_198382,NM_198378,NM_198379,NM_198384,NM_198387,NM_001256330,NM_001256333,NM_001256327,NM_198388,NR_046056,NM_198383,NM_198386,NR_046058,NR_046057,NR_046054,NM_001256334,NM_001256360,NM_198377,NM_001256359,NM_001256329,NM_001256361,NM_198380,NR_046055,NM_198385,NM_198376,NM_001256325,NM_001256324,NM_018896,NM_001256328 CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G EXON Missense_G299S,Missense_G299S,Missense_G299S,Missense_G299S,Missense_G299S,Missense_G299S,Missense_G299S,Missense_G299S,Missense_G299S,Missense_G299S,Missense_G299S,Missense_G299S,Missense_G299S,Silent,Missense_G299S,Missense_G299S,Silent,Silent,Silent,Missense_G299S,Missense_G299S,Missense_G299S,Missense_G299S,Missense_G299S,Missense_G299S,Missense_G299S,Silent,Missense_G299S,Missense_G299S,Missense_G299S,Missense_G299S,Missense_G299S,Missense_G299S exm1336800 17 48653130 [A/G] NM_001256331,NM_198396,NM_001256332,NM_001256326,NM_198382,NM_198378,NM_198379,NM_198384,NM_198387,NM_001256330,NM_001256333,NM_001256327,NM_198388,NR_046056,NM_198383,NM_198386,NR_046058,NR_046057,NR_046054,NM_001256334,NM_001256360,NM_198377,NM_001256359,NM_001256329,NM_001256361,NM_198380,NR_046055,NM_198385,NM_198376,NM_001256325,NM_001256324,NM_018896,NM_001256328 CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G EXON Missense_R456Q,Missense_R456Q,Missense_R456Q,Missense_R456Q,Missense_R456Q,Missense_R456Q,Missense_R456Q,Missense_R456Q,Missense_R456Q,Missense_R456Q,Missense_R456Q,Missense_R456Q,Missense_R456Q,Silent,Missense_R456Q,Missense_R456Q,Silent,Silent,Silent,Missense_R456Q,Missense_R456Q,Missense_R456Q,Missense_R456Q,Missense_R456Q,Missense_R456Q,Missense_R456Q,Silent,Missense_R456Q,Missense_R456Q,Missense_R456Q,Missense_R456Q,Missense_R456Q,Missense_R456Q exm1336822 17 48653462 [T/C] NM_001256331,NM_198396,NM_001256332,NM_001256326,NM_198382,NM_198378,NM_198379,NM_198384,NM_198387,NM_001256330,NM_001256333,NM_001256327,NM_198388,NR_046056,NM_198383,NM_198386,NR_046058,NR_046057,NR_046054,NM_001256334,NM_001256360,NM_198377,NM_001256359,NM_001256329,NM_001256361,NM_198380,NR_046055,NM_198385,NM_198376,NM_001256325,NM_001256324,NM_018896,NM_001256328 CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G EXON Missense_R567C,Missense_R567C,Missense_R567C,Missense_R567C,Missense_R567C,Missense_R567C,Missense_R567C,Missense_R567C,Missense_R567C,Missense_R567C,Missense_R567C,Missense_R567C,Missense_R567C,Silent,Missense_R567C,Missense_R567C,Silent,Silent,Silent,Missense_R567C,Missense_R567C,Missense_R567C,Missense_R567C,Missense_R567C,Missense_R567C,Missense_R567C,Silent,Missense_R567C,Missense_R567C,Missense_R567C,Missense_R567C,Missense_R567C,Missense_R567C exm1892429 17 48655644 [A/G] NM_001256331,NM_198396,NM_001256332,NM_001256326,NM_198382,NM_198378,NM_198379,NM_198384,NM_198387,NM_001256330,NM_001256333,NM_001256327,NM_198388,NR_046056,NM_198383,NM_198386,NR_046058,NR_046057,NR_046054,NM_001256334,NM_001256360,NM_198377,NM_001256359,NM_001256329,NM_001256361,NM_198380,NR_046055,NM_198385,NM_198376,NM_001256325,NM_001256324,NM_018896,NM_001256328 CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G EXON Missense_G674R,Missense_G674R,Missense_G674R,Missense_G674R,Missense_G674R,Missense_G674R,Missense_G674R,Missense_G674R,Missense_G674R,Missense_G674R,Missense_G674R,Missense_G674R,Missense_G674R,Silent,Missense_G674R,Missense_G674R,Silent,Silent,Silent,Missense_G674R,Missense_G674R,Missense_G674R,Missense_G674R,Missense_G674R,Missense_G674R,Missense_G674R,Silent,Missense_G674R,Missense_G674R,Missense_G674R,Missense_G674R,Missense_G674R,Missense_G674R exm1892430 17 48655648 [A/C] NM_001256331,NM_198396,NM_001256332,NM_001256326,NM_198382,NM_198378,NM_198379,NM_198384,NM_198387,NM_001256330,NM_001256333,NM_001256327,NM_198388,NR_046056,NM_198383,NM_198386,NR_046058,NR_046057,NR_046054,NM_001256334,NM_001256360,NM_198377,NM_001256359,NM_001256329,NM_001256361,NM_198380,NR_046055,NM_198385,NM_198376,NM_001256325,NM_001256324,NM_018896,NM_001256328 CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G EXON Missense_A675E,Missense_A675E,Missense_A675E,Missense_A675E,Missense_A675E,Missense_A675E,Missense_A675E,Missense_A675E,Missense_A675E,Missense_A675E,Missense_A675E,Missense_A675E,Missense_A675E,Silent,Missense_A675E,Missense_A675E,Silent,Silent,Silent,Missense_A675E,Missense_A675E,Missense_A675E,Missense_A675E,Missense_A675E,Missense_A675E,Missense_A675E,Silent,Missense_A675E,Missense_A675E,Missense_A675E,Missense_A675E,Missense_A675E,Missense_A675E exm1336844 17 48655693 [A/G] NM_001256331,NM_198396,NM_001256332,NM_001256326,NM_198382,NM_198378,NM_198379,NM_198384,NM_198387,NM_001256330,NM_001256333,NM_001256327,NM_198388,NR_046056,NM_198383,NM_198386,NR_046058,NR_046057,NR_046054,NM_001256334,NM_001256360,NM_198377,NM_001256359,NM_001256329,NM_001256361,NM_198380,NR_046055,NM_198385,NM_198376,NM_001256325,NM_001256324,NM_018896,NM_001256328 CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G EXON Missense_S690N,Missense_S690N,Missense_S690N,Missense_S690N,Missense_S690N,Missense_S690N,Missense_S690N,Missense_S690N,Missense_S690N,Missense_S690N,Missense_S690N,Missense_S690N,Missense_S690N,Silent,Missense_S690N,Missense_S690N,Silent,Silent,Silent,Missense_S690N,Missense_S690N,Missense_S690N,Missense_S690N,Missense_S690N,Missense_S690N,Missense_S690N,Silent,Missense_S690N,Missense_S690N,Missense_S690N,Missense_S690N,Missense_S690N,Missense_S690N exm1336850 17 48655768 [T/G] NM_001256331,NM_198396,NM_001256332,NM_001256326,NM_198382,NM_198378,NM_198379,NM_198384,NM_198387,NM_001256330,NM_001256333,NM_001256327,NM_198388,NR_046056,NM_198383,NM_198386,NR_046058,NR_046057,NR_046054,NM_001256334,NM_001256360,NM_198377,NM_001256359,NM_001256329,NM_001256361,NM_198380,NR_046055,NM_198385,NM_198376,NM_001256325,NM_001256324,NM_018896,NM_001256328 CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G EXON Missense_S715I,Missense_S715I,Missense_S715I,Missense_S715I,Missense_S715I,Missense_S715I,Missense_S715I,Missense_S715I,Missense_S715I,Missense_S715I,Missense_S715I,Missense_S715I,Missense_S715I,Silent,Missense_S715I,Missense_S715I,Silent,Silent,Silent,Missense_S715I,Missense_S715I,Missense_S715I,Missense_S715I,Missense_S715I,Missense_S715I,Missense_S715I,Silent,Missense_S715I,Missense_S715I,Missense_S715I,Missense_S715I,Missense_S715I,Missense_S715I exm1336890 17 48676825 [A/G] NM_001256331,NM_198396,NM_001256332,NM_001256326,NM_198382,NM_198378,NM_198379,NM_198384,NM_198387,NM_001256330,NM_001256333,NM_001256327,NM_198388,NR_046056,NM_198383,NM_198386,NR_046058,NR_046057,NR_046054,NM_001256334,NM_001256360,NM_198377,NM_001256359,NM_001256329,NM_001256361,NM_198380,NR_046055,NM_198385,NM_198376,NM_001256325,NM_001256324,NM_018896,NM_001256328 CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G EXON Missense_A1099T,Missense_A1076T,Missense_A1076T,Missense_A1099T,Missense_A1076T,Missense_A1099T,Missense_A1076T,Missense_A1099T,Missense_A1076T,Missense_A1099T,Missense_A1099T,Missense_A1099T,Missense_A1076T,Silent,Missense_A1076T,Missense_A1099T,Silent,Silent,Silent,Missense_A1099T,Missense_A1099T,Missense_A1099T,Missense_A1099T,Missense_A1099T,Missense_A1099T,Missense_A1099T,Silent,Missense_A1099T,Missense_A1076T,Missense_A1099T,Missense_A1099T,Missense_A1099T,Missense_A1099T exm1336896 17 48677099 [G/C] NM_001256331,NM_198396,NM_001256332,NM_001256326,NM_198382,NM_198378,NM_198379,NM_198384,NM_198387,NM_001256330,NM_001256333,NM_001256327,NM_198388,NR_046056,NM_198383,NM_198386,NR_046058,NR_046057,NR_046054,NM_001256334,NM_001256360,NM_198377,NM_001256359,NM_001256329,NM_001256361,NM_198380,NR_046055,NM_198385,NM_198376,NM_001256325,NM_001256324,NM_018896,NM_001256328 CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G EXON Missense_R1190P,Missense_R1167P,Missense_R1167P,Missense_R1190P,Missense_R1167P,Missense_R1190P,Missense_R1167P,Missense_R1190P,Missense_R1167P,Missense_R1190P,Missense_R1190P,Missense_R1190P,Missense_R1167P,Silent,Missense_R1167P,Missense_R1190P,Silent,Silent,Silent,Missense_R1190P,Missense_R1190P,Missense_R1190P,Missense_R1190P,Missense_R1190P,Missense_R1190P,Missense_R1190P,Silent,Missense_R1190P,Missense_R1167P,Missense_R1190P,Missense_R1190P,Missense_R1190P,Missense_R1190P exm1336909 17 48678100 [A/G] NM_001256331,NM_198396,NM_001256332,NM_001256326,NM_198382,NM_198378,NM_198379,NM_198384,NM_198387,NM_001256330,NM_001256333,NM_001256327,NM_198388,NR_046056,NM_198383,NM_198386,NR_046058,NR_046057,NR_046054,NM_001256334,NM_001256360,NM_198377,NM_001256359,NM_001256329,NM_001256361,NM_198380,NR_046055,NM_198385,NM_198376,NM_001256325,NM_001256324,NM_018896,NM_001256328 CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G EXON Missense_R1235Q,Missense_R1212Q,Missense_R1212Q,Missense_R1235Q,Missense_R1212Q,Missense_R1235Q,Missense_R1212Q,Missense_R1235Q,Missense_R1212Q,Missense_R1235Q,Missense_R1235Q,Missense_R1235Q,Missense_R1212Q,Silent,Missense_R1212Q,Missense_R1235Q,Silent,Silent,Silent,Missense_R1235Q,Missense_R1235Q,Missense_R1235Q,Missense_R1235Q,Missense_R1235Q,Missense_R1235Q,Missense_R1235Q,Silent,Missense_R1235Q,Missense_R1212Q,Missense_R1235Q,Missense_R1235Q,Missense_R1235Q,Missense_R1235Q exm1892460 17 48678124 [A/G] NM_001256331,NM_198396,NM_001256332,NM_001256326,NM_198382,NM_198378,NM_198379,NM_198384,NM_198387,NM_001256330,NM_001256333,NM_001256327,NM_198388,NR_046056,NM_198383,NM_198386,NR_046058,NR_046057,NR_046054,NM_001256334,NM_001256360,NM_198377,NM_001256359,NM_001256329,NM_001256361,NM_198380,NR_046055,NM_198385,NM_198376,NM_001256325,NM_001256324,NM_018896,NM_001256328 CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G EXON Missense_R1243Q,Missense_R1220Q,Missense_R1220Q,Missense_R1243Q,Missense_R1220Q,Missense_R1243Q,Missense_R1220Q,Missense_R1243Q,Missense_R1220Q,Missense_R1243Q,Missense_R1243Q,Missense_R1243Q,Missense_R1220Q,Silent,Missense_R1220Q,Missense_R1243Q,Silent,Silent,Silent,Missense_R1243Q,Missense_R1243Q,Missense_R1243Q,Missense_R1243Q,Missense_R1243Q,Missense_R1243Q,Missense_R1243Q,Silent,Missense_R1243Q,Missense_R1220Q,Missense_R1243Q,Missense_R1243Q,Missense_R1243Q,Missense_R1243Q exm1336913 17 48678412 [T/G] NM_001256331,NM_198396,NM_001256332,NM_001256326,NM_198382,NM_198378,NM_198379,NM_198384,NM_198387,NM_001256330,NM_001256333,NM_001256327,NM_198388,NR_046056,NM_198383,NM_198386,NR_046058,NR_046057,NR_046054,NM_001256334,NM_001256360,NM_198377,NM_001256359,NM_001256329,NM_001256361,NM_198380,NR_046055,NM_198385,NM_198376,NM_001256325,NM_001256324,NM_018896,NM_001256328 CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G EXON Missense_R1264S,Missense_R1241S,Missense_R1241S,Missense_R1264S,Missense_R1241S,Missense_R1264S,Missense_R1241S,Missense_R1264S,Missense_R1241S,Missense_R1264S,Missense_R1264S,Missense_R1264S,Missense_R1241S,Silent,Missense_R1241S,Missense_R1264S,Silent,Silent,Silent,Missense_R1264S,Missense_R1264S,Missense_R1264S,Missense_R1264S,Missense_R1264S,Missense_R1264S,Missense_R1264S,Silent,Missense_R1264S,Missense_R1241S,Missense_R1264S,Missense_R1264S,Missense_R1264S,Missense_R1264S exm1336935 17 48683415 [G/C] NM_001256331,NM_198396,NM_001256332,NM_001256326,NM_198382,NM_198378,NM_198379,NM_198384,NM_198387,NM_001256330,NM_001256333,NM_001256327,NM_198388,NR_046056,NM_198383,NM_198386,NR_046058,NR_046057,NR_046054,NM_001256334,NM_001256360,NM_198377,NM_001256359,NM_001256329,NM_001256361,NM_198380,NR_046055,NM_198385,NM_198376,NM_001256325,NM_001256324,NM_018896,NM_001256328 CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm1336982 17 48696098 [T/C] NM_001256331,NM_198396,NM_001256332,NM_001256326,NM_198382,NM_198378,NM_198379,NM_198384,NM_198387,NM_001256330,NM_001256333,NM_001256327,NM_198388,NR_046056,NM_198383,NM_198386,NR_046058,NR_046057,NR_046054,NM_001256334,NM_001256360,NM_198377,NM_001256359,NM_001256329,NM_001256361,NM_198380,NR_046055,NM_198385,NM_198376,NM_001256325,NM_001256324,NM_018896,NM_001256328 CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G EXON Missense_T1785M,Missense_T1803M,Missense_T1780M,Missense_T1792M,Missense_T1814M,Missense_T1826M,Missense_T1803M,Missense_T1837M,Missense_T1803M,Missense_T1792M,Missense_T1837M,Missense_T1830M,Missense_T1796M,Silent,Missense_T1814M,Missense_T1819M,Silent,Silent,Silent,Missense_T1826M,Missense_T1801M,Missense_T1826M,Missense_T1810M,Missense_T1803M,Missense_T1799M,Missense_T1826M,Silent,Missense_T1837M,Missense_T1803M,Missense_T1844M,Missense_T1819M,Missense_T1837M,Missense_T1812M exm1337003 17 48699076 [T/C] NM_001256331,NM_198396,NM_001256332,NM_001256326,NM_198382,NM_198378,NM_198379,NM_198384,NM_198387,NM_001256330,NM_001256333,NM_001256327,NM_198388,NR_046056,NM_198383,NM_198386,NR_046058,NR_046057,NR_046054,NM_001256334,NM_001256360,NM_198377,NM_001256359,NM_001256329,NM_001256361,NM_198380,NR_046055,NM_198385,NM_198376,NM_001256325,NM_001256324,NM_018896,NM_001256328 CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G EXON Silent,Missense_P1960L,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_P1923L,Silent,Silent,Silent,Silent,Silent,Silent,Missense_P1983L,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_P1994L,Silent exm1337010 17 48701371 [A/G] NM_001256331,NM_198396,NM_001256332,NM_001256326,NM_198382,NM_198378,NM_198379,NM_198384,NM_198387,NM_001256330,NM_001256333,NM_001256327,NM_198388,NR_046056,NM_198383,NM_198386,NR_046058,NR_046057,NR_046054,NM_001256334,NM_001256360,NM_198377,NM_001256359,NM_001256329,NM_001256361,NM_198380,NR_046055,NM_198385,NM_198376,NM_001256325,NM_001256324,NM_018896,NM_001256328 CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G EXON Missense_R1910Q,Missense_R2021Q,Missense_R1905Q,Missense_R1965Q,Missense_R1939Q,Missense_R1951Q,Missense_R1976Q,Missense_R1962Q,Missense_R1928Q,Missense_R1917Q,Missense_R1962Q,Missense_R1955Q,Missense_R1921Q,Silent,Missense_R1984Q,Missense_R1944Q,Silent,Silent,Silent,Missense_R1951Q,Missense_R1926Q,Missense_R2044Q,Missense_R1935Q,Missense_R1928Q,Missense_R1924Q,Missense_R1999Q,Silent,Missense_R2010Q,Missense_R1928Q,Missense_R1969Q,Missense_R1992Q,Missense_R2055Q,Missense_R1937Q exm1337016 17 48701789 [T/C] NM_001256331,NM_198396,NM_001256332,NM_001256326,NM_198382,NM_198378,NM_198379,NM_198384,NM_198387,NM_001256330,NM_001256333,NM_001256327,NM_198388,NR_046056,NM_198383,NM_198386,NR_046058,NR_046057,NR_046054,NM_001256334,NM_001256360,NM_198377,NM_001256359,NM_001256329,NM_001256361,NM_198380,NR_046055,NM_198385,NM_198376,NM_001256325,NM_001256324,NM_018896,NM_001256328 CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G EXON Missense_P1955S,Missense_P2066S,Missense_P1950S,Missense_P2010S,Missense_P1984S,Missense_P1996S,Missense_P2021S,Missense_P2007S,Missense_P1973S,Missense_P1962S,Missense_P2007S,Missense_P2000S,Missense_P1966S,Silent,Missense_P2029S,Missense_P1989S,Silent,Silent,Silent,Missense_P1996S,Missense_P1971S,Missense_P2089S,Missense_P1980S,Missense_P1973S,Missense_P1969S,Missense_P2044S,Silent,Missense_P2055S,Missense_P1973S,Missense_P2014S,Missense_P2037S,Missense_P2100S,Missense_P1982S exm1337019 17 48701813 [T/G] NM_001256331,NM_198396,NM_001256332,NM_001256326,NM_198382,NM_198378,NM_198379,NM_198384,NM_198387,NM_001256330,NM_001256333,NM_001256327,NM_198388,NR_046056,NM_198383,NM_198386,NR_046058,NR_046057,NR_046054,NM_001256334,NM_001256360,NM_198377,NM_001256359,NM_001256329,NM_001256361,NM_198380,NR_046055,NM_198385,NM_198376,NM_001256325,NM_001256324,NM_018896,NM_001256328 CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G EXON Missense_A1963S,Missense_A2074S,Missense_A1958S,Missense_A2018S,Missense_A1992S,Missense_A2004S,Missense_A2029S,Missense_A2015S,Missense_A1981S,Missense_A1970S,Missense_A2015S,Missense_A2008S,Missense_A1974S,Silent,Missense_A2037S,Missense_A1997S,Silent,Silent,Silent,Missense_A2004S,Missense_A1979S,Missense_A2097S,Missense_A1988S,Missense_A1981S,Missense_A1977S,Missense_A2052S,Silent,Missense_A2063S,Missense_A1981S,Missense_A2022S,Missense_A2045S,Missense_A2108S,Missense_A1990S exm1337024 17 48703460 [T/C] NM_001256331,NM_198396,NM_001256332,NM_001256326,NM_198382,NM_198378,NM_198379,NM_198384,NM_198387,NM_001256330,NM_001256333,NM_001256327,NM_198388,NR_046056,NM_198383,NM_198386,NR_046058,NR_046057,NR_046054,NM_001256334,NM_001256360,NM_198377,NM_001256359,NM_001256329,NM_001256361,NM_198380,NR_046055,NM_198385,NM_198376,NM_001256325,NM_001256324,NM_018896,NM_001256328 CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G EXON Missense_P2016L,Missense_P2127L,Missense_P2011L,Missense_P2071L,Missense_P2045L,Missense_P2057L,Missense_P2082L,Missense_P2068L,Missense_P2034L,Missense_P2023L,Silent,Missense_P2061L,Missense_P2027L,Silent,Missense_P2090L,Missense_P2050L,Silent,Silent,Silent,Silent,Missense_P2032L,Missense_P2150L,Missense_P2041L,Missense_P2034L,Missense_P2030L,Missense_P2105L,Silent,Missense_P2116L,Silent,Missense_P2075L,Missense_P2098L,Missense_P2161L,Missense_P2043L exm1337044 17 48703943 [A/G] NM_001256331,NM_198396,NM_001256332,NM_001256326,NM_198382,NM_198378,NM_198379,NM_198384,NM_198387,NM_001256330,NM_001256333,NM_001256327,NM_198388,NR_046056,NM_198383,NM_198386,NR_046058,NR_046057,NR_046054,NM_001256334,NM_001256360,NM_198377,NM_001256359,NM_001256329,NM_001256361,NM_198380,NR_046055,NM_198385,NM_198376,NM_001256325,NM_001256324,NM_018896,NM_001256328 CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G EXON Missense_R2177Q,Missense_R2288Q,Missense_R2172Q,Missense_R2232Q,Missense_R2206Q,Missense_R2218Q,Missense_R2243Q,Missense_R2229Q,Missense_R2195Q,Missense_R2184Q,Missense_R2150Q,Missense_R2222Q,Missense_R2188Q,Silent,Missense_R2251Q,Missense_R2211Q,Silent,Silent,Silent,Missense_R2139Q,Missense_R2193Q,Missense_R2311Q,Missense_R2202Q,Missense_R2195Q,Missense_R2191Q,Missense_R2266Q,Silent,Missense_R2277Q,Missense_R2116Q,Missense_R2236Q,Missense_R2259Q,Missense_R2322Q,Missense_R2204Q exm1337068 17 48733349 [T/C] NM_001144070,NM_003786 ABCC3,ABCC3 EXON Missense_H68Y,Missense_H68Y exm1337069 17 48733352 [G/C] NM_001144070,NM_003786 ABCC3,ABCC3 EXON Missense_L69V,Missense_L69V exm1337073 17 48734136 [A/G] NM_001144070,NM_003786 ABCC3,ABCC3 EXON Missense_R99Q,Missense_R99Q exm1337077 17 48734492 [T/C] NM_001144070,NM_003786 ABCC3,ABCC3 EXON Missense_V145A,Missense_V145A exm1337078 17 48734516 [A/G] NM_001144070,NM_003786 ABCC3,ABCC3 EXON Missense_R153H,Missense_R153H exm1337089 17 48735817 [A/G] NM_001144070,NM_003786 ABCC3,ABCC3 EXON Missense_A212T,Missense_A212T exm1337109 17 48738418 [T/G] NM_001144070,NM_003786 ABCC3,ABCC3 EXON Missense_S314I,Missense_S314I exm1337111 17 48738457 [T/C] NM_001144070,NM_003786 ABCC3,ABCC3 EXON Missense_I327T,Missense_I327T exm1337117 17 48741080 [T/C] NM_001144070,NM_003786 ABCC3,ABCC3 EXON Missense_S346F,Missense_S346F exm1337121 17 48741111 [A/G] NM_001144070,NM_003786 ABCC3,ABCC3 EXON Missense_M356I,Missense_M356I exm1337131 17 48741350 [A/G] NM_001144070,NM_003786 ABCC3,ABCC3 EXON Missense_V406M,Missense_V406M exm1337137 17 48741440 [A/C] NM_001144070,NM_003786 ABCC3,ABCC3 EXON Missense_Q436K,Missense_Q436K exm1337140 17 48742513 [T/G] NM_001144070,NM_003786 ABCC3,ABCC3 Silent,Silent exm1337159 17 48745231 [T/A] NM_001144070,NM_003786 ABCC3,ABCC3 EXON Silent,Missense_L548Q exm1337183 17 48746823 [T/G] NM_003786 ABCC3 EXON Missense_E725D exm1337203 17 48750851 [A/G] NM_003786 ABCC3 EXON Missense_G811S exm1337214 17 48752837 [A/G] NM_003786 ABCC3 EXON Missense_R905K exm2253064 17 48752995 [A/G] NM_003786 ABCC3 EXON Synonymous_Q906Q exm1337247 17 48755222 [T/C] NM_003786 ABCC3 EXON Missense_R1166C exm1337249 17 48755229 [A/G] NM_003786 ABCC3 EXON Missense_R1168Q exm1337253 17 48755304 [A/G] NM_003786 ABCC3 EXON Missense_R1193Q exm1337261 17 48755518 [A/G] NM_003786 ABCC3 EXON Missense_V1215I exm1337276 17 48761038 [A/G] NM_003786 ABCC3 EXON Missense_R1292Q exm1337278 17 48761053 [A/G] NM_003786 ABCC3 EXON Missense_R1297H exm1337279 17 48761062 [T/C] NM_003786 ABCC3 EXON Missense_P1300L exm1337287 17 48761326 [A/G] NM_003786 ABCC3 EXON Missense_R1324H exm1337290 17 48761385 [A/G] NM_003786 ABCC3 EXON Missense_K1344E exm1337298 17 48761449 [A/G] NM_003786 ABCC3 EXON Missense_Q1365R exm1337301 17 48762097 [T/C] NM_003786 ABCC3 EXON Missense_R1381C exm1337303 17 48762173 [T/C] NM_003786 ABCC3 EXON Missense_T1406M exm1337304 17 48762190 [A/C] NM_003786 ABCC3 EXON Missense_P1412T exm1337306 17 48762223 [A/G] NM_003786 ABCC3 EXON Missense_G1423R exm1337315 17 48765024 [A/G] NM_003786 ABCC3 EXON Missense_T1470A exm1337317 17 48765064 [A/G] NM_003786 ABCC3 EXON Missense_R1483Q exm1337338 17 48776874 [A/G] NM_052855 ANKRD40 EXON Missense_S222P exm1337339 17 48776886 [A/G] NM_052855 ANKRD40 EXON Missense_S218P exm1337342 17 48776969 [T/A] NM_052855 ANKRD40 EXON Missense_V190E exm1337343 17 48777000 [T/G] NM_052855 ANKRD40 EXON Missense_T180P exm1337353 17 48777241 [T/A] NM_052855 ANKRD40 EXON Missense_D99E exm1337365 17 48784934 [T/C] NM_052855 ANKRD40 EXON Missense_K28E exm1337373 17 48784984 [A/T] NM_052855 ANKRD40 EXON Missense_Q11L exm1337420 17 48827894 [A/G] NM_016424,NM_006107 LUC7L3,LUC7L3 EXON Missense_V391M,Missense_V391M exm1337424 17 48827973 [A/G] NM_016424,NM_006107 LUC7L3,LUC7L3 EXON Missense_N417S,Missense_N417S exm2260668 17 48895156 [T/C] exm2276523 17 48913321 [A/G] NM_175575 WFIKKN2 EXON Missense_R8Q exm1337429 17 48913351 [T/C] NM_175575 WFIKKN2 EXON Missense_A18V exm1337433 17 48913390 [A/G] NM_175575 WFIKKN2 EXON Missense_R31Q exm1337447 17 48916914 [A/G] NM_175575 WFIKKN2 EXON Missense_V89M exm1337449 17 48916935 [A/G] NM_175575 WFIKKN2 EXON Missense_V96M exm1337467 17 48917346 [A/G] NM_175575 WFIKKN2 EXON Missense_V233M exm1337468 17 48917355 [T/C] NM_175575 WFIKKN2 EXON Missense_R236W exm1337472 17 48917416 [A/G] NM_175575 WFIKKN2 EXON Missense_R256Q exm1337477 17 48917532 [A/G] NM_175575 WFIKKN2 EXON Missense_V295I exm1892722 17 48917557 [T/C] NM_175575 WFIKKN2 EXON Missense_S303L exm1337486 17 48917620 [T/C] NM_175575 WFIKKN2 EXON Missense_P324L exm1337506 17 48917907 [A/G] NM_175575 WFIKKN2 EXON Missense_E420K exm1337513 17 48918012 [A/G] NM_175575 WFIKKN2 EXON Missense_V455I exm1337540 17 48918333 [T/C] NM_175575 WFIKKN2 EXON Missense_H562Y exm2272527 17 48919039 [T/C] NM_175575 WFIKKN2 EXON Silent exm1337546 17 48940550 [G/C] NM_001243877,NM_005749,NM_001243885 TOB1,TOB1,TOB1 EXON Missense_P277A,Missense_P277A,Missense_P138A exm2274959 17 48940627 [A/G] NM_001243877,NM_005749,NM_001243885 TOB1,TOB1,TOB1 EXON Missense_P251L,Missense_P251L,Missense_P112L exm1337555 17 48940760 [T/C] NM_001243877,NM_005749,NM_001243885 TOB1,TOB1,TOB1 EXON Missense_I207V,Missense_I207V,Missense_I68V exm1337556 17 48940783 [T/C] NM_001243877,NM_005749,NM_001243885 TOB1,TOB1,TOB1 EXON Missense_N199S,Missense_N199S,Missense_N60S exm1337560 17 48940861 [T/C] NM_001243877,NM_005749,NM_001243885 TOB1,TOB1,TOB1 EXON Missense_Q173R,Missense_Q173R,Missense_Q34R exm1337565 17 48940918 [A/G] NM_001243877,NM_005749,NM_001243885 TOB1,TOB1,TOB1 EXON Missense_S154L,Missense_S154L,Missense_S15L exm1337578 17 48941234 [A/G] NM_001243877,NM_005749,NM_001243885 TOB1,TOB1,TOB1 EXON Missense_P49S,Missense_P49S,Silent exm1337588 17 49043640 [T/C] NM_001251971,NM_001130528,NM_003971,NM_001130527 SPAG9,SPAG9,SPAG9,SPAG9 EXON Missense_N1176S,Missense_N1320S,Missense_N1306S,Missense_N1310S exm1337594 17 49048127 [A/G] NM_001251971,NM_001130528,NM_003971,NM_001130527 SPAG9,SPAG9,SPAG9,SPAG9 EXON Missense_T1120M,Missense_T1264M,Missense_T1250M,Missense_T1254M exm1337595 17 49048143 [T/C] NM_001251971,NM_001130528,NM_003971,NM_001130527 SPAG9,SPAG9,SPAG9,SPAG9 EXON Missense_E1115K,Missense_E1259K,Missense_E1245K,Missense_E1249K exm1337603 17 49052278 [T/C] NM_001251971,NM_001130528,NM_003971,NM_001130527 SPAG9,SPAG9,SPAG9,SPAG9 EXON Missense_R1041H,Missense_R1185H,Missense_R1171H,Missense_R1175H exm2253068 17 49060008 [A/G] NM_001251971,NM_001130528,NM_003971,NM_001130527 SPAG9,SPAG9,SPAG9,SPAG9 EXON Synonymous_Y881Y,Synonymous_Y1038Y,Synonymous_Y1024Y,Synonymous_Y1028Y exm1337624 17 49062287 [A/C] NM_001251971,NM_001130528,NM_003971,NM_001130527 SPAG9,SPAG9,SPAG9,SPAG9 EXON Missense_V872L,Missense_V1029L,Missense_V1015L,Missense_V1019L exm1337628 17 49064530 [T/G] NM_001251971,NM_001130528,NM_003971,NM_001130527 SPAG9,SPAG9,SPAG9,SPAG9 EXON Missense_E804A,Missense_E961A,Missense_E947A,Missense_E951A exm1337633 17 49067161 [T/C] NM_001251971,NM_001130528,NM_003971,NM_001130527 SPAG9,SPAG9,SPAG9,SPAG9 EXON Missense_G740E,Missense_G897E,Missense_G883E,Missense_G887E exm1337637 17 49067846 [A/G] NM_001251971,NM_001130528,NM_003971,NM_001130527 SPAG9,SPAG9,SPAG9,SPAG9 EXON Missense_T704I,Missense_T861I,Missense_T847I,Missense_T851I exm1337652 17 49071230 [A/G] NM_001251971,NM_001130528,NM_003971,NM_001130527 SPAG9,SPAG9,SPAG9,SPAG9 EXON Missense_H608Y,Missense_H765Y,Missense_H751Y,Missense_H755Y exm1337658 17 49072464 [T/C] NM_001251971,NM_001130528,NM_003971,NM_001130527 SPAG9,SPAG9,SPAG9,SPAG9 EXON Missense_R570Q,Missense_R727Q,Missense_R713Q,Missense_R717Q exm1337663 17 49072842 [T/C] NM_001251971,NM_001130528,NM_003971,NM_001130527 SPAG9,SPAG9,SPAG9,SPAG9 EXON Missense_Y517C,Missense_Y674C,Missense_Y660C,Missense_Y664C exm1337670 17 49075832 [T/G] NM_001251971,NM_001130528,NM_003971,NM_001130527 SPAG9,SPAG9,SPAG9,SPAG9 EXON Missense_S447Y,Missense_S604Y,Missense_S590Y,Missense_S594Y exm1337683 17 49083470 [T/C] NM_001251971,NM_001130528,NM_003971,NM_001130527 SPAG9,SPAG9,SPAG9,SPAG9 EXON Missense_R310K,Missense_R467K,Missense_R453K,Missense_R453K exm2253069 17 49091612 [A/G] NM_001251971,NM_001130528,NM_003971,NM_001130527 SPAG9,SPAG9,SPAG9,SPAG9 EXON Synonymous_D241D,Synonymous_D398D,Synonymous_D384D,Synonymous_D384D exm1337697 17 49098590 [A/G] NM_001251971,NM_001130528,NM_003971,NM_001130527 SPAG9,SPAG9,SPAG9,SPAG9 EXON Missense_A150V,Missense_A307V,Missense_A293V,Missense_A293V exm1337698 17 49098593 [T/G] NM_001251971,NM_001130528,NM_003971,NM_001130527 SPAG9,SPAG9,SPAG9,SPAG9 EXON Missense_D149A,Missense_D306A,Missense_D292A,Missense_D292A exm1337702 17 49098662 [A/G] NM_001251971,NM_001130528,NM_003971,NM_001130527 SPAG9,SPAG9,SPAG9,SPAG9 EXON Missense_S126L,Missense_S283L,Missense_S269L,Missense_S269L exm1337704 17 49098669 [T/C] NM_001251971,NM_001130528,NM_003971,NM_001130527 SPAG9,SPAG9,SPAG9,SPAG9 EXON Missense_A124T,Missense_A281T,Missense_A267T,Missense_A267T exm1337712 17 49118864 [T/G] NM_001251971,NM_001130528,NM_003971,NM_001130527 SPAG9,SPAG9,SPAG9,SPAG9 EXON Missense_K104Q,Missense_K247Q,Missense_K247Q,Missense_K247Q exm1337714 17 49118876 [C/G] NM_001251971,NM_001130528,NM_003971,NM_001130527 SPAG9,SPAG9,SPAG9,SPAG9 EXON Missense_H100D,Missense_H243D,Missense_H243D,Missense_H243D exm1337723 17 49124745 [T/C] NM_001130528,NM_003971,NM_001130527 SPAG9,SPAG9,SPAG9 EXON Missense_S194N,Missense_S194N,Missense_S194N exm2253070 17 49217617 [A/C] exm1337741 17 49233067 [T/C] NR_037149,NM_001018136,NM_000269,NM_198175 NME1-NME2,NME1-NME2,NME1,NME1 EXON Silent,Missense_R18W,Missense_R18W,Missense_R43W exm1337755 17 49238549 [T/C] NR_037149,NM_001018136,NM_000269,NM_198175 NME1-NME2,NME1-NME2,NME1,NME1 EXON Silent,Missense_T86M,Missense_T86M,Missense_T111M exm2226723 17 49238605 [T/C] NR_037149,NM_001018136,NM_000269,NM_198175 NME1-NME2,NME1-NME2,NME1,NME1 EXON Silent,Missense_R105C,Missense_R105C,Missense_R130C exm1337760 17 49239143 [T/G] NR_037149,NM_001018136,NM_000269,NM_198175 NME1-NME2,NME1-NME2,NME1,NME1 EXON Silent,Silent,Missense_L132F,Missense_L157F exm1337762 17 49239201 [C/G] NR_037149,NM_001018136,NM_000269,NM_198175 NME1-NME2,NME1-NME2,NME1,NME1 EXON Silent,Silent,Missense_E152Q,Missense_E177Q exm-rs4605213 17 49244747 [G/C] NR_037149,NM_001018136,NM_001018137,NM_002512,NM_001198682,NM_001018139,NM_001018138 NME1-NME2,NME1-NME2,NME2,NME2,NME2,NME2,NME2 Silent,Silent,Silent,Silent,Silent,Silent,Silent exm1337771 17 49245648 [T/C] NR_037149,NM_001018136,NM_001018137,NM_002512,NM_001198682,NM_001018139,NM_001018138 NME1-NME2,NME1-NME2,NME2,NME2,NME2,NME2,NME2 EXON Silent,Nonsense_R173X,Nonsense_R58X,Nonsense_R58X,Nonsense_R58X,Nonsense_R58X,Nonsense_R58X exm1337776 17 49248866 [T/C] NR_037149,NM_001018136,NM_001018137,NM_002512,NM_001198682,NM_001018139,NM_001018138 NME1-NME2,NME1-NME2,NME2,NME2,NME2,NME2,NME2 EXON Silent,Synonymous_S235S,Synonymous_S120S,Synonymous_S120S,Missense_X83R,Synonymous_S120S,Synonymous_S120S exm1337792 17 49270355 [T/C] NM_017643 MBTD1 EXON Missense_R493H exm1337815 17 49281211 [G/C] NM_017643 MBTD1 EXON Missense_S227C exm1337850 17 49343560 [A/G] NM_016001 UTP18 EXON Missense_N158S exm1337853 17 49346248 [A/G] NM_016001 UTP18 EXON Missense_R202Q exm1337866 17 49357458 [A/G] NM_016001 UTP18 EXON Missense_A369T exm1892988 17 49362617 [A/G] NM_016001 UTP18 EXON Missense_V406I exm1337871 17 49362681 [A/G] NM_016001 UTP18 EXON Missense_Y427C exm1337873 17 49365500 [T/C] NM_016001 UTP18 EXON Missense_T480I exm1337877 17 49371294 [A/G] NM_016001 UTP18 EXON Missense_N512D exm2260669 17 49446154 [A/G] exm-rs9635759 17 49613785 [A/G] exm1337889 17 49710908 [T/C] NM_001082533,NM_020178,NM_001082534 CA10,CA10,CA10 EXON Missense_R298H,Missense_R298H,Missense_R298H exm1337908 17 49726584 [T/C] NM_001082533,NM_020178,NM_001082534 CA10,CA10,CA10 EXON Missense_R198Q,Missense_R198Q,Missense_R198Q exm1893031 17 49726596 [C/G] NM_001082533,NM_020178,NM_001082534 CA10,CA10,CA10 EXON Missense_P194R,Missense_P194R,Missense_P194R exm2253071 17 49738719 [T/G] NM_001082533,NM_020178,NM_001082534 CA10,CA10,CA10 Silent,Silent,Silent exm1337922 17 50008372 [T/C] NM_001082533,NM_020178,NM_001082534 CA10,CA10,CA10 EXON Missense_R86H,Missense_R86H,Missense_R86H exm1893054 17 50008406 [A/G] NM_001082533,NM_020178,NM_001082534 CA10,CA10,CA10 EXON Missense_H75Y,Missense_H75Y,Missense_H75Y exm2260671 17 50203816 [A/G] NM_001082533,NM_020178,NM_001082534 CA10,CA10,CA10 Silent,Silent,Silent exm1337938 17 50235101 [T/C] NM_001082533,NM_020178,NM_001082534 CA10,CA10,CA10 EXON Missense_I16V,Missense_I16V,Missense_I16V exm2272529 17 50474108 [T/C] exm2272594 17 51235062 [T/C] exm-rs8073783 17 51237941 [T/C] exm2272595 17 51516940 [T/C] exm2272531 17 51529139 [T/C] exm1337954 17 51900500 [T/C] NM_032559 KIF2B EXON Missense_R36C exm2226758 17 51900590 [A/C] NM_032559 KIF2B EXON Missense_K66Q exm1337962 17 51900666 [T/C] NM_032559 KIF2B EXON Missense_P91L exm1337967 17 51900729 [T/C] NM_032559 KIF2B EXON Missense_A112V exm1337970 17 51900780 [A/G] NM_032559 KIF2B EXON Missense_D129G exm1337974 17 51900836 [T/C] NM_032559 KIF2B EXON Missense_P148S exm1337975 17 51900842 [T/C] NM_032559 KIF2B EXON Missense_L150F exm2226759 17 51900888 [A/G] NM_032559 KIF2B EXON Missense_R165Q exm1337981 17 51900896 [A/C] NM_032559 KIF2B EXON Missense_Q168K exm1337984 17 51900923 [A/G] NM_032559 KIF2B EXON Missense_D177N exm1337987 17 51900987 [T/C] NM_032559 KIF2B EXON Missense_L198P exm1337991 17 51901045 [G/C] NM_032559 KIF2B EXON Missense_C217W exm1337997 17 51901154 [T/G] NM_032559 KIF2B EXON Missense_D254Y exm1337998 17 51901163 [T/C] NM_032559 KIF2B EXON Missense_R257C exm1338000 17 51901223 [A/G] NM_032559 KIF2B EXON Missense_E277K exm1338012 17 51901338 [A/G] NM_032559 KIF2B EXON Missense_G315E exm1338018 17 51901425 [T/C] NM_032559 KIF2B EXON Missense_T344I exm1338021 17 51901479 [A/G] NM_032559 KIF2B EXON Missense_G362D exm1338023 17 51901503 [C/G] NM_032559 KIF2B EXON Missense_W370S exm1338026 17 51901553 [A/G] NM_032559 KIF2B EXON Missense_V387I exm1338031 17 51901643 [T/C] NM_032559 KIF2B EXON Missense_P417S exm2274960 17 51901676 [A/G] NM_032559 KIF2B EXON Missense_V428M exm1338036 17 51901703 [C/G] NM_032559 KIF2B EXON Missense_R437G exm1338043 17 51901797 [A/G] NM_032559 KIF2B EXON Missense_G468E exm1338044 17 51901858 [A/C] NM_032559 KIF2B EXON Missense_N488K exm1338049 17 51901905 [A/G] NM_032559 KIF2B EXON Missense_R504Q exm1338058 17 51902116 [T/G] NM_032559 KIF2B EXON Missense_M574I exm1338068 17 51902312 [T/C] NM_032559 KIF2B EXON Missense_R640W exm2226760 17 51902333 [A/C] NM_032559 KIF2B EXON Missense_Q647K exm2272532 17 52381288 [T/C] exm2260675 17 52745045 [T/C] exm1338112 17 52991116 [A/C] NM_005486 TOM1L1 EXON Nonsense_S127X exm1338117 17 52991226 [A/G] NM_005486 TOM1L1 EXON Missense_R164G exm1338131 17 52993174 [T/C] NM_005486 TOM1L1 EXON Missense_M224T exm2272533 17 53001456 [T/C] NM_005486 TOM1L1 Silent exm1338138 17 53014009 [A/G] NM_005486 TOM1L1 Silent exm1338149 17 53016293 [T/C] NM_005486 TOM1L1 EXON Missense_L348F exm1338152 17 53016381 [T/C] NM_005486 TOM1L1 EXON Missense_P377L exm1893419 17 53016382 [A/G] NM_005486 TOM1L1 Silent exm1338155 17 53026936 [C/G] NM_005486 TOM1L1 EXON Missense_A414P exm1338164 17 53037944 [T/C] NM_005486,NR_027941,NR_027942 TOM1L1,COX11,COX11 EXON Missense_I463T,Silent,Silent exm1338190 17 53045947 [A/G] NR_027941,NR_027942,NM_001162862,NM_001162861,NM_004375 COX11,COX11,COX11,COX11,COX11 EXON Silent,Silent,Missense_H21Y,Missense_H21Y,Missense_H21Y exm2226765 17 53046176 [T/G] NM_178509 STXBP4 EXON Silent exm1338205 17 53076722 [T/C] NM_178509 STXBP4 EXON Missense_P66L exm1338209 17 53076799 [A/G] NM_178509 STXBP4 EXON Missense_G92R exm1338220 17 53077132 [T/C] NM_178509 STXBP4 EXON Missense_P143S exm1338221 17 53077141 [A/G] NM_178509 STXBP4 EXON Missense_I146V exm1338233 17 53111608 [A/G] NM_178509 STXBP4 EXON Missense_I281M exm1338247 17 53155537 [C/G] NM_178509 STXBP4 EXON Missense_K429N exm1338256 17 53158524 [A/G] NM_178509 STXBP4 EXON Missense_R490H exm1338297 17 53398146 [T/C] NM_002126 HLF EXON Missense_S265L exm1338304 17 53471886 [C/G] NM_012329 MMD EXON Missense_D176H exm2272534 17 53485186 [T/C] NM_012329 MMD Silent exm2260676 17 53785504 [T/C] exm1338329 17 53798140 [A/G] NM_018286,NM_001099640 TMEM100,TMEM100 EXON Missense_F98L,Missense_F98L exm1338333 17 53798215 [T/C] NM_018286,NM_001099640 TMEM100,TMEM100 EXON Missense_A73T,Missense_A73T exm1338352 17 53844708 [T/C] NM_021213,NM_001102402 PCTP,PCTP EXON Missense_Y52H,Silent exm1338354 17 53844742 [A/G] NM_021213,NM_001102402 PCTP,PCTP EXON Missense_C63Y,Silent exm1338355 17 53844769 [A/G] NM_021213,NM_001102402 PCTP,PCTP EXON Missense_Y72C,Silent exm1338359 17 53844814 [T/G] NM_021213,NM_001102402 PCTP,PCTP Silent,Silent exm1338362 17 53848490 [A/G] NM_021213,NM_001102402 PCTP,PCTP EXON Missense_G95R,Missense_G23R exm1338363 17 53848515 [T/G] NM_021213,NM_001102402 PCTP,PCTP EXON Missense_V103G,Missense_V31G exm1338364 17 53848546 [T/C] NM_021213,NM_001102402 PCTP,PCTP EXON Synonymous_D113D,Synonymous_D41D exm1338369 17 53851133 [T/A] NM_021213,NM_001102402 PCTP,PCTP EXON Missense_I130F,Missense_I58F exm1338373 17 53851196 [T/C] NM_021213,NM_001102402 PCTP,PCTP EXON Missense_R151W,Missense_R79W exm1893607 17 53852185 [T/C] NM_021213,NM_001102402 PCTP,PCTP EXON Nonsense_Q182X,Nonsense_Q110X exm1893608 17 53852206 [A/G] NM_021213,NM_001102402 PCTP,PCTP EXON Missense_N189D,Missense_N117D exm2268010 17 54167604 [A/G] exm-rs1431318 17 54192523 [A/G] exm-rs8065311 17 54203360 [T/G] exm-rs1019238 17 54278715 [A/G] NM_153228 ANKFN1 Silent exm2226783 17 54305317 [A/G] NM_153228 ANKFN1 EXON Missense_I21V exm1338397 17 54305318 [A/T] NM_153228 ANKFN1 EXON Missense_I21K exm1338398 17 54305319 [T/G] NM_153228 ANKFN1 Silent exm1338406 17 54403682 [A/G] NM_153228 ANKFN1 EXON Missense_T55A exm1338409 17 54428147 [T/C] NM_153228 ANKFN1 EXON Missense_T73M exm1338413 17 54428188 [T/C] NM_153228 ANKFN1 EXON Missense_H87Y exm2272535 17 54429257 [T/C] NM_153228 ANKFN1 Silent exm-rs12449568 17 54430155 [T/C] NM_153228 ANKFN1 Silent exm1338421 17 54431220 [A/G] NM_153228 ANKFN1 EXON Missense_M141I exm1338422 17 54431242 [T/G] NM_153228 ANKFN1 EXON Missense_D149Y exm1338427 17 54431314 [A/G] NM_153228 ANKFN1 EXON Missense_E173K exm1338435 17 54450174 [T/C] NM_153228 ANKFN1 EXON Missense_R260C exm1338437 17 54452037 [A/C] NM_153228 ANKFN1 EXON Missense_P294H exm1338439 17 54452063 [A/T] NM_153228 ANKFN1 EXON Missense_T303S exm1338448 17 54520268 [T/C] NM_153228 ANKFN1 EXON Missense_T361M exm1338450 17 54520282 [T/G] NM_153228 ANKFN1 EXON Missense_A366S exm1338456 17 54526545 [A/G] NM_153228 ANKFN1 EXON Missense_R405Q exm2253090 17 54534268 [A/G] NM_153228 ANKFN1 EXON Synonymous_R421R exm1338461 17 54534634 [A/G] NM_153228 ANKFN1 EXON Missense_V445I exm1338464 17 54535266 [A/G] NM_153228 ANKFN1 EXON Missense_I498V exm1338469 17 54543772 [A/G] NM_153228 ANKFN1 EXON Missense_R541Q exm1338470 17 54543825 [T/G] NM_153228 ANKFN1 EXON Missense_F559V exm1893702 17 54558123 [A/G] NM_153228 ANKFN1 EXON Missense_E682K exm1338485 17 54559801 [A/G] NM_153228 ANKFN1 EXON Missense_D729N exm2268050 17 54588899 [A/G] exm-rs17760296 17 54615617 [T/G] exm1338500 17 54672032 [T/G] NM_005450 NOG EXON Missense_W150G exm-rs227731 17 54773238 [T/G] exm-rs227724 17 54778817 [T/A] exm-rs4794665 17 54850329 [A/G] exm1338509 17 54872439 [T/C] NM_001085430 C17orf67 EXON Missense_I87V exm1338510 17 54872480 [T/C] NM_001085430 C17orf67 EXON Nonsense_W73X exm1338519 17 54892279 [T/C] NM_001085430 C17orf67 EXON Missense_R36Q exm1338520 17 54892280 [A/G] NM_001085430 C17orf67 EXON Missense_R36W exm1338536 17 54912191 [T/C] NM_003647 DGKE EXON Missense_P12L exm1338557 17 54912594 [T/C] NM_003647 DGKE EXON Synonymous_G146G exm1338565 17 54923052 [T/C] NM_003647 DGKE EXON Missense_L209P exm1338568 17 54923139 [A/G] NM_003647 DGKE EXON Missense_G238E exm1338578 17 54926134 [A/G] NM_003647 DGKE EXON Nonsense_W322X exm1338593 17 54933928 [A/G] NM_003647 DGKE EXON Missense_N385S exm1338607 17 54940127 [A/G] NM_003647 DGKE EXON Missense_Q560R exm1338614 17 54969171 [T/C] NM_005082 TRIM25 EXON Missense_D595N exm1338631 17 54969585 [T/C] NM_005082 TRIM25 EXON Missense_I457V exm1338638 17 54972920 [T/G] NM_005082 TRIM25 EXON Missense_P409Q exm1338641 17 54972964 [A/G] NM_005082 TRIM25 EXON Synonymous_P394P exm1338643 17 54973287 [A/G] NM_005082 TRIM25 EXON Missense_P394S exm2277123 17 54976497 [A/G] NM_005082 TRIM25 EXON Missense_R378C exm1338652 17 54978807 [A/G] NM_005082 TRIM25 EXON Missense_R354W exm1338666 17 54981783 [T/C] NM_005082 TRIM25 EXON Missense_A254T exm1338675 17 54990784 [A/G] NM_005082 TRIM25 EXON Missense_A189V exm1338677 17 54990797 [T/C] NM_005082 TRIM25 EXON Missense_T185A exm1338678 17 54990800 [T/C] NM_005082 TRIM25 EXON Missense_K184E exm1338684 17 54990964 [T/G] NM_005082 TRIM25 EXON Missense_E129A exm1338705 17 55023857 [T/C] NM_004645 COIL EXON Missense_S502G exm1338710 17 55027115 [A/G] NM_004645 COIL EXON Missense_T456I exm1338715 17 55027267 [A/G] NM_004645 COIL EXON Missense_S446P exm1338716 17 55027279 [T/C] NM_004645 COIL EXON Missense_V442M exm1338743 17 55027965 [T/C] NM_004645 COIL EXON Missense_N213S exm1338749 17 55028010 [T/C] NM_004645 COIL EXON Missense_K198R exm1338755 17 55028170 [T/C] NM_004645 COIL EXON Missense_V145I exm1338757 17 55028184 [T/C] NM_004645 COIL EXON Missense_N140S exm1338760 17 55028242 [T/C] NM_004645 COIL EXON Missense_E121K exm1338782 17 55055527 [G/C] NM_021626 SCPEP1 EXON Missense_L3V exm1338790 17 55058558 [A/C] NM_021626 SCPEP1 EXON Missense_N64K exm1338793 17 55062742 [A/G] NM_021626 SCPEP1 EXON Missense_G77S exm1893830 17 55065622 [A/G] NM_021626 SCPEP1 EXON Missense_A173T exm1338812 17 55065650 [A/T] NM_021626 SCPEP1 EXON Missense_K182M exm1338815 17 55068494 [T/C] NM_021626 SCPEP1 EXON Missense_A194V exm1338828 17 55072989 [T/C] NM_021626 SCPEP1 EXON Missense_I260T exm1338832 17 55075749 [A/G] NM_021626 SCPEP1 EXON Missense_C295Y exm1338839 17 55078270 [T/C] NM_021626 SCPEP1 EXON Missense_I350T exm1338849 17 55079475 [A/G] NM_021626 SCPEP1 EXON Missense_E410G exm1338859 17 55182878 [T/C] NM_003488,NM_001242903,NM_001242902 AKAP1,AKAP1,AKAP1 EXON Missense_A18V,Missense_A18V,Missense_A18V exm1338860 17 55182923 [T/G] NM_003488,NM_001242903,NM_001242902 AKAP1,AKAP1,AKAP1 EXON Missense_V33G,Missense_V33G,Missense_V33G exm1338864 17 55183003 [A/G] NM_003488,NM_001242903,NM_001242902 AKAP1,AKAP1,AKAP1 EXON Missense_V60M,Missense_V60M,Missense_V60M exm1338869 17 55183195 [T/C] NM_003488,NM_001242903,NM_001242902 AKAP1,AKAP1,AKAP1 EXON Missense_R124C,Missense_R124C,Missense_R124C exm1338870 17 55183196 [T/G] NM_003488,NM_001242903,NM_001242902 AKAP1,AKAP1,AKAP1 EXON Missense_R124L,Missense_R124L,Missense_R124L exm1338878 17 55183393 [T/C] NM_003488,NM_001242903,NM_001242902 AKAP1,AKAP1,AKAP1 EXON Missense_R190C,Missense_R190C,Missense_R190C exm1338883 17 55183477 [A/G] NM_003488,NM_001242903,NM_001242902 AKAP1,AKAP1,AKAP1 EXON Missense_A218T,Missense_A218T,Missense_A218T exm1338897 17 55183696 [A/G] NM_003488,NM_001242903,NM_001242902 AKAP1,AKAP1,AKAP1 EXON Missense_A291T,Missense_A291T,Missense_A291T exm1893863 17 55183750 [A/G] NM_003488,NM_001242903,NM_001242902 AKAP1,AKAP1,AKAP1 EXON Missense_S309G,Missense_S309G,Missense_S309G exm1338916 17 55183946 [A/G] NM_003488,NM_001242903,NM_001242902 AKAP1,AKAP1,AKAP1 EXON Missense_R374H,Missense_R374H,Missense_R374H exm1893866 17 55184066 [C/G] NM_003488,NM_001242903,NM_001242902 AKAP1,AKAP1,AKAP1 EXON Missense_P414R,Missense_P414R,Missense_P414R exm1338931 17 55184387 [T/C] NM_003488,NM_001242903,NM_001242902 AKAP1,AKAP1,AKAP1 EXON Missense_T521I,Missense_T521I,Missense_T521I exm1338936 17 55184494 [T/G] NM_003488,NM_001242903,NM_001242902 AKAP1,AKAP1,AKAP1 EXON Missense_A557S,Missense_A557S,Missense_A557S exm1338945 17 55189264 [A/G] NM_003488,NM_001242903,NM_001242902 AKAP1,AKAP1,AKAP1 EXON Missense_V652I,Missense_V652I,Missense_V652I exm1338949 17 55189893 [A/C] NM_003488,NM_001242903,NM_001242902 AKAP1,AKAP1,AKAP1 EXON Missense_K673Q,Missense_K673Q,Missense_K673Q exm1338952 17 55189929 [A/G] NM_003488,NM_001242903,NM_001242902 AKAP1,AKAP1,AKAP1 EXON Missense_A685T,Missense_A685T,Missense_A685T exm1338955 17 55189972 [T/C] NM_003488,NM_001242903,NM_001242902 AKAP1,AKAP1,AKAP1 EXON Missense_T699I,Missense_T699I,Missense_T699I exm1338976 17 55194252 [A/G] NM_003488,NM_001242903,NM_001242902 AKAP1,AKAP1,AKAP1 EXON Missense_A822T,Missense_A822T,Missense_A822T exm1338981 17 55195780 [A/G] NM_003488,NM_001242903,NM_001242902 AKAP1,AKAP1,AKAP1 EXON Missense_S847G,Missense_S847G,Missense_S847G exm2253093 17 55264833 [A/G] exm2260678 17 55356209 [T/C] NM_138962,NM_170721 MSI2,MSI2 Silent,Silent exm-rs792376 17 55438556 [A/G] NM_138962,NM_170721 MSI2,MSI2 Silent,Silent exm1339055 17 55752446 [A/G] NM_138962 MSI2 EXON Missense_A302T exm1339057 17 55752473 [A/G] NM_138962 MSI2 EXON Missense_G311S exm-rs7211655 17 55855595 [A/G] exm2272537 17 55916641 [T/G] NM_016070 MRPS23 EXON Silent exm2253095 17 55917177 [A/G] NM_016070 MRPS23 EXON Synonymous_P180P exm2253096 17 55918299 [A/G] NM_016070 MRPS23 EXON Synonymous_G136G exm1893950 17 55918596 [T/C] NM_016070 MRPS23 EXON Missense_G81S exm1339091 17 55926640 [T/G] NM_016070 MRPS23 EXON Missense_P59H exm1339092 17 55926650 [T/C] NM_016070 MRPS23 EXON Missense_A56T exm1339104 17 55927369 [T/C] NM_016070 MRPS23 EXON Missense_M1I exm1339110 17 55944723 [A/G] NM_001271875,NR_073495 CUEDC1,CUEDC1 EXON Missense_A363V,Silent exm1339118 17 55945598 [T/C] NM_001271875,NR_073495 CUEDC1,CUEDC1 EXON Missense_R316Q,Silent exm2253097 17 55950109 [A/G] NM_001271875,NR_073495 CUEDC1,CUEDC1 EXON Synonymous_D233D,Silent exm2226809 17 55950195 [A/G] NM_001271875,NR_073495 CUEDC1,CUEDC1 EXON Missense_P205S,Silent exm1339144 17 55951037 [T/C] NM_001271875,NR_073495 CUEDC1,CUEDC1 EXON Missense_R169H,Silent exm1339147 17 55951070 [A/G] NM_001271875,NR_073495 CUEDC1,CUEDC1 EXON Missense_A158V,Silent exm1339156 17 55957058 [G/C] NM_001271875,NR_073495 CUEDC1,CUEDC1 EXON Missense_E126D,Silent exm1339157 17 55957068 [A/G] NM_001271875,NR_073495 CUEDC1,CUEDC1 EXON Missense_S123L,Silent exm-rs8074980 17 56010960 [A/G] NM_001271875 CUEDC1 Silent exm2260679 17 56083934 [A/G] NM_001078166,NM_006924,NR_034041 SRSF1,SRSF1,SRSF1 Silent,Silent,Silent exm1339266 17 56232675 [A/G] NM_012374 OR4D1 EXON Missense_R54Q exm1339267 17 56232719 [A/G] NM_012374 OR4D1 EXON Missense_I69V exm1339274 17 56232898 [T/G] NM_012374 OR4D1 EXON Missense_Q128H exm1339280 17 56232977 [T/C] NM_012374 OR4D1 EXON Missense_H155Y exm1339282 17 56233034 [A/C] NM_012374 OR4D1 EXON Missense_L174I exm1339283 17 56233042 [A/C] NM_012374 OR4D1 EXON Missense_N176K exm1339285 17 56233164 [T/C] NM_012374 OR4D1 EXON Missense_S217F exm1339296 17 56233428 [T/C] NM_012374 OR4D1 EXON Missense_L305P exm1339301 17 56247029 [A/G] NM_001004707 OR4D2 EXON Missense_N5D exm1339307 17 56247101 [A/C] NM_001004707 OR4D2 EXON Missense_L29I exm1339309 17 56247129 [T/C] NM_001004707 OR4D2 EXON Missense_T38I exm1339311 17 56247206 [T/C] NM_001004707 OR4D2 EXON Nonsense_R64X exm1339315 17 56247306 [C/G] NM_001004707 OR4D2 EXON Missense_C97S exm1339330 17 56247575 [T/C] NM_001004707 OR4D2 EXON Missense_L187F exm1339332 17 56247641 [A/G] NM_001004707 OR4D2 EXON Missense_V209I exm1339333 17 56247650 [T/C] NM_001004707 OR4D2 EXON Missense_F212L exm1339335 17 56247722 [T/G] NM_001004707 OR4D2 EXON Missense_A236S exm1339339 17 56247803 [A/G] NM_001004707 OR4D2 EXON Missense_T263A exm1339340 17 56247813 [T/C] NM_001004707 OR4D2 EXON Missense_P266L exm1339344 17 56247885 [A/G] NM_001004707 OR4D2 EXON Missense_R290K exm1339355 17 56270425 [A/G] NM_000502 EPX EXON Missense_V35I exm1339357 17 56270438 [A/G] NM_000502 EPX EXON Missense_C39Y exm1339358 17 56270442 [A/G] NM_000502 EPX EXON Missense_I40M exm1339364 17 56270743 [A/G] NM_000502 EPX EXON Missense_R61Q exm1339380 17 56271094 [C/G] NM_000502 EPX EXON Missense_Q122H exm1339387 17 56271164 [T/C] NM_000502 EPX EXON Missense_R146C exm1339388 17 56271165 [A/G] NM_000502 EPX EXON Missense_R146H exm1339402 17 56272353 [A/G] NM_000502 EPX EXON Missense_R208H exm1339414 17 56272455 [T/C] NM_000502 EPX EXON Missense_P242L exm2226814 17 56272476 [A/C] NM_000502 EPX EXON Missense_A249E exm1339417 17 56272501 [A/C] NM_000502 EPX EXON Nonsense_C257X exm2226815 17 56274325 [A/G] NM_000502 EPX EXON Missense_K276R exm1894074 17 56274334 [A/G] NM_000502 EPX EXON Missense_R279H exm1339423 17 56274355 [A/G] NM_000502 EPX EXON Missense_R286H exm1339425 17 56274373 [T/C] NM_000502 EPX EXON Missense_P292L exm1339428 17 56274393 [T/C] NM_000502 EPX EXON Missense_R299C exm1339432 17 56274420 [T/C] NM_000502 EPX EXON Missense_F308L exm1339436 17 56274468 [T/C] NM_000502 EPX EXON Missense_R324W exm1339439 17 56274516 [T/C] NM_000502 EPX EXON Missense_R340C exm1339440 17 56274517 [A/G] NM_000502 EPX EXON Missense_R340H exm1894078 17 56274534 [T/C] NM_000502 EPX EXON Missense_R346W exm2226817 17 56274571 [T/C] NM_000502 EPX EXON Missense_P358L exm1339444 17 56274589 [A/G] NM_000502 EPX EXON Missense_R364H exm2226818 17 56274598 [A/G] NM_000502 EPX EXON Missense_R367H exm1339448 17 56276470 [A/G] NM_000502 EPX EXON Missense_R397Q exm1339457 17 56276546 [A/G] NM_000502 EPX EXON Missense_M422I exm1339469 17 56277030 [A/G] NM_000502 EPX EXON Missense_R471H exm1339475 17 56277106 [A/T] NM_000502 EPX EXON Missense_H496Q exm1339479 17 56277146 [A/G] NM_000502 EPX EXON Missense_V510M exm1339484 17 56277676 [A/G] NM_000502 EPX EXON Missense_R543Q exm1339485 17 56277684 [T/C] NM_000502 EPX EXON Missense_R546W exm1339487 17 56280447 [T/A] NM_000502 EPX EXON Missense_N572Y exm1339490 17 56280497 [C/G] NM_000502 EPX EXON Missense_Q588H exm1339491 17 56280505 [A/G] NM_000502 EPX EXON Missense_R591Q exm1339492 17 56280529 [T/C] NM_000502 EPX EXON Missense_A599V exm1339502 17 56280667 [A/G] NM_000502 EPX EXON Missense_R645Q exm2274962 17 56280675 [A/G] NM_000502 EPX EXON Missense_D648N exm1339506 17 56281624 [A/G] NM_000502 EPX EXON Missense_R663H exm1339509 17 56281674 [A/G] NM_000502 EPX EXON Missense_G680S exm1339512 17 56281708 [T/C] NM_000502 EPX EXON Missense_A691V exm1339531 17 56283688 [A/C] NM_001165927,NM_017777 MKS1,MKS1 EXON Missense_R505L,Missense_R515L exm1339534 17 56283734 [T/C] NM_001165927,NM_017777 MKS1,MKS1 EXON Missense_M490V,Missense_M500V exm1339536 17 56283880 [T/C] NM_001165927,NM_017777 MKS1,MKS1 EXON Missense_R469H,Missense_R479H exm2276525 17 56283902 [A/G] NM_001165927,NM_017777 MKS1,MKS1 EXON Missense_R462C,Missense_R472C exm1339538 17 56284465 [T/C] NM_001165927,NM_017777 MKS1,MKS1 EXON Missense_R453Q,Missense_R463Q exm1339539 17 56284490 [C/G] NM_001165927,NM_017777 MKS1,MKS1 EXON Missense_E445Q,Missense_E455Q exm1339541 17 56284504 [A/G] NM_001165927,NM_017777 MKS1,MKS1 EXON Missense_I440T,Missense_I450T exm1339560 17 56289780 [T/C] NM_001165927,NM_017777 MKS1,MKS1 EXON Missense_K282E,Missense_K292E exm1339562 17 56290344 [T/C] NM_001165927,NM_017777 MKS1,MKS1 EXON Missense_D276G,Missense_D286G exm1339574 17 56291720 [T/C] NM_001165927,NM_017777 MKS1,MKS1 EXON Missense_V172I,Missense_V182I exm1339577 17 56292121 [A/G] NM_001165927,NM_017777 MKS1,MKS1 EXON Missense_R156W,Missense_R166W exm1339578 17 56292126 [T/C] NM_001165927,NM_017777 MKS1,MKS1 EXON Missense_R154H,Missense_R164H exm1894132 17 56292196 [A/C] NM_001165927,NM_017777 MKS1,MKS1 EXON Missense_C131G,Missense_C141G exm1339584 17 56293498 [T/C] NM_001165927,NM_017777 MKS1,MKS1 EXON Missense_R113Q,Missense_R123Q exm1339585 17 56293543 [T/C] NM_001165927,NM_017777 MKS1,MKS1 EXON Missense_R98H,Missense_R108H exm1339586 17 56293558 [A/G] NM_001165927,NM_017777 MKS1,MKS1 EXON Missense_L93S,Missense_L103S exm1339591 17 56294075 [G/C] NM_001165927,NM_017777 MKS1,MKS1 EXON Missense_D61E,Missense_D71E exm1339593 17 56294089 [A/G] NM_001165927,NM_017777 MKS1,MKS1 EXON Missense_R57C,Missense_R67C exm1339600 17 56296053 [A/G] NM_001165927,NM_017777 MKS1,MKS1 EXON Missense_H30Y,Missense_H40Y exm1339614 17 56321436 [A/G] NR_027647,NM_006151,NM_001160102 LPO,LPO,LPO EXON Silent,Missense_R53Q,Silent exm1339619 17 56324913 [A/G] NR_027647,NM_006151,NM_001160102 LPO,LPO,LPO EXON Silent,Missense_R80Q,Silent exm1339626 17 56326421 [A/G] NR_027647,NM_006151,NM_001160102 LPO,LPO,LPO EXON Silent,Missense_D109G,Missense_D26G exm1339631 17 56326496 [G/C] NR_027647,NM_006151,NM_001160102 LPO,LPO,LPO EXON Silent,Missense_P134R,Missense_P51R exm1339639 17 56327779 [T/C] NR_027647,NM_006151,NM_001160102 LPO,LPO,LPO EXON Silent,Missense_R193W,Missense_R110W exm1339643 17 56327915 [A/G] NR_027647,NM_006151,NM_001160102 LPO,LPO,LPO EXON Silent,Missense_S238N,Missense_S155N exm2274963 17 56327920 [A/G] NR_027647,NM_006151,NM_001160102 LPO,LPO,LPO EXON Silent,Missense_E240K,Missense_E157K exm1339645 17 56327932 [A/G] NR_027647,NM_006151,NM_001160102 LPO,LPO,LPO EXON Silent,Missense_A244T,Missense_A161T exm1339656 17 56329652 [A/T] NR_027647,NM_006151,NM_001160102 LPO,LPO,LPO EXON Silent,Missense_I297N,Missense_I214N exm1339665 17 56329799 [A/G] NR_027647,NM_006151,NM_001160102 LPO,LPO,LPO EXON Silent,Missense_Y346C,Missense_Y263C exm1339672 17 56332296 [A/C] NR_027647,NM_006151,NM_001160102 LPO,LPO,LPO EXON Silent,Nonsense_Y410X,Nonsense_Y327X exm1339683 17 56343598 [A/G] NR_027647,NM_006151,NM_001160102 LPO,LPO,LPO EXON Silent,Missense_R535H,Missense_R452H exm1339688 17 56344749 [T/C] NR_027647,NM_006151,NM_001160102 LPO,LPO,LPO EXON Silent,Missense_P578L,Missense_P495L exm1339691 17 56344787 [A/G] NR_027647,NM_006151,NM_001160102 LPO,LPO,LPO EXON Silent,Missense_K591E,Missense_K508E exm1339722 17 56348106 [T/C] NM_000250 MPO EXON Missense_I717V exm1339729 17 56348226 [T/G] NM_000250 MPO Silent exm1339733 17 56349029 [A/G] NM_000250 MPO EXON Missense_R673W exm1339738 17 56349062 [T/C] NM_000250 MPO EXON Missense_A662T exm1339743 17 56349122 [T/G] NM_000250 MPO EXON Missense_I642L exm2276526 17 56349128 [A/T] NM_000250 MPO EXON Missense_I640F exm2226825 17 56349236 [A/G] NM_000250 MPO EXON Missense_R604C exm1339752 17 56350195 [T/C] NM_000250 MPO EXON Missense_R569Q exm1339753 17 56350196 [A/G] NM_000250 MPO EXON Missense_R569W exm1339754 17 56350258 [T/C] NM_000250 MPO EXON Missense_R548Q exm1339755 17 56350259 [A/G] NM_000250 MPO EXON Missense_R548W exm1339760 17 56350829 [A/G] NM_000250 MPO EXON Missense_P523S exm1339770 17 56350982 [T/C] NM_000250 MPO EXON Missense_M472V exm1339777 17 56352920 [T/C] NM_000250 MPO EXON Missense_V450M exm1339793 17 56355424 [T/G] NM_000250 MPO EXON Missense_N323T exm1339804 17 56356502 [A/G] NM_000250 MPO EXON Missense_M251T exm1339824 17 56356914 [T/C] NM_000250 MPO EXON Missense_Y173C exm1339846 17 56357737 [A/G] NM_000250 MPO EXON Missense_R80W exm1339850 17 56357803 [T/C] NM_000250 MPO EXON Missense_D58N exm1339853 17 56357818 [A/C] NM_000250 MPO EXON Missense_V53F exm1339871 17 56382477 [T/C] NM_024418,NM_004758,NM_001261835 BZRAP1,BZRAP1,BZRAP1 EXON Missense_G1770E,Missense_G1830E,Missense_G1821E exm2253099 17 56383204 [T/C] NM_024418,NM_004758,NM_001261835 BZRAP1,BZRAP1,BZRAP1 EXON Synonymous_Q1689Q,Synonymous_Q1749Q,Synonymous_Q1740Q exm1339890 17 56383744 [T/C] NM_024418,NM_004758,NM_001261835 BZRAP1,BZRAP1,BZRAP1 EXON Missense_H1668R,Missense_H1728R,Missense_H1719R exm1894241 17 56384217 [T/C] NM_024418,NM_004758,NM_001261835 BZRAP1,BZRAP1,BZRAP1 EXON Missense_R1639K,Missense_R1699K,Missense_R1699K exm1339899 17 56384290 [T/C] NM_024418,NM_004758,NM_001261835 BZRAP1,BZRAP1,BZRAP1 EXON Missense_E1615K,Missense_E1675K,Missense_E1675K exm1339903 17 56384991 [T/C] NM_024418,NM_004758,NM_001261835 BZRAP1,BZRAP1,BZRAP1 EXON Missense_R1595Q,Missense_R1655Q,Missense_R1655Q exm1339906 17 56385086 [G/C] NM_024418,NM_004758,NM_001261835 BZRAP1,BZRAP1,BZRAP1 EXON Missense_Q1563H,Missense_Q1623H,Missense_Q1623H exm1339910 17 56385239 [T/C] NM_024418,NM_004758,NM_001261835 BZRAP1,BZRAP1,BZRAP1 EXON Missense_G1539S,Missense_G1599S,Missense_G1599S exm1339914 17 56385269 [T/C] NM_024418,NM_004758,NM_001261835 BZRAP1,BZRAP1,BZRAP1 EXON Missense_G1529S,Missense_G1589S,Missense_G1589S exm1339915 17 56385284 [G/C] NM_024418,NM_004758,NM_001261835 BZRAP1,BZRAP1,BZRAP1 EXON Missense_A1524P,Missense_A1584P,Missense_A1584P exm1339921 17 56385930 [A/G] NM_024418,NM_004758,NM_001261835 BZRAP1,BZRAP1,BZRAP1 EXON Missense_T1508M,Missense_T1568M,Missense_T1568M exm1339924 17 56385940 [A/G] NM_024418,NM_004758,NM_001261835 BZRAP1,BZRAP1,BZRAP1 EXON Missense_R1505C,Missense_R1565C,Missense_R1565C exm1339930 17 56385997 [A/G] NM_024418,NM_004758,NM_001261835 BZRAP1,BZRAP1,BZRAP1 EXON Missense_P1486S,Missense_P1546S,Missense_P1546S exm1339936 17 56386107 [A/G] NM_024418,NM_004758,NM_001261835 BZRAP1,BZRAP1,BZRAP1 EXON Missense_A1449V,Missense_A1509V,Missense_A1509V exm1339943 17 56386164 [A/G] NM_024418,NM_004758,NM_001261835 BZRAP1,BZRAP1,BZRAP1 EXON Missense_L1430P,Missense_L1490P,Missense_L1490P exm2226829 17 56386468 [T/C] NM_024418,NM_004758,NM_001261835 BZRAP1,BZRAP1,BZRAP1 EXON Missense_A1329T,Missense_A1389T,Missense_A1389T exm1339968 17 56386510 [C/G] NM_024418,NM_004758,NM_001261835 BZRAP1,BZRAP1,BZRAP1 EXON Missense_R1315G,Missense_R1375G,Missense_R1375G exm1894263 17 56386607 [A/G] NM_024418,NM_004758,NM_001261835 BZRAP1,BZRAP1,BZRAP1 EXON Synonymous_D1282D,Synonymous_D1342D,Synonymous_D1342D exm1339982 17 56386722 [T/C] NM_024418,NM_004758,NM_001261835 BZRAP1,BZRAP1,BZRAP1 EXON Missense_C1244Y,Missense_C1304Y,Missense_C1304Y exm1339983 17 56386732 [T/C] NM_024418,NM_004758,NM_001261835 BZRAP1,BZRAP1,BZRAP1 EXON Missense_D1241N,Missense_D1301N,Missense_D1301N exm1339993 17 56387947 [A/G] NM_024418,NM_004758,NM_001261835 BZRAP1,BZRAP1,BZRAP1 EXON Missense_R1149W,Missense_R1209W,Missense_R1209W exm1339999 17 56388021 [T/G] NM_024418,NM_004758,NM_001261835 BZRAP1,BZRAP1,BZRAP1 EXON Missense_P1124H,Missense_P1184H,Missense_P1184H exm1340000 17 56388102 [A/C] NM_024418,NM_004758,NM_001261835 BZRAP1,BZRAP1,BZRAP1 EXON Missense_G1097V,Missense_G1157V,Missense_G1157V exm1340005 17 56388252 [A/G] NM_024418,NM_004758,NM_001261835 BZRAP1,BZRAP1,BZRAP1 EXON Missense_P1075L,Missense_P1135L,Missense_P1135L exm1340029 17 56388951 [A/G] NM_024418,NM_004758,NM_001261835 BZRAP1,BZRAP1,BZRAP1 EXON Missense_I961T,Missense_I1021T,Missense_I1021T exm1340043 17 56389364 [A/G] NM_024418,NM_004758,NM_001261835 BZRAP1,BZRAP1,BZRAP1 EXON Missense_P880S,Missense_P940S,Missense_P940S exm1340044 17 56389376 [A/G] NM_024418,NM_004758,NM_001261835 BZRAP1,BZRAP1,BZRAP1 EXON Missense_R876W,Missense_R936W,Missense_R936W exm1340048 17 56389409 [A/G] NM_024418,NM_004758,NM_001261835 BZRAP1,BZRAP1,BZRAP1 EXON Missense_P865S,Missense_P925S,Missense_P925S exm1340054 17 56389516 [T/C] NM_024418,NM_004758,NM_001261835 BZRAP1,BZRAP1,BZRAP1 EXON Missense_R829Q,Missense_R889Q,Missense_R889Q exm1340058 17 56389613 [T/C] NM_024418,NM_004758,NM_001261835 BZRAP1,BZRAP1,BZRAP1 EXON Missense_I797V,Missense_I857V,Missense_I857V exm1340065 17 56389720 [T/C] NM_024418,NM_004758,NM_001261835 BZRAP1,BZRAP1,BZRAP1 EXON Missense_H761R,Missense_H821R,Missense_H821R exm1340066 17 56389732 [T/C] NM_024418,NM_004758,NM_001261835 BZRAP1,BZRAP1,BZRAP1 EXON Missense_Q757R,Missense_Q817R,Missense_Q817R exm1340074 17 56389821 [A/C] NM_024418,NM_004758,NM_001261835 BZRAP1,BZRAP1,BZRAP1 EXON Missense_E727D,Missense_E787D,Missense_E787D exm1340075 17 56389823 [T/C] NM_024418,NM_004758,NM_001261835 BZRAP1,BZRAP1,BZRAP1 EXON Missense_E727K,Missense_E787K,Missense_E787K exm1340077 17 56389837 [A/G] NM_024418,NM_004758,NM_001261835 BZRAP1,BZRAP1,BZRAP1 EXON Missense_P722L,Missense_P782L,Missense_P782L exm2274964 17 56389864 [T/C] NM_024418,NM_004758,NM_001261835 BZRAP1,BZRAP1,BZRAP1 EXON Missense_G713E,Missense_G773E,Missense_G773E exm1340080 17 56389919 [T/C] NM_024418,NM_004758,NM_001261835 BZRAP1,BZRAP1,BZRAP1 EXON Missense_G695R,Missense_G755R,Missense_G755R exm1340089 17 56393814 [T/C] NM_024418,NM_004758,NM_001261835 BZRAP1,BZRAP1,BZRAP1 EXON Missense_R594G,Missense_R654G,Missense_R654G exm1340093 17 56393840 [G/C] NM_024418,NM_004758,NM_001261835 BZRAP1,BZRAP1,BZRAP1 EXON Missense_A585G,Missense_A645G,Missense_A645G exm1340102 17 56395757 [T/C] NM_024418,NM_004758,NM_001261835 BZRAP1,BZRAP1,BZRAP1 EXON Missense_A526T,Missense_A586T,Missense_A586T exm1340112 17 56396574 [A/G] NM_024418,NM_004758,NM_001261835 BZRAP1,BZRAP1,BZRAP1 EXON Missense_R466C,Missense_R526C,Missense_R526C exm1340114 17 56396609 [T/C] NM_024418,NM_004758,NM_001261835 BZRAP1,BZRAP1,BZRAP1 EXON Missense_Q454R,Missense_Q514R,Missense_Q514R exm1340116 17 56396637 [T/C] NM_024418,NM_004758,NM_001261835 BZRAP1,BZRAP1,BZRAP1 EXON Missense_E445K,Missense_E505K,Missense_E505K exm1340130 17 56397933 [T/C] NM_024418,NM_004758,NM_001261835 BZRAP1,BZRAP1,BZRAP1 EXON Missense_E418K,Missense_E478K,Missense_E478K exm2226832 17 56400068 [A/G] NM_024418,NM_004758,NM_001261835 BZRAP1,BZRAP1,BZRAP1 EXON Missense_R362C,Missense_R422C,Missense_R422C exm1340144 17 56400343 [A/G] NM_024418,NM_004758,NM_001261835 BZRAP1,BZRAP1,BZRAP1 EXON Missense_R328W,Missense_R388W,Missense_R388W exm2226833 17 56400373 [T/C] NM_024418,NM_004758,NM_001261835 BZRAP1,BZRAP1,BZRAP1 EXON Missense_E318K,Missense_E378K,Missense_E378K exm1340168 17 56402969 [T/C] NM_024418,NM_004758,NM_001261835,NR_038410 BZRAP1,BZRAP1,BZRAP1,BZRAP1-AS1 EXON Silent,Missense_A226T,Missense_A226T,Silent exm1340170 17 56403001 [A/C] NM_024418,NM_004758,NM_001261835,NR_038410 BZRAP1,BZRAP1,BZRAP1,BZRAP1-AS1 EXON Silent,Missense_R215L,Missense_R215L,Silent exm1340171 17 56403014 [A/G] NM_024418,NM_004758,NM_001261835,NR_038410 BZRAP1,BZRAP1,BZRAP1,BZRAP1-AS1 EXON Silent,Missense_R211C,Missense_R211C,Silent exm2226834 17 56404073 [T/C] NM_024418,NM_004758,NM_001261835,NR_038410 BZRAP1,BZRAP1,BZRAP1,BZRAP1-AS1 EXON Missense_A138T,Missense_A138T,Missense_A138T,Silent exm1340181 17 56404133 [A/C] NM_024418,NM_004758,NM_001261835,NR_038410 BZRAP1,BZRAP1,BZRAP1,BZRAP1-AS1 EXON Missense_F118V,Missense_F118V,Missense_F118V,Silent exm1340185 17 56404993 [T/C] NM_024418,NM_004758,NM_001261835,NR_038410 BZRAP1,BZRAP1,BZRAP1,BZRAP1-AS1 EXON Missense_A97T,Missense_A97T,Missense_A97T,Silent exm1340189 17 56405046 [T/C] NM_024418,NM_004758,NM_001261835,NR_038410 BZRAP1,BZRAP1,BZRAP1,BZRAP1-AS1 EXON Missense_G79E,Missense_G79E,Missense_G79E,Silent exm1340192 17 56405103 [T/C] NM_024418,NM_004758,NM_001261835,NR_038410 BZRAP1,BZRAP1,BZRAP1,BZRAP1-AS1 EXON Missense_S60N,Missense_S60N,Missense_S60N,Silent exm1340219 17 56429483 [T/G] NR_038410,NR_038411,NR_038412,NR_038413,NR_038418,NR_038414,NR_038415,NR_038416,NR_038417,NR_073470,NM_003168 BZRAP1-AS1,BZRAP1-AS1,BZRAP1-AS1,BZRAP1-AS1,BZRAP1-AS1,BZRAP1-AS1,BZRAP1-AS1,BZRAP1-AS1,BZRAP1-AS1,SUPT4H1,SUPT4H1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_T5K exm2253100 17 56435046 [A/G] NM_017763 RNF43 EXON Synonymous_H697H exm1340241 17 56435083 [T/G] NM_017763 RNF43 EXON Missense_T685N exm1894342 17 56435167 [G/C] NM_017763 RNF43 EXON Missense_R657P exm1340247 17 56435257 [A/G] NM_017763 RNF43 EXON Missense_V627A exm1894343 17 56435312 [A/G] NM_017763 RNF43 EXON Missense_R609W exm1340258 17 56435545 [T/C] NM_017763 RNF43 EXON Missense_R531H exm1340259 17 56435552 [A/G] NM_017763 RNF43 EXON Missense_R529W exm1340274 17 56435885 [T/G] NM_017763 RNF43 EXON Missense_L418M exm1340277 17 56436023 [A/G] NM_017763 RNF43 EXON Missense_P372S exm1340282 17 56436109 [T/C] NM_017763 RNF43 EXON Missense_R343H exm1340284 17 56436127 [T/C] NM_017763 RNF43 EXON Missense_R337Q exm1340285 17 56436130 [T/C] NM_017763 RNF43 EXON Missense_G336D exm1340286 17 56436167 [T/G] NM_017763 RNF43 EXON Missense_Q324K exm1340297 17 56438301 [A/G] NM_017763 RNF43 EXON Missense_P231L exm1340302 17 56439930 [T/C] NM_017763 RNF43 EXON Missense_R221Q exm1340305 17 56439952 [C/G] NM_017763 RNF43 EXON Missense_L214V exm1340309 17 56440643 [A/G] NM_017763 RNF43 EXON Missense_P192L exm1340317 17 56440903 [T/C] NM_017763 RNF43 EXON Missense_R145Q exm1340318 17 56440957 [T/C] NM_017763 RNF43 EXON Missense_R127Q exm1340320 17 56448297 [T/C] NM_017763 RNF43 EXON Missense_R117H exm2253101 17 56456120 [A/G] NM_017763 RNF43 Silent exm1340327 17 56492767 [T/C] NM_017763 RNF43 EXON Missense_T58A exm1340342 17 56536257 [A/G] NM_001080439 HSF5 EXON Missense_P531L exm1894373 17 56540146 [T/G] NM_001080439 HSF5 EXON Missense_H513Q exm1340349 17 56540165 [T/C] NM_001080439 HSF5 EXON Missense_G507E exm1340350 17 56540267 [T/C] NM_001080439 HSF5 EXON Missense_S473N exm1340370 17 56557545 [T/C] NM_001080439 HSF5 EXON Missense_D212N exm1340396 17 56569083 [A/G] NM_004687 MTMR4 EXON Missense_R1177C exm1340414 17 56572427 [A/G] NM_004687 MTMR4 EXON Missense_R1026W exm1340423 17 56572675 [T/C] NM_004687 MTMR4 EXON Missense_R943Q exm1340438 17 56573089 [T/C] NM_004687 MTMR4 EXON Missense_C805Y exm1340443 17 56573275 [G/C] NM_004687 MTMR4 EXON Missense_R743T exm1340444 17 56573371 [T/C] NM_004687 MTMR4 EXON Missense_R711Q exm1340446 17 56573381 [T/C] NM_004687 MTMR4 EXON Missense_A708T exm1340458 17 56581448 [T/G] NM_004687 MTMR4 EXON Missense_N540T exm2226837 17 56581490 [T/C] NM_004687 MTMR4 EXON Missense_R526Q exm1340460 17 56581506 [A/G] NM_004687 MTMR4 EXON Missense_R521C exm2253102 17 56582922 [A/G] NM_004687 MTMR4 EXON Synonymous_V338V exm1340482 17 56584205 [A/C] NM_004687 MTMR4 EXON Missense_V297G exm1340492 17 56585610 [C/G] NM_004687 MTMR4 EXON Missense_L193V exm1340494 17 56585634 [A/G] NM_004687 MTMR4 EXON Synonymous_L185L exm1340503 17 56586149 [T/C] NM_004687 MTMR4 EXON Missense_R116Q exm1340520 17 56597842 [T/C] NM_080416,NM_001256822,NR_037155,NM_004574,NM_080415,NM_001256782,NM_001198713 SEPT4,SEPT4,SEPT4,SEPT4,SEPT4,SEPT4,SEPT4 EXON Missense_R442Q,Missense_R314Q,Silent,Missense_R461Q,Silent,Missense_R476Q,Missense_R453Q exm1340521 17 56598106 [T/C] NM_080416,NM_001256822,NR_037155,NM_004574,NM_080415,NM_001256782,NM_001198713 SEPT4,SEPT4,SEPT4,SEPT4,SEPT4,SEPT4,SEPT4 EXON Missense_E440K,Missense_E312K,Silent,Missense_E459K,Silent,Missense_E474K,Missense_E451K exm1340530 17 56598438 [A/G] NM_080416,NM_001256822,NR_037155,NM_004574,NM_080415,NM_001256782,NM_001198713 SEPT4,SEPT4,SEPT4,SEPT4,SEPT4,SEPT4,SEPT4 EXON Missense_R381W,Missense_R253W,Silent,Missense_R400W,Silent,Missense_R415W,Missense_R392W exm1340536 17 56598656 [T/C] NM_080416,NM_001256822,NR_037155,NM_004574,NM_080415,NM_001256782,NM_001198713 SEPT4,SEPT4,SEPT4,SEPT4,SEPT4,SEPT4,SEPT4 EXON Missense_R339Q,Missense_R211Q,Silent,Missense_R358Q,Silent,Missense_R373Q,Missense_R350Q exm1340542 17 56598991 [T/A] NM_080416,NM_001256822,NR_037155,NM_004574,NM_080415,NM_001256782,NM_001198713 SEPT4,SEPT4,SEPT4,SEPT4,SEPT4,SEPT4,SEPT4 EXON Missense_E292V,Missense_E164V,Silent,Missense_E311V,Silent,Missense_E326V,Missense_E303V exm1340543 17 56598994 [A/G] NM_080416,NM_001256822,NR_037155,NM_004574,NM_080415,NM_001256782,NM_001198713 SEPT4,SEPT4,SEPT4,SEPT4,SEPT4,SEPT4,SEPT4 EXON Missense_I291T,Missense_I163T,Silent,Missense_I310T,Silent,Missense_I325T,Missense_I302T exm1340548 17 56599243 [G/C] NM_080416,NM_001256822,NR_037155,NM_004574,NM_080415,NM_001256782,NM_001198713 SEPT4,SEPT4,SEPT4,SEPT4,SEPT4,SEPT4,SEPT4 EXON Silent,Silent,Silent,Silent,Missense_X275Y,Silent,Silent exm1340550 17 56599278 [T/C] NM_080416,NM_001256822,NR_037155,NM_004574,NM_080415,NM_001256782,NM_001198713 SEPT4,SEPT4,SEPT4,SEPT4,SEPT4,SEPT4,SEPT4 EXON Silent,Silent,Silent,Silent,Missense_T264A,Silent,Silent exm1340563 17 56603083 [A/G] NM_080416,NM_001256822,NR_037155,NM_004574,NM_080415,NM_001256782,NM_001198713 SEPT4,SEPT4,SEPT4,SEPT4,SEPT4,SEPT4,SEPT4 EXON Missense_R152W,Missense_R24W,Silent,Missense_R171W,Missense_R152W,Missense_R186W,Missense_R163W exm1340573 17 56604155 [A/G] NM_080416,NM_001256822,NR_037155,NM_004574,NM_080415,NM_001256782,NM_001198713 SEPT4,SEPT4,SEPT4,SEPT4,SEPT4,SEPT4,SEPT4 EXON Missense_S63L,Silent,Silent,Missense_S82L,Missense_S63L,Missense_S97L,Missense_S74L exm1340575 17 56604185 [T/C] NM_080416,NM_001256822,NR_037155,NM_004574,NM_080415,NM_001256782,NM_001198713 SEPT4,SEPT4,SEPT4,SEPT4,SEPT4,SEPT4,SEPT4 EXON Missense_Y53C,Silent,Silent,Missense_Y72C,Missense_Y53C,Missense_Y87C,Missense_Y64C exm1340581 17 56604332 [T/C] NM_080416,NM_001256822,NR_037155,NM_004574,NM_080415,NM_001256782,NM_001198713 SEPT4,SEPT4,SEPT4,SEPT4,SEPT4,SEPT4,SEPT4 EXON Missense_R4H,Silent,Silent,Missense_R23H,Missense_R4H,Missense_R38H,Missense_R15H exm1340593 17 56619253 [A/C] NM_001038704 C17orf47 EXON Missense_C546G exm1340604 17 56620112 [T/G] NM_001038704 C17orf47 EXON Missense_K479T exm2226839 17 56620142 [A/G] NM_001038704 C17orf47 EXON Missense_F469S exm1340607 17 56620167 [T/C] NM_001038704 C17orf47 EXON Missense_G461S exm1340612 17 56620358 [A/G] NM_001038704 C17orf47 EXON Missense_S397L exm1340624 17 56620560 [T/C] NM_001038704 C17orf47 EXON Missense_E330K exm1340634 17 56620680 [A/G] NM_001038704 C17orf47 EXON Missense_R290W exm1340647 17 56620976 [T/C] NM_001038704 C17orf47 EXON Missense_R191H exm1340648 17 56620977 [A/G] NM_001038704 C17orf47 EXON Missense_R191C exm1340657 17 56621127 [A/G] NM_001038704 C17orf47 EXON Missense_R141C exm1340659 17 56621178 [T/C] NM_001038704 C17orf47 EXON Missense_S124G exm1340665 17 56621286 [T/G] NM_001038704 C17orf47 EXON Missense_P88T exm1340682 17 56621519 [T/C] NM_001038704 C17orf47 EXON Missense_K10R exm1340697 17 56636922 [T/C] NM_001201457,NM_031272,NM_198393 TEX14,TEX14,TEX14 EXON Missense_E1433K,Missense_E1387K,Missense_E1427K exm1340699 17 56638900 [A/G] NM_001201457,NM_031272,NM_198393 TEX14,TEX14,TEX14 EXON Missense_L1426F,Missense_L1380F,Missense_L1420F exm1340708 17 56642242 [T/C] NM_001201457,NM_031272,NM_198393 TEX14,TEX14,TEX14 EXON Missense_E1397G,Missense_E1351G,Missense_E1391G exm1340709 17 56642263 [T/C] NM_001201457,NM_031272,NM_198393 TEX14,TEX14,TEX14 EXON Missense_K1390R,Missense_K1344R,Missense_K1384R exm1340711 17 56643109 [A/G] NM_001201457,NM_031272,NM_198393 TEX14,TEX14,TEX14 EXON Synonymous_N1367N,Synonymous_N1321N,Synonymous_N1361N exm1340719 17 56647759 [C/G] NM_001201457,NM_031272,NM_198393 TEX14,TEX14,TEX14 EXON Missense_R1314S,Missense_R1268S,Missense_R1308S exm1340724 17 56649302 [A/G] NM_001201457,NM_031272,NM_198393 TEX14,TEX14,TEX14 EXON Missense_P1279S,Missense_P1233S,Missense_P1273S exm1340742 17 56654739 [T/C] NM_001201457,NM_031272,NM_198393 TEX14,TEX14,TEX14 EXON Missense_R1152Q,Missense_R1106Q,Missense_R1146Q exm1340750 17 56659018 [T/C] NM_001201457,NM_031272,NM_198393 TEX14,TEX14,TEX14 EXON Missense_G1088D,Silent,Missense_G1082D exm1340751 17 56659019 [T/C] NM_001201457,NM_031272,NM_198393 TEX14,TEX14,TEX14 EXON Missense_G1088S,Silent,Missense_G1082S exm1340796 17 56676322 [T/C] NM_001201457,NM_031272,NM_198393 TEX14,TEX14,TEX14 EXON Missense_Y801C,Missense_Y795C,Missense_Y795C exm1340798 17 56676368 [T/C] NM_001201457,NM_031272,NM_198393 TEX14,TEX14,TEX14 EXON Missense_N786D,Missense_N780D,Missense_N780D exm1340799 17 56676398 [A/G] NM_001201457,NM_031272,NM_198393 TEX14,TEX14,TEX14 EXON Missense_S776P,Missense_S770P,Missense_S770P exm2274965 17 56676480 [A/G] NM_001201457,NM_031272,NM_198393 TEX14,TEX14,TEX14 EXON Synonymous_H748H,Synonymous_H742H,Synonymous_H742H exm1340808 17 56676488 [T/C] NM_001201457,NM_031272,NM_198393 TEX14,TEX14,TEX14 EXON Missense_I746V,Missense_I740V,Missense_I740V exm1340812 17 56676544 [A/G] NM_001201457,NM_031272,NM_198393 TEX14,TEX14,TEX14 EXON Missense_T727M,Missense_T721M,Missense_T721M exm1340817 17 56676727 [A/G] NM_001201457,NM_031272,NM_198393 TEX14,TEX14,TEX14 EXON Missense_M666T,Missense_M660T,Missense_M660T exm1340818 17 56676728 [T/C] NM_001201457,NM_031272,NM_198393 TEX14,TEX14,TEX14 EXON Missense_M666V,Missense_M660V,Missense_M660V exm1340822 17 56676845 [T/C] NM_001201457,NM_031272,NM_198393 TEX14,TEX14,TEX14 EXON Missense_E627K,Missense_E621K,Missense_E621K exm1340828 17 56679178 [A/G] NM_001201457,NM_031272,NM_198393 TEX14,TEX14,TEX14 EXON Missense_L562P,Missense_L556P,Missense_L556P exm1340833 17 56679311 [T/C] NM_001201457,NM_031272,NM_198393 TEX14,TEX14,TEX14 EXON Missense_T518A,Missense_T512A,Missense_T512A exm1340837 17 56679798 [A/G] NM_001201457,NM_031272,NM_198393 TEX14,TEX14,TEX14 EXON Missense_L503P,Missense_L497P,Missense_L497P exm1340841 17 56679826 [T/C] NM_001201457,NM_031272,NM_198393 TEX14,TEX14,TEX14 EXON Missense_V494I,Missense_V488I,Missense_V488I exm1340845 17 56679897 [A/G] NM_001201457,NM_031272,NM_198393 TEX14,TEX14,TEX14 EXON Missense_S470L,Missense_S464L,Missense_S464L exm1340847 17 56679933 [T/C] NM_001201457,NM_031272,NM_198393 TEX14,TEX14,TEX14 EXON Missense_G458D,Missense_G452D,Missense_G452D exm1340851 17 56682395 [C/G] NM_001201457,NM_031272,NM_198393 TEX14,TEX14,TEX14 EXON Missense_A433G,Missense_A427G,Missense_A427G exm1340863 17 56688544 [T/G] NM_001201457,NM_031272,NM_198393 TEX14,TEX14,TEX14 EXON Missense_N394H,Missense_N388H,Missense_N388H exm1340871 17 56688630 [T/C] NM_001201457,NM_031272,NM_198393 TEX14,TEX14,TEX14 EXON Missense_R365K,Missense_R359K,Missense_R359K exm1340875 17 56688699 [T/C] NM_001201457,NM_031272,NM_198393 TEX14,TEX14,TEX14 EXON Missense_R342Q,Missense_R336Q,Missense_R336Q exm1894533 17 56688700 [A/G] NM_001201457,NM_031272,NM_198393 TEX14,TEX14,TEX14 EXON Missense_R342W,Missense_R336W,Missense_R336W exm1340876 17 56690784 [A/G] NM_001201457,NM_031272,NM_198393 TEX14,TEX14,TEX14 EXON Nonsense_R341X,Nonsense_R335X,Nonsense_R335X exm1340889 17 56692633 [A/G] NM_001201457,NM_031272,NM_198393 TEX14,TEX14,TEX14 EXON Missense_R287W,Missense_R281W,Missense_R281W exm2226843 17 56692702 [G/C] NM_001201457,NM_031272,NM_198393 TEX14,TEX14,TEX14 EXON Missense_V264L,Missense_V258L,Missense_V258L exm1340898 17 56693594 [G/C] NM_001201457,NM_031272,NM_198393 TEX14,TEX14,TEX14 EXON Missense_Q243E,Missense_Q237E,Missense_Q237E exm1340905 17 56693677 [T/G] NM_001201457,NM_031272,NM_198393 TEX14,TEX14,TEX14 EXON Missense_P215H,Silent,Silent exm1340914 17 56699018 [T/C] NM_001201457,NM_031272,NM_198393 TEX14,TEX14,TEX14 EXON Missense_V183M,Missense_V183M,Missense_V183M exm1340921 17 56699084 [T/C] NM_001201457,NM_031272,NM_198393 TEX14,TEX14,TEX14 EXON Missense_D161N,Missense_D161N,Missense_D161N exm1340922 17 56699135 [A/T] NM_001201457,NM_031272,NM_198393 TEX14,TEX14,TEX14 EXON Missense_M144L,Missense_M144L,Missense_M144L exm1340923 17 56700209 [T/C] NM_001201457,NM_031272,NM_198393 TEX14,TEX14,TEX14 EXON Missense_Q139R,Missense_Q139R,Missense_Q139R exm1340925 17 56700270 [T/C] NM_001201457,NM_031272,NM_198393 TEX14,TEX14,TEX14 EXON Missense_D119N,Missense_D119N,Missense_D119N exm1340935 17 56707864 [A/G] NM_001201457,NM_031272,NM_198393 TEX14,TEX14,TEX14 EXON Missense_A63V,Missense_A63V,Missense_A63V exm1340974 17 56770018 [T/C] NM_058216,NM_002876 RAD51C,RAD51C EXON Missense_T5M,Missense_T5M exm1340994 17 56772522 [A/G] NM_058216,NM_002876 RAD51C,RAD51C EXON Missense_A126T,Missense_A126T exm1341001 17 56780562 [T/C] NM_058216 RAD51C EXON Nonsense_R193X exm2226845 17 56780592 [A/G] NM_058216 RAD51C EXON Missense_N203D exm1341004 17 56780641 [T/C] NM_058216 RAD51C EXON Missense_L219S exm1341013 17 56787298 [T/G] NM_058216 RAD51C EXON Missense_L262V exm1341014 17 56787304 [A/G] NM_058216 RAD51C EXON Missense_G264S exm1341021 17 56798159 [T/C] NM_058216 RAD51C EXON Missense_L297P exm1341024 17 56801418 [T/G] NM_058216 RAD51C EXON Missense_A308S exm1341044 17 56833491 [T/C] NM_014906,NR_048561 PPM1E,PPM1E EXON Missense_S45P,Silent exm-rs9303401 17 56847945 [T/C] NM_014906,NR_048561 PPM1E,PPM1E Silent,Silent exm1341079 17 57043150 [G/C] NM_014906,NR_048561 PPM1E,PPM1E EXON Missense_Q227E,Silent exm1341088 17 57050215 [A/C] NM_014906,NR_048561 PPM1E,PPM1E EXON Missense_A380D,Silent exm1341100 17 57057898 [T/G] NM_014906,NR_048561 PPM1E,PPM1E EXON Missense_F592V,Silent exm1341102 17 57057956 [A/T] NM_014906,NR_048561 PPM1E,PPM1E EXON Missense_K611I,Silent exm1341111 17 57058175 [A/G] NM_014906,NR_048561 PPM1E,PPM1E EXON Missense_N684S,Silent exm1341112 17 57058177 [T/C] NM_014906,NR_048561 PPM1E,PPM1E EXON Missense_P685S,Silent exm1341132 17 57079022 [T/C] NM_001005207,NM_015294 TRIM37,TRIM37 EXON Missense_E917K,Missense_E917K exm1341142 17 57093035 [T/C] NM_001005207,NM_015294 TRIM37,TRIM37 EXON Missense_V838I,Missense_V838I exm1341151 17 57094676 [C/G] NM_001005207,NM_015294 TRIM37,TRIM37 EXON Missense_D789E,Missense_D789E exm1341159 17 57105793 [T/C] NM_001005207,NM_015294 TRIM37,TRIM37 EXON Missense_N747S,Missense_N747S exm1341162 17 57106011 [T/C] NM_001005207,NM_015294 TRIM37,TRIM37 EXON Missense_M674I,Missense_M674I exm1341163 17 57109286 [T/C] NM_001005207,NM_015294 TRIM37,TRIM37 EXON Missense_R640H,Missense_R640H exm1341164 17 57109389 [T/C] NM_001005207,NM_015294 TRIM37,TRIM37 EXON Missense_A606T,Missense_A606T exm1341167 17 57119179 [T/G] NM_001005207,NM_015294 TRIM37,TRIM37 EXON Missense_P583H,Missense_P583H exm2226848 17 57119188 [A/G] NM_001005207,NM_015294 TRIM37,TRIM37 EXON Missense_A580V,Missense_A580V exm1341171 17 57125141 [A/C] NM_001005207,NM_015294 TRIM37,TRIM37 EXON Missense_Y524D,Missense_Y524D exm1341176 17 57126712 [T/A] NM_001005207,NM_015294 TRIM37,TRIM37 EXON Missense_L453M,Missense_L453M exm2253105 17 57139958 [T/C] NM_001005207,NM_015294 TRIM37,TRIM37 EXON Synonymous_S304S,Synonymous_S304S exm1341195 17 57141768 [T/A] NM_001005207,NM_015294 TRIM37,TRIM37 Silent,Silent exm1341202 17 57157156 [A/C] NM_001005207,NM_015294 TRIM37,TRIM37 EXON Missense_R192L,Missense_R192L exm1341204 17 57157240 [T/C] NM_001005207,NM_015294 TRIM37,TRIM37 Silent,Silent exm1341205 17 57158552 [A/G] NM_001005207,NM_015294 TRIM37,TRIM37 EXON Missense_A133V,Missense_A133V exm1341209 17 57161436 [T/C] NM_001005207,NM_015294 TRIM37,TRIM37 EXON Missense_H99R,Missense_H99R exm1341222 17 57189698 [T/G] NM_001100595,NM_182620 SKA2,SKA2 EXON Missense_H75P,Synonymous_P102P exm1341229 17 57196822 [A/G] NM_001100595,NM_182620 SKA2,SKA2 EXON Silent,Missense_V52A exm1341240 17 57232365 [A/G] NM_001100595,NM_182620 SKA2,SKA2 EXON Missense_P27L,Silent exm2264646 17 57255828 [A/C] NM_018304 PRR11 Silent exm1341251 17 57262419 [A/G] NM_018304 PRR11 EXON Missense_G45S exm1341257 17 57262495 [A/G] NM_018304 PRR11 EXON Missense_R70K exm1341261 17 57262557 [A/G] NM_018304 PRR11 EXON Missense_I91V exm1341269 17 57262897 [T/G] NM_018304 PRR11 EXON Missense_L126V exm1341271 17 57262923 [A/G] NM_018304 PRR11 EXON Synonymous_K134K exm1341274 17 57270893 [T/C] NM_018304 PRR11 EXON Missense_T148I exm1341296 17 57272731 [A/G] NM_018304 PRR11 EXON Missense_V262I exm1341298 17 57272786 [A/G] NM_018304 PRR11 EXON Missense_R280Q exm1341302 17 57274934 [A/G] NM_018304 PRR11 EXON Missense_R296Q exm1341316 17 57287425 [A/G] NM_018149 SMG8 EXON Missense_V5M exm1341320 17 57287453 [T/C] NM_018149 SMG8 EXON Missense_A14V exm1341322 17 57287459 [T/C] NM_018149 SMG8 EXON Missense_A16V exm1341324 17 57287480 [C/G] NM_018149 SMG8 EXON Missense_P23R exm1341342 17 57287820 [A/C] NM_018149 SMG8 EXON Missense_S136R exm1341357 17 57288160 [G/C] NM_018149 SMG8 EXON Missense_V250L exm1341362 17 57288251 [T/C] NM_018149 SMG8 EXON Missense_P280L exm1341367 17 57288479 [A/G] NM_018149 SMG8 EXON Missense_R356K exm1341370 17 57288569 [A/G] NM_018149 SMG8 EXON Missense_S386N exm1341371 17 57288605 [A/G] NM_018149 SMG8 EXON Missense_S398N exm1341378 17 57288997 [T/G] NM_018149 SMG8 EXON Missense_A529S exm1341389 17 57289805 [A/T] NM_018149 SMG8 EXON Missense_D621E exm1341401 17 57290328 [T/C] NM_018149 SMG8 EXON Missense_A715V exm1341407 17 57290502 [T/C] NM_018149 SMG8 EXON Missense_P773L exm1341410 17 57290700 [A/G] NM_018149 SMG8 EXON Missense_R839Q exm1341414 17 57290852 [T/C] NM_018149 SMG8 EXON Missense_Y890H exm1341420 17 57292221 [T/C] NM_018149 SMG8 EXON Missense_T945I exm1341424 17 57292295 [G/C] NM_018149 SMG8 EXON Missense_P970A exm1341441 17 57322884 [T/G] NM_001165993,NM_182569,NM_001165994 GDPD1,GDPD1,GDPD1 EXON Missense_V99L,Missense_V99L,Missense_V99L exm1341446 17 57334510 [A/G] NM_001165993,NM_182569,NM_001165994 GDPD1,GDPD1,GDPD1 EXON Missense_R132Q,Missense_R132Q,Missense_R132Q exm1341448 17 57335131 [A/G] NM_001165993,NM_182569,NM_001165994 GDPD1,GDPD1,GDPD1 EXON Missense_R169Q,Missense_R169Q,Missense_R169Q exm1341468 17 57466829 [T/C] NM_001005404 YPEL2 EXON Synonymous_Y90Y exm2264633 17 57521208 [A/C] exm2226857 17 57651101 [T/G] NM_024612,NM_001166301 DHX40,DHX40 EXON Missense_D183Y,Missense_D106Y exm1341534 17 57682972 [T/C] NM_024612,NM_001166301 DHX40,DHX40 EXON Missense_R713C,Missense_R636C exm1341542 17 57684516 [T/C] NM_024612,NM_001166301 DHX40,DHX40 EXON Nonsense_R775X,Nonsense_R698X exm1341555 17 57724829 [A/T] NM_004859 CLTC EXON Missense_D107E exm1341563 17 57733296 [A/G] NM_004859 CLTC EXON Missense_I293V exm1341604 17 57754549 [T/C] NM_004859 CLTC EXON Synonymous_N932N exm1341636 17 57762475 [A/G] NM_004859 CLTC EXON Missense_R1498H exm1341638 17 57762555 [T/G] NM_004859 CLTC EXON Missense_V1525L exm2226868 17 57763111 [A/G] NM_004859 CLTC EXON Missense_N1590S exm1341643 17 57763116 [A/G] NM_004859 CLTC EXON Missense_M1592V exm1341660 17 57775172 [T/C] NM_016077 PTRH2 EXON Synonymous_A56A exm2253111 17 57775172 [T/C] NM_016077 PTRH2 EXON Synonymous_A56A exm1341664 17 57775279 [T/C] NM_016077 PTRH2 EXON Missense_V21I exm1341675 17 57816208 [A/G] NM_030938 VMP1 EXON Missense_R105H exm1341684 17 57842446 [A/G] NM_030938 VMP1 EXON Missense_T177A exm2272539 17 57930646 [T/G] exm1341725 17 57941133 [G/C] NM_001193612,NM_001193610,NM_001193609,NM_001193611,NM_016261,NM_001193613 TUBD1,TUBD1,TUBD1,TUBD1,TUBD1,TUBD1 EXON Missense_R210P,Silent,Missense_R329P,Missense_R282P,Missense_R384P,Missense_R168P exm1341727 17 57941166 [A/G] NM_001193612,NM_001193610,NM_001193609,NM_001193611,NM_016261,NM_001193613 TUBD1,TUBD1,TUBD1,TUBD1,TUBD1,TUBD1 EXON Missense_P199L,Silent,Missense_P318L,Missense_P271L,Missense_P373L,Missense_P157L exm1341733 17 57944072 [A/G] NM_001193612,NM_001193610,NM_001193609,NM_001193611,NM_016261,NM_001193613 TUBD1,TUBD1,TUBD1,TUBD1,TUBD1,TUBD1 EXON Missense_P151S,Missense_P325S,Missense_P270S,Silent,Missense_P325S,Missense_P109S exm1341755 17 57958377 [T/C] NM_001193612,NM_001193610,NM_001193609,NM_001193611,NM_016261,NM_001193613 TUBD1,TUBD1,TUBD1,TUBD1,TUBD1,TUBD1 EXON Missense_I20V,Missense_I139V,Missense_I139V,Missense_I139V,Missense_I139V,Silent exm1341762 17 57963537 [A/G] NM_001193612,NM_001193610,NM_001193609,NM_001193611,NM_016261,NM_001193613 TUBD1,TUBD1,TUBD1,TUBD1,TUBD1,TUBD1 EXON Silent,Missense_M76T,Missense_M76T,Missense_M76T,Missense_M76T,Silent exm1341774 17 57968354 [T/C] NM_001193612,NM_001193610,NM_001193609,NM_001193611,NM_016261,NM_001193613 TUBD1,TUBD1,TUBD1,TUBD1,TUBD1,TUBD1 EXON Silent,Missense_V4I,Missense_V4I,Missense_V4I,Missense_V4I,Silent exm1341782 17 57970574 [T/A] NM_003161,NM_001272042,NM_001272044,NM_001272060,NM_001272043 RPS6KB1,RPS6KB1,RPS6KB1,RPS6KB1,RPS6KB1 EXON Missense_F10Y,Missense_F10Y,Silent,Silent,Missense_F10Y exm1341785 17 57970654 [A/G] NM_003161,NM_001272042,NM_001272044,NM_001272060,NM_001272043 RPS6KB1,RPS6KB1,RPS6KB1,RPS6KB1,RPS6KB1 EXON Missense_D37N,Missense_D37N,Silent,Missense_D14N,Missense_D37N exm1894923 17 57990046 [A/G] NM_003161,NM_001272042,NM_001272044,NM_001272060,NM_001272043 RPS6KB1,RPS6KB1,RPS6KB1,RPS6KB1,RPS6KB1 EXON Missense_G65S,Missense_G65S,Missense_G12S,Missense_G42S,Missense_G65S exm1341807 17 58022872 [T/C] NM_003161,NM_001272042,NM_001272044,NM_001272060,NM_001272043 RPS6KB1,RPS6KB1,RPS6KB1,RPS6KB1,RPS6KB1 EXON Missense_P445S,Missense_P422S,Missense_P392S,Missense_P422S,Missense_P445S exm2273554 17 58024324 [A/G] NM_003161,NM_001272042,NM_001272044,NM_001272060,NM_001272043 RPS6KB1,RPS6KB1,RPS6KB1,RPS6KB1,RPS6KB1 EXON Silent,Silent,Silent,Silent,Silent exm1341823 17 58030344 [T/C] NM_016125 RNFT1 EXON Missense_I434M exm1341829 17 58030442 [A/G] NM_016125 RNFT1 EXON Missense_W402R exm1341835 17 58031467 [A/C] NM_016125 RNFT1 EXON Missense_V371G exm1341839 17 58034638 [T/C] NM_016125 RNFT1 EXON Missense_V318I exm1341841 17 58034715 [A/G] NM_016125 RNFT1 EXON Missense_L292S exm1341843 17 58034735 [T/C] NM_016125 RNFT1 EXON Nonsense_W285X exm1341860 17 58040269 [A/G] NM_016125 RNFT1 EXON Missense_R145C exm1341864 17 58040356 [A/G] NM_016125 RNFT1 EXON Missense_R116W exm2226875 17 58040559 [A/G] NM_016125 RNFT1 EXON Missense_P48L exm1341877 17 58042014 [A/C] NM_016125 RNFT1 EXON Missense_F4C exm2226876 17 58042021 [G/C] NM_016125 RNFT1 EXON Missense_P2A exm1341883 17 58120931 [T/C] NM_022070 HEATR6 EXON Missense_N1180S exm1341886 17 58120980 [T/C] NM_022070 HEATR6 EXON Missense_V1164I exm1341895 17 58121190 [T/C] NM_022070 HEATR6 EXON Missense_T1094A exm1341897 17 58121264 [T/C] NM_022070 HEATR6 EXON Missense_R1069Q exm1341901 17 58121314 [G/C] NM_022070 HEATR6 EXON Missense_K1052N exm1341903 17 58121348 [T/C] NM_022070 HEATR6 EXON Missense_R1041Q exm1341912 17 58121453 [A/G] NM_022070 HEATR6 EXON Missense_S1006L exm1341917 17 58123512 [A/C] NM_022070 HEATR6 EXON Missense_A950S exm1341925 17 58124705 [A/G] NM_022070 HEATR6 EXON Nonsense_R912X exm1341930 17 58125708 [T/C] NM_022070 HEATR6 EXON Missense_M863I exm1894982 17 58134504 [A/C] NM_022070 HEATR6 EXON Missense_V662L exm1341964 17 58134615 [C/G] NM_022070 HEATR6 EXON Missense_D625H exm1341966 17 58134693 [T/C] NM_022070 HEATR6 EXON Missense_V599I exm1341982 17 58143728 [A/G] NM_022070 HEATR6 EXON Missense_R420C exm1341985 17 58144846 [T/C] NM_022070 HEATR6 EXON Missense_S396N exm1341986 17 58144865 [A/T] NM_022070 HEATR6 EXON Missense_S390C exm1341994 17 58147083 [A/G] NM_022070 HEATR6 EXON Nonsense_R310X exm1341999 17 58147170 [T/C] NM_022070 HEATR6 EXON Missense_M281V exm1342004 17 58149589 [A/G] NM_022070 HEATR6 EXON Missense_I229T exm1342006 17 58150547 [T/A] NM_022070 HEATR6 EXON Missense_C188S exm1342008 17 58150587 [A/C] NM_022070 HEATR6 EXON Missense_L174F exm2253113 17 58150614 [A/G] NM_022070 HEATR6 EXON Synonymous_T165T exm1342021 17 58153580 [A/C] NM_022070 HEATR6 EXON Missense_V80F exm1342023 17 58153591 [G/C] NM_022070 HEATR6 EXON Missense_S76T exm1342027 17 58156064 [A/G] NM_022070 HEATR6 EXON Missense_A71V exm1342032 17 58156199 [A/C] NM_022070 HEATR6 EXON Missense_R26L exm1342034 17 58156232 [A/G] NM_022070 HEATR6 EXON Missense_P15L exm1342045 17 58232719 [T/C] NM_000717 CA4 EXON Missense_P35S exm2275251 17 58235051 [T/A] NM_000717 CA4 EXON Missense_M139L exm1895022 17 58235439 [A/C] NM_000717 CA4 EXON Missense_N177K exm1342067 17 58235483 [A/G] NM_000717 CA4 EXON Missense_K192R exm1342077 17 58235763 [A/G] NM_000717 CA4 EXON Missense_V234I exm1342078 17 58235772 [T/G] NM_000717 CA4 EXON Missense_V237L exm1342079 17 58235779 [A/G] NM_000717 CA4 EXON Missense_R239Q exm1342082 17 58236607 [A/C] NM_000717 CA4 EXON Missense_Q254P exm1342126 17 58263012 [T/C] NM_032582 USP32 EXON Missense_V1215I exm1342147 17 58282990 [T/C] NM_032582 USP32 EXON Missense_M1023V exm1342150 17 58283007 [A/G] NM_032582 USP32 EXON Missense_S1017L exm1342191 17 58300881 [T/C] NM_032582 USP32 EXON Missense_N500S exm1342194 17 58300916 [T/A] NM_032582 USP32 EXON Missense_D488E exm1342195 17 58303400 [T/C] NM_032582 USP32 EXON Missense_G478S exm1342196 17 58303401 [A/G] NM_032582 USP32 EXON Synonymous_S477S exm2272599 17 58316733 [T/C] NM_032582 USP32 Silent exm1342217 17 58342828 [T/C] NM_032582 USP32 EXON Missense_H312R exm1342218 17 58342829 [A/G] NM_032582 USP32 EXON Missense_H312Y exm1342223 17 58343441 [T/C] NM_032582 USP32 EXON Missense_V275I exm1342226 17 58346865 [T/G] NM_032582 USP32 EXON Missense_I253L exm1342228 17 58348761 [T/C] NM_032582 USP32 EXON Missense_E218G exm1342229 17 58348810 [A/G] NM_032582 USP32 EXON Missense_R202C exm1342232 17 58365955 [T/C] NM_032582 USP32 EXON Missense_G167D exm1342240 17 58379026 [A/G] NM_032582 USP32 EXON Missense_H76Y exm1342243 17 58422867 [A/T] NM_032582 USP32 EXON Missense_D54V exm1895125 17 58499987 [A/G] NM_181707 C17orf64 EXON Missense_D12N exm1895126 17 58499989 [A/C] NM_181707 C17orf64 EXON Missense_D12E exm1342254 17 58503180 [A/G] NM_181707 C17orf64 EXON Missense_A30T exm1342255 17 58503541 [T/C] NM_181707 C17orf64 EXON Missense_P58L exm1342257 17 58503558 [T/C] NM_181707 C17orf64 EXON Nonsense_R64X exm1342259 17 58503639 [G/C] NM_181707 C17orf64 EXON Missense_H91D exm1342271 17 58506748 [T/C] NM_181707 C17orf64 EXON Missense_P152L exm1342275 17 58506768 [A/G] NM_181707 C17orf64 EXON Missense_D159N exm1342289 17 58508623 [T/C] NM_181707 C17orf64 EXON Missense_P236L exm1342297 17 58525018 [T/C] NM_006380 APPBP2 EXON Missense_S561N exm1342305 17 58531811 [A/T] NM_006380 APPBP2 EXON Missense_E397V exm1342320 17 58541453 [T/C] NM_006380 APPBP2 EXON Missense_E231K exm1342324 17 58543698 [T/C] NM_006380 APPBP2 EXON Missense_Y209C exm1342333 17 58571976 [T/C] NM_006380 APPBP2 EXON Missense_H77R exm1342338 17 58603213 [T/C] NM_006380 APPBP2 EXON Missense_R27H exm1895168 17 58678037 [T/C] NM_003620 PPM1D EXON Missense_P88S exm1342357 17 58678124 [C/G] NM_003620 PPM1D EXON Missense_R117G exm1342359 17 58678214 [C/G] NM_003620 PPM1D EXON Missense_L147V exm1342376 17 58734069 [T/C] NM_003620 PPM1D EXON Missense_S376F exm1895184 17 58740438 [A/G] NM_003620 PPM1D EXON Missense_N448S exm1342385 17 58740472 [G/C] NM_003620 PPM1D EXON Missense_E459D exm1342386 17 58740500 [A/G] NM_003620 PPM1D EXON Missense_K469E exm1895185 17 58740530 [A/G] NM_003620 PPM1D EXON Missense_A479T exm1342390 17 58740581 [A/G] NM_003620 PPM1D EXON Missense_I496V exm1342392 17 58740596 [A/G] NM_003620 PPM1D EXON Missense_T501A exm1895188 17 58740645 [T/C] NM_003620 PPM1D EXON Missense_T517I exm-IND17-56095456 17 58740675 [I/D] NM_003620 PPM1D EXON exm1342396 17 58740765 [A/G] NM_003620 PPM1D EXON Missense_R557Q exm2274968 17 58740882 [A/G] NM_003620 PPM1D EXON Missense_H596R exm1342407 17 58786625 [A/G] NM_001099432,NM_017679 BCAS3,BCAS3 EXON Missense_N87S,Missense_N87S exm1342408 17 58786681 [A/G] NM_001099432,NM_017679 BCAS3,BCAS3 EXON Missense_I106V,Missense_I106V exm1342412 17 58824617 [A/G] NM_001099432,NM_017679 BCAS3,BCAS3 EXON Missense_R127K,Missense_R127K exm1342414 17 58885413 [T/C] NM_001099432,NM_017679 BCAS3,BCAS3 EXON Missense_V151A,Missense_V151A exm1342430 17 58987981 [T/C] NM_001099432,NM_017679 BCAS3,BCAS3 EXON Missense_A304V,Missense_A304V exm1342432 17 58987998 [T/C] NM_001099432,NM_017679 BCAS3,BCAS3 EXON Missense_R310W,Missense_R310W exm1342434 17 58988001 [T/C] NM_001099432,NM_017679 BCAS3,BCAS3 EXON Missense_R311W,Missense_R311W exm2272540 17 59017025 [T/C] NM_001099432,NM_017679 BCAS3,BCAS3 Silent,Silent exm1342455 17 59067480 [A/G] NM_001099432,NM_017679 BCAS3,BCAS3 EXON Missense_R457H,Missense_R457H exm2253117 17 59067526 [A/G] NM_001099432,NM_017679 BCAS3,BCAS3 EXON Synonymous_T472T,Synonymous_T472T exm2253118 17 59112109 [A/C] NM_001099432,NM_017679 BCAS3,BCAS3 EXON Synonymous_R589R,Synonymous_R574R exm-rs8068952 17 59286644 [C/G] NM_001099432,NM_017679 BCAS3,BCAS3 Silent,Silent exm1342509 17 59445705 [A/G] NM_001099432,NM_017679 BCAS3,BCAS3 EXON Missense_V830M,Missense_V815M exm2253119 17 59445830 [T/C] NM_001099432,NM_017679 BCAS3,BCAS3 EXON Synonymous_S871S,Synonymous_S856S exm1342515 17 59445849 [A/G] NM_001099432,NM_017679 BCAS3,BCAS3 EXON Missense_G878R,Missense_G863R exm-rs9895661 17 59456589 [T/C] NM_001099432,NM_017679 BCAS3,BCAS3 Silent,Silent exm1342525 17 59469394 [A/G] NM_001099432,NM_017679 BCAS3,BCAS3 EXON Missense_G899S,Missense_G884S exm1342530 17 59469482 [T/C] NM_001099432,NM_017679 BCAS3,BCAS3 EXON Missense_P928L,Missense_P913L exm1342549 17 59479113 [T/C] NM_005994 TBX2 EXON Missense_M155T exm1342594 17 59482968 [G/C] NM_005994 TBX2 EXON Missense_G486A exm-rs8068318 17 59483766 [T/C] NM_005994 TBX2 Silent exm1342600 17 59485440 [C/G] NM_005994 TBX2 EXON Missense_G571A exm1342626 17 59485758 [T/C] NM_005994 TBX2 EXON Missense_P677L exm1342634 17 59489391 [G/C] NM_203425 C17orf82 EXON Missense_P19A exm1342635 17 59489394 [T/G] NM_203425 C17orf82 EXON Missense_A20S exm1342636 17 59489395 [T/C] NM_203425 C17orf82 EXON Missense_A20V exm1342637 17 59489425 [C/G] NM_203425 C17orf82 EXON Missense_S30C exm1342639 17 59489433 [T/G] NM_203425 C17orf82 EXON Missense_A33S exm1342640 17 59489443 [G/C] NM_203425 C17orf82 EXON Missense_P36R exm1342642 17 59489469 [A/G] NM_203425 C17orf82 EXON Missense_V45M exm1342649 17 59489707 [T/C] NM_203425 C17orf82 EXON Missense_A124V exm1342652 17 59489763 [T/C] NM_203425 C17orf82 EXON Missense_P143S exm1342653 17 59489787 [G/C] NM_203425 C17orf82 EXON Missense_A151P exm-rs757608 17 59497277 [A/G] exm1342665 17 59533867 [A/G] NM_018488 TBX4 EXON Missense_G6S exm1342666 17 59533868 [C/G] NM_018488 TBX4 EXON Missense_G6A exm1342677 17 59543214 [A/G] NM_018488 TBX4 EXON Missense_G106S exm1342682 17 59543297 [A/T] NM_018488 TBX4 EXON Missense_K133N exm1342688 17 59556011 [T/G] NM_018488 TBX4 EXON Missense_K191N exm1342693 17 59556033 [A/G] NM_018488 TBX4 EXON Missense_V199I exm1342707 17 59557503 [T/C] NM_018488 TBX4 EXON Missense_P282S exm1342709 17 59557521 [C/G] NM_018488 TBX4 EXON Missense_P288A exm1342718 17 59560267 [A/C] NM_018488 TBX4 EXON Missense_T343N exm1342719 17 59560270 [A/G] NM_018488 TBX4 EXON Missense_R344H exm1342730 17 59560446 [A/G] NM_018488 TBX4 EXON Missense_G403R exm1342731 17 59560453 [C/G] NM_018488 TBX4 EXON Missense_S405C exm2253121 17 59560616 [T/C] NM_018488 TBX4 EXON Synonymous_S459S exm1342756 17 59560815 [T/C] NM_018488 TBX4 EXON Nonsense_R526X exm2272601 17 59584565 [T/C] exm-rs2378871 17 59638769 [A/C] exm2253122 17 59661552 [T/C] exm1342764 17 59667898 [A/G] NM_199290 NACA2 EXON Missense_V215A exm1342774 17 59668021 [G/C] NM_199290 NACA2 EXON Missense_T174R exm1342783 17 59668229 [G/C] NM_199290 NACA2 EXON Missense_V105L exm1342787 17 59668352 [T/C] NM_199290 NACA2 EXON Missense_V64I exm1342793 17 59668495 [T/A] NM_199290 NACA2 EXON Nonsense_L16X exm1342797 17 59668517 [A/C] NM_199290 NACA2 EXON Missense_V9F exm1342798 17 59668526 [T/C] NM_199290 NACA2 EXON Missense_T6A exm1342799 17 59668541 [T/G] NM_199290 NACA2 EXON Missense_M1L exm1342812 17 59760963 [T/G] NM_032043 BRIP1 EXON Missense_D1148E exm1342815 17 59761029 [T/G] NM_032043 BRIP1 EXON Missense_E1126D exm1342832 17 59763347 [A/G] NM_032043 BRIP1 EXON Missense_S919P exm1342843 17 59793364 [A/G] NM_032043 BRIP1 EXON Missense_R814C exm1342846 17 59793412 [A/G] NM_032043 BRIP1 EXON Nonsense_R798X exm1342856 17 59821830 [A/C] NM_032043 BRIP1 EXON Missense_Q740H exm1342862 17 59853772 [A/G] NM_032043 BRIP1 EXON Missense_P696L exm1342890 17 59876546 [A/G] NM_032043 BRIP1 EXON Missense_R419W exm1342897 17 59885856 [T/C] NM_032043 BRIP1 EXON Missense_K297R exm1342903 17 59885956 [A/G] NM_032043 BRIP1 EXON Missense_R264W exm1342904 17 59885968 [T/C] NM_032043 BRIP1 EXON Missense_T260A exm1342913 17 59924505 [A/G] NM_032043 BRIP1 EXON Missense_L195P exm1342914 17 59924507 [T/A] NM_032043 BRIP1 EXON Missense_K194N exm1342915 17 59924512 [T/C] NM_032043 BRIP1 EXON Missense_V193I exm1342916 17 59924539 [A/C] NM_032043 BRIP1 EXON Missense_D184Y exm1342917 17 59924572 [A/G] NM_032043 BRIP1 EXON Missense_R173C exm1342920 17 59926567 [T/C] NM_032043 BRIP1 EXON Missense_A144T exm1342923 17 59934481 [T/C] NM_032043 BRIP1 EXON Missense_R106H exm1342929 17 59937223 [G/C] NM_032043 BRIP1 EXON Missense_P47A exm2226901 17 59944980 [C/G] NR_026641,NM_020748 INTS2,INTS2 EXON Silent,Missense_L1185V exm1342935 17 59945259 [T/C] NR_026641,NM_020748 INTS2,INTS2 EXON Silent,Missense_Q1127R exm1342942 17 59946478 [G/C] NR_026641,NM_020748 INTS2,INTS2 EXON Silent,Missense_S1062C exm1342949 17 59947208 [T/C] NR_026641,NM_020748 INTS2,INTS2 EXON Silent,Missense_G982R exm1342952 17 59952317 [A/T] NR_026641,NM_020748 INTS2,INTS2 EXON Silent,Missense_I855L exm1342957 17 59955273 [T/C] NR_026641,NM_020748 INTS2,INTS2 EXON Silent,Missense_V819I exm1342963 17 59955426 [T/G] NR_026641,NM_020748 INTS2,INTS2 EXON Silent,Missense_N768H exm1342964 17 59958425 [A/G] NR_026641,NM_020748 INTS2,INTS2 EXON Silent,Missense_R741W exm1342984 17 59984895 [A/G] NR_026641,NM_020748 INTS2,INTS2 EXON Silent,Missense_V360A exm1342987 17 59984917 [T/C] NR_026641,NM_020748 INTS2,INTS2 EXON Silent,Missense_T353A exm1342991 17 59988892 [T/C] NR_026641,NM_020748 INTS2,INTS2 EXON Silent,Missense_N323D exm1343028 17 60030333 [A/G] NM_005121 MED13 EXON Missense_A2037V exm1343053 17 60039008 [T/G] NM_005121 MED13 EXON Missense_K1733Q exm1343064 17 60040256 [T/C] NM_005121 MED13 EXON Missense_V1641I exm1343072 17 60042388 [A/G] NM_005121 MED13 EXON Missense_P1608L exm1343079 17 60042569 [T/C] NM_005121 MED13 EXON Missense_S1548G exm1343089 17 60042823 [T/C] NM_005121 MED13 EXON Missense_Y1463C exm1343094 17 60043910 [G/C] NM_005121 MED13 EXON Missense_A1432P exm2253123 17 60043929 [T/C] NM_005121 MED13 EXON Synonymous_K1425K exm1343097 17 60045479 [T/C] NM_005121 MED13 EXON Missense_A1370T exm1343098 17 60045568 [T/C] NM_005121 MED13 EXON Missense_Y1340C exm1343112 17 60059699 [T/C] NM_005121 MED13 EXON Missense_R1222H exm1343119 17 60059885 [T/C] NM_005121 MED13 EXON Missense_E1160G exm1343121 17 60059913 [A/G] NM_005121 MED13 EXON Missense_R1151C exm1343122 17 60059916 [T/C] NM_005121 MED13 EXON Missense_G1150R exm1343126 17 60060020 [A/G] NM_005121 MED13 EXON Missense_T1115M exm1343127 17 60060230 [T/G] NM_005121 MED13 EXON Missense_A1045D exm1343150 17 60069978 [T/C] NM_005121 MED13 EXON Missense_E729G exm1343157 17 60087932 [T/C] NM_005121 MED13 EXON Missense_E649G exm1343164 17 60088086 [A/C] NM_005121 MED13 EXON Missense_V598L exm1343167 17 60088127 [T/C] NM_005121 MED13 EXON Missense_Q584R exm1343174 17 60088220 [A/G] NM_005121 MED13 EXON Missense_S553L exm1343175 17 60088221 [A/C] NM_005121 MED13 EXON Missense_S553A exm1895502 17 60088430 [G/C] NM_005121 MED13 EXON Missense_S483T exm1343185 17 60088502 [T/C] NM_005121 MED13 EXON Missense_N459S exm1343206 17 60108896 [A/C] NM_005121 MED13 EXON Missense_L306F exm1343213 17 60111225 [A/C] NM_005121 MED13 EXON Missense_L246W exm1343216 17 60112877 [A/G] NM_005121 MED13 EXON Missense_L188P exm1343222 17 60129955 [T/C] NM_005121 MED13 EXON Missense_R138H exm1343223 17 60129965 [T/C] NM_005121 MED13 EXON Missense_N135D exm1343227 17 60140454 [C/G] NM_005121 MED13 EXON Missense_A92G exm1343229 17 60140460 [T/C] NM_005121 MED13 EXON Missense_S90N exm1343234 17 60140614 [T/C] NM_005121 MED13 EXON Missense_T39A exm2272542 17 60264240 [T/G] exm2272543 17 60440732 [T/C] exm1343254 17 60451185 [G/C] NM_001144933 EFCAB3 EXON Missense_K15N exm1343258 17 60464702 [A/G] NM_001144933,NM_173503 EFCAB3,EFCAB3 EXON Missense_D78N,Missense_D26N exm1343259 17 60464729 [T/C] NM_001144933,NM_173503 EFCAB3,EFCAB3 EXON Missense_C87R,Missense_C35R exm1343262 17 60469231 [T/C] NM_001144933,NM_173503 EFCAB3,EFCAB3 EXON Missense_I119T,Missense_I67T exm1343266 17 60470939 [A/G] NM_001144933,NM_173503 EFCAB3,EFCAB3 EXON Missense_G153R,Missense_G101R exm1343272 17 60472465 [A/G] NM_001144933,NM_173503 EFCAB3,EFCAB3 EXON Missense_N187S,Missense_N135S exm1343275 17 60472551 [T/C] NM_001144933,NM_173503 EFCAB3,EFCAB3 Silent,Silent exm1343279 17 60483894 [A/G] NM_001144933,NM_173503 EFCAB3,EFCAB3 EXON Missense_Y233C,Missense_Y181C exm1343294 17 60493386 [A/G] NM_001144933,NM_173503 EFCAB3,EFCAB3 EXON Missense_Y390C,Missense_Y338C exm2226910 17 60493435 [T/G] NM_001144933,NM_173503 EFCAB3,EFCAB3 EXON Missense_W406C,Missense_W354C exm2226911 17 60493451 [T/G] NM_001144933,NM_173503 EFCAB3,EFCAB3 EXON Missense_D412Y,Missense_D360Y exm1343298 17 60493482 [T/C] NM_001144933,NM_173503 EFCAB3,EFCAB3 EXON Missense_S422F,Missense_S370F exm1343313 17 60501370 [T/C] NM_181725 METTL2A EXON Missense_A36V exm1343316 17 60503864 [T/C] NM_181725 METTL2A EXON Missense_I136T exm1343330 17 60518102 [T/C] NM_181725 METTL2A EXON Missense_A265V exm1343331 17 60518104 [A/G] NM_181725 METTL2A EXON Missense_I266V exm1343332 17 60522204 [G/C] NM_181725 METTL2A EXON Missense_Q272H exm2226915 17 60558518 [T/G] NM_001112707,NM_006852 TLK2,TLK2 EXON Missense_R11L,Missense_R11L exm2226916 17 60558520 [T/C] NM_001112707,NM_006852 TLK2,TLK2 EXON Missense_R12W,Missense_R12W exm2226917 17 60558521 [T/G] NM_001112707,NM_006852 TLK2,TLK2 EXON Missense_R12L,Missense_R12L exm1343355 17 60613661 [T/C] NM_001112707,NM_006852 TLK2,TLK2 EXON Missense_A133V,Missense_A165V exm2226918 17 60631102 [T/G] NM_001112707,NM_006852 TLK2,TLK2 EXON Missense_D204Y,Missense_D236Y exm2253125 17 60674030 [T/C] NM_001112707,NM_006852 TLK2,TLK2 EXON Synonymous_T483T,Synonymous_T515T exm1343395 17 60741917 [A/G] NM_006039 MRC2 EXON Missense_V43I exm1343402 17 60742101 [T/C] NM_006039 MRC2 EXON Missense_T104M exm1343404 17 60742131 [A/G] NM_006039 MRC2 EXON Missense_R114Q exm1343410 17 60742265 [T/C] NM_006039 MRC2 EXON Missense_R159C exm1343413 17 60742307 [T/C] NM_006039 MRC2 EXON Missense_H173Y exm1343434 17 60744158 [T/G] NM_006039 MRC2 EXON Missense_L300F exm2253126 17 60744173 [A/G] NM_006039 MRC2 EXON Synonymous_T305T exm1343436 17 60744173 [A/G] NM_006039 MRC2 EXON Synonymous_T305T exm1343444 17 60744831 [A/C] NM_006039 MRC2 EXON Missense_S352R exm1343465 17 60751527 [A/G] NM_006039 MRC2 EXON Missense_R522Q exm1343468 17 60753158 [T/C] NM_006039 MRC2 EXON Missense_T526M exm1343500 17 60755994 [A/C] NM_006039 MRC2 EXON Missense_N728H exm1343517 17 60758296 [A/C] NM_006039 MRC2 EXON Missense_D870A exm1343534 17 60765684 [A/G] NM_006039 MRC2 EXON Missense_R994Q exm1343537 17 60765878 [C/G] NM_006039 MRC2 EXON Missense_S1026R exm1343543 17 60765997 [T/C] NM_006039 MRC2 EXON Missense_P1066L exm1895682 17 60766005 [C/G] NM_006039 MRC2 EXON Missense_A1069P exm1343551 17 60766292 [T/C] NM_006039 MRC2 EXON Missense_T1102I exm1343552 17 60766320 [A/G] NM_006039 MRC2 EXON Synonymous_T1111T exm1343553 17 60766897 [C/G] NM_006039 MRC2 EXON Missense_P1117A exm1343559 17 60767015 [A/G] NM_006039 MRC2 EXON Missense_R1156H exm1343571 17 60767303 [A/G] NM_006039 MRC2 EXON Missense_G1208S exm1343580 17 60767526 [T/C] NM_006039 MRC2 EXON Missense_P1251L exm1343589 17 60767649 [A/G] NM_006039 MRC2 EXON Missense_R1292Q exm2226921 17 60768003 [T/C] NM_006039 MRC2 EXON Missense_A1298V exm1343591 17 60768014 [A/G] NM_006039 MRC2 EXON Missense_V1302I exm1343603 17 60769610 [T/C] NM_006039 MRC2 EXON Missense_A1413V exm1343605 17 60769663 [A/G] NM_006039 MRC2 EXON Missense_A1431T exm1343606 17 60769699 [A/G] NM_006039 MRC2 EXON Missense_E1443K exm-rs2251393 17 60778932 [A/G] NM_152598,NM_001100875 MARCH10,MARCH10 EXON Silent,Silent exm1343621 17 60782924 [C/G] NM_152598,NM_001100875 MARCH10,MARCH10 EXON Missense_Q783E,Missense_Q783E exm1343625 17 60788696 [T/C] NM_152598,NM_001100875 MARCH10,MARCH10 EXON Missense_E742K,Missense_E742K exm1343627 17 60799941 [T/C] NM_152598,NM_001100875,NR_036146 MARCH10,MARCH10,MIR548W EXON Missense_V708M,Missense_V708M,Silent exm1343638 17 60802418 [T/C] NM_152598,NM_001100875,NR_036146 MARCH10,MARCH10,MIR548W EXON Missense_C662Y,Missense_C662Y,Silent exm1343639 17 60802424 [T/C] NM_152598,NM_001100875,NR_036146 MARCH10,MARCH10,MIR548W EXON Missense_R660H,Missense_R660H,Silent exm1343647 17 60813382 [G/C] NM_152598,NM_001100875,NR_036146 MARCH10,MARCH10,MIR548W EXON Missense_G616A,Missense_G616A,Silent exm1343650 17 60813470 [T/C] NM_152598,NM_001100875,NR_036146 MARCH10,MARCH10,MIR548W EXON Missense_G587S,Missense_G587S,Silent exm1343652 17 60813550 [A/G] NM_152598,NM_001100875,NR_036146 MARCH10,MARCH10,MIR548W EXON Missense_T560I,Missense_T560I,Silent exm1343653 17 60813551 [T/C] NM_152598,NM_001100875,NR_036146 MARCH10,MARCH10,MIR548W EXON Missense_T560A,Missense_T560A,Silent exm1343655 17 60813610 [A/G] NM_152598,NM_001100875,NR_036146 MARCH10,MARCH10,MIR548W EXON Missense_A540V,Missense_A540V,Silent exm1343661 17 60813751 [A/G] NM_152598,NM_001100875,NR_036146 MARCH10,MARCH10,MIR548W EXON Missense_S493L,Missense_S493L,Silent exm2253127 17 60813765 [A/G] NM_152598,NM_001100875,NR_036146 MARCH10,MARCH10,MIR548W EXON Synonymous_D488D,Synonymous_D488D,Silent exm1343663 17 60813799 [A/G] NM_152598,NM_001100875,NR_036146 MARCH10,MARCH10,MIR548W EXON Missense_M477T,Missense_M477T,Silent exm1343673 17 60813944 [A/G] NM_152598,NM_001100875,NR_036146 MARCH10,MARCH10,MIR548W EXON Missense_H429Y,Missense_H429Y,Silent exm1343676 17 60813962 [T/C] NM_152598,NM_001100875,NR_036146 MARCH10,MARCH10,MIR548W EXON Missense_D423N,Missense_D423N,Silent exm1343682 17 60814052 [T/G] NM_152598,NM_001100875,NR_036146 MARCH10,MARCH10,MIR548W EXON Missense_S393R,Missense_S393R,Silent exm1343694 17 60814273 [A/G] NM_152598,NM_001100875,NR_036146 MARCH10,MARCH10,MIR548W EXON Missense_F319S,Missense_F319S,Silent exm1343695 17 60814303 [T/C] NM_152598,NM_001100875,NR_036146 MARCH10,MARCH10,MIR548W EXON Missense_C309Y,Missense_C309Y,Silent exm1343696 17 60814307 [A/G] NM_152598,NM_001100875,NR_036146 MARCH10,MARCH10,MIR548W EXON Missense_P308S,Missense_P308S,Silent exm1343698 17 60814313 [A/G] NM_152598,NM_001100875,NR_036146 MARCH10,MARCH10,MIR548W EXON Missense_R306C,Missense_R306C,Silent exm1343703 17 60814451 [T/C] NM_152598,NM_001100875,NR_036146 MARCH10,MARCH10,MIR548W EXON Missense_T260A,Missense_T260A,Silent exm1343704 17 60814504 [T/G] NM_152598,NM_001100875,NR_036146 MARCH10,MARCH10,MIR548W EXON Missense_K242T,Missense_K242T,Silent exm2253128 17 60814560 [T/C] NM_152598,NM_001100875,NR_036146 MARCH10,MARCH10,MIR548W EXON Synonymous_P223P,Synonymous_P223P,Silent exm1343706 17 60814612 [A/G] NM_152598,NM_001100875,NR_036146 MARCH10,MARCH10,MIR548W EXON Missense_S206L,Missense_S206L,Silent exm1343710 17 60821773 [A/G] NM_152598,NM_001100875,NR_036146 MARCH10,MARCH10,MIR548W EXON Nonsense_Q167X,Nonsense_Q167X,Silent exm1343715 17 60837208 [T/C] NM_152598,NM_001100875,NR_036146 MARCH10,MARCH10,MIR548W EXON Missense_E124K,Missense_E124K,Silent exm1343717 17 60837210 [T/C] NM_152598,NM_001100875,NR_036146 MARCH10,MARCH10,MIR548W EXON Missense_S123N,Missense_S123N,Silent exm1343719 17 60837213 [A/G] NM_152598,NM_001100875,NR_036146 MARCH10,MARCH10,MIR548W EXON Missense_P122L,Missense_P122L,Silent exm1343725 17 60837337 [A/G] NM_152598,NM_001100875,NR_036146 MARCH10,MARCH10,MIR548W EXON Missense_P81S,Missense_P81S,Silent exm2260685 17 60858059 [T/C] NM_152598,NM_001100875,NR_036146 MARCH10,MARCH10,MIR548W Silent,Silent,Silent exm1343728 17 60865912 [A/G] NM_152598,NM_001100875,NR_036146 MARCH10,MARCH10,MIR548W EXON Missense_R47C,Missense_R47C,Silent exm1343729 17 60865948 [A/G] NM_152598,NM_001100875,NR_036146 MARCH10,MARCH10,MIR548W EXON Nonsense_R35X,Nonsense_R35X,Silent exm1343731 17 60879026 [T/C] NM_152598,NM_001100875,NR_036146 MARCH10,MARCH10,MIR548W EXON Missense_K24R,Missense_K24R,Silent exm1343732 17 60879057 [T/C] NM_152598,NM_001100875,NR_036146 MARCH10,MARCH10,MIR548W EXON Missense_D14N,Missense_D14N,Silent exm2268014 17 61055390 [A/G] NR_036146 MIR548W Silent exm1343741 17 61086973 [A/G] NR_036146,NM_025185 MIR548W,TANC2 EXON Silent,Missense_K18R exm1343744 17 61151363 [T/C] NR_036146,NM_025185 MIR548W,TANC2 EXON Silent,Missense_R43C exm1343756 17 61278229 [T/G] NM_025185 TANC2 EXON Missense_I153S exm1343762 17 61315288 [A/G] NM_025185 TANC2 EXON Missense_M221V exm1343777 17 61391946 [A/G] NM_025185 TANC2 EXON Missense_I379V exm1343784 17 61396416 [T/C] NM_025185 TANC2 EXON Missense_R440W exm1343785 17 61396435 [A/G] NM_025185 TANC2 EXON Missense_R446Q exm1343792 17 61417642 [T/A] NM_025185 TANC2 EXON Missense_M512L exm1343821 17 61466051 [T/C] NM_025185 TANC2 EXON Missense_S842F exm1343826 17 61466774 [A/G] NM_025185 TANC2 EXON Missense_M900V exm1343840 17 61482500 [A/G] NM_025185 TANC2 EXON Missense_G1043R exm1343841 17 61482501 [G/C] NM_025185 TANC2 EXON Missense_G1043A exm1343852 17 61488890 [T/C] NM_025185 TANC2 EXON Missense_M1129T exm1343853 17 61488943 [T/C] NM_025185 TANC2 EXON Missense_S1147P exm2226926 17 61488965 [A/G] NM_025185 TANC2 EXON Missense_D1154G exm1343863 17 61489417 [A/G] NM_025185 TANC2 EXON Missense_R1201H exm2226928 17 61498222 [A/G] NM_025185 TANC2 EXON Missense_V1627I exm1343905 17 61498295 [T/C] NM_025185 TANC2 EXON Missense_I1651T exm1895814 17 61498345 [A/G] NM_025185 TANC2 EXON Missense_V1668I exm2276530 17 61498553 [A/G] NM_025185 TANC2 EXON Missense_R1737H exm1343919 17 61498640 [T/C] NM_025185 TANC2 EXON Missense_P1766L exm1343944 17 61511791 [A/G] NM_001017916,NM_001017917,NM_001915 CYB561,CYB561,CYB561 EXON Missense_T243M,Missense_T243M,Missense_T243M exm1343955 17 61512546 [T/C] NM_001017916,NM_001017917,NM_001915 CYB561,CYB561,CYB561 EXON Missense_R155H,Missense_R155H,Missense_R155H exm1343962 17 61512597 [A/C] NM_001017916,NM_001017917,NM_001915 CYB561,CYB561,CYB561 EXON Missense_V138G,Missense_V138G,Missense_V138G exm1343969 17 61513438 [A/G] NM_001017916,NM_001017917,NM_001915 CYB561,CYB561,CYB561 EXON Missense_F93S,Missense_F93S,Missense_F93S exm1343976 17 61514860 [C/G] NM_001017916,NM_001017917,NM_001915 CYB561,CYB561,CYB561 EXON Missense_V17L,Missense_V17L,Missense_V17L exm1344006 17 61556410 [A/G] NM_000789 ACE EXON Missense_A154T exm1344007 17 61556415 [C/G] NM_000789 ACE EXON Missense_K155N exm1344009 17 61556429 [A/G] NM_000789 ACE EXON Missense_N160S exm1344011 17 61556453 [T/C] NM_000789 ACE EXON Missense_L168P exm1344017 17 61557165 [A/G] NM_000789 ACE EXON Missense_A183T exm1344021 17 61557223 [T/C] NM_000789 ACE EXON Missense_P202L exm1344029 17 61557724 [T/C] NM_000789 ACE EXON Missense_R228C exm1344031 17 61557773 [A/G] NM_000789 ACE EXON Missense_Y244C exm1344037 17 61557841 [A/G] NM_000789 ACE EXON Missense_G267R exm1344041 17 61558467 [A/G] NM_000789 ACE EXON Missense_Q288R exm1344055 17 61558951 [T/C] NM_000789 ACE EXON Missense_R324W exm1344069 17 61559850 [T/C] NM_000789 ACE EXON Missense_T381M exm1344071 17 61559883 [T/C] NM_000789 ACE EXON Missense_M392T exm1344076 17 61559937 [A/G] NM_000789 ACE EXON Missense_R410Q exm1344078 17 61559951 [A/G] NM_000789 ACE EXON Missense_G415S exm1344079 17 61559967 [T/C] NM_000789 ACE EXON Missense_I420T exm1344086 17 61560033 [A/G] NM_000789 ACE EXON Missense_R442H exm1344092 17 61560500 [G/C] NM_000789 ACE EXON Missense_P485A exm1344093 17 61560501 [G/C] NM_000789 ACE EXON Missense_P485R exm1344094 17 61560506 [T/C] NM_000789 ACE EXON Missense_R487C exm1344103 17 61560846 [C/G] NM_000789 ACE EXON Missense_P505A exm1344105 17 61560876 [T/G] NM_000789 ACE EXON Missense_A515S exm1344110 17 61561278 [A/G] NM_000789 ACE EXON Missense_G552D exm1344111 17 61561304 [T/C] NM_000789 ACE EXON Missense_R561W exm1344114 17 61561756 [A/G] NM_000789 ACE EXON Missense_D592G exm1344120 17 61561867 [A/C] NM_000789 ACE EXON Missense_H629P exm1344124 17 61561896 [A/G] NM_000789 ACE EXON Missense_G639S exm1344129 17 61562322 [T/C] NM_000789,NM_152830,NM_001178057 ACE,ACE,ACE EXON Silent,Missense_S32P,Missense_S32P exm1344131 17 61562373 [A/G] NM_000789,NM_152830,NM_001178057 ACE,ACE,ACE EXON Silent,Missense_S49G,Missense_S49G exm1344136 17 61562654 [C/G] NM_000789,NM_152830,NM_001178057 ACE,ACE,ACE EXON Missense_S660C,Missense_S86C,Missense_S86C exm1344138 17 61562671 [A/G] NM_000789,NM_152830,NM_001178057 ACE,ACE,ACE EXON Missense_E666K,Missense_E92K,Missense_E92K exm1344159 17 61564428 [A/G] NM_000789,NM_152830,NM_001178057 ACE,ACE,ACE EXON Missense_E767K,Missense_E193K,Missense_E193K exm1344162 17 61566020 [A/G] NM_000789,NM_152830,NM_001178057 ACE,ACE,ACE EXON Missense_V773M,Missense_V199M,Missense_V199M exm-rs4343 17 61566031 [A/G] NM_000789,NM_152830,NM_001178057 ACE,ACE,ACE EXON Synonymous_T776T,Synonymous_T202T,Synonymous_T202T exm1344169 17 61566095 [A/G] NM_000789,NM_152830,NM_001178057 ACE,ACE,ACE EXON Missense_I798V,Missense_I224V,Missense_I224V exm2226934 17 61566335 [T/C] NM_000789,NM_152830,NM_001178057 ACE,ACE,ACE EXON Missense_M828T,Missense_M254T,Missense_M254T exm1344195 17 61568577 [T/C] NM_000789,NM_152830,NM_001178057 ACE,ACE,ACE EXON Missense_T916M,Missense_T342M,Missense_T342M exm1344206 17 61570816 [A/G] NM_000789,NM_152830,NM_001178057 ACE,ACE,ACE EXON Missense_V978M,Missense_V404M,Missense_V404M exm1344217 17 61570929 [A/T] NM_000789,NM_152830,NM_001178057 ACE,ACE,ACE EXON Missense_H1015Q,Missense_H441Q,Missense_H441Q exm1344218 17 61570937 [T/C] NM_000789,NM_152830,NM_001178057 ACE,ACE,ACE EXON Missense_I1018T,Missense_I444T,Missense_I444T exm1344221 17 61570992 [A/C] NM_000789,NM_152830,NM_001178057 ACE,ACE,ACE EXON Missense_N1036K,Missense_N462K,Missense_N462K exm1344223 17 61571017 [G/C] NM_000789,NM_152830,NM_001178057 ACE,ACE,ACE EXON Missense_D1045H,Missense_D471H,Missense_D471H exm1344233 17 61571755 [A/C] NM_000789,NM_152830,NM_001178057 ACE,ACE,ACE EXON Missense_P1102T,Missense_P528T,Missense_P528T exm1344241 17 61573804 [T/C] NM_000789,NM_152830,NM_001178057 ACE,ACE,ACE EXON Nonsense_Q1144X,Nonsense_Q570X,Silent exm1344245 17 61574215 [T/C] NM_000789,NM_152830,NM_001178057 ACE,ACE,ACE EXON Missense_T1187M,Missense_T613M,Missense_T572M exm1344269 17 61574662 [A/C] NM_000789,NM_152830,NM_001178057 ACE,ACE,ACE EXON Missense_R1286S,Missense_R712S,Missense_R671S exm1344271 17 61574675 [A/G] NM_000789,NM_152830,NM_001178057 ACE,ACE,ACE EXON Missense_R1290Q,Missense_R716Q,Missense_R675Q exm1344286 17 61601563 [G/C] NM_030779,NM_173092 KCNH6,KCNH6 EXON Missense_G47A,Missense_G47A exm1344289 17 61601584 [A/G] NM_030779,NM_173092 KCNH6,KCNH6 EXON Missense_Y54C,Missense_Y54C exm1344295 17 61601662 [T/C] NM_030779,NM_173092 KCNH6,KCNH6 EXON Missense_S80F,Missense_S80F exm1344305 17 61607527 [A/C] NM_030779,NM_173092 KCNH6,KCNH6 EXON Missense_N128T,Missense_N128T exm1344310 17 61607602 [A/T] NM_030779,NM_173092 KCNH6,KCNH6 EXON Missense_F153Y,Missense_F153Y exm1344312 17 61607721 [A/G] NM_030779,NM_173092 KCNH6,KCNH6 EXON Missense_G165R,Missense_G165R exm1344327 17 61611380 [T/C] NM_030779,NM_173092 KCNH6,KCNH6 EXON Missense_T270M,Missense_T270M exm1344334 17 61611475 [A/G] NM_030779,NM_173092 KCNH6,KCNH6 EXON Missense_V302M,Missense_V302M exm1895965 17 61611504 [C/G] NM_030779,NM_173092 KCNH6,KCNH6 EXON Missense_F311L,Missense_F311L exm1344343 17 61611606 [A/G] NM_030779,NM_173092 KCNH6,KCNH6 EXON Nonsense_W345X,Nonsense_W345X exm1344344 17 61611614 [T/C] NM_030779,NM_173092 KCNH6,KCNH6 EXON Missense_I348T,Missense_I348T exm1344348 17 61613037 [T/C] NM_030779,NM_173092 KCNH6,KCNH6 EXON Missense_T370I,Missense_T370I exm1344349 17 61613061 [T/C] NM_030779,NM_173092 KCNH6,KCNH6 EXON Missense_A378V,Missense_A378V exm1895969 17 61613081 [T/C] NM_030779,NM_173092 KCNH6,KCNH6 EXON Missense_R385C,Missense_R385C exm1895972 17 61613208 [A/G] NM_030779,NM_173092 KCNH6,KCNH6 EXON Missense_R427Q,Silent exm1344363 17 61613250 [A/G] NM_030779,NM_173092 KCNH6,KCNH6 EXON Missense_G441D,Silent exm1344381 17 61615545 [A/G] NM_030779,NM_173092 KCNH6,KCNH6 EXON Missense_I541V,Missense_I488V exm1895977 17 61615587 [T/C] NM_030779,NM_173092 KCNH6,KCNH6 EXON Missense_H555Y,Missense_H502Y exm1344386 17 61615811 [T/G] NM_030779,NM_173092 KCNH6,KCNH6 EXON Missense_C581F,Missense_C528F exm2226941 17 61615864 [A/G] NM_030779,NM_173092 KCNH6,KCNH6 EXON Missense_G599S,Missense_G546S exm1344390 17 61615870 [A/G] NM_030779,NM_173092 KCNH6,KCNH6 EXON Missense_G601S,Missense_G548S exm1344394 17 61615987 [A/G] NM_030779,NM_173092 KCNH6,KCNH6 EXON Missense_E640K,Missense_E587K exm1344397 17 61619652 [A/G] NM_030779,NM_173092 KCNH6,KCNH6 EXON Missense_K669E,Missense_K616E exm1344399 17 61619670 [T/C] NM_030779,NM_173092 KCNH6,KCNH6 EXON Missense_R675W,Missense_R622W exm1344402 17 61619698 [A/G] NM_030779,NM_173092 KCNH6,KCNH6 EXON Missense_K684R,Missense_K631R exm1344403 17 61619730 [A/G] NM_030779,NM_173092 KCNH6,KCNH6 EXON Missense_D695N,Missense_D642N exm1344404 17 61619740 [T/C] NM_030779,NM_173092 KCNH6,KCNH6 EXON Missense_P698L,Missense_P645L exm1895995 17 61619795 [T/C] NM_030779,NM_173092 KCNH6,KCNH6 EXON Synonymous_D716D,Synonymous_D663D exm1344408 17 61620956 [T/C] NM_030779,NM_173092 KCNH6,KCNH6 EXON Missense_S723L,Missense_S670L exm1344410 17 61620965 [A/G] NM_030779,NM_173092 KCNH6,KCNH6 EXON Missense_R726Q,Missense_R673Q exm1344424 17 61621420 [A/C] NM_030779,NM_173092 KCNH6,KCNH6 EXON Missense_L761I,Silent exm1344425 17 61621436 [A/G] NM_030779,NM_173092 KCNH6,KCNH6 EXON Missense_S766N,Silent exm1344435 17 61622463 [A/C] NM_030779,NM_173092 KCNH6,KCNH6 EXON Missense_D843E,Missense_D754E exm1344437 17 61622570 [T/C] NM_030779,NM_173092 KCNH6,KCNH6 EXON Missense_S879L,Missense_S790L exm2274969 17 61622579 [C/G] NM_030779,NM_173092 KCNH6,KCNH6 EXON Missense_T882R,Missense_T793R exm1344443 17 61622986 [A/G] NM_030779,NM_173092 KCNH6,KCNH6 EXON Missense_D903G,Missense_D814G exm1344447 17 61623052 [T/C] NM_030779,NM_173092 KCNH6,KCNH6 EXON Missense_T925M,Missense_T836M exm1344453 17 61628111 [A/G] NM_005828,NR_073585 DCAF7,DCAF7 EXON Missense_S25G,Silent exm1344465 17 61666483 [T/C] NM_005828,NR_073585 DCAF7,DCAF7 EXON Synonymous_P326P,Silent exm2273555 17 61666687 [T/C] NM_005828,NR_073585 DCAF7,DCAF7 EXON Silent,Silent exm1344479 17 61683718 [A/G] NM_016360 TACO1 EXON Missense_G145S exm1344489 17 61685210 [T/G] NM_016360 TACO1 EXON Missense_S248A exm1344495 17 61685355 [T/C] NM_016360 TACO1 EXON Missense_I296T exm-rs7209435 17 61712964 [T/C] NM_203351,NM_002401 MAP3K3,MAP3K3 Silent,Silent exm1344515 17 61735224 [A/T] NM_203351,NM_002401 MAP3K3,MAP3K3 EXON Missense_M144K,Missense_M113K exm1344517 17 61744373 [A/G] NM_203351,NM_002401 MAP3K3,MAP3K3 EXON Missense_N183S,Missense_N152S exm1344529 17 61766211 [A/G] NM_203351,NM_002401 MAP3K3,MAP3K3 EXON Missense_V312M,Missense_V281M exm1344546 17 61767749 [C/G] NM_203351,NM_002401 MAP3K3,MAP3K3 EXON Missense_P428A,Missense_P397A exm1344550 17 61768562 [C/G] NM_203351,NM_002401 MAP3K3,MAP3K3 EXON Missense_T469S,Missense_T438S exm1344567 17 61771078 [T/C] NM_203351,NM_002401 MAP3K3,MAP3K3 EXON Missense_R639C,Missense_R608C exm2226949 17 61776063 [T/C] NM_030576 LIMD2 EXON Missense_S78N exm1344601 17 61781071 [T/C] NM_153335,NM_001165970,NM_001165969,NM_001003788,NM_001003787,NM_001003786 STRADA,STRADA,STRADA,STRADA,STRADA,STRADA EXON Silent,Silent,Silent,Missense_R337H,Missense_R395H,Missense_R358H exm1344608 17 61781407 [T/C] NM_153335,NM_001165970,NM_001165969,NM_001003788,NM_001003787,NM_001003786 STRADA,STRADA,STRADA,STRADA,STRADA,STRADA EXON Silent,Missense_G293D,Missense_G308D,Synonymous_R309R,Synonymous_R367R,Synonymous_R330R exm1344631 17 61787882 [T/C] NM_153335,NM_001165970,NM_001165969,NM_001003788,NM_001003787,NM_001003786 STRADA,STRADA,STRADA,STRADA,STRADA,STRADA EXON Missense_D147N,Missense_D140N,Missense_D155N,Missense_D126N,Missense_D184N,Missense_D147N exm1344633 17 61787924 [C/G] NM_153335,NM_001165970,NM_001165969,NM_001003788,NM_001003787,NM_001003786 STRADA,STRADA,STRADA,STRADA,STRADA,STRADA EXON Missense_L133V,Missense_L126V,Missense_L141V,Missense_L112V,Missense_L170V,Missense_L133V exm1344634 17 61787950 [A/G] NM_153335,NM_001165970,NM_001165969,NM_001003788,NM_001003787,NM_001003786 STRADA,STRADA,STRADA,STRADA,STRADA,STRADA EXON Missense_T124I,Missense_T117I,Missense_T132I,Missense_T103I,Missense_T161I,Missense_T124I exm1344648 17 61800665 [T/C] NM_153335,NM_001165970,NM_001165969,NM_001003788,NM_001003787,NM_001003786 STRADA,STRADA,STRADA,STRADA,STRADA,STRADA EXON Silent,Silent,Silent,Silent,Missense_R39Q,Silent exm1344649 17 61800677 [A/G] NM_153335,NM_001165970,NM_001165969,NM_001003788,NM_001003787,NM_001003786 STRADA,STRADA,STRADA,STRADA,STRADA,STRADA EXON Silent,Silent,Silent,Silent,Missense_P35L,Silent exm1344653 17 61804055 [A/G] NM_153335,NM_001165970,NM_001165969,NM_001003788,NM_001003787,NM_001003786 STRADA,STRADA,STRADA,STRADA,STRADA,STRADA EXON Silent,Missense_R13W,Silent,Silent,Missense_R13W,Silent exm1344664 17 61829370 [T/C] NM_020198 CCDC47 EXON Missense_E434G exm1344673 17 61829768 [T/C] NM_020198 CCDC47 EXON Missense_Y372C exm1344679 17 61831845 [T/C] NM_020198 CCDC47 EXON Missense_I328V exm1344683 17 61833661 [A/G] NM_020198 CCDC47 EXON Missense_P296L exm2226953 17 61838591 [G/C] NM_020198 CCDC47 EXON Missense_R223T exm1344712 17 61843418 [T/C] NM_020198 CCDC47 EXON Missense_A40T exm1344725 17 61869806 [A/G] NM_007372,NM_203499 DDX42,DDX42 EXON Missense_V86I,Missense_V86I exm1344729 17 61875398 [A/G] NM_007372,NM_203499 DDX42,DDX42 EXON Missense_D125N,Missense_D125N exm1344737 17 61882476 [A/G] NM_007372,NM_203499 DDX42,DDX42 EXON Missense_E223K,Missense_E223K exm1344743 17 61883962 [T/C] NM_007372,NM_203499 DDX42,DDX42 EXON Missense_M265T,Missense_M265T exm2253133 17 61883966 [T/C] NM_007372,NM_203499 DDX42,DDX42 EXON Synonymous_H266H,Synonymous_H266H exm1344757 17 61888436 [G/C] NM_007372,NM_203499 DDX42,DDX42 EXON Missense_T434S,Missense_T434S exm1344760 17 61889365 [A/G] NM_007372,NM_203499 DDX42,DDX42 EXON Missense_R491H,Missense_R491H exm1344763 17 61890617 [A/G] NM_007372,NM_203499 DDX42,DDX42 EXON Missense_T569A,Missense_T569A exm1344766 17 61890732 [A/G] NM_007372,NM_203499 DDX42,DDX42 EXON Missense_S607N,Missense_S607N exm1344768 17 61892969 [A/T] NM_007372,NM_203499 DDX42,DDX42 EXON Missense_K650M,Missense_K650M exm1344775 17 61895165 [A/G] NM_007372,NM_203499 DDX42,DDX42 EXON Missense_T742A,Missense_T742A exm1344778 17 61895202 [T/G] NM_007372,NM_203499 DDX42,DDX42 EXON Missense_S754I,Missense_S754I exm1344781 17 61895280 [T/C] NM_007372,NM_203499 DDX42,DDX42 EXON Missense_P780L,Missense_P780L exm1344805 17 61895604 [A/C] NM_007372,NM_203499 DDX42,DDX42 EXON Missense_E888A,Missense_E888A exm1344817 17 61897218 [T/C] NM_017647 FTSJ3 EXON Missense_K830E exm1344820 17 61897290 [G/C] NM_017647 FTSJ3 EXON Missense_G806R exm1344826 17 61897483 [G/C] NM_017647 FTSJ3 EXON Missense_N769K exm1344830 17 61897683 [A/G] NM_017647 FTSJ3 EXON Missense_R730C exm1896189 17 61897716 [C/G] NM_017647 FTSJ3 EXON Missense_V719L exm1344837 17 61898230 [T/C] NM_017647 FTSJ3 EXON Missense_K681E exm1344838 17 61898250 [A/G] NM_017647 FTSJ3 EXON Missense_I674T exm1344847 17 61898444 [A/G] NM_017647 FTSJ3 EXON Missense_R640C exm1344848 17 61898459 [T/C] NM_017647 FTSJ3 EXON Missense_G635S exm1344851 17 61898718 [T/C] NM_017647 FTSJ3 EXON Missense_E628K exm1344857 17 61898807 [A/G] NM_017647 FTSJ3 EXON Missense_S598F exm1344876 17 61899452 [T/C] NM_017647 FTSJ3 EXON Missense_Y456C exm1344879 17 61901197 [T/A] NM_017647 FTSJ3 EXON Missense_S424C exm1344886 17 61901478 [T/C] NM_017647 FTSJ3 EXON Missense_E374K exm1344887 17 61901532 [A/G] NM_017647 FTSJ3 EXON Missense_S356P exm1344888 17 61901555 [A/G] NM_017647 FTSJ3 EXON Missense_T348I exm1344900 17 61902042 [T/C] NM_017647 FTSJ3 EXON Missense_R291Q exm1344901 17 61902072 [A/G] NM_017647 FTSJ3 EXON Missense_A281V exm1344903 17 61902189 [T/C] NM_017647 FTSJ3 EXON Missense_S271N exm1344917 17 61902667 [T/C] NM_017647 FTSJ3 EXON Missense_R177H exm1344920 17 61902772 [T/C] NM_017647 FTSJ3 EXON Missense_R142H exm1344925 17 61902949 [T/C] NM_017647 FTSJ3 EXON Missense_N116S exm1344927 17 61903445 [C/G] NM_017647 FTSJ3 EXON Missense_Q91E exm1344929 17 61903462 [T/C] NM_017647 FTSJ3 EXON Missense_N85S exm1344934 17 61903961 [A/C] NM_017647 FTSJ3 EXON Missense_A47S exm2226959 17 61904003 [T/C] NM_017647 FTSJ3 EXON Missense_I33V exm1344951 17 61905516 [A/C] NM_002805,NM_001199163 PSMC5,PSMC5 EXON Missense_K15Q,Missense_K7Q exm1344972 17 61908397 [A/G] NM_002805,NM_001199163 PSMC5,PSMC5 EXON Synonymous_G227G,Synonymous_G219G exm-rs13030 17 61908556 [T/C] NM_002805,NM_001199163 PSMC5,PSMC5 EXON Synonymous_L280L,Synonymous_L272L exm1344983 17 61909292 [A/G] NM_002805,NM_001199163 PSMC5,PSMC5 EXON Missense_S395N,Missense_S387N exm2273556 17 61910287 [T/C] NM_001098426 SMARCD2 EXON Silent exm1344991 17 61910514 [A/G] NM_001098426 SMARCD2 EXON Missense_I486T exm1344996 17 61910767 [A/G] NM_001098426 SMARCD2 EXON Missense_I444T exm1345017 17 61912893 [A/G] NM_001098426 SMARCD2 EXON Missense_T201M exm1345055 17 61949917 [A/G] NM_020991,NM_022645,NM_022644 CSH2,CSH2,CSH2 EXON Silent,Silent,Missense_V159A exm1345058 17 61949938 [T/C] NM_020991,NM_022645,NM_022644 CSH2,CSH2,CSH2 EXON Missense_G152E,Silent,Missense_G152E exm1345079 17 61957610 [T/G] NM_022557,NM_022558,NM_002059,NM_022556 GH2,GH2,GH2,GH2 EXON Silent,Missense_P241T,Silent,Silent exm1345082 17 61957648 [T/G] NM_022557,NM_022558,NM_002059,NM_022556 GH2,GH2,GH2,GH2 EXON Silent,Missense_Q228P,Silent,Silent exm1345114 17 61958136 [T/A] NM_022557,NM_022558,NM_002059,NM_022556 GH2,GH2,GH2,GH2 EXON Missense_M151K,Missense_I151K,Missense_M151K,Missense_M136K exm1345116 17 61958228 [C/G] NM_022557,NM_022558,NM_002059,NM_022556 GH2,GH2,GH2,GH2 EXON Missense_R120S,Missense_R120S,Missense_R120S,Missense_R105S exm1345229 17 61987608 [T/C] NM_022580,NM_022581,NM_001318,NM_022579 CSHL1,CSHL1,CSHL1,CSHL1 EXON Missense_T46A,Missense_T106A,Missense_T35A,Missense_T129A exm1345231 17 61987613 [A/G] NM_022580,NM_022581,NM_001318,NM_022579 CSHL1,CSHL1,CSHL1,CSHL1 EXON Missense_T44I,Missense_T104I,Missense_T33I,Missense_T127I exm1896390 17 61987638 [C/G] NM_022580,NM_022581,NM_001318,NM_022579 CSHL1,CSHL1,CSHL1,CSHL1 EXON Missense_E36Q,Missense_E96Q,Missense_E25Q,Missense_E119Q exm1345263 17 61988159 [T/C] NM_022580,NM_022581,NM_001318,NM_022579 CSHL1,CSHL1,CSHL1,CSHL1 EXON Silent,Missense_A46T,Silent,Missense_A46T exm1345265 17 61988162 [G/C] NM_022580,NM_022581,NM_001318,NM_022579 CSHL1,CSHL1,CSHL1,CSHL1 EXON Silent,Missense_R45G,Silent,Missense_R45G exm1345270 17 61988216 [T/C] NM_022580,NM_022581,NM_001318,NM_022579 CSHL1,CSHL1,CSHL1,CSHL1 EXON Silent,Missense_V27I,Silent,Missense_V27I exm1345302 17 61995170 [T/C] NM_000515,NM_022559,NM_022560,NM_022562,NM_022561 GH1,GH1,GH1,GH1,GH1 EXON Missense_V136I,Missense_V121I,Missense_V96I,Silent,Silent exm1345322 17 61995725 [A/T] NM_000515,NM_022559,NM_022560,NM_022562,NM_022561 GH1,GH1,GH1,GH1,GH1 EXON Missense_F51Y,Missense_F51Y,Missense_F51Y,Silent,Missense_F51Y exm1345325 17 61995743 [T/C] NM_000515,NM_022559,NM_022560,NM_022562,NM_022561 GH1,GH1,GH1,GH1,GH1 EXON Missense_R45H,Missense_R45H,Missense_R45H,Silent,Missense_R45H exm1345326 17 61995750 [T/C] NM_000515,NM_022559,NM_022560,NM_022562,NM_022561 GH1,GH1,GH1,GH1,GH1 EXON Missense_A43T,Missense_A43T,Missense_A43T,Silent,Missense_A43T exm1345330 17 61995761 [A/G] NM_000515,NM_022559,NM_022560,NM_022562,NM_022561 GH1,GH1,GH1,GH1,GH1 EXON Missense_A39V,Missense_A39V,Missense_A39V,Silent,Missense_A39V exm1345375 17 62007526 [T/C] NM_021602,NM_000626,NM_001039933 CD79B,CD79B,CD79B EXON Silent,Missense_R113Q,Missense_R114Q exm1345387 17 62008706 [T/C] NM_021602,NM_000626,NM_001039933 CD79B,CD79B,CD79B EXON Missense_R36Q,Missense_R36Q,Missense_R37Q exm1345393 17 62009575 [A/G] NM_021602,NM_000626,NM_001039933 CD79B,CD79B,CD79B EXON Missense_A16V,Missense_A16V,Missense_A16V exm2260687 17 62016704 [A/G] NM_000334 SCN4A EXON Silent exm2253136 17 62018143 [T/C] NM_000334 SCN4A EXON Synonymous_E1833E exm1345403 17 62018218 [T/C] NM_000334 SCN4A EXON Missense_M1808I exm1345407 17 62018276 [A/G] NM_000334 SCN4A EXON Missense_S1789L exm1345418 17 62018437 [G/C] NM_000334 SCN4A EXON Missense_Q1735H exm2226969 17 62018736 [T/C] NM_000334 SCN4A EXON Missense_A1636T exm1345429 17 62018751 [T/C] NM_000334 SCN4A EXON Missense_A1631T exm1345446 17 62019123 [T/C] NM_000334 SCN4A EXON Missense_V1507I exm1345447 17 62019134 [T/C] NM_000334 SCN4A EXON Missense_N1503S exm1345451 17 62019209 [A/G] NM_000334 SCN4A EXON Missense_S1478L exm1345455 17 62019308 [A/G] NM_000334 SCN4A EXON Missense_T1445M exm1345460 17 62020252 [A/G] NM_000334 SCN4A EXON Missense_R1408C exm1345464 17 62020348 [T/C] NM_000334 SCN4A EXON Missense_N1376D exm1345469 17 62020426 [T/C] NM_000334 SCN4A EXON Missense_V1350M exm1345491 17 62022974 [T/C] NM_000334 SCN4A EXON Missense_A1156T exm1345510 17 62026852 [T/C] NM_000334 SCN4A EXON Missense_V964I exm1896537 17 62026881 [A/G] NM_000334 SCN4A EXON Missense_P954L exm1345519 17 62028843 [T/C] NM_000334 SCN4A EXON Missense_D932N exm1345522 17 62028889 [G/C] NM_000334 SCN4A EXON Missense_N916K exm1345524 17 62028915 [T/C] NM_000334 SCN4A EXON Missense_E908K exm1345526 17 62028920 [G/C] NM_000334 SCN4A EXON Missense_S906T exm1345527 17 62028933 [T/C] NM_000334 SCN4A EXON Missense_G902S exm1345531 17 62028992 [T/G] NM_000334 SCN4A EXON Missense_P882Q exm1345533 17 62029014 [A/G] NM_000334 SCN4A EXON Missense_P875S exm1345561 17 62034710 [T/C] NM_000334 SCN4A EXON Missense_V730M exm1345562 17 62034713 [A/G] NM_000334 SCN4A EXON Missense_C729R exm1345575 17 62038602 [T/C] NM_000334 SCN4A EXON Missense_H599R exm1896562 17 62041053 [A/C] NM_000334 SCN4A EXON Missense_G529C exm1345579 17 62041062 [T/C] NM_000334 SCN4A EXON Missense_G526R exm1345581 17 62041068 [T/C] NM_000334 SCN4A EXON Missense_S524G exm1345583 17 62041118 [T/C] NM_000334 SCN4A EXON Missense_N507S exm1345584 17 62041176 [T/C] NM_000334 SCN4A EXON Missense_A488T exm1345586 17 62041850 [T/C] NM_000334 SCN4A EXON Missense_K477R exm1896564 17 62041992 [T/C] NM_000334 SCN4A EXON Missense_I430V exm1896573 17 62045401 [T/C] NM_000334 SCN4A EXON Missense_A340T exm1345603 17 62045451 [A/G] NM_000334 SCN4A EXON Missense_T323M exm1345605 17 62045467 [A/G] NM_000334 SCN4A EXON Missense_W318R exm1345613 17 62045574 [T/C] NM_000334 SCN4A EXON Missense_R282H exm1345617 17 62045706 [A/G] NM_000334 SCN4A EXON Missense_T238M exm1345630 17 62049575 [T/G] NM_000334 SCN4A EXON Missense_M135L exm1345635 17 62049740 [A/G] NM_000334 SCN4A EXON Missense_R122C exm1345642 17 62049954 [A/G] NM_000334 SCN4A EXON Missense_L83P exm1345643 17 62049961 [C/G] NM_000334 SCN4A EXON Missense_E81Q exm1345647 17 62049984 [A/G] NM_000334 SCN4A EXON Missense_P73L exm1345649 17 62050003 [T/C] NM_000334 SCN4A EXON Missense_I67V exm1345652 17 62050048 [A/G] NM_000334 SCN4A EXON Missense_R52W exm1345658 17 62050110 [A/C] NM_000334 SCN4A EXON Missense_R31L exm2272545 17 62050528 [T/C] exm1345674 17 62079123 [A/G] NM_001191031,NM_001164257,NM_001191029,NM_001191030 C17orf72,C17orf72,C17orf72,C17orf72 EXON Silent,Silent,Missense_D167N,Silent exm1345676 17 62079286 [A/G] NM_001191031,NM_001164257,NM_001191029,NM_001191030 C17orf72,C17orf72,C17orf72,C17orf72 EXON Silent,Silent,Missense_C221Y,Silent exm2226974 17 62079310 [T/C] NM_001191031,NM_001164257,NM_001191029,NM_001191030 C17orf72,C17orf72,C17orf72,C17orf72 EXON Silent,Silent,Missense_T229M,Silent exm1345699 17 62081114 [T/C] NM_001191031,NM_001164257,NM_001191029,NM_001191030,NM_001099789,NM_001099786,NM_001099788,NM_001099787,NM_000873 C17orf72,C17orf72,C17orf72,C17orf72,ICAM2,ICAM2,ICAM2,ICAM2,ICAM2 EXON Silent,Silent,Silent,Silent,Missense_D180G,Missense_D180G,Missense_D180G,Missense_D180G,Missense_D180G exm1345701 17 62081120 [A/G] NM_001191031,NM_001164257,NM_001191029,NM_001191030,NM_001099789,NM_001099786,NM_001099788,NM_001099787,NM_000873 C17orf72,C17orf72,C17orf72,C17orf72,ICAM2,ICAM2,ICAM2,ICAM2,ICAM2 EXON Silent,Silent,Silent,Silent,Missense_T178M,Missense_T178M,Missense_T178M,Missense_T178M,Missense_T178M exm1345703 17 62081147 [A/T] NM_001191031,NM_001164257,NM_001191029,NM_001191030,NM_001099789,NM_001099786,NM_001099788,NM_001099787,NM_000873 C17orf72,C17orf72,C17orf72,C17orf72,ICAM2,ICAM2,ICAM2,ICAM2,ICAM2 EXON Silent,Silent,Silent,Silent,Missense_Q169L,Missense_Q169L,Missense_Q169L,Missense_Q169L,Missense_Q169L exm1345704 17 62081169 [T/C] NM_001191031,NM_001164257,NM_001191029,NM_001191030,NM_001099789,NM_001099786,NM_001099788,NM_001099787,NM_000873 C17orf72,C17orf72,C17orf72,C17orf72,ICAM2,ICAM2,ICAM2,ICAM2,ICAM2 EXON Silent,Silent,Silent,Silent,Missense_G162R,Missense_G162R,Missense_G162R,Missense_G162R,Missense_G162R exm1345723 17 62082686 [T/C] NM_001099789,NM_001099786,NM_001099788,NM_001099787,NM_000873 ICAM2,ICAM2,ICAM2,ICAM2,ICAM2 EXON Missense_A37T,Missense_A37T,Missense_A37T,Missense_A37T,Missense_A37T exm1345729 17 62084045 [A/G] NM_001099789,NM_001099786,NM_001099788,NM_001099787,NM_000873 ICAM2,ICAM2,ICAM2,ICAM2,ICAM2 EXON Missense_S3P,Missense_S3P,Missense_S3P,Missense_S3P,Missense_S3P exm1345735 17 62121392 [T/C] NM_001433 ERN1 EXON Missense_E964K exm1896614 17 62121452 [T/C] NM_001433 ERN1 EXON Missense_T944A exm1345739 17 62121494 [T/C] NM_001433 ERN1 EXON Missense_V930M exm1345741 17 62121526 [T/C] NM_001433 ERN1 EXON Missense_R919Q exm1345743 17 62121542 [T/G] NM_001433 ERN1 EXON Missense_L914M exm1345744 17 62121544 [T/C] NM_001433 ERN1 EXON Missense_E913G exm1345788 17 62133037 [T/C] NM_001433 ERN1 EXON Missense_G557E exm1345792 17 62133160 [A/G] NM_001433 ERN1 EXON Missense_P516L exm1345795 17 62133286 [A/C] NM_001433 ERN1 EXON Missense_L474R exm1345807 17 62135320 [T/C] NM_001433 ERN1 EXON Missense_A414T exm1345812 17 62137893 [T/C] NM_001433 ERN1 EXON Missense_N381S exm1345823 17 62141463 [T/C] NM_001433 ERN1 EXON Missense_V324I exm1345835 17 62144202 [G/C] NM_001433 ERN1 EXON Missense_S224C exm1345837 17 62144271 [T/C] NM_001433 ERN1 EXON Missense_N201S exm1345858 17 62157023 [A/G] NM_001433 ERN1 EXON Missense_T94M exm1345884 17 62228250 [A/G] NM_018469 TEX2 EXON Missense_L1078S exm1345891 17 62230405 [T/C] NM_018469 TEX2 EXON Missense_E1021K exm1345902 17 62248461 [T/G] NM_018469 TEX2 EXON Missense_Q897H exm1345904 17 62248511 [T/C] NM_018469 TEX2 EXON Missense_V881M exm1345906 17 62248535 [T/C] NM_018469 TEX2 EXON Missense_T873A exm1345922 17 62265650 [T/C] NM_018469 TEX2 EXON Missense_V775M exm1345933 17 62270960 [A/G] NM_018469 TEX2 EXON Missense_S712L exm1345937 17 62271062 [A/G] NM_018469 TEX2 EXON Missense_T678I exm1345938 17 62271155 [C/G] NM_018469 TEX2 EXON Missense_S647C exm1345949 17 62290044 [T/C] NM_018469 TEX2 EXON Missense_V512M exm1345954 17 62290191 [T/C] NM_018469 TEX2 EXON Missense_D463N exm1345959 17 62290276 [A/T] NM_018469 TEX2 EXON Missense_S434R exm2276532 17 62290300 [A/G] NM_018469 TEX2 EXON Synonymous_F426F exm1345966 17 62290438 [T/C] NM_018469 TEX2 EXON Missense_I380M exm1345967 17 62290439 [A/G] NM_018469 TEX2 EXON Missense_I380T exm1345971 17 62290638 [T/C] NM_018469 TEX2 EXON Missense_G314S exm1345972 17 62290642 [T/G] NM_018469 TEX2 EXON Missense_E312D exm1345989 17 62291096 [A/G] NM_018469 TEX2 EXON Missense_S161F exm1345990 17 62291105 [A/G] NM_018469 TEX2 EXON Missense_T158I exm1346000 17 62291339 [T/G] NM_018469 TEX2 EXON Missense_Q80P exm1346008 17 62291558 [T/C] NM_018469 TEX2 EXON Missense_R7H exm2272546 17 62401118 [T/C] NM_000442 PECAM1 EXON Silent exm-rs6504218 17 62408299 [A/G] exm1346035 17 62461656 [A/C] NM_001085423 MILR1 EXON Missense_Q30K exm1346036 17 62461660 [T/C] NM_001085423 MILR1 Silent exm2226980 17 62463708 [T/A] NM_001085423 MILR1 EXON Missense_D81E exm1346048 17 62476451 [C/G] NM_007215 POLG2 EXON Missense_G416A exm1346049 17 62479069 [A/C] NM_007215 POLG2 EXON Missense_D386E exm1346055 17 62486955 [A/G] NM_007215 POLG2 EXON Synonymous_H309H exm1346065 17 62488876 [T/C] NM_007215 POLG2 EXON Missense_T235A exm1346067 17 62489011 [T/C] NM_007215 POLG2 Silent exm1346068 17 62489027 [T/C] NM_007215 POLG2 EXON Missense_R225Q exm1346070 17 62489033 [T/G] NM_007215 POLG2 EXON Missense_Q223P exm1346074 17 62489111 [A/G] NM_007215 POLG2 EXON Missense_L197P exm1346078 17 62492582 [T/C] NM_007215 POLG2 EXON Missense_A169T exm1346080 17 62492621 [T/C] NM_007215 POLG2 EXON Missense_I156V exm1896752 17 62492630 [C/G] NM_007215 POLG2 EXON Missense_L153V exm1346084 17 62492690 [A/G] NM_007215 POLG2 EXON Missense_H133Y exm2226984 17 62492759 [C/G] NM_007215 POLG2 EXON Missense_L110V exm1346093 17 62492906 [T/C] NM_007215 POLG2 EXON Missense_G61R exm1346094 17 62492965 [T/C] NM_007215 POLG2 EXON Missense_G41E exm1896755 17 62493007 [A/G] NM_007215 POLG2 EXON Missense_A27V exm1346118 17 62496670 [A/C] NM_004396 DDX5 EXON Missense_S480A exm1346165 17 62500429 [A/G] NM_004396 DDX5 EXON Missense_V73A exm1346186 17 62504749 [A/G] NM_138363 CEP95 EXON Missense_H20R exm1346199 17 62515460 [A/G] NM_138363 CEP95 EXON Missense_M165I exm1346202 17 62517603 [T/C] NM_138363 CEP95 EXON Missense_P225S exm1346209 17 62518969 [T/C] NM_138363 CEP95 EXON Missense_S289P exm1346223 17 62525505 [A/G] NM_138363 CEP95 EXON Missense_R469H exm1346230 17 62527122 [A/G] NM_138363 CEP95 EXON Missense_K509E exm1346231 17 62528093 [T/C] NM_138363 CEP95 EXON Missense_T542M exm1346232 17 62528961 [A/C] NM_138363 CEP95 EXON Missense_K559N exm1896836 17 62530763 [T/C] NM_138363 CEP95 EXON Nonsense_R660X exm1346246 17 62530764 [A/G] NM_138363 CEP95 EXON Missense_R660Q exm1346251 17 62530793 [T/G] NM_138363 CEP95 EXON Missense_Y670D exm1346262 17 62533777 [C/G] NM_138363 CEP95 EXON Missense_Q782H exm1346264 17 62533820 [T/C] NM_138363 CEP95 EXON Missense_R797W exm1346268 17 62541974 [T/C] NM_022739 SMURF2 EXON Missense_V747M exm1346296 17 62558921 [A/G] NM_022739 SMURF2 EXON Missense_R394C exm1346305 17 62568058 [T/C] NM_022739 SMURF2 EXON Missense_N292D exm1346309 17 62576963 [T/C] NM_022739 SMURF2 EXON Missense_R239K exm1346321 17 62582265 [T/C] NM_022739 SMURF2 EXON Missense_I142V exm1346330 17 62589578 [T/C] NM_022739 SMURF2 EXON Missense_N105S exm1346336 17 62589691 [T/C] NM_022739 SMURF2 EXON Synonymous_L67L exm1346357 17 62854928 [A/G] NM_199340 LRRC37A3 EXON Missense_T1593M exm1346358 17 62854937 [C/G] NM_199340 LRRC37A3 EXON Missense_G1590A exm1346387 17 62856153 [A/G] NM_199340 LRRC37A3 EXON Missense_P1371S exm1346394 17 62856340 [C/G] NM_199340 LRRC37A3 EXON Missense_H1308Q exm1346420 17 62856876 [T/C] NM_199340 LRRC37A3 EXON Missense_V1130I exm1346422 17 62856881 [A/G] NM_199340 LRRC37A3 EXON Missense_S1128L exm2272604 17 62987151 [T/C] exm1346512 17 63010416 [T/A] NM_006572 GNA13 EXON Missense_T365S exm1346520 17 63010848 [C/G] NM_006572 GNA13 EXON Missense_V221L exm1346527 17 63049685 [T/C] NM_006572 GNA13 EXON Missense_I149V exm1346529 17 63049709 [T/C] NM_006572 GNA13 EXON Missense_V141I exm1346530 17 63049718 [C/G] NM_006572 GNA13 EXON Missense_E138Q exm2253142 17 63090555 [T/C] exm1346554 17 63154436 [A/G] NM_003835,NM_001165933,NM_001081955 RGS9,RGS9,RGS9 EXON Missense_V60I,Missense_V60I,Missense_V60I exm1346556 17 63156391 [A/C] NM_003835,NM_001165933,NM_001081955 RGS9,RGS9,RGS9 EXON Nonsense_Y82X,Nonsense_Y82X,Nonsense_Y82X exm1346561 17 63156441 [A/G] NM_003835,NM_001165933,NM_001081955 RGS9,RGS9,RGS9 EXON Missense_S99N,Missense_S99N,Missense_S99N exm1346565 17 63156654 [A/G] NM_003835,NM_001165933,NM_001081955 RGS9,RGS9,RGS9 EXON Missense_T105A,Missense_T105A,Missense_T105A exm1346566 17 63156655 [C/G] NM_003835,NM_001165933,NM_001081955 RGS9,RGS9,RGS9 EXON Missense_T105R,Missense_T105R,Missense_T105R exm1346575 17 63164319 [T/G] NM_003835,NM_001165933,NM_001081955 RGS9,RGS9,RGS9 EXON Missense_A168S,Missense_A168S,Missense_A168S exm1346588 17 63185431 [A/G] NM_003835,NM_001165933,NM_001081955 RGS9,RGS9,RGS9 EXON Missense_E228K,Missense_E225K,Missense_E225K exm1346591 17 63189687 [T/C] NM_003835,NM_001165933,NM_001081955 RGS9,RGS9,RGS9 EXON Missense_S258L,Missense_S255L,Missense_S255L exm1346598 17 63193278 [T/C] NM_003835,NM_001165933,NM_001081955 RGS9,RGS9,RGS9 EXON Missense_W299R,Missense_W296R,Missense_W296R exm1346606 17 63200352 [C/G] NM_003835,NM_001165933,NM_001081955 RGS9,RGS9,RGS9 EXON Missense_G379A,Missense_G376A,Missense_G376A exm1346616 17 63221121 [T/C] NM_003835,NM_001081955 RGS9,RGS9 EXON Missense_P470L,Missense_P467L exm1346618 17 63221136 [T/C] NM_003835,NM_001081955 RGS9,RGS9 EXON Missense_A475V,Missense_A472V exm1346626 17 63221246 [T/C] NM_003835,NM_001081955 RGS9,RGS9 EXON Missense_R512C,Missense_R509C exm1346637 17 63221418 [A/G] NM_003835,NM_001081955 RGS9,RGS9 EXON Missense_R569Q,Missense_R566Q exm1346647 17 63223416 [T/C] NM_003835,NM_001081955 RGS9,RGS9 EXON Missense_V639A,Missense_V636A exm-rs2869836 17 63333704 [A/G] exm2272605 17 63428940 [T/G] exm1346663 17 63526198 [T/C] NM_004655 AXIN2 EXON Missense_D810N exm1346669 17 63530112 [T/A] NM_004655 AXIN2 EXON Missense_I775F exm1346670 17 63530150 [T/C] NM_004655 AXIN2 EXON Missense_S762N exm1346671 17 63530153 [T/G] NM_004655 AXIN2 EXON Missense_A761D exm1346672 17 63530163 [T/C] NM_004655 AXIN2 EXON Missense_A758T exm1346674 17 63530196 [A/G] NM_004655 AXIN2 EXON Missense_H747Y exm1346676 17 63531768 [A/G] NM_004655 AXIN2 EXON Missense_S738F exm1346680 17 63531799 [T/C] NM_004655 AXIN2 EXON Missense_A728T exm1897120 17 63532439 [A/G] NM_004655 AXIN2 EXON Missense_R714W exm1346695 17 63532594 [A/G] NM_004655 AXIN2 EXON Missense_L662P exm1346698 17 63532627 [A/G] NM_004655 AXIN2 EXON Missense_S651L exm1346700 17 63532631 [A/G] NM_004655 AXIN2 EXON Missense_R650C exm1346708 17 63533012 [A/G] NM_004655 AXIN2 EXON Missense_R628W exm1346712 17 63533087 [G/C] NM_004655 AXIN2 EXON Missense_A603P exm1346719 17 63533464 [T/C] NM_004655 AXIN2 EXON Missense_T564A exm1346720 17 63533469 [A/G] NM_004655 AXIN2 EXON Missense_P562L exm1346721 17 63533517 [A/C] NM_004655 AXIN2 EXON Missense_G546V exm1346725 17 63533539 [T/C] NM_004655 AXIN2 EXON Missense_V539M exm1346727 17 63533556 [A/G] NM_004655 AXIN2 EXON Missense_A533V exm1346730 17 63533581 [G/C] NM_004655 AXIN2 EXON Missense_P525A exm1346736 17 63533622 [A/G] NM_004655 AXIN2 EXON Missense_T511M exm2253143 17 63533624 [T/C] NM_004655 AXIN2 EXON Synonymous_T510T exm1346765 17 63534340 [T/C] NM_004655 AXIN2 EXON Missense_R394H exm1346766 17 63534353 [T/C] NM_004655 AXIN2 EXON Missense_S390G exm1346771 17 63534451 [T/C] NM_004655 AXIN2 EXON Missense_R357H exm1346790 17 63554006 [A/G] NM_004655 AXIN2 EXON Missense_P245S exm1346793 17 63554116 [A/G] NM_004655 AXIN2 EXON Missense_A208V exm1346797 17 63554176 [T/C] NM_004655 AXIN2 EXON Missense_Q188R exm1346810 17 63554497 [A/G] NM_004655 AXIN2 EXON Missense_S81F exm1346813 17 63554536 [T/C] NM_004655 AXIN2 EXON Missense_R68Q exm1346815 17 63554591 [A/G] NM_004655 AXIN2 EXON Missense_P50S exm2268015 17 63600365 [A/G] exm1346831 17 63637082 [T/C] NM_145036,NM_001037325,NM_001199165 CEP112,CEP112,CEP112 EXON Synonymous_Q933Q,Synonymous_Q189Q,Synonymous_Q933Q exm-rs8074751 17 63642542 [A/G] NM_145036,NM_001037325,NM_001199165 CEP112,CEP112,CEP112 Silent,Silent,Silent exm1346836 17 63685269 [T/G] NM_145036,NM_001037325,NM_001199165 CEP112,CEP112,CEP112 EXON Missense_K892T,Missense_K148T,Missense_K892T exm1346838 17 63685297 [A/G] NM_145036,NM_001037325,NM_001199165 CEP112,CEP112,CEP112 EXON Nonsense_R883X,Nonsense_R139X,Nonsense_R883X exm1346845 17 63739260 [A/G] NM_145036,NM_001037325,NM_001199165 CEP112,CEP112,CEP112 EXON Missense_R845W,Missense_R101W,Missense_R845W exm1346854 17 63822318 [G/C] NM_145036,NM_001037325,NM_001199165 CEP112,CEP112,CEP112 EXON Silent,Missense_E34Q,Silent exm1346859 17 63822357 [T/C] NM_145036,NM_001037325,NM_001199165 CEP112,CEP112,CEP112 EXON Silent,Missense_I21V,Silent exm1346867 17 63847978 [T/C] NM_145036,NM_001199165 CEP112,CEP112 EXON Missense_M780V,Missense_M780V exm1346868 17 63847986 [A/G] NM_145036,NM_001199165 CEP112,CEP112 EXON Missense_S777L,Missense_S777L exm1346875 17 63898308 [T/C] NM_145036,NM_001199165 CEP112,CEP112 EXON Missense_E709K,Missense_E709K exm1346878 17 63898353 [T/C] NM_145036,NM_001199165 CEP112,CEP112 EXON Missense_I694V,Missense_I694V exm1897262 17 63898359 [A/G] NM_145036,NM_001199165 CEP112,CEP112 EXON Missense_R692W,Missense_R692W exm1897263 17 63898370 [T/C] NM_145036,NM_001199165 CEP112,CEP112 EXON Missense_R688Q,Missense_R688Q exm1346887 17 63898433 [T/G] NM_145036,NM_001199165 CEP112,CEP112 EXON Missense_E667A,Missense_E667A exm1346888 17 63898448 [A/G] NM_145036,NM_001199165 CEP112,CEP112 EXON Missense_V662A,Missense_V662A exm1346890 17 63923713 [T/C] NM_145036,NM_001199165 CEP112,CEP112 EXON Missense_R656Q,Missense_R656Q exm2274973 17 63923773 [T/C] NM_145036,NM_001199165 CEP112,CEP112 EXON Missense_K636R,Missense_K636R exm1346899 17 63957628 [A/G] NM_145036,NM_001199165 CEP112,CEP112 EXON Nonsense_Q609X,Nonsense_Q609X exm1346906 17 64001862 [A/T] NM_145036,NM_001199165 CEP112,CEP112 EXON Missense_D561V,Missense_D561V exm1346909 17 64023624 [T/C] NM_145036,NM_001199165 CEP112,CEP112 EXON Missense_K551E,Missense_K551E exm1346927 17 64026000 [T/C] NM_145036,NM_001199165 CEP112,CEP112 EXON Missense_E454K,Missense_E454K exm1897282 17 64026031 [A/T] NM_145036,NM_001199165 CEP112,CEP112 EXON Missense_R443S,Missense_R443S exm1346931 17 64026071 [T/C] NM_145036,NM_001199165 CEP112,CEP112 EXON Missense_Q430R,Missense_Q430R exm2253146 17 64049869 [T/C] NM_145036,NM_001199165 CEP112,CEP112 EXON Synonymous_A401A,Synonymous_A401A exm1346935 17 64049870 [A/G] NM_145036,NM_001199165 CEP112,CEP112 EXON Missense_A401V,Missense_A401V exm1346937 17 64049981 [C/G] NM_145036,NM_001199165 CEP112,CEP112 EXON Missense_A364G,Missense_A364G exm1346943 17 64059142 [A/G] NM_145036,NM_001199165 CEP112,CEP112 EXON Missense_A338V,Missense_A338V exm1346951 17 64066044 [C/G] NM_145036,NM_001199165 CEP112,CEP112 EXON Missense_D282H,Missense_D282H exm2227004 17 64092703 [T/C] NM_145036,NM_001199165 CEP112,CEP112 EXON Synonymous_L230L,Synonymous_L230L exm-rs7209395 17 64133726 [T/C] NM_145036,NM_001199165 CEP112,CEP112 Silent,Silent exm1346974 17 64171222 [A/G] NM_145036,NM_001199165 CEP112,CEP112 EXON Missense_S137L,Missense_S137L exm1346979 17 64173012 [A/G] NM_145036,NM_001199165 CEP112,CEP112 EXON Missense_A78V,Missense_A78V exm1346985 17 64173100 [T/C] NM_145036,NM_001199165 CEP112,CEP112 EXON Missense_E49K,Missense_E49K exm1346991 17 64208285 [G/C] NM_000042 APOH EXON Missense_W335S exm1346997 17 64210580 [A/C] NM_000042 APOH EXON Missense_C325G exm1346998 17 64210592 [T/C] NM_000042 APOH EXON Missense_E321K exm1347003 17 64210757 [A/C] NM_000042 APOH EXON Missense_V266L exm1347007 17 64212962 [A/G] NM_000042 APOH EXON Missense_P243L exm1347009 17 64213075 [T/G] NM_000042 APOH EXON Nonsense_C205X exm1347020 17 64216797 [T/G] NM_000042 APOH EXON Missense_A160D exm1347023 17 64216815 [T/C] NM_000042 APOH EXON Missense_R154H exm1347027 17 64216854 [A/G] NM_000042 APOH EXON Missense_I141T exm1347036 17 64222164 [T/C] NM_000042 APOH EXON Missense_S107N exm2227006 17 64222212 [T/C] NM_000042 APOH EXON Missense_E91G exm1347046 17 64224155 [T/C] NM_000042 APOH EXON Missense_N75S exm1347057 17 64225437 [A/G] NM_000042 APOH EXON Missense_R21W exm2276534 17 64225469 [A/G] NM_000042 APOH EXON Missense_S10L exm1347058 17 64225484 [A/G] NM_000042 APOH EXON Missense_V5A exm2268016 17 64280153 [A/G] exm-rs9912468 17 64318357 [C/G] NM_002737 PRKCA Silent exm2272606 17 64340380 [T/C] NM_002737 PRKCA Silent exm1347153 17 64683255 [A/G] NM_002737 PRKCA EXON Missense_M186V exm1347169 17 64728897 [T/C] NM_002737 PRKCA EXON Missense_T337M exm1347195 17 64738819 [A/G] NM_002737 PRKCA EXON Missense_M489V exm1347199 17 64783081 [A/G] NM_002737 PRKCA EXON Missense_V568I exm2227008 17 64784971 [A/C] NM_002737 PRKCA EXON Missense_H576Q exm1347218 17 64800042 [A/G] NM_002737 PRKCA EXON Missense_V636I exm1347230 17 64873463 [A/G] NM_145811 CACNG5 EXON Missense_G5R exm1347231 17 64873500 [T/C] NM_145811 CACNG5 EXON Missense_A17V exm1347240 17 64873628 [T/C] NM_145811 CACNG5 EXON Missense_R60W exm1347249 17 64875168 [A/G] NM_145811 CACNG5 EXON Missense_N92S exm1347252 17 64876682 [T/C] NM_145811 CACNG5 EXON Missense_R98C exm1347253 17 64876683 [A/G] NM_145811 CACNG5 EXON Missense_R98H exm1347257 17 64876761 [A/G] NM_145811 CACNG5 EXON Missense_R124H exm1897404 17 64876770 [A/G] NM_145811 CACNG5 EXON Missense_R127Q exm2274975 17 64880659 [G/C] NM_145811 CACNG5 EXON Missense_L151V exm1347261 17 64880674 [T/A] NM_145811 CACNG5 EXON Missense_I156F exm1347295 17 64881146 [T/C] NM_145811 CACNG5 EXON Missense_A206V exm1347296 17 64881148 [A/G] NM_145811 CACNG5 EXON Missense_E207K exm1347299 17 64881182 [A/G] NM_145811 CACNG5 EXON Missense_R218H exm-rs17645023 17 64917033 [A/T] exm2268017 17 64969815 [A/G] NM_014405 CACNG4 Silent exm2264647 17 65000219 [A/C] NM_014405 CACNG4 Silent exm1347316 17 65014329 [A/G] NM_014405 CACNG4 EXON Missense_R82Q exm1347324 17 65020996 [A/G] NM_014405 CACNG4 EXON Missense_V109I exm1347336 17 65026686 [T/G] NM_014405 CACNG4 EXON Missense_S184A exm1347337 17 65026726 [T/C] NM_014405 CACNG4 EXON Missense_T197I exm1347341 17 65026815 [T/C] NM_014405 CACNG4 EXON Missense_S227P exm1347358 17 65027019 [A/G] NM_014405 CACNG4 EXON Missense_D295N exm1347366 17 65040804 [T/C] NM_000727 CACNG1 EXON Missense_R10C exm1347367 17 65040805 [A/G] NM_000727 CACNG1 EXON Missense_R10H exm1897464 17 65040937 [T/G] NM_000727 CACNG1 EXON Missense_W54L exm1347380 17 65040990 [A/G] NM_000727 CACNG1 EXON Missense_I72V exm1347396 17 65051302 [A/G] NM_000727 CACNG1 EXON Missense_G130R exm1347405 17 65052208 [A/C] NM_000727 CACNG1 EXON Missense_R164S exm1347413 17 65052304 [A/G] NM_000727 CACNG1 EXON Missense_G196S exm1347418 17 65052335 [G/C] NM_000727 CACNG1 EXON Missense_R206P exm1347422 17 65052356 [A/C] NM_000727 CACNG1 EXON Missense_E213A exm1347436 17 65074702 [A/G] NM_014877 HELZ EXON Missense_A1832V exm2253150 17 65103507 [A/G] NM_014877 HELZ EXON Synonymous_P1673P exm1347458 17 65103586 [A/G] NM_014877 HELZ EXON Missense_P1647L exm1347462 17 65103698 [T/C] NM_014877 HELZ EXON Missense_V1610I exm1347470 17 65104743 [A/G] NM_014877 HELZ EXON Missense_A1530V exm1347478 17 65105319 [T/C] NM_014877 HELZ EXON Missense_I1468V exm1347481 17 65105352 [T/C] NM_014877 HELZ EXON Missense_M1457V exm1347482 17 65105363 [T/G] NM_014877 HELZ EXON Missense_Q1453P exm2227014 17 65105387 [A/G] NM_014877 HELZ EXON Missense_A1445V exm1897507 17 65105513 [T/C] NM_014877 HELZ EXON Missense_Q1403R exm1347488 17 65105604 [T/C] NM_014877 HELZ EXON Missense_I1373V exm1347490 17 65105649 [A/G] NM_014877 HELZ EXON Missense_R1358C exm1897515 17 65110496 [T/C] NM_014877 HELZ EXON Missense_G1288R exm1347499 17 65116589 [T/G] NM_014877 HELZ EXON Missense_P1257Q exm1347512 17 65120111 [G/C] NM_014877 HELZ EXON Missense_T1136S exm1347527 17 65147164 [A/G] NM_014877 HELZ EXON Missense_P785L exm1347534 17 65157177 [C/G] NM_014877 HELZ EXON Missense_Q637H exm1347538 17 65162694 [A/G] NM_014877 HELZ EXON Missense_P599S exm1347539 17 65163599 [A/G] NM_014877 HELZ EXON Missense_R582W exm1347540 17 65163621 [A/T] NM_014877 HELZ EXON Missense_E574D exm1347541 17 65163644 [T/C] NM_014877 HELZ EXON Missense_I567V exm1347543 17 65163674 [T/C] NM_014877 HELZ EXON Missense_A557T exm1897570 17 65174940 [A/G] NM_014877 HELZ EXON Missense_T422I exm1347561 17 65185800 [T/C] NM_014877 HELZ EXON Missense_I257V exm1347576 17 65212042 [T/C] NM_014877 HELZ EXON Missense_V74M exm2227019 17 65214779 [A/G] NM_014877 HELZ EXON Missense_C48R exm2272548 17 65289798 [T/C] exm1347603 17 65341888 [T/C] NM_002816,NM_174871 PSMD12,PSMD12 EXON Missense_K294R,Missense_K274R exm1347672 17 65688811 [A/G] NM_181671,NM_012417 PITPNC1,PITPNC1 EXON Silent,Missense_R269H exm1347679 17 65714095 [T/C] NM_015462 NOL11 EXON Missense_S11F exm1347693 17 65717525 [T/C] NM_015462 NOL11 EXON Missense_V115A exm1347698 17 65718742 [A/C] NM_015462 NOL11 EXON Missense_I170L exm1347715 17 65722690 [A/G] NM_015462 NOL11 EXON Missense_R260Q exm1347723 17 65730548 [G/C] NM_015462 NOL11 EXON Missense_S308T exm1347724 17 65730555 [A/G] NM_015462 NOL11 EXON Synonymous_Q310Q exm1347730 17 65732850 [T/C] NM_015462 NOL11 EXON Missense_S375P exm1347731 17 65732851 [T/C] NM_015462 NOL11 EXON Missense_S375L exm1347740 17 65733661 [A/G] NM_015462 NOL11 EXON Missense_K419R exm1347744 17 65733793 [A/G] NM_015462 NOL11 EXON Missense_H463R exm1347757 17 65734410 [T/C] NM_015462 NOL11 EXON Missense_P568S exm1897682 17 65734425 [A/G] NM_015462 NOL11 EXON Missense_K573E exm1347770 17 65739626 [T/C] NM_015462 NOL11 EXON Missense_A656V exm2272549 17 65768543 [T/C] exm1347787 17 65822295 [G/C] NM_182641,NM_004459 BPTF,BPTF EXON Missense_A152G,Missense_A152G exm1347790 17 65822320 [C/G] NM_182641,NM_004459 BPTF,BPTF EXON Missense_D160E,Missense_D160E exm1347813 17 65850469 [A/G] NM_182641,NM_004459 BPTF,BPTF EXON Missense_V343I,Missense_V343I exm1347825 17 65862800 [A/G] NM_182641,NM_004459 BPTF,BPTF EXON Missense_N553D,Missense_N553D exm-rs12602912 17 65870073 [T/C] NM_182641,NM_004459 BPTF,BPTF Silent,Silent exm2227027 17 65871100 [A/G] NM_182641,NM_004459 BPTF,BPTF EXON Missense_T610A,Missense_T610A exm1347842 17 65882373 [A/G] NM_182641,NM_004459 BPTF,BPTF EXON Silent,Missense_D728G exm2268053 17 65903006 [A/G] NM_182641,NM_004459 BPTF,BPTF Silent,Silent exm1347892 17 65907278 [A/G] NM_182641,NM_004459 BPTF,BPTF EXON Missense_K1093R,Missense_K1219R exm1347893 17 65907293 [T/C] NM_182641,NM_004459 BPTF,BPTF EXON Missense_S1098F,Missense_S1224F exm1347894 17 65907298 [A/G] NM_182641,NM_004459 BPTF,BPTF EXON Missense_K1100E,Missense_K1226E exm1347895 17 65907313 [T/G] NM_182641,NM_004459 BPTF,BPTF EXON Missense_S1105A,Missense_S1231A exm1347901 17 65907447 [T/A] NM_182641,NM_004459 BPTF,BPTF EXON Missense_R1149S,Missense_R1275S exm1347904 17 65907478 [T/C] NM_182641,NM_004459 BPTF,BPTF EXON Missense_L1160F,Missense_L1286F exm1347905 17 65907503 [A/G] NM_182641,NM_004459 BPTF,BPTF EXON Missense_D1168G,Missense_D1294G exm1347909 17 65907581 [C/G] NM_182641,NM_004459 BPTF,BPTF EXON Missense_S1194C,Missense_S1320C exm1347910 17 65907644 [T/C] NM_182641,NM_004459 BPTF,BPTF EXON Missense_I1215T,Missense_I1341T exm1347926 17 65907905 [A/G] NM_182641,NM_004459 BPTF,BPTF EXON Missense_S1302N,Missense_S1428N exm1347927 17 65907914 [A/G] NM_182641,NM_004459 BPTF,BPTF EXON Missense_D1305G,Missense_D1431G exm1347939 17 65908151 [A/C] NM_182641,NM_004459 BPTF,BPTF EXON Missense_T1384N,Missense_T1510N exm1347940 17 65908153 [A/G] NM_182641,NM_004459 BPTF,BPTF EXON Missense_T1385A,Missense_T1511A exm1347945 17 65908292 [T/C] NM_182641,NM_004459 BPTF,BPTF EXON Missense_V1431A,Missense_V1557A exm1347972 17 65909017 [A/G] NM_182641,NM_004459 BPTF,BPTF EXON Missense_V1673I,Missense_V1799I exm1347974 17 65909073 [T/G] NM_182641,NM_004459 BPTF,BPTF EXON Missense_M1691I,Missense_M1817I exm1347994 17 65919019 [T/C] NM_182641,NM_004459 BPTF,BPTF EXON Missense_T1874M,Missense_T2000M exm1348020 17 65925556 [A/G] NM_182641,NM_004459 BPTF,BPTF EXON Missense_I2035V,Missense_I2161V exm1348025 17 65936555 [A/G] NM_182641,NM_004459 BPTF,BPTF EXON Missense_G2087D,Missense_G2213D exm2253155 17 65936664 [A/G] NM_182641,NM_004459 BPTF,BPTF EXON Synonymous_S2123S,Synonymous_S2249S exm1348030 17 65936669 [T/C] NM_182641,NM_004459 BPTF,BPTF EXON Missense_T2125M,Missense_T2251M exm1348079 17 65955744 [G/C] NM_182641,NM_004459 BPTF,BPTF EXON Missense_P2672A,Missense_P2655A exm2253156 17 65955758 [T/C] NM_182641,NM_004459 BPTF,BPTF EXON Synonymous_A2676A,Synonymous_A2659A exm1348101 17 65988049 [T/C] NM_181655,NM_181656 C17orf58,C17orf58 EXON Missense_I92V,Silent exm1348107 17 65989037 [A/G] NM_181655,NM_181656 C17orf58,C17orf58 EXON Silent,Missense_X76R exm1348108 17 65989048 [T/C] NM_181655,NM_181656 C17orf58,C17orf58 EXON Silent,Missense_E72G exm1348130 17 66036837 [A/G] NM_002266 KPNA2 EXON Missense_N86S exm1348137 17 66038247 [T/C] NM_002266 KPNA2 EXON Missense_R117W exm1348149 17 66039095 [T/C] NM_002266 KPNA2 EXON Missense_P216S exm1348151 17 66039102 [T/C] NM_002266 KPNA2 EXON Missense_M218T exm1348154 17 66039279 [A/C] NM_002266 KPNA2 EXON Missense_P244T exm1348155 17 66039312 [A/T] NM_002266 KPNA2 EXON Missense_T255S exm1348187 17 66246353 [T/C] NM_001033571,NM_001033572,NM_016627,NM_001033570,NM_001033574,NM_001033569 AMZ2,AMZ2,AMZ2,AMZ2,AMZ2,AMZ2 EXON Nonsense_Q9X,Nonsense_Q9X,Nonsense_Q9X,Nonsense_Q9X,Nonsense_Q9X,Nonsense_Q9X exm1348190 17 66246416 [A/G] NM_001033571,NM_001033572,NM_016627,NM_001033570,NM_001033574,NM_001033569 AMZ2,AMZ2,AMZ2,AMZ2,AMZ2,AMZ2 EXON Missense_N30D,Missense_N30D,Missense_N30D,Missense_N30D,Missense_N30D,Missense_N30D exm1348192 17 66246432 [A/G] NM_001033571,NM_001033572,NM_016627,NM_001033570,NM_001033574,NM_001033569 AMZ2,AMZ2,AMZ2,AMZ2,AMZ2,AMZ2 EXON Missense_R35H,Missense_R35H,Missense_R35H,Missense_R35H,Missense_R35H,Missense_R35H exm1348206 17 66247076 [A/G] NM_001033571,NM_001033572,NM_016627,NM_001033570,NM_001033574,NM_001033569 AMZ2,AMZ2,AMZ2,AMZ2,AMZ2,AMZ2 EXON Missense_N142S,Missense_N142S,Missense_N142S,Missense_N142S,Silent,Missense_N142S exm1897889 17 66250649 [A/G] NM_001033571,NM_001033572,NM_016627,NM_001033570,NM_001033574,NM_001033569 AMZ2,AMZ2,AMZ2,AMZ2,AMZ2,AMZ2 EXON Missense_I231V,Missense_I231V,Missense_I231V,Missense_I231V,Missense_I173V,Missense_I231V exm1348220 17 66250655 [A/G] NM_001033571,NM_001033572,NM_016627,NM_001033570,NM_001033574,NM_001033569 AMZ2,AMZ2,AMZ2,AMZ2,AMZ2,AMZ2 EXON Missense_D233N,Missense_D233N,Missense_D233N,Missense_D233N,Missense_D175N,Missense_D233N exm1348235 17 66253003 [A/G] NM_001033571,NM_001033572,NM_016627,NM_001033570,NM_001033574,NM_001033569 AMZ2,AMZ2,AMZ2,AMZ2,AMZ2,AMZ2 EXON Missense_T326A,Missense_T326A,Missense_T326A,Missense_T326A,Missense_T268A,Missense_T326A exm1348236 17 66253019 [A/G] NM_001033571,NM_001033572,NM_016627,NM_001033570,NM_001033574,NM_001033569 AMZ2,AMZ2,AMZ2,AMZ2,AMZ2,AMZ2 EXON Missense_H331R,Missense_H331R,Missense_H331R,Missense_H331R,Missense_H273R,Missense_H331R exm1348240 17 66253072 [A/G] NM_001033571,NM_001033572,NM_016627,NM_001033570,NM_001033574,NM_001033569 AMZ2,AMZ2,AMZ2,AMZ2,AMZ2,AMZ2 EXON Missense_E349K,Missense_E349K,Missense_E349K,Missense_E349K,Missense_E291K,Missense_E349K exm1348252 17 66267008 [T/C] NM_014960,NM_001174166,NM_004694 ARSG,SLC16A6,SLC16A6 EXON Silent,Missense_I431M,Missense_I431M exm1348260 17 66267318 [T/C] NM_014960,NM_001174166,NM_004694 ARSG,SLC16A6,SLC16A6 EXON Silent,Missense_R328H,Missense_R328H exm1348269 17 66267508 [T/G] NM_014960,NM_001174166,NM_004694 ARSG,SLC16A6,SLC16A6 EXON Silent,Missense_M265L,Missense_M265L exm1348275 17 66267650 [T/G] NM_014960,NM_001174166,NM_004694 ARSG,SLC16A6,SLC16A6 EXON Silent,Missense_E217D,Missense_E217D exm2253158 17 66267752 [A/G] NM_014960,NM_001174166,NM_004694 ARSG,SLC16A6,SLC16A6 EXON Silent,Synonymous_L183L,Synonymous_L183L exm1348295 17 66270082 [A/G] NM_014960,NM_001174166,NM_004694 ARSG,SLC16A6,SLC16A6 EXON Silent,Missense_I121T,Missense_I121T exm1348303 17 66270179 [T/C] NM_014960,NM_001174166,NM_004694 ARSG,SLC16A6,SLC16A6 EXON Silent,Missense_G89R,Missense_G89R exm2272550 17 66289041 [T/G] NM_014960,NM_001267727 ARSG,ARSG Silent,Silent exm1348318 17 66303666 [T/C] NM_014960,NM_001267727 ARSG,ARSG EXON Missense_A11V,Missense_A11V exm1348339 17 66347790 [T/C] NM_014960,NM_001267727 ARSG,ARSG EXON Missense_P177S,Missense_P177S exm1348343 17 66352836 [A/G] NM_014960,NM_001267727 ARSG,ARSG EXON Missense_V199M,Missense_V199M exm1348351 17 66364691 [C/G] NM_014960,NM_001267727 ARSG,ARSG EXON Missense_T236S,Missense_T236S exm1348361 17 66364750 [A/G] NM_014960,NM_001267727 ARSG,ARSG EXON Missense_V256M,Missense_V256M exm1348362 17 66364769 [T/C] NM_014960,NM_001267727 ARSG,ARSG EXON Missense_A262V,Missense_A262V exm1348365 17 66364804 [T/C] NM_014960,NM_001267727 ARSG,ARSG EXON Missense_W274R,Missense_W274R exm1348367 17 66364811 [T/C] NM_014960,NM_001267727 ARSG,ARSG EXON Missense_M276T,Missense_M276T exm1348368 17 66364819 [C/G] NM_014960,NM_001267727 ARSG,ARSG EXON Missense_L279V,Missense_L279V exm1348372 17 66366659 [C/G] NM_014960,NM_001267727 ARSG,ARSG EXON Missense_R326G,Missense_R326G exm1897952 17 66391215 [A/G] NM_014960,NM_001267727 ARSG,ARSG EXON Missense_V365M,Missense_V365M exm1348383 17 66391276 [A/G] NM_014960,NM_001267727 ARSG,ARSG EXON Missense_R385H,Missense_R385H exm1348386 17 66391314 [T/C] NM_014960,NM_001267727 ARSG,ARSG EXON Missense_R398W,Missense_R398W exm1348393 17 66416357 [T/C] NM_014960,NM_001267727 ARSG,ARSG EXON Missense_T444M,Missense_T444M exm1348397 17 66416438 [A/G] NM_014960,NM_001267727 ARSG,ARSG EXON Missense_G471D,Missense_G471D exm1348401 17 66416504 [T/C] NM_014960,NM_001267727 ARSG,ARSG EXON Missense_I493T,Missense_I493T exm1348404 17 66416512 [A/G] NM_014960,NM_001267727 ARSG,ARSG EXON Missense_D496N,Missense_D496N exm1348407 17 66416527 [A/G] NM_014960,NM_001267727 ARSG,ARSG EXON Missense_A501T,Missense_A501T exm1348422 17 66422292 [A/G] NM_017983 WIPI1 EXON Missense_L406P exm1348432 17 66423332 [T/G] NM_017983 WIPI1 EXON Missense_Q379P exm1348438 17 66425039 [A/C] NM_017983 WIPI1 EXON Missense_S335I exm1348443 17 66426179 [T/C] NM_017983 WIPI1 EXON Missense_R308H exm1348452 17 66430702 [T/C] NM_017983 WIPI1 EXON Missense_M229I exm1348454 17 66430721 [T/C] NM_017983 WIPI1 EXON Missense_Y223C exm1348458 17 66431810 [A/G] NM_017983 WIPI1 EXON Missense_A191V exm1348466 17 66446936 [T/C] NM_017983 WIPI1 EXON Missense_K89R exm1348476 17 66449122 [A/G] NM_017983 WIPI1 EXON Missense_T31I exm1348518 17 66526468 [T/C] NM_212471,NM_212472,NM_001276289,NM_002734,NM_001276290 PRKAR1A,PRKAR1A,PRKAR1A,PRKAR1A,PRKAR1A EXON Missense_R342C,Missense_R342C,Missense_R342C,Missense_R342C,Silent exm1348524 17 66533655 [A/G] NM_001276290,NM_017565,NR_027751,NM_001243746 PRKAR1A,FAM20A,FAM20A,FAM20A EXON Silent,Missense_L530S,Silent,Missense_L392S exm1348530 17 66533733 [A/G] NM_001276290,NM_017565,NR_027751,NM_001243746 PRKAR1A,FAM20A,FAM20A,FAM20A EXON Silent,Missense_T504I,Silent,Missense_T366I exm1898025 17 66533772 [A/G] NM_001276290,NM_017565,NR_027751,NM_001243746 PRKAR1A,FAM20A,FAM20A,FAM20A EXON Silent,Missense_T491I,Silent,Missense_T353I exm1898030 17 66536033 [T/C] NM_001276290,NM_017565,NR_027751,NM_001243746 PRKAR1A,FAM20A,FAM20A,FAM20A EXON Silent,Missense_A432T,Silent,Missense_A294T exm1348552 17 66537043 [T/C] NM_001276290,NM_017565,NR_027751,NM_001243746 PRKAR1A,FAM20A,FAM20A,FAM20A EXON Silent,Missense_N389S,Silent,Missense_N251S exm1348556 17 66537077 [A/G] NM_001276290,NM_017565,NR_027751,NM_001243746 PRKAR1A,FAM20A,FAM20A,FAM20A EXON Silent,Missense_C378R,Silent,Missense_C240R exm1348561 17 66538223 [T/C] NM_001276290,NM_017565,NR_027751,NM_001243746 PRKAR1A,FAM20A,FAM20A,FAM20A EXON Silent,Missense_G338S,Silent,Missense_G200S exm1348563 17 66538239 [T/G] NM_001276290,NM_017565,NR_027751,NM_001243746 PRKAR1A,FAM20A,FAM20A,FAM20A EXON Silent,Missense_N332K,Silent,Missense_N194K exm1348566 17 66538286 [T/C] NM_001276290,NM_017565,NR_027751,NM_001243746 PRKAR1A,FAM20A,FAM20A,FAM20A EXON Silent,Missense_A317T,Silent,Missense_A179T exm1348567 17 66538289 [A/G] NM_001276290,NM_017565,NR_027751,NM_001243746 PRKAR1A,FAM20A,FAM20A,FAM20A EXON Silent,Missense_F316L,Silent,Missense_F178L exm1348571 17 66538936 [T/C] NM_001276290,NM_017565,NR_027751,NM_001243746 PRKAR1A,FAM20A,FAM20A,FAM20A EXON Silent,Missense_R276Q,Silent,Missense_R138Q exm1348586 17 66551716 [T/A] NM_017565,NR_027751,NM_001243746 FAM20A,FAM20A,FAM20A EXON Missense_F191L,Silent,Missense_F53L exm1348587 17 66551727 [T/C] NM_017565,NR_027751,NM_001243746 FAM20A,FAM20A,FAM20A EXON Missense_M188V,Silent,Missense_M50V exm1348590 17 66551763 [G/C] NM_017565,NR_027751,NM_001243746 FAM20A,FAM20A,FAM20A EXON Missense_R176G,Silent,Missense_R38G exm1348593 17 66551822 [T/C] NM_017565,NR_027751,NM_001243746 FAM20A,FAM20A,FAM20A EXON Missense_R156Q,Silent,Missense_R18Q exm1348595 17 66551849 [A/G] NM_017565,NR_027751,NM_001243746 FAM20A,FAM20A,FAM20A EXON Missense_T147I,Silent,Missense_T9I exm1348599 17 66596479 [T/A] NM_017565,NM_001243746 FAM20A,FAM20A EXON Missense_L110Q,Silent exm2277126 17 66596560 [T/C] NM_017565,NM_001243746 FAM20A,FAM20A EXON Missense_G83D,Silent exm2268018 17 66818335 [A/G] exm1348623 17 66864238 [G/C] NM_007168 ABCA8 EXON Missense_Q1578H exm1348624 17 66864240 [A/G] NM_007168 ABCA8 EXON Nonsense_Q1578X exm1348627 17 66864324 [T/C] NM_007168 ABCA8 EXON Missense_V1550I exm1348631 17 66864440 [T/A] NM_007168 ABCA8 Silent exm1348638 17 66871410 [T/C] NM_007168 ABCA8 EXON Missense_R1501Q exm1348642 17 66871468 [C/G] NM_007168 ABCA8 EXON Missense_L1482V exm1348648 17 66871777 [A/T] NM_007168 ABCA8 EXON Missense_I1450F exm1348649 17 66871786 [A/G] NM_007168 ABCA8 EXON Nonsense_R1447X exm1348653 17 66871837 [T/C] NM_007168 ABCA8 EXON Missense_G1430S exm1348656 17 66872604 [A/G] NM_007168 ABCA8 EXON Missense_M1416T exm1348669 17 66872845 [G/C] NM_007168 ABCA8 Silent exm1348670 17 66873660 [T/C] NM_007168 ABCA8 EXON Missense_R1360Q exm1348675 17 66873709 [T/C] NM_007168 ABCA8 EXON Missense_A1344T exm1348686 17 66878033 [A/G] NM_007168 ABCA8 EXON Missense_T1266M exm1348688 17 66878094 [A/G] NM_007168 ABCA8 EXON Missense_R1246C exm1348689 17 66878099 [T/C] NM_007168 ABCA8 EXON Missense_C1244Y exm1348691 17 66878774 [A/G] NM_007168 ABCA8 EXON Missense_T1225I exm1348698 17 66879965 [T/C] NM_007168 ABCA8 EXON Missense_G1185E exm1348699 17 66879975 [A/G] NM_007168 ABCA8 EXON Missense_W1182R exm1348700 17 66879986 [T/C] NM_007168 ABCA8 EXON Missense_R1178Q exm1348702 17 66880018 [T/G] NM_007168 ABCA8 EXON Missense_F1167L exm1348708 17 66881456 [T/C] NM_007168 ABCA8 EXON Missense_V1104I exm1348714 17 66883204 [T/C] NM_007168 ABCA8 EXON Missense_R1088H exm1348715 17 66883223 [T/C] NM_007168 ABCA8 EXON Missense_V1082M exm1898122 17 66883241 [A/G] NM_007168 ABCA8 EXON Missense_L1076F exm1348719 17 66883523 [A/G] NM_007168 ABCA8 EXON Missense_I1050T exm1348721 17 66883548 [T/C] NM_007168 ABCA8 EXON Missense_V1042I exm1348737 17 66890339 [T/C] NM_007168 ABCA8 EXON Missense_R964Q exm1348742 17 66890438 [A/G] NM_007168 ABCA8 EXON Missense_S931L exm1348745 17 66891131 [G/C] NM_007168 ABCA8 EXON Missense_Q890E exm1348752 17 66899471 [T/G] NM_007168 ABCA8 EXON Missense_L816F exm1348756 17 66899515 [A/G] NM_007168 ABCA8 EXON Nonsense_R802X exm1348761 17 66899613 [A/G] NM_007168 ABCA8 EXON Missense_A769V exm1348762 17 66902204 [T/G] NM_007168 ABCA8 EXON Missense_K753N exm1348764 17 66902302 [T/G] NM_007168 ABCA8 EXON Missense_L721I exm1348771 17 66903998 [T/C] NM_007168 ABCA8 EXON Missense_V681I exm1348772 17 66904001 [A/C] NM_007168 ABCA8 EXON Missense_C680G exm1898171 17 66914191 [A/C] NM_007168 ABCA8 EXON Missense_A642S exm1348786 17 66914289 [C/G] NM_007168 ABCA8 EXON Missense_P609R exm1348790 17 66915474 [T/C] NM_007168 ABCA8 EXON Missense_K586E exm1348806 17 66918391 [G/C] NM_007168 ABCA8 EXON Missense_A498G exm1348811 17 66920857 [T/C] NM_007168 ABCA8 EXON Missense_G476E exm1348817 17 66920993 [A/G] NM_007168 ABCA8 EXON Missense_R431C exm1348820 17 66924074 [A/G] NM_007168 ABCA8 EXON Missense_F419S exm1348821 17 66924083 [A/G] NM_007168 ABCA8 EXON Missense_A416V exm1348824 17 66924155 [A/G] NM_007168 ABCA8 EXON Missense_S392L exm1348830 17 66925315 [T/C] NM_007168 ABCA8 EXON Missense_V334M exm1348831 17 66925324 [T/C] NM_007168 ABCA8 EXON Missense_G331S exm1348839 17 66928428 [C/G] NM_007168 ABCA8 Silent exm1348843 17 66928460 [T/C] NM_007168 ABCA8 EXON Missense_T256A exm1348847 17 66928473 [T/C] NM_007168 ABCA8 EXON Missense_M251I exm1348850 17 66928538 [T/C] NM_007168 ABCA8 EXON Missense_I230V exm1348852 17 66928605 [A/T] NM_007168 ABCA8 EXON Missense_K207N exm1348854 17 66929312 [T/C] NM_007168 ABCA8 EXON Missense_I189M exm1898231 17 66929367 [A/T] NM_007168 ABCA8 EXON Missense_V171E exm1348859 17 66929382 [T/G] NM_007168 ABCA8 EXON Missense_Y166S exm1348865 17 66933175 [A/G] NM_007168 ABCA8 EXON Missense_T128I exm1898234 17 66933225 [T/C] NM_007168 ABCA8 EXON Synonymous_E111E exm1348872 17 66937004 [A/G] NM_007168 ABCA8 EXON Missense_R66W exm1898239 17 66937030 [T/G] NM_007168 ABCA8 EXON Missense_S57Y exm1348876 17 66938098 [T/C] NM_007168 ABCA8 EXON Missense_M26I exm1348879 17 66938141 [G/C] NM_007168 ABCA8 EXON Missense_T12S exm1348909 17 66981048 [T/G] NM_080283 ABCA9 EXON Missense_P1453T exm1348916 17 66981234 [T/C] NM_080283 ABCA9 EXON Missense_K1415R exm1348935 17 66985983 [A/G] NM_080283 ABCA9 EXON Missense_T1309I exm1348937 17 66985992 [T/G] NM_080283 ABCA9 EXON Missense_K1306T exm1348940 17 66986016 [T/C] NM_080283 ABCA9 EXON Missense_N1298S exm1348947 17 66988398 [A/G] NM_080283 ABCA9 EXON Missense_H1212Y exm2268054 17 66988666 [A/G] NM_080283 ABCA9 Silent exm1348949 17 66989180 [T/C] NM_080283 ABCA9 EXON Missense_I1201V exm1348951 17 66989195 [T/C] NM_080283 ABCA9 EXON Missense_A1196T exm1898279 17 66992082 [A/G] NM_080283 ABCA9 EXON Missense_L1170S exm1348964 17 67004283 [A/T] NM_080283 ABCA9 EXON Missense_I1081F exm1348968 17 67004376 [A/T] NM_080283 ABCA9 EXON Nonsense_K1050X exm1348976 17 67008178 [T/C] NM_080283 ABCA9 EXON Nonsense_W1029X exm2227052 17 67012412 [C/G] NM_080283 ABCA9 EXON Missense_D1007E exm1348980 17 67012450 [A/G] NM_080283 ABCA9 EXON Missense_L995F exm1348986 17 67013913 [A/G] NM_080283 ABCA9 EXON Missense_F929L exm1348993 17 67014643 [A/G] NM_080283 ABCA9 EXON Missense_P893L exm1348995 17 67014674 [C/G] NM_080283 ABCA9 EXON Missense_L883V exm1349006 17 67017930 [T/C] NM_080283 ABCA9 EXON Missense_N785S exm1898306 17 67017971 [T/G] NM_080283 ABCA9 EXON Missense_N771K exm1898317 17 67023477 [T/A] NM_080283 ABCA9 EXON Missense_D635E exm1349022 17 67023524 [T/C] NM_080283 ABCA9 EXON Missense_G620S exm1349025 17 67023581 [T/C] NM_080283 ABCA9 EXON Missense_V601I exm1349033 17 67024778 [A/G] NM_080283 ABCA9 EXON Missense_F505L exm1349035 17 67025334 [A/G] NM_080283 ABCA9 EXON Missense_C494R exm1349037 17 67025343 [T/C] NM_080283 ABCA9 EXON Missense_A491T exm1349038 17 67025357 [A/C] NM_080283 ABCA9 EXON Missense_L486R exm1349047 17 67029866 [T/C] NM_080283 ABCA9 Silent exm1349049 17 67029868 [A/G] NM_080283 ABCA9 EXON Synonymous_P425P exm1349056 17 67031457 [T/C] NM_080283 ABCA9 EXON Missense_R353H exm1349060 17 67031551 [T/C] NM_080283 ABCA9 EXON Missense_S322G exm1349061 17 67031799 [A/G] NM_080283 ABCA9 Silent exm1349065 17 67031857 [T/C] NM_080283 ABCA9 EXON Missense_V296I exm1349067 17 67031880 [A/G] NM_080283 ABCA9 EXON Missense_I288T exm1349072 17 67039645 [T/C] NM_080283 ABCA9 EXON Missense_R262Q exm1349077 17 67039819 [T/G] NM_080283 ABCA9 EXON Nonsense_S204X exm1349097 17 67045529 [G/C] NM_080283 ABCA9 EXON Missense_R67G exm1349111 17 67075361 [A/G] NM_080284 ABCA6 EXON Missense_T1581I exm1349112 17 67075374 [A/G] NM_080284 ABCA6 EXON Missense_L1577F exm1349115 17 67077237 [T/G] NM_080284 ABCA6 EXON Missense_L1556I exm1349121 17 67079149 [A/G] NM_080284 ABCA6 EXON Missense_I1494T exm1349124 17 67079383 [T/C] NM_080284 ABCA6 EXON Missense_R1482H exm1349125 17 67079441 [G/C] NM_080284 ABCA6 EXON Missense_E1463Q exm1349128 17 67080435 [A/G] NM_080284 ABCA6 EXON Missense_T1441M exm1349129 17 67080442 [A/G] NM_080284 ABCA6 EXON Missense_P1439S exm1349139 17 67081218 [T/C] NM_080284 ABCA6 EXON Missense_A1379T exm1349142 17 67081278 [A/G] NM_080284 ABCA6 EXON Missense_C1359R exm1349148 17 67081830 [T/C] NM_080284 ABCA6 EXON Missense_N1322S exm1349157 17 67082870 [T/C] NM_080284 ABCA6 EXON Missense_V1276I exm1349165 17 67084341 [A/C] NM_080284 ABCA6 EXON Missense_G1222V exm1349166 17 67084360 [A/C] NM_080284 ABCA6 EXON Missense_C1216G exm1349167 17 67085606 [T/C] NM_080284 ABCA6 EXON Missense_I1202M exm1349169 17 67087313 [A/C] NM_080284 ABCA6 EXON Missense_L1167V exm1349172 17 67092427 [T/C] NM_080284 ABCA6 EXON Missense_R1121H exm1349182 17 67092887 [T/C] NM_080284 ABCA6 EXON Missense_C1059Y exm1349183 17 67092905 [T/C] NM_080284 ABCA6 EXON Missense_Y1053C exm1349192 17 67096976 [T/G] NM_080284 ABCA6 EXON Missense_T992P exm1349195 17 67097018 [T/C] NM_080284 ABCA6 EXON Missense_M978V exm1349198 17 67099034 [A/C] NM_080284 ABCA6 EXON Missense_R939I exm1349213 17 67101718 [T/C] NM_080284 ABCA6 EXON Missense_M875I exm1349229 17 67103848 [A/G] NM_080284 ABCA6 EXON Missense_T793I exm1349232 17 67103953 [A/T] NM_080284 ABCA6 EXON Missense_D758V exm1349236 17 67107057 [T/G] NM_080284 ABCA6 EXON Missense_N719K exm1349237 17 67107074 [T/C] NM_080284 ABCA6 EXON Missense_R714G exm1349240 17 67108362 [C/G] NM_080284 ABCA6 EXON Missense_M698I exm1349242 17 67108393 [T/C] NM_080284 ABCA6 EXON Missense_N688S exm1349243 17 67108398 [T/C] NM_080284 ABCA6 EXON Missense_M686I exm1349247 17 67109413 [T/C] NM_080284 ABCA6 EXON Missense_H664R exm1349248 17 67109425 [T/C] NM_080284 ABCA6 EXON Missense_R660H exm1349250 17 67109446 [T/A] NM_080284 ABCA6 EXON Missense_V653E exm1349257 17 67109833 [T/A] NM_080284 ABCA6 EXON Missense_N610Y exm1349260 17 67110941 [T/C] NM_080284 ABCA6 EXON Missense_K582E exm1349261 17 67110991 [T/C] NM_080284 ABCA6 EXON Missense_N565S exm2227062 17 67111564 [T/C] NM_080284 ABCA6 EXON Missense_K520R exm1349269 17 67111575 [T/A] NM_080284 ABCA6 EXON Missense_S516R exm1349270 17 67111579 [T/C] NM_080284 ABCA6 EXON Missense_H515R exm1349274 17 67111603 [C/G] NM_080284 ABCA6 EXON Missense_G507A exm1349275 17 67114065 [T/C] NM_080284 ABCA6 EXON Missense_K490R exm1898417 17 67119548 [A/T] NM_080284 ABCA6 EXON Missense_Y423F exm1898421 17 67121109 [A/G] NM_080284 ABCA6 EXON Missense_M396T exm1349296 17 67125797 [A/C] NM_080284 ABCA6 EXON Missense_G296V exm1349300 17 67125840 [T/C] NM_080284 ABCA6 EXON Missense_V282I exm1349303 17 67129851 [T/C] NM_080284 ABCA6 EXON Missense_N241S exm1349305 17 67129888 [A/G] NM_080284 ABCA6 EXON Missense_L229F exm1349307 17 67129926 [T/G] NM_080284 ABCA6 EXON Missense_N216T exm1898430 17 67129981 [C/G] NM_080284 ABCA6 EXON Missense_E198Q exm1349318 17 67132257 [A/G] NM_080284 ABCA6 EXON Missense_P146S exm1349321 17 67132299 [T/G] NM_080284 ABCA6 EXON Missense_T132P exm1349341 17 67145188 [A/C] NM_080282 ABCA10 EXON Missense_A1507S exm1349346 17 67146149 [A/G] NM_080282 ABCA10 EXON Missense_R1485W exm1349348 17 67146176 [A/G] NM_080282 ABCA10 EXON Missense_P1476S exm1349349 17 67146188 [T/C] NM_080282 ABCA10 EXON Missense_A1472T exm2227065 17 67148503 [T/C] NM_080282 ABCA10 EXON Missense_R1419K exm1349369 17 67149540 [C/G] NM_080282 ABCA10 EXON Missense_L1348V exm1349383 17 67149972 [T/C] NM_080282 ABCA10 EXON Missense_R1322Q exm2227067 17 67150011 [T/C] NM_080282 ABCA10 EXON Missense_K1309R exm1898459 17 67150151 [T/C] NM_080282 ABCA10 Silent exm1349396 17 67151207 [A/C] NM_080282 ABCA10 EXON Missense_R1216I exm1349401 17 67152020 [T/C] NM_080282 ABCA10 EXON Missense_E1168K exm1349411 17 67161107 [C/G] NM_080282 ABCA10 EXON Missense_Q1094E exm1349420 17 67170519 [T/C] NM_080282 ABCA10 EXON Missense_G1022D exm1349425 17 67170812 [A/G] NM_080282 ABCA10 EXON Missense_I995T exm1898488 17 67170885 [C/G] NM_080282 ABCA10 EXON Missense_L971V exm1349434 17 67171593 [T/C] NM_080282 ABCA10 EXON Missense_N944S exm1349438 17 67178316 [A/G] NM_080282 ABCA10 EXON Missense_M916T exm1349444 17 67178422 [A/T] NM_080282 ABCA10 EXON Missense_F881I exm1349459 17 67181719 [T/C] NM_080282 ABCA10 EXON Missense_R799H exm1349464 17 67183892 [A/G] NM_080282 ABCA10 EXON Nonsense_R754X exm1349465 17 67183939 [T/G] NM_080282 ABCA10 EXON Missense_S738Y exm1349468 17 67184008 [A/C] NM_080282 ABCA10 EXON Missense_G715V exm1349470 17 67186505 [T/C] NM_080282 ABCA10 EXON Missense_E709K exm1349475 17 67187340 [A/G] NM_080282 ABCA10 EXON Missense_L663S exm1349478 17 67188731 [T/C] NM_080282 ABCA10 EXON Missense_R615Q exm1349479 17 67188732 [A/G] NM_080282 ABCA10 EXON Nonsense_R615X exm1349484 17 67189302 [A/G] NM_080282 ABCA10 EXON Nonsense_R577X exm2253162 17 67189973 [T/C] NM_080282 ABCA10 EXON Synonymous_P501P exm1349499 17 67190540 [A/G] NM_080282 ABCA10 EXON Missense_S444F exm1349502 17 67190568 [T/C] NM_080282 ABCA10 EXON Missense_T435A exm1349503 17 67190619 [A/G] NM_080282 ABCA10 EXON Missense_Y418H exm1349511 17 67197701 [T/G] NM_080282 ABCA10 EXON Missense_H372P exm1349514 17 67210856 [T/C] NM_080282 ABCA10 EXON Missense_R332Q exm1349521 17 67210992 [T/C] NM_080282 ABCA10 EXON Missense_I287V exm1349524 17 67211985 [T/G] NM_080282 ABCA10 EXON Missense_P277T exm1349528 17 67212123 [T/C] NM_080282 ABCA10 EXON Missense_M231V exm1349531 17 67212390 [A/G] NM_080282 ABCA10 EXON Missense_F214L exm1349533 17 67212419 [A/G] NM_080282 ABCA10 EXON Missense_I204T exm1349535 17 67212423 [A/G] NM_080282 ABCA10 EXON Missense_P203S exm1349539 17 67215702 [A/G] NM_080282 ABCA10 EXON Nonsense_R172X exm1349541 17 67215717 [T/C] NM_080282 ABCA10 EXON Missense_T167A exm1349542 17 67215746 [T/C] NM_080282 ABCA10 EXON Missense_R157K exm1349549 17 67215869 [A/G] NM_080282 ABCA10 EXON Missense_I116T exm1349554 17 67217999 [G/C] NM_080282 ABCA10 EXON Nonsense_Y79X exm1349556 17 67218018 [T/G] NM_080282 ABCA10 EXON Missense_H73P exm1349558 17 67218036 [T/C] NM_080282 ABCA10 EXON Missense_E67G exm1349560 17 67218672 [A/G] NM_080282 ABCA10 Silent exm1349595 17 67247900 [G/C] NM_018672,NM_172232 ABCA5,ABCA5 EXON Missense_S1508C,Missense_S1508C exm1349604 17 67249934 [T/C] NM_018672,NM_172232 ABCA5,ABCA5 Silent,Silent exm1349605 17 67249997 [A/G] NM_018672,NM_172232 ABCA5,ABCA5 EXON Missense_L1420F,Missense_L1420F exm1898595 17 67250466 [T/C] NM_018672,NM_172232 ABCA5,ABCA5 EXON Missense_V1412I,Missense_V1412I exm1349617 17 67251907 [T/C] NM_018672,NM_172232 ABCA5,ABCA5 EXON Missense_A1315T,Missense_A1315T exm1349626 17 67252378 [T/C] NM_018672,NM_172232 ABCA5,ABCA5 EXON Missense_D1260N,Missense_D1260N exm1349628 17 67252413 [A/G] NM_018672,NM_172232 ABCA5,ABCA5 EXON Missense_T1248M,Missense_T1248M exm1349636 17 67257313 [T/C] NM_018672,NM_172232 ABCA5,ABCA5 EXON Missense_I1173V,Missense_I1173V exm1349637 17 67257330 [T/C] NM_018672,NM_172232 ABCA5,ABCA5 EXON Missense_H1167R,Missense_H1167R exm1349639 17 67257355 [T/C] NM_018672,NM_172232 ABCA5,ABCA5 EXON Missense_G1159R,Missense_G1159R exm1349644 17 67260904 [T/C] NM_018672,NM_172232 ABCA5,ABCA5 EXON Missense_Y1096C,Missense_Y1096C exm1349645 17 67260917 [T/G] NM_018672,NM_172232 ABCA5,ABCA5 EXON Missense_H1092N,Missense_H1092N exm1349651 17 67264083 [T/C] NM_018672,NM_172232 ABCA5,ABCA5 Silent,Silent exm1349659 17 67266772 [A/C] NM_018672,NM_172232 ABCA5,ABCA5 EXON Missense_W1004C,Missense_W1004C exm1349662 17 67266828 [T/C] NM_018672,NM_172232 ABCA5,ABCA5 EXON Missense_I986V,Missense_I986V exm1349665 17 67267317 [T/C] NM_018672,NM_172232 ABCA5,ABCA5 EXON Missense_M960V,Missense_M960V exm1349670 17 67267355 [A/T] NM_018672,NM_172232 ABCA5,ABCA5 EXON Missense_Y947F,Missense_Y947F exm1349672 17 67267376 [A/G] NM_018672,NM_172232 ABCA5,ABCA5 EXON Missense_T940M,Missense_T940M exm1349681 17 67270252 [A/G] NM_018672,NM_172232 ABCA5,ABCA5 EXON Missense_I871T,Missense_I871T exm1349688 17 67273839 [T/G] NM_018672,NM_172232 ABCA5,ABCA5 EXON Missense_T846K,Missense_T846K exm2227076 17 67273842 [T/C] NM_018672,NM_172232 ABCA5,ABCA5 EXON Missense_Y845C,Missense_Y845C exm1349690 17 67273882 [A/C] NM_018672,NM_172232 ABCA5,ABCA5 EXON Missense_A832S,Missense_A832S exm1349691 17 67273885 [T/C] NM_018672,NM_172232 ABCA5,ABCA5 EXON Missense_A831T,Missense_A831T exm1349693 17 67273927 [A/C] NM_018672,NM_172232 ABCA5,ABCA5 EXON Missense_D817Y,Missense_D817Y exm1349694 17 67273928 [T/A] NM_018672,NM_172232 ABCA5,ABCA5 EXON Missense_F816L,Missense_F816L exm1349697 17 67280150 [A/G] NM_018672,NM_172232 ABCA5,ABCA5 EXON Missense_T779M,Missense_T779M exm1349699 17 67280184 [T/C] NM_018672,NM_172232 ABCA5,ABCA5 EXON Missense_N768D,Missense_N768D exm1349714 17 67283789 [T/C] NM_018672,NM_172232 ABCA5,ABCA5 EXON Missense_S669N,Missense_S669N exm2274976 17 67283844 [A/G] NM_018672,NM_172232 ABCA5,ABCA5 EXON Missense_H651Y,Missense_H651Y exm1349722 17 67286029 [A/T] NM_018672,NM_172232 ABCA5,ABCA5 EXON Missense_I586L,Missense_I586L exm1349726 17 67287358 [A/G] NM_018672,NM_172232 ABCA5,ABCA5 EXON Synonymous_D535D,Synonymous_D535D exm2253163 17 67290812 [A/G] NM_018672,NM_172232 ABCA5,ABCA5 EXON Synonymous_N493N,Synonymous_N493N exm1349738 17 67290840 [T/C] NM_018672,NM_172232 ABCA5,ABCA5 EXON Missense_Q484R,Missense_Q484R exm1349741 17 67293363 [A/C] NM_018672,NM_172232 ABCA5,ABCA5 EXON Missense_S469A,Missense_S469A exm1898650 17 67299017 [A/G] NM_018672,NM_172232 ABCA5,ABCA5 EXON Missense_F321L,Missense_F321L exm1349760 17 67300925 [C/G] NM_018672,NM_172232 ABCA5,ABCA5 EXON Missense_S272T,Missense_S272T exm1898658 17 67303010 [T/G] NM_018672,NM_172232 ABCA5,ABCA5 EXON Missense_T215N,Missense_T215N exm1349767 17 67303085 [T/C] NM_018672,NM_172232 ABCA5,ABCA5 EXON Missense_N190S,Missense_N190S exm1349771 17 67304447 [T/C] NM_018672,NM_172232 ABCA5,ABCA5 EXON Missense_A178T,Missense_A178T exm1349773 17 67304498 [T/C] NM_018672,NM_172232 ABCA5,ABCA5 EXON Missense_K161E,Missense_K161E exm1898660 17 67305519 [A/G] NM_018672,NM_172232 ABCA5,ABCA5 EXON Missense_S118F,Missense_S118F exm1349779 17 67309244 [T/C] NM_018672,NM_172232 ABCA5,ABCA5 EXON Missense_H99R,Missense_H99R exm1349780 17 67309271 [T/C] NM_018672,NM_172232 ABCA5,ABCA5 EXON Missense_S90N,Missense_S90N exm1349789 17 67310516 [A/G] NM_018672,NM_172232 ABCA5,ABCA5 EXON Missense_T14I,Missense_T14I exm2272551 17 67486221 [T/C] NM_002758 MAP2K6 Silent exm1349795 17 67501987 [T/C] NM_002758 MAP2K6 EXON Missense_T28I exm1349802 17 67513674 [T/A] NM_002758 MAP2K6 EXON Missense_I56L exm1349807 17 67515490 [T/C] NM_002758 MAP2K6 EXON Missense_R95W exm1349818 17 67522730 [A/G] NM_002758 MAP2K6 EXON Missense_R254Q exm2272607 17 67992704 [T/C] exm-rs11867479 17 68090207 [T/C] NM_018658,NM_170741,NM_001270422 KCNJ16,KCNJ16,KCNJ16 Silent,Silent,Silent exm1349832 17 68128241 [A/G] NM_018658,NM_170741,NM_001270422 KCNJ16,KCNJ16,KCNJ16 EXON Missense_G5S,Missense_G5S,Missense_G5S exm1349833 17 68128259 [A/G] NM_018658,NM_170741,NM_001270422 KCNJ16,KCNJ16,KCNJ16 EXON Missense_I11V,Missense_I11V,Missense_I11V exm1349836 17 68128332 [A/G] NM_018658,NM_170741,NM_001270422 KCNJ16,KCNJ16,KCNJ16 EXON Missense_R35Q,Missense_R35Q,Missense_R35Q exm1349846 17 68128517 [T/C] NM_018658,NM_170741,NM_001270422 KCNJ16,KCNJ16,KCNJ16 EXON Missense_F97L,Missense_F97L,Missense_F97L exm1349849 17 68128587 [A/G] NM_018658,NM_170741,NM_001270422 KCNJ16,KCNJ16,KCNJ16 EXON Missense_G120E,Missense_G120E,Missense_G120E exm2277127 17 68128587 [C/G] NM_018658,NM_170741,NM_001270422 KCNJ16,KCNJ16,KCNJ16 EXON Missense_G120A,Missense_G120A,Missense_G120A exm1898714 17 68128754 [T/C] NM_018658,NM_170741,NM_001270422 KCNJ16,KCNJ16,KCNJ16 EXON Nonsense_R176X,Nonsense_R176X,Nonsense_R176X exm1349860 17 68128847 [T/C] NM_018658,NM_170741,NM_001270422 KCNJ16,KCNJ16,KCNJ16 EXON Missense_R207W,Missense_R207W,Missense_R207W exm1349861 17 68128892 [T/C] NM_018658,NM_170741,NM_001270422 KCNJ16,KCNJ16,KCNJ16 EXON Missense_R222C,Missense_R222C,Missense_R222C exm1349864 17 68128902 [T/A] NM_018658,NM_170741,NM_001270422 KCNJ16,KCNJ16,KCNJ16 EXON Missense_E225V,Missense_E225V,Missense_E225V exm1349866 17 68128923 [T/C] NM_018658,NM_170741,NM_001270422 KCNJ16,KCNJ16,KCNJ16 EXON Missense_T232M,Missense_T232M,Missense_T232M exm1349871 17 68128977 [T/C] NM_018658,NM_170741,NM_001270422 KCNJ16,KCNJ16,KCNJ16 EXON Missense_P250L,Missense_P250L,Missense_P250L exm1349881 17 68129133 [A/G] NM_018658,NM_170741,NM_001270422 KCNJ16,KCNJ16,KCNJ16 EXON Missense_R302Q,Missense_R302Q,Missense_R302Q exm1349888 17 68129307 [A/G] NM_018658,NM_170741,NM_001270422 KCNJ16,KCNJ16,KCNJ16 EXON Missense_R360Q,Missense_R360Q,Missense_R360Q exm1349893 17 68129339 [T/C] NM_018658,NM_170741,NM_001270422 KCNJ16,KCNJ16,KCNJ16 EXON Nonsense_R371X,Nonsense_R371X,Nonsense_R371X exm1349909 17 68171457 [A/G] NM_000891 KCNJ2 EXON Missense_V93I exm1349927 17 68171796 [A/G] NM_000891 KCNJ2 EXON Missense_G206S exm1349934 17 68172153 [T/C] NM_000891 KCNJ2 EXON Missense_R325C exm1349948 17 68172409 [A/G] NM_000891 KCNJ2 EXON Missense_N410S exm-rs8079702 17 68190826 [A/G] exm2272552 17 68217860 [T/C] exm-rs6501384 17 68291133 [T/C] exm-rs17779747 17 68494992 [T/G] exm2272553 17 68900605 [T/G] exm-rs1859962 17 69108753 [T/G] exm2260696 17 69233083 [T/C] exm2264634 17 69347242 [A/C] exm-rs7217976 17 69481277 [A/C] exm2264635 17 69676169 [A/C] exm2272609 17 69692689 [T/G] exm-rs2158917 17 69926109 [T/C] exm1350072 17 70119912 [G/C] NM_000346 SOX9 EXON Missense_G305A exm1350101 17 70120508 [A/G] NM_000346 SOX9 EXON Missense_T504A exm2272554 17 70317988 [T/C] exm2264636 17 70441787 [A/C] NR_036488 LINC00673 Silent exm1350117 17 70645012 [T/C] NM_139177,NM_001159770 SLC39A11,SLC39A11 EXON Missense_A287T,Missense_A294T exm1350119 17 70645032 [A/G] NM_139177,NM_001159770 SLC39A11,SLC39A11 EXON Missense_A280V,Missense_A287V exm1350121 17 70645095 [G/C] NM_139177,NM_001159770 SLC39A11,SLC39A11 EXON Missense_G259A,Missense_G266A exm1350125 17 70645342 [T/C] NM_139177,NM_001159770 SLC39A11,SLC39A11 EXON Missense_R246Q,Missense_R253Q exm1350130 17 70645366 [C/G] NM_139177,NM_001159770 SLC39A11,SLC39A11 EXON Missense_G238A,Missense_G245A exm-rs8066857 17 70696103 [T/C] NM_139177,NM_001159770 SLC39A11,SLC39A11 Silent,Silent exm2260701 17 70712513 [A/G] NM_139177,NM_001159770 SLC39A11,SLC39A11 Silent,Silent exm1350136 17 70732828 [C/G] NM_139177,NM_001159770 SLC39A11,SLC39A11 EXON Missense_A211G,Missense_A218G exm1350141 17 70845790 [A/G] NM_139177,NM_001159770 SLC39A11,SLC39A11 EXON Missense_T195I,Missense_T202I exm1350150 17 70845943 [A/T] NM_139177,NM_001159770 SLC39A11,SLC39A11 EXON Missense_D144V,Missense_D151V exm1350155 17 70943995 [T/C] NM_139177,NM_001159770 SLC39A11,SLC39A11 EXON Missense_Q109R,Missense_Q109R exm1350157 17 70944008 [T/C] NM_139177,NM_001159770 SLC39A11,SLC39A11 EXON Missense_A105T,Missense_A105T exm1350159 17 71027745 [T/C] NM_139177,NM_001159770 SLC39A11,SLC39A11 EXON Missense_T86A,Missense_T86A exm1350161 17 71027781 [T/C] NM_139177,NM_001159770 SLC39A11,SLC39A11 EXON Missense_G74S,Missense_G74S exm1350165 17 71027802 [A/C] NM_139177,NM_001159770 SLC39A11,SLC39A11 EXON Missense_A67S,Missense_A67S exm1350169 17 71080981 [T/C] NM_139177,NM_001159770 SLC39A11,SLC39A11 EXON Missense_R38Q,Missense_R38Q exm1350173 17 71084803 [T/C] NM_139177,NM_001159770 SLC39A11,SLC39A11 EXON Missense_S34N,Missense_S34N exm1350177 17 71084834 [A/C] NM_139177,NM_001159770 SLC39A11,SLC39A11 EXON Missense_A24S,Missense_A24S exm2272555 17 71119820 [T/C] exm2253178 17 71165470 [A/G] NM_001050 SSTR2 EXON Synonymous_A4A exm1350185 17 71165538 [T/C] NM_001050 SSTR2 EXON Missense_S27L exm1350191 17 71165666 [T/C] NM_001050 SSTR2 EXON Missense_R70C exm1350199 17 71165820 [T/C] NM_001050 SSTR2 EXON Missense_V121A exm1350232 17 71189266 [G/C] NM_018714 COG1 EXON Missense_A20P exm1350263 17 71192877 [G/C] NM_018714 COG1 EXON Missense_A183P exm2227108 17 71193043 [A/G] NM_018714 COG1 EXON Missense_T189A exm1350272 17 71193053 [A/C] NM_018714 COG1 EXON Missense_H192P exm1899072 17 71193091 [A/G] NM_018714 COG1 EXON Missense_D205N exm1350279 17 71193397 [T/G] NM_018714 COG1 EXON Missense_V259L exm1350281 17 71193460 [A/C] NM_018714 COG1 EXON Missense_L280M exm1350295 17 71196139 [T/C] NM_018714 COG1 EXON Missense_T350M exm1350299 17 71196751 [A/G] NM_018714 COG1 EXON Missense_V373M exm1350300 17 71196766 [C/G] NM_018714 COG1 EXON Missense_G378R exm1350304 17 71196809 [A/G] NM_018714 COG1 EXON Missense_N392S exm1350305 17 71196817 [A/C] NM_018714 COG1 EXON Missense_T395P exm1350318 17 71197323 [G/C] NM_018714 COG1 EXON Missense_E453Q exm1350335 17 71197678 [A/G] NM_018714 COG1 EXON Missense_R571Q exm1350357 17 71199772 [T/C] NM_018714 COG1 EXON Missense_P741L exm1350359 17 71199781 [A/G] NM_018714 COG1 EXON Missense_Y744C exm1350373 17 71201723 [A/G] NM_018714 COG1 EXON Missense_R805Q exm2253179 17 71201727 [A/G] NM_018714 COG1 EXON Synonymous_A806A exm1350377 17 71201794 [A/C] NM_018714 COG1 EXON Missense_S829R exm1350388 17 71202891 [T/C] NM_018714 COG1 EXON Synonymous_P888P exm1350393 17 71203342 [A/G] NM_018714 COG1 EXON Missense_M918V exm1350409 17 71204547 [G/C] NM_018714,NM_032837,NM_001098832 COG1,FAM104A,FAM104A EXON Missense_P967R,Silent,Silent exm1899105 17 71205787 [T/C] NM_032837,NM_001098832 FAM104A,FAM104A EXON Missense_T148A,Missense_T169A exm1350422 17 71205831 [A/G] NM_032837,NM_001098832 FAM104A,FAM104A EXON Missense_P133L,Missense_P154L exm1350428 17 71223362 [A/G] NM_032837,NM_001098832 FAM104A,FAM104A EXON Missense_P88L,Missense_P88L exm2227109 17 71223379 [T/G] NM_032837,NM_001098832 FAM104A,FAM104A EXON Missense_E82D,Missense_E82D exm1350443 17 71228379 [G/C] NM_032837,NM_001098832 FAM104A,FAM104A EXON Missense_P23A,Missense_P23A exm1350459 17 71231868 [A/G] NM_001100621,NM_017941,NM_001100622 C17orf80,C17orf80,C17orf80 EXON Missense_V83M,Missense_V83M,Missense_V83M exm1350461 17 71231881 [A/G] NM_001100621,NM_017941,NM_001100622 C17orf80,C17orf80,C17orf80 EXON Missense_E87G,Missense_E87G,Missense_E87G exm1350466 17 71232045 [A/G] NM_001100621,NM_017941,NM_001100622 C17orf80,C17orf80,C17orf80 EXON Missense_A142T,Missense_A142T,Missense_A142T exm1350467 17 71232109 [A/G] NM_001100621,NM_017941,NM_001100622 C17orf80,C17orf80,C17orf80 EXON Missense_R163Q,Missense_R163Q,Missense_R163Q exm1350473 17 71232297 [A/G] NM_001100621,NM_017941,NM_001100622 C17orf80,C17orf80,C17orf80 EXON Missense_G226S,Missense_G226S,Missense_G226S exm1350476 17 71232391 [A/G] NM_001100621,NM_017941,NM_001100622 C17orf80,C17orf80,C17orf80 EXON Missense_H257R,Missense_H257R,Missense_H257R exm1350487 17 71232510 [A/G] NM_001100621,NM_017941,NM_001100622 C17orf80,C17orf80,C17orf80 EXON Missense_E297K,Missense_E297K,Missense_E297K exm1350489 17 71232547 [A/G] NM_001100621,NM_017941,NM_001100622 C17orf80,C17orf80,C17orf80 EXON Missense_S309N,Missense_S309N,Missense_S309N exm1350490 17 71232585 [A/C] NM_001100621,NM_017941,NM_001100622 C17orf80,C17orf80,C17orf80 EXON Missense_K322Q,Missense_K322Q,Missense_K322Q exm1350494 17 71232628 [A/C] NM_001100621,NM_017941,NM_001100622 C17orf80,C17orf80,C17orf80 EXON Missense_N336T,Missense_N336T,Missense_N336T exm1350495 17 71232631 [T/C] NM_001100621,NM_017941,NM_001100622 C17orf80,C17orf80,C17orf80 EXON Missense_T337I,Missense_T337I,Missense_T337I exm1350497 17 71232687 [T/C] NM_001100621,NM_017941,NM_001100622 C17orf80,C17orf80,C17orf80 EXON Missense_F356L,Missense_F356L,Missense_F356L exm1350500 17 71232710 [C/G] NM_001100621,NM_017941,NM_001100622 C17orf80,C17orf80,C17orf80 EXON Nonsense_Y363X,Nonsense_Y363X,Nonsense_Y363X exm1350505 17 71232804 [A/C] NM_001100621,NM_017941,NM_001100622 C17orf80,C17orf80,C17orf80 EXON Missense_H395N,Missense_H395N,Missense_H395N exm1350506 17 71232807 [T/C] NM_001100621,NM_017941,NM_001100622 C17orf80,C17orf80,C17orf80 EXON Missense_C396R,Missense_C396R,Missense_C396R exm1350507 17 71232814 [A/C] NM_001100621,NM_017941,NM_001100622 C17orf80,C17orf80,C17orf80 EXON Missense_P398H,Missense_P398H,Missense_P398H exm1350514 17 71232881 [G/C] NM_001100621,NM_017941,NM_001100622 C17orf80,C17orf80,C17orf80 EXON Missense_Q420H,Missense_Q420H,Missense_Q420H exm2253181 17 71232911 [T/C] NM_001100621,NM_017941,NM_001100622 C17orf80,C17orf80,C17orf80 EXON Synonymous_S430S,Synonymous_S430S,Synonymous_S430S exm1350517 17 71232931 [A/G] NM_001100621,NM_017941,NM_001100622 C17orf80,C17orf80,C17orf80 EXON Missense_R437H,Missense_R437H,Missense_R437H exm1350522 17 71232990 [A/C] NM_001100621,NM_017941,NM_001100622 C17orf80,C17orf80,C17orf80 EXON Missense_R457S,Missense_R457S,Missense_R457S exm1899132 17 71233128 [T/C] NM_001100621,NM_017941,NM_001100622 C17orf80,C17orf80,C17orf80 EXON Missense_S503P,Missense_S503P,Missense_S503P exm1350530 17 71238433 [A/G] NM_001100621,NM_017941,NM_001100622 C17orf80,C17orf80,C17orf80 EXON Silent,Missense_A522T,Missense_A522T exm1350532 17 71238452 [A/G] NM_001100621,NM_017941,NM_001100622 C17orf80,C17orf80,C17orf80 EXON Silent,Missense_N528S,Missense_N528S exm1350533 17 71238491 [A/G] NM_001100621,NM_017941,NM_001100622 C17orf80,C17orf80,C17orf80 Silent,Silent,Silent exm1350543 17 71239136 [T/C] NM_001100621,NM_017941,NM_001100622 C17orf80,C17orf80,C17orf80 EXON Missense_R539C,Missense_R575C,Missense_R575C exm1350544 17 71239137 [A/G] NM_001100621,NM_017941,NM_001100622 C17orf80,C17orf80,C17orf80 EXON Missense_R539H,Missense_R575H,Missense_R575H exm1350549 17 71241306 [A/G] NM_001100621,NM_017941,NM_001100622 C17orf80,C17orf80,C17orf80 Silent,Silent,Silent exm1350551 17 71241315 [T/C] NM_001100621,NM_017941,NM_001100622 C17orf80,C17orf80,C17orf80 EXON Silent,Silent,Missense_R580W exm1350552 17 71241322 [A/G] NM_001100621,NM_017941,NM_001100622 C17orf80,C17orf80,C17orf80 EXON Silent,Silent,Missense_R582H exm1350554 17 71243391 [T/C] NM_001100621,NM_017941 C17orf80,C17orf80 EXON Nonsense_R545X,Nonsense_R581X exm1350557 17 71243451 [A/G] NM_001100621,NM_017941 C17orf80,C17orf80 EXON Missense_D565N,Missense_D601N exm1350570 17 71244668 [A/G] NM_001100621,NM_017941,NM_001129885 C17orf80,C17orf80,CPSF4L EXON Silent,Silent,Missense_R169W exm1350586 17 71257108 [A/C] NM_001129885 CPSF4L EXON Missense_V40L exm1350598 17 71281676 [T/C] NM_012121 CDC42EP4 EXON Missense_S322G exm1350602 17 71281760 [T/C] NM_012121 CDC42EP4 EXON Missense_G294S exm1350621 17 71282050 [A/G] NM_012121 CDC42EP4 EXON Missense_T197M exm1899194 17 71282243 [T/C] NM_012121 CDC42EP4 EXON Missense_S133G exm1350638 17 71282336 [T/C] NM_012121 CDC42EP4 EXON Missense_M102V exm1350659 17 71334757 [A/G] NM_001144952 SDK2 EXON Missense_A2163V exm1350665 17 71334838 [A/G] NM_001144952 SDK2 EXON Missense_T2136M exm1350666 17 71334862 [T/C] NM_001144952 SDK2 EXON Missense_R2128Q exm1350669 17 71334907 [T/G] NM_001144952 SDK2 EXON Missense_T2113N exm1350672 17 71334937 [A/G] NM_001144952 SDK2 EXON Missense_T2103M exm1350674 17 71334983 [A/G] NM_001144952 SDK2 EXON Missense_R2088W exm-rs3816995 17 71335260 [A/G] NM_001144952 SDK2 Silent exm1350693 17 71346479 [T/C] NM_001144952 SDK2 EXON Missense_E1979K exm1350694 17 71346513 [T/C] NM_001144952 SDK2 EXON Synonymous_G1967G exm1350703 17 71348690 [T/C] NM_001144952 SDK2 EXON Missense_V1894M exm1350722 17 71357828 [T/C] NM_001144952 SDK2 EXON Missense_G1821E exm1350734 17 71361418 [T/C] NM_001144952 SDK2 EXON Missense_E1762K exm1350735 17 71361423 [A/C] NM_001144952 SDK2 EXON Missense_V1760G exm1350736 17 71361436 [T/C] NM_001144952 SDK2 EXON Missense_G1756S exm1350744 17 71361526 [T/C] NM_001144952 SDK2 EXON Missense_A1726T exm1350752 17 71364662 [A/C] NM_001144952 SDK2 EXON Missense_S1684I exm2276538 17 71364711 [A/G] NM_001144952 SDK2 EXON Missense_R1668W exm1350767 17 71375670 [T/C] NM_001144952 SDK2 EXON Missense_R1594Q exm1350768 17 71377042 [T/C] NM_001144952 SDK2 EXON Missense_E1585K exm1350776 17 71380062 [A/G] NM_001144952 SDK2 EXON Missense_T1553M exm1350779 17 71380087 [C/G] NM_001144952 SDK2 EXON Missense_L1545V exm1350801 17 71384030 [A/C] NM_001144952 SDK2 EXON Missense_W1447G exm1350821 17 71386497 [T/C] NM_001144952 SDK2 EXON Missense_R1374H exm1350835 17 71387593 [T/C] NM_001144952 SDK2 EXON Missense_N1328S exm1350836 17 71387623 [T/C] NM_001144952 SDK2 EXON Missense_R1318Q exm1350841 17 71389744 [T/C] NM_001144952 SDK2 EXON Missense_G1285S exm1350844 17 71389804 [T/C] NM_001144952 SDK2 EXON Missense_G1265S exm1350847 17 71389819 [T/C] NM_001144952 SDK2 EXON Missense_S1260G exm2253182 17 71389826 [T/C] NM_001144952 SDK2 EXON Synonymous_S1257S exm1350862 17 71391320 [A/G] NM_001144952 SDK2 EXON Missense_T1189M exm1899339 17 71391372 [A/G] NM_001144952 SDK2 EXON Missense_R1172C exm1350868 17 71391423 [C/G] NM_001144952 SDK2 EXON Missense_R1155G exm1350871 17 71391467 [T/C] NM_001144952 SDK2 EXON Missense_R1140Q exm1350881 17 71394502 [A/G] NM_001144952 SDK2 EXON Missense_R1054C exm1350884 17 71395387 [T/C] NM_001144952 SDK2 EXON Missense_G1005S exm2253183 17 71397190 [A/G] NM_001144952 SDK2 EXON Synonymous_S980S exm1350896 17 71397270 [A/G] NM_001144952 SDK2 EXON Missense_R954C exm1350899 17 71397309 [A/G] NM_001144952 SDK2 EXON Missense_R941C exm1350902 17 71397320 [T/C] NM_001144952 SDK2 EXON Missense_R937Q exm1350904 17 71397326 [T/C] NM_001144952 SDK2 EXON Missense_Y935C exm1350917 17 71410819 [T/G] NM_001144952 SDK2 EXON Missense_S816R exm1350920 17 71410841 [T/C] NM_001144952 SDK2 EXON Missense_R809H exm2253184 17 71410891 [T/C] NM_001144952 SDK2 EXON Synonymous_T792T exm1350929 17 71411980 [T/C] NM_001144952 SDK2 EXON Missense_S780G exm1350935 17 71412118 [T/C] NM_001144952 SDK2 EXON Missense_G734R exm1350958 17 71419555 [T/G] NM_001144952 SDK2 EXON Missense_I623L exm1350962 17 71419615 [T/C] NM_001144952 SDK2 EXON Missense_V603M exm1350973 17 71420118 [A/G] NM_001144952 SDK2 EXON Missense_T566M exm1350975 17 71420175 [A/C] NM_001144952 SDK2 EXON Missense_R547L exm1350979 17 71426656 [T/G] NM_001144952 SDK2 EXON Missense_T526N exm1351004 17 71431640 [T/C] NM_001144952 SDK2 EXON Missense_A382T exm1351006 17 71431662 [T/A] NM_001144952 SDK2 EXON Missense_D374E exm1351007 17 71431667 [T/C] NM_001144952 SDK2 EXON Missense_D373N exm1351018 17 71434193 [T/C] NM_001144952 SDK2 EXON Missense_G276S exm1351019 17 71434217 [A/G] NM_001144952 SDK2 EXON Missense_R268W exm1351027 17 71443835 [T/C] NM_001144952 SDK2 EXON Missense_A178T exm1351033 17 71452153 [A/G] NM_001144952 SDK2 EXON Missense_V124A exm2253185 17 71468327 [A/G] NM_001144952 SDK2 EXON Synonymous_H85H exm1351043 17 71468356 [A/G] NM_001144952 SDK2 EXON Missense_Y76H exm2253187 17 71503636 [T/C] NM_001144952 SDK2 EXON Synonymous_P55P exm2260702 17 71774648 [T/C] NR_027146 LINC00469 Silent exm2253188 17 71970337 [T/G] exm1351077 17 72205447 [T/C] NM_000999,NM_001035258 RPL38,RPL38 EXON Synonymous_P62P,Synonymous_P62P exm1899596 17 72227032 [T/C] NM_032646 TTYH2 EXON Missense_A103V exm1351106 17 72227040 [A/G] NM_032646 TTYH2 EXON Missense_V106I exm1351108 17 72227077 [T/C] NM_032646 TTYH2 EXON Missense_A118V exm1351112 17 72227110 [A/G] NM_032646 TTYH2 EXON Missense_N129S exm1351118 17 72233484 [T/C] NM_032646 TTYH2 EXON Missense_R156W exm1351119 17 72233485 [A/G] NM_032646 TTYH2 EXON Missense_R156Q exm1351124 17 72233559 [A/G] NM_032646 TTYH2 EXON Missense_V181I exm1351127 17 72233605 [T/C] NM_032646 TTYH2 EXON Missense_M196T exm1351130 17 72239586 [T/C] NM_032646 TTYH2 EXON Missense_R237C exm2227132 17 72239587 [A/G] NM_032646 TTYH2 EXON Missense_R237H exm1351134 17 72240168 [A/G] NM_032646 TTYH2 EXON Missense_A262T exm1351135 17 72240177 [T/G] NM_032646 TTYH2 EXON Missense_S265A exm1351158 17 72246483 [A/G] NM_032646,NM_052869 TTYH2,TTYH2 EXON Missense_R368Q,Missense_R47Q exm1351170 17 72248482 [A/C] NM_032646,NM_052869 TTYH2,TTYH2 EXON Missense_A409E,Missense_A88E exm1351173 17 72248512 [T/C] NM_032646,NM_052869 TTYH2,TTYH2 EXON Missense_T419I,Missense_T98I exm1351175 17 72249229 [A/C] NM_032646,NM_052869 TTYH2,TTYH2 EXON Missense_D423E,Missense_D102E exm1351179 17 72249297 [T/C] NM_032646,NM_052869 TTYH2,TTYH2 EXON Missense_P446L,Missense_P125L exm1351181 17 72249305 [G/C] NM_032646,NM_052869 TTYH2,TTYH2 EXON Missense_Q449E,Missense_Q128E exm1351182 17 72249308 [G/C] NM_032646,NM_052869 TTYH2,TTYH2 EXON Missense_L450V,Missense_L129V exm1351183 17 72249315 [A/G] NM_032646,NM_052869 TTYH2,TTYH2 EXON Missense_S452N,Missense_S131N exm1899626 17 72249389 [A/C] NM_032646,NM_052869 TTYH2,TTYH2 EXON Missense_P477T,Missense_P156T exm1351190 17 72249398 [A/G] NM_032646,NM_052869 TTYH2,TTYH2 EXON Missense_E480K,Missense_E159K exm1351191 17 72249913 [T/G] NM_032646,NM_052869 TTYH2,TTYH2 EXON Missense_G489C,Missense_G168C exm1351192 17 72249925 [T/C] NM_032646,NM_052869 TTYH2,TTYH2 EXON Missense_R493C,Missense_R172C exm1351195 17 72249937 [A/G] NM_032646,NM_052869 TTYH2,TTYH2 EXON Missense_V497M,Missense_V176M exm2273557 17 72257713 [T/C] NM_032646,NM_052869 TTYH2,TTYH2 EXON Silent,Silent exm-rs7219585 17 72268208 [A/G] exm1351212 17 72278071 [A/G] NM_023036,NM_001172810 DNAI2,DNAI2 EXON Missense_E39K,Missense_E39K exm1351213 17 72278080 [A/G] NM_023036,NM_001172810 DNAI2,DNAI2 EXON Missense_V42M,Missense_V42M exm1351214 17 72278090 [A/G] NM_023036,NM_001172810 DNAI2,DNAI2 EXON Missense_N45S,Missense_N45S exm1351219 17 72281192 [T/G] NM_023036,NM_001172810 DNAI2,DNAI2 EXON Missense_R66L,Missense_R66L exm1351236 17 72285836 [T/C] NM_023036,NM_001172810 DNAI2,DNAI2 EXON Missense_P191S,Missense_P191S exm1351238 17 72285863 [A/C] NM_023036,NM_001172810 DNAI2,DNAI2 EXON Missense_I200L,Missense_I200L exm1351248 17 72295886 [A/G] NM_023036,NM_001172810 DNAI2,DNAI2 EXON Missense_V252M,Missense_V252M exm1351259 17 72295986 [T/C] NM_023036,NM_001172810 DNAI2,DNAI2 EXON Missense_T285M,Missense_T285M exm1351262 17 72297203 [T/C] NM_023036,NM_001172810 DNAI2,DNAI2 EXON Nonsense_R295X,Nonsense_R295X exm1351270 17 72297269 [A/G] NM_023036,NM_001172810 DNAI2,DNAI2 EXON Missense_A317T,Missense_A317T exm1351300 17 72305444 [A/G] NM_023036,NM_001172810 DNAI2,DNAI2 EXON Missense_V422I,Missense_V422I exm1351302 17 72305481 [A/T] NM_023036,NM_001172810 DNAI2,DNAI2 EXON Missense_I434N,Missense_I434N exm1351304 17 72305489 [T/C] NM_023036,NM_001172810 DNAI2,DNAI2 EXON Missense_F437L,Missense_F437L exm1351310 17 72306216 [A/G] NM_023036,NM_001172810 DNAI2,DNAI2 EXON Missense_G470S,Missense_G458S exm1351313 17 72306270 [T/C] NM_023036,NM_001172810 DNAI2,DNAI2 EXON Missense_L488F,Missense_L476F exm1351314 17 72306291 [A/G] NM_023036,NM_001172810 DNAI2,DNAI2 EXON Missense_V495I,Missense_V483I exm1351318 17 72308180 [T/G] NM_023036,NM_001172810 DNAI2,DNAI2 EXON Missense_E511D,Missense_E499D exm1351320 17 72308200 [A/G] NM_023036,NM_001172810 DNAI2,DNAI2 EXON Missense_R518Q,Missense_R506Q exm1351321 17 72308221 [T/C] NM_023036,NM_001172810 DNAI2,DNAI2 EXON Missense_A525V,Missense_A513V exm1899710 17 72308262 [A/G] NM_023036,NM_001172810 DNAI2,DNAI2 EXON Missense_V539I,Missense_V527I exm1351330 17 72308307 [A/G] NM_023036,NM_001172810 DNAI2,DNAI2 EXON Missense_D554N,Missense_D542N exm1351332 17 72308319 [A/G] NM_023036,NM_001172810 DNAI2,DNAI2 EXON Missense_A558T,Missense_A546T exm1351338 17 72308362 [T/C] NM_023036,NM_001172810 DNAI2,DNAI2 EXON Missense_P572L,Missense_P560L exm2268020 17 72311453 [A/G] exm1351363 17 72338037 [T/G] NM_153209 KIF19 EXON Missense_M48R exm1351364 17 72338038 [A/G] NM_153209 KIF19 EXON Missense_M48I exm1351367 17 72338064 [T/C] NM_153209 KIF19 EXON Missense_A57V exm1351375 17 72339198 [T/C] NM_153209 KIF19 EXON Nonsense_Q119X exm1351377 17 72339271 [T/A] NM_153209 KIF19 EXON Missense_E143V exm1351386 17 72340927 [T/C] NM_153209 KIF19 EXON Missense_R204W exm1351390 17 72340958 [A/G] NM_153209 KIF19 EXON Missense_N214S exm1351393 17 72340981 [A/G] NM_153209 KIF19 EXON Missense_A222T exm1351397 17 72341014 [T/C] NM_153209 KIF19 EXON Missense_R233W exm1351427 17 72345449 [T/C] NM_153209 KIF19 EXON Missense_R392W exm1351428 17 72345450 [A/G] NM_153209 KIF19 EXON Missense_R392Q exm1351431 17 72345464 [T/C] NM_153209 KIF19 EXON Missense_R397W exm1351439 17 72346635 [T/C] NM_153209 KIF19 EXON Missense_R437W exm1351441 17 72346662 [T/C] NM_153209 KIF19 EXON Missense_R446C exm1351448 17 72346868 [T/C] NM_153209 KIF19 EXON Missense_R471W exm1351455 17 72346991 [T/C] NM_153209 KIF19 EXON Missense_R512W exm1351458 17 72347018 [A/G] NM_153209 KIF19 EXON Missense_E521K exm1351460 17 72347033 [T/C] NM_153209 KIF19 EXON Missense_R526C exm1351478 17 72348459 [C/G] NM_153209 KIF19 EXON Missense_V654L exm1351490 17 72349634 [T/C] NM_153209 KIF19 EXON Missense_A741V exm1899790 17 72349637 [G/C] NM_153209 KIF19 EXON Missense_P742R exm1351504 17 72350384 [T/C] NM_153209 KIF19 EXON Nonsense_R798X exm1351506 17 72350402 [A/G] NM_153209 KIF19 EXON Missense_A804T exm1351507 17 72350412 [A/G] NM_153209 KIF19 EXON Missense_R807H exm1351515 17 72350559 [A/G] NM_153209 KIF19 EXON Missense_R856Q exm1351520 17 72350663 [T/C] NM_153209 KIF19 EXON Missense_R891W exm1351521 17 72350664 [A/G] NM_153209 KIF19 EXON Missense_R891Q exm1351522 17 72350672 [T/C] NM_153209 KIF19 EXON Nonsense_R894X exm1351527 17 72351024 [T/C] NM_153209 KIF19 EXON Missense_L937P exm2253191 17 72351406 [T/C] NM_153209 KIF19 EXON Synonymous_H984H exm1351558 17 72356119 [C/G] NM_001080466 BTBD17 EXON Missense_D117E exm1351578 17 72357907 [A/T] NM_001080466 BTBD17 EXON Missense_M18L exm-IND17-69875452 17 72363858 [D/I] NM_181790 GPR142 EXON exm1351593 17 72365620 [A/G] NM_181790 GPR142 EXON Missense_R86H exm1351597 17 72365698 [A/G] NM_181790 GPR142 EXON Missense_R112Q exm1351598 17 72366672 [A/G] NM_181790 GPR142 EXON Missense_R124Q exm1351602 17 72366690 [T/C] NM_181790 GPR142 EXON Missense_T130M exm1351603 17 72366695 [A/C] NM_181790 GPR142 EXON Missense_H132N exm1899832 17 72366743 [A/G] NM_181790 GPR142 EXON Missense_A148T exm1351607 17 72366761 [A/G] NM_181790 GPR142 EXON Missense_V154M exm1351609 17 72366770 [A/G] NM_181790 GPR142 EXON Missense_V157I exm1351610 17 72366771 [T/C] NM_181790 GPR142 EXON Missense_V157A exm1899833 17 72366782 [A/G] NM_181790 GPR142 EXON Missense_I161V exm1351613 17 72366818 [A/G] NM_181790 GPR142 EXON Missense_V173I exm1899837 17 72367882 [A/G] NM_181790 GPR142 EXON Missense_A178T exm1351621 17 72367973 [T/C] NM_181790 GPR142 EXON Missense_V208A exm1351636 17 72368080 [A/G] NM_181790 GPR142 EXON Missense_A244T exm1351640 17 72368116 [T/C] NM_181790 GPR142 EXON Missense_R256C exm1899841 17 72368117 [A/G] NM_181790 GPR142 EXON Missense_R256H exm1899843 17 72368149 [T/C] NM_181790 GPR142 EXON Missense_R267W exm1351649 17 72368180 [A/G] NM_181790 GPR142 EXON Missense_R277Q exm1351650 17 72368201 [C/G] NM_181790 GPR142 EXON Missense_S284T exm1351653 17 72368218 [A/G] NM_181790 GPR142 EXON Missense_G290S exm1351655 17 72368302 [T/G] NM_181790 GPR142 EXON Missense_C318G exm1351656 17 72368320 [A/G] NM_181790 GPR142 EXON Missense_I324V exm1351658 17 72368332 [A/G] NM_181790 GPR142 EXON Missense_V328M exm1351659 17 72368372 [A/G] NM_181790 GPR142 EXON Missense_R341Q exm1351661 17 72368384 [A/G] NM_181790 GPR142 EXON Missense_R345Q exm1351664 17 72368402 [A/G] NM_181790 GPR142 EXON Missense_R351Q exm1351667 17 72368467 [T/C] NM_181790 GPR142 EXON Missense_R373W exm1351671 17 72368523 [T/G] NM_181790 GPR142 EXON Missense_R391S exm1351674 17 72368570 [T/C] NM_181790 GPR142 EXON Missense_T407M exm1351679 17 72368627 [A/G] NM_181790 GPR142 EXON Missense_R426Q exm1351684 17 72368711 [T/C] NM_181790 GPR142 EXON Missense_P454L exm2268056 17 72398336 [A/G] exm1351693 17 72428206 [T/A] NM_022036 GPRC5C EXON Missense_Q10L exm1351696 17 72428218 [A/G] NM_022036 GPRC5C EXON Missense_R14Q exm1351715 17 72436018 [A/C] NM_022036,NM_018653 GPRC5C,GPRC5C EXON Missense_L80I,Missense_L47I exm1351722 17 72436066 [A/G] NM_022036,NM_018653 GPRC5C,GPRC5C EXON Missense_I96V,Missense_I63V exm1351723 17 72436078 [A/G] NM_022036,NM_018653 GPRC5C,GPRC5C EXON Missense_A100T,Missense_A67T exm1351725 17 72436120 [A/G] NM_022036,NM_018653 GPRC5C,GPRC5C EXON Missense_I114V,Missense_I81V exm1351727 17 72436141 [A/C] NM_022036,NM_018653 GPRC5C,GPRC5C EXON Missense_P121T,Missense_P88T exm1351743 17 72436313 [C/G] NM_022036,NM_018653 GPRC5C,GPRC5C EXON Missense_C178S,Missense_C145S exm2253193 17 72436338 [G/C] NM_022036,NM_018653 GPRC5C,GPRC5C EXON Synonymous_L186L,Synonymous_L153L exm1351747 17 72436370 [A/G] NM_022036,NM_018653 GPRC5C,GPRC5C EXON Missense_R197Q,Missense_R164Q exm1351754 17 72436507 [A/G] NM_022036,NM_018653 GPRC5C,GPRC5C EXON Missense_V243M,Missense_V210M exm2253194 17 72436560 [T/C] NM_022036,NM_018653 GPRC5C,GPRC5C EXON Synonymous_Y260Y,Synonymous_Y227Y exm1351758 17 72436603 [A/G] NM_022036,NM_018653 GPRC5C,GPRC5C EXON Missense_A275T,Missense_A242T exm1351761 17 72436642 [G/C] NM_022036,NM_018653 GPRC5C,GPRC5C EXON Missense_V288L,Missense_V255L exm2253195 17 72436647 [T/C] NM_022036,NM_018653 GPRC5C,GPRC5C EXON Synonymous_F289F,Synonymous_F256F exm1351762 17 72436647 [T/C] NM_022036,NM_018653 GPRC5C,GPRC5C EXON Synonymous_F289F,Synonymous_F256F exm1351791 17 72440007 [A/G] NM_022036,NM_018653 GPRC5C,GPRC5C EXON Missense_S413G,Missense_S380G exm1351794 17 72440049 [A/C] NM_022036,NM_018653 GPRC5C,GPRC5C EXON Missense_P427T,Missense_P394T exm1351808 17 72443111 [T/C] NM_022036,NM_018653 GPRC5C,GPRC5C EXON Missense_P469S,Missense_P436S exm1351812 17 72443156 [A/G] NM_022036,NM_018653 GPRC5C,GPRC5C EXON Missense_V484M,Missense_V451M exm1351821 17 72462879 [G/C] NM_001256841,NM_007261 CD300A,CD300A EXON Missense_P13A,Missense_P13A exm1351822 17 72462881 [A/C] NM_001256841,NM_007261 CD300A,CD300A EXON Synonymous_P13P,Synonymous_P13P exm1351841 17 72470004 [A/G] NM_001256841,NM_007261 CD300A,CD300A EXON Silent,Missense_V124M exm1899929 17 72470671 [T/C] NM_001256841,NM_007261 CD300A,CD300A EXON Missense_A14V,Missense_A127V exm1351846 17 72470704 [T/C] NM_001256841,NM_007261 CD300A,CD300A EXON Missense_A25V,Missense_A138V exm1351883 17 72519731 [T/C] NM_174892 CD300LB EXON Missense_G181S exm1351885 17 72519755 [T/C] NM_174892 CD300LB EXON Missense_N173D exm1351890 17 72519784 [A/G] NM_174892 CD300LB EXON Missense_A163V exm1351894 17 72521946 [A/C] NM_174892 CD300LB EXON Missense_C141F exm1351900 17 72522096 [T/C] NM_174892 CD300LB EXON Missense_R91H exm1351901 17 72522106 [A/G] NM_174892 CD300LB EXON Nonsense_R88X exm1351903 17 72522159 [A/G] NM_174892 CD300LB EXON Missense_T70M exm1351907 17 72527573 [T/C] NM_174892 CD300LB EXON Missense_R10G exm2227153 17 72527595 [C/G] NM_174892 CD300LB EXON Missense_C2W exm1351914 17 72539027 [T/C] NM_006678 CD300C EXON Missense_D167G exm1351915 17 72539040 [T/C] NM_006678 CD300C EXON Missense_V163M exm1351926 17 72540907 [A/G] NM_006678 CD300C EXON Nonsense_R81X exm1351930 17 72540958 [A/G] NM_006678 CD300C EXON Nonsense_R64X exm1351941 17 72541894 [A/G] NM_006678 CD300C EXON Missense_R10W exm1351957 17 72584662 [T/G] NM_001115152,NM_152460 CD300LD,C17orf77 EXON Missense_T123P,Silent exm1351959 17 72584704 [T/C] NM_001115152,NM_152460 CD300LD,C17orf77 EXON Missense_T109A,Silent exm1351963 17 72584730 [T/C] NM_001115152,NM_152460 CD300LD,C17orf77 EXON Missense_D100G,Silent exm1351964 17 72584755 [T/C] NM_001115152,NM_152460 CD300LD,C17orf77 EXON Missense_V92M,Silent exm1351966 17 72584764 [T/C] NM_001115152,NM_152460 CD300LD,C17orf77 EXON Missense_V89M,Silent exm2227160 17 72584850 [T/C] NM_001115152,NM_152460 CD300LD,C17orf77 EXON Missense_Y60C,Silent exm1900026 17 72584887 [A/T] NM_001115152,NM_152460 CD300LD,C17orf77 EXON Missense_Y48N,Silent exm1351977 17 72588217 [T/C] NM_001115152,NM_152460 CD300LD,C17orf77 EXON Silent,Missense_T11I exm1351982 17 72588252 [C/G] NM_001115152,NM_152460 CD300LD,C17orf77 EXON Silent,Missense_P23A exm1351985 17 72588306 [A/G] NM_001115152,NM_152460 CD300LD,C17orf77 EXON Synonymous_L12L,Missense_E41K exm1351987 17 72588326 [A/C] NM_001115152,NM_152460 CD300LD,C17orf77 EXON Missense_S6A,Missense_R47S exm1351989 17 72588352 [T/C] NM_001115152,NM_152460 CD300LD,C17orf77 EXON Silent,Missense_S56F exm1351991 17 72588388 [A/C] NM_152460 C17orf77 EXON Missense_P68H exm1351994 17 72588438 [T/G] NM_152460 C17orf77 EXON Nonsense_E85X exm1352001 17 72588601 [A/G] NM_152460 C17orf77 EXON Missense_G139E exm1352003 17 72588624 [A/G] NM_152460 C17orf77 EXON Missense_V147M exm1352012 17 72588735 [A/G] NM_152460 C17orf77 EXON Missense_R184G exm1352013 17 72588778 [T/C] NM_152460 C17orf77 EXON Missense_T198I exm1352014 17 72588801 [T/C] NM_152460 C17orf77 EXON Missense_P206S exm1352015 17 72588806 [A/C] NM_152460 C17orf77 EXON Nonsense_C207X exm1352022 17 72588900 [T/C] NM_152460 C17orf77 EXON Missense_L239F exm1352035 17 72610089 [T/C] NM_181449 CD300E EXON Missense_G158R exm1352037 17 72610104 [A/G] NM_181449 CD300E EXON Nonsense_R153X exm1352039 17 72610143 [A/G] NM_181449 CD300E EXON Missense_P140S exm1352040 17 72610164 [T/C] NM_181449 CD300E EXON Missense_T133A exm1352045 17 72613389 [T/C] NM_181449 CD300E EXON Missense_A86T exm1352059 17 72613589 [T/G] NM_181449 CD300E EXON Missense_K19T exm1352064 17 72619751 [A/G] NM_181449 CD300E EXON Missense_L4F exm1352075 17 72691263 [T/G] NM_175738,NM_139018 RAB37,CD300LF EXON Silent,Missense_T282K exm1352076 17 72691285 [T/C] NM_175738,NM_139018 RAB37,CD300LF EXON Silent,Missense_G275S exm1352078 17 72691347 [A/G] NM_175738,NM_139018 RAB37,CD300LF EXON Silent,Missense_L254S exm1352081 17 72691865 [A/G] NM_175738,NM_139018 RAB37,CD300LF EXON Silent,Missense_M239T exm1352083 17 72691928 [T/C] NM_175738,NM_139018 RAB37,CD300LF EXON Silent,Missense_Q218R exm1352085 17 72691931 [A/G] NM_175738,NM_139018 RAB37,CD300LF EXON Silent,Missense_P217L exm1352088 17 72691941 [T/C] NM_175738,NM_139018 RAB37,CD300LF EXON Silent,Missense_G214R exm1352090 17 72691961 [T/A] NM_175738,NM_139018 RAB37,CD300LF EXON Silent,Missense_D207V exm1352103 17 72694574 [A/T] NM_175738,NM_139018 RAB37,CD300LF EXON Silent,Missense_I165L exm-rs10512597 17 72699833 [T/C] NM_175738,NM_139018 RAB37,CD300LF Silent,Silent exm1352135 17 72700919 [A/G] NM_175738,NM_139018 RAB37,CD300LF EXON Silent,Missense_T27I exm1352136 17 72700943 [A/G] NM_175738,NM_139018 RAB37,CD300LF EXON Silent,Missense_V19A exm1352150 17 72725404 [T/G] NM_175738 RAB37 EXON Missense_V28L exm1352152 17 72725429 [T/C] NM_175738 RAB37 EXON Missense_T36M exm1352156 17 72725478 [C/G] NM_175738 RAB37 EXON Missense_F52L exm1352172 17 72736934 [A/G] NM_175738,NM_001163989,NM_001006638,NM_001163990 RAB37,RAB37,RAB37,RAB37 EXON Silent,Missense_G46S,Missense_G41S,Silent exm1352183 17 72739283 [A/G] NM_175738,NM_001163989,NM_001006638,NM_001163990 RAB37,RAB37,RAB37,RAB37 EXON Missense_G81R,Missense_G93R,Missense_G88R,Missense_G51R exm1352186 17 72739304 [A/G] NM_175738,NM_001163989,NM_001006638,NM_001163990 RAB37,RAB37,RAB37,RAB37 EXON Missense_V88I,Missense_V100I,Missense_V95I,Missense_V58I exm1352202 17 72741027 [A/G] NM_175738,NM_001163989,NM_001006638,NM_001163990 RAB37,RAB37,RAB37,RAB37 EXON Missense_E143K,Missense_E155K,Missense_E150K,Missense_E113K exm1352208 17 72741459 [A/G] NM_175738,NM_001163989,NM_001006638,NM_001163990 RAB37,RAB37,RAB37,RAB37 EXON Missense_R187Q,Missense_R199Q,Missense_R194Q,Missense_R157Q exm1352209 17 72741464 [A/G] NM_175738,NM_001163989,NM_001006638,NM_001163990 RAB37,RAB37,RAB37,RAB37 EXON Missense_G189R,Missense_G201R,Missense_G196R,Missense_G159R exm2227164 17 72741494 [A/G] NM_175738,NM_001163989,NM_001006638,NM_001163990 RAB37,RAB37,RAB37,RAB37 EXON Missense_I199V,Missense_I211V,Missense_I206V,Missense_I169V exm1352216 17 72745037 [A/G] NM_004252 SLC9A3R1 EXON Missense_E18K exm1352226 17 72745164 [T/G] NM_004252 SLC9A3R1 EXON Missense_V60G exm1352228 17 72745188 [A/C] NM_004252 SLC9A3R1 EXON Missense_E68A exm1352230 17 72745227 [T/C] NM_004252 SLC9A3R1 EXON Missense_A81V exm1352239 17 72758167 [A/G] NM_004252 SLC9A3R1 EXON Missense_R153Q exm1352243 17 72758227 [T/C] NM_004252 SLC9A3R1 EXON Missense_S173F exm1352244 17 72758247 [T/C] NM_004252 SLC9A3R1 EXON Missense_R180W exm1352248 17 72759559 [C/G] NM_004252 SLC9A3R1 EXON Missense_I219M exm1352251 17 72759575 [A/G] NM_004252 SLC9A3R1 EXON Missense_E225K exm1352260 17 72764377 [T/C] NM_004252 SLC9A3R1 Silent exm1352261 17 72764620 [A/T] NM_004252 SLC9A3R1 EXON Missense_D301V exm1352265 17 72764749 [T/C] NM_004252 SLC9A3R1 EXON Missense_P344L exm1352282 17 72768191 [T/C] NM_015654 NAT9 EXON Missense_V133M exm1352288 17 72769124 [A/G] NM_015654 NAT9 EXON Missense_T82I exm1352295 17 72769739 [A/G] NM_015654 NAT9 EXON Missense_C56R exm1352296 17 72769771 [A/G] NM_015654 NAT9 EXON Missense_P45L exm-rs10775365 17 72780491 [A/G] NM_017728 TMEM104 Silent exm1352315 17 72781693 [A/G] NM_017728 TMEM104 EXON Missense_A40T exm1352318 17 72781714 [A/G] NM_017728 TMEM104 EXON Missense_V47I exm1352321 17 72784932 [A/G] NM_017728 TMEM104 EXON Missense_V58M exm1352332 17 72786391 [A/G] NM_017728 TMEM104 EXON Missense_R101Q exm1352337 17 72787100 [T/C] NM_017728 TMEM104 EXON Missense_R118C exm1352348 17 72791211 [A/G] NM_017728 TMEM104 EXON Missense_Y163C exm1352356 17 72791662 [T/G] NM_017728 TMEM104 Silent exm1352358 17 72791688 [A/G] NM_017728 TMEM104 EXON Missense_G185S exm1352364 17 72791724 [T/C] NM_017728 TMEM104 EXON Missense_R197W exm1352365 17 72791725 [A/G] NM_017728 TMEM104 EXON Missense_R197Q exm1352368 17 72791739 [G/C] NM_017728 TMEM104 EXON Missense_L202V exm1352369 17 72791743 [A/G] NM_017728 TMEM104 EXON Missense_R203H exm1352370 17 72791746 [A/G] NM_017728 TMEM104 EXON Missense_R204Q exm1352372 17 72791754 [A/G] NM_017728 TMEM104 EXON Missense_A207T exm1352379 17 72815981 [T/C] NM_017728 TMEM104 EXON Synonymous_I243I exm1352384 17 72832147 [T/C] NM_017728 TMEM104 EXON Missense_S271L exm1352386 17 72832176 [A/G] NM_017728 TMEM104 EXON Missense_V281I exm1352392 17 72832362 [A/G] NM_017728 TMEM104 EXON Missense_A343T exm1352394 17 72832366 [A/G] NM_017728 TMEM104 EXON Missense_R344H exm1352396 17 72832374 [A/G] NM_017728 TMEM104 EXON Missense_V347I exm1900190 17 72832389 [A/G] NM_017728 TMEM104 EXON Missense_A352T exm1352398 17 72832404 [G/C] NM_017728 TMEM104 EXON Missense_L357V exm1352410 17 72832555 [T/C] NM_017728 TMEM104 EXON Missense_P407L exm1352418 17 72832641 [A/G] NM_017728 TMEM104 EXON Missense_V436I exm2227168 17 72832650 [A/G] NM_017728 TMEM104 EXON Missense_A439T exm1352420 17 72832690 [T/C] NM_017728 TMEM104 EXON Missense_A452V exm1352435 17 72838645 [T/C] NM_000835 GRIN2C EXON Missense_A1211T exm1352436 17 72838649 [A/C] NM_000835 GRIN2C EXON Missense_R1209S exm1352442 17 72838689 [A/G] NM_000835 GRIN2C EXON Missense_T1196I exm1900199 17 72838813 [T/C] NM_000835 GRIN2C EXON Missense_A1155T exm1352479 17 72839647 [A/G] NM_000835 GRIN2C EXON Missense_P877S exm1352495 17 72842206 [A/G] NM_000835 GRIN2C EXON Synonymous_D783D exm1352500 17 72842228 [A/G] NM_000835 GRIN2C EXON Missense_A776V exm1352516 17 72843479 [T/C] NM_000835 GRIN2C EXON Missense_I657V exm2253199 17 72846043 [A/G] NM_000835 GRIN2C EXON Synonymous_I507I exm1352541 17 72846368 [T/C] NM_000835 GRIN2C EXON Missense_V490I exm1352542 17 72846371 [T/C] NM_000835 GRIN2C EXON Missense_G489S exm1352547 17 72846458 [T/C] NM_000835 GRIN2C EXON Missense_D460N exm1352550 17 72846500 [T/C] NM_000835 GRIN2C EXON Missense_V446M exm1352554 17 72846720 [A/G] NM_000835 GRIN2C EXON Missense_R434C exm1352556 17 72846746 [T/C] NM_000835 GRIN2C EXON Missense_G425D exm1352561 17 72846818 [T/C] NM_000835 GRIN2C EXON Missense_R401Q exm1352564 17 72846864 [T/C] NM_000835 GRIN2C EXON Missense_V386M exm1352571 17 72847792 [A/G] NM_000835 GRIN2C EXON Missense_S346F exm1352590 17 72848653 [A/G] NM_000835 GRIN2C EXON Missense_A166V exm1352597 17 72850884 [A/C] NM_000835 GRIN2C EXON Missense_H116Q exm1352604 17 72851039 [A/G] NM_000835 GRIN2C EXON Missense_L65F exm1352605 17 72851041 [A/G] NM_000835 GRIN2C EXON Missense_P64L exm1352609 17 72851086 [T/C] NM_000835 GRIN2C EXON Missense_R49H exm1352611 17 72851092 [T/C] NM_000835 GRIN2C EXON Missense_R47H exm1352621 17 72858956 [A/G] NM_004110,NR_047576,NM_001258013,NM_001258012,NM_001258016,NM_001258015,NM_001258014,NM_024417 FDXR,FDXR,FDXR,FDXR,FDXR,FDXR,FDXR,FDXR EXON Missense_R493C,Silent,Missense_R518C,Missense_R530C,Missense_R435C,Missense_R447C,Missense_R479C,Missense_R487C exm1352622 17 72858992 [A/G] NM_004110,NR_047576,NM_001258013,NM_001258012,NM_001258016,NM_001258015,NM_001258014,NM_024417 FDXR,FDXR,FDXR,FDXR,FDXR,FDXR,FDXR,FDXR EXON Missense_P481S,Silent,Missense_P506S,Missense_P518S,Missense_P423S,Missense_P435S,Missense_P467S,Missense_P475S exm1352624 17 72859001 [T/C] NM_004110,NR_047576,NM_001258013,NM_001258012,NM_001258016,NM_001258015,NM_001258014,NM_024417 FDXR,FDXR,FDXR,FDXR,FDXR,FDXR,FDXR,FDXR EXON Missense_T478A,Silent,Missense_T503A,Missense_T515A,Missense_T420A,Missense_T432A,Missense_T464A,Missense_T472A exm1352639 17 72859341 [T/C] NM_004110,NR_047576,NM_001258013,NM_001258012,NM_001258016,NM_001258015,NM_001258014,NM_024417 FDXR,FDXR,FDXR,FDXR,FDXR,FDXR,FDXR,FDXR EXON Missense_R407K,Silent,Missense_R432K,Missense_R444K,Missense_R349K,Missense_R361K,Missense_R393K,Missense_R401K exm1352642 17 72860042 [T/C] NM_004110,NR_047576,NM_001258013,NM_001258012,NM_001258016,NM_001258015,NM_001258014,NM_024417 FDXR,FDXR,FDXR,FDXR,FDXR,FDXR,FDXR,FDXR EXON Missense_E390K,Silent,Missense_E415K,Missense_E427K,Missense_E332K,Missense_E344K,Missense_E376K,Missense_E384K exm1352646 17 72860065 [T/C] NM_004110,NR_047576,NM_001258013,NM_001258012,NM_001258016,NM_001258015,NM_001258014,NM_024417 FDXR,FDXR,FDXR,FDXR,FDXR,FDXR,FDXR,FDXR EXON Missense_K382R,Silent,Missense_K407R,Missense_K419R,Missense_K324R,Missense_K336R,Missense_K368R,Missense_K376R exm1352649 17 72860098 [T/C] NM_004110,NR_047576,NM_001258013,NM_001258012,NM_001258016,NM_001258015,NM_001258014,NM_024417 FDXR,FDXR,FDXR,FDXR,FDXR,FDXR,FDXR,FDXR EXON Missense_R371H,Silent,Missense_R396H,Missense_R408H,Missense_R313H,Missense_R325H,Missense_R357H,Missense_R365H exm1352650 17 72860099 [A/G] NM_004110,NR_047576,NM_001258013,NM_001258012,NM_001258016,NM_001258015,NM_001258014,NM_024417 FDXR,FDXR,FDXR,FDXR,FDXR,FDXR,FDXR,FDXR EXON Missense_R371C,Silent,Missense_R396C,Missense_R408C,Missense_R313C,Missense_R325C,Missense_R357C,Missense_R365C exm1352664 17 72860311 [A/G] NM_004110,NR_047576,NM_001258013,NM_001258012,NM_001258016,NM_001258015,NM_001258014,NM_024417 FDXR,FDXR,FDXR,FDXR,FDXR,FDXR,FDXR,FDXR EXON Missense_R327W,Silent,Missense_R352W,Missense_R364W,Missense_R269W,Missense_R281W,Missense_R313W,Missense_R321W exm1352665 17 72860371 [A/G] NM_004110,NR_047576,NM_001258013,NM_001258012,NM_001258016,NM_001258015,NM_001258014,NM_024417 FDXR,FDXR,FDXR,FDXR,FDXR,FDXR,FDXR,FDXR EXON Missense_R307C,Silent,Missense_R332C,Missense_R344C,Missense_R249C,Missense_R261C,Missense_R293C,Missense_R301C exm1352668 17 72860400 [A/G] NM_004110,NR_047576,NM_001258013,NM_001258012,NM_001258016,NM_001258015,NM_001258014,NM_024417 FDXR,FDXR,FDXR,FDXR,FDXR,FDXR,FDXR,FDXR EXON Missense_A297V,Silent,Missense_A322V,Missense_A334V,Missense_A239V,Missense_A251V,Missense_A283V,Missense_A291V exm1352677 17 72860653 [A/G] NM_004110,NR_047576,NM_001258013,NM_001258012,NM_001258016,NM_001258015,NM_001258014,NM_024417 FDXR,FDXR,FDXR,FDXR,FDXR,FDXR,FDXR,FDXR EXON Missense_R257W,Silent,Missense_R282W,Missense_R294W,Missense_R199W,Missense_R211W,Missense_R243W,Missense_R251W exm1352682 17 72860674 [A/T] NM_004110,NR_047576,NM_001258013,NM_001258012,NM_001258016,NM_001258015,NM_001258014,NM_024417 FDXR,FDXR,FDXR,FDXR,FDXR,FDXR,FDXR,FDXR EXON Missense_M250L,Silent,Missense_M275L,Missense_M287L,Missense_M192L,Missense_M204L,Missense_M236L,Missense_M244L exm1352686 17 72860978 [A/G] NM_004110,NR_047576,NM_001258013,NM_001258012,NM_001258016,NM_001258015,NM_001258014,NM_024417 FDXR,FDXR,FDXR,FDXR,FDXR,FDXR,FDXR,FDXR EXON Missense_R235C,Silent,Missense_R260C,Missense_R272C,Missense_R177C,Missense_R189C,Missense_R221C,Missense_R229C exm1352688 17 72861057 [G/C] NM_004110,NR_047576,NM_001258013,NM_001258012,NM_001258016,NM_001258015,NM_001258014,NM_024417 FDXR,FDXR,FDXR,FDXR,FDXR,FDXR,FDXR,FDXR EXON Missense_C208W,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm1352706 17 72862330 [T/G] NM_004110,NR_047576,NM_001258013,NM_001258012,NM_001258016,NM_001258015,NM_001258014,NM_024417 FDXR,FDXR,FDXR,FDXR,FDXR,FDXR,FDXR,FDXR EXON Missense_P144T,Silent,Missense_P175T,Missense_P187T,Missense_P92T,Missense_P104T,Missense_P136T,Missense_P144T exm1352733 17 72869050 [A/C] NM_004110,NR_047576,NM_001258013,NM_001258012,NM_001258015,NM_001258014,NM_024417 FDXR,FDXR,FDXR,FDXR,FDXR,FDXR,FDXR EXON Missense_R7L,Silent,Missense_R7L,Missense_R7L,Missense_R7L,Missense_R7L,Missense_R7L exm1352739 17 72874476 [T/C] NM_178128 FADS6 EXON Missense_E346G exm1352740 17 72874485 [C/G] NM_178128 FADS6 EXON Missense_P343R exm1352749 17 72875656 [T/A] NM_178128 FADS6 EXON Missense_S262C exm1352751 17 72875670 [A/C] NM_178128 FADS6 EXON Missense_R257L exm1352761 17 72877230 [T/C] NM_178128 FADS6 EXON Missense_A232T exm1352762 17 72877250 [T/A] NM_178128 FADS6 EXON Missense_F225Y exm1352768 17 72877346 [A/G] NM_178128 FADS6 EXON Missense_T193M exm1352769 17 72877362 [T/C] NM_178128 FADS6 EXON Missense_G188R exm1352791 17 72888765 [A/G] NM_178128 FADS6 EXON Missense_T81I exm1352802 17 72889648 [T/C] NM_178128 FADS6 EXON Missense_A16T exm1352821 17 72915673 [C/G] NM_173477 USH1G EXON Missense_L420V exm1352833 17 72915948 [A/C] NM_173477 USH1G EXON Missense_G328V exm1352837 17 72916094 [G/C] NM_173477 USH1G EXON Missense_D279E exm1352843 17 72916216 [T/G] NM_173477 USH1G EXON Missense_K239Q exm1352849 17 72916296 [C/G] NM_173477 USH1G EXON Missense_G212A exm1352854 17 72916365 [T/C] NM_173477 USH1G EXON Missense_R189Q exm1352859 17 72916440 [C/G] NM_173477 USH1G EXON Missense_R164P exm1352867 17 72916507 [T/C] NM_173477 USH1G EXON Missense_E142K exm1352870 17 72916543 [T/C] NM_173477 USH1G EXON Missense_K130E exm1352873 17 72916621 [T/C] NM_173477 USH1G EXON Missense_M104V exm1352881 17 72919033 [T/C] NM_173477 USH1G EXON Missense_E46K exm1352882 17 72919086 [A/G] NM_173477 USH1G EXON Missense_P28L exm1352897 17 72920927 [T/C] NM_178160 OTOP2 EXON Missense_T67I exm1352898 17 72920930 [T/C] NM_178160 OTOP2 EXON Missense_A68V exm1352921 17 72923779 [T/C] NM_178160 OTOP2 EXON Missense_L177F exm1352929 17 72923866 [A/G] NM_178160 OTOP2 EXON Missense_A206T exm1352944 17 72926661 [A/G] NM_178160 OTOP2 EXON Missense_E311K exm1352946 17 72926682 [A/G] NM_178160 OTOP2 EXON Missense_G318R exm1352952 17 72926794 [A/G] NM_178160 OTOP2 EXON Missense_R355Q exm1352955 17 72926863 [A/G] NM_178160 OTOP2 EXON Missense_G378D exm1352965 17 72927027 [A/G] NM_178160 OTOP2 EXON Missense_E433K exm1352972 17 72927123 [T/G] NM_178160 OTOP2 EXON Missense_G465W exm1900378 17 72927168 [A/G] NM_178160 OTOP2 EXON Missense_I480V exm1352980 17 72929516 [C/G] NM_178160 OTOP2 EXON Missense_T522R exm1352988 17 72929560 [A/G] NM_178160 OTOP2 EXON Missense_V537I exm1352990 17 72929594 [A/G] NM_178160 OTOP2 EXON Missense_R548H exm1352992 17 72929611 [A/G] NM_178160 OTOP2 EXON Missense_S554G exm1352995 17 72931912 [T/C] NM_001272005,NM_178233 OTOP3,OTOP3 EXON Silent,Nonsense_R6X exm1353004 17 72937605 [A/G] NM_001272005,NM_178233 OTOP3,OTOP3 EXON Missense_R46Q,Missense_R64Q exm1353008 17 72937706 [A/G] NM_001272005,NM_178233 OTOP3,OTOP3 EXON Missense_V80M,Missense_V98M exm1353010 17 72937718 [T/G] NM_001272005,NM_178233 OTOP3,OTOP3 EXON Missense_G84C,Missense_G102C exm1353016 17 72937847 [T/C] NM_001272005,NM_178233 OTOP3,OTOP3 EXON Missense_R127C,Missense_R145C exm1353017 17 72937851 [A/G] NM_001272005,NM_178233 OTOP3,OTOP3 EXON Missense_R128Q,Missense_R146Q exm1353022 17 72938013 [A/G] NM_001272005,NM_178233 OTOP3,OTOP3 EXON Missense_G152S,Missense_G170S exm1353023 17 72938023 [A/C] NM_001272005,NM_178233 OTOP3,OTOP3 EXON Missense_T155N,Missense_T173N exm1353024 17 72938044 [A/G] NM_001272005,NM_178233 OTOP3,OTOP3 EXON Missense_R162Q,Missense_R180Q exm1900404 17 72938091 [T/C] NM_001272005,NM_178233 OTOP3,OTOP3 EXON Missense_L178F,Missense_L196F exm1353027 17 72938100 [T/C] NM_001272005,NM_178233 OTOP3,OTOP3 EXON Missense_S181P,Missense_S199P exm1353031 17 72939409 [A/G] NM_001272005,NM_178233 OTOP3,OTOP3 EXON Missense_D201G,Missense_D219G exm2227176 17 72939418 [A/G] NM_001272005,NM_178233 OTOP3,OTOP3 EXON Missense_R204Q,Missense_R222Q exm2272557 17 72939446 [T/C] NM_001272005,NM_178233 OTOP3,OTOP3 Silent,Silent exm1353041 17 72939759 [A/C] NM_001272005,NM_178233 OTOP3,OTOP3 EXON Missense_N231H,Missense_N249H exm1353044 17 72939783 [A/G] NM_001272005,NM_178233 OTOP3,OTOP3 EXON Missense_E239K,Missense_E257K exm1353047 17 72939805 [T/C] NM_001272005,NM_178233 OTOP3,OTOP3 EXON Missense_M246T,Missense_M264T exm1353052 17 72942794 [A/G] NM_001272005,NM_178233 OTOP3,OTOP3 EXON Missense_A264T,Missense_A282T exm1353055 17 72942810 [A/G] NM_001272005,NM_178233 OTOP3,OTOP3 EXON Missense_R269Q,Missense_R287Q exm1353060 17 72942899 [T/C] NM_001272005,NM_178233 OTOP3,OTOP3 EXON Missense_R299C,Missense_R317C exm1353061 17 72942905 [A/G] NM_001272005,NM_178233 OTOP3,OTOP3 EXON Missense_V301M,Missense_V319M exm1900427 17 72943119 [A/G] NM_001272005,NM_178233 OTOP3,OTOP3 EXON Missense_C372Y,Missense_C390Y exm1353082 17 72943184 [T/C] NM_001272005,NM_178233 OTOP3,OTOP3 EXON Missense_R394C,Missense_R412C exm1353090 17 72943253 [A/G] NM_001272005,NM_178233 OTOP3,OTOP3 EXON Missense_V417M,Missense_V435M exm1900433 17 72943278 [A/G] NM_001272005,NM_178233 OTOP3,OTOP3 EXON Missense_H425R,Missense_H443R exm1353092 17 72943292 [T/C] NM_001272005,NM_178233 OTOP3,OTOP3 EXON Missense_R430C,Missense_R448C exm1900434 17 72943374 [A/G] NM_001272005,NM_178233 OTOP3,OTOP3 EXON Missense_R457H,Missense_R475H exm1353097 17 72943379 [G/C] NM_001272005,NM_178233 OTOP3,OTOP3 EXON Missense_L459V,Missense_L477V exm1353098 17 72943418 [A/G] NM_001272005,NM_178233 OTOP3,OTOP3 EXON Missense_E472K,Missense_E490K exm1353099 17 72943434 [A/G] NM_001272005,NM_178233 OTOP3,OTOP3 EXON Missense_R477H,Missense_R495H exm1353104 17 72943521 [A/G] NM_001272005,NM_178233 OTOP3,OTOP3 EXON Missense_R506Q,Missense_R524Q exm1353105 17 72943541 [T/G] NM_001272005,NM_178233 OTOP3,OTOP3 EXON Missense_S513A,Missense_S531A exm1353107 17 72943553 [A/G] NM_001272005,NM_178233 OTOP3,OTOP3 EXON Missense_I517V,Missense_I535V exm1900436 17 72943556 [T/C] NM_001272005,NM_178233 OTOP3,OTOP3 EXON Missense_L518F,Missense_L536F exm1353110 17 72945345 [A/G] NM_001272005,NM_178233 OTOP3,OTOP3 EXON Nonsense_W524X,Nonsense_W542X exm1353130 17 72947672 [T/C] NM_030630 HID1 EXON Missense_R787Q exm1353132 17 72947697 [T/C] NM_030630 HID1 EXON Missense_D779N exm1353191 17 72954552 [A/G] NM_030630 HID1 EXON Missense_I421T exm1353199 17 72955017 [T/C] NM_030630 HID1 EXON Missense_D380N exm1353204 17 72956031 [A/G] NM_030630 HID1 EXON Missense_P318L exm1353206 17 72956156 [T/C] NM_030630 HID1 EXON Missense_G306S exm1353208 17 72956189 [T/C] NM_030630 HID1 EXON Missense_D295N exm1353223 17 72958339 [T/C] NM_030630 HID1 EXON Missense_D201N exm1353227 17 72958366 [A/G] NM_030630 HID1 EXON Missense_H192Y exm1353231 17 72959074 [A/G] NM_030630 HID1 EXON Missense_R164W exm2253201 17 72959138 [A/G] NM_030630 HID1 EXON Synonymous_A142A exm1353236 17 72959176 [C/G] NM_030630 HID1 EXON Missense_Q130E exm1353237 17 72959177 [A/C] NM_030630 HID1 Silent exm1353249 17 72960578 [T/C] NM_030630 HID1 EXON Synonymous_K72K exm2227179 17 72960670 [A/C] NM_030630 HID1 EXON Missense_S42A exm1353251 17 72960697 [T/C] NM_030630 HID1 EXON Missense_D33N exm1353298 17 72999671 [A/C] NM_014603 CDR2L EXON Missense_D300E exm2227181 17 72999712 [A/G] NM_014603 CDR2L EXON Missense_R314H exm1353309 17 73000034 [C/G] NM_014603 CDR2L EXON Missense_H421Q exm1353311 17 73000053 [T/C] NM_014603 CDR2L EXON Missense_R428W exm1353316 17 73000126 [A/C] NM_014603 CDR2L EXON Missense_A452D exm1353326 17 73015802 [C/G] NM_001545 ICT1 EXON Missense_L77F exm1353327 17 73015827 [A/G] NM_001545 ICT1 EXON Missense_G86S exm1353332 17 73016489 [T/C] NM_001545 ICT1 EXON Missense_T122M exm1353337 17 73016637 [A/C] NM_001545 ICT1 EXON Missense_R141S exm1353338 17 73016638 [A/G] NM_001545 ICT1 EXON Missense_R141H exm1353341 17 73016680 [A/G] NM_001545 ICT1 EXON Missense_R155Q exm1353342 17 73016710 [A/C] NM_001545 ICT1 EXON Missense_P165Q exm1353360 17 73036221 [T/C] NM_001003785,NM_006356 ATP5H,ATP5H EXON Silent,Missense_Y86C exm1353364 17 73038279 [A/C] NM_001003785,NM_006356 ATP5H,ATP5H EXON Missense_K72N,Missense_K72N exm1353367 17 73038319 [T/G] NM_001003785,NM_006356 ATP5H,ATP5H EXON Missense_A59D,Missense_A59D exm1353370 17 73038371 [A/G] NM_001003785,NM_006356 ATP5H,ATP5H EXON Synonymous_L42L,Synonymous_L42L exm1353382 17 73049110 [T/C] NM_015353 KCTD2 EXON Synonymous_G150G exm1353395 17 73058249 [A/G] NM_015353 KCTD2 EXON Missense_N224S exm-rs11077773 17 73060073 [T/C] NM_015353 KCTD2 EXON Silent exm1353418 17 73089882 [A/G] NM_001271765,NM_004695 SLC16A5,SLC16A5 EXON Missense_E51K,Missense_E51K exm1353419 17 73089910 [T/C] NM_001271765,NM_004695 SLC16A5,SLC16A5 EXON Missense_T60M,Missense_T60M exm1353425 17 73094160 [A/G] NM_001271765,NM_004695 SLC16A5,SLC16A5 EXON Missense_R76H,Missense_R76H exm1353435 17 73094234 [T/C] NM_001271765,NM_004695 SLC16A5,SLC16A5 EXON Missense_H101Y,Missense_H101Y exm1353441 17 73096168 [A/G] NM_001271765,NM_004695 SLC16A5,SLC16A5 EXON Missense_R137Q,Missense_R137Q exm1353442 17 73096182 [A/G] NM_001271765,NM_004695 SLC16A5,SLC16A5 EXON Missense_A142T,Missense_A142T exm1353453 17 73096372 [T/C] NM_001271765,NM_004695 SLC16A5,SLC16A5 EXON Missense_P205L,Missense_P205L exm1900583 17 73096476 [A/G] NM_001271765,NM_004695 SLC16A5,SLC16A5 EXON Missense_V240M,Missense_V240M exm1353460 17 73096522 [T/C] NM_001271765,NM_004695 SLC16A5,SLC16A5 EXON Missense_P255L,Missense_P255L exm1353466 17 73096651 [T/C] NM_001271765,NM_004695 SLC16A5,SLC16A5 EXON Missense_P298L,Missense_P298L exm1900585 17 73096776 [A/G] NM_001271765,NM_004695 SLC16A5,SLC16A5 EXON Missense_V340M,Missense_V340M exm1353472 17 73096786 [C/G] NM_001271765,NM_004695 SLC16A5,SLC16A5 EXON Missense_S343T,Missense_S343T exm1353478 17 73096860 [T/C] NM_001271765,NM_004695 SLC16A5,SLC16A5 EXON Missense_L368F,Missense_L368F exm1353482 17 73100146 [T/C] NM_001271765,NM_004695 SLC16A5,SLC16A5 EXON Missense_M412T,Missense_M412T exm1353484 17 73100199 [A/G] NM_001271765,NM_004695 SLC16A5,SLC16A5 EXON Missense_A430T,Missense_A430T exm1353492 17 73101998 [A/G] NM_001271765,NM_004695 SLC16A5,SLC16A5 EXON Missense_R463H,Missense_R463H exm1353499 17 73102081 [T/G] NM_001271765,NM_004695 SLC16A5,SLC16A5 EXON Missense_V491L,Missense_V491L exm1353508 17 73106604 [A/C] NM_024585 ARMC7 EXON Missense_D46E exm1353513 17 73124773 [A/C] NM_024585 ARMC7 EXON Synonymous_G79G exm1353521 17 73124925 [A/G] NM_024585 ARMC7 EXON Missense_R130H exm1353522 17 73124946 [T/C] NM_024585 ARMC7 EXON Missense_T137I exm1353527 17 73124996 [A/G] NM_024585 ARMC7 EXON Missense_A154T exm1353533 17 73125047 [T/C] NM_024585 ARMC7 EXON Missense_R171C exm1353534 17 73125048 [A/G] NM_024585 ARMC7 EXON Missense_R171H exm1900611 17 73125066 [A/G] NM_024585 ARMC7 EXON Missense_R177H exm1353548 17 73126662 [C/G] NR_045513,NM_001252377,NM_014595 NT5C,NT5C,NT5C EXON Silent,Missense_T136R,Missense_T176R exm1353550 17 73126866 [T/C] NR_045513,NM_001252377,NM_014595 NT5C,NT5C,NT5C EXON Silent,Silent,Missense_D145N exm1353552 17 73126913 [T/A] NR_045513,NM_001252377,NM_014595 NT5C,NT5C,NT5C EXON Silent,Silent,Missense_I129N exm1353555 17 73126932 [A/G] NR_045513,NM_001252377,NM_014595 NT5C,NT5C,NT5C EXON Silent,Silent,Nonsense_Q123X exm1353556 17 73126934 [A/G] NR_045513,NM_001252377,NM_014595 NT5C,NT5C,NT5C EXON Silent,Silent,Missense_P122L exm1353565 17 73127192 [A/G] NR_045513,NM_001252377,NM_014595 NT5C,NT5C,NT5C EXON Silent,Missense_V95A,Missense_V95A exm1353573 17 73127293 [C/G] NR_045513,NM_001252377,NM_014595 NT5C,NT5C,NT5C EXON Silent,Missense_E86D,Missense_E86D exm1353575 17 73127348 [A/G] NR_045513,NM_001252377,NM_014595 NT5C,NT5C,NT5C EXON Silent,Missense_P68L,Missense_P68L exm1353587 17 73132140 [T/C] NM_001002032,NM_016185,NM_001002033 HN1,HN1,HN1 EXON Missense_H168R,Silent,Silent exm1353593 17 73132255 [A/G] NM_001002032,NM_016185,NM_001002033 HN1,HN1,HN1 EXON Missense_P130S,Missense_A136V,Missense_A90V exm1353594 17 73132258 [A/G] NM_001002032,NM_016185,NM_001002033 HN1,HN1,HN1 EXON Missense_R129W,Missense_P135L,Missense_P89L exm1353598 17 73142764 [A/G] NM_001002032,NM_016185,NM_001002033 HN1,HN1,HN1 EXON Silent,Missense_H105Y,Missense_H59Y exm1353601 17 73143679 [C/G] NM_001002032,NM_016185,NM_001002033 HN1,HN1,HN1 EXON Missense_A90G,Missense_A90G,Missense_A44G exm1353603 17 73144665 [A/C] NM_001002032,NM_016185,NM_001002033 HN1,HN1,HN1 EXON Missense_G53V,Missense_G53V,Missense_G7V exm1353627 17 73206008 [A/G] NM_024844 NUP85 EXON Missense_N73S exm1353637 17 73209185 [T/C] NM_024844 NUP85 EXON Missense_P126S exm1353642 17 73211867 [A/G] NM_024844 NUP85 EXON Missense_M142V exm1353644 17 73211897 [A/C] NM_024844 NUP85 EXON Missense_L152I exm1353655 17 73221439 [T/C] NM_024844 NUP85 EXON Synonymous_P245P exm2253205 17 73221439 [T/C] NM_024844 NUP85 EXON Synonymous_P245P exm1353656 17 73221446 [A/G] NM_024844 NUP85 EXON Missense_T248A exm1353658 17 73221527 [A/G] NM_024844 NUP85 EXON Missense_A275T exm1353677 17 73228994 [A/G] NM_024844 NUP85 EXON Missense_R482H exm1353698 17 73230815 [T/C] NM_024844 NUP85 EXON Missense_R567W exm1353699 17 73230816 [A/G] NM_024844 NUP85 EXON Missense_R567Q exm1353703 17 73230878 [A/G] NM_024844 NUP85 EXON Missense_K588E exm1353721 17 73233599 [G/C] NM_001172703,NR_033345,NM_001172704,NM_014001,NM_138619 GGA3,GGA3,GGA3,GGA3,GGA3 EXON Silent,Silent,Missense_A575G,Silent,Silent exm1353739 17 73235099 [T/C] NM_001172703,NR_033345,NM_001172704,NM_014001,NM_138619 GGA3,GGA3,GGA3,GGA3,GGA3 EXON Missense_E544K,Silent,Missense_E494K,Missense_E583K,Missense_E616K exm1353740 17 73235123 [A/G] NM_001172703,NR_033345,NM_001172704,NM_014001,NM_138619 GGA3,GGA3,GGA3,GGA3,GGA3 EXON Missense_R536C,Silent,Missense_R486C,Missense_R575C,Missense_R608C exm1353742 17 73235146 [A/G] NM_001172703,NR_033345,NM_001172704,NM_014001,NM_138619 GGA3,GGA3,GGA3,GGA3,GGA3 EXON Missense_T528I,Silent,Missense_T478I,Missense_T567I,Missense_T600I exm1353744 17 73235467 [A/G] NM_001172703,NR_033345,NM_001172704,NM_014001,NM_138619 GGA3,GGA3,GGA3,GGA3,GGA3 EXON Missense_S518L,Silent,Missense_S468L,Missense_S557L,Missense_S590L exm1353752 17 73235549 [C/G] NM_001172703,NR_033345,NM_001172704,NM_014001,NM_138619 GGA3,GGA3,GGA3,GGA3,GGA3 EXON Missense_Q491E,Silent,Missense_Q441E,Missense_Q530E,Missense_Q563E exm1353759 17 73235650 [T/G] NM_001172703,NR_033345,NM_001172704,NM_014001,NM_138619 GGA3,GGA3,GGA3,GGA3,GGA3 EXON Missense_T457N,Silent,Missense_T407N,Missense_T496N,Missense_T529N exm1353763 17 73235919 [T/C] NM_001172703,NR_033345,NM_001172704,NM_014001,NM_138619 GGA3,GGA3,GGA3,GGA3,GGA3 EXON Missense_A440T,Silent,Missense_A390T,Missense_A479T,Missense_A512T exm1353769 17 73235951 [A/G] NM_001172703,NR_033345,NM_001172704,NM_014001,NM_138619 GGA3,GGA3,GGA3,GGA3,GGA3 EXON Missense_P429L,Silent,Missense_P379L,Missense_P468L,Missense_P501L exm1353773 17 73236005 [A/G] NM_001172703,NR_033345,NM_001172704,NM_014001,NM_138619 GGA3,GGA3,GGA3,GGA3,GGA3 EXON Missense_L411S,Silent,Missense_L361S,Missense_L450S,Missense_L483S exm1353779 17 73236063 [A/G] NM_001172703,NR_033345,NM_001172704,NM_014001,NM_138619 GGA3,GGA3,GGA3,GGA3,GGA3 EXON Missense_P392S,Silent,Missense_P342S,Missense_P431S,Missense_P464S exm2253206 17 73236124 [A/G] NM_001172703,NR_033345,NM_001172704,NM_014001,NM_138619 GGA3,GGA3,GGA3,GGA3,GGA3 EXON Synonymous_D371D,Silent,Synonymous_D321D,Synonymous_D410D,Synonymous_D443D exm1353795 17 73236912 [T/G] NM_001172703,NR_033345,NM_001172704,NM_014001,NM_138619 GGA3,GGA3,GGA3,GGA3,GGA3 EXON Missense_D319E,Silent,Missense_D269E,Missense_D358E,Missense_D391E exm1353807 17 73237124 [T/C] NM_001172703,NR_033345,NM_001172704,NM_014001,NM_138619 GGA3,GGA3,GGA3,GGA3,GGA3 EXON Missense_S249G,Silent,Missense_S199G,Missense_S288G,Missense_S321G exm1353808 17 73237133 [T/C] NM_001172703,NR_033345,NM_001172704,NM_014001,NM_138619 GGA3,GGA3,GGA3,GGA3,GGA3 EXON Missense_S246G,Silent,Missense_S196G,Missense_S285G,Missense_S318G exm1353821 17 73237751 [G/C] NM_001172703,NR_033345,NM_001172704,NM_014001,NM_138619 GGA3,GGA3,GGA3,GGA3,GGA3 EXON Missense_K186N,Silent,Missense_K136N,Missense_K225N,Missense_K258N exm1353822 17 73238430 [T/C] NM_001172703,NR_033345,NM_001172704,NM_014001,NM_138619 GGA3,GGA3,GGA3,GGA3,GGA3 EXON Missense_R173K,Silent,Missense_R123K,Missense_R212K,Missense_R245K exm1353826 17 73238508 [T/C] NM_001172703,NR_033345,NM_001172704,NM_014001,NM_138619 GGA3,GGA3,GGA3,GGA3,GGA3 EXON Missense_E147G,Silent,Missense_E97G,Missense_E186G,Missense_E219G exm1353827 17 73238509 [G/C] NM_001172703,NR_033345,NM_001172704,NM_014001,NM_138619 GGA3,GGA3,GGA3,GGA3,GGA3 EXON Missense_E147Q,Silent,Missense_E97Q,Missense_E186Q,Missense_E219Q exm1353835 17 73239193 [A/G] NM_001172703,NR_033345,NM_001172704,NM_014001,NM_138619 GGA3,GGA3,GGA3,GGA3,GGA3 EXON Missense_P88L,Silent,Missense_P38L,Missense_P127L,Missense_P160L exm1353841 17 73239557 [T/C] NM_001172703,NR_033345,NM_001172704,NM_014001,NM_138619 GGA3,GGA3,GGA3,GGA3,GGA3 EXON Missense_K60R,Silent,Missense_K10R,Missense_K99R,Missense_K132R exm2274980 17 73240737 [T/C] NM_001172703,NR_033345,NM_001172704,NM_014001,NM_138619 GGA3,GGA3,GGA3,GGA3,GGA3 EXON Missense_R16H,Silent,Silent,Silent,Missense_R88H exm1353848 17 73242591 [A/G] NM_001172703,NR_033345,NM_001172704,NM_014001,NM_138619 GGA3,GGA3,GGA3,GGA3,GGA3 EXON Silent,Silent,Silent,Missense_T67M,Missense_T67M exm1900774 17 73242606 [A/G] NM_001172703,NR_033345,NM_001172704,NM_014001,NM_138619 GGA3,GGA3,GGA3,GGA3,GGA3 EXON Silent,Silent,Silent,Missense_A62V,Missense_A62V exm1353859 17 73257986 [T/C] NM_001172703,NM_001172704,NM_015971 GGA3,GGA3,MRPS7 EXON Silent,Silent,Missense_A2V exm1353862 17 73258028 [T/C] NM_001172703,NM_001172704,NM_015971 GGA3,GGA3,MRPS7 EXON Silent,Silent,Missense_A16V exm1900791 17 73259509 [C/G] NM_015971 MRPS7 EXON Missense_T143S exm1353883 17 73261825 [A/G] NM_015971 MRPS7 EXON Missense_M184V exm1353887 17 73261868 [A/G] NM_015971 MRPS7 EXON Missense_R198Q exm1353891 17 73261963 [A/G] NM_015971 MRPS7 EXON Missense_A230T exm2273558 17 73262798 [T/C] NM_020679,NM_001242498,NM_001242500,NM_001242501 MIF4GD,MIF4GD,MIF4GD,MIF4GD EXON Silent,Silent,Silent,Silent exm2274981 17 73262826 [T/C] NM_020679,NM_001242498,NM_001242500,NM_001242501 MIF4GD,MIF4GD,MIF4GD,MIF4GD EXON Missense_D256N,Missense_D263N,Missense_D256N,Missense_D222N exm1353904 17 73263012 [T/C] NM_020679,NM_001242498,NM_001242500,NM_001242501 MIF4GD,MIF4GD,MIF4GD,MIF4GD EXON Missense_E194K,Missense_E201K,Missense_E194K,Missense_E160K exm1353906 17 73263641 [T/G] NM_020679,NM_001242498,NM_001242500,NM_001242501 MIF4GD,MIF4GD,MIF4GD,MIF4GD EXON Missense_D174A,Missense_D181A,Missense_D174A,Missense_D140A exm1353920 17 73264270 [A/G] NM_020679,NM_001242498,NM_001242500,NM_001242501 MIF4GD,MIF4GD,MIF4GD,MIF4GD EXON Missense_P63L,Missense_P70L,Missense_P63L,Missense_P29L exm1353935 17 73269698 [A/C] NR_036520,NM_021734,NM_001126122,NM_001126121 LOC100287042,SLC25A19,SLC25A19,SLC25A19 EXON Silent,Missense_M266R,Missense_M266R,Missense_M266R exm1353942 17 73273556 [A/G] NM_021734,NM_001126122,NM_001126121 SLC25A19,SLC25A19,SLC25A19 EXON Nonsense_Q218X,Nonsense_Q218X,Nonsense_Q218X exm1353947 17 73274254 [A/G] NM_021734,NM_001126122,NM_001126121 SLC25A19,SLC25A19,SLC25A19 EXON Missense_P208S,Missense_P208S,Missense_P208S exm1353948 17 73274266 [T/G] NM_021734,NM_001126122,NM_001126121 SLC25A19,SLC25A19,SLC25A19 EXON Missense_K204Q,Missense_K204Q,Missense_K204Q exm1353961 17 73279639 [C/G] NM_021734,NM_001126122,NM_001126121 SLC25A19,SLC25A19,SLC25A19 EXON Missense_H108Q,Missense_H108Q,Missense_H108Q exm1353967 17 73282518 [T/C] NM_021734,NM_001126122,NM_001126121 SLC25A19,SLC25A19,SLC25A19 EXON Missense_R52H,Missense_R52H,Missense_R52H exm1353968 17 73282527 [T/C] NM_021734,NM_001126122,NM_001126121 SLC25A19,SLC25A19,SLC25A19 EXON Missense_R49H,Missense_R49H,Missense_R49H exm2227190 17 73282770 [T/C] NM_021734,NM_001126122,NM_001126121 SLC25A19,SLC25A19,SLC25A19 EXON Missense_G26R,Missense_G26R,Missense_G26R exm2272611 17 73310573 [T/C] exm-rs6501805 17 73455928 [A/C] NM_014738 KIAA0195 Silent exm1354022 17 73482442 [T/G] NM_014738 KIAA0195 EXON Missense_R115L exm1354044 17 73484900 [T/C] NM_014738 KIAA0195 EXON Missense_S225P exm1354099 17 73487830 [A/G] NM_014738 KIAA0195 EXON Missense_N482S exm2253209 17 73488815 [T/C] NM_014738 KIAA0195 EXON Synonymous_S619S exm1354131 17 73489066 [T/C] NM_014738 KIAA0195 EXON Missense_R657C exm1354136 17 73489601 [A/G] NM_014738 KIAA0195 EXON Missense_A706T exm2253210 17 73489813 [T/C] NM_014738 KIAA0195 EXON Synonymous_C741C exm1354140 17 73489813 [T/C] NM_014738 KIAA0195 EXON Synonymous_C741C exm1354147 17 73489958 [A/G] NM_014738 KIAA0195 EXON Missense_I790V exm1354150 17 73489974 [A/G] NM_014738 KIAA0195 EXON Missense_R795H exm2276540 17 73491405 [A/G] NM_014738 KIAA0195 EXON Synonymous_E923E exm1354203 17 73494391 [T/G] NM_014738 KIAA0195 EXON Missense_V1209F exm1354205 17 73494400 [T/C] NM_014738 KIAA0195 EXON Missense_P1212S exm1354207 17 73494528 [C/G] NM_014738 KIAA0195 EXON Missense_N1214K exm1354209 17 73494578 [T/C] NM_014738 KIAA0195 EXON Missense_S1231L exm1354219 17 73495025 [A/G] NM_014738 KIAA0195 EXON Missense_D1287G exm1354239 17 73497583 [A/C] NM_001142643,NM_020753 CASKIN2,CASKIN2 EXON Missense_A1080S,Missense_A1162S exm1354256 17 73497866 [T/C] NM_001142643,NM_020753 CASKIN2,CASKIN2 EXON Missense_G1015R,Missense_G1097R exm1354268 17 73498061 [A/G] NM_001142643,NM_020753 CASKIN2,CASKIN2 EXON Missense_P950S,Missense_P1032S exm1354275 17 73498111 [A/G] NM_001142643,NM_020753 CASKIN2,CASKIN2 EXON Missense_T933M,Missense_T1015M exm1354279 17 73498201 [A/G] NM_001142643,NM_020753 CASKIN2,CASKIN2 EXON Missense_T903M,Missense_T985M exm1354286 17 73498256 [T/C] NM_001142643,NM_020753 CASKIN2,CASKIN2 EXON Missense_A885T,Missense_A967T exm1354293 17 73498328 [A/G] NM_001142643,NM_020753 CASKIN2,CASKIN2 EXON Missense_R861W,Missense_R943W exm1354298 17 73498399 [A/G] NM_001142643,NM_020753 CASKIN2,CASKIN2 EXON Missense_P837L,Missense_P919L exm1354299 17 73498469 [T/C] NM_001142643,NM_020753 CASKIN2,CASKIN2 EXON Missense_K814E,Missense_K896E exm1354301 17 73498483 [T/C] NM_001142643,NM_020753 CASKIN2,CASKIN2 EXON Missense_E809G,Missense_E891G exm1354316 17 73498651 [T/C] NM_001142643,NM_020753 CASKIN2,CASKIN2 EXON Missense_R753H,Missense_R835H exm1354317 17 73498652 [A/G] NM_001142643,NM_020753 CASKIN2,CASKIN2 EXON Missense_R753C,Missense_R835C exm1354318 17 73498661 [A/G] NM_001142643,NM_020753 CASKIN2,CASKIN2 EXON Missense_R750W,Missense_R832W exm1354336 17 73499045 [A/G] NM_001142643,NM_020753 CASKIN2,CASKIN2 EXON Missense_R622C,Missense_R704C exm1354360 17 73499607 [A/G] NM_001142643,NM_020753 CASKIN2,CASKIN2 EXON Missense_T479M,Missense_T561M exm1354366 17 73499793 [T/C] NM_001142643,NM_020753 CASKIN2,CASKIN2 EXON Missense_A461T,Missense_A543T exm1354382 17 73500355 [A/G] NM_001142643,NM_020753 CASKIN2,CASKIN2 EXON Missense_R388C,Missense_R470C exm1354389 17 73500515 [A/G] NM_001142643,NM_020753 CASKIN2,CASKIN2 EXON Missense_P372L,Missense_P454L exm1354392 17 73500672 [A/C] NM_001142643,NM_020753 CASKIN2,CASKIN2 EXON Missense_L350R,Missense_L432R exm1354393 17 73500684 [T/C] NM_001142643,NM_020753 CASKIN2,CASKIN2 EXON Missense_H346R,Missense_H428R exm1354396 17 73500739 [T/C] NM_001142643,NM_020753 CASKIN2,CASKIN2 EXON Missense_V328M,Missense_V410M exm1354397 17 73500931 [T/C] NM_001142643,NM_020753 CASKIN2,CASKIN2 EXON Missense_S303N,Missense_S385N exm1354399 17 73500973 [G/C] NM_001142643,NM_020753 CASKIN2,CASKIN2 EXON Missense_P289R,Missense_P371R exm1354411 17 73501078 [T/C] NM_001142643,NM_020753 CASKIN2,CASKIN2 EXON Missense_Y254C,Missense_Y336C exm1354423 17 73501685 [A/G] NM_001142643,NM_020753 CASKIN2,CASKIN2 EXON Missense_L213F,Missense_L295F exm1354429 17 73501905 [A/G] NM_001142643,NM_020753 CASKIN2,CASKIN2 EXON Missense_R196W,Missense_R278W exm1354438 17 73501997 [A/G] NM_001142643,NM_020753 CASKIN2,CASKIN2 EXON Missense_V165A,Missense_V247A exm1354447 17 73502427 [A/C] NM_001142643,NM_020753 CASKIN2,CASKIN2 EXON Missense_A147S,Missense_A229S exm1354451 17 73502462 [T/C] NM_001142643,NM_020753 CASKIN2,CASKIN2 EXON Missense_R135H,Missense_R217H exm1354461 17 73502764 [A/G] NM_001142643,NM_020753 CASKIN2,CASKIN2 EXON Missense_C91R,Missense_C173R exm1354463 17 73502920 [T/C] NM_001142643,NM_020753 CASKIN2,CASKIN2 EXON Missense_K67R,Missense_K149R exm1354478 17 73509815 [A/G] NM_020753 CASKIN2 EXON Missense_A24V exm1354498 17 73513281 [G/C] NM_207346 TSEN54 EXON Missense_R109G exm1354505 17 73513677 [A/C] NM_207346 TSEN54 EXON Missense_I137L exm1354522 17 73517590 [T/C] NM_207346 TSEN54 EXON Missense_R208W exm1354526 17 73517854 [T/C] NM_207346 TSEN54 EXON Missense_P231L exm1901124 17 73518024 [A/G] NM_207346 TSEN54 EXON Missense_V288I exm1354537 17 73518081 [T/G] NM_207346 TSEN54 EXON Missense_A307S exm1354541 17 73518121 [T/C] NM_207346 TSEN54 EXON Missense_P320L exm1354547 17 73518203 [C/G] NM_207346 TSEN54 EXON Missense_K347N exm1354555 17 73518276 [A/G] NM_207346 TSEN54 EXON Missense_V372M exm1354561 17 73518298 [A/G] NM_207346 TSEN54 EXON Missense_R379Q exm1354566 17 73519357 [T/C] NM_207346 TSEN54 EXON Synonymous_A418A exm1354568 17 73519413 [T/C] NM_207346 TSEN54 EXON Missense_A437V exm1354576 17 73520359 [G/C] NM_207346 TSEN54 EXON Missense_P483A exm1354578 17 73520380 [T/C] NM_207346 TSEN54 EXON Missense_R490W exm1354579 17 73520381 [A/G] NM_207346 TSEN54 EXON Missense_R490Q exm1354582 17 73520485 [C/G] NM_207346 TSEN54 EXON Missense_G525R exm1354583 17 73539559 [T/C] NM_004524,NM_001031803,NM_001015002 LLGL2,LLGL2,LLGL2 EXON Missense_R18W,Missense_R18W,Missense_R18W exm1354584 17 73539560 [A/G] NM_004524,NM_001031803,NM_001015002 LLGL2,LLGL2,LLGL2 EXON Missense_R18Q,Missense_R18Q,Missense_R18Q exm1354590 17 73552128 [T/C] NM_004524,NM_001031803,NM_001015002 LLGL2,LLGL2,LLGL2 EXON Missense_T26M,Missense_T26M,Missense_T26M exm1354592 17 73552176 [T/C] NM_004524,NM_001031803,NM_001015002 LLGL2,LLGL2,LLGL2 EXON Missense_P42L,Missense_P42L,Missense_P42L exm1354594 17 73552185 [A/G] NM_004524,NM_001031803,NM_001015002 LLGL2,LLGL2,LLGL2 EXON Missense_R45H,Missense_R45H,Missense_R45H exm1354602 17 73554261 [A/G] NM_004524,NM_001031803,NM_001015002 LLGL2,LLGL2,LLGL2 EXON Missense_M67V,Missense_M67V,Missense_M67V exm1354605 17 73554292 [T/C] NM_004524,NM_001031803,NM_001015002 LLGL2,LLGL2,LLGL2 EXON Missense_T77M,Missense_T77M,Missense_T77M exm1354618 17 73554701 [T/C] NM_004524,NM_001031803,NM_001015002 LLGL2,LLGL2,LLGL2 EXON Missense_P122S,Missense_P122S,Missense_P122S exm1354627 17 73555446 [A/G] NM_004524,NM_001031803,NM_001015002 LLGL2,LLGL2,LLGL2 EXON Missense_R162H,Missense_R162H,Missense_R162H exm1354629 17 73555461 [A/G] NM_004524,NM_001031803,NM_001015002 LLGL2,LLGL2,LLGL2 EXON Missense_R167Q,Missense_R167Q,Missense_R167Q exm1354632 17 73555478 [A/G] NM_004524,NM_001031803,NM_001015002 LLGL2,LLGL2,LLGL2 EXON Missense_A173T,Missense_A173T,Missense_A173T exm1354633 17 73555479 [T/C] NM_004524,NM_001031803,NM_001015002 LLGL2,LLGL2,LLGL2 EXON Missense_A173V,Missense_A173V,Missense_A173V exm1354634 17 73555490 [T/C] NM_004524,NM_001031803,NM_001015002 LLGL2,LLGL2,LLGL2 EXON Missense_R177W,Missense_R177W,Missense_R177W exm1901158 17 73559192 [A/G] NM_004524,NM_001031803,NM_001015002 LLGL2,LLGL2,LLGL2 EXON Missense_S209N,Missense_S209N,Missense_S209N exm1354641 17 73559233 [A/G] NM_004524,NM_001031803,NM_001015002 LLGL2,LLGL2,LLGL2 EXON Missense_V223M,Missense_V223M,Missense_V223M exm1354649 17 73559493 [A/G] NM_004524,NM_001031803,NM_001015002 LLGL2,LLGL2,LLGL2 EXON Missense_V259M,Missense_V259M,Missense_V259M exm1354658 17 73560468 [T/C] NM_004524,NM_001031803,NM_001015002 LLGL2,LLGL2,LLGL2 EXON Missense_R306W,Missense_R306W,Missense_R306W exm1354676 17 73560601 [T/C] NM_004524,NM_001031803,NM_001015002 LLGL2,LLGL2,LLGL2 EXON Silent,Silent,Missense_S350L exm1354684 17 73564739 [A/G] NM_004524,NM_001031803 LLGL2,LLGL2 EXON Missense_A407T,Missense_A407T exm1354695 17 73565108 [T/C] NM_004524,NM_001031803 LLGL2,LLGL2 EXON Missense_R458W,Missense_R458W exm1354698 17 73565154 [T/C] NM_004524,NM_001031803 LLGL2,LLGL2 EXON Missense_T473M,Missense_T473M exm1354703 17 73565171 [T/C] NM_004524,NM_001031803 LLGL2,LLGL2 EXON Missense_F479L,Missense_F479L exm1354719 17 73566094 [C/G] NM_004524,NM_001031803 LLGL2,LLGL2 EXON Missense_Q544H,Missense_Q544H exm1354720 17 73566101 [A/G] NM_004524,NM_001031803 LLGL2,LLGL2 EXON Missense_A547T,Missense_A547T exm2253212 17 73566226 [A/G] NM_004524,NM_001031803 LLGL2,LLGL2 EXON Synonymous_P588P,Synonymous_P588P exm1354731 17 73566281 [A/C] NM_004524,NM_001031803 LLGL2,LLGL2 EXON Missense_T607P,Missense_T607P exm1354733 17 73566318 [T/G] NM_004524,NM_001031803 LLGL2,LLGL2 EXON Missense_R619L,Missense_R619L exm1354738 17 73566469 [T/C] NM_004524,NM_001031803 LLGL2,LLGL2 EXON Missense_P639S,Missense_P639S exm1354746 17 73566530 [A/G] NM_004524,NM_001031803 LLGL2,LLGL2 EXON Missense_R659Q,Missense_R659Q exm1354747 17 73566554 [A/G] NM_004524,NM_001031803 LLGL2,LLGL2 EXON Missense_R667Q,Missense_R667Q exm1354749 17 73567040 [A/G] NM_004524,NM_001031803 LLGL2,LLGL2 EXON Missense_G679R,Missense_G679R exm1354750 17 73567046 [A/G] NM_004524,NM_001031803 LLGL2,LLGL2 EXON Missense_A681T,Missense_A681T exm1354751 17 73567097 [T/C] NM_004524,NM_001031803 LLGL2,LLGL2 EXON Missense_R698C,Missense_R698C exm1354755 17 73567160 [A/G] NM_004524,NM_001031803 LLGL2,LLGL2 EXON Missense_A719T,Missense_A719T exm1354758 17 73567751 [T/C] NM_004524,NM_001031803 LLGL2,LLGL2 EXON Missense_S727F,Missense_S727F exm1354762 17 73567801 [A/G] NM_004524,NM_001031803 LLGL2,LLGL2 EXON Missense_A744T,Missense_A744T exm1354764 17 73567813 [T/C] NM_004524,NM_001031803 LLGL2,LLGL2 EXON Missense_R748C,Missense_R748C exm1354765 17 73567814 [A/G] NM_004524,NM_001031803 LLGL2,LLGL2 EXON Missense_R748H,Missense_R748H exm1354769 17 73567832 [A/G] NM_004524,NM_001031803 LLGL2,LLGL2 EXON Missense_R754Q,Missense_R754Q exm1354770 17 73567846 [T/C] NM_004524,NM_001031803 LLGL2,LLGL2 EXON Missense_P759S,Missense_P759S exm1354782 17 73568084 [T/C] NM_004524,NM_001031803 LLGL2,LLGL2 EXON Missense_S800L,Missense_S800L exm1354784 17 73568125 [A/G] NM_004524,NM_001031803 LLGL2,LLGL2 EXON Missense_V814I,Missense_V814I exm1354799 17 73569308 [T/C] NM_004524,NM_001031803 LLGL2,LLGL2 EXON Missense_R892W,Missense_R892W exm1354800 17 73569309 [A/G] NM_004524,NM_001031803 LLGL2,LLGL2 EXON Missense_R892Q,Missense_R892Q exm1354805 17 73569338 [A/G] NM_004524,NM_001031803 LLGL2,LLGL2 EXON Missense_V902I,Missense_V902I exm1354811 17 73569590 [A/T] NM_004524,NM_001031803 LLGL2,LLGL2 EXON Missense_F918L,Missense_F918L exm1354815 17 73569666 [T/C] NM_004524,NM_001031803 LLGL2,LLGL2 EXON Missense_R944C,Missense_R944C exm1354823 17 73569700 [G/C] NM_004524,NM_001031803 LLGL2,LLGL2 EXON Missense_P955R,Missense_P955R exm1354837 17 73570321 [T/G] NM_004524,NM_001031803 LLGL2,LLGL2 EXON Missense_R978L,Missense_R978L exm1354838 17 73570324 [T/C] NM_004524,NM_001031803 LLGL2,LLGL2 EXON Missense_A979V,Missense_A979V exm1354843 17 73570695 [A/G] NM_004524,NM_001031803 LLGL2,LLGL2 EXON Synonymous_A986A,Missense_G1001S exm1354844 17 73570704 [T/C] NM_004524,NM_001031803 LLGL2,LLGL2 EXON Synonymous_G989G,Missense_R1004C exm1354845 17 73570713 [T/C] NM_004524,NM_001031803 LLGL2,LLGL2 EXON Synonymous_I992I,Nonsense_R1007X exm1354846 17 73570718 [C/G] NM_004524,NM_001031803 LLGL2,LLGL2 EXON Missense_P994R,Synonymous_A1008A exm1354847 17 73570721 [T/C] NM_004524,NM_001031803 LLGL2,LLGL2 EXON Missense_P995L,Synonymous_A1009A exm1354848 17 73570726 [G/C] NM_004524,NM_001031803 LLGL2,LLGL2 EXON Missense_G997R,Missense_G1011A exm1354854 17 73570970 [A/G] NM_004524,NM_001031803 LLGL2,LLGL2 EXON Missense_V1011I,Silent exm-IND17-71104163 17 73592569 [I/D] NR_003587 MYO15B EXON exm1354904 17 73623542 [T/C] NM_004259 RECQL5 EXON Missense_S979N exm1354911 17 73623703 [T/C] NM_004259 RECQL5 EXON Missense_V959M exm1354913 17 73623750 [T/C] NM_004259 RECQL5 EXON Missense_R943H exm1354914 17 73623753 [A/G] NM_004259 RECQL5 EXON Missense_A942V exm1901233 17 73623772 [T/C] NM_004259 RECQL5 EXON Missense_E936K exm1354915 17 73623774 [T/C] NM_004259 RECQL5 Silent exm1354917 17 73624353 [T/G] NM_004259 RECQL5 EXON Missense_N917T exm1354920 17 73624414 [A/G] NM_004259 RECQL5 EXON Missense_P897S exm1354925 17 73624468 [T/C] NM_004259 RECQL5 EXON Missense_V879I exm1354932 17 73625030 [A/G] NM_004259 RECQL5 EXON Missense_L825F exm1354938 17 73625173 [A/G] NM_004259 RECQL5 EXON Missense_L777P exm1354939 17 73625179 [A/G] NM_004259 RECQL5 EXON Missense_P775L exm1354940 17 73625194 [T/C] NM_004259 RECQL5 EXON Missense_R770Q exm1354942 17 73625206 [T/C] NM_004259 RECQL5 EXON Missense_R766H exm1354943 17 73625210 [T/C] NM_004259 RECQL5 EXON Missense_A765T exm1354945 17 73625213 [A/T] NM_004259 RECQL5 EXON Missense_I764F exm1354946 17 73625231 [A/G] NM_004259 RECQL5 EXON Missense_H758Y exm1354951 17 73625422 [A/G] NM_004259 RECQL5 EXON Missense_P694L exm1354959 17 73625509 [A/G] NM_004259 RECQL5 EXON Missense_P665L exm1354963 17 73625825 [T/C] NM_004259 RECQL5 EXON Missense_N637S exm1354971 17 73626335 [T/C] NM_004259 RECQL5 EXON Missense_V581M exm1354972 17 73626346 [T/C] NM_004259 RECQL5 EXON Missense_R577Q exm1354998 17 73627089 [T/C] NM_004259 RECQL5 EXON Missense_G517D exm1355009 17 73627319 [T/C] NM_004259 RECQL5 EXON Missense_G487S exm1355011 17 73627539 [T/C] NM_004259 RECQL5 EXON Missense_D480G exm1355016 17 73627633 [A/G] NM_004259 RECQL5 EXON Missense_R449C exm1355017 17 73627650 [T/C] NM_004259 RECQL5 EXON Missense_R443Q exm1355021 17 73627666 [T/C] NM_004259 RECQL5 EXON Missense_T438A exm1355025 17 73627717 [T/C] NM_004259 RECQL5 EXON Missense_G421R exm1355053 17 73654523 [T/C] NM_004259,NM_001003716,NM_001003715 RECQL5,RECQL5,RECQL5 EXON Missense_N335S,Missense_N335S,Missense_N335S exm1355060 17 73657745 [A/C] NM_004259,NM_001003716,NM_001003715 RECQL5,RECQL5,RECQL5 EXON Missense_C272F,Missense_C272F,Missense_C272F exm1355076 17 73658791 [T/C] NM_004259,NM_001003716,NM_001003715 RECQL5,RECQL5,RECQL5 EXON Missense_R180H,Missense_R180H,Missense_R180H exm1355091 17 73661132 [T/C] NM_004259,NM_001003716,NM_001003715 RECQL5,RECQL5,RECQL5 EXON Missense_Q84R,Missense_Q84R,Missense_Q84R exm1355092 17 73661193 [C/G] NM_004259,NM_001003716,NM_001003715 RECQL5,RECQL5,RECQL5 EXON Missense_L64V,Missense_L64V,Missense_L64V exm1355098 17 73662582 [A/G] NM_004259,NM_001003716,NM_001003715 RECQL5,RECQL5,RECQL5 EXON Missense_T19M,Missense_T19M,Missense_T19M exm1901310 17 73662633 [T/C] NM_004259,NM_001003716,NM_001003715 RECQL5,RECQL5,RECQL5 EXON Missense_S2N,Missense_S2N,Missense_S2N exm1355117 17 73695940 [A/C] NM_013260 SAP30BP EXON Missense_N129H exm1355119 17 73695952 [A/G] NM_013260 SAP30BP Silent exm1355125 17 73699907 [T/G] NM_013260 SAP30BP EXON Missense_G190V exm1355133 17 73702133 [A/G] NM_013260 SAP30BP EXON Missense_T236A exm1355137 17 73702474 [C/G] NM_013260 SAP30BP EXON Missense_A267G exm1355143 17 73720794 [T/C] NM_000213,NM_001005731,NM_001005619 ITGB4,ITGB4,ITGB4 EXON Missense_P4L,Missense_P4L,Missense_P4L exm1355155 17 73723340 [A/G] NM_000213,NM_001005731,NM_001005619 ITGB4,ITGB4,ITGB4 EXON Missense_A49T,Missense_A49T,Missense_A49T exm1355159 17 73723516 [T/C] NM_000213,NM_001005731,NM_001005619 ITGB4,ITGB4,ITGB4 EXON Missense_A65V,Missense_A65V,Missense_A65V exm1355172 17 73723798 [T/C] NM_000213,NM_001005731,NM_001005619 ITGB4,ITGB4,ITGB4 EXON Missense_R111W,Missense_R111W,Missense_R111W exm1355173 17 73723799 [A/G] NM_000213,NM_001005731,NM_001005619 ITGB4,ITGB4,ITGB4 EXON Missense_R111Q,Missense_R111Q,Missense_R111Q exm1355179 17 73723855 [A/G] NM_000213,NM_001005731,NM_001005619 ITGB4,ITGB4,ITGB4 EXON Missense_V130M,Missense_V130M,Missense_V130M exm1355180 17 73723874 [A/T] NM_000213,NM_001005731,NM_001005619 ITGB4,ITGB4,ITGB4 EXON Missense_M136K,Missense_M136K,Missense_M136K exm1355182 17 73723923 [A/G] NM_000213,NM_001005731,NM_001005619 ITGB4,ITGB4,ITGB4 EXON Missense_M152I,Missense_M152I,Missense_M152I exm1355186 17 73724490 [A/G] NM_000213,NM_001005731,NM_001005619 ITGB4,ITGB4,ITGB4 EXON Missense_T168A,Missense_T168A,Missense_T168A exm1355195 17 73725378 [T/C] NM_000213,NM_001005731,NM_001005619 ITGB4,ITGB4,ITGB4 EXON Missense_P200L,Missense_P200L,Missense_P200L exm1355196 17 73725429 [A/G] NM_000213,NM_001005731,NM_001005619 ITGB4,ITGB4,ITGB4 EXON Missense_R217Q,Missense_R217Q,Missense_R217Q exm1355204 17 73726337 [C/G] NM_000213,NM_001005731,NM_001005619 ITGB4,ITGB4,ITGB4 EXON Missense_R252G,Missense_R252G,Missense_R252G exm1355227 17 73727415 [A/G] NM_000213,NM_001005731,NM_001005619 ITGB4,ITGB4,ITGB4 EXON Missense_R394K,Missense_R394K,Missense_R394K exm1355229 17 73727939 [T/C] NM_000213,NM_001005731,NM_001005619 ITGB4,ITGB4,ITGB4 EXON Missense_T421M,Missense_T421M,Missense_T421M exm1355235 17 73728020 [T/C] NM_000213,NM_001005731,NM_001005619 ITGB4,ITGB4,ITGB4 EXON Missense_A448V,Missense_A448V,Missense_A448V exm1355236 17 73728022 [A/G] NM_000213,NM_001005731,NM_001005619 ITGB4,ITGB4,ITGB4 EXON Missense_G449S,Missense_G449S,Missense_G449S exm1355241 17 73728257 [A/G] NM_000213,NM_001005731,NM_001005619 ITGB4,ITGB4,ITGB4 EXON Missense_R464Q,Missense_R464Q,Missense_R464Q exm1355242 17 73728260 [T/C] NM_000213,NM_001005731,NM_001005619 ITGB4,ITGB4,ITGB4 EXON Missense_S465L,Missense_S465L,Missense_S465L exm2253215 17 73728294 [T/C] NM_000213,NM_001005731,NM_001005619 ITGB4,ITGB4,ITGB4 EXON Synonymous_C476C,Synonymous_C476C,Synonymous_C476C exm1355247 17 73728300 [T/G] NM_000213,NM_001005731,NM_001005619 ITGB4,ITGB4,ITGB4 EXON Missense_Q478H,Missense_Q478H,Missense_Q478H exm1355248 17 73729630 [A/G] NM_000213,NM_001005731,NM_001005619 ITGB4,ITGB4,ITGB4 EXON Missense_R505Q,Missense_R505Q,Missense_R505Q exm1355253 17 73729660 [A/G] NM_000213,NM_001005731,NM_001005619 ITGB4,ITGB4,ITGB4 EXON Missense_R515H,Missense_R515H,Missense_R515H exm1355262 17 73732140 [T/C] NM_000213,NM_001005731,NM_001005619 ITGB4,ITGB4,ITGB4 EXON Missense_R556C,Missense_R556C,Missense_R556C exm1355263 17 73732141 [A/G] NM_000213,NM_001005731,NM_001005619 ITGB4,ITGB4,ITGB4 EXON Missense_R556H,Missense_R556H,Missense_R556H exm1355282 17 73732709 [A/G] NM_000213,NM_001005731,NM_001005619 ITGB4,ITGB4,ITGB4 EXON Missense_E642K,Missense_E642K,Missense_E642K exm1355289 17 73733421 [A/G] NM_000213,NM_001005731,NM_001005619 ITGB4,ITGB4,ITGB4 EXON Missense_R670H,Missense_R670H,Missense_R670H exm2227210 17 73733520 [A/G] NM_000213,NM_001005731,NM_001005619 ITGB4,ITGB4,ITGB4 EXON Missense_K703R,Missense_K703R,Missense_K703R exm1355300 17 73733712 [T/G] NM_000213,NM_001005731,NM_001005619 ITGB4,ITGB4,ITGB4 EXON Missense_C736F,Missense_C736F,Missense_C736F exm1355306 17 73735787 [T/G] NM_000213,NM_001005731,NM_001005619 ITGB4,ITGB4,ITGB4 Silent,Silent,Silent exm1355312 17 73736035 [A/C] NM_000213,NM_001005731,NM_001005619 ITGB4,ITGB4,ITGB4 EXON Missense_P777T,Missense_P777T,Missense_P777T exm1355318 17 73736128 [A/G] NM_000213,NM_001005731,NM_001005619 ITGB4,ITGB4,ITGB4 EXON Missense_A808T,Missense_A808T,Missense_A808T exm1355326 17 73736469 [A/G] NM_000213,NM_001005731,NM_001005619 ITGB4,ITGB4,ITGB4 EXON Missense_R826H,Missense_R826H,Missense_R826H exm2227211 17 73736495 [C/G] NM_000213,NM_001005731,NM_001005619 ITGB4,ITGB4,ITGB4 EXON Missense_P835A,Missense_P835A,Missense_P835A exm1355329 17 73736513 [A/G] NM_000213,NM_001005731,NM_001005619 ITGB4,ITGB4,ITGB4 EXON Missense_A841T,Missense_A841T,Missense_A841T exm1355331 17 73736523 [T/G] NM_000213,NM_001005731,NM_001005619 ITGB4,ITGB4,ITGB4 EXON Missense_R844L,Missense_R844L,Missense_R844L exm1355335 17 73736880 [A/G] NM_000213,NM_001005731,NM_001005619 ITGB4,ITGB4,ITGB4 EXON Missense_E853K,Missense_E853K,Missense_E853K exm1355337 17 73736926 [A/G] NM_000213,NM_001005731,NM_001005619 ITGB4,ITGB4,ITGB4 EXON Missense_K868R,Missense_K868R,Missense_K868R exm1355342 17 73738426 [A/G] NM_000213,NM_001005731,NM_001005619 ITGB4,ITGB4,ITGB4 EXON Missense_D880N,Missense_D880N,Missense_D880N exm1355348 17 73738489 [T/C] NM_000213,NM_001005731,NM_001005619 ITGB4,ITGB4,ITGB4 EXON Missense_L901F,Missense_L901F,Missense_L901F exm1355357 17 73738713 [T/C] NM_000213,NM_001005731,NM_001005619 ITGB4,ITGB4,ITGB4 EXON Missense_R945W,Missense_R945W,Missense_R945W exm1355358 17 73738714 [A/G] NM_000213,NM_001005731,NM_001005619 ITGB4,ITGB4,ITGB4 EXON Missense_R945Q,Missense_R945Q,Missense_R945Q exm1355362 17 73738776 [A/G] NM_000213,NM_001005731,NM_001005619 ITGB4,ITGB4,ITGB4 EXON Missense_D966N,Missense_D966N,Missense_D966N exm1355366 17 73738798 [A/C] NM_000213,NM_001005731,NM_001005619 ITGB4,ITGB4,ITGB4 EXON Missense_T973N,Missense_T973N,Missense_T973N exm1355369 17 73738809 [T/C] NM_000213,NM_001005731,NM_001005619 ITGB4,ITGB4,ITGB4 EXON Missense_R977C,Missense_R977C,Missense_R977C exm1355371 17 73739827 [T/C] NM_000213,NM_001005731,NM_001005619 ITGB4,ITGB4,ITGB4 EXON Missense_F999S,Missense_F999S,Missense_F999S exm1355382 17 73745031 [A/G] NM_000213,NM_001005731,NM_001005619 ITGB4,ITGB4,ITGB4 EXON Missense_R1074H,Missense_R1074H,Missense_R1074H exm1901429 17 73746260 [A/G] NM_000213,NM_001005731,NM_001005619 ITGB4,ITGB4,ITGB4 EXON Missense_A1129T,Missense_A1129T,Missense_A1129T exm1355395 17 73746302 [A/G] NM_000213,NM_001005731,NM_001005619 ITGB4,ITGB4,ITGB4 EXON Missense_I1143V,Missense_I1143V,Missense_I1143V exm1355405 17 73746884 [A/G] NM_000213,NM_001005731,NM_001005619 ITGB4,ITGB4,ITGB4 EXON Missense_G1200R,Missense_G1200R,Missense_G1200R exm1355429 17 73748568 [A/G] NM_000213,NM_001005731,NM_001005619 ITGB4,ITGB4,ITGB4 EXON Missense_G1340R,Missense_G1340R,Missense_G1340R exm1355436 17 73748643 [A/G] NM_000213,NM_001005731,NM_001005619 ITGB4,ITGB4,ITGB4 EXON Missense_V1365I,Missense_V1365I,Missense_V1365I exm1355451 17 73750827 [T/C] NM_000213,NM_001005731,NM_001005619 ITGB4,ITGB4,ITGB4 EXON Missense_R1497C,Missense_R1427C,Missense_R1427C exm1355460 17 73751175 [T/C] NM_000213,NM_001005731,NM_001005619 ITGB4,ITGB4,ITGB4 EXON Silent,Silent,Missense_P1463L exm1355473 17 73751812 [T/C] NM_000213,NM_001005731,NM_001005619 ITGB4,ITGB4,ITGB4 EXON Missense_T1530M,Missense_T1460M,Missense_T1513M exm1355481 17 73751928 [A/G] NM_000213,NM_001005731,NM_001005619 ITGB4,ITGB4,ITGB4 EXON Missense_G1569S,Missense_G1499S,Missense_G1552S exm1355482 17 73751930 [T/C] NM_000213,NM_001005731,NM_001005619 ITGB4,ITGB4,ITGB4 EXON Synonymous_G1569G,Synonymous_G1499G,Synonymous_G1552G exm2274983 17 73752881 [A/G] NM_000213,NM_001005731,NM_001005619 ITGB4,ITGB4,ITGB4 EXON Missense_R1665Q,Missense_R1595Q,Missense_R1648Q exm1355512 17 73753059 [T/C] NM_000213,NM_001005731,NM_001005619 ITGB4,ITGB4,ITGB4 EXON Missense_P1697S,Missense_P1627S,Missense_P1680S exm1355527 17 73753305 [A/G] NM_000213,NM_001005731,NM_001005619 ITGB4,ITGB4,ITGB4 EXON Missense_R1748H,Missense_R1678H,Missense_R1731H exm1355528 17 73753310 [A/G] NM_000213,NM_001005731,NM_001005619 ITGB4,ITGB4,ITGB4 EXON Missense_G1750R,Missense_G1680R,Missense_G1733R exm1355537 17 73753503 [T/C] NM_000213,NM_001005731,NM_001005619 ITGB4,ITGB4,ITGB4 EXON Missense_L1779P,Missense_L1709P,Missense_L1762P exm1355544 17 73753575 [A/G] NM_000213,NM_001005731,NM_001005619 ITGB4,ITGB4,ITGB4 EXON Missense_R1803Q,Missense_R1733Q,Missense_R1786Q exm1355586 17 73758832 [A/G] NM_000154 GALK1 EXON Missense_A249V exm2253216 17 73758933 [A/G] NM_000154 GALK1 EXON Synonymous_D215D exm1355599 17 73759113 [A/G] NM_000154 GALK1 EXON Missense_A198V exm2253217 17 73759444 [A/G] NM_000154 GALK1 EXON Synonymous_S144S exm2260705 17 73767437 [A/G] exm-rs2125345 17 73782191 [T/C] NR_038131,NM_001080419 UNK,UNK Silent,Silent exm1355675 17 73805945 [A/G] NM_001080419 UNK EXON Missense_R70Q exm1355697 17 73809906 [A/G] NM_001080419 UNK EXON Missense_G275R exm1355708 17 73812937 [A/G] NM_001080419 UNK EXON Missense_A350T exm2253218 17 73813514 [A/G] NM_001080419 UNK EXON Synonymous_E404E exm1355755 17 73819417 [C/G] NM_001080419 UNK EXON Missense_E697D exm1355783 17 73824982 [T/C] NM_199242 UNC13D EXON Missense_D1013N exm2227217 17 73826146 [T/C] NM_199242 UNC13D EXON Missense_K973E exm1355793 17 73826167 [A/G] NM_199242 UNC13D EXON Missense_R966W exm1355794 17 73826170 [T/C] NM_199242 UNC13D EXON Missense_A965T exm1355798 17 73826445 [T/C] NM_199242 UNC13D EXON Missense_N943S exm1355800 17 73826490 [T/C] NM_199242 UNC13D EXON Missense_R928H exm1355801 17 73826491 [A/G] NM_199242 UNC13D EXON Missense_R928C exm1355805 17 73827205 [T/C] NM_199242 UNC13D EXON Missense_K867E exm1901582 17 73827216 [T/C] NM_199242 UNC13D EXON Missense_G863D exm1355809 17 73827335 [T/G] NM_199242 UNC13D EXON Missense_I848L exm1355815 17 73827382 [A/G] NM_199242 UNC13D EXON Missense_A832V exm1355822 17 73830182 [T/C] NM_199242 UNC13D EXON Missense_V781I exm1355823 17 73830188 [T/C] NM_199242 UNC13D EXON Missense_V779M exm1355838 17 73830707 [T/C] NM_199242 UNC13D EXON Missense_A695T exm1355841 17 73830745 [T/C] NM_199242 UNC13D EXON Missense_R682H exm1355859 17 73831566 [A/G] NM_199242 UNC13D EXON Missense_P591L exm1355860 17 73831578 [T/C] NM_199242 UNC13D EXON Missense_R587H exm1355861 17 73831579 [A/G] NM_199242 UNC13D EXON Missense_R587C exm1355873 17 73831848 [A/C] NM_199242 UNC13D EXON Missense_R536L exm1355874 17 73831858 [T/C] NM_199242 UNC13D EXON Missense_V533M exm1355876 17 73831934 [A/C] NM_199242 UNC13D Silent exm1355877 17 73831953 [A/G] NM_199242 UNC13D EXON Missense_R527W exm1355891 17 73832719 [T/C] NM_199242 UNC13D EXON Missense_R411Q exm1901615 17 73832723 [T/G] NM_199242 UNC13D EXON Missense_I410L exm1355894 17 73832735 [T/C] NM_199242 UNC13D EXON Missense_G406S exm1355899 17 73832924 [C/G] NM_199242 UNC13D EXON Missense_S377R exm1355916 17 73836146 [A/G] NM_199242 UNC13D EXON Missense_L302F exm1355921 17 73836181 [A/G] NM_199242 UNC13D EXON Missense_S290L exm1355925 17 73836317 [T/C] NM_199242 UNC13D EXON Missense_I283V exm1355926 17 73836347 [A/G] NM_199242 UNC13D EXON Nonsense_R273X exm1355927 17 73836353 [A/G] NM_199242 UNC13D EXON Missense_P271S exm1901629 17 73836398 [A/G] NM_199242 UNC13D EXON Nonsense_R256X exm1355939 17 73836856 [A/G] NM_199242 UNC13D EXON Missense_H224Y exm1355940 17 73836864 [A/G] NM_199242 UNC13D EXON Missense_T221M exm1355942 17 73837042 [T/C] NM_199242 UNC13D EXON Missense_M204V exm2274984 17 73837050 [T/C] NM_199242 UNC13D EXON Missense_H201R exm2253219 17 73838516 [T/G] NM_199242 UNC13D EXON Synonymous_I189I exm1355967 17 73839274 [A/G] NM_199242 UNC13D EXON Missense_T76M exm1355969 17 73839326 [T/C] NM_199242 UNC13D EXON Missense_A59T exm1355977 17 73840306 [C/G] NM_199242 UNC13D EXON Missense_P38R exm2227222 17 73840348 [T/C] NM_199242 UNC13D EXON Missense_R24H exm1356016 17 73844674 [T/C] NM_012478 WBP2 EXON Missense_R125Q exm1356027 17 73847719 [T/C] NM_012478 WBP2 EXON Missense_N33S exm1356070 17 73870965 [T/C] NM_033452 TRIM47 EXON Missense_E506K exm1356071 17 73870977 [A/C] NM_033452 TRIM47 EXON Missense_F502V exm2227231 17 73872100 [T/A] NM_033452 TRIM47 EXON Missense_K361N exm1356102 17 73872539 [T/C] NM_033452 TRIM47 EXON Missense_R269Q exm1356109 17 73872827 [T/C] NM_033452 TRIM47 EXON Missense_Q248R exm1356117 17 73872894 [A/C] NM_033452 TRIM47 EXON Missense_A226S exm-rs1055129 17 73872948 [A/G] NM_033452 TRIM47 Silent exm1356144 17 73886888 [A/G] NM_001256124,NM_173547 TRIM65,TRIM65 EXON Missense_L487P,Missense_L509P exm1356149 17 73886952 [T/C] NM_001256124,NM_173547 TRIM65,TRIM65 EXON Missense_V466I,Missense_V488I exm1356152 17 73887089 [T/C] NM_001256124,NM_173547 TRIM65,TRIM65 EXON Missense_R420H,Missense_R442H exm1356154 17 73887135 [T/C] NM_001256124,NM_173547 TRIM65,TRIM65 EXON Missense_V405I,Missense_V427I exm1356157 17 73887162 [A/G] NM_001256124,NM_173547 TRIM65,TRIM65 EXON Missense_R396W,Missense_R418W exm1356158 17 73887167 [A/G] NM_001256124,NM_173547 TRIM65,TRIM65 EXON Missense_I394T,Missense_I416T exm1356163 17 73887249 [A/G] NM_001256124,NM_173547 TRIM65,TRIM65 EXON Missense_R367C,Missense_R389C exm1356164 17 73887270 [T/C] NM_001256124,NM_173547 TRIM65,TRIM65 EXON Missense_G360R,Missense_G382R exm1356168 17 73887318 [T/C] NM_001256124,NM_173547 TRIM65,TRIM65 EXON Missense_G344S,Missense_G366S exm1356178 17 73887423 [A/G] NM_001256124,NM_173547 TRIM65,TRIM65 EXON Missense_R309C,Missense_R331C exm1356193 17 73888167 [A/G] NM_001256124,NM_173547 TRIM65,TRIM65 EXON Missense_R282W,Missense_R282W exm1356197 17 73888262 [A/G] NM_001256124,NM_173547 TRIM65,TRIM65 EXON Missense_S250L,Missense_S250L exm1356204 17 73888407 [A/G] NM_001256124,NM_173547 TRIM65,TRIM65 EXON Missense_R229C,Missense_R229C exm1356209 17 73888437 [A/G] NM_001256124,NM_173547 TRIM65,TRIM65 EXON Missense_R219W,Missense_R219W exm1356210 17 73888439 [T/C] NM_001256124,NM_173547 TRIM65,TRIM65 EXON Missense_Q218R,Missense_Q218R exm1356217 17 73888472 [A/G] NM_001256124,NM_173547 TRIM65,TRIM65 EXON Missense_T207M,Missense_T207M exm1356218 17 73888478 [A/G] NM_001256124,NM_173547 TRIM65,TRIM65 EXON Missense_A205V,Missense_A205V exm1901750 17 73888898 [A/G] NM_001256124,NM_173547 TRIM65,TRIM65 EXON Nonsense_Q150X,Nonsense_Q150X exm1901751 17 73888900 [A/T] NM_001256124,NM_173547 TRIM65,TRIM65 EXON Missense_Q149L,Missense_Q149L exm1356247 17 73894963 [C/G] NM_032478 MRPL38 EXON Missense_D371H exm1356250 17 73895007 [T/C] NM_032478 MRPL38 EXON Missense_R356H exm1356253 17 73895061 [T/C] NM_032478 MRPL38 EXON Missense_R338Q exm1356257 17 73895322 [T/G] NM_032478 MRPL38 EXON Missense_Q308P exm1356278 17 73895744 [A/G] NM_032478 MRPL38 EXON Missense_P241L exm1356287 17 73897344 [A/G] NM_032478 MRPL38 EXON Missense_A201V exm1356297 17 73897977 [T/C] NM_032478 MRPL38 EXON Missense_R136Q exm1356306 17 73898131 [C/G] NM_032478 MRPL38 EXON Missense_E118Q exm1356311 17 73898188 [A/G] NM_032478 MRPL38 EXON Missense_R99W exm2227235 17 73900717 [A/G] NM_032478 MRPL38 EXON Missense_Y51H exm2227236 17 73900776 [C/G] NM_032478 MRPL38 EXON Missense_P31R exm1356328 17 73908358 [G/C] NM_001080542 FBF1 EXON Missense_W1078S exm1356349 17 73910346 [A/G] NM_001080542 FBF1 EXON Missense_L935F exm1356358 17 73910971 [A/C] NM_001080542 FBF1 EXON Missense_G876W exm2227239 17 73910976 [T/G] NM_001080542 FBF1 EXON Missense_K874T exm1356370 17 73913919 [T/C] NM_001080542 FBF1 EXON Missense_R785Q exm1356381 17 73914100 [A/G] NM_001080542 FBF1 EXON Synonymous_H751H exm1901817 17 73914244 [A/G] NM_001080542 FBF1 EXON Missense_R734W exm1356387 17 73914307 [A/G] NM_001080542 FBF1 EXON Nonsense_Q713X exm1356391 17 73915762 [A/G] NM_001080542 FBF1 EXON Missense_R694W exm1356393 17 73915803 [A/G] NM_001080542 FBF1 EXON Missense_A680V exm1901822 17 73915839 [T/C] NM_001080542 FBF1 EXON Missense_R668H exm1356404 17 73916087 [C/G] NM_001080542 FBF1 Silent exm1356416 17 73916423 [T/A] NM_001080542 FBF1 EXON Missense_C573S exm1356419 17 73916486 [A/G] NM_001080542 FBF1 EXON Missense_R552W exm1356422 17 73917365 [A/G] NM_001080542 FBF1 EXON Missense_P530L exm1356424 17 73917372 [A/G] NM_001080542 FBF1 EXON Missense_C528R exm1356427 17 73917616 [T/C] NM_001080542 FBF1 EXON Missense_A503T exm1356430 17 73918072 [T/C] NM_001080542 FBF1 EXON Missense_G479R exm1356434 17 73919285 [A/C] NM_001080542 FBF1 EXON Missense_G454V exm1356435 17 73919297 [A/G] NM_001080542 FBF1 EXON Missense_A450V exm1356440 17 73919477 [T/G] NM_001080542 FBF1 EXON Missense_P390H exm1356442 17 73919510 [T/G] NM_001080542 FBF1 EXON Missense_A379E exm1356445 17 73919538 [A/G] NM_001080542 FBF1 EXON Missense_P370S exm1356452 17 73919719 [A/C] NM_001080542 FBF1 EXON Missense_R309S exm1356455 17 73921440 [T/C] NM_001080542 FBF1 EXON Missense_R305Q exm1356456 17 73921443 [T/C] NM_001080542 FBF1 EXON Missense_R304H exm1356464 17 73922212 [A/T] NM_001080542 FBF1 EXON Missense_D242V exm1356466 17 73922221 [A/G] NM_001080542 FBF1 EXON Missense_S239F exm1356477 17 73922941 [T/C] NM_001080542 FBF1 EXON Missense_R151G exm1356488 17 73926086 [T/C] NM_001080542 FBF1 EXON Missense_A77T exm1356489 17 73926121 [A/C] NM_001080542 FBF1 EXON Missense_G65V exm1356494 17 73929118 [A/G] NM_001080542 FBF1 EXON Missense_T28I exm1356495 17 73929161 [A/G] NM_001080542 FBF1 EXON Missense_P14S exm1356529 17 73944496 [A/G] NM_007292,NM_001185039,NM_004035 ACOX1,ACOX1,ACOX1 EXON Missense_R591C,Missense_R553C,Missense_R591C exm1356539 17 73945640 [A/G] NM_007292,NM_001185039,NM_004035 ACOX1,ACOX1,ACOX1 EXON Missense_I507T,Missense_I469T,Missense_I507T exm1356540 17 73945809 [G/C] NM_007292,NM_001185039,NM_004035 ACOX1,ACOX1,ACOX1 EXON Missense_R490G,Missense_R452G,Missense_R490G exm2253221 17 73946866 [T/G] NM_007292,NM_001185039,NM_004035 ACOX1,ACOX1,ACOX1 EXON Synonymous_L429L,Synonymous_L391L,Synonymous_L429L exm1356560 17 73949540 [G/C] NM_007292,NM_001185039,NM_004035 ACOX1,ACOX1,ACOX1 EXON Missense_I312M,Missense_I274M,Missense_I312M exm1356565 17 73949650 [T/C] NM_007292,NM_001185039,NM_004035 ACOX1,ACOX1,ACOX1 EXON Missense_G276R,Missense_G238R,Missense_G276R exm1356567 17 73949680 [T/C] NM_007292,NM_001185039,NM_004035 ACOX1,ACOX1,ACOX1 EXON Missense_V266M,Missense_V228M,Missense_V266M exm1356572 17 73951754 [T/C] NM_007292,NM_001185039,NM_004035 ACOX1,ACOX1,ACOX1 EXON Missense_V223I,Missense_V185I,Missense_V223I exm1356576 17 73951951 [T/C] NM_007292,NM_001185039,NM_004035 ACOX1,ACOX1,ACOX1 EXON Missense_I206V,Missense_I168V,Missense_I206V exm1356579 17 73951993 [T/G] NM_007292,NM_001185039,NM_004035 ACOX1,ACOX1,ACOX1 EXON Missense_Q192K,Missense_Q154K,Missense_Q192K exm1356582 17 73953581 [T/C] NM_007292,NM_001185039,NM_004035 ACOX1,ACOX1,ACOX1 EXON Missense_N166S,Missense_N128S,Missense_N166S exm1356585 17 73953620 [A/G] NM_007292,NM_001185039,NM_004035 ACOX1,ACOX1,ACOX1 EXON Missense_T153I,Missense_T115I,Missense_T153I exm1356622 17 73969706 [T/C] NM_007292,NM_001185039,NM_004035 ACOX1,ACOX1,ACOX1 EXON Missense_G144R,Silent,Silent exm1356623 17 73969707 [A/G] NM_007292,NM_001185039,NM_004035 ACOX1,ACOX1,ACOX1 EXON Synonymous_H143H,Silent,Silent exm1356626 17 73969835 [T/C] NM_007292,NM_001185039,NM_004035 ACOX1,ACOX1,ACOX1 EXON Missense_G101S,Silent,Silent exm1356630 17 73975075 [A/G] NM_007292,NM_001185039,NM_004035 ACOX1,ACOX1,ACOX1 EXON Missense_P27L,Silent,Missense_P27L exm2276542 17 73975139 [A/G] NM_007292,NM_001185039,NM_004035 ACOX1,ACOX1,ACOX1 EXON Missense_R6C,Silent,Missense_R6C exm1356640 17 73987590 [T/G] NM_001113324,NR_037709 TEN1,TEN1-CDK3 EXON Missense_A46S,Silent exm1356662 17 73998028 [A/G] NR_037709,NM_001258 TEN1-CDK3,CDK3 EXON Silent,Missense_V64I exm1356666 17 73998125 [A/G] NR_037709,NM_001258 TEN1-CDK3,CDK3 EXON Silent,Missense_E73K exm1356667 17 73998127 [C/G] NR_037709,NM_001258 TEN1-CDK3,CDK3 EXON Silent,Missense_E73D exm1356670 17 73998377 [T/C] NR_037709,NM_001258 TEN1-CDK3,CDK3 EXON Silent,Missense_R122W exm1356671 17 73998384 [T/C] NR_037709,NM_001258 TEN1-CDK3,CDK3 EXON Silent,Missense_I124T exm1356674 17 73998425 [T/G] NR_037709,NM_001258 TEN1-CDK3,CDK3 EXON Silent,Missense_L138V exm1901926 17 73999282 [T/C] NR_037709,NM_001258 TEN1-CDK3,CDK3 EXON Silent,Nonsense_R199X exm1356687 17 73999328 [A/G] NR_037709,NM_001258 TEN1-CDK3,CDK3 EXON Silent,Missense_R214H exm1356689 17 73999364 [T/C] NR_037709,NM_001258 TEN1-CDK3,CDK3 EXON Silent,Missense_T226I exm1356694 17 73999478 [T/C] NR_037709,NM_001258 TEN1-CDK3,CDK3 EXON Silent,Missense_M264T exm1356703 17 74003204 [T/C] NM_001988 EVPL EXON Missense_V2028I exm1356704 17 74003209 [T/G] NM_001988 EVPL EXON Missense_P2026H exm1356712 17 74003285 [A/G] NM_001988 EVPL EXON Missense_R2001C exm1356715 17 74003317 [T/C] NM_001988 EVPL EXON Missense_R1990Q exm1356716 17 74003318 [A/G] NM_001988 EVPL EXON Missense_R1990W exm1356717 17 74003329 [A/G] NM_001988 EVPL EXON Missense_I1986T exm1901939 17 74003342 [T/A] NM_001988 EVPL EXON Missense_L1982M exm1356737 17 74003525 [T/C] NM_001988 EVPL EXON Missense_V1921I exm1356749 17 74003758 [A/G] NM_001988 EVPL EXON Missense_T1843M exm1356757 17 74003846 [A/G] NM_001988 EVPL EXON Missense_P1814S exm1901947 17 74003981 [T/C] NM_001988 EVPL EXON Missense_G1769S exm1356768 17 74004043 [T/G] NM_001988 EVPL EXON Missense_S1748Y exm1356771 17 74004064 [T/C] NM_001988 EVPL EXON Missense_R1741H exm1356777 17 74004162 [G/C] NM_001988 EVPL EXON Missense_I1708M exm1356787 17 74004307 [T/C] NM_001988 EVPL EXON Missense_R1660Q exm1356791 17 74004347 [A/G] NM_001988 EVPL EXON Missense_R1647C exm1356799 17 74004421 [T/C] NM_001988 EVPL EXON Missense_Q1622R exm1356803 17 74004485 [T/C] NM_001988 EVPL EXON Missense_A1601T exm1356806 17 74004600 [A/C] NM_001988 EVPL EXON Missense_E1562D exm1356813 17 74004671 [C/G] NM_001988 EVPL EXON Missense_V1539L exm2276544 17 74004710 [T/C] NM_001988 EVPL EXON Missense_V1526M exm1356831 17 74004728 [A/G] NM_001988 EVPL EXON Missense_Y1520H exm1356833 17 74004752 [T/C] NM_001988 EVPL EXON Missense_A1512T exm1356838 17 74004817 [A/G] NM_001988 EVPL EXON Missense_T1490I exm1356839 17 74004839 [A/G] NM_001988 EVPL EXON Missense_W1483R exm2253222 17 74004870 [T/C] NM_001988 EVPL EXON Synonymous_P1472P exm1901962 17 74004870 [T/C] NM_001988 EVPL EXON Synonymous_P1472P exm1356841 17 74004928 [A/G] NM_001988 EVPL EXON Missense_P1453L exm1356849 17 74005124 [A/G] NM_001988 EVPL EXON Missense_H1388Y exm1356861 17 74005372 [T/C] NM_001988 EVPL EXON Missense_R1305Q exm1356871 17 74005507 [T/C] NM_001988 EVPL EXON Missense_H1260R exm1356883 17 74005661 [T/C] NM_001988 EVPL EXON Missense_E1209K exm1356887 17 74005700 [T/C] NM_001988 EVPL EXON Missense_V1196I exm1356890 17 74005721 [T/C] NM_001988 EVPL EXON Missense_K1189E exm1356891 17 74005742 [T/C] NM_001988 EVPL EXON Missense_V1182M exm1356897 17 74005802 [T/C] NM_001988 EVPL EXON Missense_E1162K exm1901975 17 74005880 [A/C] NM_001988 EVPL EXON Missense_V1136L exm1356908 17 74005981 [T/C] NM_001988 EVPL EXON Missense_D1102G exm1356919 17 74006189 [T/C] NM_001988 EVPL EXON Missense_A1033T exm1356922 17 74006207 [T/C] NM_001988 EVPL EXON Missense_G1027S exm1356936 17 74006403 [C/G] NM_001988 EVPL EXON Missense_E961D exm1356939 17 74006474 [A/G] NM_001988 EVPL EXON Nonsense_Q938X exm1356941 17 74006498 [A/G] NM_001988 EVPL EXON Missense_R930W exm1356942 17 74006500 [A/G] NM_001988 EVPL EXON Missense_A929V exm1356957 17 74006618 [A/G] NM_001988 EVPL EXON Missense_L890F exm1356962 17 74007673 [T/C] NM_001988 EVPL EXON Missense_R882K exm1356963 17 74007683 [C/G] NM_001988 EVPL EXON Missense_E879Q exm1356968 17 74007865 [C/G] NM_001988 EVPL EXON Missense_S852R exm1356970 17 74007917 [A/G] NM_001988 EVPL EXON Missense_T835I exm1356971 17 74007935 [T/C] NM_001988 EVPL EXON Missense_R829H exm1356976 17 74008163 [A/G] NM_001988 EVPL EXON Missense_T794M exm1356985 17 74010574 [A/G] NM_001988 EVPL EXON Missense_L769P exm1356990 17 74011030 [T/C] NM_001988 EVPL EXON Missense_R730H exm1356999 17 74011145 [C/G] NM_001988 EVPL EXON Missense_L692V exm1357016 17 74011706 [T/G] NM_001988 EVPL EXON Missense_T572P exm1357025 17 74013932 [T/C] NM_001988 EVPL EXON Missense_R533Q exm1357026 17 74013933 [A/G] NM_001988 EVPL EXON Missense_R533W exm1357044 17 74014634 [T/G] NM_001988 EVPL EXON Missense_D444E exm1357047 17 74014669 [A/G] NM_001988 EVPL EXON Nonsense_Q433X exm1357067 17 74015697 [A/G] NM_001988 EVPL EXON Missense_A350V exm1357100 17 74018597 [T/C] NM_001988 EVPL EXON Missense_Y168C exm1357108 17 74019420 [T/C] NM_001988 EVPL EXON Missense_D145N exm1357111 17 74019453 [A/G] NM_001988 EVPL EXON Missense_R134C exm1357136 17 74036544 [T/C] NM_001260502,NM_001260503,NR_048541,NM_014230 SRP68,SRP68,SRP68,SRP68 EXON Missense_A500T,Missense_A199T,Silent,Missense_A538T exm1357145 17 74039930 [T/C] NM_001260502,NM_001260503,NR_048541,NM_014230 SRP68,SRP68,SRP68,SRP68 EXON Missense_A464T,Missense_A163T,Silent,Missense_A502T exm1357147 17 74039945 [T/C] NM_001260502,NM_001260503,NR_048541,NM_014230 SRP68,SRP68,SRP68,SRP68 EXON Missense_N459D,Missense_N158D,Silent,Missense_N497D exm1357149 17 74040014 [T/C] NM_001260502,NM_001260503,NR_048541,NM_014230 SRP68,SRP68,SRP68,SRP68 EXON Missense_V436M,Missense_V135M,Silent,Missense_V474M exm1357153 17 74042169 [A/G] NM_001260502,NM_001260503,NR_048541,NM_014230 SRP68,SRP68,SRP68,SRP68 EXON Missense_R379C,Missense_R78C,Silent,Missense_R417C exm1357167 17 74053501 [T/C] NM_001260502,NR_048541,NM_014230 SRP68,SRP68,SRP68 EXON Missense_E283K,Silent,Missense_E321K exm1357196 17 74063305 [T/C] NM_001260502,NR_048541,NM_014230 SRP68,SRP68,SRP68 EXON Silent,Silent,Missense_D120N exm1357231 17 74071221 [A/G] NM_003857 GALR2 EXON Missense_Y86C exm1357233 17 74071294 [C/G] NM_003857 GALR2 EXON Missense_H110Q exm1357236 17 74072805 [T/C] NM_003857 GALR2 EXON Missense_S153P exm1357238 17 74072826 [T/C] NM_003857 GALR2 EXON Missense_Y160H exm1357240 17 74072893 [T/C] NM_003857 GALR2 EXON Missense_P182L exm1357241 17 74072895 [C/G] NM_003857 GALR2 EXON Missense_R183G exm1357242 17 74072896 [A/G] NM_003857 GALR2 EXON Missense_R183H exm1357245 17 74072931 [A/C] NM_003857 GALR2 EXON Missense_S195R exm1357249 17 74073024 [A/G] NM_003857 GALR2 EXON Missense_G226S exm1357253 17 74073094 [T/G] NM_003857 GALR2 EXON Missense_W249L exm1357255 17 74073137 [T/G] NM_003857 GALR2 EXON Missense_Q263H exm1357267 17 74073386 [C/G] NM_003857 GALR2 EXON Missense_S346R exm1357280 17 74075408 [T/G] NM_180990 ZACN EXON Missense_L21F exm1357281 17 74075425 [T/C] NM_180990 ZACN EXON Missense_F27S exm1357284 17 74075537 [A/G] NM_180990 ZACN EXON Missense_N39D exm1357286 17 74075580 [T/C] NM_180990 ZACN EXON Missense_P53L exm1357294 17 74075646 [T/C] NM_180990 ZACN Silent exm1357296 17 74075792 [T/C] NM_180990 ZACN EXON Nonsense_R78X exm1357298 17 74075984 [T/C] NM_180990 ZACN EXON Missense_R95C exm1902136 17 74076012 [T/C] NM_180990 ZACN EXON Missense_P104L exm1357299 17 74076015 [A/G] NM_180990 ZACN EXON Missense_R105Q exm1357300 17 74076020 [A/G] NM_180990 ZACN EXON Missense_A107T exm1357303 17 74076071 [A/G] NM_180990 ZACN EXON Missense_E124K exm1357313 17 74076415 [A/G] NM_180990 ZACN EXON Missense_A152T exm1357314 17 74076419 [T/C] NM_180990 ZACN EXON Missense_T153M exm1357315 17 74076455 [A/C] NM_180990 ZACN EXON Missense_P165H exm1357316 17 74076467 [A/G] NM_180990 ZACN EXON Missense_S169N exm1357319 17 74076504 [A/G] NM_180990 ZACN EXON Synonymous_T181T exm1357333 17 74077421 [A/G] NM_180990,NM_015219,NM_001145298,NM_001013839,NM_001145299,NM_001145297,NR_028133 ZACN,EXOC7,EXOC7,EXOC7,EXOC7,EXOC7,EXOC7 EXON Missense_V203I,Silent,Silent,Silent,Silent,Silent,Silent exm1357334 17 74077461 [T/C] NM_180990,NM_015219,NM_001145298,NM_001013839,NM_001145299,NM_001145297,NR_028133 ZACN,EXOC7,EXOC7,EXOC7,EXOC7,EXOC7,EXOC7 EXON Missense_L216P,Silent,Silent,Silent,Silent,Silent,Silent exm1357336 17 74077482 [T/C] NM_180990,NM_015219,NM_001145298,NM_001013839,NM_001145299,NM_001145297,NR_028133 ZACN,EXOC7,EXOC7,EXOC7,EXOC7,EXOC7,EXOC7 EXON Missense_T223M,Silent,Silent,Silent,Silent,Silent,Silent exm1357338 17 74077484 [T/G] NM_180990,NM_015219,NM_001145298,NM_001013839,NM_001145299,NM_001145297,NR_028133 ZACN,EXOC7,EXOC7,EXOC7,EXOC7,EXOC7,EXOC7 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent exm1357341 17 74077642 [T/C] NM_180990,NM_015219,NM_001145298,NM_001013839,NM_001145299,NM_001145297,NR_028133 ZACN,EXOC7,EXOC7,EXOC7,EXOC7,EXOC7,EXOC7 EXON Missense_T229M,Silent,Silent,Silent,Silent,Silent,Silent exm1902152 17 74077645 [T/C] NM_180990,NM_015219,NM_001145298,NM_001013839,NM_001145299,NM_001145297,NR_028133 ZACN,EXOC7,EXOC7,EXOC7,EXOC7,EXOC7,EXOC7 EXON Missense_A230V,Silent,Silent,Silent,Silent,Silent,Silent exm1357346 17 74077683 [A/G] NM_180990,NM_015219,NM_001145298,NM_001013839,NM_001145299,NM_001145297,NR_028133 ZACN,EXOC7,EXOC7,EXOC7,EXOC7,EXOC7,EXOC7 EXON Missense_A243T,Silent,Silent,Silent,Silent,Silent,Silent exm1357348 17 74077725 [T/C] NM_180990,NM_015219,NM_001145298,NM_001013839,NM_001145299,NM_001145297,NR_028133 ZACN,EXOC7,EXOC7,EXOC7,EXOC7,EXOC7,EXOC7 EXON Missense_R257W,Silent,Silent,Silent,Silent,Silent,Silent exm1357353 17 74077765 [T/C] NM_180990,NM_015219,NM_001145298,NM_001013839,NM_001145299,NM_001145297,NR_028133 ZACN,EXOC7,EXOC7,EXOC7,EXOC7,EXOC7,EXOC7 EXON Missense_L270P,Silent,Silent,Silent,Silent,Silent,Silent exm1357355 17 74077797 [T/C] NM_180990,NM_015219,NM_001145298,NM_001013839,NM_001145299,NM_001145297,NR_028133 ZACN,EXOC7,EXOC7,EXOC7,EXOC7,EXOC7,EXOC7 EXON Nonsense_Q281X,Silent,Silent,Silent,Silent,Silent,Silent exm1357358 17 74077830 [A/C] NM_180990,NM_015219,NM_001145298,NM_001013839,NM_001145299,NM_001145297,NR_028133 ZACN,EXOC7,EXOC7,EXOC7,EXOC7,EXOC7,EXOC7 EXON Missense_L292M,Silent,Silent,Silent,Silent,Silent,Silent exm1357371 17 74078612 [A/G] NM_180990,NM_015219,NM_001145298,NM_001013839,NM_001145299,NM_001145297,NR_028133 ZACN,EXOC7,EXOC7,EXOC7,EXOC7,EXOC7,EXOC7 EXON Missense_V373M,Silent,Silent,Silent,Silent,Silent,Silent exm1357375 17 74078696 [A/G] NM_180990,NM_015219,NM_001145298,NM_001013839,NM_001145299,NM_001145297,NR_028133 ZACN,EXOC7,EXOC7,EXOC7,EXOC7,EXOC7,EXOC7 EXON Missense_G401R,Silent,Silent,Silent,Silent,Silent,Silent exm1357379 17 74079802 [A/G] NM_015219,NM_001145298,NM_001013839,NM_001145299,NM_001145297,NR_028133 EXOC7,EXOC7,EXOC7,EXOC7,EXOC7,EXOC7 EXON Missense_P630L,Missense_P653L,Missense_P661L,Missense_P684L,Missense_P712L,Silent exm1902169 17 74080153 [T/C] NM_015219,NM_001145298,NM_001013839,NM_001145299,NM_001145297,NR_028133 EXOC7,EXOC7,EXOC7,EXOC7,EXOC7,EXOC7 EXON Missense_Q598R,Missense_Q621R,Missense_Q629R,Missense_Q652R,Missense_Q680R,Silent exm1902190 17 74084639 [A/G] NM_015219,NM_001145298,NM_001013839,NM_001145299,NM_001145297,NR_028133 EXOC7,EXOC7,EXOC7,EXOC7,EXOC7,EXOC7 EXON Missense_T371M,Missense_T394M,Missense_T402M,Missense_T425M,Missense_T453M,Silent exm1357424 17 74084883 [A/T] NM_015219,NM_001145298,NM_001013839,NM_001145299,NM_001145297,NR_028133 EXOC7,EXOC7,EXOC7,EXOC7,EXOC7,EXOC7 EXON Missense_Q359L,Missense_Q382L,Missense_Q390L,Missense_Q413L,Missense_Q441L,Silent exm1357438 17 74085326 [G/C] NM_015219,NM_001145298,NM_001013839,NM_001145299,NM_001145297,NR_028133 EXOC7,EXOC7,EXOC7,EXOC7,EXOC7,EXOC7 EXON Missense_S295T,Missense_S318T,Missense_S326T,Missense_S349T,Missense_S377T,Silent exm2227261 17 74085360 [A/G] NM_015219,NM_001145298,NM_001013839,NM_001145299,NM_001145297,NR_028133 EXOC7,EXOC7,EXOC7,EXOC7,EXOC7,EXOC7 EXON Missense_H284Y,Missense_H307Y,Missense_H315Y,Missense_H338Y,Missense_H366Y,Silent exm1357455 17 74090564 [T/C] NM_015219,NM_001145298,NM_001013839,NM_001145299,NM_001145297,NR_028133 EXOC7,EXOC7,EXOC7,EXOC7,EXOC7,EXOC7 EXON Missense_V247I,Missense_V247I,Missense_V247I,Missense_V247I,Missense_V247I,Silent exm1357459 17 74093912 [A/G] NM_015219,NM_001145298,NM_001013839,NM_001145299,NM_001145297,NR_028133 EXOC7,EXOC7,EXOC7,EXOC7,EXOC7,EXOC7 EXON Missense_I202T,Missense_I202T,Missense_I202T,Missense_I202T,Missense_I202T,Silent exm1357461 17 74093934 [T/C] NM_015219,NM_001145298,NM_001013839,NM_001145299,NM_001145297,NR_028133 EXOC7,EXOC7,EXOC7,EXOC7,EXOC7,EXOC7 EXON Missense_V195M,Missense_V195M,Missense_V195M,Missense_V195M,Missense_V195M,Silent exm1357475 17 74097380 [T/C] NM_015219,NM_001145298,NM_001013839,NM_001145299,NM_001145297,NR_028133 EXOC7,EXOC7,EXOC7,EXOC7,EXOC7,EXOC7 EXON Missense_S130N,Missense_S130N,Missense_S130N,Missense_S130N,Missense_S130N,Silent exm2227262 17 74099471 [C/G] NM_015219,NM_001145298,NM_001013839,NM_001145299,NM_001145297,NR_028133 EXOC7,EXOC7,EXOC7,EXOC7,EXOC7,EXOC7 EXON Missense_E33Q,Missense_E33Q,Missense_E33Q,Missense_E33Q,Missense_E33Q,Silent exm1357499 17 74133615 [A/G] NM_001454 FOXJ1 EXON Missense_S362L exm1357520 17 74134024 [T/G] NM_001454 FOXJ1 EXON Missense_R226S exm1357521 17 74134089 [T/C] NM_001454 FOXJ1 EXON Missense_R204Q exm1357530 17 74136146 [T/C] NM_001454 FOXJ1 EXON Missense_D111N exm1357547 17 74141350 [A/G] NR_040017,NM_052916 RNF157-AS1,RNF157 EXON Silent,Missense_T669M exm1357552 17 74141387 [A/G] NR_040017,NM_052916 RNF157-AS1,RNF157 EXON Silent,Missense_R657W exm1357555 17 74148444 [G/C] NR_040017,NM_052916 RNF157-AS1,RNF157 EXON Silent,Missense_C638S exm1357556 17 74148481 [T/C] NR_040017,NM_052916 RNF157-AS1,RNF157 EXON Silent,Missense_V626M exm1357557 17 74148487 [T/C] NR_040017,NM_052916 RNF157-AS1,RNF157 EXON Silent,Missense_A624T exm1357564 17 74148548 [T/C] NR_040017,NM_052916 RNF157-AS1,RNF157 Silent,Silent exm1357589 17 74154496 [A/G] NM_052916 RNF157 EXON Missense_P464L exm1357592 17 74154522 [A/C] NM_052916 RNF157 EXON Missense_E455D exm1357600 17 74155492 [T/C] NM_052916 RNF157 EXON Missense_V410I exm1357609 17 74155654 [T/A] NM_052916 RNF157 EXON Missense_S356T exm1357620 17 74158641 [T/C] NM_052916 RNF157 EXON Missense_D262N exm1357634 17 74162548 [T/C] NM_052916 RNF157 EXON Missense_G208R exm1357637 17 74162590 [A/G] NM_052916 RNF157 EXON Nonsense_R194X exm1357649 17 74163759 [A/G] NM_052916 RNF157 EXON Missense_T139M exm2253225 17 74163860 [T/C] NM_052916 RNF157 EXON Synonymous_K105K exm1357664 17 74169862 [A/C] NM_052916 RNF157 EXON Missense_A73S exm1357670 17 74208560 [T/C] NM_052916 RNF157 EXON Missense_S31N exm2268022 17 74213775 [A/G] NM_052916 RNF157 Silent exm1357686 17 74266293 [A/C] NM_182565 UBALD2 EXON Missense_T68P exm1357714 17 74271936 [A/G] NM_032134 QRICH2 EXON Missense_P1650S exm1357719 17 74272770 [A/G] NM_032134 QRICH2 EXON Nonsense_R1616X exm1357725 17 74273282 [C/G] NM_032134 QRICH2 EXON Missense_G1577R exm1357726 17 74273284 [T/C] NM_032134 QRICH2 EXON Missense_R1576Q exm1357727 17 74273285 [A/G] NM_032134 QRICH2 EXON Missense_R1576W exm1357730 17 74273308 [T/C] NM_032134 QRICH2 EXON Missense_R1568H exm1357735 17 74274071 [A/G] NM_032134 QRICH2 EXON Missense_R1540W exm1357743 17 74274202 [T/C] NM_032134 QRICH2 EXON Missense_R1496H exm1357744 17 74274208 [T/C] NM_032134 QRICH2 EXON Missense_R1494H exm1357747 17 74274232 [A/G] NM_032134 QRICH2 EXON Missense_A1486V exm1357748 17 74274248 [A/G] NM_032134 QRICH2 EXON Missense_P1481S exm1357749 17 74274271 [T/C] NM_032134 QRICH2 Silent exm1357750 17 74275142 [G/C] NM_032134 QRICH2 EXON Missense_Q1466H exm1357752 17 74275170 [T/C] NM_032134 QRICH2 EXON Missense_R1457H exm1357759 17 74275457 [A/G] NM_032134 QRICH2 EXON Missense_P1435S exm1357766 17 74276157 [A/G] NM_032134 QRICH2 EXON Missense_R1403C exm1357768 17 74276189 [T/C] NM_032134 QRICH2 EXON Missense_R1392Q exm1357784 17 74276788 [T/C] NM_032134 QRICH2 EXON Missense_K1304E exm1357788 17 74276935 [A/G] NM_032134 QRICH2 EXON Missense_R1289W exm1357789 17 74276937 [T/C] NM_032134 QRICH2 EXON Missense_H1288R exm1357798 17 74277983 [T/C] NM_032134 QRICH2 EXON Missense_V1243I exm1357803 17 74278044 [A/C] NM_032134 QRICH2 EXON Missense_H1222Q exm1357812 17 74283330 [G/C] NM_032134 QRICH2 EXON Missense_R1152S exm1357816 17 74283882 [T/C] NM_032134 QRICH2 EXON Missense_R1133G exm1357825 17 74286087 [A/G] NM_032134 QRICH2 EXON Nonsense_Q1096X exm1357827 17 74286095 [T/C] NM_032134 QRICH2 EXON Missense_E1093G exm1357830 17 74286143 [C/G] NM_032134 QRICH2 EXON Missense_P1077R exm1357838 17 74287147 [C/G] NM_032134 QRICH2 EXON Missense_Q1055E exm1357840 17 74287204 [C/G] NM_032134 QRICH2 EXON Missense_E1036Q exm1357846 17 74287320 [T/C] NM_032134 QRICH2 EXON Missense_R997Q exm1357850 17 74287347 [A/C] NM_032134 QRICH2 EXON Missense_L988R exm1357851 17 74287389 [T/C] NM_032134 QRICH2 EXON Missense_H974R exm1357865 17 74287594 [A/G] NM_032134 QRICH2 EXON Missense_H906Y exm1357878 17 74287843 [A/G] NM_032134 QRICH2 EXON Missense_R823C exm1357883 17 74288067 [A/G] NM_032134 QRICH2 EXON Missense_P748L exm1357884 17 74288088 [T/C] NM_032134 QRICH2 EXON Missense_G741D exm1357885 17 74288114 [G/C] NM_032134 QRICH2 EXON Missense_Q732H exm1357889 17 74288143 [A/G] NM_032134 QRICH2 EXON Missense_R723C exm1357918 17 74288410 [T/C] NM_032134 QRICH2 EXON Missense_G634S exm1357922 17 74288422 [T/C] NM_032134 QRICH2 EXON Missense_I630V exm1357931 17 74288520 [T/G] NM_032134 QRICH2 EXON Missense_Q597P exm1357944 17 74288596 [A/G] NM_032134 QRICH2 EXON Missense_R572C exm1357963 17 74288853 [T/G] NM_032134 QRICH2 EXON Missense_Q486P exm1357983 17 74289249 [A/G] NM_032134 QRICH2 EXON Missense_V354A exm1357985 17 74289301 [A/G] NM_032134 QRICH2 EXON Nonsense_Q337X exm1902377 17 74289369 [A/G] NM_032134 QRICH2 EXON Missense_T314I exm1357994 17 74289519 [T/C] NM_032134 QRICH2 EXON Missense_R264Q exm1358001 17 74289642 [T/C] NM_032134 QRICH2 EXON Missense_R223H exm1358002 17 74289648 [A/G] NM_032134 QRICH2 EXON Missense_P221L exm1358005 17 74289705 [A/G] NM_032134 QRICH2 EXON Missense_L202S exm2227273 17 74289735 [T/C] NM_032134 QRICH2 EXON Missense_R192H exm1358011 17 74289786 [T/C] NM_032134 QRICH2 EXON Missense_R175H exm1358012 17 74289795 [T/C] NM_032134 QRICH2 EXON Missense_D172G exm1358014 17 74289840 [A/C] NM_032134 QRICH2 EXON Missense_G157V exm1358022 17 74290008 [T/G] NM_032134 QRICH2 EXON Missense_P101Q exm1358027 17 74300497 [A/G] NM_032134 QRICH2 EXON Missense_A69V exm1358031 17 74300534 [T/C] NM_032134 QRICH2 EXON Missense_E57K exm1358054 17 74308961 [T/G] NM_002766 PRPSAP1 EXON Missense_S330Y exm1902391 17 74309955 [A/T] NM_002766 PRPSAP1 EXON Nonsense_K267X exm1358074 17 74324920 [A/G] NM_002766 PRPSAP1 EXON Missense_L220P exm1358092 17 74349778 [T/C] NM_002766 PRPSAP1 EXON Missense_K3E exm1358102 17 74381555 [A/G] NM_001142601,NM_021972,NM_182965,NM_001142602 SPHK1,SPHK1,SPHK1,SPHK1 EXON Silent,Silent,Missense_A30T,Silent exm1358103 17 74381562 [A/C] NM_001142601,NM_021972,NM_182965,NM_001142602 SPHK1,SPHK1,SPHK1,SPHK1 EXON Silent,Silent,Missense_A32D,Silent exm1358104 17 74381567 [A/G] NM_001142601,NM_021972,NM_182965,NM_001142602 SPHK1,SPHK1,SPHK1,SPHK1 EXON Silent,Silent,Missense_A34T,Silent exm1358106 17 74381706 [C/G] NM_001142601,NM_021972,NM_182965,NM_001142602 SPHK1,SPHK1,SPHK1,SPHK1 EXON Silent,Silent,Missense_R80P,Silent exm1358116 17 74382198 [T/C] NM_001142601,NM_021972,NM_182965,NM_001142602 SPHK1,SPHK1,SPHK1,SPHK1 EXON Missense_S48F,Missense_S62F,Missense_S134F,Missense_S48F exm2253230 17 74382199 [T/C] NM_001142601,NM_021972,NM_182965,NM_001142602 SPHK1,SPHK1,SPHK1,SPHK1 EXON Synonymous_S48S,Synonymous_S62S,Synonymous_S134S,Synonymous_S48S exm2253231 17 74382312 [T/C] NM_001142601,NM_021972,NM_182965,NM_001142602 SPHK1,SPHK1,SPHK1,SPHK1 EXON Synonymous_N58N,Synonymous_N72N,Synonymous_N144N,Synonymous_N58N exm1358126 17 74382590 [A/G] NM_001142601,NM_021972,NM_182965,NM_001142602 SPHK1,SPHK1,SPHK1,SPHK1 Silent,Silent,Silent,Silent exm1358153 17 74383348 [A/G] NM_001142601,NM_021972,NM_182965,NM_001142602 SPHK1,SPHK1,SPHK1,SPHK1 EXON Missense_R279H,Missense_R293H,Missense_R365H,Missense_R279H exm1358164 17 74383461 [T/C] NM_001142601,NM_021972,NM_182965,NM_001142602 SPHK1,SPHK1,SPHK1,SPHK1 EXON Missense_P317S,Missense_P331S,Missense_P403S,Missense_P317S exm1358169 17 74383509 [A/G] NM_001142601,NM_021972,NM_182965,NM_001142602 SPHK1,SPHK1,SPHK1,SPHK1 EXON Missense_D333N,Missense_D347N,Missense_D419N,Missense_D333N exm1358178 17 74383644 [T/C] NM_001142601,NM_021972,NM_182965,NM_001142602 SPHK1,SPHK1,SPHK1,SPHK1 EXON Missense_P378S,Missense_P392S,Missense_P464S,Missense_P378S exm1358179 17 74383648 [T/C] NM_001142601,NM_021972,NM_182965,NM_001142602 SPHK1,SPHK1,SPHK1,SPHK1 EXON Missense_P379L,Missense_P393L,Missense_P465L,Missense_P379L exm1358192 17 74387150 [T/G] NM_022066 UBE2O EXON Nonsense_Y1251X exm1358196 17 74387236 [T/C] NM_022066 UBE2O EXON Missense_A1223T exm1358199 17 74387284 [T/C] NM_022066 UBE2O EXON Missense_G1207S exm1358209 17 74387455 [T/C] NM_022066 UBE2O EXON Missense_A1150T exm1358211 17 74387485 [T/C] NM_022066 UBE2O EXON Missense_N1140D exm1358216 17 74387554 [A/G] NM_022066 UBE2O EXON Missense_R1117W exm1358218 17 74387566 [T/A] NM_022066 UBE2O EXON Missense_T1113S exm1358232 17 74391942 [A/G] NM_022066 UBE2O EXON Missense_S937L exm1358245 17 74392409 [T/C] NM_022066 UBE2O EXON Missense_N870S exm1358271 17 74394353 [A/G] NM_022066 UBE2O EXON Missense_P670S exm1358272 17 74394374 [T/C] NM_022066 UBE2O EXON Missense_G663S exm1358286 17 74395623 [T/C] NM_022066 UBE2O EXON Missense_R512H exm1358287 17 74395624 [A/G] NM_022066 UBE2O EXON Missense_R512C exm1358300 17 74395936 [A/G] NM_022066 UBE2O EXON Missense_R408W exm1358326 17 74398780 [A/G] NM_022066 UBE2O EXON Missense_P197S exm1358358 17 74464865 [T/G] NM_001166579,NM_001088 AANAT,AANAT EXON Missense_A58S,Missense_A13S exm1358362 17 74464914 [A/G] NM_001166579,NM_001088 AANAT,AANAT EXON Missense_R74H,Missense_R29H exm1358363 17 74464920 [T/C] NM_001166579,NM_001088 AANAT,AANAT EXON Missense_T76I,Missense_T31I exm1358374 17 74465275 [A/G] NM_001166579,NM_001088 AANAT,AANAT EXON Missense_V107I,Missense_V62I exm1358380 17 74465352 [T/G] NM_001166579,NM_001088 AANAT,AANAT EXON Missense_E132D,Missense_E87D exm1358381 17 74465757 [T/C] NM_001166579,NM_001088 AANAT,AANAT EXON Missense_T155M,Missense_T110M exm1358387 17 74465811 [A/G] NM_001166579,NM_001088 AANAT,AANAT EXON Missense_R173H,Missense_R128H exm1358402 17 74465916 [T/C] NM_001166579,NM_001088 AANAT,AANAT EXON Missense_A208V,Missense_A163V exm1358403 17 74465922 [T/C] NM_001166579,NM_001088 AANAT,AANAT EXON Missense_V210A,Missense_V165A exm1358418 17 74467762 [T/G] NM_024599,NM_001005498 RHBDF2,RHBDF2 EXON Missense_T842P,Missense_T813P exm1358430 17 74468005 [A/T] NM_024599,NM_001005498 RHBDF2,RHBDF2 EXON Missense_I761F,Missense_I732F exm1358431 17 74468033 [T/G] NM_024599,NM_001005498 RHBDF2,RHBDF2 EXON Missense_N751K,Missense_N722K exm1358458 17 74469757 [T/C] NM_024599,NM_001005498 RHBDF2,RHBDF2 EXON Missense_R598H,Missense_R569H exm1358460 17 74469779 [T/C] NM_024599,NM_001005498 RHBDF2,RHBDF2 EXON Missense_M591V,Missense_M562V exm1358472 17 74470148 [T/C] NM_024599,NM_001005498 RHBDF2,RHBDF2 EXON Missense_R543Q,Missense_R514Q exm1358473 17 74470158 [T/C] NM_024599,NM_001005498 RHBDF2,RHBDF2 EXON Missense_G540S,Missense_G511S exm1358477 17 74470203 [T/C] NM_024599,NM_001005498 RHBDF2,RHBDF2 EXON Missense_K525E,Missense_K496E exm1358480 17 74470523 [A/G] NM_024599,NM_001005498 RHBDF2,RHBDF2 EXON Missense_R495W,Missense_R466W exm1358495 17 74471150 [T/C] NM_024599,NM_001005498 RHBDF2,RHBDF2 EXON Missense_A426T,Missense_A397T exm1358504 17 74473023 [T/C] NM_024599,NM_001005498 RHBDF2,RHBDF2 EXON Missense_R364Q,Missense_R335Q exm1358505 17 74473032 [A/G] NM_024599,NM_001005498 RHBDF2,RHBDF2 EXON Missense_A361V,Missense_A332V exm1358509 17 74473071 [T/C] NM_024599,NM_001005498 RHBDF2,RHBDF2 EXON Missense_R348Q,Missense_R319Q exm1358511 17 74473078 [T/C] NM_024599,NM_001005498 RHBDF2,RHBDF2 EXON Missense_G346R,Missense_G317R exm1358519 17 74473329 [T/C] NM_024599,NM_001005498 RHBDF2,RHBDF2 EXON Missense_A314T,Missense_A285T exm1358531 17 74473836 [T/C] NM_024599,NM_001005498 RHBDF2,RHBDF2 EXON Missense_R264Q,Missense_R235Q exm1358534 17 74473860 [A/G] NM_024599,NM_001005498 RHBDF2,RHBDF2 EXON Missense_S256L,Missense_S227L exm1358537 17 74474902 [T/C] NM_024599,NM_001005498 RHBDF2,RHBDF2 EXON Missense_A249T,Missense_A220T exm1358543 17 74474947 [A/G] NM_024599,NM_001005498 RHBDF2,RHBDF2 EXON Missense_R234C,Missense_R205C exm1358558 17 74475240 [T/C] NM_024599,NM_001005498 RHBDF2,RHBDF2 EXON Missense_R160H,Missense_R131H exm1358563 17 74475318 [T/C] NM_024599,NM_001005498 RHBDF2,RHBDF2 EXON Missense_G134E,Missense_G105E exm1358566 17 74475355 [T/C] NM_024599,NM_001005498 RHBDF2,RHBDF2 EXON Missense_A122T,Missense_A93T exm1358582 17 74475935 [G/C] NM_024599,NM_001005498 RHBDF2,RHBDF2 EXON Missense_R80T,Missense_R51T exm1358595 17 74477582 [T/C] NM_024599,NM_001005498 RHBDF2,RHBDF2 EXON Missense_G9R,Missense_G9R exm1358614 17 74527606 [C/G] NM_134268,NR_033357 CYGB,PRCD EXON Missense_S104C,Silent exm1358676 17 74562292 [T/C] NM_006456 ST6GALNAC2 EXON Missense_R340Q exm1358685 17 74563621 [T/G] NM_006456 ST6GALNAC2 EXON Missense_K291Q exm1358693 17 74564841 [T/C] NM_006456 ST6GALNAC2 EXON Missense_K271E exm1358694 17 74564871 [T/C] NM_006456 ST6GALNAC2 EXON Missense_A261T exm1358701 17 74568733 [T/C] NM_006456 ST6GALNAC2 EXON Missense_V219M exm1358702 17 74568763 [T/C] NM_006456 ST6GALNAC2 EXON Missense_V209I exm1358706 17 74568813 [A/G] NM_006456 ST6GALNAC2 EXON Missense_T192I exm1358708 17 74568825 [T/C] NM_006456 ST6GALNAC2 EXON Missense_R188H exm1358710 17 74569275 [A/G] NM_006456 ST6GALNAC2 Silent exm1358711 17 74569317 [T/G] NM_006456 ST6GALNAC2 EXON Missense_R164S exm2227287 17 74570452 [T/A] NM_006456 ST6GALNAC2 EXON Missense_H119L exm1358733 17 74570498 [A/G] NM_006456 ST6GALNAC2 EXON Missense_R104C exm1358735 17 74570509 [A/G] NM_006456 ST6GALNAC2 EXON Missense_A100V exm1358739 17 74570572 [T/C] NM_006456 ST6GALNAC2 EXON Missense_H79R exm1902625 17 74574836 [A/G] NM_006456 ST6GALNAC2 Silent exm1358746 17 74581880 [A/G] NM_006456 ST6GALNAC2 EXON Missense_P4L exm1358753 17 74621447 [T/G] NM_018414 ST6GALNAC1 EXON Missense_R590S exm1358754 17 74621459 [A/G] NM_018414 ST6GALNAC1 EXON Missense_R586W exm1358758 17 74621507 [A/T] NM_018414 ST6GALNAC1 EXON Nonsense_K570X exm1902637 17 74621573 [A/G] NM_018414 ST6GALNAC1 EXON Missense_R548C exm1358765 17 74621609 [T/C] NM_018414 ST6GALNAC1 EXON Missense_V536M exm1902641 17 74622086 [A/G] NM_018414 ST6GALNAC1 Silent exm1358779 17 74622747 [T/C] NM_018414 ST6GALNAC1 EXON Missense_V433M exm1358780 17 74622774 [T/C] NM_018414 ST6GALNAC1 EXON Missense_I424V exm1358794 17 74623273 [T/G] NM_018414 ST6GALNAC1 EXON Missense_L350M exm1358796 17 74623306 [T/C] NM_018414 ST6GALNAC1 EXON Missense_V339M exm1358800 17 74623547 [T/C] NM_018414 ST6GALNAC1 EXON Missense_R317H exm1358813 17 74625305 [A/G] NM_018414 ST6GALNAC1 EXON Missense_T207I exm1358814 17 74625306 [T/G] NM_018414 ST6GALNAC1 EXON Missense_T207P exm1358817 17 74625342 [A/G] NM_018414 ST6GALNAC1 EXON Missense_L195F exm1358822 17 74625434 [T/G] NM_018414 ST6GALNAC1 EXON Missense_T164N exm1358840 17 74625725 [A/G] NM_018414 ST6GALNAC1 EXON Missense_P67L exm1358844 17 74639623 [A/G] NM_018414 ST6GALNAC1 EXON Missense_S33F exm1358853 17 74673702 [T/C] NM_001008528 MXRA7 EXON Missense_V195M exm1358854 17 74673703 [T/G] NM_001008528 MXRA7 EXON Missense_D194E exm1358864 17 74673774 [T/C] NM_001008528 MXRA7 EXON Missense_E171K exm1358871 17 74681190 [T/A] NM_001008528,NM_198530,NM_001008529 MXRA7,MXRA7,MXRA7 EXON Missense_K155M,Missense_K155M,Missense_K155M exm1358877 17 74684195 [T/C] NM_001008528,NM_198530,NM_001008529 MXRA7,MXRA7,MXRA7 EXON Missense_G136R,Missense_G136R,Missense_G136R exm1358878 17 74684196 [A/G] NM_001008528,NM_198530,NM_001008529 MXRA7,MXRA7,MXRA7 EXON Synonymous_D135D,Synonymous_D135D,Synonymous_D135D exm1358881 17 74684260 [T/C] NM_001008528,NM_198530,NM_001008529 MXRA7,MXRA7,MXRA7 Silent,Silent,Silent exm-IND17-72195910 17 74684316 [D/I] NM_001008528,NM_198530,NM_001008529 MXRA7,MXRA7,MXRA7 exm1358931 17 74722514 [T/C] NM_001081461,NM_015167 JMJD6,JMJD6 EXON Missense_S15N,Missense_S15N exm1358937 17 74725812 [T/C] NM_001206987,NM_001206984,NR_038193,NM_001080510,NM_001206986,NM_001206985,NM_001206983 METTL23,METTL23,METTL23,METTL23,METTL23,METTL23,METTL23 EXON Silent,Missense_A7V,Silent,Missense_A7V,Silent,Silent,Missense_A7V exm1358951 17 74729400 [A/G] NM_001206987,NM_001206984,NR_038193,NM_001080510,NM_001206986,NM_001206985,NM_001206983 METTL23,METTL23,METTL23,METTL23,METTL23,METTL23,METTL23 EXON Missense_I49M,Missense_I116M,Silent,Missense_I116M,Missense_I49M,Missense_I49M,Missense_I116M exm2253235 17 74729434 [T/C] NM_001206987,NM_001206984,NR_038193,NM_001080510,NM_001206986,NM_001206985,NM_001206983 METTL23,METTL23,METTL23,METTL23,METTL23,METTL23,METTL23 EXON Synonymous_L61L,Synonymous_L128L,Silent,Synonymous_L128L,Synonymous_L61L,Synonymous_L61L,Synonymous_L128L exm1358961 17 74729691 [A/G] NM_001206987,NM_001206984,NR_038193,NM_001080510,NM_001206986,NM_001206985,NM_001206983 METTL23,METTL23,METTL23,METTL23,METTL23,METTL23,METTL23 EXON Missense_D99N,Missense_D166N,Silent,Missense_D166N,Missense_D99N,Missense_D99N,Missense_D166N exm1358964 17 74729764 [T/C] NM_001206987,NM_001206984,NR_038193,NM_001080510,NM_001206986,NM_001206985,NM_001206983 METTL23,METTL23,METTL23,METTL23,METTL23,METTL23,METTL23 EXON Missense_L123P,Missense_L190P,Silent,Missense_L190P,Missense_L123P,Missense_L123P,Missense_L190P exm1358971 17 74732352 [A/C] NM_003016,NR_036608,NM_001195427 SRSF2,SRSF2,SRSF2 EXON Missense_R186L,Silent,Missense_R186L exm2253236 17 74733075 [A/G] NM_003016,NR_036608,NM_001195427,NM_001242534 SRSF2,SRSF2,SRSF2,MFSD11 EXON Synonymous_G56G,Silent,Synonymous_G56G,Silent exm1358999 17 74735034 [A/G] NM_001242534,NM_001242535,NM_001242536,NM_001242537,NM_024311,NM_001242533,NM_001242532 MFSD11,MFSD11,MFSD11,MFSD11,MFSD11,MFSD11,MFSD11 EXON Synonymous_R37R,Synonymous_R37R,Synonymous_R37R,Synonymous_R37R,Synonymous_R37R,Synonymous_R37R,Synonymous_R37R exm1359003 17 74737119 [A/C] NM_001242534,NM_001242535,NM_001242536,NM_001242537,NM_024311,NM_001242533,NM_001242532 MFSD11,MFSD11,MFSD11,MFSD11,MFSD11,MFSD11,MFSD11 EXON Missense_S78Y,Missense_S78Y,Missense_S78Y,Missense_S78Y,Missense_S78Y,Missense_S78Y,Missense_S78Y exm1359012 17 74738298 [T/C] NM_001242534,NM_001242535,NM_001242536,NM_001242537,NM_024311,NM_001242533,NM_001242532 MFSD11,MFSD11,MFSD11,MFSD11,MFSD11,MFSD11,MFSD11 EXON Missense_S127L,Missense_S127L,Silent,Silent,Missense_S127L,Missense_S127L,Missense_S127L exm1359020 17 74740437 [T/C] NM_001242534,NM_001242535,NM_001242536,NM_001242537,NM_024311,NM_001242533,NM_001242532 MFSD11,MFSD11,MFSD11,MFSD11,MFSD11,MFSD11,MFSD11 EXON Missense_T177M,Missense_T177M,Missense_T125M,Missense_T125M,Missense_T177M,Missense_T177M,Missense_T177M exm1359022 17 74740465 [A/G] NM_001242534,NM_001242535,NM_001242536,NM_001242537,NM_024311,NM_001242533,NM_001242532 MFSD11,MFSD11,MFSD11,MFSD11,MFSD11,MFSD11,MFSD11 EXON Synonymous_L186L,Synonymous_L186L,Synonymous_L134L,Synonymous_L134L,Synonymous_L186L,Synonymous_L186L,Synonymous_L186L exm1359051 17 74774409 [A/G] NM_001242534,NM_001242535,NM_001242536,NM_001242537,NM_024311,NM_001242533,NM_001242532 MFSD11,MFSD11,MFSD11,MFSD11,MFSD11,MFSD11,MFSD11 EXON Missense_R442H,Missense_R442H,Missense_R390H,Missense_R390H,Missense_R442H,Missense_R442H,Missense_R442H exm1359052 17 74774410 [T/C] NM_001242534,NM_001242535,NM_001242536,NM_001242537,NM_024311,NM_001242533,NM_001242532 MFSD11,MFSD11,MFSD11,MFSD11,MFSD11,MFSD11,MFSD11 EXON Synonymous_R442R,Synonymous_R442R,Synonymous_R390R,Synonymous_R390R,Synonymous_R442R,Synonymous_R442R,Synonymous_R442R exm1359066 17 74868836 [A/G] NM_001199172,NM_144677,NM_198955 MGAT5B,MGAT5B,MGAT5B EXON Silent,Silent,Missense_H2R exm1359067 17 74868887 [T/C] NM_001199172,NM_144677,NM_198955 MGAT5B,MGAT5B,MGAT5B EXON Silent,Silent,Missense_T19M exm1359079 17 74878259 [A/G] NM_001199172,NM_144677,NM_198955 MGAT5B,MGAT5B,MGAT5B EXON Missense_V70I,Missense_V70I,Missense_V81I exm2253238 17 74878361 [T/C] NM_001199172,NM_144677,NM_198955 MGAT5B,MGAT5B,MGAT5B EXON Synonymous_L104L,Synonymous_L104L,Synonymous_L115L exm1359090 17 74878373 [A/G] NM_001199172,NM_144677,NM_198955 MGAT5B,MGAT5B,MGAT5B EXON Missense_A108T,Missense_A108T,Missense_A119T exm1359099 17 74898653 [A/G] NM_001199172,NM_144677,NM_198955 MGAT5B,MGAT5B,MGAT5B EXON Missense_G116S,Missense_G116S,Missense_G127S exm1359101 17 74898683 [G/C] NM_001199172,NM_144677,NM_198955 MGAT5B,MGAT5B,MGAT5B EXON Missense_Q126E,Missense_Q126E,Missense_Q137E exm1359105 17 74899399 [T/C] NM_001199172,NM_144677,NM_198955 MGAT5B,MGAT5B,MGAT5B EXON Missense_R154W,Missense_R154W,Missense_R165W exm1359130 17 74902154 [T/C] NM_001199172,NM_144677,NM_198955 MGAT5B,MGAT5B,MGAT5B EXON Missense_R304W,Missense_R304W,Missense_R315W exm1359147 17 74921071 [A/G] NM_001199172,NM_144677,NM_198955 MGAT5B,MGAT5B,MGAT5B EXON Missense_R350Q,Missense_R350Q,Missense_R361Q exm1359159 17 74922731 [A/G] NM_001199172,NM_144677,NM_198955 MGAT5B,MGAT5B,MGAT5B EXON Missense_E404K,Missense_E404K,Missense_E415K exm1359160 17 74922744 [T/C] NM_001199172,NM_144677,NM_198955 MGAT5B,MGAT5B,MGAT5B EXON Missense_T408M,Missense_T408M,Missense_T419M exm2272558 17 74932934 [T/G] NM_001199172,NM_144677,NM_198955 MGAT5B,MGAT5B,MGAT5B Silent,Silent,Silent exm2253239 17 74936537 [T/C] NM_001199172,NM_144677,NM_198955 MGAT5B,MGAT5B,MGAT5B EXON Synonymous_I546I,Synonymous_I544I,Synonymous_I555I exm1359196 17 74936874 [A/G] NM_001199172,NM_144677,NM_198955 MGAT5B,MGAT5B,MGAT5B EXON Missense_D598N,Missense_D596N,Missense_D607N exm1359199 17 74942491 [A/G] NM_001199172,NM_144677,NM_198955 MGAT5B,MGAT5B,MGAT5B EXON Missense_E628K,Missense_E626K,Missense_E637K exm1359200 17 74942512 [T/C] NM_001199172,NM_144677,NM_198955 MGAT5B,MGAT5B,MGAT5B EXON Missense_H635Y,Missense_H633Y,Missense_H644Y exm1359208 17 74944023 [A/G] NM_001199172,NM_144677,NM_198955 MGAT5B,MGAT5B,MGAT5B EXON Missense_A679T,Missense_A677T,Missense_A688T exm2272559 17 75038439 [T/G] exm1359244 17 75186930 [A/G] NM_001204408,NM_001204410,NM_001039573,NM_003003,NM_001143999,NM_001143998,NM_001144001 SEC14L1,SEC14L1,SEC14L1,SEC14L1,SEC14L1,SEC14L1,SEC14L1 EXON Missense_V37M,Missense_V37M,Missense_V37M,Missense_V37M,Missense_V37M,Missense_V37M,Missense_V3M exm2253242 17 75186962 [T/C] NM_001204408,NM_001204410,NM_001039573,NM_003003,NM_001143999,NM_001143998,NM_001144001 SEC14L1,SEC14L1,SEC14L1,SEC14L1,SEC14L1,SEC14L1,SEC14L1 EXON Synonymous_S47S,Synonymous_S47S,Synonymous_S47S,Synonymous_S47S,Synonymous_S47S,Synonymous_S47S,Synonymous_S13S exm1359253 17 75187371 [A/G] NM_001204408,NM_001204410,NM_001039573,NM_003003,NM_001143999,NM_001143998,NM_001144001 SEC14L1,SEC14L1,SEC14L1,SEC14L1,SEC14L1,SEC14L1,SEC14L1 EXON Missense_I108V,Missense_I108V,Missense_I108V,Missense_I108V,Missense_I108V,Missense_I108V,Missense_I74V exm1359265 17 75190846 [A/C] NM_001204408,NM_001204410,NM_001039573,NM_003003,NM_001143999,NM_001143998,NM_001144001 SEC14L1,SEC14L1,SEC14L1,SEC14L1,SEC14L1,SEC14L1,SEC14L1 EXON Missense_T188P,Missense_T188P,Missense_T188P,Missense_T188P,Missense_T188P,Missense_T188P,Missense_T154P exm1359270 17 75190921 [T/C] NM_001204408,NM_001204410,NM_001039573,NM_003003,NM_001143999,NM_001143998,NM_001144001 SEC14L1,SEC14L1,SEC14L1,SEC14L1,SEC14L1,SEC14L1,SEC14L1 EXON Missense_L213F,Missense_L213F,Missense_L213F,Missense_L213F,Missense_L213F,Missense_L213F,Missense_L179F exm1359306 17 75202903 [A/G] NM_001204408,NM_001204410,NM_001039573,NM_003003,NM_001143999,NM_001143998,NM_001144001 SEC14L1,SEC14L1,SEC14L1,SEC14L1,SEC14L1,SEC14L1,SEC14L1 EXON Missense_D479N,Missense_D479N,Missense_D479N,Missense_D479N,Missense_D479N,Missense_D479N,Missense_D445N exm1359313 17 75205547 [T/G] NM_001204408,NM_001204410,NM_001039573,NM_003003,NM_001143999,NM_001143998,NM_001144001 SEC14L1,SEC14L1,SEC14L1,SEC14L1,SEC14L1,SEC14L1,SEC14L1 EXON Missense_A534S,Missense_A534S,Missense_A534S,Missense_A534S,Missense_A534S,Missense_A534S,Missense_A500S exm1359323 17 75208179 [T/C] NM_001204408,NM_001204410,NM_001039573,NM_003003,NM_001143999,NM_001143998,NM_001144001 SEC14L1,SEC14L1,SEC14L1,SEC14L1,SEC14L1,SEC14L1,SEC14L1 EXON Missense_P587S,Missense_P587S,Missense_P587S,Missense_P587S,Missense_P587S,Missense_P587S,Missense_P553S exm1359324 17 75208180 [T/C] NM_001204408,NM_001204410,NM_001039573,NM_003003,NM_001143999,NM_001143998,NM_001144001 SEC14L1,SEC14L1,SEC14L1,SEC14L1,SEC14L1,SEC14L1,SEC14L1 EXON Missense_P587L,Missense_P587L,Missense_P587L,Missense_P587L,Missense_P587L,Missense_P587L,Missense_P553L exm1359336 17 75209418 [T/C] NM_001204408,NM_001204410,NM_001039573,NM_003003,NM_001143999,NM_001143998,NM_001144001 SEC14L1,SEC14L1,SEC14L1,SEC14L1,SEC14L1,SEC14L1,SEC14L1 EXON Missense_P629L,Missense_P629L,Missense_P629L,Missense_P629L,Missense_P629L,Missense_P629L,Missense_P595L exm1359338 17 75209480 [T/C] NM_001204408,NM_001204410,NM_001039573,NM_003003,NM_001143999,NM_001143998,NM_001144001 SEC14L1,SEC14L1,SEC14L1,SEC14L1,SEC14L1,SEC14L1,SEC14L1 EXON Missense_P650S,Missense_P650S,Missense_P650S,Missense_P650S,Missense_P650S,Missense_P650S,Missense_P616S exm-rs3744064 17 75211208 [T/C] NM_001204408,NM_001204410,NM_001039573,NM_003003,NM_001143999,NM_001143998,NM_001144001 SEC14L1,SEC14L1,SEC14L1,SEC14L1,SEC14L1,SEC14L1,SEC14L1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent exm1359366 17 75303231 [T/C] NM_001113491,NM_001113492 SEPT9,SEPT9 EXON Missense_R10W,Silent exm1359375 17 75316422 [A/G] NM_001113491,NM_001113492,NM_006640 SEPT9,SEPT9,SEPT9 EXON Silent,Silent,Missense_R5Q exm1359390 17 75398290 [T/C] NM_001113491,NM_001113492,NM_006640,NM_001113493,NM_001113494 SEPT9,SEPT9,SEPT9,SEPT9,SEPT9 EXON Missense_R76C,Silent,Missense_R58C,Missense_R69C,Silent exm1359398 17 75398417 [A/C] NM_001113491,NM_001113492,NM_006640,NM_001113493,NM_001113494 SEPT9,SEPT9,SEPT9,SEPT9,SEPT9 EXON Missense_Q118P,Silent,Missense_Q100P,Missense_Q111P,Silent exm1359399 17 75398418 [C/G] NM_001113491,NM_001113492,NM_006640,NM_001113493,NM_001113494 SEPT9,SEPT9,SEPT9,SEPT9,SEPT9 EXON Missense_Q118H,Silent,Missense_Q100H,Missense_Q111H,Silent exm1359403 17 75398449 [T/C] NM_001113491,NM_001113492,NM_006640,NM_001113493,NM_001113494 SEPT9,SEPT9,SEPT9,SEPT9,SEPT9 EXON Missense_R129W,Silent,Missense_R111W,Missense_R122W,Silent exm1359415 17 75398657 [T/C] NM_001113491,NM_001113492,NM_006640,NM_001113493,NM_001113494 SEPT9,SEPT9,SEPT9,SEPT9,SEPT9 EXON Missense_A198V,Missense_A34V,Missense_A180V,Missense_A191V,Missense_A34V exm2264648 17 75423198 [A/C] NM_001113491,NM_001113492,NM_006640,NM_001113493,NM_001113494 SEPT9,SEPT9,SEPT9,SEPT9,SEPT9 Silent,Silent,Silent,Silent,Silent exm1359438 17 75471637 [A/G] NM_001113491,NM_001113492,NM_006640,NM_001113493,NM_001113494,NM_001113496,NM_001113495 SEPT9,SEPT9,SEPT9,SEPT9,SEPT9,SEPT9,SEPT9 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_V13I exm1359446 17 75471802 [G/C] NM_001113491,NM_001113492,NM_006640,NM_001113493,NM_001113494,NM_001113496,NM_001113495 SEPT9,SEPT9,SEPT9,SEPT9,SEPT9,SEPT9,SEPT9 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_G68R exm1359467 17 75478416 [T/C] NM_001113491,NM_001113492,NM_006640,NM_001113493,NM_001113494,NM_001113496,NM_001113495 SEPT9,SEPT9,SEPT9,SEPT9,SEPT9,SEPT9,SEPT9 EXON Synonymous_V304V,Synonymous_V140V,Synonymous_V286V,Synonymous_V297V,Synonymous_V140V,Synonymous_V53V,Synonymous_V192V exm1359476 17 75483633 [T/C] NM_001113491,NM_001113492,NM_006640,NM_001113493,NM_001113494,NM_001113496,NM_001113495 SEPT9,SEPT9,SEPT9,SEPT9,SEPT9,SEPT9,SEPT9 EXON Synonymous_H347H,Synonymous_H183H,Synonymous_H329H,Synonymous_H340H,Synonymous_H183H,Synonymous_H96H,Synonymous_H235H exm1359477 17 75483634 [A/G] NM_001113491,NM_001113492,NM_006640,NM_001113493,NM_001113494,NM_001113496,NM_001113495 SEPT9,SEPT9,SEPT9,SEPT9,SEPT9,SEPT9,SEPT9 EXON Missense_D348N,Missense_D184N,Missense_D330N,Missense_D341N,Missense_D184N,Missense_D97N,Missense_D236N exm1359481 17 75484342 [T/C] NM_001113491,NM_001113492,NM_006640,NM_001113493,NM_001113494,NM_001113496,NM_001113495 SEPT9,SEPT9,SEPT9,SEPT9,SEPT9,SEPT9,SEPT9 EXON Missense_R355W,Missense_R191W,Missense_R337W,Missense_R348W,Missense_R191W,Missense_R104W,Missense_R243W exm1903122 17 75488774 [C/G] NM_001113491,NM_001113492,NM_006640,NM_001113493,NM_001113494,NM_001113496,NM_001113495 SEPT9,SEPT9,SEPT9,SEPT9,SEPT9,SEPT9,SEPT9 EXON Missense_D484E,Missense_D320E,Missense_D466E,Missense_D477E,Missense_D320E,Missense_D233E,Missense_D372E exm1359510 17 75494678 [A/G] NM_001113491,NM_001113492,NM_006640,NM_001113493,NM_001113494,NM_001113496,NM_001113495 SEPT9,SEPT9,SEPT9,SEPT9,SEPT9,SEPT9,SEPT9 EXON Missense_E567K,Missense_E403K,Missense_E549K,Missense_E560K,Missense_E403K,Missense_E316K,Missense_E455K exm1359514 17 75494702 [A/G] NM_001113491,NM_001113492,NM_006640,NM_001113493,NM_001113494,NM_001113496,NM_001113495 SEPT9,SEPT9,SEPT9,SEPT9,SEPT9,SEPT9,SEPT9 EXON Missense_G575S,Missense_G411S,Missense_G557S,Missense_G568S,Missense_G411S,Missense_G324S,Missense_G463S exm-rs9906155 17 75701697 [T/C] exm2264637 17 75712926 [A/C] exm2272560 17 75848699 [T/C] exm2227317 17 76045264 [A/G] NM_001142640,NM_018996 TNRC6C,TNRC6C EXON Missense_G41R,Missense_G41R exm1359554 17 76045336 [T/C] NM_001142640,NM_018996 TNRC6C,TNRC6C EXON Missense_C65R,Missense_C65R exm1359561 17 76045508 [A/G] NM_001142640,NM_018996 TNRC6C,TNRC6C EXON Missense_N122S,Missense_N122S exm1359562 17 76045526 [T/G] NM_001142640,NM_018996 TNRC6C,TNRC6C EXON Missense_S128I,Missense_S128I exm1359563 17 76045567 [A/G] NM_001142640,NM_018996 TNRC6C,TNRC6C EXON Missense_G142R,Missense_G142R exm1359575 17 76045877 [A/G] NM_001142640,NM_018996 TNRC6C,TNRC6C EXON Missense_S245N,Missense_S245N exm1359582 17 76046063 [T/G] NM_001142640,NM_018996 TNRC6C,TNRC6C EXON Missense_G307V,Missense_G307V exm1359585 17 76046101 [A/G] NM_001142640,NM_018996 TNRC6C,TNRC6C EXON Missense_V320I,Missense_V320I exm1903209 17 76046266 [A/G] NM_001142640,NM_018996 TNRC6C,TNRC6C EXON Missense_V375I,Missense_V375I exm1359592 17 76046408 [A/G] NM_001142640,NM_018996 TNRC6C,TNRC6C EXON Missense_R422Q,Missense_R422Q exm1359601 17 76046587 [A/G] NM_001142640,NM_018996 TNRC6C,TNRC6C EXON Missense_A482T,Missense_A482T exm1359603 17 76046623 [A/G] NM_001142640,NM_018996 TNRC6C,TNRC6C EXON Missense_D494N,Missense_D494N exm1359605 17 76046676 [A/C] NM_001142640,NM_018996 TNRC6C,TNRC6C EXON Missense_N511K,Missense_N511K exm1359611 17 76046726 [A/G] NM_001142640,NM_018996 TNRC6C,TNRC6C EXON Missense_N528S,Missense_N528S exm1359613 17 76046744 [T/C] NM_001142640,NM_018996 TNRC6C,TNRC6C EXON Missense_P534L,Missense_P534L exm1359620 17 76046936 [T/A] NM_001142640,NM_018996 TNRC6C,TNRC6C EXON Missense_D598V,Missense_D598V exm1359627 17 76047131 [T/C] NM_001142640,NM_018996 TNRC6C,TNRC6C EXON Missense_P663L,Missense_P663L exm1359645 17 76060866 [G/C] NM_001142640,NM_018996 TNRC6C,TNRC6C EXON Missense_P817R,Missense_P820R exm1359658 17 76063855 [A/G] NM_001142640,NM_018996 TNRC6C,TNRC6C EXON Missense_E874K,Missense_E877K exm1359681 17 76075557 [A/G] NM_001142640,NM_018996 TNRC6C,TNRC6C EXON Missense_V1095M,Missense_V1098M exm1359697 17 76082977 [A/T] NM_001142640,NM_018996 TNRC6C,TNRC6C EXON Missense_H1199L,Missense_H1202L exm1359710 17 76087565 [A/G] NM_001142640,NM_018996 TNRC6C,TNRC6C EXON Missense_G1280S,Missense_G1283S exm1359713 17 76087634 [A/G] NM_001142640,NM_018996 TNRC6C,TNRC6C EXON Missense_M1303V,Missense_M1306V exm1359715 17 76087662 [A/C] NM_001142640,NM_018996 TNRC6C,TNRC6C EXON Missense_P1312H,Missense_P1315H exm1359719 17 76089062 [T/C] NM_001142640,NM_018996 TNRC6C,TNRC6C EXON Missense_I1337T,Missense_I1340T exm1359721 17 76089080 [A/G] NM_001142640,NM_018996 TNRC6C,TNRC6C EXON Missense_R1343Q,Missense_R1346Q exm1359724 17 76089127 [C/G] NM_001142640,NM_018996 TNRC6C,TNRC6C EXON Missense_A1359P,Missense_A1362P exm1359737 17 76094475 [T/C] NM_001142640,NM_018996 TNRC6C,TNRC6C EXON Missense_T1489M,Missense_T1453M exm1359768 17 76109263 [A/G] NM_007267,NM_001127198 TMC6,TMC6 EXON Missense_P795L,Missense_P795L exm1359770 17 76109269 [A/G] NM_007267,NM_001127198 TMC6,TMC6 EXON Missense_A793V,Missense_A793V exm2253246 17 76115097 [A/G] NM_007267,NM_001127198 TMC6,TMC6 EXON Synonymous_P614P,Synonymous_P614P exm1359818 17 76115435 [A/G] NM_007267,NM_001127198 TMC6,TMC6 EXON Missense_P585L,Missense_P585L exm1359820 17 76115441 [T/C] NM_007267,NM_001127198 TMC6,TMC6 EXON Missense_R583Q,Missense_R583Q exm1359824 17 76116777 [T/C] NM_007267,NM_001127198 TMC6,TMC6 EXON Missense_V558I,Missense_V558I exm1359829 17 76116857 [T/C] NM_007267,NM_001127198 TMC6,TMC6 EXON Missense_R531H,Missense_R531H exm1359834 17 76117124 [A/G] NM_007267,NM_001127198 TMC6,TMC6 EXON Missense_P502L,Missense_P502L exm1359836 17 76117158 [A/G] NM_007267,NM_001127198 TMC6,TMC6 EXON Missense_R491C,Missense_R491C exm1903296 17 76117661 [A/G] NM_007267,NM_001127198 TMC6,TMC6 EXON Synonymous_H453H,Synonymous_H453H exm2253247 17 76117676 [A/G] NM_007267,NM_001127198 TMC6,TMC6 EXON Synonymous_C448C,Synonymous_C448C exm1359845 17 76117686 [A/G] NM_007267,NM_001127198 TMC6,TMC6 EXON Missense_A445V,Missense_A445V exm1359853 17 76118699 [T/C] NM_007267,NM_001127198 TMC6,TMC6 EXON Missense_R405H,Missense_R405H exm1359859 17 76118774 [A/G] NM_007267,NM_001127198 TMC6,TMC6 EXON Missense_A380V,Missense_A380V exm1359866 17 76120077 [A/C] NM_007267,NM_001127198 TMC6,TMC6 EXON Missense_V359L,Missense_V359L exm1359871 17 76120166 [A/G] NM_007267,NM_001127198 TMC6,TMC6 EXON Missense_T329I,Missense_T329I exm1359875 17 76120211 [A/G] NM_007267,NM_001127198 TMC6,TMC6 EXON Missense_T314M,Missense_T314M exm1359879 17 76120606 [A/G] NM_007267,NM_001127198 TMC6,TMC6 EXON Missense_A297V,Missense_A297V exm1359880 17 76120637 [T/C] NM_007267,NM_001127198 TMC6,TMC6 EXON Missense_V287I,Missense_V287I exm1359885 17 76120658 [T/C] NM_007267,NM_001127198 TMC6,TMC6 EXON Missense_A280T,Missense_A280T exm1359902 17 76120993 [A/G] NM_007267,NM_001127198 TMC6,TMC6 EXON Missense_R204W,Missense_R204W exm1359903 17 76121004 [A/G] NM_007267,NM_001127198 TMC6,TMC6 EXON Missense_S200F,Missense_S200F exm1359906 17 76121031 [T/C] NM_007267,NM_001127198 TMC6,TMC6 EXON Missense_G191D,Missense_G191D exm1359911 17 76121318 [A/G] NM_007267,NM_001127198 TMC6,TMC6 EXON Missense_L153F,Missense_L153F exm1359916 17 76121864 [A/G] NM_007267,NM_001127198 TMC6,TMC6 EXON Missense_W125R,Missense_W125R exm1359920 17 76121897 [A/G] NM_007267,NM_001127198 TMC6,TMC6 EXON Missense_R114W,Missense_R114W exm1359922 17 76121920 [A/G] NM_007267,NM_001127198 TMC6,TMC6 EXON Missense_V106A,Missense_V106A exm1359924 17 76121927 [A/G] NM_007267,NM_001127198 TMC6,TMC6 EXON Missense_R104C,Missense_R104C exm1359960 17 76128532 [G/C] NM_152468 TMC8 EXON Missense_V131L exm1359975 17 76129488 [A/C] NM_152468 TMC8 EXON Missense_A178D exm2227328 17 76129608 [A/G] NM_152468 TMC8 EXON Missense_C218Y exm1359985 17 76129619 [T/C] NM_152468 TMC8 EXON Missense_R222W exm1360004 17 76130575 [A/T] NM_152468 TMC8 EXON Missense_N306I exm1360011 17 76130987 [T/G] NM_152468 TMC8 EXON Missense_G342W exm1360020 17 76133356 [A/G] NM_152468 TMC8 EXON Missense_V390I exm1360022 17 76133374 [A/G] NM_152468 TMC8 EXON Missense_I396V exm1360040 17 76134096 [T/G] NM_152468 TMC8 EXON Missense_D454Y exm1360041 17 76134100 [A/G] NM_152468 TMC8 EXON Missense_R455Q exm1360049 17 76134237 [A/G] NM_152468 TMC8 EXON Missense_V501I exm1360050 17 76134249 [T/C] NM_152468 TMC8 EXON Missense_L505F exm1360054 17 76134452 [A/G] NM_152468 TMC8 EXON Missense_R519K exm1360055 17 76134467 [T/C] NM_152468 TMC8 EXON Missense_P524L exm1360075 17 76136994 [T/C] NM_152468 TMC8 EXON Missense_P661L exm1360087 17 76157044 [T/C] NM_001163075 C17orf99 EXON Missense_P27S exm1360089 17 76157093 [A/G] NM_001163075 C17orf99 EXON Missense_R43H exm1360091 17 76157199 [A/C] NM_001163075 C17orf99 EXON Missense_H78Q exm1360092 17 76157266 [T/C] NM_001163075 C17orf99 EXON Missense_W101R exm1360096 17 76157326 [G/C] NM_001163075 C17orf99 EXON Missense_L121V exm1360106 17 76162029 [A/C] NM_001163075 C17orf99 EXON Missense_P234T exm1360138 17 76167129 [T/C] NM_004710 SYNGR2 EXON Missense_F111L exm2227336 17 76170850 [A/G] NM_003258 TK1 EXON Missense_P232L exm1360175 17 76171657 [T/C] NM_003258 TK1 EXON Missense_G116R exm1360176 17 76171687 [T/C] NM_003258 TK1 EXON Missense_V106M exm-rs9903350 17 76182323 [T/G] NM_003258 TK1 Silent exm1360211 17 76187091 [A/G] NM_001010982,NM_001145526,NR_027083 AFMID,AFMID,AFMID EXON Missense_R35Q,Missense_R35Q,Silent exm1360212 17 76187108 [C/G] NM_001010982,NM_001145526,NR_027083 AFMID,AFMID,AFMID EXON Missense_A41P,Missense_A41P,Silent exm1360219 17 76198595 [A/G] NM_001010982,NM_001145526 AFMID,AFMID EXON Missense_R57Q,Missense_R57Q exm1360221 17 76198636 [A/G] NM_001010982,NM_001145526 AFMID,AFMID EXON Missense_G71S,Missense_G71S exm1360223 17 76198639 [A/G] NM_001010982,NM_001145526 AFMID,AFMID EXON Missense_E72K,Missense_E72K exm1360242 17 76200907 [A/G] NM_001010982,NM_001145526 AFMID,AFMID Silent,Silent exm1360244 17 76200941 [T/C] NM_001010982,NM_001145526 AFMID,AFMID EXON Missense_R143C,Missense_R143C exm1360246 17 76200965 [T/C] NM_001010982,NM_001145526 AFMID,AFMID EXON Missense_R151W,Missense_R151W exm1360249 17 76201226 [T/C] NM_001010982,NM_001145526 AFMID,AFMID EXON Missense_L174F,Missense_L174F exm1360261 17 76201734 [T/C] NM_001010982,NM_001145526 AFMID,AFMID EXON Missense_P232L,Missense_P232L exm1360263 17 76201751 [T/C] NM_001010982,NM_001145526 AFMID,AFMID EXON Missense_R238C,Missense_R238C exm1360273 17 76202995 [A/G] NM_001010982,NM_001145526 AFMID,AFMID EXON Missense_I297V,Missense_I302V exm1360279 17 76210422 [T/G] NM_001168,NM_001012271,NM_001012270 BIRC5,BIRC5,BIRC5 EXON Missense_A9S,Missense_A9S,Missense_A9S exm1360289 17 76212052 [T/C] NM_001168,NM_001012271,NM_001012270 BIRC5,BIRC5,BIRC5 EXON Silent,Missense_P76L,Silent exm1360304 17 76219589 [T/C] NM_001168,NM_001012271,NM_001012270 BIRC5,BIRC5,BIRC5 EXON Missense_A128V,Missense_A151V,Missense_R89W exm1360305 17 76219590 [A/G] NM_001168,NM_001012271,NM_001012270 BIRC5,BIRC5,BIRC5 EXON Synonymous_A128A,Synonymous_A151A,Missense_R89Q exm1360306 17 76219591 [A/G] NM_001168,NM_001012271,NM_001012270 BIRC5,BIRC5,BIRC5 EXON Missense_E129K,Missense_E152K,Synonymous_R89R exm1360311 17 76219646 [T/C] NM_001168,NM_001012271,NM_001012270 BIRC5,BIRC5,BIRC5 EXON Silent,Silent,Missense_R108W exm1360313 17 76219685 [G/C] NM_001168,NM_001012271,NM_001012270 BIRC5,BIRC5,BIRC5 EXON Silent,Silent,Missense_G121R exm1360330 17 76230693 [T/G] NM_001204212,NM_001204211,NM_001204210 TMEM235,TMEM235,TMEM235 EXON Silent,Missense_I70M,Missense_I97M exm1360333 17 76235162 [T/C] NM_001204212,NM_001204211,NM_001204210 TMEM235,TMEM235,TMEM235 EXON Missense_A83V,Missense_A129V,Missense_A156V exm1360335 17 76235203 [A/G] NM_001204212,NM_001204211,NM_001204210 TMEM235,TMEM235,TMEM235 EXON Missense_V97I,Missense_V143I,Missense_V170I exm1360338 17 76235317 [A/G] NM_001204212,NM_001204211,NM_001204210 TMEM235,TMEM235,TMEM235 EXON Missense_I135V,Missense_I181V,Missense_I208V exm1360339 17 76235330 [A/T] NM_001204212,NM_001204211,NM_001204210 TMEM235,TMEM235,TMEM235 EXON Missense_L139Q,Missense_L185Q,Missense_L212Q exm2253249 17 76354595 [T/C] NM_003955 SOCS3 EXON Synonymous_R194R exm1360386 17 76395430 [T/C] NM_024419 PGS1 EXON Synonymous_G171G exm1903516 17 76395468 [A/G] NM_024419 PGS1 EXON Missense_R184Q exm1360404 17 76396904 [A/G] NM_024419 PGS1 EXON Missense_Q283R exm1360407 17 76399660 [A/G] NM_024419 PGS1 EXON Missense_E298K exm1360409 17 76399673 [T/C] NM_024419 PGS1 EXON Missense_A302V exm1360417 17 76399916 [A/G] NM_024419 PGS1 EXON Missense_Y383C exm1360426 17 76400105 [T/G] NM_024419 PGS1 EXON Missense_L446R exm-rs4129767 17 76403984 [A/G] NM_024419 PGS1 Silent exm1903537 17 76410977 [T/G] NM_024419 PGS1 EXON Missense_A474S exm1360439 17 76415682 [A/G] NM_024419 PGS1 EXON Missense_Q536R exm1360454 17 76420046 [T/C] NM_024419,NM_173628 PGS1,DNAH17 EXON Silent,Missense_T4444A exm1360458 17 76420085 [T/C] NM_024419,NM_173628 PGS1,DNAH17 EXON Silent,Missense_I4431V exm1360463 17 76420133 [A/G] NM_024419,NM_173628 PGS1,DNAH17 EXON Silent,Missense_R4415C exm1360464 17 76420174 [A/G] NM_024419,NM_173628 PGS1,DNAH17 EXON Silent,Missense_P4401L exm1360471 17 76420229 [A/G] NM_024419,NM_173628 PGS1,DNAH17 EXON Silent,Missense_R4383C exm1360482 17 76421535 [A/G] NM_173628 DNAH17 EXON Missense_W4345R exm1360490 17 76421601 [T/C] NM_173628 DNAH17 EXON Missense_A4323T exm1360493 17 76421626 [A/C] NM_173628 DNAH17 EXON Missense_F4314L exm1360503 17 76422599 [T/C] NM_173628 DNAH17 EXON Missense_R4285Q exm1360524 17 76423125 [A/G] NM_173628 DNAH17 EXON Missense_M4218T exm2227344 17 76424628 [A/G] NM_173628 DNAH17 EXON Missense_T4189M exm1360536 17 76424678 [T/G] NM_173628 DNAH17 EXON Missense_F4172L exm1360544 17 76425218 [C/G] NM_173628 DNAH17 EXON Missense_P4130R exm1360550 17 76425269 [A/G] NM_173628 DNAH17 EXON Missense_T4113M exm1360551 17 76425272 [T/C] NM_173628 DNAH17 EXON Missense_R4112Q exm1360554 17 76425297 [T/C] NM_173628 DNAH17 EXON Missense_R4104G exm1360558 17 76425370 [T/G] NM_173628 DNAH17 EXON Missense_D4079E exm1360560 17 76430112 [A/T] NM_173628 DNAH17 EXON Nonsense_K4075X exm1360567 17 76430205 [T/C] NM_173628 DNAH17 EXON Missense_G4044S exm1360568 17 76430214 [A/G] NM_173628 DNAH17 EXON Missense_R4041C exm1360582 17 76433898 [T/C] NM_173628 DNAH17 EXON Missense_H3953R exm1360583 17 76433899 [A/G] NM_173628 DNAH17 EXON Missense_H3953Y exm1360586 17 76433931 [T/C] NM_173628 DNAH17 EXON Missense_R3942Q exm1360587 17 76433932 [A/G] NM_173628 DNAH17 EXON Missense_R3942W exm1360594 17 76435216 [A/C] NM_173628 DNAH17 EXON Missense_A3921S exm1360601 17 76437187 [T/C] NM_173628 DNAH17 EXON Missense_I3875V exm1360635 17 76446377 [T/C] NM_173628 DNAH17 EXON Missense_D3667N exm1360643 17 76446440 [T/C] NM_173628 DNAH17 EXON Missense_E3646K exm1360649 17 76446790 [A/G] NM_173628 DNAH17 EXON Missense_H3625Y exm1360655 17 76446858 [T/C] NM_173628 DNAH17 EXON Missense_R3602H exm1360671 17 76449486 [T/C] NM_173628 DNAH17 EXON Missense_G3490S exm1360673 17 76449510 [T/C] NM_173628 DNAH17 EXON Missense_D3482N exm1360689 17 76451830 [T/C] NM_173628 DNAH17 EXON Missense_V3356I exm1360699 17 76454666 [A/C] NM_173628 DNAH17 EXON Missense_V3320L exm1360701 17 76454669 [T/C] NM_173628 DNAH17 EXON Missense_R3319G exm1360708 17 76455083 [A/G] NM_173628 DNAH17 EXON Synonymous_A3287A exm1360711 17 76455187 [T/C] NM_173628 DNAH17 EXON Missense_E3253K exm1360712 17 76455199 [T/C] NM_173628 DNAH17 EXON Missense_V3249I exm1360720 17 76455265 [T/C] NM_173628 DNAH17 EXON Missense_D3227N exm1360724 17 76455887 [T/A] NM_173628 DNAH17 EXON Missense_E3211V exm1360726 17 76455897 [A/G] NM_173628 DNAH17 EXON Missense_H3208Y exm1360733 17 76456017 [C/G] NM_173628 DNAH17 EXON Missense_V3168L exm1360734 17 76456020 [T/C] NM_173628 DNAH17 EXON Missense_A3167T exm1360736 17 76456023 [T/C] NM_173628 DNAH17 EXON Missense_A3166T exm1360752 17 76457643 [T/C] NM_173628 DNAH17 EXON Missense_V3108I exm1360759 17 76457702 [T/C] NM_173628 DNAH17 EXON Missense_G3088D exm1360766 17 76458943 [A/G] NM_173628 DNAH17 EXON Nonsense_Q3053X exm1360769 17 76459051 [A/G] NM_173628 DNAH17 EXON Missense_P3017S exm1360785 17 76462738 [T/G] NM_173628 DNAH17 EXON Missense_P2980Q exm1360794 17 76462861 [T/C] NM_173628 DNAH17 EXON Missense_R2939Q exm1360796 17 76462876 [A/G] NM_173628 DNAH17 EXON Missense_V2934A exm1360802 17 76464749 [A/G] NM_173628 DNAH17 EXON Missense_R2910W exm1360812 17 76464916 [A/G] NM_173628 DNAH17 EXON Missense_S2854L exm2268058 17 76467946 [A/G] NM_173628 DNAH17 Silent exm2276546 17 76471408 [A/G] NM_173628 DNAH17 EXON Synonymous_D2821D exm1360834 17 76471536 [T/C] NM_173628 DNAH17 EXON Missense_A2779T exm1360836 17 76471792 [T/C] NM_173628 DNAH17 EXON Missense_V2760I exm1360837 17 76471808 [G/C] NM_173628 DNAH17 EXON Missense_N2754K exm1360843 17 76471842 [T/C] NM_173628 DNAH17 EXON Missense_K2743R exm1360851 17 76472676 [C/G] NM_173628 DNAH17 EXON Missense_A2711G exm1360852 17 76472680 [T/C] NM_173628 DNAH17 EXON Missense_M2710V exm1360855 17 76472713 [T/C] NM_173628 DNAH17 EXON Missense_E2699K exm1360856 17 76472719 [T/C] NM_173628 DNAH17 EXON Missense_V2697I exm1360858 17 76472767 [T/C] NM_173628 DNAH17 EXON Missense_V2681I exm1360862 17 76472817 [T/C] NM_173628 DNAH17 Silent exm1360865 17 76475117 [T/C] NM_173628 DNAH17 EXON Missense_N2661S exm1360867 17 76475162 [A/G] NM_173628 DNAH17 EXON Missense_T2646M exm1360870 17 76475180 [A/G] NM_173628 DNAH17 EXON Missense_T2640M exm1360873 17 76475198 [A/G] NM_173628 DNAH17 EXON Missense_A2634V exm1360882 17 76475680 [A/C] NM_173628 DNAH17 EXON Missense_G2596V exm1360884 17 76476764 [A/T] NM_173628 DNAH17 Silent exm1360894 17 76480966 [T/C] NM_173628 DNAH17 EXON Missense_M2545V exm1360899 17 76481041 [A/C] NM_173628 DNAH17 EXON Missense_F2520V exm1360903 17 76481692 [T/C] NM_173628 DNAH17 EXON Missense_D2475N exm2253253 17 76481807 [T/G] NM_173628 DNAH17 EXON Synonymous_R2436R exm1360914 17 76481820 [A/G] NM_173628 DNAH17 EXON Missense_T2432M exm1360918 17 76482056 [T/C] NM_173628 DNAH17 EXON Missense_D2421N exm1360921 17 76482076 [A/G] NM_173628 DNAH17 EXON Missense_P2414L exm1360938 17 76482395 [T/C] NM_173628 DNAH17 EXON Missense_V2338M exm1360976 17 76488763 [T/C] NM_173628 DNAH17 EXON Missense_D2165N exm1360985 17 76488840 [T/C] NM_173628 DNAH17 EXON Missense_K2139R exm1360989 17 76490147 [T/C] NM_173628 DNAH17 EXON Missense_V2127I exm1360997 17 76490685 [T/G] NM_173628 DNAH17 EXON Missense_N2087T exm1360999 17 76490695 [A/G] NM_173628 DNAH17 EXON Missense_R2084W exm1361002 17 76490718 [G/C] NM_173628 DNAH17 EXON Missense_P2076R exm1361013 17 76491052 [A/G] NM_173628 DNAH17 EXON Missense_L2011F exm1361014 17 76491057 [T/C] NM_173628 DNAH17 EXON Missense_E2009G exm1361015 17 76491094 [A/C] NM_173628 DNAH17 EXON Missense_A1997S exm1361017 17 76491127 [T/C] NM_173628 DNAH17 EXON Missense_M1986V exm1361027 17 76492005 [A/C] NM_173628 DNAH17 EXON Missense_G1952V exm1361033 17 76495095 [T/C] NM_173628 DNAH17 EXON Missense_V1914M exm1361045 17 76496482 [T/C] NM_173628 DNAH17 EXON Missense_A1849T exm1361054 17 76497299 [A/G] NM_173628 DNAH17 EXON Missense_T1817M exm1361055 17 76497320 [A/G] NM_173628 DNAH17 EXON Missense_S1810F exm1361061 17 76497380 [T/C] NM_173628 DNAH17 EXON Missense_R1790H exm1361064 17 76497404 [A/G] NM_173628 DNAH17 EXON Missense_T1782I exm1361078 17 76497920 [A/C] NM_173628 DNAH17 EXON Missense_M1742I exm1361080 17 76497930 [A/G] NM_173628 DNAH17 EXON Missense_T1739M exm1361081 17 76497940 [T/C] NM_173628 DNAH17 EXON Missense_V1736I exm1361097 17 76499039 [T/C] NM_173628 DNAH17 EXON Missense_E1671K exm1361106 17 76501475 [T/C] NM_173628 DNAH17 EXON Missense_R1619Q exm2276547 17 76503397 [A/G] NM_173628 DNAH17 EXON Missense_P1547S exm1361114 17 76503418 [T/C] NM_173628 DNAH17 EXON Missense_V1540M exm1361117 17 76503552 [T/G] NM_173628 DNAH17 EXON Missense_N1524K exm1361118 17 76503560 [A/C] NM_173628 DNAH17 EXON Missense_D1522Y exm1361123 17 76503593 [T/C] NM_173628 DNAH17 EXON Missense_T1511A exm1361134 17 76503781 [A/G] NM_173628 DNAH17 EXON Missense_T1448M exm1361139 17 76506489 [T/C] NM_173628 DNAH17 EXON Missense_V1405M exm1361153 17 76510927 [A/G] NM_173628 DNAH17 EXON Missense_R1348C exm1361159 17 76510969 [T/C] NM_173628 DNAH17 EXON Missense_V1334M exm1361160 17 76510974 [A/G] NM_173628 DNAH17 EXON Missense_A1332V exm1361164 17 76511038 [T/C] NM_173628 DNAH17 EXON Missense_I1311V exm1361169 17 76511089 [T/C] NM_173628 DNAH17 EXON Missense_E1294K exm1361176 17 76521134 [T/C] NM_173628 DNAH17 EXON Missense_R1274Q exm1361186 17 76522785 [T/C] NM_173628 DNAH17 EXON Missense_R1220H exm1361190 17 76522981 [T/C] NM_173628 DNAH17 EXON Missense_R1202Q exm1361200 17 76525581 [T/C] NM_173628 DNAH17 EXON Missense_M1160I exm1361202 17 76525592 [T/C] NM_173628 DNAH17 EXON Missense_G1157R exm2253254 17 76525755 [A/G] NM_173628 DNAH17 EXON Synonymous_F1102F exm1361212 17 76525759 [C/G] NM_173628 DNAH17 EXON Missense_A1101G exm1361215 17 76526476 [T/C] NM_173628 DNAH17 EXON Missense_R1078Q exm1361226 17 76528569 [C/G] NM_173628 DNAH17 EXON Missense_E1037Q exm1361230 17 76528637 [A/G] NM_173628 DNAH17 EXON Missense_A1014V exm2253255 17 76528660 [T/C] NM_173628 DNAH17 EXON Synonymous_L1006L exm1361238 17 76528754 [T/C] NM_173628 DNAH17 EXON Missense_N975S exm1361241 17 76528799 [G/C] NM_173628 DNAH17 EXON Missense_T960R exm1361243 17 76528811 [A/C] NM_173628 DNAH17 EXON Missense_L956R exm1361246 17 76533410 [A/G] NM_173628 DNAH17 EXON Missense_R944W exm1361247 17 76533416 [T/C] NM_173628 DNAH17 EXON Missense_I942V exm1361249 17 76533424 [A/G] NM_173628 DNAH17 EXON Missense_A939V exm1361255 17 76533476 [A/G] NM_173628 DNAH17 EXON Missense_R922C exm1361258 17 76533514 [T/C] NM_173628 DNAH17 EXON Missense_G909E exm1361267 17 76535859 [T/C] NM_173628 DNAH17 EXON Missense_R879H exm1361270 17 76535932 [G/C] NM_173628 DNAH17 EXON Missense_L855V exm1361284 17 76539988 [T/C] NM_173628 DNAH17 EXON Missense_R828H exm2253256 17 76540041 [A/G] NM_173628 DNAH17 EXON Synonymous_N810N exm1361291 17 76540070 [T/C] NM_173628 DNAH17 EXON Missense_A801T exm1361293 17 76547634 [T/C] NM_173628 DNAH17 EXON Missense_I792V exm1361294 17 76547636 [A/C] NM_173628 DNAH17 EXON Missense_G791V exm1361303 17 76548802 [A/G] NM_173628 DNAH17 EXON Missense_T755M exm1361308 17 76548866 [T/C] NM_173628 DNAH17 EXON Missense_V734I exm1361312 17 76554237 [A/G] NM_173628 DNAH17 EXON Missense_R711W exm1361317 17 76554320 [C/G] NM_173628 DNAH17 EXON Missense_R683T exm1361324 17 76556883 [T/C] NM_173628 DNAH17 EXON Missense_G657E exm1361327 17 76556916 [A/G] NM_173628 DNAH17 EXON Missense_A646V exm1361332 17 76556982 [T/C] NM_173628 DNAH17 EXON Missense_Q624R exm1361335 17 76556989 [T/C] NM_173628 DNAH17 EXON Missense_T622A exm1361357 17 76558029 [T/G] NM_173628 DNAH17 EXON Missense_P535T exm1361359 17 76558052 [A/G] NM_173628 DNAH17 EXON Missense_M527T exm1361362 17 76562748 [A/G] NM_173628 DNAH17 EXON Missense_T506M exm1361368 17 76562802 [T/C] NM_173628 DNAH17 EXON Missense_R488H exm1361373 17 76563082 [A/G] NM_173628 DNAH17 EXON Missense_S484L exm1361377 17 76563116 [T/C] NM_173628 DNAH17 EXON Missense_D473N exm1361379 17 76563157 [T/C] NM_173628 DNAH17 EXON Missense_R459H exm1361385 17 76563241 [T/C] NM_173628 DNAH17 EXON Missense_Y431C exm1361386 17 76565267 [T/C] NM_173628 DNAH17 EXON Missense_Q422R exm1361391 17 76565492 [T/C] NM_173628 DNAH17 EXON Missense_D388N exm1361399 17 76565555 [T/C] NM_173628 DNAH17 EXON Missense_E367K exm1361405 17 76566367 [T/C] NM_173628 DNAH17 EXON Missense_V336I exm1361407 17 76566378 [A/G] NM_173628 DNAH17 EXON Missense_A332V exm1361431 17 76567679 [T/C] NM_173628 DNAH17 EXON Missense_H242R exm1361433 17 76567707 [T/C] NM_173628 DNAH17 EXON Missense_T233A exm1361451 17 76568872 [A/C] NM_173628 DNAH17 EXON Missense_F150L exm1361455 17 76568908 [G/C] NM_173628 DNAH17 EXON Missense_I138M exm1361461 17 76570851 [A/G] NM_173628 DNAH17 EXON Missense_L97F exm1361463 17 76570885 [C/G] NM_173628 DNAH17 EXON Missense_E85D exm1361464 17 76570890 [A/G] NM_173628 DNAH17 EXON Missense_S84P exm1361474 17 76570995 [T/C] NM_173628 DNAH17 EXON Missense_V49I exm1361479 17 76571043 [T/C] NM_173628 DNAH17 EXON Missense_A33T exm1361484 17 76571088 [T/C] NM_173628 DNAH17 EXON Missense_I18V exm1361485 17 76571121 [T/C] NM_173628 DNAH17 EXON Missense_V7I exm1361491 17 76672180 [T/C] NM_004762,NM_017456 CYTH1,CYTH1 EXON Missense_R397Q,Missense_R396Q exm1361498 17 76676297 [T/C] NM_004762,NM_017456 CYTH1,CYTH1 EXON Missense_K365E,Missense_K364E exm1361509 17 76688579 [A/C] NM_004762,NM_017456 CYTH1,CYTH1 Silent,Silent exm1361521 17 76695024 [T/C] NM_004762,NM_017456 CYTH1,CYTH1 EXON Missense_I193V,Missense_I193V exm-rs7220955 17 76700063 [A/G] NM_004762,NM_017456 CYTH1,CYTH1 Silent,Silent exm1361548 17 76705754 [T/C] NM_004762,NM_017456 CYTH1,CYTH1 EXON Missense_Q28R,Missense_Q28R exm1361562 17 76794506 [T/C] NM_025090 USP36 EXON Missense_R1123H exm1361563 17 76794509 [T/C] NM_025090 USP36 EXON Missense_R1122H exm1361565 17 76794561 [A/G] NM_025090 USP36 EXON Missense_R1105W exm1903934 17 76794580 [G/C] NM_025090 USP36 EXON Missense_F1098L exm1361569 17 76795004 [A/G] NM_025090 USP36 EXON Missense_F1076L exm1361572 17 76795028 [T/C] NM_025090 USP36 EXON Missense_V1068M exm1361575 17 76795039 [T/C] NM_025090 USP36 EXON Missense_R1064Q exm1361583 17 76795805 [C/G] NM_025090 USP36 EXON Missense_S1023C exm1361591 17 76798411 [T/C] NM_025090 USP36 EXON Missense_R1006H exm1361592 17 76798412 [A/G] NM_025090 USP36 EXON Missense_R1006C exm1361594 17 76798435 [A/G] NM_025090 USP36 EXON Missense_A998V exm1903944 17 76798436 [T/C] NM_025090 USP36 EXON Missense_A998T exm1361596 17 76798445 [A/C] NM_025090 USP36 EXON Missense_A995S exm1361598 17 76798453 [T/C] NM_025090 USP36 EXON Missense_S992N exm1361599 17 76798460 [T/C] NM_025090 USP36 EXON Missense_E990K exm1361601 17 76798487 [T/C] NM_025090 USP36 EXON Missense_A981T exm1361609 17 76798561 [T/C] NM_025090 USP36 EXON Missense_K956R exm1903945 17 76799534 [A/G] NM_025090 USP36 EXON Missense_R915W exm1361620 17 76799617 [G/C] NM_025090 USP36 EXON Missense_R887P exm1361630 17 76799795 [A/G] NM_025090 USP36 EXON Missense_R828C exm1361637 17 76799860 [T/C] NM_025090 USP36 EXON Missense_Q806R exm1361660 17 76802344 [T/C] NM_025090 USP36 EXON Missense_G704S exm1361665 17 76803087 [G/C] NM_025090 USP36 EXON Missense_T680S exm1903964 17 76803165 [A/G] NM_025090 USP36 EXON Missense_P654L exm1361672 17 76803168 [A/G] NM_025090 USP36 EXON Missense_T653M exm1361689 17 76803319 [T/C] NM_025090 USP36 EXON Missense_A603T exm1361693 17 76803349 [T/C] NM_025090 USP36 EXON Missense_G593R exm1361709 17 76803613 [T/C] NM_025090 USP36 EXON Missense_I505V exm1361712 17 76803659 [T/C] NM_025090 USP36 EXON Missense_I489M exm1361715 17 76803690 [A/G] NM_025090 USP36 EXON Missense_P479L exm1361717 17 76803702 [A/G] NM_025090 USP36 EXON Missense_T475M exm1361718 17 76803717 [T/C] NM_025090 USP36 EXON Missense_R470Q exm1361736 17 76809894 [A/G] NM_025090 USP36 EXON Missense_V409A exm1361745 17 76810557 [A/G] NM_025090 USP36 EXON Synonymous_L367L exm2253258 17 76810557 [A/G] NM_025090 USP36 EXON Synonymous_L367L exm1361759 17 76814855 [T/C] NM_025090 USP36 EXON Missense_K306R exm1361763 17 76817090 [T/C] NM_025090 USP36 EXON Missense_V271I exm1361769 17 76817132 [T/C] NM_025090 USP36 EXON Missense_V257M exm1361772 17 76818020 [A/G] NM_025090 USP36 EXON Synonymous_R252R exm1361778 17 76823418 [T/G] NM_025090 USP36 EXON Missense_H200N exm1361784 17 76825015 [T/C] NM_025090 USP36 EXON Missense_A184T exm1361791 17 76831364 [A/C] NM_025090 USP36 EXON Missense_S158I exm1361792 17 76831365 [A/T] NM_025090 USP36 EXON Missense_S158C exm1361794 17 76831368 [A/G] NM_025090 USP36 EXON Missense_R157C exm1361795 17 76831394 [T/C] NM_025090 USP36 EXON Missense_N148S exm1361797 17 76831448 [G/C] NM_025090 USP36 EXON Missense_T130S exm1361802 17 76831490 [T/C] NM_025090 USP36 EXON Missense_R116Q exm1361805 17 76831517 [A/G] NM_025090 USP36 EXON Missense_T107M exm1361810 17 76831562 [T/C] NM_025090 USP36 EXON Missense_S92N exm1361830 17 76851906 [A/G] NM_003255 TIMP2 EXON Missense_P169L exm1361832 17 76851942 [A/G] NM_003255 TIMP2 EXON Missense_T157M exm1361838 17 76853714 [A/C] NM_003255 TIMP2 EXON Missense_D119Y exm1361880 17 76967674 [A/G] NM_005567 LGALS3BP EXON Missense_S581F exm1361881 17 76967677 [T/C] NM_005567 LGALS3BP EXON Missense_N580S exm1361894 17 76967770 [T/G] NM_005567 LGALS3BP EXON Missense_D549A exm1361895 17 76967773 [A/T] NM_005567 LGALS3BP EXON Missense_L548Q exm2227369 17 76968002 [T/G] NM_005567 LGALS3BP EXON Missense_Q472K exm1361906 17 76968068 [T/G] NM_005567 LGALS3BP EXON Missense_P450T exm1361908 17 76968109 [G/C] NM_005567 LGALS3BP EXON Missense_R436P exm1361916 17 76968238 [T/C] NM_005567 LGALS3BP EXON Missense_R393Q exm1361922 17 76968394 [T/C] NM_005567 LGALS3BP EXON Missense_G341D exm1361953 17 76969114 [T/C] NM_005567 LGALS3BP EXON Synonymous_P189P exm2253260 17 76969114 [T/C] NM_005567 LGALS3BP EXON Synonymous_P189P exm1361954 17 76969123 [T/C] NM_005567 LGALS3BP EXON Nonsense_W186X exm1904095 17 76969163 [A/G] NM_005567 LGALS3BP EXON Missense_T173M exm2253261 17 76969183 [A/G] NM_005567 LGALS3BP EXON Synonymous_A166A exm1361956 17 76969183 [A/G] NM_005567 LGALS3BP EXON Synonymous_A166A exm1361958 17 76969202 [T/G] NM_005567 LGALS3BP EXON Missense_N160T exm1361962 17 76969234 [G/C] NM_005567 LGALS3BP EXON Missense_S149R exm1361975 17 76972113 [T/C] NM_005567 LGALS3BP EXON Missense_V60I exm1361979 17 76973223 [T/C] NM_005567 LGALS3BP EXON Synonymous_Q17Q exm1361981 17 76973249 [T/C] NM_005567 LGALS3BP EXON Missense_V9M exm1904119 17 76989662 [A/G] NM_001159773,NM_138793,NM_001159772 CANT1,CANT1,CANT1 EXON Synonymous_S392S,Synonymous_S392S,Synonymous_S392S exm1361994 17 76989666 [T/C] NM_001159773,NM_138793,NM_001159772 CANT1,CANT1,CANT1 EXON Missense_G391E,Missense_G391E,Missense_G391E exm1361997 17 76989715 [A/T] NM_001159773,NM_138793,NM_001159772 CANT1,CANT1,CANT1 EXON Missense_M375L,Missense_M375L,Missense_M375L exm1362001 17 76989775 [T/C] NM_001159773,NM_138793,NM_001159772 CANT1,CANT1,CANT1 EXON Missense_D355N,Missense_D355N,Missense_D355N exm2253263 17 76989824 [T/C] NM_001159773,NM_138793,NM_001159772 CANT1,CANT1,CANT1 EXON Synonymous_V338V,Synonymous_V338V,Synonymous_V338V exm1362008 17 76989871 [T/C] NM_001159773,NM_138793,NM_001159772 CANT1,CANT1,CANT1 EXON Missense_A323T,Missense_A323T,Missense_A323T exm2227372 17 76993146 [T/C] NM_001159773,NM_138793,NM_001159772 CANT1,CANT1,CANT1 EXON Missense_V187I,Missense_V187I,Missense_V187I exm1904132 17 76993149 [T/C] NM_001159773,NM_138793,NM_001159772 CANT1,CANT1,CANT1 EXON Missense_V186I,Missense_V186I,Missense_V186I exm1362036 17 76993192 [A/C] NM_001159773,NM_138793,NM_001159772 CANT1,CANT1,CANT1 EXON Missense_I171M,Missense_I171M,Missense_I171M exm1362053 17 76993511 [A/G] NM_001159773,NM_138793,NM_001159772 CANT1,CANT1,CANT1 EXON Missense_A65V,Missense_A65V,Missense_A65V exm1362064 17 76993638 [A/C] NM_001159773,NM_138793,NM_001159772 CANT1,CANT1,CANT1 EXON Missense_G23W,Missense_G23W,Missense_G23W exm1362066 17 76993649 [T/C] NM_001159773,NM_138793,NM_001159772 CANT1,CANT1,CANT1 EXON Missense_R19Q,Missense_R19Q,Missense_R19Q exm1362085 17 77040187 [T/C] NM_153372,NM_198594,NM_030968,NR_049769,NM_198593 C1QTNF1,C1QTNF1,C1QTNF1,C1QTNF1,C1QTNF1 EXON Missense_P46L,Silent,Missense_P46L,Silent,Missense_P46L exm1904160 17 77040190 [T/C] NM_153372,NM_198594,NM_030968,NR_049769,NM_198593 C1QTNF1,C1QTNF1,C1QTNF1,C1QTNF1,C1QTNF1 EXON Missense_P47L,Silent,Missense_P47L,Silent,Missense_P47L exm1362088 17 77042704 [T/C] NM_153372,NM_198594,NM_030968,NR_049769,NM_198593 C1QTNF1,C1QTNF1,C1QTNF1,C1QTNF1,C1QTNF1 EXON Missense_R75C,Silent,Missense_R75C,Silent,Missense_R75C exm1362092 17 77042746 [A/G] NM_153372,NM_198594,NM_030968,NR_049769,NM_198593 C1QTNF1,C1QTNF1,C1QTNF1,C1QTNF1,C1QTNF1 EXON Missense_V89M,Missense_V7M,Missense_V89M,Silent,Missense_V89M exm1362107 17 77043860 [A/G] NM_153372,NM_198594,NM_030968,NR_049769,NM_198593 C1QTNF1,C1QTNF1,C1QTNF1,C1QTNF1,C1QTNF1 EXON Missense_N179S,Missense_N97S,Missense_N179S,Silent,Missense_N179S exm1362108 17 77043893 [C/G] NM_153372,NM_198594,NM_030968,NR_049769,NM_198593 C1QTNF1,C1QTNF1,C1QTNF1,C1QTNF1,C1QTNF1 EXON Missense_P190R,Missense_P108R,Missense_P190R,Silent,Missense_P190R exm1362116 17 77044046 [A/G] NM_153372,NM_198594,NM_030968,NR_049769,NM_198593 C1QTNF1,C1QTNF1,C1QTNF1,C1QTNF1,C1QTNF1 EXON Missense_R241Q,Missense_R159Q,Missense_R241Q,Silent,Missense_R241Q exm1362118 17 77044070 [A/G] NM_153372,NM_198594,NM_030968,NR_049769,NM_198593 C1QTNF1,C1QTNF1,C1QTNF1,C1QTNF1,C1QTNF1 EXON Missense_R249H,Missense_R167H,Missense_R249H,Silent,Missense_R249H exm1904173 17 77044087 [A/C] NM_153372,NM_198594,NM_030968,NR_049769,NM_198593 C1QTNF1,C1QTNF1,C1QTNF1,C1QTNF1,C1QTNF1 EXON Missense_R255S,Missense_R173S,Missense_R255S,Silent,Missense_R255S exm1362137 17 77073901 [A/G] NM_001042573 ENGASE EXON Missense_R124Q exm1362144 17 77075625 [A/C] NM_001042573 ENGASE EXON Nonsense_C157X exm1362147 17 77075659 [A/G] NM_001042573 ENGASE EXON Missense_V169I exm1362169 17 77076432 [A/G] NM_001042573 ENGASE EXON Missense_E237K exm1362175 17 77077007 [T/C] NM_001042573 ENGASE EXON Synonymous_L242L exm1904193 17 77077065 [A/G] NM_001042573 ENGASE EXON Missense_R261Q exm1362188 17 77077979 [A/G] NM_001042573 ENGASE Silent exm1362197 17 77078069 [A/G] NM_001042573 ENGASE EXON Missense_R321H exm1362200 17 77078092 [A/G] NM_001042573 ENGASE EXON Missense_V329M exm1362203 17 77078128 [T/C] NM_001042573 ENGASE EXON Nonsense_R341X exm1362209 17 77079117 [T/C] NM_001042573 ENGASE EXON Nonsense_R352X exm1362210 17 77079118 [A/G] NM_001042573 ENGASE EXON Missense_R352Q exm1904204 17 77079163 [A/G] NM_001042573 ENGASE EXON Missense_Y367C exm1362214 17 77079575 [A/G] NM_001042573 ENGASE EXON Missense_R385Q exm1362217 17 77079584 [A/G] NM_001042573 ENGASE EXON Missense_R388H exm1362219 17 77079611 [T/C] NM_001042573 ENGASE EXON Missense_S397F exm1362226 17 77079852 [A/G] NM_001042573 ENGASE EXON Missense_V421I exm1362229 17 77079876 [A/G] NM_001042573 ENGASE EXON Missense_A429T exm1362237 17 77080633 [T/C] NM_001042573 ENGASE EXON Nonsense_Q486X exm1362238 17 77080651 [A/G] NM_001042573 ENGASE EXON Missense_K492E exm1362241 17 77080696 [A/G] NM_001042573 ENGASE EXON Missense_V507I exm1904218 17 77080700 [T/C] NM_001042573 ENGASE EXON Missense_T508I exm1362247 17 77080751 [A/G] NM_001042573 ENGASE EXON Missense_G525D exm1362261 17 77081721 [T/C] NM_001042573 ENGASE EXON Missense_R574C exm1362267 17 77081788 [A/G] NM_001042573 ENGASE EXON Missense_S596N exm1362275 17 77082063 [A/G] NM_001042573 ENGASE EXON Missense_V622I exm1362279 17 77082105 [T/C] NM_001042573 ENGASE EXON Missense_R636W exm1362284 17 77082174 [T/C] NM_001042573 ENGASE EXON Missense_R659C exm1362287 17 77082235 [T/C] NM_001042573 ENGASE EXON Missense_P679L exm2253266 17 77082320 [T/C] NM_001042573 ENGASE EXON Synonymous_P707P exm1362296 17 77082333 [T/C] NM_001042573 ENGASE EXON Missense_R712C exm1362300 17 77082390 [A/G] NM_001042573 ENGASE EXON Missense_E731K exm1362302 17 77082423 [G/C] NM_001042573 ENGASE EXON Missense_P742A exm1362326 17 77102746 [T/C] NM_001082575 RBFOX3 EXON Missense_R116Q exm2268023 17 77137918 [A/G] NM_001082575 RBFOX3 Silent exm2253267 17 77318992 [A/G] NM_001082575 RBFOX3 Silent exm1362371 17 77704951 [T/C] NM_178543 ENPP7 EXON Missense_A17V exm2227389 17 77705134 [C/G] NM_178543 ENPP7 EXON Missense_C78S exm1362388 17 77707364 [T/G] NM_178543 ENPP7 EXON Missense_K104N exm1362390 17 77707387 [T/C] NM_178543 ENPP7 EXON Missense_T112M exm1362392 17 77707406 [A/G] NM_178543 ENPP7 EXON Nonsense_W118X exm1362395 17 77707453 [T/C] NM_178543 ENPP7 Silent exm1362405 17 77708914 [T/C] NM_178543 ENPP7 EXON Missense_R158W exm1362406 17 77708915 [A/G] NM_178543 ENPP7 EXON Missense_R158Q exm1362412 17 77709019 [G/C] NM_178543 ENPP7 EXON Missense_L193V exm1362414 17 77709044 [T/C] NM_178543 ENPP7 EXON Missense_T201M exm1362420 17 77709098 [T/G] NM_178543 ENPP7 EXON Missense_V219G exm1362430 17 77709154 [A/C] NM_178543 ENPP7 EXON Missense_R238S exm2227390 17 77709191 [T/C] NM_178543 ENPP7 EXON Missense_T250M exm1904496 17 77709256 [A/G] NM_178543 ENPP7 EXON Missense_D272N exm1904497 17 77709383 [T/C] NM_178543 ENPP7 EXON Missense_A314V exm1904498 17 77709388 [A/C] NM_178543 ENPP7 EXON Missense_P316T exm1362461 17 77710873 [A/G] NM_178543 ENPP7 EXON Missense_G354S exm1362475 17 77710986 [A/G] NM_178543 ENPP7 EXON Missense_M391I exm1362476 17 77710990 [T/C] NM_178543 ENPP7 EXON Missense_R393W exm1362477 17 77711005 [A/G] NM_178543 ENPP7 EXON Missense_V398M exm1362479 17 77711011 [A/G] NM_178543 ENPP7 EXON Missense_E400K exm1362480 17 77711018 [A/G] NM_178543 ENPP7 EXON Missense_N402S exm1362484 17 77711716 [A/G] NM_178543 ENPP7 EXON Synonymous_E416E exm1362489 17 77711798 [A/G] NM_178543 ENPP7 EXON Missense_V444M exm1362522 17 77755788 [T/C] NM_005189,NM_032647 CBX2,CBX2 EXON Silent,Missense_P159L exm1362529 17 77755894 [C/G] NM_005189,NM_032647 CBX2,CBX2 EXON Silent,Missense_F194L exm1362531 17 77755916 [A/G] NM_005189,NM_032647 CBX2,CBX2 EXON Silent,Missense_D202N exm1362551 17 77757807 [A/G] NM_005189 CBX2 EXON Missense_A189T exm1362553 17 77757819 [A/C] NM_005189 CBX2 EXON Missense_L193M exm1362561 17 77757912 [A/G] NM_005189 CBX2 EXON Missense_G224S exm1362576 17 77758091 [T/G] NM_005189 CBX2 EXON Missense_K283N exm1362583 17 77758182 [A/G] NM_005189 CBX2 EXON Missense_G314S exm1362596 17 77758360 [A/G] NM_005189 CBX2 EXON Missense_R373H exm1362610 17 77758569 [T/C] NM_005189 CBX2 EXON Missense_R443C exm1362616 17 77758597 [T/C] NM_005189 CBX2 EXON Missense_A452V exm1904539 17 77758620 [A/G] NM_005189 CBX2 EXON Missense_A460T exm1362621 17 77758653 [C/G] NM_005189 CBX2 EXON Missense_P471A exm1362646 17 77768654 [A/C] NM_020649 CBX8 EXON Missense_G317V exm1904548 17 77768688 [A/G] NM_020649 CBX8 EXON Missense_R306W exm1362649 17 77768696 [T/C] NM_020649 CBX8 EXON Missense_N303S exm1362655 17 77768781 [A/G] NM_020649 CBX8 EXON Synonymous_L275L exm2253271 17 77768781 [A/G] NM_020649 CBX8 EXON Synonymous_L275L exm1362668 17 77768955 [T/C] NM_020649 CBX8 EXON Missense_E217K exm1362671 17 77768981 [A/G] NM_020649 CBX8 EXON Missense_P208L exm2227400 17 77769254 [C/G] NM_020649 CBX8 EXON Missense_T117S exm-rs2587507 17 77790135 [T/C] exm1362749 17 77808500 [A/G] NM_003655 CBX4 EXON Missense_A314V exm1362773 17 77809500 [T/C] NM_003655 CBX4 EXON Missense_E64G exm2268025 17 77894206 [A/G] exm1362789 17 77914743 [A/G] NM_001271845,NM_019020,NM_001271844 TBC1D16,TBC1D16,TBC1D16 EXON Missense_T378M,Missense_T740M,Missense_T365M exm1362816 17 77915983 [T/A] NM_001271845,NM_019020,NM_001271844 TBC1D16,TBC1D16,TBC1D16 EXON Missense_I282N,Missense_I644N,Missense_I269N exm1362829 17 77918853 [T/C] NM_001271845,NM_019020,NM_001271844,NM_001271846 TBC1D16,TBC1D16,TBC1D16,TBC1D16 EXON Missense_V226M,Missense_V588M,Missense_V213M,Missense_V226M exm1362839 17 77921593 [T/C] NM_001271845,NM_019020,NM_001271844,NM_001271846 TBC1D16,TBC1D16,TBC1D16,TBC1D16 EXON Missense_V165I,Missense_V527I,Missense_V152I,Missense_V165I exm1362841 17 77921608 [T/C] NM_001271845,NM_019020,NM_001271844,NM_001271846 TBC1D16,TBC1D16,TBC1D16,TBC1D16 EXON Missense_V160M,Missense_V522M,Missense_V147M,Missense_V160M exm1362850 17 77922786 [T/C] NM_001271845,NM_019020,NM_001271844,NM_001271846 TBC1D16,TBC1D16,TBC1D16,TBC1D16 EXON Missense_E114K,Missense_E476K,Missense_E101K,Missense_E114K exm1362859 17 77925269 [T/C] NM_019020 TBC1D16 EXON Missense_E357K exm1362874 17 77926508 [T/C] NM_019020 TBC1D16 EXON Missense_G297S exm1362887 17 77983987 [T/C] NM_019020 TBC1D16 EXON Missense_G251S exm1362893 17 77984008 [T/C] NM_019020 TBC1D16 EXON Missense_A244T exm1362896 17 77984086 [T/C] NM_019020 TBC1D16 EXON Missense_E218K exm1362902 17 77984172 [A/G] NM_019020 TBC1D16 EXON Missense_T189M exm1362903 17 77984175 [A/G] NM_019020 TBC1D16 EXON Missense_S188L exm1362904 17 77984185 [T/C] NM_019020 TBC1D16 EXON Missense_G185R exm1362909 17 77984254 [T/C] NM_019020 TBC1D16 EXON Missense_E162K exm1362910 17 77984268 [A/G] NM_019020 TBC1D16 EXON Missense_A157V exm1904669 17 77984283 [A/G] NM_019020 TBC1D16 EXON Missense_M152T exm1362912 17 77984286 [T/C] NM_019020 TBC1D16 EXON Missense_R151H exm1362924 17 77984464 [T/C] NM_019020 TBC1D16 EXON Missense_E92K exm2227406 17 77987325 [A/G] NM_019020 TBC1D16 EXON Missense_R8C exm1362940 17 78011924 [C/G] NM_001243342,NM_017950 CCDC40,CCDC40 EXON Missense_S11C,Missense_S11C exm1362955 17 78013851 [A/G] NM_001243342,NM_017950 CCDC40,CCDC40 EXON Missense_T112A,Missense_T112A exm1362971 17 78014069 [A/G] NM_001243342,NM_017950 CCDC40,CCDC40 EXON Synonymous_L184L,Synonymous_L184L exm1362974 17 78021123 [A/G] NM_001243342,NM_017950 CCDC40,CCDC40 EXON Missense_V200I,Missense_V200I exm2253275 17 78021155 [T/C] NM_001243342,NM_017950 CCDC40,CCDC40 EXON Synonymous_S210S,Synonymous_S210S exm1362977 17 78021156 [A/G] NM_001243342,NM_017950 CCDC40,CCDC40 EXON Missense_D211N,Missense_D211N exm1362990 17 78022555 [G/C] NM_001243342,NM_017950 CCDC40,CCDC40 EXON Missense_D284H,Missense_D284H exm1362991 17 78022560 [T/C] NM_001243342,NM_017950 CCDC40,CCDC40 EXON Synonymous_H285H,Synonymous_H285H exm1362993 17 78023750 [T/C] NM_001243342,NM_017950 CCDC40,CCDC40 EXON Nonsense_R301X,Nonsense_R301X exm1362994 17 78023751 [A/G] NM_001243342,NM_017950 CCDC40,CCDC40 EXON Missense_R301Q,Missense_R301Q exm1362997 17 78023869 [A/G] NM_001243342,NM_017950 CCDC40,CCDC40 EXON Missense_A316T,Missense_A316T exm1363004 17 78023948 [A/G] NM_001243342,NM_017950 CCDC40,CCDC40 EXON Missense_Q342R,Missense_Q342R exm1904698 17 78023980 [A/G] NM_001243342,NM_017950 CCDC40,CCDC40 EXON Missense_A353T,Missense_A353T exm1363006 17 78023990 [T/C] NM_001243342,NM_017950 CCDC40,CCDC40 EXON Missense_S356L,Missense_S356L exm1363011 17 78024032 [A/G] NM_001243342,NM_017950 CCDC40,CCDC40 EXON Missense_R370H,Missense_R370H exm1363012 17 78024046 [A/C] NM_001243342,NM_017950 CCDC40,CCDC40 EXON Missense_K375Q,Missense_K375Q exm1363015 17 78024055 [A/G] NM_001243342,NM_017950 CCDC40,CCDC40 EXON Missense_A378T,Missense_A378T exm1363016 17 78024061 [A/G] NM_001243342,NM_017950 CCDC40,CCDC40 EXON Missense_A380T,Missense_A380T exm2227407 17 78024067 [A/G] NM_001243342,NM_017950 CCDC40,CCDC40 EXON Missense_E382K,Missense_E382K exm1363020 17 78032320 [A/T] NM_001243342,NM_017950 CCDC40,CCDC40 EXON Missense_N396I,Missense_N396I exm1363021 17 78032334 [C/G] NM_001243342,NM_017950 CCDC40,CCDC40 EXON Missense_L401V,Missense_L401V exm1363023 17 78032353 [T/C] NM_001243342,NM_017950 CCDC40,CCDC40 EXON Missense_I407T,Missense_I407T exm1363032 17 78032436 [A/G] NM_001243342,NM_017950 CCDC40,CCDC40 EXON Missense_E435K,Missense_E435K exm1363037 17 78032718 [T/A] NM_001243342,NM_017950 CCDC40,CCDC40 EXON Missense_F460Y,Missense_F460Y exm1363039 17 78032753 [T/C] NM_001243342,NM_017950 CCDC40,CCDC40 EXON Missense_R472W,Missense_R472W exm1363043 17 78039309 [T/G] NM_001243342,NM_017950 CCDC40,CCDC40 EXON Missense_S489I,Missense_S489I exm1363045 17 78039311 [A/G] NM_001243342,NM_017950 CCDC40,CCDC40 EXON Missense_V490M,Missense_V490M exm1363046 17 78039322 [T/G] NM_001243342,NM_017950 CCDC40,CCDC40 EXON Missense_R493S,Missense_R493S exm1363047 17 78039324 [A/G] NM_001243342,NM_017950 CCDC40,CCDC40 EXON Missense_R494H,Missense_R494H exm1904717 17 78039374 [A/G] NM_001243342,NM_017950 CCDC40,CCDC40 EXON Missense_E511K,Missense_E511K exm1363054 17 78055455 [G/C] NM_001243342,NM_017950 CCDC40,CCDC40 EXON Missense_T558R,Missense_T558R exm1904729 17 78055503 [A/C] NM_001243342,NM_017950 CCDC40,CCDC40 EXON Missense_T574N,Missense_T574N exm1363058 17 78055521 [A/G] NM_001243342,NM_017950 CCDC40,CCDC40 EXON Missense_Q580R,Missense_Q580R exm1363062 17 78055757 [T/C] NM_001243342,NM_017950 CCDC40,CCDC40 EXON Missense_A630V,Missense_A630V exm1363064 17 78055765 [T/C] NM_001243342,NM_017950 CCDC40,CCDC40 EXON Missense_R633W,Missense_R633W exm1363065 17 78055817 [A/G] NM_001243342,NM_017950 CCDC40,CCDC40 EXON Missense_N650S,Missense_N650S exm1363067 17 78055822 [T/C] NM_001243342,NM_017950 CCDC40,CCDC40 EXON Missense_L652F,Missense_L652F exm1363070 17 78058569 [A/G] NM_001243342,NM_017950 CCDC40,CCDC40 EXON Missense_D673N,Missense_D673N exm1363077 17 78058711 [T/C] NM_001243342,NM_017950 CCDC40,CCDC40 EXON Missense_T720M,Missense_T720M exm1363085 17 78059821 [T/C] NM_001243342,NM_017950 CCDC40,CCDC40 EXON Missense_L752P,Missense_L752P exm1363089 17 78059889 [A/G] NM_001243342,NM_017950 CCDC40,CCDC40 EXON Missense_V775M,Missense_V775M exm1363092 17 78059902 [A/G] NM_001243342,NM_017950 CCDC40,CCDC40 EXON Missense_R779H,Missense_R779H exm2227409 17 78059937 [G/C] NM_001243342,NM_017950 CCDC40,CCDC40 EXON Missense_Q791E,Missense_Q791E exm1363101 17 78061540 [T/C] NM_001243342,NM_017950 CCDC40,CCDC40 EXON Missense_R862W,Missense_R862W exm1363104 17 78061564 [T/C] NM_001243342,NM_017950 CCDC40,CCDC40 EXON Missense_R870C,Missense_R870C exm1363116 17 78063636 [A/G] NM_001243342,NM_017950 CCDC40,CCDC40 EXON Missense_G929S,Missense_G929S exm1363117 17 78063652 [A/G] NM_001243342,NM_017950 CCDC40,CCDC40 EXON Missense_R934Q,Missense_R934Q exm2276548 17 78069129 [A/G] NM_017950 CCDC40 EXON Missense_R967H exm1363124 17 78069168 [A/T] NM_017950 CCDC40 EXON Missense_K980M exm1363127 17 78069197 [A/G] NM_017950 CCDC40 EXON Missense_D990N exm1363133 17 78071068 [A/G] NM_017950 CCDC40 EXON Missense_V1016I exm1363141 17 78071198 [A/G] NM_017950 CCDC40 EXON Missense_R1059Q exm1363153 17 78073374 [A/G] NM_017950 CCDC40 EXON Missense_A1077T exm1363160 17 78073485 [A/G] NM_017950 CCDC40 EXON Missense_V1114M exm1363162 17 78073494 [A/G] NM_017950 CCDC40 EXON Missense_E1117K exm1363180 17 78078417 [A/G] NM_001079804,NM_000152,NM_001079803 GAA,GAA,GAA EXON Missense_R11Q,Missense_R11Q,Missense_R11Q exm2253276 17 78078643 [A/C] NM_001079804,NM_000152,NM_001079803 GAA,GAA,GAA EXON Synonymous_P86P,Synonymous_P86P,Synonymous_P86P exm1363196 17 78078656 [A/G] NM_001079804,NM_000152,NM_001079803 GAA,GAA,GAA EXON Missense_D91N,Missense_D91N,Missense_D91N exm1363197 17 78078662 [A/G] NM_001079804,NM_000152,NM_001079803 GAA,GAA,GAA EXON Missense_A93T,Missense_A93T,Missense_A93T exm1363209 17 78078931 [A/G] NM_001079804,NM_000152,NM_001079803 GAA,GAA,GAA EXON Synonymous_T182T,Synonymous_T182T,Synonymous_T182T exm1363215 17 78079597 [A/G] NM_001079804,NM_000152,NM_001079803 GAA,GAA,GAA EXON Missense_H199R,Missense_H199R,Missense_H199R exm1363223 17 78079669 [A/G] NM_001079804,NM_000152,NM_001079803 GAA,GAA,GAA EXON Missense_R223H,Missense_R223H,Missense_R223H exm1363227 17 78079689 [A/G] NM_001079804,NM_000152,NM_001079803 GAA,GAA,GAA EXON Missense_V230M,Missense_V230M,Missense_V230M exm1363234 17 78081415 [T/C] NM_001079804,NM_000152,NM_001079803 GAA,GAA,GAA EXON Missense_S251L,Missense_S251L,Missense_S251L exm1363237 17 78081504 [T/C] NM_001079804,NM_000152,NM_001079803 GAA,GAA,GAA EXON Missense_R281W,Missense_R281W,Missense_R281W exm1363247 17 78081653 [A/G] NM_001079804,NM_000152,NM_001079803 GAA,GAA,GAA EXON Missense_G305R,Missense_G305R,Missense_G305R exm1363249 17 78081657 [T/C] NM_001079804,NM_000152,NM_001079803 GAA,GAA,GAA EXON Missense_S306L,Missense_S306L,Missense_S306L exm1363253 17 78082152 [A/G] NM_001079804,NM_000152,NM_001079803 GAA,GAA,GAA EXON Missense_Y340C,Missense_Y340C,Missense_Y340C exm1363271 17 78082587 [A/G] NM_001079804,NM_000152,NM_001079803 GAA,GAA,GAA EXON Missense_Q429R,Missense_Q429R,Missense_Q429R exm1363273 17 78082599 [A/G] NM_001079804,NM_000152,NM_001079803 GAA,GAA,GAA EXON Missense_Q433R,Missense_Q433R,Missense_Q433R exm1363280 17 78083760 [C/G] NM_001079804,NM_000152,NM_001079803 GAA,GAA,GAA EXON Missense_S448T,Missense_S448T,Missense_S448T exm1363282 17 78083769 [G/C] NM_001079804,NM_000152,NM_001079803 GAA,GAA,GAA EXON Missense_P451R,Missense_P451R,Missense_P451R exm1363303 17 78085871 [A/G] NM_001079804,NM_000152,NM_001079803 GAA,GAA,GAA EXON Missense_G576S,Missense_G576S,Missense_G576S exm2227416 17 78086468 [A/G] NM_001079804,NM_000152,NM_001079803 GAA,GAA,GAA EXON Missense_D616N,Missense_D616N,Missense_D616N exm1363324 17 78087041 [A/G] NM_001079804,NM_000152,NM_001079803 GAA,GAA,GAA EXON Missense_E689K,Missense_E689K,Missense_E689K exm1363335 17 78087131 [T/G] NM_001079804,NM_000152,NM_001079803 GAA,GAA,GAA EXON Missense_A719S,Missense_A719S,Missense_A719S exm1363336 17 78087132 [A/C] NM_001079804,NM_000152,NM_001079803 GAA,GAA,GAA EXON Missense_A719E,Missense_A719E,Missense_A719E exm1363343 17 78090815 [C/G] NM_001079804,NM_000152,NM_001079803 GAA,GAA,GAA EXON Missense_W746C,Missense_W746C,Missense_W746C exm1363344 17 78090822 [T/G] NM_001079804,NM_000152,NM_001079803 GAA,GAA,GAA EXON Missense_A749S,Missense_A749S,Missense_A749S exm1363348 17 78090852 [A/G] NM_001079804,NM_000152,NM_001079803 GAA,GAA,GAA EXON Missense_G759R,Missense_G759R,Missense_G759R exm1363353 17 78090900 [A/C] NM_001079804,NM_000152,NM_001079803 GAA,GAA,GAA EXON Missense_L775M,Missense_L775M,Missense_L775M exm1363356 17 78091405 [A/G] NM_001079804,NM_000152,NM_001079803 GAA,GAA,GAA EXON Missense_V780I,Missense_V780I,Missense_V780I exm1363357 17 78091432 [G/C] NM_001079804,NM_000152,NM_001079803 GAA,GAA,GAA EXON Missense_P789A,Missense_P789A,Missense_P789A exm1363358 17 78091462 [T/C] NM_001079804,NM_000152,NM_001079803 GAA,GAA,GAA EXON Missense_H799Y,Missense_H799Y,Missense_H799Y exm1363363 17 78091484 [T/C] NM_001079804,NM_000152,NM_001079803 GAA,GAA,GAA EXON Missense_T806M,Missense_T806M,Missense_T806M exm1363365 17 78091513 [A/G] NM_001079804,NM_000152,NM_001079803 GAA,GAA,GAA EXON Missense_V816I,Missense_V816I,Missense_V816I exm1363369 17 78092070 [T/C] NM_001079804,NM_000152,NM_001079803 GAA,GAA,GAA EXON Nonsense_R854X,Nonsense_R854X,Nonsense_R854X exm1363386 17 78092585 [T/C] NM_001079804,NM_000152,NM_001079803 GAA,GAA,GAA EXON Missense_T927I,Missense_T927I,Missense_T927I exm1363395 17 78109804 [A/G] NM_014740 EIF4A3 EXON Synonymous_N406N exm1363406 17 78111288 [T/C] NM_014740 EIF4A3 EXON Missense_T294A exm2253277 17 78111877 [T/C] NM_014740 EIF4A3 Silent exm1363407 17 78111941 [T/C] NM_014740 EIF4A3 EXON Synonymous_K289K exm1363464 17 78155422 [A/G] NR_047566,NM_024110,NM_001257970 CARD14,CARD14,CARD14 EXON Silent,Missense_R62Q,Missense_R62Q exm1363468 17 78156474 [T/G] NR_047566,NM_024110,NM_001257970 CARD14,CARD14,CARD14 EXON Silent,Missense_K78N,Missense_K78N exm1363473 17 78156569 [T/C] NR_047566,NM_024110,NM_001257970 CARD14,CARD14,CARD14 EXON Silent,Missense_V110A,Missense_V110A exm1363479 17 78157811 [T/G] NR_047566,NM_024110,NM_001257970 CARD14,CARD14,CARD14 EXON Silent,Missense_L150R,Missense_L150R exm1363480 17 78157814 [A/G] NR_047566,NM_024110,NM_001257970 CARD14,CARD14,CARD14 EXON Silent,Missense_R151Q,Missense_R151Q exm1363482 17 78157888 [G/C] NR_047566,NM_024110,NM_001257970 CARD14,CARD14,CARD14 EXON Silent,Missense_D176H,Missense_D176H exm1363483 17 78157898 [A/G] NR_047566,NM_024110,NM_001257970 CARD14,CARD14,CARD14 EXON Silent,Missense_R179H,Missense_R179H exm1363487 17 78157951 [A/G] NR_047566,NM_024110,NM_001257970 CARD14,CARD14,CARD14 EXON Silent,Missense_E197K,Missense_E197K exm1363498 17 78162183 [T/G] NR_047566,NM_024110,NM_001257970,NM_052819 CARD14,CARD14,CARD14,CARD14 EXON Silent,Missense_L228R,Missense_L228R,Silent exm1363499 17 78162209 [A/C] NR_047566,NM_024110,NM_001257970,NM_052819 CARD14,CARD14,CARD14,CARD14 EXON Silent,Missense_N237H,Missense_N237H,Silent exm1363503 17 78162296 [T/C] NR_047566,NM_024110,NM_001257970,NM_052819 CARD14,CARD14,CARD14,CARD14 EXON Silent,Missense_R266C,Missense_R266C,Missense_R29C exm1363504 17 78162327 [A/C] NR_047566,NM_024110,NM_001257970,NM_052819 CARD14,CARD14,CARD14,CARD14 EXON Silent,Nonsense_S276X,Nonsense_S276X,Nonsense_S39X exm1363510 17 78163589 [T/C] NR_047566,NM_024110,NM_001257970,NM_052819 CARD14,CARD14,CARD14,CARD14 EXON Silent,Missense_A294V,Missense_A294V,Missense_A57V exm1363520 17 78164621 [A/G] NR_047566,NM_024110,NM_001257970,NM_052819 CARD14,CARD14,CARD14,CARD14 EXON Silent,Missense_M338V,Missense_M338V,Missense_M101V exm1363527 17 78165123 [T/C] NR_047566,NM_024110,NM_001257970,NM_052819 CARD14,CARD14,CARD14,CARD14 EXON Silent,Missense_A364V,Missense_A364V,Missense_A127V exm1363529 17 78165166 [C/G] NR_047566,NM_024110,NM_001257970,NM_052819 CARD14,CARD14,CARD14,CARD14 EXON Silent,Missense_S378R,Missense_S378R,Missense_S141R exm1363534 17 78165210 [T/C] NR_047566,NM_024110,NM_001257970,NM_052819 CARD14,CARD14,CARD14,CARD14 EXON Silent,Missense_T393M,Missense_T393M,Missense_T156M exm2253278 17 78165220 [C/G] NR_047566,NM_024110,NM_001257970,NM_052819 CARD14,CARD14,CARD14,CARD14 EXON Silent,Synonymous_V396V,Synonymous_V396V,Synonymous_V159V exm1363537 17 78165230 [T/C] NR_047566,NM_024110,NM_001257970,NM_052819 CARD14,CARD14,CARD14,CARD14 EXON Silent,Missense_R400C,Missense_R400C,Missense_R163C exm1363538 17 78165231 [A/G] NR_047566,NM_024110,NM_001257970,NM_052819 CARD14,CARD14,CARD14,CARD14 EXON Silent,Missense_R400H,Missense_R400H,Missense_R163H exm1363541 17 78166326 [A/G] NR_047566,NM_024110,NM_001257970,NM_052819 CARD14,CARD14,CARD14,CARD14 EXON Silent,Missense_E422K,Missense_E422K,Missense_E185K exm1363548 17 78168991 [G/C] NR_047566,NM_024110,NM_001257970,NM_052819 CARD14,CARD14,CARD14,CARD14 EXON Silent,Missense_S453C,Missense_S453C,Missense_S216C exm1363555 17 78169047 [T/C] NR_047566,NM_024110,NM_001257970,NM_052819 CARD14,CARD14,CARD14,CARD14 EXON Silent,Missense_R472C,Missense_R472C,Missense_R235C exm1363562 17 78169374 [T/C] NR_047566,NM_024110,NM_001257970,NM_052819 CARD14,CARD14,CARD14,CARD14 EXON Silent,Missense_P506L,Missense_P506L,Missense_P269L exm2253279 17 78169375 [A/G] NR_047566,NM_024110,NM_001257970,NM_052819 CARD14,CARD14,CARD14,CARD14 EXON Silent,Synonymous_P506P,Synonymous_P506P,Synonymous_P269P exm1363569 17 78171944 [G/C] NR_047566,NM_024110,NM_001257970,NM_052819 CARD14,CARD14,CARD14,CARD14 EXON Silent,Missense_R547S,Missense_R547S,Missense_R310S exm1363572 17 78172200 [G/C] NR_047566,NM_024110,NM_001257970,NM_052819 CARD14,CARD14,CARD14,CARD14 EXON Silent,Missense_G554A,Missense_G554A,Missense_G317A exm1363580 17 78172292 [A/G] NR_047566,NM_024110,NM_001257970,NM_052819 CARD14,CARD14,CARD14,CARD14 EXON Silent,Missense_V585I,Missense_V585I,Missense_V348I exm1363583 17 78172311 [T/C] NR_047566,NM_024110,NM_001257970,NM_052819 CARD14,CARD14,CARD14,CARD14 EXON Silent,Missense_T591M,Missense_T591M,Missense_T354M exm1363596 17 78172484 [T/C] NR_047566,NM_024110,NM_001257970,NM_052819 CARD14,CARD14,CARD14,CARD14 EXON Silent,Silent,Silent,Nonsense_R412X exm1363605 17 78175592 [T/C] NR_047566,NM_024110,NM_001257970 CARD14,CARD14,CARD14 EXON Silent,Missense_T634M,Missense_T634M exm2227422 17 78175668 [T/C] NR_047566,NM_024110,NM_001257970 CARD14,CARD14,CARD14 EXON Silent,Synonymous_D659D,Synonymous_D659D exm1363617 17 78176044 [T/C] NR_047566,NM_024110,NM_001257970 CARD14,CARD14,CARD14 EXON Silent,Missense_R682W,Missense_R682W exm1363624 17 78176140 [A/G] NR_047566,NM_024110,NM_001257970 CARD14,CARD14,CARD14 EXON Silent,Missense_G714S,Missense_G714S exm1363625 17 78176159 [A/G] NR_047566,NM_024110,NM_001257970 CARD14,CARD14,CARD14 EXON Silent,Missense_R720H,Missense_R720H exm1363636 17 78177668 [A/G] NR_047566,NM_024110 CARD14,CARD14 EXON Silent,Missense_C756Y exm1363643 17 78178062 [A/G] NR_047566,NM_024110 CARD14,CARD14 EXON Silent,Missense_V774I exm1363644 17 78178077 [A/G] NR_047566,NM_024110 CARD14,CARD14 EXON Silent,Missense_A779T exm1363660 17 78178893 [T/C] NR_047566,NM_024110 CARD14,CARD14 EXON Silent,Missense_R820W exm2253280 17 78178916 [T/C] NR_047566,NM_024110 CARD14,CARD14 EXON Silent,Synonymous_P827P exm1363673 17 78179408 [A/G] NR_047566,NM_024110 CARD14,CARD14 EXON Silent,Missense_R883H exm1363679 17 78180812 [C/G] NR_047566,NM_024110 CARD14,CARD14 EXON Silent,Missense_T912S exm1363691 17 78181951 [A/G] NR_047566,NM_024110 CARD14,CARD14 EXON Silent,Missense_R941Q exm1363698 17 78182014 [A/G] NR_047566,NM_024110 CARD14,CARD14 EXON Silent,Missense_R962Q exm1363700 17 78182048 [C/G] NR_047566,NM_024110 CARD14,CARD14 EXON Silent,Missense_D973E exm1363711 17 78184298 [T/C] NM_000199 SGSH EXON Missense_E488K exm1363716 17 78184393 [T/C] NM_000199 SGSH EXON Missense_R456H exm1363719 17 78184423 [T/C] NM_000199 SGSH EXON Missense_H446R exm1363721 17 78184438 [T/C] NM_000199 SGSH EXON Missense_R441Q exm1905011 17 78184459 [A/G] NM_000199 SGSH EXON Missense_A434V exm1363728 17 78184477 [T/C] NM_000199 SGSH EXON Missense_R428H exm1363736 17 78184578 [A/C] NM_000199 SGSH EXON Missense_M394I exm1363737 17 78184601 [T/C] NM_000199 SGSH EXON Missense_V387M exm1363740 17 78184644 [T/C] NM_000199 SGSH EXON Missense_M372I exm1363742 17 78184679 [T/C] NM_000199 SGSH EXON Missense_V361I exm1363765 17 78186067 [C/G] NM_000199 SGSH EXON Missense_G251A exm1363767 17 78187614 [T/C] NM_000199 SGSH EXON Missense_R245H exm1905026 17 78187976 [A/C] NM_000199 SGSH EXON Missense_V220L exm1363783 17 78187993 [T/G] NM_000199 SGSH EXON Missense_A214D exm2253281 17 78188100 [A/G] NM_000199 SGSH EXON Synonymous_H178H exm1905034 17 78188523 [T/G] NM_000199 SGSH EXON Missense_P133T exm1363811 17 78188911 [G/C] NM_000199 SGSH EXON Missense_H92Q exm1363814 17 78190860 [A/G] NM_000199 SGSH EXON Missense_R74C exm1363818 17 78190899 [A/G] NM_000199 SGSH EXON Missense_R61C exm1363837 17 78195493 [T/G] NM_001166349,NM_001166348,NM_001166347,NM_173626 SLC26A11,SLC26A11,SLC26A11,SLC26A11 EXON Missense_L45R,Missense_L45R,Missense_L45R,Missense_L45R exm1363844 17 78196475 [A/C] NM_001166349,NM_001166348,NM_001166347,NM_173626 SLC26A11,SLC26A11,SLC26A11,SLC26A11 EXON Missense_M86L,Missense_M86L,Missense_M86L,Missense_M86L exm1363846 17 78196511 [T/C] NM_001166349,NM_001166348,NM_001166347,NM_173626 SLC26A11,SLC26A11,SLC26A11,SLC26A11 EXON Missense_R98W,Missense_R98W,Missense_R98W,Missense_R98W exm1363862 17 78197052 [T/G] NM_001166349,NM_001166348,NM_001166347,NM_173626 SLC26A11,SLC26A11,SLC26A11,SLC26A11 EXON Synonymous_G143G,Synonymous_G143G,Synonymous_G143G,Synonymous_G143G exm1363871 17 78199666 [G/C] NM_001166349,NM_001166348,NM_001166347,NM_173626 SLC26A11,SLC26A11,SLC26A11,SLC26A11 EXON Missense_P182A,Missense_P182A,Missense_P182A,Missense_P182A exm1363872 17 78199667 [T/C] NM_001166349,NM_001166348,NM_001166347,NM_173626 SLC26A11,SLC26A11,SLC26A11,SLC26A11 EXON Missense_P182L,Missense_P182L,Missense_P182L,Missense_P182L exm2253282 17 78201674 [A/G] NM_001166349,NM_001166348,NM_001166347,NM_173626 SLC26A11,SLC26A11,SLC26A11,SLC26A11 EXON Synonymous_L217L,Synonymous_L217L,Synonymous_L217L,Synonymous_L217L exm1363887 17 78210730 [A/G] NM_001166349,NM_001166348,NM_001166347,NM_173626 SLC26A11,SLC26A11,SLC26A11,SLC26A11 EXON Missense_R247H,Missense_R247H,Missense_R247H,Missense_R247H exm1363888 17 78210735 [A/G] NM_001166349,NM_001166348,NM_001166347,NM_173626 SLC26A11,SLC26A11,SLC26A11,SLC26A11 EXON Missense_A249T,Missense_A249T,Missense_A249T,Missense_A249T exm1363891 17 78210766 [T/C] NM_001166349,NM_001166348,NM_001166347,NM_173626 SLC26A11,SLC26A11,SLC26A11,SLC26A11 EXON Missense_A259V,Missense_A259V,Missense_A259V,Missense_A259V exm1363895 17 78210810 [C/G] NM_001166349,NM_001166348,NM_001166347,NM_173626 SLC26A11,SLC26A11,SLC26A11,SLC26A11 EXON Missense_G274R,Missense_G274R,Missense_G274R,Missense_G274R exm1363900 17 78210868 [G/C] NM_001166349,NM_001166348,NM_001166347,NM_173626 SLC26A11,SLC26A11,SLC26A11,SLC26A11 EXON Missense_A293G,Missense_A293G,Missense_A293G,Missense_A293G exm1363903 17 78210883 [T/C] NM_001166349,NM_001166348,NM_001166347,NM_173626 SLC26A11,SLC26A11,SLC26A11,SLC26A11 EXON Missense_S298F,Missense_S298F,Missense_S298F,Missense_S298F exm1363908 17 78211376 [T/C] NM_001166349,NM_001166348,NM_001166347,NM_173626 SLC26A11,SLC26A11,SLC26A11,SLC26A11 EXON Missense_A323V,Missense_A323V,Missense_A323V,Missense_A323V exm1363910 17 78211385 [A/G] NM_001166349,NM_001166348,NM_001166347,NM_173626 SLC26A11,SLC26A11,SLC26A11,SLC26A11 EXON Missense_K326R,Missense_K326R,Missense_K326R,Missense_K326R exm1363918 17 78215587 [T/C] NM_001166349,NM_001166348,NM_001166347,NM_173626 SLC26A11,SLC26A11,SLC26A11,SLC26A11 EXON Missense_R335C,Missense_R335C,Missense_R335C,Missense_R335C exm1363925 17 78219012 [A/G] NM_001166349,NM_001166348,NM_001166347,NM_173626 SLC26A11,SLC26A11,SLC26A11,SLC26A11 EXON Missense_G352S,Missense_G352S,Missense_G352S,Missense_G352S exm1363928 17 78219025 [C/G] NM_001166349,NM_001166348,NM_001166347,NM_173626 SLC26A11,SLC26A11,SLC26A11,SLC26A11 EXON Missense_S356C,Missense_S356C,Missense_S356C,Missense_S356C exm1905077 17 78219960 [A/G] NM_001166349,NM_001166348,NM_001166347,NM_173626 SLC26A11,SLC26A11,SLC26A11,SLC26A11 EXON Missense_V369M,Missense_V369M,Missense_V369M,Missense_V369M exm1363942 17 78220382 [A/G] NM_001166349,NM_001166348,NM_001166347,NM_173626 SLC26A11,SLC26A11,SLC26A11,SLC26A11 EXON Missense_V410I,Missense_V410I,Missense_V410I,Missense_V410I exm1363955 17 78221988 [A/G] NM_001166349,NM_001166348,NM_001166347,NM_173626 SLC26A11,SLC26A11,SLC26A11,SLC26A11 EXON Missense_G452S,Missense_G452S,Missense_G452S,Missense_G452S exm1363963 17 78222461 [T/C] NM_001166349,NM_001166348,NM_001166347,NM_173626 SLC26A11,SLC26A11,SLC26A11,SLC26A11 EXON Missense_R504W,Missense_R504W,Missense_R504W,Missense_R504W exm1363970 17 78223030 [A/G] NM_001166349,NM_001166348,NM_001166347,NM_173626 SLC26A11,SLC26A11,SLC26A11,SLC26A11 EXON Missense_E534K,Missense_E534K,Missense_E534K,Missense_E534K exm1363973 17 78223063 [A/G] NM_001166349,NM_001166348,NM_001166347,NM_173626 SLC26A11,SLC26A11,SLC26A11,SLC26A11 EXON Missense_A545T,Missense_A545T,Missense_A545T,Missense_A545T exm1363979 17 78225140 [T/C] NM_001166349,NM_001166348,NM_001166347,NM_173626 SLC26A11,SLC26A11,SLC26A11,SLC26A11 EXON Missense_R557C,Missense_R557C,Missense_R557C,Missense_R557C exm1363982 17 78225167 [A/G] NM_001166349,NM_001166348,NM_001166347,NM_173626 SLC26A11,SLC26A11,SLC26A11,SLC26A11 EXON Missense_G566R,Missense_G566R,Missense_G566R,Missense_G566R exm1363983 17 78225175 [G/C] NM_001166349,NM_001166348,NM_001166347,NM_173626 SLC26A11,SLC26A11,SLC26A11,SLC26A11 EXON Missense_Q568H,Missense_Q568H,Missense_Q568H,Missense_Q568H exm1363995 17 78247045 [A/G] NM_001256071,NM_020954 RNF213,RNF213 EXON Missense_E35K,Missense_E35K exm1363999 17 78247087 [A/G] NM_001256071,NM_020954 RNF213,RNF213 EXON Missense_M49V,Missense_M49V exm1364002 17 78247124 [T/C] NM_001256071,NM_020954 RNF213,RNF213 EXON Missense_P61L,Missense_P61L exm1364007 17 78252686 [T/G] NM_001256071,NM_020954 RNF213,RNF213 Silent,Silent exm1364012 17 78261657 [C/G] NM_001256071,NM_020954 RNF213,RNF213 EXON Missense_S102C,Missense_S102C exm1364016 17 78261704 [T/C] NM_001256071,NM_020954 RNF213,RNF213 EXON Missense_C118R,Missense_C118R exm1364019 17 78261749 [A/C] NM_001256071,NM_020954 RNF213,RNF213 EXON Missense_L133M,Missense_L133M exm1364027 17 78261854 [A/G] NM_001256071,NM_020954 RNF213,RNF213 EXON Missense_E168K,Missense_E168K exm1364028 17 78261869 [A/C] NM_001256071,NM_020954 RNF213,RNF213 EXON Missense_P173T,Missense_P173T exm1364034 17 78261935 [A/C] NM_001256071,NM_020954 RNF213,RNF213 EXON Missense_Q195K,Missense_Q195K exm1364037 17 78261961 [C/G] NM_001256071,NM_020954 RNF213,RNF213 EXON Missense_E203D,Missense_E203D exm1364038 17 78261978 [A/T] NM_001256071,NM_020954 RNF213,RNF213 EXON Missense_I209N,Missense_I209N exm1364043 17 78262016 [A/G] NM_001256071,NM_020954 RNF213,RNF213 EXON Missense_G222S,Missense_G222S exm1364050 17 78262067 [G/C] NM_001256071,NM_020954 RNF213,RNF213 EXON Missense_Q239E,Missense_Q239E exm1364056 17 78262161 [T/C] NM_001256071,NM_020954 RNF213,RNF213 EXON Missense_M270T,Missense_M270T exm1364057 17 78262444 [A/G] NM_001256071,NM_020954 RNF213,RNF213 EXON Missense_V275I,Missense_V275I exm1364060 17 78262538 [T/C] NM_001256071,NM_020954 RNF213,RNF213 EXON Missense_F306S,Missense_F306S exm1364064 17 78263486 [T/C] NM_001256071,NM_020954 RNF213,RNF213 EXON Missense_M321T,Missense_M321T exm1364065 17 78263495 [G/C] NM_001256071,NM_020954 RNF213,RNF213 EXON Missense_A324G,Missense_A324G exm1364072 17 78264380 [T/C] NM_001256071,NM_020954 RNF213,RNF213 EXON Missense_P375L,Missense_P375L exm1364073 17 78264405 [C/G] NM_001256071,NM_020954 RNF213,RNF213 EXON Missense_F383L,Missense_F383L exm1364076 17 78264436 [A/G] NM_001256071,NM_020954 RNF213,RNF213 EXON Missense_N394D,Missense_N394D exm1364085 17 78265562 [T/G] NM_001256071,NM_020954 RNF213,RNF213 EXON Missense_Q469H,Missense_Q469H exm1364098 17 78268664 [A/C] NM_001256071,NM_020954 RNF213,RNF213 EXON Missense_S539R,Missense_S539R exm1364111 17 78269416 [A/T] NM_001256071,NM_020954 RNF213,RNF213 EXON Missense_K605N,Missense_K605N exm1364126 17 78272126 [A/G] NM_001256071,NM_020954 RNF213,RNF213 EXON Missense_R673Q,Missense_R673Q exm1364129 17 78272171 [T/C] NM_001256071,NM_020954 RNF213,RNF213 EXON Missense_T688M,Missense_T688M exm1364133 17 78272224 [T/C] NM_001256071,NM_020954 RNF213,RNF213 EXON Missense_P706S,Missense_P706S exm1364136 17 78272230 [G/C] NM_001256071,NM_020954 RNF213,RNF213 EXON Missense_H708D,Missense_H708D exm1364139 17 78272294 [T/C] NM_001256071,NM_020954 RNF213,RNF213 EXON Missense_P729L,Missense_P729L exm1905150 17 78272318 [T/C] NM_001256071,NM_020954 RNF213,RNF213 EXON Missense_T737M,Missense_T737M exm1364143 17 78280065 [C/G] NM_001256071,NM_020954 RNF213,RNF213 EXON Missense_Q742E,Missense_Q742E exm1905156 17 78280174 [T/C] NM_001256071,NM_020954 RNF213,RNF213 EXON Missense_I778T,Missense_I778T exm1364154 17 78280264 [T/C] NM_001256071,NM_020954 RNF213,RNF213 EXON Missense_T808M,Missense_T808M exm1364156 17 78280949 [A/G] NM_001256071,NM_020954 RNF213,RNF213 EXON Missense_V817I,Missense_V817I exm1364158 17 78280988 [A/C] NM_001256071,NM_020954 RNF213,RNF213 EXON Missense_T830P,Missense_T830P exm1364172 17 78286875 [G/C] NM_001256071,NM_020954 RNF213,RNF213 EXON Missense_L907V,Missense_L907V exm1364175 17 78286912 [A/C] NM_001256071,NM_020954 RNF213,RNF213 EXON Missense_T919K,Missense_T919K exm1364176 17 78286919 [C/G] NM_001256071,NM_020954 RNF213,RNF213 EXON Missense_N921K,Missense_N921K exm1364180 17 78290997 [T/C] NM_001256071,NM_020954 RNF213,RNF213 EXON Missense_R941W,Missense_R941W exm1364181 17 78290998 [T/G] NM_001256071,NM_020954 RNF213,RNF213 EXON Missense_R941L,Missense_R941L exm1364198 17 78293189 [A/T] NM_001256071,NM_020954 RNF213,RNF213 EXON Silent,Missense_K1034M exm1364200 17 78293195 [T/C] NM_001256071,NM_020954 RNF213,RNF213 EXON Silent,Missense_P1036L exm1364205 17 78293222 [T/C] NM_001256071,NM_020954 RNF213,RNF213 EXON Silent,Missense_S1045L exm1364209 17 78298926 [A/G] NM_001256071 RNF213 EXON Missense_A1041T exm1364211 17 78298938 [A/G] NM_001256071 RNF213 EXON Missense_N1045D exm1364214 17 78302157 [A/C] NM_001256071 RNF213 EXON Missense_Q1133K exm1364215 17 78302164 [T/C] NM_001256071 RNF213 EXON Missense_A1135V exm1364218 17 78305871 [A/G] NM_001256071 RNF213 EXON Missense_V1195M exm2227437 17 78305896 [T/C] NM_001256071 RNF213 EXON Missense_S1203L exm1364220 17 78305989 [A/G] NM_001256071 RNF213 EXON Missense_Q1234R exm1364229 17 78306280 [A/G] NM_001256071 RNF213 EXON Missense_D1331G exm1364232 17 78307917 [A/G] NM_001256071 RNF213 EXON Missense_D1386N exm1364236 17 78308026 [C/G] NM_001256071 RNF213 EXON Missense_S1422C exm1364238 17 78310056 [G/C] NM_001256071 RNF213 EXON Missense_V1469L exm1364250 17 78313281 [A/C] NM_001256071 RNF213 EXON Missense_T1705K exm1364271 17 78314114 [T/C] NM_001256071 RNF213 EXON Missense_R1983W exm1364276 17 78316974 [T/C] NM_001256071 RNF213 EXON Missense_M2011T exm1364284 17 78317096 [A/G] NM_001256071 RNF213 EXON Missense_V2052M exm1364285 17 78317121 [T/C] NM_001256071 RNF213 EXON Missense_S2060F exm1364287 17 78317762 [A/G] NM_001256071 RNF213 EXON Missense_V2097I exm1364288 17 78317784 [C/G] NM_001256071 RNF213 EXON Missense_T2104R exm1364290 17 78317792 [T/C] NM_001256071 RNF213 EXON Missense_P2107S exm1364291 17 78317796 [T/C] NM_001256071 RNF213 EXON Missense_S2108L exm1364305 17 78318686 [A/G] NM_001256071 RNF213 EXON Missense_Q2184R exm1364308 17 78318781 [T/C] NM_001256071 RNF213 EXON Missense_R2216W exm1364315 17 78318989 [C/G] NM_001256071 RNF213 EXON Missense_R2285T exm1364321 17 78319114 [A/G] NM_001256071 RNF213 EXON Missense_N2327D exm1364327 17 78319136 [A/G] NM_001256071 RNF213 EXON Missense_S2334N exm1364338 17 78319438 [A/G] NM_001256071 RNF213 EXON Missense_D2435N exm1364342 17 78319463 [T/C] NM_001256071 RNF213 EXON Missense_A2443V exm1364347 17 78319552 [A/G] NM_001256071 RNF213 EXON Missense_A2473T exm1905204 17 78319718 [A/G] NM_001256071 RNF213 EXON Missense_R2528Q exm1364356 17 78319795 [A/G] NM_001256071 RNF213 EXON Missense_D2554N exm1364363 17 78319966 [A/G] NM_001256071 RNF213 EXON Missense_G2611R exm1364376 17 78320219 [T/C] NM_001256071 RNF213 EXON Missense_A2695V exm1364377 17 78320245 [T/C] NM_001256071 RNF213 EXON Missense_R2704W exm1364382 17 78320284 [A/G] NM_001256071 RNF213 EXON Missense_D2717N exm1364389 17 78320404 [A/G] NM_001256071 RNF213 EXON Missense_V2757I exm1364395 17 78320491 [A/G] NM_001256071 RNF213 EXON Missense_M2786V exm1364431 17 78321108 [T/G] NM_001256071 RNF213 EXON Missense_D2991E exm1364432 17 78321151 [A/G] NM_001256071 RNF213 EXON Missense_A3006T exm1364433 17 78321157 [T/C] NM_001256071 RNF213 EXON Missense_C3008R exm1364436 17 78321224 [T/C] NM_001256071 RNF213 EXON Missense_P3030L exm1364456 17 78321614 [A/G] NM_001256071 RNF213 EXON Missense_H3160R exm1364468 17 78321862 [A/G] NM_001256071 RNF213 EXON Missense_T3243A exm1364471 17 78321904 [A/G] NM_001256071 RNF213 EXON Missense_I3257V exm1364484 17 78323570 [A/G] NM_001256071 RNF213 EXON Missense_I3318V exm1364495 17 78325483 [A/G] NM_001256071 RNF213 Silent exm1905216 17 78325568 [T/C] NM_001256071 RNF213 EXON Missense_V3423A exm1364511 17 78327330 [T/C] NM_001256071,NR_029376 RNF213,LOC100294362 EXON Missense_A3481V,Silent exm1364513 17 78327338 [A/G] NM_001256071,NR_029376 RNF213,LOC100294362 EXON Missense_G3484S,Silent exm1364517 17 78327375 [T/C] NM_001256071,NR_029376 RNF213,LOC100294362 EXON Missense_S3496L,Silent exm1364523 17 78327876 [A/G] NM_001256071,NR_029376 RNF213,LOC100294362 EXON Missense_M3546V,Silent exm1905227 17 78328267 [T/C] NM_001256071,NR_029376 RNF213,LOC100294362 EXON Missense_R3585C,Silent exm1364533 17 78328364 [T/C] NM_001256071,NR_029376 RNF213,LOC100294362 EXON Missense_A3617V,Silent exm1364547 17 78333902 [T/C] NM_001256071,NR_029376 RNF213,LOC100294362 EXON Missense_M3699T,Silent exm1364554 17 78333998 [A/G] NM_001256071,NR_029376 RNF213,LOC100294362 EXON Missense_D3731G,Silent exm1364562 17 78336932 [A/G] NM_001256071,NR_029376 RNF213,LOC100294362 EXON Missense_R3796G,Silent exm1364570 17 78337058 [G/C] NM_001256071,NR_029376 RNF213,LOC100294362 EXON Missense_V3838L,Silent exm1364583 17 78337584 [A/G] NM_001256071,NR_029376 RNF213,LOC100294362 EXON Missense_E3915G,Silent exm1364590 17 78338303 [A/G] NM_001256071,NR_029376 RNF213,LOC100294362 EXON Missense_V3941I,Silent exm2253284 17 78341776 [A/G] NM_001256071,NR_029376 RNF213,LOC100294362 EXON Synonymous_P3996P,Silent exm1364606 17 78341776 [A/G] NM_001256071,NR_029376 RNF213,LOC100294362 EXON Synonymous_P3996P,Silent exm1364611 17 78341843 [T/C] NM_001256071,NR_029376 RNF213,LOC100294362 EXON Missense_R4019C,Silent exm1364616 17 78341936 [A/G] NM_001256071,NR_029376 RNF213,LOC100294362 EXON Missense_A4050T,Silent exm1364620 17 78343324 [T/C] NM_001256071,NR_029376 RNF213,LOC100294362 EXON Missense_R4060C,Silent exm1364626 17 78343634 [A/G] NM_001256071,NR_029376 RNF213,LOC100294362 EXON Missense_R4131H,Silent exm1364628 17 78345744 [A/G] NM_001256071,NR_029376 RNF213,LOC100294362 EXON Missense_D4166N,Silent exm2253285 17 78346449 [A/G] NM_001256071,NR_029376 RNF213,LOC100294362 EXON Synonymous_S4222S,Silent exm1364636 17 78346531 [A/C] NM_001256071,NR_029376 RNF213,LOC100294362 EXON Missense_P4250T,Silent exm1364638 17 78346779 [A/G] NM_001256071,NR_029376 RNF213,LOC100294362 EXON Missense_M4252I,Silent exm1364639 17 78346792 [G/C] NM_001256071,NR_029376 RNF213,LOC100294362 EXON Missense_Q4257E,Silent exm1364642 17 78346840 [A/G] NM_001256071,NR_029376 RNF213,LOC100294362 EXON Missense_D4273N,Silent exm1364644 17 78346852 [T/G] NM_001256071,NR_029376 RNF213,LOC100294362 EXON Missense_V4277L,Silent exm1364645 17 78346870 [A/C] NM_001256071,NR_029376 RNF213,LOC100294362 EXON Missense_L4283I,Silent exm1364647 17 78346897 [A/G] NM_001256071,NR_029376 RNF213,LOC100294362 EXON Missense_V4292M,Silent exm1364652 17 78348265 [A/G] NM_001256071,NR_029376 RNF213,LOC100294362 EXON Missense_R4317Q,Silent exm1364653 17 78348287 [A/G] NM_001256071,NR_029376 RNF213,LOC100294362 EXON Missense_M4324I,Silent exm1364658 17 78348389 [A/G] NM_001256071,NR_029376 RNF213,LOC100294362 EXON Synonymous_K4358K,Silent exm-rs6565681 17 78348494 [A/G] NM_001256071,NR_029376 RNF213,LOC100294362 Silent,Silent exm1364662 17 78349572 [T/C] NM_001256071,NR_029376 RNF213,LOC100294362 EXON Missense_P4363S,Silent exm1364672 17 78350110 [A/G] NM_001256071,NR_029376 RNF213,LOC100294362 EXON Missense_A4399T,Silent exm1364676 17 78350165 [A/G] NM_001256071,NR_029376 RNF213,LOC100294362 EXON Missense_R4417H,Silent exm1364681 17 78350272 [A/G] NM_001256071,NR_029376 RNF213,LOC100294362 EXON Missense_V4453I,Silent exm1364687 17 78350762 [C/G] NM_001256071,NR_029376 RNF213,LOC100294362 EXON Nonsense_Y4503X,Silent exm1364693 17 78351588 [A/G] NM_001256071,NR_029376 RNF213,LOC100294362 EXON Missense_V4513M,Silent exm1364696 17 78353450 [A/G] NM_001256071,NR_029376 RNF213,LOC100294362 EXON Missense_I4526V,Silent exm1364697 17 78353463 [T/C] NM_001256071,NR_029376 RNF213,LOC100294362 EXON Missense_A4530V,Silent exm1364699 17 78353466 [T/C] NM_001256071,NR_029376 RNF213,LOC100294362 EXON Missense_P4531L,Silent exm1364700 17 78353478 [T/C] NM_001256071,NR_029376 RNF213,LOC100294362 EXON Missense_I4535T,Silent exm1364703 17 78354689 [A/G] NM_001256071,NR_029376 RNF213,LOC100294362 EXON Missense_V4567M,Silent exm1364705 17 78354738 [A/G] NM_001256071,NR_029376 RNF213,LOC100294362 EXON Missense_R4583Q,Silent exm1364707 17 78354756 [T/C] NM_001256071,NR_029376 RNF213,LOC100294362 EXON Missense_A4589V,Silent exm1364712 17 78355462 [T/C] NM_001256071,NR_029376 RNF213,LOC100294362 EXON Missense_T4638I,Silent exm1364715 17 78355494 [G/C] NM_001256071,NR_029376 RNF213,LOC100294362 EXON Missense_L4649V,Silent exm1364717 17 78356830 [T/G] NM_001256071,NR_029376 RNF213,LOC100294362 EXON Missense_W4677L,Silent exm1364719 17 78357478 [A/G] NM_001256071,NR_029376 RNF213,LOC100294362 EXON Missense_H4691R,Silent exm1364727 17 78357600 [A/G] NM_001256071,NR_029376 RNF213,LOC100294362 EXON Missense_K4732E,Silent exm1364728 17 78357601 [A/C] NM_001256071,NR_029376 RNF213,LOC100294362 EXON Missense_K4732T,Silent exm1364733 17 78358926 [G/C] NM_001256071,NR_029376 RNF213,LOC100294362 EXON Missense_V4804L,Silent exm1364734 17 78358958 [G/C] NM_001256071,NR_029376 RNF213,LOC100294362 EXON Missense_S4814R,Silent exm1364737 17 78359407 [T/C] NM_001256071,NR_029376 RNF213,LOC100294362 EXON Missense_S4842L,Silent exm1364739 17 78359420 [T/C] NM_001256071,NR_029376 RNF213,LOC100294362 EXON Synonymous_N4846N,Silent exm1364748 17 78360176 [A/G] NM_001256071,NR_029376 RNF213,LOC100294362 EXON Missense_R4889H,Silent exm1364749 17 78360187 [G/C] NM_001256071,NR_029376 RNF213,LOC100294362 EXON Missense_E4893Q,Silent exm1364752 17 78360211 [T/C] NM_001256071,NR_029376 RNF213,LOC100294362 EXON Missense_L4901F,Silent exm1364775 17 78363091 [T/G] NM_001256071,NR_029376 RNF213,LOC100294362 EXON Missense_G5040V,Silent exm1364798 17 78363978 [A/G] NM_001256071,NR_029376 RNF213,LOC100294362 EXON Missense_R5151H,Silent exm1364800 17 78367161 [A/G] NM_001256071,NR_029376 RNF213,LOC100294362 EXON Missense_V5163I,Silent exm1364801 17 78367214 [T/G] NM_001256071,NR_029376 RNF213,LOC100294362 EXON Missense_Q5180H,Silent exm1364802 17 78367225 [A/C] NM_001256071,NR_029376 RNF213,LOC100294362 EXON Missense_E5184A,Silent exm1364814 17 78389020 [T/C] NM_001164638,NM_173627,NM_001164637 ENDOV,ENDOV,ENDOV EXON Missense_P9L,Missense_P9L,Missense_P9L exm1364817 17 78389460 [T/C] NM_001164638,NM_173627,NM_001164637 ENDOV,ENDOV,ENDOV EXON Missense_R23W,Missense_R23W,Missense_R23W exm1364819 17 78389478 [A/G] NM_001164638,NM_173627,NM_001164637 ENDOV,ENDOV,ENDOV EXON Missense_V29I,Missense_V29I,Missense_V29I exm1364822 17 78389554 [A/C] NM_001164638,NM_173627,NM_001164637 ENDOV,ENDOV,ENDOV EXON Missense_S54Y,Missense_S54Y,Missense_S54Y exm1364834 17 78395694 [T/C] NM_001164638,NM_173627,NM_001164637 ENDOV,ENDOV,ENDOV EXON Silent,Nonsense_R99X,Silent exm1364838 17 78395734 [A/G] NM_001164638,NM_173627,NM_001164637 ENDOV,ENDOV,ENDOV EXON Silent,Missense_R112Q,Silent exm1364842 17 78396004 [A/G] NM_001164638,NM_173627,NM_001164637 ENDOV,ENDOV,ENDOV Silent,Silent,Silent exm1364843 17 78396031 [T/C] NM_001164638,NM_173627,NM_001164637 ENDOV,ENDOV,ENDOV EXON Missense_V85A,Missense_V130A,Missense_V85A exm1364844 17 78397337 [T/C] NM_001164638,NM_173627,NM_001164637 ENDOV,ENDOV,ENDOV EXON Missense_H96Y,Missense_H141Y,Missense_H96Y exm1364852 17 78398835 [T/C] NM_001164638,NM_173627,NM_001164637 ENDOV,ENDOV,ENDOV EXON Nonsense_R129X,Nonsense_R174X,Nonsense_R129X exm1364853 17 78398836 [A/G] NM_001164638,NM_173627,NM_001164637 ENDOV,ENDOV,ENDOV EXON Missense_R129Q,Missense_R174Q,Missense_R129Q exm1364857 17 78399307 [A/G] NM_001164638,NM_173627,NM_001164637 ENDOV,ENDOV,ENDOV EXON Missense_D156N,Missense_D201N,Missense_D156N exm1364860 17 78399353 [T/G] NM_001164638,NM_173627,NM_001164637 ENDOV,ENDOV,ENDOV EXON Missense_S171I,Missense_S216I,Missense_S171I exm1364864 17 78399412 [A/G] NM_001164638,NM_173627,NM_001164637 ENDOV,ENDOV,ENDOV EXON Missense_V191M,Missense_V236M,Missense_V191M exm1364867 17 78402423 [T/C] NM_001164638,NM_173627,NM_001164637 ENDOV,ENDOV,ENDOV EXON Missense_R203C,Missense_R248C,Missense_R203C exm2274986 17 78444672 [T/C] NM_002522 NPTX1 EXON Missense_I414V exm1364884 17 78444677 [T/G] NM_002522 NPTX1 EXON Missense_S412Y exm1364887 17 78444714 [T/C] NM_002522 NPTX1 EXON Missense_K400E exm1364888 17 78444750 [A/G] NM_002522 NPTX1 EXON Missense_P388S exm1364905 17 78447050 [C/G] NM_002522 NPTX1 EXON Missense_V283L exm1364911 17 78447106 [A/G] NM_002522 NPTX1 EXON Missense_T264M exm1364913 17 78447229 [T/C] NM_002522 NPTX1 EXON Missense_R223H exm1364926 17 78449508 [A/C] NM_002522 NPTX1 EXON Missense_R152L exm1364955 17 78599592 [T/C] NM_001163034,NM_020761 RPTOR,RPTOR EXON Synonymous_I88I,Synonymous_I88I exm1364972 17 78727819 [A/G] NM_001163034,NM_020761 RPTOR,RPTOR EXON Missense_I222V,Missense_I222V exm-rs2589133 17 78793476 [A/G] NM_001163034,NM_020761 RPTOR,RPTOR Silent,Silent exm1364994 17 78820374 [A/G] NM_001163034,NM_020761 RPTOR,RPTOR EXON Synonymous_Q438Q,Synonymous_Q438Q exm2260714 17 78829069 [A/C] NM_001163034,NM_020761 RPTOR,RPTOR Silent,Silent exm1365002 17 78831700 [T/C] NM_001163034,NM_020761 RPTOR,RPTOR EXON Synonymous_S503S,Synonymous_S503S exm2272563 17 78848856 [T/C] NM_001163034,NM_020761 RPTOR,RPTOR Silent,Silent exm1365004 17 78854273 [T/C] NM_001163034,NM_020761 RPTOR,RPTOR EXON Silent,Missense_A523V exm1365032 17 78858839 [T/C] NM_001163034,NM_020761 RPTOR,RPTOR EXON Silent,Missense_T625M exm1365034 17 78858844 [A/G] NM_001163034,NM_020761 RPTOR,RPTOR EXON Silent,Missense_V627M exm1365059 17 78867557 [A/G] NM_001163034,NM_020761 RPTOR,RPTOR EXON Missense_A607T,Missense_A765T exm1365076 17 78896587 [A/G] NM_001163034,NM_020761 RPTOR,RPTOR EXON Missense_A704T,Missense_A862T exm2227446 17 78899251 [A/G] NM_001163034,NM_020761 RPTOR,RPTOR EXON Missense_A806T,Missense_A964T exm1365103 17 78914365 [T/C] NM_001163034,NM_020761 RPTOR,RPTOR EXON Missense_R839C,Missense_R997C exm1365141 17 78935270 [A/G] NM_001163034,NM_020761 RPTOR,RPTOR EXON Missense_V1070M,Missense_V1228M exm1365145 17 78936266 [A/G] NM_001163034,NM_020761 RPTOR,RPTOR EXON Missense_N1075S,Missense_N1233S exm1365151 17 78936760 [A/G] NM_001163034,NM_020761 RPTOR,RPTOR EXON Missense_N1123S,Missense_N1281S exm1365197 17 78971130 [A/G] NM_024591 CHMP6 EXON Missense_A162T exm1365198 17 78971133 [A/G] NM_024591 CHMP6 EXON Missense_I163V exm1365209 17 78972916 [A/C] NM_024591 CHMP6 EXON Missense_A190D exm1365210 17 78972930 [T/G] NM_024591 CHMP6 EXON Missense_A195S exm2272564 17 78988362 [T/G] exm1365243 17 79060247 [T/C] NM_001144888,NM_017451,NM_017450,NM_006340 BAIAP2,BAIAP2,BAIAP2,BAIAP2 EXON Missense_A119V,Missense_A119V,Missense_A119V,Missense_A119V exm1365260 17 79077377 [A/G] NM_001144888,NM_017451,NM_017450,NM_006340 BAIAP2,BAIAP2,BAIAP2,BAIAP2 EXON Missense_A240T,Missense_A240T,Missense_A240T,Missense_A240T exm1365272 17 79077746 [A/G] NM_001144888,NM_017451,NM_017450,NM_006340 BAIAP2,BAIAP2,BAIAP2,BAIAP2 EXON Missense_V302I,Missense_V302I,Missense_V302I,Missense_V302I exm1365277 17 79077834 [A/G] NM_001144888,NM_017451,NM_017450,NM_006340 BAIAP2,BAIAP2,BAIAP2,BAIAP2 EXON Missense_S331N,Missense_S331N,Missense_S331N,Missense_S331N exm2227448 17 79080586 [A/C] NM_001144888,NM_017451,NM_017450,NM_006340 BAIAP2,BAIAP2,BAIAP2,BAIAP2 EXON Missense_D460A,Missense_D460A,Missense_D460A,Missense_D460A exm1365303 17 79080597 [A/C] NM_001144888,NM_017451,NM_017450,NM_006340 BAIAP2,BAIAP2,BAIAP2,BAIAP2 EXON Missense_L464M,Missense_L464M,Missense_L464M,Missense_L464M exm1365330 17 79084715 [A/G] NM_001144888,NM_017451,NM_006340 BAIAP2,BAIAP2,BAIAP2 EXON Silent,Silent,Missense_A513T exm1365334 17 79089590 [A/G] NM_001144888,NM_017451,NM_006340 BAIAP2,BAIAP2,BAIAP2 EXON Missense_Q519R,Missense_Q519R,Silent exm1365344 17 79090061 [T/C] NM_001144888,NM_017451,NM_006340 BAIAP2,BAIAP2,BAIAP2 EXON Silent,Missense_R539W,Silent exm1365347 17 79090097 [A/G] NM_001144888,NM_017451,NM_006340 BAIAP2,BAIAP2,BAIAP2 EXON Silent,Missense_G551R,Silent exm1365362 17 79093324 [T/C] NM_004920,NM_001080395 AATK,AATK EXON Missense_A1211T,Missense_A1314T exm1365383 17 79094122 [T/C] NM_004920,NM_001080395 AATK,AATK EXON Missense_R1102H,Missense_R1205H exm1365385 17 79094162 [A/G] NM_004920,NM_001080395 AATK,AATK EXON Missense_P1089S,Missense_P1192S exm1365400 17 79094438 [A/C] NM_004920,NM_001080395 AATK,AATK EXON Missense_F997V,Missense_F1100V exm1365405 17 79094672 [T/C] NM_004920,NM_001080395 AATK,AATK EXON Missense_G919R,Missense_G1022R exm1365411 17 79094836 [A/G] NM_004920,NM_001080395 AATK,AATK EXON Missense_A864V,Missense_A967V exm1365426 17 79095085 [A/G] NM_004920,NM_001080395 AATK,AATK EXON Missense_P781L,Missense_P884L exm1365443 17 79095341 [T/C] NM_004920,NM_001080395 AATK,AATK EXON Missense_V696I,Missense_V799I exm1365446 17 79095359 [T/G] NM_004920,NM_001080395 AATK,AATK EXON Missense_R690S,Missense_R793S exm1365463 17 79095629 [A/C] NM_004920,NM_001080395 AATK,AATK EXON Missense_G600C,Missense_G703C exm1365466 17 79095671 [T/C] NM_004920,NM_001080395 AATK,AATK EXON Missense_G586S,Missense_G689S exm1365468 17 79095707 [A/G] NM_004920,NM_001080395 AATK,AATK EXON Missense_H574Y,Missense_H677Y exm1365474 17 79095841 [T/G] NM_004920,NM_001080395 AATK,AATK EXON Missense_A529D,Missense_A632D exm1365488 17 79096115 [T/C] NM_004920,NM_001080395 AATK,AATK EXON Missense_A438T,Missense_A541T exm1365517 17 79098773 [A/G] NM_004920,NM_001080395 AATK,AATK EXON Missense_T163M,Missense_T266M exm1365519 17 79098814 [A/G] NM_004920,NM_001080395 AATK,AATK EXON Synonymous_S149S,Synonymous_S252S exm1365558 17 79104945 [T/C] NM_004920,NM_001080395 AATK,AATK EXON Silent,Missense_T84A exm1365561 17 79104969 [T/C] NM_004920,NM_001080395 AATK,AATK EXON Silent,Missense_D76N exm1365567 17 79104992 [A/G] NM_004920,NM_001080395 AATK,AATK EXON Silent,Missense_A68V exm2227456 17 79108182 [T/C] NM_001080395 AATK EXON Missense_G59S exm1365626 17 79163758 [A/G] NM_001009811,NM_014984 AZI1,AZI1 EXON Missense_A1006V,Missense_A1042V exm1365649 17 79164853 [T/C] NM_001009811,NM_014984 AZI1,AZI1 EXON Missense_E897K,Missense_E933K exm1365651 17 79164871 [A/G] NM_001009811,NM_014984 AZI1,AZI1 EXON Missense_R891W,Missense_R927W exm1365660 17 79165016 [C/G] NM_001009811,NM_014984 AZI1,AZI1 EXON Missense_E878D,Missense_E914D exm1365663 17 79165116 [T/C] NM_001009811,NM_014984 AZI1,AZI1 EXON Missense_R845Q,Missense_R881Q exm1365671 17 79166166 [A/C] NM_001009811,NM_014984 AZI1,AZI1 EXON Missense_Q822H,Missense_Q858H exm1365689 17 79166597 [A/G] NM_001009811,NM_014984 AZI1,AZI1 EXON Silent,Missense_R790W exm1365690 17 79166600 [A/G] NM_001009811,NM_014984 AZI1,AZI1 EXON Silent,Nonsense_Q789X exm1365699 17 79167873 [A/C] NM_001009811,NM_014984 AZI1,AZI1 EXON Missense_R725M,Missense_R725M exm1365704 17 79168672 [T/C] NM_001009811,NM_014984 AZI1,AZI1 EXON Missense_R706Q,Missense_R706Q exm1365705 17 79168723 [T/C] NM_001009811,NM_014984 AZI1,AZI1 EXON Missense_R689Q,Missense_R689Q exm1365706 17 79168727 [A/G] NM_001009811,NM_014984 AZI1,AZI1 EXON Missense_R688C,Missense_R688C exm1365716 17 79169666 [T/C] NM_001009811,NM_014984 AZI1,AZI1 EXON Missense_R662H,Missense_R662H exm1365719 17 79169670 [T/C] NM_001009811,NM_014984 AZI1,AZI1 EXON Missense_E661K,Missense_E661K exm1365724 17 79169727 [T/C] NM_001009811,NM_014984 AZI1,AZI1 EXON Missense_S642G,Missense_S642G exm1365728 17 79170578 [T/C] NM_001009811,NM_014984 AZI1,AZI1 EXON Missense_A608T,Missense_A608T exm1365736 17 79170734 [A/G] NM_001009811,NM_014984 AZI1,AZI1 EXON Missense_A590V,Missense_A590V exm1365740 17 79170789 [A/G] NM_001009811,NM_014984 AZI1,AZI1 EXON Missense_R572W,Missense_R572W exm1365746 17 79171622 [T/C] NM_001009811,NM_014984 AZI1,AZI1 EXON Missense_E513K,Missense_E513K exm1905728 17 79171929 [A/C] NM_001009811,NM_014984 AZI1,AZI1 EXON Missense_A486S,Missense_A486S exm1365758 17 79171959 [A/G] NM_001009811,NM_014984 AZI1,AZI1 EXON Missense_R476C,Missense_R476C exm1365760 17 79171967 [A/G] NM_001009811,NM_014984 AZI1,AZI1 EXON Missense_V473A,Missense_V473A exm1365765 17 79172048 [A/G] NM_001009811,NM_014984 AZI1,AZI1 EXON Missense_P446L,Missense_P446L exm1365771 17 79172706 [A/G] NM_001009811,NM_014984 AZI1,AZI1 EXON Missense_P420S,Missense_P420S exm1365772 17 79172711 [A/G] NM_001009811,NM_014984 AZI1,AZI1 EXON Missense_P418L,Missense_P418L exm1365778 17 79172739 [A/G] NM_001009811,NM_014984 AZI1,AZI1 EXON Missense_R409C,Missense_R409C exm1365786 17 79173280 [A/G] NM_001009811,NM_014984 AZI1,AZI1 EXON Missense_P365S,Missense_P365S exm1365788 17 79173301 [T/C] NM_001009811,NM_014984 AZI1,AZI1 EXON Missense_E358K,Missense_E358K exm1365801 17 79174181 [T/C] NM_001009811,NM_014984 AZI1,AZI1 EXON Missense_R285Q,Missense_R285Q exm1365802 17 79174182 [A/G] NM_001009811,NM_014984 AZI1,AZI1 EXON Missense_R285W,Missense_R285W exm1365804 17 79174221 [T/C] NM_001009811,NM_014984 AZI1,AZI1 EXON Missense_T272A,Missense_T272A exm1365805 17 79174223 [T/G] NM_001009811,NM_014984 AZI1,AZI1 EXON Missense_A271D,Missense_A271D exm1365812 17 79176071 [A/G] NM_001009811,NM_014984 AZI1,AZI1 EXON Missense_R253W,Missense_R253W exm1365817 17 79176110 [T/C] NM_001009811,NM_014984 AZI1,AZI1 EXON Missense_A240T,Missense_A240T exm1365818 17 79176115 [T/C] NM_001009811,NM_014984 AZI1,AZI1 EXON Missense_H238R,Missense_H238R exm1365820 17 79176142 [A/G] NM_001009811,NM_014984 AZI1,AZI1 EXON Missense_L229P,Missense_L229P exm1365824 17 79177324 [T/C] NM_001009811,NM_014984 AZI1,AZI1 EXON Missense_K200R,Missense_K200R exm1365825 17 79177330 [A/G] NM_001009811,NM_014984 AZI1,AZI1 EXON Missense_P198L,Missense_P198L exm1365827 17 79177358 [A/G] NM_001009811,NM_014984 AZI1,AZI1 EXON Missense_R189C,Missense_R189C exm1365843 17 79180632 [A/G] NM_001009811,NM_014984 AZI1,AZI1 EXON Missense_R143W,Missense_R143W exm1365844 17 79180659 [A/G] NM_001009811,NM_014984 AZI1,AZI1 EXON Missense_R134W,Missense_R134W exm1365855 17 79181034 [A/G] NM_001009811,NM_014984 AZI1,AZI1 EXON Missense_T93M,Missense_T93M exm1365857 17 79182738 [T/C] NM_001009811,NM_014984 AZI1,AZI1 EXON Missense_G88S,Missense_G88S exm1365866 17 79182797 [T/C] NM_001009811,NM_014984 AZI1,AZI1 EXON Missense_Q68R,Missense_Q68R exm1365867 17 79182800 [A/G] NM_001009811,NM_014984 AZI1,AZI1 EXON Missense_S67F,Missense_S67F exm1365877 17 79193727 [A/G] NM_001009811,NM_014984 AZI1,AZI1 EXON Missense_R44C,Missense_R44C exm1365878 17 79193730 [T/C] NM_001009811,NM_014984 AZI1,AZI1 EXON Missense_V43I,Missense_V43I exm1365879 17 79193736 [A/G] NM_001009811,NM_014984 AZI1,AZI1 EXON Missense_P41S,Missense_P41S exm1365889 17 79202732 [A/G] NM_144679 ENTHD2 EXON Missense_A525V exm1365906 17 79202937 [T/C] NM_144679 ENTHD2 EXON Missense_K457E exm1365907 17 79202948 [T/G] NM_144679 ENTHD2 EXON Missense_T453K exm1365909 17 79202963 [T/C] NM_144679 ENTHD2 EXON Missense_R448Q exm1365915 17 79203045 [T/C] NM_144679 ENTHD2 EXON Missense_D421N exm1365917 17 79203074 [T/G] NM_144679 ENTHD2 EXON Missense_P411Q exm1365920 17 79203114 [G/C] NM_144679 ENTHD2 EXON Missense_P398A exm1365925 17 79204405 [T/C] NM_144679 ENTHD2 EXON Missense_R323Q exm1365931 17 79205205 [A/G] NM_144679 ENTHD2 EXON Missense_T296M exm1365938 17 79205421 [A/G] NM_144679 ENTHD2 EXON Missense_R258C exm1365957 17 79205783 [T/C] NM_144679 ENTHD2 EXON Missense_D189N exm1365970 17 79207286 [T/C] NM_144679 ENTHD2 EXON Missense_R158G exm1365971 17 79207294 [A/G] NM_144679 ENTHD2 EXON Missense_S155F exm1365975 17 79207455 [A/C] NM_144679 ENTHD2 EXON Missense_G146V exm1366004 17 79211237 [A/G] NM_144679 ENTHD2 EXON Missense_T24M exm1366047 17 79219621 [A/G] NM_001037984 SLC38A10 EXON Missense_P1032L exm1366057 17 79219873 [A/G] NM_001037984 SLC38A10 EXON Missense_A948V exm1366080 17 79220237 [A/G] NM_001037984 SLC38A10 EXON Missense_R827W exm1366083 17 79220258 [T/C] NM_001037984 SLC38A10 EXON Missense_G820S exm1366084 17 79220333 [A/G] NM_001037984 SLC38A10 EXON Missense_S795P exm1366101 17 79225040 [T/C] NM_001037984,NM_138570 SLC38A10,SLC38A10 EXON Silent,Missense_R773H exm1366108 17 79225092 [G/C] NM_001037984,NM_138570 SLC38A10,SLC38A10 EXON Silent,Missense_A756P exm1366109 17 79225148 [T/C] NM_001037984,NM_138570 SLC38A10,SLC38A10 EXON Silent,Missense_R737Q exm1366124 17 79226001 [T/C] NM_001037984,NM_138570 SLC38A10,SLC38A10 EXON Missense_D647N,Missense_D647N exm1366138 17 79226189 [T/C] NM_001037984,NM_138570 SLC38A10,SLC38A10 EXON Missense_D584G,Missense_D584G exm1366143 17 79226264 [T/C] NM_001037984,NM_138570 SLC38A10,SLC38A10 EXON Missense_K559R,Missense_K559R exm1366148 17 79226340 [A/C] NM_001037984,NM_138570 SLC38A10,SLC38A10 EXON Missense_V534F,Missense_V534F exm1366166 17 79226926 [T/C] NM_001037984,NM_138570 SLC38A10,SLC38A10 EXON Missense_R468Q,Missense_R468Q exm1366177 17 79234049 [A/G] NM_001037984,NM_138570 SLC38A10,SLC38A10 EXON Missense_A426V,Missense_A426V exm1366178 17 79234059 [T/C] NM_001037984,NM_138570 SLC38A10,SLC38A10 EXON Missense_V423M,Missense_V423M exm1366179 17 79234074 [T/C] NM_001037984,NM_138570 SLC38A10,SLC38A10 EXON Missense_E418K,Missense_E418K exm1366186 17 79244732 [T/C] NM_001037984,NM_138570 SLC38A10,SLC38A10 EXON Missense_A373T,Missense_A373T exm1366193 17 79244807 [A/G] NM_001037984,NM_138570 SLC38A10,SLC38A10 EXON Missense_L348F,Missense_L348F exm1366202 17 79249833 [A/C] NM_001037984,NM_138570 SLC38A10,SLC38A10 EXON Missense_V283G,Missense_V283G exm2227465 17 79250836 [T/C] NM_001037984,NM_138570 SLC38A10,SLC38A10 EXON Missense_V242I,Missense_V242I exm1366219 17 79254449 [A/G] NM_001037984,NM_138570 SLC38A10,SLC38A10 EXON Missense_R196C,Missense_R196C exm2276554 17 79254485 [A/G] NM_001037984,NM_138570 SLC38A10,SLC38A10 EXON Missense_R184W,Missense_R184W exm2276555 17 79254510 [A/G] NM_001037984,NM_138570 SLC38A10,SLC38A10 EXON Synonymous_H175H,Synonymous_H175H exm1366223 17 79254530 [T/C] NM_001037984,NM_138570 SLC38A10,SLC38A10 EXON Missense_V169M,Missense_V169M exm1366229 17 79256084 [T/C] NM_001037984,NM_138570 SLC38A10,SLC38A10 EXON Missense_I136V,Missense_I136V exm1366233 17 79257223 [T/G] NM_001037984,NM_138570 SLC38A10,SLC38A10 EXON Missense_L115M,Missense_L115M exm1366234 17 79257226 [A/G] NM_001037984,NM_138570 SLC38A10,SLC38A10 EXON Missense_R114W,Missense_R114W exm1366295 17 79287477 [A/G] NM_178520 TMEM105 EXON Missense_R122W exm1366297 17 79287521 [A/G] NM_178520 TMEM105 EXON Missense_S107L exm1366298 17 79287551 [G/C] NM_178520 TMEM105 EXON Missense_G97A exm1366300 17 79287572 [T/C] NM_178520 TMEM105 EXON Missense_G90E exm1366301 17 79287596 [T/C] NM_178520 TMEM105 EXON Missense_R82Q exm1366305 17 79287657 [A/G] NM_178520 TMEM105 EXON Missense_R62W exm1366308 17 79287710 [T/C] NM_178520 TMEM105 EXON Missense_R44Q exm1366310 17 79287782 [C/G] NM_178520 TMEM105 EXON Missense_A20G exm1366357 17 79405446 [A/G] NM_001080519 BAHCC1 EXON Missense_V82M exm1366361 17 79405504 [A/G] NM_001080519 BAHCC1 EXON Missense_Y101C exm1366369 17 79408983 [A/G] NM_001080519 BAHCC1 EXON Missense_G148D exm1366391 17 79409417 [A/G] NM_001080519 BAHCC1 EXON Missense_A293T exm1366404 17 79409643 [A/G] NM_001080519 BAHCC1 EXON Missense_R368Q exm1366409 17 79409733 [G/C] NM_001080519 BAHCC1 EXON Missense_R398P exm1366416 17 79409852 [T/G] NM_001080519 BAHCC1 EXON Missense_Y438D exm1366445 17 79410861 [A/G] NM_001080519 BAHCC1 EXON Missense_A693T exm1366448 17 79410928 [T/G] NM_001080519 BAHCC1 EXON Missense_R715L exm2253290 17 79411422 [T/C] NM_001080519 BAHCC1 EXON Synonymous_R725R exm1366478 17 79412193 [A/G] NM_001080519 BAHCC1 EXON Missense_A887T exm1366483 17 79412465 [A/C] NM_001080519 BAHCC1 EXON Missense_T919N exm1366484 17 79412471 [T/C] NM_001080519 BAHCC1 EXON Missense_T921M exm1366528 17 79414665 [T/C] NM_001080519 BAHCC1 EXON Missense_A1201V exm2227467 17 79414724 [A/G] NM_001080519 BAHCC1 EXON Missense_D1221N exm1366537 17 79414855 [G/C] NM_001080519 BAHCC1 EXON Missense_R1264S exm1366546 17 79418882 [T/C] NM_001080519 BAHCC1 EXON Missense_P1334S exm1905988 17 79423467 [C/G] NM_001080519 BAHCC1 EXON Missense_G1517R exm1366576 17 79424516 [A/G] NM_001080519 BAHCC1 EXON Missense_T1592A exm1366596 17 79425367 [A/C] NM_001080519 BAHCC1 EXON Missense_P1685T exm1366602 17 79425442 [T/C] NM_001080519 BAHCC1 EXON Missense_R1710C exm1366609 17 79425671 [A/G] NM_001080519 BAHCC1 EXON Missense_T1735A exm1366614 17 79425714 [A/G] NM_001080519 BAHCC1 EXON Missense_R1749Q exm1366622 17 79425878 [A/G] NM_001080519 BAHCC1 EXON Missense_A1775T exm1366635 17 79426145 [A/G] NM_001080519 BAHCC1 EXON Missense_D1836N exm1366662 17 79427389 [A/G] NM_001080519 BAHCC1 EXON Missense_V1943I exm1366666 17 79427598 [A/G] NM_001080519 BAHCC1 EXON Missense_R1968Q exm1366674 17 79427684 [A/G] NM_001080519 BAHCC1 EXON Missense_E1997K exm2227469 17 79427942 [A/G] NM_001080519 BAHCC1 EXON Missense_D2030N exm1366680 17 79427946 [A/G] NM_001080519 BAHCC1 EXON Missense_H2031R exm1366683 17 79427961 [A/G] NM_001080519 BAHCC1 EXON Missense_R2036H exm1366689 17 79428068 [A/G] NM_001080519 BAHCC1 EXON Missense_G2072S exm1906016 17 79428143 [A/G] NM_001080519 BAHCC1 EXON Missense_G2097S exm2253291 17 79428154 [T/C] NM_001080519 BAHCC1 EXON Synonymous_A2100A exm1366700 17 79428288 [A/G] NM_001080519 BAHCC1 EXON Missense_R2145Q exm1366723 17 79428683 [A/G] NM_001080519 BAHCC1 EXON Missense_V2277M exm1366731 17 79428819 [A/G] NM_001080519 BAHCC1 EXON Missense_R2322H exm1366738 17 79428936 [A/G] NM_001080519 BAHCC1 EXON Missense_R2361H exm1366739 17 79428983 [G/C] NM_001080519 BAHCC1 EXON Missense_Q2377E exm1366742 17 79429005 [A/C] NM_001080519 BAHCC1 EXON Missense_N2384T exm1366749 17 79429896 [A/G] NM_001080519 BAHCC1 EXON Missense_R2450H exm1366758 17 79430737 [A/G] NM_001080519 BAHCC1 EXON Missense_R2519Q exm2253294 17 79478236 [T/C] NR_037688,NM_001614,NM_001199954 ACTG1,ACTG1,ACTG1 EXON Silent,Synonymous_A260A,Synonymous_A260A exm1366890 17 79495606 [A/G] NM_012418,NM_001077182 FSCN2,FSCN2 EXON Missense_V17I,Missense_V17I exm1366891 17 79495613 [T/A] NM_012418,NM_001077182 FSCN2,FSCN2 EXON Missense_D19V,Missense_D19V exm1366893 17 79495622 [A/G] NM_012418,NM_001077182 FSCN2,FSCN2 EXON Missense_R22H,Missense_R22H exm1366895 17 79495687 [T/C] NM_012418,NM_001077182 FSCN2,FSCN2 EXON Nonsense_Q44X,Nonsense_Q44X exm1366911 17 79495969 [T/C] NM_012418,NM_001077182 FSCN2,FSCN2 EXON Missense_H138Y,Missense_H138Y exm1366924 17 79496095 [T/C] NM_012418,NM_001077182 FSCN2,FSCN2 EXON Missense_R180W,Missense_R180W exm1366937 17 79496248 [T/C] NM_012418,NM_001077182 FSCN2,FSCN2 EXON Missense_P231S,Missense_P231S exm1366939 17 79496260 [A/G] NM_012418,NM_001077182 FSCN2,FSCN2 EXON Missense_A235T,Missense_A235T exm1366974 17 79502218 [A/G] NM_012418,NM_001077182 FSCN2,FSCN2 EXON Missense_A323T,Missense_A323T exm1366979 17 79503245 [A/G] NM_012418,NM_001077182 FSCN2,FSCN2 EXON Missense_V353M,Missense_V353M exm1366985 17 79503642 [T/C] NM_012418,NM_001077182 FSCN2,FSCN2 EXON Silent,Missense_P391L exm1366986 17 79503666 [C/G] NM_012418,NM_001077182 FSCN2,FSCN2 EXON Missense_T375S,Missense_T399S exm1366987 17 79503708 [T/C] NM_012418,NM_001077182 FSCN2,FSCN2 EXON Missense_L389P,Missense_L413P exm1367019 17 79508395 [G/C] NM_025161,NR_033338 C17orf70,C17orf70 EXON Missense_Q818H,Silent exm1367038 17 79512908 [T/C] NM_025161,NR_033338 C17orf70,C17orf70 EXON Missense_G725D,Silent exm1367041 17 79514028 [C/G] NM_025161,NR_033338 C17orf70,C17orf70 EXON Missense_A694P,Silent exm1906153 17 79514129 [A/G] NM_025161,NR_033338 C17orf70,C17orf70 EXON Missense_P660L,Silent exm1367052 17 79514258 [A/G] NM_025161,NR_033338 C17orf70,C17orf70 EXON Missense_S617L,Silent exm1367061 17 79514378 [T/C] NM_025161,NR_033338 C17orf70,C17orf70 EXON Missense_R577Q,Silent exm1367072 17 79514575 [T/G] NM_025161,NR_033338 C17orf70,C17orf70 EXON Missense_S511R,Silent exm1367078 17 79514675 [T/C] NM_025161,NR_033338 C17orf70,C17orf70 EXON Missense_Q478R,Silent exm1367088 17 79516266 [T/C] NM_025161,NR_033338 C17orf70,C17orf70 EXON Missense_E457K,Silent exm1367094 17 79516352 [T/C] NM_025161,NR_033338 C17orf70,C17orf70 EXON Missense_R428H,Silent exm1367099 17 79517286 [T/C] NM_025161,NR_033338 C17orf70,C17orf70 EXON Missense_R412G,Silent exm1367110 17 79517393 [A/G] NM_025161,NR_033338 C17orf70,C17orf70 EXON Missense_T376I,Silent exm1367111 17 79517402 [T/C] NM_025161,NR_033338 C17orf70,C17orf70 EXON Missense_R373Q,Silent exm1367130 17 79517729 [A/G] NM_025161,NR_033338 C17orf70,C17orf70 EXON Missense_A264V,Silent exm1367132 17 79517853 [A/C] NM_025161,NR_033338 C17orf70,C17orf70 EXON Missense_A223S,Silent exm1367135 17 79517897 [A/G] NM_025161,NR_033338 C17orf70,C17orf70 EXON Missense_P208L,Silent exm1367138 17 79517973 [T/C] NM_025161,NR_033338 C17orf70,C17orf70 EXON Missense_G183R,Silent exm1906174 17 79518074 [T/C] NM_025161,NR_033338 C17orf70,C17orf70 EXON Missense_R149Q,Silent exm1367145 17 79518110 [T/C] NM_025161,NR_033338 C17orf70,C17orf70 EXON Missense_D137G,Silent exm1367148 17 79518204 [T/C] NM_025161,NR_033338 C17orf70,C17orf70 EXON Missense_S106G,Silent exm1367156 17 79519275 [C/G] NM_025161,NR_033338 C17orf70,C17orf70 EXON Missense_V28L,Silent exm1367167 17 79526379 [A/G] NM_017921 NPLOC4 EXON Missense_T578M exm1367172 17 79526422 [C/G] NM_017921 NPLOC4 EXON Missense_P564A exm1367174 17 79526441 [A/G] NM_017921 NPLOC4 EXON Synonymous_S557S exm1367186 17 79539043 [A/G] NM_017921 NPLOC4 EXON Synonymous_D451D exm2253296 17 79564304 [T/G] NM_017921 NPLOC4 EXON Synonymous_T320T exm1367227 17 79580437 [T/C] NM_017921 NPLOC4 EXON Missense_K98R exm-rs9894429 17 79596811 [T/C] NM_017921 NPLOC4 EXON Synonymous_P12P exm1367246 17 79612022 [T/C] NM_031945 TSPAN10 EXON Missense_T14I exm1367250 17 79612085 [A/C] NM_031945 TSPAN10 EXON Missense_P35H exm1367266 17 79612382 [T/C] NM_031945 TSPAN10 EXON Missense_V134A exm1367270 17 79612414 [A/G] NM_031945 TSPAN10 EXON Missense_E145K exm1367274 17 79612495 [T/G] NM_031945 TSPAN10 EXON Missense_V172L exm1367276 17 79612541 [A/G] NM_031945 TSPAN10 EXON Missense_R187H exm1367278 17 79612580 [A/G] NM_031945 TSPAN10 EXON Missense_R200H exm1367281 17 79612606 [A/G] NM_031945 TSPAN10 EXON Missense_G209R exm1367283 17 79612621 [A/G] NM_031945 TSPAN10 EXON Missense_G214R exm1367284 17 79612633 [T/C] NM_031945 TSPAN10 EXON Missense_Y218H exm-rs9905639 17 79614154 [A/G] NM_031945 TSPAN10 Silent exm1367289 17 79614938 [A/G] NM_031945 TSPAN10 EXON Missense_N228D exm1367292 17 79614951 [T/C] NM_031945 TSPAN10 EXON Missense_P232L exm1367295 17 79614966 [A/G] NM_031945 TSPAN10 EXON Missense_C237Y exm1367296 17 79615022 [G/C] NM_031945 TSPAN10 EXON Missense_D256H exm1367318 17 79620262 [T/C] NM_002602,NR_026872 PDE6G,PDE6G EXON Missense_K25R,Silent exm1367322 17 79620335 [T/C] NM_002602,NR_026872 PDE6G,PDE6G EXON Missense_M1V,Silent exm-IND17-77230752 17 79620348 [D/I] NM_002602,NR_026872 PDE6G,PDE6G EXON exm1367328 17 79632308 [T/C] NM_001039842 OXLD1 EXON Missense_E123K exm1367340 17 79632559 [G/C] NM_001039842 OXLD1 EXON Missense_S39T exm1367343 17 79632592 [T/G] NM_001039842 OXLD1 EXON Missense_P28Q exm1367345 17 79632611 [A/C] NM_001039842 OXLD1 EXON Missense_A22S exm1367363 17 79634774 [A/T] NM_199287 CCDC137 EXON Missense_K50N exm1367370 17 79637314 [A/G] NM_199287 CCDC137 EXON Missense_A110T exm1367375 17 79637353 [A/G] NM_199287 CCDC137 EXON Missense_G123R exm1367382 17 79637484 [A/G] NM_199287 CCDC137 Silent exm1906252 17 79638784 [T/C] NM_199287 CCDC137 EXON Missense_R170W exm1367384 17 79638805 [T/C] NM_199287 CCDC137 EXON Missense_R177W exm1906253 17 79638824 [T/C] NM_199287 CCDC137 EXON Missense_A183V exm1367393 17 79639171 [A/G] NM_199287 CCDC137 EXON Missense_V216I exm1367399 17 79639550 [A/G] NM_199287 CCDC137 EXON Missense_R229Q exm1367413 17 79639724 [T/C] NM_199287 CCDC137 EXON Missense_P287L exm1367442 17 79650828 [T/G] NM_001040025 ARL16 EXON Missense_S10R exm1367456 17 79653380 [A/G] NM_004712 HGS EXON Missense_N54S exm1367463 17 79654117 [G/C] NM_004712 HGS EXON Missense_L95V exm1367488 17 79660570 [T/C] NM_004712 HGS EXON Missense_P234S exm1367496 17 79660598 [A/C] NM_004712 HGS EXON Missense_S243Y exm1367530 17 79662836 [G/C] NM_004712 HGS EXON Missense_E400D exm1367532 17 79662868 [T/C] NM_004712 HGS EXON Missense_A411V exm1367534 17 79662918 [A/G] NM_004712 HGS EXON Missense_M428V exm1367552 17 79663713 [A/G] NM_004712 HGS EXON Missense_E548G exm2227488 17 79663740 [C/G] NM_004712 HGS EXON Missense_R557P exm1367570 17 79663981 [T/C] NM_004712 HGS EXON Missense_P612L exm2272565 17 79664426 [T/C] NM_004712 HGS Silent exm1367573 17 79667505 [A/G] NM_004712 HGS EXON Missense_M631V exm1367586 17 79667728 [A/G] NM_004712 HGS EXON Missense_V674M exm1367591 17 79668135 [T/G] NM_004712 HGS EXON Missense_A733S exm1367615 17 79671332 [T/C] NM_002949 MRPL12 EXON Missense_C45R exm1367627 17 79671714 [T/C] NM_002949 MRPL12 EXON Missense_S105P exm1367640 17 79673988 [A/G] NM_002949 MRPL12 EXON Missense_R133H exm1367662 17 79682059 [T/C] NM_012140,NM_001270888,NM_001270953 SLC25A10,SLC25A10,SLC25A10 EXON Missense_I57T,Missense_I57T,Missense_I57T exm1367674 17 79682559 [A/G] NM_012140,NM_001270888,NM_001270953 SLC25A10,SLC25A10,SLC25A10 EXON Missense_V89M,Missense_V89M,Missense_V89M exm1367695 17 79683077 [A/G] NM_012140,NM_001270888,NM_001270953 SLC25A10,SLC25A10,SLC25A10 EXON Missense_R139H,Missense_R139H,Missense_R139H exm1367701 17 79683877 [T/C] NM_012140,NM_001270888,NM_001270953 SLC25A10,SLC25A10,SLC25A10 EXON Missense_A152V,Missense_A152V,Missense_A152V exm2276557 17 79683879 [T/C] NM_012140,NM_001270888,NM_001270953 SLC25A10,SLC25A10,SLC25A10 EXON Missense_R153C,Missense_R153C,Missense_R153C exm1367702 17 79683880 [A/G] NM_012140,NM_001270888,NM_001270953 SLC25A10,SLC25A10,SLC25A10 EXON Missense_R153H,Missense_R153H,Missense_R153H exm1367706 17 79684076 [T/C] NM_012140,NM_001270888,NM_001270953 SLC25A10,SLC25A10,SLC25A10 EXON Nonsense_R170X,Nonsense_R170X,Nonsense_R170X exm1906429 17 79684871 [T/A] NM_012140,NM_001270888,NM_001270953 SLC25A10,SLC25A10,SLC25A10 EXON Missense_N229Y,Missense_N238Y,Missense_E201V exm1367736 17 79767715 [A/G] NM_000160 GCGR EXON Missense_G40S exm1367737 17 79768764 [T/C] NM_000160 GCGR EXON Missense_T76M exm1367753 17 79769812 [A/G] NM_000160 GCGR EXON Missense_E290K exm1367773 17 79771503 [G/C] NM_000160 GCGR EXON Missense_D458H exm1367796 17 79792479 [A/T] NM_001007533 PPP1R27 EXON Nonsense_K81X exm1367807 17 79792783 [T/C] NM_001007533 PPP1R27 EXON Missense_R16Q exm1367816 17 79801932 [T/C] NM_000918 P4HB EXON Missense_M495V exm2227497 17 79803438 [A/G] NM_000918 P4HB EXON Missense_T453M exm1367846 17 79804328 [G/C] NM_000918 P4HB EXON Missense_R345G exm1367854 17 79804487 [T/C] NM_000918 P4HB EXON Missense_D292N exm1367860 17 79804876 [A/C] NM_000918 P4HB EXON Missense_Y268D exm1367861 17 79804891 [T/G] NM_000918 P4HB EXON Missense_K263Q exm1367863 17 79805139 [T/C] NM_000918 P4HB EXON Missense_V237I exm1367868 17 79805210 [T/C] NM_000918 P4HB EXON Missense_R213Q exm1367870 17 79813026 [A/C] NM_000918 P4HB EXON Missense_F206V exm1367875 17 79813145 [A/G] NM_000918 P4HB EXON Missense_S166L exm1367888 17 79817089 [T/C] NM_000918 P4HB EXON Missense_N107S exm1367891 17 79817128 [T/C] NM_000918 P4HB EXON Missense_Y94C exm1367915 17 79826818 [A/G] NM_004309,NM_001185078,NM_001185077 ARHGDIA,ARHGDIA,ARHGDIA EXON Synonymous_D183D,Synonymous_N139N,Synonymous_D183D exm1906521 17 79827493 [T/C] NM_004309,NM_001185078,NM_001185077 ARHGDIA,ARHGDIA,ARHGDIA EXON Missense_V67I,Missense_V67I,Missense_V67I exm2253297 17 79846210 [A/G] NM_005782 ALYREF EXON Synonymous_G229G exm1367978 17 79857137 [G/C] NM_016476,NM_001002247,NM_001002245,NM_001002244,NM_001002248,NM_001002246,NM_001002249 ANAPC11,ANAPC11,ANAPC11,ANAPC11,ANAPC11,ANAPC11,ANAPC11 EXON Silent,Silent,Silent,Missense_S43R,Silent,Silent,Silent exm1367984 17 79857229 [T/C] NM_016476,NM_001002247,NM_001002245,NM_001002244,NM_001002248,NM_001002246,NM_001002249 ANAPC11,ANAPC11,ANAPC11,ANAPC11,ANAPC11,ANAPC11,ANAPC11 EXON Silent,Silent,Silent,Missense_T74M,Silent,Silent,Silent exm1367987 17 79857328 [T/C] NM_016476,NM_001002247,NM_001002245,NM_001002244,NM_001002248,NM_001002246,NM_001002249 ANAPC11,ANAPC11,ANAPC11,ANAPC11,ANAPC11,ANAPC11,ANAPC11 EXON Silent,Silent,Silent,Missense_L107P,Silent,Silent,Silent exm1367992 17 79857387 [A/C] NM_016476,NM_001002247,NM_001002245,NM_001002244,NM_001002248,NM_001002246,NM_001002249 ANAPC11,ANAPC11,ANAPC11,ANAPC11,ANAPC11,ANAPC11,ANAPC11 EXON Silent,Silent,Silent,Missense_Q127K,Silent,Silent,Silent exm1367994 17 79857812 [T/C] NM_016476,NM_001002247,NM_001002245,NM_001002244,NM_001002248,NM_001002246,NM_001002249 ANAPC11,ANAPC11,ANAPC11,ANAPC11,ANAPC11,ANAPC11,ANAPC11 EXON Synonymous_D42D,Synonymous_D42D,Synonymous_D42D,Nonsense_R143X,Synonymous_D42D,Synonymous_D42D,Synonymous_D42D exm1368004 17 79860514 [A/G] NM_148896 NPB EXON Missense_V90I exm1906578 17 79860533 [A/G] NM_148896 NPB EXON Missense_R96K exm1368011 17 79860616 [A/G] NM_148896 NPB EXON Missense_A124T exm1368015 17 79862746 [A/G] NM_001256434,NM_001256433,NM_001184917,NM_002861,NR_033683,NR_033685,NM_001256435 PCYT2,PCYT2,PCYT2,PCYT2,PCYT2,PCYT2,PCYT2 EXON Missense_A337V,Missense_A324V,Missense_A396V,Missense_A378V,Silent,Silent,Missense_A300V exm1368017 17 79862749 [T/G] NM_001256434,NM_001256433,NM_001184917,NM_002861,NR_033683,NR_033685,NM_001256435 PCYT2,PCYT2,PCYT2,PCYT2,PCYT2,PCYT2,PCYT2 EXON Missense_Q336P,Missense_Q323P,Missense_Q395P,Missense_Q377P,Silent,Silent,Missense_Q299P exm1368019 17 79862769 [T/G] NM_001256434,NM_001256433,NM_001184917,NM_002861,NR_033683,NR_033685,NM_001256435 PCYT2,PCYT2,PCYT2,PCYT2,PCYT2,PCYT2,PCYT2 EXON Missense_F329L,Missense_F316L,Missense_F388L,Missense_F370L,Silent,Silent,Missense_F292L exm1368031 17 79863269 [T/C] NM_001256434,NM_001256433,NM_001184917,NM_002861,NR_033683,NR_033685,NM_001256435 PCYT2,PCYT2,PCYT2,PCYT2,PCYT2,PCYT2,PCYT2 EXON Missense_D279N,Missense_D266N,Missense_D338N,Missense_D320N,Silent,Silent,Missense_D242N exm1368051 17 79864761 [T/C] NM_001256434,NM_001256433,NM_001184917,NM_002861,NR_033683,NR_033685,NM_001256435 PCYT2,PCYT2,PCYT2,PCYT2,PCYT2,PCYT2,PCYT2 EXON Missense_R143Q,Missense_R130Q,Missense_R202Q,Missense_R184Q,Silent,Silent,Missense_R106Q exm1368052 17 79864767 [T/C] NM_001256434,NM_001256433,NM_001184917,NM_002861,NR_033683,NR_033685,NM_001256435 PCYT2,PCYT2,PCYT2,PCYT2,PCYT2,PCYT2,PCYT2 EXON Missense_G141D,Missense_G128D,Missense_G200D,Missense_G182D,Silent,Silent,Missense_G104D exm1368064 17 79866779 [A/G] NM_001256434,NM_001256433,NM_001184917,NM_002861,NR_033683,NR_033685,NM_001256435 PCYT2,PCYT2,PCYT2,PCYT2,PCYT2,PCYT2,PCYT2 EXON Missense_Y46H,Silent,Missense_Y105H,Missense_Y105H,Silent,Silent,Missense_Y27H exm1368068 17 79867425 [A/G] NM_001256434,NM_001256433,NM_001184917,NM_002861,NR_033683,NR_033685,NM_001256435 PCYT2,PCYT2,PCYT2,PCYT2,PCYT2,PCYT2,PCYT2 EXON Silent,Missense_M48T,Missense_M48T,Missense_M48T,Silent,Silent,Silent exm1368069 17 79867431 [T/C] NM_001256434,NM_001256433,NM_001184917,NM_002861,NR_033683,NR_033685,NM_001256435 PCYT2,PCYT2,PCYT2,PCYT2,PCYT2,PCYT2,PCYT2 EXON Silent,Missense_R46Q,Missense_R46Q,Missense_R46Q,Silent,Silent,Silent exm1368074 17 79870317 [T/C] NM_016538 SIRT7 EXON Missense_R393H exm1368101 17 79872316 [T/G] NM_016538 SIRT7 EXON Missense_T224P exm1368106 17 79872391 [T/C] NM_016538 SIRT7 EXON Missense_V199I exm1368109 17 79872517 [A/G] NM_016538 SIRT7 EXON Missense_T181M exm1368118 17 79873491 [T/C] NM_016538 SIRT7 EXON Missense_V135I exm1368149 17 79880706 [T/C] NM_032711,NM_002359 MAFG,MAFG EXON Synonymous_Q88Q,Synonymous_Q88Q exm1368154 17 79880766 [A/G] NM_032711,NM_002359 MAFG,MAFG EXON Synonymous_C68C,Synonymous_C68C exm1368176 17 79890818 [T/C] NM_153824,NM_006907 PYCR1,PYCR1 EXON Missense_G297R,Silent exm1368179 17 79891119 [T/G] NM_153824,NM_006907 PYCR1,PYCR1 EXON Silent,Missense_R311S exm2253298 17 79891147 [T/C] NM_153824,NM_006907 PYCR1,PYCR1 EXON Silent,Synonymous_S301S exm1368188 17 79891183 [T/C] NM_153824,NM_006907 PYCR1,PYCR1 EXON Synonymous_K289K,Synonymous_K289K exm1368208 17 79892802 [A/G] NM_153824,NM_006907 PYCR1,PYCR1 EXON Synonymous_Y180Y,Synonymous_Y180Y exm1368216 17 79892909 [T/C] NM_153824,NM_006907 PYCR1,PYCR1 EXON Missense_D145N,Missense_D145N exm1368223 17 79893007 [T/C] NM_153824,NM_006907 PYCR1,PYCR1 EXON Missense_R112Q,Missense_R112Q exm1368224 17 79893008 [A/G] NM_153824,NM_006907 PYCR1,PYCR1 EXON Missense_R112W,Missense_R112W exm1906668 17 79893013 [A/G] NM_153824,NM_006907 PYCR1,PYCR1 EXON Missense_A110V,Missense_A110V exm1368226 17 79893020 [C/G] NM_153824,NM_006907 PYCR1,PYCR1 EXON Missense_L108V,Missense_L108V exm1906673 17 79893278 [T/C] NM_153824,NM_006907 PYCR1,PYCR1 EXON Missense_D85N,Missense_D85N exm1368232 17 79893355 [A/G] NM_153824,NM_006907 PYCR1,PYCR1 EXON Missense_T59M,Missense_T59M exm1368236 17 79894027 [A/C] NM_153824,NM_006907 PYCR1,PYCR1 EXON Missense_M37R,Missense_M37R exm1368240 17 79898714 [A/G] NM_001145113 MYADML2 EXON Missense_R302C exm1368242 17 79898737 [T/C] NM_001145113 MYADML2 EXON Missense_D294G exm2227502 17 79898747 [A/C] NM_001145113 MYADML2 EXON Missense_Y291D exm1368245 17 79898789 [T/G] NM_001145113 MYADML2 EXON Missense_Q277K exm2277131 17 79898820 [T/G] NM_001145113 MYADML2 EXON Missense_N266K exm1368254 17 79898933 [A/G] NM_001145113 MYADML2 EXON Missense_R229W exm1368258 17 79899044 [T/C] NM_001145113 MYADML2 EXON Missense_V192M exm1368260 17 79899059 [A/G] NM_001145113 MYADML2 EXON Missense_R187C exm1368264 17 79899172 [A/G] NM_001145113 MYADML2 EXON Missense_T149M exm1368266 17 79899272 [A/G] NM_001145113 MYADML2 EXON Missense_S116P exm1368267 17 79899283 [T/C] NM_001145113 MYADML2 EXON Missense_R112Q exm1368283 17 79910911 [T/C] NM_178493 NOTUM EXON Missense_D473N exm1368285 17 79910934 [T/C] NM_178493 NOTUM EXON Missense_Q465R exm1368291 17 79911049 [T/C] NM_178493 NOTUM EXON Missense_T427A exm1368298 17 79912135 [T/C] NM_178493 NOTUM EXON Missense_R394Q exm1368321 17 79914795 [A/G] NM_178493 NOTUM EXON Missense_T284M exm1368324 17 79914822 [T/C] NM_178493 NOTUM EXON Missense_R275H exm2253300 17 79914920 [T/C] NM_178493 NOTUM EXON Synonymous_V242V exm1368327 17 79914920 [T/C] NM_178493 NOTUM EXON Synonymous_V242V exm1368333 17 79915782 [T/C] NM_178493 NOTUM EXON Missense_E199K exm1906730 17 79918593 [T/G] NM_178493 NOTUM EXON Missense_S65R exm1368364 17 79941516 [T/C] NM_024083,NM_001251888,NR_045351 ASPSCR1,ASPSCR1,ASPSCR1 EXON Missense_S82F,Missense_S82F,Silent exm1368365 17 79941544 [T/G] NM_024083,NM_001251888,NR_045351 ASPSCR1,ASPSCR1,ASPSCR1 EXON Missense_M91I,Missense_M91I,Silent exm1368368 17 79943386 [T/C] NM_024083,NM_001251888,NR_045351 ASPSCR1,ASPSCR1,ASPSCR1 EXON Missense_R93C,Missense_R93C,Silent exm1368371 17 79943404 [A/G] NM_024083,NM_001251888,NR_045351 ASPSCR1,ASPSCR1,ASPSCR1 EXON Missense_D99N,Missense_D99N,Silent exm1368373 17 79943431 [T/C] NM_024083,NM_001251888,NR_045351 ASPSCR1,ASPSCR1,ASPSCR1 EXON Missense_F108L,Missense_F108L,Silent exm2253301 17 79943475 [A/G] NM_024083,NM_001251888,NR_045351 ASPSCR1,ASPSCR1,ASPSCR1 EXON Synonymous_P122P,Synonymous_P122P,Silent exm1368407 17 79954544 [A/T] NM_024083,NM_001251888,NR_045351 ASPSCR1,ASPSCR1,ASPSCR1 EXON Missense_L252Q,Missense_L252Q,Silent exm1368412 17 79954684 [T/C] NM_024083,NM_001251888,NR_045351 ASPSCR1,ASPSCR1,ASPSCR1 EXON Missense_R299W,Missense_R299W,Silent exm1368443 17 79970157 [C/G] NM_024083,NM_001251888,NR_045351 ASPSCR1,ASPSCR1,ASPSCR1 EXON Missense_Q451E,Missense_Q451E,Silent exm1368458 17 79974370 [A/G] NM_024083,NM_001251888,NR_045351 ASPSCR1,ASPSCR1,ASPSCR1 EXON Missense_A458T,Missense_A552T,Silent exm1368465 17 79974724 [T/C] NM_024083,NM_001251888,NR_045351 ASPSCR1,ASPSCR1,ASPSCR1 EXON Missense_A485V,Missense_A579V,Silent exm1368471 17 79974815 [A/G] NM_024083,NM_001251888,NR_045351 ASPSCR1,ASPSCR1,ASPSCR1 Silent,Silent,Silent exm1368493 17 79977215 [A/G] NM_144998,NM_001271006,NM_001271007 STRA13,STRA13,STRA13 EXON Missense_A44V,Missense_A62V,Missense_A44V exm1368495 17 79977245 [T/C] NM_144998,NM_001271006,NM_001271007 STRA13,STRA13,STRA13 EXON Missense_R34H,Missense_R52H,Missense_R34H exm1368507 17 79980718 [C/G] NM_144998,NM_001271006,NM_001271007 STRA13,STRA13,STRA13 EXON Missense_G7A,Missense_G7A,Missense_G7A exm1906804 17 79983359 [T/C] NM_144999 LRRC45 EXON Missense_P213S exm1368541 17 79983365 [A/G] NM_144999 LRRC45 EXON Missense_D215N exm2253302 17 79983379 [T/C] NM_144999 LRRC45 EXON Synonymous_A219A exm1368548 17 79984843 [T/C] NM_144999 LRRC45 EXON Missense_L244F exm1368550 17 79985284 [T/C] NM_144999 LRRC45 EXON Missense_I266T exm1368569 17 79986312 [T/C] NM_144999 LRRC45 EXON Nonsense_Q389X exm1906832 17 79987501 [A/G] NM_144999 LRRC45 EXON Missense_R495H exm1368591 17 79987948 [A/G] NM_144999 LRRC45 EXON Missense_R501H exm1368602 17 79988304 [T/C] NM_144999 LRRC45 EXON Missense_L593P exm1368603 17 79988316 [T/C] NM_144999 LRRC45 EXON Missense_A597V exm1368610 17 79988661 [A/G] NM_144999 LRRC45 EXON Missense_T665A exm1368646 17 79991701 [T/C] NM_005052 RAC3 EXON Missense_F192S exm2272613 17 79993212 [T/C] exm1368652 17 79993919 [T/C] NM_016286,NM_001195218 DCXR,DCXR EXON Missense_A218T,Missense_A216T exm1368657 17 79994090 [T/C] NM_016286,NM_001195218 DCXR,DCXR EXON Missense_R203Q,Missense_R201Q exm1368663 17 79994295 [T/C] NM_016286,NM_001195218 DCXR,DCXR EXON Missense_T160A,Missense_T158A exm1368696 17 80006602 [T/G] NM_002917 RFNG EXON Missense_X332C exm1368697 17 80006619 [T/C] NM_002917 RFNG EXON Missense_A327T exm1368709 17 80006957 [A/C] NM_002917 RFNG EXON Missense_H288Q exm1368710 17 80006958 [T/C] NM_002917 RFNG EXON Missense_H288R exm1368728 17 80007836 [T/C] NM_002917 RFNG EXON Missense_C207Y exm2253303 17 80011767 [T/C] NM_212492,NM_004127 GPS1,GPS1 EXON Synonymous_S90S,Synonymous_S50S exm1368802 17 80011886 [T/C] NM_212492,NM_004127 GPS1,GPS1 EXON Missense_M130T,Missense_M90T exm1368848 17 80014196 [A/G] NM_212492,NM_004127 GPS1,GPS1 EXON Missense_V362I,Missense_V326I exm1368900 17 80017869 [T/G] NM_022156 DUS1L EXON Missense_K375Q exm1368901 17 80017898 [A/G] NM_022156 DUS1L EXON Missense_T365M exm1368914 17 80018580 [A/G] NM_022156 DUS1L EXON Missense_P340L exm1368917 17 80018613 [A/G] NM_022156 DUS1L EXON Missense_P329L exm1368990 17 80037253 [T/C] NM_004104 FASN EXON Missense_A2460T exm1369004 17 80037462 [A/C] NM_004104 FASN EXON Missense_L2390R exm1369025 17 80038687 [A/G] NM_004104 FASN EXON Missense_S2236F exm1369026 17 80038756 [T/C] NM_004104 FASN EXON Missense_Q2213R exm1369032 17 80039081 [T/C] NM_004104 FASN EXON Missense_R2185Q exm1369034 17 80039105 [T/C] NM_004104 FASN EXON Missense_R2177H exm1369047 17 80039509 [T/C] NM_004104 FASN EXON Missense_R2125Q exm1369048 17 80039510 [A/G] NM_004104 FASN EXON Missense_R2125W exm1369056 17 80039654 [T/C] NM_004104 FASN EXON Missense_D2077N exm1369069 17 80039930 [A/C] NM_004104 FASN EXON Missense_A2040S exm1369072 17 80039962 [A/G] NM_004104 FASN EXON Missense_A2029V exm1369075 17 80040034 [A/G] NM_004104 FASN EXON Missense_V2005A exm1369083 17 80040420 [T/C] NM_004104 FASN EXON Missense_V1968I exm1369087 17 80040450 [T/C] NM_004104 FASN EXON Missense_E1958K exm1369090 17 80040513 [T/C] NM_004104 FASN EXON Missense_V1937I exm1369092 17 80040521 [T/C] NM_004104 FASN EXON Missense_R1934H exm1369093 17 80040522 [A/G] NM_004104 FASN EXON Missense_R1934C exm1369094 17 80040530 [T/C] NM_004104 FASN EXON Missense_R1931Q exm1369095 17 80040534 [A/G] NM_004104 FASN EXON Missense_R1930C exm1369103 17 80040820 [T/C] NM_004104 FASN EXON Missense_V1913M exm1369109 17 80040895 [T/C] NM_004104 FASN EXON Missense_I1888V exm1369122 17 80041187 [T/C] NM_004104 FASN EXON Missense_R1819Q exm1369127 17 80041231 [T/A] NM_004104 FASN EXON Missense_S1804R exm1369136 17 80041398 [A/G] NM_004104 FASN EXON Missense_P1779L exm1369138 17 80041449 [A/G] NM_004104 FASN EXON Missense_T1762M exm1369144 17 80041514 [A/G] NM_004104 FASN EXON Synonymous_G1740G exm1369148 17 80041711 [T/C] NM_004104 FASN EXON Missense_S1719G exm1369163 17 80041950 [A/G] NM_004104 FASN EXON Missense_P1667S exm1369164 17 80041958 [T/C] NM_004104 FASN EXON Missense_R1664Q exm1369183 17 80042524 [A/G] NM_004104 FASN EXON Missense_R1545C exm1369188 17 80042577 [A/G] NM_004104 FASN EXON Missense_P1527L exm1369196 17 80042792 [T/C] NM_004104 FASN EXON Missense_V1483I exm1369217 17 80043274 [A/G] NM_004104 FASN EXON Missense_A1376V exm1369223 17 80043506 [A/G] NM_004104 FASN EXON Missense_P1325L exm1369251 17 80044375 [T/C] NM_004104 FASN EXON Missense_G1163R exm1369256 17 80044965 [T/C] NM_004104 FASN EXON Missense_E1130K exm1369267 17 80045121 [T/C] NM_004104 FASN EXON Missense_V1078M exm1369281 17 80045606 [T/C] NM_004104 FASN EXON Missense_D1000N exm1369293 17 80045881 [T/C] NM_004104 FASN EXON Missense_E939K exm1369304 17 80046058 [T/C] NM_004104 FASN EXON Missense_V907I exm1369307 17 80046084 [A/G] NM_004104 FASN EXON Missense_T898M exm1369316 17 80046266 [T/C] NM_004104 FASN EXON Missense_D865N exm1369318 17 80046280 [A/G] NM_004104 FASN EXON Missense_A860V exm1369343 17 80046963 [A/G] NM_004104 FASN EXON Missense_T729M exm1369345 17 80046994 [T/C] NM_004104 FASN EXON Missense_E719K exm1369348 17 80047029 [A/G] NM_004104 FASN EXON Missense_P707L exm1369350 17 80047048 [C/G] NM_004104 FASN EXON Missense_V701L exm1369362 17 80047552 [C/G] NM_004104 FASN EXON Missense_A641P exm1369369 17 80048271 [A/G] NM_004104 FASN EXON Missense_P617L exm1369372 17 80048284 [T/C] NM_004104 FASN EXON Missense_A613T exm1369376 17 80048347 [T/C] NM_004104 FASN EXON Missense_G592S exm1369382 17 80048811 [T/C] NM_004104 FASN EXON Missense_E543K exm1369385 17 80048859 [T/C] NM_004104 FASN EXON Missense_V527M exm1369388 17 80048873 [T/C] NM_004104 FASN EXON Missense_R522H exm1369395 17 80049125 [T/C] NM_004104 FASN EXON Missense_E489K exm1369396 17 80049154 [A/C] NM_004104 FASN EXON Missense_G479V exm1369397 17 80049179 [T/C] NM_004104 FASN EXON Missense_A471T exm1369401 17 80049206 [T/C] NM_004104 FASN EXON Missense_A462T exm1369422 17 80050420 [T/C] NM_004104 FASN EXON Missense_A314T exm1369424 17 80050597 [A/G] NM_004104 FASN EXON Synonymous_I290I exm1369430 17 80050654 [A/C] NM_004104 FASN EXON Missense_Q271H exm1369451 17 80051546 [T/C] NM_004104 FASN EXON Missense_V128M exm1369462 17 80053197 [T/C] NM_004104 FASN EXON Synonymous_G93G exm2276837 17 80053347 [A/C] NM_004104 FASN EXON Synonymous_G43G exm1369485 17 80059637 [T/C] NM_198082 CCDC57 EXON Missense_G890E exm1369490 17 80059719 [T/C] NM_198082 CCDC57 EXON Missense_D863N exm1369507 17 80085648 [G/C] NM_198082 CCDC57 EXON Missense_G828A exm1369510 17 80085703 [T/G] NM_198082 CCDC57 EXON Missense_Q810K exm1369515 17 80086389 [T/C] NM_198082 CCDC57 EXON Missense_D776N exm1369516 17 80086395 [T/C] NM_198082 CCDC57 EXON Missense_R774G exm1369520 17 80086470 [T/C] NM_198082 CCDC57 EXON Missense_A749T exm1369542 17 80121090 [A/G] NM_198082 CCDC57 EXON Nonsense_R676X exm1369547 17 80121207 [T/C] NM_198082 CCDC57 EXON Missense_G637R exm1369552 17 80129582 [A/G] NM_198082 CCDC57 EXON Missense_T626M exm1369556 17 80129601 [T/C] NM_198082 CCDC57 EXON Missense_V620I exm1369559 17 80129699 [T/C] NM_198082 CCDC57 EXON Missense_R587Q exm1369560 17 80129708 [C/G] NM_198082 CCDC57 EXON Missense_A584G exm1369565 17 80130595 [A/G] NM_198082 CCDC57 EXON Missense_P550S exm1369568 17 80136418 [T/C] NM_198082 CCDC57 EXON Missense_V480M exm1369574 17 80137043 [C/G] NM_198082 CCDC57 EXON Missense_A412P exm1369588 17 80146295 [C/G] NM_198082 CCDC57 EXON Missense_K284N exm1369589 17 80151632 [T/G] NM_198082 CCDC57 EXON Missense_K284T exm1369590 17 80151687 [A/T] NM_198082 CCDC57 EXON Nonsense_K266X exm1369594 17 80151859 [A/G] NM_198082 CCDC57 EXON Missense_R259W exm1369600 17 80151925 [C/G] NM_198082 CCDC57 EXON Missense_E237Q exm1369605 17 80151988 [T/C] NM_198082 CCDC57 EXON Missense_A216T exm1369617 17 80156213 [T/C] NM_198082 CCDC57 EXON Missense_G165S exm1369621 17 80159424 [A/G] NM_198082 CCDC57 EXON Missense_R133C exm2253304 17 80159457 [A/G] NM_198082 CCDC57 EXON Synonymous_L122L exm1369645 17 80159796 [T/C] NM_198082 CCDC57 EXON Missense_A9T exm-rs4239020 17 80176641 [T/C] exm1369654 17 80193928 [T/C] NM_001206950,NM_001042422,NM_004207,NM_001042423,NM_001206951,NM_001206952 SLC16A3,SLC16A3,SLC16A3,SLC16A3,SLC16A3,SLC16A3 EXON Missense_A15V,Missense_A15V,Missense_A15V,Missense_A15V,Missense_A15V,Missense_A15V exm2227532 17 80193972 [A/G] NM_001206950,NM_001042422,NM_004207,NM_001042423,NM_001206951,NM_001206952 SLC16A3,SLC16A3,SLC16A3,SLC16A3,SLC16A3,SLC16A3 EXON Missense_V30I,Missense_V30I,Missense_V30I,Missense_V30I,Missense_V30I,Missense_V30I exm1369661 17 80194008 [A/G] NM_001206950,NM_001042422,NM_004207,NM_001042423,NM_001206951,NM_001206952 SLC16A3,SLC16A3,SLC16A3,SLC16A3,SLC16A3,SLC16A3 EXON Missense_V42I,Missense_V42I,Missense_V42I,Missense_V42I,Missense_V42I,Missense_V42I exm1369670 17 80194650 [T/C] NM_001206950,NM_001042422,NM_004207,NM_001042423,NM_001206951,NM_001206952 SLC16A3,SLC16A3,SLC16A3,SLC16A3,SLC16A3,SLC16A3 EXON Missense_V90A,Missense_V90A,Missense_V90A,Missense_V90A,Missense_V90A,Missense_V90A exm1369680 17 80195062 [A/G] NM_001206950,NM_001042422,NM_004207,NM_001042423,NM_001206951,NM_001206952 SLC16A3,SLC16A3,SLC16A3,SLC16A3,SLC16A3,SLC16A3 EXON Missense_R139H,Missense_R139H,Missense_R139H,Missense_R139H,Missense_R139H,Missense_R139H exm1369690 17 80195317 [A/G] NM_001206950,NM_001042422,NM_004207,NM_001042423,NM_001206951,NM_001206952 SLC16A3,SLC16A3,SLC16A3,SLC16A3,SLC16A3,SLC16A3 EXON Missense_R224Q,Missense_R224Q,Missense_R224Q,Missense_R224Q,Missense_R224Q,Missense_R224Q exm1907246 17 80195325 [A/G] NM_001206950,NM_001042422,NM_004207,NM_001042423,NM_001206951,NM_001206952 SLC16A3,SLC16A3,SLC16A3,SLC16A3,SLC16A3,SLC16A3 EXON Missense_G227S,Missense_G227S,Missense_G227S,Missense_G227S,Missense_G227S,Missense_G227S exm1369702 17 80195464 [T/C] NM_001206950,NM_001042422,NM_004207,NM_001042423,NM_001206951,NM_001206952 SLC16A3,SLC16A3,SLC16A3,SLC16A3,SLC16A3,SLC16A3 EXON Missense_I273T,Missense_I273T,Missense_I273T,Missense_I273T,Missense_I273T,Missense_I273T exm1369716 17 80195578 [T/C] NM_001206950,NM_001042422,NM_004207,NM_001042423,NM_001206951,NM_001206952 SLC16A3,SLC16A3,SLC16A3,SLC16A3,SLC16A3,SLC16A3 EXON Missense_A311V,Missense_A311V,Missense_A311V,Missense_A311V,Missense_A311V,Missense_A311V exm1369722 17 80195643 [A/G] NM_001206950,NM_001042422,NM_004207,NM_001042423,NM_001206951,NM_001206952 SLC16A3,SLC16A3,SLC16A3,SLC16A3,SLC16A3,SLC16A3 EXON Missense_G333S,Missense_G333S,Missense_G333S,Missense_G333S,Missense_G333S,Missense_G333S exm1369726 17 80195751 [A/G] NM_001206950,NM_001042422,NM_004207,NM_001042423,NM_001206951,NM_001206952 SLC16A3,SLC16A3,SLC16A3,SLC16A3,SLC16A3,SLC16A3 EXON Missense_V369I,Missense_V369I,Missense_V369I,Missense_V369I,Missense_V369I,Missense_V369I exm1369741 17 80196767 [T/C] NM_001206950,NM_001042422,NM_004207,NM_001042423,NM_001206951,NM_001206952 SLC16A3,SLC16A3,SLC16A3,SLC16A3,SLC16A3,SLC16A3 EXON Missense_V438A,Missense_V438A,Missense_V438A,Missense_V438A,Missense_V438A,Missense_V438A exm1369744 17 80196817 [A/G] NM_001206950,NM_001042422,NM_004207,NM_001042423,NM_001206951,NM_001206952 SLC16A3,SLC16A3,SLC16A3,SLC16A3,SLC16A3,SLC16A3 EXON Missense_G455R,Missense_G455R,Missense_G455R,Missense_G455R,Missense_G455R,Missense_G455R exm1369745 17 80196818 [A/G] NM_001206950,NM_001042422,NM_004207,NM_001042423,NM_001206951,NM_001206952 SLC16A3,SLC16A3,SLC16A3,SLC16A3,SLC16A3,SLC16A3 EXON Missense_G455E,Missense_G455E,Missense_G455E,Missense_G455E,Missense_G455E,Missense_G455E exm1369749 17 80202704 [G/C] NM_001893,NM_139062 CSNK1D,CSNK1D EXON Missense_P401A,Silent exm1369753 17 80203891 [T/C] NM_001893,NM_139062 CSNK1D,CSNK1D EXON Silent,Missense_G408S exm2253306 17 80210443 [A/G] NM_001893,NM_139062 CSNK1D,CSNK1D EXON Synonymous_Y201Y,Synonymous_Y201Y exm1369808 17 80273225 [A/G] NM_006137 CD7 EXON Missense_T232M exm1369809 17 80273234 [T/C] NM_006137 CD7 EXON Missense_R229H exm1369817 17 80273291 [A/G] NM_006137 CD7 EXON Missense_S210L exm1369819 17 80274081 [A/G] NM_006137 CD7 EXON Missense_A201V exm1369827 17 80274162 [T/G] NM_006137 CD7 EXON Missense_P174Q exm1369842 17 80274603 [T/C] NM_006137 CD7 EXON Missense_T113A exm1369858 17 80274822 [T/C] NM_006137 CD7 EXON Missense_V40M exm1369869 17 80280054 [A/C] NM_003004 SECTM1 EXON Missense_Y244D exm1369870 17 80280056 [A/G] NM_003004 SECTM1 EXON Missense_P243L exm1369871 17 80280086 [A/C] NM_003004 SECTM1 EXON Missense_L233R exm1369873 17 80280102 [A/G] NM_003004 SECTM1 EXON Missense_S228P exm1369875 17 80280125 [A/G] NM_003004 SECTM1 EXON Missense_P220L exm1369878 17 80280213 [A/C] NM_003004 SECTM1 EXON Missense_V191F exm1369879 17 80280759 [A/G] NM_003004 SECTM1 EXON Missense_R178W exm1369881 17 80280768 [A/G] NM_003004 SECTM1 EXON Nonsense_Q175X exm2268061 17 80280865 [A/G] NM_003004 SECTM1 EXON Synonymous_P142P exm1369904 17 80282566 [T/C] NM_003004 SECTM1 EXON Missense_V99M exm1907326 17 80282656 [A/G] NM_003004 SECTM1 EXON Missense_R69C exm1369914 17 80285076 [T/C] NM_003004 SECTM1 EXON Missense_Q14R exm1369915 17 80285085 [T/G] NM_003004 SECTM1 EXON Missense_H11P exm1369921 17 80320049 [A/G] NM_207459 TEX19 EXON Missense_R8Q exm1369922 17 80320070 [C/G] NM_207459 TEX19 EXON Missense_S15C exm1369925 17 80320081 [A/G] NM_207459 TEX19 EXON Missense_A19T exm1369932 17 80320175 [A/C] NM_207459 TEX19 EXON Missense_E50A exm1369935 17 80320303 [T/G] NM_207459 TEX19 EXON Missense_G93W exm1369941 17 80320414 [A/G] NM_207459 TEX19 EXON Missense_V130M exm1369944 17 80320486 [A/G] NM_207459 TEX19 EXON Missense_T154A exm1369957 17 80332513 [A/C] NM_018949 UTS2R EXON Missense_P105T exm1369959 17 80332561 [T/G] NM_018949 UTS2R EXON Missense_V121L exm1907343 17 80333066 [A/C] NM_018949 UTS2R EXON Missense_A289E exm1369993 17 80350284 [A/G] NM_024648,NM_175902,NR_033265 OGFOD3,OGFOD3,OGFOD3 EXON Missense_A317V,Silent,Silent exm1369998 17 80350342 [A/G] NM_024648,NM_175902,NR_033265 OGFOD3,OGFOD3,OGFOD3 EXON Missense_R298C,Silent,Silent exm1370006 17 80352300 [T/C] NM_024648,NM_175902,NR_033265 OGFOD3,OGFOD3,OGFOD3 EXON Silent,Missense_E315K,Silent exm1370007 17 80352303 [A/G] NM_024648,NM_175902,NR_033265 OGFOD3,OGFOD3,OGFOD3 EXON Silent,Missense_P314S,Silent exm1370018 17 80356117 [T/C] NM_024648,NM_175902,NR_033265 OGFOD3,OGFOD3,OGFOD3 EXON Missense_M260V,Missense_M260V,Silent exm1370021 17 80356167 [G/C] NM_024648,NM_175902,NR_033265 OGFOD3,OGFOD3,OGFOD3 EXON Missense_S243W,Missense_S243W,Silent exm1370026 17 80361844 [T/C] NM_024648,NM_175902,NR_033265 OGFOD3,OGFOD3,OGFOD3 EXON Missense_H223R,Missense_H223R,Silent exm1907369 17 80361914 [T/C] NM_024648,NM_175902,NR_033265 OGFOD3,OGFOD3,OGFOD3 EXON Missense_A200T,Missense_A200T,Silent exm1370033 17 80363209 [T/C] NM_024648,NM_175902,NR_033265 OGFOD3,OGFOD3,OGFOD3 EXON Missense_R179Q,Missense_R179Q,Silent exm1370043 17 80367243 [T/C] NM_024648,NM_175902,NR_033265 OGFOD3,OGFOD3,OGFOD3 Silent,Silent,Silent exm1370045 17 80367275 [T/C] NM_024648,NM_175902,NR_033265 OGFOD3,OGFOD3,OGFOD3 EXON Missense_K131R,Missense_K131R,Silent exm1370046 17 80367285 [T/C] NM_024648,NM_175902,NR_033265 OGFOD3,OGFOD3,OGFOD3 EXON Missense_V128I,Missense_V128I,Silent exm1370047 17 80367286 [A/G] NM_024648,NM_175902,NR_033265 OGFOD3,OGFOD3,OGFOD3 EXON Synonymous_S127S,Synonymous_S127S,Silent exm1370051 17 80369330 [T/C] NM_024648,NM_175902,NR_033265 OGFOD3,OGFOD3,OGFOD3 Silent,Silent,Silent exm1370055 17 80369391 [T/A] NM_024648,NM_175902,NR_033265 OGFOD3,OGFOD3,OGFOD3 EXON Missense_K107M,Missense_K107M,Silent exm1370062 17 80373377 [T/G] NM_024648,NM_175902,NR_033265 OGFOD3,OGFOD3,OGFOD3 EXON Missense_D67E,Missense_D67E,Silent exm1370067 17 80373453 [A/G] NM_024648,NM_175902,NR_033265 OGFOD3,OGFOD3,OGFOD3 EXON Missense_P42L,Missense_P42L,Silent exm1370082 17 80382289 [T/C] NM_173620 HEXDC EXON Missense_A35V exm1370103 17 80391684 [A/G] NM_173620 HEXDC EXON Missense_I145V exm1370113 17 80393652 [T/C] NM_173620 HEXDC EXON Missense_R179W exm1370115 17 80393667 [A/G] NM_173620 HEXDC EXON Missense_G184S exm1370117 17 80393670 [A/G] NM_173620 HEXDC EXON Missense_V185M exm1370118 17 80393680 [A/G] NM_173620 HEXDC EXON Missense_R188Q exm1370133 17 80395065 [A/G] NM_173620 HEXDC EXON Missense_R242Q exm1370135 17 80395068 [A/G] NM_173620 HEXDC EXON Missense_R243Q exm2253307 17 80395093 [A/G] NM_173620 HEXDC EXON Synonymous_A251A exm1370148 17 80397506 [C/G] NM_173620 HEXDC Silent exm1370154 17 80397586 [T/C] NM_173620 HEXDC EXON Missense_R327C exm1370159 17 80398902 [A/G] NM_173620 HEXDC EXON Missense_V338M exm1370178 17 80399056 [T/C] NM_173620 HEXDC EXON Missense_P389L exm1370193 17 80399714 [A/G] NM_173620 HEXDC EXON Missense_G431R exm1370196 17 80400098 [T/C] NM_173620 HEXDC EXON Missense_P463L exm1370204 17 80400164 [A/G] NM_173620 HEXDC EXON Missense_C485Y exm1370208 17 80400236 [A/C] NM_173620 HEXDC EXON Missense_A509E exm1370213 17 80400349 [A/G] NM_173620 HEXDC EXON Missense_V547I exm1370224 17 80401903 [T/C] NM_001193655,NM_001193657,NR_036514,NR_036518,NR_036517,NM_001193653,NM_001100408,NM_001033046,NM_001100407,NR_036516,NM_001193654 C17orf62,C17orf62,C17orf62,C17orf62,C17orf62,C17orf62,C17orf62,C17orf62,C17orf62,C17orf62,C17orf62 EXON Missense_G181S,Missense_G181S,Silent,Silent,Silent,Missense_G181S,Missense_G167S,Missense_G181S,Missense_G181S,Silent,Missense_G181S exm1370231 17 80402326 [T/C] NM_001193655,NM_001193657,NR_036514,NR_036518,NR_036517,NM_001193653,NM_001100408,NM_001033046,NM_001100407,NR_036516,NM_001193654 C17orf62,C17orf62,C17orf62,C17orf62,C17orf62,C17orf62,C17orf62,C17orf62,C17orf62,C17orf62,C17orf62 EXON Missense_R147H,Missense_R147H,Silent,Silent,Silent,Missense_R147H,Missense_R133H,Missense_R147H,Missense_R147H,Silent,Missense_R147H exm1370235 17 80402350 [A/G] NM_001193655,NM_001193657,NR_036514,NR_036518,NR_036517,NM_001193653,NM_001100408,NM_001033046,NM_001100407,NR_036516,NM_001193654 C17orf62,C17orf62,C17orf62,C17orf62,C17orf62,C17orf62,C17orf62,C17orf62,C17orf62,C17orf62,C17orf62 EXON Missense_T139M,Missense_T139M,Silent,Silent,Silent,Missense_T139M,Missense_T125M,Missense_T139M,Missense_T139M,Silent,Missense_T139M exm1370236 17 80402371 [A/G] NM_001193655,NM_001193657,NR_036514,NR_036518,NR_036517,NM_001193653,NM_001100408,NM_001033046,NM_001100407,NR_036516,NM_001193654 C17orf62,C17orf62,C17orf62,C17orf62,C17orf62,C17orf62,C17orf62,C17orf62,C17orf62,C17orf62,C17orf62 EXON Missense_T132M,Missense_T132M,Silent,Silent,Silent,Missense_T132M,Missense_T118M,Missense_T132M,Missense_T132M,Silent,Missense_T132M exm1370237 17 80402374 [A/G] NM_001193655,NM_001193657,NR_036514,NR_036518,NR_036517,NM_001193653,NM_001100408,NM_001033046,NM_001100407,NR_036516,NM_001193654 C17orf62,C17orf62,C17orf62,C17orf62,C17orf62,C17orf62,C17orf62,C17orf62,C17orf62,C17orf62,C17orf62 EXON Missense_A131V,Missense_A131V,Silent,Silent,Silent,Missense_A131V,Missense_A117V,Missense_A131V,Missense_A131V,Silent,Missense_A131V exm2272566 17 80404326 [T/G] NM_001193655,NM_001193657,NR_036514,NR_036518,NR_036517,NM_001193653,NM_001100408,NM_001033046,NM_001100407,NR_036516,NM_001193654 C17orf62,C17orf62,C17orf62,C17orf62,C17orf62,C17orf62,C17orf62,C17orf62,C17orf62,C17orf62,C17orf62 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm1370252 17 80404516 [T/C] NM_001193655,NM_001193657,NR_036514,NR_036518,NR_036517,NM_001193653,NM_001100408,NM_001033046,NM_001100407,NR_036516,NM_001193654 C17orf62,C17orf62,C17orf62,C17orf62,C17orf62,C17orf62,C17orf62,C17orf62,C17orf62,C17orf62,C17orf62 EXON Missense_N62D,Missense_N62D,Silent,Silent,Silent,Missense_N62D,Missense_N48D,Missense_N62D,Missense_N62D,Silent,Missense_N62D exm1370254 17 80404546 [T/C] NM_001193655,NM_001193657,NR_036514,NR_036518,NR_036517,NM_001193653,NM_001100408,NM_001033046,NM_001100407,NR_036516,NM_001193654 C17orf62,C17orf62,C17orf62,C17orf62,C17orf62,C17orf62,C17orf62,C17orf62,C17orf62,C17orf62,C17orf62 EXON Missense_V52I,Missense_V52I,Silent,Silent,Silent,Missense_V52I,Missense_V38I,Missense_V52I,Missense_V52I,Silent,Missense_V52I exm1370256 17 80404555 [A/G] NM_001193655,NM_001193657,NR_036514,NR_036518,NR_036517,NM_001193653,NM_001100408,NM_001033046,NM_001100407,NR_036516,NM_001193654 C17orf62,C17orf62,C17orf62,C17orf62,C17orf62,C17orf62,C17orf62,C17orf62,C17orf62,C17orf62,C17orf62 EXON Missense_L49F,Missense_L49F,Silent,Silent,Silent,Missense_L49F,Missense_L35F,Missense_L49F,Missense_L49F,Silent,Missense_L49F exm-rs9303029 17 80408815 [T/C] exm1370271 17 80417868 [A/G] NM_001038618,NM_001083608,NM_031968,NM_012336 NARF,NARF,NARF,NARF EXON Silent,Missense_E10K,Missense_E10K,Missense_E10K exm1370276 17 80417913 [A/G] NM_001038618,NM_001083608,NM_031968,NM_012336 NARF,NARF,NARF,NARF EXON Silent,Missense_A25T,Missense_A25T,Missense_A25T exm1370278 17 80417946 [A/G] NM_001038618,NM_001083608,NM_031968,NM_012336 NARF,NARF,NARF,NARF EXON Silent,Missense_E36K,Missense_E36K,Missense_E36K exm1370298 17 80430542 [A/G] NM_001038618,NM_001083608,NM_031968,NM_012336 NARF,NARF,NARF,NARF EXON Missense_R104H,Missense_R115H,Missense_R163H,Missense_R163H exm1370302 17 80436690 [A/G] NM_001038618,NM_001083608,NM_031968,NM_012336 NARF,NARF,NARF,NARF EXON Missense_A120T,Missense_A131T,Missense_A179T,Missense_A179T exm1370313 17 80439004 [A/G] NM_001038618,NM_001083608,NM_031968,NM_012336 NARF,NARF,NARF,NARF EXON Missense_Y170C,Missense_Y181C,Missense_Y229C,Missense_Y229C exm1370315 17 80439060 [T/C] NM_001038618,NM_001083608,NM_031968,NM_012336 NARF,NARF,NARF,NARF EXON Missense_R189W,Missense_R200W,Missense_R248W,Missense_R248W exm1370317 17 80439066 [A/G] NM_001038618,NM_001083608,NM_031968,NM_012336 NARF,NARF,NARF,NARF EXON Missense_A191T,Missense_A202T,Missense_A250T,Missense_A250T exm1370341 17 80443441 [A/G] NM_001038618,NM_001083608,NM_031968,NM_012336 NARF,NARF,NARF,NARF EXON Missense_Y288C,Missense_Y299C,Missense_Y393C,Missense_Y347C exm1370350 17 80445897 [T/C] NM_001038618,NM_001083608,NM_031968,NM_012336 NARF,NARF,NARF,NARF EXON Missense_P353L,Missense_P364L,Missense_P458L,Missense_P412L exm1370356 17 80445942 [A/G] NM_001038618,NM_001083608,NM_031968,NM_012336 NARF,NARF,NARF,NARF EXON Missense_E368G,Missense_E379G,Missense_E473G,Missense_E427G exm1370367 17 80477918 [T/C] NM_004514 FOXK2 EXON Missense_R52C exm1370376 17 80521349 [T/C] NM_004514 FOXK2 EXON Missense_S180L exm1370410 17 80541944 [A/G] NM_004514 FOXK2 EXON Missense_A387T exm2253309 17 80543814 [T/C] NM_004514 FOXK2 EXON Synonymous_T438T exm1370429 17 80543837 [T/C] NM_004514 FOXK2 EXON Missense_A446V exm1370433 17 80543882 [T/C] NM_004514 FOXK2 EXON Missense_S461L exm1370434 17 80543889 [C/G] NM_004514 FOXK2 EXON Synonymous_S463S exm2253311 17 80543898 [T/C] NM_004514 FOXK2 EXON Synonymous_P466P exm1370435 17 80543898 [T/C] NM_004514 FOXK2 EXON Synonymous_P466P exm1370437 17 80543909 [T/C] NM_004514 FOXK2 EXON Missense_T470M exm1370440 17 80543936 [T/C] NM_004514 FOXK2 EXON Missense_A479V exm1370446 17 80543972 [T/C] NM_004514 FOXK2 EXON Missense_A491V exm1370448 17 80543978 [T/C] NM_004514 FOXK2 EXON Missense_T493M exm1370455 17 80544013 [G/C] NM_004514 FOXK2 EXON Missense_A505P exm1370458 17 80544065 [A/G] NM_004514 FOXK2 EXON Missense_R522K exm1370469 17 80544959 [A/G] NM_004514 FOXK2 EXON Missense_A533T exm1370470 17 80544971 [A/G] NM_004514 FOXK2 EXON Missense_A537T exm1370474 17 80544980 [A/G] NM_004514 FOXK2 EXON Missense_G540S exm1370475 17 80544993 [A/G] NM_004514 FOXK2 EXON Missense_R544Q exm1370483 17 80545076 [A/G] NM_004514 FOXK2 EXON Missense_I572V exm1370485 17 80545106 [A/G] NM_004514 FOXK2 EXON Missense_V582M exm1370487 17 80545125 [C/G] NM_004514 FOXK2 EXON Missense_A588G exm1370489 17 80545133 [A/G] NM_004514 FOXK2 EXON Missense_G591S exm1370501 17 80559266 [A/C] NM_004514 FOXK2 EXON Missense_E625A exm1370503 17 80559272 [T/C] NM_004514 FOXK2 EXON Missense_P627L exm1907606 17 80559291 [C/G] NM_004514 FOXK2 EXON Missense_K633N exm1370509 17 80559335 [T/C] NM_004514 FOXK2 EXON Missense_T648M exm1370515 17 80573830 [T/C] NM_019613 WDR45B EXON Missense_A334T exm2253312 17 80573888 [A/G] NM_019613 WDR45B EXON Synonymous_D314D exm1370538 17 80579609 [T/C] NM_019613 WDR45B EXON Missense_H165R exm1370562 17 80606183 [A/C] NM_019613 WDR45B EXON Missense_G12W exm1370564 17 80606200 [T/C] NM_019613 WDR45B EXON Missense_C6Y exm1370572 17 80615788 [C/G] NM_006822 RAB40B EXON Missense_P263R exm1370585 17 80616375 [A/G] NM_006822 RAB40B EXON Missense_P186L exm1370587 17 80616388 [A/G] NM_006822 RAB40B EXON Missense_R182W exm1370626 17 80674717 [A/G] NM_024619,NR_046408 FN3KRP,FN3KRP EXON Missense_R29Q,Silent exm1370627 17 80674737 [A/G] NM_024619,NR_046408 FN3KRP,FN3KRP EXON Missense_G36R,Silent exm2227549 17 80676810 [T/C] NM_024619,NR_046408 FN3KRP,FN3KRP EXON Missense_A57V,Silent exm1370634 17 80676855 [A/T] NM_024619,NR_046408 FN3KRP,FN3KRP EXON Missense_K72M,Silent exm1370650 17 80680740 [T/C] NM_024619,NR_046408 FN3KRP,FN3KRP EXON Missense_T149M,Silent exm1907673 17 80680760 [A/C] NM_024619,NR_046408 FN3KRP,FN3KRP EXON Missense_Q156K,Silent exm1370660 17 80684431 [A/G] NM_024619,NR_046408 FN3KRP,FN3KRP EXON Missense_K182E,Silent exm1370661 17 80684432 [A/G] NM_024619,NR_046408 FN3KRP,FN3KRP EXON Missense_K182R,Silent exm1370668 17 80684730 [T/C] NM_024619,NR_046408 FN3KRP,FN3KRP EXON Missense_R205C,Silent exm1370670 17 80684763 [A/G] NM_024619,NR_046408 FN3KRP,FN3KRP EXON Missense_G216R,Silent exm1370671 17 80684784 [A/G] NM_024619,NR_046408 FN3KRP,FN3KRP EXON Missense_V223I,Silent exm1370678 17 80684869 [T/C] NM_024619,NR_046408 FN3KRP,FN3KRP EXON Missense_M251T,Silent exm1370682 17 80684910 [T/G] NM_024619,NR_046408 FN3KRP,FN3KRP EXON Missense_G265C,Silent exm1370684 17 80684998 [T/C] NM_024619,NR_046408 FN3KRP,FN3KRP EXON Missense_S294L,Silent exm-rs1046896 17 80685533 [T/C] NM_024619,NR_046408 FN3KRP,FN3KRP EXON Silent,Silent exm1370694 17 80693643 [A/G] NM_022158 FN3K EXON Missense_R44H exm1370704 17 80698668 [A/C] NM_022158 FN3K EXON Missense_A108E exm1370714 17 80699255 [A/G] NM_022158 FN3K EXON Missense_G152S exm1370715 17 80706732 [T/C] NM_022158 FN3K EXON Missense_V157A exm2276560 17 80706786 [A/C] NM_022158 FN3K EXON Missense_A175E exm1370723 17 80706845 [T/C] NM_022158 FN3K EXON Missense_R195W exm1370734 17 80708522 [A/C] NM_022158 FN3K EXON Missense_D274A exm2253313 17 80708601 [G/C] NM_022158 FN3K EXON Synonymous_S300S exm1370756 17 80724159 [C/G] NM_005993 TBCD EXON Missense_T117R exm1370760 17 80726401 [C/G] NM_005993 TBCD EXON Missense_A181P exm1370774 17 80763801 [A/G] NM_005993 TBCD EXON Missense_Q334R exm1370778 17 80763848 [A/G] NM_005993 TBCD EXON Missense_E350K exm1370779 17 80763857 [A/G] NM_005993 TBCD EXON Missense_D353N exm1370800 17 80788173 [T/C] NM_005993,NM_024702 TBCD,ZNF750 EXON Silent,Missense_M673V exm1370802 17 80788200 [G/C] NM_005993,NM_024702 TBCD,ZNF750 EXON Silent,Missense_R664G exm1370803 17 80788206 [T/C] NM_005993,NM_024702 TBCD,ZNF750 EXON Silent,Missense_A662T exm1370805 17 80788220 [G/C] NM_005993,NM_024702 TBCD,ZNF750 EXON Silent,Missense_A657G exm1370825 17 80788499 [A/G] NM_005993,NM_024702 TBCD,ZNF750 EXON Silent,Missense_P564L exm1370836 17 80788899 [T/C] NM_005993,NM_024702 TBCD,ZNF750 EXON Silent,Missense_V478I exm1370840 17 80789010 [T/C] NM_005993,NM_024702 TBCD,ZNF750 EXON Silent,Missense_A441T exm1370842 17 80789026 [G/C] NM_005993,NM_024702 TBCD,ZNF750 EXON Silent,Missense_N435K exm1370844 17 80789037 [C/G] NM_005993,NM_024702 TBCD,ZNF750 EXON Silent,Missense_D432H exm1370846 17 80789156 [T/C] NM_005993,NM_024702 TBCD,ZNF750 EXON Silent,Missense_Q392R exm1370847 17 80789159 [T/C] NM_005993,NM_024702 TBCD,ZNF750 EXON Silent,Missense_G391E exm1370856 17 80789387 [A/G] NM_005993,NM_024702 TBCD,ZNF750 EXON Silent,Missense_L315P exm1370860 17 80789468 [A/G] NM_005993,NM_024702 TBCD,ZNF750 EXON Silent,Missense_P288L exm1370861 17 80789502 [T/C] NM_005993,NM_024702 TBCD,ZNF750 EXON Silent,Missense_G277R exm1370866 17 80789628 [T/C] NM_005993,NM_024702 TBCD,ZNF750 EXON Silent,Missense_M235V exm1370874 17 80789858 [T/C] NM_005993,NM_024702 TBCD,ZNF750 EXON Silent,Missense_R158Q exm1370878 17 80789907 [T/C] NM_005993,NM_024702 TBCD,ZNF750 EXON Silent,Missense_A142T exm1370884 17 80790036 [T/C] NM_005993,NM_024702 TBCD,ZNF750 EXON Silent,Missense_D99N exm1370887 17 80790054 [T/C] NM_005993,NM_024702 TBCD,ZNF750 EXON Silent,Missense_N93D exm2276561 17 80858576 [G/C] NM_005993 TBCD EXON Missense_L567V exm1907833 17 80863813 [G/C] NM_005993 TBCD EXON Synonymous_V602V exm1370929 17 80863857 [T/C] NM_005993 TBCD EXON Missense_M617T exm1370931 17 80863871 [A/G] NM_005993 TBCD EXON Missense_I622V exm1370944 17 80879412 [T/C] NM_005993 TBCD EXON Missense_H713Y exm1370947 17 80881583 [T/C] NM_005993 TBCD EXON Missense_P745L exm1370950 17 80881588 [A/G] NM_005993 TBCD EXON Missense_E747K exm1370954 17 80882881 [T/C] NM_005993 TBCD EXON Missense_S776L exm1370962 17 80885139 [A/G] NM_005993 TBCD EXON Missense_C850Y exm1370963 17 80885156 [A/G] NM_005993 TBCD EXON Missense_M856V exm1370973 17 80885809 [T/A] NM_005993 TBCD EXON Missense_M880L exm1370976 17 80887015 [T/C] NM_005993 TBCD EXON Missense_A907V exm1370994 17 80888426 [A/C] NM_005993 TBCD EXON Missense_E1007A exm2253315 17 80888472 [T/C] NM_005993 TBCD EXON Synonymous_F1022F exm1907871 17 80895231 [C/G] NM_005993 TBCD EXON Missense_I1092M exm1371015 17 80895933 [A/G] NM_005993 TBCD EXON Missense_E1097G exm1371018 17 80895955 [A/C] NM_005993 TBCD EXON Missense_D1104E exm1371033 17 80899313 [A/G] NM_005993 TBCD EXON Missense_R1173H exm1371036 17 80899349 [T/C] NM_005993 TBCD EXON Missense_L1185P exm1371043 17 80904844 [T/C] NM_001009905 B3GNTL1 EXON Missense_A341T exm1371046 17 80914588 [T/C] NM_001009905 B3GNTL1 EXON Missense_V330I exm1371050 17 80914630 [A/G] NM_001009905 B3GNTL1 EXON Nonsense_R316X exm1371051 17 80914641 [G/C] NM_001009905 B3GNTL1 EXON Missense_R312T exm1371063 17 80915272 [T/C] NM_001009905 B3GNTL1 EXON Missense_R275Q exm1371065 17 80915321 [A/G] NM_001009905 B3GNTL1 EXON Missense_P259S exm1371068 17 80918948 [A/G] NM_001009905 B3GNTL1 EXON Missense_T237M exm1371073 17 80918994 [T/C] NM_001009905 B3GNTL1 EXON Missense_V222M exm1371075 17 80918997 [A/G] NM_001009905 B3GNTL1 EXON Missense_R221C exm1371085 17 80923546 [A/G] NM_001009905 B3GNTL1 EXON Missense_P194L exm1371093 17 80923573 [A/G] NM_001009905 B3GNTL1 EXON Missense_S185L exm1371096 17 80963040 [T/C] NM_001009905 B3GNTL1 EXON Missense_R152Q exm1371097 17 80963044 [T/C] NM_001009905 B3GNTL1 EXON Missense_E151K exm1371099 17 80963086 [T/C] NM_001009905 B3GNTL1 EXON Missense_I137V exm1371111 17 80992949 [T/C] NM_001009905 B3GNTL1 EXON Missense_A102T exm1371115 17 80992974 [A/G] NM_001009905 B3GNTL1 EXON Synonymous_V93V exm1371120 17 81006379 [A/G] NM_001009905 B3GNTL1 EXON Missense_I82T exm1371124 17 81006579 [A/G] NM_001009905 B3GNTL1 EXON Missense_T48I exm1371126 17 81006598 [T/G] NM_001009905 B3GNTL1 EXON Missense_Q42K exm1371145 17 81042978 [T/C] NM_001004431 METRNL EXON Missense_T112M exm1371152 17 81043068 [A/G] NM_001004431 METRNL EXON Missense_Q142R exm1371155 17 81043113 [T/C] NM_001004431 METRNL EXON Missense_P157L exm1371159 17 81043175 [T/G] NM_001004431 METRNL EXON Missense_A178S exm2277133 17 81043189 [C/G] NM_001004431 METRNL EXON Missense_H182Q exm1371165 17 81050913 [A/G] NM_001004431 METRNL EXON Synonymous_A186A exm1907955 17 81050940 [T/G] NM_001004431 METRNL EXON Missense_E195D exm1371172 17 81050953 [A/G] NM_001004431 METRNL EXON Missense_V200I exm1371180 17 81052039 [C/G] NM_001004431 METRNL EXON Missense_E219Q exm1371181 17 81052043 [A/G] NM_001004431 METRNL EXON Missense_R220Q exm1371183 17 81052067 [A/G] NM_001004431 METRNL EXON Missense_R228H exm1371186 17 81052105 [A/G] NM_001004431 METRNL EXON Missense_E241K exm1371187 17 81052109 [T/C] NM_001004431 METRNL EXON Missense_P242L exm1371190 17 81052130 [A/G] NM_001004431 METRNL EXON Missense_H249R exm2253316 17 81052230 [T/C] NM_001004431 METRNL EXON Synonymous_L282L exm1371205 18 163340 [C/G] NM_005151,NM_001037334 USP14,USP14 EXON Missense_G17R,Missense_G17R exm1371210 18 166819 [T/C] NM_005151,NM_001037334 USP14,USP14 EXON Synonymous_N65N,Synonymous_N65N exm1371226 18 198075 [A/C] NM_005151,NM_001037334 USP14,USP14 EXON Missense_T235K,Missense_T200K exm1371227 18 198077 [A/C] NM_005151,NM_001037334 USP14,USP14 EXON Missense_P236T,Missense_P201T exm1371230 18 198132 [T/C] NM_005151,NM_001037334 USP14,USP14 EXON Missense_T254I,Missense_T219I exm1371241 18 210398 [A/G] NM_005151,NM_001037334 USP14,USP14 EXON Missense_N413S,Missense_N378S exm1371255 18 215504 [A/G] NM_005131 THOC1 EXON Missense_P535S exm1371266 18 224147 [T/C] NM_005131 THOC1 EXON Missense_R414Q exm1371270 18 224984 [T/C] NM_005131 THOC1 EXON Missense_N383S exm1371275 18 225393 [T/C] NM_005131 THOC1 EXON Missense_V344I exm1371289 18 259227 [T/C] NM_005131 THOC1 EXON Missense_R158Q exm1371297 18 264059 [T/C] NM_005131 THOC1 EXON Missense_I75V exm-rs7226677 18 278796 [A/G] exm2273559 18 319935 [T/C] NM_130386 COLEC12 EXON Silent exm1912083 18 321773 [A/G] NM_130386 COLEC12 EXON Missense_H700Y exm1371320 18 331717 [T/C] NM_130386 COLEC12 EXON Missense_E672K exm1371325 18 333009 [G/C] NM_130386 COLEC12 EXON Missense_Q651E exm1371333 18 333137 [A/G] NM_130386 COLEC12 EXON Missense_P608L exm1371334 18 334742 [T/C] NM_130386 COLEC12 EXON Missense_G606S exm1371335 18 334748 [C/G] NM_130386 COLEC12 EXON Missense_D604H exm1371366 18 346438 [T/C] NM_130386 COLEC12 EXON Missense_D395G exm1371374 18 346529 [T/G] NM_130386 COLEC12 EXON Missense_N365H exm1371378 18 346549 [T/C] NM_130386 COLEC12 EXON Missense_R358Q exm1371382 18 346600 [A/G] NM_130386 COLEC12 EXON Missense_T341M exm1371383 18 346615 [A/G] NM_130386 COLEC12 EXON Missense_F336S exm1371385 18 346700 [T/C] NM_130386 COLEC12 EXON Missense_E308K exm1371387 18 346714 [A/G] NM_130386 COLEC12 EXON Missense_I303T exm1371401 18 347086 [T/G] NM_130386 COLEC12 EXON Missense_T179K exm1371402 18 347104 [A/G] NM_130386 COLEC12 EXON Missense_A173V exm1371403 18 347128 [T/G] NM_130386 COLEC12 EXON Missense_T165N exm1371422 18 348145 [T/C] NM_130386 COLEC12 EXON Missense_N67S exm1371424 18 357427 [T/C] NM_130386 COLEC12 EXON Missense_I52V exm1371426 18 357443 [G/C] NM_130386 COLEC12 EXON Missense_L46F exm1371427 18 357487 [T/C] NM_130386 COLEC12 EXON Missense_N32D exm1371438 18 580409 [A/G] NM_004066 CETN1 EXON Missense_M1V exm1371440 18 580412 [A/G] NM_004066 CETN1 EXON Missense_A2T exm1371447 18 580623 [T/C] NM_004066 CETN1 EXON Missense_M72T exm1371450 18 580662 [A/G] NM_004066 CETN1 EXON Missense_S85N exm1371458 18 580773 [T/C] NM_004066 CETN1 EXON Missense_S122L exm1371473 18 618067 [A/G] NM_014410,NM_199167 CLUL1,CLUL1 EXON Missense_T23A,Missense_T23A exm1371480 18 619361 [A/G] NM_014410,NM_199167 CLUL1,CLUL1 EXON Synonymous_Q85Q,Synonymous_Q85Q exm1371482 18 624890 [T/G] NM_014410,NM_199167 CLUL1,CLUL1 EXON Missense_V94G,Missense_V94G exm1371484 18 624970 [G/C] NM_014410,NM_199167 CLUL1,CLUL1 EXON Missense_E121Q,Missense_E121Q exm1371485 18 624973 [A/G] NM_014410,NM_199167 CLUL1,CLUL1 EXON Missense_N122D,Missense_N122D exm1371491 18 627103 [T/C] NM_014410,NM_199167 CLUL1,CLUL1 EXON Missense_R144W,Missense_R144W exm1371494 18 627190 [A/G] NM_014410,NM_199167 CLUL1,CLUL1 EXON Missense_E173K,Missense_E173K exm1371495 18 627274 [A/G] NM_014410,NM_199167 CLUL1,CLUL1 EXON Missense_V201I,Missense_V201I exm1371501 18 627530 [A/G] NM_014410,NM_199167 CLUL1,CLUL1 Silent,Silent exm1371505 18 633346 [C/G] NM_014410,NM_199167 CLUL1,CLUL1 EXON Missense_R302T,Missense_R302T exm1371506 18 633347 [A/T] NM_014410,NM_199167 CLUL1,CLUL1 EXON Missense_R302S,Missense_R302S exm1371511 18 641363 [A/G] NM_014410,NM_199167 CLUL1,CLUL1 EXON Missense_D344G,Missense_D344G exm1371526 18 645051 [A/G] NM_014410,NM_199167 CLUL1,CLUL1 EXON Missense_V451I,Missense_V451I exm1916048 18 645081 [T/G] NM_014410,NM_199167 CLUL1,CLUL1 EXON Nonsense_E461X,Nonsense_E461X exm1371541 18 658001 [A/G] NM_001012716,NM_001071 C18orf56,TYMS EXON Nonsense_Q83X,Silent exm1371543 18 658024 [A/G] NM_001012716,NM_001071 C18orf56,TYMS EXON Missense_P75L,Silent exm1371553 18 658109 [T/G] NM_001012716,NM_001071 C18orf56,TYMS EXON Missense_R47S,Silent exm1916102 18 658121 [T/C] NM_001012716,NM_001071 C18orf56,TYMS EXON Missense_N43D,Silent exm1371562 18 662164 [C/G] NM_001071 TYMS EXON Missense_E100Q exm1371597 18 674325 [A/G] NM_001126123,NM_017512,NM_202758 ENOSF1,ENOSF1,ENOSF1 EXON Missense_L356F,Missense_L438F,Missense_L445F exm2264656 18 674440 [A/C] NM_001126123,NM_017512,NM_202758 ENOSF1,ENOSF1,ENOSF1 Silent,Silent,Silent exm1371604 18 675341 [T/C] NM_001126123,NM_017512,NM_202758 ENOSF1,ENOSF1,ENOSF1 EXON Missense_A322T,Missense_A404T,Missense_A411T exm1371609 18 677381 [A/G] NM_001126123,NM_017512,NM_202758 ENOSF1,ENOSF1,ENOSF1 EXON Missense_F289S,Missense_F371S,Missense_F378S exm1371618 18 677801 [T/G] NM_001126123,NM_017512,NM_202758 ENOSF1,ENOSF1,ENOSF1 EXON Nonsense_C248X,Nonsense_C330X,Nonsense_C337X exm1371628 18 683283 [G/C] NM_001126123,NM_017512,NM_202758 ENOSF1,ENOSF1,ENOSF1 EXON Missense_S198C,Missense_S280C,Missense_S301C exm1371634 18 683362 [A/G] NM_001126123,NM_017512,NM_202758 ENOSF1,ENOSF1,ENOSF1 EXON Missense_R172C,Missense_R254C,Missense_R275C exm1371638 18 685957 [T/G] NM_001126123,NM_017512,NM_202758 ENOSF1,ENOSF1,ENOSF1 EXON Missense_Q153H,Missense_Q235H,Missense_Q256H exm1371668 18 691266 [A/G] NM_001126123,NM_017512,NM_202758 ENOSF1,ENOSF1,ENOSF1 EXON Missense_M63T,Missense_M145T,Missense_M166T exm1371678 18 694268 [A/C] NM_001126123,NM_017512,NM_202758 ENOSF1,ENOSF1,ENOSF1 EXON Missense_W44G,Missense_W126G,Missense_W147G exm2228038 18 706478 [A/G] NM_001126123,NM_017512,NM_202758 ENOSF1,ENOSF1,ENOSF1 EXON Synonymous_L19L,Missense_T62I,Missense_T83I exm1371696 18 706570 [T/G] NM_001126123,NM_017512,NM_202758 ENOSF1,ENOSF1,ENOSF1 EXON Silent,Missense_D31E,Missense_D52E exm2273560 18 724385 [A/G] NM_005433 YES1 EXON Silent exm1371738 18 743371 [T/C] NM_005433 YES1 EXON Missense_T257A exm1371742 18 745840 [T/C] NM_005433 YES1 EXON Missense_I198V exm1371748 18 747987 [T/C] NM_005433 YES1 EXON Missense_A135T exm1371751 18 751739 [T/G] NM_005433 YES1 EXON Missense_K113Q exm1371755 18 756584 [A/G] NM_005433 YES1 EXON Missense_P82S exm1371758 18 756629 [T/C] NM_005433 YES1 EXON Missense_G67R exm1371760 18 756653 [T/C] NM_005433 YES1 EXON Missense_M59V exm1371765 18 756733 [T/C] NM_005433 YES1 EXON Missense_Y32C exm1371776 18 907710 [A/G] NM_001099733,NM_001117 ADCYAP1,ADCYAP1 EXON Missense_D54G,Missense_D54G exm1371785 18 908295 [T/C] NM_001099733,NM_001117 ADCYAP1,ADCYAP1 EXON Missense_A91V,Missense_A91V exm2253580 18 908777 [T/C] NM_001099733,NM_001117 ADCYAP1,ADCYAP1 Silent,Silent exm1918126 18 909634 [T/C] NM_001099733,NM_001117 ADCYAP1,ADCYAP1 EXON Missense_X177Q,Missense_X177Q exm2268128 18 1006470 [A/G] exm-rs8097348 18 1595021 [A/G] exm2272629 18 1631465 [T/G] exm2268068 18 1990397 [A/G] exm2268129 18 2185385 [A/G] exm2272710 18 2463095 [T/C] exm-rs1879352 18 2498054 [T/C] exm1371798 18 2539016 [G/C] NM_022840 METTL4 EXON Missense_V468L exm1371805 18 2544196 [A/G] NM_022840 METTL4 EXON Missense_A424V exm1371808 18 2544233 [T/C] NM_022840 METTL4 EXON Missense_V412M exm1910921 18 2544697 [A/C] NM_022840 METTL4 EXON Missense_G379V exm1371824 18 2547500 [T/G] NM_022840 METTL4 EXON Missense_Q310K exm1371829 18 2554670 [T/C] NM_022840 METTL4 EXON Missense_N276S exm1371830 18 2554696 [C/G] NM_022840 METTL4 EXON Missense_D267E exm1371832 18 2554782 [C/G] NM_022840 METTL4 EXON Missense_E239Q exm1371833 18 2554807 [T/G] NM_022840 METTL4 EXON Missense_E230D exm1371839 18 2554923 [T/G] NM_022840 METTL4 EXON Missense_P192T exm2274987 18 2554982 [T/C] NM_022840 METTL4 EXON Missense_S172N exm1371844 18 2555008 [T/G] NM_022840 METTL4 EXON Missense_L163F exm1371856 18 2567041 [A/G] NM_022840 METTL4 EXON Missense_C59R exm1371859 18 2567113 [A/G] NM_022840 METTL4 EXON Missense_R35C exm1371869 18 2573067 [A/G] NM_006101 NDC80 EXON Missense_G28D exm1371877 18 2577745 [A/G] NM_006101 NDC80 EXON Synonymous_R60R exm1371881 18 2577813 [T/C] NM_006101 NDC80 EXON Missense_P83L exm1371885 18 2578028 [G/C] NM_006101 NDC80 EXON Missense_V122L exm1371901 18 2589239 [A/C] NM_006101 NDC80 EXON Nonsense_S267X exm1371912 18 2595443 [T/G] NM_006101 NDC80 EXON Missense_E348D exm1371913 18 2595502 [A/G] NM_006101 NDC80 EXON Missense_R368Q exm1371916 18 2599024 [A/G] NM_006101 NDC80 EXON Missense_T410A exm1371917 18 2599079 [T/G] NM_006101 NDC80 EXON Missense_G428V exm1371937 18 2616457 [C/G] NM_006101 NDC80 EXON Missense_A605P exm1371939 18 2616491 [G/C] NM_006101 NDC80 EXON Nonsense_S616X exm1371940 18 2616500 [T/C] NM_006101 NDC80 EXON Missense_L619P exm2272630 18 2631687 [T/C] exm2253380 18 2656248 [G/C] NM_015295 SMCHD1 EXON Synonymous_A58A exm1371957 18 2666869 [A/G] NM_015295 SMCHD1 EXON Missense_D88G exm1911017 18 2666885 [T/G] NM_015295 SMCHD1 EXON Missense_D93E exm1371963 18 2673327 [T/C] NM_015295 SMCHD1 EXON Missense_R158C exm1371976 18 2694636 [A/C] NM_015295 SMCHD1 EXON Missense_P329T exm1371990 18 2698023 [T/G] NM_015295 SMCHD1 EXON Missense_D442E exm1371994 18 2700877 [A/G] NM_015295 SMCHD1 EXON Synonymous_K536K exm2253382 18 2700877 [A/G] NM_015295 SMCHD1 EXON Synonymous_K536K exm1372005 18 2707619 [A/G] NM_015295 SMCHD1 EXON Missense_V708I exm2227722 18 2724898 [A/G] NM_015295 SMCHD1 EXON Missense_G869S exm1372021 18 2724930 [A/T] NM_015295 SMCHD1 EXON Missense_K879N exm1372037 18 2728559 [A/G] NM_015295 SMCHD1 EXON Missense_I960V exm1372046 18 2732423 [T/C] NM_015295 SMCHD1 EXON Missense_I1070T exm1372047 18 2732461 [A/G] NM_015295 SMCHD1 EXON Missense_I1083V exm1372069 18 2747559 [A/G] NM_015295 SMCHD1 EXON Missense_I1281V exm1372070 18 2747590 [A/G] NM_015295 SMCHD1 EXON Missense_N1291S exm1372080 18 2751329 [C/G] NM_015295 SMCHD1 EXON Missense_P1407A exm1372092 18 2769780 [T/C] NM_015295 SMCHD1 EXON Missense_T1603I exm1372094 18 2771588 [A/G] NM_015295 SMCHD1 EXON Missense_H1675R exm1372110 18 2796433 [C/G] NM_015295 SMCHD1 EXON Missense_D1969E exm1911111 18 2847890 [A/G] NM_032048 EMILIN2 EXON Missense_N73S exm1372118 18 2847917 [C/G] NM_032048 EMILIN2 EXON Missense_P82R exm1372121 18 2885110 [T/C] NM_032048 EMILIN2 EXON Missense_P136S exm1372127 18 2890560 [T/C] NM_032048 EMILIN2 EXON Synonymous_D145D exm2227736 18 2890649 [A/G] NM_032048 EMILIN2 EXON Missense_G175E exm1372132 18 2890703 [A/G] NM_032048 EMILIN2 EXON Missense_R193Q exm1372133 18 2890715 [T/C] NM_032048 EMILIN2 EXON Missense_T197M exm1372137 18 2890768 [A/G] NM_032048 EMILIN2 EXON Missense_A215T exm1372139 18 2890796 [A/G] NM_032048 EMILIN2 EXON Missense_R224Q exm1372142 18 2890853 [A/C] NM_032048 EMILIN2 EXON Missense_T243K exm1372143 18 2890900 [A/G] NM_032048 EMILIN2 EXON Missense_M259V exm1372145 18 2890946 [A/G] NM_032048 EMILIN2 EXON Missense_K274R exm1372150 18 2891083 [A/C] NM_032048 EMILIN2 EXON Missense_S320R exm1372152 18 2891095 [A/G] NM_032048 EMILIN2 EXON Missense_A324T exm1372153 18 2891096 [A/C] NM_032048 EMILIN2 EXON Missense_A324D exm1372161 18 2891215 [A/G] NM_032048 EMILIN2 EXON Missense_G364R exm1372185 18 2891725 [T/C] NM_032048 EMILIN2 EXON Missense_R534W exm1372189 18 2891830 [T/C] NM_032048 EMILIN2 EXON Missense_P569S exm1372191 18 2891846 [A/G] NM_032048 EMILIN2 EXON Missense_R574H exm1911318 18 2891917 [A/G] NM_032048 EMILIN2 EXON Missense_E598K exm1372224 18 2892475 [T/C] NM_032048 EMILIN2 EXON Missense_P784S exm1372234 18 2908956 [T/C] NM_032048 EMILIN2 EXON Missense_P893L exm1372240 18 2909700 [T/C] NM_032048 EMILIN2 EXON Missense_P903S exm1372256 18 2913187 [A/G] NM_032048 EMILIN2 EXON Missense_A983T exm1372259 18 2913211 [A/G] NM_032048 EMILIN2 EXON Missense_E991K exm1372278 18 2920311 [T/C] NM_014646 LPIN2 EXON Missense_D891N exm1372288 18 2920416 [C/G] NM_014646 LPIN2 EXON Missense_L856V exm1372305 18 2923786 [A/G] NM_014646 LPIN2 EXON Missense_H721Y exm1911565 18 2925272 [T/C] NM_014646 LPIN2 EXON Missense_G630S exm1372311 18 2925284 [A/G] NM_014646 LPIN2 EXON Missense_P626S exm1372312 18 2925293 [A/G] NM_014646 LPIN2 EXON Missense_P623S exm1372314 18 2925359 [T/C] NM_014646 LPIN2 EXON Missense_E601K exm1372322 18 2926779 [A/G] NM_014646 LPIN2 EXON Missense_S579P exm1372323 18 2926791 [T/G] NM_014646 LPIN2 EXON Missense_K575Q exm1372333 18 2929099 [A/G] NM_014646 LPIN2 EXON Missense_I505T exm1372334 18 2929103 [A/G] NM_014646 LPIN2 EXON Missense_L504F exm1372351 18 2937699 [T/C] NM_014646 LPIN2 EXON Missense_K387E exm1372353 18 2937725 [A/G] NM_014646 LPIN2 EXON Missense_P378L exm1372354 18 2937726 [A/G] NM_014646 LPIN2 EXON Missense_P378S exm1372358 18 2937815 [A/G] NM_014646 LPIN2 EXON Missense_P348L exm1372359 18 2937867 [A/C] NM_014646 LPIN2 EXON Missense_A331S exm1372360 18 2937899 [A/G] NM_014646 LPIN2 EXON Missense_T320I exm2276838 18 2940603 [A/G] NM_014646 LPIN2 EXON Missense_T233I exm-rs10460009 18 2948029 [T/C] NM_014646 LPIN2 Silent exm1372379 18 2951126 [T/C] NM_014646 LPIN2 EXON Missense_A173T exm1372382 18 2951197 [A/G] NM_014646 LPIN2 EXON Missense_P149L exm1372386 18 2951290 [A/G] NM_014646 LPIN2 EXON Missense_I118T exm1372404 18 3067357 [A/G] NM_019856,NM_003803 MYOM1,MYOM1 EXON Missense_S1558L,Missense_S1654L exm1372410 18 3067415 [T/C] NM_019856,NM_003803 MYOM1,MYOM1 EXON Missense_G1539S,Missense_G1635S exm2253396 18 3071856 [A/G] NM_019856,NM_003803 MYOM1,MYOM1 EXON Synonymous_D1484D,Synonymous_D1580D exm1372423 18 3071856 [A/G] NM_019856,NM_003803 MYOM1,MYOM1 EXON Synonymous_D1484D,Synonymous_D1580D exm1372424 18 3071878 [T/C] NM_019856,NM_003803 MYOM1,MYOM1 EXON Missense_R1477Q,Missense_R1573Q exm2227766 18 3075472 [A/T] NM_019856,NM_003803 MYOM1,MYOM1 EXON Missense_Q1467L,Missense_Q1563L exm1911836 18 3075736 [A/G] NM_019856,NM_003803 MYOM1,MYOM1 EXON Missense_F1462L,Missense_F1558L exm1372435 18 3079178 [T/C] NM_019856,NM_003803 MYOM1,MYOM1 EXON Synonymous_Q1453Q,Synonymous_Q1549Q exm1372440 18 3083888 [A/C] NM_019856,NM_003803 MYOM1,MYOM1 EXON Missense_L1365F,Missense_L1461F exm1372441 18 3084007 [A/G] NM_019856,NM_003803 MYOM1,MYOM1 EXON Missense_M1357T,Missense_M1453T exm1372445 18 3086065 [T/C] NM_019856,NM_003803 MYOM1,MYOM1 EXON Missense_D1312N,Missense_D1408N exm1911874 18 3090784 [A/G] NM_019856,NM_003803 MYOM1,MYOM1 EXON Missense_I1198T,Missense_I1294T exm1372463 18 3094169 [A/G] NM_019856,NM_003803 MYOM1,MYOM1 EXON Missense_P1192L,Missense_P1288L exm1372465 18 3094191 [T/C] NM_019856,NM_003803 MYOM1,MYOM1 EXON Missense_E1185K,Missense_E1281K exm1372471 18 3102475 [T/C] NM_019856,NM_003803 MYOM1,MYOM1 EXON Missense_N1095S,Missense_N1191S exm1372472 18 3102499 [T/C] NM_019856,NM_003803 MYOM1,MYOM1 EXON Missense_R1087Q,Missense_R1183Q exm1911899 18 3102554 [A/G] NM_019856,NM_003803 MYOM1,MYOM1 EXON Missense_P1069S,Missense_P1165S exm1372477 18 3102594 [T/A] NM_019856,NM_003803 MYOM1,MYOM1 EXON Missense_D1055E,Missense_D1151E exm2253398 18 3111569 [T/G] NM_019856,NM_003803 MYOM1,MYOM1 Silent,Silent exm1911903 18 3112301 [T/C] NM_019856,NM_003803 MYOM1,MYOM1 EXON Missense_R1042H,Missense_R1138H exm1372478 18 3112302 [A/G] NM_019856,NM_003803 MYOM1,MYOM1 EXON Missense_R1042C,Missense_R1138C exm1372504 18 3119876 [T/C] NM_019856,NM_003803 MYOM1,MYOM1 EXON Missense_A941T,Missense_A1037T exm1372513 18 3126811 [A/G] NM_019856,NM_003803 MYOM1,MYOM1 EXON Missense_I864T,Missense_I960T exm1372522 18 3129368 [T/C] NM_019856,NM_003803 MYOM1,MYOM1 EXON Silent,Missense_S886G exm1372524 18 3129493 [A/C] NM_019856,NM_003803 MYOM1,MYOM1 EXON Silent,Missense_C844F exm1372537 18 3135575 [T/C] NM_019856,NM_003803 MYOM1,MYOM1 EXON Missense_T727A,Missense_T727A exm1372541 18 3135644 [T/C] NM_019856,NM_003803 MYOM1,MYOM1 EXON Missense_E704K,Missense_E704K exm1372546 18 3141939 [T/C] NM_019856,NM_003803 MYOM1,MYOM1 EXON Missense_K675E,Missense_K675E exm1372549 18 3141984 [G/C] NM_019856,NM_003803 MYOM1,MYOM1 EXON Missense_P660A,Missense_P660A exm1911994 18 3142010 [T/C] NM_019856,NM_003803 MYOM1,MYOM1 EXON Missense_R651Q,Missense_R651Q exm1372561 18 3151722 [C/G] NM_019856,NM_003803 MYOM1,MYOM1 EXON Missense_L605V,Missense_L605V exm1372563 18 3151736 [T/A] NM_019856,NM_003803 MYOM1,MYOM1 EXON Missense_E600V,Missense_E600V exm1372566 18 3151799 [A/G] NM_019856,NM_003803 MYOM1,MYOM1 EXON Missense_S579F,Missense_S579F exm1912009 18 3151802 [A/C] NM_019856,NM_003803 MYOM1,MYOM1 EXON Missense_R578L,Missense_R578L exm1372587 18 3164434 [A/C] NM_019856,NM_003803 MYOM1,MYOM1 EXON Missense_V448G,Missense_V448G exm1372588 18 3168816 [A/G] NM_019856,NM_003803 MYOM1,MYOM1 EXON Synonymous_N446N,Synonymous_N446N exm1372599 18 3173950 [A/G] NM_019856,NM_003803 MYOM1,MYOM1 EXON Missense_T387I,Missense_T387I exm1372607 18 3174171 [A/G] NM_019856,NM_003803 MYOM1,MYOM1 EXON Missense_S353L,Missense_S353L exm1372610 18 3176040 [G/C] NM_019856,NM_003803 MYOM1,MYOM1 EXON Missense_G341A,Missense_G341A exm1372612 18 3176070 [T/C] NM_019856,NM_003803 MYOM1,MYOM1 EXON Missense_R331Q,Missense_R331Q exm1372613 18 3176107 [T/C] NM_019856,NM_003803 MYOM1,MYOM1 EXON Missense_V319I,Missense_V319I exm1372617 18 3188778 [T/C] NM_019856,NM_003803 MYOM1,MYOM1 EXON Missense_E247K,Missense_E247K exm1372621 18 3188873 [A/G] NM_019856,NM_003803 MYOM1,MYOM1 EXON Missense_T215M,Missense_T215M exm2227781 18 3188913 [T/A] NM_019856,NM_003803 MYOM1,MYOM1 EXON Missense_S202T,Missense_S202T exm1372627 18 3188927 [A/G] NM_019856,NM_003803 MYOM1,MYOM1 EXON Missense_T197M,Missense_T197M exm1372633 18 3188976 [A/G] NM_019856,NM_003803 MYOM1,MYOM1 EXON Missense_S181P,Missense_S181P exm1372634 18 3188978 [A/G] NM_019856,NM_003803 MYOM1,MYOM1 EXON Missense_T180I,Missense_T180I exm1372636 18 3189056 [A/G] NM_019856,NM_003803 MYOM1,MYOM1 EXON Missense_T154M,Missense_T154M exm1372637 18 3193816 [T/C] NM_019856,NM_003803 MYOM1,MYOM1 EXON Missense_R144H,Missense_R144H exm1372653 18 3215083 [T/C] NM_019856,NM_003803 MYOM1,MYOM1 EXON Missense_S47G,Missense_S47G exm1372654 18 3215086 [A/G] NM_019856,NM_003803 MYOM1,MYOM1 EXON Missense_Y46H,Missense_Y46H exm1372665 18 3215158 [C/G] NM_019856,NM_003803 MYOM1,MYOM1 EXON Missense_V22L,Missense_V22L exm2227787 18 3262784 [T/C] NM_033546,NM_001144944,NM_001144945 MYL12B,MYL12B,MYL12B Silent,Silent,Silent exm1372716 18 3452030 [T/C] NM_174886,NM_173207,NM_173209,NM_173208,NM_003244,NM_173210,NM_170695 TGIF1,TGIF1,TGIF1,TGIF1,TGIF1,TGIF1,TGIF1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_S18L exm1372719 18 3452067 [A/G] NM_174886,NM_173207,NM_173209,NM_173208,NM_003244,NM_173210,NM_170695 TGIF1,TGIF1,TGIF1,TGIF1,TGIF1,TGIF1,TGIF1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Nonsense_W30X exm1372720 18 3452069 [T/C] NM_174886,NM_173207,NM_173209,NM_173208,NM_003244,NM_173210,NM_170695 TGIF1,TGIF1,TGIF1,TGIF1,TGIF1,TGIF1,TGIF1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_P31L exm1372725 18 3452135 [T/C] NM_174886,NM_173207,NM_173209,NM_173208,NM_003244,NM_173210,NM_170695 TGIF1,TGIF1,TGIF1,TGIF1,TGIF1,TGIF1,TGIF1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_S53F exm1372743 18 3456563 [A/C] NM_174886,NM_173207,NM_173209,NM_173208,NM_003244,NM_173210,NM_170695,NM_173211 TGIF1,TGIF1,TGIF1,TGIF1,TGIF1,TGIF1,TGIF1,TGIF1 EXON Missense_H56Q,Missense_H90Q,Missense_H56Q,Missense_H76Q,Missense_H76Q,Missense_H56Q,Missense_H205Q,Missense_H56Q exm1372747 18 3457439 [A/T] NM_174886,NM_173207,NM_173209,NM_173208,NM_003244,NM_173210,NM_170695,NM_173211 TGIF1,TGIF1,TGIF1,TGIF1,TGIF1,TGIF1,TGIF1,TGIF1 EXON Missense_Q87L,Missense_Q121L,Missense_Q87L,Missense_Q107L,Missense_Q107L,Missense_Q87L,Missense_Q236L,Missense_Q87L exm1372759 18 3457606 [T/C] NM_174886,NM_173207,NM_173209,NM_173208,NM_003244,NM_173210,NM_170695,NM_173211 TGIF1,TGIF1,TGIF1,TGIF1,TGIF1,TGIF1,TGIF1,TGIF1 EXON Missense_P143S,Missense_P177S,Missense_P143S,Missense_P163S,Missense_P163S,Missense_P143S,Missense_P292S,Missense_P143S exm1372765 18 3457739 [A/G] NM_174886,NM_173207,NM_173209,NM_173208,NM_003244,NM_173210,NM_170695,NM_173211 TGIF1,TGIF1,TGIF1,TGIF1,TGIF1,TGIF1,TGIF1,TGIF1 EXON Missense_N187S,Missense_N221S,Missense_N187S,Missense_N207S,Missense_N207S,Missense_N187S,Missense_N336S,Missense_N187S exm1912617 18 3534199 [A/G] NM_004746,NM_001242766,NM_001242762,NM_001242764,NM_001242763,NM_001003809,NM_001242761,NM_001242765 DLGAP1,DLGAP1,DLGAP1,DLGAP1,DLGAP1,DLGAP1,DLGAP1,DLGAP1 EXON Synonymous_P824P,Synonymous_P532P,Synonymous_P508P,Synonymous_P530P,Synonymous_P546P,Synonymous_P522P,Synonymous_P824P,Synonymous_P522P exm1372785 18 3534224 [T/C] NM_004746,NM_001242766,NM_001242762,NM_001242764,NM_001242763,NM_001003809,NM_001242761,NM_001242765 DLGAP1,DLGAP1,DLGAP1,DLGAP1,DLGAP1,DLGAP1,DLGAP1,DLGAP1 EXON Missense_R816Q,Missense_R524Q,Missense_R500Q,Missense_R522Q,Missense_R538Q,Missense_R514Q,Missense_R816Q,Missense_R514Q exm1372787 18 3534282 [A/G] NM_004746,NM_001242766,NM_001242762,NM_001242764,NM_001242763,NM_001003809,NM_001242761,NM_001242765 DLGAP1,DLGAP1,DLGAP1,DLGAP1,DLGAP1,DLGAP1,DLGAP1,DLGAP1 EXON Synonymous_L797L,Synonymous_L505L,Synonymous_L481L,Synonymous_L503L,Synonymous_L519L,Synonymous_L495L,Synonymous_L797L,Synonymous_L495L exm1372792 18 3534424 [A/G] NM_004746,NM_001242766,NM_001242762,NM_001242764,NM_001242763,NM_001003809,NM_001242761,NM_001242765 DLGAP1,DLGAP1,DLGAP1,DLGAP1,DLGAP1,DLGAP1,DLGAP1,DLGAP1 EXON Synonymous_H749H,Synonymous_H457H,Synonymous_H433H,Synonymous_H455H,Synonymous_H471H,Synonymous_H447H,Synonymous_H749H,Synonymous_H447H exm1372797 18 3534521 [A/G] NM_004746,NM_001242766,NM_001242762,NM_001242764,NM_001242763,NM_001003809,NM_001242761,NM_001242765 DLGAP1,DLGAP1,DLGAP1,DLGAP1,DLGAP1,DLGAP1,DLGAP1,DLGAP1 EXON Missense_I717T,Missense_I425T,Missense_I401T,Missense_I423T,Missense_I439T,Missense_I415T,Missense_I717T,Missense_I415T exm1372801 18 3534608 [A/C] NM_004746,NM_001242766,NM_001242762,NM_001242764,NM_001242763,NM_001003809,NM_001242761,NM_001242765 DLGAP1,DLGAP1,DLGAP1,DLGAP1,DLGAP1,DLGAP1,DLGAP1,DLGAP1 EXON Missense_R688L,Missense_R396L,Missense_R372L,Missense_R394L,Missense_R410L,Missense_R386L,Missense_R688L,Missense_R386L exm1372807 18 3581895 [T/C] NM_004746,NM_001242766,NM_001242762,NM_001242764,NM_001242763,NM_001003809,NM_001242761,NM_001242765 DLGAP1,DLGAP1,DLGAP1,DLGAP1,DLGAP1,DLGAP1,DLGAP1,DLGAP1 EXON Missense_R648Q,Missense_R356Q,Missense_R332Q,Missense_R354Q,Missense_R370Q,Missense_R346Q,Missense_R648Q,Missense_R346Q exm1372812 18 3581966 [A/G] NM_004746,NM_001242766,NM_001242762,NM_001242764,NM_001242763,NM_001003809,NM_001242761,NM_001242765 DLGAP1,DLGAP1,DLGAP1,DLGAP1,DLGAP1,DLGAP1,DLGAP1,DLGAP1 EXON Synonymous_T624T,Synonymous_T332T,Synonymous_T308T,Synonymous_T330T,Synonymous_T346T,Synonymous_T322T,Synonymous_T624T,Synonymous_T322T exm1372838 18 3729175 [T/C] NM_004746,NM_001242766,NM_001242762,NM_001242764,NM_001242763,NM_001003809,NM_001242761,NM_001242765 DLGAP1,DLGAP1,DLGAP1,DLGAP1,DLGAP1,DLGAP1,DLGAP1,DLGAP1 EXON Synonymous_P517P,Synonymous_P215P,Synonymous_P229P,Synonymous_P223P,Synonymous_P229P,Synonymous_P215P,Synonymous_P517P,Synonymous_P215P exm1372845 18 3729292 [A/C] NM_004746,NM_001242766,NM_001242762,NM_001242764,NM_001242763,NM_001003809,NM_001242761,NM_001242765 DLGAP1,DLGAP1,DLGAP1,DLGAP1,DLGAP1,DLGAP1,DLGAP1,DLGAP1 EXON Synonymous_A478A,Synonymous_A176A,Synonymous_A190A,Synonymous_A184A,Synonymous_A190A,Synonymous_A176A,Synonymous_A478A,Synonymous_A176A exm2253418 18 3797659 [A/G] NM_004746,NM_001242766,NM_001242762,NM_001242764,NM_001242763,NM_001003809,NM_001242761,NM_001242765 DLGAP1,DLGAP1,DLGAP1,DLGAP1,DLGAP1,DLGAP1,DLGAP1,DLGAP1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm1372864 18 3879164 [A/G] NM_004746,NM_001242761,NR_038895 DLGAP1,DLGAP1,DLGAP1-AS3 EXON Missense_A302V,Missense_A302V,Silent exm1372894 18 3879648 [A/G] NM_004746,NM_001242761,NR_038895 DLGAP1,DLGAP1,DLGAP1-AS3 EXON Synonymous_L141L,Synonymous_L141L,Silent exm1372912 18 3879984 [A/G] NM_004746,NM_001242761,NR_038895 DLGAP1,DLGAP1,DLGAP1-AS3 EXON Missense_R29C,Missense_R29C,Silent exm1372916 18 3880037 [T/C] NM_004746,NM_001242761,NR_038895 DLGAP1,DLGAP1,DLGAP1-AS3 EXON Missense_H11R,Missense_H11R,Silent exm-rs9955521 18 4083561 [T/G] NM_004746,NM_001242761 DLGAP1,DLGAP1 Silent,Silent exm2253428 18 4153950 [T/C] NM_004746,NM_001242761 DLGAP1,DLGAP1 Silent,Silent exm2272711 18 4261884 [T/C] NM_004746,NM_001242761 DLGAP1,DLGAP1 Silent,Silent exm2268070 18 4554426 [A/G] exm-rs7237848 18 4773110 [T/C] exm2272633 18 5036357 [T/C] exm1372922 18 5145609 [T/G] NM_001145194 C18orf42 EXON Missense_H54Q exm1372951 18 5291649 [G/C] NM_001143823,NM_001243704,NM_003409,NM_001243702 ZBTB14,ZBTB14,ZBTB14,ZBTB14 EXON Missense_E186D,Missense_E186D,Missense_E186D,Missense_E186D exm1372975 18 5395098 [T/C] NM_012307 EPB41L3 EXON Missense_I1041V exm1372985 18 5396258 [A/G] NM_012307 EPB41L3 EXON Missense_T972M exm1372990 18 5396324 [T/G] NM_012307 EPB41L3 EXON Missense_T950K exm1372994 18 5397092 [T/C] NM_012307 EPB41L3 EXON Missense_I936V exm1372997 18 5397128 [A/G] NM_012307 EPB41L3 EXON Missense_R924C exm1373001 18 5397205 [A/G] NM_012307 EPB41L3 EXON Missense_T898M exm1373003 18 5397245 [T/C] NM_012307 EPB41L3 EXON Missense_A885T exm1373009 18 5397296 [T/C] NM_012307 EPB41L3 EXON Missense_G868R exm1373016 18 5397323 [C/G] NM_012307 EPB41L3 EXON Missense_E859Q exm1373020 18 5397364 [A/G] NM_012307 EPB41L3 EXON Missense_P845L exm1373023 18 5397377 [T/C] NM_012307 EPB41L3 EXON Missense_V841M exm1373025 18 5397383 [A/G] NM_012307 EPB41L3 EXON Missense_P839S exm1373027 18 5397388 [A/G] NM_012307 EPB41L3 EXON Missense_T837M exm1373029 18 5397404 [A/C] NM_012307 EPB41L3 EXON Missense_S832A exm1373034 18 5398134 [C/G] NM_012307 EPB41L3 EXON Missense_Q786H exm1373035 18 5406784 [A/G] NM_012307 EPB41L3 EXON Missense_P781S exm1373039 18 5406870 [A/G] NM_012307 EPB41L3 EXON Missense_T752M exm2260782 18 5407839 [T/C] NM_012307 EPB41L3 Silent exm1373052 18 5410594 [T/C] NM_012307 EPB41L3 EXON Missense_A698T exm1373058 18 5415845 [T/C] NM_012307 EPB41L3 EXON Missense_N680S exm1373064 18 5415927 [T/C] NM_012307 EPB41L3 EXON Missense_A653T exm1373075 18 5416160 [T/C] NM_012307 EPB41L3 EXON Missense_Y575C exm1373077 18 5416221 [T/C] NM_012307 EPB41L3 EXON Missense_A555T exm1373086 18 5419723 [T/C] NM_012307 EPB41L3 EXON Missense_R498Q exm1373099 18 5423409 [T/C] NM_012307 EPB41L3 EXON Missense_K436R exm2253475 18 5434036 [A/G] NM_012307 EPB41L3 EXON Synonymous_S230S exm2268071 18 5441359 [A/G] NM_012307 EPB41L3 Silent exm1373131 18 5478295 [A/C] NM_012307 EPB41L3 EXON Missense_S109I exm-rs11662763 18 5857091 [T/C] exm1373165 18 5890777 [T/A] NM_001080209 TMEM200C EXON Missense_E429V exm1373192 18 5891608 [T/A] NM_001080209 TMEM200C EXON Missense_F152Y exm1373193 18 5891611 [A/C] NM_001080209 TMEM200C EXON Missense_F151C exm1373201 18 5891746 [T/C] NM_001080209 TMEM200C EXON Missense_S106N exm1373205 18 5891860 [A/G] NM_001080209 TMEM200C EXON Missense_A68V exm1373218 18 5956224 [T/C] NM_173464 L3MBTL4 EXON Missense_G623R exm1373220 18 5956238 [T/C] NM_173464 L3MBTL4 EXON Missense_G618D exm1373229 18 5969408 [T/C] NM_173464 L3MBTL4 EXON Missense_R542H exm1373242 18 5969543 [A/G] NM_173464 L3MBTL4 EXON Missense_A497V exm1373252 18 6093379 [A/G] NM_173464 L3MBTL4 EXON Missense_H450Y exm2264663 18 6107360 [A/C] NM_173464 L3MBTL4 Silent exm1915750 18 6138205 [A/G] NM_173464 L3MBTL4 EXON Missense_S396L exm1373265 18 6171826 [T/C] NM_173464 L3MBTL4 Silent exm1373268 18 6171902 [T/C] NM_173464 L3MBTL4 EXON Missense_V341M exm1373295 18 6241358 [A/G] NM_173464 L3MBTL4 EXON Missense_P184L exm1915901 18 6241368 [T/C] NM_173464 L3MBTL4 EXON Missense_N181D exm2227993 18 6243379 [T/C] NM_173464 L3MBTL4 EXON Missense_Y125C exm1373311 18 6301903 [A/G] NM_173464 L3MBTL4 EXON Synonymous_H42H exm2272634 18 6646853 [T/C] exm2228023 18 6837372 [A/G] NM_001010000 ARHGAP28 EXON Missense_I9V exm1373332 18 6851058 [G/C] NM_001010000 ARHGAP28 EXON Missense_T31S exm2253529 18 6854453 [A/C] NM_001010000 ARHGAP28 Silent exm1373336 18 6859846 [A/G] NM_001010000 ARHGAP28 EXON Missense_A67T exm2228024 18 6859874 [T/C] NM_001010000 ARHGAP28 EXON Missense_A76V exm1373339 18 6868155 [C/G] NM_001010000 ARHGAP28 EXON Missense_L86V exm1373362 18 6882143 [A/G] NM_001010000 ARHGAP28 EXON Missense_R274H exm1373380 18 6890043 [A/G] NM_001010000 ARHGAP28 EXON Missense_I406V exm1373390 18 6890538 [T/G] NM_001010000 ARHGAP28 EXON Missense_R456L exm1373393 18 6894886 [A/G] NM_001010000 ARHGAP28 EXON Missense_R475Q exm1373394 18 6894888 [T/A] NM_001010000 ARHGAP28 EXON Missense_M476L exm1373409 18 6908976 [A/G] NM_001010000 ARHGAP28 EXON Missense_C524Y exm1373413 18 6912082 [T/G] NM_001010000 ARHGAP28 EXON Missense_A548S exm1373417 18 6912143 [A/C] NM_001010000 ARHGAP28 EXON Missense_Q568P exm-rs597503 18 6939947 [A/G] exm1373426 18 6942160 [A/G] NM_005559 LAMA1 EXON Missense_P3049L exm1373439 18 6943284 [A/G] NM_005559 LAMA1 EXON Missense_R2988C exm1373440 18 6943343 [A/G] NM_005559 LAMA1 EXON Missense_T2968I exm1916566 18 6948489 [T/G] NM_005559 LAMA1 EXON Missense_S2875R exm1373455 18 6948525 [T/C] NM_005559 LAMA1 EXON Missense_D2863N exm1373459 18 6949203 [G/C] NM_005559 LAMA1 EXON Missense_S2818C exm1373460 18 6949209 [T/C] NM_005559 LAMA1 EXON Missense_R2816Q exm1373490 18 6958477 [C/G] NM_005559 LAMA1 EXON Missense_E2655Q exm1373502 18 6958609 [T/C] NM_005559 LAMA1 EXON Missense_T2611A exm1373507 18 6959355 [A/G] NM_005559 LAMA1 EXON Missense_L2588S exm1373509 18 6959382 [T/C] NM_005559 LAMA1 EXON Missense_S2579N exm1373511 18 6959394 [A/G] NM_005559 LAMA1 EXON Missense_T2575M exm1373515 18 6959459 [C/G] NM_005559 LAMA1 EXON Missense_N2553K exm1373518 18 6961610 [T/C] NM_005559 LAMA1 EXON Missense_R2534Q exm1373522 18 6961680 [T/G] NM_005559 LAMA1 EXON Missense_L2511M exm1373538 18 6964778 [T/C] NM_005559 LAMA1 EXON Missense_Y2407C exm1373540 18 6965295 [T/C] NM_005559 LAMA1 EXON Missense_R2396Q exm1373541 18 6965301 [T/C] NM_005559 LAMA1 EXON Missense_R2394Q exm1373545 18 6965341 [A/G] NM_005559 LAMA1 EXON Missense_R2381C exm1373560 18 6966262 [T/C] NM_005559 LAMA1 EXON Missense_G2312R exm1373563 18 6966296 [A/G] NM_005559 LAMA1 EXON Synonymous_S2300S exm1373564 18 6971872 [A/G] NM_005559 LAMA1 EXON Missense_R2295C exm1916628 18 6971910 [A/G] NM_005559 LAMA1 EXON Missense_I2282T exm1373573 18 6971976 [T/G] NM_005559 LAMA1 EXON Missense_S2260Y exm1373574 18 6973070 [T/C] NM_005559 LAMA1 EXON Missense_G2254R exm1373580 18 6974948 [A/C] NM_005559 LAMA1 EXON Missense_D2193Y exm1373582 18 6975001 [C/G] NM_005559 LAMA1 EXON Missense_R2175T exm1373585 18 6975938 [T/C] NM_005559 LAMA1 EXON Missense_A2163T exm1373588 18 6975995 [C/G] NM_005559 LAMA1 EXON Missense_L2144V exm1373593 18 6976070 [T/C] NM_005559 LAMA1 EXON Missense_A2119T exm1373599 18 6977814 [T/G] NM_005559 LAMA1 EXON Missense_K2086T exm1373600 18 6977821 [A/G] NM_005559 LAMA1 EXON Missense_R2084W exm1373602 18 6977844 [A/G] NM_005559 LAMA1 EXON Missense_I2076T exm1373606 18 6978233 [T/C] NM_005559 LAMA1 EXON Missense_R2051Q exm1373613 18 6978321 [T/C] NM_005559 LAMA1 EXON Missense_A2022T exm1373615 18 6978360 [T/C] NM_005559 LAMA1 EXON Missense_A2009T exm1373618 18 6980523 [T/C] NM_005559 LAMA1 EXON Missense_K2002E exm1916650 18 6980567 [A/G] NM_005559 LAMA1 EXON Missense_T1987I exm1373625 18 6982519 [T/C] NM_005559 LAMA1 EXON Missense_N1956S exm1373633 18 6983105 [A/G] NM_005559 LAMA1 EXON Missense_T1930M exm1373636 18 6983168 [A/G] NM_005559 LAMA1 EXON Missense_I1909T exm1373639 18 6985270 [T/C] NM_005559 LAMA1 EXON Missense_A1876T exm1373657 18 6986213 [T/C] NM_005559 LAMA1 EXON Missense_V1768M exm1373659 18 6986227 [A/G] NM_005559 LAMA1 EXON Missense_A1763V exm-rs17519184 18 6986714 [A/G] NM_005559 LAMA1 Silent exm1373666 18 6992680 [T/C] NM_005559 LAMA1 EXON Missense_E1683G exm1373667 18 6992683 [A/T] NM_005559 LAMA1 EXON Missense_D1682V exm1373668 18 6992710 [T/G] NM_005559 LAMA1 EXON Missense_E1673A exm1373670 18 6993673 [T/C] NM_005559 LAMA1 EXON Missense_I1659V exm1373675 18 6995358 [T/C] NM_005559 LAMA1 EXON Missense_K1632E exm1373684 18 6997818 [A/C] NM_005559 LAMA1 EXON Missense_S1577A exm1373703 18 6999522 [T/C] NM_005559 LAMA1 EXON Missense_V1529I exm1373706 18 6999557 [T/A] NM_005559 LAMA1 EXON Missense_V1517D exm2228031 18 7007149 [T/C] NM_005559 LAMA1 EXON Missense_G1417R exm1373722 18 7007187 [A/C] NM_005559 LAMA1 EXON Missense_S1404I exm1373723 18 7007194 [A/G] NM_005559 LAMA1 EXON Missense_P1402S exm1373731 18 7008543 [T/C] NM_005559 LAMA1 EXON Missense_A1356T exm1373735 18 7008591 [T/C] NM_005559 LAMA1 EXON Missense_M1340V exm1373737 18 7009293 [T/C] NM_005559 LAMA1 EXON Missense_D1316N exm1373739 18 7009329 [G/C] NM_005559 LAMA1 EXON Missense_P1304A exm1373747 18 7010327 [T/C] NM_005559 LAMA1 EXON Missense_V1249I exm1373771 18 7011463 [T/C] NM_005559 LAMA1 EXON Missense_D1175N exm1373785 18 7012099 [A/C] NM_005559 LAMA1 EXON Missense_E1134D exm1916725 18 7013921 [T/C] NM_005559 LAMA1 EXON Missense_D1086N exm2274991 18 7013962 [A/C] NM_005559 LAMA1 EXON Missense_R1072L exm1373804 18 7014013 [T/C] NM_005559 LAMA1 EXON Missense_R1055Q exm1373808 18 7014032 [T/C] NM_005559 LAMA1 EXON Missense_V1049M exm1373811 18 7015737 [A/G] NM_005559 LAMA1 EXON Missense_A1037V exm1373815 18 7016490 [A/G] NM_005559 LAMA1 EXON Missense_P997S exm1373821 18 7016579 [T/C] NM_005559 LAMA1 EXON Missense_G967D exm1373839 18 7023207 [A/G] NM_005559 LAMA1 EXON Missense_A886V exm1373843 18 7023340 [A/G] NM_005559 LAMA1 EXON Missense_P842S exm1373845 18 7023349 [A/G] NM_005559 LAMA1 EXON Missense_P839S exm1373856 18 7026081 [T/C] NM_005559 LAMA1 EXON Missense_V767I exm1373865 18 7032153 [T/C] NM_005559 LAMA1 EXON Missense_R729H exm1373882 18 7034508 [T/G] NM_005559 LAMA1 EXON Missense_N674T exm1373889 18 7036029 [A/G] NM_005559 LAMA1 EXON Missense_T599M exm1373890 18 7036033 [G/C] NM_005559 LAMA1 EXON Missense_E598Q exm1373893 18 7036045 [T/C] NM_005559 LAMA1 EXON Missense_D594N exm1373905 18 7037639 [T/C] NM_005559 LAMA1 EXON Missense_V559I exm1373907 18 7037641 [A/G] NM_005559 LAMA1 EXON Missense_A558V exm1373912 18 7037695 [A/G] NM_005559 LAMA1 EXON Missense_P540L exm1373916 18 7038841 [T/C] NM_005559 LAMA1 EXON Missense_V511I exm1916805 18 7038945 [T/C] NM_005559 LAMA1 EXON Missense_N476S exm1373928 18 7042166 [T/G] NM_005559 LAMA1 EXON Missense_D413E exm1373930 18 7042221 [T/C] NM_005559 LAMA1 EXON Missense_R395H exm1373931 18 7042222 [A/G] NM_005559 LAMA1 EXON Missense_R395C exm-rs16951095 18 7042911 [T/C] NM_005559 LAMA1 Silent exm1373934 18 7043335 [A/G] NM_005559 LAMA1 EXON Missense_L349S exm1373940 18 7044753 [A/G] NM_005559 LAMA1 EXON Missense_P315L exm1373945 18 7046276 [A/C] NM_005559 LAMA1 Silent exm1373950 18 7049115 [A/G] NM_005559 LAMA1 EXON Missense_R244W exm1373955 18 7049171 [T/C] NM_005559 LAMA1 EXON Missense_R225H exm1373957 18 7049180 [T/C] NM_005559 LAMA1 EXON Missense_R222Q exm1373961 18 7050727 [T/C] NM_005559 LAMA1 EXON Missense_Y185C exm1373972 18 7050847 [A/G] NM_005559 LAMA1 EXON Missense_T145M exm1373977 18 7050866 [A/G] NM_005559 LAMA1 EXON Missense_R139C exm1373980 18 7050910 [A/G] NM_005559 LAMA1 EXON Missense_I124T exm1373985 18 7080306 [T/C] NM_005559 LAMA1 EXON Missense_G71D exm1373987 18 7080337 [T/C] NM_005559 LAMA1 EXON Missense_V61I exm1373997 18 7231143 [A/G] NM_001105581 LRRC30 EXON Missense_A3T exm1374000 18 7231186 [A/G] NM_001105581 LRRC30 EXON Missense_R17K exm1374011 18 7231378 [A/G] NM_001105581 LRRC30 EXON Missense_N81S exm1374018 18 7231467 [A/G] NM_001105581 LRRC30 EXON Missense_R111G exm1374024 18 7231636 [A/C] NM_001105581 LRRC30 EXON Missense_K167T exm1374034 18 7231740 [A/G] NM_001105581 LRRC30 EXON Missense_A202T exm1374040 18 7231855 [A/G] NM_001105581 LRRC30 EXON Missense_N240S exm1374041 18 7231862 [T/G] NM_001105581 LRRC30 EXON Missense_N242K exm1374044 18 7231881 [A/G] NM_001105581 LRRC30 EXON Missense_S249G exm1374054 18 7231996 [T/G] NM_001105581 LRRC30 EXON Missense_G287V exm2260808 18 7329035 [T/C] exm2260814 18 7630982 [A/G] NM_001105244,NM_002845 PTPRM,PTPRM Silent,Silent exm-rs7243299 18 7755771 [T/C] NM_001105244,NM_002845 PTPRM,PTPRM Silent,Silent exm1374062 18 7774190 [A/T] NM_001105244,NM_002845 PTPRM,PTPRM EXON Missense_S39R,Missense_S39R exm1374070 18 7888115 [A/C] NM_001105244,NM_002845 PTPRM,PTPRM EXON Missense_L70M,Missense_L70M exm1374086 18 7888320 [A/G] NM_001105244,NM_002845 PTPRM,PTPRM EXON Missense_R138H,Missense_R138H exm1374096 18 7949191 [C/G] NM_001105244,NM_002845 PTPRM,PTPRM EXON Missense_R226G,Missense_R226G exm1374100 18 7949333 [A/G] NM_001105244,NM_002845 PTPRM,PTPRM EXON Missense_Y273C,Missense_Y273C exm1374104 18 7955127 [A/G] NM_001105244,NM_002845 PTPRM,PTPRM EXON Missense_V283I,Missense_V283I exm1374109 18 7955287 [T/C] NM_001105244,NM_002845 PTPRM,PTPRM EXON Missense_T336M,Missense_T336M exm2253573 18 8028829 [T/C] NM_001105244,NM_002845 PTPRM,PTPRM Silent,Silent exm1374122 18 8069840 [A/G] NM_001105244,NM_002845 PTPRM,PTPRM EXON Missense_R430Q,Missense_R430Q exm1374133 18 8076508 [A/G] NM_001105244,NM_002845 PTPRM,PTPRM EXON Missense_I499M,Missense_I499M exm1917922 18 8088803 [A/G] NM_001105244,NM_002845 PTPRM,PTPRM EXON Missense_V604M,Missense_V604M exm1374148 18 8113566 [A/G] NM_001105244,NM_002845 PTPRM,PTPRM EXON Missense_I647V,Missense_I647V exm1374149 18 8113588 [A/T] NM_001105244,NM_002845 PTPRM,PTPRM EXON Missense_L654Q,Missense_L654Q exm1374155 18 8113669 [A/G] NM_001105244,NM_002845 PTPRM,PTPRM EXON Missense_N681S,Missense_N681S exm-rs8098064 18 8209269 [A/G] NM_001105244,NM_002845 PTPRM,PTPRM Silent,Silent exm1374170 18 8244165 [A/G] NM_001105244,NM_002845 PTPRM,PTPRM EXON Missense_E804K,Missense_E804K exm1374171 18 8244182 [A/G] NM_001105244,NM_002845 PTPRM,PTPRM EXON Missense_M809I,Missense_M809I exm1374172 18 8244187 [T/C] NM_001105244,NM_002845 PTPRM,PTPRM EXON Missense_T811M,Missense_T811M exm1374175 18 8244205 [A/G] NM_001105244,NM_002845 PTPRM,PTPRM EXON Missense_R817K,Missense_R817K exm1917948 18 8247858 [C/G] NM_001105244,NM_002845 PTPRM,PTPRM EXON Missense_S823W,Missense_S823W exm1374183 18 8253302 [A/G] NM_001105244,NM_002845 PTPRM,PTPRM EXON Missense_V882M,Missense_V869M exm1374189 18 8296400 [C/G] NM_001105244,NM_002845 PTPRM,PTPRM EXON Missense_S930W,Missense_S917W exm1374199 18 8343465 [T/C] NM_001105244,NM_002845 PTPRM,PTPRM EXON Missense_H1001Y,Missense_H988Y exm1374207 18 8376099 [A/C] NM_001105244,NM_002845 PTPRM,PTPRM EXON Missense_D1076A,Missense_D1063A exm1374246 18 8384558 [A/G] NM_001105244,NM_002845 PTPRM,PTPRM Silent,Silent exm1374249 18 8384671 [A/G] NM_001105244,NM_002845 PTPRM,PTPRM EXON Missense_Y1344C,Missense_Y1331C exm1374267 18 8394505 [A/G] NM_001105244,NM_002845 PTPRM,PTPRM EXON Missense_A1414T,Missense_A1401T exm2253576 18 8439366 [A/G] exm2253577 18 8633250 [T/G] NM_001025300 RAB12 EXON Synonymous_G117G exm2274992 18 8636254 [A/G] NM_001025300 RAB12 EXON Missense_A174T exm1374292 18 8636320 [A/G] NM_001025300 RAB12 EXON Missense_I196V exm1374298 18 8638180 [A/G] NM_001025300 RAB12 EXON Missense_N219D exm1918022 18 8718522 [A/G] NM_015210 SOGA2 EXON Missense_R25H exm1374310 18 8718624 [A/G] NM_015210 SOGA2 EXON Missense_R59Q exm1374318 18 8720430 [A/G] NM_015210 SOGA2 EXON Missense_Q98R exm1374319 18 8720456 [A/C] NM_015210 SOGA2 EXON Missense_K107Q exm2253579 18 8778916 [A/G] NM_015210 SOGA2 Silent exm1374331 18 8783762 [A/G] NM_015210 SOGA2 EXON Missense_A218T exm1374334 18 8783835 [T/C] NM_015210 SOGA2 EXON Missense_M242T exm1374336 18 8783862 [G/C] NM_015210 SOGA2 EXON Missense_P251R exm1374337 18 8783867 [T/C] NM_015210 SOGA2 EXON Missense_R253W exm2228100 18 8783976 [A/G] NM_015210 SOGA2 EXON Missense_R289Q exm1374348 18 8784008 [T/C] NM_015210 SOGA2 EXON Missense_R300W exm1374353 18 8784080 [A/G] NM_015210 SOGA2 EXON Missense_A324T exm1374356 18 8784105 [A/C] NM_015210 SOGA2 EXON Missense_A332D exm1374359 18 8784174 [A/T] NM_015210 SOGA2 EXON Missense_L355Q exm1374369 18 8784314 [T/C] NM_015210 SOGA2 EXON Missense_R402C exm1374370 18 8784332 [T/C] NM_015210 SOGA2 EXON Missense_R408W exm1374375 18 8784373 [A/G] NM_015210 SOGA2 EXON Missense_M421I exm1374377 18 8784387 [T/C] NM_015210 SOGA2 EXON Missense_S426L exm1374380 18 8784402 [G/C] NM_015210 SOGA2 EXON Missense_G431A exm1374388 18 8784510 [T/C] NM_015210 SOGA2 EXON Missense_T467M exm1918048 18 8784518 [T/C] NM_015210 SOGA2 EXON Missense_R470C exm1374392 18 8784528 [T/C] NM_015210 SOGA2 EXON Missense_T473M exm1374395 18 8784555 [T/C] NM_015210 SOGA2 EXON Missense_A482V exm1374409 18 8784717 [T/C] NM_015210 SOGA2 EXON Missense_I536T exm1374412 18 8784723 [A/G] NM_015210 SOGA2 EXON Missense_D538G exm1374420 18 8784791 [T/C] NM_015210 SOGA2 EXON Missense_R561W exm1374462 18 8796315 [C/G] NM_015210 SOGA2 EXON Missense_T699S exm1374464 18 8796354 [A/G] NM_015210 SOGA2 EXON Missense_R712Q exm1374472 18 8798156 [T/C] NM_015210 SOGA2 EXON Missense_A768V exm1374473 18 8798185 [A/G] NM_015210 SOGA2 EXON Missense_G778S exm1374477 18 8798218 [G/C] NM_015210 SOGA2 EXON Missense_H789D exm1374481 18 8798252 [A/G] NM_015210 SOGA2 EXON Missense_R800Q exm1374486 18 8806916 [A/G] NM_015210 SOGA2 EXON Missense_S821N exm1374487 18 8806925 [A/G] NM_015210 SOGA2 EXON Missense_K824R exm1374496 18 8813046 [A/C] NM_015210 SOGA2 EXON Missense_K892Q exm1374512 18 8819075 [A/G] NM_015210 SOGA2 EXON Missense_M992V exm1374514 18 8819117 [T/C] NM_015210 SOGA2 EXON Missense_R1006W exm1374517 18 8819228 [A/G] NM_015210 SOGA2 EXON Missense_E1043K exm1374518 18 8819246 [T/C] NM_015210 SOGA2 EXON Missense_R1049C exm1374522 18 8824766 [C/G] NM_015210 SOGA2 EXON Missense_K1086N exm1374523 18 8824774 [T/C] NM_015210 SOGA2 EXON Missense_P1089L exm1374529 18 8824882 [A/G] NM_015210 SOGA2 EXON Missense_N1125S exm1374533 18 8824906 [A/C] NM_015210 SOGA2 EXON Missense_A1133D exm1374535 18 8824926 [T/C] NM_015210 SOGA2 EXON Missense_R1140W exm1374554 18 8825103 [A/G] NM_015210 SOGA2 EXON Missense_V1199M exm1374556 18 8825176 [T/C] NM_015210 SOGA2 EXON Missense_P1223L exm1374569 18 8825271 [T/C] NM_015210 SOGA2 EXON Missense_R1255C exm1374571 18 8825286 [T/C] NM_015210 SOGA2 EXON Missense_P1260S exm1374572 18 8825289 [T/C] NM_015210 SOGA2 EXON Missense_L1261F exm1374579 18 8825409 [A/G] NM_015210 SOGA2 EXON Missense_E1301K exm1374585 18 8825479 [C/G] NM_015210 SOGA2 EXON Missense_T1324S exm1374590 18 8825584 [T/C] NM_015210 SOGA2 EXON Missense_S1359L exm1374616 18 8825946 [A/G] NM_015210 SOGA2 EXON Missense_G1480S exm1374618 18 8825995 [T/C] NM_015210 SOGA2 EXON Missense_P1496L exm1374622 18 8826090 [A/G] NM_015210 SOGA2 EXON Missense_E1528K exm1374624 18 8826164 [C/G] NM_015210 SOGA2 EXON Missense_H1552Q exm1374629 18 8828918 [T/G] NM_015210 SOGA2 EXON Missense_L1579V exm2272714 18 8857074 [T/C] exm-IND18-9094204 18 9104205 [D/I] NM_021074 NDUFV2 exm1374647 18 9117899 [A/G] NM_021074 NDUFV2 EXON Missense_V40M exm1374658 18 9122532 [A/C] NM_021074 NDUFV2 EXON Missense_P108T exm1374665 18 9124917 [T/C] NM_021074 NDUFV2 EXON Missense_I172T exm1374676 18 9134263 [T/C] NM_021074 NDUFV2 EXON Nonsense_Q246X exm1374684 18 9195598 [C/G] NM_001083625,NM_015208,NM_001204056 ANKRD12,ANKRD12,ANKRD12 EXON Missense_S46T,Missense_S46T,Missense_S46T exm1374701 18 9221883 [C/G] NM_001083625,NM_015208,NM_001204056 ANKRD12,ANKRD12,ANKRD12 EXON Missense_P254A,Missense_P277A,Missense_P254A exm1374712 18 9254308 [T/C] NM_001083625,NM_015208,NM_001204056 ANKRD12,ANKRD12,ANKRD12 EXON Missense_L325P,Missense_L348P,Missense_L325P exm2228112 18 9254406 [T/C] NM_001083625,NM_015208,NM_001204056 ANKRD12,ANKRD12,ANKRD12 EXON Missense_L358F,Missense_L381F,Missense_L358F exm1374713 18 9254447 [A/C] NM_001083625,NM_015208,NM_001204056 ANKRD12,ANKRD12,ANKRD12 EXON Missense_E371D,Missense_E394D,Missense_E371D exm1374720 18 9254626 [T/C] NM_001083625,NM_015208,NM_001204056 ANKRD12,ANKRD12,ANKRD12 EXON Missense_M431T,Missense_M454T,Missense_M431T exm1374722 18 9254652 [A/T] NM_001083625,NM_015208,NM_001204056 ANKRD12,ANKRD12,ANKRD12 EXON Missense_S440T,Missense_S463T,Missense_S440T exm1374727 18 9254785 [T/C] NM_001083625,NM_015208,NM_001204056 ANKRD12,ANKRD12,ANKRD12 EXON Missense_T484I,Missense_T507I,Missense_T484I exm1374730 18 9254857 [C/G] NM_001083625,NM_015208,NM_001204056 ANKRD12,ANKRD12,ANKRD12 EXON Missense_T508S,Missense_T531S,Missense_T508S exm1374737 18 9255003 [A/C] NM_001083625,NM_015208,NM_001204056 ANKRD12,ANKRD12,ANKRD12 EXON Missense_L557I,Missense_L580I,Missense_L557I exm1374739 18 9255009 [C/G] NM_001083625,NM_015208,NM_001204056 ANKRD12,ANKRD12,ANKRD12 EXON Missense_R559G,Missense_R582G,Missense_R559G exm1374740 18 9255081 [A/G] NM_001083625,NM_015208,NM_001204056 ANKRD12,ANKRD12,ANKRD12 EXON Missense_S583G,Missense_S606G,Missense_S583G exm1374751 18 9255471 [A/G] NM_001083625,NM_015208,NM_001204056 ANKRD12,ANKRD12,ANKRD12 EXON Missense_T713A,Missense_T736A,Missense_T713A exm1374757 18 9255573 [G/C] NM_001083625,NM_015208,NM_001204056 ANKRD12,ANKRD12,ANKRD12 EXON Missense_L747V,Missense_L770V,Missense_L747V exm1374762 18 9255707 [T/G] NM_001083625,NM_015208,NM_001204056 ANKRD12,ANKRD12,ANKRD12 EXON Missense_H791Q,Missense_H814Q,Missense_H791Q exm1374763 18 9255718 [A/G] NM_001083625,NM_015208,NM_001204056 ANKRD12,ANKRD12,ANKRD12 EXON Missense_S795N,Missense_S818N,Missense_S795N exm1374764 18 9255784 [A/C] NM_001083625,NM_015208,NM_001204056 ANKRD12,ANKRD12,ANKRD12 EXON Missense_T817N,Missense_T840N,Missense_T817N exm1374766 18 9255788 [T/G] NM_001083625,NM_015208,NM_001204056 ANKRD12,ANKRD12,ANKRD12 EXON Missense_F818L,Missense_F841L,Missense_F818L exm1374775 18 9255889 [T/C] NM_001083625,NM_015208,NM_001204056 ANKRD12,ANKRD12,ANKRD12 EXON Missense_S852L,Missense_S875L,Missense_S852L exm1374780 18 9255982 [A/G] NM_001083625,NM_015208,NM_001204056 ANKRD12,ANKRD12,ANKRD12 EXON Missense_K883R,Missense_K906R,Missense_K883R exm1374783 18 9256046 [A/C] NM_001083625,NM_015208,NM_001204056 ANKRD12,ANKRD12,ANKRD12 EXON Missense_E904D,Missense_E927D,Missense_E904D exm2253583 18 9256064 [A/G] NM_001083625,NM_015208,NM_001204056 ANKRD12,ANKRD12,ANKRD12 EXON Synonymous_K910K,Synonymous_K933K,Synonymous_K910K exm2274994 18 9256189 [A/C] NM_001083625,NM_015208,NM_001204056 ANKRD12,ANKRD12,ANKRD12 EXON Missense_S952Y,Missense_S975Y,Missense_S952Y exm1374795 18 9256216 [T/C] NM_001083625,NM_015208,NM_001204056 ANKRD12,ANKRD12,ANKRD12 EXON Missense_S961L,Missense_S984L,Missense_S961L exm1374796 18 9256230 [A/G] NM_001083625,NM_015208,NM_001204056 ANKRD12,ANKRD12,ANKRD12 EXON Missense_G966S,Missense_G989S,Missense_G966S exm1374797 18 9256258 [T/C] NM_001083625,NM_015208,NM_001204056 ANKRD12,ANKRD12,ANKRD12 EXON Missense_L975S,Missense_L998S,Missense_L975S exm1374800 18 9256270 [T/A] NM_001083625,NM_015208,NM_001204056 ANKRD12,ANKRD12,ANKRD12 EXON Missense_E979V,Missense_E1002V,Missense_E979V exm1374801 18 9256299 [A/C] NM_001083625,NM_015208,NM_001204056 ANKRD12,ANKRD12,ANKRD12 EXON Missense_P989T,Missense_P1012T,Missense_P989T exm2274995 18 9256786 [T/C] NM_001083625,NM_015208,NM_001204056 ANKRD12,ANKRD12,ANKRD12 EXON Missense_T1151I,Missense_T1174I,Missense_T1151I exm2228116 18 9257019 [A/G] NM_001083625,NM_015208,NM_001204056 ANKRD12,ANKRD12,ANKRD12 EXON Missense_I1229V,Missense_I1252V,Missense_I1229V exm2228117 18 9257184 [A/G] NM_001083625,NM_015208,NM_001204056 ANKRD12,ANKRD12,ANKRD12 EXON Missense_V1284I,Missense_V1307I,Missense_V1284I exm1374845 18 9257241 [A/G] NM_001083625,NM_015208,NM_001204056 ANKRD12,ANKRD12,ANKRD12 EXON Missense_I1303V,Missense_I1326V,Missense_I1303V exm1374850 18 9257349 [T/G] NM_001083625,NM_015208,NM_001204056 ANKRD12,ANKRD12,ANKRD12 EXON Missense_V1339L,Missense_V1362L,Missense_V1339L exm1374851 18 9257376 [A/G] NM_001083625,NM_015208,NM_001204056 ANKRD12,ANKRD12,ANKRD12 EXON Missense_T1348A,Missense_T1371A,Missense_T1348A exm1374855 18 9257448 [A/G] NM_001083625,NM_015208,NM_001204056 ANKRD12,ANKRD12,ANKRD12 EXON Missense_V1372M,Missense_V1395M,Missense_V1372M exm1374862 18 9257577 [A/G] NM_001083625,NM_015208,NM_001204056 ANKRD12,ANKRD12,ANKRD12 EXON Missense_N1415D,Missense_N1438D,Missense_N1415D exm1374868 18 9257697 [A/T] NM_001083625,NM_015208,NM_001204056 ANKRD12,ANKRD12,ANKRD12 EXON Missense_C1455S,Missense_C1478S,Missense_C1455S exm1374875 18 9257802 [T/C] NM_001083625,NM_015208,NM_001204056 ANKRD12,ANKRD12,ANKRD12 EXON Missense_Y1490H,Missense_Y1513H,Missense_Y1490H exm1374876 18 9257934 [A/C] NM_001083625,NM_015208,NM_001204056 ANKRD12,ANKRD12,ANKRD12 EXON Missense_T1534P,Missense_T1557P,Missense_T1534P exm1374886 18 9258063 [G/C] NM_001083625,NM_015208,NM_001204056 ANKRD12,ANKRD12,ANKRD12 EXON Missense_L1577V,Missense_L1600V,Missense_L1577V exm1374891 18 9258135 [A/C] NM_001083625,NM_015208,NM_001204056 ANKRD12,ANKRD12,ANKRD12 EXON Missense_T1601P,Missense_T1624P,Missense_T1601P exm1374898 18 9258208 [A/G] NM_001083625,NM_015208,NM_001204056 ANKRD12,ANKRD12,ANKRD12 EXON Missense_C1625Y,Missense_C1648Y,Missense_C1625Y exm1374913 18 9258537 [T/C] NM_001083625,NM_015208,NM_001204056 ANKRD12,ANKRD12,ANKRD12 EXON Missense_S1735P,Missense_S1758P,Missense_S1735P exm1374923 18 9258814 [A/G] NM_001083625,NM_015208,NM_001204056 ANKRD12,ANKRD12,ANKRD12 EXON Missense_R1827H,Missense_R1850H,Missense_R1827H exm1374945 18 9360013 [A/G] NM_020648 TWSG1 EXON Missense_C56Y exm1374955 18 9396476 [A/C] NM_020648 TWSG1 EXON Missense_N141T exm1374957 18 9396524 [T/C] NM_020648 TWSG1 EXON Missense_A157V exm1374963 18 9399485 [A/G] NM_020648 TWSG1 EXON Missense_Y211C exm2253586 18 9478794 [T/C] NM_006788 RALBP1 Silent exm1374977 18 9517221 [A/G] NM_006788 RALBP1 EXON Missense_R208Q exm1374989 18 9522418 [A/G] NM_006788 RALBP1 EXON Missense_I322V exm1375019 18 9535817 [T/C] NM_006788 RALBP1 EXON Missense_A617V exm1375022 18 9535826 [T/C] NM_006788 RALBP1 EXON Missense_P620L exm1375025 18 9535840 [A/G] NM_006788 RALBP1 EXON Missense_V625I exm1375026 18 9535867 [G/C] NM_006788 RALBP1 EXON Missense_Q634E exm2264664 18 9536315 [A/C] NM_006788 RALBP1 EXON Silent exm1375039 18 9547898 [G/C] NR_052003,NM_001042388,NM_005134 PPP4R1,PPP4R1,PPP4R1 EXON Silent,Missense_I914M,Missense_I897M exm1375042 18 9547947 [T/C] NR_052003,NM_001042388,NM_005134 PPP4R1,PPP4R1,PPP4R1 EXON Silent,Missense_Y898C,Missense_Y881C exm1375052 18 9550157 [T/C] NR_052003,NM_001042388,NM_005134 PPP4R1,PPP4R1,PPP4R1 EXON Silent,Missense_A814T,Missense_A797T exm1375071 18 9562042 [T/C] NR_052003,NM_001042388,NM_005134 PPP4R1,PPP4R1,PPP4R1 EXON Silent,Missense_S593N,Missense_S576N exm1375074 18 9563454 [A/C] NR_052003,NM_001042388,NM_005134 PPP4R1,PPP4R1,PPP4R1 EXON Silent,Missense_D556E,Missense_D539E exm1375076 18 9563497 [T/C] NR_052003,NM_001042388,NM_005134 PPP4R1,PPP4R1,PPP4R1 EXON Silent,Missense_H542R,Missense_H525R exm1375083 18 9570161 [T/C] NR_052003,NM_001042388,NM_005134 PPP4R1,PPP4R1,PPP4R1 EXON Silent,Missense_V523I,Missense_V506I exm1375087 18 9570320 [T/C] NR_052003,NM_001042388,NM_005134 PPP4R1,PPP4R1,PPP4R1 EXON Silent,Missense_I470V,Missense_I453V exm1375094 18 9570575 [G/C] NR_052003,NM_001042388,NM_005134 PPP4R1,PPP4R1,PPP4R1 EXON Silent,Missense_D385H,Missense_D368H exm1375095 18 9570592 [A/G] NR_052003,NM_001042388,NM_005134 PPP4R1,PPP4R1,PPP4R1 EXON Silent,Missense_L379P,Missense_L362P exm1375096 18 9570649 [T/G] NR_052003,NM_001042388,NM_005134 PPP4R1,PPP4R1,PPP4R1 EXON Silent,Missense_Q360P,Missense_Q343P exm1918492 18 9583132 [T/C] NR_052003,NM_001042388,NM_005134 PPP4R1,PPP4R1,PPP4R1 EXON Silent,Missense_S301G,Missense_S284G exm1918495 18 9583200 [A/G] NR_052003,NM_001042388,NM_005134 PPP4R1,PPP4R1,PPP4R1 EXON Silent,Missense_A278V,Missense_A261V exm1375109 18 9584557 [T/C] NR_052003,NM_001042388,NM_005134 PPP4R1,PPP4R1,PPP4R1 EXON Silent,Missense_D239N,Missense_D222N exm1375132 18 9595090 [A/C] NR_052003,NM_001042388,NM_005134 PPP4R1,PPP4R1,PPP4R1 EXON Silent,Missense_F38L,Missense_F21L exm2253590 18 9782448 [T/C] NM_006868 RAB31 Silent exm-rs9945476 18 9786265 [A/G] NM_006868 RAB31 Silent exm1375149 18 9815201 [A/G] NM_006868 RAB31 EXON Missense_C121Y exm1375152 18 9859227 [T/C] NM_006868 RAB31 EXON Missense_R165C exm1375153 18 9859228 [A/G] NM_006868 RAB31 EXON Missense_R165H exm2273561 18 9859341 [T/C] NM_006868 RAB31 EXON Silent exm1375163 18 9886615 [A/G] NM_032243,NM_001098529 TXNDC2,TXNDC2 EXON Silent,Missense_V47M exm1375164 18 9886619 [T/C] NM_032243,NM_001098529 TXNDC2,TXNDC2 EXON Silent,Missense_P48L exm1375196 18 9887192 [T/C] NM_032243,NM_001098529 TXNDC2,TXNDC2 EXON Missense_I172T,Missense_I239T exm1375228 18 9887572 [A/G] NM_032243,NM_001098529 TXNDC2,TXNDC2 EXON Missense_A299T,Missense_A366T exm1375248 18 9887806 [T/G] NM_032243,NM_001098529 TXNDC2,TXNDC2 EXON Missense_F377V,Missense_F444V exm1375251 18 9887857 [A/G] NM_032243,NM_001098529 TXNDC2,TXNDC2 EXON Missense_A394T,Missense_A461T exm1375252 18 9887872 [A/G] NM_032243,NM_001098529 TXNDC2,TXNDC2 EXON Missense_A399T,Missense_A466T exm1375254 18 9887875 [A/G] NM_032243,NM_001098529 TXNDC2,TXNDC2 EXON Missense_G400R,Missense_G467R exm2276564 18 9887977 [A/G] NM_032243,NM_001098529 TXNDC2,TXNDC2 EXON Missense_V434M,Missense_V501M exm1375264 18 9888028 [A/G] NM_032243,NM_001098529 TXNDC2,TXNDC2 EXON Missense_A451T,Missense_A518T exm1375268 18 9888091 [A/G] NM_032243,NM_001098529 TXNDC2,TXNDC2 EXON Missense_G472S,Missense_G539S exm1375281 18 9931945 [C/G] NM_194434,NM_003574 VAPA,VAPA EXON Missense_T73S,Missense_T73S exm1375287 18 9944924 [A/G] NM_194434,NM_003574 VAPA,VAPA EXON Silent,Missense_I141V exm1375288 18 9944934 [T/C] NM_194434,NM_003574 VAPA,VAPA EXON Silent,Missense_P144L exm1375290 18 9944960 [A/G] NM_194434,NM_003574 VAPA,VAPA EXON Silent,Missense_M153V exm1375291 18 9945005 [A/G] NM_194434,NM_003574 VAPA,VAPA EXON Silent,Missense_T168A exm1375303 18 9950508 [T/G] NM_194434,NM_003574 VAPA,VAPA EXON Missense_E178D,Missense_E223D exm1375304 18 9950534 [T/C] NM_194434,NM_003574 VAPA,VAPA EXON Missense_M187T,Missense_M232T exm1909254 18 10471658 [A/G] NM_153000 APCDD1 EXON Missense_R125Q exm1375340 18 10471789 [T/C] NM_153000 APCDD1 EXON Missense_R169C exm2253333 18 10478759 [T/C] NM_153000 APCDD1 Silent exm1375364 18 10485549 [A/G] NM_153000 APCDD1 EXON Missense_I289V exm1375366 18 10485561 [A/G] NM_153000 APCDD1 EXON Missense_G293R exm1375367 18 10485580 [A/G] NM_153000 APCDD1 EXON Missense_R299H exm1375368 18 10485612 [A/C] NM_153000 APCDD1 EXON Missense_T310P exm1375371 18 10485711 [A/G] NM_153000 APCDD1 EXON Missense_A343T exm1375376 18 10485730 [A/G] NM_153000 APCDD1 EXON Missense_R349H exm1375380 18 10485735 [A/G] NM_153000 APCDD1 EXON Missense_V351I exm1375393 18 10487733 [A/G] NM_153000 APCDD1 EXON Missense_I415V exm1375394 18 10487749 [T/C] NM_153000 APCDD1 EXON Missense_T420M exm1375397 18 10487822 [A/C] NM_153000 APCDD1 EXON Missense_S444R exm1375407 18 10487950 [A/G] NM_153000 APCDD1 EXON Missense_R487Q exm1375409 18 10487974 [C/G] NM_153000 APCDD1 EXON Missense_S495C exm1375430 18 10539774 [T/C] NM_003826 NAPG EXON Missense_P92S exm1375431 18 10539783 [A/G] NM_003826 NAPG EXON Missense_V95I exm1375434 18 10540014 [G/C] NM_003826 NAPG EXON Missense_A133G exm1375438 18 10540342 [A/G] NM_003826 NAPG EXON Missense_R151Q exm1375439 18 10540393 [A/G] NM_003826 NAPG EXON Missense_R168H exm2227614 18 10548372 [A/G] NM_003826 NAPG EXON Missense_Y221C exm1909295 18 10550121 [G/C] NM_003826 NAPG EXON Missense_K281N exm2268075 18 10597874 [A/G] exm1375464 18 10671666 [T/C] NM_022068 PIEZO2 EXON Missense_R2706Q exm1375472 18 10672766 [G/C] NM_022068 PIEZO2 EXON Missense_P2643A exm1375475 18 10675208 [T/G] NM_022068 PIEZO2 EXON Missense_S2607Y exm1375477 18 10675248 [A/G] NM_022068 PIEZO2 EXON Missense_P2594S exm1375479 18 10677762 [T/C] NM_022068 PIEZO2 EXON Missense_E2575G exm1375480 18 10677763 [T/C] NM_022068 PIEZO2 EXON Missense_E2575K exm1909300 18 10680326 [T/C] NM_022068 PIEZO2 EXON Missense_T2495A exm1375497 18 10681711 [T/C] NM_022068 PIEZO2 EXON Missense_V2463I exm1375500 18 10682220 [C/G] NM_022068 PIEZO2 EXON Missense_V2410L exm1375505 18 10689790 [T/C] NM_022068 PIEZO2 EXON Missense_V2341M exm1375512 18 10691286 [A/G] NM_022068 PIEZO2 EXON Missense_T2316M exm1375515 18 10691332 [T/C] NM_022068 PIEZO2 EXON Missense_V2301I exm1375520 18 10696097 [A/C] NM_022068 PIEZO2 EXON Missense_F2276V exm1375532 18 10696407 [T/C] NM_022068 PIEZO2 EXON Missense_G2207S exm1375545 18 10699087 [G/C] NM_022068 PIEZO2 EXON Missense_R2064T exm1375546 18 10699129 [T/G] NM_022068 PIEZO2 EXON Missense_A2050D exm1375547 18 10699142 [C/G] NM_022068 PIEZO2 EXON Missense_E2046Q exm1375557 18 10704619 [C/G] NM_022068 PIEZO2 EXON Missense_E1898Q exm1375559 18 10704637 [T/C] NM_022068 PIEZO2 EXON Missense_D1892N exm2253335 18 10705735 [T/C] NM_022068 PIEZO2 EXON Synonymous_T1753T exm1375573 18 10705744 [A/G] NM_022068 PIEZO2 EXON Synonymous_S1750S exm1375580 18 10731428 [T/C] NM_022068 PIEZO2 EXON Missense_R1611Q exm1375596 18 10750150 [C/G] NM_022068 PIEZO2 EXON Missense_H1376Q exm1375598 18 10752666 [T/C] NM_022068 PIEZO2 EXON Missense_V1354I exm1375602 18 10752860 [A/G] NM_022068 PIEZO2 EXON Missense_S1289F exm2227620 18 10758131 [A/G] NM_022068 PIEZO2 EXON Synonymous_Y1228Y exm1375605 18 10759507 [T/C] NM_022068 PIEZO2 EXON Missense_V1219M exm1375608 18 10759840 [A/C] NM_022068 PIEZO2 EXON Missense_C1148F exm1375637 18 10801401 [T/C] NM_022068 PIEZO2 EXON Missense_Y409C exm1375646 18 10857048 [G/C] NM_022068 PIEZO2 EXON Missense_M218I exm2264658 18 11259601 [A/C] exm2272716 18 11422601 [T/C] exm2268076 18 11506581 [A/G] exm2253338 18 11752462 [T/G] NM_182978,NM_001142339,NM_001261443 GNAL,GNAL,GNAL EXON Silent,Synonymous_T10T,Synonymous_T10T exm1375698 18 11851686 [A/G] NM_182978,NM_001142339,NM_001261443,NM_020412 GNAL,GNAL,GNAL,CHMP1B EXON Silent,Silent,Silent,Missense_K59R exm1375699 18 11851695 [A/C] NM_182978,NM_001142339,NM_001261443,NM_020412 GNAL,GNAL,GNAL,CHMP1B EXON Silent,Silent,Silent,Missense_A62E exm1375754 18 11884458 [A/G] NM_182978,NM_001142339,NM_001261443,NM_001261444,NR_040242,NR_040243,NR_040241,NM_023075,NM_001242904 GNAL,GNAL,GNAL,GNAL,MPPE1,MPPE1,MPPE1,MPPE1,MPPE1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_R393C,Missense_R330C exm1375768 18 11885746 [G/C] NR_040242,NR_040243,NR_040241,NM_023075,NM_001242904 MPPE1,MPPE1,MPPE1,MPPE1,MPPE1 EXON Silent,Silent,Silent,Missense_G313R,Missense_G250R exm1375771 18 11885772 [A/G] NR_040242,NR_040243,NR_040241,NM_023075,NM_001242904 MPPE1,MPPE1,MPPE1,MPPE1,MPPE1 EXON Silent,Silent,Silent,Missense_T304M,Missense_T241M exm2274996 18 11885781 [A/C] NR_040242,NR_040243,NR_040241,NM_023075,NM_001242904 MPPE1,MPPE1,MPPE1,MPPE1,MPPE1 EXON Silent,Silent,Silent,Missense_S301I,Missense_S238I exm1375777 18 11886515 [A/G] NR_040242,NR_040243,NR_040241,NM_023075,NM_001242904 MPPE1,MPPE1,MPPE1,MPPE1,MPPE1 EXON Silent,Silent,Silent,Missense_R284W,Silent exm1375784 18 11886735 [A/T] NR_040242,NR_040243,NR_040241,NM_023075,NM_001242904 MPPE1,MPPE1,MPPE1,MPPE1,MPPE1 EXON Silent,Silent,Silent,Missense_T241S,Silent exm1375786 18 11886761 [T/C] NR_040242,NR_040243,NR_040241,NM_023075,NM_001242904 MPPE1,MPPE1,MPPE1,MPPE1,MPPE1 EXON Silent,Silent,Silent,Missense_R232Q,Silent exm1375802 18 11887005 [T/C] NR_040242,NR_040243,NR_040241,NM_023075,NM_001242904 MPPE1,MPPE1,MPPE1,MPPE1,MPPE1 EXON Silent,Silent,Silent,Missense_V197M,Missense_V197M exm1375815 18 11888720 [A/G] NR_040242,NR_040243,NR_040241,NM_023075,NM_001242904 MPPE1,MPPE1,MPPE1,MPPE1,MPPE1 EXON Silent,Silent,Silent,Missense_R173C,Missense_R173C exm1375818 18 11889423 [T/C] NR_040242,NR_040243,NR_040241,NM_023075,NM_001242904 MPPE1,MPPE1,MPPE1,MPPE1,MPPE1 EXON Silent,Silent,Silent,Missense_V153I,Missense_V153I exm-rs4797585 18 11911143 [T/C] exm-rs7506045 18 11987272 [T/C] NM_014214 IMPA2 Silent exm1375851 18 12009901 [A/G] NM_014214 IMPA2 EXON Missense_A84T exm1375853 18 12009913 [A/G] NM_014214 IMPA2 EXON Missense_A88T exm2260729 18 12013384 [T/C] NM_014214 IMPA2 Silent exm1375867 18 12014301 [A/G] NM_014214 IMPA2 EXON Missense_R140Q exm1375868 18 12014310 [T/C] NM_014214 IMPA2 EXON Missense_T143M exm1375869 18 12014315 [T/C] NM_014214 IMPA2 EXON Missense_R145W exm1375871 18 12014325 [A/G] NM_014214 IMPA2 EXON Missense_R148Q exm1375873 18 12014354 [T/C] NM_014214 IMPA2 EXON Missense_R158W exm2272640 18 12083314 [T/C] exm-rs4797625 18 12130394 [A/G] exm1375920 18 12254395 [T/C] NM_001279,NR_036468 CIDEA,CIDEA EXON Missense_R5W,Silent exm1375942 18 12262897 [T/C] NM_001279,NR_036468 CIDEA,CIDEA EXON Missense_R38W,Silent exm1909421 18 12262928 [A/G] NM_001279,NR_036468 CIDEA,CIDEA EXON Missense_R48H,Silent exm1375952 18 12264399 [T/G] NM_001279,NR_036468 CIDEA,CIDEA EXON Missense_L93V,Silent exm1375953 18 12264415 [A/G] NM_001279,NR_036468 CIDEA,CIDEA EXON Missense_H98R,Silent exm1375966 18 12274200 [A/G] NM_001279,NR_036468 CIDEA,CIDEA EXON Missense_V147M,Silent exm1375977 18 12277150 [A/G] NM_001279,NR_036468 CIDEA,CIDEA EXON Missense_A181T,Silent exm1375980 18 12277201 [G/C] NM_001279,NR_036468 CIDEA,CIDEA EXON Missense_V198L,Silent exm1375991 18 12308316 [T/G] NM_032525 TUBB6 EXON Missense_A9S exm1375998 18 12308793 [G/C] NM_032525 TUBB6 EXON Synonymous_S55S exm1376051 18 12329611 [A/G] NM_006796 AFG3L2 EXON Missense_R783W exm1376054 18 12329644 [A/G] NM_006796 AFG3L2 EXON Missense_L772F exm1376058 18 12337348 [T/C] NM_006796 AFG3L2 EXON Missense_V723M exm1376109 18 12358902 [T/C] NM_006796 AFG3L2 EXON Missense_A265T exm1909488 18 12420324 [T/C] NM_006553,NM_001142405 SLMO1,SLMO1 EXON Synonymous_G11G,Synonymous_G11G exm1376163 18 12429361 [A/G] NM_006553,NM_001142405 SLMO1,SLMO1 EXON Missense_I160V,Missense_I160V exm2273562 18 12449632 [G/C] NM_001128627,NM_001128626,NM_020148 SPIRE1,SPIRE1,SPIRE1 EXON Silent,Silent,Silent exm1376174 18 12449725 [T/C] NM_001128627,NM_001128626,NM_020148 SPIRE1,SPIRE1,SPIRE1 EXON Missense_R594Q,Missense_R728Q,Missense_R714Q exm1376191 18 12454384 [T/A] NM_001128627,NM_001128626,NM_020148 SPIRE1,SPIRE1,SPIRE1 EXON Missense_Q445H,Missense_Q579H,Missense_Q565H exm1376198 18 12463405 [A/G] NM_001128627,NM_001128626,NM_020148 SPIRE1,SPIRE1,SPIRE1 EXON Missense_T394M,Missense_T528M,Missense_T514M exm1376202 18 12464867 [T/C] NM_001128627,NM_001128626,NM_020148 SPIRE1,SPIRE1,SPIRE1 EXON Missense_K365E,Missense_K499E,Missense_K485E exm1376207 18 12464950 [A/G] NM_001128627,NM_001128626,NM_020148 SPIRE1,SPIRE1,SPIRE1 EXON Missense_T337M,Missense_T471M,Missense_T457M exm2276565 18 12479788 [A/G] NM_001128627,NM_001128626,NM_020148 SPIRE1,SPIRE1,SPIRE1 EXON Synonymous_N304N,Synonymous_N438N,Synonymous_N424N exm1376218 18 12493088 [A/G] NM_001128627,NM_001128626,NM_020148 SPIRE1,SPIRE1,SPIRE1 EXON Missense_I271T,Missense_I391T,Missense_I391T exm1376241 18 12546695 [T/C] NM_001128627,NM_001128626,NM_020148 SPIRE1,SPIRE1,SPIRE1 EXON Missense_R74Q,Missense_R194Q,Missense_R194Q exm1376266 18 12674711 [A/G] NM_147163,NR_073537,NM_001271989,NM_024899 PSMG2,CEP76,CEP76,CEP76 EXON Silent,Silent,Synonymous_Y480Y,Synonymous_Y555Y exm1376268 18 12678131 [A/G] NM_147163,NR_073537,NM_001271989,NM_024899 PSMG2,CEP76,CEP76,CEP76 EXON Silent,Silent,Missense_L459F,Missense_L534F exm2227633 18 12678396 [T/G] NM_147163,NR_073537,NM_001271989,NM_024899 PSMG2,CEP76,CEP76,CEP76 EXON Silent,Silent,Missense_E370D,Missense_E445D exm1376285 18 12686398 [T/C] NM_147163,NR_073537,NM_001271989,NM_024899 PSMG2,CEP76,CEP76,CEP76 EXON Silent,Silent,Missense_A254T,Missense_A329T exm1376300 18 12697321 [G/C] NM_147163,NR_073537,NM_001271989,NM_024899 PSMG2,CEP76,CEP76,CEP76 EXON Silent,Silent,Missense_G128R,Missense_G203R exm1376303 18 12697354 [T/C] NM_147163,NR_073537,NM_001271989,NM_024899 PSMG2,CEP76,CEP76,CEP76 EXON Silent,Silent,Missense_I117V,Missense_I192V exm1376304 18 12698983 [T/C] NM_147163,NR_073537,NM_001271989,NM_024899 PSMG2,CEP76,CEP76,CEP76 EXON Silent,Silent,Silent,Missense_S172N exm1909549 18 12699070 [T/C] NM_147163,NR_073537,NM_001271989,NM_024899 PSMG2,CEP76,CEP76,CEP76 EXON Silent,Silent,Silent,Missense_R143Q exm1376319 18 12701067 [A/G] NM_147163,NR_073537,NM_001271989,NM_024899 PSMG2,CEP76,CEP76,CEP76 EXON Silent,Silent,Missense_R37W,Missense_R37W exm1376328 18 12703140 [T/C] NM_147163,NM_020232 PSMG2,PSMG2 EXON Silent,Missense_L12F exm1376329 18 12703146 [A/G] NM_147163,NM_020232 PSMG2,PSMG2 EXON Silent,Missense_G14S exm2274997 18 12706654 [A/C] NM_147163,NM_020232 PSMG2,PSMG2 EXON Missense_M24L,Missense_M55L exm1376338 18 12706672 [T/C] NM_147163,NM_020232 PSMG2,PSMG2 EXON Missense_Y30H,Missense_Y61H exm1376340 18 12706682 [T/C] NM_147163,NM_020232 PSMG2,PSMG2 EXON Missense_T33I,Missense_T64I exm1376342 18 12712716 [T/C] NM_147163,NM_020232 PSMG2,PSMG2 EXON Missense_S51L,Missense_S82L exm1376343 18 12712718 [A/G] NM_147163,NM_020232 PSMG2,PSMG2 EXON Missense_R52G,Missense_R83G exm-rs2302768 18 12718593 [A/G] NM_147163,NM_020232 PSMG2,PSMG2 EXON Synonymous_S91S,Synonymous_S122S exm1376348 18 12718631 [A/G] NM_147163,NM_020232 PSMG2,PSMG2 EXON Missense_R104H,Missense_R135H exm1909567 18 12720640 [A/G] NM_147163,NM_020232 PSMG2,PSMG2 EXON Missense_R149H,Missense_R180H exm1376365 18 12725451 [A/C] NM_147163,NM_020232 PSMG2,PSMG2 EXON Missense_T208K,Missense_T239K exm1376368 18 12725466 [A/G] NM_147163,NM_020232 PSMG2,PSMG2 EXON Missense_R213Q,Missense_R244Q exm-rs2542151 18 12779947 [T/G] exm1376385 18 12801997 [C/G] NM_001207013,NM_080423,NM_080422,NM_002828 PTPN2,PTPN2,PTPN2,PTPN2 EXON Missense_Q361E,Missense_Q338E,Missense_Q338E,Missense_Q338E exm1376389 18 12802117 [A/C] NM_001207013,NM_080423,NM_080422,NM_002828 PTPN2,PTPN2,PTPN2,PTPN2 EXON Missense_S321A,Missense_S298A,Missense_S298A,Missense_S298A exm-rs1893217 18 12809340 [A/G] NM_001207013,NM_080423,NM_080422,NM_002828 PTPN2,PTPN2,PTPN2,PTPN2 Silent,Silent,Silent,Silent exm1376391 18 12814321 [T/C] NM_001207013,NM_080423,NM_080422,NM_002828 PTPN2,PTPN2,PTPN2,PTPN2 EXON Missense_V270M,Missense_V247M,Missense_V247M,Missense_V247M exm1376392 18 12814330 [T/C] NM_001207013,NM_080423,NM_080422,NM_002828 PTPN2,PTPN2,PTPN2,PTPN2 EXON Missense_I267V,Missense_I244V,Missense_I244V,Missense_I244V exm1376396 18 12817160 [T/C] NM_001207013,NM_080423,NM_080422,NM_002828 PTPN2,PTPN2,PTPN2,PTPN2 EXON Missense_V257I,Missense_V234I,Missense_V234I,Missense_V234I exm1376399 18 12817348 [T/G] NM_001207013,NM_080423,NM_080422,NM_002828 PTPN2,PTPN2,PTPN2,PTPN2 EXON Missense_T194K,Missense_T171K,Missense_T171K,Missense_T171K exm-rs2847281 18 12821593 [A/G] NM_001207013,NM_080423,NM_080422,NM_002828 PTPN2,PTPN2,PTPN2,PTPN2 Silent,Silent,Silent,Silent exm1376407 18 12836807 [T/C] NM_001207013,NM_080423,NM_080422,NM_002828 PTPN2,PTPN2,PTPN2,PTPN2 EXON Missense_S82G,Missense_S82G,Missense_S82G,Missense_S82G exm1376421 18 12948134 [G/C] NM_031216,NM_001013437 SEH1L,SEH1L EXON Missense_R5P,Missense_R5P exm1376428 18 12951878 [A/G] NM_031216,NM_001013437 SEH1L,SEH1L EXON Missense_D46N,Missense_D46N exm1909606 18 12963157 [A/G] NM_031216,NM_001013437 SEH1L,SEH1L Silent,Silent exm1376448 18 12971205 [A/G] NM_031216,NM_001013437 SEH1L,SEH1L EXON Missense_N192S,Missense_N192S exm1376467 18 12984144 [A/C] NM_031216,NM_001013437 SEH1L,SEH1L EXON Missense_T342N,Missense_T342N exm1376473 18 12986917 [C/G] NM_031216,NM_001013437 SEH1L,SEH1L EXON Silent,Missense_A376G exm1376479 18 12987018 [T/C] NM_031216,NM_001013437 SEH1L,SEH1L EXON Silent,Missense_R410W exm1376481 18 12999533 [T/G] NM_032142 CEP192 EXON Missense_G37V exm1376482 18 12999563 [A/G] NM_032142 CEP192 EXON Missense_R47K exm1376485 18 13001488 [A/G] NM_032142 CEP192 EXON Missense_E66G exm1376486 18 13001490 [A/G] NM_032142 CEP192 EXON Missense_G67R exm1376487 18 13001512 [G/C] NM_032142 CEP192 EXON Missense_G74A exm1376490 18 13008497 [C/G] NM_032142 CEP192 EXON Missense_L111F exm1376499 18 13015389 [G/C] NM_032142 CEP192 EXON Missense_H194Q exm1376502 18 13018509 [T/C] NM_032142 CEP192 EXON Missense_F274L exm1376509 18 13029947 [A/G] NM_032142 CEP192 EXON Missense_T446A exm1376510 18 13029986 [A/G] NM_032142 CEP192 EXON Missense_E459K exm1376519 18 13038431 [A/G] NM_032142 CEP192 EXON Synonymous_T554T exm2253342 18 13038431 [A/G] NM_032142 CEP192 EXON Synonymous_T554T exm1376526 18 13042247 [A/G] NM_032142 CEP192 EXON Missense_I661V exm1376535 18 13049020 [A/G] NM_032142 CEP192 EXON Missense_K744E exm1376538 18 13049114 [A/G] NM_032142 CEP192 EXON Missense_G775E exm1376544 18 13049213 [T/C] NM_032142 CEP192 EXON Missense_T808I exm1376547 18 13049264 [T/C] NM_032142 CEP192 EXON Missense_V825A exm1376548 18 13049279 [T/C] NM_032142 CEP192 EXON Missense_T830I exm1376549 18 13049284 [A/G] NM_032142 CEP192 EXON Missense_V832I exm1376550 18 13049288 [A/G] NM_032142 CEP192 EXON Missense_S833N exm1376561 18 13049518 [A/G] NM_032142 CEP192 EXON Missense_V910M exm1376572 18 13049797 [A/G] NM_032142 CEP192 EXON Missense_R975H exm1376579 18 13049810 [T/G] NM_032142 CEP192 EXON Missense_D979E exm1376581 18 13049812 [A/G] NM_032142 CEP192 EXON Missense_E980G exm1376582 18 13049813 [T/G] NM_032142 CEP192 EXON Missense_E980D exm1376583 18 13049814 [G/C] NM_032142 CEP192 EXON Missense_Q981E exm1376584 18 13049815 [A/G] NM_032142 CEP192 EXON Missense_Q981R exm1376585 18 13049817 [A/G] NM_032142 CEP192 EXON Missense_E982K exm1909623 18 13053057 [A/G] NM_032142 CEP192 EXON Missense_T1053A exm1376605 18 13053066 [T/G] NM_032142 CEP192 EXON Missense_D1056Y exm1376608 18 13055842 [T/C] NM_032142 CEP192 EXON Missense_R1085W exm1376610 18 13055915 [A/C] NM_032142 CEP192 EXON Missense_Q1109P exm1376612 18 13056022 [A/G] NM_032142 CEP192 EXON Missense_G1145R exm1376613 18 13056046 [A/G] NM_032142 CEP192 EXON Missense_V1153I exm1376616 18 13056065 [G/C] NM_032142 CEP192 EXON Missense_P1159R exm1376620 18 13056155 [A/G] NM_032142 CEP192 EXON Missense_C1189Y exm1376622 18 13056215 [A/G] NM_032142 CEP192 EXON Missense_R1209H exm1376623 18 13056230 [A/G] NM_032142 CEP192 EXON Missense_Q1214R exm2227637 18 13056488 [G/C] NM_032142 CEP192 EXON Missense_A1300G exm1909631 18 13056495 [T/G] NM_032142 CEP192 EXON Missense_E1302D exm1376634 18 13056535 [A/T] NM_032142 CEP192 EXON Missense_S1316T exm1376640 18 13056620 [T/C] NM_032142 CEP192 EXON Missense_T1344I exm1376644 18 13056682 [A/G] NM_032142 CEP192 EXON Missense_V1365M exm1376652 18 13057655 [T/C] NM_032142 CEP192 EXON Missense_L1394F exm1376654 18 13057673 [A/G] NM_032142 CEP192 EXON Missense_T1400A exm1376663 18 13059175 [T/C] NM_032142 CEP192 EXON Missense_S1451F exm1376677 18 13068109 [A/G] NM_032142 CEP192 EXON Missense_R1544H exm1376680 18 13068132 [T/C] NM_032142 CEP192 EXON Missense_S1552P exm1376686 18 13068234 [C/G] NM_032142 CEP192 EXON Missense_Q1586E exm1376691 18 13068878 [T/C] NM_032142 CEP192 EXON Missense_S1617L exm1376699 18 13069107 [A/G] NM_032142 CEP192 EXON Missense_K1661R exm1376701 18 13069737 [A/G] NM_032142 CEP192 EXON Missense_V1686I exm1376703 18 13069782 [T/C] NM_032142 CEP192 EXON Missense_L1701F exm1376709 18 13071076 [A/G] NM_032142 CEP192 EXON Missense_Y1738C exm1376717 18 13072830 [C/G] NM_032142 CEP192 EXON Missense_Q1809E exm1376718 18 13072831 [A/G] NM_032142 CEP192 EXON Missense_Q1809R exm1376720 18 13073072 [A/G] NM_032142 CEP192 EXON Missense_K1835R exm1376723 18 13087047 [A/G] NM_032142 CEP192 EXON Missense_N1883S exm1376736 18 13087596 [A/G] NM_032142 CEP192 EXON Missense_T1982A exm1376747 18 13092391 [A/G] NM_032142 CEP192 EXON Missense_Q2040R exm1376750 18 13092424 [A/G] NM_032142 CEP192 EXON Missense_S2051N exm1376759 18 13095591 [A/G] NM_032142 CEP192 EXON Missense_R2115Q exm1376763 18 13095609 [T/C] NM_032142 CEP192 EXON Missense_L2121P exm1376767 18 13095654 [A/G] NM_032142 CEP192 EXON Missense_H2136R exm1376775 18 13096305 [G/C] NM_032142 CEP192 EXON Missense_E2186Q exm1376782 18 13100326 [A/G] NM_032142 CEP192 EXON Missense_R2229Q exm1376785 18 13100377 [T/C] NM_032142 CEP192 EXON Missense_F2246S exm1376787 18 13100451 [A/G] NM_032142 CEP192 EXON Missense_K2271E exm1376811 18 13116432 [T/G] NM_032142 CEP192 EXON Missense_R2449L exm1376823 18 13124693 [T/C] NM_032142 CEP192 EXON Missense_A2513V exm2272642 18 13157966 [T/G] exm2260731 18 13261896 [A/G] NM_181482,NM_181481 LDLRAD4,LDLRAD4 Silent,Silent exm2272643 18 13317297 [T/C] NM_181482,NM_181481 LDLRAD4,LDLRAD4 Silent,Silent exm1376836 18 13438324 [A/G] NM_181482,NM_181481 LDLRAD4,LDLRAD4 EXON Missense_N41S,Missense_N41S exm-rs1149360 18 13540713 [T/G] NM_181482,NM_181481 LDLRAD4,LDLRAD4 Silent,Silent exm1909679 18 13621151 [A/G] NM_181482,NM_181481,NM_001003674,NM_001003675,NM_001276249,NM_181483,NM_004338 LDLRAD4,LDLRAD4,LDLRAD4,LDLRAD4,LDLRAD4,LDLRAD4,LDLRAD4 EXON Missense_V73M,Missense_V73M,Missense_V36M,Missense_V36M,Silent,Missense_V15M,Missense_V15M exm1376849 18 13621227 [A/G] NM_181482,NM_181481,NM_001003674,NM_001003675,NM_001276249,NM_181483,NM_004338 LDLRAD4,LDLRAD4,LDLRAD4,LDLRAD4,LDLRAD4,LDLRAD4,LDLRAD4 EXON Missense_N98S,Missense_N98S,Missense_N61S,Missense_N61S,Missense_N21S,Missense_N40S,Missense_N40S exm1376851 18 13621230 [A/G] NM_181482,NM_181481,NM_001003674,NM_001003675,NM_001276249,NM_181483,NM_004338 LDLRAD4,LDLRAD4,LDLRAD4,LDLRAD4,LDLRAD4,LDLRAD4,LDLRAD4 EXON Missense_R99H,Missense_R99H,Missense_R62H,Missense_R62H,Missense_R22H,Missense_R41H,Missense_R41H exm1376866 18 13643392 [T/C] NM_181482,NM_181481,NM_001003674,NM_001003675,NM_001276249,NM_181483,NM_004338,NM_001276251 LDLRAD4,LDLRAD4,LDLRAD4,LDLRAD4,LDLRAD4,LDLRAD4,LDLRAD4,LDLRAD4 EXON Silent,Missense_P124L,Missense_P87L,Silent,Missense_P47L,Silent,Missense_P66L,Missense_P26L exm1376870 18 13645156 [T/C] NM_181482,NM_181481,NM_001003674,NM_001003675,NM_001276249,NM_181483,NM_004338,NM_001276251 LDLRAD4,LDLRAD4,LDLRAD4,LDLRAD4,LDLRAD4,LDLRAD4,LDLRAD4,LDLRAD4 EXON Missense_F123L,Missense_F141L,Missense_F104L,Missense_F86L,Missense_F64L,Missense_F65L,Missense_F83L,Missense_F43L exm1376882 18 13645558 [A/G] NM_181482,NM_181481,NM_001003674,NM_001003675,NM_001276249,NM_181483,NM_004338,NM_001276251 LDLRAD4,LDLRAD4,LDLRAD4,LDLRAD4,LDLRAD4,LDLRAD4,LDLRAD4,LDLRAD4 EXON Missense_A257T,Missense_A275T,Missense_A238T,Missense_A220T,Missense_A198T,Missense_A199T,Missense_A217T,Missense_A177T exm1376902 18 13671940 [A/G] NM_152352,NM_001098801 FAM210A,FAM210A EXON Missense_I169T,Missense_I169T exm1376903 18 13671964 [T/G] NM_152352,NM_001098801 FAM210A,FAM210A EXON Missense_N161T,Missense_N161T exm1376913 18 13681876 [T/G] NM_152352,NM_001098801 FAM210A,FAM210A EXON Missense_E67D,Missense_E67D exm1376915 18 13681901 [G/C] NM_152352,NM_001098801 FAM210A,FAM210A EXON Missense_S59C,Missense_S59C exm1376920 18 13681955 [A/G] NM_152352,NM_001098801 FAM210A,FAM210A EXON Missense_A41V,Missense_A41V exm1376921 18 13681962 [T/A] NM_152352,NM_001098801 FAM210A,FAM210A EXON Missense_Y39N,Missense_Y39N exm2274998 18 13682045 [T/C] NM_152352,NM_001098801 FAM210A,FAM210A EXON Missense_R11Q,Missense_R11Q exm1376929 18 13731520 [A/G] NM_003799 RNMT EXON Missense_A2T exm1376930 18 13731544 [T/C] NM_003799 RNMT EXON Missense_Y10H exm1909701 18 13731571 [A/G] NM_003799 RNMT EXON Missense_K19E exm1376931 18 13731574 [C/G] NM_003799 RNMT EXON Missense_A20P exm1376933 18 13731626 [T/C] NM_003799 RNMT EXON Missense_T37I exm1376934 18 13731634 [T/G] NM_003799 RNMT EXON Missense_G40W exm1376935 18 13731656 [G/C] NM_003799 RNMT EXON Missense_T47S exm1376941 18 13731835 [A/G] NM_003799 RNMT EXON Missense_R107G exm1909711 18 13740225 [T/C] NM_003799 RNMT EXON Missense_R247C exm1376952 18 13741519 [T/C] NM_003799 RNMT EXON Missense_I268T exm1376961 18 13752332 [T/C] NM_003799 RNMT EXON Missense_P422L exm1376962 18 13752358 [T/G] NM_003799 RNMT EXON Missense_S431A exm1376976 18 13825871 [T/C] NM_005913 MC5R EXON Missense_M36T exm1376990 18 13826119 [T/G] NM_005913 MC5R EXON Missense_D119Y exm1377011 18 13826391 [C/G] NM_005913 MC5R EXON Missense_F209L exm1377016 18 13826417 [A/G] NM_005913 MC5R EXON Missense_R218Q exm1377025 18 13826497 [A/G] NM_005913 MC5R EXON Missense_G245S exm1377039 18 13826645 [T/C] NM_005913 MC5R EXON Missense_I294T exm1377040 18 13826678 [T/C] NM_005913 MC5R EXON Missense_T305I exm1909742 18 13884637 [T/C] NM_000529 MC2R EXON Missense_S294N exm1377053 18 13884685 [A/C] NM_000529 MC2R EXON Missense_F278C exm2253345 18 13884723 [A/G] NM_000529 MC2R EXON Synonymous_I265I exm1377061 18 13884753 [T/C] NM_000529 MC2R EXON Missense_M255I exm1377067 18 13884907 [T/G] NM_000529 MC2R EXON Missense_T204N exm1377071 18 13885036 [C/G] NM_000529 MC2R EXON Missense_T161S exm1377091 18 13885217 [T/G] NM_000529 MC2R EXON Missense_T101P exm1377094 18 13885297 [A/C] NM_000529 MC2R EXON Missense_S74I exm1377096 18 13885385 [T/C] NM_000529 MC2R EXON Missense_V45I exm1377098 18 13885438 [G/C] NM_000529 MC2R EXON Missense_P27R exm2264659 18 13974987 [A/C] exm1377108 18 14104957 [A/G] NR_033354,NM_145287 ZNF519,ZNF519 EXON Silent,Missense_R528C exm1377136 18 14105436 [A/C] NR_033354,NM_145287 ZNF519,ZNF519 EXON Silent,Missense_R368I exm1377141 18 14105473 [G/C] NR_033354,NM_145287 ZNF519,ZNF519 EXON Silent,Missense_A356P exm1377152 18 14105844 [A/G] NR_033354,NM_145287 ZNF519,ZNF519 EXON Silent,Missense_I232T exm1377153 18 14105853 [A/C] NR_033354,NM_145287 ZNF519,ZNF519 EXON Silent,Missense_R229I exm1377159 18 14105923 [T/C] NR_033354,NM_145287 ZNF519,ZNF519 EXON Silent,Missense_K206E exm1377164 18 14106039 [T/C] NR_033354,NM_145287 ZNF519,ZNF519 EXON Silent,Missense_N167S exm1377166 18 14106113 [T/C] NR_033354,NM_145287 ZNF519,ZNF519 EXON Silent,Missense_M142I exm1377170 18 14106169 [A/G] NR_033354,NM_145287 ZNF519,ZNF519 EXON Silent,Missense_F124L exm1377171 18 14106187 [T/C] NR_033354,NM_145287 ZNF519,ZNF519 EXON Silent,Missense_D118N exm1377172 18 14106198 [A/G] NR_033354,NM_145287 ZNF519,ZNF519 EXON Silent,Missense_T114I exm1377176 18 14106274 [T/C] NR_033354,NM_145287 ZNF519,ZNF519 EXON Silent,Missense_G89S exm1377177 18 14106282 [T/G] NR_033354,NM_145287 ZNF519,ZNF519 EXON Silent,Missense_E86A exm1377181 18 14106385 [G/C] NR_033354,NM_145287 ZNF519,ZNF519 EXON Silent,Missense_G52R exm1377187 18 14124393 [T/C] NR_033354,NM_145287 ZNF519,ZNF519 EXON Silent,Missense_Y29C exm1377281 18 14543057 [T/G] NM_001137671 POTEC EXON Missense_H30P exm2268134 18 14660464 [A/G] exm2253348 18 14752957 [A/G] NM_001145029 ANKRD30B EXON Synonymous_L152L exm1377296 18 14752957 [A/G] NM_001145029 ANKRD30B EXON Synonymous_L152L exm1377298 18 14752986 [A/G] NM_001145029 ANKRD30B EXON Missense_G162D exm1377301 18 14754964 [A/G] NM_001145029 ANKRD30B EXON Missense_T193A exm1377315 18 14779969 [C/G] NM_001145029 ANKRD30B EXON Missense_F477L exm1377351 18 14837246 [T/C] NM_001145029 ANKRD30B EXON Missense_R843C exm2260735 18 18520354 [T/G] exm1377398 18 18534744 [T/C] NM_005406 ROCK1 EXON Missense_V1285I exm2227666 18 18539806 [T/G] NM_005406 ROCK1 EXON Missense_D1169E exm1377410 18 18546896 [T/G] NM_005406 ROCK1 EXON Missense_T1112P exm1377424 18 18550415 [A/G] NM_005406 ROCK1 EXON Missense_A905V exm1377435 18 18564483 [G/C] NM_005406 ROCK1 EXON Missense_T773S exm1377442 18 18571171 [A/T] NM_005406 ROCK1 EXON Missense_Q703H exm2253353 18 18595437 [A/G] NM_005406 ROCK1 EXON Synonymous_T455T exm1377471 18 18619444 [A/G] NM_005406 ROCK1 EXON Missense_T347M exm1377491 18 18964212 [T/G] NM_001142966 GREB1L EXON Missense_R68L exm1377493 18 18964286 [A/G] NM_001142966 GREB1L EXON Missense_E93K exm1377508 18 19024365 [A/G] NM_001142966 GREB1L EXON Missense_R463Q exm1377515 18 19034332 [A/G] NM_001142966 GREB1L EXON Missense_D664N exm1377533 18 19076596 [A/G] NM_001142966 GREB1L EXON Missense_D1110N exm1377543 18 19080209 [T/C] NM_001142966 GREB1L EXON Missense_P1304L exm2253354 18 19093933 [T/G] NM_001142966 GREB1L EXON Synonymous_V1629V exm1377565 18 19100763 [A/C] NM_001142966 GREB1L EXON Missense_K1863Q exm1377610 18 19153303 [A/T] NM_052911 ESCO1 EXON Missense_K501I exm1377617 18 19153475 [A/G] NM_052911 ESCO1 EXON Missense_H444Y exm1377630 18 19153795 [A/G] NM_052911 ESCO1 EXON Missense_T337I exm1377632 18 19153832 [A/G] NM_052911 ESCO1 EXON Missense_S325P exm1377633 18 19153835 [T/C] NM_052911 ESCO1 EXON Missense_E324K exm1377637 18 19153978 [A/G] NM_052911 ESCO1 EXON Missense_L276P exm1377638 18 19153979 [G/C] NM_052911 ESCO1 EXON Missense_L276V exm1377645 18 19154143 [A/G] NM_052911 ESCO1 EXON Missense_T221M exm1377649 18 19154233 [T/C] NM_052911 ESCO1 EXON Missense_N191S exm1377655 18 19154339 [T/C] NM_052911 ESCO1 EXON Missense_K156E exm1909931 18 19154749 [G/C] NM_052911 ESCO1 EXON Missense_S19T exm2274999 18 19154752 [T/C] NM_052911 ESCO1 EXON Missense_K18R exm1377687 18 19231613 [A/G] NM_138340 ABHD3 EXON Missense_M390T exm1377689 18 19231655 [A/G] NM_138340 ABHD3 EXON Missense_I376T exm1377693 18 19236923 [T/C] NM_138340 ABHD3 EXON Missense_D319G exm1377697 18 19237108 [T/C] NM_138340 ABHD3 EXON Missense_R283Q exm1377704 18 19239275 [A/G] NM_138340 ABHD3 EXON Missense_I233T exm1377720 18 19282394 [A/G] NM_138340 ABHD3 EXON Missense_T131M exm1377723 18 19283564 [A/G] NM_138340 ABHD3 EXON Missense_P103S exm1377736 18 19284592 [T/G] NM_138340 ABHD3 EXON Missense_S12Y exm1377738 18 19284620 [A/G] NM_138340 ABHD3 EXON Missense_R3C exm1377752 18 19345879 [T/C] NM_020774 MIB1 EXON Nonsense_R126X exm1377755 18 19348657 [T/C] NM_020774 MIB1 EXON Nonsense_R159X exm1377778 18 19378049 [T/C] NM_020774 MIB1 EXON Missense_L366S exm1377779 18 19378063 [T/C] NM_020774 MIB1 EXON Nonsense_R371X exm1377782 18 19378178 [A/G] NM_020774 MIB1 EXON Missense_N409S exm1377795 18 19383931 [A/G] NM_020774 MIB1 EXON Missense_I479V exm1377803 18 19395685 [T/C] NM_020774 MIB1 EXON Nonsense_R530X exm1909995 18 19423155 [T/C] NM_020774 MIB1 EXON Nonsense_R676X exm1377829 18 19429168 [A/G] NM_020774 MIB1 EXON Missense_G802D exm1377843 18 19437141 [T/C] NM_020774 MIB1 EXON Nonsense_R906X exm1377844 18 19437171 [A/G] NM_020774 MIB1 EXON Missense_G916R exm1377854 18 19444613 [A/G] NM_020774 MIB1 EXON Missense_I1003V exm-rs1871510 18 19589336 [T/C] exm1377891 18 19761486 [A/G] NM_005257 GATA6 EXON Missense_A459T exm2272719 18 19765739 [T/C] NM_005257 GATA6 Silent exm1377901 18 19780661 [C/G] NM_005257 GATA6 EXON Missense_P555A exm1377904 18 19780721 [C/G] NM_005257 GATA6 EXON Missense_A575P exm2253356 18 19826742 [A/G] exm2253357 18 19938098 [T/C] exm1377923 18 19995719 [T/G] NM_172241 CTAGE1 EXON Missense_P686T exm1377925 18 19995731 [T/C] NM_172241 CTAGE1 EXON Missense_I682V exm1377930 18 19995773 [T/C] NM_172241 CTAGE1 EXON Missense_I668V exm1377931 18 19995775 [A/G] NM_172241 CTAGE1 EXON Missense_P667L exm1910047 18 19996207 [T/C] NM_172241 CTAGE1 EXON Missense_G523E exm1377958 18 19996474 [A/G] NM_172241 CTAGE1 EXON Missense_S434L exm1377961 18 19996534 [A/G] NM_172241 CTAGE1 EXON Missense_T414I exm1377979 18 19996984 [T/C] NM_172241 CTAGE1 EXON Missense_E264G exm2227677 18 19997246 [T/C] NM_172241 CTAGE1 EXON Missense_E177K exm1378000 18 19997762 [A/G] NM_172241 CTAGE1 EXON Missense_S5P exm-rs4331426 18 20190795 [A/G] exm-rs11661542 18 20223695 [A/C] exm2272720 18 20494552 [T/C] exm1378019 18 20548849 [A/G] NM_002894,NM_203291,NM_203292 RBBP8,RBBP8,RBBP8 EXON Missense_R110Q,Missense_R110Q,Missense_R110Q exm1378036 18 20570963 [A/G] NM_002894,NM_203291,NM_203292 RBBP8,RBBP8,RBBP8 EXON Missense_K291E,Missense_K291E,Missense_K291E exm1378046 18 20572853 [A/G] NM_002894,NM_203291,NM_203292 RBBP8,RBBP8,RBBP8 EXON Missense_K355E,Missense_K355E,Missense_K355E exm1378047 18 20572861 [A/C] NM_002894,NM_203291,NM_203292 RBBP8,RBBP8,RBBP8 EXON Missense_K357N,Missense_K357N,Missense_K357N exm1378056 18 20573157 [A/G] NM_002894,NM_203291,NM_203292 RBBP8,RBBP8,RBBP8 EXON Missense_H456R,Missense_H456R,Missense_H456R exm1378059 18 20573213 [A/G] NM_002894,NM_203291,NM_203292 RBBP8,RBBP8,RBBP8 EXON Missense_M475V,Missense_M475V,Missense_M475V exm1378062 18 20573243 [T/C] NM_002894,NM_203291,NM_203292 RBBP8,RBBP8,RBBP8 EXON Missense_C485R,Missense_C485R,Missense_C485R exm1378065 18 20573295 [A/G] NM_002894,NM_203291,NM_203292 RBBP8,RBBP8,RBBP8 EXON Missense_R502H,Missense_R502H,Missense_R502H exm1378076 18 20573556 [A/G] NM_002894,NM_203291,NM_203292 RBBP8,RBBP8,RBBP8 EXON Missense_R589H,Missense_R589H,Missense_R589H exm1378087 18 20581551 [A/G] NM_002894,NM_203291,NM_203292 RBBP8,RBBP8,RBBP8 EXON Missense_E716K,Missense_E716K,Missense_E716K exm1378096 18 20602153 [A/G] NM_002894,NM_203291,NM_203292 RBBP8,RBBP8,RBBP8 EXON Missense_R839Q,Missense_R839Q,Missense_D807N exm1378103 18 20606122 [T/G] NM_002894,NM_203291,NM_203292 RBBP8,RBBP8,RBBP8 EXON Missense_D871E,Missense_D871E,Missense_I839S exm1378105 18 20606167 [A/G] NM_002894,NM_203291,NM_203292 RBBP8,RBBP8,RBBP8 EXON Synonymous_A886A,Synonymous_A886A,Missense_Q854R exm2268080 18 20646281 [A/G] exm-rs8098316 18 20672555 [T/G] exm1378127 18 20716414 [T/C] NM_001256438,NR_023359,NM_001100619 CABLES1,CABLES1,CABLES1 EXON Silent,Silent,Missense_P230S exm1378128 18 20716444 [T/C] NM_001256438,NR_023359,NM_001100619 CABLES1,CABLES1,CABLES1 EXON Silent,Silent,Missense_L240F exm-rs11082304 18 20720973 [T/G] NM_001256438,NR_023359,NM_001100619 CABLES1,CABLES1,CABLES1 Silent,Silent,Silent exm-rs4800148 18 20724328 [A/G] NM_001256438,NR_023359,NM_001100619 CABLES1,CABLES1,CABLES1 Silent,Silent,Silent exm-rs4800452 18 20727611 [T/C] NM_001256438,NR_023359,NM_001100619 CABLES1,CABLES1,CABLES1 Silent,Silent,Silent exm-rs4369779 18 20735408 [T/C] NM_001256438,NR_023359,NM_001100619 CABLES1,CABLES1,CABLES1 Silent,Silent,Silent exm1378139 18 20768822 [A/G] NM_001256438,NR_023359,NM_001100619,NM_138375 CABLES1,CABLES1,CABLES1,CABLES1 EXON Silent,Silent,Missense_R289K,Missense_R24K exm1378141 18 20768870 [A/G] NM_001256438,NR_023359,NM_001100619,NM_138375 CABLES1,CABLES1,CABLES1,CABLES1 EXON Silent,Silent,Missense_R305Q,Missense_R40Q exm1378167 18 20833694 [G/C] NM_001256438,NR_023359,NM_001100619,NM_138375 CABLES1,CABLES1,CABLES1,CABLES1 EXON Missense_L192V,Silent,Missense_L519V,Missense_L254V exm1378168 18 20833710 [A/G] NM_001256438,NR_023359,NM_001100619,NM_138375 CABLES1,CABLES1,CABLES1,CABLES1 EXON Missense_R197Q,Silent,Missense_R524Q,Missense_R259Q exm1378170 18 20833757 [A/G] NM_001256438,NR_023359,NM_001100619,NM_138375 CABLES1,CABLES1,CABLES1,CABLES1 EXON Missense_M213V,Silent,Missense_M540V,Missense_M275V exm1378172 18 20833766 [A/G] NM_001256438,NR_023359,NM_001100619,NM_138375 CABLES1,CABLES1,CABLES1,CABLES1 EXON Missense_V216I,Silent,Missense_V543I,Missense_V278I exm1378195 18 20889671 [A/G] NM_032933 TMEM241 EXON Missense_A268V exm1378199 18 20936558 [T/C] NM_032933 TMEM241 EXON Missense_S224N exm1378200 18 20936576 [T/C] NM_032933 TMEM241 EXON Missense_H218R exm1378201 18 20936613 [T/C] NM_032933 TMEM241 EXON Missense_V206I exm1378205 18 20945616 [A/G] NM_032933 TMEM241 EXON Missense_F195L exm1378213 18 20953686 [T/C] NM_032933 TMEM241 EXON Missense_N142S exm1378214 18 20953720 [A/G] NM_032933 TMEM241 EXON Missense_L131F exm1378230 18 21001400 [A/G] NM_032933 TMEM241 EXON Missense_T43M exm1378231 18 21001401 [T/C] NM_032933 TMEM241 EXON Missense_T43A exm1378235 18 21017770 [T/C] NM_032933 TMEM241 EXON Missense_Y16C exm1378237 18 21017792 [T/C] NM_032933 TMEM241 EXON Missense_G9S exm1378241 18 21033461 [A/C] NM_003831 RIOK3 EXON Missense_S20R exm1378247 18 21043019 [A/C] NM_003831 RIOK3 EXON Missense_E52A exm1378249 18 21043043 [T/C] NM_003831 RIOK3 EXON Missense_A60V exm1378252 18 21044076 [A/G] NM_003831 RIOK3 EXON Missense_V109I exm1378256 18 21044246 [A/G] NM_003831 RIOK3 EXON Nonsense_W134X exm1378258 18 21044256 [C/G] NM_003831 RIOK3 EXON Missense_R138G exm1378262 18 21044534 [T/C] NM_003831 RIOK3 EXON Missense_I162T exm1378277 18 21055066 [G/C] NM_003831 RIOK3 EXON Missense_L390V exm1378286 18 21057186 [T/C] NM_003831 RIOK3 EXON Missense_P433L exm1378288 18 21057209 [T/C] NM_003831 RIOK3 EXON Missense_R441W exm1378289 18 21057210 [A/G] NM_003831 RIOK3 EXON Missense_R441Q exm1378290 18 21057228 [T/C] NM_003831 RIOK3 EXON Missense_S447L exm1378293 18 21059321 [A/G] NM_003831 RIOK3 EXON Missense_R462Q exm1378303 18 21083647 [A/C] NR_075076,NR_075075,NM_013326,NM_001276342 C18orf8,C18orf8,C18orf8,C18orf8 EXON Silent,Silent,Missense_P22H,Missense_P22H exm1378312 18 21089164 [A/C] NR_075076,NR_075075,NM_013326,NM_001276342 C18orf8,C18orf8,C18orf8,C18orf8 EXON Silent,Silent,Missense_N110T,Silent exm1378320 18 21095953 [A/G] NR_075076,NR_075075,NM_013326,NM_001276342 C18orf8,C18orf8,C18orf8,C18orf8 EXON Silent,Silent,Missense_H181R,Missense_H133R exm1378325 18 21096306 [T/C] NR_075076,NR_075075,NM_013326,NM_001276342 C18orf8,C18orf8,C18orf8,C18orf8 EXON Silent,Silent,Missense_P191L,Missense_P143L exm1378327 18 21096330 [G/C] NR_075076,NR_075075,NM_013326,NM_001276342 C18orf8,C18orf8,C18orf8,C18orf8 EXON Silent,Silent,Missense_A199G,Missense_A151G exm1378331 18 21096377 [A/G] NR_075076,NR_075075,NM_013326,NM_001276342 C18orf8,C18orf8,C18orf8,C18orf8 EXON Silent,Silent,Missense_M215V,Missense_M167V exm1378332 18 21098889 [A/G] NR_075076,NR_075075,NM_013326,NM_001276342 C18orf8,C18orf8,C18orf8,C18orf8 EXON Silent,Silent,Missense_H230R,Missense_H182R exm1378346 18 21100245 [A/G] NR_075076,NR_075075,NM_013326,NM_001276342 C18orf8,C18orf8,C18orf8,C18orf8 EXON Silent,Silent,Missense_R310Q,Missense_R262Q exm1378357 18 21104425 [A/G] NR_075076,NR_075075,NM_013326,NM_001276342 C18orf8,C18orf8,C18orf8,C18orf8 EXON Silent,Silent,Missense_I347V,Missense_I299V exm1378367 18 21107861 [T/C] NR_075076,NR_075075,NM_013326,NM_001276342 C18orf8,C18orf8,C18orf8,C18orf8 EXON Silent,Silent,Missense_A431V,Missense_A383V exm1378378 18 21110073 [A/G] NR_075076,NR_075075,NM_013326,NM_001276342 C18orf8,C18orf8,C18orf8,C18orf8 EXON Silent,Silent,Missense_V526I,Missense_V478I exm1378389 18 21111649 [T/G] NR_075076,NR_075075,NM_013326,NM_001276342,NM_000271 C18orf8,C18orf8,C18orf8,C18orf8,NPC1 EXON Silent,Silent,Missense_M652R,Silent,Silent exm1378392 18 21112182 [T/C] NM_000271 NPC1 EXON Missense_R1274Q exm1378394 18 21112206 [T/C] NM_000271 NPC1 EXON Missense_R1266Q exm1378402 18 21113475 [T/C] NM_000271 NPC1 EXON Missense_S1200G exm1378403 18 21114410 [A/G] NM_000271 NPC1 EXON Synonymous_S1197S exm1378410 18 21114453 [T/C] NM_000271 NPC1 EXON Missense_R1183H exm1378412 18 21114466 [T/C] NM_000271 NPC1 EXON Missense_M1179V exm1378423 18 21115567 [A/C] NM_000271 NPC1 EXON Missense_V1115F exm1378426 18 21116665 [T/C] NM_000271 NPC1 EXON Missense_G1073S exm1378429 18 21116700 [A/G] NM_000271 NPC1 EXON Missense_I1061T exm1378433 18 21118528 [G/C] NM_000271 NPC1 EXON Missense_P1007A exm1378441 18 21119348 [T/C] NM_000271 NPC1 EXON Missense_N961S exm1378449 18 21119839 [T/C] NM_000271 NPC1 EXON Missense_G911S exm1378455 18 21120444 [T/C] NM_000271 NPC1 EXON Missense_I858V exm1378465 18 21121118 [A/C] NM_000271 NPC1 EXON Missense_V810F exm1378469 18 21121284 [T/C] NM_000271 NPC1 EXON Missense_I787V exm1378494 18 21124934 [T/C] NM_000271 NPC1 EXON Missense_R646H exm1378496 18 21124945 [C/G] NM_000271 NPC1 EXON Missense_M642I exm1378499 18 21125001 [T/C] NM_000271 NPC1 EXON Missense_V624I exm1378500 18 21125105 [T/C] NM_000271 NPC1 EXON Missense_N589S exm1378508 18 21131684 [A/C] NM_000271 NPC1 EXON Missense_A521S exm1378511 18 21134743 [A/G] NM_000271 NPC1 EXON Missense_T511M exm1378512 18 21134769 [C/G] NM_000271 NPC1 EXON Missense_D502E exm1378515 18 21134795 [T/C] NM_000271 NPC1 EXON Missense_V494M exm1378528 18 21136233 [A/G] NM_000271 NPC1 EXON Missense_P434S exm1378532 18 21136301 [T/C] NM_000271 NPC1 EXON Missense_R411Q exm1378540 18 21136478 [A/C] NM_000271 NPC1 EXON Missense_C352F exm1378554 18 21140203 [A/C] NM_000271 NPC1 EXON Missense_W291C exm1378563 18 21140367 [A/G] NM_000271 NPC1 EXON Missense_P237S exm1378565 18 21140411 [T/C] NM_000271 NPC1 EXON Missense_N222S exm1378566 18 21140432 [T/C] NM_000271 NPC1 EXON Missense_H215R exm1378570 18 21141392 [T/C] NM_000271 NPC1 EXON Missense_N188S exm1378571 18 21141402 [T/C] NM_000271 NPC1 EXON Missense_N185D exm1378572 18 21141408 [T/C] NM_000271 NPC1 EXON Missense_A183T exm2253359 18 21141415 [A/G] NM_000271 NPC1 EXON Synonymous_D180D exm1378574 18 21141474 [A/G] NM_000271 NPC1 EXON Missense_R161W exm1378576 18 21141488 [A/G] NM_000271 NPC1 EXON Missense_M156T exm1378577 18 21141489 [T/C] NM_000271 NPC1 EXON Missense_M156V exm1910328 18 21152116 [T/C] NM_000271 NPC1 EXON Missense_N70S exm1378590 18 21153416 [A/C] NM_000271 NPC1 EXON Missense_Q60H exm1378603 18 21181236 [T/C] NM_173505 ANKRD29 EXON Missense_R287H exm1378611 18 21197733 [T/C] NM_173505 ANKRD29 EXON Missense_E229G exm1378614 18 21197776 [A/T] NM_173505 ANKRD29 EXON Missense_L215I exm1378616 18 21199513 [G/C] NM_173505 ANKRD29 EXON Missense_D203E exm1378628 18 21218838 [C/G] NM_173505 ANKRD29 EXON Missense_G102A exm1378642 18 21229073 [A/G] NM_173505 ANKRD29 EXON Missense_R36W exm1378646 18 21229102 [A/G] NM_173505 ANKRD29 EXON Missense_A26V exm1378672 18 21294020 [C/G] NM_198129,NM_001127717 LAMA3,LAMA3 EXON Missense_T144S,Missense_T144S exm1378678 18 21329424 [T/C] NM_198129,NM_001127717 LAMA3,LAMA3 EXON Missense_R200W,Missense_R200W exm1378679 18 21329425 [A/G] NM_198129,NM_001127717 LAMA3,LAMA3 EXON Missense_R200Q,Missense_R200Q exm2227689 18 21338424 [A/G] NM_198129,NM_001127717 LAMA3,LAMA3 EXON Missense_N338D,Missense_N338D exm1910358 18 21343416 [T/G] NM_198129,NM_001127717 LAMA3,LAMA3 EXON Missense_V371F,Missense_V371F exm1378704 18 21353474 [G/C] NM_198129,NM_001127717 LAMA3,LAMA3 EXON Missense_G399A,Missense_G399A exm1378707 18 21353551 [T/C] NM_198129,NM_001127717 LAMA3,LAMA3 EXON Missense_P425S,Missense_P425S exm1378712 18 21355857 [A/G] NM_198129,NM_001127717 LAMA3,LAMA3 EXON Missense_I459V,Missense_I459V exm1378719 18 21364082 [A/C] NM_198129,NM_001127717 LAMA3,LAMA3 EXON Missense_T522P,Missense_T522P exm1378720 18 21364089 [A/G] NM_198129,NM_001127717 LAMA3,LAMA3 EXON Missense_R524H,Missense_R524H exm1378728 18 21394409 [A/C] NM_198129,NM_001127717 LAMA3,LAMA3 EXON Missense_S611R,Missense_S611R exm1378729 18 21394422 [T/G] NM_198129,NM_001127717 LAMA3,LAMA3 EXON Missense_L615R,Missense_L615R exm1378731 18 21395164 [A/G] NM_198129,NM_001127717 LAMA3,LAMA3 EXON Missense_H634R,Missense_H634R exm1378736 18 21395463 [T/G] NM_198129,NM_001127717 LAMA3,LAMA3 EXON Missense_V658G,Missense_V658G exm1378742 18 21399863 [A/G] NM_198129,NM_001127717 LAMA3,LAMA3 EXON Missense_G736S,Missense_G736S exm1378743 18 21399891 [A/G] NM_198129,NM_001127717 LAMA3,LAMA3 EXON Missense_R745Q,Missense_R745Q exm1378749 18 21402285 [A/G] NM_198129,NM_001127717 LAMA3,LAMA3 EXON Missense_V792I,Missense_V792I exm1378750 18 21402298 [A/C] NM_198129,NM_001127717 LAMA3,LAMA3 EXON Missense_T796N,Missense_T796N exm1378754 18 21404401 [A/G] NM_198129,NM_001127717 LAMA3,LAMA3 EXON Missense_K815E,Missense_K815E exm1378760 18 21406679 [T/C] NM_198129,NM_001127717 LAMA3,LAMA3 EXON Missense_L862P,Missense_L862P exm1378764 18 21407372 [A/G] NM_198129,NM_001127717 LAMA3,LAMA3 EXON Missense_V922M,Missense_V922M exm1378766 18 21407388 [T/C] NM_198129,NM_001127717 LAMA3,LAMA3 EXON Missense_P927L,Missense_P927L exm1378769 18 21407417 [T/C] NM_198129,NM_001127717 LAMA3,LAMA3 EXON Missense_L937F,Missense_L937F exm1378774 18 21413837 [A/G] NM_198129,NM_001127717 LAMA3,LAMA3 EXON Missense_V957M,Missense_V957M exm1378786 18 21416956 [A/G] NM_198129,NM_001127717 LAMA3,LAMA3 EXON Missense_R999Q,Missense_R999Q exm1378791 18 21417043 [A/G] NM_198129,NM_001127717 LAMA3,LAMA3 EXON Missense_R1028Q,Missense_R1028Q exm1378811 18 21422441 [T/C] NM_198129,NM_001127717 LAMA3,LAMA3 EXON Missense_T1140M,Missense_T1140M exm1378820 18 21424973 [T/G] NM_198129,NM_001127717 LAMA3,LAMA3 EXON Missense_V1202F,Missense_V1202F exm1378823 18 21424986 [T/C] NM_198129,NM_001127717 LAMA3,LAMA3 EXON Missense_V1206A,Missense_V1206A exm1378824 18 21424991 [A/C] NM_198129,NM_001127717 LAMA3,LAMA3 EXON Missense_P1208T,Missense_P1208T exm1378825 18 21425048 [A/G] NM_198129,NM_001127717 LAMA3,LAMA3 EXON Missense_E1227K,Missense_E1227K exm1378837 18 21427428 [T/C] NM_198129,NM_001127717 LAMA3,LAMA3 EXON Missense_P1311L,Missense_P1311L exm1378844 18 21427550 [T/G] NM_198129,NM_001127717 LAMA3,LAMA3 EXON Missense_G1352C,Missense_G1352C exm1378845 18 21427556 [A/G] NM_198129,NM_001127717 LAMA3,LAMA3 EXON Missense_E1354K,Missense_E1354K exm1378848 18 21427610 [T/G] NM_198129,NM_001127717 LAMA3,LAMA3 EXON Missense_D1372Y,Missense_D1372Y exm1378849 18 21427613 [T/C] NM_198129,NM_001127717 LAMA3,LAMA3 EXON Missense_R1373W,Missense_R1373W exm1378852 18 21437831 [A/G] NM_198129,NM_001127717 LAMA3,LAMA3 EXON Missense_R1387Q,Missense_R1387Q exm1378853 18 21437834 [T/A] NM_198129,NM_001127717 LAMA3,LAMA3 EXON Missense_Q1388L,Missense_Q1388L exm1378854 18 21437843 [A/G] NM_198129,NM_001127717 LAMA3,LAMA3 EXON Missense_R1391Q,Missense_R1391Q exm1378856 18 21437897 [T/G] NM_198129,NM_001127717 LAMA3,LAMA3 EXON Missense_R1409I,Missense_R1409I exm1378857 18 21437917 [A/G] NM_198129,NM_001127717 LAMA3,LAMA3 EXON Missense_V1416M,Missense_V1416M exm1378867 18 21438762 [A/G] NM_198129,NM_001127717 LAMA3,LAMA3 EXON Missense_Q1464R,Missense_Q1464R exm1378875 18 21441731 [A/G] NM_198129,NM_001127717 LAMA3,LAMA3 EXON Missense_S1515N,Missense_S1515N exm1378880 18 21441755 [T/C] NM_198129,NM_001127717 LAMA3,LAMA3 EXON Missense_S1523F,Missense_S1523F exm1378887 18 21444807 [A/G] NM_198129,NM_001127717 LAMA3,LAMA3 EXON Missense_D1548G,Missense_D1548G exm1378900 18 21451576 [T/C] NM_198129,NM_001127717 LAMA3,LAMA3 EXON Missense_A1650V,Missense_A1650V exm1378909 18 21453084 [A/C] NM_198129,NM_001127717,NM_001127718,NM_000227 LAMA3,LAMA3,LAMA3,LAMA3 EXON Silent,Silent,Missense_L26M,Missense_L26M exm1378911 18 21453118 [T/G] NM_198129,NM_001127717,NM_001127718,NM_000227 LAMA3,LAMA3,LAMA3,LAMA3 EXON Silent,Silent,Missense_F37C,Missense_F37C exm1378914 18 21456271 [T/G] NM_198129,NM_001127717,NM_001127718,NM_000227 LAMA3,LAMA3,LAMA3,LAMA3 EXON Missense_G1671V,Missense_G1671V,Missense_G62V,Missense_G62V exm1378916 18 21456303 [A/G] NM_198129,NM_001127717,NM_001127718,NM_000227 LAMA3,LAMA3,LAMA3,LAMA3 EXON Missense_G1682R,Missense_G1682R,Missense_G73R,Missense_G73R exm1378917 18 21456306 [T/C] NM_198129,NM_001127717,NM_001127718,NM_000227 LAMA3,LAMA3,LAMA3,LAMA3 EXON Missense_R1683W,Missense_R1683W,Missense_R74W,Missense_R74W exm1378920 18 21461907 [A/G] NM_198129,NM_001127717,NM_001127718,NM_000227 LAMA3,LAMA3,LAMA3,LAMA3 EXON Missense_Q1707R,Missense_Q1707R,Missense_Q98R,Missense_Q98R exm1378949 18 21474931 [A/G] NM_198129,NM_001127717,NM_001127718,NM_000227 LAMA3,LAMA3,LAMA3,LAMA3 EXON Missense_R1841H,Missense_R1841H,Missense_R232H,Missense_R232H exm1378956 18 21478973 [T/C] NM_198129,NM_001127717,NM_001127718,NM_000227 LAMA3,LAMA3,LAMA3,LAMA3 EXON Missense_T1927I,Missense_T1927I,Missense_T318I,Missense_T318I exm1378960 18 21479028 [T/C] NM_198129,NM_001127717,NM_001127718,NM_000227 LAMA3,LAMA3,LAMA3,LAMA3 EXON Synonymous_H1945H,Synonymous_H1945H,Synonymous_H336H,Synonymous_H336H exm1910455 18 21479338 [T/C] NM_198129,NM_001127717,NM_001127718,NM_000227 LAMA3,LAMA3,LAMA3,LAMA3 EXON Missense_R1975C,Silent,Silent,Missense_R366C exm1378965 18 21479339 [A/G] NM_198129,NM_001127717,NM_001127718,NM_000227 LAMA3,LAMA3,LAMA3,LAMA3 EXON Missense_R1975H,Silent,Silent,Missense_R366H exm1378966 18 21479356 [T/C] NM_198129,NM_001127717,NM_001127718,NM_000227 LAMA3,LAMA3,LAMA3,LAMA3 EXON Missense_R1981W,Silent,Silent,Missense_R372W exm1378967 18 21479357 [A/G] NM_198129,NM_001127717,NM_001127718,NM_000227 LAMA3,LAMA3,LAMA3,LAMA3 EXON Missense_R1981Q,Silent,Silent,Missense_R372Q exm1378973 18 21481208 [A/G] NM_198129,NM_001127717,NM_001127718,NM_000227 LAMA3,LAMA3,LAMA3,LAMA3 EXON Missense_R2041Q,Missense_R1985Q,Missense_R376Q,Missense_R432Q exm1378983 18 21483057 [A/G] NM_198129,NM_001127717,NM_001127718,NM_000227 LAMA3,LAMA3,LAMA3,LAMA3 EXON Missense_I2096V,Missense_I2040V,Missense_I431V,Missense_I487V exm1378987 18 21483967 [T/C] NM_198129,NM_001127717,NM_001127718,NM_000227 LAMA3,LAMA3,LAMA3,LAMA3 EXON Missense_S2130F,Missense_S2074F,Missense_S465F,Missense_S521F exm1378988 18 21483972 [T/G] NM_198129,NM_001127717,NM_001127718,NM_000227 LAMA3,LAMA3,LAMA3,LAMA3 EXON Missense_S2132A,Missense_S2076A,Missense_S467A,Missense_S523A exm1378989 18 21484014 [A/G] NM_198129,NM_001127717,NM_001127718,NM_000227 LAMA3,LAMA3,LAMA3,LAMA3 EXON Missense_A2146T,Missense_A2090T,Missense_A481T,Missense_A537T exm1378991 18 21484017 [T/C] NM_198129,NM_001127717,NM_001127718,NM_000227 LAMA3,LAMA3,LAMA3,LAMA3 EXON Missense_R2147W,Missense_R2091W,Missense_R482W,Missense_R538W exm1910467 18 21484552 [A/G] NM_198129,NM_001127717,NM_001127718,NM_000227 LAMA3,LAMA3,LAMA3,LAMA3 EXON Missense_R2170H,Missense_R2114H,Missense_R505H,Missense_R561H exm1378999 18 21484606 [T/C] NM_198129,NM_001127717,NM_001127718,NM_000227 LAMA3,LAMA3,LAMA3,LAMA3 EXON Missense_A2188V,Missense_A2132V,Missense_A523V,Missense_A579V exm1379005 18 21487600 [C/G] NM_198129,NM_001127717,NM_001127718,NM_000227 LAMA3,LAMA3,LAMA3,LAMA3 EXON Missense_L2269V,Missense_L2213V,Missense_L604V,Missense_L660V exm1379022 18 21492826 [T/C] NM_198129,NM_001127717,NM_001127718,NM_000227 LAMA3,LAMA3,LAMA3,LAMA3 EXON Missense_M2437T,Missense_M2381T,Missense_M772T,Missense_M828T exm1379027 18 21494509 [T/C] NM_198129,NM_001127717,NM_001127718,NM_000227 LAMA3,LAMA3,LAMA3,LAMA3 EXON Missense_R2489W,Missense_R2433W,Missense_R824W,Missense_R880W exm1379028 18 21494685 [A/G] NM_198129,NM_001127717,NM_001127718,NM_000227 LAMA3,LAMA3,LAMA3,LAMA3 EXON Missense_N2502S,Missense_N2446S,Missense_N837S,Missense_N893S exm1379031 18 21494726 [A/G] NM_198129,NM_001127717,NM_001127718,NM_000227 LAMA3,LAMA3,LAMA3,LAMA3 EXON Missense_G2516R,Missense_G2460R,Missense_G851R,Missense_G907R exm1379032 18 21494741 [A/G] NM_198129,NM_001127717,NM_001127718,NM_000227 LAMA3,LAMA3,LAMA3,LAMA3 EXON Missense_D2521N,Missense_D2465N,Missense_D856N,Missense_D912N exm1379042 18 21495347 [A/C] NM_198129,NM_001127717,NM_001127718,NM_000227 LAMA3,LAMA3,LAMA3,LAMA3 EXON Missense_T2580K,Missense_T2524K,Missense_T915K,Missense_T971K exm1379052 18 21496652 [A/G] NM_198129,NM_001127717,NM_001127718,NM_000227 LAMA3,LAMA3,LAMA3,LAMA3 EXON Missense_E2639G,Missense_E2583G,Missense_E974G,Missense_E1030G exm1379055 18 21500941 [A/G] NM_198129,NM_001127717,NM_001127718,NM_000227 LAMA3,LAMA3,LAMA3,LAMA3 EXON Missense_V2656M,Missense_V2600M,Missense_V991M,Missense_V1047M exm1379058 18 21501441 [A/G] NM_198129,NM_001127717,NM_001127718,NM_000227 LAMA3,LAMA3,LAMA3,LAMA3 EXON Missense_Q2690R,Missense_Q2634R,Missense_Q1025R,Missense_Q1081R exm1379059 18 21501447 [A/G] NM_198129,NM_001127717,NM_001127718,NM_000227 LAMA3,LAMA3,LAMA3,LAMA3 EXON Missense_R2692H,Missense_R2636H,Missense_R1027H,Missense_R1083H exm1379061 18 21501476 [A/G] NM_198129,NM_001127717,NM_001127718,NM_000227 LAMA3,LAMA3,LAMA3,LAMA3 EXON Missense_T2702A,Missense_T2646A,Missense_T1037A,Missense_T1093A exm1379063 18 21501485 [C/G] NM_198129,NM_001127717,NM_001127718,NM_000227 LAMA3,LAMA3,LAMA3,LAMA3 EXON Missense_D2705H,Missense_D2649H,Missense_D1040H,Missense_D1096H exm1379068 18 21508151 [A/G] NM_198129,NM_001127717,NM_001127718,NM_000227 LAMA3,LAMA3,LAMA3,LAMA3 EXON Missense_V2748I,Missense_V2692I,Missense_V1083I,Missense_V1139I exm1379070 18 21508191 [T/C] NM_198129,NM_001127717,NM_001127718,NM_000227 LAMA3,LAMA3,LAMA3,LAMA3 EXON Missense_S2761L,Missense_S2705L,Missense_S1096L,Missense_S1152L exm1379072 18 21511034 [A/C] NM_198129,NM_001127717,NM_001127718,NM_000227 LAMA3,LAMA3,LAMA3,LAMA3 EXON Missense_N2815K,Missense_N2759K,Missense_N1150K,Missense_N1206K exm1379078 18 21511089 [A/G] NM_198129,NM_001127717,NM_001127718,NM_000227 LAMA3,LAMA3,LAMA3,LAMA3 EXON Missense_S2834G,Missense_S2778G,Missense_S1169G,Missense_S1225G exm1379083 18 21512124 [T/A] NM_198129,NM_001127717,NM_001127718,NM_000227 LAMA3,LAMA3,LAMA3,LAMA3 EXON Synonymous_G2859G,Synonymous_G2803G,Synonymous_G1194G,Synonymous_G1250G exm1379086 18 21512176 [T/C] NM_198129,NM_001127717,NM_001127718,NM_000227 LAMA3,LAMA3,LAMA3,LAMA3 EXON Missense_H2877Y,Missense_H2821Y,Missense_H1212Y,Missense_H1268Y exm1379087 18 21512203 [T/C] NM_198129,NM_001127717,NM_001127718,NM_000227 LAMA3,LAMA3,LAMA3,LAMA3 EXON Missense_R2886C,Missense_R2830C,Missense_R1221C,Missense_R1277C exm2227695 18 21512212 [A/G] NM_198129,NM_001127717,NM_001127718,NM_000227 LAMA3,LAMA3,LAMA3,LAMA3 EXON Missense_G2889R,Missense_G2833R,Missense_G1224R,Missense_G1280R exm1910517 18 21513810 [A/G] NM_198129,NM_001127717,NM_001127718,NM_000227 LAMA3,LAMA3,LAMA3,LAMA3 EXON Missense_G2925R,Missense_G2869R,Missense_G1260R,Missense_G1316R exm1379095 18 21513888 [T/C] NM_198129,NM_001127717,NM_001127718,NM_000227 LAMA3,LAMA3,LAMA3,LAMA3 EXON Missense_R2951C,Missense_R2895C,Missense_R1286C,Missense_R1342C exm1910519 18 21519269 [A/C] NM_198129,NM_001127717,NM_001127718,NM_000227 LAMA3,LAMA3,LAMA3,LAMA3 EXON Missense_A2982D,Missense_A2926D,Missense_A1317D,Missense_A1373D exm1379104 18 21523934 [T/C] NM_198129,NM_001127717,NM_001127718,NM_000227 LAMA3,LAMA3,LAMA3,LAMA3 EXON Missense_T3070M,Missense_T3014M,Missense_T1405M,Missense_T1461M exm1379107 18 21526138 [T/C] NM_198129,NM_001127717,NM_001127718,NM_000227 LAMA3,LAMA3,LAMA3,LAMA3 EXON Missense_R3081C,Missense_R3025C,Missense_R1416C,Missense_R1472C exm1379112 18 21529730 [A/G] NM_198129,NM_001127717,NM_001127718,NM_000227 LAMA3,LAMA3,LAMA3,LAMA3 EXON Missense_S3118N,Missense_S3062N,Missense_S1453N,Missense_S1509N exm1379114 18 21529777 [G/C] NM_198129,NM_001127717,NM_001127718,NM_000227 LAMA3,LAMA3,LAMA3,LAMA3 EXON Missense_D3134H,Missense_D3078H,Missense_D1469H,Missense_D1525H exm1379116 18 21529813 [A/G] NM_198129,NM_001127717,NM_001127718,NM_000227 LAMA3,LAMA3,LAMA3,LAMA3 EXON Missense_G3146R,Missense_G3090R,Missense_G1481R,Missense_G1537R exm1379118 18 21530040 [T/C] NM_198129,NM_001127717,NM_001127718,NM_000227 LAMA3,LAMA3,LAMA3,LAMA3 EXON Missense_R3187C,Missense_R3131C,Missense_R1522C,Missense_R1578C exm1379119 18 21530055 [A/T] NM_198129,NM_001127717,NM_001127718,NM_000227 LAMA3,LAMA3,LAMA3,LAMA3 EXON Missense_T3192S,Missense_T3136S,Missense_T1527S,Missense_T1583S exm1379120 18 21530071 [A/G] NM_198129,NM_001127717,NM_001127718,NM_000227 LAMA3,LAMA3,LAMA3,LAMA3 EXON Missense_H3197R,Missense_H3141R,Missense_H1532R,Missense_H1588R exm1379125 18 21531654 [A/G] NM_198129,NM_001127717,NM_001127718,NM_000227 LAMA3,LAMA3,LAMA3,LAMA3 EXON Missense_A3217T,Missense_A3161T,Missense_A1552T,Missense_A1608T exm2268135 18 21574459 [A/G] NM_153211 TTC39C Silent exm1379147 18 21660623 [A/C] NM_153211,NM_001135993 TTC39C,TTC39C EXON Missense_L118I,Missense_L179I exm1379152 18 21662908 [T/C] NM_153211,NM_001135993 TTC39C,TTC39C EXON Missense_R222C,Missense_R283C exm1379158 18 21663033 [A/G] NM_153211,NM_001135993 TTC39C,TTC39C EXON Missense_I263M,Missense_I324M exm2253362 18 21682649 [A/G] NM_153211,NM_001135993 TTC39C,TTC39C Silent,Silent exm1379167 18 21698118 [A/G] NM_153211,NM_001135993 TTC39C,TTC39C EXON Missense_K309E,Missense_K370E exm1379168 18 21698195 [A/G] NM_153211,NM_001135993 TTC39C,TTC39C EXON Synonymous_A334A,Synonymous_A395A exm1379174 18 21705440 [T/C] NM_153211,NM_001135993 TTC39C,TTC39C EXON Missense_A388V,Missense_A449V exm2276566 18 21710311 [A/G] NM_153211,NM_001135993 TTC39C,TTC39C EXON Missense_R457H,Missense_R518H exm2253363 18 21710336 [A/G] NM_153211,NM_001135993 TTC39C,TTC39C EXON Synonymous_P465P,Synonymous_P526P exm1379181 18 21710336 [A/G] NM_153211,NM_001135993 TTC39C,TTC39C EXON Synonymous_P465P,Synonymous_P526P exm1379200 18 21723194 [G/C] NM_138643,NM_153768,NM_153770,NM_153769,NM_012189,NM_138644 CABYR,CABYR,CABYR,CABYR,CABYR,CABYR EXON Silent,Missense_A39G,Missense_A39G,Missense_A39G,Missense_A39G,Missense_A39G exm1379205 18 21735686 [T/C] NM_138643,NM_153768,NM_153770,NM_153769,NM_012189,NM_138644 CABYR,CABYR,CABYR,CABYR,CABYR,CABYR EXON Silent,Missense_T56M,Missense_T74M,Missense_T74M,Missense_T74M,Missense_T74M exm1379206 18 21735691 [T/C] NM_138643,NM_153768,NM_153770,NM_153769,NM_012189,NM_138644 CABYR,CABYR,CABYR,CABYR,CABYR,CABYR EXON Silent,Missense_P58S,Missense_P76S,Missense_P76S,Missense_P76S,Missense_P76S exm1379207 18 21735746 [A/G] NM_138643,NM_153768,NM_153770,NM_153769,NM_012189,NM_138644 CABYR,CABYR,CABYR,CABYR,CABYR,CABYR EXON Silent,Missense_K76R,Missense_K94R,Missense_K94R,Missense_K94R,Missense_K94R exm1379217 18 21736021 [A/G] NM_138643,NM_153768,NM_153770,NM_153769,NM_012189,NM_138644 CABYR,CABYR,CABYR,CABYR,CABYR,CABYR EXON Silent,Missense_I168V,Silent,Silent,Missense_I186V,Silent exm1379220 18 21736121 [T/C] NM_138643,NM_153768,NM_153770,NM_153769,NM_012189,NM_138644 CABYR,CABYR,CABYR,CABYR,CABYR,CABYR EXON Silent,Missense_M201T,Silent,Silent,Missense_M219T,Silent exm1379228 18 21736319 [T/C] NM_138643,NM_153768,NM_153770,NM_153769,NM_012189,NM_138644 CABYR,CABYR,CABYR,CABYR,CABYR,CABYR EXON Silent,Missense_I267T,Silent,Silent,Missense_I285T,Silent exm1379232 18 21736378 [A/G] NM_138643,NM_153768,NM_153770,NM_153769,NM_012189,NM_138644 CABYR,CABYR,CABYR,CABYR,CABYR,CABYR EXON Silent,Missense_G287R,Silent,Silent,Missense_G305R,Silent exm1379236 18 21736486 [T/C] NM_138643,NM_153768,NM_153770,NM_153769,NM_012189,NM_138644 CABYR,CABYR,CABYR,CABYR,CABYR,CABYR EXON Silent,Nonsense_R323X,Silent,Silent,Nonsense_R341X,Silent exm1379252 18 21736817 [T/C] NM_138643,NM_153768,NM_153770,NM_153769,NM_012189,NM_138644 CABYR,CABYR,CABYR,CABYR,CABYR,CABYR EXON Silent,Missense_L433P,Silent,Silent,Missense_L451P,Silent exm1379255 18 21736933 [T/G] NM_138643,NM_153768,NM_153770,NM_153769,NM_012189,NM_138644 CABYR,CABYR,CABYR,CABYR,CABYR,CABYR EXON Silent,Missense_S472A,Silent,Silent,Missense_S490A,Silent exm1379259 18 21739505 [A/G] NM_138643,NM_153768,NM_153770,NM_153769,NM_012189,NM_138644 CABYR,CABYR,CABYR,CABYR,CABYR,CABYR EXON Missense_D106G,Silent,Silent,Missense_D204G,Silent,Missense_D204G exm1379260 18 21739506 [T/A] NM_138643,NM_153768,NM_153770,NM_153769,NM_012189,NM_138644 CABYR,CABYR,CABYR,CABYR,CABYR,CABYR EXON Missense_D106E,Silent,Silent,Missense_D204E,Silent,Missense_D204E exm1379263 18 21739525 [G/C] NM_138643,NM_153768,NM_153770,NM_153769,NM_012189,NM_138644 CABYR,CABYR,CABYR,CABYR,CABYR,CABYR EXON Missense_P113A,Silent,Silent,Missense_P211A,Silent,Missense_P211A exm1379277 18 21740003 [A/G] NM_138643,NM_153768,NM_153770,NM_153769,NM_012189,NM_138644 CABYR,CABYR,CABYR,CABYR,CABYR,CABYR EXON Missense_H272R,Silent,Missense_H212R,Missense_H370R,Silent,Missense_H370R exm1379279 18 21740009 [A/G] NM_138643,NM_153768,NM_153770,NM_153769,NM_012189,NM_138644 CABYR,CABYR,CABYR,CABYR,CABYR,CABYR EXON Missense_R274H,Silent,Missense_R214H,Missense_R372H,Silent,Missense_R372H exm1379287 18 21743216 [T/C] NM_018030,NM_080597,NM_001242508 OSBPL1A,OSBPL1A,OSBPL1A EXON Missense_N414S,Missense_N927S,Missense_N545S exm1379304 18 21747337 [T/C] NM_018030,NM_080597,NM_001242508 OSBPL1A,OSBPL1A,OSBPL1A EXON Missense_V318I,Missense_V831I,Missense_V449I exm1379307 18 21747391 [A/T] NM_018030,NM_080597,NM_001242508 OSBPL1A,OSBPL1A,OSBPL1A EXON Missense_L300M,Missense_L813M,Missense_L431M exm1379308 18 21747400 [A/G] NM_018030,NM_080597,NM_001242508 OSBPL1A,OSBPL1A,OSBPL1A EXON Missense_S297P,Missense_S810P,Missense_S428P exm-rs9635963 18 21749615 [A/G] NM_018030,NM_080597,NM_001242508 OSBPL1A,OSBPL1A,OSBPL1A Silent,Silent,Silent exm1379309 18 21750298 [T/C] NM_018030,NM_080597,NM_001242508 OSBPL1A,OSBPL1A,OSBPL1A EXON Missense_S291N,Missense_S804N,Missense_S422N exm1379312 18 21750344 [T/C] NM_018030,NM_080597,NM_001242508 OSBPL1A,OSBPL1A,OSBPL1A EXON Missense_A276T,Missense_A789T,Missense_A407T exm1379316 18 21751386 [T/C] NM_018030,NM_080597,NM_001242508 OSBPL1A,OSBPL1A,OSBPL1A EXON Missense_I247V,Missense_I760V,Missense_I378V exm1379319 18 21752340 [T/C] NM_018030,NM_080597,NM_001242508 OSBPL1A,OSBPL1A,OSBPL1A EXON Missense_K221R,Missense_K734R,Missense_K352R exm1379322 18 21752415 [A/G] NM_018030,NM_080597,NM_001242508 OSBPL1A,OSBPL1A,OSBPL1A EXON Missense_T196I,Missense_T709I,Missense_T327I exm1379327 18 21758053 [T/C] NM_018030,NM_080597,NM_001242508 OSBPL1A,OSBPL1A,OSBPL1A EXON Missense_I160V,Missense_I673V,Missense_I291V exm1379328 18 21758157 [T/C] NM_018030,NM_080597,NM_001242508 OSBPL1A,OSBPL1A,OSBPL1A EXON Missense_D125G,Missense_D638G,Missense_D256G exm1379335 18 21761131 [C/G] NM_018030,NM_080597,NM_001242508 OSBPL1A,OSBPL1A,OSBPL1A EXON Missense_S84C,Missense_S597C,Missense_S215C exm1379345 18 21776090 [T/A] NM_018030,NM_080597,NM_001242508 OSBPL1A,OSBPL1A,OSBPL1A EXON Missense_M46K,Missense_M559K,Missense_M177K exm1910614 18 21805039 [A/C] NM_018030,NM_080597,NM_001242508 OSBPL1A,OSBPL1A,OSBPL1A EXON Missense_G10V,Missense_G523V,Missense_G141V exm1379363 18 21819213 [T/C] NM_018030,NM_080597,NM_001242508 OSBPL1A,OSBPL1A,OSBPL1A EXON Silent,Missense_S472N,Missense_S90N exm1379367 18 21860822 [A/G] NM_080597,NM_001242508 OSBPL1A,OSBPL1A EXON Missense_F422S,Missense_F40S exm1379374 18 21891974 [T/C] NM_080597 OSBPL1A EXON Missense_A356T exm1379379 18 21892049 [T/C] NM_080597 OSBPL1A EXON Missense_E331K exm1379384 18 21897114 [A/G] NM_080597 OSBPL1A EXON Missense_T290M exm1379397 18 21898747 [T/C] NM_080597 OSBPL1A EXON Missense_G218S exm1379402 18 21912975 [A/G] NM_080597 OSBPL1A EXON Missense_R186W exm1379403 18 21913010 [T/C] NM_080597 OSBPL1A EXON Missense_Q174R exm1379404 18 21913016 [A/G] NM_080597 OSBPL1A EXON Missense_S172L exm1379405 18 21913036 [T/A] NM_080597 OSBPL1A EXON Missense_N165K exm1910635 18 21914213 [A/G] NM_080597 OSBPL1A EXON Missense_A159V exm-rs7227401 18 21938658 [T/G] NM_080597 OSBPL1A Silent exm2276567 18 21957412 [A/G] NM_080597 OSBPL1A EXON Missense_A29V exm1379425 18 22008833 [T/G] NM_018439 IMPACT EXON Missense_V56L exm1379426 18 22008842 [T/C] NM_018439 IMPACT EXON Missense_P59S exm1379437 18 22020467 [A/T] NM_018439 IMPACT EXON Missense_D125E exm1379438 18 22020496 [T/C] NM_018439 IMPACT EXON Missense_V135A exm1379440 18 22020525 [T/C] NM_018439 IMPACT EXON Missense_C145R exm1379442 18 22020543 [G/C] NM_018439 IMPACT EXON Missense_L151V exm1910658 18 22023070 [A/G] NM_018439 IMPACT EXON Missense_R183K exm1379457 18 22029819 [C/G] NM_018439 IMPACT EXON Missense_R266G exm1379459 18 22029852 [T/C] NM_018439 IMPACT EXON Missense_R277C exm1379465 18 22030783 [T/G] NM_018439 IMPACT EXON Missense_R312I exm1379471 18 22048785 [T/C] NM_001143828,NM_001160166,NM_021624 HRH4,HRH4,HRH4 EXON Silent,Silent,Missense_T76M exm1910672 18 22048821 [T/G] NM_001143828,NM_001160166,NM_021624 HRH4,HRH4,HRH4 EXON Silent,Silent,Missense_V88G exm1379476 18 22056759 [T/A] NM_001143828,NM_001160166,NM_021624 HRH4,HRH4,HRH4 EXON Silent,Silent,Missense_M136L exm1379477 18 22056766 [T/C] NM_001143828,NM_001160166,NM_021624 HRH4,HRH4,HRH4 EXON Silent,Silent,Missense_A138V exm1910676 18 22056963 [T/C] NM_001143828,NM_001160166,NM_021624 HRH4,HRH4,HRH4 EXON Missense_R116C,Silent,Missense_R204C exm1379484 18 22056970 [A/G] NM_001143828,NM_001160166,NM_021624 HRH4,HRH4,HRH4 EXON Missense_H118R,Silent,Missense_H206R exm1379488 18 22057144 [T/G] NM_001143828,NM_001160166,NM_021624 HRH4,HRH4,HRH4 EXON Missense_R176I,Silent,Missense_R264I exm1379501 18 22057509 [T/C] NM_001143828,NM_001160166,NM_021624 HRH4,HRH4,HRH4 EXON Missense_R298W,Silent,Missense_R386W exm2253364 18 22301983 [A/G] exm2268136 18 22361567 [A/G] exm1379512 18 22669540 [T/A] NM_015461 ZNF521 EXON Missense_F1265L exm1379531 18 22804374 [T/C] NM_015461 ZNF521 EXON Missense_S1170G exm1379534 18 22804397 [T/C] NM_015461 ZNF521 EXON Missense_R1162Q exm1379554 18 22804911 [A/G] NM_015461 ZNF521 EXON Missense_R991W exm1379558 18 22805073 [G/C] NM_015461 ZNF521 EXON Missense_R937G exm1379563 18 22805229 [T/C] NM_015461 ZNF521 EXON Missense_M885V exm1379565 18 22805247 [T/C] NM_015461 ZNF521 EXON Missense_V879I exm1379567 18 22805285 [T/C] NM_015461 ZNF521 EXON Missense_Q866R exm1379568 18 22805294 [G/C] NM_015461 ZNF521 EXON Missense_T863S exm1379572 18 22805376 [T/C] NM_015461 ZNF521 EXON Missense_E836K exm1379585 18 22805854 [T/G] NM_015461 ZNF521 EXON Missense_Q676H exm1379606 18 22806489 [C/G] NM_015461 ZNF521 EXON Missense_P465A exm1379607 18 22806533 [T/C] NM_015461 ZNF521 EXON Missense_Y450C exm1379611 18 22806626 [C/G] NM_015461 ZNF521 EXON Missense_A419G exm1379620 18 22806822 [T/C] NM_015461 ZNF521 EXON Missense_V354M exm1379626 18 22806966 [T/C] NM_015461 ZNF521 EXON Missense_G306R exm1379627 18 22806981 [T/C] NM_015461 ZNF521 EXON Missense_E301K exm1379628 18 22807011 [T/C] NM_015461 ZNF521 EXON Missense_V291I exm1379665 18 22902065 [T/C] NM_015461 ZNF521 EXON Missense_D43N exm1379669 18 22902088 [A/G] NM_015461 ZNF521 EXON Missense_P35L exm1910724 18 22902101 [T/A] NM_015461 ZNF521 EXON Missense_C31S exm2272650 18 23178593 [T/G] exm-rs1840440 18 23257186 [T/C] exm2268083 18 23413944 [A/G] exm2268137 18 23584044 [A/G] exm1379689 18 23612484 [C/G] NM_001007559,NM_005637 SS18,SS18 EXON Missense_G370A,Missense_G339A exm1379691 18 23615004 [A/C] NM_001007559,NM_005637 SS18,SS18 EXON Missense_G354V,Missense_G323V exm1379709 18 23619415 [T/C] NM_001007559,NM_005637 SS18,SS18 EXON Missense_M205V,Missense_M205V exm1379710 18 23632611 [T/C] NM_001007559,NM_005637 SS18,SS18 EXON Missense_N195S,Missense_N195S exm1379717 18 23637626 [T/C] NM_001007559,NM_005637 SS18,SS18 EXON Missense_M104I,Missense_M104I exm1379731 18 23724560 [T/C] NM_144662,NM_001025097,NM_001025096 PSMA8,PSMA8,PSMA8 EXON Missense_V47A,Silent,Missense_V47A exm1379733 18 23724648 [A/G] NM_144662,NM_001025097,NM_001025096 PSMA8,PSMA8,PSMA8 EXON Synonymous_A76A,Silent,Synonymous_A76A exm1379736 18 23731861 [A/G] NM_144662,NM_001025097,NM_001025096 PSMA8,PSMA8,PSMA8 EXON Missense_R96H,Missense_R52H,Missense_R90H exm1379740 18 23731896 [A/G] NM_144662,NM_001025097,NM_001025096 PSMA8,PSMA8,PSMA8 EXON Missense_D108N,Missense_D64N,Missense_D102N exm1379742 18 23731909 [T/C] NM_144662,NM_001025097,NM_001025096 PSMA8,PSMA8,PSMA8 EXON Missense_V112A,Missense_V68A,Missense_V106A exm1379772 18 23807184 [T/C] NM_005640 TAF4B EXON Missense_V96A exm2272721 18 23836019 [T/C] NM_005640 TAF4B Silent exm1379777 18 23845244 [A/G] NM_005640 TAF4B EXON Missense_A152T exm1379778 18 23845245 [T/C] NM_005640 TAF4B EXON Missense_A152V exm1379781 18 23847484 [G/C] NM_005640 TAF4B EXON Missense_S165C exm1379787 18 23847561 [A/G] NM_005640 TAF4B EXON Missense_T191A exm1379795 18 23854774 [A/G] NM_005640 TAF4B EXON Missense_I249V exm1379796 18 23854777 [A/G] NM_005640 TAF4B EXON Missense_N250D exm1379805 18 23865868 [A/G] NM_005640 TAF4B EXON Missense_Q332R exm1379810 18 23865954 [A/G] NM_005640 TAF4B EXON Missense_V361I exm1910790 18 23865998 [T/G] NM_005640 TAF4B EXON Missense_Q375H exm1379816 18 23866021 [T/C] NM_005640 TAF4B EXON Missense_S383F exm1910791 18 23866029 [A/G] NM_005640 TAF4B EXON Missense_T386A exm1379819 18 23866093 [T/C] NM_005640 TAF4B EXON Missense_A407V exm1379820 18 23866125 [A/G] NM_005640 TAF4B EXON Missense_T418A exm1379822 18 23866185 [C/G] NM_005640 TAF4B EXON Missense_V438L exm1379823 18 23866219 [T/C] NM_005640 TAF4B EXON Missense_S449L exm1379824 18 23866252 [T/C] NM_005640 TAF4B EXON Missense_T460I exm1379835 18 23872235 [A/G] NM_005640 TAF4B EXON Missense_N539S exm1379836 18 23872238 [A/C] NM_005640 TAF4B EXON Missense_E540A exm1379842 18 23895234 [T/G] NM_005640 TAF4B EXON Missense_V625G exm1910804 18 23895329 [A/G] NM_005640 TAF4B EXON Missense_I657V exm1379855 18 23901159 [T/C] NM_005640 TAF4B EXON Missense_Y710H exm1379872 18 24035739 [T/C] NM_001142730,NM_198991,NM_001258222,NM_001136205,NM_001258221 KCTD1,KCTD1,KCTD1,KCTD1,KCTD1 EXON Missense_V856I,Missense_V248I,Missense_V256I,Missense_V248I,Missense_V248I exm2253368 18 24035788 [A/G] NM_001142730,NM_198991,NM_001258222,NM_001136205,NM_001258221 KCTD1,KCTD1,KCTD1,KCTD1,KCTD1 EXON Synonymous_S839S,Synonymous_S231S,Synonymous_S239S,Synonymous_S231S,Synonymous_S231S exm1379887 18 24039762 [T/C] NM_001142730,NM_198991,NM_001258222,NM_001136205,NM_001258221 KCTD1,KCTD1,KCTD1,KCTD1,KCTD1 EXON Missense_R754H,Missense_R146H,Missense_R154H,Missense_R146H,Missense_R146H exm1379894 18 24056623 [T/C] NM_001142730,NM_198991,NM_001258222,NM_001136205,NM_001258221 KCTD1,KCTD1,KCTD1,KCTD1,KCTD1 EXON Synonymous_R663R,Synonymous_R55R,Synonymous_R63R,Synonymous_R55R,Synonymous_R55R exm2253370 18 24125857 [T/C] NM_001142730,NM_198991,NM_001258222,NM_001136205,NM_001258221 KCTD1,KCTD1,KCTD1,KCTD1,KCTD1 Silent,Silent,Silent,Silent,Silent exm2227714 18 24127003 [T/A] NM_001142730,NM_198991,NM_001258222,NM_001136205,NM_001258221 KCTD1,KCTD1,KCTD1,KCTD1,KCTD1 EXON Missense_S500T,Silent,Silent,Silent,Silent exm-rs16942421 18 24156425 [T/G] NM_198991,NM_001258222 KCTD1,KCTD1 Silent,Silent exm1379926 18 24436192 [T/C] NM_001650,NM_004028 AQP4,AQP4 EXON Missense_V319I,Missense_V297I exm1379938 18 24440758 [A/G] NM_001650,NM_004028 AQP4,AQP4 EXON Missense_M224T,Missense_M202T exm1379947 18 24441155 [T/A] NM_001650,NM_004028 AQP4,AQP4 EXON Missense_D184E,Missense_D162E exm1379948 18 24441163 [A/G] NM_001650,NM_004028 AQP4,AQP4 EXON Missense_R182W,Missense_R160W exm1379959 18 24442210 [A/G] NM_001650,NM_004028 AQP4,AQP4 EXON Missense_I128T,Missense_I106T exm1379976 18 24442493 [A/G] NM_001650,NM_004028 AQP4,AQP4 EXON Missense_F34L,Missense_F12L exm1379978 18 24442537 [C/G] NM_001650,NM_004028 AQP4,AQP4 EXON Missense_R19T,Silent exm2268084 18 24462611 [A/G] NR_026908 AQP4-AS1 Silent exm1379987 18 24496234 [A/G] NR_026908,NM_031422,NM_001256316 AQP4-AS1,CHST9,CHST9 EXON Silent,Missense_P441S,Silent exm1910886 18 24496374 [T/C] NR_026908,NM_031422,NM_001256316 AQP4-AS1,CHST9,CHST9 EXON Silent,Missense_N394S,Silent exm1379997 18 24496495 [T/A] NR_026908,NM_031422,NM_001256316 AQP4-AS1,CHST9,CHST9 EXON Silent,Missense_S354C,Silent exm1380000 18 24496614 [T/C] NR_026908,NM_031422,NM_001256316 AQP4-AS1,CHST9,CHST9 EXON Silent,Missense_R314Q,Silent exm1380007 18 24496771 [T/C] NR_026908,NM_031422,NM_001256316 AQP4-AS1,CHST9,CHST9 EXON Silent,Missense_D262N,Silent exm1380014 18 24497039 [A/C] NR_026908,NM_031422,NM_001256316 AQP4-AS1,CHST9,CHST9 EXON Silent,Missense_E172D,Silent exm1380019 18 24497108 [T/C] NR_026908,NM_031422,NM_001256316 AQP4-AS1,CHST9,CHST9 EXON Silent,Missense_M149I,Silent exm1380021 18 24497190 [T/C] NR_026908,NM_031422,NM_001256316 AQP4-AS1,CHST9,CHST9 EXON Silent,Missense_S122N,Silent exm1380040 18 24604092 [T/C] NM_031422,NM_001256316 CHST9,CHST9 EXON Missense_V64I,Missense_V64I exm1380041 18 24604097 [T/C] NM_031422,NM_001256316 CHST9,CHST9 EXON Missense_R62Q,Missense_R62Q exm1380042 18 24604116 [A/C] NM_031422,NM_001256316 CHST9,CHST9 EXON Nonsense_G56X,Nonsense_G56X exm2227717 18 24628464 [T/C] NM_031422,NM_001256316 CHST9,CHST9 EXON Missense_R42K,Missense_R42K exm2260744 18 25048913 [A/G] exm2272652 18 25197947 [T/G] exm-rs8084703 18 25496945 [A/G] exm2268085 18 25502001 [A/G] exm1380057 18 25532304 [T/C] NM_001792 CDH2 EXON Missense_N845S exm1380066 18 25543452 [T/G] NM_001792 CDH2 EXON Missense_T795P exm1380077 18 25565023 [C/G] NM_001792 CDH2 EXON Missense_G717A exm1380081 18 25565157 [T/A] NM_001792 CDH2 EXON Missense_E672D exm1380105 18 25572657 [T/C] NM_001792 CDH2 EXON Missense_D436N exm1380128 18 25583056 [T/C] NM_001792 CDH2 EXON Missense_V309M exm1380134 18 25583116 [T/C] NM_001792 CDH2 EXON Missense_V289I exm1380150 18 25593694 [T/C] NM_001792 CDH2 EXON Missense_A118T exm1380152 18 25593750 [T/C] NM_001792 CDH2 EXON Missense_H99R exm1380153 18 25593772 [T/C] NM_001792 CDH2 EXON Missense_S92G exm1380155 18 25593815 [A/T] NM_001792 CDH2 EXON Synonymous_A77A exm1380167 18 25727661 [A/G] NM_001792 CDH2 EXON Missense_H50Y exm1380170 18 25727739 [G/C] NM_001792 CDH2 EXON Missense_E24Q exm1380173 18 25727748 [T/C] NM_001792 CDH2 EXON Missense_A21T exm-rs11083271 18 25926059 [T/C] exm2268139 18 26055555 [A/G] exm-rs4131805 18 26059112 [T/C] exm2272653 18 26223745 [T/C] exm-rs4145170 18 26676672 [A/G] exm2268086 18 26719357 [A/G] exm2272722 18 26862435 [T/C] exm2253384 18 27378023 [A/G] exm2272654 18 28109801 [T/C] exm-rs2729409 18 28141688 [A/G] exm1911113 18 28574152 [T/C] NM_024423,NM_001941 DSC3,DSC3 EXON Silent,Missense_T894A exm1380182 18 28574179 [A/T] NM_024423,NM_001941 DSC3,DSC3 EXON Silent,Nonsense_K885X exm1911117 18 28574307 [T/C] NM_024423,NM_001941 DSC3,DSC3 EXON Silent,Missense_R842H exm1380192 18 28574450 [T/C] NM_024423,NM_001941 DSC3,DSC3 EXON Missense_G836R,Silent exm1380194 18 28576756 [T/C] NM_024423,NM_001941 DSC3,DSC3 Silent,Silent exm1380195 18 28576762 [T/C] NM_024423,NM_001941 DSC3,DSC3 EXON Missense_G830S,Missense_G830S exm1380206 18 28577016 [T/C] NM_024423,NM_001941 DSC3,DSC3 Silent,Silent exm1380209 18 28581601 [A/G] NM_024423,NM_001941 DSC3,DSC3 EXON Missense_P740S,Missense_P740S exm1911131 18 28581655 [A/G] NM_024423,NM_001941 DSC3,DSC3 EXON Missense_R722C,Missense_R722C exm1380216 18 28584185 [A/G] NM_024423,NM_001941 DSC3,DSC3 EXON Missense_A679V,Missense_A679V exm1380221 18 28584281 [G/C] NM_024423,NM_001941 DSC3,DSC3 EXON Missense_T647S,Missense_T647S exm1380241 18 28588260 [T/C] NM_024423,NM_001941 DSC3,DSC3 EXON Missense_E499K,Missense_E499K exm1380242 18 28588281 [T/C] NM_024423,NM_001941 DSC3,DSC3 EXON Missense_G492S,Missense_G492S exm1380246 18 28588349 [A/G] NM_024423,NM_001941 DSC3,DSC3 EXON Missense_P469L,Missense_P469L exm1380247 18 28588385 [A/C] NM_024423,NM_001941 DSC3,DSC3 EXON Missense_L457W,Missense_L457W exm1911142 18 28588469 [T/C] NM_024423,NM_001941 DSC3,DSC3 EXON Missense_R429H,Missense_R429H exm1380252 18 28588470 [A/G] NM_024423,NM_001941 DSC3,DSC3 EXON Missense_R429C,Missense_R429C exm1380256 18 28598091 [A/T] NM_024423,NM_001941 DSC3,DSC3 EXON Missense_H403Q,Missense_H403Q exm1380268 18 28602337 [T/C] NM_024423,NM_001941 DSC3,DSC3 EXON Missense_V303I,Missense_V303I exm1380269 18 28602379 [A/G] NM_024423,NM_001941 DSC3,DSC3 EXON Missense_P289S,Missense_P289S exm1380271 18 28602408 [T/C] NM_024423,NM_001941 DSC3,DSC3 EXON Missense_R279H,Missense_R279H exm1380272 18 28602409 [G/C] NM_024423,NM_001941 DSC3,DSC3 EXON Missense_R279G,Missense_R279G exm1380275 18 28602426 [A/G] NM_024423,NM_001941 DSC3,DSC3 EXON Missense_P273L,Missense_P273L exm1380280 18 28604374 [T/C] NM_024423,NM_001941 DSC3,DSC3 EXON Missense_N239S,Missense_N239S exm1380281 18 28604422 [A/G] NM_024423,NM_001941 DSC3,DSC3 EXON Missense_A223V,Missense_A223V exm1380285 18 28605748 [T/C] NM_024423,NM_001941 DSC3,DSC3 EXON Missense_R203H,Missense_R203H exm1380287 18 28605761 [A/G] NM_024423,NM_001941 DSC3,DSC3 EXON Missense_R199W,Missense_R199W exm1380289 18 28605818 [T/G] NM_024423,NM_001941 DSC3,DSC3 EXON Missense_K180Q,Missense_K180Q exm1380293 18 28605830 [A/G] NM_024423,NM_001941 DSC3,DSC3 EXON Missense_R176C,Missense_R176C exm1380301 18 28610988 [T/C] NM_024423,NM_001941 DSC3,DSC3 EXON Missense_R102K,Missense_R102K exm1380305 18 28611061 [A/T] NM_024423,NM_001941 DSC3,DSC3 EXON Missense_S78T,Missense_S78T exm1911167 18 28611100 [A/G] NM_024423,NM_001941 DSC3,DSC3 EXON Missense_R65W,Missense_R65W exm1380313 18 28611139 [A/C] NM_024423,NM_001941 DSC3,DSC3 Silent,Silent exm1380315 18 28612229 [T/G] NM_024423,NM_001941 DSC3,DSC3 EXON Missense_A28D,Missense_A28D exm1380317 18 28612233 [T/G] NM_024423,NM_001941 DSC3,DSC3 EXON Missense_R27S,Missense_R27S exm2253387 18 28618549 [T/G] NM_024423,NM_001941 DSC3,DSC3 Silent,Silent exm1380329 18 28648100 [T/C] NM_004949,NM_024422 DSC2,DSC2 EXON Silent,Missense_G863R exm1380330 18 28648141 [T/G] NM_004949,NM_024422 DSC2,DSC2 EXON Silent,Missense_H849P exm1380337 18 28648897 [A/G] NM_004949,NM_024422 DSC2,DSC2 EXON Missense_S824L,Missense_S824L exm1380340 18 28648975 [T/C] NM_004949,NM_024422 DSC2,DSC2 EXON Missense_R798Q,Missense_R798Q exm1380344 18 28649033 [T/C] NM_004949,NM_024422 DSC2,DSC2 EXON Missense_G779R,Missense_G779R exm1380345 18 28649042 [T/C] NM_004949,NM_024422 DSC2,DSC2 EXON Missense_I776V,Missense_I776V exm1380346 18 28649054 [T/C] NM_004949,NM_024422 DSC2,DSC2 EXON Missense_V772M,Missense_V772M exm1380353 18 28650748 [A/C] NM_004949,NM_024422 DSC2,DSC2 EXON Missense_L732V,Missense_L732V exm1380365 18 28651782 [C/G] NM_004949,NM_024422 DSC2,DSC2 EXON Missense_Q638H,Missense_Q638H exm1380366 18 28651795 [T/C] NM_004949,NM_024422 DSC2,DSC2 EXON Missense_R634H,Missense_R634H exm1380369 18 28654748 [A/C] NM_004949,NM_024422 DSC2,DSC2 EXON Missense_V597F,Missense_V597F exm1380371 18 28654750 [A/G] NM_004949,NM_024422 DSC2,DSC2 EXON Missense_A596V,Missense_A596V exm1380373 18 28654762 [A/G] NM_004949,NM_024422 DSC2,DSC2 EXON Missense_A592V,Missense_A592V exm1380377 18 28654808 [T/C] NM_004949,NM_024422 DSC2,DSC2 EXON Missense_I577V,Missense_I577V exm1380378 18 28654816 [T/C] NM_004949,NM_024422 DSC2,DSC2 EXON Missense_S574N,Missense_S574N exm1380406 18 28662896 [A/G] NM_004949,NM_024422 DSC2,DSC2 EXON Missense_T358I,Missense_T358I exm1380411 18 28666574 [T/C] NM_004949,NM_024422 DSC2,DSC2 EXON Missense_V303M,Missense_V303M exm1380415 18 28666627 [A/G] NM_004949,NM_024422 DSC2,DSC2 EXON Missense_I285T,Missense_I285T exm1380419 18 28666679 [T/C] NM_004949,NM_024422 DSC2,DSC2 EXON Missense_T268A,Missense_T268A exm1380436 18 28671068 [T/C] NM_004949,NM_024422 DSC2,DSC2 EXON Missense_A133T,Missense_A133T exm1380442 18 28672114 [T/C] NM_004949,NM_024422 DSC2,DSC2 EXON Missense_E102K,Missense_E102K exm1380445 18 28672152 [A/G] NM_004949,NM_024422 DSC2,DSC2 EXON Missense_S89L,Missense_S89L exm1380450 18 28672246 [A/C] NM_004949,NM_024422 DSC2,DSC2 EXON Missense_F58V,Missense_F58V exm1380452 18 28673540 [T/C] NM_004949,NM_024422 DSC2,DSC2 EXON Missense_E46K,Missense_E46K exm2268141 18 28683238 [A/G] exm1380464 18 28710560 [A/G] NM_004948,NM_024421 DSC1,DSC1 EXON Silent,Missense_R868W exm1380481 18 28711594 [A/G] NM_004948,NM_024421 DSC1,DSC1 EXON Missense_T817M,Missense_T817M exm1380489 18 28712531 [T/C] NM_004948,NM_024421 DSC1,DSC1 EXON Synonymous_T746T,Synonymous_T746T exm1380490 18 28712532 [A/G] NM_004948,NM_024421 DSC1,DSC1 EXON Missense_T746M,Missense_T746M exm1380492 18 28712551 [G/C] NM_004948,NM_024421 DSC1,DSC1 EXON Missense_G740R,Missense_G740R exm1380494 18 28712654 [T/C] NM_004948,NM_024421 DSC1,DSC1 Silent,Silent exm1380497 18 28713866 [T/C] NM_004948,NM_024421 DSC1,DSC1 EXON Missense_V702I,Missense_V702I exm1380501 18 28713955 [T/C] NM_004948,NM_024421 DSC1,DSC1 EXON Missense_E672G,Missense_E672G exm1380503 18 28713994 [A/G] NM_004948,NM_024421 DSC1,DSC1 EXON Missense_M659T,Missense_M659T exm1380513 18 28714687 [C/G] NM_004948,NM_024421 DSC1,DSC1 EXON Missense_P575R,Missense_P575R exm1380516 18 28714717 [A/G] NM_004948,NM_024421 DSC1,DSC1 EXON Missense_V565A,Missense_V565A exm1380520 18 28719785 [A/C] NM_004948,NM_024421 DSC1,DSC1 EXON Missense_L530R,Missense_L530R exm1380522 18 28719812 [T/G] NM_004948,NM_024421 DSC1,DSC1 EXON Missense_N521T,Missense_N521T exm1380529 18 28720032 [A/G] NM_004948,NM_024421 DSC1,DSC1 EXON Missense_P498L,Missense_P498L exm1380534 18 28720098 [T/C] NM_004948,NM_024421 DSC1,DSC1 EXON Missense_K476R,Missense_K476R exm1380535 18 28720147 [T/C] NM_004948,NM_024421 DSC1,DSC1 EXON Missense_V460I,Missense_V460I exm1380536 18 28720174 [A/G] NM_004948,NM_024421 DSC1,DSC1 EXON Missense_P451S,Missense_P451S exm1380538 18 28720210 [T/C] NM_004948,NM_024421 DSC1,DSC1 EXON Missense_E439K,Missense_E439K exm1380559 18 28723742 [A/G] NM_004948,NM_024421 DSC1,DSC1 EXON Missense_Y318H,Missense_Y318H exm1380570 18 28728503 [A/G] NM_004948,NM_024421 DSC1,DSC1 EXON Missense_H244Y,Missense_H244Y exm1380574 18 28728603 [A/T] NM_004948,NM_024421 DSC1,DSC1 EXON Missense_L210F,Missense_L210F exm2253388 18 28734749 [A/G] NM_004948,NM_024421 DSC1,DSC1 EXON Synonymous_Y205Y,Synonymous_Y205Y exm1380578 18 28734765 [A/G] NM_004948,NM_024421 DSC1,DSC1 EXON Missense_I200T,Missense_I200T exm1380590 18 28737407 [A/G] NM_004948,NM_024421 DSC1,DSC1 EXON Missense_S93F,Missense_S93F exm1380605 18 28739443 [A/G] NM_004948,NM_024421 DSC1,DSC1 EXON Missense_P38L,Missense_P38L exm1380612 18 28742512 [C/G] NM_004948,NM_024421 DSC1,DSC1 EXON Missense_L16V,Missense_L16V exm1380618 18 28898294 [A/G] NM_001942 DSG1 EXON Missense_M11V exm1380619 18 28898303 [T/A] NM_001942 DSG1 EXON Missense_I14F exm-rs7236477 18 28902322 [A/G] NM_001942 DSG1 Silent exm1380624 18 28908153 [T/C] NM_001942 DSG1 EXON Missense_I73T exm1380626 18 28908178 [C/G] NM_001942 DSG1 EXON Missense_Q81H exm1380627 18 28908281 [A/G] NM_001942 DSG1 EXON Missense_D116N exm1380636 18 28911706 [T/C] NM_001942 DSG1 EXON Missense_P187L exm1380647 18 28913601 [T/G] NM_001942 DSG1 EXON Missense_G245V exm1380651 18 28914021 [T/G] NM_001942 DSG1 EXON Missense_L287F exm1380656 18 28914143 [T/C] NM_001942 DSG1 EXON Missense_V328A exm1380671 18 28918381 [A/G] NM_001942 DSG1 EXON Missense_G457R exm1380678 18 28919779 [A/C] NM_001942 DSG1 EXON Missense_N493T exm1380681 18 28919794 [A/C] NM_001942 DSG1 EXON Missense_T498N exm1380684 18 28919884 [A/C] NM_001942 DSG1 EXON Missense_Y528S exm1380686 18 28919911 [A/G] NM_001942 DSG1 EXON Missense_K537R exm1380687 18 28919913 [A/G] NM_001942 DSG1 EXON Missense_D538N exm1380688 18 28919916 [T/G] NM_001942 DSG1 EXON Missense_L539V exm1380691 18 28923415 [A/G] NM_001942 DSG1 EXON Missense_V564I exm1380692 18 28923439 [A/G] NM_001942 DSG1 EXON Missense_D572N exm1380694 18 28923466 [A/G] NM_001942 DSG1 EXON Missense_A581T exm1380701 18 28923906 [A/G] NM_001942 DSG1 EXON Missense_I613M exm1380715 18 28926120 [A/G] NM_001942 DSG1 EXON Missense_G687R exm1380719 18 28934275 [A/G] NM_001942 DSG1 EXON Missense_A706T exm1380720 18 28934280 [A/T] NM_001942 DSG1 EXON Missense_D707E exm1380721 18 28934293 [T/C] NM_001942 DSG1 EXON Missense_R712C exm1380726 18 28934359 [T/G] NM_001942 DSG1 EXON Missense_G734C exm1380727 18 28934374 [A/G] NM_001942 DSG1 EXON Missense_I739V exm1380728 18 28934375 [T/C] NM_001942 DSG1 EXON Missense_I739T exm1911338 18 28934410 [A/C] NM_001942 DSG1 EXON Missense_L751M exm1380732 18 28934473 [A/G] NM_001942 DSG1 EXON Missense_D772N exm1380734 18 28934485 [T/C] NM_001942 DSG1 EXON Missense_P776S exm1380737 18 28934569 [A/G] NM_001942 DSG1 EXON Missense_G804S exm1380739 18 28934621 [A/T] NM_001942 DSG1 EXON Missense_L821Q exm1380745 18 28934681 [A/T] NM_001942 DSG1 EXON Missense_Y841F exm1380751 18 28934729 [A/G] NM_001942 DSG1 EXON Missense_R857Q exm1380756 18 28934767 [A/G] NM_001942 DSG1 EXON Missense_G870S exm1380764 18 28934950 [T/C] NM_001942 DSG1 EXON Missense_S931P exm1911345 18 28935073 [A/G] NM_001942 DSG1 EXON Missense_G972S exm1380774 18 28935092 [T/G] NM_001942 DSG1 EXON Missense_G978V exm1380780 18 28935182 [A/G] NM_001942 DSG1 EXON Missense_G1008E exm1380781 18 28935202 [A/G] NM_001942 DSG1 EXON Missense_M1015V exm1380788 18 28935292 [A/G] NM_001942 DSG1 EXON Missense_V1045M exm2253389 18 28956904 [T/C] NM_177986,NM_001134453 DSG4,DSG4 EXON Synonymous_C10C,Synonymous_C10C exm2227741 18 28966762 [A/G] NM_177986,NM_001134453 DSG4,DSG4 EXON Missense_K66E,Missense_K66E exm1380808 18 28968344 [A/C] NM_177986,NM_001134453 DSG4,DSG4 EXON Nonsense_C77X,Nonsense_C77X exm1380809 18 28968349 [T/C] NM_177986,NM_001134453 DSG4,DSG4 EXON Missense_S79L,Missense_S79L exm1380817 18 28968862 [A/G] NM_177986,NM_001134453 DSG4,DSG4 EXON Missense_R133Q,Missense_R133Q exm1380819 18 28968881 [C/G] NM_177986,NM_001134453 DSG4,DSG4 EXON Missense_R139S,Missense_R139S exm1380821 18 28968924 [A/G] NM_177986,NM_001134453 DSG4,DSG4 EXON Missense_A154T,Missense_A154T exm1380830 18 28970724 [T/C] NM_177986,NM_001134453 DSG4,DSG4 EXON Missense_M208T,Missense_M208T exm1380836 18 28971071 [A/G] NM_177986,NM_001134453 DSG4,DSG4 EXON Missense_G239S,Missense_G239S exm1380847 18 28972253 [A/G] NM_177986,NM_001134453 DSG4,DSG4 EXON Missense_D319N,Missense_D319N exm1380848 18 28972278 [A/G] NM_177986,NM_001134453 DSG4,DSG4 EXON Missense_N327S,Missense_N327S exm1380854 18 28979347 [A/G] NM_177986,NM_001134453 DSG4,DSG4 EXON Missense_R373K,Missense_R373K exm1380858 18 28979427 [A/G] NM_177986,NM_001134453 DSG4,DSG4 EXON Missense_G400R,Missense_G400R exm1380859 18 28979428 [A/G] NM_177986,NM_001134453 DSG4,DSG4 EXON Missense_G400E,Missense_G400E exm1380867 18 28980882 [T/C] NM_177986,NM_001134453 DSG4,DSG4 EXON Missense_I439T,Missense_I439T exm1380869 18 28980941 [A/C] NM_177986,NM_001134453 DSG4,DSG4 EXON Missense_I459L,Missense_I459L exm1380872 18 28983441 [T/C] NM_177986,NM_001134453 DSG4,DSG4 EXON Missense_C494R,Missense_C494R exm1380873 18 28983448 [A/G] NM_177986,NM_001134453 DSG4,DSG4 EXON Missense_N496S,Missense_N496S exm1380878 18 28983565 [T/C] NM_177986,NM_001134453 DSG4,DSG4 EXON Missense_I535T,Missense_I535T exm1380885 18 28986156 [T/C] NM_177986,NM_001134453 DSG4,DSG4 EXON Missense_Y585H,Missense_Y585H exm1380886 18 28986173 [A/T] NM_177986,NM_001134453 DSG4,DSG4 EXON Missense_D590E,Missense_D590E exm1380890 18 28986204 [A/G] NM_177986,NM_001134453 DSG4,DSG4 EXON Missense_A601T,Missense_A601T exm1380897 18 28986333 [A/C] NM_177986,NM_001134453 DSG4,DSG4 EXON Missense_I644L,Missense_I644L exm1380904 18 28989486 [T/C] NM_177986,NM_001134453 DSG4,DSG4 EXON Missense_P669S,Missense_P669S exm1380915 18 28991146 [T/C] NM_177986,NM_001134453 DSG4,DSG4 EXON Silent,Missense_A716V exm1380926 18 28991349 [A/G] NM_177986,NM_001134453 DSG4,DSG4 EXON Missense_T765A,Missense_T784A exm1380928 18 28991361 [T/A] NM_177986,NM_001134453 DSG4,DSG4 EXON Missense_Y769N,Missense_Y788N exm1380934 18 28992798 [A/G] NM_177986,NM_001134453 DSG4,DSG4 EXON Missense_Y788C,Missense_Y807C exm1380935 18 28992801 [T/C] NM_177986,NM_001134453 DSG4,DSG4 EXON Missense_A789V,Missense_A808V exm1380936 18 28992822 [T/G] NM_177986,NM_001134453 DSG4,DSG4 EXON Missense_G796V,Missense_G815V exm1380949 18 28993073 [A/T] NM_177986,NM_001134453 DSG4,DSG4 EXON Missense_S880T,Missense_S899T exm2276569 18 28993133 [A/G] NM_177986,NM_001134453 DSG4,DSG4 EXON Missense_V900M,Missense_V919M exm1380953 18 28993140 [A/G] NM_177986,NM_001134453 DSG4,DSG4 EXON Missense_H902R,Missense_H921R exm1380956 18 28993166 [T/C] NM_177986,NM_001134453 DSG4,DSG4 EXON Missense_Y911H,Missense_Y930H exm1380957 18 28993169 [A/G] NM_177986,NM_001134453 DSG4,DSG4 EXON Missense_G912S,Missense_G931S exm1380961 18 28993230 [A/G] NM_177986,NM_001134453 DSG4,DSG4 EXON Missense_N932S,Missense_N951S exm1380962 18 28993244 [A/G] NM_177986,NM_001134453 DSG4,DSG4 EXON Missense_E937K,Missense_E956K exm1380967 18 28993343 [A/G] NM_177986,NM_001134453 DSG4,DSG4 EXON Missense_A970T,Missense_A989T exm1380976 18 28993455 [T/C] NM_177986,NM_001134453 DSG4,DSG4 EXON Missense_M1007T,Missense_M1026T exm1380977 18 28993458 [A/G] NM_177986,NM_001134453 DSG4,DSG4 EXON Missense_S1008N,Missense_S1027N exm1380980 18 28993504 [A/G] NM_177986,NM_001134453 DSG4,DSG4 EXON Missense_M1023I,Missense_M1042I exm1911396 18 28993526 [T/C] NM_177986,NM_001134453 DSG4,DSG4 EXON Nonsense_R1031X,Nonsense_R1050X exm1380982 18 28993540 [A/G] NM_177986,NM_001134453 DSG4,DSG4 EXON Missense_I1035M,Missense_I1054M exm-rs1941184 18 29038123 [A/C] NM_001944 DSG3 Silent exm1381004 18 29038537 [A/G] NM_001944 DSG3 EXON Missense_D116N exm1381020 18 29040812 [A/G] NM_001944 DSG3 EXON Missense_R234H exm1381034 18 29044159 [A/G] NM_001944 DSG3 EXON Missense_R362Q exm1381040 18 29044288 [A/T] NM_001944 DSG3 EXON Missense_I405N exm1381049 18 29045299 [A/C] NM_001944 DSG3 EXON Missense_N430K exm1381050 18 29045300 [A/G] NM_001944 DSG3 EXON Missense_D431N exm1381057 18 29046573 [A/G] NM_001944 DSG3 EXON Missense_E498K exm1381058 18 29046606 [A/G] NM_001944 DSG3 EXON Missense_V509M exm1381059 18 29046607 [T/G] NM_001944 DSG3 EXON Missense_V509G exm1381063 18 29046693 [A/G] NM_001944 DSG3 EXON Missense_V538I exm1381071 18 29049138 [T/C] NM_001944 DSG3 EXON Missense_R575W exm1911432 18 29049247 [T/C] NM_001944 DSG3 EXON Missense_P611L exm1381092 18 29054099 [T/C] NM_001944 DSG3 EXON Missense_T706M exm1381098 18 29054189 [G/C] NM_001944 DSG3 EXON Missense_G736A exm1381100 18 29054229 [A/C] NM_001944 DSG3 EXON Missense_F749L exm1381104 18 29054285 [T/C] NM_001944 DSG3 EXON Missense_T768I exm1381107 18 29054294 [T/C] NM_001944 DSG3 EXON Missense_S771F exm1381111 18 29054330 [T/C] NM_001944 DSG3 EXON Missense_A783V exm1381117 18 29055636 [A/G] NM_001944 DSG3 EXON Missense_D805N exm1381119 18 29055684 [A/G] NM_001944 DSG3 EXON Missense_A821T exm1381120 18 29055693 [A/G] NM_001944 DSG3 EXON Missense_T824A exm1381122 18 29055705 [A/G] NM_001944 DSG3 EXON Missense_V828M exm1381131 18 29055957 [A/G] NM_001944 DSG3 EXON Missense_T912A exm1381139 18 29056101 [A/G] NM_001944 DSG3 EXON Missense_I960V exm1381140 18 29056115 [C/G] NM_001944 DSG3 EXON Missense_R964S exm1381142 18 29056170 [T/C] NM_001944 DSG3 EXON Nonsense_R983X exm1911454 18 29098211 [A/G] NM_001943 DSG2 EXON Missense_N19D exm1381152 18 29099805 [A/C] NM_001943 DSG2 EXON Missense_H41N exm1381155 18 29099850 [A/G] NM_001943 DSG2 EXON Missense_V56M exm1381158 18 29100770 [A/G] NM_001943 DSG2 EXON Missense_H74R exm1381159 18 29100815 [A/G] NM_001943 DSG2 EXON Missense_Y89C exm1381165 18 29101120 [T/G] NM_001943 DSG2 EXON Missense_R146L exm1381169 18 29101196 [T/G] NM_001943 DSG2 EXON Missense_L171F exm1381183 18 29104712 [A/G] NM_001943 DSG2 EXON Missense_R292H exm1381184 18 29104714 [A/G] NM_001943 DSG2 EXON Missense_I293V exm1381186 18 29104798 [A/T] NM_001943 DSG2 EXON Missense_F321I exm1381189 18 29104840 [A/G] NM_001943 DSG2 EXON Missense_T335A exm1381191 18 29110986 [A/G] NM_001943 DSG2 EXON Missense_S351G exm1381195 18 29111109 [A/G] NM_001943 DSG2 EXON Missense_V392I exm1381205 18 29116284 [A/G] NM_001943 DSG2 EXON Missense_V515I exm1381206 18 29116291 [T/C] NM_001943 DSG2 EXON Missense_A517V exm1381207 18 29116338 [A/G] NM_001943 DSG2 EXON Missense_V533I exm1381212 18 29118843 [T/C] NM_001943 DSG2 EXON Missense_L594P exm1381219 18 29121161 [T/C] NM_001943 DSG2 EXON Missense_P629S exm1381222 18 29121188 [A/G] NM_001943 DSG2 EXON Missense_G638R exm1381227 18 29122565 [T/C] NM_001943,NR_045216 DSG2,LOC100652770 EXON Missense_T695M,Silent exm1381229 18 29122618 [A/G] NM_001943,NR_045216 DSG2,LOC100652770 EXON Missense_E713K,Silent exm1381235 18 29122799 [A/G] NM_001943,NR_045216 DSG2,LOC100652770 EXON Missense_R773K,Silent exm1381249 18 29125936 [A/C] NM_001943,NR_045216 DSG2,LOC100652770 EXON Missense_M863L,Silent exm1381251 18 29125996 [T/C] NM_001943,NR_045216 DSG2,LOC100652770 EXON Missense_S883P,Silent exm1381254 18 29126057 [T/C] NM_001943,NR_045216 DSG2,LOC100652770 EXON Missense_T903I,Silent exm1381259 18 29126108 [T/G] NM_001943,NR_045216 DSG2,LOC100652770 EXON Missense_V920G,Silent exm1381262 18 29126235 [T/G] NM_001943,NR_045216 DSG2,LOC100652770 EXON Missense_I962M,Silent exm1381268 18 29126431 [A/G] NM_001943,NR_045216 DSG2,LOC100652770 EXON Missense_G1028S,Silent exm1911491 18 29126467 [A/G] NM_001943,NR_045216 DSG2,LOC100652770 EXON Missense_V1040I,Silent exm1381271 18 29126558 [T/C] NM_001943,NR_045216 DSG2,LOC100652770 EXON Missense_T1070M,Silent exm1381276 18 29126615 [A/G] NM_001943,NR_045216 DSG2,LOC100652770 EXON Missense_G1089D,Silent exm1381277 18 29126630 [T/G] NM_001943,NR_045216 DSG2,LOC100652770 EXON Missense_G1094V,Silent exm1381278 18 29126632 [A/C] NM_001943,NR_045216 DSG2,LOC100652770 EXON Missense_H1095N,Silent exm1381279 18 29126644 [A/G] NM_001943,NR_045216 DSG2,LOC100652770 EXON Missense_T1099A,Silent exm2253391 18 29126670 [T/C] NM_001943,NR_045216 DSG2,LOC100652770 EXON Synonymous_V1107V,Silent exm1381285 18 29171879 [A/G] NM_000371 TTR EXON Missense_R5H exm1381286 18 29172865 [A/G] NM_000371 TTR EXON Missense_G26S exm1381290 18 29172979 [T/C] NM_000371 TTR EXON Missense_F64L exm1381294 18 29175210 [A/C] NM_000371 TTR EXON Missense_H110N exm1911516 18 29178565 [A/G] NM_000371 TTR EXON Missense_R124H exm1381302 18 29178610 [T/C] NM_000371 TTR EXON Missense_T139M exm1381303 18 29178618 [A/G] NM_000371 TTR EXON Missense_V142I exm1381305 18 29205591 [T/C] NM_004775 B4GALT6 EXON Missense_I379V exm1381327 18 29218693 [A/G] NM_004775 B4GALT6 EXON Missense_H168Y exm1381331 18 29225371 [T/C] NM_004775 B4GALT6 EXON Missense_D140N exm1381332 18 29225387 [A/G] NM_004775 B4GALT6 EXON Synonymous_L134L exm2253392 18 29225387 [A/G] NM_004775 B4GALT6 EXON Synonymous_L134L exm1381339 18 29237995 [A/G] NM_004775 B4GALT6 EXON Missense_P97L exm1381344 18 29264296 [T/C] NM_004775 B4GALT6 EXON Missense_I32V exm-rs10438933 18 29273129 [A/G] exm2268142 18 29300708 [A/G] exm2268088 18 29311034 [A/G] exm1381352 18 29339765 [T/C] NM_001034172 SLC25A52 EXON Missense_N297S exm1381392 18 29410750 [T/C] NM_014939 TRAPPC8 EXON Missense_M1426V exm1381395 18 29410801 [A/C] NM_014939 TRAPPC8 EXON Missense_A1409S exm1381396 18 29410851 [C/G] NM_014939 TRAPPC8 EXON Missense_A1392G exm1381398 18 29410900 [A/G] NM_014939 TRAPPC8 EXON Missense_Y1376H exm1381402 18 29412105 [A/C] NM_014939 TRAPPC8 EXON Missense_S1339A exm1381403 18 29419309 [A/G] NM_014939 TRAPPC8 EXON Missense_P1317S exm1381413 18 29426714 [T/C] NM_014939 TRAPPC8 EXON Missense_I1268V exm1381414 18 29426719 [T/C] NM_014939 TRAPPC8 EXON Missense_R1266H exm1381415 18 29426726 [T/C] NM_014939 TRAPPC8 EXON Missense_I1264V exm2227754 18 29426774 [T/C] NM_014939 TRAPPC8 EXON Missense_V1248I exm1381420 18 29429596 [G/C] NM_014939 TRAPPC8 EXON Missense_T1223R exm1381421 18 29429633 [C/G] NM_014939 TRAPPC8 EXON Missense_Q1211E exm1381422 18 29429662 [T/C] NM_014939 TRAPPC8 EXON Missense_R1201Q exm1381424 18 29429699 [T/C] NM_014939 TRAPPC8 EXON Missense_I1189V exm1381426 18 29432428 [A/G] NM_014939 TRAPPC8 EXON Missense_I1181T exm1911625 18 29432443 [T/C] NM_014939 TRAPPC8 EXON Missense_Y1176C exm1381427 18 29432444 [A/G] NM_014939 TRAPPC8 EXON Missense_Y1176H exm1381429 18 29432624 [T/C] NM_014939 TRAPPC8 EXON Missense_T1146A exm1381432 18 29433881 [T/C] NM_014939 TRAPPC8 EXON Missense_I1122V exm1381436 18 29435668 [T/A] NM_014939 TRAPPC8 EXON Missense_R1097S exm1381439 18 29435762 [A/G] NM_014939 TRAPPC8 EXON Missense_I1066T exm1381446 18 29437668 [A/G] NM_014939 TRAPPC8 EXON Missense_T1008I exm1381462 18 29446850 [G/C] NM_014939 TRAPPC8 EXON Missense_T851R exm1381465 18 29447411 [A/G] NM_014939 TRAPPC8 EXON Missense_A806V exm1381476 18 29450901 [T/C] NM_014939 TRAPPC8 EXON Missense_A749T exm1381478 18 29450933 [T/G] NM_014939 TRAPPC8 EXON Missense_N738T exm1381479 18 29450945 [T/C] NM_014939 TRAPPC8 EXON Missense_Q734R exm1911645 18 29450958 [T/A] NM_014939 TRAPPC8 EXON Missense_F730I exm1381480 18 29450960 [T/C] NM_014939 TRAPPC8 EXON Missense_N729S exm1381483 18 29450985 [T/C] NM_014939 TRAPPC8 EXON Missense_V721I exm1381486 18 29451024 [G/C] NM_014939 TRAPPC8 EXON Missense_Q708E exm2227758 18 29453491 [T/C] NM_014939 TRAPPC8 EXON Missense_Q655R exm1381499 18 29454570 [T/C] NM_014939 TRAPPC8 EXON Missense_R609H exm1381518 18 29487446 [T/C] NM_014939 TRAPPC8 EXON Missense_M456V exm1381532 18 29489663 [C/G] NM_014939 TRAPPC8 EXON Missense_L278V exm1381534 18 29489704 [A/G] NM_014939 TRAPPC8 EXON Missense_P264L exm1381535 18 29489705 [T/G] NM_014939 TRAPPC8 EXON Missense_P264T exm1381548 18 29497573 [A/G] NM_014939 TRAPPC8 EXON Missense_L137S exm1381557 18 29511423 [T/C] NM_014939 TRAPPC8 EXON Missense_N74S exm1381580 18 29617167 [T/C] NM_017831 RNF125 EXON Missense_P85S exm1381585 18 29622191 [T/C] NM_017831 RNF125 EXON Missense_I123T exm1381590 18 29625684 [T/C] NM_017831 RNF125 EXON Missense_R165W exm1381591 18 29625685 [A/G] NM_017831 RNF125 EXON Missense_R165Q exm1381595 18 29645930 [A/T] NM_017831 RNF125 EXON Missense_R190S exm1381604 18 29672748 [C/G] NM_016271,NM_001191324,NM_198128 RNF138,RNF138,RNF138 EXON Missense_E3D,Missense_E3D,Missense_E3D exm1381612 18 29691848 [A/G] NM_016271,NM_001191324,NM_198128 RNF138,RNF138,RNF138 EXON Missense_K81R,Missense_K81R,Silent exm2253393 18 29727583 [A/G] exm1381636 18 29782888 [T/C] NM_005925 MEP1B EXON Missense_F95L exm1381637 18 29782894 [T/C] NM_005925 MEP1B EXON Missense_R97C exm1381640 18 29782926 [T/G] NM_005925 MEP1B EXON Missense_K107N exm1381641 18 29782943 [G/C] NM_005925 MEP1B EXON Missense_T113R exm1381643 18 29782953 [A/G] NM_005925 MEP1B EXON Missense_I116M exm1381647 18 29784170 [T/C] NM_005925 MEP1B EXON Missense_R132W exm1381648 18 29784171 [A/G] NM_005925 MEP1B EXON Missense_R132Q exm1381651 18 29784212 [T/C] NM_005925 MEP1B EXON Nonsense_R146X exm1381657 18 29784293 [A/G] NM_005925 MEP1B EXON Missense_V173I exm1381670 18 29788157 [A/C] NM_005925 MEP1B EXON Missense_D281A exm1381671 18 29788170 [A/G] NM_005925 MEP1B EXON Nonsense_W285X exm1381676 18 29790520 [A/G] NM_005925 MEP1B EXON Missense_V326M exm1381682 18 29793100 [A/G] NM_005925 MEP1B EXON Missense_Q386R exm1381684 18 29793156 [T/C] NM_005925 MEP1B EXON Missense_R405C exm1381690 18 29793239 [A/G] NM_005925 MEP1B EXON Nonsense_W432X exm1381691 18 29793288 [T/C] NM_005925 MEP1B EXON Missense_Y449H exm1381692 18 29793346 [T/C] NM_005925 MEP1B EXON Missense_A468V exm1381701 18 29793468 [T/C] NM_005925 MEP1B EXON Nonsense_R509X exm1911743 18 29793475 [A/G] NM_005925 MEP1B EXON Missense_R511H exm1381707 18 29795101 [T/C] NM_005925 MEP1B EXON Missense_S546P exm2275002 18 29795177 [A/G] NM_005925 MEP1B EXON Missense_R571K exm1381713 18 29797043 [A/G] NM_005925 MEP1B EXON Missense_G617S exm1381714 18 29797059 [A/G] NM_005925 MEP1B EXON Missense_R622Q exm1381723 18 29797921 [T/C] NM_005925 MEP1B EXON Missense_P695L exm1381732 18 29848028 [T/C] NM_001242409,NM_022751 GAREM,GAREM EXON Missense_I813V,Missense_I812V exm2275003 18 29848306 [A/G] NM_001242409,NM_022751 GAREM,GAREM EXON Missense_T720M,Missense_T719M exm1381751 18 29848357 [A/C] NM_001242409,NM_022751 GAREM,GAREM EXON Missense_L703R,Missense_L702R exm1381753 18 29848391 [T/C] NM_001242409,NM_022751 GAREM,GAREM EXON Missense_V692I,Missense_V691I exm1381757 18 29848493 [A/G] NM_001242409,NM_022751 GAREM,GAREM EXON Missense_P658S,Missense_P657S exm1381758 18 29848579 [T/C] NM_001242409,NM_022751 GAREM,GAREM EXON Missense_H629R,Missense_H628R exm1381762 18 29848633 [A/G] NM_001242409,NM_022751 GAREM,GAREM EXON Missense_P611L,Missense_P610L exm1381768 18 29848699 [T/G] NM_001242409,NM_022751 GAREM,GAREM EXON Missense_E589A,Missense_E588A exm1381769 18 29848702 [G/C] NM_001242409,NM_022751 GAREM,GAREM EXON Missense_S588C,Missense_S587C exm1381771 18 29848727 [T/C] NM_001242409,NM_022751 GAREM,GAREM EXON Missense_V580I,Missense_V579I exm1381772 18 29850241 [A/G] NM_001242409,NM_022751 GAREM,GAREM EXON Missense_R558W,Missense_R558W exm1381778 18 29866994 [A/G] NM_001242409,NM_022751 GAREM,GAREM EXON Synonymous_A522A,Synonymous_A522A exm1381782 18 29867091 [A/G] NM_001242409,NM_022751 GAREM,GAREM EXON Missense_A490V,Missense_A490V exm1381785 18 29867140 [T/C] NM_001242409,NM_022751 GAREM,GAREM EXON Missense_E474K,Missense_E474K exm1381790 18 29867223 [A/G] NM_001242409,NM_022751 GAREM,GAREM EXON Missense_P446L,Missense_P446L exm1381804 18 29867517 [A/G] NM_001242409,NM_022751 GAREM,GAREM EXON Missense_T348I,Missense_T348I exm1381806 18 29867557 [T/C] NM_001242409,NM_022751 GAREM,GAREM EXON Missense_D335N,Missense_D335N exm1381811 18 29867688 [T/C] NM_001242409,NM_022751 GAREM,GAREM EXON Missense_K291R,Missense_K291R exm1381815 18 29867792 [T/C] NM_001242409,NM_022751 GAREM,GAREM EXON Synonymous_P256P,Synonymous_P256P exm2253394 18 29867792 [T/C] NM_001242409,NM_022751 GAREM,GAREM EXON Synonymous_P256P,Synonymous_P256P exm1381826 18 29890163 [T/C] NM_001242409,NM_022751 GAREM,GAREM EXON Missense_N129S,Missense_N129S exm2275004 18 29890229 [T/C] NM_001242409,NM_022751 GAREM,GAREM EXON Missense_N107S,Missense_N107S exm1911780 18 29972993 [A/G] NM_001242409,NM_022751 GAREM,GAREM EXON Missense_C43R,Missense_C43R exm2264660 18 30114188 [A/C] exm1381849 18 30254666 [A/G] NM_020805 KLHL14 EXON Missense_A614V exm1381854 18 30257258 [A/G] NM_020805 KLHL14 EXON Missense_Y542H exm1381875 18 30322011 [T/C] NM_020805 KLHL14 EXON Missense_I317V exm1381884 18 30349835 [C/G] NM_020805 KLHL14 EXON Missense_Q240H exm1381888 18 30349856 [G/C] NM_020805 KLHL14 EXON Missense_E233D exm1381890 18 30349869 [G/C] NM_020805 KLHL14 EXON Missense_P229R exm1381922 18 30350448 [A/G] NM_020805 KLHL14 EXON Missense_T36I exm2268143 18 30458250 [A/G] exm1381928 18 30517995 [T/C] NM_001105528,NM_198995 CCDC178,CCDC178 EXON Missense_T862A,Missense_T824A exm1381931 18 30554575 [T/C] NM_001105528,NM_198995 CCDC178,CCDC178 EXON Missense_Q820R,Missense_Q782R exm2268090 18 30640189 [A/G] NM_001105528,NM_198995 CCDC178,CCDC178 Silent,Silent exm1911822 18 30672840 [A/C] NM_001105528,NM_198995 CCDC178,CCDC178 EXON Missense_R758L,Missense_R720L exm1381943 18 30791889 [C/G] NM_001105528,NM_198995 CCDC178,CCDC178 EXON Missense_V737L,Missense_V699L exm1381944 18 30791963 [T/C] NM_001105528,NM_198995 CCDC178,CCDC178 EXON Missense_H712R,Missense_H674R exm1381945 18 30791983 [A/C] NM_001105528,NM_198995 CCDC178,CCDC178 EXON Missense_H705Q,Missense_H667Q exm1381948 18 30795529 [A/G] NM_001105528,NM_198995 CCDC178,CCDC178 EXON Missense_T688I,Missense_T650I exm1381953 18 30795592 [A/T] NM_001105528,NM_198995 CCDC178,CCDC178 EXON Missense_K667I,Missense_K629I exm1381960 18 30803075 [T/A] NM_001105528,NM_198995 CCDC178,CCDC178 EXON Missense_T643S,Silent exm1381961 18 30803113 [T/C] NM_001105528,NM_198995 CCDC178,CCDC178 EXON Missense_R630Q,Silent exm1381962 18 30803132 [T/C] NM_001105528,NM_198995 CCDC178,CCDC178 EXON Missense_K624E,Silent exm1381964 18 30804756 [T/C] NM_001105528,NM_198995 CCDC178,CCDC178 EXON Missense_D601N,Missense_D601N exm1381965 18 30804758 [A/C] NM_001105528,NM_198995 CCDC178,CCDC178 EXON Missense_L600R,Missense_L600R exm1381968 18 30804839 [G/C] NM_001105528,NM_198995 CCDC178,CCDC178 EXON Missense_R573T,Missense_R573T exm1381987 18 30825388 [A/G] NM_001105528,NM_198995 CCDC178,CCDC178 EXON Missense_R472W,Missense_R472W exm1381991 18 30846895 [A/T] NM_001105528,NM_198995 CCDC178,CCDC178 EXON Missense_V465E,Missense_V465E exm1381998 18 30847180 [T/C] NM_001105528,NM_198995 CCDC178,CCDC178 EXON Missense_D420N,Missense_D420N exm1382007 18 30903467 [A/G] NM_001105528,NM_198995 CCDC178,CCDC178 EXON Missense_I337T,Missense_I337T exm1382011 18 30903593 [A/G] NM_001105528,NM_198995 CCDC178,CCDC178 EXON Missense_M295T,Missense_M295T exm2268144 18 30941974 [A/G] NM_001105528,NM_198995 CCDC178,CCDC178 Silent,Silent exm1382040 18 30950014 [T/C] NM_001105528,NM_198995 CCDC178,CCDC178 EXON Synonymous_R116R,Synonymous_R116R exm1382049 18 30969567 [T/G] NM_001105528,NM_198995 CCDC178,CCDC178 EXON Missense_L49I,Missense_L49I exm1382051 18 30969588 [T/C] NM_001105528,NM_198995 CCDC178,CCDC178 EXON Missense_A42T,Missense_A42T exm1382052 18 30969593 [T/C] NM_001105528,NM_198995 CCDC178,CCDC178 EXON Missense_G40D,Missense_G40D exm1382088 18 31187565 [A/G] NM_030632 ASXL3 EXON Missense_E21G exm1382100 18 31250673 [T/C] NM_030632 ASXL3 EXON Missense_S172P exm1911917 18 31251740 [A/G] NM_030632 ASXL3 EXON Missense_S209G exm1382120 18 31318777 [A/C] NM_030632 ASXL3 EXON Missense_H470P exm1382122 18 31318822 [A/G] NM_030632 ASXL3 EXON Missense_N485S exm1382126 18 31318959 [A/G] NM_030632 ASXL3 EXON Missense_T531A exm1382137 18 31319101 [T/C] NM_030632 ASXL3 EXON Missense_S578F exm1382147 18 31319293 [T/C] NM_030632 ASXL3 EXON Missense_P642L exm1382149 18 31319325 [A/G] NM_030632 ASXL3 EXON Missense_V653I exm1382151 18 31319341 [A/T] NM_030632 ASXL3 EXON Missense_N658I exm2253399 18 31319825 [T/C] NM_030632 ASXL3 EXON Synonymous_A819A exm1382174 18 31319905 [A/G] NM_030632 ASXL3 EXON Missense_K846R exm1382177 18 31319947 [A/T] NM_030632 ASXL3 EXON Missense_M860K exm1382180 18 31320069 [A/G] NM_030632 ASXL3 EXON Missense_K901E exm1382181 18 31320099 [A/G] NM_030632 ASXL3 EXON Missense_V911M exm2227773 18 31320155 [T/A] NM_030632 ASXL3 EXON Missense_S929R exm1382184 18 31320229 [A/G] NM_030632 ASXL3 EXON Missense_N954S exm1382187 18 31320333 [G/C] NM_030632 ASXL3 EXON Missense_R989G exm1382192 18 31322936 [T/C] NM_030632 ASXL3 EXON Missense_S1042P exm1382204 18 31323201 [G/C] NM_030632 ASXL3 EXON Missense_P1130R exm1382205 18 31323203 [T/C] NM_030632 ASXL3 EXON Missense_P1131S exm1382206 18 31323231 [A/C] NM_030632 ASXL3 EXON Missense_P1140Q exm1382217 18 31323701 [T/C] NM_030632 ASXL3 EXON Missense_P1297S exm1382219 18 31323741 [A/C] NM_030632 ASXL3 EXON Missense_E1310A exm1911952 18 31323823 [A/G] NM_030632 ASXL3 EXON Synonymous_Q1337Q exm1382222 18 31323848 [A/G] NM_030632 ASXL3 EXON Missense_I1346V exm1382235 18 31324056 [T/G] NM_030632 ASXL3 EXON Missense_M1415R exm1382245 18 31324343 [G/C] NM_030632 ASXL3 EXON Missense_V1511L exm1382259 18 31324629 [A/G] NM_030632 ASXL3 EXON Missense_R1606Q exm1382260 18 31324657 [T/G] NM_030632 ASXL3 EXON Missense_R1615S exm1382263 18 31324766 [A/G] NM_030632 ASXL3 EXON Missense_V1652M exm1382265 18 31324814 [A/G] NM_030632 ASXL3 EXON Missense_V1668M exm1382269 18 31324934 [A/G] NM_030632 ASXL3 EXON Missense_M1708V exm1382270 18 31324985 [A/G] NM_030632 ASXL3 EXON Missense_D1725N exm1911968 18 31325175 [A/G] NM_030632 ASXL3 EXON Missense_G1788D exm1382283 18 31325525 [A/G] NM_030632 ASXL3 EXON Missense_S1905G exm1382306 18 31326012 [T/G] NM_030632 ASXL3 EXON Missense_L2067R exm1382311 18 31326158 [A/G] NM_030632 ASXL3 EXON Missense_A2116T exm1382313 18 31326171 [T/C] NM_030632 ASXL3 EXON Missense_A2120V exm2272656 18 31328519 [T/C] exm-rs1013696 18 31420010 [T/C] exm1382332 18 31432966 [A/G] NM_001198546,NM_003787,NR_036752,NM_001198549,NM_001198547,NM_001198548 NOL4,NOL4,NOL4,NOL4,NOL4,NOL4 EXON Missense_A522V,Missense_A586V,Silent,Missense_A301V,Missense_A512V,Missense_A484V exm1382343 18 31523058 [T/C] NM_001198546,NM_003787,NR_036752,NM_001198549,NM_001198547,NM_001198548 NOL4,NOL4,NOL4,NOL4,NOL4,NOL4 EXON Missense_A441T,Missense_A505T,Silent,Missense_A220T,Missense_A431T,Silent exm-rs7239368 18 31645379 [A/G] NM_001198546,NM_003787,NR_036752,NM_001198547,NM_001198548 NOL4,NOL4,NOL4,NOL4,NOL4 Silent,Silent,Silent,Silent,Silent exm2268091 18 31763797 [A/G] NM_001198546,NM_003787,NR_036752,NM_001198547,NM_001198548 NOL4,NOL4,NOL4,NOL4,NOL4 Silent,Silent,Silent,Silent,Silent exm2268145 18 31926289 [A/G] exm1382391 18 32345949 [A/G] NM_032979,NM_001198945,NM_001392,NM_032975,NM_001198939,NM_001128175,NM_001198940,NM_001198938,NM_032978,NM_001198941,NM_001391,NM_001390 DTNA,DTNA,DTNA,DTNA,DTNA,DTNA,DTNA,DTNA,DTNA,DTNA,DTNA,DTNA EXON Missense_R31Q,Missense_R31Q,Missense_R31Q,Missense_R31Q,Missense_R31Q,Missense_R31Q,Missense_R31Q,Missense_R31Q,Missense_R31Q,Missense_R31Q,Missense_R31Q,Missense_R31Q exm1382404 18 32374168 [G/C] NM_032979,NM_001198945,NM_001392,NM_032975,NM_001198939,NM_001128175,NM_001198940,NM_001198938,NM_032978,NM_001198941,NM_001391,NM_001390 DTNA,DTNA,DTNA,DTNA,DTNA,DTNA,DTNA,DTNA,DTNA,DTNA,DTNA,DTNA EXON Missense_Q106E,Missense_Q106E,Missense_Q106E,Missense_Q106E,Missense_Q106E,Missense_Q106E,Missense_Q106E,Missense_Q106E,Missense_Q106E,Missense_Q106E,Missense_Q106E,Missense_Q106E exm1382407 18 32386191 [A/G] NM_032979,NM_001198945,NM_001392,NM_032975,NM_001198939,NM_001128175,NM_001198940,NM_001198938,NM_032978,NM_001198941,NM_001391,NM_001390 DTNA,DTNA,DTNA,DTNA,DTNA,DTNA,DTNA,DTNA,DTNA,DTNA,DTNA,DTNA EXON Missense_H124R,Missense_H124R,Missense_H124R,Missense_H124R,Missense_H124R,Missense_H124R,Missense_H124R,Missense_H124R,Missense_H124R,Missense_H124R,Missense_H124R,Missense_H124R exm1912092 18 32391950 [A/G] NM_032979,NM_001198945,NM_001392,NM_032975,NM_001198939,NM_001128175,NM_001198940,NM_001198938,NM_032978,NM_001198941,NM_001391,NM_001390 DTNA,DTNA,DTNA,DTNA,DTNA,DTNA,DTNA,DTNA,DTNA,DTNA,DTNA,DTNA EXON Missense_S159N,Missense_S159N,Missense_S159N,Missense_S159N,Missense_S159N,Missense_S159N,Missense_S159N,Missense_S159N,Missense_S159N,Missense_S159N,Missense_S159N,Missense_S159N exm1382410 18 32391956 [T/C] NM_032979,NM_001198945,NM_001392,NM_032975,NM_001198939,NM_001128175,NM_001198940,NM_001198938,NM_032978,NM_001198941,NM_001391,NM_001390 DTNA,DTNA,DTNA,DTNA,DTNA,DTNA,DTNA,DTNA,DTNA,DTNA,DTNA,DTNA EXON Missense_V161A,Missense_V161A,Missense_V161A,Missense_V161A,Missense_V161A,Missense_V161A,Missense_V161A,Missense_V161A,Missense_V161A,Missense_V161A,Missense_V161A,Missense_V161A exm1382412 18 32395883 [T/C] NM_032979,NM_001198945,NM_001392,NM_032975,NM_001198939,NM_001128175,NM_001198940,NM_001198938,NM_032978,NM_001198941,NM_001391,NM_001390 DTNA,DTNA,DTNA,DTNA,DTNA,DTNA,DTNA,DTNA,DTNA,DTNA,DTNA,DTNA EXON Missense_T205M,Silent,Missense_T205M,Missense_T205M,Missense_T205M,Missense_T205M,Missense_T205M,Missense_T205M,Missense_T205M,Missense_T205M,Missense_T205M,Missense_T205M exm1382420 18 32400833 [A/G] NM_032979,NM_001198945,NM_001392,NM_032975,NM_001198939,NM_001128175,NM_001198940,NM_001198938,NM_032978,NM_001198941,NM_001391,NM_001390,NM_001198943,NM_001198942,NM_001198944,NM_032981,NM_032980 DTNA,DTNA,DTNA,DTNA,DTNA,DTNA,DTNA,DTNA,DTNA,DTNA,DTNA,DTNA,DTNA,DTNA,DTNA,DTNA,DTNA EXON Missense_M319V,Silent,Missense_M319V,Missense_M319V,Missense_M319V,Missense_M319V,Missense_M319V,Missense_M319V,Missense_M319V,Missense_M319V,Missense_M319V,Missense_M319V,Missense_M69V,Missense_M1V,Missense_M1V,Missense_M1V,Missense_M1V exm1382436 18 32418752 [T/C] NM_032979,NM_001198945,NM_032975,NM_001198939,NM_001198940,NM_001198938,NM_032978,NM_001198941,NM_001391,NM_001390,NM_001198943,NM_001198942,NM_001198944,NM_032981,NM_032980 DTNA,DTNA,DTNA,DTNA,DTNA,DTNA,DTNA,DTNA,DTNA,DTNA,DTNA,DTNA,DTNA,DTNA,DTNA EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_H403Y,Silent,Missense_H406Y,Missense_H406Y,Silent,Missense_H115Y,Silent,Silent,Silent exm1382446 18 32431798 [A/C] NM_032979,NM_001198945,NM_032975,NM_001198939,NM_001198940,NM_001198938,NM_032978,NM_001198941,NM_001391,NM_001390,NM_001198943,NM_001198942,NM_001198944,NM_032981,NM_032980 DTNA,DTNA,DTNA,DTNA,DTNA,DTNA,DTNA,DTNA,DTNA,DTNA,DTNA,DTNA,DTNA,DTNA,DTNA EXON Missense_P396T,Missense_P203T,Missense_P396T,Missense_P393T,Missense_P393T,Missense_P393T,Missense_P450T,Missense_P393T,Missense_P453T,Missense_P453T,Missense_P143T,Missense_P162T,Missense_P105T,Missense_P75T,Missense_P101T exm1912119 18 32431814 [C/G] NM_032979,NM_001198945,NM_032975,NM_001198939,NM_001198940,NM_001198938,NM_032978,NM_001198941,NM_001391,NM_001390,NM_001198943,NM_001198942,NM_001198944,NM_032981,NM_032980 DTNA,DTNA,DTNA,DTNA,DTNA,DTNA,DTNA,DTNA,DTNA,DTNA,DTNA,DTNA,DTNA,DTNA,DTNA EXON Missense_S401T,Missense_S208T,Missense_S401T,Missense_S398T,Missense_S398T,Missense_S398T,Missense_S455T,Missense_S398T,Missense_S458T,Missense_S458T,Missense_S148T,Missense_S167T,Missense_S110T,Missense_S80T,Missense_S106T exm1382449 18 32431840 [A/G] NM_032979,NM_001198945,NM_032975,NM_001198939,NM_001198940,NM_001198938,NM_032978,NM_001198941,NM_001391,NM_001390,NM_001198943,NM_001198942,NM_001198944,NM_032981,NM_032980 DTNA,DTNA,DTNA,DTNA,DTNA,DTNA,DTNA,DTNA,DTNA,DTNA,DTNA,DTNA,DTNA,DTNA,DTNA EXON Missense_D410N,Missense_D217N,Missense_D410N,Missense_D407N,Missense_D407N,Missense_D407N,Missense_D464N,Missense_D407N,Missense_D467N,Missense_D467N,Missense_D157N,Missense_D176N,Missense_D119N,Missense_D89N,Missense_D115N exm1382452 18 32438308 [T/C] NM_032979,NM_001198945,NM_032975,NM_001198939,NM_001198940,NM_001198938,NM_032978,NM_001198941,NM_001391,NM_001390,NM_001198943,NM_001198942,NM_001198944,NM_032981,NM_032980 DTNA,DTNA,DTNA,DTNA,DTNA,DTNA,DTNA,DTNA,DTNA,DTNA,DTNA,DTNA,DTNA,DTNA,DTNA EXON Missense_T447M,Missense_T254M,Missense_T447M,Missense_T444M,Missense_T444M,Missense_T444M,Missense_T501M,Missense_T444M,Missense_T504M,Missense_T504M,Missense_T194M,Missense_T213M,Missense_T156M,Missense_T126M,Missense_T152M exm1382455 18 32443935 [A/G] NM_032979,NM_001198945,NM_032975,NM_001198939,NM_001198940,NM_001198938,NM_032978,NM_001198941,NM_001391,NM_001390,NM_001198943,NM_001198942,NM_001198944,NM_032981,NM_032980 DTNA,DTNA,DTNA,DTNA,DTNA,DTNA,DTNA,DTNA,DTNA,DTNA,DTNA,DTNA,DTNA,DTNA,DTNA EXON Missense_R467H,Missense_R274H,Missense_R467H,Missense_R464H,Missense_R464H,Missense_R464H,Missense_R521H,Missense_R464H,Missense_R524H,Missense_R524H,Missense_R214H,Missense_R233H,Missense_R176H,Missense_R146H,Missense_R172H exm1382469 18 32455297 [T/C] NM_032975,NM_001198939,NM_001198940,NM_001198938,NM_001390,NM_001198943,NM_001198942,NM_001198944,NM_032980 DTNA,DTNA,DTNA,DTNA,DTNA,DTNA,DTNA,DTNA,DTNA EXON Missense_P529L,Missense_P533L,Missense_P526L,Missense_P526L,Missense_P586L,Missense_P276L,Missense_P295L,Missense_P238L,Missense_P234L exm1382470 18 32455306 [T/C] NM_032975,NM_001198939,NM_001198940,NM_001198938,NM_001390,NM_001198943,NM_001198942,NM_001198944,NM_032980 DTNA,DTNA,DTNA,DTNA,DTNA,DTNA,DTNA,DTNA,DTNA EXON Missense_T532M,Missense_T536M,Missense_T529M,Missense_T529M,Missense_T589M,Missense_T279M,Missense_T298M,Missense_T241M,Missense_T237M exm1382481 18 32459560 [A/G] NM_032975,NM_001198939,NM_001198940,NM_001198938,NM_001390,NM_001198943,NM_001198942,NM_001198944,NM_032980 DTNA,DTNA,DTNA,DTNA,DTNA,DTNA,DTNA,DTNA,DTNA EXON Missense_R596Q,Missense_R600Q,Missense_R593Q,Missense_R593Q,Missense_R653Q,Missense_R343Q,Missense_R362Q,Missense_R305Q,Missense_R301Q exm1382484 18 32459629 [A/G] NM_032975,NM_001198939,NM_001198940,NM_001198938,NM_001390,NM_001198943,NM_001198942,NM_001198944,NM_032980 DTNA,DTNA,DTNA,DTNA,DTNA,DTNA,DTNA,DTNA,DTNA EXON Missense_R619Q,Missense_R623Q,Missense_R616Q,Missense_R616Q,Missense_R676Q,Missense_R366Q,Missense_R385Q,Missense_R328Q,Missense_R324Q exm1382497 18 32470291 [A/G] NM_032975,NM_001198939,NM_001198940,NM_001198938,NM_001390,NM_001198943,NM_001198942,NM_001198944,NM_032980 DTNA,DTNA,DTNA,DTNA,DTNA,DTNA,DTNA,DTNA,DTNA EXON Silent,Silent,Silent,Missense_E688K,Silent,Silent,Silent,Silent,Silent exm2272658 18 32815683 [T/C] exm1382531 18 32822472 [A/C] NM_001135178,NM_032347 ZNF397,ZNF397 EXON Missense_P13H,Missense_P13H exm1382538 18 32822589 [A/G] NM_001135178,NM_032347 ZNF397,ZNF397 EXON Missense_Q52R,Missense_Q52R exm1382542 18 32822643 [A/G] NM_001135178,NM_032347 ZNF397,ZNF397 EXON Missense_R70Q,Missense_R70Q exm1382579 18 32833479 [A/G] NM_032347,NM_001166012,NM_001112734 ZNF397,ZSCAN30,ZSCAN30 EXON Silent,Missense_C474R,Missense_C474R exm1382594 18 32833766 [A/C] NM_032347,NM_001166012,NM_001112734 ZNF397,ZSCAN30,ZSCAN30 EXON Silent,Missense_I378S,Missense_I378S exm1382596 18 32833827 [C/G] NM_032347,NM_001166012,NM_001112734 ZNF397,ZSCAN30,ZSCAN30 EXON Silent,Missense_E358Q,Missense_E358Q exm1382606 18 32834186 [T/G] NM_032347,NM_001166012,NM_001112734 ZNF397,ZSCAN30,ZSCAN30 EXON Silent,Missense_Q238P,Missense_Q238P exm1382608 18 32834225 [A/G] NM_032347,NM_001166012,NM_001112734 ZNF397,ZSCAN30,ZSCAN30 EXON Missense_A226T,Missense_A225V,Missense_A225V exm1382609 18 32834232 [A/G] NM_032347,NM_001166012,NM_001112734 ZNF397,ZSCAN30,ZSCAN30 EXON Missense_R228H,Missense_R223W,Missense_R223W exm1382619 18 32834361 [C/G] NM_032347,NM_001166012,NM_001112734 ZNF397,ZSCAN30,ZSCAN30 EXON Missense_R271T,Silent,Silent exm1382627 18 32843952 [A/G] NM_001166012,NM_001112734 ZSCAN30,ZSCAN30 EXON Missense_M122T,Missense_M122T exm1382629 18 32843992 [A/G] NM_001166012,NM_001112734 ZSCAN30,ZSCAN30 EXON Nonsense_R109X,Nonsense_R109X exm2227791 18 32844108 [T/C] NM_001166012,NM_001112734 ZSCAN30,ZSCAN30 EXON Missense_R70Q,Missense_R70Q exm1382635 18 32844197 [G/C] NM_001166012,NM_001112734 ZSCAN30,ZSCAN30 EXON Missense_N40K,Missense_N40K exm2253405 18 32917274 [T/C] NM_006965 ZNF24 EXON Synonymous_S343S exm1382693 18 32917570 [A/G] NM_006965 ZNF24 EXON Missense_P245S exm1382694 18 32917593 [A/C] NM_006965 ZNF24 EXON Missense_G237V exm1382696 18 32917644 [T/C] NM_006965 ZNF24 EXON Missense_N220S exm1382700 18 32919882 [T/G] NM_006965 ZNF24 EXON Missense_E160A exm1912211 18 32919934 [A/G] NM_006965 ZNF24 EXON Missense_L143F exm1382707 18 32920361 [A/G] NM_006965 ZNF24 EXON Missense_T85M exm1382721 18 32949282 [A/G] NM_145756 ZNF396 EXON Missense_T302I exm2227795 18 32949292 [A/G] NM_145756 ZNF396 EXON Nonsense_R299X exm1382722 18 32949300 [T/C] NM_145756 ZNF396 EXON Missense_Q296R exm1382769 18 33048642 [T/C] NM_194281,NM_001098817 INO80C,INO80C EXON Missense_R171Q,Missense_R207Q exm1382787 18 33060526 [T/C] NM_194281,NM_001098817 INO80C,INO80C EXON Missense_G53D,Missense_G89D exm1382801 18 33077807 [C/G] NM_194281,NM_001098817 INO80C,INO80C EXON Missense_T11S,Missense_T11S exm2272659 18 33083546 [T/C] exm1382809 18 33234684 [T/G] NM_020474 GALNT1 EXON Missense_L20V exm1912249 18 33234763 [A/G] NM_020474 GALNT1 EXON Missense_D46G exm1382811 18 33243613 [T/C] NM_020474 GALNT1 EXON Missense_P54L exm1382814 18 33243665 [T/G] NM_020474 GALNT1 EXON Missense_D71E exm1382844 18 33289676 [A/G] NM_020474 GALNT1 EXON Missense_N541S exm1382866 18 33552862 [C/G] NM_031446,NM_001201475,NM_001201476,NM_001201474 C18orf21,C18orf21,C18orf21,C18orf21 EXON Missense_S31W,Silent,Missense_S31W,Silent exm1912284 18 33554981 [T/C] NM_031446,NM_001201475,NM_001201476,NM_001201474 C18orf21,C18orf21,C18orf21,C18orf21 EXON Nonsense_R75X,Silent,Nonsense_R75X,Silent exm1382877 18 33557466 [A/G] NM_031446,NM_001201475,NM_001201476,NM_001201474 C18orf21,C18orf21,C18orf21,C18orf21 EXON Missense_T132A,Missense_T44A,Silent,Missense_T44A exm1382878 18 33557490 [T/C] NM_031446,NM_001201475,NM_001201476,NM_001201474 C18orf21,C18orf21,C18orf21,C18orf21 EXON Missense_P140S,Missense_P52S,Silent,Missense_P52S exm1912291 18 33558805 [A/G] NM_031446,NM_001201475,NM_001201476,NM_001201474 C18orf21,C18orf21,C18orf21,C18orf21 EXON Missense_T167A,Missense_T79A,Missense_Y103C,Missense_T79A exm1382889 18 33573172 [T/C] NM_018170 RPRD1A EXON Missense_N294S exm1382891 18 33573253 [T/C] NM_018170 RPRD1A EXON Missense_R267H exm2253407 18 33674808 [A/G] exm1382923 18 33689570 [A/G] NM_012319 SLC39A6 EXON Missense_R752C exm1382935 18 33692487 [C/G] NM_012319,NM_001099406 SLC39A6,SLC39A6 EXON Missense_C634S,Missense_C359S exm1382944 18 33694305 [A/G] NM_012319,NM_001099406 SLC39A6,SLC39A6 EXON Missense_P533L,Missense_P258L exm1382945 18 33694329 [T/C] NM_012319,NM_001099406 SLC39A6,SLC39A6 EXON Missense_Q525R,Missense_Q250R exm1382946 18 33694335 [T/C] NM_012319,NM_001099406 SLC39A6,SLC39A6 EXON Missense_H523R,Missense_H248R exm1382958 18 33702115 [A/G] NM_012319,NM_001099406 SLC39A6,SLC39A6 EXON Missense_S420F,Missense_S145F exm1382980 18 33706235 [T/C] NM_012319,NM_001099406 SLC39A6,SLC39A6 EXON Missense_E246K,Silent exm1382985 18 33706336 [T/C] NM_012319,NM_001099406 SLC39A6,SLC39A6 EXON Missense_K212R,Silent exm1382986 18 33706388 [T/C] NM_012319,NM_001099406 SLC39A6,SLC39A6 EXON Missense_V195I,Silent exm1382995 18 33706516 [T/C] NM_012319,NM_001099406 SLC39A6,SLC39A6 EXON Missense_D152G,Silent exm1383001 18 33706614 [G/C] NM_012319,NM_001099406 SLC39A6,SLC39A6 EXON Missense_E119D,Silent exm1383004 18 33706642 [T/C] NM_012319,NM_001099406 SLC39A6,SLC39A6 EXON Missense_R110H,Silent exm1383024 18 33709977 [C/G] NM_001242877,NM_018255,NM_001242875,NM_001242878,NR_040110,NM_001242879,NM_001242876 ELP2,ELP2,ELP2,ELP2,ELP2,ELP2,ELP2 EXON Synonymous_G27G,Synonymous_G27G,Synonymous_G27G,Synonymous_G27G,Silent,Synonymous_G27G,Synonymous_G27G exm1383035 18 33716276 [G/C] NM_001242877,NM_018255,NM_001242875,NM_001242878,NR_040110,NM_001242879,NM_001242876 ELP2,ELP2,ELP2,ELP2,ELP2,ELP2,ELP2 EXON Missense_S75C,Missense_S75C,Missense_S75C,Missense_S75C,Silent,Missense_S75C,Missense_S75C exm1383038 18 33718326 [A/C] NM_001242877,NM_018255,NM_001242875,NM_001242878,NR_040110,NM_001242879,NM_001242876 ELP2,ELP2,ELP2,ELP2,ELP2,ELP2,ELP2 EXON Missense_T128P,Missense_T128P,Missense_T128P,Missense_T128P,Silent,Missense_T128P,Missense_T128P exm1912340 18 33718362 [T/C] NM_001242877,NM_018255,NM_001242875,NM_001242878,NR_040110,NM_001242879,NM_001242876 ELP2,ELP2,ELP2,ELP2,ELP2,ELP2,ELP2 EXON Nonsense_R140X,Nonsense_R140X,Nonsense_R140X,Nonsense_R140X,Silent,Nonsense_R140X,Nonsense_R140X exm1383066 18 33726005 [A/G] NM_001242877,NM_018255,NM_001242875,NM_001242878,NR_040110,NM_001242879,NM_001242876 ELP2,ELP2,ELP2,ELP2,ELP2,ELP2,ELP2 EXON Synonymous_L303L,Synonymous_L329L,Synonymous_L394L,Synonymous_L303L,Silent,Synonymous_L259L,Synonymous_L368L exm1383073 18 33726295 [A/G] NM_001242877,NM_018255,NM_001242875,NM_001242878,NR_040110,NM_001242879,NM_001242876 ELP2,ELP2,ELP2,ELP2,ELP2,ELP2,ELP2 EXON Missense_H333R,Missense_H359R,Missense_H424R,Silent,Silent,Missense_H289R,Silent exm1383078 18 33726335 [A/T] NM_001242877,NM_018255,NM_001242875,NM_001242878,NR_040110,NM_001242879,NM_001242876 ELP2,ELP2,ELP2,ELP2,ELP2,ELP2,ELP2 EXON Synonymous_T346T,Synonymous_T372T,Synonymous_T437T,Silent,Silent,Synonymous_T302T,Silent exm1383080 18 33734831 [T/A] NM_001242877,NM_018255,NM_001242875,NM_001242878,NR_040110,NM_001242879,NM_001242876 ELP2,ELP2,ELP2,ELP2,ELP2,ELP2,ELP2 EXON Missense_I356F,Missense_I382F,Missense_I447F,Missense_I312F,Silent,Missense_I312F,Missense_I377F exm1383089 18 33736490 [T/C] NM_001242877,NM_018255,NM_001242875,NM_001242878,NR_040110,NM_001242879,NM_001242876 ELP2,ELP2,ELP2,ELP2,ELP2,ELP2,ELP2 EXON Missense_M420T,Missense_M446T,Missense_M511T,Missense_M376T,Silent,Missense_M376T,Missense_M441T exm1383092 18 33736512 [A/G] NM_001242877,NM_018255,NM_001242875,NM_001242878,NR_040110,NM_001242879,NM_001242876 ELP2,ELP2,ELP2,ELP2,ELP2,ELP2,ELP2 EXON Synonymous_V427V,Synonymous_V453V,Synonymous_V518V,Synonymous_V383V,Silent,Synonymous_V383V,Synonymous_V448V exm1383093 18 33736534 [A/C] NM_001242877,NM_018255,NM_001242875,NM_001242878,NR_040110,NM_001242879,NM_001242876 ELP2,ELP2,ELP2,ELP2,ELP2,ELP2,ELP2 EXON Missense_L435I,Missense_L461I,Missense_L526I,Missense_L391I,Silent,Missense_L391I,Missense_L456I exm1383096 18 33738805 [C/G] NM_001242877,NM_018255,NM_001242875,NM_001242878,NR_040110,NM_001242879,NM_001242876 ELP2,ELP2,ELP2,ELP2,ELP2,ELP2,ELP2 EXON Missense_S465T,Missense_S491T,Missense_S556T,Missense_S421T,Silent,Missense_S421T,Missense_S486T exm1383105 18 33739790 [A/C] NM_001242877,NM_018255,NM_001242875,NM_001242878,NR_040110,NM_001242879,NM_001242876 ELP2,ELP2,ELP2,ELP2,ELP2,ELP2,ELP2 EXON Missense_T517P,Missense_T543P,Missense_T608P,Missense_T473P,Silent,Missense_T473P,Missense_T538P exm1383116 18 33744465 [A/G] NM_001242877,NM_018255,NM_001242875,NM_001242878,NR_040110,NM_001242879,NM_001242876 ELP2,ELP2,ELP2,ELP2,ELP2,ELP2,ELP2 EXON Missense_I571V,Missense_I597V,Missense_I662V,Missense_I527V,Silent,Missense_I527V,Missense_I592V exm1383125 18 33747092 [T/C] NM_001242877,NM_018255,NM_001242875,NM_001242878,NR_040110,NM_001242879,NM_001242876 ELP2,ELP2,ELP2,ELP2,ELP2,ELP2,ELP2 EXON Synonymous_T635T,Synonymous_T661T,Synonymous_T726T,Synonymous_T591T,Silent,Synonymous_T591T,Synonymous_T656T exm1383126 18 33747114 [A/G] NM_001242877,NM_018255,NM_001242875,NM_001242878,NR_040110,NM_001242879,NM_001242876 ELP2,ELP2,ELP2,ELP2,ELP2,ELP2,ELP2 EXON Missense_S643G,Missense_S669G,Missense_S734G,Missense_S599G,Silent,Missense_S599G,Missense_S664G exm1383141 18 33751012 [A/G] NM_001242877,NM_018255,NM_001242875,NM_001242878,NR_040110,NM_001242879,NM_001242876 ELP2,ELP2,ELP2,ELP2,ELP2,ELP2,ELP2 EXON Missense_Y712C,Missense_Y738C,Missense_Y803C,Missense_Y668C,Silent,Missense_Y668C,Missense_Y733C exm1383142 18 33751013 [T/C] NM_001242877,NM_018255,NM_001242875,NM_001242878,NR_040110,NM_001242879,NM_001242876 ELP2,ELP2,ELP2,ELP2,ELP2,ELP2,ELP2 EXON Synonymous_Y712Y,Synonymous_Y738Y,Synonymous_Y803Y,Synonymous_Y668Y,Silent,Synonymous_Y668Y,Synonymous_Y733Y exm-IND18-32005033 18 33751036 [D/I] NM_001242877,NM_018255,NM_001242875,NM_001242878,NR_040110,NM_001242879,NM_001242876 ELP2,ELP2,ELP2,ELP2,ELP2,ELP2,ELP2 EXON exm1383144 18 33751043 [T/G] NM_001242877,NM_018255,NM_001242875,NM_001242878,NR_040110,NM_001242879,NM_001242876 ELP2,ELP2,ELP2,ELP2,ELP2,ELP2,ELP2 EXON Missense_K722N,Missense_K748N,Missense_K813N,Missense_K678N,Silent,Missense_K678N,Missense_K743N exm1383151 18 33754519 [T/C] NM_001242877,NM_018255,NM_001242875,NM_001242878,NR_040110,NM_001242879,NM_001242876 ELP2,ELP2,ELP2,ELP2,ELP2,ELP2,ELP2 EXON Missense_A773V,Missense_A799V,Missense_A864V,Missense_A729V,Silent,Missense_A729V,Missense_A794V exm1383166 18 33775295 [T/C] NM_017947 MOCOS EXON Missense_M73T exm1383172 18 33779645 [G/C] NM_017947 MOCOS Silent exm1383175 18 33779683 [A/G] NM_017947 MOCOS EXON Missense_T113A exm1383179 18 33779705 [A/G] NM_017947 MOCOS EXON Missense_S120N exm1383182 18 33779777 [A/G] NM_017947 MOCOS EXON Missense_R144H exm1383188 18 33779855 [T/C] NM_017947 MOCOS EXON Missense_T170I exm1383189 18 33779858 [T/C] NM_017947 MOCOS EXON Missense_P171L exm1383192 18 33779896 [A/G] NM_017947 MOCOS EXON Missense_S184G exm2275005 18 33780001 [A/G] NM_017947 MOCOS EXON Missense_V219I exm1383195 18 33780013 [T/C] NM_017947 MOCOS EXON Missense_R223W exm1383196 18 33780020 [A/G] NM_017947 MOCOS EXON Missense_H225R exm1383197 18 33780023 [T/C] NM_017947 MOCOS EXON Missense_P226L exm1383203 18 33780136 [A/G] NM_017947 MOCOS EXON Missense_K264E exm1383206 18 33780185 [A/G] NM_017947 MOCOS EXON Missense_R280H exm1383207 18 33780188 [T/C] NM_017947 MOCOS EXON Missense_A281V exm1383214 18 33783113 [A/G] NM_017947 MOCOS EXON Missense_A327T exm1383223 18 33785138 [T/C] NM_017947 MOCOS EXON Missense_R373W exm1383224 18 33785139 [A/G] NM_017947 MOCOS EXON Missense_R373Q exm1383229 18 33793365 [T/C] NM_017947 MOCOS EXON Nonsense_R419X exm1383231 18 33793419 [A/G] NM_017947 MOCOS EXON Missense_N437D exm1383235 18 33793426 [T/C] NM_017947 MOCOS EXON Missense_M439T exm1383237 18 33795494 [A/G] NM_017947 MOCOS EXON Missense_G451R exm1383242 18 33795608 [T/C] NM_017947 MOCOS EXON Missense_R489C exm1383249 18 33795732 [T/C] NM_017947 MOCOS EXON Missense_S530L exm1912407 18 33795742 [A/T] NM_017947 MOCOS EXON Missense_E533D exm1383252 18 33795759 [T/C] NM_017947 MOCOS EXON Missense_S539F exm1383254 18 33795816 [A/G] NM_017947 MOCOS EXON Missense_C558Y exm1383256 18 33795867 [T/C] NM_017947 MOCOS EXON Missense_L575P exm1383257 18 33795873 [A/G] NM_017947 MOCOS EXON Missense_G577E exm1383275 18 33828926 [T/C] NM_017947 MOCOS EXON Missense_R668W exm1383281 18 33831189 [A/C] NM_017947 MOCOS EXON Missense_H703N exm1383285 18 33837036 [A/G] NM_017947 MOCOS EXON Missense_S757N exm1383286 18 33840005 [A/G] NM_017947 MOCOS EXON Missense_E759G exm1383294 18 33848509 [T/C] NM_017947 MOCOS EXON Missense_M843T exm1383298 18 33848580 [A/G] NM_017947 MOCOS EXON Missense_V867M exm1383299 18 33848581 [T/C] NM_017947 MOCOS EXON Missense_V867A exm2260755 18 33888781 [A/G] NM_025135 FHOD3 Silent exm-rs507163 18 33907628 [T/C] NM_025135 FHOD3 Silent exm-rs17651157 18 34107452 [T/C] NM_025135 FHOD3 Silent exm1383324 18 34156464 [T/C] NM_025135 FHOD3 EXON Missense_R188C exm1383328 18 34156497 [A/G] NM_025135 FHOD3 EXON Missense_I199V exm1383336 18 34174816 [A/G] NM_025135 FHOD3 EXON Missense_A225T exm1383357 18 34205525 [A/G] NM_025135 FHOD3 EXON Missense_G337R exm1383358 18 34205531 [T/C] NM_025135 FHOD3 EXON Missense_R339W exm1383363 18 34205591 [T/C] NM_025135 FHOD3 EXON Missense_R359C exm1383385 18 34261473 [A/G] NM_025135 FHOD3 EXON Missense_R462Q exm1383386 18 34261475 [T/C] NM_025135 FHOD3 EXON Missense_R463W exm1383388 18 34261511 [T/C] NM_025135 FHOD3 EXON Missense_R475W exm1383389 18 34261521 [T/G] NM_025135 FHOD3 EXON Missense_R478I exm1383392 18 34267092 [G/C] NM_025135 FHOD3 EXON Missense_R483G exm2268093 18 34269346 [A/G] NM_025135 FHOD3 Silent exm1383394 18 34273208 [C/G] NM_025135 FHOD3 EXON Missense_H511Q exm1383412 18 34289081 [A/G] NM_025135 FHOD3 EXON Missense_E579K exm1383414 18 34289097 [T/C] NM_025135 FHOD3 EXON Missense_P584L exm1383417 18 34289142 [A/G] NM_025135 FHOD3 EXON Missense_Q599R exm1383421 18 34289205 [T/C] NM_025135 FHOD3 EXON Missense_P620L exm1383424 18 34289285 [T/G] NM_025135 FHOD3 EXON Missense_V647F exm1383442 18 34298074 [A/G] NM_025135 FHOD3 EXON Missense_K763R exm1383447 18 34298149 [A/G] NM_025135 FHOD3 EXON Missense_K788R exm1383463 18 34298542 [A/G] NM_025135 FHOD3 EXON Missense_R919Q exm1383467 18 34310709 [T/C] NM_025135 FHOD3 EXON Missense_T998M exm1383473 18 34320704 [A/G] NM_025135 FHOD3 EXON Missense_S1046N exm1383486 18 34324091 [A/G] NM_025135 FHOD3 EXON Missense_V1151I exm1383497 18 34327022 [T/C] NM_025135 FHOD3 EXON Missense_R1211W exm1383505 18 34340641 [T/C] NM_025135 FHOD3 EXON Missense_A1324V exm1383516 18 34349252 [G/C] NM_025135 FHOD3 EXON Missense_G1367A exm1383522 18 34349354 [A/G] NM_025135 FHOD3 EXON Missense_R1401K exm1383528 18 34376830 [T/C] NM_001271956,NM_001271955,NM_001271951,NM_001271953,NM_001271949,NM_001271950,NM_015476 TPGS2,TPGS2,TPGS2,TPGS2,TPGS2,TPGS2,TPGS2 EXON Silent,Silent,Silent,Silent,Missense_G246S,Missense_G238S,Missense_G281S exm1383531 18 34376896 [T/C] NM_001271956,NM_001271955,NM_001271951,NM_001271953,NM_001271949,NM_001271950,NM_015476 TPGS2,TPGS2,TPGS2,TPGS2,TPGS2,TPGS2,TPGS2 EXON Silent,Silent,Silent,Silent,Missense_V224I,Missense_V216I,Missense_V259I exm1383539 18 34378571 [T/C] NM_001271956,NM_001271955,NM_001271951,NM_001271953,NM_001271949,NM_001271950,NM_015476,NM_001271952,NM_001271954 TPGS2,TPGS2,TPGS2,TPGS2,TPGS2,TPGS2,TPGS2,TPGS2,TPGS2 EXON Synonymous_A166A,Silent,Synonymous_A166A,Synonymous_A166A,Synonymous_A131A,Synonymous_A123A,Synonymous_A166A,Synonymous_A118A,Synonymous_A166A exm1383544 18 34380205 [T/C] NM_001271956,NM_001271955,NM_001271951,NM_001271953,NM_001271949,NM_001271950,NM_015476,NM_001271952,NM_001271954 TPGS2,TPGS2,TPGS2,TPGS2,TPGS2,TPGS2,TPGS2,TPGS2,TPGS2 EXON Missense_N151S,Silent,Missense_N151S,Missense_N151S,Missense_N116S,Missense_N108S,Missense_N151S,Missense_N103S,Missense_N151S exm1383546 18 34385349 [T/C] NM_001271956,NM_001271955,NM_001271951,NM_001271953,NM_001271949,NM_001271950,NM_015476,NM_001271952,NM_001271954 TPGS2,TPGS2,TPGS2,TPGS2,TPGS2,TPGS2,TPGS2,TPGS2,TPGS2 EXON Missense_D124N,Missense_D124N,Missense_D124N,Missense_D124N,Missense_D89N,Silent,Missense_D124N,Missense_D76N,Missense_D124N exm1383555 18 34398858 [T/C] NM_001271956,NM_001271955,NM_001271951,NM_001271953,NM_001271949,NM_001271950,NM_015476,NM_001271952,NM_001271954 TPGS2,TPGS2,TPGS2,TPGS2,TPGS2,TPGS2,TPGS2,TPGS2,TPGS2 EXON Missense_Q55R,Missense_Q55R,Missense_Q55R,Missense_Q55R,Missense_Q55R,Missense_Q55R,Missense_Q55R,Missense_Q7R,Missense_Q55R exm1383557 18 34398883 [A/G] NM_001271956,NM_001271955,NM_001271951,NM_001271953,NM_001271949,NM_001271950,NM_015476,NM_001271952,NM_001271954 TPGS2,TPGS2,TPGS2,TPGS2,TPGS2,TPGS2,TPGS2,TPGS2,TPGS2 EXON Missense_R47C,Missense_R47C,Missense_R47C,Missense_R47C,Missense_R47C,Missense_R47C,Missense_R47C,Silent,Missense_R47C exm1383559 18 34398935 [T/C] NM_001271956,NM_001271955,NM_001271951,NM_001271953,NM_001271949,NM_001271950,NM_015476,NM_001271952,NM_001271954 TPGS2,TPGS2,TPGS2,TPGS2,TPGS2,TPGS2,TPGS2,TPGS2,TPGS2 EXON Synonymous_E29E,Synonymous_E29E,Synonymous_E29E,Synonymous_E29E,Synonymous_E29E,Synonymous_E29E,Synonymous_E29E,Silent,Synonymous_E29E exm1383577 18 34465613 [A/T] NM_020776 KIAA1328 EXON Missense_E142D exm2227815 18 34539352 [C/G] NM_020776 KIAA1328 EXON Missense_T177S exm1383582 18 34539379 [G/C] NM_020776 KIAA1328 EXON Missense_A186G exm1912568 18 34647177 [A/C] NM_020776 KIAA1328 EXON Missense_T301P exm1383597 18 34647253 [A/C] NM_020776 KIAA1328 EXON Missense_Q326P exm1383600 18 34647322 [T/G] NM_020776 KIAA1328 EXON Missense_G349V exm1383602 18 34647423 [T/C] NM_020776 KIAA1328 EXON Missense_R383C exm1383609 18 34740236 [A/G] NM_020776 KIAA1328 EXON Missense_N436D exm1383611 18 34740269 [A/G] NM_020776 KIAA1328 EXON Missense_V447I exm1383612 18 34740282 [T/C] NM_020776 KIAA1328 EXON Missense_S451L exm1383613 18 34740290 [A/C] NM_020776 KIAA1328 EXON Missense_K454Q exm1383621 18 34753043 [T/C] NM_020776 KIAA1328 EXON Missense_R508W exm1383627 18 34802179 [T/C] NM_020776 KIAA1328 EXON Missense_F575L exm1912590 18 34846544 [T/C] NM_001025089,NM_001025087,NM_001025088,NM_020180 CELF4,CELF4,CELF4,CELF4 EXON Missense_A363T,Missense_A372T,Missense_A371T,Missense_A373T exm2253409 18 34850804 [A/G] NM_001025089,NM_001025087,NM_001025088,NM_020180 CELF4,CELF4,CELF4,CELF4 EXON Synonymous_T332T,Synonymous_T341T,Synonymous_T340T,Synonymous_T342T exm1383650 18 34850818 [T/C] NM_001025089,NM_001025087,NM_001025088,NM_020180 CELF4,CELF4,CELF4,CELF4 EXON Missense_V328M,Missense_V337M,Missense_V336M,Missense_V338M exm1912597 18 34852992 [G/C] NM_001025089,NM_001025087,NM_001025088,NM_020180 CELF4,CELF4,CELF4,CELF4 EXON Missense_M302I,Missense_M311I,Missense_M310I,Missense_M312I exm-rs4799915 18 34928639 [T/C] NM_001025089,NM_001025087,NM_001025088,NM_020180 CELF4,CELF4,CELF4,CELF4 Silent,Silent,Silent,Silent exm1383679 18 35145388 [T/G] NM_001025089,NM_001025087,NM_001025088,NM_020180 CELF4,CELF4,CELF4,CELF4 EXON Missense_L73I,Missense_L73I,Missense_L73I,Missense_L73I exm-rs2162440 18 35214006 [A/G] exm2272660 18 35427234 [T/C] exm2253412 18 35765411 [T/G] exm2272725 18 35921514 [T/C] exm2272662 18 36492188 [T/C] exm2264665 18 36902638 [A/C] NR_024391 LINC00669 Silent exm2272663 18 36939357 [T/C] NR_024391 LINC00669 Silent exm2272664 18 37520042 [T/C] exm2268147 18 37830317 [A/G] exm-rs10502736 18 37970495 [A/C] exm2272665 18 38084525 [T/C] exm-rs7228517 18 38253818 [T/C] exm2253420 18 38593162 [T/C] exm2253423 18 39152046 [A/G] exm2268148 18 39346601 [A/G] exm1383704 18 39537593 [A/G] NM_002647 PIK3C3 EXON Missense_M43V exm1383716 18 39542579 [A/C] NM_002647 PIK3C3 EXON Nonsense_S128X exm1383730 18 39567797 [A/G] NM_002647 PIK3C3 EXON Missense_G185R exm1383763 18 39600644 [T/G] NM_002647 PIK3C3 EXON Missense_S487A exm1383777 18 39617690 [T/C] NM_002647 PIK3C3 EXON Missense_T625M exm1383779 18 39617696 [A/G] NM_002647 PIK3C3 EXON Missense_D627G exm1383790 18 39623769 [A/G] NM_002647 PIK3C3 EXON Missense_V726I exm1383798 18 39638011 [T/C] NM_002647 PIK3C3 EXON Nonsense_R810X exm2268096 18 39731208 [A/G] exm2253425 18 40182141 [A/G] NR_046174 LOC284260 Silent exm-rs8085804 18 40288293 [T/C] exm1383820 18 40323567 [T/C] NM_002930,NM_001272077 RIT2,RIT2 EXON Missense_R182H,Silent exm2272727 18 40499693 [T/C] NM_002930,NM_001272077 RIT2,RIT2 Silent,Silent exm1383834 18 40613828 [T/C] NM_002930,NM_001272077 RIT2,RIT2 EXON Missense_M36I,Missense_M36I exm2253426 18 40655271 [A/G] NM_002930,NM_001272077 RIT2,RIT2 Silent,Silent exm-rs4130047 18 40678235 [T/C] NM_002930,NM_001272077 RIT2,RIT2 Silent,Silent exm1383840 18 40695436 [T/C] NM_002930,NM_001272077 RIT2,RIT2 EXON Missense_G17R,Missense_G17R exm1383841 18 40695438 [G/C] NM_002930,NM_001272077 RIT2,RIT2 EXON Missense_G16A,Missense_G16A exm-rs17664267 18 40808798 [T/G] exm1383854 18 40850433 [T/C] NM_020783 SYT4 EXON Missense_R384Q exm1383861 18 40853609 [A/G] NM_020783 SYT4 EXON Missense_S262L exm1383862 18 40853708 [A/G] NM_020783 SYT4 EXON Missense_P229L exm1383863 18 40853742 [G/C] NM_020783 SYT4 EXON Missense_A218P exm1383875 18 40853900 [T/A] NM_020783 SYT4 EXON Missense_F165Y exm1383876 18 40853969 [T/C] NM_020783 SYT4 EXON Missense_S142N exm1383882 18 40854045 [T/C] NM_020783 SYT4 EXON Missense_D117N exm1383888 18 40854204 [G/C] NM_020783 SYT4 EXON Missense_P64A exm-rs12457996 18 40872273 [T/C] exm2264666 18 40972892 [A/C] exm2272667 18 41148471 [T/C] exm2272668 18 41694523 [T/C] exm2260766 18 42123551 [A/G] exm2253430 18 42134697 [T/C] exm1383896 18 42281472 [A/G] NM_001130110,NM_015559 SETBP1,SETBP1 EXON Missense_R54H,Missense_R54H exm-rs991014 18 42439886 [T/C] NM_001130110,NM_015559 SETBP1,SETBP1 Silent,Silent exm1383990 18 42456653 [A/G] NM_001130110,NM_015559 SETBP1,SETBP1 EXON Missense_A222T,Silent exm2253431 18 42481985 [A/G] NM_015559 SETBP1 Silent exm1383999 18 42529996 [G/C] NM_015559 SETBP1 EXON Missense_V231L exm1384001 18 42530062 [A/G] NM_015559 SETBP1 EXON Missense_A253T exm1384018 18 42530507 [A/G] NM_015559 SETBP1 EXON Missense_R401Q exm1384029 18 42530788 [T/A] NM_015559 SETBP1 EXON Missense_S495T exm1912837 18 42530961 [T/C] NM_015559 SETBP1 EXON Synonymous_D552D exm1384043 18 42531184 [T/C] NM_015559 SETBP1 EXON Missense_R627C exm1384044 18 42531185 [A/G] NM_015559 SETBP1 EXON Missense_R627H exm1384055 18 42531572 [T/C] NM_015559 SETBP1 EXON Missense_P756L exm1384086 18 42532343 [T/G] NM_015559 SETBP1 EXON Missense_L1013W exm1384093 18 42532604 [A/G] NM_015559 SETBP1 EXON Missense_H1100R exm1384094 18 42532606 [A/G] NM_015559 SETBP1 EXON Missense_V1101I exm1384098 18 42532693 [A/C] NM_015559 SETBP1 EXON Missense_P1130T exm1384103 18 42532849 [T/C] NM_015559 SETBP1 EXON Missense_S1182P exm1384118 18 42533036 [A/G] NM_015559 SETBP1 EXON Missense_Q1244R exm1384121 18 42533095 [T/G] NM_015559 SETBP1 EXON Missense_S1264A exm1384124 18 42533113 [A/G] NM_015559 SETBP1 EXON Missense_G1270S exm1384133 18 42533213 [A/C] NM_015559 SETBP1 EXON Missense_Y1303S exm1384135 18 42533267 [A/G] NM_015559 SETBP1 EXON Missense_R1321H exm1384144 18 42618545 [A/G] NM_015559 SETBP1 EXON Missense_A1366T exm1384155 18 42643270 [T/G] NM_015559 SETBP1 EXON Missense_E1466D exm1384156 18 42643370 [G/C] NM_015559 SETBP1 EXON Missense_A1500P exm2272728 18 42888797 [T/C] NM_001242692 SLC14A2 Silent exm-rs2243803 18 42956672 [T/A] NM_001242692 SLC14A2 Silent exm-rs10502868 18 43153949 [T/C] NM_001242692 SLC14A2 Silent exm1384168 18 43204683 [G/C] NM_001242692,NM_007163 SLC14A2,SLC14A2 EXON Nonsense_Y18X,Nonsense_Y18X exm1384175 18 43204739 [T/C] NM_001242692,NM_007163 SLC14A2,SLC14A2 EXON Missense_T37I,Missense_T37I exm1384179 18 43205654 [T/C] NM_001242692,NM_007163 SLC14A2,SLC14A2 EXON Missense_R53W,Missense_R53W exm1384182 18 43205726 [A/G] NM_001242692,NM_007163 SLC14A2,SLC14A2 EXON Missense_G77R,Missense_G77R exm1384183 18 43205751 [A/G] NM_001242692,NM_007163 SLC14A2,SLC14A2 EXON Missense_G85D,Missense_G85D exm1384191 18 43206985 [A/G] NM_001242692,NM_007163 SLC14A2,SLC14A2 EXON Missense_I132V,Missense_I132V exm1384193 18 43207061 [T/G] NM_001242692,NM_007163 SLC14A2,SLC14A2 EXON Missense_G157V,Missense_G157V exm2253433 18 43207095 [A/C] NM_001242692,NM_007163 SLC14A2,SLC14A2 EXON Synonymous_L168L,Synonymous_L168L exm1384197 18 43212334 [A/C] NM_001242692,NM_007163 SLC14A2,SLC14A2 EXON Missense_L181I,Missense_L181I exm1384201 18 43212374 [T/C] NM_001242692,NM_007163 SLC14A2,SLC14A2 EXON Missense_A194V,Missense_A194V exm1912885 18 43216980 [T/C] NM_001242692,NM_007163 SLC14A2,SLC14A2 EXON Missense_S226P,Missense_S226P exm1384213 18 43219733 [A/G] NM_001242692,NM_007163 SLC14A2,SLC14A2 EXON Missense_G289E,Missense_G289E exm1384214 18 43219738 [A/G] NM_001242692,NM_007163 SLC14A2,SLC14A2 EXON Missense_G291S,Missense_G291S exm1384217 18 43219777 [A/G] NM_001242692,NM_007163 SLC14A2,SLC14A2 EXON Missense_V304M,Missense_V304M exm1384219 18 43219832 [T/C] NM_001242692,NM_007163 SLC14A2,SLC14A2 EXON Missense_I322T,Missense_I322T exm1384226 18 43221254 [A/G] NM_001242692,NM_007163 SLC14A2,SLC14A2 EXON Missense_G358R,Missense_G358R exm1384232 18 43223105 [T/C] NM_001242692,NM_007163 SLC14A2,SLC14A2 EXON Missense_C379R,Missense_C379R exm1384243 18 43224101 [A/G] NM_001242692,NM_007163 SLC14A2,SLC14A2 EXON Missense_G443S,Missense_G443S exm1384246 18 43224125 [A/G] NM_001242692,NM_007163 SLC14A2,SLC14A2 EXON Missense_G451R,Missense_G451R exm-rs4890568 18 43231622 [A/G] NM_001242692,NM_007163 SLC14A2,SLC14A2 Silent,Silent exm1384252 18 43243830 [A/G] NM_001242692,NM_007163 SLC14A2,SLC14A2 EXON Missense_V478I,Missense_V478I exm1384256 18 43246156 [A/G] NM_001242692,NM_007163 SLC14A2,SLC14A2 EXON Missense_R510Q,Missense_R510Q exm1384266 18 43247034 [A/G] NM_001242692,NM_007163 SLC14A2,SLC14A2 EXON Missense_M564I,Missense_M564I exm1384267 18 43247038 [T/G] NM_001242692,NM_007163 SLC14A2,SLC14A2 EXON Nonsense_E566X,Nonsense_E566X exm1384271 18 43247837 [A/G] NM_001242692,NM_007163 SLC14A2,SLC14A2 EXON Missense_R586Q,Missense_R586Q exm1384273 18 43247894 [A/T] NM_001242692,NM_007163 SLC14A2,SLC14A2 EXON Missense_L605H,Missense_L605H exm1384275 18 43247951 [T/C] NM_001242692,NM_007163 SLC14A2,SLC14A2 EXON Missense_M624T,Missense_M624T exm1384284 18 43248372 [T/G] NM_001242692,NM_007163 SLC14A2,SLC14A2 EXON Missense_A656S,Missense_A656S exm1384285 18 43248391 [A/G] NM_001242692,NM_007163 SLC14A2,SLC14A2 EXON Missense_G662D,Missense_G662D exm1384286 18 43248393 [A/G] NM_001242692,NM_007163 SLC14A2,SLC14A2 EXON Missense_D663N,Missense_D663N exm1384294 18 43249385 [A/C] NM_001242692,NM_007163 SLC14A2,SLC14A2 EXON Missense_N717K,Missense_N717K exm1384295 18 43249386 [A/C] NM_001242692,NM_007163 SLC14A2,SLC14A2 EXON Missense_L718I,Missense_L718I exm1384298 18 43249434 [A/G] NM_001242692,NM_007163 SLC14A2,SLC14A2 EXON Missense_I734V,Missense_I734V exm1384300 18 43252883 [A/G] NM_001242692,NM_007163 SLC14A2,SLC14A2 EXON Missense_V750I,Missense_V750I exm1384301 18 43252904 [A/G] NM_001242692,NM_007163 SLC14A2,SLC14A2 EXON Missense_G757S,Missense_G757S exm1384311 18 43253781 [T/C] NM_001242692,NM_007163 SLC14A2,SLC14A2 EXON Synonymous_C837C,Synonymous_C837C exm1384323 18 43262350 [A/G] NM_001242692,NM_007163 SLC14A2,SLC14A2 EXON Missense_N877D,Missense_N877D exm1384329 18 43262408 [A/G] NM_001242692,NM_007163 SLC14A2,SLC14A2 EXON Missense_R896H,Missense_R896H exm1384333 18 43262448 [A/C] NM_001242692,NM_007163 SLC14A2,SLC14A2 EXON Synonymous_S909S,Synonymous_S909S exm2253435 18 43262448 [A/C] NM_001242692,NM_007163 SLC14A2,SLC14A2 EXON Synonymous_S909S,Synonymous_S909S exm1384338 18 43307246 [T/C] NM_015865,NM_001128588,NM_001146036,NM_001146037 SLC14A1,SLC14A1,SLC14A1,SLC14A1 EXON Silent,Missense_R4W,Silent,Missense_R4W exm1384347 18 43307378 [A/G] NM_015865,NM_001128588,NM_001146036,NM_001146037 SLC14A1,SLC14A1,SLC14A1,SLC14A1 EXON Silent,Missense_E48K,Silent,Missense_E48K exm-rs17674580 18 43309911 [T/C] NM_015865,NM_001128588,NM_001146036,NM_001146037 SLC14A1,SLC14A1,SLC14A1,SLC14A1 Silent,Silent,Silent,Silent exm1384349 18 43310313 [A/G] NM_015865,NM_001128588,NM_001146036,NM_001146037 SLC14A1,SLC14A1,SLC14A1,SLC14A1 EXON Missense_V10M,Missense_V66M,Missense_V10M,Missense_V66M exm1384350 18 43310347 [A/G] NM_015865,NM_001128588,NM_001146036,NM_001146037 SLC14A1,SLC14A1,SLC14A1,SLC14A1 EXON Missense_Q21R,Missense_Q77R,Missense_Q21R,Missense_Q77R exm1384354 18 43310415 [A/G] NM_015865,NM_001128588,NM_001146036,NM_001146037 SLC14A1,SLC14A1,SLC14A1,SLC14A1 EXON Missense_E44K,Missense_E100K,Missense_E44K,Missense_E100K exm1384357 18 43311019 [A/G] NM_015865,NM_001128588,NM_001146036,NM_001146037 SLC14A1,SLC14A1,SLC14A1,SLC14A1 EXON Missense_R64Q,Missense_R120Q,Missense_R64Q,Missense_R120Q exm1384358 18 43311021 [A/G] NM_015865,NM_001128588,NM_001146036,NM_001146037 SLC14A1,SLC14A1,SLC14A1,SLC14A1 EXON Missense_G65S,Missense_G121S,Missense_G65S,Missense_G121S exm1384363 18 43311054 [A/G] NM_015865,NM_001128588,NM_001146036,NM_001146037 SLC14A1,SLC14A1,SLC14A1,SLC14A1 EXON Missense_V76I,Missense_V132I,Missense_V76I,Missense_V132I exm2253436 18 43311131 [A/G] NM_015865,NM_001128588,NM_001146036,NM_001146037 SLC14A1,SLC14A1,SLC14A1,SLC14A1 EXON Synonymous_V101V,Synonymous_V157V,Synonymous_V101V,Synonymous_V157V exm1384367 18 43311131 [A/G] NM_015865,NM_001128588,NM_001146036,NM_001146037 SLC14A1,SLC14A1,SLC14A1,SLC14A1 EXON Synonymous_V101V,Synonymous_V157V,Synonymous_V101V,Synonymous_V157V exm1384368 18 43314238 [A/G] NM_015865,NM_001128588,NM_001146036,NM_001146037 SLC14A1,SLC14A1,SLC14A1,SLC14A1 Silent,Silent,Silent,Silent exm1384377 18 43316473 [A/G] NM_015865,NM_001128588,NM_001146036,NM_001146037 SLC14A1,SLC14A1,SLC14A1,SLC14A1 EXON Missense_V175I,Missense_V231I,Missense_V175I,Missense_V231I exm1384382 18 43316512 [T/C] NM_015865,NM_001128588,NM_001146036,NM_001146037 SLC14A1,SLC14A1,SLC14A1,SLC14A1 EXON Missense_L188F,Missense_L244F,Missense_L188F,Missense_L244F exm1384394 18 43319234 [T/G] NM_015865,NM_001128588,NM_001146036,NM_001146037 SLC14A1,SLC14A1,SLC14A1,SLC14A1 EXON Missense_C257F,Missense_C313F,Missense_C257F,Missense_C313F exm1384398 18 43319274 [A/G] NM_015865,NM_001128588,NM_001146036,NM_001146037 SLC14A1,SLC14A1,SLC14A1,SLC14A1 EXON Synonymous_A270A,Synonymous_A326A,Synonymous_A270A,Synonymous_A326A exm1384400 18 43319519 [A/G] NM_015865,NM_001128588,NM_001146036,NM_001146037 SLC14A1,SLC14A1,SLC14A1,SLC14A1 EXON Missense_D280N,Missense_D336N,Missense_D280N,Missense_D336N exm1384401 18 43319552 [T/C] NM_015865,NM_001128588,NM_001146036,NM_001146037 SLC14A1,SLC14A1,SLC14A1,SLC14A1 EXON Missense_S291P,Missense_S347P,Missense_S291P,Missense_S347P exm1384417 18 43329864 [A/T] NM_015865,NM_001128588,NM_001146036,NM_001146037 SLC14A1,SLC14A1,SLC14A1,SLC14A1 EXON Missense_N373I,Missense_N429I,Missense_N373I,Missense_N429I exm1912964 18 43405725 [T/G] NM_213602 SIGLEC15 EXON Missense_L11W exm1384449 18 43418689 [G/C] NM_213602 SIGLEC15 EXON Missense_P168R exm1384451 18 43418709 [A/G] NM_213602 SIGLEC15 EXON Missense_V175M exm1912971 18 43418718 [A/C] NM_213602 SIGLEC15 EXON Missense_S178R exm1384466 18 43420177 [A/G] NM_213602 SIGLEC15 EXON Synonymous_E292E exm2272671 18 43425494 [T/C] exm1384478 18 43435600 [T/C] NM_020964 EPG5 EXON Missense_M2499V exm1384488 18 43438555 [T/C] NM_020964 EPG5 EXON Missense_K2401R exm1384490 18 43438592 [A/C] NM_020964 EPG5 EXON Missense_L2389V exm1384493 18 43438605 [T/G] NM_020964 EPG5 EXON Missense_N2384K exm1384498 18 43438739 [T/G] NM_020964 EPG5 EXON Missense_N2340H exm1384505 18 43440233 [A/G] NM_020964 EPG5 EXON Missense_I2282T exm1384512 18 43440291 [C/G] NM_020964 EPG5 EXON Missense_H2263D exm1384515 18 43445581 [A/G] NM_020964 EPG5 EXON Synonymous_P2255P exm1384529 18 43447536 [T/C] NM_020964 EPG5 EXON Missense_D2135N exm1384536 18 43447683 [A/C] NM_020964 EPG5 EXON Missense_L2086V exm1384538 18 43450591 [A/G] NM_020964 EPG5 EXON Missense_R2056W exm1913002 18 43450596 [A/G] NM_020964 EPG5 EXON Missense_T2054M exm1384548 18 43456297 [A/G] NM_020964 EPG5 EXON Missense_R1985W exm1384565 18 43460116 [T/C] NM_020964 EPG5 EXON Missense_S1864N exm1384566 18 43460123 [T/C] NM_020964 EPG5 EXON Missense_A1862T exm1913015 18 43464613 [T/C] NM_020964 EPG5 EXON Missense_N1758S exm1384600 18 43479376 [A/G] NM_020964 EPG5 EXON Missense_T1601M exm1384603 18 43479412 [T/C] NM_020964 EPG5 EXON Missense_S1589N exm1384613 18 43481063 [A/G] NM_020964 EPG5 EXON Missense_T1515M exm1384614 18 43481066 [A/G] NM_020964 EPG5 EXON Missense_P1514L exm1384615 18 43481075 [A/G] NM_020964 EPG5 EXON Missense_A1511V exm1384616 18 43481085 [A/G] NM_020964 EPG5 EXON Missense_P1508S exm1384617 18 43481105 [T/C] NM_020964 EPG5 EXON Missense_R1501Q exm1913039 18 43490537 [G/C] NM_020964 EPG5 EXON Missense_S1385C exm1384634 18 43490652 [T/G] NM_020964 EPG5 EXON Missense_N1347H exm1384635 18 43490654 [A/G] NM_020964 EPG5 EXON Missense_I1346T exm1384642 18 43492340 [T/C] NM_020964 EPG5 EXON Missense_V1300I exm1384645 18 43493733 [A/G] NM_020964 EPG5 EXON Missense_R1252W exm1384648 18 43495561 [T/C] NM_020964 EPG5 EXON Missense_R1203Q exm1384653 18 43496063 [T/C] NM_020964 EPG5 EXON Missense_I1165V exm1384661 18 43496474 [A/G] NM_020964 EPG5 EXON Missense_H1105Y exm1384662 18 43496484 [T/G] NM_020964 EPG5 EXON Missense_Q1101H exm1384664 18 43496501 [A/G] NM_020964 EPG5 EXON Missense_P1096S exm1384665 18 43496507 [T/C] NM_020964 EPG5 EXON Missense_G1094S exm1384668 18 43497648 [T/C] NM_020964 EPG5 EXON Missense_E1079K exm1384670 18 43497708 [A/G] NM_020964 EPG5 EXON Missense_H1059Y exm1384671 18 43497710 [A/G] NM_020964 EPG5 EXON Missense_V1058A exm1384673 18 43502326 [T/C] NM_020964 EPG5 EXON Missense_M1027V exm1384678 18 43502407 [T/C] NM_020964 EPG5 EXON Missense_M1000V exm1384683 18 43502494 [A/C] NM_020964 EPG5 EXON Missense_L971V exm1384684 18 43502524 [T/C] NM_020964 EPG5 EXON Missense_E961K exm1384694 18 43505720 [A/C] NM_020964 EPG5 EXON Missense_W901L exm1384704 18 43508962 [A/G] NM_020964 EPG5 EXON Missense_T809I exm2275006 18 43510680 [T/C] NM_020964 EPG5 EXON Missense_E792K exm1384707 18 43510722 [T/C] NM_020964 EPG5 EXON Missense_T778A exm1384708 18 43510751 [T/C] NM_020964 EPG5 EXON Missense_N768S exm1384709 18 43510795 [A/G] NM_020964 EPG5 EXON Synonymous_D753D exm1384719 18 43519602 [A/G] NM_020964 EPG5 EXON Missense_F688S exm1384727 18 43523240 [T/C] NM_020964 EPG5 EXON Missense_M610I exm1384731 18 43523997 [T/C] NM_020964 EPG5 EXON Missense_Q589R exm2227835 18 43526697 [T/C] NM_020964 EPG5 EXON Missense_E537K exm1384743 18 43529512 [A/G] NM_020964 EPG5 EXON Missense_L479F exm1384748 18 43531186 [T/C] NM_020964 EPG5 EXON Missense_S424N exm1384757 18 43532570 [A/G] NM_020964 EPG5 EXON Missense_R350C exm2253438 18 43532607 [A/C] NM_020964 EPG5 EXON Synonymous_G337G exm1384760 18 43534361 [T/C] NM_020964 EPG5 EXON Missense_Q336R exm1384761 18 43534400 [A/C] NM_020964 EPG5 EXON Missense_S323I exm1384767 18 43534568 [A/G] NM_020964 EPG5 EXON Missense_S267L exm1384769 18 43534628 [A/G] NM_020964 EPG5 EXON Missense_P247L exm1384773 18 43534685 [T/G] NM_020964 EPG5 EXON Missense_P228Q exm1384774 18 43534694 [C/G] NM_020964 EPG5 EXON Missense_G225A exm1384776 18 43534824 [T/C] NM_020964 EPG5 EXON Missense_K182E exm1384778 18 43534874 [A/G] NM_020964 EPG5 EXON Missense_P165L exm1384784 18 43534944 [T/C] NM_020964 EPG5 EXON Missense_E142K exm1384785 18 43534961 [T/C] NM_020964 EPG5 EXON Missense_K136R exm1384789 18 43535069 [A/G] NM_020964 EPG5 EXON Missense_T100I exm1384792 18 43535154 [T/C] NM_020964 EPG5 EXON Missense_A72T exm1384799 18 43535264 [T/C] NM_020964 EPG5 EXON Missense_S35N exm1384814 18 43568715 [A/C] NM_024430 PSTPIP2 EXON Missense_N322K exm1384815 18 43568717 [T/C] NM_024430 PSTPIP2 EXON Missense_N322D exm1913110 18 43573630 [A/G] NM_024430 PSTPIP2 EXON Missense_R228W exm1384856 18 43595893 [A/G] NM_024430 PSTPIP2 EXON Missense_R75W exm1384886 18 43666424 [A/G] NM_001001937,NM_001001935,NM_001257335,NM_001257334,NM_004046 ATP5A1,ATP5A1,ATP5A1,ATP5A1,ATP5A1 EXON Missense_R405C,Missense_R355C,Missense_R355C,Missense_R383C,Missense_R405C exm1384898 18 43668207 [T/C] NM_001001937,NM_001001935,NM_001257335,NM_001257334,NM_004046 ATP5A1,ATP5A1,ATP5A1,ATP5A1,ATP5A1 EXON Missense_I223V,Missense_I173V,Missense_I173V,Missense_I201V,Missense_I223V exm1384904 18 43669677 [A/G] NM_001001937,NM_001001935,NM_001257335,NM_001257334,NM_004046 ATP5A1,ATP5A1,ATP5A1,ATP5A1,ATP5A1 EXON Missense_R169C,Missense_R119C,Missense_R119C,Missense_R147C,Missense_R169C exm1384905 18 43669679 [A/G] NM_001001937,NM_001001935,NM_001257335,NM_001257334,NM_004046 ATP5A1,ATP5A1,ATP5A1,ATP5A1,ATP5A1 EXON Missense_T168M,Missense_T118M,Missense_T118M,Missense_T146M,Missense_T168M exm1384911 18 43669856 [T/C] NM_001001937,NM_001001935,NM_001257335,NM_001257334,NM_004046 ATP5A1,ATP5A1,ATP5A1,ATP5A1,ATP5A1 EXON Missense_D139G,Missense_D89G,Missense_D89G,Missense_D139G,Missense_D139G exm1384919 18 43671709 [T/C] NM_001001937,NM_001001935,NM_001257335,NM_001257334,NM_004046 ATP5A1,ATP5A1,ATP5A1,ATP5A1,ATP5A1 EXON Missense_R83H,Missense_R33H,Missense_R33H,Missense_R83H,Missense_R83H exm1384928 18 43675046 [T/C] NM_001001937,NM_001001935,NM_001257335,NM_001257334,NM_004046 ATP5A1,ATP5A1,ATP5A1,ATP5A1,ATP5A1 EXON Missense_A38T,Silent,Silent,Missense_A38T,Missense_A38T exm1384929 18 43675064 [A/C] NM_001001937,NM_001001935,NM_001257335,NM_001257334,NM_004046 ATP5A1,ATP5A1,ATP5A1,ATP5A1,ATP5A1 EXON Missense_A32S,Silent,Silent,Missense_A32S,Missense_A32S exm1384935 18 43678173 [T/C] NM_001001937,NM_001001935,NM_001257335,NM_001257334,NM_004046 ATP5A1,ATP5A1,ATP5A1,ATP5A1,ATP5A1 EXON Missense_A9T,Silent,Silent,Missense_A9T,Missense_A9T exm1384959 18 43698246 [T/C] NR_026978,NM_138443 HAUS1,HAUS1 EXON Silent,Missense_A102V exm2227841 18 43699903 [A/C] NR_026978,NM_138443 HAUS1,HAUS1 EXON Silent,Missense_A118E exm1384966 18 43699932 [T/C] NR_026978,NM_138443 HAUS1,HAUS1 EXON Silent,Missense_R128C exm1384972 18 43700025 [A/G] NR_026978,NM_138443 HAUS1,HAUS1 EXON Silent,Missense_E159K exm1384985 18 43703331 [A/G] NR_026978,NM_138443 HAUS1,HAUS1 Silent,Silent exm1384986 18 43704803 [A/G] NR_026978,NM_138443 HAUS1,HAUS1 EXON Silent,Missense_K228E exm1384989 18 43704839 [T/C] NR_026978,NM_138443 HAUS1,HAUS1 EXON Silent,Missense_S240P exm1384993 18 43708059 [G/C] NR_026978,NM_138443 HAUS1,HAUS1 EXON Silent,Missense_L269V exm1385000 18 43795986 [T/C] NM_145055,NM_001008239 C18orf25,C18orf25 EXON Missense_A47V,Missense_A47V exm1385003 18 43796123 [T/C] NM_145055,NM_001008239 C18orf25,C18orf25 EXON Missense_C93R,Missense_C93R exm1385016 18 43796439 [A/G] NM_145055,NM_001008239 C18orf25,C18orf25 EXON Missense_Y198C,Missense_Y198C exm1385023 18 43833689 [A/G] NM_145055,NM_001008239 C18orf25,C18orf25 EXON Missense_S309G,Missense_S248G exm2272729 18 43948582 [T/C] NM_001256758,NM_152470 RNF165,RNF165 Silent,Silent exm1385052 18 44015319 [T/C] NM_001256758,NM_152470 RNF165,RNF165 EXON Silent,Nonsense_Q149X exm1385060 18 44027628 [T/G] NM_001256758,NM_152470 RNF165,RNF165 EXON Missense_F4L,Missense_F196L exm1385076 18 44036029 [T/G] NM_001256758,NM_152470 RNF165,RNF165 EXON Missense_D111E,Missense_D303E exm1385083 18 44057151 [T/C] NM_001173129,NM_001145472 LOXHD1,LOXHD1 EXON Silent,Missense_G1114R exm1385091 18 44057673 [T/C] NM_001173129,NM_001145472,NM_144612,NM_001145473 LOXHD1,LOXHD1,LOXHD1,LOXHD1 EXON Missense_R434H,Missense_R1084H,Missense_R2133H,Missense_R434H exm1385098 18 44063598 [A/G] NM_001173129,NM_001145472,NM_144612,NM_001145473 LOXHD1,LOXHD1,LOXHD1,LOXHD1 EXON Missense_A337V,Missense_A987V,Missense_A2036V,Missense_A337V exm1385106 18 44064995 [A/G] NM_001173129,NM_001145472,NM_144612,NM_001145473 LOXHD1,LOXHD1,LOXHD1,LOXHD1 EXON Missense_R296W,Missense_R946W,Missense_R1995W,Missense_R296W exm1385109 18 44068950 [T/C] NM_001173129,NM_001145472,NM_144612,NM_001145473 LOXHD1,LOXHD1,LOXHD1,LOXHD1 EXON Missense_E251K,Missense_E901K,Missense_E1950K,Missense_E251K exm1385117 18 44085877 [T/G] NM_001173129,NM_001145472,NM_144612,NM_001145473 LOXHD1,LOXHD1,LOXHD1,LOXHD1 EXON Missense_N173K,Missense_N823K,Missense_N1872K,Missense_N173K exm1385124 18 44087609 [A/G] NM_001173129,NM_001145472,NM_144612,NM_001145473 LOXHD1,LOXHD1,LOXHD1,LOXHD1 EXON Missense_R101W,Missense_R751W,Missense_R1800W,Missense_R101W exm1385137 18 44089768 [T/C] NM_001173129,NM_001145472,NM_144612,NM_001145473 LOXHD1,LOXHD1,LOXHD1,LOXHD1 EXON Missense_E43K,Missense_E693K,Missense_E1742K,Missense_E43K exm1385153 18 44102126 [A/G] NM_001145472,NM_144612 LOXHD1,LOXHD1 EXON Missense_R564C,Missense_R1675C exm1385156 18 44102192 [T/C] NM_001145472,NM_144612 LOXHD1,LOXHD1 EXON Missense_G542R,Missense_G1653R exm2227846 18 44102263 [T/C] NM_001145472,NM_144612 LOXHD1,LOXHD1 EXON Missense_Y518C,Missense_Y1629C exm1385158 18 44104437 [T/C] NM_001145472,NM_144612 LOXHD1,LOXHD1 EXON Missense_E512G,Missense_E1623G exm1385166 18 44104691 [T/C] NM_001145472,NM_144612 LOXHD1,LOXHD1 EXON Missense_E463K,Missense_E1574K exm1385171 18 44109144 [T/C] NM_001145472,NM_144612 LOXHD1,LOXHD1 EXON Missense_G398E,Missense_G1509E exm1385172 18 44109147 [T/C] NM_001145472,NM_144612 LOXHD1,LOXHD1 EXON Missense_R397K,Missense_R1508K exm1385173 18 44109166 [A/G] NM_001145472,NM_144612 LOXHD1,LOXHD1 EXON Missense_R391W,Missense_R1502W exm1385175 18 44109205 [T/C] NM_001145472,NM_144612 LOXHD1,LOXHD1 EXON Missense_G378R,Missense_G1489R exm1385181 18 44113279 [A/C] NM_001145472,NM_144612 LOXHD1,LOXHD1 EXON Missense_E296D,Missense_E1407D exm1385182 18 44113283 [A/G] NM_001145472,NM_144612 LOXHD1,LOXHD1 EXON Missense_A295V,Missense_A1406V exm1385187 18 44114362 [A/G] NM_001145472,NM_144612 LOXHD1,LOXHD1 EXON Missense_T272M,Missense_T1383M exm1385213 18 44126909 [T/C] NM_001145472,NM_144612 LOXHD1,LOXHD1 EXON Missense_R44G,Missense_R1155G exm2264661 18 44134749 [A/C] NM_001145472,NM_144612 LOXHD1,LOXHD1 Silent,Silent exm1385225 18 44137400 [T/C] NM_001145472,NM_144612 LOXHD1,LOXHD1 EXON Silent,Missense_R1090Q exm1385235 18 44140109 [A/G] NM_144612 LOXHD1 EXON Missense_R1000W exm1385253 18 44143047 [A/G] NM_144612 LOXHD1 EXON Missense_A860V exm1385257 18 44143153 [T/C] NM_144612 LOXHD1 EXON Missense_V825M exm1385275 18 44152066 [G/C] NM_144612 LOXHD1 EXON Missense_S677T exm1385276 18 44152069 [T/C] NM_144612 LOXHD1 EXON Missense_D676G exm1385278 18 44157695 [T/C] NM_144612 LOXHD1 EXON Missense_D649N exm2227847 18 44157745 [A/C] NM_144612 LOXHD1 EXON Missense_G632V exm1385283 18 44157764 [A/C] NM_144612 LOXHD1 EXON Missense_G626C exm1385299 18 44171933 [T/C] NM_144612 LOXHD1 EXON Missense_M539I exm1385302 18 44171979 [T/C] NM_144612 LOXHD1 EXON Missense_R524H exm1385303 18 44171980 [A/G] NM_144612 LOXHD1 EXON Missense_R524C exm1385313 18 44181227 [T/C] NM_144612 LOXHD1 EXON Missense_V363I exm1385322 18 44181425 [T/G] NM_144612 LOXHD1 EXON Missense_T297P exm1385333 18 44221971 [T/C] NM_144612 LOXHD1 EXON Missense_V92I exm1385335 18 44229166 [G/C] NM_144612 LOXHD1 EXON Missense_T66R exm1385338 18 44229197 [T/C] NM_144612 LOXHD1 EXON Missense_G56S exm1385339 18 44236995 [T/A] NM_144612 LOXHD1 EXON Missense_M1K exm1385346 18 44260159 [A/G] NM_013305 ST8SIA5 EXON Missense_M326T exm1385357 18 44260352 [T/G] NM_013305 ST8SIA5 EXON Missense_K262Q exm1385358 18 44260367 [T/C] NM_013305 ST8SIA5 EXON Missense_V257M exm1385369 18 44262027 [T/C] NM_013305 ST8SIA5 EXON Synonymous_R190R exm1385372 18 44266172 [A/G] NM_013305 ST8SIA5 EXON Synonymous_C178C exm1385373 18 44266176 [T/C] NM_013305 ST8SIA5 EXON Missense_R177H exm1385375 18 44268752 [A/G] NM_013305 ST8SIA5 EXON Missense_R148C exm1385381 18 44268872 [T/A] NM_013305 ST8SIA5 EXON Missense_S108T exm1385384 18 44272162 [A/G] NM_013305 ST8SIA5 EXON Missense_A94V exm1385395 18 44392443 [T/C] NM_004671 PIAS2 EXON Missense_I607V exm1385420 18 44416386 [T/C] NM_004671,NM_173206 PIAS2,PIAS2 EXON Missense_K379R,Missense_K379R exm2253440 18 44470697 [T/G] NM_004671,NM_173206 PIAS2,PIAS2 EXON Synonymous_S115S,Synonymous_S115S exm1385448 18 44470854 [T/C] NM_004671,NM_173206 PIAS2,PIAS2 EXON Missense_R63H,Missense_R63H exm1385498 18 44559399 [T/C] NM_031303,NM_016427 KATNAL2,TCEB3B EXON Silent,Missense_Y746C exm1385521 18 44559730 [T/C] NM_031303,NM_016427 KATNAL2,TCEB3B EXON Silent,Missense_G636S exm1385527 18 44559801 [G/C] NM_031303,NM_016427 KATNAL2,TCEB3B EXON Silent,Missense_P612R exm1385532 18 44559844 [A/G] NM_031303,NM_016427 KATNAL2,TCEB3B EXON Silent,Missense_P598S exm1385537 18 44559904 [C/G] NM_031303,NM_016427 KATNAL2,TCEB3B EXON Silent,Missense_V578L exm1385539 18 44559933 [T/A] NM_031303,NM_016427 KATNAL2,TCEB3B EXON Silent,Missense_Y568F exm1385547 18 44560038 [A/C] NM_031303,NM_016427 KATNAL2,TCEB3B EXON Silent,Missense_C533F exm1385558 18 44560123 [T/C] NM_031303,NM_016427 KATNAL2,TCEB3B EXON Silent,Missense_G505R exm1385577 18 44560429 [A/C] NM_031303,NM_016427 KATNAL2,TCEB3B EXON Silent,Missense_A403S exm1385580 18 44560480 [T/A] NM_031303,NM_016427 KATNAL2,TCEB3B EXON Silent,Missense_Y386N exm1385586 18 44560520 [A/C] NM_031303,NM_016427 KATNAL2,TCEB3B EXON Silent,Missense_M372I exm1385587 18 44560527 [A/C] NM_031303,NM_016427 KATNAL2,TCEB3B EXON Silent,Missense_V370G exm1385599 18 44560693 [T/C] NM_031303,NM_016427 KATNAL2,TCEB3B EXON Silent,Missense_K315E exm1385601 18 44560732 [C/G] NM_031303,NM_016427 KATNAL2,TCEB3B EXON Silent,Missense_D302H exm1385613 18 44560875 [A/C] NM_031303,NM_016427 KATNAL2,TCEB3B EXON Silent,Missense_C254F exm1385629 18 44561100 [C/G] NM_031303,NM_016427 KATNAL2,TCEB3B EXON Silent,Missense_R179P exm1385630 18 44561110 [T/C] NM_031303,NM_016427 KATNAL2,TCEB3B EXON Silent,Missense_A176T exm1913324 18 44561124 [C/G] NM_031303,NM_016427 KATNAL2,TCEB3B EXON Silent,Missense_S171C exm1385676 18 44584606 [A/G] NM_031303 KATNAL2 EXON Synonymous_R39R exm1385681 18 44584658 [T/C] NM_031303 KATNAL2 EXON Missense_R57W exm-rs2576037 18 44585420 [T/C] NM_031303 KATNAL2 Silent exm1385692 18 44585943 [C/G] NM_031303 KATNAL2 EXON Missense_T84S exm1385693 18 44585945 [T/C] NM_031303 KATNAL2 EXON Missense_R85C exm1385694 18 44585946 [A/G] NM_031303 KATNAL2 EXON Missense_R85H exm1385695 18 44585955 [A/G] NM_031303 KATNAL2 EXON Missense_S88N exm1385711 18 44589658 [T/C] NM_031303 KATNAL2 EXON Nonsense_R146X exm1385712 18 44589659 [A/G] NM_031303 KATNAL2 EXON Missense_R146Q exm1385715 18 44589706 [T/C] NM_031303 KATNAL2 EXON Nonsense_R162X exm1913344 18 44593458 [T/G] NM_031303 KATNAL2 EXON Missense_L193V exm1385721 18 44593460 [A/T] NM_031303 KATNAL2 EXON Missense_L193F exm1385734 18 44595922 [T/C] NM_031303 KATNAL2 EXON Missense_A248V exm1385738 18 44601667 [A/G] NM_031303 KATNAL2 EXON Missense_R271H exm1385742 18 44603758 [T/G] NM_031303 KATNAL2 EXON Missense_E307D exm1385743 18 44603794 [A/T] NM_031303 KATNAL2 EXON Missense_E319D exm1385754 18 44625763 [A/G] NM_031303 KATNAL2 EXON Missense_S382N exm1385760 18 44626679 [A/G] NM_031303 KATNAL2 EXON Missense_M405V exm1385762 18 44627251 [C/G] NM_031303 KATNAL2 EXON Missense_P426A exm1385772 18 44635148 [A/G] NM_032124 HDHD2 EXON Nonsense_R229X exm1385775 18 44639365 [T/C] NM_032124 HDHD2 EXON Missense_G220D exm1385783 18 44641655 [T/C] NM_032124 HDHD2 EXON Missense_G154S exm1385787 18 44656675 [A/G] NM_032124 HDHD2 EXON Missense_A112V exm1385790 18 44660923 [T/C] NM_032124 HDHD2 EXON Missense_R85Q exm1385791 18 44660924 [A/G] NM_032124 HDHD2 EXON Missense_R85W exm1913376 18 44660980 [A/T] NM_032124 HDHD2 EXON Missense_D66V exm1385799 18 44661034 [T/G] NM_032124 HDHD2 EXON Missense_T48K exm1385801 18 44661074 [A/G] NM_032124 HDHD2 EXON Synonymous_L35L exm1385801-other 18 44661074 [A/G] NM_032124 HDHD2 EXON Synonymous_L35L exm1385810 18 44683830 [T/C] NM_016097 IER3IP1 EXON Missense_R57Q exm-rs1398217 18 44752238 [C/G] exm2253444 18 44819849 [T/C] exm2260770 18 45110833 [A/G] exm2268100 18 45217834 [A/G] exm1385860 18 45555783 [G/C] NM_001039360 ZBTB7C EXON Missense_A570P exm2253447 18 45566276 [A/G] NM_001039360 ZBTB7C EXON Synonymous_F401F exm1385889 18 45566421 [A/C] NM_001039360 ZBTB7C EXON Missense_V353G exm1385892 18 45566448 [T/C] NM_001039360 ZBTB7C EXON Missense_G344E exm1385897 18 45566499 [A/G] NM_001039360 ZBTB7C EXON Missense_A327V exm1385905 18 45566599 [T/C] NM_001039360 ZBTB7C EXON Missense_K294E exm1385912 18 45566731 [A/G] NM_001039360 ZBTB7C EXON Missense_P250S exm1385913 18 45566752 [T/C] NM_001039360 ZBTB7C EXON Missense_D243N exm1385918 18 45566811 [T/C] NM_001039360 ZBTB7C EXON Missense_R223Q exm1385932 18 45566996 [A/C] NM_001039360 ZBTB7C EXON Missense_E161D exm1385935 18 45567029 [A/C] NM_001039360 ZBTB7C EXON Missense_D150E exm1385951 18 45567178 [T/C] NM_001039360 ZBTB7C EXON Missense_A101T exm2253448 18 45614308 [T/C] NM_001039360 ZBTB7C Silent exm2268151 18 46044052 [A/G] exm1913421 18 46146084 [A/G] NM_001142397,NM_014772 CTIF,CTIF EXON Missense_E50K,Missense_E50K exm1385983 18 46162992 [T/C] NM_001142397,NM_014772 CTIF,CTIF EXON Missense_A63V,Missense_A63V exm1385986 18 46163007 [T/C] NM_001142397,NM_014772 CTIF,CTIF EXON Missense_P68L,Missense_P68L exm1385987 18 46163022 [A/G] NM_001142397,NM_014772 CTIF,CTIF EXON Missense_C73Y,Missense_C73Y exm1385990 18 46163049 [T/C] NM_001142397,NM_014772 CTIF,CTIF EXON Missense_P82L,Missense_P82L exm1386018 18 46284585 [G/C] NM_001142397,NM_014772 CTIF,CTIF EXON Missense_L294V,Missense_L294V exm1386022 18 46284598 [A/G] NM_001142397,NM_014772 CTIF,CTIF EXON Missense_R298H,Missense_R298H exm1386037 18 46284715 [A/G] NM_001142397,NM_014772 CTIF,CTIF EXON Missense_R337Q,Missense_R337Q exm2253449 18 46352562 [A/G] NM_001142397,NM_014772 CTIF,CTIF Silent,Silent exm1386072 18 46383972 [A/G] NM_001142397,NM_014772 CTIF,CTIF EXON Missense_Q516R,Missense_Q514R exm2273563 18 46385959 [A/G] NM_001142397,NM_014772 CTIF,CTIF EXON Silent,Silent exm2260772 18 46440489 [T/C] exm1386090 18 46447801 [T/G] NM_001190822,NM_001190823,NM_001190821,NM_005904 SMAD7,SMAD7,SMAD7,SMAD7 EXON Missense_T193P,Missense_T220P,Missense_T407P,Missense_T408P exm-rs4939827 18 46453463 [T/C] NM_001190822,NM_001190823,NM_001190821,NM_005904 SMAD7,SMAD7,SMAD7,SMAD7 Silent,Silent,Silent,Silent exm1386112 18 46468896 [T/C] NM_001190822,NM_001190823,NM_001190821,NM_005904 SMAD7,SMAD7,SMAD7,SMAD7 EXON Missense_A18T,Missense_A45T,Missense_A232T,Missense_A233T exm1386114 18 46468946 [A/G] NM_001190822,NM_001190823,NM_001190821,NM_005904 SMAD7,SMAD7,SMAD7,SMAD7 EXON Silent,Missense_S28F,Silent,Silent exm1386118 18 46474757 [T/C] NM_001190822,NM_001190821,NM_005904 SMAD7,SMAD7,SMAD7 EXON Missense_T7A,Missense_T222A,Missense_T222A exm1386154 18 46623780 [T/C] NM_017653 DYM EXON Missense_R618G exm1386157 18 46623854 [T/C] NM_017653 DYM EXON Missense_Q593R exm1386161 18 46623873 [A/G] NM_017653 DYM EXON Missense_F587L exm1386166 18 46645157 [T/C] NM_017653 DYM EXON Missense_R568Q exm1386167 18 46645164 [A/G] NM_017653 DYM EXON Nonsense_Q566X exm-rs11661691 18 46770186 [T/G] NM_017653 DYM Silent exm1386180 18 46798603 [A/G] NM_017653 DYM EXON Missense_I399T exm1386185 18 46808512 [T/G] NM_017653 DYM EXON Missense_A327D exm1386187 18 46812830 [A/G] NM_017653 DYM EXON Missense_A307V exm1386188 18 46812843 [A/G] NM_017653 DYM EXON Missense_P303S exm1386210 18 46860218 [T/A] NM_017653 DYM EXON Missense_I167N exm1913535 18 46889540 [A/G] NM_017653 DYM EXON Missense_I162T exm1386216 18 46904937 [T/C] NM_017653 DYM EXON Missense_S141G exm1386222 18 46905042 [T/C] NM_017653 DYM EXON Missense_A106T exm-rs9967417 18 46959500 [G/C] NM_017653 DYM Silent exm2268102 18 46976586 [A/G] NM_017653 DYM Silent exm-rs8099594 18 46991160 [A/G] exm1386239 18 47008746 [A/G] NM_001199346,NM_001199355,NM_001199356,NM_001035005 C18orf32,RPL17-C18orf32,RPL17-C18orf32,C18orf32 EXON Missense_P67L,Silent,Silent,Missense_P67L exm1386244 18 47010017 [A/G] NM_001199346,NM_001199355,NM_001199356,NM_001035005 C18orf32,RPL17-C18orf32,RPL17-C18orf32,C18orf32 EXON Synonymous_R34R,Missense_V211A,Missense_V173A,Synonymous_R34R exm1386248 18 47010098 [A/G] NM_001199346,NM_001199355,NM_001199356,NM_001035005 C18orf32,RPL17-C18orf32,RPL17-C18orf32,C18orf32 EXON Synonymous_I7I,Missense_S184L,Missense_S146L,Synonymous_I7I exm1386268 18 47017197 [T/C] NM_001199355,NM_001199356,NM_001035006,NM_001199341,NM_001199345,NM_001199340,NM_001199342,NM_001199343,NM_001199344,NM_000985 RPL17-C18orf32,RPL17-C18orf32,RPL17,RPL17,RPL17,RPL17,RPL17,RPL17,RPL17,RPL17 EXON Missense_R61Q,Missense_R23Q,Missense_R61Q,Missense_R61Q,Missense_R23Q,Missense_R61Q,Missense_R61Q,Missense_R61Q,Missense_R61Q,Missense_R61Q exm1386285 18 47088754 [A/G] NM_006033 LIPG EXON Missense_G26S exm1386287 18 47091686 [A/G] NM_006033 LIPG Silent exm1386293 18 47091807 [T/C] NM_006033 LIPG EXON Missense_P73L exm2253452 18 47093817 [T/C] NM_006033 LIPG EXON Synonymous_S95S exm1913581 18 47093817 [T/C] NM_006033 LIPG EXON Synonymous_S95S exm1386297 18 47093818 [A/G] NM_006033 LIPG EXON Missense_G96S exm1386298 18 47093864 [T/C] NM_006033 LIPG EXON Missense_T111I exm1913586 18 47095862 [T/C] NM_006033 LIPG EXON Missense_A172V exm1386309 18 47101796 [T/C] NM_006033 LIPG EXON Missense_P210L exm1386312 18 47101838 [A/G] NM_006033 LIPG EXON Missense_R224H exm1386320 18 47107823 [A/G] NM_006033 LIPG EXON Missense_V278I exm1913592 18 47107884 [G/C] NM_006033 LIPG EXON Missense_T298S exm1386330 18 47108777 [T/C] NM_006033 LIPG EXON Missense_M361T exm1386331 18 47108803 [A/G] NM_006033 LIPG EXON Missense_V370I exm1386338 18 47109939 [A/G] NM_006033 LIPG EXON Missense_E391K exm1386340 18 47109955 [A/G] NM_006033 LIPG EXON Missense_N396S exm1386349 18 47113165 [T/C] NM_006033 LIPG EXON Missense_R476W exm-rs7240405 18 47159090 [A/G] exm-rs7241918 18 47160953 [T/G] exm-rs4939883 18 47167214 [T/C] exm1386368 18 47317912 [A/G] NM_006111 ACAA2 EXON Missense_H271Y exm1386370 18 47317968 [T/C] NM_006111 ACAA2 EXON Missense_G252D exm1386374 18 47318522 [T/C] NM_006111 ACAA2 EXON Synonymous_S251S exm1386383 18 47318659 [T/C] NM_006111 ACAA2 EXON Missense_I206V exm1386398 18 47322238 [T/C] NM_006111 ACAA2 EXON Missense_K109R exm1386409 18 47329070 [A/C] NM_006111 ACAA2 EXON Missense_G57V exm1386410 18 47329071 [G/C] NM_006111 ACAA2 EXON Missense_G57R exm1386418 18 47329223 [T/C] NM_006111 ACAA2 EXON Missense_G6D exm1386445 18 47352892 [C/G] NM_001080467 MYO5B EXON Missense_D1832E exm1386447 18 47352915 [T/A] NM_001080467 MYO5B EXON Missense_N1825Y exm1386451 18 47352977 [C/G] NM_001080467 MYO5B EXON Missense_R1804P exm-rs1893441 18 47358751 [T/C] NM_001080467 MYO5B Silent exm1386454 18 47361724 [T/C] NM_001080467 MYO5B EXON Missense_R1795Q exm1913633 18 47363125 [T/C] NM_001080467 MYO5B EXON Missense_A1757T exm2253453 18 47363210 [T/A] NM_001080467 MYO5B EXON Synonymous_L1728L exm1386464 18 47363917 [A/G] NM_001080467 MYO5B EXON Missense_V1703A exm1386482 18 47364071 [T/A] NM_001080467 MYO5B EXON Missense_Y1652N exm1386493 18 47365663 [T/C] NM_001080467 MYO5B EXON Missense_G1568D exm1386495 18 47367762 [G/C] NM_001080467 MYO5B EXON Missense_H1558Q exm2275007 18 47367799 [A/G] NM_001080467 MYO5B EXON Missense_T1546M exm1386505 18 47369693 [T/C] NM_001080467 MYO5B EXON Missense_R1510Q exm1386506 18 47369717 [A/G] NM_001080467 MYO5B EXON Missense_A1502V exm1386510 18 47369741 [A/G] NM_001080467 MYO5B EXON Missense_S1494L exm1386514 18 47373516 [T/C] NM_001080467 MYO5B EXON Missense_D1487N exm1386515 18 47373530 [T/C] NM_001080467 MYO5B EXON Missense_R1482Q exm1386521 18 47375981 [T/C] NM_001080467 MYO5B EXON Missense_K1424R exm1386523 18 47376012 [T/C] NM_001080467 MYO5B EXON Missense_E1414K exm2253454 18 47379430 [A/G] NM_001080467 MYO5B Silent exm1913652 18 47379828 [A/G] NM_001080467 MYO5B EXON Synonymous_N1404N exm1386526 18 47379895 [A/G] NM_001080467 MYO5B EXON Missense_T1382M exm1386530 18 47383204 [T/C] NM_001080467 MYO5B EXON Missense_Q1334R exm1386531 18 47383243 [T/C] NM_001080467 MYO5B EXON Missense_G1321E exm1386546 18 47390707 [A/C] NM_001080467 MYO5B EXON Missense_L1216R exm1386548 18 47390716 [T/A] NM_001080467 MYO5B EXON Missense_K1213M exm1386557 18 47402106 [A/C] NM_001080467 MYO5B EXON Missense_L1163R exm1386585 18 47406824 [T/C] NM_001080467 MYO5B EXON Missense_R1016Q exm1386586 18 47406825 [A/G] NM_001080467 MYO5B EXON Nonsense_R1016X exm1386589 18 47421325 [T/C] NM_001080467 MYO5B EXON Missense_D1011N exm1386600 18 47429022 [T/C] NM_001080467 MYO5B EXON Missense_R918H exm1386604 18 47429073 [T/C] NM_001080467 MYO5B EXON Missense_R901Q exm1386611 18 47429161 [A/G] NM_001080467 MYO5B EXON Missense_R872W exm1386618 18 47431058 [T/C] NM_001080467 MYO5B EXON Missense_R852Q exm1386626 18 47431152 [T/C] NM_001080467 MYO5B EXON Missense_K821E exm1386627 18 47431163 [A/C] NM_001080467 MYO5B EXON Missense_V817G exm1386635 18 47432860 [G/C] NM_001080467 MYO5B EXON Missense_K781N exm1386636 18 47432876 [T/C] NM_001080467 MYO5B EXON Missense_R776Q exm1386649 18 47438509 [T/C] NM_001080467 MYO5B EXON Missense_V709M exm1386650 18 47438511 [T/C] NM_001080467 MYO5B EXON Missense_R708Q exm1386667 18 47463659 [T/C] NM_001080467 MYO5B EXON Missense_M621V exm1386672 18 47463727 [A/G] NM_001080467 MYO5B EXON Missense_P598L exm1386674 18 47463734 [T/C] NM_001080467 MYO5B EXON Missense_K596E exm1386675 18 47463735 [T/G] NM_001080467 MYO5B EXON Missense_D595E exm1386684 18 47480761 [G/C] NM_001080467 MYO5B EXON Missense_D530E exm1386686 18 47480805 [T/C] NM_001080467 MYO5B EXON Missense_V516I exm1386691 18 47488689 [T/C] NM_001080467 MYO5B EXON Missense_D498N exm1386699 18 47500802 [T/C] NM_001080467 MYO5B EXON Missense_G414S exm1386705 18 47500888 [A/G] NM_001080467 MYO5B EXON Missense_S385L exm2272731 18 47502338 [T/G] NM_001080467 MYO5B Silent exm1386710 18 47506839 [T/C] NM_001080467 MYO5B EXON Missense_R344H exm1386713 18 47506918 [T/C] NM_001080467 MYO5B EXON Missense_K318E exm1386714 18 47511108 [T/C] NM_001080467 MYO5B EXON Missense_R309Q exm1386715 18 47511113 [A/C] NM_001080467 MYO5B EXON Missense_K307N exm1386729 18 47518708 [T/C] NM_001080467 MYO5B EXON Missense_G236R exm1386745 18 47563221 [T/C] NM_001080467 MYO5B EXON Missense_R152G exm1386749 18 47563299 [T/C] NM_001080467 MYO5B EXON Missense_T126A exm1386755 18 47566640 [C/G] NM_001080467 MYO5B EXON Missense_F61L exm1386756 18 47566647 [A/G] NM_001080467 MYO5B EXON Missense_L59P exm1913736 18 47566656 [A/C] NM_001080467 MYO5B EXON Missense_R56L exm1386761 18 47566678 [C/G] NM_001080467 MYO5B EXON Missense_E49Q exm1386763 18 47581638 [A/C] NM_001080467 MYO5B EXON Synonymous_T46T exm1386764 18 47581708 [T/C] NM_001080467 MYO5B EXON Missense_R23H exm1386765 18 47581748 [A/C] NM_001080467 MYO5B EXON Missense_C10G exm1386768 18 47753755 [T/G] NM_145020 CCDC11 EXON Missense_P514Q exm1913743 18 47753783 [A/G] NM_145020 CCDC11 EXON Missense_R505C exm1386770 18 47753851 [A/G] NM_145020 CCDC11 EXON Missense_M482T exm1386779 18 47765007 [A/C] NM_145020 CCDC11 EXON Nonsense_E428X exm1386780 18 47765018 [T/C] NM_145020 CCDC11 EXON Missense_E424G exm1386788 18 47769357 [T/C] NM_145020 CCDC11 EXON Missense_D376N exm1386801 18 47777214 [T/C] NM_145020 CCDC11 EXON Missense_R304G exm1386803 18 47777244 [T/C] NM_145020 CCDC11 EXON Missense_E294K exm1386808 18 47777334 [T/C] NM_145020 CCDC11 EXON Missense_A264T exm1386813 18 47777937 [A/G] NM_145020 CCDC11 EXON Missense_R231C exm1386815 18 47778013 [G/C] NM_145020 CCDC11 EXON Missense_W205C exm1386816 18 47778107 [T/C] NM_145020 CCDC11 EXON Missense_K174R exm1386817 18 47778134 [T/C] NM_145020 CCDC11 EXON Missense_R165H exm1386824 18 47787602 [T/C] NM_145020 CCDC11 EXON Missense_R102H exm1386826 18 47788367 [A/G] NM_145020 CCDC11 EXON Nonsense_R98X exm2227881 18 47788379 [T/C] NM_145020 CCDC11 EXON Missense_I94V exm1386829 18 47788424 [G/C] NM_145020 CCDC11 EXON Missense_V79L exm1386832 18 47788465 [T/C] NM_145020 CCDC11 EXON Missense_E65G exm1386833 18 47788504 [A/G] NM_145020 CCDC11 EXON Missense_A52V exm1386835 18 47788535 [A/G] NM_145020 CCDC11 EXON Missense_R42C exm1386849 18 47796089 [T/C] NM_001204139,NM_001204141,NM_015846,NM_001204143,NM_015845,NM_001204142,NM_015847,NM_001204136,NM_002384,NM_015844 MBD1,MBD1,MBD1,MBD1,MBD1,MBD1,MBD1,MBD1,MBD1,MBD1 EXON Silent,Silent,Silent,Missense_G522D,Nonsense_W557X,Silent,Silent,Nonsense_W626X,Silent,Silent exm1386855 18 47796399 [A/C] NM_001204139,NM_001204141,NM_015846,NM_001204143,NM_015845,NM_001204142,NM_015847,NM_001204136,NM_002384,NM_015844 MBD1,MBD1,MBD1,MBD1,MBD1,MBD1,MBD1,MBD1,MBD1,MBD1 EXON Silent,Silent,Silent,Silent,Silent,Missense_I545M,Silent,Silent,Silent,Silent exm1386866 18 47799255 [T/C] NM_001204139,NM_001204141,NM_015846,NM_001204143,NM_015845,NM_001204142,NM_015847,NM_001204136,NM_002384,NM_015844,NM_001204138,NM_001204137,NM_001204140,NM_001204151 MBD1,MBD1,MBD1,MBD1,MBD1,MBD1,MBD1,MBD1,MBD1,MBD1,MBD1,MBD1,MBD1,MBD1 EXON Missense_K552R,Missense_K502R,Missense_K552R,Missense_K450R,Missense_K483R,Missense_K506R,Missense_K503R,Missense_K552R,Missense_K450R,Missense_K496R,Missense_K576R,Missense_K577R,Missense_K521R,Missense_K483R exm1386877 18 47800076 [A/G] NM_001204139,NM_001204141,NM_015846,NM_001204143,NM_015845,NM_001204142,NM_015847,NM_001204136,NM_002384,NM_015844,NM_001204138,NM_001204137,NM_001204140,NM_001204151 MBD1,MBD1,MBD1,MBD1,MBD1,MBD1,MBD1,MBD1,MBD1,MBD1,MBD1,MBD1,MBD1,MBD1 EXON Missense_T435I,Missense_T385I,Missense_T435I,Missense_T379I,Missense_T412I,Missense_T435I,Missense_T386I,Missense_T435I,Missense_T379I,Missense_T379I,Missense_T459I,Missense_T460I,Missense_T404I,Missense_T412I exm1386887 18 47800179 [C/G] NM_001204139,NM_001204141,NM_015846,NM_001204143,NM_015845,NM_001204142,NM_015847,NM_001204136,NM_002384,NM_015844,NM_001204138,NM_001204137,NM_001204140,NM_001204151 MBD1,MBD1,MBD1,MBD1,MBD1,MBD1,MBD1,MBD1,MBD1,MBD1,MBD1,MBD1,MBD1,MBD1 EXON Missense_P401A,Missense_P351A,Missense_P401A,Missense_P345A,Missense_P378A,Missense_P401A,Missense_P352A,Missense_P401A,Missense_P345A,Missense_P345A,Missense_P425A,Missense_P426A,Missense_P370A,Missense_P378A exm1386900 18 47801382 [T/C] NM_001204139,NM_001204141,NM_015846,NM_001204143,NM_015845,NM_001204142,NM_015847,NM_001204136,NM_002384,NM_015844,NM_001204138,NM_001204137,NM_001204140,NM_001204151 MBD1,MBD1,MBD1,MBD1,MBD1,MBD1,MBD1,MBD1,MBD1,MBD1,MBD1,MBD1,MBD1,MBD1 EXON Missense_E315K,Missense_E266K,Missense_E315K,Missense_E315K,Silent,Missense_E315K,Missense_E266K,Missense_E315K,Missense_E315K,Missense_E315K,Missense_E340K,Missense_E340K,Missense_E340K,Silent exm1386904 18 47801500 [A/G] NM_001204139,NM_001204141,NM_015846,NM_001204143,NM_015845,NM_001204142,NM_015847,NM_001204136,NM_002384,NM_015844,NM_001204138,NM_001204137,NM_001204140,NM_001204151 MBD1,MBD1,MBD1,MBD1,MBD1,MBD1,MBD1,MBD1,MBD1,MBD1,MBD1,MBD1,MBD1,MBD1 EXON Missense_P303L,Missense_P254L,Missense_P303L,Missense_P303L,Missense_P303L,Missense_P303L,Missense_P254L,Missense_P303L,Missense_P303L,Missense_P303L,Missense_P328L,Missense_P328L,Missense_P328L,Missense_P303L exm1386909 18 47801560 [T/C] NM_001204139,NM_001204141,NM_015846,NM_001204143,NM_015845,NM_001204142,NM_015847,NM_001204136,NM_002384,NM_015844,NM_001204138,NM_001204137,NM_001204140,NM_001204151 MBD1,MBD1,MBD1,MBD1,MBD1,MBD1,MBD1,MBD1,MBD1,MBD1,MBD1,MBD1,MBD1,MBD1 EXON Missense_R283H,Missense_R234H,Missense_R283H,Missense_R283H,Missense_R283H,Missense_R283H,Missense_R234H,Missense_R283H,Missense_R283H,Missense_R283H,Missense_R308H,Missense_R308H,Missense_R308H,Missense_R283H exm1386935 18 47803308 [A/G] NM_001204139,NM_001204141,NM_015846,NM_001204143,NM_015845,NM_001204142,NM_015847,NM_001204136,NM_002384,NM_015844,NM_001204138,NM_001204137,NM_001204140,NM_001204151 MBD1,MBD1,MBD1,MBD1,MBD1,MBD1,MBD1,MBD1,MBD1,MBD1,MBD1,MBD1,MBD1,MBD1 EXON Missense_R96W,Missense_R96W,Missense_R96W,Missense_R96W,Missense_R96W,Missense_R96W,Missense_R96W,Missense_R96W,Missense_R96W,Missense_R96W,Missense_R96W,Missense_R96W,Missense_R96W,Missense_R96W exm1386997 18 47811604 [A/G] NM_014593,NM_001101654 CXXC1,CXXC1 EXON Missense_T227M,Missense_T227M exm2272674 18 47837090 [T/C] exm-rs1036935 18 47843534 [A/G] exm-rs7407129 18 47891086 [T/C] exm1387043 18 47908542 [A/G] NM_145060,NM_001039535 SKA1,SKA1 EXON Missense_H86R,Missense_H86R exm1387044 18 47908556 [A/G] NM_145060,NM_001039535 SKA1,SKA1 EXON Missense_V91I,Missense_V91I exm1387046 18 47911594 [T/G] NM_145060,NM_001039535 SKA1,SKA1 EXON Missense_G107V,Missense_G107V exm1387065 18 47918555 [T/C] NM_145060,NM_001039535 SKA1,SKA1 EXON Nonsense_R236X,Nonsense_R236X exm1387070 18 48190329 [A/G] NM_002747 MAPK4 EXON Missense_M1V exm1387073 18 48190378 [A/G] NM_002747 MAPK4 EXON Missense_G17D exm1387077 18 48190440 [A/G] NM_002747 MAPK4 EXON Missense_V38M exm1387081 18 48190491 [A/G] NM_002747 MAPK4 EXON Missense_D55N exm1387091 18 48190626 [A/G] NM_002747 MAPK4 EXON Missense_V100M exm1387094 18 48190659 [A/G] NM_002747 MAPK4 EXON Missense_D111N exm1387106 18 48190785 [A/G] NM_002747 MAPK4 EXON Missense_A153T exm1387118 18 48241573 [T/C] NM_002747 MAPK4 EXON Missense_T224M exm1387128 18 48248463 [A/G] NM_002747 MAPK4 EXON Missense_S283G exm1387134 18 48252481 [A/G] NM_002747 MAPK4 EXON Missense_D335N exm1387136 18 48252498 [A/G] NM_002747 MAPK4 EXON Missense_M340I exm1387140 18 48252533 [A/C] NM_002747 MAPK4 EXON Missense_T352K exm1387146 18 48255798 [A/C] NM_002747 MAPK4 EXON Missense_N446K exm1387164 18 48326426 [T/C] NM_001127176,NM_001127175,NM_001127174,NM_031939 MRO,MRO,MRO,MRO EXON Missense_T239A,Missense_T187A,Missense_T173A,Missense_T225A exm1387166 18 48326462 [T/C] NM_001127176,NM_001127175,NM_001127174,NM_031939 MRO,MRO,MRO,MRO EXON Missense_E227K,Missense_E175K,Missense_E161K,Missense_E213K exm1387168 18 48326494 [T/C] NM_001127176,NM_001127175,NM_001127174,NM_031939 MRO,MRO,MRO,MRO EXON Missense_Q216R,Missense_Q164R,Missense_Q150R,Missense_Q202R exm1387171 18 48327718 [A/C] NM_001127176,NM_001127175,NM_001127174,NM_031939 MRO,MRO,MRO,MRO Silent,Silent,Silent,Silent exm1913914 18 48327769 [A/G] NM_001127176,NM_001127175,NM_001127174,NM_031939 MRO,MRO,MRO,MRO EXON Nonsense_R193X,Silent,Silent,Nonsense_R179X exm1387182 18 48327868 [T/C] NM_001127176,NM_001127175,NM_001127174,NM_031939 MRO,MRO,MRO,MRO EXON Missense_D160N,Silent,Silent,Missense_D146N exm2260774 18 48328760 [T/C] NM_001127176,NM_001127175,NM_001127174,NM_031939 MRO,MRO,MRO,MRO Silent,Silent,Silent,Silent exm1387186 18 48331524 [A/G] NM_001127176,NM_001127175,NM_001127174,NM_031939 MRO,MRO,MRO,MRO EXON Synonymous_D157D,Synonymous_D157D,Synonymous_D143D,Synonymous_D143D exm1387188 18 48331553 [T/C] NM_001127176,NM_001127175,NM_001127174,NM_031939 MRO,MRO,MRO,MRO EXON Missense_T148A,Missense_T148A,Missense_T134A,Missense_T134A exm1387198 18 48331663 [T/C] NM_001127176,NM_001127175,NM_001127174,NM_031939 MRO,MRO,MRO,MRO EXON Missense_G111E,Missense_G111E,Missense_G97E,Missense_G97E exm1387207 18 48333135 [T/G] NM_001127176,NM_001127175,NM_001127174,NM_031939 MRO,MRO,MRO,MRO EXON Missense_A76D,Missense_A76D,Missense_A62D,Missense_A62D exm1387210 18 48333203 [C/G] NM_001127176,NM_001127175,NM_001127174,NM_031939 MRO,MRO,MRO,MRO EXON Missense_R53S,Missense_R53S,Missense_R39S,Missense_R39S exm1387211 18 48333222 [T/C] NM_001127176,NM_001127175,NM_001127174,NM_031939 MRO,MRO,MRO,MRO Silent,Silent,Silent,Silent exm1387215 18 48335773 [A/G] NM_001127176,NM_001127175,NM_001127174,NM_031939 MRO,MRO,MRO,MRO EXON Silent,Silent,Silent,Silent exm1387218 18 48346024 [T/G] NM_001127176,NM_001127175,NM_001127174,NM_031939 MRO,MRO,MRO,MRO EXON Missense_T23N,Missense_T23N,Silent,Silent exm-rs732528 18 48378234 [T/C] exm2272675 18 48403560 [T/G] exm1387222 18 48422179 [T/G] NM_001168335,NM_002396 ME2,ME2 EXON Silent,Silent exm1387226 18 48434457 [T/C] NM_001168335,NM_002396 ME2,ME2 EXON Nonsense_R45X,Nonsense_R45X exm2253458 18 48439270 [A/G] NM_001168335,NM_002396 ME2,ME2 EXON Synonymous_P114P,Synonymous_P114P exm1387237 18 48443877 [T/C] NM_001168335,NM_002396 ME2,ME2 EXON Missense_I210T,Missense_I210T exm1387246 18 48446899 [T/C] NM_001168335,NM_002396 ME2,ME2 EXON Nonsense_R270X,Nonsense_R270X exm1387251 18 48447090 [A/G] NM_001168335,NM_002396 ME2,ME2 EXON Missense_I302V,Missense_I302V exm1387254 18 48447462 [A/C] NM_001168335,NM_002396 ME2,ME2 EXON Missense_N321H,Missense_N321H exm1387257 18 48447538 [A/G] NM_001168335,NM_002396 ME2,ME2 EXON Missense_K346R,Missense_K346R exm1387259 18 48450483 [A/G] NM_001168335,NM_002396 ME2,ME2 EXON Missense_I358V,Missense_I358V exm1387260 18 48450501 [C/G] NM_001168335,NM_002396 ME2,ME2 EXON Missense_P364A,Missense_P364A exm1387269 18 48452228 [A/G] NM_001168335,NM_002396 ME2,ME2 EXON Missense_Q425R,Missense_Q425R exm1387270 18 48452240 [T/C] NM_001168335,NM_002396 ME2,ME2 EXON Missense_T429M,Missense_T429M exm1387282 18 48500829 [T/C] NM_018696 ELAC1 EXON Missense_R19W exm1387286 18 48510505 [A/C] NM_018696 ELAC1 EXON Missense_D66A exm1387287 18 48510555 [C/G] NM_018696 ELAC1 EXON Missense_G83R exm1387293 18 48510696 [T/C] NM_018696 ELAC1 EXON Missense_C130R exm1387297 18 48510795 [A/G] NM_018696 ELAC1 EXON Missense_N163D exm1387302 18 48510843 [T/C] NM_018696 ELAC1 EXON Missense_R179C exm1387312 18 48513231 [A/G] NM_018696 ELAC1 EXON Missense_G290S exm1387318 18 48513426 [A/G] NM_018696 ELAC1 EXON Missense_M355V exm1387332 18 48581217 [A/C] NM_005359 SMAD4 EXON Missense_T174N exm1387335 18 48581261 [T/C] NM_005359 SMAD4 EXON Missense_R189C exm1387358 18 48591957 [A/G] NM_005359 SMAD4 EXON Missense_E374K exm1387368 18 48604751 [A/G] NM_005359 SMAD4 EXON Missense_I525V exm1387381 18 48703029 [A/G] NM_016626 MEX3C EXON Missense_R558W exm1387388 18 48703215 [A/C] NM_016626 MEX3C EXON Missense_S496A exm1387398 18 48703379 [T/C] NM_016626 MEX3C EXON Missense_N441S exm2253460 18 48870202 [A/G] exm2272676 18 49217360 [T/G] exm2272733 18 49535051 [T/C] exm2272734 18 49786306 [T/C] exm2272677 18 49847408 [T/C] exm1914066 18 49867165 [A/G] NM_005215 DCC EXON Missense_N3S exm1387438 18 49867224 [T/C] NM_005215 DCC EXON Missense_F23L exm2268105 18 50253740 [A/G] NM_005215 DCC Silent exm1914086 18 50278480 [A/G] NM_005215 DCC EXON Missense_V50I exm1387443 18 50278528 [A/G] NM_005215 DCC EXON Missense_D66N exm-rs768048 18 50285398 [T/C] NM_005215 DCC Silent exm1387454 18 50432467 [A/G] NM_005215 DCC EXON Missense_T156A exm1387458 18 50432528 [A/G] NM_005215 DCC EXON Missense_N176S exm1914116 18 50451651 [A/G] NM_005215 DCC EXON Missense_N299S exm1387493 18 50592425 [A/C] NM_005215 DCC EXON Missense_N384H exm1387494 18 50592432 [A/G] NM_005215 DCC EXON Missense_R386Q exm1387495 18 50592531 [A/G] NM_005215 DCC EXON Missense_K419R exm-rs7506909 18 50620087 [A/G] NM_005215 DCC Silent exm1387498 18 50683727 [T/A] NM_005215 DCC EXON Synonymous_A421A exm1387504 18 50683828 [T/C] NM_005215 DCC EXON Missense_A455V exm1914130 18 50683844 [A/C] NM_005215 DCC EXON Missense_Q460H exm1387508 18 50683873 [A/G] NM_005215 DCC EXON Missense_G470D exm1387511 18 50705370 [A/T] NM_005215 DCC EXON Missense_Q486L exm1914137 18 50705485 [A/G] NM_005215 DCC EXON Synonymous_E524E exm1387523 18 50731688 [A/G] NM_005215 DCC EXON Missense_Q559R exm2268106 18 50768168 [A/G] NM_005215 DCC Silent exm2272735 18 50797444 [T/C] NM_005215 DCC Silent exm1387547 18 50831955 [A/C] NM_005215 DCC EXON Missense_K640T exm1387552 18 50832036 [A/G] NM_005215 DCC EXON Missense_R667H exm1387559 18 50848468 [A/G] NM_005215 DCC EXON Missense_N702S exm1387565 18 50866195 [T/G] NM_005215 DCC EXON Missense_I759M exm1387566 18 50866203 [A/T] NM_005215 DCC EXON Missense_Y762F exm1914156 18 50866233 [T/C] NM_005215 DCC EXON Missense_V772A exm2227898 18 50866236 [A/G] NM_005215 DCC EXON Missense_R773H exm1387570 18 50912508 [A/G] NM_005215 DCC EXON Missense_D819N exm1387587 18 50929215 [A/G] NM_005215 DCC EXON Missense_V963I exm1387588 18 50929218 [A/G] NM_005215 DCC EXON Missense_I964V exm1387594 18 50936935 [A/G] NM_005215 DCC EXON Missense_M1017V exm1387595 18 50936936 [T/C] NM_005215 DCC EXON Missense_M1017T exm1387602 18 50942514 [T/G] NM_005215 DCC EXON Missense_A1051S exm1387606 18 50961517 [A/G] NM_005215 DCC EXON Missense_R1056H exm1387608 18 50961532 [T/G] NM_005215 DCC EXON Missense_G1061V exm1387624 18 50985814 [T/G] NM_005215 DCC EXON Missense_S1202I exm1387626 18 50994265 [T/C] NM_005215 DCC EXON Synonymous_G1207G exm1387628 18 50994272 [A/C] NM_005215 DCC EXON Missense_T1210P exm1914183 18 50994295 [A/G] NM_005215 DCC EXON Missense_M1217I exm1387645 18 51025796 [T/C] NM_005215 DCC EXON Missense_R1343C exm2268107 18 51410222 [A/G] exm-rs2339871 18 51487466 [A/G] exm2273565 18 51681244 [T/C] NM_003927 MBD2 EXON Silent exm2272678 18 51688955 [T/C] NM_003927 MBD2 Silent exm1387678 18 51729358 [A/T] NM_003927,NM_015832 MBD2,MBD2 EXON Silent,Missense_N273Y exm1387704 18 51795960 [A/G] NM_007195 POLI EXON Missense_D15G exm1387714 18 51800403 [A/G] NM_007195 POLI EXON Missense_V117I exm1914245 18 51800442 [A/G] NM_007195 POLI EXON Missense_M130V exm2227900 18 51807244 [A/G] NM_007195 POLI EXON Missense_H256R exm1387735 18 51807260 [A/G] NM_007195 POLI EXON Missense_I261M exm1387736 18 51809236 [A/G] NM_007195 POLI EXON Missense_E276K exm1387739 18 51809264 [A/G] NM_007195 POLI EXON Missense_D285G exm1387741 18 51809277 [A/T] NM_007195 POLI EXON Missense_F289L exm1387744 18 51809324 [A/G] NM_007195 POLI EXON Missense_R305H exm1387745 18 51809353 [A/G] NM_007195 POLI EXON Missense_N315D exm1387756 18 51813752 [G/C] NM_007195 POLI EXON Missense_P390R exm1387761 18 51818259 [A/G] NM_007195 POLI EXON Missense_M419V exm1387766 18 51818379 [A/G] NM_007195 POLI EXON Missense_T459A exm1387767 18 51818389 [A/G] NM_007195 POLI EXON Missense_R462H exm1387769 18 51820030 [C/G] NM_007195 POLI EXON Missense_D472E exm1387771 18 51820035 [A/G] NM_007195 POLI EXON Missense_H474R exm1387773 18 51820070 [T/C] NM_007195 POLI EXON Missense_R486W exm1387775 18 51820107 [A/G] NM_007195 POLI EXON Missense_R498K exm1387779 18 51820209 [T/C] NM_007195 POLI EXON Missense_F532S exm1387784 18 51820365 [G/C] NM_007195 POLI EXON Missense_P584R exm1387787 18 51820571 [G/C] NM_007195 POLI EXON Missense_V653L exm1387788 18 51820592 [T/C] NM_007195 POLI EXON Missense_P660S exm1387790 18 51820637 [A/G] NM_007195 POLI EXON Missense_D675N exm1387798 18 51820805 [A/G] NM_007195 POLI EXON Missense_A731T exm1387800 18 51851090 [T/C] NM_139171 STARD6 EXON Missense_R212H exm1387805 18 51855721 [T/C] NM_139171 STARD6 EXON Missense_E159K exm1387815 18 51858156 [A/C] NM_139171 STARD6 EXON Nonsense_L114X exm1387816 18 51858160 [T/C] NM_139171 STARD6 EXON Missense_D113N exm1387818 18 51858168 [A/T] NM_139171 STARD6 EXON Missense_D110V exm2227905 18 51858193 [A/C] NM_139171 STARD6 EXON Missense_A102S exm1387821 18 51863495 [T/C] NM_139171 STARD6 EXON Synonymous_S89S exm1387823 18 51863542 [A/G] NM_139171 STARD6 EXON Missense_W74R exm1387831 18 51880889 [A/G] NM_139171 STARD6 EXON Nonsense_R19X exm2227906 18 51887025 [A/G] NM_173529 C18orf54 EXON Missense_G28D exm1387840 18 51887052 [T/C] NM_173529 C18orf54 EXON Missense_S37L exm1387850 18 51888070 [C/G] NM_173529 C18orf54 EXON Missense_T114S exm1387856 18 51888133 [A/G] NM_173529 C18orf54 EXON Missense_G135E exm1387859 18 51888169 [G/C] NM_173529 C18orf54 EXON Missense_R147P exm1387862 18 51888175 [A/G] NM_173529 C18orf54 EXON Missense_S149N exm1387863 18 51888176 [G/C] NM_173529 C18orf54 EXON Missense_S149R exm1387868 18 51888262 [T/G] NM_173529 C18orf54 EXON Missense_G178V exm1387872 18 51888316 [T/G] NM_173529 C18orf54 EXON Missense_C196F exm1387883 18 51892103 [T/C] NM_173529 C18orf54 EXON Missense_P252L exm2227909 18 51898920 [T/C] NM_173529 C18orf54 EXON Missense_R310C exm1387891 18 51898965 [T/C] NM_173529 C18orf54 EXON Nonsense_Q325X exm1387892 18 51900624 [A/G] NM_173529 C18orf54 EXON Missense_S339N exm1387898 18 51904603 [A/C] NM_173529 C18orf54 EXON Nonsense_S369X exm2227910 18 51908403 [T/C] NM_173529 C18orf54 EXON Silent exm2268152 18 51976374 [A/G] exm2260779 18 52235950 [T/C] exm1387907 18 52258548 [T/C] NM_173629 DYNAP EXON Missense_V38A exm1387909 18 52262173 [A/G] NM_173629 DYNAP EXON Missense_I47V exm1387916 18 52262275 [A/G] NM_173629 DYNAP EXON Missense_V81M exm1387920 18 52265110 [A/G] NM_173629 DYNAP EXON Missense_V123M exm1387926 18 52265204 [A/G] NM_173629 DYNAP EXON Missense_D154G exm1387929 18 52265308 [A/C] NM_173629 DYNAP EXON Missense_T189P exm1387934 18 52265365 [A/G] NM_173629 DYNAP EXON Missense_D208N exm2272679 18 52327216 [T/G] exm1387945 18 52546642 [T/C] NM_004163 RAB27B EXON Missense_F66L exm1387951 18 52551598 [A/G] NM_004163 RAB27B EXON Missense_A92T exm1387957 18 52555328 [T/G] NM_004163 RAB27B EXON Missense_R149L exm1387961 18 52571597 [A/G] NM_001143829,NM_025214 CCDC68,CCDC68 EXON Missense_R334W,Missense_R334W exm1387972 18 52585211 [T/C] NM_001143829,NM_025214 CCDC68,CCDC68 EXON Missense_N269S,Missense_N269S exm1387976 18 52586545 [A/G] NM_001143829,NM_025214 CCDC68,CCDC68 EXON Missense_V249A,Missense_V249A exm1387979 18 52586576 [A/G] NM_001143829,NM_025214 CCDC68,CCDC68 EXON Missense_L239F,Missense_L239F exm1914337 18 52596055 [T/C] NM_001143829,NM_025214 CCDC68,CCDC68 EXON Missense_K220R,Missense_K220R exm1387982 18 52596113 [T/C] NM_001143829,NM_025214 CCDC68,CCDC68 EXON Missense_E201K,Missense_E201K exm1387985 18 52604083 [T/C] NM_001143829,NM_025214 CCDC68,CCDC68 EXON Missense_D151G,Missense_D151G exm1914342 18 52604116 [A/G] NM_001143829,NM_025214 CCDC68,CCDC68 EXON Missense_T140M,Missense_T140M exm1387990 18 52605188 [T/C] NM_001143829,NM_025214 CCDC68,CCDC68 EXON Synonymous_K115K,Synonymous_K115K exm1387992 18 52605223 [C/G] NM_001143829,NM_025214 CCDC68,CCDC68 EXON Missense_E104Q,Missense_E104Q exm1387994 18 52605276 [T/C] NM_001143829,NM_025214 CCDC68,CCDC68 EXON Missense_C86Y,Missense_C86Y exm1387995 18 52605279 [T/C] NM_001143829,NM_025214 CCDC68,CCDC68 EXON Missense_C85Y,Missense_C85Y exm1388007 18 52608292 [T/A] NM_001143829,NM_025214 CCDC68,CCDC68 EXON Missense_I47N,Missense_I47N exm-rs12966547 18 52752017 [A/G] exm-rs9951150 18 52821124 [A/G] exm-rs1970671 18 52863108 [C/G] exm1388032 18 52899812 [A/G] NM_001243226,NM_001243233,NM_001243231,NM_001243227,NM_003199,NM_001243232,NM_001243236,NM_001243230,NM_001243235,NM_001243234,NM_001243228,NM_001083962 TCF4,TCF4,TCF4,TCF4,TCF4,TCF4,TCF4,TCF4,TCF4,TCF4,TCF4,TCF4 EXON Missense_T628M,Missense_T396M,Missense_T484M,Missense_T502M,Missense_T526M,Missense_T455M,Missense_T366M,Missense_T523M,Missense_T366M,Missense_T366M,Missense_T532M,Missense_T526M exm1388038 18 52901911 [T/C] NM_001243226,NM_001243233,NM_001243231,NM_001243227,NM_003199,NM_001243232,NM_001243236,NM_001243230,NM_001243235,NM_001243234,NM_001243228,NM_001083962 TCF4,TCF4,TCF4,TCF4,TCF4,TCF4,TCF4,TCF4,TCF4,TCF4,TCF4,TCF4 EXON Missense_G554R,Missense_G322R,Missense_G410R,Missense_G428R,Missense_G452R,Missense_G381R,Missense_G292R,Missense_G449R,Missense_G292R,Missense_G292R,Missense_G458R,Missense_G452R exm1388049 18 52928743 [A/G] NM_001243226,NM_001243233,NM_001243231,NM_001243227,NM_003199,NM_001243232,NM_001243236,NM_001243230,NM_001243235,NM_001243234,NM_001243228,NM_001083962 TCF4,TCF4,TCF4,TCF4,TCF4,TCF4,TCF4,TCF4,TCF4,TCF4,TCF4,TCF4 EXON Missense_A417V,Missense_A185V,Missense_A273V,Missense_A291V,Missense_A315V,Missense_A244V,Missense_A155V,Missense_A313V,Missense_A155V,Missense_A155V,Missense_A321V,Missense_A315V exm2253468 18 53010332 [T/C] NM_001243226,NM_001243233,NM_001243231,NM_001243227,NM_003199,NM_001243232,NM_001243230,NM_001243228,NM_001083962 TCF4,TCF4,TCF4,TCF4,TCF4,TCF4,TCF4,TCF4,TCF4 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm-rs17594526 18 53058238 [T/C] NM_001243226,NM_001243233,NM_001243231,NM_001243227,NM_003199,NM_001243232,NM_001243230,NM_001243228,NM_001083962 TCF4,TCF4,TCF4,TCF4,TCF4,TCF4,TCF4,TCF4,TCF4 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm-rs11152369 18 53066328 [A/C] NM_001243226,NM_001243233,NM_001243231,NM_001243227,NM_003199,NM_001243232,NM_001243230,NM_001243228,NM_001083962 TCF4,TCF4,TCF4,TCF4,TCF4,TCF4,TCF4,TCF4,TCF4 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm1388074 18 53128285 [T/C] NM_001243226,NM_001243231,NM_001243227,NM_003199,NM_001243230,NM_001243228,NM_001083962 TCF4,TCF4,TCF4,TCF4,TCF4,TCF4,TCF4 EXON Missense_N192S,Missense_N48S,Missense_N66S,Missense_N90S,Missense_N88S,Missense_N90S,Missense_N90S exm-rs17512836 18 53194961 [T/C] NM_001243226,NM_001243227,NM_003199,NM_001243230,NM_001243228,NM_001083962 TCF4,TCF4,TCF4,TCF4,TCF4,TCF4 Silent,Silent,Silent,Silent,Silent,Silent exm-rs613872 18 53210302 [T/G] NM_001243226,NM_001243227,NM_003199,NM_001243230,NM_001243228,NM_001083962 TCF4,TCF4,TCF4,TCF4,TCF4,TCF4 Silent,Silent,Silent,Silent,Silent,Silent exm2268153 18 53296927 [A/G] NM_001243226 TCF4 Silent exm2268108 18 53640779 [A/G] exm-rs1978503 18 53664282 [A/G] exm-rs12604483 18 53855525 [T/A] exm2268109 18 54117145 [A/G] exm2253474 18 54283543 [G/C] NR_024546,NM_004786 TXNL1,TXNL1 EXON Silent,Synonymous_L165L exm1388100 18 54283543 [G/C] NR_024546,NM_004786 TXNL1,TXNL1 EXON Silent,Synonymous_L165L exm1388105 18 54291538 [T/G] NR_024546,NM_004786 TXNL1,TXNL1 EXON Silent,Missense_T117K exm1388140 18 54358999 [A/G] NM_052834,NM_015285 WDR7,WDR7 EXON Missense_N306S,Missense_N306S exm1388145 18 54361875 [A/G] NM_052834,NM_015285 WDR7,WDR7 EXON Missense_R331Q,Missense_R331Q exm1914567 18 54363541 [G/C] NM_052834,NM_015285 WDR7,WDR7 EXON Missense_V476L,Missense_V476L exm2253476 18 54396215 [A/G] NM_052834,NM_015285 WDR7,WDR7 Silent,Silent exm1388173 18 54423856 [T/G] NM_052834,NM_015285 WDR7,WDR7 EXON Missense_A678S,Missense_A678S exm1388183 18 54423971 [T/C] NM_052834,NM_015285 WDR7,WDR7 EXON Missense_S716F,Missense_S716F exm1388191 18 54424031 [A/G] NM_052834,NM_015285 WDR7,WDR7 EXON Missense_G736E,Missense_G736E exm1914575 18 54424104 [T/C] NM_052834,NM_015285 WDR7,WDR7 EXON Synonymous_D760D,Synonymous_D760D exm1388197 18 54424198 [G/C] NM_052834,NM_015285 WDR7,WDR7 EXON Missense_E792Q,Missense_E792Q exm1388200 18 54424267 [A/G] NM_052834,NM_015285 WDR7,WDR7 EXON Missense_V815I,Missense_V815I exm1388204 18 54424321 [A/G] NM_052834,NM_015285 WDR7,WDR7 EXON Missense_V833I,Missense_V833I exm1388215 18 54424504 [A/G] NM_052834,NM_015285 WDR7,WDR7 EXON Missense_I894V,Missense_I894V exm1388217 18 54424544 [T/C] NM_052834,NM_015285 WDR7,WDR7 EXON Missense_A907V,Missense_A907V exm1388232 18 54448870 [T/C] NM_052834,NM_015285 WDR7,WDR7 EXON Missense_I1025T,Missense_I1058T exm1388239 18 54483300 [T/G] NM_052834,NM_015285 WDR7,WDR7 EXON Missense_A1044S,Missense_A1077S exm2227924 18 54547241 [G/C] NM_052834,NM_015285 WDR7,WDR7 EXON Missense_A1091G,Missense_A1124G exm1388250 18 54547395 [T/C] NM_052834,NM_015285 WDR7,WDR7 EXON Synonymous_T1142T,Synonymous_T1175T exm1388255 18 54591219 [A/G] NM_052834,NM_015285 WDR7,WDR7 EXON Missense_R1165Q,Missense_R1198Q exm1388256 18 54591238 [G/C] NM_052834,NM_015285 WDR7,WDR7 EXON Synonymous_L1171L,Synonymous_L1204L exm1388277 18 54606579 [T/C] NM_052834,NM_015285 WDR7,WDR7 EXON Missense_L1307S,Missense_L1340S exm1388279 18 54606602 [G/C] NM_052834,NM_015285 WDR7,WDR7 EXON Missense_E1315Q,Missense_E1348Q exm1388289 18 54694242 [T/C] NM_052834,NM_015285 WDR7,WDR7 EXON Missense_T1393M,Missense_T1426M exm-rs1557351 18 54752314 [T/C] exm2268111 18 54976972 [A/G] exm-rs1120787 18 54983554 [T/G] exm1388318 18 55020141 [G/C] NM_015879 ST8SIA3 EXON Missense_L22V exm1388325 18 55021725 [A/C] NM_015879 ST8SIA3 EXON Missense_K91T exm2227926 18 55024321 [A/T] NM_015879 ST8SIA3 EXON Missense_N160K exm2272738 18 55091293 [T/C] exm1388394 18 55143670 [A/G] NM_004852 ONECUT2 EXON Synonymous_A410A exm1388406 18 55143924 [T/C] NM_004852 ONECUT2 EXON Missense_S495L exm-rs8089950 18 55179142 [T/G] exm1388422 18 55221518 [T/C] NM_001012515,NM_000140 FECH,FECH EXON Missense_E357K,Missense_E351K exm1388424 18 55221568 [A/G] NM_001012515,NM_000140 FECH,FECH EXON Missense_P340L,Missense_P334L exm1388430 18 55222169 [T/C] NM_001012515,NM_000140 FECH,FECH EXON Missense_D280N,Missense_D274N exm1388433 18 55226380 [T/C] NM_001012515,NM_000140 FECH,FECH EXON Missense_M273I,Missense_M267I exm1388449 18 55238702 [T/C] NM_001012515,NM_000140 FECH,FECH EXON Missense_G135R,Missense_G129R exm1388451 18 55238725 [T/C] NM_001012515,NM_000140 FECH,FECH EXON Missense_E127G,Missense_E121G exm1388460 18 55240505 [T/C] NM_001012515,NM_000140 FECH,FECH EXON Missense_R102Q,Missense_R96Q exm1388465 18 55247314 [G/C] NM_001012515,NM_000140 FECH,FECH EXON Missense_P62R,Missense_P62R exm1388467 18 55247336 [A/C] NM_001012515,NM_000140 FECH,FECH EXON Missense_G55C,Missense_G55C exm1388469 18 55247359 [C/G] NM_001012515,NM_000140 FECH,FECH EXON Missense_T47R,Missense_T47R exm1388470 18 55247360 [T/C] NM_001012515,NM_000140 FECH,FECH EXON Missense_T47A,Missense_T47A exm1914704 18 55269699 [T/C] NM_004539 NARS EXON Missense_N468S exm1388505 18 55273102 [T/C] NM_004539 NARS EXON Missense_Y413C exm1388506 18 55273127 [T/C] NM_004539 NARS EXON Missense_V405I exm1388510 18 55273151 [T/C] NM_004539 NARS EXON Missense_I397V exm1388517 18 55273918 [T/G] NM_004539 NARS EXON Missense_D356A exm1388534 18 55274824 [T/C] NM_004539 NARS EXON Missense_N218S exm1914722 18 55280843 [A/G] NM_004539 NARS EXON Missense_R138C exm1388542 18 55280864 [A/C] NM_004539 NARS EXON Missense_F131V exm1388550 18 55283201 [A/T] NM_004539 NARS EXON Missense_M34L exm1388554 18 55287858 [A/C] NM_004539 NARS EXON Missense_E12D exm1388566 18 55315751 [G/C] NM_001242804,NM_005603 LOC100505549,ATP8B1 EXON Silent,Missense_T1242S exm1388585 18 55317676 [T/C] NM_001242804,NM_005603 LOC100505549,ATP8B1 EXON Silent,Missense_A1152T exm1388599 18 55319822 [A/C] NM_001242804,NM_005603 LOC100505549,ATP8B1 EXON Silent,Missense_L1052R exm1388604 18 55319918 [A/G] NM_001242804,NM_005603 LOC100505549,ATP8B1 EXON Silent,Missense_I1020T exm1388612 18 55322502 [T/C] NM_001242804,NM_005603 LOC100505549,ATP8B1 EXON Silent,Missense_R952Q exm1388616 18 55322568 [T/C] NM_001242804,NM_005603 LOC100505549,ATP8B1 EXON Silent,Missense_R930Q exm1388618 18 55322586 [T/C] NM_001242804,NM_005603 LOC100505549,ATP8B1 EXON Silent,Missense_Y924C exm1388625 18 55328567 [T/C] NM_001242804,NM_005603 LOC100505549,ATP8B1 EXON Silent,Missense_R849Q exm1388628 18 55328671 [A/C] NM_001242804,NM_005603 LOC100505549,ATP8B1 EXON Silent,Missense_K814N exm1914752 18 55329769 [T/G] NM_001242804,NM_005603 LOC100505549,ATP8B1 EXON Silent,Missense_E788D exm1388647 18 55336626 [A/G] NM_005603 ATP8B1 EXON Missense_M674T exm1388648 18 55336665 [A/G] NM_005603 ATP8B1 EXON Missense_I661T exm1388652 18 55338740 [T/C] NM_005603 ATP8B1 EXON Missense_R631Q exm1388657 18 55342146 [T/C] NM_005603 ATP8B1 EXON Missense_S580N exm1388659 18 55342174 [T/C] NM_005603 ATP8B1 EXON Missense_A571T exm1388667 18 55351400 [A/G] NM_005603 ATP8B1 EXON Missense_Y500H exm1388675 18 55355674 [T/G] NM_005603 ATP8B1 EXON Missense_E429A exm1388677 18 55359082 [T/C] NM_005603 ATP8B1 EXON Missense_I393V exm2227929 18 55359108 [T/C] NM_005603 ATP8B1 EXON Missense_R384H exm1388680 18 55359187 [T/C] NM_005603 ATP8B1 EXON Missense_G358S exm1388686 18 55362430 [T/A] NM_005603 ATP8B1 EXON Missense_F305I exm1388700 18 55365047 [T/C] NM_005603 ATP8B1 EXON Missense_K203E exm1388716 18 55373793 [T/C] NM_005603 ATP8B1 EXON Missense_D70N exm1388719 18 55373817 [A/G] NM_005603 ATP8B1 EXON Missense_C62R exm-rs7236632 18 55434202 [A/G] NM_005603 ATP8B1 Silent exm-rs10503019 18 55454377 [A/G] NM_005603 ATP8B1 Silent exm2272681 18 55654318 [T/C] exm1388732 18 55711905 [T/C] NM_001144967,NM_015277,NM_001243960 NEDD4L,NEDD4L,NEDD4L EXON Missense_L5F,Missense_L5F,Missense_L5F exm2272739 18 55768995 [T/C] NM_001144967,NM_015277,NM_001243960,NM_001144964 NEDD4L,NEDD4L,NEDD4L,NEDD4L Silent,Silent,Silent,Silent exm1388740 18 55816791 [A/G] NM_001144967,NM_015277,NM_001243960,NM_001144964,NM_001144968,NM_001144969,NM_001144965,NM_001144971 NEDD4L,NEDD4L,NEDD4L,NEDD4L,NEDD4L,NEDD4L,NEDD4L,NEDD4L EXON Silent,Silent,Silent,Silent,Synonymous_Q8Q,Synonymous_Q8Q,Silent,Silent exm2272682 18 55822713 [T/C] NM_001144967,NM_015277,NM_001243960,NM_001144964,NM_001144968,NM_001144969,NM_001144965,NM_001144971 NEDD4L,NEDD4L,NEDD4L,NEDD4L,NEDD4L,NEDD4L,NEDD4L,NEDD4L Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm1388756 18 55912699 [A/G] NM_001144967,NM_015277,NM_001243960,NM_001144964,NM_001144968,NM_001144969,NM_001144965,NM_001144971,NM_001144970,NM_001144966 NEDD4L,NEDD4L,NEDD4L,NEDD4L,NEDD4L,NEDD4L,NEDD4L,NEDD4L,NEDD4L,NEDD4L EXON Missense_N55D,Missense_N55D,Missense_N55D,Silent,Missense_N47D,Missense_N47D,Silent,Silent,Silent,Silent exm1388768 18 55992249 [T/A] NM_001144967,NM_015277,NM_001243960,NM_001144964,NM_001144968,NM_001144969,NM_001144965,NM_001144971,NM_001144970,NM_001144966 NEDD4L,NEDD4L,NEDD4L,NEDD4L,NEDD4L,NEDD4L,NEDD4L,NEDD4L,NEDD4L,NEDD4L EXON Missense_S179T,Missense_S179T,Missense_S179T,Missense_S58T,Missense_S171T,Missense_S171T,Missense_S58T,Missense_S58T,Missense_S58T,Missense_S58T exm1388775 18 55996244 [T/C] NM_001144967,NM_015277,NM_001243960,NM_001144964,NM_001144968,NM_001144969,NM_001144965,NM_001144971,NM_001144970,NM_001144966 NEDD4L,NEDD4L,NEDD4L,NEDD4L,NEDD4L,NEDD4L,NEDD4L,NEDD4L,NEDD4L,NEDD4L EXON Missense_S233L,Missense_S233L,Missense_S233L,Missense_S112L,Missense_S225L,Missense_S225L,Missense_S112L,Missense_S112L,Missense_S112L,Missense_S112L exm1388778 18 55996337 [C/G] NM_001144967,NM_015277,NM_001243960,NM_001144964,NM_001144968,NM_001144969,NM_001144965,NM_001144971,NM_001144970,NM_001144966 NEDD4L,NEDD4L,NEDD4L,NEDD4L,NEDD4L,NEDD4L,NEDD4L,NEDD4L,NEDD4L,NEDD4L EXON Missense_S264W,Missense_S264W,Missense_S264W,Missense_S143W,Missense_S256W,Missense_S256W,Missense_S143W,Missense_S143W,Missense_S143W,Missense_S143W exm1388804 18 56010163 [A/G] NM_001144967,NM_015277,NM_001243960,NM_001144964,NM_001144968,NM_001144969,NM_001144965,NM_001144971,NM_001144970,NM_001144966 NEDD4L,NEDD4L,NEDD4L,NEDD4L,NEDD4L,NEDD4L,NEDD4L,NEDD4L,NEDD4L,NEDD4L EXON Missense_R468Q,Missense_R448Q,Missense_R404Q,Missense_R347Q,Missense_R460Q,Missense_R440Q,Missense_R347Q,Missense_R327Q,Missense_R327Q,Missense_R347Q exm-rs8099014 18 56109859 [A/C] exm1388856 18 56149099 [T/C] NM_052947 ALPK2 EXON Missense_I2157V exm1388861 18 56149140 [A/G] NM_052947 ALPK2 EXON Missense_P2143L exm1388864 18 56149233 [A/G] NM_052947 ALPK2 EXON Missense_I2112T exm1388871 18 56171195 [A/G] NM_052947 ALPK2 EXON Missense_T2072I exm1388887 18 56184198 [A/G] NM_052947 ALPK2 EXON Missense_A1961V exm1388891 18 56184297 [T/C] NM_052947 ALPK2 EXON Missense_G1928E exm1388895 18 56184336 [T/C] NM_052947 ALPK2 EXON Missense_R1915H exm1388896 18 56184343 [A/G] NM_052947 ALPK2 EXON Missense_R1913C exm1388897 18 56184404 [A/C] NM_052947 ALPK2 EXON Missense_E1892D exm1388898 18 56191053 [A/G] NM_052947 ALPK2 EXON Missense_R1884C exm1388899 18 56191073 [A/G] NM_052947 ALPK2 EXON Missense_V1877A exm2227932 18 56191239 [C/G] NM_052947 ALPK2 EXON Missense_Q1853E exm1388904 18 56191247 [A/G] NM_052947 ALPK2 EXON Missense_P1850L exm1388916 18 56202120 [A/G] NM_052947 ALPK2 EXON Missense_H1767Y exm1388919 18 56202231 [T/C] NM_052947 ALPK2 EXON Missense_K1730E exm1388921 18 56202284 [T/C] NM_052947 ALPK2 EXON Missense_K1712R exm1388926 18 56202338 [T/C] NM_052947 ALPK2 EXON Missense_R1694Q exm1388934 18 56202470 [A/G] NM_052947 ALPK2 EXON Missense_A1650V exm1388939 18 56202683 [T/C] NM_052947 ALPK2 EXON Missense_Q1579R exm1388941 18 56202690 [T/C] NM_052947 ALPK2 EXON Missense_K1577E exm1388956 18 56203067 [A/G] NM_052947 ALPK2 EXON Missense_I1451T exm2275010 18 56203073 [A/G] NM_052947 ALPK2 EXON Missense_P1449L exm1388960 18 56203098 [T/C] NM_052947 ALPK2 EXON Missense_M1441V exm1388965 18 56203136 [T/C] NM_052947 ALPK2 EXON Missense_Q1428R exm1388967 18 56203146 [T/C] NM_052947 ALPK2 EXON Missense_T1425A exm1388973 18 56203257 [A/T] NM_052947 ALPK2 EXON Missense_F1388I exm1914966 18 56203346 [G/C] NM_052947 ALPK2 EXON Nonsense_S1358X exm1914967 18 56203365 [A/G] NM_052947 ALPK2 EXON Missense_S1352P exm1388979 18 56203428 [A/G] NM_052947 ALPK2 EXON Missense_R1331W exm1388986 18 56203629 [T/C] NM_052947 ALPK2 EXON Missense_G1264S exm1388987 18 56203630 [G/C] NM_052947 ALPK2 EXON Missense_D1263E exm1388989 18 56203682 [T/G] NM_052947 ALPK2 EXON Missense_S1246Y exm1388991 18 56203788 [T/C] NM_052947 ALPK2 EXON Missense_V1211I exm1388998 18 56203898 [T/G] NM_052947 ALPK2 EXON Missense_H1174P exm1389000 18 56203904 [A/G] NM_052947 ALPK2 EXON Missense_T1172M exm1389001 18 56203908 [T/G] NM_052947 ALPK2 EXON Missense_P1171T exm1389004 18 56203944 [T/C] NM_052947 ALPK2 EXON Missense_T1159A exm1389005 18 56203952 [G/C] NM_052947 ALPK2 EXON Missense_S1156T exm1389006 18 56203977 [C/G] NM_052947 ALPK2 EXON Missense_L1148V exm1389018 18 56204231 [A/C] NM_052947 ALPK2 EXON Missense_G1063V exm1389022 18 56204294 [T/C] NM_052947 ALPK2 EXON Missense_R1042H exm1389043 18 56204489 [C/G] NM_052947 ALPK2 EXON Missense_S977T exm1389052 18 56204671 [T/A] NM_052947 ALPK2 EXON Missense_N916K exm1389056 18 56204747 [A/G] NM_052947 ALPK2 EXON Missense_T891I exm1389062 18 56204832 [A/G] NM_052947 ALPK2 EXON Missense_F863L exm1389064 18 56204862 [A/G] NM_052947 ALPK2 EXON Missense_C853R exm1389067 18 56204932 [T/G] NM_052947 ALPK2 EXON Missense_K829N exm1389069 18 56204943 [T/G] NM_052947 ALPK2 EXON Missense_P826T exm1389073 18 56204991 [T/C] NM_052947 ALPK2 EXON Missense_G810S exm1389079 18 56205126 [A/G] NM_052947 ALPK2 EXON Missense_R765C exm1389080 18 56205134 [T/C] NM_052947 ALPK2 EXON Missense_K762R exm1389083 18 56205262 [A/C] NM_052947 ALPK2 EXON Missense_H719Q exm1389098 18 56246389 [A/G] NM_052947 ALPK2 EXON Missense_P540L exm1389101 18 56246437 [T/C] NM_052947 ALPK2 EXON Missense_D524G exm1389105 18 56246450 [T/C] NM_052947 ALPK2 EXON Missense_V520M exm1914977 18 56246537 [T/C] NM_052947 ALPK2 EXON Missense_V491I exm1389109 18 56246639 [A/C] NM_052947 ALPK2 EXON Missense_A457S exm1389121 18 56246818 [A/G] NM_052947 ALPK2 EXON Missense_T397I exm1389131 18 56246866 [A/G] NM_052947 ALPK2 EXON Missense_M381T exm1389133 18 56246930 [T/C] NM_052947 ALPK2 EXON Missense_D360N exm1389140 18 56247050 [T/C] NM_052947 ALPK2 EXON Missense_E320K exm1389141 18 56247116 [A/G] NM_052947 ALPK2 EXON Nonsense_Q298X exm1389143 18 56247152 [A/C] NM_052947 ALPK2 EXON Missense_G286C exm1389148 18 56247235 [T/C] NM_052947 ALPK2 EXON Missense_R258H exm1389160 18 56247440 [T/G] NM_052947 ALPK2 EXON Missense_P190T exm1389166 18 56247551 [T/C] NM_052947 ALPK2 EXON Missense_I153V exm1389170 18 56247600 [A/C] NM_052947 ALPK2 EXON Missense_R136S exm1389172 18 56247706 [A/G] NM_052947 ALPK2 EXON Missense_S101F exm1389182 18 56278944 [A/G] NM_052947 ALPK2 EXON Missense_A29V exm1389186 18 56278998 [A/G] NM_052947 ALPK2 EXON Missense_P11L exm1389188 18 56279025 [T/G] NM_052947 ALPK2 EXON Missense_K2T exm1389192 18 56348411 [C/G] NM_173844,NM_006785 MALT1,MALT1 EXON Missense_D73E,Missense_D73E exm2268154 18 56362913 [A/G] NM_173844,NM_006785 MALT1,MALT1 Silent,Silent exm1389198 18 56363667 [A/G] NM_173844,NM_006785 MALT1,MALT1 EXON Missense_R149Q,Missense_R149Q exm1389206 18 56367823 [A/G] NM_173844,NM_006785 MALT1,MALT1 EXON Missense_R217G,Missense_R217G exm1389209 18 56376637 [A/G] NM_173844,NM_006785 MALT1,MALT1 EXON Missense_K226R,Missense_K226R exm1389223 18 56390281 [A/G] NM_173844,NM_006785 MALT1,MALT1 EXON Synonymous_A329A,Synonymous_A340A exm1389227 18 56400644 [T/C] NM_173844,NM_006785 MALT1,MALT1 EXON Missense_A402V,Missense_A413V exm1389246 18 56412907 [A/G] NM_173844,NM_006785 MALT1,MALT1 EXON Missense_I630V,Missense_I641V exm1389254 18 56414794 [T/C] NM_173844,NM_006785 MALT1,MALT1 EXON Missense_M721T,Missense_M732T exm1389263 18 56414971 [G/C] NM_173844,NM_006785 MALT1,MALT1 EXON Missense_A780G,Missense_A791G exm2272683 18 56544825 [T/C] NM_018181 ZNF532 Silent exm1389294 18 56586019 [T/C] NM_018181 ZNF532 EXON Missense_S167L exm1389297 18 56586091 [T/C] NM_018181 ZNF532 EXON Missense_T191M exm1389323 18 56586573 [A/G] NM_018181 ZNF532 EXON Missense_A352T exm1389361 18 56587802 [A/C] NM_018181 ZNF532 EXON Missense_E761D exm1389396 18 56648835 [A/G] NM_018181 ZNF532 EXON Missense_K1133E exm1389446 18 56892775 [C/G] NM_002091,NM_001012512,NM_001012513 GRP,GRP,GRP EXON Missense_R64T,Missense_R64T,Missense_R64T exm1389451 18 56892913 [T/C] NM_002091,NM_001012512,NM_001012513 GRP,GRP,GRP EXON Missense_S110L,Missense_S110L,Missense_S110L exm-IND18-55048647 18 56897668 [D/I] NM_002091,NM_001012512,NM_001012513 GRP,GRP,GRP EXON exm1915121 18 56936667 [T/G] NM_013435 RAX EXON Missense_L204M exm1389493 18 56940291 [T/G] NM_013435 RAX EXON Missense_T50P exm1389494 18 56940307 [T/G] NM_013435 RAX EXON Missense_D44E exm1389499 18 56963997 [T/C] NM_181654 CPLX4 EXON Missense_K139R exm1389504 18 56964093 [T/C] NM_181654 CPLX4 EXON Missense_R107Q exm1389506 18 56964146 [T/A] NM_181654 CPLX4 EXON Missense_D89E exm2253484 18 56967239 [A/G] NM_181654 CPLX4 Silent exm1389522 18 56998735 [A/G] NM_005570 LMAN1 EXON Missense_P471S exm1389526 18 57000333 [T/C] NM_005570 LMAN1 EXON Missense_Q455R exm1389528 18 57000378 [T/C] NM_005570 LMAN1 EXON Missense_K440R exm1389541 18 57006184 [T/C] NM_005570 LMAN1 EXON Synonymous_A319A exm1389545 18 57013249 [T/C] NM_005570 LMAN1 EXON Missense_K286R exm1389548 18 57014746 [A/G] NM_005570 LMAN1 EXON Missense_P274L exm1389556 18 57020435 [A/G] NM_005570 LMAN1 EXON Missense_T213I exm1389557 18 57020468 [T/C] NM_005570 LMAN1 EXON Missense_R202Q exm1389580 18 57026436 [T/C] NM_005570 LMAN1 EXON Missense_R14Q exm1389581 18 57026439 [A/G] NM_005570 LMAN1 EXON Missense_V13A exm1389596 18 57103297 [T/G] NM_133459 CCBE1 EXON Missense_K355T exm1389597 18 57103358 [A/G] NM_133459 CCBE1 EXON Missense_F335L exm1389598 18 57103372 [T/C] NM_133459 CCBE1 EXON Missense_G330E exm2253485 18 57105364 [T/C] NM_133459 CCBE1 EXON Synonymous_A322A exm1389609 18 57106922 [T/C] NM_133459 CCBE1 EXON Missense_R301Q exm1389610 18 57106955 [A/G] NM_133459 CCBE1 EXON Missense_P290L exm1389619 18 57115290 [T/C] NM_133459 CCBE1 EXON Missense_T234A exm1389629 18 57122180 [T/C] NM_133459 CCBE1 EXON Missense_H186R exm1915193 18 57133983 [A/G] NM_133459 CCBE1 EXON Missense_P181S exm1389630 18 57133990 [T/G] NM_133459 CCBE1 EXON Missense_D178E exm1389633 18 57134025 [A/G] NM_133459 CCBE1 EXON Missense_R167W exm1389638 18 57134064 [A/C] NM_133459 CCBE1 EXON Missense_L154V exm1389639 18 57134093 [A/G] NM_133459 CCBE1 EXON Missense_T144M exm1389642 18 57136725 [T/C] NM_133459 CCBE1 EXON Missense_R127Q exm1915198 18 57136783 [A/G] NM_133459 CCBE1 EXON Nonsense_R108X exm1389649 18 57136795 [T/C] NM_133459 CCBE1 EXON Missense_D104N exm2272740 18 57246293 [T/G] NM_133459 CCBE1 Silent exm1389669 18 57364452 [T/G] NM_133459 CCBE1 EXON Missense_D41E exm2272684 18 57433921 [T/C] exm-rs8093763 18 57503378 [A/G] exm2272741 18 57653858 [T/C] exm-rs12957347 18 57751014 [T/C] exm-rs571312 18 57839769 [A/C] exm-rs17782313 18 57851097 [T/C] exm-rs10871777 18 57851763 [A/G] exm-rs489693 18 57882787 [A/C] exm-rs12970134 18 57884750 [A/G] exm1915230 18 58038777 [T/A] NM_005912 MC4R EXON Missense_I269N exm1389707 18 58038832 [T/G] NM_005912 MC4R EXON Missense_I251L exm1389708 18 58038864 [T/C] NM_005912 MC4R EXON Missense_N240S exm2253487 18 58038893 [A/G] NM_005912 MC4R EXON Synonymous_P230P exm1389709 18 58038893 [A/G] NM_005912 MC4R EXON Synonymous_P230P exm1389710 18 58038906 [A/G] NM_005912 MC4R EXON Missense_I226T exm1389713 18 58038964 [C/G] NM_005912 MC4R EXON Missense_L207V exm1389714 18 58038977 [T/G] NM_005912 MC4R EXON Missense_F202L exm1389720 18 58039060 [T/C] NM_005912 MC4R EXON Missense_A175T exm1389727 18 58039173 [A/G] NM_005912 MC4R EXON Missense_I137T exm1389729 18 58039203 [A/G] NM_005912 MC4R EXON Missense_S127L exm1389741 18 58039473 [A/T] NM_005912 MC4R EXON Missense_D37V exm1389742 18 58039478 [T/G] NM_005912 MC4R EXON Nonsense_Y35X exm-rs11878133 18 58067037 [T/C] exm-rs4257308 18 58109190 [T/C] exm2253488 18 58177124 [T/G] exm2268113 18 58786362 [A/G] exm2272742 18 58813718 [T/C] exm-rs2159594 18 59048700 [A/C] exm1389758 18 59157933 [A/C] NM_031891 CDH20 EXON Missense_D49E exm1389759 18 59157941 [A/G] NM_031891 CDH20 EXON Missense_Q52R exm1389762 18 59158014 [A/C] NM_031891 CDH20 EXON Missense_D76E exm1389771 18 59166503 [A/G] NM_031891 CDH20 EXON Missense_D111N exm1389774 18 59166536 [A/C] NM_031891 CDH20 EXON Missense_L122I exm2253491 18 59167623 [T/C] NM_031891 CDH20 EXON Synonymous_S183S exm1389781 18 59167624 [A/G] NM_031891 CDH20 EXON Missense_V184I exm1915267 18 59167690 [A/G] NM_031891 CDH20 EXON Missense_S206G exm1389804 18 59174759 [A/C] NM_031891 CDH20 EXON Missense_P328H exm1389806 18 59174762 [A/G] NM_031891 CDH20 EXON Missense_N329S exm1389815 18 59195294 [A/G] NM_031891 CDH20 EXON Missense_Q371R exm1389819 18 59195353 [C/G] NM_031891 CDH20 EXON Missense_P391A exm1389820 18 59195354 [T/C] NM_031891 CDH20 EXON Missense_P391L exm1389841 18 59217405 [G/C] NM_031891 CDH20 EXON Missense_V615L exm1389847 18 59221447 [T/C] NM_031891 CDH20 EXON Missense_M642T exm2272686 18 59244189 [T/C] exm1389882 18 59483248 [A/G] NM_173557 RNF152 EXON Missense_A150V exm1389885 18 59483281 [T/C] NM_173557 RNF152 EXON Missense_Q139R exm1389887 18 59483309 [T/C] NM_173557 RNF152 EXON Missense_V130I exm2227954 18 59483633 [A/G] NM_173557 RNF152 EXON Missense_R22W exm1389917 18 59483680 [T/C] NM_173557 RNF152 EXON Missense_Q6R exm2268114 18 59583446 [A/G] exm2268155 18 59657583 [A/G] exm1389920 18 59713102 [T/C] NM_176787,NM_012327 PIGN,PIGN EXON Missense_S928N,Missense_S928N exm1389925 18 59713173 [A/C] NM_176787,NM_012327 PIGN,PIGN EXON Missense_F904L,Missense_F904L exm1389926 18 59713206 [C/G] NM_176787,NM_012327 PIGN,PIGN EXON Missense_S893R,Missense_S893R exm1389942 18 59752456 [T/C] NM_176787,NM_012327 PIGN,PIGN EXON Missense_I804M,Missense_I804M exm1389949 18 59757754 [T/C] NM_176787,NM_012327 PIGN,PIGN EXON Missense_I746M,Missense_I746M exm1389970 18 59774095 [T/C] NM_176787,NM_012327 PIGN,PIGN EXON Missense_R565H,Missense_R565H exm1389981 18 59780393 [A/T] NM_176787,NM_012327 PIGN,PIGN EXON Missense_I470L,Missense_I470L exm1915358 18 59780405 [A/G] NM_176787,NM_012327 PIGN,PIGN EXON Missense_H466Y,Missense_H466Y exm1389986 18 59780414 [T/C] NM_176787,NM_012327 PIGN,PIGN EXON Missense_I463V,Missense_I463V exm1389995 18 59805532 [T/C] NM_176787,NM_012327 PIGN,PIGN Silent,Silent exm1915365 18 59806230 [A/G] NM_176787,NM_012327 PIGN,PIGN EXON Missense_L368F,Missense_L368F exm1390022 18 59814324 [C/G] NM_176787,NM_012327 PIGN,PIGN EXON Missense_H229D,Missense_H229D exm1390029 18 59821843 [T/C] NM_176787,NM_012327 PIGN,PIGN EXON Missense_K162E,Missense_K162E exm1390041 18 59825010 [T/C] NM_176787,NM_012327 PIGN,PIGN EXON Missense_I85V,Missense_I85V exm1915383 18 59828406 [A/C] NM_176787,NM_012327 PIGN,PIGN EXON Nonsense_E61X,Nonsense_E61X exm1390044 18 59828420 [A/G] NM_176787,NM_012327 PIGN,PIGN EXON Missense_A56V,Missense_A56V exm1390052 18 59854886 [A/G] NM_020854 KIAA1468 EXON Missense_G50S exm2253495 18 59854993 [T/C] NM_020854 KIAA1468 EXON Synonymous_T85T exm1390062 18 59878446 [A/G] NM_020854 KIAA1468 EXON Missense_G196D exm1390080 18 59895684 [C/G] NM_020854 KIAA1468 EXON Missense_T434R exm1390081 18 59895693 [A/G] NM_020854 KIAA1468 EXON Missense_H437R exm1390086 18 59898437 [T/C] NM_020854 KIAA1468 EXON Missense_P487S exm1390092 18 59899595 [A/G] NM_020854 KIAA1468 EXON Missense_V519I exm1390111 18 59925286 [A/G] NM_020854 KIAA1468 EXON Missense_M668V exm1390121 18 59928885 [A/G] NM_020854 KIAA1468 EXON Missense_I782V exm1390145 18 59942691 [T/C] NM_020854 KIAA1468 EXON Synonymous_A984A exm2253496 18 59942691 [T/C] NM_020854 KIAA1468 EXON Synonymous_A984A exm1390158 18 59958824 [A/G] NM_020854 KIAA1468 EXON Missense_C1140Y exm1390172 18 60015458 [T/C] NM_001270950,NM_003839,NM_001270951,NM_001270949 TNFRSF11A,TNFRSF11A,TNFRSF11A,TNFRSF11A EXON Missense_R45W,Missense_R45W,Missense_R45W,Missense_R45W exm1390180 18 60021723 [A/G] NM_001270950,NM_003839,NM_001270951,NM_001270949 TNFRSF11A,TNFRSF11A,TNFRSF11A,TNFRSF11A EXON Missense_R128H,Missense_R128H,Missense_R128H,Missense_R128H exm1390184 18 60021761 [T/C] NM_001270950,NM_003839,NM_001270951,NM_001270949 TNFRSF11A,TNFRSF11A,TNFRSF11A,TNFRSF11A EXON Missense_H141Y,Missense_H141Y,Missense_H141Y,Missense_H141Y exm1390199 18 60027241 [T/C] NM_001270950,NM_003839,NM_001270951,NM_001270949 TNFRSF11A,TNFRSF11A,TNFRSF11A,TNFRSF11A EXON Missense_A192V,Missense_A192V,Missense_A192V,Missense_A192V exm1390200 18 60028921 [A/G] NM_001270950,NM_003839,NM_001270951,NM_001270949 TNFRSF11A,TNFRSF11A,TNFRSF11A,TNFRSF11A EXON Missense_V209I,Missense_V209I,Silent,Missense_V209I exm1390205 18 60029014 [A/G] NM_001270950,NM_003839,NM_001270951,NM_001270949 TNFRSF11A,TNFRSF11A,TNFRSF11A,TNFRSF11A EXON Missense_K240E,Missense_K240E,Silent,Missense_K240E exm1390226 18 60036429 [A/G] NM_001270950,NM_003839,NM_001270951,NM_001270949 TNFRSF11A,TNFRSF11A,TNFRSF11A,TNFRSF11A EXON Silent,Missense_D427N,Silent,Silent exm1390233 18 60036565 [C/G] NM_001270950,NM_003839,NM_001270951,NM_001270949 TNFRSF11A,TNFRSF11A,TNFRSF11A,TNFRSF11A EXON Silent,Missense_C472S,Silent,Silent exm1390235 18 60036669 [A/G] NM_001270950,NM_003839,NM_001270951,NM_001270949 TNFRSF11A,TNFRSF11A,TNFRSF11A,TNFRSF11A EXON Silent,Missense_A507T,Silent,Silent exm1390243 18 60052034 [A/G] NM_001270950,NM_003839,NM_001270951,NM_001270949 TNFRSF11A,TNFRSF11A,TNFRSF11A,TNFRSF11A EXON Missense_M261V,Missense_M540V,Missense_M223V,Silent exm-rs884205 18 60054857 [A/C] NM_001270950,NM_003839,NM_001270951,NM_001270949 TNFRSF11A,TNFRSF11A,TNFRSF11A,TNFRSF11A EXON Silent,Silent,Silent,Silent exm-rs2957128 18 60060735 [A/G] exm-rs3018362 18 60082093 [A/G] exm1390260 18 60206951 [A/G] NM_017742 ZCCHC2 EXON Missense_E326G exm1390261 18 60206965 [A/G] NM_017742 ZCCHC2 EXON Missense_E331K exm1390287 18 60230244 [A/G] NM_017742 ZCCHC2 EXON Missense_N518S exm1390297 18 60232248 [A/G] NM_017742 ZCCHC2 EXON Missense_K589E exm1390300 18 60232303 [A/G] NM_017742 ZCCHC2 EXON Missense_Q607R exm1390301 18 60232314 [A/G] NM_017742 ZCCHC2 EXON Missense_G611S exm1390304 18 60241291 [T/C] NM_017742 ZCCHC2 EXON Synonymous_D659D exm1390316 18 60241617 [T/C] NM_017742 ZCCHC2 EXON Missense_T768I exm1390329 18 60241929 [A/C] NM_017742 ZCCHC2 EXON Missense_A872E exm1390334 18 60242135 [A/G] NM_017742 ZCCHC2 EXON Missense_T941A exm1390340 18 60242190 [T/C] NM_017742 ZCCHC2 EXON Missense_P959L exm1390350 18 60242428 [T/G] NM_017742 ZCCHC2 EXON Missense_M1038I exm1390364 18 60384459 [A/T] NM_194449 PHLPP1 EXON Missense_S515T exm1390371 18 60497283 [T/C] NM_194449 PHLPP1 EXON Missense_T531M exm1390374 18 60497393 [T/C] NM_194449 PHLPP1 EXON Missense_C568R exm1390378 18 60497450 [G/C] NM_194449 PHLPP1 EXON Missense_L587V exm1390401 18 60563121 [A/C] NM_194449 PHLPP1 EXON Missense_D774A exm1390403 18 60563131 [A/C] NM_194449 PHLPP1 EXON Missense_E777D exm1390404 18 60563225 [A/G] NM_194449 PHLPP1 EXON Missense_I809V exm2272688 18 60568428 [T/G] NM_194449 PHLPP1 Silent exm1390409 18 60572489 [A/C] NM_194449 PHLPP1 EXON Missense_N894H exm1390428 18 60625890 [C/G] NM_194449 PHLPP1 EXON Missense_S1118T exm1390453 18 60645498 [A/G] NM_194449 PHLPP1 EXON Missense_G1330S exm1390455 18 60645525 [A/T] NM_194449 PHLPP1 EXON Missense_T1339S exm1390461 18 60645678 [T/C] NM_194449 PHLPP1 EXON Missense_R1390C exm1390471 18 60645819 [A/G] NM_194449 PHLPP1 EXON Missense_G1437S exm1390476 18 60646006 [T/C] NM_194449 PHLPP1 EXON Missense_P1499L exm1390482 18 60646054 [A/G] NM_194449 PHLPP1 EXON Missense_R1515H exm2268156 18 60665539 [A/G] exm-rs7234352 18 60739233 [A/G] exm1390522 18 60795971 [T/C] NM_000633 BCL2 EXON Missense_G203S exm1390573 18 61060701 [T/C] NM_004869 VPS4B EXON Missense_I392V exm1390575 18 61060722 [A/G] NM_004869 VPS4B EXON Missense_S385P exm1390577 18 61060749 [A/G] NM_004869 VPS4B EXON Missense_L376F exm1390583 18 61064280 [A/G] NM_004869 VPS4B EXON Missense_T360I exm1915613 18 61071020 [T/A] NM_004869 VPS4B EXON Missense_D135V exm1390598 18 61071046 [T/C] NM_004869 VPS4B EXON Missense_I126M exm1390622 18 61151704 [C/G] NM_002639 SERPINB5 EXON Missense_L15V exm1390627 18 61154180 [T/G] NM_002639 SERPINB5 EXON Missense_V57G exm1390635 18 61156587 [T/C] NM_002639 SERPINB5 EXON Missense_I105T exm1390642 18 61160287 [T/C] NM_002639 SERPINB5 EXON Missense_S176P exm1390643 18 61160308 [T/C] NM_002639 SERPINB5 EXON Missense_C183R exm1390645 18 61160320 [G/C] NM_002639 SERPINB5 EXON Missense_V187L exm2264662 18 61163084 [A/C] NM_002639 SERPINB5 Silent exm1390648 18 61166376 [G/C] NM_002639 SERPINB5 EXON Missense_M197I exm1390657 18 61170694 [A/C] NM_002639 SERPINB5 EXON Missense_E289D exm1390671 18 61223519 [T/C] NM_080474 SERPINB12 EXON Missense_R43C exm1390679 18 61225645 [A/T] NM_080474 SERPINB12 EXON Missense_S77C exm1390687 18 61226835 [A/G] NM_080474 SERPINB12 EXON Missense_G90R exm1390696 18 61232711 [A/G] NM_080474 SERPINB12 EXON Missense_K227E exm1915661 18 61233861 [A/G] NM_080474 SERPINB12 EXON Missense_E279K exm1390708 18 61233907 [T/C] NM_080474 SERPINB12 EXON Missense_S294L exm1390715 18 61234027 [T/C] NM_080474 SERPINB12 EXON Missense_S334F exm1390717 18 61234039 [A/G] NM_080474 SERPINB12 EXON Missense_N338S exm1915665 18 61234110 [A/G] NM_080474 SERPINB12 EXON Missense_A362T exm1390721 18 61234129 [T/C] NM_080474 SERPINB12 EXON Missense_S368L exm1390740 18 61256025 [T/C] NM_012397 SERPINB13 EXON Missense_L42F exm1390741 18 61256037 [T/C] NM_012397 SERPINB13 EXON Nonsense_R46X exm1390755 18 61260113 [A/G] NM_012397 SERPINB13 EXON Missense_Y127C exm1390758 18 61260155 [T/C] NM_012397 SERPINB13 EXON Missense_A141V exm1390760 18 61260157 [A/G] NM_012397 SERPINB13 EXON Missense_D142N exm2227973 18 61260167 [A/G] NM_012397 SERPINB13 EXON Missense_R145Q exm1915677 18 61260204 [T/C] NM_012397 SERPINB13 EXON Synonymous_N157N exm1390789 18 61264298 [A/G] NM_012397 SERPINB13 EXON Missense_G293S exm1390804 18 61264593 [A/C] NM_012397 SERPINB13 EXON Missense_P391H exm1390855 18 61306995 [A/G] NM_002974 SERPINB4 EXON Missense_L162P exm1390891 18 61322980 [T/C] NM_006919 SERPINB3 EXON Missense_E362K exm1390895 18 61323012 [C/G] NM_006919 SERPINB3 EXON Missense_G351A exm1390917 18 61324115 [T/C] NM_006919 SERPINB3 EXON Missense_D240N exm1915725 18 61324200 [C/G] NM_006919 SERPINB3 EXON Missense_Q211H exm1390923 18 61324214 [A/G] NM_006919 SERPINB3 EXON Missense_Y207H exm1390931 18 61324607 [T/C] NM_006919 SERPINB3 EXON Missense_S170N exm1390934 18 61325785 [T/C] NM_006919 SERPINB3 EXON Missense_R144Q exm1390969 18 61377495 [A/G] NM_080475 SERPINB11 EXON Missense_N23S exm1915745 18 61377548 [A/G] NM_080475 SERPINB11 EXON Missense_M41V exm1390976 18 61377570 [A/G] NM_080475 SERPINB11 EXON Missense_G48E exm1390978 18 61377579 [A/C] NM_080475 SERPINB11 EXON Missense_E51A exm1390979 18 61377584 [T/C] NM_080475 SERPINB11 EXON Nonsense_Q53X exm1390982 18 61379799 [T/C] NM_080475 SERPINB11 EXON Missense_C77R exm1390986 18 61379877 [T/C] NM_080475 SERPINB11 EXON Missense_L103F exm1390988 18 61379911 [T/C] NM_080475 SERPINB11 EXON Missense_T114M exm1390993 18 61383354 [T/C] NM_080475 SERPINB11 EXON Missense_T148M exm1390996 18 61387277 [T/C] NM_080475 SERPINB11 EXON Missense_T169I exm1390998 18 61387312 [A/G] NM_080475 SERPINB11 EXON Missense_A181T exm1390999 18 61387313 [T/C] NM_080475 SERPINB11 EXON Missense_A181V exm1391000 18 61387333 [A/T] NM_080475 SERPINB11 EXON Missense_W188R exm1391001 18 61387340 [A/C] NM_080475 SERPINB11 EXON Missense_N190T exm1391002 18 61387389 [A/G] NM_080475 SERPINB11 EXON Synonymous_E206E exm1391005 18 61388143 [A/G] NM_080475 SERPINB11 EXON Missense_V233I exm1391006 18 61390227 [A/G] NM_080475 SERPINB11 Silent exm1391010 18 61390317 [A/G] NM_080475 SERPINB11 EXON Missense_R288Q exm1391015 18 61390365 [T/C] NM_080475 SERPINB11 EXON Missense_L304P exm1391020 18 61390515 [T/C] NM_080475 SERPINB11 EXON Missense_I354T exm2253502 18 61390570 [T/G] NM_080475 SERPINB11 EXON Synonymous_L372L exm1391033 18 61390631 [T/G] NM_080475 SERPINB11 EXON Missense_X393E exm1391040 18 61449746 [A/G] NM_001040147,NM_003784,NM_001261831,NM_001261830 SERPINB7,SERPINB7,SERPINB7,SERPINB7 EXON Missense_Q47R,Missense_Q47R,Missense_Q47R,Missense_Q47R exm1915769 18 61459639 [A/G] NM_001040147,NM_003784,NM_001261831,NM_001261830 SERPINB7,SERPINB7,SERPINB7,SERPINB7 EXON Missense_N61D,Missense_N61D,Silent,Missense_N61D exm1391055 18 61463552 [T/A] NM_001040147,NM_003784,NM_001261831,NM_001261830 SERPINB7,SERPINB7,SERPINB7,SERPINB7 EXON Missense_D130V,Missense_D130V,Missense_D113V,Missense_D130V exm1391076 18 61471522 [T/C] NM_001040147,NM_003784,NM_001261831,NM_001261830 SERPINB7,SERPINB7,SERPINB7,SERPINB7 EXON Nonsense_R266X,Nonsense_R266X,Nonsense_R249X,Nonsense_R266X exm1391077 18 61471523 [A/G] NM_001040147,NM_003784,NM_001261831,NM_001261830 SERPINB7,SERPINB7,SERPINB7,SERPINB7 EXON Missense_R266Q,Missense_R266Q,Missense_R249Q,Missense_R266Q exm1391079 18 61471529 [T/C] NM_001040147,NM_003784,NM_001261831,NM_001261830 SERPINB7,SERPINB7,SERPINB7,SERPINB7 EXON Missense_T268I,Missense_T268I,Missense_T251I,Missense_T268I exm1391080 18 61471559 [A/G] NM_001040147,NM_003784,NM_001261831,NM_001261830 SERPINB7,SERPINB7,SERPINB7,SERPINB7 EXON Missense_Q278R,Missense_Q278R,Missense_Q261R,Missense_Q278R exm1391091 18 61471718 [A/C] NM_001040147,NM_003784,NM_001261831,NM_001261830 SERPINB7,SERPINB7,SERPINB7,SERPINB7 EXON Missense_E331A,Missense_E331A,Missense_E314A,Missense_E331A exm1391094 18 61471862 [A/G] NM_001040147,NM_003784,NM_001261831,NM_001261830 SERPINB7,SERPINB7,SERPINB7,SERPINB7 EXON Missense_C379Y,Missense_C379Y,Missense_C362Y,Missense_C379Y exm2253503 18 61498396 [A/G] exm1391110 18 61562568 [A/G] NM_001143818,NM_002575 SERPINB2,SERPINB2 EXON Missense_G80E,Missense_G80E exm1391111 18 61562580 [A/C] NM_001143818,NM_002575 SERPINB2,SERPINB2 EXON Missense_Q84P,Missense_Q84P exm1391129 18 61565054 [A/T] NM_001143818,NM_002575 SERPINB2,SERPINB2 EXON Missense_S171T,Missense_S171T exm1391135 18 61569091 [C/G] NM_001143818,NM_002575 SERPINB2,SERPINB2 EXON Missense_G218A,Missense_G218A exm1391142 18 61569645 [A/G] NM_001143818,NM_002575 SERPINB2,SERPINB2 EXON Missense_R229H,Missense_R229H exm1391149 18 61569697 [A/G] NM_001143818,NM_002575 SERPINB2,SERPINB2 EXON Missense_I246M,Missense_I246M exm1915805 18 61569711 [G/C] NM_001143818,NM_002575 SERPINB2,SERPINB2 EXON Missense_A251G,Missense_A251G exm1391163 18 61570367 [T/C] NM_001143818,NM_002575 SERPINB2,SERPINB2 EXON Missense_M359T,Missense_M359T exm1391166 18 61570400 [T/C] NM_001143818,NM_002575 SERPINB2,SERPINB2 EXON Missense_A370V,Missense_A370V exm1391168 18 61570402 [A/G] NM_001143818,NM_002575 SERPINB2,SERPINB2 EXON Missense_A371T,Missense_A371T exm1391169 18 61570408 [T/A] NM_001143818,NM_002575 SERPINB2,SERPINB2 EXON Missense_T373S,Missense_T373S exm1391170 18 61570412 [G/C] NM_001143818,NM_002575 SERPINB2,SERPINB2 EXON Missense_G374A,Missense_G374A exm1391175 18 61570529 [C/G] NM_001143818,NM_002575 SERPINB2,SERPINB2 EXON Missense_S413C,Missense_S413C exm1391181 18 61582751 [T/G] NM_005024 SERPINB10 EXON Missense_S3A exm1391193 18 61584690 [A/G] NM_005024 SERPINB10 EXON Missense_V57M exm1391194 18 61584726 [T/G] NM_005024 SERPINB10 EXON Missense_D69Y exm1391202 18 61585247 [G/C] NM_005024 SERPINB10 EXON Missense_L95V exm1391203 18 61585260 [T/C] NM_005024 SERPINB10 EXON Missense_I99T exm2276577 18 61585302 [A/C] NM_005024 SERPINB10 EXON Missense_A113E exm1391206 18 61585320 [T/C] NM_005024 SERPINB10 EXON Missense_T119M exm1391212 18 61587044 [T/C] NM_005024 SERPINB10 EXON Missense_T132I exm1391215 18 61587064 [T/C] NM_005024 SERPINB10 EXON Nonsense_Q139X exm1391216 18 61587067 [T/C] NM_005024 SERPINB10 EXON Missense_P140S exm1391220 18 61587136 [A/G] NM_005024 SERPINB10 EXON Missense_E163K exm1391230 18 61597344 [A/G] NM_005024 SERPINB10 EXON Missense_A186T exm1391231 18 61597345 [T/C] NM_005024 SERPINB10 EXON Missense_A186V exm1391236 18 61597386 [G/C] NM_005024 SERPINB10 EXON Missense_Q200E exm1391239 18 61600294 [T/C] NM_005024 SERPINB10 EXON Missense_P216S exm1391244 18 61600384 [T/C] NM_005024 SERPINB10 EXON Missense_R246C exm1391261 18 61602360 [A/G] NM_005024 SERPINB10 EXON Missense_D360N exm1391265 18 61602394 [A/G] NM_005024 SERPINB10 EXON Missense_N371S exm1391275 18 61621663 [A/G] NM_001123366 HMSD EXON Missense_G32R exm1915843 18 61645628 [T/C] NM_198833,NM_001276490,NM_002640,NM_001031848 SERPINB8,SERPINB8,SERPINB8,SERPINB8 EXON Missense_F29S,Silent,Missense_F29S,Missense_F29S exm1391301 18 61647063 [T/C] NM_198833,NM_001276490,NM_002640,NM_001031848 SERPINB8,SERPINB8,SERPINB8,SERPINB8 EXON Missense_I66T,Silent,Missense_I66T,Missense_I66T exm1391304 18 61647120 [T/G] NM_198833,NM_001276490,NM_002640,NM_001031848 SERPINB8,SERPINB8,SERPINB8,SERPINB8 EXON Missense_L85W,Silent,Missense_L85W,Missense_L85W exm1391308 18 61647170 [T/C] NM_198833,NM_001276490,NM_002640,NM_001031848 SERPINB8,SERPINB8,SERPINB8,SERPINB8 EXON Missense_P102S,Silent,Missense_P102S,Missense_P102S exm1391315 18 61650935 [A/G] NM_198833,NM_001276490,NM_002640,NM_001031848 SERPINB8,SERPINB8,SERPINB8,SERPINB8 EXON Missense_M183V,Missense_M1V,Missense_M183V,Missense_M183V exm1391316 18 61650953 [A/G] NM_198833,NM_001276490,NM_002640,NM_001031848 SERPINB8,SERPINB8,SERPINB8,SERPINB8 EXON Missense_E189K,Missense_E7K,Missense_E189K,Missense_E189K exm1391321 18 61652330 [T/A] NM_198833,NM_001276490,NM_002640,NM_001031848 SERPINB8,SERPINB8,SERPINB8,SERPINB8 EXON Nonsense_K191X,Nonsense_K9X,Nonsense_K191X,Nonsense_K191X exm1391325 18 61652382 [T/C] NM_198833,NM_001276490,NM_002640,NM_001031848 SERPINB8,SERPINB8,SERPINB8,SERPINB8 EXON Missense_A208V,Missense_A26V,Missense_A208V,Missense_A208V exm1391333 18 61653495 [C/G] NM_198833,NM_001276490,NM_002640,NM_001031848 SERPINB8,SERPINB8,SERPINB8,SERPINB8 EXON Silent,Silent,Silent,Missense_E242Q exm1391339 18 61654183 [A/G] NM_198833,NM_001276490,NM_002640 SERPINB8,SERPINB8,SERPINB8 EXON Missense_V266I,Missense_V84I,Missense_V266I exm1915856 18 61654210 [A/G] NM_198833,NM_001276490,NM_002640 SERPINB8,SERPINB8,SERPINB8 EXON Missense_E275K,Missense_E93K,Missense_E275K exm1391340 18 61654237 [T/C] NM_198833,NM_001276490,NM_002640 SERPINB8,SERPINB8,SERPINB8 EXON Nonsense_R284X,Nonsense_R102X,Nonsense_R284X exm1391341 18 61654238 [A/G] NM_198833,NM_001276490,NM_002640 SERPINB8,SERPINB8,SERPINB8 EXON Missense_R284Q,Missense_R102Q,Missense_R284Q exm1391342 18 61654259 [G/C] NM_198833,NM_001276490,NM_002640 SERPINB8,SERPINB8,SERPINB8 EXON Missense_A291G,Missense_A109G,Missense_A291G exm1915859 18 61654375 [A/G] NM_198833,NM_001276490,NM_002640 SERPINB8,SERPINB8,SERPINB8 EXON Missense_A330T,Missense_A148T,Missense_A330T exm1391354 18 61654402 [T/C] NM_198833,NM_001276490,NM_002640 SERPINB8,SERPINB8,SERPINB8 EXON Missense_R339W,Missense_R157W,Missense_R339W exm1391359 18 61654463 [A/G] NM_198833,NM_001276490,NM_002640 SERPINB8,SERPINB8,SERPINB8 EXON Missense_H359R,Missense_H177R,Missense_H359R exm2260794 18 61862921 [A/C] NR_033881 LOC284294 Silent exm2268116 18 62013349 [A/G] NR_033881 LOC284294 Silent exm2268117 18 62255693 [A/G] exm2272743 18 62726012 [T/G] exm-rs8083346 18 62998775 [T/G] exm-rs470490 18 63031236 [T/G] exm2272689 18 63112979 [T/C] exm1391385 18 63476982 [A/G] NM_033646,NM_004361 CDH7,CDH7 EXON Missense_I85V,Missense_I85V exm2272744 18 63498880 [T/C] NM_033646,NM_004361 CDH7,CDH7 Silent,Silent exm1391423 18 63511111 [A/G] NM_033646,NM_004361 CDH7,CDH7 EXON Missense_D349N,Missense_D349N exm1391425 18 63511148 [T/C] NM_033646,NM_004361 CDH7,CDH7 EXON Missense_T361M,Missense_T361M exm1391434 18 63525114 [T/A] NM_033646,NM_004361 CDH7,CDH7 EXON Missense_V433D,Missense_V433D exm1391450 18 63529958 [A/G] NM_033646,NM_004361 CDH7,CDH7 EXON Missense_V557I,Missense_V557I exm1391453 18 63530016 [A/G] NM_033646,NM_004361 CDH7,CDH7 EXON Missense_N576S,Missense_N576S exm2268119 18 63751037 [A/G] exm2253510 18 64066170 [T/C] exm1391477 18 64172074 [C/G] NM_001271028,NM_021153,NR_073130 CDH19,CDH19,CDH19 EXON Silent,Missense_G765A,Silent exm1391480 18 64172234 [T/C] NM_001271028,NM_021153,NR_073130 CDH19,CDH19,CDH19 EXON Silent,Missense_A712T,Silent exm1391484 18 64172410 [T/G] NM_001271028,NM_021153,NR_073130 CDH19,CDH19,CDH19 EXON Silent,Missense_A653D,Silent exm1391485 18 64172434 [G/C] NM_001271028,NM_021153,NR_073130 CDH19,CDH19,CDH19 EXON Silent,Missense_G645A,Silent exm1391491 18 64176256 [G/C] NM_001271028,NM_021153,NR_073130 CDH19,CDH19,CDH19 EXON Silent,Missense_L602V,Silent exm1391498 18 64176484 [T/C] NM_001271028,NM_021153,NR_073130 CDH19,CDH19,CDH19 Silent,Silent,Silent exm1391514 18 64202337 [T/C] NM_001271028,NM_021153,NR_073130 CDH19,CDH19,CDH19 EXON Missense_I408V,Missense_I408V,Silent exm1391516 18 64211217 [T/G] NM_001271028,NM_021153,NR_073130 CDH19,CDH19,CDH19 EXON Missense_S402Y,Missense_S402Y,Silent exm1391518 18 64211251 [T/C] NM_001271028,NM_021153,NR_073130 CDH19,CDH19,CDH19 EXON Missense_V391M,Missense_V391M,Silent exm1391522 18 64211343 [T/C] NM_001271028,NM_021153,NR_073130 CDH19,CDH19,CDH19 EXON Missense_Q360R,Missense_Q360R,Silent exm1391525 18 64211445 [T/G] NM_001271028,NM_021153,NR_073130 CDH19,CDH19,CDH19 EXON Missense_H326P,Missense_H326P,Silent exm1391541 18 64218391 [T/C] NM_001271028,NM_021153,NR_073130 CDH19,CDH19,CDH19 EXON Missense_T239A,Missense_T239A,Silent exm1391549 18 64221698 [T/C] NM_001271028,NM_021153,NR_073130 CDH19,CDH19,CDH19 EXON Missense_R185H,Missense_R185H,Silent exm2253511 18 64221751 [A/G] NM_001271028,NM_021153,NR_073130 CDH19,CDH19,CDH19 EXON Synonymous_V167V,Synonymous_V167V,Silent exm2227997 18 64235665 [A/T] NM_001271028,NM_021153,NR_073130 CDH19,CDH19,CDH19 EXON Missense_M160L,Missense_M160L,Silent exm1391556 18 64235677 [T/C] NM_001271028,NM_021153,NR_073130 CDH19,CDH19,CDH19 EXON Missense_I156V,Missense_I156V,Silent exm1391558 18 64235692 [G/C] NM_001271028,NM_021153,NR_073130 CDH19,CDH19,CDH19 EXON Missense_E151Q,Missense_E151Q,Silent exm1391560 18 64235710 [A/C] NM_001271028,NM_021153,NR_073130 CDH19,CDH19,CDH19 EXON Nonsense_E145X,Nonsense_E145X,Silent exm1391567 18 64235877 [A/G] NM_001271028,NM_021153,NR_073130 CDH19,CDH19,CDH19 EXON Missense_T89I,Missense_T89I,Silent exm1391570 18 64235922 [T/C] NM_001271028,NM_021153,NR_073130 CDH19,CDH19,CDH19 EXON Missense_N74S,Missense_N74S,Silent exm1391571 18 64235930 [T/G] NM_001271028,NM_021153,NR_073130 CDH19,CDH19,CDH19 EXON Missense_D71E,Missense_D71E,Silent exm1391574 18 64239301 [C/G] NM_001271028,NM_021153,NR_073130 CDH19,CDH19,CDH19 EXON Missense_W47C,Missense_W47C,Silent exm2268120 18 64553265 [A/G] exm-rs2124349 18 65017100 [A/G] exm1391583 18 65178235 [T/C] NM_032160 DSEL EXON Missense_R1214H exm1391584 18 65178238 [T/G] NM_032160 DSEL EXON Missense_D1213A exm1391586 18 65178356 [T/G] NM_032160 DSEL EXON Missense_N1174H exm1391595 18 65178507 [T/C] NM_032160 DSEL EXON Missense_I1123M exm1391601 18 65178683 [T/G] NM_032160 DSEL EXON Missense_P1065T exm1391604 18 65178779 [A/G] NM_032160 DSEL EXON Missense_S1033P exm1391610 18 65178905 [T/C] NM_032160 DSEL EXON Missense_D991N exm1391614 18 65178944 [A/G] NM_032160 DSEL EXON Missense_P978S exm1391615 18 65179022 [A/G] NM_032160 DSEL EXON Missense_P952S exm1391619 18 65179057 [A/G] NM_032160 DSEL EXON Missense_T940I exm1391625 18 65179199 [T/C] NM_032160 DSEL EXON Missense_V893I exm1391628 18 65179327 [T/C] NM_032160 DSEL EXON Missense_K850R exm1391631 18 65179410 [A/C] NM_032160 DSEL EXON Missense_W822C exm1391635 18 65179472 [A/G] NM_032160 DSEL EXON Missense_R802C exm1391639 18 65179594 [A/C] NM_032160 DSEL EXON Missense_G761V exm1391642 18 65179646 [T/C] NM_032160 DSEL EXON Missense_G744S exm1391644 18 65179657 [T/C] NM_032160 DSEL EXON Missense_Y740C exm2253514 18 65179674 [A/C] NM_032160 DSEL EXON Synonymous_L734L exm1391652 18 65179829 [A/G] NM_032160 DSEL EXON Missense_P683S exm1391659 18 65180127 [A/C] NM_032160 DSEL EXON Missense_L583F exm1391660 18 65180129 [A/C] NM_032160 DSEL EXON Missense_L583V exm1391663 18 65180146 [T/C] NM_032160 DSEL EXON Missense_K577R exm1391664 18 65180152 [T/C] NM_032160 DSEL EXON Missense_R575K exm1391679 18 65180570 [T/C] NM_032160 DSEL EXON Missense_N436D exm1391699 18 65180987 [T/C] NM_032160 DSEL EXON Missense_V297I exm1391706 18 65181101 [T/C] NM_032160 DSEL EXON Missense_I259V exm2228002 18 65181221 [A/C] NM_032160 DSEL EXON Nonsense_E219X exm1391721 18 65181506 [T/C] NM_032160 DSEL EXON Missense_A124T exm1391722 18 65181518 [A/G] NM_032160 DSEL EXON Missense_H120Y exm1391730 18 65181668 [T/A] NM_032160 DSEL EXON Missense_M70L exm1391734 18 65181846 [G/C] NM_032160 DSEL EXON Missense_I10M exm1391735 18 65181874 [T/A] NM_032160 DSEL EXON Missense_M1K exm2253515 18 65193147 [T/G] NR_033921 LOC643542 Silent exm-rs17077540 18 65285279 [A/G] NR_033921 LOC643542 Silent exm-rs13353224 18 65400425 [A/G] NR_033921 LOC643542 Silent exm2272692 18 65887287 [T/C] exm2253517 18 66132843 [T/C] exm1391741 18 66344267 [A/G] NM_019022 TMX3 EXON Missense_I423T exm1391743 18 66344300 [A/G] NM_019022 TMX3 EXON Missense_V412A exm1391752 18 66348256 [T/C] NM_019022 TMX3 EXON Missense_V333I exm1391754 18 66348328 [T/C] NM_019022 TMX3 EXON Missense_V309I exm1391757 18 66351445 [T/A] NM_019022 TMX3 EXON Missense_Y277F exm2228004 18 66358550 [T/C] NM_019022 TMX3 EXON Missense_T207A exm1391772 18 66364531 [T/C] NM_019022 TMX3 EXON Missense_I168V exm1391795 18 66382200 [A/G] NM_019022 TMX3 EXON Missense_W7R exm1391796 18 66382201 [A/C] NM_019022 TMX3 EXON Missense_S6R exm1391805 18 66504176 [G/C] NM_001093729,NM_024781 CCDC102B,CCDC102B EXON Missense_A59G,Missense_A59G exm1391806 18 66504185 [A/G] NM_001093729,NM_024781 CCDC102B,CCDC102B EXON Missense_Y62C,Missense_Y62C exm1391813 18 66504346 [T/G] NM_001093729,NM_024781 CCDC102B,CCDC102B EXON Missense_A116S,Missense_A116S exm1391818 18 66504459 [A/T] NM_001093729,NM_024781 CCDC102B,CCDC102B EXON Missense_K153N,Missense_K153N exm1391822 18 66505955 [T/G] NM_001093729,NM_024781 CCDC102B,CCDC102B EXON Missense_V207F,Missense_V207F exm1391824 18 66506039 [A/G] NM_001093729,NM_024781 CCDC102B,CCDC102B EXON Missense_G235S,Missense_G235S exm1391825 18 66506046 [C/G] NM_001093729,NM_024781 CCDC102B,CCDC102B EXON Missense_T237R,Missense_T237R exm1391832 18 66513612 [A/G] NM_001093729,NM_024781 CCDC102B,CCDC102B EXON Nonsense_W297X,Nonsense_W297X exm1391834 18 66513615 [A/G] NM_001093729,NM_024781 CCDC102B,CCDC102B EXON Missense_K298R,Missense_K298R exm1391841 18 66542006 [T/G] NM_001093729,NM_024781 CCDC102B,CCDC102B EXON Missense_C346F,Missense_C346F exm1391842 18 66564474 [A/G] NM_001093729,NM_024781 CCDC102B,CCDC102B EXON Missense_E358K,Missense_E358K exm1391846 18 66564514 [C/G] NM_001093729,NM_024781 CCDC102B,CCDC102B EXON Missense_R371T,Missense_R371T exm1391847 18 66564531 [A/G] NM_001093729,NM_024781 CCDC102B,CCDC102B EXON Missense_E377K,Missense_E377K exm1916176 18 66564535 [A/G] NM_001093729,NM_024781 CCDC102B,CCDC102B EXON Missense_R378K,Missense_R378K exm2228009 18 66564559 [A/C] NM_001093729,NM_024781 CCDC102B,CCDC102B EXON Missense_Q386P,Missense_Q386P exm1391851 18 66564600 [T/A] NM_001093729,NM_024781 CCDC102B,CCDC102B EXON Missense_L400I,Missense_L400I exm1391854 18 66564660 [A/C] NM_001093729,NM_024781 CCDC102B,CCDC102B EXON Missense_N420H,Missense_N420H exm1391855 18 66564662 [A/C] NM_001093729,NM_024781 CCDC102B,CCDC102B EXON Missense_N420K,Missense_N420K exm1391856 18 66564666 [T/G] NM_001093729,NM_024781 CCDC102B,CCDC102B Silent,Silent exm2272745 18 66605389 [T/C] NM_001093729,NM_024781 CCDC102B,CCDC102B Silent,Silent exm1391858 18 66678182 [A/C] NM_001093729,NM_024781 CCDC102B,CCDC102B EXON Missense_N425K,Missense_N425K exm1391859 18 66678192 [C/G] NM_001093729,NM_024781 CCDC102B,CCDC102B EXON Missense_A429P,Missense_A429P exm1391863 18 66678241 [T/C] NM_001093729,NM_024781 CCDC102B,CCDC102B EXON Missense_T445I,Missense_T445I exm2272694 18 66881895 [T/C] exm-rs17184557 18 67142857 [T/A] NM_152721 DOK6 Silent exm1391886 18 67266681 [T/C] NM_152721 DOK6 EXON Missense_A79V exm1916213 18 67425017 [T/G] NM_152721 DOK6 EXON Missense_M255R exm1391912 18 67508495 [T/C] NM_152721 DOK6 EXON Missense_S291L exm1391915 18 67508533 [A/G] NM_152721 DOK6 EXON Missense_A304T exm1391923 18 67531572 [T/C] NM_006566 CD226 EXON Missense_R330H exm1391925 18 67531642 [T/C] NM_006566 CD226 EXON Missense_S307G exm1391929 18 67534642 [T/C] NM_006566 CD226 EXON Missense_R279K exm1391935 18 67562940 [T/C] NM_006566 CD226 EXON Missense_E242K exm1391938 18 67562982 [T/C] NM_006566 CD226 EXON Missense_A228T exm1391939 18 67562983 [A/G] NM_006566 CD226 EXON Synonymous_S227S exm2253523 18 67562983 [A/G] NM_006566 CD226 EXON Synonymous_S227S exm1391946 18 67563152 [T/C] NM_006566 CD226 EXON Missense_R171H exm1391952 18 67563246 [T/C] NM_006566 CD226 EXON Missense_I140V exm1391953 18 67563263 [A/G] NM_006566 CD226 EXON Missense_V134A exm1391964 18 67614227 [A/G] NM_006566 CD226 EXON Missense_M42T exm1391966 18 67614297 [T/C] NM_006566 CD226 EXON Missense_E19K exm1391986 18 67673697 [T/C] NM_173630 RTTN EXON Missense_A2149T exm1391992 18 67684875 [A/C] NM_173630 RTTN EXON Missense_L2063F exm1391999 18 67687966 [A/C] NM_173630 RTTN EXON Missense_C2013F exm1392012 18 67691992 [G/C] NM_173630 RTTN EXON Missense_Q1972H exm2268158 18 67695505 [A/G] NM_173630 RTTN Silent exm1392031 18 67715241 [T/C] NM_173630 RTTN EXON Missense_K1836R exm1392041 18 67718652 [A/G] NM_173630 RTTN EXON Missense_A1773V exm1392042 18 67718688 [A/G] NM_173630 RTTN EXON Missense_F1761S exm1392046 18 67718745 [T/C] NM_173630 RTTN EXON Missense_H1742R exm1392047 18 67718758 [A/G] NM_173630 RTTN EXON Missense_H1738Y exm1392053 18 67721378 [T/G] NM_173630 RTTN EXON Missense_K1725T exm1392054 18 67721409 [T/C] NM_173630 RTTN EXON Missense_N1715D exm1392068 18 67727147 [T/C] NM_173630 RTTN EXON Missense_I1627V exm1392070 18 67727176 [A/G] NM_173630 RTTN EXON Missense_M1617T exm1392077 18 67741143 [T/G] NM_173630 RTTN EXON Missense_T1551K exm1392092 18 67753863 [A/C] NM_173630 RTTN EXON Missense_D1454Y exm2253524 18 67753915 [T/C] NM_173630 RTTN EXON Synonymous_A1436A exm1392094 18 67755229 [T/C] NM_173630 RTTN EXON Missense_R1433Q exm1392126 18 67781709 [T/G] NM_173630 RTTN EXON Missense_L1219M exm1392128 18 67781783 [T/C] NM_173630 RTTN EXON Missense_E1194G exm1392137 18 67794783 [T/C] NM_173630 RTTN EXON Missense_C1113Y exm2276578 18 67794800 [G/C] NM_173630 RTTN EXON Missense_K1107N exm1392138 18 67794883 [T/C] NM_173630 RTTN EXON Missense_V1080I exm1392149 18 67795747 [A/G] NM_173630 RTTN EXON Missense_A997V exm1392151 18 67801751 [A/G] NM_173630 RTTN EXON Missense_S971F exm1392156 18 67802484 [C/G] NM_173630 RTTN EXON Missense_V941L exm1392158 18 67802490 [T/C] NM_173630 RTTN EXON Missense_S939G exm1392159 18 67802501 [T/C] NM_173630 RTTN EXON Missense_H935R exm1392168 18 67809569 [T/C] NM_173630 RTTN EXON Missense_V846I exm1392186 18 67816191 [A/G] NM_173630 RTTN EXON Missense_P752L exm1392196 18 67817869 [A/C] NM_173630 RTTN EXON Missense_F677C exm1392203 18 67833306 [T/C] NM_173630 RTTN EXON Missense_I641V exm1392212 18 67836104 [T/G] NM_173630 RTTN EXON Missense_D559A exm1392213 18 67836115 [T/G] NM_173630 RTTN EXON Missense_N555K exm1916352 18 67836297 [T/C] NM_173630 RTTN EXON Missense_E495K exm1392228 18 67844057 [T/C] NM_173630 RTTN EXON Missense_G444R exm1392231 18 67855348 [T/G] NM_173630 RTTN EXON Missense_D434A exm1916364 18 67863745 [T/C] NM_173630 RTTN EXON Missense_N278S exm1392250 18 67863773 [A/G] NM_173630 RTTN EXON Missense_F269L exm1392253 18 67863839 [A/G] NM_173630 RTTN EXON Missense_R247C exm1392254 18 67863844 [T/C] NM_173630 RTTN EXON Missense_K245R exm1392259 18 67863859 [A/G] NM_173630 RTTN EXON Missense_A240V exm1916368 18 67864880 [A/G] NM_173630 RTTN EXON Nonsense_Q225X exm1392264 18 67864918 [T/G] NM_173630 RTTN EXON Missense_D212A exm1392270 18 67866734 [T/G] NM_173630 RTTN EXON Missense_Q165P exm1392285 18 67871492 [A/G] NM_173630 RTTN EXON Missense_P76L exm1392292 18 67872495 [A/C] NM_173630 RTTN EXON Nonsense_E30X exm1392296 18 67872539 [A/G] NM_173630 RTTN EXON Missense_A15V exm1392298 18 67872876 [T/C] NM_173630 RTTN EXON Missense_I7V exm-rs7228049 18 67982783 [A/G] NM_004232 SOCS6 Silent exm1392307 18 67992115 [A/G] NM_004232 SOCS6 EXON Missense_E71K exm2253525 18 67992225 [G/C] NM_004232 SOCS6 EXON Synonymous_S107S exm2228021 18 67992322 [T/C] NM_004232 SOCS6 EXON Missense_R140W exm2228022 18 67992595 [T/A] NM_004232 SOCS6 EXON Missense_M231L exm1392330 18 67992638 [T/C] NM_004232 SOCS6 EXON Missense_S245F exm1392339 18 67992797 [A/G] NM_004232 SOCS6 EXON Missense_Q298R exm1392342 18 67992817 [A/G] NM_004232 SOCS6 EXON Missense_D305N exm2253526 18 67993104 [T/C] NM_004232 SOCS6 EXON Synonymous_N400N exm2272696 18 68108228 [T/C] exm-rs8092443 18 68142414 [A/G] exm-rs11663206 18 68153620 [T/C] exm2268159 18 68216679 [A/G] exm-rs2660917 18 68628078 [T/C] exm-rs17083844 18 68842243 [A/G] exm2268121 18 68844408 [A/G] exm2272746 18 69051326 [T/C] exm-rs17085106 18 69439073 [T/G] exm-rs2685428 18 69487009 [T/C] exm2253533 18 69497922 [T/C] exm-rs337718 18 69774278 [T/C] exm2253534 18 69958278 [T/C] exm2268160 18 70207340 [A/G] NM_182511 CBLN2 Silent exm1916814 18 70416282 [T/C] NM_001201465,NM_138966 NETO1,NETO1 EXON Missense_Y528C,Missense_Y528C exm1392399 18 70417378 [C/G] NM_001201465,NM_138966 NETO1,NETO1 EXON Missense_A487G,Missense_A487G exm1392401 18 70417396 [T/C] NM_001201465,NM_138966 NETO1,NETO1 EXON Missense_S481N,Missense_S481N exm1392407 18 70417634 [T/C] NM_001201465,NM_138966 NETO1,NETO1 EXON Missense_G402R,Missense_G402R exm1916818 18 70417649 [T/C] NM_001201465,NM_138966 NETO1,NETO1 EXON Missense_T397A,Missense_T397A exm1392412 18 70417721 [T/C] NM_001201465,NM_138966 NETO1,NETO1 EXON Missense_V373I,Missense_V373I exm1392414 18 70417732 [T/C] NM_001201465,NM_138966 NETO1,NETO1 EXON Missense_R369H,Missense_R369H exm2253535 18 70501767 [T/C] NM_001201465,NM_138966,NM_138999 NETO1,NETO1,NETO1 EXON Silent,Silent,Silent exm1392454 18 70532471 [T/C] NM_001201465,NM_138966,NM_138999 NETO1,NETO1,NETO1 EXON Missense_A12T,Missense_A12T,Missense_A11T exm2272747 18 70917610 [T/C] NR_034133 LOC400655 Silent exm-rs1943816 18 71058622 [A/G] exm2272700 18 71106985 [T/C] exm-rs11872509 18 71442075 [T/C] exm2260806 18 71482490 [A/G] exm1392468 18 71740725 [T/C] NM_001142958,NM_152676 FBXO15,FBXO15 EXON Missense_I502V,Missense_I426V exm1392471 18 71740743 [A/G] NM_001142958,NM_152676 FBXO15,FBXO15 EXON Missense_Y496H,Missense_Y420H exm1392480 18 71749181 [A/C] NM_001142958,NM_152676 FBXO15,FBXO15 EXON Missense_I415S,Missense_I339S exm1392496 18 71791730 [T/G] NM_001142958,NM_152676 FBXO15,FBXO15 EXON Missense_A330D,Missense_A254D exm1916913 18 71793304 [T/C] NM_001142958,NM_152676 FBXO15,FBXO15 EXON Missense_N273S,Missense_N197S exm1392505 18 71793325 [A/T] NM_001142958,NM_152676 FBXO15,FBXO15 EXON Missense_H266L,Missense_H190L exm1392508 18 71793336 [T/C] NM_001142958,NM_152676 FBXO15,FBXO15 EXON Synonymous_R262R,Synonymous_R186R exm1392512 18 71796695 [A/C] NM_001142958,NM_152676 FBXO15,FBXO15 EXON Missense_L244V,Missense_L168V exm1392514 18 71796733 [T/C] NM_001142958,NM_152676 FBXO15,FBXO15 EXON Missense_K231R,Missense_K155R exm1392516 18 71796790 [A/G] NM_001142958,NM_152676 FBXO15,FBXO15 EXON Missense_M212T,Missense_M136T exm1392554 18 71816278 [A/G] NM_014177 TIMM21 EXON Missense_G79S exm1392562 18 71822544 [T/G] NM_014177 TIMM21 EXON Missense_G123V exm1392571 18 71825310 [A/G] NM_014177 TIMM21 EXON Missense_R175Q exm1392572 18 71825446 [A/G] NM_014177 TIMM21 EXON Missense_V193M exm1392574 18 71825498 [T/C] NM_014177 TIMM21 EXON Missense_A210V exm1392576 18 71825639 [A/G] NM_014177 TIMM21 EXON Missense_R224Q exm1392586 18 71920841 [T/C] NM_001914,NM_148923,NM_001190807 CYB5A,CYB5A,CYB5A EXON Silent,Missense_R128H,Missense_R118H exm1392597 18 71928150 [T/C] NM_001914,NM_148923,NM_001190807 CYB5A,CYB5A,CYB5A EXON Synonymous_P96P,Synonymous_P96P,Silent exm1392622 18 72020840 [A/G] NM_001174123 C18orf63 EXON Missense_M446I exm1392625 18 72021145 [A/T] NM_001174123 C18orf63 EXON Missense_F548Y exm2268123 18 72022671 [A/G] NM_001174123 C18orf63 Silent exm1392629 18 72103739 [A/C] NM_001044369 FAM69C EXON Missense_K419N exm1392633 18 72103782 [T/C] NM_001044369 FAM69C EXON Missense_Q405R exm1392634 18 72103801 [T/C] NM_001044369 FAM69C EXON Missense_V399M exm1392635 18 72103821 [A/G] NM_001044369 FAM69C EXON Missense_T392I exm1392638 18 72103863 [A/G] NM_001044369 FAM69C EXON Missense_A378V exm-rs1559806 18 72108787 [A/G] NM_001044369 FAM69C Silent exm1392644 18 72109196 [T/G] NM_001044369 FAM69C EXON Missense_N344K exm2253541 18 72109211 [T/C] NM_001044369 FAM69C EXON Synonymous_A339A exm1392656 18 72114038 [T/C] NM_001044369 FAM69C EXON Missense_A227T exm1392657 18 72114055 [A/G] NM_001044369 FAM69C EXON Missense_A221V exm1392666 18 72114490 [A/G] NM_001044369 FAM69C EXON Missense_A76V exm2253542 18 72123370 [T/G] NM_001044369 FAM69C Silent exm1392685 18 72173245 [T/C] NM_018235,NM_001168499 CNDP2,CNDP2 EXON Synonymous_D122D,Silent exm1392690 18 72176083 [T/C] NM_018235,NM_001168499 CNDP2,CNDP2 EXON Missense_Y126H,Silent exm1392708 18 72178130 [A/G] NM_018235,NM_001168499 CNDP2,CNDP2 EXON Missense_R180Q,Missense_R96Q exm1392724 18 72180812 [T/G] NM_018235,NM_001168499 CNDP2,CNDP2 EXON Missense_R254M,Missense_R170M exm2253543 18 72183615 [T/C] NM_018235,NM_001168499 CNDP2,CNDP2 EXON Synonymous_V352V,Synonymous_V268V exm1392748 18 72185800 [A/G] NM_018235,NM_001168499 CNDP2,CNDP2 EXON Missense_G379S,Missense_G295S exm1392751 18 72185872 [A/G] NM_018235,NM_001168499 CNDP2,CNDP2 EXON Missense_T403A,Missense_T319A exm1392762 18 72186306 [T/C] NM_018235,NM_001168499 CNDP2,CNDP2 EXON Missense_H445Y,Missense_H361Y exm1392764 18 72187268 [A/G] NM_018235,NM_001168499 CNDP2,CNDP2 EXON Missense_A465T,Missense_A381T exm1392770 18 72201918 [A/G] NM_032649 CNDP1 EXON Missense_G6R exm1917037 18 72226583 [A/G] NM_032649 CNDP1 EXON Missense_E60G exm1392793 18 72226597 [T/C] NM_032649 CNDP1 EXON Nonsense_Q65X exm1392801 18 72226675 [T/C] NM_032649 CNDP1 EXON Missense_R91C exm1392806 18 72228097 [A/G] NM_032649 CNDP1 EXON Missense_D104N exm1392810 18 72228136 [A/G] NM_032649 CNDP1 EXON Missense_E117K exm1392826 18 72229308 [A/G] NM_032649 CNDP1 EXON Missense_D165N exm1392832 18 72234625 [T/C] NM_032649 CNDP1 EXON Missense_A238V exm1392834 18 72234637 [G/C] NM_032649 CNDP1 EXON Missense_G242A exm1392841 18 72238472 [A/C] NM_032649 CNDP1 EXON Missense_H270N exm1917049 18 72238481 [A/G] NM_032649 CNDP1 EXON Missense_M273V exm1392847 18 72244208 [A/G] NM_032649 CNDP1 EXON Missense_D316N exm1392858 18 72245458 [A/G] NM_032649 CNDP1 EXON Missense_A355T exm1392868 18 72247372 [T/C] NM_032649 CNDP1 EXON Nonsense_R392X exm1392880 18 72250823 [T/C] NM_032649 CNDP1 EXON Missense_R446W exm1392882 18 72250883 [T/G] NM_032649 CNDP1 EXON Missense_V466L exm1392895 18 72343156 [A/G] NM_017757,NM_001146189,NM_001146190 ZNF407,ZNF407,ZNF407 EXON Missense_S61G,Missense_S61G,Missense_S61G exm1392897 18 72343181 [A/G] NM_017757,NM_001146189,NM_001146190 ZNF407,ZNF407,ZNF407 EXON Missense_N69S,Missense_N69S,Missense_N69S exm1392902 18 72343292 [A/T] NM_017757,NM_001146189,NM_001146190 ZNF407,ZNF407,ZNF407 EXON Missense_I106N,Missense_I106N,Missense_I106N exm1392907 18 72343402 [T/G] NM_017757,NM_001146189,NM_001146190 ZNF407,ZNF407,ZNF407 EXON Missense_V143F,Missense_V143F,Missense_V143F exm1392911 18 72343465 [A/G] NM_017757,NM_001146189,NM_001146190 ZNF407,ZNF407,ZNF407 EXON Missense_R164G,Missense_R164G,Missense_R164G exm1392919 18 72343567 [T/G] NM_017757,NM_001146189,NM_001146190 ZNF407,ZNF407,ZNF407 EXON Missense_C198G,Missense_C198G,Missense_C198G exm1392934 18 72344002 [A/G] NM_017757,NM_001146189,NM_001146190 ZNF407,ZNF407,ZNF407 EXON Missense_E343K,Missense_E343K,Missense_E343K exm1392940 18 72344108 [A/G] NM_017757,NM_001146189,NM_001146190 ZNF407,ZNF407,ZNF407 EXON Missense_Q378R,Missense_Q378R,Missense_Q378R exm1392942 18 72344159 [T/G] NM_017757,NM_001146189,NM_001146190 ZNF407,ZNF407,ZNF407 EXON Missense_L395W,Missense_L395W,Missense_L395W exm1392947 18 72344261 [A/G] NM_017757,NM_001146189,NM_001146190 ZNF407,ZNF407,ZNF407 EXON Missense_R429Q,Missense_R429Q,Missense_R429Q exm1392951 18 72344389 [A/G] NM_017757,NM_001146189,NM_001146190 ZNF407,ZNF407,ZNF407 EXON Missense_D472N,Missense_D472N,Missense_D472N exm1392960 18 72344509 [A/G] NM_017757,NM_001146189,NM_001146190 ZNF407,ZNF407,ZNF407 EXON Missense_G512R,Missense_G512R,Missense_G512R exm2228053 18 72344575 [A/G] NM_017757,NM_001146189,NM_001146190 ZNF407,ZNF407,ZNF407 EXON Missense_G534R,Missense_G534R,Missense_G534R exm1392964 18 72344653 [T/C] NM_017757,NM_001146189,NM_001146190 ZNF407,ZNF407,ZNF407 EXON Missense_R560C,Missense_R560C,Missense_R560C exm1392970 18 72344914 [A/G] NM_017757,NM_001146189,NM_001146190 ZNF407,ZNF407,ZNF407 EXON Missense_K647E,Missense_K647E,Missense_K647E exm1392972 18 72344966 [T/G] NM_017757,NM_001146189,NM_001146190 ZNF407,ZNF407,ZNF407 EXON Missense_S664I,Missense_S664I,Missense_S664I exm1392985 18 72345352 [A/G] NM_017757,NM_001146189,NM_001146190 ZNF407,ZNF407,ZNF407 EXON Missense_G793R,Missense_G793R,Missense_G793R exm1392993 18 72345468 [A/T] NM_017757,NM_001146189,NM_001146190 ZNF407,ZNF407,ZNF407 EXON Missense_D831E,Missense_D831E,Missense_D831E exm1393003 18 72345841 [A/G] NM_017757,NM_001146189,NM_001146190 ZNF407,ZNF407,ZNF407 EXON Missense_V956I,Missense_V956I,Missense_V956I exm1393006 18 72345871 [A/G] NM_017757,NM_001146189,NM_001146190 ZNF407,ZNF407,ZNF407 EXON Missense_I966V,Missense_I966V,Missense_I966V exm1393010 18 72345985 [A/G] NM_017757,NM_001146189,NM_001146190 ZNF407,ZNF407,ZNF407 EXON Missense_D1004N,Missense_D1004N,Missense_D1004N exm1393029 18 72346405 [A/G] NM_017757,NM_001146189,NM_001146190 ZNF407,ZNF407,ZNF407 EXON Missense_A1144T,Missense_A1144T,Missense_A1144T exm2253544 18 72346701 [T/C] NM_017757,NM_001146189,NM_001146190 ZNF407,ZNF407,ZNF407 EXON Synonymous_G1242G,Synonymous_G1242G,Synonymous_G1242G exm1393058 18 72347006 [A/G] NM_017757,NM_001146189,NM_001146190 ZNF407,ZNF407,ZNF407 EXON Missense_D1344G,Missense_D1344G,Missense_D1344G exm1393060 18 72347081 [A/G] NM_017757,NM_001146189,NM_001146190 ZNF407,ZNF407,ZNF407 EXON Missense_G1369D,Missense_G1369D,Missense_G1369D exm1393069 18 72347444 [A/G] NM_017757,NM_001146189,NM_001146190 ZNF407,ZNF407,ZNF407 EXON Missense_K1490R,Missense_K1490R,Missense_K1490R exm2268162 18 72455151 [A/G] NM_017757,NM_001146189,NM_001146190 ZNF407,ZNF407,ZNF407 Silent,Silent,Silent exm1393090 18 72515978 [T/G] NM_017757,NM_001146189,NM_001146190 ZNF407,ZNF407,ZNF407 EXON Silent,Silent,Missense_A1646S exm1393133 18 72775294 [A/G] NM_017757 ZNF407 EXON Missense_D1873N exm1393147 18 72775531 [A/G] NM_017757 ZNF407 EXON Missense_G1952S exm1393151 18 72775684 [A/G] NM_017757 ZNF407 EXON Missense_E2003K exm1393152 18 72775691 [A/G] NM_017757 ZNF407 EXON Missense_R2005K exm1393160 18 72775754 [A/G] NM_017757 ZNF407 EXON Missense_Q2026R exm1393162 18 72775777 [A/G] NM_017757 ZNF407 EXON Missense_D2034N exm1393168 18 72775834 [A/G] NM_017757 ZNF407 EXON Missense_V2053M exm1393178 18 72775954 [A/G] NM_017757 ZNF407 EXON Missense_A2093T exm1393182 18 72775978 [A/G] NM_017757 ZNF407 EXON Missense_G2101S exm2268124 18 72866264 [A/G] exm1393209 18 72913453 [T/C] NM_175907 ZADH2 EXON Missense_R351H exm1393222 18 72913642 [A/G] NM_175907 ZADH2 EXON Missense_T288I exm1393229 18 72913771 [T/C] NM_175907 ZADH2 EXON Missense_Y245C exm1917159 18 72913820 [T/C] NM_175907 ZADH2 EXON Missense_V229I exm1393235 18 72913885 [T/G] NM_175907 ZADH2 EXON Missense_D207A exm1393243 18 72914003 [T/C] NM_175907 ZADH2 EXON Missense_G168R exm1917162 18 72914075 [G/C] NM_175907 ZADH2 EXON Missense_P144A exm1393248 18 72914108 [T/C] NM_175907 ZADH2 EXON Missense_T133A exm1393249 18 72914161 [T/C] NM_175907 ZADH2 EXON Missense_Y115C exm1393260 18 72920909 [A/C] NM_175907 ZADH2 EXON Missense_K35N exm1393283 18 72997677 [T/C] NM_005786 TSHZ1 EXON Synonymous_S60S exm2253546 18 72997677 [T/C] NM_005786 TSHZ1 EXON Synonymous_S60S exm1393295 18 72997828 [A/C] NM_005786 TSHZ1 EXON Missense_P111T exm1393314 18 72998050 [T/C] NM_005786 TSHZ1 EXON Missense_R185C exm1917178 18 72998191 [G/C] NM_005786 TSHZ1 EXON Missense_D232H exm1393340 18 72998524 [T/C] NM_005786 TSHZ1 EXON Missense_P343S exm1393342 18 72998530 [A/G] NM_005786 TSHZ1 EXON Missense_V345I exm1393345 18 72998593 [T/C] NM_005786 TSHZ1 EXON Missense_R366C exm1393350 18 72998660 [T/C] NM_005786 TSHZ1 EXON Missense_A388V exm1393367 18 72998898 [T/C] NM_005786 TSHZ1 EXON Synonymous_D467D exm2253547 18 72998898 [T/C] NM_005786 TSHZ1 EXON Synonymous_D467D exm1393376 18 72999127 [T/G] NM_005786 TSHZ1 EXON Missense_V544L exm1393379 18 72999148 [A/G] NM_005786 TSHZ1 EXON Missense_V551M exm1393386 18 72999205 [A/G] NM_005786 TSHZ1 EXON Missense_A570T exm1393394 18 72999359 [T/C] NM_005786 TSHZ1 EXON Missense_L621P exm1393398 18 72999404 [T/C] NM_005786 TSHZ1 EXON Missense_P636L exm1393399 18 72999410 [T/C] NM_005786 TSHZ1 EXON Missense_T638M exm1393400 18 72999424 [A/G] NM_005786 TSHZ1 EXON Missense_G643S exm1393413 18 72999662 [T/C] NM_005786 TSHZ1 EXON Missense_S722L exm1393417 18 72999734 [G/C] NM_005786 TSHZ1 EXON Missense_P746R exm1393420 18 72999760 [T/C] NM_005786 TSHZ1 EXON Missense_R755C exm1393432 18 72999868 [A/G] NM_005786 TSHZ1 EXON Missense_A791T exm1393438 18 72999911 [A/G] NM_005786 TSHZ1 EXON Missense_R805H exm1393444 18 73000088 [A/G] NM_005786 TSHZ1 EXON Missense_R864Q exm2228061 18 73000141 [G/C] NM_005786 TSHZ1 EXON Missense_V882L exm1393455 18 73000426 [A/G] NM_005786 TSHZ1 EXON Missense_T977A exm1393463 18 73000543 [A/G] NM_005786 TSHZ1 EXON Missense_G1016S exm1393482 18 73139434 [A/G] NM_001037331 C18orf62 EXON Missense_R29W exm1393483 18 73139438 [T/C] NM_001037331 C18orf62 EXON Missense_M27I exm1393485 18 73139487 [T/C] NM_001037331 C18orf62 EXON Missense_R11Q exm1393486 18 73139497 [G/C] NM_001037331 C18orf62 EXON Missense_A8P exm2260809 18 73500233 [T/C] exm2253549 18 73625498 [T/C] exm2253551 18 73990475 [A/G] exm2260810 18 74069122 [T/C] exm1393495 18 74082537 [A/G] NM_014643 ZNF516 EXON Synonymous_S1126S exm1393496 18 74082539 [A/C] NM_014643 ZNF516 EXON Missense_S1126A exm1393501 18 74083491 [T/C] NM_014643 ZNF516 EXON Missense_V1099I exm1393505 18 74090859 [T/C] NM_014643 ZNF516 EXON Synonymous_A1070A exm1393506 18 74090864 [A/G] NM_014643 ZNF516 EXON Missense_F1069L exm1393509 18 74090931 [T/C] NM_014643 ZNF516 EXON Synonymous_P1046P exm1393515 18 74090976 [T/C] NM_014643 ZNF516 EXON Missense_V1032M exm1393535 18 74091242 [A/G] NM_014643 ZNF516 EXON Missense_P943L exm1393546 18 74091374 [A/G] NM_014643 ZNF516 EXON Missense_A899V exm1393547 18 74091384 [T/G] NM_014643 ZNF516 EXON Missense_P896T exm2228064 18 74091393 [T/C] NM_014643 ZNF516 EXON Missense_G893S exm1393550 18 74091434 [A/G] NM_014643 ZNF516 EXON Missense_A879V exm1393551 18 74091444 [A/C] NM_014643 ZNF516 EXON Missense_A876S exm1393554 18 74091461 [T/C] NM_014643 ZNF516 EXON Missense_H870R exm1393556 18 74091534 [T/C] NM_014643 ZNF516 EXON Missense_G846R exm1393559 18 74091594 [C/G] NM_014643 ZNF516 EXON Missense_E826Q exm1393576 18 74091834 [T/C] NM_014643 ZNF516 EXON Missense_N746D exm1393582 18 74091912 [T/C] NM_014643 ZNF516 EXON Missense_G720R exm1393585 18 74091962 [A/G] NM_014643 ZNF516 EXON Missense_T703M exm1393597 18 74092170 [T/C] NM_014643 ZNF516 EXON Missense_A634T exm1393601 18 74092203 [T/C] NM_014643 ZNF516 EXON Missense_S623G exm1393605 18 74092242 [A/G] NM_014643 ZNF516 EXON Missense_C610R exm-rs4891159 18 74101941 [A/G] NM_014643 ZNF516 Silent exm1393615 18 74153287 [T/C] NM_014643 ZNF516 EXON Missense_C575Y exm1393631 18 74153699 [A/C] NM_014643 ZNF516 EXON Missense_A438S exm1393644 18 74154070 [A/G] NM_014643 ZNF516 EXON Missense_P314L exm1393645 18 74154089 [T/G] NM_014643 ZNF516 EXON Missense_P308T exm1393677 18 74155000 [T/C] NM_014643 ZNF516 EXON Missense_N4S exm1393717 18 74580780 [T/C] NM_007345 ZNF236 EXON Missense_S166L exm1393719 18 74580815 [A/G] NM_007345 ZNF236 EXON Missense_I178V exm1393732 18 74590107 [T/C] NM_007345 ZNF236 EXON Missense_T326M exm1393735 18 74592121 [T/C] NM_007345 ZNF236 EXON Missense_S344L exm1393746 18 74593441 [T/A] NM_007345 ZNF236 EXON Missense_I462L exm1393764 18 74611092 [A/G] NM_007345 ZNF236 EXON Missense_R601H exm1393766 18 74611109 [G/C] NM_007345 ZNF236 EXON Missense_R607G exm1393767 18 74611127 [A/G] NM_007345 ZNF236 EXON Missense_I613V exm1393768 18 74611130 [T/C] NM_007345 ZNF236 EXON Missense_P614S exm1393769 18 74616372 [A/C] NM_007345 ZNF236 EXON Missense_Q642P exm1393770 18 74616374 [A/G] NM_007345 ZNF236 EXON Missense_S643G exm1393771 18 74616399 [A/G] NM_007345 ZNF236 EXON Missense_N651S exm1393781 18 74620329 [A/G] NM_007345 ZNF236 EXON Missense_D782G exm1393792 18 74620439 [A/G] NM_007345 ZNF236 EXON Missense_M819V exm1393797 18 74622054 [A/G] NM_007345 ZNF236 EXON Missense_R859Q exm1393804 18 74622617 [T/G] NM_007345 ZNF236 EXON Synonymous_G883G exm1393806 18 74622634 [T/C] NM_007345 ZNF236 EXON Missense_T889M exm1393813 18 74624285 [A/G] NM_007345 ZNF236 EXON Missense_Q962R exm2253553 18 74625763 [A/G] NM_007345 ZNF236 EXON Synonymous_S988S exm1393820 18 74625806 [A/G] NM_007345 ZNF236 EXON Missense_G1003S exm1393830 18 74627723 [T/G] NM_007345 ZNF236 EXON Missense_G1059V exm1917352 18 74639368 [A/C] NM_007345 ZNF236 EXON Missense_I1435L exm1393879 18 74640002 [A/G] NM_007345 ZNF236 EXON Missense_A1510T exm1393885 18 74640061 [T/C] NM_007345 ZNF236 EXON Synonymous_S1529S exm1917362 18 74668038 [T/C] NM_007345 ZNF236 EXON Missense_A1669V exm2228072 18 74671677 [T/C] NM_007345 ZNF236 EXON Missense_L1714S exm1393930 18 74672703 [A/G] NM_007345 ZNF236 EXON Missense_M1769V exm2253554 18 74672735 [A/G] NM_007345 ZNF236 EXON Synonymous_K1779K exm1393941 18 74680224 [C/G] NM_007345 ZNF236 EXON Missense_R1823G exm1393953 18 74692415 [T/C] NM_001025101,NM_001025090,NM_001025081,NM_002385,NM_001025092 MBP,MBP,MBP,MBP,MBP EXON Missense_S295G,Missense_S162G,Missense_S188G,Missense_S177G,Missense_S151G exm1393964 18 74700856 [T/C] NM_001025101,NM_001025090,NM_001025081,NM_002385,NM_001025092 MBP,MBP,MBP,MBP,MBP EXON Missense_T232A,Missense_T99A,Missense_T125A,Missense_T125A,Missense_T99A exm1393976 18 74701992 [T/C] NM_001025101,NM_001025090,NM_001025081,NM_002385,NM_001025092 MBP,MBP,MBP,MBP,MBP EXON Missense_A201T,Missense_A68T,Missense_A94T,Missense_A94T,Missense_A68T exm1393985 18 74721866 [A/G] NM_001025101,NM_001025090,NM_001025081,NM_002385,NM_001025092 MBP,MBP,MBP,MBP,MBP EXON Silent,Silent,Missense_P65L,Missense_P65L,Silent exm1393994 18 74728823 [T/C] NM_001025101,NM_001025090,NM_001025081,NM_002385,NM_001025092,NM_001025100 MBP,MBP,MBP,MBP,MBP,MBP EXON Missense_G181S,Missense_G48S,Missense_G48S,Missense_G48S,Missense_G48S,Missense_G181S exm1393996 18 74728874 [A/G] NM_001025101,NM_001025090,NM_001025081,NM_002385,NM_001025092,NM_001025100 MBP,MBP,MBP,MBP,MBP,MBP EXON Missense_P164S,Missense_P31S,Missense_P31S,Missense_P31S,Missense_P31S,Missense_P164S exm1917391 18 74729146 [A/G] NM_001025101,NM_001025100 MBP,MBP EXON Missense_P73L,Missense_P73L exm1394004 18 74729176 [A/G] NM_001025101,NM_001025100 MBP,MBP EXON Missense_A63V,Missense_A63V exm1394005 18 74729191 [A/G] NM_001025101,NM_001025100 MBP,MBP EXON Missense_S58F,Missense_S58F exm2272704 18 74739022 [T/C] NM_001025101,NM_001025100 MBP,MBP Silent,Silent exm2260811 18 74764131 [A/G] NM_001025101,NM_001025100 MBP,MBP Silent,Silent exm1394012 18 74778283 [T/C] NM_001025101,NM_001025100 MBP,MBP EXON Missense_R37Q,Missense_R37Q exm2272705 18 74962645 [T/C] NM_001480 GALR1 EXON Synonymous_G47G exm1394037 18 74962794 [T/C] NM_001480 GALR1 EXON Missense_A97V exm1394046 18 74962952 [G/C] NM_001480 GALR1 EXON Missense_R150G exm1394050 18 74968114 [T/G] NM_001480 GALR1 EXON Missense_V223F exm1394051 18 74968172 [A/G] NM_001480 GALR1 EXON Missense_K242R exm1394053 18 74980553 [A/G] NM_001480 GALR1 EXON Missense_V249I exm1394056 18 74980601 [T/A] NM_001480 GALR1 EXON Missense_I265F exm1394057 18 74980620 [A/C] NM_001480 GALR1 EXON Missense_E271A exm1394066 18 74980809 [A/G] NM_001480 GALR1 EXON Missense_S334N exm1394067 18 74980833 [T/C] NM_001480 GALR1 EXON Missense_P342L exm-rs2717128 18 74987632 [A/G] exm2272706 18 75579585 [T/C] exm2268164 18 75698350 [A/G] exm2260813 18 76065914 [A/C] exm-rs2002842 18 76409597 [A/C] exm2268126 18 76533765 [A/G] exm1394139 18 76753726 [A/G] NM_171999 SALL3 EXON Missense_A579T exm1394146 18 76753768 [G/C] NM_171999 SALL3 EXON Missense_L593V exm1917479 18 76753882 [T/C] NM_171999 SALL3 EXON Missense_L631F exm1394164 18 76754200 [A/G] NM_171999 SALL3 EXON Missense_V737M exm1394177 18 76754380 [A/G] NM_171999 SALL3 EXON Missense_D797N exm1394181 18 76754444 [T/C] NM_171999 SALL3 EXON Missense_P818L exm1394190 18 76754549 [T/C] NM_171999 SALL3 EXON Missense_V853A exm1394194 18 76754584 [A/G] NM_171999 SALL3 EXON Missense_V865M exm1394195 18 76754593 [T/G] NM_171999 SALL3 EXON Missense_G868W exm1394200 18 76754683 [T/G] NM_171999 SALL3 EXON Nonsense_E898X exm1394201 18 76754684 [A/C] NM_171999 SALL3 EXON Missense_E898A exm1394202 18 76754737 [T/C] NM_171999 SALL3 EXON Missense_R916C exm1394216 18 76755035 [T/C] NM_171999 SALL3 EXON Missense_S1015F exm1394217 18 76755040 [A/G] NM_171999 SALL3 EXON Missense_M1017V exm2253560 18 76755375 [T/G] NM_171999 SALL3 EXON Synonymous_L1128L exm1394238 18 76756988 [T/C] NM_171999 SALL3 EXON Missense_L1190P exm1394248 18 76757146 [A/G] NM_171999 SALL3 EXON Missense_V1243M exm1394250 18 76757173 [A/C] NM_171999 SALL3 EXON Missense_P1252T exm1394253 18 76757210 [T/G] NM_171999 SALL3 EXON Missense_R1264L exm1394254 18 76757228 [T/C] NM_171999 SALL3 EXON Missense_P1270L exm2253561 18 76792814 [T/C] exm1394268 18 76829468 [A/C] NM_198531 ATP9B EXON Missense_R20S exm1394275 18 76856499 [T/C] NM_198531 ATP9B EXON Missense_A48V exm2228080 18 76856565 [A/G] NM_198531 ATP9B EXON Missense_H70R exm1394283 18 76856583 [C/G] NM_198531 ATP9B EXON Missense_R76T exm1394286 18 76856627 [C/G] NM_198531 ATP9B EXON Missense_G91R exm1394291 18 76870384 [A/G] NM_198531 ATP9B EXON Missense_R108Q exm1394301 18 76873279 [T/G] NM_198531 ATP9B EXON Nonsense_Y161X exm1394304 18 76873346 [A/G] NM_198531 ATP9B EXON Missense_A184T exm1394308 18 76886315 [T/C] NM_198531 ATP9B EXON Missense_R203W exm1394310 18 76886319 [A/G] NM_198531 ATP9B EXON Missense_R204H exm1394311 18 76886325 [A/T] NM_198531 ATP9B EXON Missense_Q206L exm1394316 18 76903810 [A/C] NM_198531 ATP9B EXON Missense_Q226K exm1394317 18 76903852 [A/G] NM_198531 ATP9B EXON Missense_V240M exm1394319 18 76914520 [T/C] NM_198531 ATP9B EXON Missense_S248L exm1394321 18 76914528 [A/G] NM_198531 ATP9B EXON Missense_V251M exm1917523 18 76953262 [A/G] NM_198531 ATP9B EXON Missense_R318K exm1394333 18 76953264 [A/G] NM_198531 ATP9B Silent exm1394338 18 76973970 [A/C] NM_198531 ATP9B EXON Missense_I347L exm1394350 18 77013505 [A/G] NM_198531 ATP9B EXON Missense_R411Q exm1917536 18 77037071 [T/A] NM_198531 ATP9B EXON Missense_D429V exm1394362 18 77063666 [A/G] NM_198531 ATP9B EXON Missense_A492T exm1394366 18 77063702 [A/G] NM_198531 ATP9B EXON Missense_D504N exm1394369 18 77066999 [A/C] NM_198531 ATP9B EXON Missense_A513D exm1394376 18 77067130 [A/G] NM_198531 ATP9B EXON Missense_V557M exm1394377 18 77067143 [A/G] NM_198531 ATP9B EXON Missense_R561Q exm1394384 18 77089144 [A/G] NM_198531 ATP9B EXON Missense_A593T exm1394389 18 77089228 [T/C] NM_198531 ATP9B EXON Nonsense_Q621X exm1394391 18 77089273 [G/C] NM_198531 ATP9B EXON Missense_E636Q exm1394394 18 77089297 [A/G] NM_198531 ATP9B EXON Missense_V644I exm1394427 18 77104269 [A/C] NM_198531 ATP9B EXON Missense_T796N exm1394431 18 77104320 [A/G] NM_198531 ATP9B EXON Missense_D813G exm1394463 18 77119422 [A/T] NM_198531 ATP9B EXON Missense_M991K exm1394469 18 77133899 [C/G] NM_198531 ATP9B EXON Synonymous_G1024G exm1394477 18 77133945 [A/G] NM_198531 ATP9B EXON Missense_V1040I exm1394531 18 77170454 [T/C] NM_006162,NM_172390,NM_172388,NM_172387,NM_172389 NFATC1,NFATC1,NFATC1,NFATC1,NFATC1 EXON Missense_T60M,Missense_T60M,Silent,Missense_T47M,Missense_T47M exm1394534 18 77170477 [A/C] NM_006162,NM_172390,NM_172388,NM_172387,NM_172389 NFATC1,NFATC1,NFATC1,NFATC1,NFATC1 EXON Missense_P68T,Missense_P68T,Silent,Missense_P55T,Missense_P55T exm2253563 18 77170479 [A/G] NM_006162,NM_172390,NM_172388,NM_172387,NM_172389 NFATC1,NFATC1,NFATC1,NFATC1,NFATC1 EXON Synonymous_P68P,Synonymous_P68P,Silent,Synonymous_P55P,Synonymous_P55P exm1394538 18 77170505 [T/C] NM_006162,NM_172390,NM_172388,NM_172387,NM_172389 NFATC1,NFATC1,NFATC1,NFATC1,NFATC1 EXON Missense_P77L,Missense_P77L,Silent,Missense_P64L,Missense_P64L exm1394544 18 77170543 [A/G] NM_006162,NM_172390,NM_172388,NM_172387,NM_172389 NFATC1,NFATC1,NFATC1,NFATC1,NFATC1 EXON Missense_G90R,Missense_G90R,Silent,Missense_G77R,Missense_G77R exm1394555 18 77170858 [T/C] NM_006162,NM_172390,NM_172388,NM_172387,NM_172389 NFATC1,NFATC1,NFATC1,NFATC1,NFATC1 EXON Missense_Y195H,Missense_Y195H,Silent,Missense_Y182H,Missense_Y182H exm1394559 18 77170903 [A/G] NM_006162,NM_172390,NM_172388,NM_172387,NM_172389 NFATC1,NFATC1,NFATC1,NFATC1,NFATC1 EXON Missense_V210M,Missense_V210M,Silent,Missense_V197M,Missense_V197M exm1394570 18 77171053 [A/G] NM_006162,NM_172390,NM_172388,NM_172387,NM_172389 NFATC1,NFATC1,NFATC1,NFATC1,NFATC1 EXON Missense_A260T,Missense_A260T,Silent,Missense_A247T,Missense_A247T exm1394573 18 77171089 [A/G] NM_006162,NM_172390,NM_172388,NM_172387,NM_172389 NFATC1,NFATC1,NFATC1,NFATC1,NFATC1 EXON Missense_G272S,Missense_G272S,Silent,Missense_G259S,Missense_G259S exm1394581 18 77171164 [A/G] NM_006162,NM_172390,NM_172388,NM_172387,NM_172389 NFATC1,NFATC1,NFATC1,NFATC1,NFATC1 EXON Missense_D297N,Missense_D297N,Silent,Missense_D284N,Missense_D284N exm2275011 18 77171171 [T/C] NM_006162,NM_172390,NM_172388,NM_172387,NM_172389 NFATC1,NFATC1,NFATC1,NFATC1,NFATC1 EXON Missense_S299L,Missense_S299L,Silent,Missense_S286L,Missense_S286L exm2253564 18 77171367 [T/C] NM_006162,NM_172390,NM_172388,NM_172387,NM_172389 NFATC1,NFATC1,NFATC1,NFATC1,NFATC1 EXON Synonymous_A364A,Synonymous_A364A,Silent,Synonymous_A351A,Synonymous_A351A exm1394597 18 77171386 [T/G] NM_006162,NM_172390,NM_172388,NM_172387,NM_172389 NFATC1,NFATC1,NFATC1,NFATC1,NFATC1 EXON Missense_Y371D,Missense_Y371D,Silent,Missense_Y358D,Missense_Y358D exm1394598 18 77171390 [A/C] NM_006162,NM_172390,NM_172388,NM_172387,NM_172389 NFATC1,NFATC1,NFATC1,NFATC1,NFATC1 EXON Missense_S372Y,Missense_S372Y,Silent,Missense_S359Y,Missense_S359Y exm1394619 18 77208837 [T/C] NM_006162,NM_172390,NM_172388,NM_172387,NM_172389 NFATC1,NFATC1,NFATC1,NFATC1,NFATC1 EXON Missense_A481V,Missense_A481V,Missense_A9V,Missense_A468V,Missense_A468V exm1394631 18 77208952 [A/C] NM_006162,NM_172390,NM_172388,NM_172387,NM_172389 NFATC1,NFATC1,NFATC1,NFATC1,NFATC1 EXON Synonymous_I519I,Synonymous_I519I,Synonymous_I47I,Synonymous_I506I,Synonymous_I506I exm1394638 18 77211052 [T/G] NM_006162,NM_172390,NM_172388,NM_172387,NM_172389 NFATC1,NFATC1,NFATC1,NFATC1,NFATC1 EXON Missense_V563G,Missense_V563G,Missense_V91G,Missense_V550G,Missense_V550G exm1394641 18 77211081 [A/G] NM_006162,NM_172390,NM_172388,NM_172387,NM_172389 NFATC1,NFATC1,NFATC1,NFATC1,NFATC1 EXON Missense_G573S,Missense_G573S,Missense_G101S,Missense_G560S,Missense_G560S exm1394663 18 77227462 [A/G] NM_006162,NM_172390,NM_172388,NM_172387,NM_172389 NFATC1,NFATC1,NFATC1,NFATC1,NFATC1 EXON Missense_V658I,Missense_V658I,Missense_V186I,Missense_V645I,Missense_V645I exm2228088 18 77227504 [A/G] NM_006162,NM_172390,NM_172388,NM_172387,NM_172389 NFATC1,NFATC1,NFATC1,NFATC1,NFATC1 EXON Missense_V672I,Missense_V672I,Missense_V200I,Missense_V659I,Missense_V659I exm1394676 18 77227591 [A/C] NM_006162,NM_172390,NM_172388,NM_172387,NM_172389 NFATC1,NFATC1,NFATC1,NFATC1,NFATC1 EXON Silent,Missense_I701L,Silent,Silent,Silent exm1394678 18 77227610 [A/G] NM_006162,NM_172390,NM_172388,NM_172387,NM_172389 NFATC1,NFATC1,NFATC1,NFATC1,NFATC1 EXON Silent,Missense_R707H,Silent,Silent,Silent exm1394688 18 77246368 [A/C] NM_006162,NM_172388,NM_172387,NM_172389 NFATC1,NFATC1,NFATC1,NFATC1 EXON Missense_P738H,Missense_P266H,Missense_P725H,Missense_P725H exm1394691 18 77246406 [T/G] NM_006162,NM_172388,NM_172387,NM_172389 NFATC1,NFATC1,NFATC1,NFATC1 EXON Missense_C751G,Missense_C279G,Missense_C738G,Missense_C738G exm1394704 18 77246527 [T/C] NM_006162,NM_172388,NM_172387,NM_172389 NFATC1,NFATC1,NFATC1,NFATC1 EXON Missense_P791L,Missense_P319L,Missense_P778L,Missense_P778L exm2273566 18 77287796 [T/C] NM_006162,NM_172388,NM_172387,NM_172389 NFATC1,NFATC1,NFATC1,NFATC1 EXON Silent,Silent,Silent,Silent exm2260815 18 77288806 [T/C] NM_006162,NM_172388,NM_172387,NM_172389 NFATC1,NFATC1,NFATC1,NFATC1 EXON Silent,Silent,Silent,Silent exm1394745 18 77455227 [T/C] NM_004715,NM_048368,NM_001202504 CTDP1,CTDP1,CTDP1 EXON Missense_A106V,Missense_A106V,Silent exm1394748 18 77455308 [A/G] NM_004715,NM_048368,NM_001202504 CTDP1,CTDP1,CTDP1 EXON Missense_Q133R,Missense_Q133R,Missense_Q14R exm1394760 18 77464813 [T/C] NM_004715,NM_048368,NM_001202504 CTDP1,CTDP1,CTDP1 EXON Missense_T223M,Missense_T223M,Missense_T104M exm1394777 18 77473127 [T/C] NM_004715,NM_048368,NM_001202504 CTDP1,CTDP1,CTDP1 EXON Missense_T340M,Missense_T340M,Missense_T221M exm1394781 18 77474526 [T/C] NM_004715,NM_048368,NM_001202504 CTDP1,CTDP1,CTDP1 EXON Missense_S356P,Missense_S356P,Missense_S237P exm1394789 18 77474626 [T/C] NM_004715,NM_048368,NM_001202504 CTDP1,CTDP1,CTDP1 EXON Missense_A389V,Missense_A389V,Missense_A270V exm1394813 18 77475256 [A/G] NM_004715,NM_048368,NM_001202504 CTDP1,CTDP1,CTDP1 EXON Missense_R599H,Missense_R599H,Missense_R480H exm1394829 18 77477536 [T/C] NM_004715,NM_048368,NM_001202504 CTDP1,CTDP1,CTDP1 EXON Synonymous_G690G,Synonymous_G690G,Synonymous_G571G exm1394837 18 77477824 [T/C] NM_004715,NM_048368,NM_001202504 CTDP1,CTDP1,CTDP1 EXON Missense_A742V,Missense_A742V,Missense_A623V exm1394844 18 77477863 [T/C] NM_004715,NM_048368,NM_001202504 CTDP1,CTDP1,CTDP1 EXON Missense_L755S,Missense_L755S,Missense_L636S exm1394850 18 77477922 [A/G] NM_004715,NM_048368,NM_001202504 CTDP1,CTDP1,CTDP1 EXON Missense_D775N,Missense_D775N,Missense_D656N exm1394856 18 77477994 [T/C] NM_004715,NM_048368,NM_001202504 CTDP1,CTDP1,CTDP1 EXON Missense_R799C,Missense_R799C,Missense_R680C exm2228091 18 77488909 [A/C] NM_004715,NM_048368,NM_001202504 CTDP1,CTDP1,CTDP1 EXON Missense_A807E,Silent,Missense_A688E exm1394863 18 77488996 [A/G] NM_004715,NM_048368,NM_001202504 CTDP1,CTDP1,CTDP1 EXON Missense_R836Q,Silent,Missense_R717Q exm1394892 18 77513776 [A/C] NM_004715,NM_048368,NM_001202504 CTDP1,CTDP1,CTDP1 EXON Missense_N958H,Silent,Missense_N839H exm-rs4799088 18 77573548 [A/G] exm1394913 18 77624191 [T/C] NM_012283 KCNG2 EXON Missense_A175V exm1394916 18 77624211 [A/G] NM_012283 KCNG2 EXON Missense_V182M exm2260816 18 77634361 [T/C] NM_012283 KCNG2 Silent exm1394966 18 77659655 [A/G] NM_012283 KCNG2 EXON Missense_E414K exm1394987 18 77664150 [A/G] NM_001146345,NM_025078,NM_001146343 PQLC1,PQLC1,PQLC1 EXON Synonymous_D196D,Synonymous_D214D,Missense_T124M exm1394988 18 77664183 [A/G] NM_001146345,NM_025078,NM_001146343 PQLC1,PQLC1,PQLC1 EXON Synonymous_S185S,Synonymous_S203S,Missense_A113V exm1394989 18 77679192 [A/C] NM_001146345,NM_025078,NM_001146343 PQLC1,PQLC1,PQLC1 EXON Missense_E182D,Missense_E200D,Silent exm1394995 18 77679274 [A/G] NM_001146345,NM_025078,NM_001146343 PQLC1,PQLC1,PQLC1 EXON Missense_T155I,Missense_T173I,Silent exm1917738 18 77679290 [T/C] NM_001146345,NM_025078,NM_001146343 PQLC1,PQLC1,PQLC1 EXON Missense_A150T,Missense_A168T,Silent exm1395005 18 77679361 [A/G] NM_001146345,NM_025078,NM_001146343 PQLC1,PQLC1,PQLC1 EXON Missense_S126L,Missense_S144L,Silent exm1395006 18 77679376 [T/C] NM_001146345,NM_025078,NM_001146343 PQLC1,PQLC1,PQLC1 EXON Missense_Q121R,Missense_Q139R,Silent exm1395012 18 77703341 [A/G] NM_001146345,NM_025078,NM_001146343 PQLC1,PQLC1,PQLC1 EXON Missense_R109C,Missense_R109C,Missense_R109C exm1395014 18 77703344 [A/G] NM_001146345,NM_025078,NM_001146343 PQLC1,PQLC1,PQLC1 EXON Missense_R108C,Missense_R108C,Missense_R108C exm2268127 18 77708781 [A/G] NM_001146345,NM_025078,NM_001146343 PQLC1,PQLC1,PQLC1 Silent,Silent,Silent exm1395041 18 77728135 [T/G] NM_001136180 HSBP1L1 EXON Missense_K55N exm1395079 18 77797400 [T/C] NM_001171967,NM_024805 RBFA,RBFA EXON Missense_A91V,Missense_A91V exm1395083 18 77797492 [A/G] NM_001171967,NM_024805 RBFA,RBFA EXON Missense_V122M,Missense_V122M exm1395090 18 77798569 [A/G] NM_001171967,NM_024805 RBFA,RBFA EXON Missense_Q148R,Missense_Q148R exm1395091 18 77798572 [A/G] NM_001171967,NM_024805 RBFA,RBFA EXON Missense_N149S,Missense_N149S exm1395092 18 77798574 [A/G] NM_001171967,NM_024805 RBFA,RBFA EXON Missense_A150T,Missense_A150T exm1395097 18 77802196 [A/G] NM_001171967,NM_024805 RBFA,RBFA EXON Silent,Missense_K185E exm1395099 18 77804233 [A/G] NM_001171967,NM_024805 RBFA,RBFA EXON Synonymous_S171S,Missense_A200T exm1395104 18 77805799 [A/G] NM_001171967,NM_024805 RBFA,RBFA EXON Synonymous_A197A,Missense_G226S exm1395107 18 77805840 [T/C] NM_001171967,NM_024805 RBFA,RBFA EXON Missense_S211L,Synonymous_I239I exm1395113 18 77805896 [T/G] NM_001171967,NM_024805 RBFA,RBFA EXON Missense_G230C,Missense_G258V exm1395115 18 77805949 [A/C] NM_001171967,NM_024805 RBFA,RBFA EXON Silent,Missense_K276Q exm1395120 18 77806070 [A/G] NM_001171967,NM_024805 RBFA,RBFA EXON Silent,Missense_Y316C exm-rs2176729 18 77859855 [T/C] exm1395129 18 77891027 [A/C] NM_014913 ADNP2 EXON Missense_N50K exm1395130 18 77891038 [T/G] NM_014913 ADNP2 EXON Missense_G54V exm1395134 18 77893552 [A/G] NM_014913 ADNP2 EXON Missense_T86A exm1395152 18 77893957 [A/G] NM_014913 ADNP2 EXON Missense_N221D exm1395156 18 77893982 [T/C] NM_014913 ADNP2 EXON Missense_A229V exm1395171 18 77894270 [T/C] NM_014913 ADNP2 EXON Missense_A325V exm1395181 18 77894431 [A/G] NM_014913 ADNP2 EXON Missense_G379R exm1395182 18 77894470 [A/G] NM_014913 ADNP2 EXON Missense_I392V exm1395184 18 77894482 [G/C] NM_014913 ADNP2 EXON Missense_V396L exm1395185 18 77894486 [A/G] NM_014913 ADNP2 EXON Missense_R397H exm1395188 18 77894624 [T/C] NM_014913 ADNP2 EXON Missense_A443V exm1395198 18 77894783 [A/G] NM_014913 ADNP2 EXON Missense_R496Q exm1395200 18 77894813 [T/C] NM_014913 ADNP2 EXON Missense_L506S exm-rs3744877 18 77894844 [A/G] NM_014913 ADNP2 EXON Synonymous_P516P exm1395202 18 77894865 [A/C] NM_014913 ADNP2 EXON Missense_N523K exm2253570 18 77895078 [A/G] NM_014913 ADNP2 EXON Synonymous_T594T exm1395226 18 77895286 [T/G] NM_014913 ADNP2 EXON Missense_V664L exm1395228 18 77895310 [A/G] NM_014913 ADNP2 EXON Missense_V672M exm1395229 18 77895325 [T/G] NM_014913 ADNP2 EXON Missense_S677A exm1395244 18 77895740 [A/G] NM_014913 ADNP2 EXON Missense_N815S exm1395267 18 77896253 [A/G] NM_014913 ADNP2 EXON Missense_G986E exm1395274 18 77896331 [T/C] NM_014913 ADNP2 EXON Missense_T1012M exm1395278 18 77896427 [A/G] NM_014913 ADNP2 EXON Missense_K1044R exm1395280 18 77896442 [A/G] NM_014913 ADNP2 EXON Missense_R1049H exm1395318 18 77918244 [A/G] NR_028339,NR_028340,NM_032510 PARD6G-AS1,PARD6G-AS1,PARD6G EXON Silent,Silent,Missense_R181C exm2253571 18 77918425 [T/C] NR_028339,NR_028340,NM_032510 PARD6G-AS1,PARD6G-AS1,PARD6G EXON Silent,Silent,Synonymous_A120A exm1395356 19 281405 [A/G] NM_003712,NM_177526,NM_177543 PPAP2C,PPAP2C,PPAP2C EXON Missense_P284S,Missense_P228S,Missense_P305S exm1395359 19 281468 [A/G] NM_003712,NM_177526,NM_177543 PPAP2C,PPAP2C,PPAP2C EXON Missense_R263W,Missense_R207W,Missense_R284W exm1395362 19 282148 [C/G] NM_003712,NM_177526,NM_177543 PPAP2C,PPAP2C,PPAP2C EXON Missense_V235L,Missense_V179L,Missense_V256L exm1395364 19 282181 [T/C] NM_003712,NM_177526,NM_177543 PPAP2C,PPAP2C,PPAP2C EXON Missense_D224N,Missense_D168N,Missense_D245N exm1395370 19 282274 [A/G] NM_003712,NM_177526,NM_177543 PPAP2C,PPAP2C,PPAP2C EXON Missense_R193W,Missense_R137W,Missense_R214W exm1395372 19 282285 [T/C] NM_003712,NM_177526,NM_177543 PPAP2C,PPAP2C,PPAP2C EXON Nonsense_W189X,Nonsense_W133X,Nonsense_W210X exm1395377 19 282753 [A/G] NM_003712,NM_177526,NM_177543 PPAP2C,PPAP2C,PPAP2C EXON Missense_A180V,Missense_A124V,Missense_A201V exm1395380 19 282795 [A/G] NM_003712,NM_177526,NM_177543 PPAP2C,PPAP2C,PPAP2C EXON Missense_S166L,Missense_S110L,Missense_S187L exm1395389 19 287546 [T/C] NM_003712,NM_177526,NM_177543 PPAP2C,PPAP2C,PPAP2C EXON Missense_R137Q,Missense_R81Q,Missense_R158Q exm1395400 19 287703 [A/G] NM_003712,NM_177526,NM_177543 PPAP2C,PPAP2C,PPAP2C EXON Missense_R85C,Missense_R29C,Missense_R106C exm1395405 19 288028 [T/C] NM_003712,NM_177526,NM_177543 PPAP2C,PPAP2C,PPAP2C EXON Missense_V66I,Missense_V10I,Missense_V87I exm2253750 19 288062 [A/G] NM_003712,NM_177526,NM_177543 PPAP2C,PPAP2C,PPAP2C EXON Synonymous_H54H,Silent,Synonymous_H75H exm1395412 19 288109 [T/C] NM_003712,NM_177526,NM_177543 PPAP2C,PPAP2C,PPAP2C EXON Missense_G39R,Silent,Missense_G60R exm1395413 19 288123 [T/C] NM_003712,NM_177526,NM_177543 PPAP2C,PPAP2C,PPAP2C EXON Missense_R34Q,Silent,Missense_R55Q exm1395436 19 307163 [T/G] NM_017550 MIER2 EXON Missense_H524Q exm1395440 19 307282 [T/C] NM_017550 MIER2 EXON Missense_S485G exm2253760 19 307349 [T/C] NM_017550 MIER2 EXON Synonymous_P462P exm1395460 19 308618 [T/C] NM_017550 MIER2 EXON Missense_R386H exm1395465 19 308813 [A/G] NM_017550 MIER2 EXON Missense_P366L exm1395484 19 312215 [A/G] NM_017550 MIER2 EXON Missense_R289W exm1395498 19 313539 [T/C] NM_017550 MIER2 EXON Missense_A254T exm1395515 19 326527 [A/G] NM_017550 MIER2 EXON Missense_P189S exm1395527 19 327207 [T/C] NM_017550 MIER2 EXON Missense_Q140R exm1395529 19 327246 [A/G] NM_017550 MIER2 EXON Missense_A127V exm1395531 19 327253 [T/G] NM_017550 MIER2 EXON Missense_Q125K exm1395533 19 327887 [C/G] NM_017550 MIER2 EXON Missense_L116V exm1395535 19 327892 [A/G] NM_017550 MIER2 EXON Missense_P114L exm1395540 19 327920 [A/G] NM_017550 MIER2 EXON Missense_R105W exm1395549 19 334440 [T/G] NM_017550 MIER2 EXON Missense_D68A exm1395554 19 334472 [G/C] NM_017550 MIER2 EXON Missense_R57S exm1395557 19 334479 [C/G] NM_017550 MIER2 EXON Missense_S55T exm2228895 19 334504 [T/C] NM_017550 MIER2 EXON Missense_A47T exm1395561 19 334544 [T/C] NM_017550 MIER2 Silent exm1395567 19 336140 [A/C] NM_017550 MIER2 EXON Missense_V15F exm1395580 19 362283 [T/C] NM_199202,NM_016585 THEG,THEG EXON Missense_D329N,Missense_D353N exm2228995 19 362336 [T/C] NM_199202,NM_016585 THEG,THEG EXON Missense_R311Q,Missense_R335Q exm1395595 19 367089 [A/G] NM_199202,NM_016585 THEG,THEG EXON Missense_H273Y,Missense_H297Y exm1395599 19 367178 [T/C] NM_199202,NM_016585 THEG,THEG EXON Missense_R243Q,Missense_R267Q exm1395604 19 371213 [T/C] NM_199202,NM_016585 THEG,THEG EXON Missense_M225V,Missense_M249V exm1395610 19 371266 [T/C] NM_199202,NM_016585 THEG,THEG EXON Missense_R207H,Missense_R231H exm1395617 19 372635 [T/C] NM_199202,NM_016585 THEG,THEG EXON Missense_N187D,Missense_N211D exm1395621 19 372689 [A/G] NM_199202,NM_016585 THEG,THEG EXON Missense_R169C,Missense_R193C exm1395625 19 373470 [T/C] NM_199202,NM_016585 THEG,THEG EXON Missense_A165T,Missense_A189T exm1395626 19 373485 [T/C] NM_199202,NM_016585 THEG,THEG EXON Missense_T160A,Missense_T184A exm1395628 19 373508 [T/C] NM_199202,NM_016585 THEG,THEG EXON Missense_R152Q,Missense_R176Q exm1395631 19 373531 [T/C] NM_199202,NM_016585 THEG,THEG EXON Synonymous_R144R,Nonsense_W168X exm2275012 19 373944 [A/G] NM_199202,NM_016585 THEG,THEG EXON Silent,Missense_C167R exm1395640 19 373998 [T/C] NM_199202,NM_016585 THEG,THEG EXON Silent,Missense_G149S exm1395642 19 374004 [A/G] NM_199202,NM_016585 THEG,THEG EXON Silent,Missense_R147C exm1395653 19 374338 [A/C] NM_199202,NM_016585 THEG,THEG EXON Missense_L131R,Missense_L131R exm1395655 19 374357 [A/G] NM_199202,NM_016585 THEG,THEG EXON Missense_R125W,Missense_R125W exm1395657 19 374365 [G/C] NM_199202,NM_016585 THEG,THEG EXON Missense_R122T,Missense_R122T exm1395670 19 375735 [T/C] NM_199202,NM_016585 THEG,THEG EXON Missense_D79G,Missense_D79G exm1395673 19 375760 [T/C] NM_199202,NM_016585 THEG,THEG EXON Missense_G71R,Missense_G71R exm1395676 19 375774 [T/G] NM_199202,NM_016585 THEG,THEG EXON Missense_P66H,Missense_P66H exm1395682 19 375832 [A/G] NM_199202,NM_016585 THEG,THEG EXON Missense_R47C,Missense_R47C exm1395683 19 375835 [T/C] NM_199202,NM_016585 THEG,THEG EXON Missense_E46K,Missense_E46K exm1395684 19 375849 [T/C] NM_199202,NM_016585 THEG,THEG EXON Missense_R41Q,Missense_R41Q exm1395687 19 375855 [T/C] NM_199202,NM_016585 THEG,THEG EXON Missense_S39N,Missense_S39N exm1395692 19 375882 [T/C] NM_199202,NM_016585 THEG,THEG EXON Missense_R30H,Missense_R30H exm1395698 19 375909 [A/G] NM_199202,NM_016585 THEG,THEG EXON Missense_S21L,Missense_S21L exm1395702 19 375957 [T/C] NM_199202,NM_016585 THEG,THEG EXON Missense_R5K,Missense_R5K exm1395703 19 376008 [T/C] NM_199202,NM_016585 THEG,THEG EXON Silent,Silent exm2253843 19 407900 [A/G] NM_001136263 C2CD4C EXON Synonymous_A154A exm1395717 19 407974 [A/G] NM_001136263 C2CD4C EXON Missense_P130S exm2253844 19 408200 [C/G] NM_001136263 C2CD4C EXON Synonymous_P54P exm1395725 19 408325 [A/G] NM_001136263 C2CD4C EXON Missense_R13W exm1395727 19 418948 [T/C] NM_012435 SHC2 EXON Missense_V577M exm1395738 19 422171 [A/C] NM_012435 SHC2 EXON Missense_L532R exm1395740 19 422199 [T/C] NM_012435 SHC2 EXON Missense_G523S exm1395745 19 422229 [T/C] NM_012435 SHC2 EXON Missense_V513I exm1395753 19 422283 [A/G] NM_012435 SHC2 EXON Missense_R495W exm1395777 19 430690 [T/C] NM_012435 SHC2 EXON Missense_G390S exm1395786 19 434847 [A/C] NM_012435 SHC2 EXON Missense_E324D exm1395787 19 434848 [T/C] NM_012435 SHC2 EXON Missense_E324G exm1395791 19 436181 [A/C] NM_012435 SHC2 EXON Missense_A313S exm2275013 19 436240 [A/G] NM_012435 SHC2 EXON Missense_T293I exm1395795 19 436245 [G/C] NM_012435 SHC2 EXON Missense_I291M exm1395803 19 436630 [T/C] NM_012435 SHC2 EXON Synonymous_T258T exm1395812 19 438830 [T/C] NM_012435 SHC2 EXON Missense_N203S exm1395818 19 440874 [A/G] NM_012435 SHC2 EXON Missense_T176M exm1395823 19 440907 [T/C] NM_012435 SHC2 EXON Missense_R165H exm2253899 19 460883 [T/C] NM_012435 SHC2 EXON Synonymous_A38A exm1395840 19 463855 [A/G] NM_182577 ODF3L2 EXON Missense_R287C exm1395860 19 464092 [T/C] NM_182577 ODF3L2 EXON Missense_D208N exm1395867 19 464148 [A/G] NM_182577 ODF3L2 EXON Missense_T189I exm1395868 19 464158 [T/C] NM_182577 ODF3L2 EXON Missense_V186M exm2253908 19 464207 [A/C] NM_182577 ODF3L2 EXON Synonymous_L169L exm1395878 19 467664 [A/G] NM_182577 ODF3L2 EXON Missense_R112W exm1395882 19 467706 [A/G] NM_182577 ODF3L2 EXON Missense_R98C exm1395897 19 474622 [A/G] NM_182577 ODF3L2 EXON Synonymous_N42N exm1395931 19 498782 [A/G] NM_130760,NM_130762 MADCAM1,MADCAM1 EXON Missense_M208I,Missense_M208I exm1395932 19 501695 [T/C] NM_130760,NM_130762 MADCAM1,MADCAM1 EXON Missense_P232S,Silent exm1395957 19 501900 [A/C] NM_130760,NM_130762 MADCAM1,MADCAM1 EXON Missense_P300H,Silent exm1395960 19 501909 [A/G] NM_130760,NM_130762 MADCAM1,MADCAM1 EXON Missense_G303E,Silent exm1395962 19 504745 [T/C] NM_130760,NM_130762 MADCAM1,MADCAM1 EXON Missense_S310L,Missense_A223V exm1395963 19 504746 [A/G] NM_130760,NM_130762 MADCAM1,MADCAM1 EXON Synonymous_S310S,Synonymous_A223A exm1395965 19 504774 [A/G] NM_130760,NM_130762 MADCAM1,MADCAM1 EXON Missense_A320T,Missense_A233T exm1395967 19 504796 [T/C] NM_130760,NM_130762 MADCAM1,MADCAM1 EXON Missense_A327V,Missense_A240V exm2253942 19 504797 [A/G] NM_130760,NM_130762 MADCAM1,MADCAM1 EXON Synonymous_A327A,Synonymous_A240A exm1395970 19 504853 [A/G] NM_130760,NM_130762 MADCAM1,MADCAM1 EXON Missense_R346Q,Missense_R259Q exm1395976 19 504920 [C/G] NM_130760,NM_130762 MADCAM1,MADCAM1 EXON Missense_W368C,Missense_W281C exm1395978 19 504948 [A/G] NM_130760,NM_130762 MADCAM1,MADCAM1 EXON Missense_G378R,Missense_G291R exm1396025 19 536271 [A/C] NM_004359 CDC34 EXON Missense_H98P exm1396050 19 541442 [A/G] NM_004359 CDC34 EXON Missense_E201K exm1396058 19 541523 [T/G] NM_004359 CDC34 EXON Nonsense_E228X exm2253995 19 544108 [T/C] NM_005317,NM_001258351 GZMM,GZMM EXON Synonymous_L13L,Silent exm1396073 19 547333 [T/C] NM_005317,NM_001258351 GZMM,GZMM EXON Missense_R37C,Silent exm1396074 19 547346 [T/C] NM_005317,NM_001258351 GZMM,GZMM EXON Missense_A41V,Missense_A2V exm1396091 19 548612 [A/G] NM_005317,NM_001258351 GZMM,GZMM EXON Missense_A95T,Missense_A56T exm1396092 19 548630 [A/C] NM_005317,NM_001258351 GZMM,GZMM EXON Missense_R101S,Missense_R62S exm1396102 19 548955 [T/C] NM_005317,NM_001258351 GZMM,GZMM EXON Missense_R128W,Missense_R89W exm1396103 19 548959 [T/C] NM_005317,NM_001258351 GZMM,GZMM EXON Missense_P129L,Missense_P90L exm1396106 19 548979 [T/C] NM_005317,NM_001258351 GZMM,GZMM EXON Missense_R136C,Missense_R97C exm1396113 19 549055 [A/G] NM_005317,NM_001258351 GZMM,GZMM EXON Missense_R161Q,Missense_R122Q exm1396114 19 549063 [T/C] NM_005317,NM_001258351 GZMM,GZMM EXON Missense_R164W,Missense_R125W exm1396118 19 549094 [A/G] NM_005317,NM_001258351 GZMM,GZMM EXON Missense_R174H,Missense_R135H exm1396123 19 549171 [T/C] NM_005317,NM_001258351 GZMM,GZMM EXON Nonsense_Q200X,Nonsense_Q161X exm1396127 19 549667 [A/G] NM_005317,NM_001258351 GZMM,GZMM EXON Missense_R217Q,Missense_R178Q exm1396128 19 549678 [A/G] NM_005317,NM_001258351 GZMM,GZMM EXON Missense_R221G,Missense_R182G exm1396134 19 549777 [A/G] NM_005317,NM_001258351 GZMM,GZMM EXON Missense_G254S,Missense_G215S exm1396135 19 549781 [A/G] NM_005317,NM_001258351 GZMM,GZMM EXON Missense_R255Q,Missense_R216Q exm1396150 19 572671 [G/C] NM_198591,NM_198590,NM_198589,NM_001728 BSG,BSG,BSG,BSG EXON Silent,Silent,Missense_L13V,Missense_L13V exm1396151 19 572680 [A/G] NM_198591,NM_198590,NM_198589,NM_001728 BSG,BSG,BSG,BSG EXON Silent,Silent,Missense_T16A,Missense_T16A exm1396152 19 577782 [T/G] NM_198591,NM_198590,NM_198589,NM_001728 BSG,BSG,BSG,BSG EXON Silent,Silent,Silent,Missense_V26F exm1396158 19 577845 [A/G] NM_198591,NM_198590,NM_198589,NM_001728 BSG,BSG,BSG,BSG EXON Silent,Silent,Silent,Missense_V47M exm1396177 19 578106 [A/G] NM_198591,NM_198590,NM_198589,NM_001728 BSG,BSG,BSG,BSG EXON Silent,Silent,Silent,Missense_V134M exm1396186 19 579506 [T/C] NM_198591,NM_198590,NM_198589,NM_001728 BSG,BSG,BSG,BSG EXON Silent,Silent,Missense_T25I,Missense_T141I exm1953398 19 580389 [G/C] NM_198591,NM_198590,NM_198589,NM_001728 BSG,BSG,BSG,BSG EXON Missense_D15H,Silent,Missense_D79H,Missense_D195H exm1953448 19 580750 [A/G] NM_198591,NM_198590,NM_198589,NM_001728 BSG,BSG,BSG,BSG EXON Missense_A74T,Missense_A45T,Missense_A138T,Missense_A254T exm1396232 19 581568 [A/G] NM_198591,NM_198590,NM_198589,NM_001728 BSG,BSG,BSG,BSG EXON Missense_R169Q,Missense_R140Q,Missense_R233Q,Missense_R349Q exm1953542 19 581582 [A/G] NM_198591,NM_198590,NM_198589,NM_001728 BSG,BSG,BSG,BSG EXON Missense_V174I,Missense_V145I,Missense_V238I,Missense_V354I exm1953590 19 582310 [T/C] NM_198591,NM_198590,NM_198589,NM_001728 BSG,BSG,BSG,BSG EXON Synonymous_D178D,Synonymous_D149D,Synonymous_D242D,Synonymous_D358D exm1396239 19 582314 [A/G] NM_198591,NM_198590,NM_198589,NM_001728 BSG,BSG,BSG,BSG EXON Missense_A180T,Missense_A151T,Missense_A244T,Missense_A360T exm1396287 19 603749 [A/G] NM_001194 HCN2 EXON Missense_E280K exm1396401 19 617466 [A/G] NM_005035 POLRMT EXON Missense_L1199S exm1396415 19 617634 [A/G] NM_005035 POLRMT EXON Missense_R1173C exm1396451 19 619011 [T/C] NM_005035 POLRMT EXON Missense_D1085N exm1396497 19 620393 [A/G] NM_005035 POLRMT EXON Missense_A912V exm1396559 19 622193 [A/C] NM_005035 POLRMT EXON Missense_V603F exm1396562 19 622207 [T/C] NM_005035 POLRMT EXON Missense_R598H exm1396592 19 622945 [A/G] NM_005035 POLRMT EXON Missense_A444V exm1396600 19 623495 [T/C] NM_005035 POLRMT EXON Missense_V417M exm1396615 19 624757 [T/C] NM_005035 POLRMT EXON Missense_V368I exm1954721 19 624763 [A/G] NM_005035 POLRMT EXON Missense_P366S exm1396626 19 624894 [A/T] NM_005035 POLRMT EXON Missense_Q322L exm1396682 19 630096 [A/G] NM_005035 POLRMT EXON Missense_A89V exm1396711 19 643250 [A/G] NM_020637 FGF22 EXON Missense_R77H exm1954970 19 643333 [A/G] NM_020637 FGF22 EXON Missense_G105R exm1396733 19 643492 [A/G] NM_020637 FGF22 EXON Missense_R134H exm1396734 19 643495 [A/G] NM_020637 FGF22 EXON Missense_R135H exm1396786 19 648401 [T/C] NM_194460 RNF126 EXON Missense_D253N exm1396791 19 648906 [T/C] NM_194460 RNF126 EXON Missense_V216I exm1396798 19 650280 [T/C] NM_194460 RNF126 EXON Missense_V154I exm1396808 19 651704 [A/G] NM_194460 RNF126 EXON Missense_P117L exm2254083 19 651769 [T/C] NM_194460 RNF126 EXON Synonymous_T95T exm1396835 19 652246 [T/C] NM_194460 RNF126 EXON Missense_R62Q exm1396840 19 652838 [A/G] NM_194460 RNF126 EXON Missense_P41L exm1955568 19 685721 [T/C] NM_214710 PRSS57 EXON Missense_A283T exm1396894 19 685736 [A/G] NM_214710 PRSS57 EXON Missense_P278S exm1396895 19 685748 [T/C] NM_214710 PRSS57 EXON Missense_G274R exm1396905 19 685832 [T/C] NM_214710 PRSS57 EXON Missense_D246N exm1396913 19 685913 [T/C] NM_214710 PRSS57 EXON Missense_G219R exm1396921 19 686965 [T/C] NM_214710 PRSS57 EXON Missense_C202Y exm1396925 19 687016 [C/G] NM_214710 PRSS57 EXON Missense_P185R exm1396931 19 687077 [T/C] NM_214710 PRSS57 EXON Missense_V165M exm1396939 19 687112 [A/G] NM_214710 PRSS57 EXON Missense_A153V exm1396942 19 687142 [A/G] NM_214710 PRSS57 EXON Missense_P143L exm1396943 19 687176 [G/C] NM_214710 PRSS57 EXON Missense_A132P exm1396960 19 691973 [T/C] NM_214710 PRSS57 EXON Missense_G89D exm1396976 19 694944 [T/C] NM_214710 PRSS57 EXON Missense_G36R exm1396994 19 727021 [A/G] NM_002579,NM_001040134 PALM,PALM EXON Missense_R24Q,Missense_R24Q exm1955815 19 731135 [A/G] NM_002579,NM_001040134 PALM,PALM EXON Missense_A104T,Missense_A104T exm1397017 19 731144 [A/G] NM_002579,NM_001040134 PALM,PALM EXON Missense_T107A,Missense_T107A exm1397031 19 736022 [A/T] NM_002579,NM_001040134 PALM,PALM EXON Missense_K149M,Missense_K149M exm1397042 19 740436 [A/G] NM_002579,NM_001040134 PALM,PALM EXON Missense_R196Q,Silent exm1397052 19 746317 [A/G] NM_002579,NM_001040134 PALM,PALM EXON Missense_G223R,Missense_G179R exm1397056 19 746350 [A/G] NM_002579,NM_001040134 PALM,PALM EXON Missense_E234K,Missense_E190K exm1397086 19 746692 [T/G] NM_002579,NM_001040134 PALM,PALM EXON Missense_A348S,Missense_A304S exm1397097 19 756954 [A/G] NM_173481 C19orf21 EXON Missense_R3H exm1397103 19 757037 [T/C] NM_173481 C19orf21 EXON Missense_Y31H exm1397114 19 757185 [A/G] NM_173481 C19orf21 EXON Missense_R80Q exm1397115 19 757197 [T/C] NM_173481 C19orf21 EXON Missense_S84L exm1397117 19 757241 [A/G] NM_173481 C19orf21 EXON Missense_A99T exm1397119 19 757263 [A/G] NM_173481 C19orf21 EXON Missense_R106H exm1397123 19 757319 [T/C] NM_173481 C19orf21 EXON Missense_R125C exm1397124 19 757320 [A/G] NM_173481 C19orf21 EXON Missense_R125H exm1397143 19 757509 [C/G] NM_173481 C19orf21 EXON Missense_R188T exm1397148 19 757546 [A/C] NM_173481 C19orf21 EXON Missense_F200L exm1397158 19 757641 [A/G] NM_173481 C19orf21 EXON Missense_K232R exm1397165 19 757752 [A/G] NM_173481 C19orf21 EXON Missense_S269N exm1397170 19 757868 [T/C] NM_173481 C19orf21 EXON Nonsense_R308X exm1397171 19 757887 [A/G] NM_173481 C19orf21 EXON Missense_R314Q exm1397176 19 757968 [A/G] NM_173481 C19orf21 EXON Missense_R341Q exm1397178 19 757971 [A/G] NM_173481 C19orf21 EXON Missense_R342Q exm2276954 19 758091 [A/C] NM_173481 C19orf21 EXON Nonsense_S382X exm2230442 19 758108 [A/G] NM_173481 C19orf21 EXON Missense_G388R exm1397190 19 758114 [T/C] NM_173481 C19orf21 EXON Missense_R390W exm1397192 19 758121 [T/C] NM_173481 C19orf21 EXON Missense_A392V exm1397196 19 758174 [T/C] NM_173481 C19orf21 EXON Missense_P410S exm1397210 19 758274 [T/C] NM_173481 C19orf21 EXON Missense_A443V exm1397225 19 758466 [A/G] NM_173481 C19orf21 EXON Missense_R507H exm1397226 19 758474 [T/C] NM_173481 C19orf21 EXON Missense_R510W exm1397239 19 758612 [T/C] NM_173481 C19orf21 EXON Missense_R556C exm1397240 19 758613 [A/G] NM_173481 C19orf21 EXON Missense_R556H exm1397246 19 758726 [A/G] NM_173481 C19orf21 EXON Missense_G594S exm1397253 19 760041 [T/A] NM_173481 C19orf21 Silent exm1397258 19 761649 [A/G] NM_173481 C19orf21 EXON Missense_G646S exm1397259 19 761664 [A/G] NM_173481 C19orf21 Silent exm1397266 19 763523 [A/C] NM_173481 C19orf21 EXON Missense_T658N exm1397299 19 804080 [A/G] NM_031991,NM_002819,NM_031990 PTBP1,PTBP1,PTBP1 EXON Missense_A54T,Missense_A54T,Missense_A54T exm1397337 19 804908 [T/C] NM_031991,NM_002819,NM_031990 PTBP1,PTBP1,PTBP1 EXON Missense_A229V,Missense_A229V,Missense_A229V exm1397373 19 806556 [A/G] NM_031991,NM_002819,NM_031990 PTBP1,PTBP1,PTBP1 EXON Synonymous_E347E,Synonymous_E373E,Synonymous_E366E exm1397405 19 810598 [A/G] NM_031991,NM_002819,NM_031990 PTBP1,PTBP1,PTBP1 EXON Missense_V481I,Missense_V507I,Missense_V500I exm1397428 19 813142 [T/C] NM_001270366,NM_024888 LPPR3,LPPR3 EXON Missense_A529T,Missense_A557T exm1397429 19 813157 [A/C] NM_001270366,NM_024888 LPPR3,LPPR3 EXON Nonsense_E524X,Nonsense_E552X exm1397463 19 814526 [C/G] NM_001270366,NM_024888 LPPR3,LPPR3 EXON Missense_V247L,Missense_V275L exm1397472 19 814684 [A/G] NM_001270366,NM_024888 LPPR3,LPPR3 EXON Silent,Missense_P222L exm1397480 19 814917 [T/C] NM_001270366,NM_024888 LPPR3,LPPR3 EXON Missense_G190S,Missense_G190S exm1397498 19 815234 [T/C] NM_001270366,NM_024888 LPPR3,LPPR3 EXON Missense_G119S,Missense_G119S exm1397502 19 815254 [A/G] NM_001270366,NM_024888 LPPR3,LPPR3 EXON Missense_A112V,Missense_A112V exm1397503 19 815258 [T/C] NM_001270366,NM_024888 LPPR3,LPPR3 EXON Missense_G111R,Missense_G111R exm1397508 19 815719 [A/G] NM_001270366,NM_024888 LPPR3,LPPR3 EXON Missense_L70F,Missense_L70F exm1397514 19 815800 [T/C] NM_001270366,NM_024888 LPPR3,LPPR3 EXON Missense_D43N,Missense_D43N exm1397518 19 815835 [A/G] NM_001270366,NM_024888 LPPR3,LPPR3 EXON Missense_S31F,Missense_S31F exm1397531 19 827904 [A/G] NM_001700 AZU1 EXON Missense_G20S exm1397535 19 828263 [A/G] NM_001700 AZU1 EXON Missense_R31Q exm1397546 19 829612 [A/G] NM_001700 AZU1 EXON Missense_R89Q exm1397547 19 829668 [T/G] NM_001700 AZU1 EXON Missense_D108Y exm1397554 19 830742 [T/C] NM_001700 AZU1 EXON Missense_T132M exm1397556 19 830768 [A/G] NM_001700 AZU1 EXON Missense_A141T exm1397557 19 830772 [T/C] NM_001700 AZU1 EXON Missense_T142M exm1397560 19 830820 [A/G] NM_001700 AZU1 EXON Missense_R158H exm1397563 19 830841 [A/G] NM_001700 AZU1 EXON Missense_R165H exm1397577 19 831776 [A/C] NM_001700 AZU1 EXON Missense_L219M exm1397607 19 844020 [A/G] NM_002777 PRTN3 EXON Missense_V119I exm1397614 19 846169 [A/G] NM_002777 PRTN3 EXON Missense_S131N exm1397622 19 846331 [T/A] NM_002777 PRTN3 EXON Missense_H185L exm1397635 19 847944 [A/G] NM_002777 PRTN3 EXON Missense_R249H exm1957680 19 856015 [A/G] NM_001972 ELANE EXON Missense_V219I exm1397678 19 856130 [T/C] NM_001972 ELANE EXON Missense_P257L exm1397681 19 856145 [T/C] NM_001972 ELANE EXON Missense_P262L exm1397700 19 861726 [A/G] NM_001928 CFD EXON Missense_A129T exm1397716 19 861916 [A/G] NM_001928 CFD EXON Missense_R192H exm1397720 19 861943 [A/G] NM_001928 CFD EXON Missense_R201Q exm1397728 19 863220 [C/G] NM_001928 CFD EXON Missense_I248M exm1397738 19 868108 [C/G] NM_005481 MED16 EXON Missense_R876P exm1397740 19 868115 [T/C] NM_005481 MED16 EXON Missense_E874K exm1397741 19 868127 [A/G] NM_005481 MED16 EXON Missense_H870Y exm1397762 19 868473 [A/G] NM_005481 MED16 EXON Missense_S809L exm1397763 19 868480 [A/G] NM_005481 MED16 EXON Missense_L807F exm1397776 19 871044 [A/G] NM_005481 MED16 EXON Missense_L770F exm1397780 19 871088 [A/G] NM_005481 MED16 EXON Missense_A755V exm1397785 19 871146 [A/C] NM_005481 MED16 EXON Missense_D736Y exm1397819 19 872045 [A/G] NM_005481 MED16 EXON Missense_V660A exm1397830 19 873516 [A/G] NM_005481 MED16 EXON Missense_A613V exm1397837 19 873577 [G/C] NM_005481 MED16 EXON Missense_D593H exm1397838 19 875245 [A/G] NM_005481 MED16 EXON Synonymous_V590V exm1397853 19 875364 [C/G] NM_005481 MED16 EXON Missense_L551V exm1397885 19 879945 [A/G] NM_005481 MED16 EXON Missense_H449Y exm1397886 19 879947 [T/C] NM_005481 MED16 EXON Missense_S448N exm1397891 19 879965 [G/C] NM_005481 MED16 EXON Missense_A442G exm1397897 19 880010 [A/G] NM_005481 MED16 EXON Missense_P427L exm1397899 19 880023 [A/G] NM_005481 MED16 EXON Missense_R423C exm1397907 19 880080 [T/C] NM_005481 MED16 EXON Missense_V404I exm1397913 19 880126 [A/G] NM_005481 MED16 EXON Synonymous_D388D exm1397918 19 881560 [A/G] NM_005481 MED16 EXON Synonymous_L380L exm1397925 19 881651 [T/C] NM_005481 MED16 EXON Missense_R350H exm1397939 19 885832 [A/G] NM_005481 MED16 EXON Missense_R273C exm1397981 19 891008 [A/G] NM_005481 MED16 EXON Nonsense_R42X exm1397986 19 891080 [T/C] NM_005481 MED16 EXON Missense_V18I exm1397987 19 891094 [A/G] NM_005481 MED16 EXON Missense_M13T exm1397991 19 891119 [A/G] NM_005481 MED16 EXON Missense_R5W exm1397998 19 897519 [T/C] NM_138774 R3HDM4 EXON Missense_R242Q exm1398014 19 900061 [T/C] NM_138774 R3HDM4 EXON Missense_M187I exm1398029 19 900951 [A/G] NM_138774 R3HDM4 EXON Missense_V118A exm1398035 19 901507 [A/G] NM_138774 R3HDM4 EXON Missense_L89P exm1398036 19 901511 [T/C] NM_138774 R3HDM4 EXON Missense_G88S exm1398081 19 920441 [T/G] NM_032551 KISS1R EXON Missense_R297L exm1398106 19 929844 [A/G] NM_005224 ARID3A EXON Missense_R106G exm1398110 19 929895 [A/G] NM_005224 ARID3A EXON Missense_M123V exm1398137 19 964870 [T/C] NM_005224 ARID3A EXON Missense_R330W exm1398149 19 966584 [T/C] NM_005224 ARID3A EXON Missense_A404V exm1398150 19 966607 [T/C] NM_005224 ARID3A EXON Missense_R412C exm2230602 19 966608 [A/G] NM_005224 ARID3A EXON Missense_R412H exm1398158 19 966785 [A/C] NM_005224 ARID3A EXON Missense_Q471P exm1398165 19 966854 [A/G] NM_005224 ARID3A EXON Missense_R494Q exm1398192 19 984370 [A/G] NM_024100 WDR18 EXON Missense_E6G exm1398222 19 990281 [A/G] NM_024100 WDR18 EXON Missense_A172T exm1398234 19 990891 [T/C] NM_024100 WDR18 EXON Missense_L213F exm1398237 19 990971 [G/C] NM_024100 WDR18 EXON Missense_I239M exm1398245 19 991097 [C/G] NM_024100 WDR18 EXON Missense_R253T exm1398247 19 991129 [A/G] NM_024100 WDR18 EXON Missense_V264I exm1398280 19 994074 [T/G] NM_024100 WDR18 EXON Missense_S385I exm1398287 19 994248 [A/G] NM_024100 WDR18 EXON Missense_V402M exm2268169 19 998126 [A/G] exm1398312 19 1003172 [T/C] NM_138690 GRIN3B EXON Missense_T157M exm1398316 19 1003221 [A/C] NM_138690 GRIN3B EXON Missense_D173E exm1398342 19 1003696 [A/G] NM_138690 GRIN3B EXON Missense_E332K exm1398358 19 1004740 [T/C] NM_138690 GRIN3B EXON Missense_W414R exm1398359 19 1004741 [A/G] NM_138690 GRIN3B EXON Nonsense_W414X exm1398363 19 1004792 [A/G] NM_138690 GRIN3B EXON Missense_R431H exm1398388 19 1004966 [A/G] NM_138690 GRIN3B EXON Missense_E489G exm1919040 19 1005070 [T/C] NM_138690 GRIN3B EXON Missense_R524W exm1919041 19 1005098 [T/G] NM_138690 GRIN3B EXON Missense_S533I exm1398406 19 1005173 [A/G] NM_138690 GRIN3B EXON Missense_R558Q exm1398410 19 1005224 [A/G] NM_138690 GRIN3B EXON Nonsense_W575X exm1398411 19 1005230 [T/C] NM_138690 GRIN3B EXON Missense_T577M exm1398419 19 1005292 [T/C] NM_138690 GRIN3B EXON Missense_R598C exm1398424 19 1005317 [A/G] NM_138690 GRIN3B EXON Missense_R606H exm1398429 19 1005337 [A/G] NM_138690 GRIN3B EXON Missense_V613I exm1398432 19 1005388 [T/C] NM_138690 GRIN3B EXON Missense_R630C exm1398453 19 1007866 [A/C] NM_138690 GRIN3B EXON Missense_P737H exm1398456 19 1007887 [T/C] NM_138690 GRIN3B EXON Missense_M744T exm1398457 19 1007896 [T/C] NM_138690 GRIN3B EXON Missense_S747L exm1398469 19 1008201 [T/C] NM_138690 GRIN3B EXON Missense_R793C exm1398470 19 1008216 [A/G] NM_138690 GRIN3B EXON Missense_G798S exm1398477 19 1008645 [A/C] NM_138690 GRIN3B EXON Missense_A832E exm1398481 19 1008704 [A/G] NM_138690 GRIN3B EXON Missense_E852K exm1919118 19 1008917 [T/C] NM_138690 GRIN3B EXON Missense_A898V exm1398494 19 1009189 [A/G] NM_138690 GRIN3B EXON Missense_Q907R exm1398496 19 1009251 [A/G] NM_138690 GRIN3B EXON Missense_V928M exm1398517 19 1009585 [C/G] NM_138690 GRIN3B EXON Missense_P1039R exm1398537 19 1010755 [A/G] NM_033420,NM_001033026 TMEM259,TMEM259 EXON Silent,Missense_S486L exm1398539 19 1010807 [T/G] NM_033420,NM_001033026 TMEM259,TMEM259 EXON Silent,Missense_P469T exm1398562 19 1011424 [G/C] NM_033420,NM_001033026 TMEM259,TMEM259 EXON Missense_A387P,Missense_A387P exm2253603 19 1011434 [T/G] NM_033420,NM_001033026 TMEM259,TMEM259 EXON Synonymous_I383I,Synonymous_I383I exm1398573 19 1011617 [T/G] NM_033420,NM_001033026 TMEM259,TMEM259 EXON Missense_P349H,Missense_P349H exm1398610 19 1013251 [A/G] NM_033420,NM_001033026 TMEM259,TMEM259 EXON Missense_T199M,Missense_T199M exm1398623 19 1014334 [T/C] NM_033420,NM_001033026 TMEM259,TMEM259 EXON Missense_A122T,Missense_A122T exm1398626 19 1014379 [T/G] NM_033420,NM_001033026 TMEM259,TMEM259 EXON Missense_R107S,Missense_R107S exm1398631 19 1014454 [T/C] NM_033420,NM_001033026 TMEM259,TMEM259 EXON Missense_V82I,Missense_V82I exm1398673 19 1036153 [A/G] NM_201277,NM_004368 CNN2,CNN2 EXON Silent,Missense_G139R exm1398752 19 1041843 [A/C] NM_019112 ABCA7 EXON Missense_N58K exm1398758 19 1041922 [A/C] NM_019112 ABCA7 EXON Missense_L85M exm1398771 19 1042755 [T/G] NM_019112 ABCA7 EXON Missense_G170V exm1398776 19 1042809 [A/G] NM_019112 ABCA7 EXON Missense_E188G exm1398797 19 1043395 [T/A] NM_019112 ABCA7 EXON Nonsense_R285X exm1398802 19 1043739 [A/G] NM_019112 ABCA7 EXON Missense_E316K exm1398804 19 1043748 [A/G] NM_019112 ABCA7 EXON Missense_T319A exm1398807 19 1043793 [T/C] NM_019112 ABCA7 EXON Missense_R334W exm1398808 19 1043794 [A/G] NM_019112 ABCA7 EXON Missense_R334Q exm1398810 19 1044589 [T/C] NM_019112 ABCA7 EXON Missense_M354T exm1398812 19 1044619 [G/C] NM_019112 ABCA7 EXON Missense_P364R exm1398819 19 1044712 [A/G] NM_019112 ABCA7 EXON Missense_H395R exm1398820 19 1044726 [G/C] NM_019112 ABCA7 EXON Missense_L400V exm1398825 19 1045026 [C/G] NM_019112 ABCA7 EXON Missense_A414G exm1398828 19 1045083 [A/G] NM_019112 ABCA7 EXON Missense_R433Q exm1398839 19 1045215 [A/G] NM_019112 ABCA7 EXON Missense_N477S exm1398840 19 1046239 [C/G] NM_019112 ABCA7 EXON Missense_P486A exm1398841 19 1046257 [A/C] NM_019112 ABCA7 EXON Missense_P492T exm1398848 19 1046404 [A/G] NM_019112 ABCA7 EXON Missense_V541M exm-rs3764650 19 1046520 [T/G] NM_019112 ABCA7 Silent exm-IND19-997906 19 1046907 [I/D] NM_019112 ABCA7 EXON exm1398860 19 1047016 [T/C] NM_019112 ABCA7 EXON Missense_V613A exm1398864 19 1047169 [T/C] NM_019112 ABCA7 EXON Missense_L620P exm1398873 19 1047336 [A/G] NM_019112 ABCA7 EXON Missense_A676T exm1398883 19 1047524 [A/G] NM_019112 ABCA7 EXON Missense_A714T exm1398884 19 1047537 [A/C] NM_019112 ABCA7 EXON Missense_N718T exm1398887 19 1048898 [G/C] NM_019112 ABCA7 EXON Missense_Q758H exm1398889 19 1048950 [A/G] NM_019112 ABCA7 EXON Missense_G776R exm1398911 19 1049360 [A/G] NM_019112 ABCA7 EXON Missense_G826R exm1398915 19 1049396 [A/G] NM_019112 ABCA7 EXON Missense_A838T exm1398925 19 1050996 [A/G] NM_019112 ABCA7 EXON Missense_A877T exm1398926 19 1050999 [A/G] NM_019112 ABCA7 EXON Missense_A878T exm1398927 19 1051006 [A/G] NM_019112 ABCA7 EXON Missense_R880Q exm1398937 19 1051209 [T/G] NM_019112 ABCA7 EXON Missense_A914S exm1398941 19 1051293 [C/G] NM_019112 ABCA7 EXON Missense_G942R exm1398945 19 1051502 [T/C] NM_019112 ABCA7 EXON Missense_V960A exm1398947 19 1051515 [C/G] NM_019112 ABCA7 EXON Missense_D964E exm1398954 19 1051944 [A/G] NM_019112 ABCA7 EXON Missense_R989H exm1398955 19 1051947 [T/C] NM_019112 ABCA7 EXON Missense_T990M exm1398964 19 1052058 [A/G] NM_019112 ABCA7 EXON Missense_R1027H exm1398972 19 1052244 [T/C] NM_019112 ABCA7 EXON Missense_T1060I exm1398981 19 1053382 [T/G] NM_019112 ABCA7 EXON Missense_V1092G exm1398986 19 1053438 [A/G] NM_019112 ABCA7 EXON Missense_G1111S exm1399002 19 1054061 [T/C] NM_019112 ABCA7 EXON Missense_R1177W exm1399003 19 1054062 [A/G] NM_019112 ABCA7 EXON Missense_R1177Q exm1399005 19 1054079 [T/C] NM_019112 ABCA7 EXON Nonsense_Q1183X exm2253610 19 1054196 [A/G] NM_019112 ABCA7 EXON Synonymous_G1194G exm1399012 19 1054255 [A/G] NM_019112 ABCA7 EXON Nonsense_W1214X exm1399016 19 1054324 [A/G] NM_019112 ABCA7 EXON Missense_R1237H exm1399017 19 1054326 [A/G] NM_019112 ABCA7 EXON Missense_G1238S exm1399020 19 1054572 [A/G] NM_019112 ABCA7 EXON Missense_V1244M exm1399035 19 1055191 [A/G] NM_019112 ABCA7 EXON Missense_R1349Q exm1399045 19 1055344 [A/G] NM_019112 ABCA7 EXON Missense_R1400H exm1399046 19 1055920 [A/G] NM_019112 ABCA7 EXON Missense_K1407R exm1399054 19 1056109 [T/C] NM_019112 ABCA7 EXON Missense_S1428L exm1399058 19 1056148 [T/C] NM_019112 ABCA7 EXON Missense_A1441V exm1399060 19 1056169 [A/G] NM_019112 ABCA7 EXON Missense_G1448D exm1399064 19 1056183 [T/C] NM_019112 ABCA7 EXON Missense_R1453C exm1399068 19 1056244 [T/G] NM_019112 ABCA7 Silent exm1399074 19 1056389 [A/G] NM_019112 ABCA7 EXON Missense_A1493T exm1399075 19 1056399 [A/G] NM_019112 ABCA7 EXON Missense_R1496H exm1399076 19 1056410 [T/C] NM_019112 ABCA7 EXON Missense_P1500S exm1399079 19 1056426 [A/G] NM_019112 ABCA7 EXON Missense_R1505H exm1399080 19 1056431 [A/G] NM_019112 ABCA7 EXON Missense_A1507T exm1399104 19 1057343 [A/G] NM_019112 ABCA7 EXON Missense_V1599M exm1399108 19 1057919 [T/C] NM_019112 ABCA7 EXON Missense_S1629L exm1399109 19 1057928 [T/C] NM_019112 ABCA7 EXON Missense_P1632L exm1399110 19 1057960 [A/G] NM_019112 ABCA7 EXON Missense_V1643M exm1399115 19 1058176 [A/G] NM_019112 ABCA7 EXON Missense_Q1686R exm1399119 19 1058263 [A/G] NM_019112 ABCA7 EXON Missense_R1715H exm1399121 19 1058635 [T/C] NM_019112 ABCA7 EXON Missense_S1723L exm1399123 19 1058644 [A/G] NM_019112 ABCA7 EXON Missense_R1726H exm1399126 19 1058685 [T/C] NM_019112 ABCA7 EXON Nonsense_Q1740X exm1399129 19 1058848 [A/G] NM_019112 ABCA7 EXON Missense_G1770E exm1399132 19 1058877 [T/C] NM_019112 ABCA7 EXON Missense_R1780W exm1399134 19 1058884 [A/G] NM_019112 ABCA7 EXON Missense_R1782Q exm1399140 19 1059056 [A/G] NM_019112 ABCA7 EXON Missense_R1812H exm1399141 19 1059079 [A/G] NM_019112 ABCA7 EXON Missense_G1820S exm2228202 19 1062286 [A/G] NM_019112 ABCA7 EXON Missense_G1896S exm1920121 19 1063585 [T/G] NM_019112 ABCA7 EXON Missense_A1919S exm1399166 19 1063624 [T/C] NM_019112 ABCA7 EXON Missense_R1932C exm2228204 19 1064171 [T/G] NM_019112 ABCA7 EXON Missense_C1988F exm2228205 19 1065097 [T/G] NM_019112 ABCA7 EXON Missense_F2071C exm1399192 19 1065305 [A/G] NM_019112 ABCA7 EXON Missense_E2108K exm1399199 19 1065412 [G/C] NM_019112 ABCA7 EXON Missense_E2143D exm1399206 19 1068428 [T/G] NM_001258328,NM_012292 HMHA1,HMHA1 EXON Missense_D52Y,Missense_D36Y exm1399226 19 1068738 [A/G] NM_001258328,NM_012292 HMHA1,HMHA1 EXON Missense_R155H,Missense_R139H exm1399235 19 1073204 [A/G] NM_001258328,NM_012292 HMHA1,HMHA1 EXON Missense_V176I,Missense_V160I exm2253618 19 1073266 [T/C] NM_001258328,NM_012292 HMHA1,HMHA1 EXON Synonymous_A196A,Synonymous_A180A exm1399239 19 1073565 [T/C] NM_001258328,NM_012292 HMHA1,HMHA1 EXON Missense_T225M,Missense_T209M exm1399246 19 1074000 [A/T] NM_001258328,NM_012292 HMHA1,HMHA1 EXON Missense_E275D,Missense_E259D exm1920285 19 1074009 [C/G] NM_001258328,NM_012292 HMHA1,HMHA1 EXON Missense_D278E,Missense_D262E exm1399247 19 1074010 [A/G] NM_001258328,NM_012292 HMHA1,HMHA1 EXON Missense_A279T,Missense_A263T exm1399274 19 1077947 [T/C] NM_001258328,NM_012292,NR_047652 HMHA1,HMHA1,HMHA1 EXON Missense_A442V,Missense_A426V,Silent exm1399286 19 1079829 [T/C] NM_001258328,NM_012292,NR_047652 HMHA1,HMHA1,HMHA1 EXON Missense_T517I,Missense_T501I,Silent exm1399288 19 1079959 [A/G] NM_001258328,NM_012292,NR_047652 HMHA1,HMHA1,HMHA1 EXON Missense_M531I,Missense_M515I,Silent exm1399298 19 1080377 [A/G] NM_001258328,NM_012292,NR_047652 HMHA1,HMHA1,HMHA1 EXON Synonymous_R625R,Synonymous_R609R,Silent exm1399304 19 1080681 [A/G] NM_001258328,NM_012292,NR_047652 HMHA1,HMHA1,HMHA1 EXON Missense_G654E,Missense_G638E,Silent exm1399307 19 1080739 [C/G] NM_001258328,NM_012292,NR_047652 HMHA1,HMHA1,HMHA1 EXON Missense_E673D,Missense_E657D,Silent exm2253619 19 1082880 [T/C] NM_001258328,NM_012292,NR_047652 HMHA1,HMHA1,HMHA1 EXON Synonymous_L869L,Synonymous_L853L,Silent exm1399353 19 1083330 [T/C] NM_001258328,NM_012292,NR_047652 HMHA1,HMHA1,HMHA1 EXON Missense_P994L,Missense_P978L,Silent exm2228220 19 1085665 [A/G] NM_001258328,NM_012292,NR_047652 HMHA1,HMHA1,HMHA1 EXON Missense_R1040Q,Missense_R1024Q,Silent exm1399373 19 1085736 [A/G] NM_001258328,NM_012292,NR_047652 HMHA1,HMHA1,HMHA1 EXON Missense_A1064T,Missense_A1048T,Silent exm1399374 19 1085752 [A/G] NM_001258328,NM_012292,NR_047652 HMHA1,HMHA1,HMHA1 EXON Missense_S1069N,Missense_S1053N,Silent exm1399378 19 1085811 [A/G] NM_001258328,NM_012292,NR_047652 HMHA1,HMHA1,HMHA1 EXON Missense_G1089S,Missense_G1073S,Silent exm1920490 19 1085857 [A/G] NM_001258328,NM_012292,NR_047652 HMHA1,HMHA1,HMHA1 EXON Missense_G1104E,Missense_G1088E,Silent exm1399386 19 1085863 [A/G] NM_001258328,NM_012292,NR_047652 HMHA1,HMHA1,HMHA1 EXON Missense_E1106G,Missense_E1090G,Silent exm1399388 19 1085868 [A/G] NM_001258328,NM_012292,NR_047652 HMHA1,HMHA1,HMHA1 EXON Missense_G1108S,Missense_G1092S,Silent exm1399398 19 1085950 [A/G] NM_001258328,NM_012292,NR_047652 HMHA1,HMHA1,HMHA1 EXON Missense_R1135H,Missense_R1119H,Silent exm1399421 19 1089957 [C/G] NM_002695 POLR2E EXON Missense_L165V exm1399441 19 1091811 [T/C] NM_002695 POLR2E EXON Missense_M110V exm1399444 19 1091838 [A/G] NM_002695 POLR2E EXON Missense_R101W exm1399445 19 1091840 [A/G] NM_002695 POLR2E EXON Missense_T100I exm1399450 19 1091904 [A/C] NM_002695 POLR2E EXON Nonsense_E79X exm1399456 19 1093989 [T/C] NM_002695 POLR2E EXON Missense_S49N exm1399457 19 1094004 [A/G] NM_002695 POLR2E EXON Missense_S44F exm1399462 19 1095271 [T/C] NM_002695 POLR2E EXON Missense_K15R exm1399489 19 1105258 [T/C] NM_002085,NM_001039847,NM_001039848 GPX4,GPX4,GPX4 EXON Missense_M53T,Missense_M53T,Missense_M90T exm1399494 19 1105385 [C/G] NM_002085,NM_001039847,NM_001039848 GPX4,GPX4,GPX4 EXON Missense_T67S,Missense_T67S,Missense_T104S exm2228225 19 1105668 [T/A] NM_002085,NM_001039847,NM_001039848 GPX4,GPX4,GPX4 EXON Missense_S112R,Missense_S112R,Missense_S149R exm1399509 19 1105690 [A/G] NM_002085,NM_001039847,NM_001039848 GPX4,GPX4,GPX4 EXON Missense_A120T,Missense_A120T,Missense_A157T exm1399512 19 1105723 [A/G] NM_002085,NM_001039847,NM_001039848 GPX4,GPX4,GPX4 EXON Missense_S131G,Missense_S131G,Missense_S168G exm1399523 19 1106423 [A/G] NM_002085,NM_001039847,NM_001039848 GPX4,GPX4,GPX4 EXON Missense_V176M,Missense_R183H,Missense_V213M exm1399524 19 1106438 [A/G] NM_002085,NM_001039847,NM_001039848 GPX4,GPX4,GPX4 EXON Missense_G181R,Missense_R188Q,Missense_G218R exm1399551 19 1108401 [T/C] NM_001100122,NM_014963 SBNO2,SBNO2 EXON Missense_G1250S,Missense_G1307S exm1399593 19 1109322 [A/G] NM_001100122,NM_014963 SBNO2,SBNO2 EXON Missense_A1049V,Missense_A1106V exm1399649 19 1113610 [T/C] NM_001100122,NM_014963 SBNO2,SBNO2 EXON Missense_R667Q,Missense_R724Q exm1399654 19 1113701 [A/G] NM_001100122,NM_014963 SBNO2,SBNO2 EXON Missense_P637S,Missense_P694S exm1399665 19 1114370 [A/G] NM_001100122,NM_014963 SBNO2,SBNO2 EXON Missense_A589V,Missense_A646V exm2253621 19 1116060 [A/G] NM_001100122,NM_014963 SBNO2,SBNO2 EXON Synonymous_T558T,Synonymous_T615T exm1399694 19 1119039 [T/C] NM_001100122,NM_014963 SBNO2,SBNO2 EXON Missense_E443K,Missense_E500K exm1399708 19 1119539 [A/T] NM_001100122,NM_014963 SBNO2,SBNO2 EXON Missense_E393V,Missense_E450V exm1399709 19 1119540 [A/C] NM_001100122,NM_014963 SBNO2,SBNO2 EXON Nonsense_E393X,Nonsense_E450X exm1399734 19 1122510 [T/C] NM_001100122,NM_014963 SBNO2,SBNO2 EXON Missense_R264Q,Missense_R321Q exm-rs740495 19 1124835 [A/G] NM_001100122,NM_014963 SBNO2,SBNO2 Silent,Silent exm1399779 19 1127620 [A/G] NM_001100122,NM_014963 SBNO2,SBNO2 EXON Missense_P85S,Missense_P142S exm2253622 19 1127678 [A/G] NM_001100122,NM_014963 SBNO2,SBNO2 EXON Synonymous_D65D,Synonymous_D122D exm1921881 19 1221319 [T/C] NM_000455 STK11 EXON Missense_P281L exm1399861 19 1221979 [A/C] NM_000455 STK11 EXON Missense_F298L exm1399876 19 1223125 [C/G] NM_000455 STK11 EXON Missense_F354L exm1399885 19 1226555 [T/C] NM_000455 STK11 EXON Missense_S404F exm1399929 19 1231179 [A/G] NM_152769 C19orf26 EXON Missense_Y359H exm1399940 19 1233517 [T/C] NM_152769 C19orf26 EXON Missense_R296H exm1399943 19 1233545 [T/C] NM_152769 C19orf26 EXON Missense_V287I exm1399944 19 1233553 [T/G] NM_152769 C19orf26 EXON Missense_A284E exm1399951 19 1234191 [A/G] NM_152769 C19orf26 EXON Missense_S256L exm1399954 19 1234210 [T/C] NM_152769 C19orf26 EXON Missense_D250N exm1399957 19 1234249 [T/C] NM_152769 C19orf26 EXON Missense_A237T exm1399958 19 1234255 [T/C] NM_152769 C19orf26 EXON Missense_A235T exm1399964 19 1234617 [T/G] NM_152769 C19orf26 EXON Missense_T194P exm1399981 19 1235132 [T/C] NM_152769 C19orf26 EXON Missense_R108Q exm1921972 19 1235518 [G/C] NM_152769 C19orf26 EXON Missense_G98R exm1399994 19 1235878 [A/C] NM_152769 C19orf26 EXON Missense_V49L exm1400007 19 1236062 [A/G] NM_152769 C19orf26 EXON Missense_T13I exm1400030 19 1244146 [A/G] NM_001687,NM_001001975 ATP5D,ATP5D EXON Missense_A116T,Missense_A116T exm1922033 19 1244170 [A/G] NM_001687,NM_001001975 ATP5D,ATP5D EXON Missense_M124V,Missense_M124V exm1400038 19 1244381 [T/C] NM_001687,NM_001001975 ATP5D,ATP5D EXON Missense_A151V,Missense_A151V exm1400055 19 1251598 [T/G] NM_177401 MIDN EXON Missense_G91C exm1400085 19 1254947 [T/C] NM_177401 MIDN EXON Missense_A248V exm1400106 19 1255631 [T/C] NM_177401 MIDN EXON Missense_T356M exm2228333 19 1255692 [A/G] NM_177401 MIDN EXON Synonymous_P376P exm1400114 19 1257027 [T/C] NM_177401 MIDN EXON Missense_T388M exm2253636 19 1271462 [T/C] NM_001280,NR_023312,NR_023313 CIRBP,CIRBP,CIRBP EXON Synonymous_S115S,Silent,Silent exm1400190 19 1272049 [T/C] NM_001280,NR_023312,NR_023313 CIRBP,CIRBP,CIRBP EXON Synonymous_Y167Y,Silent,Silent exm1400252 19 1295697 [G/C] NM_001405 EFNA2 EXON Synonymous_G98G exm1400257 19 1298577 [A/G] NM_001405 EFNA2 EXON Missense_R161Q exm2268212 19 1310821 [A/G] exm1400275 19 1357048 [T/G] NM_032853,NR_024247 MUM1,MUM1 EXON Missense_R34I,Silent exm1400282 19 1360136 [G/C] NM_032853,NR_024247 MUM1,MUM1 EXON Synonymous_A73A,Silent exm1400283 19 1360149 [A/G] NM_032853,NR_024247 MUM1,MUM1 EXON Missense_V78I,Silent exm1400287 19 1360194 [T/C] NM_032853,NR_024247 MUM1,MUM1 EXON Missense_R93C,Silent exm1923183 19 1360261 [A/G] NM_032853,NR_024247 MUM1,MUM1 EXON Missense_R115K,Silent exm1400290 19 1360270 [A/G] NM_032853,NR_024247 MUM1,MUM1 EXON Missense_R118Q,Silent exm1400292 19 1360278 [T/C] NM_032853,NR_024247 MUM1,MUM1 EXON Nonsense_R121X,Silent exm1400302 19 1360408 [T/C] NM_032853,NR_024247 MUM1,MUM1 EXON Missense_S164L,Silent exm1400304 19 1360491 [T/G] NM_032853,NR_024247 MUM1,MUM1 EXON Missense_V192F,Silent exm1400312 19 1360575 [A/G] NM_032853,NR_024247 MUM1,MUM1 EXON Missense_G220R,Silent exm1400317 19 1360644 [G/C] NM_032853,NR_024247 MUM1,MUM1 EXON Missense_D243H,Silent exm1400318 19 1360671 [A/G] NM_032853,NR_024247 MUM1,MUM1 EXON Missense_A252T,Silent exm1923188 19 1360692 [A/G] NM_032853,NR_024247 MUM1,MUM1 EXON Missense_G259R,Silent exm1400332 19 1360981 [T/C] NM_032853,NR_024247 MUM1,MUM1 EXON Missense_A355V,Silent exm2228387 19 1360996 [A/G] NM_032853,NR_024247 MUM1,MUM1 EXON Missense_C360Y,Silent exm1923209 19 1367212 [T/C] NM_032853,NR_024247 MUM1,MUM1 EXON Missense_T473M,Silent exm1400356 19 1369286 [A/G] NM_032853,NR_024247 MUM1,MUM1 EXON Missense_N483S,Silent exm1400358 19 1369303 [T/G] NM_032853,NR_024247 MUM1,MUM1 EXON Missense_C489G,Silent exm1400383 19 1370925 [A/G] NM_032853,NR_024247 MUM1,MUM1 EXON Missense_V613M,Silent exm1400386 19 1371028 [A/G] NM_032853,NR_024247 MUM1,MUM1 EXON Missense_R647H,Silent exm1400412 19 1388538 [T/C] NM_024407 NDUFS7 EXON Missense_P23L exm1400418 19 1388855 [G/C] NM_024407 NDUFS7 EXON Missense_A49G exm1400442 19 1393296 [A/G] NM_024407 NDUFS7 EXON Missense_D171N exm1400466 19 1397443 [A/G] NM_000156 GAMT EXON Missense_T209M exm1400471 19 1397488 [A/G] NM_000156 GAMT EXON Missense_V194A exm1400477 19 1398782 [T/C] NM_000156,NM_138924 GAMT,GAMT EXON Silent,Missense_V235I exm1400480 19 1398911 [A/G] NM_000156,NM_138924 GAMT,GAMT EXON Silent,Missense_R192C exm1400500 19 1399792 [T/C] NM_000156,NM_138924 GAMT,GAMT EXON Synonymous_K109K,Synonymous_K109K exm1400511 19 1399892 [A/G] NM_000156,NM_138924 GAMT,GAMT EXON Missense_S76L,Missense_S76L exm1923418 19 1399937 [T/C] NM_000156,NM_138924 GAMT,GAMT EXON Missense_G61E,Missense_G61E exm1400516 19 1401345 [A/C] NM_000156,NM_138924 GAMT,GAMT EXON Missense_R44L,Missense_R44L exm1400518 19 1401397 [A/G] NM_000156,NM_138924 GAMT,GAMT EXON Missense_Y27H,Missense_Y27H exm1400607 19 1440230 [C/G] NM_001018 RPS15 EXON Missense_T101S exm1924013 19 1453017 [T/C] NM_005883 APC2 EXON Missense_A6V exm1400653 19 1457002 [C/G] NM_005883 APC2 EXON Missense_G323R exm1400666 19 1457982 [T/C] NM_005883 APC2 EXON Missense_P409L exm1924092 19 1458042 [A/G] NM_005883 APC2 EXON Missense_R429H exm2253654 19 1460193 [T/C] NM_005883 APC2 EXON Synonymous_A439A exm1400685 19 1460795 [A/G] NM_005883 APC2 EXON Missense_R487H exm1400711 19 1462052 [A/G] NM_005883 APC2 EXON Missense_A577T exm1400746 19 1466061 [A/G] NM_005883 APC2 EXON Missense_S921G exm1400749 19 1466145 [A/G] NM_005883 APC2 EXON Missense_A949T exm1400764 19 1466347 [T/C] NM_005883 APC2 EXON Missense_L1016P exm1400834 19 1468408 [A/C] NM_005883 APC2 EXON Missense_A1703E exm1400839 19 1468467 [C/G] NM_005883 APC2 EXON Missense_G1723R exm1400852 19 1468696 [T/C] NM_005883 APC2 EXON Missense_P1799L exm1400889 19 1469991 [A/G] NM_005883 APC2 EXON Missense_D2231N exm1400904 19 1475053 [A/G] NM_152482 C19orf25 EXON Missense_A112V exm1400925 19 1478860 [A/G] NM_152482 C19orf25 EXON Missense_P15S exm1400930 19 1481787 [G/C] NM_017573 PCSK4 EXON Missense_P747A exm1400951 19 1482105 [T/C] NM_017573 PCSK4 EXON Missense_T641A exm1400957 19 1482396 [A/G] NM_017573 PCSK4 EXON Missense_T592I exm1400958 19 1482414 [A/G] NM_017573 PCSK4 EXON Missense_P586L exm1400967 19 1482476 [T/G] NM_017573 PCSK4 Silent exm1400969 19 1482902 [T/G] NM_017573 PCSK4 EXON Missense_F563L exm1400974 19 1483326 [C/G] NM_017573 PCSK4 EXON Missense_L510V exm1400981 19 1483428 [A/C] NM_017573 PCSK4 EXON Missense_V476L exm1401004 19 1484105 [G/C] NM_017573 PCSK4 EXON Missense_G364R exm1401008 19 1486875 [T/C] NM_017573 PCSK4 EXON Missense_G349S exm1924426 19 1486915 [A/G] NM_017573 PCSK4 EXON Synonymous_S335S exm1401028 19 1487045 [A/G] NM_017573 PCSK4 EXON Missense_T292M exm1401032 19 1487157 [A/G] NM_017573 PCSK4 EXON Missense_R280W exm1401036 19 1487195 [A/G] NM_017573 PCSK4 EXON Missense_T267M exm1401037 19 1487198 [T/C] NM_017573 PCSK4 EXON Missense_R266H exm1401040 19 1487211 [T/C] NM_017573 PCSK4 EXON Missense_E262K exm1924440 19 1487249 [A/G] NM_017573 PCSK4 EXON Missense_P249L exm1401046 19 1487303 [T/A] NM_017573 PCSK4 EXON Missense_M231K exm1401053 19 1487614 [T/C] NM_017573 PCSK4 EXON Missense_A224T exm1401065 19 1487962 [T/C] NM_017573 PCSK4 Silent exm1401074 19 1488058 [A/G] NM_017573 PCSK4 EXON Nonsense_Q141X exm2253656 19 1488077 [T/C] NM_017573 PCSK4 EXON Synonymous_Q134Q exm1401076 19 1488085 [T/C] NM_017573 PCSK4 EXON Missense_E132K exm1924480 19 1488187 [G/C] NM_017573 PCSK4 EXON Missense_M129I exm1401082 19 1488218 [A/G] NM_017573 PCSK4 EXON Missense_T119M exm1401083 19 1488228 [T/C] NM_017573 PCSK4 EXON Missense_V116M exm1401085 19 1488242 [A/C] NM_017573 PCSK4 EXON Missense_V111G exm1401087 19 1488257 [A/G] NM_017573 PCSK4 EXON Missense_T106M exm1401090 19 1489817 [T/C] NM_017573 PCSK4 EXON Missense_R90H exm1401096 19 1489895 [A/G] NM_017573 PCSK4 EXON Missense_I64T exm1401117 19 1495298 [A/G] NM_138393 REEP6 EXON Missense_V41I exm1401121 19 1495387 [A/G] NM_138393 REEP6 Silent exm1401126 19 1495526 [G/C] NM_138393 REEP6 EXON Missense_V90L exm1401135 19 1496348 [A/G] NM_138393 REEP6 EXON Missense_R138H exm1401141 19 1496380 [A/G] NM_138393 REEP6 EXON Missense_G149R exm1401142 19 1496384 [A/C] NM_138393 REEP6 EXON Missense_A150D exm1401144 19 1496404 [A/G] NM_138393 REEP6 EXON Missense_D157N exm1401177 19 1506135 [T/C] NM_213604 ADAMTSL5 EXON Missense_R432H exm1401183 19 1506219 [T/C] NM_213604 ADAMTSL5 EXON Missense_R404Q exm1401184 19 1506220 [A/G] NM_213604 ADAMTSL5 EXON Missense_R404W exm1401185 19 1506228 [A/G] NM_213604 ADAMTSL5 EXON Missense_S401L exm1401190 19 1506268 [A/G] NM_213604 ADAMTSL5 EXON Missense_R388C exm1924595 19 1506619 [A/G] NM_213604 ADAMTSL5 EXON Nonsense_R362X exm1401208 19 1507270 [T/C] NM_213604 ADAMTSL5 EXON Missense_G275R exm1401223 19 1507402 [T/G] NM_213604 ADAMTSL5 EXON Missense_L231M exm1401225 19 1507557 [T/C] NM_213604 ADAMTSL5 EXON Synonymous_L229L exm1401228 19 1507585 [A/C] NM_213604 ADAMTSL5 EXON Missense_R220L exm1401248 19 1510199 [T/C] NM_213604 ADAMTSL5 EXON Missense_R104H exm1401250 19 1510368 [A/G] NM_213604 ADAMTSL5 EXON Missense_P84L exm2228473 19 1512963 [A/G] NM_213604 ADAMTSL5 EXON Silent exm1401343 19 1578390 [G/C] NM_003926 MBD3 EXON Missense_E275D exm1401344 19 1578392 [T/C] NM_003926 MBD3 EXON Missense_E275K exm1401416 19 1605401 [G/C] NM_006830 UQCR11 EXON Missense_T3S exm1401422 19 1611720 [T/C] NM_001136139,NM_003200 TCF3,TCF3 EXON Missense_A648T,Missense_A651T exm1925459 19 1612307 [T/C] NM_001136139,NM_003200 TCF3,TCF3 EXON Missense_R571H,Silent exm1925461 19 1612427 [A/G] NM_001136139,NM_003200 TCF3,TCF3 EXON Missense_T531M,Silent exm1401454 19 1615698 [A/G] NM_001136139,NM_003200 TCF3,TCF3 EXON Missense_R525W,Missense_R525W exm1401455 19 1615707 [T/G] NM_001136139,NM_003200 TCF3,TCF3 EXON Missense_K522Q,Missense_K522Q exm1401464 19 1615767 [T/C] NM_001136139,NM_003200 TCF3,TCF3 EXON Missense_K502E,Missense_K502E exm1925476 19 1615775 [A/C] NM_001136139,NM_003200 TCF3,TCF3 EXON Missense_R499L,Missense_R499L exm1401465 19 1615776 [A/G] NM_001136139,NM_003200 TCF3,TCF3 EXON Missense_R499W,Missense_R499W exm2253678 19 1615786 [A/G] NM_001136139,NM_003200 TCF3,TCF3 EXON Synonymous_S495S,Synonymous_S495S exm1401475 19 1619130 [T/C] NM_001136139,NM_003200 TCF3,TCF3 EXON Missense_R477Q,Missense_R477Q exm1401483 19 1619209 [T/C] NM_001136139,NM_003200 TCF3,TCF3 EXON Missense_G451S,Missense_G451S exm1401490 19 1619350 [T/C] NM_001136139,NM_003200 TCF3,TCF3 EXON Missense_G431S,Missense_G431S exm1401494 19 1619401 [T/C] NM_001136139,NM_003200 TCF3,TCF3 EXON Missense_D414N,Missense_D414N exm1401496 19 1619427 [T/C] NM_001136139,NM_003200 TCF3,TCF3 EXON Missense_R405H,Missense_R405H exm1401510 19 1620975 [T/C] NM_001136139,NM_003200 TCF3,TCF3 EXON Missense_G362D,Missense_G362D exm1401530 19 1621894 [T/C] NM_001136139,NM_003200 TCF3,TCF3 EXON Missense_T300A,Missense_T300A exm1401533 19 1621914 [A/G] NM_001136139,NM_003200 TCF3,TCF3 EXON Missense_F293S,Missense_F293S exm1401553 19 1622372 [T/C] NM_001136139,NM_003200 TCF3,TCF3 EXON Missense_T198A,Missense_T198A exm1401584 19 1627405 [T/C] NM_001136139,NM_003200 TCF3,TCF3 EXON Missense_A107T,Missense_A107T exm1401587 19 1627422 [T/C] NM_001136139,NM_003200 TCF3,TCF3 EXON Missense_K101R,Missense_K101R exm1401615 19 1650226 [A/C] NM_001136139,NM_003200 TCF3,TCF3 EXON Missense_A8S,Missense_A8S exm2268170 19 1709658 [A/G] exm1401643 19 1775293 [T/C] NM_001080488 ONECUT3 EXON Missense_V445A exm1401654 19 1783027 [T/C] NM_138813,NR_047593,NM_001178002 ATP8B3,ATP8B3,ATP8B3 EXON Missense_X1301W,Silent,Missense_X1264W exm1401659 19 1783146 [T/G] NM_138813,NR_047593,NM_001178002 ATP8B3,ATP8B3,ATP8B3 EXON Missense_N1262H,Silent,Missense_N1225H exm1401660 19 1783160 [T/C] NM_138813,NR_047593,NM_001178002 ATP8B3,ATP8B3,ATP8B3 EXON Missense_R1257H,Silent,Missense_R1220H exm1401664 19 1783187 [T/C] NM_138813,NR_047593,NM_001178002 ATP8B3,ATP8B3,ATP8B3 EXON Missense_R1248H,Silent,Missense_R1211H exm1401665 19 1783193 [T/C] NM_138813,NR_047593,NM_001178002 ATP8B3,ATP8B3,ATP8B3 EXON Missense_R1246H,Silent,Missense_R1209H exm1401666 19 1783214 [A/G] NM_138813,NR_047593,NM_001178002 ATP8B3,ATP8B3,ATP8B3 EXON Missense_P1239L,Silent,Missense_P1202L exm1401671 19 1783250 [T/C] NM_138813,NR_047593,NM_001178002 ATP8B3,ATP8B3,ATP8B3 EXON Missense_G1227D,Silent,Missense_G1190D exm1401678 19 1784944 [A/G] NM_138813,NR_047593,NM_001178002 ATP8B3,ATP8B3,ATP8B3 EXON Synonymous_Y1178Y,Silent,Synonymous_Y1141Y exm1401683 19 1785185 [T/C] NM_138813,NR_047593,NM_001178002 ATP8B3,ATP8B3,ATP8B3 EXON Missense_V1169I,Silent,Missense_V1132I exm1401694 19 1785547 [A/G] NM_138813,NR_047593,NM_001178002 ATP8B3,ATP8B3,ATP8B3 EXON Missense_A1105V,Silent,Missense_A1068V exm1401696 19 1785550 [A/G] NM_138813,NR_047593,NM_001178002 ATP8B3,ATP8B3,ATP8B3 EXON Missense_T1104M,Silent,Missense_T1067M exm1401697 19 1785575 [T/G] NM_138813,NR_047593,NM_001178002 ATP8B3,ATP8B3,ATP8B3 EXON Missense_M1096L,Silent,Missense_M1059L exm1401698 19 1785587 [T/C] NM_138813,NR_047593,NM_001178002 ATP8B3,ATP8B3,ATP8B3 EXON Missense_V1092I,Silent,Missense_V1055I exm1401700 19 1785590 [G/C] NM_138813,NR_047593,NM_001178002 ATP8B3,ATP8B3,ATP8B3 EXON Missense_L1091V,Silent,Missense_L1054V exm1401701 19 1785611 [T/C] NM_138813,NR_047593,NM_001178002 ATP8B3,ATP8B3,ATP8B3 EXON Missense_A1084T,Silent,Missense_A1047T exm1926903 19 1785612 [A/G] NM_138813,NR_047593,NM_001178002 ATP8B3,ATP8B3,ATP8B3 EXON Synonymous_I1083I,Silent,Synonymous_I1046I exm1401702 19 1785614 [T/C] NM_138813,NR_047593,NM_001178002 ATP8B3,ATP8B3,ATP8B3 EXON Missense_I1083V,Silent,Missense_I1046V exm1401703 19 1785623 [T/C] NM_138813,NR_047593,NM_001178002 ATP8B3,ATP8B3,ATP8B3 EXON Missense_V1080I,Silent,Missense_V1043I exm1401710 19 1787157 [A/T] NM_138813,NR_047593,NM_001178002 ATP8B3,ATP8B3,ATP8B3 EXON Missense_L1033H,Silent,Missense_L996H exm1401713 19 1788909 [T/C] NM_138813,NR_047593,NM_001178002 ATP8B3,ATP8B3,ATP8B3 EXON Missense_G1019D,Silent,Missense_G982D exm1401715 19 1788940 [T/G] NM_138813,NR_047593,NM_001178002 ATP8B3,ATP8B3,ATP8B3 EXON Missense_M1009L,Silent,Missense_M972L exm1401716 19 1788975 [A/G] NM_138813,NR_047593,NM_001178002 ATP8B3,ATP8B3,ATP8B3 EXON Missense_L997P,Silent,Missense_L960P exm1401717 19 1788995 [G/C] NM_138813,NR_047593,NM_001178002 ATP8B3,ATP8B3,ATP8B3 EXON Nonsense_Y990X,Silent,Nonsense_Y953X exm1401728 19 1789443 [A/G] NM_138813,NR_047593,NM_001178002 ATP8B3,ATP8B3,ATP8B3 EXON Missense_L921P,Silent,Missense_L884P exm1401735 19 1789516 [A/G] NM_138813,NR_047593,NM_001178002 ATP8B3,ATP8B3,ATP8B3 EXON Missense_R897C,Silent,Missense_R860C exm1401748 19 1789960 [T/C] NM_138813,NR_047593,NM_001178002 ATP8B3,ATP8B3,ATP8B3 EXON Missense_S803G,Silent,Missense_S766G exm1926993 19 1790763 [T/C] NM_138813,NR_047593,NM_001178002 ATP8B3,ATP8B3,ATP8B3 EXON Missense_E791K,Silent,Missense_E754K exm1401750 19 1790814 [T/C] NM_138813,NR_047593,NM_001178002 ATP8B3,ATP8B3,ATP8B3 EXON Missense_G774S,Silent,Missense_G737S exm1401757 19 1792019 [T/C] NM_138813,NR_047593,NM_001178002 ATP8B3,ATP8B3,ATP8B3 EXON Missense_R724Q,Silent,Missense_R677Q exm1401767 19 1795924 [A/G] NM_138813,NR_047593,NM_001178002 ATP8B3,ATP8B3,ATP8B3 EXON Missense_R669C,Silent,Missense_R622C exm1401776 19 1795984 [A/G] NM_138813,NR_047593,NM_001178002 ATP8B3,ATP8B3,ATP8B3 EXON Nonsense_R649X,Silent,Nonsense_R602X exm1401781 19 1796099 [A/G] NM_138813,NR_047593,NM_001178002 ATP8B3,ATP8B3,ATP8B3 EXON Missense_T640M,Silent,Missense_T593M exm1401784 19 1796166 [T/C] NM_138813,NR_047593,NM_001178002 ATP8B3,ATP8B3,ATP8B3 EXON Missense_V618I,Silent,Missense_V571I exm1401798 19 1796782 [C/G] NM_138813,NR_047593,NM_001178002 ATP8B3,ATP8B3,ATP8B3 EXON Missense_V561L,Silent,Missense_V514L exm1401801 19 1796803 [A/G] NM_138813,NR_047593,NM_001178002 ATP8B3,ATP8B3,ATP8B3 EXON Missense_R554W,Silent,Missense_R507W exm1401806 19 1796869 [A/C] NM_138813,NR_047593,NM_001178002 ATP8B3,ATP8B3,ATP8B3 EXON Missense_Y532D,Silent,Missense_Y485D exm1401807 19 1796880 [T/C] NM_138813,NR_047593,NM_001178002 ATP8B3,ATP8B3,ATP8B3 Silent,Silent,Silent exm1927159 19 1800152 [A/G] NM_138813,NR_047593,NM_001178002 ATP8B3,ATP8B3,ATP8B3 EXON Missense_S449F,Silent,Missense_S402F exm1401829 19 1800331 [T/C] NM_138813,NR_047593,NM_001178002 ATP8B3,ATP8B3,ATP8B3 EXON Missense_A424T,Silent,Missense_A377T exm1401834 19 1800406 [T/C] NM_138813,NR_047593,NM_001178002 ATP8B3,ATP8B3,ATP8B3 EXON Missense_G399S,Silent,Missense_G352S exm1401836 19 1802044 [T/C] NM_138813,NR_047593,NM_001178002 ATP8B3,ATP8B3,ATP8B3 EXON Silent,Silent,Missense_G308S exm1401841 19 1802591 [C/G] NM_138813,NR_047593,NM_001178002 ATP8B3,ATP8B3,ATP8B3 EXON Missense_L320V,Silent,Missense_L267V exm1401856 19 1806137 [T/C] NM_138813,NR_047593,NM_001178002 ATP8B3,ATP8B3,ATP8B3 EXON Missense_V237M,Silent,Missense_V184M exm2228611 19 1806160 [T/G] NM_138813,NR_047593,NM_001178002 ATP8B3,ATP8B3,ATP8B3 EXON Missense_Q229P,Silent,Missense_Q176P exm1401859 19 1806667 [T/C] NM_138813,NR_047593,NM_001178002 ATP8B3,ATP8B3,ATP8B3 EXON Missense_A213T,Silent,Missense_A160T exm1401878 19 1811603 [T/C] NM_138813,NR_047593,NM_001178002 ATP8B3,ATP8B3,ATP8B3 EXON Missense_G45R,Silent,Silent exm1401887 19 1816124 [T/C] NM_020695 REXO1 EXON Missense_G1203S exm1401901 19 1816490 [A/C] NM_020695 REXO1 EXON Missense_M1132I exm1401916 19 1816706 [T/C] NM_020695 REXO1 EXON Missense_Y1103C exm1401929 19 1816799 [T/C] NM_020695 REXO1 EXON Missense_Y1072C exm1401935 19 1817259 [T/C] NM_020695 REXO1 EXON Missense_G1054R exm1927331 19 1818484 [A/G] NM_020695 REXO1 EXON Missense_R1005W exm1401948 19 1818489 [T/C] NM_020695 REXO1 EXON Missense_R1003Q exm1401966 19 1819034 [T/C] NM_020695 REXO1 EXON Missense_R916Q exm1401970 19 1819074 [T/C] NM_020695 REXO1 EXON Missense_A903T exm1401973 19 1819101 [T/C] NM_020695 REXO1 EXON Missense_E894K exm1927362 19 1819112 [A/G] NM_020695 REXO1 EXON Missense_V890A exm1401976 19 1819125 [T/C] NM_020695 REXO1 EXON Missense_S886G exm1401990 19 1820343 [T/C] NM_020695 REXO1 EXON Missense_V816I exm1401998 19 1821637 [A/G] NM_020695 REXO1 EXON Missense_S759P exm1402013 19 1823760 [T/C] NM_020695,NR_034114 REXO1,LOC100288123 EXON Missense_A681T,Silent exm1402022 19 1825905 [A/G] NM_020695 REXO1 EXON Missense_S650L exm1402057 19 1827304 [T/C] NM_020695 REXO1 EXON Missense_R495Q exm1402071 19 1827503 [A/G] NM_020695 REXO1 EXON Missense_R429W exm1402073 19 1827518 [A/G] NM_020695 REXO1 EXON Missense_R424W exm1402097 19 1827826 [A/G] NM_020695 REXO1 EXON Missense_P321L exm1402103 19 1827904 [A/G] NM_020695 REXO1 EXON Missense_T295M exm1402118 19 1828111 [G/C] NM_020695 REXO1 EXON Missense_S226C exm1402120 19 1828148 [A/G] NM_020695 REXO1 EXON Missense_R214C exm2228626 19 1828292 [T/G] NM_020695 REXO1 EXON Missense_Q166K exm1402134 19 1828319 [T/C] NM_020695 REXO1 EXON Missense_G157S exm1402214 19 1880904 [A/C] NM_001130111,NM_031213 FAM108A1,FAM108A1 EXON Silent,Missense_L159R exm1402217 19 1880950 [T/C] NM_001130111,NM_031213 FAM108A1,FAM108A1 EXON Silent,Missense_K144E exm1402220 19 1880989 [T/C] NM_001130111,NM_031213 FAM108A1,FAM108A1 EXON Silent,Missense_D131N exm1402227 19 1881271 [T/C] NM_001130111,NM_031213 FAM108A1,FAM108A1 EXON Missense_V99I,Missense_V99I exm1402229 19 1881273 [T/C] NM_001130111,NM_031213 FAM108A1,FAM108A1 EXON Missense_R98H,Missense_R98H exm1402249 19 1912165 [T/C] NM_138422,NM_079834 ADAT3,SCAMP4 EXON Missense_A40V,Silent exm1402252 19 1912227 [T/G] NM_138422,NM_079834 ADAT3,SCAMP4 EXON Missense_A61S,Silent exm1402255 19 1912251 [A/G] NM_138422,NM_079834 ADAT3,SCAMP4 EXON Missense_K69E,Silent exm1402268 19 1912594 [T/C] NM_138422,NM_079834 ADAT3,SCAMP4 EXON Missense_T183M,Silent exm1402272 19 1912731 [A/G] NM_138422,NM_079834 ADAT3,SCAMP4 EXON Missense_D229N,Silent exm1402281 19 1912900 [A/C] NM_138422,NM_079834 ADAT3,SCAMP4 EXON Missense_D285A,Silent exm1402287 19 1912976 [A/C] NM_138422,NM_079834 ADAT3,SCAMP4 EXON Nonsense_C310X,Silent exm1402318 19 1918216 [T/C] NM_079834 SCAMP4 EXON Missense_V76A exm1402320 19 1918234 [T/C] NM_079834 SCAMP4 EXON Missense_T82M exm1402322 19 1918248 [A/G] NM_079834 SCAMP4 EXON Missense_V87M exm1402331 19 1923069 [T/C] NM_079834 SCAMP4 EXON Synonymous_C132C exm1402339 19 1923118 [A/G] NM_079834 SCAMP4 EXON Missense_V149M exm1402342 19 1923155 [T/C] NM_079834 SCAMP4 EXON Missense_S161L exm1402344 19 1923176 [T/C] NM_079834 SCAMP4 EXON Missense_A168V exm1928421 19 1924168 [T/C] NM_079834 SCAMP4 EXON Missense_T192M exm1402351 19 1924189 [T/C] NM_079834 SCAMP4 EXON Missense_P199L exm1402412 19 1978886 [A/G] NM_001319 CSNK1G2 EXON Missense_K159R exm1402414 19 1978927 [T/G] NM_001319 CSNK1G2 EXON Missense_V173L exm1402425 19 1979495 [A/G] NM_001319 CSNK1G2 EXON Synonymous_E285E exm2253718 19 1979573 [G/C] NM_001319 CSNK1G2 EXON Synonymous_L311L exm1402436 19 1979811 [A/G] NM_001319 CSNK1G2 EXON Missense_T355A exm1402439 19 1979923 [T/C] NM_001319 CSNK1G2 EXON Missense_T367I exm2253719 19 1986931 [T/C] NM_017797 BTBD2 EXON Synonymous_T438T exm1402490 19 1987562 [A/C] NM_017797 BTBD2 EXON Missense_S373I exm1402491 19 1987601 [A/G] NM_017797 BTBD2 EXON Missense_I360T exm1402495 19 1987649 [T/C] NM_017797 BTBD2 EXON Missense_S344N exm1402498 19 1987679 [A/G] NM_017797 BTBD2 EXON Missense_S334L exm1402499 19 1987686 [T/C] NM_017797 BTBD2 EXON Missense_A332T exm1402513 19 1990174 [T/C] NM_017797 BTBD2 EXON Missense_D273N exm1402518 19 1990769 [T/C] NM_017797 BTBD2 EXON Missense_D246G exm1402522 19 1993033 [T/C] NM_017797 BTBD2 EXON Missense_M224V exm1402526 19 1993101 [A/G] NM_017797 BTBD2 EXON Missense_A201V exm1402568 19 2039727 [T/C] NM_199054,NM_017572 MKNK2,MKNK2 EXON Missense_R428Q,Silent exm1402570 19 2039746 [T/C] NM_199054,NM_017572 MKNK2,MKNK2 EXON Missense_G422S,Silent exm1402573 19 2039764 [T/C] NM_199054,NM_017572 MKNK2,MKNK2 EXON Missense_E416K,Silent exm1402591 19 2041071 [T/C] NM_199054,NM_017572 MKNK2,MKNK2 EXON Missense_A360T,Missense_A360T exm1402628 19 2046281 [A/G] NM_199054,NM_017572 MKNK2,MKNK2 EXON Synonymous_D81D,Synonymous_D81D exm2253722 19 2046436 [A/C] NM_199054,NM_017572 MKNK2,MKNK2 EXON Synonymous_P57P,Synonymous_P57P exm1402646 19 2046648 [T/C] NM_199054,NM_017572 MKNK2,MKNK2 EXON Missense_D32N,Missense_D32N exm1402663 19 2050823 [T/G] NM_199054,NM_017572 MKNK2,MKNK2 EXON Missense_Q10K,Missense_Q10K exm1402672 19 2073407 [T/C] NM_130807 MOB3A EXON Missense_R214Q exm1402684 19 2076911 [T/C] NM_130807 MOB3A EXON Missense_A175T exm1402688 19 2076974 [T/G] NM_130807 MOB3A EXON Missense_K154Q exm1929312 19 2078144 [T/A] NM_130807 MOB3A EXON Missense_N139I exm1402698 19 2078181 [T/C] NM_130807 MOB3A EXON Missense_E127K exm1402705 19 2078228 [A/G] NM_130807 MOB3A EXON Missense_T111M exm1402706 19 2078237 [T/C] NM_130807 MOB3A EXON Missense_R108Q exm1402707 19 2078238 [A/G] NM_130807 MOB3A EXON Missense_R108W exm1402708 19 2078279 [T/C] NM_130807 MOB3A EXON Missense_G94D exm2253723 19 2078416 [A/G] NM_130807 MOB3A EXON Synonymous_A48A exm1402735 19 2078502 [A/G] NM_130807 MOB3A EXON Missense_R20C exm2253724 19 2079299 [A/G] NM_130807 MOB3A Silent exm2228740 19 2097048 [A/G] NM_001039846,NM_001031735 IZUMO4,IZUMO4 EXON Missense_H35R,Missense_H35R exm1402742 19 2097056 [T/C] NM_001039846,NM_001031735 IZUMO4,IZUMO4 EXON Missense_F38L,Missense_F38L exm1402761 19 2097930 [T/C] NM_001039846,NM_001031735 IZUMO4,IZUMO4 EXON Missense_R125C,Missense_R125C exm1402762 19 2097948 [T/C] NM_001039846,NM_001031735 IZUMO4,IZUMO4 EXON Missense_R131C,Missense_R131C exm1402767 19 2098056 [T/C] NM_001039846,NM_001031735 IZUMO4,IZUMO4 EXON Missense_F135L,Missense_F135L exm1402768 19 2098063 [A/T] NM_001039846,NM_001031735 IZUMO4,IZUMO4 EXON Missense_Y137F,Missense_Y137F exm1402772 19 2098096 [T/C] NM_001039846,NM_001031735 IZUMO4,IZUMO4 EXON Missense_S148L,Missense_S148L exm1402781 19 2098291 [T/C] NM_001039846,NM_001031735 IZUMO4,IZUMO4 EXON Missense_S160L,Missense_S160L exm1402782 19 2098294 [T/C] NM_001039846,NM_001031735 IZUMO4,IZUMO4 EXON Missense_A161V,Missense_A161V exm1402798 19 2098794 [T/C] NM_001039846,NM_001031735 IZUMO4,IZUMO4 EXON Missense_T182M,Missense_T182M exm1402807 19 2099012 [A/G] NM_001039846,NM_001031735 IZUMO4,IZUMO4 EXON Missense_R198G,Silent exm1402821 19 2099264 [T/C] NM_001039846,NM_001031735 IZUMO4,IZUMO4 EXON Missense_P207S,Missense_P189S exm1402824 19 2099288 [T/C] NM_001039846,NM_001031735 IZUMO4,IZUMO4 EXON Missense_P215S,Missense_P197S exm1402826 19 2099327 [T/C] NM_001039846,NM_001031735 IZUMO4,IZUMO4 EXON Missense_C228R,Missense_C210R exm1402831 19 2102198 [T/C] NM_003938,NM_001261826 AP3D1,AP3D1 EXON Missense_M1146V,Missense_M1208V exm1402834 19 2102224 [A/G] NM_003938,NM_001261826 AP3D1,AP3D1 EXON Missense_T1137M,Missense_T1199M exm1402847 19 2109122 [T/A] NM_003938,NM_001261826 AP3D1,AP3D1 EXON Missense_N1083K,Missense_N1145K exm1402849 19 2109157 [T/C] NM_003938,NM_001261826 AP3D1,AP3D1 EXON Missense_I1072V,Missense_I1134V exm1402859 19 2110222 [A/G] NM_003938,NM_001261826 AP3D1,AP3D1 EXON Synonymous_G997G,Synonymous_G1059G exm1402862 19 2110739 [T/C] NM_003938,NM_001261826 AP3D1,AP3D1 EXON Missense_D986N,Missense_D1048N exm1402864 19 2110759 [A/G] NM_003938,NM_001261826 AP3D1,AP3D1 EXON Missense_P979L,Missense_P1041L exm1402881 19 2111779 [A/G] NM_003938,NM_001261826 AP3D1,AP3D1 EXON Missense_R884W,Missense_R946W exm1402884 19 2111803 [T/G] NM_003938,NM_001261826 AP3D1,AP3D1 EXON Missense_K876Q,Missense_K938Q exm1402886 19 2112860 [T/C] NM_003938,NM_001261826 AP3D1,AP3D1 EXON Silent,Missense_K929R exm1402921 19 2115313 [T/C] NM_003938,NM_001261826 AP3D1,AP3D1 EXON Missense_K752E,Missense_K752E exm1402932 19 2115591 [T/C] NM_003938,NM_001261826 AP3D1,AP3D1 EXON Missense_V699M,Missense_V699M exm1402960 19 2118692 [T/C] NM_003938,NM_001261826 AP3D1,AP3D1 EXON Missense_G541R,Missense_G541R exm1402975 19 2120979 [T/C] NM_003938,NM_001261826 AP3D1,AP3D1 EXON Missense_A455T,Missense_A455T exm1403015 19 2130408 [A/G] NM_003938,NM_001261826 AP3D1,AP3D1 EXON Synonymous_P197P,Synonymous_P197P exm1403042 19 2138704 [T/C] NM_003938,NM_001261826 AP3D1,AP3D1 EXON Missense_I36V,Missense_I36V exm-rs3803915 19 2160529 [A/C] exm-rs12986413 19 2170954 [A/T] NM_032482 DOT1L Silent exm-rs12982744 19 2177193 [G/C] NM_032482 DOT1L Silent exm1403071 19 2191238 [T/C] NM_032482 DOT1L EXON Synonymous_S164S exm1403100 19 2210659 [A/G] NM_032482 DOT1L EXON Missense_V386M exm1403138 19 2214564 [T/C] NM_032482 DOT1L EXON Missense_S631L exm1403157 19 2216526 [A/G] NM_032482 DOT1L EXON Missense_G724S exm1403174 19 2217786 [A/G] NM_032482 DOT1L EXON Missense_A854T exm1403214 19 2222325 [A/G] NM_032482 DOT1L EXON Missense_A1053T exm1403218 19 2222379 [A/G] NM_032482 DOT1L EXON Missense_A1071T exm2253731 19 2223435 [T/A] NM_032482 DOT1L EXON Synonymous_P1182P exm1403255 19 2226285 [T/G] NM_032482 DOT1L EXON Missense_K1255N exm1403264 19 2226415 [T/A] NM_032482 DOT1L EXON Missense_S1299T exm1403267 19 2226446 [A/G] NM_032482 DOT1L EXON Missense_G1309D exm1403272 19 2226655 [A/C] NM_032482 DOT1L EXON Missense_L1379M exm1403277 19 2226772 [G/C] NM_032482 DOT1L EXON Missense_V1418L exm1403324 19 2233855 [T/C] NM_018049 PLEKHJ1 EXON Missense_S145N exm1403326 19 2233877 [T/C] NM_018049 PLEKHJ1 EXON Missense_E138K exm1930021 19 2234004 [A/G] NM_018049 PLEKHJ1 EXON Missense_T126M exm1403331 19 2234013 [T/C] NM_018049 PLEKHJ1 EXON Missense_R123Q exm1403333 19 2234056 [T/C] NM_018049 PLEKHJ1 EXON Missense_E109K exm1403340 19 2234149 [T/C] NM_018049 PLEKHJ1 EXON Missense_S107N exm1403342 19 2234156 [A/G] NM_018049 PLEKHJ1 EXON Missense_R105W exm1403374 19 2246770 [T/C] NM_007165 SF3A2 EXON Missense_S125L exm1403445 19 2249384 [T/C] NM_000479 AMH EXON Missense_A18V exm1403452 19 2249477 [T/G] NM_000479 AMH EXON Missense_S49I exm1403470 19 2249635 [A/G] NM_000479 AMH EXON Missense_V102I exm1930107 19 2249681 [A/G] NM_000479 AMH EXON Missense_R117Q exm1403477 19 2250351 [T/C] NM_000479 AMH EXON Missense_T143I exm1403487 19 2250661 [T/C] NM_000479,NR_036207 AMH,MIR4321 EXON Missense_P189L,Silent exm1403526 19 2251817 [T/C] NM_000479 AMH EXON Missense_V515A exm1403527 19 2251825 [A/G] NM_000479 AMH EXON Missense_A518T exm1403544 19 2252525 [A/G] NM_144616 JSRP1 EXON Missense_P267S exm1403547 19 2252557 [C/G] NM_144616 JSRP1 EXON Missense_P256R exm1403550 19 2252626 [T/C] NM_144616 JSRP1 EXON Missense_R233Q exm1403553 19 2252712 [A/C] NM_144616 JSRP1 EXON Missense_S204R exm1403568 19 2253655 [T/C] NM_144616 JSRP1 EXON Missense_V134M exm2275017 19 2254250 [T/C] NM_144616 JSRP1 EXON Missense_M66I exm1403582 19 2254458 [T/C] NM_144616 JSRP1 EXON Missense_G45S exm1403593 19 2255311 [G/C] NM_144616 JSRP1 EXON Missense_M1I exm1403600 19 2269728 [A/G] NM_004152 OAZ1 EXON Missense_G44D exm1403602 19 2271386 [T/C] NM_004152 OAZ1 EXON Missense_S50F exm1403606 19 2271415 [T/C] NM_004152 OAZ1 EXON Missense_P60S exm1403621 19 2271915 [G/C] NM_004152 OAZ1 EXON Missense_D143H exm1930152 19 2271924 [A/C] NM_004152 OAZ1 EXON Synonymous_R146R exm1403624 19 2272758 [T/C] NM_004152 OAZ1 EXON Missense_X164R exm1403638 19 2275747 [A/C] NM_198532 C19orf35 EXON Missense_C452G exm1403662 19 2276398 [T/C] NM_198532 C19orf35 EXON Missense_G235S exm1403667 19 2278617 [A/G] NM_198532 C19orf35 EXON Missense_A193V exm1403689 19 2278935 [T/C] NM_198532 C19orf35 EXON Missense_R87Q exm1403690 19 2278936 [A/G] NM_198532 C19orf35 EXON Missense_R87W exm1930178 19 2279074 [A/G] NM_198532 C19orf35 EXON Missense_R41C exm1403726 19 2290600 [G/C] NM_001101391 LINGO3 EXON Missense_N392K exm1403736 19 2290977 [A/G] NM_001101391 LINGO3 EXON Missense_R267W exm1403797 19 2337520 [A/C] NM_152988,NM_001077238 SPPL2B,SPPL2B EXON Missense_Q89K,Missense_Q89K exm1403809 19 2338839 [T/C] NM_152988,NM_001077238 SPPL2B,SPPL2B EXON Missense_T153M,Missense_T153M exm1403846 19 2340992 [T/C] NM_152988,NM_001077238 SPPL2B,SPPL2B EXON Missense_A312V,Missense_A312V exm1403864 19 2344022 [A/G] NM_152988,NM_001077238 SPPL2B,SPPL2B EXON Missense_R366H,Missense_R366H exm1403865 19 2344034 [A/C] NM_152988,NM_001077238 SPPL2B,SPPL2B EXON Missense_P370Q,Missense_P370Q exm1930286 19 2345273 [G/C] NM_152988,NM_001077238 SPPL2B,SPPL2B EXON Missense_T433R,Missense_T433R exm1403879 19 2345327 [T/C] NM_152988,NM_001077238 SPPL2B,SPPL2B EXON Missense_S451L,Missense_S451L exm1403886 19 2351565 [T/C] NM_152988,NM_001077238 SPPL2B,SPPL2B EXON Missense_A496V,Missense_A496V exm2228822 19 2351568 [A/G] NM_152988,NM_001077238 SPPL2B,SPPL2B EXON Missense_C497Y,Missense_C497Y exm1403888 19 2351577 [A/G] NM_152988,NM_001077238 SPPL2B,SPPL2B EXON Missense_R500Q,Missense_R500Q exm1403889 19 2351591 [T/C] NM_152988,NM_001077238 SPPL2B,SPPL2B EXON Nonsense_R505X,Missense_R505W exm2228823 19 2353090 [T/C] NM_152988,NM_001077238 SPPL2B,SPPL2B EXON Missense_A554V,Silent exm1403901 19 2353114 [A/C] NM_152988,NM_001077238 SPPL2B,SPPL2B EXON Missense_E562A,Silent exm1403912 19 2389793 [A/G] NM_182973 TMPRSS9 EXON Missense_T4A exm1403917 19 2389831 [C/G] NM_182973 TMPRSS9 EXON Missense_K16N exm1403922 19 2389872 [C/G] NM_182973 TMPRSS9 EXON Missense_S30T exm1403930 19 2396536 [A/G] NM_182973 TMPRSS9 Silent exm1403935 19 2396593 [T/C] NM_182973 TMPRSS9 EXON Missense_R67W exm1403936 19 2396611 [T/C] NM_182973 TMPRSS9 EXON Missense_R73W exm1403938 19 2396614 [T/C] NM_182973 TMPRSS9 EXON Missense_R74W exm1403941 19 2396639 [T/C] NM_182973 TMPRSS9 EXON Missense_T82M exm1403947 19 2399071 [T/C] NM_182973 TMPRSS9 EXON Missense_L98F exm1403949 19 2399114 [A/G] NM_182973 TMPRSS9 EXON Missense_R112Q exm1403955 19 2399170 [A/G] NM_182973 TMPRSS9 EXON Missense_I131V exm1403963 19 2403082 [T/C] NM_182973 TMPRSS9 EXON Missense_R153C exm1403966 19 2403123 [T/A] NM_182973 TMPRSS9 EXON Nonsense_C166X exm1403969 19 2403185 [T/C] NM_182973 TMPRSS9 EXON Missense_A187V exm1403971 19 2405404 [A/G] NM_182973 TMPRSS9 EXON Missense_G201S exm1403977 19 2405456 [T/C] NM_182973 TMPRSS9 EXON Missense_A218V exm1403978 19 2405464 [C/G] NM_182973 TMPRSS9 EXON Missense_R221G exm1930424 19 2405495 [T/C] NM_182973 TMPRSS9 EXON Missense_A231V exm1403984 19 2408361 [A/G] NM_182973 TMPRSS9 EXON Missense_D250N exm2276586 19 2408368 [A/C] NM_182973 TMPRSS9 EXON Missense_T252K exm1403990 19 2408427 [T/C] NM_182973 TMPRSS9 EXON Missense_R272W exm1403992 19 2408448 [A/G] NM_182973 TMPRSS9 EXON Missense_V279I exm1403999 19 2408529 [T/C] NM_182973 TMPRSS9 EXON Missense_R306W exm1404005 19 2408628 [T/C] NM_182973 TMPRSS9 EXON Synonymous_L339L exm1404009 19 2410319 [C/G] NM_182973 TMPRSS9 EXON Missense_S360T exm1404010 19 2410327 [A/G] NM_182973 TMPRSS9 EXON Missense_G363S exm2253740 19 2410332 [T/C] NM_182973 TMPRSS9 EXON Synonymous_H364H exm1404012 19 2410345 [A/G] NM_182973 TMPRSS9 EXON Missense_R369G exm2253741 19 2410356 [T/C] NM_182973 TMPRSS9 EXON Synonymous_C372C exm1404013 19 2410356 [T/C] NM_182973 TMPRSS9 EXON Synonymous_C372C exm1930449 19 2413725 [G/C] NM_182973 TMPRSS9 EXON Missense_E394Q exm1404027 19 2413788 [A/G] NM_182973 TMPRSS9 EXON Missense_A415T exm1404030 19 2413798 [T/C] NM_182973 TMPRSS9 EXON Missense_P418L exm1404049 19 2415704 [A/G] NM_182973 TMPRSS9 EXON Missense_R503Q exm1404060 19 2415793 [A/G] NM_182973 TMPRSS9 EXON Missense_V533M exm1404064 19 2415823 [A/G] NM_182973 TMPRSS9 EXON Missense_A543T exm1404073 19 2416601 [T/C] NM_182973 TMPRSS9 EXON Missense_P570L exm1404075 19 2416621 [T/C] NM_182973 TMPRSS9 EXON Missense_R577W exm1404076 19 2416622 [A/G] NM_182973 TMPRSS9 EXON Missense_R577Q exm1404082 19 2416742 [T/C] NM_182973 TMPRSS9 EXON Missense_I617T exm1404083 19 2416756 [A/G] NM_182973 TMPRSS9 EXON Missense_V622M exm1404087 19 2416796 [A/G] NM_182973 TMPRSS9 EXON Missense_Q635R exm1404118 19 2422072 [T/C] NM_182973 TMPRSS9 EXON Missense_T758M exm1404119 19 2422087 [C/G] NM_182973 TMPRSS9 EXON Missense_T763R exm1404129 19 2422177 [A/G] NM_182973 TMPRSS9 EXON Missense_S793N exm1404168 19 2425409 [C/G] NM_182973 TMPRSS9 EXON Missense_T979S exm1404169 19 2425415 [A/G] NM_182973 TMPRSS9 EXON Missense_R981H exm1404170 19 2425421 [A/T] NM_182973 TMPRSS9 EXON Missense_F983Y exm1404183 19 2426019 [A/C] NM_182973,NM_012458 TMPRSS9,TIMM13 EXON Missense_H1038P,Silent exm1404185 19 2426037 [T/C] NM_182973,NM_012458 TMPRSS9,TIMM13 EXON Missense_T1044I,Silent exm1404214 19 2431569 [T/C] NM_032737 LMNB2 EXON Missense_E600K exm1404215 19 2431571 [T/C] NM_032737 LMNB2 EXON Missense_G599D exm1404219 19 2431617 [A/G] NM_032737 LMNB2 EXON Missense_R584C exm1404220 19 2431618 [A/C] NM_032737 LMNB2 EXON Missense_M583I exm1404222 19 2431625 [A/G] NM_032737 LMNB2 EXON Missense_S581L exm1404265 19 2434059 [A/C] NM_032737 LMNB2 EXON Missense_R416L exm1404266 19 2434074 [T/C] NM_032737 LMNB2 EXON Missense_R411H exm1404273 19 2434432 [T/C] NM_032737 LMNB2 EXON Missense_A355T exm1404288 19 2435039 [T/C] NM_032737 LMNB2 EXON Missense_R272Q exm1404293 19 2435111 [T/C] NM_032737 LMNB2 EXON Missense_R248Q exm1404294 19 2435115 [T/G] NM_032737 LMNB2 EXON Missense_S247R exm1404296 19 2435150 [T/C] NM_032737 LMNB2 EXON Missense_R235Q exm1404302 19 2438249 [T/C] NM_032737 LMNB2 EXON Missense_E199G exm1404305 19 2438271 [A/C] NM_032737 LMNB2 EXON Missense_A192S exm1404327 19 2476388 [A/G] NM_015675 GADD45B EXON Missense_N11S exm1404329 19 2476401 [A/G] NM_015675 GADD45B Silent exm2272753 19 2565877 [T/C] NM_052847 GNG7 Silent exm1404366 19 2717286 [T/C] NM_145173 DIRAS1 EXON Missense_M173I exm1404374 19 2717492 [T/C] NM_145173 DIRAS1 EXON Missense_V105M exm1404385 19 2732781 [T/C] NM_144564 SLC39A3 EXON Missense_V305I exm1404391 19 2732916 [T/C] NM_144564 SLC39A3 EXON Missense_V260M exm1404405 19 2733090 [T/C] NM_144564 SLC39A3 EXON Missense_V202M exm1404410 19 2733188 [T/C] NM_144564 SLC39A3 EXON Missense_R169H exm1404419 19 2733281 [A/G] NM_144564 SLC39A3 EXON Missense_M138T exm1404423 19 2733320 [A/G] NM_144564 SLC39A3 EXON Missense_S125L exm1404475 19 2762504 [A/G] NM_003021 SGTA EXON Synonymous_P212P exm1404512 19 2767683 [A/G] NM_003021 SGTA EXON Synonymous_V34V exm1404517 19 2769000 [C/G] NM_003021 SGTA EXON Missense_G23R exm1404532 19 2790526 [A/G] NM_003249 THOP1 EXON Missense_E42K exm1404552 19 2796148 [T/C] NM_003249 THOP1 EXON Missense_R150W exm1404564 19 2799757 [T/C] NM_003249 THOP1 EXON Missense_T186M exm1404570 19 2805101 [T/C] NM_003249 THOP1 EXON Missense_P226L exm2275018 19 2805172 [A/G] NM_003249 THOP1 EXON Missense_E250K exm1404584 19 2807449 [T/C] NM_003249 THOP1 EXON Missense_A299V exm1404590 19 2807532 [C/G] NM_003249 THOP1 EXON Missense_P327A exm1404596 19 2807601 [T/C] NM_003249 THOP1 EXON Missense_C350R exm2228845 19 2807749 [T/C] NM_003249 THOP1 EXON Missense_A399V exm1404618 19 2808399 [A/T] NM_003249 THOP1 EXON Missense_Y471F exm1404623 19 2810327 [T/C] NM_003249 THOP1 EXON Missense_T494I exm1404629 19 2810443 [T/C] NM_003249 THOP1 EXON Missense_R533W exm1404642 19 2811643 [A/G] NM_003249 THOP1 EXON Missense_A607T exm1404649 19 2811727 [A/G] NM_003249 THOP1 EXON Missense_S635G exm1404669 19 2823043 [T/C] NM_001102651 ZNF554 EXON Missense_A20V exm1404671 19 2823096 [T/C] NM_001102651 ZNF554 EXON Missense_P38S exm1404672 19 2823099 [T/C] NM_001102651 ZNF554 EXON Missense_R39C exm1404673 19 2823100 [A/G] NM_001102651 ZNF554 EXON Missense_R39H exm1404677 19 2827722 [A/C] NM_001102651 ZNF554 EXON Nonsense_Y78X exm1404678 19 2827729 [A/G] NM_001102651 ZNF554 EXON Missense_V81M exm1404679 19 2827741 [G/C] NM_001102651 ZNF554 EXON Missense_E85Q exm1930899 19 2832338 [A/T] NM_001102651 ZNF554 EXON Missense_K97N exm1404683 19 2832364 [C/G] NM_001102651 ZNF554 EXON Missense_T106S exm1404684 19 2832390 [T/C] NM_001102651 ZNF554 EXON Missense_W115R exm1404686 19 2832448 [T/C] NM_001102651 ZNF554 EXON Missense_A134V exm1404691 19 2832489 [T/G] NM_001102651 ZNF554 EXON Missense_S148A exm1404692 19 2833682 [T/G] NM_001102651 ZNF554 EXON Missense_W150L exm1404695 19 2833745 [T/C] NM_001102651 ZNF554 EXON Missense_A171V exm1404697 19 2833748 [A/G] NM_001102651 ZNF554 EXON Missense_S172N exm1404699 19 2833802 [A/G] NM_001102651 ZNF554 EXON Missense_E190G exm1404702 19 2833864 [A/G] NM_001102651 ZNF554 EXON Missense_V211I exm1404703 19 2833874 [A/G] NM_001102651 ZNF554 EXON Missense_E214G exm1404708 19 2833943 [A/G] NM_001102651 ZNF554 EXON Missense_G237E exm1404717 19 2834080 [T/C] NM_001102651 ZNF554 EXON Missense_R283C exm1404729 19 2834336 [T/C] NM_001102651 ZNF554 EXON Missense_T368M exm1404738 19 2834443 [A/G] NM_001102651 ZNF554 EXON Missense_G404R exm1404741 19 2834527 [A/G] NM_001102651 ZNF554 EXON Missense_G432R exm1404743 19 2834548 [A/C] NM_001102651 ZNF554 EXON Missense_S439R exm1404749 19 2834614 [A/G] NM_001102651 ZNF554 EXON Missense_E461K exm1404757 19 2834783 [A/G] NM_001102651 ZNF554 EXON Missense_Q517R exm1404773 19 2851485 [T/G] NM_152791,NM_001172775 ZNF555,ZNF555 EXON Missense_K50N,Missense_K50N exm1404774 19 2851489 [A/G] NM_152791,NM_001172775 ZNF555,ZNF555 EXON Missense_S52G,Missense_S52G exm1404783 19 2851645 [C/G] NM_152791,NM_001172775 ZNF555,ZNF555 EXON Missense_L104V,Missense_L104V exm1404787 19 2852412 [A/G] NM_152791,NM_001172775 ZNF555,ZNF555 EXON Missense_N117D,Missense_N116D exm1404792 19 2852448 [T/C] NM_152791,NM_001172775 ZNF555,ZNF555 EXON Missense_H129Y,Missense_H128Y exm1404793 19 2852473 [T/C] NM_152791,NM_001172775 ZNF555,ZNF555 EXON Missense_P137L,Missense_P136L exm1404795 19 2852503 [T/C] NM_152791,NM_001172775 ZNF555,ZNF555 EXON Missense_T147M,Missense_T146M exm1404811 19 2852817 [A/G] NM_152791,NM_001172775 ZNF555,ZNF555 EXON Missense_G252R,Missense_G251R exm1404839 19 2853364 [A/G] NM_152791,NM_001172775 ZNF555,ZNF555 EXON Missense_N434S,Missense_N433S exm1404843 19 2853465 [T/C] NM_152791,NM_001172775 ZNF555,ZNF555 EXON Nonsense_R468X,Nonsense_R467X exm1404848 19 2853532 [A/G] NM_152791,NM_001172775 ZNF555,ZNF555 EXON Missense_Y490C,Missense_Y489C exm2253746 19 2853566 [A/G] NM_152791,NM_001172775 ZNF555,ZNF555 EXON Synonymous_R501R,Synonymous_R500R exm1404854 19 2853573 [A/G] NM_152791,NM_001172775 ZNF555,ZNF555 EXON Missense_A504T,Missense_A503T exm1404859 19 2853671 [T/G] NM_152791,NM_001172775 ZNF555,ZNF555 EXON Nonsense_Y536X,Nonsense_Y535X exm1404862 19 2853727 [T/C] NM_152791,NM_001172775 ZNF555,ZNF555 EXON Missense_M555T,Missense_M554T exm1404879 19 2873531 [T/C] NM_024967 ZNF556 EXON Missense_T14M exm1404883 19 2876090 [A/G] NM_024967 ZNF556 Silent exm1404888 19 2876258 [A/G] NM_024967 ZNF556 EXON Missense_K100E exm1404892 19 2877320 [T/C] NM_024967 ZNF556 EXON Missense_R122C exm1404898 19 2877365 [T/C] NM_024967 ZNF556 EXON Missense_R137C exm1404899 19 2877392 [T/C] NM_024967 ZNF556 EXON Missense_R146W exm1404905 19 2877513 [A/G] NM_024967 ZNF556 EXON Missense_R186H exm1404911 19 2877597 [A/G] NM_024967 ZNF556 EXON Missense_R214H exm1404913 19 2877618 [A/G] NM_024967 ZNF556 EXON Missense_H221R exm1930963 19 2877641 [A/G] NM_024967 ZNF556 EXON Missense_K229E exm1404917 19 2877663 [A/G] NM_024967 ZNF556 EXON Missense_C236Y exm1404922 19 2877696 [A/G] NM_024967 ZNF556 EXON Missense_R247H exm1404924 19 2877698 [A/G] NM_024967 ZNF556 EXON Missense_A248T exm1404926 19 2877719 [A/G] NM_024967 ZNF556 EXON Missense_G255R exm1404928 19 2877779 [T/C] NM_024967 ZNF556 EXON Nonsense_R275X exm2253749 19 2877802 [T/C] NM_024967 ZNF556 EXON Synonymous_A282A exm1404931 19 2877813 [T/C] NM_024967 ZNF556 EXON Missense_P286L exm2228853 19 2877829 [G/C] NM_024967 ZNF556 EXON Missense_Q291H exm1404937 19 2877872 [A/G] NM_024967 ZNF556 EXON Missense_V306M exm1404940 19 2877917 [A/G] NM_024967 ZNF556 EXON Missense_G321R exm1404941 19 2877923 [C/G] NM_024967 ZNF556 EXON Missense_A323P exm1404943 19 2877956 [A/G] NM_024967 ZNF556 EXON Missense_A334T exm1404947 19 2877998 [A/G] NM_024967 ZNF556 EXON Missense_V348M exm1404948 19 2878010 [T/C] NM_024967 ZNF556 EXON Missense_S352P exm1404949 19 2878013 [A/G] NM_024967 ZNF556 EXON Missense_A353T exm1404954 19 2878077 [T/C] NM_024967 ZNF556 EXON Missense_T374M exm1404964 19 2878238 [A/G] NM_024967 ZNF556 EXON Missense_E428K exm2268213 19 2888242 [A/G] exm1404983 19 2915619 [A/G] NM_173480 ZNF57 EXON Missense_E35K exm1404985 19 2915643 [A/G] NM_173480 ZNF57 EXON Missense_V43I exm1404987 19 2916100 [A/G] NM_173480 ZNF57 EXON Missense_N52S exm1404988 19 2916111 [T/G] NM_173480 ZNF57 EXON Missense_S56A exm1404995 19 2916927 [A/G] NM_173480 ZNF57 EXON Missense_H103R exm1405011 19 2917178 [A/G] NM_173480 ZNF57 EXON Missense_G187R exm1405019 19 2917269 [T/C] NM_173480 ZNF57 EXON Missense_T217I exm1405021 19 2917287 [A/C] NM_173480 ZNF57 EXON Missense_T223N exm1405024 19 2917307 [T/C] NM_173480 ZNF57 EXON Missense_R230W exm1405033 19 2917494 [T/C] NM_173480 ZNF57 EXON Missense_P292L exm1405034 19 2917509 [A/G] NM_173480 ZNF57 EXON Missense_R297K exm1405037 19 2917542 [A/G] NM_173480 ZNF57 EXON Missense_Y308C exm1405039 19 2917590 [A/G] NM_173480 ZNF57 EXON Missense_R324Q exm1930996 19 2917836 [T/C] NM_173480 ZNF57 EXON Missense_S406L exm1405060 19 2917845 [A/G] NM_173480 ZNF57 EXON Missense_G409D exm1405079 19 2918110 [A/G] NM_173480 ZNF57 EXON Missense_M497I exm1405085 19 2918218 [A/C] NM_173480 ZNF57 EXON Missense_E533D exm1405103 19 2933698 [T/G] NM_021217 ZNF77 EXON Missense_A476D exm2275020 19 2933737 [A/G] NM_021217 ZNF77 EXON Missense_P463L exm1405108 19 2933747 [T/C] NM_021217 ZNF77 EXON Missense_G460R exm1931011 19 2933929 [A/C] NM_021217 ZNF77 EXON Missense_V399G exm1405126 19 2934050 [T/C] NM_021217 ZNF77 EXON Missense_K359E exm1405133 19 2934107 [A/G] NM_021217 ZNF77 EXON Nonsense_R340X exm1405134 19 2934130 [A/G] NM_021217 ZNF77 EXON Missense_A332V exm1931015 19 2934436 [A/T] NM_021217 ZNF77 EXON Missense_H230L exm1405155 19 2934439 [A/C] NM_021217 ZNF77 EXON Missense_G229V exm1405157 19 2934454 [T/G] NM_021217 ZNF77 EXON Missense_P224H exm1405160 19 2934518 [T/C] NM_021217 ZNF77 EXON Missense_V203M exm1405162 19 2934569 [T/C] NM_021217 ZNF77 EXON Missense_V186I exm1405163 19 2934590 [A/G] NM_021217 ZNF77 EXON Missense_P179S exm1405164 19 2934602 [A/C] NM_021217 ZNF77 EXON Missense_S175A exm1405165 19 2934625 [T/C] NM_021217 ZNF77 EXON Missense_C167Y exm1405169 19 2934694 [A/C] NM_021217 ZNF77 EXON Missense_C144F exm1405172 19 2934729 [T/G] NM_021217 ZNF77 EXON Missense_H132Q exm1405178 19 2936535 [A/G] NM_021217 ZNF77 EXON Nonsense_Q100X exm1405179 19 2936559 [T/C] NM_021217 ZNF77 EXON Missense_T92A exm1931023 19 2936571 [T/C] NM_021217 ZNF77 EXON Missense_R88G exm1931024 19 2936633 [T/C] NM_021217 ZNF77 EXON Missense_N67S exm1405187 19 2936643 [T/C] NM_021217 ZNF77 EXON Missense_G64R exm1405188 19 2936648 [G/C] NM_021217 ZNF77 EXON Missense_G62A exm1405189 19 2936660 [T/C] NM_021217 ZNF77 EXON Missense_R58K exm1405190 19 2936664 [G/C] NM_021217 ZNF77 EXON Missense_Q57E exm1405195 19 2939366 [A/G] NM_021217 ZNF77 EXON Missense_P15S exm1405211 19 2987096 [A/G] NM_001143986,NM_024760 TLE6,TLE6 EXON Missense_R134Q,Missense_R11Q exm1405213 19 2987105 [A/G] NM_001143986,NM_024760 TLE6,TLE6 EXON Missense_G137E,Missense_G14E exm1405229 19 2987898 [T/C] NM_001143986,NM_024760 TLE6,TLE6 EXON Missense_P210S,Missense_P87S exm1405231 19 2987929 [G/C] NM_001143986,NM_024760 TLE6,TLE6 EXON Missense_P220R,Missense_P97R exm1405240 19 2989113 [T/C] NM_001143986,NM_024760 TLE6,TLE6 EXON Synonymous_P265P,Synonymous_P142P exm2253752 19 2989113 [T/C] NM_001143986,NM_024760 TLE6,TLE6 EXON Synonymous_P265P,Synonymous_P142P exm1405257 19 2989193 [T/C] NM_001143986,NM_024760 TLE6,TLE6 EXON Missense_T292M,Missense_T169M exm1405259 19 2989298 [A/C] NM_001143986,NM_024760 TLE6,TLE6 EXON Missense_H327P,Missense_H204P exm1405268 19 2989639 [T/C] NM_001143986,NM_024760 TLE6,TLE6 EXON Missense_P367L,Missense_P244L exm1405282 19 2991890 [T/C] NM_001143986,NM_024760 TLE6,TLE6 EXON Missense_Y432H,Missense_Y309H exm1405294 19 2993524 [A/G] NM_001143986,NM_024760 TLE6,TLE6 EXON Missense_R494Q,Missense_R371Q exm1405296 19 2993562 [A/G] NM_001143986,NM_024760 TLE6,TLE6 EXON Missense_V507I,Missense_V384I exm1405316 19 2994946 [T/C] NM_001143986,NM_024760 TLE6,TLE6 EXON Missense_R555C,Missense_R432C exm1405319 19 2994967 [A/G] NM_001143986,NM_024760 TLE6,TLE6 EXON Missense_G562R,Missense_G439R exm1405326 19 2997866 [T/C] NM_001144762,NM_001144761,NM_003260 TLE2,TLE2,TLE2 EXON Missense_V616M,Silent,Missense_V738M exm1405335 19 2997942 [T/C] NM_001144762,NM_001144761,NM_003260 TLE2,TLE2,TLE2 EXON Synonymous_S590S,Missense_V701I,Synonymous_S712S exm1405336 19 3000655 [T/C] NM_001144762,NM_001144761,NM_003260 TLE2,TLE2,TLE2 EXON Missense_S583N,Silent,Missense_S705N exm1405341 19 3002352 [A/G] NM_001144762,NM_001144761,NM_003260 TLE2,TLE2,TLE2 EXON Synonymous_C560C,Synonymous_C696C,Synonymous_C682C exm1405344 19 3002378 [T/C] NM_001144762,NM_001144761,NM_003260 TLE2,TLE2,TLE2 EXON Missense_V552M,Missense_V688M,Missense_V674M exm1405385 19 3008900 [A/G] NM_001144762,NM_001144761,NM_003260 TLE2,TLE2,TLE2 EXON Missense_S284F,Missense_S420F,Missense_S406F exm1405398 19 3011086 [T/C] NM_001144762,NM_001144761,NM_003260 TLE2,TLE2,TLE2 EXON Missense_G194R,Missense_G330R,Missense_G316R exm1405403 19 3011146 [T/C] NM_001144762,NM_001144761,NM_003260 TLE2,TLE2,TLE2 EXON Missense_A174T,Missense_A310T,Missense_A296T exm1405407 19 3013678 [T/C] NM_001144762,NM_001144761,NM_003260 TLE2,TLE2,TLE2 EXON Missense_E166K,Missense_E302K,Missense_E288K exm1405409 19 3013746 [T/C] NM_001144762,NM_001144761,NM_003260 TLE2,TLE2,TLE2 EXON Missense_R143H,Missense_R279H,Missense_R265H exm1405419 19 3015692 [T/C] NM_001144762,NM_001144761,NM_003260 TLE2,TLE2,TLE2 EXON Missense_G91R,Missense_G227R,Missense_G213R exm2275252 19 3019697 [A/C] NM_001144762,NM_001144761,NM_003260 TLE2,TLE2,TLE2 EXON Synonymous_G68G,Synonymous_G136G,Synonymous_G123G exm2253754 19 3030118 [A/G] NM_001144761 TLE2 Silent exm2253759 19 3061180 [A/G] NM_198970,NM_001130,NM_198969 AES,AES,AES EXON Synonymous_L35L,Synonymous_L35L,Synonymous_L102L exm1405518 19 3110203 [A/G] NM_002067 GNA11 EXON Missense_A65T exm1405539 19 3114973 [T/A] NM_002067 GNA11 EXON Missense_L170M exm1405573 19 3136456 [A/G] NM_002068 GNA15 EXON Missense_R3H exm1405581 19 3148645 [A/G] NM_002068 GNA15 EXON Missense_A68T exm1931406 19 3150130 [T/A] NM_002068 GNA15 EXON Missense_H111L exm1405592 19 3150139 [A/G] NM_002068 GNA15 EXON Missense_S114N exm1405593 19 3150149 [A/G] NM_002068 GNA15 EXON Missense_M117I exm1405614 19 3151763 [A/G] NM_002068 GNA15 EXON Missense_V182M exm1405616 19 3151780 [A/G] NM_002068 GNA15 EXON Missense_M187I exm2228880 19 3155863 [T/G] NM_002068 GNA15 EXON Missense_W219C exm1405639 19 3162842 [T/C] NM_002068 GNA15 EXON Missense_T317M exm1405678 19 3179280 [A/G] NM_003775 S1PR4 EXON Missense_G164S exm1405682 19 3179310 [A/G] NM_003775 S1PR4 EXON Missense_A174T exm1931472 19 3179355 [A/G] NM_003775 S1PR4 EXON Missense_A189T exm1405703 19 3179530 [A/G] NM_003775 S1PR4 EXON Missense_R247H exm1405709 19 3179657 [A/G] NM_003775 S1PR4 EXON Missense_M289I exm1405714 19 3179742 [A/G] NM_003775 S1PR4 EXON Missense_V318M exm1405734 19 3179931 [A/G] NM_003775 S1PR4 EXON Missense_V381M exm1405766 19 3193375 [A/C] NM_020170 NCLN EXON Missense_K157Q exm1405792 19 3204060 [A/G] NM_020170 NCLN EXON Missense_R316Q exm1405825 19 3206405 [A/G] NM_020170 NCLN EXON Missense_H494R exm1405838 19 3207646 [A/G] NM_020170 NCLN EXON Missense_K551R exm1405842 19 3207666 [G/C] NM_020170 NCLN EXON Missense_V558L exm-rs7257762 19 3281586 [A/G] NM_021938,NM_001172673,NR_033342 CELF5,CELF5,CELF5 Silent,Silent,Silent exm1405885 19 3282397 [A/G] NM_021938,NM_001172673,NR_033342 CELF5,CELF5,CELF5 EXON Missense_V314M,Silent,Silent exm1405892 19 3282484 [C/G] NM_021938,NM_001172673,NR_033342 CELF5,CELF5,CELF5 EXON Missense_V343L,Missense_V318L,Silent exm-rs11669592 19 3318510 [A/G] exm1405917 19 3381805 [A/C] NM_001245005,NM_205843,NM_001245002,NM_005597,NM_001245004 NFIC,NFIC,NFIC,NFIC,NFIC EXON Missense_F33L,Missense_F33L,Missense_F42L,Missense_F42L,Missense_F42L exm2228917 19 3381856 [A/C] NM_001245005,NM_205843,NM_001245002,NM_005597,NM_001245004 NFIC,NFIC,NFIC,NFIC,NFIC EXON Missense_D50E,Missense_D50E,Missense_D59E,Missense_D59E,Missense_D59E exm1405920 19 3381971 [A/G] NM_001245005,NM_205843,NM_001245002,NM_005597,NM_001245004 NFIC,NFIC,NFIC,NFIC,NFIC EXON Missense_G89S,Missense_G89S,Missense_G98S,Missense_G98S,Missense_G98S exm1405925 19 3382176 [T/C] NM_001245005,NM_205843,NM_001245002,NM_005597,NM_001245004 NFIC,NFIC,NFIC,NFIC,NFIC EXON Missense_P157L,Missense_P157L,Missense_P166L,Missense_P166L,Missense_P166L exm2228918 19 3382233 [A/G] NM_001245005,NM_205843,NM_001245002,NM_005597,NM_001245004 NFIC,NFIC,NFIC,NFIC,NFIC EXON Missense_R176H,Missense_R176H,Missense_R185H,Missense_R185H,Missense_R185H exm1405932 19 3425118 [A/G] NM_001245005,NM_205843,NM_001245002,NM_005597,NM_001245004 NFIC,NFIC,NFIC,NFIC,NFIC EXON Missense_G184S,Missense_G184S,Missense_G193S,Missense_G193S,Missense_G193S exm1405944 19 3434359 [C/G] NM_001245005,NM_205843,NM_001245002,NM_005597,NM_001245004 NFIC,NFIC,NFIC,NFIC,NFIC EXON Missense_T256S,Missense_T256S,Missense_T265S,Missense_T265S,Missense_T265S exm1405958 19 3449087 [A/G] NM_001245005,NM_205843,NM_001245002,NM_005597,NM_001245004 NFIC,NFIC,NFIC,NFIC,NFIC EXON Missense_R336H,Missense_R336H,Missense_R345H,Missense_R345H,Missense_R345H exm1405979 19 3453825 [T/C] NM_001245005,NM_205843,NM_001245002,NM_005597,NM_001245004 NFIC,NFIC,NFIC,NFIC,NFIC EXON Silent,Missense_P436L,Missense_P445L,Silent,Silent exm1405980 19 3453831 [T/C] NM_001245005,NM_205843,NM_001245002,NM_005597,NM_001245004 NFIC,NFIC,NFIC,NFIC,NFIC EXON Silent,Missense_P438L,Missense_P447L,Silent,Silent exm1405998 19 3478456 [A/G] NM_001136503 C19orf77 EXON Missense_T67I exm2228925 19 3478469 [A/C] NM_001136503 C19orf77 EXON Missense_D63Y exm1406040 19 3496590 [T/C] NM_001145165,NM_031304 DOHH,DOHH EXON Missense_V75M,Missense_V75M exm1406041 19 3496596 [T/C] NM_001145165,NM_031304 DOHH,DOHH EXON Missense_M73V,Missense_M73V exm1406057 19 3496775 [A/G] NM_001145165,NM_031304 DOHH,DOHH EXON Missense_T13M,Missense_T13M exm1406067 19 3523055 [A/G] NM_016263,NM_001136198,NM_001136197 FZR1,FZR1,FZR1 EXON Missense_R23H,Missense_R23H,Missense_R23H exm1932542 19 3525882 [A/G] NM_016263,NM_001136198,NM_001136197 FZR1,FZR1,FZR1 EXON Missense_R29Q,Missense_R29Q,Missense_R29Q exm1406103 19 3531788 [T/C] NM_016263,NM_001136198,NM_001136197 FZR1,FZR1,FZR1 EXON Missense_M266T,Missense_M266T,Missense_M177T exm1406106 19 3531959 [A/G] NM_016263,NM_001136198,NM_001136197 FZR1,FZR1,FZR1 EXON Missense_M292V,Missense_M292V,Missense_M203V exm1406108 19 3531983 [A/C] NM_016263,NM_001136198,NM_001136197 FZR1,FZR1,FZR1 EXON Missense_T300P,Missense_T300P,Missense_T211P exm1406142 19 3539203 [T/C] NM_021731,NM_001042680,NM_001135580 MFSD12,MFSD12,C19orf71 EXON Silent,Silent,Missense_R10W exm1406143 19 3539204 [A/G] NM_021731,NM_001042680,NM_001135580 MFSD12,MFSD12,C19orf71 EXON Silent,Silent,Missense_R10Q exm1406150 19 3542792 [T/C] NM_021731,NM_001042680,NM_001135580 MFSD12,MFSD12,C19orf71 EXON Nonsense_W535X,Silent,Silent exm1406153 19 3542948 [T/C] NM_021731,NM_001042680,NM_001135580 MFSD12,MFSD12,C19orf71 EXON Missense_G483E,Silent,Silent exm1406154 19 3542954 [T/C] NM_021731,NM_001042680,NM_001135580 MFSD12,MFSD12,C19orf71 EXON Missense_G481E,Silent,Silent exm1406163 19 3543397 [T/C] NM_021731,NM_001042680,NM_001135580 MFSD12,MFSD12,C19orf71 EXON Silent,Silent,Missense_P83L exm1406172 19 3543597 [A/G] NM_021731,NM_001042680,NM_001135580 MFSD12,MFSD12,C19orf71 EXON Silent,Silent,Missense_V123I exm1406174 19 3543640 [T/C] NM_021731,NM_001042680,NM_001135580 MFSD12,MFSD12,C19orf71 EXON Silent,Silent,Missense_A137V exm1406182 19 3543880 [A/G] NM_021731,NM_001042680,NM_001135580 MFSD12,MFSD12,C19orf71 EXON Silent,Silent,Missense_V168M exm1406183 19 3543908 [T/C] NM_021731,NM_001042680,NM_001135580 MFSD12,MFSD12,C19orf71 EXON Silent,Silent,Missense_P177L exm1406194 19 3544715 [T/C] NM_021731,NM_001042680,NM_174983 MFSD12,MFSD12,MFSD12 EXON Silent,Silent,Missense_R479Q exm1406195 19 3544716 [A/G] NM_021731,NM_001042680,NM_174983 MFSD12,MFSD12,MFSD12 EXON Silent,Silent,Missense_R479W exm1406201 19 3544810 [A/G] NM_021731,NM_001042680,NM_174983 MFSD12,MFSD12,MFSD12 EXON Missense_R473C,Missense_R473C,Missense_R473C exm1406205 19 3544819 [A/G] NM_021731,NM_001042680,NM_174983 MFSD12,MFSD12,MFSD12 EXON Missense_R470C,Missense_R470C,Missense_R470C exm1406221 19 3544908 [T/C] NM_021731,NM_001042680,NM_174983 MFSD12,MFSD12,MFSD12 EXON Missense_S440N,Missense_S440N,Missense_S440N exm1406227 19 3546072 [A/G] NM_021731,NM_001042680,NM_174983 MFSD12,MFSD12,MFSD12 EXON Missense_P430L,Missense_P430L,Missense_P430L exm1406239 19 3546254 [A/G] NM_021731,NM_001042680,NM_174983 MFSD12,MFSD12,MFSD12 EXON Missense_T398M,Missense_T398M,Missense_T398M exm1406243 19 3546278 [A/G] NM_021731,NM_001042680,NM_174983 MFSD12,MFSD12,MFSD12 EXON Missense_T390M,Missense_T390M,Missense_T390M exm1406250 19 3546303 [T/C] NM_021731,NM_001042680,NM_174983 MFSD12,MFSD12,MFSD12 EXON Missense_I382V,Missense_I382V,Missense_I382V exm1406260 19 3546371 [A/G] NM_021731,NM_001042680,NM_174983 MFSD12,MFSD12,MFSD12 EXON Missense_A359V,Missense_A359V,Missense_A359V exm1406261 19 3546381 [T/C] NM_021731,NM_001042680,NM_174983 MFSD12,MFSD12,MFSD12 EXON Missense_A356T,Missense_A356T,Missense_A356T exm1406273 19 3547315 [G/C] NM_021731,NM_001042680,NM_174983 MFSD12,MFSD12,MFSD12 EXON Missense_L326F,Missense_L326F,Missense_L326F exm1406307 19 3548122 [T/C] NM_021731,NM_001042680,NM_174983 MFSD12,MFSD12,MFSD12 EXON Missense_R218Q,Missense_R218Q,Missense_R218Q exm1406311 19 3548168 [T/C] NM_021731,NM_001042680,NM_174983 MFSD12,MFSD12,MFSD12 EXON Missense_I203V,Missense_I203V,Missense_I203V exm1406341 19 3557305 [T/C] NM_021731,NM_001042680,NM_174983 MFSD12,MFSD12,MFSD12 EXON Missense_D33N,Missense_D33N,Missense_D33N exm2260856 19 3565357 [T/C] exm1406350 19 3573767 [A/G] NM_006339 HMG20B EXON Missense_R39H exm1406371 19 3576922 [A/G] NM_006339 HMG20B EXON Missense_M209V exm1406407 19 3586840 [A/G] NM_133261 GIPC3 EXON Missense_R147Q exm1406415 19 3589461 [T/C] NM_133261 GIPC3 EXON Missense_R205W exm1406418 19 3589515 [T/C] NM_133261 GIPC3 EXON Missense_R223W exm1406442 19 3590105 [A/G] NM_133261 GIPC3 EXON Missense_V286I exm1406451 19 3594863 [T/C] NM_001060,NM_201636 TBXA2R,TBXA2R EXON Silent,Missense_T399A exm1406466 19 3595870 [T/G] NM_001060,NM_201636 TBXA2R,TBXA2R EXON Missense_S283Y,Missense_S283Y exm1406476 19 3599984 [T/C] NM_001060,NM_201636 TBXA2R,TBXA2R EXON Missense_V217I,Missense_V217I exm1406491 19 3600437 [A/G] NM_001060,NM_201636 TBXA2R,TBXA2R EXON Missense_F66L,Missense_F66L exm2253785 19 3611999 [C/G] NR_038865,NM_001080543,NM_021231 CACTIN-AS1,CACTIN,CACTIN EXON Silent,Synonymous_R733R,Synonymous_R733R exm1406531 19 3613346 [A/G] NR_038865,NM_001080543,NM_021231 CACTIN-AS1,CACTIN,CACTIN EXON Silent,Missense_A499V,Missense_A499V exm2253786 19 3618958 [A/G] NM_001080543,NM_021231 CACTIN,CACTIN EXON Synonymous_N359N,Synonymous_N359N exm1406574 19 3620705 [T/C] NM_001080543,NM_021231 CACTIN,CACTIN EXON Synonymous_K246K,Synonymous_K246K exm1406583 19 3624005 [A/G] NM_001080543,NM_021231 CACTIN,CACTIN EXON Missense_S108L,Missense_S108L exm1406586 19 3624101 [T/C] NM_001080543,NM_021231 CACTIN,CACTIN EXON Missense_R76Q,Missense_R76Q exm1406588 19 3624140 [T/C] NM_001080543,NM_021231 CACTIN,CACTIN EXON Missense_R63Q,Missense_R63Q exm1933860 19 3633452 [T/C] NM_012398,NM_001195733 PIP5K1C,PIP5K1C EXON Missense_D663N,Silent exm1406608 19 3633464 [A/G] NM_012398,NM_001195733 PIP5K1C,PIP5K1C EXON Missense_P659S,Silent exm1406629 19 3641787 [A/G] NM_012398,NM_001195733 PIP5K1C,PIP5K1C EXON Missense_A568V,Missense_A568V exm1406641 19 3643378 [A/G] NM_012398,NM_001195733 PIP5K1C,PIP5K1C EXON Synonymous_G504G,Synonymous_G504G exm1406660 19 3645992 [A/G] NM_012398,NM_001195733 PIP5K1C,PIP5K1C EXON Missense_T442M,Missense_T442M exm1406677 19 3648677 [T/C] NM_012398,NM_001195733 PIP5K1C,PIP5K1C EXON Missense_R386H,Missense_R386H exm1406725 19 3667334 [T/C] NM_012398,NM_001195733 PIP5K1C,PIP5K1C EXON Missense_A38T,Missense_A38T exm1406733 19 3728414 [T/C] NM_001267560,NM_001267561 TJP3,TJP3 Silent,Silent exm1406738 19 3728464 [A/G] NM_001267560,NM_001267561 TJP3,TJP3 EXON Missense_A12T,Missense_A21T exm1406745 19 3728642 [A/G] NM_001267560,NM_001267561 TJP3,TJP3 EXON Missense_R30Q,Missense_R39Q exm1406754 19 3730081 [A/G] NM_001267560,NM_001267561 TJP3,TJP3 EXON Missense_A72T,Missense_A81T exm1406767 19 3730474 [A/G] NM_001267560,NM_001267561 TJP3,TJP3 EXON Missense_R128Q,Missense_R137Q exm1406775 19 3730617 [A/C] NM_001267560,NM_001267561 TJP3,TJP3 EXON Missense_L176M,Missense_L185M exm1406788 19 3732005 [A/G] NM_001267560,NM_001267561 TJP3,TJP3 EXON Missense_R229H,Missense_R238H exm1406794 19 3733848 [A/G] NM_001267560,NM_001267561 TJP3,TJP3 EXON Missense_R272H,Missense_R281H exm1406796 19 3733872 [C/G] NM_001267560,NM_001267561 TJP3,TJP3 EXON Missense_P280R,Missense_P289R exm1406797 19 3733883 [T/A] NM_001267560,NM_001267561 TJP3,TJP3 EXON Missense_S284C,Missense_S293C exm1406803 19 3734343 [T/C] NM_001267560,NM_001267561 TJP3,TJP3 EXON Missense_S299L,Missense_S308L exm1406810 19 3735574 [T/C] NM_001267560,NM_001267561 TJP3,TJP3 EXON Missense_R333W,Missense_R342W exm1406811 19 3735580 [T/C] NM_001267560,NM_001267561 TJP3,TJP3 EXON Missense_R335W,Missense_R344W exm2229056 19 3735918 [A/G] NM_001267560,NM_001267561 TJP3,TJP3 EXON Missense_S371N,Missense_S380N exm1406823 19 3736189 [A/G] NM_001267560,NM_001267561 TJP3,TJP3 EXON Missense_R385H,Missense_R394H exm1406825 19 3736212 [A/G] NM_001267560,NM_001267561 TJP3,TJP3 EXON Missense_G393R,Missense_G402R exm2229057 19 3736239 [A/G] NM_001267560,NM_001267561 TJP3,TJP3 EXON Missense_V402M,Missense_V411M exm1406826 19 3736255 [T/C] NM_001267560,NM_001267561 TJP3,TJP3 EXON Missense_S407F,Missense_S416F exm1406830 19 3736284 [A/G] NM_001267560,NM_001267561 TJP3,TJP3 EXON Missense_G417R,Missense_G426R exm1406843 19 3738661 [A/G] NM_001267560,NM_001267561 TJP3,TJP3 EXON Missense_I465V,Missense_I474V exm1406852 19 3738999 [A/G] NM_001267560,NM_001267561 TJP3,TJP3 EXON Missense_D500N,Missense_D509N exm2268173 19 3739673 [A/G] NM_001267560,NM_001267561 TJP3,TJP3 Silent,Silent exm1406873 19 3740644 [T/C] NM_001267560,NM_001267561 TJP3,TJP3 EXON Missense_R576W,Missense_R585W exm1406876 19 3740692 [T/C] NM_001267560,NM_001267561 TJP3,TJP3 EXON Missense_R592C,Missense_R601C exm1406883 19 3740740 [G/C] NM_001267560,NM_001267561 TJP3,TJP3 EXON Missense_E608Q,Missense_E617Q exm1406885 19 3743948 [T/C] NM_001267560,NM_001267561 TJP3,TJP3 EXON Missense_R619C,Missense_R628C exm2253798 19 3746512 [T/C] NM_001267560,NM_001267561 TJP3,TJP3 EXON Synonymous_P680P,Synonymous_P689P exm1406904 19 3746525 [T/C] NM_001267560,NM_001267561 TJP3,TJP3 EXON Missense_R685C,Missense_R694C exm1406907 19 3746573 [A/G] NM_001267560,NM_001267561 TJP3,TJP3 EXON Missense_E701K,Missense_E710K exm1406914 19 3746624 [C/G] NM_001267560,NM_001267561 TJP3,TJP3 EXON Missense_R718G,Missense_R727G exm1406915 19 3746628 [A/G] NM_001267560,NM_001267561 TJP3,TJP3 EXON Missense_R719H,Missense_R728H exm1406919 19 3746798 [A/G] NM_001267560,NM_001267561 TJP3,TJP3 EXON Missense_S749N,Missense_S758N exm1406929 19 3747874 [A/G] NM_001267560,NM_001267561 TJP3,TJP3 EXON Missense_R802H,Missense_R811H exm1406936 19 3747910 [A/G] NM_001267560,NM_001267561 TJP3,TJP3 EXON Missense_G814D,Missense_G823D exm1406940 19 3747927 [A/G] NM_001267560,NM_001267561 TJP3,TJP3 EXON Missense_E820K,Missense_E829K exm1406962 19 3750179 [T/C] NM_001267560,NM_001267561 TJP3,TJP3 EXON Missense_M885T,Missense_M894T exm1406966 19 3750615 [T/C] NM_001267560,NM_001267561 TJP3,TJP3 EXON Missense_M898T,Missense_M907T exm1406981 19 3751082 [A/G] NM_004886 APBA3 EXON Missense_T557M exm1934717 19 3751294 [A/G] NM_004886 APBA3 EXON Missense_R517C exm1406997 19 3751311 [T/C] NM_004886 APBA3 EXON Missense_R511H exm1407015 19 3752601 [A/G] NM_004886 APBA3 EXON Missense_R434C exm1407028 19 3752874 [A/G] NM_004886 APBA3 EXON Missense_C376R exm1407030 19 3752895 [T/C] NM_004886 APBA3 EXON Missense_V369M exm1407031 19 3752927 [T/C] NM_004886 APBA3 EXON Missense_R358Q exm1407043 19 3753807 [A/G] NM_004886 APBA3 EXON Missense_R323C exm1407044 19 3753816 [T/C] NM_004886 APBA3 EXON Missense_D320N exm1407055 19 3754039 [T/G] NM_004886 APBA3 EXON Missense_K276T exm1407056 19 3754058 [T/C] NM_004886 APBA3 EXON Missense_V270I exm1407057 19 3754071 [A/C] NM_004886 APBA3 EXON Missense_E265D exm1407063 19 3754252 [A/G] NM_004886 APBA3 EXON Missense_R235W exm1407080 19 3759730 [A/G] NM_004886 APBA3 EXON Missense_T178M exm1407081 19 3759751 [T/G] NM_004886 APBA3 EXON Missense_S171Y exm1407082 19 3759802 [A/C] NM_004886 APBA3 EXON Missense_W154L exm1407085 19 3759874 [T/C] NM_004886 APBA3 EXON Missense_E130G exm1407092 19 3760027 [A/G] NM_004886 APBA3 EXON Missense_A79V exm1407095 19 3760073 [A/C] NM_004886 APBA3 EXON Missense_F64V exm1934760 19 3760241 [A/G] NM_004886 APBA3 EXON Nonsense_R8X exm1407112 19 3762705 [A/G] NM_172251 MRPL54 EXON Missense_T3A exm2253799 19 3767265 [T/C] NM_172251 MRPL54 EXON Synonymous_F97F exm1407160 19 3771586 [A/G] NM_032753 RAX2 EXON Missense_P52L exm1407195 19 3779054 [T/C] NM_139354,NM_002378,NM_139355 MATK,MATK,MATK EXON Missense_R337Q,Missense_R379Q,Missense_R378Q exm1407200 19 3779145 [A/G] NM_139354,NM_002378,NM_139355 MATK,MATK,MATK EXON Missense_L307F,Missense_L349F,Missense_L348F exm1407225 19 3783835 [T/A] NM_139354,NM_002378,NM_139355 MATK,MATK,MATK EXON Missense_C146S,Missense_C188S,Missense_C187S exm1407268 19 3789321 [A/G] NM_002378 MATK EXON Nonsense_R9X exm1407277 19 3806021 [A/G] NM_015174 ZFR2 EXON Missense_R916W exm1407282 19 3806120 [T/C] NM_015174 ZFR2 EXON Missense_A883T exm1407283 19 3806125 [T/C] NM_015174 ZFR2 Silent exm1407286 19 3807217 [T/C] NM_015174 ZFR2 EXON Missense_E866K exm1407287 19 3807228 [T/G] NM_015174 ZFR2 EXON Missense_T862K exm1407300 19 3811298 [T/G] NM_015174 ZFR2 EXON Missense_A770D exm1407304 19 3811346 [A/G] NM_015174 ZFR2 EXON Missense_A754V exm1407309 19 3813906 [A/C] NM_015174 ZFR2 EXON Missense_I718M exm1407312 19 3813943 [T/C] NM_015174 ZFR2 EXON Missense_D706G exm1407324 19 3816751 [T/C] NM_015174 ZFR2 EXON Missense_R675H exm1407327 19 3816817 [A/G] NM_015174 ZFR2 EXON Missense_L653P exm1407344 19 3819206 [T/C] NM_015174 ZFR2 EXON Missense_D590N exm2253805 19 3821445 [T/C] NM_015174 ZFR2 EXON Synonymous_T508T exm1407371 19 3822179 [A/C] NM_015174 ZFR2 EXON Missense_R464L exm1407388 19 3825330 [T/C] NM_015174 ZFR2 EXON Missense_G371R exm1407389 19 3825333 [T/G] NM_015174 ZFR2 EXON Missense_P370T exm1407403 19 3827647 [T/C] NM_015174 ZFR2 EXON Missense_Y286C exm1407414 19 3831476 [G/C] NM_015174 ZFR2 EXON Missense_P226R exm1407415 19 3831486 [T/G] NM_015174 ZFR2 EXON Missense_P223T exm1407418 19 3831525 [A/C] NM_015174 ZFR2 EXON Missense_V210L exm1407425 19 3831709 [T/C] NM_015174 ZFR2 EXON Missense_V183M exm1407428 19 3831736 [T/C] NM_015174 ZFR2 EXON Missense_V174I exm1407433 19 3831765 [A/G] NM_015174 ZFR2 EXON Missense_S164L exm1407435 19 3831781 [T/C] NM_015174 ZFR2 EXON Missense_A159T exm1407442 19 3833661 [T/C] NM_015174 ZFR2 Silent exm2229120 19 3834779 [T/C] NM_015174 ZFR2 EXON Missense_T86A exm1407452 19 3834863 [T/C] NM_015174 ZFR2 EXON Missense_G58S exm1407456 19 3834902 [T/C] NM_015174 ZFR2 EXON Missense_V45M exm1407465 19 3868999 [T/C] NM_015174,NR_027149,NM_001145640 ZFR2,ZFR2,ZFR2 EXON Missense_Y6C,Silent,Missense_Y6C exm1407473 19 3902505 [A/G] NM_033064 ATCAY EXON Missense_G33E exm1407484 19 3907743 [A/G] NM_033064 ATCAY EXON Missense_V124M exm1407537 19 3936572 [C/G] NM_170678 NMRK2 Silent exm1407543 19 3937251 [T/C] NM_170678 NMRK2 EXON Missense_I44T exm1407545 19 3938599 [A/C] NM_170678 NMRK2 Silent exm1407547 19 3938639 [T/G] NM_170678 NMRK2 EXON Missense_V69L exm1407550 19 3938661 [T/C] NM_170678 NMRK2 EXON Missense_P76L exm1407574 19 3941163 [A/G] NM_170678 NMRK2 EXON Missense_G164S exm1407578 19 3942105 [A/G] NM_170678 NMRK2 EXON Missense_R176Q exm1407579 19 3942110 [A/G] NM_170678 NMRK2 EXON Missense_E178K exm1407581 19 3942147 [A/C] NM_170678 NMRK2 EXON Nonsense_S190X exm1407584 19 3942183 [T/C] NM_170678 NMRK2 EXON Missense_P202L exm1407591 19 3942222 [T/G] NM_170678 NMRK2 EXON Missense_C215F exm1407596 19 3942245 [A/G] NM_170678 NMRK2 EXON Missense_A223T exm1407597 19 3942249 [T/C] NM_170678 NMRK2 EXON Missense_A224V exm1407610 19 3959299 [T/C] NM_001348 DAPK3 EXON Missense_E389K exm1407613 19 3959320 [A/G] NM_001348 DAPK3 EXON Missense_R382W exm1407614 19 3959328 [C/G] NM_001348 DAPK3 EXON Missense_R379P exm1936553 19 3959392 [T/C] NM_001348 DAPK3 EXON Missense_A358T exm1936569 19 3961078 [G/C] NM_001348 DAPK3 EXON Missense_D237E exm1407681 19 3964835 [A/G] NM_001348 DAPK3 EXON Missense_H73Y exm2276588 19 3964961 [A/G] NM_001348 DAPK3 EXON Missense_R31W exm2253826 19 3979842 [T/C] NM_001961 EEF2 EXON Synonymous_G523G exm1936748 19 3979842 [T/C] NM_001961 EEF2 EXON Synonymous_G523G exm1936771 19 3981387 [T/C] NM_001961 EEF2 EXON Missense_I321V exm2253827 19 3982967 [A/G] NM_001961 EEF2 EXON Synonymous_R150R exm1407840 19 3983225 [T/C] NM_001961 EEF2 EXON Missense_G95S exm1407887 19 4013123 [T/C] NM_015897 PIAS4 EXON Missense_P77L exm1407891 19 4013168 [A/G] NM_015897 PIAS4 EXON Missense_R92Q exm1407899 19 4013276 [A/T] NM_015897 PIAS4 EXON Missense_K128M exm1407925 19 4028805 [A/G] NM_015897 PIAS4 EXON Missense_A254T exm1407952 19 4037454 [A/G] NM_015897 PIAS4 EXON Missense_A409T exm1407961 19 4037641 [T/C] NM_015897 PIAS4 EXON Missense_P434L exm1408018 19 4054825 [G/C] NM_015898 ZBTB7A EXON Missense_A136P exm1408041 19 4090637 [A/G] NM_030662 MAP2K2 EXON Missense_R388W exm1408060 19 4099225 [A/G] NM_030662 MAP2K2 EXON Missense_P298L exm2253849 19 4101032 [T/C] NM_030662 MAP2K2 EXON Synonymous_T230T exm1408129 19 4153773 [T/C] NM_001271996,NM_001271997,NM_001271995,NM_032607 CREB3L3,CREB3L3,CREB3L3,CREB3L3 Silent,Silent,Silent,Silent exm1408136 19 4154945 [T/C] NM_001271996,NM_001271997,NM_001271995,NM_032607 CREB3L3,CREB3L3,CREB3L3,CREB3L3 EXON Missense_L26P,Missense_L26P,Missense_L26P,Missense_L26P exm1408139 19 4154998 [A/G] NM_001271996,NM_001271997,NM_001271995,NM_032607 CREB3L3,CREB3L3,CREB3L3,CREB3L3 EXON Missense_E44K,Missense_E44K,Missense_E44K,Missense_E44K exm1408165 19 4159747 [A/G] NM_001271996,NM_001271997,NM_001271995,NM_032607 CREB3L3,CREB3L3,CREB3L3,CREB3L3 EXON Missense_D182N,Missense_D182N,Missense_D181N,Missense_D182N exm1408168 19 4164498 [A/G] NM_001271996,NM_001271997,NM_001271995,NM_032607 CREB3L3,CREB3L3,CREB3L3,CREB3L3 Silent,Silent,Silent,Silent exm1408173 19 4164623 [G/C] NM_001271996,NM_001271997,NM_001271995,NM_032607 CREB3L3,CREB3L3,CREB3L3,CREB3L3 EXON Missense_L232V,Missense_L234V,Missense_L233V,Missense_L234V exm1408175 19 4168357 [T/C] NM_001271996,NM_001271997,NM_001271995,NM_032607 CREB3L3,CREB3L3,CREB3L3,CREB3L3 EXON Nonsense_R240X,Silent,Nonsense_R241X,Nonsense_R242X exm1408190 19 4171739 [A/G] NM_001271996,NM_001271997,NM_001271995,NM_032607 CREB3L3,CREB3L3,CREB3L3,CREB3L3 EXON Missense_E385K,Silent,Missense_E386K,Missense_E387K exm1408191 19 4171755 [A/G] NM_001271996,NM_001271997,NM_001271995,NM_032607 CREB3L3,CREB3L3,CREB3L3,CREB3L3 EXON Missense_R390Q,Silent,Missense_R391Q,Missense_R392Q exm1408196 19 4171805 [A/G] NM_001271996,NM_001271997,NM_001271995,NM_032607 CREB3L3,CREB3L3,CREB3L3,CREB3L3 EXON Missense_A407T,Silent,Missense_A408T,Missense_A409T exm1938691 19 4171872 [T/G] NM_001271996,NM_001271997,NM_001271995,NM_032607 CREB3L3,CREB3L3,CREB3L3,CREB3L3 EXON Missense_G429V,Silent,Missense_G430V,Missense_G431V exm1408219 19 4174742 [T/C] NM_001193285,NM_016539 SIRT6,SIRT6 EXON Missense_G287S,Missense_G314S exm1408227 19 4174859 [T/C] NM_001193285,NM_016539 SIRT6,SIRT6 EXON Missense_A248T,Missense_A275T exm1408233 19 4175104 [T/C] NM_001193285,NM_016539 SIRT6,SIRT6 EXON Missense_R193Q,Missense_R220Q exm1408236 19 4175687 [T/C] NM_001193285,NM_016539 SIRT6,SIRT6 EXON Silent,Missense_E202K exm1408246 19 4175927 [T/C] NM_001193285,NM_016539 SIRT6,SIRT6 EXON Missense_V149I,Missense_V149I exm1408260 19 4180801 [T/C] NM_001193285,NM_016539 SIRT6,SIRT6 EXON Missense_A58T,Missense_A58T exm1408275 19 4199923 [A/G] NM_133475 ANKRD24 EXON Missense_N59D exm1408311 19 4207964 [T/C] NM_133475 ANKRD24 EXON Synonymous_S277S exm1408321 19 4210135 [A/G] NM_133475 ANKRD24 EXON Synonymous_P317P exm1408328 19 4210356 [A/G] NM_133475 ANKRD24 EXON Missense_R349Q exm1408331 19 4212493 [T/C] NM_133475 ANKRD24 EXON Missense_H361Y exm1408339 19 4216314 [T/C] NM_133475 ANKRD24 EXON Missense_P435L exm1408343 19 4216338 [T/C] NM_133475 ANKRD24 EXON Missense_S443L exm1408344 19 4216387 [A/G] NM_133475 ANKRD24 EXON Missense_M459I exm1408349 19 4216634 [T/C] NM_133475 ANKRD24 EXON Missense_R493W exm1408357 19 4216829 [A/G] NM_133475 ANKRD24 EXON Missense_G558R exm1408361 19 4216877 [T/G] NM_133475 ANKRD24 EXON Missense_A574S exm1408367 19 4216931 [A/G] NM_133475 ANKRD24 EXON Missense_T592A exm1408373 19 4217001 [A/C] NM_133475 ANKRD24 EXON Missense_E615A exm1408377 19 4217055 [T/C] NM_133475 ANKRD24 EXON Missense_T633M exm1408379 19 4217058 [A/G] NM_133475 ANKRD24 EXON Missense_G634E exm1408383 19 4217123 [A/G] NM_133475 ANKRD24 EXON Missense_G656R exm1408384 19 4217207 [T/G] NM_133475 ANKRD24 EXON Missense_S684A exm2275021 19 4219622 [A/G] NM_133475 ANKRD24 EXON Missense_R1013Q exm1408419 19 4219723 [A/G] NM_133475 ANKRD24 EXON Missense_A1047T exm1408472 19 4233301 [A/G] NM_005755 EBI3 EXON Missense_I126V exm1408482 19 4234786 [T/C] NM_005755 EBI3 EXON Missense_R168C exm1939236 19 4234808 [T/C] NM_005755 EBI3 EXON Missense_A175V exm1939267 19 4236982 [A/G] NM_005755 EBI3 EXON Missense_R196Q exm1408493 19 4236996 [A/G] NM_005755 EBI3 EXON Missense_V201I exm1408500 19 4237060 [G/C] NM_005755 EBI3 EXON Missense_T222S exm1408507 19 4247167 [T/C] NM_018074 CCDC94 EXON Synonymous_N8N exm1408529 19 4254465 [C/G] NM_018074 CCDC94 EXON Missense_E128D exm2272754 19 4256919 [T/G] NM_018074 CCDC94 Silent exm1408538 19 4258384 [A/G] NM_018074 CCDC94 EXON Missense_R184Q exm1408549 19 4262082 [T/C] NM_018074 CCDC94 EXON Missense_R227W exm1408551 19 4267630 [T/C] NM_018074 CCDC94 EXON Missense_P240S exm1408553 19 4267681 [T/C] NM_018074 CCDC94 EXON Missense_R257W exm1408560 19 4268632 [T/C] NM_018074 CCDC94 EXON Missense_A304V exm2229346 19 4280332 [T/C] NM_020209 SHD EXON Missense_A91V exm1408576 19 4283059 [A/G] NM_020209 SHD EXON Missense_G138S exm1408578 19 4283068 [A/G] NM_020209 SHD EXON Missense_V141M exm1408587 19 4284802 [A/C] NM_020209 SHD EXON Missense_E206A exm1408602 19 4288332 [A/G] NM_020209 SHD EXON Missense_N270S exm1408603 19 4288333 [A/C] NM_020209 SHD EXON Missense_N270K exm1408615 19 4290591 [A/T] NM_020209 SHD EXON Missense_H328Q exm1408625 19 4292621 [G/C] NM_144615,NM_001169126 TMIGD2,TMIGD2 EXON Missense_G275A,Missense_G271A exm1408632 19 4292702 [A/G] NM_144615,NM_001169126 TMIGD2,TMIGD2 EXON Missense_P248L,Missense_P244L exm1408640 19 4292759 [A/G] NM_144615,NM_001169126 TMIGD2,TMIGD2 EXON Missense_P229L,Missense_P225L exm1408647 19 4292874 [A/G] NM_144615,NM_001169126 TMIGD2,TMIGD2 EXON Missense_F191L,Missense_F187L exm1408655 19 4294623 [A/C] NM_144615,NM_001169126 TMIGD2,TMIGD2 EXON Missense_W168L,Missense_W168L exm1408665 19 4294790 [A/G] NM_144615,NM_001169126 TMIGD2,TMIGD2 EXON Missense_R144W,Missense_R144W exm1408667 19 4294807 [A/G] NM_144615,NM_001169126 TMIGD2,TMIGD2 EXON Missense_P138L,Missense_P138L exm1408674 19 4298064 [T/C] NM_144615,NM_001169126 TMIGD2,TMIGD2 EXON Missense_A109T,Missense_A109T exm1408675 19 4298067 [T/C] NM_144615,NM_001169126 TMIGD2,TMIGD2 EXON Missense_G108R,Missense_G108R exm1408680 19 4298133 [A/G] NM_144615,NM_001169126 TMIGD2,TMIGD2 EXON Missense_R86W,Missense_R86W exm1940041 19 4298169 [T/C] NM_144615,NM_001169126 TMIGD2,TMIGD2 EXON Missense_G74S,Missense_G74S exm1408685 19 4298198 [A/G] NM_144615,NM_001169126 TMIGD2,TMIGD2 EXON Missense_A64V,Missense_A64V exm1408687 19 4298223 [A/G] NM_144615,NM_001169126 TMIGD2,TMIGD2 EXON Missense_R56C,Missense_R56C exm1408688 19 4298228 [T/C] NM_144615,NM_001169126 TMIGD2,TMIGD2 EXON Missense_R54Q,Missense_R54Q exm1408691 19 4298292 [T/G] NM_144615,NM_001169126 TMIGD2,TMIGD2 EXON Missense_Q33K,Missense_Q33K exm1408709 19 4306196 [T/C] NM_024333 FSD1 EXON Missense_A38V exm1408719 19 4307898 [T/C] NM_024333 FSD1 EXON Missense_T88M exm1408730 19 4310552 [T/C] NM_024333 FSD1 EXON Missense_A150V exm2253866 19 4311942 [T/C] NM_024333 FSD1 EXON Synonymous_Y198Y exm1408741 19 4311977 [T/C] NM_024333 FSD1 EXON Missense_P210L exm1408746 19 4312042 [G/C] NM_024333 FSD1 EXON Missense_L232V exm2275022 19 4323195 [A/G] NM_024333 FSD1 EXON Missense_V418M exm1408773 19 4323369 [A/G] NM_024333 FSD1 EXON Missense_R439H exm1408777 19 4323555 [T/C] NM_024333 FSD1 EXON Missense_T469M exm1408784 19 4324452 [T/C] NM_017720,NM_001013841 STAP2,STAP2 EXON Missense_G429R,Missense_G383R exm2229374 19 4324478 [G/C] NM_017720,NM_001013841 STAP2,STAP2 EXON Nonsense_S420X,Nonsense_S374X exm1408786 19 4324524 [A/G] NM_017720,NM_001013841 STAP2,STAP2 EXON Missense_P405S,Missense_P359S exm1408799 19 4325248 [C/G] NM_017720,NM_001013841 STAP2,STAP2 EXON Missense_A346G,Missense_A346G exm1408802 19 4325297 [A/C] NM_017720,NM_001013841 STAP2,STAP2 EXON Missense_S330A,Missense_S330A exm1940165 19 4325419 [T/G] NM_017720,NM_001013841 STAP2,STAP2 EXON Missense_P318Q,Missense_P318Q exm1408808 19 4325453 [C/G] NM_017720,NM_001013841 STAP2,STAP2 EXON Missense_E307Q,Missense_E307Q exm1940215 19 4327381 [T/C] NM_017720,NM_001013841 STAP2,STAP2 EXON Missense_T198A,Missense_T198A exm1408826 19 4328699 [G/C] NM_017720,NM_001013841 STAP2,STAP2 EXON Missense_S188W,Missense_S188W exm1408827 19 4328703 [C/G] NM_017720,NM_001013841 STAP2,STAP2 EXON Missense_V187L,Missense_V187L exm1408830 19 4328755 [G/C] NM_017720,NM_001013841 STAP2,STAP2 EXON Nonsense_Y169X,Nonsense_Y169X exm1408834 19 4329977 [A/G] NM_017720,NM_001013841 STAP2,STAP2 EXON Missense_R146C,Missense_R146C exm1408843 19 4332024 [T/C] NM_017720,NM_001013841 STAP2,STAP2 EXON Missense_V117M,Missense_V117M exm1408853 19 4338685 [T/A] NM_017720,NM_001013841 STAP2,STAP2 EXON Nonsense_Y22X,Nonsense_Y22X exm1408866 19 4345965 [T/C] NM_032868,NM_001159846 MPND,MPND EXON Missense_T173M,Missense_T173M exm1408874 19 4353024 [T/C] NM_032868,NM_001159846 MPND,MPND EXON Missense_P221L,Missense_P221L exm1408875 19 4353025 [A/G] NM_032868,NM_001159846 MPND,MPND EXON Synonymous_P221P,Synonymous_P221P exm1408876 19 4354080 [T/C] NM_032868,NM_001159846 MPND,MPND EXON Missense_R235W,Missense_R235W exm2229395 19 4355100 [T/C] NM_032868,NM_001159846 MPND,MPND EXON Missense_T309M,Silent exm1408902 19 4357346 [A/G] NM_032868,NM_001159846 MPND,MPND EXON Missense_A365T,Missense_A315T exm1940467 19 4359190 [T/C] NM_032868,NM_001159846 MPND,MPND EXON Missense_P423S,Missense_P403S exm1408915 19 4359191 [T/C] NM_032868,NM_001159846 MPND,MPND EXON Missense_P423L,Missense_P403L exm1408917 19 4359199 [A/G] NM_032868,NM_001159846 MPND,MPND EXON Missense_V426M,Missense_V406M exm1408932 19 4361656 [T/C] NM_003025,NM_001199944,NM_001199943 SH3GL1,SH3GL1,SH3GL1 EXON Missense_G350S,Missense_G286S,Missense_G302S exm1408950 19 4362335 [A/G] NM_003025,NM_001199944,NM_001199943 SH3GL1,SH3GL1,SH3GL1 EXON Missense_R301W,Missense_R237W,Missense_R253W exm1408954 19 4362346 [T/C] NM_003025,NM_001199944,NM_001199943 SH3GL1,SH3GL1,SH3GL1 EXON Missense_R297Q,Missense_R233Q,Missense_R249Q exm1408955 19 4362347 [A/G] NM_003025,NM_001199944,NM_001199943 SH3GL1,SH3GL1,SH3GL1 EXON Missense_R297W,Missense_R233W,Missense_R249W exm1408956 19 4362349 [A/G] NM_003025,NM_001199944,NM_001199943 SH3GL1,SH3GL1,SH3GL1 EXON Missense_I296T,Missense_I232T,Missense_I248T exm1408961 19 4362376 [A/G] NM_003025,NM_001199944,NM_001199943 SH3GL1,SH3GL1,SH3GL1 EXON Missense_S287L,Missense_S223L,Missense_S239L exm1408970 19 4362707 [T/G] NM_003025,NM_001199944,NM_001199943 SH3GL1,SH3GL1,SH3GL1 EXON Missense_K252T,Missense_K188T,Missense_K204T exm1408974 19 4363371 [A/G] NM_003025,NM_001199944,NM_001199943 SH3GL1,SH3GL1,SH3GL1 EXON Missense_R242C,Missense_R178C,Missense_R194C exm1940505 19 4363448 [A/G] NM_003025,NM_001199944,NM_001199943 SH3GL1,SH3GL1,SH3GL1 EXON Missense_S216L,Missense_S152L,Missense_S168L exm2253877 19 4409141 [T/C] NM_005483 CHAF1A EXON Synonymous_V115V exm1409044 19 4409173 [A/G] NM_005483 CHAF1A EXON Missense_Q126R exm1409045 19 4409184 [T/C] NM_005483 CHAF1A EXON Missense_L130F exm1409051 19 4409296 [T/A] NM_005483 CHAF1A EXON Missense_D167V exm1409063 19 4409466 [A/G] NM_005483 CHAF1A EXON Missense_S224G exm1409065 19 4409511 [A/G] NM_005483 CHAF1A EXON Missense_M239V exm1409066 19 4409518 [T/G] NM_005483 CHAF1A EXON Missense_V241G exm1409068 19 4409545 [T/C] NM_005483 CHAF1A EXON Missense_P250L exm1409078 19 4409685 [A/G] NM_005483 CHAF1A EXON Missense_E297K exm1409080 19 4409756 [A/G] NM_005483 CHAF1A EXON Synonymous_R320R exm1409102 19 4428739 [A/G] NM_005483 CHAF1A EXON Missense_A486T exm1409110 19 4429469 [A/G] NM_005483 CHAF1A EXON Missense_G547S exm1409116 19 4429603 [A/G] NM_005483 CHAF1A EXON Synonymous_T591T exm1409138 19 4432123 [A/G] NM_005483 CHAF1A EXON Missense_A708T exm1409151 19 4433145 [A/G] NM_005483 CHAF1A EXON Missense_C761Y exm1409152 19 4433151 [A/G] NM_005483 CHAF1A EXON Missense_R763Q exm1409158 19 4433253 [A/G] NM_005483 CHAF1A EXON Missense_R797Q exm1409166 19 4433412 [A/G] NM_005483 CHAF1A EXON Missense_K850R exm1409168 19 4433439 [T/C] NM_005483 CHAF1A EXON Missense_T859M exm1409171 19 4433466 [T/C] NM_005483 CHAF1A EXON Missense_S868L exm1409191 19 4442978 [A/G] NM_005483 CHAF1A EXON Missense_T943A exm1409193 19 4442999 [T/G] NM_005483 CHAF1A EXON Missense_S950A exm1409197 19 4445541 [G/C] NM_025241,NM_001171091 UBXN6,UBXN6 EXON Missense_S427C,Missense_S374C exm1409201 19 4445559 [A/G] NM_025241,NM_001171091 UBXN6,UBXN6 EXON Missense_A421V,Missense_A368V exm1409204 19 4445581 [T/C] NM_025241,NM_001171091 UBXN6,UBXN6 EXON Missense_V414M,Missense_V361M exm1409205 19 4445583 [C/G] NM_025241,NM_001171091 UBXN6,UBXN6 EXON Missense_A413G,Missense_A360G exm1409208 19 4446062 [A/C] NM_025241,NM_001171091 UBXN6,UBXN6 EXON Missense_L395W,Missense_L342W exm1941155 19 4446164 [A/G] NM_025241,NM_001171091 UBXN6,UBXN6 EXON Missense_A361V,Missense_A308V exm1409222 19 4446346 [A/G] NM_025241,NM_001171091 UBXN6,UBXN6 EXON Missense_R329W,Missense_R276W exm1409223 19 4446358 [T/C] NM_025241,NM_001171091 UBXN6,UBXN6 EXON Missense_K325E,Missense_K272E exm1941161 19 4446402 [A/G] NM_025241,NM_001171091 UBXN6,UBXN6 EXON Missense_A310V,Missense_A257V exm1409232 19 4446512 [G/C] NM_025241,NM_001171091 UBXN6,UBXN6 EXON Missense_R302P,Missense_R249P exm1409243 19 4446615 [T/C] NM_025241,NM_001171091 UBXN6,UBXN6 EXON Missense_A268T,Missense_A215T exm2275024 19 4446617 [T/C] NM_025241,NM_001171091 UBXN6,UBXN6 EXON Missense_R267H,Missense_R214H exm1409246 19 4446621 [T/C] NM_025241,NM_001171091 UBXN6,UBXN6 EXON Missense_V266M,Missense_V213M exm1409252 19 4446680 [G/C] NM_025241,NM_001171091 UBXN6,UBXN6 EXON Missense_T246S,Missense_T193S exm1409263 19 4447600 [C/G] NM_025241,NM_001171091 UBXN6,UBXN6 EXON Missense_H188D,Missense_H135D exm1409285 19 4453475 [T/C] NM_025241,NM_001171091 UBXN6,UBXN6 EXON Missense_E98K,Missense_E45K exm1409293 19 4453969 [A/G] NM_025241,NM_001171091 UBXN6,UBXN6 EXON Missense_R69W,Missense_R16W exm1409300 19 4454041 [A/G] NM_025241,NM_001171091 UBXN6,UBXN6 EXON Missense_R45C,Silent exm1409304 19 4454083 [T/C] NM_025241,NM_001171091 UBXN6,UBXN6 EXON Missense_A31T,Silent exm1409319 19 4475348 [T/C] NM_001001520,NM_032631 HDGFRP2,HDGFRP2 EXON Missense_T50I,Missense_T50I exm1409324 19 4475579 [T/C] NM_001001520,NM_032631 HDGFRP2,HDGFRP2 EXON Missense_P96L,Missense_P96L exm1409327 19 4488718 [A/G] NM_001001520,NM_032631 HDGFRP2,HDGFRP2 EXON Missense_D112N,Missense_D112N exm1409329 19 4488757 [A/G] NM_001001520,NM_032631 HDGFRP2,HDGFRP2 EXON Missense_V125I,Missense_V125I exm1409340 19 4491603 [T/C] NM_001001520,NM_032631 HDGFRP2,HDGFRP2 EXON Missense_L177P,Missense_L177P exm1941587 19 4491642 [T/C] NM_001001520,NM_032631 HDGFRP2,HDGFRP2 EXON Missense_S190L,Missense_S190L exm1409348 19 4491797 [T/C] NM_001001520,NM_032631 HDGFRP2,HDGFRP2 EXON Missense_P215S,Missense_P215S exm1409359 19 4493979 [T/C] NM_001001520,NM_032631 HDGFRP2,HDGFRP2 EXON Missense_A280V,Missense_A280V exm1409361 19 4493990 [T/C] NM_001001520,NM_032631 HDGFRP2,HDGFRP2 EXON Missense_L284F,Missense_L284F exm1409402 19 4499597 [A/G] NM_001001520,NM_032631 HDGFRP2,HDGFRP2 EXON Missense_N562S,Missense_N562S exm1409414 19 4501243 [C/G] NM_001001520,NM_032631 HDGFRP2,HDGFRP2 EXON Missense_K610N,Missense_K610N exm1409419 19 4501328 [A/G] NM_001001520,NM_032631 HDGFRP2,HDGFRP2 EXON Missense_D639N,Missense_D639N exm1409429 19 4504551 [A/G] NM_001080400 PLIN4 EXON Nonsense_Q1332X exm1409433 19 4504595 [A/C] NM_001080400 PLIN4 EXON Missense_V1317G exm1409436 19 4504620 [T/C] NM_001080400 PLIN4 EXON Missense_E1309K exm1409442 19 4504673 [A/G] NM_001080400 PLIN4 EXON Missense_A1291V exm1409449 19 4508817 [A/C] NM_001080400 PLIN4 EXON Missense_R1208M exm1409454 19 4508905 [T/C] NM_001080400 PLIN4 EXON Missense_V1179I exm1409464 19 4510493 [T/C] NM_001080400 PLIN4 EXON Missense_G1146E exm1409465 19 4510529 [T/C] NM_001080400 PLIN4 EXON Missense_R1134H exm1409466 19 4510530 [A/G] NM_001080400 PLIN4 EXON Missense_R1134C exm1409472 19 4510610 [A/G] NM_001080400 PLIN4 EXON Missense_A1107V exm1409492 19 4510850 [A/G] NM_001080400 PLIN4 EXON Missense_A1027V exm1409494 19 4510874 [G/C] NM_001080400 PLIN4 EXON Missense_G1019A exm1409499 19 4510938 [T/C] NM_001080400 PLIN4 EXON Missense_V998I exm1409504 19 4511010 [T/C] NM_001080400 PLIN4 EXON Missense_A974T exm1409508 19 4511066 [A/G] NM_001080400 PLIN4 EXON Missense_T955M exm1409511 19 4511094 [T/C] NM_001080400 PLIN4 EXON Missense_A946T exm1409514 19 4511099 [G/C] NM_001080400 PLIN4 EXON Missense_S944T exm1409526 19 4511181 [T/C] NM_001080400 PLIN4 EXON Missense_V917I exm1409533 19 4511223 [T/C] NM_001080400 PLIN4 EXON Missense_V903M exm1409555 19 4511376 [A/C] NM_001080400 PLIN4 EXON Missense_G852C exm1941751 19 4511460 [T/C] NM_001080400 PLIN4 EXON Missense_G824S exm2229501 19 4511466 [C/G] NM_001080400 PLIN4 EXON Missense_V822L exm1409574 19 4511502 [T/C] NM_001080400 PLIN4 EXON Missense_V810M exm1409575 19 4511504 [A/G] NM_001080400 PLIN4 EXON Missense_T809I exm1409580 19 4511525 [A/G] NM_001080400 PLIN4 EXON Missense_M802T exm1409587 19 4511559 [T/C] NM_001080400 PLIN4 EXON Missense_G791S exm1409600 19 4511601 [T/C] NM_001080400 PLIN4 EXON Missense_V777M exm1409603 19 4511612 [T/G] NM_001080400 PLIN4 EXON Missense_T773N exm1409604 19 4511619 [T/C] NM_001080400 PLIN4 EXON Missense_M771V exm1409664 19 4511913 [T/C] NM_001080400 PLIN4 EXON Missense_D673N exm1409673 19 4511955 [T/C] NM_001080400 PLIN4 EXON Missense_S659G exm1409678 19 4512008 [A/G] NM_001080400 PLIN4 EXON Missense_T641M exm1409685 19 4512048 [T/C] NM_001080400 PLIN4 EXON Missense_V628M exm2229507 19 4512054 [T/C] NM_001080400 PLIN4 EXON Missense_S626G exm1409688 19 4512072 [T/C] NM_001080400 PLIN4 EXON Missense_I620V exm1409697 19 4512126 [T/C] NM_001080400 PLIN4 EXON Missense_V602I exm1409699 19 4512138 [T/C] NM_001080400 PLIN4 EXON Missense_A598T exm1409704 19 4512164 [A/G] NM_001080400 PLIN4 EXON Missense_T589I exm1409720 19 4512258 [A/G] NM_001080400 PLIN4 EXON Missense_L558F exm1941772 19 4512336 [T/C] NM_001080400 PLIN4 EXON Missense_A532T exm1409748 19 4512534 [T/C] NM_001080400 PLIN4 EXON Missense_A466T exm1409753 19 4512567 [A/C] NM_001080400 PLIN4 EXON Missense_V455F exm1409818 19 4512851 [A/G] NM_001080400 PLIN4 EXON Missense_V360A exm1409826 19 4512885 [C/G] NM_001080400 PLIN4 EXON Missense_L349V exm1409829 19 4512890 [A/G] NM_001080400 PLIN4 EXON Missense_T347I exm1409884 19 4513289 [T/C] NM_001080400 PLIN4 EXON Missense_K214R exm1409888 19 4513329 [A/C] NM_001080400 PLIN4 EXON Missense_L201V exm1409893 19 4513413 [T/C] NM_001080400 PLIN4 EXON Missense_V173I exm1941797 19 4513473 [T/C] NM_001080400 PLIN4 EXON Missense_G153S exm1409916 19 4516670 [T/C] NM_001080400 PLIN4 EXON Missense_T58A exm1409925 19 4517649 [T/C] NM_001080400 PLIN4 EXON Missense_N23S exm1409932 19 4523593 [T/C] NM_001013706 PLIN5 EXON Missense_E447K exm1409942 19 4523694 [A/G] NM_001013706 PLIN5 EXON Missense_P413L exm1409987 19 4529086 [A/G] NM_001013706 PLIN5 EXON Synonymous_L173L exm1409988 19 4529099 [A/G] NM_001013706 PLIN5 EXON Missense_T169M exm1409989 19 4529106 [G/C] NM_001013706 PLIN5 EXON Missense_P167A exm1409993 19 4529166 [T/C] NM_001013706 PLIN5 EXON Missense_V147M exm1941958 19 4529184 [T/C] NM_001013706 PLIN5 EXON Missense_V141M exm1409995 19 4529196 [A/G] NM_001013706 PLIN5 EXON Missense_R137W exm1410004 19 4529797 [A/G] NM_001013706 PLIN5 EXON Missense_T113M exm1410006 19 4529803 [A/G] NM_001013706 PLIN5 EXON Missense_S111L exm1410021 19 4534070 [A/G] NM_001013706 PLIN5 EXON Missense_A6V exm1410026 19 4538013 [T/C] NM_052972 LRG1 EXON Missense_R328H exm1410032 19 4538124 [T/C] NM_052972 LRG1 EXON Missense_R291Q exm1410033 19 4538125 [A/G] NM_052972 LRG1 EXON Missense_R291W exm1410034 19 4538161 [A/G] NM_052972 LRG1 EXON Missense_L279F exm1410040 19 4538187 [T/A] NM_052972 LRG1 EXON Missense_N270I exm1410043 19 4538218 [A/G] NM_052972 LRG1 EXON Missense_R260W exm1410049 19 4538295 [A/G] NM_052972 LRG1 EXON Missense_P234L exm1410053 19 4538350 [A/G] NM_052972 LRG1 EXON Missense_R216W exm1410057 19 4538407 [T/C] NM_052972 LRG1 EXON Missense_E197K exm1410059 19 4538472 [T/C] NM_052972 LRG1 EXON Missense_R175H exm1410062 19 4538523 [A/G] NM_052972 LRG1 EXON Missense_S158L exm1410064 19 4538563 [C/G] NM_052972 LRG1 EXON Missense_L145V exm1410066 19 4538588 [G/C] NM_052972 LRG1 EXON Missense_F136L exm1410067 19 4538599 [A/G] NM_052972 LRG1 EXON Missense_P133S exm1410068 19 4538608 [T/C] NM_052972 LRG1 EXON Missense_G130R exm1410084 19 4538806 [T/C] NM_052972 LRG1 EXON Missense_G64S exm2268214 19 4539086 [A/G] NM_052972 LRG1 Silent exm1410096 19 4540003 [T/C] NM_052972 LRG1 EXON Missense_R8Q exm1410097 19 4540004 [A/G] NM_052972 LRG1 EXON Nonsense_R8X exm1410099 19 4540013 [T/G] NM_052972 LRG1 EXON Missense_S5R exm1410132 19 4546231 [T/C] NM_032108 SEMA6B EXON Missense_T579A exm1410149 19 4548066 [G/C] NM_032108 SEMA6B EXON Missense_R525P exm1942180 19 4548088 [T/C] NM_032108 SEMA6B EXON Missense_V518M exm1410158 19 4548369 [T/C] NM_032108 SEMA6B EXON Missense_V454I exm1410173 19 4550183 [A/G] NM_032108 SEMA6B EXON Missense_A408V exm1410174 19 4550187 [T/C] NM_032108 SEMA6B EXON Missense_E407K exm1410185 19 4550812 [A/G] NM_032108 SEMA6B EXON Missense_R374W exm1410186 19 4550817 [T/C] NM_032108 SEMA6B EXON Missense_R372Q exm1410197 19 4550895 [T/G] NM_032108 SEMA6B EXON Missense_A346D exm1410204 19 4552446 [A/G] NM_032108 SEMA6B EXON Missense_T326M exm1410208 19 4552477 [T/C] NM_032108 SEMA6B EXON Missense_G316S exm2253907 19 4640983 [A/G] NM_152362,NM_001167942 TNFAIP8L1,TNFAIP8L1 Silent,Silent exm1410261 19 4652038 [T/C] NM_152362,NM_001167942 TNFAIP8L1,TNFAIP8L1 EXON Missense_R53C,Missense_R53C exm1410268 19 4652354 [T/C] NM_152362,NM_001167942 TNFAIP8L1,TNFAIP8L1 EXON Missense_A158V,Missense_A158V exm1410270 19 4652362 [A/G] NM_152362,NM_001167942 TNFAIP8L1,TNFAIP8L1 EXON Missense_G161S,Missense_G161S exm1410286 19 4660006 [T/C] NM_019107 C19orf10 EXON Missense_A127T exm1410296 19 4664918 [T/G] NM_019107 C19orf10 EXON Missense_D86A exm1410311 19 4670313 [G/C] NM_019107 C19orf10 EXON Missense_G12R exm1410317 19 4679847 [T/C] NM_139159,NM_001242901 DPP9,LOC100131094 EXON Synonymous_Q862Q,Silent exm1410327 19 4682844 [T/C] NM_139159,NM_001242901 DPP9,LOC100131094 EXON Missense_I780V,Silent exm1410357 19 4689616 [A/G] NM_139159 DPP9 EXON Missense_T572M exm1410360 19 4689626 [A/G] NM_139159 DPP9 EXON Missense_R569C exm1410361 19 4689635 [T/C] NM_139159 DPP9 EXON Missense_E566K exm1410370 19 4690960 [T/C] NM_139159 DPP9 EXON Missense_K509R exm1410373 19 4694724 [T/C] NM_139159 DPP9 EXON Missense_V489I exm1410375 19 4694768 [T/C] NM_139159 DPP9 EXON Missense_N474S exm1410379 19 4695485 [C/G] NM_139159 DPP9 EXON Missense_E420Q exm1410380 19 4695515 [A/G] NM_139159 DPP9 EXON Missense_L410F exm1943495 19 4697630 [G/C] NM_139159 DPP9 EXON Missense_P370A exm1410386 19 4702065 [A/G] NM_139159 DPP9 EXON Missense_T329M exm1410395 19 4703922 [A/G] NM_139159 DPP9 EXON Missense_R249W exm1410406 19 4704192 [C/G] NM_139159 DPP9 EXON Missense_A184G exm1410415 19 4714120 [A/G] NM_139159 DPP9 EXON Missense_P96S exm1410417 19 4714134 [A/G] NM_139159 DPP9 EXON Missense_T91M exm1410423 19 4714251 [T/C] NM_139159 DPP9 EXON Missense_R52H exm1410424 19 4714252 [A/G] NM_139159 DPP9 EXON Missense_R52C exm1410426 19 4714275 [A/G] NM_139159 DPP9 EXON Missense_A44V exm1410517 19 4816283 [T/C] NM_182919 TICAM1 EXON Missense_A703T exm1410533 19 4816598 [A/C] NM_182919 TICAM1 EXON Missense_G598W exm1410534 19 4816616 [T/C] NM_182919 TICAM1 EXON Missense_G592R exm1410535 19 4816627 [T/G] NM_182919 TICAM1 EXON Missense_Q588P exm1410537 19 4816688 [T/C] NM_182919 TICAM1 EXON Missense_A568T exm1944158 19 4816712 [A/G] NM_182919 TICAM1 EXON Missense_R560W exm1410540 19 4816721 [T/C] NM_182919 TICAM1 EXON Missense_D557N exm1410548 19 4816829 [T/C] NM_182919 TICAM1 EXON Missense_A521T exm1410561 19 4817144 [T/G] NM_182919 TICAM1 EXON Missense_L416M exm1410583 19 4817657 [T/C] NM_182919 TICAM1 EXON Missense_G245S exm1410586 19 4817672 [A/G] NM_182919 TICAM1 EXON Missense_P240S exm1410588 19 4817690 [A/G] NM_182919 TICAM1 EXON Missense_P234S exm1410589 19 4817693 [C/G] NM_182919 TICAM1 EXON Missense_D233H exm1410597 19 4817833 [A/G] NM_182919 TICAM1 EXON Missense_S186L exm1410599 19 4817852 [A/G] NM_182919 TICAM1 EXON Missense_R180C exm1410607 19 4818026 [T/C] NM_182919 TICAM1 EXON Missense_V122I exm1410608 19 4818059 [T/C] NM_182919 TICAM1 EXON Missense_A111T exm1410614 19 4818152 [T/C] NM_182919 TICAM1 EXON Missense_V80M exm1410615 19 4818167 [A/G] NM_182919 TICAM1 EXON Missense_R75C exm1944174 19 4818211 [C/G] NM_182919 TICAM1 EXON Missense_S60C exm1410624 19 4818295 [A/G] NM_182919 TICAM1 EXON Missense_T32I exm1410628 19 4818379 [A/G] NM_182919 TICAM1 EXON Missense_T4I exm1410635 19 4839274 [A/G] NM_005817,NM_001164189,NM_001164194 PLIN3,PLIN3,PLIN3 EXON Missense_T412I,Missense_T411I,Missense_T400I exm1410642 19 4839331 [T/C] NM_005817,NM_001164189,NM_001164194 PLIN3,PLIN3,PLIN3 EXON Missense_R393H,Missense_R392H,Missense_R381H exm1410654 19 4839514 [A/T] NM_005817,NM_001164189,NM_001164194 PLIN3,PLIN3,PLIN3 EXON Missense_D332V,Missense_D331V,Missense_D320V exm1410665 19 4844790 [C/G] NM_005817,NM_001164189,NM_001164194 PLIN3,PLIN3,PLIN3 EXON Missense_Q284E,Missense_Q284E,Missense_Q272E exm1410668 19 4847713 [A/G] NM_005817,NM_001164189,NM_001164194 PLIN3,PLIN3,PLIN3 EXON Missense_V275A,Missense_V275A,Missense_V263A exm1410674 19 4847828 [T/C] NM_005817,NM_001164189,NM_001164194 PLIN3,PLIN3,PLIN3 EXON Missense_V237I,Missense_V237I,Missense_V225I exm1410681 19 4852061 [T/C] NM_005817,NM_001164189,NM_001164194 PLIN3,PLIN3,PLIN3 EXON Missense_D201N,Missense_D201N,Missense_D189N exm1410691 19 4852151 [T/C] NM_005817,NM_001164189,NM_001164194 PLIN3,PLIN3,PLIN3 EXON Missense_G171S,Missense_G171S,Missense_G159S exm1410707 19 4859631 [T/G] NM_005817,NM_001164189,NM_001164194 PLIN3,PLIN3,PLIN3 EXON Missense_L107I,Missense_L107I,Missense_L107I exm1410710 19 4859663 [A/G] NM_005817,NM_001164189,NM_001164194 PLIN3,PLIN3,PLIN3 EXON Missense_A96V,Missense_A96V,Missense_A96V exm1410720 19 4859937 [T/C] NM_005817,NM_001164189,NM_001164194 PLIN3,PLIN3,PLIN3 EXON Missense_I56V,Missense_I56V,Missense_I56V exm1410721 19 4859964 [A/C] NM_005817,NM_001164189,NM_001164194 PLIN3,PLIN3,PLIN3 EXON Missense_A47S,Missense_A47S,Missense_A47S exm1410729 19 4861355 [T/C] NM_005817,NM_001164189,NM_001164194 PLIN3,PLIN3,PLIN3 EXON Missense_E18K,Missense_E18K,Missense_E18K exm1410735 19 4861397 [T/C] NM_005817,NM_001164189,NM_001164194 PLIN3,PLIN3,PLIN3 EXON Missense_D4N,Missense_D4N,Missense_D4N exm1410741 19 4891207 [T/C] NM_001080523 ARRDC5 EXON Missense_E294K exm1410744 19 4891239 [A/G] NM_001080523 ARRDC5 EXON Missense_T283M exm1410758 19 4891395 [T/C] NM_001080523 ARRDC5 EXON Missense_Q231R exm1410762 19 4891443 [A/G] NM_001080523 ARRDC5 EXON Missense_T215I exm1410769 19 4891537 [A/G] NM_001080523 ARRDC5 EXON Missense_R184C exm1410772 19 4891564 [T/C] NM_001080523 ARRDC5 EXON Missense_E175K exm1410775 19 4896739 [T/C] NM_001080523 ARRDC5 EXON Missense_R149G exm1410778 19 4896784 [T/C] NM_001080523 ARRDC5 EXON Missense_V134I exm1410779 19 4896874 [A/C] NM_001080523 ARRDC5 EXON Missense_A104S exm1410783 19 4902680 [T/C] NM_001080523 ARRDC5 EXON Missense_S67N exm1410786 19 4902722 [A/G] NM_001080523 ARRDC5 EXON Missense_I53T exm1410803 19 4910889 [T/G] NM_001048201,NM_013282 UHRF1,UHRF1 EXON Silent,Missense_A11S exm1410817 19 4929418 [T/C] NM_001048201,NM_013282 UHRF1,UHRF1 EXON Missense_A113V,Missense_A126V exm1410825 19 4930729 [T/C] NM_001048201,NM_013282 UHRF1,UHRF1 EXON Missense_V137A,Missense_V150A exm1410831 19 4930848 [T/G] NM_001048201,NM_013282 UHRF1,UHRF1 EXON Missense_A177S,Missense_A190S exm1410932 19 5041262 [T/C] NM_015015 KDM4B EXON Synonymous_D144D exm1410955 19 5082388 [A/T] NM_015015 KDM4B EXON Missense_E264V exm1410979 19 5110828 [A/C] NM_015015 KDM4B EXON Synonymous_R372R exm1411005 19 5131107 [T/C] NM_015015 KDM4B EXON Missense_R446W exm1411026 19 5131371 [T/C] NM_015015 KDM4B EXON Missense_R534W exm1411033 19 5131435 [T/C] NM_015015 KDM4B EXON Missense_A555V exm1411038 19 5131503 [C/G] NM_015015 KDM4B EXON Missense_A578P exm1411041 19 5131539 [T/C] NM_015015 KDM4B EXON Missense_R590W exm1411071 19 5135392 [A/G] NM_015015 KDM4B EXON Missense_K710E exm1411089 19 5137338 [A/G] NM_015015 KDM4B EXON Missense_A792T exm1411126 19 5144379 [A/G] NM_015015 KDM4B EXON Missense_D953N exm1411141 19 5150405 [T/C] NM_015015 KDM4B EXON Missense_R1020C exm1411146 19 5151356 [T/C] NM_015015 KDM4B EXON Missense_T1042M exm1411154 19 5151452 [A/G] NM_015015 KDM4B EXON Missense_R1074Q exm1411174 19 5208046 [T/C] NM_130855,NM_130853,NM_130854,NM_002850 PTPRS,PTPRS,PTPRS,PTPRS EXON Missense_V1446I,Missense_V1442I,Missense_V1851I,Missense_V1889I exm1411182 19 5208335 [A/G] NM_130855,NM_130853,NM_130854,NM_002850 PTPRS,PTPRS,PTPRS,PTPRS EXON Missense_S1409L,Missense_S1405L,Missense_S1814L,Missense_S1852L exm2253965 19 5210762 [A/G] NM_130855,NM_130853,NM_130854,NM_002850 PTPRS,PTPRS,PTPRS,PTPRS EXON Synonymous_D1320D,Synonymous_D1316D,Synonymous_D1725D,Synonymous_D1763D exm2253966 19 5210795 [T/C] NM_130855,NM_130853,NM_130854,NM_002850 PTPRS,PTPRS,PTPRS,PTPRS EXON Synonymous_A1309A,Synonymous_A1305A,Synonymous_A1714A,Synonymous_A1752A exm1411219 19 5212086 [T/C] NM_130855,NM_130853,NM_130854,NM_002850 PTPRS,PTPRS,PTPRS,PTPRS EXON Missense_V1206M,Missense_V1202M,Missense_V1611M,Missense_V1649M exm1411229 19 5212209 [A/G] NM_130855,NM_130853,NM_130854,NM_002850 PTPRS,PTPRS,PTPRS,PTPRS EXON Missense_R1165W,Missense_R1161W,Missense_R1570W,Missense_R1608W exm1411258 19 5214457 [A/G] NM_130855,NM_130853,NM_130854,NM_002850 PTPRS,PTPRS,PTPRS,PTPRS EXON Missense_T1067M,Missense_T1063M,Missense_T1472M,Missense_T1510M exm2253968 19 5214459 [A/G] NM_130855,NM_130853,NM_130854,NM_002850 PTPRS,PTPRS,PTPRS,PTPRS EXON Synonymous_G1066G,Synonymous_G1062G,Synonymous_G1471G,Synonymous_G1509G exm1411293 19 5215552 [T/C] NM_130855,NM_130853,NM_130854,NM_002850 PTPRS,PTPRS,PTPRS,PTPRS EXON Missense_R941Q,Missense_R937Q,Missense_R1346Q,Missense_R1384Q exm2253969 19 5216747 [T/C] NM_130855,NM_130853,NM_130854,NM_002850 PTPRS,PTPRS,PTPRS,PTPRS EXON Silent,Silent,Silent,Synonymous_P1360P exm1411320 19 5219952 [C/G] NM_130855,NM_130853,NM_130854,NM_002850 PTPRS,PTPRS,PTPRS,PTPRS EXON Missense_P828A,Missense_P824A,Missense_P1233A,Missense_P1255A exm1411321 19 5219970 [T/C] NM_130855,NM_130853,NM_130854,NM_002850 PTPRS,PTPRS,PTPRS,PTPRS EXON Missense_V822M,Missense_V818M,Missense_V1227M,Missense_V1249M exm1411322 19 5219993 [T/C] NM_130855,NM_130853,NM_130854,NM_002850 PTPRS,PTPRS,PTPRS,PTPRS EXON Missense_R814H,Missense_R810H,Missense_R1219H,Missense_R1241H exm1411323 19 5219994 [A/G] NM_130855,NM_130853,NM_130854,NM_002850 PTPRS,PTPRS,PTPRS,PTPRS EXON Missense_R814C,Missense_R810C,Missense_R1219C,Missense_R1241C exm1411337 19 5220134 [T/C] NM_130855,NM_130853,NM_130854,NM_002850 PTPRS,PTPRS,PTPRS,PTPRS EXON Missense_R767H,Missense_R763H,Missense_R1172H,Missense_R1194H exm1411348 19 5221081 [T/C] NM_130855,NM_130853,NM_130854,NM_002850 PTPRS,PTPRS,PTPRS,PTPRS EXON Missense_A702T,Missense_A698T,Missense_A1107T,Missense_A1129T exm1411353 19 5221131 [A/G] NM_130855,NM_130853,NM_130854,NM_002850 PTPRS,PTPRS,PTPRS,PTPRS EXON Missense_T685M,Missense_T681M,Missense_T1090M,Missense_T1112M exm1411355 19 5221206 [A/G] NM_130855,NM_130853,NM_130854,NM_002850 PTPRS,PTPRS,PTPRS,PTPRS EXON Missense_T660M,Missense_T656M,Missense_T1065M,Missense_T1087M exm1411369 19 5222831 [A/G] NM_130855,NM_130853,NM_130854,NM_002850 PTPRS,PTPRS,PTPRS,PTPRS EXON Silent,Silent,Missense_A969V,Missense_A991V exm1411385 19 5223083 [A/G] NM_130855,NM_130853,NM_130854,NM_002850 PTPRS,PTPRS,PTPRS,PTPRS EXON Silent,Silent,Missense_A885V,Missense_A907V exm1411442 19 5239008 [T/C] NM_130855,NM_130853,NM_130854,NM_002850 PTPRS,PTPRS,PTPRS,PTPRS EXON Missense_A582T,Missense_A578T,Missense_A578T,Missense_A591T exm1948587 19 5239055 [A/G] NM_130855,NM_130853,NM_130854,NM_002850 PTPRS,PTPRS,PTPRS,PTPRS EXON Missense_P566L,Missense_P562L,Missense_P562L,Missense_P575L exm1411449 19 5240271 [A/G] NM_130855,NM_130853,NM_130854,NM_002850 PTPRS,PTPRS,PTPRS,PTPRS EXON Missense_P539L,Missense_P535L,Missense_P535L,Missense_P548L exm1411462 19 5244098 [T/C] NM_130855,NM_130853,NM_130854,NM_002850 PTPRS,PTPRS,PTPRS,PTPRS EXON Missense_V453I,Missense_V449I,Missense_V449I,Missense_V462I exm2229925 19 5245796 [T/C] NM_130855,NM_130853,NM_130854,NM_002850 PTPRS,PTPRS,PTPRS,PTPRS EXON Missense_T318A,Missense_T314A,Missense_T314A,Missense_T327A exm2229926 19 5245862 [T/C] NM_130855,NM_130853,NM_130854,NM_002850 PTPRS,PTPRS,PTPRS,PTPRS EXON Missense_D296N,Missense_D292N,Missense_D292N,Missense_D305N exm2272755 19 5270931 [T/C] NM_130855,NM_130853,NM_130854,NM_002850 PTPRS,PTPRS,PTPRS,PTPRS Silent,Silent,Silent,Silent exm1411527 19 5273494 [A/G] NM_130855,NM_130853,NM_130854,NM_002850 PTPRS,PTPRS,PTPRS,PTPRS EXON Missense_V113A,Missense_V113A,Missense_V113A,Missense_V113A exm1411535 19 5273593 [A/G] NM_130855,NM_130853,NM_130854,NM_002850 PTPRS,PTPRS,PTPRS,PTPRS EXON Missense_T80M,Missense_T80M,Missense_T80M,Missense_T80M exm1411544 19 5286072 [T/C] NM_130855,NM_130853,NM_130854,NM_002850 PTPRS,PTPRS,PTPRS,PTPRS EXON Missense_C27Y,Missense_C27Y,Missense_C27Y,Missense_C27Y exm1411552 19 5455515 [T/C] NM_181710 ZNRF4 EXON Missense_R5C exm1411555 19 5455543 [C/G] NM_181710 ZNRF4 EXON Missense_S14T exm1411556 19 5455560 [A/G] NM_181710 ZNRF4 EXON Missense_A20T exm1411557 19 5455561 [T/C] NM_181710 ZNRF4 EXON Missense_A20V exm1411567 19 5455735 [A/G] NM_181710 ZNRF4 EXON Missense_R78Q exm1411569 19 5455800 [A/G] NM_181710 ZNRF4 EXON Missense_V100I exm1411570 19 5455804 [A/G] NM_181710 ZNRF4 EXON Missense_R101Q exm1411577 19 5455890 [C/G] NM_181710 ZNRF4 EXON Missense_R130G exm1411578 19 5455903 [T/C] NM_181710 ZNRF4 EXON Missense_M134T exm1411589 19 5455978 [T/C] NM_181710 ZNRF4 EXON Missense_V159A exm1411591 19 5455990 [A/G] NM_181710 ZNRF4 EXON Missense_R163H exm1411598 19 5456037 [A/G] NM_181710 ZNRF4 EXON Missense_G179S exm2253997 19 5456048 [A/G] NM_181710 ZNRF4 EXON Synonymous_A182A exm1411599 19 5456048 [A/G] NM_181710 ZNRF4 EXON Synonymous_A182A exm1411601 19 5456076 [A/G] NM_181710 ZNRF4 EXON Missense_D192N exm1411604 19 5456142 [A/G] NM_181710 ZNRF4 EXON Missense_V214M exm1411612 19 5456203 [T/C] NM_181710 ZNRF4 EXON Missense_A234V exm1411616 19 5456253 [A/G] NM_181710 ZNRF4 EXON Missense_V251M exm1411618 19 5456298 [A/G] NM_181710 ZNRF4 EXON Missense_V266I exm1411621 19 5456401 [A/G] NM_181710 ZNRF4 EXON Missense_R300H exm1411673 19 5587340 [T/C] NM_014649 SAFB2 EXON Missense_G926R exm1411679 19 5587728 [A/G] NM_014649 SAFB2 EXON Missense_R897C exm1411681 19 5587748 [T/C] NM_014649 SAFB2 EXON Missense_G890E exm1411704 19 5590371 [T/C] NM_014649 SAFB2 EXON Missense_G815S exm1411719 19 5592840 [A/C] NM_014649 SAFB2 EXON Missense_A756S exm1411723 19 5592884 [T/G] NM_014649 SAFB2 EXON Missense_Y741S exm1411764 19 5604875 [T/C] NM_014649 SAFB2 EXON Missense_T457A exm1411777 19 5610104 [A/G] NM_014649 SAFB2 EXON Missense_R400W exm1411779 19 5610676 [A/G] NM_014649 SAFB2 EXON Missense_I390T exm1411800 19 5616226 [A/C] NM_014649 SAFB2 EXON Missense_G154C exm1411802 19 5616231 [A/G] NM_014649 SAFB2 EXON Missense_T152M exm1411832 19 5626479 [A/G] NM_001201339,NM_002967,NR_037699,NM_001201340,NM_001201338 SAFB,SAFB,SAFB,SAFB,SAFB EXON Missense_T85A,Missense_T85A,Silent,Missense_T85A,Missense_T85A exm1411839 19 5641862 [A/G] NM_001201339,NM_002967,NR_037699,NM_001201340,NM_001201338 SAFB,SAFB,SAFB,SAFB,SAFB EXON Missense_D151N,Missense_D151N,Silent,Silent,Missense_D151N exm1411845 19 5645377 [A/T] NM_001201339,NM_002967,NR_037699,NM_001201340,NM_001201338 SAFB,SAFB,SAFB,SAFB,SAFB EXON Missense_L192F,Missense_L192F,Silent,Missense_L123F,Missense_L192F exm1411866 19 5654110 [A/C] NM_001201339,NM_002967,NR_037699,NM_001201340,NM_001201338 SAFB,SAFB,SAFB,SAFB,SAFB EXON Missense_K522T,Missense_K522T,Silent,Missense_K453T,Missense_K522T exm1411883 19 5657253 [T/C] NM_001201339,NM_002967,NR_037699,NM_001201340,NM_001201338 SAFB,SAFB,SAFB,SAFB,SAFB EXON Missense_A586V,Missense_A586V,Silent,Missense_A517V,Missense_A586V exm1411905 19 5664142 [A/G] NM_001201339,NM_002967,NR_037699,NM_001201340,NM_001201338 SAFB,SAFB,SAFB,SAFB,SAFB EXON Missense_G754S,Missense_G755S,Silent,Missense_G686S,Missense_G755S exm1411908 19 5664163 [A/G] NM_001201339,NM_002967,NR_037699,NM_001201340,NM_001201338 SAFB,SAFB,SAFB,SAFB,SAFB EXON Missense_V761M,Missense_V762M,Silent,Missense_V693M,Missense_V762M exm1411946 19 5679656 [G/C] NM_205767 C19orf70 EXON Missense_P50A exm1411972 19 5687302 [A/G] NM_198704,NM_001267871,NM_001267870,NM_001267868,NM_198705,NM_198708,NM_198706,NM_001267869,NM_198707,NM_198533 HSD11B1L,HSD11B1L,HSD11B1L,HSD11B1L,HSD11B1L,HSD11B1L,HSD11B1L,HSD11B1L,HSD11B1L,HSD11B1L EXON Missense_V6M,Missense_V59M,Missense_C28Y,Missense_V187M,Missense_V59M,Missense_V6M,Missense_V140M,Missense_V6M,Missense_V53M,Missense_V140M exm1411978 19 5687516 [T/C] NM_198704,NM_001267871,NM_001267870,NM_001267868,NM_198705,NM_198708,NM_198706,NM_001267869,NM_198707,NM_198533 HSD11B1L,HSD11B1L,HSD11B1L,HSD11B1L,HSD11B1L,HSD11B1L,HSD11B1L,HSD11B1L,HSD11B1L,HSD11B1L EXON Missense_R35C,Missense_R88C,Missense_P57L,Missense_R216C,Missense_R88C,Missense_R35C,Missense_R169C,Missense_R35C,Missense_R82C,Missense_R169C exm1412000 19 5687901 [C/G] NM_198704,NM_001267871,NM_001267870,NM_001267868,NM_198705,NM_198708,NM_198706,NM_001267869,NM_198707,NM_198533 HSD11B1L,HSD11B1L,HSD11B1L,HSD11B1L,HSD11B1L,HSD11B1L,HSD11B1L,HSD11B1L,HSD11B1L,HSD11B1L EXON Silent,Silent,Synonymous_A157A,Missense_R316P,Missense_R188P,Missense_R135P,Missense_R269P,Missense_R135P,Missense_R182P,Silent exm1412033 19 5692087 [T/C] NM_001276480,NM_004793,NR_076392,NM_001276479 LONP1,LONP1,LONP1,LONP1 EXON Missense_A750T,Missense_A946T,Silent,Missense_A882T exm1412043 19 5692212 [T/C] NM_001276480,NM_004793,NR_076392,NM_001276479 LONP1,LONP1,LONP1,LONP1 EXON Missense_R708H,Missense_R904H,Silent,Missense_R840H exm1412050 19 5693470 [T/C] NM_001276480,NM_004793,NR_076392,NM_001276479 LONP1,LONP1,LONP1,LONP1 EXON Missense_A652T,Missense_A848T,Silent,Missense_A784T exm1412057 19 5693616 [T/C] NM_001276480,NM_004793,NR_076392,NM_001276479 LONP1,LONP1,LONP1,LONP1 EXON Missense_A633T,Missense_A829T,Silent,Missense_A765T exm1412060 19 5693630 [A/C] NM_001276480,NM_004793,NR_076392,NM_001276479 LONP1,LONP1,LONP1,LONP1 EXON Missense_F628C,Missense_F824C,Silent,Missense_F760C exm1952606 19 5693709 [T/C] NM_001276480,NM_004793,NR_076392,NM_001276479 LONP1,LONP1,LONP1,LONP1 EXON Missense_G602S,Missense_G798S,Silent,Missense_G734S exm1412073 19 5694443 [T/C] NM_001276480,NM_004793,NR_076392,NM_001276479 LONP1,LONP1,LONP1,LONP1 EXON Missense_V563M,Missense_V759M,Silent,Missense_V695M exm1412088 19 5694813 [A/G] NM_001276480,NM_004793,NR_076392,NM_001276479 LONP1,LONP1,LONP1,LONP1 EXON Missense_R509C,Missense_R705C,Silent,Missense_R641C exm1412097 19 5694911 [T/C] NM_001276480,NM_004793,NR_076392,NM_001276479 LONP1,LONP1,LONP1,LONP1 EXON Missense_R476H,Missense_R672H,Silent,Missense_R608H exm1412098 19 5696093 [A/C] NM_001276480,NM_004793,NR_076392,NM_001276479 LONP1,LONP1,LONP1,LONP1 EXON Missense_V466G,Missense_V662G,Silent,Missense_V598G exm2230232 19 5696094 [T/C] NM_001276480,NM_004793,NR_076392,NM_001276479 LONP1,LONP1,LONP1,LONP1 EXON Missense_V466M,Missense_V662M,Silent,Missense_V598M exm1412102 19 5696148 [T/C] NM_001276480,NM_004793,NR_076392,NM_001276479 LONP1,LONP1,LONP1,LONP1 EXON Missense_T448A,Missense_T644A,Silent,Missense_T580A exm1412104 19 5696157 [T/C] NM_001276480,NM_004793,NR_076392,NM_001276479 LONP1,LONP1,LONP1,LONP1 EXON Missense_V445I,Missense_V641I,Silent,Missense_V577I exm1412110 19 5696280 [T/C] NM_001276480,NM_004793,NR_076392,NM_001276479 LONP1,LONP1,LONP1,LONP1 EXON Missense_V430M,Missense_V626M,Silent,Missense_V562M exm1412113 19 5696339 [A/G] NM_001276480,NM_004793,NR_076392,NM_001276479 LONP1,LONP1,LONP1,LONP1 EXON Missense_A410V,Missense_A606V,Silent,Missense_A542V exm1952647 19 5696718 [T/G] NM_001276480,NM_004793,NR_076392,NM_001276479 LONP1,LONP1,LONP1,LONP1 EXON Missense_K383T,Missense_K579T,Silent,Missense_K515T exm1412140 19 5699110 [T/C] NM_001276480,NM_004793,NR_076392,NM_001276479 LONP1,LONP1,LONP1,LONP1 EXON Missense_R342H,Missense_R538H,Silent,Missense_R474H exm1412141 19 5699111 [A/G] NM_001276480,NM_004793,NR_076392,NM_001276479 LONP1,LONP1,LONP1,LONP1 EXON Missense_R342C,Missense_R538C,Silent,Missense_R474C exm1412143 19 5699123 [A/G] NM_001276480,NM_004793,NR_076392,NM_001276479 LONP1,LONP1,LONP1,LONP1 EXON Missense_R338C,Missense_R534C,Silent,Missense_R470C exm1412149 19 5699204 [T/C] NM_001276480,NM_004793,NR_076392,NM_001276479 LONP1,LONP1,LONP1,LONP1 EXON Missense_V311I,Missense_V507I,Silent,Missense_V443I exm1412155 19 5700817 [T/C] NM_001276480,NM_004793,NR_076392,NM_001276479 LONP1,LONP1,LONP1,LONP1 EXON Missense_V301I,Missense_V497I,Silent,Missense_V433I exm1412167 19 5705827 [T/C] NM_001276480,NM_004793,NR_076392,NM_001276479 LONP1,LONP1,LONP1,LONP1 EXON Synonymous_E245E,Synonymous_E441E,Silent,Synonymous_E377E exm2254043 19 5705827 [T/C] NM_001276480,NM_004793,NR_076392,NM_001276479 LONP1,LONP1,LONP1,LONP1 EXON Synonymous_E245E,Synonymous_E441E,Silent,Synonymous_E377E exm1412170 19 5705841 [T/C] NM_001276480,NM_004793,NR_076392,NM_001276479 LONP1,LONP1,LONP1,LONP1 EXON Missense_V241I,Missense_V437I,Silent,Missense_V373I exm1412199 19 5711864 [A/G] NM_001276480,NM_004793,NR_076392,NM_001276479 LONP1,LONP1,LONP1,LONP1 EXON Missense_T67I,Missense_T263I,Silent,Missense_T199I exm1412201 19 5711885 [A/G] NM_001276480,NM_004793,NR_076392,NM_001276479 LONP1,LONP1,LONP1,LONP1 EXON Missense_A60V,Missense_A256V,Silent,Missense_A192V exm2275025 19 5711907 [C/G] NM_001276480,NM_004793,NR_076392,NM_001276479 LONP1,LONP1,LONP1,LONP1 EXON Missense_E53Q,Missense_E249Q,Silent,Missense_E185Q exm1412203 19 5711910 [T/C] NM_001276480,NM_004793,NR_076392,NM_001276479 LONP1,LONP1,LONP1,LONP1 EXON Missense_D52N,Missense_D248N,Silent,Missense_D184N exm1412204 19 5711930 [T/C] NM_001276480,NM_004793,NR_076392,NM_001276479 LONP1,LONP1,LONP1,LONP1 EXON Missense_R45Q,Missense_R241Q,Silent,Missense_R177Q exm1412207 19 5711966 [A/G] NM_001276480,NM_004793,NR_076392,NM_001276479 LONP1,LONP1,LONP1,LONP1 EXON Missense_A33V,Missense_A229V,Silent,Missense_A165V exm1412211 19 5711996 [T/A] NM_001276480,NM_004793,NR_076392,NM_001276479 LONP1,LONP1,LONP1,LONP1 EXON Missense_Q23L,Missense_Q219L,Silent,Missense_Q155L exm1412213 19 5713169 [T/C] NM_001276480,NM_004793,NR_076392,NM_001276479 LONP1,LONP1,LONP1,LONP1 EXON Missense_R9H,Missense_R205H,Silent,Missense_R141H exm1412216 19 5713220 [A/G] NM_001276480,NM_004793,NR_076392,NM_001276479 LONP1,LONP1,LONP1,LONP1 EXON Silent,Missense_T188M,Silent,Missense_T124M exm1412220 19 5713256 [A/G] NM_001276480,NM_004793,NR_076392,NM_001276479 LONP1,LONP1,LONP1,LONP1 EXON Silent,Missense_S176L,Silent,Missense_S112L exm1412223 19 5714234 [T/C] NM_001276480,NM_004793,NR_076392,NM_001276479 LONP1,LONP1,LONP1,LONP1 EXON Silent,Missense_A160T,Silent,Missense_A96T exm1412250 19 5720819 [A/G] NM_152784 CATSPERD EXON Missense_R24H exm1412252 19 5724823 [T/C] NM_152784 CATSPERD EXON Missense_R26C exm1412253 19 5724869 [A/G] NM_152784 CATSPERD EXON Missense_Q41R exm1412255 19 5727283 [A/G] NM_152784 CATSPERD EXON Missense_R44H exm1412256 19 5727309 [T/C] NM_152784 CATSPERD EXON Missense_R53C exm1412259 19 5733870 [A/G] NM_152784 CATSPERD EXON Missense_G94S exm1412261 19 5733874 [T/C] NM_152784 CATSPERD EXON Missense_V95A exm1412265 19 5733931 [A/C] NM_152784 CATSPERD EXON Missense_Q114P exm1412274 19 5739337 [T/C] NM_152784 CATSPERD EXON Missense_H154Y exm1412275 19 5739349 [A/T] NM_152784 CATSPERD EXON Missense_L158M exm1412278 19 5739368 [A/G] NM_152784 CATSPERD EXON Missense_R164H exm1412281 19 5744499 [T/C] NM_152784 CATSPERD EXON Missense_M212T exm1412285 19 5745966 [A/G] NM_152784 CATSPERD EXON Missense_G234R exm1412288 19 5746024 [G/C] NM_152784 CATSPERD EXON Missense_G253A exm1412296 19 5748257 [A/G] NM_152784 CATSPERD EXON Missense_I299V exm1412302 19 5749171 [A/G] NM_152784 CATSPERD EXON Missense_I322V exm1412305 19 5751661 [T/G] NM_152784 CATSPERD EXON Missense_A331S exm1412308 19 5751687 [C/G] NM_152784 CATSPERD EXON Missense_D339E exm1412313 19 5751781 [A/G] NM_152784 CATSPERD EXON Missense_V371M exm1412315 19 5751802 [A/G] NM_152784 CATSPERD EXON Missense_M378V exm1952924 19 5751803 [T/C] NM_152784 CATSPERD EXON Missense_M378T exm1412323 19 5754227 [T/C] NM_152784 CATSPERD EXON Missense_P417S exm1412324 19 5754231 [A/G] NM_152784 CATSPERD EXON Missense_Q418R exm1412337 19 5766112 [A/C] NM_152784 CATSPERD Silent exm1412346 19 5770965 [A/G] NM_152784 CATSPERD EXON Missense_D549N exm1953015 19 5770971 [A/G] NM_152784 CATSPERD EXON Missense_G551S exm1412358 19 5771084 [A/G] NM_152784 CATSPERD Silent exm1412369 19 5772823 [C/G] NM_152784 CATSPERD EXON Missense_E596D exm1412371 19 5772833 [A/G] NM_152784 CATSPERD EXON Missense_A600T exm1412380 19 5772897 [T/C] NM_152784 CATSPERD EXON Missense_S621L exm1412386 19 5772950 [A/G] NM_152784 CATSPERD EXON Missense_G639R exm1412393 19 5776274 [A/G] NM_152784 CATSPERD EXON Missense_G682S exm2268215 19 5777323 [A/G] NM_152784 CATSPERD Silent exm1412404 19 5778517 [A/T] NM_152784 CATSPERD EXON Missense_T743S exm1412405 19 5778533 [A/G] NM_152784 CATSPERD EXON Missense_R748H exm1412406 19 5778547 [T/C] NM_152784 CATSPERD EXON Missense_R753C exm1412407 19 5778554 [T/C] NM_152784 CATSPERD EXON Missense_I755T exm1412431 19 5783062 [A/G] NM_001134316 PRR22 EXON Missense_A399V exm1412465 19 5783567 [T/C] NM_001134316 PRR22 EXON Missense_V231I exm1412468 19 5783614 [T/A] NM_001134316 PRR22 EXON Missense_Q215L exm1412476 19 5783695 [T/G] NM_001134316 PRR22 EXON Missense_P188H exm1412488 19 5784025 [T/C] NM_001134316 PRR22 EXON Missense_R78H exm1412506 19 5785449 [T/C] NM_001161619,NM_020175 DUS3L,DUS3L EXON Missense_D367N,Missense_D609N exm1412521 19 5785773 [A/G] NM_001161619,NM_020175 DUS3L,DUS3L EXON Missense_T289M,Missense_T531M exm1412527 19 5786515 [T/C] NM_001161619,NM_020175 DUS3L,DUS3L EXON Missense_A267T,Missense_A509T exm1412529 19 5786517 [T/C] NM_001161619,NM_020175 DUS3L,DUS3L EXON Missense_R266H,Missense_R508H exm1412534 19 5786760 [T/C] NM_001161619,NM_020175 DUS3L,DUS3L EXON Missense_G254R,Missense_G496R exm1412535 19 5786768 [A/G] NM_001161619,NM_020175 DUS3L,DUS3L EXON Missense_P251L,Missense_P493L exm1412539 19 5786799 [T/C] NM_001161619,NM_020175 DUS3L,DUS3L EXON Missense_E241K,Missense_E483K exm1412550 19 5787104 [T/C] NM_001161619,NM_020175 DUS3L,DUS3L EXON Missense_E211K,Missense_E453K exm1412582 19 5788099 [T/C] NM_001161619,NM_020175 DUS3L,DUS3L EXON Missense_Q102R,Missense_Q344R exm1412604 19 5789388 [A/C] NM_001161619,NM_020175 DUS3L,DUS3L EXON Silent,Missense_A244S exm1412623 19 5790120 [T/C] NM_001161619,NM_020175 DUS3L,DUS3L EXON Silent,Missense_G109S exm1412626 19 5790216 [C/G] NM_001161619,NM_020175 DUS3L,DUS3L EXON Silent,Missense_L77V exm1412632 19 5790284 [T/C] NM_001161619,NM_020175 DUS3L,DUS3L EXON Missense_C54Y,Missense_C54Y exm1412634 19 5791071 [T/C] NM_001161619,NM_020175 DUS3L,DUS3L EXON Missense_A28T,Missense_A28T exm1412642 19 5824196 [T/C] NM_004558 NRTN EXON Missense_A7V exm1412650 19 5824334 [T/G] NM_004558 NRTN EXON Missense_R53L exm1412666 19 5831515 [T/G] NM_001040701,NM_000150 FUT6,FUT6 EXON Missense_A355E,Missense_A355E exm1412668 19 5831525 [A/G] NM_001040701,NM_000150 FUT6,FUT6 EXON Missense_R352C,Missense_R352C exm1412726 19 5832190 [T/C] NM_001040701,NM_000150 FUT6,FUT6 EXON Missense_R130Q,Missense_R130Q exm1412729 19 5832215 [A/G] NM_001040701,NM_000150 FUT6,FUT6 EXON Missense_R122C,Missense_R122C exm1412733 19 5832268 [C/G] NM_001040701,NM_000150 FUT6,FUT6 EXON Missense_A104G,Missense_A104G exm1412743 19 5832461 [T/C] NM_001040701,NM_000150 FUT6,FUT6 EXON Missense_D40N,Missense_D40N exm1412745 19 5832475 [T/C] NM_001040701,NM_000150 FUT6,FUT6 EXON Missense_R35H,Missense_R35H exm-rs3760776 19 5839746 [A/G] exm1412805 19 5844400 [T/C] NM_001097639,NM_001097640,NM_001097641,NM_000149 FUT3,FUT3,FUT3,FUT3 EXON Missense_R151G,Missense_R151G,Missense_R151G,Missense_R151G exm1412808 19 5844420 [T/C] NM_001097639,NM_001097640,NM_001097641,NM_000149 FUT3,FUT3,FUT3,FUT3 EXON Missense_Q144R,Missense_Q144R,Missense_Q144R,Missense_Q144R exm1412816 19 5844537 [A/G] NM_001097639,NM_001097640,NM_001097641,NM_000149 FUT3,FUT3,FUT3,FUT3 EXON Missense_M105T,Missense_M105T,Missense_M105T,Missense_M105T exm1412818 19 5844547 [T/G] NM_001097639,NM_001097640,NM_001097641,NM_000149 FUT3,FUT3,FUT3,FUT3 EXON Missense_Q102K,Missense_Q102K,Missense_Q102K,Missense_Q102K exm1412822 19 5844612 [T/C] NM_001097639,NM_001097640,NM_001097641,NM_000149 FUT3,FUT3,FUT3,FUT3 EXON Missense_R80H,Missense_R80H,Missense_R80H,Missense_R80H exm1412823 19 5844613 [A/G] NM_001097639,NM_001097640,NM_001097641,NM_000149 FUT3,FUT3,FUT3,FUT3 EXON Missense_R80C,Missense_R80C,Missense_R80C,Missense_R80C exm1412826 19 5844649 [A/G] NM_001097639,NM_001097640,NM_001097641,NM_000149 FUT3,FUT3,FUT3,FUT3 EXON Missense_R68W,Missense_R68W,Missense_R68W,Missense_R68W exm1412839 19 5844792 [A/C] NM_001097639,NM_001097640,NM_001097641,NM_000149 FUT3,FUT3,FUT3,FUT3 EXON Missense_L20R,Missense_L20R,Missense_L20R,Missense_L20R exm1412840 19 5844796 [T/C] NM_001097639,NM_001097640,NM_001097641,NM_000149 FUT3,FUT3,FUT3,FUT3 EXON Missense_A19T,Missense_A19T,Missense_A19T,Missense_A19T exm1412846 19 5844838 [T/C] NM_001097639,NM_001097640,NM_001097641,NM_000149 FUT3,FUT3,FUT3,FUT3 EXON Missense_G5S,Missense_G5S,Missense_G5S,Missense_G5S exm1412902 19 5867247 [T/C] NM_002034 FUT5 EXON Missense_G164R exm1412910 19 5867393 [T/C] NM_002034 FUT5 EXON Missense_Q115R exm1412915 19 5867459 [T/C] NM_002034 FUT5 EXON Missense_R93H exm1412917 19 5867472 [T/C] NM_002034 FUT5 EXON Missense_V89M exm1412919 19 5867492 [A/G] NM_002034 FUT5 EXON Missense_T82M exm1412931 19 5867621 [T/C] NM_002034 FUT5 EXON Missense_D39G exm1412932 19 5867624 [T/C] NM_002034 FUT5 EXON Missense_R38Q exm1412940 19 5867748 [T/G] NM_002034 FUT5 EXON Silent exm1412956 19 5896466 [A/C] NM_001193375,NM_175614,NR_034166 NDUFA11,NDUFA11,NDUFA11 EXON Missense_R104L,Missense_R104L,Silent exm1412972 19 5903661 [T/C] NM_001193375,NM_175614,NR_034166 NDUFA11,NDUFA11,NDUFA11 EXON Missense_R20H,Missense_R20H,Silent exm1412994 19 5908969 [A/G] NM_001017921 VMAC EXON Missense_R109H exm1413005 19 5914452 [A/G] NM_080590,NM_004058 CAPS,CAPS EXON Missense_R12Q,Missense_R12Q exm1413007 19 5914467 [A/C] NM_080590,NM_004058 CAPS,CAPS EXON Missense_S17Y,Missense_S17Y exm1413008 19 5914470 [A/G] NM_080590,NM_004058 CAPS,CAPS EXON Missense_R18H,Missense_R18H exm1413022 19 5914629 [T/C] NM_080590,NM_004058 CAPS,CAPS EXON Missense_R47W,Missense_R47W exm1413023 19 5914650 [A/G] NM_080590,NM_004058 CAPS,CAPS EXON Missense_G54R,Missense_G54R exm1413033 19 5914740 [T/C] NM_080590,NM_004058 CAPS,CAPS EXON Missense_R84W,Missense_R84W exm1413038 19 5914951 [A/C] NM_080590,NM_004058 CAPS,CAPS EXON Missense_P88T,Missense_P88T exm1413045 19 5915026 [A/G] NM_080590,NM_004058 CAPS,CAPS EXON Missense_V113M,Missense_V113M exm1413053 19 5915098 [A/G] NM_080590,NM_004058 CAPS,CAPS EXON Silent,Missense_E137K exm1413069 19 5915300 [A/C] NM_080590,NM_004058 CAPS,CAPS EXON Missense_F152L,Missense_F179L exm1413098 19 5923888 [T/C] NM_007320,NM_007322,NM_003624 RANBP3,RANBP3,RANBP3 EXON Missense_N277S,Missense_N345S,Missense_N340S exm1413099 19 5923895 [C/G] NM_007320,NM_007322,NM_003624 RANBP3,RANBP3,RANBP3 EXON Missense_D275H,Missense_D343H,Missense_D338H exm1413102 19 5924893 [A/G] NM_007320,NM_007322,NM_003624 RANBP3,RANBP3,RANBP3 EXON Missense_A246V,Missense_A314V,Missense_A309V exm2230379 19 5925687 [A/G] NM_007320,NM_007322,NM_003624 RANBP3,RANBP3,RANBP3 EXON Missense_T224M,Missense_T292M,Missense_T287M exm1413106 19 5925689 [T/G] NM_007320,NM_007322,NM_003624 RANBP3,RANBP3,RANBP3 EXON Missense_D223E,Missense_D291E,Missense_D286E exm1413107 19 5925703 [A/G] NM_007320,NM_007322,NM_003624 RANBP3,RANBP3,RANBP3 EXON Missense_H219Y,Missense_H287Y,Missense_H282Y exm1413108 19 5925721 [T/C] NM_007320,NM_007322,NM_003624 RANBP3,RANBP3,RANBP3 EXON Missense_D213N,Missense_D281N,Missense_D276N exm1413110 19 5925733 [T/C] NM_007320,NM_007322,NM_003624 RANBP3,RANBP3,RANBP3 EXON Missense_V209M,Missense_V277M,Missense_V272M exm1413112 19 5925739 [T/C] NM_007320,NM_007322,NM_003624 RANBP3,RANBP3,RANBP3 EXON Missense_E207K,Missense_E275K,Missense_E270K exm1413113 19 5928029 [T/C] NM_007320,NM_007322,NM_003624 RANBP3,RANBP3,RANBP3 EXON Missense_A187T,Missense_A255T,Missense_A250T exm1413142 19 5951448 [T/C] NM_007320,NM_007322,NM_003624 RANBP3,RANBP3,RANBP3 EXON Silent,Missense_A80T,Missense_A80T exm1954470 19 5994913 [A/C] NR_046376,NM_000635,NM_134433 LOC100128568,RFX2,RFX2 EXON Silent,Missense_R702L,Missense_R677L exm1413161 19 5994932 [T/C] NR_046376,NM_000635,NM_134433 LOC100128568,RFX2,RFX2 EXON Silent,Missense_E696K,Missense_E671K exm2254074 19 5995450 [T/C] NR_046376,NM_000635,NM_134433 LOC100128568,RFX2,RFX2 Silent,Silent,Silent exm1413180 19 6001884 [T/C] NR_046376,NM_000635,NM_134433 LOC100128568,RFX2,RFX2 EXON Silent,Missense_G601S,Missense_G576S exm1413187 19 6002790 [A/G] NR_046376,NM_000635,NM_134433 LOC100128568,RFX2,RFX2 EXON Silent,Missense_T531M,Missense_T506M exm1413189 19 6002808 [T/C] NR_046376,NM_000635,NM_134433 LOC100128568,RFX2,RFX2 EXON Silent,Missense_R525Q,Missense_R500Q exm1413207 19 6007155 [T/C] NR_046376,NM_000635,NM_134433 LOC100128568,RFX2,RFX2 EXON Silent,Missense_V424I,Missense_V399I exm2254075 19 6007724 [A/G] NR_046376,NM_000635,NM_134433 LOC100128568,RFX2,RFX2 EXON Silent,Synonymous_D408D,Synonymous_D383D exm1954495 19 6007726 [C/G] NR_046376,NM_000635,NM_134433 LOC100128568,RFX2,RFX2 EXON Silent,Missense_D408H,Missense_D383H exm1413217 19 6008173 [T/C] NR_046376,NM_000635,NM_134433 LOC100128568,RFX2,RFX2 EXON Silent,Missense_G360S,Missense_G335S exm1413219 19 6008188 [A/C] NR_046376,NM_000635,NM_134433 LOC100128568,RFX2,RFX2 EXON Silent,Missense_F355V,Missense_F330V exm1413220 19 6008200 [T/C] NR_046376,NM_000635,NM_134433 LOC100128568,RFX2,RFX2 EXON Silent,Missense_D351N,Missense_D326N exm1413222 19 6010177 [T/C] NR_046376,NM_000635,NM_134433 LOC100128568,RFX2,RFX2 EXON Silent,Missense_V329M,Missense_V304M exm1413230 19 6013084 [T/C] NR_046376,NM_000635,NM_134433 LOC100128568,RFX2,RFX2 EXON Silent,Missense_R271H,Missense_R246H exm1413238 19 6016270 [A/C] NR_046376,NM_000635,NM_134433 LOC100128568,RFX2,RFX2 EXON Silent,Missense_L204V,Missense_L179V exm1413241 19 6026209 [T/C] NM_000635,NM_134433 RFX2,RFX2 EXON Missense_I188V,Silent exm2254076 19 6040000 [T/C] NM_000635,NM_134433 RFX2,RFX2 EXON Synonymous_S171S,Synonymous_S171S exm1413246 19 6040046 [A/C] NM_000635,NM_134433 RFX2,RFX2 EXON Missense_G156V,Missense_G156V exm1413252 19 6040080 [T/C] NM_000635,NM_134433 RFX2,RFX2 EXON Missense_V145I,Missense_V145I exm1413261 19 6040160 [A/G] NM_000635,NM_134433 RFX2,RFX2 EXON Missense_T118I,Missense_T118I exm1413267 19 6042059 [T/C] NM_000635,NM_134433 RFX2,RFX2 EXON Missense_A86T,Missense_A86T exm1413268 19 6042074 [T/C] NM_000635,NM_134433 RFX2,RFX2 EXON Missense_V81I,Missense_V81I exm1413280 19 6047458 [T/C] NM_000635,NM_134433 RFX2,RFX2 EXON Missense_R17H,Missense_R17H exm1413284 19 6047495 [T/C] NM_000635,NM_134433 RFX2,RFX2 EXON Missense_E5K,Missense_E5K exm1954565 19 6141573 [A/G] NM_030924 ACSBG2 EXON Missense_T7A exm1413291 19 6141593 [A/T] NM_030924 ACSBG2 EXON Missense_D13E exm1413296 19 6147483 [T/C] NM_030924 ACSBG2 EXON Nonsense_R32X exm1413298 19 6147538 [T/C] NM_030924 ACSBG2 EXON Missense_P50L exm1954567 19 6147640 [A/G] NM_030924 ACSBG2 EXON Missense_N84S exm1413307 19 6147660 [T/C] NM_030924 ACSBG2 EXON Missense_R91W exm1413308 19 6147676 [A/C] NM_030924 ACSBG2 EXON Missense_S96Y exm1413313 19 6151731 [A/G] NM_030924 ACSBG2 EXON Missense_R104H exm1413315 19 6151799 [A/C] NM_030924 ACSBG2 EXON Missense_L127I exm1413317 19 6151805 [A/G] NM_030924 ACSBG2 EXON Missense_G129R exm1413323 19 6156483 [T/C] NM_030924 ACSBG2 EXON Missense_V143A exm1413325 19 6156510 [A/G] NM_030924 ACSBG2 EXON Missense_K152R exm1413328 19 6156562 [A/G] NM_030924 ACSBG2 EXON Synonymous_S169S exm1413333 19 6165902 [A/G] NM_030924 ACSBG2 EXON Missense_R205K exm1413336 19 6165937 [A/G] NM_030924 ACSBG2 EXON Missense_E217K exm1954584 19 6165994 [T/A] NM_030924 ACSBG2 EXON Missense_I236L exm1413343 19 6177261 [T/G] NM_030924 ACSBG2 EXON Missense_V254L exm1413355 19 6183048 [A/G] NM_030924 ACSBG2 Silent exm1413356 19 6183055 [A/G] NM_030924 ACSBG2 EXON Missense_Y365C exm1413358 19 6183135 [G/C] NM_030924 ACSBG2 EXON Missense_H392D exm1413359 19 6183157 [T/C] NM_030924 ACSBG2 EXON Missense_A399V exm1413361 19 6183177 [A/G] NM_030924 ACSBG2 EXON Missense_A406T exm1413363 19 6183185 [A/C] NM_030924 ACSBG2 EXON Missense_F408L exm1413369 19 6185506 [T/C] NM_030924 ACSBG2 EXON Missense_I461T exm1413384 19 6187610 [T/C] NM_030924 ACSBG2 EXON Missense_C561R exm1413388 19 6187631 [A/G] NM_030924 ACSBG2 EXON Missense_G568R exm1413390 19 6187677 [A/G] NM_030924 ACSBG2 EXON Missense_R583Q exm1413392 19 6187680 [A/G] NM_030924 ACSBG2 EXON Missense_G584D exm1413393 19 6187686 [A/G] NM_030924 ACSBG2 EXON Missense_G586D exm1413394 19 6187695 [T/C] NM_030924 ACSBG2 EXON Missense_A589V exm1413396 19 6187731 [C/G] NM_030924 ACSBG2 EXON Missense_P601R exm1413400 19 6187800 [A/G] NM_030924 ACSBG2 EXON Missense_R624K exm1413402 19 6187805 [G/C] NM_030924 ACSBG2 EXON Missense_E626Q exm1413439 19 6218024 [G/C] NM_005934 MLLT1 EXON Missense_S380T exm1413441 19 6218036 [A/G] NM_005934 MLLT1 EXON Missense_P376L exm1413448 19 6222277 [A/G] NM_005934 MLLT1 EXON Missense_S322F exm1413451 19 6222304 [G/C] NM_005934 MLLT1 EXON Missense_G313A exm1413456 19 6222353 [T/C] NM_005934 MLLT1 EXON Missense_A297T exm2254078 19 6222354 [A/G] NM_005934 MLLT1 EXON Synonymous_S296S exm1413462 19 6222553 [A/G] NM_005934 MLLT1 EXON Missense_S230L exm1413463 19 6222610 [T/C] NM_005934 MLLT1 EXON Missense_S211N exm1413494 19 6306857 [T/C] NM_133492 ACER1 EXON Missense_M221I exm1413499 19 6307246 [T/C] NM_133492 ACER1 EXON Missense_V182I exm1413501 19 6307261 [T/C] NM_133492 ACER1 EXON Missense_V177M exm1413511 19 6312169 [G/C] NM_133492 ACER1 EXON Missense_G114A exm1413515 19 6312259 [T/C] NM_133492 ACER1 EXON Missense_G84D exm1413516 19 6312290 [T/C] NM_133492 ACER1 EXON Missense_M74V exm1413520 19 6312465 [C/G] NM_133492 ACER1 EXON Missense_L47V exm1413527 19 6333498 [A/G] NM_133492 ACER1 EXON Missense_S22L exm1413528 19 6333510 [T/G] NM_133492 ACER1 EXON Missense_N18T exm1413608 19 6374554 [A/G] NM_032306 ALKBH7 EXON Missense_E153K exm1413613 19 6374890 [A/G] NM_032306 ALKBH7 EXON Missense_R191Q exm1413629 19 6375505 [A/G] NM_004158 PSPN EXON Missense_R91C exm1413632 19 6375606 [T/C] NM_004158 PSPN EXON Missense_R57H exm1413639 19 6375785 [T/C] NM_004158 PSPN EXON Missense_A26T exm1954829 19 6375854 [T/C] NM_004158 PSPN EXON Missense_V3I exm1954833 19 6380372 [T/C] NM_002096 GTF2F1 EXON Missense_V492M exm2254081 19 6380469 [T/C] NM_002096 GTF2F1 EXON Synonymous_V459V exm1413659 19 6380626 [A/G] NM_002096 GTF2F1 EXON Missense_S436L exm1413665 19 6380696 [A/G] NM_002096 GTF2F1 EXON Missense_R413W exm1413672 19 6380990 [A/G] NM_002096 GTF2F1 EXON Missense_R386C exm2230393 19 6381034 [T/C] NM_002096 GTF2F1 EXON Missense_K371R exm1413682 19 6381205 [G/C] NM_002096 GTF2F1 EXON Missense_D340E exm1413694 19 6381628 [T/C] NM_002096 GTF2F1 Silent exm1413741 19 6389512 [T/G] NM_002096 GTF2F1 EXON Missense_E90A exm1413742 19 6389522 [T/C] NM_002096 GTF2F1 EXON Missense_V87I exm2268216 19 6391219 [A/G] NM_002096 GTF2F1 Silent exm1413754 19 6392906 [T/G] NM_002096 GTF2F1 EXON Missense_S7R exm1413755 19 6392908 [T/C] NM_002096 GTF2F1 EXON Missense_S7G exm1413756 19 6392910 [A/G] NM_002096 GTF2F1 EXON Missense_P6L exm2254082 19 6418004 [A/G] NM_003685 KHSRP EXON Synonymous_G322G exm1413809 19 6418520 [T/C] NM_003685 KHSRP EXON Missense_I285V exm1413837 19 6421296 [T/G] NM_003685 KHSRP EXON Missense_P140T exm1413840 19 6422423 [A/C] NM_003685 KHSRP EXON Missense_A92S exm1413852 19 6426528 [A/G] NM_173637 SLC25A41 EXON Missense_R329W exm1413853 19 6426540 [T/C] NM_173637 SLC25A41 EXON Missense_G325R exm1413859 19 6426574 [T/C] NM_173637 SLC25A41 Silent exm1413862 19 6427137 [A/G] NM_173637 SLC25A41 EXON Missense_V306A exm1413864 19 6427364 [G/C] NM_173637 SLC25A41 EXON Missense_T258S exm1413866 19 6427407 [A/C] NM_173637 SLC25A41 EXON Missense_G244C exm1413868 19 6427409 [T/C] NM_173637 SLC25A41 EXON Missense_R243H exm1413870 19 6427433 [T/C] NM_173637 SLC25A41 EXON Missense_R235Q exm1413871 19 6427481 [T/G] NM_173637 SLC25A41 EXON Missense_T219K exm1413875 19 6427496 [A/C] NM_173637 SLC25A41 EXON Missense_L214W exm1413887 19 6430031 [T/C] NM_173637 SLC25A41 EXON Missense_V169I exm1413889 19 6430081 [T/C] NM_173637 SLC25A41 EXON Missense_N152S exm1413890 19 6430106 [T/C] NM_173637 SLC25A41 EXON Missense_G144S exm1413894 19 6432094 [A/G] NM_173637 SLC25A41 EXON Missense_T110M exm1413895 19 6432100 [A/G] NM_173637 SLC25A41 EXON Missense_T108M exm1413896 19 6432112 [A/G] NM_173637 SLC25A41 EXON Missense_A104V exm1413911 19 6433605 [A/G] NM_173637 SLC25A41 EXON Nonsense_Q34X exm1413914 19 6433619 [A/G] NM_173637 SLC25A41 EXON Missense_A29V exm1413915 19 6433629 [G/C] NM_173637 SLC25A41 EXON Missense_L26V exm1413939 19 6444299 [T/C] NM_024103 SLC25A23 EXON Nonsense_W362X exm1954994 19 6452325 [T/C] NM_024103 SLC25A23 EXON Missense_E357K exm1413962 19 6454440 [T/C] NM_024103 SLC25A23 EXON Missense_R230Q exm2276595 19 6454480 [A/C] NM_024103 SLC25A23 EXON Missense_A217S exm1413976 19 6457514 [T/C] NM_024103 SLC25A23 EXON Missense_S124N exm1413985 19 6458299 [T/C] NM_024103 SLC25A23 EXON Missense_G65R exm1413987 19 6458334 [T/C] NM_024103 SLC25A23 EXON Missense_G53D exm1413996 19 6465558 [C/G] NM_139161,NM_174881 CRB3,CRB3 EXON Missense_Q29E,Missense_Q29E exm1414000 19 6466477 [T/C] NM_139161,NM_174881 CRB3,CRB3 EXON Missense_R53C,Missense_R53C exm1414001 19 6466481 [T/C] NM_139161,NM_174881 CRB3,CRB3 EXON Missense_P54L,Missense_P54L exm1414023 19 6467589 [T/G] NM_024898 DENND1C EXON Missense_T778P exm1955033 19 6467619 [T/G] NM_024898 DENND1C EXON Missense_P768T exm1414027 19 6467643 [T/C] NM_024898 DENND1C EXON Missense_A760T exm1414030 19 6467666 [T/G] NM_024898 DENND1C EXON Missense_P752H exm1414032 19 6467717 [A/G] NM_024898 DENND1C EXON Missense_L735P exm1414039 19 6467910 [T/C] NM_024898 DENND1C EXON Missense_K671E exm1414040 19 6467966 [A/G] NM_024898 DENND1C EXON Missense_T652M exm1414043 19 6468009 [A/C] NM_024898 DENND1C EXON Missense_S638A exm1414054 19 6468330 [A/G] NM_024898 DENND1C EXON Missense_M569T exm1414055 19 6468331 [T/C] NM_024898 DENND1C EXON Missense_M569V exm1414056 19 6468339 [T/C] NM_024898 DENND1C EXON Missense_S566N exm1414059 19 6468411 [A/G] NM_024898 DENND1C EXON Missense_A542V exm1414066 19 6468592 [A/G] NM_024898 DENND1C EXON Missense_A527V exm1414075 19 6468907 [A/G] NM_024898 DENND1C EXON Missense_R489C exm1414088 19 6471291 [T/C] NM_024898 DENND1C EXON Nonsense_W425X exm1414089 19 6471429 [T/C] NM_024898 DENND1C EXON Missense_G413R exm1414121 19 6477281 [T/G] NM_024898 DENND1C EXON Missense_T154K exm1414123 19 6477415 [A/G] NM_024898 DENND1C EXON Missense_P141S exm1414131 19 6478863 [A/G] NM_024898 DENND1C EXON Synonymous_S99S exm1414135 19 6478978 [A/G] NM_024898 DENND1C EXON Missense_A89V exm1414138 19 6478991 [T/A] NM_024898 DENND1C EXON Missense_C85S exm1414144 19 6479063 [A/G] NM_024898 DENND1C EXON Missense_P61S exm1414152 19 6480013 [T/C] NM_024898 DENND1C EXON Missense_A23T exm2230405 19 6496074 [T/C] NM_006087 TUBB4A EXON Missense_G146R exm1414231 19 6534619 [A/G] NM_003811 TNFSF9 EXON Missense_I103V exm1414232 19 6534620 [A/T] NM_003811 TNFSF9 EXON Missense_I103N exm1955164 19 6534621 [C/G] NM_003811 TNFSF9 EXON Missense_I103M exm1414238 19 6534728 [G/C] NM_003811 TNFSF9 EXON Missense_G139A exm1414240 19 6534760 [T/C] NM_003811 TNFSF9 EXON Missense_R150W exm1414241 19 6534761 [A/G] NM_003811 TNFSF9 EXON Missense_R150Q exm1414247 19 6534841 [A/G] NM_003811 TNFSF9 EXON Missense_A177T exm1414252 19 6534985 [A/G] NM_003811 TNFSF9 EXON Missense_A225T exm1955170 19 6535064 [T/C] NM_003811 TNFSF9 EXON Missense_P251L exm1414269 19 6586176 [A/C] NM_001252 CD70 EXON Missense_S146I exm1414275 19 6586260 [A/G] NM_001252 CD70 EXON Missense_T118M exm1414279 19 6586291 [T/C] NM_001252 CD70 EXON Missense_I108V exm1414291 19 6590962 [T/C] NM_001252 CD70 EXON Missense_V18I exm1414301 19 6665020 [T/C] NM_172014,NM_003807 TNFSF14,TNFSF14 EXON Missense_K178E,Missense_K214E exm1414309 19 6665095 [A/G] NM_172014,NM_003807 TNFSF14,TNFSF14 EXON Missense_R153W,Missense_R189W exm2254087 19 6665195 [T/C] NM_172014,NM_003807 TNFSF14,TNFSF14 EXON Synonymous_P119P,Synonymous_P155P exm1414331 19 6667151 [T/C] NM_172014,NM_003807 TNFSF14,TNFSF14 EXON Missense_E55K,Missense_E91K exm1955210 19 6667450 [A/G] NM_172014,NM_003807 TNFSF14,TNFSF14 EXON Missense_A41V,Missense_A77V exm1414346 19 6669986 [A/G] NM_172014,NM_003807 TNFSF14,TNFSF14 EXON Missense_S32L,Missense_S32L exm1414347 19 6669995 [T/C] NM_172014,NM_003807 TNFSF14,TNFSF14 EXON Missense_R29Q,Missense_R29Q exm1414348 19 6670004 [T/C] NM_172014,NM_003807 TNFSF14,TNFSF14 EXON Missense_R26Q,Missense_R26Q exm1414353 19 6670070 [A/C] NM_172014,NM_003807 TNFSF14,TNFSF14 EXON Missense_S4I,Missense_S4I exm1414362 19 6678030 [T/G] NM_000064 C3 EXON Missense_S1619R exm1414377 19 6679172 [A/G] NM_000064 C3 EXON Missense_R1532W exm1414380 19 6679429 [T/C] NM_000064 C3 EXON Missense_R1512H exm1414384 19 6679493 [A/G] NM_000064 C3 EXON Missense_R1491W exm1414390 19 6680246 [C/G] NM_000064 C3 EXON Missense_A1460G exm1414391 19 6680256 [G/C] NM_000064 C3 EXON Missense_D1457H exm1414393 19 6681983 [T/G] NM_000064 C3 EXON Missense_D1440A exm1414406 19 6684423 [T/G] NM_000064 C3 EXON Missense_T1383N exm1414410 19 6684591 [A/G] NM_000064 C3 EXON Missense_I1367T exm1414434 19 6686274 [T/C] NM_000064 C3 EXON Missense_G1224D exm1414438 19 6686789 [A/G] NM_000064 C3 EXON Missense_P1205L exm1414444 19 6690729 [A/G] NM_000064 C3 EXON Missense_R1134W exm1414494 19 6697740 [T/G] NM_000064 C3 EXON Missense_P836T exm1414508 19 6707129 [A/G] NM_000064 C3 EXON Missense_R735W exm1414517 19 6707525 [T/C] NM_000064 C3 EXON Missense_A667T exm1414524 19 6707888 [T/C] NM_000064 C3 EXON Missense_K633R exm1414527 19 6707913 [A/T] NM_000064 C3 EXON Missense_I625F exm1414528 19 6707931 [T/C] NM_000064 C3 EXON Missense_V619M exm1414542 19 6710651 [A/G] NM_000064 C3 EXON Missense_S562L exm1414566 19 6711070 [C/G] NM_000064 C3 EXON Missense_E469D exm1414576 19 6711204 [A/G] NM_000064 C3 EXON Missense_R425C exm1414584 19 6712596 [T/C] NM_000064 C3 EXON Missense_I348V exm1414589 19 6713262 [A/G] NM_000064 C3 EXON Missense_P314L exm1414614 19 6718146 [T/G] NM_000064 C3 EXON Missense_K155Q exm1414617 19 6718387 [C/G] NM_000064 C3 EXON Missense_R102G exm2230412 19 6720553 [T/G] NM_000064 C3 EXON Missense_H16Q exm1414639 19 6731049 [A/G] NM_001080452 GPR108 EXON Missense_P503L exm1414682 19 6732562 [T/C] NM_001080452 GPR108 Silent exm1414685 19 6733049 [A/C] NM_001080452 GPR108 EXON Missense_W294C exm1955389 19 6733066 [T/C] NM_001080452 GPR108 EXON Missense_V289I exm1414701 19 6733582 [A/G] NM_001080452 GPR108 EXON Missense_T241M exm1414711 19 6733907 [C/G] NM_001080452 GPR108 EXON Missense_D189E exm1414712 19 6733923 [A/C] NM_001080452 GPR108 EXON Missense_G184V exm1414716 19 6734014 [A/G] NM_001080452 GPR108 Silent exm1414717 19 6734038 [T/C] NM_001080452 GPR108 EXON Missense_K176R exm1414718 19 6734050 [A/G] NM_001080452 GPR108 EXON Missense_A172V exm1414722 19 6734232 [A/G] NM_001080452 GPR108 EXON Missense_P154L exm1955406 19 6734259 [A/G] NM_001080452 GPR108 EXON Missense_P145L exm1414726 19 6734286 [A/G] NM_001080452 GPR108 EXON Missense_T136M exm1414727 19 6734292 [T/C] NM_001080452 GPR108 EXON Missense_Q134R exm1414730 19 6735929 [T/C] NM_001080452 GPR108 EXON Missense_R94H exm1414732 19 6736607 [A/G] NM_001080452 GPR108 EXON Missense_L79P exm1414733 19 6736667 [A/G] NM_001080452 GPR108 EXON Missense_S59F exm1414753 19 6741289 [C/G] NM_004240 TRIP10 EXON Missense_S65C exm1414754 19 6741291 [A/G] NM_004240 TRIP10 EXON Missense_K66E exm1414756 19 6742979 [T/C] NM_004240 TRIP10 EXON Missense_F67L exm1414758 19 6743046 [T/C] NM_004240 TRIP10 EXON Missense_L89P exm1414761 19 6743070 [A/G] NM_004240 TRIP10 EXON Missense_R97H exm1414766 19 6743224 [A/G] NM_004240 TRIP10 EXON Missense_R122Q exm1414769 19 6743256 [C/G] NM_004240 TRIP10 EXON Missense_Q133E exm1414777 19 6743565 [T/C] NM_004240 TRIP10 EXON Missense_R157W exm1414779 19 6743609 [A/G] NM_004240 TRIP10 EXON Synonymous_K171K exm1414782 19 6743741 [A/G] NM_004240 TRIP10 EXON Missense_R179Q exm2230415 19 6744586 [T/C] NM_004240 TRIP10 EXON Missense_R222C exm1414791 19 6744587 [A/G] NM_004240 TRIP10 EXON Missense_R222H exm1414807 19 6744932 [T/C] NM_004240 TRIP10 EXON Missense_S304L exm1414808 19 6744940 [T/C] NM_004240 TRIP10 EXON Missense_R307W exm1414825 19 6746475 [A/G] NM_004240 TRIP10 EXON Missense_E333K exm1414828 19 6746539 [A/G] NM_004240 TRIP10 EXON Missense_R354H exm1414832 19 6750006 [A/G] NM_004240 TRIP10 EXON Missense_S386G exm1414837 19 6750328 [A/G] NM_004240 TRIP10 EXON Missense_R418Q exm1414841 19 6750369 [T/C] NM_004240 TRIP10 EXON Missense_R432W exm1414842 19 6750370 [A/G] NM_004240 TRIP10 EXON Missense_R432Q exm1414844 19 6750387 [A/G] NM_004240 TRIP10 EXON Missense_A438T exm1414846 19 6750393 [A/G] NM_004240 TRIP10 EXON Missense_A440T exm1414864 19 6751206 [A/G] NM_004240 TRIP10 EXON Missense_R541Q exm2273568 19 6751293 [T/G] NM_004240 TRIP10 EXON Silent exm1414875 19 6752671 [A/G] NM_005490 SH2D3A EXON Missense_A555V exm1414886 19 6754093 [A/G] NM_005490 SH2D3A EXON Missense_P452S exm1414900 19 6754876 [T/C] NM_005490 SH2D3A EXON Missense_S316N exm1414904 19 6754939 [T/C] NM_005490 SH2D3A EXON Missense_R295Q exm1414910 19 6755081 [A/G] NM_005490 SH2D3A EXON Nonsense_Q248X exm1414911 19 6755113 [T/C] NM_005490 SH2D3A EXON Missense_R237Q exm1414912 19 6755120 [T/C] NM_005490 SH2D3A EXON Missense_V235M exm1414914 19 6755137 [A/G] NM_005490 SH2D3A EXON Missense_P229L exm1414917 19 6755155 [T/C] NM_005490 SH2D3A EXON Missense_D223G exm1414919 19 6755179 [T/C] NM_005490 SH2D3A EXON Missense_R215Q exm1955480 19 6755198 [T/C] NM_005490 SH2D3A EXON Missense_A209T exm1955481 19 6755219 [T/C] NM_005490 SH2D3A EXON Missense_D202N exm1414923 19 6755228 [T/C] NM_005490 SH2D3A EXON Missense_R199G exm1414924 19 6755236 [T/C] NM_005490 SH2D3A EXON Missense_D196G exm1955482 19 6755293 [T/C] NM_005490 SH2D3A EXON Missense_R177Q exm1414929 19 6755306 [T/A] NM_005490 SH2D3A EXON Missense_S173T exm1414933 19 6759631 [T/C] NM_005490 SH2D3A EXON Missense_R157Q exm1414934 19 6759632 [A/G] NM_005490 SH2D3A EXON Missense_R157W exm1414935 19 6759637 [A/G] NM_005490 SH2D3A EXON Missense_M155T exm1414937 19 6759676 [G/C] NM_005490 SH2D3A EXON Missense_R142T exm1414938 19 6760661 [A/G] NM_005490 SH2D3A EXON Missense_I136T exm1414941 19 6760707 [A/G] NM_005490 SH2D3A EXON Nonsense_R121X exm1955491 19 6760784 [T/C] NM_005490 SH2D3A EXON Missense_Y95C exm1955492 19 6760865 [T/C] NM_005490 SH2D3A EXON Missense_R68H exm1955493 19 6760916 [G/C] NM_005490 SH2D3A EXON Missense_C51S exm1414954 19 6760953 [T/C] NM_005490 SH2D3A EXON Missense_A39T exm1414958 19 6760974 [T/C] NM_005490 SH2D3A EXON Missense_N32D exm1955494 19 6760985 [A/G] NM_005490 SH2D3A EXON Missense_L28P exm1414988 19 6822299 [A/G] NM_001258207,NM_001258206,NM_005428 VAV1,VAV1,VAV1 EXON Missense_I173V,Missense_I173V,Missense_I173V exm1414993 19 6822458 [A/G] NM_001258207,NM_001258206,NM_005428 VAV1,VAV1,VAV1 EXON Silent,Missense_C196Y,Missense_C196Y exm1414996 19 6822521 [A/G] NM_001258207,NM_001258206,NM_005428 VAV1,VAV1,VAV1 EXON Silent,Missense_Q217R,Missense_Q217R exm1415005 19 6826630 [A/G] NM_001258207,NM_001258206,NM_005428 VAV1,VAV1,VAV1 EXON Missense_V247I,Missense_V279I,Missense_V279I exm1415021 19 6832126 [A/G] NM_001258207,NM_001258206,NM_005428 VAV1,VAV1,VAV1 EXON Missense_E443K,Missense_E475K,Missense_E475K exm1415031 19 6833543 [A/G] NM_001258207,NM_001258206,NM_005428 VAV1,VAV1,VAV1 EXON Missense_T507A,Missense_T539A,Missense_T539A exm1415038 19 6833929 [A/G] NM_001258207,NM_001258206,NM_005428 VAV1,VAV1,VAV1 EXON Missense_H549R,Missense_H581R,Missense_H581R exm1415045 19 6836491 [T/C] NM_001258207,NM_001258206,NM_005428 VAV1,VAV1,VAV1 EXON Missense_P577L,Missense_P609L,Missense_P609L exm1415059 19 6850767 [T/C] NM_001258207,NM_001258206,NM_005428 VAV1,VAV1,VAV1 EXON Missense_T707M,Missense_T717M,Missense_T739M exm1415065 19 6854108 [A/G] NM_001258207,NM_001258206,NM_005428 VAV1,VAV1,VAV1 EXON Missense_R796Q,Missense_R806Q,Missense_R828Q exm1415072 19 6887624 [T/G] NM_001256253,NM_001974,NM_001256252,NM_001256255,NM_001256254 EMR1,EMR1,EMR1,EMR1,EMR1 EXON Missense_R2L,Missense_R2L,Missense_R2L,Missense_R2L,Missense_R2L exm1415083 19 6896471 [A/G] NM_001256253,NM_001974,NM_001256252,NM_001256255,NM_001256254 EMR1,EMR1,EMR1,EMR1,EMR1 EXON Missense_S53G,Missense_S53G,Missense_S53G,Missense_S53G,Missense_S53G exm1415087 19 6896483 [A/G] NM_001256253,NM_001974,NM_001256252,NM_001256255,NM_001256254 EMR1,EMR1,EMR1,EMR1,EMR1 EXON Missense_A57T,Missense_A57T,Missense_A57T,Missense_A57T,Missense_A57T exm1415090 19 6896543 [T/C] NM_001256253,NM_001974,NM_001256252,NM_001256255,NM_001256254 EMR1,EMR1,EMR1,EMR1,EMR1 EXON Nonsense_R77X,Nonsense_R77X,Nonsense_R77X,Nonsense_R77X,Nonsense_R77X exm1415093 19 6897177 [T/C] NM_001256253,NM_001974,NM_001256252,NM_001256255,NM_001256254 EMR1,EMR1,EMR1,EMR1,EMR1 EXON Nonsense_Q86X,Nonsense_Q86X,Silent,Nonsense_Q86X,Silent exm1415105 19 6897464 [G/C] NM_001256253,NM_001974,NM_001256252,NM_001256255,NM_001256254 EMR1,EMR1,EMR1,EMR1,EMR1 EXON Missense_S140R,Missense_S140R,Missense_S88R,Silent,Silent exm1415107 19 6897474 [T/G] NM_001256253,NM_001974,NM_001256252,NM_001256255,NM_001256254 EMR1,EMR1,EMR1,EMR1,EMR1 EXON Nonsense_E144X,Nonsense_E144X,Nonsense_E92X,Silent,Silent exm1415109 19 6901891 [A/G] NM_001256253,NM_001974,NM_001256252,NM_001256255,NM_001256254 EMR1,EMR1,EMR1,EMR1,EMR1 EXON Missense_D174N,Missense_D174N,Missense_D122N,Silent,Silent exm1415110 19 6901923 [T/G] NM_001256253,NM_001974,NM_001256252,NM_001256255,NM_001256254 EMR1,EMR1,EMR1,EMR1,EMR1 EXON Missense_E184D,Missense_E184D,Missense_E132D,Silent,Silent exm1415111 19 6901961 [G/C] NM_001256253,NM_001974,NM_001256252,NM_001256255,NM_001256254 EMR1,EMR1,EMR1,EMR1,EMR1 EXON Missense_C197S,Missense_C197S,Missense_C145S,Silent,Silent exm1415113 19 6902024 [T/C] NM_001256253,NM_001974,NM_001256252,NM_001256255,NM_001256254 EMR1,EMR1,EMR1,EMR1,EMR1 EXON Missense_S218L,Missense_S218L,Missense_S166L,Silent,Silent exm1415115 19 6903880 [T/A] NM_001256253,NM_001974,NM_001256252,NM_001256255,NM_001256254 EMR1,EMR1,EMR1,EMR1,EMR1 EXON Missense_S241C,Missense_S241C,Missense_S189C,Silent,Missense_S100C exm1415125 19 6904137 [T/C] NM_001256253,NM_001974,NM_001256252,NM_001256255,NM_001256254 EMR1,EMR1,EMR1,EMR1,EMR1 EXON Missense_A298V,Missense_A298V,Missense_A246V,Silent,Missense_A157V exm1415129 19 6906503 [T/C] NM_001256253,NM_001974,NM_001256252,NM_001256255,NM_001256254 EMR1,EMR1,EMR1,EMR1,EMR1 EXON Nonsense_Q337X,Nonsense_Q337X,Nonsense_Q285X,Nonsense_Q160X,Nonsense_Q196X exm1415131 19 6906515 [A/G] NM_001256253,NM_001974,NM_001256252,NM_001256255,NM_001256254 EMR1,EMR1,EMR1,EMR1,EMR1 EXON Missense_A341T,Missense_A341T,Missense_A289T,Missense_A164T,Missense_A200T exm1415142 19 6908764 [T/C] NM_001256253,NM_001974,NM_001256252,NM_001256255,NM_001256254 EMR1,EMR1,EMR1,EMR1,EMR1 EXON Missense_T368M,Missense_T368M,Missense_T316M,Missense_T191M,Missense_T227M exm1415151 19 6913707 [T/C] NM_001256253,NM_001974,NM_001256252,NM_001256255,NM_001256254 EMR1,EMR1,EMR1,EMR1,EMR1 EXON Missense_T389M,Missense_T389M,Missense_T337M,Missense_T212M,Missense_T248M exm1415152 19 6913734 [T/C] NM_001256253,NM_001974,NM_001256252,NM_001256255,NM_001256254 EMR1,EMR1,EMR1,EMR1,EMR1 EXON Missense_T398M,Missense_T398M,Missense_T346M,Missense_T221M,Missense_T257M exm1415155 19 6913811 [A/G] NM_001256253,NM_001974,NM_001256252,NM_001256255,NM_001256254 EMR1,EMR1,EMR1,EMR1,EMR1 EXON Missense_I424V,Missense_I424V,Missense_I372V,Missense_I247V,Missense_I283V exm1415156 19 6913818 [T/C] NM_001256253,NM_001974,NM_001256252,NM_001256255,NM_001256254 EMR1,EMR1,EMR1,EMR1,EMR1 EXON Missense_P426L,Missense_P426L,Missense_P374L,Missense_P249L,Missense_P285L exm1415158 19 6913830 [T/C] NM_001256253,NM_001974,NM_001256252,NM_001256255,NM_001256254 EMR1,EMR1,EMR1,EMR1,EMR1 EXON Missense_T430M,Missense_T430M,Missense_T378M,Missense_T253M,Missense_T289M exm1415166 19 6916347 [A/G] NM_001256253,NM_001974,NM_001256252,NM_001256255,NM_001256254 EMR1,EMR1,EMR1,EMR1,EMR1 EXON Missense_G463E,Missense_G463E,Missense_G411E,Missense_G286E,Missense_G322E exm1415173 19 6919624 [A/C] NM_001256253,NM_001974,NM_001256252,NM_001256255,NM_001256254 EMR1,EMR1,EMR1,EMR1,EMR1 EXON Missense_K496Q,Missense_K496Q,Missense_K444Q,Missense_K319Q,Missense_K355Q exm1415176 19 6919753 [A/G] NM_001256253,NM_001974,NM_001256252,NM_001256255,NM_001256254 EMR1,EMR1,EMR1,EMR1,EMR1 EXON Missense_I539V,Missense_I539V,Missense_I487V,Missense_I362V,Missense_I398V exm1415181 19 6921868 [A/G] NM_001256253,NM_001974,NM_001256252,NM_001256255,NM_001256254 EMR1,EMR1,EMR1,EMR1,EMR1 EXON Missense_V589I,Missense_V589I,Missense_V537I,Missense_V412I,Missense_V448I exm1415188 19 6924756 [T/C] NM_001256253,NM_001974,NM_001256252,NM_001256255,NM_001256254 EMR1,EMR1,EMR1,EMR1,EMR1 EXON Silent,Missense_A620V,Missense_A568V,Missense_A443V,Missense_A479V exm1415189 19 6924758 [A/G] NM_001256253,NM_001974,NM_001256252,NM_001256255,NM_001256254 EMR1,EMR1,EMR1,EMR1,EMR1 EXON Silent,Missense_I621V,Missense_I569V,Missense_I444V,Missense_I480V exm1415198 19 6924882 [A/T] NM_001256253,NM_001974,NM_001256252,NM_001256255,NM_001256254 EMR1,EMR1,EMR1,EMR1,EMR1 EXON Silent,Missense_K662M,Missense_K610M,Missense_K485M,Missense_K521M exm1415205 19 6926378 [T/C] NM_001256253,NM_001974,NM_001256252,NM_001256255,NM_001256254 EMR1,EMR1,EMR1,EMR1,EMR1 EXON Missense_M598T,Missense_M663T,Missense_M611T,Missense_M486T,Missense_M522T exm1415206 19 6926396 [T/C] NM_001256253,NM_001974,NM_001256252,NM_001256255,NM_001256254 EMR1,EMR1,EMR1,EMR1,EMR1 EXON Missense_A604V,Missense_A669V,Missense_A617V,Missense_A492V,Missense_A528V exm1415211 19 6926552 [T/C] NM_001256253,NM_001974,NM_001256252,NM_001256255,NM_001256254 EMR1,EMR1,EMR1,EMR1,EMR1 EXON Missense_P656L,Missense_P721L,Missense_P669L,Missense_P544L,Missense_P580L exm1415213 19 6926560 [G/C] NM_001256253,NM_001974,NM_001256252,NM_001256255,NM_001256254 EMR1,EMR1,EMR1,EMR1,EMR1 EXON Missense_V659L,Missense_V724L,Missense_V672L,Missense_V547L,Missense_V583L exm1415214 19 6926611 [T/C] NM_001256253,NM_001974,NM_001256252,NM_001256255,NM_001256254 EMR1,EMR1,EMR1,EMR1,EMR1 EXON Missense_R676C,Missense_R741C,Missense_R689C,Missense_R564C,Missense_R600C exm1415216 19 6928217 [A/G] NM_001256253,NM_001974,NM_001256252,NM_001256255,NM_001256254 EMR1,EMR1,EMR1,EMR1,EMR1 EXON Missense_I697V,Missense_I762V,Missense_I710V,Missense_I585V,Missense_I621V exm1415227 19 6937555 [G/C] NM_001256253,NM_001974,NM_001256252,NM_001256255,NM_001256254 EMR1,EMR1,EMR1,EMR1,EMR1 EXON Missense_V786L,Missense_V851L,Missense_V832L,Missense_V674L,Missense_V710L exm1415231 19 6937642 [A/C] NM_001256253,NM_001974,NM_001256252,NM_001256255,NM_001256254 EMR1,EMR1,EMR1,EMR1,EMR1 EXON Missense_P815T,Missense_P880T,Missense_P861T,Missense_P703T,Missense_P739T exm1415232 19 6937658 [T/C] NM_001256253,NM_001974,NM_001256252,NM_001256255,NM_001256254 EMR1,EMR1,EMR1,EMR1,EMR1 EXON Missense_T820M,Missense_T885M,Missense_T866M,Missense_T708M,Missense_T744M exm1415307 19 7075115 [T/C] NM_001044388,NM_001044387,NM_024341 ZNF557,ZNF557,ZNF557 EXON Synonymous_A10A,Synonymous_A10A,Synonymous_A10A exm1415311 19 7075696 [A/G] NM_001044388,NM_001044387,NM_024341 ZNF557,ZNF557,ZNF557 EXON Missense_R14Q,Missense_R21Q,Missense_R21Q exm1415322 19 7081431 [T/C] NM_001044388,NM_001044387,NM_024341 ZNF557,ZNF557,ZNF557 EXON Missense_T96I,Missense_T103I,Missense_T103I exm1415327 19 7082035 [A/G] NM_001044388,NM_001044387,NM_024341 ZNF557,ZNF557,ZNF557 EXON Missense_R126Q,Missense_R133Q,Missense_R133Q exm1415334 19 7083010 [A/G] NM_001044388,NM_001044387,NM_024341 ZNF557,ZNF557,ZNF557 EXON Missense_S176N,Missense_S183N,Missense_S183N exm1415335 19 7083048 [A/G] NM_001044388,NM_001044387,NM_024341 ZNF557,ZNF557,ZNF557 EXON Missense_A189T,Missense_A196T,Missense_A196T exm2230426 19 7083094 [A/G] NM_001044388,NM_001044387,NM_024341 ZNF557,ZNF557,ZNF557 EXON Missense_N204S,Missense_N211S,Missense_N211S exm2230427 19 7083178 [A/G] NM_001044388,NM_001044387,NM_024341 ZNF557,ZNF557,ZNF557 EXON Missense_S232N,Missense_S239N,Missense_S239N exm1415345 19 7083322 [T/C] NM_001044388,NM_001044387,NM_024341 ZNF557,ZNF557,ZNF557 EXON Missense_T280M,Missense_T287M,Missense_T287M exm1415346 19 7083388 [T/C] NM_001044388,NM_001044387,NM_024341 ZNF557,ZNF557,ZNF557 EXON Missense_S302L,Missense_S309L,Missense_S309L exm1415349 19 7083412 [A/G] NM_001044388,NM_001044387,NM_024341 ZNF557,ZNF557,ZNF557 EXON Missense_E310G,Missense_E317G,Missense_E317G exm1415354 19 7083479 [A/G] NM_001044388,NM_001044387,NM_024341 ZNF557,ZNF557,ZNF557 EXON Missense_I332M,Missense_I339M,Missense_I339M exm1415356 19 7083553 [A/C] NM_001044388,NM_001044387,NM_024341 ZNF557,ZNF557,ZNF557 EXON Missense_T357K,Missense_T364K,Missense_T364K exm-rs966591 19 7083629 [A/G] NM_001044388,NM_001044387,NM_024341 ZNF557,ZNF557,ZNF557 EXON Synonymous_S382S,Synonymous_S389S,Synonymous_S389S exm1415375 19 7117197 [A/G] NM_000208,NM_001079817 INSR,INSR EXON Missense_A1340V,Missense_A1328V exm1415399 19 7125359 [G/C] NM_000208,NM_001079817 INSR,INSR EXON Missense_L1065V,Missense_L1053V exm1415408 19 7125518 [T/C] NM_000208,NM_001079817 INSR,INSR EXON Missense_V1012M,Missense_V1000M exm1415411 19 7126637 [T/G] NM_000208,NM_001079817 INSR,INSR EXON Missense_L991I,Missense_L979I exm1415429 19 7132218 [T/C] NM_000208,NM_001079817 INSR,INSR EXON Synonymous_A931A,Synonymous_A919A exm2254090 19 7132218 [T/C] NM_000208,NM_001079817 INSR,INSR EXON Synonymous_A931A,Synonymous_A919A exm1415438 19 7132313 [T/C] NM_000208,NM_001079817 INSR,INSR EXON Missense_V900I,Missense_V888I exm1415442 19 7141704 [T/C] NM_000208,NM_001079817 INSR,INSR EXON Missense_R889Q,Missense_R877Q exm1415443 19 7141705 [A/G] NM_000208,NM_001079817 INSR,INSR EXON Missense_R889W,Missense_R877W exm1415452 19 7141795 [A/G] NM_000208,NM_001079817 INSR,INSR EXON Missense_H859Y,Missense_H847Y exm1415453 19 7141797 [A/G] NM_000208,NM_001079817 INSR,INSR EXON Missense_T858M,Missense_T846M exm1415487 19 7150512 [A/G] NM_000208,NM_001079817 INSR,INSR EXON Missense_P755S,Silent exm1415489 19 7150532 [A/G] NM_000208,NM_001079817 INSR,INSR EXON Missense_S748L,Silent exm1415494 19 7152851 [T/G] NM_000208,NM_001079817 INSR,INSR EXON Missense_A706D,Missense_A706D exm1415517 19 7167979 [A/G] NM_000208,NM_001079817 INSR,INSR EXON Missense_A537V,Missense_A537V exm1415519 19 7168039 [T/C] NM_000208,NM_001079817 INSR,INSR EXON Missense_E517G,Missense_E517G exm1415546 19 7184342 [A/G] NM_000208,NM_001079817 INSR,INSR EXON Missense_T320M,Missense_T320M exm-rs891088 19 7184762 [A/G] NM_000208,NM_001079817 INSR,INSR Silent,Silent exm2272758 19 7189375 [T/C] NM_000208,NM_001079817 INSR,INSR Silent,Silent exm-rs2115386 19 7196565 [T/C] NM_000208,NM_001079817 INSR,INSR Silent,Silent exm-rs7248104 19 7224431 [A/G] NM_000208,NM_001079817 INSR,INSR Silent,Silent exm1415581 19 7267857 [T/C] NM_000208,NM_001079817 INSR,INSR EXON Missense_E51K,Missense_E51K exm2260895 19 7411780 [A/G] exm1415600 19 7505163 [T/C] NM_015318,NM_001130955 ARHGEF18,ARHGEF18 EXON Silent,Missense_R113C exm1415604 19 7505332 [A/C] NM_015318,NM_001130955 ARHGEF18,ARHGEF18 EXON Missense_P11Q,Missense_P169Q exm1415606 19 7506574 [T/C] NM_015318,NM_001130955 ARHGEF18,ARHGEF18 EXON Missense_A35V,Missense_A193V exm1415615 19 7506800 [T/C] NM_015318,NM_001130955 ARHGEF18,ARHGEF18 EXON Missense_P62S,Missense_P220S exm1415621 19 7506936 [A/T] NM_015318,NM_001130955 ARHGEF18,ARHGEF18 EXON Missense_Y107F,Missense_Y265F exm1415626 19 7509120 [A/G] NM_015318,NM_001130955 ARHGEF18,ARHGEF18 EXON Missense_R118Q,Missense_R276Q exm1415631 19 7509252 [A/G] NM_015318,NM_001130955 ARHGEF18,ARHGEF18 EXON Missense_R162Q,Missense_R320Q exm1415635 19 7509332 [A/G] NM_015318,NM_001130955 ARHGEF18,ARHGEF18 EXON Missense_V189I,Missense_V347I exm1415639 19 7512016 [G/C] NM_015318,NM_001130955 ARHGEF18,ARHGEF18 EXON Missense_L221V,Missense_L379V exm1415647 19 7516137 [A/C] NM_015318,NM_001130955 ARHGEF18,ARHGEF18 EXON Missense_I268L,Missense_I426L exm1415648 19 7516147 [T/C] NM_015318,NM_001130955 ARHGEF18,ARHGEF18 EXON Missense_T271M,Missense_T429M exm1415651 19 7518397 [A/G] NM_015318,NM_001130955 ARHGEF18,ARHGEF18 EXON Missense_I288V,Missense_I446V exm1415652 19 7518401 [A/G] NM_015318,NM_001130955 ARHGEF18,ARHGEF18 EXON Missense_K289R,Missense_K447R exm1415658 19 7518584 [T/C] NM_015318,NM_001130955 ARHGEF18,ARHGEF18 EXON Missense_T350I,Missense_T508I exm1415667 19 7523505 [A/G] NM_015318,NM_001130955 ARHGEF18,ARHGEF18 EXON Missense_M417I,Missense_M575I exm1415682 19 7527121 [A/G] NM_015318,NM_001130955 ARHGEF18,ARHGEF18 EXON Missense_G500S,Missense_G658S exm1415686 19 7527157 [T/C] NM_015318,NM_001130955 ARHGEF18,ARHGEF18 EXON Missense_R512C,Missense_R670C exm1415695 19 7528734 [A/G] NM_015318,NM_001130955 ARHGEF18,ARHGEF18 EXON Missense_Q543R,Missense_Q701R exm1955882 19 7528817 [A/G] NM_015318,NM_001130955 ARHGEF18,ARHGEF18 EXON Missense_D571N,Missense_D729N exm2230434 19 7529491 [A/G] NM_015318,NM_001130955 ARHGEF18,ARHGEF18 EXON Missense_R594Q,Missense_R752Q exm1415717 19 7531856 [T/C] NM_015318,NM_001130955 ARHGEF18,ARHGEF18 EXON Missense_S640L,Missense_S798L exm1415729 19 7532208 [A/C] NM_015318,NM_001130955 ARHGEF18,ARHGEF18 EXON Missense_Q694K,Missense_Q852K exm1415742 19 7533786 [A/G] NM_015318,NM_001130955 ARHGEF18,ARHGEF18 EXON Missense_G840S,Missense_G998S exm1415744 19 7533811 [A/G] NM_015318,NM_001130955 ARHGEF18,ARHGEF18 EXON Missense_R848H,Missense_R1006H exm1415750 19 7533850 [A/G] NM_015318,NM_001130955 ARHGEF18,ARHGEF18 EXON Missense_N861S,Missense_N1019S exm1415752 19 7533891 [A/G] NM_015318,NM_001130955 ARHGEF18,ARHGEF18 EXON Missense_A875T,Missense_A1033T exm1415754 19 7533973 [A/G] NM_015318,NM_001130955 ARHGEF18,ARHGEF18 EXON Missense_D902G,Missense_D1060G exm1415757 19 7534790 [T/C] NM_015318,NM_001130955 ARHGEF18,ARHGEF18 EXON Missense_A917V,Missense_A1075V exm1415766 19 7535026 [A/G] NM_015318,NM_001130955 ARHGEF18,ARHGEF18 EXON Missense_A964T,Missense_A1122T exm1415777 19 7535126 [T/C] NM_015318,NM_001130955 ARHGEF18,ARHGEF18 EXON Missense_P997L,Missense_P1155L exm1415783 19 7535170 [A/G] NM_015318,NM_001130955 ARHGEF18,ARHGEF18 EXON Missense_V1012I,Missense_V1170I exm1415794 19 7542168 [A/G] NM_080662,NM_001270539 PEX11G,PEX11G EXON Missense_L216F,Silent exm1415799 19 7542228 [T/C] NM_080662,NM_001270539 PEX11G,PEX11G EXON Missense_V196M,Silent exm1415807 19 7543209 [C/G] NM_080662,NM_001270539 PEX11G,PEX11G EXON Missense_P161R,Missense_P161R exm1415809 19 7543215 [A/G] NM_080662,NM_001270539 PEX11G,PEX11G EXON Missense_T159M,Missense_T159M exm1415810 19 7543224 [T/C] NM_080662,NM_001270539 PEX11G,PEX11G EXON Missense_R156Q,Missense_R156Q exm1415817 19 7547022 [T/C] NM_080662,NM_001270539 PEX11G,PEX11G EXON Missense_V109M,Missense_V109M exm1415822 19 7547074 [A/C] NM_080662,NM_001270539 PEX11G,PEX11G EXON Missense_C91W,Missense_C91W exm1415827 19 7550747 [T/C] NM_080662,NM_001270539 PEX11G,PEX11G EXON Missense_K76E,Missense_K76E exm1955930 19 7550761 [A/G] NM_080662,NM_001270539 PEX11G,PEX11G EXON Missense_M71T,Missense_M71T exm1415829 19 7550828 [C/G] NM_080662,NM_001270539 PEX11G,PEX11G EXON Missense_L49V,Missense_L49V exm1415830 19 7550830 [T/C] NM_080662,NM_001270539 PEX11G,PEX11G EXON Missense_R48H,Missense_R48H exm1415838 19 7553859 [T/G] NM_080662,NM_001270539 PEX11G,PEX11G EXON Nonsense_S13X,Nonsense_S13X exm1415840 19 7565735 [G/C] NM_198534 C19orf45 EXON Missense_C9W exm1415867 19 7569091 [G/C] NM_198534 C19orf45 EXON Missense_P221R exm1415869 19 7569206 [A/G] NM_198534 C19orf45 EXON Missense_G231R exm1415871 19 7569245 [A/G] NM_198534 C19orf45 EXON Missense_T244A exm1415875 19 7569282 [A/G] NM_198534 C19orf45 EXON Missense_D256G exm1415878 19 7570278 [C/G] NM_198534 C19orf45 EXON Missense_R284P exm1415882 19 7570322 [A/G] NM_198534 C19orf45 EXON Missense_E299K exm1415889 19 7570938 [A/G] NM_198534 C19orf45 EXON Missense_K365R exm1415891 19 7570958 [A/G] NM_198534 C19orf45 EXON Missense_M372V exm1415896 19 7571030 [T/A] NM_198534 C19orf45 EXON Missense_Y396N exm1415907 19 7573128 [C/G] NM_198534 C19orf45 EXON Missense_L444V exm1415909 19 7573158 [A/G] NM_198534 C19orf45 EXON Missense_E454K exm1955975 19 7573177 [A/G] NM_198534 C19orf45 EXON Missense_Q460R exm1415910 19 7573221 [A/G] NM_198534 C19orf45 EXON Missense_V475M exm1415911 19 7573225 [A/C] NM_198534 C19orf45 EXON Missense_P476H exm1415919 19 7573287 [T/C] NM_198534 C19orf45 EXON Missense_P497S exm1415925 19 7584223 [A/G] NM_018083 ZNF358 EXON Missense_N32S exm1415926 19 7584235 [T/C] NM_018083 ZNF358 EXON Missense_L36P exm1415939 19 7584388 [T/C] NM_018083 ZNF358 EXON Missense_P87L exm2230446 19 7584435 [T/C] NM_018083 ZNF358 EXON Missense_P103S exm1415944 19 7584483 [A/C] NM_018083 ZNF358 EXON Missense_K119Q exm1415945 19 7584532 [T/C] NM_018083 ZNF358 EXON Missense_A135V exm1415962 19 7584918 [A/C] NM_018083 ZNF358 EXON Missense_K264Q exm2230448 19 7585663 [T/C] NM_018083 ZNF358 EXON Missense_L512P exm1416013 19 7585735 [A/C] NM_018083 ZNF358 EXON Missense_P536H exm1416014 19 7585762 [C/G] NM_018083 ZNF358 EXON Missense_S545T exm1416018 19 7589856 [A/G] NM_020533 MCOLN1 EXON Missense_R14Q exm1416020 19 7589886 [A/C] NM_020533 MCOLN1 EXON Missense_T24N exm1416032 19 7590045 [T/C] NM_020533 MCOLN1 EXON Missense_T77M exm1416036 19 7591392 [A/G] NM_020533 MCOLN1 EXON Missense_R102Q exm1416037 19 7591416 [T/C] NM_020533 MCOLN1 EXON Missense_S110L exm1416047 19 7591654 [T/C] NM_020533 MCOLN1 EXON Missense_A138V exm1416050 19 7591731 [A/G] NM_020533 MCOLN1 EXON Missense_A164T exm1416065 19 7592840 [A/C] NM_020533 MCOLN1 EXON Missense_S257R exm1416067 19 7593048 [T/C] NM_020533 MCOLN1 EXON Missense_T261M exm1416069 19 7593122 [A/C] NM_020533 MCOLN1 EXON Missense_H286N exm1416074 19 7593554 [A/G] NM_020533 MCOLN1 EXON Missense_A317T exm1416076 19 7593589 [T/C] NM_020533 MCOLN1 EXON Synonymous_N328N exm1416078 19 7593722 [A/G] NM_020533 MCOLN1 EXON Missense_M334V exm1956030 19 7593724 [A/G] NM_020533 MCOLN1 EXON Missense_M334I exm1416146 19 7605870 [C/G] NM_006702,NM_001166112,NM_001166111,NM_001166113,NM_001166114 PNPLA6,PNPLA6,PNPLA6,PNPLA6,PNPLA6 EXON Missense_R247P,Missense_R247P,Missense_R295P,Missense_R247P,Missense_R286P exm1416163 19 7606511 [T/C] NM_006702,NM_001166112,NM_001166111,NM_001166113,NM_001166114 PNPLA6,PNPLA6,PNPLA6,PNPLA6,PNPLA6 EXON Missense_P331L,Missense_P331L,Missense_P379L,Missense_P331L,Missense_P370L exm1416169 19 7606908 [C/G] NM_006702,NM_001166112,NM_001166111,NM_001166113,NM_001166114 PNPLA6,PNPLA6,PNPLA6,PNPLA6,PNPLA6 EXON Missense_A364P,Missense_A364P,Missense_A412P,Missense_A364P,Missense_A403P exm1416186 19 7607741 [T/C] NM_006702,NM_001166112,NM_001166111,NM_001166113,NM_001166114 PNPLA6,PNPLA6,PNPLA6,PNPLA6,PNPLA6 EXON Missense_P447L,Missense_P447L,Missense_P495L,Missense_P447L,Missense_P486L exm1416211 19 7618859 [A/G] NM_006702,NM_001166112,NM_001166111,NM_001166113,NM_001166114 PNPLA6,PNPLA6,PNPLA6,PNPLA6,PNPLA6 EXON Missense_V749M,Missense_V722M,Missense_V797M,Missense_V749M,Missense_V787M exm1416240 19 7620171 [G/C] NM_006702,NM_001166112,NM_001166111,NM_001166113,NM_001166114 PNPLA6,PNPLA6,PNPLA6,PNPLA6,PNPLA6 EXON Missense_D914H,Missense_D887H,Missense_D962H,Missense_D914H,Missense_D952H exm1416245 19 7620495 [G/C] NM_006702,NM_001166112,NM_001166111,NM_001166113,NM_001166114 PNPLA6,PNPLA6,PNPLA6,PNPLA6,PNPLA6 EXON Missense_G942A,Missense_G915A,Missense_G990A,Missense_G942A,Missense_G980A exm2254093 19 7621564 [T/C] NM_006702,NM_001166112,NM_001166111,NM_001166113,NM_001166114 PNPLA6,PNPLA6,PNPLA6,PNPLA6,PNPLA6 EXON Synonymous_N1040N,Synonymous_N1013N,Synonymous_N1088N,Synonymous_N1040N,Synonymous_N1078N exm1416269 19 7623766 [T/C] NM_006702,NM_001166112,NM_001166111,NM_001166113,NM_001166114 PNPLA6,PNPLA6,PNPLA6,PNPLA6,PNPLA6 EXON Missense_T1105M,Missense_T1078M,Missense_T1153M,Missense_T1105M,Missense_T1143M exm1416297 19 7625643 [A/G] NM_006702,NM_001166112,NM_001166111,NM_001166113,NM_001166114 PNPLA6,PNPLA6,PNPLA6,PNPLA6,PNPLA6 EXON Missense_R1232H,Missense_R1205H,Missense_R1280H,Missense_R1232H,Missense_R1270H exm1416300 19 7625995 [T/C] NM_006702,NM_001166112,NM_001166111,NM_001166113,NM_001166114 PNPLA6,PNPLA6,PNPLA6,PNPLA6,PNPLA6 EXON Synonymous_D1266D,Synonymous_D1239D,Synonymous_D1314D,Synonymous_D1266D,Synonymous_D1304D exm1416310 19 7626177 [A/G] NM_006702,NM_001166112,NM_001166111,NM_001166113,NM_001166114 PNPLA6,PNPLA6,PNPLA6,PNPLA6,PNPLA6 EXON Missense_A1295T,Missense_A1268T,Missense_A1343T,Missense_A1295T,Missense_A1333T exm1416318 19 7626423 [T/C] NM_006702,NM_001166112,NM_001166111,NM_001166113,NM_001166114 PNPLA6,PNPLA6,PNPLA6,PNPLA6,PNPLA6 EXON Missense_P1320L,Missense_P1293L,Missense_P1368L,Missense_P1320L,Missense_P1358L exm1416320 19 7626428 [A/G] NM_006702,NM_001166112,NM_001166111,NM_001166113,NM_001166114 PNPLA6,PNPLA6,PNPLA6,PNPLA6,PNPLA6 EXON Missense_G1322S,Missense_G1295S,Missense_G1370S,Missense_G1322S,Missense_G1360S exm1416349 19 7673045 [T/C] NM_020902,NM_001080429 CAMSAP3,CAMSAP3 EXON Missense_R219C,Missense_R246C exm1416362 19 7675440 [A/G] NM_020902,NM_001080429 CAMSAP3,CAMSAP3 EXON Missense_R280H,Missense_R307H exm1416373 19 7675771 [T/C] NM_020902,NM_001080429 CAMSAP3,CAMSAP3 EXON Missense_P335S,Missense_P362S exm1416378 19 7675994 [A/G] NM_020902,NM_001080429 CAMSAP3,CAMSAP3 EXON Missense_T355A,Missense_T382A exm1416383 19 7676462 [T/C] NM_020902,NM_001080429 CAMSAP3,CAMSAP3 EXON Missense_R395W,Missense_R422W exm1956185 19 7676736 [T/C] NM_020902,NM_001080429 CAMSAP3,CAMSAP3 EXON Missense_P453S,Missense_P480S exm1416398 19 7676901 [A/C] NM_020902,NM_001080429 CAMSAP3,CAMSAP3 EXON Missense_P508T,Missense_P535T exm1416416 19 7677321 [A/G] NM_020902,NM_001080429 CAMSAP3,CAMSAP3 EXON Missense_E648K,Missense_E675K exm1416417 19 7677322 [A/G] NM_020902,NM_001080429 CAMSAP3,CAMSAP3 EXON Missense_E648G,Missense_E675G exm2272759 19 7678127 [T/C] NM_020902,NM_001080429 CAMSAP3,CAMSAP3 Silent,Silent exm1416449 19 7681508 [A/G] NM_020902,NM_001080429 CAMSAP3,CAMSAP3 EXON Missense_R1071Q,Missense_R1098Q exm1416493 19 7685280 [T/C] NM_020196 XAB2 EXON Missense_N716S exm1416514 19 7685821 [T/G] NM_020196 XAB2 EXON Missense_Q628K exm1416530 19 7686174 [A/G] NM_020196 XAB2 EXON Missense_R543C exm1416533 19 7687293 [T/C] NM_020196 XAB2 EXON Missense_R514H exm1416546 19 7687658 [T/C] NM_020196 XAB2 EXON Missense_R454Q exm1416560 19 7688627 [T/C] NM_020196 XAB2 EXON Missense_R370H exm1416568 19 7689247 [T/C] NM_020196 XAB2 EXON Missense_E303K exm1416576 19 7690798 [T/C] NM_020196 XAB2 EXON Missense_D264N exm1416587 19 7691062 [T/G] NM_020196 XAB2 EXON Missense_D206A exm1416615 19 7692308 [T/C] NM_020196 XAB2 EXON Missense_D115N exm1416620 19 7692672 [T/G] NM_020196 XAB2 EXON Missense_D89A exm1416646 19 7694404 [T/C] NM_020196 XAB2 EXON Missense_M4V exm1416651 19 7695505 [A/G] NM_001171155,NR_033242 PET100,PET100 EXON Missense_N25S,Silent exm1416652 19 7695513 [A/G] NM_001171155,NR_033242 PET100,PET100 EXON Missense_E28K,Silent exm1416658 19 7696419 [T/C] NM_001171155,NR_033242 PET100,PET100 EXON Missense_R67C,Silent exm1416669 19 7696655 [T/G] NM_001271830,NM_174895 PCP2,PCP2 EXON Missense_P95T,Missense_P111T exm1416672 19 7696678 [T/C] NM_001271830,NM_174895 PCP2,PCP2 EXON Missense_R87Q,Missense_R103Q exm1416673 19 7696685 [A/G] NM_001271830,NM_174895 PCP2,PCP2 EXON Nonsense_Q85X,Nonsense_Q101X exm1416674 19 7696691 [T/C] NM_001271830,NM_174895 PCP2,PCP2 EXON Missense_G83R,Missense_G99R exm1416679 19 7697302 [T/C] NM_001271830,NM_174895 PCP2,PCP2 EXON Missense_G74S,Missense_G90S exm1416682 19 7697343 [T/C] NM_001271830,NM_174895 PCP2,PCP2 EXON Missense_R60H,Missense_R76H exm1416694 19 7697662 [T/C] NM_001271830,NM_174895 PCP2,PCP2 EXON Missense_D20N,Missense_D36N exm1416700 19 7697712 [A/C] NM_001271830,NM_174895 PCP2,PCP2 EXON Missense_G3V,Missense_G19V exm1416713 19 7703623 [A/G] NM_001127396,NM_006949,NM_001272034,NR_073560 STXBP2,STXBP2,STXBP2,STXBP2 EXON Missense_G17R,Missense_G17R,Missense_G17R,Silent exm2230459 19 7703653 [G/C] NM_001127396,NM_006949,NM_001272034,NR_073560 STXBP2,STXBP2,STXBP2,STXBP2 EXON Missense_E27Q,Missense_E27Q,Missense_E27Q,Silent exm1416717 19 7703984 [T/C] NM_001127396,NM_006949,NM_001272034,NR_073560 STXBP2,STXBP2,STXBP2,STXBP2 EXON Missense_T56I,Missense_T56I,Missense_T56I,Silent exm1416777 19 7705818 [T/C] NM_001127396,NM_006949,NM_001272034,NR_073560 STXBP2,STXBP2,STXBP2,STXBP2 EXON Missense_R117C,Missense_R120C,Missense_R131C,Silent exm1416780 19 7705825 [A/G] NM_001127396,NM_006949,NM_001272034,NR_073560 STXBP2,STXBP2,STXBP2,STXBP2 EXON Missense_R119H,Missense_R122H,Missense_R133H,Silent exm1956314 19 7706658 [T/C] NM_001127396,NM_006949,NM_001272034,NR_073560 STXBP2,STXBP2,STXBP2,STXBP2 EXON Missense_T163M,Missense_T166M,Missense_T177M,Silent exm1956318 19 7706944 [T/G] NM_001127396,NM_006949,NM_001272034,NR_073560 STXBP2,STXBP2,STXBP2,STXBP2 EXON Missense_L198F,Missense_L201F,Missense_L212F,Silent exm1416800 19 7706954 [A/G] NM_001127396,NM_006949,NM_001272034,NR_073560 STXBP2,STXBP2,STXBP2,STXBP2 EXON Missense_V202I,Missense_V205I,Missense_V216I,Silent exm1416802 19 7707002 [A/G] NM_001127396,NM_006949,NM_001272034,NR_073560 STXBP2,STXBP2,STXBP2,STXBP2 EXON Missense_E218K,Missense_E221K,Missense_E232K,Silent exm2230460 19 7707702 [T/C] NM_001127396,NM_006949,NM_001272034,NR_073560 STXBP2,STXBP2,STXBP2,STXBP2 EXON Missense_T315M,Missense_T318M,Missense_T329M,Silent exm1416827 19 7708058 [T/C] NM_001127396,NM_006949,NM_001272034,NR_073560 STXBP2,STXBP2,STXBP2,STXBP2 EXON Missense_T342M,Missense_T345M,Missense_T356M,Silent exm1416841 19 7710082 [C/G] NM_001127396,NM_006949,NM_001272034,NR_073560 STXBP2,STXBP2,STXBP2,STXBP2 Silent,Silent,Silent,Silent exm1416844 19 7710122 [T/C] NM_001127396,NM_006949,NM_001272034,NR_073560 STXBP2,STXBP2,STXBP2,STXBP2 EXON Missense_A426V,Missense_A429V,Missense_A440V,Silent exm1416846 19 7710134 [T/C] NM_001127396,NM_006949,NM_001272034,NR_073560 STXBP2,STXBP2,STXBP2,STXBP2 EXON Missense_A430V,Missense_A433V,Missense_A444V,Silent exm1416854 19 7711153 [T/C] NM_001127396,NM_006949,NM_001272034,NR_073560 STXBP2,STXBP2,STXBP2,STXBP2 EXON Missense_R456W,Missense_R459W,Missense_R470W,Silent exm1416871 19 7712277 [A/G] NM_001127396,NM_006949,NM_001272034,NR_073560 STXBP2,STXBP2,STXBP2,STXBP2 EXON Missense_I523V,Missense_I526V,Missense_I537V,Silent exm1416872 19 7712287 [C/G] NM_001127396,NM_006949,NM_001272034,NR_073560 STXBP2,STXBP2,STXBP2,STXBP2 EXON Missense_R526P,Missense_R529P,Missense_R540P,Silent exm1416877 19 7712322 [A/G] NM_001127396,NM_006949,NM_001272034,NR_073560 STXBP2,STXBP2,STXBP2,STXBP2 EXON Missense_G538S,Missense_G541S,Missense_G552S,Silent exm1416880 19 7712364 [A/G] NM_001127396,NM_006949,NM_001272034,NR_073560 STXBP2,STXBP2,STXBP2,STXBP2 EXON Missense_R552G,Missense_R555G,Missense_R566G,Silent exm1416886 19 7712686 [A/C] NM_001127396,NM_006949,NM_001272034,NR_073560 STXBP2,STXBP2,STXBP2,STXBP2 EXON Missense_A588D,Missense_A591D,Missense_A602D,Silent exm1956371 19 7734204 [A/G] NM_001193374,NM_020415 RETN,RETN EXON Silent,Silent exm1416906 19 7735140 [T/A] NM_001193374,NM_020415 RETN,RETN EXON Missense_C78S,Missense_C78S exm1416911 19 7742034 [A/C] NM_174918 C19orf59 EXON Missense_K23Q exm1416916 19 7742594 [T/G] NM_174918 C19orf59 EXON Missense_S56A exm1416917 19 7742598 [A/G] NM_174918 C19orf59 EXON Missense_R57Q exm1956386 19 7743009 [A/G] NM_174918 C19orf59 EXON Synonymous_P68P exm2254096 19 7743009 [A/G] NM_174918 C19orf59 EXON Synonymous_P68P exm1416923 19 7743388 [A/G] NM_174918 C19orf59 EXON Missense_V129I exm1416924 19 7743394 [A/G] NM_174918 C19orf59 EXON Missense_A131T exm1416928 19 7743430 [A/G] NM_174918 C19orf59 EXON Missense_V143I exm1416931 19 7743464 [T/C] NM_174918 C19orf59 EXON Missense_I154T exm1416935 19 7743479 [T/C] NM_174918 C19orf59 EXON Missense_T159M exm1416937 19 7743830 [A/G] NM_174918 C19orf59 EXON Missense_K170E exm1416938 19 7743845 [T/G] NM_174918 C19orf59 EXON Missense_L175V exm1416939 19 7743869 [T/C] NM_174918 C19orf59 EXON Nonsense_Q183X exm1416955 19 7747293 [T/G] NM_001042462,NM_001042461,NM_174894 TRAPPC5,TRAPPC5,TRAPPC5 EXON Missense_S52A,Missense_S52A,Missense_S52A exm1416963 19 7747435 [T/G] NM_001042462,NM_001042461,NM_174894 TRAPPC5,TRAPPC5,TRAPPC5 EXON Missense_G99V,Missense_G99V,Missense_G99V exm1416977 19 7754099 [A/G] NM_001220500,NM_002002,NM_001207019 FCER2,FCER2,FCER2 EXON Missense_S316P,Missense_S316P,Missense_S315P exm1416978 19 7754101 [A/G] NM_001220500,NM_002002,NM_001207019 FCER2,FCER2,FCER2 EXON Missense_P315L,Missense_P315L,Missense_P314L exm1416982 19 7754153 [T/C] NM_001220500,NM_002002,NM_001207019 FCER2,FCER2,FCER2 EXON Missense_E298K,Missense_E298K,Missense_E297K exm1416986 19 7754194 [T/C] NM_001220500,NM_002002,NM_001207019 FCER2,FCER2,FCER2 EXON Missense_R284Q,Missense_R284Q,Missense_R283Q exm1416989 19 7754222 [A/G] NM_001220500,NM_002002,NM_001207019 FCER2,FCER2,FCER2 EXON Missense_R275C,Missense_R275C,Missense_R274C exm1956398 19 7754251 [G/C] NM_001220500,NM_002002,NM_001207019 FCER2,FCER2,FCER2 EXON Missense_S265C,Missense_S265C,Missense_S264C exm1417014 19 7755361 [T/C] NM_001220500,NM_002002,NM_001207019 FCER2,FCER2,FCER2 EXON Nonsense_W184X,Nonsense_W184X,Nonsense_W183X exm1417018 19 7755407 [T/C] NM_001220500,NM_002002,NM_001207019 FCER2,FCER2,FCER2 EXON Missense_N169S,Missense_N169S,Missense_N168S exm1417023 19 7761711 [T/C] NM_001220500,NM_002002,NM_001207019 FCER2,FCER2,FCER2 EXON Missense_G157S,Missense_G157S,Missense_G156S exm1417028 19 7761802 [T/C] NM_001220500,NM_002002,NM_001207019 FCER2,FCER2,FCER2 Silent,Silent,Silent exm1417039 19 7762427 [A/G] NM_001220500,NM_002002,NM_001207019 FCER2,FCER2,FCER2 EXON Missense_A80V,Missense_A80V,Missense_A79V exm1417041 19 7762440 [T/C] NM_001220500,NM_002002,NM_001207019 FCER2,FCER2,FCER2 EXON Missense_G76S,Missense_G76S,Missense_G75S exm2230463 19 7762444 [T/G] NM_001220500,NM_002002,NM_001207019 FCER2,FCER2,FCER2 EXON Missense_H74Q,Missense_H74Q,Missense_H73Q exm1417045 19 7763248 [A/G] NM_001220500,NM_002002,NM_001207019 FCER2,FCER2,FCER2 EXON Missense_R62W,Missense_R62W,Missense_R61W exm1417054 19 7763662 [A/C] NM_001220500,NM_002002,NM_001207019 FCER2,FCER2,FCER2 EXON Missense_L34R,Missense_L34R,Missense_L33R exm1417083 19 7794969 [A/G] NM_198492,NM_001244856 CLEC4G,CLEC4G EXON Missense_A188V,Missense_A176V exm1417088 19 7795285 [A/C] NM_198492,NM_001244856 CLEC4G,CLEC4G EXON Missense_V144F,Missense_V132F exm1956487 19 7795923 [T/C] NM_198492,NM_001244856 CLEC4G,CLEC4G EXON Missense_C91Y,Missense_C79Y exm1417106 19 7796550 [T/C] NM_198492,NM_001244856 CLEC4G,CLEC4G EXON Missense_K55E,Missense_K43E exm1417115 19 7796958 [T/C] NM_198492,NM_001244856 CLEC4G,CLEC4G EXON Missense_G11S,Silent exm1417133 19 7808104 [T/C] NM_001144894,NM_001144895,NM_001144897,NM_021155,NR_026692,NM_001144896,NM_001144899,NM_001144893 CD209,CD209,CD209,CD209,CD209,CD209,CD209,CD209 EXON Missense_G302R,Missense_G254R,Missense_G340R,Missense_G346R,Silent,Missense_G322R,Missense_G185R,Missense_G210R exm1417136 19 7809008 [T/G] NM_001144894,NM_001144895,NM_001144897,NM_021155,NR_026692,NM_001144896,NM_001144899,NM_001144893 CD209,CD209,CD209,CD209,CD209,CD209,CD209,CD209 EXON Nonsense_S289X,Nonsense_S241X,Nonsense_S327X,Nonsense_S333X,Silent,Nonsense_S309X,Nonsense_S172X,Nonsense_S197X exm1956509 19 7809071 [T/C] NM_001144894,NM_001144895,NM_001144897,NM_021155,NR_026692,NM_001144896,NM_001144899,NM_001144893 CD209,CD209,CD209,CD209,CD209,CD209,CD209,CD209 EXON Missense_R268H,Missense_R220H,Missense_R306H,Missense_R312H,Silent,Missense_R288H,Missense_R151H,Missense_R176H exm1417143 19 7809850 [C/G] NM_001144894,NM_001144895,NM_001144897,NM_021155,NR_026692,NM_001144896,NM_001144899,NM_001144893 CD209,CD209,CD209,CD209,CD209,CD209,CD209,CD209 EXON Missense_V249L,Missense_V201L,Missense_V293L,Missense_V293L,Silent,Missense_V269L,Missense_V132L,Missense_V157L exm1417148 19 7809880 [T/C] NM_001144894,NM_001144895,NM_001144897,NM_021155,NR_026692,NM_001144896,NM_001144899,NM_001144893 CD209,CD209,CD209,CD209,CD209,CD209,CD209,CD209 EXON Missense_A239T,Missense_A191T,Missense_A283T,Missense_A283T,Silent,Missense_A259T,Missense_A122T,Missense_A147T exm1417188 19 7811372 [A/G] NM_001144894,NM_001144895,NM_001144897,NM_021155,NR_026692,NM_001144896,NM_001144899,NM_001144893 CD209,CD209,CD209,CD209,CD209,CD209,CD209,CD209 EXON Silent,Missense_T51M,Missense_T51M,Missense_T51M,Silent,Silent,Missense_T51M,Silent exm1417193 19 7812213 [A/G] NM_001144894,NM_001144895,NM_001144897,NM_021155,NR_026692,NM_001144896,NM_001144899,NM_001144893 CD209,CD209,CD209,CD209,CD209,CD209,CD209,CD209 EXON Silent,Nonsense_R29X,Nonsense_R29X,Nonsense_R29X,Silent,Nonsense_R29X,Nonsense_R29X,Silent exm1417194 19 7812222 [A/G] NM_001144894,NM_001144895,NM_001144897,NM_021155,NR_026692,NM_001144896,NM_001144899,NM_001144893 CD209,CD209,CD209,CD209,CD209,CD209,CD209,CD209 EXON Silent,Nonsense_R26X,Nonsense_R26X,Nonsense_R26X,Silent,Nonsense_R26X,Nonsense_R26X,Silent exm1417203 19 7828177 [A/G] NM_001144904,NM_001144911,NM_001144910,NR_026708,NM_014257,NR_026709,NM_001144905,NM_001144908,NM_001144906,NM_001144907,NM_001144909,NR_026707 CLEC4M,CLEC4M,CLEC4M,CLEC4M,CLEC4M,CLEC4M,CLEC4M,CLEC4M,CLEC4M,CLEC4M,CLEC4M,CLEC4M EXON Missense_V9M,Missense_V9M,Missense_V9M,Silent,Missense_V9M,Silent,Missense_V9M,Missense_V9M,Missense_V9M,Missense_V9M,Missense_V9M,Silent exm1417204 19 7828180 [A/C] NM_001144904,NM_001144911,NM_001144910,NR_026708,NM_014257,NR_026709,NM_001144905,NM_001144908,NM_001144906,NM_001144907,NM_001144909,NR_026707 CLEC4M,CLEC4M,CLEC4M,CLEC4M,CLEC4M,CLEC4M,CLEC4M,CLEC4M,CLEC4M,CLEC4M,CLEC4M,CLEC4M EXON Missense_Q10K,Missense_Q10K,Missense_Q10K,Silent,Missense_Q10K,Silent,Missense_Q10K,Missense_Q10K,Missense_Q10K,Missense_Q10K,Missense_Q10K,Silent exm1417207 19 7828277 [A/G] NM_001144904,NM_001144911,NM_001144910,NR_026708,NM_014257,NR_026709,NM_001144905,NM_001144908,NM_001144906,NM_001144907,NM_001144909,NR_026707 CLEC4M,CLEC4M,CLEC4M,CLEC4M,CLEC4M,CLEC4M,CLEC4M,CLEC4M,CLEC4M,CLEC4M,CLEC4M,CLEC4M Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm1417208 19 7828315 [G/C] NM_001144904,NM_001144911,NM_001144910,NR_026708,NM_014257,NR_026709,NM_001144905,NM_001144908,NM_001144906,NM_001144907,NM_001144909,NR_026707 CLEC4M,CLEC4M,CLEC4M,CLEC4M,CLEC4M,CLEC4M,CLEC4M,CLEC4M,CLEC4M,CLEC4M,CLEC4M,CLEC4M EXON Silent,Silent,Missense_P28R,Silent,Missense_P28R,Silent,Missense_P27R,Missense_P28R,Missense_P28R,Missense_P28R,Missense_P28R,Silent exm1417217 19 7830562 [A/G] NM_001144904,NM_001144911,NM_001144910,NR_026708,NM_014257,NR_026709,NM_001144905,NM_001144908,NM_001144906,NM_001144907,NM_001144909,NR_026707 CLEC4M,CLEC4M,CLEC4M,CLEC4M,CLEC4M,CLEC4M,CLEC4M,CLEC4M,CLEC4M,CLEC4M,CLEC4M,CLEC4M EXON Missense_E57K,Missense_E57K,Missense_E85K,Silent,Missense_E85K,Silent,Missense_E84K,Missense_E85K,Missense_E64K,Missense_E64K,Missense_E85K,Silent exm1417248 19 7831061 [A/G] NM_001144904,NM_001144911,NM_001144910,NR_026708,NM_014257,NR_026709,NM_001144905,NM_001144908,NM_001144906,NM_001144907,NM_001144909,NR_026707 CLEC4M,CLEC4M,CLEC4M,CLEC4M,CLEC4M,CLEC4M,CLEC4M,CLEC4M,CLEC4M,CLEC4M,CLEC4M,CLEC4M EXON Missense_Y200C,Missense_Y223C,Missense_Y228C,Silent,Missense_Y251C,Silent,Missense_Y227C,Silent,Silent,Silent,Missense_Y205C,Silent exm1417250 19 7831075 [A/G] NM_001144904,NM_001144911,NM_001144910,NR_026708,NM_014257,NR_026709,NM_001144905,NM_001144908,NM_001144906,NM_001144907,NM_001144909,NR_026707 CLEC4M,CLEC4M,CLEC4M,CLEC4M,CLEC4M,CLEC4M,CLEC4M,CLEC4M,CLEC4M,CLEC4M,CLEC4M,CLEC4M EXON Missense_D205N,Missense_D228N,Missense_D233N,Silent,Missense_D256N,Silent,Missense_D232N,Silent,Silent,Silent,Missense_D210N,Silent exm1417259 19 7831628 [A/G] NM_001144904,NM_001144911,NM_001144910,NR_026708,NM_014257,NR_026709,NM_001144905,NM_001144908,NM_001144906,NM_001144907,NM_001144909,NR_026707 CLEC4M,CLEC4M,CLEC4M,CLEC4M,CLEC4M,CLEC4M,CLEC4M,CLEC4M,CLEC4M,CLEC4M,CLEC4M,CLEC4M EXON Missense_D240N,Missense_D263N,Missense_D268N,Silent,Missense_D291N,Silent,Missense_D267N,Missense_D199N,Missense_D155N,Missense_D224N,Missense_D245N,Silent exm1417279 19 7833764 [A/G] NM_001144904,NM_001144911,NM_001144910,NR_026708,NM_014257,NR_026709,NM_001144905,NM_001144908,NM_001144906,NM_001144907,NM_001144909,NR_026707 CLEC4M,CLEC4M,CLEC4M,CLEC4M,CLEC4M,CLEC4M,CLEC4M,CLEC4M,CLEC4M,CLEC4M,CLEC4M,CLEC4M EXON Missense_G313R,Silent,Missense_G341R,Silent,Missense_G364R,Silent,Missense_G340R,Silent,Missense_G228R,Missense_G297R,Missense_G318R,Silent exm1417287 19 7833821 [A/G] NM_001144904,NM_001144911,NM_001144910,NR_026708,NM_014257,NR_026709,NM_001144905,NM_001144908,NM_001144906,NM_001144907,NM_001144909,NR_026707 CLEC4M,CLEC4M,CLEC4M,CLEC4M,CLEC4M,CLEC4M,CLEC4M,CLEC4M,CLEC4M,CLEC4M,CLEC4M,CLEC4M EXON Missense_V332I,Silent,Missense_V360I,Silent,Missense_V383I,Silent,Missense_V359I,Silent,Missense_V247I,Missense_V316I,Missense_V337I,Silent exm1417289 19 7833833 [T/C] NM_001144904,NM_001144911,NM_001144910,NR_026708,NM_014257,NR_026709,NM_001144905,NM_001144908,NM_001144906,NM_001144907,NM_001144909,NR_026707 CLEC4M,CLEC4M,CLEC4M,CLEC4M,CLEC4M,CLEC4M,CLEC4M,CLEC4M,CLEC4M,CLEC4M,CLEC4M,CLEC4M EXON Missense_W336R,Silent,Missense_W364R,Silent,Missense_W387R,Silent,Missense_W363R,Silent,Missense_W251R,Missense_W320R,Missense_W341R,Silent exm-rs558718 19 7909883 [A/G] NM_145245 EVI5L Silent exm1417362 19 7927293 [T/A] NM_145245,NM_001159944 EVI5L,EVI5L EXON Missense_L596H,Missense_L607H exm2230470 19 7933962 [A/G] NM_001190467 FLJ22184 EXON Missense_R1333C exm1417415 19 7936208 [A/G] NM_001190467 FLJ22184 EXON Missense_S641P exm1417429 19 7960573 [A/G] NM_001268284,NM_025061,NM_001268285 LRRC8E,LRRC8E,LRRC8E EXON Missense_E29K,Missense_E29K,Silent exm1417432 19 7960601 [T/C] NM_001268284,NM_025061,NM_001268285 LRRC8E,LRRC8E,LRRC8E EXON Missense_I38T,Missense_I38T,Silent exm1417436 19 7963627 [A/C] NM_001268284,NM_025061,NM_001268285 LRRC8E,LRRC8E,LRRC8E EXON Missense_P74T,Missense_P74T,Silent exm2254101 19 7963653 [A/G] NM_001268284,NM_025061,NM_001268285 LRRC8E,LRRC8E,LRRC8E EXON Synonymous_G82G,Synonymous_G82G,Silent exm1417441 19 7963724 [A/G] NM_001268284,NM_025061,NM_001268285 LRRC8E,LRRC8E,LRRC8E EXON Missense_C106Y,Missense_C106Y,Silent exm1417450 19 7963948 [A/G] NM_001268284,NM_025061,NM_001268285 LRRC8E,LRRC8E,LRRC8E EXON Missense_E181K,Missense_E181K,Missense_E52K exm1417471 19 7964312 [A/G] NM_001268284,NM_025061,NM_001268285 LRRC8E,LRRC8E,LRRC8E EXON Missense_N302S,Missense_N302S,Missense_N173S exm1956745 19 7964396 [T/C] NM_001268284,NM_025061,NM_001268285 LRRC8E,LRRC8E,LRRC8E EXON Missense_T330M,Missense_T330M,Missense_T201M exm1417483 19 7964482 [A/G] NM_001268284,NM_025061,NM_001268285 LRRC8E,LRRC8E,LRRC8E EXON Missense_V359I,Missense_V359I,Missense_V230I exm1417487 19 7964608 [A/G] NM_001268284,NM_025061,NM_001268285 LRRC8E,LRRC8E,LRRC8E EXON Missense_E401K,Missense_E401K,Missense_E272K exm1417489 19 7964617 [T/C] NM_001268284,NM_025061,NM_001268285 LRRC8E,LRRC8E,LRRC8E EXON Missense_P404S,Missense_P404S,Missense_P275S exm1417494 19 7964704 [A/G] NM_001268284,NM_025061,NM_001268285 LRRC8E,LRRC8E,LRRC8E EXON Missense_V433I,Missense_V433I,Missense_V304I exm1417496 19 7964768 [C/G] NM_001268284,NM_025061,NM_001268285 LRRC8E,LRRC8E,LRRC8E EXON Missense_P454R,Missense_P454R,Missense_P325R exm1417498 19 7964859 [A/C] NM_001268284,NM_025061,NM_001268285 LRRC8E,LRRC8E,LRRC8E EXON Missense_D484E,Missense_D484E,Missense_D355E exm1417502 19 7964876 [A/G] NM_001268284,NM_025061,NM_001268285 LRRC8E,LRRC8E,LRRC8E EXON Missense_R490H,Missense_R490H,Missense_R361H exm1417509 19 7964945 [A/G] NM_001268284,NM_025061,NM_001268285 LRRC8E,LRRC8E,LRRC8E EXON Missense_H513R,Missense_H513R,Missense_H384R exm1417520 19 7965160 [T/C] NM_001268284,NM_025061,NM_001268285 LRRC8E,LRRC8E,LRRC8E EXON Missense_R585W,Missense_R585W,Missense_R456W exm1417530 19 7965259 [T/C] NM_001268284,NM_025061,NM_001268285 LRRC8E,LRRC8E,LRRC8E EXON Missense_R618C,Missense_R618C,Missense_R489C exm1417532 19 7965296 [A/G] NM_001268284,NM_025061,NM_001268285 LRRC8E,LRRC8E,LRRC8E EXON Missense_R630Q,Missense_R630Q,Missense_R501Q exm1417542 19 7965553 [A/G] NM_001268284,NM_025061,NM_001268285 LRRC8E,LRRC8E,LRRC8E EXON Missense_E716K,Missense_E716K,Missense_E587K exm1417552 19 7965685 [G/C] NM_001268284,NM_025061,NM_001268285 LRRC8E,LRRC8E,LRRC8E EXON Missense_L760V,Missense_L760V,Missense_L631V exm1417559 19 7965776 [A/G] NM_001268284,NM_025061,NM_001268285 LRRC8E,LRRC8E,LRRC8E EXON Missense_R790Q,Missense_R790Q,Missense_R661Q exm2254102 19 7975204 [T/C] NM_145185 MAP2K7 EXON Synonymous_C131C exm1417582 19 7975247 [A/G] NM_145185 MAP2K7 EXON Missense_I146V exm2254103 19 7975658 [A/C] NM_145185 MAP2K7 EXON Synonymous_P215P exm2254104 19 7975960 [T/C] NM_145185 MAP2K7 EXON Synonymous_I257I exm1417627 19 7976417 [A/G] NM_145185 MAP2K7 EXON Missense_G345R exm1417635 19 7977252 [T/C] NM_145185 MAP2K7 EXON Missense_A399V exm1417636 19 7977267 [T/C] NM_145185 MAP2K7 EXON Missense_P404L exm1417649 19 7986372 [T/C] NM_003083,NR_030717 SNAPC2,SNAPC2 EXON Missense_P83L,Silent exm1956826 19 7986398 [T/C] NM_003083,NR_030717 SNAPC2,SNAPC2 EXON Missense_R92W,Silent exm1417654 19 7986401 [A/G] NM_003083,NR_030717 SNAPC2,SNAPC2 EXON Missense_E93K,Silent exm1956827 19 7986600 [T/A] NM_003083,NR_030717 SNAPC2,SNAPC2 EXON Missense_D105V,Silent exm1417656 19 7986601 [A/T] NM_003083,NR_030717 SNAPC2,SNAPC2 EXON Missense_D105E,Silent exm1417659 19 7986623 [T/C] NM_003083,NR_030717 SNAPC2,SNAPC2 EXON Missense_P113S,Silent exm1417660 19 7986638 [G/C] NM_003083,NR_030717 SNAPC2,SNAPC2 EXON Missense_L118V,Silent exm1417663 19 7986651 [A/T] NM_003083,NR_030717 SNAPC2,SNAPC2 EXON Missense_F122Y,Silent exm1417667 19 7986999 [T/C] NM_003083,NR_030717 SNAPC2,SNAPC2 EXON Missense_P151L,Silent exm1417677 19 7987125 [C/G] NM_003083,NR_030717 SNAPC2,SNAPC2 EXON Missense_S193W,Silent exm1417685 19 7987209 [A/G] NM_003083,NR_030717 SNAPC2,SNAPC2 EXON Missense_R221H,Silent exm1417699 19 7987428 [T/C] NM_003083,NR_030717 SNAPC2,SNAPC2 EXON Missense_R262C,Silent exm1417703 19 7987470 [A/G] NM_003083,NR_030717 SNAPC2,SNAPC2 EXON Missense_G276R,Silent exm1417725 19 7992091 [G/C] NM_006351 TIMM44 EXON Missense_S447T exm1417732 19 7992619 [T/C] NM_006351 TIMM44 EXON Missense_V388M exm1417738 19 7992976 [T/C] NM_006351 TIMM44 EXON Missense_I372V exm1417749 19 7997576 [T/G] NM_006351 TIMM44 EXON Missense_P308Q exm1417761 19 7998386 [G/C] NM_006351 TIMM44 EXON Missense_N251K exm1417764 19 7998749 [T/G] NM_006351 TIMM44 EXON Missense_E228A exm1417779 19 7999093 [T/C] NM_006351 TIMM44 EXON Missense_G142S exm2254105 19 8003020 [T/C] NM_006351 TIMM44 EXON Synonymous_K68K exm1417793 19 8003020 [T/C] NM_006351 TIMM44 EXON Synonymous_K68K exm1417794 19 8003021 [T/C] NM_006351 TIMM44 EXON Missense_K68R exm1417796 19 8003040 [T/C] NM_006351 TIMM44 EXON Missense_G62S exm1417803 19 8006006 [A/G] NM_006351 TIMM44 EXON Missense_P41L exm1417809 19 8006070 [T/C] NM_006351 TIMM44 EXON Missense_S20G exm1417850 19 8038656 [T/C] NM_001419 ELAVL1 EXON Missense_R128Q exm2230486 19 8117967 [A/G] NM_001201359,NM_005624 CCL25,CCL25 EXON Missense_G12S,Missense_G12S exm1417869 19 8121074 [A/G] NM_001201359,NM_005624 CCL25,CCL25 EXON Missense_I38V,Missense_I38V exm1417871 19 8121092 [T/C] NM_001201359,NM_005624 CCL25,CCL25 EXON Missense_R44W,Missense_R44W exm1417873 19 8121096 [A/G] NM_001201359,NM_005624 CCL25,CCL25 EXON Missense_R45H,Missense_R45H exm1417876 19 8121110 [T/C] NM_001201359,NM_005624 CCL25,CCL25 EXON Missense_R50W,Missense_R50W exm1417882 19 8121360 [A/G] NM_001201359,NM_005624 CCL25,CCL25 EXON Missense_H101R,Missense_H101R exm1417883 19 8121369 [T/C] NM_001201359,NM_005624 CCL25,CCL25 EXON Missense_T104M,Missense_T104M exm1417893 19 8130867 [T/G] NM_032447 FBN3 EXON Missense_P2789Q exm1417898 19 8130933 [T/C] NM_032447 FBN3 EXON Missense_R2767Q exm1417899 19 8130939 [T/C] NM_032447 FBN3 EXON Missense_R2765Q exm1417907 19 8131003 [T/C] NM_032447 FBN3 EXON Missense_G2744R exm1417912 19 8131027 [A/G] NM_032447 FBN3 EXON Missense_R2736W exm1417919 19 8131069 [A/G] NM_032447 FBN3 EXON Missense_R2722C exm1417931 19 8136991 [T/C] NM_032447 FBN3 EXON Missense_K2677E exm1417935 19 8137050 [A/C] NM_032447 FBN3 EXON Missense_G2657V exm1417938 19 8137069 [T/C] NM_032447 FBN3 EXON Missense_G2651S exm2254107 19 8138000 [T/C] NM_032447 FBN3 EXON Synonymous_T2628T exm1417950 19 8138038 [T/C] NM_032447 FBN3 EXON Missense_G2616R exm1417953 19 8138054 [A/C] NM_032447 FBN3 EXON Missense_E2610D exm1417955 19 8138104 [T/C] NM_032447 FBN3 EXON Missense_V2594I exm1417958 19 8138139 [A/G] NM_032447 FBN3 EXON Missense_A2582V exm1417966 19 8140037 [A/C] NM_032447 FBN3 EXON Missense_H2540Q exm1417967 19 8140047 [T/C] NM_032447 FBN3 EXON Missense_R2537H exm1417972 19 8140187 [T/C] NM_032447 FBN3 EXON Missense_S2521N exm1417974 19 8140232 [A/G] NM_032447 FBN3 EXON Missense_P2506L exm1417978 19 8145904 [T/C] NM_032447 FBN3 EXON Missense_H2479R exm1417980 19 8145928 [T/C] NM_032447 FBN3 EXON Missense_R2471H exm1417981 19 8145929 [A/G] NM_032447 FBN3 EXON Missense_R2471C exm1417982 19 8145935 [T/G] NM_032447 FBN3 EXON Missense_T2469P exm1417995 19 8150277 [A/G] NM_032447 FBN3 EXON Missense_H2353Y exm1417996 19 8150307 [T/C] NM_032447 FBN3 EXON Missense_G2343S exm1418003 19 8150382 [T/C] NM_032447 FBN3 EXON Missense_A2318T exm1418004 19 8150393 [T/C] NM_032447 FBN3 EXON Missense_S2314N exm1418005 19 8150406 [A/G] NM_032447 FBN3 EXON Missense_R2310W exm1418010 19 8151084 [T/C] NM_032447 FBN3 EXON Missense_D2294N exm1957101 19 8151085 [A/G] NM_032447 FBN3 EXON Synonymous_H2293H exm1957102 19 8151095 [A/G] NM_032447 FBN3 EXON Missense_T2290I exm1418012 19 8151132 [C/G] NM_032447 FBN3 EXON Missense_D2278H exm1418014 19 8151137 [T/C] NM_032447 FBN3 EXON Missense_R2276Q exm2254108 19 8151169 [A/G] NM_032447 FBN3 EXON Synonymous_N2265N exm1957113 19 8151993 [T/C] NM_032447 FBN3 EXON Missense_R2241Q exm1418024 19 8151996 [A/G] NM_032447 FBN3 EXON Missense_M2240T exm1418027 19 8152017 [A/G] NM_032447 FBN3 EXON Missense_A2233V exm1418034 19 8152083 [T/C] NM_032447 FBN3 EXON Missense_C2211Y exm1418045 19 8152807 [A/G] NM_032447 FBN3 EXON Missense_P2174L exm1957123 19 8153043 [T/C] NM_032447 FBN3 EXON Missense_G2133S exm1418058 19 8154519 [T/G] NM_032447 FBN3 EXON Missense_T2096P exm1418065 19 8154984 [A/G] NM_032447 FBN3 EXON Synonymous_S2061S exm1418068 19 8155007 [T/C] NM_032447 FBN3 EXON Missense_E2054K exm2275028 19 8155130 [A/G] NM_032447 FBN3 EXON Missense_R2013W exm1418076 19 8156357 [T/C] NM_032447 FBN3 EXON Missense_R2008H exm1418077 19 8156358 [A/G] NM_032447 FBN3 EXON Missense_R2008C exm1418085 19 8159362 [T/G] NM_032447 FBN3 EXON Missense_P1958H exm1418086 19 8159366 [T/G] NM_032447 FBN3 EXON Missense_P1957T exm1418088 19 8159378 [A/G] NM_032447 FBN3 EXON Missense_R1953C exm1418091 19 8159419 [T/G] NM_032447 FBN3 EXON Missense_T1939N exm1418093 19 8159446 [G/C] NM_032447 FBN3 EXON Missense_T1930S exm1418094 19 8160334 [A/G] NM_032447 FBN3 EXON Missense_L1904F exm1418098 19 8160379 [T/C] NM_032447 FBN3 EXON Missense_E1889K exm1418102 19 8160897 [G/C] NM_032447 FBN3 EXON Missense_N1869K exm1418103 19 8160947 [A/G] NM_032447 FBN3 EXON Missense_R1853W exm1418106 19 8161348 [A/G] NM_032447 FBN3 EXON Missense_A1840V exm1418108 19 8161366 [T/C] NM_032447 FBN3 EXON Missense_R1834H exm1418109 19 8161390 [T/C] NM_032447 FBN3 EXON Missense_G1826D exm1418111 19 8161433 [T/C] NM_032447 FBN3 EXON Missense_I1812V exm1418112 19 8161438 [T/C] NM_032447 FBN3 EXON Missense_R1810Q exm1418113 19 8161450 [T/C] NM_032447 FBN3 EXON Missense_R1806Q exm1418115 19 8161777 [T/C] NM_032447 FBN3 EXON Missense_G1801R exm2254109 19 8161778 [A/G] NM_032447 FBN3 EXON Synonymous_G1800G exm1957164 19 8161780 [G/C] NM_032447 FBN3 EXON Missense_G1800R exm1957165 19 8161788 [A/G] NM_032447 FBN3 EXON Missense_L1797P exm1418121 19 8161804 [T/G] NM_032447 FBN3 EXON Missense_T1792P exm1418125 19 8161825 [T/C] NM_032447 FBN3 EXON Missense_G1785S exm1957177 19 8165799 [A/G] NM_032447 FBN3 EXON Missense_T1716M exm1418153 19 8167643 [T/C] NM_032447 FBN3 EXON Missense_N1685S exm1418155 19 8167685 [T/C] NM_032447 FBN3 EXON Missense_R1671Q exm1418167 19 8168538 [T/C] NM_032447 FBN3 EXON Missense_C1616Y exm1418168 19 8168545 [T/C] NM_032447 FBN3 EXON Missense_G1614S exm1418176 19 8171067 [T/C] NM_032447 FBN3 EXON Missense_V1580I exm1418184 19 8173101 [A/G] NM_032447 FBN3 EXON Missense_P1547L exm1418186 19 8174156 [A/G] NM_032447 FBN3 EXON Missense_R1525W exm1418193 19 8174266 [T/C] NM_032447 FBN3 EXON Missense_R1488Q exm1418199 19 8174601 [T/C] NM_032447 FBN3 EXON Missense_N1457S exm1418206 19 8175770 [T/A] NM_032447 FBN3 EXON Missense_N1431I exm1418207 19 8175780 [A/G] NM_032447 FBN3 EXON Missense_C1428R exm1418213 19 8175953 [T/C] NM_032447 FBN3 EXON Missense_R1400Q exm1957208 19 8176044 [T/C] NM_032447 FBN3 EXON Missense_V1370M exm1418221 19 8176050 [T/C] NM_032447 FBN3 EXON Missense_E1368K exm1418225 19 8176568 [A/G] NM_032447 FBN3 EXON Missense_R1350C exm1418230 19 8176640 [T/C] NM_032447 FBN3 EXON Missense_V1326I exm1418236 19 8176945 [T/C] NM_032447 FBN3 EXON Missense_S1293G exm1418238 19 8176947 [T/C] NM_032447 FBN3 EXON Missense_D1292G exm1418244 19 8180486 [A/G] NM_032447 FBN3 EXON Missense_H1251Y exm1418249 19 8181644 [T/C] NM_032447 FBN3 EXON Missense_Q1209R exm1418252 19 8181682 [A/G] NM_032447 FBN3 EXON Synonymous_D1196D exm1418253 19 8182053 [T/C] NM_032447 FBN3 EXON Missense_D1196N exm1418257 19 8182106 [T/C] NM_032447 FBN3 EXON Missense_R1178Q exm1418261 19 8182158 [T/C] NM_032447 FBN3 EXON Missense_V1161I exm1418263 19 8182174 [A/G] NM_032447 FBN3 EXON Synonymous_D1155D exm1418267 19 8182362 [T/C] NM_032447 FBN3 EXON Missense_R1150H exm1418271 19 8182419 [T/C] NM_032447 FBN3 EXON Missense_N1131S exm1418275 19 8182446 [A/C] NM_032447 FBN3 EXON Missense_G1122V exm1418285 19 8183871 [A/G] NM_032447 FBN3 EXON Missense_R1083W exm2254111 19 8186191 [T/C] NM_032447 FBN3 EXON Synonymous_E1054E exm1418299 19 8186249 [A/G] NM_032447 FBN3 EXON Missense_S1035F exm1418301 19 8186255 [A/C] NM_032447 FBN3 EXON Missense_R1033L exm1418312 19 8188682 [T/C] NM_032447 FBN3 EXON Missense_R981Q exm1418323 19 8188812 [T/C] NM_032447 FBN3 EXON Missense_V938I exm1957253 19 8188820 [T/C] NM_032447 FBN3 EXON Missense_R935Q exm1418324 19 8188827 [T/G] NM_032447 FBN3 EXON Missense_K933Q exm1418327 19 8188892 [A/T] NM_032447 FBN3 EXON Missense_D911V exm1418333 19 8190788 [A/G] NM_032447 FBN3 EXON Missense_R907W exm1418337 19 8190829 [T/C] NM_032447 FBN3 EXON Missense_R893H exm1418342 19 8191184 [T/C] NM_032447 FBN3 EXON Missense_D868N exm1418344 19 8191198 [A/G] NM_032447 FBN3 EXON Missense_T863M exm1418367 19 8194147 [T/C] NM_032447 FBN3 EXON Missense_G716D exm1418373 19 8196119 [G/C] NM_032447 FBN3 EXON Missense_D682H exm1418380 19 8196444 [T/C] NM_032447 FBN3 EXON Missense_D662N exm1957287 19 8196488 [A/G] NM_032447 FBN3 EXON Missense_P647L exm1418391 19 8196587 [A/G] NM_032447 FBN3 EXON Missense_T614I exm1418397 19 8196644 [T/C] NM_032447 FBN3 EXON Missense_R595H exm1418398 19 8196645 [A/G] NM_032447 FBN3 EXON Missense_R595C exm1418400 19 8196690 [T/C] NM_032447 FBN3 EXON Missense_G580S exm1418413 19 8197958 [T/C] NM_032447 FBN3 EXON Missense_V542I exm1418416 19 8200844 [T/C] NM_032447 FBN3 Silent exm1418417 19 8200860 [T/C] NM_032447 FBN3 EXON Missense_G526S exm1957293 19 8200925 [T/C] NM_032447 FBN3 EXON Missense_R504H exm1418425 19 8200962 [T/C] NM_032447 FBN3 EXON Missense_E492K exm1418431 19 8201106 [A/G] NM_032447 FBN3 EXON Missense_F478S exm1418432 19 8201121 [T/C] NM_032447 FBN3 EXON Missense_R473Q exm1418434 19 8201152 [A/G] NM_032447 FBN3 EXON Missense_C463R exm1418435 19 8201160 [T/C] NM_032447 FBN3 EXON Missense_H460R exm1418443 19 8201284 [T/C] NM_032447 FBN3 EXON Missense_G445S exm1418447 19 8201298 [A/G] NM_032447 FBN3 EXON Missense_T440I exm1418459 19 8203066 [A/G] NM_032447 FBN3 EXON Missense_A387V exm1418462 19 8203091 [A/G] NM_032447 FBN3 EXON Nonsense_R379X exm1418464 19 8203106 [A/G] NM_032447 FBN3 EXON Missense_P374S exm1418466 19 8203113 [T/C] NM_032447 FBN3 EXON Missense_M371I exm1418467 19 8203114 [A/G] NM_032447 FBN3 EXON Missense_M371T exm1418477 19 8203328 [A/G] NM_032447 FBN3 EXON Missense_P329L exm1418482 19 8203406 [T/C] NM_032447 FBN3 EXON Missense_R303H exm1418483 19 8203413 [A/C] NM_032447 FBN3 EXON Missense_G301W exm1418487 19 8203443 [A/G] NM_032447 FBN3 EXON Missense_R291W exm1418492 19 8206630 [T/C] NM_032447 FBN3 EXON Missense_R279Q exm1418493 19 8206631 [A/G] NM_032447 FBN3 EXON Missense_R279W exm1418494 19 8206634 [A/G] NM_032447 FBN3 EXON Missense_H278Y exm1418498 19 8206710 [A/C] NM_032447 FBN3 EXON Missense_Q252H exm1418502 19 8206847 [T/C] NM_032447 FBN3 EXON Missense_N239S exm1418503 19 8206850 [A/G] NM_032447 FBN3 EXON Missense_P238L exm1418509 19 8206961 [A/G] NM_032447 FBN3 EXON Missense_T201M exm1418513 19 8207016 [A/G] NM_032447 FBN3 EXON Missense_R183W exm1418528 19 8210816 [G/C] NM_032447 FBN3 EXON Missense_G119A exm1418540 19 8212017 [A/G] NM_032447 FBN3 EXON Missense_T74I exm1418544 19 8212063 [T/C] NM_032447 FBN3 EXON Missense_V59M exm1418550 19 8212222 [T/C] NM_032447 FBN3 EXON Missense_R48Q exm1418568 19 8316043 [A/G] NM_024552 CERS4 EXON Missense_R28Q exm1418577 19 8319405 [T/C] NM_024552 CERS4 EXON Missense_R66W exm1418582 19 8319453 [A/G] NM_024552 CERS4 EXON Missense_A82T exm1418595 19 8320555 [A/G] NM_024552 CERS4 EXON Missense_R119Q exm1418597 19 8320563 [T/C] NM_024552 CERS4 EXON Missense_R122W exm1418617 19 8321840 [A/C] NM_024552 CERS4 EXON Missense_K207T exm1418622 19 8321885 [T/C] NM_024552 CERS4 EXON Missense_F222S exm2230502 19 8321897 [T/C] NM_024552 CERS4 EXON Missense_A226V exm2254114 19 8322792 [T/C] NM_024552 CERS4 EXON Synonymous_Y257Y exm1418634 19 8322805 [A/G] NM_024552 CERS4 EXON Missense_D262N exm1418637 19 8322856 [T/C] NM_024552 CERS4 EXON Missense_L279F exm1418648 19 8326672 [A/G] NM_024552 CERS4 EXON Missense_V317M exm1418652 19 8326866 [T/C] NM_024552 CERS4 EXON Missense_A353V exm1418655 19 8326904 [A/G] NM_024552 CERS4 EXON Missense_A366T exm1418657 19 8326944 [A/G] NM_024552 CERS4 EXON Missense_R379Q exm1418665 19 8367424 [A/G] NM_016579,NM_001165895 CD320,CD320 EXON Missense_R258C,Missense_R216C exm1418666 19 8367427 [T/C] NM_016579,NM_001165895 CD320,CD320 EXON Missense_E257K,Missense_E215K exm1418670 19 8367451 [A/G] NM_016579,NM_001165895 CD320,CD320 EXON Missense_L249F,Missense_L207F exm1418682 19 8367709 [T/C] NM_016579,NM_001165895 CD320,CD320 EXON Missense_G220R,Missense_G178R exm1418693 19 8368763 [T/C] NM_016579,NM_001165895 CD320,CD320 EXON Missense_D160N,Missense_D118N exm1957451 19 8368829 [T/G] NM_016579,NM_001165895 CD320,CD320 EXON Missense_R138S,Missense_R96S exm1418697 19 8368855 [A/C] NM_016579,NM_001165895 CD320,CD320 EXON Missense_R129L,Missense_R87L exm1418721 19 8373164 [T/C] NM_016579,NM_001165895 CD320,CD320 EXON Missense_G4D,Missense_G4D exm2254115 19 8376407 [T/C] NM_005001 NDUFA7 EXON Synonymous_S108S exm1418742 19 8381479 [T/C] NM_005001 NDUFA7 EXON Missense_N51S exm1418743 19 8381489 [T/G] NM_005001 NDUFA7 EXON Missense_K48Q exm1418746 19 8381519 [A/G] NM_005001 NDUFA7 EXON Missense_P38S exm1418752 19 8386220 [A/C] NM_005001 NDUFA7 EXON Missense_I8S exm1418762 19 8386862 [C/G] NM_001031 RPS28 EXON Missense_T38R exm1418774 19 8387803 [T/C] NM_198471 KANK3 EXON Missense_E796K exm1418779 19 8389341 [T/C] NM_198471 KANK3 EXON Missense_D792N exm1418781 19 8389344 [A/G] NM_198471 KANK3 EXON Missense_P791S exm1418785 19 8389377 [T/C] NM_198471 KANK3 EXON Missense_A780T exm1418804 19 8389839 [T/C] NM_198471 KANK3 EXON Missense_S693N exm1418819 19 8397910 [A/G] NM_198471 KANK3 EXON Missense_L642F exm1418825 19 8398006 [T/C] NM_198471 KANK3 EXON Missense_E610K exm1418827 19 8398042 [T/C] NM_198471 KANK3 EXON Missense_A598T exm1418839 19 8398961 [A/C] NM_198471 KANK3 EXON Missense_D489E exm1418840 19 8398975 [T/C] NM_198471 KANK3 EXON Missense_A485T exm1418850 19 8399458 [A/G] NM_198471 KANK3 EXON Missense_P418L exm1418902 19 8429323 [A/G] NM_001039667,NM_139314 ANGPTL4,ANGPTL4 EXON Missense_E40K,Missense_E40K exm2230505 19 8430886 [A/G] NM_001039667,NM_139314 ANGPTL4,ANGPTL4 EXON Missense_V123M,Missense_V123M exm1418915 19 8431155 [A/G] NM_001039667,NM_139314 ANGPTL4,ANGPTL4 EXON Missense_E167K,Missense_E167K exm-rs7255436 19 8433196 [A/C] NM_001039667,NM_139314 ANGPTL4,ANGPTL4 Silent,Silent exm1418921 19 8434123 [G/C] NM_001039667,NM_139314 ANGPTL4,ANGPTL4 EXON Silent,Missense_E190Q exm1418926 19 8435966 [T/C] NM_001039667,NM_139314 ANGPTL4,ANGPTL4 EXON Missense_R192C,Missense_R230C exm1418927 19 8435975 [A/G] NM_001039667,NM_139314 ANGPTL4,ANGPTL4 EXON Missense_G195S,Missense_G233S exm1418934 19 8436164 [T/C] NM_001039667,NM_139314 ANGPTL4,ANGPTL4 EXON Missense_T228M,Missense_T266M exm1418937 19 8436200 [A/G] NM_001039667,NM_139314 ANGPTL4,ANGPTL4 EXON Missense_R240Q,Missense_R278Q exm1418944 19 8436328 [A/G] NM_001039667,NM_139314 ANGPTL4,ANGPTL4 EXON Missense_G283S,Missense_G321S exm1418945 19 8436358 [G/C] NM_001039667,NM_139314 ANGPTL4,ANGPTL4 EXON Missense_Q293E,Missense_Q331E exm1418946 19 8436373 [T/C] NM_001039667,NM_139314 ANGPTL4,ANGPTL4 EXON Missense_R298C,Missense_R336C exm1418953 19 8438643 [A/G] NM_001039667,NM_139314 ANGPTL4,ANGPTL4 EXON Missense_R327H,Missense_R365H exm2268176 19 8458145 [A/G] NM_004218 RAB11B Silent exm1418988 19 8468329 [A/G] NM_004218 RAB11B EXON Missense_A182T exm1418995 19 8468401 [A/G] NM_004218 RAB11B EXON Missense_G206R exm-rs2967605 19 8469738 [T/C] exm1419019 19 8486882 [A/G] NM_016496,NM_001005416,NM_001005415 MARCH2,MARCH2,MARCH2 EXON Missense_R53H,Missense_R53H,Missense_R53H exm1419020 19 8486884 [A/G] NM_016496,NM_001005416,NM_001005415 MARCH2,MARCH2,MARCH2 EXON Missense_A54T,Missense_A54T,Missense_A54T exm1419028 19 8491579 [C/G] NM_016496,NM_001005416,NM_001005415 MARCH2,MARCH2,MARCH2 EXON Missense_A88G,Missense_A88G,Missense_A88G exm1419044 19 8495747 [T/C] NM_016496,NM_001005416,NM_001005415 MARCH2,MARCH2,MARCH2 EXON Missense_T193M,Silent,Missense_T193M exm1419055 19 8503410 [A/G] NM_016496,NM_001005416,NM_001005415 MARCH2,MARCH2,MARCH2 EXON Missense_A241T,Missense_A171T,Missense_A241T exm1419059 19 8509905 [T/C] NM_005968,NM_031203 HNRNPM,HNRNPM EXON Missense_A8V,Missense_A8V exm1419063 19 8509965 [T/C] NM_005968,NM_031203 HNRNPM,HNRNPM EXON Missense_P28L,Missense_P28L exm1419129 19 8550756 [A/G] NM_005968,NM_031203 HNRNPM,HNRNPM EXON Missense_G482S,Missense_G443S exm1419165 19 8551161 [A/G] NM_005968,NM_031203 HNRNPM,HNRNPM EXON Missense_A617T,Missense_A578T exm1419169 19 8551203 [A/G] NM_005968,NM_031203 HNRNPM,HNRNPM EXON Missense_G631R,Missense_G592R exm1419193 19 8555109 [A/G] NM_032152 PRAM1 EXON Synonymous_D659D exm1419196 19 8555223 [A/G] NM_032152 PRAM1 EXON Synonymous_C658C exm1419206 19 8555507 [A/T] NM_032152 PRAM1 EXON Missense_E626V exm1419224 19 8556035 [A/G] NM_032152 PRAM1 EXON Missense_A528V exm1419237 19 8563470 [C/G] NM_032152 PRAM1 EXON Missense_P408A exm1419241 19 8563533 [A/G] NM_032152 PRAM1 EXON Missense_S387P exm1419244 19 8563629 [A/G] NM_032152 PRAM1 EXON Missense_R355C exm1419260 19 8563912 [T/G] NM_032152 PRAM1 EXON Missense_S260R exm1419263 19 8563935 [G/C] NM_032152 PRAM1 EXON Missense_P253A exm1419266 19 8563971 [T/C] NM_032152 PRAM1 EXON Missense_V241M exm1419267 19 8563980 [T/C] NM_032152 PRAM1 EXON Missense_K238E exm1419269 19 8564000 [A/G] NM_032152 PRAM1 EXON Missense_P231L exm1419271 19 8564006 [A/G] NM_032152 PRAM1 EXON Missense_P229L exm1419280 19 8564153 [C/G] NM_032152 PRAM1 EXON Missense_P180R exm1419291 19 8564336 [A/G] NM_032152 PRAM1 EXON Missense_P119L exm1419295 19 8564373 [A/G] NM_032152 PRAM1 EXON Missense_P107S exm1419304 19 8564474 [T/G] NM_032152 PRAM1 EXON Missense_P73Q exm1419306 19 8564513 [A/G] NM_032152 PRAM1 EXON Missense_P60L exm1419308 19 8564523 [T/G] NM_032152 PRAM1 EXON Missense_K57Q exm1419316 19 8564647 [G/C] NM_032152 PRAM1 EXON Missense_F15L exm1419317 19 8567475 [T/C] NM_032152 PRAM1 EXON Missense_M1V exm1419331 19 8576420 [A/C] NM_001146175,NM_032370 ZNF414,ZNF414 EXON Missense_G292V,Missense_G292V exm1419340 19 8576629 [T/G] NM_001146175,NM_032370 ZNF414,ZNF414 EXON Missense_P249H,Missense_P249H exm1419363 19 8577545 [T/C] NM_001146175,NM_032370 ZNF414,ZNF414 EXON Missense_V123I,Missense_V123I exm1419364 19 8577556 [T/C] NM_001146175,NM_032370 ZNF414,ZNF414 EXON Missense_S119N,Missense_S119N exm1419378 19 8578081 [A/C] NM_001146175,NM_032370 ZNF414,ZNF414 EXON Missense_A50S,Missense_A50S exm1419399 19 8587293 [T/G] NM_012335 MYO1F EXON Missense_N1063T exm1419404 19 8587372 [A/G] NM_012335 MYO1F EXON Missense_P1037S exm1419406 19 8587401 [T/C] NM_012335 MYO1F EXON Missense_R1027Q exm1419408 19 8587411 [T/C] NM_012335 MYO1F EXON Missense_V1024M exm1419413 19 8587575 [T/C] NM_012335 MYO1F EXON Missense_R998H exm1419417 19 8590368 [C/G] NM_012335 MYO1F EXON Missense_P950R exm1419437 19 8591778 [T/G] NM_012335 MYO1F EXON Missense_A839D exm1419438 19 8591779 [T/C] NM_012335 MYO1F EXON Missense_A839T exm1419442 19 8592235 [T/C] NM_012335 MYO1F EXON Missense_G821R exm1419448 19 8595115 [T/C] NM_012335 MYO1F EXON Missense_A765T exm1419458 19 8595378 [T/A] NM_012335 MYO1F EXON Missense_V708E exm1419477 19 8601851 [T/C] NM_012335 MYO1F EXON Missense_R594Q exm1419482 19 8601927 [T/C] NM_012335 MYO1F EXON Missense_D569N exm1957764 19 8609201 [T/C] NM_012335 MYO1F EXON Missense_I502V exm1419507 19 8610596 [A/G] NM_012335 MYO1F EXON Missense_R432C exm1419521 19 8615049 [T/C] NM_012335 MYO1F EXON Missense_V366M exm2254117 19 8616642 [A/G] NM_012335 MYO1F EXON Synonymous_S251S exm1419542 19 8616659 [T/C] NM_012335 MYO1F EXON Missense_G246S exm1419558 19 8618245 [C/G] NM_012335 MYO1F EXON Missense_E135Q exm1419565 19 8619439 [T/G] NM_012335 MYO1F EXON Missense_P83H exm1419567 19 8619539 [A/G] NM_012335 MYO1F EXON Missense_A77V exm-rs4072910 19 8644031 [C/G] exm1419588 19 8645786 [A/C] NM_030957 ADAMTS10 EXON Missense_H1101Q exm1419589 19 8649788 [T/C] NM_030957 ADAMTS10 EXON Missense_G1065S exm1419612 19 8651052 [T/G] NM_030957 ADAMTS10 EXON Missense_L872M exm1419619 19 8651335 [A/C] NM_030957 ADAMTS10 EXON Missense_L808R exm1419629 19 8651584 [A/G] NM_030957 ADAMTS10 EXON Missense_S754F exm2254118 19 8654354 [A/G] NM_030957 ADAMTS10 EXON Synonymous_C672C exm1419656 19 8654445 [A/G] NM_030957 ADAMTS10 EXON Missense_T642M exm1957854 19 8660758 [T/C] NM_030957 ADAMTS10 EXON Missense_R456Q exm1419688 19 8660785 [A/G] NM_030957 ADAMTS10 EXON Missense_S447L exm1419693 19 8661029 [A/G] NM_030957 ADAMTS10 EXON Missense_A422V exm1419716 19 8665906 [T/C] NM_030957 ADAMTS10 EXON Missense_R239H exm1419719 19 8665945 [T/C] NM_030957 ADAMTS10 EXON Missense_R226H exm1419720 19 8665979 [A/G] NM_030957 ADAMTS10 EXON Missense_P215S exm1419724 19 8668617 [A/T] NM_030957 ADAMTS10 EXON Missense_V196E exm1419728 19 8668698 [T/C] NM_030957 ADAMTS10 EXON Missense_R169Q exm1419742 19 8669931 [G/C] NM_030957 ADAMTS10 EXON Missense_T134S exm1419746 19 8669982 [A/G] NM_030957 ADAMTS10 EXON Missense_A117V exm1419750 19 8670045 [T/C] NM_030957 ADAMTS10 EXON Missense_R96H exm1419752 19 8670087 [A/G] NM_030957 ADAMTS10 EXON Missense_S82L exm1419754 19 8670115 [T/C] NM_030957 ADAMTS10 EXON Missense_E73K exm-rs7249094 19 8672000 [A/G] NM_030957 ADAMTS10 Silent exm1419773 19 8807850 [A/T] NM_178525 ACTL9 EXON Missense_E401V exm1419774 19 8807853 [T/C] NM_178525 ACTL9 EXON Missense_R400Q exm1419783 19 8808111 [T/C] NM_178525 ACTL9 EXON Missense_G314D exm1419791 19 8808240 [G/C] NM_178525 ACTL9 EXON Missense_R271P exm1419793 19 8808271 [T/C] NM_178525 ACTL9 EXON Missense_V261M exm1419794 19 8808296 [C/G] NM_178525 ACTL9 EXON Missense_E252D exm1419798 19 8808373 [T/G] NM_178525 ACTL9 EXON Missense_H227N exm1419806 19 8808476 [G/C] NM_178525 ACTL9 EXON Missense_S192R exm1419807 19 8808487 [T/C] NM_178525 ACTL9 EXON Missense_G189S exm1419820 19 8808745 [A/G] NM_178525 ACTL9 EXON Missense_R103C exm1957993 19 8808822 [T/G] NM_178525 ACTL9 EXON Missense_T77N exm1419826 19 8808826 [A/C] NM_178525 ACTL9 EXON Missense_A76S exm1419834 19 8808900 [A/G] NM_178525 ACTL9 EXON Missense_V51A exm1419837 19 8808942 [A/G] NM_178525 ACTL9 EXON Missense_F37S exm1419844 19 8841391 [A/G] NM_001004699 OR2Z1 EXON Missense_M1V exm1419849 19 8841461 [A/G] NM_001004699 OR2Z1 EXON Missense_R24H exm1419852 19 8841550 [T/C] NM_001004699 OR2Z1 EXON Missense_R54W exm1419856 19 8841583 [T/C] NM_001004699 OR2Z1 EXON Nonsense_Q65X exm1419860 19 8841640 [A/G] NM_001004699 OR2Z1 EXON Missense_D84N exm1419862 19 8841693 [A/G] NM_001004699 OR2Z1 EXON Missense_I101M exm1419865 19 8841727 [A/G] NM_001004699 OR2Z1 EXON Missense_V113I exm1419867 19 8841793 [T/C] NM_001004699 OR2Z1 EXON Missense_L135F exm1419868 19 8841802 [T/C] NM_001004699 OR2Z1 EXON Missense_R138C exm1419875 19 8841863 [A/T] NM_001004699 OR2Z1 EXON Missense_I158N exm1419878 19 8841964 [A/T] NM_001004699 OR2Z1 EXON Missense_T192S exm1419883 19 8842043 [A/G] NM_001004699 OR2Z1 EXON Missense_Y218C exm1419886 19 8842138 [A/C] NM_001004699 OR2Z1 EXON Missense_L250I exm1419889 19 8842168 [A/C] NM_001004699 OR2Z1 EXON Missense_M260L exm1419891 19 8842187 [A/G] NM_001004699 OR2Z1 EXON Missense_H266R exm1419901 19 8922057 [T/G] NM_144693 ZNF558 EXON Missense_H370P exm1419906 19 8922198 [T/C] NM_144693 ZNF558 EXON Missense_N323S exm1419911 19 8922441 [A/G] NM_144693 ZNF558 EXON Missense_F242S exm1419917 19 8922721 [T/C] NM_144693 ZNF558 EXON Missense_V149M exm1419918 19 8922726 [T/C] NM_144693 ZNF558 EXON Missense_R147H exm1419919 19 8922729 [T/C] NM_144693 ZNF558 EXON Missense_H146R exm1419921 19 8923238 [A/G] NM_144693 ZNF558 EXON Missense_T142M exm1419925 19 8923812 [T/G] NM_144693 ZNF558 EXON Missense_T112P exm1419929 19 8923892 [T/C] NM_144693 ZNF558 EXON Missense_R85H exm1419960 19 8953484 [T/C] NM_145208 MBD3L1 EXON Missense_P44S exm1419967 19 8953712 [T/C] NM_145208 MBD3L1 EXON Missense_P120S exm1419973 19 8953799 [A/G] NM_145208 MBD3L1 EXON Missense_V149I exm1419982 19 8953917 [A/G] NM_145208 MBD3L1 EXON Missense_E188G exm1419983 19 8953922 [T/C] NM_145208 MBD3L1 EXON Missense_R190C exm1419987 19 8959693 [A/C] NM_024690 MUC16 EXON Missense_R14480L exm1419991 19 8961960 [T/C] NM_024690 MUC16 EXON Missense_G14473S exm1419993 19 8961974 [A/G] NM_024690 MUC16 EXON Missense_T14468I exm1419995 19 8961981 [C/G] NM_024690 MUC16 EXON Missense_V14466L exm1419998 19 8962389 [A/G] NM_024690 MUC16 EXON Missense_S14437F exm1420001 19 8966706 [T/C] NM_024690 MUC16 EXON Missense_R14416Q exm1420010 19 8968932 [A/G] NM_024690 MUC16 EXON Nonsense_R14362X exm1420012 19 8969277 [A/G] NM_024690 MUC16 EXON Missense_A14356V exm1420014 19 8969344 [A/G] NM_024690 MUC16 EXON Missense_Y14334H exm1420017 19 8971686 [G/C] NM_024690 MUC16 EXON Missense_I14302M exm1420026 19 8973559 [T/C] NM_024690 MUC16 EXON Missense_T14253A exm1420031 19 8973988 [T/C] NM_024690 MUC16 EXON Missense_R14228K exm1420042 19 8976432 [T/C] NM_024690 MUC16 EXON Synonymous_R14132R exm1420047 19 8976855 [T/C] NM_024690 MUC16 EXON Missense_G14071R exm1420050 19 8977664 [T/G] NM_024690 MUC16 EXON Missense_P14061T exm1420052 19 8979223 [G/C] NM_024690 MUC16 EXON Missense_P14050A exm1420056 19 8982193 [T/G] NM_024690 MUC16 EXON Missense_P14028T exm1420061 19 8982230 [A/C] NM_024690 MUC16 EXON Missense_E14015D exm1420063 19 8982271 [A/G] NM_024690 MUC16 EXON Missense_L14002F exm1420065 19 8982303 [T/C] NM_024690 MUC16 EXON Missense_R13991Q exm1420066 19 8982304 [A/G] NM_024690 MUC16 EXON Missense_R13991W exm1420069 19 8987052 [T/C] NM_024690 MUC16 EXON Missense_A13980T exm1420074 19 8987218 [T/G] NM_024690 MUC16 EXON Missense_Q13957K exm1420075 19 8987281 [A/G] NM_024690 MUC16 EXON Missense_R13936C exm1420078 19 8993008 [C/G] NM_024690 MUC16 EXON Missense_S13917R exm1420079 19 8993018 [A/G] NM_024690 MUC16 EXON Missense_P13914L exm1420101 19 8993493 [T/G] NM_024690 MUC16 EXON Missense_P13866T exm1420108 19 8994484 [T/C] NM_024690 MUC16 EXON Missense_R13803Q exm1420112 19 8995674 [T/C] NM_024690 MUC16 EXON Missense_G13772R exm1420121 19 8996380 [A/G] NM_024690 MUC16 EXON Missense_T13731I exm1420128 19 8996460 [A/C] NM_024690 MUC16 EXON Missense_D13704E exm1420130 19 8997119 [T/C] NM_024690 MUC16 EXON Missense_R13693G exm1420131 19 8997148 [A/G] NM_024690 MUC16 EXON Missense_L13683P exm1420138 19 8997530 [A/C] NM_024690 MUC16 EXON Missense_S13631I exm1420142 19 8999030 [T/G] NM_024690 MUC16 EXON Missense_T13605N exm1420144 19 8999060 [A/C] NM_024690 MUC16 EXON Missense_G13595V exm1420148 19 8999395 [T/C] NM_024690 MUC16 EXON Missense_N13594D exm1420149 19 8999412 [T/C] NM_024690 MUC16 EXON Missense_R13588K exm1420186 19 9000559 [T/G] NM_024690 MUC16 EXON Missense_S13475R exm1420192 19 9001833 [A/G] NM_024690 MUC16 EXON Missense_M13472T exm1420195 19 9001869 [A/G] NM_024690 MUC16 EXON Missense_A13460V exm1420208 19 9002577 [T/C] NM_024690 MUC16 EXON Nonsense_W13413X exm1420218 19 9002659 [T/C] NM_024690 MUC16 EXON Missense_G13386E exm1420231 19 9003618 [T/C] NM_024690 MUC16 EXON Missense_R13341H exm1420234 19 9003645 [A/G] NM_024690 MUC16 EXON Missense_T13332I exm1420259 19 9005694 [T/C] NM_024690 MUC16 EXON Missense_I13238V exm1420273 19 9006657 [A/C] NM_024690 MUC16 EXON Missense_S13197R exm1420275 19 9006664 [A/G] NM_024690 MUC16 EXON Missense_T13195M exm1420283 19 9006749 [T/C] NM_024690 MUC16 EXON Missense_V13167M exm1420284 19 9006766 [A/G] NM_024690 MUC16 EXON Missense_T13161I exm1420286 19 9007489 [T/G] NM_024690 MUC16 EXON Missense_T13160K exm1420288 19 9007502 [T/C] NM_024690 MUC16 EXON Missense_V13156I exm1420294 19 9007832 [T/C] NM_024690 MUC16 EXON Missense_R13131Q exm1420296 19 9008179 [T/C] NM_024690 MUC16 EXON Missense_V13125I exm1420303 19 9008277 [A/G] NM_024690 MUC16 EXON Missense_P13092L exm1420309 19 9009276 [A/G] NM_024690 MUC16 EXON Missense_I13066T exm1420322 19 9009640 [T/C] NM_024690 MUC16 EXON Missense_R13029H exm1420350 19 9011460 [T/C] NM_024690 MUC16 EXON Missense_A12925T exm1420361 19 9012820 [A/G] NM_024690 MUC16 EXON Missense_P12875L exm1420478 19 9020771 [T/G] NM_024690 MUC16 EXON Missense_S12444Y exm1420481 19 9020790 [A/C] NM_024690 MUC16 EXON Missense_S12438A exm1420484 19 9020811 [T/A] NM_024690 MUC16 EXON Missense_T12431S exm1420491 19 9021092 [T/C] NM_024690 MUC16 EXON Missense_R12411G exm1420503 19 9024871 [T/C] NM_024690 MUC16 EXON Missense_E12331K exm1420513 19 9024994 [T/C] NM_024690 MUC16 EXON Missense_E12290K exm1420518 19 9025639 [T/C] NM_024690 MUC16 EXON Missense_N12272S exm1420520 19 9025654 [T/G] NM_024690 MUC16 EXON Missense_K12267T exm1420523 19 9026204 [T/A] NM_024690 MUC16 EXON Missense_V12261D exm1420524 19 9026205 [A/C] NM_024690 MUC16 EXON Missense_V12261F exm1420525 19 9026216 [G/C] NM_024690 MUC16 EXON Missense_T12257S exm1420526 19 9026235 [T/C] NM_024690 MUC16 EXON Missense_G12251S exm1420528 19 9026247 [T/C] NM_024690 MUC16 EXON Missense_M12247V exm1420531 19 9026309 [T/C] NM_024690 MUC16 EXON Missense_G12226D exm1420533 19 9026312 [C/G] NM_024690 MUC16 EXON Missense_A12225G exm1420538 19 9027563 [T/C] NM_024690 MUC16 EXON Missense_R12194Q exm1420540 19 9028242 [T/C] NM_024690 MUC16 EXON Missense_N12184D exm1420545 19 9028326 [T/C] NM_024690 MUC16 EXON Missense_G12156R exm1420546 19 9028340 [T/A] NM_024690 MUC16 EXON Missense_D12151V exm1420550 19 9028373 [A/G] NM_024690 MUC16 EXON Missense_T12140M exm1420580 19 9038385 [A/G] NM_024690 MUC16 EXON Missense_T12045I exm1420581 19 9038406 [A/C] NM_024690 MUC16 EXON Missense_R12038L exm1420599 19 9045821 [A/G] NM_024690 MUC16 EXON Missense_T11937I exm1420601 19 9045897 [T/G] NM_024690 MUC16 EXON Missense_P11912T exm1420617 19 9046211 [T/C] NM_024690 MUC16 EXON Missense_G11807D exm1420618 19 9046271 [A/G] NM_024690 MUC16 EXON Missense_P11787L exm1420620 19 9046305 [T/G] NM_024690 MUC16 EXON Missense_T11776P exm1420627 19 9046601 [T/C] NM_024690 MUC16 EXON Missense_R11677Q exm1420636 19 9046790 [A/G] NM_024690 MUC16 EXON Missense_T11614M exm1420639 19 9046876 [T/G] NM_024690 MUC16 EXON Missense_S11585R exm1420655 19 9047147 [T/G] NM_024690 MUC16 EXON Missense_P11495H exm1420660 19 9047267 [T/C] NM_024690 MUC16 EXON Missense_G11455D exm1958270 19 9047279 [T/G] NM_024690 MUC16 EXON Missense_P11451H exm1420674 19 9047639 [T/C] NM_024690 MUC16 EXON Missense_S11331N exm1420678 19 9047732 [T/C] NM_024690 MUC16 EXON Missense_E11300G exm1420693 19 9047964 [A/G] NM_024690 MUC16 EXON Missense_S11223P exm1420695 19 9047997 [T/C] NM_024690 MUC16 EXON Missense_V11212I exm1420697 19 9048035 [C/G] NM_024690 MUC16 EXON Missense_A11199G exm1420699 19 9048093 [T/C] NM_024690 MUC16 EXON Missense_T11180A exm1420701 19 9048170 [A/G] NM_024690 MUC16 EXON Missense_S11154F exm1420704 19 9048281 [T/G] NM_024690 MUC16 EXON Missense_T11117N exm1420707 19 9048320 [T/C] NM_024690 MUC16 EXON Missense_S11104N exm1420708 19 9048335 [T/G] NM_024690 MUC16 EXON Missense_T11099N exm1420710 19 9048342 [T/C] NM_024690 MUC16 EXON Missense_V11097M exm1420732 19 9048809 [A/G] NM_024690 MUC16 EXON Missense_S10941F exm1420736 19 9048895 [A/C] NM_024690 MUC16 EXON Missense_S10912R exm1420737 19 9048912 [A/G] NM_024690 MUC16 EXON Missense_P10907S exm1420745 19 9049149 [A/G] NM_024690 MUC16 EXON Missense_P10828S exm1420747 19 9049224 [T/C] NM_024690 MUC16 EXON Missense_K10803E exm1420750 19 9049260 [A/G] NM_024690 MUC16 EXON Missense_R10791W exm1420756 19 9049322 [A/G] NM_024690 MUC16 EXON Missense_T10770I exm1420761 19 9049398 [T/C] NM_024690 MUC16 EXON Missense_G10745R exm1420765 19 9049521 [T/G] NM_024690 MUC16 EXON Missense_H10704N exm1420767 19 9049536 [A/G] NM_024690 MUC16 EXON Missense_P10699S exm1420771 19 9049638 [T/A] NM_024690 MUC16 EXON Missense_T10665S exm1420773 19 9049655 [A/G] NM_024690 MUC16 EXON Missense_S10659L exm1420774 19 9049665 [C/G] NM_024690 MUC16 EXON Missense_V10656L exm1420777 19 9049725 [T/C] NM_024690 MUC16 EXON Missense_V10636I exm1420779 19 9049745 [A/G] NM_024690 MUC16 EXON Missense_A10629V exm1420783 19 9049809 [A/G] NM_024690 MUC16 EXON Missense_P10608S exm1420787 19 9049910 [T/C] NM_024690 MUC16 EXON Missense_R10574H exm1420791 19 9049991 [A/G] NM_024690 MUC16 EXON Missense_A10547V exm1420794 19 9050073 [T/G] NM_024690 MUC16 EXON Missense_P10520T exm1420795 19 9050081 [T/C] NM_024690 MUC16 EXON Missense_S10517N exm1420797 19 9050111 [T/G] NM_024690 MUC16 EXON Missense_T10507N exm1420800 19 9050219 [T/C] NM_024690 MUC16 EXON Missense_R10471K exm1420806 19 9054279 [C/G] NM_024690 MUC16 EXON Missense_P10448R exm1420808 19 9056232 [A/T] NM_024690 MUC16 EXON Missense_V10405D exm1420809 19 9056233 [T/C] NM_024690 MUC16 EXON Missense_V10405I exm1420820 19 9056616 [A/G] NM_024690 MUC16 EXON Missense_T10277I exm1420832 19 9056941 [A/G] NM_024690 MUC16 EXON Missense_F10169L exm1420836 19 9056982 [A/G] NM_024690 MUC16 EXON Missense_T10155I exm1420837 19 9056989 [G/C] NM_024690 MUC16 EXON Missense_E10153Q exm1420839 19 9057037 [A/C] NM_024690 MUC16 EXON Missense_S10137A exm2254123 19 9057038 [A/G] NM_024690 MUC16 EXON Synonymous_P10136P exm1420844 19 9057094 [A/G] NM_024690 MUC16 EXON Missense_S10118P exm1420850 19 9057177 [T/G] NM_024690 MUC16 EXON Missense_T10090N exm1420855 19 9057321 [A/C] NM_024690 MUC16 EXON Missense_S10042I exm1420858 19 9057408 [A/G] NM_024690 MUC16 EXON Missense_L10013P exm1420859 19 9057436 [A/G] NM_024690 MUC16 EXON Missense_P10004S exm1420861 19 9057468 [T/A] NM_024690 MUC16 EXON Missense_H9993L exm1420865 19 9057561 [T/G] NM_024690 MUC16 EXON Missense_S9962Y exm1420874 19 9057687 [A/G] NM_024690 MUC16 EXON Missense_I9920T exm1420878 19 9057721 [T/C] NM_024690 MUC16 EXON Missense_V9909I exm1420881 19 9057750 [T/A] NM_024690 MUC16 EXON Missense_Y9899F exm1420882 19 9057780 [T/G] NM_024690 MUC16 EXON Missense_T9889N exm1420887 19 9057896 [G/C] NM_024690 MUC16 EXON Missense_D9850E exm1420890 19 9057930 [A/G] NM_024690 MUC16 EXON Missense_T9839I exm1420891 19 9057936 [A/G] NM_024690 MUC16 EXON Missense_T9837I exm1420907 19 9058340 [T/C] NM_024690 MUC16 EXON Missense_M9702I exm2276599 19 9058351 [A/G] NM_024690 MUC16 EXON Missense_H9699Y exm2254124 19 9058573 [T/G] NM_024690 MUC16 EXON Synonymous_R9625R exm1420921 19 9058593 [T/G] NM_024690 MUC16 EXON Missense_T9618K exm1420924 19 9058624 [A/G] NM_024690 MUC16 EXON Missense_P9608S exm1420932 19 9058855 [T/C] NM_024690 MUC16 EXON Missense_E9531K exm1420933 19 9058888 [T/C] NM_024690 MUC16 EXON Missense_A9520T exm1420938 19 9058942 [T/C] NM_024690 MUC16 EXON Missense_A9502T exm1420942 19 9058996 [G/C] NM_024690 MUC16 EXON Missense_P9484A exm1420955 19 9059181 [A/G] NM_024690 MUC16 EXON Missense_P9422L exm1420958 19 9059232 [T/C] NM_024690 MUC16 EXON Missense_Q9405R exm1420961 19 9059307 [T/C] NM_024690 MUC16 EXON Missense_G9380D exm1420969 19 9059415 [T/C] NM_024690 MUC16 EXON Missense_D9344G exm1420978 19 9059655 [T/G] NM_024690 MUC16 EXON Missense_N9264T exm1420984 19 9059761 [T/C] NM_024690 MUC16 EXON Missense_V9229I exm1420985 19 9059763 [A/G] NM_024690 MUC16 EXON Missense_V9228A exm1420988 19 9059799 [T/A] NM_024690 MUC16 EXON Missense_V9216D exm1420989 19 9059808 [A/G] NM_024690 MUC16 EXON Missense_I9213T exm1420990 19 9059827 [A/G] NM_024690 MUC16 EXON Missense_S9207P exm1420999 19 9060059 [A/C] NM_024690 MUC16 EXON Missense_D9129E exm1421005 19 9060118 [A/C] NM_024690 MUC16 EXON Missense_A9110S exm1421014 19 9060420 [A/G] NM_024690 MUC16 EXON Missense_T9009I exm1421016 19 9060439 [A/T] NM_024690 MUC16 EXON Missense_T9003S exm1421020 19 9060541 [T/C] NM_024690 MUC16 EXON Missense_V8969M exm2254125 19 9060572 [A/G] NM_024690 MUC16 EXON Synonymous_G8958G exm1421024 19 9060604 [A/C] NM_024690 MUC16 EXON Missense_A8948S exm1421030 19 9060684 [T/G] NM_024690 MUC16 EXON Missense_A8921D exm1421033 19 9060774 [A/G] NM_024690 MUC16 EXON Missense_M8891T exm1421038 19 9060915 [T/C] NM_024690 MUC16 EXON Missense_R8844H exm1421045 19 9061008 [A/G] NM_024690 MUC16 EXON Missense_P8813L exm1421049 19 9061053 [A/G] NM_024690 MUC16 EXON Missense_S8798L exm1421052 19 9061080 [C/G] NM_024690 MUC16 EXON Missense_P8789R exm1421055 19 9061111 [T/C] NM_024690 MUC16 EXON Missense_T8779A exm1421057 19 9061152 [A/G] NM_024690 MUC16 EXON Missense_I8765T exm1421064 19 9061351 [T/C] NM_024690 MUC16 EXON Missense_M8699V exm1421074 19 9061537 [T/C] NM_024690 MUC16 EXON Missense_E8637K exm1421077 19 9061560 [A/G] NM_024690 MUC16 EXON Missense_T8629M exm1421078 19 9061630 [A/G] NM_024690 MUC16 EXON Missense_R8606C exm1421105 19 9062166 [A/G] NM_024690 MUC16 EXON Missense_I8427T exm1421121 19 9062415 [T/G] NM_024690 MUC16 EXON Missense_D8344A exm1421124 19 9062544 [T/G] NM_024690 MUC16 EXON Missense_N8301T exm2230553 19 9062614 [A/G] NM_024690 MUC16 EXON Missense_P8278S exm1421131 19 9062622 [A/G] NM_024690 MUC16 EXON Missense_T8275M exm1421138 19 9062759 [C/G] NM_024690 MUC16 EXON Missense_H8229Q exm1421141 19 9062847 [A/G] NM_024690 MUC16 EXON Missense_I8200T exm2276600 19 9062860 [A/C] NM_024690 MUC16 EXON Missense_A8196S exm1421145 19 9063032 [T/C] NM_024690 MUC16 EXON Missense_M8138I exm1421163 19 9063571 [A/G] NM_024690 MUC16 EXON Missense_W7959R exm1421168 19 9063663 [T/G] NM_024690 MUC16 EXON Missense_T7928N exm1421170 19 9063678 [T/G] NM_024690 MUC16 EXON Missense_D7923A exm1958320 19 9063784 [T/C] NM_024690 MUC16 EXON Missense_V7888I exm1421183 19 9063892 [A/G] NM_024690 MUC16 EXON Missense_L7852F exm1421192 19 9064029 [A/G] NM_024690 MUC16 EXON Missense_T7806I exm1421203 19 9064372 [A/G] NM_024690 MUC16 EXON Missense_S7692P exm1421211 19 9064555 [T/C] NM_024690 MUC16 EXON Missense_T7631A exm1421220 19 9064698 [T/C] NM_024690 MUC16 EXON Missense_S7583N exm1421225 19 9064772 [T/A] NM_024690 MUC16 EXON Missense_E7558D exm1421227 19 9064825 [T/C] NM_024690 MUC16 EXON Missense_T7541A exm1421234 19 9064986 [A/G] NM_024690 MUC16 EXON Missense_S7487F exm1421240 19 9065094 [A/C] NM_024690 MUC16 EXON Missense_L7451W exm1421243 19 9065203 [T/C] NM_024690 MUC16 EXON Missense_S7415G exm1421246 19 9065307 [T/C] NM_024690 MUC16 EXON Missense_R7380Q exm1421249 19 9065404 [T/C] NM_024690 MUC16 EXON Missense_T7348A exm1421255 19 9065518 [T/C] NM_024690 MUC16 EXON Missense_I7310V exm1421256 19 9065551 [T/C] NM_024690 MUC16 EXON Missense_M7299V exm1421259 19 9065596 [T/C] NM_024690 MUC16 EXON Missense_T7284A exm1421260 19 9065632 [T/C] NM_024690 MUC16 EXON Missense_I7272V exm1421261 19 9065664 [A/G] NM_024690 MUC16 EXON Missense_I7261T exm1421264 19 9065746 [T/C] NM_024690 MUC16 EXON Missense_S7234G exm1421273 19 9065890 [T/C] NM_024690 MUC16 EXON Missense_V7186M exm1421278 19 9066001 [T/C] NM_024690 MUC16 EXON Missense_T7149A exm1421283 19 9066045 [A/G] NM_024690 MUC16 EXON Missense_P7134L exm1421285 19 9066076 [A/G] NM_024690 MUC16 EXON Missense_L7124F exm1421289 19 9066132 [A/G] NM_024690 MUC16 EXON Missense_T7105I exm1421290 19 9066140 [T/G] NM_024690 MUC16 EXON Missense_L7102F exm1421293 19 9066259 [T/C] NM_024690 MUC16 EXON Missense_T7063A exm1421302 19 9066390 [A/G] NM_024690 MUC16 EXON Missense_S7019L exm1421305 19 9066495 [A/G] NM_024690 MUC16 EXON Missense_S6984F exm1421312 19 9066658 [T/C] NM_024690 MUC16 EXON Missense_T6930A exm1421314 19 9066681 [T/G] NM_024690 MUC16 EXON Missense_T6922N exm1421319 19 9066716 [T/A] NM_024690 MUC16 EXON Missense_K6910N exm1421321 19 9066759 [T/G] NM_024690 MUC16 EXON Missense_S6896Y exm1421327 19 9066874 [T/G] NM_024690 MUC16 EXON Missense_P6858T exm1421330 19 9067018 [G/C] NM_024690 MUC16 EXON Missense_A6810P exm1421335 19 9067066 [A/G] NM_024690 MUC16 EXON Missense_P6794S exm1421341 19 9067149 [A/G] NM_024690 MUC16 EXON Missense_S6766L exm1421347 19 9067344 [A/G] NM_024690 MUC16 EXON Missense_I6701T exm1421349 19 9067359 [A/G] NM_024690 MUC16 EXON Missense_S6696F exm1421353 19 9067504 [T/C] NM_024690 MUC16 EXON Missense_E6648K exm1421358 19 9067635 [T/G] NM_024690 MUC16 EXON Missense_K6604T exm1421367 19 9067890 [T/G] NM_024690 MUC16 EXON Missense_A6519E exm1421371 19 9067935 [T/G] NM_024690 MUC16 EXON Missense_S6504Y exm1421380 19 9068085 [A/G] NM_024690 MUC16 EXON Missense_A6454V exm1421385 19 9068115 [A/G] NM_024690 MUC16 EXON Missense_T6444I exm1421393 19 9068364 [A/G] NM_024690 MUC16 EXON Missense_T6361I exm1421395 19 9068374 [A/G] NM_024690 MUC16 EXON Missense_S6358P exm2230561 19 9068436 [T/G] NM_024690 MUC16 EXON Missense_T6337N exm1421400 19 9068458 [T/A] NM_024690 MUC16 EXON Missense_S6330T exm1421403 19 9068530 [T/C] NM_024690 MUC16 EXON Missense_V6306M exm1958348 19 9068577 [A/G] NM_024690 MUC16 EXON Missense_T6290I exm1421406 19 9068601 [T/G] NM_024690 MUC16 EXON Missense_T6282N exm1421407 19 9068625 [C/G] NM_024690 MUC16 EXON Missense_R6274P exm1421421 19 9068964 [A/G] NM_024690 MUC16 EXON Missense_P6161L exm1421424 19 9068980 [A/C] NM_024690 MUC16 EXON Missense_A6156S exm1421425 19 9068990 [T/G] NM_024690 MUC16 EXON Missense_H6152Q exm1421433 19 9069183 [T/C] NM_024690 MUC16 EXON Missense_N6088S exm1421437 19 9069289 [T/C] NM_024690 MUC16 EXON Missense_V6053I exm1421438 19 9069303 [A/G] NM_024690 MUC16 EXON Missense_M6048T exm1421439 19 9069304 [T/C] NM_024690 MUC16 EXON Missense_M6048V exm1421442 19 9069368 [T/A] NM_024690 MUC16 EXON Missense_H6026Q exm1421444 19 9069507 [T/G] NM_024690 MUC16 EXON Missense_T5980N exm1421448 19 9069568 [A/G] NM_024690 MUC16 EXON Missense_L5960F exm1421451 19 9069585 [A/G] NM_024690 MUC16 EXON Missense_A5954V exm1421453 19 9069660 [A/G] NM_024690 MUC16 EXON Missense_S5929F exm1421455 19 9069792 [A/G] NM_024690 MUC16 EXON Missense_S5885F exm2254126 19 9069818 [A/G] NM_024690 MUC16 EXON Synonymous_L5876L exm1421457 19 9069823 [T/C] NM_024690 MUC16 EXON Missense_T5875A exm1421458 19 9069825 [T/G] NM_024690 MUC16 EXON Missense_A5874D exm1421461 19 9069869 [T/C] NM_024690 MUC16 EXON Missense_M5859I exm1421462 19 9069892 [A/C] NM_024690 MUC16 EXON Missense_F5852V exm1421464 19 9069912 [A/G] NM_024690 MUC16 EXON Missense_T5845I exm1421478 19 9070152 [A/G] NM_024690 MUC16 EXON Missense_P5765L exm1421480 19 9070186 [T/C] NM_024690 MUC16 EXON Missense_A5754T exm1421481 19 9070194 [A/G] NM_024690 MUC16 EXON Missense_I5751T exm1421483 19 9070233 [T/G] NM_024690 MUC16 EXON Missense_A5738D exm1421484 19 9070249 [T/G] NM_024690 MUC16 EXON Missense_Q5733K exm1421485 19 9070264 [A/C] NM_024690 MUC16 EXON Missense_S5728A exm1421499 19 9070458 [A/C] NM_024690 MUC16 EXON Missense_L5663R exm1421505 19 9070720 [A/C] NM_024690 MUC16 EXON Missense_S5576A exm1421510 19 9070837 [A/G] NM_024690 MUC16 EXON Missense_P5537S exm1421513 19 9070873 [A/G] NM_024690 MUC16 EXON Missense_S5525P exm1421517 19 9070912 [A/G] NM_024690 MUC16 EXON Missense_P5512S exm1421527 19 9071179 [T/C] NM_024690 MUC16 EXON Missense_A5423T exm1421535 19 9071401 [A/G] NM_024690 MUC16 EXON Missense_P5349S exm1421559 19 9071905 [T/C] NM_024690 MUC16 EXON Missense_K5181E exm1421561 19 9071916 [A/G] NM_024690 MUC16 EXON Missense_T5177I exm1421572 19 9072313 [A/G] NM_024690 MUC16 EXON Missense_S5045P exm1421577 19 9072471 [T/C] NM_024690 MUC16 EXON Missense_D4992G exm1421579 19 9072517 [T/G] NM_024690 MUC16 EXON Missense_Q4977K exm1421585 19 9072637 [T/C] NM_024690 MUC16 EXON Missense_S4937G exm1421590 19 9072742 [T/C] NM_024690 MUC16 EXON Missense_I4902V exm1421591 19 9072745 [T/C] NM_024690 MUC16 EXON Missense_S4901G exm1421612 19 9073300 [A/C] NM_024690 MUC16 EXON Missense_A4716S exm1421630 19 9073638 [T/C] NM_024690 MUC16 EXON Missense_R4603Q exm1421632 19 9073678 [C/G] NM_024690 MUC16 EXON Missense_D4590H exm1421642 19 9073887 [T/G] NM_024690 MUC16 EXON Missense_A4520D exm1421643 19 9073888 [T/C] NM_024690 MUC16 EXON Missense_A4520T exm1421648 19 9073983 [G/C] NM_024690 MUC16 EXON Missense_S4488C exm1421650 19 9074017 [A/G] NM_024690 MUC16 EXON Missense_S4477P exm1421651 19 9074037 [A/G] NM_024690 MUC16 EXON Missense_T4470M exm1421653 19 9074073 [A/G] NM_024690 MUC16 EXON Missense_P4458L exm1421654 19 9074074 [A/G] NM_024690 MUC16 EXON Missense_P4458S exm1421667 19 9074493 [T/G] NM_024690 MUC16 EXON Missense_A4318D exm1421678 19 9074697 [A/G] NM_024690 MUC16 EXON Missense_T4250M exm1421679 19 9074709 [A/T] NM_024690 MUC16 EXON Missense_D4246V exm1421685 19 9074770 [G/C] NM_024690 MUC16 EXON Missense_G4226R exm1421687 19 9074826 [A/G] NM_024690 MUC16 EXON Missense_S4207L exm1421713 19 9075321 [A/G] NM_024690 MUC16 EXON Missense_A4042V exm1421716 19 9075370 [T/C] NM_024690 MUC16 EXON Missense_T4026A exm1421717 19 9075387 [A/T] NM_024690 MUC16 EXON Missense_V4020D exm1421725 19 9075562 [A/G] NM_024690 MUC16 EXON Missense_H3962Y exm1421742 19 9075885 [T/C] NM_024690 MUC16 EXON Missense_G3854E exm1421745 19 9075969 [T/C] NM_024690 MUC16 EXON Missense_G3826E exm1421752 19 9076083 [A/G] NM_024690 MUC16 EXON Missense_T3788I exm1421757 19 9076159 [A/G] NM_024690 MUC16 EXON Missense_L3763F exm1421763 19 9076278 [A/G] NM_024690 MUC16 EXON Missense_T3723M exm1421764 19 9076293 [T/C] NM_024690 MUC16 EXON Missense_K3718R exm1421780 19 9076523 [G/C] NM_024690 MUC16 EXON Missense_S3641R exm1421782 19 9076546 [A/G] NM_024690 MUC16 EXON Missense_R3634C exm1421785 19 9076560 [C/G] NM_024690 MUC16 EXON Missense_S3629C exm1421795 19 9076728 [T/C] NM_024690 MUC16 EXON Missense_R3573H exm1421798 19 9076743 [A/G] NM_024690 MUC16 EXON Missense_P3568L exm2230564 19 9076836 [C/G] NM_024690 MUC16 EXON Missense_G3537A exm1421806 19 9076950 [A/C] NM_024690 MUC16 EXON Missense_R3499M exm1421808 19 9076992 [A/G] NM_024690 MUC16 EXON Missense_A3485V exm1421813 19 9077071 [T/G] NM_024690 MUC16 EXON Missense_T3459P exm1421816 19 9077128 [C/G] NM_024690 MUC16 EXON Missense_L3440V exm1421820 19 9077196 [T/C] NM_024690 MUC16 EXON Missense_R3417Q exm1421828 19 9077350 [T/A] NM_024690 MUC16 EXON Missense_S3366T exm1421830 19 9077436 [A/G] NM_024690 MUC16 EXON Missense_S3337L exm1421836 19 9077581 [T/G] NM_024690 MUC16 EXON Missense_P3289T exm1421843 19 9077769 [T/C] NM_024690 MUC16 EXON Missense_N3226S exm1421845 19 9077803 [T/C] NM_024690 MUC16 EXON Missense_S3215G exm1421847 19 9080462 [G/C] NM_024690 MUC16 EXON Missense_S3190T exm1421848 19 9080466 [A/C] NM_024690 MUC16 EXON Missense_G3189W exm1421852 19 9080543 [A/G] NM_024690 MUC16 EXON Missense_T3163M exm1421853 19 9082339 [T/C] NM_024690 MUC16 Silent exm1421861 19 9082436 [A/C] NM_024690 MUC16 EXON Missense_V3127F exm1421873 19 9082514 [A/C] NM_024690 MUC16 EXON Missense_A3101S exm1421874 19 9082519 [T/G] NM_024690 MUC16 EXON Missense_T3099N exm1421876 19 9082541 [A/G] NM_024690 MUC16 EXON Missense_P3092S exm1421887 19 9082798 [A/G] NM_024690 MUC16 EXON Missense_S3006L exm1421893 19 9082904 [A/C] NM_024690 MUC16 EXON Missense_A2971S exm1421900 19 9083051 [T/C] NM_024690 MUC16 EXON Missense_A2922T exm1421903 19 9083143 [A/G] NM_024690 MUC16 EXON Missense_T2891I exm1421905 19 9083174 [A/G] NM_024690 MUC16 EXON Missense_P2881S exm1421911 19 9083314 [A/G] NM_024690 MUC16 EXON Missense_T2834M exm1421912 19 9083363 [G/C] NM_024690 MUC16 EXON Missense_P2818A exm1421916 19 9083425 [A/C] NM_024690 MUC16 EXON Missense_S2797I exm1421920 19 9083457 [T/C] NM_024690 MUC16 EXON Missense_M2786I exm1421921 19 9083489 [A/C] NM_024690 MUC16 EXON Missense_S2776A exm1421925 19 9083576 [T/C] NM_024690 MUC16 EXON Missense_A2747T exm1421932 19 9083728 [A/G] NM_024690 MUC16 EXON Missense_A2696V exm1421938 19 9083791 [A/G] NM_024690 MUC16 EXON Missense_S2675L exm1421939 19 9083821 [A/G] NM_024690 MUC16 EXON Missense_F2665S exm1421943 19 9083936 [A/G] NM_024690 MUC16 EXON Missense_S2627P exm1421944 19 9083944 [A/G] NM_024690 MUC16 EXON Missense_T2624M exm2254127 19 9084216 [T/C] NM_024690 MUC16 EXON Synonymous_A2533A exm1421956 19 9084233 [T/C] NM_024690 MUC16 EXON Missense_A2528T exm1421967 19 9084413 [A/G] NM_024690 MUC16 EXON Missense_W2468R exm1958402 19 9084439 [A/G] NM_024690 MUC16 EXON Missense_V2459A exm1421970 19 9084481 [T/C] NM_024690 MUC16 EXON Missense_G2445D exm1421971 19 9084514 [A/G] NM_024690 MUC16 EXON Missense_T2434I exm1421974 19 9084562 [A/G] NM_024690 MUC16 EXON Missense_S2418F exm1421975 19 9084578 [T/G] NM_024690 MUC16 EXON Missense_P2413T exm1421976 19 9084614 [A/C] NM_024690 MUC16 EXON Missense_A2401S exm1421978 19 9084641 [T/C] NM_024690 MUC16 EXON Missense_S2392G exm1421984 19 9084710 [A/G] NM_024690 MUC16 EXON Missense_S2369P exm1421986 19 9084747 [G/C] NM_024690 MUC16 EXON Missense_D2356E exm1421995 19 9084953 [A/C] NM_024690 MUC16 EXON Missense_V2288L exm1421996 19 9085004 [T/C] NM_024690 MUC16 EXON Missense_T2271A exm2230567 19 9085105 [A/G] NM_024690 MUC16 EXON Missense_I2237T exm1422006 19 9085367 [T/C] NM_024690 MUC16 EXON Missense_I2150V exm1422008 19 9085414 [A/G] NM_024690 MUC16 EXON Missense_T2134I exm1422011 19 9085507 [T/C] NM_024690 MUC16 EXON Missense_Q2103R exm1422013 19 9085570 [T/C] NM_024690 MUC16 EXON Missense_N2082S exm1422016 19 9085601 [A/C] NM_024690 MUC16 EXON Missense_A2072S exm1422018 19 9085643 [A/G] NM_024690 MUC16 EXON Missense_S2058P exm1422023 19 9085738 [A/G] NM_024690 MUC16 EXON Missense_T2026I exm1422031 19 9085923 [A/C] NM_024690 MUC16 EXON Missense_H1964Q exm1422034 19 9085958 [A/G] NM_024690 MUC16 EXON Missense_S1953P exm1422035 19 9086012 [T/G] NM_024690 MUC16 EXON Missense_T1935P exm1422036 19 9086060 [T/C] NM_024690 MUC16 EXON Missense_A1919T exm1422038 19 9086075 [T/C] NM_024690 MUC16 EXON Missense_T1914A exm1422040 19 9086123 [A/C] NM_024690 MUC16 EXON Missense_Y1898D exm1422043 19 9086143 [T/C] NM_024690 MUC16 EXON Missense_S1891N exm2254128 19 9086181 [A/G] NM_024690 MUC16 EXON Synonymous_G1878G exm1422052 19 9086269 [T/C] NM_024690 MUC16 EXON Missense_H1849R exm1422054 19 9086281 [A/T] NM_024690 MUC16 EXON Missense_L1845H exm1422057 19 9086318 [A/G] NM_024690 MUC16 EXON Missense_L1833F exm1422065 19 9086482 [A/G] NM_024690 MUC16 EXON Missense_T1778I exm1422069 19 9086533 [T/C] NM_024690 MUC16 EXON Missense_E1761G exm1422072 19 9086635 [T/C] NM_024690 MUC16 EXON Missense_G1727E exm1422073 19 9086722 [A/C] NM_024690 MUC16 EXON Missense_G1698V exm1422084 19 9087133 [A/G] NM_024690 MUC16 EXON Missense_T1561M exm1422097 19 9087430 [T/C] NM_024690 MUC16 EXON Missense_S1462N exm1422110 19 9087758 [A/G] NM_024690 MUC16 EXON Missense_H1353Y exm2230568 19 9087776 [A/G] NM_024690 MUC16 EXON Missense_L1347F exm1422124 19 9088017 [T/G] NM_024690 MUC16 EXON Missense_K1266N exm1422143 19 9088330 [A/G] NM_024690 MUC16 EXON Missense_T1162I exm1422156 19 9088694 [A/G] NM_024690 MUC16 EXON Missense_P1041S exm1422163 19 9088772 [T/C] NM_024690 MUC16 EXON Missense_R1015G exm1422169 19 9088931 [T/G] NM_024690 MUC16 EXON Missense_P962T exm1422171 19 9088981 [A/G] NM_024690 MUC16 EXON Missense_T945M exm1422178 19 9089110 [T/G] NM_024690 MUC16 EXON Missense_D902A exm1422180 19 9089158 [A/G] NM_024690 MUC16 EXON Missense_T886I exm1422204 19 9089955 [G/C] NM_024690 MUC16 EXON Missense_S620R exm1422205 19 9089965 [A/G] NM_024690 MUC16 EXON Missense_T617I exm1422206 19 9089974 [T/C] NM_024690 MUC16 EXON Missense_G614D exm1422211 19 9090067 [T/C] NM_024690 MUC16 EXON Missense_E583G exm2254129 19 9090069 [T/A] NM_024690 MUC16 EXON Synonymous_L582L exm1422216 19 9090128 [T/G] NM_024690 MUC16 EXON Missense_P563T exm1422222 19 9090182 [T/C] NM_024690 MUC16 EXON Missense_T545A exm1422224 19 9090314 [T/C] NM_024690 MUC16 EXON Missense_G501R exm1422226 19 9090383 [A/G] NM_024690 MUC16 EXON Missense_H478Y exm1422228 19 9090405 [T/A] NM_024690 MUC16 EXON Missense_S470R exm1422236 19 9090544 [A/G] NM_024690 MUC16 EXON Missense_T424M exm1422250 19 9090784 [T/C] NM_024690 MUC16 EXON Missense_R344K exm1422252 19 9090822 [A/C] NM_024690 MUC16 EXON Missense_M331I exm1422255 19 9090850 [A/G] NM_024690 MUC16 EXON Missense_M322T exm1422261 19 9090970 [A/G] NM_024690 MUC16 EXON Missense_A282V exm1422265 19 9091024 [A/G] NM_024690 MUC16 EXON Missense_P264L exm1422271 19 9091282 [T/G] NM_024690 MUC16 EXON Missense_T178N exm1422272 19 9091337 [T/C] NM_024690 MUC16 EXON Missense_E160K exm1422275 19 9091414 [C/G] NM_024690 MUC16 EXON Missense_S134T exm1422278 19 9091449 [A/C] NM_024690 MUC16 EXON Missense_M122I exm1422288 19 9091579 [A/G] NM_024690 MUC16 EXON Missense_L79S exm1422292 19 9091678 [T/C] NM_024690 MUC16 EXON Missense_G46D exm1422296 19 9091772 [A/G] NM_024690 MUC16 EXON Missense_R15C exm2272760 19 9111508 [T/G] exm1422299 19 9203994 [T/C] NM_001004456 OR1M1 EXON Missense_T25M exm1422303 19 9204038 [A/G] NM_001004456 OR1M1 EXON Missense_V40M exm1422312 19 9204191 [A/G] NM_001004456 OR1M1 EXON Missense_A91T exm1422316 19 9204248 [A/G] NM_001004456 OR1M1 EXON Missense_V110M exm1422318 19 9204257 [A/G] NM_001004456 OR1M1 EXON Missense_V113I exm1422321 19 9204284 [T/C] NM_001004456 OR1M1 EXON Missense_R122W exm1422323 19 9204290 [A/G] NM_001004456 OR1M1 EXON Missense_V124M exm1422325 19 9204335 [T/C] NM_001004456 OR1M1 EXON Missense_R139C exm1422331 19 9204414 [A/G] NM_001004456 OR1M1 EXON Missense_R165H exm1422334 19 9204428 [A/G] NM_001004456 OR1M1 EXON Missense_G170S exm1422345 19 9204612 [T/C] NM_001004456 OR1M1 EXON Missense_A231V exm1422353 19 9204653 [G/C] NM_001004456 OR1M1 EXON Missense_L245V exm1422357 19 9204744 [T/C] NM_001004456 OR1M1 EXON Missense_A275V exm1422361 19 9212949 [T/C] NM_001005193 OR7G2 EXON Missense_E345G exm1422362 19 9212994 [A/G] NM_001005193 OR7G2 EXON Missense_P330L exm1422370 19 9213132 [A/G] NM_001005193 OR7G2 EXON Missense_V284A exm1422372 19 9213160 [A/C] NM_001005193 OR7G2 EXON Missense_A275S exm1422375 19 9213212 [T/G] NM_001005193 OR7G2 EXON Missense_K257N exm1422377 19 9213324 [A/G] NM_001005193 OR7G2 EXON Missense_I220T exm1422379 19 9213396 [A/G] NM_001005193 OR7G2 EXON Missense_P196L exm1422384 19 9213528 [A/C] NM_001005193 OR7G2 EXON Missense_R152I exm1422387 19 9213594 [T/C] NM_001005193 OR7G2 EXON Missense_G130D exm1422388 19 9213621 [T/C] NM_001005193 OR7G2 EXON Missense_Q121R exm1422391 19 9213651 [T/C] NM_001005193 OR7G2 EXON Missense_R111Q exm1422395 19 9213726 [T/C] NM_001005193 OR7G2 EXON Missense_N86S exm1422411 19 9213972 [T/C] NM_001005193 OR7G2 EXON Missense_Q4R exm1422414 19 9225562 [T/C] NM_001005192 OR7G1 EXON Missense_R293K exm1422418 19 9225619 [A/G] NM_001005192 OR7G1 EXON Missense_A274V exm1422420 19 9225662 [T/C] NM_001005192 OR7G1 EXON Missense_I260V exm1422422 19 9225685 [T/C] NM_001005192 OR7G1 EXON Missense_Y252C exm1422424 19 9225694 [A/G] NM_001005192 OR7G1 EXON Missense_S249F exm1422425 19 9225698 [A/T] NM_001005192 OR7G1 EXON Missense_F248I exm1422427 19 9225767 [A/C] NM_001005192 OR7G1 EXON Missense_V225F exm1422435 19 9225940 [A/G] NM_001005192 OR7G1 EXON Missense_S167F exm1422436 19 9225973 [A/G] NM_001005192 OR7G1 EXON Missense_A156V exm2230577 19 9226000 [A/G] NM_001005192 OR7G1 EXON Missense_L147P exm1422438 19 9226017 [G/C] NM_001005192 OR7G1 EXON Missense_W141C exm1422441 19 9226055 [T/G] NM_001005192 OR7G1 EXON Missense_P129T exm1422443 19 9226075 [T/C] NM_001005192 OR7G1 EXON Missense_R122H exm1422448 19 9226192 [A/G] NM_001005192 OR7G1 EXON Missense_V83A exm1422451 19 9226265 [T/C] NM_001005192 OR7G1 EXON Missense_M59V exm1422456 19 9226425 [T/G] NM_001005192 OR7G1 EXON Missense_N5K exm1422465 19 9236724 [G/C] NM_001001958 OR7G3 EXON Missense_L301F exm1422469 19 9236815 [T/C] NM_001001958 OR7G3 EXON Missense_G271D exm1422472 19 9236888 [T/C] NM_001001958 OR7G3 EXON Missense_V247I exm1422476 19 9236909 [T/C] NM_001001958 OR7G3 EXON Missense_I240V exm1422477 19 9236917 [A/G] NM_001001958 OR7G3 EXON Missense_A237V exm1422478 19 9236935 [A/G] NM_001001958 OR7G3 EXON Missense_A231V exm1422481 19 9236969 [A/G] NM_001001958 OR7G3 EXON Nonsense_R220X exm1422487 19 9237113 [C/G] NM_001001958 OR7G3 EXON Missense_L172V exm1422491 19 9237263 [A/G] NM_001001958 OR7G3 EXON Nonsense_R122X exm1422498 19 9237457 [T/G] NM_001001958 OR7G3 EXON Missense_T57N exm1422501 19 9237542 [T/C] NM_001001958 OR7G3 EXON Missense_M29V exm1422502 19 9237554 [A/G] NM_001001958 OR7G3 EXON Missense_P25S exm1422506 19 9237622 [T/C] NM_001001958 OR7G3 EXON Missense_K2R exm1422519 19 9267302 [A/G] NM_020933,NM_001190791 ZNF317,ZNF317 EXON Missense_D14N,Missense_D14N exm1422521 19 9267319 [T/G] NM_020933,NM_001190791 ZNF317,ZNF317 EXON Missense_Q19H,Missense_Q19H exm1422535 19 9269503 [T/G] NM_020933,NM_001190791 ZNF317,ZNF317 EXON Missense_D129E,Missense_D97E exm1422541 19 9270799 [A/G] NM_020933,NM_001190791 ZNF317,ZNF317 EXON Missense_G160S,Missense_G128S exm1422542 19 9270817 [A/G] NM_020933,NM_001190791 ZNF317,ZNF317 EXON Missense_T166A,Missense_T134A exm1422544 19 9270910 [T/C] NM_020933,NM_001190791 ZNF317,ZNF317 EXON Missense_R197C,Missense_R165C exm1422555 19 9271127 [G/C] NM_020933,NM_001190791 ZNF317,ZNF317 EXON Missense_A269G,Missense_A237G exm1422575 19 9271424 [A/G] NM_020933,NM_001190791 ZNF317,ZNF317 EXON Missense_G368D,Missense_G336D exm1422578 19 9271561 [A/G] NM_020933,NM_001190791 ZNF317,ZNF317 EXON Missense_V414I,Missense_V382I exm1422592 19 9271771 [A/G] NM_020933,NM_001190791 ZNF317,ZNF317 EXON Missense_G484S,Missense_G452S exm1422614 19 9296652 [A/C] NM_175883 OR7D2 EXON Missense_N65K exm1422620 19 9296719 [A/G] NM_175883 OR7D2 EXON Missense_E88K exm1422627 19 9296821 [T/C] NM_175883 OR7D2 EXON Missense_R122W exm1958533 19 9296936 [T/G] NM_175883 OR7D2 EXON Missense_I160S exm1422632 19 9296965 [A/G] NM_175883 OR7D2 EXON Missense_K170E exm1422639 19 9297079 [A/G] NM_175883 OR7D2 EXON Missense_V208I exm1422644 19 9297196 [A/G] NM_175883 OR7D2 EXON Missense_V247I exm1422650 19 9297286 [T/A] NM_175883 OR7D2 EXON Missense_M277L exm1422651 19 9297293 [T/C] NM_175883 OR7D2 EXON Missense_T279I exm2230580 19 9297366 [T/A] NM_175883 OR7D2 EXON Missense_S303R exm1422677 19 9324916 [A/T] NM_001005191 OR7D4 EXON Missense_Y200N exm1422681 19 9324972 [A/G] NM_001005191 OR7D4 EXON Missense_P181L exm1422693 19 9325116 [A/G] NM_001005191 OR7D4 EXON Missense_T133M exm1422703 19 9325278 [A/G] NM_001005191 OR7D4 EXON Missense_P79L exm1422715 19 9325465 [A/G] NM_001005191 OR7D4 EXON Missense_L17F exm2272814 19 9354461 [T/G] exm2275030 19 9361722 [A/G] NM_001079935 OR7E24 EXON Missense_M1I exm1422720 19 9361775 [C/G] NM_001079935 OR7E24 EXON Missense_T19R exm1422735 19 9362188 [T/C] NM_001079935 OR7E24 EXON Missense_R157C exm1422736 19 9362297 [T/C] NM_001079935 OR7E24 EXON Missense_S193F exm1422737 19 9362308 [T/C] NM_001079935 OR7E24 EXON Missense_C197R exm1422751 19 9362545 [T/G] NM_001079935 OR7E24 EXON Missense_G276W exm1422756 19 9362678 [A/G] NM_001079935 OR7E24 EXON Missense_C320Y exm1422767 19 9406347 [A/G] NM_198535 ZNF699 EXON Missense_A578V exm1422770 19 9406375 [A/G] NM_198535 ZNF699 EXON Missense_R569C exm1422771 19 9406425 [A/G] NM_198535 ZNF699 EXON Missense_T552M exm1422778 19 9406585 [T/C] NM_198535 ZNF699 EXON Missense_G499R exm1422781 19 9406652 [T/G] NM_198535 ZNF699 EXON Missense_E476D exm1422785 19 9406752 [T/C] NM_198535 ZNF699 EXON Missense_R443Q exm1422786 19 9406753 [A/G] NM_198535 ZNF699 EXON Nonsense_R443X exm1422797 19 9407055 [T/C] NM_198535 ZNF699 EXON Missense_K342R exm1422803 19 9407202 [A/G] NM_198535 ZNF699 EXON Missense_S293L exm1422810 19 9407328 [T/C] NM_198535 ZNF699 EXON Missense_Y251C exm1422816 19 9407518 [T/C] NM_198535 ZNF699 EXON Missense_R188G exm1422825 19 9408561 [T/C] NM_198535 ZNF699 EXON Missense_R94Q exm1422826 19 9408562 [A/G] NM_198535 ZNF699 EXON Missense_R94W exm1422831 19 9408660 [A/G] NM_198535 ZNF699 EXON Missense_P61L exm1422839 19 9449235 [A/G] NM_001202409,NM_032497,NM_001202410,NM_001202411,NM_001202406,NM_001202408,NM_001202407,NM_001172650,NM_001202412,NM_001202425 ZNF559,ZNF559,ZNF559,ZNF559,ZNF559,ZNF559,ZNF559,ZNF559-ZNF177,ZNF559,ZNF559-ZNF177 EXON Missense_G32R,Missense_G4R,Missense_G4R,Missense_G4R,Missense_G68R,Missense_G68R,Silent,Silent,Missense_G4R,Silent exm1422840 19 9449242 [T/G] NM_001202409,NM_032497,NM_001202410,NM_001202411,NM_001202406,NM_001202408,NM_001202407,NM_001172650,NM_001202412,NM_001202425 ZNF559,ZNF559,ZNF559,ZNF559,ZNF559,ZNF559,ZNF559,ZNF559-ZNF177,ZNF559,ZNF559-ZNF177 EXON Missense_L34W,Missense_L6W,Missense_L6W,Missense_L6W,Missense_L70W,Missense_L70W,Silent,Silent,Missense_L6W,Silent exm1422844 19 9449888 [A/G] NM_001202409,NM_032497,NM_001202410,NM_001202411,NM_001202406,NM_001202408,NM_001202407,NM_001172650,NM_001202412,NM_001202425 ZNF559,ZNF559,ZNF559,ZNF559,ZNF559,ZNF559,ZNF559,ZNF559-ZNF177,ZNF559,ZNF559-ZNF177 EXON Missense_D46G,Missense_D18G,Missense_D18G,Missense_D18G,Missense_D82G,Missense_D82G,Silent,Silent,Missense_D18G,Silent exm1958620 19 9449906 [C/G] NM_001202409,NM_032497,NM_001202410,NM_001202411,NM_001202406,NM_001202408,NM_001202407,NM_001172650,NM_001202412,NM_001202425 ZNF559,ZNF559,ZNF559,ZNF559,ZNF559,ZNF559,ZNF559,ZNF559-ZNF177,ZNF559,ZNF559-ZNF177 EXON Missense_T52S,Missense_T24S,Missense_T24S,Missense_T24S,Missense_T88S,Missense_T88S,Silent,Silent,Missense_T24S,Silent exm2230586 19 9452487 [G/C] NM_001202409,NM_032497,NM_001202410,NM_001202411,NM_001202406,NM_001202408,NM_001202407,NM_001172650,NM_001202412,NM_001202425 ZNF559,ZNF559,ZNF559,ZNF559,ZNF559,ZNF559,ZNF559,ZNF559-ZNF177,ZNF559,ZNF559-ZNF177 EXON Silent,Missense_E120D,Silent,Silent,Missense_E184D,Silent,Missense_E78D,Silent,Silent,Silent exm1422855 19 9452498 [A/G] NM_001202409,NM_032497,NM_001202410,NM_001202411,NM_001202406,NM_001202408,NM_001202407,NM_001172650,NM_001202412,NM_001202425 ZNF559,ZNF559,ZNF559,ZNF559,ZNF559,ZNF559,ZNF559,ZNF559-ZNF177,ZNF559,ZNF559-ZNF177 EXON Silent,Missense_C124Y,Silent,Silent,Missense_C188Y,Silent,Missense_C82Y,Silent,Silent,Silent exm1422862 19 9452698 [A/G] NM_001202409,NM_032497,NM_001202410,NM_001202411,NM_001202406,NM_001202408,NM_001202407,NM_001172650,NM_001202412,NM_001202425 ZNF559,ZNF559,ZNF559,ZNF559,ZNF559,ZNF559,ZNF559,ZNF559-ZNF177,ZNF559,ZNF559-ZNF177 EXON Silent,Missense_E191K,Silent,Silent,Missense_E255K,Silent,Missense_E149K,Silent,Silent,Silent exm1422870 19 9452879 [A/C] NM_001202409,NM_032497,NM_001202410,NM_001202411,NM_001202406,NM_001202408,NM_001202407,NM_001172650,NM_001202412,NM_001202425 ZNF559,ZNF559,ZNF559,ZNF559,ZNF559,ZNF559,ZNF559,ZNF559-ZNF177,ZNF559,ZNF559-ZNF177 EXON Silent,Missense_T251N,Silent,Silent,Missense_T315N,Silent,Missense_T209N,Silent,Silent,Silent exm1422871 19 9452885 [T/C] NM_001202409,NM_032497,NM_001202410,NM_001202411,NM_001202406,NM_001202408,NM_001202407,NM_001172650,NM_001202412,NM_001202425 ZNF559,ZNF559,ZNF559,ZNF559,ZNF559,ZNF559,ZNF559,ZNF559-ZNF177,ZNF559,ZNF559-ZNF177 EXON Silent,Missense_S253L,Silent,Silent,Missense_S317L,Silent,Missense_S211L,Silent,Silent,Silent exm1422877 19 9453020 [T/C] NM_001202409,NM_032497,NM_001202410,NM_001202411,NM_001202406,NM_001202408,NM_001202407,NM_001172650,NM_001202412,NM_001202425 ZNF559,ZNF559,ZNF559,ZNF559,ZNF559,ZNF559,ZNF559,ZNF559-ZNF177,ZNF559,ZNF559-ZNF177 EXON Silent,Missense_V298A,Silent,Silent,Missense_V362A,Silent,Missense_V256A,Silent,Silent,Silent exm1422878 19 9453026 [A/T] NM_001202409,NM_032497,NM_001202410,NM_001202411,NM_001202406,NM_001202408,NM_001202407,NM_001172650,NM_001202412,NM_001202425 ZNF559,ZNF559,ZNF559,ZNF559,ZNF559,ZNF559,ZNF559,ZNF559-ZNF177,ZNF559,ZNF559-ZNF177 EXON Silent,Missense_N300I,Silent,Silent,Missense_N364I,Silent,Missense_N258I,Silent,Silent,Silent exm1422881 19 9453083 [A/G] NM_001202409,NM_032497,NM_001202410,NM_001202411,NM_001202406,NM_001202408,NM_001202407,NM_001172650,NM_001202412,NM_001202425 ZNF559,ZNF559,ZNF559,ZNF559,ZNF559,ZNF559,ZNF559,ZNF559-ZNF177,ZNF559,ZNF559-ZNF177 EXON Silent,Missense_H319R,Silent,Silent,Missense_H383R,Silent,Missense_H277R,Silent,Silent,Silent exm1422882 19 9453103 [A/G] NM_001202409,NM_032497,NM_001202410,NM_001202411,NM_001202406,NM_001202408,NM_001202407,NM_001172650,NM_001202412,NM_001202425 ZNF559,ZNF559,ZNF559,ZNF559,ZNF559,ZNF559,ZNF559,ZNF559-ZNF177,ZNF559,ZNF559-ZNF177 EXON Silent,Missense_E326K,Silent,Silent,Missense_E390K,Silent,Missense_E284K,Silent,Silent,Silent exm1422883 19 9453160 [T/C] NM_001202409,NM_032497,NM_001202410,NM_001202411,NM_001202406,NM_001202408,NM_001202407,NM_001172650,NM_001202412,NM_001202425 ZNF559,ZNF559,ZNF559,ZNF559,ZNF559,ZNF559,ZNF559,ZNF559-ZNF177,ZNF559,ZNF559-ZNF177 EXON Silent,Nonsense_R345X,Silent,Silent,Nonsense_R409X,Silent,Nonsense_R303X,Silent,Silent,Silent exm1422884 19 9453161 [A/G] NM_001202409,NM_032497,NM_001202410,NM_001202411,NM_001202406,NM_001202408,NM_001202407,NM_001172650,NM_001202412,NM_001202425 ZNF559,ZNF559,ZNF559,ZNF559,ZNF559,ZNF559,ZNF559,ZNF559-ZNF177,ZNF559,ZNF559-ZNF177 EXON Silent,Missense_R345Q,Silent,Silent,Missense_R409Q,Silent,Missense_R303Q,Silent,Silent,Silent exm1958636 19 9453187 [C/G] NM_001202409,NM_032497,NM_001202410,NM_001202411,NM_001202406,NM_001202408,NM_001202407,NM_001172650,NM_001202412,NM_001202425 ZNF559,ZNF559,ZNF559,ZNF559,ZNF559,ZNF559,ZNF559,ZNF559-ZNF177,ZNF559,ZNF559-ZNF177 EXON Silent,Missense_E354Q,Silent,Silent,Missense_E418Q,Silent,Missense_E312Q,Silent,Silent,Silent exm1422885 19 9453191 [A/G] NM_001202409,NM_032497,NM_001202410,NM_001202411,NM_001202406,NM_001202408,NM_001202407,NM_001172650,NM_001202412,NM_001202425 ZNF559,ZNF559,ZNF559,ZNF559,ZNF559,ZNF559,ZNF559,ZNF559-ZNF177,ZNF559,ZNF559-ZNF177 EXON Silent,Missense_C355Y,Silent,Silent,Missense_C419Y,Silent,Missense_C313Y,Silent,Silent,Silent exm2230587 19 9453311 [T/C] NM_001202409,NM_032497,NM_001202410,NM_001202411,NM_001202406,NM_001202408,NM_001202407,NM_001172650,NM_001202412,NM_001202425 ZNF559,ZNF559,ZNF559,ZNF559,ZNF559,ZNF559,ZNF559,ZNF559-ZNF177,ZNF559,ZNF559-ZNF177 EXON Silent,Missense_S395F,Silent,Silent,Missense_S459F,Silent,Missense_S353F,Silent,Silent,Silent exm1422896 19 9453385 [T/C] NM_001202409,NM_032497,NM_001202410,NM_001202411,NM_001202406,NM_001202408,NM_001202407,NM_001172650,NM_001202412,NM_001202425 ZNF559,ZNF559,ZNF559,ZNF559,ZNF559,ZNF559,ZNF559,ZNF559-ZNF177,ZNF559,ZNF559-ZNF177 EXON Silent,Nonsense_R420X,Silent,Silent,Nonsense_R484X,Silent,Nonsense_R378X,Silent,Silent,Silent exm1422899 19 9453404 [A/G] NM_001202409,NM_032497,NM_001202410,NM_001202411,NM_001202406,NM_001202408,NM_001202407,NM_001172650,NM_001202412,NM_001202425 ZNF559,ZNF559,ZNF559,ZNF559,ZNF559,ZNF559,ZNF559,ZNF559-ZNF177,ZNF559,ZNF559-ZNF177 EXON Silent,Missense_R426Q,Silent,Silent,Missense_R490Q,Silent,Missense_R384Q,Silent,Silent,Silent exm1422900 19 9453428 [A/G] NM_001202409,NM_032497,NM_001202410,NM_001202411,NM_001202406,NM_001202408,NM_001202407,NM_001172650,NM_001202412,NM_001202425 ZNF559,ZNF559,ZNF559,ZNF559,ZNF559,ZNF559,ZNF559,ZNF559-ZNF177,ZNF559,ZNF559-ZNF177 EXON Silent,Missense_E434G,Silent,Silent,Missense_E498G,Silent,Missense_E392G,Silent,Silent,Silent exm1422903 19 9453486 [T/G] NM_001202409,NM_032497,NM_001202410,NM_001202411,NM_001202406,NM_001202408,NM_001202407,NM_001172650,NM_001202412,NM_001202425 ZNF559,ZNF559,ZNF559,ZNF559,ZNF559,ZNF559,ZNF559,ZNF559-ZNF177,ZNF559,ZNF559-ZNF177 EXON Silent,Missense_S453R,Silent,Silent,Missense_S517R,Silent,Missense_S411R,Silent,Silent,Silent exm2230590 19 9453637 [T/C] NM_001202409,NM_032497,NM_001202410,NM_001202411,NM_001202406,NM_001202408,NM_001202407,NM_001172650,NM_001202412,NM_001202425 ZNF559,ZNF559,ZNF559,ZNF559,ZNF559,ZNF559,ZNF559,ZNF559-ZNF177,ZNF559,ZNF559-ZNF177 EXON Silent,Missense_R504W,Silent,Silent,Missense_R568W,Silent,Missense_R462W,Silent,Silent,Silent exm1422909 19 9453655 [T/C] NM_001202409,NM_032497,NM_001202410,NM_001202411,NM_001202406,NM_001202408,NM_001202407,NM_001172650,NM_001202412,NM_001202425 ZNF559,ZNF559,ZNF559,ZNF559,ZNF559,ZNF559,ZNF559,ZNF559-ZNF177,ZNF559,ZNF559-ZNF177 EXON Silent,Nonsense_R510X,Silent,Silent,Nonsense_R574X,Silent,Nonsense_R468X,Silent,Silent,Silent exm1422925 19 9490233 [C/G] NM_001172650,NM_001202425,NM_003451,NM_001172651 ZNF559-ZNF177,ZNF559-ZNF177,ZNF177,ZNF177 EXON Missense_S64C,Missense_S64C,Missense_S64C,Missense_S64C exm1422926 19 9490235 [A/G] NM_001172650,NM_001202425,NM_003451,NM_001172651 ZNF559-ZNF177,ZNF559-ZNF177,ZNF177,ZNF177 EXON Missense_K65E,Missense_K65E,Missense_K65E,Missense_K65E exm1422927 19 9490236 [A/G] NM_001172650,NM_001202425,NM_003451,NM_001172651 ZNF559-ZNF177,ZNF559-ZNF177,ZNF177,ZNF177 EXON Missense_K65R,Missense_K65R,Missense_K65R,Missense_K65R exm1422928 19 9490258 [C/G] NM_001172650,NM_001202425,NM_003451,NM_001172651 ZNF559-ZNF177,ZNF559-ZNF177,ZNF177,ZNF177 EXON Missense_K72N,Missense_K72N,Missense_K72N,Missense_K72N exm1422930 19 9490760 [A/G] NM_001172650,NM_001202425,NM_003451,NM_001172651 ZNF559-ZNF177,ZNF559-ZNF177,ZNF177,ZNF177 EXON Missense_D94G,Missense_D94G,Missense_D94G,Missense_D94G exm1422931 19 9490771 [A/G] NM_001172650,NM_001202425,NM_003451,NM_001172651 ZNF559-ZNF177,ZNF559-ZNF177,ZNF177,ZNF177 EXON Missense_M98V,Missense_M98V,Missense_M98V,Missense_M98V exm1422933 19 9490796 [T/C] NM_001172650,NM_001202425,NM_003451,NM_001172651 ZNF559-ZNF177,ZNF559-ZNF177,ZNF177,ZNF177 EXON Missense_T106I,Missense_T106I,Missense_T106I,Missense_T106I exm1422937 19 9491798 [T/C] NM_001172650,NM_001202425,NM_003451,NM_001172651 ZNF559-ZNF177,ZNF559-ZNF177,ZNF177,ZNF177 EXON Silent,Silent,Silent,Missense_T264I exm1422938 19 9491840 [A/T] NM_001172650,NM_001202425,NM_003451,NM_001172651 ZNF559-ZNF177,ZNF559-ZNF177,ZNF177,ZNF177 EXON Missense_H118L,Silent,Missense_H118L,Missense_H278L exm1422941 19 9491939 [T/C] NM_001172650,NM_001202425,NM_003451,NM_001172651 ZNF559-ZNF177,ZNF559-ZNF177,ZNF177,ZNF177 EXON Missense_P151L,Silent,Missense_P151L,Missense_P311L exm1422944 19 9492013 [A/G] NM_001172650,NM_001202425,NM_003451,NM_001172651 ZNF559-ZNF177,ZNF559-ZNF177,ZNF177,ZNF177 EXON Missense_G176R,Silent,Missense_G176R,Missense_G336R exm1422958 19 9492188 [A/C] NM_001172650,NM_001202425,NM_003451,NM_001172651 ZNF559-ZNF177,ZNF559-ZNF177,ZNF177,ZNF177 EXON Missense_K234T,Silent,Missense_K234T,Missense_K394T exm1422961 19 9492299 [A/C] NM_001172650,NM_001202425,NM_003451,NM_001172651 ZNF559-ZNF177,ZNF559-ZNF177,ZNF177,ZNF177 EXON Missense_K271T,Silent,Missense_K271T,Missense_K431T exm1422963 19 9492301 [A/G] NM_001172650,NM_001202425,NM_003451,NM_001172651 ZNF559-ZNF177,ZNF559-ZNF177,ZNF177,ZNF177 EXON Missense_A272T,Silent,Missense_A272T,Missense_A432T exm1422978 19 9523973 [A/G] NM_006631,NM_001271314 ZNF266,ZNF266 EXON Missense_A543V,Missense_A543V exm1422994 19 9524280 [A/C] NM_006631,NM_001271314 ZNF266,ZNF266 EXON Missense_C441G,Missense_C441G exm1423004 19 9524487 [A/G] NM_006631,NM_001271314 ZNF266,ZNF266 EXON Nonsense_R372X,Nonsense_R372X exm1423007 19 9524511 [A/T] NM_006631,NM_001271314 ZNF266,ZNF266 EXON Missense_N364Y,Missense_N364Y exm1423008 19 9524533 [A/T] NM_006631,NM_001271314 ZNF266,ZNF266 EXON Missense_D356E,Missense_D356E exm1423018 19 9524715 [A/G] NM_006631,NM_001271314 ZNF266,ZNF266 EXON Missense_Y296H,Missense_Y296H exm1423027 19 9524861 [T/C] NM_006631,NM_001271314 ZNF266,ZNF266 EXON Missense_K247R,Missense_K247R exm1423031 19 9524996 [T/C] NM_006631,NM_001271314 ZNF266,ZNF266 EXON Missense_R202H,Missense_R202H exm1423032 19 9524997 [A/G] NM_006631,NM_001271314 ZNF266,ZNF266 EXON Missense_R202C,Missense_R202C exm1423033 19 9525017 [T/C] NM_006631,NM_001271314 ZNF266,ZNF266 EXON Missense_H195R,Missense_H195R exm1423036 19 9525105 [T/C] NM_006631,NM_001271314 ZNF266,ZNF266 EXON Missense_I166V,Missense_I166V exm1423047 19 9525314 [T/G] NM_006631,NM_001271314 ZNF266,ZNF266 EXON Missense_H96P,Missense_H96P exm1423049 19 9525350 [T/C] NM_006631,NM_001271314 ZNF266,ZNF266 EXON Missense_G84E,Missense_G84E exm1423050 19 9525363 [T/C] NM_006631,NM_001271314 ZNF266,ZNF266 EXON Missense_V80I,Missense_V80I exm1958686 19 9525381 [T/C] NM_006631,NM_001271314 ZNF266,ZNF266 EXON Missense_G74R,Missense_G74R exm1423055 19 9526374 [A/G] NM_006631,NM_001271314 ZNF266,ZNF266 EXON Nonsense_Q54X,Nonsense_Q54X exm2268177 19 9555855 [A/G] exm1423068 19 9577335 [A/C] NM_152476 ZNF560 EXON Missense_M763R exm1423075 19 9577529 [T/G] NM_152476 ZNF560 EXON Nonsense_C698X exm1423078 19 9577542 [T/C] NM_152476 ZNF560 EXON Missense_R694Q exm1423079 19 9577543 [A/G] NM_152476 ZNF560 EXON Nonsense_R694X exm1423081 19 9577668 [A/C] NM_152476 ZNF560 EXON Missense_G652V exm1423082 19 9577734 [T/C] NM_152476 ZNF560 EXON Missense_Y630C exm1423083 19 9577740 [T/C] NM_152476 ZNF560 EXON Missense_Y628C exm1423086 19 9577764 [T/C] NM_152476 ZNF560 EXON Missense_R620Q exm1423091 19 9577789 [A/G] NM_152476 ZNF560 EXON Missense_R612C exm2230594 19 9577832 [A/C] NM_152476 ZNF560 EXON Missense_E597D exm2230595 19 9577839 [G/C] NM_152476 ZNF560 EXON Missense_S595T exm2230597 19 9577867 [A/C] NM_152476 ZNF560 EXON Missense_Y586D exm1423097 19 9577924 [T/C] NM_152476 ZNF560 EXON Missense_A567T exm1423104 19 9578028 [T/C] NM_152476 ZNF560 EXON Missense_R532H exm1423105 19 9578029 [A/G] NM_152476 ZNF560 EXON Missense_R532C exm1423112 19 9578229 [T/C] NM_152476 ZNF560 EXON Missense_Y465C exm1423124 19 9578370 [T/C] NM_152476 ZNF560 EXON Missense_G418D exm1423133 19 9578460 [A/G] NM_152476 ZNF560 EXON Missense_P388L exm1423134 19 9578533 [T/C] NM_152476 ZNF560 EXON Missense_N364D exm1423144 19 9578799 [T/C] NM_152476 ZNF560 EXON Missense_R275H exm1423145 19 9578821 [T/C] NM_152476 ZNF560 EXON Missense_S268G exm1423152 19 9579009 [A/G] NM_152476 ZNF560 EXON Missense_A205V exm1423154 19 9579809 [A/C] NM_152476 ZNF560 EXON Missense_C195F exm1423166 19 9582054 [T/C] NM_152476 ZNF560 EXON Missense_D80G exm1423172 19 9584874 [T/C] NM_152476 ZNF560 Silent exm1423175 19 9584995 [T/C] NM_152476 ZNF560 EXON Missense_V13M exm1423178 19 9639062 [A/C] NM_024106 ZNF426 EXON Missense_I553M exm1423181 19 9639109 [T/C] NM_024106 ZNF426 EXON Missense_G538R exm1423183 19 9639147 [A/G] NM_024106 ZNF426 EXON Missense_T525I exm1423185 19 9639180 [A/G] NM_024106 ZNF426 EXON Missense_T514M exm1423189 19 9639312 [T/C] NM_024106 ZNF426 EXON Missense_H470R exm1423195 19 9639399 [A/G] NM_024106 ZNF426 EXON Missense_T441M exm1423211 19 9639848 [G/C] NM_024106 ZNF426 EXON Nonsense_Y291X exm1423218 19 9640032 [T/C] NM_024106 ZNF426 EXON Missense_G230E exm1423219 19 9640066 [T/C] NM_024106 ZNF426 EXON Missense_T219A exm1423228 19 9640203 [A/G] NM_024106 ZNF426 EXON Missense_T173I exm1423232 19 9640243 [A/G] NM_024106 ZNF426 EXON Missense_C160R exm1423238 19 9641717 [A/C] NM_024106 ZNF426 EXON Missense_W118G exm1423247 19 9645932 [C/G] NM_024106 ZNF426 EXON Missense_V17L exm1423251 19 9646898 [A/G] NM_024106 ZNF426 EXON Missense_A4V exm1423281 19 9677428 [A/G] NM_001008727 ZNF121 EXON Missense_C121R exm1423285 19 9677523 [T/G] NM_001008727 ZNF121 EXON Missense_E89A exm1423292 19 9677625 [A/G] NM_001008727 ZNF121 EXON Missense_A55V exm1423302 19 9720904 [T/C] NM_152289 ZNF561 EXON Missense_E478G exm1958793 19 9721564 [T/C] NM_152289 ZNF561 EXON Missense_C258Y exm1423335 19 9721645 [T/C] NM_152289 ZNF561 EXON Missense_G231E exm1423344 19 9721802 [T/C] NM_152289 ZNF561 EXON Missense_T179A exm1423350 19 9722005 [T/C] NM_152289 ZNF561 EXON Missense_G111D exm1423358 19 9728816 [T/G] NM_152289 ZNF561 EXON Missense_K22T exm1423377 19 9764192 [G/C] NM_001130031,NM_017656,NM_001130032 ZNF562,ZNF562,ZNF562 EXON Missense_E238D,Missense_E166D,Missense_E238D exm1423383 19 9764352 [A/G] NM_001130031,NM_017656,NM_001130032 ZNF562,ZNF562,ZNF562 EXON Missense_F185S,Missense_F113S,Missense_F185S exm1423387 19 9764421 [A/C] NM_001130031,NM_017656,NM_001130032 ZNF562,ZNF562,ZNF562 EXON Missense_S162I,Missense_S90I,Missense_S162I exm1958813 19 9764425 [G/C] NM_001130031,NM_017656,NM_001130032 ZNF562,ZNF562,ZNF562 EXON Missense_D161H,Missense_D89H,Missense_D161H exm1423399 19 9770071 [T/C] NM_001130031,NM_017656,NM_001130032 ZNF562,ZNF562,ZNF562 EXON Missense_R33Q,Silent,Missense_R33Q exm1423404 19 9801052 [T/C] NM_001199814 ZNF812 EXON Missense_R376H exm2230611 19 9801499 [A/C] NM_001199814 ZNF812 EXON Missense_G227V exm1423407 19 9801590 [T/C] NM_001199814 ZNF812 EXON Missense_E197K exm1423411 19 9868152 [T/C] NM_001077624 ZNF846 EXON Synonymous_X534X exm1423413 19 9868213 [T/C] NM_001077624 ZNF846 EXON Missense_N514D exm1423418 19 9868278 [T/C] NM_001077624 ZNF846 EXON Missense_Y492C exm1958847 19 9868371 [C/G] NM_001077624 ZNF846 EXON Missense_R461P exm1423426 19 9868404 [T/C] NM_001077624 ZNF846 EXON Missense_C450Y exm1423429 19 9868449 [A/G] NM_001077624 ZNF846 EXON Missense_S435L exm1423431 19 9868501 [T/C] NM_001077624 ZNF846 EXON Missense_G418R exm1423436 19 9868600 [T/C] NM_001077624 ZNF846 EXON Missense_M385V exm1423438 19 9868623 [T/C] NM_001077624 ZNF846 EXON Missense_R377H exm2230615 19 9868666 [A/C] NM_001077624 ZNF846 EXON Nonsense_E363X exm1423440 19 9868684 [C/G] NM_001077624 ZNF846 EXON Missense_V357L exm1423441 19 9868686 [A/T] NM_001077624 ZNF846 EXON Missense_H356L exm1423443 19 9868708 [A/G] NM_001077624 ZNF846 EXON Missense_H349Y exm1423446 19 9868717 [T/C] NM_001077624 ZNF846 EXON Missense_A346T exm1958852 19 9868764 [C/G] NM_001077624 ZNF846 EXON Missense_R330P exm1423450 19 9868765 [A/G] NM_001077624 ZNF846 EXON Nonsense_R330X exm1423455 19 9868918 [T/C] NM_001077624 ZNF846 EXON Missense_E279K exm1423456 19 9868960 [T/G] NM_001077624 ZNF846 EXON Missense_Q265K exm2254138 19 9869150 [T/C] NM_001077624 ZNF846 EXON Synonymous_K201K exm1423472 19 9869440 [C/G] NM_001077624 ZNF846 EXON Missense_E105Q exm1423473 19 9870535 [A/C] NM_001077624 ZNF846 Silent exm1423486 19 9873963 [T/A] NM_001077624 ZNF846 EXON Missense_I46K exm1423497 19 9921575 [T/C] NM_017703 FBXL12 EXON Missense_M326I exm1423498 19 9921593 [C/G] NM_017703 FBXL12 EXON Missense_E320D exm1423499 19 9921613 [T/C] NM_017703 FBXL12 EXON Missense_V314I exm1423503 19 9921657 [A/G] NM_017703 FBXL12 EXON Missense_A299V exm1423504 19 9921708 [A/G] NM_017703 FBXL12 EXON Missense_P282L exm1423513 19 9921880 [A/G] NM_017703 FBXL12 EXON Missense_R225C exm1423514 19 9921889 [T/C] NM_017703 FBXL12 EXON Missense_A222T exm1423517 19 9921948 [G/C] NM_017703 FBXL12 EXON Missense_S202T exm1423526 19 9922084 [T/C] NM_017703 FBXL12 EXON Missense_V157M exm1423534 19 9922216 [T/C] NM_017703 FBXL12 EXON Missense_D113N exm1423539 19 9922242 [A/G] NM_017703 FBXL12 EXON Missense_L104P exm2272761 19 9945354 [T/C] exm1423577 19 9949308 [A/C] NR_038830,NM_006221,NR_038422 PIN1,PIN1,PIN1 EXON Silent,Synonymous_A85A,Silent exm1423582 19 9959808 [A/G] NR_038830,NM_006221,NR_038422 PIN1,PIN1,PIN1 EXON Silent,Missense_R142Q,Silent exm1423611 19 9965332 [T/G] NM_058164 OLFM2 EXON Missense_L299M exm1423620 19 9967957 [T/C] NM_058164 OLFM2 EXON Missense_A188T exm1423625 19 9968062 [T/C] NM_058164 OLFM2 EXON Missense_V153M exm1423631 19 9968139 [A/G] NM_058164 OLFM2 EXON Missense_T127M exm1423632 19 9968149 [A/C] NM_058164 OLFM2 EXON Missense_D124Y exm1423634 19 9968407 [A/G] NM_058164 OLFM2 EXON Missense_S115L exm1423637 19 9968434 [T/C] NM_058164 OLFM2 EXON Missense_R106Q exm1423638 19 9968437 [A/G] NM_058164 OLFM2 EXON Missense_A105V exm2272815 19 10031745 [T/C] NM_058164 OLFM2 Silent exm1423680 19 10071227 [T/C] NM_015719 COL5A3 EXON Missense_K1700E exm1423686 19 10071347 [T/C] NM_015719 COL5A3 EXON Missense_V1691I exm1423688 19 10071365 [T/C] NM_015719 COL5A3 EXON Missense_T1685A exm1423692 19 10071433 [A/G] NM_015719 COL5A3 EXON Missense_T1662M exm1423696 19 10071493 [A/G] NM_015719 COL5A3 EXON Missense_T1642I exm1423701 19 10071551 [T/C] NM_015719 COL5A3 EXON Missense_A1623T exm1423714 19 10077022 [T/G] NM_015719 COL5A3 EXON Missense_T1584P exm2253599 19 10077053 [T/C] NM_015719 COL5A3 EXON Synonymous_R1573R exm1423746 19 10079093 [T/C] NM_015719 COL5A3 EXON Missense_V1428M exm1423768 19 10081303 [T/C] NM_015719 COL5A3 EXON Missense_K1311E exm1423782 19 10081900 [A/G] NM_015719 COL5A3 EXON Missense_P1270L exm1423783 19 10081919 [A/G] NM_015719 COL5A3 EXON Missense_P1264S exm2276603 19 10084248 [G/C] NM_015719 COL5A3 EXON Missense_P1222A exm2253600 19 10084288 [T/C] NM_015719 COL5A3 EXON Synonymous_G1208G exm1423791 19 10084292 [C/G] NM_015719 COL5A3 EXON Missense_R1207P exm1423796 19 10084460 [A/G] NM_015719 COL5A3 EXON Missense_V1195A exm1423809 19 10084884 [A/G] NM_015719 COL5A3 EXON Missense_P1156L exm1423815 19 10085054 [A/G] NM_015719 COL5A3 EXON Missense_P1125S exm1423817 19 10085062 [T/C] NM_015719 COL5A3 EXON Missense_R1122H exm1423821 19 10087234 [C/G] NM_015719 COL5A3 EXON Synonymous_P1114P exm1423822 19 10087263 [A/G] NM_015719 COL5A3 EXON Missense_R1105W exm1423828 19 10087906 [A/G] NM_015719 COL5A3 EXON Missense_A1096V exm2253602 19 10087908 [A/G] NM_015719 COL5A3 EXON Synonymous_D1095D exm1423832 19 10088055 [T/C] NM_015719 COL5A3 EXON Missense_E1074K exm1423848 19 10089269 [T/G] NM_015719 COL5A3 EXON Missense_P1000Q exm1423878 19 10091365 [T/C] NM_015719 COL5A3 EXON Missense_D855N exm1423883 19 10091529 [A/G] NM_015719 COL5A3 EXON Missense_R838C exm1423887 19 10091775 [A/G] NM_015719 COL5A3 EXON Missense_R832W exm1423894 19 10092760 [A/G] NM_015719 COL5A3 EXON Missense_I814T exm1423907 19 10097073 [T/C] NM_015719 COL5A3 EXON Missense_R757Q exm1423915 19 10097261 [A/G] NM_015719 COL5A3 EXON Missense_F738L exm1423917 19 10097279 [T/C] NM_015719 COL5A3 EXON Missense_E732K exm1423931 19 10099828 [A/G] NM_015719 COL5A3 EXON Missense_P706L exm1423933 19 10099840 [A/G] NM_015719 COL5A3 EXON Missense_S702L exm2275032 19 10099850 [A/G] NM_015719 COL5A3 EXON Missense_P699S exm1423950 19 10102492 [A/G] NM_015719 COL5A3 EXON Missense_P640L exm1423966 19 10103700 [A/G] NM_015719 COL5A3 EXON Missense_P598L exm1423977 19 10104332 [T/C] NM_015719 COL5A3 EXON Missense_D553G exm1423979 19 10104341 [T/C] NM_015719 COL5A3 EXON Missense_R550H exm1423987 19 10106260 [A/G] NM_015719 COL5A3 EXON Missense_P523S exm1424000 19 10106896 [A/G] NM_015719 COL5A3 EXON Missense_R489C exm1424006 19 10107158 [C/G] NM_015719 COL5A3 EXON Missense_P458R exm1424009 19 10107292 [A/G] NM_015719 COL5A3 EXON Missense_P446L exm1424010 19 10107293 [A/G] NM_015719 COL5A3 EXON Missense_P446S exm1919205 19 10108061 [C/G] NM_015719 COL5A3 EXON Missense_D417H exm1424026 19 10108687 [G/C] NM_015719 COL5A3 EXON Missense_E391D exm1424038 19 10112222 [T/C] NM_015719 COL5A3 EXON Missense_R363Q exm1424039 19 10112223 [A/G] NM_015719 COL5A3 EXON Missense_R363W exm1424048 19 10112346 [T/C] NM_015719 COL5A3 EXON Missense_R322G exm1919227 19 10114362 [T/C] NM_015719 COL5A3 EXON Missense_R243H exm1424067 19 10114740 [A/T] NM_015719 COL5A3 EXON Missense_N226Y exm1424084 19 10116548 [T/C] NM_015719 COL5A3 EXON Missense_A121T exm1424095 19 10116766 [A/G] NM_015719 COL5A3 EXON Missense_T77M exm1424096 19 10116776 [T/C] NM_015719 COL5A3 EXON Missense_G74S exm1424108 19 10124190 [A/G] NM_015725 RDH8 EXON Missense_R26Q exm1424115 19 10124253 [A/G] NM_015725 RDH8 EXON Missense_H47R exm1424123 19 10127813 [A/G] NM_015725 RDH8 EXON Missense_V82M exm1424126 19 10127846 [A/G] NM_015725 RDH8 EXON Missense_V93M exm1424151 19 10131999 [T/C] NM_015725 RDH8 EXON Missense_M222T exm1424152 19 10132000 [A/G] NM_015725 RDH8 EXON Missense_M222I exm1424158 19 10132085 [A/G] NM_015725 RDH8 EXON Missense_V251M exm1424164 19 10132252 [T/C] NM_015725 RDH8 EXON Nonsense_R275X exm1424169 19 10132318 [T/C] NM_015725 RDH8 EXON Missense_Y297H exm2228156 19 10132320 [T/G] NM_015725 RDH8 EXON Nonsense_Y297X exm1424171 19 10132337 [A/G] NM_015725 RDH8 EXON Missense_R303H exm1424172 19 10132358 [A/G] NM_015725 RDH8 EXON Missense_R310H exm1424174 19 10132402 [A/C] NM_015725 RDH8 EXON Missense_P325T exm1424176 19 10132409 [A/G] NM_015725 RDH8 EXON Missense_R327Q exm1424246 19 10200337 [T/C] NM_018381 C19orf66 EXON Missense_P67L exm1424252 19 10200617 [A/G] NM_018381 C19orf66 EXON Missense_R93H exm2273569 19 10203214 [T/G] NM_018381,NM_031917 C19orf66,ANGPTL6 EXON Silent,Silent exm1424288 19 10203375 [T/C] NM_018381,NM_031917 C19orf66,ANGPTL6 EXON Silent,Missense_G435S exm1424292 19 10203432 [C/G] NM_018381,NM_031917 C19orf66,ANGPTL6 EXON Silent,Missense_G416R exm1424302 19 10204175 [A/G] NM_031917 ANGPTL6 EXON Missense_R358C exm1424320 19 10204469 [C/G] NM_031917 ANGPTL6 EXON Nonsense_S284X exm1424325 19 10204491 [A/G] NM_031917 ANGPTL6 EXON Nonsense_R277X exm1424328 19 10204529 [A/C] NM_031917 ANGPTL6 EXON Missense_R264L exm1424329 19 10204530 [A/G] NM_031917 ANGPTL6 EXON Missense_R264C exm1424339 19 10206662 [T/C] NM_031917 ANGPTL6 EXON Missense_Q193R exm-rs8109578 19 10213154 [A/G] NM_031917 ANGPTL6 Silent exm1424380 19 10218508 [T/C] NM_001040664,NM_020230,NM_001198690 PPAN-P2RY11,PPAN,PPAN-P2RY11 EXON Missense_T107I,Missense_T107I,Missense_T107I exm1919347 19 10218653 [A/G] NM_001040664,NM_020230,NM_001198690 PPAN-P2RY11,PPAN,PPAN-P2RY11 EXON Missense_R119H,Missense_R119H,Missense_R119H exm1424404 19 10220359 [T/C] NM_001040664,NM_020230,NM_001198690 PPAN-P2RY11,PPAN,PPAN-P2RY11 EXON Missense_S189F,Missense_S189F,Missense_S189F exm1424407 19 10220614 [A/G] NM_001040664,NM_020230,NM_001198690 PPAN-P2RY11,PPAN,PPAN-P2RY11 EXON Missense_A206T,Missense_A206T,Missense_A206T exm1424425 19 10221015 [A/G] NM_001040664,NM_020230,NM_001198690 PPAN-P2RY11,PPAN,PPAN-P2RY11 EXON Missense_T280A,Missense_T280A,Missense_T280A exm1424435 19 10221193 [G/C] NM_001040664,NM_020230,NM_001198690 PPAN-P2RY11,PPAN,PPAN-P2RY11 EXON Missense_L312V,Missense_L312V,Missense_L312V exm1919365 19 10221218 [A/G] NM_001040664,NM_020230,NM_001198690 PPAN-P2RY11,PPAN,PPAN-P2RY11 EXON Missense_R320Q,Missense_R320Q,Missense_R320Q exm1424437 19 10221227 [T/C] NM_001040664,NM_020230,NM_001198690 PPAN-P2RY11,PPAN,PPAN-P2RY11 EXON Missense_A323V,Missense_A323V,Missense_A323V exm1424439 19 10221233 [A/G] NM_001040664,NM_020230,NM_001198690 PPAN-P2RY11,PPAN,PPAN-P2RY11 EXON Missense_R325K,Missense_R325K,Missense_R325K exm1424443 19 10221263 [A/G] NM_001040664,NM_020230,NM_001198690 PPAN-P2RY11,PPAN,PPAN-P2RY11 EXON Missense_R335H,Missense_R335H,Missense_R335H exm1424445 19 10221277 [T/C] NM_001040664,NM_020230,NM_001198690 PPAN-P2RY11,PPAN,PPAN-P2RY11 EXON Missense_R340W,Missense_R340W,Missense_R340W exm1424449 19 10221410 [A/G] NM_001040664,NM_020230,NM_001198690 PPAN-P2RY11,PPAN,PPAN-P2RY11 EXON Missense_G357R,Missense_G357R,Missense_G357R exm1424459 19 10221543 [T/G] NM_001040664,NM_020230,NM_001198690 PPAN-P2RY11,PPAN,PPAN-P2RY11 Silent,Silent,Silent exm1424462 19 10221642 [A/G] NM_001040664,NM_020230,NM_001198690 PPAN-P2RY11,PPAN,PPAN-P2RY11 EXON Missense_Q408R,Missense_Q408R,Missense_Q408R exm1424463 19 10221648 [A/G] NM_001040664,NM_020230,NM_001198690 PPAN-P2RY11,PPAN,PPAN-P2RY11 EXON Missense_R410Q,Missense_R410Q,Missense_R410Q exm1424465 19 10221669 [A/G] NM_001040664,NM_020230,NM_001198690 PPAN-P2RY11,PPAN,PPAN-P2RY11 EXON Missense_R417Q,Missense_R417Q,Missense_R417Q exm1424467 19 10221681 [A/G] NM_001040664,NM_020230,NM_001198690 PPAN-P2RY11,PPAN,PPAN-P2RY11 EXON Missense_R421Q,Missense_R421Q,Missense_R421Q exm1424468 19 10221695 [T/C] NM_001040664,NM_020230,NM_001198690 PPAN-P2RY11,PPAN,PPAN-P2RY11 EXON Nonsense_R426X,Nonsense_R426X,Nonsense_R426X exm1424469 19 10221707 [C/G] NM_001040664,NM_020230,NM_001198690 PPAN-P2RY11,PPAN,PPAN-P2RY11 EXON Silent,Missense_R430G,Missense_R430G exm1424484 19 10222410 [A/G] NM_001040664,NM_001198690,NM_002566 PPAN-P2RY11,PPAN-P2RY11,P2RY11 EXON Silent,Silent,Missense_V5I exm1424488 19 10224346 [T/C] NM_001040664,NM_001198690,NM_002566 PPAN-P2RY11,PPAN-P2RY11,P2RY11 EXON Synonymous_A439A,Missense_P460L,Synonymous_A19A exm1424493 19 10224426 [A/G] NM_001040664,NM_001198690,NM_002566 PPAN-P2RY11,PPAN-P2RY11,P2RY11 EXON Missense_N466S,Missense_M487V,Missense_N46S exm1424495 19 10224430 [A/C] NM_001040664,NM_001198690,NM_002566 PPAN-P2RY11,PPAN-P2RY11,P2RY11 EXON Synonymous_G467G,Missense_A488D,Synonymous_G47G exm1424497 19 10224443 [T/C] NM_001040664,NM_001198690,NM_002566 PPAN-P2RY11,PPAN-P2RY11,P2RY11 EXON Missense_R472C,Synonymous_T492T,Missense_R52C exm1424504 19 10224511 [T/C] NM_001040664,NM_001198690,NM_002566 PPAN-P2RY11,PPAN-P2RY11,P2RY11 EXON Synonymous_S494S,Missense_A515V,Synonymous_S74S exm1424507 19 10224523 [T/C] NM_001040664,NM_001198690,NM_002566 PPAN-P2RY11,PPAN-P2RY11,P2RY11 EXON Synonymous_C498C,Missense_A519V,Synonymous_C78C exm1424509 19 10224526 [T/C] NM_001040664,NM_001198690,NM_002566 PPAN-P2RY11,PPAN-P2RY11,P2RY11 EXON Synonymous_A499A,Missense_P520L,Synonymous_A79A exm1424513 19 10224548 [A/G] NM_001040664,NM_001198690,NM_002566 PPAN-P2RY11,PPAN-P2RY11,P2RY11 EXON Missense_A507T,Silent,Missense_A87T exm1424519 19 10224590 [A/G] NM_001040664,NM_001198690,NM_002566 PPAN-P2RY11,PPAN-P2RY11,P2RY11 EXON Missense_A521T,Silent,Missense_A101T exm1424549 19 10224845 [A/G] NM_001040664,NM_001198690,NM_002566 PPAN-P2RY11,PPAN-P2RY11,P2RY11 EXON Missense_E606K,Silent,Missense_E186K exm1424565 19 10225032 [T/C] NM_001040664,NM_001198690,NM_002566 PPAN-P2RY11,PPAN-P2RY11,P2RY11 EXON Missense_A668V,Silent,Missense_A248V exm1424572 19 10225071 [A/G] NM_001040664,NM_001198690,NM_002566 PPAN-P2RY11,PPAN-P2RY11,P2RY11 EXON Missense_Y681C,Silent,Missense_Y261C exm1424578 19 10225115 [T/C] NM_001040664,NM_001198690,NM_002566 PPAN-P2RY11,PPAN-P2RY11,P2RY11 EXON Missense_R696W,Silent,Missense_R276W exm1424586 19 10225189 [C/G] NM_001040664,NM_001198690,NM_002566 PPAN-P2RY11,PPAN-P2RY11,P2RY11 EXON Nonsense_Y720X,Silent,Nonsense_Y300X exm1424589 19 10225208 [T/C] NM_001040664,NM_001198690,NM_002566 PPAN-P2RY11,PPAN-P2RY11,P2RY11 EXON Missense_R727W,Silent,Missense_R307W exm1424598 19 10225260 [T/C] NM_001040664,NM_001198690,NM_002566 PPAN-P2RY11,PPAN-P2RY11,P2RY11 EXON Missense_A744V,Silent,Missense_A324V exm1424601 19 10225286 [T/C] NM_001040664,NM_001198690,NM_002566 PPAN-P2RY11,PPAN-P2RY11,P2RY11 EXON Nonsense_R753X,Silent,Nonsense_R333X exm1424603 19 10225308 [A/G] NM_001040664,NM_001198690,NM_002566 PPAN-P2RY11,PPAN-P2RY11,P2RY11 EXON Missense_D760G,Silent,Missense_D340G exm1424611 19 10225370 [A/G] NM_001040664,NM_001198690,NM_002566 PPAN-P2RY11,PPAN-P2RY11,P2RY11 EXON Missense_A781T,Silent,Missense_A361T exm1424644 19 10226495 [A/G] NM_003755 EIF3G EXON Synonymous_A235A exm1424674 19 10229397 [G/C] NM_003755 EIF3G EXON Missense_R83G exm2253604 19 10229580 [T/C] NM_003755 EIF3G EXON Synonymous_T68T exm1919437 19 10230531 [A/G] NM_003755 EIF3G EXON Missense_P2L exm1424706 19 10247806 [A/G] NM_001379,NM_001130823 DNMT1,DNMT1 EXON Missense_R1466C,Missense_R1482C exm1424707 19 10247822 [A/C] NM_001379,NM_001130823 DNMT1,DNMT1 EXON Missense_H1460Q,Missense_H1476Q exm1424739 19 10250869 [A/G] NM_001379,NM_001130823 DNMT1,DNMT1 EXON Missense_T1204I,Missense_T1220I exm1919460 19 10251567 [G/C] NM_001379,NM_001130823 DNMT1,DNMT1 EXON Missense_S1122C,Missense_S1138C exm1424766 19 10254644 [T/C] NM_001379,NM_001130823 DNMT1,DNMT1 EXON Missense_V956M,Missense_V972M exm1424772 19 10259587 [A/G] NM_001379,NM_001130823 DNMT1,DNMT1 EXON Missense_T882I,Missense_T898I exm1424776 19 10259654 [T/C] NM_001379,NM_001130823 DNMT1,DNMT1 EXON Missense_G860R,Missense_G876R exm1424781 19 10260244 [A/G] NM_001379,NM_001130823 DNMT1,DNMT1 EXON Missense_T808M,Missense_T824M exm1424787 19 10260328 [A/G] NM_001379,NM_001130823 DNMT1,DNMT1 EXON Missense_T780M,Missense_T796M exm1424820 19 10270719 [G/C] NM_001379,NM_001130823 DNMT1,DNMT1 EXON Missense_R339P,Missense_R355P exm1424836 19 10273370 [A/C] NM_001379,NM_001130823 DNMT1,DNMT1 EXON Missense_I311M,Missense_I327M exm1424837 19 10273372 [T/C] NM_001379,NM_001130823 DNMT1,DNMT1 EXON Missense_I311V,Missense_I327V exm1424838 19 10273374 [T/G] NM_001379,NM_001130823 DNMT1,DNMT1 EXON Missense_Q310P,Missense_Q326P exm2228164 19 10273416 [T/C] NM_001379,NM_001130823 DNMT1,DNMT1 EXON Missense_K296R,Missense_K312R exm1424841 19 10274003 [G/C] NM_001379,NM_001130823 DNMT1,DNMT1 EXON Missense_L293V,Missense_L309V exm1424849 19 10277275 [T/C] NM_001379,NM_001130823 DNMT1,DNMT1 EXON Missense_K281R,Missense_K297R exm1424861 19 10283803 [T/C] NM_001379,NM_001130823 DNMT1,DNMT1 EXON Missense_G228E,Missense_G244E exm2228165 19 10283817 [T/G] NM_001379,NM_001130823 DNMT1,DNMT1 EXON Missense_E223D,Missense_E239D exm1424869 19 10286289 [A/G] NM_001379,NM_001130823 DNMT1,DNMT1 EXON Missense_A176V,Missense_A192V exm1424884 19 10291089 [T/G] NM_001379,NM_001130823 DNMT1,DNMT1 EXON Missense_P128T,Missense_P128T exm1424886 19 10291113 [G/C] NM_001379,NM_001130823 DNMT1,DNMT1 EXON Missense_V120L,Missense_V120L exm1424891 19 10291181 [T/C] NM_001379,NM_001130823 DNMT1,DNMT1 EXON Missense_H97R,Missense_H97R exm1424893 19 10291473 [T/C] NM_001379,NM_001130823 DNMT1,DNMT1 EXON Missense_R69H,Missense_R69H exm1424915 19 10334725 [A/G] NM_004230 S1PR2 EXON Missense_V286A exm1424916 19 10334756 [T/C] NM_004230 S1PR2 EXON Missense_V276I exm1424929 19 10334909 [T/C] NM_004230 S1PR2 EXON Missense_A225T exm1424931 19 10334932 [T/C] NM_004230 S1PR2 EXON Missense_R217H exm1424941 19 10335053 [T/C] NM_004230 S1PR2 EXON Missense_E177K exm2228167 19 10335403 [T/C] NM_004230 S1PR2 EXON Missense_R60Q exm1424964 19 10335511 [A/G] NM_004230 S1PR2 EXON Missense_T24M exm1424965 19 10335552 [T/G] NM_004230 S1PR2 EXON Missense_N10K exm2275033 19 10363117 [A/C] NM_015956,NM_146388,NM_146387 MRPL4,MRPL4,MRPL4 EXON Missense_N34K,Missense_N34K,Missense_N34K exm1424979 19 10363251 [A/C] NM_015956,NM_146388,NM_146387 MRPL4,MRPL4,MRPL4 EXON Missense_K50T,Missense_K50T,Missense_K50T exm1424981 19 10363280 [T/C] NM_015956,NM_146388,NM_146387 MRPL4,MRPL4,MRPL4 EXON Missense_R60C,Missense_R60C,Missense_R60C exm1424983 19 10363310 [T/C] NM_015956,NM_146388,NM_146387 MRPL4,MRPL4,MRPL4 EXON Missense_R70W,Missense_R70W,Missense_R70W exm1424986 19 10363376 [A/G] NM_015956,NM_146388,NM_146387 MRPL4,MRPL4,MRPL4 EXON Missense_R92G,Missense_R92G,Missense_R92G exm1425000 19 10368919 [A/G] NM_015956,NM_146388,NM_146387 MRPL4,MRPL4,MRPL4 EXON Missense_R156Q,Missense_R156Q,Missense_R156Q exm1425003 19 10368990 [A/G] NM_015956,NM_146388,NM_146387 MRPL4,MRPL4,MRPL4 EXON Missense_V180I,Missense_V180I,Missense_V180I exm1425009 19 10369128 [A/G] NM_015956,NM_146388,NM_146387 MRPL4,MRPL4,MRPL4 EXON Missense_G198R,Missense_G198R,Missense_G198R exm1425011 19 10369156 [T/C] NM_015956,NM_146388,NM_146387 MRPL4,MRPL4,MRPL4 EXON Missense_A207V,Missense_A207V,Missense_A207V exm1425019 19 10369289 [T/C] NM_015956,NM_146388,NM_146387 MRPL4,MRPL4,MRPL4 EXON Missense_H223Y,Missense_H223Y,Missense_H223Y exm1425024 19 10369331 [T/C] NM_015956,NM_146388,NM_146387 MRPL4,MRPL4,MRPL4 EXON Missense_L237F,Missense_L237F,Missense_L237F exm1425025 19 10369389 [T/C] NM_015956,NM_146388,NM_146387 MRPL4,MRPL4,MRPL4 EXON Silent,Missense_V256A,Silent exm1425029 19 10370310 [A/G] NM_015956,NM_146388,NM_146387 MRPL4,MRPL4,MRPL4 EXON Missense_M253V,Silent,Missense_M253V exm1425038 19 10370403 [T/C] NM_015956,NM_146388,NM_146387 MRPL4,MRPL4,MRPL4 EXON Missense_Y284H,Silent,Missense_Y284H exm1425059 19 10385517 [A/C] NM_000201 ICAM1 EXON Nonsense_C48X exm1425060 19 10385540 [A/T] NM_000201 ICAM1 EXON Missense_K56M exm1425084 19 10394396 [G/C] NM_000201 ICAM1 EXON Missense_D191H exm2228173 19 10394403 [A/G] NM_000201 ICAM1 EXON Missense_R193Q exm1425089 19 10394455 [T/G] NM_000201 ICAM1 EXON Missense_Q210H exm1425090 19 10394724 [T/C] NM_000201 ICAM1 EXON Missense_P218L exm1425100 19 10394792 [A/G] NM_000201 ICAM1 EXON Missense_G241R exm1425109 19 10394909 [A/G] NM_000201 ICAM1 EXON Missense_A280T exm1425120 19 10395096 [A/G] NM_000201 ICAM1 EXON Missense_V315M exm1425123 19 10395141 [A/G] NM_000201 ICAM1 EXON Missense_V330M exm1425124 19 10395175 [T/C] NM_000201 ICAM1 EXON Missense_T341M exm1425126 19 10395208 [T/C] NM_000201 ICAM1 EXON Missense_P352L exm1425131 19 10395252 [T/C] NM_000201 ICAM1 EXON Missense_R367C exm1425138 19 10395315 [T/C] NM_000201 ICAM1 EXON Missense_R388W exm1425142 19 10395468 [A/G] NM_000201 ICAM1 EXON Missense_R397Q exm2253605 19 10395475 [T/C] NM_000201 ICAM1 EXON Synonymous_D399D exm1425145 19 10395489 [T/C] NM_000201 ICAM1 EXON Missense_P404L exm1425149 19 10395560 [A/G] NM_000201 ICAM1 EXON Missense_E428K exm1425151 19 10395614 [A/G] NM_000201 ICAM1 EXON Missense_T446A exm1425155 19 10395650 [T/C] NM_000201 ICAM1 EXON Missense_R458W exm1425160 19 10395683 [A/G] NM_000201 ICAM1 EXON Missense_K469E exm1425162 19 10395796 [T/C] NM_000201 ICAM1 EXON Missense_R478W exm1425165 19 10395877 [T/C] NM_000201 ICAM1 EXON Missense_R505C exm-rs281437 19 10397238 [T/C] NM_000201 ICAM1 EXON Silent exm-rs3093030 19 10397403 [T/C] exm1425177 19 10397870 [T/C] NM_022377,NM_001039132,NM_001544 ICAM4,ICAM4,ICAM4 EXON Missense_P61L,Missense_P61L,Missense_P61L exm1425178 19 10397876 [A/G] NM_022377,NM_001039132,NM_001544 ICAM4,ICAM4,ICAM4 EXON Missense_K63R,Missense_K63R,Missense_K63R exm1425184 19 10397987 [A/G] NM_022377,NM_001039132,NM_001544 ICAM4,ICAM4,ICAM4 EXON Missense_Q100R,Missense_Q100R,Missense_Q100R exm1425197 19 10398326 [A/G] NM_022377,NM_001039132,NM_001544 ICAM4,ICAM4,ICAM4 EXON Missense_H170R,Synonymous_A144A,Missense_H170R exm1425201 19 10398430 [T/C] NM_022377,NM_001039132,NM_001544 ICAM4,ICAM4,ICAM4 EXON Missense_W205R,Missense_L179P,Missense_W205R exm1425202 19 10398439 [G/C] NM_022377,NM_001039132,NM_001544 ICAM4,ICAM4,ICAM4 EXON Missense_V208L,Missense_R182P,Missense_V208L exm1425203 19 10398465 [T/C] NM_022377,NM_001039132,NM_001544 ICAM4,ICAM4,ICAM4 EXON Synonymous_L216L,Nonsense_R191X,Synonymous_L216L exm1425210 19 10398842 [A/G] NM_022377,NM_001039132,NM_001544 ICAM4,ICAM4,ICAM4 EXON Silent,Missense_M267I,Silent exm1425239 19 10402720 [T/C] NM_003259 ICAM5 EXON Missense_P228L exm1425248 19 10403321 [C/G] NM_003259 ICAM5 EXON Missense_P332R exm1425249 19 10403359 [A/G] NM_003259 ICAM5 EXON Missense_A345T exm1425251 19 10403368 [A/G] NM_003259 ICAM5 EXON Missense_A348T exm1425262 19 10403788 [T/C] NM_003259 ICAM5 EXON Missense_A444V exm2275034 19 10403815 [T/C] NM_003259 ICAM5 EXON Missense_A453V exm1425268 19 10403878 [A/G] NM_003259 ICAM5 EXON Missense_N474S exm1425271 19 10404394 [A/G] NM_003259 ICAM5 EXON Missense_V496M exm1425288 19 10404988 [A/G] NM_003259 ICAM5 EXON Missense_A662T exm1425291 19 10405284 [A/C] NM_003259 ICAM5 EXON Missense_T733K exm1425304 19 10415781 [T/C] NM_001103167 ZGLP1 EXON Missense_I268V exm1425305 19 10415795 [A/C] NM_001103167 ZGLP1 EXON Missense_V263G exm1425311 19 10416527 [T/G] NM_001103167 ZGLP1 EXON Missense_A200D exm1425314 19 10416554 [G/C] NM_001103167 ZGLP1 EXON Missense_T191S exm1425317 19 10416617 [A/C] NM_001103167 ZGLP1 EXON Missense_S170I exm1425330 19 10419305 [G/C] NM_001103167 ZGLP1 EXON Missense_P18R exm1425332 19 10419333 [C/G] NM_001103167 ZGLP1 EXON Missense_V9L exm1425353 19 10426070 [T/C] NM_001031734 FDX1L EXON Missense_D100G exm1425366 19 10426597 [T/C] NM_001031734 FDX1L EXON Missense_R26G exm1425368 19 10426651 [T/C] NM_001031734 FDX1L EXON Missense_G8R exm1425377 19 10428162 [C/G] NM_133452 RAVER1 EXON Missense_D747H exm1425403 19 10429859 [T/C] NM_133452 RAVER1 EXON Missense_G627R exm1425406 19 10431344 [A/G] NM_133452 RAVER1 EXON Missense_F603S exm1425420 19 10432222 [T/C] NM_133452 RAVER1 EXON Missense_G433R exm1425427 19 10433379 [T/C] NM_133452 RAVER1 EXON Missense_N389S exm1425432 19 10433913 [T/C] NM_133452 RAVER1 EXON Missense_N346S exm2253606 19 10439351 [T/C] NM_133452 RAVER1 EXON Synonymous_A258A exm1425441 19 10439351 [T/C] NM_133452 RAVER1 EXON Synonymous_A258A exm2253607 19 10439540 [A/G] NM_133452 RAVER1 EXON Synonymous_A195A exm1425451 19 10439571 [T/C] NM_133452 RAVER1 EXON Missense_R185H exm1425461 19 10439724 [T/C] NM_133452 RAVER1 EXON Missense_R134H exm1425468 19 10443981 [T/C] NM_133452 RAVER1 EXON Missense_G85E exm1425473 19 10444074 [A/G] NM_133452 RAVER1 EXON Missense_P54L exm1425476 19 10444120 [T/C] NM_133452 RAVER1 EXON Missense_E39K exm1425478 19 10444149 [T/G] NM_133452 RAVER1 EXON Missense_P29Q exm1425483 19 10444558 [A/C] NM_002162 ICAM3 EXON Missense_G540V exm1425486 19 10444603 [G/C] NM_002162 ICAM3 EXON Missense_S525T exm1425492 19 10444712 [A/C] NM_002162 ICAM3 EXON Missense_V489F exm1425500 19 10445000 [T/C] NM_002162 ICAM3 EXON Missense_R426K exm1425502 19 10445218 [T/C] NM_002162 ICAM3 EXON Missense_Q393R exm1919760 19 10445269 [T/C] NM_002162 ICAM3 EXON Missense_S376N exm1425515 19 10445750 [T/G] NM_002162 ICAM3 EXON Missense_T310K exm1425517 19 10445805 [T/C] NM_002162 ICAM3 EXON Missense_I292V exm2253608 19 10445953 [A/G] NM_002162 ICAM3 EXON Synonymous_T242T exm1425536 19 10446494 [T/C] NM_002162 ICAM3 EXON Missense_E168K exm1425539 19 10446568 [T/C] NM_002162 ICAM3 EXON Missense_D143G exm1425543 19 10449358 [T/C] NM_002162 ICAM3 EXON Missense_R115G exm1425550 19 10449439 [T/C] NM_002162 ICAM3 EXON Missense_V88M exm1425553 19 10449508 [A/C] NM_002162 ICAM3 EXON Missense_L65V exm1425554 19 10449514 [T/C] NM_002162 ICAM3 EXON Missense_I63V exm1425560 19 10450233 [A/G] NM_002162 ICAM3 EXON Missense_C20R exm1425567 19 10461514 [T/C] NM_003331 TYK2 EXON Missense_C1187Y exm1425571 19 10461586 [T/C] NM_003331 TYK2 EXON Missense_E1163G exm1425579 19 10463118 [G/C] NM_003331 TYK2 EXON Missense_P1104A exm1425587 19 10464252 [C/G] NM_003331 TYK2 EXON Missense_H993Q exm1425597 19 10464843 [A/G] NM_003331 TYK2 EXON Missense_A928V exm1425605 19 10467250 [A/G] NM_003331 TYK2 EXON Missense_P871S exm1425614 19 10468447 [T/G] NM_003331 TYK2 EXON Missense_P820H exm1425615 19 10468453 [T/C] NM_003331 TYK2 EXON Missense_R818H exm1425616 19 10468465 [A/G] NM_003331 TYK2 EXON Missense_P814L exm1425625 19 10468708 [A/C] NM_003331 TYK2 EXON Missense_G761V exm1425636 19 10469919 [A/G] NM_003331 TYK2 EXON Missense_R703W exm1919834 19 10469924 [G/C] NM_003331 TYK2 EXON Missense_R701T exm1425639 19 10469975 [A/C] NM_003331 TYK2 EXON Missense_I684S exm1425642 19 10472198 [G/C] NM_003331 TYK2 EXON Missense_R679P exm1425646 19 10472249 [A/G] NM_003331 TYK2 EXON Missense_M662T exm1425654 19 10472586 [A/G] NM_003331 TYK2 EXON Missense_R607C exm1425655 19 10472598 [T/C] NM_003331 TYK2 EXON Missense_V603M exm1919850 19 10472964 [A/G] NM_003331 TYK2 EXON Missense_R549C exm1425671 19 10473107 [T/C] NM_003331 TYK2 EXON Missense_R501Q exm1425673 19 10473123 [T/C] NM_003331 TYK2 EXON Missense_G496S exm1425676 19 10473233 [A/G] NM_003331 TYK2 EXON Missense_R490C exm1425696 19 10475595 [A/G] NM_003331 TYK2 EXON Missense_R381W exm1425699 19 10475652 [A/C] NM_003331 TYK2 EXON Missense_V362F exm1425703 19 10475710 [C/G] NM_003331 TYK2 EXON Missense_S342R exm1919880 19 10476477 [A/G] NM_003331 TYK2 EXON Missense_R243W exm1425730 19 10477132 [T/C] NM_003331 TYK2 EXON Missense_R197H exm1425749 19 10478867 [T/C] NM_003331 TYK2 EXON Missense_R110Q exm1425754 19 10479032 [T/G] NM_003331 TYK2 EXON Missense_P86T exm1425757 19 10488926 [T/C] NM_003331 TYK2 EXON Missense_A53T exm1425762 19 10489039 [A/G] NM_003331 TYK2 EXON Missense_V15A exm1425770 19 10502285 [T/C] NM_007065 CDC37 EXON Missense_G360E exm1425795 19 10504086 [T/C] NM_007065 CDC37 EXON Missense_N253S exm1425797 19 10505719 [G/C] NM_007065 CDC37 EXON Missense_R235P exm1425821 19 10506707 [T/C] NM_007065 CDC37 EXON Missense_R92H exm1425827 19 10506814 [C/G] NM_007065 CDC37 EXON Missense_E56D exm1919940 19 10506819 [A/G] NM_007065 CDC37 EXON Missense_R55C exm1425874 19 10541683 [G/C] NM_001243121,NM_001111307,NM_001111308 PDE4A,PDE4A,PDE4A EXON Silent,Silent,Missense_P55A exm2253611 19 10546771 [A/G] NM_001243121,NM_001111307,NM_001111308,NM_001111309 PDE4A,PDE4A,PDE4A,PDE4A Silent,Silent,Silent,Silent exm1425908 19 10568600 [A/G] NM_001243121,NM_001111307,NM_001111308,NM_001111309,NM_006202 PDE4A,PDE4A,PDE4A,PDE4A,PDE4A EXON Missense_R286Q,Missense_R308Q,Missense_R282Q,Missense_R247Q,Missense_R69Q exm1425914 19 10568668 [T/C] NM_001243121,NM_001111307,NM_001111308,NM_001111309,NM_006202 PDE4A,PDE4A,PDE4A,PDE4A,PDE4A EXON Missense_P309S,Missense_P331S,Missense_P305S,Missense_P270S,Missense_P92S exm1425916 19 10568726 [G/C] NM_001243121,NM_001111307,NM_001111308,NM_001111309,NM_006202 PDE4A,PDE4A,PDE4A,PDE4A,PDE4A EXON Missense_S328C,Missense_S350C,Missense_S324C,Missense_S289C,Missense_S111C exm1425925 19 10570274 [T/C] NM_001243121,NM_001111307,NM_001111308,NM_001111309,NM_006202 PDE4A,PDE4A,PDE4A,PDE4A,PDE4A EXON Missense_R380W,Missense_R402W,Missense_R376W,Missense_R341W,Missense_R163W exm1425926 19 10570275 [A/G] NM_001243121,NM_001111307,NM_001111308,NM_001111309,NM_006202 PDE4A,PDE4A,PDE4A,PDE4A,PDE4A EXON Missense_R380Q,Missense_R402Q,Missense_R376Q,Missense_R341Q,Missense_R163Q exm1425939 19 10572271 [A/G] NM_001243121,NM_001111307,NM_001111308,NM_001111309,NM_006202 PDE4A,PDE4A,PDE4A,PDE4A,PDE4A EXON Missense_K490R,Missense_K512R,Missense_K486R,Missense_K451R,Missense_K273R exm1425940 19 10572324 [T/C] NM_001243121,NM_001111307,NM_001111308,NM_001111309,NM_006202 PDE4A,PDE4A,PDE4A,PDE4A,PDE4A EXON Missense_R508W,Missense_R530W,Missense_R504W,Missense_R469W,Missense_R291W exm2253612 19 10574549 [T/C] NM_001243121,NM_001111307,NM_001111308,NM_001111309,NM_006202 PDE4A,PDE4A,PDE4A,PDE4A,PDE4A EXON Synonymous_R586R,Synonymous_R608R,Synonymous_R582R,Synonymous_R547R,Synonymous_R369R exm1425961 19 10577710 [A/G] NM_001243121,NM_001111307,NM_001111308,NM_001111309,NM_006202 PDE4A,PDE4A,PDE4A,PDE4A,PDE4A EXON Missense_E670K,Missense_E692K,Missense_E666K,Missense_E631K,Missense_E453K exm1425967 19 10577831 [A/G] NM_001243121,NM_001111307,NM_001111308,NM_001111309,NM_006202 PDE4A,PDE4A,PDE4A,PDE4A,PDE4A EXON Missense_E710G,Missense_E732G,Missense_E706G,Missense_E671G,Missense_E493G exm1425969 19 10577843 [A/C] NM_001243121,NM_001111307,NM_001111308,NM_001111309,NM_006202 PDE4A,PDE4A,PDE4A,PDE4A,PDE4A EXON Missense_A714E,Missense_A736E,Missense_A710E,Missense_A675E,Missense_A497E exm2228196 19 10578074 [C/G] NM_001243121,NM_001111307,NM_001111308,NM_001111309,NM_006202 PDE4A,PDE4A,PDE4A,PDE4A,PDE4A EXON Missense_A791G,Missense_A813G,Missense_A787G,Missense_A752G,Missense_A574G exm1425983 19 10578161 [T/C] NM_001243121,NM_001111307,NM_001111308,NM_001111309,NM_006202 PDE4A,PDE4A,PDE4A,PDE4A,PDE4A EXON Missense_T820M,Missense_T842M,Missense_T816M,Missense_T781M,Missense_T603M exm1425985 19 10578194 [A/G] NM_001243121,NM_001111307,NM_001111308,NM_001111309,NM_006202 PDE4A,PDE4A,PDE4A,PDE4A,PDE4A EXON Missense_Q831R,Missense_Q853R,Missense_Q827R,Missense_Q792R,Missense_Q614R exm1426010 19 10600042 [T/C] NM_012289,NM_203500 KEAP1,KEAP1 EXON Missense_V512I,Missense_V512I exm1426022 19 10602344 [A/G] NM_012289,NM_203500 KEAP1,KEAP1 EXON Missense_P412S,Missense_P412S exm1426023 19 10602379 [A/G] NM_012289,NM_203500 KEAP1,KEAP1 EXON Missense_T400I,Missense_T400I exm1426059 19 10610666 [T/C] NM_012289,NM_203500 KEAP1,KEAP1 EXON Missense_R15Q,Missense_R15Q exm1920100 19 10610685 [T/C] NM_012289,NM_203500 KEAP1,KEAP1 EXON Missense_G9R,Missense_G9R exm1426063 19 10624508 [T/C] NM_001166215,NM_030760 S1PR5,S1PR5 EXON Missense_E394K,Missense_E394K exm1426064 19 10624510 [G/C] NM_001166215,NM_030760 S1PR5,S1PR5 EXON Nonsense_S393X,Nonsense_S393X exm1426065 19 10624525 [T/G] NM_001166215,NM_030760 S1PR5,S1PR5 EXON Missense_A388D,Missense_A388D exm1426071 19 10624735 [T/A] NM_001166215,NM_030760 S1PR5,S1PR5 EXON Missense_L318Q,Missense_L318Q exm1426073 19 10624765 [A/T] NM_001166215,NM_030760 S1PR5,S1PR5 EXON Missense_L308H,Missense_L308H exm1920112 19 10624838 [T/C] NM_001166215,NM_030760 S1PR5,S1PR5 EXON Missense_V284I,Missense_V284I exm1426086 19 10625014 [C/G] NM_001166215,NM_030760 S1PR5,S1PR5 EXON Missense_R225P,Missense_R225P exm1426087 19 10625033 [T/C] NM_001166215,NM_030760 S1PR5,S1PR5 EXON Missense_V219I,Missense_V219I exm2253613 19 10625448 [T/C] NM_001166215,NM_030760 S1PR5,S1PR5 EXON Synonymous_L80L,Synonymous_L80L exm1426117 19 10655489 [A/G] NM_032885 ATG4D EXON Missense_S89N exm1426126 19 10655697 [C/G] NM_032885 ATG4D EXON Missense_F128L exm1426130 19 10657547 [T/C] NM_032885 ATG4D EXON Missense_P176S exm1426141 19 10657719 [T/G] NM_032885 ATG4D EXON Missense_V233G exm1426143 19 10657770 [T/C] NM_032885 ATG4D EXON Missense_S250L exm1426146 19 10657890 [A/G] NM_032885 ATG4D EXON Missense_V266I exm1426147 19 10657911 [A/G] NM_032885 ATG4D EXON Missense_V273I exm1426152 19 10659583 [A/G] NM_032885 ATG4D EXON Missense_Y280C exm1426160 19 10662621 [T/C] NM_032885 ATG4D EXON Nonsense_R339X exm1426172 19 10662902 [T/C] NM_032885 ATG4D EXON Missense_R382C exm1426177 19 10662941 [A/G] NM_032885 ATG4D EXON Missense_V395M exm1426181 19 10663564 [T/C] NM_032885 ATG4D EXON Missense_L416F exm1426190 19 10664632 [A/G] NM_023008 KRI1 EXON Missense_S709P exm1426191 19 10664641 [T/G] NM_023008 KRI1 EXON Missense_K706Q exm1426194 19 10664661 [T/C] NM_023008 KRI1 EXON Missense_R699Q exm1426212 19 10665772 [T/C] NM_023008 KRI1 EXON Missense_C597Y exm1426215 19 10665803 [A/G] NM_023008 KRI1 EXON Missense_W587R exm1426222 19 10665995 [A/G] NM_023008 KRI1 EXON Missense_R556W exm1426229 19 10668293 [T/C] NM_023008 KRI1 EXON Missense_D524N exm1426231 19 10668308 [T/C] NM_023008 KRI1 EXON Missense_E519K exm1426240 19 10668446 [A/G] NM_023008 KRI1 EXON Synonymous_P501P exm1426242 19 10668457 [T/C] NM_023008 KRI1 EXON Missense_V498M exm1426244 19 10668480 [A/G] NM_023008 KRI1 EXON Missense_A490V exm1426245 19 10668481 [T/C] NM_023008 KRI1 EXON Missense_A490T exm1426256 19 10668673 [A/G] NM_023008 KRI1 EXON Missense_L451P exm1426278 19 10670147 [A/C] NM_023008 KRI1 EXON Missense_I367S exm1426286 19 10670344 [T/C] NM_023008 KRI1 EXON Missense_R329H exm1920204 19 10670348 [A/G] NM_023008 KRI1 EXON Missense_R328C exm1426288 19 10670351 [T/C] NM_023008 KRI1 EXON Missense_V327M exm1426290 19 10670360 [T/C] NM_023008 KRI1 EXON Missense_A324T exm1426291 19 10670366 [T/C] NM_023008 KRI1 EXON Missense_S322G exm1426294 19 10670487 [A/G] NM_023008 KRI1 EXON Missense_S315L exm1426306 19 10670992 [T/C] NM_023008 KRI1 EXON Missense_E272K exm1426313 19 10671694 [A/C] NM_023008 KRI1 EXON Missense_D222E exm1426314 19 10671868 [A/G] NM_023008 KRI1 EXON Missense_R194C exm1426316 19 10671894 [T/G] NM_023008 KRI1 EXON Missense_E185A exm1426319 19 10671937 [A/G] NM_023008 KRI1 EXON Missense_R171W exm1426322 19 10672350 [T/C] NM_023008 KRI1 EXON Missense_K167E exm1426327 19 10672493 [T/C] NM_023008 KRI1 EXON Missense_G144R exm1426347 19 10676584 [T/C] NM_023008 KRI1 EXON Missense_R37Q exm1426356 19 10676681 [T/C] NM_023008 KRI1 EXON Missense_T5A exm1426359 19 10677811 [A/G] NM_001800,NM_079421 CDKN2D,CDKN2D EXON Missense_P142S,Missense_P142S exm1920236 19 10677874 [A/C] NM_001800,NM_079421 CDKN2D,CDKN2D EXON Missense_A121S,Missense_A121S exm1426376 19 10685094 [A/G] NM_005498 AP1M2 EXON Synonymous_G416G exm1426378 19 10685129 [T/C] NM_005498 AP1M2 EXON Missense_A405T exm1426379 19 10685155 [T/C] NM_005498 AP1M2 EXON Missense_K396R exm1426386 19 10685694 [T/C] NM_005498 AP1M2 EXON Synonymous_E353E exm2253614 19 10685694 [T/C] NM_005498 AP1M2 EXON Synonymous_E353E exm1426387 19 10687874 [T/C] NM_005498 AP1M2 EXON Synonymous_P349P exm1426388 19 10687875 [A/G] NM_005498 AP1M2 EXON Missense_P349L exm1426391 19 10687975 [T/C] NM_005498 AP1M2 EXON Missense_V316I exm1426399 19 10691940 [A/G] NM_005498 AP1M2 Silent exm2253615 19 10692000 [T/C] NM_005498 AP1M2 EXON Synonymous_S205S exm2253616 19 10692051 [A/G] NM_005498 AP1M2 EXON Synonymous_S188S exm1426406 19 10692051 [A/G] NM_005498 AP1M2 EXON Synonymous_S188S exm1426421 19 10692511 [T/C] NM_005498 AP1M2 EXON Missense_R104Q exm2253617 19 10692546 [A/G] NM_005498 AP1M2 EXON Synonymous_C92C exm1426424 19 10694295 [T/C] NM_005498 AP1M2 EXON Missense_Y85C exm1426433 19 10694671 [A/G] NM_005498 AP1M2 EXON Missense_R40W exm1426450 19 10736346 [A/G] NM_001145056,NM_020428 SLC44A2,SLC44A2 EXON Silent,Missense_G13R exm1426458 19 10738409 [A/G] NM_001145056,NM_020428 SLC44A2,SLC44A2 EXON Missense_D31G,Missense_D33G exm1426459 19 10738415 [T/C] NM_001145056,NM_020428 SLC44A2,SLC44A2 EXON Missense_I33T,Missense_I35T exm1426465 19 10738626 [T/C] NM_001145056,NM_020428 SLC44A2,SLC44A2 EXON Missense_I62T,Missense_I64T exm1426468 19 10738643 [T/C] NM_001145056,NM_020428 SLC44A2,SLC44A2 EXON Missense_R68W,Missense_R70W exm1426476 19 10741957 [G/C] NM_001145056,NM_020428 SLC44A2,SLC44A2 EXON Missense_V111L,Missense_V113L exm1426482 19 10742166 [T/C] NM_001145056,NM_020428 SLC44A2,SLC44A2 EXON Missense_L151F,Missense_L153F exm1426483 19 10742170 [A/G] NM_001145056,NM_020428 SLC44A2,SLC44A2 EXON Missense_Q152R,Missense_Q154R exm1426507 19 10745467 [T/C] NM_001145056,NM_020428 SLC44A2,SLC44A2 EXON Missense_R285C,Missense_R287C exm1426509 19 10745479 [A/G] NM_001145056,NM_020428 SLC44A2,SLC44A2 EXON Missense_G289S,Missense_G291S exm1426510 19 10745516 [T/C] NM_001145056,NM_020428 SLC44A2,SLC44A2 EXON Missense_T301M,Missense_T303M exm1426512 19 10745525 [A/G] NM_001145056,NM_020428 SLC44A2,SLC44A2 EXON Missense_R304Q,Missense_R306Q exm1426527 19 10746172 [T/C] NM_001145056,NM_020428 SLC44A2,SLC44A2 EXON Missense_A403V,Missense_A405V exm1426534 19 10747150 [T/C] NM_001145056,NM_020428 SLC44A2,SLC44A2 EXON Missense_A460V,Missense_A462V exm1426542 19 10748382 [G/C] NM_001145056,NM_020428 SLC44A2,SLC44A2 EXON Missense_E550Q,Missense_E552Q exm1426557 19 10748917 [T/C] NM_001145056,NM_020428 SLC44A2,SLC44A2 EXON Missense_F617L,Missense_F619L exm1426583 19 10782188 [A/G] NM_153464,NM_017620,NM_004516,NM_012218,NM_001137673 ILF3,ILF3,ILF3,ILF3,ILF3 EXON Missense_D130N,Missense_D130N,Missense_D130N,Missense_D130N,Missense_D130N exm1426606 19 10791945 [A/G] NM_153464,NM_017620,NM_004516,NM_012218,NM_001137673 ILF3,ILF3,ILF3,ILF3,ILF3 EXON Missense_M374V,Missense_M374V,Missense_M374V,Missense_M374V,Missense_M374V exm1426620 19 10793294 [A/G] NM_153464,NM_017620,NM_004516,NM_012218,NM_001137673 ILF3,ILF3,ILF3,ILF3,ILF3 EXON Missense_A488T,Missense_A488T,Missense_A488T,Missense_A488T,Missense_A488T exm1426621 19 10793295 [T/C] NM_153464,NM_017620,NM_004516,NM_012218,NM_001137673 ILF3,ILF3,ILF3,ILF3,ILF3 EXON Missense_A488V,Missense_A488V,Missense_A488V,Missense_A488V,Missense_A488V exm1426623 19 10793333 [T/G] NM_153464,NM_017620,NM_004516,NM_012218,NM_001137673 ILF3,ILF3,ILF3,ILF3,ILF3 EXON Missense_A501S,Missense_A501S,Missense_A501S,Missense_A501S,Missense_A501S exm1426659 19 10794626 [A/G] NM_153464,NM_017620,NM_004516,NM_012218,NM_001137673 ILF3,ILF3,ILF3,ILF3,ILF3 EXON Missense_N680S,Missense_N684S,Missense_N680S,Missense_N680S,Missense_N684S exm1426665 19 10795548 [T/A] NM_153464,NM_017620,NM_004516,NM_012218,NM_001137673 ILF3,ILF3,ILF3,ILF3,ILF3 EXON Missense_X691C,Silent,Silent,Silent,Silent exm1426669 19 10798066 [A/G] NM_017620,NM_012218 ILF3,ILF3 EXON Missense_G706S,Missense_G702S exm2228215 19 10799893 [A/G] NM_017620,NM_012218 ILF3,ILF3 EXON Missense_G868S,Missense_G864S exm-rs8102380 19 10801185 [A/G] NM_017620,NM_012218 ILF3,ILF3 EXON Silent,Silent exm1426720 19 10812828 [A/C] NM_031209 QTRT1 EXON Missense_L117M exm2228216 19 10812865 [T/C] NM_031209 QTRT1 EXON Missense_S129F exm1920462 19 10818225 [A/G] NM_031209 QTRT1 EXON Missense_K194E exm1426748 19 10823254 [A/G] NM_031209 QTRT1 EXON Missense_V271M exm-rs11671653 19 10838486 [A/G] NM_001005361,NM_001005360,NM_001005362,NM_001190716,NM_004945 DNM2,DNM2,DNM2,DNM2,DNM2 Silent,Silent,Silent,Silent,Silent exm1426777 19 10870442 [A/G] NM_001005361,NM_001005360,NM_001005362,NM_001190716,NM_004945 DNM2,DNM2,DNM2,DNM2,DNM2 EXON Missense_V64I,Missense_V64I,Missense_V64I,Missense_V64I,Missense_V64I exm1426782 19 10883157 [T/C] NM_001005361,NM_001005360,NM_001005362,NM_001190716,NM_004945 DNM2,DNM2,DNM2,DNM2,DNM2 EXON Missense_H80Y,Missense_H80Y,Missense_H80Y,Missense_H80Y,Missense_H80Y exm2275307 19 10883303 [T/C] NM_001005361,NM_001005360,NM_001005362,NM_001190716,NM_004945 DNM2,DNM2,DNM2,DNM2,DNM2 EXON Synonymous_H128H,Synonymous_H128H,Synonymous_H128H,Synonymous_H128H,Synonymous_H128H exm1426798 19 10887847 [A/G] NM_001005361,NM_001005360,NM_001005362,NM_001190716,NM_004945 DNM2,DNM2,DNM2,DNM2,DNM2 EXON Missense_D215N,Missense_D215N,Missense_D215N,Missense_D215N,Missense_D215N exm1426805 19 10893735 [T/C] NM_001005361,NM_001005360,NM_001005362,NM_001190716,NM_004945 DNM2,DNM2,DNM2,DNM2,DNM2 EXON Missense_P263L,Missense_P263L,Missense_P263L,Missense_P263L,Missense_P263L exm1426807 19 10893786 [T/C] NM_001005361,NM_001005360,NM_001005362,NM_001190716,NM_004945 DNM2,DNM2,DNM2,DNM2,DNM2 EXON Missense_T280M,Missense_T280M,Missense_T280M,Missense_T280M,Missense_T280M exm1426830 19 10908100 [A/G] NM_001005361,NM_001005360,NM_001005362,NM_001190716,NM_004945 DNM2,DNM2,DNM2,DNM2,DNM2 EXON Missense_K414R,Silent,Missense_K414R,Silent,Silent exm1426836 19 10909184 [A/G] NM_001005361,NM_001005360,NM_001005362,NM_001190716,NM_004945 DNM2,DNM2,DNM2,DNM2,DNM2 EXON Missense_R453Q,Missense_R453Q,Missense_R453Q,Missense_R453Q,Missense_R453Q exm1426840 19 10909210 [A/G] NM_001005361,NM_001005360,NM_001005362,NM_001190716,NM_004945 DNM2,DNM2,DNM2,DNM2,DNM2 EXON Missense_T462A,Missense_T462A,Missense_T462A,Missense_T462A,Missense_T462A exm1426871 19 10935797 [T/G] NM_001005361,NM_001005360,NM_001005362,NM_001190716,NM_004945 DNM2,DNM2,DNM2,DNM2,DNM2 EXON Missense_V653G,Missense_V653G,Missense_V649G,Missense_V653G,Missense_V649G exm1426887 19 10939832 [T/C] NM_001005361,NM_001005360,NM_001005362,NM_001190716,NM_004945 DNM2,DNM2,DNM2,DNM2,DNM2 EXON Missense_H727Y,Missense_H727Y,Missense_H723Y,Missense_H727Y,Missense_H723Y exm1426904 19 10941677 [A/G] NM_001005361,NM_001005360,NM_001005362,NM_001190716,NM_004945 DNM2,DNM2,DNM2,DNM2,DNM2 EXON Missense_S856N,Missense_S856N,Missense_S852N,Missense_S855N,Missense_S852N exm1426911 19 10943688 [A/G] NM_006858 TMED1 EXON Missense_R223C exm1426913 19 10943750 [A/G] NM_006858 TMED1 EXON Missense_A202V exm1920601 19 10943762 [A/G] NM_006858 TMED1 EXON Missense_A198V exm1426918 19 10943855 [T/C] NM_006858 TMED1 EXON Missense_R167H exm1426941 19 10946843 [T/C] NM_006858 TMED1 EXON Missense_A9T exm1426953 19 10961132 [A/G] NM_001136482 C19orf38 EXON Missense_G77S exm1426955 19 10961219 [G/C] NM_001136482 C19orf38 EXON Missense_E106Q exm1426991 19 11019790 [A/C] NM_199141 CARM1 EXON Nonsense_Y155X exm1427044 19 11032327 [T/C] NM_199141 CARM1 EXON Missense_T574M exm1427056 19 11034008 [T/C] NM_024029 YIPF2 EXON Missense_A304T exm1427062 19 11034067 [A/G] NM_024029 YIPF2 EXON Missense_S284L exm1427063 19 11034184 [A/G] NM_024029 YIPF2 EXON Missense_A274V exm1427064 19 11034206 [C/G] NM_024029 YIPF2 EXON Missense_V267L exm1427076 19 11034514 [T/C] NM_024029 YIPF2 EXON Missense_M216V exm1427080 19 11034582 [T/C] NM_024029 YIPF2 EXON Missense_R193H exm2253620 19 11034641 [T/C] NM_024029 YIPF2 EXON Synonymous_A173A exm1427086 19 11034663 [C/G] NM_024029 YIPF2 EXON Missense_G166A exm1427101 19 11036395 [A/G] NM_024029 YIPF2 EXON Missense_R112W exm1427105 19 11036419 [A/G] NM_024029 YIPF2 EXON Missense_P104S exm1427106 19 11036440 [A/G] NM_024029 YIPF2 EXON Missense_R97W exm1427117 19 11039506 [T/C] NM_138358 C19orf52 EXON Missense_A3V exm1427124 19 11040005 [T/C] NM_138358 C19orf52 EXON Missense_P137L exm1427130 19 11040127 [T/C] NM_138358 C19orf52 EXON Missense_W178R exm1427139 19 11040256 [A/G] NM_138358 C19orf52 EXON Missense_V221M exm1920702 19 11040263 [T/C] NM_138358 C19orf52 EXON Missense_T223I exm1427140 19 11040268 [A/G] NM_138358 C19orf52 EXON Missense_D225N exm-rs11669133 19 11092139 [A/G] NM_001128844,NM_003072,NM_001128849 SMARCA4,SMARCA4,SMARCA4 Silent,Silent,Silent exm1427161 19 11096912 [C/G] NM_001128844,NM_003072,NM_001128849,NM_001128847,NM_001128848,NM_001128846,NM_001128845 SMARCA4,SMARCA4,SMARCA4,SMARCA4,SMARCA4,SMARCA4,SMARCA4 EXON Missense_P135A,Missense_P135A,Missense_P135A,Missense_P135A,Missense_P135A,Missense_P135A,Missense_P135A exm1427165 19 11096951 [A/G] NM_001128844,NM_003072,NM_001128849,NM_001128847,NM_001128848,NM_001128846,NM_001128845 SMARCA4,SMARCA4,SMARCA4,SMARCA4,SMARCA4,SMARCA4,SMARCA4 EXON Missense_G148R,Missense_G148R,Missense_G148R,Missense_G148R,Missense_G148R,Missense_G148R,Missense_G148R exm1427168 19 11097098 [T/C] NM_001128844,NM_003072,NM_001128849,NM_001128847,NM_001128848,NM_001128846,NM_001128845 SMARCA4,SMARCA4,SMARCA4,SMARCA4,SMARCA4,SMARCA4,SMARCA4 EXON Missense_P197S,Missense_P197S,Missense_P197S,Missense_P197S,Missense_P197S,Missense_P197S,Missense_P197S exm1427194 19 11098558 [A/G] NM_001128844,NM_003072,NM_001128849,NM_001128847,NM_001128848,NM_001128846,NM_001128845 SMARCA4,SMARCA4,SMARCA4,SMARCA4,SMARCA4,SMARCA4,SMARCA4 EXON Missense_R359Q,Missense_R359Q,Missense_R359Q,Missense_R359Q,Missense_R359Q,Missense_R359Q,Missense_R359Q exm1427316 19 11144134 [T/C] NM_001128844,NM_003072,NM_001128849,NM_001128847,NM_001128848,NM_001128846,NM_001128845 SMARCA4,SMARCA4,SMARCA4,SMARCA4,SMARCA4,SMARCA4,SMARCA4 EXON Missense_S1239P,Missense_S1239P,Missense_S1239P,Missense_S1239P,Missense_S1239P,Missense_S1239P,Missense_S1239P exm-rs1122608 19 11163601 [T/G] NM_001128844,NM_003072,NM_001128849,NM_001128847,NM_001128848,NM_001128846,NM_001128845 SMARCA4,SMARCA4,SMARCA4,SMARCA4,SMARCA4,SMARCA4,SMARCA4 Silent,Silent,Silent,Silent,Silent,Silent,Silent exm-rs11668477 19 11195030 [A/G] exm-rs6511720 19 11202306 [T/G] NM_001195799,NM_001195798,NM_001195802,NM_001195800,NM_001195803,NM_000527 LDLR,LDLR,LDLR,LDLR,LDLR,LDLR Silent,Silent,Silent,Silent,Silent,Silent exm2263569 19 11210912 [T/C] NM_001195799,NM_001195798,NM_001195802,NM_001195800,NM_001195803,NM_000527 LDLR,LDLR,LDLR,LDLR,LDLR,LDLR EXON Synonymous_C27C,Synonymous_C27C,Synonymous_C27C,Synonymous_C27C,Synonymous_C27C,Synonymous_C27C exm2228236 19 11210913 [A/G] NM_001195799,NM_001195798,NM_001195802,NM_001195800,NM_001195803,NM_000527 LDLR,LDLR,LDLR,LDLR,LDLR,LDLR EXON Missense_E28K,Missense_E28K,Missense_E28K,Missense_E28K,Missense_E28K,Missense_E28K exm2263570 19 11210921 [T/C] NM_001195799,NM_001195798,NM_001195802,NM_001195800,NM_001195803,NM_000527 LDLR,LDLR,LDLR,LDLR,LDLR,LDLR EXON Synonymous_N30N,Synonymous_N30N,Synonymous_N30N,Synonymous_N30N,Synonymous_N30N,Synonymous_N30N exm2263571 19 11213450 [A/G] NM_001195799,NM_001195798,NM_001195802,NM_001195800,NM_001195803,NM_000527 LDLR,LDLR,LDLR,LDLR,LDLR,LDLR EXON Silent,Missense_E101K,Silent,Missense_E101K,Missense_E101K,Missense_E101K exm1427403 19 11213462 [T/C] NM_001195799,NM_001195798,NM_001195802,NM_001195800,NM_001195803,NM_000527 LDLR,LDLR,LDLR,LDLR,LDLR,LDLR EXON Silent,Missense_P105S,Silent,Synonymous_L105L,Missense_P105S,Missense_P105S exm2263572 19 11215907 [T/C] NM_001195799,NM_001195798,NM_001195802,NM_001195800,NM_001195803,NM_000527 LDLR,LDLR,LDLR,LDLR,LDLR,LDLR EXON Missense_C68R,Missense_C109R,Silent,Silent,Silent,Missense_C109R exm1427407 19 11215926 [A/G] NM_001195799,NM_001195798,NM_001195802,NM_001195800,NM_001195803,NM_000527 LDLR,LDLR,LDLR,LDLR,LDLR,LDLR EXON Missense_R74H,Missense_R115H,Silent,Silent,Silent,Missense_R115H exm1920908 19 11216011 [A/C] NM_001195799,NM_001195798,NM_001195802,NM_001195800,NM_001195803,NM_000527 LDLR,LDLR,LDLR,LDLR,LDLR,LDLR EXON Nonsense_C102X,Nonsense_C143X,Silent,Silent,Silent,Nonsense_C143X exm1427412 19 11216084 [A/G] NM_001195799,NM_001195798,NM_001195802,NM_001195800,NM_001195803,NM_000527 LDLR,LDLR,LDLR,LDLR,LDLR,LDLR EXON Missense_D127N,Missense_D168N,Missense_D47N,Silent,Silent,Missense_D168N exm1427419 19 11216238 [A/G] NM_001195799,NM_001195798,NM_001195802,NM_001195800,NM_001195803,NM_000527 LDLR,LDLR,LDLR,LDLR,LDLR,LDLR EXON Missense_G178D,Missense_G219D,Missense_G98D,Silent,Silent,Missense_G219D exm2263573 19 11216275 [A/C] NM_001195799,NM_001195798,NM_001195802,NM_001195800,NM_001195803,NM_000527 LDLR,LDLR,LDLR,LDLR,LDLR,LDLR EXON Nonsense_C190X,Nonsense_C231X,Nonsense_C110X,Silent,Silent,Nonsense_C231X exm1427424 19 11217256 [A/G] NM_001195799,NM_001195798,NM_001195802,NM_001195800,NM_001195803,NM_000527 LDLR,LDLR,LDLR,LDLR,LDLR,LDLR EXON Missense_R196H,Missense_R237H,Missense_R116H,Silent,Missense_R110H,Missense_R237H exm1427428 19 11217303 [T/C] NM_001195799,NM_001195798,NM_001195802,NM_001195800,NM_001195803,NM_000527 LDLR,LDLR,LDLR,LDLR,LDLR,LDLR EXON Missense_R212W,Missense_R253W,Missense_R132W,Silent,Missense_R126W,Missense_R253W exm1427430 19 11217315 [T/C] NM_001195799,NM_001195798,NM_001195802,NM_001195800,NM_001195803,NM_000527 LDLR,LDLR,LDLR,LDLR,LDLR,LDLR EXON Missense_R216W,Missense_R257W,Missense_R136W,Silent,Missense_R130W,Missense_R257W exm2263575 19 11217334 [A/G] NM_001195799,NM_001195798,NM_001195802,NM_001195800,NM_001195803,NM_000527 LDLR,LDLR,LDLR,LDLR,LDLR,LDLR EXON Missense_D222G,Missense_D263G,Missense_D142G,Silent,Missense_D136G,Missense_D263G exm2263576 19 11217344 [A/T] NM_001195799,NM_001195798,NM_001195802,NM_001195800,NM_001195803,NM_000527 LDLR,LDLR,LDLR,LDLR,LDLR,LDLR EXON Missense_D225E,Missense_D266E,Missense_D145E,Silent,Missense_D139E,Missense_D266E exm1920917 19 11218079 [A/G] NM_001195799,NM_001195798,NM_001195802,NM_001195800,NM_001195803,NM_000527 LDLR,LDLR,LDLR,LDLR,LDLR,LDLR EXON Missense_E236K,Missense_E277K,Missense_E156K,Missense_E109K,Missense_E150K,Missense_E277K exm2263578 19 11218160 [A/G] NM_001195799,NM_001195798,NM_001195802,NM_001195800,NM_001195803,NM_000527 LDLR,LDLR,LDLR,LDLR,LDLR,LDLR EXON Missense_D263N,Missense_D304N,Missense_D183N,Missense_D136N,Missense_D177N,Missense_D304N exm1427443 19 11221357 [A/G] NM_001195799,NM_001195798,NM_001195802,NM_001195800,NM_001195803,NM_000527 LDLR,LDLR,LDLR,LDLR,LDLR,LDLR EXON Missense_G283S,Missense_G324S,Missense_G203S,Missense_G156S,Missense_G197S,Missense_G324S exm1427446 19 11221411 [A/G] NM_001195799,NM_001195798,NM_001195802,NM_001195800,NM_001195803,NM_000527 LDLR,LDLR,LDLR,LDLR,LDLR,LDLR EXON Missense_D301N,Missense_D342N,Missense_D221N,Missense_D174N,Missense_D215N,Missense_D342N exm1427456 19 11222300 [A/G] NM_001195799,NM_001195798,NM_001195802,NM_001195800,NM_001195803,NM_000527 LDLR,LDLR,LDLR,LDLR,LDLR,LDLR EXON Missense_A350T,Missense_A391T,Missense_A270T,Missense_A223T,Missense_A264T,Missense_A391T exm2263582 19 11223968 [G/C] NM_001195799,NM_001195798,NM_001195802,NM_001195800,NM_001195803,NM_000527 LDLR,LDLR,LDLR,LDLR,LDLR,LDLR EXON Missense_L360V,Missense_L401V,Missense_L280V,Missense_L233V,Missense_L274V,Missense_L401V exm2263583 19 11223991 [C/G] NM_001195799,NM_001195798,NM_001195802,NM_001195800,NM_001195803,NM_000527 LDLR,LDLR,LDLR,LDLR,LDLR,LDLR EXON Missense_E367D,Missense_E408D,Missense_E287D,Missense_E240D,Missense_E281D,Missense_E408D exm2263584 19 11224210 [A/G] NM_001195799,NM_001195798,NM_001195802,NM_001195800,NM_001195803,NM_000527 LDLR,LDLR,LDLR,LDLR,LDLR,LDLR Silent,Silent,Silent,Silent,Silent,Silent exm2263585 19 11224296 [A/G] NM_001195799,NM_001195798,NM_001195802,NM_001195800,NM_001195803,NM_000527 LDLR,LDLR,LDLR,LDLR,LDLR,LDLR EXON Missense_D441N,Missense_D482N,Missense_D361N,Missense_D314N,Missense_D355N,Missense_D482N exm1427477 19 11224398 [A/G] NM_001195799,NM_001195798,NM_001195802,NM_001195800,NM_001195803,NM_000527 LDLR,LDLR,LDLR,LDLR,LDLR,LDLR EXON Missense_G475S,Missense_G516S,Missense_G395S,Missense_G348S,Missense_G389S,Missense_G516S exm2263586 19 11227559 [A/G] NM_001195799,NM_001195798,NM_001195802,NM_001195800,NM_001195803,NM_000527 LDLR,LDLR,LDLR,LDLR,LDLR,LDLR EXON Nonsense_W536X,Nonsense_W577X,Nonsense_W456X,Nonsense_W409X,Nonsense_W450X,Nonsense_W577X exm2263587 19 11227604 [A/G] NM_001195799,NM_001195798,NM_001195802,NM_001195800,NM_001195803,NM_000527 LDLR,LDLR,LDLR,LDLR,LDLR,LDLR EXON Missense_G551E,Missense_G592E,Missense_G471E,Missense_G424E,Missense_G465E,Missense_G592E exm1427501 19 11230798 [A/G] NM_001195799,NM_001195798,NM_001195802,NM_001195800,NM_001195803,NM_000527 LDLR,LDLR,LDLR,LDLR,LDLR,LDLR EXON Missense_E585K,Missense_E626K,Missense_E505K,Missense_E458K,Missense_E499K,Missense_E626K exm2263588 19 11231112 [T/C] NM_001195799,NM_001195798,NM_001195802,NM_001195800,NM_001195803,NM_000527 LDLR,LDLR,LDLR,LDLR,LDLR,LDLR EXON Missense_P644L,Missense_P685L,Missense_P564L,Missense_P517L,Silent,Missense_P685L exm2263589 19 11231154 [T/C] NM_001195799,NM_001195798,NM_001195802,NM_001195800,NM_001195803,NM_000527 LDLR,LDLR,LDLR,LDLR,LDLR,LDLR EXON Missense_P658L,Missense_P699L,Missense_P578L,Missense_P531L,Silent,Missense_P699L exm1427518 19 11231199 [A/G] NM_001195799,NM_001195798,NM_001195802,NM_001195800,NM_001195803,NM_000527 LDLR,LDLR,LDLR,LDLR,LDLR,LDLR Silent,Silent,Silent,Silent,Silent,Silent exm2263591 19 11233909 [A/C] NM_001195799,NM_001195798,NM_001195802,NM_001195800,NM_001195803,NM_000527 LDLR,LDLR,LDLR,LDLR,LDLR,LDLR EXON Missense_T693P,Missense_T734P,Missense_T613P,Missense_T566P,Missense_T556P,Missense_T734P exm1427522 19 11233940 [A/G] NM_001195799,NM_001195798,NM_001195802,NM_001195800,NM_001195803,NM_000527 LDLR,LDLR,LDLR,LDLR,LDLR,LDLR EXON Missense_R703Q,Missense_R744Q,Missense_R623Q,Missense_R576Q,Missense_R566Q,Missense_R744Q exm-rs2738459 19 11238473 [A/C] NM_001195799,NM_001195798,NM_001195802,NM_001195800,NM_001195803,NM_000527 LDLR,LDLR,LDLR,LDLR,LDLR,LDLR Silent,Silent,Silent,Silent,Silent,Silent exm1427534 19 11238731 [A/G] NM_001195799,NM_001195798,NM_001195802,NM_001195800,NM_001195803,NM_000527 LDLR,LDLR,LDLR,LDLR,LDLR,LDLR EXON Missense_V746M,Missense_V787M,Missense_V666M,Missense_V619M,Missense_V609M,Missense_V787M exm1427544 19 11240240 [A/G] NM_001195799,NM_001195798,NM_001195802,NM_001195800,NM_001195803,NM_000527 LDLR,LDLR,LDLR,LDLR,LDLR,LDLR EXON Missense_R773Q,Missense_R814Q,Missense_R693Q,Missense_R646Q,Missense_R636Q,Missense_R814Q exm2263593 19 11241983 [T/C] NM_001195799,NM_001195798,NM_001195802,NM_001195800,NM_001195803,NM_000527 LDLR,LDLR,LDLR,LDLR,LDLR,LDLR EXON Synonymous_D817D,Synonymous_D856D,Synonymous_D737D,Synonymous_D690D,Synonymous_D680D,Synonymous_D858D exm2228240 19 11241988 [T/C] NM_001195799,NM_001195798,NM_001195802,NM_001195800,NM_001195803,NM_000527 LDLR,LDLR,LDLR,LDLR,LDLR,LDLR EXON Missense_A819V,Missense_A858V,Missense_A739V,Missense_A692V,Missense_A682V,Missense_A860V exm2272816 19 11257018 [T/C] exm1427567 19 11258570 [T/C] NM_182513 SPC24 EXON Synonymous_V137V exm1427571 19 11258720 [T/C] NM_182513 SPC24 EXON Missense_E127K exm-rs7188 19 11275139 [A/C] NM_001136191,NM_015493 KANK2,KANK2 EXON Silent,Silent exm1427586 19 11277247 [A/G] NM_001136191,NM_015493 KANK2,KANK2 EXON Missense_S848L,Missense_S856L exm1427587 19 11277278 [T/C] NM_001136191,NM_015493 KANK2,KANK2 EXON Missense_M838V,Missense_M846V exm1427600 19 11283688 [T/C] NM_001136191,NM_015493 KANK2,KANK2 EXON Missense_R727Q,Missense_R735Q exm1427610 19 11283798 [A/G] NM_001136191,NM_015493 KANK2,KANK2 EXON Synonymous_G690G,Synonymous_G698G exm1427611 19 11285149 [T/C] NM_001136191,NM_015493 KANK2,KANK2 EXON Missense_G690S,Missense_G698S exm1427612 19 11285150 [A/G] NM_001136191,NM_015493 KANK2,KANK2 EXON Synonymous_S689S,Synonymous_S697S exm1427619 19 11285230 [T/C] NM_001136191,NM_015493 KANK2,KANK2 EXON Missense_A663T,Missense_A671T exm1427621 19 11285256 [T/C] NM_001136191,NM_015493 KANK2,KANK2 EXON Missense_R654Q,Missense_R662Q exm1427622 19 11285259 [A/G] NM_001136191,NM_015493 KANK2,KANK2 EXON Missense_A653V,Missense_A661V exm1427629 19 11285319 [T/C] NM_001136191,NM_015493 KANK2,KANK2 EXON Missense_R633H,Missense_R641H exm2253623 19 11285390 [A/G] NM_001136191,NM_015493 KANK2,KANK2 Silent,Silent exm1427632 19 11286599 [T/G] NM_001136191,NM_015493 KANK2,KANK2 EXON Missense_N609K,Missense_N617K exm1427641 19 11287326 [T/C] NM_001136191,NM_015493 KANK2,KANK2 EXON Missense_Q563R,Missense_Q571R exm1427642 19 11287338 [A/C] NM_001136191,NM_015493 KANK2,KANK2 EXON Missense_R559L,Missense_R567L exm1427646 19 11287353 [A/G] NM_001136191,NM_015493 KANK2,KANK2 EXON Missense_A554V,Missense_A562V exm1427656 19 11289037 [T/C] NM_001136191,NM_015493 KANK2,KANK2 EXON Missense_V502M,Missense_V510M exm1427659 19 11289073 [T/C] NM_001136191,NM_015493 KANK2,KANK2 EXON Missense_A490T,Missense_A498T exm1427665 19 11289129 [A/G] NM_001136191,NM_015493 KANK2,KANK2 EXON Silent,Missense_P479L exm1427670 19 11289309 [T/C] NM_001136191,NM_015493 KANK2,KANK2 EXON Missense_R446Q,Missense_R446Q exm1427674 19 11289372 [A/G] NM_001136191,NM_015493 KANK2,KANK2 EXON Missense_S425L,Missense_S425L exm1427684 19 11303554 [A/G] NM_001136191,NM_015493 KANK2,KANK2 EXON Missense_M401T,Missense_M401T exm1427685 19 11303578 [C/G] NM_001136191,NM_015493 KANK2,KANK2 EXON Missense_A393G,Missense_A393G exm1427688 19 11303618 [A/G] NM_001136191,NM_015493 KANK2,KANK2 EXON Missense_R380C,Missense_R380C exm1427706 19 11303830 [T/C] NM_001136191,NM_015493 KANK2,KANK2 EXON Missense_R309Q,Missense_R309Q exm1427708 19 11303833 [A/G] NM_001136191,NM_015493 KANK2,KANK2 EXON Missense_A308V,Missense_A308V exm1427727 19 11304155 [T/G] NM_001136191,NM_015493 KANK2,KANK2 EXON Missense_Q201K,Missense_Q201K exm1427731 19 11304167 [A/G] NM_001136191,NM_015493 KANK2,KANK2 EXON Missense_R197W,Missense_R197W exm1921085 19 11304224 [T/C] NM_001136191,NM_015493 KANK2,KANK2 EXON Missense_V178M,Missense_V178M exm1427741 19 11304404 [T/C] NM_001136191,NM_015493 KANK2,KANK2 EXON Missense_G118S,Missense_G118S exm1427742 19 11304424 [T/C] NM_001136191,NM_015493 KANK2,KANK2 EXON Missense_Y111C,Missense_Y111C exm1427754 19 11304559 [T/C] NM_001136191,NM_015493 KANK2,KANK2 EXON Missense_R66H,Missense_R66H exm1427766 19 11305178 [T/C] NM_001136191,NM_015493 KANK2,KANK2 EXON Missense_V4I,Missense_V4I exm2228244 19 11311464 [T/G] NM_020812 DOCK6 EXON Missense_E1956A exm1427801 19 11312671 [T/C] NM_020812 DOCK6 EXON Missense_R1861H exm1427802 19 11312678 [T/C] NM_020812 DOCK6 EXON Missense_D1859N exm1427808 19 11312710 [T/C] NM_020812 DOCK6 EXON Missense_R1848H exm1427820 19 11313346 [T/C] NM_020812 DOCK6 EXON Missense_A1759T exm1427825 19 11314880 [T/A] NM_020812 DOCK6 EXON Missense_H1739L exm2228246 19 11314922 [A/G] NM_020812 DOCK6 EXON Missense_A1725V exm1427840 19 11319491 [A/G] NM_020812 DOCK6 EXON Synonymous_N1653N exm2253624 19 11319491 [A/G] NM_020812 DOCK6 EXON Synonymous_N1653N exm1427842 19 11319598 [T/C] NM_020812 DOCK6 EXON Missense_V1645I exm1427860 19 11322515 [A/G] NM_020812 DOCK6 EXON Missense_T1563M exm2228249 19 11322525 [T/C] NM_020812 DOCK6 EXON Missense_M1560V exm1921131 19 11322772 [A/G] NM_020812 DOCK6 EXON Missense_T1516M exm1427873 19 11323874 [T/C] NM_020812 DOCK6 EXON Missense_R1490Q exm1427889 19 11325073 [A/C] NM_020812 DOCK6 EXON Missense_S1406A exm1427891 19 11325084 [A/G] NM_020812 DOCK6 EXON Missense_T1402M exm1427893 19 11325229 [T/C] NM_020812 DOCK6 EXON Synonymous_Q1401Q exm1427894 19 11325234 [T/C] NM_020812 DOCK6 EXON Missense_V1400M exm1427898 19 11326072 [T/C] NM_020812 DOCK6 EXON Missense_R1366H exm1427899 19 11326073 [A/G] NM_020812 DOCK6 EXON Missense_R1366C exm1427912 19 11326542 [A/G] NM_020812 DOCK6 EXON Missense_A1319V exm1427914 19 11326585 [A/G] NM_020812 DOCK6 EXON Missense_R1305C exm1427925 19 11327720 [A/G] NM_020812 DOCK6 EXON Missense_A1255V exm1427928 19 11327760 [T/C] NM_020812 DOCK6 EXON Missense_G1242S exm1427934 19 11327908 [A/G] NM_020812 DOCK6 EXON Missense_T1237M exm1427940 19 11328001 [A/G] NM_020812 DOCK6 EXON Missense_I1206T exm1427947 19 11332560 [A/G] NM_020812 DOCK6 EXON Missense_R1173W exm1427957 19 11332822 [T/C] NM_020812 DOCK6 EXON Missense_T1115A exm1427964 19 11333488 [T/C] NM_020812 DOCK6 EXON Missense_V1055M exm2228250 19 11339635 [G/C] NM_020812 DOCK6 EXON Missense_W932S exm1427986 19 11339660 [A/G] NM_020812 DOCK6 EXON Missense_R924C exm1427987 19 11339663 [T/C] NM_020812 DOCK6 EXON Missense_V923I exm1427996 19 11343968 [A/G] NM_020812 DOCK6 EXON Missense_R877C exm1428005 19 11346352 [A/G] NM_020812 DOCK6 EXON Missense_R826C exm1428012 19 11347061 [A/G] NM_020812 DOCK6 EXON Missense_R785C exm1428019 19 11347166 [T/C] NM_020812 DOCK6 EXON Missense_E750K exm-rs737337 19 11347493 [T/C] NM_020812 DOCK6 EXON Synonymous_T712T exm1428025 19 11347525 [T/C] NM_020812 DOCK6 EXON Missense_G702S exm1428042 19 11348351 [A/G] NM_020812 DOCK6 EXON Missense_P646L exm1428054 19 11348755 [A/G] NM_020812 DOCK6 EXON Missense_R600C exm1428062 19 11348960 [A/G] NM_020812 DOCK6 EXON Missense_P555L exm1428063 19 11348967 [T/C] NM_020812 DOCK6 EXON Missense_V553M exm1428065 19 11350326 [A/G] NM_020812,NM_018687 DOCK6,C19orf80 EXON Silent,Missense_A5T exm1428070 19 11350389 [A/G] NM_020812,NM_018687 DOCK6,C19orf80 EXON Silent,Missense_G26S exm1428072 19 11350464 [A/G] NM_020812,NM_018687 DOCK6,C19orf80 EXON Silent,Missense_G51S exm1428076 19 11350534 [T/C] NM_020812,NM_018687 DOCK6,C19orf80 EXON Silent,Missense_I74T exm1428077 19 11350560 [T/C] NM_020812,NM_018687 DOCK6,C19orf80 EXON Silent,Missense_R83W exm1428084 19 11350874 [T/C] NM_020812,NM_018687 DOCK6,C19orf80 EXON Silent,Nonsense_Q121X exm1428093 19 11350953 [A/G] NM_020812,NM_018687 DOCK6,C19orf80 EXON Silent,Missense_R147Q exm1428112 19 11353812 [G/C] NM_020812 DOCK6 EXON Missense_S468T exm1428117 19 11354031 [T/C] NM_020812 DOCK6 EXON Missense_R430H exm1428123 19 11354514 [G/C] NM_020812 DOCK6 EXON Missense_E356D exm1428133 19 11356384 [A/G] NM_020812 DOCK6 EXON Missense_S293L exm1428141 19 11358799 [A/G] NM_020812 DOCK6 EXON Missense_P250L exm1428156 19 11361620 [T/C] NM_020812 DOCK6 EXON Missense_R217Q exm1428164 19 11361753 [A/G] NM_020812 DOCK6 EXON Missense_R173W exm1921215 19 11363218 [A/T] NM_020812 DOCK6 EXON Missense_D106V exm2228253 19 11406993 [T/C] NM_012466 TSPAN16 EXON Missense_P7L exm1921228 19 11407018 [A/C] NM_012466 TSPAN16 EXON Missense_L15F exm1428206 19 11408870 [A/C] NM_012466 TSPAN16 EXON Missense_A41D exm1428209 19 11408890 [A/G] NM_012466 TSPAN16 EXON Missense_G48R exm1428210 19 11408905 [T/G] NM_012466 TSPAN16 EXON Missense_Y53D exm1428212 19 11408912 [T/C] NM_012466 TSPAN16 EXON Missense_L55P exm1428219 19 11408951 [T/C] NM_012466 TSPAN16 EXON Missense_T68M exm1428220 19 11408971 [A/G] NM_012466 TSPAN16 EXON Missense_G75R exm1428223 19 11409560 [A/G] NM_012466 TSPAN16 EXON Missense_M94V exm1428227 19 11411910 [A/G] NM_012466 TSPAN16 EXON Missense_T126A exm1428238 19 11417401 [A/G] NM_012466 TSPAN16 EXON Missense_R191H exm1428255 19 11436222 [T/C] NM_012466,NM_004283 TSPAN16,RAB3D EXON Silent,Missense_N171S exm1428261 19 11446143 [T/C] NM_004283 RAB3D EXON Missense_R151Q exm1428262 19 11446144 [A/G] NM_004283 RAB3D EXON Missense_R151W exm1428266 19 11446171 [T/C] NM_004283 RAB3D EXON Missense_E142K exm2253625 19 11446172 [A/G] NM_004283 RAB3D EXON Synonymous_D141D exm1428267 19 11446172 [A/G] NM_004283 RAB3D EXON Synonymous_D141D exm1428280 19 11446411 [A/G] NM_004283 RAB3D EXON Missense_R93W exm1428299 19 11448042 [A/G] NM_004283 RAB3D EXON Missense_R12W exm1428302 19 11453547 [T/C] NM_033408,NM_198536,NM_001145416 TMEM205,TMEM205,TMEM205 EXON Missense_V172I,Missense_V172I,Missense_V172I exm1428307 19 11453735 [T/C] NM_033408,NM_198536,NM_001145416 TMEM205,TMEM205,TMEM205 EXON Missense_R109H,Missense_R109H,Missense_R109H exm1921266 19 11456004 [A/C] NM_033408,NM_198536,NM_001145416 TMEM205,TMEM205,TMEM205 EXON Missense_G63V,Missense_G63V,Missense_G63V exm1428317 19 11456271 [T/C] NM_033408,NM_198536,NM_001145416 TMEM205,TMEM205,TMEM205 EXON Missense_G9S,Missense_G9S,Missense_G9S exm1428335 19 11460637 [A/G] NM_001080503 CCDC159 EXON Missense_D27N exm1428337 19 11460656 [A/G] NM_001080503 CCDC159 EXON Missense_R33Q exm1428346 19 11461601 [T/C] NM_001080503 CCDC159 EXON Missense_T115I exm1428354 19 11462808 [A/G] NM_001080503 CCDC159 EXON Missense_K189R exm1921294 19 11470367 [A/G] NM_022737,NM_001170635 LPPR2,LPPR2 EXON Missense_A76T,Missense_A51T exm1428389 19 11470370 [G/C] NM_022737,NM_001170635 LPPR2,LPPR2 EXON Missense_L77V,Missense_L52V exm1428406 19 11472028 [T/C] NM_022737,NM_001170635 LPPR2,LPPR2 EXON Missense_P176L,Missense_P151L exm1428411 19 11472138 [A/T] NM_022737,NM_001170635 LPPR2,LPPR2 EXON Missense_C213S,Missense_C188S exm1428416 19 11473271 [T/C] NM_022737,NM_001170635 LPPR2,LPPR2 EXON Missense_F249S,Missense_F224S exm1921310 19 11473351 [A/G] NM_022737,NM_001170635 LPPR2,LPPR2 EXON Missense_I276V,Missense_I251V exm1428421 19 11474398 [A/G] NM_022737,NM_001170635 LPPR2,LPPR2 EXON Missense_V284I,Missense_V259I exm1428422 19 11474420 [A/G] NM_022737,NM_001170635 LPPR2,LPPR2 EXON Missense_R291Q,Missense_R266Q exm1428431 19 11475027 [A/G] NM_022737,NM_001170635 LPPR2,LPPR2 EXON Missense_R335H,Synonymous_S315S exm1428441 19 11485438 [T/C] NM_175871 SWSAP1 EXON Missense_P7S exm1428447 19 11485552 [T/C] NM_175871 SWSAP1 EXON Missense_L45F exm1428448 19 11485561 [A/G] NM_175871 SWSAP1 EXON Missense_M48V exm1428470 19 11486643 [G/C] NM_175871 SWSAP1 EXON Missense_A214G exm1428478 19 11488725 [A/G] NR_033663,NM_000121 EPOR,EPOR EXON Silent,Missense_P488S exm1428487 19 11488877 [T/C] NR_033663,NM_000121 EPOR,EPOR EXON Silent,Missense_R437H exm1428493 19 11489049 [G/C] NR_033663,NM_000121 EPOR,EPOR EXON Silent,Missense_P380A exm1428504 19 11489369 [C/G] NR_033663,NM_000121 EPOR,EPOR EXON Silent,Missense_Q305E exm1428509 19 11491596 [A/C] NR_033663,NM_000121 EPOR,EPOR EXON Silent,Missense_V264G exm1428539 19 11493887 [T/C] NR_033663,NM_000121 EPOR,EPOR EXON Silent,Missense_G46E exm1428548 19 11505122 [A/G] NM_001161616,NM_001035223 RGL3,RGL3 EXON Missense_R703W,Missense_R697W exm1428549 19 11505146 [T/C] NM_001161616,NM_001035223 RGL3,RGL3 EXON Missense_A695T,Missense_A689T exm1428554 19 11507998 [A/G] NM_001161616,NM_001035223 RGL3,RGL3 EXON Nonsense_R652X,Nonsense_R646X exm1428559 19 11508144 [T/C] NM_001161616,NM_001035223 RGL3,RGL3 EXON Missense_G632R,Missense_G626R exm1428560 19 11508177 [A/G] NM_001161616,NM_001035223 RGL3,RGL3 EXON Missense_R621C,Missense_R615C exm1428562 19 11508192 [A/G] NM_001161616,NM_001035223 RGL3,RGL3 EXON Nonsense_Q616X,Nonsense_Q610X exm1428578 19 11510740 [C/G] NM_001161616,NM_001035223 RGL3,RGL3 EXON Missense_G542A,Missense_G542A exm1428580 19 11510743 [A/G] NM_001161616,NM_001035223 RGL3,RGL3 EXON Missense_P541L,Missense_P541L exm1428582 19 11510877 [T/C] NM_001161616,NM_001035223 RGL3,RGL3 Silent,Silent exm1428583 19 11510887 [T/C] NM_001161616,NM_001035223 RGL3,RGL3 EXON Missense_R524H,Missense_R524H exm1428591 19 11510960 [A/G] NM_001161616,NM_001035223 RGL3,RGL3 EXON Missense_R500W,Missense_R500W exm1428592 19 11510968 [T/C] NM_001161616,NM_001035223 RGL3,RGL3 EXON Missense_R497Q,Missense_R497Q exm1428600 19 11512809 [T/C] NM_001161616,NM_001035223 RGL3,RGL3 Silent,Silent exm1921382 19 11515824 [T/A] NM_001161616,NM_001035223 RGL3,RGL3 EXON Missense_Q395L,Missense_Q395L exm1428616 19 11516012 [G/C] NM_001161616,NM_001035223 RGL3,RGL3 EXON Missense_G363R,Missense_G363R exm1428618 19 11516014 [G/C] NM_001161616,NM_001035223 RGL3,RGL3 EXON Missense_W362S,Missense_W362S exm1428620 19 11516086 [T/C] NM_001161616,NM_001035223 RGL3,RGL3 EXON Missense_R338Q,Missense_R338Q exm1428631 19 11517423 [C/G] NM_001161616,NM_001035223 RGL3,RGL3 EXON Missense_A252G,Missense_A252G exm1428643 19 11526765 [T/G] NM_001161616,NM_001035223 RGL3,RGL3 EXON Missense_P162H,Missense_P162H exm1428654 19 11527538 [A/G] NM_001161616,NM_001035223 RGL3,RGL3 EXON Missense_P115S,Missense_P115S exm1428657 19 11527628 [T/C] NM_001161616,NM_001035223 RGL3,RGL3 EXON Missense_D85N,Missense_D85N exm2228263 19 11531272 [T/G] NM_145045 CCDC151 EXON Silent exm1428690 19 11531865 [T/C] NM_145045 CCDC151 EXON Missense_E536K exm1428695 19 11532434 [T/C] NM_145045 CCDC151 EXON Missense_G501S exm1428706 19 11534665 [C/G] NM_145045 CCDC151 EXON Missense_D333H exm2272817 19 11536575 [T/C] NM_145045 CCDC151 Silent exm1428718 19 11537510 [T/C] NM_145045 CCDC151 EXON Missense_Y236C exm1428723 19 11537729 [A/C] NM_145045 CCDC151 EXON Missense_M192I exm1428724 19 11537779 [T/C] NM_145045 CCDC151 EXON Missense_R176G exm1428730 19 11541560 [A/C] NM_145045 CCDC151 EXON Missense_W135G exm1428732 19 11541565 [T/C] NM_145045 CCDC151 EXON Missense_R133H exm1428738 19 11541831 [T/C] NM_145045 CCDC151 EXON Missense_R85Q exm1428739 19 11541835 [G/C] NM_145045 CCDC151 EXON Missense_D84H exm1428743 19 11545665 [A/G] NM_145045 CCDC151 EXON Missense_F58S exm1428744 19 11545690 [A/G] NM_145045 CCDC151 EXON Missense_P50S exm2228264 19 11546269 [A/G] NM_001001329,NM_002743 PRKCSH,PRKCSH EXON Silent,Silent exm1428752 19 11547212 [T/C] NM_001001329,NM_002743 PRKCSH,PRKCSH EXON Missense_H28Y,Missense_H28Y exm1428761 19 11547306 [A/G] NM_001001329,NM_002743 PRKCSH,PRKCSH EXON Missense_K59R,Missense_K59R exm1428775 19 11552158 [T/C] NM_001001329,NM_002743 PRKCSH,PRKCSH EXON Missense_R152W,Missense_R152W exm1428794 19 11557926 [T/C] NM_001001329,NM_002743 PRKCSH,PRKCSH EXON Missense_S267F,Missense_S267F exm1428797 19 11557935 [A/G] NM_001001329,NM_002743 PRKCSH,PRKCSH EXON Missense_D270G,Missense_D270G exm1428800 19 11557949 [A/G] NM_001001329,NM_002743 PRKCSH,PRKCSH EXON Missense_A275T,Missense_A275T exm1428806 19 11558266 [A/G] NM_001001329,NM_002743 PRKCSH,PRKCSH EXON Missense_D288N,Missense_D288N exm1428807 19 11558275 [A/G] NM_001001329,NM_002743 PRKCSH,PRKCSH EXON Missense_A291T,Missense_A291T exm1428824 19 11558518 [T/C] NM_001001329,NM_002743 PRKCSH,PRKCSH EXON Silent,Missense_P340L exm2228266 19 11559072 [G/C] NM_001001329,NM_002743 PRKCSH,PRKCSH EXON Missense_E378Q,Missense_E381Q exm1428838 19 11559428 [A/G] NM_001001329,NM_002743 PRKCSH,PRKCSH EXON Missense_E414K,Missense_E417K exm1428839 19 11559441 [A/C] NM_001001329,NM_002743 PRKCSH,PRKCSH EXON Missense_N418T,Missense_N421T exm1428845 19 11559734 [T/C] NM_001001329,NM_002743 PRKCSH,PRKCSH EXON Missense_V421A,Missense_V424A exm1428852 19 11559907 [A/G] NM_001001329,NM_002743 PRKCSH,PRKCSH EXON Missense_I450V,Missense_I453V exm1428855 19 11559922 [A/G] NM_001001329,NM_002743 PRKCSH,PRKCSH EXON Missense_D455N,Missense_D458N exm2253627 19 11565509 [A/G] NM_032281,NM_001420 ELAVL3,ELAVL3 EXON Synonymous_N305N,Synonymous_N312N exm1428958 19 11597866 [T/C] NM_138783 ZNF653 EXON Missense_G427R exm1428959 19 11597871 [A/G] NM_138783 ZNF653 EXON Missense_A425V exm1428962 19 11597938 [T/C] NM_138783 ZNF653 EXON Missense_K403E exm1428965 19 11598125 [T/C] NM_138783 ZNF653 EXON Missense_G385S exm1428966 19 11598133 [A/G] NM_138783 ZNF653 EXON Missense_A382V exm1428972 19 11598224 [T/C] NM_138783 ZNF653 EXON Missense_E352K exm1428974 19 11598232 [A/C] NM_138783 ZNF653 EXON Missense_G349V exm1428984 19 11598381 [A/C] NM_138783 ZNF653 EXON Missense_E299D exm1428987 19 11598407 [T/C] NM_138783 ZNF653 EXON Missense_A291T exm1428989 19 11598443 [T/C] NM_138783 ZNF653 EXON Missense_V279M exm1921545 19 11598502 [T/G] NM_138783 ZNF653 EXON Missense_T259N exm1428994 19 11598527 [T/C] NM_138783 ZNF653 EXON Missense_V251M exm1429005 19 11598634 [A/G] NM_138783 ZNF653 EXON Missense_P215L exm1429029 19 11617079 [T/C] NM_016581,NM_001142465,NM_001142464,NM_001243204 ECSIT,ECSIT,ECSIT,ECSIT EXON Missense_G406R,Missense_G192R,Silent,Silent exm1429045 19 11618314 [T/C] NM_016581,NM_001142465,NM_001142464,NM_001243204 ECSIT,ECSIT,ECSIT,ECSIT EXON Missense_V337M,Missense_V123M,Missense_C287Y,Missense_M296I exm1429047 19 11618518 [A/C] NM_016581,NM_001142465,NM_001142464,NM_001243204 ECSIT,ECSIT,ECSIT,ECSIT EXON Missense_R315M,Missense_R101M,Silent,Missense_G275W exm1429050 19 11618614 [T/C] NM_016581,NM_001142465,NM_001142464,NM_001243204 ECSIT,ECSIT,ECSIT,ECSIT EXON Missense_R283Q,Missense_R69Q,Silent,Silent exm1429060 19 11618827 [T/G] NM_016581,NM_001142465,NM_001142464,NM_001243204 ECSIT,ECSIT,ECSIT,ECSIT EXON Missense_P259T,Missense_P45T,Missense_P259T,Missense_P259T exm1429070 19 11623977 [T/C] NM_016581,NM_001142465,NM_001142464,NM_001243204 ECSIT,ECSIT,ECSIT,ECSIT EXON Missense_N211S,Silent,Missense_N211S,Missense_N211S exm1429076 19 11624687 [T/C] NM_016581,NM_001142465,NM_001142464,NM_001243204 ECSIT,ECSIT,ECSIT,ECSIT EXON Missense_R149H,Silent,Missense_R149H,Missense_R149H exm1429078 19 11624709 [A/G] NM_016581,NM_001142465,NM_001142464,NM_001243204 ECSIT,ECSIT,ECSIT,ECSIT EXON Missense_R142W,Silent,Missense_R142W,Missense_R142W exm1429079 19 11624714 [A/G] NM_016581,NM_001142465,NM_001142464,NM_001243204 ECSIT,ECSIT,ECSIT,ECSIT EXON Missense_V140A,Silent,Missense_V140A,Missense_V140A exm1429081 19 11624789 [A/C] NM_016581,NM_001142465,NM_001142464,NM_001243204 ECSIT,ECSIT,ECSIT,ECSIT EXON Missense_R115L,Silent,Missense_R115L,Missense_R115L exm1429086 19 11624829 [A/G] NM_016581,NM_001142465,NM_001142464,NM_001243204 ECSIT,ECSIT,ECSIT,ECSIT EXON Missense_R102C,Silent,Missense_R102C,Missense_R102C exm1429097 19 11625018 [A/G] NM_016581,NM_001142465,NM_001142464,NM_001243204 ECSIT,ECSIT,ECSIT,ECSIT EXON Missense_R39W,Silent,Missense_R39W,Missense_R39W exm1429122 19 11657509 [T/C] NM_001299 CNN1 EXON Missense_P69S exm1429132 19 11658682 [T/C] NM_001299 CNN1 EXON Missense_P154L exm1429139 19 11660167 [C/G] NM_001299 CNN1 EXON Missense_Q177H exm1921600 19 11660584 [A/G] NM_001299 CNN1 EXON Missense_A290T exm-rs7253363 19 11682495 [T/G] exm1429184 19 11685943 [T/G] NM_001611,NM_001111034,NM_001111035,NM_001111036 ACP5,ACP5,ACP5,ACP5 EXON Missense_D287A,Missense_D287A,Missense_D287A,Missense_D287A exm1429202 19 11687132 [T/C] NM_001611,NM_001111034,NM_001111035,NM_001111036 ACP5,ACP5,ACP5,ACP5 EXON Missense_V221I,Missense_V221I,Missense_V221I,Missense_V221I exm1429210 19 11687195 [T/C] NM_001611,NM_001111034,NM_001111035,NM_001111036 ACP5,ACP5,ACP5,ACP5 EXON Missense_V200M,Missense_V200M,Missense_V200M,Missense_V200M exm1429214 19 11687249 [A/G] NM_001611,NM_001111034,NM_001111035,NM_001111036 ACP5,ACP5,ACP5,ACP5 EXON Missense_R182C,Missense_R182C,Missense_R182C,Missense_R182C exm1429221 19 11687351 [T/C] NM_001611,NM_001111034,NM_001111035,NM_001111036 ACP5,ACP5,ACP5,ACP5 EXON Missense_V148M,Missense_V148M,Missense_V148M,Missense_V148M exm1429223 19 11687372 [A/C] NM_001611,NM_001111034,NM_001111035,NM_001111036 ACP5,ACP5,ACP5,ACP5 EXON Missense_F141V,Missense_F141V,Missense_F141V,Missense_F141V exm1429224 19 11687380 [T/C] NM_001611,NM_001111034,NM_001111035,NM_001111036 ACP5,ACP5,ACP5,ACP5 EXON Missense_R138H,Missense_R138H,Missense_R138H,Missense_R138H exm2253629 19 11688103 [A/C] NM_001611,NM_001111034,NM_001111035,NM_001111036 ACP5,ACP5,ACP5,ACP5 EXON Synonymous_L10L,Synonymous_L10L,Synonymous_L10L,Synonymous_L10L exm1429241 19 11688103 [A/C] NM_001611,NM_001111034,NM_001111035,NM_001111036 ACP5,ACP5,ACP5,ACP5 EXON Synonymous_L10L,Synonymous_L10L,Synonymous_L10L,Synonymous_L10L exm1429242 19 11688116 [A/G] NM_001611,NM_001111034,NM_001111035,NM_001111036 ACP5,ACP5,ACP5,ACP5 EXON Missense_A6V,Missense_A6V,Missense_A6V,Missense_A6V exm1429270 19 11727763 [A/G] NM_145295 ZNF627 EXON Missense_S149G exm1429274 19 11727866 [A/G] NM_145295 ZNF627 EXON Missense_R183Q exm1429279 19 11728130 [A/G] NM_145295 ZNF627 EXON Missense_R271Q exm2264671 19 11771482 [A/C] exm1429335 19 11832649 [G/C] NM_001080493 ZNF823 EXON Missense_S567C exm1429341 19 11832835 [A/C] NM_001080493 ZNF823 EXON Missense_R505I exm1429358 19 11833390 [T/C] NM_001080493 ZNF823 EXON Missense_R320Q exm2253630 19 11833527 [T/C] NM_001080493 ZNF823 EXON Synonymous_K274K exm1429376 19 11833891 [C/G] NM_001080493 ZNF823 EXON Missense_T153R exm1921684 19 11833935 [A/T] NM_001080493 ZNF823 EXON Missense_H138Q exm1429383 19 11834030 [T/C] NM_001080493 ZNF823 EXON Missense_V107I exm1429405 19 11890983 [A/G] NM_152355 ZNF441 EXON Missense_R115H exm1429406 19 11891003 [A/G] NM_152355 ZNF441 EXON Missense_V122I exm1429408 19 11891145 [A/G] NM_152355 ZNF441 EXON Missense_Y169C exm1429411 19 11891222 [T/C] NM_152355 ZNF441 EXON Missense_P195S exm1429423 19 11891486 [A/G] NM_152355 ZNF441 EXON Missense_K283E exm1429434 19 11891799 [C/G] NM_152355 ZNF441 EXON Missense_T387S exm1429440 19 11892099 [T/C] NM_152355 ZNF441 EXON Missense_L487P exm1921700 19 11892137 [A/G] NM_152355 ZNF441 EXON Missense_D500N exm1429454 19 11892539 [A/G] NM_152355 ZNF441 EXON Missense_E634K exm1429466 19 11916890 [T/C] NM_152356 ZNF491 EXON Missense_T41I exm1429468 19 11916914 [A/G] NM_152356 ZNF491 EXON Missense_Y49C exm1921709 19 11916940 [A/T] NM_152356 ZNF491 EXON Missense_T58S exm1429471 19 11917039 [T/C] NM_152356 ZNF491 EXON Nonsense_R91X exm1429475 19 11917093 [G/C] NM_152356 ZNF491 EXON Missense_E109Q exm1429476 19 11917109 [A/C] NM_152356 ZNF491 EXON Missense_S114Y exm1429477 19 11917123 [T/C] NM_152356 ZNF491 EXON Nonsense_R119X exm1429478 19 11917124 [A/G] NM_152356 ZNF491 EXON Missense_R119Q exm1429481 19 11917175 [T/G] NM_152356 ZNF491 EXON Missense_C136F exm1921714 19 11917484 [A/G] NM_152356 ZNF491 EXON Missense_G239E exm1429497 19 11917496 [A/G] NM_152356 ZNF491 EXON Missense_Y243C exm1429502 19 11917544 [A/G] NM_152356 ZNF491 EXON Missense_R259Q exm1921718 19 11917594 [T/C] NM_152356 ZNF491 EXON Missense_C276R exm1429503 19 11917637 [A/C] NM_152356 ZNF491 EXON Missense_E290A exm1921728 19 11917856 [T/C] NM_152356 ZNF491 EXON Missense_A363V exm1429514 19 11917886 [A/G] NM_152356 ZNF491 EXON Missense_H373R exm1429517 19 11917922 [A/G] NM_152356 ZNF491 EXON Missense_C385Y exm1921730 19 11918051 [A/G] NM_152356 ZNF491 EXON Missense_K428R exm1429552 19 11942457 [T/C] NM_152357 ZNF440 EXON Missense_R156C exm1429553 19 11942458 [A/G] NM_152357 ZNF440 EXON Missense_R156H exm1429558 19 11942562 [A/G] NM_152357 ZNF440 EXON Missense_M191V exm2228286 19 11942565 [T/G] NM_152357 ZNF440 EXON Missense_V192L exm2228287 19 11942662 [T/G] NM_152357 ZNF440 EXON Missense_G224V exm1429563 19 11942673 [T/C] NM_152357 ZNF440 EXON Missense_C228R exm1429564 19 11942721 [T/C] NM_152357 ZNF440 EXON Nonsense_R244X exm1429568 19 11942805 [T/C] NM_152357 ZNF440 EXON Missense_R272C exm1429569 19 11942806 [A/G] NM_152357 ZNF440 EXON Missense_R272H exm1921742 19 11943022 [T/C] NM_152357 ZNF440 EXON Missense_I344T exm1429607 19 11943462 [T/C] NM_152357 ZNF440 EXON Missense_R491C exm1429612 19 11943552 [A/G] NM_152357 ZNF440 EXON Missense_G521R exm1429619 19 11943697 [A/G] NM_152357 ZNF440 EXON Missense_S569N exm1429623 19 11943762 [T/G] NM_152357 ZNF440 EXON Nonsense_G591X exm2228289 19 11977110 [T/G] NM_152262 ZNF439 EXON Missense_V47L exm1429633 19 11977147 [A/G] NM_152262 ZNF439 Silent exm1429636 19 11977353 [A/G] NM_152262 ZNF439 EXON Synonymous_G59G exm2228291 19 11978417 [T/G] NM_152262 ZNF439 EXON Missense_R178M exm1429658 19 11978629 [A/G] NM_152262 ZNF439 EXON Missense_K249E exm1429682 19 11979254 [A/G] NM_152262 ZNF439 EXON Missense_R457H exm1429685 19 11979329 [A/G] NM_152262 ZNF439 EXON Missense_R482Q exm1429706 19 12015694 [T/C] NM_021915 ZNF69 EXON Missense_P147L exm1429737 19 12058083 [A/G] NM_001271848,NM_144566 ZNF700,ZNF700 EXON Missense_E54K,Missense_E51K exm1429744 19 12058390 [A/G] NM_001271848,NM_144566 ZNF700,ZNF700 Silent,Silent exm1429745 19 12059114 [A/G] NM_001271848,NM_144566 ZNF700,ZNF700 EXON Missense_N95S,Missense_N92S exm1429756 19 12059352 [T/G] NM_001271848,NM_144566 ZNF700,ZNF700 EXON Missense_N174K,Missense_N171K exm1429760 19 12059467 [C/G] NM_001271848,NM_144566 ZNF700,ZNF700 EXON Missense_R213G,Missense_R210G exm1429766 19 12059543 [A/G] NM_001271848,NM_144566 ZNF700,ZNF700 EXON Missense_S238N,Missense_S235N exm1429772 19 12059645 [A/G] NM_001271848,NM_144566 ZNF700,ZNF700 EXON Missense_E272G,Missense_E269G exm1429775 19 12059699 [T/G] NM_001271848,NM_144566 ZNF700,ZNF700 EXON Missense_F290C,Missense_F287C exm1429781 19 12059800 [G/C] NM_001271848,NM_144566 ZNF700,ZNF700 EXON Missense_L324V,Missense_L321V exm2228296 19 12059858 [A/G] NM_001271848,NM_144566 ZNF700,ZNF700 EXON Missense_G343E,Missense_G340E exm1429788 19 12059879 [T/C] NM_001271848,NM_144566 ZNF700,ZNF700 EXON Missense_I350T,Missense_I347T exm2253631 19 12060786 [A/G] NM_001271848,NM_144566 ZNF700,ZNF700 EXON Synonymous_E652E,Synonymous_E649E exm1429847 19 12060947 [A/C] NM_001271848,NM_144566 ZNF700,ZNF700 EXON Missense_H706P,Missense_H703P exm1429867 19 12088221 [T/C] NM_001012753 ZNF763 EXON Missense_Y59H exm1429877 19 12089040 [T/C] NM_001012753 ZNF763 EXON Missense_P104S exm1429879 19 12089060 [T/G] NM_001012753 ZNF763 EXON Missense_D110E exm1429881 19 12089065 [T/C] NM_001012753 ZNF763 EXON Missense_F112S exm1429882 19 12089067 [A/G] NM_001012753 ZNF763 EXON Missense_V113I exm1429893 19 12089241 [A/G] NM_001012753 ZNF763 EXON Missense_G171R exm1429895 19 12089259 [T/C] NM_001012753 ZNF763 EXON Missense_C177R exm1429898 19 12089307 [T/C] NM_001012753 ZNF763 EXON Missense_R193C exm1429907 19 12089538 [A/G] NM_001012753 ZNF763 EXON Missense_S270G exm1429912 19 12089659 [C/G] NM_001012753 ZNF763 EXON Missense_T310S exm1429914 19 12089709 [T/C] NM_001012753 ZNF763 EXON Missense_Y327H exm1429915 19 12089743 [T/C] NM_001012753 ZNF763 EXON Missense_T338M exm2253633 19 12089744 [A/G] NM_001012753 ZNF763 EXON Synonymous_T338T exm1429920 19 12089805 [C/G] NM_001012753 ZNF763 EXON Missense_R359G exm1429931 19 12125739 [T/C] NM_001080411 ZNF433 EXON Missense_C648Y exm2228301 19 12125819 [G/C] NM_001080411 ZNF433 EXON Missense_K621N exm2228302 19 12125862 [A/C] NM_001080411 ZNF433 EXON Missense_M607R exm1921840 19 12126129 [A/G] NM_001080411 ZNF433 EXON Missense_S518L exm1429958 19 12126348 [A/G] NM_001080411 ZNF433 EXON Missense_T445M exm1429964 19 12126454 [A/G] NM_001080411 ZNF433 EXON Nonsense_R410X exm1429969 19 12126709 [A/C] NM_001080411 ZNF433 EXON Missense_V325F exm1429990 19 12127104 [T/C] NM_001080411 ZNF433 EXON Missense_R193H exm1429995 19 12127224 [G/C] NM_001080411 ZNF433 EXON Missense_C153S exm1429996 19 12127254 [T/G] NM_001080411 ZNF433 EXON Missense_K143T exm1430004 19 12128726 [T/C] NM_001080411 ZNF433 EXON Missense_I55M exm1430007 19 12128983 [A/G] NM_001080411 ZNF433 EXON Missense_I46T exm1430012 19 12129068 [T/G] NM_001080411 ZNF433 EXON Missense_Q18K exm-rs3745672 19 12146370 [T/C] NM_001080411 ZNF433 EXON Silent exm1921858 19 12154684 [T/C] NM_001080404 ZNF878 EXON Missense_Q511R exm1430023 19 12154799 [C/G] NM_001080404 ZNF878 EXON Missense_H473D exm1430037 19 12155148 [T/C] NM_001080404 ZNF878 EXON Missense_I356M exm1430040 19 12155237 [A/G] NM_001080404 ZNF878 EXON Missense_R327C exm1430043 19 12155320 [T/C] NM_001080404 ZNF878 EXON Missense_R299Q exm1430047 19 12155443 [T/G] NM_001080404 ZNF878 EXON Missense_K258T exm1430049 19 12155456 [A/G] NM_001080404 ZNF878 EXON Missense_R254C exm1430067 19 12157205 [A/G] NM_001080404 ZNF878 EXON Nonsense_Q57X exm1921865 19 12157451 [A/T] NM_001080404 ZNF878 EXON Missense_I43K exm1430074 19 12157571 [A/G] NM_001080404 ZNF878 EXON Missense_S3L exm2275037 19 12186272 [A/G] NM_001136501 ZNF844 EXON Missense_V113M exm1430090 19 12186372 [A/G] NM_001136501 ZNF844 EXON Missense_R146H exm1430102 19 12186761 [A/G] NM_001136501 ZNF844 EXON Missense_T276A exm1430105 19 12186857 [G/C] NM_001136501 ZNF844 EXON Missense_A308P exm1430106 19 12186921 [T/C] NM_001136501 ZNF844 EXON Missense_V329A exm1430109 19 12186992 [A/G] NM_001136501 ZNF844 EXON Missense_R353G exm1430110 19 12187001 [A/G] NM_001136501 ZNF844 EXON Missense_K356E exm1430111 19 12187020 [A/G] NM_001136501 ZNF844 EXON Missense_R362K exm1430124 19 12187685 [A/T] NM_001136501 ZNF844 EXON Missense_M584L exm1430130 19 12187861 [T/G] NM_001136501 ZNF844 EXON Missense_I642M exm1430131 19 12187907 [A/G] NM_001136501 ZNF844 EXON Missense_V658I exm-rs17638629 19 12225372 [T/G] NR_027049 ZNF788 EXON Silent exm1430154 19 12243838 [A/G] NM_021143,NR_037802,NM_001203250 ZNF20,ZNF625-ZNF20,ZNF20 EXON Missense_T388M,Silent,Missense_T385M exm2228312 19 12244060 [T/C] NM_021143,NR_037802,NM_001203250 ZNF20,ZNF625-ZNF20,ZNF20 EXON Missense_K314R,Silent,Missense_K311R exm1430165 19 12244125 [C/G] NM_021143,NR_037802,NM_001203250 ZNF20,ZNF625-ZNF20,ZNF20 EXON Missense_F292L,Silent,Missense_F289L exm1430166 19 12244199 [T/G] NM_021143,NR_037802,NM_001203250 ZNF20,ZNF625-ZNF20,ZNF20 EXON Missense_S268R,Silent,Missense_S265R exm1430169 19 12244232 [A/G] NM_021143,NR_037802,NM_001203250 ZNF20,ZNF625-ZNF20,ZNF20 EXON Missense_C257R,Silent,Missense_C254R exm1430177 19 12244289 [A/G] NM_021143,NR_037802,NM_001203250 ZNF20,ZNF625-ZNF20,ZNF20 EXON Missense_R238C,Silent,Missense_R235C exm1430186 19 12244624 [A/G] NM_021143,NR_037802,NM_001203250 ZNF20,ZNF625-ZNF20,ZNF20 EXON Missense_A126V,Silent,Missense_A123V exm1430187 19 12244657 [A/G] NM_021143,NR_037802,NM_001203250 ZNF20,ZNF625-ZNF20,ZNF20 EXON Missense_T115M,Silent,Missense_T112M exm1430227 19 12256912 [T/C] NR_037802,NM_145233,NR_037801 ZNF625-ZNF20,ZNF625,ZNF625 EXON Silent,Missense_V107M,Silent exm1430228 19 12256936 [C/G] NR_037802,NM_145233,NR_037801 ZNF625-ZNF20,ZNF625,ZNF625 EXON Silent,Missense_V99L,Silent exm1430233 19 12296604 [T/C] NM_003437 ZNF136 EXON Missense_S3L exm1430240 19 12296941 [A/G] NM_003437 ZNF136 EXON Missense_K48R exm1430243 19 12296974 [A/G] NM_003437 ZNF136 EXON Missense_R59Q exm1430246 19 12297392 [A/G] NM_003437 ZNF136 EXON Missense_M67V exm1430249 19 12297513 [A/G] NM_003437 ZNF136 EXON Missense_Y107C exm1430250 19 12297520 [A/C] NM_003437 ZNF136 EXON Missense_E109D exm1430279 19 12298436 [A/G] NM_003437 ZNF136 EXON Missense_T415A exm1430291 19 12298632 [A/G] NM_003437 ZNF136 EXON Missense_R480Q exm1430296 19 12298740 [A/G] NM_003437 ZNF136 EXON Missense_R516H exm1430299 19 12298811 [G/C] NM_003437 ZNF136 EXON Missense_L540V exm1430308 19 12383526 [T/C] NM_016264,NM_001164276 ZNF44,ZNF44 EXON Missense_R515H,Missense_R563H exm1430317 19 12383700 [A/G] NM_016264,NM_001164276 ZNF44,ZNF44 EXON Missense_F457S,Missense_F505S exm1430319 19 12383743 [A/G] NM_016264,NM_001164276 ZNF44,ZNF44 EXON Missense_H443Y,Missense_H491Y exm1430325 19 12383893 [A/G] NM_016264,NM_001164276 ZNF44,ZNF44 EXON Missense_H393Y,Missense_H441Y exm1430334 19 12384047 [T/C] NM_016264,NM_001164276 ZNF44,ZNF44 EXON Missense_I341M,Missense_I389M exm1430337 19 12384105 [T/C] NM_016264,NM_001164276 ZNF44,ZNF44 EXON Missense_G322E,Missense_G370E exm1430340 19 12384120 [A/G] NM_016264,NM_001164276 ZNF44,ZNF44 EXON Missense_A317V,Missense_A365V exm1430357 19 12384580 [T/C] NM_016264,NM_001164276 ZNF44,ZNF44 EXON Missense_T164A,Missense_T212A exm1430368 19 12384822 [A/G] NM_016264,NM_001164276 ZNF44,ZNF44 EXON Missense_T83I,Missense_T131I exm1430372 19 12385848 [C/G] NM_016264,NM_001164276 ZNF44,ZNF44 EXON Missense_G44A,Missense_G92A exm1430373 19 12386800 [C/G] NM_016264,NM_001164276 ZNF44,ZNF44 EXON Missense_R34P,Missense_R82P exm1430375 19 12404090 [T/C] NM_016264,NM_001164276 ZNF44,ZNF44 EXON Silent,Missense_R35K exm1430399 19 12429912 [T/A] NM_145276 ZNF563 EXON Nonsense_Y309X exm1430400 19 12429913 [T/G] NM_145276 ZNF563 EXON Missense_Y309S exm1430416 19 12430286 [A/G] NM_145276 ZNF563 EXON Nonsense_R185X exm1430419 19 12430363 [T/C] NM_145276 ZNF563 EXON Missense_R159H exm1430422 19 12430402 [T/C] NM_145276 ZNF563 EXON Missense_R146H exm1430423 19 12430462 [A/G] NM_145276 ZNF563 EXON Missense_S126F exm1430425 19 12430531 [T/C] NM_145276 ZNF563 EXON Missense_C103Y exm1922023 19 12430612 [T/C] NM_145276 ZNF563 EXON Missense_D76G exm1430430 19 12433522 [T/C] NM_145276 ZNF563 EXON Missense_A3T exm1430436 19 12460517 [A/T] NM_030824 ZNF442 EXON Missense_X628K exm1430445 19 12460714 [T/C] NM_030824 ZNF442 EXON Missense_H562R exm1430448 19 12460783 [G/C] NM_030824 ZNF442 EXON Missense_T539S exm1430480 19 12461510 [A/G] NM_030824 ZNF442 EXON Nonsense_R297X exm1430484 19 12461614 [T/C] NM_030824 ZNF442 EXON Missense_E262G exm2275038 19 12461834 [T/C] NM_030824 ZNF442 EXON Missense_T189A exm1430504 19 12461945 [A/G] NM_030824 ZNF442 EXON Missense_P152S exm1430505 19 12461956 [T/A] NM_030824 ZNF442 EXON Missense_Y148F exm2228324 19 12462005 [A/C] NM_030824 ZNF442 EXON Missense_C132G exm1430508 19 12462026 [T/C] NM_030824 ZNF442 EXON Missense_M125V exm1430511 19 12462071 [T/G] NM_030824 ZNF442 EXON Missense_P110T exm1430512 19 12462080 [T/C] NM_030824 ZNF442 EXON Missense_N107D exm1430514 19 12462101 [A/G] NM_030824 ZNF442 EXON Missense_R100C exm1430519 19 12462839 [A/G] NM_030824 ZNF442 EXON Missense_P84L exm1430521 19 12462873 [A/C] NM_030824 ZNF442 EXON Nonsense_E73X exm1430524 19 12463856 [T/C] NM_030824 ZNF442 EXON Missense_K51E exm1430531 19 12474388 [A/T] NM_030824 ZNF442 EXON Missense_N20Y exm1430561 19 12501695 [A/C] NM_001080821 ZNF799 EXON Missense_C506F exm1430564 19 12501801 [T/C] NM_001080821 ZNF799 EXON Missense_A471T exm1430576 19 12502062 [T/C] NM_001080821 ZNF799 EXON Missense_M384V exm1430580 19 12502161 [T/A] NM_001080821 ZNF799 EXON Missense_S351T exm1430581 19 12502184 [T/C] NM_001080821 ZNF799 EXON Missense_G343E exm1430585 19 12502262 [A/G] NM_001080821 ZNF799 EXON Missense_A317V exm1430588 19 12502301 [A/G] NM_001080821 ZNF799 EXON Missense_T304I exm1922083 19 12502893 [T/C] NM_001080821 ZNF799 EXON Missense_M107V exm1430617 19 12502935 [T/C] NM_001080821 ZNF799 EXON Missense_T93A exm1430638 19 12541214 [T/G] NM_005815 ZNF443 EXON Missense_P591Q exm1430648 19 12541341 [C/G] NM_005815 ZNF443 EXON Missense_V549L exm1430656 19 12541497 [T/C] NM_005815 ZNF443 EXON Missense_T497A exm1430692 19 12542144 [T/C] NM_005815 ZNF443 EXON Missense_Y281C exm1922141 19 12542631 [T/C] NM_005815 ZNF443 EXON Missense_N119D exm1430724 19 12542685 [T/C] NM_005815 ZNF443 EXON Missense_G101S exm1430755 19 12574827 [T/C] NM_152601 ZNF709 EXON Missense_V637I exm1430757 19 12574850 [A/C] NM_152601 ZNF709 EXON Missense_R629L exm1430778 19 12575687 [T/C] NM_152601 ZNF709 EXON Missense_S350N exm1430789 19 12575894 [T/C] NM_152601 ZNF709 EXON Missense_Q281R exm1922189 19 12577302 [A/C] NM_152601 ZNF709 EXON Missense_D54E exm1430814 19 12637322 [T/C] NM_144976 ZNF564 EXON Missense_V534I exm1430815 19 12637384 [A/G] NM_144976 ZNF564 EXON Missense_T513M exm1430851 19 12638515 [T/C] NM_144976 ZNF564 EXON Missense_Y136C exm1430853 19 12638602 [A/C] NM_144976 ZNF564 EXON Missense_L107W exm2268180 19 12641232 [A/G] NM_144976 ZNF564 Silent exm1430872 19 12691484 [T/C] NM_020714 ZNF490 EXON Missense_T469A exm1430876 19 12691529 [T/C] NM_020714 ZNF490 EXON Missense_V454I exm1430879 19 12691613 [T/C] NM_020714 ZNF490 EXON Missense_A426T exm1430880 19 12691634 [T/C] NM_020714 ZNF490 EXON Missense_E419K exm1430885 19 12691723 [G/C] NM_020714 ZNF490 EXON Missense_P389R exm1430889 19 12691820 [T/C] NM_020714 ZNF490 EXON Missense_T357A exm2268218 19 12692001 [A/G] NM_020714 ZNF490 EXON Synonymous_H296H exm1430900 19 12692033 [A/C] NM_020714 ZNF490 EXON Missense_A286S exm1430904 19 12692130 [G/C] NM_020714 ZNF490 EXON Missense_K253N exm1430912 19 12692328 [A/G] NM_020714 ZNF490 EXON Synonymous_H187H exm1430916 19 12692476 [T/C] NM_020714 ZNF490 EXON Missense_S138N exm1430920 19 12693723 [T/C] NM_020714 ZNF490 EXON Synonymous_G97G exm1430928 19 12694331 [C/G] NM_020714 ZNF490 EXON Missense_L68V exm1430936 19 12721401 [T/C] NM_020714 ZNF490 EXON Missense_T32A exm1430954 19 12738543 [T/C] NM_153358 ZNF791 EXON Missense_T67M exm1430963 19 12738882 [A/G] NM_153358 ZNF791 EXON Missense_R180Q exm1922301 19 12757477 [T/C] NM_001173498,NM_000528 MAN2B1,MAN2B1 EXON Missense_R997H,Missense_R998H exm1431000 19 12758053 [T/C] NM_001173498,NM_000528 MAN2B1,MAN2B1 EXON Missense_N972D,Missense_N973D exm1431005 19 12758121 [T/C] NM_001173498,NM_000528 MAN2B1,MAN2B1 EXON Missense_R949H,Missense_R950H exm1431008 19 12758292 [A/G] NM_001173498,NM_000528 MAN2B1,MAN2B1 EXON Missense_R928C,Missense_R929C exm1922313 19 12759147 [C/G] NM_001173498,NM_000528 MAN2B1,MAN2B1 EXON Missense_A835P,Missense_A836P exm1431022 19 12759152 [A/G] NM_001173498,NM_000528 MAN2B1,MAN2B1 EXON Missense_S833L,Missense_S834L exm1431028 19 12759982 [T/C] NM_001173498,NM_000528 MAN2B1,MAN2B1 EXON Missense_S801G,Missense_S802G exm1431029 19 12759985 [A/C] NM_001173498,NM_000528 MAN2B1,MAN2B1 EXON Missense_G800C,Missense_G801C exm1431040 19 12760734 [T/C] NM_001173498,NM_000528 MAN2B1,MAN2B1 EXON Missense_E753K,Missense_E754K exm1431042 19 12760746 [A/G] NM_001173498,NM_000528 MAN2B1,MAN2B1 EXON Missense_R749W,Missense_R750W exm1431044 19 12760773 [T/C] NM_001173498,NM_000528 MAN2B1,MAN2B1 EXON Missense_G740R,Missense_G741R exm1431049 19 12760922 [T/C] NM_001173498,NM_000528 MAN2B1,MAN2B1 EXON Missense_V720M,Missense_V721M exm1431052 19 12760961 [A/G] NM_001173498,NM_000528 MAN2B1,MAN2B1 EXON Missense_R707W,Missense_R708W exm1431061 19 12763007 [A/G] NM_001173498,NM_000528 MAN2B1,MAN2B1 EXON Missense_P668L,Missense_P669L exm1431063 19 12763052 [T/C] NM_001173498,NM_000528 MAN2B1,MAN2B1 EXON Missense_D653G,Missense_D654G exm1431071 19 12766507 [C/G] NM_001173498,NM_000528 MAN2B1,MAN2B1 Silent,Silent exm1431072 19 12766516 [T/C] NM_001173498,NM_000528 MAN2B1,MAN2B1 EXON Missense_E607K,Missense_E608K exm2275040 19 12766542 [A/C] NM_001173498,NM_000528 MAN2B1,MAN2B1 EXON Missense_R598I,Missense_R599I exm1431075 19 12766594 [C/G] NM_001173498,NM_000528 MAN2B1,MAN2B1 EXON Missense_Q581E,Missense_Q582E exm1431094 19 12767849 [A/C] NM_001173498,NM_000528 MAN2B1,MAN2B1 EXON Missense_A480S,Missense_A481S exm1431103 19 12768913 [A/C] NM_001173498,NM_000528 MAN2B1,MAN2B1 EXON Missense_V424L,Missense_V425L exm1431104 19 12768948 [T/C] NM_001173498,NM_000528 MAN2B1,MAN2B1 EXON Missense_N412S,Missense_N413S exm1431120 19 12772090 [T/C] NM_001173498,NM_000528 MAN2B1,MAN2B1 EXON Missense_R337Q,Missense_R337Q exm1431125 19 12772165 [A/G] NM_001173498,NM_000528 MAN2B1,MAN2B1 EXON Missense_T312I,Missense_T312I exm1431126 19 12772178 [A/G] NM_001173498,NM_000528 MAN2B1,MAN2B1 EXON Missense_R308C,Missense_R308C exm1431131 19 12774196 [A/G] NM_001173498,NM_000528 MAN2B1,MAN2B1 EXON Missense_P282S,Missense_P282S exm1431132 19 12774208 [C/G] NM_001173498,NM_000528 MAN2B1,MAN2B1 EXON Missense_L278V,Missense_L278V exm1431137 19 12774532 [A/C] NM_001173498,NM_000528 MAN2B1,MAN2B1 EXON Missense_A250S,Missense_A250S exm1431141 19 12774537 [A/G] NM_001173498,NM_000528 MAN2B1,MAN2B1 EXON Missense_P248L,Missense_P248L exm2275041 19 12774561 [T/C] NM_001173498,NM_000528 MAN2B1,MAN2B1 EXON Missense_R240Q,Missense_R240Q exm1431142 19 12774562 [A/G] NM_001173498,NM_000528 MAN2B1,MAN2B1 EXON Missense_R240W,Missense_R240W exm1431146 19 12775627 [A/C] NM_001173498,NM_000528 MAN2B1,MAN2B1 EXON Missense_E203D,Missense_E203D exm1431151 19 12775781 [T/C] NM_001173498,NM_000528 MAN2B1,MAN2B1 EXON Missense_N152S,Missense_N152S exm1431154 19 12776183 [T/C] NM_001173498,NM_000528 MAN2B1,MAN2B1 EXON Missense_R140Q,Missense_R140Q exm1922355 19 12776338 [T/G] NM_001173498,NM_000528 MAN2B1,MAN2B1 EXON Synonymous_I88I,Synonymous_I88I exm1431160 19 12776574 [C/G] NM_001173498,NM_000528 MAN2B1,MAN2B1 EXON Missense_P69A,Missense_P69A exm1431171 19 12779373 [T/C] NR_029375,NM_001099737,NM_016145 WDR83,WDR83,WDR83OS EXON Silent,Silent,Missense_R72Q exm1431177 19 12780193 [A/G] NR_029375,NM_001099737,NM_016145 WDR83,WDR83,WDR83OS EXON Silent,Silent,Missense_P9S exm1431178 19 12780204 [T/C] NR_029375,NM_001099737,NM_016145 WDR83,WDR83,WDR83OS EXON Silent,Silent,Missense_N5S exm1431201 19 12781514 [A/G] NR_029375,NM_001099737,NM_032332 WDR83,WDR83,WDR83 EXON Silent,Missense_I129V,Missense_I129V exm1431205 19 12781550 [C/G] NR_029375,NM_001099737,NM_032332 WDR83,WDR83,WDR83 EXON Silent,Missense_R141G,Missense_R141G exm1431226 19 12786370 [A/G] NR_029375,NM_001099737,NM_032332 WDR83,WDR83,WDR83 EXON Silent,Missense_G278S,Missense_G278S exm1922397 19 12786401 [T/C] NR_029375,NM_001099737,NM_032332 WDR83,WDR83,WDR83 EXON Silent,Missense_T288I,Missense_T288I exm1431230 19 12786421 [A/G] NR_029375,NM_001099737,NM_032332 WDR83,WDR83,WDR83 EXON Silent,Missense_A295T,Missense_A295T exm1431238 19 12786660 [T/C] NM_001930,NM_013406,NR_038192,NM_001206974 DHPS,DHPS,DHPS,DHPS EXON Missense_E368K,Missense_E321K,Silent,Missense_E326K exm1431242 19 12786740 [C/G] NM_001930,NM_013406,NR_038192,NM_001206974 DHPS,DHPS,DHPS,DHPS EXON Missense_A341G,Missense_A294G,Silent,Missense_A299G exm1431244 19 12786830 [T/C] NM_001930,NM_013406,NR_038192,NM_001206974 DHPS,DHPS,DHPS,DHPS Silent,Silent,Silent,Silent exm1431245 19 12786836 [T/C] NM_001930,NM_013406,NR_038192,NM_001206974 DHPS,DHPS,DHPS,DHPS EXON Missense_V337I,Missense_V290I,Silent,Missense_V295I exm2228347 19 12786851 [A/C] NM_001930,NM_013406,NR_038192,NM_001206974 DHPS,DHPS,DHPS,DHPS EXON Missense_V332L,Missense_V285L,Silent,Missense_V290L exm1431268 19 12790506 [C/G] NM_001930,NM_013406,NR_038192,NM_001206974 DHPS,DHPS,DHPS,DHPS EXON Missense_E174D,Missense_E174D,Silent,Missense_E132D exm1431286 19 12791136 [T/C] NM_001930,NM_013406,NR_038192,NM_001206974 DHPS,DHPS,DHPS,DHPS EXON Missense_E71K,Missense_E71K,Silent,Missense_E29K exm1431290 19 12792381 [T/C] NM_001930,NM_013406,NR_038192 DHPS,DHPS,DHPS EXON Missense_N67S,Missense_N67S,Silent exm1431291 19 12792390 [T/C] NM_001930,NM_013406,NR_038192 DHPS,DHPS,DHPS EXON Missense_Q64R,Missense_Q64R,Silent exm1431315 19 12800212 [A/G] NM_032301 FBXW9 EXON Nonsense_R426X exm1431319 19 12800396 [T/C] NM_032301 FBXW9 EXON Missense_V399M exm1431321 19 12800595 [T/C] NM_032301 FBXW9 EXON Missense_G376S exm1431323 19 12800597 [T/C] NM_032301 FBXW9 EXON Missense_N375S exm1431331 19 12800864 [A/G] NM_032301 FBXW9 EXON Missense_A315V exm1431338 19 12802009 [T/C] NM_032301 FBXW9 EXON Missense_D285G exm1431344 19 12802246 [G/C] NM_032301 FBXW9 EXON Missense_A234G exm1431346 19 12805424 [T/C] NM_032301 FBXW9 EXON Missense_R221Q exm1431347 19 12805431 [T/C] NM_032301 FBXW9 EXON Missense_T219A exm1431357 19 12805645 [A/C] NM_032301 FBXW9 EXON Missense_V173L exm1431362 19 12805739 [G/C] NM_032301 FBXW9 EXON Missense_D141E exm1431372 19 12807187 [T/C] NM_032301 FBXW9 EXON Missense_R70K exm1431375 19 12807236 [A/G] NM_032301 FBXW9 EXON Missense_S54P exm1922457 19 12812200 [A/G] NM_001136195,NM_013433,NM_001136196 TNPO2,TNPO2,TNPO2 EXON Missense_P875L,Missense_P875L,Missense_P885L exm1431394 19 12812982 [A/G] NM_001136195,NM_013433,NM_001136196 TNPO2,TNPO2,TNPO2 EXON Silent,Silent,Missense_T772M exm1431403 19 12814529 [A/G] NM_001136195,NM_013433,NM_001136196 TNPO2,TNPO2,TNPO2 EXON Synonymous_I703I,Synonymous_I703I,Synonymous_I703I exm1431474 19 12848333 [T/G] NM_004317 ASNA1 EXON Missense_V5G exm1431476 19 12848342 [T/G] NM_004317 ASNA1 EXON Missense_W8L exm1431486 19 12856216 [G/C] NM_004317 ASNA1 EXON Missense_A112G exm1431508 19 12858347 [A/G] NM_004317 ASNA1 EXON Missense_E286K exm1431523 19 12863429 [A/G] NM_017682 BEST2 EXON Missense_R8Q exm1431529 19 12864100 [A/G] NM_017682 BEST2 EXON Missense_R60H exm1431544 19 12865539 [T/C] NM_017682 BEST2 EXON Missense_R141C exm1431553 19 12865590 [A/G] NM_017682 BEST2 EXON Missense_V158M exm1431583 19 12867073 [A/G] NM_017682 BEST2 EXON Missense_R356Q exm1431585 19 12867109 [T/C] NM_017682 BEST2 EXON Missense_T368M exm2228353 19 12868520 [A/G] NM_017682 BEST2 EXON Missense_G387R exm1431588 19 12868550 [T/C] NM_017682 BEST2 EXON Missense_L397F exm1431597 19 12868805 [A/G] NM_017682 BEST2 EXON Missense_S482G exm1431599 19 12868839 [G/C] NM_017682 BEST2 EXON Missense_A493G exm1431606 19 12874151 [T/C] NM_001100176,NM_013312 HOOK2,HOOK2 EXON Missense_R700H,Missense_R702H exm1431609 19 12874193 [T/G] NM_001100176,NM_013312 HOOK2,HOOK2 EXON Missense_Q686P,Missense_Q688P exm1431612 19 12874208 [A/G] NM_001100176,NM_013312 HOOK2,HOOK2 EXON Missense_A681V,Missense_A683V exm1431614 19 12874226 [T/C] NM_001100176,NM_013312 HOOK2,HOOK2 EXON Missense_R675Q,Missense_R677Q exm1431618 19 12874383 [T/C] NM_001100176,NM_013312 HOOK2,HOOK2 EXON Missense_E655K,Missense_E657K exm1431619 19 12874385 [T/C] NM_001100176,NM_013312 HOOK2,HOOK2 EXON Missense_R654Q,Missense_R656Q exm1431638 19 12876511 [T/C] NM_001100176,NM_013312 HOOK2,HOOK2 EXON Missense_E543K,Missense_E545K exm1431646 19 12876759 [G/C] NM_001100176,NM_013312 HOOK2,HOOK2 EXON Missense_Q527H,Missense_Q527H exm1431663 19 12878669 [A/G] NM_001100176,NM_013312 HOOK2,HOOK2 EXON Missense_R422C,Missense_R422C exm1431667 19 12878701 [T/C] NM_001100176,NM_013312 HOOK2,HOOK2 EXON Missense_R411Q,Missense_R411Q exm1431681 19 12881746 [T/C] NM_001100176,NM_013312 HOOK2,HOOK2 EXON Missense_R301Q,Missense_R301Q exm1431685 19 12881827 [A/G] NM_001100176,NM_013312 HOOK2,HOOK2 EXON Missense_A274V,Missense_A274V exm1431686 19 12881869 [T/C] NM_001100176,NM_013312 HOOK2,HOOK2 EXON Missense_E260G,Missense_E260G exm1431693 19 12882099 [A/G] NM_001100176,NM_013312 HOOK2,HOOK2 EXON Missense_A212V,Missense_A212V exm1431697 19 12882257 [T/C] NM_001100176,NM_013312 HOOK2,HOOK2 EXON Missense_E185G,Missense_E185G exm1431701 19 12883020 [T/C] NM_001100176,NM_013312 HOOK2,HOOK2 EXON Missense_G168D,Missense_G168D exm1431702 19 12883026 [A/G] NM_001100176,NM_013312 HOOK2,HOOK2 EXON Missense_T166M,Missense_T166M exm1431703 19 12883048 [A/G] NM_001100176,NM_013312 HOOK2,HOOK2 EXON Missense_P159S,Missense_P159S exm1431709 19 12883473 [A/G] NM_001100176,NM_013312 HOOK2,HOOK2 EXON Missense_T137M,Missense_T137M exm1431715 19 12885494 [A/C] NM_001100176,NM_013312 HOOK2,HOOK2 EXON Missense_W65G,Missense_W65G exm1431729 19 12902728 [A/G] NM_002229 JUNB EXON Missense_R48Q exm1431731 19 12902784 [A/G] NM_002229 JUNB EXON Missense_S67G exm1431736 19 12902941 [A/G] NM_002229 JUNB EXON Missense_G119E exm1431763 19 12910725 [A/C] NM_005809 PRDX2 EXON Missense_D153E exm1431775 19 12911043 [A/G] NM_005809 PRDX2 EXON Missense_R110C exm1431781 19 12911105 [T/G] NM_005809 PRDX2 EXON Missense_T89N exm1431784 19 12911579 [T/C] NM_005809,NM_181738 PRDX2,PRDX2 EXON Silent,Missense_M136I exm1431785 19 12911709 [T/C] NM_005809,NM_181738 PRDX2,PRDX2 EXON Silent,Missense_R93K exm1431809 19 12918142 [G/C] NM_006397 RNASEH2A EXON Missense_R108G exm1431812 19 12918237 [A/C] NM_006397 RNASEH2A EXON Missense_K110Q exm1431814 19 12918283 [T/C] NM_006397 RNASEH2A EXON Missense_I125T exm1431817 19 12920886 [T/G] NM_006397 RNASEH2A EXON Missense_V138G exm1431828 19 12921186 [T/C] NM_006397 RNASEH2A EXON Missense_L202S exm1431829 19 12921196 [T/A] NM_006397 RNASEH2A EXON Missense_D205E exm1431830 19 12923921 [A/G] NM_006397 RNASEH2A EXON Missense_K221R exm1431838 19 12924017 [T/C] NM_006397 RNASEH2A EXON Missense_I253T exm1431858 19 12936617 [G/C] NM_001270441,NM_001270444,NM_031429,NM_001270443,NM_001270440,NM_001270445,NM_001270442,NM_001080997 RTBDN,RTBDN,RTBDN,RTBDN,RTBDN,RTBDN,RTBDN,RTBDN EXON Missense_G208A,Missense_G198A,Missense_G230A,Missense_G198A,Silent,Missense_G192A,Missense_G204A,Missense_G198A exm1431859 19 12936693 [T/C] NM_001270441,NM_001270444,NM_031429,NM_001270443,NM_001270440,NM_001270445,NM_001270442,NM_001080997 RTBDN,RTBDN,RTBDN,RTBDN,RTBDN,RTBDN,RTBDN,RTBDN EXON Missense_V183M,Missense_V173M,Missense_V205M,Missense_V173M,Silent,Missense_V167M,Missense_V179M,Missense_V173M exm1431864 19 12937665 [T/C] NM_001270441,NM_001270444,NM_031429,NM_001270443,NM_001270440,NM_001270445,NM_001270442,NM_001080997 RTBDN,RTBDN,RTBDN,RTBDN,RTBDN,RTBDN,RTBDN,RTBDN EXON Missense_D139G,Missense_D129G,Missense_D161G,Missense_D129G,Missense_D161G,Missense_D123G,Missense_D135G,Missense_D129G exm1431869 19 12939507 [T/C] NM_001270441,NM_001270444,NM_031429,NM_001270443,NM_001270440,NM_001270445,NM_001270442,NM_001080997 RTBDN,RTBDN,RTBDN,RTBDN,RTBDN,RTBDN,RTBDN,RTBDN EXON Missense_Q120R,Missense_Q110R,Missense_Q142R,Missense_Q110R,Missense_Q142R,Missense_Q104R,Missense_Q116R,Missense_Q110R exm1431871 19 12939525 [T/C] NM_001270441,NM_001270444,NM_031429,NM_001270443,NM_001270440,NM_001270445,NM_001270442,NM_001080997 RTBDN,RTBDN,RTBDN,RTBDN,RTBDN,RTBDN,RTBDN,RTBDN EXON Missense_R114Q,Missense_R104Q,Missense_R136Q,Missense_R104Q,Missense_R136Q,Missense_R98Q,Missense_R110Q,Missense_R104Q exm1922670 19 12939704 [A/C] NM_001270441,NM_001270444,NM_031429,NM_001270443,NM_001270440,NM_001270445,NM_001270442,NM_001080997 RTBDN,RTBDN,RTBDN,RTBDN,RTBDN,RTBDN,RTBDN,RTBDN EXON Missense_R88L,Missense_R78L,Missense_R110L,Missense_R78L,Missense_R110L,Missense_R72L,Missense_R84L,Missense_R78L exm1431891 19 12945599 [T/C] NM_031429,NM_001270440 RTBDN,RTBDN EXON Synonymous_E26E,Synonymous_E26E exm1431894 19 12945652 [C/G] NM_031429,NM_001270440 RTBDN,RTBDN EXON Missense_L9V,Missense_L9V exm1431908 19 12954416 [A/G] NM_014975 MAST1 EXON Missense_V108I exm1431931 19 12963143 [T/C] NM_014975 MAST1 EXON Synonymous_D337D exm2253639 19 12978673 [A/G] NM_014975 MAST1 EXON Synonymous_E816E exm2275042 19 12979885 [T/C] NM_014975 MAST1 EXON Missense_P927S exm1431984 19 12980000 [A/G] NM_014975 MAST1 EXON Missense_R965H exm1431993 19 12981865 [T/G] NM_014975 MAST1 EXON Missense_A1048S exm1432009 19 12984551 [A/G] NM_014975 MAST1 EXON Missense_A1194T exm1432023 19 12985002 [A/C] NM_014975 MAST1 EXON Missense_P1344Q exm1432053 19 12986892 [T/G] NM_001375 DNASE2 EXON Missense_A332D exm1922759 19 12989289 [T/C] NM_001375 DNASE2 EXON Missense_V206I exm1432075 19 12989330 [T/G] NM_001375 DNASE2 EXON Missense_Q192P exm1432086 19 12991842 [A/G] NM_001375 DNASE2 EXON Missense_P71S exm1432088 19 12991919 [C/G] NM_001375 DNASE2 EXON Missense_A45G exm1432097 19 12995762 [G/C] NM_006563 KLF1 EXON Missense_Q342H exm1432135 19 12997936 [T/C] NM_006563 KLF1 EXON Missense_A7T exm-rs11085824 19 13001547 [A/G] exm1432148 19 13002779 [T/C] NM_013976,NM_000159 GCDH,GCDH EXON Missense_R88C,Missense_R88C exm1432159 19 13004390 [T/C] NM_013976,NM_000159 GCDH,GCDH EXON Missense_V143A,Missense_V143A exm1432178 19 13007748 [A/G] NM_013976,NM_000159 GCDH,GCDH EXON Missense_A293T,Missense_A293T exm1432190 19 13008519 [A/C] NM_013976,NM_000159 GCDH,GCDH EXON Missense_A362D,Missense_A362D exm1432200 19 13008638 [T/C] NM_013976,NM_000159 GCDH,GCDH EXON Missense_R402W,Missense_R402W exm1432201 19 13008644 [A/G] NM_013976,NM_000159 GCDH,GCDH EXON Missense_A404T,Missense_A404T exm1432202 19 13008647 [A/G] NM_013976,NM_000159 GCDH,GCDH EXON Missense_M405V,Missense_M405V exm1432204 19 13008674 [A/G] NM_013976,NM_000159 GCDH,GCDH EXON Missense_E414K,Missense_E414K exm1432211 19 13010299 [A/G] NM_013976,NM_000159,NM_001105578 GCDH,GCDH,SYCE2 EXON Silent,Missense_A421T,Silent exm1432216 19 13010516 [A/G] NM_013976,NM_000159,NM_001105578 GCDH,GCDH,SYCE2 EXON Missense_V416I,Silent,Silent exm1432217 19 13010520 [A/G] NM_013976,NM_000159,NM_001105578 GCDH,GCDH,SYCE2 EXON Missense_Q417R,Silent,Silent exm1432221 19 13010874 [T/C] NM_001105578 SYCE2 EXON Missense_G186S exm1432224 19 13010891 [T/G] NM_001105578 SYCE2 EXON Missense_K180T exm1922811 19 13010934 [C/G] NM_001105578 SYCE2 EXON Missense_Q166E exm1432234 19 13015347 [A/G] NM_001105578 SYCE2 EXON Missense_H89Y exm1432237 19 13015399 [A/C] NM_001105578 SYCE2 EXON Missense_Q71H exm1432240 19 13015463 [A/G] NM_001105578 SYCE2 EXON Missense_T50M exm1432253 19 13033677 [A/G] NM_004461 FARSA EXON Missense_I471T exm1432268 19 13035522 [A/C] NM_004461 FARSA EXON Missense_V376L exm1432274 19 13035722 [T/C] NM_004461 FARSA EXON Missense_Q341R exm1432275 19 13035732 [A/G] NM_004461 FARSA EXON Missense_R338C exm1432281 19 13035797 [A/G] NM_004461 FARSA EXON Missense_L316P exm1432283 19 13035914 [T/C] NM_004461 FARSA EXON Missense_G306S exm2228365 19 13035920 [T/C] NM_004461 FARSA EXON Missense_G304S exm1432299 19 13039461 [A/G] NM_004461 FARSA EXON Missense_R205W exm1432302 19 13039642 [C/G] NM_004461 FARSA EXON Missense_V175L exm1432308 19 13041106 [A/C] NM_004461 FARSA EXON Missense_G145V exm1432309 19 13041107 [C/G] NM_004461 FARSA EXON Missense_G145R exm1432310 19 13041109 [T/C] NM_004461 FARSA EXON Missense_R144Q exm1432312 19 13041124 [T/C] NM_004461 FARSA EXON Missense_R139Q exm1432313 19 13041131 [T/G] NM_004461 FARSA EXON Missense_Q137K exm1432317 19 13041287 [A/G] NM_004461 FARSA EXON Missense_R114W exm1432322 19 13041442 [A/G] NM_004461 FARSA EXON Missense_A90V exm1922862 19 13049948 [A/G] NM_004343 CALR EXON Missense_D31G exm1432341 19 13050026 [A/G] NM_004343 CALR EXON Missense_Y57C exm1432353 19 13051058 [A/G] NM_004343 CALR EXON Missense_D165G exm1432356 19 13051130 [C/G] NM_004343 CALR EXON Missense_S189T exm1432361 19 13051211 [T/C] NM_004343 CALR EXON Missense_P216L exm1432364 19 13051246 [T/C] NM_004343 CALR EXON Missense_P228S exm1432388 19 13054612 [A/G] NM_004343 CALR EXON Missense_E380G exm1432389 19 13054615 [A/C] NM_004343 CALR EXON Missense_E381A exm1432395 19 13054665 [A/G] NM_004343 CALR EXON Missense_E398K exm1432409 19 13059006 [G/C] NM_001270362,NR_072976,NM_001270363,NM_005053 RAD23A,RAD23A,RAD23A,RAD23A EXON Missense_G84R,Silent,Missense_G84R,Missense_G84R exm1432416 19 13059147 [A/G] NM_001270362,NR_072976,NM_001270363,NM_005053 RAD23A,RAD23A,RAD23A,RAD23A EXON Missense_T131A,Silent,Missense_T131A,Missense_T131A exm1432417 19 13059148 [A/C] NM_001270362,NR_072976,NM_001270363,NM_005053 RAD23A,RAD23A,RAD23A,RAD23A EXON Missense_T131K,Silent,Missense_T131K,Missense_T131K exm1432423 19 13059557 [A/G] NM_001270362,NR_072976,NM_001270363,NM_005053 RAD23A,RAD23A,RAD23A,RAD23A EXON Missense_R177Q,Silent,Missense_R177Q,Missense_R177Q exm1432424 19 13059563 [A/G] NM_001270362,NR_072976,NM_001270363,NM_005053 RAD23A,RAD23A,RAD23A,RAD23A EXON Missense_R179Q,Silent,Missense_R179Q,Missense_R179Q exm1432426 19 13059626 [T/C] NM_001270362,NR_072976,NM_001270363,NM_005053 RAD23A,RAD23A,RAD23A,RAD23A EXON Missense_T200M,Silent,Missense_T200M,Missense_T200M exm2228368 19 13059949 [T/C] NM_001270362,NR_072976,NM_001270363,NM_005053 RAD23A,RAD23A,RAD23A,RAD23A EXON Missense_S219P,Silent,Missense_S219P,Missense_S219P exm1432432 19 13059965 [T/C] NM_001270362,NR_072976,NM_001270363,NM_005053 RAD23A,RAD23A,RAD23A,RAD23A EXON Missense_T224M,Silent,Missense_T224M,Missense_T224M exm1432433 19 13060143 [A/G] NM_001270362,NR_072976,NM_001270363,NM_005053 RAD23A,RAD23A,RAD23A,RAD23A EXON Missense_R244Q,Silent,Missense_R245Q,Missense_R245Q exm1432446 19 13065087 [A/G] NM_052850 GADD45GIP1 EXON Nonsense_R202X exm1432447 19 13065096 [T/C] NM_052850 GADD45GIP1 EXON Missense_K199E exm1922916 19 13065125 [T/C] NM_052850 GADD45GIP1 EXON Missense_R189H exm1432458 19 13065311 [T/C] NM_052850 GADD45GIP1 EXON Missense_K127R exm2253641 19 13080720 [T/C] NM_152654 DAND5 EXON Synonymous_D82D exm1432493 19 13080737 [C/G] NM_152654 DAND5 EXON Missense_T88S exm1432497 19 13080776 [A/G] NM_152654 DAND5 EXON Missense_C101Y exm1432505 19 13084333 [A/G] NM_152654 DAND5 EXON Missense_R152H exm1432508 19 13084389 [T/C] NM_152654 DAND5 EXON Nonsense_R171X exm2228369 19 13135977 [A/T] NM_002501,NM_001271044,NM_001271043 NFIX,NFIX,NFIX EXON Missense_K57M,Missense_K49M,Missense_K65M exm2228370 19 13135981 [A/C] NM_002501,NM_001271044,NM_001271043 NFIX,NFIX,NFIX EXON Missense_D58E,Missense_D50E,Missense_D66E exm1432561 19 13211515 [T/C] NM_005583 LYL1 EXON Missense_R128Q exm1432563 19 13211521 [T/C] NM_005583 LYL1 EXON Missense_S126N exm1432581 19 13211843 [T/C] NM_005583 LYL1 EXON Missense_R48Q exm1432587 19 13215787 [C/G] NM_001142554,NM_017722,NM_001136035 TRMT1,TRMT1,TRMT1 EXON Missense_P619A,Missense_P648A,Missense_P648A exm1432602 19 13216115 [T/C] NM_001142554,NM_017722,NM_001136035 TRMT1,TRMT1,TRMT1 EXON Missense_R571Q,Missense_R600Q,Missense_R600Q exm1432603 19 13216130 [G/C] NM_001142554,NM_017722,NM_001136035 TRMT1,TRMT1,TRMT1 EXON Missense_A566G,Missense_A595G,Missense_A595G exm1432604 19 13216136 [T/C] NM_001142554,NM_017722,NM_001136035 TRMT1,TRMT1,TRMT1 EXON Missense_D564G,Missense_D593G,Missense_D593G exm1432621 19 13218456 [A/T] NM_001142554,NM_017722,NM_001136035 TRMT1,TRMT1,TRMT1 EXON Missense_E476D,Missense_E505D,Missense_E505D exm1432629 19 13220196 [A/G] NM_001142554,NM_017722,NM_001136035 TRMT1,TRMT1,TRMT1 EXON Missense_R437W,Missense_R466W,Missense_R466W exm1432652 19 13220733 [T/C] NM_001142554,NM_017722,NM_001136035 TRMT1,TRMT1,TRMT1 EXON Silent,Missense_G368S,Missense_G368S exm1432669 19 13221086 [T/C] NM_001142554,NM_017722,NM_001136035 TRMT1,TRMT1,TRMT1 EXON Missense_R302H,Missense_R302H,Missense_R302H exm1432673 19 13223535 [T/C] NM_001142554,NM_017722,NM_001136035 TRMT1,TRMT1,TRMT1 EXON Missense_R285Q,Missense_R285Q,Missense_R285Q exm1432688 19 13226150 [T/C] NM_001142554,NM_017722,NM_001136035 TRMT1,TRMT1,TRMT1 EXON Missense_R195Q,Missense_R195Q,Missense_R195Q exm1432689 19 13226154 [A/G] NM_001142554,NM_017722,NM_001136035 TRMT1,TRMT1,TRMT1 EXON Missense_R194C,Missense_R194C,Missense_R194C exm1432698 19 13226550 [T/C] NM_001142554,NM_017722,NM_001136035 TRMT1,TRMT1,TRMT1 EXON Missense_V115M,Missense_V115M,Missense_V115M exm1432707 19 13227005 [T/C] NM_001142554,NM_017722,NM_001136035 TRMT1,TRMT1,TRMT1 EXON Missense_N70S,Missense_N70S,Missense_N70S exm1432711 19 13227089 [T/C] NM_001142554,NM_017722,NM_001136035 TRMT1,TRMT1,TRMT1 EXON Missense_G42E,Missense_G42E,Missense_G42E exm1432736 19 13246502 [T/C] NM_052876 NACC1 EXON Missense_P161S exm1432738 19 13246565 [A/G] NM_052876 NACC1 EXON Missense_A182T exm1432779 19 13249098 [A/G] NM_052876 NACC1 EXON Missense_A488T exm1432780 19 13249133 [A/C] NM_052876 NACC1 EXON Synonymous_I499I exm2276610 19 13249173 [A/G] NM_052876 NACC1 EXON Missense_A513T exm1432789 19 13255390 [A/C] NM_001271609,NM_001271611,NM_003765,NM_001271610 STX10,STX10,STX10,STX10 EXON Silent,Silent,Silent,Missense_G225V exm1432799 19 13255588 [T/C] NM_001271609,NM_001271611,NM_003765,NM_001271610 STX10,STX10,STX10,STX10 EXON Missense_E190K,Missense_E141K,Missense_E190K,Missense_E190K exm1432802 19 13255608 [T/C] NM_001271609,NM_001271611,NM_003765,NM_001271610 STX10,STX10,STX10,STX10 EXON Missense_R183H,Missense_R134H,Missense_R183H,Missense_R183H exm1432806 19 13255654 [A/C] NM_001271609,NM_001271611,NM_003765,NM_001271610 STX10,STX10,STX10,STX10 EXON Nonsense_E168X,Nonsense_E119X,Nonsense_E168X,Nonsense_E168X exm1432838 19 13264338 [T/C] NM_004907 IER2 EXON Missense_P113L exm1432840 19 13264398 [T/C] NM_004907 IER2 EXON Missense_A133V exm1432879 19 13318811 [T/C] NM_000068,NM_001174080,NM_001127221,NM_023035,NM_001127222 CACNA1A,CACNA1A,CACNA1A,CACNA1A,CACNA1A EXON Silent,Silent,Silent,Missense_A2284T,Synonymous_P2279P exm1432906 19 13320274 [A/G] NM_000068,NM_001174080,NM_001127221,NM_023035,NM_001127222 CACNA1A,CACNA1A,CACNA1A,CACNA1A,CACNA1A EXON Missense_R2131C,Missense_R2128C,Synonymous_S2127S,Missense_R2131C,Synonymous_S2126S exm1432914 19 13322955 [T/G] NM_000068,NM_001174080,NM_001127221,NM_023035,NM_001127222 CACNA1A,CACNA1A,CACNA1A,CACNA1A,CACNA1A EXON Missense_P2093Q,Missense_P2090Q,Synonymous_R2090R,Missense_P2093Q,Synonymous_R2089R exm1432921 19 13323261 [T/C] NM_000068,NM_001174080,NM_001127221,NM_023035,NM_001127222 CACNA1A,CACNA1A,CACNA1A,CACNA1A,CACNA1A EXON Missense_G2047R,Missense_G2044R,Synonymous_T2043T,Missense_G2047R,Synonymous_T2042T exm1432924 19 13323326 [T/C] NM_000068,NM_001174080,NM_001127221,NM_023035,NM_001127222 CACNA1A,CACNA1A,CACNA1A,CACNA1A,CACNA1A EXON Missense_R2025Q,Missense_R2022Q,Missense_E2022K,Missense_R2025Q,Missense_E2021K exm1432932 19 13325090 [T/C] NM_000068,NM_001174080,NM_001127221,NM_023035,NM_001127222 CACNA1A,CACNA1A,CACNA1A,CACNA1A,CACNA1A EXON Synonymous_P1970P,Synonymous_P1967P,Missense_R1967Q,Synonymous_P1970P,Missense_R1966Q exm1432939 19 13325415 [A/G] NM_000068,NM_001174080,NM_001127221,NM_023035,NM_001127222 CACNA1A,CACNA1A,CACNA1A,CACNA1A,CACNA1A EXON Nonsense_R1918X,Nonsense_R1915X,Synonymous_A1914A,Nonsense_R1918X,Synonymous_A1913A exm1432942 19 13335562 [T/C] NM_000068,NM_001174080,NM_001127221,NM_023035,NM_001127222 CACNA1A,CACNA1A,CACNA1A,CACNA1A,CACNA1A EXON Missense_R1888H,Missense_R1885H,Missense_V1885I,Missense_R1888H,Missense_V1884I exm1432943 19 13335563 [C/G] NM_000068,NM_001174080,NM_001127221,NM_023035,NM_001127222 CACNA1A,CACNA1A,CACNA1A,CACNA1A,CACNA1A EXON Missense_R1888G,Missense_R1885G,Synonymous_P1884P,Missense_R1888G,Synonymous_P1883P exm1432944 19 13335580 [A/G] NM_000068,NM_001174080,NM_001127221,NM_023035,NM_001127222 CACNA1A,CACNA1A,CACNA1A,CACNA1A,CACNA1A EXON Missense_S1882F,Missense_S1879F,Synonymous_L1879L,Missense_S1882F,Synonymous_L1878L exm2272763 19 13336617 [T/C] NM_000068,NM_001174080,NM_001127221,NM_023035,NM_001127222 CACNA1A,CACNA1A,CACNA1A,CACNA1A,CACNA1A Silent,Silent,Silent,Silent,Silent exm1432953 19 13342665 [A/G] NM_000068,NM_001174080,NM_001127221,NM_023035,NM_001127222 CACNA1A,CACNA1A,CACNA1A,CACNA1A,CACNA1A EXON Missense_R1758W,Missense_R1755W,Synonymous_T1754T,Missense_R1758W,Synonymous_T1753T exm1432957 19 13345818 [A/G] NM_000068,NM_001174080,NM_001127221,NM_023035,NM_001127222 CACNA1A,CACNA1A,CACNA1A,CACNA1A,CACNA1A EXON Nonsense_R1727X,Nonsense_R1724X,Synonymous_D1723D,Nonsense_R1727X,Synonymous_D1722D exm1432997 19 13394081 [A/G] NM_000068,NM_001174080,NM_001127221,NM_023035,NM_001127222 CACNA1A,CACNA1A,CACNA1A,CACNA1A,CACNA1A EXON Synonymous_N1278N,Synonymous_N1275N,Synonymous_N1275N,Synonymous_N1278N,Synonymous_N1274N exm1433011 19 13397340 [C/G] NM_000068,NM_001174080,NM_001127221,NM_023035,NM_001127222 CACNA1A,CACNA1A,CACNA1A,CACNA1A,CACNA1A EXON Missense_P1181R,Missense_P1178R,Missense_P1178R,Missense_P1181R,Missense_P1177R exm1433014 19 13397413 [C/G] NM_000068,NM_001174080,NM_001127221,NM_023035,NM_001127222 CACNA1A,CACNA1A,CACNA1A,CACNA1A,CACNA1A EXON Missense_Q1157E,Missense_Q1154E,Missense_Q1154E,Missense_Q1157E,Missense_Q1153E exm1433021 19 13397515 [T/C] NM_000068,NM_001174080,NM_001127221,NM_023035,NM_001127222 CACNA1A,CACNA1A,CACNA1A,CACNA1A,CACNA1A EXON Missense_A1123T,Missense_A1120T,Missense_A1120T,Missense_A1123T,Missense_A1119T exm1433030 19 13397643 [A/G] NM_000068,NM_001174080,NM_001127221,NM_023035,NM_001127222 CACNA1A,CACNA1A,CACNA1A,CACNA1A,CACNA1A EXON Missense_A1080V,Missense_A1077V,Missense_A1077V,Missense_A1080V,Missense_A1076V exm1433032 19 13397703 [T/C] NM_000068,NM_001174080,NM_001127221,NM_023035,NM_001127222 CACNA1A,CACNA1A,CACNA1A,CACNA1A,CACNA1A EXON Missense_R1060H,Missense_R1057H,Missense_R1057H,Missense_R1060H,Missense_R1056H exm1433033 19 13397704 [A/G] NM_000068,NM_001174080,NM_001127221,NM_023035,NM_001127222 CACNA1A,CACNA1A,CACNA1A,CACNA1A,CACNA1A EXON Missense_R1060C,Missense_R1057C,Missense_R1057C,Missense_R1060C,Missense_R1056C exm1433042 19 13409407 [T/C] NM_000068,NM_001174080,NM_001127221,NM_023035,NM_001127222 CACNA1A,CACNA1A,CACNA1A,CACNA1A,CACNA1A EXON Missense_E1018K,Missense_E1015K,Missense_E1015K,Missense_E1018K,Missense_E1014K exm1433059 19 13409946 [T/G] NM_000068,NM_001174080,NM_001127221,NM_023035,NM_001127222 CACNA1A,CACNA1A,CACNA1A,CACNA1A,CACNA1A EXON Missense_N838T,Missense_N835T,Missense_N835T,Missense_N838T,Missense_N834T exm1433071 19 13411451 [T/G] NM_000068,NM_001174080,NM_001127221,NM_023035,NM_001127222 CACNA1A,CACNA1A,CACNA1A,CACNA1A,CACNA1A EXON Missense_E735A,Missense_E732A,Missense_E732A,Missense_E735A,Missense_E731A exm1433108 19 13428124 [T/C] NM_000068,NM_001174080,NM_001127221,NM_023035,NM_001127222 CACNA1A,CACNA1A,CACNA1A,CACNA1A,CACNA1A EXON Missense_A454T,Missense_A454T,Missense_A454T,Missense_A454T,Missense_A453T exm1433127 19 13476282 [A/G] NM_000068,NM_001174080,NM_001127221,NM_023035,NM_001127222 CACNA1A,CACNA1A,CACNA1A,CACNA1A,CACNA1A EXON Synonymous_S211S,Synonymous_S211S,Synonymous_S211S,Synonymous_S211S,Synonymous_S211S exm2272818 19 13519929 [T/G] NM_000068,NM_001174080,NM_001127221,NM_023035,NM_001127222 CACNA1A,CACNA1A,CACNA1A,CACNA1A,CACNA1A Silent,Silent,Silent,Silent,Silent exm2268181 19 13758270 [A/G] exm1433149 19 13865157 [A/G] NM_030818 CCDC130 Silent exm1433156 19 13868278 [A/G] NM_030818 CCDC130 EXON Missense_I63V exm1433160 19 13869687 [A/G] NM_030818 CCDC130 EXON Missense_R88Q exm1433163 19 13869713 [T/C] NM_030818 CCDC130 EXON Missense_Y97H exm1433172 19 13869786 [T/G] NM_030818 CCDC130 EXON Missense_R121L exm1433174 19 13869794 [A/G] NM_030818 CCDC130 EXON Missense_M124V exm1433179 19 13869925 [A/C] NM_030818 CCDC130 EXON Missense_K138Q exm1433190 19 13873137 [A/G] NM_030818 CCDC130 EXON Missense_E200K exm1923271 19 13873686 [A/C] NM_030818 CCDC130 EXON Missense_S332Y exm1433209 19 13873698 [C/G] NM_030818 CCDC130 EXON Missense_C336S exm1433213 19 13873793 [A/C] NM_030818 CCDC130 EXON Missense_Q368K exm1433214 19 13873818 [A/C] NM_030818 CCDC130 EXON Missense_T376K exm1433221 19 13875421 [T/C] NM_032285,NM_001031727 MRI1,MRI1 EXON Missense_R7C,Missense_R7C exm1433224 19 13875437 [T/C] NM_032285,NM_001031727 MRI1,MRI1 EXON Missense_S12F,Missense_S12F exm1433232 19 13875821 [T/G] NM_032285,NM_001031727 MRI1,MRI1 EXON Missense_R90L,Missense_R90L exm1433237 19 13876785 [A/G] NM_032285,NM_001031727 MRI1,MRI1 EXON Silent,Missense_E130G exm1433245 19 13876922 [A/G] NM_032285,NM_001031727 MRI1,MRI1 EXON Silent,Missense_A176T exm1433249 19 13879235 [A/G] NM_032285,NM_001031727 MRI1,MRI1 EXON Missense_R145Q,Silent exm1433251 19 13879261 [A/G] NM_032285,NM_001031727 MRI1,MRI1 EXON Missense_E154K,Silent exm1433254 19 13879405 [A/G] NM_032285,NM_001031727 MRI1,MRI1 EXON Silent,Missense_R193H exm1433256 19 13879449 [A/G] NM_032285,NM_001031727 MRI1,MRI1 EXON Missense_G161R,Missense_G208R exm1433259 19 13879530 [A/G] NM_032285,NM_001031727 MRI1,MRI1 EXON Missense_M188V,Missense_M235V exm1433273 19 13879776 [A/G] NM_032285,NM_001031727 MRI1,MRI1 EXON Missense_R241H,Missense_R288H exm1433275 19 13879781 [A/G] NM_032285,NM_001031727 MRI1,MRI1 EXON Missense_E243K,Missense_E290K exm1433276 19 13879832 [A/G] NM_032285,NM_001031727 MRI1,MRI1 EXON Missense_D260N,Missense_D307N exm1433278 19 13879848 [A/G] NM_032285,NM_001031727 MRI1,MRI1 EXON Missense_R265Q,Missense_R312Q exm1433287 19 13883034 [A/G] NM_032285,NM_001031727 MRI1,MRI1 EXON Missense_R303Q,Missense_R350Q exm1433302 19 13885484 [A/G] NM_014047 C19orf53 EXON Missense_K39R exm1433307 19 13888878 [A/G] NM_014047 C19orf53 EXON Missense_G56R exm1433308 19 13888887 [A/C] NM_014047 C19orf53 EXON Missense_K59Q exm1433311 19 13888901 [T/G] NM_014047 C19orf53 EXON Missense_H63Q exm1433313 19 13888905 [A/G] NM_014047 C19orf53 EXON Missense_V65M exm1433315 19 13888986 [T/G] NM_014047 C19orf53 EXON Missense_A92S exm1433340 19 13915630 [A/G] NM_023072 ZSWIM4 EXON Missense_R127H exm2253644 19 13915703 [A/G] NM_023072 ZSWIM4 EXON Synonymous_T151T exm1923345 19 13919738 [T/G] NM_023072 ZSWIM4 EXON Missense_Q267H exm1433361 19 13919761 [A/G] NM_023072 ZSWIM4 EXON Missense_Y275C exm1433381 19 13923903 [A/G] NM_023072 ZSWIM4 EXON Missense_D369N exm1433383 19 13923906 [A/G] NM_023072 ZSWIM4 EXON Missense_V370I exm2253645 19 13923956 [A/G] NM_023072 ZSWIM4 EXON Synonymous_Q386Q exm2253646 19 13928094 [T/C] NM_023072 ZSWIM4 EXON Synonymous_D415D exm1433393 19 13928140 [A/G] NM_023072 ZSWIM4 EXON Missense_E431K exm1433395 19 13928535 [G/C] NM_023072 ZSWIM4 Silent exm1433404 19 13930206 [T/C] NM_023072 ZSWIM4 EXON Missense_R537W exm1433408 19 13930270 [T/C] NM_023072 ZSWIM4 EXON Missense_P558L exm1923361 19 13930285 [A/G] NM_023072 ZSWIM4 EXON Missense_R563H exm1433419 19 13934296 [A/G] NM_023072 ZSWIM4 EXON Missense_M616V exm1433421 19 13936385 [T/C] NM_023072 ZSWIM4 EXON Missense_T629M exm1433422 19 13936407 [G/C] NM_023072 ZSWIM4 EXON Missense_Q636H exm1433436 19 13939511 [A/G] NM_023072 ZSWIM4 EXON Missense_R694H exm1433442 19 13941022 [A/C] NM_023072 ZSWIM4 EXON Missense_N710H exm1433448 19 13941099 [C/G] NM_023072 ZSWIM4 EXON Missense_H735Q exm1433464 19 13941643 [A/G] NM_023072 ZSWIM4 EXON Missense_D917N exm1923397 19 13988199 [T/C] NM_001098622 NANOS3 EXON Missense_L46P exm1433512 19 13988207 [A/G] NM_001098622 NANOS3 EXON Missense_M49V exm1433513 19 13988210 [T/C] NM_001098622 NANOS3 EXON Missense_P50S exm1433517 19 13988222 [T/C] NM_001098622 NANOS3 EXON Missense_S54P exm1433520 19 13988254 [C/G] NM_001098622 NANOS3 EXON Missense_K64N exm1433539 19 13993619 [A/C] NM_024323 C19orf57 EXON Missense_L637W exm1433540 19 13993643 [T/C] NM_024323 C19orf57 EXON Missense_R629Q exm1433543 19 13993709 [T/C] NM_024323 C19orf57 EXON Missense_R607Q exm1433550 19 13993764 [A/G] NM_024323 C19orf57 EXON Missense_R589W exm1433554 19 13996783 [A/G] NM_024323 C19orf57 EXON Missense_A585V exm1433555 19 13996808 [T/C] NM_024323 C19orf57 EXON Missense_G577R exm2228395 19 14000024 [T/C] NM_024323 C19orf57 EXON Missense_D549N exm1433564 19 14000170 [T/C] NM_024323 C19orf57 EXON Missense_Q500R exm1433565 19 14000171 [A/G] NM_024323 C19orf57 EXON Nonsense_Q500X exm1433570 19 14000196 [T/G] NM_024323 C19orf57 EXON Missense_D491E exm1433571 19 14000206 [A/G] NM_024323 C19orf57 EXON Missense_I488T exm1433579 19 14000273 [A/G] NM_024323 C19orf57 EXON Missense_L466F exm1433580 19 14000282 [A/C] NM_024323 C19orf57 EXON Missense_G463C exm1433584 19 14000344 [G/C] NM_024323 C19orf57 EXON Missense_T442R exm1433585 19 14000350 [A/G] NM_024323 C19orf57 EXON Missense_P440L exm1433596 19 14000503 [A/G] NM_024323 C19orf57 EXON Missense_S389L exm1433597 19 14000545 [A/G] NM_024323 C19orf57 EXON Missense_A375V exm1433611 19 14000870 [T/C] NM_024323 C19orf57 EXON Missense_G267R exm1433613 19 14000911 [T/C] NM_024323 C19orf57 EXON Missense_Q253R exm1433621 19 14001089 [T/G] NM_024323 C19orf57 EXON Missense_P194T exm1433627 19 14001175 [A/G] NM_024323 C19orf57 EXON Missense_T165M exm1433630 19 14001206 [A/G] NM_024323 C19orf57 EXON Missense_L155F exm1433632 19 14001241 [A/C] NM_024323 C19orf57 EXON Missense_G143V exm1433633 19 14001265 [A/G] NM_024323 C19orf57 EXON Missense_A135V exm1433635 19 14003609 [T/G] NM_024323 C19orf57 EXON Missense_A128D exm1433636 19 14003622 [A/G] NM_024323 C19orf57 EXON Missense_R124C exm1433638 19 14003969 [C/G] NM_024323 C19orf57 EXON Missense_L92V exm1433641 19 14006195 [T/C] NM_024323 C19orf57 EXON Missense_A66T exm1433647 19 14006300 [A/C] NM_024323 C19orf57 EXON Missense_D31Y exm1433650 19 14015676 [T/C] NM_024323 C19orf57 EXON Synonymous_S10S exm1923447 19 14015683 [T/C] NM_024323 C19orf57 EXON Missense_R8Q exm1433668 19 14023342 [T/C] NM_017721 CC2D1A EXON Missense_A105V exm1923455 19 14024062 [A/G] NM_017721 CC2D1A EXON Missense_A154T exm1433679 19 14024269 [T/C] NM_017721 CC2D1A EXON Missense_A189V exm1433691 19 14024401 [T/C] NM_017721 CC2D1A EXON Missense_A233V exm1433699 19 14029348 [A/G] NM_017721 CC2D1A EXON Missense_R302Q exm1433704 19 14029592 [T/C] NM_017721 CC2D1A EXON Missense_S327L exm1433706 19 14029609 [A/G] NM_017721 CC2D1A EXON Missense_A333T exm1433712 19 14029801 [T/G] NM_017721 CC2D1A EXON Missense_Q365H exm1433717 19 14029985 [A/G] NM_017721 CC2D1A EXON Missense_V398M exm1433720 19 14030642 [A/G] NM_017721 CC2D1A EXON Missense_I412V exm1433722 19 14030753 [A/G] NM_017721 CC2D1A EXON Missense_V449M exm1433724 19 14031368 [A/C] NM_017721 CC2D1A Silent exm1433730 19 14031437 [T/C] NM_017721 CC2D1A EXON Missense_S475L exm1433731 19 14031455 [T/C] NM_017721 CC2D1A EXON Missense_A481V exm1433738 19 14031643 [A/G] NM_017721 CC2D1A EXON Missense_V517M exm1433741 19 14031685 [A/G] NM_017721 CC2D1A EXON Missense_E531K exm1433746 19 14031728 [T/C] NM_017721 CC2D1A EXON Missense_I545T exm1433752 19 14034227 [T/C] NM_017721 CC2D1A EXON Missense_R575C exm1433754 19 14034243 [T/C] NM_017721 CC2D1A EXON Missense_T580I exm1433769 19 14037361 [G/C] NM_017721 CC2D1A EXON Missense_L658V exm1433775 19 14037513 [A/G] NM_017721 CC2D1A EXON Missense_R683Q exm1433776 19 14037530 [A/C] NM_017721 CC2D1A EXON Missense_P689T exm2228397 19 14038025 [A/C] NM_017721 CC2D1A EXON Missense_Q755K exm1923508 19 14038731 [A/G] NM_017721 CC2D1A EXON Missense_G781E exm1433798 19 14038755 [A/G] NM_017721 CC2D1A EXON Missense_R789Q exm1433799 19 14038761 [A/G] NM_017721 CC2D1A EXON Missense_R791Q exm1433800 19 14038791 [T/C] NM_017721 CC2D1A EXON Missense_T801M exm1433802 19 14038819 [C/G] NM_017721 CC2D1A EXON Missense_D810E exm1433804 19 14038829 [T/G] NM_017721 CC2D1A EXON Missense_A814S exm1433806 19 14038842 [T/C] NM_017721 CC2D1A EXON Missense_T818I exm1433808 19 14038962 [T/C] NM_017721 CC2D1A EXON Missense_A827V exm1433810 19 14038977 [C/G] NM_017721 CC2D1A EXON Missense_A832G exm1433812 19 14038990 [G/C] NM_017721 CC2D1A EXON Missense_E836D exm1433826 19 14040420 [A/G] NM_017721 CC2D1A EXON Missense_R886H exm1433831 19 14040896 [A/G] NM_017721 CC2D1A EXON Missense_A906T exm1433833 19 14040911 [C/G] NM_017721 CC2D1A EXON Missense_R911G exm1433834 19 14040917 [G/C] NM_017721 CC2D1A EXON Missense_L913V exm1433837 19 14040944 [T/C] NM_017721 CC2D1A EXON Missense_R922C exm1433845 19 14043544 [T/C] NM_001146255,NM_024825,NM_001146254 PODNL1,PODNL1,PODNL1 EXON Missense_V414I,Missense_V505I,Missense_V503I exm1433851 19 14043629 [A/C] NM_001146255,NM_024825,NM_001146254 PODNL1,PODNL1,PODNL1 EXON Missense_H385Q,Missense_H476Q,Missense_H474Q exm1433859 19 14043732 [T/C] NM_001146255,NM_024825,NM_001146254 PODNL1,PODNL1,PODNL1 EXON Missense_R351Q,Missense_R442Q,Missense_R440Q exm1433861 19 14043745 [A/G] NM_001146255,NM_024825,NM_001146254 PODNL1,PODNL1,PODNL1 EXON Missense_R347C,Missense_R438C,Missense_R436C exm1433870 19 14043843 [T/C] NM_001146255,NM_024825,NM_001146254 PODNL1,PODNL1,PODNL1 EXON Missense_R314H,Missense_R405H,Missense_R403H exm1433873 19 14043853 [A/G] NM_001146255,NM_024825,NM_001146254 PODNL1,PODNL1,PODNL1 EXON Missense_R311W,Missense_R402W,Missense_R400W exm1433879 19 14043942 [A/G] NM_001146255,NM_024825,NM_001146254 PODNL1,PODNL1,PODNL1 EXON Missense_A281V,Missense_A372V,Missense_A370V exm1433888 19 14044128 [A/G] NM_001146255,NM_024825,NM_001146254 PODNL1,PODNL1,PODNL1 EXON Missense_A219V,Missense_A310V,Missense_A308V exm1433892 19 14044158 [T/C] NM_001146255,NM_024825,NM_001146254 PODNL1,PODNL1,PODNL1 EXON Missense_R209Q,Missense_R300Q,Missense_R298Q exm2228399 19 14044721 [A/G] NM_001146255,NM_024825,NM_001146254 PODNL1,PODNL1,PODNL1 EXON Missense_T162I,Missense_T253I,Missense_T251I exm1433915 19 14046533 [A/C] NM_001146255,NM_024825,NM_001146254 PODNL1,PODNL1,PODNL1 Silent,Silent,Silent exm1433932 19 14046631 [C/G] NM_001146255,NM_024825,NM_001146254 PODNL1,PODNL1,PODNL1 EXON Silent,Missense_P140A,Missense_P138A exm1433937 19 14047183 [T/C] NM_001146255,NM_024825,NM_001146254 PODNL1,PODNL1,PODNL1 EXON Missense_E111K,Missense_E113K,Missense_E111K exm1433940 19 14047234 [A/G] NM_001146255,NM_024825,NM_001146254 PODNL1,PODNL1,PODNL1 EXON Missense_R94C,Missense_R96C,Missense_R94C exm2275349 19 14048688 [T/G] NM_001146255,NM_024825,NM_001146254 PODNL1,PODNL1,PODNL1 EXON Nonsense_C50X,Nonsense_C52X,Nonsense_C50X exm1433961 19 14049013 [T/C] NM_001146255,NM_024825,NM_001146254 PODNL1,PODNL1,PODNL1 EXON Silent,Missense_M1I,Silent exm1433972 19 14065156 [A/G] NM_138353 DCAF15 EXON Missense_S46N exm1433998 19 14067033 [A/G] NM_138353 DCAF15 EXON Missense_G191D exm1434007 19 14067316 [A/G] NM_138353 DCAF15 EXON Missense_V256I exm1434011 19 14069919 [A/C] NM_138353 DCAF15 EXON Missense_P283T exm2228402 19 14070267 [A/G] NM_138353 DCAF15 EXON Missense_G399R exm1434038 19 14070472 [A/G] NM_138353 DCAF15 EXON Missense_R433Q exm1434055 19 14071336 [T/G] NM_138353 DCAF15 EXON Missense_V564G exm1434063 19 14071753 [G/C] NM_138353 DCAF15 EXON Synonymous_G583G exm1434083 19 14074441 [T/C] NM_002918 RFX1 EXON Missense_G827S exm1434085 19 14074492 [T/C] NM_002918 RFX1 EXON Missense_V810M exm1434097 19 14076268 [T/C] NM_002918 RFX1 EXON Missense_R735Q exm1434109 19 14077267 [C/G] NM_002918 RFX1 EXON Missense_L643V exm1434113 19 14077327 [T/C] NM_002918 RFX1 EXON Missense_M623V exm1434123 19 14077528 [T/C] NM_002918 RFX1 EXON Missense_D590N exm1434125 19 14079418 [A/G] NM_002918 RFX1 EXON Missense_S564L exm1434128 19 14079434 [A/G] NM_002918 RFX1 EXON Missense_P559S exm1434130 19 14079452 [T/C] NM_002918 RFX1 EXON Missense_V553M exm1434131 19 14079475 [T/C] NM_002918 RFX1 EXON Missense_K545R exm1434142 19 14083555 [T/C] NM_002918 RFX1 EXON Synonymous_T438T exm1434144 19 14083602 [T/C] NM_002918 RFX1 EXON Missense_S423G exm1434149 19 14083644 [T/C] NM_002918 RFX1 EXON Missense_G409R exm1434159 19 14083761 [T/C] NM_002918 RFX1 EXON Missense_T370A exm1434160 19 14083770 [T/C] NM_002918 RFX1 EXON Missense_A367T exm1434161 19 14083823 [A/G] NM_002918 RFX1 EXON Missense_A349V exm1434196 19 14093007 [T/C] NM_002918 RFX1 EXON Missense_A183T exm1434206 19 14094354 [T/C] NM_002918 RFX1 EXON Missense_A125T exm1434236 19 14139048 [A/C] NM_080864 RLN3 EXON Missense_A11E exm1434240 19 14139104 [T/C] NM_080864 RLN3 EXON Missense_Y30H exm1434241 19 14139113 [A/G] NM_080864 RLN3 EXON Missense_R33G exm1434246 19 14139137 [T/C] NM_080864 RLN3 EXON Nonsense_R41X exm1434263 19 14141666 [T/G] NM_080864 RLN3 EXON Missense_G112V exm1434297 19 14153272 [T/C] NM_004843 IL27RA EXON Missense_P181L exm1434301 19 14153293 [T/C] NM_004843 IL27RA EXON Missense_L188P exm1434305 19 14153416 [T/C] NM_004843 IL27RA EXON Missense_P229L exm1434306 19 14153424 [T/G] NM_004843 IL27RA EXON Missense_A232S exm1434310 19 14153567 [T/C] NM_004843 IL27RA EXON Missense_T245M exm1434314 19 14157021 [A/G] NM_004843 IL27RA EXON Missense_R275H exm1434317 19 14157265 [G/C] NM_004843 IL27RA EXON Missense_V326L exm1434319 19 14157293 [T/C] NM_004843 IL27RA EXON Missense_T335M exm1434322 19 14157331 [T/C] NM_004843 IL27RA EXON Missense_P348S exm1434324 19 14157386 [A/G] NM_004843 IL27RA EXON Missense_N366S exm1434332 19 14159856 [T/C] NM_004843 IL27RA EXON Missense_A402V exm1434349 19 14161636 [T/C] NM_004843 IL27RA EXON Missense_T490I exm1434375 19 14164629 [T/C] NM_001145028 PALM3 EXON Missense_D604N exm1434383 19 14165121 [T/C] NM_001145028 PALM3 EXON Missense_A440T exm1434384 19 14165172 [A/C] NM_001145028 PALM3 EXON Missense_V423L exm1434386 19 14165204 [G/C] NM_001145028 PALM3 EXON Missense_T412R exm1434402 19 14165598 [T/C] NM_001145028 PALM3 EXON Missense_V281M exm1434405 19 14165724 [T/C] NM_001145028 PALM3 EXON Missense_E239K exm1434409 19 14165823 [T/C] NM_001145028 PALM3 EXON Missense_E206K exm1434410 19 14165873 [A/C] NM_001145028 PALM3 EXON Missense_S189I exm1434411 19 14165876 [A/G] NM_001145028 PALM3 EXON Missense_P188L exm1434449 19 14199788 [A/G] NM_138352 SAMD1 EXON Missense_A311V exm1434458 19 14199924 [T/C] NM_138352 SAMD1 EXON Missense_R296H exm1923750 19 14199987 [A/G] NM_138352 SAMD1 EXON Missense_T275I exm1434522 19 14217672 [T/C] NM_207518,NM_002730 PRKACA,PRKACA EXON Missense_R38Q,Missense_R46Q exm1434535 19 14231276 [T/C] NM_018154 ASF1B EXON Missense_I202V exm1434541 19 14231431 [T/C] NM_018154 ASF1B EXON Missense_H150R exm1434611 19 14263331 [T/C] NR_045214,NM_001008701,NM_014921 LOC100507373,LPHN1,LPHN1 EXON Silent,Missense_R1178Q,Missense_R1173Q exm1434643 19 14267780 [T/C] NR_045214,NM_001008701,NM_014921 LOC100507373,LPHN1,LPHN1 EXON Silent,Missense_I980V,Missense_I975V exm1434658 19 14268701 [T/C] NR_045214,NM_001008701,NM_014921 LOC100507373,LPHN1,LPHN1 EXON Silent,Missense_R848H,Missense_R843H exm1434666 19 14269279 [T/G] NR_045214,NM_001008701,NM_014921 LOC100507373,LPHN1,LPHN1 EXON Silent,Missense_E750D,Missense_E745D exm2253648 19 14270289 [A/G] NR_045214,NM_001008701,NM_014921 LOC100507373,LPHN1,LPHN1 EXON Silent,Synonymous_V654V,Synonymous_V649V exm1434692 19 14270941 [T/C] NR_045214,NM_001008701,NM_014921 LOC100507373,LPHN1,LPHN1 EXON Silent,Missense_G600S,Missense_G595S exm1434697 19 14271027 [A/G] NR_045214,NM_001008701,NM_014921 LOC100507373,LPHN1,LPHN1 EXON Silent,Missense_S571F,Missense_S566F exm1434699 19 14271039 [A/G] NR_045214,NM_001008701,NM_014921 LOC100507373,LPHN1,LPHN1 EXON Silent,Missense_A567V,Missense_A562V exm1434700 19 14271040 [T/C] NR_045214,NM_001008701,NM_014921 LOC100507373,LPHN1,LPHN1 EXON Silent,Missense_A567T,Missense_A562T exm1434719 19 14272201 [T/C] NR_045214,NM_001008701,NM_014921 LOC100507373,LPHN1,LPHN1 EXON Silent,Missense_R483Q,Missense_R478Q exm1434726 19 14272295 [A/G] NR_045214,NM_001008701,NM_014921 LOC100507373,LPHN1,LPHN1 EXON Silent,Missense_P452S,Missense_P447S exm1434743 19 14273567 [T/C] NR_045214,NM_001008701,NM_014921 LOC100507373,LPHN1,LPHN1 EXON Silent,Missense_R354H,Missense_R349H exm1434746 19 14273612 [A/G] NR_045214,NM_001008701,NM_014921 LOC100507373,LPHN1,LPHN1 EXON Silent,Missense_A339V,Missense_A334V exm1434749 19 14273649 [T/C] NR_045214,NM_001008701,NM_014921 LOC100507373,LPHN1,LPHN1 EXON Silent,Missense_V327I,Missense_V322I exm1434756 19 14273780 [C/G] NR_045214,NM_001008701,NM_014921 LOC100507373,LPHN1,LPHN1 EXON Silent,Missense_T283S,Missense_T278S exm1434786 19 14288461 [T/C] NM_001008701,NM_014921 LPHN1,LPHN1 EXON Missense_I56V,Missense_I56V exm-rs4528684 19 14351574 [T/C] exm2268182 19 14450812 [A/G] exm1434823 19 14499629 [T/C] NM_001784,NM_078481,NM_001025160 CD97,CD97,CD97 EXON Synonymous_D63D,Synonymous_D63D,Synonymous_D63D exm1434841 19 14507228 [A/C] NM_001784,NM_078481,NM_001025160 CD97,CD97,CD97 EXON Silent,Missense_T141P,Missense_T141P exm1434870 19 14508919 [A/T] NM_001784,NM_078481,NM_001025160 CD97,CD97,CD97 EXON Missense_S196T,Missense_S289T,Missense_S240T exm1434873 19 14512256 [T/C] NM_001784,NM_078481,NM_001025160 CD97,CD97,CD97 EXON Missense_A226V,Missense_A319V,Missense_A270V exm1434875 19 14512260 [T/A] NM_001784,NM_078481,NM_001025160 CD97,CD97,CD97 EXON Synonymous_P227P,Synonymous_P320P,Synonymous_P271P exm1434878 19 14512488 [T/C] NM_001784,NM_078481,NM_001025160 CD97,CD97,CD97 EXON Missense_R274W,Missense_R367W,Missense_R318W exm1434885 19 14512530 [A/G] NM_001784,NM_078481,NM_001025160 CD97,CD97,CD97 EXON Missense_M288V,Missense_M381V,Missense_M332V exm2253650 19 14512563 [A/G] NM_001784,NM_078481,NM_001025160 CD97,CD97,CD97 EXON Missense_E299K,Missense_E392K,Missense_E343K exm1434888 19 14512563 [A/G] NM_001784,NM_078481,NM_001025160 CD97,CD97,CD97 EXON Missense_E299K,Missense_E392K,Missense_E343K exm1434891 19 14513421 [T/C] NM_001784,NM_078481,NM_001025160 CD97,CD97,CD97 EXON Missense_A306V,Missense_A399V,Missense_A350V exm1434908 19 14515198 [A/G] NM_001784,NM_078481,NM_001025160 CD97,CD97,CD97 EXON Missense_V392M,Missense_V485M,Missense_V436M exm1434909 19 14515213 [T/C] NM_001784,NM_078481,NM_001025160 CD97,CD97,CD97 EXON Missense_R397W,Missense_R490W,Missense_R441W exm1434913 19 14515315 [A/C] NM_001784,NM_078481,NM_001025160 CD97,CD97,CD97 EXON Missense_T431P,Missense_T524P,Missense_T475P exm1434942 19 14517319 [C/G] NM_001784,NM_078481,NM_001025160 CD97,CD97,CD97 EXON Missense_I573M,Missense_I666M,Missense_I617M exm1434951 19 14517708 [A/G] NM_001784,NM_078481,NM_001025160 CD97,CD97,CD97 EXON Missense_V622I,Missense_V715I,Missense_V666I exm1434953 19 14517736 [A/G] NM_001784,NM_078481,NM_001025160 CD97,CD97,CD97 EXON Missense_E631G,Missense_E724G,Missense_E675G exm1434961 19 14517896 [T/C] NM_001784,NM_078481,NM_001025160 CD97,CD97,CD97 EXON Missense_A651V,Missense_A744V,Missense_A695V exm1434971 19 14518780 [A/T] NM_001784,NM_078481,NM_001025160 CD97,CD97,CD97 EXON Missense_F720I,Missense_F813I,Missense_F764I exm1434974 19 14518913 [A/G] NM_001784,NM_078481,NM_001025160 CD97,CD97,CD97 EXON Missense_A737T,Missense_A830T,Missense_A781T exm1434975 19 14518914 [T/C] NM_001784,NM_078481,NM_001025160 CD97,CD97,CD97 EXON Missense_A737V,Missense_A830V,Missense_A781V exm1434976 19 14518925 [A/G] NM_001784,NM_078481,NM_001025160 CD97,CD97,CD97 EXON Missense_G741S,Missense_G834S,Missense_G785S exm1435028 19 14521875 [T/C] NR_038336,NR_046366,NM_005804 DDX39A,DDX39A,DDX39A EXON Silent,Silent,Missense_R180Q exm1435032 19 14521948 [T/C] NR_038336,NR_046366,NM_005804 DDX39A,DDX39A,DDX39A EXON Silent,Silent,Missense_D156N exm1435036 19 14522323 [T/C] NR_038336,NR_046366,NM_005804 DDX39A,DDX39A,DDX39A EXON Silent,Silent,Missense_V142I exm1435055 19 14551107 [T/C] NM_002741,NM_213560 PKN1,PKN1 EXON Silent,Missense_A2V exm1435106 19 14562835 [A/C] NM_002741,NM_213560 PKN1,PKN1 EXON Missense_S389R,Missense_S395R exm1435118 19 14569111 [A/G] NM_002741,NM_213560 PKN1,PKN1 EXON Missense_K448R,Missense_K454R exm1435128 19 14574654 [T/C] NM_002741,NM_213560 PKN1,PKN1 EXON Missense_R504C,Missense_R510C exm2276614 19 14574897 [A/C] NM_002741,NM_213560 PKN1,PKN1 EXON Missense_L555I,Missense_L561I exm1435143 19 14574937 [A/G] NM_002741,NM_213560 PKN1,PKN1 EXON Missense_R568Q,Missense_R574Q exm1924081 19 14578384 [T/C] NM_002741,NM_213560 PKN1,PKN1 EXON Missense_P580L,Missense_P586L exm1435166 19 14578707 [A/G] NM_002741,NM_213560 PKN1,PKN1 EXON Missense_R635Q,Missense_R641Q exm1435170 19 14578760 [T/G] NM_002741,NM_213560 PKN1,PKN1 EXON Missense_A653S,Missense_A659S exm1435183 19 14580247 [A/G] NM_002741,NM_213560 PKN1,PKN1 EXON Missense_V691M,Missense_V697M exm1435188 19 14580328 [A/G] NM_002741,NM_213560 PKN1,PKN1 EXON Missense_I718V,Missense_I724V exm2253651 19 14580579 [T/C] NM_002741,NM_213560 PKN1,PKN1 EXON Synonymous_C723C,Synonymous_C729C exm2275044 19 14580776 [A/G] NM_002741,NM_213560 PKN1,PKN1 EXON Missense_A757T,Missense_A763T exm1435201 19 14580984 [A/G] NM_002741,NM_213560 PKN1,PKN1 EXON Missense_Y768C,Missense_Y774C exm1435205 19 14580993 [A/G] NM_002741,NM_213560 PKN1,PKN1 EXON Missense_R771Q,Missense_R777Q exm2253652 19 14581045 [A/G] NM_002741,NM_213560 PKN1,PKN1 EXON Synonymous_T788T,Synonymous_T794T exm1435208 19 14581045 [A/G] NM_002741,NM_213560 PKN1,PKN1 EXON Synonymous_T788T,Synonymous_T794T exm1435236 19 14582468 [A/G] NM_002741,NM_213560 PKN1,PKN1 EXON Missense_V901I,Missense_V907I exm2253653 19 14582545 [T/C] NM_002741,NM_213560 PKN1,PKN1 EXON Synonymous_A926A,Synonymous_A932A exm1435303 19 14589378 [T/C] NM_202470,NM_202469,NM_202468,NM_202494,NM_005716 GIPC1,GIPC1,GIPC1,GIPC1,GIPC1 EXON Synonymous_A284A,Synonymous_A187A,Synonymous_A284A,Synonymous_A187A,Synonymous_A284A exm1435313 19 14590315 [A/G] NM_202470,NM_202469,NM_202468,NM_202494,NM_005716 GIPC1,GIPC1,GIPC1,GIPC1,GIPC1 EXON Missense_A226V,Missense_A129V,Missense_A226V,Missense_A129V,Missense_A226V exm1435315 19 14591129 [A/G] NM_202470,NM_202469,NM_202468,NM_202494,NM_005716 GIPC1,GIPC1,GIPC1,GIPC1,GIPC1 EXON Missense_R215C,Missense_R118C,Missense_R215C,Missense_R118C,Missense_R215C exm1435330 19 14593518 [A/G] NM_202470,NM_202469,NM_202468,NM_202494,NM_005716 GIPC1,GIPC1,GIPC1,GIPC1,GIPC1 EXON Missense_R91C,Silent,Missense_R91C,Silent,Missense_R91C exm1435351 19 14626766 [A/C] NM_006145 DNAJB1 EXON Missense_V337F exm1435353 19 14626787 [T/A] NM_006145 DNAJB1 EXON Missense_S330T exm1924172 19 14626813 [A/C] NM_006145 DNAJB1 EXON Missense_I321S exm1435355 19 14626838 [T/C] NM_006145 DNAJB1 EXON Missense_D313N exm1435360 19 14626895 [A/G] NM_006145 DNAJB1 EXON Missense_R294W exm1435369 19 14627336 [T/C] NM_006145 DNAJB1 EXON Missense_N245S exm1435481 19 14677010 [T/C] NM_004146 NDUFB7 EXON Missense_K117E exm1435482 19 14677022 [T/G] NM_004146 NDUFB7 EXON Missense_K113Q exm2228444 19 14677043 [G/C] NM_004146 NDUFB7 EXON Missense_R106G exm1435488 19 14677580 [T/C] NM_004146 NDUFB7 EXON Missense_R93H exm2228445 19 14677608 [A/G] NM_004146 NDUFB7 EXON Missense_R84W exm1924242 19 14682725 [A/C] NM_004146 NDUFB7 EXON Missense_G30C exm2272819 19 14698231 [T/C] NM_207390,NM_001204118 CLEC17A,CLEC17A Silent,Silent exm1435518 19 14705363 [T/C] NM_207390,NM_001204118 CLEC17A,CLEC17A Silent,Silent exm1435520 19 14705483 [A/G] NM_207390,NM_001204118 CLEC17A,CLEC17A EXON Missense_R117Q,Missense_R117Q exm1435524 19 14705574 [T/C] NM_207390,NM_001204118 CLEC17A,CLEC17A EXON Missense_L122P,Missense_L122P exm1435526 19 14706126 [T/C] NM_207390,NM_001204118 CLEC17A,CLEC17A EXON Synonymous_A148A,Synonymous_A148A exm1924259 19 14706128 [A/G] NM_207390,NM_001204118 CLEC17A,CLEC17A Silent,Silent exm1435535 19 14707938 [T/C] NM_207390,NM_001204118 CLEC17A,CLEC17A EXON Missense_M204T,Missense_M204T exm1435551 19 14736326 [T/C] NM_032571 EMR3 EXON Missense_G633D exm1435557 19 14740942 [A/G] NM_032571 EMR3 EXON Missense_P574L exm1435558 19 14740960 [T/C] NM_032571 EMR3 EXON Missense_G568D exm2253655 19 14740974 [A/G] NM_032571 EMR3 EXON Synonymous_C563C exm1435564 19 14743791 [T/G] NM_032571 EMR3 EXON Missense_I529L exm1435565 19 14743808 [A/C] NM_032571 EMR3 EXON Missense_F523C exm1435576 19 14748936 [A/G] NM_032571 EMR3 EXON Missense_L489F exm1435579 19 14748975 [T/C] NM_032571 EMR3 EXON Missense_A476T exm1435582 19 14749001 [A/G] NM_032571 EMR3 EXON Missense_M467T exm1435584 19 14749056 [A/G] NM_032571 EMR3 EXON Missense_R449W exm1435587 19 14749131 [T/C] NM_032571 EMR3 EXON Missense_G424S exm1435603 19 14755002 [A/G] NM_032571 EMR3 EXON Missense_L323P exm1924292 19 14755036 [T/G] NM_032571 EMR3 EXON Missense_Q312K exm1435613 19 14758168 [A/G] NM_032571 EMR3 EXON Missense_A236V exm1435617 19 14761923 [T/C] NM_032571 EMR3 EXON Missense_S224N exm1435622 19 14765875 [A/G] NM_032571 EMR3 EXON Missense_R166W exm1435628 19 14769339 [C/G] NM_032571 EMR3 EXON Missense_E127Q exm1435629 19 14769345 [T/G] NM_032571 EMR3 EXON Missense_T125P exm1435631 19 14772775 [C/G] NM_032571 EMR3 EXON Missense_D119H exm1924316 19 14774230 [T/C] NM_032571 EMR3 EXON Missense_D67N exm1435642 19 14785569 [T/A] NM_032571 EMR3 EXON Nonsense_L5X exm1435649 19 14805849 [A/G] NM_032433 ZNF333 EXON Missense_V11M exm1435650 19 14805885 [A/G] NM_032433 ZNF333 EXON Missense_A23T exm1435651 19 14805888 [C/G] NM_032433 ZNF333 EXON Missense_R24G exm1435652 19 14805896 [G/C] NM_032433 ZNF333 EXON Missense_S26R exm1435663 19 14815918 [A/C] NM_032433 ZNF333 EXON Missense_E120A exm1435668 19 14815969 [T/C] NM_032433 ZNF333 EXON Missense_S137F exm1435670 19 14815981 [T/C] NM_032433 ZNF333 EXON Missense_T141M exm1435674 19 14817510 [A/G] NM_032433 ZNF333 EXON Missense_A146T exm1435678 19 14817574 [T/C] NM_032433 ZNF333 EXON Missense_A167V exm1435679 19 14817577 [A/G] NM_032433 ZNF333 EXON Missense_R168K exm1435681 19 14826194 [T/C] NM_032433 ZNF333 EXON Missense_A171V exm1435682 19 14826205 [T/C] NM_032433 ZNF333 EXON Missense_R175C exm1924365 19 14826256 [T/C] NM_032433 ZNF333 EXON Missense_P192S exm1435685 19 14826271 [A/G] NM_032433 ZNF333 EXON Missense_A197T exm1435689 19 14826987 [T/C] NM_032433 ZNF333 EXON Missense_S222P exm1435690 19 14827011 [A/G] NM_032433 ZNF333 EXON Missense_D230N exm1435691 19 14827830 [A/C] NM_032433 ZNF333 EXON Missense_A251E exm1435699 19 14829040 [G/C] NM_032433 ZNF333 EXON Missense_E301Q exm1435700 19 14829043 [G/C] NM_032433 ZNF333 EXON Missense_Q302E exm1435707 19 14829218 [A/G] NM_032433 ZNF333 EXON Missense_R360H exm2275045 19 14829284 [T/C] NM_032433 ZNF333 EXON Missense_I382T exm1435718 19 14829589 [T/G] NM_032433 ZNF333 EXON Missense_G484W exm1435726 19 14829749 [T/C] NM_032433 ZNF333 EXON Missense_A537V exm1435733 19 14829844 [T/C] NM_032433 ZNF333 EXON Nonsense_R569X exm1435734 19 14829881 [A/C] NM_032433 ZNF333 EXON Missense_A581E exm1435741 19 14829961 [T/C] NM_032433 ZNF333 EXON Missense_H608Y exm1435746 19 14830073 [T/C] NM_032433 ZNF333 EXON Missense_T645I exm1435753 19 14854231 [T/C] NM_001271052,NM_013447 EMR2,EMR2 Silent,Silent exm1435754 19 14854232 [T/C] NM_001271052,NM_013447 EMR2,EMR2 EXON Synonymous_T763T,Synonymous_T821T exm1435755 19 14854233 [A/G] NM_001271052,NM_013447 EMR2,EMR2 EXON Missense_T763M,Missense_T821M exm1435761 19 14854338 [T/C] NM_001271052,NM_013447 EMR2,EMR2 EXON Missense_R728Q,Missense_R786Q exm1435764 19 14854511 [A/G] NM_001271052,NM_013447 EMR2,EMR2 EXON Missense_R699W,Missense_R757W exm1435766 19 14854552 [A/C] NM_001271052,NM_013447 EMR2,EMR2 EXON Missense_C685F,Missense_C743F exm1435773 19 14857067 [T/G] NM_001271052,NM_013447 EMR2,EMR2 EXON Missense_E662D,Missense_E720D exm1435774 19 14857089 [G/C] NM_001271052,NM_013447 EMR2,EMR2 EXON Missense_R655T,Missense_R713T exm1435775 19 14857114 [C/G] NM_001271052,NM_013447 EMR2,EMR2 EXON Missense_V647L,Missense_V705L exm1435783 19 14862247 [T/C] NM_001271052,NM_013447 EMR2,EMR2 Silent,Silent exm1435785 19 14862278 [A/G] NM_001271052,NM_013447 EMR2,EMR2 EXON Missense_S607F,Missense_S665F exm1435791 19 14862386 [T/C] NM_001271052,NM_013447 EMR2,EMR2 EXON Missense_R571Q,Missense_R629Q exm1435794 19 14862458 [A/G] NM_001271052,NM_013447 EMR2,EMR2 EXON Missense_T547I,Missense_T605I exm1435795 19 14862462 [T/C] NM_001271052,NM_013447 EMR2,EMR2 EXON Missense_G546S,Missense_G604S exm1435801 19 14863149 [A/C] NM_001271052,NM_013447 EMR2,EMR2 EXON Nonsense_G536X,Nonsense_G594X exm1435817 19 14865776 [T/G] NM_001271052,NM_013447 EMR2,EMR2 EXON Silent,Missense_Y527S exm1435819 19 14865802 [C/G] NM_001271052,NM_013447 EMR2,EMR2 EXON Silent,Missense_S518R exm1435821 19 14865857 [T/C] NM_001271052,NM_013447 EMR2,EMR2 EXON Silent,Missense_C500Y exm1435835 19 14866599 [A/G] NM_001271052,NM_013447 EMR2,EMR2 EXON Missense_L428P,Missense_L428P exm1435836 19 14866600 [A/G] NM_001271052,NM_013447 EMR2,EMR2 EXON Missense_L428F,Missense_L428F exm1435841 19 14867083 [T/C] NM_001271052,NM_013447 EMR2,EMR2 EXON Missense_D387N,Missense_D387N exm1435852 19 14875388 [A/G] NM_001271052,NM_013447 EMR2,EMR2 EXON Missense_A314V,Missense_A314V exm1435859 19 14876163 [T/G] NM_001271052,NM_013447 EMR2,EMR2 EXON Missense_Y292S,Missense_Y292S exm1435863 19 14876195 [T/G] NM_001271052,NM_013447 EMR2,EMR2 EXON Missense_F281L,Missense_F281L exm1435897 19 14877799 [C/G] NM_001271052,NM_013447 EMR2,EMR2 EXON Missense_L160V,Missense_L160V exm2228453 19 14883217 [C/G] NM_001271052,NM_013447 EMR2,EMR2 EXON Missense_P98A,Missense_P98A exm1435918 19 14883309 [A/T] NM_001271052,NM_013447 EMR2,EMR2 EXON Missense_D67V,Missense_D67V exm1435940 19 14887567 [A/G] NM_001271052,NM_013447 EMR2,EMR2 EXON Missense_M1T,Missense_M1T exm1435953 19 14910199 [A/C] NM_198944 OR7C1 EXON Missense_L250F exm1435954 19 14910200 [A/C] NM_198944 OR7C1 EXON Missense_L250W exm1435955 19 14910210 [G/C] NM_198944 OR7C1 EXON Missense_V247L exm1435960 19 14910321 [A/G] NM_198944 OR7C1 EXON Missense_S210P exm1435961 19 14910363 [T/A] NM_198944 OR7C1 EXON Missense_N196Y exm1435963 19 14910390 [A/G] NM_198944 OR7C1 EXON Missense_L187F exm1435965 19 14910420 [A/T] NM_198944 OR7C1 EXON Missense_F177I exm1435967 19 14910438 [T/C] NM_198944 OR7C1 EXON Missense_E171K exm1435968 19 14910440 [A/G] NM_198944 OR7C1 EXON Missense_T170I exm1435971 19 14910474 [T/C] NM_198944 OR7C1 EXON Missense_E159K exm1435984 19 14910654 [T/C] NM_198944 OR7C1 EXON Missense_S99G exm1435985 19 14910669 [A/G] NM_198944 OR7C1 EXON Missense_Y94H exm1435987 19 14910752 [A/G] NM_198944 OR7C1 EXON Missense_L66P exm1435988 19 14910828 [T/C] NM_198944 OR7C1 EXON Missense_G41R exm1435994 19 14938144 [A/G] NM_017506 OR7A5 EXON Missense_H304Y exm1435996 19 14938155 [A/G] NM_017506 OR7A5 EXON Missense_A300V exm1436004 19 14938278 [T/C] NM_017506 OR7A5 EXON Missense_Y259C exm1436008 19 14938314 [A/C] NM_017506 OR7A5 EXON Missense_V247G exm1436009 19 14938320 [A/C] NM_017506 OR7A5 EXON Missense_L245R exm1924510 19 14938323 [T/C] NM_017506 OR7A5 EXON Missense_H244R exm1436013 19 14938412 [G/C] NM_017506 OR7A5 EXON Missense_I214M exm1924512 19 14938457 [T/C] NM_017506 OR7A5 EXON Missense_I199M exm1436020 19 14938537 [T/C] NM_017506 OR7A5 EXON Missense_E173K exm1436027 19 14938689 [T/C] NM_017506 OR7A5 EXON Missense_R122Q exm1924513 19 14938690 [A/G] NM_017506 OR7A5 EXON Missense_R122W exm1436031 19 14938860 [T/C] NM_017506 OR7A5 EXON Missense_N65S exm1436040 19 14938986 [A/G] NM_017506 OR7A5 EXON Missense_L23P exm1436042 19 14951762 [A/G] NM_001005190 OR7A10 EXON Missense_X310Q exm1436045 19 14951810 [T/C] NM_001005190 OR7A10 EXON Missense_N294D exm1436046 19 14951821 [T/C] NM_001005190 OR7A10 EXON Missense_Y290C exm1436058 19 14951950 [A/T] NM_001005190 OR7A10 EXON Missense_V247D exm1436069 19 14952143 [G/C] NM_001005190 OR7A10 EXON Missense_Q183E exm1436071 19 14952185 [A/G] NM_001005190 OR7A10 EXON Missense_C169R exm1436076 19 14952238 [A/G] NM_001005190 OR7A10 EXON Missense_M151T exm1436077 19 14952247 [A/G] NM_001005190 OR7A10 EXON Missense_S148F exm1436091 19 14952490 [G/C] NM_001005190 OR7A10 EXON Missense_S67C exm1436098 19 14952611 [A/G] NM_001005190 OR7A10 EXON Missense_L27F exm1436123 19 14991491 [T/C] NM_030901 OR7A17 EXON Missense_R226H exm1436125 19 14991507 [T/C] NM_030901 OR7A17 EXON Missense_I221V exm1436132 19 14991761 [A/G] NM_030901 OR7A17 EXON Missense_M136T exm1436136 19 14991832 [T/G] NM_030901 OR7A17 EXON Missense_S112R exm1436138 19 14991881 [T/C] NM_030901 OR7A17 EXON Missense_G96D exm1436140 19 14991887 [T/C] NM_030901 OR7A17 EXON Missense_Y94C exm1436142 19 14991963 [A/C] NM_030901 OR7A17 EXON Missense_A69S exm2228462 19 15052449 [A/G] NM_012377 OR7C2 EXON Missense_S50N exm1924569 19 15052581 [T/C] NM_012377 OR7C2 EXON Missense_F94S exm1436160 19 15052600 [G/C] NM_012377 OR7C2 EXON Missense_Q100H exm1436164 19 15052653 [T/C] NM_012377 OR7C2 EXON Missense_T118M exm1436167 19 15052665 [A/G] NM_012377 OR7C2 EXON Missense_R122H exm1924573 19 15052962 [T/C] NM_012377 OR7C2 EXON Missense_I221T exm1436179 19 15052973 [A/G] NM_012377 OR7C2 EXON Missense_V225I exm1924576 19 15053121 [T/C] NM_012377 OR7C2 EXON Missense_S274L exm1436192 19 15053181 [A/G] NM_012377 OR7C2 EXON Missense_K294R exm1436196 19 15053223 [T/C] NM_012377 OR7C2 EXON Missense_T308M exm1436197 19 15053226 [T/C] NM_012377 OR7C2 EXON Missense_S309F exm1436204 19 15061155 [A/G] NR_073589,NM_005071 SLC1A6,SLC1A6 EXON Silent,Missense_A516V exm1436227 19 15067354 [T/C] NR_073589,NM_005071 SLC1A6,SLC1A6 EXON Silent,Missense_R368Q exm1436233 19 15067394 [T/C] NR_073589,NM_005071 SLC1A6,SLC1A6 EXON Silent,Missense_G355S exm1436252 19 15073052 [T/C] NR_073589,NM_005071,NM_001272088,NM_001272087 SLC1A6,SLC1A6,SLC1A6,SLC1A6 EXON Silent,Missense_G233R,Missense_G233R,Missense_G233R exm1436254 19 15073090 [A/G] NR_073589,NM_005071,NM_001272088,NM_001272087 SLC1A6,SLC1A6,SLC1A6,SLC1A6 EXON Silent,Missense_P220L,Missense_P220L,Missense_P220L exm2228468 19 15082660 [A/G] NR_073589,NM_005071,NM_001272088,NM_001272087 SLC1A6,SLC1A6,SLC1A6,SLC1A6 EXON Silent,Missense_P78S,Missense_P78S,Missense_P78S exm1436295 19 15083718 [T/C] NR_073589,NM_005071,NM_001272088,NM_001272087 SLC1A6,SLC1A6,SLC1A6,SLC1A6 EXON Silent,Missense_S2N,Missense_S2N,Missense_S2N exm2264672 19 15093503 [A/C] NR_073589 SLC1A6 Silent exm1436299 19 15121692 [T/C] NM_173482 CCDC105 EXON Missense_P19S exm1436300 19 15121702 [T/G] NM_173482 CCDC105 EXON Missense_R22L exm1436305 19 15121809 [A/G] NM_173482 CCDC105 EXON Missense_V58M exm1436309 19 15121858 [C/G] NM_173482 CCDC105 EXON Missense_R74P exm1436324 19 15122104 [T/G] NM_173482 CCDC105 EXON Missense_R156L exm1436329 19 15131276 [G/C] NM_173482 CCDC105 EXON Missense_L227V exm1436334 19 15131319 [A/G] NM_173482 CCDC105 EXON Missense_R241Q exm1436335 19 15131330 [A/G] NM_173482 CCDC105 EXON Missense_V245M exm1436336 19 15131340 [T/C] NM_173482 CCDC105 EXON Missense_M248T exm1924637 19 15131348 [T/C] NM_173482 CCDC105 EXON Missense_P251S exm1436339 19 15131405 [A/G] NM_173482 CCDC105 EXON Missense_A270T exm1436343 19 15131436 [T/C] NM_173482 CCDC105 EXON Missense_T280M exm1436359 19 15132642 [A/G] NM_173482 CCDC105 EXON Missense_E388K exm1436367 19 15133762 [C/G] NM_173482 CCDC105 EXON Missense_S444T exm1436372 19 15133798 [T/C] NM_173482 CCDC105 EXON Missense_V456A exm1436374 19 15133803 [A/G] NM_173482 CCDC105 EXON Missense_G458S exm1924653 19 15163018 [A/G] NM_012114 CASP14 EXON Silent exm1436384 19 15163075 [T/C] NM_012114 CASP14 EXON Missense_R5W exm2276615 19 15163076 [A/G] NM_012114 CASP14 EXON Missense_R5Q exm1436400 19 15164442 [A/G] NM_012114 CASP14 EXON Synonymous_E59E exm2275046 19 15164559 [G/C] NM_012114 CASP14 EXON Missense_L65V exm1436404 19 15164583 [A/G] NM_012114 CASP14 EXON Missense_D73N exm1436407 19 15164601 [A/G] NM_012114 CASP14 EXON Missense_V79I exm1436417 19 15164749 [A/T] NM_012114 CASP14 EXON Missense_I128N exm1436421 19 15165980 [T/C] NM_012114 CASP14 EXON Missense_P139S exm1436429 19 15166067 [A/G] NM_012114 CASP14 EXON Missense_V168I exm1436434 19 15166242 [A/G] NM_012114 CASP14 EXON Synonymous_G174G exm1436435 19 15166249 [A/G] NM_012114 CASP14 EXON Missense_A177T exm1924667 19 15166256 [A/G] NM_012114 CASP14 EXON Missense_R179Q exm1436441 19 15166805 [T/C] NM_012114 CASP14 EXON Missense_R212W exm1436442 19 15166839 [A/T] NM_012114 CASP14 EXON Missense_K223I exm1436443 19 15166851 [T/C] NM_012114 CASP14 EXON Missense_T227M exm1436447 19 15166890 [T/A] NM_012114 CASP14 EXON Missense_Y240F exm1924671 19 15166898 [T/G] NM_012114 CASP14 EXON Missense_X243E exm1436452 19 15197898 [A/G] NM_001004713 OR1I1 EXON Missense_E8K exm1436454 19 15197916 [T/C] NM_001004713 OR1I1 EXON Missense_L14F exm1436461 19 15198044 [G/C] NM_001004713 OR1I1 EXON Missense_H56Q exm1436465 19 15198108 [A/G] NM_001004713 OR1I1 EXON Missense_V78I exm1436471 19 15198241 [A/G] NM_001004713 OR1I1 EXON Missense_R122H exm1436475 19 15198292 [G/C] NM_001004713 OR1I1 EXON Missense_P139R exm1436482 19 15198441 [T/G] NM_001004713 OR1I1 EXON Missense_G189C exm1436484 19 15198448 [A/G] NM_001004713 OR1I1 EXON Missense_D191G exm1436489 19 15198507 [T/C] NM_001004713 OR1I1 EXON Missense_F211L exm1436492 19 15198535 [A/G] NM_001004713 OR1I1 EXON Missense_R220H exm1436497 19 15198606 [T/C] NM_001004713 OR1I1 EXON Missense_H244Y exm1436499 19 15198631 [A/C] NM_001004713 OR1I1 EXON Missense_Y252S exm1436506 19 15198720 [T/A] NM_001004713 OR1I1 EXON Missense_I282F exm1436508 19 15198751 [T/C] NM_001004713 OR1I1 EXON Missense_I292T exm1436512 19 15198804 [A/G] NM_001004713 OR1I1 EXON Missense_V310I exm2272820 19 15203866 [T/C] exm1436527 19 15220100 [A/G] NM_033025 SYDE1 EXON Missense_G108S exm1436528 19 15220105 [G/C] NM_033025 SYDE1 EXON Missense_E109D exm1436529 19 15220142 [T/C] NM_033025 SYDE1 EXON Missense_P122S exm1436561 19 15222191 [A/G] NM_033025 SYDE1 EXON Missense_R453Q exm1436568 19 15222527 [A/G] NM_033025 SYDE1 EXON Missense_R501Q exm1436577 19 15223299 [A/G] NM_033025 SYDE1 EXON Missense_R574H exm1436616 19 15226199 [T/A] NM_006844 ILVBL EXON Missense_L588Q exm1436626 19 15226719 [A/G] NM_006844 ILVBL EXON Missense_F519S exm1436627 19 15226727 [T/C] NM_006844 ILVBL EXON Nonsense_W516X exm1436632 19 15226825 [T/C] NM_006844 ILVBL EXON Missense_R510Q exm1436633 19 15226855 [A/G] NM_006844 ILVBL EXON Missense_A500V exm1436635 19 15226977 [T/C] NM_006844 ILVBL EXON Missense_R486H exm1436644 19 15227253 [A/G] NM_006844 ILVBL EXON Missense_R423W exm1436646 19 15227316 [T/C] NM_006844 ILVBL EXON Missense_V402M exm1436656 19 15228739 [A/G] NM_006844 ILVBL EXON Missense_M380T exm1436657 19 15228749 [G/C] NM_006844 ILVBL EXON Missense_R377G exm1436659 19 15228757 [T/C] NM_006844 ILVBL EXON Missense_N374S exm1436679 19 15230229 [T/C] NM_006844 ILVBL EXON Missense_R305Q exm1436680 19 15230230 [A/G] NM_006844 ILVBL EXON Missense_R305W exm1436681 19 15230239 [T/C] NM_006844 ILVBL EXON Missense_D302N exm1436686 19 15230319 [T/C] NM_006844 ILVBL EXON Missense_R275H exm1436689 19 15230800 [A/G] NM_006844 ILVBL EXON Missense_P270L exm1436693 19 15230830 [G/C] NM_006844 ILVBL EXON Missense_P260R exm1436695 19 15233535 [A/G] NM_006844 ILVBL EXON Missense_P229S exm1436708 19 15233732 [A/G] NM_006844 ILVBL EXON Missense_A192V exm1436714 19 15233965 [T/C] NM_006844 ILVBL EXON Missense_I143V exm1436734 19 15234344 [A/G] NM_006844 ILVBL EXON Missense_A60V exm1436744 19 15235879 [A/G] NM_006844 ILVBL EXON Silent exm1436761 19 15271630 [A/G] NM_000435 NOTCH3 EXON Missense_T2270M exm1436776 19 15272114 [A/G] NM_000435 NOTCH3 EXON Missense_R2109W exm1924739 19 15272378 [T/C] NM_000435 NOTCH3 EXON Missense_V2021M exm1436793 19 15272408 [T/C] NM_000435 NOTCH3 EXON Missense_V2011I exm1436797 19 15272447 [A/G] NM_000435 NOTCH3 EXON Missense_R1998C exm1436809 19 15273335 [T/C] NM_000435 NOTCH3 EXON Missense_V1952M exm1436826 19 15276755 [T/C] NM_000435 NOTCH3 EXON Missense_R1837H exm1436839 19 15278099 [T/C] NM_000435 NOTCH3 EXON Missense_A1775T exm1436865 19 15284936 [G/C] NM_000435 NOTCH3 EXON Missense_R1560P exm1436866 19 15284976 [C/G] NM_000435 NOTCH3 EXON Missense_L1547V exm1436877 19 15285211 [A/G] NM_000435 NOTCH3 EXON Synonymous_N1468N exm1436897 19 15289850 [A/T] NM_000435 NOTCH3 EXON Missense_H1235L exm1436898 19 15289863 [A/G] NM_000435 NOTCH3 EXON Missense_R1231C exm1436900 19 15289890 [A/C] NM_000435 NOTCH3 EXON Missense_C1222G exm1436902 19 15289896 [A/G] NM_000435 NOTCH3 EXON Missense_R1220W exm1436905 19 15289925 [T/C] NM_000435 NOTCH3 EXON Missense_R1210H exm1436908 19 15290007 [T/C] NM_000435 NOTCH3 EXON Missense_V1183M exm1436911 19 15290031 [A/G] NM_000435 NOTCH3 EXON Missense_R1175W exm1436916 19 15290236 [T/G] NM_000435 NOTCH3 EXON Missense_H1133Q exm1436925 19 15291055 [T/C] NM_000435 NOTCH3 EXON Missense_E1052G exm2253659 19 15295134 [A/G] NM_000435 NOTCH3 EXON Synonymous_C846C exm1436961 19 15295165 [A/G] NM_000435 NOTCH3 EXON Missense_T836I exm1436964 19 15295222 [A/G] NM_000435 NOTCH3 EXON Missense_P817L exm1436971 19 15295827 [T/C] NM_000435 NOTCH3 EXON Missense_R767H exm1436981 19 15296215 [A/G] NM_000435 NOTCH3 EXON Missense_R717C exm1436984 19 15296358 [A/G] NM_000435 NOTCH3 EXON Missense_P695L exm1436994 19 15297709 [T/A] NM_000435 NOTCH3 EXON Missense_V644D exm2253660 19 15297974 [A/G] NM_000435 NOTCH3 EXON Synonymous_G594G exm1437021 19 15299048 [A/G] NM_000435 NOTCH3 EXON Missense_S497L exm1437031 19 15300085 [A/G] NM_000435 NOTCH3 EXON Synonymous_I397I exm1437039 19 15302307 [T/C] NM_000435 NOTCH3 EXON Missense_V322M exm1437051 19 15302649 [T/C] NM_000435 NOTCH3 EXON Missense_V237M exm1437059 19 15302914 [A/C] NM_000435 NOTCH3 EXON Missense_G179V exm1437060 19 15302941 [T/C] NM_000435 NOTCH3 EXON Missense_H170R exm2228487 19 15302978 [T/C] NM_000435 NOTCH3 EXON Missense_D158N exm1437076 19 15303304 [T/C] NM_000435 NOTCH3 EXON Missense_R75Q exm1437077 19 15303325 [A/G] NM_000435 NOTCH3 EXON Missense_P68L exm1437079 19 15308317 [T/G] NM_000435 NOTCH3 EXON Missense_A64D exm1437080 19 15308327 [A/G] NM_000435 NOTCH3 EXON Missense_R61W exm1437085 19 15308388 [G/C] NM_000435 NOTCH3 EXON Synonymous_A40A exm1437089 19 15338273 [A/G] NM_024794,NM_001142886 EPHX3,EPHX3 EXON Missense_A353V,Missense_A353V exm1437092 19 15338334 [A/G] NM_024794,NM_001142886 EPHX3,EPHX3 EXON Missense_P333S,Missense_P333S exm1437093 19 15338346 [T/C] NM_024794,NM_001142886 EPHX3,EPHX3 EXON Missense_A329T,Missense_A329T exm1437104 19 15338694 [A/G] NM_024794,NM_001142886 EPHX3,EPHX3 EXON Missense_R249C,Missense_R249C exm1437109 19 15338837 [T/C] NM_024794,NM_001142886 EPHX3,EPHX3 EXON Missense_E231K,Missense_E231K exm1437115 19 15341800 [T/C] NM_024794,NM_001142886 EPHX3,EPHX3 EXON Missense_S197G,Missense_S197G exm1437116 19 15341814 [T/C] NM_024794,NM_001142886 EPHX3,EPHX3 EXON Missense_R192Q,Missense_R192Q exm1924848 19 15342198 [T/C] NM_024794,NM_001142886 EPHX3,EPHX3 EXON Nonsense_W113X,Nonsense_W113X exm1437137 19 15342650 [T/C] NM_024794,NM_001142886 EPHX3,EPHX3 EXON Missense_Y89C,Missense_Y89C exm1437152 19 15349554 [A/G] NM_058243 BRD4 EXON Synonymous_A1340A exm1437153 19 15349596 [A/C] NM_058243 BRD4 EXON Missense_E1326D exm1437162 19 15349764 [G/C] NM_058243 BRD4 EXON Missense_E1270D exm1437167 19 15349909 [A/G] NM_058243 BRD4 EXON Missense_A1248V exm1437185 19 15350485 [T/C] NM_058243 BRD4 EXON Missense_V1144I exm1437193 19 15350625 [T/C] NM_058243 BRD4 EXON Missense_R1097H exm1437243 19 15355137 [T/G] NM_058243 BRD4 EXON Missense_H829P exm1437261 19 15355540 [A/G] NM_058243 BRD4 EXON Missense_P731L exm1437274 19 15365067 [T/G] NM_058243,NM_014299 BRD4,BRD4 EXON Missense_K685T,Missense_K685T exm2228491 19 15366938 [T/C] NM_058243,NM_014299 BRD4,BRD4 EXON Missense_S563N,Missense_S563N exm1437316 19 15374308 [T/C] NM_058243,NM_014299 BRD4,BRD4 EXON Missense_V422I,Missense_V422I exm2253661 19 15375461 [T/C] NM_058243,NM_014299 BRD4,BRD4 EXON Synonymous_R322R,Synonymous_R322R exm2275047 19 15376332 [T/C] NM_058243,NM_014299 BRD4,BRD4 EXON Missense_V228I,Missense_V228I exm1437361 19 15376437 [T/C] NM_058243,NM_014299 BRD4,BRD4 EXON Missense_V193I,Missense_V193I exm1437370 19 15383894 [G/C] NM_058243,NM_014299 BRD4,BRD4 EXON Missense_G6A,Missense_G6A exm1437372 19 15465785 [T/C] NM_005858 AKAP8 EXON Missense_A674T exm2253662 19 15465966 [T/C] NM_005858 AKAP8 EXON Synonymous_A613A exm1437383 19 15465976 [A/G] NM_005858 AKAP8 EXON Missense_T610M exm1437404 19 15471673 [T/C] NM_005858 AKAP8 EXON Missense_N505D exm2253663 19 15471758 [T/G] NM_005858 AKAP8 EXON Synonymous_I476I exm1437408 19 15471788 [A/C] NM_005858 AKAP8 EXON Synonymous_G466G exm1437412 19 15472561 [T/G] NM_005858 AKAP8 EXON Missense_P459T exm1437416 19 15472944 [T/C] NM_005858 AKAP8 EXON Missense_D427N exm1924950 19 15472968 [A/G] NM_005858 AKAP8 EXON Missense_R419W exm1437418 19 15473003 [T/C] NM_005858 AKAP8 EXON Missense_K407R exm1437430 19 15479128 [T/C] NM_005858 AKAP8 EXON Missense_K360E exm1437434 19 15480981 [A/G] NM_005858 AKAP8 EXON Missense_L350F exm1437435 19 15480990 [T/C] NM_005858 AKAP8 EXON Missense_E347K exm1437443 19 15483061 [T/C] NM_005858 AKAP8 EXON Missense_R320Q exm1437455 19 15483137 [A/G] NM_005858 AKAP8 EXON Missense_R295C exm1437477 19 15483942 [T/C] NM_005858 AKAP8 EXON Missense_R194H exm1437481 19 15483991 [A/G] NM_005858 AKAP8 EXON Missense_R178W exm1437484 19 15484023 [T/C] NM_005858 AKAP8 EXON Missense_G167E exm1437491 19 15484129 [T/C] NM_005858 AKAP8 EXON Missense_E132K exm1437494 19 15484604 [A/G] NM_005858 AKAP8 EXON Missense_R122W exm1924976 19 15484736 [A/C] NM_005858 AKAP8 EXON Missense_A78S exm1437507 19 15484739 [T/C] NM_005858 AKAP8 EXON Missense_M77V exm1437508 19 15484747 [A/G] NM_005858 AKAP8 EXON Missense_A74V exm1437540 19 15508081 [T/C] NM_014371 AKAP8L EXON Missense_M472I exm1437541 19 15508362 [G/C] NM_014371 AKAP8L EXON Missense_H458Q exm2228494 19 15512388 [A/G] NM_014371 AKAP8L EXON Missense_S130L exm1437594 19 15514482 [T/C] NM_014371 AKAP8L EXON Missense_T56A exm1437607 19 15533921 [A/G] NM_021241 WIZ EXON Missense_P784L exm1925027 19 15533994 [A/G] NM_021241 WIZ EXON Missense_R760W exm1437629 19 15535649 [T/C] NM_021241 WIZ EXON Missense_G602S exm1437673 19 15538069 [A/G] NM_021241 WIZ EXON Missense_R269C exm1437687 19 15547644 [T/C] NM_021241 WIZ EXON Missense_E168K exm1437702 19 15559016 [T/C] NM_021241 WIZ EXON Missense_E35K exm1437712 19 15562649 [A/G] NM_022904 RASAL3 EXON Missense_P998L exm2253666 19 15563513 [T/C] NM_022904 RASAL3 EXON Synonymous_Q928Q exm1437722 19 15563529 [G/C] NM_022904 RASAL3 EXON Missense_T923R exm1437740 19 15564993 [T/C] NM_022904 RASAL3 EXON Missense_R749H exm1437748 19 15565224 [T/G] NM_022904 RASAL3 EXON Missense_Q703P exm2253667 19 15565470 [A/G] NM_022904 RASAL3 EXON Synonymous_A652A exm1437754 19 15565474 [T/C] NM_022904 RASAL3 EXON Missense_R651H exm1437761 19 15565646 [A/G] NM_022904 RASAL3 EXON Missense_R594C exm1437767 19 15566949 [T/C] NM_022904 RASAL3 EXON Missense_E563K exm1925094 19 15567000 [A/G] NM_022904 RASAL3 EXON Missense_C546R exm1437772 19 15567047 [T/C] NM_022904 RASAL3 EXON Missense_R530Q exm1437797 19 15569378 [C/G] NM_022904 RASAL3 EXON Missense_L251V exm1437798 19 15569389 [T/C] NM_022904 RASAL3 EXON Missense_R247Q exm1437802 19 15571021 [A/G] NM_022904 RASAL3 EXON Missense_R219W exm1437807 19 15572053 [A/C] NM_022904 RASAL3 EXON Missense_A174S exm1437813 19 15572397 [A/G] NM_022904 RASAL3 EXON Missense_L117P exm2228499 19 15572399 [G/C] NM_022904 RASAL3 EXON Missense_E116D exm1437818 19 15574910 [T/C] NM_022904 RASAL3 EXON Missense_K87R exm1437819 19 15574925 [G/C] NM_022904 RASAL3 EXON Missense_R82P exm1437821 19 15574950 [A/G] NM_022904 RASAL3 EXON Missense_P74S exm1437828 19 15579491 [T/C] NM_052890 PGLYRP2 EXON Missense_A572T exm1437849 19 15580694 [A/G] NM_052890 PGLYRP2 EXON Missense_H464Y exm2228502 19 15582711 [T/C] NM_052890 PGLYRP2 EXON Missense_I445V exm1437858 19 15582863 [T/C] NM_052890 PGLYRP2 EXON Missense_R394Q exm1437863 19 15586385 [T/C] NM_052890 PGLYRP2 EXON Missense_A366T exm1437864 19 15586393 [T/G] NM_052890 PGLYRP2 EXON Missense_Q363P exm2253668 19 15586545 [T/G] NM_052890 PGLYRP2 EXON Synonymous_P312P exm1437879 19 15586618 [T/C] NM_052890 PGLYRP2 EXON Missense_R288Q exm1437880 19 15586619 [A/G] NM_052890 PGLYRP2 EXON Missense_R288W exm1437882 19 15586672 [T/A] NM_052890 PGLYRP2 EXON Missense_M270K exm1437883 19 15586711 [T/G] NM_052890 PGLYRP2 EXON Missense_T257N exm1437884 19 15586714 [T/C] NM_052890 PGLYRP2 EXON Missense_R256Q exm1437886 19 15586780 [A/C] NM_052890 PGLYRP2 EXON Missense_G234V exm1437887 19 15586783 [C/G] NM_052890 PGLYRP2 EXON Missense_R233P exm1437898 19 15587104 [A/G] NM_052890 PGLYRP2 EXON Missense_A126V exm1437902 19 15587185 [T/C] NM_052890 PGLYRP2 EXON Missense_R99Q exm1437907 19 15587345 [T/C] NM_052890 PGLYRP2 EXON Missense_T46A exm1437913 19 15590152 [T/C] NM_052890 PGLYRP2 EXON Missense_G11R exm1437918 19 15636167 [A/G] NM_173483 CYP4F22 EXON Missense_R7H exm1437923 19 15636215 [T/C] NM_173483 CYP4F22 EXON Missense_A23V exm1437927 19 15636269 [A/G] NM_173483 CYP4F22 EXON Missense_R41Q exm1437929 19 15636307 [T/C] NM_173483 CYP4F22 EXON Missense_R54C exm1437930 19 15636308 [A/G] NM_173483 CYP4F22 EXON Missense_R54H exm1437931 19 15636317 [A/G] NM_173483 CYP4F22 EXON Missense_R57H exm1437948 19 15648180 [A/G] NM_173483 CYP4F22 EXON Missense_A126T exm1437950 19 15648183 [T/C] NM_173483 CYP4F22 EXON Missense_P127S exm1437957 19 15648387 [T/C] NM_173483 CYP4F22 EXON Missense_H155Y exm1437959 19 15648394 [A/G] NM_173483 CYP4F22 EXON Missense_R157H exm1437961 19 15648409 [G/C] NM_173483 CYP4F22 EXON Missense_A162G exm1437965 19 15648456 [A/T] NM_173483 CYP4F22 EXON Missense_S178C exm1437967 19 15648692 [T/C] NM_173483 CYP4F22 EXON Missense_R187W exm1437969 19 15648714 [T/C] NM_173483 CYP4F22 EXON Missense_A194V exm1437971 19 15648720 [C/G] NM_173483 CYP4F22 EXON Missense_S196C exm1925155 19 15648800 [T/C] NM_173483 CYP4F22 EXON Nonsense_Q223X exm1437977 19 15651323 [A/G] NM_173483 CYP4F22 EXON Missense_Y245C exm1437978 19 15651325 [T/C] NM_173483 CYP4F22 EXON Missense_R246C exm1437981 19 15651359 [A/G] NM_173483 CYP4F22 EXON Missense_R257H exm2228506 19 15651365 [G/C] NM_173483 CYP4F22 EXON Missense_A259G exm1437984 19 15651374 [A/G] NM_173483 CYP4F22 EXON Missense_R262Q exm1437989 19 15651437 [A/G] NM_173483 CYP4F22 EXON Missense_R283Q exm1925163 19 15651439 [T/C] NM_173483 CYP4F22 EXON Missense_R284W exm1437992 19 15651463 [A/G] NM_173483 CYP4F22 EXON Missense_E292K exm1438005 19 15655023 [T/C] NM_173483 CYP4F22 EXON Missense_Y357H exm2277146 19 15661500 [T/C] NM_173483 CYP4F22 EXON Missense_R451C exm1438018 19 15661501 [A/G] NM_173483 CYP4F22 EXON Missense_R451H exm1438023 19 15662139 [T/G] NM_173483 CYP4F22 EXON Missense_L485V exm1438025 19 15662199 [A/C] NM_173483 CYP4F22 EXON Missense_K505Q exm1438034 19 15726546 [A/C] NM_007253 CYP4F8 EXON Missense_A40D exm1438039 19 15726573 [A/G] NM_007253 CYP4F8 EXON Missense_R49Q exm1438053 19 15728931 [A/G] NM_007253 CYP4F8 EXON Missense_V107I exm1438061 19 15730329 [A/C] NM_007253 CYP4F8 EXON Missense_F124L exm1438072 19 15730566 [A/C] NM_007253 CYP4F8 EXON Nonsense_S173X exm1438073 19 15733037 [A/G] NM_007253 CYP4F8 EXON Missense_G178D exm1438082 19 15733986 [A/T] NM_007253 CYP4F8 EXON Missense_S240T exm1438110 19 15739165 [A/G] NM_007253 CYP4F8 EXON Missense_G390S exm1438125 19 15739597 [A/C] NM_007253 CYP4F8 EXON Missense_Q447P exm1438130 19 15740067 [A/C] NM_007253 CYP4F8 EXON Nonsense_C487X exm1438139 19 15752322 [T/C] NM_000896,NM_001199209,NM_001199208 CYP4F3,CYP4F3,CYP4F3 EXON Missense_R33C,Missense_R33C,Missense_R33C exm1438143 19 15752365 [A/G] NM_000896,NM_001199209,NM_001199208 CYP4F3,CYP4F3,CYP4F3 EXON Missense_R47H,Missense_R47H,Missense_R47H exm1438148 19 15752389 [T/C] NM_000896,NM_001199209,NM_001199208 CYP4F3,CYP4F3,CYP4F3 EXON Missense_P55L,Missense_P55L,Missense_P55L exm1438150 19 15752394 [T/C] NM_000896,NM_001199209,NM_001199208 CYP4F3,CYP4F3,CYP4F3 EXON Missense_R57W,Missense_R57W,Missense_R57W exm1438151 19 15754727 [T/C] NM_000896,NM_001199209,NM_001199208 CYP4F3,CYP4F3,CYP4F3 EXON Silent,Missense_T70M,Missense_T70M exm1438157 19 15756539 [T/C] NM_000896,NM_001199209,NM_001199208 CYP4F3,CYP4F3,CYP4F3 EXON Missense_S70L,Silent,Silent exm1438160 19 15756582 [A/C] NM_000896,NM_001199209,NM_001199208 CYP4F3,CYP4F3,CYP4F3 EXON Missense_F84L,Silent,Silent exm1438161 19 15756596 [A/G] NM_000896,NM_001199209,NM_001199208 CYP4F3,CYP4F3,CYP4F3 EXON Missense_C89Y,Silent,Silent exm1438164 19 15756625 [A/G] NM_000896,NM_001199209,NM_001199208 CYP4F3,CYP4F3,CYP4F3 EXON Missense_V99I,Silent,Silent exm1438227 19 15763710 [T/C] NM_000896,NM_001199209,NM_001199208 CYP4F3,CYP4F3,CYP4F3 EXON Missense_R355W,Missense_R355W,Missense_R355W exm1438264 19 15769607 [T/C] NM_000896,NM_001199209,NM_001199208 CYP4F3,CYP4F3,CYP4F3 EXON Missense_S462L,Missense_S462L,Missense_S462L exm1438286 19 15784370 [T/C] NM_023944 CYP4F12 EXON Missense_L11F exm1438287 19 15784377 [T/C] NM_023944 CYP4F12 EXON Missense_P13L exm1438289 19 15784386 [T/C] NM_023944 CYP4F12 EXON Missense_T16M exm1438290 19 15784427 [A/C] NM_023944 CYP4F12 EXON Missense_L30I exm1438293 19 15784436 [T/C] NM_023944 CYP4F12 EXON Missense_R33C exm1438294 19 15784437 [A/G] NM_023944 CYP4F12 EXON Missense_R33H exm1438297 19 15784472 [T/C] NM_023944 CYP4F12 EXON Missense_C45R exm1438300 19 15784478 [T/C] NM_023944 CYP4F12 EXON Missense_R47W exm1438304 19 15789098 [A/G] NM_023944 CYP4F12 EXON Missense_N76D exm1438307 19 15789125 [T/C] NM_023944 CYP4F12 EXON Missense_S85P exm1438309 19 15789140 [A/G] NM_023944 CYP4F12 EXON Missense_I90V exm1438318 19 15791066 [T/C] NM_023944 CYP4F12 EXON Missense_P119L exm1438322 19 15791081 [T/C] NM_023944 CYP4F12 EXON Missense_F124S exm2276617 19 15793213 [A/C] NM_023944 CYP4F12 EXON Missense_H180Q exm1438355 19 15794349 [T/G] NM_023944 CYP4F12 EXON Missense_V232L exm1438356 19 15794352 [C/G] NM_023944 CYP4F12 EXON Missense_E233Q exm2253673 19 15794411 [T/C] NM_023944 CYP4F12 EXON Synonymous_D252D exm1438363 19 15794418 [T/C] NM_023944 CYP4F12 EXON Missense_R255C exm1438374 19 15794475 [T/C] NM_023944 CYP4F12 EXON Missense_R274W exm1438377 19 15794491 [G/C] NM_023944 CYP4F12 EXON Missense_P279R exm1438391 19 15795693 [A/G] NM_023944 CYP4F12 Silent exm1438406 19 15806783 [A/G] NM_023944 CYP4F12 EXON Missense_V385M exm1438409 19 15806828 [T/C] NM_023944 CYP4F12 EXON Nonsense_R400X exm1438410 19 15806834 [T/C] NM_023944 CYP4F12 EXON Missense_C402R exm1438411 19 15806846 [A/G] NM_023944 CYP4F12 EXON Missense_I406V exm1925291 19 15807016 [A/C] NM_023944 CYP4F12 EXON Missense_T432N exm1438438 19 15807720 [A/G] NM_023944 CYP4F12 EXON Missense_N467S exm1438447 19 15807839 [A/C] NM_023944 CYP4F12 EXON Missense_R507S exm2253674 19 15807841 [T/C] NM_023944 CYP4F12 EXON Synonymous_R507R exm1438449 19 15807842 [A/G] NM_023944 CYP4F12 EXON Missense_A508T exm1438457 19 15807884 [A/G] NM_023944 CYP4F12 EXON Missense_S522G exm2228520 19 15807984 [A/G] NM_023944 CYP4F12 EXON Silent exm1438461 19 15838869 [T/C] NM_013939 OR10H2 EXON Missense_H6Y exm1438470 19 15839045 [A/C] NM_013939 OR10H2 EXON Nonsense_C64X exm1438497 19 15839335 [T/C] NM_013939 OR10H2 EXON Missense_S161L exm1438499 19 15839365 [T/C] NM_013939 OR10H2 EXON Missense_S171F exm1438510 19 15839496 [A/G] NM_013939 OR10H2 EXON Missense_I215V exm1438519 19 15839671 [A/C] NM_013939 OR10H2 EXON Missense_T273N exm1438525 19 15839751 [T/G] NM_013939 OR10H2 EXON Missense_V300F exm1438535 19 15852223 [A/C] NM_013938 OR10H3 EXON Missense_R7S exm1438536 19 15852242 [A/C] NM_013938 OR10H3 EXON Missense_L14I exm1438537 19 15852309 [A/T] NM_013938 OR10H3 EXON Missense_F36Y exm1438540 19 15852363 [A/G] NM_013938 OR10H3 EXON Missense_R54H exm1438551 19 15852564 [A/G] NM_013938 OR10H3 EXON Missense_Y121C exm1438555 19 15852594 [A/T] NM_013938 OR10H3 EXON Missense_L131Q exm1438563 19 15852749 [T/C] NM_013938 OR10H3 EXON Missense_L183F exm1438567 19 15852849 [A/T] NM_013938 OR10H3 EXON Missense_I216N exm1438569 19 15852872 [A/G] NM_013938 OR10H3 EXON Missense_V224M exm1925327 19 15852908 [T/C] NM_013938 OR10H3 EXON Missense_R236W exm1438573 19 15852932 [A/G] NM_013938 OR10H3 EXON Missense_V244I exm1438575 19 15852986 [T/C] NM_013938 OR10H3 EXON Missense_L262F exm1438581 19 15853080 [A/G] NM_013938 OR10H3 EXON Missense_S293N exm1438596 19 15904935 [T/C] NM_001004466 OR10H5 EXON Missense_M26T exm1438601 19 15905016 [A/G] NM_001004466 OR10H5 EXON Missense_R53H exm1438636 19 15905357 [A/G] NM_001004466 OR10H5 EXON Missense_A167T exm1438638 19 15905414 [A/C] NM_001004466 OR10H5 EXON Missense_K186Q exm1438666 19 15905772 [T/C] NM_001004466 OR10H5 EXON Missense_T305I exm1438696 19 15918349 [T/C] NM_013940 OR10H1 EXON Missense_A167T exm1438735 19 15918802 [G/C] NM_013940 OR10H1 EXON Missense_G16R exm1438758 19 15990223 [A/G] NM_001082 CYP4F2 EXON Missense_R444C exm1438764 19 15990431 [T/C] NM_001082 CYP4F2 EXON Missense_V433M exm1925373 19 15990598 [A/G] NM_001082 CYP4F2 EXON Missense_P409S exm1438769 19 15990625 [A/G] NM_001082 CYP4F2 EXON Missense_R400C exm1438811 19 16000481 [A/C] NM_001082 CYP4F2 EXON Missense_A224S exm1438843 19 16006337 [A/G] NM_001082 CYP4F2 EXON Missense_R108W exm1438857 19 16008276 [T/C] NM_001082 CYP4F2 EXON Missense_R49Q exm1925400 19 16008283 [A/G] NM_001082 CYP4F2 EXON Missense_R47C exm1438867 19 16008402 [T/G] NM_001082 CYP4F2 EXON Missense_S7Y exm1438868 19 16008417 [A/G] NM_001082 CYP4F2 EXON Missense_S2F exm1438874 19 16024583 [T/G] NM_021187,NM_001128932 CYP4F11,CYP4F11 EXON Missense_L512I,Missense_L512I exm1438875 19 16024595 [T/C] NM_021187,NM_001128932 CYP4F11,CYP4F11 EXON Missense_A508T,Missense_A508T exm1438880 19 16024649 [A/G] NM_021187,NM_001128932 CYP4F11,CYP4F11 EXON Missense_R490C,Missense_R490C exm1438889 19 16025176 [T/C] NM_021187,NM_001128932 CYP4F11,CYP4F11 EXON Missense_D446N,Missense_D446N exm1438891 19 16025182 [A/G] NM_021187,NM_001128932 CYP4F11,CYP4F11 EXON Missense_R444C,Missense_R444C exm1438893 19 16025439 [G/C] NM_021187,NM_001128932 CYP4F11,CYP4F11 EXON Nonsense_Y429X,Nonsense_Y429X exm2253676 19 16025633 [T/C] NM_021187,NM_001128932 CYP4F11,CYP4F11 EXON Synonymous_P396P,Synonymous_P396P exm1438902 19 16025634 [A/G] NM_021187,NM_001128932 CYP4F11,CYP4F11 EXON Missense_P396L,Missense_P396L exm1438923 19 16034714 [A/G] NM_021187,NM_001128932 CYP4F11,CYP4F11 EXON Missense_C276R,Missense_C276R exm1438933 19 16034843 [T/C] NM_021187,NM_001128932 CYP4F11,CYP4F11 EXON Missense_E233K,Missense_E233K exm1438941 19 16035679 [T/C] NM_021187,NM_001128932 CYP4F11,CYP4F11 EXON Missense_R180H,Missense_R180H exm1438960 19 16040288 [A/G] NM_021187,NM_001128932 CYP4F11,CYP4F11 EXON Missense_R108W,Missense_R108W exm1438969 19 16045076 [A/T] NM_021187,NM_001128932 CYP4F11,CYP4F11 EXON Missense_L48H,Missense_L48H exm1438997 19 16059921 [T/C] NM_001004465 OR10H4 EXON Missense_M35T exm1439007 19 16060117 [A/C] NM_001004465 OR10H4 EXON Missense_N100K exm1439008 19 16060147 [T/C] NM_001004465 OR10H4 EXON Synonymous_F110F exm2253677 19 16060147 [T/C] NM_001004465 OR10H4 EXON Synonymous_F110F exm1439010 19 16060211 [T/C] NM_001004465 OR10H4 EXON Missense_R132C exm1439011 19 16060212 [A/G] NM_001004465 OR10H4 EXON Missense_R132H exm1439015 19 16060236 [A/G] NM_001004465 OR10H4 EXON Missense_R140H exm1439016 19 16060248 [A/G] NM_001004465 OR10H4 EXON Missense_H144R exm1439019 19 16060267 [A/G] NM_001004465 OR10H4 EXON Nonsense_W150X exm1439032 19 16060491 [A/C] NM_001004465 OR10H4 EXON Missense_A225D exm1439034 19 16060506 [T/C] NM_001004465 OR10H4 EXON Missense_I230T exm1439036 19 16060517 [A/G] NM_001004465 OR10H4 EXON Missense_E234K exm1439037 19 16060523 [T/C] NM_001004465 OR10H4 EXON Missense_R236W exm1439038 19 16060524 [A/G] NM_001004465 OR10H4 EXON Missense_R236Q exm1439042 19 16060577 [T/C] NM_001004465 OR10H4 EXON Missense_Y254H exm1439043 19 16060587 [T/C] NM_001004465 OR10H4 EXON Missense_A257V exm1439048 19 16060632 [A/G] NM_001004465 OR10H4 EXON Missense_S272N exm1439051 19 16060658 [A/G] NM_001004465 OR10H4 EXON Missense_T281A exm1439100 19 16212103 [A/G] NM_001145160,NM_003290 TPM4,TPM4 EXON Missense_V268M,Missense_V232M exm2276619 19 16229059 [A/G] NM_005370 RAB8A EXON Missense_I50V exm1439176 19 16268042 [A/G] NM_032855 HSH2D EXON Missense_C166Y exm1439183 19 16268266 [A/G] NM_032855 HSH2D EXON Synonymous_T240T exm1439184 19 16268287 [T/C] NM_032855 HSH2D EXON Synonymous_T247T exm1439187 19 16268326 [A/G] NM_032855 HSH2D EXON Synonymous_S260S exm1439190 19 16268366 [T/C] NM_032855 HSH2D EXON Missense_L274F exm1439206 19 16275609 [A/C] NM_054113 CIB3 EXON Missense_D154E exm1439208 19 16275656 [T/C] NM_054113 CIB3 EXON Missense_G139R exm1439234 19 16284253 [A/G] NM_054113 CIB3 EXON Nonsense_Q12X exm1439253 19 16301707 [A/G] NM_014077 FAM32A EXON Missense_R94G exm1925586 19 16317196 [T/G] NM_001130524,NM_032493 AP1M1,AP1M1 EXON Missense_S82A,Missense_S82A exm1439297 19 16338360 [T/C] NM_001130524,NM_032493 AP1M1,AP1M1 EXON Synonymous_R237R,Synonymous_R225R exm1439298 19 16338361 [A/G] NM_001130524,NM_032493 AP1M1,AP1M1 EXON Missense_G238S,Missense_G226S exm2253680 19 16339673 [A/G] NM_001130524,NM_032493 AP1M1,AP1M1 EXON Synonymous_T339T,Synonymous_T327T exm1439323 19 16344337 [A/G] NM_001130524,NM_032493 AP1M1,AP1M1 EXON Missense_G373S,Missense_G361S exm2272821 19 16387640 [T/C] exm1439372 19 16472595 [T/C] NR_047665,NM_001258374,NM_021235,NR_047666,NM_001258375 EPS15L1,EPS15L1,EPS15L1,EPS15L1,EPS15L1 EXON Silent,Missense_T861A,Missense_T861A,Silent,Silent exm1439382 19 16472751 [T/C] NR_047665,NM_001258374,NM_021235,NR_047666,NM_001258375 EPS15L1,EPS15L1,EPS15L1,EPS15L1,EPS15L1 EXON Silent,Missense_E809K,Missense_E809K,Silent,Silent exm1925654 19 16503140 [A/G] NR_047665,NM_001258374,NM_021235,NR_047666,NM_001258375 EPS15L1,EPS15L1,EPS15L1,EPS15L1,EPS15L1 EXON Silent,Missense_T693M,Missense_T693M,Silent,Missense_T693M exm2228541 19 16513191 [T/C] NR_047665,NM_001258374,NM_021235,NR_047666,NM_001258375,NM_001258376 EPS15L1,EPS15L1,EPS15L1,EPS15L1,EPS15L1,EPS15L1 EXON Silent,Missense_D578N,Missense_D578N,Silent,Missense_D578N,Missense_D578N exm1439427 19 16514662 [A/G] NR_047665,NM_001258374,NM_021235,NR_047666,NM_001258375,NM_001258376 EPS15L1,EPS15L1,EPS15L1,EPS15L1,EPS15L1,EPS15L1 EXON Silent,Missense_S503L,Missense_S503L,Silent,Missense_S503L,Missense_S503L exm1439444 19 16524631 [T/C] NR_047665,NM_001258374,NM_021235,NR_047666,NM_001258375,NM_001258376 EPS15L1,EPS15L1,EPS15L1,EPS15L1,EPS15L1,EPS15L1 EXON Silent,Missense_I407V,Missense_I407V,Silent,Missense_I407V,Missense_I407V exm1439455 19 16528781 [A/G] NR_047665,NM_001258374,NM_021235,NR_047666,NM_001258375,NM_001258376 EPS15L1,EPS15L1,EPS15L1,EPS15L1,EPS15L1,EPS15L1 EXON Silent,Missense_S362L,Missense_S362L,Silent,Missense_S362L,Missense_S362L exm1439459 19 16528802 [A/G] NR_047665,NM_001258374,NM_021235,NR_047666,NM_001258375,NM_001258376 EPS15L1,EPS15L1,EPS15L1,EPS15L1,EPS15L1,EPS15L1 EXON Silent,Missense_S355L,Missense_S355L,Silent,Missense_S355L,Missense_S355L exm1439460 19 16528810 [T/G] NR_047665,NM_001258374,NM_021235,NR_047666,NM_001258375,NM_001258376 EPS15L1,EPS15L1,EPS15L1,EPS15L1,EPS15L1,EPS15L1 EXON Silent,Missense_Q352H,Missense_Q352H,Silent,Missense_Q352H,Missense_Q352H exm1925711 19 16589983 [C/G] NM_145046 CALR3 EXON Missense_E372Q exm1439512 19 16590019 [A/C] NM_145046 CALR3 EXON Nonsense_E360X exm1439514 19 16590030 [A/C] NM_145046 CALR3 EXON Missense_R356L exm1439518 19 16591433 [T/C] NM_145046 CALR3 EXON Missense_E335K exm1439526 19 16593329 [T/C] NM_145046 CALR3 EXON Missense_D284N exm1439528 19 16593331 [A/G] NM_145046 CALR3 EXON Missense_T283I exm1439531 19 16593359 [T/C] NM_145046 CALR3 EXON Missense_V274I exm2228543 19 16594899 [T/G] NM_145046 CALR3 EXON Missense_L174I exm2253683 19 16601194 [T/C] NM_145046 CALR3 EXON Synonymous_Q127Q exm1439563 19 16601194 [T/C] NM_145046 CALR3 EXON Synonymous_Q127Q exm1439567 19 16601330 [T/C] NM_145046 CALR3 EXON Missense_K82R exm1439569 19 16601360 [T/C] NM_145046 CALR3 EXON Missense_G72D exm1439576 19 16606630 [T/C] NM_145046 CALR3 EXON Missense_N42S exm1439581 19 16606920 [G/C] NM_145046 CALR3 EXON Missense_Q7H exm1439584 19 16611613 [T/G] NM_032207 C19orf44 EXON Missense_A4S exm1439588 19 16611868 [T/C] NM_032207 C19orf44 EXON Nonsense_R89X exm1439590 19 16611886 [A/G] NM_032207 C19orf44 EXON Missense_M95V exm1439601 19 16612105 [A/G] NM_032207 C19orf44 EXON Missense_A168T exm1439612 19 16612330 [A/G] NM_032207 C19orf44 EXON Missense_V243I exm1439622 19 16613969 [A/G] NM_032207 C19orf44 EXON Missense_A285T exm1925746 19 16613993 [T/C] NM_032207 C19orf44 EXON Missense_R293C exm1439629 19 16614051 [T/C] NM_032207 C19orf44 EXON Missense_P312L exm1439637 19 16614154 [C/G] NM_032207 C19orf44 EXON Missense_D346E exm2228546 19 16617533 [T/C] NM_032207 C19orf44 EXON Missense_S366L exm2228547 19 16620328 [T/C] NM_032207 C19orf44 EXON Nonsense_Q390X exm1439665 19 16620716 [T/C] NM_032207 C19orf44 EXON Missense_S519L exm1439669 19 16620764 [T/C] NM_032207 C19orf44 EXON Missense_T535M exm1439673 19 16623876 [T/C] NM_032207 C19orf44 EXON Missense_P564L exm1439693 19 16630095 [T/C] NM_032207,NM_006387 C19orf44,CHERP EXON Silent,Missense_V876I exm2253684 19 16630994 [T/G] NM_032207,NM_006387 C19orf44,CHERP EXON Silent,Synonymous_R810R exm1439710 19 16631060 [A/G] NM_032207,NM_006387 C19orf44,CHERP EXON Silent,Missense_R788C exm1439775 19 16640639 [A/G] NM_006387 CHERP EXON Missense_L317F exm1439787 19 16643500 [T/C] NM_006387 CHERP EXON Missense_G195S exm1439792 19 16643822 [T/C] NM_006387 CHERP EXON Synonymous_S174S exm1439812 19 16653184 [A/C] NM_006387 CHERP EXON Missense_E2D exm1439822 19 16664573 [A/G] NM_024881 SLC35E1 EXON Missense_R384C exm1439823 19 16664591 [T/C] NM_024881 SLC35E1 EXON Missense_G378R exm1439829 19 16664644 [T/C] NM_024881 SLC35E1 EXON Missense_R360H exm1439842 19 16666033 [T/C] NM_024881 SLC35E1 EXON Missense_R311H exm1439874 19 16686864 [T/C] NM_004831 MED26 EXON Missense_I593V exm1439881 19 16686993 [T/C] NM_004831 MED26 EXON Missense_D550N exm1925834 19 16687007 [T/C] NM_004831 MED26 EXON Missense_R545Q exm1439888 19 16687136 [A/G] NM_004831 MED26 EXON Missense_A502V exm1439905 19 16687505 [A/G] NM_004831 MED26 EXON Missense_A379V exm1439906 19 16687536 [A/G] NM_004831 MED26 EXON Missense_R369W exm1439911 19 16687586 [G/C] NM_004831 MED26 EXON Missense_A352G exm1439912 19 16687637 [A/G] NM_004831 MED26 EXON Missense_A335V exm1439922 19 16687832 [T/C] NM_004831 MED26 EXON Missense_R270H exm1439928 19 16687898 [A/G] NM_004831 MED26 EXON Missense_S248L exm1439934 19 16688018 [T/C] NM_004831 MED26 EXON Missense_R208H exm1439942 19 16688162 [A/C] NM_004831 MED26 EXON Missense_G160V exm1439959 19 16689144 [A/G] NM_004831 MED26 Silent exm1439973 19 16764925 [A/G] NM_024104 SMIM7 EXON Missense_R45W exm1439974 19 16764936 [T/C] NM_024104 SMIM7 EXON Missense_G41D exm1439975 19 16770227 [T/C] NM_024104 SMIM7 EXON Missense_E34K exm1440009 19 16791309 [A/G] NM_024074 TMEM38A EXON Missense_R128H exm1440010 19 16791318 [T/C] NM_024074 TMEM38A EXON Missense_A131V exm2277148 19 16793274 [A/G] NM_024074 TMEM38A EXON Missense_R170Q exm1440025 19 16797187 [A/C] NM_024074 TMEM38A EXON Missense_I215L exm1925878 19 16799021 [A/G] NM_024074 TMEM38A EXON Missense_V247M exm1440031 19 16799060 [A/G] NM_024074 TMEM38A EXON Missense_D260N exm1440036 19 16799120 [A/G] NM_024074 TMEM38A EXON Missense_A280T exm2272822 19 16808183 [T/C] exm2272765 19 16831060 [T/C] NM_001007525 NWD1 EXON Silent exm1440041 19 16842052 [T/G] NM_001007525 NWD1 EXON Missense_C15F exm1440042 19 16847476 [T/C] NM_001007525 NWD1 EXON Missense_I38T exm1440043 19 16855265 [A/G] NM_001007525 NWD1 EXON Missense_I78V exm2228558 19 16855433 [T/G] NM_001007525 NWD1 EXON Nonsense_E134X exm1440048 19 16859970 [T/C] NM_001007525 NWD1 EXON Missense_R173W exm1440051 19 16859994 [T/C] NM_001007525 NWD1 EXON Missense_R181W exm1440052 19 16859995 [A/G] NM_001007525 NWD1 EXON Missense_R181Q exm1440053 19 16860001 [A/T] NM_001007525 NWD1 EXON Missense_Q183L exm1440060 19 16860081 [T/C] NM_001007525 NWD1 EXON Missense_R210W exm1440061 19 16860084 [T/C] NM_001007525 NWD1 EXON Missense_L211F exm1925882 19 16860087 [A/G] NM_001007525 NWD1 EXON Missense_A212T exm1440063 19 16860091 [T/A] NM_001007525 NWD1 EXON Missense_D213V exm1440064 19 16860096 [T/C] NM_001007525 NWD1 EXON Missense_C215R exm1440067 19 16860105 [A/G] NM_001007525 NWD1 EXON Missense_A218T exm1440069 19 16860181 [A/G] NM_001007525 NWD1 EXON Missense_R243H exm1440071 19 16860198 [A/G] NM_001007525 NWD1 EXON Missense_D249N exm1440072 19 16860228 [A/G] NM_001007525 NWD1 EXON Missense_A259T exm2228559 19 16860271 [T/C] NM_001007525 NWD1 EXON Missense_A273V exm2253685 19 16860329 [A/G] NM_001007525 NWD1 EXON Synonymous_A292A exm1440080 19 16860370 [T/C] NM_001007525 NWD1 EXON Missense_S306L exm1440083 19 16860397 [A/G] NM_001007525 NWD1 EXON Missense_R315H exm1440089 19 16860495 [A/T] NM_001007525 NWD1 EXON Missense_T348S exm1440090 19 16860512 [C/G] NM_001007525 NWD1 EXON Missense_K353N exm1440094 19 16860558 [A/G] NM_001007525 NWD1 EXON Missense_V369I exm1440101 19 16860685 [T/C] NM_001007525 NWD1 EXON Missense_T411I exm1440114 19 16860868 [T/C] NM_001007525 NWD1 EXON Missense_A472V exm1440118 19 16860895 [A/G] NM_001007525 NWD1 EXON Missense_R481Q exm1440126 19 16861056 [T/C] NM_001007525 NWD1 EXON Missense_R535W exm1440127 19 16861057 [A/G] NM_001007525 NWD1 EXON Missense_R535Q exm1440129 19 16861084 [A/G] NM_001007525 NWD1 EXON Missense_R544Q exm1440131 19 16861141 [T/C] NM_001007525 NWD1 EXON Missense_T563M exm1440134 19 16861188 [A/G] NM_001007525 NWD1 EXON Missense_V579M exm1440144 19 16872833 [A/G] NM_001007525 NWD1 EXON Missense_E673K exm1440149 19 16872936 [A/G] NM_001007525 NWD1 EXON Missense_N707S exm1440154 19 16874646 [T/C] NM_001007525 NWD1 EXON Missense_P714L exm1440156 19 16874672 [T/G] NM_001007525 NWD1 EXON Missense_V723F exm1440160 19 16874745 [A/G] NM_001007525 NWD1 EXON Missense_Q747R exm1440176 19 16884009 [G/C] NM_001007525 NWD1 EXON Missense_G828A exm1440179 19 16884055 [C/G] NM_001007525 NWD1 EXON Missense_H843Q exm1440183 19 16884122 [A/G] NM_001007525 NWD1 EXON Missense_G866S exm1440189 19 16890243 [G/C] NM_001007525 NWD1 EXON Missense_Q900E exm1440191 19 16890268 [A/G] NM_001007525 NWD1 EXON Missense_G908E exm1440197 19 16899834 [A/G] NM_001007525 NWD1 EXON Missense_A925T exm1440198 19 16899838 [A/T] NM_001007525 NWD1 EXON Missense_N926I exm1440201 19 16899864 [A/C] NM_001007525 NWD1 EXON Missense_H935N exm1440202 19 16899865 [A/G] NM_001007525 NWD1 EXON Missense_H935R exm1440204 19 16899930 [A/G] NM_001007525 NWD1 EXON Missense_A957T exm1440207 19 16899997 [T/C] NM_001007525 NWD1 EXON Missense_S979L exm1440210 19 16902189 [A/G] NM_001007525 NWD1 EXON Missense_E990G exm1440211 19 16902192 [T/C] NM_001007525 NWD1 EXON Missense_P991L exm1440224 19 16908565 [A/G] NM_001007525 NWD1 EXON Missense_I1109M exm1440227 19 16908593 [T/C] NM_001007525 NWD1 EXON Nonsense_R1119X exm1440231 19 16908639 [T/C] NM_001007525 NWD1 EXON Missense_A1134V exm1925911 19 16908653 [A/G] NM_001007525 NWD1 EXON Missense_E1139K exm1440234 19 16908687 [T/C] NM_001007525 NWD1 EXON Missense_A1150V exm1440235 19 16908698 [A/G] NM_001007525 NWD1 Silent exm1440242 19 16910775 [A/G] NM_001007525 NWD1 EXON Missense_G1180S exm1440243 19 16910778 [A/G] NM_001007525 NWD1 EXON Missense_G1181R exm1440247 19 16910871 [C/G] NM_001007525 NWD1 EXON Missense_L1212V exm1440257 19 16918459 [T/C] NM_001007525 NWD1 EXON Missense_R1267C exm1440258 19 16918460 [A/G] NM_001007525 NWD1 EXON Missense_R1267H exm1440263 19 16918528 [T/G] NM_001007525 NWD1 EXON Missense_V1290L exm1440265 19 16918544 [A/C] NM_001007525 NWD1 EXON Missense_P1295H exm1440268 19 16918549 [A/G] NM_001007525 NWD1 EXON Missense_E1297K exm1440270 19 16918562 [G/C] NM_001007525 NWD1 EXON Missense_A1301G exm1440272 19 16918593 [T/G] NM_001007525 NWD1 EXON Missense_E1311D exm1440279 19 16918669 [A/G] NM_001007525 NWD1 EXON Missense_D1337N exm1440282 19 16918720 [A/G] NM_001007525 NWD1 EXON Missense_V1354M exm1440286 19 16918744 [A/G] NM_001007525 NWD1 EXON Missense_V1362M exm1440289 19 16918828 [T/C] NM_001007525 NWD1 EXON Nonsense_R1390X exm1440293 19 16918918 [T/C] NM_001007525 NWD1 EXON Missense_R1420C exm2275050 19 16942368 [T/C] NM_015260 SIN3B EXON Synonymous_I97I exm1440324 19 16942442 [T/C] NM_015260 SIN3B EXON Missense_S122L exm1440325 19 16952586 [T/C] NM_015260 SIN3B EXON Missense_S130L exm1440340 19 16962292 [A/G] NM_015260 SIN3B EXON Missense_S266G exm1925943 19 16973182 [A/G] NM_015260 SIN3B EXON Missense_A360T exm1440363 19 16973224 [A/G] NM_015260 SIN3B EXON Missense_A374T exm1440365 19 16973234 [T/C] NM_015260 SIN3B EXON Missense_M377T exm1440371 19 16973705 [A/G] NM_015260 SIN3B EXON Nonsense_W426X exm1440392 19 16976399 [T/C] NM_015260 SIN3B EXON Missense_P553L exm1440423 19 16980566 [T/C] NM_015260 SIN3B EXON Missense_P733L exm1440429 19 16980649 [T/C] NM_015260 SIN3B EXON Missense_P761S exm1440444 19 16982121 [A/G] NM_015260 SIN3B EXON Missense_Q867R exm1440462 19 16987312 [T/C] NM_015260 SIN3B EXON Missense_R960C exm2253686 19 16987338 [T/C] NM_015260 SIN3B EXON Synonymous_I968I exm1440471 19 16988406 [G/C] NM_015260 SIN3B EXON Missense_S1002R exm1925979 19 16989010 [T/C] NM_015260 SIN3B EXON Missense_R1023C exm1440479 19 16989080 [T/G] NM_015260 SIN3B EXON Missense_V1046G exm1440485 19 16989103 [A/G] NM_015260 SIN3B EXON Missense_V1054M exm1440498 19 16989476 [A/G] NM_015260 SIN3B EXON Missense_V1143M exm1440516 19 17000414 [A/G] NM_003950 F2RL3 EXON Missense_R47H exm1440524 19 17000585 [T/C] NM_003950 F2RL3 EXON Missense_T104M exm1440526 19 17000611 [A/G] NM_003950 F2RL3 EXON Missense_M113V exm1440528 19 17000632 [A/G] NM_003950 F2RL3 EXON Missense_A120T exm2275051 19 17000960 [A/G] NM_003950 F2RL3 EXON Missense_H229R exm1440558 19 17001002 [T/C] NM_003950 F2RL3 EXON Missense_P243L exm1440570 19 17001203 [T/C] NM_003950 F2RL3 EXON Missense_P310L exm1440572 19 17001214 [A/G] NM_003950 F2RL3 EXON Missense_A314T exm1440576 19 17001259 [A/T] NM_003950 F2RL3 EXON Missense_S329C exm1440580 19 17001320 [A/G] NM_003950 F2RL3 EXON Missense_D349G exm1440581 19 17001325 [T/G] NM_003950 F2RL3 EXON Missense_V351L exm-rs773901 19 17003789 [T/G] NM_015692 CPAMD8 EXON Silent exm1440586 19 17003939 [T/C] NM_015692 CPAMD8 EXON Missense_N1927D exm1440593 19 17004116 [T/C] NM_015692 CPAMD8 EXON Missense_G1868R exm1440614 19 17008607 [C/G] NM_015692 CPAMD8 EXON Missense_E1701Q exm1440624 19 17010308 [T/C] NM_015692 CPAMD8 EXON Missense_R1656Q exm1440625 19 17010311 [T/C] NM_015692 CPAMD8 EXON Missense_R1655H exm1440630 19 17012045 [T/C] NM_015692 CPAMD8 EXON Missense_R1630Q exm1926017 19 17013484 [T/C] NM_015692 CPAMD8 EXON Missense_K1601E exm1440636 19 17013521 [T/A] NM_015692 CPAMD8 EXON Missense_D1588E exm1440641 19 17013582 [A/G] NM_015692 CPAMD8 EXON Missense_P1568L exm1440646 19 17013655 [A/C] NM_015692 CPAMD8 EXON Missense_V1544L exm1440658 19 17014633 [T/C] NM_015692 CPAMD8 EXON Missense_Y1476C exm1926025 19 17014658 [T/C] NM_015692 CPAMD8 EXON Missense_V1468M exm1440666 19 17015288 [A/C] NM_015692 CPAMD8 EXON Missense_V1415F exm1440681 19 17017878 [A/G] NM_015692 CPAMD8 EXON Missense_A1351V exm1440690 19 17025292 [A/G] NM_015692 CPAMD8 EXON Missense_T1315I exm1440703 19 17025594 [A/G] NM_015692 CPAMD8 EXON Missense_A1267V exm1440704 19 17025595 [T/C] NM_015692 CPAMD8 EXON Missense_A1267T exm1440719 19 17036087 [T/C] NM_015692 CPAMD8 EXON Missense_V1203I exm1440742 19 17039768 [T/C] NM_015692 CPAMD8 EXON Missense_R1090H exm1440743 19 17039769 [T/G] NM_015692 CPAMD8 EXON Missense_R1090S exm1926053 19 17039921 [T/C] NM_015692 CPAMD8 EXON Missense_Q1039R exm1440752 19 17039946 [A/G] NM_015692 CPAMD8 EXON Missense_R1031C exm1440755 19 17039982 [A/G] NM_015692 CPAMD8 EXON Missense_R1019C exm1440756 19 17039991 [A/G] NM_015692 CPAMD8 EXON Missense_R1016C exm1440766 19 17049243 [A/G] NM_015692 CPAMD8 EXON Missense_P983L exm1440769 19 17056375 [T/C] NM_015692 CPAMD8 EXON Missense_R973H exm1440784 19 17057937 [T/C] NM_015692 CPAMD8 EXON Missense_E917G exm1440786 19 17057960 [A/C] NM_015692 CPAMD8 EXON Missense_M909I exm1440790 19 17062789 [T/G] NM_015692 CPAMD8 EXON Missense_T880N exm1440793 19 17062820 [T/C] NM_015692 CPAMD8 EXON Missense_I870V exm2253687 19 17062902 [T/C] NM_015692 CPAMD8 EXON Synonymous_E842E exm1440803 19 17081707 [T/G] NM_015692 CPAMD8 EXON Missense_P783H exm1440812 19 17081798 [A/G] NM_015692 CPAMD8 EXON Missense_R753W exm1440813 19 17081817 [T/G] NM_015692 CPAMD8 EXON Missense_D746E exm1440818 19 17085907 [A/G] NM_015692 CPAMD8 EXON Synonymous_T737T exm1440840 19 17088196 [C/G] NM_015692 CPAMD8 EXON Missense_E627D exm1440882 19 17104239 [T/C] NM_015692 CPAMD8 EXON Missense_H465R exm1440890 19 17104386 [A/G] NM_015692 CPAMD8 EXON Missense_S416F exm1440913 19 17108118 [T/C] NM_015692 CPAMD8 EXON Missense_V347M exm1440914 19 17108127 [T/C] NM_015692 CPAMD8 EXON Missense_D344N exm1440917 19 17108136 [A/G] NM_015692 CPAMD8 EXON Missense_R341W exm1440926 19 17111297 [A/G] NM_015692 CPAMD8 EXON Missense_M312T exm1440934 19 17113104 [T/C] NM_015692 CPAMD8 EXON Missense_A291T exm2253689 19 17113147 [A/G] NM_015692 CPAMD8 EXON Synonymous_F276F exm1440949 19 17119315 [T/C] NM_015692 CPAMD8 EXON Missense_G234S exm1440950 19 17119344 [T/C] NM_015692 CPAMD8 EXON Missense_E224G exm1440951 19 17119353 [T/C] NM_015692 CPAMD8 EXON Missense_R221Q exm1440957 19 17122309 [T/C] NM_015692 CPAMD8 EXON Missense_T198A exm1440960 19 17122423 [A/C] NM_015692 CPAMD8 EXON Missense_V185L exm1440975 19 17132869 [A/G] NM_015692 CPAMD8 EXON Missense_P119L exm1440982 19 17132956 [A/G] NM_015692 CPAMD8 EXON Missense_A90V exm1440994 19 17160720 [A/G] NM_033417,NM_001011699 HAUS8,HAUS8 EXON Missense_P399L,Missense_P398L exm1441000 19 17160801 [A/G] NM_033417,NM_001011699 HAUS8,HAUS8 EXON Missense_P372L,Missense_P371L exm1441001 19 17160808 [T/C] NM_033417,NM_001011699 HAUS8,HAUS8 EXON Missense_D370N,Missense_D369N exm1441003 19 17160825 [A/G] NM_033417,NM_001011699 HAUS8,HAUS8 EXON Missense_T364M,Missense_T363M exm1441008 19 17160894 [A/G] NM_033417,NM_001011699 HAUS8,HAUS8 EXON Missense_A341V,Missense_A340V exm1441022 19 17166713 [T/C] NM_033417,NM_001011699 HAUS8,HAUS8 EXON Missense_V249M,Missense_V248M exm1441023 19 17166745 [A/G] NM_033417,NM_001011699 HAUS8,HAUS8 EXON Missense_T238M,Missense_T237M exm1441024 19 17166752 [T/A] NM_033417,NM_001011699 HAUS8,HAUS8 EXON Missense_F236I,Missense_F235I exm1441029 19 17169415 [A/G] NM_033417,NM_001011699 HAUS8,HAUS8 EXON Missense_R197C,Missense_R196C exm1441034 19 17169637 [A/G] NM_033417,NM_001011699 HAUS8,HAUS8 EXON Missense_T157M,Missense_T156M exm1441035 19 17169660 [T/C] NM_033417,NM_001011699 HAUS8,HAUS8 EXON Missense_M149I,Missense_M148I exm1441039 19 17170381 [A/G] NM_033417,NM_001011699 HAUS8,HAUS8 EXON Missense_R136W,Missense_R135W exm1441040 19 17170440 [A/G] NM_033417,NM_001011699 HAUS8,HAUS8 EXON Missense_T116M,Missense_T115M exm1441044 19 17170885 [T/C] NM_033417,NM_001011699 HAUS8,HAUS8 EXON Missense_G83R,Missense_G82R exm1441049 19 17173588 [A/G] NM_033417,NM_001011699 HAUS8,HAUS8 EXON Missense_A50V,Missense_A50V exm1441057 19 17184132 [T/C] NM_033417,NM_001011699 HAUS8,HAUS8 EXON Missense_G15S,Missense_G15S exm1441068 19 17212570 [A/G] NM_004145,NM_001130065 MYO9B,MYO9B EXON Missense_A15T,Missense_A15T exm1926160 19 17212571 [T/C] NM_004145,NM_001130065 MYO9B,MYO9B EXON Missense_A15V,Missense_A15V exm1441072 19 17212661 [T/C] NM_004145,NM_001130065 MYO9B,MYO9B EXON Missense_S45L,Missense_S45L exm1441074 19 17212694 [A/G] NM_004145,NM_001130065 MYO9B,MYO9B EXON Missense_R56Q,Missense_R56Q exm1441082 19 17212814 [A/G] NM_004145,NM_001130065 MYO9B,MYO9B EXON Missense_Q96R,Missense_Q96R exm1441086 19 17212928 [A/G] NM_004145,NM_001130065 MYO9B,MYO9B EXON Missense_R134H,Missense_R134H exm1441091 19 17213045 [A/G] NM_004145,NM_001130065 MYO9B,MYO9B EXON Missense_Q173R,Missense_Q173R exm1441094 19 17213137 [A/G] NM_004145,NM_001130065 MYO9B,MYO9B EXON Missense_E204K,Missense_E204K exm1441095 19 17213177 [T/C] NM_004145,NM_001130065 MYO9B,MYO9B EXON Missense_A217V,Missense_A217V exm2253691 19 17239566 [A/G] NM_004145,NM_001130065 MYO9B,MYO9B Silent,Silent exm1441108 19 17256286 [A/G] NM_004145,NM_001130065 MYO9B,MYO9B EXON Missense_S307N,Missense_S307N exm1441113 19 17264841 [T/C] NM_004145,NM_001130065 MYO9B,MYO9B EXON Missense_L355F,Missense_L355F exm1441114 19 17264849 [T/G] NM_004145,NM_001130065 MYO9B,MYO9B EXON Missense_Q357H,Missense_Q357H exm2253692 19 17278842 [A/G] NM_004145,NM_001130065 MYO9B,MYO9B EXON Synonymous_T587T,Synonymous_T587T exm-rs2279008 19 17283303 [T/C] NM_004145,NM_001130065 MYO9B,MYO9B Silent,Silent exm1441150 19 17283745 [T/C] NM_004145,NM_001130065 MYO9B,MYO9B EXON Missense_R705W,Missense_R705W exm1441151 19 17283746 [A/G] NM_004145,NM_001130065 MYO9B,MYO9B EXON Missense_R705Q,Missense_R705Q exm1441154 19 17286484 [T/C] NM_004145,NM_001130065 MYO9B,MYO9B EXON Missense_P718L,Missense_P718L exm1441157 19 17286520 [A/G] NM_004145,NM_001130065 MYO9B,MYO9B EXON Missense_G730E,Missense_G730E exm1441158 19 17286535 [T/C] NM_004145,NM_001130065 MYO9B,MYO9B EXON Missense_S735L,Missense_S735L exm1441161 19 17291736 [T/C] NM_004145,NM_001130065 MYO9B,MYO9B EXON Synonymous_R740R,Synonymous_R740R exm1441164 19 17291798 [A/G] NM_004145,NM_001130065 MYO9B,MYO9B EXON Missense_R761H,Missense_R761H exm1441169 19 17295710 [A/T] NM_004145,NM_001130065 MYO9B,MYO9B EXON Missense_S804C,Missense_S804C exm1441175 19 17298837 [A/G] NM_004145,NM_001130065 MYO9B,MYO9B EXON Missense_A891T,Missense_A891T exm1441188 19 17303774 [T/G] NM_004145,NM_001130065 MYO9B,MYO9B EXON Missense_S1011A,Missense_S1011A exm1441193 19 17305444 [A/G] NM_004145,NM_001130065 MYO9B,MYO9B EXON Missense_E1070K,Missense_E1070K exm1441201 19 17305607 [A/G] NM_004145,NM_001130065 MYO9B,MYO9B EXON Missense_E1124G,Missense_E1124G exm1441209 19 17305781 [T/G] NM_004145,NM_001130065 MYO9B,MYO9B EXON Missense_V1182G,Missense_V1182G exm1441211 19 17305877 [T/C] NM_004145,NM_001130065 MYO9B,MYO9B EXON Missense_S1214F,Missense_S1214F exm1441219 19 17306074 [A/G] NM_004145,NM_001130065 MYO9B,MYO9B EXON Missense_G1280S,Missense_G1280S exm1441223 19 17306142 [C/G] NM_004145,NM_001130065 MYO9B,MYO9B EXON Missense_D1302E,Missense_D1302E exm1441229 19 17306248 [T/C] NM_004145,NM_001130065 MYO9B,MYO9B EXON Missense_H1338Y,Missense_H1338Y exm1441235 19 17309006 [T/C] NM_004145,NM_001130065 MYO9B,MYO9B EXON Missense_T1376I,Missense_T1376I exm1441238 19 17309014 [A/G] NM_004145,NM_001130065 MYO9B,MYO9B EXON Missense_G1379R,Missense_G1379R exm1441243 19 17309096 [T/C] NM_004145,NM_001130065 MYO9B,MYO9B EXON Missense_P1406L,Missense_P1406L exm1441246 19 17311226 [A/G] NM_004145,NM_001130065 MYO9B,MYO9B EXON Missense_G1455S,Missense_G1455S exm1441256 19 17312833 [G/C] NM_004145,NM_001130065 MYO9B,MYO9B EXON Synonymous_P1554P,Synonymous_P1554P exm1441266 19 17313033 [A/G] NM_004145,NM_001130065 MYO9B,MYO9B EXON Missense_N1586S,Missense_N1586S exm1441280 19 17316101 [A/G] NM_004145,NM_001130065 MYO9B,MYO9B EXON Missense_V1674M,Missense_V1674M exm1441281 19 17316132 [A/C] NM_004145,NM_001130065 MYO9B,MYO9B EXON Missense_T1684N,Missense_T1684N exm1441283 19 17316137 [A/G] NM_004145,NM_001130065 MYO9B,MYO9B EXON Missense_G1686R,Missense_G1686R exm1441285 19 17316782 [T/C] NM_004145,NM_001130065 MYO9B,MYO9B EXON Missense_V1693A,Missense_V1693A exm1441288 19 17316802 [A/G] NM_004145,NM_001130065 MYO9B,MYO9B EXON Missense_V1700M,Missense_V1700M exm1441291 19 17316826 [A/G] NM_004145,NM_001130065 MYO9B,MYO9B EXON Missense_D1708N,Missense_D1708N exm1441292 19 17316832 [A/G] NM_004145,NM_001130065 MYO9B,MYO9B EXON Missense_A1710T,Missense_A1710T exm1441300 19 17317125 [C/G] NM_004145,NM_001130065 MYO9B,MYO9B EXON Missense_R1776G,Missense_R1776G exm1441304 19 17317548 [A/G] NM_004145,NM_001130065 MYO9B,MYO9B EXON Missense_E1816G,Missense_E1816G exm1441327 19 17321596 [A/G] NM_004145,NM_001130065 MYO9B,MYO9B EXON Missense_G1957S,Missense_G1957S exm1441338 19 17322560 [A/G] NM_004145,NM_001130065 MYO9B,MYO9B EXON Missense_R2012Q,Missense_R2012Q exm1441340 19 17322574 [A/G] NM_004145,NM_001130065 MYO9B,MYO9B EXON Missense_A2017T,Missense_A2017T exm1441341 19 17322578 [T/C] NM_004145,NM_001130065 MYO9B,MYO9B EXON Missense_S2018L,Missense_S2018L exm1441356 19 17322803 [T/C] NM_004145,NM_001130065 MYO9B,MYO9B EXON Missense_T2053M,Silent exm1441360 19 17322899 [T/C] NM_004145,NM_001130065 MYO9B,MYO9B EXON Missense_P2085L,Silent exm1441370 19 17323085 [T/G] NM_004145,NM_001130065 MYO9B,MYO9B EXON Missense_C2147F,Silent exm2253693 19 17329186 [T/C] NM_018467 USE1 EXON Synonymous_D136D exm1441396 19 17329187 [A/G] NM_018467 USE1 EXON Missense_V137I exm1441398 19 17330035 [T/G] NM_018467 USE1 EXON Missense_S146A exm1441399 19 17330060 [T/C] NM_018467 USE1 EXON Missense_L154S exm2228571 19 17330172 [G/C] NM_018467 USE1 EXON Missense_Q191H exm1441409 19 17330492 [T/C] NM_018467 USE1 EXON Missense_T217M exm1441411 19 17330525 [A/G] NM_018467 USE1 EXON Missense_K228R exm1441424 19 17337066 [A/C] NM_024578 OCEL1 EXON Missense_P4T exm1441426 19 17337103 [T/C] NM_024578 OCEL1 EXON Missense_S16L exm1441429 19 17337123 [T/C] NM_024578 OCEL1 EXON Nonsense_Q23X exm1441440 19 17337802 [A/G] NM_024578 OCEL1 Silent exm1441444 19 17337882 [G/C] NM_024578 OCEL1 EXON Missense_A109G exm1441451 19 17337927 [T/C] NM_024578 OCEL1 EXON Missense_A124V exm1926319 19 17338002 [A/G] NM_024578 OCEL1 EXON Missense_Y149C exm1441465 19 17338716 [C/G] NM_024578 OCEL1 EXON Missense_G174R exm1441469 19 17338741 [A/C] NM_024578 OCEL1 EXON Missense_E182A exm1441478 19 17339076 [A/C] NM_024578 OCEL1 EXON Missense_Q210H exm1441485 19 17339687 [T/C] NM_024578 OCEL1 EXON Nonsense_Q250X exm1441487 19 17339696 [A/G] NM_024578 OCEL1 EXON Missense_D253N exm1441488 19 17339699 [A/G] NM_024578 OCEL1 EXON Missense_D254N exm1441529 19 17351567 [A/G] NM_005234 NR2F6 EXON Missense_R96C exm1441531 19 17355759 [T/G] NM_005234 NR2F6 EXON Missense_T91P exm1441545 19 17361116 [A/G] NM_031941 USHBP1 EXON Missense_A677V exm1441548 19 17361203 [T/C] NM_031941 USHBP1 EXON Missense_R648Q exm1926349 19 17361222 [G/C] NM_031941 USHBP1 EXON Missense_A642P exm1441552 19 17361223 [A/G] NM_031941 USHBP1 EXON Synonymous_S641S exm1441558 19 17362479 [A/G] NM_031941 USHBP1 EXON Missense_R612C exm1441576 19 17366291 [T/C] NM_031941 USHBP1 EXON Missense_R532Q exm1441580 19 17366334 [A/G] NM_031941 USHBP1 EXON Nonsense_R518X exm1441583 19 17366373 [A/G] NM_031941 USHBP1 EXON Missense_R505C exm1441585 19 17366390 [T/C] NM_031941 USHBP1 EXON Missense_R499Q exm1441589 19 17367327 [G/C] NM_031941 USHBP1 EXON Missense_P475A exm2253694 19 17367376 [T/C] NM_031941 USHBP1 EXON Synonymous_A458A exm1441593 19 17367435 [T/C] NM_031941 USHBP1 EXON Missense_M439V exm1441599 19 17369020 [A/C] NM_031941 USHBP1 Silent exm1441605 19 17369127 [T/C] NM_031941 USHBP1 EXON Missense_E372K exm2228572 19 17370182 [T/C] NM_031941 USHBP1 EXON Missense_Y321C exm1926374 19 17370409 [A/G] NM_031941 USHBP1 EXON Missense_R301W exm1441621 19 17370469 [A/G] NM_031941 USHBP1 EXON Missense_L281F exm1441624 19 17370511 [A/G] NM_031941 USHBP1 EXON Missense_R267W exm1441625 19 17370531 [A/G] NM_031941 USHBP1 EXON Missense_S260F exm1441631 19 17373368 [T/C] NM_031941 USHBP1 EXON Missense_Q212R exm2253695 19 17373373 [T/C] NM_031941 USHBP1 EXON Synonymous_T210T exm1441633 19 17373407 [A/G] NM_031941 USHBP1 EXON Missense_A199V exm1441634 19 17373416 [T/C] NM_031941 USHBP1 EXON Missense_R196H exm1441636 19 17373434 [C/G] NM_031941 USHBP1 EXON Missense_R190P exm1441643 19 17373566 [A/G] NM_031941 USHBP1 EXON Missense_P146L exm1441657 19 17373780 [T/C] NM_031941 USHBP1 EXON Missense_G75R exm1926391 19 17374917 [T/C] NM_031941 USHBP1 EXON Missense_A33T exm1441665 19 17374947 [T/G] NM_031941 USHBP1 EXON Missense_P23T exm1926392 19 17375087 [T/G] NM_031941 USHBP1 EXON Missense_P8T exm1441690 19 17382463 [A/G] NM_014173,NM_001033549 BABAM1,BABAM1 EXON Missense_G115S,Missense_G115S exm1441704 19 17387369 [A/G] NM_014173,NM_001033549 BABAM1,BABAM1 EXON Missense_R212H,Missense_R212H exm1441706 19 17387390 [A/G] NM_014173,NM_001033549 BABAM1,BABAM1 EXON Missense_R219H,Missense_R219H exm1441710 19 17387665 [A/G] NM_014173,NM_001033549 BABAM1,BABAM1 EXON Missense_V245I,Missense_V245I exm1441715 19 17389688 [A/G] NM_014173,NM_001033549 BABAM1,BABAM1 EXON Missense_K274R,Missense_K274R exm-rs8170 19 17389704 [A/G] NM_014173,NM_001033549 BABAM1,BABAM1 EXON Synonymous_K279K,Synonymous_K279K exm1441731 19 17392894 [A/G] NM_152363 ANKLE1 EXON Missense_A31T exm1441736 19 17393015 [T/C] NM_152363 ANKLE1 EXON Missense_A71V exm1441746 19 17393769 [T/C] NM_152363 ANKLE1 EXON Missense_R140W exm1441753 19 17394051 [T/C] NM_152363 ANKLE1 EXON Missense_P160S exm1441755 19 17394098 [G/C] NM_152363 ANKLE1 EXON Missense_C175W exm1441757 19 17394124 [T/G] NM_152363 ANKLE1 EXON Missense_L184W exm1441762 19 17394228 [A/G] NM_152363 ANKLE1 EXON Missense_A219T exm1441763 19 17394237 [A/G] NM_152363 ANKLE1 EXON Missense_V222I exm1441764 19 17394240 [A/C] NM_152363 ANKLE1 EXON Missense_T223P exm1441769 19 17394321 [G/C] NM_152363 ANKLE1 EXON Missense_G250R exm1441772 19 17394375 [G/C] NM_152363 ANKLE1 EXON Missense_E268Q exm1441778 19 17394504 [A/C] NM_152363 ANKLE1 EXON Missense_T311P exm1441781 19 17394523 [A/G] NM_152363 ANKLE1 EXON Missense_C317Y exm1441782 19 17394594 [A/G] NM_152363 ANKLE1 EXON Missense_A341T exm1441784 19 17394633 [T/C] NM_152363 ANKLE1 EXON Missense_R354W exm1441787 19 17394637 [A/C] NM_152363 ANKLE1 EXON Missense_H355P exm1441789 19 17394700 [A/C] NM_152363 ANKLE1 EXON Missense_N376T exm1926431 19 17394737 [A/C] NM_152363 ANKLE1 EXON Nonsense_Y388X exm1441790 19 17394770 [T/G] NM_152363 ANKLE1 EXON Synonymous_P399P exm1441791 19 17394942 [T/C] NM_152363 ANKLE1 EXON Missense_R415W exm1441794 19 17394981 [A/G] NM_152363 ANKLE1 EXON Missense_A428T exm1441796 19 17395003 [A/G] NM_152363 ANKLE1 EXON Missense_Q435R exm1441801 19 17395038 [A/G] NM_152363 ANKLE1 EXON Missense_V447M exm1441814 19 17396307 [T/C] NM_152363 ANKLE1 EXON Missense_R482C exm1441820 19 17396344 [A/G] NM_152363 ANKLE1 EXON Missense_R494Q exm1441821 19 17396370 [G/C] NM_152363 ANKLE1 EXON Missense_L503V exm1441826 19 17396523 [T/G] NM_152363 ANKLE1 EXON Missense_L524V exm1441827 19 17396542 [A/G] NM_152363 ANKLE1 EXON Missense_G530D exm1441830 19 17396550 [A/G] NM_152363 ANKLE1 EXON Missense_V533I exm1441831 19 17396557 [C/G] NM_152363 ANKLE1 EXON Missense_S535C exm1441832 19 17396563 [A/G] NM_152363 ANKLE1 EXON Missense_H537R exm1441834 19 17396577 [A/G] NM_152363 ANKLE1 EXON Missense_V542M exm1441835 19 17396584 [T/C] NM_152363 ANKLE1 EXON Missense_A544V exm1441839 19 17396623 [A/C] NM_152363 ANKLE1 EXON Missense_A557D exm1441850 19 17397353 [C/G] NM_152363 ANKLE1 EXON Missense_R614G exm1441851 19 17397354 [A/G] NM_152363 ANKLE1 EXON Missense_R614Q exm1441860 19 17403508 [T/G] NM_024527 ABHD8 EXON Missense_P428T exm1441880 19 17405602 [A/C] NM_024527 ABHD8 EXON Missense_V272L exm1441910 19 17412218 [T/C] NM_024527 ABHD8 EXON Missense_G70R exm1441917 19 17412347 [T/C] NM_024527 ABHD8 EXON Missense_V27I exm1441918 19 17412352 [T/C] NM_024527 ABHD8 EXON Missense_E25G exm1441919 19 17412365 [T/C] NM_024527 ABHD8 EXON Missense_V21M exm1441921 19 17412377 [A/G] NM_024527 ABHD8 EXON Missense_P17S exm1441939 19 17417111 [C/G] NM_023937 MRPL34 EXON Missense_R68G exm1441941 19 17417130 [T/C] NM_023937 MRPL34 EXON Missense_A74V exm1441974 19 17435547 [A/G] NM_020959 ANO8 EXON Missense_R1104W exm1441979 19 17435651 [A/G] NM_020959 ANO8 EXON Missense_A1069V exm1441990 19 17435888 [A/G] NM_020959 ANO8 EXON Missense_S990L exm1441999 19 17436111 [A/G] NM_020959 ANO8 EXON Missense_H916Y exm1442008 19 17438569 [T/C] NM_020959 ANO8 EXON Missense_D783N exm2253697 19 17438636 [A/G] NM_020959 ANO8 EXON Synonymous_L760L exm1442026 19 17439209 [T/G] NM_020959 ANO8 EXON Missense_A663E exm1442029 19 17439243 [T/C] NM_020959 ANO8 EXON Missense_G652R exm1442036 19 17439378 [A/G] NM_020959 ANO8 EXON Missense_L607F exm1442061 19 17441660 [T/C] NM_020959 ANO8 EXON Missense_E324K exm1442106 19 17445855 [G/C] NM_001195422 GTPBP3 EXON Missense_V15L exm1442120 19 17449052 [T/C] NM_001195422,NM_133644,NM_001128855,NM_032620 GTPBP3,GTPBP3,GTPBP3,GTPBP3 EXON Missense_L119F,Missense_L97F,Missense_L97F,Missense_L97F exm1442125 19 17449228 [T/C] NM_001195422,NM_133644,NM_001128855,NM_032620 GTPBP3,GTPBP3,GTPBP3,GTPBP3 EXON Missense_P141L,Missense_P119L,Missense_P119L,Missense_P119L exm1442130 19 17449443 [A/G] NM_001195422,NM_133644,NM_001128855,NM_032620 GTPBP3,GTPBP3,GTPBP3,GTPBP3 EXON Missense_A184T,Missense_A162T,Missense_A162T,Missense_A162T exm1442136 19 17449524 [T/C] NM_001195422,NM_133644,NM_001128855,NM_032620 GTPBP3,GTPBP3,GTPBP3,GTPBP3 EXON Missense_R211C,Missense_R189C,Missense_R189C,Missense_R189C exm1442142 19 17449785 [A/G] NM_001195422,NM_133644,NM_001128855,NM_032620 GTPBP3,GTPBP3,GTPBP3,GTPBP3 EXON Missense_Y227C,Missense_Y205C,Missense_Y205C,Missense_Y205C exm1442152 19 17450016 [T/C] NM_001195422,NM_133644,NM_001128855,NM_032620 GTPBP3,GTPBP3,GTPBP3,GTPBP3 EXON Missense_V272A,Missense_V282A,Missense_V250A,Missense_V250A exm1442155 19 17450074 [T/C] NM_001195422,NM_133644,NM_001128855,NM_032620 GTPBP3,GTPBP3,GTPBP3,GTPBP3 EXON Synonymous_L291L,Synonymous_L301L,Synonymous_L269L,Synonymous_L269L exm1442177 19 17451883 [T/G] NM_001195422,NM_133644,NM_001128855,NM_032620 GTPBP3,GTPBP3,GTPBP3,GTPBP3 EXON Missense_M357I,Missense_M367I,Silent,Missense_M335I exm1926570 19 17451935 [A/G] NM_001195422,NM_133644,NM_001128855,NM_032620 GTPBP3,GTPBP3,GTPBP3,GTPBP3 EXON Missense_V375I,Missense_V385I,Missense_V332I,Missense_V353I exm1442180 19 17451962 [T/C] NM_001195422,NM_133644,NM_001128855,NM_032620 GTPBP3,GTPBP3,GTPBP3,GTPBP3 EXON Missense_P384S,Missense_P394S,Missense_P341S,Missense_P362S exm1442181 19 17451981 [A/G] NM_001195422,NM_133644,NM_001128855,NM_032620 GTPBP3,GTPBP3,GTPBP3,GTPBP3 EXON Missense_R390H,Missense_R400H,Missense_R347H,Missense_R368H exm1442184 19 17452053 [G/C] NM_001195422,NM_133644,NM_001128855,NM_032620 GTPBP3,GTPBP3,GTPBP3,GTPBP3 EXON Missense_P414R,Missense_P424R,Missense_P371R,Missense_P392R exm1442188 19 17452287 [G/C] NM_001195422,NM_133644,NM_001128855,NM_032620 GTPBP3,GTPBP3,GTPBP3,GTPBP3 EXON Synonymous_V440V,Synonymous_V450V,Synonymous_V397V,Synonymous_V418V exm1442196 19 17452457 [C/G] NM_001195422,NM_133644,NM_001128855,NM_032620 GTPBP3,GTPBP3,GTPBP3,GTPBP3 EXON Missense_G497A,Missense_G507A,Missense_G454A,Missense_G475A exm1442204 19 17471346 [A/G] NM_031310 PLVAP EXON Missense_A438V exm1442213 19 17471634 [A/G] NM_031310 PLVAP EXON Missense_P396L exm1442215 19 17476145 [A/T] NM_031310 PLVAP EXON Missense_M377L exm1442216 19 17476153 [T/G] NM_031310 PLVAP EXON Missense_Q374P exm1442221 19 17476234 [A/G] NM_031310 PLVAP EXON Missense_A347V exm1442233 19 17476328 [A/G] NM_031310 PLVAP EXON Missense_R316W exm1442262 19 17476663 [T/C] NM_031310 PLVAP EXON Missense_R204Q exm1442268 19 17476700 [T/C] NM_031310 PLVAP EXON Missense_V192M exm1442272 19 17476933 [T/G] NM_031310 PLVAP EXON Missense_F147L exm1442284 19 17487896 [T/C] NM_031310 PLVAP EXON Missense_E68K exm1442293 19 17488043 [A/G] NM_031310 PLVAP EXON Missense_R19W exm1442300 19 17514611 [A/C] NM_004335 BST2 EXON Missense_V146L exm2253698 19 17514984 [A/G] NM_004335 BST2 EXON Synonymous_L123L exm1442316 19 17516225 [A/G] NM_004335 BST2 EXON Missense_R54W exm1442317 19 17516239 [T/C] NM_004335 BST2 EXON Missense_N49S exm1442321 19 17516363 [A/G] NM_004335 BST2 EXON Missense_Y8H exm1442328 19 17531171 [T/C] NM_138401 MVB12A EXON Missense_A47V exm1442338 19 17533171 [A/G] NM_138401 MVB12A EXON Missense_C106Y exm1442339 19 17533204 [T/C] NM_138401 MVB12A EXON Missense_T117M exm1442344 19 17533261 [A/G] NM_138401 MVB12A EXON Missense_R136Q exm1442347 19 17534351 [G/C] NM_138401 MVB12A EXON Missense_P153R exm1442349 19 17534384 [A/G] NM_138401 MVB12A EXON Missense_R164Q exm1442353 19 17534528 [T/C] NM_138401 MVB12A EXON Missense_A187V exm1442355 19 17534540 [T/G] NM_138401 MVB12A EXON Missense_G191V exm1926629 19 17534560 [T/C] NM_138401 MVB12A EXON Missense_R198W exm2228582 19 17534847 [T/C] NM_138401 MVB12A EXON Nonsense_R225X exm1442365 19 17535431 [T/C] NM_138401 MVB12A EXON Missense_A235V exm1442367 19 17535470 [T/C] NM_138401 MVB12A EXON Missense_A248V exm1442368 19 17535472 [A/G] NM_138401 MVB12A EXON Missense_D249N exm1442369 19 17535755 [A/G] NM_138401 MVB12A EXON Missense_V259M exm1442370 19 17535789 [G/C] NM_138401 MVB12A EXON Missense_P270R exm1442378 19 17547292 [A/G] NM_001190844 TMEM221 EXON Missense_M284T exm1442380 19 17547421 [A/G] NM_001190844 TMEM221 EXON Missense_A241V exm1442399 19 17566562 [A/G] NM_138454 NXNL1 EXON Missense_T178I exm1442400 19 17566610 [T/C] NM_138454 NXNL1 EXON Missense_N162S exm1442403 19 17566634 [T/A] NM_138454 NXNL1 EXON Missense_E154V exm1442414 19 17571397 [A/C] NM_138454 NXNL1 EXON Missense_M94I exm1442417 19 17571411 [A/G] NM_138454 NXNL1 EXON Missense_F90L exm1442423 19 17571489 [T/C] NM_138454 NXNL1 EXON Missense_E64K exm1442432 19 17571586 [C/G] NM_138454 NXNL1 EXON Missense_E31D exm-rs11666579 19 17590281 [T/G] NM_198580 SLC27A1 Silent exm1442452 19 17597439 [T/C] NM_198580 SLC27A1 EXON Missense_P79S exm1442461 19 17597661 [T/A] NM_198580 SLC27A1 EXON Missense_M153L exm1442466 19 17597765 [A/G] NM_198580 SLC27A1 EXON Synonymous_A187A exm1442502 19 17608143 [A/G] NM_198580 SLC27A1 EXON Missense_R359H exm1442508 19 17611142 [T/C] NM_198580 SLC27A1 EXON Missense_L421P exm1442523 19 17611408 [A/G] NM_198580 SLC27A1 EXON Missense_V480I exm1442530 19 17611563 [A/G] NM_198580 SLC27A1 EXON Missense_R505Q exm1442537 19 17611638 [A/G] NM_198580 SLC27A1 EXON Missense_R530H exm1442550 19 17615314 [T/C] NM_198580 SLC27A1 EXON Missense_R612C exm1442552 19 17615330 [A/G] NM_198580 SLC27A1 EXON Missense_R617Q exm1442553 19 17615351 [A/G] NM_198580 SLC27A1 EXON Missense_K624R exm1442554 19 17615414 [T/C] NM_198580 SLC27A1 EXON Missense_A645V exm1442567 19 17622737 [A/G] NM_012088 PGLS EXON Missense_D86N exm1442571 19 17627009 [C/G] NM_012088 PGLS EXON Missense_P106A exm1442577 19 17627068 [G/C] NM_012088 PGLS EXON Missense_D125E exm1442579 19 17628127 [A/G] NM_012088 PGLS EXON Missense_D143N exm1442588 19 17628574 [A/G] NM_012088 PGLS EXON Missense_R185H exm2253699 19 17628599 [G/C] NM_012088 PGLS EXON Synonymous_L193L exm1442593 19 17628615 [A/G] NM_012088 PGLS EXON Missense_V199I exm2228586 19 17628628 [T/C] NM_012088 PGLS EXON Missense_A203V exm1442599 19 17631811 [T/C] NM_012088 PGLS EXON Missense_T233I exm1442604 19 17631849 [T/C] NM_012088 PGLS EXON Missense_R246C exm1442615 19 17638121 [A/G] NM_001098524,NM_173544 FAM129C,FAM129C EXON Missense_G22E,Missense_G22E exm1442619 19 17638141 [A/G] NM_001098524,NM_173544 FAM129C,FAM129C EXON Missense_D29N,Missense_D29N exm1442620 19 17638144 [A/C] NM_001098524,NM_173544 FAM129C,FAM129C EXON Missense_S30R,Missense_S30R exm1442627 19 17641645 [A/G] NM_001098524,NM_173544 FAM129C,FAM129C EXON Missense_R77Q,Missense_R77Q exm1442630 19 17641686 [T/C] NM_001098524,NM_173544 FAM129C,FAM129C EXON Missense_R91C,Missense_R91C exm1442648 19 17644466 [T/G] NM_001098524,NM_173544 FAM129C,FAM129C EXON Missense_R159L,Missense_R159L exm1442653 19 17648208 [T/G] NM_001098524,NM_173544 FAM129C,FAM129C EXON Missense_D182Y,Missense_D182Y exm1442661 19 17648350 [T/C] NM_001098524,NM_173544 FAM129C,FAM129C Silent,Silent exm1442664 19 17650006 [A/G] NM_001098524,NM_173544 FAM129C,FAM129C EXON Missense_V246I,Missense_V246I exm1442668 19 17650165 [A/G] NM_001098524,NM_173544 FAM129C,FAM129C EXON Missense_A272T,Missense_A272T exm1442670 19 17650220 [T/C] NM_001098524,NM_173544 FAM129C,FAM129C EXON Missense_L290P,Missense_L290P exm1442680 19 17651201 [T/C] NM_001098524,NM_173544 FAM129C,FAM129C EXON Missense_T358M,Missense_T358M exm1442681 19 17651225 [T/C] NM_001098524,NM_173544 FAM129C,FAM129C EXON Missense_S366L,Missense_S366L exm1442695 19 17652979 [T/C] NM_001098524,NM_173544 FAM129C,FAM129C EXON Missense_A433V,Missense_A433V exm1442697 19 17653012 [A/G] NM_001098524,NM_173544 FAM129C,FAM129C EXON Missense_R444Q,Missense_R444Q exm1442703 19 17654181 [T/C] NM_001098524,NM_173544 FAM129C,FAM129C EXON Missense_T493M,Missense_T493M exm1442711 19 17654384 [T/G] NM_001098524,NM_173544 FAM129C,FAM129C EXON Missense_G531C,Missense_G531C exm1442713 19 17654387 [G/C] NM_001098524,NM_173544 FAM129C,FAM129C EXON Missense_L532V,Missense_L532V exm1442715 19 17654420 [T/C] NM_001098524,NM_173544 FAM129C,FAM129C EXON Missense_L543F,Missense_L543F exm1442720 19 17657525 [T/G] NM_001098524,NM_173544 FAM129C,FAM129C EXON Missense_A560S,Missense_A560S exm1926723 19 17657540 [T/G] NM_001098524,NM_173544 FAM129C,FAM129C EXON Missense_A565S,Missense_A565S exm1442726 19 17660286 [A/C] NM_001098524,NM_173544 FAM129C,FAM129C EXON Missense_S598Y,Missense_S598Y exm1442727 19 17660300 [A/G] NM_001098524,NM_173544 FAM129C,FAM129C EXON Missense_G603S,Missense_G603S exm1442732 19 17662616 [A/G] NM_001098524,NM_173544 FAM129C,FAM129C EXON Missense_R622Q,Silent exm1442741 19 17664266 [A/G] NM_173544 FAM129C EXON Missense_R663K exm1442745 19 17664325 [A/G] NM_173544 FAM129C EXON Missense_V683I exm1442762 19 17670154 [A/G] NM_024656 GLT25D1 EXON Missense_T99A exm1442768 19 17670181 [A/G] NM_024656 GLT25D1 EXON Missense_V108M exm1442772 19 17671165 [T/C] NM_024656 GLT25D1 EXON Missense_P127L exm1442781 19 17671248 [C/G] NM_024656 GLT25D1 EXON Missense_R155G exm1442789 19 17679355 [A/G] NM_024656 GLT25D1 EXON Missense_R221H exm1442792 19 17679366 [T/C] NM_024656 GLT25D1 EXON Missense_R225C exm1442793 19 17679370 [A/G] NM_024656 GLT25D1 EXON Missense_R226Q exm1442815 19 17688018 [A/G] NM_024656 GLT25D1 EXON Missense_A322T exm1442825 19 17688779 [A/G] NM_024656 GLT25D1 EXON Missense_S383G exm1442834 19 17690379 [T/C] NM_024656 GLT25D1 EXON Missense_M452T exm1926764 19 17690394 [A/G] NM_024656 GLT25D1 EXON Missense_R457Q exm1442846 19 17691638 [C/G] NM_024656 GLT25D1 EXON Missense_L509V exm1442865 19 17692098 [A/G] NM_024656 GLT25D1 EXON Missense_E572K exm1442869 19 17692146 [T/C] NM_024656 GLT25D1 EXON Missense_R588C exm1442873 19 17692240 [A/G] NM_024656 GLT25D1 EXON Missense_R619Q exm1442915 19 17731515 [T/G] NM_001080421 UNC13A EXON Missense_P1420Q exm1442919 19 17735631 [A/G] NM_001080421 UNC13A Silent exm1442947 19 17743622 [A/C] NM_001080421 UNC13A EXON Missense_A1133S exm1442957 19 17746947 [A/G] NM_001080421 UNC13A EXON Missense_L1034P exm1442958 19 17749893 [A/G] NM_001080421 UNC13A EXON Missense_P1027L exm1442963 19 17751337 [A/C] NM_001080421 UNC13A EXON Missense_A924S exm1926809 19 17752331 [T/C] NM_001080421 UNC13A EXON Missense_N836S exm1443009 19 17760353 [A/G] NM_001080421 UNC13A EXON Missense_R495C exm1443013 19 17763441 [T/C] NM_001080421 UNC13A EXON Missense_G480S exm1443026 19 17766900 [T/C] NM_001080421 UNC13A EXON Missense_A359T exm1443029 19 17766944 [A/G] NM_001080421 UNC13A EXON Missense_L344P exm1443035 19 17767083 [A/G] NM_001080421 UNC13A EXON Missense_R298W exm1443042 19 17767176 [T/C] NM_001080421 UNC13A EXON Missense_G267R exm1443047 19 17768899 [T/C] NM_001080421 UNC13A EXON Missense_E247K exm1443053 19 17769016 [T/C] NM_001080421 UNC13A EXON Missense_S208G exm1443065 19 17778942 [A/G] NM_001080421 UNC13A EXON Missense_M151T exm1443074 19 17783304 [A/G] NM_001080421 UNC13A EXON Synonymous_F51F exm1443105 19 17831774 [T/G] NM_018174 MAP1S EXON Missense_V50F exm1443119 19 17835885 [T/C] NM_018174 MAP1S EXON Missense_S111P exm1443144 19 17836969 [A/G] NM_018174 MAP1S EXON Missense_N259S exm1443149 19 17837151 [T/G] NM_018174 MAP1S EXON Missense_G320C exm1443169 19 17837512 [A/G] NM_018174 MAP1S EXON Missense_C440Y exm1443178 19 17837598 [G/C] NM_018174 MAP1S EXON Missense_R469G exm1443184 19 17837785 [T/C] NM_018174 MAP1S EXON Missense_P531L exm1443185 19 17837806 [A/C] NM_018174 MAP1S EXON Missense_P538Q exm1926871 19 17837811 [A/G] NM_018174 MAP1S EXON Missense_E540K exm1443191 19 17837881 [A/G] NM_018174 MAP1S EXON Missense_R563H exm1443193 19 17837896 [T/C] NM_018174 MAP1S EXON Missense_T568M exm1443219 19 17838390 [T/C] NM_018174 MAP1S EXON Missense_H733Y exm1443223 19 17838466 [T/C] NM_018174 MAP1S EXON Missense_A758V exm1443224 19 17838498 [T/C] NM_018174 MAP1S EXON Missense_R769W exm1443225 19 17838520 [A/G] NM_018174 MAP1S EXON Missense_G776E exm1443236 19 17838742 [T/C] NM_018174 MAP1S EXON Missense_P850L exm1443241 19 17838775 [A/G] NM_018174 MAP1S EXON Missense_R861H exm1443243 19 17838795 [C/G] NM_018174 MAP1S EXON Missense_R868G exm1443250 19 17838912 [A/G] NM_018174 MAP1S EXON Missense_E907K exm2228597 19 17844122 [A/G] NM_018174 MAP1S EXON Missense_R970H exm1443268 19 17844227 [A/G] NM_018174 MAP1S EXON Missense_R1005H exm1443279 19 17873644 [T/C] NM_001161357,NM_001161358,NM_015122,NM_001161359 FCHO1,FCHO1,FCHO1,FCHO1 EXON Missense_A34V,Missense_A34V,Missense_A34V,Silent exm2228598 19 17875233 [G/C] NM_001161357,NM_001161358,NM_015122,NM_001161359 FCHO1,FCHO1,FCHO1,FCHO1 EXON Missense_L57V,Missense_L57V,Missense_L57V,Missense_L7V exm1443292 19 17877590 [A/G] NM_001161357,NM_001161358,NM_015122,NM_001161359 FCHO1,FCHO1,FCHO1,FCHO1 EXON Missense_G103S,Missense_G103S,Missense_G103S,Missense_G53S exm1443296 19 17881285 [A/G] NM_001161357,NM_001161358,NM_015122,NM_001161359 FCHO1,FCHO1,FCHO1,FCHO1 EXON Missense_V130I,Missense_V130I,Missense_V130I,Missense_V80I exm1443304 19 17881602 [T/C] NM_001161357,NM_001161358,NM_015122,NM_001161359 FCHO1,FCHO1,FCHO1,FCHO1 EXON Missense_A164V,Missense_A164V,Missense_A164V,Missense_A114V exm1443305 19 17881605 [A/G] NM_001161357,NM_001161358,NM_015122,NM_001161359 FCHO1,FCHO1,FCHO1,FCHO1 EXON Missense_E165G,Missense_E165G,Missense_E165G,Missense_E115G exm1443306 19 17881640 [T/C] NM_001161357,NM_001161358,NM_015122,NM_001161359 FCHO1,FCHO1,FCHO1,FCHO1 EXON Missense_R177C,Missense_R177C,Missense_R177C,Missense_R127C exm1443307 19 17881641 [A/G] NM_001161357,NM_001161358,NM_015122,NM_001161359 FCHO1,FCHO1,FCHO1,FCHO1 EXON Missense_R177H,Missense_R177H,Missense_R177H,Missense_R127H exm1443308 19 17881668 [A/G] NM_001161357,NM_001161358,NM_015122,NM_001161359 FCHO1,FCHO1,FCHO1,FCHO1 EXON Missense_R186Q,Missense_R186Q,Missense_R186Q,Missense_R136Q exm1443313 19 17883477 [A/C] NM_001161357,NM_001161358,NM_015122,NM_001161359 FCHO1,FCHO1,FCHO1,FCHO1 EXON Missense_N239K,Missense_N239K,Missense_N239K,Missense_N189K exm1443318 19 17885049 [A/G] NM_001161357,NM_001161358,NM_015122,NM_001161359 FCHO1,FCHO1,FCHO1,FCHO1 EXON Synonymous_G264G,Synonymous_G264G,Synonymous_G264G,Synonymous_G214G exm1443320 19 17885204 [A/G] NM_001161357,NM_001161358,NM_015122,NM_001161359 FCHO1,FCHO1,FCHO1,FCHO1 EXON Synonymous_A279A,Synonymous_A279A,Synonymous_A279A,Synonymous_A229A exm1443322 19 17885218 [A/G] NM_001161357,NM_001161358,NM_015122,NM_001161359 FCHO1,FCHO1,FCHO1,FCHO1 EXON Missense_R284Q,Missense_R284Q,Missense_R284Q,Missense_R234Q exm1926937 19 17886295 [A/T] NM_001161357,NM_001161358,NM_015122,NM_001161359 FCHO1,FCHO1,FCHO1,FCHO1 EXON Missense_T326S,Missense_T326S,Missense_T326S,Missense_T276S exm1443347 19 17886852 [A/G] NM_001161357,NM_001161358,NM_015122,NM_001161359 FCHO1,FCHO1,FCHO1,FCHO1 EXON Missense_R355H,Missense_R355H,Missense_R355H,Missense_R305H exm1443352 19 17886908 [A/G] NM_001161357,NM_001161358,NM_015122,NM_001161359 FCHO1,FCHO1,FCHO1,FCHO1 EXON Missense_E374K,Missense_E374K,Missense_E374K,Missense_E324K exm1443363 19 17887474 [A/G] NM_001161357,NM_001161358,NM_015122,NM_001161359 FCHO1,FCHO1,FCHO1,FCHO1 EXON Missense_R413Q,Missense_R413Q,Missense_R413Q,Missense_R363Q exm1443367 19 17888954 [A/G] NM_001161357,NM_001161358,NM_015122,NM_001161359 FCHO1,FCHO1,FCHO1,FCHO1 EXON Missense_E423G,Missense_E423G,Missense_E423G,Missense_E373G exm1443387 19 17892144 [A/G] NM_001161357,NM_001161358,NM_015122,NM_001161359 FCHO1,FCHO1,FCHO1,FCHO1 EXON Missense_G578R,Missense_G578R,Missense_G578R,Missense_G528R exm1443401 19 17892614 [A/G] NM_001161357,NM_001161358,NM_015122,NM_001161359 FCHO1,FCHO1,FCHO1,FCHO1 EXON Missense_R641H,Missense_R641H,Missense_R641H,Missense_R591H exm1443402 19 17893837 [A/G] NM_001161357,NM_001161358,NM_015122,NM_001161359 FCHO1,FCHO1,FCHO1,FCHO1 EXON Missense_R650Q,Missense_R650Q,Missense_R650Q,Missense_R600Q exm1443403 19 17893878 [A/G] NM_001161357,NM_001161358,NM_015122,NM_001161359 FCHO1,FCHO1,FCHO1,FCHO1 EXON Missense_V664M,Missense_V664M,Missense_V664M,Missense_V614M exm1443407 19 17893908 [C/G] NM_001161357,NM_001161358,NM_015122,NM_001161359 FCHO1,FCHO1,FCHO1,FCHO1 EXON Missense_P674A,Missense_P674A,Missense_P674A,Missense_P624A exm1443415 19 17894991 [A/G] NM_001161357,NM_001161358,NM_015122,NM_001161359 FCHO1,FCHO1,FCHO1,FCHO1 EXON Missense_A725T,Missense_A725T,Missense_A725T,Missense_A675T exm1443419 19 17895546 [A/G] NM_001161357,NM_001161358,NM_015122,NM_001161359 FCHO1,FCHO1,FCHO1,FCHO1 EXON Missense_G747S,Missense_G747S,Missense_G747S,Missense_G697S exm1443421 19 17895610 [T/C] NM_001161357,NM_001161358,NM_015122,NM_001161359 FCHO1,FCHO1,FCHO1,FCHO1 EXON Missense_V768A,Missense_V768A,Missense_V768A,Missense_V718A exm1443424 19 17895630 [T/C] NM_001161357,NM_001161358,NM_015122,NM_001161359 FCHO1,FCHO1,FCHO1,FCHO1 EXON Missense_R775W,Missense_R775W,Missense_R775W,Missense_R725W exm1926969 19 17895706 [A/C] NM_001161357,NM_001161358,NM_015122,NM_001161359 FCHO1,FCHO1,FCHO1,FCHO1 EXON Missense_N800T,Missense_N800T,Missense_N800T,Missense_N750T exm1443429 19 17895708 [A/G] NM_001161357,NM_001161358,NM_015122,NM_001161359 FCHO1,FCHO1,FCHO1,FCHO1 EXON Missense_V801I,Missense_V801I,Missense_V801I,Missense_V751I exm1443448 19 17899080 [T/C] NM_001161357,NM_001161358,NM_015122,NM_001161359 FCHO1,FCHO1,FCHO1,FCHO1 EXON Synonymous_A883A,Silent,Silent,Silent exm1443455 19 17918650 [A/G] NM_014256 B3GNT3 EXON Missense_T12A exm1443472 19 17918950 [T/G] NM_014256 B3GNT3 EXON Missense_V112L exm1443473 19 17918978 [T/C] NM_014256 B3GNT3 EXON Missense_V121A exm1443486 19 17922470 [A/G] NM_014256 B3GNT3 EXON Missense_M220V exm1443487 19 17922500 [A/G] NM_014256 B3GNT3 EXON Missense_G230S exm1443488 19 17922503 [A/C] NM_014256 B3GNT3 EXON Missense_R231S exm1443494 19 17922666 [A/G] NM_014256 B3GNT3 EXON Missense_R285H exm1443497 19 17922768 [T/C] NM_014256 B3GNT3 EXON Missense_T319M exm1443501 19 17922777 [T/C] NM_014256 B3GNT3 EXON Missense_V322A exm1443505 19 17922795 [A/G] NM_014256 B3GNT3 EXON Missense_R328H exm2253700 19 17927041 [T/C] exm1443518 19 17927687 [G/C] NM_005543,NM_001265587 INSL3,INSL3 EXON Missense_D124E,Missense_T156S exm1443522 19 17927754 [T/C] NM_005543,NM_001265587 INSL3,INSL3 EXON Missense_R102H,Missense_A134T exm1443523 19 17927781 [A/G] NM_005543,NM_001265587 INSL3,INSL3 EXON Missense_P93L,Missense_P125S exm1443527 19 17927844 [T/C] NM_005543,NM_001265587 INSL3,INSL3 EXON Missense_R72K,Missense_D104N exm1443528 19 17927847 [T/C] NM_005543,NM_001265587 INSL3,INSL3 EXON Missense_E71G,Missense_R103G exm1927020 19 17927854 [A/G] NM_005543,NM_001265587 INSL3,INSL3 EXON Missense_W69R,Synonymous_S100S exm1443537 19 17932201 [C/G] NM_005543,NM_001265587 INSL3,INSL3 EXON Missense_V39L,Missense_V39L exm1443553 19 17937659 [T/C] NM_000215 JAK3 EXON Missense_A1090T exm1443558 19 17937710 [A/G] NM_000215 JAK3 EXON Missense_L1073F exm1443570 19 17941341 [A/G] NM_000215 JAK3 EXON Missense_Y1023H exm1443584 19 17943348 [T/C] NM_000215 JAK3 EXON Missense_R887H exm1443585 19 17943372 [T/C] NM_000215 JAK3 EXON Missense_H879R exm1443593 19 17943490 [A/G] NM_000215 JAK3 EXON Missense_R840C exm1443612 19 17945696 [T/C] NM_000215 JAK3 EXON Missense_V722I exm1443613 19 17945708 [G/C] NM_000215 JAK3 EXON Missense_V718L exm2228603 19 17945798 [A/T] NM_000215 JAK3 EXON Missense_I688F exm1443631 19 17946842 [A/G] NM_000215 JAK3 EXON Missense_F602S exm1443642 19 17948856 [T/C] NM_000215 JAK3 EXON Missense_H529R exm1443659 19 17950435 [T/C] NM_000215 JAK3 EXON Missense_R431Q exm2228605 19 17950465 [A/C] NM_000215 JAK3 EXON Missense_L421R exm2275052 19 17952349 [T/C] NM_000215 JAK3 EXON Missense_E331K exm1443675 19 17953154 [A/C] NM_000215 JAK3 EXON Missense_G278C exm2275053 19 17953321 [T/C] NM_000215 JAK3 EXON Missense_R222H exm1443691 19 17953924 [A/C] NM_000215 JAK3 EXON Missense_G160C exm1443692 19 17953950 [C/G] NM_000215 JAK3 EXON Missense_P151R exm1443693 19 17954215 [T/G] NM_000215 JAK3 EXON Missense_P132T exm1443702 19 17954707 [T/C] NM_000215 JAK3 EXON Missense_I63V exm1443706 19 17955043 [T/C] NM_000215 JAK3 EXON Missense_G62S exm1443707 19 17955044 [A/G] NM_000215 JAK3 EXON Synonymous_S61S exm1443709 19 17955108 [T/C] NM_000215 JAK3 EXON Missense_R40H exm1443715 19 17955204 [A/G] NM_000215 JAK3 EXON Missense_T8M exm2272823 19 17958777 [T/C] NM_000215 JAK3 EXON Silent exm1443726 19 17972120 [A/G] NM_000980 RPL18A EXON Missense_V13M exm2253701 19 17972137 [G/C] NM_000980 RPL18A EXON Synonymous_P18P exm1443786 19 17986879 [T/C] NM_000453 SLC5A5 EXON Missense_T221M exm1443789 19 17988555 [A/G] NM_000453 SLC5A5 EXON Missense_R241H exm1443800 19 17988795 [A/G] NM_000453 SLC5A5 EXON Missense_G288S exm1443825 19 17994836 [A/G] NM_000453 SLC5A5 EXON Missense_D503N exm1443829 19 17999160 [A/G] NM_000453 SLC5A5 EXON Missense_R516Q exm1927160 19 18001707 [A/G] NM_000453 SLC5A5 EXON Missense_R555H exm1443837 19 18001748 [T/C] NM_000453 SLC5A5 EXON Missense_R569W exm1443842 19 18004534 [T/C] NM_000453 SLC5A5 EXON Missense_L594F exm1443846 19 18004585 [A/C] NM_000453 SLC5A5 EXON Missense_R611S exm1443853 19 18047281 [T/C] NM_001136203,NM_138442 CCDC124,CCDC124 EXON Missense_R18C,Missense_R18C exm1443872 19 18053603 [A/G] NM_001136203,NM_138442 CCDC124,CCDC124 EXON Missense_I100V,Missense_I100V exm1443873 19 18053631 [A/G] NM_001136203,NM_138442 CCDC124,CCDC124 EXON Missense_Q109R,Missense_Q109R exm1443876 19 18054132 [G/C] NM_001136203,NM_138442 CCDC124,CCDC124 EXON Missense_E138Q,Missense_E138Q exm1443884 19 18054331 [T/C] NM_001136203,NM_138442 CCDC124,CCDC124 EXON Missense_A160V,Missense_A160V exm1443893 19 18054456 [A/C] NM_001136203,NM_138442 CCDC124,CCDC124 EXON Missense_K202Q,Missense_K202Q exm1443894 19 18054468 [T/C] NM_001136203,NM_138442 CCDC124,CCDC124 EXON Missense_R206C,Missense_R206C exm1443956 19 18108970 [A/G] NM_002248 KCNN1 EXON Missense_V463I exm1443974 19 18112361 [T/C] NM_001025604 ARRDC2 EXON Missense_R80C exm2253702 19 18119140 [A/G] NM_001025604,NM_015683 ARRDC2,ARRDC2 EXON Silent,Synonymous_K7K exm1443979 19 18119159 [G/C] NM_001025604,NM_015683 ARRDC2,ARRDC2 EXON Silent,Missense_D14H exm1444005 19 18119821 [A/G] NM_001025604,NM_015683 ARRDC2,ARRDC2 EXON Missense_R123H,Missense_R128H exm1444007 19 18119848 [A/G] NM_001025604,NM_015683 ARRDC2,ARRDC2 EXON Missense_R132Q,Missense_R137Q exm1444013 19 18120404 [T/C] NM_001025604,NM_015683 ARRDC2,ARRDC2 EXON Missense_P160S,Missense_P165S exm1444022 19 18120606 [A/G] NM_001025604,NM_015683 ARRDC2,ARRDC2 EXON Missense_V198I,Missense_V203I exm1444029 19 18120660 [A/G] NM_001025604,NM_015683 ARRDC2,ARRDC2 EXON Missense_V216M,Missense_V221M exm1444032 19 18120688 [A/G] NM_001025604,NM_015683 ARRDC2,ARRDC2 EXON Missense_R225Q,Missense_R230Q exm1444040 19 18120784 [A/G] NM_001025604,NM_015683 ARRDC2,ARRDC2 EXON Missense_R257Q,Missense_R262Q exm1444052 19 18121080 [T/C] NM_001025604,NM_015683 ARRDC2,ARRDC2 EXON Missense_P304S,Missense_P309S exm1444054 19 18121104 [A/G] NM_001025604,NM_015683 ARRDC2,ARRDC2 EXON Missense_V312M,Missense_V317M exm1444070 19 18123738 [T/C] NM_001025604,NM_015683 ARRDC2,ARRDC2 EXON Missense_L391P,Missense_L396P exm1444083 19 18170727 [T/C] NM_005535 IL12RB1 EXON Missense_D654N exm1444088 19 18170808 [T/C] NM_005535 IL12RB1 EXON Missense_E627K exm1444091 19 18170874 [A/C] NM_005535 IL12RB1 EXON Missense_V605L exm1444093 19 18171953 [A/C] NM_005535 IL12RB1 EXON Missense_I590M exm1444094 19 18171955 [A/T] NM_005535 IL12RB1 EXON Missense_I590F exm1444106 19 18174731 [T/C] NM_005535 IL12RB1 EXON Missense_A525T exm1444113 19 18177384 [T/C] NM_005535 IL12RB1 EXON Missense_R484H exm1444121 19 18179231 [A/G] NM_005535 IL12RB1 EXON Missense_T432M exm1444124 19 18179264 [A/G] NM_005535 IL12RB1 EXON Missense_S421F exm1444127 19 18179309 [T/C] NM_005535 IL12RB1 EXON Missense_G406E exm1444129 19 18180373 [A/G] NM_005535 IL12RB1 EXON Missense_P391L exm1444134 19 18180413 [G/C] NM_005535 IL12RB1 EXON Missense_G378R exm1444139 19 18180451 [A/G] NM_005535 IL12RB1 EXON Missense_M365T exm1444141 19 18180497 [T/C] NM_005535 IL12RB1 EXON Missense_G350R exm2228615 19 18182136 [C/G] NM_005535,NM_153701 IL12RB1,IL12RB1 EXON Silent,Missense_M343I exm1444144 19 18182926 [C/G] NM_005535,NM_153701 IL12RB1,IL12RB1 EXON Missense_H339Q,Missense_H339Q exm1444155 19 18183095 [T/C] NM_005535,NM_153701 IL12RB1,IL12RB1 EXON Missense_R283Q,Missense_R283Q exm1444160 19 18183119 [A/G] NM_005535,NM_153701 IL12RB1,IL12RB1 EXON Missense_A275V,Missense_A275V exm1444168 19 18184379 [A/G] NM_005535,NM_153701 IL12RB1,IL12RB1 EXON Missense_S244L,Missense_S244L exm1444169 19 18184398 [C/G] NM_005535,NM_153701 IL12RB1,IL12RB1 EXON Missense_Q238E,Missense_Q238E exm1444171 19 18186564 [A/G] NM_005535,NM_153701 IL12RB1,IL12RB1 EXON Missense_P232L,Missense_P232L exm1444176 19 18186618 [T/C] NM_005535,NM_153701 IL12RB1,IL12RB1 EXON Missense_Q214R,Missense_Q214R exm1444180 19 18186657 [T/G] NM_005535,NM_153701 IL12RB1,IL12RB1 EXON Missense_E201A,Missense_E201A exm1444182 19 18186663 [C/G] NM_005535,NM_153701 IL12RB1,IL12RB1 EXON Missense_P199R,Missense_P199R exm1444185 19 18188327 [A/G] NM_005535,NM_153701 IL12RB1,IL12RB1 EXON Missense_L183S,Missense_L183S exm1444186 19 18188358 [A/G] NM_005535,NM_153701 IL12RB1,IL12RB1 EXON Missense_R173W,Missense_R173W exm1444200 19 18191731 [A/G] NM_005535,NM_153701 IL12RB1,IL12RB1 EXON Missense_V107A,Missense_V107A exm1444206 19 18191780 [T/C] NM_005535,NM_153701 IL12RB1,IL12RB1 EXON Missense_A91T,Missense_A91T exm1444215 19 18193020 [T/C] NM_005535,NM_153701 IL12RB1,IL12RB1 EXON Missense_Y60C,Missense_Y60C exm1444216 19 18193023 [T/C] NM_005535,NM_153701 IL12RB1,IL12RB1 EXON Missense_R59H,Missense_R59H exm1444224 19 18194256 [A/G] NM_005535,NM_153701 IL12RB1,IL12RB1 EXON Missense_P37L,Missense_P37L exm1444227 19 18194265 [A/G] NM_005535,NM_153701 IL12RB1,IL12RB1 EXON Missense_P34L,Missense_P34L exm1444244 19 18232582 [A/G] NM_015016 MAST3 EXON Synonymous_T53T exm1444265 19 18234789 [T/C] NM_015016 MAST3 EXON Missense_T196M exm1444268 19 18234810 [A/G] NM_015016 MAST3 EXON Missense_R203Q exm1444293 19 18241327 [A/G] NM_015016 MAST3 EXON Missense_R387H exm1444294 19 18241335 [T/C] NM_015016 MAST3 EXON Missense_R390W exm1444312 19 18245711 [A/G] NM_015016 MAST3 EXON Missense_V568I exm1444340 19 18255359 [A/G] NM_015016 MAST3 EXON Missense_G861S exm1444354 19 18255941 [A/G] NM_015016 MAST3 EXON Missense_V952I exm2272767 19 18257750 [T/C] NM_015016 MAST3 EXON Synonymous_G1045G exm1444406 19 18260501 [A/G] NM_015016 MAST3 EXON Missense_V1299M exm1444410 19 18266699 [T/C] NM_005027,NR_073517 PIK3R2,PIK3R2 EXON Missense_P4S,Silent exm1444414 19 18266849 [A/G] NM_005027,NR_073517 PIK3R2,PIK3R2 EXON Missense_V54M,Silent exm1444420 19 18267009 [T/C] NM_005027,NR_073517 PIK3R2,PIK3R2 EXON Missense_P107L,Silent exm1444431 19 18271764 [T/C] NM_005027,NR_073517 PIK3R2,PIK3R2 EXON Missense_P151S,Silent exm1444447 19 18273013 [A/G] NM_005027,NR_073517 PIK3R2,PIK3R2 EXON Synonymous_A301A,Silent exm1444449 19 18273047 [T/C] NM_005027,NR_073517 PIK3R2,PIK3R2 EXON Missense_S313P,Silent exm1444468 19 18273910 [A/G] NM_005027,NR_073517 PIK3R2,PIK3R2 EXON Missense_A415T,Silent exm1444475 19 18276981 [T/G] NM_005027,NR_073517 PIK3R2,PIK3R2 EXON Missense_M476I,Silent exm1444477 19 18277007 [A/G] NM_005027,NR_073517 PIK3R2,PIK3R2 EXON Missense_N485S,Silent exm1444491 19 18278023 [T/C] NM_005027,NR_073517 PIK3R2,PIK3R2 EXON Missense_A548V,Silent exm1444530 19 18285869 [C/G] NM_006332 IFI30 EXON Missense_R51P exm1444531 19 18285896 [T/C] NM_006332 IFI30 EXON Missense_P60L exm1444532 19 18285944 [A/G] NM_006332 IFI30 EXON Missense_R76Q exm1444537 19 18285989 [T/C] NM_006332 IFI30 EXON Missense_M91T exm1444543 19 18286142 [T/G] NM_006332 IFI30 EXON Missense_W113G exm1444549 19 18288004 [A/G] NM_006332 IFI30 EXON Missense_M180V exm1444554 19 18288034 [A/G] NM_006332 IFI30 EXON Missense_A190T exm1444556 19 18288072 [C/G] NM_006332 IFI30 EXON Missense_H202Q exm1444560 19 18288540 [C/G] NM_006332 IFI30 EXON Missense_T219S exm2273571 19 18288898 [T/C] NM_006332 IFI30 EXON Silent exm1444566 19 18304123 [A/G] NM_032683 MPV17L2 EXON Missense_R11H exm1444575 19 18304700 [A/G] NM_032683 MPV17L2 EXON Missense_M72V exm1444608 19 18308430 [A/G] NM_002866 RAB3A EXON Synonymous_N171N exm1444631 19 18321797 [A/G] NM_000923,NM_001098818,NR_040546,NM_001098819 PDE4C,PDE4C,PDE4C,PDE4C EXON Missense_L694P,Missense_L662P,Silent,Missense_L588P exm1444636 19 18321918 [C/G] NM_000923,NM_001098818,NR_040546,NM_001098819 PDE4C,PDE4C,PDE4C,PDE4C EXON Missense_D654H,Missense_D622H,Silent,Missense_D548H exm1444657 19 18322702 [A/G] NM_000923,NM_001098818,NR_040546,NM_001098819 PDE4C,PDE4C,PDE4C,PDE4C EXON Missense_P553L,Missense_P521L,Silent,Missense_P447L exm1444675 19 18329223 [T/C] NM_000923,NM_001098818,NR_040546,NM_001098819 PDE4C,PDE4C,PDE4C,PDE4C EXON Missense_N384S,Missense_N352S,Silent,Missense_N278S exm1444680 19 18329784 [T/C] NM_000923,NM_001098818,NR_040546,NM_001098819 PDE4C,PDE4C,PDE4C,PDE4C EXON Missense_R344Q,Missense_R312Q,Silent,Missense_R238Q exm1444681 19 18329785 [A/G] NM_000923,NM_001098818,NR_040546,NM_001098819 PDE4C,PDE4C,PDE4C,PDE4C EXON Missense_R344W,Missense_R312W,Silent,Missense_R238W exm1444688 19 18330088 [G/C] NM_000923,NM_001098818,NR_040546,NM_001098819 PDE4C,PDE4C,PDE4C,PDE4C EXON Missense_P308A,Missense_P276A,Silent,Missense_P202A exm1444689 19 18330144 [T/C] NM_000923,NM_001098818,NR_040546,NM_001098819 PDE4C,PDE4C,PDE4C,PDE4C EXON Missense_R289Q,Missense_R257Q,Silent,Missense_R183Q exm1927580 19 18331274 [A/C] NM_000923,NM_001098818,NR_040546,NM_001098819 PDE4C,PDE4C,PDE4C,PDE4C EXON Missense_C216F,Missense_C184F,Silent,Missense_C110F exm1444711 19 18332946 [T/C] NM_000923,NM_001098818,NR_040546,NM_001098819 PDE4C,PDE4C,PDE4C,PDE4C EXON Missense_D144N,Missense_D112N,Silent,Missense_D38N exm1444715 19 18332984 [A/G] NM_000923,NM_001098818,NR_040546,NM_001098819 PDE4C,PDE4C,PDE4C,PDE4C EXON Missense_S131L,Missense_S99L,Silent,Missense_S25L exm1444717 19 18332993 [T/C] NM_000923,NM_001098818,NR_040546,NM_001098819 PDE4C,PDE4C,PDE4C,PDE4C EXON Missense_Y128C,Missense_Y96C,Silent,Missense_Y22C exm1444723 19 18333062 [T/C] NM_000923,NM_001098818,NR_040546,NM_001098819 PDE4C,PDE4C,PDE4C,PDE4C EXON Missense_R105Q,Missense_R73Q,Silent,Silent exm1444733 19 18343830 [T/C] NM_000923 PDE4C EXON Missense_E58K exm1444742 19 18343968 [T/C] NM_000923 PDE4C EXON Missense_A12T exm1444744 19 18367995 [A/T] NM_001145304,NM_001145305,NM_025249 KIAA1683,KIAA1683,KIAA1683 EXON Missense_I1367F,Missense_I1134F,Missense_I1180F exm1444752 19 18368076 [A/G] NM_001145304,NM_001145305,NM_025249 KIAA1683,KIAA1683,KIAA1683 EXON Missense_R1340W,Missense_R1107W,Missense_R1153W exm1444754 19 18368108 [A/G] NM_001145304,NM_001145305,NM_025249 KIAA1683,KIAA1683,KIAA1683 EXON Missense_I1329T,Missense_I1096T,Missense_I1142T exm1444758 19 18368134 [T/C] NM_001145304,NM_001145305,NM_025249 KIAA1683,KIAA1683,KIAA1683 EXON Missense_M1320I,Missense_M1087I,Missense_M1133I exm1444761 19 18368181 [A/T] NM_001145304,NM_001145305,NM_025249 KIAA1683,KIAA1683,KIAA1683 EXON Missense_T1305S,Missense_T1072S,Missense_T1118S exm1444763 19 18368186 [A/G] NM_001145304,NM_001145305,NM_025249 KIAA1683,KIAA1683,KIAA1683 EXON Missense_A1303V,Missense_A1070V,Missense_A1116V exm1444767 19 18368220 [T/G] NM_001145304,NM_001145305,NM_025249 KIAA1683,KIAA1683,KIAA1683 EXON Missense_L1292M,Missense_L1059M,Missense_L1105M exm1444772 19 18368313 [A/G] NM_001145304,NM_001145305,NM_025249 KIAA1683,KIAA1683,KIAA1683 EXON Missense_R1261C,Missense_R1028C,Missense_R1074C exm1444774 19 18368334 [A/G] NM_001145304,NM_001145305,NM_025249 KIAA1683,KIAA1683,KIAA1683 EXON Missense_R1254C,Missense_R1021C,Missense_R1067C exm1444777 19 18368412 [T/C] NM_001145304,NM_001145305,NM_025249 KIAA1683,KIAA1683,KIAA1683 EXON Missense_A1228T,Missense_A995T,Missense_A1041T exm1444787 19 18368564 [T/C] NM_001145304,NM_001145305,NM_025249 KIAA1683,KIAA1683,KIAA1683 EXON Missense_R1177Q,Missense_R944Q,Missense_R990Q exm1444799 19 18368681 [T/C] NM_001145304,NM_001145305,NM_025249 KIAA1683,KIAA1683,KIAA1683 EXON Missense_R1138Q,Missense_R905Q,Missense_R951Q exm2228632 19 18368694 [A/G] NM_001145304,NM_001145305,NM_025249 KIAA1683,KIAA1683,KIAA1683 EXON Missense_R1134W,Missense_R901W,Missense_R947W exm2228633 19 18368702 [T/C] NM_001145304,NM_001145305,NM_025249 KIAA1683,KIAA1683,KIAA1683 EXON Missense_R1131H,Missense_R898H,Missense_R944H exm1444807 19 18368729 [A/G] NM_001145304,NM_001145305,NM_025249 KIAA1683,KIAA1683,KIAA1683 EXON Missense_A1122V,Missense_A889V,Missense_A935V exm1444808 19 18368745 [T/C] NM_001145304,NM_001145305,NM_025249 KIAA1683,KIAA1683,KIAA1683 EXON Missense_V1117M,Missense_V884M,Missense_V930M exm1444810 19 18368748 [T/C] NM_001145304,NM_001145305,NM_025249 KIAA1683,KIAA1683,KIAA1683 EXON Missense_A1116T,Missense_A883T,Missense_A929T exm1444813 19 18368796 [T/C] NM_001145304,NM_001145305,NM_025249 KIAA1683,KIAA1683,KIAA1683 EXON Missense_G1100R,Missense_G867R,Missense_G913R exm1444816 19 18368810 [T/G] NM_001145304,NM_001145305,NM_025249 KIAA1683,KIAA1683,KIAA1683 EXON Missense_P1095H,Missense_P862H,Missense_P908H exm1444819 19 18368829 [A/G] NM_001145304,NM_001145305,NM_025249 KIAA1683,KIAA1683,KIAA1683 EXON Missense_R1089C,Missense_R856C,Missense_R902C exm1444821 19 18368873 [T/C] NM_001145304,NM_001145305,NM_025249 KIAA1683,KIAA1683,KIAA1683 EXON Missense_R1074H,Missense_R841H,Missense_R887H exm1444822 19 18368874 [A/G] NM_001145304,NM_001145305,NM_025249 KIAA1683,KIAA1683,KIAA1683 EXON Missense_R1074C,Missense_R841C,Missense_R887C exm1444823 19 18368882 [A/G] NM_001145304,NM_001145305,NM_025249 KIAA1683,KIAA1683,KIAA1683 EXON Missense_S1071L,Missense_S838L,Missense_S884L exm1444825 19 18368910 [T/C] NM_001145304,NM_001145305,NM_025249 KIAA1683,KIAA1683,KIAA1683 EXON Missense_A1062T,Missense_A829T,Missense_A875T exm1444830 19 18375346 [A/G] NM_001145304,NM_001145305,NM_025249 KIAA1683,KIAA1683,KIAA1683 EXON Nonsense_Q1002X,Silent,Silent exm1444831 19 18375352 [C/G] NM_001145304,NM_001145305,NM_025249 KIAA1683,KIAA1683,KIAA1683 EXON Missense_L1000V,Silent,Silent exm1444835 19 18375531 [A/G] NM_001145304,NM_001145305,NM_025249 KIAA1683,KIAA1683,KIAA1683 EXON Missense_A940V,Silent,Silent exm2253705 19 18375563 [A/G] NM_001145304,NM_001145305,NM_025249 KIAA1683,KIAA1683,KIAA1683 EXON Synonymous_P929P,Silent,Silent exm1444844 19 18375760 [C/G] NM_001145304,NM_001145305,NM_025249 KIAA1683,KIAA1683,KIAA1683 EXON Missense_Q864E,Missense_Q818E,Missense_Q864E exm1444845 19 18375763 [T/C] NM_001145304,NM_001145305,NM_025249 KIAA1683,KIAA1683,KIAA1683 EXON Missense_G863S,Missense_G817S,Missense_G863S exm1444847 19 18375783 [T/C] NM_001145304,NM_001145305,NM_025249 KIAA1683,KIAA1683,KIAA1683 EXON Missense_R856H,Missense_R810H,Missense_R856H exm1444848 19 18375784 [A/G] NM_001145304,NM_001145305,NM_025249 KIAA1683,KIAA1683,KIAA1683 EXON Missense_R856C,Missense_R810C,Missense_R856C exm1444849 19 18375787 [T/C] NM_001145304,NM_001145305,NM_025249 KIAA1683,KIAA1683,KIAA1683 EXON Missense_T855A,Missense_T809A,Missense_T855A exm1444855 19 18375832 [T/C] NM_001145304,NM_001145305,NM_025249 KIAA1683,KIAA1683,KIAA1683 EXON Missense_G840S,Missense_G794S,Missense_G840S exm1444857 19 18375846 [A/G] NM_001145304,NM_001145305,NM_025249 KIAA1683,KIAA1683,KIAA1683 EXON Missense_P835L,Missense_P789L,Missense_P835L exm1444864 19 18375916 [T/C] NM_001145304,NM_001145305,NM_025249 KIAA1683,KIAA1683,KIAA1683 EXON Missense_V812M,Missense_V766M,Missense_V812M exm1444870 19 18375985 [T/C] NM_001145304,NM_001145305,NM_025249 KIAA1683,KIAA1683,KIAA1683 EXON Missense_G789S,Missense_G743S,Missense_G789S exm1444871 19 18375990 [T/C] NM_001145304,NM_001145305,NM_025249 KIAA1683,KIAA1683,KIAA1683 EXON Missense_R787H,Missense_R741H,Missense_R787H exm1444872 19 18375991 [A/G] NM_001145304,NM_001145305,NM_025249 KIAA1683,KIAA1683,KIAA1683 EXON Missense_R787C,Missense_R741C,Missense_R787C exm1444892 19 18376374 [T/C] NM_001145304,NM_001145305,NM_025249 KIAA1683,KIAA1683,KIAA1683 EXON Missense_R659Q,Missense_R613Q,Missense_R659Q exm1444895 19 18376407 [T/A] NM_001145304,NM_001145305,NM_025249 KIAA1683,KIAA1683,KIAA1683 EXON Missense_Y648F,Missense_Y602F,Missense_Y648F exm1444896 19 18376411 [T/C] NM_001145304,NM_001145305,NM_025249 KIAA1683,KIAA1683,KIAA1683 EXON Missense_V647M,Missense_V601M,Missense_V647M exm1444903 19 18376509 [A/G] NM_001145304,NM_001145305,NM_025249 KIAA1683,KIAA1683,KIAA1683 EXON Missense_A614V,Missense_A568V,Missense_A614V exm1444906 19 18376522 [T/G] NM_001145304,NM_001145305,NM_025249 KIAA1683,KIAA1683,KIAA1683 EXON Missense_T610P,Missense_T564P,Missense_T610P exm1444913 19 18376629 [T/C] NM_001145304,NM_001145305,NM_025249 KIAA1683,KIAA1683,KIAA1683 EXON Missense_Y574C,Missense_Y528C,Missense_Y574C exm1444917 19 18376713 [A/G] NM_001145304,NM_001145305,NM_025249 KIAA1683,KIAA1683,KIAA1683 EXON Missense_S546F,Missense_S500F,Missense_S546F exm1444919 19 18376780 [T/C] NM_001145304,NM_001145305,NM_025249 KIAA1683,KIAA1683,KIAA1683 EXON Missense_T524A,Missense_T478A,Missense_T524A exm1444921 19 18376825 [A/G] NM_001145304,NM_001145305,NM_025249 KIAA1683,KIAA1683,KIAA1683 EXON Missense_R509C,Missense_R463C,Missense_R509C exm1444923 19 18376863 [A/C] NM_001145304,NM_001145305,NM_025249 KIAA1683,KIAA1683,KIAA1683 EXON Missense_R496L,Missense_R450L,Missense_R496L exm1444931 19 18377067 [A/C] NM_001145304,NM_001145305,NM_025249 KIAA1683,KIAA1683,KIAA1683 EXON Missense_R428L,Missense_R382L,Missense_R428L exm1444933 19 18377079 [A/G] NM_001145304,NM_001145305,NM_025249 KIAA1683,KIAA1683,KIAA1683 EXON Missense_T424M,Missense_T378M,Missense_T424M exm1444940 19 18377202 [A/G] NM_001145304,NM_001145305,NM_025249 KIAA1683,KIAA1683,KIAA1683 EXON Missense_P383L,Missense_P337L,Missense_P383L exm1444941 19 18377274 [A/G] NM_001145304,NM_001145305,NM_025249 KIAA1683,KIAA1683,KIAA1683 EXON Missense_M359T,Missense_M313T,Missense_M359T exm1444949 19 18377496 [G/C] NM_001145304,NM_001145305,NM_025249 KIAA1683,KIAA1683,KIAA1683 EXON Missense_S285T,Missense_S239T,Missense_S285T exm1444952 19 18377536 [T/C] NM_001145304,NM_001145305,NM_025249 KIAA1683,KIAA1683,KIAA1683 EXON Missense_V272I,Missense_V226I,Missense_V272I exm1444958 19 18377647 [C/G] NM_001145304,NM_001145305,NM_025249 KIAA1683,KIAA1683,KIAA1683 EXON Missense_L235V,Missense_L189V,Missense_L235V exm1444971 19 18377791 [T/C] NM_001145304,NM_001145305,NM_025249 KIAA1683,KIAA1683,KIAA1683 EXON Missense_M187V,Missense_M141V,Missense_M187V exm2253706 19 18377798 [T/C] NM_001145304,NM_001145305,NM_025249 KIAA1683,KIAA1683,KIAA1683 EXON Synonymous_P184P,Synonymous_P138P,Synonymous_P184P exm1444977 19 18377898 [A/G] NM_001145304,NM_001145305,NM_025249 KIAA1683,KIAA1683,KIAA1683 EXON Missense_S151L,Missense_S105L,Missense_S151L exm1444990 19 18378054 [A/G] NM_001145304,NM_001145305,NM_025249 KIAA1683,KIAA1683,KIAA1683 EXON Missense_M99T,Missense_M53T,Missense_M99T exm1444997 19 18378117 [T/C] NM_001145304,NM_001145305,NM_025249 KIAA1683,KIAA1683,KIAA1683 EXON Missense_R78H,Missense_R32H,Missense_R78H exm2228636 19 18378201 [A/G] NM_001145304,NM_001145305,NM_025249 KIAA1683,KIAA1683,KIAA1683 EXON Missense_A50V,Missense_A4V,Missense_A50V exm1445005 19 18378219 [A/G] NM_001145304,NM_001145305,NM_025249 KIAA1683,KIAA1683,KIAA1683 EXON Missense_L44P,Silent,Missense_L44P exm1445007 19 18378235 [T/C] NM_001145304,NM_001145305,NM_025249 KIAA1683,KIAA1683,KIAA1683 EXON Missense_A39T,Silent,Missense_A39T exm2228637 19 18378247 [A/G] NM_001145304,NM_001145305,NM_025249 KIAA1683,KIAA1683,KIAA1683 EXON Missense_P35S,Silent,Missense_P35S exm1445009 19 18378255 [A/G] NM_001145304,NM_001145305,NM_025249 KIAA1683,KIAA1683,KIAA1683 EXON Missense_A32V,Silent,Missense_A32V exm1445013 19 18378318 [T/C] NM_001145304,NM_001145305,NM_025249 KIAA1683,KIAA1683,KIAA1683 EXON Missense_G11D,Silent,Missense_G11D exm1445014 19 18378319 [C/G] NM_001145304,NM_001145305,NM_025249 KIAA1683,KIAA1683,KIAA1683 EXON Missense_G11R,Silent,Missense_G11R exm1445015 19 18378321 [A/G] NM_001145304,NM_001145305,NM_025249 KIAA1683,KIAA1683,KIAA1683 EXON Missense_S10F,Silent,Missense_S10F exm2228638 19 18385214 [T/C] NM_001145304,NM_001145305,NM_025249 KIAA1683,KIAA1683,KIAA1683 EXON Silent,Silent,Silent exm1445020 19 18391285 [T/C] NM_005354 JUND EXON Missense_Q337R exm1445025 19 18391390 [A/G] NM_005354 JUND EXON Missense_T302I exm-rs7248363 19 18467886 [T/C] NM_017712 PGPEP1 Silent exm1445097 19 18468332 [C/G] NM_017712 PGPEP1 EXON Missense_S115T exm1445104 19 18474247 [A/G] NM_017712 PGPEP1 EXON Missense_G162S exm1445113 19 18474346 [T/C] NM_017712 PGPEP1 EXON Missense_L195F exm1445132 19 18497141 [A/T] NM_004864 GDF15 EXON Missense_S48T exm1445136 19 18497184 [A/C] NM_004864 GDF15 EXON Missense_D62A exm1445143 19 18499119 [G/C] NM_004864 GDF15 EXON Missense_L101V exm1445147 19 18499168 [A/C] NM_004864 GDF15 EXON Missense_A117D exm1445152 19 18499305 [T/C] NM_004864 GDF15 EXON Missense_P163S exm1445180 19 18502835 [A/G] NM_145256 LRRC25 EXON Missense_P294S exm1445183 19 18502861 [T/C] NM_145256 LRRC25 EXON Missense_C285Y exm1445195 19 18507074 [T/G] NM_145256 LRRC25 EXON Missense_P234T exm1445200 19 18507105 [G/C] NM_145256 LRRC25 EXON Missense_S223R exm1445203 19 18507136 [G/C] NM_145256 LRRC25 EXON Missense_P213R exm1445205 19 18507178 [C/G] NM_145256 LRRC25 EXON Missense_R199P exm1445211 19 18507367 [A/G] NM_145256 LRRC25 EXON Missense_P136L exm1445219 19 18507715 [T/C] NM_145256 LRRC25 EXON Missense_S20N exm1927711 19 18507751 [A/G] NM_145256 LRRC25 EXON Missense_T8M exm1445222 19 18507752 [T/C] NM_145256 LRRC25 EXON Missense_T8A exm1445233 19 18538708 [T/C] NM_001009998,NM_032627 SSBP4,SSBP4 EXON Synonymous_C65C,Synonymous_C65C exm1445250 19 18542208 [A/G] NM_001009998,NM_032627 SSBP4,SSBP4 EXON Silent,Missense_M139V exm1445273 19 18542996 [A/G] NM_001009998,NM_032627 SSBP4,SSBP4 EXON Missense_A204T,Missense_A226T exm1445280 19 18543389 [T/C] NM_001009998,NM_032627 SSBP4,SSBP4 EXON Missense_P220L,Missense_P242L exm1445291 19 18543831 [A/G] NM_001009998,NM_032627 SSBP4,SSBP4 EXON Missense_G275E,Missense_G297E exm2253707 19 18543841 [T/C] NM_001009998,NM_032627 SSBP4,SSBP4 EXON Synonymous_A278A,Synonymous_A300A exm2276622 19 18546125 [C/G] NM_001170938,NM_016368,NR_045574,NM_001253389,NR_045573 ISYNA1,ISYNA1,ISYNA1,ISYNA1,ISYNA1 EXON Missense_V421L,Missense_V475L,Silent,Missense_V347L,Silent exm1445325 19 18546201 [G/C] NM_001170938,NM_016368,NR_045574,NM_001253389,NR_045573 ISYNA1,ISYNA1,ISYNA1,ISYNA1,ISYNA1 EXON Missense_E395D,Missense_E449D,Silent,Missense_E321D,Silent exm1445327 19 18546210 [T/C] NM_001170938,NM_016368,NR_045574,NM_001253389,NR_045573 ISYNA1,ISYNA1,ISYNA1,ISYNA1,ISYNA1 EXON Missense_M392I,Missense_M446I,Silent,Missense_M318I,Silent exm1445342 19 18546847 [T/G] NM_001170938,NM_016368,NR_045574,NM_001253389,NR_045573 ISYNA1,ISYNA1,ISYNA1,ISYNA1,ISYNA1 EXON Missense_L270I,Missense_L324I,Silent,Missense_L196I,Silent exm1445357 19 18547264 [T/C] NM_001170938,NM_016368,NR_045574,NM_001253389,NR_045573 ISYNA1,ISYNA1,ISYNA1,ISYNA1,ISYNA1 EXON Missense_R158Q,Missense_R212Q,Silent,Missense_R84Q,Silent exm2228644 19 18547911 [C/G] NM_001170938,NM_016368,NR_045574,NM_001253389,NR_045573 ISYNA1,ISYNA1,ISYNA1,ISYNA1,ISYNA1 EXON Missense_A42G,Missense_A96G,Silent,Silent,Silent exm1445385 19 18548777 [T/C] NM_001170938,NM_016368,NR_045574,NR_045573 ISYNA1,ISYNA1,ISYNA1,ISYNA1 EXON Missense_A5T,Missense_A5T,Silent,Silent exm1445391 19 18557180 [T/C] NM_006532 ELL EXON Missense_R548Q exm1445405 19 18557573 [A/G] NM_006532 ELL EXON Missense_T506M exm1445408 19 18557592 [G/C] NM_006532 ELL EXON Missense_P500A exm1445409 19 18557617 [A/G] NM_006532 ELL EXON Synonymous_N491N exm1445436 19 18561729 [T/C] NM_006532 ELL EXON Missense_I341M exm2253708 19 18562392 [A/G] NM_006532 ELL EXON Synonymous_G312G exm1445456 19 18572405 [T/C] NM_006532 ELL EXON Missense_D243N exm1445457 19 18572428 [A/G] NM_006532 ELL EXON Missense_T235M exm1445480 19 18576691 [A/G] NM_006532 ELL EXON Missense_A74V exm1445486 19 18583664 [T/C] NM_006532 ELL EXON Missense_R55Q exm1445534 19 18649227 [C/G] NM_012181 FKBP8 EXON Missense_P191A exm1445536 19 18650224 [T/C] NM_012181 FKBP8 EXON Missense_M170V exm1445542 19 18650473 [A/G] NM_012181 FKBP8 EXON Missense_P117L exm2260835 19 18651116 [T/G] NM_012181 FKBP8 Silent exm1445547 19 18652521 [A/G] NM_012181 FKBP8 EXON Missense_A87V exm1445564 19 18672894 [G/C] NM_024069,NM_001171949,NM_001171948 KXD1,KXD1,KXD1 EXON Missense_V10L,Missense_V10L,Missense_V10L exm1445572 19 18675825 [A/G] NM_024069,NM_001171949,NM_001171948 KXD1,KXD1,KXD1 EXON Missense_R83H,Missense_R83H,Missense_R83H exm1445593 19 18679379 [C/G] NM_024069,NM_001171949,NM_001171948 KXD1,KXD1,KXD1 EXON Missense_P157A,Missense_P157A,Missense_P157A exm1445597 19 18679413 [G/C] NM_024069,NM_001171949,NM_001171948 KXD1,KXD1,KXD1 EXON Missense_T168R,Missense_T168R,Missense_T168R exm1445599 19 18679436 [A/G] NM_024069,NM_001171949,NM_001171948 KXD1,KXD1,KXD1 EXON Missense_E176K,Missense_E176K,Missense_E176K exm1445629 19 18700317 [G/C] NM_001100419,NM_001100418 C19orf60,C19orf60 EXON Missense_P71A,Missense_P93A exm1445633 19 18701700 [A/G] NM_001100419,NM_001100418 C19orf60,C19orf60 EXON Missense_A142T,Missense_A164T exm1445634 19 18701712 [A/G] NM_001100419,NM_001100418 C19orf60,C19orf60 EXON Missense_D146N,Missense_D168N exm1445672 19 18709272 [T/C] NM_004750 CRLF1 EXON Missense_D223N exm2275054 19 18709278 [A/G] NM_004750 CRLF1 EXON Missense_R221C exm2228653 19 18709610 [T/C] NM_004750 CRLF1 EXON Missense_T167A exm1445688 19 18710416 [T/C] NM_004750 CRLF1 EXON Missense_R119H exm1927910 19 18710461 [T/C] NM_004750 CRLF1 EXON Missense_N104S exm1445690 19 18710506 [T/C] NM_004750 CRLF1 EXON Missense_R89H exm1445711 19 18724695 [A/G] NM_012109 TMEM59L EXON Missense_G62D exm1445717 19 18724956 [T/G] NM_012109 TMEM59L EXON Missense_C120F exm1927921 19 18726857 [A/G] NM_012109 TMEM59L EXON Missense_V161I exm1445726 19 18727850 [A/G] NM_012109 TMEM59L EXON Missense_R201H exm1445728 19 18727858 [T/C] NM_012109 TMEM59L EXON Missense_R204C exm1445730 19 18727861 [A/G] NM_012109 TMEM59L EXON Missense_V205M exm1445737 19 18729007 [A/G] NM_012109 TMEM59L EXON Missense_R236Q exm1445738 19 18729028 [T/C] NM_012109 TMEM59L EXON Missense_A243V exm2228655 19 18778532 [G/C] NM_018316 KLHL26 EXON Missense_V109L exm1445771 19 18778551 [A/G] NM_018316 KLHL26 EXON Missense_R115Q exm1445774 19 18778607 [T/C] NM_018316 KLHL26 EXON Nonsense_Q134X exm1445802 19 18778937 [G/C] NM_018316 KLHL26 EXON Missense_A244P exm1927959 19 18779240 [A/G] NM_018316 KLHL26 EXON Missense_T345A exm1445844 19 18779631 [A/G] NM_018316 KLHL26 EXON Missense_K475R exm1927963 19 18779799 [A/T] NM_018316 KLHL26 EXON Missense_Y531F exm-rs10423674 19 18817903 [A/C] NM_015321,NM_001098482 CRTC1,CRTC1 Silent,Silent exm1445869 19 18853719 [A/G] NM_015321,NM_001098482 CRTC1,CRTC1 Silent,Silent exm1445892 19 18864361 [A/G] NM_015321,NM_001098482 CRTC1,CRTC1 EXON Missense_K197R,Missense_K213R exm1445910 19 18876258 [A/G] NM_015321,NM_001098482 CRTC1,CRTC1 EXON Missense_V311I,Missense_V327I exm1445914 19 18876306 [T/C] NM_015321,NM_001098482 CRTC1,CRTC1 EXON Missense_P327S,Missense_P343S exm1445915 19 18876309 [A/G] NM_015321,NM_001098482 CRTC1,CRTC1 EXON Missense_T328A,Missense_T344A exm1445957 19 18893732 [T/C] NM_000095 COMP EXON Missense_Q756R exm1445958 19 18893736 [A/G] NM_000095 COMP EXON Missense_R755W exm1445973 19 18895040 [C/G] NM_000095 COMP EXON Missense_R683P exm1445977 19 18895100 [A/T] NM_000095 COMP EXON Missense_Q663L exm1445978 19 18895109 [G/C] NM_000095 COMP EXON Missense_T660R exm1445983 19 18895726 [T/C] NM_000095 COMP EXON Missense_E632K exm1445986 19 18895749 [C/G] NM_000095 COMP EXON Missense_A624G exm1446000 19 18896776 [T/G] NM_000095 COMP EXON Missense_D496E exm2228657 19 18897349 [T/G] NM_000095 COMP EXON Missense_P416Q exm1446009 19 18897440 [T/C] NM_000095 COMP EXON Missense_N386D exm1446015 19 18898391 [T/G] NM_000095 COMP EXON Nonsense_C348X exm1446031 19 18899986 [T/C] NM_000095 COMP EXON Missense_A171T exm1446035 19 18900101 [G/C] NM_000095 COMP EXON Missense_N132K exm1446037 19 18900759 [T/C] NM_000095 COMP EXON Missense_V128I exm1446164 19 18976484 [T/C] NM_002911 UPF1 EXON Missense_A1045V exm1446189 19 18980172 [A/G] NM_021267,NM_001492 CERS1,GDF1 EXON Silent,Missense_A118V exm2228661 19 18990093 [A/G] NM_021267,NM_001492,NM_198207 CERS1,GDF1,CERS1 EXON Missense_A286V,Silent,Missense_A286V exm1446217 19 18990163 [T/C] NM_021267,NM_001492,NM_198207 CERS1,GDF1,CERS1 EXON Missense_V263I,Silent,Missense_V263I exm1446231 19 18994968 [T/C] NM_021267,NM_001492,NM_198207 CERS1,GDF1,CERS1 EXON Missense_R173H,Silent,Missense_R173H exm2253710 19 18994994 [A/G] NM_021267,NM_001492,NM_198207 CERS1,GDF1,CERS1 EXON Synonymous_Y164Y,Silent,Synonymous_Y164Y exm2272768 19 19000152 [T/C] NM_021267,NM_001492,NM_198207 CERS1,GDF1,CERS1 Silent,Silent,Silent exm1446238 19 19004225 [T/C] NM_021267,NM_001492,NM_198207 CERS1,GDF1,CERS1 EXON Missense_D137N,Silent,Missense_D137N exm1446241 19 19004285 [A/C] NM_021267,NM_001492,NM_198207 CERS1,GDF1,CERS1 EXON Missense_A117S,Silent,Missense_A117S exm1446268 19 19014109 [T/C] NM_199442,NM_199444,NM_007263 COPE,COPE,COPE EXON Missense_A184T,Silent,Missense_A235T exm1446270 19 19014120 [T/C] NM_199442,NM_199444,NM_007263 COPE,COPE,COPE EXON Missense_R180H,Silent,Missense_R231H exm1446290 19 19016397 [A/G] NM_199442,NM_199444,NM_007263 COPE,COPE,COPE EXON Missense_L111P,Missense_L162P,Missense_L162P exm1446299 19 19017814 [A/G] NM_199442,NM_199444,NM_007263 COPE,COPE,COPE EXON Silent,Missense_P133L,Missense_P133L exm1446302 19 19017833 [A/G] NM_199442,NM_199444,NM_007263 COPE,COPE,COPE EXON Silent,Missense_Y127H,Missense_Y127H exm1446303 19 19017862 [A/G] NM_199442,NM_199444,NM_007263 COPE,COPE,COPE EXON Silent,Missense_T117I,Missense_T117I exm1446304 19 19017899 [C/G] NM_199442,NM_199444,NM_007263 COPE,COPE,COPE EXON Silent,Missense_D105H,Missense_D105H exm1446309 19 19021784 [A/G] NM_199442,NM_199444,NM_007263 COPE,COPE,COPE EXON Missense_R96W,Missense_R96W,Missense_R96W exm1446311 19 19021816 [T/C] NM_199442,NM_199444,NM_007263 COPE,COPE,COPE EXON Missense_R85H,Missense_R85H,Missense_R85H exm1446318 19 19023812 [T/C] NM_199442,NM_199444,NM_007263 COPE,COPE,COPE EXON Missense_Y57C,Missense_Y57C,Missense_Y57C exm1446323 19 19030120 [G/C] NM_199442,NM_199444,NM_007263 COPE,COPE,COPE EXON Missense_S13C,Missense_S13C,Missense_S13C exm1446333 19 19030611 [A/G] NR_033677,NM_019070 DDX49,DDX49 EXON Silent,Missense_G21S exm1446339 19 19031448 [T/C] NR_033677,NM_019070 DDX49,DDX49 EXON Silent,Missense_P59S exm1446340 19 19031455 [T/C] NR_033677,NM_019070 DDX49,DDX49 EXON Silent,Missense_L61S exm1446367 19 19033442 [A/G] NR_033677,NM_019070 DDX49,DDX49 EXON Silent,Missense_R222H exm1446370 19 19033544 [A/G] NR_033677,NM_019070 DDX49,DDX49 EXON Silent,Missense_N256S exm1446388 19 19035508 [A/G] NR_033677,NM_019070 DDX49,DDX49 EXON Silent,Missense_R310Q exm1446392 19 19037115 [A/G] NR_033677,NM_019070 DDX49,DDX49 EXON Silent,Missense_R344Q exm1446400 19 19038598 [A/G] NR_033677,NM_019070 DDX49,DDX49 EXON Silent,Missense_V376M exm1446404 19 19038819 [T/C] NR_033677,NM_019070 DDX49,DDX49 EXON Silent,Missense_R413W exm1446411 19 19038959 [A/G] NR_033677,NM_019070 DDX49,DDX49 EXON Silent,Missense_R429H exm1446413 19 19039030 [T/C] NR_033677,NM_019070 DDX49,DDX49 EXON Silent,Nonsense_R453X exm1446414 19 19039031 [A/G] NR_033677,NM_019070 DDX49,DDX49 EXON Silent,Missense_R453Q exm1446417 19 19039064 [A/G] NR_033677,NM_019070 DDX49,DDX49 EXON Silent,Missense_R464H exm1446418 19 19039072 [A/G] NR_033677,NM_019070 DDX49,DDX49 EXON Silent,Missense_R467G exm1446428 19 19040312 [C/G] NM_001145724,NM_004838,NM_001145721,NR_027297,NM_001145722 HOMER3,HOMER3,HOMER3,HOMER3,HOMER3 EXON Missense_S306R,Missense_S342R,Missense_S339R,Silent,Missense_S342R exm1446438 19 19042160 [A/G] NM_001145724,NM_004838,NM_001145721,NR_027297,NM_001145722 HOMER3,HOMER3,HOMER3,HOMER3,HOMER3 EXON Missense_R254C,Missense_R290C,Missense_R290C,Silent,Missense_R290C exm1446455 19 19042397 [T/G] NM_001145724,NM_004838,NM_001145721,NR_027297,NM_001145722 HOMER3,HOMER3,HOMER3,HOMER3,HOMER3 EXON Missense_T207N,Missense_T243N,Missense_T243N,Silent,Missense_T243N exm1446466 19 19043769 [A/G] NM_001145724,NM_004838,NM_001145721,NR_027297,NM_001145722 HOMER3,HOMER3,HOMER3,HOMER3,HOMER3 EXON Missense_T130I,Missense_T166I,Missense_T166I,Silent,Missense_T166I exm1446470 19 19043836 [T/C] NM_001145724,NM_004838,NM_001145721,NR_027297,NM_001145722 HOMER3,HOMER3,HOMER3,HOMER3,HOMER3 EXON Missense_V108I,Missense_V144I,Missense_V144I,Silent,Missense_V144I exm2253712 19 19045154 [A/G] NM_001145724,NM_004838,NM_001145721,NR_027297,NM_001145722 HOMER3,HOMER3,HOMER3,HOMER3,HOMER3 EXON Silent,Synonymous_G123G,Synonymous_G123G,Silent,Synonymous_G123G exm1446493 19 19049619 [A/G] NM_001145724,NM_004838,NM_001145721,NR_027297,NM_001145722 HOMER3,HOMER3,HOMER3,HOMER3,HOMER3 EXON Missense_A30V,Missense_A30V,Missense_A30V,Silent,Missense_A30V exm1446512 19 19106080 [A/C] NM_014884,NM_001017392 SUGP2,SUGP2 EXON Missense_D1001Y,Missense_D1001Y exm1446522 19 19115072 [A/C] NM_014884,NM_001017392 SUGP2,SUGP2 EXON Missense_G945V,Missense_G945V exm1928284 19 19115094 [T/C] NM_014884,NM_001017392 SUGP2,SUGP2 EXON Missense_A938T,Missense_A938T exm1446535 19 19115264 [T/C] NM_014884,NM_001017392 SUGP2,SUGP2 EXON Missense_R881Q,Missense_R881Q exm1446542 19 19115337 [T/C] NM_014884,NM_001017392 SUGP2,SUGP2 EXON Missense_T857A,Missense_T857A exm1928288 19 19115375 [A/G] NM_014884,NM_001017392 SUGP2,SUGP2 EXON Missense_T844M,Missense_T844M exm1446552 19 19120837 [T/C] NM_014884,NM_001017392 SUGP2,SUGP2 EXON Missense_Q722R,Missense_Q722R exm1446557 19 19120913 [T/C] NM_014884,NM_001017392 SUGP2,SUGP2 EXON Missense_T697A,Missense_T697A exm1446559 19 19120936 [T/C] NM_014884,NM_001017392 SUGP2,SUGP2 EXON Missense_R689Q,Missense_R689Q exm1928299 19 19120943 [G/C] NM_014884,NM_001017392 SUGP2,SUGP2 EXON Missense_G687R,Missense_G687R exm1446563 19 19121000 [A/G] NM_014884,NM_001017392 SUGP2,SUGP2 EXON Missense_R668C,Missense_R668C exm1446568 19 19121056 [T/C] NM_014884,NM_001017392 SUGP2,SUGP2 EXON Missense_Q649R,Missense_Q649R exm1446569 19 19121084 [T/C] NM_014884,NM_001017392 SUGP2,SUGP2 EXON Missense_M640V,Missense_M640V exm1928302 19 19121086 [T/C] NM_014884,NM_001017392 SUGP2,SUGP2 EXON Missense_R639Q,Missense_R639Q exm1446570 19 19121134 [T/C] NM_014884,NM_001017392 SUGP2,SUGP2 EXON Missense_N623S,Missense_N623S exm1446576 19 19135491 [T/C] NM_014884,NM_001017392 SUGP2,SUGP2 EXON Missense_E556K,Missense_E556K exm1446578 19 19135502 [A/G] NM_014884,NM_001017392 SUGP2,SUGP2 EXON Missense_M552T,Missense_M552T exm1446579 19 19135527 [T/C] NM_014884,NM_001017392 SUGP2,SUGP2 EXON Missense_V544I,Missense_V544I exm1446582 19 19135544 [T/C] NM_014884,NM_001017392 SUGP2,SUGP2 EXON Missense_S538N,Missense_S538N exm1446595 19 19136099 [C/G] NM_014884,NM_001017392 SUGP2,SUGP2 EXON Missense_T353S,Missense_T353S exm1446605 19 19136376 [T/G] NM_014884,NM_001017392 SUGP2,SUGP2 EXON Missense_I261L,Missense_I261L exm1446611 19 19136501 [A/G] NM_014884,NM_001017392 SUGP2,SUGP2 EXON Missense_V219A,Missense_V219A exm1446613 19 19136516 [T/C] NM_014884,NM_001017392 SUGP2,SUGP2 EXON Missense_R214Q,Missense_R214Q exm1446614 19 19136541 [T/C] NM_014884,NM_001017392 SUGP2,SUGP2 EXON Missense_G206S,Missense_G206S exm1446616 19 19136573 [T/C] NM_014884,NM_001017392 SUGP2,SUGP2 EXON Missense_H195R,Missense_H195R exm1446624 19 19136771 [G/C] NM_014884,NM_001017392 SUGP2,SUGP2 EXON Missense_G129A,Missense_G129A exm1928334 19 19141819 [T/C] NM_014884,NM_001017392 SUGP2,SUGP2 EXON Missense_R21Q,Missense_R21Q exm1446643 19 19145021 [A/G] NM_033415,NM_001199196 ARMC6,ARMC6 EXON Silent,Missense_M1I exm1446645 19 19153585 [C/G] NM_033415,NM_001199196 ARMC6,ARMC6 EXON Missense_A7G,Missense_A32G exm1446657 19 19162534 [A/G] NM_033415,NM_001199196 ARMC6,ARMC6 EXON Missense_R103H,Missense_R128H exm1446675 19 19162971 [A/G] NM_033415,NM_001199196 ARMC6,ARMC6 EXON Missense_K249E,Missense_K274E exm1446695 19 19166152 [A/G] NM_033415,NM_001199196 ARMC6,ARMC6 EXON Missense_G343S,Missense_G368S exm1446701 19 19166642 [T/C] NM_033415,NM_001199196 ARMC6,ARMC6 EXON Missense_R375C,Missense_R400C exm1446710 19 19168228 [A/C] NM_033415,NM_001199196 ARMC6,ARMC6 EXON Missense_Q408K,Missense_Q433K exm1446719 19 19168351 [A/G] NM_033415,NM_001199196 ARMC6,ARMC6 EXON Missense_V449M,Missense_V474M exm1446733 19 19206959 [T/C] NM_178526 SLC25A42 EXON Missense_P9L exm1446756 19 19217178 [A/G] NM_178526 SLC25A42 EXON Missense_V161I exm1446761 19 19218779 [T/C] NM_178526 SLC25A42 EXON Missense_P192S exm1446765 19 19218853 [A/C] NM_178526 SLC25A42 EXON Missense_R216S exm1446773 19 19221555 [A/G] NM_178526 SLC25A42 EXON Missense_R276Q exm1446783 19 19230816 [T/C] NM_001256766,NM_017814 TMEM161A,TMEM161A EXON Missense_I352V,Missense_I455V exm1446793 19 19230980 [T/C] NM_001256766,NM_017814 TMEM161A,TMEM161A EXON Nonsense_W297X,Nonsense_W400X exm1446794 19 19231672 [T/C] NM_001256766,NM_017814 TMEM161A,TMEM161A Silent,Silent exm1446798 19 19231907 [C/G] NM_001256766,NM_017814 TMEM161A,TMEM161A EXON Missense_A225G,Missense_A328G exm1446818 19 19232449 [T/C] NM_001256766,NM_017814 TMEM161A,TMEM161A EXON Missense_V126M,Missense_V229M exm1446820 19 19232452 [A/G] NM_001256766,NM_017814 TMEM161A,TMEM161A EXON Missense_R125C,Missense_R228C exm1446823 19 19232622 [A/G] NM_001256766,NM_017814 TMEM161A,TMEM161A EXON Missense_A98V,Missense_A201V exm1928419 19 19241070 [G/C] NM_001256766,NM_017814 TMEM161A,TMEM161A EXON Silent,Missense_G164R exm1446848 19 19243311 [T/C] NM_001256766,NM_017814 TMEM161A,TMEM161A EXON Silent,Missense_R98H exm1446858 19 19243970 [C/G] NM_001256766,NM_017814 TMEM161A,TMEM161A EXON Missense_G53R,Missense_G53R exm1928433 19 19245624 [A/G] NM_001256766,NM_017814 TMEM161A,TMEM161A EXON Missense_S26P,Missense_S26P exm1446896 19 19256812 [T/C] NR_027307,NM_005919,NR_027308,NM_001145785 MEF2BNB-MEF2B,MEF2BNB-MEF2B,MEF2BNB-MEF2B,MEF2B EXON Silent,Synonymous_A263A,Silent,Missense_E301K exm1446909 19 19257646 [A/T] NR_027307,NM_005919,NR_027308,NM_001145785 MEF2BNB-MEF2B,MEF2BNB-MEF2B,MEF2BNB-MEF2B,MEF2B EXON Silent,Missense_S194C,Silent,Missense_S194C exm1446954 19 19291568 [A/G] NR_027307,NM_005919,NR_027308,NM_001145784 MEF2BNB-MEF2B,MEF2BNB-MEF2B,MEF2BNB-MEF2B,MEF2BNB EXON Silent,Silent,Silent,Missense_P110L exm1446970 19 19304850 [T/C] NM_134440,NM_003721 RFXANK,RFXANK EXON Missense_A32V,Missense_A32V exm1446972 19 19304899 [C/G] NM_134440,NM_003721 RFXANK,RFXANK EXON Missense_E48D,Missense_E48D exm1446985 19 19308341 [A/G] NM_134440,NM_003721 RFXANK,RFXANK EXON Missense_V94I,Missense_V117I exm1446991 19 19308922 [A/G] NM_134440,NM_003721 RFXANK,RFXANK EXON Missense_D126N,Missense_D149N exm1446995 19 19309006 [G/C] NM_134440,NM_003721 RFXANK,RFXANK EXON Missense_L154V,Missense_L177V exm1928468 19 19309012 [T/C] NM_134440,NM_003721 RFXANK,RFXANK EXON Missense_R156C,Missense_R179C exm1447006 19 19310037 [T/C] NM_134440,NM_003721 RFXANK,RFXANK EXON Missense_R213W,Missense_R236W exm1447009 19 19312471 [C/G] NM_134440,NM_003721,NM_176880 RFXANK,RFXANK,NR2C2AP EXON Missense_I219M,Missense_I242M,Silent exm1447010 19 19312496 [G/C] NM_134440,NM_003721,NM_176880 RFXANK,RFXANK,NR2C2AP EXON Missense_Q228E,Missense_Q251E,Silent exm1447013 19 19312523 [A/G] NM_134440,NM_003721,NM_176880 RFXANK,RFXANK,NR2C2AP EXON Missense_E237K,Missense_E260K,Silent exm1447026 19 19313294 [A/G] NM_176880 NR2C2AP EXON Missense_R74W exm1447044 19 19329741 [A/G] NM_004386 NCAN EXON Missense_D31N exm2228677 19 19329847 [A/G] NM_004386 NCAN EXON Missense_R66Q exm1447049 19 19329862 [A/G] NM_004386 NCAN EXON Missense_R71Q exm1447050 19 19329901 [T/C] NM_004386 NCAN EXON Missense_A84V exm1447053 19 19329924 [T/C] NM_004386 NCAN EXON Missense_P92S exm1447058 19 19330002 [T/C] NM_004386 NCAN EXON Missense_R118W exm1928510 19 19337790 [T/C] NM_004386 NCAN EXON Missense_P523L exm1447115 19 19337864 [T/G] NM_004386 NCAN EXON Missense_V548L exm1447132 19 19338426 [T/C] NM_004386 NCAN EXON Missense_T666M exm1447136 19 19338506 [A/G] NM_004386 NCAN EXON Missense_A693T exm1928516 19 19338693 [A/G] NM_004386 NCAN EXON Missense_G755E exm1447153 19 19338942 [A/G] NM_004386 NCAN EXON Missense_S838N exm1447158 19 19339050 [T/C] NM_004386 NCAN EXON Missense_T874M exm1447160 19 19339052 [A/T] NM_004386 NCAN EXON Missense_T875S exm1928532 19 19344693 [A/G] NM_004386 NCAN EXON Missense_A1039T exm1447180 19 19349167 [T/G] NM_004386 NCAN EXON Missense_R1119L exm1447196 19 19356173 [A/G] NM_004386 NCAN EXON Missense_E1182K exm1447199 19 19356209 [T/C] NM_004386 NCAN EXON Missense_R1194C exm1447212 19 19359691 [T/C] NM_004386 NCAN EXON Missense_P1274S exm1447221 19 19360683 [T/C] NM_004386 NCAN EXON Missense_T1310M exm-rs1064395 19 19361735 [A/G] NM_004386 NCAN EXON Silent exm1447239 19 19368999 [T/C] NM_023002 HAPLN4 EXON Missense_K279R exm1928553 19 19369360 [A/G] NM_023002 HAPLN4 EXON Synonymous_D263D exm1447240 19 19369401 [T/G] NM_023002 HAPLN4 EXON Missense_R250S exm1447253 19 19371688 [A/G] NM_023002 HAPLN4 EXON Missense_R140C exm1447254 19 19371709 [T/C] NM_023002 HAPLN4 EXON Missense_V133I exm1447265 19 19371916 [T/C] NM_023002 HAPLN4 EXON Missense_I64V exm1447269 19 19372296 [T/G] NM_023002 HAPLN4 EXON Missense_A27E exm1447280 19 19375583 [T/G] NM_001001524 TM6SF2 EXON Missense_L342M exm1447282 19 19375600 [A/C] NM_001001524 TM6SF2 EXON Missense_F336C exm1447289 19 19377322 [A/C] NM_001001524 TM6SF2 EXON Missense_V301L exm1447296 19 19378456 [T/C] NM_001001524 TM6SF2 EXON Missense_D260N exm1447303 19 19378859 [A/G] NM_001001524 TM6SF2 EXON Missense_P216L exm1447310 19 19379518 [T/G] NM_001001524 TM6SF2 EXON Missense_P177H exm1447311 19 19379549 [T/C] NM_001001524 TM6SF2 EXON Missense_E167K exm1447319 19 19380563 [A/C] NM_001001524 TM6SF2 EXON Missense_N139K exm1447321 19 19380568 [A/G] NM_001001524 TM6SF2 EXON Missense_R138W exm1447331 19 19381028 [T/C] NM_001001524 TM6SF2 EXON Missense_V119I exm1447333 19 19381069 [T/C] NM_001001524 TM6SF2 EXON Missense_R105H exm1447334 19 19381182 [A/G] NM_001001524 TM6SF2 EXON Missense_V90A exm1447341 19 19381881 [A/G] NM_001001524 TM6SF2 EXON Missense_A50V exm1447342 19 19381885 [A/C] NM_001001524 TM6SF2 EXON Missense_V49L exm-rs10401969 19 19407718 [T/C] NM_172231 SUGP1 Silent exm1447385 19 19407915 [T/C] NM_172231 SUGP1 EXON Missense_A376T exm1447394 19 19408026 [A/G] NM_172231 SUGP1 EXON Missense_P339S exm1447396 19 19408044 [G/C] NM_172231 SUGP1 EXON Missense_G333R exm1447402 19 19413092 [T/C] NM_172231 SUGP1 EXON Missense_R290H exm1447415 19 19414582 [T/C] NM_172231 SUGP1 EXON Missense_E205K exm1447436 19 19416884 [A/G] NM_172231 SUGP1 EXON Synonymous_D104D exm1447439 19 19420981 [A/T] NM_172231 SUGP1 EXON Missense_I79F exm1928635 19 19420986 [A/G] NM_172231 SUGP1 EXON Missense_S77F exm1447441 19 19427232 [T/C] NM_172231 SUGP1 EXON Missense_E69K exm2228682 19 19427244 [A/G] NM_172231 SUGP1 EXON Missense_P65S exm1447469 19 19447991 [T/G] NM_015329 MAU2 EXON Missense_A125S exm2253715 19 19459727 [A/G] NM_015329 MAU2 EXON Synonymous_P446P exm2260836 19 19478022 [T/G] exm1447542 19 19576204 [A/G] NM_017660 GATAD2A EXON Missense_R17Q exm1447551 19 19576392 [A/G] NM_017660 GATAD2A EXON Missense_D80N exm1447553 19 19603128 [A/G] NM_017660 GATAD2A EXON Missense_E95K exm1447554 19 19603171 [A/G] NM_017660 GATAD2A EXON Missense_N109S exm1447574 19 19606991 [A/G] NM_017660 GATAD2A EXON Missense_N296S exm1447601 19 19612071 [T/C] NM_017660 GATAD2A EXON Missense_A449V exm1447609 19 19612826 [A/G] NM_017660 GATAD2A EXON Missense_D517N exm1447617 19 19613284 [A/G] NM_017660 GATAD2A EXON Missense_A574T exm1447618 19 19613287 [A/G] NM_017660 GATAD2A EXON Missense_G575S exm1447654 19 19625992 [A/C] NM_032037 TSSK6 EXON Missense_C82F exm1447695 19 19627121 [T/G] NM_015965 NDUFA13 EXON Missense_L25W exm1447731 19 19640201 [A/G] NM_198537,NM_001190328 YJEFN3,YJEFN3 EXON Missense_D30N,Silent exm1447732 19 19640271 [A/G] NM_198537,NM_001190328 YJEFN3,YJEFN3 EXON Missense_G53E,Silent exm1447735 19 19640309 [A/C] NM_198537,NM_001190328 YJEFN3,YJEFN3 EXON Missense_P66T,Silent exm1447736 19 19640319 [A/G] NM_198537,NM_001190328 YJEFN3,YJEFN3 EXON Missense_Q69R,Silent exm1447738 19 19643487 [T/C] NM_198537,NM_001190328 YJEFN3,YJEFN3 EXON Missense_R86C,Missense_R36C exm1447740 19 19643494 [A/G] NM_198537,NM_001190328 YJEFN3,YJEFN3 EXON Missense_G88E,Missense_G38E exm1447744 19 19645844 [T/C] NM_198537,NM_001190328 YJEFN3,YJEFN3 EXON Missense_A107V,Missense_A57V exm1447746 19 19645901 [T/C] NM_198537,NM_001190328 YJEFN3,YJEFN3 EXON Missense_P126L,Missense_P76L exm1447769 19 19646431 [A/G] NM_198537,NM_001190328 YJEFN3,YJEFN3 EXON Missense_A213T,Missense_A163T exm1447773 19 19646467 [A/G] NM_198537,NM_001190328 YJEFN3,YJEFN3 EXON Missense_V225M,Missense_V175M exm1447777 19 19648234 [C/G] NM_198537,NM_001190328 YJEFN3,YJEFN3 EXON Missense_H267Q,Missense_H217Q exm1447785 19 19651058 [A/G] NM_153221 CILP2 EXON Missense_G70D exm1447791 19 19651183 [T/C] NM_153221 CILP2 EXON Missense_R112C exm1447799 19 19653211 [T/C] NM_153221 CILP2 EXON Missense_P207L exm1447809 19 19653753 [A/G] NM_153221 CILP2 EXON Missense_G317R exm1447812 19 19654088 [C/G] NM_153221 CILP2 EXON Missense_A337P exm1447817 19 19654127 [T/C] NM_153221 CILP2 EXON Missense_R350C exm1447819 19 19654185 [A/G] NM_153221 CILP2 EXON Missense_R369H exm1447822 19 19654200 [A/G] NM_153221 CILP2 EXON Missense_R374Q exm1447825 19 19654517 [A/G] NM_153221 CILP2 EXON Missense_R388Q exm1447837 19 19654762 [T/C] NM_153221 CILP2 EXON Missense_P470S exm1447839 19 19654799 [G/C] NM_153221 CILP2 EXON Missense_A482G exm1447840 19 19654810 [A/G] NM_153221 CILP2 EXON Missense_E486K exm1447844 19 19654895 [T/C] NM_153221 CILP2 EXON Missense_P514L exm1447878 19 19655657 [C/G] NM_153221 CILP2 EXON Missense_A768G exm1447898 19 19655969 [T/C] NM_153221 CILP2 EXON Missense_A872V exm-rs16996148 19 19658472 [T/G] exm-rs17216525 19 19662220 [T/C] exm1447948 19 19675743 [A/G] NR_038198,NM_025245 PBX4,PBX4 EXON Silent,Synonymous_S308S exm2276624 19 19675769 [A/C] NR_038198,NM_025245 PBX4,PBX4 EXON Silent,Missense_A300S exm1447960 19 19680275 [T/C] NR_038198,NM_025245 PBX4,PBX4 EXON Silent,Missense_G251S exm1447962 19 19680287 [T/C] NR_038198,NM_025245 PBX4,PBX4 EXON Silent,Missense_A247T exm1447966 19 19680364 [A/G] NR_038198,NM_025245 PBX4,PBX4 EXON Silent,Missense_A221V exm1447967 19 19680382 [T/C] NR_038198,NM_025245 PBX4,PBX4 EXON Silent,Missense_R215Q exm1447979 19 19681084 [T/C] NR_038198,NM_025245 PBX4,PBX4 EXON Silent,Missense_V156I exm1447980 19 19681089 [A/G] NR_038198,NM_025245 PBX4,PBX4 EXON Silent,Missense_T154M exm1447983 19 19681463 [A/G] NR_038198,NM_025245 PBX4,PBX4 EXON Silent,Missense_S125P exm1928838 19 19681610 [A/G] NR_038198,NM_025245 PBX4,PBX4 EXON Silent,Missense_P76S exm1447991 19 19681635 [C/G] NR_038198,NM_025245 PBX4,PBX4 EXON Silent,Missense_S67R exm1447992 19 19681643 [G/C] NR_038198,NM_025245 PBX4,PBX4 Silent,Silent exm1448012 19 19735174 [T/C] NM_004720 LPAR2 EXON Missense_R316H exm1448016 19 19735201 [T/C] NM_004720 LPAR2 EXON Missense_R307H exm1448026 19 19737387 [A/G] NM_004720 LPAR2 EXON Missense_T236M exm1448028 19 19737465 [T/C] NM_004720 LPAR2 EXON Missense_R210H exm1448060 19 19740786 [T/C] NM_016573 GMIP EXON Missense_E967K exm1448061 19 19740804 [T/C] NM_016573 GMIP EXON Missense_V961I exm1448065 19 19740906 [A/G] NM_016573 GMIP EXON Missense_R927C exm1448068 19 19740959 [T/C] NM_016573 GMIP EXON Missense_R909Q exm1448069 19 19740971 [T/C] NM_016573 GMIP EXON Missense_R905K exm1448077 19 19741059 [T/C] NM_016573 GMIP EXON Missense_G876S exm1448078 19 19741070 [T/A] NM_016573 GMIP EXON Missense_Y872F exm1448080 19 19741085 [C/G] NM_016573 GMIP EXON Missense_R867P exm1448085 19 19741292 [G/C] NM_016573 GMIP EXON Missense_G843R exm2272769 19 19744452 [T/C] NM_016573 GMIP Silent exm1448088 19 19744614 [T/C] NM_016573 GMIP EXON Missense_E824K exm1448091 19 19744692 [A/G] NM_016573 GMIP EXON Missense_P798S exm1448108 19 19744988 [T/C] NM_016573 GMIP EXON Missense_R699Q exm1448115 19 19745476 [A/C] NM_016573 GMIP EXON Missense_A642S exm1448117 19 19745479 [T/C] NM_016573 GMIP EXON Missense_D641N exm1448121 19 19745633 [T/C] NM_016573 GMIP EXON Missense_V619I exm1448126 19 19745901 [A/G] NM_016573 GMIP EXON Missense_P561L exm1448147 19 19746457 [T/G] NM_016573 GMIP EXON Missense_D467E exm1448149 19 19746462 [A/G] NM_016573 GMIP EXON Nonsense_R466X exm1448152 19 19746521 [A/G] NM_016573 GMIP EXON Missense_T446M exm1448155 19 19747546 [A/G] NM_016573 GMIP EXON Missense_R433W exm1448160 19 19747587 [A/G] NM_016573 GMIP EXON Missense_P419L exm1448185 19 19749111 [T/C] NM_016573 GMIP EXON Missense_A216T exm1448192 19 19751305 [A/C] NM_016573 GMIP EXON Missense_S105I exm1448195 19 19751344 [T/C] NM_016573 GMIP EXON Missense_G92E exm1448196 19 19751362 [T/C] NM_016573 GMIP EXON Missense_R86Q exm1448199 19 19752652 [T/C] NM_016573 GMIP EXON Missense_G69S exm1448202 19 19752789 [A/G] NM_016573 GMIP EXON Missense_T59I exm1448207 19 19753346 [T/G] NM_016573 GMIP EXON Missense_N34K exm1448210 19 19753400 [A/C] NM_016573 GMIP EXON Missense_K16N exm1448215 19 19756268 [T/A] NM_020410 ATP13A1 EXON Missense_F1193Y exm1448233 19 19756787 [C/G] NM_020410 ATP13A1 EXON Missense_Q1086E exm1448237 19 19757073 [A/C] NM_020410 ATP13A1 EXON Missense_F1063L exm1448238 19 19757099 [T/C] NM_020410 ATP13A1 EXON Missense_I1055V exm1448239 19 19757137 [T/C] NM_020410 ATP13A1 EXON Missense_R1042Q exm1448256 19 19758463 [A/G] NM_020410 ATP13A1 EXON Missense_T913I exm1448295 19 19764664 [T/C] NM_020410 ATP13A1 EXON Missense_E677K exm2228696 19 19764782 [A/G] NM_020410 ATP13A1 EXON Missense_S662F exm1448304 19 19765421 [T/C] NM_020410 ATP13A1 EXON Missense_D582N exm1448307 19 19765499 [T/C] NM_020410 ATP13A1 EXON Missense_E556K exm1928973 19 19767657 [A/G] NM_020410 ATP13A1 EXON Synonymous_I325I exm1448351 19 19767852 [T/C] NM_020410 ATP13A1 EXON Missense_R286Q exm1448356 19 19768186 [T/G] NM_020410 ATP13A1 EXON Missense_L237I exm1928983 19 19770415 [C/G] NM_020410 ATP13A1 EXON Missense_S224R exm1448361 19 19770435 [T/C] NM_020410 ATP13A1 EXON Missense_A218T exm1448364 19 19770513 [T/C] NM_020410 ATP13A1 EXON Missense_V192M exm1448368 19 19770591 [T/C] NM_020410 ATP13A1 EXON Missense_G166R exm1448376 19 19770777 [A/G] NM_020410 ATP13A1 EXON Missense_A139V exm1448377 19 19770790 [T/C] NM_020410 ATP13A1 EXON Missense_D135N exm-rs2304130 19 19789528 [A/G] NM_033204 ZNF101 Silent exm1448412 19 19789579 [A/C] NM_033204 ZNF101 EXON Missense_L59M exm1448419 19 19790114 [A/G] NM_033204 ZNF101 EXON Missense_V106M exm1448421 19 19790136 [A/G] NM_033204 ZNF101 EXON Missense_R113H exm1448422 19 19790145 [T/C] NM_033204 ZNF101 EXON Missense_F116S exm1448424 19 19790159 [A/C] NM_033204 ZNF101 EXON Missense_M121L exm1448429 19 19790235 [A/G] NM_033204 ZNF101 EXON Missense_H146R exm1448430 19 19790255 [T/C] NM_033204 ZNF101 EXON Missense_P153S exm1448439 19 19790421 [T/C] NM_033204 ZNF101 EXON Missense_V208A exm1448441 19 19790469 [A/G] NM_033204 ZNF101 EXON Missense_R224H exm1448445 19 19790528 [A/G] NM_033204 ZNF101 EXON Missense_V244I exm1448450 19 19790690 [T/C] NM_033204 ZNF101 EXON Missense_H298Y exm1448456 19 19791014 [T/C] NM_033204 ZNF101 EXON Missense_S406P exm1448478 19 19822451 [A/G] NM_021030 ZNF14 EXON Nonsense_R547X exm1448483 19 19822535 [A/G] NM_021030 ZNF14 EXON Nonsense_R519X exm1448500 19 19822871 [A/G] NM_021030 ZNF14 EXON Nonsense_R407X exm1448502 19 19822954 [T/C] NM_021030 ZNF14 EXON Missense_R379Q exm1448503 19 19822991 [A/G] NM_021030 ZNF14 EXON Nonsense_R367X exm1448507 19 19823122 [T/C] NM_021030 ZNF14 EXON Missense_R323Q exm1448514 19 19823270 [T/A] NM_021030 ZNF14 EXON Missense_T274S exm1448518 19 19823366 [T/G] NM_021030 ZNF14 EXON Missense_K242Q exm1448523 19 19823446 [T/C] NM_021030 ZNF14 EXON Missense_H215R exm1448526 19 19823482 [C/G] NM_021030 ZNF14 EXON Missense_G203A exm1448528 19 19823557 [A/C] NM_021030 ZNF14 EXON Missense_F178C exm1448529 19 19823567 [T/C] NM_021030 ZNF14 EXON Missense_G175R exm1929074 19 19823593 [A/C] NM_021030 ZNF14 EXON Missense_V166G exm1448539 19 19823734 [T/C] NM_021030 ZNF14 EXON Missense_N119S exm1448561 19 19905376 [T/G] NM_001145404,NM_001099269 ZNF506,ZNF506 EXON Missense_L408F,Missense_L440F exm1448592 19 19906131 [T/G] NM_001145404,NM_001099269 ZNF506,ZNF506 EXON Missense_T157P,Missense_T189P exm1448595 19 19906147 [G/C] NM_001145404,NM_001099269 ZNF506,ZNF506 EXON Missense_N151K,Missense_N183K exm1448620 19 19990898 [T/G] NM_021047 ZNF253 EXON Nonsense_E57X exm1448625 19 20002358 [G/C] NM_021047 ZNF253 EXON Missense_R101T exm1448631 19 20002426 [A/G] NM_021047 ZNF253 EXON Missense_V124M exm1448632 19 20002439 [T/G] NM_021047 ZNF253 EXON Missense_G128V exm1448637 19 20002567 [A/C] NM_021047 ZNF253 EXON Missense_L171I exm1448638 19 20002573 [A/G] NM_021047 ZNF253 EXON Missense_K173E exm1448639 19 20002584 [A/G] NM_021047 ZNF253 EXON Missense_I176M exm1448664 19 20003341 [T/C] NM_021047 ZNF253 EXON Missense_C429R exm1448670 19 20003485 [T/C] NM_021047 ZNF253 EXON Nonsense_R477X exm1448671 19 20003486 [A/G] NM_021047 ZNF253 EXON Missense_R477Q exm-rs10411195 19 20036176 [T/C] NM_031218 ZNF93 Silent exm1448701 19 20044186 [A/G] NM_031218 ZNF93 EXON Missense_Q141R exm1448702 19 20044194 [A/G] NM_031218 ZNF93 EXON Missense_V144I exm1448728 19 20044810 [T/C] NM_031218 ZNF93 EXON Missense_A349V exm1448736 19 20044928 [C/G] NM_031218 ZNF93 EXON Missense_K388N exm1448737 19 20044932 [A/G] NM_031218 ZNF93 EXON Missense_V390I exm1929213 19 20045097 [T/A] NM_031218 ZNF93 EXON Missense_I445F exm2268219 19 20054823 [A/G] exm1448769 19 20116906 [T/C] NM_001077349,NM_033196 ZNF682,ZNF682 EXON Missense_N437D,Missense_N469D exm1448782 19 20117147 [G/C] NM_001077349,NM_033196 ZNF682,ZNF682 EXON Missense_K356N,Missense_K388N exm1448809 19 20117685 [A/G] NM_001077349,NM_033196 ZNF682,ZNF682 EXON Missense_T177I,Missense_T209I exm1448816 19 20117937 [T/C] NM_001077349,NM_033196 ZNF682,ZNF682 EXON Missense_D93G,Missense_D125G exm1448818 19 20117970 [T/C] NM_001077349,NM_033196 ZNF682,ZNF682 EXON Missense_R82K,Missense_R114K exm1448821 19 20118012 [A/G] NM_001077349,NM_033196 ZNF682,ZNF682 EXON Missense_L68P,Missense_L100P exm1448825 19 20118066 [G/C] NM_001077349,NM_033196 ZNF682,ZNF682 EXON Missense_T50S,Missense_T82S exm1448828 19 20133846 [T/C] NM_001077349,NM_033196 ZNF682,ZNF682 EXON Missense_V33M,Missense_V65M exm1448829 19 20133876 [A/G] NM_001077349,NM_033196 ZNF682,ZNF682 EXON Missense_R23C,Missense_R55C exm1448846 19 20228737 [T/G] NM_007138 ZNF90 EXON Missense_V125G exm1448860 19 20229486 [A/G] NM_007138 ZNF90 EXON Missense_G375S exm2228724 19 20229864 [A/G] NM_007138 ZNF90 EXON Missense_I501V exm1448896 19 20307938 [A/G] NM_052852 ZNF486 EXON Missense_N140S exm2268184 19 20488845 [A/G] exm1448972 19 20727516 [G/C] NM_001159293 ZNF737 EXON Missense_R498T exm1449008 19 20728636 [A/C] NM_001159293 ZNF737 EXON Missense_V125L exm1449013 19 20728777 [A/C] NM_001159293 ZNF737 EXON Missense_C78G exm1449105 19 20808384 [A/G] NM_001076675 ZNF626 EXON Missense_L100P exm1449153 19 21117803 [A/C] NM_003429,NM_001256171,NM_001256173,NR_045830,NM_001256172 ZNF85,ZNF85,ZNF85,ZNF85,ZNF85 EXON Missense_K60T,Missense_K60T,Silent,Silent,Missense_K60T exm1449170 19 21131664 [T/G] NM_003429,NM_001256171,NM_001256173 ZNF85,ZNF85,ZNF85 EXON Missense_R115I,Missense_R145I,Missense_R51I exm1449181 19 21131850 [G/C] NM_003429,NM_001256171,NM_001256173 ZNF85,ZNF85,ZNF85 EXON Missense_T177R,Missense_T207R,Missense_T113R exm1449184 19 21131873 [A/G] NM_003429,NM_001256171,NM_001256173 ZNF85,ZNF85,ZNF85 EXON Missense_M185V,Missense_M215V,Missense_M121V exm1449187 19 21131930 [T/C] NM_003429,NM_001256171,NM_001256173 ZNF85,ZNF85,ZNF85 EXON Missense_C204R,Missense_C234R,Missense_C140R exm1449202 19 21132198 [A/G] NM_003429,NM_001256171,NM_001256173 ZNF85,ZNF85,ZNF85 EXON Missense_K293R,Missense_K323R,Missense_K229R exm1929455 19 21132414 [T/C] NM_003429,NM_001256171,NM_001256173 ZNF85,ZNF85,ZNF85 EXON Missense_T365I,Missense_T395I,Missense_T301I exm1449254 19 21133078 [A/G] NM_003429,NM_001256171,NM_001256173 ZNF85,ZNF85,ZNF85 EXON Missense_I586M,Missense_I616M,Missense_I522M exm2228747 19 21133086 [A/C] NM_003429,NM_001256171,NM_001256173 ZNF85,ZNF85,ZNF85 EXON Missense_T589N,Missense_T619N,Missense_T525N exm2264678 19 21168754 [A/C] exm1449267 19 21205646 [A/G] NM_001172671,NM_025189 ZNF430,ZNF430 EXON Missense_G19R,Missense_G19R exm1929518 19 21216979 [A/G] NM_001172671,NM_025189 ZNF430,ZNF430 EXON Missense_D103G,Missense_D104G exm1449284 19 21239478 [C/G] NM_001172671,NM_025189 ZNF430,ZNF430 EXON Missense_G121R,Missense_G122R exm1449290 19 21239568 [A/G] NM_001172671,NM_025189 ZNF430,ZNF430 EXON Missense_V151M,Missense_V152M exm1449291 19 21239582 [A/T] NM_001172671,NM_025189 ZNF430,ZNF430 EXON Missense_N155K,Missense_N156K exm1449335 19 21240683 [A/C] NM_001172671,NM_025189 ZNF430,ZNF430 EXON Missense_S522R,Missense_S523R exm1449337 19 21240706 [A/G] NM_001172671,NM_025189 ZNF430,ZNF430 EXON Missense_H530R,Missense_H531R exm1449363 19 21300054 [T/C] NM_182515 ZNF714 EXON Missense_T195I exm1449375 19 21300462 [A/G] NM_182515 ZNF714 EXON Missense_K331R exm1449397 19 21300992 [T/C] NM_182515 ZNF714 EXON Missense_H508Y exm1449411 19 21326358 [A/G] NM_133473 ZNF431 EXON Missense_D3G exm2228758 19 21365540 [T/G] NM_133473 ZNF431 EXON Missense_R145I exm2228759 19 21365545 [T/G] NM_133473 ZNF431 EXON Missense_G147C exm1449429 19 21365546 [T/G] NM_133473 ZNF431 EXON Missense_G147V exm1449430 19 21365551 [A/G] NM_133473 ZNF431 EXON Missense_A149T exm1449433 19 21365575 [T/C] NM_133473 ZNF431 EXON Missense_H157Y exm1449434 19 21365581 [A/G] NM_133473 ZNF431 EXON Missense_E159K exm1449483 19 21366821 [T/G] NM_133473 ZNF431 EXON Missense_M572R exm2272771 19 21384253 [T/C] exm1449545 19 21477325 [A/T] NM_021269 ZNF708 EXON Missense_V148D exm1449549 19 21477379 [T/C] NM_021269 ZNF708 EXON Missense_R130Q exm1449550 19 21477380 [A/G] NM_021269 ZNF708 EXON Missense_R130W exm1449551 19 21477403 [T/G] NM_021269 ZNF708 EXON Missense_K122T exm1449552 19 21477417 [A/C] NM_021269 ZNF708 EXON Missense_E117D exm1449553 19 21477431 [T/C] NM_021269 ZNF708 EXON Missense_K113E exm1449558 19 21477527 [A/G] NM_021269 ZNF708 EXON Missense_F81L exm1449599 19 21588604 [T/C] NM_001076678,NM_175910,NM_145326 ZNF493,ZNF493,ZNF493 EXON Nonsense_Q67X,Silent,Nonsense_Q68X exm1449602 19 21588658 [A/G] NM_001076678,NM_175910,NM_145326 ZNF493,ZNF493,ZNF493 EXON Missense_V85I,Silent,Missense_V86I exm1449626 19 21606174 [A/G] NM_001076678,NM_175910 ZNF493,ZNF493 EXON Missense_Y238C,Missense_Y110C exm1449633 19 21606230 [A/G] NM_001076678,NM_175910 ZNF493,ZNF493 EXON Missense_R257G,Missense_R129G exm1449694 19 21607043 [T/C] NM_001076678,NM_175910 ZNF493,ZNF493 EXON Nonsense_R528X,Nonsense_R400X exm1449738 19 21607695 [A/C] NM_001076678,NM_175910 ZNF493,ZNF493 EXON Missense_A745E,Missense_A617E exm-rs2562456 19 21666210 [T/C] exm1449760 19 21713459 [T/C] NM_001001415 ZNF429 EXON Nonsense_R67X exm1449770 19 21719182 [T/G] NM_001001415 ZNF429 EXON Missense_E109D exm1449771 19 21719213 [A/G] NM_001001415 ZNF429 EXON Missense_V120I exm1449772 19 21719235 [A/G] NM_001001415 ZNF429 EXON Missense_K127R exm1929705 19 21719244 [A/G] NM_001001415 ZNF429 EXON Missense_Y130C exm1449774 19 21719262 [A/G] NM_001001415 ZNF429 EXON Missense_C136Y exm1449775 19 21719274 [A/C] NM_001001415 ZNF429 EXON Missense_T140N exm1449784 19 21719440 [T/A] NM_001001415 ZNF429 EXON Missense_H195Q exm1449790 19 21719685 [T/G] NM_001001415 ZNF429 EXON Missense_R277I exm1449804 19 21720098 [A/G] NM_001001415 ZNF429 EXON Missense_D415N exm1449810 19 21720189 [G/C] NM_001001415 ZNF429 EXON Missense_R445T exm1449842 19 21720803 [T/C] NM_001001415 ZNF429 EXON Missense_H650Y exm2272826 19 21837430 [T/C] exm1449853 19 21909496 [C/G] NM_173531 ZNF100 EXON Missense_L540V exm2268185 19 21912755 [A/G] NM_173531 ZNF100 Silent exm1449949 19 21927839 [A/C] NM_173531 ZNF100 EXON Nonsense_E43X exm1449954 19 21948524 [T/C] NM_173531 ZNF100 EXON Missense_S23N exm1449955 19 21948526 [C/G] NM_173531 ZNF100 EXON Missense_R22S exm1449957 19 21948570 [T/C] NM_173531 ZNF100 EXON Missense_M8V exm1449969 19 21990464 [T/G] NM_001256653,NM_001256654,NM_001256648,NM_003423,NM_001256651,NM_001256649,NM_001256650 ZNF43,ZNF43,ZNF43,ZNF43,ZNF43,ZNF43,ZNF43 EXON Missense_P801H,Missense_P727H,Missense_P786H,Missense_P792H,Missense_P727H,Missense_P786H,Missense_P786H exm1449970 19 21990474 [G/C] NM_001256653,NM_001256654,NM_001256648,NM_003423,NM_001256651,NM_001256649,NM_001256650 ZNF43,ZNF43,ZNF43,ZNF43,ZNF43,ZNF43,ZNF43 EXON Missense_L798V,Missense_L724V,Missense_L783V,Missense_L789V,Missense_L724V,Missense_L783V,Missense_L783V exm1450035 19 21991698 [A/G] NM_001256653,NM_001256654,NM_001256648,NM_003423,NM_001256651,NM_001256649,NM_001256650 ZNF43,ZNF43,ZNF43,ZNF43,ZNF43,ZNF43,ZNF43 EXON Missense_R390W,Missense_R316W,Missense_R375W,Missense_R381W,Missense_R316W,Missense_R375W,Missense_R375W exm1450062 19 21992084 [T/C] NM_001256653,NM_001256654,NM_001256648,NM_003423,NM_001256651,NM_001256649,NM_001256650 ZNF43,ZNF43,ZNF43,ZNF43,ZNF43,ZNF43,ZNF43 EXON Missense_Y261C,Missense_Y187C,Missense_Y246C,Missense_Y252C,Missense_Y187C,Missense_Y246C,Missense_Y246C exm1450065 19 21992108 [T/C] NM_001256653,NM_001256654,NM_001256648,NM_003423,NM_001256651,NM_001256649,NM_001256650 ZNF43,ZNF43,ZNF43,ZNF43,ZNF43,ZNF43,ZNF43 EXON Missense_R253H,Missense_R179H,Missense_R238H,Missense_R244H,Missense_R179H,Missense_R238H,Missense_R238H exm1450066 19 21992109 [A/G] NM_001256653,NM_001256654,NM_001256648,NM_003423,NM_001256651,NM_001256649,NM_001256650 ZNF43,ZNF43,ZNF43,ZNF43,ZNF43,ZNF43,ZNF43 EXON Missense_R253C,Missense_R179C,Missense_R238C,Missense_R244C,Missense_R179C,Missense_R238C,Missense_R238C exm1929863 19 21992227 [A/C] NM_001256653,NM_001256654,NM_001256648,NM_003423,NM_001256651,NM_001256649,NM_001256650 ZNF43,ZNF43,ZNF43,ZNF43,ZNF43,ZNF43,ZNF43 EXON Missense_C213W,Missense_C139W,Missense_C198W,Missense_C204W,Missense_C139W,Missense_C198W,Missense_C198W exm1450079 19 21992426 [A/G] NM_001256653,NM_001256654,NM_001256648,NM_003423,NM_001256651,NM_001256649,NM_001256650 ZNF43,ZNF43,ZNF43,ZNF43,ZNF43,ZNF43,ZNF43 EXON Missense_L147S,Missense_L73S,Missense_L132S,Missense_L138S,Missense_L73S,Missense_L132S,Missense_L132S exm1929865 19 21992543 [A/G] NM_001256653,NM_001256654,NM_001256648,NM_003423,NM_001256651,NM_001256649,NM_001256650 ZNF43,ZNF43,ZNF43,ZNF43,ZNF43,ZNF43,ZNF43 EXON Missense_A108V,Missense_A34V,Missense_A93V,Missense_A99V,Missense_A34V,Missense_A93V,Missense_A93V exm1450087 19 21992578 [G/C] NM_001256653,NM_001256654,NM_001256648,NM_003423,NM_001256651,NM_001256649,NM_001256650 ZNF43,ZNF43,ZNF43,ZNF43,ZNF43,ZNF43,ZNF43 EXON Missense_W96C,Missense_W22C,Missense_W81C,Missense_W87C,Missense_W22C,Missense_W81C,Missense_W81C exm1450295 19 22157396 [T/C] NM_007153 ZNF208 EXON Missense_R147H exm1450327 19 22256358 [A/G] NM_033468 ZNF257 EXON Missense_K73R exm2228798 19 22271225 [A/G] NM_033468 ZNF257 EXON Missense_G225R exm1450388 19 22272101 [T/C] NM_033468 ZNF257 EXON Missense_C517R exm1450395 19 22362861 [A/C] NM_001001411 ZNF676 EXON Missense_R553I exm1450443 19 22363693 [T/C] NM_001001411 ZNF676 EXON Missense_A276T exm1450444 19 22363701 [A/G] NM_001001411 ZNF676 EXON Missense_A273V exm1450504 19 22364242 [T/C] NM_001001411 ZNF676 EXON Missense_V93M exm1450507 19 22364322 [A/G] NM_001001411 ZNF676 EXON Missense_M66T exm1450508 19 22364347 [T/C] NM_001001411 ZNF676 EXON Missense_G58S exm1450509 19 22364355 [A/G] NM_001001411 ZNF676 EXON Missense_P55L exm1450513 19 22364389 [T/C] NM_001001411 ZNF676 Silent exm-rs1975174 19 22515251 [T/G] exm2260841 19 22522950 [A/G] exm2275310 19 22817127 [T/G] NM_020855 ZNF492 EXON Silent exm1450857 19 22942267 [A/G] NM_001080409 ZNF99 EXON Synonymous_N148N exm1450861 19 22942335 [A/G] NM_001080409 ZNF99 EXON Missense_H126Y exm1450873 19 22952081 [T/C] NM_001080409 ZNF99 EXON Missense_E17K exm1450874 19 22952084 [T/C] NM_001080409 ZNF99 EXON Missense_E16K exm2272827 19 23349969 [T/C] exm2272774 19 23415601 [T/C] NR_045525 ZNF724P Silent exm1450944 19 23543107 [T/A] NM_003430 ZNF91 EXON Missense_I892F exm1450947 19 23543139 [A/G] NM_003430 ZNF91 EXON Missense_P881L exm1451048 19 23545237 [A/G] NM_003430 ZNF91 EXON Missense_F182L exm1451062 19 23545525 [T/C] NM_003430 ZNF91 EXON Missense_I86V exm1451063 19 23556550 [A/G] NM_003430 ZNF91 EXON Missense_P83S exm1451151 19 23837365 [A/C] NM_138330 ZNF675 EXON Missense_L124V exm1451153 19 23837406 [T/C] NM_138330 ZNF675 EXON Missense_N110S exm1451242 19 23927522 [A/G] NM_138286 ZNF681 EXON Missense_T277I exm-IND19-23719581 19 23927742 [I/D] NM_138286 ZNF681 EXON exm1451258 19 23927795 [A/G] NM_138286 ZNF681 EXON Missense_T186I exm1451260 19 23927839 [T/G] NM_138286 ZNF681 EXON Missense_K171N exm1451273 19 23937693 [A/G] NM_138286 ZNF681 EXON Missense_I53T exm2253739 19 23973505 [T/C] NR_003662 RPSAP58 Silent exm2268186 19 24058196 [A/G] exm1451296 19 24270119 [T/C] NM_203282 ZNF254 EXON Missense_P4S exm1451306 19 24309080 [A/G] NM_203282 ZNF254 EXON Missense_D93G exm1451323 19 24309397 [G/C] NM_203282 ZNF254 EXON Missense_Q199E exm1451361 19 24310032 [A/T] NM_203282 ZNF254 EXON Missense_E410D exm1451418 19 24310697 [C/G] NM_203282 ZNF254 EXON Missense_W632S exm1451420 19 24310717 [T/C] NM_203282 ZNF254 EXON Missense_F639L exm1451422 19 24310724 [A/G] NM_203282 ZNF254 EXON Missense_R641Q exm2260847 19 27732159 [T/G] exm2272777 19 28258027 [T/G] exm2253748 19 28773902 [T/C] exm2264679 19 28815018 [A/C] exm2272779 19 29396344 [T/C] exm2260849 19 29534082 [A/G] exm2272780 19 29586121 [T/C] exm1451454 19 29704010 [A/C] NM_006003 UQCRFS1 EXON Missense_S6A exm-rs4517902 19 29851078 [A/C] NR_040029 LOC284395 Silent exm-rs10403021 19 30079604 [T/C] exm1451483 19 30097231 [A/G] NM_006627,NR_027368 POP4,POP4 EXON Synonymous_K2K,Silent exm1451492 19 30099597 [T/C] NM_006627,NR_027368 POP4,POP4 EXON Missense_A14V,Silent exm1451505 19 30101494 [A/C] NM_006627,NR_027368 POP4,POP4 EXON Missense_Q80P,Silent exm1451524 19 30104871 [T/G] NM_006627,NR_027368 POP4,POP4 EXON Missense_R173L,Silent exm1451529 19 30106189 [A/G] NM_006627,NR_027368 POP4,POP4 EXON Missense_D189N,Silent exm1451531 19 30106250 [T/C] NM_006627,NR_027368 POP4,POP4 EXON Missense_A209V,Silent exm1451536 19 30106280 [A/G] NM_006627,NR_027368 POP4,POP4 EXON Missense_D219G,Silent exm1451543 19 30164754 [A/G] NM_024310 PLEKHF1 EXON Missense_D3G exm1451549 19 30164820 [T/C] NM_024310 PLEKHF1 EXON Missense_S25L exm1451552 19 30164938 [T/G] NM_024310 PLEKHF1 EXON Nonsense_Y64X exm1451560 19 30165063 [A/G] NM_024310 PLEKHF1 EXON Missense_K106R exm1451565 19 30165134 [T/G] NM_024310 PLEKHF1 EXON Missense_V130L exm1451568 19 30165182 [A/G] NM_024310 PLEKHF1 EXON Missense_A146T exm1451574 19 30165314 [T/C] NM_024310 PLEKHF1 EXON Missense_R190C exm1451589 19 30193632 [T/C] NM_001256046,NM_031448,NM_001031726,NR_045690,NM_001256047,NR_045692,NR_045691 C19orf12,C19orf12,C19orf12,C19orf12,C19orf12,C19orf12,C19orf12 EXON Silent,Missense_Q138R,Missense_Q149R,Silent,Missense_Q138R,Silent,Silent exm1451593 19 30193654 [T/C] NM_001256046,NM_031448,NM_001031726,NR_045690,NM_001256047,NR_045692,NR_045691 C19orf12,C19orf12,C19orf12,C19orf12,C19orf12,C19orf12,C19orf12 EXON Silent,Missense_K131E,Missense_K142E,Silent,Missense_K131E,Silent,Silent exm1451597 19 30193702 [T/C] NM_001256046,NM_031448,NM_001031726,NR_045690,NM_001256047,NR_045692,NR_045691 C19orf12,C19orf12,C19orf12,C19orf12,C19orf12,C19orf12,C19orf12 EXON Silent,Missense_E115K,Missense_E126K,Silent,Missense_E115K,Silent,Silent exm1451599 19 30193732 [T/C] NM_001256046,NM_031448,NM_001031726,NR_045690,NM_001256047,NR_045692,NR_045691 C19orf12,C19orf12,C19orf12,C19orf12,C19orf12,C19orf12,C19orf12 EXON Silent,Missense_V105M,Missense_V116M,Silent,Missense_V105M,Silent,Silent exm1451610 19 30199200 [T/C] NM_001256046,NM_031448,NM_001031726,NR_045690,NM_001256047,NR_045692,NR_045691 C19orf12,C19orf12,C19orf12,C19orf12,C19orf12,C19orf12,C19orf12 EXON Missense_V41I,Missense_V41I,Missense_V52I,Silent,Missense_V41I,Silent,Silent exm2264674 19 30215811 [A/C] exm-rs8102137 19 30296853 [T/C] exm1451632 19 30303889 [A/C] NM_001238 CCNE1 EXON Missense_P42Q exm1451635 19 30308053 [A/G] NM_001238 CCNE1 EXON Missense_N64D exm1451636 19 30308057 [A/G] NM_001238 CCNE1 EXON Missense_N65S exm1451638 19 30308110 [C/G] NM_001238 CCNE1 EXON Missense_D83H exm1451644 19 30308375 [A/C] NM_001238 CCNE1 EXON Missense_D130A exm2253755 19 30308385 [T/C] NM_001238 CCNE1 EXON Synonymous_F133F exm1451646 19 30308425 [A/G] NM_001238 CCNE1 EXON Missense_I147V exm1451654 19 30312636 [A/G] NM_001238 CCNE1 EXON Missense_Y206C exm1451655 19 30312660 [T/C] NM_001238 CCNE1 EXON Missense_A214V exm1451658 19 30312916 [A/G] NM_001238 CCNE1 EXON Missense_R240H exm1451660 19 30312976 [A/T] NM_001238 CCNE1 EXON Missense_N260I exm1451663 19 30313189 [T/C] NM_001238 CCNE1 EXON Missense_P295S exm1451699 19 30496559 [T/C] NM_001252641,NM_003796,NR_045557 URI1,URI1,URI1 EXON Missense_A136V,Missense_A154V,Silent exm1451700 19 30496597 [T/C] NM_001252641,NM_003796,NR_045557 URI1,URI1,URI1 EXON Missense_C149R,Missense_C167R,Silent exm1451709 19 30498452 [A/G] NM_001252641,NM_003796,NR_045557 URI1,URI1,URI1 EXON Missense_D180G,Missense_D198G,Silent exm1451715 19 30499988 [A/G] NM_001252641,NM_003796,NR_045557 URI1,URI1,URI1 EXON Missense_V237M,Missense_V255M,Silent exm1451728 19 30500195 [G/C] NM_001252641,NM_003796,NR_045557 URI1,URI1,URI1 EXON Missense_A306P,Missense_A324P,Silent exm1451733 19 30502109 [G/C] NM_001252641,NM_003796,NR_045557 URI1,URI1,URI1 EXON Missense_L364V,Missense_L382V,Silent exm1451747 19 30505869 [A/G] NM_001252641,NM_003796,NR_045557 URI1,URI1,URI1 EXON Silent,Missense_A501T,Silent exm2268187 19 30568421 [A/G] exm2260850 19 30641424 [A/G] exm-rs8103847 19 30909447 [A/C] NM_014717 ZNF536 Silent exm1451789 19 30935506 [A/G] NM_014717 ZNF536 EXON Missense_R346H exm1451796 19 30935802 [A/G] NM_014717 ZNF536 EXON Missense_G445S exm1451799 19 30935859 [A/G] NM_014717 ZNF536 EXON Missense_E464K exm1451800 19 30935863 [A/C] NM_014717 ZNF536 EXON Missense_A465E exm1451804 19 30935927 [C/G] NM_014717 ZNF536 EXON Missense_H486Q exm1931330 19 30936326 [A/C] NM_014717 ZNF536 EXON Missense_N619K exm1451824 19 30936511 [A/C] NM_014717 ZNF536 EXON Missense_Q681P exm2253762 19 30936521 [T/C] NM_014717 ZNF536 EXON Synonymous_S684S exm2268225 19 30943455 [A/G] NM_014717 ZNF536 Silent exm1451839 19 31025808 [A/G] NM_014717 ZNF536 EXON Missense_R742H exm1451841 19 31038933 [T/C] NM_014717 ZNF536 EXON Missense_R803W exm1451852 19 31039146 [A/G] NM_014717 ZNF536 EXON Missense_T874A exm1451858 19 31039257 [A/G] NM_014717 ZNF536 EXON Missense_G911S exm1451861 19 31039357 [A/C] NM_014717 ZNF536 EXON Missense_P944H exm1451880 19 31039669 [T/C] NM_014717 ZNF536 EXON Missense_A1048V exm1451890 19 31039813 [C/G] NM_014717 ZNF536 EXON Missense_W1096S exm1451904 19 31040142 [A/G] NM_014717 ZNF536 EXON Missense_G1206R exm1451909 19 31040178 [A/G] NM_014717 ZNF536 EXON Missense_V1218I exm1451910 19 31040194 [T/C] NM_014717 ZNF536 EXON Missense_S1223L exm1451911 19 31040226 [G/C] NM_014717 ZNF536 EXON Missense_H1234D exm1451913 19 31040263 [T/C] NM_014717 ZNF536 EXON Missense_A1246V exm1451923 19 31040385 [A/G] NM_014717 ZNF536 EXON Missense_A1287T exm2253763 19 31125691 [A/G] exm1451931 19 31767465 [T/A] NM_020856 TSHZ3 EXON Missense_L1078F exm1931440 19 31767574 [T/C] NM_020856 TSHZ3 EXON Missense_Q1042R exm1451962 19 31768178 [T/C] NM_020856 TSHZ3 EXON Missense_E841K exm1451969 19 31768243 [A/G] NM_020856 TSHZ3 EXON Missense_S819L exm1451991 19 31768639 [A/G] NM_020856 TSHZ3 EXON Missense_P687L exm1451994 19 31768676 [A/G] NM_020856 TSHZ3 EXON Missense_R675W exm1452006 19 31768780 [T/C] NM_020856 TSHZ3 EXON Missense_R640Q exm1452014 19 31768942 [A/G] NM_020856 TSHZ3 EXON Missense_T586M exm1452015 19 31768945 [A/G] NM_020856 TSHZ3 EXON Missense_P585L exm1452016 19 31768952 [T/C] NM_020856 TSHZ3 EXON Missense_V583I exm1452031 19 31769222 [T/C] NM_020856 TSHZ3 EXON Missense_E493K exm1452033 19 31769293 [T/C] NM_020856 TSHZ3 EXON Missense_E469G exm1452039 19 31769366 [T/C] NM_020856 TSHZ3 EXON Missense_V445M exm1452060 19 31769749 [A/G] NM_020856 TSHZ3 EXON Missense_I317T exm1452093 19 31770506 [T/C] NM_020856 TSHZ3 EXON Missense_A65T exm1452095 19 31770527 [T/C] NM_020856 TSHZ3 EXON Missense_S58G exm1452097 19 31770556 [A/G] NM_020856 TSHZ3 EXON Missense_P48L exm1452101 19 31770605 [A/G] NM_020856 TSHZ3 EXON Missense_P32S exm-rs1078373 19 31801130 [A/G] NM_020856 TSHZ3 Silent exm2268189 19 31863085 [A/G] exm2272829 19 31906847 [T/G] exm2272781 19 32677182 [T/C] exm1452122 19 32844034 [A/G] NM_001136156,NM_014910 ZNF507,ZNF507 EXON Missense_T100A,Missense_T100A exm1452124 19 32844053 [T/C] NM_001136156,NM_014910 ZNF507,ZNF507 EXON Missense_S106L,Missense_S106L exm1452135 19 32844376 [A/T] NM_001136156,NM_014910 ZNF507,ZNF507 EXON Missense_I214F,Missense_I214F exm1931618 19 32844806 [A/G] NM_001136156,NM_014910 ZNF507,ZNF507 EXON Missense_N357S,Missense_N357S exm1452159 19 32844890 [T/G] NM_001136156,NM_014910 ZNF507,ZNF507 EXON Missense_I385S,Missense_I385S exm1452167 19 32844995 [T/C] NM_001136156,NM_014910 ZNF507,ZNF507 EXON Missense_M420T,Missense_M420T exm1931621 19 32845370 [T/C] NM_001136156,NM_014910 ZNF507,ZNF507 EXON Missense_S545L,Missense_S545L exm1452189 19 32845598 [A/G] NM_001136156,NM_014910 ZNF507,ZNF507 EXON Missense_S621N,Missense_S621N exm1452190 19 32845600 [A/G] NM_001136156,NM_014910 ZNF507,ZNF507 EXON Missense_D622N,Missense_D622N exm1452211 19 32845859 [A/G] NM_001136156,NM_014910 ZNF507,ZNF507 EXON Missense_Y708C,Missense_Y708C exm1452213 19 32847556 [A/G] NM_001136156,NM_014910 ZNF507,ZNF507 EXON Missense_S721N,Missense_S721N exm1452233 19 32873658 [A/G] NM_001136156,NM_014910 ZNF507,ZNF507 EXON Missense_K844R,Missense_K844R exm1452234 19 32873684 [A/G] NM_001136156,NM_014910 ZNF507,ZNF507 EXON Missense_V853I,Missense_V853I exm1452246 19 32873975 [G/C] NM_001136156,NM_014910 ZNF507,ZNF507 EXON Missense_L950V,Missense_L950V exm2275063 19 32902198 [A/G] NM_001172774,NM_207325 DPY19L3,DPY19L3 EXON Missense_I53V,Missense_I53V exm1452257 19 32902201 [T/G] NM_001172774,NM_207325 DPY19L3,DPY19L3 EXON Missense_A54S,Missense_A54S exm-rs2111504 19 32917455 [A/T] NM_001172774,NM_207325 DPY19L3,DPY19L3 Silent,Silent exm1452263 19 32923706 [A/G] NM_001172774,NM_207325 DPY19L3,DPY19L3 EXON Missense_V108M,Missense_V108M exm1452275 19 32930131 [T/C] NM_001172774,NM_207325 DPY19L3,DPY19L3 EXON Missense_P237L,Missense_P237L exm1452280 19 32930801 [A/G] NM_001172774,NM_207325 DPY19L3,DPY19L3 EXON Missense_M280I,Missense_M280I exm1452282 19 32930808 [A/G] NM_001172774,NM_207325 DPY19L3,DPY19L3 EXON Missense_A283T,Missense_A283T exm1452283 19 32944052 [T/C] NM_001172774,NM_207325 DPY19L3,DPY19L3 EXON Missense_A286V,Missense_A286V exm1452286 19 32945905 [A/G] NM_001172774,NM_207325 DPY19L3,DPY19L3 EXON Missense_M350V,Missense_M350V exm1452300 19 32954294 [A/G] NM_001172774,NM_207325 DPY19L3,DPY19L3 EXON Missense_V449M,Missense_V449M exm1452315 19 32955688 [A/G] NM_001172774,NM_207325 DPY19L3,DPY19L3 EXON Missense_K538E,Missense_K538E exm1452333 19 32971417 [A/G] NM_001172774,NM_207325 DPY19L3,DPY19L3 EXON Missense_R648H,Missense_R648H exm1452336 19 32971463 [T/C] NM_001172774,NM_207325 DPY19L3,DPY19L3 EXON Synonymous_H663H,Synonymous_H663H exm1452337 19 32972995 [A/G] NM_001172774,NM_207325 DPY19L3,DPY19L3 EXON Missense_G667D,Missense_G667D exm1452344 19 32973133 [T/C] NM_001172774,NM_207325 DPY19L3,DPY19L3 EXON Missense_S713F,Missense_S713F exm1452352 19 33072213 [A/G] NM_004708 PDCD5 EXON Missense_E16K exm1452367 19 33073114 [T/C] NM_004708 PDCD5 EXON Missense_A27V exm1452379 19 33075916 [A/G] NM_004708 PDCD5 EXON Synonymous_R55R exm1452396 19 33089155 [A/G] NM_032139 ANKRD27 EXON Missense_R1017W exm1452401 19 33089209 [A/T] NM_032139 ANKRD27 EXON Missense_N999Y exm1452402 19 33089252 [T/A] NM_032139 ANKRD27 EXON Missense_N984K exm1452411 19 33092956 [T/C] NM_032139 ANKRD27 EXON Missense_R911H exm1452421 19 33095200 [T/C] NM_032139 ANKRD27 EXON Missense_R875Q exm1452422 19 33095201 [A/G] NM_032139 ANKRD27 EXON Missense_R875W exm1452425 19 33095258 [T/C] NM_032139 ANKRD27 EXON Missense_V856I exm1452443 19 33098591 [T/C] NM_032139 ANKRD27 EXON Missense_A775T exm1452459 19 33098692 [T/C] NM_032139 ANKRD27 EXON Missense_S741N exm1452463 19 33098729 [T/C] NM_032139 ANKRD27 EXON Missense_K729E exm2268226 19 33106742 [A/G] NM_032139 ANKRD27 Silent exm1452477 19 33110204 [T/C] NM_032139 ANKRD27 EXON Missense_S657G exm1452483 19 33110404 [A/G] NM_032139 ANKRD27 EXON Missense_S628F exm1452490 19 33113389 [A/G] NM_032139 ANKRD27 EXON Missense_A589V exm1452496 19 33113434 [T/C] NM_032139 ANKRD27 EXON Missense_R574H exm1452512 19 33117658 [A/G] NM_032139 ANKRD27 EXON Missense_P499L exm1452514 19 33117695 [T/C] NM_032139 ANKRD27 EXON Missense_A487T exm1452521 19 33118990 [T/A] NM_032139 ANKRD27 EXON Nonsense_C473X exm1452523 19 33119653 [T/C] NM_032139 ANKRD27 EXON Missense_D438N exm1452529 19 33119742 [T/C] NM_032139 ANKRD27 EXON Missense_G408D exm1931757 19 33131244 [A/G] NM_032139 ANKRD27 EXON Missense_Y318H exm1452560 19 33134207 [T/C] NM_032139 ANKRD27 EXON Missense_M231V exm1452570 19 33134365 [T/G] NM_032139 ANKRD27 EXON Missense_Q204P exm1452577 19 33135257 [C/G] NM_032139 ANKRD27 EXON Missense_E167Q exm1452578 19 33135343 [A/G] NM_032139 ANKRD27 EXON Missense_I138T exm1452586 19 33140652 [A/G] NM_032139 ANKRD27 EXON Missense_T50I exm1452592 19 33149827 [T/G] NM_032139 ANKRD27 EXON Missense_H32P exm1452607 19 33167455 [T/G] NM_207391 RGS9BP EXON Missense_A96S exm1452613 19 33167837 [T/C] NM_207391 RGS9BP EXON Missense_A223V exm1452633 19 33183191 [A/G] NM_001105570 NUDT19 EXON Missense_D109N exm1452636 19 33183225 [A/C] NM_001105570 NUDT19 EXON Missense_E120A exm1452637 19 33183228 [A/G] NM_001105570 NUDT19 EXON Missense_D121G exm2253769 19 33183265 [T/C] NM_001105570 NUDT19 EXON Synonymous_F133F exm1452655 19 33183442 [A/G] NM_001105570 NUDT19 EXON Nonsense_W192X exm1452659 19 33183489 [T/C] NM_001105570 NUDT19 EXON Missense_T208I exm1452665 19 33183575 [T/A] NM_001105570 NUDT19 EXON Missense_Y237N exm1452671 19 33200163 [A/G] NM_001105570 NUDT19 EXON Missense_E263K exm1452674 19 33200254 [T/C] NM_001105570 NUDT19 EXON Missense_P293L exm1931809 19 33202659 [T/C] NM_001105570 NUDT19 EXON Synonymous_G308G exm1452693 19 33229861 [A/G] NM_001110822 TDRD12 EXON Missense_V95M exm1452701 19 33239402 [A/G] NM_001110822 TDRD12 EXON Missense_N154S exm1452707 19 33240734 [A/G] NM_001110822 TDRD12 EXON Missense_T181A exm1452710 19 33247965 [T/C] NM_001110822 TDRD12 EXON Missense_P265L exm1452740 19 33321545 [A/G] NM_001126335,NM_001243036,NM_014270 SLC7A9,SLC7A9,SLC7A9 EXON Missense_P482L,Missense_P482L,Missense_P482L exm1452741 19 33321546 [A/G] NM_001126335,NM_001243036,NM_014270 SLC7A9,SLC7A9,SLC7A9 EXON Missense_P482S,Missense_P482S,Missense_P482S exm1452744 19 33321587 [A/G] NM_001126335,NM_001243036,NM_014270 SLC7A9,SLC7A9,SLC7A9 EXON Missense_P468L,Missense_P468L,Missense_P468L exm1452750 19 33324223 [T/C] NM_001126335,NM_001243036,NM_014270 SLC7A9,SLC7A9,SLC7A9 EXON Missense_V411I,Missense_V411I,Missense_V411I exm1452751 19 33333099 [T/C] NM_001126335,NM_001243036,NM_014270 SLC7A9,SLC7A9,SLC7A9 EXON Missense_R400K,Missense_R400K,Missense_R400K exm1452752 19 33333102 [G/C] NM_001126335,NM_001243036,NM_014270 SLC7A9,SLC7A9,SLC7A9 EXON Missense_T399R,Missense_T399R,Missense_T399R exm1452760 19 33334838 [A/G] NM_001126335,NM_001243036,NM_014270 SLC7A9,SLC7A9,SLC7A9 EXON Missense_R333W,Missense_R333W,Missense_R333W exm1452763 19 33334847 [T/C] NM_001126335,NM_001243036,NM_014270 SLC7A9,SLC7A9,SLC7A9 EXON Missense_V330M,Missense_V330M,Missense_V330M exm1452780 19 33350808 [T/C] NM_001126335,NM_001243036,NM_014270 SLC7A9,SLC7A9,SLC7A9 EXON Missense_N271S,Missense_N271S,Missense_N271S exm2276626 19 33353057 [A/G] NM_001126335,NM_001243036,NM_014270 SLC7A9,SLC7A9,SLC7A9 EXON Missense_A224V,Missense_A224V,Missense_A224V exm1452793 19 33353061 [T/G] NM_001126335,NM_001243036,NM_014270 SLC7A9,SLC7A9,SLC7A9 EXON Missense_L223M,Missense_L223M,Missense_L223M exm2277155 19 33353424 [T/C] NM_001126335,NM_001243036,NM_014270 SLC7A9,SLC7A9,SLC7A9 EXON Missense_A183T,Missense_A183T,Missense_A183T exm1452801 19 33353427 [T/C] NM_001126335,NM_001243036,NM_014270 SLC7A9,SLC7A9,SLC7A9 EXON Missense_A182T,Missense_A182T,Missense_A182T exm1452803 19 33353445 [T/C] NM_001126335,NM_001243036,NM_014270 SLC7A9,SLC7A9,SLC7A9 EXON Missense_V176I,Missense_V176I,Missense_V176I exm1452811 19 33355055 [A/G] NM_001126335,NM_001243036,NM_014270 SLC7A9,SLC7A9,SLC7A9 EXON Missense_V142A,Missense_V142A,Missense_V142A exm1452817 19 33355112 [A/G] NM_001126335,NM_001243036,NM_014270 SLC7A9,SLC7A9,SLC7A9 EXON Missense_T123M,Missense_T123M,Missense_T123M exm1452824 19 33355167 [T/C] NM_001126335,NM_001243036,NM_014270 SLC7A9,SLC7A9,SLC7A9 EXON Missense_G105R,Missense_G105R,Missense_G105R exm-rs12460876 19 33356891 [T/C] NM_001126335,NM_001243036,NM_014270 SLC7A9,SLC7A9,SLC7A9 Silent,Silent,Silent exm-rs8101881 19 33364628 [T/C] exm1452848 19 33370070 [A/G] NM_032816 CEP89 EXON Missense_X784Q exm1452850 19 33370084 [A/T] NM_032816 CEP89 EXON Missense_H779L exm1452857 19 33370222 [T/C] NM_032816 CEP89 EXON Missense_R733Q exm1452858 19 33370223 [A/G] NM_032816 CEP89 EXON Nonsense_R733X exm1452861 19 33372765 [A/G] NM_032816 CEP89 EXON Missense_A707V exm1452864 19 33372814 [A/G] NM_032816 CEP89 EXON Missense_R691W exm1452870 19 33378696 [T/C] NM_032816 CEP89 EXON Missense_S643G exm1452873 19 33390782 [T/C] NM_032816 CEP89 EXON Missense_R619H exm1452887 19 33392223 [A/G] NM_032816 CEP89 EXON Missense_L554S exm1452889 19 33392287 [T/C] NM_032816 CEP89 EXON Missense_A533T exm1452900 19 33406327 [T/C] NM_032816 CEP89 EXON Missense_R494H exm1452901 19 33406328 [A/G] NM_032816 CEP89 EXON Missense_R494C exm1452908 19 33409142 [A/G] NM_032816 CEP89 EXON Missense_R458C exm1452917 19 33414420 [A/G] NM_032816 CEP89 EXON Missense_V398A exm2272782 19 33418175 [T/G] NM_032816 CEP89 Silent exm1452924 19 33422403 [T/C] NM_032816 CEP89 EXON Missense_T321A exm1931893 19 33424371 [A/G] NM_032816 CEP89 EXON Missense_A291V exm1452944 19 33430791 [A/T] NM_032816 CEP89 EXON Missense_D199V exm1452947 19 33439187 [A/G] NM_032816 CEP89 EXON Missense_R194W exm1931897 19 33439219 [T/C] NM_032816 CEP89 EXON Missense_D183G exm1452954 19 33444576 [T/C] NM_032816 CEP89 EXON Missense_R146Q exm1452955 19 33444588 [T/G] NM_032816 CEP89 EXON Missense_D142A exm1452970 19 33444707 [T/C] NM_032816 CEP89 EXON Synonymous_R102R exm1452971 19 33450806 [T/C] NM_032816 CEP89 EXON Missense_R102Q exm1452975 19 33450920 [T/C] NM_032816 CEP89 EXON Missense_R64Q exm-rs4805834 19 33453659 [T/C] NM_032816 CEP89 Silent exm1452978 19 33457296 [T/C] NM_032816 CEP89 EXON Missense_R39H exm1452979 19 33457297 [A/G] NM_032816 CEP89 EXON Missense_R39C exm1452988 19 33464181 [A/G] NM_152266 C19orf40 EXON Missense_G27R exm1452991 19 33464209 [A/G] NM_152266 C19orf40 Silent exm1453004 19 33465006 [A/G] NM_152266 C19orf40 EXON Missense_R95Q exm1453011 19 33465099 [T/C] NM_152266 C19orf40 EXON Missense_S126F exm1453016 19 33467413 [T/C] NM_152266 C19orf40 EXON Missense_S158L exm1453018 19 33467427 [A/G] NM_152266 C19orf40 EXON Missense_V163M exm1453019 19 33467466 [T/C] NM_152266 C19orf40 EXON Missense_L176F exm1453024 19 33467515 [T/C] NM_152266 C19orf40 EXON Missense_I192T exm1453027 19 33467575 [T/C] NM_152266 C19orf40 EXON Missense_T212M exm1453035 19 33470924 [T/C] NM_033103 RHPN2 EXON Missense_N680S exm1453079 19 33490500 [T/C] NM_033103 RHPN2 EXON Missense_R406Q exm1453089 19 33493200 [A/G] NM_033103 RHPN2 EXON Missense_A353V exm1453107 19 33493835 [T/C] NM_033103 RHPN2 EXON Missense_V278M exm2228907 19 33493852 [A/C] NM_033103 RHPN2 EXON Missense_S272I exm1453115 19 33498943 [A/G] NM_033103 RHPN2 EXON Missense_I246T exm1453117 19 33498967 [A/G] NM_033103 RHPN2 EXON Missense_T238M exm1453137 19 33512497 [T/C] NM_033103 RHPN2 EXON Missense_D124N exm-rs10411210 19 33532300 [T/C] NM_033103 RHPN2 Silent exm1453164 19 33579109 [A/G] NM_018025 GPATCH1 EXON Missense_R48Q exm1453170 19 33579157 [C/G] NM_018025 GPATCH1 EXON Missense_T64S exm1453173 19 33581715 [C/G] NM_018025 GPATCH1 EXON Missense_R80G exm1453177 19 33584313 [A/G] NM_018025 GPATCH1 EXON Missense_D115N exm1453180 19 33584352 [C/G] NM_018025 GPATCH1 EXON Missense_A128P exm2263595 19 33584385 [T/C] NM_018025 GPATCH1 EXON Missense_P139S exm1453197 19 33586715 [A/G] NM_018025 GPATCH1 EXON Missense_E201K exm1453203 19 33587159 [A/C] NM_018025 GPATCH1 EXON Missense_K220T exm1932005 19 33587244 [T/G] NM_018025 GPATCH1 EXON Missense_F248L exm1453206 19 33587252 [T/C] NM_018025 GPATCH1 EXON Missense_S251L exm1453218 19 33588770 [A/G] NM_018025 GPATCH1 EXON Missense_Y321C exm1453219 19 33588775 [T/C] NM_018025 GPATCH1 EXON Missense_W323R exm1453224 19 33597676 [A/G] NM_018025 GPATCH1 EXON Missense_E386K exm1453233 19 33600655 [T/C] NM_018025 GPATCH1 EXON Nonsense_Q440X exm1453236 19 33600764 [T/C] NM_018025 GPATCH1 EXON Missense_L476P exm1453237 19 33600767 [T/C] NM_018025 GPATCH1 EXON Missense_S477F exm2263600 19 33600804 [A/G] NM_018025 GPATCH1 EXON Missense_M489I exm1453245 19 33600896 [T/C] NM_018025 GPATCH1 EXON Missense_L520S exm1453246 19 33600898 [A/G] NM_018025 GPATCH1 EXON Missense_V521I exm1453248 19 33600922 [T/G] NM_018025 GPATCH1 EXON Missense_D529Y exm1453252 19 33602641 [T/C] NM_018025 GPATCH1 EXON Missense_R533C exm1453263 19 33603392 [A/G] NM_018025 GPATCH1 EXON Missense_N589D exm1453265 19 33603404 [T/G] NM_018025 GPATCH1 EXON Missense_D593Y exm1453272 19 33604701 [A/C] NM_018025 GPATCH1 EXON Missense_K641Q exm1453278 19 33604800 [C/G] NM_018025 GPATCH1 EXON Missense_G674R exm1453284 19 33605300 [A/G] NM_018025 GPATCH1 EXON Missense_H724R exm1453285 19 33605312 [T/C] NM_018025 GPATCH1 EXON Missense_L728S exm2263604 19 33608733 [A/C] NM_018025 GPATCH1 EXON Synonymous_T733T exm1453291 19 33608785 [T/A] NM_018025 GPATCH1 EXON Missense_M751L exm1453296 19 33608885 [A/G] NM_018025 GPATCH1 EXON Missense_G784E exm1453307 19 33616059 [A/C] NM_018025 GPATCH1 EXON Missense_N857T exm1453308 19 33616077 [T/C] NM_018025 GPATCH1 EXON Missense_A863V exm1453317 19 33617599 [A/G] NM_018025 GPATCH1 EXON Missense_E909K exm1453318 19 33617614 [A/G] NM_018025 GPATCH1 EXON Missense_V914M exm1453331 19 33628589 [T/C] NM_173479 WDR88 EXON Missense_F95L exm1453333 19 33628616 [A/G] NM_173479 WDR88 EXON Missense_A104T exm1453335 19 33628625 [A/C] NM_173479 WDR88 EXON Missense_T107P exm-rs3848596 19 33635761 [T/C] NM_173479 WDR88 EXON Synonymous_D133D exm1453358 19 33639704 [T/C] NM_173479 WDR88 EXON Synonymous_I189I exm2253771 19 33639704 [T/C] NM_173479 WDR88 EXON Synonymous_I189I exm1453361 19 33639755 [C/G] NM_173479 WDR88 EXON Missense_D206E exm1453363 19 33639807 [A/G] NM_173479 WDR88 EXON Missense_V224I exm1453374 19 33647379 [T/C] NM_173479 WDR88 EXON Missense_C310R exm1453378 19 33651385 [T/C] NM_173479 WDR88 EXON Missense_R355W exm1453379 19 33651386 [A/G] NM_173479 WDR88 EXON Missense_R355Q exm2264680 19 33652247 [A/C] NM_173479 WDR88 Silent exm1453382 19 33655154 [A/G] NM_173479 WDR88 EXON Missense_I378V exm1453386 19 33666305 [A/G] NM_173479 WDR88 EXON Missense_E416K exm1453389 19 33666345 [A/C] NM_173479 WDR88 EXON Missense_T429N exm1453407 19 33693755 [A/G] NM_002333 LRP3 EXON Synonymous_A41A exm1453409 19 33693784 [T/C] NM_002333 LRP3 EXON Missense_T51M exm1453421 19 33695620 [T/C] NM_002333 LRP3 EXON Missense_R113C exm1453422 19 33695621 [A/G] NM_002333 LRP3 EXON Missense_R113H exm1453432 19 33696221 [T/C] NM_002333 LRP3 EXON Missense_P182L exm1453437 19 33696281 [T/C] NM_002333 LRP3 EXON Missense_A202V exm1453445 19 33696362 [T/C] NM_002333 LRP3 EXON Missense_P229L exm1453483 19 33696830 [A/G] NM_002333 LRP3 EXON Missense_S385N exm1453486 19 33696841 [G/C] NM_002333 LRP3 EXON Missense_Q389E exm1453490 19 33696926 [T/C] NM_002333 LRP3 EXON Missense_P417L exm2228915 19 33697048 [A/G] NM_002333 LRP3 EXON Missense_G458S exm1932105 19 33697628 [A/G] NM_002333 LRP3 EXON Missense_S572G exm1453524 19 33697634 [T/C] NM_002333 LRP3 EXON Missense_S574P exm1453528 19 33697928 [A/G] NM_002333 LRP3 EXON Missense_R587Q exm1453543 19 33698291 [T/C] NM_002333 LRP3 EXON Missense_V708A exm1453545 19 33698297 [A/G] NM_002333 LRP3 EXON Missense_G710D exm1932111 19 33698426 [T/C] NM_002333 LRP3 EXON Missense_P753L exm1453556 19 33698476 [T/A] NM_002333 LRP3 EXON Missense_C770S exm1453564 19 33699892 [T/C] NM_019849 SLC7A10 EXON Missense_V493M exm1453565 19 33699904 [T/C] NM_019849 SLC7A10 EXON Missense_E489K exm1453567 19 33700243 [T/C] NM_019849 SLC7A10 EXON Missense_S471N exm1453572 19 33700298 [T/C] NM_019849 SLC7A10 EXON Missense_V453I exm1453577 19 33701408 [A/G] NM_019849 SLC7A10 EXON Missense_R410C exm1453588 19 33701513 [T/C] NM_019849 SLC7A10 EXON Missense_T375A exm1453599 19 33702322 [T/C] NM_019849 SLC7A10 EXON Missense_V304M exm1453605 19 33702432 [T/C] NM_019849 SLC7A10 EXON Missense_R267H exm1453623 19 33703503 [A/G] NM_019849 SLC7A10 EXON Missense_T184M exm1453624 19 33703513 [A/G] NM_019849 SLC7A10 EXON Missense_R181C exm1453643 19 33706695 [C/G] NM_019849 SLC7A10 EXON Missense_E112D exm1453652 19 33706859 [T/C] NM_019849 SLC7A10 EXON Missense_I58V exm1453654 19 33706868 [T/C] NM_019849 SLC7A10 EXON Missense_G55S exm-rs10500264 19 33750314 [A/G] exm-rs736289 19 33757062 [T/C] exm1453668 19 33792494 [T/C] NM_004364 CEBPA EXON Missense_K276R exm1453692 19 33870155 [A/G] NM_001806,NM_001252296 CEBPG,CEBPG EXON Missense_I4V,Missense_I4V exm1932147 19 33870176 [C/G] NM_001806,NM_001252296 CEBPG,CEBPG EXON Missense_P11A,Missense_P11A exm1453694 19 33870201 [A/T] NM_001806,NM_001252296 CEBPG,CEBPG EXON Missense_I19N,Missense_I19N exm1453717 19 33878269 [C/G] NM_000285,NM_001166057,NM_001166056 PEPD,PEPD,PEPD EXON Missense_P488R,Missense_P424R,Missense_P447R exm1453720 19 33878290 [A/C] NM_000285,NM_001166057,NM_001166056 PEPD,PEPD,PEPD EXON Missense_G481V,Missense_G417V,Missense_G440V exm1453721 19 33878318 [T/C] NM_000285,NM_001166057,NM_001166056 PEPD,PEPD,PEPD EXON Missense_V472M,Missense_V408M,Missense_V431M exm1453722 19 33878347 [A/G] NM_000285,NM_001166057,NM_001166056 PEPD,PEPD,PEPD EXON Missense_I462T,Missense_I398T,Missense_I421T exm1453731 19 33878837 [A/G] NM_000285,NM_001166057,NM_001166056 PEPD,PEPD,PEPD EXON Missense_L435F,Missense_L371F,Missense_L394F exm1453732 19 33878846 [T/C] NM_000285,NM_001166057,NM_001166056 PEPD,PEPD,PEPD EXON Missense_A432T,Missense_A368T,Missense_A391T exm1453736 19 33878884 [T/C] NM_000285,NM_001166057,NM_001166056 PEPD,PEPD,PEPD EXON Missense_D419G,Missense_D355G,Missense_D378G exm1453740 19 33878977 [T/C] NM_000285,NM_001166057,NM_001166056 PEPD,PEPD,PEPD EXON Missense_R388H,Missense_R324H,Missense_R347H exm1453748 19 33882259 [A/G] NM_000285,NM_001166057,NM_001166056 PEPD,PEPD,PEPD EXON Missense_P365L,Missense_P301L,Missense_P324L exm1453750 19 33882274 [T/C] NM_000285,NM_001166057,NM_001166056 PEPD,PEPD,PEPD EXON Missense_G360E,Missense_G296E,Missense_G319E exm1453765 19 33892731 [A/G] NM_000285,NM_001166057,NM_001166056 PEPD,PEPD,PEPD EXON Missense_I288T,Missense_I224T,Missense_I247T exm1453766 19 33892735 [T/C] NM_000285,NM_001166057,NM_001166056 PEPD,PEPD,PEPD EXON Missense_D287N,Missense_D223N,Missense_D246N exm-rs731839 19 33899065 [A/G] NM_000285,NM_001166057,NM_001166056 PEPD,PEPD,PEPD Silent,Silent,Silent exm1453774 19 33902602 [T/C] NM_000285,NM_001166057,NM_001166056 PEPD,PEPD,PEPD EXON Missense_R265Q,Missense_R201Q,Missense_R224Q exm1453783 19 33902645 [T/A] NM_000285,NM_001166057,NM_001166056 PEPD,PEPD,PEPD EXON Missense_S251T,Missense_S187T,Missense_S210T exm2272783 19 33906123 [T/C] NM_000285,NM_001166057,NM_001166056 PEPD,PEPD,PEPD Silent,Silent,Silent exm-rs8182584 19 33909710 [T/G] NM_000285,NM_001166057,NM_001166056 PEPD,PEPD,PEPD Silent,Silent,Silent exm1453796 19 33954951 [T/C] NM_000285,NM_001166057,NM_001166056 PEPD,PEPD,PEPD EXON Missense_D189G,Missense_D125G,Silent exm1453802 19 33968991 [A/T] NM_000285,NM_001166057,NM_001166056 PEPD,PEPD,PEPD EXON Missense_E170V,Missense_E106V,Missense_E170V exm1453810 19 33980963 [A/G] NM_000285,NM_001166057,NM_001166056 PEPD,PEPD,PEPD EXON Missense_R148C,Missense_R84C,Missense_R148C exm1453818 19 34002004 [T/C] NM_000285,NM_001166057,NM_001166056 PEPD,PEPD,PEPD EXON Missense_D87N,Silent,Missense_D87N exm1453823 19 34003548 [T/C] NM_000285,NM_001166057,NM_001166056 PEPD,PEPD,PEPD EXON Missense_G51E,Missense_G51E,Missense_G51E exm1453830 19 34003666 [T/C] NM_000285,NM_001166057,NM_001166056 PEPD,PEPD,PEPD EXON Missense_G12R,Missense_G12R,Missense_G12R exm-rs4805924 19 34168273 [T/C] NM_001127895,NM_001127896 CHST8,CHST8 Silent,Silent exm-rs8110889 19 34177770 [T/C] NM_001127895,NM_001127896,NM_022467 CHST8,CHST8,CHST8 Silent,Silent,Silent exm1453852 19 34262922 [T/C] NM_001127895,NM_001127896,NM_022467 CHST8,CHST8,CHST8 EXON Missense_R77W,Missense_R77W,Missense_R77W exm1453855 19 34262952 [T/C] NM_001127895,NM_001127896,NM_022467 CHST8,CHST8,CHST8 EXON Missense_R87C,Missense_R87C,Missense_R87C exm1453865 19 34263192 [T/C] NM_001127895,NM_001127896,NM_022467 CHST8,CHST8,CHST8 EXON Missense_Y167H,Missense_Y167H,Missense_Y167H exm1453867 19 34263229 [A/G] NM_001127895,NM_001127896,NM_022467 CHST8,CHST8,CHST8 EXON Missense_R179H,Missense_R179H,Missense_R179H exm1453869 19 34263258 [T/C] NM_001127895,NM_001127896,NM_022467 CHST8,CHST8,CHST8 EXON Missense_R189C,Missense_R189C,Missense_R189C exm1453876 19 34263487 [T/G] NM_001127895,NM_001127896,NM_022467 CHST8,CHST8,CHST8 EXON Missense_V265G,Missense_V265G,Missense_V265G exm1453888 19 34263930 [A/G] NM_001127895,NM_001127896,NM_022467 CHST8,CHST8,CHST8 EXON Missense_M413V,Missense_M413V,Missense_M413V exm1453896 19 34291424 [T/C] NM_024076,NM_001129995,NM_001129994 KCTD15,KCTD15,KCTD15 EXON Missense_A22V,Missense_A22V,Missense_A22V exm1453909 19 34297862 [A/G] NM_024076,NM_001129995,NM_001129994 KCTD15,KCTD15,KCTD15 EXON Missense_V113I,Missense_V113I,Missense_V113I exm1932230 19 34302354 [T/C] NM_024076,NM_001129995,NM_001129994 KCTD15,KCTD15,KCTD15 EXON Missense_T197I,Missense_T197I,Missense_T197I exm-rs29941 19 34309532 [A/G] exm-rs11084753 19 34322137 [A/G] exm2268190 19 34556604 [A/G] exm1453956 19 34687560 [T/C] NM_015578,NM_001114093 LSM14A,LSM14A EXON Missense_S103P,Missense_S103P exm1453958 19 34687596 [A/G] NM_015578,NM_001114093 LSM14A,LSM14A EXON Missense_G115S,Missense_G115S exm1453972 19 34706203 [A/G] NM_015578,NM_001114093 LSM14A,LSM14A EXON Missense_R238Q,Missense_R238Q exm1453973 19 34706531 [A/G] NM_015578,NM_001114093 LSM14A,LSM14A EXON Missense_N249S,Missense_N249S exm1453994 19 34712587 [A/C] NM_015578,NM_001114093 LSM14A,LSM14A EXON Missense_R438S,Missense_R438S exm1453998 19 34712594 [A/G] NM_015578,NM_001114093 LSM14A,LSM14A EXON Missense_G440E,Missense_G440E exm1453999 19 34712618 [A/G] NM_015578,NM_001114093 LSM14A,LSM14A EXON Missense_R448Q,Missense_R448Q exm-rs10407640 19 34766588 [A/G] NM_014686 KIAA0355 Silent exm1454011 19 34791476 [T/C] NM_014686 KIAA0355 EXON Missense_P33L exm1454014 19 34791496 [A/G] NM_014686 KIAA0355 EXON Missense_A40T exm1454020 19 34791556 [A/G] NM_014686 KIAA0355 EXON Missense_A60T exm1454025 19 34791766 [A/C] NM_014686 KIAA0355 EXON Synonymous_R130R exm1454028 19 34791839 [T/C] NM_014686 KIAA0355 EXON Missense_T154M exm1454031 19 34810864 [A/C] NM_014686 KIAA0355 EXON Missense_T183N exm1454033 19 34810876 [A/G] NM_014686 KIAA0355 EXON Missense_Q187R exm1454071 19 34819055 [T/C] NM_014686 KIAA0355 EXON Missense_T368M exm1454090 19 34832707 [A/G] NM_014686 KIAA0355 EXON Missense_R623H exm1454097 19 34832940 [T/C] NM_014686 KIAA0355 EXON Missense_R701W exm1454098 19 34832941 [A/G] NM_014686 KIAA0355 EXON Missense_R701Q exm1454108 19 34833061 [T/C] NM_014686 KIAA0355 EXON Missense_I741T exm1454111 19 34833079 [T/C] NM_014686 KIAA0355 EXON Missense_P747L exm1454115 19 34833112 [A/C] NM_014686 KIAA0355 EXON Missense_H758P exm1932328 19 34833352 [A/G] NM_014686 KIAA0355 EXON Missense_D838G exm1454122 19 34838830 [T/C] NM_014686 KIAA0355 EXON Missense_A857V exm1454128 19 34838914 [A/G] NM_014686 KIAA0355 EXON Missense_R885Q exm1454146 19 34843565 [A/G] NM_014686 KIAA0355 EXON Missense_K973R exm1454149 19 34843604 [T/C] NM_014686 KIAA0355 EXON Missense_P986L exm1454154 19 34843633 [A/G] NM_014686 KIAA0355 EXON Missense_A996T exm1454175 19 34855876 [T/C] NM_001184722 GPI EXON Missense_L21P exm1454176 19 34855881 [A/C] NM_001184722 GPI EXON Missense_T23P exm1454189 19 34857320 [A/G] NM_001184722,NM_000175 GPI,GPI EXON Missense_M104V,Missense_M65V exm1454197 19 34859522 [A/G] NM_001184722,NM_000175 GPI,GPI EXON Missense_R145Q,Missense_R106Q exm2268227 19 34865551 [A/G] NM_001184722,NM_000175 GPI,GPI Silent,Silent exm1454201 19 34868409 [A/G] NM_001184722,NM_000175 GPI,GPI EXON Silent,Missense_R135H exm1454204 19 34868420 [A/G] NM_001184722,NM_000175 GPI,GPI EXON Silent,Missense_G139S exm1454217 19 34868776 [T/C] NM_001184722,NM_000175 GPI,GPI EXON Missense_I219T,Missense_I208T exm1454240 19 34884674 [A/C] NM_001184722,NM_000175 GPI,GPI EXON Missense_M314L,Missense_M303L exm1454242 19 34884835 [T/C] NM_001184722,NM_000175 GPI,GPI EXON Missense_T320M,Missense_T309M exm1454258 19 34890164 [T/C] NM_001184722,NM_000175 GPI,GPI EXON Missense_S452L,Missense_S441L exm1454264 19 34890208 [C/G] NM_001184722,NM_000175 GPI,GPI EXON Missense_P467A,Missense_P456A exm1454267 19 34890239 [A/C] NM_001184722,NM_000175 GPI,GPI EXON Missense_K477T,Missense_K466T exm1454295 19 34895647 [A/G] NM_032346 PDCD2L EXON Missense_G68S exm1454297 19 34895651 [T/C] NM_032346 PDCD2L EXON Missense_S69F exm1454298 19 34895654 [T/C] NM_032346 PDCD2L EXON Missense_P70L exm1454299 19 34895674 [T/G] NM_032346 PDCD2L EXON Missense_V77L exm1454307 19 34900195 [A/G] NM_032346 PDCD2L EXON Missense_V156I exm1454308 19 34900210 [T/C] NM_032346 PDCD2L EXON Missense_R161W exm2253774 19 34904702 [A/G] NM_032346 PDCD2L EXON Synonymous_T249T exm1454322 19 34904702 [A/G] NM_032346 PDCD2L EXON Synonymous_T249T exm1454332 19 34916935 [T/G] NM_032346 PDCD2L EXON Missense_C329W exm1454339 19 34921483 [T/G] NM_005499 UBA2 EXON Missense_I47M exm1454373 19 34942926 [T/G] NM_005499 UBA2 EXON Missense_Q304H exm1454425 19 34983996 [A/C] NM_001080436 WTIP EXON Missense_Q275P exm1454433 19 34984490 [A/G] NM_001080436 WTIP EXON Missense_V332M exm1454449 19 34991160 [A/G] NM_001080436 WTIP EXON Missense_V427I exm2253775 19 34996252 [T/C] exm1454452 19 35084467 [C/G] NM_001025591 SCGB2B2 EXON Missense_A95G exm1454453 19 35084477 [T/C] NM_001025591 SCGB2B2 EXON Missense_I92V exm1454458 19 35085112 [T/C] NM_001025591 SCGB2B2 EXON Missense_V72M exm1454463 19 35085180 [A/C] NM_001025591 SCGB2B2 EXON Missense_R49L exm1454468 19 35085262 [T/C] NM_001025591 SCGB2B2 EXON Missense_D22N exm1454471 19 35085417 [T/C] NM_001025591 SCGB2B2 EXON Missense_V18I exm1454473 19 35085468 [T/C] NM_001025591 SCGB2B2 EXON Missense_M1V exm1454482 19 35173793 [T/G] NM_001012320,NM_018443 ZNF302,ZNF302 EXON Missense_V41F,Missense_V41F exm1454495 19 35175306 [A/G] NM_001012320,NM_018443 ZNF302,ZNF302 EXON Missense_D122N,Missense_D122N exm1454502 19 35175537 [A/G] NM_001012320,NM_018443 ZNF302,ZNF302 EXON Missense_K199E,Missense_K199E exm1454514 19 35175781 [T/C] NM_001012320,NM_018443 ZNF302,ZNF302 EXON Missense_T280M,Missense_T280M exm1454520 19 35175817 [A/T] NM_001012320,NM_018443 ZNF302,ZNF302 EXON Missense_K292M,Missense_K292M exm2228934 19 35175829 [A/G] NM_001012320,NM_018443 ZNF302,ZNF302 EXON Missense_R296H,Missense_R296H exm1454527 19 35175877 [A/G] NM_001012320,NM_018443 ZNF302,ZNF302 EXON Missense_R312H,Missense_R312H exm1454530 19 35176018 [A/G] NM_001012320,NM_018443 ZNF302,ZNF302 EXON Missense_H359R,Missense_H359R exm1454534 19 35225951 [C/G] NM_001145665,NM_001029997 ZNF181,ZNF181 EXON Missense_Q3H,Missense_Q3H exm1454541 19 35231638 [A/G] NM_001145665,NM_001029997 ZNF181,ZNF181 EXON Missense_K117E,Missense_K118E exm1454553 19 35231993 [T/C] NM_001145665,NM_001029997 ZNF181,ZNF181 EXON Missense_I235T,Missense_I236T exm1454567 19 35232254 [A/G] NM_001145665,NM_001029997 ZNF181,ZNF181 EXON Missense_C322Y,Missense_C323Y exm1454594 19 35232987 [A/C] NM_001145665,NM_001029997 ZNF181,ZNF181 EXON Missense_R566S,Missense_R567S exm1454605 19 35250046 [T/C] NM_001007248 ZNF599 EXON Missense_M554V exm1454626 19 35250448 [A/C] NM_001007248 ZNF599 EXON Nonsense_E420X exm1454627 19 35250451 [T/C] NM_001007248 ZNF599 EXON Missense_G419R exm1932530 19 35250471 [T/C] NM_001007248 ZNF599 EXON Missense_R412Q exm1454630 19 35250553 [C/G] NM_001007248 ZNF599 EXON Missense_H385D exm1454637 19 35250655 [A/G] NM_001007248 ZNF599 EXON Missense_R351C exm1454638 19 35250660 [A/G] NM_001007248 ZNF599 EXON Missense_T349M exm1454646 19 35250823 [A/G] NM_001007248 ZNF599 EXON Missense_R295C exm1454656 19 35250911 [T/A] NM_001007248 ZNF599 EXON Missense_K265N exm1454661 19 35250996 [T/C] NM_001007248 ZNF599 EXON Missense_R237H exm1454662 19 35250997 [A/G] NM_001007248 ZNF599 EXON Missense_R237C exm1454668 19 35251059 [T/C] NM_001007248 ZNF599 EXON Missense_R216Q exm1454669 19 35251060 [A/G] NM_001007248 ZNF599 EXON Missense_R216W exm1454670 19 35251080 [G/C] NM_001007248 ZNF599 EXON Missense_S209T exm1454677 19 35251269 [G/C] NM_001007248 ZNF599 EXON Missense_C146S exm1454681 19 35251344 [A/G] NM_001007248 ZNF599 EXON Missense_A121V exm1454685 19 35258224 [T/C] NM_001007248 ZNF599 EXON Missense_A80T exm1454704 19 35260442 [T/C] NM_001007248 ZNF599 EXON Missense_D13N exm1454711 19 35422771 [A/G] NM_001099438,NM_194325,NR_024018,NM_001099437 ZNF30,ZNF30,ZNF30,ZNF30 EXON Missense_G12R,Missense_G12R,Silent,Missense_G12R exm1454712 19 35422772 [A/G] NM_001099438,NM_194325,NR_024018,NM_001099437 ZNF30,ZNF30,ZNF30,ZNF30 EXON Missense_G12E,Missense_G12E,Silent,Missense_G12E exm1454713 19 35422808 [T/C] NM_001099438,NM_194325,NR_024018,NM_001099437 ZNF30,ZNF30,ZNF30,ZNF30 EXON Missense_S24F,Missense_S24F,Silent,Missense_S24F exm1454715 19 35424530 [A/G] NM_001099438,NM_194325,NR_024018,NM_001099437 ZNF30,ZNF30,ZNF30,ZNF30 EXON Synonymous_A54A,Silent,Silent,Synonymous_A54A exm1454716 19 35424541 [A/G] NM_001099438,NM_194325,NR_024018,NM_001099437 ZNF30,ZNF30,ZNF30,ZNF30 EXON Missense_R58H,Missense_R57H,Silent,Missense_R58H exm1454717 19 35424570 [A/G] NM_001099438,NM_194325,NR_024018,NM_001099437 ZNF30,ZNF30,ZNF30,ZNF30 EXON Missense_E68K,Missense_E67K,Silent,Missense_E68K exm1454720 19 35434144 [A/G] NM_001099438,NM_194325,NR_024018,NM_001099437 ZNF30,ZNF30,ZNF30,ZNF30 EXON Missense_D93N,Missense_D92N,Silent,Missense_D93N exm1454723 19 35434238 [A/G] NM_001099438,NM_194325,NR_024018,NM_001099437 ZNF30,ZNF30,ZNF30,ZNF30 EXON Missense_Q124R,Missense_Q123R,Silent,Missense_Q124R exm1454729 19 35434448 [A/G] NM_001099438,NM_194325,NR_024018,NM_001099437 ZNF30,ZNF30,ZNF30,ZNF30 EXON Missense_K194R,Missense_K193R,Silent,Missense_K194R exm1454737 19 35434582 [T/G] NM_001099438,NM_194325,NR_024018,NM_001099437 ZNF30,ZNF30,ZNF30,ZNF30 EXON Missense_G239W,Missense_G238W,Silent,Missense_G239W exm1454740 19 35434648 [T/C] NM_001099438,NM_194325,NR_024018,NM_001099437 ZNF30,ZNF30,ZNF30,ZNF30 EXON Missense_F261L,Missense_F260L,Silent,Missense_F261L exm1454748 19 35434793 [T/G] NM_001099438,NM_194325,NR_024018,NM_001099437 ZNF30,ZNF30,ZNF30,ZNF30 EXON Missense_R309I,Missense_R308I,Silent,Missense_R309I exm1454757 19 35435006 [A/G] NM_001099438,NM_194325,NR_024018,NM_001099437 ZNF30,ZNF30,ZNF30,ZNF30 EXON Missense_R380K,Missense_R379K,Silent,Missense_R380K exm1454760 19 35435059 [A/G] NM_001099438,NM_194325,NR_024018,NM_001099437 ZNF30,ZNF30,ZNF30,ZNF30 EXON Missense_E398K,Missense_E397K,Silent,Missense_E398K exm1454761 19 35435069 [A/G] NM_001099438,NM_194325,NR_024018,NM_001099437 ZNF30,ZNF30,ZNF30,ZNF30 EXON Missense_Y401C,Missense_Y400C,Silent,Missense_Y401C exm1454764 19 35435212 [A/T] NM_001099438,NM_194325,NR_024018,NM_001099437 ZNF30,ZNF30,ZNF30,ZNF30 EXON Missense_R449W,Missense_R448W,Silent,Missense_R449W exm1454767 19 35435279 [A/C] NM_001099438,NM_194325,NR_024018,NM_001099437 ZNF30,ZNF30,ZNF30,ZNF30 EXON Missense_H471P,Missense_H470P,Silent,Missense_H471P exm1454771 19 35435353 [T/C] NM_001099438,NM_194325,NR_024018,NM_001099437 ZNF30,ZNF30,ZNF30,ZNF30 EXON Nonsense_R496X,Nonsense_R495X,Silent,Nonsense_R496X exm1454779 19 35435496 [T/A] NM_001099438,NM_194325,NR_024018,NM_001099437 ZNF30,ZNF30,ZNF30,ZNF30 EXON Nonsense_C543X,Nonsense_C542X,Silent,Nonsense_C543X exm1454785 19 35435590 [A/G] NM_001099438,NM_194325,NR_024018,NM_001099437 ZNF30,ZNF30,ZNF30,ZNF30 EXON Missense_G575R,Missense_G574R,Silent,Missense_G575R exm1454788 19 35435632 [T/C] NM_001099438,NM_194325,NR_024018,NM_001099437 ZNF30,ZNF30,ZNF30,ZNF30 EXON Missense_R589W,Missense_R588W,Silent,Missense_R589W exm1454791 19 35435654 [A/C] NM_001099438,NM_194325,NR_024018,NM_001099437 ZNF30,ZNF30,ZNF30,ZNF30 EXON Missense_P596H,Missense_P595H,Silent,Missense_P596H exm1454800 19 35448919 [T/C] NM_175872 ZNF792 EXON Missense_A614T exm1932608 19 35448945 [G/C] NM_175872 ZNF792 EXON Missense_S605T exm1454804 19 35449050 [G/C] NM_175872 ZNF792 EXON Missense_A570G exm1932610 19 35449051 [T/C] NM_175872 ZNF792 EXON Missense_A570T exm1454814 19 35449123 [T/C] NM_175872 ZNF792 EXON Missense_R546G exm1454819 19 35449180 [A/G] NM_175872 ZNF792 EXON Missense_L527F exm1454820 19 35449185 [T/C] NM_175872 ZNF792 EXON Missense_R525Q exm1454821 19 35449186 [A/G] NM_175872 ZNF792 EXON Missense_R525W exm1454826 19 35449248 [T/C] NM_175872 ZNF792 EXON Missense_R504Q exm1454839 19 35449401 [T/C] NM_175872 ZNF792 EXON Missense_G453D exm1454844 19 35449486 [T/C] NM_175872 ZNF792 EXON Missense_N425D exm1454853 19 35449651 [T/C] NM_175872 ZNF792 EXON Missense_D370N exm1932620 19 35449714 [A/G] NM_175872 ZNF792 EXON Nonsense_R349X exm1454861 19 35449773 [T/C] NM_175872 ZNF792 EXON Missense_R329H exm1454863 19 35449809 [T/C] NM_175872 ZNF792 EXON Missense_K317R exm1454867 19 35449876 [T/C] NM_175872 ZNF792 EXON Missense_A295T exm1454884 19 35450119 [T/C] NM_175872 ZNF792 EXON Missense_E214K exm1454888 19 35450229 [T/C] NM_175872 ZNF792 EXON Missense_R177Q exm1454894 19 35450340 [T/C] NM_175872 ZNF792 EXON Missense_R140H exm1454898 19 35450407 [T/G] NM_175872 ZNF792 EXON Missense_Q118K exm1454899 19 35450475 [T/C] NM_175872 ZNF792 EXON Missense_D95G exm1454907 19 35451790 [T/C] NM_175872 ZNF792 EXON Missense_A48T exm1454911 19 35451885 [A/G] NM_175872 ZNF792 EXON Missense_F16S exm1454930 19 35500343 [A/G] NM_020895,NM_001136199 GRAMD1A,GRAMD1A EXON Missense_Y79C,Silent exm1454938 19 35501098 [T/C] NM_020895,NM_001136199 GRAMD1A,GRAMD1A EXON Missense_T143M,Missense_T136M exm1454946 19 35504495 [T/C] NM_020895,NM_001136199 GRAMD1A,GRAMD1A EXON Missense_S257L,Missense_S250L exm1454948 19 35504510 [A/G] NM_020895,NM_001136199 GRAMD1A,GRAMD1A EXON Missense_R262H,Missense_R255H exm1454951 19 35504539 [T/C] NM_020895,NM_001136199 GRAMD1A,GRAMD1A EXON Missense_R272C,Missense_R265C exm1932702 19 35504573 [T/C] NM_020895,NM_001136199 GRAMD1A,GRAMD1A EXON Missense_A283V,Missense_A276V exm1454963 19 35505190 [T/C] NM_020895,NM_001136199 GRAMD1A,GRAMD1A EXON Missense_T323I,Missense_T316I exm1454967 19 35505292 [A/G] NM_020895,NM_001136199 GRAMD1A,GRAMD1A Silent,Silent exm1454969 19 35506729 [A/G] NM_020895,NM_001136199 GRAMD1A,GRAMD1A EXON Synonymous_A357A,Synonymous_A350A exm1454975 19 35506824 [T/C] NM_020895,NM_001136199 GRAMD1A,GRAMD1A EXON Missense_S389L,Missense_S382L exm1454977 19 35510096 [T/C] NM_020895,NM_001136199 GRAMD1A,GRAMD1A EXON Synonymous_D405D,Synonymous_D398D exm1454983 19 35510304 [T/C] NM_020895,NM_001136199 GRAMD1A,GRAMD1A EXON Missense_R448W,Missense_R441W exm1454997 19 35512504 [A/G] NM_020895,NM_001136199 GRAMD1A,GRAMD1A EXON Missense_H525R,Missense_H518R exm1455009 19 35512741 [T/C] NM_020895,NM_001136199 GRAMD1A,GRAMD1A EXON Missense_C576R,Missense_C569R exm1455010 19 35512748 [T/G] NM_020895,NM_001136199 GRAMD1A,GRAMD1A EXON Missense_R578L,Missense_R571L exm1455058 19 35524824 [T/C] NM_199037,NM_001037 SCN1B,SCN1B EXON Missense_L210P,Silent exm1455061 19 35524939 [A/C] NM_199037,NM_001037 SCN1B,SCN1B EXON Missense_S248R,Silent exm1455062 19 35524944 [C/G] NM_199037,NM_001037 SCN1B,SCN1B EXON Missense_R250T,Silent exm1455065 19 35524964 [A/G] NM_199037,NM_001037 SCN1B,SCN1B EXON Missense_G257R,Silent exm1455082 19 35540200 [A/G] NM_182983,NM_002151 HPN,HPN EXON Missense_R8Q,Missense_R8Q exm1455092 19 35540409 [T/C] NM_182983,NM_002151 HPN,HPN EXON Missense_P50L,Missense_P50L exm2228946 19 35550609 [G/C] NM_182983,NM_002151,NR_024562 HPN,HPN,LOC100128675 EXON Missense_V65L,Missense_V65L,Silent exm1455094 19 35550624 [A/G] NM_182983,NM_002151,NR_024562 HPN,HPN,LOC100128675 EXON Missense_E70K,Missense_E70K,Silent exm1455099 19 35550810 [A/C] NM_182983,NM_002151,NR_024562 HPN,HPN,LOC100128675 EXON Missense_T108K,Missense_T108K,Silent exm1932779 19 35550869 [A/G] NM_182983,NM_002151,NR_024562 HPN,HPN,LOC100128675 EXON Missense_T128A,Missense_T128A,Silent exm1455103 19 35550890 [T/A] NM_182983,NM_002151,NR_024562 HPN,HPN,LOC100128675 EXON Missense_I135F,Missense_I135F,Silent exm1455104 19 35550896 [A/G] NM_182983,NM_002151,NR_024562 HPN,HPN,LOC100128675 EXON Missense_V137M,Missense_V137M,Silent exm1455107 19 35551050 [A/G] NM_182983,NM_002151,NR_024562 HPN,HPN,LOC100128675 EXON Missense_R144H,Missense_R144H,Silent exm1455109 19 35551260 [A/G] NM_182983,NM_002151,NR_024562 HPN,HPN,LOC100128675 EXON Missense_R155H,Missense_R155H,Silent exm1455119 19 35551574 [T/G] NM_182983,NM_002151,NR_024562 HPN,HPN,LOC100128675 EXON Missense_V222L,Missense_V222L,Silent exm1455124 19 35551664 [A/G] NM_182983,NM_002151,NR_024562 HPN,HPN,LOC100128675 EXON Missense_E252K,Missense_E252K,Silent exm2272785 19 35597620 [T/C] exm1932799 19 35611983 [G/C] NM_001136007,NM_001136008,NM_021910,NM_005971,NM_001136009,NM_001136011,NM_001136012,NM_001136010 FXYD3,FXYD3,FXYD3,FXYD3,FXYD3,FXYD3,FXYD3,FXYD3 EXON Synonymous_G71G,Synonymous_G14G,Synonymous_G14G,Synonymous_G14G,Synonymous_G14G,Synonymous_G14G,Synonymous_G14G,Synonymous_G14G exm1932801 19 35612132 [A/G] NM_001136007,NM_001136008,NM_021910,NM_005971,NM_001136009,NM_001136011,NM_001136012,NM_001136010 FXYD3,FXYD3,FXYD3,FXYD3,FXYD3,FXYD3,FXYD3,FXYD3 EXON Missense_N84S,Missense_N27S,Missense_N27S,Missense_N27S,Missense_N27S,Missense_N27S,Missense_N27S,Missense_N27S exm1455170 19 35613689 [A/G] NM_001136007,NM_001136008,NM_021910,NM_005971,NM_001136011,NM_001136012 FXYD3,FXYD3,FXYD3,FXYD3,FXYD3,FXYD3 EXON Missense_G97S,Missense_G40S,Missense_G40S,Missense_G40S,Missense_G40S,Missense_G40S exm1455179 19 35613807 [A/G] NM_001136007,NM_001136008,NM_021910,NM_005971,NM_001136011,NM_001136012 FXYD3,FXYD3,FXYD3,FXYD3,FXYD3,FXYD3 EXON Silent,Missense_Q79R,Missense_Q79R,Silent,Silent,Missense_Q79R exm1455206 19 35616237 [T/G] NM_139284 LGI4 EXON Missense_Q492K exm1455213 19 35616348 [T/C] NM_139284 LGI4 EXON Missense_V455I exm1455214 19 35616353 [A/G] NM_139284 LGI4 EXON Missense_A453V exm1455219 19 35617187 [A/G] NM_139284 LGI4 EXON Missense_I429T exm1455223 19 35617293 [T/C] NM_139284 LGI4 EXON Missense_G394S exm1932815 19 35617784 [T/G] NM_139284 LGI4 EXON Missense_R256S exm1455248 19 35617920 [T/C] NM_139284 LGI4 EXON Synonymous_E210E exm1932818 19 35622361 [A/G] NM_139284 LGI4 EXON Missense_A186V exm1455250 19 35622362 [T/C] NM_139284 LGI4 EXON Missense_A186T exm1932819 19 35622368 [T/C] NM_139284 LGI4 EXON Missense_A184T exm1455251 19 35622414 [G/C] NM_139284 LGI4 EXON Missense_W168C exm1455268 19 35624994 [A/G] NM_139284 LGI4 EXON Missense_T62M exm1455271 19 35625443 [T/C] NM_139284 LGI4 EXON Missense_V48I exm1932830 19 35631020 [A/G] NM_021902,NM_005031 FXYD1,FXYD1 EXON Missense_G13S,Missense_G13S exm1455287 19 35631512 [A/G] NM_021902,NM_005031 FXYD1,FXYD1 EXON Missense_E25K,Missense_E25K exm1455298 19 35633635 [T/C] NM_021902,NM_005031 FXYD1,FXYD1 EXON Missense_R90C,Missense_R90C exm1455304 19 35639614 [G/C] NM_022006 FXYD7 EXON Missense_P17A exm1455315 19 35642367 [T/C] NM_022006 FXYD7 EXON Missense_A54V exm1455328 19 35648330 [T/C] NM_014164,NR_028406,NM_144779,NM_001164605 FXYD5,FXYD5,FXYD5,FXYD5 EXON Missense_T23M,Silent,Missense_T23M,Missense_T23M exm1455332 19 35648357 [T/C] NM_014164,NR_028406,NM_144779,NM_001164605 FXYD5,FXYD5,FXYD5,FXYD5 EXON Missense_S32L,Silent,Missense_S32L,Missense_S32L exm1455333 19 35648365 [T/G] NM_014164,NR_028406,NM_144779,NM_001164605 FXYD5,FXYD5,FXYD5,FXYD5 EXON Missense_S35A,Silent,Missense_S35A,Missense_S35A exm1455337 19 35648396 [A/G] NM_014164,NR_028406,NM_144779,NM_001164605 FXYD5,FXYD5,FXYD5,FXYD5 EXON Missense_R45Q,Silent,Missense_R45Q,Missense_R45Q exm1455345 19 35651654 [T/C] NM_014164,NR_028406,NM_144779,NM_001164605 FXYD5,FXYD5,FXYD5,FXYD5 EXON Missense_T81M,Silent,Missense_T81M,Missense_T81M exm1455347 19 35651684 [T/C] NM_014164,NR_028406,NM_144779,NM_001164605 FXYD5,FXYD5,FXYD5,FXYD5 EXON Missense_T91I,Silent,Missense_T91I,Missense_T91I exm1455352 19 35655115 [A/G] NM_014164,NR_028406,NM_144779,NM_001164605 FXYD5,FXYD5,FXYD5,FXYD5 EXON Missense_V117I,Silent,Missense_V117I,Missense_V117I exm1455354 19 35655143 [T/C] NM_014164,NR_028406,NM_144779,NM_001164605 FXYD5,FXYD5,FXYD5,FXYD5 EXON Missense_P126L,Silent,Missense_P126L,Missense_P126L exm1932869 19 35657189 [A/G] NM_014164,NR_028406,NM_144779,NM_001164605 FXYD5,FXYD5,FXYD5,FXYD5 EXON Missense_A150T,Silent,Missense_A150T,Missense_A150T exm1455371 19 35660508 [A/G] NM_014164,NR_028406,NM_144779,NM_001164605 FXYD5,FXYD5,FXYD5,FXYD5 EXON Missense_R176H,Silent,Missense_R176H,Missense_R176H exm1455388 19 35715930 [T/C] NM_152481 FAM187B EXON Missense_E303G exm1455398 19 35716066 [A/G] NM_152481 FAM187B EXON Missense_L258F exm1455404 19 35716104 [T/C] NM_152481 FAM187B EXON Nonsense_W245X exm1455407 19 35718863 [T/C] NM_152481 FAM187B EXON Missense_R241G exm1455409 19 35718891 [T/C] NM_152481 FAM187B EXON Nonsense_W231X exm1455412 19 35718938 [T/C] NM_152481 FAM187B EXON Missense_V216I exm1455413 19 35718954 [C/G] NM_152481 FAM187B EXON Missense_Q210H exm1455416 19 35719006 [T/C] NM_152481 FAM187B EXON Missense_R193Q exm1455418 19 35719013 [A/G] NM_152481 FAM187B EXON Missense_R191C exm1455420 19 35719020 [T/C] NM_152481 FAM187B EXON Nonsense_W188X exm1455421 19 35719036 [A/C] NM_152481 FAM187B EXON Missense_G183V exm1455423 19 35719076 [T/C] NM_152481 FAM187B EXON Missense_E170K exm1455424 19 35719088 [A/G] NM_152481 FAM187B EXON Missense_R166C exm1455425 19 35719106 [A/G] NM_152481 FAM187B EXON Missense_C160R exm1455430 19 35719232 [T/C] NM_152481 FAM187B EXON Missense_I118V exm1455433 19 35719315 [A/G] NM_152481 FAM187B EXON Missense_T90M exm1455436 19 35719363 [A/C] NM_152481 FAM187B EXON Missense_I74R exm1455440 19 35719438 [A/G] NM_152481 FAM187B EXON Missense_A49V exm1455441 19 35719487 [A/C] NM_152481 FAM187B EXON Missense_A33S exm1455442 19 35719490 [A/G] NM_152481 FAM187B EXON Nonsense_Q32X exm1455443 19 35719516 [T/C] NM_152481 FAM187B EXON Missense_S23N exm1455448 19 35719576 [T/G] NM_152481 FAM187B EXON Missense_P3H exm1455449 19 35719577 [A/G] NM_152481 FAM187B EXON Missense_P3S exm1455453 19 35739852 [A/G] NM_015925,NM_001260490,NM_205835,NM_001260489,NM_205834 LSR,LSR,LSR,LSR,LSR EXON Nonsense_W24X,Nonsense_W24X,Nonsense_W24X,Nonsense_W24X,Nonsense_W24X exm1455462 19 35739998 [T/G] NM_015925,NM_001260490,NM_205835,NM_001260489,NM_205834 LSR,LSR,LSR,LSR,LSR EXON Missense_V73F,Missense_V73F,Missense_V73F,Missense_V73F,Missense_V73F exm1455490 19 35752870 [T/C] NM_015925,NM_001260490,NM_205835,NM_001260489,NM_205834 LSR,LSR,LSR,LSR,LSR EXON Silent,Silent,Silent,Silent,Missense_A254V exm1455512 19 35757349 [T/C] NM_015925,NM_001260490,NM_205835,NM_001260489,NM_205834 LSR,LSR,LSR,LSR,LSR EXON Missense_P318L,Missense_P229L,Missense_P269L,Missense_P318L,Missense_P337L exm1455514 19 35757427 [A/G] NM_015925,NM_001260490,NM_205835,NM_001260489,NM_205834 LSR,LSR,LSR,LSR,LSR EXON Missense_S344N,Missense_S255N,Missense_S295N,Missense_S344N,Missense_S363N exm1455521 19 35757841 [G/C] NM_015925,NM_001260490,NM_205835,NM_001260489,NM_205834 LSR,LSR,LSR,LSR,LSR EXON Missense_P401R,Missense_P312R,Missense_P352R,Missense_P400R,Missense_P420R exm1455543 19 35758368 [T/C] NM_015925,NM_001260490,NM_205835,NM_001260489,NM_205834 LSR,LSR,LSR,LSR,LSR EXON Missense_P530S,Missense_P441S,Missense_P481S,Missense_P529S,Missense_P549S exm1455547 19 35758427 [A/C] NM_015925,NM_001260490,NM_205835,NM_001260489,NM_205834 LSR,LSR,LSR,LSR,LSR EXON Missense_H549Q,Missense_H460Q,Missense_H500Q,Missense_H548Q,Missense_H568Q exm1455548 19 35758440 [T/G] NM_015925,NM_001260490,NM_205835,NM_001260489,NM_205834 LSR,LSR,LSR,LSR,LSR EXON Missense_D554Y,Missense_D465Y,Missense_D505Y,Missense_D553Y,Missense_D573Y exm1455559 19 35758620 [A/G] NM_015925,NM_001260490,NM_205835,NM_001260489,NM_205834 LSR,LSR,LSR,LSR,LSR EXON Missense_E614K,Missense_E525K,Missense_E565K,Missense_E613K,Missense_E633K exm1455563 19 35758745 [G/C] NM_015925,NM_001260490,NM_205835,NM_001260489,NM_205834 LSR,LSR,LSR,LSR,LSR EXON Missense_E626Q,Missense_E537Q,Missense_E577Q,Missense_E625Q,Missense_E645Q exm1455628 19 35775693 [T/C] NM_021175 HAMP EXON Missense_T31M exm1455630 19 35775729 [T/C] NM_021175 HAMP EXON Missense_A43V exm1455635 19 35775902 [A/G] NM_021175 HAMP EXON Missense_G71D exm1455641 19 35786325 [T/C] NM_080600,NM_002361,NM_001199216 MAG,MAG,MAG EXON Missense_T5M,Missense_T5M,Silent exm1455644 19 35786522 [A/G] NM_080600,NM_002361,NM_001199216 MAG,MAG,MAG EXON Missense_R18Q,Missense_R18Q,Silent exm1455653 19 35786699 [A/G] NM_080600,NM_002361,NM_001199216 MAG,MAG,MAG EXON Missense_R77H,Missense_R77H,Missense_R52H exm2253778 19 35786715 [T/C] NM_080600,NM_002361,NM_001199216 MAG,MAG,MAG EXON Synonymous_H82H,Synonymous_H82H,Synonymous_H57H exm1455665 19 35786878 [A/G] NM_080600,NM_002361,NM_001199216 MAG,MAG,MAG EXON Missense_I137V,Missense_I137V,Missense_I112V exm1455667 19 35790493 [T/C] NM_080600,NM_002361,NM_001199216 MAG,MAG,MAG EXON Missense_A151V,Missense_A151V,Missense_A126V exm1455671 19 35790645 [A/C] NM_080600,NM_002361,NM_001199216 MAG,MAG,MAG EXON Missense_L202M,Missense_L202M,Missense_L177M exm1455686 19 35791275 [A/G] NM_080600,NM_002361,NM_001199216 MAG,MAG,MAG EXON Missense_Q313R,Missense_Q313R,Missense_Q288R exm1455696 19 35793483 [T/C] NM_080600,NM_002361,NM_001199216 MAG,MAG,MAG EXON Missense_T368M,Missense_T368M,Missense_T343M exm1455698 19 35793497 [A/C] NM_080600,NM_002361,NM_001199216 MAG,MAG,MAG EXON Missense_S373R,Missense_S373R,Missense_S348R exm1455707 19 35800819 [A/G] NM_080600,NM_002361,NM_001199216 MAG,MAG,MAG EXON Missense_R425Q,Missense_R425Q,Missense_R400Q exm1455710 19 35800842 [T/G] NM_080600,NM_002361,NM_001199216 MAG,MAG,MAG EXON Missense_V433L,Missense_V433L,Missense_V408L exm2253779 19 35800889 [A/G] NM_080600,NM_002361,NM_001199216 MAG,MAG,MAG EXON Synonymous_S448S,Synonymous_S448S,Synonymous_S423S exm1455723 19 35801539 [T/C] NM_080600,NM_002361,NM_001199216 MAG,MAG,MAG EXON Missense_R537C,Missense_R537C,Missense_R512C exm1455725 19 35802861 [A/C] NM_080600,NM_002361,NM_001199216 MAG,MAG,MAG EXON Missense_N553H,Missense_N553H,Missense_N528H exm1455727 19 35802870 [A/G] NM_080600,NM_002361,NM_001199216 MAG,MAG,MAG EXON Missense_V556I,Missense_V556I,Missense_V531I exm1455732 19 35803205 [T/G] NM_080600,NM_002361,NM_001199216 MAG,MAG,MAG EXON Nonsense_E580X,Silent,Silent exm1455742 19 35804275 [T/C] NM_080600,NM_002361,NM_001199216 MAG,MAG,MAG EXON Silent,Missense_S600L,Missense_S575L exm1455743 19 35804289 [T/C] NM_080600,NM_002361,NM_001199216 MAG,MAG,MAG EXON Silent,Missense_R605W,Missense_R580W exm1455769 19 35826971 [T/C] NM_001185099,NM_001185100,NM_001771,NM_001185101 CD22,CD22,CD22,CD22 EXON Missense_P149S,Missense_P149S,Missense_P149S,Missense_P149S exm1455778 19 35827226 [G/C] NM_001185099,NM_001185100,NM_001771,NM_001185101 CD22,CD22,CD22,CD22 EXON Missense_V234L,Missense_V234L,Missense_V234L,Missense_V234L exm1455779 19 35827244 [T/C] NM_001185099,NM_001185100,NM_001771,NM_001185101 CD22,CD22,CD22,CD22 EXON Missense_H240Y,Missense_H240Y,Missense_H240Y,Missense_H240Y exm1455791 19 35828831 [A/G] NM_001185099,NM_001185100,NM_001771,NM_001185101 CD22,CD22,CD22,CD22 EXON Missense_E298K,Missense_E298K,Missense_E298K,Silent exm1933042 19 35828903 [A/G] NM_001185099,NM_001185100,NM_001771,NM_001185101 CD22,CD22,CD22,CD22 EXON Missense_E322K,Missense_E322K,Missense_E322K,Silent exm1455810 19 35829256 [A/G] NM_001185099,NM_001185100,NM_001771,NM_001185101 CD22,CD22,CD22,CD22 EXON Silent,Missense_A391T,Missense_A391T,Silent exm1455817 19 35831826 [T/C] NM_001185099,NM_001185100,NM_001771,NM_001185101 CD22,CD22,CD22,CD22 EXON Missense_P343L,Missense_P431L,Missense_P431L,Missense_P254L exm1455820 19 35831892 [A/G] NM_001185099,NM_001185100,NM_001771,NM_001185101 CD22,CD22,CD22,CD22 EXON Missense_R365Q,Missense_R453Q,Missense_R453Q,Missense_R276Q exm1455834 19 35832389 [A/G] NM_001185099,NM_001185100,NM_001771,NM_001185101 CD22,CD22,CD22,CD22 EXON Missense_G463R,Missense_G551R,Missense_G551R,Missense_G374R exm1455835 19 35832491 [T/C] NM_001185099,NM_001185100,NM_001771,NM_001185101 CD22,CD22,CD22,CD22 EXON Missense_W497R,Missense_W585R,Missense_W585R,Missense_W408R exm1455837 19 35832622 [T/C] NM_001185099,NM_001185100,NM_001771,NM_001185101 CD22,CD22,CD22,CD22 EXON Missense_R509C,Missense_R597C,Missense_R597C,Missense_R420C exm1455850 19 35832703 [A/G] NM_001185099,NM_001185100,NM_001771,NM_001185101 CD22,CD22,CD22,CD22 EXON Missense_V536I,Missense_V624I,Missense_V624I,Missense_V447I exm1455852 19 35832823 [A/G] NM_001185099,NM_001185100,NM_001771,NM_001185101 CD22,CD22,CD22,CD22 EXON Missense_S576G,Missense_S664G,Missense_S664G,Missense_S487G exm1455853 19 35832839 [A/G] NM_001185099,NM_001185100,NM_001771,NM_001185101 CD22,CD22,CD22,CD22 EXON Missense_R581H,Missense_R669H,Missense_R669H,Missense_R492H exm1455859 19 35835785 [A/G] NM_001185099,NM_001185100,NM_001771,NM_001185101 CD22,CD22,CD22,CD22 EXON Missense_A609T,Missense_A697T,Missense_A697T,Missense_A520T exm1455868 19 35836511 [A/G] NM_001185099,NM_001185100,NM_001771,NM_001185101,NR_049828 CD22,CD22,CD22,CD22,MIR5196 EXON Missense_R651G,Silent,Missense_R739G,Missense_R562G,Silent exm1455869 19 35836530 [A/G] NM_001185099,NM_001185100,NM_001771,NM_001185101,NR_049828 CD22,CD22,CD22,CD22,MIR5196 EXON Missense_G657D,Silent,Missense_G745D,Missense_G568D,Silent exm1455877 19 35837096 [T/C] NM_001185099,NM_001185100,NM_001771,NM_001185101 CD22,CD22,CD22,CD22 EXON Synonymous_C702C,Nonsense_R751X,Synonymous_C790C,Synonymous_C613C exm1455878 19 35837104 [T/C] NM_001185099,NM_001185100,NM_001771,NM_001185101 CD22,CD22,CD22,CD22 EXON Missense_T705M,Silent,Missense_T793M,Missense_T616M exm1455888 19 35837484 [A/G] NM_001185099,NM_001185100,NM_001771,NM_001185101 CD22,CD22,CD22,CD22 EXON Missense_V722I,Silent,Missense_V810I,Missense_V633I exm1455920 19 35842830 [A/G] NM_005303 FFAR1 EXON Missense_V126M exm1455930 19 35842979 [A/C] NM_005303 FFAR1 EXON Missense_D175E exm1455933 19 35842996 [T/C] NM_005303 FFAR1 EXON Missense_P181L exm1455940 19 35843086 [A/G] NM_005303 FFAR1 EXON Missense_R211H exm1455945 19 35843191 [T/C] NM_005303 FFAR1 EXON Missense_A246V exm1455955 19 35843347 [A/C] NM_005303 FFAR1 EXON Missense_S298Y exm-rs10420543 19 35897918 [T/C] NR_040046 LOC100128682 EXON Silent exm1456074 19 35940752 [A/G] NM_005306 FFAR2 EXON Missense_I46V exm1456095 19 35941248 [T/A] NM_005306 FFAR2 EXON Missense_L211H exm1933130 19 35941266 [A/G] NM_005306 FFAR2 EXON Missense_R217Q exm1456099 19 35941277 [A/G] NM_005306 FFAR2 EXON Missense_V221M exm1456103 19 35941322 [A/G] NM_005306 FFAR2 EXON Missense_G236R exm1456106 19 35941334 [A/G] NM_005306 FFAR2 EXON Missense_V240M exm1456109 19 35941368 [A/G] NM_005306 FFAR2 EXON Missense_S251N exm1456114 19 35941518 [A/G] NM_005306 FFAR2 EXON Missense_R301H exm1456115 19 35941533 [C/G] NM_005306 FFAR2 EXON Missense_T306R exm1456119 19 35941592 [T/G] NM_005306 FFAR2 EXON Missense_D326Y exm1456133 19 35979386 [A/G] NM_207392,NM_001244847 KRTDAP,KRTDAP EXON Missense_A57V,Missense_A43V exm1456146 19 35989621 [T/C] NM_033317,NM_001035516,NM_001126059,NM_001190347,NM_001126056,NR_033746 DMKN,DMKN,DMKN,DMKN,DMKN,DMKN EXON Nonsense_W476X,Nonsense_W90X,Nonsense_W189X,Nonsense_W449X,Nonsense_W465X,Silent exm1456148 19 35989664 [A/G] NM_033317,NM_001035516,NM_001126059,NM_001190347,NM_001126056,NR_033746 DMKN,DMKN,DMKN,DMKN,DMKN,DMKN EXON Missense_A462V,Missense_A76V,Missense_A175V,Missense_A435V,Missense_A451V,Silent exm1933147 19 35989800 [G/C] NM_033317,NM_001035516,NM_001126059,NM_001190347,NM_001126056,NR_033746 DMKN,DMKN,DMKN,DMKN,DMKN,DMKN Silent,Silent,Silent,Silent,Silent,Silent exm1456161 19 35991442 [T/G] NM_033317,NM_001035516,NM_001126059,NM_001190347,NM_001126056,NR_033746 DMKN,DMKN,DMKN,DMKN,DMKN,DMKN EXON Missense_D427A,Missense_D41A,Missense_D140A,Missense_D386A,Missense_D416A,Silent exm1456162 19 35991445 [A/C] NM_033317,NM_001035516,NM_001126059,NM_001190347,NM_001126056,NR_033746 DMKN,DMKN,DMKN,DMKN,DMKN,DMKN EXON Missense_R426I,Missense_R40I,Missense_R139I,Missense_R385I,Missense_R415I,Silent exm2228967 19 35992792 [A/G] NM_033317,NM_001035516,NM_001126059,NM_001190347,NM_001126056,NR_033746 DMKN,DMKN,DMKN,DMKN,DMKN,DMKN EXON Silent,Missense_P5L,Silent,Silent,Silent,Silent exm1456190 19 35997077 [G/C] NM_033317,NM_001126059,NM_001190347,NM_001126056,NR_033746,NM_001190349,NM_001126057,NM_001126058,NM_001190348 DMKN,DMKN,DMKN,DMKN,DMKN,DMKN,DMKN,DMKN,DMKN EXON Silent,Silent,Missense_S289W,Missense_S319W,Silent,Silent,Silent,Silent,Missense_S380W exm1456239 19 36002423 [T/C] NM_033317,NM_001190347,NM_001126056,NM_001190349,NM_001126057,NM_001126058,NM_001190348 DMKN,DMKN,DMKN,DMKN,DMKN,DMKN,DMKN EXON Missense_G270S,Silent,Silent,Missense_G270S,Missense_G270S,Missense_G270S,Missense_G270S exm1456243 19 36002488 [A/C] NM_033317,NM_001190347,NM_001126056,NM_001190349,NM_001126057,NM_001126058,NM_001190348 DMKN,DMKN,DMKN,DMKN,DMKN,DMKN,DMKN EXON Missense_S248I,Silent,Silent,Missense_S248I,Missense_S248I,Missense_S248I,Missense_S248I exm1456248 19 36002711 [A/G] NM_033317,NM_001190347,NM_001126056,NM_001190349,NM_001126057,NM_001126058,NM_001190348 DMKN,DMKN,DMKN,DMKN,DMKN,DMKN,DMKN EXON Missense_T230M,Missense_T230M,Missense_T230M,Missense_T230M,Missense_T230M,Missense_T230M,Missense_T230M exm1456256 19 36003538 [C/G] NM_033317,NM_001190347,NM_001126056,NM_001190349,NM_001126057,NM_001126058,NM_001190348 DMKN,DMKN,DMKN,DMKN,DMKN,DMKN,DMKN EXON Missense_G194A,Missense_G194A,Missense_G194A,Missense_G194A,Missense_G194A,Missense_G194A,Missense_G194A exm1456264 19 36003591 [T/G] NM_033317,NM_001190347,NM_001126056,NM_001190349,NM_001126057,NM_001126058,NM_001190348 DMKN,DMKN,DMKN,DMKN,DMKN,DMKN,DMKN EXON Nonsense_Y176X,Nonsense_Y176X,Nonsense_Y176X,Nonsense_Y176X,Nonsense_Y176X,Nonsense_Y176X,Nonsense_Y176X exm1456275 19 36003962 [T/C] NM_033317,NM_001190347,NM_001126056,NM_001190349,NM_001126057,NM_001126058,NM_001190348 DMKN,DMKN,DMKN,DMKN,DMKN,DMKN,DMKN EXON Missense_N139S,Missense_N139S,Missense_N139S,Missense_N139S,Missense_N139S,Missense_N139S,Missense_N139S exm1456276 19 36003975 [A/C] NM_033317,NM_001190347,NM_001126056,NM_001190349,NM_001126057,NM_001126058,NM_001190348 DMKN,DMKN,DMKN,DMKN,DMKN,DMKN,DMKN EXON Missense_V135L,Missense_V135L,Missense_V135L,Missense_V135L,Missense_V135L,Missense_V135L,Missense_V135L exm1456280 19 36004009 [A/G] NM_033317,NM_001190347,NM_001126056,NM_001190349,NM_001126057,NM_001126058,NM_001190348 DMKN,DMKN,DMKN,DMKN,DMKN,DMKN,DMKN EXON Synonymous_H123H,Synonymous_H123H,Synonymous_H123H,Synonymous_H123H,Synonymous_H123H,Synonymous_H123H,Synonymous_H123H exm1456285 19 36004106 [A/G] NM_033317,NM_001190347,NM_001126056,NM_001190349,NM_001126057,NM_001126058,NM_001190348 DMKN,DMKN,DMKN,DMKN,DMKN,DMKN,DMKN EXON Missense_V91A,Missense_V91A,Missense_V91A,Missense_V91A,Missense_V91A,Missense_V91A,Missense_V91A exm1456289 19 36004171 [A/C] NM_033317,NM_001190347,NM_001126056,NM_001190349,NM_001126057,NM_001126058,NM_001190348 DMKN,DMKN,DMKN,DMKN,DMKN,DMKN,DMKN EXON Missense_E69D,Missense_E69D,Missense_E69D,Missense_E69D,Missense_E69D,Missense_E69D,Missense_E69D exm1456295 19 36004311 [T/G] NM_033317,NM_001190347,NM_001126056,NM_001190349,NM_001126057,NM_001126058,NM_001190348 DMKN,DMKN,DMKN,DMKN,DMKN,DMKN,DMKN EXON Missense_P23T,Missense_P23T,Missense_P23T,Missense_P23T,Missense_P23T,Missense_P23T,Missense_P23T exm1456304 19 36015624 [T/C] NM_198538,NM_001166034,NM_001166035 SBSN,SBSN,SBSN EXON Missense_A237T,Missense_A580T,Missense_A159T exm1456318 19 36017546 [A/G] NM_198538,NM_001166034,NM_001166035 SBSN,SBSN,SBSN EXON Synonymous_N203N,Synonymous_N546N,Silent exm1456321 19 36017598 [T/C] NM_198538,NM_001166034,NM_001166035 SBSN,SBSN,SBSN EXON Missense_N186S,Missense_N529S,Silent exm1456323 19 36017618 [A/C] NM_198538,NM_001166034,NM_001166035 SBSN,SBSN,SBSN EXON Missense_Q179H,Missense_Q522H,Silent exm1456327 19 36017710 [T/C] NM_198538,NM_001166034,NM_001166035 SBSN,SBSN,SBSN EXON Missense_E149K,Missense_E492K,Silent exm1456330 19 36017793 [T/C] NM_198538,NM_001166034,NM_001166035 SBSN,SBSN,SBSN EXON Silent,Missense_H464R,Silent exm1456338 19 36017928 [G/C] NM_198538,NM_001166034,NM_001166035 SBSN,SBSN,SBSN EXON Silent,Missense_A419G,Silent exm1456344 19 36018109 [T/C] NM_198538,NM_001166034,NM_001166035 SBSN,SBSN,SBSN EXON Silent,Missense_S359G,Silent exm1456380 19 36018742 [T/C] NM_198538,NM_001166034,NM_001166035 SBSN,SBSN,SBSN EXON Silent,Missense_E148K,Silent exm1456383 19 36018925 [T/C] NM_198538,NM_001166034,NM_001166035 SBSN,SBSN,SBSN EXON Missense_V87I,Missense_V87I,Missense_V87I exm1456385 19 36018948 [A/G] NM_198538,NM_001166034,NM_001166035 SBSN,SBSN,SBSN EXON Missense_T79I,Missense_T79I,Missense_T79I exm1456397 19 36019162 [T/C] NM_198538,NM_001166034,NM_001166035 SBSN,SBSN,SBSN EXON Missense_G8S,Missense_G8S,Missense_G8S exm1456405 19 36024434 [T/C] NM_014364 GAPDHS EXON Missense_S2L exm1456430 19 36029240 [T/G] NM_014364 GAPDHS EXON Missense_A93S exm2228977 19 36029291 [A/G] NM_014364 GAPDHS EXON Missense_D110N exm1456439 19 36033226 [A/C] NM_014364,NR_038396 GAPDHS,LOC100506469 EXON Missense_E152A,Silent exm1456447 19 36033311 [A/G] NM_014364,NR_038396 GAPDHS,LOC100506469 EXON Synonymous_S180S,Silent exm1456452 19 36033452 [A/G] NM_014364,NR_038396 GAPDHS,LOC100506469 EXON Missense_M201V,Silent exm1456462 19 36033899 [A/G] NM_014364,NR_038396 GAPDHS,LOC100506469 EXON Missense_E238K,Silent exm1456463 19 36033902 [T/C] NM_014364,NR_038396 GAPDHS,LOC100506469 EXON Nonsense_R239X,Silent exm1456464 19 36033914 [A/G] NM_014364,NR_038396 GAPDHS,LOC100506469 EXON Missense_V243M,Silent exm1933232 19 36034345 [T/C] NM_014364,NR_038396 GAPDHS,LOC100506469 EXON Missense_S282F,Silent exm1456478 19 36034632 [A/G] NM_014364,NR_038396 GAPDHS,LOC100506469 EXON Missense_R320H,Silent exm1456489 19 36036001 [T/C] NM_014364,NR_038396 GAPDHS,LOC100506469 EXON Missense_Y386H,Silent exm1456521 19 36038139 [T/G] NM_032635,NM_001242598,NM_001242597 TMEM147,TMEM147,TMEM147 EXON Missense_M183R,Missense_M109R,Missense_M134R exm1456526 19 36038260 [A/G] NM_032635,NM_001242598,NM_001242597 TMEM147,TMEM147,TMEM147 EXON Missense_A196T,Missense_A122T,Missense_A147T exm1456544 19 36041912 [T/C] NM_000704 ATP4A EXON Missense_R996Q exm2253783 19 36041971 [A/G] NM_000704 ATP4A EXON Synonymous_I976I exm1456549 19 36041988 [T/C] NM_000704 ATP4A EXON Missense_V971M exm1456563 19 36044007 [T/C] NM_000704 ATP4A EXON Missense_V895M exm1456573 19 36044658 [T/C] NM_000704 ATP4A EXON Missense_R852H exm1456602 19 36046460 [T/A] NM_000704 ATP4A EXON Missense_Q680L exm1456605 19 36046582 [A/G] NM_000704 ATP4A EXON Missense_R668C exm1456626 19 36048661 [T/C] NM_000704 ATP4A EXON Missense_S530N exm1456640 19 36049278 [T/G] NM_000704 ATP4A EXON Missense_T496P exm1933294 19 36049303 [T/A] NM_000704 ATP4A EXON Missense_K487N exm1456646 19 36049924 [T/C] NM_000704 ATP4A EXON Missense_H409R exm1456657 19 36050783 [G/C] NM_000704 ATP4A EXON Missense_T327S exm1456668 19 36050915 [A/G] NM_000704 ATP4A EXON Missense_S283L exm1933304 19 36050925 [A/G] NM_000704 ATP4A EXON Missense_R280C exm1456674 19 36050969 [A/G] NM_000704 ATP4A EXON Missense_V265A exm1456681 19 36051333 [T/G] NM_000704 ATP4A EXON Missense_P240H exm1456686 19 36051408 [T/C] NM_000704 ATP4A EXON Missense_R215H exm1456689 19 36051454 [T/C] NM_000704 ATP4A EXON Missense_D200N exm1456690 19 36051470 [T/G] NM_000704 ATP4A EXON Missense_D194E exm1933315 19 36051747 [A/C] NM_000704 ATP4A EXON Missense_A170S exm1456715 19 36054148 [A/G] NM_000704 ATP4A EXON Missense_A60V exm1456718 19 36054287 [A/G] NM_000704 ATP4A EXON Missense_I52T exm1456733 19 36104777 [A/G] NM_015302 HAUS5 EXON Missense_K57E exm1933335 19 36104942 [A/G] NM_015302 HAUS5 EXON Missense_G67D exm1933337 19 36105948 [A/G] NM_015302 HAUS5 EXON Missense_R75H exm1456740 19 36105975 [T/C] NM_015302 HAUS5 EXON Missense_V84A exm1456741 19 36105986 [T/C] NM_015302 HAUS5 EXON Missense_R88W exm1456743 19 36106023 [T/G] NM_015302 HAUS5 EXON Missense_L100R exm1456749 19 36106210 [T/C] NM_015302 HAUS5 EXON Missense_M136T exm1456754 19 36106248 [T/C] NM_015302 HAUS5 EXON Missense_R149W exm1456755 19 36106269 [T/C] NM_015302 HAUS5 EXON Missense_R156C exm1456765 19 36108190 [A/G] NM_015302 HAUS5 EXON Missense_R186H exm2228981 19 36108271 [T/C] NM_015302 HAUS5 EXON Missense_P213L exm1456775 19 36109003 [A/G] NM_015302 HAUS5 EXON Missense_V243I exm1456779 19 36109312 [A/C] NM_015302 HAUS5 EXON Missense_A277D exm1456781 19 36109350 [A/G] NM_015302 HAUS5 EXON Missense_M290V exm1456784 19 36109561 [A/G] NM_015302 HAUS5 EXON Missense_V326M exm1456786 19 36109579 [T/C] NM_015302 HAUS5 EXON Missense_R332C exm1456787 19 36109580 [A/G] NM_015302 HAUS5 EXON Missense_R332H exm1456801 19 36110383 [T/C] NM_015302 HAUS5 EXON Missense_R413C exm1456804 19 36110587 [T/C] NM_015302 HAUS5 EXON Missense_R445C exm1456819 19 36111168 [A/C] NM_015302 HAUS5 EXON Missense_S530R exm1456828 19 36113545 [A/G] NM_015302 HAUS5 EXON Missense_E565G exm1456829 19 36113590 [A/G] NM_015302 HAUS5 EXON Missense_Q580R exm1456830 19 36113595 [G/C] NM_015302 HAUS5 EXON Missense_L582V exm1456847 19 36123862 [T/G] NM_024321 RBM42 EXON Missense_I156S exm1456862 19 36124668 [T/C] NM_024321 RBM42 EXON Missense_A255V exm1456890 19 36133528 [T/G] NM_014209 ETV2 EXON Missense_L28V exm1456893 19 36133577 [G/C] NM_014209 ETV2 EXON Missense_A44G exm1456897 19 36134208 [A/G] NM_014209 ETV2 EXON Missense_D90N exm1456905 19 36134454 [T/G] NM_014209 ETV2 EXON Missense_G172W exm1456913 19 36134616 [T/C] NM_014209 ETV2 EXON Missense_R226C exm1456922 19 36135663 [G/C] NM_014209 ETV2 EXON Missense_G313A exm1456937 19 36149535 [T/C] NM_001863 COX6B1 EXON Missense_P83S exm1456940 19 36157725 [T/C] NM_007000 UPK1A EXON Missense_A4V exm1456941 19 36157740 [T/C] NM_007000 UPK1A EXON Missense_A9V exm1456951 19 36159482 [A/G] NM_007000,NR_046420 UPK1A,UPK1A-AS1 EXON Missense_G71S,Silent exm1456953 19 36159524 [A/G] NM_007000,NR_046420 UPK1A,UPK1A-AS1 EXON Missense_A85T,Silent exm1456954 19 36159533 [T/C] NM_007000,NR_046420 UPK1A,UPK1A-AS1 EXON Missense_R88C,Silent exm1456962 19 36164140 [G/C] NM_007000,NR_046420 UPK1A,UPK1A-AS1 EXON Missense_V98L,Silent exm1456978 19 36166877 [A/G] NM_007000 UPK1A EXON Missense_E202K exm1456982 19 36168732 [A/G] NM_007000 UPK1A EXON Missense_G223S exm1456984 19 36168738 [A/G] NM_007000 UPK1A EXON Missense_A225T exm1456993 19 36168894 [A/G] NM_007000 UPK1A EXON Missense_I250M exm1456994 19 36168914 [T/C] NM_007000 UPK1A EXON Missense_M257T exm1457012 19 36206050 [A/C] NM_014383 ZBTB32 EXON Missense_R174S exm1457014 19 36206111 [T/C] NM_014383 ZBTB32 EXON Missense_R195C exm1457017 19 36206203 [A/T] NM_014383 ZBTB32 EXON Missense_S225R exm1457038 19 36207077 [A/G] NM_014383 ZBTB32 EXON Missense_C356Y exm1457043 19 36207437 [T/C] NM_014383 ZBTB32 EXON Missense_M416T exm1457058 19 36207649 [A/C] NM_014383 ZBTB32 EXON Missense_T487P exm1457064 19 36210703 [T/C] NM_014727 MLL4 EXON Missense_R152W exm1457066 19 36210722 [T/C] NM_014727 MLL4 EXON Missense_T158M exm1457068 19 36210764 [T/C] NM_014727 MLL4 EXON Missense_T172I exm1457089 19 36211118 [A/G] NM_014727 MLL4 EXON Missense_R290H exm1457090 19 36211133 [A/G] NM_014727 MLL4 EXON Missense_R295H exm1457096 19 36211277 [A/G] NM_014727 MLL4 EXON Missense_R343K exm1457097 19 36211292 [A/C] NM_014727 MLL4 EXON Missense_Q348P exm1457100 19 36211345 [A/G] NM_014727 MLL4 EXON Missense_E366K exm1457108 19 36211418 [T/C] NM_014727 MLL4 EXON Missense_M390T exm1457121 19 36211742 [A/C] NM_014727 MLL4 EXON Missense_T498N exm1457130 19 36212009 [G/C] NM_014727 MLL4 EXON Missense_P587R exm1457145 19 36212432 [A/G] NM_014727 MLL4 EXON Missense_S728N exm1457149 19 36212510 [T/C] NM_014727 MLL4 EXON Missense_P754L exm1457161 19 36213292 [A/C] NM_014727 MLL4 EXON Missense_A830D exm1457163 19 36213300 [A/G] NM_014727 MLL4 EXON Missense_V833I exm1457165 19 36213367 [A/G] NM_014727 MLL4 EXON Missense_R855Q exm1457171 19 36213594 [A/G] NM_014727 MLL4 EXON Missense_R899Q exm2253787 19 36214850 [A/G] NM_014727 MLL4 EXON Synonymous_S1092S exm1457206 19 36214891 [A/G] NM_014727 MLL4 EXON Missense_R1106Q exm1457209 19 36215582 [C/G] NM_014727 MLL4 EXON Missense_P1127A exm1457266 19 36219903 [C/G] NM_014727 MLL4 EXON Missense_P1569A exm1457297 19 36222872 [A/G] NM_014727 MLL4 EXON Missense_R1834H exm1457304 19 36222962 [A/G] NM_014727 MLL4 EXON Missense_R1864Q exm1933591 19 36223242 [A/C] NM_014727 MLL4 EXON Missense_P1931H exm1457317 19 36223347 [T/C] NM_014727 MLL4 EXON Missense_S1966F exm1457366 19 36224408 [A/G] NM_014727 MLL4 EXON Missense_G2320R exm1457372 19 36224705 [A/G] NM_014727 MLL4 EXON Missense_D2364G exm2228991 19 36227612 [A/C] NM_014727 MLL4 EXON Missense_E2394A exm1457385 19 36228119 [T/C] NM_014727 MLL4 EXON Missense_P2502L exm1457403 19 36230240 [A/G] NM_024660 IGFLR1 EXON Missense_R337W exm2276630 19 36230247 [G/C] NM_024660 IGFLR1 EXON Missense_Q334H exm1457410 19 36230378 [T/G] NM_024660 IGFLR1 EXON Missense_L291M exm1933628 19 36230401 [T/C] NM_024660 IGFLR1 EXON Missense_R283Q exm1457412 19 36230423 [A/C] NM_024660 IGFLR1 EXON Missense_G276C exm1457425 19 36230677 [A/G] NM_024660 IGFLR1 EXON Missense_S219P exm1457426 19 36230740 [A/G] NM_024660 IGFLR1 EXON Missense_P198S exm1457428 19 36230767 [A/G] NM_024660 IGFLR1 EXON Missense_W189R exm2253788 19 36230870 [A/G] NM_024660 IGFLR1 EXON Synonymous_P154P exm1457438 19 36230953 [G/C] NM_024660 IGFLR1 EXON Missense_P127A exm1457440 19 36230962 [A/G] NM_024660 IGFLR1 EXON Missense_P124S exm1457444 19 36231288 [T/C] NM_024660 IGFLR1 EXON Missense_C112Y exm1457446 19 36231343 [T/C] NM_024660 IGFLR1 EXON Missense_G94S exm1457450 19 36231381 [A/C] NM_024660 IGFLR1 EXON Missense_C81F exm1457453 19 36231442 [T/C] NM_024660 IGFLR1 EXON Missense_G61R exm1457456 19 36231465 [T/C] NM_024660 IGFLR1 EXON Missense_D53G exm1457459 19 36232024 [A/G] NM_024660 IGFLR1 EXON Missense_P20S exm1457461 19 36232056 [A/G] NM_024660 IGFLR1 EXON Missense_T9M exm1457467 19 36233515 [A/G] NM_144987,NM_001040425 U2AF1L4,U2AF1L4 EXON Missense_P198L,Silent exm1457470 19 36233549 [A/G] NM_144987,NM_001040425 U2AF1L4,U2AF1L4 EXON Missense_P187S,Silent exm1457473 19 36233623 [A/G] NM_144987,NM_001040425 U2AF1L4,U2AF1L4 EXON Missense_S162F,Synonymous_F181F exm1457483 19 36234727 [A/C] NM_144987,NM_001040425 U2AF1L4,U2AF1L4 EXON Missense_G129V,Synonymous_G148G exm1457485 19 36234772 [A/C] NM_144987,NM_001040425 U2AF1L4,U2AF1L4 EXON Missense_C114F,Missense_M133I exm1457489 19 36234961 [G/C] NM_144987,NM_001040425 U2AF1L4,U2AF1L4 EXON Silent,Missense_S106C exm1457494 19 36235260 [G/C] NM_144987,NM_001040425 U2AF1L4,U2AF1L4 EXON Missense_N65K,Missense_N65K exm1457495 19 36235265 [T/C] NM_144987,NM_001040425 U2AF1L4,U2AF1L4 EXON Missense_D64N,Missense_D64N exm1457519 19 36243089 [T/C] NM_019104 LIN37 EXON Missense_V16A exm1457520 19 36243111 [T/G] NM_019104 LIN37 EXON Missense_D23E exm1457539 19 36244099 [A/G] NM_019104 LIN37 EXON Missense_R130H exm1457540 19 36244105 [A/G] NM_019104 LIN37 EXON Missense_R132H exm1457543 19 36244951 [A/G] NM_019104 LIN37 EXON Missense_V160M exm1457544 19 36244987 [T/C] NM_019104 LIN37 EXON Missense_P172S exm1457548 19 36245187 [A/G] NM_019104 LIN37 EXON Missense_R209H exm1457552 19 36245367 [T/C] NM_019104 LIN37 EXON Nonsense_R245X exm1933689 19 36246554 [A/G] NM_144617 HSPB6 EXON Missense_H118Y exm1457561 19 36246714 [T/C] NM_144617 HSPB6 EXON Missense_G94S exm1457562 19 36246719 [A/G] NM_144617 HSPB6 EXON Missense_V92A exm1457569 19 36247881 [A/G] NM_144617 HSPB6 EXON Missense_S10F exm2268191 19 36249521 [A/G] NM_001039887 C19orf55 Silent exm1457576 19 36250780 [A/G] NM_001039887 C19orf55 EXON Missense_E67K exm1457608 19 36256009 [A/G] NM_001039887 C19orf55 EXON Missense_D234G exm1457609 19 36256027 [T/C] NM_001039887 C19orf55 EXON Missense_S240L exm1457620 19 36257805 [G/C] NM_001039887 C19orf55 EXON Missense_S302R exm1457623 19 36258721 [T/C] NM_001039887 C19orf55 EXON Missense_A325V exm1457646 19 36259116 [A/G] NM_001039887 C19orf55 EXON Missense_A427T exm1457650 19 36259415 [A/G] NM_001039887 C19orf55 EXON Missense_E471K exm1457731 19 36275078 [A/G] NM_001172630,NM_052948 ARHGAP33,ARHGAP33 EXON Missense_M340V,Missense_M476V exm1457738 19 36275163 [T/C] NM_001172630,NM_052948 ARHGAP33,ARHGAP33 EXON Missense_T368I,Missense_T504I exm1457764 19 36277809 [A/G] NM_001172630,NM_052948 ARHGAP33,ARHGAP33 EXON Missense_A677T,Missense_A652T exm1457772 19 36277957 [A/G] NM_001172630,NM_052948 ARHGAP33,ARHGAP33 EXON Missense_G726E,Missense_G701E exm1457774 19 36278111 [A/C] NM_001172630,NM_052948 ARHGAP33,ARHGAP33 EXON Missense_L746I,Missense_L721I exm1457802 19 36278627 [T/C] NM_001172630,NM_052948 ARHGAP33,ARHGAP33 EXON Missense_P890S,Missense_P893S exm1457806 19 36278766 [T/C] NM_001172630,NM_052948 ARHGAP33,ARHGAP33 EXON Missense_P936L,Missense_P939L exm1457808 19 36278802 [T/C] NM_001172630,NM_052948 ARHGAP33,ARHGAP33 EXON Missense_P948L,Missense_P951L exm1457809 19 36278825 [A/G] NM_001172630,NM_052948 ARHGAP33,ARHGAP33 EXON Missense_G956S,Missense_G959S exm1457815 19 36278943 [T/C] NM_001172630,NM_052948 ARHGAP33,ARHGAP33 EXON Missense_A995V,Missense_A998V exm1457816 19 36278945 [T/C] NM_001172630,NM_052948 ARHGAP33,ARHGAP33 EXON Missense_R996W,Missense_R999W exm1457829 19 36279199 [T/G] NM_001172630,NM_052948 ARHGAP33,ARHGAP33 EXON Missense_R1080S,Missense_R1083S exm1457837 19 36290977 [T/C] NM_021232 PRODH2 EXON Missense_R525Q exm2253790 19 36290984 [A/G] NM_021232 PRODH2 EXON Synonymous_L523L exm2229003 19 36291035 [A/G] NM_021232 PRODH2 EXON Missense_R506W exm1457858 19 36293927 [A/G] NM_021232 PRODH2 EXON Missense_M428T exm1457864 19 36297395 [A/G] NM_021232 PRODH2 EXON Missense_A389V exm1457882 19 36297671 [A/G] NM_021232 PRODH2 EXON Missense_A323V exm2229004 19 36297702 [C/G] NM_021232 PRODH2 EXON Missense_V313L exm1457885 19 36297725 [T/C] NM_021232 PRODH2 EXON Missense_R305Q exm1457895 19 36302863 [A/C] NM_021232 PRODH2 Silent exm1457896 19 36302871 [G/C] NM_021232 PRODH2 EXON Missense_S273C exm1457906 19 36303323 [T/G] NM_021232 PRODH2 EXON Missense_S180R exm1457907 19 36303331 [T/C] NM_021232 PRODH2 EXON Missense_R177Q exm1457924 19 36303664 [C/G] NM_021232 PRODH2 EXON Missense_P91R exm1457928 19 36303736 [A/G] NM_021232 PRODH2 EXON Missense_P67L exm1457929 19 36303740 [T/G] NM_021232 PRODH2 EXON Missense_L66I exm1457933 19 36304080 [A/G] NM_021232 PRODH2 EXON Missense_A35V exm1457935 19 36304113 [T/G] NM_021232 PRODH2 EXON Missense_T24N exm2253791 19 36317455 [A/G] NM_004646 NPHS1 EXON Synonymous_P1229P exm2253792 19 36317515 [T/C] NM_004646 NPHS1 EXON Synonymous_T1209T exm1457945 19 36317515 [T/C] NM_004646 NPHS1 EXON Synonymous_T1209T exm1457947 19 36317544 [A/G] NM_004646 NPHS1 EXON Missense_P1200S exm1457949 19 36321778 [T/C] NM_004646 NPHS1 EXON Missense_A1188T exm1457950 19 36321795 [A/G] NM_004646 NPHS1 EXON Missense_T1182M exm1457952 19 36321820 [A/G] NM_004646 NPHS1 EXON Missense_H1174Y exm1457956 19 36321954 [A/C] NM_004646 NPHS1 Silent exm1457960 19 36321994 [A/G] NM_004646 NPHS1 EXON Nonsense_Q1148X exm1457963 19 36322260 [A/G] NM_004646 NPHS1 EXON Nonsense_R1109X exm1457978 19 36326622 [T/C] NM_004646 NPHS1 EXON Missense_T1051A exm1457993 19 36330277 [C/G] NM_004646 NPHS1 EXON Missense_V991L exm1457995 19 36330320 [A/C] NM_004646 NPHS1 EXON Missense_R976S exm2276631 19 36330456 [C/G] NM_004646 NPHS1 EXON Missense_V957L exm1458009 19 36333098 [T/C] NM_004646 NPHS1 EXON Missense_R864H exm1458011 19 36333146 [T/G] NM_004646 NPHS1 EXON Missense_K848T exm1458020 19 36333308 [A/G] NM_004646 NPHS1 EXON Nonsense_R827X exm1458027 19 36333453 [T/C] NM_004646 NPHS1 Silent exm1458049 19 36336581 [T/C] NM_004646 NPHS1 EXON Missense_E583K exm1458077 19 36339247 [T/C] NM_004646 NPHS1 EXON Missense_R408Q exm2277157 19 36339250 [T/C] NM_004646 NPHS1 EXON Missense_R407Q exm2229012 19 36339287 [T/C] NM_004646 NPHS1 EXON Missense_G395S exm1458081 19 36339295 [A/G] NM_004646 NPHS1 EXON Missense_L392P exm1458084 19 36339558 [A/G] NM_004646 NPHS1 EXON Missense_M384T exm1458095 19 36340003 [A/G] NM_004646 NPHS1 EXON Missense_A296V exm1458096 19 36340009 [A/G] NM_004646 NPHS1 EXON Missense_T294I exm1458106 19 36340467 [T/C] NM_004646 NPHS1 EXON Missense_T233A exm1458113 19 36341311 [T/A] NM_004646 NPHS1 EXON Missense_N188I exm1458114 19 36341315 [T/C] NM_004646 NPHS1 EXON Missense_V187M exm1458136 19 36342505 [A/G] NM_004646 NPHS1 EXON Missense_V43A exm1933898 19 36342568 [A/G] NM_004646 NPHS1 EXON Missense_A22V exm1458143 19 36342697 [G/C] NM_004646 NPHS1 EXON Missense_G15R exm1458153 19 36348078 [A/C] NM_199180,NM_199179,NM_032123 KIRREL2,KIRREL2,KIRREL2 EXON Missense_R19S,Missense_R19S,Missense_R19S exm1458155 19 36348297 [T/G] NM_199180,NM_199179,NM_032123 KIRREL2,KIRREL2,KIRREL2 EXON Missense_G38W,Silent,Missense_G38W exm1458162 19 36349319 [G/C] NM_199180,NM_199179,NM_032123 KIRREL2,KIRREL2,KIRREL2 EXON Missense_R74P,Missense_R24P,Missense_R74P exm1458163 19 36349333 [A/G] NM_199180,NM_199179,NM_032123 KIRREL2,KIRREL2,KIRREL2 EXON Missense_G79R,Missense_G29R,Missense_G79R exm1458166 19 36349405 [A/T] NM_199180,NM_199179,NM_032123 KIRREL2,KIRREL2,KIRREL2 EXON Missense_C103S,Missense_C53S,Missense_C103S exm1458167 19 36349429 [T/C] NM_199180,NM_199179,NM_032123 KIRREL2,KIRREL2,KIRREL2 EXON Missense_R111C,Missense_R61C,Missense_R111C exm1458175 19 36349752 [A/G] NM_199180,NM_199179,NM_032123 KIRREL2,KIRREL2,KIRREL2 EXON Missense_A170T,Missense_A120T,Missense_A170T exm1458179 19 36350474 [A/G] NM_199180,NM_199179,NM_032123 KIRREL2,KIRREL2,KIRREL2 EXON Missense_R205Q,Missense_R155Q,Missense_R205Q exm1458198 19 36351545 [A/C] NM_199180,NM_199179,NM_032123 KIRREL2,KIRREL2,KIRREL2 EXON Missense_R302S,Missense_R252S,Missense_R302S exm1458208 19 36352024 [A/G] NM_199180,NM_199179,NM_032123 KIRREL2,KIRREL2,KIRREL2 EXON Missense_V353M,Missense_V303M,Missense_V353M exm1933934 19 36352500 [A/G] NM_199180,NM_199179,NM_032123 KIRREL2,KIRREL2,KIRREL2 EXON Missense_R416H,Missense_R366H,Missense_R416H exm1458222 19 36352906 [A/G] NM_199180,NM_199179,NM_032123 KIRREL2,KIRREL2,KIRREL2 EXON Missense_Q497R,Missense_Q447R,Missense_Q497R exm1458233 19 36353880 [A/G] NM_199180,NM_199179,NM_032123 KIRREL2,KIRREL2,KIRREL2 EXON Missense_S556N,Missense_S506N,Missense_S556N exm1458235 19 36353928 [A/G] NM_199180,NM_199179,NM_032123 KIRREL2,KIRREL2,KIRREL2 EXON Missense_R572H,Missense_R522H,Missense_R572H exm1458236 19 36355562 [T/C] NM_199180,NM_199179,NM_032123 KIRREL2,KIRREL2,KIRREL2 EXON Missense_H580Y,Missense_H530Y,Missense_H580Y exm1458238 19 36355595 [A/G] NM_199180,NM_199179,NM_032123 KIRREL2,KIRREL2,KIRREL2 EXON Missense_K591E,Missense_K541E,Missense_K591E exm1933960 19 36357242 [T/G] NM_199180,NM_199179,NM_032123 KIRREL2,KIRREL2,KIRREL2 EXON Missense_A659S,Silent,Silent exm1458249 19 36357406 [T/C] NM_199180,NM_199179,NM_032123 KIRREL2,KIRREL2,KIRREL2 EXON Silent,Missense_W574R,Missense_W624R exm1458251 19 36357408 [A/G] NM_199180,NM_199179,NM_032123 KIRREL2,KIRREL2,KIRREL2 EXON Silent,Nonsense_W574X,Nonsense_W624X exm1458258 19 36360639 [T/G] NM_001024807,NM_005166 APLP1,APLP1 EXON Missense_R73L,Missense_R73L exm1458266 19 36361822 [C/G] NM_001024807,NM_005166 APLP1,APLP1 EXON Missense_R106G,Missense_R106G exm1458272 19 36362160 [A/C] NM_001024807,NM_005166 APLP1,APLP1 EXON Missense_A149D,Missense_A149D exm1458278 19 36362619 [A/T] NM_001024807,NM_005166 APLP1,APLP1 EXON Missense_T215S,Missense_T215S exm1458280 19 36362632 [A/C] NM_001024807,NM_005166 APLP1,APLP1 EXON Missense_S219Y,Missense_S219Y exm1458283 19 36362761 [T/G] NM_001024807,NM_005166 APLP1,APLP1 EXON Missense_D225Y,Missense_D225Y exm1458306 19 36365446 [C/G] NM_001024807,NM_005166 APLP1,APLP1 EXON Missense_S366C,Missense_S366C exm1458315 19 36365667 [T/C] NM_001024807,NM_005166 APLP1,APLP1 EXON Missense_R414W,Missense_R414W exm1458342 19 36369985 [A/G] NM_001024807,NM_005166 APLP1,APLP1 EXON Missense_G575R,Missense_G574R exm1458391 19 36387656 [T/C] NM_139239 NFKBID EXON Missense_R77H exm1458397 19 36387881 [A/G] NM_139239 NFKBID EXON Missense_V29A exm2253793 19 36394678 [T/C] NM_001007469,NM_014266 HCST,HCST EXON Synonymous_S38S,Synonymous_S38S exm1458415 19 36394688 [T/C] NM_001007469,NM_014266 HCST,HCST EXON Missense_C42R,Missense_C42R exm1458419 19 36394746 [C/G] NM_001007469,NM_014266 HCST,HCST EXON Missense_S61W,Missense_S61W exm1458423 19 36394805 [A/G] NM_001007469,NM_014266 HCST,HCST EXON Missense_D81N,Missense_E81K exm1458436 19 36398158 [A/G] NM_003332,NM_198125,NM_001173515,NM_001173514,NR_033390 TYROBP,TYROBP,TYROBP,TYROBP,TYROBP EXON Missense_R80W,Missense_R79W,Missense_R68W,Missense_R69W,Silent exm1458437 19 36398163 [A/G] NM_003332,NM_198125,NM_001173515,NM_001173514,NR_033390 TYROBP,TYROBP,TYROBP,TYROBP,TYROBP EXON Missense_A78V,Missense_A77V,Missense_A66V,Missense_A67V,Silent exm1458443 19 36398414 [A/C] NM_003332,NM_198125,NM_001173515,NM_001173514,NR_033390 TYROBP,TYROBP,TYROBP,TYROBP,TYROBP EXON Missense_V55L,Missense_V55L,Missense_V44L,Missense_V44L,Silent exm1458445 19 36398453 [T/C] NM_003332,NM_198125,NM_001173515,NM_001173514,NR_033390 TYROBP,TYROBP,TYROBP,TYROBP,TYROBP EXON Missense_V42M,Missense_V42M,Missense_V31M,Missense_V31M,Silent exm1458448 19 36398481 [T/A] NM_003332,NM_198125,NM_001173515,NM_001173514,NR_033390 TYROBP,TYROBP,TYROBP,TYROBP,TYROBP EXON Missense_D32E,Missense_D32E,Missense_D21E,Missense_D21E,Silent exm1458451 19 36398633 [A/G] NM_003332,NM_198125,NM_001173515,NM_001173514,NR_033390 TYROBP,TYROBP,TYROBP,TYROBP,TYROBP EXON Synonymous_S31S,Synonymous_S31S,Silent,Silent,Silent exm1458452 19 36398658 [T/C] NM_003332,NM_198125,NM_001173515,NM_001173514,NR_033390 TYROBP,TYROBP,TYROBP,TYROBP,TYROBP EXON Missense_R23H,Missense_R23H,Silent,Silent,Silent exm1458456 19 36399126 [T/C] NM_003332,NM_198125,NM_001173515,NM_001173514,NR_033390 TYROBP,TYROBP,TYROBP,TYROBP,TYROBP EXON Missense_G2E,Missense_G2E,Missense_G2E,Missense_G2E,Silent exm2268228 19 36426667 [A/G] exm1458464 19 36430380 [T/C] NM_024509 LRFN3 EXON Missense_S18F exm1934048 19 36430613 [T/C] NM_024509 LRFN3 EXON Missense_R96C exm1458517 19 36431525 [T/C] NM_024509 LRFN3 EXON Missense_P400S exm1458536 19 36435631 [T/C] NM_024509 LRFN3 EXON Missense_P533S exm1458539 19 36435679 [T/G] NM_024509 LRFN3 EXON Missense_A549S exm1458560 19 36494297 [T/C] NM_001039876 SYNE4 EXON Missense_R386Q exm1458565 19 36494352 [T/C] NM_001039876 SYNE4 EXON Missense_V368M exm2277158 19 36494376 [T/G] NM_001039876 SYNE4 EXON Missense_L360I exm1458568 19 36494424 [T/A] NM_001039876 SYNE4 Silent exm1458573 19 36496245 [T/C] NM_001039876 SYNE4 EXON Missense_R321Q exm1458587 19 36497428 [A/G] NM_001039876 SYNE4 EXON Missense_I255T exm1458591 19 36497521 [A/G] NM_001039876 SYNE4 EXON Missense_S224L exm1458597 19 36497729 [A/G] NM_001039876 SYNE4 EXON Missense_R181W exm1458598 19 36497747 [G/C] NM_001039876 SYNE4 EXON Missense_A175P exm1458608 19 36498133 [T/G] NM_001039876 SYNE4 EXON Missense_Q106P exm1458612 19 36499121 [T/C] NM_001039876 SYNE4 EXON Missense_E93K exm1458613 19 36499141 [A/G] NM_001039876 SYNE4 EXON Missense_P86L exm1458639 19 36501476 [T/G] NM_032878,NM_198867 ALKBH6,ALKBH6 EXON Missense_T177K,Silent exm1458640 19 36501480 [C/G] NM_032878,NM_198867 ALKBH6,ALKBH6 EXON Missense_P176A,Silent exm1458641 19 36501482 [T/A] NM_032878,NM_198867 ALKBH6,ALKBH6 EXON Missense_D175V,Missense_X162C exm1458643 19 36501509 [T/C] NM_032878,NM_198867 ALKBH6,ALKBH6 EXON Missense_Y166C,Synonymous_L153L exm1934127 19 36501579 [T/C] NM_032878,NM_198867 ALKBH6,ALKBH6 EXON Missense_E143K,Silent exm1458681 19 36508647 [A/G] NM_015526,NM_001199570 CLIP3,CLIP3 EXON Missense_T454I,Missense_T454I exm1458691 19 36509814 [T/C] NM_015526,NM_001199570 CLIP3,CLIP3 EXON Missense_R390H,Missense_R390H exm1934157 19 36515369 [T/C] NM_015526,NM_001199570 CLIP3,CLIP3 EXON Missense_V283I,Missense_V283I exm1458712 19 36515437 [A/G] NM_015526,NM_001199570 CLIP3,CLIP3 EXON Missense_T260M,Missense_T260M exm1458740 19 36526362 [T/C] NM_152658 THAP8 EXON Missense_T269A exm1458743 19 36526398 [A/G] NM_152658 THAP8 EXON Missense_P257S exm1458747 19 36526495 [G/C] NM_152658 THAP8 Silent exm2229027 19 36530419 [A/G] NM_152658 THAP8 EXON Missense_S160P exm1934192 19 36530421 [T/C] NM_152658 THAP8 EXON Missense_R159Q exm1458758 19 36530428 [A/G] NM_152658 THAP8 EXON Missense_P157S exm1458773 19 36530605 [A/G] NM_152658 THAP8 EXON Nonsense_R98X exm1458774 19 36530893 [A/G] NM_152658 THAP8 EXON Missense_R77W exm1458776 19 36530913 [T/C] NM_152658 THAP8 EXON Missense_R70H exm1458777 19 36530914 [A/G] NM_152658 THAP8 EXON Missense_R70C exm1458796 19 36545883 [G/C] NM_001083961,NM_173636 WDR62,WDR62 EXON Missense_V4L,Missense_V4L exm2229028 19 36545901 [T/G] NM_001083961,NM_173636 WDR62,WDR62 EXON Missense_A10S,Missense_A10S exm1458800 19 36545955 [T/C] NM_001083961,NM_173636 WDR62,WDR62 EXON Missense_R28W,Missense_R28W exm1458802 19 36546015 [T/C] NM_001083961,NM_173636 WDR62,WDR62 EXON Missense_L48F,Missense_L48F exm1458806 19 36549707 [T/C] NM_001083961,NM_173636 WDR62,WDR62 EXON Missense_I68T,Missense_I68T exm1458808 19 36549745 [A/G] NM_001083961,NM_173636 WDR62,WDR62 EXON Missense_G81S,Missense_G81S exm1458809 19 36549757 [A/G] NM_001083961,NM_173636 WDR62,WDR62 EXON Missense_V85M,Missense_V85M exm1458813 19 36550903 [A/C] NM_001083961,NM_173636 WDR62,WDR62 EXON Missense_N101K,Missense_N101K exm1458814 19 36550912 [C/G] NM_001083961,NM_173636 WDR62,WDR62 EXON Missense_Q104H,Missense_Q104H exm1458828 19 36558775 [A/G] NM_001083961,NM_173636 WDR62,WDR62 EXON Missense_E249K,Missense_E249K exm1458835 19 36558896 [A/G] NM_001083961,NM_173636 WDR62,WDR62 EXON Missense_K289R,Missense_K289R exm1458839 19 36562497 [A/G] NM_001083961,NM_173636 WDR62,WDR62 EXON Missense_I308V,Missense_I308V exm2276632 19 36572416 [T/C] NM_001083961,NM_173636 WDR62,WDR62 EXON Missense_F439L,Missense_F439L exm1458873 19 36575645 [A/G] NM_001083961,NM_173636 WDR62,WDR62 EXON Synonymous_T547T,Synonymous_T547T exm1458878 19 36577642 [A/G] NM_001083961,NM_173636 WDR62,WDR62 EXON Missense_V566M,Missense_V566M exm1458911 19 36584980 [G/C] NM_001083961,NM_173636 WDR62,WDR62 EXON Missense_P794R,Missense_P794R exm1458919 19 36590329 [T/C] NM_001083961,NM_173636 WDR62,WDR62 EXON Missense_L850S,Missense_L850S exm1458922 19 36590446 [T/C] NM_001083961,NM_173636 WDR62,WDR62 EXON Missense_M889T,Missense_M889T exm1458935 19 36592569 [T/C] NM_001083961,NM_173636 WDR62,WDR62 EXON Missense_S992L,Missense_S992L exm1458959 19 36593666 [T/C] NM_001083961,NM_173636 WDR62,WDR62 EXON Missense_V1083A,Missense_V1078A exm1458962 19 36593720 [T/C] NM_001083961,NM_173636 WDR62,WDR62 EXON Missense_T1101M,Missense_T1096M exm1458971 19 36593921 [A/G] NM_001083961,NM_173636 WDR62,WDR62 EXON Missense_R1136Q,Missense_R1131Q exm1458972 19 36593954 [A/G] NM_001083961,NM_173636 WDR62,WDR62 EXON Missense_Y1147C,Missense_Y1142C exm2253794 19 36594063 [T/C] NM_001083961,NM_173636 WDR62,WDR62 EXON Synonymous_L1156L,Synonymous_L1151L exm1458978 19 36594110 [A/G] NM_001083961,NM_173636 WDR62,WDR62 Silent,Silent exm1458991 19 36594404 [A/G] NM_001083961,NM_173636 WDR62,WDR62 EXON Missense_R1225H,Missense_R1220H exm1458999 19 36594542 [T/C] NM_001083961,NM_173636 WDR62,WDR62 EXON Missense_A1271V,Missense_A1266V exm1934298 19 36594667 [A/G] NM_001083961,NM_173636 WDR62,WDR62 EXON Missense_V1313M,Missense_V1308M exm1459007 19 36594676 [G/C] NM_001083961,NM_173636 WDR62,WDR62 EXON Missense_Q1316E,Missense_Q1311E exm1459018 19 36594853 [A/G] NM_001083961,NM_173636 WDR62,WDR62 EXON Missense_G1375S,Missense_G1370S exm1459022 19 36595425 [A/C] NM_001083961,NM_173636 WDR62,WDR62 EXON Missense_L1387I,Missense_L1382I exm1459024 19 36595436 [A/C] NM_001083961,NM_173636 WDR62,WDR62 EXON Missense_L1390F,Missense_L1385F exm1459046 19 36595884 [T/C] NM_001083961,NM_173636 WDR62,WDR62 EXON Missense_S1509L,Missense_S1504L exm1459051 19 36595908 [A/G] NM_001083961,NM_173636 WDR62,WDR62 EXON Missense_R1517Q,Missense_R1512Q exm1459090 19 36606512 [A/G] NM_001281 TBCB EXON Missense_S17N exm1459167 19 36636905 [T/C] NM_001003962,NM_001749 CAPNS1,CAPNS1 EXON Nonsense_R185X,Nonsense_R185X exm1459198 19 36642390 [T/C] NM_001864 COX7A1 EXON Missense_R54Q exm1459203 19 36642418 [G/C] NM_001864 COX7A1 EXON Missense_G45R exm2229037 19 36642421 [T/G] NM_001864 COX7A1 EXON Missense_K44Q exm1459254 19 36674305 [A/G] NM_152477,NM_001042474 ZNF565,ZNF565 EXON Missense_I188T,Missense_I188T exm1934382 19 36674347 [T/C] NM_152477,NM_001042474 ZNF565,ZNF565 EXON Missense_K174R,Missense_K174R exm1459257 19 36674390 [T/C] NM_152477,NM_001042474 ZNF565,ZNF565 EXON Missense_R160G,Missense_R160G exm1459259 19 36674429 [T/C] NM_152477,NM_001042474 ZNF565,ZNF565 EXON Missense_V147M,Missense_V147M exm1459262 19 36674485 [T/G] NM_152477,NM_001042474 ZNF565,ZNF565 EXON Missense_Q128P,Missense_Q128P exm1934386 19 36674533 [A/C] NM_152477,NM_001042474 ZNF565,ZNF565 EXON Missense_G112V,Missense_G112V exm1459264 19 36674557 [T/C] NM_152477,NM_001042474 ZNF565,ZNF565 EXON Missense_S104N,Missense_S104N exm1459272 19 36685950 [A/C] NM_152477,NM_001042474 ZNF565,ZNF565 EXON Missense_G40C,Missense_G40C exm1459304 19 36831182 [A/C] NM_020917 ZFP14 EXON Missense_A516S exm1459313 19 36831616 [T/A] NM_020917 ZFP14 EXON Missense_K371M exm1459319 19 36831764 [T/C] NM_020917 ZFP14 EXON Missense_V322I exm1459324 19 36831950 [C/G] NM_020917 ZFP14 EXON Missense_E260Q exm1459341 19 36832427 [A/T] NM_020917 ZFP14 EXON Missense_F101I exm1459346 19 36853100 [T/C] NM_020917 ZFP14 EXON Missense_Q17R exm1459363 19 36884211 [C/G] NM_133466 ZFP82 EXON Missense_G344A exm1459384 19 36898895 [T/A] NM_133466 ZFP82 EXON Missense_D10E exm2272786 19 36904463 [T/C] NM_133466 ZFP82 Silent exm2229042 19 36940510 [G/C] NM_001145344,NM_001145345,NM_001145343,NM_032838 ZNF566,ZNF566,ZNF566,ZNF566 EXON Missense_R209T,Missense_R209T,Missense_R210T,Missense_R209T exm1459410 19 36940518 [A/C] NM_001145344,NM_001145345,NM_001145343,NM_032838 ZNF566,ZNF566,ZNF566,ZNF566 EXON Missense_K206N,Missense_K206N,Missense_K207N,Missense_K206N exm1459412 19 36940622 [T/C] NM_001145344,NM_001145345,NM_001145343,NM_032838 ZNF566,ZNF566,ZNF566,ZNF566 EXON Missense_A172T,Missense_A172T,Missense_A173T,Missense_A172T exm1459426 19 36940805 [A/G] NM_001145344,NM_001145345,NM_001145343,NM_032838 ZNF566,ZNF566,ZNF566,ZNF566 EXON Missense_R111C,Missense_R111C,Missense_R112C,Missense_R111C exm1459456 19 37005423 [T/C] NM_001166036,NM_001166038,NM_001012756,NM_001166037 ZNF260,ZNF260,ZNF260,ZNF260 EXON Missense_R240G,Missense_R240G,Missense_R240G,Missense_R240G exm1459461 19 37005500 [T/C] NM_001166036,NM_001166038,NM_001012756,NM_001166037 ZNF260,ZNF260,ZNF260,ZNF260 EXON Missense_H214R,Missense_H214R,Missense_H214R,Missense_H214R exm1459474 19 37005872 [T/C] NM_001166036,NM_001166038,NM_001012756,NM_001166037 ZNF260,ZNF260,ZNF260,ZNF260 EXON Missense_K90R,Missense_K90R,Missense_K90R,Missense_K90R exm1459479 19 37005998 [A/G] NM_001166036,NM_001166038,NM_001012756,NM_001166037 ZNF260,ZNF260,ZNF260,ZNF260 EXON Missense_M48T,Missense_M48T,Missense_M48T,Missense_M48T exm2229043 19 37038010 [G/C] NM_001145650,NM_020951,NM_001145649 ZNF529,ZNF529,ZNF529 EXON Missense_G466R,Missense_G484R,Missense_G484R exm1459509 19 37038454 [T/G] NM_001145650,NM_020951,NM_001145649 ZNF529,ZNF529,ZNF529 EXON Missense_K318Q,Missense_K336Q,Missense_K336Q exm2229044 19 37038682 [T/C] NM_001145650,NM_020951,NM_001145649 ZNF529,ZNF529,ZNF529 EXON Missense_R242G,Missense_R260G,Missense_R260G exm1459525 19 37038972 [T/C] NM_001145650,NM_020951,NM_001145649 ZNF529,ZNF529,ZNF529 EXON Missense_R145K,Missense_R163K,Missense_R163K exm1459526 19 37039069 [A/C] NM_001145650,NM_020951,NM_001145649 ZNF529,ZNF529,ZNF529 EXON Missense_L113V,Missense_L131V,Missense_L131V exm1459539 19 37100817 [A/G] NM_001256838,NM_032825 ZNF382,ZNF382 EXON Silent,Missense_M1V exm1934492 19 37117295 [A/G] NM_001256838,NM_032825 ZNF382,ZNF382 EXON Missense_G165R,Missense_G166R exm1459550 19 37117302 [A/G] NM_001256838,NM_032825 ZNF382,ZNF382 EXON Missense_E167G,Missense_E168G exm1459555 19 37117490 [A/G] NM_001256838,NM_032825 ZNF382,ZNF382 EXON Missense_T230A,Missense_T231A exm1459561 19 37117733 [A/G] NM_001256838,NM_032825 ZNF382,ZNF382 EXON Missense_I311V,Missense_I312V exm1459593 19 37129806 [A/G] NM_153257 ZNF461 EXON Missense_H481Y exm1459599 19 37129845 [A/G] NM_153257 ZNF461 EXON Missense_P468S exm1459605 19 37130113 [A/C] NM_153257 ZNF461 EXON Missense_I378M exm1459614 19 37130357 [T/C] NM_153257 ZNF461 EXON Missense_G297D exm1459616 19 37130433 [A/G] NM_153257 ZNF461 EXON Missense_R272C exm1459624 19 37130804 [T/C] NM_153257 ZNF461 EXON Missense_N148S exm1459629 19 37134737 [T/C] NM_153257 ZNF461 EXON Missense_N87S exm1459631 19 37147422 [T/C] NM_153257 ZNF461 EXON Missense_V54I exm1459636 19 37149260 [A/G] NM_153257 ZNF461 EXON Missense_A26V exm1459640 19 37155602 [A/G] NM_153257 ZNF461 EXON Missense_H3Y exm1459651 19 37210223 [G/C] NM_152603 ZNF567 EXON Missense_Q168H exm1459677 19 37211287 [T/C] NM_152603 ZNF567 EXON Missense_I523T exm1459688 19 37211557 [T/C] NM_152603 ZNF567 EXON Missense_I613T exm1459695 19 37238758 [T/C] NM_001193552,NM_001267779 ZNF850,ZNF850 EXON Missense_E1062K,Missense_E1030K exm1459722 19 37309486 [T/C] NR_040027,NR_040028,NM_001242802,NM_001242801,NM_001242800,NM_206894 ZNF790-AS1,ZNF790-AS1,ZNF790,ZNF790,ZNF790,ZNF790 EXON Silent,Silent,Missense_N587S,Missense_N587S,Missense_N587S,Missense_N587S exm1459741 19 37309922 [T/C] NR_040027,NR_040028,NM_001242802,NM_001242801,NM_001242800,NM_206894 ZNF790-AS1,ZNF790-AS1,ZNF790,ZNF790,ZNF790,ZNF790 EXON Silent,Silent,Missense_K442E,Missense_K442E,Missense_K442E,Missense_K442E exm1459743 19 37309964 [T/C] NR_040027,NR_040028,NM_001242802,NM_001242801,NM_001242800,NM_206894 ZNF790-AS1,ZNF790-AS1,ZNF790,ZNF790,ZNF790,ZNF790 EXON Silent,Silent,Missense_G428R,Missense_G428R,Missense_G428R,Missense_G428R exm1459749 19 37310116 [T/C] NR_040027,NR_040028,NM_001242802,NM_001242801,NM_001242800,NM_206894 ZNF790-AS1,ZNF790-AS1,ZNF790,ZNF790,ZNF790,ZNF790 EXON Silent,Silent,Missense_R377H,Missense_R377H,Missense_R377H,Missense_R377H exm1934567 19 37310134 [T/C] NR_040027,NR_040028,NM_001242802,NM_001242801,NM_001242800,NM_206894 ZNF790-AS1,ZNF790-AS1,ZNF790,ZNF790,ZNF790,ZNF790 EXON Silent,Silent,Missense_C371Y,Missense_C371Y,Missense_C371Y,Missense_C371Y exm1459759 19 37310479 [G/C] NR_040027,NR_040028,NM_001242802,NM_001242801,NM_001242800,NM_206894 ZNF790-AS1,ZNF790-AS1,ZNF790,ZNF790,ZNF790,ZNF790 EXON Silent,Silent,Missense_C256S,Missense_C256S,Missense_C256S,Missense_C256S exm1459760 19 37310498 [T/C] NR_040027,NR_040028,NM_001242802,NM_001242801,NM_001242800,NM_206894 ZNF790-AS1,ZNF790-AS1,ZNF790,ZNF790,ZNF790,ZNF790 EXON Silent,Silent,Missense_G250S,Missense_G250S,Missense_G250S,Missense_G250S exm1459767 19 37310683 [T/C] NR_040027,NR_040028,NM_001242802,NM_001242801,NM_001242800,NM_206894 ZNF790-AS1,ZNF790-AS1,ZNF790,ZNF790,ZNF790,ZNF790 EXON Silent,Silent,Missense_H188R,Missense_H188R,Missense_H188R,Missense_H188R exm1459769 19 37310785 [T/C] NR_040027,NR_040028,NM_001242802,NM_001242801,NM_001242800,NM_206894 ZNF790-AS1,ZNF790-AS1,ZNF790,ZNF790,ZNF790,ZNF790 EXON Silent,Silent,Missense_H154R,Missense_H154R,Missense_H154R,Missense_H154R exm1459773 19 37310873 [T/C] NR_040027,NR_040028,NM_001242802,NM_001242801,NM_001242800,NM_206894 ZNF790-AS1,ZNF790-AS1,ZNF790,ZNF790,ZNF790,ZNF790 EXON Silent,Silent,Missense_T125A,Missense_T125A,Missense_T125A,Missense_T125A exm1459778 19 37311001 [T/C] NR_040027,NR_040028,NM_001242802,NM_001242801,NM_001242800,NM_206894 ZNF790-AS1,ZNF790-AS1,ZNF790,ZNF790,ZNF790,ZNF790 EXON Silent,Silent,Missense_C82Y,Missense_C82Y,Missense_C82Y,Missense_C82Y exm1934581 19 37314588 [A/G] NR_040027,NR_040028,NM_001242802,NM_001242801,NM_001242800,NM_206894 ZNF790-AS1,ZNF790-AS1,ZNF790,ZNF790,ZNF790,ZNF790 EXON Silent,Silent,Synonymous_Y38Y,Synonymous_Y38Y,Synonymous_Y38Y,Synonymous_Y38Y exm2268229 19 37357289 [A/G] NM_003419,NM_001242474,NM_001242472,NR_038362,NM_001242475,NM_001242476 ZNF345,ZNF345,ZNF345,ZNF345,ZNF345,ZNF345 Silent,Silent,Silent,Silent,Silent,Silent exm1459794 19 37367833 [A/G] NM_003419,NM_001242474,NM_001242472,NR_038362,NM_001242475,NM_001242476 ZNF345,ZNF345,ZNF345,ZNF345,ZNF345,ZNF345 EXON Missense_H34R,Missense_H34R,Missense_H34R,Silent,Missense_H34R,Missense_H34R exm1459798 19 37367976 [T/C] NM_003419,NM_001242474,NM_001242472,NR_038362,NM_001242475,NM_001242476 ZNF345,ZNF345,ZNF345,ZNF345,ZNF345,ZNF345 EXON Nonsense_R82X,Nonsense_R82X,Nonsense_R82X,Silent,Nonsense_R82X,Nonsense_R82X exm1459811 19 37368254 [T/G] NM_003419,NM_001242474,NM_001242472,NR_038362,NM_001242475,NM_001242476 ZNF345,ZNF345,ZNF345,ZNF345,ZNF345,ZNF345 EXON Nonsense_Y174X,Nonsense_Y174X,Nonsense_Y174X,Silent,Nonsense_Y174X,Nonsense_Y174X exm1459813 19 37368457 [G/C] NM_003419,NM_001242474,NM_001242472,NR_038362,NM_001242475,NM_001242476 ZNF345,ZNF345,ZNF345,ZNF345,ZNF345,ZNF345 EXON Missense_G242A,Missense_G242A,Missense_G242A,Silent,Missense_G242A,Missense_G242A exm1934621 19 37368748 [A/C] NM_003419,NM_001242474,NM_001242472,NR_038362,NM_001242475,NM_001242476 ZNF345,ZNF345,ZNF345,ZNF345,ZNF345,ZNF345 EXON Missense_E339A,Missense_E339A,Missense_E339A,Silent,Missense_E339A,Missense_E339A exm2229062 19 37368864 [A/G] NM_003419,NM_001242474,NM_001242472,NR_038362,NM_001242475,NM_001242476 ZNF345,ZNF345,ZNF345,ZNF345,ZNF345,ZNF345 EXON Missense_A378T,Missense_A378T,Missense_A378T,Silent,Missense_A378T,Missense_A378T exm1459838 19 37368936 [C/G] NM_003419,NM_001242474,NM_001242472,NR_038362,NM_001242475,NM_001242476 ZNF345,ZNF345,ZNF345,ZNF345,ZNF345,ZNF345 EXON Missense_E402Q,Missense_E402Q,Missense_E402Q,Silent,Missense_E402Q,Missense_E402Q exm1459847 19 37382396 [T/A] NR_038362,NM_001171979,NM_001037232 ZNF345,ZNF829,ZNF829 EXON Silent,Missense_X514R,Missense_X433R exm1459856 19 37382708 [A/C] NR_038362,NM_001171979,NM_001037232 ZNF345,ZNF829,ZNF829 EXON Silent,Missense_C410G,Missense_C329G exm1459863 19 37383100 [A/G] NR_038362,NM_001171979,NM_001037232 ZNF345,ZNF829,ZNF829 EXON Silent,Missense_L279P,Missense_L198P exm1459871 19 37383253 [T/G] NR_038362,NM_001171979,NM_001037232 ZNF345,ZNF829,ZNF829 EXON Silent,Missense_Q228P,Missense_Q147P exm1459882 19 37399350 [T/C] NM_001171979,NM_001037232 ZNF829,ZNF829 EXON Missense_M117I,Missense_M36I exm1459902 19 37428070 [T/A] NM_001204836,NM_001204838,NM_001204837,NM_001204839,NM_001204835,NM_198539 ZNF568,ZNF568,ZNF568,ZNF568,ZNF568,ZNF568 EXON Missense_D31V,Missense_D95V,Missense_D31V,Missense_D31V,Missense_D95V,Missense_D95V exm1459907 19 37440497 [T/A] NM_001204836,NM_001204838,NM_001204837,NM_001204839,NM_001204835,NM_198539 ZNF568,ZNF568,ZNF568,ZNF568,ZNF568,ZNF568 EXON Missense_I84L,Silent,Missense_I84L,Silent,Missense_I147L,Missense_I148L exm1459937 19 37441365 [T/C] NM_001204836,NM_001204838,NM_001204837,NM_001204839,NM_001204835,NM_198539 ZNF568,ZNF568,ZNF568,ZNF568,ZNF568,ZNF568 EXON Missense_M373T,Silent,Missense_M373T,Silent,Missense_M436T,Missense_M437T exm1459947 19 37441598 [T/C] NM_001204836,NM_001204838,NM_001204837,NM_001204839,NM_001204835,NM_198539 ZNF568,ZNF568,ZNF568,ZNF568,ZNF568,ZNF568 EXON Missense_S451P,Silent,Missense_S451P,Silent,Missense_S514P,Missense_S515P exm1459950 19 37441662 [G/C] NM_001204836,NM_001204838,NM_001204837,NM_001204839,NM_001204835,NM_198539 ZNF568,ZNF568,ZNF568,ZNF568,ZNF568,ZNF568 EXON Missense_G472A,Silent,Missense_G472A,Silent,Missense_G535A,Missense_G536A exm2229068 19 37441892 [T/C] NM_001204836,NM_001204838,NM_001204837,NM_001204839,NM_001204835,NM_198539 ZNF568,ZNF568,ZNF568,ZNF568,ZNF568,ZNF568 EXON Missense_P549S,Silent,Missense_P549S,Silent,Missense_P612S,Missense_P613S exm1459959 19 37441968 [T/G] NM_001204836,NM_001204838,NM_001204837,NM_001204839,NM_001204835,NM_198539 ZNF568,ZNF568,ZNF568,ZNF568,ZNF568,ZNF568 EXON Missense_G574V,Silent,Missense_G574V,Silent,Missense_G637V,Missense_G638V exm1459960 19 37441980 [A/G] NM_001204836,NM_001204838,NM_001204837,NM_001204839,NM_001204835,NM_198539 ZNF568,ZNF568,ZNF568,ZNF568,ZNF568,ZNF568 EXON Missense_Q578R,Silent,Missense_Q578R,Silent,Missense_Q641R,Missense_Q642R exm1459963 19 37482151 [A/G] NM_001204838,NM_001204839 ZNF568,ZNF568 EXON Missense_D160G,Missense_D96G exm1459967 19 37487632 [A/G] NM_001204838,NM_001204839 ZNF568,ZNF568 EXON Missense_A347T,Missense_A283T exm1459970 19 37487723 [A/G] NM_001204838,NM_001204839 ZNF568,ZNF568 EXON Missense_R377H,Missense_R313H exm1459974 19 37487860 [T/A] NM_001204838,NM_001204839 ZNF568,ZNF568 EXON Missense_Y423N,Missense_Y359N exm1459975 19 37487866 [A/T] NM_001204838,NM_001204839 ZNF568,ZNF568 EXON Missense_S425C,Missense_S361C exm1459976 19 37487873 [A/C] NM_001204838,NM_001204839 ZNF568,ZNF568 EXON Missense_A427E,Missense_A363E exm1459977 19 37487975 [A/G] NM_001204838,NM_001204839 ZNF568,ZNF568 EXON Missense_R461H,Missense_R397H exm1459979 19 37488055 [T/G] NM_001204838,NM_001204839 ZNF568,ZNF568 EXON Missense_Y488D,Missense_Y424D exm1459989 19 37488499 [T/C] NM_001204838,NM_001204839 ZNF568,ZNF568 EXON Missense_X636R,Missense_X572R exm1459993 19 37581953 [A/C] NM_144689 ZNF420 EXON Nonsense_C22X exm2229082 19 37618045 [A/G] NM_144689 ZNF420 EXON Missense_C51Y exm1459995 19 37618047 [A/G] NM_144689 ZNF420 EXON Missense_A52T exm1459998 19 37618182 [T/G] NM_144689 ZNF420 EXON Nonsense_E97X exm1460013 19 37618500 [A/G] NM_144689 ZNF420 EXON Missense_A203T exm1460016 19 37618714 [T/C] NM_144689 ZNF420 EXON Missense_T274I exm1460045 19 37619669 [A/T] NM_144689 ZNF420 EXON Nonsense_C592X exm1460052 19 37619845 [T/C] NM_144689 ZNF420 EXON Missense_A651V exm1934777 19 37619940 [A/G] NM_144689 ZNF420 EXON Missense_G683S exm1460112 19 37643212 [A/G] NM_199126,NM_152655 ZNF585A,ZNF585A EXON Missense_A475V,Missense_A475V exm2229085 19 37643239 [T/G] NM_199126,NM_152655 ZNF585A,ZNF585A EXON Missense_P466H,Missense_P466H exm2229086 19 37643534 [T/C] NM_199126,NM_152655 ZNF585A,ZNF585A EXON Missense_A368T,Missense_A368T exm1460150 19 37644173 [T/C] NM_199126,NM_152655 ZNF585A,ZNF585A EXON Missense_G155R,Missense_G155R exm1460173 19 37676134 [T/C] NM_152279 ZNF585B EXON Missense_A769T exm1460237 19 37677559 [T/C] NM_152279 ZNF585B EXON Missense_G294R exm2253801 19 37677689 [T/C] NM_152279 ZNF585B EXON Synonymous_A250A exm1460246 19 37677748 [A/T] NM_152279 ZNF585B EXON Missense_I231L exm1460258 19 37677913 [A/G] NM_152279 ZNF585B EXON Missense_H176Y exm1460260 19 37677984 [T/G] NM_152279 ZNF585B EXON Missense_P152H exm1460261 19 37678089 [A/G] NM_152279 ZNF585B EXON Missense_S117F exm1460263 19 37678105 [C/G] NM_152279 ZNF585B EXON Missense_G112R exm1460265 19 37680561 [A/G] NM_152279 ZNF585B Silent exm1460266 19 37680563 [T/C] NM_152279 ZNF585B EXON Missense_G98R exm2229094 19 37726902 [A/C] NM_152604 ZNF383 EXON Missense_Q53P exm1460297 19 37733622 [A/C] NM_152604 ZNF383 EXON Missense_I162L exm2253803 19 37835658 [T/C] NM_181786 HKR1 EXON Synonymous_S24S exm1460348 19 37838713 [C/G] NM_181786 HKR1 EXON Missense_Q84H exm1460351 19 37853014 [T/C] NM_181786 HKR1 EXON Missense_S106L exm1460388 19 37853703 [T/C] NM_181786 HKR1 EXON Nonsense_R336X exm1460399 19 37853881 [A/G] NM_181786 HKR1 EXON Missense_R395H exm1460406 19 37854040 [A/G] NM_181786 HKR1 EXON Missense_R448H exm1460413 19 37854207 [T/C] NM_181786 HKR1 EXON Nonsense_R504X exm1460415 19 37854235 [T/G] NM_181786 HKR1 EXON Missense_S513I exm1460420 19 37854273 [A/G] NM_181786 HKR1 EXON Missense_V526I exm1460421 19 37854288 [A/G] NM_181786 HKR1 EXON Missense_G531R exm1460428 19 37854418 [T/C] NM_181786 HKR1 EXON Missense_A574V exm1460440 19 37854580 [T/C] NM_181786 HKR1 EXON Missense_T628I exm1460442 19 37854621 [T/C] NM_181786 HKR1 EXON Missense_R642W exm1460444 19 37854649 [T/C] NM_181786 HKR1 EXON Missense_I651T exm1460451 19 37870148 [T/G] NM_032453 ZNF527 EXON Nonsense_G54X exm1460460 19 37879316 [A/C] NM_032453 ZNF527 EXON Missense_E122A exm1934947 19 37879588 [T/C] NM_032453 ZNF527 EXON Missense_H213Y exm1460467 19 37879589 [A/G] NM_032453 ZNF527 EXON Missense_H213R exm1460468 19 37879615 [A/C] NM_032453 ZNF527 EXON Missense_N222H exm1460473 19 37879775 [A/G] NM_032453 ZNF527 EXON Missense_G275E exm1460479 19 37879839 [C/G] NM_032453 ZNF527 EXON Missense_H296Q exm1460480 19 37879840 [A/G] NM_032453 ZNF527 EXON Missense_S297G exm1460487 19 37879848 [A/C] NM_032453 ZNF527 EXON Missense_E299D exm1460513 19 37879963 [A/G] NM_032453 ZNF527 EXON Missense_A338T exm1460546 19 37880746 [T/C] NM_032453 ZNF527 EXON Nonsense_R599X exm2272787 19 37894468 [T/G] exm1460550 19 37903512 [A/G] NM_152484 ZNF569 EXON Missense_I683T exm1460552 19 37903657 [T/C] NM_152484 ZNF569 EXON Missense_D635N exm1460565 19 37904010 [G/C] NM_152484 ZNF569 EXON Missense_T517S exm1460584 19 37904452 [T/G] NM_152484 ZNF569 EXON Missense_I370L exm1460586 19 37904527 [T/C] NM_152484 ZNF569 EXON Missense_M345V exm1460591 19 37904703 [A/G] NM_152484 ZNF569 EXON Missense_I286T exm1460597 19 37905068 [A/C] NM_152484 ZNF569 EXON Missense_H164Q exm1460598 19 37905073 [C/G] NM_152484 ZNF569 EXON Missense_E163Q exm1460602 19 37905216 [T/C] NM_152484 ZNF569 EXON Missense_C115Y exm1460624 19 37974799 [A/G] NM_144694 ZNF570 EXON Missense_E92G exm1460625 19 37974801 [A/C] NM_144694 ZNF570 EXON Missense_T93P exm1460628 19 37974904 [A/C] NM_144694 ZNF570 EXON Missense_E127A exm1460630 19 37975041 [A/C] NM_144694 ZNF570 EXON Missense_Q173K exm1460631 19 37975093 [A/G] NM_144694 ZNF570 EXON Missense_H190R exm1460634 19 37975140 [A/G] NM_144694 ZNF570 EXON Missense_I206V exm1460637 19 37975192 [A/G] NM_144694 ZNF570 EXON Missense_C223Y exm1460638 19 37975197 [A/G] NM_144694 ZNF570 EXON Missense_K225E exm1460655 19 37975803 [A/G] NM_144694 ZNF570 EXON Missense_A427T exm2253804 19 37975850 [T/C] NM_144694 ZNF570 EXON Synonymous_Y442Y exm1460675 19 38023257 [A/G] NM_001013659 ZNF793 Silent exm1460678 19 38023312 [T/C] NM_001013659 ZNF793 EXON Missense_R24W exm1460680 19 38023375 [A/G] NM_001013659 ZNF793 EXON Missense_V45I exm1460682 19 38024271 [T/G] NM_001013659 ZNF793 EXON Missense_I68M exm1460684 19 38024288 [T/C] NM_001013659 ZNF793 EXON Missense_P74L exm1460695 19 38028101 [T/C] NM_001013659 ZNF793 EXON Nonsense_R181X exm1460698 19 38028123 [A/G] NM_001013659 ZNF793 EXON Missense_R188Q exm1460701 19 38028162 [T/C] NM_001013659 ZNF793 EXON Missense_P201L exm1460702 19 38028171 [T/C] NM_001013659 ZNF793 EXON Missense_M204T exm1460704 19 38028209 [T/C] NM_001013659 ZNF793 EXON Missense_R217W exm1460709 19 38028452 [T/C] NM_001013659 ZNF793 EXON Missense_R298C exm1460711 19 38028484 [C/G] NM_001013659 ZNF793 EXON Missense_E308D exm1460727 19 38055534 [T/G] NR_038248,NR_038247,NR_038249,NM_152606,NR_038250,NM_016536 LOC100507433,LOC100507433,LOC100507433,ZNF540,LOC100507433,ZNF571 EXON Silent,Silent,Silent,Silent,Silent,Nonsense_S599X exm1460729 19 38055550 [T/C] NR_038248,NR_038247,NR_038249,NM_152606,NR_038250,NM_016536 LOC100507433,LOC100507433,LOC100507433,ZNF540,LOC100507433,ZNF571 EXON Silent,Silent,Silent,Silent,Silent,Missense_D594N exm1460730 19 38055553 [T/C] NR_038248,NR_038247,NR_038249,NM_152606,NR_038250,NM_016536 LOC100507433,LOC100507433,LOC100507433,ZNF540,LOC100507433,ZNF571 EXON Silent,Silent,Silent,Silent,Silent,Missense_K593E exm1460745 19 38055681 [T/C] NR_038248,NR_038247,NR_038249,NM_152606,NR_038250,NM_016536 LOC100507433,LOC100507433,LOC100507433,ZNF540,LOC100507433,ZNF571 EXON Silent,Silent,Silent,Silent,Silent,Missense_R550K exm1460747 19 38055730 [A/G] NR_038248,NR_038247,NR_038249,NM_152606,NR_038250,NM_016536 LOC100507433,LOC100507433,LOC100507433,ZNF540,LOC100507433,ZNF571 EXON Silent,Silent,Silent,Silent,Silent,Nonsense_Q534X exm1460749 19 38055763 [T/C] NR_038248,NR_038247,NR_038249,NM_152606,NR_038250,NM_016536 LOC100507433,LOC100507433,LOC100507433,ZNF540,LOC100507433,ZNF571 EXON Silent,Silent,Silent,Silent,Silent,Missense_I523V exm1460752 19 38055849 [A/C] NR_038248,NR_038247,NR_038249,NM_152606,NR_038250,NM_016536 LOC100507433,LOC100507433,LOC100507433,ZNF540,LOC100507433,ZNF571 EXON Silent,Silent,Silent,Silent,Silent,Missense_R494I exm1460757 19 38055891 [A/C] NR_038248,NR_038247,NR_038249,NM_152606,NR_038250,NM_016536 LOC100507433,LOC100507433,LOC100507433,ZNF540,LOC100507433,ZNF571 EXON Silent,Silent,Silent,Silent,Silent,Missense_G480V exm1460761 19 38055957 [T/C] NR_038248,NR_038247,NR_038249,NM_152606,NR_038250,NM_016536 LOC100507433,LOC100507433,LOC100507433,ZNF540,LOC100507433,ZNF571 EXON Silent,Silent,Silent,Silent,Silent,Missense_R458H exm1935039 19 38056005 [A/G] NR_038248,NR_038247,NR_038249,NM_152606,NR_038250,NM_016536 LOC100507433,LOC100507433,LOC100507433,ZNF540,LOC100507433,ZNF571 EXON Silent,Silent,Silent,Silent,Silent,Missense_T442I exm1460772 19 38056096 [T/C] NR_038248,NR_038247,NR_038249,NM_152606,NR_038250,NM_016536 LOC100507433,LOC100507433,LOC100507433,ZNF540,LOC100507433,ZNF571 EXON Silent,Silent,Silent,Silent,Silent,Missense_I412V exm1460790 19 38056438 [A/G] NR_038248,NR_038247,NR_038249,NM_152606,NR_038250,NM_016536 LOC100507433,LOC100507433,LOC100507433,ZNF540,LOC100507433,ZNF571 EXON Silent,Silent,Silent,Silent,Silent,Nonsense_Q298X exm1460799 19 38056630 [A/G] NR_038248,NR_038247,NR_038249,NM_152606,NR_038250,NM_016536 LOC100507433,LOC100507433,LOC100507433,ZNF540,LOC100507433,ZNF571 EXON Silent,Silent,Silent,Silent,Silent,Missense_R234C exm1460800 19 38056651 [T/C] NR_038248,NR_038247,NR_038249,NM_152606,NR_038250,NM_016536 LOC100507433,LOC100507433,LOC100507433,ZNF540,LOC100507433,ZNF571 EXON Silent,Silent,Silent,Silent,Silent,Missense_A227T exm1460803 19 38056666 [A/G] NR_038248,NR_038247,NR_038249,NM_152606,NR_038250,NM_016536 LOC100507433,LOC100507433,LOC100507433,ZNF540,LOC100507433,ZNF571 EXON Silent,Silent,Silent,Silent,Silent,Missense_P222S exm1460809 19 38056821 [T/A] NR_038248,NR_038247,NR_038249,NM_152606,NR_038250,NM_016536 LOC100507433,LOC100507433,LOC100507433,ZNF540,LOC100507433,ZNF571 EXON Silent,Silent,Silent,Silent,Silent,Missense_K170M exm1460818 19 38057104 [A/G] NR_038248,NR_038247,NR_038249,NM_152606,NR_038250,NM_016536 LOC100507433,LOC100507433,LOC100507433,ZNF540,LOC100507433,ZNF571 EXON Silent,Silent,Silent,Silent,Silent,Missense_R76C exm1460821 19 38074878 [A/G] NR_038248,NR_038247,NR_038249,NM_152606,NR_038250,NM_016536 LOC100507433,LOC100507433,LOC100507433,ZNF540,LOC100507433,ZNF571 EXON Silent,Silent,Silent,Silent,Silent,Missense_S44P exm1460844 19 38091932 [T/A] NM_152606,NM_001172225,NM_001172226 ZNF540,ZNF540,ZNF540 EXON Missense_D53V,Missense_D53V,Silent exm1460846 19 38091943 [T/G] NM_152606,NM_001172225,NM_001172226 ZNF540,ZNF540,ZNF540 EXON Missense_L57V,Missense_L57V,Silent exm1460849 19 38102429 [A/G] NM_152606,NM_001172225,NM_001172226 ZNF540,ZNF540,ZNF540 EXON Missense_H83R,Missense_H83R,Missense_H51R exm1460850 19 38102430 [T/A] NM_152606,NM_001172225,NM_001172226 ZNF540,ZNF540,ZNF540 EXON Missense_H83Q,Missense_H83Q,Missense_H51Q exm1460856 19 38102738 [A/C] NM_152606,NM_001172225,NM_001172226 ZNF540,ZNF540,ZNF540 EXON Missense_K186T,Missense_K186T,Missense_K154T exm1460860 19 38102795 [A/G] NM_152606,NM_001172225,NM_001172226 ZNF540,ZNF540,ZNF540 EXON Missense_H205R,Missense_H205R,Missense_H173R exm1460874 19 38102989 [A/C] NM_152606,NM_001172225,NM_001172226 ZNF540,ZNF540,ZNF540 EXON Missense_P270T,Missense_P270T,Missense_P238T exm1460899 19 38103521 [A/C] NM_152606,NM_001172225,NM_001172226 ZNF540,ZNF540,ZNF540 EXON Missense_A447D,Missense_A447D,Missense_A415D exm1460909 19 38103833 [A/G] NM_152606,NM_001172225,NM_001172226 ZNF540,ZNF540,ZNF540 EXON Missense_Y551C,Missense_Y551C,Missense_Y519C exm1935086 19 38104004 [A/C] NM_152606,NM_001172225,NM_001172226 ZNF540,ZNF540,ZNF540 EXON Missense_E608A,Missense_E608A,Missense_E576A exm1460925 19 38125901 [T/C] NM_014898 ZFP30 EXON Missense_R514Q exm1460930 19 38126021 [C/G] NM_014898 ZFP30 EXON Missense_A474G exm1460939 19 38126264 [T/C] NM_014898 ZFP30 EXON Missense_R393H exm1935107 19 38126406 [T/C] NM_014898 ZFP30 EXON Missense_R346G exm1460965 19 38126813 [A/G] NM_014898 ZFP30 EXON Missense_S210F exm1460969 19 38126913 [C/G] NM_014898 ZFP30 EXON Missense_Q177E exm1460974 19 38127024 [T/C] NM_014898 ZFP30 EXON Missense_R140G exm1460975 19 38127030 [T/C] NM_014898 ZFP30 EXON Missense_T138A exm1460978 19 38127099 [T/C] NM_014898 ZFP30 EXON Missense_E115K exm1460995 19 38135582 [A/C] NM_014898 ZFP30 EXON Missense_C22F exm1460997 19 38135625 [A/T] NM_014898 ZFP30 EXON Missense_F8I exm1460999 19 38138716 [T/C] NM_014898 ZFP30 EXON Missense_R3H exm1461003 19 38160069 [C/G] NM_152605 ZNF781 EXON Missense_I327M exm1461017 19 38160276 [T/A] NM_152605 ZNF781 EXON Missense_N258K exm1461033 19 38160565 [T/C] NM_152605 ZNF781 EXON Missense_S162N exm1461036 19 38160644 [T/C] NM_152605 ZNF781 EXON Missense_G136R exm1461042 19 38160742 [T/C] NM_152605 ZNF781 EXON Missense_H103R exm1461048 19 38160893 [A/G] NM_152605 ZNF781 EXON Nonsense_R53X exm1461057 19 38188941 [T/G] NM_032689,NM_001172677 ZNF607,ZNF607 EXON Missense_X697C,Missense_X696C exm1461061 19 38189050 [T/C] NM_032689,NM_001172677 ZNF607,ZNF607 EXON Missense_S661N,Missense_S660N exm1461063 19 38189062 [T/C] NM_032689,NM_001172677 ZNF607,ZNF607 EXON Missense_S657N,Missense_S656N exm2276634 19 38189150 [A/C] NM_032689,NM_001172677 ZNF607,ZNF607 EXON Missense_C628G,Missense_C627G exm1461079 19 38189440 [T/C] NM_032689,NM_001172677 ZNF607,ZNF607 EXON Missense_K531R,Missense_K530R exm1461081 19 38189545 [T/C] NM_032689,NM_001172677 ZNF607,ZNF607 EXON Missense_R496H,Missense_R495H exm1461083 19 38189555 [T/C] NM_032689,NM_001172677 ZNF607,ZNF607 EXON Missense_T493A,Missense_T492A exm1461085 19 38189585 [T/C] NM_032689,NM_001172677 ZNF607,ZNF607 EXON Missense_G483R,Missense_G482R exm1461088 19 38189627 [T/C] NM_032689,NM_001172677 ZNF607,ZNF607 EXON Missense_R469G,Missense_R468G exm1935149 19 38190092 [A/G] NM_032689,NM_001172677 ZNF607,ZNF607 EXON Missense_C314R,Missense_C313R exm1461118 19 38190577 [T/C] NM_032689,NM_001172677 ZNF607,ZNF607 EXON Missense_S152N,Missense_S151N exm1461121 19 38190665 [A/G] NM_032689,NM_001172677 ZNF607,ZNF607 EXON Missense_F123L,Missense_F122L exm1461136 19 38202515 [A/G] NM_032689,NM_001172677 ZNF607,ZNF607 EXON Missense_S2F,Missense_S2F exm1461137 19 38202516 [A/C] NM_032689,NM_001172677 ZNF607,ZNF607 EXON Missense_S2A,Missense_S2A exm1461161 19 38229926 [A/G] NM_001172691,NM_001172690,NM_152360,NM_001172692,NM_001172689 ZNF573,ZNF573,ZNF573,ZNF573,ZNF573 EXON Missense_R487W,Missense_R489W,Missense_R431W,Missense_R401W,Missense_R401W exm1461170 19 38230016 [A/G] NM_001172691,NM_001172690,NM_152360,NM_001172692,NM_001172689 ZNF573,ZNF573,ZNF573,ZNF573,ZNF573 EXON Nonsense_R457X,Nonsense_R459X,Nonsense_R401X,Nonsense_R371X,Nonsense_R371X exm1461172 19 38230025 [T/C] NM_001172691,NM_001172690,NM_152360,NM_001172692,NM_001172689 ZNF573,ZNF573,ZNF573,ZNF573,ZNF573 EXON Missense_N454D,Missense_N456D,Missense_N398D,Missense_N368D,Missense_N368D exm1461194 19 38230534 [T/C] NM_001172691,NM_001172690,NM_152360,NM_001172692,NM_001172689 ZNF573,ZNF573,ZNF573,ZNF573,ZNF573 EXON Missense_R284H,Missense_R286H,Missense_R228H,Missense_R198H,Missense_R198H exm1461202 19 38230695 [T/G] NM_001172691,NM_001172690,NM_152360,NM_001172692,NM_001172689 ZNF573,ZNF573,ZNF573,ZNF573,ZNF573 EXON Missense_H230Q,Missense_H232Q,Missense_H174Q,Missense_H144Q,Missense_H144Q exm1461205 19 38230720 [C/G] NM_001172691,NM_001172690,NM_152360,NM_001172692,NM_001172689 ZNF573,ZNF573,ZNF573,ZNF573,ZNF573 EXON Missense_G222A,Missense_G224A,Missense_G166A,Missense_G136A,Missense_G136A exm1461206 19 38230743 [T/A] NM_001172691,NM_001172690,NM_152360,NM_001172692,NM_001172689 ZNF573,ZNF573,ZNF573,ZNF573,ZNF573 EXON Missense_K214N,Missense_K216N,Missense_K158N,Missense_K128N,Missense_K128N exm1461223 19 38231008 [T/C] NM_001172691,NM_001172690,NM_152360,NM_001172692,NM_001172689 ZNF573,ZNF573,ZNF573,ZNF573,ZNF573 EXON Missense_Y126C,Missense_Y128C,Missense_Y70C,Missense_Y40C,Missense_Y40C exm-rs16975963 19 38325536 [C/G] NR_040015 LOC100631378 Silent exm1461230 19 38375666 [T/C] NM_031951 WDR87 EXON Missense_R2843Q exm1461232 19 38375738 [T/C] NM_031951 WDR87 EXON Missense_Q2819R exm1461243 19 38376261 [G/C] NM_031951 WDR87 EXON Missense_P2645A exm1461244 19 38376330 [A/G] NM_031951 WDR87 EXON Nonsense_Q2622X exm1461247 19 38376468 [A/G] NM_031951 WDR87 EXON Missense_R2576C exm1461248 19 38376485 [A/T] NM_031951 WDR87 EXON Missense_H2570L exm1461249 19 38376594 [A/G] NM_031951 WDR87 EXON Nonsense_R2534X exm1461252 19 38376804 [T/C] NM_031951 WDR87 EXON Missense_T2464A exm1461253 19 38376848 [T/C] NM_031951 WDR87 EXON Missense_H2449R exm1461272 19 38377773 [A/G] NM_031951 WDR87 EXON Missense_R2141W exm1461284 19 38378539 [C/G] NM_031951 WDR87 EXON Missense_N1885K exm1461289 19 38378669 [T/C] NM_031951 WDR87 EXON Missense_E1842G exm1461307 19 38379446 [T/C] NM_031951 WDR87 EXON Missense_R1583Q exm1461308 19 38379447 [A/G] NM_031951 WDR87 EXON Nonsense_R1583X exm1461309 19 38379453 [A/G] NM_031951 WDR87 EXON Nonsense_R1581X exm1461314 19 38379680 [A/G] NM_031951 WDR87 EXON Missense_P1505L exm1461315 19 38379699 [A/C] NM_031951 WDR87 EXON Missense_A1499S exm1461324 19 38380248 [A/G] NM_031951 WDR87 EXON Missense_P1316S exm1461333 19 38380602 [T/C] NM_031951 WDR87 EXON Missense_E1198K exm1461340 19 38380778 [T/C] NM_031951 WDR87 EXON Missense_Q1139R exm1461356 19 38383767 [T/G] NM_031951 WDR87 EXON Missense_Q820P exm2229126 19 38383854 [T/C] NM_031951 WDR87 EXON Missense_R791H exm1461361 19 38384058 [T/C] NM_031951 WDR87 EXON Missense_R723H exm1461367 19 38384397 [A/C] NM_031951 WDR87 EXON Missense_F610C exm1461369 19 38384410 [A/C] NM_031951 WDR87 EXON Missense_S606A exm1461375 19 38384574 [G/C] NM_031951 WDR87 EXON Missense_S551C exm1461379 19 38384689 [T/C] NM_031951 WDR87 EXON Missense_A513T exm1461402 19 38385897 [T/C] NM_031951 WDR87 EXON Missense_R110H exm2260860 19 38438505 [A/G] NM_015073 SIPA1L3 Silent exm1461415 19 38572304 [G/C] NM_015073 SIPA1L3 EXON Missense_D33E exm1461426 19 38572546 [A/C] NM_015073 SIPA1L3 EXON Missense_A114D exm1461428 19 38572597 [T/C] NM_015073 SIPA1L3 EXON Missense_A131V exm1461439 19 38572747 [T/C] NM_015073 SIPA1L3 EXON Missense_A181V exm1461448 19 38572881 [T/C] NM_015073 SIPA1L3 EXON Missense_R226C exm1461450 19 38572894 [T/C] NM_015073 SIPA1L3 EXON Missense_P230L exm1461460 19 38573053 [T/C] NM_015073 SIPA1L3 EXON Missense_A283V exm1461463 19 38573068 [T/C] NM_015073 SIPA1L3 EXON Missense_A288V exm1461466 19 38573139 [T/G] NM_015073 SIPA1L3 EXON Missense_G312W exm2253807 19 38573450 [T/C] NM_015073 SIPA1L3 EXON Synonymous_L415L exm1461501 19 38573620 [A/G] NM_015073 SIPA1L3 EXON Missense_S472N exm1461508 19 38579450 [A/G] NM_015073 SIPA1L3 EXON Missense_G542R exm1461516 19 38590759 [T/C] NM_015073 SIPA1L3 EXON Missense_T608M exm1461528 19 38591803 [T/C] NM_015073 SIPA1L3 EXON Missense_L656F exm1461532 19 38591837 [T/C] NM_015073 SIPA1L3 EXON Missense_T667I exm1461535 19 38597178 [T/C] NM_015073 SIPA1L3 EXON Synonymous_T677T exm1461560 19 38610040 [T/A] NM_015073 SIPA1L3 EXON Missense_L796M exm1461577 19 38610312 [C/G] NM_015073 SIPA1L3 EXON Missense_I886M exm1461578 19 38610313 [A/G] NM_015073 SIPA1L3 EXON Missense_D887N exm1461584 19 38610443 [A/G] NM_015073 SIPA1L3 EXON Missense_Y930C exm1461589 19 38610484 [T/C] NM_015073 SIPA1L3 EXON Missense_S944P exm1461596 19 38621172 [T/C] NM_015073 SIPA1L3 EXON Missense_T968M exm2268193 19 38622123 [A/G] NM_015073 SIPA1L3 Silent exm1461609 19 38631856 [T/C] NM_015073 SIPA1L3 EXON Missense_S1059L exm1461619 19 38631910 [T/G] NM_015073 SIPA1L3 EXON Missense_R1077L exm1461633 19 38643539 [T/C] NM_015073 SIPA1L3 EXON Missense_T1198M exm1461638 19 38643596 [A/G] NM_015073 SIPA1L3 EXON Missense_R1217H exm1461649 19 38652962 [T/C] NM_015073 SIPA1L3 EXON Missense_P1244L exm1461661 19 38655272 [A/G] NM_015073 SIPA1L3 EXON Missense_D1312N exm1461665 19 38655326 [T/C] NM_015073 SIPA1L3 EXON Missense_R1330W exm1461680 19 38655449 [A/G] NM_015073 SIPA1L3 EXON Missense_G1371S exm1461683 19 38655519 [G/C] NM_015073 SIPA1L3 EXON Missense_G1394A exm1461700 19 38673271 [A/G] NM_015073 SIPA1L3 EXON Missense_V1441I exm1461703 19 38673298 [G/C] NM_015073 SIPA1L3 EXON Missense_P1450A exm1461709 19 38673353 [A/G] NM_015073 SIPA1L3 EXON Missense_R1468Q exm1461712 19 38682796 [T/C] NM_015073 SIPA1L3 EXON Missense_T1481M exm1935304 19 38682946 [T/C] NM_015073 SIPA1L3 EXON Missense_T1531M exm1461743 19 38684343 [A/G] NM_015073 SIPA1L3 EXON Missense_R1588H exm1461747 19 38684378 [A/G] NM_015073 SIPA1L3 EXON Missense_G1600S exm1461751 19 38689067 [T/C] NM_015073 SIPA1L3 EXON Missense_R1627W exm1461760 19 38692534 [A/G] NM_015073 SIPA1L3 EXON Missense_D1673N exm1461808 19 38708477 [T/C] NM_001135156,NM_001135155,NM_004647 DPF1,DPF1,DPF1 EXON Missense_A131T,Missense_A213T,Missense_A213T exm1461821 19 38709609 [T/C] NM_001135156,NM_001135155,NM_004647 DPF1,DPF1,DPF1 EXON Missense_I75V,Missense_I157V,Missense_I157V exm-rs8102476 19 38735613 [T/C] exm1461842 19 38742028 [C/G] NM_033256,NM_001243947 PPP1R14A,PPP1R14A EXON Missense_R125P,Missense_R98P exm1461844 19 38742032 [A/G] NM_033256,NM_001243947 PPP1R14A,PPP1R14A EXON Missense_L124F,Missense_L97F exm1461854 19 38746787 [A/G] NM_033256,NM_001243947 PPP1R14A,PPP1R14A EXON Missense_R65C,Missense_R65C exm1461867 19 38774311 [A/G] NM_001166103,NM_021102 SPINT2,SPINT2 EXON Silent,Missense_M51V exm1461874 19 38778569 [T/C] NM_001166103,NM_021102 SPINT2,SPINT2 EXON Missense_P54S,Missense_P111S exm1461887 19 38780912 [A/G] NM_001166103,NM_021102 SPINT2,SPINT2 EXON Missense_R125H,Missense_R182H exm1461892 19 38782485 [G/C] NM_001166103,NM_021102 SPINT2,SPINT2 EXON Missense_V143L,Missense_V200L exm1461899 19 38782584 [T/C] NM_001166103,NM_021102 SPINT2,SPINT2 EXON Missense_R176C,Missense_R233C exm1461900 19 38782585 [A/G] NM_001166103,NM_021102 SPINT2,SPINT2 EXON Missense_R176H,Missense_R233H exm1461902 19 38782590 [A/G] NM_001166103,NM_021102 SPINT2,SPINT2 EXON Missense_V178I,Missense_V235I exm1461922 19 38795554 [A/G] NM_001039672,NM_001145461,NM_001039673,NM_001039671,NM_001145463,NM_033557,NM_001145462,NM_033520 YIF1B,YIF1B,YIF1B,YIF1B,YIF1B,YIF1B,YIF1B,C19orf33 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_K91E exm1461972 19 38800045 [A/G] NM_001039672,NM_001145461,NM_001039673,NM_001039671,NM_001145463,NM_033557,NM_001145462 YIF1B,YIF1B,YIF1B,YIF1B,YIF1B,YIF1B,YIF1B EXON Synonymous_N99N,Synonymous_N82N,Synonymous_N96N,Synonymous_N84N,Synonymous_N96N,Synonymous_N68N,Synonymous_N68N exm1461981 19 38800176 [A/G] NM_001039672,NM_001145461,NM_001039673,NM_001039671,NM_001145463,NM_033557,NM_001145462 YIF1B,YIF1B,YIF1B,YIF1B,YIF1B,YIF1B,YIF1B EXON Missense_P56S,Missense_P39S,Missense_P53S,Missense_P41S,Missense_P53S,Missense_P25S,Missense_P25S exm1462007 19 38817232 [A/G] NM_004823 KCNK6 Silent exm2253809 19 38817264 [A/G] NM_004823 KCNK6 EXON Synonymous_A118A exm1462015 19 38817359 [T/C] NM_004823 KCNK6 EXON Missense_T150I exm1462020 19 38817407 [C/G] NM_004823 KCNK6 EXON Missense_R166P exm1462032 19 38817565 [A/G] NM_004823 KCNK6 EXON Missense_D219N exm1462037 19 38817628 [A/G] NM_004823 KCNK6 EXON Missense_V240I exm1462039 19 38817876 [A/G] NM_004823 KCNK6 EXON Missense_V259M exm1462043 19 38817923 [A/G] NM_004823 KCNK6 EXON Synonymous_P274P exm2253810 19 38817923 [A/G] NM_004823 KCNK6 EXON Synonymous_P274P exm1462044 19 38817943 [T/C] NM_004823 KCNK6 EXON Missense_A281V exm1462059 19 38818035 [T/C] NM_004823 KCNK6 EXON Missense_P312S exm1462061 19 38827960 [T/C] NM_021185 CATSPERG EXON Missense_L29P exm1462081 19 38837157 [T/A] NM_021185 CATSPERG EXON Missense_Q246L exm1462087 19 38845439 [T/C] NM_021185 CATSPERG EXON Missense_L363F exm1462093 19 38847156 [T/C] NM_021185 CATSPERG EXON Nonsense_Q390X exm1462109 19 38850153 [T/G] NM_021185 CATSPERG EXON Nonsense_E514X exm1462122 19 38851247 [A/C] NM_021185 CATSPERG EXON Missense_T576N exm1462131 19 38851453 [A/C] NM_021185 CATSPERG EXON Missense_H617P exm1462132 19 38851455 [A/C] NM_021185 CATSPERG EXON Missense_T618P exm1462139 19 38852346 [A/G] NM_021185 CATSPERG EXON Missense_S647G exm1462140 19 38852357 [T/G] NM_021185 CATSPERG EXON Missense_S650R exm1462142 19 38852383 [T/G] NM_021185 CATSPERG EXON Missense_R659L exm1462158 19 38853067 [A/G] NM_021185 CATSPERG EXON Missense_I737V exm1462159 19 38853076 [A/G] NM_021185 CATSPERG EXON Missense_D740N exm1935455 19 38853095 [A/G] NM_021185 CATSPERG EXON Missense_Y746C exm1935468 19 38855602 [T/G] NM_021185 CATSPERG EXON Missense_M849I exm1462178 19 38857811 [T/C] NM_021185 CATSPERG EXON Missense_P877S exm1462187 19 38857910 [A/G] NM_021185 CATSPERG EXON Missense_V910I exm1462202 19 38858394 [T/C] NM_021185 CATSPERG EXON Missense_R970C exm1462203 19 38858395 [A/G] NM_021185 CATSPERG EXON Missense_R970H exm1462209 19 38858711 [T/C] NM_021185 CATSPERG EXON Missense_T985M exm1462213 19 38858761 [A/G] NM_021185 CATSPERG EXON Missense_E1002K exm1462226 19 38861178 [A/G] NM_021185 CATSPERG EXON Missense_V1076M exm1462229 19 38861208 [A/G] NM_021185 CATSPERG EXON Missense_A1086T exm1935493 19 38861242 [T/G] NM_021185 CATSPERG EXON Missense_G1097V exm1462237 19 38861362 [T/C] NM_021185 CATSPERG EXON Missense_M1137T exm1462238 19 38861397 [T/C] NM_021185 CATSPERG EXON Missense_P1149S exm1462240 19 38861412 [T/G] NM_021185 CATSPERG EXON Nonsense_E1154X exm1462248 19 38865417 [A/C] NM_002812 PSMD8 EXON Missense_A59D exm1462262 19 38867031 [A/G] NM_002812 PSMD8 EXON Missense_R158H exm1462271 19 38869984 [A/G] NM_002812 PSMD8 EXON Missense_R214Q exm1462298 19 38875159 [A/G] NM_152657 GGN EXON Missense_S618P exm1462308 19 38876170 [G/C] NM_152657 GGN EXON Missense_R578G exm1462310 19 38876202 [T/C] NM_152657 GGN EXON Missense_S567N exm1462312 19 38876263 [T/C] NM_152657 GGN EXON Missense_G547S exm1462322 19 38876352 [A/G] NM_152657 GGN EXON Missense_A517V exm1462334 19 38876586 [T/G] NM_152657 GGN EXON Missense_P439Q exm1462339 19 38876619 [T/C] NM_152657 GGN EXON Missense_R428H exm1462342 19 38876688 [T/C] NM_152657 GGN EXON Missense_R405K exm1462363 19 38877168 [A/G] NM_152657 GGN EXON Missense_I245T exm1935528 19 38877754 [A/G] NM_152657 GGN EXON Missense_W50R exm1462413 19 38885024 [T/G] NM_001042522,NR_073032 SPRED3,SPRED3 EXON Silent,Silent exm1462416 19 38885397 [A/C] NM_001042522,NR_073032 SPRED3,SPRED3 EXON Missense_P180T,Silent exm1462444 19 38894307 [A/G] NM_174905 FAM98C EXON Missense_E108K exm1462446 19 38895593 [A/G] NM_174905 FAM98C EXON Missense_R132H exm1462447 19 38895677 [T/C] NM_174905 FAM98C EXON Missense_T160I exm1462451 19 38896042 [T/C] NM_174905 FAM98C EXON Missense_S205L exm1462454 19 38896059 [T/C] NM_174905 FAM98C EXON Missense_W211R exm1462456 19 38896204 [T/G] NM_174905 FAM98C EXON Missense_C227G exm1462458 19 38896216 [T/C] NM_174905 FAM98C EXON Missense_L231F exm1462461 19 38896244 [A/C] NM_174905 FAM98C EXON Missense_T240K exm1462462 19 38897548 [A/C] NM_174905 FAM98C Silent exm1462464 19 38897589 [T/C] NM_174905 FAM98C EXON Nonsense_R264X exm1462467 19 38897643 [T/C] NM_174905 FAM98C EXON Nonsense_R282X exm1462468 19 38897658 [T/C] NM_174905 FAM98C EXON Missense_C287R exm1935553 19 38897674 [A/C] NM_174905 FAM98C EXON Missense_T292N exm1462476 19 38899459 [G/C] NM_174905 FAM98C EXON Missense_W329C exm1462477 19 38899492 [T/A] NM_174905 FAM98C EXON Nonsense_C340X exm1462478 19 38899499 [T/C] NM_174905 FAM98C EXON Missense_R343C exm1462479 19 38899517 [T/A] NM_174905 FAM98C EXON Nonsense_K349X exm1935558 19 38900728 [G/C] NM_001146202,NM_001146204,NM_001146205,NM_001146203,NM_001146206,NM_170604,NM_001146207 RASGRP4,RASGRP4,RASGRP4,RASGRP4,RASGRP4,RASGRP4,RASGRP4 EXON Missense_C644W,Missense_C589W,Missense_C624W,Missense_C566W,Missense_C469W,Missense_C658W,Missense_C561W exm1462486 19 38901527 [A/G] NM_001146202,NM_001146204,NM_001146205,NM_001146203,NM_001146206,NM_170604,NM_001146207 RASGRP4,RASGRP4,RASGRP4,RASGRP4,RASGRP4,RASGRP4,RASGRP4 EXON Missense_T641M,Missense_T586M,Missense_T621M,Missense_T563M,Missense_T466M,Missense_T655M,Missense_T558M exm1462491 19 38901578 [T/C] NM_001146202,NM_001146204,NM_001146205,NM_001146203,NM_001146206,NM_170604,NM_001146207 RASGRP4,RASGRP4,RASGRP4,RASGRP4,RASGRP4,RASGRP4,RASGRP4 EXON Missense_R624H,Missense_R569H,Missense_R604H,Missense_R546H,Missense_R449H,Missense_R638H,Missense_R541H exm1462496 19 38901633 [T/C] NM_001146202,NM_001146204,NM_001146205,NM_001146203,NM_001146206,NM_170604,NM_001146207 RASGRP4,RASGRP4,RASGRP4,RASGRP4,RASGRP4,RASGRP4,RASGRP4 EXON Missense_E606K,Missense_E551K,Missense_E586K,Missense_E528K,Missense_E431K,Missense_E620K,Missense_E523K exm1462500 19 38901812 [T/C] NM_001146202,NM_001146204,NM_001146205,NM_001146203,NM_001146206,NM_170604,NM_001146207 RASGRP4,RASGRP4,RASGRP4,RASGRP4,RASGRP4,RASGRP4,RASGRP4 EXON Missense_D585N,Missense_D530N,Missense_D565N,Missense_D507N,Missense_D410N,Missense_D599N,Missense_D502N exm1462505 19 38901994 [A/G] NM_001146202,NM_001146204,NM_001146205,NM_001146203,NM_001146206,NM_170604,NM_001146207 RASGRP4,RASGRP4,RASGRP4,RASGRP4,RASGRP4,RASGRP4,RASGRP4 EXON Missense_R556C,Missense_R501C,Missense_R536C,Missense_R478C,Missense_R381C,Missense_R570C,Missense_R473C exm1462509 19 38903578 [A/G] NM_001146202,NM_001146204,NM_001146205,NM_001146203,NM_001146206,NM_170604,NM_001146207 RASGRP4,RASGRP4,RASGRP4,RASGRP4,RASGRP4,RASGRP4,RASGRP4 EXON Missense_R496C,Missense_R441C,Missense_R476C,Missense_R418C,Missense_R321C,Missense_R510C,Missense_R413C exm1462512 19 38903659 [A/G] NM_001146202,NM_001146204,NM_001146205,NM_001146203,NM_001146206,NM_170604,NM_001146207 RASGRP4,RASGRP4,RASGRP4,RASGRP4,RASGRP4,RASGRP4,RASGRP4 EXON Nonsense_R469X,Nonsense_R414X,Nonsense_R449X,Nonsense_R391X,Nonsense_R294X,Nonsense_R483X,Nonsense_R386X exm1462542 19 38905715 [C/G] NM_001146202,NM_001146204,NM_001146205,NM_001146203,NM_001146206,NM_170604,NM_001146207 RASGRP4,RASGRP4,RASGRP4,RASGRP4,RASGRP4,RASGRP4,RASGRP4 EXON Missense_R321G,Silent,Missense_R301G,Silent,Silent,Missense_R335G,Missense_R238G exm1462549 19 38909078 [T/G] NM_001146202,NM_001146204,NM_001146205,NM_001146203,NM_001146206,NM_170604,NM_001146207 RASGRP4,RASGRP4,RASGRP4,RASGRP4,RASGRP4,RASGRP4,RASGRP4 EXON Missense_P250T,Missense_P264T,Missense_P230T,Missense_P264T,Silent,Missense_P264T,Silent exm1462556 19 38910501 [A/G] NM_001146202,NM_001146204,NM_001146205,NM_001146203,NM_001146206,NM_170604,NM_001146207 RASGRP4,RASGRP4,RASGRP4,RASGRP4,RASGRP4,RASGRP4,RASGRP4 EXON Missense_T207M,Missense_T221M,Missense_T221M,Missense_T221M,Missense_T221M,Missense_T221M,Missense_T221M exm1462564 19 38910787 [T/C] NM_001146202,NM_001146204,NM_001146205,NM_001146203,NM_001146206,NM_170604,NM_001146207 RASGRP4,RASGRP4,RASGRP4,RASGRP4,RASGRP4,RASGRP4,RASGRP4 EXON Missense_G165R,Missense_G165R,Missense_G165R,Missense_G165R,Missense_G165R,Missense_G165R,Missense_G165R exm1462570 19 38911760 [T/C] NM_001146202,NM_001146204,NM_001146205,NM_001146203,NM_001146206,NM_170604,NM_001146207 RASGRP4,RASGRP4,RASGRP4,RASGRP4,RASGRP4,RASGRP4,RASGRP4 EXON Missense_D97N,Missense_D97N,Missense_D97N,Missense_D97N,Missense_D97N,Missense_D97N,Missense_D97N exm1462571 19 38911763 [T/C] NM_001146202,NM_001146204,NM_001146205,NM_001146203,NM_001146206,NM_170604,NM_001146207 RASGRP4,RASGRP4,RASGRP4,RASGRP4,RASGRP4,RASGRP4,RASGRP4 EXON Missense_A96T,Missense_A96T,Missense_A96T,Missense_A96T,Missense_A96T,Missense_A96T,Missense_A96T exm1462573 19 38911818 [G/C] NM_001146202,NM_001146204,NM_001146205,NM_001146203,NM_001146206,NM_170604,NM_001146207 RASGRP4,RASGRP4,RASGRP4,RASGRP4,RASGRP4,RASGRP4,RASGRP4 EXON Missense_H77Q,Missense_H77Q,Missense_H77Q,Missense_H77Q,Missense_H77Q,Missense_H77Q,Missense_H77Q exm1462574 19 38912609 [T/C] NM_001146202,NM_001146204,NM_001146205,NM_001146203,NM_001146206,NM_170604,NM_001146207 RASGRP4,RASGRP4,RASGRP4,RASGRP4,RASGRP4,RASGRP4,RASGRP4 EXON Missense_D70N,Missense_D70N,Missense_D70N,Missense_D70N,Missense_D70N,Missense_D70N,Missense_D70N exm1462582 19 38912764 [A/G] NM_001146202,NM_001146204,NM_001146205,NM_001146203,NM_001146206,NM_170604,NM_001146207 RASGRP4,RASGRP4,RASGRP4,RASGRP4,RASGRP4,RASGRP4,RASGRP4 EXON Missense_I18T,Missense_I18T,Missense_I18T,Missense_I18T,Missense_I18T,Missense_I18T,Missense_I18T exm1462583 19 38912778 [T/A] NM_001146202,NM_001146204,NM_001146205,NM_001146203,NM_001146206,NM_170604,NM_001146207 RASGRP4,RASGRP4,RASGRP4,RASGRP4,RASGRP4,RASGRP4,RASGRP4 EXON Missense_E13D,Missense_E13D,Missense_E13D,Missense_E13D,Missense_E13D,Missense_E13D,Missense_E13D exm1462592 19 38931418 [A/G] NM_001042723,NM_000540 RYR1,RYR1 EXON Missense_V27M,Missense_V27M exm1462593 19 38931428 [A/T] NM_001042723,NM_000540 RYR1,RYR1 EXON Missense_E30V,Missense_E30V exm1462594 19 38931433 [T/C] NM_001042723,NM_000540 RYR1,RYR1 EXON Missense_L32F,Missense_L32F exm1462616 19 38934807 [T/C] NM_001042723,NM_000540 RYR1,RYR1 EXON Missense_T148I,Missense_T148I exm1462624 19 38935300 [C/G] NM_001042723,NM_000540 RYR1,RYR1 EXON Missense_C205S,Missense_C205S exm1462636 19 38939039 [A/G] NM_001042723,NM_000540 RYR1,RYR1 EXON Missense_R282Q,Missense_R282Q exm1462638 19 38939066 [T/C] NM_001042723,NM_000540 RYR1,RYR1 EXON Missense_A291V,Missense_A291V exm2253811 19 38939091 [C/G] NM_001042723,NM_000540 RYR1,RYR1 EXON Synonymous_V299V,Synonymous_V299V exm1462668 19 38945887 [A/G] NM_001042723,NM_000540 RYR1,RYR1 EXON Missense_M485V,Missense_M485V exm1462672 19 38946112 [A/G] NM_001042723,NM_000540 RYR1,RYR1 EXON Missense_R533H,Missense_R533H exm1462696 19 38948881 [A/G] NM_001042723,NM_000540 RYR1,RYR1 EXON Missense_V706I,Missense_V706I exm1462699 19 38948887 [A/G] NM_001042723,NM_000540 RYR1,RYR1 EXON Missense_D708N,Missense_D708N exm1462708 19 38949893 [A/G] NM_001042723,NM_000540 RYR1,RYR1 EXON Missense_N759D,Missense_N759D exm1462714 19 38949938 [A/G] NM_001042723,NM_000540 RYR1,RYR1 EXON Missense_G774R,Missense_G774R exm1935667 19 38951020 [A/G] NM_001042723,NM_000540 RYR1,RYR1 EXON Missense_R789Q,Missense_R789Q exm1462725 19 38951142 [T/C] NM_001042723,NM_000540 RYR1,RYR1 EXON Missense_R830W,Missense_R830W exm1462732 19 38951199 [A/G] NM_001042723,NM_000540 RYR1,RYR1 EXON Missense_D849N,Missense_D849N exm1462738 19 38954130 [T/C] NM_001042723,NM_000540 RYR1,RYR1 EXON Missense_A882V,Missense_A882V exm1462743 19 38954162 [A/G] NM_001042723,NM_000540 RYR1,RYR1 EXON Missense_G893S,Missense_G893S exm1462748 19 38954391 [A/G] NM_001042723,NM_000540 RYR1,RYR1 EXON Missense_R896Q,Missense_R896Q exm1462752 19 38954471 [A/G] NM_001042723,NM_000540 RYR1,RYR1 EXON Missense_M923V,Missense_M923V exm1462756 19 38955362 [T/C] NM_001042723,NM_000540 RYR1,RYR1 EXON Missense_T957M,Missense_T957M exm1462763 19 38956793 [T/C] NM_001042723,NM_000540 RYR1,RYR1 EXON Missense_P978L,Missense_P978L exm1462765 19 38956816 [T/C] NM_001042723,NM_000540 RYR1,RYR1 EXON Missense_R986C,Missense_R986C exm1462777 19 38956955 [A/G] NM_001042723,NM_000540 RYR1,RYR1 EXON Missense_R1032H,Missense_R1032H exm1462792 19 38958397 [A/G] NM_001042723,NM_000540 RYR1,RYR1 EXON Missense_R1109K,Missense_R1109K exm1935685 19 38959687 [A/G] NM_001042723,NM_000540 RYR1,RYR1 EXON Missense_T1155A,Missense_T1155A exm1462805 19 38959729 [A/C] NM_001042723,NM_000540 RYR1,RYR1 EXON Missense_M1169L,Missense_M1169L exm1462824 19 38964277 [A/C] NM_001042723,NM_000540 RYR1,RYR1 EXON Missense_S1342R,Missense_S1342R exm1462827 19 38964290 [A/G] NM_001042723,NM_000540 RYR1,RYR1 EXON Missense_G1347S,Missense_G1347S exm1462828 19 38964306 [G/C] NM_001042723,NM_000540 RYR1,RYR1 EXON Missense_A1352G,Missense_A1352G exm1462853 19 38966089 [T/C] NM_001042723,NM_000540 RYR1,RYR1 EXON Missense_T1431M,Missense_T1431M exm1462856 19 38968362 [A/G] NM_001042723,NM_000540 RYR1,RYR1 EXON Missense_V1436M,Missense_V1436M exm1462863 19 38968461 [T/C] NM_001042723,NM_000540 RYR1,RYR1 EXON Missense_R1469W,Missense_R1469W exm1462870 19 38973933 [A/G] NM_001042723,NM_000540 RYR1,RYR1 EXON Missense_I1571V,Missense_I1571V exm2253812 19 38973941 [A/G] NM_001042723,NM_000540 RYR1,RYR1 EXON Synonymous_P1573P,Synonymous_P1573P exm1462871 19 38973941 [A/G] NM_001042723,NM_000540 RYR1,RYR1 EXON Synonymous_P1573P,Synonymous_P1573P exm1462876 19 38973985 [T/C] NM_001042723,NM_000540 RYR1,RYR1 EXON Missense_P1588L,Missense_P1588L exm1462882 19 38974116 [T/C] NM_001042723,NM_000540 RYR1,RYR1 EXON Missense_P1632S,Missense_P1632S exm1462889 19 38976274 [G/C] NM_001042723,NM_000540 RYR1,RYR1 EXON Missense_R1660P,Missense_R1660P exm1462891 19 38976294 [T/C] NM_001042723,NM_000540 RYR1,RYR1 EXON Missense_R1667C,Missense_R1667C exm1462892 19 38976295 [A/G] NM_001042723,NM_000540 RYR1,RYR1 EXON Missense_R1667H,Missense_R1667H exm1462896 19 38976331 [A/G] NM_001042723,NM_000540 RYR1,RYR1 EXON Missense_R1679H,Missense_R1679H exm1462915 19 38976655 [T/C] NM_001042723,NM_000540 RYR1,RYR1 EXON Missense_P1787L,Missense_P1787L exm2253813 19 38979891 [A/G] NM_001042723,NM_000540 RYR1,RYR1 EXON Synonymous_E1874E,Synonymous_E1874E exm1462930 19 38979903 [C/G] NM_001042723,NM_000540 RYR1,RYR1 EXON Missense_E1878D,Missense_E1878D exm1462945 19 38981268 [T/C] NM_001042723,NM_000540 RYR1,RYR1 EXON Missense_M2008T,Missense_M2008T exm1462950 19 38983180 [T/G] NM_001042723,NM_000540 RYR1,RYR1 EXON Missense_G2060C,Missense_G2060C exm1462987 19 38987106 [T/C] NM_001042723,NM_000540 RYR1,RYR1 EXON Nonsense_R2241X,Nonsense_R2241X exm1462999 19 38989817 [A/G] NM_001042723,NM_000540 RYR1,RYR1 EXON Missense_I2321V,Missense_I2321V exm1463002 19 38989881 [A/G] NM_001042723,NM_000540 RYR1,RYR1 EXON Missense_N2342S,Missense_N2342S exm1463003 19 38989882 [T/C] NM_001042723,NM_000540 RYR1,RYR1 EXON Synonymous_N2342N,Synonymous_N2342N exm1463018 19 38990562 [T/C] NM_001042723,NM_000540 RYR1,RYR1 EXON Missense_P2410L,Missense_P2410L exm1463019 19 38990577 [A/G] NM_001042723,NM_000540 RYR1,RYR1 EXON Missense_R2415Q,Missense_R2415Q exm1463028 19 38991271 [T/C] NM_001042723,NM_000540 RYR1,RYR1 EXON Missense_A2450V,Missense_A2450V exm1463032 19 38991355 [A/C] NM_001042723,NM_000540 RYR1,RYR1 EXON Missense_T2478N,Missense_T2478N exm1463044 19 38993163 [C/G] NM_001042723,NM_000540 RYR1,RYR1 EXON Missense_T2544S,Missense_T2544S exm1463059 19 38993528 [A/G] NM_001042723,NM_000540 RYR1,RYR1 EXON Missense_R2615H,Missense_R2615H exm1463069 19 38993586 [A/C] NM_001042723,NM_000540 RYR1,RYR1 EXON Missense_N2634K,Missense_N2634K exm1463075 19 38994909 [T/C] NM_001042723,NM_000540 RYR1,RYR1 EXON Missense_T2659M,Missense_T2659M exm1463093 19 38995965 [T/C] NM_001042723,NM_000540 RYR1,RYR1 EXON Missense_S2776F,Missense_S2776F exm1463095 19 38995998 [C/G] NM_001042723,NM_000540 RYR1,RYR1 EXON Missense_T2787S,Missense_T2787S exm1463103 19 38996459 [A/C] NM_001042723,NM_000540 RYR1,RYR1 EXON Missense_Y2805S,Missense_Y2805S exm1463121 19 38997165 [A/C] NM_001042723,NM_000540 RYR1,RYR1 EXON Missense_K2891Q,Missense_K2891Q exm1463131 19 38998362 [A/G] NM_001042723,NM_000540 RYR1,RYR1 EXON Missense_D2943N,Missense_D2943N exm1463147 19 39002230 [A/G] NM_001042723,NM_000540 RYR1,RYR1 EXON Missense_R3051H,Missense_R3051H exm1463152 19 39002893 [T/C] NM_001042723,NM_000540 RYR1,RYR1 EXON Missense_M3081T,Missense_M3081T exm1463154 19 39002913 [A/G] NM_001042723,NM_000540 RYR1,RYR1 EXON Missense_V3088M,Missense_V3088M exm1463162 19 39003004 [T/C] NM_001042723,NM_000540 RYR1,RYR1 EXON Missense_A3118V,Missense_A3118V exm1463164 19 39003006 [T/C] NM_001042723,NM_000540 RYR1,RYR1 EXON Missense_R3119C,Missense_R3119C exm2229146 19 39005716 [G/C] NM_001042723,NM_000540 RYR1,RYR1 EXON Missense_L3175V,Missense_L3175V exm1463177 19 39006727 [G/C] NM_001042723,NM_000540 RYR1,RYR1 EXON Missense_K3185N,Missense_K3185N exm1463181 19 39006807 [A/G] NM_001042723,NM_000540 RYR1,RYR1 EXON Missense_E3212G,Missense_E3212G exm1463187 19 39008026 [A/G] NM_001042723,NM_000540 RYR1,RYR1 EXON Missense_E3238G,Missense_E3238G exm1463190 19 39008109 [A/C] NM_001042723,NM_000540 RYR1,RYR1 EXON Missense_M3266L,Missense_M3266L exm1463199 19 39009860 [T/C] NM_001042723,NM_000540 RYR1,RYR1 EXON Missense_A3342V,Missense_A3342V exm1463210 19 39010024 [A/G] NM_001042723,NM_000540 RYR1,RYR1 EXON Missense_E3397K,Missense_E3397K exm1463215 19 39010075 [T/C] NM_001042723,NM_000540 RYR1,RYR1 EXON Missense_R3414C,Missense_R3414C exm1463241 19 39016132 [A/G] NM_001042723,NM_000540 RYR1,RYR1 EXON Missense_R3534H,Missense_R3539H exm1463253 19 39018347 [G/C] NM_001042723,NM_000540 RYR1,RYR1 EXON Missense_E3578Q,Missense_E3583Q exm1463264 19 39019242 [C/G] NM_001042723,NM_000540 RYR1,RYR1 EXON Missense_H3642Q,Missense_H3647Q exm1463285 19 39025366 [C/G] NM_001042723,NM_000540 RYR1,RYR1 EXON Missense_Q3751E,Missense_Q3756E exm1463287 19 39025421 [T/C] NM_001042723,NM_000540 RYR1,RYR1 EXON Missense_A3769V,Missense_A3774V exm1463292 19 39026637 [T/C] NM_001042723,NM_000540 RYR1,RYR1 EXON Synonymous_S3834S,Synonymous_S3839S exm1463293 19 39026638 [A/G] NM_001042723,NM_000540 RYR1,RYR1 EXON Missense_V3835I,Missense_V3840I exm1463297 19 39026677 [A/G] NM_001042723,NM_000540 RYR1,RYR1 EXON Missense_E3848K,Missense_E3853K exm1463298 19 39027398 [T/C] NM_001042723,NM_000540 RYR1,RYR1 EXON Missense_R3862C,Missense_R3867C exm1463308 19 39033988 [T/C] NM_001042723,NM_000540 RYR1,RYR1 EXON Synonymous_D3892D,Synonymous_D3897D exm1463317 19 39034191 [A/G] NM_001042723,NM_000540 RYR1,RYR1 EXON Missense_Y3928C,Missense_Y3933C exm1463324 19 39034444 [T/C] NM_001042723,NM_000540 RYR1,RYR1 EXON Missense_H3976Y,Missense_H3981Y exm1463334 19 39038965 [A/G] NM_001042723,NM_000540 RYR1,RYR1 EXON Missense_M4058V,Missense_M4063V exm1463335 19 39038981 [A/G] NM_001042723,NM_000540 RYR1,RYR1 EXON Missense_K4063R,Missense_K4068R exm1463348 19 39052023 [A/G] NM_001042723,NM_000540 RYR1,RYR1 EXON Missense_A4180T,Missense_A4185T exm1463383 19 39057590 [C/G] NM_001042723,NM_000540 RYR1,RYR1 EXON Missense_P4488A,Missense_P4493A exm2229149 19 39057611 [A/G] NM_001042723,NM_000540 RYR1,RYR1 EXON Missense_E4495K,Missense_E4500K exm1463394 19 39058445 [A/G] NM_001042723,NM_000540 RYR1,RYR1 EXON Missense_E4511G,Missense_E4516G exm1463405 19 39062759 [A/C] NM_001042723,NM_000540 RYR1,RYR1 EXON Missense_A4611D,Missense_A4616D exm1935918 19 39062761 [A/G] NM_001042723,NM_000540 RYR1,RYR1 EXON Missense_G4612R,Missense_G4617R exm2253815 19 39062844 [T/G] NM_001042723,NM_000540 RYR1,RYR1 EXON Synonymous_L4639L,Synonymous_L4644L exm1463419 19 39066597 [A/G] NM_001042723,NM_000540 RYR1,RYR1 EXON Missense_R4718H,Missense_R4723H exm1463432 19 39068843 [A/G] NM_001042723,NM_000540 RYR1,RYR1 EXON Missense_N4783S,Missense_N4788S exm1463433 19 39068844 [T/C] NM_001042723,NM_000540 RYR1,RYR1 EXON Synonymous_N4783N,Synonymous_N4788N exm1935931 19 39071100 [A/G] NM_001042723,NM_000540 RYR1,RYR1 EXON Missense_E4863K,Missense_E4868K exm1463480 19 39086580 [A/G] NM_001042600,NM_007181 MAP4K1,MAP4K1 EXON Synonymous_D726D,Synonymous_D726D exm1463485 19 39087026 [T/C] NM_001042600,NM_007181 MAP4K1,MAP4K1 EXON Missense_R681Q,Missense_R681Q exm2253816 19 39087076 [A/G] NM_001042600,NM_007181 MAP4K1,MAP4K1 EXON Synonymous_T664T,Synonymous_T664T exm1463493 19 39087776 [T/C] NM_001042600,NM_007181 MAP4K1,MAP4K1 EXON Synonymous_A613A,Synonymous_A613A exm1463513 19 39096330 [A/G] NM_001042600,NM_007181 MAP4K1,MAP4K1 EXON Missense_M414T,Missense_M414T exm1463524 19 39098766 [A/G] NM_001042600,NM_007181 MAP4K1,MAP4K1 EXON Missense_P351S,Missense_P351S exm1463528 19 39100236 [A/G] NM_001042600,NM_007181 MAP4K1,MAP4K1 EXON Missense_R336W,Missense_R336W exm1463529 19 39100242 [A/G] NM_001042600,NM_007181 MAP4K1,MAP4K1 EXON Missense_C334R,Missense_C334R exm1463533 19 39100308 [T/G] NM_001042600,NM_007181 MAP4K1,MAP4K1 EXON Missense_P312T,Missense_P312T exm1463535 19 39100577 [A/G] NM_001042600,NM_007181 MAP4K1,MAP4K1 EXON Missense_I300T,Missense_I300T exm1463570 19 39108034 [A/G] NM_001042600,NM_007181 MAP4K1,MAP4K1 EXON Missense_R70W,Missense_R70W exm1463593 19 39123127 [A/G] NM_013234 EIF3K EXON Missense_V138I exm1463604 19 39125671 [A/G] NM_013234 EIF3K EXON Missense_S180G exm1463605 19 39125672 [A/G] NM_013234 EIF3K EXON Missense_S180N exm1463609 19 39125705 [C/G] NM_013234 EIF3K EXON Missense_S191T exm2253817 19 39195590 [T/C] NM_004924 ACTN4 EXON Synonymous_N138N exm1463632 19 39196735 [T/C] NM_004924 ACTN4 EXON Missense_P179L exm1463652 19 39207742 [A/G] NM_004924 ACTN4 EXON Missense_R310Q exm1463665 19 39208597 [G/C] NM_004924 ACTN4 EXON Missense_Q392E exm2253818 19 39212311 [T/C] NM_004924 ACTN4 EXON Synonymous_A475A exm1463723 19 39218649 [A/G] NM_004924 ACTN4 EXON Missense_V801M exm1936147 19 39220006 [A/C] NM_004924 ACTN4 EXON Missense_D890E exm1463747 19 39220016 [A/G] NM_004924 ACTN4 EXON Missense_G894S exm1463769 19 39221785 [T/C] NM_144691 CAPN12 EXON Missense_R679Q exm1463773 19 39221801 [A/G] NM_144691 CAPN12 EXON Missense_R674C exm1463775 19 39221822 [A/G] NM_144691 CAPN12 EXON Missense_R667C exm1463776 19 39221828 [T/G] NM_144691 CAPN12 EXON Missense_T665P exm1936159 19 39224844 [A/G] NM_144691 CAPN12 EXON Missense_H606Y exm1463795 19 39224961 [T/C] NM_144691 CAPN12 EXON Missense_G605R exm1463797 19 39224983 [A/C] NM_144691 CAPN12 EXON Missense_C597W exm1463810 19 39225486 [A/G] NM_144691 CAPN12 EXON Missense_L571F exm1463815 19 39226036 [A/G] NM_144691 CAPN12 EXON Nonsense_Q554X exm1463846 19 39227202 [A/C] NM_144691 CAPN12 EXON Missense_I455S exm2253819 19 39227889 [T/C] NM_144691 CAPN12 EXON Synonymous_K423K exm2253820 19 39228188 [A/G] NM_144691 CAPN12 EXON Synonymous_G352G exm1463867 19 39228244 [T/C] NM_144691 CAPN12 EXON Missense_T334A exm1463872 19 39228950 [T/C] NM_144691 CAPN12 EXON Missense_D310N exm1463875 19 39228965 [A/G] NM_144691 CAPN12 EXON Missense_P305S exm1463878 19 39229089 [A/G] NM_144691 CAPN12 EXON Missense_C287R exm1463884 19 39229273 [A/T] NM_144691 CAPN12 EXON Missense_Y249N exm1463888 19 39230735 [A/G] NM_144691 CAPN12 EXON Missense_R229C exm1463890 19 39230789 [T/C] NM_144691 CAPN12 EXON Missense_V211M exm1463891 19 39230791 [C/G] NM_144691 CAPN12 EXON Missense_G210A exm1463895 19 39230833 [T/C] NM_144691 CAPN12 EXON Missense_R196Q exm1463897 19 39230852 [T/C] NM_144691 CAPN12 EXON Missense_G190S exm1463900 19 39232457 [T/C] NM_144691 CAPN12 EXON Missense_N174D exm1463902 19 39232463 [A/G] NM_144691 CAPN12 EXON Nonsense_Q172X exm1463904 19 39232475 [T/C] NM_144691 CAPN12 EXON Missense_V168M exm1936203 19 39233121 [A/G] NM_144691 CAPN12 EXON Missense_R119W exm1463913 19 39233142 [T/C] NM_144691 CAPN12 EXON Missense_A112T exm1936206 19 39233726 [A/G] NM_144691 CAPN12 EXON Missense_P85L exm1463925 19 39234589 [T/C] NM_144691 CAPN12 EXON Missense_V73M exm1463932 19 39234681 [A/G] NM_144691 CAPN12 EXON Missense_S42L exm1463935 19 39234723 [T/C] NM_144691 CAPN12 EXON Missense_R28Q exm1463940 19 39234765 [A/T] NM_144691 CAPN12 EXON Missense_D14V exm1463970 19 39292525 [T/C] NM_006149 LGALS4 EXON Missense_R284H exm1463974 19 39292666 [T/G] NM_006149 LGALS4 EXON Missense_T264N exm1463975 19 39292673 [T/C] NM_006149 LGALS4 EXON Missense_K262E exm1463989 19 39294191 [T/A] NM_006149 LGALS4 EXON Missense_T181S exm1463995 19 39294413 [T/C] NM_006149 LGALS4 EXON Missense_G170E exm1464032 19 39303158 [A/G] NM_006149 LGALS4 EXON Missense_T16M exm1464046 19 39306529 [T/C] NM_001398 ECH1 EXON Missense_D284N exm1464048 19 39306538 [A/T] NM_001398 ECH1 EXON Missense_Y281N exm1464059 19 39306940 [T/C] NM_001398 ECH1 EXON Missense_G239S exm1464063 19 39307103 [T/C] NM_001398 ECH1 EXON Missense_G217R exm1936255 19 39307735 [G/C] NM_001398 ECH1 EXON Nonsense_Y186X exm1464097 19 39322045 [T/C] NM_001398 ECH1 EXON Missense_Y55C exm1464099 19 39322087 [T/G] NM_001398 ECH1 EXON Missense_E41A exm1464152 19 39331195 [T/G] NM_001533,NM_001005335 HNRNPL,HNRNPL EXON Missense_D295E,Missense_D162E exm1464195 19 39361302 [A/G] NM_001195833,NM_198445 RINL,RINL EXON Missense_T311I,Missense_T197I exm1464197 19 39361377 [A/G] NM_001195833,NM_198445 RINL,RINL EXON Missense_A286V,Missense_A172V exm1464203 19 39361481 [T/A] NM_001195833,NM_198445 RINL,RINL EXON Missense_E251D,Missense_E137D exm1464207 19 39361578 [C/G] NM_001195833,NM_198445 RINL,RINL EXON Missense_P219R,Missense_P105R exm1464208 19 39361587 [A/G] NM_001195833,NM_198445 RINL,RINL EXON Missense_P216L,Missense_P102L exm2275067 19 39362441 [G/C] NM_001195833,NM_198445 RINL,RINL EXON Missense_S128T,Missense_S14T exm1464228 19 39367066 [T/G] NM_001195833,NM_198445 RINL,RINL EXON Missense_P39T,Silent exm1464229 19 39367111 [T/C] NM_001195833,NM_198445 RINL,RINL EXON Missense_N24D,Silent exm2272788 19 39369369 [T/G] NM_030593,NR_034146,NM_001193286,NM_012237 SIRT2,SIRT2,SIRT2,SIRT2 EXON Silent,Silent,Silent,Silent exm1464240 19 39369898 [A/G] NM_030593,NR_034146,NM_001193286,NM_012237 SIRT2,SIRT2,SIRT2,SIRT2 EXON Missense_S335L,Silent,Silent,Missense_S356L exm2229172 19 39369910 [A/G] NM_030593,NR_034146,NM_001193286,NM_012237 SIRT2,SIRT2,SIRT2,SIRT2 EXON Missense_I331T,Silent,Silent,Missense_I352T exm1464243 19 39369935 [T/G] NM_030593,NR_034146,NM_001193286,NM_012237 SIRT2,SIRT2,SIRT2,SIRT2 EXON Missense_L323I,Silent,Silent,Missense_L344I exm1464252 19 39371459 [A/G] NM_030593,NR_034146,NM_001193286,NM_012237 SIRT2,SIRT2,SIRT2,SIRT2 Silent,Silent,Silent,Silent exm1464260 19 39371790 [T/C] NM_030593,NR_034146,NM_001193286,NM_012237 SIRT2,SIRT2,SIRT2,SIRT2 EXON Missense_V212I,Silent,Missense_V212I,Missense_V233I exm1464265 19 39372104 [T/C] NM_030593,NR_034146,NM_001193286,NM_012237 SIRT2,SIRT2,SIRT2,SIRT2 EXON Missense_K199R,Silent,Missense_K199R,Missense_K220R exm1464272 19 39374306 [T/C] NM_030593,NR_034146,NM_001193286,NM_012237 SIRT2,SIRT2,SIRT2,SIRT2 EXON Missense_A177T,Silent,Missense_A177T,Missense_A198T exm1936359 19 39374378 [A/G] NM_030593,NR_034146,NM_001193286,NM_012237 SIRT2,SIRT2,SIRT2,SIRT2 EXON Nonsense_R153X,Silent,Nonsense_R153X,Nonsense_R174X exm2253822 19 39379730 [T/C] NM_030593,NR_034146,NM_001193286,NM_012237 SIRT2,SIRT2,SIRT2,SIRT2 EXON Synonymous_T145T,Silent,Synonymous_T145T,Synonymous_T166T exm1464278 19 39379770 [T/C] NM_030593,NR_034146,NM_001193286,NM_012237 SIRT2,SIRT2,SIRT2,SIRT2 EXON Missense_R132H,Silent,Missense_R132H,Missense_R153H exm1464284 19 39380358 [T/C] NM_030593,NR_034146,NM_001193286,NM_012237 SIRT2,SIRT2,SIRT2,SIRT2 EXON Missense_A114T,Silent,Missense_A114T,Missense_A135T exm1936366 19 39380364 [A/C] NM_030593,NR_034146,NM_001193286,NM_012237 SIRT2,SIRT2,SIRT2,SIRT2 EXON Missense_A112S,Silent,Missense_A112S,Missense_A133S exm2277161 19 39380364 [T/C] NM_030593,NR_034146,NM_001193286,NM_012237 SIRT2,SIRT2,SIRT2,SIRT2 EXON Missense_A112T,Silent,Missense_A112T,Missense_A133T exm1936370 19 39380538 [T/C] NM_030593,NR_034146,NM_001193286,NM_012237 SIRT2,SIRT2,SIRT2,SIRT2 EXON Missense_H90R,Silent,Missense_H90R,Missense_H111R exm1464295 19 39384060 [T/C] NM_030593,NR_034146,NM_001193286,NM_012237 SIRT2,SIRT2,SIRT2,SIRT2 EXON Missense_E53K,Silent,Missense_E53K,Missense_E74K exm1464306 19 39384491 [G/C] NM_030593,NR_034146,NM_001193286,NM_012237 SIRT2,SIRT2,SIRT2,SIRT2 EXON Missense_S6C,Silent,Missense_S6C,Missense_S27C exm2260861 19 39387919 [T/C] NM_030593,NM_001193286,NM_012237 SIRT2,SIRT2,SIRT2 Silent,Silent,Silent exm1464317 19 39390785 [T/C] NM_001243116,NR_040515,NM_002503 NFKBIB,NFKBIB,NFKBIB EXON Silent,Silent,Missense_A38V exm1464318 19 39390819 [T/C] NM_001243116,NR_040515,NM_002503 NFKBIB,NFKBIB,NFKBIB EXON Silent,Silent,Synonymous_L49L exm1464323 19 39395735 [T/C] NM_001243116,NR_040515,NM_002503 NFKBIB,NFKBIB,NFKBIB EXON Missense_M1T,Silent,Missense_M87T exm1464338 19 39396028 [T/C] NM_001243116,NR_040515,NM_002503 NFKBIB,NFKBIB,NFKBIB EXON Missense_P72S,Silent,Missense_P158S exm1464350 19 39398051 [A/G] NM_001243116,NR_040515,NM_002503 NFKBIB,NFKBIB,NFKBIB EXON Missense_G155S,Silent,Missense_G241S exm1464368 19 39399371 [A/G] NM_001243116,NR_040515,NM_002503 NFKBIB,NFKBIB,NFKBIB EXON Missense_D238N,Silent,Missense_D324N exm1464371 19 39399416 [T/C] NM_001243116,NR_040515,NM_002503 NFKBIB,NFKBIB,NFKBIB EXON Missense_R253W,Silent,Missense_R339W exm1464375 19 39399459 [C/G] NM_001243116,NR_040515,NM_002503 NFKBIB,NFKBIB,NFKBIB EXON Missense_P267R,Silent,Missense_P353R exm1464380 19 39406322 [T/G] NM_001145901,NM_017827 SARS2,SARS2 EXON Missense_T496N,Missense_T494N exm1464393 19 39406732 [T/C] NM_001145901,NM_017827 SARS2,SARS2 EXON Missense_R433H,Missense_R431H exm1464401 19 39408434 [T/C] NM_001145901,NM_017827 SARS2,SARS2 EXON Missense_S366G,Missense_S364G exm1464430 19 39410481 [T/C] NM_001145901,NM_017827 SARS2,SARS2 EXON Missense_R229Q,Missense_R227Q exm1464436 19 39410742 [T/C] NM_001145901,NM_017827 SARS2,SARS2 EXON Missense_D215N,Missense_D213N exm1464450 19 39412201 [A/G] NM_001145901,NM_017827 SARS2,SARS2 EXON Missense_A169V,Missense_A167V exm1464482 19 39421241 [T/C] NM_001145901,NM_017827 SARS2,SARS2 EXON Missense_E46K,Missense_E46K exm1464483 19 39421274 [T/C] NM_001145901,NM_017827 SARS2,SARS2 EXON Missense_T35A,Missense_T35A exm1464487 19 39421360 [A/G] NM_001145901,NM_017827,NM_033362 SARS2,SARS2,MRPS12 EXON Missense_A6V,Missense_A6V,Silent exm1464496 19 39421947 [A/G] NM_033362,NM_033363,NM_021107 MRPS12,MRPS12,MRPS12 EXON Missense_G5S,Missense_G5S,Missense_G5S exm1464497 19 39421957 [A/G] NM_033362,NM_033363,NM_021107 MRPS12,MRPS12,MRPS12 EXON Missense_H8R,Missense_H8R,Missense_H8R exm1464505 19 39423053 [C/G] NM_033362,NM_033363,NM_021107 MRPS12,MRPS12,MRPS12 EXON Missense_R44G,Missense_R44G,Missense_R44G exm1464536 19 39433354 [T/C] NM_024907,NM_148169 FBXO17,FBXO17 EXON Missense_R244H,Missense_R253H exm1464537 19 39433355 [A/G] NM_024907,NM_148169 FBXO17,FBXO17 EXON Missense_R244C,Missense_R253C exm1464540 19 39435613 [T/C] NM_024907,NM_148169 FBXO17,FBXO17 EXON Missense_R230Q,Missense_R239Q exm1464541 19 39435658 [T/G] NM_024907,NM_148169 FBXO17,FBXO17 EXON Nonsense_S215X,Nonsense_S224X exm2275068 19 39435674 [T/C] NM_024907,NM_148169 FBXO17,FBXO17 EXON Missense_E210K,Missense_E219K exm1464552 19 39439208 [T/C] NM_024907,NM_148169 FBXO17,FBXO17 EXON Missense_E154K,Missense_E163K exm1464595 19 39516139 [T/G] NM_178820 FBXO27 EXON Missense_H255P exm1464597 19 39516144 [G/C] NM_178820 FBXO27 EXON Missense_F253L exm1464603 19 39517509 [T/C] NM_178820 FBXO27 Silent exm1464607 19 39517645 [T/C] NM_178820 FBXO27 EXON Nonsense_W191X exm1464613 19 39521738 [T/A] NM_178820 FBXO27 EXON Missense_D168V exm1464621 19 39521939 [A/C] NM_178820 FBXO27 EXON Missense_V129G exm1464643 19 39522817 [A/C] NM_178820 FBXO27 EXON Missense_E17D exm2253823 19 39542969 [A/G] exm2229177 19 39575980 [T/C] NM_001004318 PAPL EXON Missense_S24F exm1936521 19 39575996 [A/C] NM_001004318 PAPL EXON Missense_S29R exm1464651 19 39575997 [A/G] NM_001004318 PAPL EXON Missense_A30T exm-rs472265 19 39580737 [A/G] NM_001004318 PAPL Silent exm1464661 19 39589242 [T/G] NM_001004318 PAPL EXON Missense_R89L exm1464674 19 39589715 [A/C] NM_001004318 PAPL EXON Missense_N146K exm1464678 19 39589762 [A/G] NM_001004318 PAPL EXON Missense_Y162C exm1464684 19 39590868 [A/G] NM_001004318 PAPL EXON Synonymous_G169G exm1464691 19 39591277 [A/G] NM_001004318 PAPL EXON Nonsense_W229X exm1464699 19 39591453 [T/C] NM_001004318 PAPL EXON Missense_L256S exm1464700 19 39591613 [T/C] NM_001004318 PAPL EXON Missense_R278W exm1464705 19 39591653 [A/G] NM_001004318 PAPL EXON Missense_C291Y exm1464711 19 39591796 [A/C] NM_001004318 PAPL EXON Missense_K308Q exm1464713 19 39591829 [T/G] NM_001004318 PAPL EXON Missense_D319Y exm1464765 19 39663662 [C/G] NM_001014832,NM_005884,NM_001014831,NM_001014835,NM_001014834 PAK4,PAK4,PAK4,PAK4,PAK4 EXON Missense_D103E,Missense_D103E,Missense_D103E,Silent,Silent exm1464778 19 39663792 [A/G] NM_001014832,NM_005884,NM_001014831,NM_001014835,NM_001014834 PAK4,PAK4,PAK4,PAK4,PAK4 EXON Missense_G147S,Missense_G147S,Missense_G147S,Silent,Silent exm1464795 19 39664231 [A/G] NM_001014832,NM_005884,NM_001014831,NM_001014835,NM_001014834 PAK4,PAK4,PAK4,PAK4,PAK4 EXON Missense_V227M,Missense_V227M,Missense_V227M,Missense_V74M,Missense_V74M exm1464812 19 39664580 [T/C] NM_001014832,NM_005884,NM_001014831,NM_001014835,NM_001014834 PAK4,PAK4,PAK4,PAK4,PAK4 EXON Missense_S343L,Missense_S343L,Missense_S343L,Missense_S190L,Missense_S190L exm1464817 19 39665689 [T/C] NM_001014832,NM_005884,NM_001014831,NM_001014835,NM_001014834 PAK4,PAK4,PAK4,PAK4,PAK4 EXON Missense_I406T,Missense_I406T,Missense_I406T,Missense_I253T,Missense_I253T exm1464849 19 39669095 [A/G] NM_001014832,NM_005884,NM_001014831,NM_001014835,NM_001014834 PAK4,PAK4,PAK4,PAK4,PAK4 EXON Missense_R551H,Missense_R551H,Missense_R551H,Missense_R398H,Missense_R398H exm1464851 19 39669106 [G/C] NM_001014832,NM_005884,NM_001014831,NM_001014835,NM_001014834 PAK4,PAK4,PAK4,PAK4,PAK4 EXON Missense_R555G,Missense_R555G,Missense_R555G,Missense_R402G,Missense_R402G exm1464855 19 39669136 [A/G] NM_001014832,NM_005884,NM_001014831,NM_001014835,NM_001014834 PAK4,PAK4,PAK4,PAK4,PAK4 EXON Missense_E565K,Missense_E565K,Missense_E565K,Missense_E412K,Missense_E412K exm1464856 19 39669160 [T/G] NM_001014832,NM_005884,NM_001014831,NM_001014835,NM_001014834 PAK4,PAK4,PAK4,PAK4,PAK4 EXON Missense_A573S,Missense_A573S,Missense_A573S,Missense_A420S,Missense_A420S exm1464869 19 39688710 [T/C] NM_001001414 NCCRP1 EXON Missense_P119S exm1464877 19 39689862 [A/G] NM_001001414 NCCRP1 EXON Missense_E169K exm1464878 19 39689877 [A/G] NM_001001414 NCCRP1 EXON Missense_E174K exm1464881 19 39689899 [T/C] NM_001001414 NCCRP1 EXON Missense_M181T exm1464883 19 39690984 [A/G] NM_001001414 NCCRP1 Silent exm1464884 19 39690999 [T/C] NM_001001414 NCCRP1 EXON Missense_R188W exm1936639 19 39691000 [A/G] NM_001001414 NCCRP1 EXON Missense_R188Q exm1464901 19 39691325 [T/C] NM_001001414 NCCRP1 EXON Missense_R253C exm1464918 19 39694627 [T/C] NM_001080468 SYCN EXON Missense_V90M exm1464922 19 39694816 [T/C] NM_001080468 SYCN EXON Missense_A27T exm1464943 19 39734656 [A/G] NM_172139 IFNL3 EXON Missense_R134W exm-rs8099917 19 39743165 [T/G] exm1465010 19 39760263 [G/C] NM_172138 IFNL2 EXON Missense_Q136E exm1465036 19 39787143 [A/G] NM_172140 IFNL1 EXON Missense_T28A exm1465037 19 39787153 [A/G] NM_172140 IFNL1 EXON Missense_G31E exm1465041 19 39787209 [T/C] NM_172140 IFNL1 EXON Missense_F50L exm1465042 19 39787450 [C/G] NM_172140 IFNL1 EXON Missense_E59D exm1465047 19 39788614 [A/G] NM_172140 IFNL1 EXON Missense_R87H exm1936737 19 39788905 [A/G] NM_172140 IFNL1 EXON Nonsense_W149X exm1465062 19 39788913 [T/C] NM_172140 IFNL1 EXON Missense_R152W exm1465067 19 39789115 [A/G] NM_172140 IFNL1 EXON Missense_N188D exm1465068 19 39789119 [T/C] NM_172140 IFNL1 EXON Missense_L189P exm1465099 19 39804773 [A/G] NM_020862 LRFN1 EXON Missense_P402S exm1465126 19 39805513 [A/G] NM_020862 LRFN1 EXON Missense_A155V exm1465134 19 39805871 [T/C] NM_020862 LRFN1 EXON Missense_G36S exm1465137 19 39819121 [T/C] NM_004877 GMFG EXON Missense_R142H exm1465157 19 39823732 [A/G] NM_004877 GMFG EXON Missense_P62L exm1465163 19 39826077 [A/G] NM_004877 GMFG EXON Missense_I33T exm1465166 19 39826131 [T/G] NM_004877 GMFG EXON Missense_T15K exm1465206 19 39860754 [A/G] NM_018028 SAMD4B EXON Missense_N219S exm1465223 19 39868221 [A/G] NM_018028 SAMD4B EXON Missense_V401M exm1465233 19 39868386 [A/G] NM_018028 SAMD4B EXON Missense_T456A exm1465235 19 39868444 [T/A] NM_018028 SAMD4B EXON Missense_F475Y exm1465239 19 39869222 [T/C] NM_018028 SAMD4B EXON Missense_T508I exm1465246 19 39871405 [T/C] NM_018028 SAMD4B EXON Missense_L610F exm1465260 19 39876714 [T/C] NR_046384,NM_019088,NM_001256826 PAF1,PAF1,PAF1 EXON Silent,Missense_S505G,Synonymous_P433P exm1465262 19 39876735 [A/G] NR_046384,NM_019088,NM_001256826 PAF1,PAF1,PAF1 EXON Silent,Missense_R498C,Synonymous_A426A exm1465264 19 39876746 [T/C] NR_046384,NM_019088,NM_001256826 PAF1,PAF1,PAF1 EXON Silent,Missense_R494Q,Missense_G423R exm1465308 19 39879624 [A/G] NR_046384,NM_019088,NM_001256826 PAF1,PAF1,PAF1 EXON Silent,Missense_T200I,Missense_T190I exm1465313 19 39880133 [T/C] NR_046384,NM_019088,NM_001256826 PAF1,PAF1,PAF1 EXON Silent,Missense_T116A,Missense_T106A exm1465325 19 39882034 [A/G] NM_017592 MED29 EXON Missense_N12S exm1465345 19 39884273 [C/G] NM_017592 MED29 EXON Missense_C140S exm1465365 19 39898425 [T/C] NM_003407 ZFP36 EXON Missense_H29Y exm1465366 19 39898467 [T/C] NM_003407 ZFP36 EXON Missense_P43S exm2275069 19 39898882 [A/C] NM_003407 ZFP36 EXON Missense_P181Q exm1465416 19 39905650 [T/C] NM_022835 PLEKHG2 EXON Missense_M43T exm1465418 19 39905662 [A/G] NM_022835 PLEKHG2 EXON Missense_R47Q exm1465422 19 39905778 [T/C] NM_022835 PLEKHG2 EXON Missense_R86C exm1465423 19 39905794 [T/C] NM_022835 PLEKHG2 EXON Missense_P91L exm1465438 19 39906003 [A/G] NM_022835 PLEKHG2 EXON Missense_G135S exm1465439 19 39906006 [A/G] NM_022835 PLEKHG2 EXON Missense_G136R exm1465441 19 39906040 [T/C] NM_022835 PLEKHG2 EXON Missense_T147M exm1465442 19 39906072 [T/C] NM_022835 PLEKHG2 EXON Missense_F158L exm1465447 19 39907025 [T/G] NM_022835 PLEKHG2 EXON Missense_G173W exm1936913 19 39907031 [A/G] NM_022835 PLEKHG2 EXON Missense_I175V exm1465451 19 39907506 [T/C] NM_022835 PLEKHG2 EXON Missense_R204W exm1465465 19 39908617 [A/G] NM_022835 PLEKHG2 EXON Missense_A319T exm1465467 19 39908657 [T/G] NM_022835 PLEKHG2 EXON Missense_G332V exm1465477 19 39909564 [A/G] NM_022835 PLEKHG2 EXON Missense_N395S exm1465489 19 39911451 [G/C] NM_022835 PLEKHG2 EXON Missense_P453R exm1465494 19 39911624 [T/C] NM_022835 PLEKHG2 EXON Missense_R479C exm1936950 19 39912816 [T/C] NM_022835 PLEKHG2 EXON Missense_A522V exm1465511 19 39912870 [T/C] NM_022835 PLEKHG2 EXON Missense_T540I exm1465514 19 39913373 [T/C] NM_022835 PLEKHG2 EXON Missense_P560L exm2253828 19 39913416 [T/G] NM_022835 PLEKHG2 EXON Synonymous_V574V exm1465520 19 39913558 [A/G] NM_022835 PLEKHG2 EXON Missense_I622V exm1465526 19 39913634 [A/G] NM_022835 PLEKHG2 EXON Missense_R647H exm1465530 19 39913675 [A/G] NM_022835 PLEKHG2 EXON Missense_D661N exm1465543 19 39913894 [A/G] NM_022835 PLEKHG2 EXON Missense_E734K exm1465545 19 39913978 [T/C] NM_022835 PLEKHG2 EXON Missense_R762C exm1465546 19 39914002 [A/G] NM_022835 PLEKHG2 EXON Missense_A770T exm1465551 19 39914077 [A/G] NM_022835 PLEKHG2 EXON Missense_D795N exm1465576 19 39914442 [T/C] NM_022835 PLEKHG2 EXON Missense_S890F exm1465579 19 39914526 [T/A] NM_022835 PLEKHG2 EXON Missense_H918L exm1465581 19 39914567 [A/G] NM_022835 PLEKHG2 EXON Missense_V932I exm1465584 19 39914615 [T/C] NM_022835 PLEKHG2 EXON Nonsense_Q948X exm1936972 19 39914638 [T/G] NM_022835 PLEKHG2 EXON Missense_L955F exm1465595 19 39914678 [G/C] NM_022835 PLEKHG2 EXON Missense_L969V exm1465598 19 39914748 [A/G] NM_022835 PLEKHG2 EXON Missense_R992K exm1465604 19 39914819 [A/G] NM_022835 PLEKHG2 EXON Missense_V1016I exm1465612 19 39915071 [T/C] NM_022835 PLEKHG2 EXON Missense_H1100Y exm1465621 19 39915293 [A/G] NM_022835 PLEKHG2 EXON Missense_G1174S exm1936977 19 39915390 [A/C] NM_022835 PLEKHG2 EXON Missense_A1206D exm1465636 19 39915627 [A/G] NM_022835 PLEKHG2 EXON Missense_Y1285C exm1465638 19 39915650 [T/C] NM_022835 PLEKHG2 EXON Missense_R1293W exm1465639 19 39915651 [A/G] NM_022835 PLEKHG2 EXON Missense_R1293Q exm1465646 19 39915758 [G/C] NM_022835 PLEKHG2 EXON Missense_P1329A exm1465651 19 39915876 [A/G] NM_022835 PLEKHG2 EXON Missense_Q1368R exm1465652 19 39915884 [A/G] NM_022835 PLEKHG2 EXON Missense_M1371V exm1465653 19 39915896 [A/G] NM_022835 PLEKHG2 EXON Missense_R1375G exm1465661 19 39923978 [A/G] NM_001020 RPS16 EXON Missense_R126C exm1465672 19 39926486 [A/G] NM_001020 RPS16 Silent exm2253829 19 39926509 [A/C] NM_001020 RPS16 EXON Synonymous_S9S exm1465728 19 39955643 [T/C] NM_001130825,NM_001130824,NM_001111020,NM_003169 SUPT5H,SUPT5H,SUPT5H,SUPT5H EXON Missense_S273F,Missense_S277F,Missense_S277F,Missense_S277F exm2253830 19 39959745 [C/G] NM_001130825,NM_001130824,NM_001111020,NM_003169 SUPT5H,SUPT5H,SUPT5H,SUPT5H EXON Synonymous_L386L,Synonymous_L390L,Synonymous_L390L,Synonymous_L390L exm1465784 19 39963853 [T/C] NM_001130825,NM_001130824,NM_001111020,NM_003169 SUPT5H,SUPT5H,SUPT5H,SUPT5H EXON Missense_R753C,Missense_R757C,Missense_R757C,Missense_R757C exm1465815 19 39971294 [T/C] NM_001001563 TIMM50 EXON Missense_F37S exm1465816 19 39971304 [T/G] NM_001001563 TIMM50 EXON Missense_Q40H exm1465818 19 39971348 [A/G] NM_001001563 TIMM50 EXON Missense_R55H exm1465821 19 39971401 [T/C] NM_001001563 TIMM50 EXON Missense_P73S exm1465823 19 39971432 [C/G] NM_001001563 TIMM50 EXON Missense_S83T exm1465833 19 39972581 [G/C] NM_001001563 TIMM50 EXON Missense_G159A exm1465836 19 39972614 [T/C] NM_001001563 TIMM50 EXON Missense_A170V exm1465848 19 39976232 [T/A] NM_001001563 TIMM50 EXON Missense_D224V exm1465884 19 39979275 [A/G] NM_001001563 TIMM50 EXON Missense_R420Q exm1465888 19 39980380 [A/G] NM_001001563 TIMM50 EXON Missense_E431K exm1465890 19 39980431 [T/C] NM_001001563 TIMM50 EXON Missense_R448C exm1465891 19 39980440 [T/C] NM_001001563 TIMM50 EXON Missense_P451S exm1465892 19 39980444 [A/G] NM_001001563 TIMM50 EXON Missense_R452H exm1465902 19 39989922 [A/C] NM_203486,NM_016941 DLL3,DLL3 EXON Missense_L54I,Missense_L54I exm1465905 19 39989982 [T/G] NM_203486,NM_016941 DLL3,DLL3 EXON Nonsense_E74X,Nonsense_E74X exm1465926 19 39994711 [T/C] NM_203486,NM_016941 DLL3,DLL3 EXON Missense_L218P,Missense_L218P exm1465930 19 39994732 [A/G] NM_203486,NM_016941 DLL3,DLL3 EXON Missense_S225N,Missense_S225N exm1465931 19 39994735 [G/C] NM_203486,NM_016941 DLL3,DLL3 EXON Missense_P226R,Missense_P226R exm1465938 19 39994863 [A/G] NM_203486,NM_016941 DLL3,DLL3 EXON Missense_G269R,Missense_G269R exm1465939 19 39994896 [A/G] NM_203486,NM_016941 DLL3,DLL3 EXON Missense_G280R,Missense_G280R exm1465960 19 39996064 [T/C] NM_203486,NM_016941 DLL3,DLL3 EXON Missense_R356W,Missense_R356W exm1465961 19 39996089 [A/G] NM_203486,NM_016941 DLL3,DLL3 EXON Missense_N364S,Missense_N364S exm1465972 19 39997969 [A/G] NM_203486,NM_016941 DLL3,DLL3 EXON Missense_A462T,Missense_A462T exm1466006 19 40006156 [T/C] NM_182704 SELV EXON Missense_P102S exm1466022 19 40006628 [T/C] NM_182704 SELV EXON Missense_L259P exm1466025 19 40009270 [T/C] NM_182704 SELV EXON Missense_R278W exm1466028 19 40009396 [A/G] NM_182704 SELV EXON Missense_K284R exm1466048 19 40023202 [A/G] NM_152361 EID2B EXON Missense_P81S exm2253831 19 40030018 [A/G] NM_153232 EID2 EXON Synonymous_N234N exm1466080 19 40030704 [T/C] NM_153232 EID2 EXON Missense_A6T exm1466092 19 40095284 [A/G] NM_013268 LGALS13 EXON Missense_V20M exm1466098 19 40095861 [A/G] NM_013268 LGALS13 EXON Missense_E46K exm1466100 19 40095901 [T/G] NM_013268 LGALS13 EXON Missense_G59V exm1466102 19 40095924 [T/C] NM_013268 LGALS13 EXON Missense_R67C exm1466103 19 40095925 [A/G] NM_013268 LGALS13 EXON Missense_R67H exm1466105 19 40095985 [A/G] NM_013268 LGALS13 EXON Missense_K87R exm1466110 19 40097870 [T/C] NM_013268 LGALS13 EXON Missense_V104A exm1466113 19 40097903 [A/G] NM_013268 LGALS13 EXON Missense_R115Q exm1466114 19 40097909 [T/C] NM_013268 LGALS13 EXON Missense_P117L exm1466116 19 40097959 [T/C] NM_013268 LGALS13 EXON Missense_S134P exm1466119 19 40148584 [T/C] NM_001190441 LGALS16 EXON Missense_L26P exm1466121 19 40149102 [A/G] NM_001190441 LGALS16 EXON Missense_N32S exm1466123 19 40149297 [T/A] NM_001190441 LGALS16 EXON Missense_L97H exm2268195 19 40169328 [A/G] exm1466139 19 40195183 [T/C] NM_020129,NM_203471 LGALS14,LGALS14 EXON Synonymous_P5P,Silent exm1466142 19 40196611 [T/C] NM_020129,NM_203471 LGALS14,LGALS14 EXON Silent,Missense_R22C exm1466144 19 40196627 [A/G] NM_020129,NM_203471 LGALS14,LGALS14 EXON Silent,Missense_R27H exm1466145 19 40197267 [A/G] NM_020129,NM_203471 LGALS14,LGALS14 EXON Missense_V16I,Missense_V45I exm1466151 19 40197838 [T/C] NM_020129,NM_203471 LGALS14,LGALS14 EXON Missense_V38A,Missense_V67A exm1466155 19 40197924 [T/C] NM_020129,NM_203471 LGALS14,LGALS14 EXON Missense_C67R,Missense_C96R exm1466157 19 40197934 [A/G] NM_020129,NM_203471 LGALS14,LGALS14 EXON Missense_G70D,Missense_G99D exm1466164 19 40199901 [T/C] NM_020129,NM_203471 LGALS14,LGALS14 EXON Missense_M123T,Missense_M152T exm1466165 19 40199914 [C/G] NM_020129,NM_203471 LGALS14,LGALS14 EXON Missense_F127L,Missense_F156L exm1466167 19 40199948 [A/G] NM_020129,NM_203471 LGALS14,LGALS14 EXON Missense_D139N,Missense_D168N exm1466180 19 40224952 [T/C] NM_001828 CLC EXON Missense_S92G exm1466182 19 40224985 [T/G] NM_001828 CLC EXON Missense_M81L exm2229211 19 40225022 [C/G] NM_001828 CLC EXON Missense_E68D exm1466185 19 40225031 [G/C] NM_001828 CLC EXON Missense_N65K exm1466186 19 40225044 [A/C] NM_001828 CLC EXON Missense_R61L exm1466187 19 40225045 [A/G] NM_001828 CLC EXON Missense_R61C exm1466196 19 40225646 [A/G] NM_001828 CLC EXON Missense_A28V exm1466213 19 40276707 [A/C] NM_001143832 LEUTX EXON Missense_T147P exm1466216 19 40316422 [T/G] NM_004714,NM_006483,NM_006484 DYRK1B,DYRK1B,DYRK1B EXON Missense_D608A,Missense_D568A,Missense_D580A exm1466218 19 40316461 [T/C] NM_004714,NM_006483,NM_006484 DYRK1B,DYRK1B,DYRK1B EXON Missense_R595Q,Missense_R555Q,Missense_R567Q exm1466223 19 40316513 [A/G] NM_004714,NM_006483,NM_006484 DYRK1B,DYRK1B,DYRK1B EXON Missense_P578S,Missense_P538S,Missense_P550S exm1466237 19 40316846 [T/C] NM_004714,NM_006483,NM_006484 DYRK1B,DYRK1B,DYRK1B EXON Missense_T498A,Missense_T458A,Missense_T470A exm1466246 19 40316909 [A/G] NM_004714,NM_006483,NM_006484 DYRK1B,DYRK1B,DYRK1B EXON Missense_S477P,Missense_S437P,Missense_S449P exm1466265 19 40317965 [G/C] NM_004714,NM_006483,NM_006484 DYRK1B,DYRK1B,DYRK1B EXON Missense_G352A,Missense_G352A,Missense_G352A exm1466281 19 40319076 [A/G] NM_004714,NM_006483,NM_006484 DYRK1B,DYRK1B,DYRK1B EXON Missense_T223M,Missense_T223M,Missense_T223M exm1466284 19 40319125 [A/G] NM_004714,NM_006483,NM_006484 DYRK1B,DYRK1B,DYRK1B EXON Missense_R207C,Missense_R207C,Missense_R207C exm1466304 19 40321178 [T/C] NM_004714,NM_006483,NM_006484 DYRK1B,DYRK1B,DYRK1B EXON Missense_R70Q,Missense_R70Q,Missense_R70Q exm1466310 19 40321404 [A/G] NM_004714,NM_006483,NM_006484 DYRK1B,DYRK1B,DYRK1B EXON Missense_L28P,Missense_L28P,Missense_L28P exm1466311 19 40321407 [T/C] NM_004714,NM_006483,NM_006484 DYRK1B,DYRK1B,DYRK1B EXON Missense_R27Q,Missense_R27Q,Missense_R27Q exm1466346 19 40330874 [A/G] NM_001436 FBL EXON Missense_S126L exm1466354 19 40331117 [A/G] NM_001436 FBL EXON Missense_R74W exm1466356 19 40331128 [T/C] NM_001436 FBL EXON Missense_R70Q exm1466358 19 40331278 [T/C] NM_001436 FBL EXON Missense_G54S exm2229215 19 40331352 [C/G] NM_001436 FBL EXON Missense_G29A exm1466396 19 40354448 [A/G] NM_003890 FCGBP EXON Missense_R5341C exm1466404 19 40357393 [A/G] NM_003890 FCGBP EXON Missense_P5307L exm1466405 19 40357398 [G/C] NM_003890 FCGBP EXON Missense_L5305F exm1466407 19 40357477 [A/G] NM_003890 FCGBP EXON Missense_A5279V exm1466409 19 40357535 [G/C] NM_003890 FCGBP EXON Missense_E5260Q exm1466412 19 40357619 [A/G] NM_003890 FCGBP EXON Missense_R5232C exm1466415 19 40357663 [T/C] NM_003890 FCGBP EXON Missense_R5217H exm1466416 19 40357670 [A/G] NM_003890 FCGBP EXON Missense_P5215S exm1466417 19 40357682 [T/C] NM_003890 FCGBP EXON Missense_A5211T exm1466420 19 40357727 [T/C] NM_003890 FCGBP EXON Missense_E5196K exm1466425 19 40360936 [T/C] NM_003890 FCGBP EXON Missense_D5158N exm1466432 19 40361055 [A/G] NM_003890 FCGBP EXON Missense_P5118L exm1466434 19 40362717 [A/C] NM_003890 FCGBP Silent exm1466435 19 40362718 [A/G] NM_003890 FCGBP EXON Missense_P5118S exm1466436 19 40362774 [A/G] NM_003890 FCGBP EXON Missense_A5099V exm1466441 19 40362841 [T/C] NM_003890 FCGBP EXON Missense_V5077I exm1466450 19 40362946 [A/C] NM_003890 FCGBP EXON Missense_A5042S exm1466453 19 40362992 [G/C] NM_003890 FCGBP EXON Missense_E5026D exm1466456 19 40363020 [A/G] NM_003890 FCGBP EXON Missense_A5017V exm1466463 19 40363129 [A/G] NM_003890 FCGBP EXON Missense_R4981W exm1466466 19 40363221 [T/C] NM_003890 FCGBP EXON Missense_R4950Q exm1466470 19 40363239 [T/C] NM_003890 FCGBP EXON Missense_R4944Q exm1466471 19 40363245 [T/C] NM_003890 FCGBP EXON Missense_R4942H exm1466476 19 40363873 [G/C] NM_003890 FCGBP EXON Missense_Q4923H exm1466477 19 40363883 [T/C] NM_003890 FCGBP EXON Missense_S4920N exm1466478 19 40363902 [T/C] NM_003890 FCGBP EXON Missense_V4914M exm1466479 19 40363916 [T/C] NM_003890 FCGBP EXON Missense_R4909H exm1466480 19 40363917 [T/G] NM_003890 FCGBP EXON Missense_R4909S exm1466481 19 40363926 [C/G] NM_003890 FCGBP EXON Missense_D4906H exm1466498 19 40364169 [T/C] NM_003890 FCGBP EXON Missense_V4825I exm2253833 19 40364230 [A/G] NM_003890 FCGBP EXON Synonymous_G4804G exm1466504 19 40364280 [A/G] NM_003890 FCGBP EXON Missense_P4788S exm1466514 19 40364363 [G/C] NM_003890 FCGBP EXON Nonsense_S4760X exm1466520 19 40364428 [A/C] NM_003890 FCGBP EXON Missense_Q4738H exm1466776 19 40392569 [C/G] NM_003890 FCGBP EXON Missense_S2645R exm1466940 19 40408842 [G/C] NM_003890 FCGBP EXON Missense_G1333R exm1466995 19 40412049 [T/G] NM_003890 FCGBP EXON Missense_H1193Q exm1466999 19 40412098 [A/G] NM_003890 FCGBP EXON Missense_A1177V exm1467001 19 40412125 [T/C] NM_003890 FCGBP EXON Missense_E1168G exm1467003 19 40412129 [A/G] NM_003890 FCGBP EXON Missense_H1167Y exm2276639 19 40412150 [G/C] NM_003890 FCGBP EXON Missense_G1160R exm1467004 19 40412179 [A/G] NM_003890 FCGBP EXON Missense_P1150L exm1937504 19 40419672 [T/C] NM_003890 FCGBP EXON Missense_A1108T exm1467015 19 40419710 [T/C] NM_003890 FCGBP EXON Missense_R1095H exm1467017 19 40419728 [T/C] NM_003890 FCGBP EXON Missense_R1089H exm1467018 19 40419732 [T/C] NM_003890 FCGBP EXON Missense_V1088M exm1467032 19 40419939 [T/C] NM_003890 FCGBP EXON Missense_G1019R exm1467033 19 40419945 [A/G] NM_003890 FCGBP EXON Missense_R1017W exm1467034 19 40419972 [T/C] NM_003890 FCGBP EXON Missense_G1008R exm1467037 19 40420083 [T/C] NM_003890 FCGBP EXON Missense_V971M exm1467039 19 40420097 [A/C] NM_003890 FCGBP EXON Missense_G966V exm1467045 19 40421306 [T/C] NM_003890 FCGBP EXON Missense_Y872C exm1467050 19 40421408 [T/G] NM_003890 FCGBP EXON Missense_K838T exm1467058 19 40421642 [T/G] NM_003890 FCGBP EXON Missense_T760N exm1467060 19 40423979 [A/G] NM_003890 FCGBP EXON Missense_P742S exm1467061 19 40424008 [A/G] NM_003890 FCGBP EXON Missense_V732A exm1467074 19 40424221 [A/G] NM_003890 FCGBP EXON Missense_T661I exm1467078 19 40424269 [T/C] NM_003890 FCGBP EXON Missense_G645E exm1467094 19 40424530 [T/C] NM_003890 FCGBP EXON Missense_R558H exm2253836 19 40427903 [A/C] NM_003890 FCGBP Silent exm1467106 19 40430459 [A/G] NM_003890 FCGBP EXON Missense_S495L exm1467123 19 40432968 [T/C] NM_003890 FCGBP EXON Missense_R434Q exm1467142 19 40433352 [T/C] NM_003890 FCGBP EXON Missense_Y306C exm1467143 19 40433371 [A/G] NM_003890 FCGBP EXON Missense_R300W exm1467145 19 40433397 [T/G] NM_003890 FCGBP EXON Missense_A291E exm1467150 19 40433467 [T/C] NM_003890 FCGBP EXON Missense_V268I exm1467157 19 40433583 [A/G] NM_003890 FCGBP EXON Missense_A229V exm1467160 19 40433670 [A/G] NM_003890 FCGBP EXON Missense_V200A exm1937548 19 40433893 [C/G] NM_003890 FCGBP EXON Missense_D126H exm1467183 19 40440482 [T/G] NM_003890 FCGBP EXON Missense_T15N exm2260862 19 40447257 [T/C] exm1467203 19 40480235 [T/C] NM_006503,NM_153001 PSMC4,PSMC4 EXON Synonymous_I119I,Synonymous_I88I exm2253837 19 40480235 [T/C] NM_006503,NM_153001 PSMC4,PSMC4 EXON Synonymous_I119I,Synonymous_I88I exm1937589 19 40485978 [T/C] NM_006503,NM_153001 PSMC4,PSMC4 EXON Synonymous_A281A,Synonymous_A250A exm2253838 19 40486301 [T/C] NM_006503,NM_153001 PSMC4,PSMC4 EXON Synonymous_L343L,Synonymous_L312L exm2229226 19 40502943 [A/C] NM_178544 ZNF546 EXON Silent exm1467242 19 40513191 [T/C] NM_178544 ZNF546 EXON Missense_A61V exm1467266 19 40519935 [T/C] NM_178544 ZNF546 EXON Missense_A253V exm1937621 19 40520568 [C/G] NM_178544 ZNF546 EXON Missense_T464S exm1467301 19 40520685 [G/C] NM_178544 ZNF546 EXON Missense_G503A exm1467310 19 40520801 [T/C] NM_178544 ZNF546 EXON Nonsense_R542X exm1467317 19 40520908 [T/G] NM_178544 ZNF546 EXON Missense_S577R exm1467334 19 40521143 [T/C] NM_178544 ZNF546 EXON Missense_H656Y exm1467336 19 40521168 [A/C] NM_178544 ZNF546 EXON Missense_P664H exm1467340 19 40521203 [T/C] NM_178544 ZNF546 EXON Missense_R676W exm1467357 19 40521623 [T/C] NM_178544 ZNF546 EXON Missense_R816C exm1467360 19 40521669 [A/G] NM_178544 ZNF546 EXON Missense_E831G exm1467366 19 40540401 [A/C] NM_001005851 ZNF780B EXON Missense_A789S exm1467369 19 40540560 [A/G] NM_001005851 ZNF780B EXON Missense_L736F exm1467370 19 40540572 [T/C] NM_001005851 ZNF780B EXON Missense_K732E exm1467374 19 40540616 [T/C] NM_001005851 ZNF780B EXON Missense_R717Q exm1467381 19 40540697 [A/G] NM_001005851 ZNF780B EXON Missense_T690I exm1467382 19 40540724 [A/C] NM_001005851 ZNF780B EXON Missense_V681G exm1467384 19 40540749 [A/C] NM_001005851 ZNF780B EXON Nonsense_E673X exm1467413 19 40541324 [T/G] NM_001005851 ZNF780B EXON Missense_A481D exm1467425 19 40541514 [G/C] NM_001005851 ZNF780B EXON Missense_E418Q exm1467434 19 40541744 [T/G] NM_001005851 ZNF780B EXON Missense_A341D exm1467435 19 40541778 [T/C] NM_001005851 ZNF780B EXON Missense_E330K exm1467444 19 40541914 [T/G] NM_001005851 ZNF780B EXON Missense_K284N exm1467458 19 40542386 [C/G] NM_001005851 ZNF780B EXON Missense_R127T exm1467459 19 40542426 [T/C] NM_001005851 ZNF780B EXON Missense_E114K exm1467477 19 40554705 [T/C] NM_001005851 ZNF780B Silent exm1467493 19 40580506 [T/A] NM_001142579,NM_001010880,NM_001142577,NM_001142578 ZNF780A,ZNF780A,ZNF780A,ZNF780A EXON Silent,Missense_C615S,Missense_C616S,Missense_C615S exm1467514 19 40580943 [T/C] NM_001142579,NM_001010880,NM_001142577,NM_001142578 ZNF780A,ZNF780A,ZNF780A,ZNF780A EXON Silent,Missense_G469D,Missense_G470D,Missense_G469D exm1467544 19 40581765 [T/C] NM_001142579,NM_001010880,NM_001142577,NM_001142578 ZNF780A,ZNF780A,ZNF780A,ZNF780A EXON Silent,Missense_C195Y,Missense_C196Y,Missense_C195Y exm1467557 19 40582039 [A/T] NM_001142579,NM_001010880,NM_001142577,NM_001142578 ZNF780A,ZNF780A,ZNF780A,ZNF780A EXON Silent,Missense_I104L,Missense_I105L,Missense_I104L exm1467559 19 40582086 [A/G] NM_001142579,NM_001010880,NM_001142577,NM_001142578 ZNF780A,ZNF780A,ZNF780A,ZNF780A EXON Missense_V104A,Missense_V88A,Missense_V89A,Missense_V88A exm1467582 19 40698254 [C/G] NM_002446 MAP3K10 EXON Missense_V106L exm1467588 19 40698441 [A/C] NM_002446 MAP3K10 EXON Missense_P168Q exm1467613 19 40710490 [T/C] NM_002446 MAP3K10 EXON Missense_T321M exm1467631 19 40712030 [A/G] NM_002446 MAP3K10 EXON Synonymous_L467L exm2253839 19 40712030 [A/G] NM_002446 MAP3K10 EXON Synonymous_L467L exm1467637 19 40715058 [A/G] NM_002446 MAP3K10 EXON Missense_R495Q exm2253841 19 40719959 [T/C] NM_002446 MAP3K10 EXON Synonymous_T791T exm1467698 19 40720883 [A/G] NM_002446 MAP3K10 EXON Missense_R850H exm1467699 19 40720903 [T/C] NM_002446 MAP3K10 EXON Missense_R857C exm1467715 19 40721113 [A/G] NM_002446 MAP3K10 EXON Missense_V927M exm1467733 19 40729096 [C/G] NM_024877 CNTD2 EXON Missense_D263H exm1467753 19 40730639 [A/C] NM_024877 CNTD2 EXON Missense_V116G exm1467757 19 40732283 [A/G] NM_024877 CNTD2 EXON Missense_M89T exm1467766 19 40732460 [T/C] NM_024877 CNTD2 EXON Missense_S30N exm1467786 19 40741857 [A/G] NM_001626,NM_001243027,NM_001243028 AKT2,AKT2,AKT2 EXON Missense_T372M,Missense_T310M,Missense_T310M exm1467793 19 40741964 [T/C] NM_001626,NM_001243027,NM_001243028 AKT2,AKT2,AKT2 EXON Synonymous_L336L,Synonymous_L274L,Synonymous_L274L exm1467797 19 40742179 [T/C] NM_001626,NM_001243027,NM_001243028 AKT2,AKT2,AKT2 EXON Synonymous_E315E,Synonymous_E253E,Synonymous_E253E exm1467818 19 40745968 [T/C] NM_001626,NM_001243027,NM_001243028 AKT2,AKT2,AKT2 EXON Missense_R208K,Missense_R146K,Missense_R146K exm1467836 19 40761140 [T/C] NM_001626,NM_001243027,NM_001243028 AKT2,AKT2,AKT2 EXON Missense_N71S,Missense_N9S,Missense_N9S exm1467841 19 40762860 [T/G] NM_001626,NM_001243027,NM_001243028 AKT2,AKT2,AKT2 EXON Missense_P50T,Silent,Silent exm1467843 19 40762915 [A/G] NM_001626,NM_001243027,NM_001243028 AKT2,AKT2,AKT2 EXON Synonymous_S31S,Silent,Silent exm1467882 19 40827881 [A/G] NR_046202,NM_001256440,NM_001256441 C19orf47,C19orf47,C19orf47 EXON Silent,Missense_R393W,Missense_R356W exm1467896 19 40828045 [G/C] NR_046202,NM_001256440,NM_001256441 C19orf47,C19orf47,C19orf47 EXON Silent,Missense_S338C,Missense_S301C exm1467897 19 40828048 [T/C] NR_046202,NM_001256440,NM_001256441 C19orf47,C19orf47,C19orf47 EXON Silent,Missense_R337Q,Missense_R300Q exm1467901 19 40828082 [A/C] NR_046202,NM_001256440,NM_001256441 C19orf47,C19orf47,C19orf47 EXON Silent,Missense_A326S,Missense_A289S exm1467910 19 40828238 [T/C] NR_046202,NM_001256440,NM_001256441 C19orf47,C19orf47,C19orf47 EXON Silent,Missense_E274K,Missense_E237K exm1937797 19 40828239 [A/G] NR_046202,NM_001256440,NM_001256441 C19orf47,C19orf47,C19orf47 EXON Silent,Synonymous_D273D,Synonymous_D236D exm1467913 19 40829926 [A/G] NR_046202,NM_001256440,NM_001256441 C19orf47,C19orf47,C19orf47 EXON Silent,Missense_T254M,Missense_T217M exm1467923 19 40832264 [A/G] NR_046202,NM_001256440,NM_001256441 C19orf47,C19orf47,C19orf47 EXON Silent,Missense_L227P,Missense_L190P exm1467938 19 40834394 [T/C] NR_046202,NM_001256440,NM_001256441 C19orf47,C19orf47,C19orf47 EXON Silent,Missense_R159H,Missense_R122H exm1467947 19 40839793 [G/C] NR_046202,NM_001256440,NM_001256441 C19orf47,C19orf47,C19orf47 EXON Silent,Missense_S126T,Missense_S89T exm1467963 19 40872764 [A/G] NM_001031696,NM_012268 PLD3,PLD3 EXON Missense_G63S,Missense_G63S exm1937827 19 40875874 [C/G] NM_001031696,NM_012268 PLD3,PLD3 EXON Missense_I163M,Missense_I163M exm1467991 19 40876029 [A/G] NM_001031696,NM_012268 PLD3,PLD3 EXON Missense_R188H,Missense_R188H exm1467999 19 40877595 [A/G] NM_001031696,NM_012268 PLD3,PLD3 EXON Missense_V232M,Missense_V232M exm1468005 19 40877715 [T/C] NM_001031696,NM_012268 PLD3,PLD3 EXON Missense_R272C,Missense_R272C exm1468007 19 40877752 [A/G] NM_001031696,NM_012268 PLD3,PLD3 EXON Missense_N284S,Missense_N284S exm1468012 19 40880407 [A/G] NM_001031696,NM_012268 PLD3,PLD3 EXON Missense_C300Y,Missense_C300Y exm1468038 19 40883962 [A/G] NM_001031696,NM_012268 PLD3,PLD3 EXON Missense_G452E,Missense_G452E exm1468043 19 40884037 [A/G] NM_001031696,NM_012268 PLD3,PLD3 EXON Missense_D477G,Missense_D477G exm1468056 19 40885586 [A/G] NM_144685 HIPK4 EXON Missense_R587W exm1937849 19 40885598 [T/C] NM_144685 HIPK4 EXON Missense_V583I exm1468061 19 40886295 [A/G] NM_144685 HIPK4 EXON Missense_P535S exm1468064 19 40886340 [T/C] NM_144685 HIPK4 EXON Missense_G520S exm1468069 19 40886406 [T/C] NM_144685 HIPK4 EXON Missense_D498N exm1468072 19 40886457 [A/G] NM_144685 HIPK4 EXON Missense_R481C exm1468075 19 40886492 [A/G] NM_144685 HIPK4 EXON Missense_S469L exm1937855 19 40886586 [T/C] NM_144685 HIPK4 EXON Missense_G438R exm1468083 19 40886637 [T/C] NM_144685 HIPK4 EXON Missense_G421S exm1468086 19 40886673 [T/C] NM_144685 HIPK4 EXON Missense_G409S exm1468087 19 40886680 [A/C] NM_144685 HIPK4 EXON Missense_S406R exm1468090 19 40886704 [C/G] NM_144685 HIPK4 EXON Missense_E398D exm1468096 19 40886756 [A/G] NM_144685 HIPK4 EXON Missense_T381M exm1468099 19 40886783 [A/G] NM_144685 HIPK4 EXON Missense_S372L exm2277162 19 40886987 [A/G] NM_144685 HIPK4 EXON Missense_T304I exm1468113 19 40886993 [T/C] NM_144685 HIPK4 EXON Missense_R302Q exm1468115 19 40887009 [T/C] NM_144685 HIPK4 EXON Missense_G297S exm1468120 19 40889694 [A/G] NM_144685 HIPK4 EXON Missense_T273M exm1468123 19 40889743 [T/C] NM_144685 HIPK4 EXON Missense_A257T exm1468131 19 40890001 [T/C] NM_144685 HIPK4 EXON Missense_V171M exm1468152 19 40895493 [A/G] NM_144685 HIPK4 EXON Missense_A106V exm1468178 19 40899893 [C/G] NM_181882,NM_020956 PRX,PRX EXON Missense_A1456P,Silent exm1468185 19 40899994 [T/C] NM_181882,NM_020956 PRX,PRX EXON Missense_R1422Q,Silent exm1468192 19 40900129 [T/C] NM_181882,NM_020956 PRX,PRX EXON Missense_R1377H,Silent exm2253845 19 40900299 [A/G] NM_181882,NM_020956 PRX,PRX EXON Synonymous_A1320A,Silent exm1468210 19 40900457 [C/G] NM_181882,NM_020956 PRX,PRX EXON Missense_A1268P,Silent exm1468219 19 40900586 [T/C] NM_181882,NM_020956 PRX,PRX EXON Missense_V1225M,Silent exm1468225 19 40900763 [A/G] NM_181882,NM_020956 PRX,PRX EXON Missense_P1166S,Silent exm1468227 19 40900837 [A/G] NM_181882,NM_020956 PRX,PRX EXON Missense_A1141V,Silent exm1468229 19 40900865 [T/C] NM_181882,NM_020956 PRX,PRX EXON Missense_G1132R,Silent exm1468233 19 40900886 [T/C] NM_181882,NM_020956 PRX,PRX EXON Missense_G1125S,Silent exm1468235 19 40900913 [A/C] NM_181882,NM_020956 PRX,PRX EXON Missense_V1116L,Silent exm1937898 19 40900984 [A/C] NM_181882,NM_020956 PRX,PRX EXON Missense_V1092G,Silent exm1468238 19 40901011 [G/C] NM_181882,NM_020956 PRX,PRX EXON Missense_P1083R,Silent exm1468241 19 40901041 [T/C] NM_181882,NM_020956 PRX,PRX EXON Missense_E1073G,Silent exm1468242 19 40901050 [T/C] NM_181882,NM_020956 PRX,PRX EXON Missense_R1070Q,Silent exm1937900 19 40901114 [T/C] NM_181882,NM_020956 PRX,PRX EXON Missense_G1049S,Silent exm1468246 19 40901149 [T/C] NM_181882,NM_020956 PRX,PRX EXON Missense_E1037G,Silent exm1468258 19 40901496 [T/C] NM_181882,NM_020956 PRX,PRX EXON Missense_I921M,Silent exm1468261 19 40901531 [T/C] NM_181882,NM_020956 PRX,PRX EXON Missense_A910T,Silent exm1468274 19 40901711 [G/C] NM_181882,NM_020956 PRX,PRX EXON Missense_P850A,Silent exm1468281 19 40901810 [A/G] NM_181882,NM_020956 PRX,PRX EXON Missense_R817C,Silent exm1468296 19 40902005 [T/C] NM_181882,NM_020956 PRX,PRX EXON Missense_E752K,Silent exm1937908 19 40902158 [T/C] NM_181882,NM_020956 PRX,PRX EXON Missense_V701M,Silent exm1468306 19 40902242 [T/C] NM_181882,NM_020956 PRX,PRX EXON Missense_M673V,Silent exm1468311 19 40902295 [A/G] NM_181882,NM_020956 PRX,PRX EXON Missense_P655L,Silent exm2229247 19 40902341 [T/G] NM_181882,NM_020956 PRX,PRX EXON Missense_K640Q,Silent exm1468328 19 40902608 [T/C] NM_181882,NM_020956 PRX,PRX EXON Missense_V551M,Silent exm1468344 19 40902862 [A/G] NM_181882,NM_020956 PRX,PRX EXON Missense_P466L,Silent exm1937920 19 40902890 [T/C] NM_181882,NM_020956 PRX,PRX EXON Missense_E457K,Silent exm1468346 19 40902977 [T/C] NM_181882,NM_020956 PRX,PRX EXON Missense_G428R,Silent exm1468375 19 40903540 [T/C] NM_181882,NM_020956 PRX,PRX EXON Missense_R240Q,Silent exm1468388 19 40903760 [A/G] NM_181882,NM_020956 PRX,PRX EXON Missense_R167C,Silent exm1468391 19 40903814 [T/C] NM_181882,NM_020956 PRX,PRX EXON Missense_A149T,Silent exm1468422 19 40913812 [C/G] NM_181882,NM_020956 PRX,PRX Silent,Silent exm1468446 19 40929204 [T/C] NM_013376 SERTAD1 EXON Missense_A84T exm1468448 19 40929212 [T/A] NM_013376 SERTAD1 EXON Missense_M81K exm1468451 19 40929341 [A/G] NM_013376 SERTAD1 EXON Missense_P38L exm1468454 19 40929363 [T/C] NM_013376 SERTAD1 EXON Missense_T31A exm2273572 19 40947076 [A/G] NM_013368,NM_203344 SERTAD3,SERTAD3 EXON Silent,Silent exm1937942 19 40947696 [T/C] NM_013368,NM_203344 SERTAD3,SERTAD3 EXON Missense_I98V,Missense_I98V exm1468473 19 40947750 [T/C] NM_013368,NM_203344 SERTAD3,SERTAD3 EXON Missense_E80K,Missense_E80K exm2253847 19 40947865 [G/C] NM_013368,NM_203344 SERTAD3,SERTAD3 EXON Synonymous_V41V,Synonymous_V41V exm1468500 19 40957312 [T/G] NM_000713 BLVRB EXON Missense_E141A exm1468501 19 40957316 [G/C] NM_000713 BLVRB EXON Missense_R140G exm1468503 19 40957370 [A/G] NM_000713 BLVRB EXON Missense_P122S exm1468506 19 40964064 [A/G] NM_000713 BLVRB EXON Missense_S111L exm1468508 19 40964121 [T/C] NM_000713 BLVRB EXON Missense_R92Q exm1468509 19 40964125 [T/C] NM_000713 BLVRB EXON Missense_A91T exm1468523 19 40964395 [T/C] NM_000713 BLVRB EXON Missense_R46Q exm1468528 19 40964447 [T/C] NM_000713 BLVRB EXON Missense_E29K exm1468549 19 40978640 [A/G] NM_020971 SPTBN4 EXON Missense_A38T exm1468550 19 40978643 [T/G] NM_020971 SPTBN4 EXON Missense_A39S exm1468579 19 41003463 [T/C] NM_020971 SPTBN4 EXON Missense_R246C exm1468580 19 41003491 [T/C] NM_020971 SPTBN4 EXON Missense_A255V exm1468588 19 41008068 [T/A] NM_020971 SPTBN4 EXON Missense_I311L exm1468591 19 41008192 [T/C] NM_020971 SPTBN4 EXON Missense_T352M exm1468615 19 41009968 [A/G] NM_020971 SPTBN4 EXON Missense_E532K exm2253850 19 41025368 [A/G] NM_020971 SPTBN4 EXON Synonymous_L988L exm1468681 19 41025981 [A/G] NM_020971 SPTBN4 EXON Missense_E1193K exm1468698 19 41035017 [G/C] NM_020971 SPTBN4 EXON Missense_H1309Q exm1468702 19 41038574 [A/G] NM_020971,NM_025213 SPTBN4,SPTBN4 EXON Missense_G1331S,Missense_G7S exm1468710 19 41038676 [T/C] NM_020971,NM_025213 SPTBN4,SPTBN4 EXON Missense_R1365W,Missense_R41W exm1468715 19 41040035 [T/C] NM_020971,NM_025213 SPTBN4,SPTBN4 EXON Missense_R1382W,Missense_R58W exm1468727 19 41056172 [T/C] NM_020971,NM_025213 SPTBN4,SPTBN4 EXON Missense_A1538V,Missense_A214V exm2229259 19 41056229 [A/G] NM_020971,NM_025213 SPTBN4,SPTBN4 EXON Missense_N1557S,Missense_N233S exm1468766 19 41063227 [G/C] NM_020971,NM_025213 SPTBN4,SPTBN4 EXON Missense_P1863R,Missense_P539R exm1468772 19 41063263 [A/G] NM_020971,NM_025213 SPTBN4,SPTBN4 EXON Missense_R1875Q,Missense_R551Q exm1468775 19 41063301 [A/G] NM_020971,NM_025213 SPTBN4,SPTBN4 EXON Missense_V1888M,Missense_V564M exm1468798 19 41071430 [A/G] NM_020971 SPTBN4 EXON Missense_R2006Q exm1468837 19 41075628 [T/C] NM_020971 SPTBN4 EXON Missense_A2341V exm1468858 19 41078042 [C/G] NM_020971 SPTBN4 EXON Missense_K2479N exm1468890 19 41084106 [T/C] NM_138392 SHKBP1 EXON Missense_L103F exm1468897 19 41086245 [A/G] NM_138392 SHKBP1 EXON Missense_R139Q exm1468898 19 41086248 [A/G] NM_138392 SHKBP1 EXON Missense_R140Q exm1938086 19 41086528 [A/G] NM_138392 SHKBP1 EXON Missense_A207T exm2253851 19 41086539 [T/C] NM_138392 SHKBP1 EXON Synonymous_Y210Y exm1468912 19 41086539 [T/C] NM_138392 SHKBP1 EXON Synonymous_Y210Y exm1468920 19 41086717 [A/G] NM_138392 SHKBP1 EXON Missense_R240Q exm1468921 19 41086723 [G/C] NM_138392 SHKBP1 EXON Missense_A242G exm1468925 19 41086819 [T/C] NM_138392 SHKBP1 EXON Missense_A274V exm1468937 19 41089390 [C/G] NM_138392 SHKBP1 EXON Synonymous_V349V exm1468942 19 41089557 [A/G] NM_138392 SHKBP1 EXON Missense_E367K exm1468945 19 41092767 [C/G] NM_138392 SHKBP1 EXON Missense_S418W exm1938098 19 41094563 [G/C] NM_138392 SHKBP1 EXON Missense_S457C exm1468977 19 41096310 [A/G] NM_138392 SHKBP1 EXON Missense_G584S exm1468980 19 41096696 [T/C] NM_138392 SHKBP1 EXON Missense_P610L exm1468994 19 41097024 [T/C] NM_138392 SHKBP1 EXON Missense_R679W exm1469007 19 41105395 [T/C] NM_003573,NM_001042544 LTBP4,LTBP4 EXON Missense_P55S,Missense_P92S exm1469026 19 41110974 [T/C] NM_003573,NM_001042544,NM_001042545 LTBP4,LTBP4,LTBP4 EXON Missense_V125A,Missense_V162A,Missense_V95A exm1469029 19 41111069 [A/G] NM_003573,NM_001042544,NM_001042545 LTBP4,LTBP4,LTBP4 EXON Missense_V157I,Missense_V194I,Missense_V127I exm1469040 19 41112159 [T/G] NM_003573,NM_001042544,NM_001042545 LTBP4,LTBP4,LTBP4 EXON Missense_A302S,Missense_A339S,Missense_A272S exm1469058 19 41114269 [A/T] NM_003573,NM_001042544,NM_001042545 LTBP4,LTBP4,LTBP4 EXON Missense_S464T,Missense_S501T,Missense_S434T exm1469059 19 41114407 [T/C] NM_003573,NM_001042544,NM_001042545 LTBP4,LTBP4,LTBP4 EXON Missense_R472C,Missense_R509C,Missense_R442C exm1469080 19 41117072 [A/G] NM_003573,NM_001042544,NM_001042545 LTBP4,LTBP4,LTBP4 EXON Missense_T639A,Missense_T676A,Missense_T609A exm1469081 19 41117081 [G/C] NM_003573,NM_001042544,NM_001042545 LTBP4,LTBP4,LTBP4 EXON Missense_P642A,Missense_P679A,Missense_P612A exm1469084 19 41117129 [T/C] NM_003573,NM_001042544,NM_001042545 LTBP4,LTBP4,LTBP4 EXON Missense_R658C,Missense_R695C,Missense_R628C exm1469086 19 41117142 [T/C] NM_003573,NM_001042544,NM_001042545 LTBP4,LTBP4,LTBP4 EXON Missense_P662L,Missense_P699L,Missense_P632L exm1469094 19 41117300 [A/G] NM_003573,NM_001042544,NM_001042545 LTBP4,LTBP4,LTBP4 EXON Missense_D715N,Missense_D752N,Missense_D685N exm1469100 19 41117851 [A/G] NM_003573,NM_001042544,NM_001042545 LTBP4,LTBP4,LTBP4 EXON Missense_M744V,Missense_M781V,Missense_M714V exm1469103 19 41117887 [G/C] NM_003573,NM_001042544,NM_001042545 LTBP4,LTBP4,LTBP4 EXON Missense_E756Q,Missense_E793Q,Missense_E726Q exm1469108 19 41118056 [A/G] NM_003573,NM_001042544,NM_001042545 LTBP4,LTBP4,LTBP4 EXON Missense_T783A,Missense_T820A,Missense_T753A exm1469123 19 41119881 [C/G] NM_003573,NM_001042544,NM_001042545 LTBP4,LTBP4,LTBP4 EXON Missense_G903R,Missense_G940R,Missense_G873R exm1469128 19 41120305 [C/G] NM_003573,NM_001042544,NM_001042545 LTBP4,LTBP4,LTBP4 EXON Missense_R952P,Missense_R989P,Missense_R922P exm1469132 19 41122891 [G/C] NM_003573,NM_001042544,NM_001042545 LTBP4,LTBP4,LTBP4 EXON Missense_P1000R,Missense_P1037R,Missense_P970R exm1469147 19 41125310 [T/C] NM_003573,NM_001042544,NM_001042545 LTBP4,LTBP4,LTBP4 EXON Missense_S1073L,Missense_S1110L,Missense_S1043L exm1469148 19 41125313 [A/G] NM_003573,NM_001042544,NM_001042545 LTBP4,LTBP4,LTBP4 EXON Missense_K1074R,Missense_K1111R,Missense_K1044R exm1469149 19 41125331 [T/C] NM_003573,NM_001042544,NM_001042545 LTBP4,LTBP4,LTBP4 EXON Missense_S1080F,Missense_S1117F,Missense_S1050F exm2253853 19 41127465 [T/C] NM_003573,NM_001042544,NM_001042545 LTBP4,LTBP4,LTBP4 Silent,Silent,Silent exm1469161 19 41128415 [A/G] NM_003573,NM_001042544,NM_001042545 LTBP4,LTBP4,LTBP4 EXON Nonsense_W1139X,Nonsense_W1176X,Nonsense_W1109X exm1469162 19 41128426 [A/G] NM_003573,NM_001042544,NM_001042545 LTBP4,LTBP4,LTBP4 EXON Missense_A1143T,Missense_A1180T,Missense_A1113T exm1469165 19 41128457 [A/G] NM_003573,NM_001042544,NM_001042545 LTBP4,LTBP4,LTBP4 EXON Missense_R1153Q,Missense_R1190Q,Missense_R1123Q exm1469170 19 41128535 [T/C] NM_003573,NM_001042544,NM_001042545 LTBP4,LTBP4,LTBP4 EXON Missense_A1179V,Missense_A1216V,Missense_A1149V exm1469172 19 41128559 [A/G] NM_003573,NM_001042544,NM_001042545 LTBP4,LTBP4,LTBP4 EXON Missense_R1187Q,Missense_R1224Q,Missense_R1157Q exm1469193 19 41131793 [A/G] NM_003573,NM_001042544,NM_001042545 LTBP4,LTBP4,LTBP4 EXON Nonsense_W1318X,Nonsense_W1355X,Nonsense_W1288X exm1469194 19 41131805 [T/C] NM_003573,NM_001042544,NM_001042545 LTBP4,LTBP4,LTBP4 EXON Missense_S1322L,Missense_S1359L,Missense_S1292L exm1469197 19 41131837 [T/C] NM_003573,NM_001042544,NM_001042545 LTBP4,LTBP4,LTBP4 EXON Missense_P1333S,Missense_P1370S,Missense_P1303S exm1469205 19 41133005 [A/G] NM_003573,NM_001042544,NM_001042545 LTBP4,LTBP4,LTBP4 EXON Missense_M1400I,Missense_M1437I,Missense_M1370I exm1469211 19 41133102 [A/G] NM_003573,NM_001042544,NM_001042545 LTBP4,LTBP4,LTBP4 EXON Missense_A1433T,Missense_A1470T,Missense_A1403T exm1469219 19 41133643 [T/C] NM_003573,NM_001042544,NM_001042545 LTBP4,LTBP4,LTBP4 EXON Missense_R1497W,Missense_R1534W,Missense_R1467W exm1469220 19 41133653 [T/C] NM_003573,NM_001042544,NM_001042545 LTBP4,LTBP4,LTBP4 EXON Missense_A1500V,Missense_A1537V,Missense_A1470V exm1469237 19 41135376 [T/C] NM_003573,NM_001042544,NM_001042545 LTBP4,LTBP4,LTBP4 EXON Missense_P1562S,Missense_P1599S,Missense_P1532S exm1469238 19 41135385 [A/G] NM_003573,NM_001042544,NM_001042545 LTBP4,LTBP4,LTBP4 EXON Missense_A1565T,Missense_A1602T,Missense_A1535T exm1938168 19 41173387 [T/C] NM_004756 NUMBL EXON Missense_E606K exm1469247 19 41173458 [A/G] NM_004756 NUMBL EXON Missense_A582V exm1469255 19 41173692 [T/C] NM_004756 NUMBL EXON Missense_R504Q exm1469263 19 41173804 [T/C] NM_004756 NUMBL EXON Missense_V467M exm1469287 19 41175899 [T/C] NM_004756 NUMBL EXON Missense_G355S exm1469297 19 41179456 [A/C] NM_004756 NUMBL EXON Missense_A277S exm1469371 19 41198211 [T/C] NM_001142555,NM_024876 ADCK4,ADCK4 EXON Missense_Y414C,Missense_Y455C exm1469382 19 41198923 [A/T] NM_001142555,NM_024876 ADCK4,ADCK4 EXON Missense_D369V,Missense_D410V exm1469385 19 41201894 [T/C] NM_001142555,NM_024876 ADCK4,ADCK4 EXON Synonymous_E362E,Synonymous_E403E exm1469391 19 41206060 [G/C] NM_001142555,NM_024876 ADCK4,ADCK4 EXON Missense_T311R,Missense_T352R exm1469395 19 41206297 [A/G] NM_001142555,NM_024876 ADCK4,ADCK4 EXON Missense_T277M,Missense_T318M exm1469401 19 41208572 [G/C] NM_001142555,NM_024876 ADCK4,ADCK4 EXON Missense_A235P,Missense_A276P exm1938228 19 41209521 [T/C] NM_001142555,NM_024876 ADCK4,ADCK4 EXON Missense_G201S,Missense_G242S exm1469413 19 41209646 [T/C] NM_001142555,NM_024876 ADCK4,ADCK4 EXON Missense_G190R,Missense_G231R exm1469415 19 41209688 [T/C] NM_001142555,NM_024876 ADCK4,ADCK4 EXON Missense_A176T,Missense_A217T exm1469426 19 41211056 [T/C] NM_001142555,NM_024876 ADCK4,ADCK4 EXON Missense_H133R,Missense_H174R exm1469427 19 41211057 [A/G] NM_001142555,NM_024876 ADCK4,ADCK4 EXON Missense_H133Y,Missense_H174Y exm1469428 19 41211076 [T/G] NM_001142555,NM_024876 ADCK4,ADCK4 EXON Missense_F126L,Missense_F167L exm1469438 19 41215987 [A/G] NM_001142555,NM_024876 ADCK4,ADCK4 EXON Missense_M115T,Missense_M115T exm1469450 19 41220518 [T/C] NM_001142555,NM_024876 ADCK4,ADCK4 EXON Missense_G7D,Missense_G7D exm1938244 19 41223347 [A/G] NM_025194 ITPKC EXON Missense_G103R exm1469464 19 41223387 [T/A] NM_025194 ITPKC EXON Missense_D116V exm1469467 19 41223435 [A/G] NM_025194 ITPKC EXON Missense_E132G exm1469468 19 41223467 [A/G] NM_025194 ITPKC EXON Missense_D143N exm1469473 19 41223576 [A/G] NM_025194 ITPKC EXON Missense_H179R exm1469479 19 41223761 [T/C] NM_025194 ITPKC EXON Missense_W241R exm1469480 19 41223769 [T/G] NM_025194 ITPKC EXON Missense_E243D exm1938250 19 41223836 [A/G] NM_025194 ITPKC EXON Missense_G266S exm1469499 19 41224132 [C/G] NM_025194 ITPKC EXON Missense_D364E exm1469506 19 41231300 [T/C] NM_025194 ITPKC EXON Missense_S404F exm1469507 19 41231312 [A/G] NM_025194 ITPKC EXON Missense_H408R exm1469511 19 41235134 [A/G] NM_025194 ITPKC EXON Missense_R428Q exm2275070 19 41239223 [T/C] NM_025194 ITPKC EXON Missense_T543I exm1469520 19 41239241 [T/C] NM_025194 ITPKC EXON Missense_T549I exm1469531 19 41243601 [A/G] NM_025194 ITPKC Silent exm1469556 19 41248549 [A/G] NM_198476 C19orf54 EXON Missense_P282L exm1469558 19 41248583 [A/G] NM_198476 C19orf54 EXON Missense_C271R exm2253854 19 41249853 [T/C] NM_198476 C19orf54 EXON Synonymous_P225P exm1469571 19 41249996 [A/G] NM_198476 C19orf54 EXON Missense_V208A exm1469578 19 41250481 [A/T] NM_198476 C19orf54 EXON Missense_Q167L exm1469582 19 41250583 [T/C] NM_198476 C19orf54 EXON Missense_G133E exm1469587 19 41251098 [T/C] NM_198476 C19orf54 EXON Missense_R110Q exm1469597 19 41255705 [T/C] NM_198476 C19orf54 EXON Missense_T2A exm1469608 19 41263315 [T/C] NM_004596 SNRPA EXON Missense_M51T exm1469652 19 41281482 [T/C] NM_001202553,NM_006533,NR_037775 MIA,MIA,MIA-RAB4B EXON Missense_I12T,Missense_I12T,Silent exm1469656 19 41281557 [T/C] NM_001202553,NM_006533,NR_037775 MIA,MIA,MIA-RAB4B EXON Missense_A37V,Missense_A37V,Silent exm1469664 19 41281725 [T/C] NM_001202553,NM_006533,NR_037775 MIA,MIA,MIA-RAB4B EXON Missense_R66W,Missense_R66W,Silent exm1469675 19 41284295 [T/C] NR_037775,NR_037791,NM_016154 MIA-RAB4B,RAB4B-EGLN2,RAB4B EXON Silent,Silent,Synonymous_Y5Y exm1469682 19 41285977 [C/G] NR_037775,NR_037791,NM_016154 MIA-RAB4B,RAB4B-EGLN2,RAB4B EXON Silent,Silent,Missense_L24V exm1469687 19 41286352 [A/G] NR_037775,NR_037791,NM_016154 MIA-RAB4B,RAB4B-EGLN2,RAB4B EXON Silent,Silent,Missense_G54R exm1469700 19 41289929 [A/C] NR_037775,NR_037791,NM_016154 MIA-RAB4B,RAB4B-EGLN2,RAB4B EXON Silent,Silent,Missense_P127T exm1469715 19 41292809 [T/C] NR_037775,NR_037791,NM_016154 MIA-RAB4B,RAB4B-EGLN2,RAB4B EXON Silent,Silent,Missense_R195C exm1469727 19 41306568 [T/C] NR_037791,NM_080732,NM_053046 RAB4B-EGLN2,EGLN2,EGLN2 EXON Silent,Missense_R31W,Missense_R31W exm1469731 19 41306650 [T/C] NR_037791,NM_080732,NM_053046 RAB4B-EGLN2,EGLN2,EGLN2 EXON Silent,Missense_S58L,Missense_S58L exm1469734 19 41306743 [A/G] NR_037791,NM_080732,NM_053046 RAB4B-EGLN2,EGLN2,EGLN2 EXON Silent,Missense_R89Q,Missense_R89Q exm1469754 19 41307024 [A/G] NR_037791,NM_080732,NM_053046 RAB4B-EGLN2,EGLN2,EGLN2 EXON Silent,Missense_V183M,Missense_V183M exm-rs3733829 19 41310571 [A/G] NR_037791,NM_080732,NM_053046 RAB4B-EGLN2,EGLN2,EGLN2 Silent,Silent,Silent exm-IND19-46004544 19 41312705 [D/I] NR_037791,NM_080732,NM_053046 RAB4B-EGLN2,EGLN2,EGLN2 exm2276640 19 41351935 [A/G] NM_000762 CYP2A6 EXON Missense_I300T exm1469986 19 41382476 [T/A] NM_000764,NM_030589 CYP2A7,CYP2A7 EXON Missense_K420M,Missense_K369M exm1470007 19 41383115 [A/G] NM_000764,NM_030589 CYP2A7,CYP2A7 EXON Missense_R381W,Missense_R330W exm1470058 19 41386033 [T/C] NM_000764,NM_030589 CYP2A7,CYP2A7 EXON Missense_M204V,Missense_M153V exm1470128 19 41497223 [A/G] NM_000767 CYP2B6 EXON Missense_V5I exm1470161 19 41510059 [T/C] NM_000767 CYP2B6 EXON Missense_R109W exm1470178 19 41512828 [T/C] NM_000767 CYP2B6 EXON Missense_T168I exm1470181 19 41512843 [C/G] NM_000767 CYP2B6 EXON Missense_S173C exm1470188 19 41512884 [T/C] NM_000767 CYP2B6 EXON Nonsense_R187X exm1470216 19 41515943 [C/G] NM_000767 CYP2B6 EXON Missense_N289K exm1470222 19 41518204 [C/G] NM_000767 CYP2B6 EXON Missense_E322D exm1470223 19 41518205 [A/G] NM_000767 CYP2B6 EXON Missense_R323G exm1470224 19 41518221 [T/C] NM_000767 CYP2B6 EXON Missense_I328T exm1470226 19 41518244 [T/C] NM_000767 CYP2B6 EXON Missense_R336C exm1938493 19 41518255 [A/G] NM_000767 CYP2B6 EXON Synonymous_E339E exm1470229 19 41518261 [T/G] NM_000767 CYP2B6 EXON Missense_H341Q exm1470230 19 41518265 [T/C] NM_000767 CYP2B6 EXON Nonsense_R343X exm1470233 19 41518337 [T/G] NM_000767 CYP2B6 EXON Missense_V367L exm1470234 19 41518370 [T/C] NM_000767 CYP2B6 EXON Nonsense_R378X exm1938498 19 41518376 [T/C] NM_000767 CYP2B6 EXON Missense_Y380H exm2275073 19 41518383 [A/T] NM_000767 CYP2B6 EXON Missense_I382N exm-rs7260329 19 41521638 [A/G] NM_000767 CYP2B6 Silent exm1470253 19 41522583 [T/C] NM_000767 CYP2B6 EXON Missense_R443C exm1938508 19 41522646 [A/G] NM_000767 CYP2B6 EXON Missense_A464T exm1470311 19 41596015 [A/G] NM_000766 CYP2A13 EXON Missense_R136K exm1470351 19 41599674 [A/G] NM_000766 CYP2A13 EXON Missense_E324G exm1470361 19 41600311 [A/C] NM_000766 CYP2A13 EXON Missense_K379Q exm1470362 19 41600317 [T/C] NM_000766 CYP2A13 EXON Missense_R381W exm1470363 19 41600877 [A/T] NM_000766 CYP2A13 EXON Missense_F392Y exm1470374 19 41601710 [T/C] NM_000766 CYP2A13 EXON Missense_F450S exm-IND19-46313947 19 41622108 [D/I] NM_000774 CYP2F1 EXON exm1470395 19 41622188 [T/C] NM_000774 CYP2F1 EXON Missense_P32L exm1470398 19 41622241 [C/G] NM_000774 CYP2F1 EXON Missense_D50H exm1470401 19 41622409 [A/G] NM_000774 CYP2F1 EXON Missense_R74Q exm1938593 19 41622495 [A/G] NM_000774 CYP2F1 EXON Missense_A103T exm2253858 19 41626271 [T/G] NM_000774 CYP2F1 EXON Synonymous_G118G exm2229287 19 41626390 [A/G] NM_000774 CYP2F1 EXON Missense_R158Q exm1470422 19 41627402 [T/G] NM_000774 CYP2F1 EXON Missense_V175G exm1938606 19 41627438 [A/G] NM_000774 CYP2F1 EXON Missense_R187H exm1470443 19 41628761 [A/G] NM_000774 CYP2F1 EXON Missense_D286G exm1470446 19 41628809 [T/C] NM_000774 CYP2F1 EXON Missense_T302M exm1470449 19 41628832 [A/G] NM_000774 CYP2F1 EXON Missense_A310T exm1470451 19 41628855 [C/G] NM_000774 CYP2F1 EXON Nonsense_Y317X exm2268231 19 41651004 [A/G] exm1470523 19 41699182 [A/G] NM_030622 CYP2S1 EXON Missense_G5S exm1470553 19 41703792 [T/C] NM_030622 CYP2S1 EXON Missense_A151V exm1470560 19 41704438 [T/C] NM_030622 CYP2S1 EXON Missense_L189F exm1470566 19 41704642 [A/G] NM_030622 CYP2S1 EXON Missense_R228Q exm1470598 19 41709516 [T/C] NM_030622 CYP2S1 EXON Missense_R380C exm1470603 19 41711887 [T/G] NM_030622 CYP2S1 EXON Missense_G397C exm1470604 19 41711945 [A/G] NM_030622 CYP2S1 EXON Missense_R416H exm1470611 19 41712277 [T/C] NM_030622 CYP2S1 EXON Missense_C467R exm1470646 19 41727077 [T/C] NM_021913,NM_001699 AXL,AXL EXON Missense_T112M,Missense_T112M exm1470651 19 41727820 [A/G] NM_021913,NM_001699 AXL,AXL EXON Missense_T149A,Missense_T149A exm1470653 19 41727916 [T/G] NM_021913,NM_001699 AXL,AXL EXON Missense_A181S,Missense_A181S exm1470658 19 41727955 [A/G] NM_021913,NM_001699 AXL,AXL EXON Missense_V194I,Missense_V194I exm2272790 19 41734560 [T/C] NM_021913,NM_001699 AXL,AXL Silent,Silent exm1938711 19 41737105 [T/C] NM_021913,NM_001699 AXL,AXL EXON Missense_R229C,Missense_R229C exm1470669 19 41743861 [A/G] NM_021913,NM_001699 AXL,AXL EXON Missense_N266D,Missense_N266D exm1470688 19 41744462 [A/C] NM_021913,NM_001699 AXL,AXL EXON Missense_Q361P,Missense_Q361P exm1938733 19 41748818 [T/G] NM_021913,NM_001699 AXL,AXL EXON Missense_W448L,Missense_W439L exm1470711 19 41754430 [A/G] NM_021913,NM_001699 AXL,AXL EXON Missense_G517S,Missense_G508S exm1470713 19 41754478 [T/C] NM_021913,NM_001699 AXL,AXL EXON Missense_R533W,Missense_R524W exm1470726 19 41758862 [A/C] NM_021913,NM_001699 AXL,AXL EXON Missense_D639A,Missense_D630A exm1470739 19 41762429 [A/C] NM_021913,NM_001699 AXL,AXL EXON Nonsense_Y703X,Nonsense_Y694X exm1470753 19 41765475 [A/G] NM_021913,NM_001699 AXL,AXL EXON Missense_R784Q,Missense_R775Q exm1470757 19 41765538 [A/C] NM_021913,NM_001699 AXL,AXL EXON Missense_N805T,Missense_N796T exm1470777 19 41770568 [T/C] NM_144732,NM_007040 HNRNPUL1,HNRNPUL1 EXON Silent,Missense_P54S exm1470784 19 41774242 [A/G] NM_144732,NM_007040 HNRNPUL1,HNRNPUL1 EXON Missense_Y37C,Missense_Y137C exm1470797 19 41782163 [A/G] NM_144732,NM_007040 HNRNPUL1,HNRNPUL1 EXON Missense_S149N,Missense_S249N exm1938817 19 41822339 [A/G] NM_052848 CCDC97 EXON Missense_V33I exm1470881 19 41822351 [T/C] NM_052848 CCDC97 EXON Missense_P37S exm1470887 19 41822447 [A/G] NM_052848 CCDC97 EXON Missense_A69T exm1470888 19 41822456 [A/G] NM_052848 CCDC97 EXON Missense_A72T exm1470889 19 41822457 [T/C] NM_052848 CCDC97 EXON Missense_A72V exm1938819 19 41822463 [A/G] NM_052848 CCDC97 EXON Missense_R74H exm1470891 19 41822570 [T/C] NM_052848 CCDC97 EXON Missense_R110C exm1470892 19 41822571 [A/G] NM_052848 CCDC97 EXON Missense_R110H exm1470900 19 41822637 [T/C] NM_052848 CCDC97 EXON Missense_A132V exm1470904 19 41822678 [T/C] NM_052848 CCDC97 EXON Missense_R146W exm1938823 19 41822684 [T/C] NM_052848 CCDC97 EXON Missense_R148C exm1470905 19 41822693 [T/C] NM_052848 CCDC97 EXON Missense_R151C exm1470910 19 41825544 [A/G] NM_052848 CCDC97 EXON Missense_G190R exm1470936 19 41828540 [A/G] NM_052848 CCDC97 EXON Missense_V318M exm1470961 19 41847860 [A/G] NM_000660 TGFB1 EXON Missense_T263I exm1470968 19 41850682 [T/C] NM_000660 TGFB1 EXON Missense_G202R exm1470975 19 41858650 [A/C] NM_000660 TGFB1 EXON Missense_E100D exm1470977 19 41858772 [G/C] NM_000660 TGFB1 EXON Missense_A60P exm1471006 19 41860909 [T/C] NM_030578 B9D2 EXON Missense_R75Q exm1471017 19 41869392 [T/C] NM_030578 B9D2 EXON Missense_I11M exm1471025 19 41884327 [T/C] NM_001098825,NM_001098821,NM_001098822,NM_001098823,NM_001098824,NM_001042595 TMEM91,TMEM91,TMEM91,TMEM91,TMEM91,TMEM91 EXON Missense_I38T,Missense_I38T,Missense_I38T,Missense_I38T,Missense_I38T,Missense_I38T exm1471033 19 41888702 [T/C] NM_001098825,NM_001098821,NM_001098822,NM_001098823,NM_001098824,NM_001042595 TMEM91,TMEM91,TMEM91,TMEM91,TMEM91,TMEM91 EXON Missense_S79L,Missense_S79L,Missense_S79L,Missense_S79L,Missense_S79L,Missense_S79L exm1938884 19 41888803 [A/G] NM_001098825,NM_001098821,NM_001098822,NM_001098823,NM_001098824,NM_001042595 TMEM91,TMEM91,TMEM91,TMEM91,TMEM91,TMEM91 EXON Missense_A113T,Missense_A113T,Missense_A113T,Missense_A113T,Missense_A113T,Missense_A113T exm1471057 19 41892573 [A/G] NM_020158 EXOSC5 EXON Missense_R225W exm1471071 19 41893502 [A/G] NM_020158 EXOSC5 EXON Missense_R178W exm1471075 19 41895722 [A/G] NM_020158 EXOSC5 EXON Missense_A158V exm1471077 19 41895732 [A/C] NM_020158 EXOSC5 EXON Missense_V155F exm1471104 19 41903199 [T/C] NM_020158 EXOSC5 EXON Missense_R12H exm1471106 19 41903220 [A/G] NM_020158 EXOSC5 EXON Missense_T5M exm1471117 19 41916549 [A/C] NM_000709,NM_001164783 BCKDHA,BCKDHA EXON Missense_P39H,Missense_P39H exm1471119 19 41916558 [A/G] NM_000709,NM_001164783 BCKDHA,BCKDHA EXON Missense_Q42R,Missense_Q42R exm1471123 19 41916609 [T/C] NM_000709,NM_001164783 BCKDHA,BCKDHA EXON Missense_A59V,Missense_A59V exm1471131 19 41916721 [T/C] NM_000709,NM_001164783 BCKDHA,BCKDHA EXON Synonymous_H96H,Synonymous_H96H exm1471146 19 41920026 [A/G] NM_000709,NM_001164783 BCKDHA,BCKDHA EXON Missense_N150D,Missense_N150D exm1471147 19 41920030 [T/C] NM_000709,NM_001164783 BCKDHA,BCKDHA EXON Missense_T151M,Missense_T151M exm1938936 19 41928070 [T/G] NM_000709,NM_001164783 BCKDHA,BCKDHA EXON Synonymous_A216A,Synonymous_A216A exm1471153 19 41928086 [A/G] NM_000709,NM_001164783 BCKDHA,BCKDHA EXON Missense_A222T,Missense_A222T exm1471183 19 41928988 [A/G] NM_000709,NM_001164783 BCKDHA,BCKDHA EXON Missense_I361V,Missense_I360V exm1471212 19 41931605 [T/G] NM_198540 B3GNT8 EXON Missense_A360E exm1471220 19 41931707 [T/C] NM_198540 B3GNT8 EXON Missense_R326H exm1471223 19 41931720 [A/G] NM_198540 B3GNT8 EXON Missense_R322W exm1471244 19 41932112 [A/G] NM_198540 B3GNT8 EXON Missense_A191V exm1471257 19 41932374 [T/C] NM_198540 B3GNT8 EXON Missense_E104K exm1471263 19 41932474 [A/C] NM_198540 B3GNT8 EXON Missense_F70L exm1938976 19 41932552 [T/G] NM_198540 B3GNT8 EXON Missense_S44R exm1471269 19 41932581 [A/G] NM_198540 B3GNT8 EXON Missense_Y35H exm1471271 19 41932596 [A/G] NM_198540 B3GNT8 EXON Missense_R30W exm1471273 19 41932602 [T/C] NM_198540 B3GNT8 EXON Missense_E28K exm1471278 19 41932679 [T/C] NM_198540 B3GNT8 EXON Missense_R2H exm1471289 19 41938222 [T/C] NR_030765,NM_001167867,NM_001167871,NM_001167870,NM_018035,NM_001167868,NM_001167869 ATP5SL,ATP5SL,ATP5SL,ATP5SL,ATP5SL,ATP5SL,ATP5SL EXON Silent,Missense_E236K,Missense_E203K,Synonymous_A148A,Missense_E230K,Synonymous_A181A,Synonymous_A175A exm1471291 19 41938257 [A/G] NR_030765,NM_001167867,NM_001167871,NM_001167870,NM_018035,NM_001167868,NM_001167869 ATP5SL,ATP5SL,ATP5SL,ATP5SL,ATP5SL,ATP5SL,ATP5SL EXON Silent,Missense_T224I,Missense_T191I,Missense_L137F,Missense_T218I,Missense_L170F,Missense_L164F exm1471296 19 41938289 [T/C] NR_030765,NM_001167867,NM_001167871,NM_001167870,NM_018035,NM_001167868,NM_001167869 ATP5SL,ATP5SL,ATP5SL,ATP5SL,ATP5SL,ATP5SL,ATP5SL EXON Silent,Synonymous_S213S,Synonymous_S180S,Missense_R126Q,Synonymous_S207S,Missense_R159Q,Missense_R153Q exm1938985 19 41938290 [A/G] NR_030765,NM_001167867,NM_001167871,NM_001167870,NM_018035,NM_001167868,NM_001167869 ATP5SL,ATP5SL,ATP5SL,ATP5SL,ATP5SL,ATP5SL,ATP5SL EXON Silent,Missense_S213L,Missense_S180L,Missense_R126W,Missense_S207L,Missense_R159W,Missense_R153W exm1471298 19 41938306 [A/G] NR_030765,NM_001167867,NM_001167871,NM_001167870,NM_018035,NM_001167868,NM_001167869 ATP5SL,ATP5SL,ATP5SL,ATP5SL,ATP5SL,ATP5SL,ATP5SL EXON Silent,Missense_R208C,Missense_R175C,Synonymous_S120S,Missense_R202C,Synonymous_S153S,Synonymous_S147S exm1471302 19 41939196 [T/C] NR_030765,NM_001167867,NM_001167871,NM_001167870,NM_018035,NM_001167868,NM_001167869 ATP5SL,ATP5SL,ATP5SL,ATP5SL,ATP5SL,ATP5SL,ATP5SL EXON Silent,Missense_A199T,Missense_A166T,Silent,Missense_A193T,Silent,Silent exm1471307 19 41939253 [T/C] NR_030765,NM_001167867,NM_001167871,NM_001167870,NM_018035,NM_001167868,NM_001167869 ATP5SL,ATP5SL,ATP5SL,ATP5SL,ATP5SL,ATP5SL,ATP5SL EXON Silent,Missense_D180N,Missense_D147N,Silent,Missense_D174N,Silent,Silent exm1471310 19 41939297 [G/C] NR_030765,NM_001167867,NM_001167871,NM_001167870,NM_018035,NM_001167868,NM_001167869 ATP5SL,ATP5SL,ATP5SL,ATP5SL,ATP5SL,ATP5SL,ATP5SL EXON Silent,Missense_C165S,Missense_C132S,Silent,Missense_C159S,Silent,Silent exm1471315 19 41939460 [T/C] NR_030765,NM_001167867,NM_001167871,NM_001167870,NM_018035,NM_001167868,NM_001167869 ATP5SL,ATP5SL,ATP5SL,ATP5SL,ATP5SL,ATP5SL,ATP5SL EXON Silent,Missense_E145K,Missense_E112K,Missense_E112K,Missense_E139K,Missense_E145K,Missense_E139K exm1471330 19 41944237 [T/C] NR_030765,NM_001167867,NM_001167871,NM_001167870,NM_018035,NM_001167868,NM_001167869 ATP5SL,ATP5SL,ATP5SL,ATP5SL,ATP5SL,ATP5SL,ATP5SL EXON Silent,Missense_N40S,Missense_N34S,Missense_N34S,Missense_N34S,Missense_N40S,Missense_N34S exm1471331 19 41944270 [T/C] NR_030765,NM_001167867,NM_001167871,NM_001167870,NM_018035,NM_001167868,NM_001167869 ATP5SL,ATP5SL,ATP5SL,ATP5SL,ATP5SL,ATP5SL,ATP5SL EXON Silent,Missense_H29R,Missense_H23R,Missense_H23R,Missense_H23R,Missense_H29R,Missense_H23R exm1471341 19 41945795 [A/G] NR_030765,NM_001167871,NM_001167870,NM_018035,NM_001167869 ATP5SL,ATP5SL,ATP5SL,ATP5SL,ATP5SL EXON Silent,Missense_P4S,Missense_P4S,Missense_P4S,Missense_P4S exm2272791 19 41947635 [T/C] exm1471354 19 41949978 [T/C] NM_001130514 C19orf69 EXON Missense_A81V exm1471355 19 41949983 [T/C] NM_001130514 C19orf69 EXON Missense_R83W exm1471357 19 41950049 [A/G] NM_001130514 C19orf69 EXON Missense_E105K exm-rs4803480 19 42066279 [A/G] exm1471371 19 42083552 [T/C] NM_033543,NM_001098506 CEACAM21,CEACAM21 EXON Missense_A22V,Missense_A22V exm1471373 19 42083626 [T/G] NM_033543,NM_001098506 CEACAM21,CEACAM21 EXON Nonsense_E47X,Nonsense_E47X exm1471378 19 42083749 [A/G] NM_033543,NM_001098506 CEACAM21,CEACAM21 EXON Missense_V88I,Missense_V88I exm1471382 19 42083820 [C/G] NM_033543,NM_001098506 CEACAM21,CEACAM21 EXON Missense_N111K,Missense_N111K exm1471385 19 42083849 [A/C] NM_033543,NM_001098506 CEACAM21,CEACAM21 EXON Missense_T121N,Missense_T121N exm2253860 19 42085722 [T/C] NM_033543,NM_001098506 CEACAM21,CEACAM21 EXON Synonymous_P147P,Synonymous_P147P exm1471387 19 42085722 [T/C] NM_033543,NM_001098506 CEACAM21,CEACAM21 EXON Synonymous_P147P,Synonymous_P147P exm1471398 19 42085873 [A/G] NM_033543,NM_001098506 CEACAM21,CEACAM21 EXON Missense_M198V,Missense_M198V exm1471418 19 42091848 [T/G] NM_033543,NM_001098506 CEACAM21,CEACAM21 EXON Missense_G283C,Missense_G284C exm1471424 19 42092815 [A/T] NM_033543,NM_001098506 CEACAM21,CEACAM21 Silent,Silent exm1471429 19 42125713 [A/G] NM_001817 CEACAM4 EXON Missense_V242A exm1471444 19 42128097 [T/C] NM_001817 CEACAM4 EXON Missense_V157M exm1471447 19 42128133 [T/C] NM_001817 CEACAM4 EXON Missense_V145I exm1471453 19 42132025 [A/G] NM_001817 CEACAM4 EXON Missense_I125T exm1471455 19 42132031 [A/C] NM_001817 CEACAM4 EXON Missense_R123L exm1471456 19 42132032 [A/G] NM_001817 CEACAM4 EXON Nonsense_R123X exm1471458 19 42132047 [T/C] NM_001817 CEACAM4 EXON Missense_G118R exm1471467 19 42132193 [T/C] NM_001817 CEACAM4 EXON Missense_K69R exm1471472 19 42132274 [A/G] NM_001817 CEACAM4 EXON Missense_P42L exm1471478 19 42132329 [A/G] NM_001817 CEACAM4 EXON Missense_L24F exm1471495 19 42181429 [T/C] NM_006890 CEACAM7 EXON Missense_E237K exm1939099 19 42190791 [T/G] NM_006890 CEACAM7 EXON Missense_F142L exm1471504 19 42190796 [T/C] NM_006890 CEACAM7 EXON Missense_V141I exm1471509 19 42190844 [A/C] NM_006890 CEACAM7 EXON Missense_V125F exm1471513 19 42190871 [T/C] NM_006890 CEACAM7 EXON Missense_N116D exm1471516 19 42190921 [T/C] NM_006890 CEACAM7 EXON Missense_R99Q exm1471517 19 42190922 [A/G] NM_006890 CEACAM7 EXON Nonsense_R99X exm1471520 19 42190984 [T/C] NM_006890 CEACAM7 EXON Missense_R78Q exm1471526 19 42192030 [A/C] NM_006890 CEACAM7 Silent exm2229312 19 42213944 [A/C] NM_004363 CEACAM5 EXON Missense_Q137P exm1471594 19 42219121 [A/G] NM_004363 CEACAM5 EXON Missense_N219S exm1471606 19 42219631 [T/A] NM_004363 CEACAM5 EXON Missense_N256Y exm1471618 19 42221418 [A/G] NM_004363 CEACAM5 EXON Missense_V335M exm1471626 19 42221554 [T/C] NM_004363 CEACAM5 EXON Missense_L380P exm1471628 19 42221607 [A/G] NM_004363 CEACAM5 EXON Missense_K398E exm1471631 19 42221628 [A/G] NM_004363 CEACAM5 EXON Missense_D405N exm1471632 19 42221638 [T/C] NM_004363 CEACAM5 EXON Missense_I408T exm1471648 19 42224052 [A/G] NM_004363 CEACAM5 EXON Missense_A566T exm1471651 19 42224098 [A/G] NM_004363 CEACAM5 EXON Missense_R581H exm1471667 19 42224953 [A/G] NM_004363 CEACAM5 EXON Missense_R628H exm1471675 19 42225060 [A/C] NM_004363 CEACAM5 EXON Missense_R664S exm1471677 19 42225073 [T/C] NM_004363 CEACAM5 EXON Missense_I668T exm1471678 19 42231159 [A/G] NM_004363 CEACAM5 EXON Missense_G678R exm1471697 19 42260579 [A/G] NM_002483 CEACAM6 EXON Missense_A46T exm1471699 19 42260606 [A/G] NM_002483 CEACAM6 EXON Missense_A55T exm1471736 19 42265357 [A/G] NM_002483 CEACAM6 EXON Missense_D209N exm1471751 19 42266000 [T/C] NM_002483 CEACAM6 EXON Missense_T276M exm1471755 19 42266092 [T/G] NM_002483 CEACAM6 EXON Missense_G307C exm1471777 19 42301730 [C/G] NM_001815 CEACAM3 EXON Missense_G92R exm1471802 19 42314364 [A/G] NM_001815 CEACAM3 EXON Missense_R200H exm1471821 19 42341407 [G/C] NM_173506 LYPD4 EXON Missense_T184S exm1471848 19 42342987 [T/C] NM_173506 LYPD4 EXON Missense_G60D exm1471849 19 42342993 [T/G] NM_173506 LYPD4 EXON Missense_Q58P exm1471851 19 42343009 [T/C] NM_173506 LYPD4 EXON Missense_M53V exm1471873 19 42351893 [C/G] NM_001040283 DMRTC2 EXON Missense_A105G exm1939242 19 42351948 [T/C] NM_001040283 DMRTC2 EXON Synonymous_P123P exm1471876 19 42352553 [A/C] NM_001040283 DMRTC2 EXON Missense_T135N exm1471910 19 42355696 [T/C] NM_001040283 DMRTC2 EXON Nonsense_R346X exm1471921 19 42364912 [A/G] NM_001022 RPS19 EXON Missense_K23R exm1471926 19 42365273 [T/C] NM_001022 RPS19 EXON Missense_T55M exm1471938 19 42373769 [T/C] NM_001022 RPS19 EXON Synonymous_G119G exm1471947 19 42381387 [T/C] NM_021601,NM_001783 CD79A,CD79A EXON Missense_P5S,Missense_P5S exm1471951 19 42383114 [C/G] NM_021601,NM_001783 CD79A,CD79A EXON Missense_S45T,Missense_S45T exm1471955 19 42383168 [A/G] NM_021601,NM_001783 CD79A,CD79A EXON Missense_N63S,Missense_N63S exm1471958 19 42383204 [T/C] NM_021601,NM_001783 CD79A,CD79A EXON Missense_T75M,Missense_T75M exm1471960 19 42383249 [T/C] NM_021601,NM_001783 CD79A,CD79A EXON Silent,Missense_T90M exm1471967 19 42383351 [A/G] NM_021601,NM_001783 CD79A,CD79A EXON Silent,Missense_R124H exm1471969 19 42383644 [A/C] NM_021601,NM_001783 CD79A,CD79A EXON Missense_T102N,Missense_T140N exm1471994 19 42392170 [A/G] NM_004706,NM_198977,NM_199002 ARHGEF1,ARHGEF1,ARHGEF1 EXON Missense_R6Q,Missense_R6Q,Missense_R21Q exm1471997 19 42392299 [A/G] NM_004706,NM_198977,NM_199002 ARHGEF1,ARHGEF1,ARHGEF1 EXON Missense_V21I,Missense_V21I,Missense_V36I exm2268232 19 42393286 [A/G] NM_004706,NM_198977,NM_199002 ARHGEF1,ARHGEF1,ARHGEF1 Silent,Silent,Silent exm1472015 19 42396761 [T/G] NM_004706,NM_198977,NM_199002 ARHGEF1,ARHGEF1,ARHGEF1 EXON Missense_R152L,Missense_R119L,Missense_R167L exm1472036 19 42398536 [T/C] NM_004706,NM_198977,NM_199002 ARHGEF1,ARHGEF1,ARHGEF1 EXON Missense_R253W,Missense_R220W,Missense_R268W exm1472045 19 42398717 [T/C] NM_004706,NM_198977,NM_199002 ARHGEF1,ARHGEF1,ARHGEF1 EXON Missense_L287P,Missense_L254P,Missense_L302P exm1472048 19 42399445 [T/C] NM_004706,NM_198977,NM_199002 ARHGEF1,ARHGEF1,ARHGEF1 EXON Missense_R301W,Missense_R268W,Missense_R316W exm1472052 19 42399486 [T/C] NM_004706,NM_198977,NM_199002 ARHGEF1,ARHGEF1,ARHGEF1 EXON Synonymous_I314I,Synonymous_I281I,Synonymous_I329I exm1472061 19 42400504 [T/G] NM_004706,NM_198977,NM_199002 ARHGEF1,ARHGEF1,ARHGEF1 EXON Missense_L357R,Missense_L324R,Missense_L372R exm2229325 19 42402593 [T/C] NM_004706,NM_198977,NM_199002 ARHGEF1,ARHGEF1,ARHGEF1 EXON Missense_P375L,Missense_P342L,Missense_P390L exm1472072 19 42402609 [T/G] NM_004706,NM_198977,NM_199002 ARHGEF1,ARHGEF1,ARHGEF1 EXON Missense_E380D,Missense_E347D,Missense_E395D exm1472075 19 42402673 [A/G] NM_004706,NM_198977,NM_199002 ARHGEF1,ARHGEF1,ARHGEF1 EXON Missense_V402I,Missense_V369I,Missense_V417I exm1472105 19 42407872 [A/G] NM_004706,NM_198977,NM_199002 ARHGEF1,ARHGEF1,ARHGEF1 EXON Missense_Y618C,Missense_Y585C,Missense_Y633C exm1472107 19 42408188 [A/C] NM_004706,NM_198977,NM_199002 ARHGEF1,ARHGEF1,ARHGEF1 EXON Missense_N640T,Missense_N607T,Missense_N655T exm1472119 19 42408523 [A/G] NM_004706,NM_198977,NM_199002 ARHGEF1,ARHGEF1,ARHGEF1 EXON Missense_E717K,Missense_E684K,Missense_E732K exm1472140 19 42410623 [G/C] NM_004706,NM_198977,NM_199002 ARHGEF1,ARHGEF1,ARHGEF1 EXON Missense_Q836E,Missense_Q803E,Missense_Q851E exm1472153 19 42410924 [A/C] NM_004706,NM_198977,NM_199002 ARHGEF1,ARHGEF1,ARHGEF1 EXON Missense_P909T,Missense_P876T,Missense_P924T exm1472166 19 42462898 [C/G] NM_006423 RABAC1 EXON Missense_L87V exm1472172 19 42463050 [T/C] NM_006423 RABAC1 EXON Missense_E36G exm1472196 19 42473037 [T/G] NM_152296,NM_001256214,NM_001256213 ATP1A3,ATP1A3,ATP1A3 EXON Missense_T907P,Missense_T920P,Missense_T918P exm1472198 19 42473622 [T/C] NM_152296,NM_001256214,NM_001256213 ATP1A3,ATP1A3,ATP1A3 EXON Missense_V885I,Missense_V898I,Missense_V896I exm1472290 19 42492088 [A/G] NM_152296,NM_001256214,NM_001256213 ATP1A3,ATP1A3,ATP1A3 EXON Synonymous_N119N,Synonymous_N132N,Synonymous_N130N exm1472321 19 42507503 [A/C] NM_002088 GRIK5 EXON Missense_R832M exm1472339 19 42525481 [A/G] NM_002088 GRIK5 EXON Synonymous_L615L exm1472342 19 42525582 [A/G] NM_002088 GRIK5 EXON Missense_A581V exm2272792 19 42549934 [T/C] NM_002088 GRIK5 Silent exm1472369 19 42557839 [T/C] NM_002088 GRIK5 EXON Missense_R395H exm1472376 19 42558474 [T/C] NM_002088 GRIK5 EXON Missense_M352V exm2276646 19 42558502 [A/G] NM_002088 GRIK5 EXON Synonymous_H342H exm1472394 19 42563604 [T/C] NM_002088 GRIK5 EXON Missense_D195G exm1472407 19 42566715 [T/C] NM_002088 GRIK5 EXON Missense_V145I exm1472408 19 42566716 [A/G] NM_002088 GRIK5 EXON Synonymous_D144D exm1472422 19 42569404 [T/C] NM_002088 GRIK5 EXON Missense_R72Q exm1472428 19 42569506 [T/C] NM_002088 GRIK5 EXON Missense_R38H exm1472444 19 42582961 [A/G] NM_022752 ZNF574 EXON Missense_Q68R exm1472449 19 42583062 [A/C] NM_022752 ZNF574 EXON Missense_M102L exm1472451 19 42583191 [T/C] NM_022752 ZNF574 EXON Missense_R145W exm2276647 19 42583294 [T/C] NM_022752 ZNF574 EXON Missense_V179A exm1939531 19 42583327 [C/G] NM_022752 ZNF574 EXON Missense_G190A exm1939533 19 42583500 [T/G] NM_022752 ZNF574 EXON Missense_A248S exm1472474 19 42583639 [A/G] NM_022752 ZNF574 EXON Missense_R294Q exm1472477 19 42583683 [T/C] NM_022752 ZNF574 EXON Missense_L309F exm1939538 19 42583753 [A/G] NM_022752 ZNF574 EXON Missense_R332Q exm1472487 19 42583870 [T/A] NM_022752 ZNF574 EXON Missense_L371Q exm1472495 19 42584056 [A/G] NM_022752 ZNF574 EXON Missense_G433D exm1472502 19 42584214 [T/C] NM_022752 ZNF574 EXON Missense_R486C exm1472503 19 42584215 [A/G] NM_022752 ZNF574 EXON Missense_R486H exm1472509 19 42584260 [G/C] NM_022752 ZNF574 EXON Missense_G501A exm1472520 19 42584413 [G/C] NM_022752 ZNF574 EXON Missense_R552P exm1472536 19 42584827 [T/C] NM_022752 ZNF574 EXON Missense_A690V exm1472543 19 42584890 [G/C] NM_022752 ZNF574 EXON Missense_T711S exm1472545 19 42584938 [T/C] NM_022752 ZNF574 EXON Missense_A727V exm1472548 19 42584958 [T/C] NM_022752 ZNF574 EXON Missense_R734C exm1472559 19 42585372 [T/G] NM_022752 ZNF574 EXON Missense_V872L exm1472609 19 42603876 [T/C] NM_002698,NM_001207025,NM_001247994,NM_001207026 POU2F2,POU2F2,POU2F2,POU2F2 EXON Missense_S134N,Missense_S134N,Missense_S134N,Missense_S134N exm1472612 19 42621421 [A/G] NM_002698,NM_001207025,NM_001247994,NM_001207026 POU2F2,POU2F2,POU2F2,POU2F2 EXON Missense_T95M,Missense_T95M,Missense_T95M,Missense_T95M exm1472647 19 42713984 [T/G] NR_073049,NR_073050,NR_073051,NM_133328,NR_073052,NR_073047,NR_073046,NM_001270615,NM_001270614,NR_073048 DEDD2,DEDD2,DEDD2,DEDD2,DEDD2,DEDD2,DEDD2,DEDD2,DEDD2,DEDD2 EXON Silent,Silent,Silent,Missense_P153T,Silent,Silent,Silent,Missense_P148T,Missense_P153T,Silent exm1472651 19 42719304 [A/C] NR_073049,NR_073050,NR_073051,NM_133328,NR_073052,NR_073047,NR_073046,NM_001270615,NM_001270614,NR_073048 DEDD2,DEDD2,DEDD2,DEDD2,DEDD2,DEDD2,DEDD2,DEDD2,DEDD2,DEDD2 EXON Silent,Silent,Silent,Missense_Q143H,Silent,Silent,Silent,Missense_Q143H,Missense_Q143H,Silent exm1472657 19 42719342 [A/G] NR_073049,NR_073050,NR_073051,NM_133328,NR_073052,NR_073047,NR_073046,NM_001270615,NM_001270614,NR_073048 DEDD2,DEDD2,DEDD2,DEDD2,DEDD2,DEDD2,DEDD2,DEDD2,DEDD2,DEDD2 EXON Silent,Silent,Silent,Missense_R131C,Silent,Silent,Silent,Missense_R131C,Missense_R131C,Silent exm1472659 19 42719383 [T/C] NR_073049,NR_073050,NR_073051,NM_133328,NR_073052,NR_073047,NR_073046,NM_001270615,NM_001270614,NR_073048 DEDD2,DEDD2,DEDD2,DEDD2,DEDD2,DEDD2,DEDD2,DEDD2,DEDD2,DEDD2 EXON Silent,Silent,Silent,Missense_Y117C,Silent,Silent,Silent,Missense_Y117C,Missense_Y117C,Silent exm1472668 19 42721077 [T/C] NR_073049,NR_073050,NR_073051,NM_133328,NR_073052,NR_073047,NR_073046,NM_001270615,NM_001270614,NR_073048 DEDD2,DEDD2,DEDD2,DEDD2,DEDD2,DEDD2,DEDD2,DEDD2,DEDD2,DEDD2 EXON Silent,Silent,Silent,Missense_R28H,Silent,Silent,Silent,Missense_R28H,Missense_R28H,Silent exm1472675 19 42728635 [T/C] NM_133444 ZNF526 EXON Missense_S27L exm1472677 19 42728658 [A/G] NM_133444 ZNF526 EXON Missense_T35A exm1472680 19 42728836 [T/C] NM_133444 ZNF526 EXON Missense_V94A exm1939609 19 42728950 [A/G] NM_133444 ZNF526 EXON Missense_R132Q exm1472694 19 42729121 [T/C] NM_133444 ZNF526 EXON Missense_P189L exm1472703 19 42729327 [A/G] NM_133444 ZNF526 EXON Missense_G258S exm1472725 19 42729579 [A/G] NM_133444 ZNF526 EXON Missense_K342E exm1472727 19 42729610 [A/G] NM_133444 ZNF526 EXON Missense_R352Q exm2229338 19 42729720 [T/C] NM_133444 ZNF526 EXON Missense_R389C exm1472759 19 42730248 [A/G] NM_133444 ZNF526 EXON Missense_T565A exm1472767 19 42730380 [A/C] NM_133444 ZNF526 EXON Missense_P609T exm1472768 19 42730399 [T/C] NM_133444 ZNF526 EXON Missense_P615L exm1472772 19 42730536 [A/G] NM_133444 ZNF526 EXON Missense_G661R exm1472775 19 42730563 [A/G] NM_133444 ZNF526 EXON Missense_V670M exm1472783 19 42736245 [T/G] NM_019884 GSK3A EXON Missense_P448T exm1472802 19 42740863 [A/G] NM_019884 GSK3A EXON Synonymous_D187D exm2253863 19 42740863 [A/G] NM_019884 GSK3A EXON Synonymous_D187D exm1472809 19 42744253 [C/G] NM_019884 GSK3A EXON Missense_Q109E exm1939646 19 42744268 [T/C] NM_019884 GSK3A EXON Missense_V104I exm2275075 19 42791482 [A/G] NM_015125 CIC EXON Missense_I155V exm1472925 19 42793472 [A/G] NM_015125 CIC EXON Missense_R425H exm1472932 19 42794386 [G/C] NM_015125 CIC EXON Missense_G489A exm1472946 19 42794527 [T/C] NM_015125 CIC EXON Missense_A536V exm1472950 19 42794554 [T/C] NM_015125 CIC EXON Missense_S545L exm1472976 19 42794899 [T/C] NM_015125 CIC EXON Missense_P660L exm1472982 19 42795007 [A/G] NM_015125 CIC EXON Missense_R696Q exm1472988 19 42795144 [T/C] NM_015125 CIC EXON Missense_P742S exm1473017 19 42795597 [T/C] NM_015125 CIC EXON Missense_P893S exm1473035 19 42796307 [C/G] NM_015125 CIC EXON Missense_L986V exm1939728 19 42796852 [T/A] NM_015125 CIC EXON Missense_S1104T exm1473061 19 42797005 [A/G] NM_015125 CIC EXON Missense_A1155T exm1473065 19 42797159 [T/C] NM_015125 CIC EXON Missense_P1174L exm1473068 19 42797224 [A/G] NM_015125 CIC EXON Missense_A1196T exm1473109 19 42799003 [A/G] NM_015125 CIC EXON Missense_R1496H exm1473145 19 42804135 [T/C] NM_001145939,NM_001145940,NM_002573 PAFAH1B3,PAFAH1B3,PAFAH1B3 EXON Missense_R132Q,Missense_R132Q,Missense_R132Q exm1473157 19 42806407 [T/C] NM_001145939,NM_001145940,NM_002573,NM_199285 PAFAH1B3,PAFAH1B3,PAFAH1B3,PRR19 EXON Missense_G19S,Missense_G19S,Missense_G19S,Silent exm1473169 19 42813804 [A/G] NM_199285 PRR19 EXON Missense_R23Q exm1473172 19 42813884 [T/C] NM_199285 PRR19 EXON Missense_R50W exm1473178 19 42813956 [T/C] NM_199285 PRR19 EXON Missense_R74W exm1473186 19 42814231 [A/C] NM_199285 PRR19 EXON Missense_N165K exm1473187 19 42814302 [T/C] NM_199285 PRR19 EXON Missense_A189V exm1473206 19 42814708 [T/C] NM_199285 PRR19 EXON Missense_P296L exm1473211 19 42814791 [A/G] NM_199285 PRR19 EXON Missense_D324N exm1473222 19 42818465 [C/G] NM_173633 TMEM145 EXON Nonsense_Y54X exm1473252 19 42820695 [A/G] NM_173633 TMEM145 EXON Missense_E237K exm1473253 19 42820709 [C/G] NM_173633 TMEM145 EXON Missense_I241M exm2229349 19 42821111 [T/C] NM_173633 TMEM145 EXON Missense_A299V exm1473274 19 42827763 [A/G] NM_173633 TMEM145 EXON Missense_K408R exm1473280 19 42827927 [C/G] NM_173633 TMEM145 EXON Missense_P463A exm1939829 19 42837906 [A/G] NM_001271938,NM_001410 MEGF8,MEGF8 EXON Missense_A113T,Missense_A113T exm1473309 19 42838364 [T/C] NM_001271938,NM_001410 MEGF8,MEGF8 EXON Missense_S186L,Missense_S186L exm1473311 19 42839203 [T/G] NM_001271938,NM_001410 MEGF8,MEGF8 EXON Missense_R192L,Missense_R192L exm1473313 19 42839227 [A/G] NM_001271938,NM_001410 MEGF8,MEGF8 EXON Missense_R200H,Missense_R200H exm1473327 19 42840173 [A/G] NM_001271938,NM_001410 MEGF8,MEGF8 EXON Missense_V307M,Missense_V307M exm2275076 19 42840285 [A/G] NM_001271938,NM_001410 MEGF8,MEGF8 EXON Missense_D344G,Missense_D344G exm1939847 19 42840416 [A/G] NM_001271938,NM_001410 MEGF8,MEGF8 EXON Missense_A388T,Missense_A388T exm1473369 19 42848927 [A/T] NM_001271938,NM_001410 MEGF8,MEGF8 EXON Missense_L680Q,Missense_L680Q exm1473379 19 42853709 [G/C] NM_001271938,NM_001410 MEGF8,MEGF8 EXON Missense_P786R,Missense_P719R exm1473387 19 42853851 [T/C] NM_001271938,NM_001410 MEGF8,MEGF8 EXON Synonymous_S833S,Synonymous_S766S exm1939872 19 42854337 [T/C] NM_001271938,NM_001410 MEGF8,MEGF8 EXON Missense_S846L,Missense_S779L exm1473395 19 42854444 [A/G] NM_001271938,NM_001410 MEGF8,MEGF8 EXON Missense_G882R,Missense_G815R exm1939890 19 42857826 [T/C] NM_001271938,NM_001410 MEGF8,MEGF8 EXON Missense_R1254W,Missense_R1187W exm1473467 19 42858176 [A/G] NM_001271938,NM_001410 MEGF8,MEGF8 EXON Synonymous_T1337T,Synonymous_T1270T exm1473505 19 42860985 [T/C] NM_001271938,NM_001410 MEGF8,MEGF8 EXON Missense_P1561L,Missense_P1494L exm1939904 19 42861046 [G/C] NM_001271938,NM_001410 MEGF8,MEGF8 EXON Missense_M1581I,Missense_M1514I exm1473512 19 42861084 [A/G] NM_001271938,NM_001410 MEGF8,MEGF8 EXON Missense_R1594H,Missense_R1527H exm1473527 19 42862302 [A/G] NM_001271938,NM_001410 MEGF8,MEGF8 EXON Missense_Y1673C,Missense_Y1606C exm1473536 19 42863020 [T/C] NM_001271938,NM_001410 MEGF8,MEGF8 EXON Missense_R1753W,Missense_R1686W exm1473537 19 42863035 [A/G] NM_001271938,NM_001410 MEGF8,MEGF8 EXON Missense_K1758E,Missense_K1691E exm1473541 19 42863083 [G/C] NM_001271938,NM_001410 MEGF8,MEGF8 EXON Missense_E1774Q,Missense_E1707Q exm1473558 19 42864930 [T/C] NM_001271938,NM_001410 MEGF8,MEGF8 EXON Missense_S1831L,Missense_S1764L exm2229358 19 42864950 [A/G] NM_001271938,NM_001410 MEGF8,MEGF8 EXON Missense_M1838V,Missense_M1771V exm1473559 19 42864962 [C/G] NM_001271938,NM_001410 MEGF8,MEGF8 EXON Missense_V1842L,Missense_V1775L exm1473602 19 42872808 [T/C] NM_001271938,NM_001410 MEGF8,MEGF8 EXON Missense_R2159C,Missense_R2092C exm1473629 19 42874440 [A/G] NM_001271938,NM_001410 MEGF8,MEGF8 EXON Missense_I2312V,Missense_I2245V exm1473637 19 42874895 [A/G] NM_001271938,NM_001410 MEGF8,MEGF8 EXON Missense_V2350M,Missense_V2283M exm1473639 19 42874901 [A/G] NM_001271938,NM_001410 MEGF8,MEGF8 EXON Missense_V2352M,Missense_V2285M exm1473645 19 42875579 [T/C] NM_001271938,NM_001410 MEGF8,MEGF8 EXON Missense_T2405M,Missense_T2338M exm1473648 19 42879662 [A/G] NM_001271938,NM_001410 MEGF8,MEGF8 EXON Missense_A2425T,Missense_A2358T exm1473655 19 42879810 [A/G] NM_001271938,NM_001410 MEGF8,MEGF8 EXON Missense_R2474H,Missense_R2407H exm1473663 19 42879956 [A/G] NM_001271938,NM_001410 MEGF8,MEGF8 EXON Missense_T2523A,Missense_T2456A exm1473669 19 42880094 [A/G] NM_001271938,NM_001410 MEGF8,MEGF8 EXON Missense_V2569I,Missense_V2502I exm1473676 19 42880163 [A/G] NM_001271938,NM_001410 MEGF8,MEGF8 EXON Missense_V2592M,Missense_V2525M exm1473678 19 42880175 [A/C] NM_001271938,NM_001410 MEGF8,MEGF8 EXON Missense_L2596M,Missense_L2529M exm1473686 19 42880431 [A/G] NM_001271938,NM_001410 MEGF8,MEGF8 EXON Missense_E2681G,Missense_E2614G exm1473702 19 42880815 [A/G] NM_001271938,NM_001410 MEGF8,MEGF8 EXON Missense_R2809K,Missense_R2742K exm1473709 19 42880856 [A/G] NM_001271938,NM_001410 MEGF8,MEGF8 EXON Missense_S2823G,Missense_S2756G exm1473728 19 42891363 [A/G] NM_032488 CNFN EXON Missense_T94I exm1473742 19 42893102 [A/C] NM_032488 CNFN EXON Missense_D30Y exm1473766 19 42906838 [C/G] NR_073180,NM_005357 LOC100996307,LIPE EXON Silent,Missense_P963R exm1473775 19 42906914 [T/G] NR_073180,NM_005357 LOC100996307,LIPE EXON Silent,Missense_R938S exm1473781 19 42907064 [A/G] NR_073180,NM_005357 LOC100996307,LIPE EXON Silent,Missense_S888P exm1473788 19 42907171 [T/C] NR_073180,NM_005357 LOC100996307,LIPE EXON Silent,Missense_R852H exm1473795 19 42909626 [T/C] NR_073180,NM_005357 LOC100996307,LIPE EXON Silent,Missense_R818Q exm1473797 19 42909645 [T/C] NR_073180,NM_005357 LOC100996307,LIPE EXON Silent,Missense_D812N exm1473806 19 42910407 [T/C] NR_073180,NM_005357 LOC100996307,LIPE EXON Silent,Missense_M757I exm1473808 19 42910445 [C/G] NR_073180,NM_005357 LOC100996307,LIPE EXON Silent,Missense_V745L exm1473809 19 42910454 [T/C] NR_073180,NM_005357 LOC100996307,LIPE EXON Silent,Missense_G742R exm1473829 19 42911617 [T/C] NR_073180,NM_005357 LOC100996307,LIPE EXON Silent,Missense_S616G exm1473831 19 42911769 [A/G] NR_073180,NM_005357 LOC100996307,LIPE EXON Silent,Missense_R611C exm1473835 19 42911869 [T/C] NR_073180,NM_005357 LOC100996307,LIPE EXON Silent,Missense_M577I exm1473836 19 42911877 [A/T] NR_073180,NM_005357 LOC100996307,LIPE EXON Silent,Missense_F575I exm1473848 19 42912216 [T/C] NR_073180,NM_005357 LOC100996307,LIPE EXON Silent,Missense_R523H exm1473849 19 42912223 [T/C] NR_073180,NM_005357 LOC100996307,LIPE EXON Silent,Missense_E521K exm1473850 19 42912229 [T/C] NR_073180,NM_005357 LOC100996307,LIPE EXON Silent,Missense_D519N exm1473852 19 42912244 [T/C] NR_073180,NM_005357 LOC100996307,LIPE EXON Silent,Missense_G514S exm1473859 19 42912441 [T/C] NR_073180,NM_005357 LOC100996307,LIPE EXON Silent,Missense_I485V exm1940007 19 42914568 [T/C] NR_073180,NM_005357 LOC100996307,LIPE EXON Silent,Missense_R437Q exm1473871 19 42914587 [A/G] NR_073180,NM_005357 LOC100996307,LIPE EXON Silent,Missense_R431C exm1473874 19 42914626 [T/C] NR_073180,NM_005357 LOC100996307,LIPE EXON Silent,Missense_A418T exm1473876 19 42914665 [T/G] NR_073180,NM_005357 LOC100996307,LIPE EXON Silent,Missense_T405P exm1473878 19 42914668 [A/G] NR_073180,NM_005357 LOC100996307,LIPE EXON Silent,Missense_R404C exm1473880 19 42914682 [T/C] NR_073180,NM_005357 LOC100996307,LIPE EXON Silent,Missense_R399H exm1473882 19 42914703 [T/C] NR_073180,NM_005357 LOC100996307,LIPE EXON Silent,Missense_R392H exm1473886 19 42914772 [A/G] NR_073180,NM_005357 LOC100996307,LIPE EXON Silent,Missense_P369L exm1473891 19 42914880 [T/C] NR_073180,NM_005357 LOC100996307,LIPE EXON Silent,Missense_R333Q exm1473897 19 42930418 [T/C] NR_073180,NM_005357,NR_073179 LOC100996307,LIPE,LOC100996307 Silent,Silent,Silent exm1473907 19 42930628 [A/G] NR_073180,NM_005357,NR_073179 LOC100996307,LIPE,LOC100996307 EXON Silent,Missense_L225P,Silent exm1473908 19 42930652 [T/C] NR_073180,NM_005357,NR_073179 LOC100996307,LIPE,LOC100996307 EXON Silent,Missense_R217Q,Silent exm1473911 19 42930721 [A/G] NR_073180,NM_005357,NR_073179 LOC100996307,LIPE,LOC100996307 EXON Silent,Missense_A194V,Silent exm1473912 19 42930734 [T/G] NR_073180,NM_005357,NR_073179 LOC100996307,LIPE,LOC100996307 EXON Silent,Missense_P190T,Silent exm1473914 19 42930751 [T/G] NR_073180,NM_005357,NR_073179 LOC100996307,LIPE,LOC100996307 EXON Silent,Nonsense_S184X,Silent exm1473920 19 42930866 [A/G] NR_073180,NM_005357,NR_073179 LOC100996307,LIPE,LOC100996307 EXON Silent,Missense_P146S,Silent exm1473926 19 42931022 [T/C] NR_073180,NM_005357,NR_073179 LOC100996307,LIPE,LOC100996307 EXON Silent,Missense_A94T,Silent exm1473931 19 42931135 [T/C] NR_073180,NM_005357,NR_073179 LOC100996307,LIPE,LOC100996307 EXON Silent,Missense_R56K,Silent exm1473939 19 42937953 [T/G] NR_073180,NR_073179,NM_198477 LOC100996307,LOC100996307,CXCL17 EXON Silent,Silent,Missense_E45D exm2264681 19 42986983 [A/C] NR_073180,NR_073179 LOC100996307,LOC100996307 Silent,Silent exm1473953 19 43013329 [T/G] NR_073180,NR_073179,NM_001205344,NM_001712,NM_001024912,NM_001184815,NM_001184813,NM_001184816 LOC100996307,LOC100996307,CEACAM1,CEACAM1,CEACAM1,CEACAM1,CEACAM1,CEACAM1 EXON Silent,Silent,Silent,Missense_Q505K,Silent,Missense_Q440K,Missense_Q409K,Silent exm1473960 19 43015049 [A/G] NR_073180,NR_073179,NM_001205344,NM_001712,NM_001024912,NM_001184815,NM_001184813,NM_001184816 LOC100996307,LOC100996307,CEACAM1,CEACAM1,CEACAM1,CEACAM1,CEACAM1,CEACAM1 EXON Silent,Silent,Synonymous_H465H,Missense_P485S,Silent,Missense_P420S,Missense_P389S,Silent exm1473982 19 43023219 [T/C] NR_073180,NR_073179,NM_001205344,NM_001712,NM_001024912,NM_001184815,NM_001184813,NM_001184816 LOC100996307,LOC100996307,CEACAM1,CEACAM1,CEACAM1,CEACAM1,CEACAM1,CEACAM1 EXON Silent,Silent,Missense_Q376R,Missense_Q376R,Missense_Q376R,Silent,Silent,Silent exm1940054 19 43023220 [C/G] NR_073180,NR_073179,NM_001205344,NM_001712,NM_001024912,NM_001184815,NM_001184813,NM_001184816 LOC100996307,LOC100996307,CEACAM1,CEACAM1,CEACAM1,CEACAM1,CEACAM1,CEACAM1 EXON Silent,Silent,Missense_Q376E,Missense_Q376E,Missense_Q376E,Silent,Silent,Silent exm1473985 19 43023255 [T/C] NR_073180,NR_073179,NM_001205344,NM_001712,NM_001024912,NM_001184815,NM_001184813,NM_001184816 LOC100996307,LOC100996307,CEACAM1,CEACAM1,CEACAM1,CEACAM1,CEACAM1,CEACAM1 EXON Silent,Silent,Missense_Q364R,Missense_Q364R,Missense_Q364R,Silent,Silent,Silent exm1473987 19 43023273 [T/C] NR_073180,NR_073179,NM_001205344,NM_001712,NM_001024912,NM_001184815,NM_001184813,NM_001184816 LOC100996307,LOC100996307,CEACAM1,CEACAM1,CEACAM1,CEACAM1,CEACAM1,CEACAM1 EXON Silent,Silent,Missense_R358H,Missense_R358H,Missense_R358H,Silent,Silent,Silent exm2263610 19 43031219 [T/C] NR_073180,NR_073179,NM_001205344,NM_001712,NM_001024912,NM_001184815,NM_001184813,NM_001184816 LOC100996307,LOC100996307,CEACAM1,CEACAM1,CEACAM1,CEACAM1,CEACAM1,CEACAM1 EXON Silent,Silent,Missense_E133G,Missense_E133G,Missense_E133G,Missense_E133G,Missense_E133G,Missense_E133G exm1474043 19 43031514 [T/G] NR_073180,NR_073179,NM_001205344,NM_001712,NM_001024912,NM_001184815,NM_001184813,NM_001184816 LOC100996307,LOC100996307,CEACAM1,CEACAM1,CEACAM1,CEACAM1,CEACAM1,CEACAM1 EXON Silent,Silent,Missense_Q35K,Missense_Q35K,Missense_Q35K,Missense_Q35K,Missense_Q35K,Missense_Q35K exm1474047 19 43032493 [A/G] NR_073180,NR_073179,NM_001205344,NM_001712,NM_001024912,NM_001184815,NM_001184813,NM_001184816 LOC100996307,LOC100996307,CEACAM1,CEACAM1,CEACAM1,CEACAM1,CEACAM1,CEACAM1 EXON Silent,Silent,Missense_R12C,Missense_R12C,Missense_R12C,Missense_R12C,Missense_R12C,Missense_R12C exm1474054 19 43087484 [A/C] NR_073180,NR_073179,NM_001816 LOC100996307,LOC100996307,CEACAM8 EXON Silent,Silent,Missense_L322V exm1474058 19 43093001 [A/G] NR_073180,NR_073179,NM_001816 LOC100996307,LOC100996307,CEACAM8 EXON Silent,Silent,Missense_A298V exm1474059 19 43093011 [T/C] NR_073180,NR_073179,NM_001816 LOC100996307,LOC100996307,CEACAM8 EXON Silent,Silent,Missense_G295R exm1474061 19 43093026 [T/C] NR_073180,NR_073179,NM_001816 LOC100996307,LOC100996307,CEACAM8 EXON Silent,Silent,Missense_T290A exm1474071 19 43093155 [T/C] NR_073180,NR_073179,NM_001816 LOC100996307,LOC100996307,CEACAM8 EXON Silent,Silent,Missense_T247A exm1474094 19 43097692 [T/C] NR_073180,NR_073179,NM_001816 LOC100996307,LOC100996307,CEACAM8 Silent,Silent,Silent exm1474095 19 43097693 [T/G] NR_073180,NR_073179,NM_001816 LOC100996307,LOC100996307,CEACAM8 EXON Silent,Silent,Missense_P142T exm1474104 19 43097788 [T/C] NR_073180,NR_073179,NM_001816 LOC100996307,LOC100996307,CEACAM8 EXON Silent,Silent,Missense_R110Q exm1940093 19 43097888 [A/G] NR_073180,NR_073179,NM_001816 LOC100996307,LOC100996307,CEACAM8 EXON Silent,Silent,Missense_R77C exm1474108 19 43097891 [T/G] NR_073180,NR_073179,NM_001816 LOC100996307,LOC100996307,CEACAM8 EXON Silent,Silent,Missense_N76H exm1940095 19 43097947 [T/C] NR_073180,NR_073179,NM_001816 LOC100996307,LOC100996307,CEACAM8 EXON Silent,Silent,Missense_N57S exm1474138 19 43233421 [T/C] NM_021016 PSG3 EXON Nonsense_W366X exm1474175 19 43237044 [T/C] NM_021016 PSG3 EXON Missense_T201A exm1474177 19 43237073 [T/G] NM_021016 PSG3 EXON Missense_H191P exm1474178 19 43237080 [T/C] NM_021016 PSG3 EXON Missense_M189V exm1474331 19 43262353 [A/C] NM_001130168,NM_001130167,NM_182707 PSG8,PSG8,PSG8 EXON Missense_D48E,Missense_D170E,Missense_D170E exm1474343 19 43268069 [A/G] NM_001130168,NM_001130167,NM_182707 PSG8,PSG8,PSG8 EXON Silent,Synonymous_Y143Y,Synonymous_Y143Y exm1474346 19 43268119 [G/C] NM_001130168,NM_001130167,NM_182707 PSG8,PSG8,PSG8 EXON Silent,Missense_G127R,Missense_G127R exm1474348 19 43268122 [T/G] NM_001130168,NM_001130167,NM_182707 PSG8,PSG8,PSG8 EXON Silent,Missense_M126L,Missense_M126L exm1474352 19 43268142 [T/G] NM_001130168,NM_001130167,NM_182707 PSG8,PSG8,PSG8 EXON Silent,Missense_S119Y,Missense_S119Y exm2272793 19 43344686 [T/C] NR_026824 PSG10P Silent exm1940261 19 43376055 [A/G] NM_001184825,NM_001184826,NM_006905 PSG1,PSG1,PSG1 EXON Synonymous_H191H,Synonymous_H191H,Synonymous_H191H exm2277166 19 43382100 [A/C] NM_001184825,NM_001184826,NM_006905 PSG1,PSG1,PSG1 EXON Missense_R132I,Missense_R132I,Missense_R132I exm1474505 19 43382118 [T/G] NM_001184825,NM_001184826,NM_006905 PSG1,PSG1,PSG1 EXON Missense_K126T,Missense_K126T,Missense_K126T exm1474506 19 43382122 [T/G] NM_001184825,NM_001184826,NM_006905 PSG1,PSG1,PSG1 EXON Missense_I125L,Missense_I125L,Missense_I125L exm2253870 19 43382147 [A/G] NM_001184825,NM_001184826,NM_006905 PSG1,PSG1,PSG1 EXON Synonymous_D116D,Synonymous_D116D,Synonymous_D116D exm1474534 19 43382340 [A/T] NM_001184825,NM_001184826,NM_006905 PSG1,PSG1,PSG1 EXON Missense_L52H,Missense_L52H,Missense_L52H exm1474569 19 43406575 [T/C] NM_001031850 PSG6 EXON Missense_E422K exm1474571 19 43406595 [A/G] NM_001031850 PSG6 EXON Missense_P415L exm1474635 19 43411914 [T/C] NM_001031850,NM_002782 PSG6,PSG6 EXON Missense_N267D,Missense_N267D exm1474643 19 43411959 [C/G] NM_001031850,NM_002782 PSG6,PSG6 EXON Missense_E252Q,Missense_E252Q exm2229384 19 43411997 [A/G] NM_001031850,NM_002782 PSG6,PSG6 EXON Missense_P239L,Missense_P239L exm1474666 19 43414890 [A/C] NM_001031850,NM_002782 PSG6,PSG6 EXON Missense_G183V,Missense_G183V exm1474689 19 43420313 [T/C] NM_001031850,NM_002782 PSG6,PSG6 EXON Missense_G131R,Missense_G131R exm1474690 19 43420322 [T/C] NM_001031850,NM_002782 PSG6,PSG6 EXON Missense_D128N,Missense_D128N exm1474692 19 43420327 [T/C] NM_001031850,NM_002782 PSG6,PSG6 EXON Missense_R126Q,Missense_R126Q exm1474704 19 43420405 [A/G] NM_001031850,NM_002782 PSG6,PSG6 EXON Missense_V100A,Missense_V100A exm1474705 19 43420408 [G/C] NM_001031850,NM_002782 PSG6,PSG6 EXON Missense_T99R,Missense_T99R exm1474706 19 43420415 [A/G] NM_001031850,NM_002782 PSG6,PSG6 EXON Nonsense_R97X,Nonsense_R97X exm1474708 19 43420439 [T/C] NM_001031850,NM_002782 PSG6,PSG6 EXON Missense_I89V,Missense_I89V exm1474726 19 43420565 [T/C] NM_001031850,NM_002782 PSG6,PSG6 EXON Missense_E47K,Missense_E47K exm1474728 19 43420570 [A/T] NM_001031850,NM_002782 PSG6,PSG6 EXON Missense_V45D,Missense_V45D exm1474799 19 43430802 [A/G] NR_073194,NM_001206650,NM_002783 PSG7,PSG7,PSG7 EXON Silent,Missense_T137I,Missense_T259I exm1474820 19 43433687 [A/C] NR_073194,NM_001206650,NM_002783 PSG7,PSG7,PSG7 EXON Silent,Missense_G84C,Missense_G206C exm1474830 19 43433773 [T/C] NR_073194,NM_001206650,NM_002783 PSG7,PSG7,PSG7 EXON Silent,Missense_S55N,Missense_S177N exm1474833 19 43433794 [T/C] NR_073194,NM_001206650,NM_002783 PSG7,PSG7,PSG7 EXON Silent,Missense_D48G,Missense_D170G exm1474861 19 43439628 [A/G] NR_073194,NM_001206650,NM_002783 PSG7,PSG7,PSG7 EXON Silent,Silent,Missense_Y120H exm1474874 19 43439793 [A/G] NR_073194,NM_001206650,NM_002783 PSG7,PSG7,PSG7 EXON Silent,Silent,Missense_H65Y exm1474893 19 43441194 [T/C] NR_073194,NM_001206650,NM_002783 PSG7,PSG7,PSG7 EXON Silent,Missense_H12R,Missense_H12R exm1474905 19 43519270 [A/G] NM_001113410,NM_002785,NM_203287 PSG11,PSG11,PSG11 EXON Missense_I199T,Missense_I321T,Missense_I199T exm1474907 19 43519304 [T/C] NM_001113410,NM_002785,NM_203287 PSG11,PSG11,PSG11 EXON Missense_E188K,Missense_E310K,Missense_E188K exm1474911 19 43519324 [A/G] NM_001113410,NM_002785,NM_203287 PSG11,PSG11,PSG11 EXON Missense_A181V,Missense_A303V,Missense_A181V exm1474920 19 43519442 [T/C] NM_001113410,NM_002785,NM_203287 PSG11,PSG11,PSG11 EXON Missense_N142D,Missense_N264D,Missense_N142D exm2229390 19 43523068 [T/G] NM_001113410,NM_002785,NM_203287 PSG11,PSG11,PSG11 EXON Missense_P66H,Missense_P188H,Missense_P66H exm2229393 19 43528980 [A/C] NM_001113410,NM_002785,NM_203287 PSG11,PSG11,PSG11 EXON Silent,Missense_R98L,Silent exm1475013 19 43575905 [T/C] NM_031246 PSG2 EXON Missense_R304H exm1475025 19 43576029 [T/C] NM_031246 PSG2 EXON Missense_A263T exm1475026 19 43576030 [A/G] NM_031246 PSG2 EXON Synonymous_F262F exm2229407 19 43679395 [T/G] NM_001130014,NM_002781 PSG5,PSG5 EXON Missense_S312R,Missense_S312R exm1475228 19 43689072 [A/G] NM_001130014,NM_002781 PSG5,PSG5 EXON Nonsense_R98X,Nonsense_R98X exm1475235 19 43689143 [T/G] NM_001130014,NM_002781 PSG5,PSG5 EXON Missense_D74A,Missense_D74A exm1475243 19 43689280 [T/C] NM_001130014,NM_002781 PSG5,PSG5 EXON Nonsense_W28X,Nonsense_W28X exm1475275 19 43698606 [A/G] NM_002780,NM_213633,NM_001276495 PSG4,PSG4,PSG4 EXON Nonsense_Q377X,Nonsense_Q284X,Nonsense_Q284X exm1475281 19 43698669 [T/C] NM_002780,NM_213633,NM_001276495 PSG4,PSG4,PSG4 EXON Missense_A356T,Missense_A263T,Missense_A263T exm2229413 19 43702341 [T/C] NM_002780,NM_213633,NM_001276495 PSG4,PSG4,PSG4 EXON Missense_T173A,Missense_T173A,Silent exm1940626 19 43702355 [G/C] NM_002780,NM_213633,NM_001276495 PSG4,PSG4,PSG4 EXON Missense_T168S,Missense_T168S,Silent exm1475439 19 43762551 [T/A] NM_002784 PSG9 EXON Missense_N349I exm1475505 19 43771960 [A/G] NM_002784 PSG9 EXON Nonsense_R136X exm1475509 19 43771987 [A/G] NM_002784 PSG9 EXON Nonsense_R127X exm1475510 19 43772010 [T/G] NM_002784 PSG9 EXON Missense_T119N exm1475511 19 43772025 [T/C] NM_002784 PSG9 EXON Missense_R114Q exm1475512 19 43772026 [A/G] NM_002784 PSG9 EXON Missense_R114W exm1475513 19 43772049 [G/C] NM_002784 PSG9 EXON Missense_S106C exm1475517 19 43772093 [A/C] NM_002784 PSG9 EXON Nonsense_Y91X exm1475522 19 43772148 [A/G] NM_002784 PSG9 EXON Missense_T73M exm1475532 19 43772302 [T/C] NM_002784 PSG9 Silent exm1475551 19 43857873 [C/G] NM_020406 CD177 EXON Missense_A3P exm1475553 19 43858044 [T/A] NM_020406 CD177 EXON Missense_H31L exm1475558 19 43858120 [C/G] NM_020406 CD177 EXON Missense_Q56H exm1475574 19 43859812 [C/G] NM_020406 CD177 Silent exm1475588 19 43864419 [T/G] NM_020406 CD177 EXON Missense_F208V exm1475589 19 43864426 [T/C] NM_020406 CD177 EXON Missense_T210I exm1475597 19 43864507 [T/C] NM_020406 CD177 EXON Missense_M237T exm1475624 19 43866335 [T/C] NM_020406 CD177 EXON Missense_R393C exm1475631 19 43866449 [A/G] NM_020406 CD177 EXON Missense_G431R exm1475637 19 43910673 [T/C] NM_031451 TEX101 Silent exm1475650 19 43920564 [T/C] NM_031451,NM_001130011 TEX101,TEX101 EXON Missense_P101L,Missense_P83L exm1475655 19 43920611 [A/G] NM_031451,NM_001130011 TEX101,TEX101 EXON Missense_G117S,Missense_G99S exm1475656 19 43920612 [T/G] NM_031451,NM_001130011 TEX101,TEX101 EXON Missense_G117V,Missense_G99V exm1475666 19 43922326 [T/C] NM_031451,NM_001130011 TEX101,TEX101 EXON Missense_I194T,Missense_I176T exm1475669 19 43922365 [T/C] NM_031451,NM_001130011 TEX101,TEX101 EXON Missense_I207T,Missense_I189T exm1475678 19 43965664 [A/G] NM_014400 LYPD3 EXON Missense_P294S exm1475685 19 43965819 [A/G] NM_014400 LYPD3 EXON Missense_P242L exm1940719 19 43965891 [T/C] NM_014400 LYPD3 EXON Missense_G218E exm1475693 19 43965943 [A/G] NM_014400 LYPD3 EXON Missense_R201W exm1475697 19 43967302 [T/C] NM_014400 LYPD3 EXON Missense_D174N exm1475707 19 43967780 [T/C] NM_014400 LYPD3 EXON Missense_N118S exm1940725 19 43967825 [A/C] NM_014400 LYPD3 EXON Missense_I103S exm1475718 19 43969653 [A/G] NM_014400 LYPD3 EXON Missense_L24P exm1475728 19 43979629 [A/C] NM_198850 PHLDB3 EXON Missense_S619I exm1475739 19 43983597 [T/C] NM_198850 PHLDB3 EXON Missense_R545H exm1475740 19 43983598 [A/G] NM_198850 PHLDB3 EXON Missense_R545C exm1475742 19 43983666 [A/G] NM_198850 PHLDB3 EXON Missense_P522L exm1475751 19 43990419 [A/G] NM_198850 PHLDB3 EXON Missense_T495M exm1475753 19 43990438 [A/G] NM_198850 PHLDB3 EXON Missense_P489S exm1475755 19 43990762 [T/C] NM_198850 PHLDB3 EXON Missense_R476Q exm1475759 19 43990795 [A/G] NM_198850 PHLDB3 EXON Missense_A465V exm2229425 19 43990816 [A/G] NM_198850 PHLDB3 EXON Missense_M458T exm2229426 19 43991011 [T/C] NM_198850 PHLDB3 EXON Missense_A421T exm1475773 19 43991203 [A/G] NM_198850 PHLDB3 EXON Missense_P408S exm2253876 19 43991204 [A/G] NM_198850 PHLDB3 EXON Synonymous_S407S exm1475776 19 43991217 [T/C] NM_198850 PHLDB3 EXON Missense_S403N exm1475777 19 43991221 [T/C] NM_198850 PHLDB3 EXON Missense_G402R exm1475780 19 43991255 [C/G] NM_198850 PHLDB3 EXON Missense_R390S exm1475788 19 43999466 [T/C] NM_198850 PHLDB3 EXON Missense_N326S exm1940761 19 43999748 [A/G] NM_198850 PHLDB3 EXON Missense_R284W exm1475793 19 44001280 [A/G] NM_198850 PHLDB3 EXON Missense_A272V exm1475802 19 44001379 [T/C] NM_198850 PHLDB3 EXON Missense_Q239R exm1475803 19 44001396 [T/A] NM_198850 PHLDB3 EXON Nonsense_Y233X exm1475813 19 44001983 [A/G] NM_198850 PHLDB3 EXON Missense_R194C exm1475816 19 44002004 [A/G] NM_198850 PHLDB3 EXON Missense_R187W exm1475819 19 44005903 [A/G] NM_198850 PHLDB3 EXON Missense_R173C exm1475824 19 44005987 [T/C] NM_198850 PHLDB3 EXON Missense_A145T exm1940773 19 44006318 [A/G] NM_198850 PHLDB3 EXON Missense_R111C exm1475826 19 44006342 [T/C] NM_198850 PHLDB3 EXON Missense_G103R exm1475850 19 44012113 [A/G] NM_014297 ETHE1 EXON Missense_P232L exm1475869 19 44030388 [A/T] NM_014297 ETHE1 EXON Missense_I114F exm1475876 19 44030709 [T/C] NM_014297 ETHE1 EXON Missense_A62T exm1475881 19 44030778 [C/G] NM_014297 ETHE1 EXON Missense_L39V exm1475919 19 44039564 [T/G] NM_174945 ZNF575 EXON Missense_S155A exm1475927 19 44039654 [G/C] NM_174945 ZNF575 EXON Missense_A185P exm1475941 19 44047554 [A/G] NM_006297 XRCC1 EXON Missense_P631L exm1475948 19 44047825 [T/G] NM_006297 XRCC1 EXON Missense_N576T exm1475950 19 44047839 [T/C] NM_006297 XRCC1 EXON Synonymous_G571G exm1475953 19 44048330 [A/G] NM_006297 XRCC1 EXON Missense_R560W exm1475954 19 44048332 [T/C] NM_006297 XRCC1 EXON Missense_R559Q exm1475983 19 44055726 [T/C] NM_006297 XRCC1 EXON Missense_Q399R exm1475988 19 44055777 [T/C] NM_006297 XRCC1 EXON Missense_R382H exm1476001 19 44056326 [A/G] NM_006297 XRCC1 EXON Missense_P309S exm1476003 19 44056341 [T/C] NM_006297 XRCC1 EXON Missense_T304A exm1940845 19 44056352 [T/C] NM_006297 XRCC1 EXON Missense_R300Q exm1476006 19 44056357 [T/G] NM_006297 XRCC1 EXON Missense_K298N exm1476009 19 44056400 [A/G] NM_006297 XRCC1 EXON Missense_T284I exm1476010 19 44056412 [T/C] NM_006297 XRCC1 EXON Missense_R280H exm1476011 19 44056954 [A/G] NM_006297 XRCC1 EXON Missense_P273L exm1476023 19 44057574 [A/G] NM_006297 XRCC1 EXON Missense_R194W exm1476033 19 44057768 [A/G] NM_006297 XRCC1 EXON Missense_P161L exm1476038 19 44058842 [A/G] NM_006297 XRCC1 EXON Missense_R124C exm1476040 19 44058851 [T/C] NM_006297 XRCC1 EXON Missense_A121T exm1476042 19 44058860 [A/G] NM_006297 XRCC1 EXON Missense_R118W exm1476045 19 44058892 [T/C] NM_006297 XRCC1 EXON Missense_R107H exm1476046 19 44058893 [A/G] NM_006297 XRCC1 EXON Missense_R107C exm2275079 19 44065115 [T/C] NM_006297 XRCC1 EXON Missense_V68M exm1476062 19 44079591 [A/C] NM_006297 XRCC1 EXON Missense_R7L exm1476067 19 44081288 [A/G] NM_001193621 PINLYP EXON Missense_H6R exm2264677 19 44090195 [A/C] NM_001007561 IRGQ EXON Silent exm1476079 19 44096263 [A/G] NM_001007561 IRGQ EXON Missense_A596V exm1476105 19 44096959 [T/C] NM_001007561 IRGQ EXON Missense_N364S exm1476111 19 44097182 [T/C] NM_001007561 IRGQ EXON Missense_A290T exm1476119 19 44097343 [T/C] NM_001007561 IRGQ EXON Missense_G236D exm1476125 19 44098979 [T/C] NM_001007561 IRGQ EXON Missense_Q171R exm1476126 19 44098985 [T/C] NM_001007561 IRGQ EXON Missense_Q169R exm1476127 19 44098986 [T/G] NM_001007561 IRGQ EXON Missense_Q169K exm1476149 19 44101316 [A/G] NM_024327,NM_001145347 ZNF576,ZNF576 EXON Missense_R19K,Missense_R19K exm1476150 19 44101319 [A/G] NM_024327,NM_001145347 ZNF576,ZNF576 EXON Missense_S20N,Missense_S20N exm1476153 19 44103010 [A/G] NM_024327,NM_001145347 ZNF576,ZNF576 EXON Missense_R38H,Missense_R38H exm1476159 19 44103139 [T/C] NM_024327,NM_001145347 ZNF576,ZNF576 EXON Missense_P81L,Missense_P81L exm1476162 19 44103183 [T/G] NM_024327,NM_001145347 ZNF576,ZNF576 EXON Missense_A96S,Missense_A96S exm1476168 19 44103288 [T/C] NM_024327,NM_001145347 ZNF576,ZNF576 EXON Missense_R131C,Missense_R131C exm1476207 19 44116609 [A/C] NM_182498,NM_001145641 ZNF428,SRRM5 EXON Silent,Missense_H112Q exm1476209 19 44116662 [A/G] NM_182498,NM_001145641 ZNF428,SRRM5 EXON Silent,Missense_R130H exm1476211 19 44116708 [A/G] NM_182498,NM_001145641 ZNF428,SRRM5 EXON Silent,Missense_I145M exm1476218 19 44116880 [A/G] NM_182498,NM_001145641 ZNF428,SRRM5 EXON Silent,Missense_G203S exm1476221 19 44116956 [A/G] NM_182498,NM_001145641 ZNF428,SRRM5 EXON Silent,Missense_K228R exm1476224 19 44117052 [T/C] NM_182498,NM_001145641 ZNF428,SRRM5 EXON Silent,Missense_T260I exm1476226 19 44117106 [T/C] NM_182498,NM_001145641 ZNF428,SRRM5 EXON Silent,Missense_P278L exm1476228 19 44117166 [T/C] NM_182498,NM_001145641 ZNF428,SRRM5 EXON Silent,Missense_T298M exm1476243 19 44117769 [A/G] NM_182498,NM_001145641 ZNF428,SRRM5 EXON Silent,Missense_R499Q exm1476257 19 44117961 [T/C] NM_182498,NM_001145641 ZNF428,SRRM5 EXON Silent,Missense_P563L exm1476259 19 44117985 [A/G] NM_182498,NM_001145641 ZNF428,SRRM5 EXON Silent,Missense_R571Q exm1476266 19 44118159 [T/A] NM_182498,NM_001145641 ZNF428,SRRM5 EXON Silent,Missense_H629L exm1476267 19 44118188 [A/C] NM_182498,NM_001145641 ZNF428,SRRM5 EXON Silent,Missense_S639R exm1476268 19 44118191 [A/G] NM_182498,NM_001145641 ZNF428,SRRM5 EXON Silent,Missense_D640N exm1476270 19 44118353 [A/G] NM_182498,NM_001145641 ZNF428,SRRM5 EXON Silent,Missense_D694N exm1476285 19 44128304 [A/G] NM_145296 CADM4 EXON Missense_V340A exm1476299 19 44130315 [T/C] NM_145296 CADM4 EXON Missense_G209R exm1476304 19 44130380 [T/C] NM_145296 CADM4 EXON Missense_R187H exm1476307 19 44130960 [A/G] NM_145296 CADM4 EXON Missense_Y159H exm1476312 19 44131324 [T/C] NM_145296 CADM4 EXON Missense_V120I exm1476323 19 44153044 [A/G] NM_001005376,NM_001005377,NM_002659 PLAUR,PLAUR,PLAUR EXON Silent,Missense_X291Q,Missense_X336Q exm1476325 19 44153100 [A/G] NM_001005376,NM_001005377,NM_002659 PLAUR,PLAUR,PLAUR EXON Silent,Missense_L272P,Missense_L317P exm1476327 19 44153204 [C/G] NM_001005376,NM_001005377,NM_002659 PLAUR,PLAUR,PLAUR EXON Silent,Missense_H237Q,Missense_H282Q exm1476328 19 44153207 [T/G] NM_001005376,NM_001005377,NM_002659 PLAUR,PLAUR,PLAUR EXON Silent,Missense_N236K,Missense_N281K exm1476329 19 44153248 [T/C] NM_001005376,NM_001005377,NM_002659 PLAUR,PLAUR,PLAUR EXON Silent,Missense_M223V,Missense_M268V exm1476334 19 44156378 [A/G] NM_001005376,NM_001005377,NM_002659 PLAUR,PLAUR,PLAUR EXON Synonymous_H251H,Synonymous_H206H,Synonymous_H251H exm1476338 19 44156461 [T/C] NM_001005376,NM_001005377,NM_002659 PLAUR,PLAUR,PLAUR EXON Missense_T224A,Missense_T179A,Missense_T224A exm1476340 19 44156472 [T/C] NM_001005376,NM_001005377,NM_002659 PLAUR,PLAUR,PLAUR EXON Missense_K220R,Missense_K175R,Missense_K220R exm1476342 19 44156490 [T/C] NM_001005376,NM_001005377,NM_002659 PLAUR,PLAUR,PLAUR EXON Missense_R214H,Missense_R169H,Missense_R214H exm1476343 19 44156502 [A/G] NM_001005376,NM_001005377,NM_002659 PLAUR,PLAUR,PLAUR EXON Missense_P210L,Missense_P165L,Missense_P210L exm1476346 19 44159662 [T/C] NM_001005376,NM_001005377,NM_002659 PLAUR,PLAUR,PLAUR EXON Missense_N179S,Silent,Missense_N179S exm1476357 19 44160789 [T/C] NM_001005376,NM_001005377,NM_002659 PLAUR,PLAUR,PLAUR EXON Missense_R105Q,Missense_R105Q,Missense_R105Q exm1476362 19 44169497 [T/C] NM_001005376,NM_001005377,NM_002659 PLAUR,PLAUR,PLAUR EXON Missense_G94E,Missense_G94E,Missense_G94E exm2253878 19 44169511 [A/G] NM_001005376,NM_001005377,NM_002659 PLAUR,PLAUR,PLAUR EXON Synonymous_T89T,Synonymous_T89T,Synonymous_T89T exm1476365 19 44169522 [T/C] NM_001005376,NM_001005377,NM_002659 PLAUR,PLAUR,PLAUR EXON Missense_T86A,Missense_T86A,Missense_T86A exm2268233 19 44187577 [A/G] exm1476382 19 44222792 [T/C] NM_019612 IRGC EXON Missense_R28C exm1476395 19 44223086 [G/C] NM_019612 IRGC EXON Missense_L126V exm1476396 19 44223113 [A/G] NM_019612 IRGC EXON Missense_D135N exm1476401 19 44223138 [T/G] NM_019612 IRGC EXON Missense_R143L exm1476406 19 44223180 [T/C] NM_019612 IRGC EXON Missense_L157P exm2253880 19 44223454 [A/C] NM_019612 IRGC EXON Synonymous_L248L exm1476421 19 44223536 [A/G] NM_019612 IRGC EXON Missense_V276I exm1476427 19 44223621 [T/G] NM_019612 IRGC EXON Missense_S304I exm1476434 19 44223721 [T/G] NM_019612 IRGC EXON Missense_E337D exm1476435 19 44223726 [T/C] NM_019612 IRGC EXON Missense_S339L exm1476441 19 44223833 [A/G] NM_019612 IRGC EXON Missense_G375S exm2275081 19 44223931 [A/C] NM_019612 IRGC EXON Missense_D407E exm1476448 19 44223959 [A/G] NM_019612 IRGC EXON Missense_V417M exm1476449 19 44223977 [A/G] NM_019612 IRGC EXON Missense_V423M exm1476452 19 44223990 [A/G] NM_019612 IRGC EXON Missense_G427D exm1476454 19 44223995 [A/G] NM_019612 IRGC EXON Missense_G429R exm1940985 19 44224026 [T/C] NM_019612 IRGC EXON Missense_S439L exm1476456 19 44224043 [A/G] NM_019612 IRGC EXON Missense_G445S exm1476459 19 44224085 [G/C] NM_019612 IRGC EXON Missense_D459H exm1476472 19 44237580 [T/C] NM_019108 SMG9 EXON Missense_N412S exm1476476 19 44237834 [T/C] NM_019108 SMG9 EXON Missense_R385Q exm1476478 19 44237864 [T/C] NM_019108 SMG9 EXON Missense_R375H exm1476518 19 44251938 [T/C] NM_019108 SMG9 EXON Missense_V113M exm1476522 19 44252048 [A/G] NM_019108 SMG9 EXON Missense_S76L exm1476523 19 44252159 [T/C] NM_019108 SMG9 EXON Missense_I66V exm1476538 19 44254761 [A/G] NM_019108 SMG9 EXON Missense_W45R exm1476561 19 44273693 [T/C] NM_002250 KCNN4 EXON Missense_R317Q exm2253882 19 44278508 [A/G] NM_002250 KCNN4 EXON Synonymous_V173V exm1476585 19 44278759 [T/C] NM_002250 KCNN4 EXON Missense_D90N exm1476586 19 44278764 [A/C] NM_002250 KCNN4 EXON Missense_M88R exm2253883 19 44280705 [A/G] NM_002250 KCNN4 EXON Synonymous_A81A exm1476589 19 44280715 [A/G] NM_002250 KCNN4 EXON Missense_A78V exm1476590 19 44280719 [T/C] NM_002250 KCNN4 EXON Missense_V77M exm1476602 19 44284965 [A/G] NM_002250 KCNN4 EXON Missense_R17C exm1476607 19 44285007 [T/C] NM_002250 KCNN4 EXON Missense_G3R exm1476623 19 44302609 [A/G] NM_001031749,NM_182573 LYPD5,LYPD5 EXON Missense_V172A,Missense_V129A exm1476624 19 44302624 [T/C] NM_001031749,NM_182573 LYPD5,LYPD5 EXON Missense_N167S,Missense_N124S exm1476640 19 44303139 [C/G] NM_001031749,NM_182573 LYPD5,LYPD5 EXON Synonymous_G65G,Synonymous_G22G exm1476642 19 44303911 [C/G] NM_001031749,NM_182573 LYPD5,LYPD5 EXON Missense_P47R,Missense_P4R exm1476644 19 44303972 [T/G] NM_001031749,NM_182573 LYPD5,LYPD5 EXON Missense_Q27K,Silent exm1476669 19 44351276 [T/G] NM_181845 ZNF283 EXON Missense_F175V exm1476670 19 44351298 [A/G] NM_181845 ZNF283 EXON Missense_Y182C exm1476673 19 44351432 [A/G] NM_181845 ZNF283 EXON Missense_R227G exm1941109 19 44351815 [A/G] NM_181845 ZNF283 EXON Synonymous_K354K exm1476696 19 44351825 [T/C] NM_181845 ZNF283 EXON Missense_R358C exm1476703 19 44351912 [A/G] NM_181845 ZNF283 EXON Missense_G387S exm1476718 19 44352264 [A/G] NM_181845 ZNF283 EXON Missense_R504Q exm1476720 19 44352389 [T/A] NM_181845 ZNF283 EXON Nonsense_K546X exm1476725 19 44352577 [T/G] NM_181845 ZNF283 EXON Missense_F608L exm1476726 19 44352639 [A/G] NM_181845 ZNF283 EXON Missense_R629H exm1476730 19 44352665 [T/C] NM_181845 ZNF283 EXON Missense_C638R exm1476731 19 44352666 [A/G] NM_181845 ZNF283 EXON Missense_C638Y exm1476732 19 44352680 [T/G] NM_181845 ZNF283 EXON Missense_V643F exm1476734 19 44352690 [T/G] NM_181845 ZNF283 EXON Missense_R646I exm1476742 19 44376789 [T/C] NM_001033719 ZNF404 EXON Missense_K523R exm1476744 19 44376849 [T/C] NM_001033719 ZNF404 EXON Missense_R503H exm1476753 19 44377048 [T/C] NM_001033719 ZNF404 EXON Missense_E437K exm1476755 19 44377205 [T/G] NM_001033719 ZNF404 EXON Missense_E384D exm1476758 19 44377350 [A/C] NM_001033719 ZNF404 EXON Missense_G336V exm1476759 19 44377357 [T/C] NM_001033719 ZNF404 EXON Missense_G334S exm1476770 19 44377614 [A/G] NM_001033719 ZNF404 EXON Missense_T248M exm1476773 19 44377669 [A/G] NM_001033719 ZNF404 EXON Missense_H230Y exm1476782 19 44377801 [A/G] NM_001033719 ZNF404 EXON Missense_C186R exm1476790 19 44378138 [A/C] NM_001033719 ZNF404 EXON Missense_N73K exm1476792 19 44378178 [T/C] NM_001033719 ZNF404 EXON Missense_Y60C exm1476793 19 44378224 [T/C] NM_001033719 ZNF404 EXON Missense_N45D exm1476795 19 44384163 [A/C] NM_001033719 ZNF404 EXON Missense_L42F exm1476806 19 44417544 [A/G] NM_003425 ZNF45 EXON Nonsense_R682X exm1941124 19 44417610 [A/G] NM_003425 ZNF45 EXON Nonsense_R660X exm1476827 19 44418077 [T/C] NM_003425 ZNF45 EXON Missense_R504K exm1476832 19 44418140 [T/C] NM_003425 ZNF45 EXON Missense_R483Q exm1476855 19 44418621 [T/C] NM_003425 ZNF45 EXON Missense_E323K exm1476856 19 44418627 [T/C] NM_003425 ZNF45 EXON Missense_A321T exm1476860 19 44418680 [C/G] NM_003425 ZNF45 EXON Missense_P303R exm1476861 19 44418693 [T/C] NM_003425 ZNF45 EXON Missense_T299A exm1476864 19 44418762 [A/G] NM_003425 ZNF45 EXON Missense_Y276H exm1476867 19 44418779 [T/G] NM_003425 ZNF45 EXON Missense_H270P exm1476869 19 44418824 [T/C] NM_003425 ZNF45 EXON Missense_R255K exm1476871 19 44418858 [T/C] NM_003425 ZNF45 EXON Missense_G244R exm1476874 19 44418951 [T/C] NM_003425 ZNF45 EXON Missense_V213I exm1476877 19 44418981 [A/G] NM_003425 ZNF45 EXON Missense_R203W exm1476882 19 44419053 [A/G] NM_003425 ZNF45 EXON Missense_L179F exm1476883 19 44419100 [G/C] NM_003425 ZNF45 EXON Missense_P163R exm1476885 19 44419110 [G/C] NM_003425 ZNF45 EXON Missense_G160R exm1476888 19 44419263 [C/G] NM_003425 ZNF45 EXON Missense_Q109E exm1476912 19 44469387 [A/G] NM_013359 ZNF221 EXON Missense_N71D exm1941189 19 44470012 [T/C] NM_013359 ZNF221 EXON Missense_W120R exm1476918 19 44470036 [A/C] NM_013359 ZNF221 EXON Missense_Q128K exm1476921 19 44470100 [A/G] NM_013359 ZNF221 EXON Missense_E149G exm1476923 19 44470147 [A/G] NM_013359 ZNF221 EXON Missense_V165M exm1476924 19 44470165 [T/C] NM_013359 ZNF221 EXON Missense_R171C exm1476926 19 44470177 [T/C] NM_013359 ZNF221 EXON Missense_C175R exm1476927 19 44470189 [T/A] NM_013359 ZNF221 EXON Missense_F179I exm1476933 19 44470331 [A/G] NM_013359 ZNF221 EXON Missense_Y226C exm1476934 19 44470342 [A/G] NM_013359 ZNF221 EXON Missense_V230M exm1476936 19 44470411 [T/C] NM_013359 ZNF221 EXON Missense_P253S exm1476938 19 44470420 [T/C] NM_013359 ZNF221 EXON Missense_C256R exm-IND19-49162439 19 44470600 [D/I] NM_013359 ZNF221 EXON exm1476951 19 44470663 [C/G] NM_013359 ZNF221 EXON Missense_A337P exm1476953 19 44470679 [T/C] NM_013359 ZNF221 EXON Missense_T342I exm1476954 19 44470696 [T/C] NM_013359 ZNF221 EXON Missense_R348C exm1476958 19 44470789 [T/C] NM_013359 ZNF221 EXON Nonsense_R379X exm1476959 19 44470817 [A/G] NM_013359 ZNF221 EXON Missense_H388R exm1476966 19 44470937 [G/C] NM_013359 ZNF221 EXON Missense_G428A exm1476967 19 44470952 [A/C] NM_013359 ZNF221 EXON Missense_T433K exm1476968 19 44470955 [A/T] NM_013359 ZNF221 EXON Missense_N434I exm1476969 19 44470960 [T/C] NM_013359 ZNF221 EXON Nonsense_R436X exm1476970 19 44470961 [A/G] NM_013359 ZNF221 EXON Missense_R436Q exm1476971 19 44470964 [A/G] NM_013359 ZNF221 EXON Missense_R437Q exm1476975 19 44471072 [T/C] NM_013359 ZNF221 EXON Missense_T473M exm1476980 19 44471209 [A/T] NM_013359 ZNF221 EXON Missense_S519T exm1477009 19 44500376 [T/C] NM_003445,NM_001260486,NM_001260487,NM_198089,NM_001260488 ZNF155,ZNF155,ZNF155,ZNF155,ZNF155 EXON Nonsense_Q123X,Nonsense_Q123X,Nonsense_Q123X,Nonsense_Q123X,Nonsense_Q134X exm1941219 19 44500475 [T/G] NM_003445,NM_001260486,NM_001260487,NM_198089,NM_001260488 ZNF155,ZNF155,ZNF155,ZNF155,ZNF155 EXON Missense_S156A,Missense_S156A,Missense_S156A,Missense_S156A,Missense_S167A exm1477024 19 44500671 [T/C] NM_003445,NM_001260486,NM_001260487,NM_198089,NM_001260488 ZNF155,ZNF155,ZNF155,ZNF155,ZNF155 EXON Missense_T221I,Missense_T221I,Missense_T221I,Missense_T221I,Missense_T232I exm1477027 19 44500701 [T/C] NM_003445,NM_001260486,NM_001260487,NM_198089,NM_001260488 ZNF155,ZNF155,ZNF155,ZNF155,ZNF155 EXON Missense_P231L,Missense_P231L,Missense_P231L,Missense_P231L,Missense_P242L exm2253884 19 44500759 [T/C] NM_003445,NM_001260486,NM_001260487,NM_198089,NM_001260488 ZNF155,ZNF155,ZNF155,ZNF155,ZNF155 EXON Synonymous_H250H,Synonymous_H250H,Synonymous_H250H,Synonymous_H250H,Synonymous_H261H exm1477031 19 44500761 [A/G] NM_003445,NM_001260486,NM_001260487,NM_198089,NM_001260488 ZNF155,ZNF155,ZNF155,ZNF155,ZNF155 EXON Missense_R251H,Missense_R251H,Missense_R251H,Missense_R251H,Missense_R262H exm1477037 19 44500952 [T/C] NM_003445,NM_001260486,NM_001260487,NM_198089,NM_001260488 ZNF155,ZNF155,ZNF155,ZNF155,ZNF155 EXON Missense_P315S,Missense_P315S,Missense_P315S,Missense_P315S,Missense_P326S exm1477053 19 44501145 [A/G] NM_003445,NM_001260486,NM_001260487,NM_198089,NM_001260488 ZNF155,ZNF155,ZNF155,ZNF155,ZNF155 EXON Missense_K379R,Missense_K379R,Missense_K379R,Missense_K379R,Missense_K390R exm1477059 19 44501243 [A/G] NM_003445,NM_001260486,NM_001260487,NM_198089,NM_001260488 ZNF155,ZNF155,ZNF155,ZNF155,ZNF155 EXON Missense_N412D,Missense_N412D,Missense_N412D,Missense_N412D,Missense_N423D exm1477077 19 44501481 [A/G] NM_003445,NM_001260486,NM_001260487,NM_198089,NM_001260488 ZNF155,ZNF155,ZNF155,ZNF155,ZNF155 EXON Missense_K491R,Missense_K491R,Missense_K491R,Missense_K491R,Missense_K502R exm-rs2191566 19 44511389 [T/G] NM_006300 ZNF230 Silent exm1477096 19 44513250 [T/C] NM_006300 ZNF230 EXON Missense_H53Y exm1477098 19 44514422 [T/C] NM_006300 ZNF230 EXON Synonymous_G77G exm1477099 19 44514423 [A/G] NM_006300 ZNF230 EXON Missense_G78S exm1477100 19 44514436 [T/C] NM_006300 ZNF230 EXON Missense_A82V exm1477107 19 44514699 [T/G] NM_006300 ZNF230 EXON Missense_C170G exm1477109 19 44514741 [T/C] NM_006300 ZNF230 EXON Missense_R184C exm1477110 19 44514793 [A/G] NM_006300 ZNF230 EXON Missense_R201H exm1477112 19 44514828 [A/G] NM_006300 ZNF230 EXON Missense_T213A exm1477113 19 44514859 [T/C] NM_006300 ZNF230 EXON Missense_P223L exm1477117 19 44514895 [A/G] NM_006300 ZNF230 EXON Missense_C235Y exm1477118 19 44514901 [T/C] NM_006300 ZNF230 EXON Missense_A237V exm1477122 19 44515027 [T/C] NM_006300 ZNF230 EXON Missense_P279L exm1477128 19 44515137 [A/G] NM_006300 ZNF230 EXON Missense_G316S exm1477145 19 44515514 [A/C] NM_006300 ZNF230 EXON Missense_D441E exm2229460 19 44515541 [T/G] NM_006300 ZNF230 EXON Missense_C450W exm1477157 19 44530227 [T/G] NM_013360,NM_001129996 ZNF222,ZNF222 EXON Missense_A2S,Silent exm1477165 19 44535975 [A/G] NM_013360,NM_001129996 ZNF222,ZNF222 EXON Missense_K50E,Missense_K90E exm1477166 19 44535999 [T/G] NM_013360,NM_001129996 ZNF222,ZNF222 EXON Missense_V58F,Missense_V98F exm1477169 19 44536071 [A/G] NM_013360,NM_001129996 ZNF222,ZNF222 EXON Missense_R82G,Missense_R122G exm1477172 19 44536123 [A/G] NM_013360,NM_001129996 ZNF222,ZNF222 EXON Missense_N99S,Missense_N139S exm1477174 19 44536181 [C/G] NM_013360,NM_001129996 ZNF222,ZNF222 EXON Missense_Q118H,Missense_Q158H exm1477176 19 44536189 [A/G] NM_013360,NM_001129996 ZNF222,ZNF222 EXON Missense_N121S,Missense_N161S exm1477177 19 44536192 [A/G] NM_013360,NM_001129996 ZNF222,ZNF222 EXON Missense_C122Y,Missense_C162Y exm1477179 19 44536227 [T/C] NM_013360,NM_001129996 ZNF222,ZNF222 EXON Missense_L134F,Missense_L174F exm1477181 19 44536242 [T/C] NM_013360,NM_001129996 ZNF222,ZNF222 EXON Missense_Y139H,Missense_Y179H exm1477191 19 44536509 [C/G] NM_013360,NM_001129996 ZNF222,ZNF222 EXON Missense_P228A,Missense_P268A exm1477217 19 44537053 [A/G] NM_013360,NM_001129996 ZNF222,ZNF222 EXON Missense_R409Q,Missense_R449Q exm1477228 19 44564980 [A/G] NM_013361 ZNF223 EXON Missense_R74K exm1941282 19 44570270 [A/G] NM_013361 ZNF223 EXON Missense_G97R exm1477237 19 44570393 [A/C] NM_013361 ZNF223 EXON Missense_L138I exm1477239 19 44570420 [T/C] NM_013361 ZNF223 EXON Missense_P147S exm1477242 19 44570460 [T/C] NM_013361 ZNF223 EXON Missense_M160T exm1477244 19 44570489 [T/C] NM_013361 ZNF223 EXON Missense_R170C exm1477245 19 44570516 [G/C] NM_013361 ZNF223 EXON Missense_D179H exm1477258 19 44570957 [A/G] NM_013361 ZNF223 EXON Missense_I326V exm1477260 19 44570988 [T/C] NM_013361 ZNF223 EXON Missense_T336M exm1477273 19 44571260 [A/C] NM_013361 ZNF223 EXON Missense_P427T exm1477274 19 44571264 [T/G] NM_013361 ZNF223 EXON Missense_F428C exm1477275 19 44571291 [T/C] NM_013361 ZNF223 EXON Missense_L437P exm1477276 19 44571300 [A/G] NM_013361 ZNF223 EXON Missense_R440Q exm1477278 19 44571371 [T/C] NM_013361 ZNF223 EXON Missense_R464C exm1477300 19 44586169 [A/G] NM_001037813 ZNF284 EXON Missense_H49R exm1477307 19 44589909 [A/G] NM_001037813 ZNF284 EXON Missense_G93E exm1477319 19 44590136 [T/C] NM_001037813 ZNF284 EXON Missense_H169Y exm1941301 19 44590164 [A/G] NM_001037813 ZNF284 EXON Missense_N178S exm1477323 19 44590334 [T/C] NM_001037813 ZNF284 EXON Nonsense_Q235X exm1477325 19 44590356 [A/G] NM_001037813 ZNF284 EXON Missense_R242H exm1477326 19 44590380 [A/G] NM_001037813 ZNF284 EXON Missense_C250Y exm1941302 19 44590505 [A/T] NM_001037813 ZNF284 EXON Missense_C292S exm1477341 19 44590661 [A/C] NM_001037813 ZNF284 EXON Missense_K344Q exm1477347 19 44590851 [T/G] NM_001037813 ZNF284 EXON Missense_R407I exm1477348 19 44590874 [T/C] NM_001037813 ZNF284 EXON Missense_H415Y exm1477356 19 44590996 [T/A] NM_001037813 ZNF284 EXON Nonsense_Y455X exm1477359 19 44591147 [A/G] NM_001037813 ZNF284 EXON Missense_T506A exm1477394 19 44610665 [A/G] NM_013398,NR_033341 ZNF224,LOC100379224 EXON Missense_M118V,Silent exm1477399 19 44610798 [T/A] NM_013398,NR_033341 ZNF224,LOC100379224 EXON Missense_H162L,Silent exm1477400 19 44610842 [A/G] NM_013398,NR_033341 ZNF224,LOC100379224 EXON Missense_T177A,Silent exm1477401 19 44610843 [T/C] NM_013398,NR_033341 ZNF224,LOC100379224 EXON Missense_T177M,Silent exm1477413 19 44611092 [A/G] NM_013398,NR_033341 ZNF224,LOC100379224 EXON Missense_Y260C,Silent exm1477414 19 44611135 [T/G] NM_013398,NR_033341 ZNF224,LOC100379224 EXON Missense_Q274H,Silent exm2253886 19 44611225 [T/C] NM_013398,NR_033341 ZNF224,LOC100379224 EXON Synonymous_N304N,Silent exm1477421 19 44611245 [T/C] NM_013398,NR_033341 ZNF224,LOC100379224 EXON Missense_T311M,Silent exm1477425 19 44611299 [C/G] NM_013398,NR_033341 ZNF224,LOC100379224 EXON Nonsense_S329X,Silent exm1477426 19 44611317 [A/G] NM_013398,NR_033341 ZNF224,LOC100379224 EXON Missense_R335H,Silent exm1477428 19 44611339 [A/C] NM_013398,NR_033341 ZNF224,LOC100379224 EXON Missense_K342N,Silent exm1477433 19 44611383 [A/G] NM_013398,NR_033341 ZNF224,LOC100379224 EXON Missense_R357Q,Silent exm1477436 19 44611439 [C/G] NM_013398,NR_033341 ZNF224,LOC100379224 EXON Missense_E376Q,Silent exm1477437 19 44611467 [T/C] NM_013398,NR_033341 ZNF224,LOC100379224 EXON Missense_S385L,Silent exm1477439 19 44611493 [T/C] NM_013398,NR_033341 ZNF224,LOC100379224 EXON Missense_H394Y,Silent exm1477446 19 44611654 [T/G] NM_013398,NR_033341 ZNF224,LOC100379224 EXON Missense_Q447H,Silent exm1477448 19 44611656 [A/G] NM_013398,NR_033341 ZNF224,LOC100379224 EXON Missense_R448H,Silent exm1477453 19 44611820 [T/C] NM_013398,NR_033341 ZNF224,LOC100379224 EXON Nonsense_Q503X,Silent exm2229468 19 44611829 [C/G] NM_013398,NR_033341 ZNF224,LOC100379224 EXON Missense_H506D,Silent exm1477461 19 44611971 [T/C] NM_013398,NR_033341 ZNF224,LOC100379224 EXON Missense_S553L,Silent exm1477468 19 44612136 [T/C] NM_013398,NR_033341 ZNF224,LOC100379224 EXON Missense_S608F,Silent exm1477469 19 44612169 [T/G] NM_013398,NR_033341 ZNF224,LOC100379224 EXON Missense_S619I,Silent exm1941330 19 44612360 [A/G] NM_013398,NR_033341 ZNF224,LOC100379224 EXON Missense_R683G,Silent exm1941331 19 44612395 [A/C] NM_013398,NR_033341 ZNF224,LOC100379224 EXON Missense_S694R,Silent exm-rs2061332 19 44613661 [A/C] NR_033341 LOC100379224 Silent exm-rs2061333 19 44614208 [T/C] NR_033341 LOC100379224 Silent exm1941339 19 44619988 [T/C] NM_013362 ZNF225 EXON Missense_T3M exm1477485 19 44622348 [T/C] NM_013362 ZNF225 EXON Missense_V8A exm1477490 19 44622458 [T/C] NM_013362 ZNF225 EXON Missense_L45F exm1477493 19 44622641 [A/G] NM_013362 ZNF225 EXON Missense_Q50R exm1477496 19 44622680 [A/G] NM_013362 ZNF225 EXON Missense_E63G exm1477502 19 44635024 [T/C] NM_013362 ZNF225 EXON Missense_M86T exm1477505 19 44635143 [A/G] NM_013362 ZNF225 EXON Missense_K126E exm1477511 19 44635495 [A/G] NM_013362 ZNF225 EXON Missense_R243H exm1477513 19 44635518 [T/C] NM_013362 ZNF225 EXON Missense_R251C exm1477518 19 44635699 [T/C] NM_013362 ZNF225 EXON Missense_M311T exm1477519 19 44635702 [A/G] NM_013362 ZNF225 EXON Missense_R312Q exm1477522 19 44635822 [A/G] NM_013362 ZNF225 EXON Missense_R352H exm1477528 19 44635899 [A/G] NM_013362 ZNF225 EXON Missense_G378R exm1477530 19 44635948 [A/G] NM_013362 ZNF225 EXON Missense_H394R exm1477532 19 44636010 [T/C] NM_013362 ZNF225 EXON Missense_R415C exm1477545 19 44636112 [A/G] NM_013362 ZNF225 EXON Missense_V449I exm1477546 19 44636131 [G/C] NM_013362 ZNF225 EXON Missense_P455R exm1477563 19 44636464 [A/G] NM_013362 ZNF225 EXON Missense_R566K exm2275083 19 44636465 [A/C] NM_013362 ZNF225 EXON Missense_R566S exm1477565 19 44636503 [A/G] NM_013362 ZNF225 EXON Missense_R579Q exm1941364 19 44636575 [A/G] NM_013362 ZNF225 EXON Missense_K603R exm2229475 19 44636727 [T/C] NM_013362 ZNF225 EXON Missense_C654R exm1477573 19 44636730 [A/G] NM_013362 ZNF225 EXON Missense_E655K exm1477574 19 44636749 [T/C] NM_013362 ZNF225 EXON Missense_I661T exm1477577 19 44636802 [A/T] NM_013362 ZNF225 EXON Missense_T679S exm1477580 19 44636857 [T/C] NM_013362 ZNF225 EXON Missense_T697M exm1477592 19 44652954 [A/G] NM_006630,NM_001144824 ZNF234,ZNF234 EXON Missense_V16I,Missense_V16I exm1477599 19 44660524 [A/C] NM_006630,NM_001144824 ZNF234,ZNF234 EXON Missense_I119L,Missense_I119L exm1477601 19 44660537 [A/G] NM_006630,NM_001144824 ZNF234,ZNF234 EXON Missense_R123Q,Missense_R123Q exm1477603 19 44660559 [T/G] NM_006630,NM_001144824 ZNF234,ZNF234 EXON Missense_L130F,Missense_L130F exm1477604 19 44660597 [C/G] NM_006630,NM_001144824 ZNF234,ZNF234 EXON Missense_T143R,Missense_T143R exm2229476 19 44660679 [C/G] NM_006630,NM_001144824 ZNF234,ZNF234 EXON Missense_H170Q,Missense_H170Q exm1477616 19 44660897 [A/G] NM_006630,NM_001144824 ZNF234,ZNF234 EXON Missense_R243H,Missense_R243H exm1477619 19 44660997 [C/G] NM_006630,NM_001144824 ZNF234,ZNF234 EXON Missense_Q276H,Missense_Q276H exm1941377 19 44661040 [A/G] NM_006630,NM_001144824 ZNF234,ZNF234 EXON Missense_D291N,Missense_D291N exm1477625 19 44661139 [T/C] NM_006630,NM_001144824 ZNF234,ZNF234 EXON Missense_C324R,Missense_C324R exm1477631 19 44661257 [A/G] NM_006630,NM_001144824 ZNF234,ZNF234 EXON Missense_R363Q,Missense_R363Q exm1477637 19 44661427 [A/G] NM_006630,NM_001144824 ZNF234,ZNF234 EXON Missense_V420I,Missense_V420I exm1477638 19 44661455 [A/C] NM_006630,NM_001144824 ZNF234,ZNF234 EXON Missense_K429T,Missense_K429T exm1477660 19 44661962 [T/G] NM_006630,NM_001144824 ZNF234,ZNF234 EXON Missense_C598F,Missense_C598F exm1477662 19 44661974 [A/G] NM_006630,NM_001144824 ZNF234,ZNF234 EXON Missense_G602E,Missense_G602E exm1941384 19 44662139 [A/G] NM_006630,NM_001144824 ZNF234,ZNF234 EXON Missense_C657Y,Missense_C657Y exm1477673 19 44662246 [T/C] NM_006630,NM_001144824 ZNF234,ZNF234 EXON Missense_S693P,Missense_S693P exm2229479 19 44669960 [T/C] NM_001146220,NM_001032374,NM_015919,NM_001032373,NM_001032372 ZNF226,ZNF226,ZNF226,ZNF226,ZNF226 EXON Silent,Silent,Silent,Silent,Silent exm1477680 19 44674234 [A/C] NM_001146220,NM_001032374,NM_015919,NM_001032373,NM_001032372 ZNF226,ZNF226,ZNF226,ZNF226,ZNF226 EXON Missense_M1L,Missense_M1L,Missense_M1L,Missense_M1L,Missense_M1L exm1477688 19 44676340 [A/G] NM_001146220,NM_001032374,NM_015919,NM_001032373,NM_001032372 ZNF226,ZNF226,ZNF226,ZNF226,ZNF226 EXON Missense_E39K,Missense_E39K,Missense_E39K,Missense_E39K,Missense_E39K exm1477692 19 44677061 [A/G] NM_001146220,NM_001032374,NM_015919,NM_001032373,NM_001032372 ZNF226,ZNF226,ZNF226,ZNF226,ZNF226 EXON Missense_Q64R,Missense_Q64R,Missense_Q64R,Missense_Q64R,Missense_Q64R exm1477697 19 44679145 [T/C] NM_001146220,NM_001032374,NM_015919,NM_001032373,NM_001032372 ZNF226,ZNF226,ZNF226,ZNF226,ZNF226 EXON Missense_L82F,Missense_L82F,Missense_L82F,Silent,Silent exm1477698 19 44679149 [T/A] NM_001146220,NM_001032374,NM_015919,NM_001032373,NM_001032372 ZNF226,ZNF226,ZNF226,ZNF226,ZNF226 EXON Missense_V83E,Missense_V83E,Missense_V83E,Silent,Silent exm1477700 19 44679167 [A/G] NM_001146220,NM_001032374,NM_015919,NM_001032373,NM_001032372 ZNF226,ZNF226,ZNF226,ZNF226,ZNF226 EXON Missense_Y89C,Missense_Y89C,Missense_Y89C,Silent,Silent exm1477704 19 44679774 [A/G] NM_001032373,NM_001032372 ZNF226,ZNF226 EXON Missense_N120S,Missense_N120S exm1477709 19 44680010 [T/C] NM_001032373,NM_001032372 ZNF226,ZNF226 EXON Missense_C199R,Missense_C199R exm1477714 19 44680115 [A/G] NM_001032373,NM_001032372 ZNF226,ZNF226 EXON Missense_M234V,Missense_M234V exm1477715 19 44680155 [T/C] NM_001032373,NM_001032372 ZNF226,ZNF226 EXON Missense_T247I,Missense_T247I exm1477717 19 44680242 [A/G] NM_001032373,NM_001032372 ZNF226,ZNF226 EXON Missense_G276E,Missense_G276E exm1477721 19 44680403 [A/G] NM_001032373,NM_001032372 ZNF226,ZNF226 EXON Missense_V330M,Missense_V330M exm1477722 19 44680422 [A/G] NM_001032373,NM_001032372 ZNF226,ZNF226 EXON Missense_K336R,Missense_K336R exm1941416 19 44680424 [T/C] NM_001032373,NM_001032372 ZNF226,ZNF226 EXON Missense_C337R,Missense_C337R exm1477724 19 44680451 [T/C] NM_001032373,NM_001032372 ZNF226,ZNF226 EXON Missense_R346C,Missense_R346C exm1477732 19 44680843 [A/G] NM_001032373,NM_001032372 ZNF226,ZNF226 EXON Missense_I476M,Missense_I476M exm1477733 19 44680844 [T/C] NM_001032373,NM_001032372 ZNF226,ZNF226 EXON Missense_C477R,Missense_C477R exm1477746 19 44681185 [A/C] NM_001032373,NM_001032372 ZNF226,ZNF226 EXON Missense_E590D,Missense_E590D exm1477751 19 44681252 [T/A] NM_001032373,NM_001032372 ZNF226,ZNF226 EXON Nonsense_K613X,Nonsense_K613X exm1477767 19 44681715 [A/G] NM_001032373,NM_001032372 ZNF226,ZNF226 EXON Missense_R767Q,Missense_R767Q exm1477768 19 44681717 [T/G] NM_001032373,NM_001032372 ZNF226,ZNF226 EXON Missense_S768A,Missense_S768A exm1477769 19 44681720 [A/G] NM_001032373,NM_001032372 ZNF226,ZNF226 EXON Missense_N769D,Missense_N769D exm1477772 19 44681795 [T/G] NM_001032373,NM_001032372 ZNF226,ZNF226 EXON Nonsense_E794X,Nonsense_E794X exm1477776 19 44721957 [G/C] NM_182490 ZNF227 EXON Missense_Q4H exm1477779 19 44721979 [A/C] NM_182490 ZNF227 EXON Missense_K12Q exm2229481 19 44738879 [T/A] NM_182490 ZNF227 EXON Missense_E99V exm1477796 19 44739031 [A/G] NM_182490 ZNF227 EXON Missense_E150K exm1477828 19 44739730 [A/G] NM_182490 ZNF227 EXON Missense_E383K exm1477841 19 44740013 [T/C] NM_182490 ZNF227 EXON Missense_T477I exm1477846 19 44740137 [A/C] NM_182490 ZNF227 EXON Missense_K518N exm1477847 19 44740138 [T/C] NM_182490 ZNF227 EXON Nonsense_R519X exm1477851 19 44740307 [T/C] NM_182490 ZNF227 EXON Missense_P575L exm1477856 19 44740441 [T/C] NM_182490 ZNF227 EXON Missense_R620W exm1477876 19 44740928 [A/G] NM_182490 ZNF227 EXON Missense_R782H exm1477891 19 44777053 [A/G] NM_001207005,NM_181756 ZNF233,ZNF233 EXON Synonymous_G80G,Synonymous_G80G exm1477892 19 44777087 [A/G] NM_001207005,NM_181756 ZNF233,ZNF233 EXON Missense_E92K,Missense_E92K exm1477897 19 44777150 [A/G] NM_001207005,NM_181756 ZNF233,ZNF233 EXON Missense_T113A,Missense_T113A exm1941471 19 44777192 [C/G] NM_001207005,NM_181756 ZNF233,ZNF233 EXON Missense_Q127E,Missense_Q127E exm1477902 19 44777361 [A/G] NM_001207005,NM_181756 ZNF233,ZNF233 EXON Nonsense_W183X,Nonsense_W183X exm1477903 19 44777395 [A/T] NM_001207005,NM_181756 ZNF233,ZNF233 EXON Nonsense_Y194X,Nonsense_Y194X exm1477906 19 44777525 [A/G] NM_001207005,NM_181756 ZNF233,ZNF233 EXON Missense_N238D,Missense_N238D exm1477907 19 44777552 [T/C] NM_001207005,NM_181756 ZNF233,ZNF233 EXON Missense_S247P,Missense_S247P exm1477913 19 44777686 [A/C] NM_001207005,NM_181756 ZNF233,ZNF233 EXON Nonsense_Y291X,Nonsense_Y291X exm1477916 19 44777754 [A/G] NM_001207005,NM_181756 ZNF233,ZNF233 EXON Missense_Y314C,Missense_Y314C exm1477921 19 44777848 [C/G] NM_001207005,NM_181756 ZNF233,ZNF233 EXON Missense_Q345H,Missense_Q345H exm1477923 19 44777862 [A/G] NM_001207005,NM_181756 ZNF233,ZNF233 EXON Missense_S350N,Missense_S350N exm1477927 19 44777936 [T/G] NM_001207005,NM_181756 ZNF233,ZNF233 EXON Missense_C375G,Missense_C375G exm1477935 19 44778178 [T/G] NM_001207005,NM_181756 ZNF233,ZNF233 EXON Missense_E455D,Missense_E455D exm1477951 19 44778402 [A/G] NM_001207005,NM_181756 ZNF233,ZNF233 EXON Missense_H530R,Missense_H530R exm1477952 19 44778405 [A/C] NM_001207005,NM_181756 ZNF233,ZNF233 EXON Missense_K531T,Missense_K531T exm1477956 19 44778489 [A/C] NM_001207005,NM_181756 ZNF233,ZNF233 EXON Missense_T559N,Missense_T559N exm1477957 19 44778555 [T/C] NM_001207005,NM_181756 ZNF233,ZNF233 EXON Missense_A581V,Missense_A581V exm1941487 19 44778738 [A/G] NM_001207005,NM_181756 ZNF233,ZNF233 EXON Missense_H642R,Missense_H642R exm1477963 19 44778744 [A/G] NM_001207005,NM_181756 ZNF233,ZNF233 EXON Missense_G644E,Missense_G644E exm1477976 19 44791489 [A/G] NM_004234 ZNF235 EXON Missense_T700I exm1477977 19 44791537 [A/G] NM_004234 ZNF235 EXON Missense_T684M exm1477989 19 44791807 [T/G] NM_004234 ZNF235 EXON Missense_T594N exm1477990 19 44791814 [T/C] NM_004234 ZNF235 EXON Missense_V592I exm1478014 19 44792273 [A/G] NM_004234 ZNF235 EXON Missense_R439C exm1478017 19 44792453 [T/C] NM_004234 ZNF235 EXON Missense_S379G exm1478027 19 44792650 [T/C] NM_004234 ZNF235 EXON Missense_R313H exm1478028 19 44792651 [A/G] NM_004234 ZNF235 EXON Missense_R313C exm1478031 19 44792701 [T/G] NM_004234 ZNF235 EXON Missense_H296P exm1478033 19 44792739 [G/C] NM_004234 ZNF235 EXON Missense_Q283H exm1478036 19 44792821 [A/C] NM_004234 ZNF235 EXON Missense_I256S exm1478047 19 44793080 [C/G] NM_004234 ZNF235 EXON Missense_E170Q exm1478054 19 44793236 [T/C] NM_004234 ZNF235 EXON Missense_R118G exm1478056 19 44793278 [A/G] NM_004234 ZNF235 EXON Missense_S104P exm1478058 19 44793322 [G/C] NM_004234 ZNF235 EXON Missense_T89S exm1478073 19 44831658 [T/G] NM_013380,NM_001083335 ZFP112,ZFP112 EXON Missense_K884N,Missense_K890N exm1478080 19 44831989 [T/G] NM_013380,NM_001083335 ZFP112,ZFP112 EXON Missense_E774A,Missense_E780A exm1478082 19 44832043 [A/G] NM_013380,NM_001083335 ZFP112,ZFP112 EXON Missense_S756L,Missense_S762L exm1478088 19 44832191 [T/G] NM_013380,NM_001083335 ZFP112,ZFP112 EXON Missense_S707R,Missense_S713R exm1478114 19 44832875 [A/G] NM_013380,NM_001083335 ZFP112,ZFP112 EXON Missense_Y479H,Missense_Y485H exm1478117 19 44832943 [T/G] NM_013380,NM_001083335 ZFP112,ZFP112 EXON Missense_Q456P,Missense_Q462P exm1478119 19 44832992 [G/C] NM_013380,NM_001083335 ZFP112,ZFP112 EXON Missense_E440Q,Missense_E446Q exm1478120 19 44833000 [T/C] NM_013380,NM_001083335 ZFP112,ZFP112 EXON Missense_Y437C,Missense_Y443C exm1478122 19 44833076 [T/C] NM_013380,NM_001083335 ZFP112,ZFP112 EXON Missense_I412V,Missense_I418V exm1478125 19 44833162 [T/A] NM_013380,NM_001083335 ZFP112,ZFP112 EXON Missense_Y383F,Missense_Y389F exm1941535 19 44833240 [A/G] NM_013380,NM_001083335 ZFP112,ZFP112 EXON Missense_I357T,Missense_I363T exm1478134 19 44833378 [T/C] NM_013380,NM_001083335 ZFP112,ZFP112 EXON Missense_H311R,Missense_H317R exm1478138 19 44833468 [T/G] NM_013380,NM_001083335 ZFP112,ZFP112 EXON Missense_T281K,Missense_T287K exm1478141 19 44833501 [T/G] NM_013380,NM_001083335 ZFP112,ZFP112 EXON Missense_H270P,Missense_H276P exm1478153 19 44833645 [T/C] NM_013380,NM_001083335 ZFP112,ZFP112 EXON Missense_K222R,Missense_K228R exm1478155 19 44833840 [T/C] NM_013380,NM_001083335 ZFP112,ZFP112 EXON Missense_G157E,Missense_G163E exm1478156 19 44833851 [G/C] NM_013380,NM_001083335 ZFP112,ZFP112 EXON Missense_F153L,Missense_F159L exm1478157 19 44833855 [A/G] NM_013380,NM_001083335 ZFP112,ZFP112 EXON Missense_I152T,Missense_I158T exm1478160 19 44833888 [A/G] NM_013380,NM_001083335 ZFP112,ZFP112 EXON Missense_I141T,Missense_I147T exm1478166 19 44834011 [T/C] NM_013380,NM_001083335 ZFP112,ZFP112 EXON Missense_R100H,Missense_R106H exm1478167 19 44834012 [A/G] NM_013380,NM_001083335 ZFP112,ZFP112 EXON Missense_R100C,Missense_R106C exm1478169 19 44834069 [T/C] NM_013380,NM_001083335 ZFP112,ZFP112 EXON Missense_M81V,Missense_M87V exm2253888 19 44890727 [T/C] NM_152354 ZNF285 EXON Synonymous_R560R exm1478204 19 44890801 [T/C] NM_152354 ZNF285 EXON Missense_R536G exm1478206 19 44890824 [T/C] NM_152354 ZNF285 EXON Missense_N528S exm1478207 19 44890825 [T/G] NM_152354 ZNF285 EXON Missense_N528H exm2229487 19 44890875 [T/G] NM_152354 ZNF285 EXON Missense_P511Q exm1478245 19 44891364 [T/G] NM_152354 ZNF285 EXON Missense_E348A exm1478259 19 44891748 [T/C] NM_152354 ZNF285 EXON Missense_E220G exm1478266 19 44891838 [T/C] NM_152354 ZNF285 EXON Missense_C190Y exm1478277 19 44892034 [G/C] NM_152354 ZNF285 EXON Missense_V125L exm1478283 19 44892106 [C/G] NM_152354 ZNF285 EXON Missense_H101D exm1478289 19 44892168 [T/C] NM_152354 ZNF285 EXON Missense_R80K exm2229490 19 44896504 [T/C] NM_152354 ZNF285 EXON Missense_R48G exm1478312 19 44932521 [T/C] NM_014518 ZNF229 EXON Missense_R812Q exm1478327 19 44932747 [T/C] NM_014518 ZNF229 EXON Missense_E737K exm1478340 19 44932929 [T/C] NM_014518 ZNF229 EXON Missense_R676Q exm1478342 19 44932972 [T/C] NM_014518 ZNF229 EXON Missense_G662R exm1478344 19 44932979 [T/G] NM_014518 ZNF229 EXON Missense_Q659H exm1478359 19 44933269 [A/G] NM_014518 ZNF229 EXON Nonsense_Q563X exm1478364 19 44933355 [A/G] NM_014518 ZNF229 EXON Missense_M534T exm1478366 19 44933419 [G/C] NM_014518 ZNF229 EXON Missense_G513R exm1478371 19 44933451 [A/G] NM_014518 ZNF229 EXON Missense_S502L exm2275084 19 44933467 [T/C] NM_014518 ZNF229 EXON Missense_G497S exm1478375 19 44933513 [A/C] NM_014518 ZNF229 EXON Missense_K481N exm1478383 19 44933705 [C/G] NM_014518 ZNF229 EXON Missense_S417R exm1478384 19 44933706 [T/C] NM_014518 ZNF229 EXON Missense_S417N exm1478385 19 44933708 [T/G] NM_014518 ZNF229 EXON Nonsense_Y416X exm1478394 19 44933895 [T/C] NM_014518 ZNF229 EXON Missense_C354Y exm1478395 19 44933901 [A/T] NM_014518 ZNF229 EXON Missense_D352V exm1478397 19 44933947 [A/G] NM_014518 ZNF229 EXON Missense_R337C exm1478413 19 44934187 [A/G] NM_014518 ZNF229 EXON Missense_R257C exm1478420 19 44934304 [T/C] NM_014518 ZNF229 EXON Missense_D218N exm1478421 19 44934324 [A/G] NM_014518 ZNF229 EXON Missense_T211I exm2253889 19 44934338 [A/G] NM_014518 ZNF229 EXON Synonymous_L206L exm1478434 19 44934535 [C/G] NM_014518 ZNF229 EXON Missense_Q141E exm1478436 19 44934565 [A/C] NM_014518 ZNF229 EXON Missense_F131V exm1478439 19 44934604 [A/C] NM_014518 ZNF229 EXON Missense_G118W exm1478445 19 44934696 [A/G] NM_014518 ZNF229 EXON Missense_T87M exm1478448 19 44946749 [A/G] NM_014518 ZNF229 EXON Nonsense_Q31X exm1941625 19 44947003 [T/C] NM_014518 ZNF229 EXON Missense_K10R exm1478454 19 44947030 [A/G] NM_014518 ZNF229 EXON Missense_M1T exm-rs644148 19 44970935 [T/G] exm2272794 19 44979443 [T/C] exm1478462 19 44980752 [A/G] NM_013256 ZNF180 EXON Missense_I649T exm1478483 19 44981236 [T/C] NM_013256 ZNF180 EXON Missense_T488A exm1478489 19 44981340 [A/G] NM_013256 ZNF180 EXON Missense_I453T exm1478510 19 44981800 [T/C] NM_013256 ZNF180 EXON Missense_T300A exm1478511 19 44981832 [T/C] NM_013256 ZNF180 EXON Missense_H289R exm1941668 19 44981846 [A/C] NM_013256 ZNF180 EXON Missense_H284Q exm1478513 19 44981848 [A/G] NM_013256 ZNF180 EXON Missense_H284Y exm1478514 19 44981862 [A/G] NM_013256 ZNF180 EXON Missense_I279T exm1478516 19 44981866 [A/G] NM_013256 ZNF180 EXON Missense_R278C exm1478517 19 44981878 [T/C] NM_013256 ZNF180 EXON Missense_G274R exm1478518 19 44981883 [G/C] NM_013256 ZNF180 EXON Missense_C272S exm1478523 19 44982085 [C/G] NM_013256 ZNF180 EXON Missense_L205V exm1478524 19 44982121 [C/G] NM_013256 ZNF180 EXON Missense_D193H exm1478527 19 44982218 [T/G] NM_013256 ZNF180 EXON Missense_D160E exm1478528 19 44982283 [A/T] NM_013256 ZNF180 EXON Missense_I139L exm1478535 19 44983567 [C/G] NM_013256 ZNF180 EXON Missense_W89C exm1478537 19 44983604 [A/C] NM_013256 ZNF180 EXON Missense_V77G exm2229494 19 44988639 [A/G] NM_013256 ZNF180 EXON Missense_F47S exm1478541 19 45001346 [A/G] NM_013256 ZNF180 EXON Missense_A41V exm1478556 19 45015106 [A/G] NM_001102600,NM_001102599,NM_001102598,NM_001102597 CEACAM20,CEACAM20,CEACAM20,CEACAM20 EXON Synonymous_N561N,Synonymous_N480N,Synonymous_N468N,Synonymous_N573N exm1478559 19 45015192 [A/G] NM_001102600,NM_001102599,NM_001102598,NM_001102597 CEACAM20,CEACAM20,CEACAM20,CEACAM20 EXON Missense_R533C,Missense_R452C,Missense_R440C,Missense_R545C exm-IND19-49707042 19 45015203 [D/I] NM_001102600,NM_001102599,NM_001102598,NM_001102597 CEACAM20,CEACAM20,CEACAM20,CEACAM20 EXON exm1478560 19 45015212 [A/G] NM_001102600,NM_001102599,NM_001102598,NM_001102597 CEACAM20,CEACAM20,CEACAM20,CEACAM20 EXON Missense_T526M,Missense_T445M,Missense_T433M,Missense_T538M exm1478562 19 45016102 [G/C] NM_001102600,NM_001102599,NM_001102598,NM_001102597 CEACAM20,CEACAM20,CEACAM20,CEACAM20 EXON Missense_Q516H,Missense_Q423H,Missense_Q423H,Missense_Q516H exm1478565 19 45016116 [A/G] NM_001102600,NM_001102599,NM_001102598,NM_001102597 CEACAM20,CEACAM20,CEACAM20,CEACAM20 EXON Missense_C512R,Missense_C419R,Missense_C419R,Missense_C512R exm1478567 19 45016926 [T/C] NM_001102600,NM_001102599,NM_001102598,NM_001102597 CEACAM20,CEACAM20,CEACAM20,CEACAM20 EXON Missense_E505K,Missense_E412K,Missense_E412K,Missense_E505K exm1478568 19 45016927 [A/G] NM_001102600,NM_001102599,NM_001102598,NM_001102597 CEACAM20,CEACAM20,CEACAM20,CEACAM20 EXON Synonymous_S504S,Synonymous_S411S,Synonymous_S411S,Synonymous_S504S exm1478570 19 45016950 [T/C] NM_001102600,NM_001102599,NM_001102598,NM_001102597 CEACAM20,CEACAM20,CEACAM20,CEACAM20 EXON Missense_E497K,Missense_E404K,Missense_E404K,Missense_E497K exm1478571 19 45016972 [A/G] NM_001102600,NM_001102599,NM_001102598,NM_001102597 CEACAM20,CEACAM20,CEACAM20,CEACAM20 EXON Synonymous_T489T,Synonymous_T396T,Synonymous_T396T,Synonymous_T489T exm1478574 19 45016995 [A/G] NM_001102600,NM_001102599,NM_001102598,NM_001102597 CEACAM20,CEACAM20,CEACAM20,CEACAM20 EXON Missense_T482I,Missense_T389I,Missense_T389I,Missense_T482I exm1478578 19 45017249 [T/C] NM_001102600,NM_001102599,NM_001102598,NM_001102597 CEACAM20,CEACAM20,CEACAM20,CEACAM20 EXON Missense_Y470C,Missense_Y377C,Missense_Y377C,Missense_Y470C exm1478580 19 45017301 [T/C] NM_001102600,NM_001102599,NM_001102598,NM_001102597 CEACAM20,CEACAM20,CEACAM20,CEACAM20 EXON Missense_I453V,Missense_I360V,Missense_I360V,Missense_I453V exm1478592 19 45021210 [A/G] NM_001102600,NM_001102599,NM_001102598,NM_001102597 CEACAM20,CEACAM20,CEACAM20,CEACAM20 EXON Missense_S369F,Silent,Silent,Missense_S369F exm1478595 19 45021252 [A/G] NM_001102600,NM_001102599,NM_001102598,NM_001102597 CEACAM20,CEACAM20,CEACAM20,CEACAM20 EXON Missense_S355L,Silent,Silent,Missense_S355L exm1478598 19 45024535 [T/C] NM_001102600,NM_001102599,NM_001102598,NM_001102597 CEACAM20,CEACAM20,CEACAM20,CEACAM20 EXON Missense_S335G,Missense_S335G,Missense_S335G,Missense_S335G exm1478599 19 45024537 [T/C] NM_001102600,NM_001102599,NM_001102598,NM_001102597 CEACAM20,CEACAM20,CEACAM20,CEACAM20 EXON Missense_R334Q,Missense_R334Q,Missense_R334Q,Missense_R334Q exm1478603 19 45024615 [A/G] NM_001102600,NM_001102599,NM_001102598,NM_001102597 CEACAM20,CEACAM20,CEACAM20,CEACAM20 EXON Missense_T308I,Missense_T308I,Missense_T308I,Missense_T308I exm1478607 19 45024706 [T/C] NM_001102600,NM_001102599,NM_001102598,NM_001102597 CEACAM20,CEACAM20,CEACAM20,CEACAM20 EXON Missense_T278A,Missense_T278A,Missense_T278A,Missense_T278A exm2253891 19 45024764 [A/G] NM_001102600,NM_001102599,NM_001102598,NM_001102597 CEACAM20,CEACAM20,CEACAM20,CEACAM20 EXON Synonymous_V258V,Synonymous_V258V,Synonymous_V258V,Synonymous_V258V exm1478617 19 45026822 [T/C] NM_001102600,NM_001102599,NM_001102598,NM_001102597 CEACAM20,CEACAM20,CEACAM20,CEACAM20 EXON Missense_A198T,Missense_A198T,Missense_A198T,Missense_A198T exm1478625 19 45028112 [T/C] NM_001102600,NM_001102599,NM_001102598,NM_001102597 CEACAM20,CEACAM20,CEACAM20,CEACAM20 EXON Missense_I127V,Missense_I127V,Missense_I127V,Missense_I127V exm1478626 19 45028153 [T/C] NM_001102600,NM_001102599,NM_001102598,NM_001102597 CEACAM20,CEACAM20,CEACAM20,CEACAM20 EXON Missense_R113H,Missense_R113H,Missense_R113H,Missense_R113H exm1478627 19 45028169 [T/C] NM_001102600,NM_001102599,NM_001102598,NM_001102597 CEACAM20,CEACAM20,CEACAM20,CEACAM20 EXON Missense_V108I,Missense_V108I,Missense_V108I,Missense_V108I exm1478630 19 45028231 [A/G] NM_001102600,NM_001102599,NM_001102598,NM_001102597 CEACAM20,CEACAM20,CEACAM20,CEACAM20 EXON Missense_T87I,Missense_T87I,Missense_T87I,Missense_T87I exm2277170 19 45028250 [T/C] NM_001102600,NM_001102599,NM_001102598,NM_001102597 CEACAM20,CEACAM20,CEACAM20,CEACAM20 EXON Missense_E81K,Missense_E81K,Missense_E81K,Missense_E81K exm1478635 19 45029164 [T/C] NM_001102600,NM_001102599,NM_001102598,NM_001102597 CEACAM20,CEACAM20,CEACAM20,CEACAM20 EXON Missense_R56G,Missense_R56G,Missense_R56G,Missense_R56G exm1478637 19 45029208 [A/G] NM_001102600,NM_001102599,NM_001102598,NM_001102597 CEACAM20,CEACAM20,CEACAM20,CEACAM20 EXON Missense_A41V,Missense_A41V,Missense_A41V,Missense_A41V exm2272833 19 45086346 [T/C] exm2268198 19 45107156 [A/G] exm1941808 19 45150522 [A/G] NM_001135770,NM_001135769,NM_001135768,NM_006505 PVR,PVR,PVR,PVR EXON Missense_Q36R,Missense_Q36R,Missense_Q36R,Missense_Q36R exm1478665 19 45150614 [A/G] NM_001135770,NM_001135769,NM_001135768,NM_006505 PVR,PVR,PVR,PVR EXON Missense_A67T,Missense_A67T,Missense_A67T,Missense_A67T exm1478678 19 45153113 [G/C] NM_001135770,NM_001135769,NM_001135768,NM_006505 PVR,PVR,PVR,PVR EXON Missense_V154L,Missense_V154L,Missense_V154L,Missense_V154L exm1478685 19 45153230 [C/G] NM_001135770,NM_001135769,NM_001135768,NM_006505 PVR,PVR,PVR,PVR EXON Missense_P193A,Missense_P193A,Missense_P193A,Missense_P193A exm1478688 19 45153329 [A/G] NM_001135770,NM_001135769,NM_001135768,NM_006505 PVR,PVR,PVR,PVR EXON Missense_E226K,Missense_E226K,Missense_E226K,Missense_E226K exm1478697 19 45157256 [A/G] NM_001135770,NM_001135769,NM_001135768,NM_006505 PVR,PVR,PVR,PVR EXON Missense_N271S,Missense_N271S,Missense_N271S,Missense_N271S exm1478698 19 45157274 [A/G] NM_001135770,NM_001135769,NM_001135768,NM_006505 PVR,PVR,PVR,PVR EXON Missense_Y277C,Missense_Y277C,Missense_Y277C,Missense_Y277C exm1478699 19 45161070 [A/G] NM_001135770,NM_001135769,NM_001135768,NM_006505 PVR,PVR,PVR,PVR EXON Missense_A295T,Missense_A295T,Missense_A295T,Missense_A295T exm1478704 19 45161110 [T/C] NM_001135770,NM_001135769,NM_001135768,NM_006505 PVR,PVR,PVR,PVR EXON Missense_T308I,Missense_T308I,Missense_T308I,Missense_T308I exm1478705 19 45161116 [T/C] NM_001135770,NM_001135769,NM_001135768,NM_006505 PVR,PVR,PVR,PVR EXON Missense_L310S,Missense_L310S,Missense_L310S,Missense_L310S exm1478707 19 45161134 [A/G] NM_001135770,NM_001135769,NM_001135768,NM_006505 PVR,PVR,PVR,PVR EXON Missense_N316S,Missense_N316S,Missense_N316S,Missense_N316S exm1478712 19 45162038 [A/G] NM_001135770,NM_001135769,NM_001135768,NM_006505 PVR,PVR,PVR,PVR EXON Missense_I340M,Silent,Silent,Missense_I340M exm1478714 19 45162048 [A/G] NM_001135770,NM_001135769,NM_001135768,NM_006505 PVR,PVR,PVR,PVR EXON Missense_A344T,Silent,Silent,Missense_A344T exm1478715 19 45162059 [A/C] NM_001135770,NM_001135769,NM_001135768,NM_006505 PVR,PVR,PVR,PVR EXON Missense_F347L,Silent,Silent,Missense_F347L exm1478718 19 45162124 [A/G] NM_001135770,NM_001135769,NM_001135768,NM_006505 PVR,PVR,PVR,PVR EXON Missense_K369R,Silent,Silent,Missense_K369R exm1478722 19 45162189 [A/C] NM_001135770,NM_001135769,NM_001135768,NM_006505 PVR,PVR,PVR,PVR EXON Missense_R391S,Silent,Silent,Silent exm1478731 19 45165070 [A/G] NM_001135769,NM_001135768,NM_006505 PVR,PVR,PVR EXON Missense_T363A,Missense_T371A,Missense_T416A exm1478740 19 45175950 [C/G] NM_001127893,NM_020219 CEACAM19,CEACAM19 EXON Missense_N46K,Missense_N46K exm1478745 19 45176029 [A/G] NM_001127893,NM_020219 CEACAM19,CEACAM19 EXON Missense_G73R,Missense_G73R exm1478748 19 45176068 [T/C] NM_001127893,NM_020219 CEACAM19,CEACAM19 EXON Missense_R86W,Missense_R86W exm1478749 19 45176069 [A/G] NM_001127893,NM_020219 CEACAM19,CEACAM19 EXON Missense_R86Q,Missense_R86Q exm1478756 19 45179567 [T/C] NM_001127893,NM_020219 CEACAM19,CEACAM19 EXON Missense_T150I,Missense_T150I exm1478759 19 45179645 [A/G] NM_001127893,NM_020219 CEACAM19,CEACAM19 EXON Missense_C176Y,Missense_C176Y exm1478761 19 45179666 [T/C] NM_001127893,NM_020219 CEACAM19,CEACAM19 EXON Missense_T183I,Missense_T183I exm1478767 19 45183597 [T/C] NM_001127893,NM_020219 CEACAM19,CEACAM19 EXON Missense_H233Y,Missense_H233Y exm1478768 19 45183603 [T/G] NM_001127893,NM_020219 CEACAM19,CEACAM19 EXON Missense_A235S,Missense_A235S exm1478772 19 45184565 [C/G] NM_001127893,NM_020219 CEACAM19,CEACAM19 EXON Missense_R258T,Missense_R258T exm1478773 19 45184584 [G/C] NM_001127893,NM_020219 CEACAM19,CEACAM19 EXON Synonymous_R264R,Synonymous_R264R exm1478796 19 45206624 [T/C] NM_001039213 CEACAM16 EXON Missense_F15L exm1478806 19 45206715 [T/C] NM_001039213 CEACAM16 EXON Missense_S45L exm1478809 19 45206778 [T/C] NM_001039213 CEACAM16 EXON Missense_A66V exm1941867 19 45206789 [A/G] NM_001039213 CEACAM16 EXON Missense_V70M exm1478818 19 45206933 [A/G] NM_001039213 CEACAM16 EXON Missense_E118K exm1478836 19 45208979 [A/G] NM_001039213 CEACAM16 EXON Missense_E261K exm1478841 19 45209067 [T/C] NM_001039213 CEACAM16 EXON Missense_T290M exm1478849 19 45211148 [T/C] NM_001039213 CEACAM16 EXON Missense_T319M exm1478851 19 45211178 [T/C] NM_001039213 CEACAM16 EXON Missense_T329M exm1478863 19 45211441 [C/G] NM_001039213 CEACAM16 EXON Missense_V417L exm2229520 19 45254566 [A/G] NM_005178 BCL3 EXON Missense_M113I exm1478886 19 45259566 [A/G] NM_005178 BCL3 EXON Missense_R163Q exm1478890 19 45260350 [T/C] NM_005178 BCL3 EXON Missense_M199T exm1478915 19 45262090 [A/G] NM_005178 BCL3 EXON Missense_S390N exm1478919 19 45262696 [A/G] NM_005178 BCL3 EXON Missense_A397T exm1478921 19 45262754 [T/C] NM_005178 BCL3 EXON Missense_M416T exm1478923 19 45262795 [A/G] NM_005178 BCL3 EXON Missense_A430T exm1478939 19 45281375 [T/C] NM_001130852,NM_012116 CBLC,CBLC EXON Missense_R63W,Missense_R63W exm1478951 19 45284266 [A/C] NM_001130852,NM_012116 CBLC,CBLC EXON Missense_K153T,Missense_K153T exm1478955 19 45284495 [T/C] NM_001130852,NM_012116 CBLC,CBLC EXON Missense_L178F,Missense_L178F exm1478956 19 45284505 [T/C] NM_001130852,NM_012116 CBLC,CBLC EXON Missense_T181I,Missense_T181I exm1478981 19 45295664 [A/G] NM_001130852,NM_012116 CBLC,CBLC EXON Missense_M298V,Missense_M344V exm1478992 19 45296767 [A/G] NM_001130852,NM_012116 CBLC,CBLC EXON Missense_E346K,Missense_E392K exm1478994 19 45296806 [T/C] NM_001130852,NM_012116 CBLC,CBLC EXON Missense_H359Y,Missense_H405Y exm1479001 19 45297479 [T/C] NM_001130852,NM_012116 CBLC,CBLC EXON Missense_P389S,Missense_P435S exm1941987 19 45314515 [T/C] NM_001013257,NM_005581 BCAM,BCAM EXON Missense_P39L,Missense_P39L exm1479016 19 45315445 [A/G] NM_001013257,NM_005581 BCAM,BCAM EXON Missense_R77H,Missense_R77H exm1479021 19 45315495 [A/G] NM_001013257,NM_005581 BCAM,BCAM EXON Missense_D94N,Missense_D94N exm1479029 19 45315573 [A/G] NM_001013257,NM_005581 BCAM,BCAM EXON Missense_E120K,Missense_E120K exm1479044 19 45316553 [T/C] NM_001013257,NM_005581 BCAM,BCAM EXON Missense_T184M,Missense_T184M exm1479047 19 45316588 [A/G] NM_001013257,NM_005581 BCAM,BCAM EXON Missense_V196I,Missense_V196I exm1479053 19 45316772 [T/C] NM_001013257,NM_005581 BCAM,BCAM EXON Missense_R227C,Missense_R227C exm1479056 19 45316790 [T/G] NM_001013257,NM_005581 BCAM,BCAM EXON Missense_A233S,Missense_A233S exm1479060 19 45316820 [A/C] NM_001013257,NM_005581 BCAM,BCAM EXON Missense_L243M,Missense_L243M exm1942009 19 45316838 [A/G] NM_001013257,NM_005581 BCAM,BCAM EXON Missense_G249S,Missense_G249S exm1479064 19 45317415 [T/C] NM_001013257,NM_005581 BCAM,BCAM EXON Missense_T264M,Missense_T264M exm1479068 19 45317448 [T/C] NM_001013257,NM_005581 BCAM,BCAM EXON Missense_S275F,Missense_S275F exm1479069 19 45317469 [A/G] NM_001013257,NM_005581 BCAM,BCAM EXON Missense_R282H,Missense_R282H exm1479072 19 45317499 [A/G] NM_001013257,NM_005581 BCAM,BCAM EXON Missense_R292Q,Missense_R292Q exm1479095 19 45321841 [A/G] NM_001013257,NM_005581 BCAM,BCAM EXON Missense_V381I,Missense_V381I exm1479097 19 45321856 [G/C] NM_001013257,NM_005581 BCAM,BCAM EXON Missense_V386L,Missense_V386L exm1479099 19 45321884 [A/G] NM_001013257,NM_005581 BCAM,BCAM EXON Missense_R395H,Missense_R395H exm1479106 19 45322070 [A/G] NM_001013257,NM_005581 BCAM,BCAM EXON Missense_V423I,Missense_V423I exm1479108 19 45322098 [T/C] NM_001013257,NM_005581 BCAM,BCAM EXON Missense_P432L,Missense_P432L exm1479109 19 45322109 [T/C] NM_001013257,NM_005581 BCAM,BCAM EXON Missense_R436C,Missense_R436C exm1479111 19 45322316 [T/C] NM_001013257,NM_005581 BCAM,BCAM EXON Missense_S447L,Missense_S447L exm1479112 19 45322327 [A/C] NM_001013257,NM_005581 BCAM,BCAM EXON Missense_K451Q,Missense_K451Q exm1479120 19 45322432 [A/G] NM_001013257,NM_005581 BCAM,BCAM EXON Missense_S486G,Missense_S486G exm1479122 19 45322624 [T/C] NM_001013257,NM_005581 BCAM,BCAM EXON Missense_R499W,Missense_R499W exm2276654 19 45322681 [A/G] NM_001013257,NM_005581 BCAM,BCAM EXON Missense_D518N,Missense_D518N exm1479127 19 45322741 [A/G] NM_001013257,NM_005581 BCAM,BCAM EXON Missense_G538S,Missense_G538S exm1479128 19 45322744 [A/G] NM_001013257,NM_005581 BCAM,BCAM EXON Missense_T539A,Missense_T539A exm1479129 19 45322746 [T/C] NM_001013257,NM_005581 BCAM,BCAM EXON Synonymous_T539T,Synonymous_T539T exm1479130 19 45322840 [A/G] NM_001013257,NM_005581 BCAM,BCAM EXON Synonymous_V540V,Synonymous_V540V exm1479133 19 45322904 [T/C] NM_001013257,NM_005581 BCAM,BCAM EXON Missense_L562F,Missense_L562F exm1479135 19 45322913 [A/G] NM_001013257,NM_005581 BCAM,BCAM EXON Missense_V565I,Missense_V565I exm2229526 19 45322959 [A/G] NM_001013257,NM_005581 BCAM,BCAM EXON Missense_R580H,Missense_R580H exm1479141 19 45322962 [A/T] NM_001013257,NM_005581 BCAM,BCAM EXON Missense_Q581L,Missense_Q581L exm1479147 19 45323964 [T/C] NM_001013257,NM_005581 BCAM,BCAM EXON Silent,Missense_P589L exm2253892 19 45323983 [A/G] NM_001013257,NM_005581 BCAM,BCAM EXON Silent,Synonymous_L595L exm1942038 19 45323987 [T/C] NM_001013257,NM_005581 BCAM,BCAM EXON Silent,Missense_H597Y exm2229527 19 45368740 [A/G] NM_001042724,NM_002856 PVRL2,PVRL2 EXON Missense_E101K,Missense_E101K exm1479183 19 45375164 [T/C] NM_001042724,NM_002856 PVRL2,PVRL2 EXON Missense_T178M,Missense_T178M exm1479187 19 45375295 [T/C] NM_001042724,NM_002856 PVRL2,PVRL2 EXON Missense_R222C,Missense_R222C exm1479196 19 45377254 [A/G] NM_001042724,NM_002856 PVRL2,PVRL2 EXON Missense_R286H,Missense_R286H exm1479197 19 45377290 [T/C] NM_001042724,NM_002856 PVRL2,PVRL2 EXON Missense_T298M,Missense_T298M exm1479205 19 45377654 [A/G] NM_001042724,NM_002856 PVRL2,PVRL2 EXON Missense_S321G,Missense_S321G exm1479211 19 45381530 [A/G] NM_001042724,NM_002856 PVRL2,PVRL2 EXON Silent,Missense_V365M exm1942063 19 45381836 [A/C] NM_001042724,NM_002856 PVRL2,PVRL2 EXON Silent,Missense_L467M exm1479224 19 45381860 [T/C] NM_001042724,NM_002856 PVRL2,PVRL2 EXON Silent,Missense_R475W exm-rs6859 19 45382034 [A/G] NM_001042724,NM_002856 PVRL2,PVRL2 EXON Silent,Silent exm1479229 19 45385488 [A/G] NM_001042724 PVRL2 EXON Missense_A355T exm1479239 19 45389198 [G/C] NM_001042724 PVRL2 EXON Missense_E401Q exm-rs157580 19 45395266 [A/G] NM_001128916,NM_001128917,NM_006114 TOMM40,TOMM40,TOMM40 Silent,Silent,Silent exm-rs2075650 19 45395619 [A/G] NM_001128916,NM_001128917,NM_006114 TOMM40,TOMM40,TOMM40 Silent,Silent,Silent exm1479300 19 45404058 [T/C] NM_001128916,NM_001128917,NM_006114 TOMM40,TOMM40,TOMM40 EXON Missense_R239W,Missense_R239W,Missense_R239W exm-rs769449 19 45410002 [A/G] NM_000041 APOE Silent exm1479346 19 45411110 [T/C] NM_000041 APOE EXON Missense_L46P exm1479364 19 45412040 [T/C] NM_000041 APOE EXON Missense_R163C exm1479365 19 45412056 [A/G] NM_000041 APOE EXON Missense_R168H exm1479366 19 45412079 [T/C] NM_000041 APOE EXON Missense_R176C exm1479367 19 45412097 [T/G] NM_000041 APOE EXON Missense_A182S exm-rs439401 19 45414451 [T/C] exm-rs445925 19 45415640 [A/G] exm1479393 19 45419555 [A/G] NM_001645 APOC1 EXON Missense_K56R exm1479395 19 45422446 [T/A] NM_001645 APOC1 EXON Missense_T71S exm-rs4420638 19 45422946 [A/G] exm1479400 19 45445541 [T/C] NR_037932,NM_001646 APOC4-APOC2,APOC4 EXON Silent,Missense_L3F exm1479402 19 45445586 [A/G] NR_037932,NM_001646 APOC4-APOC2,APOC4 EXON Silent,Missense_V18M exm1479408 19 45448036 [T/C] NR_037932,NM_001646 APOC4-APOC2,APOC4 EXON Silent,Missense_L36P exm1479411 19 45448070 [A/G] NR_037932,NM_001646 APOC4-APOC2,APOC4 EXON Silent,Nonsense_W47X exm1479431 19 45448465 [T/G] NR_037932,NM_001646 APOC4-APOC2,APOC4 EXON Silent,Missense_L96R exm1479433 19 45448507 [A/C] NR_037932,NM_001646 APOC4-APOC2,APOC4 EXON Silent,Missense_K110T exm1479441 19 45451743 [T/C] NR_037932,NM_000483 APOC4-APOC2,APOC2 EXON Silent,Missense_T3I exm1479442 19 45451745 [C/G] NR_037932,NM_000483 APOC4-APOC2,APOC2 EXON Silent,Missense_R4G exm1479446 19 45451769 [A/G] NR_037932,NM_000483 APOC4-APOC2,APOC2 EXON Silent,Missense_V12I exm1479452 19 45451987 [A/G] NR_037932,NM_000483 APOC4-APOC2,APOC2 EXON Silent,Missense_D29N exm1479455 19 45452080 [A/G] NR_037932,NM_000483 APOC4-APOC2,APOC2 EXON Silent,Missense_E60K exm1479457 19 45452429 [A/C] NR_037932,NM_000483 APOC4-APOC2,APOC2 EXON Silent,Missense_K77Q exm1479461 19 45465241 [A/G] NR_040007,NR_040006,NM_001294 CLPTM1,CLPTM1,CLPTM1 EXON Silent,Silent,Missense_G32R exm2253893 19 45477797 [T/C] NR_040007,NR_040006,NM_001294 CLPTM1,CLPTM1,CLPTM1 EXON Silent,Silent,Synonymous_T137T exm1479484 19 45480687 [T/C] NR_040007,NR_040006,NM_001294 CLPTM1,CLPTM1,CLPTM1 EXON Silent,Silent,Missense_R186C exm1479485 19 45480708 [A/G] NR_040007,NR_040006,NM_001294 CLPTM1,CLPTM1,CLPTM1 EXON Silent,Silent,Missense_M193V exm1479494 19 45489832 [A/G] NR_040007,NR_040006,NM_001294 CLPTM1,CLPTM1,CLPTM1 EXON Silent,Silent,Synonymous_Q264Q exm1479499 19 45490529 [A/G] NR_040007,NR_040006,NM_001294 CLPTM1,CLPTM1,CLPTM1 EXON Silent,Silent,Missense_E296K exm1479532 19 45494505 [T/C] NR_040007,NR_040006,NM_001294 CLPTM1,CLPTM1,CLPTM1 EXON Silent,Silent,Missense_R477W exm1479533 19 45494509 [A/G] NR_040007,NR_040006,NM_001294 CLPTM1,CLPTM1,CLPTM1 EXON Silent,Silent,Missense_Y478C exm1479537 19 45494550 [A/G] NR_040007,NR_040006,NM_001294 CLPTM1,CLPTM1,CLPTM1 EXON Silent,Silent,Missense_V492I exm2253894 19 45495579 [T/C] NR_040007,NR_040006,NM_001294 CLPTM1,CLPTM1,CLPTM1 EXON Silent,Silent,Synonymous_A548A exm1479559 19 45495982 [A/G] NR_040007,NR_040006,NM_001294 CLPTM1,CLPTM1,CLPTM1 EXON Silent,Silent,Missense_E613K exm1942230 19 45506208 [A/G] NM_006509 RELB EXON Synonymous_G36G exm1479606 19 45528677 [T/C] NM_006509 RELB EXON Missense_T250M exm1479618 19 45532195 [T/C] NM_006509 RELB EXON Missense_A311V exm1479640 19 45537722 [T/C] NM_006509 RELB EXON Missense_S429L exm1479646 19 45537779 [T/C] NM_006509 RELB EXON Missense_T448M exm1479654 19 45540766 [T/C] NM_006509 RELB EXON Missense_T485M exm1479658 19 45540789 [T/C] NM_006509 RELB EXON Missense_R493W exm1479659 19 45540799 [A/G] NM_006509 RELB EXON Missense_H496R exm1942275 19 45540826 [T/C] NM_006509 RELB EXON Missense_P505L exm1479680 19 45556134 [T/C] NM_007056 CLASRP EXON Missense_P95S exm1479683 19 45556432 [A/G] NM_007056 CLASRP EXON Missense_G126S exm1479687 19 45561012 [A/G] NM_007056 CLASRP EXON Missense_A157T exm1479692 19 45561063 [A/G] NM_007056 CLASRP EXON Missense_K174E exm1479699 19 45562527 [T/C] NM_007056 CLASRP EXON Synonymous_D205D exm1942312 19 45562606 [A/G] NM_007056 CLASRP EXON Missense_D232N exm1479721 19 45567668 [A/C] NM_007056 CLASRP EXON Missense_R397S exm1479742 19 45570762 [A/G] NM_007056 CLASRP EXON Missense_R526H exm1479744 19 45570821 [A/G] NM_007056 CLASRP EXON Missense_A546T exm1479783 19 45574080 [T/C] NM_007056 CLASRP EXON Nonsense_R668X exm1479793 19 45574867 [T/C] NM_145288 ZNF296 EXON Missense_E474K exm1479797 19 45574875 [A/G] NM_145288 ZNF296 EXON Missense_A471V exm1479799 19 45574894 [A/G] NM_145288 ZNF296 EXON Missense_R465W exm1479811 19 45575251 [T/C] NM_145288 ZNF296 EXON Missense_G346S exm1479820 19 45575433 [A/G] NM_145288 ZNF296 EXON Missense_P285L exm1942344 19 45575442 [T/C] NM_145288 ZNF296 EXON Missense_R282Q exm1479849 19 45575806 [A/G] NM_145288 ZNF296 EXON Missense_R161C exm1479855 19 45579026 [T/G] NM_145288 ZNF296 EXON Missense_D131E exm1479864 19 45579459 [A/G] NM_145288 ZNF296 EXON Missense_S58L exm1479869 19 45579496 [A/G] NM_145288 ZNF296 EXON Missense_P46S exm1479876 19 45579549 [T/C] NM_145288 ZNF296 EXON Missense_Q28R exm1479878 19 45579592 [G/C] NM_145288 ZNF296 EXON Missense_E14Q exm1942365 19 45593478 [T/C] NM_001007270,NM_001007269,NM_024707 GEMIN7,GEMIN7,GEMIN7 EXON Missense_P36S,Missense_P36S,Missense_P36S exm1479883 19 45593505 [T/C] NM_001007270,NM_001007269,NM_024707 GEMIN7,GEMIN7,GEMIN7 EXON Missense_P45S,Missense_P45S,Missense_P45S exm1479893 19 45593749 [T/C] NM_001007270,NM_001007269,NM_024707 GEMIN7,GEMIN7,GEMIN7 EXON Missense_S126L,Missense_S126L,Missense_S126L exm1479896 19 45593759 [A/C] NM_001007270,NM_001007269,NM_024707 GEMIN7,GEMIN7,GEMIN7 EXON Missense_F129L,Missense_F129L,Missense_F129L exm1479900 19 45655303 [C/G] NM_198478 NKPD1 EXON Missense_Q798E exm1479909 19 45655486 [C/G] NM_198478 NKPD1 EXON Missense_Q737E exm1479927 19 45656069 [T/G] NM_198478 NKPD1 EXON Missense_H542Q exm1479929 19 45656147 [T/G] NM_198478 NKPD1 EXON Nonsense_Y516X exm1479946 19 45659154 [T/C] NM_198478 NKPD1 EXON Missense_V184I exm1479947 19 45659155 [G/C] NM_198478 NKPD1 EXON Missense_D183E exm1479956 19 45662295 [A/G] NM_198478 NKPD1 EXON Missense_S52F exm1479965 19 45666466 [A/G] NM_001270891,NM_024108,NM_001270893,NM_001270892 TRAPPC6A,TRAPPC6A,TRAPPC6A,TRAPPC6A EXON Missense_V155A,Missense_V169A,Silent,Silent exm2229547 19 45667249 [T/C] NM_001270891,NM_024108,NM_001270893,NM_001270892 TRAPPC6A,TRAPPC6A,TRAPPC6A,TRAPPC6A EXON Missense_G125S,Missense_G139S,Missense_R102Q,Missense_R116Q exm1942384 19 45667501 [A/G] NM_001270891,NM_024108,NM_001270893,NM_001270892 TRAPPC6A,TRAPPC6A,TRAPPC6A,TRAPPC6A EXON Missense_T92I,Missense_T106I,Synonymous_D69D,Synonymous_D83D exm1942389 19 45668158 [T/C] NM_001270891,NM_024108,NM_001270893,NM_001270892 TRAPPC6A,TRAPPC6A,TRAPPC6A,TRAPPC6A EXON Missense_V75M,Missense_V89M,Missense_G52D,Missense_G66D exm1479993 19 45668214 [A/G] NM_001270891,NM_024108,NM_001270893,NM_001270892 TRAPPC6A,TRAPPC6A,TRAPPC6A,TRAPPC6A EXON Missense_T56M,Missense_T70M,Synonymous_D33D,Synonymous_D47D exm1480000 19 45668424 [T/C] NM_001270891,NM_024108,NM_001270893,NM_001270892 TRAPPC6A,TRAPPC6A,TRAPPC6A,TRAPPC6A EXON Missense_E38G,Missense_E52G,Silent,Silent exm1480002 19 45668446 [T/C] NM_001270891,NM_024108,NM_001270893,NM_001270892 TRAPPC6A,TRAPPC6A,TRAPPC6A,TRAPPC6A EXON Missense_K31E,Missense_K45E,Silent,Silent exm1480006 19 45681398 [T/G] NM_001270891,NM_024108,NM_001270893,NM_001270892 TRAPPC6A,TRAPPC6A,TRAPPC6A,TRAPPC6A EXON Missense_P27T,Missense_P27T,Missense_P27T,Missense_P27T exm1480010 19 45682571 [A/G] NM_212550 BLOC1S3 EXON Missense_R6H exm1480014 19 45682646 [T/C] NM_212550 BLOC1S3 EXON Missense_A31V exm1480027 19 45682876 [G/C] NM_212550 BLOC1S3 EXON Missense_L108V exm1480032 19 45683044 [T/C] NM_212550 BLOC1S3 EXON Missense_R164C exm1480033 19 45683045 [A/G] NM_212550 BLOC1S3 EXON Missense_R164H exm-rs2159324 19 45695738 [T/C] exm1480051 19 45716467 [G/C] NM_138568 EXOC3L2 EXON Missense_P364A exm1480052 19 45716471 [T/G] NM_138568 EXOC3L2 EXON Missense_D362E exm1480079 19 45728059 [T/C] NM_138568 EXOC3L2 EXON Missense_N173D exm1480082 19 45728082 [T/C] NM_138568 EXOC3L2 EXON Missense_R165Q exm1942412 19 45728158 [A/G] NM_138568 EXOC3L2 EXON Missense_R140C exm1480093 19 45731006 [T/G] NM_138568 EXOC3L2 EXON Missense_F106L exm1480098 19 45731302 [A/G] NM_138568 EXOC3L2 EXON Missense_R75C exm1480120 19 45762269 [A/G] NM_001199867,NM_031417 MARK4,MARK4 EXON Missense_R25H,Missense_R25H exm1480122 19 45762283 [T/G] NM_001199867,NM_031417 MARK4,MARK4 EXON Missense_G30C,Missense_G30C exm1480124 19 45762323 [A/G] NM_001199867,NM_031417 MARK4,MARK4 EXON Missense_R43Q,Missense_R43Q exm1480129 19 45766383 [A/G] NM_001199867,NM_031417 MARK4,MARK4 EXON Missense_I89V,Missense_I89V exm1480133 19 45766624 [T/C] NM_001199867,NM_031417 MARK4,MARK4 EXON Synonymous_I118I,Synonymous_I118I exm1480168 19 45781858 [A/G] NM_001199867,NM_031417 MARK4,MARK4 EXON Missense_D331N,Missense_D331N exm2253896 19 45783901 [T/C] NM_001199867,NM_031417 MARK4,MARK4 EXON Synonymous_N395N,Synonymous_N395N exm1480200 19 45790897 [A/G] NM_001199867,NM_031417 MARK4,MARK4 EXON Missense_R490Q,Missense_R490Q exm1480202 19 45790922 [T/C] NM_001199867,NM_031417 MARK4,MARK4 EXON Synonymous_P498P,Synonymous_P498P exm1480228 19 45801448 [T/C] NM_001199867,NM_031417 MARK4,MARK4 EXON Silent,Missense_S642L exm-rs4884 19 45810035 [A/G] NM_001824 CKM EXON Synonymous_I373I exm1480245 19 45810108 [T/C] NM_001824 CKM EXON Missense_Q349R exm1942465 19 45810862 [T/C] NM_001824 CKM EXON Missense_Q275R exm2268199 19 45818628 [A/G] NM_001824 CKM Silent exm1480273 19 45818750 [A/G] NM_001824 CKM EXON Missense_R152W exm1480276 19 45818809 [T/C] NM_001824 CKM EXON Missense_R132H exm1480277 19 45818825 [C/G] NM_001824 CKM EXON Missense_L127V exm1480286 19 45821183 [T/C] NM_001824 CKM EXON Missense_E83G exm1480294 19 45822809 [T/C] NM_001824 CKM EXON Missense_D55N exm1480301 19 45822882 [A/C] NM_001824 CKM EXON Missense_M30I exm1480334 19 45849920 [T/C] NM_177417 KLC3 EXON Missense_T126M exm1942485 19 45850724 [A/G] NM_177417 KLC3 EXON Missense_R170H exm1480346 19 45850726 [T/C] NM_177417 KLC3 EXON Nonsense_R171X exm1480351 19 45851233 [T/G] NM_177417 KLC3 EXON Missense_Q198H exm1942489 19 45851252 [T/G] NM_177417 KLC3 EXON Missense_A205S exm1942492 19 45851267 [A/C] NM_177417 KLC3 EXON Missense_L210M exm1480356 19 45851303 [T/C] NM_177417 KLC3 EXON Missense_R222C exm1480361 19 45851331 [A/G] NM_177417 KLC3 EXON Missense_R231H exm1480364 19 45851406 [T/C] NM_177417 KLC3 EXON Missense_A256V exm1480369 19 45851941 [T/C] NM_177417 KLC3 EXON Missense_H273Y exm1480375 19 45851985 [A/C] NM_177417 KLC3 EXON Missense_H287Q exm1480377 19 45851991 [T/G] NM_177417 KLC3 EXON Synonymous_A289A exm1480381 19 45852126 [T/C] NM_177417 KLC3 EXON Missense_R306C exm1480383 19 45852133 [A/G] NM_177417 KLC3 EXON Missense_R308Q exm1480384 19 45852156 [T/C] NM_177417 KLC3 EXON Missense_R316C exm1480388 19 45852179 [A/G] NM_177417 KLC3 EXON Synonymous_K323K exm1480391 19 45852778 [A/G] NM_177417 KLC3 EXON Missense_R354Q exm1480395 19 45852819 [A/G] NM_177417 KLC3 EXON Missense_G368R exm1480399 19 45852852 [A/C] NM_177417 KLC3 EXON Missense_N379H exm1480406 19 45853660 [T/C] NM_177417 KLC3 EXON Missense_L402P exm1480411 19 45853688 [A/C] NM_177417 KLC3 EXON Synonymous_L411L exm1480422 19 45853978 [A/G] NM_177417 KLC3 EXON Missense_R451Q exm1480431 19 45854238 [T/C] NM_177417 KLC3 EXON Missense_T469I exm1480434 19 45854274 [A/C] NM_177417 KLC3 EXON Missense_Q481P exm1480440 19 45854559 [A/C] NM_177417 KLC3 EXON Missense_L487M exm1480442 19 45854574 [T/C] NM_177417 KLC3 EXON Missense_R492W exm1480443 19 45854575 [A/G] NM_177417 KLC3 EXON Missense_R492Q exm1480453 19 45854910 [G/C] NM_000400 ERCC2 EXON Missense_E754Q exm1480454 19 45854919 [T/G] NM_000400 ERCC2 EXON Missense_K751Q exm1942531 19 45854955 [T/G] NM_000400 ERCC2 EXON Missense_L739I exm1480464 19 45855493 [A/G] NM_000400 ERCC2 EXON Missense_R722W exm1480465 19 45855507 [C/G] NM_000400 ERCC2 EXON Missense_A717G exm1480467 19 45855529 [T/C] NM_000400 ERCC2 EXON Missense_V710M exm1480469 19 45855543 [T/C] NM_000400 ERCC2 EXON Missense_N705S exm1480470 19 45855574 [A/G] NM_000400 ERCC2 EXON Missense_R695C exm1480479 19 45855795 [A/G] NM_000400 ERCC2 EXON Missense_T672M exm1480485 19 45855906 [A/G] NM_000400 ERCC2 EXON Missense_A635V exm1480498 19 45856370 [T/C] NM_000400 ERCC2 EXON Missense_R601Q exm1480503 19 45856397 [T/C] NM_000400 ERCC2 EXON Missense_R592H exm1480513 19 45858047 [T/C] NM_000400 ERCC2 EXON Missense_V536M exm1480529 19 45860760 [T/C] NM_000400 ERCC2 EXON Missense_R450H exm1480530 19 45860770 [T/C] NM_000400 ERCC2 EXON Missense_V447I exm1480539 19 45860928 [T/C] NM_000400 ERCC2 EXON Missense_D423N exm2275086 19 45867709 [T/C] NM_000400,NM_001130867 ERCC2,ERCC2 EXON Missense_V231M,Missense_V207M exm1480569 19 45867721 [A/G] NM_000400,NM_001130867 ERCC2,ERCC2 EXON Missense_R227C,Missense_R203C exm1480587 19 45868311 [A/G] NM_000400,NM_001130867 ERCC2,ERCC2 EXON Nonsense_R156X,Nonsense_R132X exm1480590 19 45868349 [T/C] NM_000400,NM_001130867 ERCC2,ERCC2 EXON Missense_R143Q,Missense_R119Q exm1480611 19 45872326 [A/T] NM_000400,NM_001130867 ERCC2,ERCC2 Silent,Silent exm1480618 19 45873449 [T/C] NM_000400,NM_001130867 ERCC2,ERCC2 EXON Missense_Y16C,Silent exm1480649 19 45895218 [G/C] NM_001142502,NM_006663 PPP1R13L,PPP1R13L EXON Missense_P579A,Missense_P579A exm1480666 19 45895521 [T/C] NM_001142502,NM_006663 PPP1R13L,PPP1R13L EXON Missense_D478N,Missense_D478N exm1480685 19 45898885 [T/C] NM_001142502,NM_006663 PPP1R13L,PPP1R13L EXON Missense_S388N,Missense_S388N exm2253897 19 45898890 [T/C] NM_001142502,NM_006663 PPP1R13L,PPP1R13L EXON Synonymous_G386G,Synonymous_G386G exm1480692 19 45899069 [A/C] NM_001142502,NM_006663 PPP1R13L,PPP1R13L EXON Missense_G327C,Missense_G327C exm1480693 19 45899087 [T/C] NM_001142502,NM_006663 PPP1R13L,PPP1R13L EXON Missense_D321N,Missense_D321N exm1480700 19 45899427 [T/C] NM_001142502,NM_006663 PPP1R13L,PPP1R13L EXON Missense_K301R,Missense_K301R exm1480702 19 45899469 [A/G] NM_001142502,NM_006663 PPP1R13L,PPP1R13L EXON Missense_P287L,Missense_P287L exm1480735 19 45910365 [C/G] NM_012099 CD3EAP EXON Missense_F12L exm1480739 19 45910441 [T/C] NM_012099 CD3EAP EXON Missense_P38S exm1480744 19 45911456 [A/G] NM_012099,NM_001983,NM_001166049 CD3EAP,ERCC1,ERCC1 EXON Missense_R77Q,Silent,Silent exm1480760 19 45911748 [T/G] NM_012099,NM_001983,NM_001166049 CD3EAP,ERCC1,ERCC1 EXON Missense_K174N,Silent,Silent exm1480766 19 45911899 [A/G] NM_012099,NM_001983,NM_001166049 CD3EAP,ERCC1,ERCC1 EXON Missense_E225K,Silent,Silent exm1480768 19 45911911 [T/C] NM_012099,NM_001983,NM_001166049 CD3EAP,ERCC1,ERCC1 EXON Missense_P229S,Silent,Silent exm1480778 19 45912113 [T/C] NM_012099,NM_001983,NM_001166049 CD3EAP,ERCC1,ERCC1 EXON Missense_T296M,Silent,Silent exm1480792 19 45912341 [T/C] NM_012099,NM_001983,NM_001166049 CD3EAP,ERCC1,ERCC1 EXON Missense_A372V,Silent,Silent exm1480793 19 45912343 [A/G] NM_012099,NM_001983,NM_001166049 CD3EAP,ERCC1,ERCC1 EXON Missense_K373E,Silent,Silent exm1480796 19 45912406 [A/G] NM_012099,NM_001983,NM_001166049 CD3EAP,ERCC1,ERCC1 EXON Missense_D394N,Silent,Silent exm1480797 19 45912413 [A/C] NM_012099,NM_001983,NM_001166049 CD3EAP,ERCC1,ERCC1 EXON Missense_T396K,Silent,Silent exm1480799 19 45912425 [A/G] NM_012099,NM_001983,NM_001166049 CD3EAP,ERCC1,ERCC1 EXON Missense_E400G,Silent,Silent exm1480801 19 45912434 [T/C] NM_012099,NM_001983,NM_001166049 CD3EAP,ERCC1,ERCC1 EXON Missense_V403A,Silent,Silent exm1480802 19 45912436 [A/G] NM_012099,NM_001983,NM_001166049 CD3EAP,ERCC1,ERCC1 EXON Missense_V404M,Silent,Silent exm1942646 19 45912440 [A/G] NM_012099,NM_001983,NM_001166049 CD3EAP,ERCC1,ERCC1 EXON Missense_G405E,Silent,Silent exm1480807 19 45912497 [A/C] NM_012099,NM_001983,NM_001166049 CD3EAP,ERCC1,ERCC1 EXON Missense_K424T,Silent,Silent exm1480833 19 45916813 [T/C] NM_001983,NM_001166049,NM_202001 ERCC1,ERCC1,ERCC1 EXON Silent,Silent,Missense_R322H exm1480834 19 45916814 [A/G] NM_001983,NM_001166049,NM_202001 ERCC1,ERCC1,ERCC1 EXON Silent,Silent,Missense_R322C exm1480838 19 45916903 [T/C] NM_001983,NM_001166049,NM_202001 ERCC1,ERCC1,ERCC1 EXON Silent,Silent,Nonsense_W292X exm1480843 19 45916979 [A/G] NM_001983,NM_001166049,NM_202001 ERCC1,ERCC1,ERCC1 EXON Missense_S267P,Missense_S243P,Missense_S267P exm1480844 19 45916982 [T/C] NM_001983,NM_001166049,NM_202001 ERCC1,ERCC1,ERCC1 EXON Missense_A266T,Missense_A242T,Missense_A266T exm1480846 19 45916985 [T/C] NM_001983,NM_001166049,NM_202001 ERCC1,ERCC1,ERCC1 EXON Missense_A265T,Missense_A241T,Missense_A265T exm2229553 19 45922414 [T/C] NM_001983,NM_001166049,NM_202001 ERCC1,ERCC1,ERCC1 EXON Missense_R156Q,Missense_R156Q,Missense_R156Q exm2253898 19 45923653 [A/G] NM_001983,NM_001166049,NM_202001 ERCC1,ERCC1,ERCC1 EXON Synonymous_N118N,Synonymous_N118N,Synonymous_N118N exm1480876 19 45923661 [T/C] NM_001983,NM_001166049,NM_202001 ERCC1,ERCC1,ERCC1 EXON Missense_V116M,Missense_V116M,Missense_V116M exm1480884 19 45924566 [A/G] NM_001983,NM_001166049,NM_202001 ERCC1,ERCC1,ERCC1 EXON Missense_A64V,Missense_A64V,Missense_A64V exm1480898 19 45971941 [A/G] NM_006732,NM_001114171 FOSB,FOSB EXON Missense_G33S,Missense_G33S exm1480903 19 45973971 [T/G] NM_006732,NM_001114171 FOSB,FOSB EXON Missense_V71L,Missense_V71L exm1480910 19 45974150 [T/G] NM_006732,NM_001114171 FOSB,FOSB EXON Missense_S130R,Missense_S130R exm1480921 19 45975962 [A/G] NM_006732,NM_001114171 FOSB,FOSB EXON Missense_E237K,Missense_E201K exm1480927 19 45976122 [A/G] NM_006732,NM_001114171 FOSB,FOSB EXON Missense_G290D,Missense_G254D exm1480934 19 45988974 [T/C] NM_005619,NM_206901,NM_206900 RTN2,RTN2,RTN2 EXON Missense_A544T,Missense_A204T,Missense_A471T exm1480937 19 45988997 [A/G] NM_005619,NM_206901,NM_206900 RTN2,RTN2,RTN2 EXON Missense_A536V,Missense_A196V,Missense_A463V exm1480952 19 45992174 [A/G] NM_005619,NM_206901,NM_206900 RTN2,RTN2,RTN2 EXON Missense_R438C,Missense_R98C,Missense_R365C exm1942700 19 45992212 [T/C] NM_005619,NM_206901,NM_206900 RTN2,RTN2,RTN2 EXON Missense_R425Q,Missense_R85Q,Missense_R352Q exm1480958 19 45992635 [T/C] NM_005619,NM_206901,NM_206900 RTN2,RTN2,RTN2 EXON Missense_V404M,Missense_V64M,Missense_V331M exm1480961 19 45992677 [T/C] NM_005619,NM_206901,NM_206900 RTN2,RTN2,RTN2 EXON Missense_G390S,Missense_G50S,Missense_G317S exm1480974 19 45996492 [A/G] NM_005619,NM_206901,NM_206900 RTN2,RTN2,RTN2 EXON Missense_L320P,Silent,Silent exm1480981 19 45997446 [T/G] NM_005619,NM_206900 RTN2,RTN2 EXON Missense_F264L,Missense_F264L exm1481012 19 45998398 [T/C] NM_005619,NM_206900 RTN2,RTN2 Silent,Silent exm1481026 19 46002007 [T/C] NM_001080401 PPM1N EXON Missense_P93S exm1481044 19 46002562 [A/G] NM_001080401 PPM1N EXON Missense_D278N exm1481045 19 46002583 [A/C] NM_001080401 PPM1N EXON Missense_L285M exm1481057 19 46003246 [T/C] NM_001080401 PPM1N EXON Missense_P327S exm1481061 19 46003720 [A/G] NM_001080401 PPM1N EXON Missense_C355Y exm1481065 19 46003785 [C/G] NM_001080401 PPM1N EXON Missense_P377A exm1481078 19 46021021 [A/G] NM_003370 VASP EXON Missense_V36I exm1942726 19 46021238 [T/C] NM_003370 VASP EXON Missense_P77S exm1481089 19 46021319 [A/G] NM_003370 VASP EXON Missense_A104T exm1481090 19 46021322 [A/G] NM_003370 VASP EXON Missense_G105S exm1481101 19 46025469 [A/C] NM_003370 VASP EXON Missense_N158H exm1481136 19 46029206 [T/G] NM_003370 VASP EXON Missense_E350D exm1481137 19 46029246 [A/G] NM_003370 VASP EXON Missense_E364K exm1481139 19 46029259 [A/C] NM_003370 VASP EXON Missense_E368A exm1481164 19 46032673 [T/C] NM_001017989 OPA3 EXON Missense_G62S exm1481171 19 46056834 [A/G] NM_001017989,NM_025136 OPA3,OPA3 EXON Silent,Missense_R160C exm1481177 19 46056975 [T/C] NM_001017989,NM_025136 OPA3,OPA3 EXON Silent,Missense_E113K exm1942788 19 46119772 [C/G] NM_012155,NR_034098,NM_001193269,NM_001193268 EML2,EML2,EML2,EML2 EXON Missense_V486L,Silent,Missense_V633L,Missense_V687L exm1481272 19 46120077 [T/C] NM_012155,NR_034098,NM_001193269,NM_001193268 EML2,EML2,EML2,EML2 EXON Missense_V453M,Silent,Missense_V600M,Missense_V654M exm1481279 19 46120937 [T/C] NM_012155,NR_034098,NM_001193269,NM_001193268 EML2,EML2,EML2,EML2 EXON Missense_G425S,Silent,Missense_G572S,Missense_G626S exm1481291 19 46124517 [T/C] NM_012155,NR_034098,NM_001193269,NM_001193268 EML2,EML2,EML2,EML2 EXON Missense_R357H,Silent,Missense_R504H,Missense_R558H exm1942799 19 46124782 [A/C] NM_012155,NR_034098,NM_001193269,NM_001193268 EML2,EML2,EML2,EML2 EXON Missense_V319F,Silent,Missense_V466F,Missense_V520F exm1481316 19 46124886 [T/C] NM_012155,NR_034098,NM_001193269,NM_001193268 EML2,EML2,EML2,EML2 EXON Missense_R284H,Silent,Missense_R431H,Missense_R485H exm1481321 19 46129979 [T/C] NM_012155,NR_034098,NM_001193269,NM_001193268 EML2,EML2,EML2,EML2 EXON Missense_R242Q,Silent,Missense_R389Q,Missense_R443Q exm1481324 19 46129999 [A/C] NM_012155,NR_034098,NM_001193269,NM_001193268 EML2,EML2,EML2,EML2 EXON Missense_E235D,Silent,Missense_E382D,Missense_E436D exm1481335 19 46133256 [A/G] NM_012155,NR_034098,NM_001193269,NM_001193268 EML2,EML2,EML2,EML2 EXON Missense_L187F,Silent,Missense_L334F,Missense_L388F exm1481347 19 46137650 [T/C] NM_012155,NR_034098,NM_001193269,NM_001193268 EML2,EML2,EML2,EML2 EXON Missense_V87I,Silent,Missense_V234I,Missense_V288I exm1481352 19 46137712 [T/C] NM_012155,NR_034098,NM_001193269,NM_001193268 EML2,EML2,EML2,EML2 EXON Missense_R66Q,Silent,Missense_R213Q,Missense_R267Q exm1481354 19 46137720 [T/G] NM_012155,NR_034098,NM_001193269,NM_001193268 EML2,EML2,EML2,EML2 EXON Nonsense_Y63X,Silent,Nonsense_Y210X,Nonsense_Y264X exm1481359 19 46141845 [T/C] NM_012155,NR_034098,NM_001193269,NM_001193268 EML2,EML2,EML2,EML2 EXON Missense_M33V,Silent,Missense_M180V,Missense_M234V exm1481377 19 46142624 [A/C] NM_012155,NR_034098,NM_001193269,NM_001193268 EML2,EML2,EML2,EML2 EXON Missense_F4C,Silent,Silent,Silent exm-rs8108269 19 46158513 [T/G] exm1481389 19 46173929 [G/C] NM_000164 GIPR EXON Missense_Q37E exm1481392 19 46174567 [A/G] NM_000164 GIPR EXON Missense_D66G exm1481398 19 46176123 [T/G] NM_000164 GIPR EXON Missense_V99F exm1481399 19 46176126 [T/C] NM_000164 GIPR EXON Missense_L100F exm1481400 19 46176130 [A/G] NM_000164 GIPR EXON Missense_R101H exm1481404 19 46176175 [C/G] NM_000164 GIPR EXON Missense_T116R exm1481409 19 46177353 [T/C] NM_000164 GIPR EXON Missense_R136W exm2253901 19 46177412 [T/C] NM_000164 GIPR EXON Synonymous_A155A exm1481420 19 46177999 [A/G] NM_000164 GIPR EXON Missense_R183Q exm1481421 19 46178016 [A/C] NM_000164 GIPR EXON Missense_S189R exm1481422 19 46178019 [T/C] NM_000164 GIPR EXON Nonsense_R190X exm1481423 19 46178020 [A/G] NM_000164 GIPR EXON Missense_R190Q exm1481427 19 46178071 [T/C] NM_000164 GIPR EXON Missense_A207V exm1942842 19 46180223 [T/G] NM_000164 GIPR EXON Missense_R217L exm1481436 19 46180329 [C/G] NM_000164 GIPR EXON Missense_E252D exm1481437 19 46180357 [G/C] NM_000164 GIPR EXON Missense_L262V exm1481441 19 46180590 [T/C] NM_000164 GIPR EXON Missense_A268V exm1481448 19 46180976 [A/G] NM_000164 GIPR EXON Missense_E288G exm1481457 19 46181392 [G/C] NM_000164 GIPR EXON Missense_E354Q exm1481461 19 46181466 [C/G] NM_000164 GIPR EXON Missense_I378M exm2229572 19 46185179 [G/C] NM_000164 GIPR EXON Missense_E463Q exm2253902 19 46191740 [C/G] NM_177542,NM_004597 SNRPD2,SNRPD2 EXON Synonymous_L19L,Synonymous_L29L exm1481513 19 46198708 [T/C] NM_017659,NM_001163377 QPCTL,QPCTL EXON Missense_T122M,Silent exm1481520 19 46198825 [A/G] NM_017659,NM_001163377 QPCTL,QPCTL EXON Missense_R161H,Silent exm1481524 19 46201812 [T/C] NM_017659,NM_001163377 QPCTL,QPCTL EXON Missense_P214L,Missense_P120L exm2275087 19 46202123 [A/G] NM_017659,NM_001163377 QPCTL,QPCTL EXON Missense_R284H,Missense_R190H exm1481537 19 46202131 [T/C] NM_017659,NM_001163377 QPCTL,QPCTL EXON Missense_R287C,Missense_R193C exm-rs2287019 19 46202172 [T/C] NM_017659,NM_001163377 QPCTL,QPCTL Silent,Silent exm1481546 19 46205166 [T/C] NM_017659,NM_001163377 QPCTL,QPCTL EXON Missense_R333C,Missense_R239C exm1481551 19 46206203 [A/G] NM_017659,NM_001163377 QPCTL,QPCTL EXON Missense_V349I,Missense_V255I exm1481556 19 46206249 [T/C] NM_017659,NM_001163377 QPCTL,QPCTL EXON Missense_T364M,Missense_T270M exm1481559 19 46206261 [T/C] NM_017659,NM_001163377 QPCTL,QPCTL EXON Missense_L368S,Missense_L274S exm1481595 19 46216104 [T/C] NM_001080469 FBXO46 EXON Missense_R217Q exm1481605 19 46216276 [A/G] NM_001080469 FBXO46 EXON Missense_P160S exm1481621 19 46216642 [T/G] NM_001080469 FBXO46 EXON Missense_P38T exm2273573 19 46268727 [A/G] NM_175875 SIX5 EXON Silent exm1481663 19 46269046 [A/G] NM_175875 SIX5 EXON Missense_P645S exm1481667 19 46269106 [T/C] NM_175875 SIX5 EXON Missense_A625T exm1481683 19 46269324 [A/G] NM_175875 SIX5 EXON Missense_T552M exm1481718 19 46270406 [T/C] NM_175875 SIX5 EXON Missense_D271N exm2229580 19 46273846 [A/T] NM_001081560,NM_004409,NM_001081563,NM_001081562 DMPK,DMPK,DMPK,DMPK EXON Missense_V592D,Missense_V597D,Missense_V607D,Missense_F591I exm1481758 19 46273867 [A/G] NM_001081560,NM_004409,NM_001081563,NM_001081562 DMPK,DMPK,DMPK,DMPK EXON Missense_S585F,Missense_S590F,Missense_S600F,Missense_P584S exm1481760 19 46273882 [A/G] NM_001081560,NM_004409,NM_001081563,NM_001081562 DMPK,DMPK,DMPK,DMPK EXON Missense_L580P,Missense_L585P,Missense_L595P,Missense_Y579H exm1481770 19 46274846 [A/C] NM_001081560,NM_004409,NM_001081563,NM_001081562 DMPK,DMPK,DMPK,DMPK EXON Missense_L522R,Missense_L527R,Missense_L537R,Missense_L522R exm1481776 19 46275050 [A/G] NM_001081560,NM_004409,NM_001081563,NM_001081562 DMPK,DMPK,DMPK,DMPK EXON Missense_T489M,Missense_T494M,Missense_T504M,Missense_T489M exm1481777 19 46275054 [A/G] NM_001081560,NM_004409,NM_001081563,NM_001081562 DMPK,DMPK,DMPK,DMPK EXON Missense_R488C,Missense_R493C,Missense_R503C,Missense_R488C exm1481781 19 46275164 [C/G] NM_001081560,NM_004409,NM_001081563,NM_001081562 DMPK,DMPK,DMPK,DMPK EXON Missense_A451G,Missense_A456G,Missense_A466G,Missense_A451G exm1481784 19 46275976 [G/C] NM_001081560,NM_004409,NM_001081563,NM_001081562 DMPK,DMPK,DMPK,DMPK EXON Missense_L418V,Missense_L423V,Missense_L433V,Missense_L418V exm1481789 19 46278261 [A/G] NM_001081560,NM_004409,NM_001081563,NM_001081562 DMPK,DMPK,DMPK,DMPK EXON Missense_P388L,Missense_P393L,Missense_P403L,Missense_P388L exm1481807 19 46280799 [T/C] NM_001081560,NM_004409,NM_001081563,NM_001081562 DMPK,DMPK,DMPK,DMPK EXON Missense_R311Q,Missense_R311Q,Missense_R321Q,Missense_R311Q exm1481809 19 46280838 [G/C] NM_001081560,NM_004409,NM_001081563,NM_001081562 DMPK,DMPK,DMPK,DMPK EXON Missense_S298C,Missense_S298C,Missense_S308C,Missense_S298C exm1481821 19 46281385 [T/C] NM_001081560,NM_004409,NM_001081563,NM_001081562 DMPK,DMPK,DMPK,DMPK EXON Synonymous_T225T,Synonymous_T225T,Synonymous_T235T,Synonymous_T225T exm1481822 19 46281386 [A/G] NM_001081560,NM_004409,NM_001081563,NM_001081562 DMPK,DMPK,DMPK,DMPK EXON Missense_T225M,Missense_T225M,Missense_T235M,Missense_T225M exm1481830 19 46281758 [T/C] NM_001081560,NM_004409,NM_001081563,NM_001081562 DMPK,DMPK,DMPK,DMPK EXON Missense_V192M,Missense_V192M,Missense_V202M,Missense_V192M exm1481845 19 46282757 [G/C] NM_001081560,NM_004409,NM_001081563,NM_001081562 DMPK,DMPK,DMPK,DMPK EXON Missense_Q92H,Missense_Q92H,Missense_Q102H,Missense_Q92H exm1481850 19 46283083 [T/C] NM_001081560,NM_004409,NM_001081563,NM_001081562 DMPK,DMPK,DMPK,DMPK EXON Missense_D69N,Missense_D69N,Missense_D79N,Missense_D69N exm1481884 19 46289009 [A/G] NM_004943 DMWD EXON Missense_A582V exm1481891 19 46289208 [T/C] NM_004943 DMWD EXON Missense_T516A exm1481900 19 46289382 [A/G] NM_004943 DMWD EXON Missense_R458C exm1481920 19 46289799 [A/G] NM_004943 DMWD EXON Missense_R319C exm1481939 19 46294291 [T/G] NM_004943 DMWD EXON Missense_T166P exm1481949 19 46299165 [T/C] NM_030785 RSPH6A EXON Missense_G706S exm1942998 19 46299329 [T/A] NM_030785 RSPH6A EXON Missense_K651M exm1481960 19 46303725 [A/G] NM_030785 RSPH6A EXON Missense_A632V exm1481964 19 46303747 [A/G] NM_030785 RSPH6A EXON Missense_R625C exm1481971 19 46305398 [A/G] NM_030785 RSPH6A EXON Missense_T593M exm1481972 19 46305407 [T/G] NM_030785 RSPH6A EXON Missense_P590Q exm1481975 19 46305507 [T/C] NM_030785 RSPH6A EXON Missense_V557M exm-rs8111071 19 46307406 [A/G] NM_030785 RSPH6A Silent exm1481982 19 46307565 [T/G] NM_030785 RSPH6A EXON Missense_E533A exm1481983 19 46307572 [T/C] NM_030785 RSPH6A EXON Missense_V531M exm1481984 19 46307592 [G/C] NM_030785 RSPH6A EXON Missense_P524R exm1481999 19 46307742 [A/G] NM_030785 RSPH6A EXON Missense_P474L exm1482008 19 46307912 [G/C] NM_030785 RSPH6A EXON Missense_E417D exm1482009 19 46307926 [T/C] NM_030785 RSPH6A EXON Missense_V413M exm1943015 19 46307934 [A/G] NM_030785 RSPH6A EXON Missense_P410L exm1943016 19 46307977 [C/G] NM_030785 RSPH6A EXON Missense_E396Q exm1482017 19 46307979 [T/C] NM_030785 RSPH6A EXON Missense_D395G exm1482034 19 46308217 [T/C] NM_030785 RSPH6A EXON Missense_V316I exm1482035 19 46308220 [T/C] NM_030785 RSPH6A EXON Missense_G315S exm1482038 19 46308275 [T/C] NM_030785 RSPH6A Silent exm1482054 19 46313994 [A/G] NM_030785 RSPH6A EXON Missense_F252S exm1482060 19 46317797 [T/C] NM_030785 RSPH6A EXON Missense_C213Y exm1482063 19 46317852 [C/G] NM_030785 RSPH6A EXON Missense_L195V exm1482074 19 46318065 [A/G] NM_030785 RSPH6A EXON Nonsense_Q124X exm1482078 19 46318181 [A/C] NM_030785 RSPH6A EXON Missense_M85R exm2276655 19 46318286 [A/G] NM_030785 RSPH6A EXON Missense_A50V exm1482081 19 46318293 [A/G] NM_030785 RSPH6A EXON Missense_P48S exm1482091 19 46318864 [T/G] NM_004819 SYMPK EXON Missense_P1260Q exm1482106 19 46319245 [A/G] NM_004819 SYMPK EXON Missense_P1184L exm1482107 19 46319246 [A/G] NM_004819 SYMPK EXON Missense_P1184S exm1482116 19 46319296 [A/G] NM_004819 SYMPK EXON Missense_P1167L exm1482121 19 46319395 [A/G] NM_004819 SYMPK EXON Missense_P1134L exm1482134 19 46320082 [A/G] NM_004819 SYMPK EXON Missense_H1078Y exm1482175 19 46330800 [C/G] NM_004819 SYMPK EXON Missense_L717V exm1943068 19 46332306 [A/G] NM_004819 SYMPK EXON Missense_S636L exm1482190 19 46332369 [T/C] NM_004819 SYMPK EXON Missense_R615H exm1482192 19 46332420 [A/G] NM_004819 SYMPK EXON Missense_S598L exm1482195 19 46333349 [T/C] NM_004819 SYMPK EXON Missense_R571Q exm1482203 19 46334666 [A/G] NM_004819 SYMPK EXON Missense_P525L exm2253904 19 46357679 [T/C] NM_004819 SYMPK EXON Synonymous_P25P exm1482271 19 46357723 [A/G] NM_004819 SYMPK EXON Missense_R11C exm1482272 19 46357729 [T/C] NM_004819 SYMPK EXON Missense_V9I exm1482291 19 46375594 [T/C] NM_004497 FOXA3 EXON Missense_R111W exm2275088 19 46375727 [A/G] NM_004497 FOXA3 EXON Missense_R155Q exm2253905 19 46375974 [T/C] NM_004497 FOXA3 EXON Synonymous_A237A exm1482313 19 46376006 [A/C] NM_004497 FOXA3 EXON Missense_T248N exm1482315 19 46376089 [C/G] NM_004497 FOXA3 EXON Missense_P276A exm1482321 19 46376149 [A/G] NM_004497 FOXA3 EXON Missense_A296T exm1482322 19 46376156 [A/G] NM_004497 FOXA3 EXON Missense_Y298C exm1943113 19 46376202 [C/G] NM_004497 FOXA3 EXON Missense_Q313H exm1482331 19 46376309 [T/C] NM_004497 FOXA3 EXON Missense_A349V exm1482338 19 46387435 [A/T] NM_015649 IRF2BP1 EXON Missense_E533V exm1482372 19 46388419 [A/G] NM_015649 IRF2BP1 EXON Missense_A205V exm1482376 19 46388473 [A/G] NM_015649 IRF2BP1 EXON Missense_P187L exm1482390 19 46393885 [A/G] NM_001012643 MYPOP EXON Missense_P399L exm1482396 19 46394036 [T/C] NM_001012643 MYPOP EXON Missense_V349M exm1482398 19 46394095 [T/G] NM_001012643 MYPOP EXON Missense_P329H exm2253906 19 46404579 [A/G] NM_001012643 MYPOP EXON Synonymous_P151P exm1482456 19 46417735 [A/G] NM_001029861 NANOS2 EXON Missense_R73C exm1482457 19 46417748 [T/G] NM_001029861 NANOS2 EXON Missense_H68Q exm1482465 19 46417875 [T/C] NM_001029861 NANOS2 EXON Missense_R26Q exm1482466 19 46417897 [A/C] NM_001029861 NANOS2 EXON Missense_V19L exm1482498 19 46444134 [T/C] NM_002516 NOVA2 EXON Missense_V156M exm1482525 19 46498340 [T/G] exm1482532 19 46498702 [T/G] exm1482544 19 46506423 [T/C] NM_001267723 CCDC61 EXON Synonymous_G49G exm1482547 19 46506694 [T/C] NM_001267723 CCDC61 EXON Missense_H56Y exm1482556 19 46509917 [T/C] NM_001267723 CCDC61 EXON Missense_S111L exm1482559 19 46511421 [T/C] NM_001267723 CCDC61 EXON Missense_P138L exm1482564 19 46511522 [A/G] NM_001267723 CCDC61 EXON Missense_D172N exm1482565 19 46511528 [T/C] NM_001267723 CCDC61 EXON Missense_R174W exm1482567 19 46511543 [T/C] NM_001267723 CCDC61 EXON Missense_W179R exm1943200 19 46518636 [T/C] NM_001267723 CCDC61 EXON Missense_R266C exm1482582 19 46518651 [A/G] NM_001267723 CCDC61 EXON Missense_T271A exm1482584 19 46518682 [A/G] NM_001267723 CCDC61 EXON Missense_R281K exm1482599 19 46520288 [A/G] NM_001267723 CCDC61 EXON Missense_C424Y exm1482602 19 46520506 [G/C] NM_001267723 CCDC61 EXON Missense_G438R exm1482608 19 46521348 [A/G] NM_001267723 CCDC61 EXON Missense_V461M exm1482611 19 46521569 [T/C] NM_001267723 CCDC61 EXON Missense_A488V exm1482612 19 46521583 [A/G] NM_001267723 CCDC61 EXON Missense_E493K exm1482614 19 46521596 [A/G] NM_001267723 CCDC61 EXON Missense_R497H exm1482616 19 46521626 [A/G] NM_001267723 CCDC61 EXON Missense_R507Q exm1482629 19 46522596 [T/G] NM_005091 PGLYRP1 EXON Missense_N164T exm1482634 19 46522659 [A/T] NM_005091 PGLYRP1 EXON Missense_Q143L exm1482636 19 46522784 [A/C] NM_005091 PGLYRP1 EXON Missense_D137Y exm1482640 19 46522874 [T/C] NM_005091 PGLYRP1 EXON Missense_E107K exm1482645 19 46526050 [T/G] NM_005091 PGLYRP1 EXON Missense_A77D exm2229598 19 46526169 [T/G] NM_005091 PGLYRP1 EXON Missense_N37K exm1482649 19 46526179 [A/C] NM_005091 PGLYRP1 EXON Missense_V34G exm1482650 19 46526182 [A/G] NM_005091 PGLYRP1 EXON Missense_I33T exm1482655 19 46526272 [T/C] NM_005091 PGLYRP1 EXON Missense_R3H exm1482662 19 46543422 [T/C] NM_001002923 IGFL4 EXON Missense_C108Y exm1482665 19 46543474 [T/C] NM_001002923 IGFL4 EXON Missense_K91E exm1482671 19 46543558 [T/C] NM_001002923 IGFL4 EXON Missense_G63S exm1482672 19 46543566 [T/C] NM_001002923 IGFL4 EXON Missense_R60Q exm2253911 19 46543615 [A/G] NM_001002923 IGFL4 EXON Synonymous_L44L exm1482681 19 46543671 [A/G] NM_001002923 IGFL4 EXON Missense_L25P exm2264682 19 46571668 [A/C] exm1482693 19 46627291 [A/G] NM_207393 IGFL3 EXON Missense_R68C exm1482694 19 46627294 [A/G] NM_207393 IGFL3 EXON Missense_R67C exm1482695 19 46627296 [G/C] NM_207393 IGFL3 EXON Missense_T66S exm1482706 19 46627412 [A/G] NM_207393 IGFL3 EXON Synonymous_D27D exm-rs9304655 19 46646841 [A/G] exm1482723 19 46663693 [T/G] NM_001002915,NM_001135113 IGFL2,IGFL2 EXON Missense_C25F,Missense_C14F exm1482731 19 46663897 [T/G] NM_001002915,NM_001135113 IGFL2,IGFL2 EXON Missense_C45G,Missense_C34G exm1482734 19 46663981 [A/G] NM_001002915,NM_001135113 IGFL2,IGFL2 EXON Missense_E73K,Missense_E62K exm1482736 19 46663987 [T/C] NM_001002915,NM_001135113 IGFL2,IGFL2 EXON Missense_R75C,Missense_R64C exm1482744 19 46664335 [A/G] NM_001002915,NM_001135113 IGFL2,IGFL2 EXON Missense_R128H,Missense_R117H exm2229600 19 46664561 [A/G] NM_001002915,NM_001135113 IGFL2,IGFL2 EXON Silent,Silent exm1482751 19 46733386 [T/C] NR_046936,NM_198541 RNU6-66,IGFL1 EXON Silent,Missense_I16T exm1482753 19 46733409 [A/G] NR_046936,NM_198541 RNU6-66,IGFL1 EXON Silent,Missense_G24R exm1482754 19 46733532 [A/G] NR_046936,NM_198541 RNU6-66,IGFL1 EXON Silent,Synonymous_V27V exm1482755 19 46733560 [T/G] NR_046936,NM_198541 RNU6-66,IGFL1 EXON Silent,Missense_C37G exm1482763 19 46733750 [T/C] NR_046936,NM_198541 RNU6-66,IGFL1 EXON Silent,Missense_T100I exm2268201 19 46768753 [A/G] NR_046936 RNU6-66 Silent exm1482799 19 46811488 [T/C] NM_152795,NM_022462,NM_152796,NM_152794 HIF3A,HIF3A,HIF3A,HIF3A EXON Missense_I125T,Missense_I56T,Missense_I56T,Missense_I123T exm2275089 19 46811935 [A/C] NM_152795,NM_022462,NM_152796,NM_152794 HIF3A,HIF3A,HIF3A,HIF3A EXON Missense_K155T,Missense_K86T,Missense_K86T,Missense_K153T exm1482807 19 46811983 [T/C] NM_152795,NM_022462,NM_152796,NM_152794 HIF3A,HIF3A,HIF3A,HIF3A EXON Missense_T171I,Missense_T102I,Missense_T102I,Missense_T169I exm1482825 19 46812559 [A/G] NM_152795,NM_022462,NM_152796,NM_152794 HIF3A,HIF3A,HIF3A,HIF3A EXON Missense_R238Q,Missense_R169Q,Missense_R169Q,Missense_R236Q exm1482836 19 46815524 [T/C] NM_152795,NM_022462,NM_152796,NM_152794 HIF3A,HIF3A,HIF3A,HIF3A EXON Synonymous_L293L,Synonymous_L224L,Synonymous_L224L,Synonymous_L291L exm1482848 19 46823702 [A/G] NM_152795,NM_022462,NM_152796,NM_152794 HIF3A,HIF3A,HIF3A,HIF3A EXON Missense_Q343R,Missense_Q274R,Missense_Q274R,Missense_Q341R exm1482853 19 46823776 [A/G] NM_152795,NM_022462,NM_152796,NM_152794 HIF3A,HIF3A,HIF3A,HIF3A EXON Missense_A368T,Missense_A299T,Missense_A299T,Missense_A366T exm1482854 19 46823777 [A/C] NM_152795,NM_022462,NM_152796,NM_152794 HIF3A,HIF3A,HIF3A,HIF3A EXON Missense_A368D,Missense_A299D,Missense_A299D,Missense_A366D exm1482856 19 46823803 [T/C] NM_152795,NM_022462,NM_152796,NM_152794 HIF3A,HIF3A,HIF3A,HIF3A EXON Missense_P377S,Missense_P308S,Missense_P308S,Missense_P375S exm1482862 19 46825107 [T/C] NM_152795,NM_022462,NM_152796,NM_152794 HIF3A,HIF3A,HIF3A,HIF3A EXON Missense_R407C,Missense_R338C,Missense_R338C,Missense_R405C exm1482865 19 46825135 [A/G] NM_152795,NM_022462,NM_152796,NM_152794 HIF3A,HIF3A,HIF3A,HIF3A EXON Missense_R416H,Missense_R347H,Missense_R347H,Missense_R414H exm1482874 19 46828813 [T/C] NM_152795,NM_022462,NM_152796,NM_152794 HIF3A,HIF3A,HIF3A,HIF3A EXON Missense_P453S,Missense_P384S,Missense_P384S,Missense_P451S exm1482879 19 46828877 [T/C] NM_152795,NM_022462,NM_152796,NM_152794 HIF3A,HIF3A,HIF3A,HIF3A EXON Missense_T474I,Missense_T405I,Missense_T405I,Missense_T472I exm1482880 19 46828882 [T/G] NM_152795,NM_022462,NM_152796,NM_152794 HIF3A,HIF3A,HIF3A,HIF3A EXON Missense_L476V,Missense_L407V,Missense_L407V,Missense_L474V exm1482883 19 46832554 [A/G] NM_152795,NM_022462,NM_152796,NM_152794 HIF3A,HIF3A,HIF3A,HIF3A EXON Missense_A511T,Missense_A442T,Silent,Missense_A509T exm1482888 19 46832597 [A/G] NM_152795,NM_022462,NM_152796,NM_152794 HIF3A,HIF3A,HIF3A,HIF3A EXON Missense_R525Q,Missense_R456Q,Silent,Missense_R523Q exm1482893 19 46832665 [T/C] NM_152795,NM_022462,NM_152796,NM_152794 HIF3A,HIF3A,HIF3A,HIF3A EXON Missense_R548W,Missense_R479W,Silent,Missense_R546W exm1482897 19 46832695 [A/G] NM_152795,NM_022462,NM_152796,NM_152794 HIF3A,HIF3A,HIF3A,HIF3A EXON Missense_D558N,Missense_D489N,Silent,Missense_D556N exm1482917 19 46842859 [A/G] NM_152795,NM_022462,NM_152794 HIF3A,HIF3A,HIF3A EXON Missense_G664S,Missense_G595S,Missense_G662S exm2276656 19 46850394 [A/C] NM_006247,NM_001204284 PPP5C,PPP5C EXON Missense_P14H,Missense_P14H exm1482978 19 46890426 [A/G] NM_006247,NM_001204284 PPP5C,PPP5C EXON Missense_M327I,Missense_M305I exm1483000 19 46893361 [A/G] NM_006247,NM_001204284 PPP5C,PPP5C EXON Missense_R470Q,Missense_R448Q exm1483002 19 46893553 [A/G] NM_006247,NM_001204284 PPP5C,PPP5C EXON Missense_V484I,Missense_V462I exm1483009 19 46914459 [A/G] NM_032040 CCDC8 EXON Nonsense_Q537X exm1483010 19 46914463 [T/G] NM_032040 CCDC8 EXON Missense_E535D exm1483018 19 46914547 [G/C] NM_032040 CCDC8 EXON Missense_K507N exm1483019 19 46914608 [A/G] NM_032040 CCDC8 EXON Missense_S487L exm1483032 19 46914890 [A/G] NM_032040 CCDC8 EXON Missense_A393V exm1483033 19 46914921 [A/G] NM_032040 CCDC8 EXON Missense_H383Y exm1483034 19 46914927 [T/C] NM_032040 CCDC8 EXON Missense_D381N exm1943449 19 46914974 [T/G] NM_032040 CCDC8 EXON Missense_D365A exm1483038 19 46915023 [G/C] NM_032040 CCDC8 EXON Missense_A349P exm1483042 19 46915091 [T/C] NM_032040 CCDC8 EXON Missense_D326G exm1483044 19 46915114 [A/C] NM_032040 CCDC8 EXON Missense_N318K exm1483048 19 46915140 [G/C] NM_032040 CCDC8 EXON Missense_D310H exm1483051 19 46915163 [T/C] NM_032040 CCDC8 EXON Missense_S302N exm1483052 19 46915182 [T/C] NM_032040 CCDC8 EXON Missense_G296R exm1483054 19 46915192 [A/C] NM_032040 CCDC8 EXON Missense_E292D exm1483055 19 46915206 [T/C] NM_032040 CCDC8 EXON Missense_G288R exm1483057 19 46915244 [T/C] NM_032040 CCDC8 EXON Missense_R275Q exm1483058 19 46915245 [A/G] NM_032040 CCDC8 EXON Missense_R275W exm1483060 19 46915250 [A/G] NM_032040 CCDC8 EXON Missense_S273F exm1483067 19 46915469 [A/T] NM_032040 CCDC8 EXON Missense_Q200L exm1943456 19 46915774 [T/G] NM_032040 CCDC8 EXON Missense_D98E exm2229613 19 46916001 [T/C] NM_032040 CCDC8 EXON Missense_V23I exm1483093 19 46916025 [A/G] NM_032040 CCDC8 EXON Missense_R15W exm1483097 19 46971803 [C/G] NM_018215,NM_001103149 PNMAL1,PNMAL1 EXON Silent,Missense_P377R exm1483105 19 46973002 [A/G] NM_018215,NM_001103149 PNMAL1,PNMAL1 EXON Missense_R431C,Silent exm1483108 19 46973026 [A/C] NM_018215,NM_001103149 PNMAL1,PNMAL1 EXON Missense_A423S,Silent exm1483123 19 46973245 [T/C] NM_018215,NM_001103149 PNMAL1,PNMAL1 EXON Missense_V350M,Missense_V350M exm1483127 19 46973314 [T/C] NM_018215,NM_001103149 PNMAL1,PNMAL1 EXON Missense_E327K,Missense_E327K exm1483130 19 46973338 [A/G] NM_018215,NM_001103149 PNMAL1,PNMAL1 EXON Missense_P319S,Missense_P319S exm1483133 19 46973409 [T/C] NM_018215,NM_001103149 PNMAL1,PNMAL1 EXON Missense_C295Y,Missense_C295Y exm1483138 19 46973496 [T/C] NM_018215,NM_001103149 PNMAL1,PNMAL1 EXON Missense_N266S,Missense_N266S exm1483141 19 46973549 [G/C] NM_018215,NM_001103149 PNMAL1,PNMAL1 EXON Missense_K248N,Missense_K248N exm1483150 19 46973707 [T/C] NM_018215,NM_001103149 PNMAL1,PNMAL1 EXON Missense_V196M,Missense_V196M exm1483155 19 46973821 [T/C] NM_018215,NM_001103149 PNMAL1,PNMAL1 EXON Missense_V158M,Missense_V158M exm1483160 19 46974003 [T/C] NM_018215,NM_001103149 PNMAL1,PNMAL1 EXON Missense_C97Y,Missense_C97Y exm1483161 19 46974058 [T/G] NM_018215,NM_001103149 PNMAL1,PNMAL1 EXON Missense_L79M,Missense_L79M exm1483163 19 46974097 [T/C] NM_018215,NM_001103149 PNMAL1,PNMAL1 EXON Missense_V66I,Missense_V66I exm1483165 19 46974190 [T/C] NM_018215,NM_001103149 PNMAL1,PNMAL1 EXON Missense_G35R,Missense_G35R exm1483182 19 46996933 [A/G] NM_001205281,NM_020709 PPP5D1,PNMAL2 EXON Silent,Missense_A597V exm1483192 19 46997149 [A/G] NM_001205281,NM_020709 PPP5D1,PNMAL2 EXON Silent,Missense_P525L exm1483210 19 46997459 [T/C] NM_001205281,NM_020709 PPP5D1,PNMAL2 EXON Silent,Missense_D422N exm1483213 19 46997522 [T/C] NM_001205281,NM_020709 PPP5D1,PNMAL2 EXON Silent,Missense_V401I exm1483217 19 46997684 [A/G] NM_001205281,NM_020709 PPP5D1,PNMAL2 EXON Silent,Missense_R347W exm1483222 19 46997821 [A/G] NM_001205281,NM_020709 PPP5D1,PNMAL2 EXON Silent,Missense_T301I exm1483227 19 46997972 [T/G] NM_001205281,NM_020709 PPP5D1,PNMAL2 EXON Silent,Missense_R251S exm1483240 19 46998236 [T/C] NM_001205281,NM_020709 PPP5D1,PNMAL2 EXON Silent,Missense_G163S exm1483243 19 46998290 [T/C] NM_001205281,NM_020709 PPP5D1,PNMAL2 EXON Silent,Missense_G145R exm1483244 19 46998301 [G/C] NM_001205281,NM_020709 PPP5D1,PNMAL2 EXON Silent,Missense_G141A exm1483245 19 46998334 [C/G] NM_001205281,NM_020709 PPP5D1,PNMAL2 EXON Silent,Missense_P130R exm1483258 19 46998551 [T/C] NM_001205281,NM_020709 PPP5D1,PNMAL2 EXON Silent,Missense_M58V exm1483260 19 46998601 [T/G] NM_001205281,NM_020709 PPP5D1,PNMAL2 EXON Silent,Missense_P41Q exm1483266 19 46998691 [T/C] NM_001205281,NM_020709 PPP5D1,PNMAL2 EXON Silent,Missense_R11Q exm1483268 19 47104226 [T/C] NM_001205281 PPP5D1 EXON Missense_M1V exm1483303 19 47124591 [T/G] NM_000960 PTGIR EXON Missense_S369R exm1483307 19 47124649 [A/G] NM_000960 PTGIR EXON Missense_S350L exm1483312 19 47124742 [G/C] NM_000960 PTGIR EXON Missense_S319W exm1483315 19 47124761 [T/C] NM_000960 PTGIR EXON Missense_G313R exm1483323 19 47124899 [T/C] NM_000960 PTGIR EXON Missense_D267N exm1483327 19 47126792 [T/C] NM_000960 PTGIR EXON Missense_G231R exm1483329 19 47126807 [T/G] NM_000960 PTGIR EXON Missense_P226T exm1483330 19 47126849 [A/G] NM_000960 PTGIR EXON Missense_R212C exm1483331 19 47126873 [T/C] NM_000960 PTGIR EXON Missense_G204S exm1483332 19 47126903 [T/G] NM_000960 PTGIR EXON Missense_L194M exm1483334 19 47126996 [A/G] NM_000960 PTGIR EXON Nonsense_Q163X exm1483352 19 47127254 [A/G] NM_000960 PTGIR EXON Missense_R77C exm1943546 19 47137864 [A/G] NM_033258 GNG8 EXON Missense_R26C exm1483376 19 47151834 [T/C] NM_145056 DACT3 EXON Missense_A599T exm2253913 19 47175528 [T/C] NR_040042 DACT3-AS1 Silent exm1483405 19 47177800 [T/C] NR_040042,NM_001079881,NM_001079880,NM_001079882,NM_016457 DACT3-AS1,PRKD2,PRKD2,PRKD2,PRKD2 EXON Silent,Missense_E873K,Missense_E873K,Missense_E716K,Missense_E873K exm1483409 19 47177913 [A/G] NR_040042,NM_001079881,NM_001079880,NM_001079882,NM_016457 DACT3-AS1,PRKD2,PRKD2,PRKD2,PRKD2 EXON Silent,Missense_V835A,Missense_V835A,Missense_V678A,Missense_V835A exm1483431 19 47192949 [A/G] NM_001079881,NM_001079880,NM_001079882,NM_016457 PRKD2,PRKD2,PRKD2,PRKD2 EXON Missense_R606W,Missense_R606W,Missense_R449W,Missense_R606W exm1483432 19 47192955 [T/C] NM_001079881,NM_001079880,NM_001079882,NM_016457 PRKD2,PRKD2,PRKD2,PRKD2 EXON Missense_S604G,Missense_S604G,Missense_S447G,Missense_S604G exm1943580 19 47197140 [A/G] NM_001079881,NM_001079880,NM_001079882,NM_016457 PRKD2,PRKD2,PRKD2,PRKD2 EXON Missense_A523V,Missense_A523V,Missense_A366V,Missense_A523V exm1943582 19 47197177 [T/C] NM_001079881,NM_001079880,NM_001079882,NM_016457 PRKD2,PRKD2,PRKD2,PRKD2 EXON Missense_V511I,Missense_V511I,Missense_V354I,Missense_V511I exm1483449 19 47197251 [A/G] NM_001079881,NM_001079880,NM_001079882,NM_016457 PRKD2,PRKD2,PRKD2,PRKD2 EXON Missense_P486L,Missense_P486L,Missense_P329L,Missense_P486L exm1483472 19 47204162 [T/C] NM_001079881,NM_001079880,NM_001079882,NM_016457 PRKD2,PRKD2,PRKD2,PRKD2 EXON Missense_A339T,Missense_A339T,Missense_A182T,Missense_A339T exm1483475 19 47204207 [T/C] NM_001079881,NM_001079880,NM_001079882,NM_016457 PRKD2,PRKD2,PRKD2,PRKD2 EXON Missense_V324M,Missense_V324M,Missense_V167M,Missense_V324M exm1483484 19 47207539 [G/C] NM_001079881,NM_001079880,NM_001079882,NM_016457 PRKD2,PRKD2,PRKD2,PRKD2 EXON Missense_S259C,Missense_S259C,Missense_S102C,Missense_S259C exm-rs11083846 19 47207654 [A/G] NM_001079881,NM_001079880,NM_001079882,NM_016457 PRKD2,PRKD2,PRKD2,PRKD2 Silent,Silent,Silent,Silent exm1483491 19 47207796 [A/G] NM_001079881,NM_001079880,NM_001079882,NM_016457 PRKD2,PRKD2,PRKD2,PRKD2 EXON Missense_R208C,Missense_R208C,Missense_R51C,Missense_R208C exm1483493 19 47207846 [A/G] NM_001079881,NM_001079880,NM_001079882,NM_016457 PRKD2,PRKD2,PRKD2,PRKD2 EXON Missense_A191V,Missense_A191V,Missense_A34V,Missense_A191V exm-rs425105 19 47208481 [T/C] NM_001079881,NM_001079880,NM_001079882,NM_016457 PRKD2,PRKD2,PRKD2,PRKD2 Silent,Silent,Silent,Silent exm1483517 19 47223981 [T/C] NM_013403,NM_001039877 STRN4,STRN4 EXON Missense_V714M,Missense_V721M exm1483535 19 47226094 [A/G] NM_013403,NM_001039877 STRN4,STRN4 EXON Missense_L627F,Missense_L634F exm1483536 19 47226115 [T/C] NM_013403,NM_001039877 STRN4,STRN4 EXON Missense_M620V,Missense_M627V exm1483537 19 47226138 [A/G] NM_013403,NM_001039877 STRN4,STRN4 EXON Missense_S612F,Missense_S619F exm1483541 19 47226434 [T/C] NM_013403,NM_001039877 STRN4,STRN4 EXON Missense_V568I,Missense_V575I exm1483547 19 47226533 [C/G] NM_013403,NM_001039877 STRN4,STRN4 EXON Missense_V535L,Missense_V542L exm1483585 19 47231907 [T/C] NM_013403,NM_001039877 STRN4,STRN4 EXON Missense_R336Q,Missense_R336Q exm1483589 19 47233996 [A/C] NM_013403,NM_001039877 STRN4,STRN4 EXON Missense_R291L,Missense_R291L exm1483613 19 47240137 [A/G] NM_013403,NM_001039877 STRN4,STRN4 EXON Missense_S161L,Missense_S161L exm1483619 19 47242081 [T/C] NM_013403,NM_001039877 STRN4,STRN4 EXON Missense_R116Q,Missense_R116Q exm1483620 19 47242093 [A/G] NM_013403,NM_001039877 STRN4,STRN4 EXON Missense_T112M,Missense_T112M exm1483623 19 47249458 [A/G] NM_013403,NM_001039877,NM_001039885,NM_024301 STRN4,STRN4,FKRP,FKRP EXON Missense_A77V,Missense_A77V,Silent,Silent exm1483634 19 47258942 [A/G] NM_001039885,NM_024301 FKRP,FKRP EXON Missense_V79M,Missense_V79M exm1483676 19 47259861 [T/C] NM_001039885,NM_024301 FKRP,FKRP EXON Missense_S385L,Missense_S385L exm1483678 19 47259884 [A/G] NM_001039885,NM_024301 FKRP,FKRP EXON Missense_V393I,Missense_V393I exm1483688 19 47260013 [T/C] NM_001039885,NM_024301 FKRP,FKRP EXON Missense_R436W,Missense_R436W exm1483699 19 47278771 [A/G] NM_001145144,NM_005628,NM_001145145 SLC1A5,SLC1A5,SLC1A5 EXON Missense_M313T,Missense_M541T,Missense_M339T exm1483703 19 47278859 [G/C] NM_001145144,NM_005628,NM_001145145 SLC1A5,SLC1A5,SLC1A5 EXON Missense_V284L,Missense_V512L,Missense_V310L exm1483709 19 47278988 [T/C] NM_001145144,NM_005628,NM_001145145 SLC1A5,SLC1A5,SLC1A5 EXON Missense_V241I,Missense_V469I,Missense_V267I exm1483712 19 47280263 [T/G] NM_001145144,NM_005628,NM_001145145 SLC1A5,SLC1A5,SLC1A5 EXON Missense_I225L,Missense_I453L,Missense_I251L exm1943678 19 47280268 [T/G] NM_001145144,NM_005628,NM_001145145 SLC1A5,SLC1A5,SLC1A5 EXON Missense_D223A,Missense_D451A,Missense_D249A exm1483718 19 47280535 [T/C] NM_001145144,NM_005628,NM_001145145 SLC1A5,SLC1A5,SLC1A5 EXON Missense_V168M,Missense_V396M,Missense_V194M exm1483721 19 47280574 [T/C] NM_001145144,NM_005628,NM_001145145 SLC1A5,SLC1A5,SLC1A5 EXON Missense_A155T,Missense_A383T,Missense_A181T exm1483734 19 47281982 [G/C] NM_001145144,NM_005628,NM_001145145 SLC1A5,SLC1A5,SLC1A5 EXON Missense_F108L,Missense_F336L,Missense_F134L exm1483744 19 47285695 [A/G] NM_001145144,NM_005628,NM_001145145 SLC1A5,SLC1A5,SLC1A5 EXON Missense_R29C,Missense_R257C,Missense_R55C exm1483745 19 47285706 [A/T] NM_001145144,NM_005628,NM_001145145 SLC1A5,SLC1A5,SLC1A5 EXON Missense_E25V,Missense_E253V,Missense_E51V exm1483746 19 47285707 [T/C] NM_001145144,NM_005628,NM_001145145 SLC1A5,SLC1A5,SLC1A5 EXON Missense_E25K,Missense_E253K,Missense_E51K exm1483769 19 47290930 [T/C] NM_005628 SLC1A5 EXON Missense_R98H exm1483801 19 47422477 [T/C] NM_004491 ARHGAP35 EXON Missense_S182F exm1483802 19 47422480 [A/G] NM_004491 ARHGAP35 EXON Missense_N183S exm1483807 19 47422696 [A/G] NM_004491 ARHGAP35 EXON Missense_K255R exm1483809 19 47422792 [A/G] NM_004491 ARHGAP35 EXON Missense_N287S exm1483810 19 47422798 [A/G] NM_004491 ARHGAP35 EXON Missense_N289S exm1483814 19 47422909 [A/T] NM_004491 ARHGAP35 EXON Missense_H326L exm2253914 19 47423120 [T/C] NM_004491 ARHGAP35 EXON Synonymous_N396N exm2253915 19 47423240 [T/C] NM_004491 ARHGAP35 EXON Synonymous_F436F exm1483824 19 47423240 [T/C] NM_004491 ARHGAP35 EXON Synonymous_F436F exm1483860 19 47424624 [A/G] NM_004491 ARHGAP35 EXON Missense_N898D exm1483877 19 47425225 [A/G] NM_004491 ARHGAP35 EXON Missense_R1098K exm1483929 19 47535544 [T/C] NM_002517 NPAS1 EXON Missense_R123C exm2253916 19 47535555 [T/C] NM_002517 NPAS1 EXON Synonymous_P126P exm1483952 19 47542726 [T/C] NM_002517 NPAS1 EXON Missense_T289M exm1483958 19 47542783 [A/G] NM_002517 NPAS1 EXON Missense_R308H exm1483981 19 47546120 [A/G] NM_002517 NPAS1 EXON Missense_V424M exm-rs3810291 19 47569003 [A/G] NM_015168 ZC3H4 EXON Silent exm1484049 19 47569867 [A/G] NM_015168 ZC3H4 EXON Missense_R1220W exm1484051 19 47569894 [A/G] NM_015168 ZC3H4 EXON Missense_P1211S exm1943811 19 47572592 [T/C] NM_015168 ZC3H4 EXON Missense_G719R exm2268235 19 47573527 [A/G] NM_015168 ZC3H4 Silent exm1484205 19 47588339 [T/C] NM_015168 ZC3H4 EXON Missense_E361K exm2229637 19 47589641 [A/G] NM_015168 ZC3H4 EXON Synonymous_D290D exm1484217 19 47589655 [C/G] NM_015168 ZC3H4 EXON Missense_E286Q exm1484219 19 47589733 [T/C] NM_015168 ZC3H4 EXON Missense_G260S exm-rs2303108 19 47589895 [T/C] NM_015168 ZC3H4 Silent exm-rs10408163 19 47597102 [T/C] NM_015168 ZC3H4 Silent exm1484254 19 47615835 [T/C] NM_015168 ZC3H4 EXON Missense_A3T exm2253917 19 47653623 [A/G] NM_001145713,NM_005500,NM_001145714,NR_027280 SAE1,SAE1,SAE1,SAE1 EXON Synonymous_Q125Q,Synonymous_Q125Q,Synonymous_Q125Q,Silent exm1484280 19 47658420 [A/G] NM_001145713,NM_005500,NM_001145714,NR_027280 SAE1,SAE1,SAE1,SAE1 EXON Missense_D193N,Missense_D193N,Missense_D193N,Silent exm1484288 19 47673128 [G/C] NM_001145713,NM_005500,NM_001145714,NR_027280 SAE1,SAE1,SAE1,SAE1 EXON Missense_E227D,Missense_E227D,Missense_E227D,Silent exm1484289 19 47673130 [A/G] NM_001145713,NM_005500,NM_001145714,NR_027280 SAE1,SAE1,SAE1,SAE1 EXON Missense_K228R,Missense_K228R,Missense_K228R,Silent exm1484298 19 47700572 [A/G] NM_001145713,NM_005500,NM_001145714,NR_027280 SAE1,SAE1,SAE1,SAE1 EXON Silent,Missense_I272M,Silent,Silent exm1484304 19 47700619 [G/C] NM_001145713,NM_005500,NM_001145714,NR_027280 SAE1,SAE1,SAE1,SAE1 EXON Silent,Missense_P288R,Silent,Silent exm1484309 19 47712438 [T/C] NM_001145713,NM_005500,NM_001145714,NR_027280 SAE1,SAE1,SAE1,SAE1 EXON Synonymous_S252S,Missense_P324L,Silent,Silent exm1484311 19 47712509 [A/T] NM_001145713,NM_005500,NM_001145714,NR_027280 SAE1,SAE1,SAE1,SAE1 EXON Missense_N276I,Silent,Silent,Silent exm1484329 19 47735796 [T/A] NM_001127242,NM_001127241,NM_001127240 BBC3,BBC3,BBC3 EXON Missense_T22S,Missense_T22S,Missense_T22S exm1484331 19 47735846 [A/G] NM_001127242,NM_001127241,NM_001127240 BBC3,BBC3,BBC3 EXON Missense_M5T,Missense_M5T,Missense_M5T exm1484360 19 47764049 [T/C] NM_015603 CCDC9 EXON Missense_H139Y exm1484368 19 47768058 [A/G] NM_015603 CCDC9 EXON Missense_R192Q exm1484370 19 47768090 [A/G] NM_015603 CCDC9 EXON Missense_G203R exm1484380 19 47768171 [T/C] NM_015603 CCDC9 EXON Missense_R230W exm1484382 19 47768204 [A/G] NM_015603 CCDC9 Silent exm1484415 19 47773930 [T/C] NM_015603 CCDC9 EXON Missense_A357V exm1484419 19 47774344 [A/G] NM_015603 CCDC9 EXON Missense_H364R exm1484434 19 47774668 [T/G] NM_015603 CCDC9 EXON Missense_E443D exm1484439 19 47774706 [T/C] NM_015603 CCDC9 EXON Missense_A456V exm1484449 19 47774816 [T/C] NM_015603 CCDC9 EXON Missense_P493S exm1484478 19 47823038 [A/G] NM_001736 C5AR1 Silent exm1484481 19 47823114 [A/G] NM_001736 C5AR1 EXON Missense_I27V exm1484486 19 47823135 [A/G] NM_001736 C5AR1 EXON Missense_V34M exm1484498 19 47823349 [T/C] NM_001736 C5AR1 EXON Missense_A105V exm1484504 19 47823469 [T/G] NM_001736 C5AR1 EXON Missense_R145I exm1484508 19 47823525 [A/C] NM_001736 C5AR1 EXON Missense_P164T exm1484513 19 47823593 [T/G] NM_001736 C5AR1 EXON Missense_C186W exm1484515 19 47823616 [T/C] NM_001736 C5AR1 EXON Missense_T194M exm1484517 19 47823637 [T/C] NM_001736 C5AR1 EXON Missense_P201L exm1484520 19 47823685 [A/G] NM_001736 C5AR1 EXON Missense_R217H exm1484524 19 47823715 [A/C] NM_001736 C5AR1 EXON Missense_S227Y exm1484541 19 47823871 [T/G] NM_001736 C5AR1 EXON Missense_R279I exm1484544 19 47823934 [T/C] NM_001736 C5AR1 EXON Missense_T300M exm1484553 19 47824015 [T/C] NM_001736 C5AR1 EXON Missense_P327L exm1484576 19 47844258 [T/G] NM_001271749,NM_018485,NM_001271750 C5AR2,C5AR2,C5AR2 EXON Missense_V68L,Missense_V68L,Missense_V68L exm1484594 19 47844495 [T/C] NM_001271749,NM_018485,NM_001271750 C5AR2,C5AR2,C5AR2 EXON Missense_R147W,Missense_R147W,Missense_R147W exm1484595 19 47844499 [T/C] NM_001271749,NM_018485,NM_001271750 C5AR2,C5AR2,C5AR2 EXON Missense_A148V,Missense_A148V,Missense_A148V exm1484596 19 47844502 [C/G] NM_001271749,NM_018485,NM_001271750 C5AR2,C5AR2,C5AR2 EXON Missense_C149S,Missense_C149S,Missense_C149S exm1484599 19 47844568 [T/C] NM_001271749,NM_018485,NM_001271750 C5AR2,C5AR2,C5AR2 EXON Missense_I171T,Missense_I171T,Missense_I171T exm1484610 19 47844667 [A/G] NM_001271749,NM_018485,NM_001271750 C5AR2,C5AR2,C5AR2 EXON Missense_R204Q,Missense_R204Q,Missense_R204Q exm1484616 19 47844754 [T/C] NM_001271749,NM_018485,NM_001271750 C5AR2,C5AR2,C5AR2 EXON Missense_P233L,Missense_P233L,Missense_P233L exm1484625 19 47844919 [T/C] NM_001271749,NM_018485,NM_001271750 C5AR2,C5AR2,C5AR2 EXON Missense_P288L,Missense_P288L,Missense_P288L exm1943928 19 47844955 [A/G] NM_001271749,NM_018485,NM_001271750 C5AR2,C5AR2,C5AR2 EXON Missense_R300H,Missense_R300H,Missense_R300H exm2275350 19 47856324 [T/C] NM_014681 DHX34 EXON Nonsense_R13X exm1484639 19 47856336 [T/C] NM_014681 DHX34 EXON Missense_R17W exm1484646 19 47856543 [T/C] NM_014681 DHX34 EXON Missense_P86S exm1484655 19 47856637 [A/G] NM_014681 DHX34 EXON Missense_G117D exm1484657 19 47856667 [T/C] NM_014681 DHX34 EXON Missense_A127V exm1484663 19 47856763 [A/G] NM_014681 DHX34 EXON Missense_R159Q exm1484665 19 47856795 [T/C] NM_014681 DHX34 EXON Missense_R170C exm1484676 19 47858343 [T/G] NM_014681 DHX34 EXON Missense_K251N exm1484685 19 47858447 [T/C] NM_014681 DHX34 EXON Missense_L286P exm1484693 19 47858494 [T/C] NM_014681 DHX34 EXON Missense_R302W exm1484699 19 47858540 [T/C] NM_014681 DHX34 EXON Missense_S317L exm1484706 19 47858606 [T/C] NM_014681 DHX34 EXON Missense_T339M exm1484707 19 47861145 [T/C] NM_014681 DHX34 EXON Missense_A347V exm1484712 19 47861285 [A/G] NM_014681 DHX34 EXON Missense_V394M exm1484717 19 47861351 [A/G] NM_014681 DHX34 EXON Missense_A416T exm1484730 19 47865819 [T/C] NM_014681 DHX34 EXON Missense_R488W exm1943958 19 47865889 [A/C] NM_014681 DHX34 EXON Missense_A511D exm1484736 19 47865897 [T/C] NM_014681 DHX34 EXON Missense_P514S exm1484768 19 47876902 [A/G] NM_014681 DHX34 EXON Missense_R670Q exm1484808 19 47879322 [A/G] NM_014681 DHX34 EXON Missense_A817T exm1484820 19 47879766 [A/G] NM_014681 DHX34 EXON Missense_E850K exm1943998 19 47880401 [T/G] NM_014681 DHX34 EXON Missense_V882L exm1484844 19 47883016 [A/G] NM_014681 DHX34 EXON Missense_R919H exm1484852 19 47883105 [T/C] NM_014681 DHX34 EXON Missense_R949C exm1484860 19 47883232 [T/C] NM_014681 DHX34 EXON Missense_T991M exm1484862 19 47884089 [A/G] NM_014681 DHX34 EXON Missense_R1000Q exm1944022 19 47909743 [A/C] NM_020160,NM_001009813 MEIS3,MEIS3 EXON Missense_H419Q,Missense_H356Q exm1484940 19 47912480 [A/G] NM_020160,NM_001009813 MEIS3,MEIS3 EXON Missense_A245V,Missense_A228V exm1484944 19 47912713 [T/C] NM_020160,NM_001009813 MEIS3,MEIS3 EXON Missense_G230E,Missense_G213E exm1484949 19 47918030 [T/C] NM_020160,NM_001009813 MEIS3,MEIS3 EXON Missense_G181S,Missense_G164S exm1484963 19 47919955 [A/C] NM_020160,NM_001009813 MEIS3,MEIS3 EXON Missense_R117L,Missense_R117L exm1484968 19 47920087 [T/C] NM_020160,NM_001009813 MEIS3,MEIS3 EXON Missense_E107K,Missense_E107K exm1484986 19 47920565 [T/C] NM_020160,NM_001009813 MEIS3,MEIS3 EXON Missense_A19T,Missense_A19T exm1484987 19 47920571 [T/C] NM_020160,NM_001009813 MEIS3,MEIS3 EXON Missense_G17S,Missense_G17S exm1484989 19 47920594 [A/G] NM_020160,NM_001009813 MEIS3,MEIS3 EXON Missense_P9L,Missense_P9L exm2253919 19 47941127 [A/G] NM_015063 SLC8A2 EXON Synonymous_I663I exm1485099 19 47978735 [A/G] NM_007059 KPTN EXON Missense_R417C exm1485102 19 47979803 [T/C] NM_007059 KPTN EXON Missense_V390M exm1485110 19 47979971 [T/C] NM_007059 KPTN EXON Missense_E334K exm1485119 19 47981020 [A/G] NM_007059 KPTN EXON Missense_L269P exm1485131 19 47983633 [C/G] NM_007059 KPTN EXON Missense_G211R exm1485142 19 47984288 [A/G] NM_007059 KPTN EXON Missense_V151A exm1485172 19 47991589 [A/G] NR_038452,NR_038456,NM_003827,NR_038457 NAPA-AS1,NAPA,NAPA,NAPA EXON Silent,Silent,Missense_R282C,Silent exm1485185 19 47995358 [T/C] NR_038452,NR_038456,NM_003827,NR_038457 NAPA-AS1,NAPA,NAPA,NAPA EXON Silent,Silent,Missense_D194N,Silent exm1485215 19 48018112 [A/G] NR_038456,NM_003827,NR_038457 NAPA,NAPA,NAPA EXON Silent,Missense_S29F,Silent exm1485216 19 48018116 [A/G] NR_038456,NM_003827,NR_038457 NAPA,NAPA,NAPA EXON Silent,Missense_F28L,Silent exm1485218 19 48018173 [T/C] NR_038456,NM_003827,NR_038457 NAPA,NAPA,NAPA EXON Silent,Missense_E9K,Silent exm1485237 19 48032906 [T/C] NM_001101419 ZNF541 EXON Missense_A1156T exm2253921 19 48041613 [T/C] NM_001101419 ZNF541 EXON Synonymous_T979T exm1485265 19 48047415 [T/C] NM_001101419 ZNF541 EXON Missense_K791E exm1485284 19 48048515 [T/C] NM_001101419 ZNF541 EXON Missense_K424R exm1485288 19 48048900 [A/C] NM_001101419 ZNF541 EXON Missense_G296W exm1485293 19 48049175 [G/C] NM_001101419 ZNF541 EXON Missense_S204T exm2253922 19 48182946 [T/C] NM_015711 GLTSCR1 EXON Synonymous_P173P exm-rs1035938 19 48183771 [T/C] NM_015711 GLTSCR1 EXON Synonymous_S448S exm1485349 19 48183865 [A/G] NM_015711 GLTSCR1 EXON Missense_V480I exm1485371 19 48184474 [T/C] NM_015711 GLTSCR1 EXON Missense_P683S exm1485397 19 48197769 [T/C] NM_015711 GLTSCR1 EXON Missense_T894M exm1485424 19 48198675 [A/G] NM_015711 GLTSCR1 EXON Missense_T1044A exm1485430 19 48201967 [A/G] NM_015711 GLTSCR1 EXON Missense_D1109N exm2272797 19 48215633 [T/C] exm1485491 19 48219946 [A/G] NM_014601 EHD2 EXON Missense_K26R exm1944214 19 48220194 [A/G] NM_014601 EHD2 EXON Missense_V109M exm1485546 19 48239695 [A/C] NM_014601 EHD2 EXON Missense_K329Q exm1485547 19 48239716 [T/C] NM_014601 EHD2 EXON Missense_P336S exm1485548 19 48239752 [A/G] NM_014601 EHD2 EXON Missense_I348V exm1485558 19 48244273 [A/G] NM_014601 EHD2 EXON Missense_E406K exm1485570 19 48244447 [A/G] NM_014601 EHD2 EXON Missense_D464N exm1485595 19 48248864 [A/C] NM_015710 GLTSCR2 EXON Missense_S16R exm1485611 19 48250243 [G/C] NM_015710 GLTSCR2 EXON Missense_P82A exm2253923 19 48250275 [T/C] NM_015710 GLTSCR2 EXON Synonymous_G92G exm1485641 19 48254792 [G/C] NM_015710 GLTSCR2 EXON Missense_P205R exm1485647 19 48255770 [A/G] NM_015710 GLTSCR2 EXON Missense_R224Q exm1485648 19 48255772 [T/C] NM_015710 GLTSCR2 EXON Missense_P225S exm1485653 19 48255821 [T/C] NM_015710 GLTSCR2 EXON Missense_A241V exm1485684 19 48258753 [A/C] NM_015710 GLTSCR2 EXON Missense_D401A exm1485691 19 48259063 [T/C] NM_015710 GLTSCR2 EXON Missense_S427L exm1944265 19 48259797 [A/G] NM_015710 GLTSCR2 EXON Missense_I437V exm1485744 19 48305050 [A/C] NM_198479 TPRX1 EXON Missense_R406S exm1485745 19 48305076 [T/C] NM_198479 TPRX1 EXON Missense_V398M exm2275090 19 48305214 [A/G] NM_198479 TPRX1 EXON Missense_H352Y exm1485759 19 48305340 [A/G] NM_198479 TPRX1 EXON Missense_S310P exm1485847 19 48337722 [C/G] NM_000554 CRX EXON Missense_G8R exm1485848 19 48337728 [G/C] NM_000554 CRX EXON Missense_H10D exm1485852 19 48339501 [T/C] NM_000554 CRX EXON Synonymous_S34S exm1485856 19 48339602 [T/C] NM_000554 CRX EXON Missense_A68V exm1485872 19 48342749 [A/G] NM_000554 CRX EXON Missense_Y142C exm1485901 19 48374734 [T/C] NM_003167 SULT2A1 EXON Missense_R279Q exm2275093 19 48377926 [A/G] NM_003167 SULT2A1 EXON Missense_L245F exm1485904 19 48377980 [T/C] NM_003167 SULT2A1 EXON Missense_K227E exm1485924 19 48386992 [G/C] NM_003167 SULT2A1 EXON Missense_A63P exm2253925 19 48389425 [A/G] NM_003167 SULT2A1 EXON Synonymous_F30F exm1485932 19 48389425 [A/G] NM_003167 SULT2A1 EXON Synonymous_F30F exm1485944 19 48495304 [A/G] NM_001128326 BSPH1 EXON Missense_T12M exm1485946 19 48495314 [T/C] NM_001128326 BSPH1 EXON Missense_V9M exm1485948 19 48495338 [T/C] NM_001128326 BSPH1 EXON Missense_M1V exm1485950 19 48511909 [A/G] NM_022142 ELSPBP1 EXON Silent exm1485962 19 48519182 [T/C] NM_022142 ELSPBP1 EXON Nonsense_R81X exm2229674 19 48519183 [A/G] NM_022142 ELSPBP1 EXON Missense_R81Q exm1485964 19 48519241 [G/C] NM_022142 ELSPBP1 EXON Missense_C100W exm1944355 19 48523018 [C/G] NM_022142 ELSPBP1 EXON Missense_S133C exm1485978 19 48523118 [T/A] NM_022142 ELSPBP1 EXON Missense_S166R exm1485979 19 48523128 [A/G] NM_022142 ELSPBP1 EXON Missense_D170N exm1485991 19 48525507 [A/G] NM_022142 ELSPBP1 EXON Missense_E199K exm1485994 19 48525555 [A/G] NM_022142 ELSPBP1 EXON Missense_D215N exm1486011 19 48537513 [T/C] NM_019855 CABP5 EXON Missense_R152Q exm1486013 19 48537528 [A/C] NM_019855 CABP5 EXON Missense_I147S exm1486016 19 48537537 [G/C] NM_019855 CABP5 EXON Missense_P144R exm1486025 19 48542465 [A/C] NM_019855 CABP5 EXON Missense_E116D exm1486031 19 48543862 [A/G] NM_019855 CABP5 EXON Synonymous_L80L exm1486033 19 48543883 [T/C] NM_019855 CABP5 EXON Missense_G73S exm1486034 19 48543906 [G/C] NM_019855 CABP5 EXON Missense_T65R exm1486041 19 48544000 [A/G] NM_019855 CABP5 EXON Missense_R34W exm1486050 19 48547118 [T/C] NM_019855 CABP5 EXON Missense_R21Q exm1486055 19 48551619 [T/C] NM_001159323,NM_001159322,NM_003706 PLA2G4C,PLA2G4C,PLA2G4C EXON Silent,Missense_R546Q,Missense_R536Q exm1486056 19 48551620 [A/G] NM_001159323,NM_001159322,NM_003706 PLA2G4C,PLA2G4C,PLA2G4C EXON Silent,Nonsense_R546X,Nonsense_R536X exm1486058 19 48551640 [T/A] NM_001159323,NM_001159322,NM_003706 PLA2G4C,PLA2G4C,PLA2G4C EXON Silent,Missense_Y539F,Missense_Y529F exm1486071 19 48558278 [T/C] NM_001159323,NM_001159322,NM_003706 PLA2G4C,PLA2G4C,PLA2G4C EXON Missense_R429H,Missense_R439H,Missense_R429H exm1486082 19 48565323 [T/C] NM_001159323,NM_001159322,NM_003706 PLA2G4C,PLA2G4C,PLA2G4C EXON Missense_V397M,Missense_V407M,Missense_V397M exm1486083 19 48565352 [C/G] NM_001159323,NM_001159322,NM_003706 PLA2G4C,PLA2G4C,PLA2G4C EXON Missense_G387A,Missense_G397A,Missense_G387A exm1486088 19 48571071 [A/G] NM_001159323,NM_001159322,NM_003706 PLA2G4C,PLA2G4C,PLA2G4C EXON Missense_T360I,Missense_T370I,Missense_T360I exm1486105 19 48593639 [T/G] NM_001159323,NM_001159322,NM_003706 PLA2G4C,PLA2G4C,PLA2G4C EXON Missense_I249L,Missense_I259L,Missense_I249L exm1486113 19 48598832 [T/C] NM_001159323,NM_001159322,NM_003706 PLA2G4C,PLA2G4C,PLA2G4C EXON Missense_A200T,Missense_A210T,Missense_A200T exm1486114 19 48598837 [T/C] NM_001159323,NM_001159322,NM_003706 PLA2G4C,PLA2G4C,PLA2G4C EXON Missense_H198R,Missense_H208R,Missense_H198R exm1486125 19 48601483 [G/C] NM_001159323,NM_001159322,NM_003706 PLA2G4C,PLA2G4C,PLA2G4C EXON Missense_P161A,Missense_P171A,Missense_P161A exm1486128 19 48601512 [A/G] NM_001159323,NM_001159322,NM_003706 PLA2G4C,PLA2G4C,PLA2G4C EXON Missense_P151L,Missense_P161L,Missense_P151L exm2277173 19 48602947 [A/G] NM_001159323,NM_001159322,NM_003706 PLA2G4C,PLA2G4C,PLA2G4C EXON Missense_I143T,Missense_I153T,Missense_I143T exm1486132 19 48602948 [T/C] NM_001159323,NM_001159322,NM_003706 PLA2G4C,PLA2G4C,PLA2G4C EXON Missense_I143V,Missense_I153V,Missense_I143V exm1486133 19 48602951 [A/C] NM_001159323,NM_001159322,NM_003706 PLA2G4C,PLA2G4C,PLA2G4C EXON Missense_V142F,Missense_V152F,Missense_V142F exm1486139 19 48602995 [A/G] NM_001159323,NM_001159322,NM_003706 PLA2G4C,PLA2G4C,PLA2G4C EXON Missense_A127V,Missense_A137V,Missense_A127V exm1486142 19 48603043 [T/C] NM_001159323,NM_001159322,NM_003706 PLA2G4C,PLA2G4C,PLA2G4C EXON Missense_R111Q,Missense_R121Q,Missense_R111Q exm1486143 19 48603044 [A/G] NM_001159323,NM_001159322,NM_003706 PLA2G4C,PLA2G4C,PLA2G4C EXON Nonsense_R111X,Nonsense_R121X,Nonsense_R111X exm1486145 19 48603085 [A/T] NM_001159323,NM_001159322,NM_003706 PLA2G4C,PLA2G4C,PLA2G4C EXON Missense_D97V,Missense_D107V,Missense_D97V exm1486149 19 48607867 [T/C] NM_001159323,NM_001159322,NM_003706 PLA2G4C,PLA2G4C,PLA2G4C EXON Missense_A79T,Missense_A89T,Missense_A79T exm1486151 19 48607879 [T/C] NM_001159323,NM_001159322,NM_003706 PLA2G4C,PLA2G4C,PLA2G4C EXON Missense_V75I,Missense_V85I,Missense_V75I exm1486155 19 48607918 [A/C] NM_001159323,NM_001159322,NM_003706 PLA2G4C,PLA2G4C,PLA2G4C EXON Missense_V62F,Missense_V72F,Missense_V62F exm1486163 19 48608649 [T/C] NM_001159323,NM_001159322,NM_003706 PLA2G4C,PLA2G4C,PLA2G4C EXON Missense_E21K,Missense_E31K,Missense_E21K exm1486165 19 48609784 [A/C] NM_001159323,NM_001159322,NM_003706 PLA2G4C,PLA2G4C,PLA2G4C EXON Missense_M1I,Missense_G22W,Missense_M1I exm1486168 19 48609818 [T/C] NM_001159323,NM_001159322,NM_003706 PLA2G4C,PLA2G4C,PLA2G4C EXON Silent,Synonymous_R10R,Silent exm1486176 19 48618941 [T/C] NM_000234 LIG1 EXON Missense_E909K exm1486181 19 48619154 [T/C] NM_000234 LIG1 EXON Synonymous_P884P exm2253927 19 48619154 [T/C] NM_000234 LIG1 EXON Synonymous_P884P exm1486185 19 48620943 [A/C] NM_000234 LIG1 EXON Missense_K845N exm2268236 19 48622545 [A/G] NM_000234 LIG1 Silent exm1486210 19 48624555 [T/C] NM_000234 LIG1 EXON Missense_V753M exm1486228 19 48626566 [A/G] NM_000234 LIG1 EXON Missense_R672C exm1486238 19 48631258 [A/G] NM_000234 LIG1 EXON Missense_T614I exm1486249 19 48637277 [T/C] NM_000234 LIG1 EXON Missense_G524S exm2229682 19 48637292 [A/C] NM_000234 LIG1 EXON Missense_V519L exm1486258 19 48639022 [T/C] NM_000234 LIG1 EXON Missense_M480V exm1944476 19 48639372 [T/C] NM_000234 LIG1 EXON Missense_G448R exm1486269 19 48640325 [A/G] NM_000234 LIG1 EXON Missense_I424T exm1486273 19 48640807 [T/C] NM_000234 LIG1 EXON Missense_R409H exm1486274 19 48640808 [A/G] NM_000234 LIG1 EXON Missense_R409C exm1486282 19 48640928 [T/C] NM_000234 LIG1 EXON Missense_V369I exm1486285 19 48643270 [T/C] NM_000234 LIG1 EXON Missense_V349M exm1486288 19 48643312 [A/G] NM_000234 LIG1 EXON Missense_L335F exm1486301 19 48647197 [T/C] NM_000234 LIG1 EXON Missense_N267S exm2229684 19 48653027 [G/C] NM_000234 LIG1 EXON Missense_A257P exm2229685 19 48653050 [T/C] NM_000234 LIG1 EXON Missense_G249E exm2229686 19 48653093 [A/G] NM_000234 LIG1 EXON Missense_R235W exm2275094 19 48664717 [A/G] NM_000234 LIG1 EXON Missense_P52L exm1944510 19 48664718 [T/G] NM_000234 LIG1 EXON Missense_P52T exm1486343 19 48664732 [A/G] NM_000234 LIG1 EXON Missense_S47F exm1486350 19 48665556 [T/C] NM_000234 LIG1 EXON Missense_A24T exm1486365 19 48715032 [C/G] NM_001184903,NM_001184901,NR_033678,NM_001184900,NR_033679,NR_033680,NM_014959,NM_001184902 CARD8,CARD8,CARD8,CARD8,CARD8,CARD8,CARD8,CARD8 EXON Silent,Missense_L467V,Silent,Missense_L517V,Silent,Silent,Missense_L467V,Silent exm1486367 19 48715097 [T/C] NM_001184903,NM_001184901,NR_033678,NM_001184900,NR_033679,NR_033680,NM_014959,NM_001184902 CARD8,CARD8,CARD8,CARD8,CARD8,CARD8,CARD8,CARD8 EXON Silent,Missense_R445Q,Silent,Missense_R495Q,Silent,Silent,Missense_R445Q,Silent exm1486375 19 48715206 [A/G] NM_001184903,NM_001184901,NR_033678,NM_001184900,NR_033679,NR_033680,NM_014959,NM_001184902 CARD8,CARD8,CARD8,CARD8,CARD8,CARD8,CARD8,CARD8 EXON Silent,Missense_R409W,Silent,Missense_R459W,Silent,Silent,Missense_R409W,Silent exm1486389 19 48722267 [C/G] NM_001184903,NM_001184901,NR_033678,NM_001184900,NR_033679,NR_033680,NM_014959,NM_001184902 CARD8,CARD8,CARD8,CARD8,CARD8,CARD8,CARD8,CARD8 EXON Silent,Missense_E338D,Silent,Missense_E388D,Silent,Silent,Missense_E338D,Silent exm2229688 19 48733712 [T/C] NM_001184903,NM_001184901,NR_033678,NM_001184900,NR_033679,NR_033680,NM_014959,NM_001184902 CARD8,CARD8,CARD8,CARD8,CARD8,CARD8,CARD8,CARD8 EXON Missense_D340N,Missense_D290N,Silent,Missense_D340N,Silent,Silent,Missense_D290N,Missense_D340N exm1486406 19 48733756 [G/C] NM_001184903,NM_001184901,NR_033678,NM_001184900,NR_033679,NR_033680,NM_014959,NM_001184902 CARD8,CARD8,CARD8,CARD8,CARD8,CARD8,CARD8,CARD8 EXON Missense_P325R,Missense_P275R,Silent,Missense_P325R,Silent,Silent,Missense_P275R,Missense_P325R exm1486407 19 48733757 [T/G] NM_001184903,NM_001184901,NR_033678,NM_001184900,NR_033679,NR_033680,NM_014959,NM_001184902 CARD8,CARD8,CARD8,CARD8,CARD8,CARD8,CARD8,CARD8 EXON Missense_P325T,Missense_P275T,Silent,Missense_P325T,Silent,Silent,Missense_P275T,Missense_P325T exm1486411 19 48733814 [T/C] NM_001184903,NM_001184901,NR_033678,NM_001184900,NR_033679,NR_033680,NM_014959,NM_001184902 CARD8,CARD8,CARD8,CARD8,CARD8,CARD8,CARD8,CARD8 EXON Missense_A306T,Missense_A256T,Silent,Missense_A306T,Silent,Silent,Missense_A256T,Missense_A306T exm1486418 19 48733892 [A/G] NM_001184903,NM_001184901,NR_033678,NM_001184900,NR_033679,NR_033680,NM_014959,NM_001184902 CARD8,CARD8,CARD8,CARD8,CARD8,CARD8,CARD8,CARD8 EXON Missense_H280Y,Missense_H230Y,Silent,Missense_H280Y,Silent,Silent,Missense_H230Y,Missense_H280Y exm1486421 19 48733928 [T/C] NM_001184903,NM_001184901,NR_033678,NM_001184900,NR_033679,NR_033680,NM_014959,NM_001184902 CARD8,CARD8,CARD8,CARD8,CARD8,CARD8,CARD8,CARD8 EXON Missense_V268I,Missense_V218I,Silent,Missense_V268I,Silent,Silent,Missense_V218I,Missense_V268I exm1486432 19 48734117 [A/C] NM_001184903,NM_001184901,NR_033678,NM_001184900,NR_033679,NR_033680,NM_014959,NM_001184902 CARD8,CARD8,CARD8,CARD8,CARD8,CARD8,CARD8,CARD8 EXON Missense_V230G,Missense_V180G,Silent,Missense_V230G,Silent,Silent,Missense_V180G,Missense_V230G exm1486436 19 48734183 [A/G] NM_001184903,NM_001184901,NR_033678,NM_001184900,NR_033679,NR_033680,NM_014959,NM_001184902 CARD8,CARD8,CARD8,CARD8,CARD8,CARD8,CARD8,CARD8 EXON Missense_T208M,Missense_T158M,Silent,Missense_T208M,Silent,Silent,Missense_T158M,Missense_T208M exm1486437 19 48734195 [T/G] NM_001184903,NM_001184901,NR_033678,NM_001184900,NR_033679,NR_033680,NM_014959,NM_001184902 CARD8,CARD8,CARD8,CARD8,CARD8,CARD8,CARD8,CARD8 EXON Missense_E204A,Missense_E154A,Silent,Missense_E204A,Silent,Silent,Missense_E154A,Missense_E204A exm1486439 19 48734214 [T/C] NM_001184903,NM_001184901,NR_033678,NM_001184900,NR_033679,NR_033680,NM_014959,NM_001184902 CARD8,CARD8,CARD8,CARD8,CARD8,CARD8,CARD8,CARD8 EXON Missense_G198S,Missense_G148S,Silent,Missense_G198S,Silent,Silent,Missense_G148S,Missense_G198S exm1486441 19 48734262 [A/C] NM_001184903,NM_001184901,NR_033678,NM_001184900,NR_033679,NR_033680,NM_014959,NM_001184902 CARD8,CARD8,CARD8,CARD8,CARD8,CARD8,CARD8,CARD8 EXON Missense_V182F,Missense_V132F,Silent,Missense_V182F,Silent,Silent,Missense_V132F,Missense_V182F exm1486444 19 48734942 [T/C] NM_001184903,NM_001184901,NR_033678,NM_001184900,NR_033679,NR_033680,NM_014959,NM_001184902 CARD8,CARD8,CARD8,CARD8,CARD8,CARD8,CARD8,CARD8 EXON Missense_I173V,Missense_I123V,Silent,Missense_I173V,Silent,Silent,Missense_I123V,Missense_I173V exm-IND19-53426829 19 48735018 [I/D] NM_001184903,NM_001184901,NR_033678,NM_001184900,NR_033679,NR_033680,NM_014959,NM_001184902 CARD8,CARD8,CARD8,CARD8,CARD8,CARD8,CARD8,CARD8 EXON exm1486455 19 48737706 [A/T] NM_001184903,NM_001184901,NR_033678,NM_001184900,NR_033679,NR_033680,NM_014959,NM_001184902 CARD8,CARD8,CARD8,CARD8,CARD8,CARD8,CARD8,CARD8 EXON Missense_F102I,Missense_F52I,Silent,Missense_F102I,Silent,Silent,Missense_F52I,Missense_F102I exm1486460 19 48737800 [T/C] NM_001184903,NM_001184901,NR_033678,NM_001184900,NR_033679,NR_033680,NM_014959,NM_001184902 CARD8,CARD8,CARD8,CARD8,CARD8,CARD8,CARD8,CARD8 EXON Synonymous_T70T,Synonymous_R20R,Silent,Synonymous_T70T,Silent,Silent,Synonymous_R20R,Synonymous_T70T exm1486463 19 48741734 [A/G] NM_001184903,NM_001184901,NR_033678,NM_001184900,NR_033679,NR_033680,NM_014959,NM_001184902,NM_001184904 CARD8,CARD8,CARD8,CARD8,CARD8,CARD8,CARD8,CARD8,CARD8 EXON Missense_S39P,Silent,Silent,Missense_S39P,Silent,Silent,Silent,Missense_S39P,Missense_S39P exm1486483 19 48789224 [A/G] NM_153608 ZNF114 EXON Missense_K115E exm1486498 19 48789501 [T/C] NM_153608 ZNF114 EXON Missense_V207A exm1486501 19 48789533 [T/G] NM_153608 ZNF114 EXON Missense_A218S exm1486504 19 48789579 [A/G] NM_153608 ZNF114 EXON Missense_D233G exm1486509 19 48789612 [A/G] NM_153608 ZNF114 EXON Missense_R244Q exm1486510 19 48789663 [G/C] NM_153608 ZNF114 EXON Nonsense_S261X exm1486522 19 48789918 [A/G] NM_153608 ZNF114 EXON Missense_H346R exm2253928 19 48789982 [A/G] NM_153608 ZNF114 EXON Synonymous_G367G exm1486534 19 48790133 [T/G] NM_153608 ZNF114 EXON Missense_X418G exm1486543 19 48800301 [T/C] NM_144577 CCDC114 EXON Missense_V649I exm2268202 19 48800338 [A/G] NM_144577 CCDC114 EXON Synonymous_S636S exm1486548 19 48800352 [T/C] NM_144577 CCDC114 EXON Missense_G632R exm1486565 19 48800535 [A/G] NM_144577 CCDC114 EXON Missense_H571Y exm1486566 19 48800558 [G/C] NM_144577 CCDC114 EXON Missense_G563A exm1486567 19 48800561 [A/G] NM_144577 CCDC114 EXON Missense_F562S exm1486585 19 48800751 [A/C] NM_144577 CCDC114 EXON Missense_A499S exm1486589 19 48800885 [T/C] NM_144577 CCDC114 EXON Missense_M478V exm1486596 19 48801278 [A/G] NM_144577 CCDC114 EXON Missense_P457L exm1486605 19 48801478 [A/G] NM_144577 CCDC114 EXON Missense_R417W exm1486607 19 48801514 [A/G] NM_144577 CCDC114 EXON Missense_R405W exm1486608 19 48801525 [T/C] NM_144577 CCDC114 EXON Missense_S401N exm1486612 19 48805969 [T/G] NM_144577 CCDC114 EXON Missense_L371M exm1486614 19 48805978 [A/G] NM_144577 CCDC114 EXON Missense_R368W exm1486616 19 48806004 [T/C] NM_144577 CCDC114 EXON Missense_R359H exm1486619 19 48806025 [T/C] NM_144577 CCDC114 EXON Missense_K352R exm1486620 19 48806034 [T/C] NM_144577 CCDC114 EXON Missense_R349H exm1486621 19 48806094 [T/C] NM_144577 CCDC114 EXON Missense_R329H exm1486623 19 48806270 [T/C] NM_144577 CCDC114 EXON Synonymous_E320E exm1486625 19 48806350 [T/C] NM_144577 CCDC114 EXON Missense_E294K exm1486640 19 48807210 [T/C] NM_144577 CCDC114 EXON Missense_A248T exm1486641 19 48807221 [T/C] NM_144577 CCDC114 EXON Missense_R244H exm1486647 19 48807255 [T/C] NM_144577 CCDC114 EXON Missense_D233N exm1486651 19 48807333 [T/C] NM_144577 CCDC114 EXON Missense_E207K exm1486674 19 48821757 [A/G] NM_144577 CCDC114 EXON Missense_R46W exm1486676 19 48821819 [T/C] NM_144577 CCDC114 EXON Missense_R25H exm1486685 19 48830797 [A/G] NM_001425 EMP3 EXON Missense_G33E exm1486691 19 48832701 [T/C] NM_001425 EMP3 EXON Nonsense_R92X exm1486694 19 48833608 [A/G] NM_001425 EMP3 EXON Missense_I125V exm1486699 19 48833720 [A/G] NM_001425 EMP3 EXON Missense_R162Q exm1486727 19 48845855 [T/C] NM_018273 TMEM143 EXON Missense_D303N exm1486735 19 48845948 [A/G] NM_018273 TMEM143 EXON Missense_R272C exm1486736 19 48845989 [A/G] NM_018273 TMEM143 EXON Missense_P258L exm1486740 19 48846037 [A/G] NM_018273 TMEM143 EXON Missense_A242V exm1486742 19 48846060 [C/G] NM_018273 TMEM143 EXON Nonsense_Y234X exm1486745 19 48846606 [A/G] NM_018273 TMEM143 EXON Missense_F223L exm2229694 19 48846608 [A/C] NM_018273 TMEM143 EXON Missense_G222V exm1486749 19 48846654 [A/G] NM_018273 TMEM143 EXON Nonsense_R207X exm1486751 19 48846689 [T/C] NM_018273 TMEM143 EXON Missense_Q195R exm1486755 19 48848478 [A/G] NM_018273 TMEM143 EXON Missense_P168L exm1486757 19 48848506 [T/G] NM_018273 TMEM143 EXON Missense_P159T exm1486761 19 48848554 [T/C] NM_018273 TMEM143 EXON Missense_D143N exm1486762 19 48848556 [A/G] NM_018273 TMEM143 EXON Missense_T142M exm1486768 19 48863337 [A/G] NM_018273 TMEM143 EXON Missense_R121W exm1486770 19 48863385 [A/C] NM_018273 TMEM143 EXON Missense_A105S exm1486774 19 48863424 [T/A] NM_018273 TMEM143 EXON Missense_S92T exm1486785 19 48866787 [A/G] NM_018273 TMEM143 EXON Missense_L9F exm1486792 19 48869139 [A/G] NM_012451 SYNGR4 EXON Missense_E14K exm1486793 19 48869178 [T/C] NM_012451 SYNGR4 EXON Missense_R27W exm1486799 19 48876829 [T/C] NM_012451 SYNGR4 EXON Missense_M50T exm1486803 19 48876888 [A/G] NM_012451 SYNGR4 EXON Missense_V70M exm1486804 19 48876897 [A/G] NM_012451 SYNGR4 EXON Missense_G73S exm1486813 19 48877012 [T/G] NM_012451 SYNGR4 Silent exm1944644 19 48878892 [C/G] NM_012451 SYNGR4 EXON Missense_F118L exm1486820 19 48878933 [T/C] NM_012451 SYNGR4 EXON Missense_P132L exm1486826 19 48878990 [T/C] NM_012451 SYNGR4 EXON Missense_F151S exm1486831 19 48879420 [A/G] NM_012451 SYNGR4 EXON Missense_G184S exm1486849 19 48887649 [T/G] NM_006801 KDELR1 EXON Missense_T148P exm1486867 19 48894609 [T/G] NM_006801 KDELR1 EXON Missense_L3I exm1486995 19 48949678 [A/G] NM_031485 GRWD1 EXON Missense_H75R exm1487007 19 48950041 [T/C] NM_031485 GRWD1 EXON Missense_R137W exm1487008 19 48950068 [A/G] NM_031485 GRWD1 EXON Missense_V146M exm1487009 19 48950075 [A/G] NM_031485 GRWD1 EXON Missense_H148R exm1487011 19 48953603 [G/C] NM_031485 GRWD1 EXON Missense_V168L exm1487012 19 48953604 [T/G] NM_031485 GRWD1 EXON Missense_V168G exm1487016 19 48953685 [T/C] NM_031485 GRWD1 EXON Missense_A195V exm1487018 19 48953694 [A/G] NM_031485 GRWD1 EXON Missense_R198Q exm1487021 19 48953774 [T/C] NM_031485 GRWD1 EXON Missense_R225W exm1487027 19 48953925 [T/C] NM_031485 GRWD1 EXON Missense_R229C exm2276659 19 48953926 [A/G] NM_031485 GRWD1 EXON Missense_R229H exm2229698 19 48954022 [T/C] NM_031485 GRWD1 EXON Missense_T261I exm1487038 19 48954324 [T/C] NM_031485 GRWD1 EXON Missense_R287C exm1487045 19 48954420 [T/C] NM_031485 GRWD1 EXON Missense_R319W exm1487050 19 48955998 [A/G] NM_031485 GRWD1 EXON Missense_V353M exm1487066 19 48965102 [A/G] NM_013348,NM_170720 KCNJ14,KCNJ14 EXON Missense_V41M,Missense_V41M exm1487091 19 48967588 [T/C] NM_013348,NM_170720 KCNJ14,KCNJ14 EXON Missense_R289C,Missense_R289C exm1487100 19 48967720 [C/G] NM_013348,NM_170720 KCNJ14,KCNJ14 EXON Missense_P333A,Missense_P333A exm1487105 19 48967774 [T/C] NM_013348,NM_170720 KCNJ14,KCNJ14 EXON Missense_R351C,Missense_R351C exm1487107 19 48967789 [A/C] NM_013348,NM_170720 KCNJ14,KCNJ14 EXON Missense_P356T,Missense_P356T exm1487110 19 48967810 [C/G] NM_013348,NM_170720 KCNJ14,KCNJ14 EXON Missense_A363P,Missense_A363P exm1487111 19 48967816 [A/G] NM_013348,NM_170720 KCNJ14,KCNJ14 EXON Missense_E365K,Missense_E365K exm1487112 19 48967817 [A/C] NM_013348,NM_170720 KCNJ14,KCNJ14 EXON Missense_E365A,Missense_E365A exm1487114 19 48967828 [T/C] NM_013348,NM_170720 KCNJ14,KCNJ14 EXON Missense_R369W,Missense_R369W exm1487124 19 48967939 [A/G] NM_013348,NM_170720 KCNJ14,KCNJ14 EXON Missense_D406N,Missense_D406N exm1487129 19 48968015 [T/C] NM_013348,NM_170720 KCNJ14,KCNJ14 EXON Missense_A431V,Missense_A431V exm1487194 19 48981849 [A/G] NM_017457,NM_004228 CYTH2,CYTH2 EXON Missense_Q372R,Missense_Q371R exm1487212 19 48994699 [A/G] NM_001080434 LMTK3 EXON Missense_T1426I exm1487260 19 49001456 [T/G] NM_001080434 LMTK3 EXON Missense_K986T exm1487267 19 49001600 [A/G] NM_001080434 LMTK3 EXON Missense_V938A exm1487343 19 49079224 [A/G] NM_177973,NM_004605 SULT2B1,SULT2B1 EXON Missense_R33Q,Missense_R18Q exm1487346 19 49079278 [T/C] NM_177973,NM_004605 SULT2B1,SULT2B1 EXON Missense_L51S,Missense_L36S exm1944842 19 49090527 [A/G] NM_177973,NM_004605 SULT2B1,SULT2B1 EXON Missense_E86K,Missense_E71K exm1487353 19 49090548 [T/C] NM_177973,NM_004605 SULT2B1,SULT2B1 EXON Missense_R93C,Missense_R78C exm1487356 19 49090570 [A/G] NM_177973,NM_004605 SULT2B1,SULT2B1 EXON Missense_R100Q,Missense_R85Q exm2268203 19 49098750 [A/G] NM_177973,NM_004605 SULT2B1,SULT2B1 Silent,Silent exm1487381 19 49100039 [A/G] NM_177973,NM_004605 SULT2B1,SULT2B1 EXON Missense_R230H,Missense_R215H exm2229707 19 49100068 [A/G] NM_177973,NM_004605 SULT2B1,SULT2B1 EXON Missense_V240I,Missense_V225I exm1487387 19 49100152 [T/C] NM_177973,NM_004605 SULT2B1,SULT2B1 EXON Missense_R268C,Missense_R253C exm1487388 19 49100153 [A/G] NM_177973,NM_004605 SULT2B1,SULT2B1 EXON Missense_R268H,Missense_R253H exm1487398 19 49102469 [C/G] NM_177973,NM_004605 SULT2B1,SULT2B1 EXON Missense_R302G,Missense_R287G exm1487399 19 49102477 [A/G] NM_177973,NM_004605 SULT2B1,SULT2B1 EXON Missense_M304I,Missense_M289I exm1487404 19 49102587 [A/G] NM_177973,NM_004605 SULT2B1,SULT2B1 EXON Missense_R341H,Missense_R326H exm1487406 19 49102599 [T/C] NM_177973,NM_004605 SULT2B1,SULT2B1 EXON Missense_P345L,Missense_P330L exm1487416 19 49104466 [T/C] NM_017708 FAM83E EXON Missense_R446Q exm1487432 19 49106827 [A/G] NM_017708 FAM83E EXON Missense_P367L exm1487457 19 49110335 [T/C] NM_017708,NM_133498 FAM83E,SPACA4 EXON Silent,Missense_C34R exm1487463 19 49110435 [A/G] NM_017708,NM_133498 FAM83E,SPACA4 EXON Silent,Missense_R67Q exm1487465 19 49110449 [A/G] NM_017708,NM_133498 FAM83E,SPACA4 EXON Silent,Missense_G72S exm1487473 19 49113161 [T/C] NM_017708 FAM83E EXON Missense_G244S exm1487478 19 49113188 [T/C] NM_017708 FAM83E EXON Missense_V235M exm1487480 19 49113215 [A/G] NM_017708 FAM83E EXON Missense_R226C exm1487483 19 49113244 [T/C] NM_017708 FAM83E EXON Missense_R216H exm1487489 19 49114035 [A/G] NM_017708 FAM83E EXON Missense_R179C exm1487494 19 49116200 [C/G] NM_017708 FAM83E EXON Missense_E144Q exm1487501 19 49116307 [A/G] NM_017708 FAM83E EXON Missense_P108L exm1487504 19 49116346 [A/G] NM_017708 FAM83E EXON Missense_A95V exm1487506 19 49116359 [T/C] NM_017708 FAM83E EXON Missense_T91A exm1487510 19 49116415 [T/C] NM_017708 FAM83E EXON Missense_E72G exm1487518 19 49116502 [A/G] NM_017708 FAM83E EXON Missense_A43V exm1487542 19 49120041 [A/G] NR_073022,NM_001270490,NM_000979 RPL18,RPL18,RPL18 EXON Silent,Missense_A51V,Missense_A80V exm1487554 19 49121108 [T/G] NR_073022,NM_001270490,NM_000979 RPL18,RPL18,RPL18 EXON Silent,Silent,Missense_D10E exm1487560 19 49122433 [A/G] NR_073022,NM_001270490,NM_000979 RPL18,RPL18,RPL18 EXON Silent,Silent,Silent exm1487565 19 49123796 [A/G] NM_001204158,NM_001243876,NM_020126,NM_001204159 SPHK2,SPHK2,SPHK2,SPHK2 EXON Missense_E9K,Silent,Missense_E9K,Missense_E9K exm1487566 19 49123811 [A/G] NM_001204158,NM_001243876,NM_020126,NM_001204159 SPHK2,SPHK2,SPHK2,SPHK2 Silent,Silent,Silent,Silent exm1487570 19 49129169 [A/G] NM_001204158,NM_001243876,NM_020126,NM_001204159,NM_001204160 SPHK2,SPHK2,SPHK2,SPHK2,SPHK2 EXON Silent,Silent,Missense_G21R,Missense_G21R,Silent exm1487581 19 49129334 [A/C] NM_001204158,NM_001243876,NM_020126,NM_001204159,NM_001204160 SPHK2,SPHK2,SPHK2,SPHK2,SPHK2 EXON Missense_I17L,Silent,Missense_I76L,Missense_I76L,Missense_I40L exm1944905 19 49129341 [A/G] NM_001204158,NM_001243876,NM_020126,NM_001204159,NM_001204160 SPHK2,SPHK2,SPHK2,SPHK2,SPHK2 EXON Missense_R19Q,Silent,Missense_R78Q,Missense_R78Q,Missense_R42Q exm1487584 19 49129346 [T/C] NM_001204158,NM_001243876,NM_020126,NM_001204159,NM_001204160 SPHK2,SPHK2,SPHK2,SPHK2,SPHK2 EXON Missense_R21C,Silent,Missense_R80C,Missense_R80C,Missense_R44C exm1487593 19 49129494 [A/G] NM_001204158,NM_001243876,NM_020126,NM_001204159,NM_001204160 SPHK2,SPHK2,SPHK2,SPHK2,SPHK2 EXON Missense_R70H,Silent,Missense_R129H,Missense_R129H,Missense_R93H exm1487594 19 49129506 [A/G] NM_001204158,NM_001243876,NM_020126,NM_001204159,NM_001204160 SPHK2,SPHK2,SPHK2,SPHK2,SPHK2 EXON Missense_R74H,Silent,Missense_R133H,Missense_R133H,Missense_R97H exm1487598 19 49129553 [A/G] NM_001204158,NM_001243876,NM_020126,NM_001204159,NM_001204160 SPHK2,SPHK2,SPHK2,SPHK2,SPHK2 EXON Missense_E90K,Silent,Missense_E149K,Missense_E149K,Missense_E113K exm1487600 19 49129618 [T/G] NM_001204158,NM_001243876,NM_020126,NM_001204159,NM_001204160 SPHK2,SPHK2,SPHK2,SPHK2,SPHK2 EXON Synonymous_G111G,Silent,Synonymous_G170G,Synonymous_G170G,Synonymous_G134G exm1487601 19 49130957 [G/C] NM_001204158,NM_001243876,NM_020126,NM_001204159,NM_001204160 SPHK2,SPHK2,SPHK2,SPHK2,SPHK2 EXON Missense_P115A,Silent,Missense_P174A,Missense_P174A,Missense_P138A exm1944921 19 49132198 [A/C] NM_001204158,NM_001243876,NM_020126,NM_001204159,NM_001204160 SPHK2,SPHK2,SPHK2,SPHK2,SPHK2 EXON Missense_Y319S,Missense_Y172S,Missense_Y378S,Missense_Y378S,Missense_Y342S exm1487670 19 49132655 [C/G] NM_001204158,NM_001243876,NM_020126,NM_001204159,NM_001204160 SPHK2,SPHK2,SPHK2,SPHK2,SPHK2 EXON Missense_D471E,Missense_D324E,Missense_D530E,Missense_D530E,Missense_D494E exm1487672 19 49132713 [A/G] NM_001204158,NM_001243876,NM_020126,NM_001204159,NM_001204160 SPHK2,SPHK2,SPHK2,SPHK2,SPHK2 EXON Missense_G491S,Missense_G344S,Missense_G550S,Missense_G550S,Missense_G514S exm1487674 19 49132776 [T/G] NM_001204158,NM_001243876,NM_020126,NM_001204159,NM_001204160 SPHK2,SPHK2,SPHK2,SPHK2,SPHK2 EXON Missense_V512L,Missense_V365L,Missense_V571L,Missense_V571L,Missense_V535L exm1487675 19 49132826 [A/G] NM_001204158,NM_001243876,NM_020126,NM_001204159,NM_001204160 SPHK2,SPHK2,SPHK2,SPHK2,SPHK2 EXON Missense_M528I,Missense_M381I,Missense_M587I,Missense_M587I,Missense_M551I exm1487676 19 49132834 [T/G] NM_001204158,NM_001243876,NM_020126,NM_001204159,NM_001204160 SPHK2,SPHK2,SPHK2,SPHK2,SPHK2 EXON Missense_G531V,Missense_G384V,Missense_G590V,Missense_G590V,Missense_G554V exm1487678 19 49132867 [G/C] NM_001204158,NM_001243876,NM_020126,NM_001204159,NM_001204160 SPHK2,SPHK2,SPHK2,SPHK2,SPHK2 EXON Missense_G542A,Missense_G395A,Missense_G601A,Missense_G601A,Missense_G565A exm1487683 19 49133020 [A/G] NM_001204158,NM_001243876,NM_020126,NM_001204159,NM_001204160 SPHK2,SPHK2,SPHK2,SPHK2,SPHK2 EXON Missense_R593Q,Missense_R446Q,Missense_R652Q,Missense_R652Q,Missense_R616Q exm1487712 19 49140181 [T/C] NM_001352 DBP EXON Missense_G24D exm1487713 19 49140182 [T/C] NM_001352 DBP EXON Missense_G24S exm2275095 19 49142250 [T/C] NM_001217,NR_004401 CA11,SEC1P EXON Missense_G286S,Silent exm1487728 19 49142593 [A/G] NM_001217,NR_004401 CA11,SEC1P EXON Missense_I255T,Silent exm1487733 19 49142711 [A/C] NM_001217,NR_004401 CA11,SEC1P EXON Missense_A216S,Silent exm1487737 19 49142833 [T/C] NM_001217,NR_004401 CA11,SEC1P EXON Missense_D205N,Silent exm1487761 19 49164944 [A/G] NR_004401,NM_145807 SEC1P,NTN5 EXON Silent,Missense_P487L exm1487777 19 49166726 [T/C] NR_004401,NM_145807 SEC1P,NTN5 EXON Silent,Missense_D367N exm1487778 19 49166741 [T/C] NR_004401,NM_145807 SEC1P,NTN5 EXON Silent,Missense_R362G exm1487787 19 49167399 [T/C] NR_004401,NM_145807 SEC1P,NTN5 Silent,Silent exm1487792 19 49167531 [A/G] NR_004401,NM_145807 SEC1P,NTN5 EXON Silent,Missense_I280T exm1487795 19 49167851 [A/G] NR_004401,NM_145807 SEC1P,NTN5 EXON Silent,Missense_R269C exm1487796 19 49167860 [T/G] NR_004401,NM_145807 SEC1P,NTN5 EXON Silent,Missense_I266L exm1487807 19 49167993 [G/C] NR_004401,NM_145807 SEC1P,NTN5 EXON Silent,Missense_C221W exm1487809 19 49168000 [T/C] NR_004401,NM_145807 SEC1P,NTN5 EXON Silent,Missense_R219Q exm1487829 19 49174077 [T/C] NR_004401,NM_145807 SEC1P,NTN5 EXON Silent,Missense_G56D exm1487835 19 49174170 [T/C] NR_004401,NM_145807 SEC1P,NTN5 EXON Silent,Missense_R25H exm1487846 19 49206286 [A/G] NM_000511,NM_001097638 FUT2,FUT2 EXON Missense_I25V,Missense_I25V exm1487849 19 49206298 [T/C] NM_000511,NM_001097638 FUT2,FUT2 EXON Nonsense_Q29X,Nonsense_Q29X exm1944978 19 49206304 [T/C] NM_000511,NM_001097638 FUT2,FUT2 EXON Missense_R31W,Missense_R31W exm1487852 19 49206359 [T/C] NM_000511,NM_001097638 FUT2,FUT2 EXON Missense_A49V,Missense_A49V exm-rs492602 19 49206417 [A/G] NM_000511,NM_001097638 FUT2,FUT2 EXON Synonymous_A68A,Synonymous_A68A exm1487873 19 49206631 [T/A] NM_000511,NM_001097638 FUT2,FUT2 EXON Missense_I140F,Missense_I140F exm1487879 19 49206658 [A/G] NM_000511,NM_001097638 FUT2,FUT2 EXON Missense_G149S,Missense_G149S exm1487885 19 49206727 [A/G] NM_000511,NM_001097638 FUT2,FUT2 EXON Missense_D172N,Missense_D172N exm1487894 19 49206790 [A/G] NM_000511,NM_001097638 FUT2,FUT2 EXON Missense_G193S,Missense_G193S exm1487899 19 49206817 [T/C] NM_000511,NM_001097638 FUT2,FUT2 EXON Nonsense_R202X,Nonsense_R202X exm1487900 19 49206818 [A/G] NM_000511,NM_001097638 FUT2,FUT2 EXON Missense_R202Q,Missense_R202Q exm1487904 19 49206862 [G/C] NM_000511,NM_001097638 FUT2,FUT2 EXON Missense_V217L,Missense_V217L exm1487909 19 49206904 [T/C] NM_000511,NM_001097638 FUT2,FUT2 EXON Nonsense_R231X,Nonsense_R231X exm1487912 19 49206985 [A/G] NM_000511,NM_001097638 FUT2,FUT2 EXON Missense_G258S,Missense_G258S exm-IND19-53898835 19 49207024 [D/I] NM_000511,NM_001097638 FUT2,FUT2 EXON exm2229715 19 49207095 [A/G] NM_000511,NM_001097638 FUT2,FUT2 EXON Nonsense_W294X,Nonsense_W294X exm1944989 19 49207226 [A/C] NM_000511,NM_001097638 FUT2,FUT2 EXON Missense_S338Y,Missense_S338Y exm-rs504963 19 49208865 [A/G] NM_000511,NM_001097638 FUT2,FUT2 EXON Silent,Silent exm-rs281379 19 49214274 [A/G] exm1487934 19 49216543 [A/G] NM_001130915,NM_182574 MAMSTR,MAMSTR EXON Missense_L410P,Missense_L307P exm1487941 19 49216688 [A/G] NM_001130915,NM_182574 MAMSTR,MAMSTR EXON Missense_S362P,Missense_S259P exm1487961 19 49217289 [A/G] NM_001130915,NM_182574 MAMSTR,MAMSTR EXON Missense_A246V,Missense_A143V exm1487968 19 49217732 [T/C] NM_001130915,NM_182574 MAMSTR,MAMSTR EXON Missense_G205D,Missense_G102D exm1487990 19 49224107 [T/C] NM_017805 RASIP1 EXON Missense_Q947R exm1487991 19 49224120 [T/C] NM_017805 RASIP1 EXON Missense_D943N exm1487994 19 49224141 [T/C] NM_017805 RASIP1 EXON Missense_R936G exm1488012 19 49225231 [A/G] NM_017805 RASIP1 EXON Missense_H858Y exm1488014 19 49227611 [A/G] NM_017805 RASIP1 EXON Missense_R843C exm1488032 19 49228118 [T/C] NM_017805 RASIP1 EXON Missense_G743R exm-rs2287921 19 49228272 [T/C] NM_017805 RASIP1 Silent exm1488046 19 49230374 [A/G] NM_017805 RASIP1 EXON Missense_A638V exm1488054 19 49232226 [A/G] NM_017805 RASIP1 EXON Missense_R601C exm1488070 19 49232768 [A/G] NM_017805 RASIP1 EXON Missense_P420L exm1488076 19 49238458 [A/C] NM_017805 RASIP1 EXON Missense_A392S exm1488090 19 49238808 [G/C] NM_017805 RASIP1 EXON Missense_G275A exm1488109 19 49244220 [A/G] NM_182575 IZUMO1 EXON Missense_A333V exm2253930 19 49244593 [A/G] NM_182575 IZUMO1 EXON Synonymous_C299C exm1488118 19 49244660 [T/G] NM_182575 IZUMO1 EXON Missense_S277Y exm1488120 19 49244700 [A/G] NM_182575 IZUMO1 EXON Missense_P264S exm1488122 19 49245054 [T/A] NM_182575 IZUMO1 EXON Missense_H249L exm1488130 19 49245168 [G/C] NM_182575 IZUMO1 EXON Missense_S211C exm1488133 19 49245497 [A/G] NM_182575 IZUMO1 EXON Missense_S190L exm1488138 19 49246755 [T/C] NM_182575 IZUMO1 EXON Missense_C149Y exm1488146 19 49247785 [T/C] NM_182575 IZUMO1 EXON Missense_V108M exm1945054 19 49249077 [T/C] NM_182575 IZUMO1 EXON Missense_G14S exm1488169 19 49253517 [A/G] NM_000148 FUT1 EXON Missense_P341L exm1488177 19 49253775 [A/G] NM_000148 FUT1 EXON Missense_A255V exm1488186 19 49254121 [A/G] NM_000148 FUT1 EXON Missense_P140S exm1488189 19 49254190 [A/G] NM_000148 FUT1 EXON Missense_H117Y exm1488191 19 49254310 [C/G] NM_000148 FUT1 EXON Missense_L77V exm1488193 19 49254343 [T/C] NM_000148 FUT1 EXON Missense_A66T exm1488197 19 49254504 [A/G] NM_000148 FUT1 EXON Missense_A12V exm1488215 19 49259627 [A/G] NM_019113 FGF21 EXON Missense_R45Q exm1488216 19 49259633 [A/G] NM_019113 FGF21 EXON Missense_R47Q exm1488224 19 49260210 [T/C] NM_019113 FGF21 EXON Missense_P88L exm1488225 19 49260250 [C/G] NM_019113 FGF21 EXON Missense_F101L exm1488232 19 49261218 [A/G] NM_019113 FGF21 EXON Missense_R124Q exm2276661 19 49261455 [A/G] NM_019113 FGF21 EXON Missense_R203Q exm1488256 19 49261469 [A/G] NM_019113 FGF21 EXON Missense_A208T exm1488260 19 49298715 [A/T] NR_028450,NR_028451,NM_001164773,NM_001190 BCAT2,BCAT2,BCAT2,BCAT2 EXON Silent,Silent,Missense_I291F,Missense_I383F exm1488264 19 49299705 [T/C] NR_028450,NR_028451,NM_001164773,NM_001190 BCAT2,BCAT2,BCAT2,BCAT2 EXON Silent,Silent,Missense_K282E,Missense_K374E exm1945084 19 49299714 [A/G] NR_028450,NR_028451,NM_001164773,NM_001190 BCAT2,BCAT2,BCAT2,BCAT2 EXON Silent,Silent,Missense_R279C,Missense_R371C exm1488270 19 49299903 [A/G] NR_028450,NR_028451,NM_001164773,NM_001190 BCAT2,BCAT2,BCAT2,BCAT2 EXON Silent,Silent,Missense_R241W,Missense_R333W exm1488274 19 49299944 [G/C] NR_028450,NR_028451,NM_001164773,NM_001190 BCAT2,BCAT2,BCAT2,BCAT2 EXON Silent,Silent,Missense_T227S,Missense_T319S exm1488286 19 49302983 [C/G] NR_028450,NR_028451,NM_001164773,NM_001190 BCAT2,BCAT2,BCAT2,BCAT2 EXON Silent,Silent,Missense_P123R,Missense_P215R exm1488288 19 49303005 [A/G] NR_028450,NR_028451,NM_001164773,NM_001190 BCAT2,BCAT2,BCAT2,BCAT2 EXON Silent,Silent,Missense_P116S,Missense_P208S exm1488291 19 49303276 [T/G] NR_028450,NR_028451,NM_001164773,NM_001190 BCAT2,BCAT2,BCAT2,BCAT2 EXON Silent,Silent,Missense_T73P,Missense_T165P exm1488300 19 49303521 [T/C] NR_028450,NR_028451,NM_001164773,NM_001190 BCAT2,BCAT2,BCAT2,BCAT2 EXON Silent,Silent,Missense_D20N,Missense_D112N exm1488302 19 49309776 [C/G] NR_028450,NR_028451,NM_001164773,NM_001190 BCAT2,BCAT2,BCAT2,BCAT2 EXON Silent,Silent,Silent,Missense_Q100E exm1488307 19 49309854 [T/C] NR_028450,NR_028451,NM_001164773,NM_001190 BCAT2,BCAT2,BCAT2,BCAT2 EXON Silent,Silent,Silent,Missense_G74S exm2229723 19 49309887 [T/C] NR_028450,NR_028451,NM_001164773,NM_001190 BCAT2,BCAT2,BCAT2,BCAT2 EXON Silent,Silent,Silent,Missense_D63N exm1488313 19 49309937 [T/C] NR_028450,NR_028451,NM_001164773,NM_001190 BCAT2,BCAT2,BCAT2,BCAT2 EXON Silent,Silent,Silent,Missense_H46R exm1488316 19 49309952 [A/C] NR_028450,NR_028451,NM_001164773,NM_001190 BCAT2,BCAT2,BCAT2,BCAT2 EXON Silent,Silent,Silent,Missense_M41R exm1488326 19 49316458 [T/C] NM_016246 HSD17B14 EXON Missense_V263M exm1488339 19 49318380 [A/G] NM_016246 HSD17B14 EXON Missense_R130W exm1488346 19 49335923 [A/G] NM_016246 HSD17B14 EXON Missense_H93Y exm1488350 19 49335965 [A/G] NM_016246 HSD17B14 EXON Nonsense_R79X exm1488351 19 49335971 [T/C] NM_016246 HSD17B14 EXON Missense_I77V exm1488353 19 49337538 [T/C] NM_016246 HSD17B14 EXON Missense_V69M exm1488355 19 49337558 [T/C] NM_016246 HSD17B14 EXON Missense_D62G exm1488356 19 49337559 [A/C] NM_016246 HSD17B14 EXON Missense_D62Y exm1488371 19 49339083 [T/C] NM_016246 HSD17B14 EXON Missense_V36M exm1488373 19 49339098 [T/C] NM_016246 HSD17B14 EXON Missense_N31D exm1488377 19 49339590 [A/G] NM_016246 HSD17B14 EXON Missense_R27C exm1488379 19 49339623 [A/C] NM_016246 HSD17B14 EXON Missense_G16W exm1488393 19 49340746 [T/C] NM_001161354,NM_020904 PLEKHA4,PLEKHA4 EXON Silent,Missense_T714A exm1488394 19 49340772 [C/G] NM_001161354,NM_020904 PLEKHA4,PLEKHA4 EXON Silent,Missense_G705A exm1488395 19 49340782 [C/G] NM_001161354,NM_020904 PLEKHA4,PLEKHA4 EXON Silent,Missense_P702A exm1488408 19 49342514 [T/C] NM_001161354,NM_020904 PLEKHA4,PLEKHA4 EXON Silent,Missense_V638I exm1488415 19 49344428 [T/C] NM_001161354,NM_020904 PLEKHA4,PLEKHA4 EXON Silent,Missense_R628H exm1488419 19 49344482 [T/C] NM_001161354,NM_020904 PLEKHA4,PLEKHA4 EXON Silent,Missense_R610H exm1488422 19 49344521 [T/C] NM_001161354,NM_020904 PLEKHA4,PLEKHA4 EXON Silent,Missense_R597Q exm1488424 19 49344548 [T/C] NM_001161354,NM_020904 PLEKHA4,PLEKHA4 EXON Silent,Missense_R588Q exm1488436 19 49348801 [T/C] NM_001161354,NM_020904 PLEKHA4,PLEKHA4 EXON Missense_D522N,Missense_D547N exm1488441 19 49348831 [T/C] NM_001161354,NM_020904 PLEKHA4,PLEKHA4 EXON Missense_E512K,Missense_E537K exm1488444 19 49351155 [A/G] NM_001161354,NM_020904 PLEKHA4,PLEKHA4 Silent,Silent exm1488446 19 49351177 [T/C] NM_001161354,NM_020904 PLEKHA4,PLEKHA4 EXON Missense_E491K,Missense_E516K exm1488448 19 49351242 [A/G] NM_001161354,NM_020904 PLEKHA4,PLEKHA4 EXON Missense_L469P,Missense_L494P exm1488463 19 49357069 [A/G] NM_001161354,NM_020904 PLEKHA4,PLEKHA4 EXON Missense_L374P,Missense_L399P exm1488470 19 49357496 [T/A] NM_001161354,NM_020904 PLEKHA4,PLEKHA4 EXON Missense_F333Y,Missense_F358Y exm1488472 19 49357520 [A/G] NM_001161354,NM_020904 PLEKHA4,PLEKHA4 EXON Missense_P325L,Missense_P350L exm1488476 19 49360698 [T/C] NM_001161354,NM_020904 PLEKHA4,PLEKHA4 EXON Silent,Missense_R343Q exm1488479 19 49360716 [A/G] NM_001161354,NM_020904 PLEKHA4,PLEKHA4 EXON Silent,Missense_P337L exm1488491 19 49362772 [T/C] NM_001161354,NM_020904 PLEKHA4,PLEKHA4 EXON Missense_T216A,Missense_T216A exm1488502 19 49363674 [T/C] NM_001161354,NM_020904 PLEKHA4,PLEKHA4 EXON Missense_T137A,Missense_T137A exm1488507 19 49364674 [T/C] NM_001161354,NM_020904 PLEKHA4,PLEKHA4 EXON Missense_R117Q,Missense_R117Q exm1488511 19 49364752 [T/C] NM_001161354,NM_020904 PLEKHA4,PLEKHA4 EXON Missense_R91H,Missense_R91H exm1488514 19 49364918 [T/C] NM_001161354,NM_020904 PLEKHA4,PLEKHA4 EXON Missense_R75H,Missense_R75H exm1488520 19 49368843 [T/C] NM_001161354,NM_020904 PLEKHA4,PLEKHA4 EXON Missense_I37V,Missense_I37V exm2275096 19 49368858 [A/G] NM_001161354,NM_020904 PLEKHA4,PLEKHA4 EXON Missense_R32W,Missense_R32W exm1488524 19 49370819 [T/G] NM_001161354,NM_020904 PLEKHA4,PLEKHA4 EXON Missense_S20Y,Missense_S20Y exm1488526 19 49370859 [A/G] NM_001161354,NM_020904 PLEKHA4,PLEKHA4 EXON Missense_R7C,Missense_R7C exm1488534 19 49376582 [A/G] NM_014330 PPP1R15A EXON Missense_R31H exm1488535 19 49376584 [A/G] NM_014330 PPP1R15A EXON Missense_A32T exm1488538 19 49376603 [T/G] NM_014330 PPP1R15A EXON Missense_G38V exm1488544 19 49376683 [A/G] NM_014330 PPP1R15A EXON Missense_R65G exm1488545 19 49376719 [T/A] NM_014330 PPP1R15A EXON Nonsense_R77X exm1488547 19 49376834 [A/G] NM_014330 PPP1R15A EXON Missense_D115G exm1488548 19 49376852 [A/G] NM_014330 PPP1R15A EXON Missense_R121Q exm1488551 19 49376897 [A/G] NM_014330 PPP1R15A EXON Missense_D136G exm1488553 19 49376905 [T/C] NM_014330 PPP1R15A EXON Missense_R139C exm1488556 19 49376965 [C/G] NM_014330 PPP1R15A EXON Missense_G159R exm1488565 19 49377086 [T/C] NM_014330 PPP1R15A EXON Missense_V199A exm1488566 19 49377089 [A/G] NM_014330 PPP1R15A EXON Missense_K200R exm1488573 19 49377212 [A/G] NM_014330 PPP1R15A EXON Missense_K241R exm1488576 19 49377242 [G/C] NM_014330 PPP1R15A EXON Missense_R251P exm1488583 19 49377319 [A/G] NM_014330 PPP1R15A EXON Missense_K277E exm1488593 19 49377424 [A/G] NM_014330 PPP1R15A EXON Missense_G312S exm1488594 19 49377436 [G/C] NM_014330 PPP1R15A EXON Missense_A316P exm1488596 19 49377472 [T/C] NM_014330 PPP1R15A EXON Missense_C328R exm1488602 19 49377749 [T/C] NM_014330 PPP1R15A EXON Missense_A420V exm1488605 19 49377793 [C/G] NM_014330 PPP1R15A EXON Missense_R435G exm1488607 19 49377814 [A/G] NM_014330 PPP1R15A EXON Missense_E442K exm1488609 19 49377889 [C/G] NM_014330 PPP1R15A EXON Missense_D467H exm1488610 19 49377918 [T/G] NM_014330 PPP1R15A EXON Missense_R476S exm1488620 19 49378124 [T/C] NM_014330 PPP1R15A EXON Missense_P545L exm1488628 19 49378911 [T/G] NM_014330 PPP1R15A EXON Missense_V569G exm1488655 19 49384272 [T/C] NM_003323 TULP2 EXON Missense_N520S exm1488656 19 49384276 [A/G] NM_003323 TULP2 EXON Missense_F519L exm1488658 19 49384284 [A/G] NM_003323 TULP2 EXON Missense_L516S exm1488660 19 49384356 [T/C] NM_003323 TULP2 EXON Missense_R492Q exm1488675 19 49387024 [A/G] NM_003323 TULP2 EXON Missense_V421A exm1488677 19 49387033 [T/C] NM_003323 TULP2 EXON Missense_R418Q exm1488681 19 49387197 [T/C] NM_003323 TULP2 EXON Missense_V390M exm1488688 19 49388732 [T/C] NM_003323 TULP2 EXON Missense_D345G exm1488689 19 49388735 [T/C] NM_003323 TULP2 EXON Missense_R344Q exm1488690 19 49388736 [A/G] NM_003323 TULP2 EXON Missense_R344W exm1488692 19 49388791 [T/G] NM_003323 TULP2 EXON Missense_R325S exm1488696 19 49391266 [T/C] NM_003323 TULP2 EXON Missense_V297M exm1488707 19 49391323 [A/G] NM_003323 TULP2 EXON Missense_R278W exm1488711 19 49391371 [A/G] NM_003323 TULP2 EXON Missense_R262C exm1488713 19 49391404 [T/C] NM_003323 TULP2 EXON Missense_D251N exm1488714 19 49391412 [A/G] NM_003323 TULP2 EXON Missense_T248M exm1488721 19 49392782 [G/C] NM_003323 TULP2 EXON Missense_N207K exm1488725 19 49392867 [G/C] NM_003323 TULP2 EXON Missense_S179T exm1488726 19 49392882 [T/C] NM_003323 TULP2 EXON Missense_R174H exm1488735 19 49398341 [A/G] NM_003323 TULP2 EXON Missense_S143F exm1488738 19 49398405 [T/C] NM_003323 TULP2 EXON Missense_G122S exm1488748 19 49399749 [C/G] NM_003323 TULP2 EXON Missense_P50R exm1488755 19 49400634 [T/C] NM_003323 TULP2 EXON Missense_A18T exm1488756 19 49401095 [G/C] NM_003323 TULP2 EXON Missense_D11H exm1488757 19 49401100 [A/G] NM_003323 TULP2 EXON Missense_M9T exm1488762 19 49404082 [T/C] NM_006184 NUCB1 EXON Missense_L10P exm1488764 19 49404144 [T/C] NM_006184 NUCB1 EXON Nonsense_R31X exm1488770 19 49407659 [T/C] NM_006184 NUCB1 EXON Missense_T64M exm1488772 19 49407673 [T/C] NM_006184 NUCB1 EXON Nonsense_R69X exm1488773 19 49407695 [A/G] NM_006184 NUCB1 EXON Missense_N76S exm1488777 19 49409026 [A/G] NM_006184 NUCB1 EXON Missense_R87Q exm1488782 19 49409095 [A/G] NM_006184 NUCB1 EXON Missense_R110Q exm1945269 19 49414442 [T/C] NM_006184 NUCB1 EXON Missense_F138S exm1488789 19 49414508 [T/C] NM_006184 NUCB1 EXON Missense_T160M exm2229734 19 49416353 [A/G] NM_006184 NUCB1 EXON Missense_R189H exm1945282 19 49416813 [T/C] NM_006184 NUCB1 EXON Missense_I250T exm1488814 19 49421985 [A/G] NM_006184 NUCB1 EXON Missense_I254V exm1945287 19 49422322 [A/C] NM_006184 NUCB1 EXON Missense_D284E exm1488826 19 49422507 [T/G] NM_006184 NUCB1 EXON Missense_Q322H exm1945289 19 49422517 [T/C] NM_006184 NUCB1 EXON Missense_F326L exm2260877 19 49424381 [A/C] NM_006184 NUCB1 Silent exm1488830 19 49424420 [A/G] NM_006184 NUCB1 EXON Missense_M338V exm1488832 19 49424438 [A/G] NM_006184 NUCB1 EXON Missense_E344K exm1488837 19 49424482 [T/G] NM_006184 NUCB1 EXON Missense_E358D exm1488844 19 49425145 [A/C] NM_006184 NUCB1 EXON Missense_P412Q exm1488847 19 49425576 [T/C] NM_006184 NUCB1 EXON Synonymous_D427D exm1488858 19 49436980 [A/T] NM_014475 DHDH EXON Missense_M1K exm1488859 19 49436981 [T/G] NM_014475 DHDH EXON Missense_M1I exm1488860 19 49436982 [C/G] NM_014475 DHDH EXON Missense_A2P exm1488867 19 49438279 [A/C] NM_014475 DHDH EXON Missense_D38A exm1488868 19 49438288 [A/G] NM_014475 DHDH EXON Missense_R41H exm1488870 19 49438363 [A/G] NM_014475 DHDH EXON Missense_S66N exm1488874 19 49439363 [A/G] NM_014475 DHDH EXON Missense_V93I exm1488877 19 49439401 [A/T] NM_014475 DHDH EXON Missense_E105D exm1488883 19 49442775 [C/G] NM_014475 DHDH EXON Missense_D146H exm1488884 19 49442781 [T/C] NM_014475 DHDH EXON Missense_R148W exm1488890 19 49442844 [T/C] NM_014475 DHDH EXON Nonsense_Q169X exm-IND19-54134661 19 49442850 [D/I] NM_014475 DHDH EXON exm1488896 19 49442937 [A/G] NM_014475 DHDH EXON Missense_V200M exm1488897 19 49442940 [A/G] NM_014475 DHDH EXON Missense_G201R exm1488898 19 49442946 [T/C] NM_014475 DHDH EXON Missense_R203C exm1488904 19 49445774 [T/C] NM_014475 DHDH EXON Nonsense_Q233X exm1488912 19 49445817 [T/C] NM_014475 DHDH EXON Missense_V247A exm1488915 19 49447623 [T/C] NM_014475 DHDH EXON Missense_P252S exm1488921 19 49447713 [A/G] NM_014475 DHDH EXON Missense_G282R exm-IND19-54139560 19 49447749 [I/D] NM_014475 DHDH EXON exm1488931 19 49448156 [T/C] NM_014475 DHDH EXON Missense_A324V exm1488948 19 49458973 [T/G] NM_138764,NR_027882,NM_004324,NM_138761,NM_138763 BAX,BAX,BAX,BAX,BAX EXON Missense_G39V,Silent,Missense_G39V,Missense_G39V,Silent exm1489020 19 49472745 [T/C] NR_027763,NM_002103,NM_001161587 GYS1,GYS1,GYS1 EXON Silent,Missense_G672S,Missense_G608S exm1489024 19 49472837 [A/G] NR_027763,NM_002103,NM_001161587 GYS1,GYS1,GYS1 EXON Silent,Missense_S641L,Missense_S577L exm1489050 19 49477583 [A/G] NR_027763,NM_002103,NM_001161587 GYS1,GYS1,GYS1 EXON Silent,Missense_P479L,Missense_P415L exm1489051 19 49477909 [T/C] NR_027763,NM_002103,NM_001161587 GYS1,GYS1,GYS1 EXON Silent,Missense_G464S,Missense_G400S exm1489059 19 49481243 [T/C] NR_027763,NM_002103,NM_001161587 GYS1,GYS1,GYS1 EXON Silent,Missense_M416V,Missense_M352V exm1489081 19 49485980 [T/C] NR_027763,NM_002103,NM_001161587 GYS1,GYS1,GYS1 EXON Silent,Missense_Y313C,Missense_Y249C exm1945425 19 49502585 [A/G] NM_006666 RUVBL2 EXON Missense_T8A exm1489142 19 49507562 [T/C] NM_006666 RUVBL2 EXON Missense_A51V exm1489193 19 49514506 [T/C] NM_006666 RUVBL2 EXON Missense_R314W exm-rs753307 19 49518484 [T/C] NM_006666 RUVBL2 Silent exm1489221 19 49519336 [A/G] NM_000894 LHB EXON Missense_L139F exm1489227 19 49519465 [T/C] NM_000894 LHB EXON Missense_V96M exm1489401 19 49558205 [A/G] NM_033142 CGB7 EXON Missense_R26W exm2229747 19 49564629 [T/C] NM_006179 NTF4 EXON Missense_R209Q exm1489423 19 49564639 [A/G] NM_006179 NTF4 EXON Missense_R206W exm1489442 19 49564992 [A/G] NM_006179 NTF4 EXON Missense_A88V exm1489460 19 49573438 [A/G] NM_031886 KCNA7 EXON Missense_M418T exm1489480 19 49573907 [T/C] NM_031886 KCNA7 EXON Missense_A262T exm1489493 19 49574132 [A/G] NM_031886 KCNA7 EXON Missense_P187S exm1945603 19 49575449 [C/G] NM_031886 KCNA7 EXON Missense_L132V exm1489551 19 49611623 [A/C] NM_003089 SNRNP70 EXON Missense_M413L exm1489552 19 49611639 [A/C] NM_003089 SNRNP70 EXON Missense_E418A exm1489563 19 49618559 [A/G] NM_022165 LIN7B EXON Missense_A67T exm1489568 19 49619539 [T/C] NM_022165 LIN7B EXON Missense_T83I exm1489572 19 49619568 [A/G] NM_022165 LIN7B EXON Missense_V93I exm1489577 19 49621122 [T/G] NM_022165 LIN7B EXON Missense_G150V exm1489602 19 49621964 [T/C] NM_018111 C19orf73 EXON Missense_S106G exm1489606 19 49622030 [C/G] NM_018111 C19orf73 EXON Missense_G84R exm1489611 19 49622191 [T/C] NM_018111 C19orf73 EXON Missense_R30K exm1489614 19 49622210 [T/C] NM_018111 C19orf73 EXON Missense_V24M exm1489616 19 49622267 [T/C] NM_018111 C19orf73 EXON Missense_V5I exm1489645 19 49633675 [A/G] NM_003660 PPFIA3 EXON Missense_R233Q exm2229753 19 49643328 [A/G] NM_003660 PPFIA3 EXON Missense_R784Q exm1489726 19 49644685 [A/C] NM_003660 PPFIA3 EXON Missense_P793T exm2229754 19 49651382 [A/G] NM_003660 PPFIA3 EXON Missense_D960N exm2253932 19 49651989 [A/G] NM_003660 PPFIA3 EXON Synonymous_R1026R exm1945705 19 49652888 [T/G] NM_003660 PPFIA3 EXON Missense_A1147S exm1489770 19 49654561 [C/G] NM_002152 HRC EXON Missense_E698Q exm1489781 19 49655273 [T/C] NM_002152 HRC EXON Missense_V672I exm1489797 19 49656807 [T/C] NM_002152 HRC EXON Missense_S563N exm1489804 19 49656955 [A/G] NM_002152 HRC EXON Missense_R514W exm1489808 19 49657018 [T/C] NM_002152 HRC EXON Missense_G493S exm1489809 19 49657036 [C/G] NM_002152 HRC EXON Missense_E487Q exm1489821 19 49657306 [A/G] NM_002152 HRC EXON Nonsense_R397X exm1489826 19 49657423 [A/G] NM_002152 HRC EXON Missense_S358P exm1489828 19 49657444 [T/C] NM_002152 HRC EXON Missense_E351K exm2275099 19 49657445 [A/G] NM_002152 HRC EXON Synonymous_D350D exm1489831 19 49657458 [T/C] NM_002152 HRC EXON Missense_Q346R exm1489833 19 49657494 [T/C] NM_002152 HRC EXON Missense_G334D exm1489834 19 49657503 [T/G] NM_002152 HRC EXON Missense_A331D exm1489836 19 49657527 [T/C] NM_002152 HRC EXON Missense_D323G exm1489837 19 49657530 [T/C] NM_002152 HRC EXON Missense_Q322R exm1489839 19 49657569 [A/T] NM_002152 HRC EXON Missense_D309V exm1489847 19 49657613 [T/G] NM_002152 HRC EXON Missense_S294R exm1489848 19 49657620 [T/G] NM_002152 HRC EXON Missense_D292A exm1489851 19 49657627 [G/C] NM_002152 HRC EXON Missense_H290D exm1489862 19 49657741 [A/C] NM_002152 HRC EXON Missense_D252Y exm1489864 19 49657744 [A/C] NM_002152 HRC EXON Missense_D251Y exm1489865 19 49657745 [T/A] NM_002152 HRC EXON Missense_D250E exm1945733 19 49657920 [T/C] NM_002152 HRC EXON Missense_G192E exm1489881 19 49657939 [C/G] NM_002152 HRC EXON Missense_D186H exm1489882 19 49657953 [C/G] NM_002152 HRC EXON Missense_G181A exm1489883 19 49657984 [T/C] NM_002152 HRC EXON Missense_S171G exm1489890 19 49658121 [A/G] NM_002152 HRC EXON Missense_A125V exm1489895 19 49658209 [A/C] NM_002152 HRC EXON Missense_S96A exm1489903 19 49658344 [T/C] NM_002152 HRC EXON Missense_E51K exm1489907 19 49658367 [T/C] NM_002152 HRC EXON Missense_S43N exm1489908 19 49658376 [T/C] NM_002152 HRC EXON Missense_R40Q exm1489911 19 49658424 [A/G] NM_002152 HRC EXON Missense_P24L exm1489913 19 49658467 [T/C] NM_002152 HRC EXON Missense_A10T exm-rs11667393 19 49662027 [A/G] NM_001195227,NM_017636 TRPM4,TRPM4 Silent,Silent exm2253933 19 49663476 [T/G] NM_001195227,NM_017636 TRPM4,TRPM4 Silent,Silent exm1489934 19 49671207 [A/G] NM_001195227,NM_017636 TRPM4,TRPM4 EXON Missense_A101T,Missense_A101T exm1489937 19 49671228 [T/C] NM_001195227,NM_017636 TRPM4,TRPM4 EXON Missense_R108C,Missense_R108C exm1489938 19 49671244 [A/G] NM_001195227,NM_017636 TRPM4,TRPM4 EXON Missense_R113H,Missense_R113H exm1489964 19 49671945 [T/C] NM_001195227,NM_017636 TRPM4,TRPM4 EXON Missense_R250C,Missense_R250C exm1489965 19 49671952 [A/G] NM_001195227,NM_017636 TRPM4,TRPM4 EXON Missense_R252H,Missense_R252H exm1489967 19 49671987 [A/G] NM_001195227,NM_017636 TRPM4,TRPM4 EXON Missense_V264M,Missense_V264M exm1489970 19 49674673 [A/G] NM_001195227,NM_017636 TRPM4,TRPM4 EXON Missense_T286A,Missense_T286A exm2275255 19 49674836 [A/G] NM_001195227,NM_017636 TRPM4,TRPM4 EXON Missense_R287Q,Missense_R287Q exm1489977 19 49674861 [T/G] NM_001195227,NM_017636 TRPM4,TRPM4 EXON Missense_Q295H,Missense_Q295H exm1489982 19 49674964 [A/G] NM_001195227,NM_017636 TRPM4,TRPM4 EXON Missense_E330K,Missense_E330K exm1489989 19 49675297 [T/G] NM_001195227,NM_017636 TRPM4,TRPM4 EXON Missense_L361R,Missense_L361R exm1489992 19 49675354 [T/C] NM_001195227,NM_017636 TRPM4,TRPM4 EXON Missense_A380V,Missense_A380V exm1490004 19 49685865 [A/G] NM_001195227,NM_017636 TRPM4,TRPM4 EXON Missense_A432T,Missense_A432T exm1490005 19 49685879 [A/C] NM_001195227,NM_017636 TRPM4,TRPM4 EXON Missense_D436E,Missense_D436E exm1490008 19 49685895 [T/C] NM_001195227,NM_017636 TRPM4,TRPM4 EXON Missense_R442C,Missense_R442C exm1490011 19 49685947 [A/G] NM_001195227,NM_017636 TRPM4,TRPM4 EXON Missense_R459H,Missense_R459H exm1490017 19 49686013 [C/G] NM_001195227,NM_017636 TRPM4,TRPM4 EXON Missense_S481C,Missense_S481C exm1490021 19 49686146 [A/G] NM_001195227,NM_017636 TRPM4,TRPM4 EXON Nonsense_W525X,Nonsense_W525X exm1490025 19 49686408 [A/C] NM_001195227,NM_017636 TRPM4,TRPM4 EXON Missense_D561A,Missense_D561A exm1490027 19 49686441 [A/C] NM_001195227,NM_017636 TRPM4,TRPM4 EXON Missense_A572E,Missense_A572E exm1490031 19 49691898 [A/G] NM_001195227,NM_017636 TRPM4,TRPM4 EXON Missense_G582S,Missense_G582S exm1490050 19 49693976 [A/G] NM_001195227,NM_017636 TRPM4,TRPM4 EXON Missense_R719Q,Missense_R719Q exm1490052 19 49694029 [A/G] NM_001195227,NM_017636 TRPM4,TRPM4 EXON Missense_G737R,Missense_G737R exm1490077 19 49700047 [A/G] NM_001195227,NM_017636 TRPM4,TRPM4 EXON Silent,Missense_Q854R exm1490082 19 49703585 [T/C] NM_001195227,NM_017636 TRPM4,TRPM4 EXON Missense_R747C,Missense_R892C exm1490087 19 49703651 [T/A] NM_001195227,NM_017636 TRPM4,TRPM4 EXON Nonsense_K769X,Nonsense_K914X exm1490089 19 49703909 [T/G] NM_001195227,NM_017636 TRPM4,TRPM4 EXON Missense_W795C,Missense_W940C exm1490104 19 49705301 [A/G] NM_001195227,NM_017636 TRPM4,TRPM4 EXON Missense_V867I,Missense_V1012I exm1490126 19 49714065 [A/G] NM_001195227,NM_017636 TRPM4,TRPM4 EXON Missense_S998G,Missense_S1143G exm1490129 19 49714099 [A/G] NM_001195227,NM_017636 TRPM4,TRPM4 EXON Missense_K1009R,Missense_K1154R exm1490133 19 49714497 [T/C] NM_001195227,NM_017636 TRPM4,TRPM4 EXON Missense_P1059L,Missense_P1204L exm1490143 19 49793508 [T/C] NM_014037 SLC6A16 EXON Missense_G695R exm1490152 19 49793872 [T/G] NM_014037 SLC6A16 EXON Missense_D644A exm2253934 19 49796533 [A/G] NM_014037 SLC6A16 EXON Synonymous_I575I exm1490177 19 49797664 [T/C] NM_014037 SLC6A16 EXON Missense_R459H exm1490183 19 49797769 [A/G] NM_014037 SLC6A16 EXON Missense_L424P exm1490192 19 49812355 [A/G] NM_014037 SLC6A16 EXON Missense_M336T exm1490195 19 49812607 [A/C] NM_014037 SLC6A16 EXON Missense_L313R exm1490203 19 49812952 [C/G] NM_014037 SLC6A16 EXON Missense_L278V exm1490206 19 49813000 [T/C] NM_014037 SLC6A16 EXON Missense_G262R exm1490208 19 49813069 [A/G] NM_014037 SLC6A16 EXON Missense_R239W exm1490212 19 49813342 [T/C] NM_014037 SLC6A16 EXON Missense_V219I exm1490215 19 49813395 [T/C] NM_014037 SLC6A16 EXON Missense_N201S exm1490229 19 49814281 [T/G] NM_014037 SLC6A16 EXON Missense_S108R exm1490230 19 49814294 [A/G] NM_014037 SLC6A16 EXON Missense_P104L exm1490232 19 49814310 [T/C] NM_014037 SLC6A16 EXON Missense_V99I exm1490233 19 49814326 [C/G] NM_014037 SLC6A16 EXON Missense_E93D exm1490242 19 49814539 [A/C] NM_014037 SLC6A16 EXON Missense_I22M exm1490255 19 49840207 [A/G] NM_001774,NM_001040031 CD37,CD37 EXON Missense_A62T,Silent exm1490276 19 49842126 [A/T] NM_001774,NM_001040031 CD37,CD37 EXON Missense_H206L,Missense_H138L exm1490281 19 49842642 [T/G] NM_001774,NM_001040031 CD37,CD37 EXON Missense_G247V,Missense_G179V exm1490287 19 49843566 [A/G] NM_001774,NM_001040031 CD37,CD37 EXON Missense_R276Q,Missense_R208Q exm1490298 19 49845738 [T/C] NM_001256658,NM_001256662,NM_001256659,NM_001256660,NM_001256661,NM_003598 TEAD2,TEAD2,TEAD2,TEAD2,TEAD2,TEAD2 EXON Missense_R399Q,Missense_R268Q,Missense_R399Q,Missense_R400Q,Missense_R400Q,Missense_R396Q exm1490320 19 49850565 [A/G] NM_001256658,NM_001256662,NM_001256659,NM_001256660,NM_001256661,NM_003598 TEAD2,TEAD2,TEAD2,TEAD2,TEAD2,TEAD2 EXON Missense_P267L,Missense_P136L,Missense_P267L,Missense_P268L,Missense_P268L,Missense_P264L exm1490322 19 49850568 [A/G] NM_001256658,NM_001256662,NM_001256659,NM_001256660,NM_001256661,NM_003598 TEAD2,TEAD2,TEAD2,TEAD2,TEAD2,TEAD2 EXON Missense_A266V,Missense_A135V,Missense_A266V,Missense_A267V,Missense_A267V,Missense_A263V exm1490332 19 49852030 [C/G] NM_001256658,NM_001256662,NM_001256659,NM_001256660,NM_001256661,NM_003598 TEAD2,TEAD2,TEAD2,TEAD2,TEAD2,TEAD2 EXON Missense_G225A,Missense_G94A,Missense_G225A,Missense_G226A,Missense_G226A,Missense_G222A exm1490347 19 49860521 [A/C] NM_001256658,NM_001256662,NM_001256659,NM_001256660,NM_001256661,NM_003598 TEAD2,TEAD2,TEAD2,TEAD2,TEAD2,TEAD2 EXON Missense_Q116H,Silent,Missense_Q116H,Missense_Q116H,Missense_Q116H,Missense_Q116H exm1490361 19 49863224 [T/C] NM_001256658,NM_001256662,NM_001256659,NM_001256660,NM_001256661,NM_003598 TEAD2,TEAD2,TEAD2,TEAD2,TEAD2,TEAD2 EXON Missense_G37R,Silent,Missense_G37R,Missense_G37R,Missense_G37R,Missense_G37R exm1490365 19 49863299 [T/C] NM_001256658,NM_001256662,NM_001256659,NM_001256660,NM_001256661,NM_003598 TEAD2,TEAD2,TEAD2,TEAD2,TEAD2,TEAD2 EXON Missense_D12N,Silent,Missense_D12N,Missense_D12N,Missense_D12N,Missense_D12N exm2229764 19 49867899 [T/G] NM_001197302,NM_001197301,NM_014419 DKKL1,DKKL1,DKKL1 EXON Silent,Missense_L24R,Missense_L24R exm1490375 19 49867913 [A/G] NM_001197302,NM_001197301,NM_014419 DKKL1,DKKL1,DKKL1 EXON Silent,Missense_A29T,Missense_A29T exm1490381 19 49868818 [A/G] NM_001197302,NM_001197301,NM_014419 DKKL1,DKKL1,DKKL1 EXON Missense_R4Q,Missense_R79Q,Missense_R79Q exm1490395 19 49869128 [A/G] NM_001197302,NM_001197301,NM_014419 DKKL1,DKKL1,DKKL1 EXON Missense_E60K,Silent,Missense_E135K exm1490400 19 49878023 [T/C] NM_001197302,NM_001197301,NM_014419 DKKL1,DKKL1,DKKL1 EXON Missense_T81M,Missense_T125M,Missense_T156M exm1490402 19 49878053 [A/G] NM_001197302,NM_001197301,NM_014419 DKKL1,DKKL1,DKKL1 EXON Missense_R91Q,Missense_R135Q,Missense_R166Q exm1945898 19 49878082 [T/C] NM_001197302,NM_001197301,NM_014419 DKKL1,DKKL1,DKKL1 EXON Missense_R101W,Missense_R145W,Missense_R176W exm1490407 19 49878115 [A/G] NM_001197302,NM_001197301,NM_014419 DKKL1,DKKL1,DKKL1 EXON Missense_G112S,Missense_G156S,Missense_G187S exm1490412 19 49878160 [A/G] NM_001197302,NM_001197301,NM_014419 DKKL1,DKKL1,DKKL1 EXON Missense_D127N,Missense_D171N,Missense_D202N exm1490415 19 49878196 [A/G] NM_001197302,NM_001197301,NM_014419 DKKL1,DKKL1,DKKL1 EXON Missense_E139K,Missense_E183K,Missense_E214K exm1490418 19 49878258 [A/C] NM_001197302,NM_001197301,NM_014419 DKKL1,DKKL1,DKKL1 EXON Nonsense_Y159X,Nonsense_Y203X,Nonsense_Y234X exm1490419 19 49878275 [A/G] NM_001197302,NM_001197301,NM_014419 DKKL1,DKKL1,DKKL1 EXON Missense_R165Q,Missense_R209Q,Missense_R240Q exm1490440 19 49898519 [A/G] NM_144688 CCDC155 EXON Missense_R102H exm1490444 19 49899054 [T/C] NM_144688 CCDC155 EXON Missense_F122L exm1490445 19 49899076 [A/G] NM_144688 CCDC155 EXON Missense_R129Q exm1490460 19 49902399 [A/G] NM_144688 CCDC155 EXON Synonymous_A249A exm1490462 19 49902747 [A/G] NM_144688 CCDC155 EXON Missense_E261K exm1490476 19 49910869 [T/C] NM_144688 CCDC155 EXON Missense_R312C exm1490478 19 49910875 [T/C] NM_144688 CCDC155 EXON Missense_R314C exm1490484 19 49912491 [T/C] NM_144688 CCDC155 EXON Missense_T366I exm1490486 19 49912505 [G/C] NM_144688 CCDC155 EXON Missense_P371A exm1490498 19 49913131 [A/G] NM_144688 CCDC155 EXON Missense_Q423R exm1490514 19 49920429 [A/G] NM_144688 CCDC155 EXON Missense_E485K exm1490517 19 49920517 [T/G] NM_144688 CCDC155 EXON Missense_R514L exm1490518 19 49920634 [A/G] NM_144688 CCDC155 EXON Missense_R519Q exm1490520 19 49920676 [T/C] NM_144688 CCDC155 EXON Missense_L533P exm1945948 19 49926493 [A/G] NM_178449 PTH2 EXON Missense_A35V exm1490545 19 49926562 [A/C] NM_178449 PTH2 EXON Missense_V12G exm1490546 19 49926574 [T/C] NM_178449 PTH2 EXON Missense_R8K exm1490555 19 49930295 [G/C] NM_001195256 LOC100507003 EXON Missense_T203S exm1490559 19 49930721 [T/C] NM_001195256 LOC100507003 EXON Missense_V345A exm1490560 19 49930786 [A/C] NM_001195256 LOC100507003 EXON Missense_P367T exm1490567 19 49933786 [T/C] NM_020309 SLC17A7 EXON Missense_R558Q exm1490639 19 49949652 [A/G] NM_017916 PIH1D1 EXON Missense_P287L exm1490651 19 49949906 [T/C] NM_017916 PIH1D1 EXON Missense_V245M exm1490652 19 49949912 [A/G] NM_017916 PIH1D1 EXON Missense_R243C exm1490658 19 49950298 [T/C] NM_017916 PIH1D1 EXON Missense_V224I exm1490674 19 49952777 [A/G] NM_017916 PIH1D1 EXON Missense_R98C exm1490685 19 49954807 [T/G] NM_017916 PIH1D1 EXON Missense_M9L exm1490692 19 49956613 [A/C] NM_001145396,NM_153329 ALDH16A1,ALDH16A1 EXON Missense_R9S,Missense_R9S exm1490693 19 49956635 [C/G] NM_001145396,NM_153329 ALDH16A1,ALDH16A1 EXON Missense_S16W,Missense_S16W exm1490709 19 49962986 [C/G] NM_001145396,NM_153329 ALDH16A1,ALDH16A1 EXON Missense_T127S,Missense_T127S exm1490710 19 49963001 [A/G] NM_001145396,NM_153329 ALDH16A1,ALDH16A1 EXON Missense_R132Q,Missense_R132Q exm1490712 19 49963010 [A/G] NM_001145396,NM_153329 ALDH16A1,ALDH16A1 EXON Missense_R135Q,Missense_R135Q exm1490714 19 49963015 [A/G] NM_001145396,NM_153329 ALDH16A1,ALDH16A1 EXON Missense_G137R,Missense_G137R exm1490715 19 49963021 [A/G] NM_001145396,NM_153329 ALDH16A1,ALDH16A1 EXON Missense_V139I,Missense_V139I exm1946011 19 49964111 [T/C] NM_001145396,NM_153329 ALDH16A1,ALDH16A1 EXON Missense_S178P,Missense_S178P exm1490727 19 49964969 [T/C] NM_001145396,NM_153329 ALDH16A1,ALDH16A1 EXON Missense_L224P,Missense_L224P exm1490734 19 49965046 [A/G] NM_001145396,NM_153329 ALDH16A1,ALDH16A1 EXON Missense_G250R,Missense_G250R exm1490751 19 49965211 [T/C] NM_001145396,NM_153329 ALDH16A1,ALDH16A1 EXON Silent,Missense_S277L exm1490756 19 49965252 [A/G] NM_001145396,NM_153329 ALDH16A1,ALDH16A1 EXON Silent,Missense_V291M exm1490759 19 49965870 [T/C] NM_001145396,NM_153329 ALDH16A1,ALDH16A1 EXON Missense_A268V,Missense_A319V exm1490767 19 49965956 [A/G] NM_001145396,NM_153329 ALDH16A1,ALDH16A1 EXON Missense_A297T,Missense_A348T exm1490769 19 49965969 [T/C] NM_001145396,NM_153329 ALDH16A1,ALDH16A1 EXON Missense_L301P,Missense_L352P exm1490775 19 49967142 [A/G] NM_001145396,NM_153329 ALDH16A1,ALDH16A1 EXON Missense_R326H,Missense_R377H exm1490778 19 49967396 [G/C] NM_001145396,NM_153329 ALDH16A1,ALDH16A1 EXON Missense_V352L,Missense_V403L exm2253936 19 49967404 [C/G] NM_001145396,NM_153329 ALDH16A1,ALDH16A1 EXON Synonymous_V354V,Synonymous_V405V exm1490786 19 49967454 [T/C] NM_001145396,NM_153329 ALDH16A1,ALDH16A1 EXON Missense_T371M,Missense_T422M exm1490800 19 49967718 [A/T] NM_001145396,NM_153329 ALDH16A1,ALDH16A1 EXON Missense_D408V,Missense_D459V exm1490806 19 49967779 [T/C] NM_001145396,NM_153329 ALDH16A1,ALDH16A1 EXON Synonymous_D428D,Synonymous_D479D exm1490814 19 49967928 [T/C] NM_001145396,NM_153329 ALDH16A1,ALDH16A1 EXON Missense_R442W,Missense_R493W exm1490818 19 49967981 [T/G] NM_001145396,NM_153329 ALDH16A1,ALDH16A1 EXON Synonymous_V459V,Synonymous_V510V exm2253937 19 49967981 [T/G] NM_001145396,NM_153329 ALDH16A1,ALDH16A1 EXON Synonymous_V459V,Synonymous_V510V exm1490822 19 49969006 [G/C] NM_001145396,NM_153329 ALDH16A1,ALDH16A1 EXON Missense_P476R,Missense_P527R exm1490823 19 49969020 [A/G] NM_001145396,NM_153329 ALDH16A1,ALDH16A1 EXON Missense_V481I,Missense_V532I exm1490833 19 49969139 [C/G] NM_001145396,NM_153329 ALDH16A1,ALDH16A1 EXON Missense_E520D,Missense_E571D exm1490860 19 49971816 [T/C] NM_001145396,NM_153329 ALDH16A1,ALDH16A1 EXON Missense_V655A,Missense_V706A exm1490865 19 49972172 [T/C] NM_001145396,NM_153329 ALDH16A1,ALDH16A1 EXON Missense_R675W,Missense_R726W exm1490868 19 49972179 [A/G] NM_001145396,NM_153329 ALDH16A1,ALDH16A1 EXON Missense_H677R,Missense_H728R exm1490869 19 49973578 [A/G] NM_001145396,NM_153329 ALDH16A1,ALDH16A1 EXON Missense_E704K,Missense_E755K exm1490884 19 49977929 [A/G] NM_001459,NM_001204502,NM_001204503 FLT3LG,FLT3LG,FLT3LG EXON Synonymous_T11T,Synonymous_T11T,Synonymous_T11T exm1490900 19 49979789 [T/C] NM_001459,NM_001204502,NM_001204503 FLT3LG,FLT3LG,FLT3LG EXON Missense_T103M,Missense_T103M,Missense_T103M exm1946064 19 49983575 [G/C] NM_001459,NM_001204502,NM_001204503 FLT3LG,FLT3LG,FLT3LG EXON Missense_P168A,Missense_P168A,Missense_P168A exm1490923 19 49983818 [A/G] NM_001459,NM_001204502,NM_001204503 FLT3LG,FLT3LG,FLT3LG EXON Missense_V224I,Missense_V224I,Missense_V224I exm1490939 19 49993519 [A/G] NM_001270491,NM_012423,NR_073024,NR_026712 RPL13A,RPL13A,RPL13A,RPL13AP5 EXON Silent,Missense_G40D,Silent,Silent exm1490956 19 49994081 [A/G] NM_001270491,NM_012423,NR_073024,NR_026712 RPL13A,RPL13A,RPL13A,RPL13AP5 EXON Missense_R40H,Missense_R101H,Silent,Silent exm1490970 19 49994319 [T/C] NM_001270491,NM_012423,NR_073024,NR_026712 RPL13A,RPL13A,RPL13A,RPL13AP5 EXON Missense_A61V,Missense_A122V,Silent,Silent exm1490971 19 49994333 [A/G] NM_001270491,NM_012423,NR_073024,NR_026712 RPL13A,RPL13A,RPL13A,RPL13AP5 EXON Missense_V66M,Missense_V127M,Silent,Silent exm-rs2280401 19 50000009 [A/G] NM_001015 RPS11 Silent exm1491039 19 50017538 [G/C] NM_001136019,NM_004107 FCGRT,FCGRT EXON Missense_K132N,Missense_K132N exm1491043 19 50017696 [A/G] NM_001136019,NM_004107 FCGRT,FCGRT EXON Missense_R185H,Missense_R185H exm1491047 19 50027765 [A/G] NM_001136019,NM_004107 FCGRT,FCGRT EXON Synonymous_E201E,Synonymous_E201E exm1491052 19 50027871 [T/C] NM_001136019,NM_004107 FCGRT,FCGRT EXON Missense_R237W,Missense_R237W exm1491062 19 50028731 [A/T] NM_001136019,NM_004107 FCGRT,FCGRT EXON Missense_S297T,Missense_S297T exm1491063 19 50028734 [T/G] NM_001136019,NM_004107 FCGRT,FCGRT EXON Missense_V298L,Missense_V298L exm1491064 19 50028740 [A/G] NM_001136019,NM_004107 FCGRT,FCGRT EXON Missense_V300M,Missense_V300M exm1491066 19 50028758 [A/G] NM_001136019,NM_004107 FCGRT,FCGRT EXON Missense_G306S,Missense_G306S exm1491067 19 50028762 [T/C] NM_001136019,NM_004107 FCGRT,FCGRT EXON Missense_V307A,Missense_V307A exm1491071 19 50028828 [G/C] NM_001136019,NM_004107 FCGRT,FCGRT EXON Missense_P329R,Missense_P329R exm1491088 19 50031894 [A/C] NM_020650 RCN3 EXON Missense_D55E exm1491096 19 50037608 [G/C] NM_020650 RCN3 EXON Missense_G134A exm2272834 19 50038017 [T/C] NM_020650 RCN3 Silent exm1491099 19 50040307 [A/G] NM_020650 RCN3 EXON Missense_V155M exm1491103 19 50040353 [A/G] NM_020650 RCN3 EXON Missense_R170Q exm1491107 19 50040423 [A/C] NM_020650 RCN3 EXON Missense_H193Q exm1491111 19 50040454 [A/G] NM_020650 RCN3 EXON Missense_V204M exm1491120 19 50042435 [A/C] NM_020650 RCN3 EXON Synonymous_I226I exm1491128 19 50045861 [T/C] NM_020650 RCN3 EXON Missense_T244M exm1491130 19 50045878 [T/C] NM_020650 RCN3 EXON Missense_R250W exm1491136 19 50045979 [A/C] NM_020650 RCN3 EXON Missense_N283K exm1491148 19 50046438 [A/G] NM_020650 RCN3 EXON Missense_E319K exm1491162 19 50059652 [C/G] NM_001270960,NM_015953 NOSIP,NOSIP EXON Missense_E252D,Missense_E252D exm1491178 19 50060445 [A/G] NM_001270960,NM_015953 NOSIP,NOSIP EXON Missense_S107L,Missense_S107L exm1491186 19 50060482 [A/G] NM_001270960,NM_015953 NOSIP,NOSIP EXON Missense_R95W,Missense_R95W exm1491198 19 50063295 [A/C] NM_001270960,NM_015953 NOSIP,NOSIP EXON Synonymous_A24A,Synonymous_A24A exm1491200 19 50063880 [T/C] NM_001270960,NM_015953 NOSIP,NOSIP EXON Synonymous_T23T,Synonymous_T23T exm1491208 19 50086540 [T/C] NM_000951 PRRG2 EXON Missense_P22S exm1491214 19 50086907 [A/G] NM_000951 PRRG2 EXON Missense_R65Q exm1491215 19 50086918 [G/C] NM_000951 PRRG2 EXON Missense_E69Q exm1946179 19 50086931 [C/G] NM_000951 PRRG2 EXON Missense_S73C exm1491217 19 50086974 [A/G] NM_000951 PRRG2 EXON Synonymous_T87T exm1946180 19 50087197 [A/G] NM_000951 PRRG2 EXON Missense_N97D exm1491222 19 50091763 [A/G] NM_000951 PRRG2 EXON Missense_R104Q exm1491223 19 50091777 [T/A] NM_000951 PRRG2 EXON Missense_S109C exm1491225 19 50091798 [T/G] NM_000951 PRRG2 EXON Missense_G116C exm1491227 19 50093194 [C/G] NM_000951 PRRG2 EXON Missense_L159V exm1491231 19 50093248 [T/A] NM_000951 PRRG2 EXON Missense_T177S exm1491238 19 50093627 [A/G] NM_000951 PRRG2 Silent exm1491249 19 50097746 [A/G] NM_020719 PRR12 EXON Missense_A79T exm1491284 19 50098722 [T/G] NM_020719 PRR12 EXON Missense_G377V exm1491299 19 50099198 [A/G] NM_020719 PRR12 EXON Missense_G536S exm1491320 19 50099540 [T/C] NM_020719 PRR12 EXON Missense_P650S exm1946214 19 50100038 [A/G] NM_020719 PRR12 EXON Missense_A816T exm1491354 19 50100078 [A/G] NM_020719 PRR12 EXON Missense_R829H exm1491360 19 50100192 [A/G] NM_020719 PRR12 EXON Missense_R867H exm1491387 19 50100767 [T/C] NM_020719 PRR12 EXON Missense_L1059F exm1491394 19 50100846 [A/C] NM_020719 PRR12 EXON Missense_D1085A exm1491398 19 50100965 [A/G] NM_020719 PRR12 EXON Missense_V1125I exm1946226 19 50102659 [T/C] NM_020719 PRR12 EXON Missense_V1270A exm1491415 19 50102767 [T/C] NM_020719 PRR12 EXON Missense_P1306L exm1946227 19 50102785 [A/G] NM_020719 PRR12 EXON Missense_S1312N exm1491429 19 50103194 [T/C] NM_020719 PRR12 EXON Synonymous_P1448P exm1491466 19 50119293 [T/G] NM_020719 PRR12 EXON Missense_A1772S exm1491473 19 50119398 [A/G] NM_020719 PRR12 EXON Missense_G1807S exm1491501 19 50138992 [A/G] NM_006270 RRAS EXON Missense_R191W exm1491511 19 50139932 [T/C] NM_006270 RRAS EXON Missense_D133N exm1491515 19 50139967 [T/C] NM_006270 RRAS EXON Missense_K121R exm1491525 19 50140182 [A/G] NM_006270 RRAS EXON Synonymous_I81I exm1491527 19 50140300 [T/C] NM_006270 RRAS EXON Missense_I81V exm2229791 19 50140312 [T/C] NM_006270 RRAS EXON Missense_A77T exm1491534 19 50143211 [A/G] NM_006270 RRAS EXON Missense_F49L exm1491541 19 50148336 [A/G] NM_021228 SCAF1 EXON Missense_R18Q exm1491550 19 50149374 [A/G] NM_021228 SCAF1 EXON Missense_R59Q exm1491557 19 50149813 [T/G] NM_021228 SCAF1 EXON Missense_A98S exm1491565 19 50150066 [T/G] NM_021228 SCAF1 EXON Missense_A153S exm1491566 19 50150076 [T/C] NM_021228 SCAF1 EXON Missense_T156M exm1491570 19 50154190 [A/G] NM_021228 SCAF1 EXON Missense_G182R exm1491594 19 50154459 [C/G] NM_021228 SCAF1 EXON Missense_E271D exm1491660 19 50155970 [A/G] NM_021228 SCAF1 EXON Missense_G775E exm2253938 19 50156058 [T/C] NM_021228 SCAF1 EXON Synonymous_S804S exm1491674 19 50156290 [T/C] NM_021228 SCAF1 EXON Missense_R882W exm1491675 19 50156296 [A/C] NM_021228 SCAF1 EXON Missense_P884T exm1491676 19 50156329 [A/G] NM_021228 SCAF1 EXON Missense_T895A exm1491716 19 50157946 [T/C] NM_021228 SCAF1 EXON Missense_M1146T exm1491730 19 50161091 [A/G] NM_021228 SCAF1 EXON Missense_K1231R exm1491732 19 50161550 [A/G] NM_021228 SCAF1 EXON Missense_R1278H exm1491742 19 50162953 [T/C] NM_001197123,NM_001197126,NM_001571,NM_001197124,NM_001197125,NM_001197127,NR_045568,NM_001197128,NM_001197122 IRF3,IRF3,IRF3,IRF3,IRF3,IRF3,IRF3,IRF3,IRF3 EXON Synonymous_L377L,Synonymous_L266L,Synonymous_L412L,Synonymous_L285L,Synonymous_L266L,Synonymous_L139L,Silent,Synonymous_L139L,Missense_A418T exm1491744 19 50162974 [A/G] NM_001197123,NM_001197126,NM_001571,NM_001197124,NM_001197125,NM_001197127,NR_045568,NM_001197128,NM_001197122 IRF3,IRF3,IRF3,IRF3,IRF3,IRF3,IRF3,IRF3,IRF3 EXON Synonymous_S370S,Synonymous_S259S,Synonymous_S405S,Synonymous_S278S,Synonymous_S259S,Synonymous_S132S,Silent,Synonymous_S132S,Nonsense_R411X exm1491745 19 50162980 [A/G] NM_001197123,NM_001197126,NM_001571,NM_001197124,NM_001197125,NM_001197127,NR_045568,NM_001197128,NM_001197122 IRF3,IRF3,IRF3,IRF3,IRF3,IRF3,IRF3,IRF3,IRF3 EXON Synonymous_L368L,Synonymous_L257L,Synonymous_L403L,Synonymous_L276L,Synonymous_L257L,Synonymous_L130L,Silent,Synonymous_L130L,Missense_H409Y exm1491750 19 50163052 [G/C] NM_001197123,NM_001197126,NM_001571,NM_001197124,NM_001197125,NM_001197127,NR_045568,NM_001197128,NM_001197122 IRF3,IRF3,IRF3,IRF3,IRF3,IRF3,IRF3,IRF3,IRF3 EXON Synonymous_A344A,Synonymous_A233A,Synonymous_A379A,Synonymous_A252A,Synonymous_A233A,Synonymous_A106A,Silent,Synonymous_A106A,Missense_P385A exm1491753 19 50163981 [T/C] NM_001197123,NM_001197126,NM_001571,NM_001197124,NM_001197125,NM_001197127,NR_045568,NM_001197128,NM_001197122 IRF3,IRF3,IRF3,IRF3,IRF3,IRF3,IRF3,IRF3,IRF3 EXON Missense_V328M,Missense_V217M,Missense_V363M,Missense_V236M,Missense_V217M,Missense_V90M,Silent,Missense_V90M,Missense_R368H exm1491756 19 50164046 [T/C] NM_001197123,NM_001197126,NM_001571,NM_001197124,NM_001197125,NM_001197127,NR_045568,NM_001197128,NM_001197122 IRF3,IRF3,IRF3,IRF3,IRF3,IRF3,IRF3,IRF3,IRF3 EXON Missense_R306H,Missense_R195H,Missense_R341H,Missense_R214H,Missense_R195H,Missense_R68H,Silent,Missense_R68H,Synonymous_T346T exm1491769 19 50165360 [T/C] NM_001197123,NM_001197126,NM_001571,NM_001197124,NM_001197125,NM_001197127,NR_045568,NM_001197128,NM_001197122 IRF3,IRF3,IRF3,IRF3,IRF3,IRF3,IRF3,IRF3,IRF3 EXON Missense_R241Q,Missense_R130Q,Missense_R276Q,Silent,Missense_R130Q,Silent,Silent,Silent,Missense_R276Q exm1946335 19 50165760 [T/C] NM_001197123,NM_001197126,NM_001571,NM_001197124,NM_001197125,NM_001197127,NR_045568,NM_001197128,NM_001197122 IRF3,IRF3,IRF3,IRF3,IRF3,IRF3,IRF3,IRF3,IRF3 EXON Missense_S140G,Missense_S29G,Missense_S175G,Missense_S175G,Missense_S29G,Missense_S29G,Silent,Missense_S29G,Missense_S175G exm1491784 19 50165845 [G/C] NM_001197123,NM_001197126,NM_001571,NM_001197124,NM_001197125,NM_001197127,NR_045568,NM_001197128,NM_001197122 IRF3,IRF3,IRF3,IRF3,IRF3,IRF3,IRF3,IRF3,IRF3 EXON Missense_N111K,Silent,Missense_N146K,Missense_N146K,Silent,Silent,Silent,Silent,Missense_N146K exm1946338 19 50166473 [T/C] NM_001197123,NM_001197126,NM_001571,NM_001197124,NM_001197125,NM_001197127,NR_045568,NM_001197128,NM_001197122 IRF3,IRF3,IRF3,IRF3,IRF3,IRF3,IRF3,IRF3,IRF3 EXON Missense_N92S,Silent,Missense_N127S,Missense_N127S,Silent,Silent,Silent,Silent,Missense_N127S exm1491790 19 50166617 [T/A] NM_001197123,NM_001197126,NM_001571,NM_001197124,NM_001197125,NM_001197127,NR_045568,NM_001197128,NM_001197122 IRF3,IRF3,IRF3,IRF3,IRF3,IRF3,IRF3,IRF3,IRF3 EXON Missense_Y72F,Silent,Missense_Y107F,Missense_Y107F,Silent,Silent,Silent,Silent,Missense_Y107F exm1491792 19 50166650 [T/C] NM_001197123,NM_001197126,NM_001571,NM_001197124,NM_001197125,NM_001197127,NR_045568,NM_001197128,NM_001197122 IRF3,IRF3,IRF3,IRF3,IRF3,IRF3,IRF3,IRF3,IRF3 EXON Missense_R61Q,Silent,Missense_R96Q,Missense_R96Q,Silent,Silent,Silent,Silent,Missense_R96Q exm1491795 19 50166714 [T/C] NM_001197123,NM_001197126,NM_001571,NM_001197124,NM_001197125,NM_001197127,NR_045568,NM_001197128,NM_001197122 IRF3,IRF3,IRF3,IRF3,IRF3,IRF3,IRF3,IRF3,IRF3 EXON Missense_T40A,Silent,Missense_T75A,Missense_T75A,Silent,Silent,Silent,Silent,Missense_T75A exm1491798 19 50167726 [C/G] NM_001197123,NM_001197126,NM_001571,NM_001197124,NM_001197125,NM_001197127,NR_045568,NM_001197128,NM_001197122 IRF3,IRF3,IRF3,IRF3,IRF3,IRF3,IRF3,IRF3,IRF3 EXON Missense_V12L,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm1491807 19 50169081 [A/G] NM_001197123,NM_001197126,NM_001571,NM_001197124,NM_001197125,NM_001197127,NR_045568,NM_001197128,NM_001197122,NM_001040668,NM_138639 IRF3,IRF3,IRF3,IRF3,IRF3,IRF3,IRF3,IRF3,IRF3,BCL2L12,BCL2L12 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_M1V,Missense_M1V exm1491815 19 50169205 [T/C] NM_001040668,NM_138639 BCL2L12,BCL2L12 EXON Missense_A42V,Missense_A42V exm1491817 19 50169212 [T/G] NM_001040668,NM_138639 BCL2L12,BCL2L12 EXON Nonsense_Y44X,Nonsense_Y44X exm1491819 19 50169220 [T/G] NM_001040668,NM_138639 BCL2L12,BCL2L12 EXON Missense_G47V,Missense_G47V exm1491828 19 50170280 [T/C] NM_001040668,NM_138639 BCL2L12,BCL2L12 EXON Missense_P121S,Missense_P122S exm1491829 19 50170313 [T/C] NM_001040668,NM_138639 BCL2L12,BCL2L12 EXON Missense_R132C,Missense_R133C exm1491835 19 50170374 [A/G] NM_001040668,NM_138639 BCL2L12,BCL2L12 EXON Missense_R152Q,Missense_R153Q exm1491838 19 50170394 [T/C] NM_001040668,NM_138639 BCL2L12,BCL2L12 EXON Missense_R159C,Missense_R160C exm1491839 19 50172125 [T/G] NM_001040668,NM_138639 BCL2L12,BCL2L12 EXON Missense_F173V,Missense_F174V exm1491840 19 50172127 [G/C] NM_001040668,NM_138639 BCL2L12,BCL2L12 EXON Missense_F173L,Missense_F174L exm1491851 19 50172322 [T/C] NM_001040668,NM_138639 BCL2L12,BCL2L12 EXON Missense_R210W,Missense_R211W exm1491911 19 50188202 [A/G] NM_001536,NM_001207042,NR_033397,NM_198318 PRMT1,PRMT1,PRMT1,PRMT1 EXON Missense_D223N,Silent,Silent,Missense_D205N exm1491918 19 50189499 [T/C] NM_001536,NM_001207042,NR_033397,NM_198318 PRMT1,PRMT1,PRMT1,PRMT1 EXON Synonymous_T303T,Synonymous_T217T,Silent,Synonymous_T285T exm1491936 19 50193437 [A/C] NM_001101340 ADM5 EXON Missense_A50E exm1491951 19 50195648 [T/C] NM_001199752,NM_152359,NM_001199753,NM_001136052 CPT1C,CPT1C,CPT1C,CPT1C EXON Missense_W47R,Missense_W47R,Missense_W47R,Missense_W47R exm1491955 19 50200641 [A/G] NM_001199752,NM_152359,NM_001199753,NM_001136052 CPT1C,CPT1C,CPT1C,CPT1C EXON Missense_S67N,Missense_S67N,Missense_S67N,Missense_S67N exm1491963 19 50203950 [A/C] NM_001199752,NM_152359,NM_001199753,NM_001136052 CPT1C,CPT1C,CPT1C,CPT1C EXON Missense_Q97H,Missense_Q97H,Missense_Q97H,Missense_Q97H exm1491968 19 50204004 [A/G] NM_001199752,NM_152359,NM_001199753,NM_001136052 CPT1C,CPT1C,CPT1C,CPT1C EXON Nonsense_W115X,Nonsense_W115X,Nonsense_W115X,Nonsense_W115X exm1491987 19 50207994 [T/C] NM_001199752,NM_152359,NM_001199753,NM_001136052 CPT1C,CPT1C,CPT1C,CPT1C EXON Missense_Y241H,Missense_Y241H,Missense_Y241H,Missense_Y241H exm1492003 19 50209247 [A/G] NM_001199752,NM_152359,NM_001199753,NM_001136052 CPT1C,CPT1C,CPT1C,CPT1C EXON Missense_R349Q,Missense_R349Q,Missense_R349Q,Missense_R338Q exm1492010 19 50209547 [T/C] NM_001199752,NM_152359,NM_001199753,NM_001136052 CPT1C,CPT1C,CPT1C,CPT1C EXON Missense_A407V,Missense_A407V,Missense_A407V,Missense_A396V exm1492026 19 50212071 [A/G] NM_001199752,NM_152359,NM_001199753,NM_001136052 CPT1C,CPT1C,CPT1C,CPT1C EXON Missense_R514Q,Missense_R514Q,Missense_R514Q,Missense_R503Q exm1492033 19 50213718 [A/G] NM_001199752,NM_152359,NM_001199753,NM_001136052 CPT1C,CPT1C,CPT1C,CPT1C EXON Missense_A570T,Missense_A570T,Missense_A570T,Missense_A559T exm1492045 19 50215093 [A/G] NM_001199752,NM_152359,NM_001199753,NM_001136052 CPT1C,CPT1C,CPT1C,CPT1C EXON Missense_V632M,Missense_V632M,Missense_V632M,Missense_V621M exm1492046 19 50215114 [A/G] NM_001199752,NM_152359,NM_001199753,NM_001136052 CPT1C,CPT1C,CPT1C,CPT1C EXON Missense_A639T,Missense_A639T,Missense_A639T,Missense_A628T exm1492053 19 50216032 [C/G] NM_001199752,NM_152359,NM_001199753,NM_001136052 CPT1C,CPT1C,CPT1C,CPT1C EXON Missense_P687A,Missense_P687A,Missense_P687A,Missense_P676A exm1492054 19 50216050 [A/C] NM_001199752,NM_152359,NM_001199753,NM_001136052 CPT1C,CPT1C,CPT1C,CPT1C EXON Missense_L693M,Missense_L693M,Missense_L693M,Missense_L682M exm1492055 19 50216065 [A/G] NM_001199752,NM_152359,NM_001199753,NM_001136052 CPT1C,CPT1C,CPT1C,CPT1C EXON Missense_N698D,Missense_N698D,Missense_N698D,Missense_N687D exm1492062 19 50216842 [A/G] NM_001199752,NM_152359,NM_001199753,NM_001136052 CPT1C,CPT1C,CPT1C,CPT1C EXON Missense_M798V,Missense_M798V,Missense_M798V,Missense_M787V exm-rs3810265 19 50223266 [A/G] exm1492069 19 50243103 [A/G] NM_021733 TSKS EXON Missense_T570M exm1492079 19 50243406 [G/C] NM_021733 TSKS EXON Missense_R511T exm1492081 19 50245253 [A/C] NM_021733 TSKS EXON Missense_E462D exm1492090 19 50247641 [A/G] NM_021733 TSKS EXON Missense_S403F exm1492091 19 50247645 [A/C] NM_021733 TSKS EXON Missense_V402L exm1492094 19 50248501 [T/C] NM_021733 TSKS EXON Missense_D382G exm1492096 19 50248535 [A/G] NM_021733 TSKS EXON Missense_R371W exm1492097 19 50248556 [T/C] NM_021733 TSKS EXON Missense_G364S exm1492102 19 50248646 [A/C] NM_021733 TSKS EXON Missense_V334L exm1492113 19 50249905 [T/C] NM_021733 TSKS EXON Missense_S272G exm1492118 19 50249950 [T/C] NM_021733 TSKS EXON Missense_E257K exm1492124 19 50250707 [T/C] NM_021733 TSKS EXON Missense_R201Q exm2275102 19 50251386 [A/G] NM_021733 TSKS EXON Missense_R179W exm1492125 19 50251422 [T/C] NM_021733 TSKS EXON Missense_E167K exm1492128 19 50251645 [T/C] NM_021733 TSKS EXON Missense_V161M exm1492129 19 50251659 [T/C] NM_021733 TSKS EXON Missense_R156Q exm1492133 19 50251701 [T/C] NM_021733 TSKS EXON Missense_R142H exm1492135 19 50251725 [A/C] NM_021733 TSKS EXON Missense_S134I exm1492140 19 50265289 [A/G] NM_021733 TSKS EXON Missense_P124L exm1492143 19 50265371 [T/C] NM_021733 TSKS EXON Missense_G97R exm1492146 19 50265395 [T/C] NM_021733 TSKS EXON Missense_A89T exm1492148 19 50265416 [T/C] NM_021733 TSKS EXON Missense_V82M exm1492149 19 50265430 [A/G] NM_021733 TSKS EXON Missense_S77L exm1492155 19 50266395 [T/C] NM_021733 TSKS EXON Missense_R37Q exm1492159 19 50266450 [T/C] NM_021733 TSKS EXON Missense_G19R exm1492192 19 50298935 [A/G] NM_014203,NM_130787 AP2A1,AP2A1 EXON Missense_V252I,Missense_V252I exm1492200 19 50302157 [T/G] NM_014203,NM_130787 AP2A1,AP2A1 EXON Missense_A305S,Missense_A305S exm1492239 19 50305091 [A/G] NM_014203,NM_130787 AP2A1,AP2A1 EXON Missense_R633K,Missense_R633K exm1492261 19 50306549 [A/G] NM_014203,NM_130787 AP2A1,AP2A1 EXON Missense_M776V,Missense_M754V exm1492265 19 50308918 [A/G] NM_014203,NM_130787 AP2A1,AP2A1 EXON Synonymous_R845R,Synonymous_R823R exm1492276 19 50309974 [A/G] NM_014203,NM_130787 AP2A1,AP2A1 EXON Missense_V965I,Missense_V943I exm1492282 19 50310427 [T/G] NM_001171937,NR_033269,NM_025129 FUZ,FUZ,FUZ EXON Missense_A377D,Silent,Missense_A413D exm1492284 19 50310454 [T/C] NM_001171937,NR_033269,NM_025129 FUZ,FUZ,FUZ EXON Missense_R368Q,Silent,Missense_R404Q exm1492292 19 50310584 [T/G] NM_001171937,NR_033269,NM_025129 FUZ,FUZ,FUZ EXON Missense_L325M,Silent,Missense_L361M exm1492293 19 50310605 [T/C] NM_001171937,NR_033269,NM_025129 FUZ,FUZ,FUZ EXON Missense_D318N,Silent,Missense_D354N exm1492327 19 50312801 [T/C] NM_001171937,NR_033269,NM_025129 FUZ,FUZ,FUZ EXON Missense_G139D,Silent,Missense_G175D exm1492349 19 50316264 [A/C] NM_001171937,NR_033269,NM_025129 FUZ,FUZ,FUZ EXON Missense_A34S,Silent,Missense_A34S exm1492367 19 50321844 [T/C] NM_030973 MED25 EXON Missense_P51S exm1492379 19 50322495 [G/C] NM_030973 MED25 EXON Missense_Q83E exm1492398 19 50333119 [T/C] NM_030973 MED25 EXON Missense_P201L exm1492401 19 50333155 [T/C] NM_030973 MED25 EXON Missense_V213A exm1492420 19 50334047 [T/C] NM_030973 MED25 EXON Missense_A335V exm1492443 19 50335628 [G/C] NM_030973 MED25 EXON Missense_L480V exm1492463 19 50339201 [T/C] NM_030973 MED25 EXON Missense_P655L exm1492516 19 50360233 [T/C] NM_017432 PTOV1 EXON Missense_A187V exm1492531 19 50360989 [A/G] NM_017432 PTOV1 EXON Missense_I252V exm1492532 19 50360992 [A/G] NM_017432 PTOV1 EXON Missense_V253I exm1492585 19 50364549 [T/C] NM_007254 PNKP EXON Missense_E508K exm1492586 19 50364558 [A/G] NM_007254 PNKP EXON Synonymous_L505L exm1492592 19 50364713 [T/C] NM_007254 PNKP EXON Missense_G481S exm1492593 19 50364721 [A/C] NM_007254 PNKP EXON Missense_V478G exm1492595 19 50364742 [A/T] NM_007254 PNKP EXON Missense_H471L exm1492597 19 50364757 [A/G] NM_007254 PNKP EXON Missense_M466T exm1492605 19 50364866 [T/C] NM_007254 PNKP EXON Missense_R462Q exm1492634 19 50365626 [A/G] NM_007254 PNKP Silent exm1946721 19 50365830 [A/G] NM_007254 PNKP EXON Missense_R301W exm1492643 19 50365838 [A/G] NM_007254 PNKP EXON Missense_A298V exm2253940 19 50367293 [A/G] NM_007254 PNKP EXON Synonymous_R224R exm1492664 19 50367315 [G/C] NM_007254 PNKP EXON Missense_T217S exm1492667 19 50367483 [T/G] NM_007254 PNKP EXON Missense_P197T exm1492668 19 50367485 [T/C] NM_007254 PNKP EXON Missense_Y196C exm1492670 19 50367493 [T/C] NM_007254 PNKP EXON Synonymous_R193R exm1492673 19 50367621 [T/G] NM_007254 PNKP EXON Missense_R180S exm1492683 19 50368466 [T/C] NM_007254 PNKP EXON Missense_R139H exm1492695 19 50369666 [A/G] NM_007254 PNKP EXON Missense_A63V exm1492712 19 50374804 [T/C] NM_001098633,NM_032375,NM_001098632 AKT1S1,AKT1S1,AKT1S1 EXON Synonymous_P209P,Synonymous_P229P,Synonymous_P209P exm1946763 19 50375070 [A/G] NM_001098633,NM_032375,NM_001098632 AKT1S1,AKT1S1,AKT1S1 EXON Synonymous_D152D,Synonymous_D172D,Synonymous_D152D exm1492723 19 50375123 [T/C] NM_001098633,NM_032375,NM_001098632 AKT1S1,AKT1S1,AKT1S1 EXON Missense_A135T,Missense_A155T,Missense_A135T exm1492728 19 50376237 [C/G] NM_001098633,NM_032375,NM_001098632 AKT1S1,AKT1S1,AKT1S1 EXON Missense_D106H,Missense_D126H,Missense_D106H exm1492733 19 50376317 [A/G] NM_001098633,NM_032375,NM_001098632 AKT1S1,AKT1S1,AKT1S1 EXON Missense_A79V,Missense_A99V,Missense_A79V exm1492734 19 50376326 [T/C] NM_001098633,NM_032375,NM_001098632 AKT1S1,AKT1S1,AKT1S1 EXON Missense_R76Q,Missense_R96Q,Missense_R76Q exm2268204 19 50379053 [A/G] NM_001098633,NM_032375,NM_001098632 AKT1S1,AKT1S1,AKT1S1 Silent,Silent,Silent exm1492768 19 50383591 [A/G] NM_024682,NM_001168222 TBC1D17,TBC1D17 EXON Missense_D84G,Missense_D51G exm1492771 19 50383636 [T/C] NM_024682,NM_001168222 TBC1D17,TBC1D17 EXON Missense_L99P,Missense_L66P exm2229809 19 50384677 [T/C] NM_024682,NM_001168222 TBC1D17,TBC1D17 EXON Missense_R158C,Missense_R125C exm1492786 19 50384713 [T/C] NM_024682,NM_001168222 TBC1D17,TBC1D17 EXON Missense_R170C,Missense_R137C exm1492789 19 50385303 [T/C] NM_024682,NM_001168222 TBC1D17,TBC1D17 EXON Missense_P178L,Missense_P145L exm1492793 19 50385337 [A/C] NM_024682,NM_001168222 TBC1D17,TBC1D17 EXON Missense_H189Q,Missense_H156Q exm1492797 19 50385368 [T/C] NM_024682,NM_001168222 TBC1D17,TBC1D17 EXON Missense_H200Y,Missense_H167Y exm1492810 19 50385611 [G/C] NM_024682,NM_001168222 TBC1D17,TBC1D17 EXON Missense_P251R,Missense_P218R exm1492823 19 50386090 [A/G] NM_024682,NM_001168222 TBC1D17,TBC1D17 EXON Missense_V290M,Missense_V257M exm2275104 19 50386105 [A/C] NM_024682,NM_001168222 TBC1D17,TBC1D17 EXON Missense_R295S,Missense_R262S exm1492831 19 50386136 [A/G] NM_024682,NM_001168222 TBC1D17,TBC1D17 EXON Missense_R305Q,Missense_R272Q exm1492834 19 50386150 [T/G] NM_024682,NM_001168222 TBC1D17,TBC1D17 Silent,Silent exm1492853 19 50387543 [A/C] NM_024682,NM_001168222 TBC1D17,TBC1D17 EXON Missense_K387T,Missense_K354T exm1492871 19 50391003 [A/G] NM_024682,NM_001168222 TBC1D17,TBC1D17 EXON Missense_N524S,Missense_N491S exm1492885 19 50392966 [T/G] NR_047577,NM_001258017,NM_172374,NM_001258018,NM_152899 IL4I1,IL4I1,IL4I1,IL4I1,IL4I1 EXON Silent,Missense_L577F,Missense_L577F,Missense_L577F,Missense_L555F exm1492888 19 50393019 [A/C] NR_047577,NM_001258017,NM_172374,NM_001258018,NM_152899 IL4I1,IL4I1,IL4I1,IL4I1,IL4I1 EXON Silent,Missense_S560A,Missense_S560A,Missense_S560A,Missense_S538A exm1492894 19 50393061 [T/C] NR_047577,NM_001258017,NM_172374,NM_001258018,NM_152899 IL4I1,IL4I1,IL4I1,IL4I1,IL4I1 EXON Silent,Missense_M546V,Missense_M546V,Missense_M546V,Missense_M524V exm2229810 19 50393130 [A/C] NR_047577,NM_001258017,NM_172374,NM_001258018,NM_152899 IL4I1,IL4I1,IL4I1,IL4I1,IL4I1 EXON Silent,Missense_A523S,Missense_A523S,Missense_A523S,Missense_A501S exm1492905 19 50393285 [T/C] NR_047577,NM_001258017,NM_172374,NM_001258018,NM_152899 IL4I1,IL4I1,IL4I1,IL4I1,IL4I1 EXON Silent,Missense_H471R,Missense_H471R,Missense_H471R,Missense_H449R exm1492932 19 50394328 [T/C] NR_047577,NM_001258017,NM_172374,NM_001258018,NM_152899 IL4I1,IL4I1,IL4I1,IL4I1,IL4I1 EXON Silent,Missense_A247T,Missense_A247T,Missense_A247T,Missense_A225T exm1492940 19 50394693 [A/G] NR_047577,NM_001258017,NM_172374,NM_001258018,NM_152899 IL4I1,IL4I1,IL4I1,IL4I1,IL4I1 EXON Silent,Missense_A224V,Missense_A224V,Missense_A224V,Missense_A202V exm1492948 19 50397647 [T/C] NR_047577,NM_001258017,NM_172374,NM_001258018,NM_152899 IL4I1,IL4I1,IL4I1,IL4I1,IL4I1 EXON Silent,Missense_V171M,Missense_V171M,Missense_V171M,Missense_V149M exm1492955 19 50398373 [A/G] NR_047577,NM_001258017,NM_172374,NM_001258018,NM_152899 IL4I1,IL4I1,IL4I1,IL4I1,IL4I1 EXON Silent,Missense_T128M,Missense_T128M,Missense_T128M,Missense_T106M exm1492957 19 50398416 [T/C] NR_047577,NM_001258017,NM_172374,NM_001258018,NM_152899 IL4I1,IL4I1,IL4I1,IL4I1,IL4I1 EXON Silent,Missense_N114D,Missense_N114D,Missense_N114D,Missense_N92D exm1492964 19 50399161 [A/G] NR_047577,NM_001258017,NM_172374,NM_001258018,NM_152899 IL4I1,IL4I1,IL4I1,IL4I1,IL4I1 EXON Silent,Missense_R77W,Missense_R77W,Missense_R77W,Missense_R55W exm1492969 19 50399241 [T/C] NR_047577,NM_001258017,NM_172374,NM_001258018,NM_152899 IL4I1,IL4I1,IL4I1,IL4I1,IL4I1 EXON Silent,Missense_R50H,Missense_R50H,Missense_R50H,Missense_R28H exm2229814 19 50404965 [T/C] NR_047577,NM_001258017,NM_172374,NM_001258018 IL4I1,IL4I1,IL4I1,IL4I1 EXON Silent,Missense_D4N,Missense_D4N,Missense_D4N exm1493004 19 50411728 [T/C] NR_047577,NM_001258017,NM_172374,NM_001258018,NM_016553,NM_001193357,NM_012346,NM_153719,NM_153718 IL4I1,IL4I1,IL4I1,IL4I1,NUP62,NUP62,NUP62,NUP62,NUP62 EXON Silent,Silent,Silent,Silent,Missense_R446H,Missense_R446H,Missense_R446H,Missense_R446H,Missense_R446H exm1493011 19 50411829 [A/C] NR_047577,NM_001258017,NM_172374,NM_001258018,NM_016553,NM_001193357,NM_012346,NM_153719,NM_153718 IL4I1,IL4I1,IL4I1,IL4I1,NUP62,NUP62,NUP62,NUP62,NUP62 EXON Silent,Silent,Silent,Silent,Missense_E412D,Missense_E412D,Missense_E412D,Missense_E412D,Missense_E412D exm1493023 19 50412113 [T/C] NR_047577,NM_001258017,NM_172374,NM_001258018,NM_016553,NM_001193357,NM_012346,NM_153719,NM_153718 IL4I1,IL4I1,IL4I1,IL4I1,NUP62,NUP62,NUP62,NUP62,NUP62 EXON Silent,Silent,Silent,Silent,Missense_A318T,Missense_A318T,Missense_A318T,Missense_A318T,Missense_A318T exm1493029 19 50412217 [G/C] NR_047577,NM_001258017,NM_172374,NM_001258018,NM_016553,NM_001193357,NM_012346,NM_153719,NM_153718 IL4I1,IL4I1,IL4I1,IL4I1,NUP62,NUP62,NUP62,NUP62,NUP62 EXON Silent,Silent,Silent,Silent,Missense_S283T,Missense_S283T,Missense_S283T,Missense_S283T,Missense_S283T exm1493034 19 50412230 [T/C] NR_047577,NM_001258017,NM_172374,NM_001258018,NM_016553,NM_001193357,NM_012346,NM_153719,NM_153718 IL4I1,IL4I1,IL4I1,IL4I1,NUP62,NUP62,NUP62,NUP62,NUP62 EXON Silent,Silent,Silent,Silent,Missense_A279T,Missense_A279T,Missense_A279T,Missense_A279T,Missense_A279T exm1493035 19 50412245 [T/C] NR_047577,NM_001258017,NM_172374,NM_001258018,NM_016553,NM_001193357,NM_012346,NM_153719,NM_153718 IL4I1,IL4I1,IL4I1,IL4I1,NUP62,NUP62,NUP62,NUP62,NUP62 EXON Silent,Silent,Silent,Silent,Missense_A274T,Missense_A274T,Missense_A274T,Missense_A274T,Missense_A274T exm1493040 19 50412365 [T/C] NR_047577,NM_001258017,NM_172374,NM_001258018,NM_016553,NM_001193357,NM_012346,NM_153719,NM_153718 IL4I1,IL4I1,IL4I1,IL4I1,NUP62,NUP62,NUP62,NUP62,NUP62 EXON Silent,Silent,Silent,Silent,Missense_T234A,Missense_T234A,Missense_T234A,Missense_T234A,Missense_T234A exm1493045 19 50412424 [A/G] NR_047577,NM_001258017,NM_172374,NM_001258018,NM_016553,NM_001193357,NM_012346,NM_153719,NM_153718 IL4I1,IL4I1,IL4I1,IL4I1,NUP62,NUP62,NUP62,NUP62,NUP62 EXON Silent,Silent,Silent,Silent,Missense_I214T,Missense_I214T,Missense_I214T,Missense_I214T,Missense_I214T exm1493053 19 50412505 [A/G] NR_047577,NM_001258017,NM_172374,NM_001258018,NM_016553,NM_001193357,NM_012346,NM_153719,NM_153718 IL4I1,IL4I1,IL4I1,IL4I1,NUP62,NUP62,NUP62,NUP62,NUP62 EXON Silent,Silent,Silent,Silent,Missense_T187M,Missense_T187M,Missense_T187M,Missense_T187M,Missense_T187M exm1493059 19 50412571 [A/G] NR_047577,NM_001258017,NM_172374,NM_001258018,NM_016553,NM_001193357,NM_012346,NM_153719,NM_153718 IL4I1,IL4I1,IL4I1,IL4I1,NUP62,NUP62,NUP62,NUP62,NUP62 EXON Silent,Silent,Silent,Silent,Missense_T165M,Missense_T165M,Missense_T165M,Missense_T165M,Missense_T165M exm1493062 19 50412650 [T/C] NR_047577,NM_001258017,NM_172374,NM_001258018,NM_016553,NM_001193357,NM_012346,NM_153719,NM_153718 IL4I1,IL4I1,IL4I1,IL4I1,NUP62,NUP62,NUP62,NUP62,NUP62 EXON Silent,Silent,Silent,Silent,Missense_G139S,Missense_G139S,Missense_G139S,Missense_G139S,Missense_G139S exm1493069 19 50412728 [T/C] NR_047577,NM_001258017,NM_172374,NM_001258018,NM_016553,NM_001193357,NM_012346,NM_153719,NM_153718 IL4I1,IL4I1,IL4I1,IL4I1,NUP62,NUP62,NUP62,NUP62,NUP62 EXON Silent,Silent,Silent,Silent,Missense_G113S,Missense_G113S,Missense_G113S,Missense_G113S,Missense_G113S exm1493080 19 50412875 [T/G] NR_047577,NM_001258017,NM_172374,NM_001258018,NM_016553,NM_001193357,NM_012346,NM_153719,NM_153718 IL4I1,IL4I1,IL4I1,IL4I1,NUP62,NUP62,NUP62,NUP62,NUP62 EXON Silent,Silent,Silent,Silent,Missense_T64P,Missense_T64P,Missense_T64P,Missense_T64P,Missense_T64P exm1493081 19 50412877 [A/G] NR_047577,NM_001258017,NM_172374,NM_001258018,NM_016553,NM_001193357,NM_012346,NM_153719,NM_153718 IL4I1,IL4I1,IL4I1,IL4I1,NUP62,NUP62,NUP62,NUP62,NUP62 EXON Silent,Silent,Silent,Silent,Missense_A63V,Missense_A63V,Missense_A63V,Missense_A63V,Missense_A63V exm1493105 19 50435753 [C/G] NM_012068,NM_001193646 ATF5,ATF5 EXON Missense_P85A,Missense_P85A exm1493110 19 50435862 [T/C] NM_012068,NM_001193646 ATF5,ATF5 EXON Missense_P121L,Missense_P121L exm1493144 19 50436119 [T/C] NM_012068,NM_001193646 ATF5,ATF5 EXON Nonsense_R207X,Nonsense_R207X exm1493156 19 50436242 [T/C] NM_012068,NM_001193646 ATF5,ATF5 EXON Missense_R248C,Missense_R248C exm1946878 19 50436269 [A/G] NM_012068,NM_001193646 ATF5,ATF5 EXON Missense_V257M,Missense_V257M exm1493160 19 50436285 [A/G] NM_012068,NM_001193646 ATF5,ATF5 EXON Missense_Q262R,Missense_Q262R exm1493162 19 50436324 [A/G] NM_012068,NM_001193646,NR_039906 ATF5,ATF5,MIR4751 EXON Missense_R275Q,Missense_R275Q,Silent exm1946883 19 50453406 [A/G] NM_052884,NM_001135163 SIGLEC11,SIGLEC11 EXON Nonsense_Q640X,Nonsense_Q544X exm1493179 19 50453464 [C/G] NM_052884,NM_001135163 SIGLEC11,SIGLEC11 EXON Missense_S620R,Missense_S524R exm1493180 19 50455180 [T/C] NM_052884,NM_001135163 SIGLEC11,SIGLEC11 EXON Missense_D600N,Missense_D504N exm1946889 19 50455562 [C/G] NM_052884,NM_001135163 SIGLEC11,SIGLEC11 EXON Missense_V581L,Missense_V485L exm1493184 19 50455583 [T/C] NM_052884,NM_001135163 SIGLEC11,SIGLEC11 EXON Missense_A574T,Missense_A478T exm2273574 19 50479999 [A/G] NM_016440,NM_001025778 VRK3,VRK3 EXON Silent,Silent exm1946944 19 50484256 [A/G] NM_016440,NM_001025778 VRK3,VRK3 EXON Missense_P411L,Missense_P361L exm1493319 19 50491735 [T/C] NM_016440,NM_001025778 VRK3,VRK3 EXON Missense_S371G,Missense_S321G exm1493326 19 50492971 [A/C] NM_016440,NM_001025778 VRK3,VRK3 EXON Missense_A341S,Missense_A291S exm1493328 19 50492994 [T/C] NM_016440,NM_001025778 VRK3,VRK3 EXON Missense_Y333C,Missense_Y283C exm1493330 19 50493004 [G/C] NM_016440,NM_001025778 VRK3,VRK3 EXON Missense_A330P,Missense_A280P exm1493333 19 50493019 [A/C] NM_016440,NM_001025778 VRK3,VRK3 EXON Missense_A325S,Missense_A275S exm1493335 19 50496145 [A/G] NM_016440,NM_001025778 VRK3,VRK3 EXON Missense_I312T,Missense_I262T exm1493336 19 50496146 [T/A] NM_016440,NM_001025778 VRK3,VRK3 EXON Missense_I312F,Missense_I262F exm1946961 19 50496169 [A/T] NM_016440,NM_001025778 VRK3,VRK3 EXON Missense_H304L,Missense_H254L exm1493338 19 50496203 [T/C] NM_016440,NM_001025778 VRK3,VRK3 EXON Missense_A293T,Missense_A243T exm1493342 19 50498078 [T/C] NM_016440,NM_001025778 VRK3,VRK3 EXON Missense_C288Y,Missense_C238Y exm1493346 19 50498138 [A/G] NM_016440,NM_001025778 VRK3,VRK3 EXON Missense_S268L,Missense_S218L exm1946969 19 50498508 [A/G] NM_016440,NM_001025778 VRK3,VRK3 EXON Missense_S235L,Missense_S185L exm1493362 19 50504097 [T/C] NM_016440,NM_001025778 VRK3,VRK3 EXON Missense_T188A,Missense_T138A exm1493364 19 50510862 [A/G] NM_016440,NM_001025778 VRK3,VRK3 EXON Missense_F171L,Missense_F121L exm1493367 19 50510951 [T/C] NM_016440,NM_001025778 VRK3,VRK3 EXON Missense_K141R,Missense_K91R exm1493369 19 50510991 [A/C] NM_016440,NM_001025778 VRK3,VRK3 EXON Missense_C128G,Missense_C78G exm2229817 19 50510999 [T/A] NM_016440,NM_001025778 VRK3,VRK3 EXON Missense_K125M,Missense_K75M exm2229818 19 50511000 [T/C] NM_016440,NM_001025778 VRK3,VRK3 EXON Missense_K125E,Missense_K75E exm1493371 19 50511060 [T/G] NM_016440,NM_001025778 VRK3,VRK3 EXON Missense_P105T,Missense_P55T exm1493375 19 50512492 [T/C] NM_016440,NM_001025778 VRK3,VRK3 Silent,Silent exm1493378 19 50512606 [A/G] NM_016440,NM_001025778 VRK3,VRK3 EXON Missense_S59F,Silent exm1493379 19 50512618 [T/C] NM_016440,NM_001025778 VRK3,VRK3 EXON Missense_S55N,Silent exm1946985 19 50519404 [A/G] NM_016440,NM_001025778 VRK3,VRK3 EXON Missense_P6S,Missense_P6S exm1493394 19 50542478 [A/G] NM_015428,NM_001006656 ZNF473,ZNF473 EXON Missense_G24R,Missense_G24R exm1493401 19 50545025 [A/G] NM_015428,NM_001006656 ZNF473,ZNF473 EXON Missense_S59G,Missense_S59G exm1493402 19 50545070 [A/G] NM_015428,NM_001006656 ZNF473,ZNF473 EXON Missense_S74G,Missense_S74G exm1493403 19 50547945 [A/G] NM_015428,NM_001006656 ZNF473,ZNF473 EXON Missense_N82S,Missense_N82S exm1493408 19 50548043 [A/G] NM_015428,NM_001006656 ZNF473,ZNF473 EXON Missense_A115T,Missense_A115T exm1493411 19 50548169 [A/G] NM_015428,NM_001006656 ZNF473,ZNF473 EXON Missense_S157G,Missense_S157G exm1493412 19 50548187 [A/T] NM_015428,NM_001006656 ZNF473,ZNF473 EXON Missense_S163T,Missense_S163T exm1493413 19 50548191 [T/C] NM_015428,NM_001006656 ZNF473,ZNF473 EXON Missense_T164M,Missense_T164M exm1493423 19 50548367 [T/C] NM_015428,NM_001006656 ZNF473,ZNF473 EXON Missense_R223C,Missense_R223C exm1493424 19 50548368 [A/G] NM_015428,NM_001006656 ZNF473,ZNF473 EXON Missense_R223H,Missense_R223H exm1493426 19 50548443 [A/G] NM_015428,NM_001006656 ZNF473,ZNF473 EXON Missense_R248Q,Missense_R248Q exm1493427 19 50548467 [T/C] NM_015428,NM_001006656 ZNF473,ZNF473 EXON Missense_P256L,Missense_P256L exm1493434 19 50548626 [A/G] NM_015428,NM_001006656 ZNF473,ZNF473 EXON Missense_E309G,Missense_E309G exm1493441 19 50548761 [T/C] NM_015428,NM_001006656 ZNF473,ZNF473 EXON Missense_A354V,Missense_A354V exm2229821 19 50548803 [T/C] NM_015428,NM_001006656 ZNF473,ZNF473 EXON Missense_T368I,Missense_T368I exm2253943 19 50549005 [A/G] NM_015428,NM_001006656 ZNF473,ZNF473 EXON Synonymous_E435E,Synonymous_E435E exm2229822 19 50549016 [G/C] NM_015428,NM_001006656 ZNF473,ZNF473 EXON Missense_A439G,Missense_A439G exm1493470 19 50549279 [A/G] NM_015428,NM_001006656 ZNF473,ZNF473 EXON Missense_G527S,Missense_G527S exm1493472 19 50549304 [A/G] NM_015428,NM_001006656 ZNF473,ZNF473 EXON Missense_S535N,Missense_S535N exm1947003 19 50549441 [A/G] NM_015428,NM_001006656 ZNF473,ZNF473 EXON Missense_E581K,Missense_E581K exm1493479 19 50549462 [A/G] NM_015428,NM_001006656 ZNF473,ZNF473 EXON Missense_V588M,Missense_V588M exm2277175 19 50549514 [T/G] NM_015428,NM_001006656 ZNF473,ZNF473 EXON Missense_R605L,Missense_R605L exm1493481 19 50549580 [T/C] NM_015428,NM_001006656 ZNF473,ZNF473 EXON Missense_A627V,Missense_A627V exm1493487 19 50549661 [T/C] NM_015428,NM_001006656 ZNF473,ZNF473 EXON Missense_T654I,Missense_T654I exm1493489 19 50549684 [T/G] NM_015428,NM_001006656 ZNF473,ZNF473 EXON Missense_S662A,Missense_S662A exm1493503 19 50550029 [T/C] NM_015428,NM_001006656 ZNF473,ZNF473 EXON Missense_R777W,Missense_R777W exm1493506 19 50550131 [G/C] NM_015428,NM_001006656 ZNF473,ZNF473 EXON Missense_E811Q,Missense_E811Q exm1493521 19 50657864 [T/C] NM_152358 IZUMO2 EXON Missense_V206M exm1493525 19 50657969 [A/G] NM_152358 IZUMO2 EXON Missense_R171C exm1493527 19 50661596 [T/G] NM_152358 IZUMO2 EXON Missense_K142T exm1493528 19 50661600 [C/G] NM_152358 IZUMO2 EXON Missense_L141V exm1493530 19 50662492 [A/C] NM_152358 IZUMO2 EXON Missense_L137R exm1493532 19 50662504 [A/C] NM_152358 IZUMO2 EXON Missense_C133F exm1493545 19 50666235 [A/T] NM_152358 IZUMO2 EXON Missense_F73I exm1493554 19 50666351 [T/C] NM_152358 IZUMO2 EXON Missense_H34R exm1493591 19 50714016 [A/G] NM_001145809,NM_001077186,NM_024729 MYH14,MYH14,MYH14 EXON Missense_G132S,Missense_G132S,Missense_G132S exm1493596 19 50720949 [A/G] NM_001145809,NM_001077186,NM_024729 MYH14,MYH14,MYH14 EXON Missense_M161I,Missense_M161I,Missense_M161I exm1493601 19 50720992 [A/G] NM_001145809,NM_001077186,NM_024729 MYH14,MYH14,MYH14 EXON Missense_A176T,Missense_A176T,Missense_A176T exm1493606 19 50726342 [T/C] NM_001145809,NM_001077186,NM_024729 MYH14,MYH14,MYH14 EXON Missense_R189C,Missense_R189C,Missense_R189C exm1493612 19 50727426 [A/G] NM_001145809,NM_001077186,NM_024729 MYH14,MYH14,MYH14 EXON Missense_V237M,Missense_V237M,Silent exm1493619 19 50730169 [A/G] NM_001145809,NM_001077186,NM_024729 MYH14,MYH14,MYH14 EXON Missense_I274V,Missense_I274V,Missense_I266V exm1493620 19 50730175 [A/G] NM_001145809,NM_001077186,NM_024729 MYH14,MYH14,MYH14 EXON Missense_I276V,Missense_I276V,Missense_I268V exm1493621 19 50730187 [A/G] NM_001145809,NM_001077186,NM_024729 MYH14,MYH14,MYH14 EXON Missense_V280I,Missense_V280I,Missense_V272I exm1493630 19 50735237 [G/C] NM_001145809,NM_001077186,NM_024729 MYH14,MYH14,MYH14 EXON Missense_P342A,Missense_P342A,Missense_P334A exm1493632 19 50735247 [C/G] NM_001145809,NM_001077186,NM_024729 MYH14,MYH14,MYH14 EXON Missense_S345C,Missense_S345C,Missense_S337C exm2268205 19 50745408 [A/G] NM_001145809,NM_001077186,NM_024729 MYH14,MYH14,MYH14 Silent,Silent,Silent exm1493646 19 50747534 [T/G] NM_001145809,NM_001077186,NM_024729 MYH14,MYH14,MYH14 EXON Missense_G384C,Missense_G384C,Missense_G376C exm1493647 19 50747544 [T/C] NM_001145809,NM_001077186,NM_024729 MYH14,MYH14,MYH14 EXON Missense_A387V,Missense_A387V,Missense_A379V exm1493672 19 50753904 [T/C] NM_001145809,NM_001077186,NM_024729 MYH14,MYH14,MYH14 EXON Missense_R597W,Missense_R597W,Missense_R589W exm1493676 19 50755956 [A/G] NM_001145809,NM_001077186,NM_024729 MYH14,MYH14,MYH14 EXON Missense_A631T,Missense_A631T,Missense_A623T exm1493678 19 50755984 [A/G] NM_001145809,NM_001077186,NM_024729 MYH14,MYH14,MYH14 EXON Missense_R640Q,Missense_R640Q,Missense_R632Q exm1493679 19 50756009 [T/C] NM_001145809,NM_001077186,NM_024729 MYH14,MYH14,MYH14 EXON Synonymous_D648D,Synonymous_D648D,Synonymous_D640D exm1493682 19 50758572 [C/G] NM_001145809,NM_001077186,NM_024729 MYH14,MYH14,MYH14 EXON Missense_G681R,Silent,Silent exm1493700 19 50764739 [T/C] NM_001145809,NM_001077186,NM_024729 MYH14,MYH14,MYH14 EXON Missense_A811V,Missense_A778V,Missense_A770V exm1493704 19 50764824 [T/G] NM_001145809,NM_001077186,NM_024729 MYH14,MYH14,MYH14 EXON Missense_E839D,Missense_E806D,Missense_E798D exm1493706 19 50766628 [T/C] NM_001145809,NM_001077186,NM_024729 MYH14,MYH14,MYH14 EXON Missense_A882V,Missense_A849V,Missense_A841V exm1493711 19 50770231 [A/G] NM_001145809,NM_001077186,NM_024729 MYH14,MYH14,MYH14 EXON Missense_R931H,Missense_R898H,Missense_R890H exm1493717 19 50771512 [A/G] NM_001145809,NM_001077186,NM_024729 MYH14,MYH14,MYH14 EXON Missense_R974H,Missense_R941H,Missense_R933H exm1493725 19 50774730 [T/C] NM_001145809,NM_001077186,NM_024729 MYH14,MYH14,MYH14 EXON Missense_T1033M,Missense_T1000M,Missense_T992M exm1493752 19 50780037 [T/C] NM_001145809,NM_001077186,NM_024729 MYH14,MYH14,MYH14 EXON Missense_T1235M,Missense_T1202M,Missense_T1194M exm2276665 19 50780111 [A/G] NM_001145809,NM_001077186,NM_024729 MYH14,MYH14,MYH14 EXON Missense_G1260S,Missense_G1227S,Missense_G1219S exm1493761 19 50781364 [T/C] NM_001145809,NM_001077186,NM_024729 MYH14,MYH14,MYH14 EXON Missense_R1284W,Missense_R1251W,Missense_R1243W exm1493763 19 50781385 [T/G] NM_001145809,NM_001077186,NM_024729 MYH14,MYH14,MYH14 EXON Missense_V1291L,Missense_V1258L,Missense_V1250L exm1493772 19 50783294 [A/G] NM_001145809,NM_001077186,NM_024729 MYH14,MYH14,MYH14 EXON Missense_A1345T,Missense_A1312T,Missense_A1304T exm1493785 19 50784977 [A/G] NM_001145809,NM_001077186,NM_024729 MYH14,MYH14,MYH14 EXON Missense_V1473M,Missense_V1440M,Missense_V1432M exm1493786 19 50784990 [A/G] NM_001145809,NM_001077186,NM_024729 MYH14,MYH14,MYH14 EXON Missense_E1477G,Missense_E1444G,Missense_E1436G exm1947121 19 50784992 [C/G] NM_001145809,NM_001077186,NM_024729 MYH14,MYH14,MYH14 EXON Missense_R1478G,Missense_R1445G,Missense_R1437G exm1493794 19 50789884 [A/G] NM_001145809,NM_001077186,NM_024729 MYH14,MYH14,MYH14 EXON Missense_R1562Q,Missense_R1529Q,Missense_R1521Q exm1493801 19 50789940 [A/G] NM_001145809,NM_001077186,NM_024729 MYH14,MYH14,MYH14 EXON Missense_V1581I,Missense_V1548I,Missense_V1540I exm2229831 19 50792843 [A/G] NM_001145809,NM_001077186,NM_024729 MYH14,MYH14,MYH14 EXON Missense_E1635K,Missense_E1602K,Missense_E1594K exm1493816 19 50794261 [C/G] NM_001145809,NM_001077186,NM_024729 MYH14,MYH14,MYH14 EXON Missense_G1695R,Missense_G1662R,Missense_G1654R exm1493818 19 50795558 [A/G] NM_001145809,NM_001077186,NM_024729 MYH14,MYH14,MYH14 EXON Missense_R1723H,Missense_R1690H,Missense_R1682H exm1493837 19 50796922 [A/G] NM_001145809,NM_001077186,NM_024729 MYH14,MYH14,MYH14 EXON Missense_R1816H,Missense_R1783H,Missense_R1775H exm1493844 19 50804981 [T/C] NM_001145809,NM_001077186,NM_024729 MYH14,MYH14,MYH14 EXON Missense_R1845W,Missense_R1812W,Missense_R1804W exm1493845 19 50804982 [A/G] NM_001145809,NM_001077186,NM_024729 MYH14,MYH14,MYH14 EXON Missense_R1845Q,Missense_R1812Q,Missense_R1804Q exm1493852 19 50810310 [T/C] NM_001145809,NM_001077186,NM_024729 MYH14,MYH14,MYH14 EXON Missense_R1895C,Missense_R1862C,Missense_R1854C exm1493861 19 50812350 [A/G] NM_001145809,NM_001077186,NM_024729 MYH14,MYH14,MYH14 EXON Missense_R1959Q,Missense_R1926Q,Missense_R1918Q exm1493867 19 50812926 [T/C] NM_001145809,NM_001077186,NM_024729 MYH14,MYH14,MYH14 EXON Missense_T1997M,Missense_T1964M,Missense_T1956M exm1493870 19 50812968 [A/C] NM_001145809,NM_001077186,NM_024729 MYH14,MYH14,MYH14 EXON Missense_D2011A,Missense_D1978A,Missense_D1970A exm1493890 19 50824008 [A/G] NM_004977 KCNC3 EXON Missense_A671V exm1493912 19 50826781 [T/C] NM_004977 KCNC3 EXON Missense_D477N exm1493913 19 50826787 [T/C] NM_004977 KCNC3 EXON Missense_D475N exm2253944 19 50826806 [A/G] NM_004977 KCNC3 EXON Synonymous_Y468Y exm1493970 19 50861884 [T/C] NM_004851 NAPSA EXON Missense_G397S exm2275107 19 50862004 [A/C] NM_004851 NAPSA EXON Missense_G357C exm2253945 19 50862319 [A/G] NM_004851 NAPSA EXON Synonymous_F328F exm1493985 19 50862765 [T/C] NM_004851 NAPSA EXON Missense_G311R exm1493986 19 50862768 [T/C] NM_004851 NAPSA EXON Missense_A310T exm1494011 19 50864364 [T/C] NM_004851 NAPSA EXON Missense_G168R exm1494015 19 50864919 [T/C] NM_004851 NAPSA Silent exm1494017 19 50864969 [A/T] NM_004851 NAPSA EXON Missense_Q140L exm1494026 19 50865535 [A/G] NM_004851 NAPSA EXON Missense_I40T exm1494027 19 50865538 [T/C] NM_004851 NAPSA EXON Missense_R39K exm1494033 19 50868815 [A/C] NM_004851 NAPSA EXON Missense_S22A exm1494042 19 50880867 [T/C] NM_001256647,NM_007121 NR1H2,NR1H2 EXON Missense_S2F,Missense_S2F exm2253946 19 50881054 [A/G] NM_001256647,NM_007121 NR1H2,NR1H2 EXON Synonymous_E36E,Synonymous_E36E exm1494082 19 50881968 [T/C] NM_001256647,NM_007121 NR1H2,NR1H2 EXON Missense_A124V,Missense_A221V exm1947212 19 50882001 [T/C] NM_001256647,NM_007121 NR1H2,NR1H2 EXON Missense_A135V,Missense_A232V exm1494125 19 50902164 [A/G] NM_001256849,NR_046402,NM_002691 POLD1,POLD1,POLD1 EXON Missense_R19H,Silent,Missense_R19H exm1494126 19 50902188 [T/A] NM_001256849,NR_046402,NM_002691 POLD1,POLD1,POLD1 EXON Missense_D27V,Silent,Missense_D27V exm1494128 19 50902196 [T/C] NM_001256849,NR_046402,NM_002691 POLD1,POLD1,POLD1 EXON Missense_R30W,Silent,Missense_R30W exm1494139 19 50902633 [T/G] NM_001256849,NR_046402,NM_002691 POLD1,POLD1,POLD1 EXON Missense_V70F,Silent,Missense_V70F exm1494143 19 50902670 [T/C] NM_001256849,NR_046402,NM_002691 POLD1,POLD1,POLD1 EXON Missense_P82L,Silent,Missense_P82L exm1494152 19 50905074 [A/G] NM_001256849,NR_046402,NM_002691 POLD1,POLD1,POLD1 EXON Missense_R119H,Silent,Missense_R119H exm1947243 19 50905089 [T/C] NM_001256849,NR_046402,NM_002691 POLD1,POLD1,POLD1 EXON Missense_V124A,Silent,Missense_V124A exm1494160 19 50905151 [A/G] NM_001256849,NR_046402,NM_002691 POLD1,POLD1,POLD1 EXON Missense_A145T,Silent,Missense_A145T exm1494162 19 50905173 [T/C] NM_001256849,NR_046402,NM_002691 POLD1,POLD1,POLD1 EXON Missense_A152V,Silent,Missense_A152V exm1494168 19 50905310 [A/G] NM_001256849,NR_046402,NM_002691 POLD1,POLD1,POLD1 EXON Missense_S173N,Silent,Missense_S173N exm1494189 19 50905725 [T/C] NM_001256849,NR_046402,NM_002691 POLD1,POLD1,POLD1 EXON Missense_T258M,Silent,Missense_T258M exm1494190 19 50905730 [A/G] NM_001256849,NR_046402,NM_002691 POLD1,POLD1,POLD1 EXON Missense_I260V,Silent,Missense_I260V exm1494194 19 50905877 [T/G] NM_001256849,NR_046402,NM_002691 POLD1,POLD1,POLD1 EXON Missense_Q283H,Silent,Missense_Q283H exm1494195 19 50905911 [A/G] NM_001256849,NR_046402,NM_002691 POLD1,POLD1,POLD1 EXON Missense_V295M,Silent,Missense_V295M exm1494201 19 50905989 [A/G] NM_001256849,NR_046402,NM_002691 POLD1,POLD1,POLD1 EXON Missense_G321S,Silent,Missense_G321S exm1494207 19 50906400 [T/C] NM_001256849,NR_046402,NM_002691 POLD1,POLD1,POLD1 EXON Missense_A354V,Silent,Missense_A354V exm1494238 19 50910307 [A/G] NM_001256849,NR_046402,NM_002691 POLD1,POLD1,POLD1 EXON Missense_R521Q,Silent,Missense_R521Q exm1494259 19 50912061 [A/G] NM_001256849,NR_046402,NM_002691 POLD1,POLD1,POLD1 EXON Missense_A599T,Silent,Missense_A599T exm2253947 19 50912126 [A/G] NM_001256849,NR_046402,NM_002691 POLD1,POLD1,POLD1 EXON Synonymous_T620T,Silent,Synonymous_T620T exm1947296 19 50912418 [C/G] NM_001256849,NR_046402,NM_002691 POLD1,POLD1,POLD1 EXON Missense_D644E,Silent,Missense_D644E exm1494280 19 50912835 [A/G] NM_001256849,NR_046402,NM_002691 POLD1,POLD1,POLD1 EXON Missense_R689Q,Silent,Missense_R689Q exm1494287 19 50916713 [A/G] NM_001256849,NR_046402,NM_002691 POLD1,POLD1,POLD1 EXON Missense_E729K,Silent,Missense_E729K exm1494293 19 50917023 [A/G] NM_001256849,NR_046402,NM_002691 POLD1,POLD1,POLD1 EXON Missense_V759I,Silent,Missense_V759I exm1494295 19 50917038 [A/G] NM_001256849,NR_046402,NM_002691 POLD1,POLD1,POLD1 EXON Missense_G764S,Silent,Missense_G764S exm1494312 19 50918229 [A/G] NM_001256849,NR_046402,NM_002691 POLD1,POLD1,POLD1 EXON Missense_R849H,Silent,Missense_R849H exm1494319 19 50918799 [T/C] NM_001256849,NR_046402,NM_002691 POLD1,POLD1,POLD1 EXON Missense_A890V,Silent,Missense_A890V exm1494360 19 50921137 [A/G] NM_001256849,NR_046402,NM_002691 POLD1,POLD1,POLD1 EXON Missense_R1086Q,Silent,Missense_R1086Q exm1947335 19 50923207 [A/G] NM_003121,NM_001243998,NM_001243999,NM_001244000 SPIB,SPIB,SPIB,SPIB EXON Missense_D10N,Silent,Missense_D10N,Silent exm1494372 19 50925740 [A/G] NM_003121,NM_001243998,NM_001243999,NM_001244000 SPIB,SPIB,SPIB,SPIB EXON Missense_G21D,Missense_A2T,Missense_G21D,Missense_A2T exm-rs3745516 19 50926742 [A/G] NM_003121,NM_001243998,NM_001243999,NM_001244000 SPIB,SPIB,SPIB,SPIB Silent,Silent,Silent,Silent exm1494392 19 50926902 [T/G] NM_003121,NM_001243998,NM_001243999,NM_001244000 SPIB,SPIB,SPIB,SPIB EXON Missense_V127G,Missense_V36G,Missense_V127G,Missense_V96G exm1947350 19 50938418 [T/C] NM_004533 MYBPC2 EXON Missense_A7V exm1494422 19 50939077 [A/G] NM_004533 MYBPC2 EXON Missense_G52S exm1494426 19 50939276 [A/C] NM_004533 MYBPC2 EXON Missense_D68E exm1494434 19 50939376 [A/G] NM_004533 MYBPC2 EXON Missense_A102T exm1494441 19 50939982 [A/G] NM_004533 MYBPC2 EXON Missense_D152N exm1494443 19 50940735 [T/C] NM_004533 MYBPC2 EXON Missense_R157C exm1494445 19 50940775 [A/G] NM_004533 MYBPC2 EXON Missense_R170H exm1494446 19 50940778 [T/C] NM_004533 MYBPC2 EXON Missense_T171M exm1494447 19 50940779 [A/G] NM_004533 MYBPC2 Silent exm1494449 19 50940938 [T/G] NM_004533 MYBPC2 EXON Missense_A179S exm1494462 19 50945512 [A/G] NM_004533 MYBPC2 EXON Missense_D282N exm1494472 19 50946869 [A/G] NM_004533 MYBPC2 EXON Missense_V341I exm1494474 19 50949163 [A/G] NM_004533 MYBPC2 EXON Missense_R387Q exm1494475 19 50949202 [A/T] NM_004533 MYBPC2 EXON Missense_D400V exm1494481 19 50949279 [A/G] NM_004533 MYBPC2 EXON Missense_G426S exm1494482 19 50949294 [A/G] NM_004533 MYBPC2 EXON Missense_E431K exm1494487 19 50951529 [T/G] NM_004533 MYBPC2 EXON Missense_A452S exm1494492 19 50951610 [T/C] NM_004533 MYBPC2 EXON Missense_R479W exm1494497 19 50951640 [A/G] NM_004533 MYBPC2 EXON Missense_V489I exm1494501 19 50954153 [A/G] NM_004533 MYBPC2 EXON Missense_G514S exm1494510 19 50955164 [T/G] NM_004533 MYBPC2 EXON Missense_E551D exm1494511 19 50955169 [T/C] NM_004533 MYBPC2 EXON Missense_A553V exm1494517 19 50957317 [A/G] NM_004533 MYBPC2 EXON Missense_R597Q exm1494521 19 50957397 [A/G] NM_004533 MYBPC2 EXON Missense_V624I exm1494525 19 50957412 [A/G] NM_004533 MYBPC2 EXON Missense_A629T exm1494530 19 50957588 [A/G] NM_004533 MYBPC2 EXON Nonsense_W659X exm1494531 19 50957600 [T/C] NM_004533 MYBPC2 EXON Missense_M663T exm1494539 19 50958466 [A/G] NM_004533 MYBPC2 EXON Missense_G706S exm1494544 19 50958550 [A/C] NM_004533 MYBPC2 EXON Missense_I734L exm1494546 19 50958773 [T/C] NM_004533 MYBPC2 EXON Missense_T737M exm1494548 19 50958794 [T/C] NM_004533 MYBPC2 EXON Missense_I744T exm1494550 19 50958799 [A/G] NM_004533 MYBPC2 EXON Missense_E746K exm1494556 19 50958868 [A/G] NM_004533 MYBPC2 EXON Missense_D769N exm1494559 19 50961876 [A/G] NM_004533 MYBPC2 EXON Missense_V791M exm1494565 19 50962198 [T/C] NM_004533 MYBPC2 EXON Missense_R844C exm1494577 19 50963351 [T/C] NM_004533 MYBPC2 EXON Missense_A949V exm1494579 19 50963369 [C/G] NM_004533 MYBPC2 EXON Missense_A955G exm1494581 19 50963410 [A/G] NM_004533 MYBPC2 EXON Missense_V969I exm1494583 19 50964811 [A/G] NM_004533 MYBPC2 EXON Missense_V982I exm1494588 19 50964859 [A/G] NM_004533 MYBPC2 EXON Missense_V998M exm1947433 19 50965234 [T/C] NM_004533 MYBPC2 EXON Missense_R1057C exm1494604 19 50967640 [A/G] NM_004533 MYBPC2 EXON Missense_R1089H exm1494611 19 50967735 [T/C] NM_004533 MYBPC2 EXON Missense_R1121W exm1947440 19 50967760 [T/C] NM_004533 MYBPC2 EXON Missense_A1129V exm1494623 19 50970953 [T/C] NM_138411 FAM71E1 EXON Missense_G209S exm1494625 19 50970967 [T/C] NM_138411 FAM71E1 EXON Missense_R204Q exm2253948 19 50970984 [T/C] NM_138411 FAM71E1 EXON Synonymous_R198R exm1494630 19 50971009 [A/C] NM_138411 FAM71E1 EXON Missense_S190I exm1494648 19 50979092 [A/G] NM_138411 FAM71E1 EXON Nonsense_Q120X exm1494652 19 50979179 [T/C] NM_138411 FAM71E1 EXON Missense_G91S exm1494664 19 50979533 [A/G] NM_138411 FAM71E1 EXON Missense_V38A exm1494679 19 50979908 [C/G] NM_138411,NM_175063,NM_206538 FAM71E1,EMC10,EMC10 EXON Silent,Missense_A36G,Missense_A36G exm1494697 19 50983413 [T/C] NM_175063,NM_206538 EMC10,EMC10 EXON Nonsense_R115X,Nonsense_R115X exm1494699 19 50983419 [A/G] NM_175063,NM_206538 EMC10,EMC10 EXON Missense_G117R,Missense_G117R exm1494701 19 50983450 [A/G] NM_175063,NM_206538 EMC10,EMC10 EXON Missense_Y127C,Missense_Y127C exm1947474 19 50983901 [A/G] NM_175063,NM_206538 EMC10,EMC10 EXON Missense_V156M,Missense_V156M exm1494711 19 50983941 [A/G] NM_175063,NM_206538 EMC10,EMC10 EXON Missense_R169Q,Missense_R169Q exm1494720 19 50984149 [T/C] NM_175063,NM_206538 EMC10,EMC10 EXON Missense_T198M,Missense_T198M exm1494733 19 50985170 [T/C] NM_175063,NM_206538 EMC10,EMC10 EXON Missense_A244V,Silent exm1494741 19 50985427 [A/G] NM_175063,NM_206538 EMC10,EMC10 EXON Silent,Missense_V234I exm1494756 19 51009440 [T/C] NM_001270686,NM_138334,NM_001270639,NM_001270640,NM_001270641 JOSD2,JOSD2,JOSD2,JOSD2,JOSD2 EXON Missense_R186Q,Missense_R186Q,Missense_R186Q,Missense_R186Q,Missense_R144Q exm2253950 19 51009655 [T/C] NM_001270686,NM_138334,NM_001270639,NM_001270640,NM_001270641 JOSD2,JOSD2,JOSD2,JOSD2,JOSD2 EXON Synonymous_L149L,Synonymous_L149L,Synonymous_L149L,Synonymous_L149L,Synonymous_L107L exm1494765 19 51009668 [A/G] NM_001270686,NM_138334,NM_001270639,NM_001270640,NM_001270641 JOSD2,JOSD2,JOSD2,JOSD2,JOSD2 EXON Missense_A145V,Missense_A145V,Missense_A145V,Missense_A145V,Missense_A103V exm1494772 19 51009768 [T/C] NM_001270686,NM_138334,NM_001270639,NM_001270640,NM_001270641 JOSD2,JOSD2,JOSD2,JOSD2,JOSD2 EXON Missense_V112M,Missense_V112M,Missense_V112M,Missense_V112M,Missense_V70M exm1494778 19 51010939 [T/C] NM_001270686,NM_138334,NM_001270639,NM_001270640,NM_001270641 JOSD2,JOSD2,JOSD2,JOSD2,JOSD2 EXON Missense_R55Q,Missense_R55Q,Missense_R55Q,Missense_R55Q,Silent exm1494793 19 51015030 [T/G] NM_001024656,NM_001114598 ASPDH,ASPDH EXON Missense_A165D,Missense_A270D exm1494814 19 51016194 [A/G] NM_001024656,NM_001114598 ASPDH,ASPDH EXON Missense_A36V,Missense_A91V exm1494815 19 51016200 [T/C] NM_001024656,NM_001114598 ASPDH,ASPDH EXON Missense_R34H,Missense_R89H exm1494825 19 51017762 [T/C] NM_001024656 ASPDH EXON Missense_G2E exm1494855 19 51021447 [T/C] NM_001080457 LRRC4B EXON Missense_G508E exm1494869 19 51021984 [A/G] NM_001080457 LRRC4B EXON Missense_T329M exm1494879 19 51022351 [T/C] NM_001080457 LRRC4B EXON Missense_V207I exm1494886 19 51022648 [A/G] NM_001080457 LRRC4B EXON Missense_H108Y exm1494897 19 51052073 [A/G] NM_001080457 LRRC4B EXON Missense_P8L exm1494898 19 51052082 [T/C] NM_001080457 LRRC4B EXON Missense_R5H exm1494903 19 51125985 [T/C] NM_032298,NM_001160328,NM_001160329 SYT3,SYT3,SYT3 EXON Missense_G579S,Missense_G579S,Missense_G579S exm1494951 19 51133427 [A/G] NM_032298,NM_001160328,NM_001160329 SYT3,SYT3,SYT3 EXON Missense_Y226H,Missense_Y226H,Missense_Y226H exm2229853 19 51135549 [A/G] NM_032298,NM_001160328,NM_001160329 SYT3,SYT3,SYT3 EXON Missense_T223I,Missense_T223I,Missense_T223I exm1494952 19 51135568 [A/C] NM_032298,NM_001160328,NM_001160329 SYT3,SYT3,SYT3 EXON Missense_V217F,Missense_V217F,Missense_V217F exm1494960 19 51135688 [T/C] NM_032298,NM_001160328,NM_001160329 SYT3,SYT3,SYT3 EXON Missense_A177T,Missense_A177T,Missense_A177T exm1494975 19 51136049 [T/C] NM_032298,NM_001160328,NM_001160329 SYT3,SYT3,SYT3 EXON Synonymous_L56L,Synonymous_L56L,Synonymous_L56L exm2253952 19 51136049 [T/C] NM_032298,NM_001160328,NM_001160329 SYT3,SYT3,SYT3 EXON Synonymous_L56L,Synonymous_L56L,Synonymous_L56L exm2253953 19 51140618 [A/G] NM_032298,NM_001160328,NM_001160329 SYT3,SYT3,SYT3 EXON Synonymous_V17V,Synonymous_V17V,Synonymous_V17V exm2229855 19 51152715 [T/G] NM_001195076 C19orf81 EXON Missense_V5G exm1494992 19 51159502 [G/C] NM_001195076 C19orf81 EXON Missense_V54L exm1494994 19 51159571 [T/G] NM_001195076 C19orf81 EXON Missense_S77A exm1495006 19 51165385 [T/C] NM_016148 SHANK1 EXON Missense_E2108G exm1495009 19 51165437 [A/C] NM_016148 SHANK1 EXON Missense_G2091C exm1495025 19 51165628 [T/G] NM_016148 SHANK1 EXON Missense_P2027H exm2229857 19 51165736 [T/C] NM_016148 SHANK1 EXON Missense_R1991Q exm1495034 19 51165737 [A/G] NM_016148 SHANK1 EXON Missense_R1991W exm1495047 19 51165845 [T/C] NM_016148 SHANK1 EXON Missense_G1955R exm1495051 19 51165899 [T/C] NM_016148 SHANK1 EXON Missense_V1937I exm1495053 19 51169485 [T/C] NM_016148 SHANK1 EXON Missense_Y1911C exm1495055 19 51169488 [T/C] NM_016148 SHANK1 EXON Missense_S1910N exm1495064 19 51169797 [A/G] NM_016148 SHANK1 EXON Missense_P1807L exm1495065 19 51169830 [T/C] NM_016148 SHANK1 EXON Missense_G1796E exm1495084 19 51170370 [T/G] NM_016148 SHANK1 EXON Missense_T1616N exm1495095 19 51170706 [A/G] NM_016148 SHANK1 EXON Missense_V1504A exm1495140 19 51172526 [G/C] NM_016148 SHANK1 EXON Missense_D897E exm1495143 19 51175328 [T/C] NM_016148 SHANK1 EXON Missense_R874H exm1495147 19 51175353 [T/G] NM_016148 SHANK1 EXON Missense_H866N exm1495148 19 51189537 [T/G] NM_016148 SHANK1 EXON Missense_A845E exm1495156 19 51190055 [A/G] NM_016148 SHANK1 EXON Missense_P802S exm1947584 19 51190068 [T/C] NM_016148 SHANK1 EXON Synonymous_E797E exm1947607 19 51205831 [T/C] NM_016148 SHANK1 EXON Missense_R547Q exm1495215 19 51207702 [C/G] NM_016148 SHANK1 EXON Missense_P383A exm2253954 19 51217497 [T/C] NM_016148 SHANK1 EXON Synonymous_K194K exm1495261 19 51220119 [T/G] NM_016148 SHANK1 EXON Missense_P20T exm1495262 19 51220125 [T/C] NM_016148 SHANK1 EXON Missense_E18K exm2229862 19 51226796 [T/G] NM_002975 CLEC11A EXON Missense_W5L exm1947631 19 51226798 [G/C] NM_002975 CLEC11A EXON Missense_L6V exm1495272 19 51227161 [A/G] NM_002975 CLEC11A Silent exm1495281 19 51228284 [G/C] NM_002975 CLEC11A EXON Missense_L178V exm1495284 19 51228327 [T/G] NM_002975 CLEC11A EXON Missense_R192L exm1947651 19 51273886 [C/G] NM_001506 GPR32 EXON Missense_G10A exm1947652 19 51273925 [A/G] NM_001506 GPR32 EXON Missense_R23H exm2253956 19 51273962 [A/G] NM_001506 GPR32 EXON Synonymous_L35L exm1495311 19 51274056 [A/G] NM_001506 GPR32 EXON Missense_M67V exm1495330 19 51274395 [T/C] NM_001506 GPR32 EXON Missense_R180W exm1495332 19 51274423 [T/C] NM_001506 GPR32 EXON Missense_T189M exm1495337 19 51274510 [T/C] NM_001506 GPR32 EXON Missense_I218T exm1495353 19 51274869 [A/G] NM_001506 GPR32 EXON Missense_A338T exm1495359 19 51293678 [A/G] NM_033068 ACPT EXON Missense_G3S exm2253957 19 51294102 [A/G] NM_033068 ACPT EXON Synonymous_E96E exm1495383 19 51295390 [A/G] NM_033068 ACPT EXON Missense_E171K exm1495402 19 51296990 [A/G] NM_033068 ACPT EXON Missense_R232Q exm1495423 19 51297825 [A/G] NM_033068 ACPT EXON Missense_A325T exm1495424 19 51297826 [A/C] NM_033068 ACPT EXON Missense_A325D exm1495426 19 51297835 [G/C] NM_033068 ACPT EXON Missense_G328A exm1495458 19 51301395 [T/C] NM_199250,NM_199249 C19orf48,C19orf48 EXON Missense_G104E,Missense_G104E exm1495459 19 51301398 [A/G] NM_199250,NM_199249 C19orf48,C19orf48 EXON Missense_P103L,Missense_P103L exm1495469 19 51301438 [T/C] NM_199250,NM_199249 C19orf48,C19orf48 EXON Missense_A90T,Missense_A90T exm1495470 19 51301456 [A/G] NM_199250,NM_199249 C19orf48,C19orf48 EXON Missense_R84C,Missense_R84C exm1495478 19 51301519 [C/G] NM_199250,NM_199249 C19orf48,C19orf48 EXON Missense_L63V,Missense_L63V exm1495485 19 51301687 [T/C] NM_199250,NM_199249 C19orf48,C19orf48 EXON Missense_V7I,Missense_V7I exm1495509 19 51322484 [T/A] NM_002257 KLK1 EXON Missense_K252M exm1495513 19 51322589 [A/G] NM_002257 KLK1 EXON Missense_P217L exm1495520 19 51323232 [T/C] NM_002257 KLK1 EXON Missense_K186E exm1495522 19 51323293 [T/C] NM_002257 KLK1 Silent exm1495528 19 51323473 [C/G] NM_002257 KLK1 EXON Missense_E145Q exm1495538 19 51323676 [T/C] NM_002257 KLK1 EXON Missense_R77H exm1495543 19 51324969 [T/C] NM_002257 KLK1 EXON Missense_D69N exm1495547 19 51325050 [C/G] NM_002257 KLK1 EXON Missense_L42V exm1495561 19 51329146 [T/C] NM_138564,NM_138563,NM_017509 KLK15,KLK15,KLK15 EXON Missense_G141D,Silent,Missense_G226D exm1495574 19 51330211 [C/G] NM_138564,NM_138563,NM_017509 KLK15,KLK15,KLK15 EXON Silent,Missense_G135A,Missense_G135A exm1495584 19 51330325 [T/C] NM_138564,NM_138563,NM_017509 KLK15,KLK15,KLK15 EXON Missense_R97H,Missense_R97H,Missense_R97H exm1495587 19 51330356 [A/G] NM_138564,NM_138563,NM_017509 KLK15,KLK15,KLK15 EXON Missense_R87W,Missense_R87W,Missense_R87W exm1495593 19 51330951 [T/C] NM_138564,NM_138563,NM_017509 KLK15,KLK15,KLK15 EXON Missense_H55R,Missense_H55R,Missense_H55R exm1495595 19 51330985 [A/G] NM_138564,NM_138563,NM_017509 KLK15,KLK15,KLK15 EXON Missense_R44C,Missense_R44C,Missense_R44C exm1495596 19 51330990 [C/G] NM_138564,NM_138563,NM_017509 KLK15,KLK15,KLK15 EXON Missense_R42P,Missense_R42P,Missense_R42P exm1495598 19 51331063 [T/C] NM_138564,NM_138563,NM_017509 KLK15,KLK15,KLK15 EXON Missense_D18N,Missense_D18N,Missense_D18N exm2268206 19 51340794 [A/G] exm-rs266849 19 51349090 [A/G] exm1495611 19 51359497 [T/C] NM_001030048,NM_001030050,NM_001030047,NM_001648 KLK3,KLK3,KLK3,KLK3 EXON Synonymous_G16G,Synonymous_G16G,Synonymous_G16G,Synonymous_G16G exm1495614 19 51359519 [T/C] NM_001030048,NM_001030050,NM_001030047,NM_001648 KLK3,KLK3,KLK3,KLK3 EXON Missense_R24W,Missense_R24W,Missense_R24W,Missense_R24W exm1495617 19 51359543 [A/G] NM_001030048,NM_001030050,NM_001030047,NM_001648 KLK3,KLK3,KLK3,KLK3 EXON Missense_E32K,Missense_E32K,Missense_E32K,Missense_E32K exm1947763 19 51359565 [T/A] NM_001030048,NM_001030050,NM_001030047,NM_001648 KLK3,KLK3,KLK3,KLK3 EXON Missense_Q39L,Missense_Q39L,Missense_Q39L,Missense_Q39L exm1495626 19 51361307 [T/C] NM_001030048,NM_001030047,NM_001648 KLK3,KLK3,KLK3 EXON Silent,Missense_R77W,Missense_R77W exm1495627 19 51361308 [A/G] NM_001030048,NM_001030047,NM_001648 KLK3,KLK3,KLK3 EXON Silent,Missense_R77Q,Missense_R77Q exm2253958 19 51361315 [T/C] NM_001030048,NM_001030047,NM_001648 KLK3,KLK3,KLK3 EXON Silent,Synonymous_S79S,Synonymous_S79S exm1495630 19 51361382 [A/G] NM_001030048,NM_001030047,NM_001648 KLK3,KLK3,KLK3 EXON Silent,Missense_D102N,Missense_D102N exm1495635 19 51361448 [T/C] NM_001030048,NM_001030047,NM_001648 KLK3,KLK3,KLK3 EXON Missense_L81F,Missense_L124F,Missense_L124F exm1495636 19 51361451 [T/C] NM_001030048,NM_001030047,NM_001648 KLK3,KLK3,KLK3 EXON Missense_R82C,Missense_R125C,Missense_R125C exm1495638 19 51361472 [A/C] NM_001030048,NM_001030047,NM_001648 KLK3,KLK3,KLK3 EXON Missense_L89I,Missense_L132I,Missense_L132I exm1495645 19 51361757 [T/C] NM_001030048,NM_001030047,NM_001648 KLK3,KLK3,KLK3 EXON Missense_I136T,Missense_I179T,Missense_I179T exm1495654 19 51362804 [A/G] NM_001030048,NM_001030047,NM_001648 KLK3,KLK3,KLK3 EXON Silent,Missense_E217K,Silent exm1495667 19 51363277 [T/C] NM_001030048,NM_001030047,NM_001648 KLK3,KLK3,KLK3 EXON Missense_T184M,Silent,Missense_T227M exm1495675 19 51363346 [A/G] NM_001030048,NM_001030047,NM_001648 KLK3,KLK3,KLK3 EXON Missense_R207Q,Silent,Missense_R250Q exm-rs2735839 19 51364623 [A/G] exm1495691 19 51378022 [A/G] NM_001256080,NM_005551,NR_045763,NR_045762,NM_001002231 KLK2,KLK2,KLK2,KLK2,KLK2 EXON Silent,Missense_C31Y,Silent,Silent,Missense_C31Y exm1495693 19 51378085 [A/G] NM_001256080,NM_005551,NR_045763,NR_045762,NM_001002231 KLK2,KLK2,KLK2,KLK2,KLK2 EXON Silent,Missense_G52D,Silent,Silent,Missense_G52D exm1495699 19 51379748 [A/G] NM_001256080,NM_005551,NR_045763,NR_045762,NM_001002231 KLK2,KLK2,KLK2,KLK2,KLK2 EXON Silent,Missense_G76D,Silent,Silent,Missense_G76D exm1495702 19 51379798 [A/C] NM_001256080,NM_005551,NR_045763,NR_045762,NM_001002231 KLK2,KLK2,KLK2,KLK2,KLK2 EXON Silent,Missense_S93R,Silent,Silent,Missense_S93R exm1495707 19 51379845 [A/T] NM_001256080,NM_005551,NR_045763,NR_045762,NM_001002231 KLK2,KLK2,KLK2,KLK2,KLK2 EXON Missense_H6Q,Missense_H108Q,Silent,Silent,Missense_H108Q exm1495709 19 51379895 [A/G] NM_001256080,NM_005551,NR_045763,NR_045762,NM_001002231 KLK2,KLK2,KLK2,KLK2,KLK2 EXON Missense_R23H,Missense_R125H,Silent,Silent,Missense_R125H exm1495710 19 51379901 [T/C] NM_001256080,NM_005551,NR_045763,NR_045762,NM_001002231 KLK2,KLK2,KLK2,KLK2,KLK2 EXON Missense_S25L,Missense_S127L,Silent,Silent,Missense_S127L exm1495713 19 51379948 [A/C] NM_001256080,NM_005551,NR_045763,NR_045762,NM_001002231 KLK2,KLK2,KLK2,KLK2,KLK2 EXON Missense_T41P,Missense_T143P,Silent,Silent,Missense_T143P exm1495720 19 51380134 [A/G] NM_001256080,NM_005551,NR_045763,NR_045762,NM_001002231 KLK2,KLK2,KLK2,KLK2,KLK2 EXON Missense_R65H,Missense_R167H,Silent,Silent,Missense_R167H exm1947797 19 51380290 [T/C] NM_001256080,NM_005551,NR_045763,NR_045762,NM_001002231 KLK2,KLK2,KLK2,KLK2,KLK2 EXON Silent,Silent,Silent,Silent,Missense_L219P exm1495728 19 51381777 [T/C] NM_001256080,NM_005551,NR_045763,NR_045762,NM_001002231 KLK2,KLK2,KLK2,KLK2,KLK2 EXON Missense_R148W,Missense_R250W,Silent,Silent,Silent exm1495730 19 51381793 [A/C] NM_001256080,NM_005551,NR_045763,NR_045762,NM_001002231 KLK2,KLK2,KLK2,KLK2,KLK2 EXON Missense_D153A,Missense_D255A,Silent,Silent,Silent exm1495737 19 51410258 [T/C] NM_004917 KLK4 EXON Missense_V233M exm1495738 19 51410275 [A/G] NM_004917 KLK4 EXON Missense_P227L exm1495741 19 51411636 [T/G] NM_004917 KLK4 EXON Missense_H197Q exm1495745 19 51411742 [A/G] NM_004917 KLK4 EXON Missense_P162L exm1495746 19 51411751 [T/C] NM_004917 KLK4 EXON Missense_G159D exm1495750 19 51411852 [T/C] NM_004917 KLK4 EXON Nonsense_W153X exm1495756 19 51411999 [T/C] NM_004917 KLK4 EXON Missense_R104Q exm1495764 19 51412072 [T/C] NM_004917 KLK4 EXON Missense_G80R exm2229873 19 51413994 [A/T] NM_004917 KLK4 EXON Missense_M1L exm1495782 19 51446966 [T/C] NM_001077492,NM_012427,NM_001077491 KLK5,KLK5,KLK5 EXON Missense_R268Q,Missense_R268Q,Missense_R268Q exm1495796 19 51451954 [T/C] NM_001077492,NM_012427,NM_001077491 KLK5,KLK5,KLK5 EXON Missense_R223K,Missense_R223K,Missense_R223K exm2253959 19 51451971 [A/G] NM_001077492,NM_012427,NM_001077491 KLK5,KLK5,KLK5 EXON Synonymous_C217C,Synonymous_C217C,Synonymous_C217C exm1495809 19 51452193 [T/C] NM_001077492,NM_012427,NM_001077491 KLK5,KLK5,KLK5 EXON Missense_I172V,Missense_I172V,Missense_I172V exm1495812 19 51452216 [T/C] NM_001077492,NM_012427,NM_001077491 KLK5,KLK5,KLK5 EXON Missense_R164H,Missense_R164H,Missense_R164H exm1495813 19 51452250 [T/C] NM_001077492,NM_012427,NM_001077491 KLK5,KLK5,KLK5 EXON Missense_N153D,Missense_N153D,Missense_N153D exm1495820 19 51452357 [T/C] NM_001077492,NM_012427,NM_001077491 KLK5,KLK5,KLK5 EXON Missense_R117H,Missense_R117H,Missense_R117H exm1947846 19 51453210 [A/G] NM_001077492,NM_012427,NM_001077491 KLK5,KLK5,KLK5 EXON Missense_P79L,Missense_P79L,Missense_P79L exm1495830 19 51453283 [T/C] NM_001077492,NM_012427,NM_001077491 KLK5,KLK5,KLK5 EXON Missense_G55R,Missense_G55R,Missense_G55R exm1947849 19 51453297 [A/G] NM_001077492,NM_012427,NM_001077491 KLK5,KLK5,KLK5 EXON Missense_L50P,Missense_L50P,Missense_L50P exm1495845 19 51462454 [A/G] NM_001012965,NM_002774,NM_001012964 KLK6,KLK6,KLK6 EXON Missense_T127M,Missense_T234M,Missense_T234M exm1495870 19 51466771 [A/G] NM_001012965,NM_002774,NM_001012964 KLK6,KLK6,KLK6 EXON Silent,Missense_R78W,Missense_R78W exm1495873 19 51470486 [A/G] NM_001012965,NM_002774,NM_001012964 KLK6,KLK6,KLK6 EXON Silent,Missense_L46F,Missense_L46F exm1495876 19 51471329 [A/G] NM_001012965,NM_002774,NM_001012964 KLK6,KLK6,KLK6 EXON Silent,Missense_I11T,Missense_I11T exm1495889 19 51480829 [A/G] NM_001207053,NM_001243126,NM_005046,NM_139277 KLK7,KLK7,KLK7,KLK7 EXON Missense_T170I,Missense_T235I,Missense_T242I,Missense_T242I exm1495891 19 51480840 [G/C] NM_001207053,NM_001243126,NM_005046,NM_139277 KLK7,KLK7,KLK7,KLK7 EXON Synonymous_V166V,Synonymous_V231V,Synonymous_V238V,Synonymous_V238V exm2253960 19 51480840 [G/C] NM_001207053,NM_001243126,NM_005046,NM_139277 KLK7,KLK7,KLK7,KLK7 EXON Synonymous_V166V,Synonymous_V231V,Synonymous_V238V,Synonymous_V238V exm1495899 19 51480931 [A/G] NM_001207053,NM_001243126,NM_005046,NM_139277 KLK7,KLK7,KLK7,KLK7 EXON Missense_P136L,Missense_P201L,Missense_P208L,Missense_P208L exm1495906 19 51483507 [A/G] NM_001207053,NM_001243126,NM_005046,NM_139277 KLK7,KLK7,KLK7,KLK7 EXON Missense_T81M,Missense_T146M,Missense_T153M,Missense_T153M exm2229876 19 51483558 [T/C] NM_001207053,NM_001243126,NM_005046,NM_139277 KLK7,KLK7,KLK7,KLK7 EXON Missense_R64H,Missense_R129H,Missense_R136H,Missense_R136H exm1495914 19 51483678 [A/G] NM_001207053,NM_001243126,NM_005046,NM_139277 KLK7,KLK7,KLK7,KLK7 EXON Missense_S24L,Missense_S89L,Missense_S96L,Missense_S96L exm1947883 19 51485056 [T/C] NM_001207053,NM_001243126,NM_005046,NM_139277 KLK7,KLK7,KLK7,KLK7 EXON Silent,Silent,Missense_R63H,Missense_R63H exm1495924 19 51485072 [T/C] NM_001207053,NM_001243126,NM_005046,NM_139277 KLK7,KLK7,KLK7,KLK7 EXON Silent,Silent,Missense_V58I,Missense_V58I exm1495925 19 51485086 [A/G] NM_001207053,NM_001243126,NM_005046,NM_139277 KLK7,KLK7,KLK7,KLK7 EXON Silent,Silent,Missense_L53P,Missense_L53P exm1495926 19 51485144 [T/C] NM_001207053,NM_001243126,NM_005046,NM_139277 KLK7,KLK7,KLK7,KLK7 EXON Silent,Silent,Missense_A34T,Missense_A34T exm1495946 19 51503285 [T/C] NM_144505,NM_007196,NM_144507,NM_144506 KLK8,KLK8,KLK8,KLK8 EXON Missense_V199I,Missense_V154I,Silent,Silent exm1495952 19 51503408 [T/C] NM_144505,NM_007196,NM_144507,NM_144506 KLK8,KLK8,KLK8,KLK8 EXON Missense_D158N,Missense_D113N,Silent,Silent exm1495965 19 51503938 [A/G] NM_144505,NM_007196,NM_144507,NM_144506 KLK8,KLK8,KLK8,KLK8 EXON Missense_A36V,Silent,Silent,Silent exm1495969 19 51503966 [T/A] NM_144505,NM_007196,NM_144507,NM_144506 KLK8,KLK8,KLK8,KLK8 EXON Missense_S27C,Silent,Silent,Silent exm1495970 19 51504386 [A/G] NM_144505,NM_007196,NM_144507,NM_144506 KLK8,KLK8,KLK8,KLK8 EXON Missense_M13T,Missense_M13T,Missense_M13T,Missense_M13T exm1495977 19 51506373 [A/C] NM_012315 KLK9 EXON Missense_E249D exm1495978 19 51506384 [T/C] NM_012315 KLK9 EXON Missense_E246K exm1495991 19 51507003 [A/C] NM_012315 KLK9 EXON Missense_M187R exm1495996 19 51509729 [T/C] NM_012315 KLK9 EXON Missense_V151M exm1495997 19 51509798 [A/G] NM_012315 KLK9 EXON Nonsense_Q128X exm1947909 19 51509908 [A/G] NM_012315 KLK9 EXON Missense_T91M exm1496010 19 51512575 [A/G] NM_012315 KLK9 EXON Missense_R22C exm2273575 19 51517731 [A/G] NM_145888,NM_002776,NM_001077500 KLK10,KLK10,KLK10 EXON Silent,Silent,Silent exm1496028 19 51518060 [T/C] NM_145888,NM_002776,NM_001077500 KLK10,KLK10,KLK10 EXON Missense_N276S,Missense_N276S,Missense_N276S exm1496033 19 51518112 [A/G] NM_145888,NM_002776,NM_001077500 KLK10,KLK10,KLK10 EXON Missense_Y259H,Missense_Y259H,Missense_Y259H exm1496034 19 51518115 [C/G] NM_145888,NM_002776,NM_001077500 KLK10,KLK10,KLK10 EXON Missense_V258L,Missense_V258L,Missense_V258L exm1496053 19 51519200 [T/C] NM_145888,NM_002776,NM_001077500 KLK10,KLK10,KLK10 EXON Missense_R161H,Missense_R161H,Missense_R161H exm1496057 19 51519219 [T/C] NM_145888,NM_002776,NM_001077500 KLK10,KLK10,KLK10 EXON Missense_A155T,Missense_A155T,Missense_A155T exm1496059 19 51519225 [T/C] NM_145888,NM_002776,NM_001077500 KLK10,KLK10,KLK10 EXON Missense_V153I,Missense_V153I,Missense_V153I exm1496060 19 51519227 [T/C] NM_145888,NM_002776,NM_001077500 KLK10,KLK10,KLK10 EXON Missense_R152H,Missense_R152H,Missense_R152H exm1496074 19 51519354 [A/G] NM_145888,NM_002776,NM_001077500 KLK10,KLK10,KLK10 EXON Missense_R110C,Missense_R110C,Missense_R110C exm2229879 19 51519380 [A/T] NM_145888,NM_002776,NM_001077500 KLK10,KLK10,KLK10 EXON Missense_L101Q,Missense_L101Q,Missense_L101Q exm1496089 19 51520487 [A/C] NM_145888,NM_002776,NM_001077500 KLK10,KLK10,KLK10 EXON Missense_S50A,Missense_S50A,Missense_S50A exm2229881 19 51525890 [C/G] NM_144947,NM_001136032,NM_001167605,NM_006853 KLK11,KLK11,KLK11,KLK11 EXON Missense_D254H,Missense_D222H,Missense_D247H,Missense_D222H exm1496114 19 51526425 [T/C] NM_144947,NM_001136032,NM_001167605,NM_006853 KLK11,KLK11,KLK11,KLK11 EXON Missense_E207K,Missense_E175K,Missense_E200K,Missense_E175K exm1496116 19 51526442 [A/G] NM_144947,NM_001136032,NM_001167605,NM_006853 KLK11,KLK11,KLK11,KLK11 EXON Missense_I201T,Missense_I169T,Missense_I194T,Missense_I169T exm1496119 19 51526473 [C/G] NM_144947,NM_001136032,NM_001167605,NM_006853 KLK11,KLK11,KLK11,KLK11 EXON Missense_H191D,Missense_H159D,Missense_H184D,Missense_H159D exm1496124 19 51527364 [A/G] NM_144947,NM_001136032,NM_001167605,NM_006853 KLK11,KLK11,KLK11,KLK11 EXON Missense_R166C,Missense_R134C,Missense_R159C,Missense_R134C exm1496125 19 51527382 [A/G] NM_144947,NM_001136032,NM_001167605,NM_006853 KLK11,KLK11,KLK11,KLK11 EXON Missense_P160S,Missense_P128S,Missense_P153S,Missense_P128S exm1947944 19 51527409 [C/G] NM_144947,NM_001136032,NM_001167605,NM_006853 KLK11,KLK11,KLK11,KLK11 EXON Missense_P151A,Missense_P119A,Missense_P144A,Missense_P119A exm1496127 19 51527441 [T/C] NM_144947,NM_001136032,NM_001167605,NM_006853 KLK11,KLK11,KLK11,KLK11 EXON Missense_R140H,Missense_R108H,Missense_R133H,Missense_R108H exm1947946 19 51527894 [T/G] NM_144947,NM_001136032,NM_001167605,NM_006853 KLK11,KLK11,KLK11,KLK11 EXON Missense_P98H,Missense_P66H,Missense_P66Q,Missense_P66H exm1496139 19 51527934 [A/C] NM_144947,NM_001136032,NM_001167605,NM_006853 KLK11,KLK11,KLK11,KLK11 EXON Missense_A85S,Missense_A53S,Missense_A53S,Missense_A53S exm1496145 19 51527970 [T/C] NM_144947,NM_001136032,NM_001167605,NM_006853 KLK11,KLK11,KLK11,KLK11 EXON Missense_E73K,Missense_E41K,Missense_E41K,Missense_E41K exm1496150 19 51528012 [T/C] NM_144947,NM_001136032,NM_001167605,NM_006853 KLK11,KLK11,KLK11,KLK11 EXON Missense_E59K,Missense_E27K,Missense_E27K,Missense_E27K exm1496151 19 51528041 [T/C] NM_144947,NM_001136032,NM_001167605,NM_006853 KLK11,KLK11,KLK11,KLK11 EXON Missense_G49E,Missense_G17E,Missense_G17E,Missense_G17E exm1496152 19 51528050 [T/C] NM_144947,NM_001136032,NM_001167605,NM_006853 KLK11,KLK11,KLK11,KLK11 EXON Missense_G46E,Missense_G14E,Missense_G14E,Missense_G14E exm1496155 19 51528849 [T/C] NM_144947,NM_001136032,NM_001167605,NM_006853 KLK11,KLK11,KLK11,KLK11 EXON Synonymous_T45T,Synonymous_T13T,Synonymous_T13T,Synonymous_T13T exm1496157 19 51528890 [T/C] NM_144947,NM_001136032,NM_001167605,NM_006853 KLK11,KLK11,KLK11,KLK11 EXON Missense_A32T,Silent,Silent,Silent exm1496158 19 51528896 [A/G] NM_144947,NM_001136032,NM_001167605,NM_006853 KLK11,KLK11,KLK11,KLK11 EXON Missense_L30F,Silent,Silent,Silent exm1496168 19 51530741 [G/C] NM_144947,NM_001167605,NM_006853 KLK11,KLK11,KLK11 EXON Missense_K11N,Silent,Silent exm2275110 19 51532458 [A/C] NM_019598,NM_145895,NM_145894 KLK12,KLK12,KLK12 EXON Missense_V240F,Silent,Silent exm1496177 19 51532567 [C/G] NM_019598,NM_145895,NM_145894 KLK12,KLK12,KLK12 EXON Silent,Silent,Missense_R246S exm1496184 19 51534048 [T/C] NM_019598,NM_145895,NM_145894 KLK12,KLK12,KLK12 EXON Missense_C196Y,Synonymous_L109L,Missense_C196Y exm1496193 19 51535130 [A/G] NM_019598,NM_145895,NM_145894 KLK12,KLK12,KLK12 Silent,Silent,Silent exm1496200 19 51535237 [T/C] NM_019598,NM_145895,NM_145894 KLK12,KLK12,KLK12 EXON Missense_V118I,Silent,Missense_V118I exm1496209 19 51535330 [A/G] NM_019598,NM_145895,NM_145894 KLK12,KLK12,KLK12 EXON Missense_R87W,Silent,Missense_R87W exm1496223 19 51537323 [A/C] NM_019598,NM_145895,NM_145894 KLK12,KLK12,KLK12 EXON Missense_V37G,Missense_V37G,Missense_V37G exm1496225 19 51537332 [A/G] NM_019598,NM_145895,NM_145894 KLK12,KLK12,KLK12 EXON Missense_P34L,Missense_P34L,Missense_P34L exm1496230 19 51537873 [T/C] NM_019598,NM_145895,NM_145894 KLK12,KLK12,KLK12 EXON Missense_G2E,Missense_G2E,Missense_G2E exm1496246 19 51561871 [T/C] NM_015596 KLK13 EXON Missense_R190H exm1496256 19 51563174 [T/G] NM_015596 KLK13 EXON Missense_Y139S exm2229884 19 51563212 [T/C] NM_015596 KLK13 EXON Missense_M126I exm1947975 19 51563229 [A/G] NM_015596 KLK13 EXON Missense_H121Y exm1496290 19 51568324 [A/T] NM_015596 KLK13 EXON Missense_M1L exm1947986 19 51581368 [T/C] NM_022046 KLK14 EXON Missense_V234M exm1496298 19 51581412 [T/C] NM_022046 KLK14 EXON Missense_D219G exm1496301 19 51582098 [A/G] NM_022046 KLK14 EXON Missense_P209S exm1496303 19 51582157 [T/C] NM_022046 KLK14 EXON Missense_E189G exm1496304 19 51582163 [A/G] NM_022046 KLK14 EXON Missense_P187L exm1496305 19 51582166 [A/G] NM_022046 KLK14 EXON Missense_S186F exm1947991 19 51582741 [T/C] NM_022046 KLK14 EXON Missense_R160Q exm1496311 19 51582802 [T/C] NM_022046 KLK14 EXON Missense_G140R exm1496313 19 51582808 [A/G] NM_022046 KLK14 EXON Missense_R138W exm1496316 19 51582867 [T/C] NM_022046 KLK14 EXON Missense_N118S exm1496317 19 51582885 [T/C] NM_022046 KLK14 EXON Missense_R112H exm1496318 19 51582895 [A/G] NM_022046 KLK14 EXON Missense_R109C exm1496329 19 51584858 [T/C] NM_022046 KLK14 EXON Missense_R64H exm1496333 19 51584891 [A/G] NM_022046 KLK14 EXON Missense_P53L exm1496334 19 51584903 [T/C] NM_022046 KLK14 EXON Missense_R49Q exm1496336 19 51584916 [A/G] NM_022046 KLK14 EXON Missense_H45Y exm1496337 19 51584924 [A/G] NM_022046 KLK14 EXON Missense_I42T exm1496338 19 51584951 [T/C] NM_022046 KLK14 EXON Missense_Q33R exm1496343 19 51585978 [T/C] NM_022046 KLK14 Silent exm1496371 19 51607507 [A/G] NM_145232 CTU1 EXON Missense_A107V exm2272836 19 51619559 [T/C] exm1496385 19 51628272 [T/G] NM_001198558,NM_014441 SIGLEC9,SIGLEC9 EXON Missense_R14M,Missense_R14M exm1496393 19 51628394 [T/C] NM_001198558,NM_014441 SIGLEC9,SIGLEC9 EXON Missense_P55S,Missense_P55S exm1496405 19 51628529 [A/G] NM_001198558,NM_014441 SIGLEC9,SIGLEC9 EXON Missense_K100E,Missense_K100E exm2229887 19 51628560 [G/C] NM_001198558,NM_014441 SIGLEC9,SIGLEC9 EXON Missense_R110T,Missense_R110T exm1496408 19 51628605 [A/G] NM_001198558,NM_014441 SIGLEC9,SIGLEC9 EXON Missense_S125N,Missense_S125N exm1496409 19 51628622 [A/C] NM_001198558,NM_014441 SIGLEC9,SIGLEC9 EXON Missense_K131Q,Missense_K131Q exm1496410 19 51628624 [A/C] NM_001198558,NM_014441 SIGLEC9,SIGLEC9 EXON Missense_K131N,Missense_K131N exm1496413 19 51628873 [A/C] NM_001198558,NM_014441 SIGLEC9,SIGLEC9 EXON Missense_N147K,Missense_N147K exm1496418 19 51628988 [T/C] NM_001198558,NM_014441 SIGLEC9,SIGLEC9 EXON Missense_S186P,Missense_S186P exm1496440 19 51630344 [A/G] NM_001198558,NM_014441 SIGLEC9,SIGLEC9 EXON Missense_R269H,Missense_R269H exm1496441 19 51630437 [A/C] NM_001198558,NM_014441 SIGLEC9,SIGLEC9 EXON Nonsense_S300X,Nonsense_S300X exm1496444 19 51630445 [A/G] NM_001198558,NM_014441 SIGLEC9,SIGLEC9 EXON Missense_G303R,Missense_G303R exm1496452 19 51631217 [T/C] NM_001198558,NM_014441 SIGLEC9,SIGLEC9 EXON Missense_S343P,Missense_S343P exm1496453 19 51631236 [T/C] NM_001198558,NM_014441 SIGLEC9,SIGLEC9 EXON Missense_V349A,Missense_V349A exm1496467 19 51633212 [A/G] NM_001198558,NM_014441 SIGLEC9,SIGLEC9 EXON Silent,Missense_R423H exm1948034 19 51633253 [A/G] NM_001198558,NM_014441 SIGLEC9,SIGLEC9 EXON Silent,Missense_S437G exm1496476 19 51633330 [A/C] NM_001198558,NM_014441 SIGLEC9,SIGLEC9 EXON Silent,Missense_H462Q exm1496485 19 51645726 [A/G] NM_016543,NM_014385 SIGLEC7,SIGLEC7 EXON Missense_V34M,Missense_V34M exm1496487 19 51645753 [T/C] NM_016543,NM_014385 SIGLEC7,SIGLEC7 EXON Missense_H43Y,Missense_H43Y exm1496509 19 51648193 [T/C] NM_016543,NM_014385 SIGLEC7,SIGLEC7 EXON Missense_T153I,Missense_T246I exm1948054 19 51649312 [T/C] NM_016543,NM_014385 SIGLEC7,SIGLEC7 EXON Nonsense_R228X,Nonsense_R321X exm1496532 19 51650501 [T/C] NM_016543,NM_014385 SIGLEC7,SIGLEC7 EXON Missense_S290L,Missense_S383L exm1496533 19 51650516 [T/C] NM_016543,NM_014385 SIGLEC7,SIGLEC7 EXON Missense_A295V,Missense_A388V exm1496534 19 51650521 [A/G] NM_016543,NM_014385 SIGLEC7,SIGLEC7 EXON Missense_V297M,Missense_V390M exm1496543 19 51656430 [C/G] NM_016543,NM_014385 SIGLEC7,SIGLEC7 EXON Missense_K351N,Missense_K444N exm-rs3826656 19 51726613 [A/G] exm-rs3865444 19 51727962 [A/C] exm1496574 19 51728567 [T/C] NM_001772,NM_001082618,NM_001177608 CD33,CD33,CD33 EXON Missense_F44S,Silent,Missense_F44S exm1496577 19 51728587 [A/G] NM_001772,NM_001082618,NM_001177608 CD33,CD33,CD33 EXON Missense_D51N,Silent,Missense_D51N exm1496583 19 51728621 [A/G] NM_001772,NM_001082618,NM_001177608 CD33,CD33,CD33 EXON Missense_R62Q,Silent,Missense_R62Q exm1496600 19 51728846 [A/G] NM_001772,NM_001082618,NM_001177608 CD33,CD33,CD33 EXON Missense_H137R,Silent,Missense_H137R exm1496622 19 51729594 [T/C] NM_001772,NM_001082618,NM_001177608 CD33,CD33,CD33 EXON Missense_F243L,Missense_F116L,Missense_F243L exm2275111 19 51738468 [A/G] NM_001772,NM_001082618,NM_001177608 CD33,CD33,CD33 EXON Missense_T268A,Missense_T141A,Missense_T268A exm1496632 19 51738917 [A/G] NM_001772,NM_001082618,NM_001177608 CD33,CD33,CD33 EXON Missense_G304R,Missense_G177R,Missense_G304R exm1496633 19 51738920 [T/C] NM_001772,NM_001082618,NM_001177608 CD33,CD33,CD33 EXON Missense_S305P,Missense_S178P,Missense_S305P exm1496634 19 51738927 [T/C] NM_001772,NM_001082618,NM_001177608 CD33,CD33,CD33 EXON Missense_S307F,Missense_S180F,Missense_S307F exm1496635 19 51738931 [A/G] NM_001772,NM_001082618,NM_001177608 CD33,CD33,CD33 EXON Synonymous_P308P,Synonymous_P181P,Synonymous_P308P exm1496636 19 51738933 [T/C] NM_001772,NM_001082618,NM_001177608 CD33,CD33,CD33 Silent,Silent,Silent exm1496637 19 51742799 [T/G] NM_001772,NM_001082618 CD33,CD33 EXON Missense_H317Q,Missense_H190Q exm1496641 19 51742818 [A/G] NM_001772,NM_001082618 CD33,CD33 EXON Missense_S324G,Missense_S197G exm1496642 19 51742833 [A/G] NM_001772,NM_001082618 CD33,CD33 EXON Missense_A329T,Missense_A202T exm1496643 19 51742839 [A/G] NM_001772,NM_001082618 CD33,CD33 EXON Missense_T331A,Missense_T204A exm1496644 19 51742875 [T/C] NM_001772,NM_001082618 CD33,CD33 EXON Missense_L343F,Missense_L216F exm1948075 19 51742917 [A/G] NM_001772,NM_001082618 CD33,CD33 EXON Missense_E357K,Missense_E230K exm1496654 19 51768620 [A/G] NM_173635 SIGLECL1 Silent exm1496663 19 51768760 [A/G] NM_173635 SIGLECL1 EXON Missense_S54N exm1496681 19 51770627 [A/C] NM_173635 SIGLECL1 EXON Synonymous_I137I exm1948081 19 51770638 [T/C] NM_173635 SIGLECL1 EXON Missense_I141T exm1496687 19 51770773 [A/G] NM_173635 SIGLECL1 EXON Missense_S186N exm1496688 19 51770775 [T/C] NM_173635 SIGLECL1 EXON Missense_R187W exm1496689 19 51770776 [A/G] NM_173635 SIGLECL1 EXON Missense_R187Q exm-rs1878047 19 51773802 [A/G] exm1496705 19 51827107 [A/G] NM_001101372 IGLON5 EXON Missense_R117H exm1496738 19 51837487 [T/C] NM_001163922 VSIG10L EXON Missense_V793I exm1496741 19 51840579 [A/G] NM_001163922 VSIG10L EXON Missense_R740W exm1496742 19 51840597 [T/C] NM_001163922 VSIG10L EXON Missense_V734M exm1496750 19 51841312 [T/C] NM_001163922 VSIG10L EXON Missense_R627H exm1496760 19 51842357 [A/C] NM_001163922 VSIG10L EXON Missense_G505V exm1496778 19 51845070 [T/A] NM_001163922 VSIG10L EXON Missense_S78T exm1496781 19 51845371 [T/G] NM_001163922 VSIG10L EXON Missense_N3T exm1496789 19 51848546 [T/G] NM_001985,NM_001014763 ETFB,ETFB EXON Missense_D229E,Missense_D320E exm1496794 19 51850174 [T/C] NM_001985,NM_001014763 ETFB,ETFB EXON Missense_A193T,Missense_A284T exm1496795 19 51850210 [T/C] NM_001985,NM_001014763 ETFB,ETFB EXON Missense_V181M,Missense_V272M exm1496796 19 51850230 [T/C] NM_001985,NM_001014763 ETFB,ETFB EXON Missense_R174H,Missense_R265H exm1496800 19 51850253 [A/G] NM_001985,NM_001014763 ETFB,ETFB EXON Synonymous_I166I,Synonymous_I257I exm1496801 19 51850261 [A/G] NM_001985,NM_001014763 ETFB,ETFB EXON Missense_R164W,Missense_R255W exm1496803 19 51850290 [A/G] NM_001985,NM_001014763 ETFB,ETFB EXON Missense_T154M,Missense_T245M exm1948108 19 51850299 [A/G] NM_001985,NM_001014763 ETFB,ETFB EXON Missense_S151F,Missense_S242F exm2272799 19 51850597 [T/C] NM_001985,NM_001014763 ETFB,ETFB Silent,Silent exm1496810 19 51856469 [A/G] NM_001985,NM_001014763 ETFB,ETFB EXON Missense_R98C,Missense_R189C exm1496811 19 51856483 [A/G] NM_001985,NM_001014763 ETFB,ETFB EXON Missense_P93L,Missense_P184L exm1496815 19 51856534 [T/C] NM_001985,NM_001014763 ETFB,ETFB EXON Missense_R76H,Missense_R167H exm1496834 19 51857658 [T/C] NM_001985,NM_001014763 ETFB,ETFB EXON Silent,Missense_V79I exm1496838 19 51857738 [A/G] NM_001985,NM_001014763 ETFB,ETFB EXON Silent,Missense_P52L exm1496839 19 51857774 [T/G] NM_001985,NM_001014763 ETFB,ETFB EXON Silent,Missense_E40A exm1496845 19 51869541 [T/G] NM_001985 ETFB EXON Missense_I14L exm1496852 19 51870438 [A/C] NM_152353 CLDND2 EXON Missense_M154I exm1496856 19 51870712 [T/C] NM_152353 CLDND2 EXON Synonymous_A143A exm1496862 19 51871157 [A/G] NM_152353 CLDND2 EXON Missense_A98V exm1496864 19 51871160 [T/C] NM_152353 CLDND2 EXON Missense_S97N exm1496865 19 51871178 [A/G] NM_152353 CLDND2 EXON Missense_L91P exm1496867 19 51871194 [T/C] NM_152353 CLDND2 EXON Missense_D86N exm1496872 19 51871229 [A/G] NM_152353 CLDND2 EXON Missense_V74A exm1496873 19 51871668 [A/C] NM_152353 CLDND2 EXON Missense_C55F exm1496878 19 51871734 [T/C] NM_152353 CLDND2 EXON Missense_R33H exm1496879 19 51871737 [A/G] NM_152353 CLDND2 EXON Missense_T32I exm1496887 19 51875038 [A/G] NM_005601 NKG7 EXON Missense_T164I exm1496896 19 51875286 [T/C] NM_005601 NKG7 EXON Missense_R116Q exm1496899 19 51875296 [T/C] NM_005601 NKG7 EXON Missense_T113A exm1496910 19 51875489 [A/G] NM_005601 NKG7 EXON Missense_V77A exm1496911 19 51875502 [T/C] NM_005601 NKG7 EXON Missense_V73M exm2253962 19 51875545 [T/C] NM_005601 NKG7 EXON Synonymous_T58T exm1496934 19 51883839 [A/G] NM_001161748,NM_030657 LIM2,LIM2 EXON Missense_L127P,Missense_L169P exm2276667 19 51883882 [C/G] NM_001161748,NM_030657 LIM2,LIM2 EXON Missense_V113L,Missense_V155L exm1496936 19 51883885 [T/C] NM_001161748,NM_030657 LIM2,LIM2 EXON Missense_V112I,Missense_V154I exm1496983 19 51914616 [A/G] NM_001171159,NM_001171161,NM_001171156,NM_033130,NM_001171160,NM_001171158,NM_001171157 SIGLEC10,SIGLEC10,SIGLEC10,SIGLEC10,SIGLEC10,SIGLEC10,SIGLEC10 EXON Missense_R458W,Missense_R368W,Missense_R553W,Missense_R611W,Missense_R433W,Missense_R468W,Missense_R516W exm1496985 19 51916979 [T/G] NM_001171159,NM_001171161,NM_001171156,NM_033130,NM_001171160,NM_001171158,NM_001171157 SIGLEC10,SIGLEC10,SIGLEC10,SIGLEC10,SIGLEC10,SIGLEC10,SIGLEC10 EXON Missense_T450K,Missense_T360K,Missense_T545K,Missense_T603K,Missense_T425K,Missense_T460K,Missense_T508K exm1948175 19 51917039 [T/G] NM_001171159,NM_001171161,NM_001171156,NM_033130,NM_001171160,NM_001171158,NM_001171157 SIGLEC10,SIGLEC10,SIGLEC10,SIGLEC10,SIGLEC10,SIGLEC10,SIGLEC10 EXON Missense_T430N,Missense_T340N,Missense_T525N,Missense_T583N,Missense_T405N,Missense_T440N,Missense_T488N exm1496991 19 51917054 [T/C] NM_001171159,NM_001171161,NM_001171156,NM_033130,NM_001171160,NM_001171158,NM_001171157 SIGLEC10,SIGLEC10,SIGLEC10,SIGLEC10,SIGLEC10,SIGLEC10,SIGLEC10 EXON Missense_R425Q,Missense_R335Q,Missense_R520Q,Missense_R578Q,Missense_R400Q,Missense_R435Q,Missense_R483Q exm1496998 19 51917748 [A/G] NM_001171159,NM_001171161,NM_001171156,NM_033130,NM_001171160,NM_001171158,NM_001171157 SIGLEC10,SIGLEC10,SIGLEC10,SIGLEC10,SIGLEC10,SIGLEC10,SIGLEC10 EXON Missense_T393M,Missense_T303M,Missense_T488M,Missense_T546M,Missense_T368M,Missense_T403M,Missense_T451M exm1948188 19 51918617 [T/C] NM_001171159,NM_001171161,NM_001171156,NM_033130,NM_001171160,NM_001171158,NM_001171157 SIGLEC10,SIGLEC10,SIGLEC10,SIGLEC10,SIGLEC10,SIGLEC10,SIGLEC10 EXON Missense_H325R,Missense_H235R,Missense_H325R,Missense_H383R,Missense_H300R,Missense_H335R,Missense_H383R exm1497030 19 51918672 [T/C] NM_001171159,NM_001171161,NM_001171156,NM_033130,NM_001171160,NM_001171158,NM_001171157 SIGLEC10,SIGLEC10,SIGLEC10,SIGLEC10,SIGLEC10,SIGLEC10,SIGLEC10 EXON Missense_G307S,Missense_G217S,Missense_G307S,Missense_G365S,Missense_G282S,Missense_G317S,Missense_G365S exm1497052 19 51919263 [T/G] NM_001171159,NM_001171161,NM_001171156,NM_033130,NM_001171160,NM_001171158,NM_001171157,NM_001256795 SIGLEC10,SIGLEC10,SIGLEC10,SIGLEC10,SIGLEC10,SIGLEC10,SIGLEC10,LOC100129083 EXON Missense_P247T,Silent,Missense_P247T,Missense_P305T,Missense_P222T,Missense_P257T,Missense_P305T,Silent exm1497097 19 51920160 [A/G] NM_001171159,NM_001171161,NM_001171156,NM_033130,NM_001171160,NM_001171158,NM_001171157,NM_001256795 SIGLEC10,SIGLEC10,SIGLEC10,SIGLEC10,SIGLEC10,SIGLEC10,SIGLEC10,LOC100129083 EXON Silent,Silent,Silent,Missense_P156S,Silent,Silent,Missense_P156S,Silent exm1497105 19 51920434 [A/G] NM_001171159,NM_001171161,NM_001171156,NM_033130,NM_001171160,NM_001171158,NM_001171157,NM_001256795 SIGLEC10,SIGLEC10,SIGLEC10,SIGLEC10,SIGLEC10,SIGLEC10,SIGLEC10,LOC100129083 EXON Missense_A108V,Missense_A108V,Missense_A108V,Missense_A108V,Missense_A108V,Missense_A108V,Missense_A108V,Silent exm1497107 19 51920446 [A/G] NM_001171159,NM_001171161,NM_001171156,NM_033130,NM_001171160,NM_001171158,NM_001171157,NM_001256795 SIGLEC10,SIGLEC10,SIGLEC10,SIGLEC10,SIGLEC10,SIGLEC10,SIGLEC10,LOC100129083 EXON Missense_V104A,Missense_V104A,Missense_V104A,Missense_V104A,Missense_V104A,Missense_V104A,Missense_V104A,Silent exm1497128 19 51955667 [T/C] NM_014442 SIGLEC8 EXON Missense_N489S exm1497144 19 51957493 [T/C] NM_014442 SIGLEC8 EXON Missense_I409V exm1497146 19 51957497 [G/C] NM_014442 SIGLEC8 EXON Missense_K407N exm1497151 19 51957528 [T/C] NM_014442 SIGLEC8 EXON Missense_G397D exm1497154 19 51957987 [T/C] NM_014442 SIGLEC8 EXON Missense_A367T exm1948222 19 51958738 [A/G] NM_014442 SIGLEC8 EXON Nonsense_R329X exm1497170 19 51960467 [A/G] NM_014442 SIGLEC8 EXON Missense_T251I exm1497173 19 51960717 [A/G] NM_014442 SIGLEC8 EXON Missense_S244F exm1497186 19 51960940 [A/G] NM_014442 SIGLEC8 EXON Missense_S170P exm1497187 19 51960949 [A/C] NM_014442 SIGLEC8 EXON Missense_S167A exm1497195 19 51961257 [G/C] NM_014442 SIGLEC8 EXON Missense_G129R exm1497206 19 51961545 [T/C] NM_014442 SIGLEC8 EXON Missense_E33K exm1497219 19 51981792 [T/C] NM_001080405 CEACAM18 EXON Nonsense_R27X exm1497225 19 51981859 [T/C] NM_001080405 CEACAM18 EXON Missense_L49P exm1497228 19 51981879 [A/G] NM_001080405 CEACAM18 EXON Missense_E56K exm1497239 19 51983673 [A/G] NM_001080405 CEACAM18 EXON Missense_V108M exm1497250 19 51984656 [A/G] NM_001080405 CEACAM18 EXON Missense_S198N exm1497251 19 51984660 [T/G] NM_001080405 CEACAM18 EXON Missense_N199K exm1497252 19 51984673 [A/G] NM_001080405 CEACAM18 EXON Missense_V204I exm1497254 19 51984725 [T/A] NM_001080405 CEACAM18 EXON Missense_L221H exm1497264 19 51984817 [A/G] NM_001080405 CEACAM18 EXON Missense_V252I exm1497266 19 51984898 [T/C] NM_001080405 CEACAM18 EXON Missense_R279C exm1497273 19 51986379 [T/C] NM_001080405 CEACAM18 EXON Missense_L322P exm1497274 19 51986414 [G/C] NM_001080405 CEACAM18 EXON Missense_L334V exm1497277 19 51986451 [A/G] NM_001080405 CEACAM18 EXON Missense_S346N exm1497281 19 51986483 [T/G] NM_001080405 CEACAM18 EXON Missense_C357G exm2229903 19 51986501 [A/G] NM_001080405 CEACAM18 EXON Missense_V363M exm1497293 19 51994897 [A/G] NM_053003,NM_033329 SIGLEC12,SIGLEC12 EXON Missense_X596R,Missense_X478R exm1497305 19 52000150 [T/C] NM_053003,NM_033329 SIGLEC12,SIGLEC12 EXON Missense_R528K,Missense_R410K exm1497306 19 52000151 [T/A] NM_053003,NM_033329 SIGLEC12,SIGLEC12 EXON Missense_R528W,Missense_R410W exm1497310 19 52000181 [T/C] NM_053003,NM_033329 SIGLEC12,SIGLEC12 EXON Missense_D518N,Missense_D400N exm1497312 19 52000187 [T/C] NM_053003,NM_033329 SIGLEC12,SIGLEC12 EXON Missense_V516M,Missense_V398M exm1497318 19 52000616 [T/C] NM_053003,NM_033329 SIGLEC12,SIGLEC12 EXON Missense_I497V,Missense_I379V exm1497319 19 52000624 [T/G] NM_053003,NM_033329 SIGLEC12,SIGLEC12 EXON Missense_Y494S,Missense_Y376S exm1497324 19 52000672 [A/G] NM_053003,NM_033329 SIGLEC12,SIGLEC12 EXON Missense_T478M,Missense_T360M exm1497344 19 52001485 [A/G] NM_053003,NM_033329 SIGLEC12,SIGLEC12 EXON Missense_H398Y,Missense_H280Y exm1497357 19 52002739 [A/G] NM_053003,NM_033329 SIGLEC12,SIGLEC12 EXON Missense_P347L,Missense_P229L exm1497374 19 52003185 [T/A] NM_053003,NM_033329 SIGLEC12,SIGLEC12 EXON Missense_V266E,Missense_V148E exm1497380 19 52003331 [G/C] NM_053003,NM_033329 SIGLEC12,SIGLEC12 EXON Missense_H217Q,Missense_H99Q exm1948284 19 52003390 [T/G] NM_053003,NM_033329 SIGLEC12,SIGLEC12 EXON Missense_P198T,Missense_P80T exm1497388 19 52003503 [A/G] NM_053003,NM_033329 SIGLEC12,SIGLEC12 EXON Missense_T160I,Missense_T42I exm1497389 19 52003558 [T/C] NM_053003,NM_033329 SIGLEC12,SIGLEC12 EXON Silent,Missense_T24A exm1497390 19 52003588 [T/C] NM_053003,NM_033329 SIGLEC12,SIGLEC12 EXON Silent,Missense_S14G exm1497401 19 52004714 [A/G] NM_053003 SIGLEC12 EXON Nonsense_R92X exm1497404 19 52004743 [A/G] NM_053003 SIGLEC12 EXON Missense_A82V exm1497405 19 52004747 [T/G] NM_053003 SIGLEC12 EXON Missense_P81T exm1497406 19 52004773 [T/C] NM_053003 SIGLEC12 EXON Missense_R72Q exm1948291 19 52004774 [A/G] NM_053003 SIGLEC12 EXON Missense_R72W exm1497416 19 52004878 [T/C] NM_053003 SIGLEC12 EXON Missense_G37D exm1497431 19 52023419 [T/C] NM_198845,NM_001245,NM_198846,NM_001177547,NM_001177549,NM_001177548 SIGLEC6,SIGLEC6,SIGLEC6,SIGLEC6,SIGLEC6,SIGLEC6 EXON Missense_A411T,Missense_A427T,Silent,Missense_A375T,Silent,Silent exm1497439 19 52031483 [T/C] NM_198845,NM_001245,NM_198846,NM_001177547,NM_001177549,NM_001177548 SIGLEC6,SIGLEC6,SIGLEC6,SIGLEC6,SIGLEC6,SIGLEC6 EXON Missense_G330D,Missense_G346D,Silent,Missense_G294D,Silent,Missense_G357D exm1948309 19 52033031 [T/C] NM_198845,NM_001245,NM_198846,NM_001177547,NM_001177549,NM_001177548 SIGLEC6,SIGLEC6,SIGLEC6,SIGLEC6,SIGLEC6,SIGLEC6 EXON Missense_R304H,Missense_R320H,Missense_R320H,Missense_R268H,Missense_R309H,Missense_R331H exm1948310 19 52033032 [A/G] NM_198845,NM_001245,NM_198846,NM_001177547,NM_001177549,NM_001177548 SIGLEC6,SIGLEC6,SIGLEC6,SIGLEC6,SIGLEC6,SIGLEC6 EXON Missense_R304C,Missense_R320C,Missense_R320C,Missense_R268C,Missense_R309C,Missense_R331C exm1497456 19 52033179 [A/G] NM_198845,NM_001245,NM_198846,NM_001177547,NM_001177549,NM_001177548 SIGLEC6,SIGLEC6,SIGLEC6,SIGLEC6,SIGLEC6,SIGLEC6 EXON Missense_R255W,Missense_R271W,Missense_R271W,Missense_R219W,Missense_R260W,Missense_R282W exm1497457 19 52033206 [A/G] NM_198845,NM_001245,NM_198846,NM_001177547,NM_001177549,NM_001177548 SIGLEC6,SIGLEC6,SIGLEC6,SIGLEC6,SIGLEC6,SIGLEC6 EXON Missense_L246F,Missense_L262F,Missense_L262F,Missense_L210F,Missense_L251F,Missense_L273F exm1497459 19 52033235 [G/C] NM_198845,NM_001245,NM_198846,NM_001177547,NM_001177549,NM_001177548 SIGLEC6,SIGLEC6,SIGLEC6,SIGLEC6,SIGLEC6,SIGLEC6 EXON Missense_S236C,Missense_A252G,Missense_A252G,Missense_S200C,Missense_A241G,Missense_A263G exm1497460 19 52033694 [T/C] NM_198845,NM_001245,NM_198846,NM_001177547,NM_001177549,NM_001177548 SIGLEC6,SIGLEC6,SIGLEC6,SIGLEC6,SIGLEC6,SIGLEC6 EXON Silent,Missense_A251T,Missense_A251T,Silent,Missense_A240T,Missense_A262T exm1497461 19 52033742 [A/G] NM_198845,NM_001245,NM_198846,NM_001177547,NM_001177549,NM_001177548 SIGLEC6,SIGLEC6,SIGLEC6,SIGLEC6,SIGLEC6,SIGLEC6 EXON Silent,Silent,Silent,Silent,Silent,Missense_P246S exm1497464 19 52033760 [A/G] NM_198845,NM_001245,NM_198846,NM_001177547,NM_001177549,NM_001177548 SIGLEC6,SIGLEC6,SIGLEC6,SIGLEC6,SIGLEC6,SIGLEC6 EXON Silent,Silent,Silent,Silent,Silent,Missense_R240W exm1497466 19 52033967 [T/G] NM_198845,NM_001245,NM_198846,NM_001177547,NM_001177549,NM_001177548 SIGLEC6,SIGLEC6,SIGLEC6,SIGLEC6,SIGLEC6,SIGLEC6 EXON Missense_T225N,Missense_T225N,Missense_T225N,Missense_T189N,Missense_T214N,Missense_T225N exm1497479 19 52034437 [A/G] NM_198845,NM_001245,NM_198846,NM_001177547,NM_001177549,NM_001177548 SIGLEC6,SIGLEC6,SIGLEC6,SIGLEC6,SIGLEC6,SIGLEC6 EXON Missense_S135F,Missense_S135F,Missense_S135F,Missense_S99F,Missense_S135F,Missense_S135F exm1497480 19 52034459 [A/T] NM_198845,NM_001245,NM_198846,NM_001177547,NM_001177549,NM_001177548 SIGLEC6,SIGLEC6,SIGLEC6,SIGLEC6,SIGLEC6,SIGLEC6 EXON Missense_M128L,Missense_M128L,Missense_M128L,Missense_M92L,Missense_M128L,Missense_M128L exm1497484 19 52034506 [T/C] NM_198845,NM_001245,NM_198846,NM_001177547,NM_001177549,NM_001177548 SIGLEC6,SIGLEC6,SIGLEC6,SIGLEC6,SIGLEC6,SIGLEC6 EXON Missense_R112Q,Missense_R112Q,Missense_R112Q,Missense_R76Q,Missense_R112Q,Missense_R112Q exm1497486 19 52034549 [A/C] NM_198845,NM_001245,NM_198846,NM_001177547,NM_001177549,NM_001177548 SIGLEC6,SIGLEC6,SIGLEC6,SIGLEC6,SIGLEC6,SIGLEC6 EXON Missense_D98Y,Missense_D98Y,Missense_D98Y,Missense_D62Y,Missense_D98Y,Missense_D98Y exm1497503 19 52076628 [T/C] NM_007147 ZNF175 EXON Missense_P16S exm-IND19-56776502 19 52084691 [D/I] NM_007147 ZNF175 EXON exm1497509 19 52084769 [A/G] NM_007147 ZNF175 EXON Synonymous_V66V exm2253964 19 52085095 [A/G] NM_007147 ZNF175 EXON Synonymous_P85P exm1497514 19 52089895 [T/C] NM_007147 ZNF175 EXON Missense_L104P exm1497517 19 52089982 [C/G] NM_007147 ZNF175 EXON Missense_S133C exm1497527 19 52090191 [A/G] NM_007147 ZNF175 EXON Missense_E203K exm1497529 19 52090221 [A/G] NM_007147 ZNF175 EXON Missense_G213S exm1497536 19 52090419 [G/C] NM_007147 ZNF175 EXON Missense_D279H exm1497537 19 52090437 [T/G] NM_007147 ZNF175 EXON Missense_G285W exm1497538 19 52090444 [A/G] NM_007147 ZNF175 EXON Missense_S287N exm1497545 19 52090621 [A/C] NM_007147 ZNF175 EXON Missense_Q346P exm1497557 19 52090935 [A/G] NM_007147 ZNF175 EXON Missense_E451K exm1497558 19 52090941 [A/G] NM_007147 ZNF175 EXON Missense_G453R exm1497559 19 52090953 [T/A] NM_007147 ZNF175 EXON Missense_I457F exm1497562 19 52091067 [T/C] NM_007147 ZNF175 EXON Nonsense_R495X exm1497567 19 52091161 [T/C] NM_007147 ZNF175 EXON Missense_T526I exm1497568 19 52091176 [T/A] NM_007147 ZNF175 EXON Missense_H531L exm1497569 19 52091182 [A/G] NM_007147 ZNF175 EXON Missense_C533Y exm1497577 19 52091320 [A/G] NM_007147 ZNF175 EXON Missense_R579Q exm1497610 19 52115500 [A/G] NM_003830 SIGLEC5 EXON Missense_I547T exm1497616 19 52115597 [A/G] NM_003830 SIGLEC5 EXON Nonsense_Q515X exm1497619 19 52115645 [G/C] NM_003830 SIGLEC5 EXON Missense_P499A exm1497621 19 52129290 [T/G] NM_003830 SIGLEC5 EXON Missense_T487P exm1497624 19 52129326 [T/G] NM_003830 SIGLEC5 EXON Missense_K475Q exm1497627 19 52130438 [A/T] NM_003830 SIGLEC5 EXON Missense_L449Q exm1497631 19 52130459 [T/C] NM_003830 SIGLEC5 EXON Missense_G442D exm1497662 19 52131180 [A/G] NM_003830 SIGLEC5 EXON Missense_R302C exm1948403 19 52131288 [A/G] NM_003830 SIGLEC5 EXON Missense_R266W exm1497666 19 52131296 [T/C] NM_003830 SIGLEC5 EXON Missense_Q263R exm2253967 19 52132298 [A/G] NM_003830 SIGLEC5 EXON Synonymous_N244N exm1497701 19 52146621 [T/A] NM_001098612 SIGLEC14 EXON Missense_E393V exm2253970 19 52216563 [T/G] NM_001523 HAS1 EXON Silent exm1497750 19 52216694 [A/G] NM_001523 HAS1 EXON Missense_R575C exm1497753 19 52216738 [T/C] NM_001523 HAS1 EXON Nonsense_W560X exm1497762 19 52216874 [A/C] NM_001523 HAS1 EXON Missense_G515W exm1497770 19 52217045 [T/G] NM_001523 HAS1 EXON Missense_M458L exm1497780 19 52217174 [T/C] NM_001523 HAS1 EXON Missense_V415M exm1497783 19 52217231 [A/G] NM_001523 HAS1 EXON Missense_R396W exm1497790 19 52217317 [A/G] NM_001523 HAS1 EXON Missense_S367L exm1497797 19 52219609 [A/G] NM_001523 HAS1 EXON Missense_L321F exm1497805 19 52220346 [T/C] NM_001523 HAS1 EXON Missense_R268Q exm1948491 19 52220394 [T/C] NM_001523 HAS1 EXON Missense_R252Q exm1497809 19 52220401 [A/G] NM_001523 HAS1 EXON Missense_L250F exm1497823 19 52222523 [A/C] NM_001523 HAS1 EXON Missense_G213V exm1497830 19 52222748 [T/C] NM_001523 HAS1 EXON Missense_R138H exm1497846 19 52223048 [A/C] NM_001523 HAS1 EXON Missense_W38L exm1497848 19 52223121 [A/G] NM_001523 HAS1 EXON Missense_C14R exm1497865 19 52249211 [T/G] NM_001193306,NM_002029 FPR1,FPR1 EXON Missense_E346A,Missense_E346A exm1497873 19 52249442 [T/C] NM_001193306,NM_002029 FPR1,FPR1 EXON Missense_R269H,Missense_R269H exm1497879 19 52249574 [A/G] NM_001193306,NM_002029 FPR1,FPR1 EXON Missense_A225V,Missense_A225V exm1497885 19 52249641 [T/C] NM_001193306,NM_002029 FPR1,FPR1 EXON Missense_I203V,Missense_I203V exm1497888 19 52249672 [A/C] NM_001193306,NM_002029 FPR1,FPR1 EXON Missense_N192K,Missense_N192K exm1497890 19 52249689 [A/G] NM_001193306,NM_002029 FPR1,FPR1 EXON Missense_P187S,Missense_P187S exm1948519 19 52249695 [T/C] NM_001193306,NM_002029 FPR1,FPR1 EXON Missense_N185D,Missense_N185D exm1497897 19 52249760 [T/C] NM_001193306,NM_002029 FPR1,FPR1 EXON Missense_R163H,Missense_R163H exm1497900 19 52249808 [A/G] NM_001193306,NM_002029 FPR1,FPR1 EXON Missense_I147T,Missense_I147T exm2275112 19 52249809 [A/T] NM_001193306,NM_002029 FPR1,FPR1 EXON Missense_I147F,Missense_I147F exm1497927 19 52250216 [A/G] NM_001193306,NM_002029 FPR1,FPR1 EXON Missense_I11T,Missense_I11T exm1497928 19 52250222 [A/G] NM_001193306,NM_002029 FPR1,FPR1 EXON Missense_T9M,Missense_T9M exm1497938 19 52272131 [T/C] NM_001005738,NM_001462 FPR2,FPR2 EXON Missense_F74L,Missense_F74L exm1497948 19 52272350 [A/G] NM_001005738,NM_001462 FPR2,FPR2 EXON Missense_V147I,Missense_V147I exm1497954 19 52272525 [A/G] NM_001005738,NM_001462 FPR2,FPR2 EXON Missense_R205Q,Missense_R205Q exm1497960 19 52272651 [T/C] NM_001005738,NM_001462 FPR2,FPR2 EXON Missense_V247A,Missense_V247A exm1497971 19 52272840 [A/G] NM_001005738,NM_001462 FPR2,FPR2 EXON Missense_R310Q,Missense_R310Q exm-rs17695224 19 52324216 [A/G] NM_002030 FPR3 Silent exm1497978 19 52327056 [T/C] NM_002030 FPR3 EXON Missense_P19S exm2229919 19 52327071 [A/G] NM_002030 FPR3 EXON Missense_V24I exm1948549 19 52327257 [A/G] NM_002030 FPR3 EXON Missense_A86T exm1497993 19 52327441 [T/C] NM_002030 FPR3 EXON Missense_T147M exm1497995 19 52327510 [T/C] NM_002030 FPR3 EXON Missense_T170M exm1498009 19 52328044 [T/C] NM_002030 FPR3 EXON Missense_T348M exm-rs10411161 19 52372976 [T/C] NR_024181 ZNF577 Silent exm1498014 19 52375785 [T/G] NR_024181,NM_001135590,NM_032679 ZNF577,ZNF577,ZNF577 EXON Silent,Missense_X427Y,Missense_X486Y exm1498022 19 52376032 [A/T] NR_024181,NM_001135590,NM_032679 ZNF577,ZNF577,ZNF577 EXON Silent,Missense_I345K,Missense_I404K exm1498037 19 52376172 [A/T] NR_024181,NM_001135590,NM_032679 ZNF577,ZNF577,ZNF577 EXON Silent,Missense_R298S,Missense_R357S exm1498040 19 52376207 [A/G] NR_024181,NM_001135590,NM_032679 ZNF577,ZNF577,ZNF577 EXON Silent,Missense_R287C,Missense_R346C exm1498042 19 52376251 [T/C] NR_024181,NM_001135590,NM_032679 ZNF577,ZNF577,ZNF577 EXON Silent,Missense_C272Y,Missense_C331Y exm1498048 19 52376434 [T/C] NR_024181,NM_001135590,NM_032679 ZNF577,ZNF577,ZNF577 EXON Silent,Missense_Y211C,Missense_Y270C exm1498056 19 52376476 [T/C] NR_024181,NM_001135590,NM_032679 ZNF577,ZNF577,ZNF577 EXON Silent,Missense_R197Q,Missense_R256Q exm1498059 19 52376507 [T/C] NR_024181,NM_001135590,NM_032679 ZNF577,ZNF577,ZNF577 EXON Silent,Missense_K187E,Missense_K246E exm1498063 19 52376683 [A/C] NR_024181,NM_001135590,NM_032679 ZNF577,ZNF577,ZNF577 EXON Silent,Missense_G128V,Missense_G187V exm1498064 19 52376732 [T/C] NR_024181,NM_001135590,NM_032679 ZNF577,ZNF577,ZNF577 EXON Silent,Missense_A112T,Missense_A171T exm1498065 19 52376767 [T/C] NR_024181,NM_001135590,NM_032679 ZNF577,ZNF577,ZNF577 EXON Silent,Missense_E100G,Missense_E159G exm1498067 19 52376876 [A/G] NR_024181,NM_001135590,NM_032679 ZNF577,ZNF577,ZNF577 EXON Silent,Silent,Missense_R123C exm1498080 19 52380624 [C/G] NR_024181,NM_001135590,NM_032679 ZNF577,ZNF577,ZNF577 EXON Silent,Missense_R65P,Missense_R65P exm1498081 19 52380625 [A/G] NR_024181,NM_001135590,NM_032679 ZNF577,ZNF577,ZNF577 EXON Silent,Nonsense_R65X,Nonsense_R65X exm1498090 19 52381645 [T/C] NR_024181,NM_001135590,NM_032679 ZNF577,ZNF577,ZNF577 EXON Silent,Missense_I62V,Missense_I62V exm1498095 19 52381731 [A/G] NR_024181,NM_001135590,NM_032679 ZNF577,ZNF577,ZNF577 EXON Silent,Missense_T33I,Missense_T33I exm1498099 19 52381754 [A/G] NR_024181,NM_001135590,NM_032679 ZNF577,ZNF577,ZNF577 EXON Silent,Synonymous_F25F,Synonymous_F25F exm1498107 19 52383616 [A/G] NR_024181,NM_001135590,NM_032679 ZNF577,ZNF577,ZNF577 EXON Silent,Missense_V7A,Missense_V7A exm1498108 19 52383625 [T/G] NR_024181,NM_001135590,NM_032679 ZNF577,ZNF577,ZNF577 EXON Silent,Missense_A4D,Missense_A4D exm1498114 19 52393945 [T/C] NM_023074 ZNF649 EXON Missense_K482E exm1498115 19 52393963 [T/C] NM_023074 ZNF649 EXON Missense_S476G exm1498117 19 52393984 [T/C] NM_023074 ZNF649 EXON Missense_A469T exm1498121 19 52393999 [T/C] NM_023074 ZNF649 EXON Missense_E464K exm1498133 19 52394334 [T/C] NM_023074 ZNF649 EXON Missense_G352D exm1498138 19 52394439 [A/G] NM_023074 ZNF649 EXON Missense_P317L exm1498164 19 52394946 [A/G] NM_023074 ZNF649 EXON Missense_T148M exm1498169 19 52395150 [T/C] NM_023074 ZNF649 EXON Missense_E80G exm1498170 19 52399746 [T/G] NM_023074 ZNF649 EXON Missense_I73L exm1498183 19 52443490 [T/G] NM_024840,NM_001031721 ZNF613,ZNF613 EXON Silent,Missense_V15G exm1498191 19 52443894 [T/C] NM_024840,NM_001031721 ZNF613,ZNF613 EXON Missense_A20V,Missense_A56V exm1498205 19 52447677 [T/G] NM_024840,NM_001031721 ZNF613,ZNF613 EXON Missense_G145C,Missense_G181C exm1498210 19 52447801 [A/G] NM_024840,NM_001031721 ZNF613,ZNF613 EXON Missense_H186R,Missense_H222R exm1498211 19 52447841 [T/G] NM_024840,NM_001031721 ZNF613,ZNF613 EXON Missense_S199R,Missense_S235R exm1498228 19 52448196 [T/C] NM_024840,NM_001031721 ZNF613,ZNF613 EXON Missense_R318C,Missense_R354C exm1498234 19 52448259 [T/C] NM_024840,NM_001031721 ZNF613,ZNF613 EXON Missense_R339C,Missense_R375C exm1498235 19 52448260 [A/G] NM_024840,NM_001031721 ZNF613,ZNF613 EXON Missense_R339H,Missense_R375H exm1498238 19 52448317 [T/A] NM_024840,NM_001031721 ZNF613,ZNF613 EXON Missense_H358L,Missense_H394L exm1498240 19 52448392 [A/G] NM_024840,NM_001031721 ZNF613,ZNF613 EXON Missense_R383Q,Missense_R419Q exm1498250 19 52448584 [T/C] NM_024840,NM_001031721 ZNF613,ZNF613 EXON Missense_P447L,Missense_P483L exm1498257 19 52448718 [T/G] NM_024840,NM_001031721 ZNF613,ZNF613 EXON Missense_V492F,Missense_V528F exm1498260 19 52448782 [T/C] NM_024840,NM_001031721 ZNF613,ZNF613 EXON Missense_P513L,Missense_P549L exm1498262 19 52448830 [A/C] NM_024840,NM_001031721 ZNF613,ZNF613 EXON Missense_D529A,Missense_D565A exm1498263 19 52448907 [T/C] NM_024840,NM_001031721 ZNF613,ZNF613 EXON Nonsense_Q555X,Nonsense_Q591X exm1498268 19 52468109 [A/G] NM_021632 ZNF350 EXON Missense_X533Q exm1498271 19 52468136 [T/C] NM_021632 ZNF350 EXON Missense_V524I exm1498278 19 52468292 [A/G] NM_021632 ZNF350 EXON Missense_S472P exm1498281 19 52468327 [A/G] NM_021632 ZNF350 EXON Missense_A460V exm1498285 19 52468384 [T/C] NM_021632 ZNF350 EXON Missense_R441K exm1498292 19 52468527 [T/G] NM_021632 ZNF350 EXON Missense_Q393H exm2253971 19 52468551 [T/G] NM_021632 ZNF350 EXON Synonymous_T385T exm1498316 19 52469110 [A/G] NM_021632 ZNF350 EXON Missense_T199I exm1498318 19 52469168 [G/C] NM_021632 ZNF350 EXON Missense_A180P exm1498321 19 52469263 [C/G] NM_021632 ZNF350 EXON Missense_G148A exm1498322 19 52469284 [G/C] NM_021632 ZNF350 EXON Missense_T141S exm1498324 19 52469312 [A/G] NM_021632 ZNF350 EXON Missense_R132C exm1498327 19 52469437 [T/C] NM_021632 ZNF350 EXON Missense_R90H exm1498328 19 52469438 [A/G] NM_021632 ZNF350 EXON Missense_R90C exm1498334 19 52471863 [A/G] NM_021632 ZNF350 EXON Missense_I69T exm1498335 19 52471872 [A/G] NM_021632 ZNF350 EXON Missense_L66P exm1498339 19 52472289 [T/C] NM_021632 ZNF350 EXON Missense_M37I exm1498351 19 52496149 [T/C] NM_001199324,NM_198480 ZNF615,ZNF615 EXON Missense_R738K,Missense_R727K exm1948647 19 52496176 [A/G] NM_001199324,NM_198480 ZNF615,ZNF615 EXON Missense_A729V,Missense_A718V exm1498354 19 52496263 [A/G] NM_001199324,NM_198480 ZNF615,ZNF615 EXON Missense_F700S,Missense_F689S exm1948648 19 52496273 [T/C] NM_001199324,NM_198480 ZNF615,ZNF615 EXON Missense_G697R,Missense_G686R exm1498356 19 52496314 [T/C] NM_001199324,NM_198480 ZNF615,ZNF615 EXON Missense_R683K,Missense_R672K exm1498371 19 52496650 [T/C] NM_001199324,NM_198480 ZNF615,ZNF615 EXON Missense_R571H,Missense_R560H exm1498375 19 52496728 [T/C] NM_001199324,NM_198480 ZNF615,ZNF615 EXON Missense_H545R,Missense_H534R exm1498382 19 52496831 [T/C] NM_001199324,NM_198480 ZNF615,ZNF615 EXON Missense_I511V,Missense_I500V exm1498383 19 52496836 [T/C] NM_001199324,NM_198480 ZNF615,ZNF615 EXON Missense_R509H,Missense_R498H exm1498387 19 52496902 [T/C] NM_001199324,NM_198480 ZNF615,ZNF615 EXON Missense_R487Q,Missense_R476Q exm1498390 19 52496944 [T/C] NM_001199324,NM_198480 ZNF615,ZNF615 EXON Missense_R473Q,Missense_R462Q exm1948658 19 52497070 [T/C] NM_001199324,NM_198480 ZNF615,ZNF615 EXON Missense_R431Q,Missense_R420Q exm1498401 19 52497235 [A/G] NM_001199324,NM_198480 ZNF615,ZNF615 EXON Missense_T376I,Missense_T365I exm1498404 19 52497250 [A/G] NM_001199324,NM_198480 ZNF615,ZNF615 EXON Missense_T371I,Missense_T360I exm1948660 19 52497717 [A/C] NM_001199324,NM_198480 ZNF615,ZNF615 EXON Missense_H215Q,Missense_H204Q exm1498424 19 52497737 [A/G] NM_001199324,NM_198480 ZNF615,ZNF615 EXON Missense_H209Y,Missense_H198Y exm1498425 19 52497745 [T/C] NM_001199324,NM_198480 ZNF615,ZNF615 EXON Missense_Q206R,Missense_Q195R exm1498426 19 52497833 [A/G] NM_001199324,NM_198480 ZNF615,ZNF615 EXON Missense_F177L,Missense_F166L exm1498428 19 52497943 [A/G] NM_001199324,NM_198480 ZNF615,ZNF615 EXON Missense_T140M,Missense_T129M exm2253972 19 52519099 [A/G] NM_025040 ZNF614 EXON Synonymous_Y584Y exm1498455 19 52519103 [A/G] NM_025040 ZNF614 EXON Missense_P583L exm1498456 19 52519149 [T/C] NM_025040 ZNF614 EXON Missense_I568V exm1498479 19 52519608 [T/C] NM_025040 ZNF614 EXON Missense_V415I exm1948680 19 52519644 [T/C] NM_025040 ZNF614 EXON Missense_E403K exm1498500 19 52520183 [T/C] NM_025040 ZNF614 EXON Missense_H223R exm1498503 19 52520240 [A/G] NM_025040 ZNF614 EXON Missense_P204L exm1498507 19 52520337 [A/G] NM_025040 ZNF614 EXON Missense_R172C exm1498508 19 52520372 [T/C] NM_025040 ZNF614 EXON Missense_G160E exm1498509 19 52520397 [T/C] NM_025040 ZNF614 EXON Missense_I152V exm1498513 19 52520507 [A/T] NM_025040 ZNF614 EXON Missense_H115L exm1498518 19 52520568 [A/G] NM_025040 ZNF614 EXON Nonsense_Q95X exm1948688 19 52520595 [T/C] NM_025040 ZNF614 EXON Missense_S86G exm1498520 19 52520607 [T/C] NM_025040 ZNF614 EXON Missense_G82R exm1498522 19 52521296 [A/G] NM_025040 ZNF614 EXON Missense_T68I exm1498535 19 52537004 [T/C] NM_014650 ZNF432 EXON Missense_H643R exm1498543 19 52537083 [A/G] NM_014650 ZNF432 EXON Nonsense_R617X exm1498547 19 52537202 [T/C] NM_014650 ZNF432 EXON Missense_G577D exm1498550 19 52537334 [T/C] NM_014650 ZNF432 EXON Missense_R533Q exm1498552 19 52537418 [T/C] NM_014650 ZNF432 EXON Missense_R505Q exm1498554 19 52537437 [T/C] NM_014650 ZNF432 EXON Missense_G499R exm1498555 19 52537502 [T/C] NM_014650 ZNF432 EXON Missense_R477Q exm1498559 19 52537563 [A/G] NM_014650 ZNF432 EXON Missense_Y457H exm1498564 19 52537624 [T/G] NM_014650 ZNF432 EXON Missense_K436N exm1498566 19 52537650 [A/T] NM_014650 ZNF432 EXON Missense_S428T exm1948705 19 52537751 [T/G] NM_014650 ZNF432 EXON Missense_T394N exm1498571 19 52537764 [T/C] NM_014650 ZNF432 EXON Missense_E390K exm1498579 19 52538091 [A/G] NM_014650 ZNF432 EXON Nonsense_R281X exm1498582 19 52538193 [T/A] NM_014650 ZNF432 EXON Missense_R247W exm1498589 19 52538294 [A/G] NM_014650 ZNF432 EXON Missense_A213V exm1498591 19 52538303 [T/C] NM_014650 ZNF432 EXON Missense_C210Y exm1498594 19 52538395 [T/G] NM_014650 ZNF432 EXON Missense_F179L exm2253973 19 52538428 [A/G] NM_014650 ZNF432 EXON Synonymous_G168G exm1498606 19 52538634 [T/C] NM_014650 ZNF432 EXON Missense_S100G exm1498609 19 52543752 [T/C] NM_014650 ZNF432 EXON Missense_R76Q exm1498614 19 52543833 [T/C] NM_014650 ZNF432 EXON Missense_Y49C exm1498616 19 52544774 [T/C] NM_014650 ZNF432 EXON Missense_R34Q exm1498644 19 52568422 [T/G] NM_001136499 ZNF841 EXON Missense_T905P exm1498655 19 52569084 [T/C] NM_001136499 ZNF841 EXON Missense_N684S exm1498663 19 52569439 [A/C] NM_001136499 ZNF841 EXON Nonsense_E566X exm1498693 19 52570714 [C/G] NM_001136499 ZNF841 EXON Missense_V141L exm2229934 19 52570767 [T/C] NM_001136499 ZNF841 EXON Missense_S123N exm1498697 19 52579317 [T/C] NM_001136499 ZNF841 EXON Missense_C84Y exm1498704 19 52618124 [T/C] NM_178523 ZNF616 EXON Missense_I765V exm1498707 19 52618148 [A/G] NM_178523 ZNF616 EXON Missense_R757C exm1498727 19 52618483 [T/C] NM_178523 ZNF616 EXON Missense_R645H exm2253975 19 52618506 [T/C] NM_178523 ZNF616 EXON Synonymous_Q637Q exm1498750 19 52618609 [T/C] NM_178523 ZNF616 EXON Missense_K603R exm1498754 19 52618670 [T/C] NM_178523 ZNF616 EXON Missense_G583S exm2253976 19 52618671 [A/G] NM_178523 ZNF616 EXON Synonymous_C582C exm1498763 19 52618798 [T/C] NM_178523 ZNF616 EXON Missense_R540Q exm1498764 19 52618845 [T/A] NM_178523 ZNF616 EXON Missense_K524N exm1498767 19 52618879 [A/C] NM_178523 ZNF616 EXON Missense_R513I exm1498780 19 52619065 [T/C] NM_178523 ZNF616 EXON Missense_H451R exm1498782 19 52619176 [T/C] NM_178523 ZNF616 EXON Missense_C414Y exm1498791 19 52619303 [A/G] NM_178523 ZNF616 EXON Missense_R372W exm2229937 19 52619312 [C/G] NM_178523 ZNF616 EXON Missense_V369L exm1498799 19 52619491 [T/C] NM_178523 ZNF616 EXON Missense_R309H exm1498816 19 52619795 [T/C] NM_178523 ZNF616 EXON Missense_T208A exm1498830 19 52620175 [T/G] NM_178523 ZNF616 EXON Missense_D81A exm1498831 19 52620226 [T/C] NM_178523 ZNF616 EXON Missense_N64S exm1498832 19 52620262 [G/C] NM_178523 ZNF616 EXON Missense_C52S exm1498833 19 52620269 [A/G] NM_178523 ZNF616 EXON Missense_P50S exm1948760 19 52627207 [T/C] NM_178523 ZNF616 EXON Missense_M36I exm2272837 19 52627349 [T/C] NM_178523 ZNF616 Silent exm1498843 19 52658231 [T/C] NM_001102657 ZNF836 EXON Missense_R902H exm1498844 19 52658327 [C/G] NM_001102657 ZNF836 EXON Missense_A870G exm1498845 19 52658367 [T/C] NM_001102657 ZNF836 EXON Missense_T857A exm1498852 19 52658547 [A/G] NM_001102657 ZNF836 EXON Missense_R797W exm1498874 19 52659362 [T/C] NM_001102657 ZNF836 EXON Missense_R525H exm1498875 19 52659426 [T/C] NM_001102657 ZNF836 EXON Missense_G504S exm1498892 19 52659872 [T/C] NM_001102657 ZNF836 EXON Missense_E355G exm1498907 19 52660279 [T/C] NM_001102657 ZNF836 EXON Missense_M219I exm1498916 19 52660639 [C/G] NM_001102657 ZNF836 EXON Missense_E99D exm1498920 19 52660715 [A/G] NM_001102657 ZNF836 EXON Missense_T74M exm1498943 19 52709305 [T/C] NM_014225,NR_033500 PPP2R1A,PPP2R1A EXON Missense_H87Y,Silent exm2253977 19 52712828 [A/G] NM_014225,NR_033500 PPP2R1A,PPP2R1A Silent,Silent exm1498956 19 52714726 [A/G] NM_014225,NR_033500 PPP2R1A,PPP2R1A EXON Missense_V162M,Silent exm2253978 19 52714734 [A/G] NM_014225,NR_033500 PPP2R1A,PPP2R1A EXON Synonymous_A164A,Silent exm1499040 19 52772880 [C/G] NM_001010851 ZNF766 EXON Missense_R5P exm1499059 19 52793328 [A/G] NM_001010851 ZNF766 EXON Missense_C95Y exm1499063 19 52793388 [A/C] NM_001010851 ZNF766 EXON Missense_Q115P exm1499069 19 52793466 [A/G] NM_001010851 ZNF766 EXON Missense_S141N exm1499070 19 52793472 [A/G] NM_001010851 ZNF766 EXON Missense_S143N exm1499078 19 52793580 [A/G] NM_001010851 ZNF766 EXON Missense_K179R exm1499080 19 52793636 [G/C] NM_001010851 ZNF766 EXON Missense_V198L exm1499093 19 52793809 [T/G] NM_001010851 ZNF766 EXON Missense_I255M exm1499096 19 52793834 [A/G] NM_001010851 ZNF766 EXON Missense_V264M exm1499100 19 52793976 [A/G] NM_001010851 ZNF766 EXON Missense_S311N exm1499110 19 52794248 [C/G] NM_001010851 ZNF766 EXON Missense_Q402E exm1499128 19 52819102 [A/G] NM_144684 ZNF480 EXON Missense_D72G exm1499134 19 52824846 [A/T] NM_144684 ZNF480 EXON Missense_L115M exm1499139 19 52824940 [A/G] NM_144684 ZNF480 EXON Missense_R146K exm1499140 19 52824955 [A/G] NM_144684 ZNF480 EXON Missense_C151Y exm1499144 19 52825032 [T/C] NM_144684 ZNF480 EXON Missense_P177S exm1948857 19 52825095 [T/C] NM_144684 ZNF480 EXON Missense_L198F exm1499148 19 52825099 [C/G] NM_144684 ZNF480 EXON Missense_R199T exm1948867 19 52825885 [A/G] NM_144684 ZNF480 EXON Missense_G461D exm1499180 19 52825888 [A/G] NM_144684 ZNF480 EXON Missense_K462R exm1499181 19 52825939 [A/G] NM_144684 ZNF480 EXON Missense_G479E exm1499190 19 52852469 [T/C] NM_001161427,NM_001161426,NM_001161425,NM_173530 ZNF610,ZNF610,ZNF610,ZNF610 EXON Missense_S15L,Missense_S15L,Missense_S15L,Missense_S15L exm2253980 19 52856955 [T/C] NM_001161427,NM_001161426,NM_001161425,NM_173530 ZNF610,ZNF610,ZNF610,ZNF610 EXON Synonymous_D28D,Synonymous_D28D,Synonymous_D28D,Synonymous_D28D exm1499206 19 52857623 [A/G] NM_001161427,NM_001161426,NM_001161425,NM_173530 ZNF610,ZNF610,ZNF610,ZNF610 EXON Silent,Missense_V104M,Missense_V104M,Missense_V104M exm1499207 19 52868972 [A/G] NM_001161427,NM_001161426,NM_001161425,NM_173530 ZNF610,ZNF610,ZNF610,ZNF610 EXON Missense_S71N,Missense_S114N,Missense_S114N,Missense_S114N exm1499208 19 52868974 [A/C] NM_001161427,NM_001161426,NM_001161425,NM_173530 ZNF610,ZNF610,ZNF610,ZNF610 EXON Missense_N72H,Missense_N115H,Missense_N115H,Missense_N115H exm1499212 19 52869022 [T/G] NM_001161427,NM_001161426,NM_001161425,NM_173530 ZNF610,ZNF610,ZNF610,ZNF610 EXON Missense_A88S,Missense_A131S,Missense_A131S,Missense_A131S exm2229947 19 52869103 [T/C] NM_001161427,NM_001161426,NM_001161425,NM_173530 ZNF610,ZNF610,ZNF610,ZNF610 EXON Missense_R115C,Missense_R158C,Missense_R158C,Missense_R158C exm1499219 19 52869151 [T/C] NM_001161427,NM_001161426,NM_001161425,NM_173530 ZNF610,ZNF610,ZNF610,ZNF610 EXON Missense_H131Y,Missense_H174Y,Missense_H174Y,Missense_H174Y exm1499220 19 52869152 [A/G] NM_001161427,NM_001161426,NM_001161425,NM_173530 ZNF610,ZNF610,ZNF610,ZNF610 EXON Missense_H131R,Missense_H174R,Missense_H174R,Missense_H174R exm1499222 19 52869241 [T/C] NM_001161427,NM_001161426,NM_001161425,NM_173530 ZNF610,ZNF610,ZNF610,ZNF610 EXON Missense_Y161H,Missense_Y204H,Missense_Y204H,Missense_Y204H exm1499223 19 52869278 [G/C] NM_001161427,NM_001161426,NM_001161425,NM_173530 ZNF610,ZNF610,ZNF610,ZNF610 EXON Missense_R173P,Missense_R216P,Missense_R216P,Missense_R216P exm1499228 19 52869431 [A/G] NM_001161427,NM_001161426,NM_001161425,NM_173530 ZNF610,ZNF610,ZNF610,ZNF610 EXON Missense_K224R,Missense_K267R,Missense_K267R,Missense_K267R exm1499231 19 52869463 [T/C] NM_001161427,NM_001161426,NM_001161425,NM_173530 ZNF610,ZNF610,ZNF610,ZNF610 EXON Missense_H235Y,Missense_H278Y,Missense_H278Y,Missense_H278Y exm1499232 19 52869505 [A/G] NM_001161427,NM_001161426,NM_001161425,NM_173530 ZNF610,ZNF610,ZNF610,ZNF610 EXON Missense_E249K,Missense_E292K,Missense_E292K,Missense_E292K exm1499235 19 52869614 [A/G] NM_001161427,NM_001161426,NM_001161425,NM_173530 ZNF610,ZNF610,ZNF610,ZNF610 EXON Missense_K285R,Missense_K328R,Missense_K328R,Missense_K328R exm1499241 19 52869701 [T/C] NM_001161427,NM_001161426,NM_001161425,NM_173530 ZNF610,ZNF610,ZNF610,ZNF610 EXON Missense_S314L,Missense_S357L,Missense_S357L,Missense_S357L exm1499244 19 52869734 [T/C] NM_001161427,NM_001161426,NM_001161425,NM_173530 ZNF610,ZNF610,ZNF610,ZNF610 EXON Missense_T325I,Missense_T368I,Missense_T368I,Missense_T368I exm1499248 19 52869844 [T/C] NM_001161427,NM_001161426,NM_001161425,NM_173530 ZNF610,ZNF610,ZNF610,ZNF610 EXON Missense_C362R,Missense_C405R,Missense_C405R,Missense_C405R exm1499255 19 52869971 [A/G] NM_001161427,NM_001161426,NM_001161425,NM_173530 ZNF610,ZNF610,ZNF610,ZNF610 EXON Missense_R404Q,Missense_R447Q,Missense_R447Q,Missense_R447Q exm1499258 19 52870011 [G/C] NM_001161427,NM_001161426,NM_001161425,NM_173530 ZNF610,ZNF610,ZNF610,ZNF610 EXON Missense_Q417H,Missense_Q460H,Missense_Q460H,Missense_Q460H exm1499273 19 52877677 [A/G] NM_001145434 ZNF880 EXON Missense_A89T exm1499276 19 52887131 [A/G] NM_001145434 ZNF880 EXON Missense_G100R exm1499278 19 52887282 [A/G] NM_001145434 ZNF880 EXON Missense_Y150C exm1499279 19 52887294 [A/G] NM_001145434 ZNF880 EXON Missense_K154R exm1499282 19 52887390 [A/G] NM_001145434 ZNF880 EXON Missense_C186Y exm1499285 19 52887427 [A/C] NM_001145434 ZNF880 EXON Missense_R198S exm1499286 19 52887437 [A/C] NM_001145434 ZNF880 EXON Missense_N202H exm1499290 19 52887603 [A/G] NM_001145434 ZNF880 EXON Missense_R257Q exm1948902 19 52887885 [T/C] NM_001145434 ZNF880 EXON Missense_L351P exm1499307 19 52887897 [A/G] NM_001145434 ZNF880 EXON Missense_N355S exm1499314 19 52887950 [A/G] NM_001145434 ZNF880 EXON Missense_I373V exm2275113 19 52888034 [A/G] NM_001145434 ZNF880 EXON Missense_M401V exm1499326 19 52888065 [A/G] NM_001145434 ZNF880 EXON Missense_N411S exm1499327 19 52888069 [A/C] NM_001145434 ZNF880 EXON Missense_E412D exm1499331 19 52888080 [T/C] NM_001145434 ZNF880 EXON Missense_A416V exm2229952 19 52888282 [G/C] NM_001145434 ZNF880 EXON Missense_H483Q exm2260882 19 52901905 [A/G] NM_032423 ZNF528 Silent exm1499359 19 52909795 [C/G] NM_032423 ZNF528 EXON Missense_T57S exm1499373 19 52918520 [A/G] NM_032423 ZNF528 EXON Missense_V139I exm1499376 19 52918554 [A/C] NM_032423 ZNF528 EXON Missense_K150T exm1499378 19 52918659 [T/C] NM_032423 ZNF528 EXON Missense_A185V exm2229954 19 52918891 [T/G] NM_032423 ZNF528 EXON Missense_I262M exm1499392 19 52918929 [A/G] NM_032423 ZNF528 EXON Missense_D275G exm1499396 19 52918962 [A/C] NM_032423 ZNF528 EXON Missense_Q286P exm1499405 19 52919111 [T/C] NM_032423 ZNF528 EXON Missense_R336C exm1499409 19 52919164 [G/C] NM_032423 ZNF528 EXON Nonsense_Y353X exm1499410 19 52919199 [A/G] NM_032423 ZNF528 EXON Missense_R365H exm1499419 19 52919321 [A/G] NM_032423 ZNF528 EXON Missense_E406K exm1499421 19 52919361 [A/G] NM_032423 ZNF528 EXON Missense_S419N exm1499424 19 52919387 [T/C] NM_032423 ZNF528 EXON Nonsense_R428X exm1499425 19 52919433 [C/G] NM_032423 ZNF528 EXON Missense_G443A exm1499427 19 52919447 [A/G] NM_032423 ZNF528 EXON Missense_E448K exm1499445 19 52919624 [A/T] NM_032423 ZNF528 EXON Missense_N507Y exm1499449 19 52919724 [A/G] NM_032423 ZNF528 EXON Missense_Q540R exm1499450 19 52919758 [T/G] NM_032423 ZNF528 EXON Missense_C551W exm1499463 19 52919972 [T/C] NM_032423 ZNF528 EXON Missense_H623Y exm1499483 19 52938417 [A/G] NM_001143939,NM_001143938 ZNF534,ZNF534 EXON Missense_I89V,Missense_I76V exm1948957 19 52938429 [G/C] NM_001143939,NM_001143938 ZNF534,ZNF534 EXON Missense_D93H,Missense_D80H exm1499484 19 52938439 [A/G] NM_001143939,NM_001143938 ZNF534,ZNF534 EXON Missense_E96G,Missense_E83G exm1499490 19 52941073 [C/G] NM_001143939,NM_001143938 ZNF534,ZNF534 EXON Missense_W133C,Missense_W120C exm1499491 19 52941074 [T/C] NM_001143939,NM_001143938 ZNF534,ZNF534 EXON Nonsense_Q134X,Nonsense_Q121X exm1499495 19 52941171 [T/C] NM_001143939,NM_001143938 ZNF534,ZNF534 EXON Missense_F166S,Missense_F153S exm1499501 19 52941335 [T/C] NM_001143939,NM_001143938 ZNF534,ZNF534 EXON Missense_H221Y,Missense_H208Y exm1499504 19 52941423 [C/G] NM_001143939,NM_001143938 ZNF534,ZNF534 EXON Missense_T250S,Missense_T237S exm1499516 19 52941540 [A/G] NM_001143939,NM_001143938 ZNF534,ZNF534 EXON Missense_G289E,Missense_G276E exm1499523 19 52941827 [G/C] NM_001143939,NM_001143938 ZNF534,ZNF534 EXON Missense_H385D,Missense_H372D exm2253982 19 52941847 [T/A] NM_001143939,NM_001143938 ZNF534,ZNF534 EXON Synonymous_G391G,Synonymous_G378G exm2229958 19 52941943 [G/C] NM_001143939,NM_001143938 ZNF534,ZNF534 EXON Nonsense_Y423X,Nonsense_Y410X exm1499549 19 52942535 [T/G] NM_001143939,NM_001143938 ZNF534,ZNF534 EXON Missense_C621G,Missense_C608G exm1499550 19 52942562 [T/C] NM_001143939,NM_001143938 ZNF534,ZNF534 EXON Missense_R630W,Missense_R617W exm1499582 19 53013899 [A/G] NM_001099694 ZNF578 EXON Missense_M89V exm1499585 19 53014019 [A/G] NM_001099694 ZNF578 EXON Missense_M129V exm1499587 19 53014055 [T/C] NM_001099694 ZNF578 EXON Nonsense_R141X exm1499595 19 53014187 [A/G] NM_001099694 ZNF578 EXON Missense_N185D exm1499599 19 53014224 [C/G] NM_001099694 ZNF578 EXON Missense_S197C exm1499600 19 53014227 [A/G] NM_001099694 ZNF578 EXON Missense_C198Y exm1499605 19 53014346 [A/G] NM_001099694 ZNF578 EXON Missense_E238K exm1499648 19 53015334 [A/G] NM_001099694 ZNF578 EXON Missense_Y567C exm1499653 19 53015384 [A/G] NM_001099694 ZNF578 EXON Missense_I584V exm1499667 19 53056465 [A/G] NM_001039886 ZNF808 EXON Missense_G99E exm2229964 19 53056485 [A/G] NM_001039886 ZNF808 EXON Missense_I106V exm1499677 19 53056744 [A/C] NM_001039886 ZNF808 EXON Missense_T192K exm1499700 19 53057316 [T/C] NM_001039886 ZNF808 EXON Missense_H383Y exm1499716 19 53057722 [A/G] NM_001039886 ZNF808 EXON Missense_N518S exm1499719 19 53057751 [A/T] NM_001039886 ZNF808 EXON Missense_Y528N exm1499720 19 53057769 [A/G] NM_001039886 ZNF808 EXON Missense_T534A exm1499721 19 53057794 [T/C] NM_001039886 ZNF808 EXON Missense_T542M exm1499750 19 53058429 [T/C] NM_001039886 ZNF808 EXON Missense_R754C exm2268208 19 53070617 [A/G] exm1499789 19 53085635 [A/G] NM_018260,NM_001172655 ZNF701,ZNF701 EXON Missense_G108D,Missense_G174D exm1499790 19 53085659 [T/C] NM_018260,NM_001172655 ZNF701,ZNF701 EXON Missense_T116I,Missense_T182I exm1499803 19 53085847 [T/C] NM_018260,NM_001172655 ZNF701,ZNF701 EXON Nonsense_R179X,Nonsense_R245X exm1499808 19 53085935 [T/A] NM_018260,NM_001172655 ZNF701,ZNF701 EXON Missense_V208E,Missense_V274E exm2253984 19 53086032 [T/C] NM_018260,NM_001172655 ZNF701,ZNF701 EXON Synonymous_D240D,Synonymous_D306D exm1499818 19 53086062 [A/G] NM_018260,NM_001172655 ZNF701,ZNF701 EXON Synonymous_K250K,Synonymous_K316K exm2253985 19 53086062 [A/G] NM_018260,NM_001172655 ZNF701,ZNF701 EXON Synonymous_K250K,Synonymous_K316K exm1499819 19 53086063 [T/G] NM_018260,NM_001172655 ZNF701,ZNF701 EXON Missense_D251Y,Missense_D317Y exm1499820 19 53086076 [A/G] NM_018260,NM_001172655 ZNF701,ZNF701 EXON Missense_K255R,Missense_K321R exm2229971 19 53086078 [T/C] NM_018260,NM_001172655 ZNF701,ZNF701 EXON Nonsense_R256X,Nonsense_R322X exm1499825 19 53086185 [T/G] NM_018260,NM_001172655 ZNF701,ZNF701 EXON Missense_I291M,Missense_I357M exm2229972 19 53086188 [A/T] NM_018260,NM_001172655 ZNF701,ZNF701 EXON Missense_H292Q,Missense_H358Q exm2273576 19 53086946 [T/G] NM_018260,NM_001172655 ZNF701,ZNF701 EXON Silent,Silent exm1499882 19 53116331 [T/C] NM_001105552,NM_001105551,NM_001242538,NM_001105549,NM_001105550,NM_018300,NM_001242531,NM_001105554,NM_001105553 ZNF83,ZNF83,ZNF83,ZNF83,ZNF83,ZNF83,ZNF83,ZNF83,ZNF83 EXON Missense_D496G,Missense_D496G,Missense_D468G,Missense_D496G,Missense_D496G,Missense_D496G,Missense_D468G,Missense_D468G,Missense_D468G exm1499884 19 53116335 [A/G] NM_001105552,NM_001105551,NM_001242538,NM_001105549,NM_001105550,NM_018300,NM_001242531,NM_001105554,NM_001105553 ZNF83,ZNF83,ZNF83,ZNF83,ZNF83,ZNF83,ZNF83,ZNF83,ZNF83 EXON Missense_R495C,Missense_R495C,Missense_R467C,Missense_R495C,Missense_R495C,Missense_R495C,Missense_R467C,Missense_R467C,Missense_R467C exm1499887 19 53116388 [A/G] NM_001105552,NM_001105551,NM_001242538,NM_001105549,NM_001105550,NM_018300,NM_001242531,NM_001105554,NM_001105553 ZNF83,ZNF83,ZNF83,ZNF83,ZNF83,ZNF83,ZNF83,ZNF83,ZNF83 EXON Missense_A477V,Missense_A477V,Missense_A449V,Missense_A477V,Missense_A477V,Missense_A477V,Missense_A449V,Missense_A449V,Missense_A449V exm1499894 19 53116514 [T/C] NM_001105552,NM_001105551,NM_001242538,NM_001105549,NM_001105550,NM_018300,NM_001242531,NM_001105554,NM_001105553 ZNF83,ZNF83,ZNF83,ZNF83,ZNF83,ZNF83,ZNF83,ZNF83,ZNF83 EXON Missense_G435E,Missense_G435E,Missense_G407E,Missense_G435E,Missense_G435E,Missense_G435E,Missense_G407E,Missense_G407E,Missense_G407E exm1499906 19 53116643 [T/C] NM_001105552,NM_001105551,NM_001242538,NM_001105549,NM_001105550,NM_018300,NM_001242531,NM_001105554,NM_001105553 ZNF83,ZNF83,ZNF83,ZNF83,ZNF83,ZNF83,ZNF83,ZNF83,ZNF83 EXON Missense_H392R,Missense_H392R,Missense_H364R,Missense_H392R,Missense_H392R,Missense_H392R,Missense_H364R,Missense_H364R,Missense_H364R exm1499910 19 53116700 [T/G] NM_001105552,NM_001105551,NM_001242538,NM_001105549,NM_001105550,NM_018300,NM_001242531,NM_001105554,NM_001105553 ZNF83,ZNF83,ZNF83,ZNF83,ZNF83,ZNF83,ZNF83,ZNF83,ZNF83 EXON Missense_Y373S,Missense_Y373S,Missense_Y345S,Missense_Y373S,Missense_Y373S,Missense_Y373S,Missense_Y345S,Missense_Y345S,Missense_Y345S exm1499912 19 53116748 [T/C] NM_001105552,NM_001105551,NM_001242538,NM_001105549,NM_001105550,NM_018300,NM_001242531,NM_001105554,NM_001105553 ZNF83,ZNF83,ZNF83,ZNF83,ZNF83,ZNF83,ZNF83,ZNF83,ZNF83 EXON Missense_N357S,Missense_N357S,Missense_N329S,Missense_N357S,Missense_N357S,Missense_N357S,Missense_N329S,Missense_N329S,Missense_N329S exm1499930 19 53116964 [C/G] NM_001105552,NM_001105551,NM_001242538,NM_001105549,NM_001105550,NM_018300,NM_001242531,NM_001105554,NM_001105553 ZNF83,ZNF83,ZNF83,ZNF83,ZNF83,ZNF83,ZNF83,ZNF83,ZNF83 EXON Missense_G285A,Missense_G285A,Silent,Missense_G285A,Missense_G285A,Missense_G285A,Silent,Silent,Silent exm1499934 19 53116976 [A/C] NM_001105552,NM_001105551,NM_001242538,NM_001105549,NM_001105550,NM_018300,NM_001242531,NM_001105554,NM_001105553 ZNF83,ZNF83,ZNF83,ZNF83,ZNF83,ZNF83,ZNF83,ZNF83,ZNF83 EXON Missense_R281I,Missense_R281I,Silent,Missense_R281I,Missense_R281I,Missense_R281I,Silent,Silent,Silent exm1499936 19 53116988 [A/G] NM_001105552,NM_001105551,NM_001242538,NM_001105549,NM_001105550,NM_018300,NM_001242531,NM_001105554,NM_001105553 ZNF83,ZNF83,ZNF83,ZNF83,ZNF83,ZNF83,ZNF83,ZNF83,ZNF83 EXON Missense_A277V,Missense_A277V,Silent,Missense_A277V,Missense_A277V,Missense_A277V,Silent,Silent,Silent exm1499969 19 53117396 [A/C] NM_001105552,NM_001105551,NM_001242538,NM_001105549,NM_001105550,NM_018300,NM_001242531,NM_001105554,NM_001105553 ZNF83,ZNF83,ZNF83,ZNF83,ZNF83,ZNF83,ZNF83,ZNF83,ZNF83 EXON Missense_R141I,Missense_R141I,Missense_R141I,Missense_R141I,Missense_R141I,Missense_R141I,Missense_R141I,Missense_R141I,Missense_R141I exm1499971 19 53117462 [A/G] NM_001105552,NM_001105551,NM_001242538,NM_001105549,NM_001105550,NM_018300,NM_001242531,NM_001105554,NM_001105553 ZNF83,ZNF83,ZNF83,ZNF83,ZNF83,ZNF83,ZNF83,ZNF83,ZNF83 EXON Missense_T119M,Missense_T119M,Missense_T119M,Missense_T119M,Missense_T119M,Missense_T119M,Missense_T119M,Missense_T119M,Missense_T119M exm1499975 19 53117525 [T/C] NM_001105552,NM_001105551,NM_001242538,NM_001105549,NM_001105550,NM_018300,NM_001242531,NM_001105554,NM_001105553 ZNF83,ZNF83,ZNF83,ZNF83,ZNF83,ZNF83,ZNF83,ZNF83,ZNF83 EXON Missense_R98H,Missense_R98H,Missense_R98H,Missense_R98H,Missense_R98H,Missense_R98H,Missense_R98H,Missense_R98H,Missense_R98H exm1499976 19 53117531 [T/C] NM_001105552,NM_001105551,NM_001242538,NM_001105549,NM_001105550,NM_018300,NM_001242531,NM_001105554,NM_001105553 ZNF83,ZNF83,ZNF83,ZNF83,ZNF83,ZNF83,ZNF83,ZNF83,ZNF83 EXON Missense_S96N,Missense_S96N,Missense_S96N,Missense_S96N,Missense_S96N,Missense_S96N,Missense_S96N,Missense_S96N,Missense_S96N exm1499977 19 53117549 [C/G] NM_001105552,NM_001105551,NM_001242538,NM_001105549,NM_001105550,NM_018300,NM_001242531,NM_001105554,NM_001105553 ZNF83,ZNF83,ZNF83,ZNF83,ZNF83,ZNF83,ZNF83,ZNF83,ZNF83 EXON Missense_T90R,Missense_T90R,Missense_T90R,Missense_T90R,Missense_T90R,Missense_T90R,Missense_T90R,Missense_T90R,Missense_T90R exm1499978 19 53117609 [A/G] NM_001105552,NM_001105551,NM_001242538,NM_001105549,NM_001105550,NM_018300,NM_001242531,NM_001105554,NM_001105553 ZNF83,ZNF83,ZNF83,ZNF83,ZNF83,ZNF83,ZNF83,ZNF83,ZNF83 EXON Missense_T70I,Missense_T70I,Missense_T70I,Missense_T70I,Missense_T70I,Missense_T70I,Missense_T70I,Missense_T70I,Missense_T70I exm2229979 19 53117817 [T/C] NM_001105552,NM_001105551,NM_001242538,NM_001105549,NM_001105550,NM_018300,NM_001242531,NM_001105554,NM_001105553 ZNF83,ZNF83,ZNF83,ZNF83,ZNF83,ZNF83,ZNF83,ZNF83,ZNF83 EXON Missense_M1V,Missense_M1V,Missense_M1V,Missense_M1V,Missense_M1V,Missense_M1V,Missense_M1V,Missense_M1V,Missense_M1V exm1500001 19 53208353 [A/C] NM_030972,NM_001161499,NM_001161501,NM_001161500 ZNF611,ZNF611,ZNF611,ZNF611 EXON Missense_C652F,Missense_C652F,Missense_C583F,Missense_C652F exm1500003 19 53208362 [G/C] NM_030972,NM_001161499,NM_001161501,NM_001161500 ZNF611,ZNF611,ZNF611,ZNF611 EXON Missense_S649C,Missense_S649C,Missense_S580C,Missense_S649C exm1500038 19 53208925 [G/C] NM_030972,NM_001161499,NM_001161501,NM_001161500 ZNF611,ZNF611,ZNF611,ZNF611 EXON Missense_K461N,Missense_K461N,Missense_K392N,Missense_K461N exm1500042 19 53209023 [T/C] NM_030972,NM_001161499,NM_001161501,NM_001161500 ZNF611,ZNF611,ZNF611,ZNF611 EXON Missense_N429D,Missense_N429D,Missense_N360D,Missense_N429D exm1500046 19 53209064 [T/C] NM_030972,NM_001161499,NM_001161501,NM_001161500 ZNF611,ZNF611,ZNF611,ZNF611 EXON Missense_R415Q,Missense_R415Q,Missense_R346Q,Missense_R415Q exm1500080 19 53209712 [T/C] NM_030972,NM_001161499,NM_001161501,NM_001161500 ZNF611,ZNF611,ZNF611,ZNF611 EXON Missense_R199K,Missense_R199K,Missense_R130K,Missense_R199K exm1500160 19 53269486 [T/C] NM_198457 ZNF600 EXON Missense_R508H exm1949107 19 53269678 [T/A] NM_198457 ZNF600 EXON Missense_Y444F exm2229985 19 53269960 [T/C] NM_198457 ZNF600 EXON Missense_R350K exm1500193 19 53270257 [T/C] NM_198457 ZNF600 EXON Missense_C251Y exm1500201 19 53270349 [A/C] NM_198457 ZNF600 EXON Missense_C220W exm1500214 19 53270558 [A/G] NM_198457 ZNF600 EXON Nonsense_Q151X exm1500220 19 53270623 [C/G] NM_198457 ZNF600 EXON Missense_P129R exm1500222 19 53270650 [A/G] NM_198457 ZNF600 EXON Missense_S120L exm1500224 19 53270692 [T/C] NM_198457 ZNF600 EXON Missense_K106R exm1500226 19 53270700 [C/G] NM_198457 ZNF600 EXON Missense_I103M exm-rs7507442 19 53278953 [A/G] NM_198457 ZNF600 Silent exm1500259 19 53303254 [A/G] NM_006969,NR_036599,NR_036600 ZNF28,ZNF28,ZNF28 EXON Missense_T615I,Silent,Silent exm1500308 19 53304226 [A/G] NM_006969,NR_036599,NR_036600 ZNF28,ZNF28,ZNF28 EXON Missense_A291V,Silent,Silent exm1500309 19 53304256 [T/C] NM_006969,NR_036599,NR_036600 ZNF28,ZNF28,ZNF28 EXON Missense_G281D,Silent,Silent exm1500322 19 53304443 [G/C] NM_006969,NR_036599,NR_036600 ZNF28,ZNF28,ZNF28 EXON Missense_E219Q,Silent,Silent exm1500323 19 53304448 [T/C] NM_006969,NR_036599,NR_036600 ZNF28,ZNF28,ZNF28 EXON Missense_C217Y,Silent,Silent exm-IND19-57996280 19 53304469 [I/D] NM_006969,NR_036599,NR_036600 ZNF28,ZNF28,ZNF28 EXON exm1500351 19 53304936 [T/C] NM_006969,NR_036599,NR_036600 ZNF28,ZNF28,ZNF28 EXON Missense_M54I,Silent,Silent exm1949139 19 53344556 [A/C] NM_001008801,NM_199132 ZNF468,ZNF468 EXON Missense_V331F,Missense_V278F exm1500385 19 53344561 [A/C] NM_001008801,NM_199132 ZNF468,ZNF468 EXON Missense_C329F,Missense_C276F exm1500396 19 53344844 [T/C] NM_001008801,NM_199132 ZNF468,ZNF468 EXON Missense_I235V,Missense_I182V exm1500397 19 53344852 [T/A] NM_001008801,NM_199132 ZNF468,ZNF468 EXON Missense_K232I,Missense_K179I exm1500401 19 53344904 [A/G] NM_001008801,NM_199132 ZNF468,ZNF468 EXON Missense_F215L,Missense_F162L exm1500403 19 53344919 [T/G] NM_001008801,NM_199132 ZNF468,ZNF468 EXON Missense_M210L,Missense_M157L exm1500432 19 53345321 [T/G] NM_001008801,NM_199132 ZNF468,ZNF468 EXON Synonymous_R76R,Synonymous_R23R exm2253987 19 53345321 [T/G] NM_001008801,NM_199132 ZNF468,ZNF468 EXON Synonymous_R76R,Synonymous_R23R exm1500433 19 53345371 [A/G] NM_001008801,NM_199132 ZNF468,ZNF468 EXON Missense_S59L,Missense_S6L exm1500437 19 53352341 [G/C] NM_001008801,NM_199132 ZNF468,ZNF468 EXON Synonymous_L47L,Silent exm2229991 19 53383865 [A/G] NM_207333 ZNF320 EXON Missense_P505L exm1500482 19 53384465 [T/G] NM_207333 ZNF320 EXON Missense_E305A exm1500490 19 53384744 [T/C] NM_207333 ZNF320 EXON Missense_R212K exm1500492 19 53384768 [A/G] NM_207333 ZNF320 EXON Missense_L204P exm1500493 19 53384772 [A/G] NM_207333 ZNF320 EXON Missense_H203Y exm2229995 19 53385146 [A/G] NM_207333 ZNF320 EXON Missense_A78V exm1500543 19 53432250 [T/C] NR_037805,NM_001202473 ZNF321P,ZNF816-ZNF321P EXON Silent,Missense_R203H exm1500551 19 53432385 [A/G] NR_037805,NM_001202473 ZNF321P,ZNF816-ZNF321P EXON Silent,Missense_S158F exm1500555 19 53432449 [G/C] NR_037805,NM_001202473 ZNF321P,ZNF816-ZNF321P EXON Silent,Missense_G137R exm1500559 19 53432515 [A/T] NR_037805,NM_001202473 ZNF321P,ZNF816-ZNF321P EXON Silent,Missense_F115I exm1500568 19 53453091 [T/C] NM_001202473,NM_001031665,NM_001202456,NM_001202457 ZNF816-ZNF321P,ZNF816,ZNF816,ZNF816 EXON Silent,Missense_R646K,Missense_R646K,Missense_R646K exm1500573 19 53453131 [A/G] NM_001202473,NM_001031665,NM_001202456,NM_001202457 ZNF816-ZNF321P,ZNF816,ZNF816,ZNF816 EXON Silent,Nonsense_Q633X,Nonsense_Q633X,Nonsense_Q633X exm2229997 19 53453323 [T/C] NM_001202473,NM_001031665,NM_001202456,NM_001202457 ZNF816-ZNF321P,ZNF816,ZNF816,ZNF816 EXON Silent,Missense_K569E,Missense_K569E,Missense_K569E exm1500588 19 53453403 [A/C] NM_001202473,NM_001031665,NM_001202456,NM_001202457 ZNF816-ZNF321P,ZNF816,ZNF816,ZNF816 EXON Silent,Missense_C542F,Missense_C542F,Missense_C542F exm1500607 19 53453764 [T/C] NM_001202473,NM_001031665,NM_001202456,NM_001202457 ZNF816-ZNF321P,ZNF816,ZNF816,ZNF816 EXON Silent,Missense_E422K,Missense_E422K,Missense_E422K exm1500633 19 53454168 [T/C] NM_001202473,NM_001031665,NM_001202456,NM_001202457 ZNF816-ZNF321P,ZNF816,ZNF816,ZNF816 EXON Silent,Missense_C287Y,Missense_C287Y,Missense_C287Y exm1500638 19 53454237 [T/C] NM_001202473,NM_001031665,NM_001202456,NM_001202457 ZNF816-ZNF321P,ZNF816,ZNF816,ZNF816 EXON Silent,Missense_K264R,Missense_K264R,Missense_K264R exm1500639 19 53454254 [T/G] NM_001202473,NM_001031665,NM_001202456,NM_001202457 ZNF816-ZNF321P,ZNF816,ZNF816,ZNF816 EXON Silent,Missense_K258N,Missense_K258N,Missense_K258N exm1500644 19 53454321 [T/C] NM_001202473,NM_001031665,NM_001202456,NM_001202457 ZNF816-ZNF321P,ZNF816,ZNF816,ZNF816 EXON Silent,Missense_K236R,Missense_K236R,Missense_K236R exm1500646 19 53454370 [A/G] NM_001202473,NM_001031665,NM_001202456,NM_001202457 ZNF816-ZNF321P,ZNF816,ZNF816,ZNF816 EXON Silent,Nonsense_Q220X,Nonsense_Q220X,Nonsense_Q220X exm1500647 19 53454387 [G/C] NM_001202473,NM_001031665,NM_001202456,NM_001202457 ZNF816-ZNF321P,ZNF816,ZNF816,ZNF816 EXON Silent,Missense_S214C,Missense_S214C,Missense_S214C exm1500654 19 53454475 [T/C] NM_001202473,NM_001031665,NM_001202456,NM_001202457 ZNF816-ZNF321P,ZNF816,ZNF816,ZNF816 EXON Silent,Missense_G185S,Missense_G185S,Missense_G185S exm1500664 19 53454762 [A/G] NM_001202473,NM_001031665,NM_001202456,NM_001202457 ZNF816-ZNF321P,ZNF816,ZNF816,ZNF816 EXON Silent,Missense_T89M,Missense_T89M,Missense_T89M exm1500666 19 53454789 [T/A] NM_001202473,NM_001031665,NM_001202456,NM_001202457 ZNF816-ZNF321P,ZNF816,ZNF816,ZNF816 EXON Silent,Missense_I80N,Missense_I80N,Missense_I80N exm1949196 19 53456126 [A/C] NM_001202473,NM_001031665,NM_001202456,NM_001202457 ZNF816-ZNF321P,ZNF816,ZNF816,ZNF816 EXON Missense_R23L,Missense_R23L,Missense_R23L,Missense_R23L exm1500673 19 53456127 [A/G] NM_001202473,NM_001031665,NM_001202456,NM_001202457 ZNF816-ZNF321P,ZNF816,ZNF816,ZNF816 EXON Missense_R23C,Missense_R23C,Missense_R23C,Missense_R23C exm2229999 19 53459336 [A/G] NM_001202473,NM_001031665,NM_001202456,NM_001202457 ZNF816-ZNF321P,ZNF816,ZNF816,ZNF816 EXON Missense_R3C,Missense_R3C,Missense_R3C,Missense_R3C exm2230000 19 53518356 [T/C] NM_152473 ERVV-1 EXON Missense_P338L exm2230004 19 53518590 [T/C] NM_152473 ERVV-1 EXON Missense_I416T exm2272801 19 53539860 [T/C] exm1500710 19 53554075 [A/G] NM_001191055 ERVV-2 EXON Missense_Q524R exm1500725 19 53571679 [T/C] NM_198893,NM_001102603,NM_033288 ZNF160,ZNF160,ZNF160 EXON Missense_K703R,Missense_K703R,Missense_K703R exm1500726 19 53571686 [T/C] NM_198893,NM_001102603,NM_033288 ZNF160,ZNF160,ZNF160 EXON Missense_G701R,Missense_G701R,Missense_G701R exm1500730 19 53571749 [T/C] NM_198893,NM_001102603,NM_033288 ZNF160,ZNF160,ZNF160 EXON Missense_N680D,Missense_N680D,Missense_N680D exm1500735 19 53572183 [T/C] NM_198893,NM_001102603,NM_033288 ZNF160,ZNF160,ZNF160 EXON Missense_K535R,Missense_K535R,Missense_K535R exm1500739 19 53572288 [T/C] NM_198893,NM_001102603,NM_033288 ZNF160,ZNF160,ZNF160 EXON Missense_R500Q,Missense_R500Q,Missense_R500Q exm1500752 19 53572792 [T/C] NM_198893,NM_001102603,NM_033288 ZNF160,ZNF160,ZNF160 EXON Missense_R332Q,Missense_R332Q,Missense_R332Q exm1500768 19 53573187 [T/G] NM_198893,NM_001102603,NM_033288 ZNF160,ZNF160,ZNF160 EXON Missense_K200N,Missense_K200N,Missense_K200N exm1500770 19 53573198 [T/C] NM_198893,NM_001102603,NM_033288 ZNF160,ZNF160,ZNF160 EXON Missense_G197S,Missense_G197S,Missense_G197S exm1500773 19 53573236 [T/C] NM_198893,NM_001102603,NM_033288 ZNF160,ZNF160,ZNF160 EXON Missense_S184N,Missense_S184N,Missense_S184N exm1500774 19 53573285 [T/C] NM_198893,NM_001102603,NM_033288 ZNF160,ZNF160,ZNF160 EXON Missense_D168N,Missense_D168N,Missense_D168N exm1500778 19 53573311 [T/C] NM_198893,NM_001102603,NM_033288 ZNF160,ZNF160,ZNF160 EXON Missense_Q159R,Missense_Q159R,Missense_Q159R exm1500781 19 53573403 [C/G] NM_198893,NM_001102603,NM_033288 ZNF160,ZNF160,ZNF160 EXON Missense_D128E,Missense_D128E,Missense_D128E exm1500783 19 53573417 [C/G] NM_198893,NM_001102603,NM_033288 ZNF160,ZNF160,ZNF160 EXON Missense_P124A,Missense_P124A,Missense_P124A exm1500800 19 53577419 [C/G] NM_198893,NM_001102603,NM_033288 ZNF160,ZNF160,ZNF160 EXON Missense_P82R,Missense_P82R,Missense_P82R exm1500801 19 53577420 [A/G] NM_198893,NM_001102603,NM_033288 ZNF160,ZNF160,ZNF160 EXON Missense_P82S,Missense_P82S,Missense_P82S exm1500802 19 53577422 [A/G] NM_198893,NM_001102603,NM_033288 ZNF160,ZNF160,ZNF160 EXON Missense_T81M,Missense_T81M,Missense_T81M exm1500812 19 53578432 [T/C] NM_198893,NM_001102603,NM_033288 ZNF160,ZNF160,ZNF160 EXON Missense_R7Q,Missense_R7Q,Missense_R7Q exm1500813 19 53578433 [A/G] NM_198893,NM_001102603,NM_033288 ZNF160,ZNF160,ZNF160 EXON Missense_R7W,Missense_R7W,Missense_R7W exm1500826 19 53611719 [T/C] NM_001136038,NR_028343,NM_001164309,NM_018355 ZNF415,ZNF415,ZNF415,ZNF415 EXON Missense_S527G,Silent,Missense_S527G,Missense_S527G exm1500832 19 53611802 [T/G] NM_001136038,NR_028343,NM_001164309,NM_018355 ZNF415,ZNF415,ZNF415,ZNF415 EXON Missense_N499T,Silent,Missense_N499T,Missense_N499T exm1500839 19 53612055 [T/C] NM_001136038,NR_028343,NM_001164309,NM_018355 ZNF415,ZNF415,ZNF415,ZNF415 EXON Missense_N415D,Silent,Missense_N415D,Missense_N415D exm1500856 19 53612426 [T/C] NM_001136038,NR_028343,NM_001164309,NM_018355 ZNF415,ZNF415,ZNF415,ZNF415 EXON Missense_R291Q,Silent,Missense_R291Q,Missense_R291Q exm2230014 19 53612427 [A/G] NM_001136038,NR_028343,NM_001164309,NM_018355 ZNF415,ZNF415,ZNF415,ZNF415 EXON Missense_R291W,Silent,Missense_R291W,Missense_R291W exm1500861 19 53612490 [T/C] NM_001136038,NR_028343,NM_001164309,NM_018355 ZNF415,ZNF415,ZNF415,ZNF415 EXON Missense_K270E,Silent,Missense_K270E,Missense_K270E exm1949269 19 53612562 [A/G] NM_001136038,NR_028343,NM_001164309,NM_018355 ZNF415,ZNF415,ZNF415,ZNF415 EXON Missense_C246R,Silent,Missense_C246R,Missense_C246R exm1500869 19 53612598 [A/G] NM_001136038,NR_028343,NM_001164309,NM_018355 ZNF415,ZNF415,ZNF415,ZNF415 EXON Missense_R234C,Silent,Missense_R234C,Missense_R234C exm1500870 19 53612609 [T/C] NM_001136038,NR_028343,NM_001164309,NM_018355 ZNF415,ZNF415,ZNF415,ZNF415 EXON Missense_H230R,Silent,Missense_H230R,Missense_H230R exm1500871 19 53612634 [T/C] NM_001136038,NR_028343,NM_001164309,NM_018355 ZNF415,ZNF415,ZNF415,ZNF415 EXON Missense_D222N,Silent,Missense_D222N,Missense_D222N exm1500878 19 53612745 [T/C] NM_001136038,NR_028343,NM_001164309,NM_018355 ZNF415,ZNF415,ZNF415,ZNF415 EXON Missense_I185V,Silent,Missense_I185V,Missense_I185V exm1500879 19 53612757 [T/G] NM_001136038,NR_028343,NM_001164309,NM_018355 ZNF415,ZNF415,ZNF415,ZNF415 EXON Missense_I181L,Silent,Missense_I181L,Missense_I181L exm1500881 19 53612786 [T/C] NM_001136038,NR_028343,NM_001164309,NM_018355 ZNF415,ZNF415,ZNF415,ZNF415 EXON Missense_H171R,Silent,Missense_H171R,Missense_H171R exm1500883 19 53612855 [T/G] NM_001136038,NR_028343,NM_001164309,NM_018355 ZNF415,ZNF415,ZNF415,ZNF415 EXON Missense_H148P,Silent,Missense_H148P,Missense_H148P exm1500884 19 53612859 [G/C] NM_001136038,NR_028343,NM_001164309,NM_018355 ZNF415,ZNF415,ZNF415,ZNF415 EXON Missense_P147A,Silent,Missense_P147A,Missense_P147A exm1500891 19 53613048 [A/T] NM_001136038,NR_028343,NM_001164309,NM_018355 ZNF415,ZNF415,ZNF415,ZNF415 EXON Missense_F84I,Silent,Missense_F84I,Missense_F84I exm1500893 19 53613113 [T/C] NM_001136038,NR_028343,NM_001164309,NM_018355 ZNF415,ZNF415,ZNF415,ZNF415 EXON Missense_G62D,Silent,Missense_G62D,Missense_G62D exm1500953 19 53644456 [A/G] NM_032584,NM_001172675,NM_001172674 ZNF347,ZNF347,ZNF347 EXON Missense_M542T,Missense_M543T,Missense_M543T exm1500962 19 53644640 [T/C] NM_032584,NM_001172675,NM_001172674 ZNF347,ZNF347,ZNF347 EXON Missense_G481R,Missense_G482R,Missense_G482R exm1500974 19 53644763 [T/C] NM_032584,NM_001172675,NM_001172674 ZNF347,ZNF347,ZNF347 EXON Missense_V440I,Missense_V441I,Missense_V441I exm1500982 19 53644892 [T/C] NM_032584,NM_001172675,NM_001172674 ZNF347,ZNF347,ZNF347 EXON Missense_G397R,Missense_G398R,Missense_G398R exm1500983 19 53644927 [T/C] NM_032584,NM_001172675,NM_001172674 ZNF347,ZNF347,ZNF347 EXON Missense_R385H,Missense_R386H,Missense_R386H exm1501006 19 53645291 [T/C] NM_032584,NM_001172675,NM_001172674 ZNF347,ZNF347,ZNF347 EXON Missense_N264D,Missense_N265D,Missense_N265D exm1501010 19 53645420 [A/C] NM_032584,NM_001172675,NM_001172674 ZNF347,ZNF347,ZNF347 EXON Missense_S221A,Missense_S222A,Missense_S222A exm1949303 19 53645528 [G/C] NM_032584,NM_001172675,NM_001172674 ZNF347,ZNF347,ZNF347 EXON Missense_G185R,Missense_G186R,Missense_G186R exm1501021 19 53645732 [T/C] NM_032584,NM_001172675,NM_001172674 ZNF347,ZNF347,ZNF347 EXON Missense_M117V,Missense_M118V,Missense_M118V exm1949313 19 53652020 [T/C] NM_032584,NM_001172675,NM_001172674 ZNF347,ZNF347,ZNF347 EXON Missense_Q62R,Missense_Q63R,Missense_Q63R exm2275401 19 53667726 [A/G] NM_024733 ZNF665 EXON Nonsense_R673X exm1501040 19 53667729 [A/G] NM_024733 ZNF665 EXON Missense_H672Y exm1501049 19 53667804 [T/C] NM_024733 ZNF665 EXON Missense_V647I exm1501050 19 53667830 [T/C] NM_024733 ZNF665 EXON Missense_R638H exm1501064 19 53668376 [T/G] NM_024733 ZNF665 EXON Missense_K456T exm1501073 19 53668524 [A/G] NM_024733 ZNF665 EXON Missense_C407R exm1501082 19 53668697 [T/C] NM_024733 ZNF665 EXON Missense_N349S exm1501096 19 53669057 [A/G] NM_024733 ZNF665 EXON Missense_T229I exm1501100 19 53669136 [C/G] NM_024733 ZNF665 EXON Missense_E203Q exm1501104 19 53669231 [T/G] NM_024733 ZNF665 EXON Missense_P171H exm1501105 19 53669273 [T/C] NM_024733 ZNF665 EXON Missense_H157R exm1501106 19 53669283 [A/G] NM_024733 ZNF665 EXON Nonsense_Q154X exm1501109 19 53669402 [A/G] NM_024733 ZNF665 EXON Missense_M114T exm1501113 19 53669447 [T/C] NM_024733 ZNF665 EXON Missense_E99G exm1501115 19 53669472 [T/C] NM_024733 ZNF665 EXON Missense_V91I exm1501120 19 53669492 [A/G] NM_024733 ZNF665 EXON Missense_V84A exm1949338 19 53678761 [A/G] NM_024733 ZNF665 EXON Missense_P27S exm1501136 19 53740228 [C/G] NM_182609 ZNF677 EXON Synonymous_T584T exm2253989 19 53740228 [C/G] NM_182609 ZNF677 EXON Synonymous_T584T exm1501137 19 53740238 [A/G] NM_182609 ZNF677 EXON Missense_S581L exm1501138 19 53740253 [A/G] NM_182609 ZNF677 EXON Missense_T576I exm1501157 19 53740781 [T/C] NM_182609 ZNF677 EXON Missense_E400G exm1501168 19 53740939 [A/G] NM_182609 ZNF677 EXON Synonymous_Y347Y exm1501172 19 53741039 [G/C] NM_182609 ZNF677 EXON Missense_T314R exm1501182 19 53741219 [T/C] NM_182609 ZNF677 EXON Missense_G254E exm1501185 19 53741315 [T/C] NM_182609 ZNF677 EXON Missense_N222S exm1501188 19 53741400 [T/G] NM_182609 ZNF677 EXON Missense_S194R exm1501190 19 53741442 [T/C] NM_182609 ZNF677 EXON Missense_G180R exm1501205 19 53741667 [T/C] NM_182609 ZNF677 EXON Missense_K105E exm1501207 19 53741744 [T/C] NM_182609 ZNF677 EXON Missense_H79R exm1501213 19 53741805 [A/G] NM_182609 ZNF677 EXON Missense_S59P exm1501217 19 53747000 [T/C] NM_182609 ZNF677 EXON Missense_D56N exm1501219 19 53747024 [C/G] NM_182609 ZNF677 EXON Missense_D48H exm1501248 19 53761980 [G/C] NM_173856 VN1R2 EXON Missense_G118R exm1501251 19 53762097 [T/G] NM_173856 VN1R2 EXON Missense_D157Y exm1949383 19 53762136 [A/C] NM_173856 VN1R2 EXON Synonymous_R170R exm1501263 19 53762428 [C/G] NM_173856 VN1R2 EXON Missense_S267C exm1501264 19 53762434 [A/G] NM_173856 VN1R2 EXON Missense_H269R exm1501265 19 53762460 [T/C] NM_173856 VN1R2 EXON Missense_L278F exm1501277 19 53762613 [A/G] NM_173856 VN1R2 EXON Missense_A329T exm1501287 19 53762712 [T/A] NM_173856 VN1R2 EXON Missense_I362F exm1501289 19 53762736 [T/C] NM_173856 VN1R2 EXON Missense_R370C exm1501292 19 53762788 [A/G] NM_173856 VN1R2 EXON Missense_R387Q exm1501311 19 53770539 [A/G] NM_173857 VN1R4 EXON Missense_V127A exm1501312 19 53770542 [T/C] NM_173857 VN1R4 EXON Missense_H126R exm2230024 19 53770853 [T/G] NM_173857 VN1R4 EXON Missense_S22R exm1501335 19 53770854 [G/C] NM_173857 VN1R4 EXON Missense_S22T exm1501337 19 53770879 [A/G] NM_173857 VN1R4 EXON Nonsense_Q14X exm2230025 19 53784826 [A/G] exm2230029 19 53787853 [G/C] exm1501354 19 53792954 [A/G] NM_033341 BIRC8 EXON Missense_A225V exm1501355 19 53792955 [T/C] NM_033341 BIRC8 EXON Missense_A225T exm1501356 19 53792957 [T/C] NM_033341 BIRC8 EXON Missense_S224N exm1501359 19 53793042 [A/G] NM_033341 BIRC8 EXON Missense_H196Y exm1501361 19 53793066 [A/G] NM_033341 BIRC8 EXON Missense_L188F exm1501362 19 53793083 [T/C] NM_033341 BIRC8 EXON Missense_R182H exm1501363 19 53793084 [A/G] NM_033341 BIRC8 EXON Missense_R182C exm1501366 19 53793134 [A/G] NM_033341 BIRC8 EXON Missense_L165S exm1501367 19 53793162 [T/C] NM_033341 BIRC8 EXON Missense_A156T exm1501375 19 53793249 [T/C] NM_033341 BIRC8 EXON Missense_D127N exm1501378 19 53793275 [A/G] NM_033341 BIRC8 EXON Missense_A118V exm1501384 19 53793401 [T/C] NM_033341 BIRC8 EXON Missense_E76G exm1501386 19 53793417 [A/C] NM_033341 BIRC8 EXON Nonsense_E71X exm1501388 19 53793456 [G/C] NM_033341 BIRC8 EXON Missense_Q58E exm1501392 19 53793596 [A/G] NM_033341 BIRC8 EXON Missense_F11S exm1501415 19 53854501 [G/C] NM_138374 ZNF845 EXON Missense_N191K exm2268209 19 53884412 [A/G] NR_003699 ZNF525 EXON Silent exm2268238 19 53888813 [A/G] NR_003699 ZNF525 EXON Silent exm1501481 19 53910954 [T/C] NM_001040185 ZNF765 EXON Missense_I49T exm1501484 19 53911041 [A/G] NM_001040185 ZNF765 EXON Missense_E78G exm1501492 19 53911182 [A/G] NM_001040185 ZNF765 EXON Missense_R125Q exm1501508 19 53911553 [C/G] NM_001040185 ZNF765 EXON Missense_G249R exm1501512 19 53911580 [A/G] NM_001040185 ZNF765 EXON Missense_V258I exm1501515 19 53911592 [T/C] NM_001040185 ZNF765 EXON Missense_R262C exm1501517 19 53911616 [T/C] NM_001040185 ZNF765 EXON Missense_P270S exm1501540 19 53912054 [T/C] NM_001040185 ZNF765 EXON Missense_C416R exm1501574 19 53958104 [A/G] NM_001008401 ZNF761 EXON Missense_K115E exm1501575 19 53958126 [T/G] NM_001008401 ZNF761 EXON Missense_I122S exm1501578 19 53958148 [T/G] NM_001008401 ZNF761 EXON Missense_S129R exm1501579 19 53958149 [T/C] NM_001008401 ZNF761 EXON Missense_H130Y exm1501580 19 53958166 [T/A] NM_001008401 ZNF761 EXON Synonymous_P135P exm1501592 19 53958347 [T/C] NM_001008401 ZNF761 EXON Missense_F196L exm1949452 19 53958463 [G/C] NM_001008401 ZNF761 EXON Missense_Q234H exm1501597 19 53958503 [T/G] NM_001008401 ZNF761 EXON Missense_G248C exm1501615 19 53959005 [A/G] NM_001008401 ZNF761 EXON Missense_C415Y exm1501617 19 53959068 [A/T] NM_001008401 ZNF761 EXON Missense_N436I exm1501637 19 53959417 [T/C] NM_001008401 ZNF761 EXON Synonymous_C552C exm1501682 19 53993629 [A/C] NM_001004301 ZNF813 EXON Missense_D48A exm1501688 19 53993719 [A/G] NM_001004301 ZNF813 EXON Missense_E78G exm1501690 19 53993764 [T/A] NM_001004301 ZNF813 EXON Missense_D93V exm1501738 19 53994802 [A/T] NM_001004301 ZNF813 EXON Missense_Y439F exm1501773 19 54074868 [T/C] NM_018555,NM_001079906,NM_001253799,NM_001253798,NM_001253800,NM_001253801,NM_001079907 ZNF331,ZNF331,ZNF331,ZNF331,ZNF331,ZNF331,ZNF331 EXON Missense_T7M,Missense_T7M,Missense_T7M,Missense_T7M,Missense_T7M,Missense_T7M,Missense_T7M exm1501781 19 54080031 [A/G] NM_018555,NM_001079906,NM_001253799,NM_001253798,NM_001253800,NM_001253801,NM_001079907 ZNF331,ZNF331,ZNF331,ZNF331,ZNF331,ZNF331,ZNF331 EXON Missense_D73N,Missense_D73N,Missense_D73N,Missense_D73N,Missense_D73N,Missense_D73N,Missense_D73N exm1501782 19 54080056 [A/G] NM_018555,NM_001079906,NM_001253799,NM_001253798,NM_001253800,NM_001253801,NM_001079907 ZNF331,ZNF331,ZNF331,ZNF331,ZNF331,ZNF331,ZNF331 EXON Missense_R81H,Missense_R81H,Missense_R81H,Missense_R81H,Missense_R81H,Missense_R81H,Missense_R81H exm1501784 19 54080067 [T/C] NM_018555,NM_001079906,NM_001253799,NM_001253798,NM_001253800,NM_001253801,NM_001079907 ZNF331,ZNF331,ZNF331,ZNF331,ZNF331,ZNF331,ZNF331 EXON Missense_C85R,Missense_C85R,Missense_C85R,Missense_C85R,Missense_C85R,Missense_C85R,Missense_C85R exm1501791 19 54080140 [T/A] NM_018555,NM_001079906,NM_001253799,NM_001253798,NM_001253800,NM_001253801,NM_001079907 ZNF331,ZNF331,ZNF331,ZNF331,ZNF331,ZNF331,ZNF331 EXON Missense_K109I,Missense_K109I,Missense_K109I,Missense_K109I,Missense_K109I,Missense_K109I,Missense_K109I exm1501806 19 54080544 [A/G] NM_018555,NM_001079906,NM_001253799,NM_001253798,NM_001253800,NM_001253801,NM_001079907 ZNF331,ZNF331,ZNF331,ZNF331,ZNF331,ZNF331,ZNF331 EXON Missense_E244K,Missense_E244K,Missense_E244K,Missense_E244K,Missense_E244K,Missense_E244K,Missense_E244K exm1501812 19 54080796 [A/G] NM_018555,NM_001079906,NM_001253799,NM_001253798,NM_001253800,NM_001253801,NM_001079907 ZNF331,ZNF331,ZNF331,ZNF331,ZNF331,ZNF331,ZNF331 EXON Missense_E328K,Missense_E328K,Missense_E328K,Missense_E328K,Missense_E328K,Missense_E328K,Missense_E328K exm1501833 19 54135382 [T/C] NM_001012728 DPRX EXON Missense_R8C exm1501844 19 54140001 [A/G] NM_001012728 DPRX EXON Missense_N112S exm1501854 19 54140132 [T/C] NM_001012728 DPRX EXON Nonsense_R156X exm1501857 19 54140168 [T/G] NM_001012728 DPRX EXON Nonsense_E168X exm1949594 19 54297343 [A/G] NM_144687,NM_033297 NLRP12,NLRP12 EXON Missense_A1049V,Missense_A275V exm1502228 19 54299123 [G/C] NM_144687,NM_033297 NLRP12,NLRP12 EXON Missense_R1030G,Missense_R256G exm1502229 19 54299165 [A/G] NM_144687,NM_033297 NLRP12,NLRP12 EXON Nonsense_R1016X,Nonsense_R242X exm1502233 19 54299207 [T/C] NM_144687,NM_033297 NLRP12,NLRP12 EXON Missense_D1002N,Missense_D228N exm1949598 19 54299211 [G/C] NM_144687,NM_033297 NLRP12,NLRP12 EXON Missense_L1000F,Missense_L226F exm1502240 19 54301537 [T/C] NM_144687,NM_033297 NLRP12,NLRP12 EXON Missense_E963K,Silent exm1502247 19 54301593 [T/C] NM_144687,NM_033297 NLRP12,NLRP12 EXON Missense_R944Q,Silent exm1949603 19 54301639 [T/C] NM_144687,NM_033297 NLRP12,NLRP12 EXON Missense_A929T,Silent exm1502252 19 54301663 [G/C] NM_144687,NM_033297 NLRP12,NLRP12 EXON Missense_G921R,Silent exm1502253 19 54301668 [A/C] NM_144687,NM_033297 NLRP12,NLRP12 Silent,Silent exm1502254 19 54304481 [T/C] NM_144687,NM_033297 NLRP12,NLRP12 EXON Missense_R919Q,Missense_R202Q exm1502255 19 54304482 [A/G] NM_144687,NM_033297 NLRP12,NLRP12 EXON Missense_R919W,Missense_R202W exm1502260 19 54304545 [A/C] NM_144687,NM_033297 NLRP12,NLRP12 EXON Missense_D898Y,Missense_D181Y exm1502262 19 54304571 [T/A] NM_144687,NM_033297 NLRP12,NLRP12 EXON Missense_L889Q,Missense_L172Q exm1502269 19 54307212 [C/G] NM_144687,NM_033297 NLRP12,NLRP12 EXON Missense_T860S,Missense_T143S exm1502270 19 54307215 [T/C] NM_144687,NM_033297 NLRP12,NLRP12 EXON Missense_R859Q,Missense_R142Q exm1502286 19 54308639 [T/G] NM_144687,NM_033297 NLRP12,NLRP12 EXON Missense_K770T,Missense_K53T exm1502291 19 54310765 [T/G] NM_144687,NM_033297 NLRP12,NLRP12 EXON Missense_K743Q,Silent exm1502301 19 54310845 [A/G] NM_144687,NM_033297 NLRP12,NLRP12 EXON Missense_I716T,Silent exm1502302 19 54310851 [T/C] NM_144687,NM_033297 NLRP12,NLRP12 EXON Missense_N714S,Silent exm1502310 19 54312866 [T/C] NM_144687 NLRP12 EXON Missense_G683R exm1502316 19 54312931 [T/G] NM_144687 NLRP12 EXON Missense_Q661P exm1502320 19 54313059 [G/C] NM_144687 NLRP12 EXON Nonsense_Y618X exm1502330 19 54313418 [T/C] NM_144687 NLRP12 EXON Missense_I499V exm1502337 19 54313561 [T/C] NM_144687 NLRP12 EXON Missense_R451H exm1502357 19 54313707 [G/C] NM_144687 NLRP12 EXON Missense_F402L exm2275114 19 54313731 [G/C] NM_144687 NLRP12 EXON Missense_N394K exm1502365 19 54313850 [T/C] NM_144687 NLRP12 EXON Missense_E355K exm1502366 19 54313859 [A/G] NM_144687 NLRP12 EXON Missense_R352C exm1502369 19 54313891 [A/G] NM_144687 NLRP12 EXON Missense_T341I exm1502370 19 54313927 [T/C] NM_144687 NLRP12 EXON Missense_R329Q exm1502375 19 54313957 [C/G] NM_144687 NLRP12 EXON Missense_P319R exm1502376 19 54313961 [G/C] NM_144687 NLRP12 EXON Missense_R318G exm1502377 19 54314003 [A/G] NM_144687 NLRP12 EXON Missense_H304Y exm1502381 19 54314056 [A/G] NM_144687 NLRP12 EXON Missense_P286L exm1502382 19 54314063 [A/G] NM_144687 NLRP12 EXON Nonsense_R284X exm1502386 19 54314097 [T/C] NM_144687 NLRP12 EXON Nonsense_W272X exm1502390 19 54314134 [A/G] NM_144687 NLRP12 EXON Missense_T260M exm1502400 19 54314296 [T/C] NM_144687 NLRP12 EXON Missense_R206H exm1502403 19 54314354 [T/C] NM_144687 NLRP12 EXON Missense_V187M exm1502407 19 54314377 [A/G] NM_144687 NLRP12 EXON Missense_T179I exm1502412 19 54314477 [A/G] NM_144687 NLRP12 EXON Missense_R146C exm1502415 19 54314489 [T/C] NM_144687 NLRP12 EXON Missense_D142N exm1502416 19 54314501 [A/G] NM_144687 NLRP12 EXON Missense_R138W exm1502423 19 54318224 [A/G] NM_144687 NLRP12 EXON Missense_P103L exm1502424 19 54318234 [A/G] NM_144687 NLRP12 EXON Missense_P100S exm1502425 19 54318241 [A/G] NM_144687 NLRP12 EXON Synonymous_D97D exm1502437 19 54327313 [A/C] NM_144687 NLRP12 EXON Missense_G39V exm1502505 19 54387497 [T/C] NM_002739 PRKCG EXON Synonymous_D95D exm1502519 19 54395039 [T/C] NM_002739 PRKCG EXON Missense_T214M exm1502558 19 54407971 [A/G] NM_002739 PRKCG EXON Missense_R580Q exm1502559 19 54407979 [A/G] NM_002739 PRKCG EXON Missense_V583M exm1502564 19 54409677 [A/G] NM_002739 PRKCG EXON Missense_R624Q exm1502569 19 54410114 [A/G] NM_002739 PRKCG EXON Missense_S687G exm2260884 19 54414637 [T/C] exm1502576 19 54416230 [A/G] NM_031896 CACNG7 EXON Missense_E49K exm1502653 19 54501540 [T/C] NM_145815,NM_031897,NM_145814 CACNG6,CACNG6,CACNG6 EXON Missense_R127C,Silent,Missense_R127C exm1502657 19 54502954 [A/G] NM_145815,NM_031897,NM_145814 CACNG6,CACNG6,CACNG6 EXON Silent,Silent,Missense_C158Y exm1502670 19 54515399 [A/C] NM_145815,NM_031897,NM_145814 CACNG6,CACNG6,CACNG6 EXON Missense_P201T,Missense_P176T,Missense_P247T exm1502683 19 54544231 [G/C] NM_198481 VSTM1 EXON Missense_A232G exm1502690 19 54545034 [A/G] NM_198481 VSTM1 EXON Missense_S197L exm1502693 19 54545059 [A/G] NM_198481 VSTM1 EXON Missense_S189P exm1502694 19 54545068 [T/C] NM_198481 VSTM1 EXON Missense_A186T exm1502706 19 54545531 [T/C] NM_198481 VSTM1 EXON Missense_S163G exm1502713 19 54561561 [T/C] NM_198481 VSTM1 EXON Synonymous_T118T exm1502724 19 54561722 [A/C] NM_198481 VSTM1 EXON Missense_D65Y exm2272863 19 54573300 [T/C] NM_001135686 TARM1 EXON Missense_R258Q exm1502735 19 54573301 [A/G] NM_001135686 TARM1 EXON Missense_R258W exm2253999 19 54577419 [A/G] NM_001135686 TARM1 EXON Synonymous_T137T exm1502751 19 54578105 [T/C] NM_001135686 TARM1 EXON Missense_R111H exm1502754 19 54578196 [T/C] NM_001135686 TARM1 EXON Missense_E81K exm1502758 19 54578328 [A/G] NM_001135686 TARM1 EXON Missense_S37P exm1502770 19 54598604 [T/G] NM_133169,NM_206818,NM_130771,NM_133168 OSCAR,OSCAR,OSCAR,OSCAR EXON Missense_Y225S,Silent,Missense_Y229S,Missense_Y214S exm1502780 19 54599119 [A/G] NM_133169,NM_206818,NM_130771,NM_133168 OSCAR,OSCAR,OSCAR,OSCAR EXON Silent,Missense_R229W,Silent,Silent exm1502798 19 54600347 [T/C] NM_133169,NM_206818,NM_130771,NM_133168 OSCAR,OSCAR,OSCAR,OSCAR EXON Missense_A59T,Missense_A63T,Missense_A63T,Missense_A48T exm1502800 19 54600361 [T/C] NM_133169,NM_206818,NM_130771,NM_133168 OSCAR,OSCAR,OSCAR,OSCAR EXON Missense_R54Q,Missense_R58Q,Missense_R58Q,Missense_R43Q exm1502801 19 54600362 [A/G] NM_133169,NM_206818,NM_130771,NM_133168 OSCAR,OSCAR,OSCAR,OSCAR EXON Missense_R54W,Missense_R58W,Missense_R58W,Missense_R43W exm2272802 19 54603419 [T/C] NM_133169,NM_206818,NM_130771,NM_133168 OSCAR,OSCAR,OSCAR,OSCAR Silent,Silent,Silent,Silent exm1502818 19 54606446 [C/G] NM_004542 NDUFA3 EXON Missense_A12G exm1502823 19 54609265 [T/C] NM_004542 NDUFA3 EXON Missense_P37L exm1502841 19 54610451 [A/G] NM_013342 TFPT EXON Missense_F223S exm1502842 19 54610461 [A/C] NM_013342 TFPT EXON Missense_D220Y exm1502849 19 54611377 [A/G] NM_013342 TFPT EXON Missense_R200C exm1502850 19 54611385 [T/C] NM_013342 TFPT EXON Missense_R197Q exm1502867 19 54611633 [T/C] NM_013342 TFPT EXON Synonymous_E141E exm1502881 19 54613441 [C/G] NM_013342 TFPT EXON Missense_E116Q exm1502887 19 54617836 [A/G] NM_013342 TFPT EXON Missense_R90W exm1502907 19 54621969 [A/T] NM_015629 PRPF31 EXON Missense_M65K exm2254000 19 54627164 [A/G] NM_015629 PRPF31 EXON Synonymous_E188E exm1502934 19 54627232 [A/G] NM_015629 PRPF31 EXON Missense_R211Q exm1502984 19 54646666 [A/G] NM_014516 CNOT3 EXON Silent exm1503008 19 54647986 [T/C] NM_014516 CNOT3 EXON Missense_T134M exm1949893 19 54649769 [A/C] NM_014516 CNOT3 EXON Missense_N276T exm1503037 19 54651898 [A/G] NM_014516 CNOT3 EXON Missense_G304S exm1503040 19 54651928 [T/C] NM_014516 CNOT3 EXON Missense_P314S exm1503049 19 54652124 [G/C] NM_014516 CNOT3 EXON Missense_A379G exm1503053 19 54652192 [A/G] NM_014516 CNOT3 EXON Missense_G402S exm1503058 19 54652265 [T/C] NM_014516 CNOT3 EXON Missense_A426V exm1503066 19 54653359 [T/G] NM_014516 CNOT3 EXON Missense_S491A exm1949909 19 54655963 [A/G] NM_014516 CNOT3 EXON Missense_A536T exm1503106 19 54659488 [A/G] NM_024316 LENG1 EXON Missense_R256C exm1503107 19 54659529 [T/C] NM_024316 LENG1 EXON Missense_R242Q exm1503114 19 54659584 [A/G] NM_024316 LENG1 EXON Missense_R224W exm1503117 19 54659616 [T/C] NM_024316 LENG1 EXON Missense_R213Q exm1503119 19 54659635 [T/C] NM_024316 LENG1 EXON Missense_E207K exm1503120 19 54659640 [T/C] NM_024316 LENG1 EXON Missense_R205Q exm1503124 19 54659664 [T/C] NM_024316 LENG1 EXON Missense_D197G exm1503129 19 54660548 [T/A] NM_024316 LENG1 EXON Missense_S176R exm1503136 19 54660649 [T/C] NM_024316 LENG1 EXON Missense_G143S exm1503142 19 54662043 [T/C] NM_024316 LENG1 EXON Missense_E97K exm1503143 19 54662047 [C/G] NM_024316 LENG1 EXON Missense_E95D exm1503147 19 54662139 [A/C] NM_024316 LENG1 EXON Missense_A65S exm1503148 19 54663302 [T/C] NM_024316 LENG1 EXON Synonymous_E44E exm1503162 19 54664209 [G/C] NM_001145303,NM_144686 TMC4,TMC4 EXON Missense_Q689E,Missense_Q683E exm1503195 19 54666464 [T/G] NM_001145303,NM_144686 TMC4,TMC4 EXON Missense_L488M,Missense_L482M exm1503204 19 54667472 [T/C] NM_001145303,NM_144686 TMC4,TMC4 EXON Missense_V427I,Missense_V421I exm1503211 19 54668181 [A/G] NM_001145303,NM_144686 TMC4,TMC4 EXON Missense_T373I,Missense_T367I exm1503216 19 54668275 [T/C] NM_001145303,NM_144686 TMC4,TMC4 EXON Missense_A342T,Missense_A336T exm1503231 19 54672316 [A/G] NM_001145303,NM_144686 TMC4,TMC4 EXON Missense_M184T,Missense_M178T exm1949987 19 54672379 [T/C] NM_001145303,NM_144686 TMC4,TMC4 EXON Missense_Y163C,Missense_Y157C exm1503254 19 54675729 [T/C] NM_001145303,NM_144686 TMC4,TMC4 EXON Missense_K74R,Missense_K68R exm1503257 19 54675801 [T/C] NM_001145303,NM_144686 TMC4,TMC4 EXON Missense_R50Q,Missense_R44Q exm1503267 19 54676763 [T/C] NM_001145303,NM_144686 TMC4,TMC4 EXON Missense_G17E,Missense_G17E exm2254001 19 54682514 [A/G] NM_001146056,NM_024298,NM_001146083,NM_001146082 MBOAT7,MBOAT7,MBOAT7,MBOAT7 EXON Synonymous_Y260Y,Synonymous_Y333Y,Synonymous_Y260Y,Synonymous_Y333Y exm1503315 19 54682583 [A/G] NM_001146056,NM_024298,NM_001146083,NM_001146082 MBOAT7,MBOAT7,MBOAT7,MBOAT7 EXON Synonymous_C237C,Synonymous_C310C,Synonymous_C237C,Synonymous_C310C exm2254002 19 54682583 [A/G] NM_001146056,NM_024298,NM_001146083,NM_001146082 MBOAT7,MBOAT7,MBOAT7,MBOAT7 EXON Synonymous_C237C,Synonymous_C310C,Synonymous_C237C,Synonymous_C310C exm1503328 19 54684691 [C/G] NM_001146056,NM_024298,NM_001146083,NM_001146082 MBOAT7,MBOAT7,MBOAT7,MBOAT7 EXON Missense_R145P,Missense_R218P,Missense_R145P,Missense_R218P exm1503333 19 54684811 [T/C] NM_001146056,NM_024298,NM_001146083,NM_001146082 MBOAT7,MBOAT7,MBOAT7,MBOAT7 EXON Missense_E105G,Missense_E178G,Missense_E105G,Missense_E178G exm1950030 19 54695642 [A/G] NM_024075,NM_001077446 TSEN34,TSEN34 EXON Missense_R105Q,Missense_R105Q exm1503373 19 54695662 [G/C] NM_024075,NM_001077446 TSEN34,TSEN34 EXON Missense_L112V,Missense_L112V exm1503377 19 54695720 [T/C] NM_024075,NM_001077446 TSEN34,TSEN34 EXON Missense_S131L,Missense_S131L exm1503378 19 54695722 [A/G] NM_024075,NM_001077446 TSEN34,TSEN34 EXON Missense_G132R,Missense_G132R exm1503380 19 54695752 [A/G] NM_024075,NM_001077446 TSEN34,TSEN34 EXON Missense_S142G,Missense_S142G exm2275115 19 54695789 [A/C] NM_024075,NM_001077446 TSEN34,TSEN34 EXON Missense_Q154P,Missense_Q154P exm1503384 19 54696021 [A/C] NM_024075,NM_001077446 TSEN34,TSEN34 EXON Missense_S181Y,Missense_S181Y exm1503446 19 54721007 [T/G] NM_001081450,NM_006864 LILRB3,LILRB3 EXON Missense_E618D,Missense_E617D exm1503448 19 54721009 [C/G] NM_001081450,NM_006864 LILRB3,LILRB3 EXON Missense_E618Q,Missense_E617Q exm1503486 19 54722230 [T/C] NM_001081450,NM_006864 LILRB3,LILRB3 EXON Synonymous_Q531Q,Synonymous_Q531Q exm1503496 19 54722668 [A/G] NM_001081450,NM_006864 LILRB3,LILRB3 EXON Missense_A489V,Missense_A489V exm1503499 19 54722700 [A/T] NM_001081450,NM_006864 LILRB3,LILRB3 EXON Missense_R478S,Missense_R478S exm1503627 19 54742861 [T/G] NM_024318 LILRA6 EXON Missense_Q472K exm1503634 19 54742927 [A/G] NM_024318 LILRA6 EXON Missense_R450C exm1503637 19 54742965 [A/G] NM_024318 LILRA6 EXON Missense_A437V exm1503774 19 54754667 [T/G] NM_001081442,NM_001081443,NM_006840 LILRB5,LILRB5,LILRB5 EXON Missense_P587T,Missense_P487T,Missense_P586T exm1503808 19 54755937 [T/C] NM_001081442,NM_001081443,NM_006840 LILRB5,LILRB5,LILRB5 EXON Missense_G537R,Missense_G437R,Missense_G536R exm1503812 19 54755955 [C/G] NM_001081442,NM_001081443,NM_006840 LILRB5,LILRB5,LILRB5 EXON Missense_D531H,Missense_D431H,Missense_D530H exm1503832 19 54756246 [A/G] NM_001081442,NM_001081443,NM_006840 LILRB5,LILRB5,LILRB5 EXON Missense_I520T,Missense_I420T,Missense_I519T exm1503842 19 54756401 [A/G] NM_001081442,NM_001081443,NM_006840 LILRB5,LILRB5,LILRB5 EXON Missense_R496C,Missense_R396C,Missense_R495C exm1503846 19 54756735 [T/C] NM_001081442,NM_001081443,NM_006840 LILRB5,LILRB5,LILRB5 EXON Synonymous_S491S,Synonymous_S391S,Synonymous_S490S exm1503849 19 54756767 [A/G] NM_001081442,NM_001081443,NM_006840 LILRB5,LILRB5,LILRB5 EXON Nonsense_R481X,Nonsense_R381X,Nonsense_R480X exm1503876 19 54758762 [A/G] NM_001081442,NM_001081443,NM_006840 LILRB5,LILRB5,LILRB5 EXON Missense_P364L,Missense_P264L,Missense_P364L exm1503879 19 54758810 [T/C] NM_001081442,NM_001081443,NM_006840 LILRB5,LILRB5,LILRB5 EXON Missense_H348R,Missense_H248R,Missense_H348R exm1503909 19 54759306 [G/C] NM_001081442,NM_001081443,NM_006840 LILRB5,LILRB5,LILRB5 EXON Missense_Q265H,Missense_Q165H,Missense_Q265H exm1503914 19 54759349 [T/C] NM_001081442,NM_001081443,NM_006840 LILRB5,LILRB5,LILRB5 EXON Missense_D251G,Missense_D151G,Missense_D251G exm1503916 19 54759361 [T/C] NM_001081442,NM_001081443,NM_006840 LILRB5,LILRB5,LILRB5 EXON Missense_D247G,Missense_D147G,Missense_D247G exm1503921 19 54759395 [A/G] NM_001081442,NM_001081443,NM_006840 LILRB5,LILRB5,LILRB5 EXON Missense_R236C,Missense_R136C,Missense_R236C exm1503928 19 54759931 [A/C] NM_001081442,NM_001081443,NM_006840 LILRB5,LILRB5,LILRB5 EXON Missense_S210R,Silent,Missense_S210R exm2254004 19 54760105 [T/C] NM_001081442,NM_001081443,NM_006840 LILRB5,LILRB5,LILRB5 EXON Synonymous_T152T,Silent,Synonymous_T152T exm2254005 19 54760189 [A/G] NM_001081442,NM_001081443,NM_006840 LILRB5,LILRB5,LILRB5 EXON Synonymous_P124P,Silent,Synonymous_P124P exm1503946 19 54760376 [A/C] NM_001081442,NM_001081443,NM_006840 LILRB5,LILRB5,LILRB5 EXON Missense_D111Y,Missense_D111Y,Missense_D111Y exm1503947 19 54760381 [A/G] NM_001081442,NM_001081443,NM_006840 LILRB5,LILRB5,LILRB5 EXON Missense_P109L,Missense_P109L,Missense_P109L exm1950178 19 54760453 [A/G] NM_001081442,NM_001081443,NM_006840 LILRB5,LILRB5,LILRB5 EXON Missense_I85T,Missense_I85T,Missense_I85T exm1503960 19 54761023 [C/G] NM_001081442,NM_001081443,NM_006840 LILRB5,LILRB5,LILRB5 EXON Missense_G12R,Missense_G12R,Missense_G12R exm1503972 19 54778554 [T/G] NM_005874,NM_001080978 LILRB2,LILRB2 EXON Missense_T594P,Missense_T593P exm1504011 19 54780662 [T/C] NM_005874,NM_001080978 LILRB2,LILRB2 EXON Synonymous_S494S,Synonymous_S493S exm1504047 19 54781773 [A/G] NM_005874,NM_001080978 LILRB2,LILRB2 EXON Missense_P427S,Missense_P427S exm1504072 19 54782290 [A/G] NM_005874,NM_001080978 LILRB2,LILRB2 EXON Missense_A361V,Missense_A361V exm1504118 19 54783232 [A/G] NM_005874,NM_001080978 LILRB2,LILRB2 EXON Missense_S209L,Missense_S209L exm1504123 19 54783272 [A/T] NM_005874,NM_001080978 LILRB2,LILRB2 EXON Missense_C196S,Missense_C196S exm1504138 19 54783457 [A/C] NM_005874,NM_001080978 LILRB2,LILRB2 EXON Missense_V134G,Missense_V134G exm1504145 19 54783693 [T/C] NM_005874,NM_001080978 LILRB2,LILRB2 EXON Missense_R103H,Missense_R103H exm1504146 19 54783702 [T/C] NM_005874,NM_001080978 LILRB2,LILRB2 EXON Missense_Y100C,Missense_Y100C exm1504158 19 54783825 [T/C] NM_005874,NM_001080978 LILRB2,LILRB2 EXON Missense_R59H,Missense_R59H exm-rs386000 19 54792761 [G/C] exm1504265 19 54803022 [T/C] NM_001172654,NM_006865 LILRA3,LILRA3 EXON Silent,Missense_V219I exm1504279 19 54803141 [T/C] NM_001172654,NM_006865 LILRA3,LILRA3 EXON Silent,Missense_R179Q exm1504281 19 54803209 [T/C] NM_001172654,NM_006865 LILRA3,LILRA3 EXON Synonymous_L156L,Synonymous_L156L exm1504288 19 54803262 [T/C] NM_001172654,NM_006865 LILRA3,LILRA3 EXON Missense_G139R,Missense_G139R exm1504299 19 54803664 [A/C] NM_001172654,NM_006865 LILRA3,LILRA3 EXON Nonsense_E54X,Nonsense_E54X exm2263787 19 54804167 [A/G] NM_001172654,NM_006865 LILRA3,LILRA3 EXON Missense_P3S,Missense_P3S exm1504336 19 54818721 [A/G] NM_181985,NM_021250 LILRA5,LILRA5 EXON Missense_P281S,Missense_P293S exm1504342 19 54818795 [T/C] NM_181985,NM_021250 LILRA5,LILRA5 EXON Missense_R256H,Missense_R268H exm1504343 19 54818796 [A/G] NM_181985,NM_021250 LILRA5,LILRA5 EXON Missense_R256C,Missense_R268C exm1504376 19 54823326 [T/C] NM_181985,NM_021250,NM_181879,NM_181986 LILRA5,LILRA5,LILRA5,LILRA5 EXON Missense_A61T,Missense_A73T,Missense_A73T,Missense_A61T exm1950317 19 54844907 [T/C] NM_012276 LILRA4 EXON Missense_Q479R exm1504410 19 54844915 [A/C] NM_012276 LILRA4 EXON Missense_R476S exm1504412 19 54844925 [T/C] NM_012276 LILRA4 EXON Missense_S473N exm1504414 19 54844929 [T/C] NM_012276 LILRA4 EXON Missense_R472G exm1504424 19 54845031 [C/G] NM_012276 LILRA4 EXON Missense_H438D exm1504451 19 54848253 [T/C] NM_012276 LILRA4 EXON Missense_G372R exm1504452 19 54848270 [T/C] NM_012276 LILRA4 EXON Missense_R366H exm1504488 19 54848826 [T/C] NM_012276 LILRA4 EXON Missense_R266H exm1950336 19 54848952 [A/G] NM_012276 LILRA4 EXON Missense_P224L exm1950340 19 54849251 [T/G] NM_012276 LILRA4 EXON Missense_Y204S exm1504518 19 54849753 [T/C] NM_012276 LILRA4 EXON Nonsense_W90X exm1504528 19 54849942 [A/G] NM_012276 LILRA4 EXON Missense_P27L exm1504541 19 54850348 [T/G] NM_012276 LILRA4 EXON Missense_T6K exm1504546 19 54850421 [A/G] NM_012276 LILRA4 EXON Silent exm1504577 19 54866948 [A/G] NM_021706,NM_002287 LAIR1,LAIR1 EXON Missense_R248W,Missense_R265W exm1504581 19 54866992 [A/G] NM_021706,NM_002287 LAIR1,LAIR1 EXON Missense_T233M,Missense_T250M exm1504588 19 54867860 [T/C] NM_021706,NM_002287 LAIR1,LAIR1 EXON Missense_D198N,Missense_D215N exm1504596 19 54868098 [A/G] NM_021706,NM_002287 LAIR1,LAIR1 Silent,Silent exm1504597 19 54868121 [T/G] NM_021706,NM_002287 LAIR1,LAIR1 EXON Missense_R171S,Missense_R188S exm1504606 19 54868572 [A/G] NM_021706,NM_002287 LAIR1,LAIR1 EXON Missense_P123L,Missense_P140L exm1504621 19 54872611 [T/A] NM_021706,NM_002287 LAIR1,LAIR1 EXON Missense_S92R,Missense_S92R exm1504626 19 54872698 [C/G] NM_021706,NM_002287 LAIR1,LAIR1 EXON Missense_E63D,Missense_E63D exm1504634 19 54872775 [T/C] NM_021706,NM_002287 LAIR1,LAIR1 EXON Missense_V38M,Missense_V38M exm1504638 19 54872798 [T/G] NM_021706,NM_002287 LAIR1,LAIR1 EXON Missense_S30Y,Missense_S30Y exm1504641 19 54872815 [T/G] NM_021706,NM_002287 LAIR1,LAIR1 EXON Missense_E24D,Missense_E24D exm1504652 19 54876377 [A/C] NM_021706,NM_002287 LAIR1,LAIR1 Silent,Silent exm1504656 19 54876404 [A/G] NM_021706,NM_002287 LAIR1,LAIR1 EXON Missense_P3L,Missense_P3L exm1504674 19 54930392 [T/C] NM_020659,NM_001201461,NM_001005367 TTYH1,TTYH1,TTYH1 EXON Missense_R73W,Missense_R73W,Missense_R73W exm1504678 19 54930431 [A/G] NM_020659,NM_001201461,NM_001005367 TTYH1,TTYH1,TTYH1 EXON Missense_G86R,Missense_G86R,Missense_G86R exm1504682 19 54930443 [A/G] NM_020659,NM_001201461,NM_001005367 TTYH1,TTYH1,TTYH1 EXON Missense_V90I,Missense_V90I,Missense_V90I exm2254013 19 54930472 [T/C] NM_020659,NM_001201461,NM_001005367 TTYH1,TTYH1,TTYH1 EXON Synonymous_L99L,Synonymous_L99L,Synonymous_L99L exm2254014 19 54932502 [A/G] NM_020659,NM_001201461,NM_001005367 TTYH1,TTYH1,TTYH1 EXON Synonymous_V119V,Synonymous_V119V,Synonymous_V119V exm1504688 19 54932536 [A/C] NM_020659,NM_001201461,NM_001005367 TTYH1,TTYH1,TTYH1 EXON Missense_H131N,Missense_H131N,Missense_H131N exm1504689 19 54932552 [T/C] NM_020659,NM_001201461,NM_001005367 TTYH1,TTYH1,TTYH1 EXON Missense_I136T,Missense_I136T,Missense_I136T exm1504698 19 54937850 [A/G] NM_020659,NM_001201461,NM_001005367 TTYH1,TTYH1,TTYH1 EXON Synonymous_R213R,Synonymous_R213R,Synonymous_R213R exm1950402 19 54937944 [A/G] NM_020659,NM_001201461,NM_001005367 TTYH1,TTYH1,TTYH1 EXON Missense_V245M,Missense_V245M,Missense_V245M exm1504705 19 54941738 [A/C] NM_020659,NM_001201461,NM_001005367 TTYH1,TTYH1,TTYH1 EXON Missense_S298R,Missense_S298R,Missense_S298R exm1504706 19 54941991 [A/C] NM_020659,NM_001201461,NM_001005367 TTYH1,TTYH1,TTYH1 EXON Synonymous_R314R,Synonymous_R314R,Synonymous_R314R exm1504707 19 54942015 [C/G] NM_020659,NM_001201461,NM_001005367 TTYH1,TTYH1,TTYH1 EXON Missense_L322V,Missense_L322V,Missense_L322V exm1504715 19 54946735 [T/C] NM_020659,NM_001201461,NM_001005367 TTYH1,TTYH1,TTYH1 EXON Missense_A380V,Missense_A380V,Missense_A380V exm1504716 19 54946741 [A/G] NM_020659,NM_001201461,NM_001005367 TTYH1,TTYH1,TTYH1 EXON Missense_R382Q,Missense_R382Q,Missense_R382Q exm1504728 19 54947039 [A/C] NM_020659,NM_001201461,NM_001005367 TTYH1,TTYH1,TTYH1 EXON Missense_P434T,Missense_P434T,Silent exm1504732 19 54947321 [T/C] NM_020659,NM_001201461,NM_001005367 TTYH1,TTYH1,TTYH1 EXON Silent,Silent,Missense_P440L exm1504734 19 54947332 [G/C] NM_020659,NM_001201461,NM_001005367 TTYH1,TTYH1,TTYH1 EXON Silent,Silent,Missense_E444Q exm1504738 19 54947529 [T/C] NM_020659,NM_001201461,NM_001005367 TTYH1,TTYH1,TTYH1 EXON Silent,Silent,Missense_R456W exm1504743 19 54962467 [A/G] NM_052925 LENG8 EXON Silent exm1504757 19 54963403 [T/C] NM_052925 LENG8 EXON Missense_S58P exm1504782 19 54965860 [A/G] NM_052925 LENG8 EXON Synonymous_K226K exm1504787 19 54966148 [A/G] NM_052925 LENG8 EXON Missense_G233D exm1504789 19 54966175 [A/C] NM_052925 LENG8 EXON Missense_P242H exm1504795 19 54966243 [T/C] NM_052925 LENG8 EXON Missense_P265S exm1504796 19 54966249 [A/C] NM_052925 LENG8 EXON Missense_P267T exm1504800 19 54966557 [G/C] NM_052925 LENG8 EXON Missense_R279P exm1504823 19 54967378 [T/C] NM_052925 LENG8 EXON Missense_R420C exm1504827 19 54967408 [T/C] NM_052925 LENG8 EXON Missense_R430C exm1504834 19 54967613 [T/C] NM_052925 LENG8 EXON Missense_R472W exm1504842 19 54967904 [A/G] NM_052925 LENG8 EXON Missense_R512Q exm1950468 19 54967996 [T/C] NM_052925 LENG8 EXON Missense_P543S exm1504846 19 54968038 [A/G] NM_052925 LENG8 EXON Missense_I557V exm2254015 19 54968079 [A/G] NM_052925 LENG8 EXON Synonymous_P570P exm1504856 19 54968971 [A/C] NM_052925 LENG8 EXON Missense_K593Q exm1504879 19 54969675 [G/C] NM_052925 LENG8 EXON Missense_V739L exm1504905 19 54973280 [G/C] NM_198988 LENG9 EXON Missense_R499P exm1504911 19 54973332 [T/G] NM_198988 LENG9 EXON Missense_L482M exm1504916 19 54973451 [T/C] NM_198988 LENG9 EXON Missense_G442E exm1504920 19 54973482 [T/C] NM_198988 LENG9 EXON Missense_A432T exm1504929 19 54973602 [T/G] NM_198988 LENG9 EXON Missense_L392I exm1504935 19 54973638 [T/C] NM_198988 LENG9 EXON Missense_I380V exm1504936 19 54973653 [T/C] NM_198988 LENG9 EXON Missense_E375K exm2230096 19 54973821 [A/G] NM_198988 LENG9 EXON Missense_R319C exm1504951 19 54973905 [T/C] NM_198988 LENG9 EXON Missense_E291K exm2230097 19 54973983 [T/C] NM_198988 LENG9 EXON Missense_K265E exm1504957 19 54973991 [T/G] NM_198988 LENG9 EXON Missense_E262A exm1950505 19 54974055 [C/G] NM_198988 LENG9 EXON Missense_L241V exm1504963 19 54974084 [T/C] NM_198988 LENG9 EXON Missense_G231E exm1504972 19 54974318 [T/C] NM_198988 LENG9 EXON Missense_H153R exm1504974 19 54974351 [A/C] NM_198988 LENG9 EXON Missense_V142G exm1504981 19 54974460 [A/C] NM_198988 LENG9 EXON Missense_D106Y exm1505048 19 55019157 [T/C] NM_021270,NM_002288 LAIR2,LAIR2 EXON Missense_P41L,Missense_P41L exm1505055 19 55019261 [T/C] NM_021270,NM_002288 LAIR2,LAIR2 EXON Nonsense_R76X,Nonsense_R76X exm1505057 19 55019324 [A/G] NM_021270,NM_002288 LAIR2,LAIR2 EXON Missense_G97R,Missense_G97R exm1505059 19 55019371 [G/C] NM_021270,NM_002288 LAIR2,LAIR2 EXON Missense_H112Q,Missense_H112Q exm1505060 19 55019379 [A/T] NM_021270,NM_002288 LAIR2,LAIR2 EXON Missense_F115Y,Missense_F115Y exm1505192 19 55085885 [A/G] NM_006866,NM_001130917 LILRA2,LILRA2 EXON Missense_E63G,Missense_E63G exm1505196 19 55085962 [T/C] NM_006866,NM_001130917 LILRA2,LILRA2 EXON Missense_W89R,Missense_W89R exm1505205 19 55086043 [A/G] NM_006866,NM_001130917 LILRA2,LILRA2 EXON Missense_V116M,Missense_V116M exm1505215 19 55086296 [A/G] NM_006866,NM_001130917 LILRA2,LILRA2 EXON Missense_G151S,Missense_G151S exm1505276 19 55087313 [T/G] NM_006866,NM_001130917 LILRA2,LILRA2 EXON Missense_V331G,Missense_V331G exm1505289 19 55087468 [A/G] NM_006866,NM_001130917 LILRA2,LILRA2 EXON Missense_G383S,Missense_G383S exm1505304 19 55098667 [A/G] NM_006866,NM_001130917 LILRA2,LILRA2 Silent,Silent exm1950602 19 55098695 [A/G] NM_006866,NM_001130917 LILRA2,LILRA2 EXON Missense_Y428C,Missense_Y445C exm1505308 19 55098715 [T/C] NM_006866,NM_001130917 LILRA2,LILRA2 EXON Missense_R435C,Missense_R452C exm1505315 19 55098775 [T/C] NM_006866,NM_001130917 LILRA2,LILRA2 EXON Missense_H455Y,Missense_H472Y exm1505353 19 55106266 [G/C] NM_006863 LILRA1 EXON Missense_W69C exm1505366 19 55106352 [A/G] NM_006863 LILRA1 EXON Missense_C98Y exm1505373 19 55106379 [A/G] NM_006863 LILRA1 EXON Nonsense_W107X exm1505374 19 55106395 [C/G] NM_006863 LILRA1 EXON Missense_D112E exm1505387 19 55106663 [A/G] NM_006863 LILRA1 EXON Missense_S153G exm1505393 19 55106741 [T/C] NM_006863 LILRA1 EXON Missense_R179W exm1505440 19 55107663 [G/C] NM_006863 LILRA1 EXON Missense_R323P exm1505445 19 55107704 [A/G] NM_006863 LILRA1 EXON Missense_A337T exm1505454 19 55107797 [T/C] NM_006863 LILRA1 EXON Missense_R368C exm1505455 19 55107798 [A/G] NM_006863 LILRA1 EXON Missense_R368H exm1505461 19 55107870 [T/C] NM_006863 LILRA1 EXON Missense_S392L exm1505501 19 55142951 [A/G] NM_006669,NM_001081639,NM_001081638,NM_001081637 LILRB1,LILRB1,LILRB1,LILRB1 EXON Missense_G24E,Missense_G24E,Missense_G24E,Missense_G24E exm1505514 19 55143083 [T/C] NM_006669,NM_001081639,NM_001081638,NM_001081637 LILRB1,LILRB1,LILRB1,LILRB1 EXON Missense_L68P,Missense_L68P,Missense_L68P,Missense_L68P exm1505522 19 55143163 [T/C] NM_006669,NM_001081639,NM_001081638,NM_001081637 LILRB1,LILRB1,LILRB1,LILRB1 EXON Missense_R95W,Missense_R95W,Missense_R95W,Missense_R95W exm1505530 19 55143187 [G/C] NM_006669,NM_001081639,NM_001081638,NM_001081637 LILRB1,LILRB1,LILRB1,LILRB1 EXON Missense_D103H,Missense_D103H,Missense_D103H,Missense_D103H exm1505531 19 55143199 [T/C] NM_006669,NM_001081639,NM_001081638,NM_001081637 LILRB1,LILRB1,LILRB1,LILRB1 EXON Missense_R107C,Missense_R107C,Missense_R107C,Missense_R107C exm1505534 19 55143208 [A/C] NM_006669,NM_001081639,NM_001081638,NM_001081637 LILRB1,LILRB1,LILRB1,LILRB1 EXON Missense_S110R,Missense_S110R,Missense_S110R,Missense_S110R exm1505535 19 55143209 [C/G] NM_006669,NM_001081639,NM_001081638,NM_001081637 LILRB1,LILRB1,LILRB1,LILRB1 EXON Missense_S110T,Missense_S110T,Missense_S110T,Missense_S110T exm1505544 19 55143452 [T/C] NM_006669,NM_001081639,NM_001081638,NM_001081637 LILRB1,LILRB1,LILRB1,LILRB1 EXON Missense_I142T,Missense_I142T,Missense_I142T,Missense_I142T exm2254018 19 55143988 [A/G] NM_006669,NM_001081639,NM_001081638,NM_001081637 LILRB1,LILRB1,LILRB1,LILRB1 EXON Synonymous_Q245Q,Synonymous_Q245Q,Synonymous_Q245Q,Synonymous_Q245Q exm1505571 19 55144064 [A/G] NM_006669,NM_001081639,NM_001081638,NM_001081637 LILRB1,LILRB1,LILRB1,LILRB1 EXON Missense_A271T,Missense_A271T,Missense_A271T,Missense_A271T exm1505574 19 55144070 [T/C] NM_006669,NM_001081639,NM_001081638,NM_001081637 LILRB1,LILRB1,LILRB1,LILRB1 EXON Missense_P273S,Missense_P273S,Missense_P273S,Missense_P273S exm2254019 19 55144495 [A/G] NM_006669,NM_001081639,NM_001081638,NM_001081637 LILRB1,LILRB1,LILRB1,LILRB1 EXON Synonymous_S329S,Synonymous_S329S,Synonymous_S329S,Synonymous_S329S exm1505598 19 55144501 [T/G] NM_006669,NM_001081639,NM_001081638,NM_001081637 LILRB1,LILRB1,LILRB1,LILRB1 EXON Missense_Q331H,Missense_Q331H,Missense_Q331H,Missense_Q331H exm1505600 19 55144505 [T/G] NM_006669,NM_001081639,NM_001081638,NM_001081637 LILRB1,LILRB1,LILRB1,LILRB1 EXON Missense_G333C,Missense_G333C,Missense_G333C,Missense_G333C exm1505606 19 55144556 [A/G] NM_006669,NM_001081639,NM_001081638,NM_001081637 LILRB1,LILRB1,LILRB1,LILRB1 EXON Missense_G350R,Missense_G350R,Missense_G350R,Missense_G350R exm1505607 19 55144580 [A/T] NM_006669,NM_001081639,NM_001081638,NM_001081637 LILRB1,LILRB1,LILRB1,LILRB1 EXON Missense_T358S,Missense_T358S,Missense_T358S,Missense_T358S exm1505609 19 55144607 [A/T] NM_006669,NM_001081639,NM_001081638,NM_001081637 LILRB1,LILRB1,LILRB1,LILRB1 EXON Missense_W367R,Missense_W367R,Missense_W367R,Missense_W367R exm1505612 19 55144623 [T/C] NM_006669,NM_001081639,NM_001081638,NM_001081637 LILRB1,LILRB1,LILRB1,LILRB1 EXON Missense_T372M,Missense_T372M,Missense_T372M,Missense_T372M exm1505719 19 55148267 [T/C] NM_006669,NM_001081639,NM_001081638,NM_001081637 LILRB1,LILRB1,LILRB1,LILRB1 EXON Missense_P631S,Missense_P632S,Missense_P632S,Missense_P633S exm1505724 19 55148309 [A/G] NM_006669,NM_001081639,NM_001081638,NM_001081637 LILRB1,LILRB1,LILRB1,LILRB1 EXON Missense_A645T,Missense_A646T,Missense_A646T,Missense_A647T exm-rs400322 19 55172578 [A/G] exm1505733 19 55174498 [T/C] NM_006847,NM_001081438 LILRB4,LILRB4 EXON Missense_F5L,Missense_F5L exm1505735 19 55174518 [T/C] NM_006847,NM_001081438 LILRB4,LILRB4 EXON Synonymous_L11L,Synonymous_L11L exm1505736 19 55174519 [G/C] NM_006847,NM_001081438 LILRB4,LILRB4 EXON Missense_G12R,Missense_G12R exm1505755 19 55175295 [A/G] NM_006847,NM_001081438 LILRB4,LILRB4 EXON Missense_T52A,Missense_T52A exm1505767 19 55175471 [A/T] NM_006847,NM_001081438 LILRB4,LILRB4 EXON Missense_S110R,Missense_S110R exm1505768 19 55175475 [C/G] NM_006847,NM_001081438 LILRB4,LILRB4 EXON Missense_P112A,Missense_P112A exm1505769 19 55175636 [A/G] NM_006847,NM_001081438 LILRB4,LILRB4 Silent,Silent exm1505772 19 55175723 [A/G] NM_006847,NM_001081438 LILRB4,LILRB4 EXON Missense_S148G,Missense_S148G exm1505774 19 55175757 [A/G] NM_006847,NM_001081438 LILRB4,LILRB4 EXON Missense_R159Q,Missense_R159Q exm1505775 19 55175795 [A/G] NM_006847,NM_001081438 LILRB4,LILRB4 EXON Missense_G172R,Missense_G172R exm1505779 19 55175843 [C/G] NM_006847,NM_001081438 LILRB4,LILRB4 EXON Missense_V188L,Missense_V188L exm1505781 19 55175849 [A/G] NM_006847,NM_001081438 LILRB4,LILRB4 EXON Missense_G190R,Missense_G190R exm1505783 19 55175856 [T/C] NM_006847,NM_001081438 LILRB4,LILRB4 EXON Missense_T192I,Missense_T192I exm1505791 19 55176262 [A/G] NM_006847,NM_001081438 LILRB4,LILRB4 EXON Missense_D223G,Missense_D223G exm1505807 19 55177358 [T/C] NM_006847,NM_001081438 LILRB4,LILRB4 EXON Missense_R284C,Missense_R284C exm1505808 19 55177359 [A/G] NM_006847,NM_001081438 LILRB4,LILRB4 EXON Missense_R284H,Missense_R284H exm1505809 19 55177373 [A/G] NM_006847,NM_001081438 LILRB4,LILRB4 EXON Missense_R289G,Missense_R289G exm1505810 19 55177691 [T/C] NM_006847,NM_001081438 LILRB4,LILRB4 EXON Missense_A292V,Missense_A292V exm1505815 19 55177741 [T/C] NM_006847,NM_001081438 LILRB4,LILRB4 EXON Missense_P309S,Missense_P309S exm1505828 19 55178171 [T/C] NM_006847,NM_001081438 LILRB4,LILRB4 EXON Missense_P338S,Missense_P338S exm1950729 19 55178201 [T/G] NM_006847,NM_001081438 LILRB4,LILRB4 Silent,Silent exm1505875 19 55179424 [G/C] NM_006847,NM_001081438 LILRB4,LILRB4 EXON Missense_A434G,Missense_A433G exm2272803 19 55226402 [T/C] exm2254023 19 55237616 [T/C] NM_153443 KIR3DL3 EXON Synonymous_N56N exm1505928 19 55247288 [T/C] NM_153443 KIR3DL3 EXON Synonymous_N352N exm1506233 19 55315347 [A/G] NM_001258383,NM_001080770,NM_002255,NM_001080772 LOC100287534,KIR2DL4,KIR2DL4,KIR2DL4 EXON Synonymous_G53G,Synonymous_G14G,Synonymous_G14G,Synonymous_G14G exm1506245 19 55316329 [A/G] NM_001258383,NM_001080770,NM_002255,NM_001080772 LOC100287534,KIR2DL4,KIR2DL4,KIR2DL4 EXON Missense_Y92C,Missense_Y53C,Missense_Y53C,Missense_Y53C exm1506247 19 55316334 [C/G] NM_001258383,NM_001080770,NM_002255,NM_001080772 LOC100287534,KIR2DL4,KIR2DL4,KIR2DL4 EXON Missense_R94G,Missense_R55G,Missense_R55G,Missense_R55G exm1506323 19 55329922 [T/A] NM_013289 KIR3DL1 EXON Missense_I75L exm1506324 19 55329934 [A/G] NM_013289 KIR3DL1 EXON Missense_S79G exm1506341 19 55331287 [T/G] NM_013289 KIR3DL1 EXON Missense_G159W exm1506449 19 55346544 [C/G] NM_012314 KIR2DS4 EXON Missense_L15F exm1506478 19 55349264 [A/G] NM_012314 KIR2DS4 EXON Missense_G102S exm1506507 19 55351047 [T/C] NM_012314 KIR2DS4 EXON Missense_L179F exm1506540 19 55363599 [A/G] NM_006737,NM_001242867 KIR3DL2,KIR3DL2 EXON Missense_G73S,Missense_G73S exm1506558 19 55365343 [A/G] NM_006737,NM_001242867 KIR3DL2,KIR3DL2 EXON Missense_R166H,Missense_R166H exm1506594 19 55377838 [A/G] NM_006737,NM_001242867 KIR3DL2,KIR3DL2 EXON Missense_M373I,Missense_M356I exm1506595 19 55377851 [C/G] NM_006737,NM_001242867 KIR3DL2,KIR3DL2 EXON Missense_A378P,Missense_A361P exm2230134 19 55378173 [A/C] NM_006737,NM_001242867 KIR3DL2,KIR3DL2 EXON Missense_E452A,Missense_E435A exm1506614 19 55378178 [T/G] NM_006737,NM_001242867 KIR3DL2,KIR3DL2 EXON Missense_V454F,Missense_V437F exm1506628 19 55386792 [C/G] NM_133279,NM_133278,NM_133277,NM_133269,NM_133274,NM_133271,NM_002000,NM_133273,NM_133272 FCAR,FCAR,FCAR,FCAR,FCAR,FCAR,FCAR,FCAR,FCAR EXON Missense_C14S,Silent,Silent,Missense_C14S,Silent,Missense_C14S,Missense_C14S,Silent,Silent exm1506634 19 55396677 [A/C] NM_133279,NM_133278,NM_133277,NM_133269,NM_133274,NM_133271,NM_002000,NM_133273,NM_133272 FCAR,FCAR,FCAR,FCAR,FCAR,FCAR,FCAR,FCAR,FCAR EXON Missense_K34T,Missense_K22T,Silent,Missense_K34T,Missense_K22T,Missense_K34T,Missense_K34T,Missense_K22T,Missense_K22T exm1506656 19 55396913 [A/G] NM_133279,NM_133278,NM_133277,NM_133269,NM_133274,NM_133271,NM_002000,NM_133273,NM_133272 FCAR,FCAR,FCAR,FCAR,FCAR,FCAR,FCAR,FCAR,FCAR EXON Missense_D113N,Missense_D101N,Silent,Missense_D113N,Missense_D101N,Missense_D113N,Missense_D113N,Missense_D101N,Missense_D101N exm1506662 19 55399503 [T/C] NM_133279,NM_133278,NM_133277,NM_133269,NM_133274,NM_133271,NM_002000,NM_133273,NM_133272 FCAR,FCAR,FCAR,FCAR,FCAR,FCAR,FCAR,FCAR,FCAR EXON Missense_L164P,Missense_L152P,Missense_L55P,Missense_L164P,Missense_L152P,Silent,Missense_L164P,Silent,Missense_L152P exm1506672 19 55399553 [T/G] NM_133279,NM_133278,NM_133277,NM_133269,NM_133274,NM_133271,NM_002000,NM_133273,NM_133272 FCAR,FCAR,FCAR,FCAR,FCAR,FCAR,FCAR,FCAR,FCAR EXON Missense_G181C,Missense_G169C,Missense_G72C,Missense_G181C,Missense_G169C,Silent,Missense_G181C,Silent,Missense_G169C exm1950942 19 55399719 [A/G] NM_133279,NM_133278,NM_133277,NM_133269,NM_133274,NM_133271,NM_002000,NM_133273,NM_133272 FCAR,FCAR,FCAR,FCAR,FCAR,FCAR,FCAR,FCAR,FCAR EXON Missense_R236Q,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm1506690 19 55401162 [T/C] NM_133278,NM_133277,NM_133269,NM_133274,NM_133271,NM_002000,NM_133273,NM_133272 FCAR,FCAR,FCAR,FCAR,FCAR,FCAR,FCAR,FCAR EXON Missense_P232L,Missense_P157L,Missense_P244L,Silent,Missense_P170L,Missense_P266L,Missense_P158L,Missense_P254L exm1506691 19 55401170 [A/G] NM_133278,NM_133277,NM_133269,NM_133274,NM_133271,NM_002000,NM_133273,NM_133272 FCAR,FCAR,FCAR,FCAR,FCAR,FCAR,FCAR,FCAR EXON Missense_S235G,Missense_S160G,Missense_S247G,Silent,Missense_S173G,Missense_S269G,Missense_S161G,Missense_S257G exm2275118 19 55401201 [T/C] NM_133278,NM_133277,NM_133269,NM_133274,NM_133271,NM_002000,NM_133273,NM_133272 FCAR,FCAR,FCAR,FCAR,FCAR,FCAR,FCAR,FCAR EXON Missense_F245S,Missense_F170S,Missense_F257S,Silent,Missense_F183S,Missense_F279S,Missense_F171S,Missense_F267S exm1506719 19 55418054 [A/C] NM_001242356,NM_004829,NM_001145457,NM_001145458,NM_001242357 NCR1,NCR1,NCR1,NCR1,NCR1 EXON Silent,Missense_K82Q,Missense_K82Q,Missense_K82Q,Silent exm1506720 19 55418082 [T/G] NM_001242356,NM_004829,NM_001145457,NM_001145458,NM_001242357 NCR1,NCR1,NCR1,NCR1,NCR1 EXON Silent,Missense_R91L,Missense_R91L,Missense_R91L,Silent exm1506721 19 55418085 [T/C] NM_001242356,NM_004829,NM_001145457,NM_001145458,NM_001242357 NCR1,NCR1,NCR1,NCR1,NCR1 EXON Silent,Missense_M92T,Missense_M92T,Missense_M92T,Silent exm1506724 19 55418145 [T/C] NM_001242356,NM_004829,NM_001145457,NM_001145458,NM_001242357 NCR1,NCR1,NCR1,NCR1,NCR1 EXON Silent,Missense_L112S,Missense_L112S,Missense_L112S,Silent exm1506731 19 55420645 [A/G] NM_001242356,NM_004829,NM_001145457,NM_001145458,NM_001242357 NCR1,NCR1,NCR1,NCR1,NCR1 EXON Missense_E38K,Missense_E133K,Missense_E133K,Missense_E133K,Missense_E38K exm1506735 19 55420738 [A/G] NM_001242356,NM_004829,NM_001145457,NM_001145458,NM_001242357 NCR1,NCR1,NCR1,NCR1,NCR1 EXON Missense_V69I,Missense_V164I,Missense_V164I,Missense_V164I,Missense_V69I exm1506742 19 55420771 [T/A] NM_001242356,NM_004829,NM_001145457,NM_001145458,NM_001242357 NCR1,NCR1,NCR1,NCR1,NCR1 EXON Missense_F80I,Missense_F175I,Missense_F175I,Missense_F175I,Missense_F80I exm1506748 19 55421383 [A/C] NM_001242356,NM_004829,NM_001145457,NM_001145458,NM_001242357 NCR1,NCR1,NCR1,NCR1,NCR1 EXON Missense_I119L,Missense_I214L,Missense_I214L,Missense_I214L,Missense_I119L exm1950957 19 55421387 [A/G] NM_001242356,NM_004829,NM_001145457,NM_001145458,NM_001242357 NCR1,NCR1,NCR1,NCR1,NCR1 EXON Missense_E120G,Missense_E215G,Missense_E215G,Missense_E215G,Missense_E120G exm2272804 19 55434502 [T/C] exm1506780 19 55441871 [T/G] NM_139176,NM_206828,NM_001127255 NLRP7,NLRP7,NLRP7 EXON Missense_L908I,Missense_L936I,Missense_L936I exm1506781 19 55441889 [A/T] NM_139176,NM_206828,NM_001127255 NLRP7,NLRP7,NLRP7 EXON Missense_N902Y,Missense_N930Y,Missense_N930Y exm1506784 19 55441939 [T/C] NM_139176,NM_206828,NM_001127255 NLRP7,NLRP7,NLRP7 EXON Missense_N885S,Missense_N913S,Missense_N913S exm1506801 19 55445082 [T/C] NM_139176,NM_206828,NM_001127255 NLRP7,NLRP7,NLRP7 EXON Missense_A805T,Missense_A833T,Missense_A833T exm1506806 19 55445884 [T/C] NM_139176,NM_206828,NM_001127255 NLRP7,NLRP7,NLRP7 EXON Missense_R787H,Missense_R815H,Missense_R815H exm2275119 19 55445944 [A/C] NM_139176,NM_206828,NM_001127255 NLRP7,NLRP7,NLRP7 EXON Missense_R767L,Missense_R795L,Missense_R795L exm1506809 19 55445945 [A/G] NM_139176,NM_206828,NM_001127255 NLRP7,NLRP7,NLRP7 EXON Missense_R767C,Missense_R795C,Missense_R795C exm1950990 19 55447681 [C/G] NM_139176,NM_206828,NM_001127255 NLRP7,NLRP7,NLRP7 EXON Missense_L722V,Missense_L750V,Missense_L750V exm1506815 19 55447689 [A/G] NM_139176,NM_206828,NM_001127255 NLRP7,NLRP7,NLRP7 EXON Missense_T719M,Missense_T747M,Missense_T747M exm1506824 19 55447773 [A/G] NM_139176,NM_206828,NM_001127255 NLRP7,NLRP7,NLRP7 EXON Missense_A691V,Missense_A719V,Missense_A719V exm1506827 19 55447789 [T/C] NM_139176,NM_206828,NM_001127255 NLRP7,NLRP7,NLRP7 EXON Missense_V686I,Missense_V714I,Missense_V714I exm1506831 19 55449436 [T/C] NM_139176,NM_206828,NM_001127255 NLRP7,NLRP7,NLRP7 EXON Missense_S674N,Missense_S702N,Missense_S702N exm1506832 19 55449446 [T/C] NM_139176,NM_206828,NM_001127255 NLRP7,NLRP7,NLRP7 EXON Missense_V671I,Missense_V699I,Missense_V699I exm1506835 19 55449464 [A/G] NM_139176,NM_206828,NM_001127255 NLRP7,NLRP7,NLRP7 EXON Missense_R665W,Missense_R693W,Missense_R693W exm1506840 19 55449578 [A/G] NM_139176,NM_206828,NM_001127255 NLRP7,NLRP7,NLRP7 EXON Silent,Missense_R655W,Missense_R655W exm1506856 19 55450469 [T/C] NM_139176,NM_206828,NM_001127255 NLRP7,NLRP7,NLRP7 EXON Missense_G573D,Missense_G573D,Missense_G573D exm1506867 19 55450655 [T/C] NM_139176,NM_206828,NM_001127255 NLRP7,NLRP7,NLRP7 EXON Missense_K511R,Missense_K511R,Missense_K511R exm1506869 19 55450676 [A/G] NM_139176,NM_206828,NM_001127255 NLRP7,NLRP7,NLRP7 EXON Missense_L504P,Missense_L504P,Missense_L504P exm1506909 19 55451232 [T/C] NM_139176,NM_206828,NM_001127255 NLRP7,NLRP7,NLRP7 EXON Missense_V319I,Missense_V319I,Missense_V319I exm1506918 19 55451352 [A/C] NM_139176,NM_206828,NM_001127255 NLRP7,NLRP7,NLRP7 EXON Missense_V279L,Missense_V279L,Missense_V279L exm1506923 19 55451378 [T/C] NM_139176,NM_206828,NM_001127255 NLRP7,NLRP7,NLRP7 EXON Missense_C270Y,Missense_C270Y,Missense_C270Y exm1951017 19 55451436 [T/C] NM_139176,NM_206828,NM_001127255 NLRP7,NLRP7,NLRP7 EXON Missense_V251M,Missense_V251M,Missense_V251M exm1506930 19 55451438 [A/C] NM_139176,NM_206828,NM_001127255 NLRP7,NLRP7,NLRP7 EXON Missense_F250C,Missense_F250C,Missense_F250C exm1506931 19 55451486 [A/G] NM_139176,NM_206828,NM_001127255 NLRP7,NLRP7,NLRP7 EXON Missense_L234S,Missense_L234S,Missense_L234S exm1506938 19 55451613 [T/G] NM_139176,NM_206828,NM_001127255 NLRP7,NLRP7,NLRP7 EXON Missense_M192L,Missense_M192L,Missense_M192L exm1506942 19 55451720 [T/C] NM_139176,NM_206828,NM_001127255 NLRP7,NLRP7,NLRP7 EXON Missense_R156Q,Missense_R156Q,Missense_R156Q exm1506948 19 55452353 [T/C] NM_139176,NM_206828,NM_001127255 NLRP7,NLRP7,NLRP7 EXON Missense_I100V,Missense_I100V,Missense_I100V exm1506951 19 55452829 [T/C] NM_139176,NM_206828,NM_001127255 NLRP7,NLRP7,NLRP7 EXON Missense_C84Y,Missense_C84Y,Missense_C84Y exm2230139 19 55452958 [A/G] NM_139176,NM_206828,NM_001127255 NLRP7,NLRP7,NLRP7 EXON Missense_T41I,Missense_T41I,Missense_T41I exm1506956 19 55452995 [A/C] NM_139176,NM_206828,NM_001127255 NLRP7,NLRP7,NLRP7 EXON Missense_L29V,Missense_L29V,Missense_L29V exm1506963 19 55481394 [T/C] NM_001174081,NM_001174083,NM_017852,NM_001174082 NLRP2,NLRP2,NLRP2,NLRP2 EXON Missense_S4L,Missense_S4L,Missense_S4L,Missense_S4L exm2254025 19 55481398 [A/G] NM_001174081,NM_001174083,NM_017852,NM_001174082 NLRP2,NLRP2,NLRP2,NLRP2 EXON Synonymous_A5A,Synonymous_A5A,Synonymous_A5A,Synonymous_A5A exm1506969 19 55481455 [G/C] NM_001174081,NM_001174083,NM_017852,NM_001174082 NLRP2,NLRP2,NLRP2,NLRP2 EXON Missense_S24R,Missense_S24R,Missense_S24R,Missense_S24R exm1951036 19 55485879 [A/G] NM_001174081,NM_001174083,NM_017852,NM_001174082 NLRP2,NLRP2,NLRP2,NLRP2 EXON Missense_K98E,Missense_K75E,Missense_K98E,Missense_K98E exm1506997 19 55492986 [G/C] NM_001174081,NM_001174083,NM_017852,NM_001174082 NLRP2,NLRP2,NLRP2,NLRP2 EXON Synonymous_A133A,Synonymous_A110A,Synonymous_A133A,Silent exm1507014 19 55493728 [T/C] NM_001174081,NM_001174083,NM_017852,NM_001174082 NLRP2,NLRP2,NLRP2,NLRP2 EXON Missense_T221M,Missense_T198M,Missense_T221M,Missense_T199M exm1507015 19 55493745 [A/C] NM_001174081,NM_001174083,NM_017852,NM_001174082 NLRP2,NLRP2,NLRP2,NLRP2 EXON Missense_M227L,Missense_M204L,Missense_M227L,Missense_M205L exm1507018 19 55493821 [A/G] NM_001174081,NM_001174083,NM_017852,NM_001174082 NLRP2,NLRP2,NLRP2,NLRP2 EXON Missense_R252H,Missense_R229H,Missense_R252H,Missense_R230H exm1507033 19 55493970 [G/C] NM_001174081,NM_001174083,NM_017852,NM_001174082 NLRP2,NLRP2,NLRP2,NLRP2 EXON Missense_E302Q,Missense_E279Q,Missense_E302Q,Missense_E280Q exm1507043 19 55494015 [T/C] NM_001174081,NM_001174083,NM_017852,NM_001174082 NLRP2,NLRP2,NLRP2,NLRP2 EXON Missense_L317F,Missense_L294F,Missense_L317F,Missense_L295F exm1507048 19 55494057 [T/G] NM_001174081,NM_001174083,NM_017852,NM_001174082 NLRP2,NLRP2,NLRP2,NLRP2 EXON Missense_A331S,Missense_A308S,Missense_A331S,Missense_A309S exm1507050 19 55494076 [A/G] NM_001174081,NM_001174083,NM_017852,NM_001174082 NLRP2,NLRP2,NLRP2,NLRP2 EXON Missense_R337Q,Missense_R314Q,Missense_R337Q,Missense_R315Q exm1507051 19 55494078 [T/C] NM_001174081,NM_001174083,NM_017852,NM_001174082 NLRP2,NLRP2,NLRP2,NLRP2 EXON Missense_P338S,Missense_P315S,Missense_P338S,Missense_P316S exm1507108 19 55494587 [A/G] NM_001174081,NM_001174083,NM_017852,NM_001174082 NLRP2,NLRP2,NLRP2,NLRP2 EXON Synonymous_Q507Q,Synonymous_Q484Q,Synonymous_Q507Q,Synonymous_Q485Q exm1507124 19 55494730 [A/G] NM_001174081,NM_001174083,NM_017852,NM_001174082 NLRP2,NLRP2,NLRP2,NLRP2 EXON Missense_Y555C,Missense_Y532C,Missense_Y555C,Missense_Y533C exm1507129 19 55494747 [A/G] NM_001174081,NM_001174083,NM_017852,NM_001174082 NLRP2,NLRP2,NLRP2,NLRP2 EXON Missense_A561T,Missense_A538T,Missense_A561T,Missense_A539T exm1507132 19 55494793 [A/G] NM_001174081,NM_001174083,NM_017852,NM_001174082 NLRP2,NLRP2,NLRP2,NLRP2 EXON Missense_R576Q,Missense_R553Q,Missense_R576Q,Missense_R554Q exm1507134 19 55494802 [T/C] NM_001174081,NM_001174083,NM_017852,NM_001174082 NLRP2,NLRP2,NLRP2,NLRP2 EXON Missense_P579L,Missense_P556L,Missense_P579L,Missense_P557L exm1507136 19 55494814 [A/C] NM_001174081,NM_001174083,NM_017852,NM_001174082 NLRP2,NLRP2,NLRP2,NLRP2 EXON Missense_Q583P,Missense_Q560P,Missense_Q583P,Missense_Q561P exm1507137 19 55494831 [T/G] NM_001174081,NM_001174083,NM_017852,NM_001174082 NLRP2,NLRP2,NLRP2,NLRP2 EXON Missense_D589Y,Missense_D566Y,Missense_D589Y,Missense_D567Y exm1507138 19 55494852 [T/C] NM_001174081,NM_001174083,NM_017852,NM_001174082 NLRP2,NLRP2,NLRP2,NLRP2 EXON Missense_H596Y,Missense_H573Y,Missense_H596Y,Missense_H574Y exm1507142 19 55494951 [T/C] NM_001174081,NM_001174083,NM_017852,NM_001174082 NLRP2,NLRP2,NLRP2,NLRP2 EXON Missense_S629P,Missense_S606P,Missense_S629P,Missense_S607P exm1507143 19 55494955 [T/C] NM_001174081,NM_001174083,NM_017852,NM_001174082 NLRP2,NLRP2,NLRP2,NLRP2 EXON Missense_L630P,Missense_L607P,Missense_L630P,Missense_L608P exm2254026 19 55496583 [A/G] NM_001174081,NM_001174083,NM_017852,NM_001174082 NLRP2,NLRP2,NLRP2,NLRP2 EXON Synonymous_V733V,Synonymous_V710V,Synonymous_V733V,Synonymous_V711V exm1507169 19 55497674 [A/G] NM_001174081,NM_001174083,NM_017852,NM_001174082 NLRP2,NLRP2,NLRP2,NLRP2 EXON Missense_R786Q,Missense_R763Q,Missense_R786Q,Missense_R764Q exm1507173 19 55501424 [A/G] NM_001174081,NM_001174083,NM_017852,NM_001174082 NLRP2,NLRP2,NLRP2,NLRP2 EXON Missense_A801T,Missense_A778T,Missense_A801T,Missense_A779T exm1507179 19 55501481 [A/G] NM_001174081,NM_001174083,NM_017852,NM_001174082 NLRP2,NLRP2,NLRP2,NLRP2 EXON Missense_D820N,Missense_D797N,Missense_D820N,Missense_D798N exm1507191 19 55505686 [G/C] NM_001174081,NM_001174083,NM_017852,NM_001174082 NLRP2,NLRP2,NLRP2,NLRP2 EXON Missense_L920V,Missense_L897V,Missense_L920V,Missense_L898V exm1507201 19 55508725 [G/C] NM_001174081,NM_001174083,NM_017852,NM_001174082 NLRP2,NLRP2,NLRP2,NLRP2 EXON Missense_L974V,Missense_L951V,Missense_L974V,Missense_L952V exm1507210 19 55512160 [A/G] NM_001174081,NM_001174083,NM_017852,NM_001174082 NLRP2,NLRP2,NLRP2,NLRP2 EXON Missense_N1028S,Missense_N1005S,Missense_N1028S,Missense_N1006S exm1507212 19 55512172 [T/A] NM_001174081,NM_001174083,NM_017852,NM_001174082 NLRP2,NLRP2,NLRP2,NLRP2 EXON Missense_E1032V,Missense_E1009V,Missense_E1032V,Missense_E1010V exm1507213 19 55512177 [A/G] NM_001174081,NM_001174083,NM_017852,NM_001174082 NLRP2,NLRP2,NLRP2,NLRP2 EXON Missense_I1034V,Missense_I1011V,Missense_I1034V,Missense_I1012V exm1507216 19 55512201 [A/G] NM_001174081,NM_001174083,NM_017852,NM_001174082 NLRP2,NLRP2,NLRP2,NLRP2 EXON Missense_I1042V,Missense_I1019V,Missense_I1042V,Missense_I1020V exm1507217 19 55512232 [A/C] NM_001174081,NM_001174083,NM_017852,NM_001174082 NLRP2,NLRP2,NLRP2,NLRP2 EXON Missense_A1052E,Missense_A1029E,Missense_A1052E,Missense_A1030E exm1507226 19 55525508 [A/G] NM_001256017,NM_016363,NM_001083899 GP6,GP6,GP6 EXON Silent,Silent,Missense_T602M exm1507227 19 55525524 [T/G] NM_001256017,NM_016363,NM_001083899 GP6,GP6,GP6 EXON Silent,Silent,Missense_T597P exm1507238 19 55525763 [A/C] NM_001256017,NM_016363,NM_001083899 GP6,GP6,GP6 EXON Silent,Silent,Missense_M517R exm1507239 19 55525788 [T/C] NM_001256017,NM_016363,NM_001083899 GP6,GP6,GP6 EXON Silent,Silent,Missense_T509A exm1507240 19 55525818 [T/C] NM_001256017,NM_016363,NM_001083899 GP6,GP6,GP6 EXON Silent,Silent,Missense_G499S exm1507242 19 55525854 [A/G] NM_001256017,NM_016363,NM_001083899 GP6,GP6,GP6 EXON Silent,Silent,Missense_P487S exm-IND19-60217915 19 55526104 [I/D] NM_001256017,NM_016363,NM_001083899 GP6,GP6,GP6 EXON exm1507262 19 55526270 [T/C] NM_001256017,NM_016363,NM_001083899 GP6,GP6,GP6 EXON Silent,Silent,Missense_R348Q exm1507267 19 55526340 [C/G] NM_001256017,NM_016363,NM_001083899 GP6,GP6,GP6 EXON Synonymous_G305G,Synonymous_G323G,Missense_G325R exm1507268 19 55526342 [T/C] NM_001256017,NM_016363,NM_001083899 GP6,GP6,GP6 EXON Missense_G305R,Missense_G323R,Missense_R324Q exm1507269 19 55526345 [T/G] NM_001256017,NM_016363,NM_001083899 GP6,GP6,GP6 EXON Missense_N304H,Missense_N322H,Missense_K323T exm1507270 19 55526359 [A/T] NM_001256017,NM_016363,NM_001083899 GP6,GP6,GP6 EXON Missense_L299Q,Missense_L317Q,Synonymous_A318A exm1951114 19 55526371 [A/G] NM_001256017,NM_016363,NM_001083899 GP6,GP6,GP6 EXON Missense_P295L,Missense_P313L,Synonymous_P314P exm1507277 19 55526428 [T/C] NM_001256017,NM_016363,NM_001083899 GP6,GP6,GP6 EXON Missense_R276Q,Missense_R294Q,Synonymous_P295P exm1507278 19 55526429 [A/G] NM_001256017,NM_016363,NM_001083899 GP6,GP6,GP6 EXON Missense_R276W,Missense_R294W,Missense_P295L exm1507280 19 55526481 [T/C] NM_001256017,NM_016363,NM_001083899 GP6,GP6,GP6 EXON Synonymous_G258G,Synonymous_G276G,Missense_G278S exm1507288 19 55527081 [T/C] NM_001256017,NM_016363,NM_001083899 GP6,GP6,GP6 EXON Missense_A231T,Missense_A249T,Missense_A249T exm1507292 19 55536595 [A/G] NM_001256017,NM_016363,NM_001083899 GP6,GP6,GP6 EXON Silent,Missense_P219S,Missense_P219S exm1507295 19 55536640 [T/C] NM_001256017,NM_016363,NM_001083899 GP6,GP6,GP6 Silent,Silent,Silent exm1507297 19 55538972 [T/C] NM_001256017,NM_016363,NM_001083899 GP6,GP6,GP6 EXON Missense_S195N,Missense_S195N,Missense_S195N exm1507309 19 55543525 [C/G] NM_001256017,NM_016363,NM_001083899 GP6,GP6,GP6 EXON Missense_L103V,Missense_L103V,Missense_L103V exm1507312 19 55543660 [A/G] NM_001256017,NM_016363,NM_001083899 GP6,GP6,GP6 EXON Missense_R58C,Missense_R58C,Missense_R58C exm1507339 19 55556527 [T/A] NM_138412,NM_001145971,NR_027382,NR_027381 RDH13,RDH13,RDH13,RDH13 EXON Missense_E233V,Missense_E304V,Silent,Silent exm1507344 19 55556573 [T/C] NM_138412,NM_001145971,NR_027382,NR_027381 RDH13,RDH13,RDH13,RDH13 EXON Missense_D218N,Missense_D289N,Silent,Silent exm1507358 19 55558829 [T/C] NM_138412,NM_001145971,NR_027382,NR_027381 RDH13,RDH13,RDH13,RDH13 EXON Missense_H158R,Missense_H229R,Silent,Silent exm1507376 19 55559855 [A/G] NM_138412,NM_001145971,NR_027382,NR_027381 RDH13,RDH13,RDH13,RDH13 EXON Missense_S96L,Missense_S167L,Silent,Silent exm1507382 19 55560054 [T/C] NM_138412,NM_001145971,NR_027382,NR_027381 RDH13,RDH13,RDH13,RDH13 EXON Missense_E69K,Missense_E140K,Silent,Silent exm1507387 19 55560123 [A/G] NM_138412,NM_001145971,NR_027382,NR_027381 RDH13,RDH13,RDH13,RDH13 EXON Nonsense_R46X,Nonsense_R117X,Silent,Silent exm1507395 19 55568059 [A/C] NM_138412,NM_001145971,NR_027382,NR_027381 RDH13,RDH13,RDH13,RDH13 EXON Missense_L30R,Missense_L101R,Silent,Silent exm1507397 19 55568066 [G/C] NM_138412,NM_001145971,NR_027382,NR_027381 RDH13,RDH13,RDH13,RDH13 EXON Missense_A28P,Missense_A99P,Silent,Silent exm1507399 19 55568084 [T/C] NM_138412,NM_001145971,NR_027382,NR_027381 RDH13,RDH13,RDH13,RDH13 EXON Missense_A22T,Missense_A93T,Silent,Silent exm2275120 19 55568085 [A/G] NM_138412,NM_001145971,NR_027382,NR_027381 RDH13,RDH13,RDH13,RDH13 EXON Synonymous_N21N,Synonymous_N92N,Silent,Silent exm1507402 19 55568114 [A/G] NM_138412,NM_001145971,NR_027382,NR_027381 RDH13,RDH13,RDH13,RDH13 EXON Missense_R12C,Missense_R83C,Silent,Silent exm1507412 19 55570590 [A/G] NM_138412,NM_001145971,NR_027382,NR_027381 RDH13,RDH13,RDH13,RDH13 EXON Silent,Missense_T40M,Silent,Silent exm1507416 19 55587822 [A/G] NM_133180 EPS8L1 EXON Missense_A4T exm1507434 19 55591158 [T/C] NM_133180 EPS8L1 EXON Missense_A73V exm1507438 19 55591205 [A/G] NM_133180 EPS8L1 EXON Missense_D89N exm1507443 19 55591534 [A/G] NM_133180 EPS8L1 EXON Missense_R106H exm1507449 19 55591614 [A/G] NM_133180 EPS8L1 EXON Missense_D133N exm1507455 19 55592141 [G/C] NM_133180,NM_017729 EPS8L1,EPS8L1 EXON Missense_A144G,Missense_A17G exm1507461 19 55592210 [T/C] NM_133180,NM_017729 EPS8L1,EPS8L1 EXON Missense_A167V,Missense_A40V exm1507478 19 55593201 [A/G] NM_133180,NM_017729 EPS8L1,EPS8L1 EXON Missense_A279T,Missense_A152T exm1507488 19 55593646 [G/C] NM_133180,NM_017729 EPS8L1,EPS8L1 EXON Missense_R332G,Missense_R205G exm1507491 19 55593680 [T/C] NM_133180,NM_017729 EPS8L1,EPS8L1 EXON Missense_P343L,Missense_P216L exm1507494 19 55593837 [C/G] NM_133180,NM_017729 EPS8L1,EPS8L1 EXON Missense_G361R,Missense_G234R exm1507498 19 55593929 [C/G] NM_133180,NM_017729 EPS8L1,EPS8L1 EXON Missense_N391K,Missense_N264K exm1507510 19 55597247 [T/A] NM_133180,NM_017729 EPS8L1,EPS8L1 EXON Missense_E475V,Missense_E348V exm1507511 19 55597277 [G/C] NM_133180,NM_017729 EPS8L1,EPS8L1 EXON Missense_C485S,Missense_C358S exm1507522 19 55597880 [T/G] NM_133180,NM_017729 EPS8L1,EPS8L1 EXON Nonsense_E591X,Nonsense_E464X exm1507530 19 55598712 [T/C] NM_133180,NM_017729 EPS8L1,EPS8L1 EXON Missense_F665S,Missense_F538S exm1507532 19 55598724 [A/G] NM_133180,NM_017729 EPS8L1,EPS8L1 EXON Missense_K669R,Missense_K542R exm1507536 19 55598793 [T/C] NM_133180,NM_017729 EPS8L1,EPS8L1 EXON Missense_S692L,Missense_S565L exm1507541 19 55598918 [T/C] NM_133180,NM_017729 EPS8L1,EPS8L1 EXON Missense_L703P,Missense_L576P exm1507542 19 55598927 [T/C] NM_133180,NM_017729 EPS8L1,EPS8L1 EXON Missense_V706A,Missense_V579A exm1507551 19 55602910 [T/C] NM_001271618,NM_017607 PPP1R12C,PPP1R12C EXON Missense_R758H,Missense_R760H exm1507566 19 55603678 [A/C] NM_001271618,NM_017607 PPP1R12C,PPP1R12C EXON Missense_R689L,Missense_R691L exm1507600 19 55606081 [T/C] NM_001271618,NM_017607 PPP1R12C,PPP1R12C EXON Missense_N513D,Missense_N514D exm1507614 19 55606944 [A/G] NM_001271618,NM_017607 PPP1R12C,PPP1R12C EXON Missense_R418C,Missense_R419C exm1507615 19 55606956 [C/G] NM_001271618,NM_017607 PPP1R12C,PPP1R12C EXON Missense_P414A,Missense_P415A exm1507617 19 55607273 [A/C] NM_001271618,NM_017607 PPP1R12C,PPP1R12C EXON Missense_V397F,Missense_V397F exm1507624 19 55607485 [A/G] NM_001271618,NM_017607 PPP1R12C,PPP1R12C EXON Missense_R363C,Missense_R363C exm1507631 19 55607699 [T/C] NM_001271618,NM_017607 PPP1R12C,PPP1R12C EXON Missense_R319Q,Missense_R319Q exm1951243 19 55610186 [G/C] NM_001271618,NM_017607 PPP1R12C,PPP1R12C EXON Missense_S306T,Missense_S306T exm1507653 19 55623871 [T/G] NM_001271618,NM_017607 PPP1R12C,PPP1R12C EXON Missense_M179L,Missense_M179L exm1507660 19 55623925 [T/C] NM_001271618,NM_017607 PPP1R12C,PPP1R12C EXON Missense_A161T,Missense_A161T exm1507664 19 55624058 [A/T] NM_001271618,NM_017607 PPP1R12C,PPP1R12C EXON Missense_S143T,Missense_S143T exm1507666 19 55624078 [A/G] NM_001271618,NM_017607 PPP1R12C,PPP1R12C EXON Missense_T136M,Missense_T136M exm2272839 19 55633043 [T/C] exm1951264 19 55645567 [T/C] NM_001126132,NM_001126133,NM_003283 TNNT1,TNNT1,TNNT1 EXON Silent,Silent,Missense_R206Q exm1507686 19 55648472 [A/G] NM_001126132,NM_001126133,NM_003283 TNNT1,TNNT1,TNNT1 EXON Missense_R204W,Missense_R193W,Missense_R204W exm1507688 19 55648520 [T/C] NM_001126132,NM_001126133,NM_003283 TNNT1,TNNT1,TNNT1 EXON Missense_E188K,Missense_E177K,Missense_E188K exm1951280 19 55653283 [A/G] NM_001126132,NM_001126133,NM_003283 TNNT1,TNNT1,TNNT1 EXON Missense_P45L,Missense_P34L,Missense_P45L exm1507707 19 55656925 [T/G] NM_001126132,NM_001126133,NM_003283 TNNT1,TNNT1,TNNT1 EXON Missense_R39S,Missense_R28S,Missense_R39S exm1507723 19 55663250 [A/G] NM_000363 TNNI3 EXON Missense_S195L exm1507724 19 55665410 [T/C] NM_000363 TNNI3 EXON Missense_R179K exm1507735 19 55667578 [T/C] NM_000363 TNNI3 EXON Missense_R91Q exm1507739 19 55667647 [A/C] NM_000363 TNNI3 EXON Missense_G68V exm1507740 19 55667653 [T/C] NM_000363 TNNI3 EXON Missense_R66K exm1507746 19 55668434 [A/G] NM_000363 TNNI3 EXON Missense_R31W exm1507759 19 55670467 [A/G] NM_001256715,NM_178837,NM_001256716,NM_001256714 DNAAF3,DNAAF3,DNAAF3,DNAAF3 EXON Missense_P530L,Missense_P577L,Missense_P476L,Missense_P597L exm1507762 19 55670642 [T/C] NM_001256715,NM_178837,NM_001256716,NM_001256714 DNAAF3,DNAAF3,DNAAF3,DNAAF3 EXON Missense_G472R,Missense_G519R,Missense_G418R,Missense_G539R exm1507764 19 55670651 [T/C] NM_001256715,NM_178837,NM_001256716,NM_001256714 DNAAF3,DNAAF3,DNAAF3,DNAAF3 EXON Missense_V469M,Missense_V516M,Missense_V415M,Missense_V536M exm1507772 19 55670771 [A/G] NM_001256715,NM_178837,NM_001256716,NM_001256714 DNAAF3,DNAAF3,DNAAF3,DNAAF3 EXON Missense_R429W,Missense_R476W,Missense_R375W,Missense_R496W exm1507776 19 55670804 [T/C] NM_001256715,NM_178837,NM_001256716,NM_001256714 DNAAF3,DNAAF3,DNAAF3,DNAAF3 EXON Missense_V418M,Missense_V465M,Missense_V364M,Missense_V485M exm1507789 19 55671337 [T/C] NM_001256715,NM_178837,NM_001256716,NM_001256714 DNAAF3,DNAAF3,DNAAF3,DNAAF3 EXON Missense_D365N,Missense_D412N,Missense_D311N,Missense_D432N exm1507795 19 55671375 [A/G] NM_001256715,NM_178837,NM_001256716,NM_001256714 DNAAF3,DNAAF3,DNAAF3,DNAAF3 EXON Missense_P352L,Missense_P399L,Missense_P298L,Missense_P419L exm1507796 19 55671382 [T/C] NM_001256715,NM_178837,NM_001256716,NM_001256714 DNAAF3,DNAAF3,DNAAF3,DNAAF3 Silent,Silent,Silent,Silent exm1507799 19 55672055 [A/G] NM_001256715,NM_178837,NM_001256716,NM_001256714 DNAAF3,DNAAF3,DNAAF3,DNAAF3 EXON Missense_L334P,Missense_L381P,Missense_L280P,Missense_L402P exm1951312 19 55672096 [G/C] NM_001256715,NM_178837,NM_001256716,NM_001256714 DNAAF3,DNAAF3,DNAAF3,DNAAF3 EXON Missense_D320E,Missense_D367E,Missense_D266E,Missense_D388E exm1507805 19 55672470 [T/C] NM_001256715,NM_178837,NM_001256716,NM_001256714 DNAAF3,DNAAF3,DNAAF3,DNAAF3 EXON Missense_E292G,Missense_E339G,Missense_E238G,Missense_E360G exm1507808 19 55672513 [T/C] NM_001256715,NM_178837,NM_001256716,NM_001256714 DNAAF3,DNAAF3,DNAAF3,DNAAF3 EXON Missense_A278T,Missense_A325T,Missense_A224T,Missense_A346T exm1507830 19 55673145 [T/C] NM_001256715,NM_178837,NM_001256716,NM_001256714 DNAAF3,DNAAF3,DNAAF3,DNAAF3 EXON Missense_G177S,Missense_G224S,Missense_G123S,Missense_G245S exm1507838 19 55673654 [T/C] NM_001256715,NM_178837,NM_001256716,NM_001256714 DNAAF3,DNAAF3,DNAAF3,DNAAF3 EXON Synonymous_R109R,Synonymous_R156R,Synonymous_R55R,Synonymous_R177R exm1951325 19 55676738 [T/C] NM_001256715,NM_178837,NM_001256716,NM_001256714 DNAAF3,DNAAF3,DNAAF3,DNAAF3 EXON Missense_E108K,Missense_E155K,Missense_E54K,Missense_E176K exm1507847 19 55677710 [T/G] NM_001256715,NM_178837,NM_001256716,NM_001256714 DNAAF3,DNAAF3,DNAAF3,DNAAF3 EXON Missense_D24E,Missense_D71E,Silent,Missense_D71E exm1507851 19 55677785 [T/C] NM_001256715,NM_178837,NM_001256716,NM_001256714 DNAAF3,DNAAF3,DNAAF3,DNAAF3 EXON Silent,Synonymous_R46R,Silent,Synonymous_R46R exm1507852 19 55677886 [A/C] NM_001256715,NM_178837,NM_001256716,NM_001256714 DNAAF3,DNAAF3,DNAAF3,DNAAF3 EXON Silent,Missense_W44L,Silent,Missense_W44L exm1507854 19 55677967 [T/C] NM_001256715,NM_178837,NM_001256716,NM_001256714 DNAAF3,DNAAF3,DNAAF3,DNAAF3 EXON Silent,Missense_G17D,Silent,Missense_G17D exm1507858 19 55678015 [A/G] NM_001256715,NM_178837,NM_001256716,NM_001256714 DNAAF3,DNAAF3,DNAAF3,DNAAF3 EXON Silent,Missense_M1T,Silent,Missense_M1T exm1507869 19 55685931 [T/C] NM_003180 SYT5 EXON Missense_Y305C exm1507870 19 55685954 [C/G] NM_003180 SYT5 EXON Missense_I297M exm1507876 19 55686297 [A/G] NM_003180 SYT5 EXON Missense_V260A exm1507888 19 55686589 [T/C] NM_003180 SYT5 EXON Missense_G220E exm1507890 19 55686641 [A/G] NM_003180 SYT5 EXON Missense_R203C exm1507906 19 55687413 [T/C] NM_003180 SYT5 EXON Missense_R111Q exm1507912 19 55689643 [T/C] NM_003180 SYT5 EXON Missense_R58Q exm1507915 19 55690331 [T/C] NM_003180 SYT5 EXON Missense_V27M exm1951350 19 55690373 [A/G] NM_003180 SYT5 EXON Missense_P13S exm1507930 19 55693244 [T/C] NM_002842,NM_001161440 PTPRH,PTPRH EXON Missense_I1076V,Missense_I898V exm1507931 19 55693262 [T/C] NM_002842,NM_001161440 PTPRH,PTPRH EXON Missense_V1070I,Missense_V892I exm1951358 19 55693406 [G/C] NM_002842,NM_001161440 PTPRH,PTPRH EXON Missense_R1059P,Missense_R881P exm1507937 19 55693440 [C/G] NM_002842,NM_001161440 PTPRH,PTPRH EXON Missense_P1048A,Missense_P870A exm1507939 19 55693469 [T/C] NM_002842,NM_001161440 PTPRH,PTPRH EXON Missense_R1038Q,Missense_R860Q exm1507940 19 55693470 [A/G] NM_002842,NM_001161440 PTPRH,PTPRH EXON Missense_R1038W,Missense_R860W exm2254028 19 55696971 [A/G] NM_002842,NM_001161440 PTPRH,PTPRH EXON Synonymous_H987H,Synonymous_H809H exm1507955 19 55697255 [A/G] NM_002842,NM_001161440 PTPRH,PTPRH EXON Missense_T959M,Missense_T781M exm1507958 19 55697279 [T/C] NM_002842,NM_001161440 PTPRH,PTPRH EXON Missense_G951D,Missense_G773D exm1507960 19 55697301 [A/G] NM_002842,NM_001161440 PTPRH,PTPRH EXON Missense_H944Y,Missense_H766Y exm1507964 19 55697594 [T/C] NM_002842,NM_001161440 PTPRH,PTPRH EXON Missense_R926Q,Missense_R748Q exm1507965 19 55697595 [A/G] NM_002842,NM_001161440 PTPRH,PTPRH EXON Missense_R926W,Missense_R748W exm1507969 19 55697679 [A/G] NM_002842,NM_001161440 PTPRH,PTPRH EXON Nonsense_Q898X,Nonsense_Q720X exm1507972 19 55697712 [A/G] NM_002842,NM_001161440 PTPRH,PTPRH EXON Nonsense_Q887X,Nonsense_Q709X exm1507973 19 55697718 [T/C] NM_002842,NM_001161440 PTPRH,PTPRH EXON Missense_S885G,Missense_S707G exm1507987 19 55698955 [T/C] NM_002842,NM_001161440 PTPRH,PTPRH EXON Missense_G831D,Missense_G653D exm1507989 19 55699454 [T/C] NM_002842,NM_001161440 PTPRH,PTPRH EXON Missense_K823E,Missense_K645E exm1508003 19 55702910 [A/C] NM_002842,NM_001161440 PTPRH,PTPRH EXON Missense_K781N,Missense_K603N exm1508008 19 55703094 [T/G] NM_002842,NM_001161440 PTPRH,PTPRH EXON Missense_A758D,Missense_A580D exm1508018 19 55707952 [A/G] NM_002842,NM_001161440 PTPRH,PTPRH EXON Missense_T732M,Missense_T554M exm1508025 19 55708037 [A/G] NM_002842,NM_001161440 PTPRH,PTPRH EXON Missense_R704W,Missense_R526W exm1951408 19 55708493 [A/G] NM_002842,NM_001161440 PTPRH,PTPRH EXON Missense_A661V,Missense_A483V exm2275122 19 55708563 [T/C] NM_002842,NM_001161440 PTPRH,PTPRH EXON Missense_G638R,Missense_G460R exm1508056 19 55708649 [T/C] NM_002842,NM_001161440 PTPRH,PTPRH EXON Missense_R609Q,Missense_R431Q exm1508065 19 55708716 [T/C] NM_002842,NM_001161440 PTPRH,PTPRH EXON Missense_A587T,Missense_A409T exm1508077 19 55710068 [T/C] NM_002842,NM_001161440 PTPRH,PTPRH EXON Missense_V545I,Missense_V367I exm1508078 19 55710074 [A/G] NM_002842,NM_001161440 PTPRH,PTPRH EXON Missense_L543F,Missense_L365F exm1951423 19 55710248 [T/C] NM_002842,NM_001161440 PTPRH,PTPRH EXON Missense_D485N,Missense_D307N exm1508081 19 55710273 [A/G] NM_002842,NM_001161440 PTPRH,PTPRH EXON Synonymous_N476N,Synonymous_N298N exm1508087 19 55711700 [T/C] NM_002842,NM_001161440 PTPRH,PTPRH EXON Missense_A442T,Missense_A264T exm1508090 19 55711736 [T/C] NM_002842,NM_001161440 PTPRH,PTPRH EXON Missense_T430A,Missense_T252A exm1508094 19 55711796 [T/C] NM_002842,NM_001161440 PTPRH,PTPRH EXON Missense_D410N,Missense_D232N exm1508098 19 55713427 [T/C] NM_002842,NM_001161440 PTPRH,PTPRH EXON Missense_T384A,Missense_T206A exm1951427 19 55713439 [A/G] NM_002842,NM_001161440 PTPRH,PTPRH EXON Nonsense_R380X,Nonsense_R202X exm1508100 19 55713502 [T/C] NM_002842,NM_001161440 PTPRH,PTPRH EXON Missense_G359R,Missense_G181R exm1508105 19 55713535 [A/G] NM_002842,NM_001161440 PTPRH,PTPRH EXON Missense_H348Y,Missense_H170Y exm1508112 19 55713661 [C/G] NM_002842,NM_001161440 PTPRH,PTPRH EXON Missense_E306Q,Missense_E128Q exm1508126 19 55715272 [T/C] NM_002842,NM_001161440 PTPRH,PTPRH EXON Missense_R255Q,Silent exm1508128 19 55715285 [T/C] NM_002842,NM_001161440 PTPRH,PTPRH EXON Missense_R251G,Silent exm2254029 19 55715319 [C/G] NM_002842,NM_001161440 PTPRH,PTPRH EXON Synonymous_S239S,Silent exm1508131 19 55715342 [T/C] NM_002842,NM_001161440 PTPRH,PTPRH EXON Missense_D232N,Silent exm1508132 19 55715359 [A/G] NM_002842,NM_001161440 PTPRH,PTPRH EXON Missense_L226P,Silent exm1508138 19 55716713 [A/C] NM_002842,NM_001161440 PTPRH,PTPRH EXON Missense_E200D,Silent exm1508162 19 55718077 [T/C] NM_002842,NM_001161440 PTPRH,PTPRH EXON Missense_G111E,Missense_G111E exm1508173 19 55718195 [T/C] NM_002842,NM_001161440 PTPRH,PTPRH EXON Missense_G72S,Missense_G72S exm1508177 19 55718224 [T/G] NM_002842,NM_001161440 PTPRH,PTPRH EXON Missense_N62T,Missense_N62T exm1508191 19 55738568 [A/G] NM_173804 TMEM86B EXON Missense_P221L exm1508192 19 55738571 [G/C] NM_173804 TMEM86B EXON Missense_S220T exm1508195 19 55738634 [T/C] NM_173804 TMEM86B EXON Missense_H199R exm1508202 19 55738739 [T/C] NM_173804 TMEM86B EXON Missense_R164H exm1508220 19 55739624 [T/C] NM_173804 TMEM86B EXON Missense_Q78R exm1951467 19 55739703 [T/C] NM_173804 TMEM86B EXON Missense_V52I exm1508233 19 55740069 [A/C] NM_173804 TMEM86B EXON Missense_C14F exm1508234 19 55740103 [T/C] NM_173804 TMEM86B EXON Missense_A3T exm1508236 19 55740109 [T/C] NM_173804 TMEM86B EXON Missense_M1V exm1508248 19 55742176 [T/C] NM_014931 PPP6R1 EXON Missense_S846G exm1508252 19 55742215 [T/C] NM_014931 PPP6R1 EXON Missense_G833R exm1508256 19 55742784 [A/G] NM_014931 PPP6R1 EXON Missense_S818L exm1508258 19 55742803 [A/G] NM_014931 PPP6R1 EXON Missense_R812C exm1508268 19 55743188 [T/C] NM_014931 PPP6R1 EXON Missense_R763H exm1951498 19 55743263 [T/C] NM_014931 PPP6R1 EXON Missense_G738E exm1508281 19 55748011 [T/C] NM_014931 PPP6R1 EXON Missense_R663Q exm1508282 19 55748069 [T/C] NM_014931 PPP6R1 EXON Missense_A644T exm1508287 19 55748152 [T/C] NM_014931 PPP6R1 EXON Missense_R616H exm1508294 19 55748337 [T/C] NM_014931 PPP6R1 EXON Missense_A585T exm1508295 19 55748338 [A/G] NM_014931 PPP6R1 EXON Synonymous_N584N exm1508302 19 55750997 [T/C] NM_014931 PPP6R1 EXON Missense_E540K exm1508308 19 55751205 [T/C] NM_014931 PPP6R1 EXON Missense_M518V exm1508310 19 55751238 [A/C] NM_014931 PPP6R1 EXON Missense_S507A exm1508318 19 55751430 [T/C] NM_014931 PPP6R1 EXON Missense_G472S exm1508321 19 55751610 [T/C] NM_014931 PPP6R1 EXON Missense_R452H exm1508333 19 55752647 [A/G] NM_014931 PPP6R1 EXON Missense_T374M exm1508334 19 55752662 [T/C] NM_014931 PPP6R1 EXON Missense_N369S exm1508344 19 55752885 [T/C] NM_014931 PPP6R1 EXON Missense_R323Q exm1508352 19 55752997 [T/C] NM_014931 PPP6R1 EXON Missense_V286M exm1508355 19 55753536 [A/C] NM_014931 PPP6R1 EXON Synonymous_P281P exm2254031 19 55753536 [A/C] NM_014931 PPP6R1 EXON Synonymous_P281P exm1508365 19 55753614 [T/C] NM_014931 PPP6R1 EXON Missense_M255I exm1951552 19 55756951 [C/G] NM_014931 PPP6R1 EXON Missense_G108A exm1951568 19 55776753 [A/C] NM_001130106,NM_012267 HSPBP1,HSPBP1 EXON Missense_V300L,Missense_V300L exm1508413 19 55777350 [T/C] NM_001130106,NM_012267 HSPBP1,HSPBP1 EXON Missense_G266E,Missense_G266E exm1508416 19 55777571 [A/G] NM_001130106,NM_012267 HSPBP1,HSPBP1 EXON Nonsense_Q242X,Nonsense_Q242X exm1508418 19 55777585 [A/C] NM_001130106,NM_012267 HSPBP1,HSPBP1 EXON Missense_R237M,Missense_R237M exm1508419 19 55777589 [T/C] NM_001130106,NM_012267 HSPBP1,HSPBP1 EXON Missense_M236V,Missense_M236V exm1508424 19 55785793 [A/G] NM_001130106,NM_012267 HSPBP1,HSPBP1 EXON Missense_R205C,Missense_R205C exm1508440 19 55789079 [T/C] NM_001130106,NM_012267 HSPBP1,HSPBP1 EXON Missense_D116N,Missense_D116N exm1508447 19 55789177 [A/G] NM_001130106,NM_012267 HSPBP1,HSPBP1 EXON Missense_F83S,Missense_F83S exm1508468 19 55795920 [A/G] NM_032430 BRSK1 EXON Missense_E37G exm1508482 19 55800916 [T/C] NM_032430 BRSK1 EXON Missense_T129M exm1508542 19 55816895 [A/G] NM_032430 BRSK1 EXON Missense_V611M exm1508545 19 55817644 [G/C] NM_032430 BRSK1 EXON Missense_L639V exm1508557 19 55817817 [T/G] NM_032430 BRSK1 EXON Synonymous_S696S exm-rs1172822 19 55819845 [T/C] NM_032430 BRSK1 Silent exm1508567 19 55823389 [G/C] NM_032430 BRSK1 EXON Missense_P764A exm1508568 19 55823390 [T/C] NM_032430 BRSK1 EXON Missense_P764L exm1508576 19 55824328 [T/C] NM_001085488 TMEM150B EXON Missense_V201I exm1508578 19 55824332 [T/G] NM_001085488 TMEM150B EXON Missense_L199F exm1508580 19 55824376 [T/C] NM_001085488 TMEM150B EXON Missense_E185K exm1508592 19 55831502 [A/G] NM_001085488 TMEM150B EXON Missense_L77F exm1508604 19 55832338 [T/C] NM_001085488 TMEM150B EXON Missense_V23I exm1508605 19 55832347 [T/C] NM_001085488 TMEM150B EXON Missense_V20I exm1508607 19 55832388 [A/G] NM_001085488 TMEM150B EXON Missense_S6L exm1508628 19 55854179 [T/A] NM_032701 SUV420H2 EXON Missense_M116L exm1508636 19 55855167 [A/G] NM_032701 SUV420H2 EXON Missense_R169Q exm1508665 19 55857951 [A/C] NM_032701 SUV420H2 EXON Missense_T264N exm1951688 19 55858325 [T/C] NM_032701 SUV420H2 EXON Synonymous_A299A exm1951690 19 55858647 [T/C] NM_032701 SUV420H2 EXON Missense_R407C exm1508685 19 55858768 [T/G] NM_032701 SUV420H2 EXON Missense_V447G exm1508700 19 55865279 [T/G] NM_144613 COX6B2 EXON Nonsense_C56X exm1508707 19 55865329 [A/G] NM_144613 COX6B2 EXON Missense_H40Y exm1508726 19 55869601 [T/C] NM_001145402 FAM71E2 EXON Missense_M879V exm1508728 19 55869666 [C/G] NM_001145402 FAM71E2 EXON Missense_P857R exm1508736 19 55869892 [T/C] NM_001145402 FAM71E2 EXON Missense_E782K exm1508738 19 55869903 [T/C] NM_001145402 FAM71E2 EXON Missense_Q778R exm1508750 19 55870069 [A/G] NM_001145402 FAM71E2 EXON Missense_L723F exm1508752 19 55870104 [C/G] NM_001145402 FAM71E2 EXON Missense_P711R exm2275123 19 55870188 [A/G] NM_001145402 FAM71E2 EXON Missense_P683L exm1508758 19 55870260 [A/G] NM_001145402 FAM71E2 EXON Missense_P659L exm1508762 19 55870351 [T/C] NM_001145402 FAM71E2 EXON Missense_K629E exm1508763 19 55870379 [A/C] NM_001145402 FAM71E2 EXON Missense_E619D exm1508764 19 55870404 [A/G] NM_001145402 FAM71E2 EXON Missense_S611L exm1508776 19 55870566 [T/C] NM_001145402 FAM71E2 EXON Missense_R557Q exm1508777 19 55870600 [C/G] NM_001145402 FAM71E2 EXON Missense_E546Q exm1508789 19 55870792 [A/C] NM_001145402 FAM71E2 EXON Missense_A482S exm1508791 19 55870804 [A/G] NM_001145402 FAM71E2 EXON Missense_P478S exm1508800 19 55870887 [T/C] NM_001145402 FAM71E2 EXON Missense_R450Q exm1508803 19 55870936 [A/G] NM_001145402 FAM71E2 EXON Missense_P434S exm1508806 19 55871019 [A/G] NM_001145402 FAM71E2 EXON Missense_L406P exm1508813 19 55871205 [A/G] NM_001145402 FAM71E2 EXON Missense_T344M exm1508817 19 55871302 [C/G] NM_001145402 FAM71E2 EXON Missense_V312L exm1508824 19 55872434 [T/G] NM_001145402 FAM71E2 EXON Missense_D231A exm1508826 19 55872461 [T/C] NM_001145402 FAM71E2 EXON Missense_R222H exm1508832 19 55872591 [T/C] NM_001145402 FAM71E2 EXON Missense_R202H exm1508837 19 55873642 [T/C] NM_001145402 FAM71E2 EXON Missense_E179K exm1508841 19 55873726 [A/G] NM_001145402 FAM71E2 EXON Missense_R151C exm1508862 19 55879672 [T/C] NM_001267718,NM_000641 IL11,IL11 EXON Missense_R33H,Missense_R112H exm1508863 19 55879685 [T/C] NM_001267718,NM_000641 IL11,IL11 EXON Missense_V29M,Missense_V108M exm1508867 19 55879711 [A/G] NM_001267718,NM_000641 IL11,IL11 EXON Missense_A20V,Missense_A99V exm1951712 19 55879714 [C/G] NM_001267718,NM_000641 IL11,IL11 EXON Missense_R19P,Missense_R98P exm-rs1126757 19 55879872 [T/C] NM_001267718,NM_000641 IL11,IL11 EXON Synonymous_A3A,Synonymous_A82A exm1508877 19 55880301 [A/G] NM_001267718,NM_000641 IL11,IL11 EXON Silent,Missense_R6C exm1508892 19 55888985 [A/G] NM_139172 TMEM190 EXON Missense_R40Q exm1508898 19 55889085 [T/C] NM_139172 TMEM190 EXON Synonymous_D73D exm1508900 19 55889178 [T/C] NM_139172 TMEM190 EXON Missense_R77W exm1508911 19 55889485 [A/G] NM_139172 TMEM190 EXON Missense_K150E exm1508912 19 55889500 [A/G] NM_139172 TMEM190 EXON Missense_V155M exm1508913 19 55889506 [A/G] NM_139172 TMEM190 EXON Missense_G157R exm1508922 19 55897956 [A/G] NM_001136135,NM_001136136,NM_001136137,NM_000991,NM_001136134 RPL28,RPL28,RPL28,RPL28,RPL28 EXON Missense_A34T,Missense_A34T,Missense_A34T,Missense_A34T,Missense_A34T exm1508929 19 55898046 [A/C] NM_001136135,NM_001136136,NM_001136137,NM_000991,NM_001136134 RPL28,RPL28,RPL28,RPL28,RPL28 EXON Missense_I64L,Missense_I64L,Missense_I64L,Missense_I64L,Missense_I64L exm1508950 19 55899481 [T/C] NM_001136135,NM_000991,NM_001136134 RPL28,RPL28,RPL28 EXON Silent,Silent,Missense_T130I exm1508952 19 55899549 [T/G] NM_001136135,NM_000991,NM_001136134 RPL28,RPL28,RPL28 EXON Silent,Silent,Missense_W153G exm1508961 19 55902941 [A/G] NM_001136135,NM_000991,NM_001136134 RPL28,RPL28,RPL28 EXON Missense_G115E,Silent,Silent exm1508965 19 55903103 [A/C] NM_001136135,NM_000991,NM_001136134 RPL28,RPL28,RPL28 EXON Missense_S169Y,Silent,Silent exm2254034 19 55952023 [T/G] NM_001145176 SHISA7 EXON Synonymous_R261R exm1509026 19 55964723 [G/C] NM_001136202,NM_024710,NM_001136201 ISOC2,ISOC2,ISOC2 EXON Missense_D120E,Missense_D206E,Missense_D190E exm1509043 19 55966709 [A/G] NM_001136202,NM_024710,NM_001136201 ISOC2,ISOC2,ISOC2 EXON Silent,Missense_L129F,Silent exm1509045 19 55966738 [T/C] NM_001136202,NM_024710,NM_001136201 ISOC2,ISOC2,ISOC2 EXON Silent,Missense_R119H,Silent exm1509050 19 55967056 [A/G] NM_001136202,NM_024710,NM_001136201 ISOC2,ISOC2,ISOC2 EXON Silent,Missense_P99S,Missense_P99S exm1509064 19 55967743 [G/C] NM_001136202,NM_024710,NM_001136201 ISOC2,ISOC2,ISOC2 EXON Missense_I37M,Missense_I37M,Missense_I37M exm1509065 19 55967747 [A/T] NM_001136202,NM_024710,NM_001136201 ISOC2,ISOC2,ISOC2 EXON Missense_Q36L,Missense_Q36L,Missense_Q36L exm1509067 19 55967772 [A/G] NM_001136202,NM_024710,NM_001136201 ISOC2,ISOC2,ISOC2 EXON Missense_R28C,Missense_R28C,Missense_R28C exm1951782 19 55967789 [A/T] NM_001136202,NM_024710,NM_001136201 ISOC2,ISOC2,ISOC2 EXON Missense_D22V,Missense_D22V,Missense_D22V exm1509102 19 55993436 [T/G] NM_033113 ZNF628 EXON Missense_E292D exm1509123 19 55993915 [T/G] NM_033113 ZNF628 EXON Missense_R452L exm1509147 19 55994413 [T/C] NM_033113 ZNF628 EXON Missense_A618V exm1509171 19 55995118 [A/C] NM_033113 ZNF628 EXON Missense_T853K exm1509173 19 55995150 [A/G] NM_033113 ZNF628 EXON Missense_T864A exm1509175 19 55995193 [A/G] NM_033113 ZNF628 EXON Missense_S878N exm1509178 19 55995299 [T/G] NM_033113 ZNF628 EXON Missense_E913D exm1509190 19 55995498 [C/G] NM_033113 ZNF628 EXON Missense_A980P exm1509222 19 55998262 [T/C] NM_020378 NAT14 EXON Missense_A187V exm2254035 19 55998281 [T/C] NM_020378 NAT14 EXON Synonymous_C193C exm1509227 19 55998317 [A/C] NM_020378 NAT14 EXON Missense_D205E exm1509241 19 56001026 [A/G] NM_001195267,NM_001144950 SSC5D,SSC5D EXON Missense_A120T,Missense_A120T exm1509244 19 56001665 [T/C] NM_001195267,NM_001144950 SSC5D,SSC5D EXON Missense_A159V,Missense_A159V exm2268210 19 56003777 [A/G] NM_001195267,NM_001144950 SSC5D,SSC5D Silent,Silent exm1509283 19 56009424 [A/G] NM_001195267,NM_001144950 SSC5D,SSC5D EXON Missense_R522H,Missense_R522H exm1509284 19 56009465 [A/G] NM_001195267,NM_001144950 SSC5D,SSC5D EXON Missense_G536S,Missense_G536S exm1509287 19 56011186 [T/C] NM_001195267,NM_001144950 SSC5D,SSC5D EXON Missense_P570L,Missense_P570L exm1509289 19 56011279 [T/C] NM_001195267,NM_001144950 SSC5D,SSC5D EXON Missense_A601V,Missense_A601V exm1509295 19 56011528 [T/C] NM_001195267,NM_001144950 SSC5D,SSC5D EXON Missense_P684L,Missense_P684L exm1509296 19 56011545 [G/C] NM_001195267,NM_001144950 SSC5D,SSC5D EXON Missense_Q690E,Missense_Q690E exm1509297 19 56011569 [A/G] NM_001195267,NM_001144950 SSC5D,SSC5D EXON Missense_A698T,Missense_A698T exm1509298 19 56011573 [T/C] NM_001195267,NM_001144950 SSC5D,SSC5D EXON Missense_T699M,Missense_T699M exm1509301 19 56011741 [T/C] NM_001195267,NM_001144950 SSC5D,SSC5D EXON Missense_P755L,Missense_P755L exm1509304 19 56011880 [A/G] NM_001195267,NM_001144950 SSC5D,SSC5D EXON Missense_D776N,Missense_D776N exm1509311 19 56012112 [T/C] NM_001195267,NM_001144950 SSC5D,SSC5D EXON Missense_S853L,Missense_S853L exm1509313 19 56012424 [C/G] NM_001195267,NM_001144950 SSC5D,SSC5D EXON Missense_P881A,Missense_P881A exm1509315 19 56012441 [A/C] NM_001195267,NM_001144950 SSC5D,SSC5D EXON Missense_D886E,Missense_D886E exm1509322 19 56024519 [T/C] NM_001144950 SSC5D EXON Missense_L976P exm1509331 19 56029167 [A/T] NM_001144950 SSC5D EXON Missense_F1175Y exm1509365 19 56029631 [T/C] NM_001144950 SSC5D EXON Missense_P1330S exm1509382 19 56030250 [A/G] NM_001144950 SSC5D EXON Missense_G1536E exm1509393 19 56041171 [G/C] NM_001101401 SBK2 EXON Missense_G326R exm1509420 19 56042517 [T/C] NM_001101401 SBK2 EXON Missense_Q150R exm1509428 19 56042644 [A/G] NM_001101401 SBK2 EXON Missense_C108R exm1509429 19 56042661 [T/C] NM_001101401 SBK2 EXON Missense_G102D exm1509440 19 56047439 [A/G] NM_001101401 SBK2 EXON Missense_R75C exm1509441 19 56047448 [A/G] NM_001101401 SBK2 EXON Missense_C72R exm1509444 19 56047475 [T/C] NM_001101401 SBK2 EXON Missense_E63K exm1509448 19 56047522 [A/G] NM_001101401 SBK2 EXON Missense_T47M exm1509449 19 56047540 [A/G] NM_001101401 SBK2 EXON Missense_A41V exm1509458 19 56052282 [T/C] NM_001199824 SGK110 EXON Missense_R337K exm1509460 19 56052400 [T/G] NM_001199824 SGK110 EXON Missense_L298M exm1509465 19 56055578 [A/G] NM_001199824 SGK110 EXON Missense_A96V exm1509468 19 56056257 [C/G] NM_001199824 SGK110 EXON Missense_P35R exm1509470 19 56056865 [T/C] NM_001199824 SGK110 EXON Synonymous_E15E exm1509481 19 56089420 [G/C] NM_152600 ZNF579 EXON Missense_S529T exm1509593 19 56113548 [T/C] NM_153219 ZNF524 EXON Missense_S24P exm1509606 19 56113848 [T/C] NM_153219 ZNF524 EXON Missense_P124S exm1509634 19 56133298 [T/G] NM_203374 ZNF784 EXON Missense_S264Y exm1509635 19 56133299 [T/A] NM_203374 ZNF784 EXON Missense_S264T exm1509664 19 56135850 [T/C] NM_203374 ZNF784 EXON Synonymous_L26L exm1509672 19 56135906 [T/C] NM_203374 ZNF784 EXON Missense_A8T exm1509696 19 56156001 [A/G] NM_016535 ZNF581 EXON Missense_G22S exm1509699 19 56156032 [A/C] NM_016535 ZNF581 EXON Missense_E32A exm1509702 19 56156086 [T/C] NM_016535 ZNF581 EXON Missense_P50L exm1509724 19 56160641 [T/C] NM_013301 CCDC106 EXON Synonymous_F34F exm2254037 19 56160641 [T/C] NM_013301 CCDC106 EXON Synonymous_F34F exm1509733 19 56160797 [A/G] NM_013301 CCDC106 EXON Missense_A54T exm1509734 19 56160801 [T/C] NM_013301 CCDC106 EXON Missense_L55P exm1509735 19 56160804 [T/C] NM_013301 CCDC106 EXON Missense_A56V exm1509743 19 56162756 [A/G] NM_013301 CCDC106 EXON Missense_G141R exm1509746 19 56162765 [A/G] NM_013301 CCDC106 EXON Missense_E144K exm1509843 19 56188968 [A/C] NM_001130072,NM_013333,NM_001130071 EPN1,EPN1,EPN1 EXON Silent,Silent,Missense_S34R exm1509845 19 56188971 [A/G] NM_001130072,NM_013333,NM_001130071 EPN1,EPN1,EPN1 EXON Silent,Silent,Missense_E35K exm1509846 19 56188985 [C/G] NM_001130072,NM_013333,NM_001130071 EPN1,EPN1,EPN1 EXON Silent,Silent,Missense_H39Q exm1509853 19 56189931 [A/G] NM_001130072,NM_013333,NM_001130071 EPN1,EPN1,EPN1 EXON Silent,Silent,Missense_G91R exm1509877 19 56197009 [T/C] NM_001130072,NM_013333,NM_001130071 EPN1,EPN1,EPN1 EXON Missense_T159M,Missense_T159M,Missense_T270M exm1509885 19 56200667 [T/C] NM_001130072,NM_013333,NM_001130071 EPN1,EPN1,EPN1 EXON Missense_P203L,Silent,Silent exm1509896 19 56203144 [A/G] NM_001130072,NM_013333,NM_001130071 EPN1,EPN1,EPN1 EXON Missense_V263I,Missense_V238I,Missense_V349I exm1509897 19 56203169 [T/C] NM_001130072,NM_013333,NM_001130071 EPN1,EPN1,EPN1 EXON Missense_P271L,Missense_P246L,Missense_P357L exm1509926 19 56204331 [A/G] NM_001130072,NM_013333,NM_001130071 EPN1,EPN1,EPN1 EXON Missense_D398N,Missense_D372N,Missense_D484N exm1509927 19 56204335 [T/C] NM_001130072,NM_013333,NM_001130071 EPN1,EPN1,EPN1 EXON Missense_T399M,Missense_T373M,Missense_T485M exm1509930 19 56204350 [T/C] NM_001130072,NM_013333,NM_001130071 EPN1,EPN1,EPN1 EXON Missense_F404S,Missense_F378S,Missense_F490S exm2276682 19 56204365 [A/G] NM_001130072,NM_013333,NM_001130071 EPN1,EPN1,EPN1 EXON Missense_R409Q,Missense_R383Q,Missense_R495Q exm1509936 19 56204400 [A/G] NM_001130072,NM_013333,NM_001130071 EPN1,EPN1,EPN1 EXON Missense_A421T,Missense_A395T,Missense_A507T exm1509983 19 56223314 [A/G] NM_176820 NLRP9 EXON Missense_R899C exm1509993 19 56223885 [A/G] NM_176820 NLRP9 EXON Missense_L858P exm1509998 19 56226420 [T/C] NM_176820 NLRP9 Silent exm1510001 19 56226457 [A/G] NM_176820 NLRP9 EXON Missense_A822V exm1510002 19 56226499 [C/G] NM_176820 NLRP9 EXON Nonsense_S808X exm1510005 19 56226591 [T/C] NM_176820 NLRP9 EXON Missense_M777I exm1510007 19 56228104 [T/C] NM_176820 NLRP9 EXON Missense_E774K exm1510009 19 56228131 [T/C] NM_176820 NLRP9 EXON Missense_A765T exm1510018 19 56235368 [T/C] NM_176820 NLRP9 EXON Missense_M713V exm1510020 19 56235382 [A/G] NM_176820 NLRP9 EXON Missense_T708M exm1510031 19 56241305 [T/C] NM_176820 NLRP9 EXON Missense_N629S exm1510032 19 56241312 [T/C] NM_176820 NLRP9 EXON Missense_I627V exm1510036 19 56241342 [T/C] NM_176820 NLRP9 EXON Missense_V617I exm1510037 19 56241353 [T/C] NM_176820 NLRP9 EXON Missense_N613S exm1510042 19 56243435 [A/G] NM_176820 NLRP9 EXON Missense_C588R exm1510045 19 56243505 [T/G] NM_176820 NLRP9 EXON Missense_F564L exm1952043 19 56243576 [G/C] NM_176820 NLRP9 EXON Missense_A541P exm1510050 19 56243611 [A/C] NM_176820 NLRP9 EXON Missense_S529I exm1510063 19 56243929 [A/G] NM_176820 NLRP9 EXON Missense_S423F exm2230193 19 56244088 [G/C] NM_176820 NLRP9 EXON Missense_S370C exm1510068 19 56244203 [T/A] NM_176820 NLRP9 EXON Missense_I332F exm1510099 19 56249486 [A/C] NM_176820 NLRP9 EXON Missense_W85C exm1510103 19 56249592 [T/G] NM_176820 NLRP9 EXON Missense_A50D exm1510104 19 56249615 [G/C] NM_176820 NLRP9 EXON Missense_I42M exm1510106 19 56249649 [T/G] NM_176820 NLRP9 EXON Missense_K31T exm1510132 19 56297019 [A/G] NM_145007 NLRP11 EXON Missense_S1025L exm1510133 19 56297022 [A/G] NM_145007 NLRP11 EXON Missense_T1024M exm1510135 19 56297034 [A/G] NM_145007 NLRP11 EXON Missense_A1020V exm1510138 19 56297164 [T/G] NM_145007 NLRP11 EXON Missense_I977L exm1510152 19 56300244 [A/G] NM_145007 NLRP11 EXON Synonymous_H928H exm2254038 19 56300244 [A/G] NM_145007 NLRP11 EXON Synonymous_H928H exm1510153 19 56300264 [T/G] NM_145007 NLRP11 EXON Missense_L922I exm1510155 19 56300308 [T/C] NM_145007 NLRP11 EXON Missense_R907Q exm1510164 19 56300673 [T/C] NM_145007 NLRP11 EXON Missense_S869N exm1510175 19 56303789 [T/A] NM_145007 NLRP11 EXON Missense_R797S exm1510176 19 56303800 [T/C] NM_145007 NLRP11 EXON Missense_A794T exm1510177 19 56303806 [A/C] NM_145007 NLRP11 EXON Missense_C792G exm1510179 19 56307467 [T/C] NM_145007 NLRP11 EXON Missense_N774S exm1510191 19 56307588 [T/C] NM_145007 NLRP11 EXON Missense_E734K exm1510192 19 56307597 [A/G] NM_145007 NLRP11 EXON Nonsense_R731X exm1510193 19 56307600 [A/C] NM_145007 NLRP11 EXON Missense_L730V exm1510201 19 56313049 [T/C] NM_145007 NLRP11 EXON Missense_R687H exm-rs299175 19 56313528 [A/G] NM_145007 NLRP11 Silent exm1510225 19 56320376 [A/G] NM_145007 NLRP11 EXON Missense_R534C exm1510247 19 56320813 [T/C] NM_145007 NLRP11 EXON Missense_Q388R exm1510248 19 56320816 [T/C] NM_145007 NLRP11 EXON Missense_N387S exm1510252 19 56320924 [T/C] NM_145007 NLRP11 EXON Missense_R351Q exm1510255 19 56320994 [T/C] NM_145007 NLRP11 EXON Missense_E328K exm1510266 19 56321180 [T/C] NM_145007 NLRP11 EXON Missense_K266E exm1510268 19 56321279 [T/C] NM_145007 NLRP11 EXON Missense_N233D exm1510278 19 56321409 [T/G] NM_145007 NLRP11 EXON Missense_H189Q exm1510280 19 56321414 [A/C] NM_145007 NLRP11 EXON Missense_A188S exm1510284 19 56321456 [T/C] NM_145007 NLRP11 EXON Missense_E174K exm1510288 19 56321556 [C/G] NM_145007 NLRP11 EXON Missense_S140R exm1510289 19 56321569 [T/C] NM_145007 NLRP11 EXON Missense_Y136C exm1510306 19 56329447 [A/G] NM_145007 NLRP11 EXON Missense_R32C exm1510319 19 56369040 [G/C] NM_134444 NLRP4 EXON Missense_G94A exm1510321 19 56369085 [A/G] NM_134444 NLRP4 EXON Missense_R109H exm1510326 19 56369143 [T/G] NM_134444 NLRP4 EXON Missense_K128N exm1510327 19 56369189 [A/G] NM_134444 NLRP4 EXON Missense_A144T exm1510330 19 56369244 [T/C] NM_134444 NLRP4 EXON Missense_T162M exm2254039 19 56369314 [A/G] NM_134444 NLRP4 EXON Synonymous_T185T exm1510340 19 56369394 [T/C] NM_134444 NLRP4 EXON Missense_P212L exm1510342 19 56369405 [A/G] NM_134444 NLRP4 EXON Missense_I216V exm2254040 19 56369668 [T/C] NM_134444 NLRP4 EXON Synonymous_N303N exm1510364 19 56369668 [T/C] NM_134444 NLRP4 EXON Synonymous_N303N exm1510372 19 56369778 [T/G] NM_134444 NLRP4 EXON Missense_I340S exm1510378 19 56369908 [C/G] NM_134444 NLRP4 EXON Missense_E383D exm1510386 19 56370017 [T/C] NM_134444 NLRP4 EXON Missense_R420W exm1510388 19 56370038 [A/G] NM_134444 NLRP4 EXON Missense_A427T exm1510389 19 56370047 [T/C] NM_134444 NLRP4 EXON Missense_P430S exm1510390 19 56370051 [T/C] NM_134444 NLRP4 EXON Missense_A431V exm1510395 19 56370116 [A/G] NM_134444 NLRP4 EXON Missense_V453M exm1510398 19 56370140 [T/G] NM_134444 NLRP4 EXON Missense_A461S exm1510402 19 56370215 [C/G] NM_134444 NLRP4 EXON Missense_A486P exm1510403 19 56370230 [A/G] NM_134444 NLRP4 EXON Missense_A491T exm1952134 19 56370549 [A/C] NM_134444 NLRP4 EXON Missense_S597Y exm1510417 19 56370608 [A/G] NM_134444 NLRP4 EXON Missense_S617G exm2272805 19 56372705 [T/C] NM_134444 NLRP4 Silent exm1510423 19 56372777 [T/C] NM_134444 NLRP4 EXON Missense_H628Y exm1510426 19 56372807 [A/G] NM_134444 NLRP4 EXON Missense_G638R exm1510431 19 56372871 [A/G] NM_134444 NLRP4 EXON Missense_C659Y exm1510440 19 56373462 [A/G] NM_134444 NLRP4 EXON Missense_R708H exm1510442 19 56373488 [A/G] NM_134444 NLRP4 EXON Missense_A717T exm1510443 19 56373512 [A/G] NM_134444 NLRP4 EXON Missense_V725I exm1510444 19 56373525 [T/C] NM_134444 NLRP4 EXON Missense_A729V exm1510448 19 56379088 [T/C] NM_134444 NLRP4 EXON Missense_H734Y exm1510451 19 56379178 [C/G] NM_134444 NLRP4 EXON Missense_D764H exm1510461 19 56382233 [A/G] NM_134444 NLRP4 EXON Missense_I799V exm1510463 19 56382252 [A/G] NM_134444 NLRP4 EXON Missense_R805H exm1510470 19 56382311 [A/C] NM_134444 NLRP4 EXON Missense_K825Q exm1510474 19 56382364 [A/G] NM_134444 NLRP4 Silent exm1510475 19 56388411 [A/G] NM_134444 NLRP4 EXON Missense_A859T exm1510493 19 56390237 [T/A] NM_134444 NLRP4 EXON Missense_Q925L exm2230200 19 56407347 [C/G] NM_176810 NLRP13 EXON Missense_L1032F exm1510507 19 56407433 [A/G] NM_176810 NLRP13 EXON Missense_L1004F exm1510511 19 56407473 [T/G] NM_176810 NLRP13 EXON Nonsense_C990X exm1510512 19 56407485 [T/C] NM_176810 NLRP13 EXON Synonymous_G986G exm1510521 19 56410233 [T/C] NM_176810 NLRP13 EXON Missense_V954M exm1510527 19 56413402 [T/G] NM_176810 NLRP13 EXON Missense_N930H exm1510533 19 56413557 [T/C] NM_176810 NLRP13 EXON Missense_Q878R exm1510540 19 56416347 [A/G] NM_176810 NLRP13 EXON Missense_A860V exm1510549 19 56419263 [T/C] NM_176810 NLRP13 EXON Missense_N781S exm1510562 19 56422049 [A/G] NM_176810 NLRP13 EXON Missense_T721M exm1510573 19 56423137 [T/G] NM_176810 NLRP13 EXON Missense_K682N exm1510590 19 56423579 [A/G] NM_176810 NLRP13 EXON Missense_T535I exm1510591 19 56423597 [A/C] NM_176810 NLRP13 EXON Missense_G529V exm1510592 19 56423626 [C/G] NM_176810 NLRP13 EXON Missense_F519L exm1510594 19 56423645 [A/G] NM_176810 NLRP13 EXON Missense_I513T exm1510598 19 56423690 [A/G] NM_176810 NLRP13 EXON Missense_F498S exm-IND19-61115736 19 56423925 [I/D] NM_176810 NLRP13 EXON exm1510618 19 56424008 [T/C] NM_176810 NLRP13 EXON Missense_R392Q exm1510628 19 56424219 [A/G] NM_176810 NLRP13 EXON Missense_R322C exm1510633 19 56424305 [T/C] NM_176810 NLRP13 EXON Missense_D293G exm1510635 19 56424323 [A/C] NM_176810 NLRP13 EXON Missense_L287W exm1510643 19 56424395 [A/G] NM_176810 NLRP13 EXON Missense_S263F exm1510645 19 56424443 [T/C] NM_176810 NLRP13 EXON Missense_Q247R exm1510647 19 56424467 [A/G] NM_176810 NLRP13 EXON Missense_V239A exm1510656 19 56424569 [T/C] NM_176810 NLRP13 EXON Missense_R205H exm1510659 19 56424585 [T/C] NM_176810 NLRP13 EXON Missense_D200N exm1510664 19 56435307 [T/C] NM_176810 NLRP13 EXON Missense_E166K exm1510670 19 56435974 [T/C] NM_176810 NLRP13 EXON Missense_E147K exm1952225 19 56436357 [G/C] NM_176810 NLRP13 EXON Missense_L122V exm1510677 19 56443368 [T/C] NM_176810 NLRP13 EXON Missense_E104K exm1510690 19 56443601 [T/C] NM_176810 NLRP13 EXON Missense_Q26R exm1510697 19 56459302 [A/C] NM_176811 NLRP8 EXON Missense_I12L exm1510699 19 56459342 [T/C] NM_176811 NLRP8 EXON Missense_P25L exm1510703 19 56459410 [A/G] NM_176811 NLRP8 EXON Missense_V48M exm1510706 19 56459432 [A/G] NM_176811 NLRP8 EXON Missense_R55Q exm1510709 19 56459458 [T/C] NM_176811 NLRP8 EXON Missense_L64F exm1510711 19 56459492 [A/G] NM_176811 NLRP8 EXON Missense_Q75R exm1510724 19 56463913 [G/C] NM_176811 NLRP8 EXON Missense_P126R exm1952241 19 56463924 [A/C] NM_176811 NLRP8 EXON Missense_P130T exm1510726 19 56463940 [T/G] NM_176811 NLRP8 EXON Missense_V135G exm1952242 19 56465888 [T/C] NM_176811 NLRP8 EXON Missense_S155L exm1510735 19 56466010 [T/A] NM_176811 NLRP8 EXON Nonsense_K196X exm1510741 19 56466124 [A/G] NM_176811 NLRP8 EXON Missense_A234T exm1510743 19 56466131 [A/G] NM_176811 NLRP8 EXON Missense_K236R exm1510744 19 56466133 [T/C] NM_176811 NLRP8 EXON Missense_R237C exm1510745 19 56466134 [A/G] NM_176811 NLRP8 EXON Missense_R237H exm1510748 19 56466196 [A/G] NM_176811 NLRP8 EXON Missense_E258K exm1510749 19 56466227 [A/G] NM_176811 NLRP8 EXON Missense_Q268R exm1510750 19 56466235 [A/G] NM_176811 NLRP8 EXON Missense_V271M exm1510754 19 56466346 [G/C] NM_176811 NLRP8 EXON Missense_Q308E exm1510761 19 56466523 [G/C] NM_176811 NLRP8 EXON Missense_Q367E exm1952249 19 56466574 [A/G] NM_176811 NLRP8 EXON Missense_M384V exm1510765 19 56466631 [T/C] NM_176811 NLRP8 EXON Missense_C403R exm1510769 19 56466710 [A/G] NM_176811 NLRP8 EXON Missense_R429Q exm1510785 19 56467001 [A/G] NM_176811 NLRP8 EXON Missense_R526K exm1510787 19 56467052 [T/C] NM_176811 NLRP8 EXON Missense_A543V exm1510788 19 56467076 [A/C] NM_176811 NLRP8 EXON Missense_Y551S exm1510794 19 56467135 [A/G] NM_176811 NLRP8 EXON Missense_V571M exm1510799 19 56467274 [A/G] NM_176811 NLRP8 EXON Missense_R617Q exm1510806 19 56467375 [T/C] NM_176811 NLRP8 EXON Missense_R651W exm1510811 19 56467465 [A/G] NM_176811 NLRP8 EXON Missense_E681K exm1510814 19 56473458 [T/C] NM_176811 NLRP8 EXON Missense_R690C exm1952267 19 56473560 [A/G] NM_176811 NLRP8 EXON Missense_A724T exm1510820 19 56473561 [A/C] NM_176811 NLRP8 EXON Missense_A724E exm1510821 19 56473566 [A/G] NM_176811 NLRP8 EXON Missense_A726T exm1510825 19 56477587 [A/G] NM_176811 NLRP8 EXON Missense_R741H exm1510826 19 56477621 [C/G] NM_176811 NLRP8 EXON Missense_I752M exm1510828 19 56477697 [A/C] NM_176811 NLRP8 EXON Missense_L778I exm1510830 19 56477710 [T/C] NM_176811 NLRP8 EXON Missense_V782A exm1510834 19 56477731 [A/G] NM_176811 NLRP8 EXON Missense_R789H exm1510838 19 56482026 [T/C] NM_176811 NLRP8 EXON Missense_A833V exm1510842 19 56482063 [A/G] NM_176811 NLRP8 Silent exm1510848 19 56485077 [A/G] NM_176811 NLRP8 EXON Missense_Q865R exm1510850 19 56485114 [A/C] NM_176811 NLRP8 EXON Missense_N877K exm1510851 19 56485158 [T/C] NM_176811 NLRP8 EXON Missense_P892L exm1510859 19 56487603 [A/G] NM_176811 NLRP8 EXON Missense_K937R exm1510860 19 56487619 [C/G] NM_176811 NLRP8 EXON Missense_I942M exm1510869 19 56490858 [A/C] NM_176811 NLRP8 EXON Missense_A992E exm1510880 19 56499279 [C/G] NM_176811 NLRP8 EXON Missense_X1049Y exm1510893 19 56515090 [T/C] NM_153447 NLRP5 EXON Missense_T24I exm1510899 19 56515228 [A/G] NM_153447 NLRP5 EXON Missense_Y70C exm1510901 19 56515319 [A/C] NM_153447 NLRP5 EXON Missense_E100D exm1510906 19 56515359 [A/C] NM_153447 NLRP5 EXON Missense_H114N exm1510908 19 56515426 [A/G] NM_153447 NLRP5 EXON Missense_R136Q exm1952303 19 56515446 [T/C] NM_153447 NLRP5 EXON Missense_R143W exm1510931 19 56538389 [G/C] NM_153447 NLRP5 EXON Missense_Q264E exm1510934 19 56538438 [A/G] NM_153447 NLRP5 EXON Missense_R280H exm1510935 19 56538441 [T/C] NM_153447 NLRP5 EXON Missense_T281M exm1952319 19 56538513 [A/G] NM_153447 NLRP5 EXON Missense_Q305R exm1510943 19 56538576 [A/G] NM_153447 NLRP5 EXON Missense_R326Q exm1510951 19 56538657 [A/G] NM_153447 NLRP5 EXON Missense_R353Q exm1510952 19 56538665 [A/G] NM_153447 NLRP5 EXON Missense_R356G exm1952324 19 56538710 [T/C] NM_153447 NLRP5 EXON Missense_L371F exm1510956 19 56538773 [T/C] NM_153447 NLRP5 EXON Missense_R392C exm1510959 19 56538818 [A/G] NM_153447 NLRP5 EXON Missense_V407I exm1510964 19 56538846 [A/G] NM_153447 NLRP5 EXON Missense_K416R exm1510969 19 56538920 [T/C] NM_153447 NLRP5 EXON Missense_L441F exm1510973 19 56538966 [A/G] NM_153447 NLRP5 EXON Missense_R456H exm1510975 19 56538976 [G/C] NM_153447 NLRP5 EXON Missense_M459I exm1510977 19 56538984 [A/G] NM_153447 NLRP5 EXON Missense_R462H exm1510978 19 56539013 [A/G] NM_153447 NLRP5 EXON Missense_A472T exm1510985 19 56539131 [T/C] NM_153447 NLRP5 EXON Missense_T511I exm1510986 19 56539142 [A/G] NM_153447 NLRP5 EXON Missense_V515M exm1510987 19 56539149 [A/G] NM_153447 NLRP5 EXON Missense_R517Q exm1510988 19 56539154 [T/C] NM_153447 NLRP5 EXON Missense_C519R exm1510990 19 56539187 [T/C] NM_153447 NLRP5 EXON Missense_R530C exm1510992 19 56539199 [A/G] NM_153447 NLRP5 EXON Missense_M534V exm1510993 19 56539224 [A/G] NM_153447 NLRP5 EXON Missense_R542K exm1510996 19 56539256 [A/G] NM_153447 NLRP5 EXON Missense_V553I exm1511003 19 56539356 [C/G] NM_153447 NLRP5 EXON Missense_S586T exm1511004 19 56539388 [A/G] NM_153447 NLRP5 EXON Missense_V597M exm1511017 19 56539566 [A/C] NM_153447 NLRP5 EXON Missense_P656H exm1511020 19 56539619 [A/C] NM_153447 NLRP5 EXON Missense_Q674K exm1511038 19 56539847 [A/G] NM_153447 NLRP5 EXON Missense_A750T exm1511039 19 56543981 [T/C] NM_153447 NLRP5 EXON Missense_R761W exm1511040 19 56543982 [T/G] NM_153447 NLRP5 EXON Missense_R761L exm1511044 19 56544050 [T/C] NM_153447 NLRP5 EXON Missense_R784W exm1511045 19 56544053 [T/C] NM_153447 NLRP5 EXON Nonsense_Q785X exm1511053 19 56545032 [T/C] NM_153447 NLRP5 EXON Missense_C858R exm1511055 19 56545065 [T/G] NM_153447 NLRP5 EXON Nonsense_E869X exm1511058 19 56549510 [T/C] NM_153447 NLRP5 EXON Missense_M912T exm1952364 19 56552419 [A/G] NM_153447 NLRP5 EXON Missense_R973Q exm1511071 19 56552458 [T/C] NM_153447 NLRP5 EXON Missense_M986T exm1511078 19 56561834 [T/C] NM_153447 NLRP5 EXON Missense_A1003V exm1511080 19 56561858 [T/C] NM_153447 NLRP5 EXON Missense_T1011M exm1511094 19 56565093 [T/C] NM_153447 NLRP5 EXON Missense_T1073M exm1511097 19 56565113 [A/G] NM_153447 NLRP5 EXON Missense_G1080S exm1952379 19 56569673 [T/C] NM_153447 NLRP5 EXON Missense_H1123Y exm1511111 19 56569709 [A/G] NM_153447 NLRP5 EXON Missense_S1135G exm1511113 19 56569737 [T/C] NM_153447 NLRP5 EXON Missense_S1144L exm1511120 19 56572829 [T/C] NM_153447 NLRP5 EXON Nonsense_R1180X exm1511121 19 56572832 [A/G] NM_153447 NLRP5 EXON Missense_V1181I exm1511123 19 56572844 [A/G] NM_153447 NLRP5 EXON Missense_G1185S exm1511168 19 56600442 [A/C] NM_001002836 ZNF787 EXON Missense_D33E exm2260887 19 56626448 [A/C] NM_001002836 ZNF787 Silent exm1511187 19 56669884 [A/G] NM_001253792,NM_018337 ZNF444,ZNF444 EXON Missense_G107R,Missense_G107R exm1511204 19 56671359 [C/G] NM_001253792,NM_018337 ZNF444,ZNF444 EXON Missense_T257S,Missense_T258S exm1511206 19 56671373 [A/G] NM_001253792,NM_018337 ZNF444,ZNF444 EXON Missense_E262K,Missense_E263K exm1511209 19 56671392 [A/G] NM_001253792,NM_018337 ZNF444,ZNF444 EXON Missense_R268H,Missense_R269H exm1511238 19 56693562 [T/G] NM_033106,NM_001145546 GALP,GALP EXON Missense_G53V,Missense_V37L exm1511239 19 56693569 [A/C] NM_033106,NM_001145546 GALP,GALP EXON Missense_Q55H,Missense_K39T exm1511240 19 56693620 [C/G] NM_033106,NM_001145546 GALP,GALP EXON Missense_I72M,Silent exm1511244 19 56694505 [T/C] NM_033106,NM_001145546 GALP,GALP EXON Synonymous_D73D,Silent exm1511246 19 56694509 [T/C] NM_033106,NM_001145546 GALP,GALP EXON Missense_L75F,Silent exm1511255 19 56701233 [T/C] NM_001080456 ZSCAN5B EXON Missense_R484H exm1511261 19 56701348 [T/C] NM_001080456 ZSCAN5B EXON Missense_K446E exm1511269 19 56701428 [T/C] NM_001080456 ZSCAN5B EXON Missense_R419Q exm1511270 19 56701429 [A/G] NM_001080456 ZSCAN5B EXON Missense_R419W exm1511274 19 56701450 [T/G] NM_001080456 ZSCAN5B EXON Missense_M412L exm1511275 19 56701488 [T/C] NM_001080456 ZSCAN5B EXON Missense_R399Q exm1511279 19 56701578 [A/T] NM_001080456 ZSCAN5B EXON Missense_Q369L exm1511286 19 56701647 [A/C] NM_001080456 ZSCAN5B EXON Missense_G346V exm1511311 19 56701912 [A/G] NM_001080456 ZSCAN5B EXON Nonsense_Q258X exm1511312 19 56701928 [A/C] NM_001080456 ZSCAN5B EXON Missense_K252N exm1511321 19 56703248 [A/G] NM_001080456 ZSCAN5B EXON Missense_P187S exm1511323 19 56703271 [A/G] NM_001080456 ZSCAN5B EXON Missense_A179V exm1511325 19 56703289 [T/C] NM_001080456 ZSCAN5B EXON Missense_H173R exm1511327 19 56703334 [A/G] NM_001080456 ZSCAN5B EXON Missense_P158L exm1511330 19 56703371 [T/C] NM_001080456 ZSCAN5B EXON Missense_E146K exm1511332 19 56703413 [A/T] NM_001080456 ZSCAN5B EXON Missense_N132Y exm1511337 19 56704261 [T/C] NM_001080456 ZSCAN5B EXON Missense_E54G exm1511344 19 56732947 [C/G] NM_024303 ZSCAN5A EXON Missense_Q496H exm1511345 19 56732954 [A/G] NM_024303 ZSCAN5A EXON Missense_T494I exm1511347 19 56732982 [A/G] NM_024303 ZSCAN5A EXON Missense_R485C exm1511362 19 56733294 [T/C] NM_024303 ZSCAN5A EXON Missense_E381K exm1511365 19 56733374 [A/G] NM_024303 ZSCAN5A EXON Missense_P354L exm1511368 19 56733381 [T/C] NM_024303 ZSCAN5A EXON Missense_A352T exm1511373 19 56733425 [A/C] NM_024303 ZSCAN5A EXON Missense_G337V exm1511377 19 56733469 [T/G] NM_024303 ZSCAN5A EXON Missense_R322S exm1511391 19 56733662 [A/G] NM_024303 ZSCAN5A EXON Missense_P258L exm1511414 19 56735086 [A/C] NM_024303 ZSCAN5A EXON Missense_S168A exm1511415 19 56735095 [A/G] NM_024303 ZSCAN5A EXON Missense_R165W exm1511420 19 56735119 [A/C] NM_024303 ZSCAN5A EXON Missense_D157Y exm2276685 19 56735153 [A/G] NM_024303 ZSCAN5A EXON Synonymous_I145I exm1511435 19 56736256 [T/C] NM_024303 ZSCAN5A EXON Missense_K54E exm1511438 19 56736269 [T/C] NM_024303 ZSCAN5A EXON Missense_M49I exm2272806 19 56822413 [T/C] exm2230223 19 56895344 [A/G] NM_144690 ZNF582 EXON Missense_I481T exm1511459 19 56895387 [T/C] NM_144690 ZNF582 EXON Missense_V467I exm1511492 19 56896114 [A/C] NM_144690 ZNF582 EXON Missense_K224N exm1511509 19 56901457 [T/C] NM_144690 ZNF582 EXON Missense_V49I exm1511510 19 56901743 [A/C] NM_144690 ZNF582 Silent exm1511526 19 56925417 [A/C] NM_001159860,NM_152478,NM_001159861 ZNF583,ZNF583,ZNF583 EXON Missense_K33N,Missense_K33N,Missense_K33N exm1511535 19 56934311 [A/T] NM_001159860,NM_152478,NM_001159861 ZNF583,ZNF583,ZNF583 EXON Missense_Y95F,Missense_Y95F,Missense_Y95F exm1511542 19 56934608 [A/G] NM_001159860,NM_152478,NM_001159861 ZNF583,ZNF583,ZNF583 EXON Missense_R194Q,Missense_R194Q,Missense_R194Q exm1511551 19 56934915 [A/T] NM_001159860,NM_152478,NM_001159861 ZNF583,ZNF583,ZNF583 EXON Nonsense_Y296X,Nonsense_Y296X,Nonsense_Y296X exm1511569 19 56935657 [A/G] NM_001159860,NM_152478,NM_001159861 ZNF583,ZNF583,ZNF583 EXON Missense_M544V,Missense_M544V,Missense_M544V exm1511572 19 56952535 [A/G] NM_022103,NR_030740 ZNF667,ZNF667 EXON Missense_A610V,Silent exm1511579 19 56952683 [T/C] NM_022103,NR_030740 ZNF667,ZNF667 EXON Missense_G561R,Silent exm1511592 19 56953108 [T/C] NM_022103,NR_030740 ZNF667,ZNF667 EXON Missense_E419G,Silent exm1511605 19 56953429 [A/G] NM_022103,NR_030740 ZNF667,ZNF667 EXON Missense_A312V,Silent exm1511607 19 56953462 [A/C] NM_022103,NR_030740 ZNF667,ZNF667 EXON Missense_R301I,Silent exm1511608 19 56953511 [T/C] NM_022103,NR_030740 ZNF667,ZNF667 EXON Missense_K285E,Silent exm1511609 19 56953577 [T/C] NM_022103,NR_030740 ZNF667,ZNF667 EXON Missense_N263D,Silent exm1511610 19 56953585 [T/C] NM_022103,NR_030740 ZNF667,ZNF667 EXON Missense_K260R,Silent exm1511615 19 56953642 [T/C] NM_022103,NR_030740 ZNF667,ZNF667 EXON Missense_N241S,Silent exm1511623 19 56953837 [T/G] NM_022103,NR_030740 ZNF667,ZNF667 EXON Missense_N176T,Silent exm1511625 19 56953861 [T/C] NM_022103,NR_030740 ZNF667,ZNF667 EXON Missense_G168E,Silent exm1511627 19 56953932 [T/G] NM_022103,NR_030740 ZNF667,ZNF667 EXON Missense_L144F,Silent exm1511629 19 56953963 [A/G] NM_022103,NR_030740 ZNF667,ZNF667 EXON Missense_P134L,Silent exm1511633 19 56954042 [A/G] NM_022103,NR_030740 ZNF667,ZNF667 EXON Missense_C108R,Silent exm1511634 19 56954066 [A/C] NM_022103,NR_030740 ZNF667,ZNF667 EXON Missense_C100G,Silent exm1511637 19 56954105 [T/C] NM_022103,NR_030740 ZNF667,ZNF667 EXON Missense_G87R,Silent exm1511642 19 56969536 [A/G] NM_022103,NR_030740 ZNF667,ZNF667 EXON Missense_R81C,Silent exm1511648 19 56972076 [A/G] NM_022103,NR_030740 ZNF667,ZNF667 EXON Missense_R48W,Silent exm1511654 19 56972176 [T/C] NM_022103,NR_030740 ZNF667,ZNF667 EXON Missense_I14M,Silent exm-IND19-61665590 19 56973779 [I/D] NM_022103,NR_030740 ZNF667,ZNF667 EXON exm1952672 19 57027673 [A/G] NM_020813 ZNF471 EXON Missense_I21M exm1511672 19 57027720 [A/G] NM_020813 ZNF471 EXON Missense_R37H exm1511673 19 57027762 [T/C] NM_020813 ZNF471 EXON Missense_V51A exm1511678 19 57035753 [T/C] NM_020813 ZNF471 EXON Missense_A106V exm1511679 19 57035757 [A/C] NM_020813 ZNF471 EXON Nonsense_C107X exm1511688 19 57036012 [T/G] NM_020813 ZNF471 EXON Missense_M192I exm1511694 19 57036310 [T/C] NM_020813 ZNF471 EXON Missense_C292R exm1511695 19 57036362 [A/G] NM_020813 ZNF471 EXON Missense_Q309R exm1511701 19 57036434 [T/G] NM_020813 ZNF471 EXON Missense_F333C exm1511706 19 57036488 [C/G] NM_020813 ZNF471 EXON Missense_C351S exm1511707 19 57036523 [T/C] NM_020813 ZNF471 EXON Missense_R363C exm1511708 19 57036524 [A/G] NM_020813 ZNF471 EXON Missense_R363H exm1511712 19 57036653 [A/G] NM_020813 ZNF471 EXON Missense_G406D exm1952696 19 57037037 [A/G] NM_020813 ZNF471 EXON Missense_Q534R exm1511737 19 57037309 [A/G] NM_020813 ZNF471 EXON Missense_E625K exm1511744 19 57050521 [A/G] NM_020828 ZFP28 EXON Missense_G45E exm1952709 19 57059245 [A/G] NM_020828 ZFP28 EXON Missense_R166Q exm2254044 19 57060427 [T/C] NM_020828 ZFP28 EXON Synonymous_Y208Y exm1511761 19 57060427 [T/C] NM_020828 ZFP28 EXON Synonymous_Y208Y exm1511777 19 57065116 [T/C] NM_020828 ZFP28 EXON Missense_V321A exm1511778 19 57065118 [A/G] NM_020828 ZFP28 EXON Missense_T322A exm1511781 19 57065182 [A/C] NM_020828 ZFP28 EXON Missense_Y343S exm1511787 19 57065254 [T/C] NM_020828 ZFP28 EXON Missense_T367I exm1511788 19 57065298 [T/C] NM_020828 ZFP28 EXON Missense_W382R exm1511791 19 57065337 [T/C] NM_020828 ZFP28 EXON Missense_R395C exm1511793 19 57065386 [T/C] NM_020828 ZFP28 EXON Missense_T411I exm1511810 19 57065884 [T/C] NM_020828 ZFP28 EXON Missense_T577I exm1511816 19 57066013 [T/C] NM_020828 ZFP28 EXON Missense_A620V exm2254045 19 57066113 [A/G] NM_020828 ZFP28 EXON Synonymous_A653A exm1511832 19 57066576 [A/T] NM_020828 ZFP28 EXON Missense_T808S exm1511834 19 57066592 [A/G] NM_020828 ZFP28 EXON Missense_Y813C exm1511835 19 57066606 [A/G] NM_020828 ZFP28 EXON Missense_S818G exm1511836 19 57066607 [A/G] NM_020828 ZFP28 EXON Missense_S818N exm1511839 19 57066652 [A/G] NM_020828 ZFP28 EXON Missense_R833Q exm1511843 19 57066675 [A/G] NM_020828 ZFP28 EXON Missense_T841A exm1511850 19 57085769 [C/G] NM_001001668 ZNF470 EXON Missense_V23L exm1511853 19 57085829 [T/G] NM_001001668 ZNF470 EXON Missense_A43S exm1511862 19 57086099 [G/C] NM_001001668 ZNF470 EXON Missense_P94A exm1511865 19 57088150 [T/C] NM_001001668 ZNF470 EXON Missense_P118L exm1511866 19 57088158 [A/G] NM_001001668 ZNF470 EXON Missense_I121V exm1511869 19 57088225 [A/G] NM_001001668 ZNF470 EXON Missense_D143G exm1511874 19 57088558 [A/G] NM_001001668 ZNF470 EXON Missense_K254R exm1511876 19 57088587 [A/G] NM_001001668 ZNF470 EXON Missense_A264T exm1511888 19 57088876 [A/G] NM_001001668 ZNF470 EXON Missense_R360K exm1511895 19 57088951 [T/G] NM_001001668 ZNF470 EXON Missense_R385L exm1511899 19 57089020 [T/A] NM_001001668 ZNF470 EXON Missense_D408V exm1511900 19 57089050 [T/C] NM_001001668 ZNF470 EXON Missense_T418I exm2230238 19 57089299 [A/G] NM_001001668 ZNF470 EXON Missense_R501K exm1511913 19 57089370 [A/G] NM_001001668 ZNF470 EXON Missense_A525T exm1511916 19 57089403 [C/G] NM_001001668 ZNF470 EXON Missense_P536A exm1511918 19 57089463 [G/C] NM_001001668 ZNF470 EXON Missense_Q556E exm1511920 19 57089496 [T/C] NM_001001668 ZNF470 EXON Missense_C567R exm1511926 19 57089556 [T/C] NM_001001668 ZNF470 EXON Missense_H587Y exm1511927 19 57089562 [A/G] NM_001001668 ZNF470 EXON Missense_G589S exm1511935 19 57089722 [T/C] NM_001001668 ZNF470 EXON Missense_I642T exm1511939 19 57089835 [A/G] NM_001001668 ZNF470 EXON Missense_K680E exm1511948 19 57089949 [T/C] NM_001001668 ZNF470 EXON Missense_X718Q exm1511951 19 57132677 [A/G] NM_021216 ZNF71 EXON Missense_N8D exm1511952 19 57132687 [T/C] NM_021216 ZNF71 EXON Missense_S11L exm1511956 19 57132734 [A/G] NM_021216 ZNF71 EXON Missense_R27G exm1511969 19 57132879 [A/G] NM_021216 ZNF71 EXON Missense_C75Y exm2230240 19 57132930 [A/G] NM_021216 ZNF71 EXON Missense_R92Q exm1511972 19 57132942 [T/C] NM_021216 ZNF71 EXON Missense_P96L exm1511974 19 57132968 [A/G] NM_021216 ZNF71 EXON Missense_V105I exm1511978 19 57133017 [T/C] NM_021216 ZNF71 EXON Missense_P121L exm1511982 19 57133077 [A/G] NM_021216 ZNF71 EXON Missense_R141Q exm1511987 19 57133190 [A/G] NM_021216 ZNF71 EXON Missense_V179M exm1511988 19 57133191 [T/C] NM_021216 ZNF71 EXON Missense_V179A exm1512019 19 57133862 [A/G] NM_021216 ZNF71 EXON Missense_V403M exm1512041 19 57158953 [T/C] NM_001193628 SMIM17 EXON Missense_S66F exm1512072 19 57175477 [A/G] NM_001005850 ZNF835 EXON Missense_C364R exm1512081 19 57175555 [A/G] NM_001005850 ZNF835 EXON Nonsense_Q338X exm1512102 19 57175814 [G/C] NM_001005850 ZNF835 EXON Missense_E251D exm1512166 19 57176482 [T/C] NM_001005850 ZNF835 EXON Missense_E29K exm1512167 19 57176506 [A/C] NM_001005850 ZNF835 EXON Nonsense_E21X exm2272807 19 57182204 [T/C] NM_001005850 ZNF835 Silent exm1512178 19 57286130 [T/C] NM_001146326,NM_015363,NM_001146327 ZIM2,ZIM2,ZIM2 EXON Missense_G504S,Missense_G504S,Missense_G504S exm1512182 19 57286222 [T/C] NM_001146326,NM_015363,NM_001146327 ZIM2,ZIM2,ZIM2 EXON Missense_R473K,Missense_R473K,Missense_R473K exm1512185 19 57286259 [T/C] NM_001146326,NM_015363,NM_001146327 ZIM2,ZIM2,ZIM2 EXON Missense_V461I,Missense_V461I,Missense_V461I exm1512186 19 57286273 [T/C] NM_001146326,NM_015363,NM_001146327 ZIM2,ZIM2,ZIM2 EXON Missense_R456Q,Missense_R456Q,Missense_R456Q exm1512191 19 57286417 [T/C] NM_001146326,NM_015363,NM_001146327 ZIM2,ZIM2,ZIM2 EXON Missense_Q408R,Missense_Q408R,Missense_Q408R exm1512192 19 57286435 [T/C] NM_001146326,NM_015363,NM_001146327 ZIM2,ZIM2,ZIM2 EXON Missense_R402H,Missense_R402H,Missense_R402H exm1512201 19 57286568 [A/G] NM_001146326,NM_015363,NM_001146327 ZIM2,ZIM2,ZIM2 EXON Missense_C358R,Missense_C358R,Missense_C358R exm1512204 19 57286624 [A/G] NM_001146326,NM_015363,NM_001146327 ZIM2,ZIM2,ZIM2 EXON Missense_T339M,Missense_T339M,Missense_T339M exm1512205 19 57286636 [T/C] NM_001146326,NM_015363,NM_001146327 ZIM2,ZIM2,ZIM2 EXON Missense_R335Q,Missense_R335Q,Missense_R335Q exm1512208 19 57286738 [A/G] NM_001146326,NM_015363,NM_001146327 ZIM2,ZIM2,ZIM2 EXON Missense_P301L,Missense_P301L,Missense_P301L exm1512214 19 57286815 [A/C] NM_001146326,NM_015363,NM_001146327 ZIM2,ZIM2,ZIM2 EXON Missense_K275N,Missense_K275N,Missense_K275N exm1512223 19 57290808 [A/G] NM_001146326,NM_015363,NM_001146327 ZIM2,ZIM2,ZIM2 EXON Missense_R227C,Missense_R227C,Missense_R227C exm1512229 19 57293351 [T/G] NM_001146326,NM_015363,NM_001146327 ZIM2,ZIM2,ZIM2 EXON Missense_L206M,Missense_L206M,Missense_L206M exm1512231 19 57293476 [T/C] NM_001146326,NM_015363,NM_001146327 ZIM2,ZIM2,ZIM2 EXON Missense_K164R,Missense_K164R,Missense_K164R exm1512235 19 57325072 [T/C] NM_001146326,NM_015363,NM_001146327,NM_001146186,NM_001146185,NM_001146184,NM_006210,NM_001146187,NR_023847 ZIM2,ZIM2,ZIM2,PEG3,PEG3,PEG3,PEG3,PEG3,PEG3-AS1 EXON Silent,Silent,Silent,Missense_A1580T,Missense_A1454T,Missense_A1580T,Missense_A1580T,Missense_A1456T,Silent exm1512237 19 57325083 [T/C] NM_001146326,NM_015363,NM_001146327,NM_001146186,NM_001146185,NM_001146184,NM_006210,NM_001146187,NR_023847 ZIM2,ZIM2,ZIM2,PEG3,PEG3,PEG3,PEG3,PEG3,PEG3-AS1 EXON Silent,Silent,Silent,Missense_R1576H,Missense_R1450H,Missense_R1576H,Missense_R1576H,Missense_R1452H,Silent exm1512249 19 57325304 [T/A] NM_001146326,NM_015363,NM_001146327,NM_001146186,NM_001146185,NM_001146184,NM_006210,NM_001146187 ZIM2,ZIM2,ZIM2,PEG3,PEG3,PEG3,PEG3,PEG3 EXON Silent,Silent,Silent,Missense_E1502D,Missense_E1376D,Missense_E1502D,Missense_E1502D,Missense_E1378D exm1512258 19 57325372 [T/C] NM_001146326,NM_015363,NM_001146327,NM_001146186,NM_001146185,NM_001146184,NM_006210,NM_001146187 ZIM2,ZIM2,ZIM2,PEG3,PEG3,PEG3,PEG3,PEG3 EXON Silent,Silent,Silent,Missense_D1480N,Missense_D1354N,Missense_D1480N,Missense_D1480N,Missense_D1356N exm1512261 19 57325443 [A/G] NM_001146326,NM_015363,NM_001146327,NM_001146186,NM_001146185,NM_001146184,NM_006210,NM_001146187 ZIM2,ZIM2,ZIM2,PEG3,PEG3,PEG3,PEG3,PEG3 EXON Silent,Silent,Silent,Missense_A1456V,Missense_A1330V,Missense_A1456V,Missense_A1456V,Missense_A1332V exm1512265 19 57325480 [T/C] NM_001146326,NM_015363,NM_001146327,NM_001146186,NM_001146185,NM_001146184,NM_006210,NM_001146187 ZIM2,ZIM2,ZIM2,PEG3,PEG3,PEG3,PEG3,PEG3 EXON Silent,Silent,Silent,Missense_E1444K,Missense_E1318K,Missense_E1444K,Missense_E1444K,Missense_E1320K exm1512270 19 57325537 [C/G] NM_001146326,NM_015363,NM_001146327,NM_001146186,NM_001146185,NM_001146184,NM_006210,NM_001146187 ZIM2,ZIM2,ZIM2,PEG3,PEG3,PEG3,PEG3,PEG3 EXON Silent,Silent,Silent,Missense_P1425A,Missense_P1299A,Missense_P1425A,Missense_P1425A,Missense_P1301A exm1512272 19 57325545 [C/G] NM_001146326,NM_015363,NM_001146327,NM_001146186,NM_001146185,NM_001146184,NM_006210,NM_001146187 ZIM2,ZIM2,ZIM2,PEG3,PEG3,PEG3,PEG3,PEG3 EXON Silent,Silent,Silent,Missense_A1422G,Missense_A1296G,Missense_A1422G,Missense_A1422G,Missense_A1298G exm1512306 19 57326245 [T/G] NM_001146326,NM_015363,NM_001146327,NM_001146186,NM_001146185,NM_001146184,NM_006210,NM_001146187 ZIM2,ZIM2,ZIM2,PEG3,PEG3,PEG3,PEG3,PEG3 EXON Silent,Silent,Silent,Missense_Q1189K,Missense_Q1063K,Missense_Q1189K,Missense_Q1189K,Missense_Q1065K exm1512313 19 57326500 [T/C] NM_001146326,NM_015363,NM_001146327,NM_001146186,NM_001146185,NM_001146184,NM_006210,NM_001146187 ZIM2,ZIM2,ZIM2,PEG3,PEG3,PEG3,PEG3,PEG3 EXON Silent,Silent,Silent,Missense_D1104N,Missense_D978N,Missense_D1104N,Missense_D1104N,Missense_D980N exm1512315 19 57326587 [T/C] NM_001146326,NM_015363,NM_001146327,NM_001146186,NM_001146185,NM_001146184,NM_006210,NM_001146187 ZIM2,ZIM2,ZIM2,PEG3,PEG3,PEG3,PEG3,PEG3 EXON Silent,Silent,Silent,Missense_S1075G,Missense_S949G,Missense_S1075G,Missense_S1075G,Missense_S951G exm1512316 19 57326594 [A/C] NM_001146326,NM_015363,NM_001146327,NM_001146186,NM_001146185,NM_001146184,NM_006210,NM_001146187 ZIM2,ZIM2,ZIM2,PEG3,PEG3,PEG3,PEG3,PEG3 EXON Silent,Silent,Silent,Missense_E1072D,Missense_E946D,Missense_E1072D,Missense_E1072D,Missense_E948D exm1512319 19 57326680 [T/C] NM_001146326,NM_015363,NM_001146327,NM_001146186,NM_001146185,NM_001146184,NM_006210,NM_001146187 ZIM2,ZIM2,ZIM2,PEG3,PEG3,PEG3,PEG3,PEG3 EXON Silent,Silent,Silent,Missense_E1044K,Missense_E918K,Missense_E1044K,Missense_E1044K,Missense_E920K exm1512320 19 57326721 [T/C] NM_001146326,NM_015363,NM_001146327,NM_001146186,NM_001146185,NM_001146184,NM_006210,NM_001146187 ZIM2,ZIM2,ZIM2,PEG3,PEG3,PEG3,PEG3,PEG3 EXON Silent,Silent,Silent,Missense_R1030Q,Missense_R904Q,Missense_R1030Q,Missense_R1030Q,Missense_R906Q exm1512323 19 57326752 [T/C] NM_001146326,NM_015363,NM_001146327,NM_001146186,NM_001146185,NM_001146184,NM_006210,NM_001146187 ZIM2,ZIM2,ZIM2,PEG3,PEG3,PEG3,PEG3,PEG3 EXON Silent,Silent,Silent,Missense_A1020T,Missense_A894T,Missense_A1020T,Missense_A1020T,Missense_A896T exm1512326 19 57326808 [T/C] NM_001146326,NM_015363,NM_001146327,NM_001146186,NM_001146185,NM_001146184,NM_006210,NM_001146187 ZIM2,ZIM2,ZIM2,PEG3,PEG3,PEG3,PEG3,PEG3 EXON Silent,Silent,Silent,Missense_N1001S,Missense_N875S,Missense_N1001S,Missense_N1001S,Missense_N877S exm1952870 19 57326839 [G/C] NM_001146326,NM_015363,NM_001146327,NM_001146186,NM_001146185,NM_001146184,NM_006210,NM_001146187 ZIM2,ZIM2,ZIM2,PEG3,PEG3,PEG3,PEG3,PEG3 EXON Silent,Silent,Silent,Missense_H991D,Missense_H865D,Missense_H991D,Missense_H991D,Missense_H867D exm1512329 19 57326850 [T/C] NM_001146326,NM_015363,NM_001146327,NM_001146186,NM_001146185,NM_001146184,NM_006210,NM_001146187 ZIM2,ZIM2,ZIM2,PEG3,PEG3,PEG3,PEG3,PEG3 EXON Silent,Silent,Silent,Missense_H987R,Missense_H861R,Missense_H987R,Missense_H987R,Missense_H863R exm1512331 19 57326868 [T/C] NM_001146326,NM_015363,NM_001146327,NM_001146186,NM_001146185,NM_001146184,NM_006210,NM_001146187 ZIM2,ZIM2,ZIM2,PEG3,PEG3,PEG3,PEG3,PEG3 EXON Silent,Silent,Silent,Missense_S981N,Missense_S855N,Missense_S981N,Missense_S981N,Missense_S857N exm1512332 19 57326904 [T/C] NM_001146326,NM_015363,NM_001146327,NM_001146186,NM_001146185,NM_001146184,NM_006210,NM_001146187 ZIM2,ZIM2,ZIM2,PEG3,PEG3,PEG3,PEG3,PEG3 EXON Silent,Silent,Silent,Missense_Y969C,Missense_Y843C,Missense_Y969C,Missense_Y969C,Missense_Y845C exm1512336 19 57326970 [T/C] NM_001146326,NM_015363,NM_001146327,NM_001146186,NM_001146185,NM_001146184,NM_006210,NM_001146187 ZIM2,ZIM2,ZIM2,PEG3,PEG3,PEG3,PEG3,PEG3 EXON Silent,Silent,Silent,Missense_N947S,Missense_N821S,Missense_N947S,Missense_N947S,Missense_N823S exm1512340 19 57327022 [A/G] NM_001146326,NM_015363,NM_001146327,NM_001146186,NM_001146185,NM_001146184,NM_006210,NM_001146187 ZIM2,ZIM2,ZIM2,PEG3,PEG3,PEG3,PEG3,PEG3 EXON Silent,Silent,Silent,Missense_R930C,Missense_R804C,Missense_R930C,Missense_R930C,Missense_R806C exm1512341 19 57327061 [T/G] NM_001146326,NM_015363,NM_001146327,NM_001146186,NM_001146185,NM_001146184,NM_006210,NM_001146187 ZIM2,ZIM2,ZIM2,PEG3,PEG3,PEG3,PEG3,PEG3 EXON Silent,Silent,Silent,Missense_K917Q,Missense_K791Q,Missense_K917Q,Missense_K917Q,Missense_K793Q exm1512343 19 57327102 [T/C] NM_001146326,NM_015363,NM_001146327,NM_001146186,NM_001146185,NM_001146184,NM_006210,NM_001146187 ZIM2,ZIM2,ZIM2,PEG3,PEG3,PEG3,PEG3,PEG3 EXON Silent,Silent,Silent,Missense_K903R,Missense_K777R,Missense_K903R,Missense_K903R,Missense_K779R exm1512352 19 57327295 [G/C] NM_001146326,NM_015363,NM_001146327,NM_001146186,NM_001146185,NM_001146184,NM_006210,NM_001146187 ZIM2,ZIM2,ZIM2,PEG3,PEG3,PEG3,PEG3,PEG3 EXON Silent,Silent,Silent,Missense_V839L,Missense_V713L,Missense_V839L,Missense_V839L,Missense_V715L exm1512353 19 57327342 [T/C] NM_001146326,NM_015363,NM_001146327,NM_001146186,NM_001146185,NM_001146184,NM_006210,NM_001146187 ZIM2,ZIM2,ZIM2,PEG3,PEG3,PEG3,PEG3,PEG3 EXON Silent,Silent,Silent,Missense_N823S,Missense_N697S,Missense_N823S,Missense_N823S,Missense_N699S exm1512355 19 57327355 [A/G] NM_001146326,NM_015363,NM_001146327,NM_001146186,NM_001146185,NM_001146184,NM_006210,NM_001146187 ZIM2,ZIM2,ZIM2,PEG3,PEG3,PEG3,PEG3,PEG3 EXON Silent,Silent,Silent,Missense_R819C,Missense_R693C,Missense_R819C,Missense_R819C,Missense_R695C exm1512359 19 57327420 [A/C] NM_001146326,NM_015363,NM_001146327,NM_001146186,NM_001146185,NM_001146184,NM_006210,NM_001146187 ZIM2,ZIM2,ZIM2,PEG3,PEG3,PEG3,PEG3,PEG3 EXON Silent,Silent,Silent,Missense_S797I,Missense_S671I,Missense_S797I,Missense_S797I,Missense_S673I exm1512360 19 57327432 [A/G] NM_001146326,NM_015363,NM_001146327,NM_001146186,NM_001146185,NM_001146184,NM_006210,NM_001146187 ZIM2,ZIM2,ZIM2,PEG3,PEG3,PEG3,PEG3,PEG3 EXON Silent,Silent,Silent,Missense_V793A,Missense_V667A,Missense_V793A,Missense_V793A,Missense_V669A exm1512364 19 57327634 [T/C] NM_001146326,NM_015363,NM_001146327,NM_001146186,NM_001146185,NM_001146184,NM_006210,NM_001146187 ZIM2,ZIM2,ZIM2,PEG3,PEG3,PEG3,PEG3,PEG3 EXON Silent,Silent,Silent,Missense_G726R,Missense_G600R,Missense_G726R,Missense_G726R,Missense_G602R exm1512365 19 57327718 [A/C] NM_001146326,NM_015363,NM_001146327,NM_001146186,NM_001146185,NM_001146184,NM_006210,NM_001146187 ZIM2,ZIM2,ZIM2,PEG3,PEG3,PEG3,PEG3,PEG3 EXON Silent,Silent,Silent,Missense_S698A,Missense_S572A,Missense_S698A,Missense_S698A,Missense_S574A exm1512367 19 57327738 [T/C] NM_001146326,NM_015363,NM_001146327,NM_001146186,NM_001146185,NM_001146184,NM_006210,NM_001146187 ZIM2,ZIM2,ZIM2,PEG3,PEG3,PEG3,PEG3,PEG3 EXON Silent,Silent,Silent,Missense_R691Q,Missense_R565Q,Missense_R691Q,Missense_R691Q,Missense_R567Q exm1512368 19 57327739 [A/G] NM_001146326,NM_015363,NM_001146327,NM_001146186,NM_001146185,NM_001146184,NM_006210,NM_001146187 ZIM2,ZIM2,ZIM2,PEG3,PEG3,PEG3,PEG3,PEG3 EXON Silent,Silent,Silent,Missense_R691W,Missense_R565W,Missense_R691W,Missense_R691W,Missense_R567W exm1512375 19 57327939 [T/C] NM_001146326,NM_015363,NM_001146327,NM_001146186,NM_001146185,NM_001146184,NM_006210,NM_001146187 ZIM2,ZIM2,ZIM2,PEG3,PEG3,PEG3,PEG3,PEG3 EXON Silent,Silent,Silent,Missense_E624G,Missense_E498G,Missense_E624G,Missense_E624G,Missense_E500G exm1512377 19 57327950 [T/C] NM_001146326,NM_015363,NM_001146327,NM_001146186,NM_001146185,NM_001146184,NM_006210,NM_001146187 ZIM2,ZIM2,ZIM2,PEG3,PEG3,PEG3,PEG3,PEG3 EXON Silent,Silent,Silent,Missense_M620I,Missense_M494I,Missense_M620I,Missense_M620I,Missense_M496I exm1512379 19 57327964 [T/C] NM_001146326,NM_015363,NM_001146327,NM_001146186,NM_001146185,NM_001146184,NM_006210,NM_001146187 ZIM2,ZIM2,ZIM2,PEG3,PEG3,PEG3,PEG3,PEG3 EXON Silent,Silent,Silent,Missense_E616K,Missense_E490K,Missense_E616K,Missense_E616K,Missense_E492K exm1512384 19 57327999 [T/C] NM_001146326,NM_015363,NM_001146327,NM_001146186,NM_001146185,NM_001146184,NM_006210,NM_001146187 ZIM2,ZIM2,ZIM2,PEG3,PEG3,PEG3,PEG3,PEG3 EXON Silent,Silent,Silent,Missense_R604H,Missense_R478H,Missense_R604H,Missense_R604H,Missense_R480H exm1512387 19 57328006 [A/G] NM_001146326,NM_015363,NM_001146327,NM_001146186,NM_001146185,NM_001146184,NM_006210,NM_001146187 ZIM2,ZIM2,ZIM2,PEG3,PEG3,PEG3,PEG3,PEG3 EXON Silent,Silent,Silent,Missense_R602C,Missense_R476C,Missense_R602C,Missense_R602C,Missense_R478C exm1512388 19 57328011 [T/C] NM_001146326,NM_015363,NM_001146327,NM_001146186,NM_001146185,NM_001146184,NM_006210,NM_001146187 ZIM2,ZIM2,ZIM2,PEG3,PEG3,PEG3,PEG3,PEG3 EXON Silent,Silent,Silent,Missense_R600H,Missense_R474H,Missense_R600H,Missense_R600H,Missense_R476H exm1512390 19 57328023 [T/C] NM_001146326,NM_015363,NM_001146327,NM_001146186,NM_001146185,NM_001146184,NM_006210,NM_001146187 ZIM2,ZIM2,ZIM2,PEG3,PEG3,PEG3,PEG3,PEG3 EXON Silent,Silent,Silent,Missense_H596R,Missense_H470R,Missense_H596R,Missense_H596R,Missense_H472R exm1512393 19 57328141 [A/G] NM_001146326,NM_015363,NM_001146327,NM_001146186,NM_001146185,NM_001146184,NM_006210,NM_001146187 ZIM2,ZIM2,ZIM2,PEG3,PEG3,PEG3,PEG3,PEG3 EXON Silent,Silent,Silent,Missense_Y557H,Missense_Y431H,Missense_Y557H,Missense_Y557H,Missense_Y433H exm1512394 19 57328213 [A/C] NM_001146326,NM_015363,NM_001146327,NM_001146186,NM_001146185,NM_001146184,NM_006210,NM_001146187 ZIM2,ZIM2,ZIM2,PEG3,PEG3,PEG3,PEG3,PEG3 EXON Silent,Silent,Silent,Missense_V533L,Missense_V407L,Missense_V533L,Missense_V533L,Missense_V409L exm1512404 19 57328528 [T/C] NM_001146326,NM_015363,NM_001146327,NM_001146186,NM_001146185,NM_001146184,NM_006210,NM_001146187 ZIM2,ZIM2,ZIM2,PEG3,PEG3,PEG3,PEG3,PEG3 EXON Silent,Silent,Silent,Missense_V428M,Missense_V302M,Missense_V428M,Missense_V428M,Missense_V304M exm1512408 19 57328633 [A/G] NM_001146326,NM_015363,NM_001146327,NM_001146186,NM_001146185,NM_001146184,NM_006210,NM_001146187 ZIM2,ZIM2,ZIM2,PEG3,PEG3,PEG3,PEG3,PEG3 EXON Silent,Silent,Silent,Missense_R393C,Missense_R267C,Missense_R393C,Missense_R393C,Missense_R269C exm1512410 19 57328659 [T/C] NM_001146326,NM_015363,NM_001146327,NM_001146186,NM_001146185,NM_001146184,NM_006210,NM_001146187 ZIM2,ZIM2,ZIM2,PEG3,PEG3,PEG3,PEG3,PEG3 EXON Silent,Silent,Silent,Missense_R384K,Missense_R258K,Missense_R384K,Missense_R384K,Missense_R260K exm1512411 19 57328672 [T/C] NM_001146326,NM_015363,NM_001146327,NM_001146186,NM_001146185,NM_001146184,NM_006210,NM_001146187 ZIM2,ZIM2,ZIM2,PEG3,PEG3,PEG3,PEG3,PEG3 EXON Silent,Silent,Silent,Missense_T380A,Missense_T254A,Missense_T380A,Missense_T380A,Missense_T256A exm1952888 19 57328774 [T/C] NM_001146326,NM_015363,NM_001146327,NM_001146186,NM_001146185,NM_001146184,NM_006210,NM_001146187 ZIM2,ZIM2,ZIM2,PEG3,PEG3,PEG3,PEG3,PEG3 EXON Silent,Silent,Silent,Missense_D346N,Missense_D220N,Missense_D346N,Missense_D346N,Missense_D222N exm1512415 19 57328801 [A/G] NM_001146326,NM_015363,NM_001146327,NM_001146186,NM_001146185,NM_001146184,NM_006210,NM_001146187 ZIM2,ZIM2,ZIM2,PEG3,PEG3,PEG3,PEG3,PEG3 EXON Silent,Silent,Silent,Missense_R337W,Missense_R211W,Missense_R337W,Missense_R337W,Missense_R213W exm1512417 19 57328804 [C/G] NM_001146326,NM_015363,NM_001146327,NM_001146186,NM_001146185,NM_001146184,NM_006210,NM_001146187 ZIM2,ZIM2,ZIM2,PEG3,PEG3,PEG3,PEG3,PEG3 EXON Silent,Silent,Silent,Missense_D336H,Missense_D210H,Missense_D336H,Missense_D336H,Missense_D212H exm1512419 19 57328840 [A/G] NM_001146326,NM_015363,NM_001146327,NM_001146186,NM_001146185,NM_001146184,NM_006210,NM_001146187 ZIM2,ZIM2,ZIM2,PEG3,PEG3,PEG3,PEG3,PEG3 EXON Silent,Silent,Silent,Missense_R324C,Missense_R198C,Missense_R324C,Missense_R324C,Missense_R200C exm1512425 19 57329117 [G/C] NM_001146326,NM_015363,NM_001146327,NM_001146186,NM_001146185,NM_001146184,NM_006210,NM_001146187 ZIM2,ZIM2,ZIM2,PEG3,PEG3,PEG3,PEG3,PEG3 EXON Silent,Silent,Silent,Missense_R287G,Missense_R161G,Missense_R287G,Missense_R287G,Missense_R163G exm1512430 19 57329167 [A/G] NM_001146326,NM_015363,NM_001146327,NM_001146186,NM_001146185,NM_001146184,NM_006210,NM_001146187 ZIM2,ZIM2,ZIM2,PEG3,PEG3,PEG3,PEG3,PEG3 EXON Silent,Silent,Silent,Missense_T270M,Missense_T144M,Missense_T270M,Missense_T270M,Missense_T146M exm1512434 19 57330015 [T/C] NM_001146326,NM_015363,NM_001146327,NM_001146186,NM_001146185,NM_001146184,NM_006210,NM_001146187 ZIM2,ZIM2,ZIM2,PEG3,PEG3,PEG3,PEG3,PEG3 EXON Missense_N117S,Missense_N117S,Missense_N117S,Missense_N242S,Missense_N116S,Missense_N242S,Missense_N242S,Missense_N117S exm1512435 19 57330017 [T/G] NM_001146326,NM_015363,NM_001146327,NM_001146186,NM_001146185,NM_001146184,NM_006210,NM_001146187 ZIM2,ZIM2,ZIM2,PEG3,PEG3,PEG3,PEG3,PEG3 EXON Missense_H116Q,Missense_H116Q,Missense_H116Q,Missense_H241Q,Missense_H115Q,Missense_H241Q,Missense_H241Q,Missense_H116Q exm1512436 19 57330037 [T/C] NM_001146326,NM_015363,NM_001146327,NM_001146186,NM_001146185,NM_001146184,NM_006210,NM_001146187 ZIM2,ZIM2,ZIM2,PEG3,PEG3,PEG3,PEG3,PEG3 EXON Missense_A110T,Missense_A110T,Missense_A110T,Missense_A235T,Missense_A109T,Missense_A235T,Missense_A235T,Missense_A110T exm1512437 19 57333026 [C/G] NM_001146326,NM_015363,NM_001146327,NM_001146186,NM_001146185,NM_001146184,NM_006210,NM_001146187 ZIM2,ZIM2,ZIM2,PEG3,PEG3,PEG3,PEG3,PEG3 EXON Missense_R96P,Missense_R96P,Missense_R96P,Missense_R221P,Missense_R95P,Missense_R221P,Missense_R221P,Missense_R96P exm1512439 19 57333053 [T/C] NM_001146326,NM_015363,NM_001146327,NM_001146186,NM_001146185,NM_001146184,NM_006210,NM_001146187 ZIM2,ZIM2,ZIM2,PEG3,PEG3,PEG3,PEG3,PEG3 EXON Missense_D87G,Missense_D87G,Missense_D87G,Missense_D212G,Missense_D86G,Missense_D212G,Missense_D212G,Missense_D87G exm1512442 19 57333060 [T/C] NM_001146326,NM_015363,NM_001146327,NM_001146186,NM_001146185,NM_001146184,NM_006210,NM_001146187 ZIM2,ZIM2,ZIM2,PEG3,PEG3,PEG3,PEG3,PEG3 EXON Missense_E85K,Missense_E85K,Missense_E85K,Missense_E210K,Missense_E84K,Missense_E210K,Missense_E210K,Missense_E85K exm1512447 19 57334198 [T/C] NM_001146326,NM_015363,NM_001146327,NM_001146186,NM_001146185,NM_001146184,NM_006210,NM_001146187 ZIM2,ZIM2,ZIM2,PEG3,PEG3,PEG3,PEG3,PEG3 EXON Missense_R38Q,Missense_R38Q,Missense_R38Q,Missense_R163Q,Missense_R37Q,Missense_R163Q,Missense_R163Q,Missense_R38Q exm1512449 19 57334963 [A/G] NM_001146326,NM_015363,NM_001146327,NM_001146186,NM_001146185,NM_001146184,NM_006210,NM_001146187 ZIM2,ZIM2,ZIM2,PEG3,PEG3,PEG3,PEG3,PEG3 EXON Missense_F34S,Missense_F34S,Missense_F34S,Missense_F160S,Missense_F34S,Missense_F160S,Missense_F160S,Missense_F34S exm1512451 19 57335015 [T/C] NM_001146326,NM_015363,NM_001146327,NM_001146186,NM_001146185,NM_001146184,NM_006210,NM_001146187 ZIM2,ZIM2,ZIM2,PEG3,PEG3,PEG3,PEG3,PEG3 EXON Missense_D17N,Missense_D17N,Missense_D17N,Missense_D143N,Missense_D17N,Missense_D143N,Missense_D143N,Missense_D17N exm1952906 19 57335735 [T/C] NM_001146326,NM_015363,NM_001146327,NM_001146186,NM_001146185,NM_001146184,NM_006210,NM_001146187 ZIM2,ZIM2,ZIM2,PEG3,PEG3,PEG3,PEG3,PEG3 EXON Silent,Silent,Silent,Missense_I97V,Silent,Missense_I97V,Missense_I97V,Silent exm1512471 19 57335875 [T/C] NM_001146326,NM_015363,NM_001146327,NM_001146186,NM_001146185,NM_001146184,NM_006210,NM_001146187 ZIM2,ZIM2,ZIM2,PEG3,PEG3,PEG3,PEG3,PEG3 EXON Silent,Silent,Silent,Missense_R50Q,Silent,Missense_R50Q,Missense_R50Q,Silent exm1512476 19 57335976 [T/C] NM_001146326,NM_015363,NM_001146327,NM_001146186,NM_001146185,NM_001146184,NM_006210,NM_001146187 ZIM2,ZIM2,ZIM2,PEG3,PEG3,PEG3,PEG3,PEG3 EXON Silent,Silent,Silent,Nonsense_W16X,Silent,Nonsense_W16X,Nonsense_W16X,Silent exm2272840 19 57392480 [T/C] exm1512485 19 57640185 [A/G] NM_020903 USP29 EXON Missense_I48V exm1512493 19 57640333 [T/C] NM_020903 USP29 EXON Missense_M97T exm1512495 19 57640381 [A/C] NM_020903 USP29 EXON Missense_S113Y exm1512496 19 57640393 [A/G] NM_020903 USP29 EXON Nonsense_W117X exm1512498 19 57640540 [A/G] NM_020903 USP29 EXON Missense_G166D exm1952943 19 57640938 [T/G] NM_020903 USP29 EXON Missense_V299F exm1512514 19 57641146 [A/G] NM_020903 USP29 EXON Missense_N368S exm1512515 19 57641178 [G/C] NM_020903 USP29 EXON Missense_Q379E exm1512518 19 57641251 [T/A] NM_020903 USP29 EXON Missense_D403V exm1512520 19 57641296 [A/G] NM_020903 USP29 EXON Missense_K418R exm1512524 19 57641413 [A/T] NM_020903 USP29 EXON Missense_N457I exm1512525 19 57641440 [G/C] NM_020903 USP29 EXON Missense_P466R exm1512530 19 57641508 [T/C] NM_020903 USP29 EXON Missense_C489R exm1512544 19 57641799 [A/G] NM_020903 USP29 EXON Missense_E586K exm1512545 19 57641826 [A/G] NM_020903 USP29 EXON Missense_V595I exm1512547 19 57641887 [A/G] NM_020903 USP29 EXON Missense_Q615R exm1512549 19 57641959 [T/C] NM_020903 USP29 EXON Missense_A639V exm1512556 19 57642056 [A/C] NM_020903 USP29 EXON Missense_S671R exm1512568 19 57642205 [A/G] NM_020903 USP29 EXON Missense_N721S exm1512570 19 57642242 [T/G] NM_020903 USP29 EXON Missense_Q733H exm1512575 19 57642394 [T/C] NM_020903 USP29 EXON Missense_L784P exm1512578 19 57642409 [A/C] NM_020903 USP29 EXON Missense_S789Y exm1512579 19 57642413 [A/C] NM_020903 USP29 EXON Missense_D790E exm1512587 19 57642610 [A/G] NM_020903 USP29 EXON Missense_Y856C exm1512591 19 57642658 [T/C] NM_020903 USP29 EXON Missense_A872V exm1512593 19 57642690 [T/A] NM_020903 USP29 EXON Missense_M883L exm1512595 19 57642739 [A/G] NM_020903 USP29 EXON Missense_R899Q exm1512603 19 57646318 [T/C] NM_052882 ZIM3 EXON Missense_V463I exm1512604 19 57646324 [A/C] NM_052882 ZIM3 EXON Missense_Y461D exm1512607 19 57646393 [A/T] NM_052882 ZIM3 EXON Nonsense_K438X exm1512610 19 57646406 [G/C] NM_052882 ZIM3 EXON Missense_N433K exm1512612 19 57646416 [T/C] NM_052882 ZIM3 EXON Missense_R430Q exm1512613 19 57646417 [A/G] NM_052882 ZIM3 EXON Missense_R430W exm1512614 19 57646444 [A/C] NM_052882 ZIM3 EXON Missense_C421G exm1512621 19 57646545 [T/C] NM_052882 ZIM3 EXON Missense_G387E exm1512622 19 57646570 [T/C] NM_052882 ZIM3 EXON Missense_I379V exm1512631 19 57646716 [A/G] NM_052882 ZIM3 EXON Missense_T330M exm1512632 19 57646751 [T/G] NM_052882 ZIM3 EXON Nonsense_Y318X exm1512633 19 57646767 [T/C] NM_052882 ZIM3 EXON Missense_G313E exm1512640 19 57646950 [T/C] NM_052882 ZIM3 EXON Missense_Q252R exm1512647 19 57647056 [G/C] NM_052882 ZIM3 EXON Missense_H217D exm1952969 19 57647077 [T/G] NM_052882 ZIM3 EXON Missense_L210I exm1512649 19 57647092 [T/C] NM_052882 ZIM3 EXON Missense_G205R exm1512657 19 57647229 [A/G] NM_052882 ZIM3 EXON Missense_P159L exm1512658 19 57647236 [T/C] NM_052882 ZIM3 EXON Missense_N157D exm1512666 19 57647457 [T/A] NM_052882 ZIM3 EXON Missense_N83I exm1512671 19 57648262 [G/C] NM_052882 ZIM3 EXON Missense_V74L exm1512672 19 57648277 [A/T] NM_052882 ZIM3 EXON Missense_L69M exm1512674 19 57648331 [T/C] NM_052882 ZIM3 EXON Missense_E51K exm1512683 19 57649962 [T/C] NM_052882 ZIM3 EXON Missense_R7K exm1512692 19 57665848 [T/C] NM_001012729 DUXA EXON Missense_A183T exm1512694 19 57666647 [G/C] NM_001012729 DUXA EXON Missense_E178Q exm1512701 19 57669821 [A/G] NM_001012729 DUXA EXON Missense_R105C exm1512702 19 57669826 [T/C] NM_001012729 DUXA EXON Missense_R103Q exm1512703 19 57669827 [A/G] NM_001012729 DUXA EXON Missense_R103W exm1512704 19 57670570 [A/C] NM_001012729 DUXA EXON Missense_S86I exm1512705 19 57670609 [T/C] NM_001012729 DUXA EXON Missense_Q73R exm1512706 19 57670616 [T/C] NM_001012729 DUXA EXON Missense_G71R exm1512725 19 57705243 [A/G] NM_003417 ZNF264 EXON Missense_V12M exm1512731 19 57705368 [A/G] NM_003417 ZNF264 EXON Synonymous_L53L exm1512751 19 57722724 [A/G] NM_003417 ZNF264 EXON Missense_D87N exm1512763 19 57722962 [A/G] NM_003417 ZNF264 EXON Missense_G166D exm1512765 19 57723007 [C/G] NM_003417 ZNF264 EXON Missense_R181T exm1512766 19 57723013 [A/G] NM_003417 ZNF264 EXON Missense_R183H exm1512767 19 57723018 [T/C] NM_003417 ZNF264 EXON Missense_H185Y exm1512772 19 57723088 [T/G] NM_003417 ZNF264 EXON Missense_C208F exm2254048 19 57723278 [A/G] NM_003417 ZNF264 EXON Synonymous_K271K exm1512780 19 57723322 [T/C] NM_003417 ZNF264 EXON Missense_P286L exm1512783 19 57723373 [A/T] NM_003417 ZNF264 EXON Missense_V303D exm1512792 19 57723493 [A/G] NM_003417 ZNF264 EXON Missense_Y343C exm1512812 19 57723892 [T/C] NM_003417 ZNF264 EXON Missense_I476T exm1512823 19 57724081 [A/G] NM_003417 ZNF264 EXON Missense_Y539C exm1512827 19 57724204 [A/G] NM_003417 ZNF264 EXON Missense_Q580R exm1512832 19 57724245 [T/G] NM_003417 ZNF264 EXON Missense_F594V exm1512852 19 57743531 [A/G] NM_003160,NM_001015879,NM_001015878 AURKC,AURKC,AURKC EXON Missense_I45V,Missense_I95V,Missense_I79V exm1512875 19 57746411 [C/G] NM_003160,NM_001015879,NM_001015878 AURKC,AURKC,AURKC EXON Nonsense_Y214X,Nonsense_Y264X,Nonsense_Y248X exm-rs2014572 19 57760018 [A/G] NM_001145078,NM_001023563 ZNF805,ZNF805 EXON Silent,Missense_G68E exm1512899 19 57764519 [A/G] NM_001145078,NM_001023563 ZNF805,ZNF805 EXON Silent,Missense_Q111R exm1512902 19 57764770 [A/G] NM_001145078,NM_001023563 ZNF805,ZNF805 EXON Missense_V62I,Missense_V195I exm1512906 19 57765152 [A/G] NM_001145078,NM_001023563 ZNF805,ZNF805 EXON Missense_K189R,Missense_K322R exm1512917 19 57765985 [A/G] NM_001145078,NM_001023563 ZNF805,ZNF805 EXON Missense_E467K,Missense_E600K exm1512950 19 57802101 [C/G] NM_006635 ZNF460 EXON Missense_I64M exm2230261 19 57802139 [A/G] NM_006635 ZNF460 EXON Missense_Q77R exm1512976 19 57802784 [A/G] NM_006635 ZNF460 EXON Missense_R292H exm1513000 19 57803525 [T/C] NM_006635 ZNF460 EXON Missense_T539M exm1513003 19 57803539 [A/G] NM_006635 ZNF460 EXON Missense_A544T exm1513022 19 57838018 [C/G] NM_213598 ZNF543 EXON Missense_P55A exm1513025 19 57838058 [A/G] NM_213598 ZNF543 EXON Nonsense_W68X exm1513031 19 57839124 [T/G] NM_213598 ZNF543 EXON Missense_L98F exm1513032 19 57839150 [A/G] NM_213598 ZNF543 EXON Missense_Q107R exm1513036 19 57839257 [T/C] NM_213598 ZNF543 EXON Missense_R143W exm1513038 19 57839291 [A/G] NM_213598 ZNF543 EXON Missense_R154H exm1513039 19 57839407 [T/C] NM_213598 ZNF543 EXON Missense_R193C exm1513042 19 57839431 [T/G] NM_213598 ZNF543 EXON Missense_C201G exm1513044 19 57839506 [C/G] NM_213598 ZNF543 EXON Missense_P226A exm1513046 19 57839518 [A/G] NM_213598 ZNF543 EXON Missense_T230A exm1513049 19 57839567 [T/A] NM_213598 ZNF543 EXON Missense_L246H exm1513091 19 57840314 [T/C] NM_213598 ZNF543 EXON Missense_T495M exm1513095 19 57840350 [A/G] NM_213598 ZNF543 EXON Missense_Y507C exm1513098 19 57840395 [T/G] NM_213598 ZNF543 EXON Missense_L522R exm1513107 19 57840505 [A/G] NM_213598 ZNF543 EXON Missense_G559R exm1513110 19 57840547 [A/G] NM_213598 ZNF543 EXON Missense_M573V exm1513113 19 57840608 [T/C] NM_213598 ZNF543 EXON Missense_I593T exm1513121 19 57863052 [T/C] NM_020657 ZNF304 EXON Missense_M7T exm1513136 19 57867517 [T/C] NM_020657 ZNF304 EXON Missense_C94R exm1513142 19 57867599 [T/C] NM_020657 ZNF304 EXON Missense_L121P exm2230267 19 57867623 [A/G] NM_020657 ZNF304 EXON Missense_S129N exm1513146 19 57867809 [A/G] NM_020657 ZNF304 EXON Missense_R191K exm1513152 19 57867889 [A/G] NM_020657 ZNF304 EXON Missense_D218N exm1513157 19 57867958 [A/G] NM_020657 ZNF304 EXON Missense_S241G exm1953158 19 57868180 [T/G] NM_020657 ZNF304 EXON Missense_A315S exm1513170 19 57868336 [A/G] NM_020657 ZNF304 EXON Missense_K367E exm1513175 19 57868483 [A/G] NM_020657 ZNF304 EXON Missense_A416T exm1513183 19 57868685 [A/C] NM_020657 ZNF304 EXON Missense_A483D exm1513216 19 57888586 [T/C] NM_173631 ZNF547 EXON Missense_L81P exm1513221 19 57888675 [A/G] NM_173631 ZNF547 EXON Missense_E111K exm1953214 19 57888679 [A/G] NM_173631 ZNF547 EXON Missense_Q112R exm1513222 19 57888714 [T/C] NM_173631 ZNF547 EXON Missense_H124Y exm1513225 19 57888766 [T/C] NM_173631 ZNF547 EXON Missense_P141L exm1513226 19 57888793 [A/G] NM_173631 ZNF547 EXON Missense_H150R exm1513243 19 57889044 [G/C] NM_173631 ZNF547 EXON Missense_H234D exm1513244 19 57889072 [A/G] NM_173631 ZNF547 EXON Missense_S243N exm1513252 19 57889186 [G/C] NM_173631 ZNF547 EXON Nonsense_S281X exm1513257 19 57889232 [T/G] NM_173631 ZNF547 EXON Nonsense_Y296X exm1513277 19 57905559 [T/C] NM_001172773,NM_152909 ZNF548,ZNF548 EXON Missense_P7S,Silent exm1513282 19 57909827 [T/G] NM_001172773,NM_152909 ZNF548,ZNF548 EXON Missense_A70S,Missense_A58S exm1513284 19 57909872 [A/G] NM_001172773,NM_152909 ZNF548,ZNF548 EXON Missense_A85T,Missense_A73T exm1513287 19 57909911 [A/G] NM_001172773,NM_152909 ZNF548,ZNF548 EXON Missense_S98G,Missense_S86G exm1513292 19 57910163 [T/C] NM_001172773,NM_152909 ZNF548,ZNF548 EXON Nonsense_Q182X,Nonsense_Q170X exm1513308 19 57910674 [A/G] NM_001172773,NM_152909 ZNF548,ZNF548 EXON Missense_N352S,Missense_N340S exm1513309 19 57910698 [A/G] NM_001172773,NM_152909 ZNF548,ZNF548 EXON Missense_Y360C,Missense_Y348C exm2230272 19 57910751 [C/G] NM_001172773,NM_152909 ZNF548,ZNF548 EXON Missense_E378Q,Missense_E366Q exm1513319 19 57911003 [A/G] NM_001172773,NM_152909 ZNF548,ZNF548 EXON Missense_E462K,Missense_E450K exm1513326 19 57911114 [A/G] NM_001172773,NM_152909 ZNF548,ZNF548 EXON Missense_I499V,Missense_I487V exm1513343 19 57929280 [A/G] NM_006959 ZNF17 EXON Missense_D6N exm1513349 19 57929407 [A/G] NM_006959 ZNF17 Silent exm1513357 19 57931219 [A/G] NM_006959 ZNF17 EXON Missense_H120R exm1513360 19 57931303 [A/C] NM_006959 ZNF17 EXON Missense_T148K exm1513365 19 57931411 [A/G] NM_006959 ZNF17 EXON Missense_Q184R exm1513366 19 57931425 [A/G] NM_006959 ZNF17 EXON Missense_N189D exm1513371 19 57931573 [A/G] NM_006959 ZNF17 EXON Missense_R238Q exm1513372 19 57931575 [A/C] NM_006959 ZNF17 EXON Missense_N239H exm1513381 19 57931689 [A/G] NM_006959 ZNF17 EXON Missense_S277G exm1513389 19 57931830 [C/G] NM_006959 ZNF17 EXON Missense_H324D exm1513413 19 57932491 [A/G] NM_006959 ZNF17 EXON Missense_H544R exm2230273 19 57932571 [T/C] NM_006959 ZNF17 EXON Missense_R571W exm1513420 19 57932712 [A/G] NM_006959 ZNF17 EXON Missense_V618I exm1513425 19 57932751 [A/G] NM_006959 ZNF17 EXON Missense_I631V exm1513426 19 57932763 [T/G] NM_006959 ZNF17 EXON Nonsense_E635X exm1513431 19 57953262 [A/G] NM_001023561 ZNF749 EXON Missense_V9I exm1513438 19 57954808 [T/C] NM_001023561 ZNF749 EXON Missense_H98Y exm1513440 19 57954817 [A/G] NM_001023561 ZNF749 EXON Missense_E101K exm1513447 19 57954955 [A/G] NM_001023561 ZNF749 EXON Missense_V147M exm1513451 19 57955046 [A/G] NM_001023561 ZNF749 EXON Nonsense_W177X exm1513458 19 57955184 [G/C] NM_001023561 ZNF749 EXON Missense_P223R exm1513464 19 57955244 [A/G] NM_001023561 ZNF749 EXON Missense_Q243R exm1953291 19 57955668 [A/C] NM_001023561 ZNF749 EXON Nonsense_C384X exm1513483 19 57955700 [T/C] NM_001023561 ZNF749 EXON Missense_S395F exm1513485 19 57955729 [A/G] NM_001023561 ZNF749 EXON Missense_A405T exm1513504 19 57956015 [A/G] NM_001023561 ZNF749 EXON Missense_G500D exm1513509 19 57956131 [A/G] NM_001023561 ZNF749 EXON Missense_K539E exm1513514 19 57956186 [T/C] NM_001023561 ZNF749 EXON Missense_V557A exm1513527 19 57956642 [T/C] NM_001023561 ZNF749 EXON Missense_S709L exm1513529 19 57956715 [G/C] NM_001023561 ZNF749 EXON Missense_F733L exm1513533 19 57956828 [T/G] NM_001023561 ZNF749 EXON Missense_I771R exm1513539 19 57966926 [G/C] NM_020633 VN1R1 EXON Missense_S310C exm1513541 19 57966936 [T/C] NM_020633 VN1R1 EXON Missense_V307M exm1513546 19 57967049 [T/G] NM_020633 VN1R1 EXON Missense_A269D exm1513551 19 57967211 [T/C] NM_020633 VN1R1 EXON Missense_R215K exm1513553 19 57967289 [A/C] NM_020633 VN1R1 EXON Nonsense_L189X exm1513554 19 57967305 [G/C] NM_020633 VN1R1 EXON Missense_A184P exm1513559 19 57967382 [A/G] NM_020633 VN1R1 EXON Missense_M158T exm1513563 19 57967546 [T/C] NM_020633 VN1R1 EXON Missense_I103M exm1513574 19 57967765 [A/C] NM_020633 VN1R1 EXON Missense_N30K exm1513581 19 57984968 [T/C] NM_001144068,NM_001024596 ZNF772,ZNF772 EXON Missense_E341K,Missense_E382K exm1513583 19 57984997 [T/C] NM_001144068,NM_001024596 ZNF772,ZNF772 EXON Missense_H331R,Missense_H372R exm1953311 19 57985009 [T/G] NM_001144068,NM_001024596 ZNF772,ZNF772 EXON Missense_H327P,Missense_H368P exm1953313 19 57985082 [A/G] NM_001144068,NM_001024596 ZNF772,ZNF772 EXON Missense_H303Y,Missense_H344Y exm1513593 19 57985447 [A/C] NM_001144068,NM_001024596 ZNF772,ZNF772 EXON Missense_F181C,Missense_F222C exm1513594 19 57985460 [T/A] NM_001144068,NM_001024596 ZNF772,ZNF772 EXON Missense_M177L,Missense_M218L exm1513601 19 57985566 [C/G] NM_001144068,NM_001024596 ZNF772,ZNF772 EXON Missense_C141W,Missense_C182W exm1513602 19 57985589 [T/C] NM_001144068,NM_001024596 ZNF772,ZNF772 EXON Missense_V134M,Missense_V175M exm1513603 19 57985669 [A/G] NM_001144068,NM_001024596 ZNF772,ZNF772 EXON Missense_T107I,Missense_T148I exm1513604 19 57985702 [A/C] NM_001144068,NM_001024596 ZNF772,ZNF772 EXON Missense_G96V,Missense_G137V exm1513630 19 57988645 [T/C] NM_001144068,NM_001024596 ZNF772,ZNF772 EXON Synonymous_Q11Q,Synonymous_Q11Q exm1513632 19 57988655 [T/C] NM_001144068,NM_001024596 ZNF772,ZNF772 EXON Missense_G8D,Missense_G8D exm1513666 19 58003580 [A/G] NM_001098491,NM_001098493,NM_024691,NM_001098492,NM_001098494,NM_001098495,NM_001098496 ZNF419,ZNF419,ZNF419,ZNF419,ZNF419,ZNF419,ZNF419 Silent,Silent,Silent,Silent,Silent,Silent,Silent exm1513683 19 58004398 [C/G] NM_001098491,NM_001098493,NM_024691,NM_001098492,NM_001098494,NM_001098495,NM_001098496 ZNF419,ZNF419,ZNF419,ZNF419,ZNF419,ZNF419,ZNF419 EXON Missense_S159C,Missense_S145C,Missense_S158C,Missense_S146C,Missense_S126C,Missense_S113C,Missense_S112C exm1513688 19 58004563 [A/G] NM_001098491,NM_001098493,NM_024691,NM_001098492,NM_001098494,NM_001098495,NM_001098496 ZNF419,ZNF419,ZNF419,ZNF419,ZNF419,ZNF419,ZNF419 EXON Missense_G214D,Missense_G200D,Missense_G213D,Missense_G201D,Missense_G181D,Missense_G168D,Missense_G167D exm1513692 19 58004644 [T/G] NM_001098491,NM_001098493,NM_024691,NM_001098492,NM_001098494,NM_001098495,NM_001098496 ZNF419,ZNF419,ZNF419,ZNF419,ZNF419,ZNF419,ZNF419 EXON Missense_F241C,Missense_F227C,Missense_F240C,Missense_F228C,Missense_F208C,Missense_F195C,Missense_F194C exm1513719 19 58005031 [A/G] NM_001098491,NM_001098493,NM_024691,NM_001098492,NM_001098494,NM_001098495,NM_001098496 ZNF419,ZNF419,ZNF419,ZNF419,ZNF419,ZNF419,ZNF419 EXON Missense_R370K,Missense_R356K,Missense_R369K,Missense_R357K,Missense_R337K,Missense_R324K,Missense_R323K exm1513723 19 58005094 [A/G] NM_001098491,NM_001098493,NM_024691,NM_001098492,NM_001098494,NM_001098495,NM_001098496 ZNF419,ZNF419,ZNF419,ZNF419,ZNF419,ZNF419,ZNF419 EXON Missense_Q391R,Missense_Q377R,Missense_Q390R,Missense_Q378R,Missense_Q358R,Missense_Q345R,Missense_Q344R exm1513726 19 58005124 [A/C] NM_001098491,NM_001098493,NM_024691,NM_001098492,NM_001098494,NM_001098495,NM_001098496 ZNF419,ZNF419,ZNF419,ZNF419,ZNF419,ZNF419,ZNF419 EXON Missense_K401T,Missense_K387T,Missense_K400T,Missense_K388T,Missense_K368T,Missense_K355T,Missense_K354T exm1513736 19 58005406 [T/A] NM_001098491,NM_001098493,NM_024691,NM_001098492,NM_001098494,NM_001098495,NM_001098496 ZNF419,ZNF419,ZNF419,ZNF419,ZNF419,ZNF419,ZNF419 EXON Missense_H495L,Missense_H481L,Missense_H494L,Missense_H482L,Missense_H462L,Missense_H449L,Missense_H448L exm1513747 19 58011461 [A/G] NM_198542 ZNF773 EXON Missense_T5A exm1513751 19 58016027 [T/G] NM_198542 ZNF773 EXON Missense_Q12H exm1513768 19 58017753 [A/C] NM_198542 ZNF773 EXON Missense_A97E exm1513770 19 58017758 [C/G] NM_198542 ZNF773 EXON Missense_A99P exm1513771 19 58017768 [T/G] NM_198542 ZNF773 EXON Missense_S102I exm1513773 19 58017779 [A/G] NM_198542 ZNF773 EXON Missense_E106K exm1513774 19 58017782 [A/G] NM_198542 ZNF773 EXON Missense_V107M exm1953374 19 58017977 [G/C] NM_198542 ZNF773 EXON Missense_E172Q exm1513788 19 58018125 [A/G] NM_198542 ZNF773 EXON Missense_C221Y exm1513789 19 58018126 [A/C] NM_198542 ZNF773 EXON Nonsense_C221X exm1513809 19 58018722 [A/G] NM_198542 ZNF773 EXON Missense_C420Y exm1513815 19 58018763 [C/G] NM_198542 ZNF773 EXON Missense_R434G exm2230286 19 58018773 [A/T] NM_198542 ZNF773 EXON Missense_H437L exm1513818 19 58018790 [T/G] NM_198542 ZNF773 EXON Missense_X443G exm1513848 19 58048573 [T/A] NM_153263,NM_001199295 ZNF549,ZNF549 EXON Synonymous_G54G,Synonymous_G67G exm1513850 19 58048625 [A/G] NM_153263,NM_001199295 ZNF549,ZNF549 EXON Missense_A72T,Missense_A85T exm1513853 19 58048709 [T/A] NM_153263,NM_001199295 ZNF549,ZNF549 EXON Missense_M100L,Missense_M113L exm1513856 19 58048748 [T/C] NM_153263,NM_001199295 ZNF549,ZNF549 EXON Missense_L113F,Missense_L126F exm1513857 19 58048770 [T/C] NM_153263,NM_001199295 ZNF549,ZNF549 EXON Missense_T120M,Missense_T133M exm1513860 19 58048910 [T/A] NM_153263,NM_001199295 ZNF549,ZNF549 EXON Missense_N167Y,Missense_N180Y exm1513861 19 58048949 [A/G] NM_153263,NM_001199295 ZNF549,ZNF549 EXON Missense_T180A,Missense_T193A exm1513864 19 58049034 [A/G] NM_153263,NM_001199295 ZNF549,ZNF549 EXON Missense_R208H,Missense_R221H exm1513867 19 58049117 [T/C] NM_153263,NM_001199295 ZNF549,ZNF549 EXON Missense_R236C,Missense_R249C exm1513871 19 58049243 [A/G] NM_153263,NM_001199295 ZNF549,ZNF549 EXON Missense_V278I,Missense_V291I exm1513884 19 58049505 [A/G] NM_153263,NM_001199295 ZNF549,ZNF549 EXON Missense_R365Q,Missense_R378Q exm1513890 19 58049717 [A/G] NM_153263,NM_001199295 ZNF549,ZNF549 EXON Missense_I436V,Missense_I449V exm1513900 19 58049931 [A/G] NM_153263,NM_001199295 ZNF549,ZNF549 EXON Missense_Q507R,Missense_Q520R exm1513903 19 58050006 [T/C] NM_153263,NM_001199295 ZNF549,ZNF549 EXON Missense_L532P,Missense_L545P exm1513904 19 58050032 [A/G] NM_153263,NM_001199295 ZNF549,ZNF549 EXON Missense_E541K,Missense_E554K exm1513905 19 58050044 [T/G] NM_153263,NM_001199295 ZNF549,ZNF549 EXON Nonsense_E545X,Nonsense_E558X exm1513907 19 58050063 [A/G] NM_153263,NM_001199295 ZNF549,ZNF549 EXON Missense_K551R,Missense_K564R exm1513912 19 58058351 [A/G] NM_001039654 ZNF550 EXON Missense_H380Y exm1513915 19 58058432 [T/G] NM_001039654 ZNF550 EXON Missense_T353P exm1513917 19 58058461 [A/G] NM_001039654 ZNF550 EXON Missense_T343M exm1953426 19 58058561 [G/C] NM_001039654 ZNF550 EXON Missense_A310P exm1513931 19 58058717 [A/G] NM_001039654 ZNF550 EXON Missense_R258W exm2254050 19 58058739 [T/C] NM_001039654 ZNF550 EXON Synonymous_Q250Q exm1513935 19 58058770 [T/C] NM_001039654 ZNF550 EXON Missense_H240R exm1513940 19 58058830 [G/C] NM_001039654 ZNF550 EXON Missense_C220S exm1513946 19 58058924 [T/G] NM_001039654 ZNF550 EXON Missense_P189T exm1513947 19 58058957 [T/C] NM_001039654 ZNF550 EXON Missense_V178I exm1513952 19 58059032 [T/C] NM_001039654 ZNF550 EXON Missense_A153T exm1513954 19 58059115 [T/C] NM_001039654 ZNF550 EXON Missense_D125G exm1513956 19 58059181 [A/G] NM_001039654 ZNF550 EXON Missense_T103I exm1513958 19 58059187 [A/G] NM_001039654 ZNF550 EXON Missense_P101L exm1513963 19 58059289 [T/C] NM_001039654 ZNF550 EXON Missense_R67Q exm1513971 19 58067641 [A/G] NM_001039654 ZNF550 EXON Nonsense_R29X exm1513974 19 58067664 [T/G] NM_001039654 ZNF550 EXON Missense_D21A exm1513975 19 58067680 [T/C] NM_001039654 ZNF550 EXON Missense_E16K exm1513977 19 58067703 [A/G] NM_001039654 ZNF550 EXON Missense_V8A exm1514006 19 58084031 [T/C] NM_017879 ZNF416 EXON Missense_Q414R exm1953456 19 58084509 [T/A] NM_017879 ZNF416 EXON Missense_C255S exm1514017 19 58084588 [C/G] NM_017879 ZNF416 EXON Missense_H228Q exm1514018 19 58084593 [T/G] NM_017879 ZNF416 EXON Missense_K227Q exm1514024 19 58084731 [C/G] NM_017879 ZNF416 EXON Missense_L181V exm1514025 19 58084772 [A/G] NM_017879 ZNF416 EXON Missense_S167L exm1514031 19 58084871 [A/G] NM_017879 ZNF416 EXON Missense_A134V exm1514032 19 58084875 [A/G] NM_017879 ZNF416 EXON Missense_C133R exm1514034 19 58084911 [T/C] NM_017879 ZNF416 EXON Missense_D121N exm1514036 19 58084966 [A/C] NM_017879 ZNF416 EXON Missense_K102N exm1514052 19 58089438 [A/G] NM_017879 ZNF416 EXON Missense_M21T exm1514056 19 58090040 [T/C] NM_017879 ZNF416 EXON Synonymous_S11S exm1514069 19 58099976 [T/C] NM_001010879 ZIK1 EXON Nonsense_Q48X exm1514073 19 58101389 [A/T] NM_001010879 ZIK1 EXON Missense_H70Q exm1514074 19 58101408 [A/C] NM_001010879 ZIK1 EXON Missense_T77P exm1514075 19 58101421 [A/G] NM_001010879 ZIK1 EXON Missense_Q81R exm1514080 19 58101655 [T/C] NM_001010879 ZIK1 EXON Missense_L159P exm1953476 19 58101675 [C/G] NM_001010879 ZIK1 EXON Missense_P166A exm1514082 19 58101681 [T/C] NM_001010879 ZIK1 EXON Missense_R168C exm1953477 19 58101790 [T/C] NM_001010879 ZIK1 EXON Missense_I204T exm1514089 19 58101879 [A/G] NM_001010879 ZIK1 EXON Missense_T234A exm1514092 19 58101957 [A/G] NM_001010879 ZIK1 EXON Missense_V260I exm1514098 19 58102050 [A/G] NM_001010879 ZIK1 EXON Missense_G291R exm1514113 19 58102455 [T/C] NM_001010879 ZIK1 EXON Missense_R426W exm1514114 19 58102456 [A/G] NM_001010879 ZIK1 EXON Missense_R426Q exm1514128 19 58115733 [A/G] NM_020880 ZNF530 EXON Missense_R40H exm1514130 19 58115735 [A/G] NM_020880 ZNF530 EXON Missense_D41N exm1514136 19 58117083 [A/G] NM_020880 ZNF530 EXON Missense_T64A exm1514137 19 58117099 [C/G] NM_020880 ZNF530 EXON Missense_S69T exm1514138 19 58117114 [A/C] NM_020880 ZNF530 EXON Missense_E74A exm1514142 19 58117223 [A/T] NM_020880 ZNF530 EXON Missense_H110Q exm1514143 19 58117225 [A/C] NM_020880 ZNF530 EXON Missense_A111D exm1514148 19 58117399 [T/C] NM_020880 ZNF530 EXON Missense_T169M exm1514150 19 58117404 [C/G] NM_020880 ZNF530 EXON Missense_G171R exm1514152 19 58117413 [A/G] NM_020880 ZNF530 EXON Missense_G174R exm1514154 19 58117467 [A/G] NM_020880 ZNF530 EXON Missense_I192V exm1514159 19 58117599 [G/C] NM_020880 ZNF530 EXON Missense_E236Q exm1514163 19 58117677 [A/G] NM_020880 ZNF530 EXON Missense_G262S exm1514173 19 58117836 [T/C] NM_020880 ZNF530 EXON Nonsense_R315X exm1953500 19 58118016 [A/G] NM_020880 ZNF530 EXON Missense_G375R exm2230291 19 58118200 [A/T] NM_020880 ZNF530 EXON Missense_E436V exm1514191 19 58118371 [A/G] NM_020880 ZNF530 EXON Missense_C493Y exm1514194 19 58118418 [T/C] NM_020880 ZNF530 EXON Missense_H509Y exm1514202 19 58118499 [T/C] NM_020880 ZNF530 EXON Nonsense_Q536X exm1514209 19 58118598 [T/C] NM_020880 ZNF530 EXON Missense_H569Y exm1514214 19 58131576 [T/C] NM_003435 ZNF134 EXON Missense_I30T exm2230293 19 58131587 [G/C] NM_003435 ZNF134 EXON Missense_V34L exm1514216 19 58131588 [T/G] NM_003435 ZNF134 EXON Missense_V34G exm2254051 19 58131622 [T/C] NM_003435 ZNF134 EXON Synonymous_P45P exm1514218 19 58131623 [A/G] NM_003435 ZNF134 EXON Missense_A46T exm1514223 19 58131669 [T/A] NM_003435 ZNF134 EXON Missense_D61V exm1514226 19 58131799 [A/C] NM_003435 ZNF134 EXON Missense_Q104H exm1514227 19 58131812 [A/G] NM_003435 ZNF134 EXON Missense_D109N exm1953514 19 58131878 [C/G] NM_003435 ZNF134 EXON Missense_P131A exm1514232 19 58131885 [T/C] NM_003435 ZNF134 EXON Missense_T133M exm1953516 19 58131896 [A/G] NM_003435 ZNF134 EXON Missense_E137K exm1514235 19 58131915 [G/C] NM_003435 ZNF134 EXON Missense_A143G exm1514239 19 58132007 [A/G] NM_003435 ZNF134 EXON Missense_M174V exm1514251 19 58132106 [A/C] NM_003435 ZNF134 EXON Missense_S207R exm1514260 19 58132193 [A/G] NM_003435 ZNF134 EXON Missense_E236K exm1514261 19 58132212 [A/G] NM_003435 ZNF134 EXON Missense_S242N exm1514281 19 58132730 [G/C] NM_003435 ZNF134 EXON Missense_L415V exm1514282 19 58132734 [A/G] NM_003435 ZNF134 EXON Missense_N416S exm1514283 19 58132766 [T/C] NM_003435 ZNF134 EXON Missense_L427F exm1514291 19 58144740 [T/C] NM_001265597,NM_006385,NM_001265600,NR_049754,NM_001265598,NM_198855,NM_001265599,NR_049752,NR_049753 ZNF211,ZNF211,ZNF211,ZNF211,ZNF211,ZNF211,ZNF211,ZNF211,ZNF211 EXON Missense_P9L,Missense_P9L,Silent,Silent,Missense_P9L,Missense_P9L,Silent,Silent,Silent exm1514293 19 58144754 [T/C] NM_001265597,NM_006385,NM_001265600,NR_049754,NM_001265598,NM_198855,NM_001265599,NR_049752,NR_049753 ZNF211,ZNF211,ZNF211,ZNF211,ZNF211,ZNF211,ZNF211,ZNF211,ZNF211 EXON Nonsense_Q14X,Nonsense_Q14X,Silent,Silent,Nonsense_Q14X,Nonsense_Q14X,Silent,Silent,Silent exm1514306 19 58146112 [T/C] NM_001265597,NM_006385,NM_001265600,NR_049754,NM_001265598,NM_198855,NM_001265599,NR_049752,NR_049753 ZNF211,ZNF211,ZNF211,ZNF211,ZNF211,ZNF211,ZNF211,ZNF211,ZNF211 EXON Missense_T82M,Missense_T82M,Missense_T8M,Silent,Missense_T69M,Missense_T69M,Missense_T8M,Silent,Silent exm-IND19-62843150 19 58151339 [D/I] NM_001265597,NM_006385,NM_001265600,NR_049754,NM_001265598,NM_198855,NM_001265599,NR_049752,NR_049753 ZNF211,ZNF211,ZNF211,ZNF211,ZNF211,ZNF211,ZNF211,ZNF211,ZNF211 EXON exm1514317 19 58152182 [A/G] NM_001265597,NM_006385,NM_001265600,NR_049754,NM_001265598,NM_198855,NM_001265599,NR_049752,NR_049753 ZNF211,ZNF211,ZNF211,ZNF211,ZNF211,ZNF211,ZNF211,ZNF211,ZNF211 EXON Missense_D175N,Missense_D123N,Missense_D49N,Silent,Missense_D162N,Missense_D110N,Missense_D101N,Silent,Silent exm1514325 19 58152329 [A/G] NM_001265597,NM_006385,NM_001265600,NR_049754,NM_001265598,NM_198855,NM_001265599,NR_049752,NR_049753 ZNF211,ZNF211,ZNF211,ZNF211,ZNF211,ZNF211,ZNF211,ZNF211,ZNF211 EXON Missense_T224A,Missense_T172A,Missense_T98A,Silent,Missense_T211A,Missense_T159A,Missense_T150A,Silent,Silent exm1514331 19 58152467 [A/G] NM_001265597,NM_006385,NM_001265600,NR_049754,NM_001265598,NM_198855,NM_001265599,NR_049752,NR_049753 ZNF211,ZNF211,ZNF211,ZNF211,ZNF211,ZNF211,ZNF211,ZNF211,ZNF211 EXON Missense_A270T,Missense_A218T,Missense_A144T,Silent,Missense_A257T,Missense_A205T,Missense_A196T,Silent,Silent exm1514334 19 58152510 [T/C] NM_001265597,NM_006385,NM_001265600,NR_049754,NM_001265598,NM_198855,NM_001265599,NR_049752,NR_049753 ZNF211,ZNF211,ZNF211,ZNF211,ZNF211,ZNF211,ZNF211,ZNF211,ZNF211 EXON Missense_A284V,Missense_A232V,Missense_A158V,Silent,Missense_A271V,Missense_A219V,Missense_A210V,Silent,Silent exm1514343 19 58152795 [T/C] NM_001265597,NM_006385,NM_001265600,NR_049754,NM_001265598,NM_198855,NM_001265599,NR_049752,NR_049753 ZNF211,ZNF211,ZNF211,ZNF211,ZNF211,ZNF211,ZNF211,ZNF211,ZNF211 EXON Missense_A379V,Missense_A327V,Missense_A253V,Silent,Missense_A366V,Missense_A314V,Missense_A305V,Silent,Silent exm1514349 19 58152933 [A/G] NM_001265597,NM_006385,NM_001265600,NR_049754,NM_001265598,NM_198855,NM_001265599,NR_049752,NR_049753 ZNF211,ZNF211,ZNF211,ZNF211,ZNF211,ZNF211,ZNF211,ZNF211,ZNF211 EXON Missense_R425H,Missense_R373H,Missense_R299H,Silent,Missense_R412H,Missense_R360H,Missense_R351H,Silent,Silent exm1514350 19 58152936 [A/G] NM_001265597,NM_006385,NM_001265600,NR_049754,NM_001265598,NM_198855,NM_001265599,NR_049752,NR_049753 ZNF211,ZNF211,ZNF211,ZNF211,ZNF211,ZNF211,ZNF211,ZNF211,ZNF211 EXON Missense_R426K,Missense_R374K,Missense_R300K,Silent,Missense_R413K,Missense_R361K,Missense_R352K,Silent,Silent exm1514354 19 58152970 [G/C] NM_001265597,NM_006385,NM_001265600,NR_049754,NM_001265598,NM_198855,NM_001265599,NR_049752,NR_049753 ZNF211,ZNF211,ZNF211,ZNF211,ZNF211,ZNF211,ZNF211,ZNF211,ZNF211 EXON Missense_S437R,Missense_S385R,Missense_S311R,Silent,Missense_S424R,Missense_S372R,Missense_S363R,Silent,Silent exm1514362 19 58153185 [A/G] NM_001265597,NM_006385,NM_001265600,NR_049754,NM_001265598,NM_198855,NM_001265599,NR_049752,NR_049753 ZNF211,ZNF211,ZNF211,ZNF211,ZNF211,ZNF211,ZNF211,ZNF211,ZNF211 EXON Missense_R509Q,Missense_R457Q,Missense_R383Q,Silent,Missense_R496Q,Missense_R444Q,Missense_R435Q,Silent,Silent exm1514373 19 58153436 [T/C] NM_001265597,NM_006385,NM_001265600,NR_049754,NM_001265598,NM_198855,NM_001265599,NR_049752,NR_049753 ZNF211,ZNF211,ZNF211,ZNF211,ZNF211,ZNF211,ZNF211,ZNF211,ZNF211 EXON Missense_R593C,Missense_R541C,Missense_R467C,Silent,Missense_R580C,Missense_R528C,Missense_R519C,Silent,Silent exm1514374 19 58153449 [T/C] NM_001265597,NM_006385,NM_001265600,NR_049754,NM_001265598,NM_198855,NM_001265599,NR_049752,NR_049753 ZNF211,ZNF211,ZNF211,ZNF211,ZNF211,ZNF211,ZNF211,ZNF211,ZNF211 EXON Missense_T597M,Missense_T545M,Missense_T471M,Silent,Missense_T584M,Missense_T532M,Missense_T523M,Silent,Silent exm1514375 19 58153465 [A/T] NM_001265597,NM_006385,NM_001265600,NR_049754,NM_001265598,NM_198855,NM_001265599,NR_049752,NR_049753 ZNF211,ZNF211,ZNF211,ZNF211,ZNF211,ZNF211,ZNF211,ZNF211,ZNF211 EXON Nonsense_Y602X,Nonsense_Y550X,Nonsense_Y476X,Silent,Nonsense_Y589X,Nonsense_Y537X,Nonsense_Y528X,Silent,Silent exm1514380 19 58153533 [T/C] NM_001265597,NM_006385,NM_001265600,NR_049754,NM_001265598,NM_198855,NM_001265599,NR_049752,NR_049753 ZNF211,ZNF211,ZNF211,ZNF211,ZNF211,ZNF211,ZNF211,ZNF211,ZNF211 EXON Missense_I625T,Missense_I573T,Missense_I499T,Silent,Missense_I612T,Missense_I560T,Missense_I551T,Silent,Silent exm1514396 19 58187698 [A/T] NM_152677 ZSCAN4 EXON Nonsense_L62X exm1514408 19 58189545 [A/G] NM_152677 ZSCAN4 EXON Missense_E192K exm1514411 19 58189605 [T/C] NM_152677 ZSCAN4 EXON Nonsense_Q212X exm1514413 19 58189707 [C/G] NM_152677 ZSCAN4 EXON Missense_A246P exm1514415 19 58189759 [T/C] NM_152677 ZSCAN4 EXON Missense_F263S exm1514417 19 58189823 [G/C] NM_152677 ZSCAN4 EXON Missense_E284D exm1514432 19 58190130 [A/G] NM_152677 ZSCAN4 EXON Missense_E387K exm1514440 19 58196753 [T/G] NM_138347,NM_001270938,NR_073102 ZNF551,ZNF551,ZNF551 EXON Missense_G69C,Missense_G41C,Silent exm1514449 19 58197953 [A/C] NM_138347,NM_001270938,NR_073102 ZNF551,ZNF551,ZNF551 EXON Missense_S104R,Missense_S76R,Silent exm1514458 19 58198215 [T/C] NM_138347,NM_001270938,NR_073102 ZNF551,ZNF551,ZNF551 EXON Missense_T191M,Missense_T163M,Silent exm1514462 19 58198232 [A/G] NM_138347,NM_001270938,NR_073102 ZNF551,ZNF551,ZNF551 EXON Missense_E197K,Missense_E169K,Silent exm1514463 19 58198263 [G/C] NM_138347,NM_001270938,NR_073102 ZNF551,ZNF551,ZNF551 EXON Missense_S207T,Missense_S179T,Silent exm1514464 19 58198296 [A/G] NM_138347,NM_001270938,NR_073102 ZNF551,ZNF551,ZNF551 EXON Missense_N218S,Missense_N190S,Silent exm1953563 19 58198460 [T/C] NM_138347,NM_001270938,NR_073102 ZNF551,ZNF551,ZNF551 EXON Missense_H273Y,Missense_H245Y,Silent exm1514482 19 58198610 [A/G] NM_138347,NM_001270938,NR_073102 ZNF551,ZNF551,ZNF551 EXON Missense_I323V,Missense_I295V,Silent exm1514484 19 58198643 [T/C] NM_138347,NM_001270938,NR_073102 ZNF551,ZNF551,ZNF551 EXON Missense_R334C,Missense_R306C,Silent exm1514495 19 58198829 [T/G] NM_138347,NM_001270938,NR_073102 ZNF551,ZNF551,ZNF551 EXON Missense_C396G,Missense_C368G,Silent exm1514499 19 58199039 [T/C] NM_138347,NM_001270938,NR_073102 ZNF551,ZNF551,ZNF551 EXON Missense_R466C,Missense_R438C,Silent exm1514519 19 58199483 [A/C] NM_138347,NM_001270938,NR_073102 ZNF551,ZNF551,ZNF551 EXON Missense_P614T,Missense_P586T,Silent exm1514527 19 58199628 [A/G] NM_138347,NM_001270938,NR_073102 ZNF551,ZNF551,ZNF551 EXON Missense_R662Q,Missense_R634Q,Silent exm1514559 19 58213007 [T/C] NM_001085384 ZNF154 EXON Missense_R437Q exm1514560 19 58213055 [A/G] NM_001085384 ZNF154 EXON Missense_S421F exm2254054 19 58213078 [A/G] NM_001085384 ZNF154 EXON Synonymous_Y413Y exm1514565 19 58213166 [A/G] NM_001085384 ZNF154 EXON Missense_P384L exm1514575 19 58213404 [T/C] NM_001085384 ZNF154 EXON Missense_E305K exm1514587 19 58213610 [T/C] NM_001085384 ZNF154 EXON Missense_R236Q exm1514593 19 58213742 [T/C] NM_001085384 ZNF154 EXON Missense_R192Q exm1514594 19 58213743 [A/G] NM_001085384 ZNF154 EXON Nonsense_R192X exm1514596 19 58213773 [C/G] NM_001085384 ZNF154 EXON Missense_L182V exm1514597 19 58213826 [T/C] NM_001085384 ZNF154 EXON Missense_S164N exm1514600 19 58213847 [A/G] NM_001085384 ZNF154 EXON Missense_T157I exm1514603 19 58213952 [A/C] NM_001085384 ZNF154 EXON Missense_G122V exm1514604 19 58213953 [T/C] NM_001085384 ZNF154 EXON Missense_G122S exm1514610 19 58214147 [T/C] NM_001085384 ZNF154 EXON Missense_H57R exm1514622 19 58231890 [T/G] NM_024833 ZNF671 EXON Missense_L522I exm1514635 19 58232220 [A/G] NM_024833 ZNF671 EXON Missense_L412F exm1514638 19 58232246 [T/C] NM_024833 ZNF671 EXON Missense_G403E exm1514641 19 58232265 [A/G] NM_024833 ZNF671 EXON Missense_Y397H exm1514646 19 58232363 [A/G] NM_024833 ZNF671 EXON Missense_T364M exm1514655 19 58232550 [A/G] NM_024833 ZNF671 EXON Missense_R302W exm1514658 19 58232781 [G/C] NM_024833 ZNF671 EXON Missense_G225R exm1514664 19 58233008 [A/G] NM_024833 ZNF671 EXON Missense_A149V exm2254055 19 58233733 [T/C] NM_024833 ZNF671 EXON Synonymous_V113V exm1514670 19 58233736 [G/C] NM_024833 ZNF671 EXON Missense_Q112H exm1514679 19 58234669 [A/G] NM_024833 ZNF671 EXON Missense_R60W exm2268239 19 58263999 [A/G] NM_173632 ZNF776 Silent exm1953616 19 58264688 [T/C] NM_173632 ZNF776 EXON Missense_P64S exm1514700 19 58264736 [T/C] NM_173632 ZNF776 EXON Missense_H80Y exm1514704 19 58264908 [T/C] NM_173632 ZNF776 EXON Missense_I137T exm1514742 19 58265777 [A/G] NM_173632 ZNF776 EXON Missense_T427A exm2230309 19 58265865 [T/G] NM_173632 ZNF776 EXON Missense_G456V exm2230310 19 58265867 [T/G] NM_173632 ZNF776 EXON Nonsense_E457X exm2230311 19 58265872 [T/G] NM_173632 ZNF776 EXON Missense_R458S exm2230313 19 58265885 [A/G] NM_173632 ZNF776 EXON Missense_G463R exm2230314 19 58265915 [T/G] NM_173632 ZNF776 EXON Missense_G473C exm2230315 19 58265916 [T/G] NM_173632 ZNF776 EXON Missense_G473V exm1514763 19 58290301 [T/C] NM_017652,NM_001077426,NM_001204814 ZNF586,ZNF586,ZNF586 EXON Missense_R116C,Synonymous_F73F,Missense_R73C exm1514771 19 58290569 [A/G] NM_017652,NM_001077426,NM_001204814 ZNF586,ZNF586,ZNF586 EXON Missense_R205H,Missense_V163I,Missense_R162H exm1514773 19 58290651 [A/G] NM_017652,NM_001077426,NM_001204814 ZNF586,ZNF586,ZNF586 EXON Synonymous_R232R,Missense_G190D,Synonymous_R189R exm1514780 19 58290808 [T/A] NM_017652,NM_001077426,NM_001204814 ZNF586,ZNF586,ZNF586 EXON Missense_T285S,Silent,Missense_T242S exm1514781 19 58290811 [A/G] NM_017652,NM_001077426,NM_001204814 ZNF586,ZNF586,ZNF586 EXON Missense_R286G,Silent,Missense_R243G exm1514787 19 58290884 [A/G] NM_017652,NM_001077426,NM_001204814 ZNF586,ZNF586,ZNF586 EXON Missense_R310Q,Silent,Missense_R267Q exm1514796 19 58291082 [T/C] NM_017652,NM_001077426,NM_001204814 ZNF586,ZNF586,ZNF586 EXON Missense_I376T,Silent,Missense_I333T exm1953651 19 58291158 [A/T] NM_017652,NM_001077426,NM_001204814 ZNF586,ZNF586,ZNF586 EXON Nonsense_Y401X,Silent,Nonsense_Y358X exm1514821 19 58319826 [A/G] NM_024762 ZNF552 EXON Missense_T269M exm1514825 19 58319926 [T/C] NM_024762 ZNF552 EXON Missense_T236A exm1514829 19 58320058 [T/A] NM_024762 ZNF552 EXON Missense_T192S exm1514861 19 58352661 [T/A] NM_001204818 ZNF587B EXON Missense_F207I exm1514865 19 58353003 [A/G] NM_001204818 ZNF587B EXON Missense_A321T exm1514992 19 58385289 [A/C] NM_001144989 ZNF814 EXON Missense_R490I exm1515013 19 58386018 [A/C] NM_001144989 ZNF814 EXON Missense_C247F exm1515018 19 58386148 [A/C] NM_001144989 ZNF814 EXON Missense_V204L exm1515078 19 58420680 [G/C] NM_152475 ZNF417 EXON Missense_R322S exm1515105 19 58421111 [T/C] NM_152475 ZNF417 EXON Missense_V179I exm2254057 19 58421127 [A/G] NM_152475 ZNF417 EXON Synonymous_R173R exm2230327 19 58421473 [A/C] NM_152475 ZNF417 EXON Missense_C58F exm1515134 19 58437524 [T/G] NM_133460 ZNF418 EXON Nonsense_Y675X exm1515135 19 58437550 [T/C] NM_133460 ZNF418 EXON Missense_R667G exm1515136 19 58437559 [A/G] NM_133460 ZNF418 EXON Nonsense_R664X exm1515137 19 58437573 [T/C] NM_133460 ZNF418 EXON Missense_S659N exm1515139 19 58437577 [A/G] NM_133460 ZNF418 EXON Nonsense_R658X exm1515147 19 58437735 [A/G] NM_133460 ZNF418 EXON Missense_A605V exm1953747 19 58437754 [T/A] NM_133460 ZNF418 EXON Missense_T599S exm1515150 19 58437767 [A/C] NM_133460 ZNF418 EXON Missense_R594S exm1515153 19 58437793 [T/C] NM_133460 ZNF418 EXON Missense_T586A exm1515161 19 58437963 [T/C] NM_133460 ZNF418 EXON Missense_R529Q exm1515163 19 58437970 [A/G] NM_133460 ZNF418 EXON Nonsense_R527X exm1515166 19 58438023 [A/G] NM_133460 ZNF418 EXON Missense_P509L exm1953753 19 58438116 [T/C] NM_133460 ZNF418 EXON Missense_G478E exm1515172 19 58438138 [T/C] NM_133460 ZNF418 EXON Missense_E471K exm1515174 19 58438149 [A/G] NM_133460 ZNF418 EXON Missense_S467F exm1515181 19 58438239 [T/C] NM_133460 ZNF418 EXON Missense_R437Q exm1515184 19 58438300 [A/G] NM_133460 ZNF418 EXON Nonsense_Q417X exm1953757 19 58438451 [A/G] NM_133460 ZNF418 EXON Synonymous_S366S exm1515189 19 58438456 [A/T] NM_133460 ZNF418 EXON Missense_T365S exm1515190 19 58438464 [T/C] NM_133460 ZNF418 EXON Missense_R362Q exm1515191 19 58438515 [T/C] NM_133460 ZNF418 EXON Missense_E345G exm2230329 19 58438537 [T/C] NM_133460 ZNF418 EXON Missense_G338R exm1515215 19 58438950 [A/T] NM_133460 ZNF418 EXON Missense_D200V exm1515216 19 58439004 [G/C] NM_133460 ZNF418 EXON Missense_T182S exm1515217 19 58439020 [C/G] NM_133460 ZNF418 EXON Missense_Q177E exm1515222 19 58439159 [C/G] NM_133460 ZNF418 EXON Missense_Q130H exm1515229 19 58439362 [T/C] NM_133460 ZNF418 EXON Missense_I63V exm1953772 19 58441801 [G/C] NM_133460 ZNF418 EXON Missense_S43C exm1515232 19 58441806 [T/C] NM_133460 ZNF418 EXON Missense_I41M exm1953787 19 58452393 [A/G] NM_005773 ZNF256 EXON Nonsense_R595X exm1515244 19 58452470 [T/C] NM_005773 ZNF256 EXON Missense_H569R exm1515253 19 58452599 [T/G] NM_005773 ZNF256 EXON Missense_K526T exm1515257 19 58452693 [T/C] NM_005773 ZNF256 EXON Missense_E495K exm1515261 19 58452759 [T/C] NM_005773 ZNF256 EXON Missense_T473A exm1515264 19 58452818 [T/C] NM_005773 ZNF256 EXON Missense_H453R exm1515274 19 58453056 [T/C] NM_005773 ZNF256 EXON Missense_T374A exm1515283 19 58453242 [T/C] NM_005773 ZNF256 EXON Missense_I312V exm1515285 19 58453248 [A/G] NM_005773 ZNF256 EXON Missense_L310F exm1515296 19 58453505 [T/G] NM_005773 ZNF256 EXON Missense_H224P exm1515306 19 58453949 [T/G] NM_005773 ZNF256 EXON Missense_Q76P exm1515307 19 58453958 [T/C] NM_005773 ZNF256 EXON Missense_R73Q exm1515309 19 58453986 [A/G] NM_005773 ZNF256 EXON Missense_P64S exm1515311 19 58453998 [T/C] NM_005773 ZNF256 EXON Missense_D60N exm1515312 19 58455311 [T/C] NM_005773 ZNF256 EXON Missense_T51A exm1515313 19 58455352 [G/C] NM_005773 ZNF256 EXON Missense_C37S exm1515322 19 58469996 [A/G] NM_152474 C19orf18 EXON Missense_H208Y exm1515324 19 58470020 [C/G] NM_152474 C19orf18 EXON Missense_E200Q exm1515331 19 58472884 [T/G] NM_152474 C19orf18 EXON Missense_E136A exm1515339 19 58477914 [A/T] NM_152474 C19orf18 EXON Missense_I119F exm1515341 19 58477955 [A/G] NM_152474 C19orf18 EXON Missense_S105L exm1515345 19 58483860 [A/G] NM_152474 C19orf18 EXON Missense_T80M exm1515367 19 58489736 [T/C] NM_025027 ZNF606 EXON Missense_K771R exm1515375 19 58489953 [A/G] NM_025027 ZNF606 EXON Missense_R699W exm1515392 19 58490521 [C/G] NM_025027 ZNF606 EXON Missense_E509D exm1515402 19 58490769 [A/G] NM_025027 ZNF606 EXON Missense_P427S exm1515407 19 58490898 [T/C] NM_025027 ZNF606 EXON Missense_D384N exm1515410 19 58490999 [T/C] NM_025027 ZNF606 EXON Missense_Y350C exm1515415 19 58491140 [T/C] NM_025027 ZNF606 EXON Missense_H303R exm1515417 19 58491149 [T/C] NM_025027 ZNF606 EXON Missense_H300R exm1515428 19 58491461 [T/C] NM_025027 ZNF606 EXON Missense_Q196R exm1515434 19 58491627 [T/C] NM_025027 ZNF606 EXON Missense_S141G exm1515452 19 58511235 [T/C] NM_025027 ZNF606 EXON Missense_V40M exm1515455 19 58512079 [G/C] NM_025027 ZNF606 EXON Missense_M20I exm1515456 19 58512098 [A/G] NM_025027 ZNF606 EXON Missense_T14M exm1515459 19 58512659 [A/C] NM_025027 ZNF606 EXON Missense_W10L exm1515473 19 58549301 [A/G] NM_182572 ZSCAN1 EXON Missense_D33N exm1515477 19 58549337 [T/C] NM_182572 ZSCAN1 EXON Nonsense_Q45X exm1515489 19 58549511 [T/C] NM_182572 ZSCAN1 EXON Missense_P103S exm1515496 19 58551836 [T/C] NM_182572 ZSCAN1 EXON Missense_S130L exm1515504 19 58551868 [A/G] NM_182572 ZSCAN1 EXON Missense_E141K exm1515516 19 58563979 [A/G] NM_182572 ZSCAN1 EXON Missense_R196H exm1515518 19 58564809 [A/G] NM_182572 ZSCAN1 EXON Missense_R206H exm1515531 19 58565052 [A/G] NM_182572 ZSCAN1 EXON Missense_R287Q exm1515542 19 58565178 [T/C] NM_182572 ZSCAN1 EXON Missense_F329S exm1515543 19 58565179 [A/C] NM_182572 ZSCAN1 EXON Missense_F329L exm1515544 19 58565184 [A/C] NM_182572 ZSCAN1 EXON Missense_H331P exm2230337 19 58565408 [A/G] NM_182572 ZSCAN1 EXON Missense_G406S exm1515572 19 58571371 [T/A] NM_003436,NM_001164527,NM_001164529,NM_007134,NM_001164530 ZNF135,ZNF135,ZNF135,ZNF135,ZNF135 EXON Missense_M1L,Silent,Silent,Silent,Silent exm1515579 19 58572979 [A/G] NM_003436,NM_001164527,NM_001164529,NM_007134,NM_001164530 ZNF135,ZNF135,ZNF135,ZNF135,ZNF135 EXON Missense_G22D,Missense_G34D,Missense_G34D,Missense_G34D,Missense_G34D exm1515580 19 58573063 [T/C] NM_003436,NM_001164527,NM_001164529,NM_007134,NM_001164530 ZNF135,ZNF135,ZNF135,ZNF135,ZNF135 EXON Missense_L50P,Missense_L62P,Missense_L62P,Missense_L62P,Missense_L62P exm1515584 19 58574832 [T/C] NM_003436,NM_001164527,NM_001164529,NM_007134,NM_001164530 ZNF135,ZNF135,ZNF135,ZNF135,ZNF135 EXON Missense_P60L,Missense_P72L,Missense_P72L,Missense_P72L,Missense_P72L exm1515585 19 58574835 [A/G] NM_003436,NM_001164527,NM_001164529,NM_007134,NM_001164530 ZNF135,ZNF135,ZNF135,ZNF135,ZNF135 EXON Missense_N61S,Missense_N73S,Missense_N73S,Missense_N73S,Missense_N73S exm1515599 19 58578295 [G/C] NM_003436,NM_001164529,NM_007134,NM_001164530 ZNF135,ZNF135,ZNF135,ZNF135 EXON Missense_A160G,Silent,Missense_A172G,Missense_A160G exm1515600 19 58578314 [A/G] NM_003436,NM_001164529,NM_007134,NM_001164530 ZNF135,ZNF135,ZNF135,ZNF135 EXON Synonymous_T166T,Silent,Synonymous_T178T,Synonymous_T166T exm2254059 19 58578314 [A/G] NM_003436,NM_001164529,NM_007134,NM_001164530 ZNF135,ZNF135,ZNF135,ZNF135 EXON Synonymous_T166T,Silent,Synonymous_T178T,Synonymous_T166T exm1515605 19 58578429 [T/C] NM_003436,NM_001164529,NM_007134,NM_001164530 ZNF135,ZNF135,ZNF135,ZNF135 EXON Missense_R205C,Silent,Missense_R217C,Missense_R205C exm1515608 19 58578441 [T/G] NM_003436,NM_001164529,NM_007134,NM_001164530 ZNF135,ZNF135,ZNF135,ZNF135 EXON Nonsense_E209X,Silent,Nonsense_E221X,Nonsense_E209X exm1515612 19 58578530 [A/C] NM_003436,NM_001164529,NM_007134,NM_001164530 ZNF135,ZNF135,ZNF135,ZNF135 EXON Missense_S238R,Silent,Missense_S250R,Missense_S238R exm1515615 19 58578556 [T/C] NM_003436,NM_001164529,NM_007134,NM_001164530 ZNF135,ZNF135,ZNF135,ZNF135 EXON Missense_T247M,Silent,Missense_T259M,Missense_T247M exm1515617 19 58578586 [A/C] NM_003436,NM_001164529,NM_007134,NM_001164530 ZNF135,ZNF135,ZNF135,ZNF135 EXON Missense_H257P,Silent,Missense_H269P,Missense_H257P exm1515619 19 58578616 [T/C] NM_003436,NM_001164529,NM_007134,NM_001164530 ZNF135,ZNF135,ZNF135,ZNF135 EXON Missense_S267L,Silent,Missense_S279L,Missense_S267L exm1515626 19 58578801 [A/G] NM_003436,NM_001164529,NM_007134,NM_001164530 ZNF135,ZNF135,ZNF135,ZNF135 EXON Missense_E329K,Silent,Missense_E341K,Missense_E329K exm1515631 19 58578858 [T/C] NM_003436,NM_001164529,NM_007134,NM_001164530 ZNF135,ZNF135,ZNF135,ZNF135 EXON Missense_R348W,Silent,Missense_R360W,Missense_R348W exm1515641 19 58579104 [A/G] NM_003436,NM_001164529,NM_007134,NM_001164530 ZNF135,ZNF135,ZNF135,ZNF135 EXON Missense_A430T,Silent,Missense_A442T,Silent exm1515653 19 58579308 [T/C] NM_003436,NM_001164529,NM_007134,NM_001164530 ZNF135,ZNF135,ZNF135,ZNF135 EXON Nonsense_R498X,Silent,Nonsense_R510X,Silent exm1953887 19 58579309 [A/G] NM_003436,NM_001164529,NM_007134,NM_001164530 ZNF135,ZNF135,ZNF135,ZNF135 EXON Missense_R498Q,Silent,Missense_R510Q,Silent exm1515705 19 58596165 [T/C] NM_023926,NM_001145542,NM_001145543,NM_001145544 ZSCAN18,ZSCAN18,ZSCAN18,ZSCAN18 EXON Missense_A474T,Missense_A530T,Missense_A474T,Missense_A338T exm1515715 19 58596338 [T/C] NM_023926,NM_001145542,NM_001145543,NM_001145544 ZSCAN18,ZSCAN18,ZSCAN18,ZSCAN18 EXON Missense_G416D,Missense_G472D,Missense_G416D,Missense_G280D exm1515721 19 58596449 [T/C] NM_023926,NM_001145542,NM_001145543,NM_001145544 ZSCAN18,ZSCAN18,ZSCAN18,ZSCAN18 EXON Missense_G379E,Missense_G435E,Missense_G379E,Missense_G243E exm1515743 19 58596723 [T/C] NM_023926,NM_001145542,NM_001145543,NM_001145544 ZSCAN18,ZSCAN18,ZSCAN18,ZSCAN18 EXON Missense_A288T,Missense_A344T,Missense_A288T,Missense_A152T exm1515745 19 58597543 [A/G] NM_023926,NM_001145542,NM_001145543,NM_001145544 ZSCAN18,ZSCAN18,ZSCAN18,ZSCAN18 EXON Missense_P279L,Missense_P335L,Missense_P279L,Missense_P144L exm1953898 19 58597580 [A/G] NM_023926,NM_001145542,NM_001145543,NM_001145544 ZSCAN18,ZSCAN18,ZSCAN18,ZSCAN18 EXON Missense_R267W,Missense_R323W,Missense_R267W,Missense_R132W exm1515757 19 58598716 [G/C] NM_023926,NM_001145542,NM_001145543,NM_001145544 ZSCAN18,ZSCAN18,ZSCAN18,ZSCAN18 EXON Missense_K203N,Missense_K259N,Missense_K203N,Missense_K68N exm1515760 19 58598759 [A/G] NM_023926,NM_001145542,NM_001145543,NM_001145544 ZSCAN18,ZSCAN18,ZSCAN18,ZSCAN18 EXON Missense_P189L,Missense_P245L,Missense_P189L,Missense_P54L exm1515795 19 58601570 [A/G] NM_023926,NM_001145542,NM_001145543,NM_001145544 ZSCAN18,ZSCAN18,ZSCAN18,ZSCAN18 EXON Missense_T22M,Missense_T78M,Missense_T22M,Silent exm1515801 19 58601645 [T/C] NM_023926,NM_001145542,NM_001145543,NM_001145544 ZSCAN18,ZSCAN18,ZSCAN18,ZSCAN18 EXON Silent,Missense_R53H,Silent,Silent exm1515803 19 58601718 [C/G] NM_023926,NM_001145542,NM_001145543,NM_001145544 ZSCAN18,ZSCAN18,ZSCAN18,ZSCAN18 EXON Silent,Missense_H29D,Silent,Silent exm1515809 19 58639289 [A/G] NM_024620 ZNF329 EXON Nonsense_R528X exm1515811 19 58639331 [A/G] NM_024620 ZNF329 EXON Missense_P514S exm1515842 19 58640284 [T/C] NM_024620 ZNF329 EXON Missense_N196S exm1515844 19 58640327 [T/C] NM_024620 ZNF329 EXON Missense_N182D exm1515846 19 58640350 [A/G] NM_024620 ZNF329 EXON Missense_S174L exm1515851 19 58640479 [T/C] NM_024620 ZNF329 EXON Missense_H131R exm1515866 19 58640747 [T/G] NM_024620 ZNF329 EXON Missense_N42H exm1515910 19 58718140 [A/C] NM_016324,NM_133502,NM_016325 ZNF274,ZNF274,ZNF274 EXON Silent,Missense_P104T,Missense_P72T exm1515914 19 58718249 [T/C] NM_016324,NM_133502,NM_016325 ZNF274,ZNF274,ZNF274 EXON Missense_A35V,Missense_A140V,Missense_A108V exm1515916 19 58718269 [A/G] NM_016324,NM_133502,NM_016325 ZNF274,ZNF274,ZNF274 EXON Missense_V42I,Missense_V147I,Missense_V115I exm1515917 19 58718279 [A/G] NM_016324,NM_133502,NM_016325 ZNF274,ZNF274,ZNF274 EXON Missense_Q45R,Missense_Q150R,Missense_Q118R exm1515918 19 58718332 [T/C] NM_016324,NM_133502,NM_016325 ZNF274,ZNF274,ZNF274 EXON Missense_R63C,Missense_R168C,Missense_R136C exm1515925 19 58718498 [A/G] NM_016324,NM_133502,NM_016325 ZNF274,ZNF274,ZNF274 EXON Missense_R118H,Missense_R223H,Missense_R191H exm1515929 19 58721349 [T/C] NM_016324,NM_133502,NM_016325 ZNF274,ZNF274,ZNF274 EXON Missense_P149L,Missense_P254L,Missense_P222L exm1515939 19 58723645 [A/G] NM_016324,NM_133502,NM_016325 ZNF274,ZNF274,ZNF274 EXON Missense_H261R,Missense_H366R,Missense_H334R exm1515940 19 58723663 [A/G] NM_016324,NM_133502,NM_016325 ZNF274,ZNF274,ZNF274 EXON Missense_R267K,Missense_R372K,Missense_R340K exm1515943 19 58723706 [G/C] NM_016324,NM_133502,NM_016325 ZNF274,ZNF274,ZNF274 EXON Missense_W281C,Missense_W386C,Missense_W354C exm1515948 19 58723785 [A/C] NM_016324,NM_133502,NM_016325 ZNF274,ZNF274,ZNF274 EXON Missense_T308P,Missense_T413P,Missense_T381P exm1515949 19 58723800 [T/C] NM_016324,NM_133502,NM_016325 ZNF274,ZNF274,ZNF274 EXON Missense_R313C,Missense_R418C,Missense_R386C exm1515954 19 58723818 [A/G] NM_016324,NM_133502,NM_016325 ZNF274,ZNF274,ZNF274 EXON Missense_T319A,Missense_T424A,Missense_T392A exm1515955 19 58723821 [G/C] NM_016324,NM_133502,NM_016325 ZNF274,ZNF274,ZNF274 EXON Missense_L320V,Missense_L425V,Missense_L393V exm1515956 19 58723843 [T/C] NM_016324,NM_133502,NM_016325 ZNF274,ZNF274,ZNF274 EXON Missense_A327V,Missense_A432V,Missense_A400V exm1515957 19 58723866 [T/C] NM_016324,NM_133502,NM_016325 ZNF274,ZNF274,ZNF274 EXON Missense_C335R,Missense_C440R,Missense_C408R exm1515962 19 58724019 [A/G] NM_016324,NM_133502,NM_016325 ZNF274,ZNF274,ZNF274 EXON Missense_V386I,Missense_V491I,Missense_V459I exm1515964 19 58724044 [T/A] NM_016324,NM_133502,NM_016325 ZNF274,ZNF274,ZNF274 EXON Missense_E394V,Missense_E499V,Missense_E467V exm1515972 19 58724380 [A/G] NM_016324,NM_133502,NM_016325 ZNF274,ZNF274,ZNF274 EXON Missense_G506E,Missense_G611E,Missense_G579E exm1953971 19 58755399 [T/C] NM_014480 ZNF544 EXON Missense_R4C exm1515976 19 58755406 [T/C] NM_014480 ZNF544 EXON Missense_M6T exm1515985 19 58757770 [T/C] NM_014480 ZNF544 EXON Missense_T46I exm1515988 19 58758161 [A/G] NM_014480 ZNF544 Silent exm-rs260461 19 58770883 [A/G] NM_014480 ZNF544 Silent exm1515993 19 58772240 [A/C] NM_014480 ZNF544 EXON Missense_N90H exm1515994 19 58772262 [T/A] NM_014480 ZNF544 EXON Missense_D97V exm1515999 19 58772321 [A/C] NM_014480 ZNF544 EXON Missense_P117T exm1516001 19 58772444 [A/G] NM_014480 ZNF544 EXON Missense_E158K exm1516002 19 58772484 [T/C] NM_014480 ZNF544 EXON Missense_L171S exm1516003 19 58772510 [A/G] NM_014480 ZNF544 EXON Missense_T180A exm1516005 19 58772579 [C/G] NM_014480 ZNF544 EXON Missense_H203D exm1516009 19 58772640 [C/G] NM_014480 ZNF544 EXON Missense_C223S exm1516011 19 58772706 [T/C] NM_014480 ZNF544 EXON Missense_I245T exm1516020 19 58772917 [A/C] NM_014480 ZNF544 EXON Missense_Q315H exm1516024 19 58773014 [T/C] NM_014480 ZNF544 EXON Nonsense_Q348X exm1516026 19 58773053 [A/G] NM_014480 ZNF544 EXON Missense_K361E exm1516030 19 58773129 [T/G] NM_014480 ZNF544 EXON Missense_G386V exm1516035 19 58773257 [A/G] NM_014480 ZNF544 EXON Missense_I429V exm1516038 19 58773339 [T/G] NM_014480 ZNF544 EXON Missense_R456I exm1516045 19 58773384 [A/T] NM_014480 ZNF544 EXON Missense_K471M exm1516058 19 58773591 [A/G] NM_014480 ZNF544 EXON Missense_R540Q exm1516062 19 58773612 [T/C] NM_014480 ZNF544 EXON Missense_P547L exm1516070 19 58773815 [T/C] NM_014480 ZNF544 EXON Nonsense_R615X exm1516071 19 58773816 [A/G] NM_014480 ZNF544 EXON Missense_R615Q exm1516072 19 58773831 [T/C] NM_014480 ZNF544 EXON Missense_I620T exm1516076 19 58773869 [A/G] NM_014480 ZNF544 EXON Missense_K633E exm1516077 19 58773876 [A/G] NM_014480 ZNF544 EXON Missense_N635S exm1516079 19 58773938 [C/G] NM_014480 ZNF544 EXON Missense_G656R exm1516080 19 58773939 [A/G] NM_014480 ZNF544 EXON Missense_G656D exm1516085 19 58774064 [T/C] NM_014480 ZNF544 EXON Missense_R698W exm1516087 19 58774071 [A/G] NM_014480 ZNF544 EXON Missense_Q700R exm1516089 19 58774094 [T/C] NM_014480 ZNF544 EXON Missense_R708W exm2272810 19 58780503 [T/C] exm-IND19-63482887 19 58791076 [I/D] NM_021089 ZNF8 exm1516101 19 58797098 [T/C] NM_021089 ZNF8 EXON Missense_R28W exm1516110 19 58805464 [T/C] NM_021089 ZNF8 EXON Missense_A97V exm1516111 19 58805496 [T/C] NM_021089 ZNF8 EXON Missense_R108C exm1516112 19 58805508 [A/G] NM_021089 ZNF8 EXON Missense_G112S exm1954011 19 58805539 [T/C] NM_021089 ZNF8 EXON Missense_T122M exm1516124 19 58805725 [T/C] NM_021089 ZNF8 EXON Missense_L184P exm1516125 19 58805742 [A/C] NM_021089 ZNF8 EXON Missense_P190T exm1516128 19 58805784 [A/G] NM_021089 ZNF8 EXON Missense_D204N exm1516132 19 58805859 [A/G] NM_021089 ZNF8 EXON Missense_G229S exm1516134 19 58805874 [T/C] NM_021089 ZNF8 EXON Missense_C234R exm1516157 19 58806433 [T/C] NM_021089 ZNF8 EXON Missense_A420V exm1516159 19 58806445 [T/C] NM_021089 ZNF8 EXON Missense_P424L exm1516164 19 58806559 [A/G] NM_021089 ZNF8 EXON Missense_R462Q exm1516172 19 58806666 [T/C] NM_021089 ZNF8 EXON Nonsense_R498X exm2230348 19 58806678 [T/C] NM_021089 ZNF8 EXON Missense_R502C exm1516178 19 58806703 [T/C] NM_021089 ZNF8 EXON Missense_S510L exm1516180 19 58806727 [T/C] NM_021089 ZNF8 EXON Missense_P518L exm1516183 19 58806774 [A/G] NM_021089 ZNF8 EXON Missense_E534K exm1516188 19 58806874 [T/C] NM_021089 ZNF8 EXON Missense_M567T exm1516213 19 58846211 [A/G] NM_181846 ZSCAN22 EXON Missense_E15K exm1516217 19 58846306 [C/G] NM_181846 ZSCAN22 EXON Missense_E46D exm1516220 19 58846338 [A/G] NM_181846 ZSCAN22 EXON Missense_Y57C exm1516230 19 58846370 [A/G] NM_181846 ZSCAN22 EXON Missense_A68T exm1516231 19 58846383 [T/C] NM_181846 ZSCAN22 EXON Missense_A72V exm1516236 19 58846554 [A/T] NM_181846 ZSCAN22 EXON Missense_Q129L exm1516237 19 58846556 [A/G] NM_181846 ZSCAN22 EXON Missense_V130M exm1516243 19 58849703 [A/G] NM_181846 ZSCAN22 EXON Missense_T163A exm2254061 19 58849894 [A/G] NM_181846 ZSCAN22 EXON Synonymous_S226S exm1516259 19 58849964 [C/G] NM_181846 ZSCAN22 EXON Missense_L250V exm1516261 19 58849985 [C/G] NM_181846 ZSCAN22 EXON Missense_E257Q exm1516263 19 58850058 [T/C] NM_181846 ZSCAN22 EXON Missense_S281L exm1516279 19 58850333 [T/G] NM_181846 ZSCAN22 EXON Missense_V373L exm1516294 19 58850567 [T/C] NM_181846 ZSCAN22 EXON Missense_L451F exm1516298 19 58850642 [A/T] NM_181846 ZSCAN22 EXON Missense_S476C exm1516318 19 58861808 [A/G] NM_130786 A1BG EXON Missense_C374R exm1516323 19 58861838 [T/C] NM_130786 A1BG EXON Missense_I364V exm1516337 19 58862835 [T/G] NM_130786 A1BG EXON Missense_T278P exm1516345 19 58862937 [A/G] NM_130786 A1BG EXON Missense_R244W exm1516353 19 58863753 [A/G] NM_130786,NR_015380 A1BG,A1BG-AS1 EXON Missense_A170V,Silent exm1516368 19 58864359 [T/C] NM_130786,NR_015380 A1BG,A1BG-AS1 EXON Missense_R92H,Silent exm1516369 19 58864366 [A/G] NM_130786,NR_015380 A1BG,A1BG-AS1 EXON Missense_R90C,Silent exm1516376 19 58864476 [A/G] NM_130786,NR_015380 A1BG,A1BG-AS1 EXON Missense_L53P,Silent exm1516377 19 58864479 [T/C] NM_130786,NR_015380 A1BG,A1BG-AS1 EXON Missense_H52R,Silent exm1516380 19 58864491 [A/G] NM_130786,NR_015380 A1BG,A1BG-AS1 EXON Missense_T48M,Silent exm1516386 19 58864657 [A/C] NM_130786,NR_015380 A1BG,A1BG-AS1 Silent,Silent exm1516408 19 58867567 [A/G] NM_001207009,NM_198458 ZNF497,ZNF497 EXON Missense_F479L,Missense_F479L exm1954072 19 58867597 [A/G] NM_001207009,NM_198458 ZNF497,ZNF497 EXON Missense_P469S,Missense_P469S exm1516412 19 58867644 [A/C] NM_001207009,NM_198458 ZNF497,ZNF497 EXON Missense_R453L,Missense_R453L exm1516445 19 58868337 [T/G] NM_001207009,NM_198458 ZNF497,ZNF497 EXON Missense_E222A,Missense_E222A exm1516459 19 58868480 [T/G] NM_001207009,NM_198458 ZNF497,ZNF497 EXON Missense_H174Q,Missense_H174Q exm1516476 19 58868830 [T/G] NM_001207009,NM_198458 ZNF497,ZNF497 EXON Missense_Q58K,Missense_Q58K exm1516483 19 58868962 [T/C] NM_001207009,NM_198458 ZNF497,ZNF497 EXON Missense_E14K,Missense_E14K exm1516486 19 58879118 [A/G] NM_138466,NR_049780 ZNF837,ZNF837 EXON Missense_R528C,Silent exm2254062 19 58879368 [T/C] NM_138466,NR_049780 ZNF837,ZNF837 EXON Synonymous_E444E,Silent exm1516501 19 58879976 [T/C] NM_138466,NR_049780 ZNF837,ZNF837 EXON Missense_A242T,Silent exm1516510 19 58880242 [T/C] NM_138466,NR_049780 ZNF837,ZNF837 EXON Missense_Q153R,Silent exm2254063 19 58899342 [A/G] NM_001009 RPS5 Silent exm1516536 19 58904511 [A/G] NM_001009 RPS5 EXON Missense_V93I exm1516558 19 58907700 [A/G] NM_001195135 LOC646862 EXON Missense_D82N exm2254064 19 58921310 [T/G] NM_173548 ZNF584 EXON Synonymous_A7A exm1516567 19 58921324 [G/C] NM_173548 ZNF584 EXON Nonsense_S12X exm1516570 19 58921357 [T/C] NM_173548 ZNF584 EXON Missense_T23M exm1516575 19 58926921 [T/C] NM_173548 ZNF584 EXON Missense_T67I exm1516587 19 58928211 [T/A] NM_173548 ZNF584 EXON Missense_H109L exm1516588 19 58928219 [T/C] NM_173548 ZNF584 EXON Missense_H112Y exm2254065 19 58928257 [T/C] NM_173548 ZNF584 EXON Synonymous_T124T exm1516607 19 58928642 [T/C] NM_173548 ZNF584 EXON Missense_R253C exm1516614 19 58928786 [A/G] NM_173548 ZNF584 EXON Missense_T301A exm1516632 19 58944778 [T/G] NM_003433 ZNF132 EXON Missense_T678N exm1516638 19 58944852 [A/C] NM_003433 ZNF132 EXON Missense_R653S exm1516644 19 58945088 [C/G] NM_003433 ZNF132 EXON Missense_E575Q exm1516664 19 58945385 [A/G] NM_003433 ZNF132 EXON Nonsense_R476X exm1516672 19 58945486 [T/C] NM_003433 ZNF132 EXON Missense_N442S exm1516684 19 58945781 [T/C] NM_003433 ZNF132 EXON Missense_E344K exm1516686 19 58945825 [T/C] NM_003433 ZNF132 EXON Missense_N329S exm2230360 19 58945844 [A/C] NM_003433 ZNF132 EXON Missense_A323S exm1516690 19 58945865 [T/C] NM_003433 ZNF132 EXON Missense_V316I exm1516691 19 58945948 [A/T] NM_003433 ZNF132 EXON Missense_E288V exm1516696 19 58946030 [G/C] NM_003433 ZNF132 EXON Missense_E261Q exm1516697 19 58946056 [A/G] NM_003433 ZNF132 EXON Missense_P252L exm1516703 19 58946138 [T/G] NM_003433 ZNF132 EXON Missense_Q225K exm1516707 19 58946203 [T/C] NM_003433 ZNF132 EXON Missense_G203D exm1954133 19 58946280 [A/G] NM_003433 ZNF132 EXON Synonymous_D177D exm1516718 19 58946555 [T/C] NM_003433 ZNF132 EXON Missense_E86K exm1516724 19 58948435 [C/G] NM_003433 ZNF132 EXON Missense_L71V exm2260890 19 58952327 [A/G] exm1516753 19 58965147 [T/C] NM_207395 ZNF324B EXON Missense_R27C exm1516760 19 58965660 [A/G] NM_207395 ZNF324B EXON Missense_S63G exm1516772 19 58966735 [A/G] NM_207395 ZNF324B EXON Missense_I142V exm1516785 19 58967017 [A/G] NM_207395 ZNF324B EXON Missense_G236S exm1516816 19 58967858 [T/C] NM_207395 ZNF324B EXON Missense_T516I exm2275127 19 58967878 [A/C] NM_207395 ZNF324B EXON Missense_Q523K exm1954169 19 58967939 [A/T] NM_207395 ZNF324B EXON Missense_K543M exm1516828 19 58980631 [T/C] NM_014347 ZNF324 EXON Missense_R27C exm1516839 19 58981184 [A/G] NM_014347 ZNF324 EXON Missense_R71G exm1516841 19 58982131 [T/C] NM_014347 ZNF324 EXON Missense_S91F exm1516849 19 58982241 [A/G] NM_014347 ZNF324 EXON Missense_A128T exm1516856 19 58982352 [T/C] NM_014347 ZNF324 EXON Missense_P165S exm1516859 19 58982364 [T/C] NM_014347 ZNF324 EXON Missense_P169S exm1516867 19 58982496 [A/C] NM_014347 ZNF324 EXON Missense_L213M exm1516911 19 58983448 [G/C] NM_014347 ZNF324 EXON Missense_G530A exm1954203 19 58983457 [G/C] NM_014347 ZNF324 EXON Missense_A533G exm1516915 19 58983493 [T/C] NM_014347 ZNF324 EXON Missense_A545V exm1516943 19 58989014 [A/G] NM_017908 ZNF446 EXON Missense_H118R exm1516947 19 58989065 [T/G] NM_017908 ZNF446 EXON Missense_L135R exm1516950 19 58989083 [T/C] NM_017908 ZNF446 EXON Missense_S141L exm1516954 19 58989192 [A/G] NM_017908 ZNF446 EXON Synonymous_V177V exm1516962 19 58991032 [A/G] NM_017908 ZNF446 EXON Missense_R217Q exm1516972 19 58991354 [T/C] NM_017908 ZNF446 EXON Missense_T257M exm1516987 19 58991710 [A/C] NM_017908 ZNF446 EXON Missense_P324T exm1516988 19 58991723 [T/C] NM_017908 ZNF446 EXON Missense_P328L exm1516990 19 58991743 [A/G] NM_017908 ZNF446 EXON Missense_E335K exm1517005 19 58991900 [A/G] NM_017908 ZNF446 EXON Missense_R387H exm1517006 19 58991917 [T/C] NM_017908 ZNF446 EXON Missense_R393W exm1517010 19 58991980 [T/C] NM_017908 ZNF446 EXON Missense_R414C exm2230366 19 58992001 [T/C] NM_017908 ZNF446 EXON Missense_R421W exm1517011 19 58992002 [A/G] NM_017908 ZNF446 EXON Missense_R421Q exm1517012 19 58992029 [A/G] NM_017908 ZNF446 EXON Missense_R430H exm1517015 19 58992063 [C/G] NM_017908 ZNF446 EXON Missense_H441Q exm1517018 19 58992080 [T/C] NM_017908 ZNF446 EXON Missense_P447L exm1517023 19 59009949 [C/G] NM_012254 SLC27A5 EXON Missense_A669G exm1517046 19 59010910 [A/G] NM_012254 SLC27A5 EXON Missense_M539T exm1517067 19 59012027 [T/C] NM_012254 SLC27A5 EXON Missense_G410E exm1517070 19 59012060 [T/C] NM_012254 SLC27A5 EXON Missense_R399Q exm1517072 19 59012675 [T/C] NM_012254 SLC27A5 EXON Missense_R387Q exm1954250 19 59021241 [T/C] NM_012254 SLC27A5 EXON Missense_V344I exm1517079 19 59021337 [T/C] NM_012254 SLC27A5 EXON Missense_V312I exm1517092 19 59022291 [T/C] NM_012254 SLC27A5 EXON Missense_R232Q exm1517096 19 59022799 [A/G] NM_012254 SLC27A5 EXON Missense_T175I exm1517098 19 59022823 [A/G] NM_012254 SLC27A5 EXON Missense_A167V exm1517102 19 59022956 [A/G] NM_012254 SLC27A5 EXON Nonsense_R123X exm1517106 19 59022995 [A/G] NM_012254 SLC27A5 EXON Missense_R110W exm1517111 19 59023060 [A/G] NM_012254 SLC27A5 EXON Missense_P88L exm1517117 19 59023166 [A/G] NM_012254 SLC27A5 EXON Missense_R53W exm1517118 19 59023174 [A/G] NM_012254 SLC27A5 EXON Missense_M50T exm1954263 19 59023213 [A/C] NM_012254 SLC27A5 EXON Missense_L37R exm1517140 19 59027815 [T/C] NM_032792 ZBTB45 EXON Missense_R409H exm1517141 19 59027860 [T/C] NM_032792 ZBTB45 EXON Missense_R394H exm1517153 19 59028008 [A/G] NM_032792 ZBTB45 EXON Missense_P345S exm1517160 19 59028088 [T/C] NM_032792 ZBTB45 EXON Missense_R318H exm1517161 19 59028095 [T/C] NM_032792 ZBTB45 EXON Missense_G316R exm2254069 19 59028111 [A/G] NM_032792 ZBTB45 EXON Synonymous_P310P exm1517176 19 59028220 [T/C] NM_032792 ZBTB45 EXON Missense_R274Q exm1517209 19 59028671 [A/G] NM_032792 ZBTB45 EXON Missense_R124C exm1517211 19 59028685 [A/G] NM_032792 ZBTB45 EXON Missense_T119M exm1517243 19 59056881 [A/C] NM_005762 TRIM28 EXON Missense_T144P exm1517255 19 59058964 [A/G] NM_005762 TRIM28 EXON Synonymous_Q241Q exm1517273 19 59059519 [A/C] NM_005762 TRIM28 EXON Missense_N358T exm1517281 19 59059894 [T/C] NM_005762 TRIM28 EXON Missense_P420S exm1517283 19 59059921 [A/C] NM_005762 TRIM28 EXON Missense_P429T exm1517308 19 59060734 [A/G] NM_005762 TRIM28 EXON Missense_T567A exm1517336 19 59061392 [T/C] NM_005762 TRIM28 EXON Missense_T728I exm1517344 19 59061795 [T/C] NM_005762 TRIM28 EXON Missense_R795C exm1517354 19 59063075 [T/C] NM_198426,NM_014453 CHMP2A,CHMP2A EXON Missense_A204T,Missense_A204T exm1517363 19 59063324 [T/C] NM_198426,NM_014453 CHMP2A,CHMP2A EXON Missense_V164M,Missense_V164M exm1517416 19 59073495 [C/G] NR_027334,NM_001267033,NM_003422,NM_198055 LOC100131691,MZF1,MZF1,MZF1 EXON Silent,Silent,Missense_R717G,Missense_R717G exm1517432 19 59073740 [G/C] NR_027334,NM_001267033,NM_003422,NM_198055 LOC100131691,MZF1,MZF1,MZF1 EXON Silent,Silent,Missense_T635R,Missense_T635R exm1517437 19 59073801 [A/G] NR_027334,NM_001267033,NM_003422,NM_198055 LOC100131691,MZF1,MZF1,MZF1 EXON Silent,Silent,Missense_H615Y,Missense_H615Y exm2254072 19 59073871 [A/G] NR_027334,NM_001267033,NM_003422,NM_198055 LOC100131691,MZF1,MZF1,MZF1 EXON Silent,Silent,Synonymous_H591H,Synonymous_H591H exm1517451 19 59074133 [T/A] NR_027334,NM_001267033,NM_003422,NM_198055 LOC100131691,MZF1,MZF1,MZF1 EXON Silent,Silent,Missense_Q504L,Missense_Q504L exm1517461 19 59074322 [C/G] NR_027334,NM_001267033,NM_003422,NM_198055 LOC100131691,MZF1,MZF1,MZF1 EXON Silent,Silent,Missense_R441P,Missense_R441P exm1517473 19 59074607 [A/G] NR_027334,NM_001267033,NM_003422,NM_198055 LOC100131691,MZF1,MZF1,MZF1 EXON Silent,Missense_P265S,Missense_P346L,Missense_P346L exm1517478 19 59074653 [T/C] NR_027334,NM_001267033,NM_003422,NM_198055 LOC100131691,MZF1,MZF1,MZF1 EXON Silent,Silent,Missense_I331V,Missense_I331V exm1517487 19 59074706 [C/G] NR_027334,NM_001267033,NM_003422,NM_198055 LOC100131691,MZF1,MZF1,MZF1 EXON Silent,Silent,Missense_S313T,Missense_S313T exm1517488 19 59074712 [A/C] NR_027334,NM_001267033,NM_003422,NM_198055 LOC100131691,MZF1,MZF1,MZF1 EXON Silent,Silent,Missense_L311R,Missense_L311R exm1517492 19 59074775 [A/C] NR_027334,NM_001267033,NM_003422,NM_198055 LOC100131691,MZF1,MZF1,MZF1 EXON Silent,Silent,Missense_G290V,Missense_G290V exm2230377 19 59074866 [T/C] NR_027334,NM_001267033,NM_003422,NM_198055 LOC100131691,MZF1,MZF1,MZF1 EXON Silent,Silent,Missense_A260T,Missense_A260T exm1517503 19 59080710 [T/C] NR_027334,NM_001267033,NM_003422,NM_198055 LOC100131691,MZF1,MZF1,MZF1 EXON Silent,Missense_G236S,Missense_G236S,Missense_G236S exm1517508 19 59080887 [T/G] NR_027334,NM_001267033,NM_003422,NM_198055 LOC100131691,MZF1,MZF1,MZF1 EXON Silent,Missense_A216D,Missense_A216D,Missense_A216D exm1517516 19 59081806 [G/C] NR_027334,NM_001267033,NM_003422,NM_198055 LOC100131691,MZF1,MZF1,MZF1 EXON Silent,Missense_T162S,Missense_T162S,Missense_T162S exm1517519 19 59082361 [T/C] NR_027334,NM_001267033,NM_003422,NM_198055 LOC100131691,MZF1,MZF1,MZF1 EXON Silent,Nonsense_W132X,Nonsense_W132X,Nonsense_W132X exm1517520 19 59082368 [T/C] NR_027334,NM_001267033,NM_003422,NM_198055 LOC100131691,MZF1,MZF1,MZF1 EXON Silent,Missense_R130Q,Missense_R130Q,Missense_R130Q exm1517522 19 59082375 [T/C] NR_027334,NM_001267033,NM_003422,NM_198055 LOC100131691,MZF1,MZF1,MZF1 EXON Silent,Missense_G128R,Missense_G128R,Missense_G128R exm1954394 19 59082512 [T/C] NR_027334,NM_001267033,NM_003422,NM_198055 LOC100131691,MZF1,MZF1,MZF1 EXON Silent,Missense_Q82R,Missense_Q82R,Missense_Q82R exm1517532 19 59082525 [A/G] NR_027334,NM_001267033,NM_003422,NM_198055 LOC100131691,MZF1,MZF1,MZF1 EXON Silent,Missense_R78C,Missense_R78C,Missense_R78C exm1517538 19 59082605 [T/C] NR_027334,NM_001267033,NM_003422,NM_198055 LOC100131691,MZF1,MZF1,MZF1 EXON Silent,Missense_R51H,Missense_R51H,Missense_R51H exm1517548 19 59082708 [T/C] NR_027334,NM_001267033,NM_003422,NM_198055 LOC100131691,MZF1,MZF1,MZF1 EXON Silent,Missense_E17K,Missense_E17K,Missense_E17K exm1517549 19 59082725 [T/C] NR_027334,NM_001267033,NM_003422,NM_198055 LOC100131691,MZF1,MZF1,MZF1 EXON Silent,Missense_R11Q,Missense_R11Q,Missense_R11Q exm-rs11542478 2 38938 [A/C] NM_001077710 FAM110C EXON Silent exm169223 2 45611 [T/C] NM_001077710 FAM110C EXON Missense_G259S exm-rs300774 2 112496 [A/C] exm2265292 2 193882 [A/G] exm169248 2 218992 [T/C] NM_015677,NM_001159597 SH3YL1,SH3YL1 EXON Missense_N311S,Missense_N292S exm169253 2 224897 [A/G] NM_015677,NM_001159597 SH3YL1,SH3YL1 EXON Missense_Y297H,Silent exm169254 2 224919 [A/G] NM_015677,NM_001159597 SH3YL1,SH3YL1 EXON Synonymous_S289S,Silent exm169256 2 229986 [T/C] NM_015677,NM_001159597 SH3YL1,SH3YL1 EXON Missense_Q282R,Missense_Q282R exm169257 2 230045 [T/C] NM_015677,NM_001159597 SH3YL1,SH3YL1 Silent,Silent exm2237479 2 247601 [T/G] NM_015677,NM_001159597 SH3YL1,SH3YL1 EXON Missense_K104N,Missense_K104N exm169311 2 264985 [T/G] NM_007099,NR_024080,NM_004300,NM_001040649 ACP1,ACP1,ACP1,ACP1 EXON Missense_K7N,Silent,Missense_K7N,Missense_K7N exm169332 2 272146 [A/G] NM_007099,NR_024080,NM_004300,NM_001040649 ACP1,ACP1,ACP1,ACP1 EXON Silent,Silent,Missense_R76Q,Missense_R76Q exm169334 2 272155 [T/C] NM_007099,NR_024080,NM_004300,NM_001040649 ACP1,ACP1,ACP1,ACP1 EXON Silent,Silent,Silent,Missense_P79L exm169335 2 272203 [T/C] NM_007099,NR_024080,NM_004300,NM_001040649 ACP1,ACP1,ACP1,ACP1 EXON Synonymous_D43D,Silent,Silent,Missense_T95I exm169348 2 277003 [A/G] NM_007099,NR_024080,NM_004300 ACP1,ACP1,ACP1 EXON Missense_Q106R,Silent,Missense_Q106R exm-rs4643574 2 315215 [A/G] exm-rs2724863 2 477364 [A/G] exm-rs2947411 2 614168 [A/G] exm-rs2867125 2 622827 [T/C] exm-rs6548238 2 634905 [T/C] exm-rs7561317 2 644953 [A/G] exm169382 2 669801 [T/C] NM_152834 TMEM18 EXON Missense_I95V exm2255455 2 669847 [T/C] NM_152834 TMEM18 EXON Synonymous_L79L exm169392 2 672826 [A/G] NM_152834 TMEM18 EXON Missense_A72V exm169394 2 672863 [T/C] NM_152834 TMEM18 Silent exm169402 2 675618 [A/T] NM_152834 TMEM18 EXON Missense_T24S exm169404 2 675626 [A/G] NM_152834 TMEM18 EXON Missense_T21M exm169413 2 677342 [A/G] NM_152834 TMEM18 EXON Missense_P2S exm2265107 2 718744 [A/G] exm169531 2 1079280 [A/C] NM_018968 SNTG2 EXON Missense_E50A exm2276807 2 1093883 [A/G] NM_018968 SNTG2 EXON Missense_R71H exm169542 2 1093923 [T/G] NM_018968 SNTG2 EXON Missense_L84F exm169546 2 1094066 [A/G] NM_018968 SNTG2 EXON Missense_V99I exm169548 2 1094084 [A/G] NM_018968 SNTG2 EXON Missense_E105K exm169549 2 1094096 [A/G] NM_018968 SNTG2 EXON Missense_A109T exm169558 2 1161295 [T/C] NM_018968 SNTG2 EXON Missense_A158V exm169565 2 1168781 [A/C] NM_018968 SNTG2 EXON Missense_S168Y exm169567 2 1168798 [A/G] NM_018968 SNTG2 EXON Missense_D174N exm169573 2 1204808 [T/C] NM_018968 SNTG2 EXON Missense_S204L exm169575 2 1204841 [A/G] NM_018968 SNTG2 EXON Missense_R215H exm169580 2 1204916 [T/G] NM_018968 SNTG2 EXON Missense_R240M exm169583 2 1241691 [A/G] NM_018968 SNTG2 EXON Missense_G251R exm169584 2 1241712 [T/C] NM_018968 SNTG2 EXON Missense_R258W exm169585 2 1241713 [A/G] NM_018968 SNTG2 EXON Missense_R258Q exm1977639 2 1243512 [G/C] NM_018968 SNTG2 EXON Missense_M284I exm169592 2 1251198 [A/G] NM_018968 SNTG2 EXON Missense_V330I exm169593 2 1263163 [T/C] NM_018968 SNTG2 EXON Nonsense_R343X exm169595 2 1263181 [C/G] NM_018968 SNTG2 EXON Missense_H349D exm169597 2 1271185 [T/C] NM_018968 SNTG2 EXON Missense_L376F exm169598 2 1271230 [A/G] NM_018968 SNTG2 EXON Missense_I391V exm169602 2 1271281 [A/G] NM_018968 SNTG2 EXON Missense_E408K exm169603 2 1312289 [T/G] NM_018968 SNTG2 EXON Missense_W436C exm169605 2 1320143 [T/C] NM_018968 SNTG2 EXON Missense_T495M exm2269246 2 1396971 [T/C] exm169619 2 1418188 [T/C] NM_000547,NM_001206744,NM_175719,NM_001206745,NM_175721,NM_175722 TPO,TPO,TPO,TPO,TPO,TPO EXON Missense_A3V,Missense_A3V,Missense_A3V,Missense_A3V,Missense_A3V,Missense_A3V exm2269008 2 1426346 [T/G] NM_000547,NM_001206744,NM_175719,NM_001206745,NM_175721,NM_175722 TPO,TPO,TPO,TPO,TPO,TPO Silent,Silent,Silent,Silent,Silent,Silent exm169651 2 1437238 [C/G] NM_000547,NM_001206744,NM_175719,NM_001206745,NM_175721,NM_175722 TPO,TPO,TPO,TPO,TPO,TPO EXON Missense_P70A,Missense_P70A,Missense_P70A,Missense_P70A,Missense_P70A,Missense_P70A exm169652 2 1437244 [T/C] NM_000547,NM_001206744,NM_175719,NM_001206745,NM_175721,NM_175722 TPO,TPO,TPO,TPO,TPO,TPO EXON Nonsense_Q72X,Nonsense_Q72X,Nonsense_Q72X,Nonsense_Q72X,Nonsense_Q72X,Nonsense_Q72X exm169656 2 1437283 [A/G] NM_000547,NM_001206744,NM_175719,NM_001206745,NM_175721,NM_175722 TPO,TPO,TPO,TPO,TPO,TPO EXON Missense_G85R,Missense_G85R,Missense_G85R,Missense_G85R,Missense_G85R,Missense_G85R exm169673 2 1440078 [A/C] NM_000547,NM_001206744,NM_175719,NM_001206745,NM_175721,NM_175722 TPO,TPO,TPO,TPO,TPO,TPO EXON Missense_P135H,Missense_P135H,Missense_P135H,Missense_P135H,Missense_P135H,Missense_P135H exm169676 2 1457474 [A/C] NM_000547,NM_001206744,NM_175719,NM_001206745,NM_175721,NM_175722 TPO,TPO,TPO,TPO,TPO,TPO EXON Missense_P164H,Missense_P164H,Missense_P164H,Missense_P164H,Missense_P164H,Missense_P164H exm169678 2 1457485 [A/G] NM_000547,NM_001206744,NM_175719,NM_001206745,NM_175721,NM_175722 TPO,TPO,TPO,TPO,TPO,TPO EXON Missense_A168T,Missense_A168T,Missense_A168T,Missense_A168T,Missense_A168T,Missense_A168T exm2236358 2 1457595 [A/G] NM_000547,NM_001206744,NM_175719,NM_001206745,NM_175721,NM_175722 TPO,TPO,TPO,TPO,TPO,TPO EXON Synonymous_P204P,Synonymous_P204P,Synonymous_P204P,Synonymous_P204P,Synonymous_P204P,Synonymous_P204P exm169690 2 1459885 [A/G] NM_000547,NM_001206744,NM_175719,NM_001206745,NM_175721,NM_175722 TPO,TPO,TPO,TPO,TPO,TPO EXON Missense_N217S,Missense_N217S,Missense_N217S,Missense_N217S,Missense_N217S,Missense_N217S exm169693 2 1459909 [A/G] NM_000547,NM_001206744,NM_175719,NM_001206745,NM_175721,NM_175722 TPO,TPO,TPO,TPO,TPO,TPO EXON Missense_R225H,Missense_R225H,Missense_R225H,Missense_R225H,Missense_R225H,Missense_R225H exm169699 2 1460004 [T/G] NM_000547,NM_001206744,NM_175719,NM_001206745,NM_175721,NM_175722 TPO,TPO,TPO,TPO,TPO,TPO EXON Missense_A257S,Missense_A257S,Missense_A257S,Missense_A257S,Missense_A257S,Missense_A257S exm2236359 2 1460032 [A/G] NM_000547,NM_001206744,NM_175719,NM_001206745,NM_175721,NM_175722 TPO,TPO,TPO,TPO,TPO,TPO EXON Missense_Q266R,Missense_Q266R,Missense_Q266R,Missense_Q266R,Missense_Q266R,Missense_Q266R exm1985963 2 1488369 [T/C] NM_000547,NM_001206744,NM_175719,NM_001206745,NM_175721,NM_175722 TPO,TPO,TPO,TPO,TPO,TPO EXON Missense_I447T,Missense_I447T,Missense_I447T,Missense_I447T,Missense_I447T,Missense_I274T exm169774 2 1488501 [A/G] NM_000547,NM_001206744,NM_175719,NM_001206745,NM_175721,NM_175722 TPO,TPO,TPO,TPO,TPO,TPO EXON Missense_R491H,Missense_R491H,Missense_R491H,Missense_R491H,Missense_R491H,Missense_R318H exm169776 2 1488512 [A/G] NM_000547,NM_001206744,NM_175719,NM_001206745,NM_175721,NM_175722 TPO,TPO,TPO,TPO,TPO,TPO EXON Missense_A495T,Missense_A495T,Missense_A495T,Missense_A495T,Missense_A495T,Missense_A322T exm169785 2 1488575 [A/G] NM_000547,NM_001206744,NM_175719,NM_001206745,NM_175721,NM_175722 TPO,TPO,TPO,TPO,TPO,TPO EXON Missense_G516R,Missense_G516R,Missense_G516R,Missense_G516R,Missense_G516R,Missense_G343R exm169788 2 1488616 [A/C] NM_000547,NM_001206744,NM_175719,NM_001206745,NM_175721,NM_175722 TPO,TPO,TPO,TPO,TPO,TPO EXON Missense_L529F,Missense_L529F,Missense_L529F,Missense_L529F,Missense_L529F,Missense_L356F exm169795 2 1491746 [A/G] NM_000547,NM_001206744,NM_175719,NM_001206745,NM_175721,NM_175722 TPO,TPO,TPO,TPO,TPO,TPO EXON Missense_R584Q,Missense_R584Q,Silent,Silent,Missense_R584Q,Missense_R411Q exm169805 2 1497618 [A/T] NM_000547,NM_001206744,NM_175719,NM_001206745,NM_175721,NM_175722 TPO,TPO,TPO,TPO,TPO,TPO EXON Missense_T605S,Missense_T605S,Missense_T548S,Missense_T548S,Missense_T605S,Missense_T432S exm169806 2 1497621 [T/C] NM_000547,NM_001206744,NM_175719,NM_001206745,NM_175721,NM_175722 TPO,TPO,TPO,TPO,TPO,TPO EXON Missense_P606S,Missense_P606S,Missense_P549S,Missense_P549S,Missense_P606S,Missense_P433S exm169817 2 1497783 [G/C] NM_000547,NM_001206744,NM_175719,NM_001206745,NM_175721,NM_175722 TPO,TPO,TPO,TPO,TPO,TPO EXON Missense_Q660E,Missense_Q660E,Missense_Q603E,Missense_Q603E,Missense_Q660E,Missense_Q487E exm169825 2 1499771 [A/G] NM_000547,NM_001206744,NM_175719,NM_001206745,NM_175721,NM_175722 TPO,TPO,TPO,TPO,TPO,TPO EXON Missense_E673K,Missense_E673K,Missense_E616K,Missense_E616K,Missense_E673K,Missense_E500K exm169826 2 1499805 [A/G] NM_000547,NM_001206744,NM_175719,NM_001206745,NM_175721,NM_175722 TPO,TPO,TPO,TPO,TPO,TPO EXON Missense_R684H,Missense_R684H,Missense_R627H,Missense_R627H,Missense_R684H,Missense_R511H exm169830 2 1499870 [A/G] NM_000547,NM_001206744,NM_175719,NM_001206745,NM_175721,NM_175722 TPO,TPO,TPO,TPO,TPO,TPO EXON Missense_M706V,Missense_M706V,Missense_M649V,Missense_M649V,Missense_M706V,Missense_M533V exm169834 2 1499927 [A/C] NM_000547,NM_001206744,NM_175719,NM_001206745,NM_175721,NM_175722 TPO,TPO,TPO,TPO,TPO,TPO EXON Missense_T725P,Missense_T725P,Missense_T668P,Missense_T668P,Missense_T725P,Missense_T552P exm169840 2 1500393 [A/G] NM_000547,NM_001206744,NM_175719,NM_001206745,NM_175721,NM_175722 TPO,TPO,TPO,TPO,TPO,TPO EXON Missense_V748M,Missense_V748M,Missense_V691M,Missense_V691M,Missense_V748M,Missense_V575M exm169844 2 1500456 [T/C] NM_000547,NM_001206744,NM_175719,NM_001206745,NM_175721,NM_175722 TPO,TPO,TPO,TPO,TPO,TPO EXON Missense_R769W,Missense_R769W,Missense_R712W,Missense_R712W,Missense_R769W,Missense_R596W exm169845 2 1500457 [A/G] NM_000547,NM_001206744,NM_175719,NM_001206745,NM_175721,NM_175722 TPO,TPO,TPO,TPO,TPO,TPO EXON Missense_R769Q,Missense_R769Q,Missense_R712Q,Missense_R712Q,Missense_R769Q,Missense_R596Q exm169865 2 1520660 [A/G] NM_000547,NM_001206744,NM_175719,NM_001206745,NM_175721,NM_175722 TPO,TPO,TPO,TPO,TPO,TPO EXON Missense_G842R,Missense_G842R,Missense_G785R,Missense_G785R,Missense_G798R,Missense_G669R exm169867 2 1520672 [T/C] NM_000547,NM_001206744,NM_175719,NM_001206745,NM_175721,NM_175722 TPO,TPO,TPO,TPO,TPO,TPO EXON Missense_R846W,Missense_R846W,Missense_R789W,Missense_R789W,Missense_R802W,Missense_R673W exm169870 2 1520676 [T/C] NM_000547,NM_001206744,NM_175719,NM_001206745,NM_175721,NM_175722 TPO,TPO,TPO,TPO,TPO,TPO EXON Missense_V847A,Missense_V847A,Missense_V790A,Missense_V790A,Missense_V803A,Missense_V674A exm169881 2 1544366 [T/G] NM_000547,NM_001206744,NM_175719,NM_001206745,NM_175721,NM_175722 TPO,TPO,TPO,TPO,TPO,TPO EXON Missense_W873C,Missense_W873C,Missense_W816C,Missense_W816C,Missense_W829C,Missense_W700C exm1986918 2 1544394 [T/C] NM_000547,NM_001206744,NM_175719,NM_001206745,NM_175721,NM_175722 TPO,TPO,TPO,TPO,TPO,TPO EXON Missense_P883S,Missense_P883S,Missense_P826S,Missense_P826S,Missense_P839S,Missense_P710S exm169889 2 1544464 [T/C] NM_000547,NM_001206744,NM_175719,NM_001206745,NM_175721,NM_175722 TPO,TPO,TPO,TPO,TPO,TPO EXON Missense_P906L,Missense_P906L,Missense_P849L,Missense_P849L,Missense_P862L,Missense_P733L exm169891 2 1544472 [A/G] NM_000547,NM_001206744,NM_175719,NM_001206745,NM_175721,NM_175722 TPO,TPO,TPO,TPO,TPO,TPO EXON Missense_A909T,Missense_A909T,Missense_A852T,Missense_A852T,Missense_A865T,Missense_A736T exm2236411 2 1546202 [C/G] NM_000547,NM_001206744,NM_175719,NM_001206745,NM_175721,NM_175722 TPO,TPO,TPO,TPO,TPO,TPO EXON Missense_G920R,Missense_G920R,Missense_G863R,Missense_G863R,Missense_G876R,Missense_G747R exm169920 2 1637992 [A/G] NM_012293 PXDN EXON Missense_A1475V exm169932 2 1642680 [T/C] NM_012293 PXDN EXON Missense_T1382A exm169934 2 1642698 [A/G] NM_012293 PXDN EXON Missense_R1376C exm169935 2 1642700 [A/G] NM_012293 PXDN EXON Missense_T1375I exm169936 2 1642736 [T/C] NM_012293 PXDN EXON Missense_G1363E exm169947 2 1647186 [A/G] NM_012293 PXDN EXON Synonymous_D1302D exm169957 2 1647263 [T/C] NM_012293 PXDN EXON Missense_N1277D exm169958 2 1647289 [A/G] NM_012293 PXDN EXON Missense_T1268M exm169973 2 1651959 [T/C] NM_012293 PXDN EXON Missense_R1198Q exm169974 2 1651993 [T/C] NM_012293 PXDN EXON Missense_D1187N exm1988391 2 1652377 [T/C] NM_012293 PXDN EXON Missense_A1059T exm170003 2 1652488 [T/C] NM_012293 PXDN EXON Missense_V1022M exm1988395 2 1652553 [A/G] NM_012293 PXDN EXON Missense_T1000M exm170022 2 1652932 [A/G] NM_012293 PXDN EXON Missense_R874C exm170044 2 1653333 [T/C] NM_012293 PXDN EXON Missense_K740R exm2254754 2 1664663 [A/G] NM_012293 PXDN EXON Synonymous_L609L exm170061 2 1664685 [A/G] NM_012293 PXDN EXON Missense_S602L exm1988713 2 1667449 [C/G] NM_012293 PXDN EXON Missense_Q499E exm1988830 2 1670070 [T/C] NM_012293 PXDN EXON Missense_V403I exm170095 2 1670102 [A/G] NM_012293 PXDN EXON Missense_T392M exm170097 2 1670117 [A/G] NM_012293 PXDN EXON Missense_P387L exm170100 2 1670156 [A/G] NM_012293 PXDN EXON Missense_S374F exm170103 2 1670165 [A/G] NM_012293 PXDN EXON Missense_P371L exm170125 2 1684063 [A/G] NM_012293 PXDN EXON Missense_A211V exm170132 2 1687859 [T/C] NM_012293 PXDN EXON Missense_E161K exm170137 2 1695771 [T/C] NM_012293 PXDN EXON Synonymous_L91L exm2269009 2 1756908 [T/C] exm-rs6735179 2 1777150 [A/G] exm170172 2 1891338 [T/C] NM_015025 MYT1L EXON Missense_R853Q exm170174 2 1893013 [A/G] NM_015025 MYT1L EXON Synonymous_T838T exm170178 2 1893072 [T/C] NM_015025 MYT1L EXON Missense_V819I exm1992725 2 1893113 [T/C] NM_015025 MYT1L EXON Missense_R805Q exm170197 2 1907021 [T/G] NM_015025 MYT1L EXON Nonsense_Y619X exm-rs2241685 2 1925993 [T/C] NM_015025 MYT1L Silent exm170220 2 1926390 [T/C] NM_015025 MYT1L EXON Missense_R384Q exm170225 2 1926468 [T/C] NM_015025 MYT1L EXON Missense_R358H exm170235 2 1926724 [T/C] NM_015025 MYT1L EXON Missense_G273S exm170266 2 1983529 [C/G] NM_015025 MYT1L EXON Missense_E7D exm2269010 2 2372181 [T/C] exm-rs10199521 2 2519513 [T/C] exm2269247 2 2535549 [T/C] exm2265108 2 2620146 [A/G] exm170281 2 3196197 [T/C] NM_003310 TSSC1 EXON Missense_R326H exm170300 2 3197861 [A/C] NM_003310 TSSC1 EXON Missense_L244V exm2273769 2 3200775 [A/G] NM_003310 TSSC1 EXON Missense_A177V exm2265109 2 3220709 [A/G] NM_003310 TSSC1 Silent exm170333 2 3261095 [T/C] NM_003310 TSSC1 EXON Missense_N131D exm170345 2 3341859 [T/C] NM_003310 TSSC1 EXON Missense_Q63R exm2265110 2 3384825 [A/G] NM_016030 TRAPPC12 Silent exm170368 2 3391458 [A/G] NM_016030 TRAPPC12 EXON Missense_A22T exm2021296 2 3391539 [A/G] NM_016030 TRAPPC12 EXON Missense_E49K exm2021297 2 3391558 [C/G] NM_016030 TRAPPC12 EXON Missense_S55W exm170410 2 3392037 [G/C] NM_016030 TRAPPC12 EXON Missense_A215P exm170414 2 3392074 [T/C] NM_016030 TRAPPC12 EXON Missense_F227S exm170420 2 3392127 [T/C] NM_016030 TRAPPC12 EXON Missense_P245S exm170434 2 3392295 [A/G] NM_016030 TRAPPC12 EXON Missense_S301G exm170443 2 3392434 [A/G] NM_016030 TRAPPC12 EXON Missense_N347S exm170450 2 3405593 [A/G] NM_016030 TRAPPC12 EXON Missense_A365T exm170462 2 3425721 [A/G] NM_016030 TRAPPC12 EXON Missense_G412S exm170464 2 3425731 [A/G] NM_016030 TRAPPC12 EXON Missense_G415E exm170466 2 3425739 [A/C] NM_016030 TRAPPC12 EXON Missense_T418P exm170467 2 3425749 [T/C] NM_016030 TRAPPC12 EXON Missense_T421M exm170474 2 3447577 [T/C] NM_016030 TRAPPC12 EXON Missense_I482T exm170478 2 3461428 [A/G] NM_016030 TRAPPC12 EXON Missense_G523S exm170479 2 3461441 [A/G] NM_016030 TRAPPC12 EXON Missense_S527N exm170481 2 3461447 [T/C] NM_016030 TRAPPC12 EXON Missense_T529I exm170496 2 3469399 [T/C] NM_016030 TRAPPC12 EXON Missense_S570L exm170500 2 3469449 [A/G] NM_016030 TRAPPC12 EXON Missense_G587S exm170511 2 3481553 [A/G] NM_016030 TRAPPC12 EXON Missense_V622I exm170527 2 3483093 [A/C] NM_016030 TRAPPC12 EXON Missense_H690P exm170546 2 3502804 [A/G] NM_018269 ADI1 EXON Missense_A157V exm170547 2 3502820 [T/C] NM_018269 ADI1 EXON Missense_E152K exm170548 2 3502834 [T/C] NM_018269 ADI1 EXON Missense_R147Q exm2021341 2 3504619 [A/G] NM_018269 ADI1 EXON Missense_A129V exm170567 2 3504719 [A/G] NM_018269 ADI1 EXON Missense_R96C exm2237652 2 3517666 [T/C] NM_018269 ADI1 EXON Missense_T68A exm170588 2 3596275 [T/C] NM_002936 RNASEH1 EXON Missense_I202V exm2021358 2 3596310 [A/G] NM_002936 RNASEH1 EXON Missense_A190V exm2255335 2 3597974 [T/C] NM_002936 RNASEH1 EXON Synonymous_P166P exm170605 2 3598061 [T/C] NM_002936 RNASEH1 EXON Synonymous_G137G exm170612 2 3599791 [T/C] NM_002936 RNASEH1 EXON Missense_M118V exm2255336 2 3599855 [A/G] NM_002936 RNASEH1 EXON Synonymous_S96S exm170622 2 3599857 [A/T] NM_002936 RNASEH1 EXON Missense_S96C exm170680 2 3651953 [T/C] NR_045659,NM_001255982,NM_199235,NM_001255984,NM_024027,NM_001255983,NM_001255985 COLEC11,COLEC11,COLEC11,COLEC11,COLEC11,COLEC11,COLEC11 EXON Silent,Missense_V8A,Silent,Missense_V8A,Missense_V8A,Missense_V8A,Missense_V22A exm170684 2 3652023 [T/C] NR_045659,NM_001255982,NM_199235,NM_001255984,NM_024027,NM_001255983,NM_001255985 COLEC11,COLEC11,COLEC11,COLEC11,COLEC11,COLEC11,COLEC11 EXON Silent,Synonymous_D31D,Missense_T2M,Synonymous_D31D,Synonymous_D31D,Synonymous_D31D,Synonymous_D45D exm170692 2 3660935 [T/C] NR_045659,NM_001255982,NM_199235,NM_001255984,NM_024027,NM_001255983,NM_001255985,NM_001255986,NM_001255987,NM_001255988,NM_001255989 COLEC11,COLEC11,COLEC11,COLEC11,COLEC11,COLEC11,COLEC11,COLEC11,COLEC11,COLEC11,COLEC11 EXON Silent,Silent,Missense_P26L,Silent,Synonymous_P55P,Synonymous_P55P,Synonymous_P69P,Synonymous_P29P,Silent,Synonymous_P29P,Silent exm2021394 2 3660939 [T/C] NR_045659,NM_001255982,NM_199235,NM_001255984,NM_024027,NM_001255983,NM_001255985,NM_001255986,NM_001255987,NM_001255988,NM_001255989 COLEC11,COLEC11,COLEC11,COLEC11,COLEC11,COLEC11,COLEC11,COLEC11,COLEC11,COLEC11,COLEC11 EXON Silent,Silent,Synonymous_D27D,Silent,Missense_R57W,Missense_R57W,Missense_R71W,Missense_R31W,Silent,Missense_R31W,Silent exm170693 2 3660961 [T/C] NR_045659,NM_001255982,NM_199235,NM_001255984,NM_024027,NM_001255983,NM_001255985,NM_001255986,NM_001255987,NM_001255988,NM_001255989 COLEC11,COLEC11,COLEC11,COLEC11,COLEC11,COLEC11,COLEC11,COLEC11,COLEC11,COLEC11,COLEC11 EXON Silent,Silent,Missense_R35W,Silent,Missense_T64M,Missense_T64M,Missense_T78M,Missense_T38M,Silent,Missense_T38M,Silent exm170700 2 3673680 [A/G] NR_045659,NM_001255982,NM_199235,NM_001255984,NM_024027,NM_001255983,NM_001255985,NM_001255986,NM_001255987,NM_001255988,NM_001255989 COLEC11,COLEC11,COLEC11,COLEC11,COLEC11,COLEC11,COLEC11,COLEC11,COLEC11,COLEC11,COLEC11 EXON Silent,Silent,Missense_Q64R,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm170705 2 3685162 [A/G] NR_045659,NM_001255982,NM_199235,NM_001255984,NM_024027,NM_001255983,NM_001255985,NM_001255986,NM_001255987,NM_001255988,NM_001255989 COLEC11,COLEC11,COLEC11,COLEC11,COLEC11,COLEC11,COLEC11,COLEC11,COLEC11,COLEC11,COLEC11 EXON Silent,Missense_R57H,Missense_R78H,Silent,Missense_R81H,Silent,Missense_R95H,Missense_R55H,Missense_R31H,Silent,Silent exm2255340 2 3691324 [T/C] NR_045659,NM_001255982,NM_199235,NM_001255984,NM_024027,NM_001255983,NM_001255985,NM_001255986,NM_001255987,NM_001255988,NM_001255989 COLEC11,COLEC11,COLEC11,COLEC11,COLEC11,COLEC11,COLEC11,COLEC11,COLEC11,COLEC11,COLEC11 EXON Silent,Synonymous_A120A,Synonymous_A141A,Synonymous_A96A,Synonymous_A144A,Synonymous_A120A,Synonymous_A158A,Synonymous_A118A,Synonymous_A94A,Synonymous_A94A,Synonymous_A70A exm170725 2 3691324 [T/C] NR_045659,NM_001255982,NM_199235,NM_001255984,NM_024027,NM_001255983,NM_001255985,NM_001255986,NM_001255987,NM_001255988,NM_001255989 COLEC11,COLEC11,COLEC11,COLEC11,COLEC11,COLEC11,COLEC11,COLEC11,COLEC11,COLEC11,COLEC11 EXON Silent,Synonymous_A120A,Synonymous_A141A,Synonymous_A96A,Synonymous_A144A,Synonymous_A120A,Synonymous_A158A,Synonymous_A118A,Synonymous_A94A,Synonymous_A94A,Synonymous_A70A exm170729 2 3691406 [A/G] NR_045659,NM_001255982,NM_199235,NM_001255984,NM_024027,NM_001255983,NM_001255985,NM_001255986,NM_001255987,NM_001255988,NM_001255989 COLEC11,COLEC11,COLEC11,COLEC11,COLEC11,COLEC11,COLEC11,COLEC11,COLEC11,COLEC11,COLEC11 EXON Silent,Missense_G148S,Missense_G169S,Missense_G124S,Missense_G172S,Missense_G148S,Missense_G186S,Missense_G146S,Missense_G122S,Missense_G122S,Missense_G98S exm170732 2 3691473 [T/C] NR_045659,NM_001255982,NM_199235,NM_001255984,NM_024027,NM_001255983,NM_001255985,NM_001255986,NM_001255987,NM_001255988,NM_001255989 COLEC11,COLEC11,COLEC11,COLEC11,COLEC11,COLEC11,COLEC11,COLEC11,COLEC11,COLEC11,COLEC11 EXON Silent,Missense_A170V,Missense_A191V,Missense_A146V,Missense_A194V,Missense_A170V,Missense_A208V,Missense_A168V,Missense_A144V,Missense_A144V,Missense_A120V exm170737 2 3691548 [A/G] NR_045659,NM_001255982,NM_199235,NM_001255984,NM_024027,NM_001255983,NM_001255985,NM_001255986,NM_001255987,NM_001255988,NM_001255989 COLEC11,COLEC11,COLEC11,COLEC11,COLEC11,COLEC11,COLEC11,COLEC11,COLEC11,COLEC11,COLEC11 EXON Silent,Missense_H195R,Missense_H216R,Missense_H171R,Missense_H219R,Missense_H195R,Missense_H233R,Missense_H193R,Missense_H169R,Missense_H169R,Missense_H145R exm170759 2 3726083 [A/C] NM_018436 ALLC EXON Missense_H37P exm170763 2 3726136 [A/G] NM_018436 ALLC EXON Missense_R55G exm170776 2 3727551 [T/C] NM_018436 ALLC EXON Nonsense_R89X exm170780 2 3729254 [T/C] NM_018436 ALLC EXON Missense_T110I exm170788 2 3730635 [A/G] NM_018436 ALLC EXON Nonsense_W161X exm170789 2 3730644 [T/C] NM_018436 ALLC EXON Missense_I164T exm170795 2 3743399 [A/G] NM_018436 ALLC EXON Missense_A202T exm170798 2 3743870 [T/G] NM_018436 ALLC EXON Missense_G225C exm170806 2 3744989 [T/C] NM_018436 ALLC EXON Nonsense_R265X exm170807 2 3744990 [A/G] NM_018436 ALLC EXON Missense_R265Q exm170810 2 3749119 [T/C] NM_018436 ALLC EXON Missense_C290R exm2237684 2 3750037 [C/G] NM_018436 ALLC EXON Missense_P354A exm170826 2 3750061 [T/C] NM_018436 ALLC EXON Missense_R362W exm2269011 2 4050728 [T/C] exm-rs1024026 2 4135981 [T/C] exm2255363 2 4188698 [T/C] exm2261268 2 4301257 [A/C] exm2269013 2 4905977 [T/C] exm-rs1377638 2 5293525 [T/C] exm2255410 2 5390055 [A/C] exm2261283 2 5523127 [T/C] exm170866 2 5833562 [G/C] NM_003108 SOX11 EXON Missense_L237V exm2265111 2 5847893 [A/G] exm-rs16864170 2 5907880 [T/C] exm-rs1405262 2 6134940 [T/C] exm2263933 2 6185634 [A/C] exm2265112 2 6500101 [A/G] exm-rs6431805 2 6654714 [T/C] exm170895 2 6989988 [T/C] NM_001256478,NR_046236,NM_207315 CMPK2,CMPK2,CMPK2 EXON Silent,Silent,Missense_E448G exm170898 2 6990033 [T/C] NM_001256478,NR_046236,NM_207315 CMPK2,CMPK2,CMPK2 EXON Silent,Silent,Missense_K433R exm170899 2 6990069 [T/C] NM_001256478,NR_046236,NM_207315 CMPK2,CMPK2,CMPK2 EXON Silent,Silent,Missense_G421D exm170906 2 6991647 [T/C] NM_001256478,NR_046236,NM_207315,NM_001256477 CMPK2,CMPK2,CMPK2,CMPK2 EXON Silent,Silent,Missense_Q387R,Missense_Q387R exm170907 2 6991671 [A/G] NM_001256478,NR_046236,NM_207315,NM_001256477 CMPK2,CMPK2,CMPK2,CMPK2 EXON Silent,Silent,Missense_P379L,Missense_P379L exm170910 2 6991759 [A/G] NM_001256478,NR_046236,NM_207315,NM_001256477 CMPK2,CMPK2,CMPK2,CMPK2 EXON Silent,Silent,Nonsense_Q350X,Nonsense_Q350X exm2255465 2 7001359 [A/G] NM_001256478,NR_046236,NM_207315,NM_001256477 CMPK2,CMPK2,CMPK2,CMPK2 EXON Synonymous_S316S,Silent,Synonymous_S316S,Synonymous_S316S exm170921 2 7001406 [T/C] NM_001256478,NR_046236,NM_207315,NM_001256477 CMPK2,CMPK2,CMPK2,CMPK2 EXON Missense_I301V,Silent,Missense_I301V,Missense_I301V exm170923 2 7001495 [T/G] NM_001256478,NR_046236,NM_207315,NM_001256477 CMPK2,CMPK2,CMPK2,CMPK2 EXON Nonsense_S271X,Silent,Nonsense_S271X,Nonsense_S271X exm170967 2 7018056 [T/G] NM_080657 RSAD2 EXON Missense_L42R exm2237938 2 7018085 [A/G] NM_080657 RSAD2 EXON Missense_V52I exm2026404 2 7023549 [T/C] NM_080657 RSAD2 EXON Missense_R132W exm170981 2 7023598 [A/G] NM_080657 RSAD2 EXON Missense_R148Q exm170987 2 7023664 [T/G] NM_080657 RSAD2 Silent exm170991 2 7027135 [A/G] NM_080657 RSAD2 EXON Missense_R193H exm170994 2 7027188 [T/C] NM_080657 RSAD2 EXON Missense_C211R exm170995 2 7027206 [A/G] NM_080657 RSAD2 EXON Missense_A217T exm170999 2 7027258 [T/C] NM_080657 RSAD2 EXON Missense_T234M exm171003 2 7027288 [A/G] NM_080657 RSAD2 EXON Missense_R244H exm171011 2 7035912 [T/C] NM_080657 RSAD2 EXON Missense_R309C exm171012 2 7035926 [T/A] NM_080657 RSAD2 EXON Nonsense_C313X exm2269249 2 7090819 [T/G] NM_014746 RNF144A Silent exm171024 2 7137067 [A/G] NM_014746 RNF144A EXON Missense_T4A exm-rs6741819 2 7147973 [T/C] NM_014746 RNF144A Silent exm171033 2 7154873 [G/C] NM_014746 RNF144A EXON Missense_Q91E exm171048 2 7164525 [A/G] NM_014746 RNF144A EXON Missense_D179N exm2269014 2 7232478 [T/C] exm2265113 2 7590185 [A/G] NR_038432 LOC100506274 EXON Silent exm-rs6431897 2 7933809 [T/C] exm2261316 2 7968275 [A/G] exm2269015 2 8104849 [T/G] NR_015405 LOC339788 Silent exm-rs1364054 2 8178735 [A/G] NR_034135 LINC00299 Silent exm-rs238627 2 8391187 [T/C] NR_034135 LINC00299 Silent exm-rs13008689 2 8530256 [A/G] exm2265114 2 8694850 [A/G] exm2261326 2 8811354 [A/C] exm171120 2 8871219 [C/G] NM_020738 KIDINS220 EXON Missense_D1649E exm171128 2 8871342 [A/C] NM_020738 KIDINS220 EXON Missense_Q1608H exm171132 2 8871439 [A/G] NM_020738 KIDINS220 EXON Missense_A1576V exm2255540 2 8871615 [T/C] NM_020738 KIDINS220 EXON Synonymous_Q1517Q exm171137 2 8871615 [T/C] NM_020738 KIDINS220 EXON Synonymous_Q1517Q exm171141 2 8871797 [A/C] NM_020738 KIDINS220 EXON Missense_V1457F exm171156 2 8873708 [A/G] NM_020738 KIDINS220 EXON Missense_R1307C exm171161 2 8873741 [T/C] NM_020738 KIDINS220 EXON Missense_S1296G exm171163 2 8873780 [T/C] NM_020738 KIDINS220 EXON Missense_V1283M exm171164 2 8873792 [T/C] NM_020738 KIDINS220 EXON Missense_A1279T exm171197 2 8890333 [T/C] NM_020738 KIDINS220 EXON Missense_N1108S exm171199 2 8890385 [A/C] NM_020738 KIDINS220 EXON Missense_A1091S exm171202 2 8891611 [A/G] NM_020738 KIDINS220 EXON Missense_R1059W exm171215 2 8910890 [A/T] NM_020738 KIDINS220 EXON Missense_Q974L exm2277240 2 8916919 [A/G] NM_020738 KIDINS220 EXON Missense_P936L exm171230 2 8919071 [T/C] NM_020738 KIDINS220 EXON Missense_V857I exm171237 2 8925915 [T/C] NM_020738 KIDINS220 EXON Missense_A729T exm171240 2 8926100 [A/G] NM_020738 KIDINS220 EXON Missense_I667T exm2273770 2 8926341 [A/G] NM_020738 KIDINS220 EXON Missense_T645I exm171250 2 8928894 [A/G] NM_020738 KIDINS220 EXON Missense_A557V exm171256 2 8930128 [T/C] NM_020738 KIDINS220 EXON Missense_I501M exm171261 2 8931353 [T/C] NM_020738 KIDINS220 EXON Synonymous_R426R exm171267 2 8938357 [T/C] NM_020738 KIDINS220 EXON Missense_N325S exm-rs7587928 2 8949070 [T/C] NM_020738 KIDINS220 Silent exm171283 2 8952567 [T/A] NM_020738 KIDINS220 EXON Missense_H154Q exm171302 2 8967182 [A/C] NM_020738 KIDINS220 EXON Missense_E14D exm2269016 2 8978676 [T/C] exm2029818 2 8998841 [T/C] NM_138799 MBOAT2 EXON Missense_I511V exm171312 2 8998906 [T/C] NM_138799 MBOAT2 EXON Missense_G489E exm171318 2 8998982 [A/G] NM_138799 MBOAT2 EXON Missense_P464S exm171321 2 9000756 [A/G] NM_138799 MBOAT2 EXON Missense_L442F exm171330 2 9002851 [C/G] NM_138799 MBOAT2 EXON Missense_V352L exm171334 2 9004345 [T/A] NM_138799 MBOAT2 EXON Missense_M336K exm171339 2 9013307 [T/C] NM_138799 MBOAT2 EXON Missense_T272A exm171340 2 9013417 [T/C] NM_138799 MBOAT2 EXON Missense_Q235R exm171341 2 9013424 [T/C] NM_138799 MBOAT2 EXON Missense_V233I exm171358 2 9028162 [A/C] NM_138799 MBOAT2 EXON Missense_C146F exm2261332 2 9290324 [A/G] exm171422 2 9496439 [T/C] NM_003887,NM_001135191 ASAP2,ASAP2 EXON Missense_T431M,Missense_T431M exm171430 2 9514897 [A/G] NM_003887,NM_001135191 ASAP2,ASAP2 EXON Missense_D524N,Missense_D524N exm171435 2 9514933 [T/G] NM_003887,NM_001135191 ASAP2,ASAP2 EXON Missense_A536S,Missense_A536S exm171450 2 9519090 [A/T] NM_003887,NM_001135191 ASAP2,ASAP2 EXON Missense_Q617L,Missense_Q617L exm171464 2 9525398 [T/C] NM_003887,NM_001135191 ASAP2,ASAP2 EXON Missense_F681L,Missense_F681L exm171473 2 9528495 [A/G] NM_003887,NM_001135191 ASAP2,ASAP2 EXON Missense_A735T,Missense_A735T exm171475 2 9528536 [G/C] NM_003887,NM_001135191 ASAP2,ASAP2 EXON Missense_E748D,Missense_E748D exm171476 2 9528554 [T/G] NM_003887,NM_001135191 ASAP2,ASAP2 EXON Missense_M754I,Missense_M754I exm2238130 2 9531304 [G/C] NM_003887,NM_001135191 ASAP2,ASAP2 EXON Missense_P833A,Silent exm171498 2 9533695 [T/C] NM_003887,NM_001135191 ASAP2,ASAP2 EXON Missense_P868L,Missense_P823L exm171514 2 9540915 [A/G] NM_003887,NM_001135191 ASAP2,ASAP2 EXON Missense_M927V,Missense_M882V exm171515 2 9540927 [T/C] NM_003887,NM_001135191 ASAP2,ASAP2 EXON Missense_P931S,Missense_P886S exm171535 2 9547660 [A/G] NM_022334,NM_004763 ITGB1BP1,ITGB1BP1 EXON Silent,Missense_A150V exm171541 2 9548277 [T/G] NM_022334,NM_004763 ITGB1BP1,ITGB1BP1 EXON Missense_K116Q,Missense_K116Q exm171550 2 9552460 [A/G] NM_022334,NM_004763 ITGB1BP1,ITGB1BP1 EXON Missense_L76F,Missense_L76F exm171594 2 9588381 [T/C] NM_016207 CPSF3 EXON Nonsense_R433X exm171600 2 9593064 [A/G] NM_016207 CPSF3 EXON Missense_K473R exm171617 2 9611524 [A/G] NM_016207 CPSF3 EXON Missense_V637I exm171618 2 9611549 [A/G] NM_016207 CPSF3 EXON Missense_N645S exm171624 2 9613088 [A/G] NM_016207 CPSF3 EXON Missense_R666Q exm171632 2 9616132 [A/G] NM_001039613 IAH1 EXON Missense_G33D exm171636 2 9621416 [A/T] NM_001039613 IAH1 EXON Missense_D95E exm171638 2 9621442 [T/G] NM_001039613 IAH1 EXON Missense_L104R exm171656 2 9628433 [A/G] NM_001039613 IAH1 EXON Missense_S241N exm171663 2 9630344 [A/G] NM_003183 ADAM17 EXON Missense_R813C exm171672 2 9630538 [A/G] NM_003183 ADAM17 EXON Missense_A748V exm171674 2 9630541 [A/G] NM_003183 ADAM17 EXON Missense_S747L exm171677 2 9630607 [T/C] NM_003183 ADAM17 EXON Missense_R725H exm171685 2 9633092 [T/C] NM_003183 ADAM17 EXON Missense_V673I exm171691 2 9633899 [T/C] NM_003183 ADAM17 EXON Missense_D657G exm171693 2 9634851 [A/C] NM_003183 ADAM17 EXON Missense_R610L exm2255553 2 9637331 [A/G] NM_003183 ADAM17 EXON Synonymous_T565T exm171720 2 9645368 [A/G] NM_003183 ADAM17 EXON Missense_P491S exm171723 2 9645467 [T/C] NM_003183 ADAM17 EXON Missense_I458V exm2238155 2 9650202 [A/G] NM_003183 ADAM17 EXON Missense_P417L exm-rs10495563 2 9662210 [A/G] NM_003183 ADAM17 Silent exm171740 2 9666349 [A/C] NM_003183 ADAM17 EXON Missense_R215I exm171741 2 9667930 [T/C] NM_003183 ADAM17 EXON Missense_R202G exm2030346 2 9667998 [T/C] NM_003183 ADAM17 EXON Missense_Q179R exm171746 2 9668050 [T/C] NM_003183 ADAM17 EXON Missense_K162E exm171752 2 9676956 [C/G] NM_003183 ADAM17 EXON Missense_H78D exm171754 2 9683334 [T/G] NM_003183 ADAM17 EXON Missense_L60I exm171755 2 9683364 [T/C] NM_003183 ADAM17 EXON Missense_I50V exm171760 2 9695682 [A/G] NM_003183 ADAM17 EXON Missense_P18L exm2030739 2 9731611 [T/C] NM_006826 YWHAQ EXON Missense_T110A exm-rs2357266 2 9924387 [A/G] exm171814 2 10015994 [A/G] NM_005680 TAF1B EXON Missense_E185G exm171824 2 10022893 [A/G] NM_005680 TAF1B EXON Missense_M256V exm171829 2 10044994 [T/C] NM_005680 TAF1B EXON Missense_P272S exm171833 2 10045024 [A/G] NM_005680 TAF1B EXON Missense_V282I exm171834 2 10045055 [A/G] NM_005680 TAF1B EXON Missense_R292H exm171836 2 10045097 [T/C] NM_005680 TAF1B EXON Missense_I306T exm171840 2 10050877 [A/G] NM_005680 TAF1B EXON Missense_S323N exm171842 2 10050889 [T/A] NM_005680 TAF1B EXON Missense_H327L exm171843 2 10050890 [A/C] NM_005680 TAF1B EXON Missense_H327Q exm171846 2 10050960 [A/G] NM_005680 TAF1B EXON Missense_T351A exm171855 2 10053341 [C/G] NM_005680 TAF1B EXON Missense_D412H exm171857 2 10053359 [T/C] NM_005680 TAF1B EXON Missense_W418R exm171866 2 10059732 [A/G] NM_005680 TAF1B EXON Missense_V450M exm171870 2 10059770 [T/G] NM_005680 TAF1B EXON Missense_E462D exm171871 2 10059772 [T/C] NM_005680 TAF1B EXON Missense_S463L exm171872 2 10059844 [T/C] NM_005680 TAF1B EXON Missense_T487M exm171874 2 10059892 [A/G] NM_005680 TAF1B EXON Missense_Q503R exm171888 2 10074012 [A/C] NM_005680 TAF1B EXON Missense_L556I exm171908 2 10098921 [A/G] NM_198182 GRHL1 EXON Missense_R72G exm171911 2 10098974 [A/T] NM_198182 GRHL1 EXON Missense_D89E exm171920 2 10101468 [A/G] NM_198182 GRHL1 EXON Missense_N191S exm171923 2 10101557 [A/G] NM_198182 GRHL1 EXON Missense_V221I exm171925 2 10104017 [A/G] NM_198182 GRHL1 EXON Missense_N250S exm171927 2 10104077 [T/C] NM_198182 GRHL1 EXON Missense_T270I exm171933 2 10104451 [A/G] NM_198182 GRHL1 EXON Missense_A331T exm171947 2 10126330 [A/G] NM_198182 GRHL1 EXON Missense_V397I exm2254423 2 10126416 [A/G] NM_198182 GRHL1 Silent exm171959 2 10132274 [T/C] NM_198182 GRHL1 EXON Synonymous_H487H exm171962 2 10133341 [C/G] NM_198182 GRHL1 EXON Missense_P490A exm171990 2 10186320 [A/G] NM_003597,NM_001177716,NM_001177718 KLF11,KLF11,KLF11 EXON Missense_R29Q,Missense_R12Q,Missense_R12Q exm171992 2 10186419 [A/G] NM_003597,NM_001177716,NM_001177718 KLF11,KLF11,KLF11 EXON Missense_Q62R,Missense_Q45R,Missense_Q45R exm171997 2 10186509 [T/C] NM_003597,NM_001177716,NM_001177718 KLF11,KLF11,KLF11 EXON Missense_P92L,Missense_P75L,Missense_P75L exm172000 2 10187822 [A/G] NM_003597,NM_001177716,NM_001177718 KLF11,KLF11,KLF11 EXON Missense_R120G,Missense_R103G,Missense_R103G exm172001 2 10187871 [T/C] NM_003597,NM_001177716,NM_001177718 KLF11,KLF11,KLF11 EXON Missense_T136M,Missense_T119M,Missense_T119M exm172003 2 10187874 [A/G] NM_003597,NM_001177716,NM_001177718 KLF11,KLF11,KLF11 EXON Missense_D137G,Missense_D120G,Missense_D120G exm172005 2 10187901 [T/C] NM_003597,NM_001177716,NM_001177718 KLF11,KLF11,KLF11 EXON Missense_A146V,Missense_A129V,Missense_A129V exm2236005 2 10187931 [T/G] NM_003597,NM_001177716,NM_001177718 KLF11,KLF11,KLF11 EXON Missense_G156V,Missense_G139V,Missense_G139V exm172013 2 10188005 [A/G] NM_003597,NM_001177716,NM_001177718 KLF11,KLF11,KLF11 EXON Missense_E181K,Missense_E164K,Missense_E164K exm172015 2 10188010 [A/C] NM_003597,NM_001177716,NM_001177718 KLF11,KLF11,KLF11 EXON Missense_S182R,Missense_S165R,Missense_S165R exm172021 2 10188123 [T/C] NM_003597,NM_001177716,NM_001177718 KLF11,KLF11,KLF11 EXON Missense_T220M,Missense_T203M,Missense_T203M exm172024 2 10188143 [A/G] NM_003597,NM_001177716,NM_001177718 KLF11,KLF11,KLF11 EXON Missense_N227D,Missense_N210D,Missense_N210D exm172026 2 10188246 [T/C] NM_003597,NM_001177716,NM_001177718 KLF11,KLF11,KLF11 EXON Missense_P261L,Missense_P244L,Missense_P244L exm172035 2 10188417 [T/G] NM_003597,NM_001177716,NM_001177718 KLF11,KLF11,KLF11 EXON Missense_L318R,Missense_L301R,Missense_L301R exm172047 2 10188566 [T/C] NM_003597,NM_001177716,NM_001177718 KLF11,KLF11,KLF11 EXON Missense_P368S,Missense_P351S,Missense_P351S exm172052 2 10188669 [A/G] NM_003597,NM_001177716,NM_001177718 KLF11,KLF11,KLF11 EXON Missense_R402Q,Missense_R385Q,Missense_R385Q exm172064 2 10192477 [A/G] NM_003597,NM_001177716,NM_001177718 KLF11,KLF11,KLF11 EXON Missense_R461Q,Missense_R444Q,Missense_R444Q exm172066 2 10192524 [A/G] NM_003597,NM_001177716,NM_001177718 KLF11,KLF11,KLF11 EXON Missense_M477V,Missense_M460V,Missense_M460V exm172099 2 10262920 [T/G] NM_001165931,NM_001034 RRM2,RRM2 EXON Missense_S59A,Silent exm2254429 2 10262973 [A/G] NM_001165931,NM_001034 RRM2,RRM2 EXON Synonymous_Q76Q,Synonymous_Q16Q exm172120 2 10263881 [A/G] NM_001165931,NM_001034 RRM2,RRM2 EXON Missense_I173V,Missense_I113V exm172146 2 10269367 [A/G] NM_001165931,NM_001034 RRM2,RRM2 EXON Missense_R402G,Missense_R342G exm172149 2 10282081 [A/G] NM_182626 C2orf48 EXON Synonymous_A24A exm172151 2 10282385 [T/A] NM_182626 C2orf48 EXON Missense_M26L exm172153 2 10282395 [T/C] NM_182626 C2orf48 EXON Missense_S29L exm172155 2 10282429 [A/G] NM_182626 C2orf48 EXON Synonymous_G40G exm172157 2 10282446 [A/G] NM_182626 C2orf48 EXON Missense_R46H exm172165 2 10350512 [A/C] NM_182626 C2orf48 EXON Missense_P90Q exm172167 2 10350563 [T/A] NM_182626 C2orf48 EXON Missense_L107Q exm172173 2 10350679 [A/G] NM_182626 C2orf48 EXON Missense_G146R exm2269250 2 10520520 [T/C] NM_002149,NM_134421,NM_001258357,NM_001258358,NM_001258359 HPCAL1,HPCAL1,HPCAL1,HPCAL1,HPCAL1 Silent,Silent,Silent,Silent,Silent exm2269017 2 10541712 [T/G] NM_002149,NM_134421,NM_001258357,NM_001258358,NM_001258359 HPCAL1,HPCAL1,HPCAL1,HPCAL1,HPCAL1 Silent,Silent,Silent,Silent,Silent exm172212 2 10566937 [A/G] NM_002149,NM_134421,NM_001258357,NM_001258358,NM_001258359 HPCAL1,HPCAL1,HPCAL1,HPCAL1,HPCAL1 EXON Missense_S191N,Missense_S191N,Missense_S191N,Missense_S191N,Missense_S191N exm172241 2 10582043 [A/G] NM_002539 ODC1 EXON Missense_S309L exm172248 2 10582249 [T/C] NM_002539 ODC1 EXON Missense_G268R exm1974399 2 10582294 [G/C] NM_002539 ODC1 EXON Missense_G253R exm172263 2 10583865 [A/G] NM_002539 ODC1 EXON Missense_R183W exm172275 2 10584626 [T/C] NM_002539 ODC1 EXON Missense_G84R exm172283 2 10585140 [T/C] NM_002539 ODC1 EXON Missense_E7K exm172299 2 10717775 [A/C] NR_048552,NM_024894,NM_001261392,NM_001261394 NOL10,NOL10,NOL10,NOL10 EXON Silent,Missense_F645C,Missense_F619C,Missense_F595C exm172302 2 10717806 [T/C] NR_048552,NM_024894,NM_001261392,NM_001261394 NOL10,NOL10,NOL10,NOL10 EXON Silent,Missense_D635N,Missense_D609N,Missense_D585N exm172306 2 10729257 [T/C] NR_048552,NM_024894,NM_001261392,NM_001261394 NOL10,NOL10,NOL10,NOL10 EXON Silent,Missense_T586A,Missense_T560A,Missense_T536A exm172309 2 10729287 [A/G] NR_048552,NM_024894,NM_001261392,NM_001261394 NOL10,NOL10,NOL10,NOL10 EXON Silent,Missense_R576W,Missense_R550W,Missense_R526W exm172310 2 10729319 [T/C] NR_048552,NM_024894,NM_001261392,NM_001261394 NOL10,NOL10,NOL10,NOL10 EXON Silent,Missense_R565H,Missense_R539H,Missense_R515H exm172317 2 10740989 [T/C] NR_048552,NM_024894,NM_001261392,NM_001261394 NOL10,NOL10,NOL10,NOL10 EXON Silent,Missense_K471R,Missense_K445R,Missense_K421R exm172328 2 10747407 [A/C] NR_048552,NM_024894,NM_001261392,NM_001261394 NOL10,NOL10,NOL10,NOL10 EXON Silent,Missense_F353V,Missense_F327V,Missense_F303V exm172331 2 10784456 [T/C] NR_048552,NM_024894,NM_001261392,NM_001261394 NOL10,NOL10,NOL10,NOL10 EXON Silent,Missense_Y339C,Missense_Y313C,Missense_Y289C exm172333 2 10784467 [C/G] NR_048552,NM_024894,NM_001261392,NM_001261394 NOL10,NOL10,NOL10,NOL10 EXON Silent,Missense_K335N,Missense_K309N,Missense_K285N exm172338 2 10794618 [T/C] NR_048552,NM_024894,NM_001261392,NM_001261394 NOL10,NOL10,NOL10,NOL10 EXON Silent,Missense_Y321C,Missense_Y295C,Missense_Y271C exm172343 2 10803104 [T/C] NR_048552,NM_024894,NM_001261392,NM_001261394 NOL10,NOL10,NOL10,NOL10 EXON Silent,Missense_S220G,Missense_S194G,Missense_S220G exm172345 2 10803113 [T/C] NR_048552,NM_024894,NM_001261392,NM_001261394 NOL10,NOL10,NOL10,NOL10 EXON Silent,Missense_A217T,Missense_A191T,Missense_A217T exm172354 2 10811713 [T/G] NR_048552,NM_024894,NM_001261392,NM_001261394 NOL10,NOL10,NOL10,NOL10 EXON Silent,Missense_Y144S,Missense_Y118S,Missense_Y144S exm172370 2 10829981 [A/C] NR_048552,NM_024894,NM_001261392,NM_001261394 NOL10,NOL10,NOL10,NOL10 EXON Silent,Missense_V3F,Missense_V3F,Missense_V3F exm1974670 2 10829982 [G/C] NR_048552,NM_024894,NM_001261392,NM_001261394 NOL10,NOL10,NOL10,NOL10 EXON Silent,Missense_Q2H,Missense_Q2H,Missense_Q2H exm172372 2 10863065 [A/C] NM_144583,NM_001039362 ATP6V1C2,ATP6V1C2 EXON Missense_N30K,Missense_N30K exm172382 2 10894132 [A/G] NM_144583,NM_001039362 ATP6V1C2,ATP6V1C2 EXON Missense_V75M,Missense_V75M exm172392 2 10908893 [A/G] NM_144583,NM_001039362 ATP6V1C2,ATP6V1C2 EXON Missense_N143D,Missense_N143D exm172395 2 10911997 [T/C] NM_144583,NM_001039362 ATP6V1C2,ATP6V1C2 EXON Missense_I168T,Missense_I168T exm172396 2 10912038 [A/G] NM_144583,NM_001039362 ATP6V1C2,ATP6V1C2 EXON Missense_V182I,Missense_V182I exm172402 2 10914975 [C/G] NM_144583,NM_001039362 ATP6V1C2,ATP6V1C2 EXON Missense_E234Q,Missense_E234Q exm172407 2 10915145 [T/A] NM_144583,NM_001039362 ATP6V1C2,ATP6V1C2 EXON Missense_E258V,Missense_E258V exm172408 2 10915164 [A/G] NM_144583,NM_001039362 ATP6V1C2,ATP6V1C2 EXON Missense_M264I,Missense_M264I exm172413 2 10917762 [A/C] NM_144583,NM_001039362 ATP6V1C2,ATP6V1C2 EXON Silent,Missense_K293Q exm2273771 2 10917808 [A/G] NM_144583,NM_001039362 ATP6V1C2,ATP6V1C2 EXON Silent,Missense_G308E exm172416 2 10917840 [A/G] NM_144583,NM_001039362 ATP6V1C2,ATP6V1C2 EXON Silent,Missense_E319K exm172417 2 10918722 [A/G] NM_144583,NM_001039362 ATP6V1C2,ATP6V1C2 EXON Missense_V284M,Missense_V330M exm172424 2 10922388 [T/C] NM_144583,NM_001039362 ATP6V1C2,ATP6V1C2 EXON Missense_F315L,Missense_F361L exm172428 2 10922478 [T/G] NM_144583,NM_001039362 ATP6V1C2,ATP6V1C2 EXON Missense_V345L,Missense_V391L exm172438 2 10924397 [T/C] NM_144583,NM_001039362,NM_005742 ATP6V1C2,ATP6V1C2,PDIA6 EXON Silent,Silent,Missense_K437R exm172440 2 10924446 [T/C] NM_144583,NM_001039362,NM_005742 ATP6V1C2,ATP6V1C2,PDIA6 EXON Silent,Silent,Missense_V421M exm172448 2 10925095 [A/C] NM_144583,NM_001039362,NM_005742 ATP6V1C2,ATP6V1C2,PDIA6 EXON Silent,Silent,Missense_V407F exm172456 2 10927473 [A/G] NM_005742 PDIA6 EXON Missense_A364V exm-rs1734422 2 10932207 [A/C] NM_005742 PDIA6 Silent exm172499 2 10933272 [T/C] NM_005742 PDIA6 EXON Missense_V135M exm172533 2 11052656 [T/G] NM_002236 KCNF1 EXON Missense_V35G exm172561 2 11053538 [T/C] NM_002236 KCNF1 EXON Missense_M329T exm172582 2 11053937 [T/C] NM_002236 KCNF1 EXON Missense_P462L exm-rs6432155 2 11103159 [A/G] exm2269018 2 11114343 [T/C] exm-rs6739054 2 11220562 [A/G] exm172622 2 11273626 [C/G] NM_182500 C2orf50 EXON Missense_R56G exm172636 2 11284116 [T/C] NM_182500 C2orf50 EXON Missense_T123M exm172639 2 11284170 [A/G] NM_182500 C2orf50 EXON Missense_R141H exm172640 2 11284184 [T/C] NM_182500 C2orf50 EXON Missense_F146L exm172642 2 11284200 [A/G] NM_182500 C2orf50 EXON Missense_R151Q exm172649 2 11295716 [T/G] NM_152391 PQLC3 EXON Missense_G15V exm172661 2 11300771 [A/G] NM_152391 PQLC3 EXON Missense_I83V exm172662 2 11300792 [A/G] NM_152391 PQLC3 EXON Missense_V90M exm172674 2 11312136 [T/C] NM_152391 PQLC3 EXON Missense_A147V exm172677 2 11312170 [A/C] NM_152391 PQLC3 EXON Synonymous_A158A exm172681 2 11315092 [A/G] NM_152391 PQLC3 Silent exm172685 2 11317922 [T/C] NM_152391 PQLC3 EXON Missense_R193C exm172686 2 11317929 [A/G] NM_152391 PQLC3 EXON Missense_R195Q exm2273351 2 11323276 [T/C] NM_004850 ROCK2 EXON Silent exm172694 2 11332338 [T/C] NM_004850 ROCK2 EXON Missense_M1367V exm172698 2 11332422 [T/G] NM_004850 ROCK2 EXON Missense_K1339Q exm172715 2 11337314 [C/G] NM_004850 ROCK2 EXON Missense_G1147A exm172721 2 11338668 [A/C] NM_004850 ROCK2 EXON Missense_I1016M exm172740 2 11348524 [C/G] NM_004850 ROCK2 EXON Missense_E751D exm172750 2 11354539 [T/C] NM_004850 ROCK2 EXON Missense_A663T exm172758 2 11355100 [A/T] NM_004850 ROCK2 EXON Missense_D601V exm172769 2 11359120 [T/G] NM_004850 ROCK2 EXON Missense_T431N exm172775 2 11361477 [C/G] NM_004850 ROCK2 EXON Missense_A369G exm172778 2 11364488 [T/C] NM_004850 ROCK2 EXON Missense_K323E exm172783 2 11376037 [T/G] NM_004850 ROCK2 EXON Missense_M172L exm172787 2 11389842 [A/C] NM_004850 ROCK2 EXON Missense_F136C exm172796 2 11484142 [T/C] NM_004850 ROCK2 EXON Missense_I41V exm2254476 2 11500314 [A/C] exm172806 2 11586641 [A/G] NR_003095,NM_198256,NR_003093,NR_003094,NR_003092 E2F6,E2F6,E2F6,E2F6,E2F6 EXON Silent,Missense_P270S,Silent,Silent,Silent exm1976416 2 11587794 [A/G] NR_003095,NM_198256,NR_003093,NR_003094,NR_003092 E2F6,E2F6,E2F6,E2F6,E2F6 EXON Silent,Missense_T253I,Silent,Silent,Silent exm172850 2 11702661 [A/C] NM_014668,NM_148903,NM_033090 GREB1,GREB1,GREB1 EXON Missense_N77T,Missense_N77T,Missense_N77T exm172851 2 11702695 [G/C] NM_014668,NM_148903,NM_033090 GREB1,GREB1,GREB1 EXON Missense_C88W,Missense_C88W,Missense_C88W exm172858 2 11706672 [T/C] NM_014668,NM_148903,NM_033090 GREB1,GREB1,GREB1 EXON Missense_A115V,Missense_A115V,Missense_A115V exm172861 2 11706693 [T/C] NM_014668,NM_148903,NM_033090 GREB1,GREB1,GREB1 EXON Missense_V122A,Missense_V122A,Missense_V122A exm172862 2 11706711 [T/C] NM_014668,NM_148903,NM_033090 GREB1,GREB1,GREB1 EXON Missense_P128L,Missense_P128L,Missense_P128L exm172865 2 11706718 [T/G] NM_014668,NM_148903,NM_033090 GREB1,GREB1,GREB1 EXON Missense_H130Q,Missense_H130Q,Missense_H130Q exm172885 2 11718499 [A/C] NM_014668,NM_148903,NM_033090 GREB1,GREB1,GREB1 EXON Missense_F238L,Missense_F238L,Missense_F238L exm172888 2 11718512 [A/G] NM_014668,NM_148903,NM_033090 GREB1,GREB1,GREB1 EXON Missense_V243I,Missense_V243I,Missense_V243I exm172890 2 11718522 [T/C] NM_014668,NM_148903,NM_033090 GREB1,GREB1,GREB1 EXON Missense_T246M,Missense_T246M,Missense_T246M exm172895 2 11720838 [T/C] NM_014668,NM_148903,NM_033090 GREB1,GREB1,GREB1 EXON Missense_S261P,Missense_S261P,Missense_S261P exm172899 2 11720886 [A/G] NM_014668,NM_148903,NM_033090 GREB1,GREB1,GREB1 EXON Missense_G277S,Missense_G277S,Missense_G277S exm172912 2 11725903 [A/C] NM_014668,NM_148903,NM_033090 GREB1,GREB1,GREB1 EXON Missense_S344Y,Missense_S344Y,Missense_S344Y exm172914 2 11725908 [A/G] NM_014668,NM_148903,NM_033090 GREB1,GREB1,GREB1 EXON Missense_V346M,Missense_V346M,Missense_V346M exm172917 2 11725947 [T/C] NM_014668,NM_148903,NM_033090 GREB1,GREB1,GREB1 EXON Missense_F359L,Missense_F359L,Missense_F359L exm172924 2 11727507 [A/G] NM_014668,NM_148903,NM_033090 GREB1,GREB1,GREB1 Silent,Silent,Silent exm172926 2 11727568 [A/G] NM_014668,NM_148903,NM_033090 GREB1,GREB1,GREB1 EXON Silent,Missense_R407Q,Silent exm172930 2 11728938 [T/C] NM_014668,NM_033090 GREB1,GREB1 EXON Missense_T409M,Missense_T409M exm172975 2 11736305 [A/G] NM_014668 GREB1 EXON Missense_A632T exm172985 2 11738081 [T/C] NM_014668 GREB1 EXON Missense_T710I exm173000 2 11740961 [T/C] NM_014668 GREB1 EXON Missense_P790L exm173017 2 11750870 [T/C] NM_014668 GREB1 EXON Missense_A908V exm173021 2 11750960 [C/G] NM_014668 GREB1 EXON Missense_S938C exm173035 2 11751118 [A/G] NM_014668 GREB1 EXON Missense_V991I exm173047 2 11755347 [A/G] NM_014668 GREB1 EXON Missense_E1085K exm173055 2 11756801 [T/C] NM_014668 GREB1 EXON Missense_R1123C exm173056 2 11756802 [A/G] NM_014668 GREB1 EXON Missense_R1123H exm173058 2 11756845 [T/C] NM_014668 GREB1 EXON Synonymous_S1137S exm173062 2 11758425 [A/G] NM_014668 GREB1 EXON Missense_G1142S exm173064 2 11758429 [A/G] NM_014668 GREB1 EXON Missense_G1143D exm173065 2 11758431 [A/G] NM_014668 GREB1 EXON Missense_E1144K exm173069 2 11758459 [T/C] NM_014668 GREB1 EXON Missense_P1153L exm173088 2 11758642 [T/C] NM_014668 GREB1 EXON Missense_S1214L exm173098 2 11758707 [A/G] NM_014668 GREB1 EXON Missense_A1236T exm173099 2 11758717 [T/C] NM_014668 GREB1 EXON Missense_T1239M exm173111 2 11758904 [C/G] NM_014668 GREB1 EXON Missense_K1301N exm173114 2 11758948 [T/C] NM_014668 GREB1 EXON Missense_T1316M exm173132 2 11765378 [A/G] NM_014668 GREB1 EXON Missense_D1416N exm173138 2 11767089 [C/G] NM_014668 GREB1 EXON Missense_D1436E exm173140 2 11767103 [A/G] NM_014668 GREB1 EXON Missense_R1441Q exm173141 2 11767109 [T/C] NM_014668 GREB1 EXON Missense_P1443L exm173151 2 11767171 [A/G] NM_014668 GREB1 EXON Missense_N1464D exm173178 2 11774324 [A/G] NM_014668 GREB1 EXON Missense_D1687N exm173182 2 11774391 [A/G] NM_014668 GREB1 EXON Missense_Q1709R exm173190 2 11775439 [A/G] NM_014668 GREB1 EXON Missense_A1752T exm1976726 2 11775518 [T/A] NM_014668 GREB1 EXON Missense_H1778L exm173219 2 11780551 [T/C] NM_014668 GREB1 EXON Missense_L1941F exm173232 2 11798675 [A/G] NM_012344 NTSR2 EXON Missense_P388L exm173234 2 11798684 [T/C] NM_012344 NTSR2 EXON Missense_R385Q exm173236 2 11798694 [T/G] NM_012344 NTSR2 EXON Missense_P382T exm173237 2 11798697 [A/G] NM_012344 NTSR2 EXON Missense_H381Y exm1976744 2 11798794 [A/G] NM_012344 NTSR2 EXON Synonymous_Y348Y exm173244 2 11798839 [T/G] NM_012344 NTSR2 EXON Nonsense_Y333X exm173248 2 11800191 [T/C] NM_012344 NTSR2 EXON Missense_V323I exm173255 2 11800247 [A/G] NM_012344 NTSR2 EXON Missense_V304A exm173258 2 11802105 [T/C] NM_012344 NTSR2 EXON Missense_V296I exm173262 2 11802146 [T/C] NM_012344 NTSR2 EXON Missense_R282K exm173264 2 11802167 [T/C] NM_012344 NTSR2 EXON Missense_G275E exm173268 2 11802234 [T/G] NM_012344 NTSR2 EXON Missense_R253S exm173276 2 11809681 [T/C] NM_012344 NTSR2 EXON Missense_R192Q exm173282 2 11809894 [A/G] NM_012344 NTSR2 EXON Missense_A121V exm173292 2 11810166 [T/C] NM_012344 NTSR2 EXON Nonsense_W30X exm173298 2 11905710 [A/G] NM_001261428,NM_001261429,NM_001261427,NM_145693 LPIN1,LPIN1,LPIN1,LPIN1 EXON Missense_V64M,Missense_V21M,Missense_V21M,Missense_V15M exm173300 2 11905740 [A/G] NM_001261428,NM_001261429,NM_001261427,NM_145693 LPIN1,LPIN1,LPIN1,LPIN1 EXON Missense_A74T,Missense_A31T,Missense_A31T,Missense_A25T exm173301 2 11905786 [A/G] NM_001261428,NM_001261429,NM_001261427,NM_145693 LPIN1,LPIN1,LPIN1,LPIN1 EXON Missense_N89S,Missense_N46S,Missense_N46S,Missense_N40S exm173303 2 11905843 [A/G] NM_001261428,NM_001261429,NM_001261427,NM_145693 LPIN1,LPIN1,LPIN1,LPIN1 EXON Missense_R108H,Missense_R65H,Missense_R65H,Missense_R59H exm173314 2 11911550 [T/C] NM_001261428,NM_001261429,NM_001261427,NM_145693 LPIN1,LPIN1,LPIN1,LPIN1 EXON Missense_S163L,Missense_S120L,Missense_S120L,Missense_S114L exm173320 2 11911643 [T/C] NM_001261428,NM_001261429,NM_001261427,NM_145693 LPIN1,LPIN1,LPIN1,LPIN1 EXON Missense_T194M,Missense_T151M,Missense_T151M,Missense_T145M exm173324 2 11911772 [T/C] NM_001261428,NM_001261429,NM_001261427,NM_145693 LPIN1,LPIN1,LPIN1,LPIN1 EXON Missense_S237L,Missense_S194L,Missense_S194L,Missense_S188L exm173336 2 11919668 [A/C] NM_001261428,NM_001261429,NM_001261427,NM_145693 LPIN1,LPIN1,LPIN1,LPIN1 EXON Missense_T334K,Missense_T291K,Missense_T255K,Missense_T249K exm173351 2 11922534 [A/G] NM_001261428,NM_001261429,NM_001261427,NM_145693 LPIN1,LPIN1,LPIN1,LPIN1 EXON Missense_A438T,Missense_A395T,Missense_A359T,Missense_A353T exm173355 2 11922594 [G/C] NM_001261428,NM_001261429,NM_001261427,NM_145693 LPIN1,LPIN1,LPIN1,LPIN1 EXON Missense_Q458E,Missense_Q415E,Missense_Q379E,Missense_Q373E exm173356 2 11923961 [A/G] NM_001261428,NM_001261429,NM_001261427,NM_145693 LPIN1,LPIN1,LPIN1,LPIN1 EXON Missense_R473Q,Missense_R430Q,Missense_R394Q,Missense_R388Q exm2236181 2 11925128 [A/G] NM_001261428,NM_001261427,NM_145693 LPIN1,LPIN1,LPIN1 EXON Missense_D541G,Missense_D462G,Missense_D456G exm173368 2 11927238 [A/G] NM_001261428,NM_001261427,NM_145693 LPIN1,LPIN1,LPIN1 EXON Missense_V579M,Missense_V500M,Missense_V494M exm173375 2 11932055 [A/G] NM_001261428,NM_001261427,NM_145693 LPIN1,LPIN1,LPIN1 EXON Missense_I626V,Missense_I547V,Missense_I541V exm173380 2 11935579 [A/G] NM_001261428,NM_001261427,NM_145693 LPIN1,LPIN1,LPIN1 EXON Missense_G667R,Missense_G588R,Missense_G582R exm1976908 2 11935592 [T/C] NM_001261428,NM_001261427,NM_145693 LPIN1,LPIN1,LPIN1 EXON Missense_P671L,Missense_P592L,Missense_P586L exm173388 2 11943039 [T/G] NM_001261428,NM_001261427,NM_145693 LPIN1,LPIN1,LPIN1 EXON Missense_K680N,Missense_K601N,Missense_K595N exm173389 2 11943068 [A/G] NM_001261428,NM_001261427,NM_145693 LPIN1,LPIN1,LPIN1 EXON Missense_R690H,Missense_R611H,Missense_R605H exm173391 2 11943070 [A/G] NM_001261428,NM_001261427,NM_145693 LPIN1,LPIN1,LPIN1 EXON Missense_A691T,Missense_A612T,Missense_A606T exm173392 2 11943082 [T/C] NM_001261428,NM_001261427,NM_145693 LPIN1,LPIN1,LPIN1 EXON Missense_P695S,Missense_P616S,Missense_P610S exm173396 2 11943118 [A/G] NM_001261428,NM_001261427,NM_145693 LPIN1,LPIN1,LPIN1 EXON Missense_V707I,Missense_V628I,Missense_V622I exm-rs17605562 2 12037179 [T/C] exm2269019 2 12149887 [T/C] exm2261018 2 12384394 [T/C] exm-rs10929808 2 12568996 [A/G] exm2254533 2 12621757 [A/G] exm-rs1534422 2 12640741 [A/G] exm-rs1000053 2 12790328 [T/C] exm173445 2 12858444 [A/G] NR_027303,NM_021643 TRIB2,TRIB2 EXON Silent,Missense_H4R exm173447 2 12858505 [A/C] NR_027303,NM_021643 TRIB2,TRIB2 EXON Silent,Missense_F24L exm173449 2 12858516 [T/C] NR_027303,NM_021643 TRIB2,TRIB2 EXON Silent,Missense_S28L exm173456 2 12863419 [T/G] NR_027303,NM_021643 TRIB2,TRIB2 EXON Silent,Missense_A102S exm2265117 2 13052225 [A/G] exm2261046 2 13492068 [T/G] exm2269020 2 13652731 [T/C] exm2265297 2 14116991 [A/G] exm2269021 2 14537835 [T/C] exm2261078 2 14756349 [A/G] exm173496 2 14774243 [A/G] NM_145175 FAM84A EXON Missense_R47H exm173508 2 14774623 [A/G] NM_145175 FAM84A EXON Missense_V174M exm2254689 2 14774871 [A/C] NM_145175 FAM84A EXON Synonymous_T256T exm173518 2 14774912 [A/G] NM_145175 FAM84A EXON Missense_R270H exm2269022 2 15284746 [T/C] exm173525 2 15307240 [T/C] NR_052013,NM_015909 NBAS,NBAS EXON Silent,Missense_V2350M exm173530 2 15307356 [T/C] NR_052013,NM_015909 NBAS,NBAS EXON Silent,Missense_R2311H exm173534 2 15319114 [T/C] NR_052013,NM_015909 NBAS,NBAS EXON Silent,Missense_T2280A exm173536 2 15319125 [A/G] NR_052013,NM_015909 NBAS,NBAS EXON Silent,Missense_T2276M exm173538 2 15319147 [T/C] NR_052013,NM_015909 NBAS,NBAS EXON Silent,Missense_E2269K exm173539 2 15319162 [C/G] NR_052013,NM_015909 NBAS,NBAS EXON Silent,Missense_D2264H exm173548 2 15326897 [A/C] NR_052013,NM_015909 NBAS,NBAS EXON Silent,Missense_L2227W exm173560 2 15358939 [A/C] NR_052013,NM_015909 NBAS,NBAS EXON Silent,Missense_F2130L exm173571 2 15372562 [T/C] NR_052013,NM_015909 NBAS,NBAS EXON Silent,Missense_A2074T exm173577 2 15374784 [T/C] NR_052013,NM_015909 NBAS,NBAS EXON Silent,Missense_D2011N exm173583 2 15374831 [T/C] NR_052013,NM_015909 NBAS,NBAS EXON Silent,Missense_R1995Q exm2265299 2 15384392 [A/G] NR_052013,NM_015909 NBAS,NBAS Silent,Silent exm173604 2 15415778 [A/G] NR_052013,NM_015909 NBAS,NBAS EXON Silent,Nonsense_Q1852X exm173608 2 15415867 [T/G] NR_052013,NM_015909 NBAS,NBAS EXON Silent,Missense_N1822T exm173613 2 15417035 [A/G] NR_052013,NM_015909 NBAS,NBAS EXON Silent,Missense_C1777R exm173615 2 15417151 [A/G] NR_052013,NM_015909 NBAS,NBAS EXON Silent,Missense_A1738V exm1986907 2 15417152 [T/C] NR_052013,NM_015909 NBAS,NBAS EXON Silent,Missense_A1738T exm173622 2 15427225 [A/G] NR_052013,NM_015909 NBAS,NBAS EXON Silent,Missense_H1704Y exm1986908 2 15427245 [A/C] NR_052013,NM_015909 NBAS,NBAS EXON Silent,Missense_R1697L exm173631 2 15432775 [T/C] NR_052013,NM_015909 NBAS,NBAS EXON Silent,Missense_R1638H exm173637 2 15432841 [T/C] NR_052013,NM_015909 NBAS,NBAS EXON Silent,Missense_H1616R exm173639 2 15432866 [T/C] NR_052013,NM_015909 NBAS,NBAS EXON Silent,Missense_M1608V exm173645 2 15448396 [T/G] NR_052013,NM_015909 NBAS,NBAS EXON Silent,Missense_Q1581K exm173660 2 15468351 [A/G] NR_052013,NM_015909 NBAS,NBAS EXON Silent,Missense_S1478F exm173662 2 15468409 [T/C] NR_052013,NM_015909 NBAS,NBAS EXON Silent,Missense_I1459V exm173663 2 15468425 [A/C] NR_052013,NM_015909 NBAS,NBAS EXON Silent,Missense_C1453W exm173664 2 15468426 [T/C] NR_052013,NM_015909 NBAS,NBAS EXON Silent,Missense_C1453Y exm173672 2 15470732 [T/C] NR_052013,NM_015909 NBAS,NBAS EXON Silent,Missense_R1446Q exm173673 2 15470775 [T/C] NR_052013,NM_015909 NBAS,NBAS EXON Silent,Missense_V1432I exm173678 2 15470841 [T/C] NR_052013,NM_015909 NBAS,NBAS EXON Silent,Missense_T1410A exm173682 2 15492151 [T/C] NR_052013,NM_015909 NBAS,NBAS EXON Silent,Missense_S1382G exm173697 2 15496430 [T/C] NR_052013,NM_015909 NBAS,NBAS EXON Silent,Missense_T1310A exm173704 2 15496525 [T/C] NR_052013,NM_015909 NBAS,NBAS EXON Silent,Missense_E1278G exm173708 2 15506766 [T/G] NR_052013,NM_015909 NBAS,NBAS EXON Silent,Missense_S1252Y exm173720 2 15519924 [T/C] NR_052013,NM_015909 NBAS,NBAS EXON Silent,Missense_R1131H exm173725 2 15523386 [T/C] NR_052013,NM_015909 NBAS,NBAS EXON Silent,Missense_M1105V exm1986970 2 15523409 [A/G] NR_052013,NM_015909 NBAS,NBAS EXON Silent,Missense_T1097M exm173732 2 15534391 [A/G] NR_052013,NM_015909 NBAS,NBAS EXON Silent,Missense_R1073C exm173740 2 15542296 [A/G] NR_052013,NM_015909 NBAS,NBAS EXON Silent,Missense_Y1023H exm173742 2 15542324 [T/G] NR_052013,NM_015909 NBAS,NBAS EXON Silent,Missense_D1013E exm173743 2 15542337 [C/G] NR_052013,NM_015909 NBAS,NBAS EXON Silent,Missense_C1009S exm2236419 2 15542383 [T/C] NR_052013,NM_015909 NBAS,NBAS EXON Silent,Missense_I994V exm173753 2 15555762 [G/C] NR_052013,NM_015909 NBAS,NBAS EXON Silent,Missense_V949L exm173754 2 15555770 [A/G] NR_052013,NM_015909 NBAS,NBAS EXON Silent,Missense_S946L exm173765 2 15557664 [A/G] NR_052013,NM_015909 NBAS,NBAS EXON Silent,Missense_L917S exm173772 2 15564486 [T/C] NR_052013,NM_015909 NBAS,NBAS EXON Silent,Missense_D844N exm173773 2 15564503 [A/G] NR_052013,NM_015909 NBAS,NBAS EXON Silent,Missense_T838M exm173786 2 15601897 [A/G] NR_052013,NM_015909 NBAS,NBAS EXON Silent,Missense_H706Y exm173790 2 15607494 [A/G] NR_052013,NM_015909 NBAS,NBAS EXON Silent,Missense_R686W exm173791 2 15607786 [A/G] NR_052013,NM_015909 NBAS,NBAS Silent,Silent exm173795 2 15607842 [T/C] NR_052013,NM_015909 NBAS,NBAS EXON Silent,Missense_K655R exm173799 2 15607903 [A/T] NR_052013,NM_015909 NBAS,NBAS EXON Silent,Missense_I635F exm173806 2 15613369 [T/C] NR_052013,NM_015909 NBAS,NBAS EXON Silent,Missense_V568I exm173807 2 15613402 [A/G] NR_052013,NM_015909 NBAS,NBAS EXON Silent,Missense_Y557H exm173813 2 15614226 [A/G] NR_052013,NM_015909 NBAS,NBAS EXON Silent,Missense_R522C exm173818 2 15614340 [A/G] NR_052013,NM_015909 NBAS,NBAS EXON Silent,Missense_R484C exm173827 2 15614442 [T/C] NR_052013,NM_015909 NBAS,NBAS EXON Silent,Missense_I450V exm173835 2 15615971 [T/C] NR_052013,NM_015909 NBAS,NBAS EXON Silent,Missense_N394S exm173843 2 15629038 [T/C] NR_052013,NM_015909 NBAS,NBAS EXON Silent,Missense_E355K exm173847 2 15644333 [A/G] NR_052013,NM_015909 NBAS,NBAS EXON Silent,Missense_P297L exm173852 2 15651467 [A/G] NR_052013,NM_015909 NBAS,NBAS EXON Silent,Missense_L252F exm-rs7581919 2 15664756 [T/C] NR_052013,NM_015909 NBAS,NBAS Silent,Silent exm173854 2 15674686 [T/C] NR_052013,NM_015909 NBAS,NBAS EXON Silent,Missense_I243V exm173875 2 15679468 [A/G] NR_052013,NM_015909 NBAS,NBAS EXON Silent,Missense_P131L exm173893 2 15698746 [C/G] NR_052013,NM_015909 NBAS,NBAS EXON Silent,Missense_Q44E exm173901 2 15701421 [T/G] NR_052013,NM_015909 NBAS,NBAS EXON Silent,Missense_A3D exm173909 2 15735621 [A/G] NM_004939 DDX1 EXON Missense_T26A exm173921 2 15744572 [A/G] NM_004939 DDX1 EXON Missense_M188I exm173929 2 15746322 [C/G] NM_004939 DDX1 EXON Missense_P251A exm173951 2 15758387 [C/G] NM_004939 DDX1 EXON Missense_R400T exm173964 2 15763640 [A/G] NM_004939 DDX1 EXON Missense_I510V exm173980 2 15769725 [A/G] NM_004939 DDX1 Silent exm173992 2 15770913 [A/T] NM_004939 DDX1 EXON Missense_K702N exm1987200 2 15770968 [A/G] NM_004939 DDX1 EXON Missense_E721K exm2263886 2 15807637 [A/C] exm-rs7586898 2 15961599 [G/C] exm174020 2 16082465 [C/G] NM_005378 MYCN EXON Missense_E93D exm1987841 2 16085885 [T/C] NM_005378 MYCN EXON Missense_A354V exm174051 2 16085917 [G/C] NM_005378 MYCN EXON Missense_P365A exm1987844 2 16086208 [C/G] NM_005378 MYCN EXON Missense_R462G exm-rs956968 2 16138879 [T/C] exm2269253 2 16169350 [T/C] exm-rs1367158 2 16590965 [T/C] exm2269024 2 16726739 [T/C] exm174074 2 16740728 [A/G] NM_030797 FAM49A EXON Synonymous_D279D exm174086 2 16742741 [A/G] NM_030797 FAM49A EXON Missense_R166C exm2261106 2 16889372 [T/G] exm2269255 2 17476540 [T/G] exm174112 2 17696573 [T/C] NM_001099218 RAD51AP2 EXON Missense_G1037D exm174113 2 17696580 [T/C] NM_001099218 RAD51AP2 EXON Missense_I1035V exm174114 2 17696583 [T/C] NM_001099218 RAD51AP2 EXON Missense_T1034A exm174121 2 17696756 [T/C] NM_001099218 RAD51AP2 EXON Missense_R976H exm174122 2 17696761 [T/A] NM_001099218 RAD51AP2 EXON Missense_E974D exm174123 2 17696802 [A/C] NM_001099218 RAD51AP2 EXON Missense_D961Y exm174125 2 17696855 [A/G] NM_001099218 RAD51AP2 EXON Missense_F943S exm174130 2 17696957 [T/C] NM_001099218 RAD51AP2 EXON Missense_R909K exm174137 2 17697057 [C/G] NM_001099218 RAD51AP2 EXON Missense_V876L exm174140 2 17697119 [T/A] NM_001099218 RAD51AP2 EXON Missense_K855M exm174143 2 17697168 [A/C] NM_001099218 RAD51AP2 EXON Missense_V839F exm174145 2 17697216 [T/C] NM_001099218 RAD51AP2 EXON Missense_E823K exm174148 2 17697252 [T/C] NM_001099218 RAD51AP2 EXON Missense_I811V exm174152 2 17697404 [A/C] NM_001099218 RAD51AP2 EXON Missense_S760I exm174157 2 17697446 [T/C] NM_001099218 RAD51AP2 EXON Missense_R746Q exm174159 2 17697635 [T/C] NM_001099218 RAD51AP2 EXON Missense_E683G exm174167 2 17697870 [T/C] NM_001099218 RAD51AP2 EXON Missense_E605K exm174173 2 17698085 [T/C] NM_001099218 RAD51AP2 EXON Missense_C533Y exm174174 2 17698091 [A/G] NM_001099218 RAD51AP2 EXON Missense_T531I exm174176 2 17698213 [C/G] NM_001099218 RAD51AP2 EXON Missense_Q490H exm174177 2 17698220 [A/G] NM_001099218 RAD51AP2 EXON Missense_T488I exm174193 2 17698652 [T/C] NM_001099218 RAD51AP2 EXON Missense_D344G exm174201 2 17698896 [A/G] NM_001099218 RAD51AP2 EXON Missense_P263S exm174203 2 17698904 [A/G] NM_001099218 RAD51AP2 EXON Missense_P260L exm1990737 2 17699240 [T/C] NM_001099218 RAD51AP2 EXON Missense_S148N exm174218 2 17699403 [T/C] NM_001099218 RAD51AP2 EXON Missense_V94I exm174219 2 17699417 [T/C] NM_001099218 RAD51AP2 EXON Missense_C89Y exm174230 2 17699602 [A/T] NM_001099218 RAD51AP2 EXON Missense_D27E exm174239 2 17699658 [A/G] NM_001099218 RAD51AP2 EXON Missense_R9W exm-rs2710684 2 17814030 [T/C] NM_003385 VSNL1 Silent exm174259 2 17846775 [T/G] NM_001142286,NM_024624 SMC6,SMC6 EXON Missense_D1089E,Missense_D1089E exm174266 2 17860200 [G/C] NM_001142286,NM_024624 SMC6,SMC6 EXON Missense_D946H,Missense_D946H exm174273 2 17876420 [T/G] NM_001142286,NM_024624 SMC6,SMC6 EXON Synonymous_R893R,Synonymous_R893R exm174284 2 17884495 [T/C] NM_001142286,NM_024624 SMC6,SMC6 EXON Missense_A691T,Missense_A691T exm174297 2 17896147 [T/C] NM_001142286,NM_024624 SMC6,SMC6 EXON Missense_I571V,Missense_I571V exm174298 2 17896156 [A/G] NM_001142286,NM_024624 SMC6,SMC6 EXON Missense_R568W,Missense_R568W exm2254806 2 17896256 [A/G] NM_001142286,NM_024624 SMC6,SMC6 EXON Synonymous_Y534Y,Synonymous_Y534Y exm1990999 2 17897434 [C/G] NM_001142286,NM_024624 SMC6,SMC6 EXON Missense_P482A,Missense_P482A exm174305 2 17897488 [T/C] NM_001142286,NM_024624 SMC6,SMC6 EXON Missense_R464G,Missense_R464G exm174310 2 17898146 [T/C] NM_001142286,NM_024624 SMC6,SMC6 EXON Missense_R403Q,Missense_R403Q exm174337 2 17927101 [T/G] NM_001142286,NM_024624 SMC6,SMC6 EXON Missense_T38N,Missense_T38N exm174351 2 17941352 [A/G] NM_182625,NM_001130009 GEN1,GEN1 EXON Missense_V48I,Missense_V48I exm174354 2 17942775 [A/T] NM_182625,NM_001130009 GEN1,GEN1 EXON Missense_S92T,Missense_S92T exm174359 2 17946243 [A/G] NM_182625,NM_001130009 GEN1,GEN1 EXON Missense_N143S,Missense_N143S exm174367 2 17947886 [A/G] NM_182625,NM_001130009 GEN1,GEN1 EXON Missense_S189N,Missense_S189N exm174368 2 17947927 [A/G] NM_182625,NM_001130009 GEN1,GEN1 EXON Missense_I203V,Missense_I203V exm174372 2 17952471 [A/G] NM_182625,NM_001130009 GEN1,GEN1 EXON Missense_R240Q,Missense_R240Q exm174373 2 17952501 [T/C] NM_182625,NM_001130009 GEN1,GEN1 EXON Missense_P250L,Missense_P250L exm174377 2 17953922 [A/G] NM_182625,NM_001130009 GEN1,GEN1 EXON Missense_R275H,Missense_R275H exm174381 2 17954003 [A/G] NM_182625,NM_001130009 GEN1,GEN1 EXON Missense_R302H,Missense_R302H exm174382 2 17954027 [A/G] NM_182625,NM_001130009 GEN1,GEN1 EXON Missense_S310N,Missense_S310N exm174384 2 17954397 [A/G] NM_182625,NM_001130009 GEN1,GEN1 EXON Missense_E330K,Missense_E330K exm174389 2 17955547 [T/C] NM_182625,NM_001130009 GEN1,GEN1 EXON Missense_L361F,Missense_L361F exm174403 2 17962005 [C/G] NM_182625,NM_001130009 GEN1,GEN1 EXON Missense_S509W,Missense_S509W exm174414 2 17962376 [T/G] NM_182625,NM_001130009 GEN1,GEN1 EXON Missense_S633A,Missense_S633A exm174420 2 17962518 [T/C] NM_182625,NM_001130009 GEN1,GEN1 EXON Missense_T680I,Missense_T680I exm174425 2 17962577 [A/G] NM_182625,NM_001130009 GEN1,GEN1 EXON Missense_I700V,Missense_I700V exm174434 2 17962914 [A/G] NM_182625,NM_001130009 GEN1,GEN1 EXON Missense_K812R,Missense_K812R exm174436 2 17962928 [A/G] NM_182625,NM_001130009 GEN1,GEN1 EXON Missense_T817A,Missense_T817A exm174437 2 17962994 [A/G] NM_182625,NM_001130009 GEN1,GEN1 EXON Missense_K839E,Missense_K839E exm174443 2 17963098 [T/G] NM_182625,NM_001130009 GEN1,GEN1 EXON Missense_S873R,Missense_S873R exm174444 2 17963109 [A/C] NM_182625,NM_001130009 GEN1,GEN1 EXON Missense_S877Y,Missense_S877Y exm174445 2 17963123 [A/G] NM_182625,NM_001130009 GEN1,GEN1 EXON Missense_K882E,Missense_K882E exm174446 2 17963131 [A/C] NM_182625,NM_001130009 GEN1,GEN1 EXON Missense_E884D,Missense_E884D exm174447 2 17963165 [A/C] NM_182625,NM_001130009 GEN1,GEN1 EXON Missense_P896T,Missense_P896T exm174448 2 17963171 [T/C] NM_182625,NM_001130009 GEN1,GEN1 EXON Missense_R898C,Missense_R898C exm174449 2 17963172 [A/G] NM_182625,NM_001130009 GEN1,GEN1 EXON Missense_R898H,Missense_R898H exm174455 2 17997801 [G/C] NM_001105569 MSGN1 EXON Missense_E6Q exm174457 2 17997813 [A/G] NM_001105569 MSGN1 EXON Missense_S10G exm174467 2 17998025 [A/T] NM_001105569 MSGN1 EXON Missense_E80D exm1991966 2 17998027 [C/G] NM_001105569 MSGN1 EXON Missense_G81A exm174468 2 17998095 [T/C] NM_001105569 MSGN1 EXON Missense_H104Y exm2269026 2 18044028 [T/C] exm174484 2 18112301 [A/G] NM_002252 KCNS3 EXON Missense_R9H exm2254826 2 18112314 [T/C] NM_002252 KCNS3 EXON Synonymous_D13D exm174487 2 18112355 [A/C] NM_002252 KCNS3 EXON Missense_S27Y exm174489 2 18112418 [A/G] NM_002252 KCNS3 EXON Missense_H48R exm174507 2 18112637 [A/G] NM_002252 KCNS3 EXON Missense_Y121C exm174508 2 18112645 [T/C] NM_002252 KCNS3 EXON Missense_R124C exm174512 2 18112706 [C/G] NM_002252 KCNS3 EXON Missense_S144C exm174515 2 18112763 [A/G] NM_002252 KCNS3 EXON Missense_R163Q exm174518 2 18112837 [A/G] NM_002252 KCNS3 EXON Missense_A188T exm174519 2 18112840 [A/G] NM_002252 KCNS3 EXON Missense_I189V exm174529 2 18112990 [A/G] NM_002252 KCNS3 EXON Missense_V239I exm174547 2 18113420 [T/C] NM_002252 KCNS3 EXON Missense_A382V exm1992069 2 18113606 [A/G] NM_002252 KCNS3 EXON Missense_Y444C exm174555 2 18113614 [T/C] NM_002252 KCNS3 EXON Missense_R447W exm174556 2 18113615 [A/G] NM_002252 KCNS3 EXON Missense_R447Q exm174557 2 18113619 [A/G] NM_002252 KCNS3 EXON Missense_M448I exm174559 2 18113623 [A/G] NM_002252 KCNS3 EXON Missense_T450A exm-rs16984239 2 18234446 [A/C] exm-rs10168917 2 18336233 [A/G] exm2265120 2 18520021 [A/G] exm-rs7580332 2 18540644 [A/G] exm2269256 2 18637078 [T/C] exm174576 2 18736630 [T/C] NM_001199103,NM_020905,NM_001199104 NT5C1B-RDH14,RDH14,NT5C1B-RDH14 EXON Missense_V594I,Missense_V280I,Silent exm174583 2 18736719 [A/G] NM_001199103,NM_020905,NM_001199104 NT5C1B-RDH14,RDH14,NT5C1B-RDH14 EXON Missense_V564A,Missense_V250A,Silent exm174585 2 18736747 [T/A] NM_001199103,NM_020905,NM_001199104 NT5C1B-RDH14,RDH14,NT5C1B-RDH14 EXON Missense_T555S,Missense_T241S,Silent exm174586 2 18736767 [T/C] NM_001199103,NM_020905,NM_001199104 NT5C1B-RDH14,RDH14,NT5C1B-RDH14 EXON Missense_R548H,Missense_R234H,Silent exm174595 2 18736950 [T/C] NM_001199103,NM_020905,NM_001199104 NT5C1B-RDH14,RDH14,NT5C1B-RDH14 EXON Missense_N487S,Missense_N173S,Silent exm174613 2 18745087 [A/C] NM_001199103,NM_001199104,NM_001199088,NM_001002006,NM_001199087,NM_033253,NM_001199086 NT5C1B-RDH14,NT5C1B-RDH14,NT5C1B,NT5C1B,NT5C1B,NT5C1B,NT5C1B EXON Silent,Silent,Missense_G605V,Missense_G603V,Missense_G620V,Missense_G543V,Missense_G586V exm174618 2 18745214 [T/C] NM_001199103,NM_001199104,NM_001199088,NM_001002006,NM_001199087,NM_033253,NM_001199086 NT5C1B-RDH14,NT5C1B-RDH14,NT5C1B,NT5C1B,NT5C1B,NT5C1B,NT5C1B EXON Silent,Missense_E561K,Missense_E563K,Missense_E561K,Missense_E578K,Missense_E501K,Missense_E544K exm174621 2 18745234 [T/C] NM_001199103,NM_001199104,NM_001199088,NM_001002006,NM_001199087,NM_033253,NM_001199086 NT5C1B-RDH14,NT5C1B-RDH14,NT5C1B,NT5C1B,NT5C1B,NT5C1B,NT5C1B EXON Silent,Missense_R554H,Missense_R556H,Missense_R554H,Missense_R571H,Missense_R494H,Missense_R537H exm174639 2 18758057 [A/G] NM_001199103,NM_001199104,NM_001199088,NM_001002006,NM_001199087,NM_033253,NM_001199086 NT5C1B-RDH14,NT5C1B-RDH14,NT5C1B,NT5C1B,NT5C1B,NT5C1B,NT5C1B EXON Nonsense_Q378X,Nonsense_Q436X,Nonsense_Q438X,Nonsense_Q436X,Nonsense_Q453X,Nonsense_Q376X,Nonsense_Q419X exm174643 2 18758132 [T/C] NM_001199103,NM_001199104,NM_001199088,NM_001002006,NM_001199087,NM_033253,NM_001199086 NT5C1B-RDH14,NT5C1B-RDH14,NT5C1B,NT5C1B,NT5C1B,NT5C1B,NT5C1B EXON Missense_G353R,Missense_G411R,Missense_G413R,Missense_G411R,Missense_G428R,Missense_G351R,Missense_G394R exm174647 2 18758146 [T/C] NM_001199103,NM_001199104,NM_001199088,NM_001002006,NM_001199087,NM_033253,NM_001199086 NT5C1B-RDH14,NT5C1B-RDH14,NT5C1B,NT5C1B,NT5C1B,NT5C1B,NT5C1B EXON Missense_R348H,Missense_R406H,Missense_R408H,Missense_R406H,Missense_R423H,Missense_R346H,Missense_R389H exm174649 2 18758156 [G/C] NM_001199103,NM_001199104,NM_001199088,NM_001002006,NM_001199087,NM_033253,NM_001199086 NT5C1B-RDH14,NT5C1B-RDH14,NT5C1B,NT5C1B,NT5C1B,NT5C1B,NT5C1B EXON Missense_L345V,Missense_L403V,Missense_L405V,Missense_L403V,Missense_L420V,Missense_L343V,Missense_L386V exm174652 2 18764135 [A/G] NM_001199103,NM_001199104,NM_001199088,NM_001002006,NM_001199087,NM_033253,NM_001199086 NT5C1B-RDH14,NT5C1B-RDH14,NT5C1B,NT5C1B,NT5C1B,NT5C1B,NT5C1B EXON Synonymous_Y342Y,Synonymous_Y400Y,Synonymous_Y402Y,Synonymous_Y400Y,Synonymous_Y417Y,Synonymous_Y340Y,Synonymous_Y383Y exm174661 2 18765398 [T/C] NM_001199103,NM_001199104,NM_001199088,NM_001002006,NM_001199087,NM_033253,NM_001199086 NT5C1B-RDH14,NT5C1B-RDH14,NT5C1B,NT5C1B,NT5C1B,NT5C1B,NT5C1B EXON Missense_E285K,Missense_E343K,Missense_E345K,Missense_E343K,Missense_E360K,Missense_E283K,Missense_E326K exm174670 2 18765866 [C/G] NM_001199103,NM_001199104,NM_001199088,NM_001002006,NM_001199087,NM_033253,NM_001199086 NT5C1B-RDH14,NT5C1B-RDH14,NT5C1B,NT5C1B,NT5C1B,NT5C1B,NT5C1B EXON Missense_E215Q,Missense_E273Q,Missense_E275Q,Missense_E273Q,Missense_E290Q,Missense_E213Q,Missense_E256Q exm174695 2 18767581 [T/C] NM_001199103,NM_001199104,NM_001199088,NM_001002006,NM_001199087,NM_033253,NM_001199086 NT5C1B-RDH14,NT5C1B-RDH14,NT5C1B,NT5C1B,NT5C1B,NT5C1B,NT5C1B EXON Missense_R66Q,Missense_R126Q,Missense_R126Q,Missense_R126Q,Missense_R143Q,Missense_R66Q,Missense_R109Q exm2236808 2 18767606 [A/G] NM_001199103,NM_001199104,NM_001199088,NM_001002006,NM_001199087,NM_033253,NM_001199086 NT5C1B-RDH14,NT5C1B-RDH14,NT5C1B,NT5C1B,NT5C1B,NT5C1B,NT5C1B EXON Missense_R58C,Missense_R118C,Missense_R118C,Missense_R118C,Missense_R135C,Missense_R58C,Missense_R101C exm174698 2 18767621 [A/G] NM_001199103,NM_001199104,NM_001199088,NM_001002006,NM_001199087,NM_033253,NM_001199086 NT5C1B-RDH14,NT5C1B-RDH14,NT5C1B,NT5C1B,NT5C1B,NT5C1B,NT5C1B EXON Nonsense_R53X,Nonsense_R113X,Nonsense_R113X,Nonsense_R113X,Nonsense_R130X,Nonsense_R53X,Nonsense_R96X exm174700 2 18767638 [A/G] NM_001199103,NM_001199104,NM_001199088,NM_001002006,NM_001199087,NM_033253,NM_001199086 NT5C1B-RDH14,NT5C1B-RDH14,NT5C1B,NT5C1B,NT5C1B,NT5C1B,NT5C1B EXON Missense_L47P,Missense_L107P,Missense_L107P,Missense_L107P,Missense_L124P,Missense_L47P,Missense_L90P exm174707 2 18768318 [T/C] NM_001199103,NM_001199104,NM_001199088,NM_001002006,NM_001199087,NM_033253,NM_001199086 NT5C1B-RDH14,NT5C1B-RDH14,NT5C1B,NT5C1B,NT5C1B,NT5C1B,NT5C1B EXON Silent,Missense_R81H,Missense_R81H,Missense_R81H,Missense_R81H,Silent,Missense_R64H exm174711 2 18768421 [G/C] NM_001199103,NM_001199104,NM_001199088,NM_001002006,NM_001199087,NM_033253,NM_001199086 NT5C1B-RDH14,NT5C1B-RDH14,NT5C1B,NT5C1B,NT5C1B,NT5C1B,NT5C1B EXON Silent,Missense_P47A,Missense_P47A,Missense_P47A,Missense_P47A,Silent,Silent exm174712 2 18768432 [T/C] NM_001199103,NM_001199104,NM_001199088,NM_001002006,NM_001199087,NM_033253,NM_001199086 NT5C1B-RDH14,NT5C1B-RDH14,NT5C1B,NT5C1B,NT5C1B,NT5C1B,NT5C1B EXON Silent,Missense_R43H,Missense_R43H,Missense_R43H,Missense_R43H,Silent,Silent exm174717 2 18768828 [T/A] NM_001199103,NM_001199104,NM_001199088,NM_001002006,NM_001199087,NM_033253,NM_001199086 NT5C1B-RDH14,NT5C1B-RDH14,NT5C1B,NT5C1B,NT5C1B,NT5C1B,NT5C1B EXON Missense_S21C,Missense_S21C,Missense_S21C,Missense_S21C,Missense_S21C,Missense_S21C,Missense_S21C exm174718 2 18768849 [T/C] NM_001199103,NM_001199104,NM_001199088,NM_001002006,NM_001199087,NM_033253,NM_001199086 NT5C1B-RDH14,NT5C1B-RDH14,NT5C1B,NT5C1B,NT5C1B,NT5C1B,NT5C1B EXON Missense_G14R,Missense_G14R,Missense_G14R,Missense_G14R,Missense_G14R,Missense_G14R,Missense_G14R exm174720 2 18768853 [G/C] NM_001199103,NM_001199104,NM_001199088,NM_001002006,NM_001199087,NM_033253,NM_001199086 NT5C1B-RDH14,NT5C1B-RDH14,NT5C1B,NT5C1B,NT5C1B,NT5C1B,NT5C1B EXON Missense_E12D,Missense_E12D,Missense_E12D,Missense_E12D,Missense_E12D,Missense_E12D,Missense_E12D exm2269027 2 18893327 [T/C] exm2265300 2 19096394 [A/G] exm-rs1876040 2 19134748 [A/G] exm2269028 2 19521472 [T/C] exm174727 2 19552065 [C/G] NM_145260 OSR1 EXON Missense_E258Q exm174734 2 19553104 [T/G] NM_145260 OSR1 EXON Missense_K155Q exm-rs16986953 2 19942473 [A/G] exm2269257 2 19989521 [T/C] exm174761 2 20096767 [T/C] NM_001008237 TTC32 EXON Missense_N146S exm174767 2 20096846 [G/C] NM_001008237 TTC32 EXON Missense_D120H exm174789 2 20101492 [T/C] NM_001008237 TTC32 EXON Missense_A42T exm174813 2 20113444 [T/C] NM_001006657,NM_020779 WDR35,WDR35 EXON Missense_V1141I,Missense_V1130I exm174815 2 20113825 [T/C] NM_001006657,NM_020779 WDR35,WDR35 EXON Missense_K1123R,Missense_K1112R exm174818 2 20113838 [T/C] NM_001006657,NM_020779 WDR35,WDR35 EXON Missense_K1119E,Missense_K1108E exm174820 2 20113881 [C/G] NM_001006657,NM_020779 WDR35,WDR35 EXON Missense_Q1104H,Missense_Q1093H exm174823 2 20113967 [T/A] NM_001006657,NM_020779 WDR35,WDR35 EXON Missense_C1076S,Missense_C1065S exm174831 2 20130252 [C/G] NM_001006657,NM_020779 WDR35,WDR35 EXON Missense_T1020R,Missense_T1009R exm174833 2 20130259 [A/G] NM_001006657,NM_020779 WDR35,WDR35 EXON Missense_R1018C,Missense_R1007C exm174839 2 20131058 [T/C] NM_001006657,NM_020779 WDR35,WDR35 EXON Missense_R990Q,Missense_R979Q exm174841 2 20131079 [T/C] NM_001006657,NM_020779 WDR35,WDR35 EXON Missense_E983G,Missense_E972G exm174846 2 20131131 [A/G] NM_001006657,NM_020779 WDR35,WDR35 EXON Missense_R966C,Missense_R955C exm1994256 2 20132090 [T/C] NM_001006657,NM_020779 WDR35,WDR35 EXON Missense_Y937C,Missense_Y926C exm174853 2 20132189 [A/G] NM_001006657,NM_020779 WDR35,WDR35 EXON Missense_L904S,Missense_L893S exm174856 2 20133193 [C/G] NM_001006657,NM_020779 WDR35,WDR35 EXON Missense_A887G,Missense_A876G exm174858 2 20133221 [T/C] NM_001006657,NM_020779 WDR35,WDR35 EXON Missense_A878T,Missense_A867T exm1994262 2 20133254 [A/C] NM_001006657,NM_020779 WDR35,WDR35 EXON Missense_V867F,Missense_V856F exm174860 2 20135321 [A/G] NM_001006657,NM_020779 WDR35,WDR35 EXON Missense_R831C,Missense_R820C exm174863 2 20135366 [T/C] NM_001006657,NM_020779 WDR35,WDR35 Silent,Silent exm174877 2 20137622 [T/C] NM_001006657,NM_020779 WDR35,WDR35 EXON Missense_I728V,Missense_I717V exm174881 2 20137705 [T/C] NM_001006657,NM_020779 WDR35,WDR35 EXON Missense_R700H,Missense_R689H exm174882 2 20137706 [A/G] NM_001006657,NM_020779 WDR35,WDR35 EXON Missense_R700C,Missense_R689C exm2236891 2 20141585 [A/G] NM_001006657,NM_020779 WDR35,WDR35 EXON Missense_S632P,Missense_S621P exm174891 2 20146255 [T/C] NM_001006657,NM_020779 WDR35,WDR35 EXON Missense_R545Q,Missense_R534Q exm174892 2 20146265 [C/G] NM_001006657,NM_020779 WDR35,WDR35 EXON Missense_L542V,Missense_L531V exm174903 2 20153619 [T/C] NM_001006657,NM_020779 WDR35,WDR35 EXON Missense_R470Q,Missense_R459Q exm1994425 2 20153664 [T/C] NM_001006657,NM_020779 WDR35,WDR35 EXON Missense_R455H,Missense_R444H exm174913 2 20153732 [A/C] NM_001006657,NM_020779 WDR35,WDR35 EXON Missense_L432F,Missense_L421F exm174914 2 20160322 [A/C] NM_001006657,NM_020779 WDR35,WDR35 EXON Missense_I427M,Missense_I416M exm174917 2 20162057 [A/G] NM_001006657,NM_020779 WDR35,WDR35 EXON Missense_T409M,Silent exm174921 2 20166496 [T/A] NM_001006657,NM_020779 WDR35,WDR35 EXON Missense_N395Y,Missense_N395Y exm174928 2 20166607 [T/C] NM_001006657,NM_020779 WDR35,WDR35 EXON Missense_V358I,Missense_V358I exm1994430 2 20166621 [C/G] NM_001006657,NM_020779 WDR35,WDR35 EXON Missense_R353P,Missense_R353P exm174929 2 20166628 [G/C] NM_001006657,NM_020779 WDR35,WDR35 EXON Missense_P351A,Missense_P351A exm174940 2 20173436 [A/G] NM_001006657,NM_020779 WDR35,WDR35 EXON Missense_V257A,Missense_V257A exm2236905 2 20174240 [T/C] NM_001006657,NM_020779 WDR35,WDR35 EXON Missense_E242G,Missense_E242G exm174956 2 20178641 [T/C] NM_001006657,NM_020779 WDR35,WDR35 Silent,Silent exm2236906 2 20182293 [A/C] NM_001006657,NM_020779 WDR35,WDR35 EXON Missense_D49Y,Missense_D49Y exm174961 2 20189002 [A/C] NM_001006657,NM_020779 WDR35,WDR35 EXON Missense_W22C,Missense_W22C exm174962 2 20189015 [T/C] NM_001006657,NM_020779 WDR35,WDR35 EXON Missense_Q18R,Missense_Q18R exm174978 2 20197017 [T/C] NM_002381 MATN3 EXON Missense_R391H exm174979 2 20197018 [A/G] NM_002381 MATN3 EXON Missense_R391C exm174982 2 20200274 [A/C] NM_002381 MATN3 EXON Missense_D366Y exm174984 2 20200287 [T/G] NM_002381 MATN3 EXON Missense_H361Q exm174991 2 20202930 [A/G] NM_002381 MATN3 EXON Missense_T303M exm174992 2 20202957 [T/C] NM_002381 MATN3 EXON Missense_G294E exm174995 2 20203046 [T/C] NM_002381 MATN3 EXON Synonymous_A264A exm174998 2 20205541 [T/C] NM_002381 MATN3 EXON Missense_E252K exm175001 2 20205612 [A/G] NM_002381 MATN3 EXON Missense_A228V exm175002 2 20205624 [T/C] NM_002381 MATN3 EXON Missense_R224Q exm1994604 2 20205636 [A/G] NM_002381 MATN3 EXON Missense_V220A exm175009 2 20205769 [A/C] NM_002381 MATN3 EXON Missense_V176L exm2254898 2 20205965 [A/G] NM_002381 MATN3 EXON Synonymous_I110I exm175017 2 20205991 [A/C] NM_002381 MATN3 EXON Missense_V102L exm2254901 2 20233014 [A/G] NM_014713 LAPTM4A EXON Synonymous_A218A exm175025 2 20233014 [A/G] NM_014713 LAPTM4A EXON Synonymous_A218A exm1994735 2 20234122 [A/C] NM_014713 LAPTM4A EXON Missense_V195L exm175057 2 20251260 [A/G] NM_014713 LAPTM4A EXON Missense_R8W exm-rs7565124 2 20261685 [A/G] exm2269030 2 20396122 [T/C] exm175064 2 20402626 [T/C] NM_001006946,NM_002997 SDC1,SDC1 EXON Missense_M278I,Missense_M278I exm175069 2 20402890 [T/C] NM_001006946,NM_002997 SDC1,SDC1 EXON Missense_G241R,Missense_G241R exm1995202 2 20402938 [T/C] NM_001006946,NM_002997 SDC1,SDC1 EXON Missense_V225M,Missense_V225M exm175071 2 20402961 [T/C] NM_001006946,NM_002997 SDC1,SDC1 EXON Missense_G217E,Missense_G217E exm175072 2 20402964 [A/G] NM_001006946,NM_002997 SDC1,SDC1 EXON Missense_S216L,Missense_S216L exm175073 2 20403611 [A/G] NM_001006946,NM_002997 SDC1,SDC1 EXON Missense_S197F,Missense_S197F exm175081 2 20403741 [T/G] NM_001006946,NM_002997 SDC1,SDC1 EXON Missense_H154N,Missense_H154N exm175084 2 20403794 [T/A] NM_001006946,NM_002997 SDC1,SDC1 EXON Missense_L136Q,Missense_L136Q exm175091 2 20403855 [T/C] NM_001006946,NM_002997 SDC1,SDC1 EXON Missense_A116T,Missense_A116T exm175100 2 20403957 [T/C] NM_001006946,NM_002997 SDC1,SDC1 EXON Missense_G82S,Missense_G82S exm175102 2 20403974 [A/G] NM_001006946,NM_002997 SDC1,SDC1 EXON Missense_T76M,Missense_T76M exm175105 2 20403998 [A/G] NM_001006946,NM_002997 SDC1,SDC1 EXON Missense_T68M,Missense_T68M exm175110 2 20405176 [C/G] NM_001006946,NM_002997 SDC1,SDC1 EXON Missense_A26P,Missense_A26P exm1995363 2 20453591 [T/C] NM_015317 PUM2 EXON Missense_M1019V exm175168 2 20494189 [T/C] NM_015317 PUM2 EXON Missense_N367S exm175169 2 20494190 [T/C] NM_015317 PUM2 EXON Missense_N367D exm175183 2 20508113 [T/C] NM_015317 PUM2 EXON Missense_A251T exm175189 2 20512016 [T/C] NM_015317 PUM2 EXON Missense_R110Q exm175195 2 20518340 [T/G] NM_015317 PUM2 EXON Missense_L40I exm175214 2 20647604 [T/G] NM_004040 RHOB EXON Missense_H126Q exm175215 2 20647678 [T/G] NM_004040 RHOB EXON Missense_I151S exm-rs13021401 2 20688519 [T/C] exm-rs2082871 2 20712300 [A/G] exm2269258 2 20775614 [T/C] exm175239 2 20818764 [T/C] NM_022460 HS1BP3 EXON Missense_A388T exm1995917 2 20818889 [A/C] NM_022460 HS1BP3 EXON Missense_V346G exm175267 2 20823759 [T/C] NM_022460 HS1BP3 EXON Missense_G273R exm175272 2 20824498 [T/C] NM_022460 HS1BP3 EXON Missense_V260M exm1995925 2 20824507 [T/C] NM_022460 HS1BP3 EXON Missense_V257M exm175279 2 20824605 [A/G] NM_022460 HS1BP3 EXON Missense_P224L exm175280 2 20824613 [T/G] NM_022460 HS1BP3 EXON Missense_K221N exm175293 2 20838254 [T/C] NM_022460 HS1BP3 EXON Missense_E189K exm175311 2 20840823 [A/G] NM_022460 HS1BP3 EXON Missense_R106W exm175314 2 20840864 [A/G] NM_022460 HS1BP3 EXON Missense_P92L exm175319 2 20840933 [T/G] NM_022460 HS1BP3 EXON Missense_K69T exm175326 2 20845146 [A/G] NM_022460 HS1BP3 EXON Missense_A51V exm175327 2 20845153 [C/G] NM_022460 HS1BP3 EXON Missense_L49V exm175329 2 20845183 [T/C] NM_022460 HS1BP3 EXON Missense_V39M exm175332 2 20845213 [T/C] NM_022460 HS1BP3 EXON Missense_E29K exm175337 2 20845263 [T/C] NM_022460 HS1BP3 EXON Missense_R12Q exm2269031 2 20863286 [T/C] exm175345 2 20867333 [A/G] NM_182828 GDF7 EXON Missense_A112T exm175346 2 20870226 [A/G] NM_182828 GDF7 EXON Missense_E132K exm1995987 2 20870361 [T/C] NM_182828 GDF7 EXON Missense_P177S exm175372 2 20870688 [A/G] NM_182828 GDF7 EXON Missense_A286T exm175384 2 20870922 [G/C] NM_182828 GDF7 EXON Missense_D364H exm-rs13385191 2 20888265 [A/G] NM_021925 C2orf43 Silent exm-rs4971516 2 20903015 [T/C] NM_021925 C2orf43 Silent exm2275565 2 20939928 [A/C] NM_021925 C2orf43 EXON Missense_R169L exm175410 2 20974570 [T/C] NM_021925 C2orf43 EXON Synonymous_P156P exm175411 2 20974571 [A/G] NM_021925 C2orf43 EXON Missense_P156L exm175412 2 20974586 [T/C] NM_021925 C2orf43 EXON Missense_R151Q exm175414 2 20974689 [T/C] NM_021925 C2orf43 EXON Missense_E117K exm175421 2 20990072 [T/C] NM_021925 C2orf43 EXON Missense_S81G exm175426 2 20990122 [A/G] NM_021925 C2orf43 EXON Missense_A64V exm175427 2 20990135 [A/G] NM_021925 C2orf43 EXON Missense_Y60H exm1996235 2 21001160 [T/C] NM_021925 C2orf43 EXON Missense_E22K exm-rs7569328 2 21100778 [T/C] exm-rs11902417 2 21198900 [A/G] exm-rs6544366 2 21204025 [T/G] exm-rs6754295 2 21206183 [T/G] exm175438 2 21224624 [C/G] NM_000384 APOB EXON Missense_G4557A exm175440 2 21224643 [A/G] NM_000384 APOB EXON Missense_Y4551H exm175445 2 21224843 [A/G] NM_000384 APOB EXON Missense_T4484M exm175449 2 21224853 [T/C] NM_000384 APOB EXON Missense_A4481T exm175451 2 21224925 [T/C] NM_000384 APOB EXON Missense_D4457N exm175453 2 21225006 [A/T] NM_000384 APOB EXON Missense_S4430T exm175457 2 21225111 [T/C] NM_000384 APOB EXON Missense_G4395S exm175458 2 21225113 [A/G] NM_000384 APOB EXON Missense_V4394A exm175462 2 21225192 [G/C] NM_000384 APOB EXON Missense_Q4368E exm175465 2 21225272 [T/A] NM_000384 APOB EXON Missense_I4341N exm175467 2 21225281 [T/C] NM_000384 APOB EXON Missense_S4338N exm175468 2 21225354 [T/C] NM_000384 APOB EXON Missense_I4314V exm175472 2 21225485 [G/C] NM_000384 APOB EXON Missense_R4270T exm175474 2 21225491 [A/G] NM_000384 APOB EXON Missense_M4268T exm175475 2 21225500 [A/G] NM_000384 APOB EXON Missense_V4265A exm175477 2 21225528 [T/C] NM_000384 APOB EXON Missense_E4256K exm175480 2 21225558 [A/C] NM_000384 APOB EXON Missense_F4246V exm175485 2 21225597 [T/A] NM_000384 APOB EXON Missense_S4233T exm175490 2 21225753 [T/C] NM_000384 APOB EXON Missense_E4181K exm175493 2 21225912 [T/C] NM_000384 APOB EXON Missense_V4128M exm175510 2 21227190 [A/G] NM_000384 APOB EXON Missense_M4013T exm1996542 2 21227212 [T/C] NM_000384 APOB EXON Missense_V4006I exm175514 2 21227221 [A/G] NM_000384 APOB EXON Missense_S4003P exm175524 2 21227503 [T/C] NM_000384 APOB EXON Missense_T3945A exm175526 2 21227517 [A/G] NM_000384 APOB EXON Missense_T3940M exm175531 2 21227979 [T/C] NM_000384 APOB EXON Missense_V3921I exm175538 2 21228171 [T/C] NM_000384 APOB EXON Missense_V3857M exm175543 2 21228263 [A/G] NM_000384 APOB EXON Missense_T3826M exm175547 2 21228339 [T/A] NM_000384 APOB EXON Missense_S3801T exm175549 2 21228386 [A/G] NM_000384 APOB EXON Missense_T3785I exm175552 2 21228483 [A/G] NM_000384 APOB EXON Missense_F3753L exm175554 2 21228507 [T/C] NM_000384 APOB EXON Missense_V3745I exm175565 2 21228827 [T/C] NM_000384 APOB EXON Missense_R3638Q exm175566 2 21228858 [A/T] NM_000384 APOB EXON Missense_N3628Y exm175570 2 21228960 [A/G] NM_000384 APOB EXON Missense_W3594R exm1996558 2 21229000 [A/G] NM_000384 APOB EXON Synonymous_N3580N exm175576 2 21229032 [A/G] NM_000384 APOB EXON Missense_H3570Y exm175579 2 21229068 [A/G] NM_000384 APOB EXON Missense_R3558C exm175583 2 21229160 [T/C] NM_000384 APOB EXON Missense_R3527Q exm175589 2 21229220 [G/C] NM_000384 APOB EXON Missense_R3507P exm175602 2 21229446 [C/G] NM_000384 APOB EXON Missense_Q3432E exm175618 2 21229803 [T/G] NM_000384 APOB EXON Missense_L3313I exm175620 2 21229857 [A/G] NM_000384 APOB EXON Missense_Y3295H exm175621 2 21229860 [A/G] NM_000384 APOB EXON Missense_S3294P exm175622 2 21229873 [T/G] NM_000384 APOB EXON Missense_D3289E exm175624 2 21229905 [T/C] NM_000384 APOB EXON Missense_S3279G exm175639 2 21230249 [A/G] NM_000384 APOB EXON Missense_T3164M exm175644 2 21230334 [A/G] NM_000384 APOB EXON Missense_R3136C exm175646 2 21230384 [T/C] NM_000384 APOB EXON Missense_G3119E exm175649 2 21230418 [T/C] NM_000384 APOB EXON Missense_E3108K exm175660 2 21230514 [T/G] NM_000384 APOB EXON Missense_L3076M exm2275566 2 21230600 [A/G] NM_000384 APOB EXON Missense_T3047M exm175670 2 21230828 [T/G] NM_000384 APOB EXON Missense_N2971T exm175672 2 21230858 [T/C] NM_000384 APOB EXON Missense_N2961S exm175681 2 21231190 [A/C] NM_000384 APOB EXON Missense_I2850M exm175686 2 21231278 [A/G] NM_000384 APOB EXON Missense_P2821L exm175691 2 21231387 [T/G] NM_000384 APOB EXON Missense_N2785H exm175693 2 21231431 [A/G] NM_000384 APOB EXON Missense_T2770I exm175695 2 21231446 [T/C] NM_000384 APOB EXON Missense_Q2765R exm175699 2 21231524 [A/G] NM_000384 APOB EXON Missense_P2739L exm175702 2 21231567 [T/G] NM_000384 APOB EXON Missense_T2725P exm175726 2 21232042 [G/C] NM_000384 APOB EXON Missense_E2566D exm175727 2 21232044 [T/C] NM_000384 APOB EXON Missense_E2566K exm175731 2 21232125 [T/C] NM_000384 APOB EXON Missense_V2539I exm1996596 2 21232409 [T/C] NM_000384 APOB EXON Missense_R2444H exm175743 2 21232455 [T/A] NM_000384 APOB EXON Missense_S2429T exm175744 2 21232498 [T/G] NM_000384 APOB EXON Missense_E2414D exm175746 2 21232559 [A/G] NM_000384 APOB EXON Missense_V2394A exm175754 2 21232803 [T/C] NM_000384 APOB EXON Missense_I2313V exm175757 2 21232845 [G/C] NM_000384 APOB EXON Missense_D2299H exm175759 2 21232865 [A/G] NM_000384 APOB EXON Missense_I2292T exm175760 2 21232872 [T/C] NM_000384 APOB EXON Missense_E2290K exm175766 2 21233009 [T/C] NM_000384 APOB EXON Missense_S2244N exm175785 2 21233604 [T/C] NM_000384 APOB EXON Missense_V2046I exm175794 2 21233721 [T/C] NM_000384 APOB EXON Missense_V2007M exm175798 2 21233804 [T/C] NM_000384 APOB EXON Missense_G1979D exm175802 2 21233972 [T/C] NM_000384 APOB EXON Missense_H1923R exm175806 2 21233999 [T/C] NM_000384 APOB EXON Missense_N1914S exm175808 2 21234050 [T/C] NM_000384 APOB EXON Missense_R1897H exm175815 2 21234141 [A/G] NM_000384 APOB EXON Missense_R1867W exm1996615 2 21234557 [T/C] NM_000384 APOB EXON Missense_N1728S exm175833 2 21234630 [T/C] NM_000384 APOB EXON Missense_A1704T exm175836 2 21234674 [T/C] NM_000384 APOB EXON Missense_R1689H exm175846 2 21234902 [G/C] NM_000384 APOB EXON Missense_S1613T exm175853 2 21235077 [T/C] NM_000384 APOB EXON Missense_I1555V exm175863 2 21235208 [A/G] NM_000384 APOB EXON Missense_T1511I exm175868 2 21235365 [T/C] NM_000384 APOB EXON Missense_S1459G exm175875 2 21235460 [T/C] NM_000384 APOB EXON Missense_R1427H exm175877 2 21235475 [T/C] NM_000384 APOB EXON Missense_Y1422C exm175886 2 21236085 [T/C] NM_000384 APOB EXON Missense_R1388H exm175903 2 21236405 [A/G] NM_000384 APOB EXON Synonymous_S1281S exm175908 2 21237422 [T/C] NM_000384 APOB EXON Missense_Y1247C exm175909 2 21237438 [T/A] NM_000384 APOB EXON Missense_S1242T exm175910 2 21237450 [T/G] NM_000384 APOB EXON Missense_L1238I exm-rs673548 2 21237544 [A/G] NM_000384 APOB Silent exm175912 2 21237965 [T/C] NM_000384 APOB EXON Missense_V1226M exm175914 2 21238007 [T/G] NM_000384 APOB EXON Missense_L1212M exm1996630 2 21238034 [T/C] NM_000384 APOB EXON Missense_S1203G exm175920 2 21238243 [A/G] NM_000384 APOB EXON Synonymous_Y1169Y exm175922 2 21238260 [T/C] NM_000384 APOB EXON Missense_R1164G exm175924 2 21238323 [A/G] NM_000384 APOB EXON Missense_P1143S exm175927 2 21238367 [T/C] NM_000384 APOB EXON Missense_R1128H exm175928 2 21238368 [A/G] NM_000384 APOB EXON Missense_R1128C exm175929 2 21238413 [G/C] NM_000384 APOB EXON Missense_D1113H exm175931 2 21239387 [T/C] NM_000384 APOB EXON Missense_G1086S exm175932 2 21239404 [T/C] NM_000384 APOB EXON Missense_N1080S exm175935 2 21239443 [A/G] NM_000384 APOB EXON Missense_P1067L exm175945 2 21241936 [T/G] NM_000384 APOB EXON Missense_S1017R exm175948 2 21242613 [A/G] NM_000384 APOB EXON Missense_P994L exm175954 2 21242680 [T/C] NM_000384 APOB EXON Missense_G972S exm2237028 2 21242731 [A/G] NM_000384 APOB EXON Missense_P955S exm175967 2 21245862 [T/C] NM_000384 APOB EXON Missense_N886S exm2275567 2 21245889 [A/G] NM_000384 APOB EXON Missense_P877L exm175971 2 21245908 [T/C] NM_000384 APOB EXON Missense_A871T exm175980 2 21247830 [T/C] NM_000384 APOB EXON Missense_R804H exm175987 2 21247983 [T/C] NM_000384 APOB EXON Missense_G753E exm175990 2 21249682 [T/G] NM_000384 APOB EXON Missense_T741N exm175992 2 21249700 [T/A] NM_000384 APOB EXON Missense_V735E exm176008 2 21250914 [A/G] NM_000384 APOB EXON Missense_A618V exm176010 2 21251199 [T/C] NM_000384 APOB EXON Missense_D610G exm176016 2 21251367 [A/G] NM_000384 APOB EXON Missense_P554L exm176020 2 21252534 [A/G] NM_000384 APOB EXON Missense_R532W exm176035 2 21255235 [A/G] NM_000384 APOB EXON Missense_A448V exm176039 2 21255268 [T/C] NM_000384 APOB EXON Missense_R437H exm176049 2 21256234 [T/C] NM_000384 APOB EXON Missense_E354G exm176053 2 21256370 [T/C] NM_000384 APOB EXON Missense_A309T exm176054 2 21256381 [T/C] NM_000384 APOB EXON Missense_K305R exm176056 2 21257697 [A/C] NM_000384 APOB EXON Missense_F299V exm176064 2 21258523 [T/C] NM_000384 APOB EXON Missense_A251T exm176065 2 21258573 [C/G] NM_000384 APOB EXON Missense_P234R exm176069 2 21260009 [T/C] NM_000384 APOB EXON Missense_R219H exm176072 2 21260024 [T/C] NM_000384 APOB EXON Missense_R214H exm176074 2 21260058 [T/C] NM_000384 APOB EXON Missense_I203V exm176075 2 21260059 [A/T] NM_000384 APOB EXON Missense_E202D exm176077 2 21260084 [A/G] NM_000384 APOB EXON Missense_T194M exm176078 2 21260091 [T/C] NM_000384 APOB EXON Missense_V192I exm176079 2 21260127 [A/C] NM_000384 APOB EXON Missense_D180Y exm176083 2 21260868 [A/G] NM_000384 APOB EXON Missense_P167S exm176087 2 21260934 [A/G] NM_000384 APOB EXON Missense_P145S exm176094 2 21263886 [A/G] NM_000384 APOB EXON Missense_Y103H exm176096 2 21263900 [A/G] NM_000384 APOB EXON Missense_T98I exm176097 2 21263905 [A/C] NM_000384 APOB EXON Missense_Q96H exm176098 2 21263908 [T/G] NM_000384 APOB EXON Missense_S95R exm1996737 2 21263910 [T/C] NM_000384 APOB EXON Missense_S95G exm-rs515135 2 21286057 [T/C] exm-rs562338 2 21288321 [A/G] exm-rs541041 2 21294975 [A/G] exm-rs4635554 2 21389659 [T/G] exm2265121 2 21527036 [A/G] exm-rs219553 2 21577743 [A/G] exm2254955 2 21685076 [T/C] exm-rs1117324 2 21840093 [T/C] exm2261174 2 21881282 [A/G] exm-rs4416248 2 22455521 [A/G] exm-rs17043947 2 22736987 [T/C] exm-rs13015955 2 22822159 [A/G] exm2261203 2 23020557 [A/G] exm2265123 2 23174479 [A/G] exm-rs2681019 2 23187504 [A/C] exm-rs1449984 2 23414651 [A/G] exm-rs2577720 2 23548614 [A/C] exm2261220 2 23701104 [A/G] NM_052920 KLHL29 Silent exm-rs4665220 2 23770693 [T/C] NM_052920 KLHL29 Silent exm2237332 2 23785133 [A/G] NM_052920 KLHL29 EXON Missense_V23I exm2237358 2 23865406 [T/C] NM_052920 KLHL29 EXON Missense_P209L exm-rs4665630 2 23898317 [T/C] NM_052920 KLHL29 Silent exm176182 2 23914544 [A/G] NM_052920 KLHL29 EXON Synonymous_R360R exm176184 2 23914569 [A/G] NM_052920 KLHL29 EXON Missense_G369S exm176219 2 23926627 [A/G] NM_052920 KLHL29 EXON Missense_V780I exm176229 2 23977086 [T/C] NM_001242338,NM_017552 ATAD2B,ATAD2B EXON Missense_R1428H,Missense_R1433H exm176231 2 23977145 [T/G] NM_001242338,NM_017552 ATAD2B,ATAD2B EXON Missense_N1408K,Missense_N1413K exm176234 2 23977552 [G/C] NM_001242338,NM_017552 ATAD2B,ATAD2B EXON Missense_V1386L,Missense_V1391L exm176238 2 23980305 [C/G] NM_001242338,NM_017552 ATAD2B,ATAD2B EXON Missense_A1349G,Missense_A1354G exm176239 2 23980315 [T/C] NM_001242338,NM_017552 ATAD2B,ATAD2B EXON Missense_V1346I,Missense_V1351I exm176254 2 23980698 [T/C] NM_001242338,NM_017552 ATAD2B,ATAD2B EXON Missense_N1218S,Missense_N1223S exm176256 2 23980759 [T/C] NM_001242338,NM_017552 ATAD2B,ATAD2B EXON Missense_M1198V,Missense_M1203V exm2011301 2 23980848 [A/G] NM_001242338,NM_017552 ATAD2B,ATAD2B EXON Missense_T1168M,Missense_T1173M exm176269 2 24009077 [T/G] NM_001242338,NM_017552 ATAD2B,ATAD2B EXON Missense_E931D,Missense_E931D exm176281 2 24042689 [T/C] NM_001242338,NM_017552 ATAD2B,ATAD2B EXON Missense_N732S,Missense_N732S exm176282 2 24042727 [A/C] NM_001242338,NM_017552 ATAD2B,ATAD2B EXON Missense_D719E,Missense_D719E exm176284 2 24046196 [T/C] NM_001242338,NM_017552 ATAD2B,ATAD2B EXON Missense_N688S,Missense_N688S exm176307 2 24090746 [T/C] NM_001242338,NM_017552 ATAD2B,ATAD2B EXON Missense_A383T,Missense_A383T exm176308 2 24090806 [T/C] NM_001242338,NM_017552 ATAD2B,ATAD2B EXON Missense_M363V,Missense_M363V exm176321 2 24108652 [T/C] NM_001242338,NM_017552 ATAD2B,ATAD2B EXON Missense_Q207R,Missense_Q207R exm176329 2 24118705 [A/G] NM_001242338,NM_017552 ATAD2B,ATAD2B EXON Missense_S118P,Missense_S118P exm176343 2 24194160 [T/G] NM_181713 UBXN2A EXON Missense_G19V exm176345 2 24194195 [T/C] NM_181713 UBXN2A EXON Missense_S31P exm176348 2 24194283 [A/G] NM_181713 UBXN2A EXON Missense_Q60R exm176350 2 24199858 [T/G] NM_181713 UBXN2A EXON Nonsense_L67X exm176352 2 24199887 [A/G] NM_181713 UBXN2A EXON Missense_D77N exm2013121 2 24199905 [A/G] NM_181713 UBXN2A EXON Missense_D83N exm176362 2 24205852 [T/C] NM_181713 UBXN2A EXON Missense_S125F exm176373 2 24222712 [G/C] NM_181713 UBXN2A EXON Missense_S252C exm176375 2 24222734 [G/C] NM_181713 UBXN2A EXON Missense_H259Q exm176378 2 24236165 [A/C] NM_001080473 MFSD2B EXON Missense_A36D exm176383 2 24236236 [A/G] NM_001080473 MFSD2B EXON Missense_A60T exm176393 2 24239812 [T/A] NM_001080473 MFSD2B EXON Missense_Y149N exm176402 2 24240390 [A/G] NM_001080473 MFSD2B EXON Missense_G205S exm176403 2 24240405 [T/C] NM_001080473 MFSD2B EXON Missense_H210Y exm176410 2 24244603 [A/G] NM_001080473 MFSD2B EXON Missense_R256Q exm176411 2 24244721 [T/C] NM_001080473 MFSD2B EXON Missense_P259S exm176426 2 24245713 [C/G] NM_001080473 MFSD2B EXON Missense_P334A exm176427 2 24245714 [T/C] NM_001080473 MFSD2B EXON Missense_P334L exm176428 2 24245720 [C/G] NM_001080473 MFSD2B EXON Missense_W336S exm176434 2 24246016 [T/C] NM_001080473 MFSD2B EXON Missense_A359V exm176443 2 24246518 [A/C] NM_001080473 MFSD2B EXON Missense_T412N exm176444 2 24246538 [A/G] NM_001080473 MFSD2B EXON Missense_V419I exm176448 2 24246987 [T/G] NM_001080473 MFSD2B EXON Missense_V446F exm176451 2 24247104 [A/C] NM_001080473 MFSD2B EXON Missense_P485T exm176453 2 24247138 [A/G] NM_001080473 MFSD2B EXON Missense_R496Q exm-rs7561273 2 24247514 [A/G] exm176461 2 24253941 [C/G] NM_001142319,NM_025203 C2orf44,C2orf44 EXON Silent,Missense_S676R exm176473 2 24260578 [T/C] NM_001142319,NM_025203 C2orf44,C2orf44 EXON Missense_Q596R,Missense_Q596R exm176474 2 24260648 [A/G] NM_001142319,NM_025203 C2orf44,C2orf44 EXON Missense_R573W,Missense_R573W exm176479 2 24260709 [G/C] NM_001142319,NM_025203 C2orf44,C2orf44 EXON Missense_K552N,Missense_K552N exm176489 2 24260860 [A/G] NM_001142319,NM_025203 C2orf44,C2orf44 EXON Missense_P502L,Missense_P502L exm176491 2 24260915 [T/C] NM_001142319,NM_025203 C2orf44,C2orf44 EXON Missense_T484A,Missense_T484A exm176509 2 24261532 [A/G] NM_001142319,NM_025203 C2orf44,C2orf44 EXON Missense_S278F,Missense_S278F exm176510 2 24261545 [A/C] NM_001142319,NM_025203 C2orf44,C2orf44 EXON Missense_S274A,Missense_S274A exm176529 2 24262060 [A/G] NM_001142319,NM_025203 C2orf44,C2orf44 EXON Missense_T102M,Missense_T102M exm176530 2 24262071 [T/G] NM_001142319,NM_025203 C2orf44,C2orf44 EXON Missense_S98R,Missense_S98R exm176535 2 24262331 [G/C] NM_001142319,NM_025203 C2orf44,C2orf44 EXON Missense_G12R,Missense_G12R exm176537 2 24262346 [T/G] NM_001142319,NM_025203 C2orf44,C2orf44 EXON Missense_K7Q,Missense_K7Q exm176579 2 24300517 [C/G] NM_147184,NM_004881,NM_001206802 TP53I3,TP53I3,TP53I3 EXON Missense_Q311E,Missense_Q311E,Missense_P245R exm176581 2 24300563 [T/C] NM_147184,NM_004881,NM_001206802 TP53I3,TP53I3,TP53I3 EXON Synonymous_Q295Q,Synonymous_Q295Q,Missense_T230A exm176586 2 24302317 [A/C] NM_147184,NM_004881,NM_001206802 TP53I3,TP53I3,TP53I3 EXON Missense_N271K,Missense_N271K,Silent exm176592 2 24302375 [G/C] NM_147184,NM_004881,NM_001206802 TP53I3,TP53I3,TP53I3 EXON Nonsense_S252X,Nonsense_S252X,Silent exm176597 2 24302463 [T/C] NM_147184,NM_004881,NM_001206802 TP53I3,TP53I3,TP53I3 EXON Missense_E223K,Missense_E223K,Silent exm176599 2 24303706 [A/G] NM_147184,NM_004881,NM_001206802 TP53I3,TP53I3,TP53I3 EXON Missense_T201M,Missense_T201M,Missense_T201M exm176600 2 24303723 [G/C] NM_147184,NM_004881,NM_001206802 TP53I3,TP53I3,TP53I3 EXON Missense_E195D,Missense_E195D,Missense_E195D exm176602 2 24305773 [A/G] NM_147184,NM_004881,NM_001206802 TP53I3,TP53I3,TP53I3 EXON Nonsense_Q130X,Nonsense_Q130X,Nonsense_Q130X exm176614 2 24305911 [T/C] NM_147184,NM_004881,NM_001206802 TP53I3,TP53I3,TP53I3 EXON Missense_D84N,Missense_D84N,Missense_D84N exm176645 2 24344072 [T/G] NM_199346 PFN4 EXON Missense_R72S exm176652 2 24344170 [A/C] NM_199346 PFN4 EXON Missense_V40L exm176657 2 24345324 [T/C] NM_199346 PFN4 EXON Missense_E28K exm176660 2 24358001 [C/G] NM_001145710 FAM228B EXON Missense_E38Q exm176676 2 24390517 [A/G] NM_001145710 FAM228B EXON Missense_G318D exm176689 2 24400738 [A/G] NM_001040710 FAM228A EXON Missense_K54R exm176694 2 24406176 [A/C] NM_001040710 FAM228A EXON Missense_D62A exm176701 2 24406430 [A/G] NM_001040710 FAM228A EXON Missense_Y106C exm176703 2 24413298 [A/G] NM_001040710 FAM228A EXON Missense_Y140C exm2014901 2 24413418 [T/G] NM_001040710 FAM228A EXON Missense_G180V exm2014902 2 24413441 [T/C] NM_001040710 FAM228A EXON Missense_R188W exm176722 2 24426578 [A/G] NM_006277,NM_019595 ITSN2,ITSN2 EXON Nonsense_R1671X,Nonsense_R1644X exm176723 2 24426581 [A/G] NM_006277,NM_019595 ITSN2,ITSN2 EXON Missense_R1670C,Missense_R1643C exm176724 2 24426587 [T/C] NM_006277,NM_019595 ITSN2,ITSN2 EXON Missense_M1668V,Missense_M1641V exm176728 2 24426634 [T/G] NM_006277,NM_019595 ITSN2,ITSN2 EXON Missense_E1652A,Missense_E1625A exm176748 2 24431111 [T/C] NM_006277,NM_019595 ITSN2,ITSN2 EXON Missense_Y1558C,Missense_Y1531C exm176749 2 24431123 [T/C] NM_006277,NM_019595 ITSN2,ITSN2 EXON Missense_R1554H,Missense_R1527H exm176751 2 24431127 [T/G] NM_006277,NM_019595 ITSN2,ITSN2 EXON Missense_K1553Q,Missense_K1526Q exm176752 2 24431163 [T/C] NM_006277,NM_019595 ITSN2,ITSN2 EXON Missense_A1541T,Missense_A1514T exm176764 2 24432688 [A/G] NM_006277,NM_019595 ITSN2,ITSN2 EXON Missense_T1491M,Missense_T1464M exm176771 2 24432793 [T/C] NM_006277,NM_019595 ITSN2,ITSN2 EXON Missense_N1456S,Missense_N1429S exm176786 2 24433806 [T/C] NM_006277,NM_019595 ITSN2,ITSN2 EXON Missense_N1367S,Missense_N1340S exm176788 2 24435520 [G/C] NM_006277,NM_019595 ITSN2,ITSN2 EXON Missense_S1363T,Missense_S1336T exm176791 2 24435599 [A/G] NM_006277,NM_019595 ITSN2,ITSN2 EXON Missense_R1337W,Missense_R1310W exm176800 2 24439031 [T/C] NM_006277,NM_019595 ITSN2,ITSN2 EXON Missense_A1293T,Missense_A1266T exm176802 2 24439048 [A/G] NM_006277,NM_019595 ITSN2,ITSN2 EXON Missense_I1287T,Missense_I1260T exm176803 2 24439060 [A/G] NM_006277,NM_019595 ITSN2,ITSN2 EXON Missense_P1283L,Missense_P1256L exm176808 2 24439094 [A/G] NM_006277,NM_019595 ITSN2,ITSN2 EXON Missense_R1272W,Missense_R1245W exm176818 2 24443897 [T/C] NM_006277,NM_019595,NM_147152 ITSN2,ITSN2,ITSN2 EXON Missense_I1206V,Missense_I1179V,Missense_I1206V exm176844 2 24475269 [A/G] NM_006277,NM_019595,NM_147152 ITSN2,ITSN2,ITSN2 EXON Missense_I1022T,Missense_I995T,Missense_I1022T exm2015162 2 24477250 [T/C] NM_006277,NM_019595,NM_147152 ITSN2,ITSN2,ITSN2 EXON Missense_Y980C,Missense_Y953C,Missense_Y980C exm176851 2 24483979 [C/G] NM_006277,NM_019595,NM_147152 ITSN2,ITSN2,ITSN2 EXON Missense_G893A,Missense_G866A,Missense_G893A exm176852 2 24483997 [T/G] NM_006277,NM_019595,NM_147152 ITSN2,ITSN2,ITSN2 EXON Missense_S887Y,Missense_S860Y,Missense_S887Y exm176872 2 24494634 [T/C] NM_006277,NM_019595,NM_147152 ITSN2,ITSN2,ITSN2 Silent,Silent,Silent exm176882 2 24498698 [G/C] NM_006277,NM_019595,NM_147152 ITSN2,ITSN2,ITSN2 EXON Missense_N655K,Missense_N628K,Missense_N655K exm176901 2 24521652 [T/C] NM_006277,NM_019595,NM_147152 ITSN2,ITSN2,ITSN2 EXON Missense_R459H,Missense_R459H,Missense_R459H exm176902 2 24521653 [A/G] NM_006277,NM_019595,NM_147152 ITSN2,ITSN2,ITSN2 EXON Missense_R459C,Missense_R459C,Missense_R459C exm176903 2 24521661 [T/C] NM_006277,NM_019595,NM_147152 ITSN2,ITSN2,ITSN2 EXON Missense_R456Q,Missense_R456Q,Missense_R456Q exm-rs6707600 2 24521766 [T/C] NM_006277,NM_019595,NM_147152 ITSN2,ITSN2,ITSN2 Silent,Silent,Silent exm176904 2 24522800 [T/C] NM_006277,NM_019595,NM_147152 ITSN2,ITSN2,ITSN2 EXON Missense_R441K,Missense_R441K,Missense_R441K exm176905 2 24522811 [A/C] NM_006277,NM_019595,NM_147152 ITSN2,ITSN2,ITSN2 EXON Missense_E437D,Missense_E437D,Missense_E437D exm176917 2 24524086 [T/C] NM_006277,NM_019595,NM_147152 ITSN2,ITSN2,ITSN2 EXON Missense_I340V,Missense_I340V,Missense_I340V exm2015267 2 24524088 [G/C] NM_006277,NM_019595,NM_147152 ITSN2,ITSN2,ITSN2 EXON Missense_S339C,Missense_S339C,Missense_S339C exm176922 2 24524958 [T/C] NM_006277,NM_019595,NM_147152 ITSN2,ITSN2,ITSN2 EXON Missense_V291I,Missense_V291I,Missense_V291I exm176924 2 24531519 [T/C] NM_006277,NM_019595,NM_147152 ITSN2,ITSN2,ITSN2 EXON Missense_T254A,Missense_T254A,Missense_T254A exm176933 2 24533360 [A/G] NM_006277,NM_019595,NM_147152 ITSN2,ITSN2,ITSN2 EXON Missense_S185L,Missense_S185L,Missense_S185L exm176956 2 24538088 [T/G] NM_006277,NM_019595,NM_147152 ITSN2,ITSN2,ITSN2 EXON Missense_P13T,Missense_P13T,Missense_P13T exm2265124 2 24563646 [A/G] NM_006277,NM_019595,NM_147152 ITSN2,ITSN2,ITSN2 Silent,Silent,Silent exm2261240 2 24692639 [A/G] exm-rs2165738 2 24692809 [G/C] exm177002 2 24929631 [A/G] NM_147223,NM_003743,NM_147233 NCOA1,NCOA1,NCOA1 EXON Missense_H431R,Missense_H431R,Missense_H431R exm177017 2 24930055 [T/A] NM_147223,NM_003743,NM_147233 NCOA1,NCOA1,NCOA1 EXON Missense_R572S,Missense_R572S,Missense_R572S exm177029 2 24930467 [G/C] NM_147223,NM_003743,NM_147233 NCOA1,NCOA1,NCOA1 EXON Missense_D710H,Missense_D710H,Missense_D710H exm177039 2 24933950 [A/G] NM_147223,NM_003743,NM_147233 NCOA1,NCOA1,NCOA1 EXON Missense_A857T,Missense_A857T,Missense_A857T exm177062 2 24962301 [T/C] NM_147223,NM_003743,NM_147233 NCOA1,NCOA1,NCOA1 EXON Synonymous_L1068L,Synonymous_L1068L,Synonymous_L1068L exm177081 2 24974856 [A/G] NM_147223,NM_003743,NM_147233 NCOA1,NCOA1,NCOA1 EXON Missense_V1238I,Missense_V1238I,Missense_V1238I exm177083 2 24974958 [T/C] NM_147223,NM_003743,NM_147233 NCOA1,NCOA1,NCOA1 EXON Missense_P1272S,Missense_P1272S,Missense_P1272S exm177084 2 24974959 [T/C] NM_147223,NM_003743,NM_147233 NCOA1,NCOA1,NCOA1 EXON Missense_P1272L,Missense_P1272L,Missense_P1272L exm177094 2 24985556 [A/C] NM_147223,NM_003743,NM_147233 NCOA1,NCOA1,NCOA1 EXON Missense_I1356L,Missense_I1356L,Missense_I1356L exm177096 2 24985617 [T/C] NM_147223,NM_003743,NM_147233 NCOA1,NCOA1,NCOA1 EXON Missense_L1376P,Missense_L1376P,Missense_L1376P exm177110 2 25013371 [T/G] NM_001013663 PTRHD1 EXON Missense_Q111P exm177111 2 25013402 [T/C] NM_001013663 PTRHD1 EXON Missense_K101E exm177132 2 25016350 [G/C] NM_001199803,NM_024322 CENPO,CENPO EXON Missense_G3A,Silent exm177134 2 25016829 [A/G] NM_001199803,NM_024322 CENPO,CENPO EXON Silent,Missense_K14R exm177135 2 25022588 [A/T] NM_001199803,NM_024322 CENPO,CENPO EXON Missense_S25T,Missense_S31T exm2016431 2 25022589 [A/C] NM_001199803,NM_024322 CENPO,CENPO EXON Missense_S25Y,Missense_S31Y exm177137 2 25022598 [A/G] NM_001199803,NM_024322 CENPO,CENPO EXON Missense_Q28R,Missense_Q34R exm177141 2 25022672 [T/C] NM_001199803,NM_024322 CENPO,CENPO EXON Nonsense_R53X,Nonsense_R59X exm177142 2 25022673 [A/G] NM_001199803,NM_024322 CENPO,CENPO EXON Missense_R53Q,Missense_R59Q exm177143 2 25022682 [T/C] NM_001199803,NM_024322 CENPO,CENPO EXON Missense_L56P,Missense_L62P exm177154 2 25037327 [A/G] NM_001199803,NM_024322 CENPO,CENPO EXON Missense_N94S,Missense_N100S exm177161 2 25038416 [A/G] NM_001199803,NM_024322 CENPO,CENPO EXON Missense_A123T,Missense_A129T exm177167 2 25038564 [T/G] NM_001199803,NM_024322 CENPO,CENPO EXON Missense_F172C,Missense_F178C exm177171 2 25038614 [C/G] NM_001199803,NM_024322 CENPO,CENPO EXON Missense_D189H,Missense_D195H exm177172 2 25038617 [T/C] NM_001199803,NM_024322 CENPO,CENPO EXON Missense_R190W,Missense_R196W exm177175 2 25039516 [A/G] NM_001199803,NM_024322 CENPO,CENPO EXON Missense_S193N,Missense_S199N exm177177 2 25039615 [T/C] NM_001199803,NM_024322 CENPO,CENPO EXON Missense_P226L,Missense_P232L exm177182 2 25040541 [T/G] NM_001199803,NM_024322 CENPO,CENPO EXON Missense_V251L,Missense_V257L exm177191 2 25040612 [C/G] NM_001199803,NM_024322 CENPO,CENPO EXON Missense_L274F,Missense_L280F exm2016591 2 25042941 [A/G] NM_001199803,NM_024322,NM_004036 CENPO,CENPO,ADCY3 EXON Silent,Silent,Missense_R1099C exm177204 2 25043610 [T/C] NM_001199803,NM_024322,NM_004036 CENPO,CENPO,ADCY3 EXON Silent,Silent,Missense_V1079I exm177218 2 25045383 [T/G] NM_004036 ADCY3 EXON Missense_N1000K exm2237483 2 25050786 [T/C] NM_004036 ADCY3 EXON Missense_R806H exm177264 2 25054532 [T/C] NM_004036 ADCY3 EXON Missense_R685Q exm2265125 2 25055774 [A/G] NM_004036 ADCY3 Silent exm177286 2 25059895 [C/G] NM_004036 ADCY3 EXON Missense_P518R exm177287 2 25061315 [A/G] NM_004036 ADCY3 EXON Missense_S511L exm2255266 2 25061350 [T/C] NM_004036 ADCY3 EXON Synonymous_V499V exm177306 2 25062875 [T/C] NM_004036 ADCY3 EXON Missense_G408R exm177311 2 25064193 [A/G] NM_004036 ADCY3 EXON Synonymous_P377P exm2255269 2 25064193 [A/G] NM_004036 ADCY3 EXON Synonymous_P377P exm177326 2 25095518 [A/C] NM_004036 ADCY3 EXON Missense_R249L exm177327 2 25095552 [T/C] NM_004036 ADCY3 EXON Missense_A238T exm2269259 2 25116977 [T/C] NM_004036 ADCY3 Silent exm177330 2 25141238 [T/C] NM_004036 ADCY3 EXON Missense_V207I exm177342 2 25141450 [T/C] NM_004036 ADCY3 EXON Missense_R136H exm177347 2 25141529 [T/C] NM_004036 ADCY3 EXON Missense_V110M exm177349 2 25141538 [A/G] NM_004036 ADCY3 EXON Missense_S107P exm-rs713586 2 25158008 [T/C] exm177378 2 25179912 [T/C] NM_016544,NM_001198559 DNAJC27,DNAJC27 EXON Synonymous_Q176Q,Synonymous_Q176Q exm177381 2 25179959 [A/C] NM_016544,NM_001198559 DNAJC27,DNAJC27 EXON Missense_F161V,Missense_F161V exm177388 2 25180786 [A/G] NM_016544,NM_001198559 DNAJC27,DNAJC27 EXON Nonsense_Q100X,Nonsense_Q100X exm-rs4665736 2 25187599 [T/C] NM_016544,NM_001198559 DNAJC27,DNAJC27 Silent,Silent exm177398 2 25194734 [A/G] NM_016544,NM_001198559 DNAJC27,DNAJC27 EXON Missense_S14P,Missense_S14P exm2018058 2 25194771 [T/C] NM_016544,NM_001198559 DNAJC27,DNAJC27 EXON Missense_M1I,Missense_M1I exm-rs6733301 2 25276284 [A/G] NM_014971 EFR3B Silent exm-rs12233132 2 25328703 [T/C] NM_014971 EFR3B Silent exm177416 2 25354712 [T/G] NM_014971 EFR3B EXON Missense_S360I exm-rs3731631 2 25359422 [A/G] NM_014971 EFR3B EXON Synonymous_L505L exm177425 2 25359453 [A/G] NM_014971 EFR3B EXON Missense_V516I exm177437 2 25367838 [A/G] NM_014971 EFR3B EXON Missense_R687H exm177456 2 25384086 [A/G] NM_001035256,NM_000939 POMC,POMC EXON Missense_M223T,Missense_M223T exm177458 2 25384092 [T/C] NM_001035256,NM_000939 POMC,POMC EXON Missense_Y221C,Missense_Y221C exm177462 2 25384138 [A/C] NM_001035256,NM_000939 POMC,POMC EXON Nonsense_E206X,Nonsense_E206X exm177484 2 25384493 [T/G] NM_001035256,NM_000939 POMC,POMC EXON Missense_F87L,Missense_F87L exm177485 2 25384499 [G/C] NM_001035256,NM_000939 POMC,POMC EXON Missense_D85E,Missense_D85E exm177507 2 25457242 [T/C] NM_153759,NM_022552,NM_175629 DNMT3A,DNMT3A,DNMT3A EXON Missense_R693H,Missense_R882H,Missense_R882H exm177543 2 25466800 [A/G] NM_153759,NM_022552,NM_175629 DNMT3A,DNMT3A,DNMT3A EXON Missense_R446W,Missense_R635W,Missense_R635W exm177559 2 25468174 [T/C] NM_153759,NM_022552,NM_175629 DNMT3A,DNMT3A,DNMT3A EXON Missense_N312S,Missense_N501S,Missense_N501S exm177565 2 25469073 [A/G] NM_153759,NM_022552,NM_175629 DNMT3A,DNMT3A,DNMT3A EXON Missense_A273V,Missense_A462V,Missense_A462V exm177604 2 25472526 [T/C] NM_153759,NM_022552,NM_175629 DNMT3A,DNMT3A,DNMT3A EXON Synonymous_T24T,Silent,Silent exm177607 2 25472552 [A/G] NM_153759,NM_022552,NM_175629 DNMT3A,DNMT3A,DNMT3A EXON Missense_R16C,Silent,Silent exm2269034 2 25482883 [T/C] NM_022552,NM_175629 DNMT3A,DNMT3A Silent,Silent exm-rs13428812 2 25492467 [A/G] NM_022552,NM_175629 DNMT3A,DNMT3A Silent,Silent exm177625 2 25523096 [T/G] NM_022552,NM_175629,NM_175630 DNMT3A,DNMT3A,DNMT3A EXON Missense_E30A,Missense_E30A,Missense_E30A exm177640 2 25610238 [T/C] NM_001256308,NM_001256304,NM_183360,NM_021907,NM_183361,NM_033147,NM_001256303,NM_033148 DTNB,DTNB,DTNB,DTNB,DTNB,DTNB,DTNB,DTNB EXON Missense_R518K,Missense_R575K,Missense_R582K,Missense_R582K,Silent,Silent,Missense_R575K,Silent exm177656 2 25655829 [G/C] NM_001256308,NM_001256304,NM_183360,NM_021907,NM_183361,NM_033147,NM_001256303,NM_033148 DTNB,DTNB,DTNB,DTNB,DTNB,DTNB,DTNB,DTNB EXON Missense_H404Q,Missense_H461Q,Missense_H461Q,Missense_H461Q,Missense_H431Q,Missense_H461Q,Missense_H461Q,Missense_H431Q exm177663 2 25656860 [T/C] NM_001256308,NM_001256304,NM_183360,NM_021907,NM_183361,NM_033147,NM_001256303,NM_033148 DTNB,DTNB,DTNB,DTNB,DTNB,DTNB,DTNB,DTNB EXON Missense_R364H,Missense_R421H,Missense_R421H,Missense_R421H,Missense_R391H,Missense_R421H,Missense_R421H,Missense_R391H exm177668 2 25674466 [T/C] NM_001256308,NM_001256304,NM_183360,NM_021907,NM_183361,NM_033147,NM_001256303,NM_033148 DTNB,DTNB,DTNB,DTNB,DTNB,DTNB,DTNB,DTNB EXON Missense_R346H,Missense_R403H,Missense_R403H,Missense_R403H,Missense_R373H,Missense_R403H,Missense_R403H,Missense_R373H exm2018157 2 25678274 [T/C] NM_001256308,NM_001256304,NM_183360,NM_021907,NM_183361,NM_033147,NM_001256303,NM_033148 DTNB,DTNB,DTNB,DTNB,DTNB,DTNB,DTNB,DTNB EXON Missense_R333H,Missense_R390H,Missense_R390H,Missense_R390H,Silent,Missense_R390H,Missense_R390H,Silent exm177673 2 25678308 [T/C] NM_001256308,NM_001256304,NM_183360,NM_021907,NM_183361,NM_033147,NM_001256303,NM_033148 DTNB,DTNB,DTNB,DTNB,DTNB,DTNB,DTNB,DTNB EXON Missense_A322T,Missense_A379T,Missense_A379T,Missense_A379T,Silent,Missense_A379T,Missense_A379T,Silent exm177675 2 25678319 [T/C] NM_001256308,NM_001256304,NM_183360,NM_021907,NM_183361,NM_033147,NM_001256303,NM_033148 DTNB,DTNB,DTNB,DTNB,DTNB,DTNB,DTNB,DTNB EXON Missense_H318R,Missense_H375R,Missense_H375R,Missense_H375R,Silent,Missense_H375R,Missense_H375R,Silent exm177677 2 25754343 [T/C] NM_001256308,NM_001256304,NM_183360,NM_021907,NM_183361,NM_033147,NM_001256303,NM_033148 DTNB,DTNB,DTNB,DTNB,DTNB,DTNB,DTNB,DTNB EXON Missense_V277I,Missense_V334I,Missense_V334I,Missense_V334I,Missense_V334I,Missense_V334I,Missense_V334I,Missense_V334I exm177679 2 25754393 [T/C] NM_001256308,NM_001256304,NM_183360,NM_021907,NM_183361,NM_033147,NM_001256303,NM_033148 DTNB,DTNB,DTNB,DTNB,DTNB,DTNB,DTNB,DTNB EXON Missense_H260R,Missense_H317R,Missense_H317R,Missense_H317R,Missense_H317R,Missense_H317R,Missense_H317R,Missense_H317R exm177682 2 25754408 [A/G] NM_001256308,NM_001256304,NM_183360,NM_021907,NM_183361,NM_033147,NM_001256303,NM_033148 DTNB,DTNB,DTNB,DTNB,DTNB,DTNB,DTNB,DTNB EXON Missense_T255M,Missense_T312M,Missense_T312M,Missense_T312M,Missense_T312M,Missense_T312M,Missense_T312M,Missense_T312M exm177695 2 25819108 [A/G] NM_001256308,NM_001256304,NM_183360,NM_021907,NM_183361,NM_033147,NM_001256303,NM_033148 DTNB,DTNB,DTNB,DTNB,DTNB,DTNB,DTNB,DTNB EXON Synonymous_Y93Y,Synonymous_Y150Y,Synonymous_Y150Y,Synonymous_Y150Y,Synonymous_Y150Y,Synonymous_Y150Y,Synonymous_Y150Y,Synonymous_Y150Y exm177698 2 25830182 [T/C] NM_001256308,NM_001256304,NM_183360,NM_021907,NM_183361,NM_033147,NM_001256303,NM_033148 DTNB,DTNB,DTNB,DTNB,DTNB,DTNB,DTNB,DTNB EXON Missense_R67Q,Missense_R124Q,Missense_R124Q,Missense_R124Q,Missense_R124Q,Missense_R124Q,Missense_R124Q,Missense_R124Q exm177703 2 25851107 [T/C] NM_001256308,NM_001256304,NM_183360,NM_021907,NM_183361,NM_033147,NM_001256303,NM_033148 DTNB,DTNB,DTNB,DTNB,DTNB,DTNB,DTNB,DTNB EXON Missense_T42A,Missense_T99A,Missense_T99A,Missense_T99A,Missense_T99A,Missense_T99A,Missense_T99A,Missense_T99A exm177716 2 25861939 [T/C] NM_001256308,NM_001256304,NM_183360,NM_021907,NM_183361,NM_033147,NM_001256303,NM_033148 DTNB,DTNB,DTNB,DTNB,DTNB,DTNB,DTNB,DTNB EXON Silent,Missense_R31Q,Missense_R31Q,Missense_R31Q,Missense_R31Q,Missense_R31Q,Missense_R31Q,Missense_R31Q exm-rs11684202 2 25887558 [A/G] NM_183360,NM_021907,NM_183361,NM_033147,NM_001256303,NM_033148 DTNB,DTNB,DTNB,DTNB,DTNB,DTNB Silent,Silent,Silent,Silent,Silent,Silent exm177729 2 25965095 [T/G] NM_018263 ASXL2 EXON Missense_Q1371K exm177739 2 25965376 [A/G] NM_018263 ASXL2 EXON Missense_V1277A exm177744 2 25965532 [G/C] NM_018263 ASXL2 EXON Missense_C1225S exm177745 2 25965535 [A/T] NM_018263 ASXL2 EXON Missense_D1224V exm177752 2 25965982 [T/C] NM_018263 ASXL2 EXON Missense_R1075Q exm177753 2 25965983 [A/G] NM_018263 ASXL2 EXON Missense_R1075W exm177755 2 25966027 [T/C] NM_018263 ASXL2 EXON Missense_K1060R exm177757 2 25966104 [A/C] NM_018263 ASXL2 EXON Missense_R1034S exm177765 2 25966463 [A/G] NM_018263 ASXL2 EXON Missense_P915S exm177768 2 25966519 [A/G] NM_018263 ASXL2 EXON Missense_L896S exm177777 2 25966814 [T/C] NM_018263 ASXL2 EXON Missense_I798V exm177781 2 25966853 [T/C] NM_018263 ASXL2 EXON Missense_V785I exm177785 2 25967069 [A/C] NM_018263 ASXL2 EXON Missense_G713C exm177788 2 25967156 [T/C] NM_018263 ASXL2 EXON Missense_A684T exm177799 2 25967276 [A/C] NM_018263 ASXL2 EXON Missense_V644F exm177806 2 25972602 [T/C] NM_018263 ASXL2 EXON Missense_G608E exm177808 2 25972653 [T/C] NM_018263 ASXL2 EXON Missense_R591H exm177814 2 25972785 [T/C] NM_018263 ASXL2 EXON Missense_Q547R exm177815 2 25972816 [T/C] NM_018263 ASXL2 EXON Missense_I537V exm177818 2 25972936 [T/C] NM_018263 ASXL2 EXON Missense_A497T exm177822 2 25973037 [G/C] NM_018263 ASXL2 EXON Missense_P463R exm177833 2 25990553 [C/G] NM_018263 ASXL2 EXON Missense_P225R exm177836 2 25991617 [T/G] NM_018263 ASXL2 EXON Missense_K209Q exm177838 2 25991689 [T/C] NM_018263 ASXL2 EXON Missense_S185G exm177840 2 25991713 [T/G] NM_018263 ASXL2 EXON Missense_K177Q exm177845 2 26022277 [T/C] NM_018263 ASXL2 EXON Missense_K127R exm-rs6731972 2 26151206 [T/C] NM_002254 KIF3C EXON Silent exm177858 2 26151896 [G/C] NM_002254 KIF3C EXON Missense_S778C exm177863 2 26152255 [A/G] NM_002254 KIF3C EXON Missense_A736V exm177874 2 26174659 [T/C] NM_002254 KIF3C EXON Missense_V669I exm2018237 2 26178526 [A/G] NM_002254 KIF3C EXON Missense_R552C exm177897 2 26203422 [A/C] NM_002254 KIF3C EXON Missense_K455N exm2018250 2 26203534 [A/G] NM_002254 KIF3C EXON Missense_P418L exm177906 2 26203573 [T/C] NM_002254 KIF3C EXON Missense_R405Q exm177914 2 26203948 [C/G] NM_002254 KIF3C EXON Missense_G280A exm177932 2 26204362 [T/C] NM_002254 KIF3C EXON Missense_R142Q exm2265305 2 26281239 [A/G] NM_016131 RAB10 Silent exm177965 2 26357861 [A/G] NM_016131 RAB10 EXON Missense_V192M exm177966 2 26399214 [A/G] NM_001168241 GAREML EXON Synonymous_G38G exm177968 2 26405871 [C/G] NM_001168241,NM_001191033 GAREML,GAREML EXON Missense_R97G,Missense_R20G exm2018268 2 26410477 [A/C] NM_001168241,NM_001191033 GAREML,GAREML EXON Missense_T659N,Silent exm2255286 2 26410592 [A/C] NM_001168241,NM_001191033 GAREML,GAREML EXON Synonymous_V697V,Synonymous_V487V exm178000 2 26410831 [A/G] NM_001168241,NM_001191033 GAREML,GAREML EXON Missense_R777H,Missense_R567H exm178003 2 26414191 [T/A] NM_000182 HADHA EXON Nonsense_Y740X exm178004 2 26414196 [G/C] NM_000182 HADHA EXON Missense_A739P exm178011 2 26414367 [T/G] NM_000182 HADHA EXON Missense_P711T exm178013 2 26414385 [T/C] NM_000182 HADHA EXON Missense_V705I exm178028 2 26416488 [T/C] NM_000182 HADHA EXON Missense_N615D exm178049 2 26418053 [C/G] NM_000182 HADHA EXON Missense_E510Q exm178056 2 26424019 [A/G] NM_000182 HADHA EXON Missense_A464V exm178060 2 26426955 [T/C] NM_000182 HADHA EXON Missense_R399Q exm178076 2 26437358 [T/C] NM_000182 HADHA EXON Missense_R291Q exm178079 2 26437421 [A/G] NM_000182 HADHA EXON Missense_A270V exm178086 2 26453084 [C/G] NM_000182 HADHA EXON Missense_V218L exm178088 2 26453147 [A/C] NM_000182 HADHA EXON Missense_A197S exm2018299 2 26457222 [T/C] NM_000182 HADHA EXON Missense_M106V exm178104 2 26461867 [T/C] NM_000182 HADHA EXON Missense_T39A exm178108 2 26462000 [A/G] NM_000182 HADHA EXON Missense_R27C exm2018309 2 26462004 [T/C] NM_000182 HADHA EXON Missense_I25M exm178114 2 26467449 [C/G] NM_000182 HADHA EXON Missense_A6P exm-rs6745226 2 26493597 [A/C] NM_000183 HADHB Silent exm178136 2 26496536 [T/C] NM_000183 HADHB EXON Missense_T91I exm178140 2 26500013 [A/C] NM_000183 HADHB EXON Missense_Q143K exm178148 2 26501599 [A/G] NM_000183 HADHB EXON Missense_N187S exm178149 2 26501604 [A/G] NM_000183 HADHB EXON Missense_A189T exm178154 2 26501628 [T/C] NM_000183 HADHB EXON Missense_S197P exm178159 2 26502012 [A/G] NM_000183 HADHB EXON Missense_V214I exm178167 2 26502880 [A/G] NM_000183 HADHB EXON Missense_K277R exm178181 2 26505881 [T/G] NM_000183 HADHB EXON Missense_M341I exm2018335 2 26507071 [T/C] NM_000183 HADHB EXON Missense_S383L exm178197 2 26532442 [T/C] NM_153835,NM_001145169 GPR113,GPR113 EXON Missense_N851S,Missense_N981S exm178198 2 26532443 [T/C] NM_153835,NM_001145169 GPR113,GPR113 EXON Missense_N851D,Missense_N981D exm178205 2 26532958 [A/G] NM_153835,NM_001145169,NM_001145168 GPR113,GPR113,GPR113 EXON Missense_R833C,Missense_R963C,Missense_R1032C exm178206 2 26532973 [T/C] NM_153835,NM_001145169,NM_001145168 GPR113,GPR113,GPR113 EXON Missense_I828V,Missense_I958V,Missense_I1027V exm178208 2 26533074 [A/G] NM_153835,NM_001145169,NM_001145168 GPR113,GPR113,GPR113 EXON Missense_M824T,Missense_M954T,Missense_M1023T exm178214 2 26533627 [A/G] NM_153835,NM_001145169,NM_001145168 GPR113,GPR113,GPR113 EXON Missense_L791P,Missense_L921P,Missense_L990P exm178215 2 26533637 [T/C] NM_153835,NM_001145169,NM_001145168 GPR113,GPR113,GPR113 EXON Missense_G788R,Missense_G918R,Missense_G987R exm178218 2 26533735 [C/G] NM_153835,NM_001145169,NM_001145168 GPR113,GPR113,GPR113 EXON Missense_P755R,Missense_P885R,Missense_P954R exm178219 2 26533808 [T/C] NM_153835,NM_001145169,NM_001145168 GPR113,GPR113,GPR113 EXON Missense_V731M,Missense_V861M,Missense_V930M exm178224 2 26533898 [T/C] NM_153835,NM_001145169,NM_001145168 GPR113,GPR113,GPR113 EXON Missense_V701I,Missense_V831I,Missense_V900I exm178236 2 26534041 [T/C] NM_153835,NM_001145169,NM_001145168 GPR113,GPR113,GPR113 EXON Missense_Y653C,Missense_Y783C,Missense_Y852C exm178239 2 26534073 [T/G] NM_153835,NM_001145169,NM_001145168 GPR113,GPR113,GPR113 EXON Nonsense_C642X,Nonsense_C772X,Nonsense_C841X exm178248 2 26534174 [A/G] NM_153835,NM_001145169,NM_001145168 GPR113,GPR113,GPR113 EXON Missense_R609C,Missense_R739C,Missense_R808C exm178252 2 26534212 [A/C] NM_153835,NM_001145169,NM_001145168 GPR113,GPR113,GPR113 EXON Missense_V596G,Missense_V726G,Missense_V795G exm178258 2 26534250 [T/C] NM_153835,NM_001145169,NM_001145168 GPR113,GPR113,GPR113 EXON Missense_I583M,Missense_I713M,Missense_I782M exm178268 2 26534345 [A/G] NM_153835,NM_001145169,NM_001145168 GPR113,GPR113,GPR113 EXON Missense_H552Y,Missense_H682Y,Missense_H751Y exm178269 2 26534402 [T/C] NM_153835,NM_001145169,NM_001145168 GPR113,GPR113,GPR113 EXON Missense_E533K,Missense_E663K,Missense_E732K exm178272 2 26534512 [T/C] NM_153835,NM_001145169,NM_001145168 GPR113,GPR113,GPR113 EXON Missense_R496Q,Missense_R626Q,Missense_R695Q exm2018364 2 26534617 [T/C] NM_153835,NM_001145169,NM_001145168 GPR113,GPR113,GPR113 EXON Missense_R461Q,Missense_R591Q,Missense_R660Q exm178277 2 26534639 [T/A] NM_153835,NM_001145169,NM_001145168 GPR113,GPR113,GPR113 EXON Missense_S454C,Missense_S584C,Missense_S653C exm178282 2 26534698 [A/G] NM_153835,NM_001145169,NM_001145168 GPR113,GPR113,GPR113 EXON Missense_L434P,Missense_L564P,Missense_L633P exm178291 2 26534801 [A/G] NM_153835,NM_001145169,NM_001145168 GPR113,GPR113,GPR113 EXON Missense_H400Y,Missense_H530Y,Missense_H599Y exm178292 2 26534813 [A/G] NM_153835,NM_001145169,NM_001145168 GPR113,GPR113,GPR113 EXON Missense_C396R,Missense_C526R,Missense_C595R exm178294 2 26534854 [A/G] NM_153835,NM_001145169,NM_001145168 GPR113,GPR113,GPR113 EXON Missense_S382L,Missense_S512L,Missense_S581L exm178295 2 26534872 [T/C] NM_153835,NM_001145169,NM_001145168 GPR113,GPR113,GPR113 EXON Missense_R376Q,Missense_R506Q,Missense_R575Q exm178299 2 26534941 [T/C] NM_153835,NM_001145169,NM_001145168 GPR113,GPR113,GPR113 EXON Missense_N353S,Missense_N483S,Missense_N552S exm178309 2 26536288 [T/C] NM_153835,NM_001145169,NM_001145168 GPR113,GPR113,GPR113 EXON Missense_S278N,Missense_S408N,Missense_S477N exm178318 2 26536414 [T/G] NM_153835,NM_001145169,NM_001145168 GPR113,GPR113,GPR113 EXON Missense_A236D,Missense_A366D,Missense_A435D exm178320 2 26536629 [G/C] NM_153835,NM_001145169,NM_001145168 GPR113,GPR113,GPR113 EXON Missense_Q226H,Missense_Q356H,Missense_Q425H exm178323 2 26536694 [T/C] NM_153835,NM_001145169,NM_001145168 GPR113,GPR113,GPR113 EXON Missense_A205T,Missense_A335T,Missense_A404T exm178326 2 26536699 [A/G] NM_153835,NM_001145169,NM_001145168 GPR113,GPR113,GPR113 EXON Missense_T203M,Missense_T333M,Missense_T402M exm178328 2 26536727 [T/C] NM_153835,NM_001145169,NM_001145168 GPR113,GPR113,GPR113 EXON Missense_V194I,Missense_V324I,Missense_V393I exm178329 2 26536745 [A/G] NM_153835,NM_001145169,NM_001145168 GPR113,GPR113,GPR113 EXON Nonsense_Q188X,Nonsense_Q318X,Nonsense_Q387X exm178337 2 26537311 [A/G] NM_153835,NM_001145169,NM_001145168 GPR113,GPR113,GPR113 EXON Missense_A169V,Missense_A299V,Missense_A368V exm178338 2 26537312 [T/C] NM_153835,NM_001145169,NM_001145168 GPR113,GPR113,GPR113 EXON Missense_A169T,Missense_A299T,Missense_A368T exm178341 2 26537317 [T/C] NM_153835,NM_001145169,NM_001145168 GPR113,GPR113,GPR113 EXON Missense_Y167C,Missense_Y297C,Missense_Y366C exm178342 2 26537324 [C/G] NM_153835,NM_001145169,NM_001145168 GPR113,GPR113,GPR113 EXON Missense_L165V,Missense_L295V,Missense_L364V exm178344 2 26537347 [T/C] NM_153835,NM_001145169,NM_001145168 GPR113,GPR113,GPR113 EXON Missense_S157N,Missense_S287N,Missense_S356N exm178346 2 26537402 [A/G] NM_153835,NM_001145169,NM_001145168 GPR113,GPR113,GPR113 EXON Nonsense_R139X,Nonsense_R269X,Nonsense_R338X exm178369 2 26539204 [A/C] NM_153835,NM_001145169,NM_001145168 GPR113,GPR113,GPR113 EXON Silent,Missense_Q136H,Missense_Q205H exm178372 2 26539806 [A/G] NM_153835,NM_001145169,NM_001145168 GPR113,GPR113,GPR113 EXON Missense_L100P,Missense_L90P,Missense_L159P exm178374 2 26539862 [T/G] NM_153835,NM_001145169,NM_001145168 GPR113,GPR113,GPR113 EXON Missense_E81D,Missense_E71D,Missense_E140D exm178384 2 26541813 [T/A] NM_153835,NM_001145169,NM_001145168 GPR113,GPR113,GPR113 EXON Silent,Silent,Missense_R35S exm178398 2 26587174 [A/G] NM_033505 EPT1 EXON Missense_S21N exm178400 2 26587700 [A/G] NM_033505 EPT1 EXON Missense_V43I exm178412 2 26597965 [T/C] NM_033505 EPT1 EXON Missense_P211S exm178424 2 26609322 [T/C] NM_033505 EPT1 EXON Missense_V338A exm178425 2 26609328 [T/C] NM_033505 EPT1 EXON Missense_S340F exm178440 2 26624955 [A/G] NM_145038 CCDC164 EXON Missense_Q33R exm178443 2 26637228 [T/C] NM_145038 CCDC164 EXON Missense_Y58H exm178444 2 26637247 [A/G] NM_145038 CCDC164 EXON Missense_E64G exm178452 2 26644264 [T/C] NM_145038 CCDC164 EXON Nonsense_Q118X exm178455 2 26647203 [T/G] NM_145038 CCDC164 EXON Missense_W141G exm178483 2 26663266 [T/G] NM_145038 CCDC164 EXON Missense_Q303H exm178487 2 26663349 [T/C] NM_145038 CCDC164 EXON Missense_T331I exm178488 2 26667128 [T/C] NM_145038 CCDC164 EXON Missense_A356V exm178489 2 26667130 [A/G] NM_145038 CCDC164 EXON Missense_K357E exm178490 2 26667154 [A/G] NM_145038 CCDC164 EXON Missense_E365K exm178493 2 26667184 [T/C] NM_145038 CCDC164 EXON Missense_R375C exm178494 2 26667185 [A/G] NM_145038 CCDC164 EXON Missense_R375H exm178496 2 26667592 [T/C] NM_145038 CCDC164 EXON Missense_A391V exm178498 2 26667615 [T/C] NM_145038 CCDC164 EXON Missense_W399R exm178505 2 26667780 [A/G] NM_145038 CCDC164 EXON Missense_A454T exm178506 2 26667811 [A/G] NM_145038 CCDC164 EXON Missense_R464H exm178510 2 26671580 [T/C] NM_145038 CCDC164 EXON Missense_A473V exm178511 2 26671582 [A/G] NM_145038 CCDC164 EXON Missense_A474T exm178517 2 26671654 [G/C] NM_145038 CCDC164 EXON Missense_L498V exm178520 2 26671671 [A/G] NM_145038 CCDC164 EXON Synonymous_S503S exm2018448 2 26672873 [A/C] NM_145038 CCDC164 EXON Missense_I507L exm178522 2 26672935 [T/G] NM_145038 CCDC164 EXON Missense_R527S exm178536 2 26676222 [T/C] NM_145038 CCDC164 EXON Missense_A575V exm178539 2 26676248 [T/A] NM_145038 CCDC164 EXON Missense_S584T exm178542 2 26676273 [T/C] NM_145038 CCDC164 EXON Missense_T592M exm178546 2 26676395 [T/G] NM_145038 CCDC164 EXON Missense_V633F exm178547 2 26676411 [A/C] NM_145038 CCDC164 EXON Missense_K638T exm178552 2 26677552 [T/C] NM_145038 CCDC164 EXON Missense_R653C exm178553 2 26677569 [C/G] NM_145038 CCDC164 EXON Missense_D658E exm178554 2 26677571 [T/C] NM_145038 CCDC164 EXON Missense_S659L exm178557 2 26677616 [T/A] NM_145038 CCDC164 EXON Missense_Q674L exm178563 2 26678010 [C/G] NM_145038 CCDC164 EXON Missense_T692S exm178566 2 26678040 [T/G] NM_145038 CCDC164 EXON Missense_S702I exm178568 2 26678057 [A/C] NM_145038 CCDC164 EXON Missense_N708H exm178572 2 26678082 [A/C] NM_145038 CCDC164 EXON Missense_Q716P exm178575 2 26679362 [A/G] NM_145038 CCDC164 EXON Missense_V734M exm178577 2 26679385 [A/C] NM_145038 CCDC164 EXON Missense_X741C exm178592 2 26682949 [A/C] NM_194248,NM_194323,NM_194322,NM_004802 OTOF,OTOF,OTOF,OTOF EXON Missense_A1980S,Silent,Missense_A1290S,Missense_A1213S exm178615 2 26683874 [T/C] NM_194248,NM_194323,NM_194322,NM_004802 OTOF,OTOF,OTOF,OTOF EXON Missense_R1853Q,Missense_R1086Q,Missense_R1163Q,Missense_R1086Q exm178624 2 26684692 [A/G] NM_194248,NM_194323,NM_194322,NM_004802 OTOF,OTOF,OTOF,OTOF EXON Missense_A1802V,Missense_A1035V,Missense_A1112V,Missense_A1035V exm178638 2 26686364 [A/G] NM_194248,NM_194323,NM_194322,NM_004802 OTOF,OTOF,OTOF,OTOF EXON Missense_R1727W,Missense_R960W,Missense_R1037W,Missense_R960W exm2018496 2 26686837 [C/G] NM_194248,NM_194323,NM_194322,NM_004802 OTOF,OTOF,OTOF,OTOF EXON Missense_E1700Q,Missense_E933Q,Missense_E1010Q,Missense_E933Q exm178646 2 26686852 [T/C] NM_194248,NM_194323,NM_194322,NM_004802 OTOF,OTOF,OTOF,OTOF EXON Missense_D1695N,Missense_D928N,Missense_D1005N,Missense_D928N exm178647 2 26686872 [A/G] NM_194248,NM_194323,NM_194322,NM_004802 OTOF,OTOF,OTOF,OTOF EXON Missense_T1688M,Missense_T921M,Missense_T998M,Missense_T921M exm178648 2 26686896 [T/C] NM_194248,NM_194323,NM_194322,NM_004802 OTOF,OTOF,OTOF,OTOF EXON Missense_R1680H,Missense_R913H,Missense_R990H,Missense_R913H exm178649 2 26686897 [A/G] NM_194248,NM_194323,NM_194322,NM_004802 OTOF,OTOF,OTOF,OTOF EXON Missense_R1680C,Missense_R913C,Missense_R990C,Missense_R913C exm178652 2 26686909 [A/G] NM_194248,NM_194323,NM_194322,NM_004802 OTOF,OTOF,OTOF,OTOF EXON Missense_R1676C,Missense_R909C,Missense_R986C,Missense_R909C exm178658 2 26687738 [A/G] NM_194248,NM_194323,NM_194322,NM_004802 OTOF,OTOF,OTOF,OTOF EXON Synonymous_N1653N,Synonymous_N886N,Synonymous_N963N,Synonymous_N886N exm178662 2 26687761 [A/G] NM_194248,NM_194323,NM_194322,NM_004802 OTOF,OTOF,OTOF,OTOF EXON Missense_P1646S,Missense_P879S,Missense_P956S,Missense_P879S exm2018501 2 26687775 [T/C] NM_194248,NM_194323,NM_194322,NM_004802 OTOF,OTOF,OTOF,OTOF EXON Missense_R1641H,Missense_R874H,Missense_R951H,Missense_R874H exm178675 2 26688591 [T/C] NM_194248,NM_194323,NM_194322,NM_004802 OTOF,OTOF,OTOF,OTOF EXON Missense_R1583H,Missense_R816H,Missense_R893H,Missense_R816H exm178679 2 26688697 [T/C] NM_194248,NM_194323,NM_194322,NM_004802 OTOF,OTOF,OTOF,OTOF EXON Missense_E1548K,Missense_E781K,Missense_E858K,Missense_E781K exm178683 2 26688863 [T/C] NM_194248,NM_194323,NM_194322,NM_004802 OTOF,OTOF,OTOF,OTOF EXON Missense_D1528N,Missense_D761N,Missense_D838N,Missense_D761N exm2018514 2 26689598 [T/C] NM_194248,NM_194323,NM_194322,NM_004802 OTOF,OTOF,OTOF,OTOF EXON Missense_R1495Q,Missense_R728Q,Missense_R805Q,Missense_R728Q exm178697 2 26689628 [A/G] NM_194248,NM_194323,NM_194322,NM_004802 OTOF,OTOF,OTOF,OTOF EXON Missense_P1485L,Missense_P718L,Missense_P795L,Missense_P718L exm178701 2 26689674 [A/G] NM_194248,NM_194323,NM_194322,NM_004802 OTOF,OTOF,OTOF,OTOF EXON Missense_R1470W,Missense_R703W,Missense_R780W,Missense_R703W exm178702 2 26689680 [T/C] NM_194248,NM_194323,NM_194322,NM_004802 OTOF,OTOF,OTOF,OTOF EXON Missense_V1468M,Missense_V701M,Missense_V778M,Missense_V701M exm178717 2 26690244 [T/C] NM_194248,NM_194323,NM_194322,NM_004802 OTOF,OTOF,OTOF,OTOF EXON Missense_D1406N,Missense_D639N,Missense_D716N,Missense_D639N exm178721 2 26690369 [A/C] NM_194248,NM_194323,NM_194322,NM_004802 OTOF,OTOF,OTOF,OTOF EXON Missense_G1364V,Missense_G597V,Missense_G674V,Missense_G597V exm2018537 2 26693460 [T/C] NM_194248,NM_194323,NM_194322,NM_004802 OTOF,OTOF,OTOF,OTOF Silent,Silent,Silent,Silent exm178728 2 26693518 [G/C] NM_194248,NM_194323,NM_194322,NM_004802 OTOF,OTOF,OTOF,OTOF EXON Missense_D1322E,Missense_D555E,Missense_D632E,Missense_D555E exm178732 2 26693567 [T/G] NM_194248,NM_194323,NM_194322,NM_004802 OTOF,OTOF,OTOF,OTOF EXON Missense_K1306T,Missense_K539T,Missense_K616T,Missense_K539T exm178745 2 26695460 [A/G] NM_194248,NM_194323,NM_194322,NM_004802 OTOF,OTOF,OTOF,OTOF EXON Missense_T1264I,Silent,Missense_T574I,Silent exm178746 2 26695500 [A/C] NM_194248,NM_194323,NM_194322,NM_004802 OTOF,OTOF,OTOF,OTOF EXON Missense_C1251G,Silent,Missense_C561G,Silent exm178750 2 26696027 [G/C] NM_194248,NM_194323,NM_194322,NM_004802 OTOF,OTOF,OTOF,OTOF EXON Missense_R1236G,Missense_R489G,Missense_R546G,Missense_R489G exm178755 2 26696125 [T/C] NM_194248,NM_194323,NM_194322,NM_004802 OTOF,OTOF,OTOF,OTOF EXON Missense_N1203S,Missense_N456S,Missense_N513S,Missense_N456S exm178771 2 26696882 [T/C] NM_194248,NM_194323,NM_194322,NM_004802 OTOF,OTOF,OTOF,OTOF EXON Missense_V1129M,Missense_V382M,Missense_V439M,Missense_V382M exm178773 2 26696935 [A/G] NM_194248,NM_194323,NM_194322,NM_004802 OTOF,OTOF,OTOF,OTOF EXON Missense_P1111L,Missense_P364L,Missense_P421L,Missense_P364L exm178774 2 26697422 [G/C] NM_194248,NM_194323,NM_194322,NM_004802 OTOF,OTOF,OTOF,OTOF EXON Missense_A1083P,Missense_A336P,Missense_A393P,Missense_A336P exm178777 2 26697466 [T/C] NM_194248,NM_194323,NM_194322,NM_004802 OTOF,OTOF,OTOF,OTOF EXON Missense_R1068H,Missense_R321H,Missense_R378H,Missense_R321H exm178787 2 26698277 [T/A] NM_194248,NM_194323,NM_194322,NM_004802 OTOF,OTOF,OTOF,OTOF EXON Missense_R1026W,Missense_R279W,Missense_R336W,Missense_R279W exm178789 2 26698313 [T/C] NM_194248,NM_194323,NM_194322,NM_004802 OTOF,OTOF,OTOF,OTOF EXON Missense_D1014N,Missense_D267N,Missense_D324N,Missense_D267N exm178794 2 26698865 [A/G] NM_194248,NM_194323,NM_194322,NM_004802 OTOF,OTOF,OTOF,OTOF EXON Missense_R970C,Missense_R223C,Missense_R280C,Missense_R223C exm178795 2 26698882 [A/G] NM_194248,NM_194323,NM_194322,NM_004802 OTOF,OTOF,OTOF,OTOF EXON Missense_A964V,Missense_A217V,Missense_A274V,Missense_A217V exm178799 2 26699014 [T/C] NM_194248,NM_194323,NM_194322,NM_004802 OTOF,OTOF,OTOF,OTOF EXON Missense_V950I,Missense_V203I,Missense_V260I,Missense_V203I exm178824 2 26700056 [T/C] NM_194248,NM_194323,NM_194322,NM_004802 OTOF,OTOF,OTOF,OTOF EXON Missense_R836H,Missense_R89H,Missense_R146H,Missense_R89H exm178826 2 26700065 [A/T] NM_194248,NM_194323,NM_194322,NM_004802 OTOF,OTOF,OTOF,OTOF EXON Missense_Q833L,Missense_Q86L,Missense_Q143L,Missense_Q86L exm178827 2 26700078 [A/G] NM_194248,NM_194323,NM_194322,NM_004802 OTOF,OTOF,OTOF,OTOF EXON Nonsense_Q829X,Nonsense_Q82X,Nonsense_Q139X,Nonsense_Q82X exm178830 2 26700099 [A/G] NM_194248,NM_194323,NM_194322,NM_004802 OTOF,OTOF,OTOF,OTOF EXON Missense_R822W,Missense_R75W,Missense_R132W,Missense_R75W exm178835 2 26700288 [A/T] NM_194248,NM_194323,NM_194322,NM_004802 OTOF,OTOF,OTOF,OTOF EXON Missense_E801V,Missense_E54V,Missense_E111V,Missense_E54V exm178837 2 26700309 [T/C] NM_194248,NM_194323,NM_194322,NM_004802 OTOF,OTOF,OTOF,OTOF EXON Missense_R794H,Missense_R47H,Missense_R104H,Missense_R47H exm178840 2 26700315 [T/C] NM_194248,NM_194323,NM_194322,NM_004802 OTOF,OTOF,OTOF,OTOF EXON Missense_R792Q,Missense_R45Q,Missense_R102Q,Missense_R45Q exm178841 2 26700316 [A/G] NM_194248,NM_194323,NM_194322,NM_004802 OTOF,OTOF,OTOF,OTOF EXON Missense_R792W,Missense_R45W,Missense_R102W,Missense_R45W exm178845 2 26700373 [A/G] NM_194248,NM_194323,NM_194322,NM_004802 OTOF,OTOF,OTOF,OTOF EXON Missense_R773C,Missense_R26C,Missense_R83C,Missense_R26C exm178852 2 26700550 [T/C] NM_194248,NM_194323,NM_194322,NM_004802 OTOF,OTOF,OTOF,OTOF EXON Missense_R761Q,Missense_R14Q,Missense_R71Q,Missense_R14Q exm178860 2 26700697 [A/G] NM_194248,NM_194323,NM_194322,NM_004802 OTOF,OTOF,OTOF,OTOF EXON Silent,Silent,Missense_L22P,Silent exm178861 2 26700700 [A/G] NM_194248,NM_194323,NM_194322,NM_004802 OTOF,OTOF,OTOF,OTOF EXON Silent,Silent,Missense_P21L,Silent exm2018576 2 26700757 [T/A] NM_194248,NM_194323,NM_194322,NM_004802 OTOF,OTOF,OTOF,OTOF EXON Silent,Silent,Missense_M2K,Silent exm2237516 2 26702166 [T/C] NM_194248 OTOF EXON Missense_N727S exm178871 2 26702223 [T/C] NM_194248 OTOF EXON Missense_R708Q exm178872 2 26702224 [A/G] NM_194248 OTOF EXON Nonsense_R708X exm178881 2 26702473 [T/C] NM_194248 OTOF EXON Missense_R654Q exm178885 2 26703073 [A/G] NM_194248 OTOF EXON Missense_I637T exm178890 2 26703725 [C/G] NM_194248 OTOF EXON Missense_V578L exm178892 2 26703734 [T/C] NM_194248 OTOF EXON Missense_V575M exm178894 2 26703817 [A/G] NM_194248 OTOF EXON Missense_T547M exm178895 2 26703827 [A/G] NM_194248 OTOF EXON Missense_R544C exm178899 2 26705283 [T/C] NM_194248 OTOF EXON Missense_G524R exm178901 2 26705300 [A/C] NM_194248 OTOF EXON Missense_R518L exm178922 2 26707412 [T/C] NM_194248 OTOF EXON Missense_V379M exm178931 2 26712094 [T/C] NM_194248 OTOF EXON Missense_V344M exm178936 2 26712546 [T/C] NM_194248 OTOF EXON Synonymous_S320S exm178963 2 26725256 [G/C] NM_194248 OTOF EXON Missense_L208V exm178966 2 26726645 [A/C] NM_194248 OTOF EXON Missense_R193I exm178968 2 26726714 [T/C] NM_194248 OTOF Silent exm178972 2 26739289 [T/C] NM_194248 OTOF EXON Missense_R169Q exm178973 2 26739290 [A/G] NM_194248 OTOF EXON Missense_R169W exm2273772 2 26739301 [A/T] NM_194248 OTOF EXON Missense_E165V exm178982 2 26739428 [T/C] NM_194248 OTOF EXON Missense_G123S exm178991 2 26741960 [T/C] NM_194248 OTOF EXON Missense_R82H exm2237519 2 26750758 [T/C] NM_194248 OTOF EXON Missense_D57N exm178996 2 26750769 [A/G] NM_194248 OTOF EXON Missense_A53V exm2018641 2 26750770 [T/C] NM_194248 OTOF EXON Missense_A53T exm178997 2 26750773 [T/C] NM_194248 OTOF EXON Missense_V52M exm178998 2 26750775 [A/G] NM_194248 OTOF EXON Missense_P51L exm178999 2 26750778 [T/C] NM_194248 OTOF EXON Nonsense_W50X exm179000 2 26750782 [A/G] NM_194248 OTOF EXON Missense_R49W exm2261248 2 26755397 [A/G] NM_194248 OTOF Silent exm179006 2 26760625 [A/G] NM_194248 OTOF EXON Missense_R33W exm179029 2 26798771 [T/G] NM_001105519 C2orf70 EXON Missense_Y26D exm179030 2 26798787 [T/C] NM_001105519 C2orf70 EXON Missense_P31L exm179036 2 26798893 [A/T] NM_001105519 C2orf70 EXON Missense_Q66H exm179037 2 26798897 [A/G] NM_001105519 C2orf70 EXON Missense_G68S exm179040 2 26798961 [A/G] NM_001105519 C2orf70 EXON Missense_R89Q exm179041 2 26798967 [A/G] NM_001105519 C2orf70 EXON Missense_R91H exm179042 2 26799030 [T/C] NM_001105519 C2orf70 EXON Missense_T112M exm2237521 2 26800439 [T/C] NM_001105519 C2orf70 EXON Missense_V135A exm179064 2 26802211 [A/G] NM_001105519 C2orf70 EXON Missense_E171K exm179067 2 26802230 [T/A] NM_001105519 C2orf70 EXON Missense_Q177L exm179069 2 26802266 [A/T] NM_001105519 C2orf70 EXON Missense_E189V exm179082 2 26804247 [T/C] NM_001029881 CIB4 EXON Missense_H181R exm179099 2 26806664 [A/G] NM_001029881 CIB4 EXON Missense_T144M exm2018670 2 26806686 [T/C] NM_001029881 CIB4 EXON Missense_E137K exm179101 2 26806712 [A/C] NM_001029881 CIB4 EXON Missense_R128L exm2018673 2 26818042 [A/G] NM_001029881 CIB4 Silent exm179110 2 26818069 [A/C] NM_001029881 CIB4 EXON Missense_K101N exm179116 2 26818167 [A/G] NM_001029881 CIB4 EXON Missense_R69C exm179126 2 26852310 [T/C] NM_001029881 CIB4 EXON Missense_M52V exm179147 2 26950674 [A/C] NM_002246 KCNK3 EXON Missense_H141Q exm179163 2 26951204 [A/G] NM_002246 KCNK3 EXON Missense_R318H exm179183 2 26998422 [A/G] NM_017877 SLC35F6 EXON Missense_R138Q exm179188 2 26999272 [A/G] NM_017877 SLC35F6 EXON Missense_V190I exm179204 2 27001053 [A/G] NM_017877 SLC35F6 EXON Missense_V264M exm179212 2 27001306 [A/G] NM_017877 SLC35F6 EXON Missense_R348Q exm179217 2 27015001 [A/G] NM_001809,NM_001042426 CENPA,CENPA EXON Missense_A35T,Missense_A35T exm179219 2 27015053 [A/G] NM_001809,NM_001042426 CENPA,CENPA EXON Missense_R52Q,Missense_R52Q exm179227 2 27015667 [A/G] NM_001809,NM_001042426 CENPA,CENPA EXON Missense_N85S,Silent exm179256 2 27150268 [A/G] NM_020134,NM_001253723,NM_001253724 DPYSL5,DPYSL5,DPYSL5 EXON Missense_V190I,Missense_V190I,Missense_V190I exm179260 2 27151181 [A/G] NM_020134,NM_001253723,NM_001253724 DPYSL5,DPYSL5,DPYSL5 EXON Missense_R220H,Missense_R220H,Missense_R220H exm179271 2 27157542 [T/C] NM_020134,NM_001253723,NM_001253724 DPYSL5,DPYSL5,DPYSL5 EXON Missense_T296M,Missense_T296M,Missense_T296M exm179285 2 27164867 [A/G] NM_020134,NM_001253723,NM_001253724 DPYSL5,DPYSL5,DPYSL5 EXON Missense_N380S,Missense_N380S,Missense_N380S exm179299 2 27167617 [A/G] NM_020134,NM_001253723,NM_001253724 DPYSL5,DPYSL5,DPYSL5 EXON Missense_A512T,Missense_A512T,Missense_A512T exm179321 2 27247156 [A/G] NM_012326 MAPRE3 EXON Missense_G154S exm179348 2 27258096 [C/G] NM_017727,NM_001083590 TMEM214,TMEM214 EXON Missense_L149V,Missense_L149V exm179364 2 27259421 [A/G] NM_017727,NM_001083590 TMEM214,TMEM214 EXON Missense_G263S,Missense_G218S exm179384 2 27260469 [A/G] NM_017727,NM_001083590 TMEM214,TMEM214 EXON Missense_V351M,Missense_V306M exm2237523 2 27261042 [T/C] NM_017727,NM_001083590 TMEM214,TMEM214 EXON Missense_T394M,Missense_T349M exm179397 2 27261096 [T/C] NM_017727,NM_001083590 TMEM214,TMEM214 EXON Missense_S412L,Missense_S367L exm179399 2 27261375 [C/G] NM_017727,NM_001083590 TMEM214,TMEM214 EXON Missense_S423T,Missense_S378T exm179400 2 27261377 [T/G] NM_017727,NM_001083590 TMEM214,TMEM214 EXON Missense_S424A,Missense_S379A exm179401 2 27261383 [G/C] NM_017727,NM_001083590 TMEM214,TMEM214 EXON Missense_E426Q,Missense_E381Q exm179410 2 27262012 [A/G] NM_017727,NM_001083590 TMEM214,TMEM214 EXON Missense_R502Q,Missense_R457Q exm179415 2 27262648 [T/C] NM_017727,NM_001083590 TMEM214,TMEM214 EXON Missense_L522S,Missense_L477S exm179418 2 27262701 [T/C] NM_017727,NM_001083590 TMEM214,TMEM214 EXON Missense_Y540H,Missense_Y495H exm179423 2 27262944 [A/G] NM_017727,NM_001083590 TMEM214,TMEM214 EXON Missense_V557M,Missense_V512M exm179437 2 27263312 [T/C] NM_017727,NM_001083590 TMEM214,TMEM214 EXON Missense_L631F,Missense_L586F exm179453 2 27275904 [A/C] NM_021831,NM_001035507 AGBL5,AGBL5 EXON Missense_E26D,Missense_E26D exm179454 2 27275914 [A/G] NM_021831,NM_001035507 AGBL5,AGBL5 EXON Missense_S30G,Missense_S30G exm179474 2 27276815 [T/C] NM_021831,NM_001035507 AGBL5,AGBL5 EXON Missense_R147C,Missense_R147C exm179477 2 27276903 [T/C] NM_021831,NM_001035507 AGBL5,AGBL5 EXON Missense_P176L,Missense_P176L exm179480 2 27277499 [T/C] NM_021831,NM_001035507 AGBL5,AGBL5 EXON Missense_P185S,Missense_P185S exm179482 2 27277550 [A/G] NM_021831,NM_001035507 AGBL5,AGBL5 EXON Missense_G202R,Missense_G202R exm179483 2 27277554 [T/G] NM_021831,NM_001035507 AGBL5,AGBL5 EXON Missense_L203R,Missense_L203R exm179487 2 27277659 [A/G] NM_021831,NM_001035507 AGBL5,AGBL5 EXON Missense_R238H,Missense_R238H exm179497 2 27278561 [A/G] NM_021831,NM_001035507 AGBL5,AGBL5 EXON Missense_R307H,Missense_R307H exm179512 2 27279591 [A/G] NM_021831,NM_001035507 AGBL5,AGBL5 EXON Missense_R489H,Missense_R489H exm179519 2 27280202 [T/C] NM_021831,NM_001035507 AGBL5,AGBL5 EXON Missense_R523C,Missense_R523C exm179532 2 27281388 [T/C] NM_021831,NM_001035507 AGBL5,AGBL5 EXON Missense_R598C,Missense_R598C exm179533 2 27281389 [A/G] NM_021831,NM_001035507 AGBL5,AGBL5 EXON Missense_R598H,Missense_R598H exm179539 2 27282058 [T/C] NM_021831,NM_001035507 AGBL5,AGBL5 EXON Synonymous_N625N,Synonymous_N625N exm179543 2 27282126 [T/C] NM_021831,NM_001035507 AGBL5,AGBL5 EXON Missense_A648V,Missense_A648V exm179544 2 27282128 [A/G] NM_021831,NM_001035507 AGBL5,AGBL5 EXON Missense_G649S,Missense_G649S exm179545 2 27282129 [A/G] NM_021831,NM_001035507 AGBL5,AGBL5 EXON Missense_G649D,Missense_G649D exm179550 2 27282266 [A/G] NM_021831,NM_001035507 AGBL5,AGBL5 EXON Missense_V695I,Missense_V695I exm179566 2 27292445 [T/G] NM_021831 AGBL5 EXON Missense_R787M exm179567 2 27292460 [A/G] NM_021831 AGBL5 EXON Missense_R792Q exm179572 2 27292523 [A/G] NM_021831 AGBL5 EXON Missense_R813Q exm179574 2 27292534 [A/G] NM_021831 AGBL5 EXON Missense_S817G exm179579 2 27292989 [A/G] NM_021831 AGBL5 EXON Missense_R840H exm179607 2 27302085 [A/G] NM_007046 EMILIN1 EXON Missense_R51Q exm179611 2 27303062 [G/C] NM_007046 EMILIN1 EXON Missense_L72V exm179614 2 27303608 [A/G] NM_007046 EMILIN1 EXON Missense_R100H exm2273773 2 27303712 [C/G] NM_007046 EMILIN1 EXON Missense_P135A exm179635 2 27305241 [A/G] NM_007046 EMILIN1 EXON Missense_S268G exm179641 2 27305377 [A/G] NM_007046 EMILIN1 EXON Missense_R313H exm2018870 2 27305584 [A/G] NM_007046 EMILIN1 EXON Missense_R382Q exm179650 2 27305610 [T/G] NM_007046 EMILIN1 EXON Missense_A391S exm179651 2 27305611 [A/C] NM_007046 EMILIN1 EXON Missense_A391E exm179660 2 27305824 [G/C] NM_007046 EMILIN1 EXON Missense_G462A exm179661 2 27305980 [T/G] NM_007046 EMILIN1 EXON Missense_V514G exm179671 2 27306061 [A/G] NM_007046 EMILIN1 EXON Missense_R541Q exm179677 2 27306207 [A/G] NM_007046 EMILIN1 EXON Missense_E590K exm179678 2 27306220 [A/G] NM_007046 EMILIN1 EXON Missense_R594H exm179683 2 27306402 [A/G] NM_007046 EMILIN1 EXON Missense_S655G exm2255290 2 27306590 [C/G] NM_007046 EMILIN1 EXON Synonymous_A717A exm2018877 2 27306590 [C/G] NM_007046 EMILIN1 EXON Synonymous_A717A exm179692 2 27306625 [A/G] NM_007046 EMILIN1 EXON Missense_R729H exm179693 2 27306633 [A/G] NM_007046 EMILIN1 EXON Missense_G732S exm179700 2 27306702 [A/G] NM_007046 EMILIN1 EXON Missense_V755M exm2018880 2 27306780 [A/G] NM_007046 EMILIN1 EXON Missense_G781R exm179718 2 27308030 [C/G] NM_007046 EMILIN1 EXON Missense_V860L exm179719 2 27308159 [A/G] NM_007046 EMILIN1 EXON Missense_E903K exm179723 2 27308609 [T/A] NM_007046 EMILIN1 EXON Missense_H926L exm179724 2 27308687 [A/G] NM_007046 EMILIN1 EXON Missense_G952D exm179734 2 27315223 [A/G] NM_000221,NM_006488 KHK,KHK EXON Missense_R39H,Missense_R39H exm179737 2 27315252 [A/G] NM_000221,NM_006488 KHK,KHK EXON Missense_V49I,Missense_V49I exm179738 2 27315264 [T/C] NM_000221,NM_006488 KHK,KHK EXON Missense_L53F,Missense_L53F exm179739 2 27315296 [A/G] NM_000221,NM_006488 KHK,KHK EXON Missense_M63I,Missense_M63I exm179742 2 27317364 [T/C] NM_000221,NM_006488 KHK,KHK EXON Missense_R77C,Silent exm179744 2 27317376 [A/G] NM_000221,NM_006488 KHK,KHK EXON Missense_V81M,Silent exm179747 2 27317428 [T/C] NM_000221,NM_006488 KHK,KHK EXON Missense_T98M,Silent exm179749 2 27317457 [T/C] NM_000221,NM_006488 KHK,KHK EXON Missense_R108C,Silent exm179753 2 27317687 [A/T] NM_000221,NM_006488 KHK,KHK EXON Silent,Missense_R77W exm179754 2 27317690 [T/C] NM_000221,NM_006488 KHK,KHK EXON Silent,Missense_R78W exm2018902 2 27317693 [T/C] NM_000221,NM_006488 KHK,KHK EXON Silent,Missense_R79W exm179755 2 27317694 [A/G] NM_000221,NM_006488 KHK,KHK EXON Silent,Missense_R79Q exm179778 2 27320423 [A/C] NM_000221,NM_006488 KHK,KHK EXON Missense_N157T,Missense_N157T exm179782 2 27320479 [T/C] NM_000221,NM_006488 KHK,KHK EXON Nonsense_R176X,Nonsense_R176X exm179783 2 27320480 [A/G] NM_000221,NM_006488 KHK,KHK EXON Missense_R176Q,Missense_R176Q exm179787 2 27320515 [A/G] NM_000221,NM_006488 KHK,KHK EXON Missense_V188M,Missense_V188M exm179789 2 27322140 [A/G] NM_000221,NM_006488 KHK,KHK EXON Missense_R214H,Missense_R214H exm179801 2 27322424 [A/G] NM_000221,NM_006488,NM_001166240,NM_001166241 KHK,KHK,CGREF1,CGREF1 EXON Missense_V264I,Missense_V264I,Silent,Silent exm179806 2 27322538 [A/G] NM_000221,NM_006488,NM_001166240,NM_001166241 KHK,KHK,CGREF1,CGREF1 EXON Missense_S273G,Missense_S273G,Silent,Silent exm179807 2 27322541 [A/G] NM_000221,NM_006488,NM_001166240,NM_001166241 KHK,KHK,CGREF1,CGREF1 EXON Missense_V274M,Missense_V274M,Silent,Silent exm179820 2 27323385 [T/C] NM_000221,NM_006488,NM_001166240,NM_001166241 KHK,KHK,CGREF1,CGREF1 EXON Silent,Silent,Silent,Missense_G61S exm2237528 2 27323394 [T/C] NM_000221,NM_006488,NM_001166240,NM_001166241 KHK,KHK,CGREF1,CGREF1 EXON Silent,Silent,Silent,Missense_I58V exm179827 2 27324222 [T/G] NM_001166240,NM_001166241,NM_001166239,NM_006569 CGREF1,CGREF1,CGREF1,CGREF1 EXON Silent,Silent,Missense_P293T,Missense_P293T exm179842 2 27324663 [T/C] NM_001166240,NM_001166241,NM_001166239,NM_006569 CGREF1,CGREF1,CGREF1,CGREF1 EXON Silent,Missense_A50T,Missense_A146T,Missense_A146T exm179843 2 27324669 [T/C] NM_001166240,NM_001166241,NM_001166239,NM_006569 CGREF1,CGREF1,CGREF1,CGREF1 EXON Silent,Missense_G48R,Missense_G144R,Missense_G144R exm179857 2 27325227 [C/G] NM_001166240,NM_001166241,NM_001166239,NM_006569 CGREF1,CGREF1,CGREF1,CGREF1 Silent,Silent,Silent,Silent exm179870 2 27327221 [A/G] NM_001166240,NM_001166241,NM_001166239,NM_006569 CGREF1,CGREF1,CGREF1,CGREF1 EXON Missense_T5M,Silent,Missense_T5M,Missense_T5M exm2018935 2 27346844 [A/G] NM_032604 ABHD1 EXON Missense_N10D exm179883 2 27346928 [A/C] NM_032604 ABHD1 EXON Missense_Q38K exm179887 2 27351355 [A/C] NM_032604 ABHD1 EXON Missense_P54Q exm179888 2 27351367 [T/C] NM_032604 ABHD1 EXON Missense_I58T exm179900 2 27351941 [A/G] NM_032604 ABHD1 EXON Missense_S135N exm179901 2 27351948 [T/G] NM_032604 ABHD1 EXON Missense_D137E exm179909 2 27352415 [T/G] NM_032604 ABHD1 EXON Missense_D180Y exm179910 2 27352423 [C/G] NM_032604 ABHD1 EXON Missense_E182D exm179924 2 27352794 [T/C] NM_032604 ABHD1 EXON Nonsense_R264X exm179925 2 27352795 [A/G] NM_032604 ABHD1 EXON Missense_R264Q exm179934 2 27353120 [T/C] NM_032604 ABHD1 EXON Missense_A281V exm179943 2 27353266 [T/C] NM_032604 ABHD1 EXON Missense_P330S exm179945 2 27353431 [A/C] NM_032604 ABHD1 EXON Missense_P346H exm179946 2 27353436 [A/G] NM_032604 ABHD1 EXON Missense_V348I exm179952 2 27353507 [G/C] NM_032604 ABHD1 EXON Missense_W371C exm179953 2 27353509 [A/G] NM_032604 ABHD1 EXON Missense_Y372C exm179954 2 27353513 [A/G] NM_032604 ABHD1 EXON Missense_M373I exm179956 2 27353577 [A/G] NM_032604 ABHD1 EXON Missense_R395G exm179970 2 27354540 [A/G] NM_013388 PREB EXON Missense_R387W exm179981 2 27354687 [T/C] NM_013388 PREB EXON Missense_V338M exm2273774 2 27355143 [A/C] NM_013388 PREB EXON Missense_R294L exm2018977 2 27355189 [A/G] NM_013388 PREB EXON Missense_P279S exm179990 2 27355201 [A/G] NM_013388 PREB EXON Missense_R275C exm179996 2 27355472 [T/G] NM_013388 PREB EXON Synonymous_R251R exm179997 2 27355487 [A/G] NM_013388 PREB EXON Missense_R246C exm2237530 2 27355526 [A/G] NM_013388 PREB EXON Missense_W233R exm180001 2 27355580 [A/G] NM_013388 PREB EXON Missense_R215W exm180014 2 27356164 [A/G] NM_013388 PREB EXON Missense_P123S exm180019 2 27356412 [T/C] NM_013388 PREB EXON Missense_A105T exm180025 2 27356554 [G/C] NM_013388 PREB EXON Missense_L57F exm180032 2 27357279 [A/C] NM_013388 PREB EXON Missense_R4L exm180041 2 27360162 [A/G] NM_178553 C2orf53 EXON Missense_R346W exm180053 2 27360422 [T/C] NM_178553 C2orf53 EXON Missense_R259H exm180054 2 27360429 [A/G] NM_178553 C2orf53 EXON Missense_R257W exm180058 2 27360530 [T/C] NM_178553 C2orf53 EXON Missense_R223H exm180060 2 27360534 [A/G] NM_178553 C2orf53 EXON Missense_R222C exm180063 2 27360578 [T/C] NM_178553 C2orf53 EXON Missense_D207G exm180077 2 27360773 [A/G] NM_178553 C2orf53 EXON Missense_P142L exm180084 2 27360863 [G/C] NM_178553 C2orf53 EXON Missense_S112C exm180086 2 27360927 [A/G] NM_178553 C2orf53 EXON Missense_L91F exm180091 2 27360998 [A/G] NM_178553 C2orf53 EXON Missense_P67L exm180093 2 27361028 [T/C] NM_178553 C2orf53 EXON Missense_R57H exm180096 2 27361049 [C/G] NM_178553 C2orf53 EXON Missense_P50R exm180098 2 27361080 [A/G] NM_178553 C2orf53 EXON Missense_P40S exm180110 2 27372075 [A/G] NM_175769 TCF23 EXON Missense_R25Q exm180114 2 27372129 [A/G] NM_175769 TCF23 EXON Missense_D43G exm180128 2 27373084 [A/G] NM_175769 TCF23 EXON Missense_V106M exm180133 2 27373166 [A/G] NM_175769 TCF23 EXON Missense_G133D exm180135 2 27373205 [A/G] NM_175769 TCF23 EXON Missense_R146H exm2019018 2 27375617 [A/C] NM_175769 TCF23 EXON Missense_T176N exm2265127 2 27384579 [A/G] exm180149 2 27423371 [A/G] NM_021095,NR_028323 SLC5A6,SLC5A6 EXON Missense_M614T,Silent exm180154 2 27423913 [A/G] NM_021095,NR_028323 SLC5A6,SLC5A6 EXON Missense_L573F,Silent exm180158 2 27423972 [T/C] NM_021095,NR_028323 SLC5A6,SLC5A6 EXON Missense_R553Q,Silent exm180161 2 27424227 [C/G] NM_021095,NR_028323 SLC5A6,SLC5A6 EXON Missense_L547V,Silent exm180162 2 27424304 [T/C] NM_021095,NR_028323 SLC5A6,SLC5A6 EXON Missense_R521Q,Silent exm180168 2 27424603 [T/C] NM_021095,NR_028323 SLC5A6,SLC5A6 EXON Missense_S492N,Silent exm180169 2 27424636 [A/G] NM_021095,NR_028323 SLC5A6,SLC5A6 EXON Missense_S481F,Silent exm2255292 2 27424653 [A/G] NM_021095,NR_028323 SLC5A6,SLC5A6 EXON Synonymous_I475I,Silent exm180177 2 27424936 [T/C] NM_021095,NR_028323 SLC5A6,SLC5A6 EXON Missense_I428V,Silent exm2237532 2 27426112 [G/C] NM_021095,NR_028323 SLC5A6,SLC5A6 EXON Missense_S399C,Silent exm180184 2 27426127 [T/C] NM_021095,NR_028323 SLC5A6,SLC5A6 EXON Missense_R394Q,Silent exm180192 2 27427360 [T/C] NM_021095,NR_028323 SLC5A6,SLC5A6 EXON Missense_S325N,Silent exm2019039 2 27427384 [A/G] NM_021095,NR_028323 SLC5A6,SLC5A6 EXON Missense_A317V,Silent exm180194 2 27427402 [A/G] NM_021095,NR_028323 SLC5A6,SLC5A6 EXON Missense_I311T,Silent exm180212 2 27428908 [T/C] NM_021095,NR_028323 SLC5A6,SLC5A6 EXON Missense_V189I,Silent exm180220 2 27430161 [T/C] NM_021095,NR_028323 SLC5A6,SLC5A6 EXON Missense_V120I,Silent exm2255294 2 27430471 [C/G] NM_021095,NR_028323 SLC5A6,SLC5A6 EXON Synonymous_G16G,Silent exm180239 2 27430475 [A/G] NM_021095,NR_028323 SLC5A6,SLC5A6 EXON Missense_S15L,Silent exm180244 2 27435096 [A/G] NM_021095,NR_028323,NM_080592 SLC5A6,SLC5A6,ATRAID EXON Silent,Silent,Missense_E9K exm180253 2 27435250 [A/G] NM_080592,NM_016085,NM_001170795 ATRAID,ATRAID,ATRAID EXON Missense_D60G,Silent,Missense_D5G exm180255 2 27435268 [T/C] NM_080592,NM_016085,NM_001170795 ATRAID,ATRAID,ATRAID EXON Missense_T66I,Silent,Missense_T11I exm2019066 2 27436084 [A/G] NM_080592,NM_016085,NM_001170795 ATRAID,ATRAID,ATRAID EXON Missense_K102E,Silent,Missense_K47E exm180260 2 27436088 [T/C] NM_080592,NM_016085,NM_001170795 ATRAID,ATRAID,ATRAID EXON Missense_V103A,Silent,Missense_V48A exm180263 2 27438196 [T/C] NM_080592,NM_016085,NM_001170795 ATRAID,ATRAID,ATRAID EXON Missense_L132F,Missense_L19F,Missense_L77F exm180269 2 27438370 [A/G] NM_080592,NM_016085,NM_001170795 ATRAID,ATRAID,ATRAID EXON Missense_D163N,Missense_D50N,Missense_D108N exm180270 2 27438388 [T/C] NM_080592,NM_016085,NM_001170795 ATRAID,ATRAID,ATRAID EXON Missense_R169C,Missense_R56C,Missense_R114C exm2019083 2 27444110 [A/G] NM_004341 CAD EXON Missense_V83I exm180316 2 27445170 [A/G] NM_004341 CAD EXON Missense_N154S exm2237537 2 27445782 [A/G] NM_004341 CAD EXON Missense_Y229C exm180335 2 27445881 [T/C] NM_004341 CAD EXON Missense_I262T exm180356 2 27447243 [A/C] NM_004341 CAD EXON Missense_P380H exm2019104 2 27447977 [T/C] NM_004341 CAD EXON Missense_R496W exm180405 2 27449140 [A/G] NM_004341 CAD EXON Missense_V662I exm180423 2 27454944 [A/G] NM_004341 CAD EXON Missense_D833N exm2019117 2 27454972 [A/G] NM_004341 CAD EXON Missense_R842H exm2237538 2 27455023 [T/C] NM_004341 CAD EXON Missense_P859L exm180467 2 27457017 [T/C] NM_004341 CAD EXON Missense_R1181W exm2255295 2 27459256 [A/T] NM_004341 CAD EXON Synonymous_I1393I exm180498 2 27460348 [A/G] NM_004341 CAD EXON Missense_V1500M exm180506 2 27460691 [G/C] NM_004341 CAD EXON Missense_L1557V exm180519 2 27460981 [A/G] NM_004341 CAD EXON Missense_V1596M exm180528 2 27461368 [T/C] NM_004341 CAD EXON Missense_F1644L exm180530 2 27461392 [T/C] NM_004341 CAD EXON Missense_R1652C exm180548 2 27462018 [A/G] NM_004341 CAD EXON Missense_S1724N exm180560 2 27462337 [A/C] NM_004341 CAD EXON Missense_Q1798K exm180564 2 27462599 [A/G] NM_004341 CAD EXON Missense_R1810Q exm180574 2 27463149 [A/G] NM_004341 CAD EXON Missense_R1838H exm180591 2 27464896 [A/G] NM_004341 CAD EXON Missense_V2001I exm180602 2 27465294 [T/C] NM_004341 CAD EXON Missense_T2074M exm180609 2 27465608 [C/G] NM_004341 CAD EXON Missense_V2115L exm2275271 2 27466285 [A/G] NM_004341 CAD EXON Missense_V2193M exm2019197 2 27478199 [T/G] NM_003459 SLC30A3 EXON Missense_Q383P exm180637 2 27478277 [T/C] NM_003459 SLC30A3 EXON Missense_Y357C exm180639 2 27478305 [T/C] NM_003459 SLC30A3 EXON Missense_V348I exm180652 2 27479365 [T/C] NM_003459 SLC30A3 EXON Missense_E303K exm180675 2 27481622 [A/G] NM_003459 SLC30A3 EXON Synonymous_V92V exm180679 2 27481680 [T/C] NM_003459 SLC30A3 EXON Missense_R73Q exm2019227 2 27481773 [A/G] NM_003459 SLC30A3 EXON Missense_P42L exm180690 2 27485720 [A/G] NM_003459 SLC30A3 EXON Missense_R19W exm180697 2 27499607 [T/G] NM_173650 DNAJC5G EXON Missense_V4G exm180700 2 27499675 [A/G] NM_173650 DNAJC5G EXON Missense_G27S exm180709 2 27500695 [A/G] NM_173650 DNAJC5G EXON Missense_D63N exm2019241 2 27501096 [T/C] NM_173650 DNAJC5G EXON Missense_F139S exm2019242 2 27501149 [A/G] NM_173650 DNAJC5G EXON Missense_D157N exm180727 2 27503057 [A/G] NM_173650 DNAJC5G EXON Missense_E182K exm180737 2 27505758 [T/C] NM_032546,NM_187841 TRIM54,TRIM54 EXON Synonymous_D53D,Synonymous_D53D exm180750 2 27521582 [A/G] NM_032546,NM_187841 TRIM54,TRIM54 EXON Missense_D106N,Missense_D106N exm180755 2 27522155 [T/G] NM_032546,NM_187841 TRIM54,TRIM54 EXON Missense_E128D,Missense_E128D exm180757 2 27522165 [T/G] NM_032546,NM_187841 TRIM54,TRIM54 EXON Nonsense_E132X,Nonsense_E132X exm180771 2 27527897 [T/G] NM_032546,NM_187841 TRIM54,TRIM54 EXON Missense_M237R,Missense_M195R exm180773 2 27528504 [A/G] NM_032546,NM_187841 TRIM54,TRIM54 EXON Missense_C263Y,Missense_C221Y exm180774 2 27528543 [T/C] NM_032546,NM_187841 TRIM54,TRIM54 EXON Missense_A276V,Missense_A234V exm180782 2 27528605 [A/G] NM_032546,NM_187841 TRIM54,TRIM54 EXON Missense_D297N,Missense_D255N exm2019274 2 27529103 [A/G] NM_032546,NM_187841 TRIM54,TRIM54 EXON Missense_E339K,Missense_E297K exm180793 2 27529113 [A/G] NM_032546,NM_187841 TRIM54,TRIM54 EXON Missense_G342E,Missense_G300E exm2275571 2 27529154 [A/G] NM_032546,NM_187841 TRIM54,TRIM54 EXON Missense_V356I,Missense_V314I exm180835 2 27535587 [A/G] NM_002437 MPV17 EXON Missense_T80I exm180837 2 27535632 [A/G] NM_002437 MPV17 EXON Missense_V65A exm180839 2 27535859 [A/G] NM_002437 MPV17 Silent exm180846 2 27549562 [A/G] NM_001521,NM_001035521 GTF3C2,GTF3C2 EXON Missense_R906C,Missense_R906C exm-rs1049817 2 27550967 [A/G] NM_001521,NM_001035521 GTF3C2,GTF3C2 EXON Synonymous_P782P,Synonymous_P782P exm180877 2 27552071 [A/G] NM_001521,NM_001035521 GTF3C2,GTF3C2 EXON Synonymous_S652S,Synonymous_S652S exm2255297 2 27552071 [A/G] NM_001521,NM_001035521 GTF3C2,GTF3C2 EXON Synonymous_S652S,Synonymous_S652S exm180895 2 27558788 [T/C] NM_001521,NM_001035521,NR_038427 GTF3C2,GTF3C2,LOC100505624 EXON Missense_R488Q,Missense_R488Q,Silent exm180897 2 27558834 [C/G] NM_001521,NM_001035521,NR_038427 GTF3C2,GTF3C2,LOC100505624 EXON Missense_L473V,Missense_L473V,Silent exm180909 2 27559188 [G/C] NM_001521,NM_001035521,NR_038427 GTF3C2,GTF3C2,LOC100505624 EXON Missense_A411G,Missense_A411G,Silent exm180940 2 27565880 [A/G] NM_001521,NM_001035521 GTF3C2,GTF3C2 EXON Missense_L128F,Missense_L128F exm180943 2 27565963 [G/C] NM_001521,NM_001035521 GTF3C2,GTF3C2 EXON Missense_G100A,Missense_G100A exm180950 2 27566258 [A/G] NM_001521,NM_001035521 GTF3C2,GTF3C2 EXON Missense_T55I,Missense_T55I exm180965 2 27587440 [A/G] NM_172195,NM_015636,NM_001034116 EIF2B4,EIF2B4,EIF2B4 EXON Missense_R487W,Missense_R466W,Missense_R467W exm2255298 2 27587724 [A/G] NM_172195,NM_015636,NM_001034116 EIF2B4,EIF2B4,EIF2B4 EXON Synonymous_N431N,Synonymous_N410N,Synonymous_N411N exm180986 2 27589993 [A/G] NM_172195,NM_015636,NM_001034116 EIF2B4,EIF2B4,EIF2B4 EXON Missense_R341C,Missense_R320C,Missense_R321C exm180987 2 27590007 [C/G] NM_172195,NM_015636,NM_001034116 EIF2B4,EIF2B4,EIF2B4 EXON Missense_A336G,Missense_A315G,Missense_A316G exm180990 2 27590038 [G/C] NM_172195,NM_015636,NM_001034116 EIF2B4,EIF2B4,EIF2B4 EXON Missense_R326G,Missense_R305G,Missense_R306G exm2019382 2 27592744 [A/C] NM_172195,NM_015636,NM_001034116 EIF2B4,EIF2B4,EIF2B4 EXON Missense_G46V,Missense_G25V,Missense_G25V exm181052 2 27594142 [A/C] NR_049786,NM_001267059,NR_049784,NR_049785,NM_014748,NM_001267061,NR_049787,NR_049788,NR_049783,NM_001267060,NR_049782 SNX17,SNX17,SNX17,SNX17,SNX17,SNX17,SNX17,SNX17,SNX17,SNX17,SNX17 EXON Silent,Missense_N24H,Silent,Silent,Missense_N24H,Missense_N4H,Silent,Silent,Silent,Silent,Silent exm181067 2 27596143 [A/G] NR_049786,NM_001267059,NR_049784,NR_049785,NM_014748,NM_001267061,NR_049787,NR_049788,NR_049783,NM_001267060,NR_049782 SNX17,SNX17,SNX17,SNX17,SNX17,SNX17,SNX17,SNX17,SNX17,SNX17,SNX17 EXON Silent,Missense_E84K,Silent,Silent,Missense_E96K,Missense_E76K,Silent,Silent,Silent,Missense_E71K,Silent exm181087 2 27597588 [T/C] NR_049786,NM_001267059,NR_049784,NR_049785,NM_014748,NM_001267061,NR_049787,NR_049788,NR_049783,NM_001267060,NR_049782 SNX17,SNX17,SNX17,SNX17,SNX17,SNX17,SNX17,SNX17,SNX17,SNX17,SNX17 EXON Silent,Missense_M203T,Silent,Silent,Missense_M215T,Missense_M195T,Silent,Silent,Silent,Missense_M190T,Silent exm181088 2 27597597 [A/G] NR_049786,NM_001267059,NR_049784,NR_049785,NM_014748,NM_001267061,NR_049787,NR_049788,NR_049783,NM_001267060,NR_049782 SNX17,SNX17,SNX17,SNX17,SNX17,SNX17,SNX17,SNX17,SNX17,SNX17,SNX17 EXON Silent,Missense_R206Q,Silent,Silent,Missense_R218Q,Missense_R198Q,Silent,Silent,Silent,Missense_R193Q,Silent exm181101 2 27598473 [T/C] NR_049786,NM_001267059,NR_049784,NR_049785,NM_014748,NM_001267061,NR_049787,NR_049788,NR_049783,NM_001267060,NR_049782 SNX17,SNX17,SNX17,SNX17,SNX17,SNX17,SNX17,SNX17,SNX17,SNX17,SNX17 EXON Silent,Missense_A280V,Silent,Silent,Missense_A292V,Missense_A272V,Silent,Silent,Silent,Missense_A267V,Silent exm181112 2 27598759 [G/C] NR_049786,NM_001267059,NR_049784,NR_049785,NM_014748,NM_001267061,NR_049787,NR_049788,NR_049783,NM_001267060,NR_049782 SNX17,SNX17,SNX17,SNX17,SNX17,SNX17,SNX17,SNX17,SNX17,SNX17,SNX17 EXON Silent,Missense_G330A,Silent,Silent,Missense_G342A,Missense_G322A,Silent,Silent,Silent,Missense_G317A,Silent exm181140 2 27600437 [T/C] NM_144631,NM_001201459 ZNF513,ZNF513 EXON Missense_R534Q,Missense_R472Q exm181145 2 27600555 [T/C] NM_144631,NM_001201459 ZNF513,ZNF513 EXON Missense_G495S,Missense_G433S exm181171 2 27601088 [T/C] NM_144631,NM_001201459 ZNF513,ZNF513 EXON Missense_R317Q,Missense_R255Q exm181176 2 27601160 [T/C] NM_144631,NM_001201459 ZNF513,ZNF513 EXON Missense_R293Q,Missense_R231Q exm181177 2 27601172 [G/C] NM_144631,NM_001201459 ZNF513,ZNF513 EXON Missense_C289S,Missense_C227S exm181182 2 27601352 [T/C] NM_144631,NM_001201459 ZNF513,ZNF513 EXON Missense_V261M,Missense_V199M exm181185 2 27601384 [T/C] NM_144631,NM_001201459 ZNF513,ZNF513 EXON Missense_R250Q,Missense_R188Q exm181189 2 27601423 [A/G] NM_144631,NM_001201459 ZNF513,ZNF513 EXON Missense_P237L,Missense_P175L exm181191 2 27601439 [A/G] NM_144631,NM_001201459 ZNF513,ZNF513 EXON Missense_P232S,Missense_P170S exm181195 2 27601514 [A/G] NM_144631,NM_001201459 ZNF513,ZNF513 EXON Missense_R207C,Missense_R145C exm181213 2 27603003 [A/G] NM_144631,NM_001201459 ZNF513,ZNF513 EXON Synonymous_D56D,Silent exm181214 2 27603049 [A/C] NM_144631,NM_001201459 ZNF513,ZNF513 EXON Missense_G41V,Silent exm181222 2 27604482 [T/G] NM_177983 PPM1G EXON Missense_K542T exm181223 2 27604483 [T/C] NM_177983 PPM1G EXON Missense_K542E exm181244 2 27607712 [A/G] NM_177983 PPM1G EXON Missense_S218L exm181250 2 27607764 [A/G] NM_177983 PPM1G EXON Missense_S201P exm181255 2 27607830 [T/C] NM_177983 PPM1G EXON Missense_E179K exm181302 2 27663326 [A/G] NM_013392 NRBP1 EXON Missense_V365I exm2237552 2 27664043 [A/G] NM_013392 NRBP1 EXON Missense_H460R exm181313 2 27664047 [T/C] NM_013392 NRBP1 EXON Synonymous_H461H exm181320 2 27664588 [A/G] NM_013392 NRBP1 EXON Missense_R506Q exm181341 2 27665973 [A/C] NM_173853,NM_001168364 KRTCAP3,KRTCAP3 EXON Missense_N102K,Missense_N102K exm2019508 2 27666005 [T/G] NM_173853,NM_001168364 KRTCAP3,KRTCAP3 EXON Missense_L113R,Missense_L113R exm181346 2 27666025 [A/G] NM_173853,NM_001168364 KRTCAP3,KRTCAP3 EXON Missense_T120A,Missense_T120A exm181350 2 27666107 [T/C] NM_173853,NM_001168364 KRTCAP3,KRTCAP3 EXON Missense_P147L,Missense_P147L exm181360 2 27666385 [A/G] NM_173853,NM_001168364 KRTCAP3,KRTCAP3 EXON Missense_G201R,Missense_G201R exm181361 2 27666834 [T/C] NM_173853,NM_001168364 KRTCAP3,KRTCAP3 EXON Missense_L212F,Missense_L212F exm181371 2 27668163 [G/C] NM_001168364,NM_015662 KRTCAP3,IFT172 EXON Silent,Missense_G1690R exm181374 2 27668231 [T/C] NM_001168364,NM_015662 KRTCAP3,IFT172 EXON Silent,Missense_R1667H exm181377 2 27668298 [T/C] NM_001168364,NM_015662 KRTCAP3,IFT172 EXON Silent,Missense_V1645I exm2019527 2 27668800 [A/G] NM_001168364,NM_015662 KRTCAP3,IFT172 EXON Silent,Missense_T1604I exm181384 2 27668816 [A/G] NM_001168364,NM_015662 KRTCAP3,IFT172 EXON Silent,Missense_R1599C exm181386 2 27669137 [A/G] NM_001168364,NM_015662 KRTCAP3,IFT172 EXON Silent,Missense_I1582T exm181387 2 27669216 [T/C] NM_001168364,NM_015662 KRTCAP3,IFT172 EXON Silent,Missense_V1556M exm181406 2 27671847 [A/G] NM_015662 IFT172 EXON Missense_R1455W exm181412 2 27672198 [T/C] NM_015662 IFT172 EXON Missense_G1425D exm181415 2 27672381 [G/C] NM_015662 IFT172 EXON Missense_Q1403H exm181440 2 27676886 [T/C] NM_015662 IFT172 EXON Missense_R1225Q exm181441 2 27676887 [A/G] NM_015662 IFT172 EXON Missense_R1225W exm181444 2 27676950 [G/C] NM_015662 IFT172 EXON Missense_V1204L exm181453 2 27677464 [A/C] NM_015662 IFT172 EXON Missense_H1145Q exm181454 2 27677472 [T/C] NM_015662 IFT172 EXON Missense_E1143K exm181456 2 27677498 [A/C] NM_015662 IFT172 EXON Missense_R1134L exm181457 2 27677499 [A/G] NM_015662 IFT172 EXON Missense_R1134W exm181470 2 27680746 [G/C] NM_015662 IFT172 EXON Missense_P1025A exm181471 2 27680778 [A/T] NM_015662 IFT172 EXON Missense_D1014V exm181472 2 27680789 [T/G] NM_015662 IFT172 EXON Missense_H1010Q exm181479 2 27681657 [A/G] NM_015662 IFT172 EXON Nonsense_Q956X exm181480 2 27681665 [T/C] NM_015662 IFT172 EXON Missense_R953H exm181483 2 27682262 [A/C] NM_015662 IFT172 EXON Missense_S924A exm181484 2 27682309 [T/C] NM_015662 IFT172 EXON Missense_R908Q exm181488 2 27682621 [T/C] NM_015662 IFT172 EXON Missense_Q866R exm181489 2 27682667 [A/C] NM_015662 IFT172 EXON Missense_V851L exm181495 2 27684228 [A/G] NM_015662 IFT172 EXON Missense_R784W exm181503 2 27684660 [T/C] NM_015662 IFT172 EXON Missense_R720H exm181515 2 27685971 [T/C] NM_015662 IFT172 EXON Missense_R672Q exm181518 2 27685995 [T/C] NM_015662 IFT172 EXON Missense_N664S exm181520 2 27686003 [T/A] NM_015662 IFT172 EXON Missense_H661Q exm2019595 2 27693796 [T/C] NM_015662 IFT172 EXON Missense_R564K exm181538 2 27693802 [C/G] NM_015662 IFT172 EXON Missense_T562S exm181541 2 27695118 [T/C] NM_015662 IFT172 EXON Missense_R508H exm181544 2 27695182 [A/G] NM_015662 IFT172 EXON Missense_R487C exm181546 2 27695208 [T/A] NM_015662 IFT172 EXON Missense_N478I exm181548 2 27695215 [T/C] NM_015662 IFT172 EXON Missense_G476S exm181563 2 27700993 [A/G] NM_015662 IFT172 EXON Nonsense_R346X exm181569 2 27702903 [T/C] NM_015662 IFT172 EXON Missense_R300Q exm181572 2 27702971 [G/C] NM_015662 IFT172 EXON Missense_E277D exm181580 2 27704019 [A/G] NM_015662 IFT172 EXON Missense_H227Y exm181598 2 27707890 [T/G] NM_015662 IFT172 EXON Missense_E97D exm181604 2 27708264 [T/C] NM_015662 IFT172 EXON Missense_R49Q exm181606 2 27708298 [A/G] NM_015662 IFT172 EXON Nonsense_R38X exm2265307 2 27711893 [A/G] NM_015662 IFT172 Silent exm181617 2 27715558 [T/C] NM_022823 FNDC4 EXON Missense_Q215R exm181621 2 27716313 [A/G] NM_022823 FNDC4 EXON Missense_R163W exm181637 2 27717419 [T/C] NM_022823 FNDC4 EXON Missense_R43Q exm181640 2 27717504 [T/C] NM_022823 FNDC4 EXON Missense_G15R exm181654 2 27720177 [A/G] NM_001486 GCKR EXON Missense_K43E exm181656 2 27720202 [A/G] NM_001486 GCKR EXON Missense_R51Q exm2237559 2 27720442 [A/G] NM_001486 GCKR EXON Missense_E77G exm181660 2 27720456 [A/G] NM_001486 GCKR EXON Missense_T82A exm181664 2 27721143 [A/G] NM_001486 GCKR EXON Missense_V103M exm181665 2 27721190 [A/G] NM_001486 GCKR EXON Synonymous_S118S exm2019656 2 27721631 [T/C] NM_001486 GCKR EXON Missense_P132L exm181674 2 27722316 [T/C] NM_001486 GCKR EXON Missense_S183F exm181681 2 27726415 [T/C] NM_001486 GCKR EXON Nonsense_R227X exm181683 2 27726437 [A/C] NM_001486 GCKR EXON Missense_Q234P exm181687 2 27726476 [T/C] NM_001486 GCKR EXON Missense_P247L exm181689 2 27728588 [A/G] NM_001486 GCKR EXON Missense_E252K exm181691 2 27728600 [A/G] NM_001486 GCKR EXON Missense_G256S exm181692 2 27728609 [T/C] NM_001486 GCKR EXON Missense_R259W exm181701 2 27729365 [T/G] NM_001486 GCKR EXON Missense_L296W exm181702 2 27729382 [A/G] NM_001486 GCKR EXON Missense_A302T exm181704 2 27729397 [T/G] NM_001486 GCKR EXON Missense_Y307D exm181717 2 27730107 [T/C] NM_001486 GCKR EXON Nonsense_R358X exm181733 2 27730940 [T/C] NM_001486 GCKR EXON Missense_L446P exm181741 2 27741665 [A/G] NM_001486 GCKR EXON Missense_R478H exm181745 2 27741740 [A/G] NM_001486 GCKR EXON Missense_N503S exm2019694 2 27741783 [T/G] NM_001486 GCKR EXON Missense_W517C exm-rs780093 2 27742603 [T/C] NM_001486 GCKR Silent exm181752 2 27745327 [T/C] NM_001486 GCKR EXON Missense_R525W exm181757 2 27745372 [T/C] NM_001486 GCKR EXON Nonsense_R540X exm181758 2 27745373 [A/G] NM_001486 GCKR EXON Missense_R540Q exm181765 2 27746184 [T/G] NM_001486 GCKR EXON Nonsense_E586X exm181768 2 27746196 [T/C] NM_001486 GCKR EXON Missense_H590Y exm-rs1260333 2 27748624 [A/G] exm181780 2 27799465 [A/G] NM_032266 C2orf16 EXON Missense_Q9R exm181782 2 27799489 [T/C] NM_032266 C2orf16 EXON Missense_L17S exm181791 2 27799773 [A/C] NM_032266 C2orf16 EXON Missense_N112H exm181794 2 27799936 [T/G] NM_032266 C2orf16 EXON Missense_G166V exm181798 2 27800073 [A/G] NM_032266 C2orf16 EXON Missense_M212V exm181800 2 27800163 [T/C] NM_032266 C2orf16 EXON Missense_R242W exm2277232 2 27800169 [G/C] NM_032266 C2orf16 EXON Missense_R244G exm181804 2 27800493 [T/C] NM_032266 C2orf16 EXON Missense_P352S exm2019706 2 27800575 [A/C] NM_032266 C2orf16 EXON Missense_T379N exm181826 2 27801115 [A/G] NM_032266 C2orf16 EXON Missense_C559Y exm181827 2 27801127 [T/C] NM_032266 C2orf16 EXON Missense_V563A exm181831 2 27801326 [A/G] NM_032266 C2orf16 EXON Missense_I629M exm181834 2 27801403 [C/G] NM_032266 C2orf16 EXON Missense_T655S exm181835 2 27801418 [A/C] NM_032266 C2orf16 EXON Missense_A660E exm181838 2 27801493 [T/C] NM_032266 C2orf16 EXON Missense_V685A exm181842 2 27801739 [T/C] NM_032266 C2orf16 EXON Missense_I767T exm181843 2 27801759 [A/G] NM_032266 C2orf16 EXON Missense_I774V exm181844 2 27801801 [T/C] NM_032266 C2orf16 EXON Nonsense_Q788X exm181849 2 27801822 [A/G] NM_032266 C2orf16 EXON Missense_A795T exm181850 2 27801832 [A/G] NM_032266 C2orf16 EXON Missense_N798S exm2019717 2 27801904 [T/C] NM_032266 C2orf16 EXON Missense_S822F exm181867 2 27802251 [C/G] NM_032266 C2orf16 EXON Missense_P938A exm2019723 2 27802453 [A/G] NM_032266 C2orf16 EXON Missense_N1005S exm181887 2 27802738 [A/G] NM_032266 C2orf16 EXON Missense_S1100N exm181895 2 27802866 [T/C] NM_032266 C2orf16 EXON Missense_Y1143H exm181900 2 27803007 [T/C] NM_032266 C2orf16 EXON Missense_R1190W exm181908 2 27803089 [T/C] NM_032266 C2orf16 EXON Missense_L1217S exm2237563 2 27803090 [T/G] NM_032266 C2orf16 EXON Missense_L1217F exm181912 2 27803149 [A/G] NM_032266 C2orf16 EXON Missense_R1237H exm181917 2 27803308 [T/C] NM_032266 C2orf16 EXON Missense_M1290T exm181920 2 27803514 [T/C] NM_032266 C2orf16 EXON Missense_R1359W exm2237564 2 27803524 [A/G] NM_032266 C2orf16 EXON Missense_Q1362R exm181936 2 27803814 [A/G] NM_032266 C2orf16 EXON Missense_D1459N exm181938 2 27803947 [T/C] NM_032266 C2orf16 EXON Missense_L1503S exm181950 2 27804114 [T/C] NM_032266 C2orf16 EXON Missense_H1559Y exm181951 2 27804192 [T/C] NM_032266 C2orf16 EXON Missense_P1585S exm181952 2 27804203 [A/G] NM_032266 C2orf16 EXON Synonymous_R1588R exm2255303 2 27804203 [A/G] NM_032266 C2orf16 EXON Synonymous_R1588R exm181954 2 27804257 [A/G] NM_032266 C2orf16 EXON Nonsense_W1606X exm2273776 2 27804355 [A/G] NM_032266 C2orf16 EXON Missense_R1639H exm181959 2 27804357 [A/G] NM_032266 C2orf16 EXON Missense_G1640S exm2237565 2 27804762 [T/C] NM_032266 C2orf16 EXON Missense_R1775C exm182000 2 27804850 [A/G] NM_032266 C2orf16 EXON Missense_R1804K exm182001 2 27804879 [T/C] NM_032266 C2orf16 EXON Missense_R1814C exm182006 2 27804940 [T/C] NM_032266 C2orf16 EXON Missense_F1834S exm182012 2 27805139 [A/C] NM_032266 C2orf16 EXON Missense_S1900R exm182019 2 27805351 [A/G] NM_032266 C2orf16 EXON Missense_N1971S exm-rs13022873 2 27815510 [A/C] NM_001271287,NM_001271288,NM_001271289,NM_001271286,NM_001271318,NM_032434 ZNF512,ZNF512,ZNF512,ZNF512,ZNF512,ZNF512 Silent,Silent,Silent,Silent,Silent,Silent exm182060 2 27830776 [A/G] NM_001271287,NM_001271288,NM_001271289,NM_001271286,NM_001271318,NM_032434 ZNF512,ZNF512,ZNF512,ZNF512,ZNF512,ZNF512 EXON Missense_S257N,Missense_S257N,Missense_S229N,Missense_S305N,Missense_S257N,Missense_S334N exm182087 2 27844293 [T/C] NM_001271287,NM_001271288,NM_001271289,NM_001271286,NM_001271318,NM_032434 ZNF512,ZNF512,ZNF512,ZNF512,ZNF512,ZNF512 EXON Missense_P480S,Missense_P480S,Missense_P452S,Missense_P528S,Missense_P480S,Missense_P557S exm182089 2 27844320 [A/G] NM_001271287,NM_001271288,NM_001271289,NM_001271286,NM_001271318,NM_032434 ZNF512,ZNF512,ZNF512,ZNF512,ZNF512,ZNF512 EXON Missense_R489G,Missense_R489G,Missense_R461G,Missense_R537G,Missense_R489G,Missense_R566G exm182096 2 27849927 [A/G] NM_024584,NM_001142683 CCDC121,CCDC121 EXON Missense_L247P,Missense_L409P exm2237568 2 27849928 [T/G] NM_024584,NM_001142683 CCDC121,CCDC121 EXON Missense_L247M,Missense_L409M exm182118 2 27850315 [T/C] NM_024584,NM_001142683 CCDC121,CCDC121 EXON Missense_E118K,Missense_E280K exm182123 2 27850459 [A/G] NM_024584,NM_001142683 CCDC121,CCDC121 EXON Nonsense_R70X,Nonsense_R232X exm182139 2 27851918 [A/G] NM_001145048,NM_001145047,NM_001145049,NM_007266,NR_026735 GPN1,GPN1,GPN1,GPN1,GPN1 EXON Silent,Silent,Silent,Missense_R12K,Silent exm2019788 2 27851963 [T/C] NM_001145048,NM_001145047,NM_001145049,NM_007266,NR_026735 GPN1,GPN1,GPN1,GPN1,GPN1 EXON Silent,Silent,Silent,Missense_S27F,Silent exm182147 2 27851980 [T/C] NM_001145048,NM_001145047,NM_001145049,NM_007266,NR_026735 GPN1,GPN1,GPN1,GPN1,GPN1 EXON Silent,Silent,Silent,Missense_P33S,Silent exm2237571 2 27852279 [T/G] NM_001145048,NM_001145047,NM_001145049,NM_007266,NR_026735 GPN1,GPN1,GPN1,GPN1,GPN1 EXON Silent,Missense_I15M,Silent,Silent,Silent exm182162 2 27853906 [T/C] NM_001145048,NM_001145047,NM_001145049,NM_007266,NR_026735 GPN1,GPN1,GPN1,GPN1,GPN1 EXON Silent,Missense_T61I,Silent,Missense_T87I,Silent exm182169 2 27855531 [T/C] NM_001145048,NM_001145047,NM_001145049,NM_007266,NR_026735 GPN1,GPN1,GPN1,GPN1,GPN1 EXON Missense_M36T,Missense_M103T,Missense_M20T,Missense_M129T,Silent exm182181 2 27861811 [A/C] NM_001145048,NM_001145047,NM_001145049,NM_007266,NR_026735 GPN1,GPN1,GPN1,GPN1,GPN1 EXON Missense_Q131H,Missense_Q198H,Missense_Q115H,Missense_Q224H,Silent exm2019811 2 27870725 [A/C] NM_001145048,NM_001145047,NM_001145049,NM_007266,NR_026735 GPN1,GPN1,GPN1,GPN1,GPN1 EXON Missense_H239Q,Missense_H306Q,Missense_H223Q,Missense_H332Q,Silent exm182205 2 27873054 [T/G] NM_001145048,NM_001145047,NM_001145049,NM_007266,NR_026735 GPN1,GPN1,GPN1,GPN1,GPN1 EXON Missense_R292I,Missense_R359I,Missense_R276I,Missense_R385I,Silent exm182211 2 27876539 [T/C] NM_014860 SUPT7L EXON Missense_N353S exm182217 2 27878328 [T/C] NM_014860 SUPT7L EXON Missense_A296T exm182222 2 27878406 [T/C] NM_014860 SUPT7L EXON Missense_A270T exm182232 2 27880308 [T/C] NM_014860 SUPT7L EXON Missense_M216I exm182239 2 27883851 [T/C] NM_014860 SUPT7L EXON Missense_R140H exm182241 2 27883899 [T/G] NM_014860 SUPT7L EXON Missense_N124T exm2237574 2 27883947 [A/G] NM_014860 SUPT7L EXON Missense_S108L exm182243 2 27883990 [T/C] NM_014860 SUPT7L EXON Missense_V94I exm182245 2 27884046 [T/C] NM_014860 SUPT7L EXON Missense_R75H exm182246 2 27884049 [T/C] NM_014860 SUPT7L EXON Missense_R74Q exm182257 2 27886669 [T/C] NM_018158 SLC4A1AP EXON Missense_P17L exm182260 2 27886701 [A/G] NM_018158 SLC4A1AP EXON Missense_G28R exm182261 2 27886725 [G/C] NM_018158 SLC4A1AP EXON Missense_V36L exm182267 2 27886778 [C/G] NM_018158 SLC4A1AP EXON Missense_L53F exm182278 2 27887034 [A/C] NM_018158 SLC4A1AP EXON Missense_P139T exm182283 2 27887160 [T/C] NM_018158 SLC4A1AP EXON Missense_R181C exm182295 2 27890190 [T/G] NM_018158 SLC4A1AP EXON Missense_Q359H exm182306 2 27898405 [A/G] NM_018158 SLC4A1AP EXON Missense_R451Q exm182322 2 27905126 [A/C] NM_018158 SLC4A1AP EXON Missense_Q592P exm182325 2 27907918 [C/G] NM_018158 SLC4A1AP EXON Missense_K630N exm182326 2 27907920 [A/G] NM_018158 SLC4A1AP EXON Missense_R631H exm2237576 2 27908127 [A/G] NM_018158 SLC4A1AP EXON Missense_K700R exm182337 2 27910821 [A/G] NM_018158 SLC4A1AP EXON Missense_E713K exm-rs12104449 2 27972833 [A/G] exm2265128 2 27995931 [A/G] NM_145330,NM_004891 MRPL33,MRPL33 Silent,Silent exm182364 2 28002421 [T/C] NM_145330,NM_004891 MRPL33,MRPL33 EXON Missense_X55Q,Silent exm182372 2 28004570 [G/C] NM_022128 RBKS EXON Missense_S294C exm182375 2 28004583 [T/C] NM_022128 RBKS EXON Missense_M290V exm182376 2 28004606 [T/G] NM_022128 RBKS EXON Missense_Y282S exm2269260 2 28015544 [T/C] NM_022128 RBKS Silent exm182381 2 28050468 [A/G] NM_022128 RBKS EXON Missense_I254T exm182385 2 28050589 [T/C] NM_022128 RBKS EXON Missense_A214T exm182392 2 28055626 [A/G] NM_022128 RBKS EXON Missense_P178L exm182405 2 28069921 [T/C] NM_022128 RBKS EXON Missense_V113I exm182406 2 28069927 [T/C] NM_022128 RBKS EXON Missense_I111V exm182409 2 28070934 [T/A] NM_022128 RBKS EXON Missense_I85L exm182417 2 28081439 [G/C] NM_022128 RBKS Silent exm182420 2 28113157 [A/G] NM_022128,NR_028308 RBKS,BRE-AS1 EXON Missense_V19A,Silent exm182426 2 28117453 [A/G] NM_199193,NM_199192,NM_004899,NM_199194,NM_199191,NM_001261840 BRE,BRE,BRE,BRE,BRE,BRE EXON Missense_I10M,Missense_I10M,Missense_I10M,Missense_I10M,Missense_I10M,Missense_I10M exm182427 2 28117455 [C/G] NM_199193,NM_199192,NM_004899,NM_199194,NM_199191,NM_001261840 BRE,BRE,BRE,BRE,BRE,BRE EXON Missense_S11C,Missense_S11C,Missense_S11C,Missense_S11C,Missense_S11C,Missense_S11C exm182450 2 28248190 [A/G] NM_199193,NM_199192,NM_004899,NM_199194,NM_199191,NM_001261840 BRE,BRE,BRE,BRE,BRE,BRE EXON Missense_R133Q,Missense_R133Q,Missense_R133Q,Missense_R133Q,Missense_R133Q,Missense_R133Q exm182453 2 28248261 [A/G] NM_199193,NM_199192,NM_004899,NM_199194,NM_199191,NM_001261840 BRE,BRE,BRE,BRE,BRE,BRE EXON Missense_I157V,Missense_I157V,Missense_I157V,Missense_I157V,Missense_I157V,Missense_I157V exm-rs6547829 2 28323869 [T/C] NM_199193,NM_199192,NM_004899,NM_199194,NM_199191,NM_001261840 BRE,BRE,BRE,BRE,BRE,BRE Silent,Silent,Silent,Silent,Silent,Silent exm-rs4401177 2 28344285 [A/G] NM_199193,NM_199192,NM_004899,NM_199194,NM_199191,NM_001261840 BRE,BRE,BRE,BRE,BRE,BRE Silent,Silent,Silent,Silent,Silent,Silent exm182459 2 28460136 [A/G] NM_199193,NM_199192,NM_004899,NM_199194,NM_199191,NM_001261840 BRE,BRE,BRE,BRE,BRE,BRE EXON Missense_V250I,Missense_V250I,Missense_V250I,Missense_V250I,Missense_V250I,Missense_V250I exm182481 2 28561330 [A/G] NM_199193,NM_199192,NM_004899,NM_199194,NM_199191,NM_001261840 BRE,BRE,BRE,BRE,BRE,BRE EXON Silent,Silent,Silent,Missense_T368A,Missense_T368A,Silent exm182489 2 28626981 [A/G] NM_005253 FOSL2 EXON Missense_R37Q exm182510 2 28634978 [T/C] NM_005253 FOSL2 EXON Missense_S215L exm2237578 2 28635038 [T/C] NM_005253 FOSL2 EXON Missense_S235L exm2255308 2 28645120 [A/C] exm182532 2 28718991 [T/C] NM_001170585,NM_153021 PLB1,PLB1 EXON Missense_R4W,Missense_R4W exm182538 2 28741357 [T/C] NM_001170585,NM_153021 PLB1,PLB1 EXON Missense_C48R,Missense_C48R exm182541 2 28741376 [G/C] NM_001170585,NM_153021 PLB1,PLB1 EXON Missense_G54A,Missense_G54A exm182542 2 28742590 [T/C] NM_001170585,NM_153021 PLB1,PLB1 EXON Missense_S68F,Missense_S68F exm182548 2 28748165 [A/G] NM_001170585,NM_153021 PLB1,PLB1 EXON Missense_K92R,Missense_K92R exm182565 2 28752593 [A/G] NM_001170585,NM_153021 PLB1,PLB1 Silent,Silent exm182575 2 28754998 [G/C] NM_001170585,NM_153021 PLB1,PLB1 EXON Missense_W164C,Missense_W164C exm2237580 2 28755033 [A/G] NM_001170585,NM_153021 PLB1,PLB1 EXON Missense_Q176R,Missense_Q176R exm182586 2 28761981 [C/G] NM_001170585,NM_153021 PLB1,PLB1 EXON Missense_V223L,Missense_V212L exm182589 2 28763240 [A/C] NM_001170585,NM_153021 PLB1,PLB1 EXON Missense_P247T,Missense_P236T exm182590 2 28763267 [A/G] NM_001170585,NM_153021 PLB1,PLB1 EXON Missense_T256A,Missense_T245A exm182592 2 28763274 [A/G] NM_001170585,NM_153021 PLB1,PLB1 EXON Missense_R258Q,Missense_R247Q exm182593 2 28763306 [T/C] NM_001170585,NM_153021 PLB1,PLB1 EXON Nonsense_Q269X,Nonsense_Q258X exm182595 2 28764572 [A/C] NM_001170585,NM_153021 PLB1,PLB1 Silent,Silent exm182597 2 28764604 [A/G] NM_001170585,NM_153021 PLB1,PLB1 EXON Missense_R280G,Missense_R269G exm182603 2 28764632 [T/C] NM_001170585,NM_153021 PLB1,PLB1 EXON Missense_V289A,Missense_V278A exm182607 2 28764678 [A/G] NM_001170585,NM_153021 PLB1,PLB1 EXON Synonymous_S304S,Synonymous_S293S exm182609 2 28766083 [A/T] NM_001170585,NM_153021 PLB1,PLB1 EXON Missense_D306V,Missense_D295V exm182610 2 28766107 [T/C] NM_001170585,NM_153021 PLB1,PLB1 EXON Missense_T314M,Missense_T303M exm182612 2 28766134 [T/C] NM_001170585,NM_153021 PLB1,PLB1 EXON Missense_M323T,Missense_M312T exm182619 2 28772887 [A/G] NM_001170585,NM_153021 PLB1,PLB1 EXON Missense_Y351C,Missense_Y340C exm182621 2 28775840 [A/G] NM_001170585,NM_153021 PLB1,PLB1 EXON Missense_D388N,Missense_D377N exm182624 2 28785966 [A/G] NM_001170585,NM_153021 PLB1,PLB1 EXON Synonymous_T413T,Synonymous_T402T exm182627 2 28788180 [A/G] NM_001170585,NM_153021 PLB1,PLB1 EXON Missense_V425I,Missense_V414I exm182636 2 28796065 [T/C] NM_001170585,NM_153021 PLB1,PLB1 EXON Synonymous_N453N,Synonymous_N442N exm2020005 2 28796073 [A/G] NM_001170585,NM_153021 PLB1,PLB1 EXON Missense_R456Q,Missense_R445Q exm182637 2 28796138 [T/C] NM_001170585,NM_153021 PLB1,PLB1 EXON Missense_F478L,Missense_F467L exm182640 2 28796165 [T/C] NM_001170585,NM_153021 PLB1,PLB1 EXON Nonsense_R487X,Nonsense_R476X exm182643 2 28800989 [T/G] NM_001170585,NM_153021 PLB1,PLB1 EXON Missense_Q494H,Missense_Q483H exm182652 2 28804947 [C/G] NM_001170585,NM_153021 PLB1,PLB1 EXON Silent,Missense_P527A exm182656 2 28805279 [A/G] NM_001170585,NM_153021 PLB1,PLB1 EXON Missense_R536Q,Missense_R547Q exm182657 2 28805300 [T/C] NM_001170585,NM_153021 PLB1,PLB1 EXON Missense_T543M,Missense_T554M exm182658 2 28805314 [A/G] NM_001170585,NM_153021 PLB1,PLB1 EXON Missense_V548I,Missense_V559I exm182661 2 28805359 [A/G] NM_001170585,NM_153021 PLB1,PLB1 EXON Missense_R563G,Missense_R574G exm182664 2 28808628 [A/G] NM_001170585,NM_153021 PLB1,PLB1 EXON Synonymous_R567R,Synonymous_R578R exm182667 2 28808668 [A/G] NM_001170585,NM_153021 PLB1,PLB1 EXON Missense_T581A,Missense_T592A exm182684 2 28812569 [A/G] NM_001170585,NM_153021 PLB1,PLB1 EXON Missense_A639T,Missense_A650T exm182687 2 28812589 [C/G] NM_001170585,NM_153021 PLB1,PLB1 EXON Missense_F645L,Missense_F656L exm2237582 2 28812608 [T/C] NM_001170585,NM_153021 PLB1,PLB1 EXON Nonsense_R652X,Nonsense_R663X exm182690 2 28812894 [T/C] NM_001170585,NM_153021 PLB1,PLB1 EXON Missense_T669M,Missense_T680M exm182697 2 28814005 [C/G] NM_001170585,NM_153021 PLB1,PLB1 EXON Missense_Q687H,Missense_Q698H exm182700 2 28814033 [A/G] NM_001170585,NM_153021 PLB1,PLB1 EXON Missense_M697V,Missense_M708V exm182715 2 28815586 [T/C] NM_001170585,NM_153021 PLB1,PLB1 EXON Synonymous_T738T,Synonymous_T749T exm182717 2 28815588 [T/G] NM_001170585,NM_153021 PLB1,PLB1 Silent,Silent exm182735 2 28821560 [A/G] NM_001170585,NM_153021 PLB1,PLB1 EXON Missense_V792M,Missense_V803M exm182738 2 28821585 [T/C] NM_001170585,NM_153021 PLB1,PLB1 EXON Missense_T800M,Missense_T811M exm182739 2 28821588 [T/A] NM_001170585,NM_153021 PLB1,PLB1 EXON Missense_N801I,Missense_N812I exm182741 2 28821614 [A/G] NM_001170585,NM_153021 PLB1,PLB1 EXON Missense_G810R,Missense_G821R exm182744 2 28823684 [T/C] NM_001170585,NM_153021 PLB1,PLB1 EXON Missense_M817T,Missense_M828T exm182748 2 28823718 [A/C] NM_001170585,NM_153021 PLB1,PLB1 EXON Missense_K828N,Missense_K839N exm182753 2 28824173 [A/G] NM_001170585,NM_153021 PLB1,PLB1 EXON Missense_D850N,Missense_D861N exm182755 2 28824199 [A/G] NM_001170585,NM_153021 PLB1,PLB1 EXON Synonymous_S858S,Synonymous_S869S exm182759 2 28824793 [C/G] NM_001170585,NM_153021 PLB1,PLB1 EXON Missense_H868D,Missense_H879D exm182760 2 28824802 [T/C] NM_001170585,NM_153021 PLB1,PLB1 EXON Missense_R871C,Missense_R882C exm182761 2 28824803 [A/G] NM_001170585,NM_153021 PLB1,PLB1 EXON Missense_R871H,Missense_R882H exm182765 2 28825724 [T/A] NM_001170585,NM_153021 PLB1,PLB1 EXON Missense_N893Y,Missense_N904Y exm182766 2 28825739 [T/C] NM_001170585,NM_153021 PLB1,PLB1 EXON Missense_R898W,Missense_R909W exm182774 2 28826912 [T/C] NM_001170585,NM_153021 PLB1,PLB1 EXON Missense_R941W,Missense_R952W exm182776 2 28826915 [A/G] NM_001170585,NM_153021 PLB1,PLB1 Silent,Silent exm2020061 2 28827609 [A/C] NM_001170585,NM_153021 PLB1,PLB1 EXON Missense_Q971K,Missense_Q982K exm182784 2 28827625 [T/C] NM_001170585,NM_153021 PLB1,PLB1 EXON Missense_A976V,Missense_A987V exm182788 2 28828739 [C/G] NM_001170585,NM_153021 PLB1,PLB1 EXON Missense_S983C,Missense_S994C exm182792 2 28828760 [T/C] NM_001170585,NM_153021 PLB1,PLB1 EXON Missense_I990T,Missense_I1001T exm182801 2 28836901 [A/G] NM_001170585,NM_153021 PLB1,PLB1 EXON Missense_E1034K,Missense_E1045K exm182802 2 28836922 [T/C] NM_001170585,NM_153021 PLB1,PLB1 EXON Missense_R1041W,Missense_R1052W exm182808 2 28841228 [A/G] NM_001170585,NM_153021 PLB1,PLB1 EXON Missense_D1082N,Missense_D1093N exm182810 2 28841246 [A/G] NM_001170585,NM_153021 PLB1,PLB1 EXON Missense_A1088T,Missense_A1099T exm182812 2 28843138 [C/G] NM_001170585,NM_153021 PLB1,PLB1 EXON Missense_V1097L,Missense_V1108L exm182814 2 28843148 [A/G] NM_001170585,NM_153021 PLB1,PLB1 EXON Missense_R1100Q,Missense_R1111Q exm182818 2 28843474 [C/G] NM_001170585,NM_153021 PLB1,PLB1 EXON Missense_G1120R,Missense_G1131R exm182824 2 28847976 [A/G] NM_001170585,NM_153021 PLB1,PLB1 Silent,Silent exm182825 2 28849308 [A/G] NM_001170585,NM_153021 PLB1,PLB1 EXON Missense_E1187G,Missense_E1198G exm182835 2 28851431 [A/C] NM_001170585,NM_153021 PLB1,PLB1 EXON Missense_E1210A,Missense_E1221A exm182842 2 28852019 [A/G] NM_001170585,NM_153021 PLB1,PLB1 EXON Missense_G1251D,Missense_G1262D exm182851 2 28854946 [A/G] NM_001170585,NM_153021 PLB1,PLB1 EXON Missense_R1303H,Missense_R1314H exm182853 2 28854958 [T/C] NM_001170585,NM_153021 PLB1,PLB1 EXON Missense_A1307V,Missense_A1318V exm182856 2 28854972 [A/C] NM_001170585,NM_153021 PLB1,PLB1 EXON Missense_P1312T,Missense_P1323T exm182857 2 28854983 [A/C] NM_001170585,NM_153021 PLB1,PLB1 EXON Missense_Q1315H,Missense_Q1326H exm182867 2 28855866 [A/G] NM_001170585,NM_153021 PLB1,PLB1 EXON Missense_R1342H,Missense_R1353H exm182874 2 28863817 [A/G] NM_001170585,NM_153021 PLB1,PLB1 EXON Missense_T1364A,Missense_T1375A exm182880 2 28865790 [A/G] NM_001170585,NM_153021 PLB1,PLB1 EXON Missense_E1403K,Missense_E1414K exm182885 2 28865829 [A/G] NM_001170585,NM_153021 PLB1,PLB1 EXON Missense_G1416S,Missense_G1427S exm182886 2 28865850 [A/G] NM_001170585,NM_153021 PLB1,PLB1 EXON Missense_G1423R,Missense_G1434R exm182888 2 28865884 [A/G] NM_001170585,NM_153021 PLB1,PLB1 EXON Missense_R1434Q,Missense_R1445Q exm182937 2 29038987 [A/G] NM_001142634,NM_182756,NM_001008779 SPDYA,SPDYA,SPDYA EXON Missense_R36H,Missense_R36H,Missense_R36H exm182938 2 29038996 [T/G] NM_001142634,NM_182756,NM_001008779 SPDYA,SPDYA,SPDYA EXON Missense_C39F,Missense_C39F,Missense_C39F exm182939 2 29039007 [T/C] NM_001142634,NM_182756,NM_001008779 SPDYA,SPDYA,SPDYA EXON Missense_W43R,Missense_W43R,Missense_W43R exm182953 2 29063341 [A/G] NM_001142634,NM_182756,NM_001008779 SPDYA,SPDYA,SPDYA EXON Silent,Silent,Missense_I286V exm182954 2 29063342 [T/C] NM_001142634,NM_182756,NM_001008779 SPDYA,SPDYA,SPDYA EXON Silent,Silent,Missense_I286T exm-rs6737027 2 29070805 [T/C] NM_001142634,NM_182756 SPDYA,SPDYA Silent,Silent exm182961 2 29073096 [T/G] NM_001142634,NM_182756,NM_017910 SPDYA,SPDYA,TRMT61B EXON Silent,Silent,Missense_K468T exm182973 2 29074121 [T/C] NM_017910 TRMT61B EXON Missense_E377K exm182974 2 29074141 [A/G] NM_017910 TRMT61B EXON Missense_L370S exm182983 2 29083992 [A/T] NM_017910 TRMT61B EXON Missense_F329I exm182984 2 29084010 [G/C] NM_017910 TRMT61B EXON Missense_D323H exm182987 2 29084055 [T/C] NM_017910 TRMT61B EXON Missense_D308N exm182988 2 29084074 [T/A] NM_017910 TRMT61B EXON Missense_S301R exm182994 2 29084160 [A/G] NM_017910 TRMT61B EXON Nonsense_R273X exm182997 2 29087915 [A/G] NM_017910 TRMT61B EXON Missense_S257F exm2020159 2 29092543 [A/G] NM_017910 TRMT61B EXON Synonymous_L201L exm183007 2 29092573 [T/C] NM_017910 TRMT61B EXON Missense_K191E exm183013 2 29092735 [A/G] NM_017910 TRMT61B EXON Missense_R137C exm183014 2 29092750 [T/A] NM_017910 TRMT61B EXON Missense_T132S exm183017 2 29092825 [T/C] NM_017910 TRMT61B EXON Missense_G107R exm183019 2 29092840 [A/G] NM_017910 TRMT61B EXON Missense_L102F exm183024 2 29092920 [A/G] NM_017910 TRMT61B EXON Missense_S75L exm183025 2 29092933 [A/G] NM_017910 TRMT61B EXON Missense_P71S exm183031 2 29093075 [G/C] NM_017910 TRMT61B EXON Missense_F23L exm183039 2 29093143 [T/C] NM_017910 TRMT61B EXON Missense_M1V exm183045 2 29117694 [T/G] NM_015131 WDR43 EXON Missense_A44S exm183050 2 29124889 [A/G] NM_015131 WDR43 EXON Missense_V88I exm183053 2 29124976 [T/C] NM_015131 WDR43 EXON Missense_H117Y exm183057 2 29129382 [T/G] NM_015131 WDR43 EXON Missense_C140W exm183063 2 29135473 [A/G] NM_015131 WDR43 EXON Missense_N168S exm183065 2 29135479 [G/C] NM_015131 WDR43 EXON Missense_S170T exm183068 2 29135572 [A/G] NM_015131 WDR43 EXON Missense_Y201C exm183091 2 29148008 [A/G] NM_015131 WDR43 EXON Missense_I359V exm183092 2 29148009 [T/C] NM_015131 WDR43 EXON Missense_I359T exm183121 2 29164343 [A/C] NM_015131 WDR43 EXON Missense_P546H exm183123 2 29164387 [A/G] NM_015131 WDR43 EXON Missense_T561A exm183135 2 29169605 [A/G] NM_015131 WDR43 EXON Missense_D665G exm2265308 2 29218411 [A/G] NM_199280 FAM179A Silent exm183149 2 29222070 [A/G] NM_199280 FAM179A EXON Missense_A55T exm183152 2 29222107 [A/G] NM_199280 FAM179A EXON Missense_R67H exm183153 2 29222118 [T/C] NM_199280 FAM179A EXON Nonsense_Q71X exm183154 2 29222214 [T/C] NM_199280 FAM179A EXON Missense_P103S exm183156 2 29222272 [A/T] NM_199280 FAM179A EXON Missense_I122N exm183163 2 29225458 [T/C] NM_199280 FAM179A EXON Nonsense_R162X exm183168 2 29225504 [T/C] NM_199280 FAM179A EXON Missense_L177P exm183169 2 29225566 [T/C] NM_199280 FAM179A EXON Missense_P198S exm183171 2 29225579 [T/C] NM_199280 FAM179A EXON Missense_P202L exm183175 2 29226389 [A/G] NM_199280 FAM179A EXON Missense_N224S exm183183 2 29226512 [A/G] NM_199280 FAM179A EXON Missense_Q265R exm183184 2 29226515 [T/G] NM_199280 FAM179A EXON Missense_G266V exm183193 2 29237314 [C/G] NM_199280 FAM179A EXON Missense_P311A exm183196 2 29237348 [T/C] NM_199280 FAM179A EXON Missense_L322P exm183198 2 29237383 [T/C] NM_199280 FAM179A EXON Missense_C334R exm183201 2 29237425 [A/G] NM_199280 FAM179A EXON Missense_K348E exm183204 2 29240050 [G/C] NM_199280 FAM179A EXON Missense_E359Q exm183205 2 29240060 [A/G] NM_199280 FAM179A EXON Missense_Q362R exm183206 2 29240085 [C/G] NM_199280 FAM179A EXON Missense_E370D exm183207 2 29240092 [T/C] NM_199280 FAM179A EXON Missense_R373W exm183209 2 29240131 [T/C] NM_199280 FAM179A EXON Missense_S386P exm183214 2 29240681 [A/G] NM_199280 FAM179A EXON Missense_G407R exm183223 2 29240769 [T/C] NM_199280 FAM179A EXON Missense_L436P exm183225 2 29240783 [A/G] NM_199280 FAM179A EXON Missense_I441V exm183233 2 29245036 [T/C] NM_199280 FAM179A EXON Missense_P458L exm183236 2 29245086 [T/G] NM_199280 FAM179A EXON Missense_D475Y exm183243 2 29246034 [A/G] NM_199280 FAM179A EXON Missense_V532M exm183255 2 29247110 [T/C] NM_199280 FAM179A EXON Missense_R575C exm183257 2 29247177 [A/G] NM_199280 FAM179A EXON Missense_R597K exm183258 2 29247206 [T/C] NM_199280 FAM179A EXON Missense_R607C exm183266 2 29249747 [A/G] NM_199280 FAM179A EXON Missense_A628T exm183278 2 29255907 [T/C] NM_199280 FAM179A EXON Missense_I707T exm183282 2 29256374 [T/C] NM_199280 FAM179A EXON Missense_R724C exm183284 2 29256420 [T/C] NM_199280 FAM179A EXON Missense_I739T exm183285 2 29258364 [T/C] NM_199280 FAM179A EXON Missense_R754C exm183289 2 29258385 [A/G] NM_199280 FAM179A EXON Missense_G761R exm183296 2 29258449 [A/G] NM_199280 FAM179A EXON Missense_R782Q exm183297 2 29258452 [T/G] NM_199280 FAM179A EXON Missense_M783R exm2237593 2 29259465 [A/C] NM_199280 FAM179A EXON Missense_A826E exm183306 2 29259505 [C/G] NM_199280 FAM179A EXON Missense_E839D exm183310 2 29259552 [A/G] NM_199280 FAM179A EXON Missense_N855S exm183318 2 29268243 [T/C] NM_199280 FAM179A EXON Missense_R897C exm183321 2 29268267 [T/C] NM_199280 FAM179A EXON Missense_R905C exm183330 2 29274706 [T/C] NM_199280 FAM179A EXON Missense_A936V exm183331 2 29274720 [A/G] NM_199280 FAM179A EXON Missense_T941A exm183332 2 29274730 [T/G] NM_199280 FAM179A EXON Missense_G944V exm183344 2 29274921 [A/C] NM_199280 FAM179A EXON Missense_K1008Q exm183346 2 29274947 [T/G] NM_199280 FAM179A EXON Missense_F1016L exm-rs882632 2 29280761 [T/C] exm183350 2 29287776 [A/C] NM_001029883 C2orf71 EXON Missense_S1276A exm183356 2 29287841 [A/G] NM_001029883 C2orf71 EXON Missense_P1254L exm183357 2 29287863 [T/C] NM_001029883 C2orf71 EXON Missense_G1247S exm183362 2 29287898 [A/G] NM_001029883 C2orf71 EXON Missense_P1235L exm183369 2 29293523 [T/C] NM_001029883 C2orf71 EXON Missense_R1202Q exm183374 2 29293599 [A/G] NM_001029883 C2orf71 EXON Missense_R1177W exm183384 2 29293733 [T/G] NM_001029883 C2orf71 EXON Missense_E1132A exm183394 2 29293950 [T/G] NM_001029883 C2orf71 EXON Missense_P1060T exm183400 2 29294070 [T/G] NM_001029883 C2orf71 EXON Missense_Q1020K exm183402 2 29294084 [T/G] NM_001029883 C2orf71 EXON Missense_S1015Y exm183403 2 29294091 [G/C] NM_001029883 C2orf71 EXON Missense_P1013A exm183404 2 29294099 [T/C] NM_001029883 C2orf71 EXON Missense_R1010Q exm183414 2 29294253 [T/C] NM_001029883 C2orf71 EXON Missense_A959T exm183415 2 29294264 [T/C] NM_001029883 C2orf71 EXON Missense_R955Q exm183416 2 29294286 [T/G] NM_001029883 C2orf71 EXON Missense_T948P exm183418 2 29294325 [T/C] NM_001029883 C2orf71 EXON Missense_E935K exm183426 2 29294528 [A/G] NM_001029883 C2orf71 EXON Missense_P867L exm183438 2 29294754 [C/G] NM_001029883 C2orf71 EXON Missense_L792V exm183441 2 29294780 [A/G] NM_001029883 C2orf71 EXON Missense_I783T exm183444 2 29294819 [T/C] NM_001029883 C2orf71 EXON Missense_K770R exm183450 2 29294937 [T/C] NM_001029883 C2orf71 EXON Missense_V731I exm183456 2 29295065 [T/C] NM_001029883 C2orf71 EXON Missense_C688Y exm183457 2 29295087 [A/C] NM_001029883 C2orf71 EXON Missense_D681Y exm183461 2 29295160 [A/C] NM_001029883 C2orf71 EXON Missense_R656S exm183464 2 29295177 [A/G] NM_001029883 C2orf71 EXON Missense_P651S exm183467 2 29295186 [T/C] NM_001029883 C2orf71 EXON Missense_A648T exm183470 2 29295284 [A/T] NM_001029883 C2orf71 EXON Missense_V615D exm183472 2 29295293 [A/G] NM_001029883 C2orf71 EXON Missense_L612P exm183475 2 29295389 [A/G] NM_001029883 C2orf71 EXON Missense_T580M exm183478 2 29295444 [T/G] NM_001029883 C2orf71 EXON Missense_Q562K exm183480 2 29295527 [A/C] NM_001029883 C2orf71 EXON Missense_S534I exm2020273 2 29295546 [A/G] NM_001029883 C2orf71 EXON Missense_R528C exm183483 2 29295603 [T/C] NM_001029883 C2orf71 EXON Missense_T509A exm183487 2 29295696 [T/C] NM_001029883 C2orf71 EXON Missense_A478T exm183491 2 29295741 [T/C] NM_001029883 C2orf71 EXON Missense_V463I exm183496 2 29295831 [A/G] NM_001029883 C2orf71 EXON Missense_P433S exm183497 2 29295843 [T/C] NM_001029883 C2orf71 EXON Missense_E429K exm183500 2 29295866 [T/C] NM_001029883 C2orf71 EXON Missense_K421R exm183508 2 29296167 [C/G] NM_001029883 C2orf71 EXON Missense_L321V exm183509 2 29296169 [T/C] NM_001029883 C2orf71 EXON Missense_R320H exm183512 2 29296183 [C/G] NM_001029883 C2orf71 EXON Missense_R315S exm183517 2 29296355 [A/C] NM_001029883 C2orf71 EXON Missense_R258I exm183520 2 29296373 [T/G] NM_001029883 C2orf71 EXON Missense_A252D exm183524 2 29296388 [A/G] NM_001029883 C2orf71 EXON Missense_V247A exm183527 2 29296449 [T/C] NM_001029883 C2orf71 EXON Missense_E227K exm183528 2 29296461 [C/G] NM_001029883 C2orf71 EXON Missense_L223V exm183540 2 29296700 [A/G] NM_001029883 C2orf71 EXON Missense_S143F exm183541 2 29296725 [T/C] NM_001029883 C2orf71 EXON Missense_E135K exm183543 2 29296743 [A/C] NM_001029883 C2orf71 EXON Missense_F129V exm183559 2 29297025 [T/C] NM_001029883 C2orf71 EXON Missense_G35R exm183566 2 29344334 [C/G] NM_024692 CLIP4 EXON Missense_S27C exm2237600 2 29354153 [A/T] NM_024692 CLIP4 EXON Missense_S55T exm183572 2 29354249 [A/G] NM_024692 CLIP4 EXON Missense_I87V exm183598 2 29366627 [T/C] NM_024692 CLIP4 EXON Missense_P234L exm183614 2 29375562 [T/C] NM_024692 CLIP4 EXON Missense_P345S exm183616 2 29375602 [A/C] NM_024692 CLIP4 EXON Missense_N358T exm183626 2 29380087 [T/G] NM_024692 CLIP4 EXON Missense_V425F exm183633 2 29383256 [T/G] NM_024692 CLIP4 EXON Missense_R486L exm2020322 2 29383259 [T/C] NM_024692 CLIP4 EXON Missense_L487P exm2237602 2 29386704 [T/G] NM_024692 CLIP4 EXON Missense_W514C exm183636 2 29386727 [C/G] NM_024692 CLIP4 EXON Missense_P522R exm183641 2 29390386 [A/G] NM_024692 CLIP4 EXON Missense_K568R exm183652 2 29404455 [A/G] NM_024692 CLIP4 EXON Missense_R605H exm183663 2 29404617 [A/G] NM_024692 CLIP4 EXON Missense_R659Q exm183674 2 29416157 [T/G] NM_004304 ALK EXON Missense_P1599H exm183687 2 29416366 [G/C] NM_004304 ALK EXON Missense_D1529E exm183689 2 29416380 [T/C] NM_004304 ALK EXON Missense_K1525E exm183693 2 29416481 [T/C] NM_004304 ALK EXON Missense_K1491R exm183699 2 29416572 [T/C] NM_004304 ALK EXON Missense_I1461V exm183702 2 29416698 [T/C] NM_004304 ALK EXON Missense_E1419K exm183706 2 29416753 [T/G] NM_004304 ALK EXON Missense_E1400D exm183707 2 29416767 [T/C] NM_004304 ALK EXON Missense_A1396T exm183719 2 29436901 [T/C] NM_004304 ALK EXON Missense_R1231Q exm-rs10194138 2 29444656 [A/G] NM_004304 ALK Silent exm183750 2 29445471 [T/C] NM_004304 ALK EXON Missense_G1121D exm183771 2 29448419 [A/G] NM_004304 ALK EXON Missense_P1027L exm183777 2 29449820 [A/G] NM_004304 ALK EXON Missense_T1012M exm183784 2 29450537 [A/G] NM_004304 ALK EXON Synonymous_G939G exm183792 2 29455199 [A/T] NM_004304 ALK EXON Missense_L868Q exm183794 2 29455225 [C/G] NM_004304 ALK EXON Missense_E859D exm183825 2 29474026 [T/C] NM_004304 ALK EXON Missense_E717K exm183836 2 29497967 [A/G] NM_004304 ALK EXON Missense_T680I exm183842 2 29498063 [A/G] NM_004304 ALK EXON Missense_T648I exm183872 2 29543736 [A/G] NM_004304 ALK EXON Missense_V476A exm183877 2 29606603 [C/G] NM_004304 ALK EXON Missense_S426T exm183879 2 29606646 [A/G] NM_004304 ALK EXON Missense_R412C exm183885 2 29754787 [T/A] NM_004304 ALK EXON Missense_K383M exm2020432 2 29754824 [T/C] NM_004304 ALK EXON Missense_A371T exm2269037 2 29779019 [T/C] NM_004304 ALK Silent exm183894 2 29917736 [T/C] NM_004304 ALK EXON Missense_R311H exm183898 2 29917743 [T/C] NM_004304 ALK EXON Missense_A309T exm183900 2 29917793 [T/C] NM_004304 ALK EXON Missense_R292H exm183901 2 29917794 [A/G] NM_004304 ALK EXON Missense_R292C exm183902 2 29917860 [A/G] NM_004304 ALK EXON Missense_F270L exm2255314 2 29921879 [T/C] NM_004304 ALK Silent exm2020439 2 29940455 [T/C] NM_004304 ALK EXON Missense_R259H exm2265309 2 29981286 [A/G] NM_004304 ALK Silent exm183915 2 30142934 [T/C] NM_004304 ALK EXON Missense_V198M exm2237608 2 30143039 [A/C] NM_004304 ALK EXON Missense_V163L exm183936 2 30143407 [A/G] NM_004304 ALK EXON Missense_P40L exm2265130 2 30210861 [A/G] exm183948 2 30381573 [A/G] NM_016061,NM_001127399,NM_001127400,NM_001127401 YPEL5,YPEL5,YPEL5,YPEL5 EXON Missense_N77S,Missense_N77S,Missense_N77S,Missense_N77S exm-rs7579944 2 30445026 [T/C] exm183963 2 30457288 [T/C] NM_030915 LBH EXON Missense_S15L exm183986 2 30748587 [A/G] NM_182551,NM_001002257 LCLAT1,LCLAT1 EXON Missense_N82S,Missense_N44S exm183991 2 30756100 [A/G] NM_182551,NM_001002257 LCLAT1,LCLAT1 EXON Nonsense_W133X,Nonsense_W95X exm183999 2 30791031 [A/G] NM_182551,NM_001002257 LCLAT1,LCLAT1 EXON Missense_R244H,Missense_R206H exm184007 2 30863053 [A/C] NM_182551,NM_001002257 LCLAT1,LCLAT1 EXON Missense_H271Q,Missense_H233Q exm184011 2 30863108 [A/G] NM_182551,NM_001002257 LCLAT1,LCLAT1 EXON Missense_I290V,Missense_I252V exm184012 2 30863123 [A/G] NM_182551,NM_001002257 LCLAT1,LCLAT1 EXON Missense_T295A,Missense_T257A exm184018 2 30863225 [A/G] NM_182551,NM_001002257 LCLAT1,LCLAT1 EXON Missense_G329R,Missense_G291R exm2255316 2 30863279 [T/C] NM_182551,NM_001002257 LCLAT1,LCLAT1 EXON Synonymous_L347L,Synonymous_L309L exm2269038 2 30930165 [T/C] exm184040 2 30957326 [A/G] NM_144575 CAPN13 EXON Missense_I596T exm184044 2 30959371 [C/G] NM_144575 CAPN13 EXON Missense_Q574E exm184053 2 30964792 [G/C] NM_144575 CAPN13 EXON Missense_F506L exm184057 2 30966255 [C/G] NM_144575 CAPN13 EXON Missense_S480T exm184061 2 30966294 [A/G] NM_144575 CAPN13 EXON Missense_A467V exm184063 2 30966345 [A/T] NM_144575 CAPN13 EXON Missense_H450L exm184065 2 30966371 [G/C] NM_144575 CAPN13 EXON Missense_F441L exm184066 2 30966372 [A/C] NM_144575 CAPN13 EXON Missense_F441C exm184067 2 30966387 [A/C] NM_144575 CAPN13 EXON Missense_S436I exm184072 2 30966444 [T/C] NM_144575 CAPN13 EXON Missense_R417Q exm184076 2 30973986 [T/C] NM_144575 CAPN13 EXON Missense_D407N exm184079 2 30974043 [T/C] NM_144575 CAPN13 EXON Missense_V388I exm184084 2 30974063 [G/C] NM_144575 CAPN13 EXON Missense_G381A exm184087 2 30974108 [T/C] NM_144575 CAPN13 EXON Missense_R366Q exm184088 2 30975961 [T/G] NM_144575 CAPN13 EXON Missense_Q349K exm184102 2 30980940 [T/C] NM_144575 CAPN13 EXON Missense_A280T exm2261252 2 30984671 [A/C] NM_144575 CAPN13 Silent exm184104 2 30985977 [A/G] NM_144575 CAPN13 EXON Missense_H249Y exm184105 2 30986003 [A/G] NM_144575 CAPN13 EXON Missense_A240V exm184110 2 30987041 [G/C] NM_144575 CAPN13 EXON Missense_A219G exm184114 2 30987153 [C/G] NM_144575 CAPN13 EXON Missense_D182H exm184118 2 30993230 [T/C] NM_144575 CAPN13 EXON Missense_R158H exm184131 2 30998797 [T/C] NM_144575 CAPN13 EXON Missense_R129Q exm184137 2 31010025 [T/C] NM_144575 CAPN13 EXON Missense_R56H exm184142 2 31010052 [A/G] NM_144575 CAPN13 EXON Missense_I47T exm184149 2 31010118 [T/C] NM_144575 CAPN13 EXON Missense_R25Q exm184152 2 31010132 [T/G] NM_144575 CAPN13 EXON Missense_D20E exm184156 2 31010187 [A/G] NM_144575 CAPN13 EXON Missense_A2V exm2265131 2 31107154 [A/G] exm184174 2 31135184 [T/G] NM_001253826,NM_001253827,NR_045602,NM_024572 GALNT14,GALNT14,GALNT14,GALNT14 EXON Missense_Q474K,Missense_Q449K,Silent,Missense_Q469K exm2237616 2 31147085 [T/C] NM_001253826,NM_001253827,NR_045602,NM_024572 GALNT14,GALNT14,GALNT14,GALNT14 EXON Missense_R432K,Missense_R407K,Silent,Missense_R427K exm184182 2 31147092 [A/G] NM_001253826,NM_001253827,NR_045602,NM_024572 GALNT14,GALNT14,GALNT14,GALNT14 EXON Nonsense_R430X,Nonsense_R405X,Silent,Nonsense_R425X exm184184 2 31147616 [G/C] NM_001253826,NM_001253827,NR_045602,NM_024572 GALNT14,GALNT14,GALNT14,GALNT14 EXON Missense_P414A,Missense_P389A,Silent,Missense_P409A exm184201 2 31155016 [T/C] NM_001253826,NM_001253827,NR_045602,NM_024572 GALNT14,GALNT14,GALNT14,GALNT14 EXON Missense_V331I,Missense_V306I,Silent,Missense_V326I exm184209 2 31167748 [T/C] NM_001253826,NM_001253827,NR_045602,NM_024572 GALNT14,GALNT14,GALNT14,GALNT14 EXON Missense_R273H,Missense_R248H,Silent,Missense_R268H exm184220 2 31178579 [T/C] NM_001253826,NM_001253827,NR_045602,NM_024572 GALNT14,GALNT14,GALNT14,GALNT14 EXON Missense_A192T,Missense_A167T,Silent,Missense_A187T exm2255318 2 31178818 [T/C] NM_001253826,NM_001253827,NR_045602,NM_024572 GALNT14,GALNT14,GALNT14,GALNT14 EXON Synonymous_K169K,Synonymous_K144K,Silent,Synonymous_K164K exm184229 2 31178838 [T/C] NM_001253826,NM_001253827,NR_045602,NM_024572 GALNT14,GALNT14,GALNT14,GALNT14 EXON Missense_D163N,Missense_D138N,Silent,Missense_D158N exm184230 2 31178841 [T/C] NM_001253826,NM_001253827,NR_045602,NM_024572 GALNT14,GALNT14,GALNT14,GALNT14 EXON Missense_D162N,Missense_D137N,Silent,Missense_D157N exm184245 2 31215747 [A/G] NM_001253826,NM_001253827,NR_045602,NM_024572 GALNT14,GALNT14,GALNT14,GALNT14 EXON Silent,Missense_R66W,Silent,Missense_R86W exm184247 2 31215758 [T/C] NM_001253826,NM_001253827,NR_045602,NM_024572 GALNT14,GALNT14,GALNT14,GALNT14 EXON Silent,Missense_R62Q,Silent,Missense_R82Q exm184251 2 31215791 [T/C] NM_001253826,NM_001253827,NR_045602,NM_024572 GALNT14,GALNT14,GALNT14,GALNT14 EXON Silent,Missense_D51G,Silent,Missense_D71G exm184252 2 31215798 [T/C] NM_001253826,NM_001253827,NR_045602,NM_024572 GALNT14,GALNT14,GALNT14,GALNT14 EXON Silent,Missense_V49I,Silent,Missense_V69I exm184265 2 31360928 [C/G] NM_001253826,NR_045602,NM_024572 GALNT14,GALNT14,GALNT14 EXON Missense_V9L,Silent,Missense_V9L exm2261253 2 31380955 [T/C] exm2237617 2 31397570 [A/T] NM_001145122 CAPN14 EXON Missense_M678L exm184273 2 31399482 [T/C] NM_001145122 CAPN14 EXON Missense_G667S exm184278 2 31399988 [T/C] NM_001145122 CAPN14 EXON Missense_V626I exm184280 2 31400624 [T/C] NM_001145122 CAPN14 EXON Missense_M615V exm184282 2 31400632 [T/C] NM_001145122 CAPN14 EXON Missense_H612R exm184287 2 31401419 [G/C] NM_001145122 CAPN14 EXON Missense_I579M exm184293 2 31410653 [T/C] NM_001145122 CAPN14 EXON Missense_D520N exm184296 2 31411184 [A/C] NM_001145122 CAPN14 EXON Missense_K510N exm184301 2 31412209 [A/G] NM_001145122 CAPN14 EXON Missense_P475S exm184311 2 31414830 [A/G] NM_001145122 CAPN14 EXON Missense_L417F exm184312 2 31414844 [T/C] NM_001145122 CAPN14 EXON Missense_R412H exm184313 2 31414851 [T/C] NM_001145122 CAPN14 EXON Missense_R410G exm184315 2 31414919 [A/G] NM_001145122 CAPN14 EXON Missense_P387L exm184324 2 31417290 [T/C] NM_001145122 CAPN14 EXON Missense_N312S exm184326 2 31420143 [T/C] NM_001145122 CAPN14 EXON Missense_V283M exm184328 2 31420160 [T/C] NM_001145122 CAPN14 EXON Missense_R277Q exm184329 2 31420161 [A/G] NM_001145122 CAPN14 EXON Missense_R277W exm184342 2 31428112 [A/G] NM_001145122 CAPN14 EXON Missense_R68C exm184356 2 31457665 [A/G] NM_014600 EHD3 EXON Missense_M60V exm184364 2 31472237 [A/G] NM_014600 EHD3 EXON Synonymous_R135R exm184366 2 31472283 [A/G] NM_014600 EHD3 EXON Missense_V151I exm184371 2 31483377 [T/G] NM_014600 EHD3 EXON Synonymous_G168G exm184379 2 31483550 [T/C] NM_014600 EHD3 EXON Missense_T226M exm184389 2 31483732 [T/C] NM_014600 EHD3 EXON Nonsense_R287X exm184398 2 31484526 [A/G] NM_014600 EHD3 EXON Missense_E343K exm184402 2 31489112 [A/G] NM_014600 EHD3 EXON Missense_D384N exm2020621 2 31489172 [T/C] NM_014600 EHD3 EXON Missense_R404W exm184405 2 31489195 [T/C] NM_014600 EHD3 EXON Synonymous_G411G exm2255320 2 31489195 [T/C] NM_014600 EHD3 EXON Synonymous_G411G exm184412 2 31489270 [A/T] NM_014600 EHD3 EXON Missense_D436E exm184422 2 31489395 [A/G] NM_014600 EHD3 EXON Missense_N478S exm184426 2 31489431 [T/C] NM_014600 EHD3 EXON Missense_I490T exm184438 2 31560521 [T/C] NM_000379 XDH EXON Missense_K1313E exm184440 2 31560538 [T/C] NM_000379 XDH EXON Missense_R1307H exm184443 2 31560571 [T/C] NM_000379 XDH EXON Missense_R1296Q exm184444 2 31560572 [A/G] NM_000379 XDH EXON Missense_R1296W exm184445 2 31560583 [T/C] NM_000379 XDH EXON Missense_K1292R exm184446 2 31560587 [T/C] NM_000379 XDH EXON Missense_V1291M exm184452 2 31562365 [T/A] NM_000379 XDH EXON Missense_Y1255F exm184455 2 31562392 [T/C] NM_000379 XDH EXON Missense_R1246H exm184456 2 31562393 [A/G] NM_000379 XDH EXON Missense_R1246C exm184459 2 31562464 [A/G] NM_000379 XDH EXON Missense_T1222I exm184461 2 31562480 [T/C] NM_000379 XDH EXON Missense_E1217K exm184463 2 31562482 [T/G] NM_000379 XDH EXON Missense_P1216H exm184468 2 31564244 [A/G] NM_000379 XDH EXON Missense_I1179T exm2255321 2 31567579 [T/C] NM_000379 XDH EXON Synonymous_T1125T exm2237621 2 31569660 [T/G] NM_000379 XDH EXON Missense_N1109T exm184481 2 31570393 [C/G] NM_000379 XDH EXON Missense_V1091L exm184500 2 31572610 [T/C] NM_000379 XDH EXON Missense_E971K exm184505 2 31572670 [T/C] NM_000379 XDH EXON Missense_G951R exm2020682 2 31572927 [T/C] NM_000379 XDH EXON Missense_A932T exm184516 2 31572992 [A/G] NM_000379 XDH EXON Missense_T910M exm2020683 2 31573045 [G/C] NM_000379 XDH EXON Missense_I892M exm184535 2 31588846 [A/G] NM_000379 XDH EXON Missense_Y818H exm184537 2 31588857 [A/G] NM_000379 XDH EXON Missense_A814V exm184538 2 31588861 [G/C] NM_000379 XDH EXON Missense_V813L exm184542 2 31588936 [A/T] NM_000379 XDH EXON Missense_I788F exm184543 2 31588938 [T/C] NM_000379 XDH EXON Missense_R787Q exm184544 2 31588939 [A/G] NM_000379 XDH EXON Missense_R787W exm184560 2 31590916 [A/T] NM_000379 XDH EXON Missense_I703K exm184561 2 31590917 [T/C] NM_000379 XDH EXON Missense_I703V exm184570 2 31593265 [T/C] NM_000379 XDH EXON Missense_I646V exm184571 2 31593289 [T/C] NM_000379 XDH EXON Missense_A638T exm184573 2 31593305 [A/C] NM_000379 XDH EXON Missense_F632L exm2275576 2 31593316 [A/C] NM_000379 XDH EXON Missense_V629F exm184574 2 31593333 [A/G] NM_000379 XDH EXON Missense_T623I exm184577 2 31595130 [T/C] NM_000379 XDH EXON Missense_R607Q exm184578 2 31595131 [A/G] NM_000379 XDH EXON Missense_R607W exm184580 2 31595176 [T/C] NM_000379 XDH EXON Missense_V592M exm184582 2 31595199 [T/G] NM_000379 XDH EXON Missense_D584A exm184584 2 31595224 [A/G] NM_000379 XDH EXON Missense_R576W exm184588 2 31596738 [G/C] NM_000379 XDH Silent exm184590 2 31596756 [T/C] NM_000379 XDH EXON Missense_D557N exm184592 2 31596762 [A/G] NM_000379 XDH EXON Missense_P555S exm184598 2 31598246 [A/G] NM_000379 XDH EXON Synonymous_D534D exm184599 2 31598251 [T/C] NM_000379 XDH EXON Missense_E533K exm184606 2 31598325 [T/C] NM_000379 XDH EXON Missense_R508Q exm184614 2 31599989 [T/C] NM_000379 XDH EXON Missense_A453T exm2255322 2 31600017 [T/C] NM_000379 XDH EXON Synonymous_K443K exm184618 2 31600072 [G/C] NM_000379 XDH EXON Missense_S425C exm184626 2 31602791 [T/A] NM_000379 XDH EXON Missense_K395M exm184628 2 31602841 [A/G] NM_000379 XDH EXON Synonymous_G378G exm2020725 2 31604589 [T/C] NM_000379 XDH EXON Missense_V348I exm184633 2 31605868 [A/G] NM_000379 XDH EXON Missense_A346V exm184634 2 31605901 [T/C] NM_000379 XDH EXON Missense_R335H exm184636 2 31605946 [C/G] NM_000379 XDH EXON Missense_P320R exm184652 2 31609369 [A/G] NM_000379 XDH EXON Missense_T235M exm184654 2 31609376 [A/G] NM_000379 XDH EXON Missense_R233C exm184655 2 31609402 [T/C] NM_000379 XDH EXON Missense_R224Q exm184656 2 31609403 [A/G] NM_000379 XDH EXON Missense_R224W exm184662 2 31610711 [A/G] NM_000379 XDH EXON Missense_P206L exm184668 2 31611143 [T/C] NM_000379 XDH EXON Missense_G172R exm184671 2 31620547 [T/C] NM_000379 XDH EXON Missense_R161Q exm184679 2 31621475 [T/C] NM_000379 XDH EXON Missense_E133K exm184682 2 31621544 [T/C] NM_000379 XDH EXON Missense_G110S exm184688 2 31625919 [A/C] NM_000379 XDH EXON Missense_K64N exm184698 2 31637500 [A/C] NM_000379 XDH EXON Missense_N11K exm2265132 2 31695655 [A/G] exm184700 2 31751297 [T/G] NM_000348 SRD5A2 EXON Missense_L245I exm184703 2 31754383 [T/C] NM_000348 SRD5A2 EXON Missense_T231A exm184706 2 31754481 [A/G] NM_000348 SRD5A2 EXON Missense_S198L exm184712 2 31758677 [A/G] NM_000348 SRD5A2 EXON Missense_A147V exm184718 2 31758781 [G/C] NM_000348 SRD5A2 EXON Missense_F112L exm184720 2 31758787 [T/G] NM_000348 SRD5A2 EXON Nonsense_Y110X exm184722 2 31805700 [A/C] NM_000348 SRD5A2 EXON Missense_I90M exm184781 2 32289031 [T/C] NM_199436,NM_014946 SPAST,SPAST EXON Missense_S44L,Missense_S44L exm184782 2 32289034 [A/C] NM_199436,NM_014946 SPAST,SPAST EXON Missense_P45Q,Missense_P45Q exm184791 2 32312629 [A/G] NM_199436,NM_014946 SPAST,SPAST EXON Missense_V162I,Missense_V162I exm184792 2 32312644 [G/C] NM_199436,NM_014946 SPAST,SPAST EXON Missense_Q167E,Missense_Q167E exm184803 2 32339736 [A/C] NM_199436,NM_014946 SPAST,SPAST EXON Missense_P206T,Missense_P238T exm184804 2 32339767 [A/G] NM_199436,NM_014946 SPAST,SPAST EXON Missense_R216H,Missense_R248H exm184805 2 32339782 [T/C] NM_199436,NM_014946 SPAST,SPAST EXON Missense_M221T,Missense_M253T exm184809 2 32339889 [T/C] NM_199436,NM_014946 SPAST,SPAST EXON Missense_H257Y,Missense_H289Y exm184830 2 32370014 [A/G] NM_199436,NM_014946 SPAST,SPAST EXON Missense_D510G,Missense_D542G exm2265133 2 32395315 [A/G] NM_017964,NM_001193514,NM_001193513,NM_001193515 SLC30A6,SLC30A6,SLC30A6,SLC30A6 Silent,Silent,Silent,Silent exm184854 2 32396411 [A/G] NM_017964,NM_001193514,NM_001193513,NM_001193515 SLC30A6,SLC30A6,SLC30A6,SLC30A6 EXON Missense_R20Q,Missense_R20Q,Missense_R20Q,Silent exm184862 2 32400426 [T/C] NM_017964,NM_001193514,NM_001193513,NM_001193515 SLC30A6,SLC30A6,SLC30A6,SLC30A6 EXON Missense_F72L,Missense_F72L,Missense_F72L,Missense_F43L exm184890 2 32422855 [A/G] NM_017964,NM_001193514,NM_001193513,NM_001193515 SLC30A6,SLC30A6,SLC30A6,SLC30A6 EXON Missense_A209T,Missense_A209T,Missense_A249T,Missense_A180T exm2255325 2 32422884 [T/C] NM_017964,NM_001193514,NM_001193513,NM_001193515 SLC30A6,SLC30A6,SLC30A6,SLC30A6 EXON Synonymous_L218L,Synonymous_L218L,Synonymous_L258L,Synonymous_L189L exm184902 2 32431994 [A/C] NM_017964,NM_001193514,NM_001193513,NM_001193515 SLC30A6,SLC30A6,SLC30A6,SLC30A6 EXON Missense_I270L,Missense_I270L,Missense_I310L,Missense_I241L exm184914 2 32445477 [A/G] NM_017964,NM_001193514,NM_001193513,NM_001193515 SLC30A6,SLC30A6,SLC30A6,SLC30A6 EXON Missense_M361V,Missense_M338V,Missense_M401V,Missense_M332V exm184920 2 32445640 [A/G] NM_017964,NM_001193514,NM_001193513,NM_001193515 SLC30A6,SLC30A6,SLC30A6,SLC30A6 EXON Missense_H415R,Missense_H392R,Missense_H455R,Missense_H386R exm184921 2 32445649 [T/C] NM_017964,NM_001193514,NM_001193513,NM_001193515 SLC30A6,SLC30A6,SLC30A6,SLC30A6 EXON Missense_T418I,Missense_T395I,Missense_T458I,Missense_T389I exm184922 2 32445663 [A/G] NM_017964,NM_001193514,NM_001193513,NM_001193515 SLC30A6,SLC30A6,SLC30A6,SLC30A6 EXON Missense_M423V,Missense_M400V,Missense_M463V,Missense_M394V exm184926 2 32449584 [A/C] NM_021209,NM_001199139,NM_001199138 NLRC4,NLRC4,NLRC4 EXON Missense_S1051A,Missense_S1051A,Missense_S1051A exm184928 2 32449672 [C/G] NM_021209,NM_001199139,NM_001199138 NLRC4,NLRC4,NLRC4 EXON Missense_S1021R,Missense_S1021R,Missense_S1021R exm184933 2 32449799 [A/G] NM_021209,NM_001199139,NM_001199138 NLRC4,NLRC4,NLRC4 EXON Missense_P979L,Missense_P979L,Missense_P979L exm184934 2 32449832 [A/C] NM_021209,NM_001199139,NM_001199138 NLRC4,NLRC4,NLRC4 EXON Missense_C968F,Missense_C968F,Missense_C968F exm184949 2 32460623 [T/C] NM_021209,NM_001199139,NM_001199138 NLRC4,NLRC4,NLRC4 EXON Missense_R916H,Missense_R916H,Missense_R916H exm2275577 2 32460624 [A/G] NM_021209,NM_001199139,NM_001199138 NLRC4,NLRC4,NLRC4 EXON Missense_R916C,Missense_R916C,Missense_R916C exm184957 2 32463342 [A/G] NM_021209,NM_001199139,NM_001199138 NLRC4,NLRC4,NLRC4 EXON Missense_V833A,Missense_V833A,Missense_V833A exm184959 2 32463365 [A/C] NM_021209,NM_001199139,NM_001199138 NLRC4,NLRC4,NLRC4 EXON Missense_R825S,Missense_R825S,Missense_R825S exm184961 2 32474677 [T/C] NM_021209,NM_001199139,NM_001199138 NLRC4,NLRC4,NLRC4 EXON Missense_G792R,Missense_G792R,Missense_G792R exm2020886 2 32474756 [A/G] NM_021209,NM_001199139,NM_001199138 NLRC4,NLRC4,NLRC4 EXON Synonymous_H765H,Synonymous_H765H,Synonymous_H765H exm184970 2 32475063 [T/A] NM_021209,NM_001199139,NM_001199138 NLRC4,NLRC4,NLRC4 EXON Missense_M663K,Missense_M663K,Missense_M663K exm184973 2 32475134 [T/C] NM_021209,NM_001199139,NM_001199138 NLRC4,NLRC4,NLRC4 EXON Missense_X639W,Missense_X639W,Missense_X639W exm2020895 2 32475369 [A/G] NM_021209,NM_001199139,NM_001199138 NLRC4,NLRC4,NLRC4 EXON Missense_F561S,Missense_F561S,Missense_F561S exm184985 2 32475405 [T/C] NM_021209,NM_001199139,NM_001199138 NLRC4,NLRC4,NLRC4 EXON Missense_R549H,Missense_R549H,Missense_R549H exm2020896 2 32475491 [A/G] NM_021209,NM_001199139,NM_001199138 NLRC4,NLRC4,NLRC4 EXON Synonymous_F520F,Synonymous_F520F,Synonymous_F520F exm185004 2 32476005 [A/G] NM_021209,NM_001199139,NM_001199138 NLRC4,NLRC4,NLRC4 EXON Missense_P349L,Missense_P349L,Missense_P349L exm185010 2 32476301 [T/C] NM_021209,NM_001199139,NM_001199138 NLRC4,NLRC4,NLRC4 EXON Nonsense_W250X,Nonsense_W250X,Nonsense_W250X exm185020 2 32476455 [T/C] NM_021209,NM_001199139,NM_001199138 NLRC4,NLRC4,NLRC4 EXON Missense_G199D,Missense_G199D,Missense_G199D exm185024 2 32476500 [A/G] NM_021209,NM_001199139,NM_001199138 NLRC4,NLRC4,NLRC4 EXON Missense_T184I,Missense_T184I,Missense_T184I exm185025 2 32476635 [T/C] NM_021209,NM_001199139,NM_001199138 NLRC4,NLRC4,NLRC4 EXON Missense_R139Q,Missense_R139Q,Missense_R139Q exm185027 2 32477509 [A/G] NM_021209,NM_001199139,NM_001199138 NLRC4,NLRC4,NLRC4 EXON Missense_I120T,Missense_I120T,Missense_I120T exm185028 2 32477542 [A/G] NM_021209,NM_001199139,NM_001199138 NLRC4,NLRC4,NLRC4 EXON Missense_S109F,Missense_S109F,Missense_S109F exm2237629 2 32477551 [T/G] NM_021209,NM_001199139,NM_001199138 NLRC4,NLRC4,NLRC4 EXON Missense_X106S,Missense_X106S,Missense_X106S exm2261254 2 32495471 [A/C] exm185043 2 32515609 [T/G] NM_032312 YIPF4 EXON Missense_I46S exm185049 2 32517384 [C/G] NM_032312 YIPF4 EXON Missense_F124L exm185055 2 32526515 [T/C] NM_032312 YIPF4 EXON Missense_P183L exm185060 2 32530639 [A/G] NM_032312 YIPF4 EXON Missense_I227V exm185076 2 32613882 [A/G] NM_016252 BIRC6 EXON Missense_N237S exm185080 2 32626332 [T/C] NM_016252 BIRC6 EXON Missense_F379S exm185095 2 32640038 [A/C] NM_016252 BIRC6 EXON Missense_H560P exm185099 2 32640173 [A/G] NM_016252 BIRC6 EXON Missense_Q605R exm185116 2 32640782 [A/G] NM_016252 BIRC6 EXON Missense_Q808R exm185124 2 32641040 [T/C] NM_016252 BIRC6 EXON Missense_T894M exm2020952 2 32654266 [A/C] NM_016252 BIRC6 EXON Missense_E975D exm185151 2 32661189 [A/G] NM_016252 BIRC6 EXON Missense_S1190G exm185158 2 32664660 [T/G] NM_016252 BIRC6 EXON Missense_G1239V exm185165 2 32667182 [G/C] NM_016252 BIRC6 EXON Missense_V1332L exm185166 2 32667216 [T/A] NM_016252 BIRC6 EXON Missense_Q1343L exm185184 2 32678878 [T/A] NM_016252 BIRC6 EXON Missense_N1541Y exm185214 2 32689829 [A/G] NM_016252 BIRC6 EXON Missense_V1732I exm185215 2 32689838 [C/G] NM_016252 BIRC6 EXON Missense_P1735A exm185216 2 32689842 [T/C] NM_016252 BIRC6 EXON Missense_P1736L exm185225 2 32692685 [A/G] NM_016252 BIRC6 EXON Missense_I1817V exm185249 2 32693617 [T/G] NM_016252 BIRC6 EXON Nonsense_E1965X exm185261 2 32694652 [T/C] NM_016252 BIRC6 EXON Missense_S2106L exm185286 2 32706513 [T/G] NM_016252 BIRC6 EXON Missense_V2512F exm185294 2 32707650 [A/G] NM_016252 BIRC6 EXON Missense_A2566T exm185305 2 32713706 [A/T] NM_016252 BIRC6 EXON Missense_T2674S exm185324 2 32724715 [C/G] NM_016252 BIRC6 EXON Missense_S2857C exm185329 2 32724847 [T/C] NM_016252 BIRC6 EXON Missense_I2901T exm185330 2 32724850 [A/G] NM_016252 BIRC6 EXON Missense_R2902H exm185331 2 32724901 [T/C] NM_016252 BIRC6 EXON Missense_M2919T exm185346 2 32730095 [A/G] NM_016252 BIRC6 EXON Missense_T3175A exm185358 2 32733313 [T/G] NM_016252 BIRC6 EXON Missense_V3323L exm2021067 2 32738094 [A/G] NM_016252 BIRC6 EXON Missense_T3481A exm185388 2 32740353 [T/C] NM_016252 BIRC6 EXON Missense_A3622V exm185398 2 32740520 [A/G] NM_016252 BIRC6 EXON Missense_I3678V exm185406 2 32740695 [A/C] NM_016252 BIRC6 EXON Missense_T3736N exm185410 2 32740755 [A/G] NM_016252 BIRC6 EXON Missense_R3756H exm185412 2 32743364 [T/G] NM_016252 BIRC6 EXON Missense_L3798R exm2021079 2 32743370 [T/C] NM_016252 BIRC6 EXON Missense_T3800I exm185473 2 32768467 [A/T] NM_016252 BIRC6 EXON Missense_S4151T exm185477 2 32770737 [A/G] NM_016252 BIRC6 EXON Missense_N4207S exm2021103 2 32770913 [A/G] NM_016252 BIRC6 EXON Missense_V4266M exm185498 2 32800362 [T/A] NM_016252 BIRC6 EXON Missense_E4428D exm185504 2 32819010 [A/G] NM_016252 BIRC6 EXON Missense_V4462I exm185542 2 32842850 [A/G] NM_016252 BIRC6 EXON Missense_D4818G exm185546 2 32842905 [T/G] NM_016252 BIRC6 EXON Missense_E4836D exm185556 2 32855677 [T/C] NM_017735,NM_001193509 TTC27,TTC27 EXON Missense_T59I,Missense_T9I exm185562 2 32859017 [T/C] NM_017735,NM_001193509 TTC27,TTC27 EXON Missense_V114A,Missense_V64A exm185569 2 32865407 [T/C] NM_017735,NM_001193509 TTC27,TTC27 EXON Missense_S156L,Missense_S106L exm185570 2 32865434 [A/G] NM_017735,NM_001193509 TTC27,TTC27 EXON Missense_R165H,Missense_R115H exm185576 2 32875274 [T/C] NM_017735,NM_001193509 TTC27,TTC27 EXON Missense_T205I,Missense_T155I exm185580 2 32889409 [A/G] NM_017735,NM_001193509 TTC27,TTC27 EXON Missense_R227Q,Missense_R177Q exm185587 2 32891729 [T/A] NM_017735,NM_001193509 TTC27,TTC27 EXON Missense_Q278L,Missense_Q228L exm185590 2 32891788 [A/C] NM_017735,NM_001193509 TTC27,TTC27 EXON Missense_N298H,Missense_N248H exm185592 2 32891833 [A/G] NM_017735,NM_001193509 TTC27,TTC27 EXON Missense_K313E,Missense_K263E exm2021149 2 32903966 [C/G] NM_017735,NM_001193509 TTC27,TTC27 EXON Missense_V366L,Missense_V316L exm185607 2 32958916 [A/G] NM_017735,NM_001193509 TTC27,TTC27 EXON Missense_D419N,Missense_D369N exm185610 2 32958982 [T/G] NM_017735,NM_001193509 TTC27,TTC27 EXON Missense_A441S,Missense_A391S exm185614 2 32961762 [A/G] NM_017735,NM_001193509 TTC27,TTC27 EXON Missense_R444H,Missense_R394H exm185621 2 32961858 [A/G] NM_017735,NM_001193509 TTC27,TTC27 EXON Missense_Y476C,Missense_Y426C exm185627 2 32983399 [T/C] NM_017735,NM_001193509 TTC27,TTC27 EXON Missense_T498M,Missense_T448M exm185629 2 32983410 [T/C] NM_017735,NM_001193509 TTC27,TTC27 EXON Missense_Y502H,Missense_Y452H exm185632 2 32983458 [T/G] NM_017735,NM_001193509 TTC27,TTC27 EXON Missense_A518S,Missense_A468S exm185633 2 32983476 [T/C] NM_017735,NM_001193509 TTC27,TTC27 EXON Missense_Y524H,Missense_Y474H exm185634 2 32983479 [T/C] NM_017735,NM_001193509 TTC27,TTC27 EXON Missense_R525C,Missense_R475C exm185635 2 32983480 [A/G] NM_017735,NM_001193509 TTC27,TTC27 EXON Missense_R525H,Missense_R475H exm185643 2 32983560 [T/C] NM_017735,NM_001193509 TTC27,TTC27 EXON Missense_R552C,Missense_R502C exm185653 2 33012052 [A/G] NM_017735,NM_001193509 TTC27,TTC27 EXON Missense_V612I,Missense_V562I exm185657 2 33012142 [A/G] NM_017735,NM_001193509 TTC27,TTC27 EXON Missense_V642I,Missense_V592I exm185661 2 33012173 [A/T] NM_017735,NM_001193509 TTC27,TTC27 EXON Missense_Y652F,Missense_Y602F exm185670 2 33036113 [A/C] NM_017735,NM_001193509 TTC27,TTC27 EXON Missense_A674E,Missense_A624E exm2273778 2 33036263 [A/G] NM_017735,NM_001193509 TTC27,TTC27 EXON Missense_S724N,Missense_S674N exm185678 2 33037578 [A/G] NM_017735,NM_001193509 TTC27,TTC27 EXON Missense_Q735R,Missense_Q685R exm185682 2 33037680 [A/G] NM_017735,NM_001193509 TTC27,TTC27 EXON Missense_H769R,Missense_H719R exm185686 2 33042596 [A/G] NM_017735,NM_001193509 TTC27,TTC27 EXON Missense_N794S,Missense_N744S exm185693 2 33045980 [T/G] NM_017735,NM_001193509 TTC27,TTC27 EXON Missense_S836I,Missense_S786I exm185705 2 33172816 [A/G] NM_206943 LTBP1 EXON Missense_K142R exm185706 2 33172827 [A/G] NM_206943 LTBP1 EXON Missense_E146K exm2263937 2 33233302 [A/C] NM_206943 LTBP1 Silent exm185724 2 33246146 [A/G] NM_206943 LTBP1 EXON Missense_E246K exm185730 2 33246234 [T/C] NM_206943 LTBP1 EXON Missense_P275L exm185742 2 33335818 [T/C] NM_206943 LTBP1 EXON Synonymous_L345L exm-rs6714546 2 33361425 [A/G] NM_206943,NM_001166265,NM_001166266,NM_000627,NM_001166264 LTBP1,LTBP1,LTBP1,LTBP1,LTBP1 Silent,Silent,Silent,Silent,Silent exm-rs6751657 2 33405151 [T/C] NM_206943,NM_001166265,NM_001166266,NM_000627,NM_001166264 LTBP1,LTBP1,LTBP1,LTBP1,LTBP1 Silent,Silent,Silent,Silent,Silent exm185759 2 33412036 [A/G] NM_206943,NM_001166265,NM_001166266,NM_000627,NM_001166264 LTBP1,LTBP1,LTBP1,LTBP1,LTBP1 EXON Missense_V439M,Missense_V113M,Missense_V113M,Missense_V113M,Missense_V113M exm185761 2 33412076 [T/C] NM_206943,NM_001166265,NM_001166266,NM_000627,NM_001166264 LTBP1,LTBP1,LTBP1,LTBP1,LTBP1 EXON Missense_A452V,Missense_A126V,Missense_A126V,Missense_A126V,Missense_A126V exm185787 2 33413908 [T/C] NM_206943,NM_001166265,NM_001166266,NM_000627,NM_001166264 LTBP1,LTBP1,LTBP1,LTBP1,LTBP1 EXON Missense_I564T,Missense_I238T,Missense_I238T,Missense_I238T,Missense_I238T exm185792 2 33447197 [A/G] NM_206943,NM_001166265,NM_001166266,NM_000627,NM_001166264 LTBP1,LTBP1,LTBP1,LTBP1,LTBP1 EXON Missense_V619I,Missense_V293I,Missense_V293I,Missense_V293I,Missense_V293I exm185795 2 33468745 [C/G] NM_206943,NM_001166265,NM_001166266,NM_000627,NM_001166264 LTBP1,LTBP1,LTBP1,LTBP1,LTBP1 EXON Missense_Q631H,Missense_Q305H,Missense_Q305H,Missense_Q305H,Missense_Q305H exm185799 2 33468819 [A/T] NM_206943,NM_001166265,NM_001166266,NM_000627,NM_001166264 LTBP1,LTBP1,LTBP1,LTBP1,LTBP1 EXON Missense_F656Y,Missense_F330Y,Missense_F330Y,Missense_F330Y,Missense_F330Y exm185805 2 33477800 [A/G] NM_206943,NM_001166265,NM_001166266,NM_000627,NM_001166264 LTBP1,LTBP1,LTBP1,LTBP1,LTBP1 EXON Missense_G686R,Missense_G360R,Missense_G360R,Missense_G360R,Missense_G360R exm185812 2 33482431 [A/G] NM_206943,NM_001166265,NM_001166266,NM_000627,NM_001166264 LTBP1,LTBP1,LTBP1,LTBP1,LTBP1 EXON Missense_V750I,Silent,Silent,Missense_V424I,Missense_V424I exm185824 2 33484655 [T/G] NM_206943,NM_001166265,NM_001166266,NM_000627,NM_001166264 LTBP1,LTBP1,LTBP1,LTBP1,LTBP1 EXON Missense_V799G,Missense_V420G,Missense_V420G,Missense_V473G,Missense_V473G exm185827 2 33484669 [T/C] NM_206943,NM_001166265,NM_001166266,NM_000627,NM_001166264 LTBP1,LTBP1,LTBP1,LTBP1,LTBP1 EXON Missense_P804S,Missense_P425S,Missense_P425S,Missense_P478S,Missense_P478S exm185834 2 33487873 [A/C] NM_206943,NM_001166265,NM_001166266,NM_000627,NM_001166264 LTBP1,LTBP1,LTBP1,LTBP1,LTBP1 EXON Missense_H835N,Missense_H456N,Missense_H456N,Missense_H509N,Missense_H509N exm185844 2 33498802 [A/G] NM_206943,NM_001166265,NM_001166266,NM_000627,NM_001166264 LTBP1,LTBP1,LTBP1,LTBP1,LTBP1 EXON Missense_I899M,Missense_I520M,Missense_I520M,Missense_I573M,Missense_I573M exm185850 2 33500128 [T/C] NM_206943,NM_001166265,NM_001166266,NM_000627,NM_001166264 LTBP1,LTBP1,LTBP1,LTBP1,LTBP1 EXON Missense_M947T,Missense_M568T,Missense_M568T,Missense_M621T,Missense_M621T exm2021203 2 33505123 [A/G] NM_206943,NM_001166265,NM_001166266,NM_000627,NM_001166264 LTBP1,LTBP1,LTBP1,LTBP1,LTBP1 EXON Missense_N1004D,Missense_N625D,Missense_N625D,Missense_N678D,Missense_N678D exm2275578 2 33505123 [A/C] NM_206943,NM_001166265,NM_001166266,NM_000627,NM_001166264 LTBP1,LTBP1,LTBP1,LTBP1,LTBP1 EXON Missense_N1004H,Missense_N625H,Missense_N625H,Missense_N678H,Missense_N678H exm185860 2 33505139 [A/C] NM_206943,NM_001166265,NM_001166266,NM_000627,NM_001166264 LTBP1,LTBP1,LTBP1,LTBP1,LTBP1 EXON Missense_P1009Q,Missense_P630Q,Missense_P630Q,Missense_P683Q,Missense_P683Q exm185862 2 33505175 [T/A] NM_206943,NM_001166265,NM_001166266,NM_000627,NM_001166264 LTBP1,LTBP1,LTBP1,LTBP1,LTBP1 EXON Missense_Q1021L,Missense_Q642L,Missense_Q642L,Missense_Q695L,Missense_Q695L exm185863 2 33505176 [T/G] NM_206943,NM_001166265,NM_001166266,NM_000627,NM_001166264 LTBP1,LTBP1,LTBP1,LTBP1,LTBP1 EXON Missense_Q1021H,Missense_Q642H,Missense_Q642H,Missense_Q695H,Missense_Q695H exm185864 2 33505180 [A/G] NM_206943,NM_001166265,NM_001166266,NM_000627,NM_001166264 LTBP1,LTBP1,LTBP1,LTBP1,LTBP1 EXON Missense_V1023I,Missense_V644I,Missense_V644I,Missense_V697I,Missense_V697I exm185866 2 33505202 [A/G] NM_206943,NM_001166265,NM_001166266,NM_000627,NM_001166264 LTBP1,LTBP1,LTBP1,LTBP1,LTBP1 EXON Missense_R1030Q,Missense_R651Q,Missense_R651Q,Missense_R704Q,Missense_R704Q exm185871 2 33518244 [A/G] NM_206943,NM_001166265,NM_001166266,NM_000627,NM_001166264 LTBP1,LTBP1,LTBP1,LTBP1,LTBP1 EXON Missense_E1044K,Missense_E665K,Missense_E665K,Missense_E718K,Missense_E718K exm185885 2 33525574 [A/G] NM_206943,NM_001166265,NM_001166266,NM_000627,NM_001166264 LTBP1,LTBP1,LTBP1,LTBP1,LTBP1 EXON Missense_E1098K,Missense_E719K,Missense_E719K,Missense_E772K,Missense_E772K exm185889 2 33525632 [A/G] NM_206943,NM_001166265,NM_001166266,NM_000627,NM_001166264 LTBP1,LTBP1,LTBP1,LTBP1,LTBP1 EXON Missense_Q1117R,Missense_Q738R,Missense_Q738R,Missense_Q791R,Missense_Q791R exm-rs41464348 2 33527299 [A/G] NM_206943,NM_001166265,NM_001166266,NM_000627,NM_001166264 LTBP1,LTBP1,LTBP1,LTBP1,LTBP1 Silent,Silent,Silent,Silent,Silent exm185901 2 33540309 [A/G] NM_206943,NM_001166265,NM_001166266,NM_000627,NM_001166264 LTBP1,LTBP1,LTBP1,LTBP1,LTBP1 EXON Missense_I1235V,Missense_I856V,Missense_I856V,Missense_I909V,Missense_I909V exm185906 2 33567971 [T/C] NM_206943,NM_001166265,NM_001166266,NM_000627,NM_001166264 LTBP1,LTBP1,LTBP1,LTBP1,LTBP1 EXON Missense_S1266F,Missense_S887F,Silent,Missense_S940F,Silent exm185907 2 33567976 [T/C] NM_206943,NM_001166265,NM_001166266,NM_000627,NM_001166264 LTBP1,LTBP1,LTBP1,LTBP1,LTBP1 EXON Missense_R1268C,Missense_R889C,Silent,Missense_R942C,Silent exm185910 2 33568012 [A/G] NM_206943,NM_001166265,NM_001166266,NM_000627,NM_001166264 LTBP1,LTBP1,LTBP1,LTBP1,LTBP1 EXON Missense_D1280N,Missense_D901N,Silent,Missense_D954N,Silent exm185922 2 33572566 [A/G] NM_206943,NM_001166265,NM_001166266,NM_000627,NM_001166264 LTBP1,LTBP1,LTBP1,LTBP1,LTBP1 EXON Missense_R1330Q,Missense_R951Q,Missense_R909Q,Missense_R1004Q,Missense_R962Q exm185943 2 33588519 [T/C] NM_206943,NM_001166265,NM_001166266,NM_000627,NM_001166264 LTBP1,LTBP1,LTBP1,LTBP1,LTBP1 EXON Missense_R1445W,Missense_R1066W,Missense_R1024W,Missense_R1119W,Missense_R1077W exm185963 2 33614354 [A/T] NM_206943,NM_001166265,NM_001166266,NM_000627,NM_001166264 LTBP1,LTBP1,LTBP1,LTBP1,LTBP1 EXON Missense_D1605E,Missense_D1226E,Missense_D1184E,Missense_D1279E,Missense_D1237E exm185975 2 33623460 [T/C] NM_206943,NM_001166265,NM_001166266,NM_000627,NM_001166264 LTBP1,LTBP1,LTBP1,LTBP1,LTBP1 EXON Missense_R1672W,Missense_R1293W,Missense_R1251W,Missense_R1346W,Missense_R1304W exm185979 2 33623566 [T/C] NM_206943,NM_001166265,NM_001166266,NM_000627,NM_001166264 LTBP1,LTBP1,LTBP1,LTBP1,LTBP1 EXON Missense_P1707L,Missense_P1328L,Missense_P1286L,Missense_P1381L,Missense_P1339L exm-rs13385731 2 33701890 [T/C] NM_170672,NM_001139488 RASGRP3,RASGRP3 Silent,Silent exm185990 2 33740227 [A/C] NM_170672,NM_001139488,NM_015376 RASGRP3,RASGRP3,RASGRP3 EXON Missense_K8N,Missense_K8N,Missense_K8N exm185991 2 33741609 [A/G] NM_170672,NM_001139488,NM_015376 RASGRP3,RASGRP3,RASGRP3 EXON Missense_D24G,Missense_D24G,Missense_D24G exm185996 2 33741704 [C/G] NM_170672,NM_001139488,NM_015376 RASGRP3,RASGRP3,RASGRP3 EXON Missense_L56V,Missense_L56V,Missense_L56V exm186000 2 33745697 [T/C] NM_170672,NM_001139488,NM_015376 RASGRP3,RASGRP3,RASGRP3 EXON Missense_V105A,Missense_V105A,Missense_V105A exm186014 2 33749595 [A/C] NM_170672,NM_001139488,NM_015376 RASGRP3,RASGRP3,RASGRP3 EXON Missense_L263I,Missense_L263I,Missense_L263I exm186018 2 33752240 [A/G] NM_170672,NM_001139488,NM_015376 RASGRP3,RASGRP3,RASGRP3 EXON Missense_G282S,Missense_G282S,Missense_G282S exm186020 2 33752261 [A/G] NM_170672,NM_001139488,NM_015376 RASGRP3,RASGRP3,RASGRP3 EXON Missense_K289E,Missense_K289E,Missense_K289E exm186026 2 33752435 [T/C] NM_170672,NM_001139488,NM_015376 RASGRP3,RASGRP3,RASGRP3 EXON Missense_S347P,Missense_S347P,Missense_S347P exm2265135 2 33757785 [A/G] NM_170672,NM_001139488,NM_015376 RASGRP3,RASGRP3,RASGRP3 Silent,Silent,Silent exm186031 2 33764176 [A/G] NM_170672,NM_001139488,NM_015376 RASGRP3,RASGRP3,RASGRP3 EXON Missense_T393A,Missense_T393A,Missense_T392A exm2021260 2 33764243 [T/C] NM_170672,NM_001139488,NM_015376 RASGRP3,RASGRP3,RASGRP3 EXON Missense_T415M,Missense_T415M,Missense_T414M exm186054 2 33783392 [T/C] NM_170672,NM_001139488,NM_015376 RASGRP3,RASGRP3,RASGRP3 EXON Missense_S565L,Missense_S565L,Missense_S564L exm186074 2 33809851 [T/C] NM_015475 FAM98A EXON Missense_T517A exm186088 2 33810016 [T/C] NM_015475 FAM98A EXON Missense_G462S exm186092 2 33810082 [T/C] NM_015475 FAM98A EXON Missense_G440S exm186094 2 33810161 [T/G] NM_015475 FAM98A EXON Missense_H413Q exm186105 2 33810393 [T/C] NM_015475 FAM98A EXON Missense_R336Q exm186107 2 33810439 [A/G] NM_015475 FAM98A EXON Missense_P321S exm186113 2 33810638 [T/C] NM_015475 FAM98A EXON Missense_S283G exm186124 2 33812318 [A/G] NM_015475 FAM98A EXON Missense_P198S exm2021288 2 33813509 [T/C] NM_015475 FAM98A EXON Missense_G139S exm186146 2 33820669 [A/G] NM_015475 FAM98A EXON Missense_S30F exm2269262 2 34154162 [T/C] exm2255331 2 34200798 [T/C] exm-rs9308945 2 34284852 [A/G] exm-rs6733379 2 34480075 [T/G] exm2265136 2 34843930 [A/G] exm2265310 2 35190105 [A/G] exm2255333 2 35406207 [A/C] exm-rs4670110 2 35416212 [A/C] exm-rs6750486 2 35526918 [T/C] exm2265311 2 35952305 [A/G] exm2255337 2 36478634 [A/G] exm186185 2 36583725 [A/G] NM_016441 CRIM1 EXON Missense_N97S exm186203 2 36668586 [C/G] NM_016441 CRIM1 EXON Missense_V231L exm186206 2 36668623 [A/C] NM_016441 CRIM1 EXON Missense_D243A exm-rs7562790 2 36673555 [T/G] NM_016441 CRIM1 Silent exm-rs848534 2 36690242 [T/C] NM_016441 CRIM1 Silent exm186219 2 36691707 [C/G] NM_016441 CRIM1 EXON Missense_F300L exm186223 2 36704089 [A/G] NM_016441 CRIM1 EXON Missense_R350Q exm186228 2 36704127 [A/G] NM_016441 CRIM1 EXON Missense_V363I exm186232 2 36704169 [A/G] NM_016441 CRIM1 EXON Missense_E377K exm186234 2 36706682 [A/G] NM_016441 CRIM1 EXON Missense_N406S exm186236 2 36706700 [A/C] NM_016441 CRIM1 EXON Missense_H412P exm186247 2 36706834 [A/G] NM_016441 CRIM1 EXON Missense_E457K exm186256 2 36737128 [A/G] NM_016441 CRIM1 EXON Missense_E502K exm186259 2 36737179 [A/G] NM_016441 CRIM1 EXON Missense_G519S exm186261 2 36737222 [A/G] NM_016441 CRIM1 EXON Missense_R533H exm186281 2 36744583 [A/C] NM_016441 CRIM1 EXON Missense_T702P exm186288 2 36749369 [A/G] NM_016441 CRIM1 EXON Missense_V781I exm186289 2 36749390 [A/T] NM_016441 CRIM1 EXON Missense_S788T exm186295 2 36764632 [T/C] NM_016441 CRIM1 EXON Missense_P856S exm186298 2 36764668 [A/G] NM_016441 CRIM1 EXON Missense_S868G exm2255338 2 36771309 [A/G] NM_016441 CRIM1 Silent exm186301 2 36771553 [T/G] NM_016441 CRIM1 EXON Missense_I886M exm186307 2 36774132 [T/G] NM_016441 CRIM1 EXON Missense_G918C exm186309 2 36774199 [T/C] NM_016441 CRIM1 EXON Missense_I940T exm186312 2 36774247 [T/C] NM_016441 CRIM1 EXON Missense_A956V exm2021452 2 36775719 [A/G] NM_016441 CRIM1 EXON Missense_R996G exm186327 2 36775815 [T/C] NM_016441 CRIM1 EXON Nonsense_Q1028X exm186340 2 36782886 [A/G] NM_001042548,NM_005102 FEZ2,FEZ2 EXON Missense_R356C,Missense_R329C exm186349 2 36785616 [C/G] NM_001042548,NM_005102 FEZ2,FEZ2 EXON Missense_P342R,Missense_P315R exm186363 2 36805945 [T/A] NM_001042548,NM_005102 FEZ2,FEZ2 EXON Missense_K233M,Missense_K233M exm186364 2 36805978 [T/C] NM_001042548,NM_005102 FEZ2,FEZ2 EXON Missense_N222S,Missense_N222S exm186366 2 36808447 [A/C] NM_001042548,NM_005102 FEZ2,FEZ2 EXON Missense_G207V,Missense_G207V exm186378 2 36810586 [T/C] NM_001042548,NM_005102 FEZ2,FEZ2 EXON Synonymous_T134T,Synonymous_T134T exm2255339 2 36810586 [T/C] NM_001042548,NM_005102 FEZ2,FEZ2 EXON Synonymous_T134T,Synonymous_T134T exm186382 2 36818090 [T/C] NM_001042548,NM_005102 FEZ2,FEZ2 EXON Missense_T111A,Missense_T111A exm186392 2 36825137 [A/G] NM_001042548,NM_005102 FEZ2,FEZ2 EXON Missense_P50L,Missense_P50L exm186415 2 36970296 [T/C] NM_053276,NM_001177971,NM_001177972,NM_001177970,NM_001177969 VIT,VIT,VIT,VIT,VIT EXON Missense_F58L,Missense_F58L,Missense_F58L,Missense_F58L,Missense_F58L exm186416 2 36970307 [A/T] NM_053276,NM_001177971,NM_001177972,NM_001177970,NM_001177969 VIT,VIT,VIT,VIT,VIT EXON Missense_K61N,Missense_K61N,Missense_K61N,Missense_K61N,Missense_K61N exm186419 2 36970341 [T/G] NM_053276,NM_001177971,NM_001177972,NM_001177970,NM_001177969 VIT,VIT,VIT,VIT,VIT EXON Missense_V73F,Missense_V73F,Missense_V73F,Missense_V73F,Missense_V73F exm186423 2 36970386 [A/G] NM_053276,NM_001177971,NM_001177972,NM_001177970,NM_001177969 VIT,VIT,VIT,VIT,VIT EXON Missense_A88T,Missense_A88T,Missense_A88T,Missense_A88T,Missense_A88T exm186429 2 36982191 [A/G] NM_053276,NM_001177971,NM_001177972,NM_001177970,NM_001177969 VIT,VIT,VIT,VIT,VIT EXON Missense_V135I,Missense_V135I,Missense_V135I,Missense_V135I,Missense_V135I exm2255341 2 36986239 [A/G] NM_053276,NM_001177971,NM_001177972,NM_001177970,NM_001177969 VIT,VIT,VIT,VIT,VIT EXON Silent,Silent,Synonymous_T179T,Silent,Silent exm186433 2 36986261 [A/G] NM_053276,NM_001177971,NM_001177972,NM_001177970,NM_001177969 VIT,VIT,VIT,VIT,VIT EXON Silent,Silent,Missense_G187R,Silent,Silent exm2021502 2 36994395 [A/C] NM_053276,NM_001177971,NM_001177970,NM_001177969 VIT,VIT,VIT,VIT EXON Missense_P216T,Missense_P216T,Missense_P216T,Missense_P216T exm2261260 2 36996398 [A/G] NM_053276,NM_001177971,NM_001177970,NM_001177969 VIT,VIT,VIT,VIT Silent,Silent,Silent,Silent exm186447 2 37000956 [C/G] NM_053276,NM_001177971,NM_001177970,NM_001177969 VIT,VIT,VIT,VIT EXON Nonsense_Y234X,Nonsense_Y234X,Nonsense_Y234X,Nonsense_Y234X exm186454 2 37002196 [T/C] NM_053276,NM_001177971,NM_001177970,NM_001177969 VIT,VIT,VIT,VIT EXON Missense_A263V,Silent,Missense_A263V,Missense_A263V exm186455 2 37002210 [G/C] NM_053276,NM_001177971,NM_001177970,NM_001177969 VIT,VIT,VIT,VIT EXON Missense_G268R,Silent,Missense_D268H,Missense_G268R exm186463 2 37010513 [A/G] NM_053276,NM_001177971,NM_001177970,NM_001177969 VIT,VIT,VIT,VIT EXON Missense_Q293R,Missense_Q256R,Silent,Missense_Q278R exm186494 2 37032796 [T/A] NM_053276,NM_001177971,NM_001177970,NM_001177969 VIT,VIT,VIT,VIT EXON Missense_F460I,Missense_F423I,Missense_F424I,Missense_F445I exm2255342 2 37035809 [T/C] NM_053276,NM_001177971,NM_001177970,NM_001177969 VIT,VIT,VIT,VIT EXON Synonymous_T528T,Synonymous_T491T,Synonymous_T492T,Synonymous_T513T exm186509 2 37035855 [A/G] NM_053276,NM_001177971,NM_001177970,NM_001177969 VIT,VIT,VIT,VIT EXON Missense_D544N,Missense_D507N,Missense_D508N,Missense_D529N exm186510 2 37035864 [A/G] NM_053276,NM_001177971,NM_001177970,NM_001177969 VIT,VIT,VIT,VIT EXON Missense_T547A,Missense_T510A,Missense_T511A,Missense_T532A exm186514 2 37035894 [A/G] NM_053276,NM_001177971,NM_001177970,NM_001177969 VIT,VIT,VIT,VIT EXON Missense_E557K,Missense_E520K,Missense_E521K,Missense_E542K exm186520 2 37035934 [A/G] NM_053276,NM_001177971,NM_001177970,NM_001177969 VIT,VIT,VIT,VIT EXON Missense_K570R,Missense_K533R,Missense_K534R,Missense_K555R exm186521 2 37035945 [A/C] NM_053276,NM_001177971,NM_001177970,NM_001177969 VIT,VIT,VIT,VIT EXON Missense_L574I,Missense_L537I,Missense_L538I,Missense_L559I exm186522 2 37035963 [T/G] NM_053276,NM_001177971,NM_001177970,NM_001177969 VIT,VIT,VIT,VIT EXON Missense_V580L,Missense_V543L,Missense_V544L,Missense_V565L exm186533 2 37036099 [A/G] NM_053276,NM_001177971,NM_001177970,NM_001177969 VIT,VIT,VIT,VIT EXON Missense_R625Q,Missense_R588Q,Missense_R589Q,Missense_R610Q exm186538 2 37041341 [T/C] NM_053276,NM_001177971,NM_001177970,NM_001177969 VIT,VIT,VIT,VIT EXON Missense_A640V,Missense_A603V,Missense_A604V,Missense_A625V exm186544 2 37041439 [T/C] NM_053276,NM_001177971,NM_001177970,NM_001177969 VIT,VIT,VIT,VIT EXON Missense_H673Y,Missense_H636Y,Missense_H637Y,Missense_H658Y exm186546 2 37041466 [A/G] NM_053276,NM_001177971,NM_001177970,NM_001177969 VIT,VIT,VIT,VIT EXON Missense_N682D,Missense_N645D,Missense_N646D,Missense_N667D exm186569 2 37078233 [T/G] NM_003162 STRN EXON Missense_Q666K exm186574 2 37082414 [T/C] NM_003162 STRN EXON Missense_S640N exm186581 2 37085047 [T/G] NM_003162 STRN EXON Missense_N597H exm186584 2 37085130 [A/G] NM_003162 STRN EXON Missense_T569M exm186587 2 37088298 [T/C] NM_003162 STRN EXON Missense_N549S exm186593 2 37096709 [A/G] NM_003162 STRN EXON Missense_A496V exm186597 2 37105041 [A/G] NM_003162 STRN EXON Missense_T439I exm186604 2 37111123 [A/G] NM_003162 STRN EXON Missense_P380S exm186611 2 37121049 [A/G] NM_003162 STRN EXON Missense_T308I exm186615 2 37121154 [A/G] NM_003162 STRN EXON Missense_P273L exm186624 2 37129796 [T/C] NM_003162 STRN EXON Missense_E197G exm186632 2 37132722 [G/C] NM_003162 STRN EXON Missense_S151T exm186668 2 37215860 [A/G] NM_019024 HEATR5B EXON Missense_I1947T exm186669 2 37215874 [T/G] NM_019024 HEATR5B EXON Missense_R1942S exm186674 2 37215953 [T/C] NM_019024 HEATR5B EXON Missense_N1916S exm186687 2 37227797 [G/C] NM_019024 HEATR5B EXON Missense_G1826A exm2021619 2 37232858 [T/G] NM_019024 HEATR5B EXON Missense_I1608L exm186712 2 37232879 [A/C] NM_019024 HEATR5B EXON Missense_S1601A exm186725 2 37234305 [T/C] NM_019024 HEATR5B EXON Missense_I1555M exm186737 2 37235927 [T/A] NM_019024 HEATR5B EXON Missense_N1450I exm186742 2 37241120 [T/C] NM_019024 HEATR5B EXON Missense_N1383S exm186749 2 37247865 [T/C] NM_019024 HEATR5B EXON Missense_K1323R exm-rs17020136 2 37248015 [T/C] NM_019024 HEATR5B Silent exm186763 2 37255917 [A/G] NM_019024 HEATR5B EXON Missense_H1170Y exm186767 2 37255995 [T/C] NM_019024 HEATR5B EXON Missense_I1144V exm186771 2 37256063 [T/C] NM_019024 HEATR5B EXON Missense_N1121S exm186784 2 37265081 [T/C] NM_019024 HEATR5B EXON Missense_A1045T exm186805 2 37280697 [T/C] NM_019024 HEATR5B EXON Missense_R818H exm186815 2 37284622 [A/T] NM_019024 HEATR5B EXON Synonymous_G687G exm186818 2 37285699 [G/C] NM_019024 HEATR5B EXON Missense_P652A exm186825 2 37287766 [T/C] NM_019024 HEATR5B EXON Missense_T603A exm186845 2 37293012 [T/C] NM_019024 HEATR5B EXON Missense_A407T exm186848 2 37295825 [T/C] NM_019024 HEATR5B EXON Synonymous_V392V exm2021698 2 37295830 [T/C] NM_019024 HEATR5B EXON Missense_A391T exm2021700 2 37296064 [A/C] NM_019024 HEATR5B EXON Missense_V313F exm186862 2 37297435 [T/C] NM_019024 HEATR5B EXON Missense_G289S exm186866 2 37302691 [A/C] NM_019024 HEATR5B EXON Missense_I178M exm186877 2 37306288 [T/C] NM_019024 HEATR5B EXON Missense_T105A exm186884 2 37306411 [A/G] NM_019024 HEATR5B EXON Missense_P64S exm186893 2 37315583 [A/G] NM_174931 GPATCH11 EXON Missense_Q16R exm2021717 2 37319139 [A/G] NM_174931 GPATCH11 EXON Missense_M133V exm186898 2 37319156 [A/C] NM_174931 GPATCH11 EXON Missense_E138D exm186901 2 37319321 [A/C] NM_174931 GPATCH11 EXON Missense_N151H exm186902 2 37319362 [A/C] NM_174931 GPATCH11 EXON Missense_R164S exm186903 2 37319369 [T/C] NM_174931 GPATCH11 EXON Nonsense_R167X exm186905 2 37321308 [A/T] NM_174931 GPATCH11 EXON Missense_D204E exm186945 2 37353472 [T/C] NM_001135652,NM_001135651,NM_002759 EIF2AK2,EIF2AK2,EIF2AK2 EXON Silent,Missense_G290R,Missense_G290R exm186957 2 37365670 [C/G] NM_001135652,NM_001135651,NM_002759 EIF2AK2,EIF2AK2,EIF2AK2 EXON Missense_S192C,Missense_S192C,Missense_S192C exm2021736 2 37365724 [G/C] NM_001135652,NM_001135651,NM_002759 EIF2AK2,EIF2AK2,EIF2AK2 EXON Missense_S174C,Missense_S174C,Missense_S174C exm186975 2 37395103 [T/C] NM_001032377 SULT6B1 EXON Missense_K258R exm186981 2 37398582 [A/C] NM_001032377 SULT6B1 EXON Missense_R221L exm2021759 2 37398622 [A/C] NM_001032377 SULT6B1 EXON Missense_S208A exm187002 2 37402356 [C/G] NM_001032377 SULT6B1 EXON Missense_R143S exm187004 2 37406643 [T/C] NM_001032377 SULT6B1 EXON Missense_G125S exm187006 2 37406645 [T/C] NM_001032377 SULT6B1 EXON Missense_Y124C exm187008 2 37406661 [G/C] NM_001032377 SULT6B1 EXON Missense_P119A exm187010 2 37406711 [T/C] NM_001032377 SULT6B1 EXON Missense_R102Q exm187012 2 37406716 [T/C] NM_001032377 SULT6B1 EXON Missense_I100M exm187020 2 37414548 [T/C] NM_001032377 SULT6B1 EXON Missense_K50E exm187022 2 37414586 [T/A] NM_001032377 SULT6B1 EXON Missense_V37D exm187023 2 37415603 [T/C] NM_001032377 SULT6B1 EXON Missense_A23T exm187049 2 37430140 [T/G] NR_037879,NR_037880,NM_005760 LOC100505876,LOC100505876,CEBPZ EXON Silent,Silent,Missense_K966Q exm2237675 2 37439091 [T/C] NM_005760 CEBPZ EXON Missense_D899N exm187069 2 37443294 [T/C] NM_005760 CEBPZ EXON Missense_R790H exm187081 2 37449529 [T/A] NM_005760 CEBPZ EXON Missense_L687M exm187083 2 37449577 [T/C] NM_005760 CEBPZ EXON Missense_V671I exm187091 2 37450350 [A/G] NM_005760 CEBPZ EXON Missense_A615V exm187100 2 37450501 [T/C] NM_005760 CEBPZ EXON Missense_M565V exm2255344 2 37454286 [A/G] NM_005760 CEBPZ Silent exm187102 2 37454690 [T/C] NM_005760 CEBPZ EXON Missense_Y549C exm187108 2 37454811 [T/C] NM_005760 CEBPZ EXON Missense_D509N exm187117 2 37454981 [T/C] NM_005760 CEBPZ EXON Missense_H452R exm187125 2 37455191 [A/G] NM_005760 CEBPZ EXON Missense_A382V exm187138 2 37455492 [A/G] NM_005760 CEBPZ EXON Missense_C282R exm187140 2 37455566 [T/C] NM_005760 CEBPZ EXON Missense_D257G exm187141 2 37455579 [T/G] NM_005760 CEBPZ EXON Missense_L253I exm187143 2 37455624 [T/C] NM_005760 CEBPZ EXON Missense_I238V exm187146 2 37455683 [T/C] NM_005760 CEBPZ EXON Missense_N218S exm187152 2 37455763 [T/G] NM_005760 CEBPZ EXON Missense_E191D exm187159 2 37455922 [G/C] NM_005760 CEBPZ EXON Missense_K138N exm187161 2 37456011 [C/G] NM_005760 CEBPZ EXON Missense_E109Q exm187163 2 37456032 [T/C] NM_005760 CEBPZ EXON Missense_V102I exm187174 2 37458668 [A/G] NM_005760 CEBPZ EXON Missense_P15S exm187184 2 37458862 [T/C] NM_144736,NM_001083946 NDUFAF7,NDUFAF7 EXON Missense_L5P,Missense_L5P exm187185 2 37458871 [A/G] NM_144736,NM_001083946 NDUFAF7,NDUFAF7 EXON Missense_G8D,Missense_G8D exm187193 2 37459282 [C/G] NM_144736,NM_001083946 NDUFAF7,NDUFAF7 EXON Missense_S30T,Missense_S30T exm187195 2 37459308 [C/G] NM_144736,NM_001083946 NDUFAF7,NDUFAF7 EXON Missense_P39A,Missense_P39A exm187203 2 37459388 [C/G] NM_144736,NM_001083946 NDUFAF7,NDUFAF7 EXON Missense_E65D,Missense_E65D exm2021857 2 37468845 [A/G] NM_144736,NM_001083946 NDUFAF7,NDUFAF7 EXON Missense_R178Q,Silent exm2237680 2 37469792 [C/G] NM_144736,NM_001083946 NDUFAF7,NDUFAF7 EXON Missense_L213V,Silent exm2021864 2 37471114 [A/C] NM_144736,NM_001083946 NDUFAF7,NDUFAF7 EXON Missense_Q264K,Missense_Q166K exm2273780 2 37474622 [A/T] NM_144736,NM_001083946 NDUFAF7,NDUFAF7 EXON Missense_H320Q,Missense_H222Q exm187253 2 37475421 [A/T] NM_144736,NM_001083946 NDUFAF7,NDUFAF7 EXON Nonsense_Y418X,Nonsense_Y320X exm187254 2 37475422 [T/C] NM_144736,NM_001083946 NDUFAF7,NDUFAF7 EXON Nonsense_Q419X,Nonsense_Q321X exm187262 2 37475489 [A/G] NM_144736,NM_001083946 NDUFAF7,NDUFAF7 EXON Missense_Q441R,Missense_Q343R exm187267 2 37480347 [T/A] NM_005813 PRKD3 EXON Missense_N882K exm187304 2 37501813 [T/C] NM_005813 PRKD3 EXON Missense_I468V exm187306 2 37502951 [T/G] NM_005813 PRKD3 EXON Missense_L445I exm187315 2 37506908 [T/C] NM_005813 PRKD3 EXON Missense_E385K exm187318 2 37506926 [T/C] NM_005813 PRKD3 EXON Missense_D379N exm187324 2 37509690 [T/C] NM_005813 PRKD3 EXON Missense_N328S exm187327 2 37513340 [T/C] NM_005813 PRKD3 EXON Missense_R297H exm187328 2 37513364 [T/C] NM_005813 PRKD3 EXON Missense_K289R exm2021915 2 37513408 [A/C] NM_005813 PRKD3 EXON Missense_F274L exm187337 2 37516543 [A/G] NM_005813 PRKD3 EXON Missense_P225S exm187339 2 37516585 [A/G] NM_005813 PRKD3 EXON Missense_R211C exm2255345 2 37518105 [A/G] NM_005813 PRKD3 EXON Synonymous_H155H exm187352 2 37543392 [T/C] NM_005813 PRKD3 EXON Missense_I92M exm187355 2 37543444 [A/G] NM_005813 PRKD3 EXON Missense_I75T exm187359 2 37543544 [T/C] NM_005813 PRKD3 EXON Missense_N42D exm187360 2 37543555 [A/G] NM_005813 PRKD3 EXON Missense_A38V exm187361 2 37543567 [A/G] NM_005813 PRKD3 EXON Missense_T34M exm2255346 2 37543593 [A/G] NM_005813 PRKD3 EXON Synonymous_A25A exm187364 2 37543593 [A/G] NM_005813 PRKD3 EXON Synonymous_A25A exm-rs6734118 2 37559355 [A/C] exm187375 2 37579971 [T/C] NM_012413 QPCT EXON Missense_R54W exm187379 2 37580074 [A/G] NM_012413 QPCT EXON Missense_R88H exm187381 2 37586736 [A/G] NM_012413 QPCT EXON Missense_R94Q exm187389 2 37586852 [T/C] NM_012413 QPCT EXON Nonsense_R133X exm187394 2 37586907 [A/G] NM_012413 QPCT EXON Missense_N151S exm187396 2 37586934 [A/C] NM_012413 QPCT EXON Nonsense_S160X exm187413 2 37594498 [C/G] NM_012413 QPCT EXON Missense_A224P exm187419 2 37594523 [T/C] NM_012413 QPCT EXON Missense_A232V exm187435 2 37599857 [T/G] NM_012413 QPCT EXON Missense_F325V exm2237691 2 37599863 [A/G] NM_012413 QPCT EXON Missense_E327K exm187439 2 37599942 [T/C] NM_012413 QPCT EXON Missense_V353A exm187440 2 37599963 [A/C] NM_012413 QPCT EXON Missense_H360P exm2261261 2 37603801 [A/G] exm2255347 2 37742142 [A/G] exm-rs4352210 2 37750980 [A/G] exm187446 2 37873058 [A/C] NM_001270436,NM_006449,NM_001270437,NM_001270438 CDC42EP3,CDC42EP3,CDC42EP3,CDC42EP3 EXON Missense_S225A,Missense_S225A,Missense_S225A,Missense_S225A exm187448 2 37873087 [T/C] NM_001270436,NM_006449,NM_001270437,NM_001270438 CDC42EP3,CDC42EP3,CDC42EP3,CDC42EP3 EXON Missense_K215R,Missense_K215R,Missense_K215R,Missense_K215R exm187451 2 37873103 [T/G] NM_001270436,NM_006449,NM_001270437,NM_001270438 CDC42EP3,CDC42EP3,CDC42EP3,CDC42EP3 EXON Missense_P210T,Missense_P210T,Missense_P210T,Missense_P210T exm187453 2 37873127 [T/C] NM_001270436,NM_006449,NM_001270437,NM_001270438 CDC42EP3,CDC42EP3,CDC42EP3,CDC42EP3 EXON Missense_E202K,Missense_E202K,Missense_E202K,Missense_E202K exm187458 2 37873206 [A/G] NM_001270436,NM_006449,NM_001270437,NM_001270438 CDC42EP3,CDC42EP3,CDC42EP3,CDC42EP3 EXON Synonymous_S175S,Synonymous_S175S,Synonymous_S175S,Synonymous_S175S exm187465 2 37873286 [A/T] NM_001270436,NM_006449,NM_001270437,NM_001270438 CDC42EP3,CDC42EP3,CDC42EP3,CDC42EP3 EXON Missense_M149L,Missense_M149L,Missense_M149L,Missense_M149L exm187467 2 37873295 [T/C] NM_001270436,NM_006449,NM_001270437,NM_001270438 CDC42EP3,CDC42EP3,CDC42EP3,CDC42EP3 EXON Missense_E146K,Missense_E146K,Missense_E146K,Missense_E146K exm187472 2 37873361 [A/C] NM_001270436,NM_006449,NM_001270437,NM_001270438 CDC42EP3,CDC42EP3,CDC42EP3,CDC42EP3 EXON Missense_S124A,Missense_S124A,Missense_S124A,Missense_S124A exm-rs4670766 2 37940542 [T/C] exm-rs17511102 2 37960613 [A/T] exm-rs12615742 2 37995727 [T/C] exm-rs4670779 2 38044344 [T/C] exm2237694 2 38156764 [A/T] NM_001170791,NM_001170792 RMDN2,RMDN2 EXON Missense_I115K,Missense_I115K exm187493 2 38156765 [A/G] NM_001170791,NM_001170792 RMDN2,RMDN2 EXON Missense_I115M,Missense_I115M exm187505 2 38178404 [T/C] NM_001170791,NM_001170792,NM_001170793,NM_144713 RMDN2,RMDN2,RMDN2,RMDN2 EXON Silent,Silent,Silent,Nonsense_R16X exm187517 2 38178675 [G/C] NM_001170791,NM_001170792,NM_001170793,NM_144713 RMDN2,RMDN2,RMDN2,RMDN2 EXON Silent,Silent,Silent,Missense_G106A exm187520 2 38178707 [T/G] NM_001170791,NM_001170792,NM_001170793,NM_144713 RMDN2,RMDN2,RMDN2,RMDN2 EXON Silent,Silent,Silent,Missense_C117G exm187521 2 38178716 [T/C] NM_001170791,NM_001170792,NM_001170793,NM_144713 RMDN2,RMDN2,RMDN2,RMDN2 EXON Silent,Silent,Silent,Missense_F120L exm2273781 2 38178864 [A/C] NM_001170791,NM_001170792,NM_001170793,NM_144713 RMDN2,RMDN2,RMDN2,RMDN2 EXON Silent,Silent,Silent,Missense_T169N exm187532 2 38178938 [A/T] NM_001170791,NM_001170792,NM_001170793,NM_144713 RMDN2,RMDN2,RMDN2,RMDN2 EXON Silent,Silent,Silent,Missense_T194S exm187534 2 38178965 [A/G] NM_001170791,NM_001170792,NM_001170793,NM_144713 RMDN2,RMDN2,RMDN2,RMDN2 EXON Silent,Silent,Silent,Missense_I203V exm2273782 2 38179034 [A/G] NM_001170791,NM_001170792,NM_001170793,NM_144713 RMDN2,RMDN2,RMDN2,RMDN2 EXON Silent,Silent,Silent,Missense_D226N exm187537 2 38179056 [A/G] NM_001170791,NM_001170792,NM_001170793,NM_144713 RMDN2,RMDN2,RMDN2,RMDN2 EXON Silent,Silent,Silent,Missense_N233S exm187538 2 38179057 [A/T] NM_001170791,NM_001170792,NM_001170793,NM_144713 RMDN2,RMDN2,RMDN2,RMDN2 EXON Silent,Silent,Silent,Missense_N233K exm187539 2 38179058 [T/G] NM_001170791,NM_001170792,NM_001170793,NM_144713 RMDN2,RMDN2,RMDN2,RMDN2 EXON Silent,Silent,Silent,Missense_D234Y exm187544 2 38179110 [T/C] NM_001170791,NM_001170792,NM_001170793,NM_144713 RMDN2,RMDN2,RMDN2,RMDN2 EXON Silent,Silent,Silent,Missense_P251L exm187552 2 38179179 [T/C] NM_001170791,NM_001170792,NM_001170793,NM_144713 RMDN2,RMDN2,RMDN2,RMDN2 EXON Silent,Silent,Silent,Missense_T274I exm187559 2 38179253 [A/G] NM_001170791,NM_001170792,NM_001170793,NM_144713 RMDN2,RMDN2,RMDN2,RMDN2 EXON Silent,Silent,Silent,Missense_E299K exm187561 2 38179297 [G/C] NM_001170791,NM_001170792,NM_001170793,NM_144713 RMDN2,RMDN2,RMDN2,RMDN2 EXON Silent,Silent,Silent,Missense_L313F exm187562 2 38179345 [A/G] NM_001170791,NM_001170792,NM_001170793,NM_144713 RMDN2,RMDN2,RMDN2,RMDN2 Silent,Silent,Silent,Silent exm2021989 2 38201217 [A/G] NM_001170791,NM_001170792,NM_001170793,NM_144713 RMDN2,RMDN2,RMDN2,RMDN2 EXON Missense_S163G,Missense_S163G,Missense_S18G,Missense_S341G exm187568 2 38201237 [A/G] NM_001170791,NM_001170792,NM_001170793,NM_144713 RMDN2,RMDN2,RMDN2,RMDN2 EXON Synonymous_A169A,Synonymous_A169A,Synonymous_A24A,Synonymous_A347A exm2255348 2 38201237 [A/G] NM_001170791,NM_001170792,NM_001170793,NM_144713 RMDN2,RMDN2,RMDN2,RMDN2 EXON Synonymous_A169A,Synonymous_A169A,Synonymous_A24A,Synonymous_A347A exm187569 2 38201247 [T/C] NM_001170791,NM_001170792,NM_001170793,NM_144713 RMDN2,RMDN2,RMDN2,RMDN2 EXON Missense_R173C,Missense_R173C,Missense_R28C,Missense_R351C exm187573 2 38201298 [T/C] NM_001170791,NM_001170792,NM_001170793,NM_144713 RMDN2,RMDN2,RMDN2,RMDN2 EXON Missense_R190C,Missense_R190C,Missense_R45C,Missense_R368C exm187574 2 38201299 [A/G] NM_001170791,NM_001170792,NM_001170793,NM_144713 RMDN2,RMDN2,RMDN2,RMDN2 EXON Missense_R190H,Missense_R190H,Missense_R45H,Missense_R368H exm187579 2 38201340 [T/C] NM_001170791,NM_001170792,NM_001170793,NM_144713 RMDN2,RMDN2,RMDN2,RMDN2 EXON Missense_R204C,Missense_R204C,Missense_R59C,Missense_R382C exm187580 2 38201341 [A/G] NM_001170791,NM_001170792,NM_001170793,NM_144713 RMDN2,RMDN2,RMDN2,RMDN2 EXON Missense_R204H,Missense_R204H,Missense_R59H,Missense_R382H exm187582 2 38201357 [A/G] NM_001170791,NM_001170792,NM_001170793,NM_144713 RMDN2,RMDN2,RMDN2,RMDN2 EXON Synonymous_K209K,Synonymous_K209K,Synonymous_K64K,Synonymous_K387K exm187585 2 38202382 [T/C] NM_001170791,NM_001170792,NM_001170793,NM_144713 RMDN2,RMDN2,RMDN2,RMDN2 EXON Nonsense_R219X,Nonsense_R219X,Nonsense_R74X,Nonsense_R397X exm187596 2 38218372 [A/G] NM_001170791,NM_001170792,NM_001170793,NM_144713 RMDN2,RMDN2,RMDN2,RMDN2 EXON Missense_D293N,Missense_D293N,Missense_D148N,Missense_D471N exm187598 2 38218381 [A/G] NM_001170791,NM_001170792,NM_001170793,NM_144713 RMDN2,RMDN2,RMDN2,RMDN2 EXON Missense_I296V,Missense_I296V,Missense_I151V,Missense_I474V exm187603 2 38224579 [T/G] NM_001170791,NM_001170792,NM_001170793,NM_144713 RMDN2,RMDN2,RMDN2,RMDN2 EXON Missense_I322M,Missense_I322M,Missense_I177M,Missense_I500M exm187604 2 38224596 [T/C] NM_001170791,NM_001170792,NM_001170793,NM_144713 RMDN2,RMDN2,RMDN2,RMDN2 EXON Missense_A328V,Missense_A328V,Missense_A183V,Missense_A506V exm187606 2 38224611 [A/G] NM_001170791,NM_001170792,NM_001170793,NM_144713 RMDN2,RMDN2,RMDN2,RMDN2 EXON Missense_K333R,Missense_K333R,Missense_K188R,Missense_K511R exm187608 2 38224647 [A/G] NM_001170791,NM_001170792,NM_001170793,NM_144713 RMDN2,RMDN2,RMDN2,RMDN2 EXON Missense_N345S,Missense_N345S,Missense_N200S,Missense_N523S exm-rs6741148 2 38277832 [T/G] NM_144713 RMDN2 Silent exm187644 2 38298139 [T/C] NM_000104 CYP1B1 EXON Missense_N453S exm187649 2 38298169 [C/G] NM_000104 CYP1B1 EXON Missense_A443G exm187652 2 38298203 [C/G] NM_000104 CYP1B1 EXON Missense_V432L exm187658 2 38298338 [T/C] NM_000104 CYP1B1 EXON Missense_E387K exm187659 2 38298394 [T/C] NM_000104 CYP1B1 EXON Missense_R368H exm2255349 2 38301803 [C/G] NM_000104 CYP1B1 EXON Synonymous_V243V exm187704 2 38302177 [A/C] NM_000104 CYP1B1 EXON Missense_A119S exm187709 2 38302361 [T/C] NM_000104 CYP1B1 EXON Nonsense_W57X exm187711 2 38302390 [G/C] NM_000104 CYP1B1 EXON Missense_R48G exm187716 2 38302497 [A/G] NM_000104 CYP1B1 EXON Missense_P12L exm2265314 2 38350007 [A/G] exm2263890 2 38432325 [A/C] exm-rs4670838 2 38482924 [T/G] exm187737 2 38525489 [T/C] NM_001135673,NM_022374,NR_024191 ATL2,ATL2,ATL2 EXON Missense_T477A,Missense_T477A,Silent exm2255351 2 38525607 [T/C] NM_001135673,NM_022374,NR_024191 ATL2,ATL2,ATL2 EXON Synonymous_G437G,Synonymous_G437G,Silent exm187746 2 38525660 [C/G] NM_001135673,NM_022374,NR_024191 ATL2,ATL2,ATL2 EXON Missense_D420H,Missense_D420H,Silent exm187747 2 38526420 [A/G] NM_001135673,NM_022374,NR_024191 ATL2,ATL2,ATL2 EXON Missense_T393I,Missense_T393I,Silent exm187755 2 38536558 [A/G] NM_001135673,NM_022374,NR_024191 ATL2,ATL2,ATL2 EXON Missense_S345F,Missense_S345F,Silent exm2255352 2 38536626 [T/G] NM_001135673,NM_022374,NR_024191 ATL2,ATL2,ATL2 EXON Synonymous_R322R,Synonymous_R322R,Silent exm187756 2 38536626 [T/G] NM_001135673,NM_022374,NR_024191 ATL2,ATL2,ATL2 EXON Synonymous_R322R,Synonymous_R322R,Silent exm187757 2 38536627 [T/C] NM_001135673,NM_022374,NR_024191 ATL2,ATL2,ATL2 EXON Missense_R322Q,Missense_R322Q,Silent exm187759 2 38537481 [T/C] NM_001135673,NM_022374,NR_024191 ATL2,ATL2,ATL2 EXON Missense_T305A,Missense_T305A,Silent exm187763 2 38537579 [T/C] NM_001135673,NM_022374,NR_024191 ATL2,ATL2,ATL2 EXON Missense_N272S,Missense_N272S,Silent exm187771 2 38542428 [C/G] NM_001135673,NM_022374,NR_024191 ATL2,ATL2,ATL2 EXON Missense_Q218E,Missense_Q218E,Silent exm187779 2 38546029 [T/C] NM_001135673,NM_022374,NR_024191 ATL2,ATL2,ATL2 EXON Missense_K166E,Missense_K166E,Silent exm187788 2 38570625 [T/G] NM_001135673,NM_022374,NR_024191 ATL2,ATL2,ATL2 EXON Missense_N50H,Missense_N50H,Silent exm2022056 2 38604338 [T/C] NM_001135673,NM_022374,NR_024191 ATL2,ATL2,ATL2 EXON Missense_R22Q,Missense_R22Q,Silent exm187801 2 38604366 [A/G] NM_001135673,NM_022374,NR_024191 ATL2,ATL2,ATL2 EXON Missense_P13S,Missense_P13S,Silent exm2255353 2 38677471 [T/G] exm-rs13392800 2 38759797 [T/G] exm187808 2 38795342 [T/C] NM_138394,NM_001142650 HNRPLL,HNRPLL EXON Synonymous_P524P,Synonymous_P519P exm187812 2 38795554 [A/G] NM_138394,NM_001142650 HNRPLL,HNRPLL EXON Missense_I483T,Missense_I478T exm187825 2 38804663 [G/C] NM_138394,NM_001142650 HNRPLL,HNRPLL EXON Missense_G272R,Missense_G267R exm2022075 2 38809221 [T/C] NM_138394,NM_001142650 HNRPLL,HNRPLL EXON Missense_Y241C,Missense_Y236C exm2022076 2 38809311 [A/C] NM_138394,NM_001142650 HNRPLL,HNRPLL Silent,Silent exm187862 2 38893338 [T/C] NM_138801 GALM EXON Missense_L12P exm2022090 2 38903107 [G/C] NM_138801 GALM EXON Missense_R82G exm187879 2 38908500 [A/G] NM_138801 GALM EXON Missense_G142R exm2022097 2 38916968 [T/C] NM_138801 GALM EXON Missense_I189T exm187886 2 38916970 [A/T] NM_138801 GALM EXON Missense_N190Y exm187887 2 38917004 [A/G] NM_138801 GALM EXON Missense_Y201C exm187890 2 38917036 [T/G] NM_138801 GALM EXON Nonsense_G212X exm187895 2 38956836 [G/C] NM_138801 GALM EXON Missense_A258G exm187908 2 38960634 [A/G] NM_138801 GALM EXON Missense_R319H exm187909 2 38960642 [C/G] NM_138801 GALM EXON Missense_P322A exm187918 2 38972328 [A/G] NM_001195446,NM_001031684 SRSF7,SRSF7 EXON Missense_R210C,Missense_R222C exm187965 2 39008790 [T/C] NM_024775 GEMIN6 EXON Missense_T87M exm187976 2 39008949 [A/G] NM_024775 GEMIN6 EXON Missense_G140D exm187980 2 39009025 [T/A] NM_024775 GEMIN6 EXON Synonymous_A165A exm2255354 2 39009025 [T/A] NM_024775 GEMIN6 EXON Synonymous_A165A exm187986 2 39025499 [A/G] NM_198963 DHX57 EXON Missense_T1368M exm187987 2 39025511 [A/G] NM_198963 DHX57 EXON Missense_I1364T exm2022160 2 39042678 [T/A] NM_198963 DHX57 EXON Missense_D1197E exm188018 2 39042718 [T/G] NM_198963 DHX57 EXON Missense_E1184A exm188026 2 39046055 [G/C] NM_198963 DHX57 EXON Nonsense_Y1145X exm188038 2 39050135 [T/A] NM_198963 DHX57 EXON Missense_F1097L exm188052 2 39050347 [T/G] NM_198963 DHX57 EXON Missense_P1027T exm188053 2 39050358 [T/C] NM_198963 DHX57 EXON Missense_R1023Q exm188055 2 39050373 [T/C] NM_198963 DHX57 EXON Missense_Q1018R exm188056 2 39050386 [G/C] NM_198963 DHX57 EXON Missense_A1014P exm2022176 2 39065087 [T/C] NM_198963 DHX57 EXON Missense_V810I exm188082 2 39070215 [T/G] NM_198963 DHX57 EXON Missense_Q786P exm188093 2 39075426 [T/C] NM_198963 DHX57 EXON Missense_V717I exm188096 2 39075500 [C/G] NM_198963 DHX57 EXON Missense_P692R exm188100 2 39075515 [A/G] NM_198963 DHX57 EXON Missense_I687T exm188112 2 39082269 [T/C] NM_198963 DHX57 EXON Missense_R612H exm188117 2 39082344 [T/C] NM_198963 DHX57 EXON Missense_N587S exm188124 2 39083534 [T/C] NM_198963 DHX57 EXON Missense_I553V exm188131 2 39085813 [T/C] NM_198963 DHX57 EXON Missense_R526Q exm188138 2 39088158 [A/G] NM_198963 DHX57 EXON Missense_S465F exm188145 2 39088255 [T/C] NM_198963 DHX57 EXON Missense_S433G exm188146 2 39088264 [A/G] NM_198963 DHX57 EXON Missense_H430Y exm188164 2 39088732 [T/C] NM_198963 DHX57 EXON Missense_I274V exm188166 2 39088761 [A/G] NM_198963 DHX57 EXON Missense_I264T exm188171 2 39088786 [T/C] NM_198963 DHX57 EXON Missense_K256E exm188181 2 39088950 [A/G] NM_198963 DHX57 EXON Missense_A201V exm188189 2 39089387 [T/C] NM_198963 DHX57 EXON Missense_V158I exm188192 2 39089441 [T/G] NM_198963 DHX57 EXON Missense_P140T exm188196 2 39090515 [T/G] NM_198963 DHX57 EXON Missense_D124A exm188200 2 39090540 [A/G] NM_198963 DHX57 EXON Nonsense_R116X exm188203 2 39090642 [T/C] NM_198963 DHX57 EXON Missense_S82G exm188207 2 39095336 [T/C] NM_198963 DHX57 EXON Missense_R71K exm188210 2 39095403 [T/C] NM_198963 DHX57 EXON Missense_G49S exm188217 2 39095444 [T/C] NM_198963 DHX57 EXON Missense_G35E exm188225 2 39109558 [A/G] NM_001145450 MORN2 EXON Missense_E48K exm188231 2 39156884 [A/C] NM_001145451 ARHGEF33 EXON Missense_A92D exm188237 2 39158297 [G/C] NM_001145451 ARHGEF33 EXON Missense_A137G exm188250 2 39164699 [T/C] NM_001145451 ARHGEF33 EXON Synonymous_A263A exm2261263 2 39165054 [T/C] NM_001145451 ARHGEF33 Silent exm188257 2 39184050 [A/G] NM_001145451 ARHGEF33 EXON Missense_K411R exm188258 2 39184060 [C/G] NM_001145451 ARHGEF33 EXON Missense_E414D exm188264 2 39187008 [C/G] NM_001145451,NR_028386 ARHGEF33,LOC375196 EXON Missense_S521T,Silent exm2237706 2 39187146 [T/C] NM_001145451,NR_028386 ARHGEF33,LOC375196 EXON Missense_A567V,Silent exm188267 2 39187217 [T/G] NM_001145451,NR_028386 ARHGEF33,LOC375196 EXON Missense_V591L,Silent exm188282 2 39213075 [T/C] NM_005633 SOS1 EXON Missense_T1298A exm188303 2 39216456 [T/C] NM_005633 SOS1 Silent exm188305 2 39222288 [T/C] NM_005633 SOS1 EXON Missense_D1108N exm188314 2 39224112 [T/C] NM_005633 SOS1 EXON Missense_N1011S exm188317 2 39224157 [A/G] NM_005633 SOS1 EXON Missense_P996L exm188318 2 39224178 [T/C] NM_005633 SOS1 EXON Missense_R989K exm188329 2 39239286 [T/G] NM_005633 SOS1 EXON Missense_L791I exm188339 2 39240612 [C/G] NM_005633 SOS1 EXON Missense_G719A exm188341 2 39240646 [T/C] NM_005633 SOS1 EXON Missense_A708T exm188345 2 39241107 [A/G] NM_005633 SOS1 EXON Missense_P655L exm188352 2 39249864 [C/G] NM_005633 SOS1 EXON Missense_L569V exm188382 2 39262577 [T/C] NM_005633 SOS1 EXON Missense_R310H exm188386 2 39278400 [A/G] NM_005633 SOS1 EXON Missense_V250A exm188389 2 39281777 [T/C] NM_005633 SOS1 EXON Missense_N233S exm2022264 2 39281888 [A/G] NM_005633 SOS1 EXON Missense_S196L exm188398 2 39281922 [T/C] NM_005633 SOS1 EXON Missense_I185V exm188401 2 39285879 [T/C] NM_005633 SOS1 EXON Missense_I94V exm188403 2 39285926 [A/C] NM_005633 SOS1 EXON Missense_F78C exm188407 2 39294873 [T/C] NM_005633 SOS1 EXON Missense_T37A exm188409 2 39347491 [A/G] NM_005633 SOS1 EXON Missense_P25S exm2269042 2 39373207 [T/C] exm2022283 2 39406320 [A/G] NM_001009565 CDKL4 EXON Missense_P312L exm188420 2 39406336 [A/G] NM_001009565 CDKL4 EXON Missense_R307C exm188423 2 39406392 [T/G] NM_001009565 CDKL4 EXON Missense_S288Y exm188426 2 39406462 [G/C] NM_001009565 CDKL4 EXON Missense_G265R exm188433 2 39414820 [A/C] NM_001009565 CDKL4 EXON Missense_F228C exm2022294 2 39431687 [A/G] NM_001009565 CDKL4 EXON Synonymous_F145F exm188452 2 39440552 [A/G] NM_001009565 CDKL4 EXON Missense_H118Y exm188465 2 39456516 [T/C] NM_001009565 CDKL4 EXON Missense_R53H exm188468 2 39456559 [T/C] NM_001009565 CDKL4 EXON Missense_E39K exm188487 2 39481660 [T/C] NM_001270425,NM_003618 MAP4K3,MAP4K3 EXON Synonymous_V803V,Synonymous_V824V exm188492 2 39485516 [T/C] NM_001270425,NM_003618 MAP4K3,MAP4K3 EXON Missense_T794A,Missense_T815A exm2277234 2 39485723 [A/G] NM_001270425,NM_003618 MAP4K3,MAP4K3 EXON Missense_P751S,Missense_P772S exm188502 2 39487824 [T/C] NM_001270425,NM_003618 MAP4K3,MAP4K3 EXON Missense_R723K,Missense_R744K exm2255356 2 39492386 [T/C] NM_001270425,NM_003618 MAP4K3,MAP4K3 EXON Synonymous_L677L,Synonymous_L698L exm188511 2 39492446 [T/G] NM_001270425,NM_003618 MAP4K3,MAP4K3 EXON Synonymous_V657V,Synonymous_V678V exm2022317 2 39499448 [T/C] NM_001270425,NM_003618 MAP4K3,MAP4K3 EXON Missense_K629R,Missense_K650R exm188517 2 39499487 [T/C] NM_001270425,NM_003618 MAP4K3,MAP4K3 EXON Missense_R616K,Missense_R637K exm188522 2 39499683 [A/G] NM_001270425,NM_003618 MAP4K3,MAP4K3 EXON Synonymous_L578L,Synonymous_L599L exm188538 2 39509689 [T/C] NM_001270425,NM_003618 MAP4K3,MAP4K3 EXON Missense_I511V,Missense_I532V exm188541 2 39514069 [T/C] NM_001270425,NM_003618 MAP4K3,MAP4K3 EXON Missense_R483Q,Missense_R504Q exm188542 2 39514076 [G/C] NM_001270425,NM_003618 MAP4K3,MAP4K3 EXON Missense_G481R,Missense_G502R exm188550 2 39517475 [C/G] NM_001270425,NM_003618 MAP4K3,MAP4K3 EXON Missense_H403Q,Missense_H424Q exm188555 2 39519957 [T/C] NM_001270425,NM_003618 MAP4K3,MAP4K3 EXON Missense_A389T,Missense_A410T exm188570 2 39535087 [T/A] NM_001270425,NM_003618 MAP4K3,MAP4K3 EXON Silent,Missense_N372K exm188572 2 39536640 [G/C] NM_001270425,NM_003618 MAP4K3,MAP4K3 EXON Missense_P340A,Missense_P340A exm2022345 2 39542484 [A/C] NM_001270425,NM_003618 MAP4K3,MAP4K3 EXON Missense_V322L,Missense_V322L exm188657 2 39944285 [A/G] NM_001167959,NM_152390 TMEM178A,TMEM178A EXON Missense_C81Y,Missense_C263Y exm188658 2 39944300 [T/C] NM_001167959,NM_152390 TMEM178A,TMEM178A EXON Missense_I86T,Missense_I268T exm-rs2716734 2 39947721 [T/C] exm-rs2540226 2 39959060 [A/C] exm188664 2 39963886 [A/G] NR_028102,NM_025264 THUMPD2,THUMPD2 EXON Silent,Missense_S501P exm188666 2 39963894 [T/G] NR_028102,NM_025264 THUMPD2,THUMPD2 EXON Silent,Nonsense_S498X exm188674 2 39963992 [T/G] NR_028102,NM_025264 THUMPD2,THUMPD2 EXON Silent,Missense_F465L exm188679 2 39964107 [T/C] NR_028102,NM_025264 THUMPD2,THUMPD2 EXON Silent,Missense_N427S exm188681 2 39964143 [C/G] NR_028102,NM_025264 THUMPD2,THUMPD2 EXON Silent,Missense_R415P exm188695 2 39982512 [T/C] NR_028102,NM_025264 THUMPD2,THUMPD2 EXON Silent,Missense_Q334R exm188704 2 39988471 [G/C] NR_028102,NM_025264 THUMPD2,THUMPD2 EXON Silent,Missense_K297N exm188705 2 39988479 [C/G] NR_028102,NM_025264 THUMPD2,THUMPD2 EXON Silent,Missense_D295H exm188715 2 39993198 [T/C] NR_028102,NM_025264 THUMPD2,THUMPD2 EXON Silent,Missense_R268G exm188717 2 39995563 [A/C] NR_028102,NM_025264 THUMPD2,THUMPD2 Silent,Silent exm188733 2 39996932 [A/G] NR_028102,NM_025264 THUMPD2,THUMPD2 EXON Silent,Missense_I197T exm188734 2 39996933 [T/C] NR_028102,NM_025264 THUMPD2,THUMPD2 EXON Silent,Missense_I197V exm188738 2 39997057 [T/C] NR_028102,NM_025264 THUMPD2,THUMPD2 EXON Silent,Missense_I155M exm2237715 2 39997128 [A/G] NR_028102,NM_025264 THUMPD2,THUMPD2 EXON Silent,Nonsense_Q132X exm2237717 2 40006345 [A/G] NR_028102,NM_025264 THUMPD2,THUMPD2 EXON Silent,Missense_P12L exm2269043 2 40063438 [T/G] exm2269264 2 40207338 [T/C] NR_038441 SLC8A1-AS1 Silent exm2237718 2 40342461 [A/C] NR_038441,NM_001112802,NM_001112800,NM_001112801,NM_001252624,NM_021097 SLC8A1-AS1,SLC8A1,SLC8A1,SLC8A1,SLC8A1,SLC8A1 EXON Silent,Missense_V916L,Missense_V947L,Missense_V939L,Missense_V944L,Missense_V952L exm188782 2 40392095 [T/C] NR_038441,NM_001112802,NM_001112800,NM_001112801,NM_001252624,NM_021097 SLC8A1-AS1,SLC8A1,SLC8A1,SLC8A1,SLC8A1,SLC8A1 EXON Silent,Missense_S654G,Missense_S685G,Missense_S677G,Missense_S682G,Missense_S690G exm2022410 2 40392123 [A/G] NR_038441,NM_001112802,NM_001112800,NM_001112801,NM_001252624,NM_021097 SLC8A1-AS1,SLC8A1,SLC8A1,SLC8A1,SLC8A1,SLC8A1 EXON Silent,Synonymous_D644D,Synonymous_D675D,Synonymous_D667D,Synonymous_D672D,Synonymous_D680D exm188792 2 40404966 [T/C] NR_038441,NM_001112802,NM_001112800,NM_001112801,NM_001252624,NM_021097 SLC8A1-AS1,SLC8A1,SLC8A1,SLC8A1,SLC8A1,SLC8A1 EXON Silent,Missense_R613H,Silent,Missense_R613H,Missense_R613H,Silent exm2255359 2 40527128 [T/G] NM_001112802,NM_001112800,NM_001112801,NM_001252624,NM_021097 SLC8A1,SLC8A1,SLC8A1,SLC8A1,SLC8A1 Silent,Silent,Silent,Silent,Silent exm2255360 2 40655858 [A/G] NM_001112802,NM_001112800,NM_001112801,NM_001252624,NM_021097 SLC8A1,SLC8A1,SLC8A1,SLC8A1,SLC8A1 EXON Synonymous_L521L,Synonymous_L521L,Synonymous_L521L,Synonymous_L521L,Synonymous_L521L exm188818 2 40655875 [T/A] NM_001112802,NM_001112800,NM_001112801,NM_001252624,NM_021097 SLC8A1,SLC8A1,SLC8A1,SLC8A1,SLC8A1 EXON Missense_S516T,Missense_S516T,Missense_S516T,Missense_S516T,Missense_S516T exm188822 2 40655940 [T/C] NM_001112802,NM_001112800,NM_001112801,NM_001252624,NM_021097 SLC8A1,SLC8A1,SLC8A1,SLC8A1,SLC8A1 EXON Missense_H494R,Missense_H494R,Missense_H494R,Missense_H494R,Missense_H494R exm188830 2 40656109 [T/C] NM_001112802,NM_001112800,NM_001112801,NM_001252624,NM_021097 SLC8A1,SLC8A1,SLC8A1,SLC8A1,SLC8A1 EXON Missense_N438D,Missense_N438D,Missense_N438D,Missense_N438D,Missense_N438D exm188836 2 40656318 [A/G] NM_001112802,NM_001112800,NM_001112801,NM_001252624,NM_021097 SLC8A1,SLC8A1,SLC8A1,SLC8A1,SLC8A1 EXON Missense_A368V,Missense_A368V,Missense_A368V,Missense_A368V,Missense_A368V exm188864 2 40657138 [T/C] NM_001112802,NM_001112800,NM_001112801,NM_001252624,NM_021097 SLC8A1,SLC8A1,SLC8A1,SLC8A1,SLC8A1 EXON Missense_I95V,Missense_I95V,Missense_I95V,Missense_I95V,Missense_I95V exm188868 2 40657356 [A/G] NM_001112802,NM_001112800,NM_001112801,NM_001252624,NM_021097 SLC8A1,SLC8A1,SLC8A1,SLC8A1,SLC8A1 EXON Missense_T22I,Missense_T22I,Missense_T22I,Missense_T22I,Missense_T22I exm188869 2 40657386 [A/G] NM_001112802,NM_001112800,NM_001112801,NM_001252624,NM_021097 SLC8A1,SLC8A1,SLC8A1,SLC8A1,SLC8A1 EXON Missense_T12I,Missense_T12I,Missense_T12I,Missense_T12I,Missense_T12I exm188871 2 40657404 [T/C] NM_001112802,NM_001112800,NM_001112801,NM_001252624,NM_021097 SLC8A1,SLC8A1,SLC8A1,SLC8A1,SLC8A1 EXON Missense_R6Q,Missense_R6Q,Missense_R6Q,Missense_R6Q,Missense_R6Q exm188875 2 40657408 [A/G] NM_001112802,NM_001112800,NM_001112801,NM_001252624,NM_021097 SLC8A1,SLC8A1,SLC8A1,SLC8A1,SLC8A1 EXON Missense_R5W,Missense_R5W,Missense_R5W,Missense_R5W,Missense_R5W exm188876 2 40657416 [T/A] NM_001112802,NM_001112800,NM_001112801,NM_001252624,NM_021097 SLC8A1,SLC8A1,SLC8A1,SLC8A1,SLC8A1 EXON Missense_Y2F,Missense_Y2F,Missense_Y2F,Missense_Y2F,Missense_Y2F exm2269265 2 40835285 [T/G] exm-rs11124754 2 40876113 [T/C] exm2265141 2 40998751 [A/G] exm2269045 2 41488391 [T/C] exm2261266 2 41531398 [T/C] exm-rs1920511 2 41792845 [A/G] exm-rs719593 2 42004997 [A/G] exm2269046 2 42012857 [T/C] exm2265315 2 42180912 [A/G] NM_001242815 C2orf91 EXON Silent exm188895 2 42275914 [C/G] NM_138370 PKDCC EXON Missense_A192G exm-rs4952590 2 42276921 [T/C] NM_138370 PKDCC Silent exm188904 2 42280404 [A/G] NM_138370 PKDCC EXON Missense_S222N exm188905 2 42280448 [A/G] NM_138370 PKDCC EXON Missense_A237T exm188909 2 42281194 [T/C] NM_138370 PKDCC EXON Missense_R261C exm188922 2 42281312 [A/G] NM_138370 PKDCC EXON Missense_R300H exm188924 2 42281324 [T/C] NM_138370 PKDCC EXON Missense_T304M exm188925 2 42281338 [A/G] NM_138370 PKDCC EXON Missense_S309G exm188929 2 42281413 [A/G] NM_138370 PKDCC EXON Missense_M334V exm188942 2 42282440 [A/G] NM_138370 PKDCC EXON Missense_G377R exm188946 2 42282516 [T/C] NM_138370 PKDCC EXON Missense_T402M exm188955 2 42284418 [A/C] NM_138370 PKDCC EXON Missense_S427Y exm2255365 2 42329329 [A/G] exm188973 2 42472672 [T/C] NM_001145076,NM_019063 EML4,EML4 EXON Missense_S18F,Missense_S18F exm188975 2 42472677 [A/G] NM_001145076,NM_019063 EML4,EML4 EXON Missense_V20I,Missense_V20I exm188977 2 42472708 [A/G] NM_001145076,NM_019063 EML4,EML4 EXON Missense_R30Q,Missense_R30Q exm189016 2 42510018 [A/G] NM_001145076,NM_019063 EML4,EML4 EXON Missense_K225E,Missense_K283E exm189022 2 42513424 [A/G] NM_001145076,NM_019063 EML4,EML4 EXON Missense_V285I,Missense_V343I exm189029 2 42515388 [A/G] NM_001145076,NM_019063 EML4,EML4 EXON Missense_I324V,Missense_I382V exm189033 2 42515437 [A/G] NM_001145076,NM_019063 EML4,EML4 EXON Missense_K340R,Missense_K398R exm189034 2 42515451 [A/G] NM_001145076,NM_019063 EML4,EML4 EXON Missense_A345T,Missense_A403T exm2022489 2 42522365 [A/G] NM_001145076,NM_019063 EML4,EML4 EXON Missense_G382D,Missense_G440D exm2022490 2 42522368 [A/G] NM_001145076,NM_019063 EML4,EML4 EXON Missense_N383S,Missense_N441S exm189044 2 42522542 [C/G] NM_001145076,NM_019063 EML4,EML4 EXON Missense_V401L,Missense_V459L exm2255366 2 42528400 [A/G] NM_001145076,NM_019063 EML4,EML4 EXON Synonymous_K445K,Synonymous_K503K exm2275584 2 42530255 [A/G] NM_001145076,NM_019063 EML4,EML4 EXON Synonymous_Q493Q,Synonymous_Q551Q exm189060 2 42530292 [A/G] NM_001145076,NM_019063 EML4,EML4 EXON Missense_D506N,Missense_D564N exm189072 2 42530551 [A/G] NM_001145076,NM_019063 EML4,EML4 EXON Missense_M564V,Missense_M622V exm189089 2 42544584 [A/G] NM_001145076,NM_019063 EML4,EML4 EXON Missense_V634I,Missense_V692I exm189098 2 42553315 [A/G] NM_001145076,NM_019063 EML4,EML4 EXON Missense_K697R,Missense_K755R exm189109 2 42556146 [C/G] NM_001145076,NM_019063 EML4,EML4 EXON Missense_S763C,Missense_S821C exm189111 2 42556897 [T/C] NM_001145076,NM_019063 EML4,EML4 EXON Synonymous_A774A,Synonymous_A832A exm2255367 2 42556897 [T/C] NM_001145076,NM_019063 EML4,EML4 EXON Synonymous_A774A,Synonymous_A832A exm2237722 2 42557334 [T/C] NM_001145076,NM_019063 EML4,EML4 EXON Missense_S920L,Missense_S978L exm189128 2 42578409 [T/C] NM_004718 COX7A2L EXON Missense_I99V exm189129 2 42578483 [A/G] NM_004718 COX7A2L EXON Missense_P74L exm2022529 2 42580450 [T/G] NM_004718 COX7A2L EXON Missense_P36T exm189139 2 42580456 [G/C] NM_004718 COX7A2L EXON Missense_A34P exm189168 2 42671597 [A/G] NM_133329,NM_172344 KCNG3,KCNG3 EXON Missense_T263M,Missense_T252M exm189199 2 42836709 [C/G] NM_020744 MTA3 EXON Missense_P101R exm189204 2 42883375 [A/G] NM_020744 MTA3 EXON Missense_V179I exm189223 2 42931358 [A/G] NM_020744 MTA3 EXON Missense_I350M exm2022568 2 42936042 [A/G] NM_020744 MTA3 EXON Missense_R444H exm-rs930421 2 42981239 [A/G] exm189246 2 42990088 [T/C] NM_148962 OXER1 EXON Missense_G411D exm189247 2 42990101 [C/G] NM_148962 OXER1 EXON Missense_L407V exm189248 2 42990109 [A/G] NM_148962 OXER1 EXON Missense_I404T exm189265 2 42990217 [A/G] NM_148962 OXER1 EXON Missense_A368V exm189267 2 42990225 [G/C] NM_148962 OXER1 EXON Missense_Q365H exm189269 2 42990237 [C/G] NM_148962 OXER1 EXON Missense_N361K exm2022575 2 42990344 [G/C] NM_148962 OXER1 EXON Missense_A326P exm189276 2 42990384 [C/G] NM_148962 OXER1 EXON Missense_I312M exm189277 2 42990391 [A/G] NM_148962 OXER1 EXON Missense_P310L exm189278 2 42990436 [T/C] NM_148962 OXER1 EXON Missense_R295H exm189283 2 42990476 [A/G] NM_148962 OXER1 EXON Missense_R282C exm189284 2 42990481 [T/C] NM_148962 OXER1 EXON Missense_R280Q exm189291 2 42990568 [T/C] NM_148962 OXER1 EXON Missense_R251H exm189292 2 42990569 [A/G] NM_148962 OXER1 EXON Missense_R251C exm189306 2 42990844 [T/C] NM_148962 OXER1 EXON Missense_R159H exm189310 2 42990937 [A/G] NM_148962 OXER1 EXON Missense_T128M exm189312 2 42990956 [A/G] NM_148962 OXER1 EXON Missense_R122W exm189314 2 42990958 [A/G] NM_148962 OXER1 EXON Missense_T121M exm189315 2 42990973 [A/G] NM_148962 OXER1 EXON Missense_I116T exm189321 2 42991127 [A/G] NM_148962 OXER1 EXON Missense_P65S exm189326 2 42991200 [G/C] NM_148962 OXER1 EXON Missense_M40I exm189329 2 42991231 [A/G] NM_148962 OXER1 EXON Missense_L30P exm189339 2 42994581 [A/C] NM_012205 HAAO EXON Missense_G286V exm189341 2 42994612 [T/C] NM_012205 HAAO EXON Missense_T276A exm189342 2 42994641 [T/C] NM_012205 HAAO EXON Missense_R266Q exm189343 2 42994647 [G/C] NM_012205 HAAO EXON Missense_W264S exm189348 2 42994784 [A/G] NM_012205 HAAO EXON Missense_R245C exm189350 2 42994814 [G/C] NM_012205 HAAO EXON Missense_G235R exm2237727 2 42995046 [A/C] NM_012205 HAAO EXON Missense_S218I exm189356 2 42995058 [T/C] NM_012205 HAAO EXON Missense_Y214C exm189387 2 43010950 [A/G] NM_012205 HAAO EXON Missense_R73W exm189396 2 43015719 [T/C] NM_012205 HAAO EXON Missense_I37V exm2269267 2 43247227 [T/C] exm189409 2 43451498 [C/G] NM_006887 ZFP36L2 EXON Missense_R482P exm2255370 2 43452202 [T/C] NM_006887 ZFP36L2 EXON Synonymous_P247P exm2022622 2 43452286 [G/C] NM_006887 ZFP36L2 EXON Missense_D219E exm189469 2 43452618 [T/C] NM_006887 ZFP36L2 EXON Missense_G109S exm189479 2 43452755 [A/G] NM_006887 ZFP36L2 EXON Missense_A63V exm189480 2 43452757 [A/C] NM_006887 ZFP36L2 EXON Missense_H62Q exm189487 2 43452875 [A/G] NM_006887 ZFP36L2 EXON Missense_A23V exm189503 2 43458176 [T/C] NM_001083953,NM_022065,NR_073394 THADA,THADA,THADA EXON Missense_E1925K,Missense_E1925K,Silent exm189506 2 43458236 [A/G] NM_001083953,NM_022065,NR_073394 THADA,THADA,THADA EXON Missense_R1905C,Missense_R1905C,Silent exm2022642 2 43458358 [T/C] NM_001083953,NM_022065,NR_073394 THADA,THADA,THADA EXON Missense_S1864N,Missense_S1864N,Silent exm189509 2 43458474 [T/G] NM_001083953,NM_022065,NR_073394 THADA,THADA,THADA EXON Missense_E1825D,Missense_E1825D,Silent exm189518 2 43506919 [T/G] NM_001083953,NM_022065,NR_073394 THADA,THADA,THADA EXON Missense_T1761P,Missense_T1761P,Silent exm189521 2 43506979 [T/C] NM_001083953,NM_022065,NR_073394 THADA,THADA,THADA EXON Missense_E1741K,Missense_E1741K,Silent exm189529 2 43518843 [A/G] NM_001083953,NM_022065,NR_073394 THADA,THADA,THADA EXON Missense_C1668R,Missense_C1668R,Silent exm189533 2 43519267 [A/G] NM_001083953,NM_022065,NR_073394 THADA,THADA,THADA EXON Missense_T1638M,Missense_T1638M,Silent exm189540 2 43519349 [G/C] NM_001083953,NM_022065,NR_073394 THADA,THADA,THADA EXON Missense_L1611V,Missense_L1611V,Silent exm189542 2 43519977 [T/C] NM_001083953,NM_022065,NR_073394 THADA,THADA,THADA EXON Missense_C1605Y,Missense_C1605Y,Silent exm189548 2 43520160 [C/G] NM_001083953,NM_022065,NR_073394 THADA,THADA,THADA EXON Missense_S1544C,Missense_S1544C,Silent exm2022656 2 43520175 [A/G] NM_001083953,NM_022065,NR_073394 THADA,THADA,THADA EXON Missense_T1539M,Missense_T1539M,Silent exm189559 2 43547672 [A/G] NM_001083953,NM_022065,NR_073394 THADA,THADA,THADA EXON Missense_P1451S,Missense_P1451S,Silent exm-rs1465618 2 43553949 [T/C] NM_001083953,NM_022065,NR_073394 THADA,THADA,THADA Silent,Silent,Silent exm189561 2 43571277 [A/G] NM_001083953,NM_022065,NR_073394 THADA,THADA,THADA EXON Missense_L1443F,Missense_L1443F,Silent exm189566 2 43571333 [A/G] NM_001083953,NM_022065,NR_073394 THADA,THADA,THADA EXON Missense_T1424M,Missense_T1424M,Silent exm-rs6732426 2 43587504 [T/C] NM_001083953,NM_022065,NR_073394 THADA,THADA,THADA Silent,Silent,Silent exm189572 2 43625142 [A/G] NM_001083953,NM_022065,NR_073394 THADA,THADA,THADA EXON Missense_R1399W,Missense_R1399W,Silent exm189574 2 43625184 [T/A] NM_001083953,NM_022065,NR_073394 THADA,THADA,THADA EXON Missense_T1385S,Missense_T1385S,Silent exm189579 2 43625278 [A/C] NM_001083953,NM_022065,NR_073394 THADA,THADA,THADA EXON Missense_R1353S,Missense_R1353S,Silent exm-rs7567607 2 43638185 [T/C] NM_001083953,NM_022065,NR_073394 THADA,THADA,THADA Silent,Silent,Silent exm-rs13429458 2 43638838 [A/C] NM_001083953,NM_022065,NR_073394 THADA,THADA,THADA Silent,Silent,Silent exm2237735 2 43655306 [A/G] NM_001083953,NM_022065,NR_073394 THADA,THADA,THADA EXON Missense_Y1331H,Missense_Y1331H,Silent exm-rs12478601 2 43721508 [T/C] NM_001083953,NM_022065,NR_073394 THADA,THADA,THADA Silent,Silent,Silent exm189598 2 43726006 [A/G] NM_001083953,NM_022065,NR_073394 THADA,THADA,THADA EXON Missense_A1237V,Missense_A1237V,Silent exm189601 2 43732823 [T/C] NM_001083953,NM_022065,NR_073394 THADA,THADA,THADA EXON Missense_T1187A,Missense_T1187A,Silent exm189609 2 43768308 [A/G] NM_001083953,NM_022065,NR_073394 THADA,THADA,THADA EXON Missense_T1085M,Missense_T1085M,Silent exm189612 2 43768341 [T/A] NM_001083953,NM_022065,NR_073394 THADA,THADA,THADA EXON Missense_Q1074L,Missense_Q1074L,Silent exm189613 2 43768343 [T/C] NM_001083953,NM_022065,NR_073394 THADA,THADA,THADA EXON Missense_M1073I,Missense_M1073I,Silent exm189614 2 43768345 [T/C] NM_001083953,NM_022065,NR_073394 THADA,THADA,THADA EXON Missense_M1073V,Missense_M1073V,Silent exm189627 2 43779001 [C/G] NM_001083953,NM_022065,NR_073394 THADA,THADA,THADA EXON Missense_R958S,Missense_R958S,Silent exm189633 2 43779455 [A/G] NM_001083953,NM_022065,NR_073394,NM_001271643 THADA,THADA,THADA,THADA EXON Missense_L900F,Missense_L900F,Silent,Missense_L900F exm2265144 2 43783141 [A/G] NM_001083953,NM_022065,NR_073394,NM_001271643 THADA,THADA,THADA,THADA Silent,Silent,Silent,Silent exm189637 2 43783573 [A/G] NM_001083953,NM_022065,NR_073394,NM_001271643,NM_001271644 THADA,THADA,THADA,THADA,THADA EXON Missense_P862L,Missense_P862L,Silent,Missense_P862L,Missense_P862L exm189642 2 43783640 [T/C] NM_001083953,NM_022065,NR_073394,NM_001271643,NM_001271644 THADA,THADA,THADA,THADA,THADA EXON Missense_T840A,Missense_T840A,Silent,Missense_T840A,Missense_T840A exm189648 2 43787396 [A/G] NM_001083953,NM_022065,NR_073394,NM_001271643,NM_001271644 THADA,THADA,THADA,THADA,THADA EXON Missense_S814P,Missense_S814P,Silent,Missense_S814P,Missense_S814P exm2022722 2 43787446 [T/C] NM_001083953,NM_022065,NR_073394,NM_001271643,NM_001271644 THADA,THADA,THADA,THADA,THADA EXON Missense_S797N,Missense_S797N,Silent,Missense_S797N,Missense_S797N exm189663 2 43797619 [T/C] NM_001083953,NM_022065,NR_073394,NM_001271643,NM_001271644 THADA,THADA,THADA,THADA,THADA EXON Missense_V699I,Missense_V699I,Silent,Missense_V699I,Missense_V699I exm189664 2 43797629 [T/G] NM_001083953,NM_022065,NR_073394,NM_001271643,NM_001271644 THADA,THADA,THADA,THADA,THADA EXON Missense_E695D,Missense_E695D,Silent,Missense_E695D,Missense_E695D exm189669 2 43798899 [C/G] NM_001083953,NM_022065,NR_073394,NM_001271643,NM_001271644 THADA,THADA,THADA,THADA,THADA EXON Missense_L671V,Missense_L671V,Silent,Missense_L671V,Missense_L671V exm189679 2 43801489 [A/G] NM_001083953,NM_022065,NR_073394,NM_001271643,NM_001271644 THADA,THADA,THADA,THADA,THADA EXON Missense_I572T,Missense_I572T,Silent,Missense_I572T,Missense_I572T exm2237737 2 43801508 [T/C] NM_001083953,NM_022065,NR_073394,NM_001271643,NM_001271644 THADA,THADA,THADA,THADA,THADA EXON Missense_K566E,Missense_K566E,Silent,Missense_K566E,Missense_K566E exm2255372 2 43801771 [A/G] NM_001083953,NM_022065,NR_073394,NM_001271643,NM_001271644 THADA,THADA,THADA,THADA,THADA EXON Missense_P478L,Missense_P478L,Silent,Missense_P478L,Missense_P478L exm189694 2 43801829 [G/C] NM_001083953,NM_022065,NR_073394,NM_001271643,NM_001271644 THADA,THADA,THADA,THADA,THADA EXON Missense_G459R,Missense_G459R,Silent,Missense_G459R,Missense_G459R exm189699 2 43801988 [T/C] NM_001083953,NM_022065,NR_073394,NM_001271643,NM_001271644 THADA,THADA,THADA,THADA,THADA EXON Missense_A406T,Missense_A406T,Silent,Missense_A406T,Missense_A406T exm2255373 2 43801994 [A/G] NM_001083953,NM_022065,NR_073394,NM_001271643,NM_001271644 THADA,THADA,THADA,THADA,THADA EXON Synonymous_L404L,Synonymous_L404L,Silent,Synonymous_L404L,Synonymous_L404L exm189701 2 43801994 [A/G] NM_001083953,NM_022065,NR_073394,NM_001271643,NM_001271644 THADA,THADA,THADA,THADA,THADA EXON Synonymous_L404L,Synonymous_L404L,Silent,Synonymous_L404L,Synonymous_L404L exm189703 2 43802032 [T/C] NM_001083953,NM_022065,NR_073394,NM_001271643,NM_001271644 THADA,THADA,THADA,THADA,THADA EXON Missense_R391K,Missense_R391K,Silent,Missense_R391K,Missense_R391K exm189704 2 43802056 [T/C] NM_001083953,NM_022065,NR_073394,NM_001271643,NM_001271644 THADA,THADA,THADA,THADA,THADA EXON Missense_N383S,Missense_N383S,Silent,Missense_N383S,Missense_N383S exm189706 2 43802090 [T/C] NM_001083953,NM_022065,NR_073394,NM_001271643,NM_001271644 THADA,THADA,THADA,THADA,THADA EXON Missense_E372K,Missense_E372K,Silent,Missense_E372K,Missense_E372K exm189709 2 43802152 [A/G] NM_001083953,NM_022065,NR_073394,NM_001271643,NM_001271644 THADA,THADA,THADA,THADA,THADA EXON Missense_T351M,Missense_T351M,Silent,Missense_T351M,Missense_T351M exm189710 2 43802153 [T/C] NM_001083953,NM_022065,NR_073394,NM_001271643,NM_001271644 THADA,THADA,THADA,THADA,THADA EXON Missense_T351A,Missense_T351A,Silent,Missense_T351A,Missense_T351A exm189713 2 43804215 [T/C] NM_001083953,NM_022065,NR_073394,NM_001271643,NM_001271644 THADA,THADA,THADA,THADA,THADA EXON Missense_S328N,Missense_S328N,Silent,Missense_S328N,Missense_S328N exm189715 2 43804251 [A/G] NM_001083953,NM_022065,NR_073394,NM_001271643,NM_001271644 THADA,THADA,THADA,THADA,THADA EXON Missense_A316V,Missense_A316V,Silent,Missense_A316V,Missense_A316V exm-rs10495903 2 43806918 [T/C] NM_001083953,NM_022065,NR_073394,NM_001271643,NM_001271644 THADA,THADA,THADA,THADA,THADA Silent,Silent,Silent,Silent,Silent exm189740 2 43813570 [T/C] NM_001083953,NM_022065,NR_073394,NM_001271643,NM_001271644 THADA,THADA,THADA,THADA,THADA EXON Missense_K168R,Missense_K168R,Silent,Missense_K168R,Missense_K168R exm189743 2 43814023 [T/C] NM_001083953,NM_022065,NR_073394,NM_001271643,NM_001271644 THADA,THADA,THADA,THADA,THADA EXON Missense_I141V,Missense_I141V,Silent,Missense_I141V,Missense_I141V exm189745 2 43814095 [A/G] NM_001083953,NM_022065,NR_073394,NM_001271643,NM_001271644 THADA,THADA,THADA,THADA,THADA EXON Missense_R117C,Missense_R117C,Silent,Missense_R117C,Missense_R117C exm189751 2 43818077 [T/C] NM_001083953,NM_022065,NR_073394,NM_001271643,NM_001271644 THADA,THADA,THADA,THADA,THADA EXON Missense_E63G,Missense_E63G,Silent,Missense_E63G,Missense_E63G exm2255374 2 43819161 [T/C] NM_001083953,NM_022065,NR_073394,NM_001271643,NM_001271644 THADA,THADA,THADA,THADA,THADA EXON Missense_N34S,Missense_N34S,Silent,Missense_N34S,Missense_N34S exm189760 2 43871897 [A/G] NM_172069 PLEKHH2 EXON Missense_V29I exm189766 2 43902587 [T/C] NM_172069,NM_001101330 PLEKHH2,LOC728819 EXON Silent,Missense_R292Q exm189774 2 43902757 [G/C] NM_172069,NM_001101330 PLEKHH2,LOC728819 EXON Silent,Missense_E235D exm189775 2 43902763 [A/C] NM_172069,NM_001101330 PLEKHH2,LOC728819 EXON Silent,Missense_N233K exm189780 2 43902848 [A/C] NM_172069,NM_001101330 PLEKHH2,LOC728819 EXON Silent,Missense_C205F exm189783 2 43902964 [T/A] NM_172069,NM_001101330 PLEKHH2,LOC728819 EXON Silent,Nonsense_Y166X exm2277235 2 43902965 [T/C] NM_172069,NM_001101330 PLEKHH2,LOC728819 EXON Silent,Missense_Y166C exm189795 2 43903164 [C/G] NM_172069,NM_001101330 PLEKHH2,LOC728819 EXON Silent,Missense_L100V exm189796 2 43903184 [T/C] NM_172069,NM_001101330 PLEKHH2,LOC728819 EXON Silent,Missense_K93R exm189797 2 43903262 [A/C] NM_172069,NM_001101330 PLEKHH2,LOC728819 EXON Silent,Missense_S67I exm189798 2 43903314 [T/C] NM_172069,NM_001101330 PLEKHH2,LOC728819 EXON Silent,Missense_R50G exm189809 2 43903432 [A/C] NM_172069,NM_001101330 PLEKHH2,LOC728819 EXON Silent,Missense_F10L exm189810 2 43903445 [T/C] NM_172069,NM_001101330 PLEKHH2,LOC728819 EXON Silent,Missense_G6E exm189812 2 43906035 [A/G] NM_172069 PLEKHH2 EXON Missense_E53K exm2022780 2 43919701 [A/G] NM_172069 PLEKHH2 EXON Missense_E79K exm189830 2 43922335 [G/C] NM_172069 PLEKHH2 EXON Missense_E158D exm189838 2 43924489 [A/G] NM_172069 PLEKHH2 EXON Missense_M228V exm189847 2 43926885 [A/G] NM_172069 PLEKHH2 EXON Missense_R263Q exm189853 2 43926931 [T/G] NM_172069 PLEKHH2 EXON Missense_N278K exm189861 2 43926974 [A/G] NM_172069 PLEKHH2 EXON Missense_G293R exm189872 2 43927221 [C/G] NM_172069 PLEKHH2 EXON Missense_S375T exm189875 2 43927253 [A/C] NM_172069 PLEKHH2 EXON Missense_L386M exm189881 2 43927374 [A/G] NM_172069 PLEKHH2 EXON Missense_K426R exm2022794 2 43927520 [A/G] NM_172069 PLEKHH2 EXON Missense_A475T exm189890 2 43927538 [A/C] NM_172069 PLEKHH2 EXON Missense_P481T exm189897 2 43927620 [A/G] NM_172069 PLEKHH2 EXON Missense_D508G exm189905 2 43931160 [T/C] NM_172069 PLEKHH2 EXON Missense_M564T exm189906 2 43931168 [A/G] NM_172069 PLEKHH2 EXON Missense_A567T exm189910 2 43933467 [T/C] NM_172069 PLEKHH2 EXON Missense_A578V exm189916 2 43934591 [A/G] NM_172069 PLEKHH2 EXON Missense_E625K exm189930 2 43937198 [T/C] NM_172069 PLEKHH2 EXON Missense_T679M exm189936 2 43937393 [T/C] NM_172069 PLEKHH2 EXON Missense_M713T exm2255375 2 43958656 [A/T] NM_172069 PLEKHH2 EXON Nonsense_L953X exm2273784 2 43958680 [T/C] NM_172069 PLEKHH2 EXON Missense_I961T exm189989 2 43958708 [A/C] NM_172069 PLEKHH2 EXON Missense_E970D exm190002 2 43968094 [T/C] NM_172069 PLEKHH2 EXON Missense_L1045F exm190004 2 43968109 [A/G] NM_172069 PLEKHH2 EXON Missense_V1050I exm190008 2 43968167 [A/G] NM_172069 PLEKHH2 EXON Missense_R1069K exm190031 2 43973099 [A/G] NM_172069 PLEKHH2 EXON Missense_N1217S exm190053 2 43986121 [A/G] NM_172069 PLEKHH2 EXON Missense_V1342I exm190056 2 43989525 [C/G] NM_172069 PLEKHH2 EXON Missense_S1385C exm190063 2 43991488 [T/C] NM_172069 PLEKHH2 EXON Missense_A1427V exm2269268 2 44000495 [T/C] exm190087 2 44004010 [T/C] NM_015522,NM_001193464,NM_016008 DYNC2LI1,DYNC2LI1,DYNC2LI1 EXON Missense_F33S,Missense_F33S,Missense_F33S exm190088 2 44004027 [T/A] NM_015522,NM_001193464,NM_016008 DYNC2LI1,DYNC2LI1,DYNC2LI1 EXON Missense_S39C,Missense_S39C,Missense_S39C exm190097 2 44016824 [A/C] NM_015522,NM_001193464,NM_016008 DYNC2LI1,DYNC2LI1,DYNC2LI1 EXON Missense_D95A,Missense_D95A,Missense_D95A exm190107 2 44021624 [G/C] NM_015522,NM_001193464,NM_016008 DYNC2LI1,DYNC2LI1,DYNC2LI1 EXON Missense_L117V,Missense_L117V,Missense_L117V exm190111 2 44021676 [T/C] NM_015522,NM_001193464,NM_016008 DYNC2LI1,DYNC2LI1,DYNC2LI1 EXON Missense_T134I,Missense_T134I,Missense_T134I exm190115 2 44021766 [T/C] NM_015522,NM_001193464,NM_016008 DYNC2LI1,DYNC2LI1,DYNC2LI1 EXON Missense_M164T,Missense_M164T,Missense_M164T exm190117 2 44021826 [T/A] NM_015522,NM_001193464,NM_016008 DYNC2LI1,DYNC2LI1,DYNC2LI1 EXON Missense_F184Y,Silent,Silent exm190118 2 44021829 [T/C] NM_015522,NM_001193464,NM_016008 DYNC2LI1,DYNC2LI1,DYNC2LI1 EXON Missense_I185T,Silent,Silent exm190120 2 44023025 [A/G] NM_001193464,NM_016008 DYNC2LI1,DYNC2LI1 Silent,Silent exm190121 2 44023035 [A/G] NM_001193464,NM_016008 DYNC2LI1,DYNC2LI1 EXON Missense_E173K,Missense_E172K exm190123 2 44023054 [T/C] NM_001193464,NM_016008 DYNC2LI1,DYNC2LI1 EXON Missense_P179L,Missense_P178L exm190133 2 44028013 [A/T] NM_001193464,NM_016008 DYNC2LI1,DYNC2LI1 EXON Missense_I231L,Missense_I230L exm190146 2 44028839 [A/G] NM_001193464,NM_016008 DYNC2LI1,DYNC2LI1 EXON Missense_G266S,Missense_G265S exm190149 2 44031839 [T/G] NM_001193464,NM_016008 DYNC2LI1,DYNC2LI1 EXON Missense_E288D,Missense_E287D exm190150 2 44031852 [A/G] NM_001193464,NM_016008 DYNC2LI1,DYNC2LI1 EXON Missense_V293M,Missense_V292M exm190158 2 44036892 [G/C] NM_001193464,NM_016008 DYNC2LI1,DYNC2LI1 EXON Missense_E349Q,Missense_E348Q exm190164 2 44040341 [A/G] NM_022436 ABCG5 EXON Missense_F624L exm190165 2 44040347 [T/C] NM_022436 ABCG5 EXON Missense_M622V exm190167 2 44040401 [C/G] NM_022436 ABCG5 EXON Missense_Q604E exm190172 2 44041634 [T/C] NM_022436 ABCG5 EXON Missense_G582R exm190173 2 44041645 [T/C] NM_022436 ABCG5 EXON Missense_N578S exm190181 2 44047136 [T/C] NM_022436 ABCG5 EXON Missense_I523V exm190182 2 44047153 [G/C] NM_022436 ABCG5 EXON Missense_T517S exm190200 2 44051148 [T/G] NM_022436 ABCG5 EXON Missense_N410H exm190204 2 44051166 [T/C] NM_022436 ABCG5 EXON Missense_V404I exm190206 2 44051205 [A/G] NM_022436 ABCG5 EXON Missense_L391F exm190208 2 44051213 [A/G] NM_022436 ABCG5 EXON Missense_T388M exm190223 2 44052147 [T/C] NM_022436 ABCG5 EXON Missense_K262R exm190225 2 44053537 [T/C] NM_022436 ABCG5 EXON Missense_R253H exm190226 2 44053544 [A/G] NM_022436 ABCG5 EXON Nonsense_Q251X exm190235 2 44055163 [T/C] NM_022436 ABCG5 EXON Missense_R198Q exm190248 2 44059163 [A/G] NM_022436 ABCG5 EXON Missense_F109L exm190257 2 44065056 [T/C] NM_022436 ABCG5 EXON Missense_R61Q exm190258 2 44065069 [T/C] NM_022436 ABCG5 EXON Missense_I57V exm190260 2 44065090 [A/G] NM_022436 ABCG5 EXON Missense_R50C exm190262 2 44065680 [A/C] NM_022436 ABCG5 EXON Missense_V47F exm190271 2 44065769 [A/C] NM_022436 ABCG5 EXON Missense_V17G exm190281 2 44066247 [G/C] NM_022437 ABCG8 EXON Missense_D19H exm190282 2 44066254 [T/C] NM_022437 ABCG8 EXON Missense_S21L exm190287 2 44071676 [A/G] NM_022437 ABCG8 EXON Missense_S32G exm190288 2 44071679 [A/G] NM_022437 ABCG8 EXON Missense_D33N exm190290 2 44071736 [G/C] NM_022437 ABCG8 EXON Missense_L52V exm190291 2 44071743 [A/G] NM_022437 ABCG8 EXON Missense_Y54C exm-rs4299376 2 44072576 [T/G] NM_022437 ABCG8 Silent exm190293 2 44073367 [A/G] NM_022437 ABCG8 EXON Missense_C80Y exm-rs41360247 2 44073656 [T/C] NM_022437 ABCG8 Silent exm-rs6544713 2 44073881 [T/C] NM_022437 ABCG8 Silent exm-rs4953023 2 44074000 [A/G] NM_022437 ABCG8 Silent exm-rs4245791 2 44074431 [T/C] NM_022437 ABCG8 Silent exm190313 2 44078891 [A/G] NM_022437 ABCG8 EXON Missense_R164Q exm2255376 2 44079501 [T/C] NM_022437 ABCG8 EXON Synonymous_D190D exm190319 2 44079542 [A/G] NM_022437 ABCG8 EXON Missense_R204H exm190322 2 44079559 [A/G] NM_022437 ABCG8 EXON Missense_V210M exm190340 2 44079831 [A/G] NM_022437 ABCG8 EXON Missense_R263Q exm190348 2 44079970 [A/C] NM_022437 ABCG8 EXON Nonsense_Y309X exm190357 2 44099233 [A/G] NM_022437 ABCG8 EXON Nonsense_W361X exm190358 2 44099243 [A/G] NM_022437 ABCG8 EXON Missense_T365A exm190359 2 44099244 [T/C] NM_022437 ABCG8 EXON Missense_T365M exm190362 2 44099394 [T/C] NM_022437 ABCG8 EXON Missense_P387L exm190366 2 44099435 [A/T] NM_022437 ABCG8 EXON Missense_T401S exm190368 2 44100939 [A/G] NM_022437 ABCG8 EXON Missense_N409D exm190370 2 44100948 [T/C] NM_022437 ABCG8 EXON Nonsense_R412X exm190371 2 44100999 [A/G] NM_022437 ABCG8 EXON Missense_M429V exm190385 2 44101570 [A/G] NM_022437 ABCG8 EXON Missense_Y479C exm190386 2 44101597 [A/C] NM_022437 ABCG8 EXON Missense_T488N exm190396 2 44102345 [T/C] NM_022437 ABCG8 EXON Missense_W517R exm190401 2 44102409 [T/G] NM_022437 ABCG8 EXON Missense_V538G exm190402 2 44102425 [T/G] NM_022437 ABCG8 EXON Missense_R543S exm190405 2 44102441 [A/G] NM_022437 ABCG8 EXON Missense_A549T exm190407 2 44102444 [A/G] NM_022437 ABCG8 EXON Missense_A550T exm190422 2 44104780 [T/C] NM_022437 ABCG8 EXON Missense_Y613H exm190427 2 44104924 [A/G] NM_022437 ABCG8 EXON Missense_V632I exm190428 2 44104925 [T/C] NM_022437 ABCG8 EXON Missense_V632A exm190429 2 44104952 [A/T] NM_022437 ABCG8 EXON Missense_Y641F exm190431 2 44104954 [A/G] NM_022437 ABCG8 EXON Missense_A642T exm190434 2 44104993 [A/G] NM_022437 ABCG8 EXON Missense_M655V exm190442 2 44115792 [T/C] NM_133259 LRPPRC EXON Missense_S1378G exm2023025 2 44116923 [T/C] NM_133259 LRPPRC EXON Missense_A1360T exm190457 2 44126673 [T/C] NM_133259 LRPPRC EXON Missense_Q1214R exm190461 2 44126697 [A/G] NM_133259 LRPPRC EXON Missense_S1206L exm190463 2 44126719 [T/C] NM_133259 LRPPRC EXON Missense_N1199D exm190465 2 44126729 [A/G] NM_133259 LRPPRC EXON Synonymous_A1195A exm2255377 2 44126729 [A/G] NM_133259 LRPPRC EXON Synonymous_A1195A exm2023039 2 44132918 [T/C] NM_133259 LRPPRC EXON Missense_A1093T exm190479 2 44139587 [T/C] NM_133259 LRPPRC EXON Missense_M1087V exm190488 2 44145400 [A/G] NM_133259 LRPPRC EXON Missense_P1012S exm2023046 2 44145469 [A/G] NM_133259 LRPPRC EXON Missense_R989C exm190501 2 44161911 [T/C] NM_133259 LRPPRC EXON Missense_T871A exm190504 2 44161953 [T/C] NM_133259 LRPPRC EXON Missense_R857G exm190518 2 44170979 [G/C] NM_133259 LRPPRC EXON Missense_T784R exm190523 2 44172534 [T/C] NM_133259 LRPPRC EXON Missense_V745I exm190531 2 44174455 [T/C] NM_133259 LRPPRC EXON Missense_E674K exm190534 2 44174907 [T/C] NM_133259 LRPPRC EXON Missense_H643R exm190546 2 44176742 [T/C] NM_133259 LRPPRC EXON Synonymous_T578T exm190551 2 44176798 [A/T] NM_133259 LRPPRC EXON Missense_I560L exm190566 2 44187733 [C/G] NM_133259 LRPPRC EXON Missense_A510G exm190570 2 44190783 [T/C] NM_133259 LRPPRC EXON Missense_T478A exm190571 2 44190789 [T/C] NM_133259 LRPPRC EXON Missense_T476A exm190578 2 44200814 [T/C] NM_133259 LRPPRC EXON Missense_G434D exm190580 2 44200820 [T/C] NM_133259 LRPPRC EXON Missense_E432G exm190617 2 44204170 [T/C] NM_133259 LRPPRC EXON Missense_A205T exm190619 2 44204298 [T/G] NM_133259 LRPPRC EXON Missense_N196T exm190621 2 44204337 [T/C] NM_133259 LRPPRC EXON Missense_D183G exm190645 2 44223046 [G/C] NM_133259 LRPPRC EXON Missense_A14G exm190652 2 44428390 [A/G] NM_001033556,NM_177968,NM_002706,NM_177969,NM_001033557 PPM1B,PPM1B,PPM1B,PPM1B,PPM1B EXON Missense_A18T,Missense_A18T,Missense_A18T,Silent,Missense_A18T exm190665 2 44428808 [A/G] NM_001033556,NM_177968,NM_002706,NM_177969,NM_001033557 PPM1B,PPM1B,PPM1B,PPM1B,PPM1B EXON Missense_Y157C,Missense_Y157C,Missense_Y157C,Silent,Missense_Y157C exm190666 2 44428819 [G/C] NM_001033556,NM_177968,NM_002706,NM_177969,NM_001033557 PPM1B,PPM1B,PPM1B,PPM1B,PPM1B EXON Missense_Q161E,Missense_Q161E,Missense_Q161E,Silent,Missense_Q161E exm190681 2 44429169 [G/C] NM_001033556,NM_177968,NM_002706,NM_177969,NM_001033557 PPM1B,PPM1B,PPM1B,PPM1B,PPM1B EXON Missense_D277E,Missense_D277E,Missense_D277E,Silent,Missense_D277E exm190686 2 44436470 [A/C] NM_001033556,NM_177968,NM_002706,NM_177969,NM_001033557 PPM1B,PPM1B,PPM1B,PPM1B,PPM1B EXON Missense_K323T,Silent,Silent,Silent,Silent exm190688 2 44436482 [T/C] NM_001033556,NM_177968,NM_002706,NM_177969,NM_001033557 PPM1B,PPM1B,PPM1B,PPM1B,PPM1B EXON Missense_F327S,Silent,Silent,Silent,Silent exm190692 2 44445157 [T/C] NM_177968,NM_002706,NM_177969,NM_001033557 PPM1B,PPM1B,PPM1B,PPM1B EXON Missense_M339T,Missense_M339T,Missense_M52T,Missense_M339T exm190694 2 44445185 [A/C] NM_177968,NM_002706,NM_177969,NM_001033557 PPM1B,PPM1B,PPM1B,PPM1B EXON Synonymous_P348P,Synonymous_P348P,Synonymous_P61P,Synonymous_P348P exm2255379 2 44445185 [A/C] NM_177968,NM_002706,NM_177969,NM_001033557 PPM1B,PPM1B,PPM1B,PPM1B EXON Synonymous_P348P,Synonymous_P348P,Synonymous_P61P,Synonymous_P348P exm190730 2 44502696 [A/G] NM_000341 SLC3A1 EXON Missense_R8G exm190741 2 44502915 [T/C] NM_000341 SLC3A1 EXON Missense_R81C exm190743 2 44502921 [T/C] NM_000341 SLC3A1 EXON Missense_R83C exm190745 2 44502961 [T/C] NM_000341 SLC3A1 EXON Missense_S96F exm190746 2 44502964 [T/C] NM_000341 SLC3A1 EXON Missense_V97A exm190748 2 44502979 [T/C] NM_000341 SLC3A1 EXON Missense_A102V exm190750 2 44502996 [A/G] NM_000341 SLC3A1 EXON Missense_I108V exm190759 2 44507990 [T/C] NM_000341 SLC3A1 EXON Missense_T189M exm190765 2 44508595 [A/G] NM_000341 SLC3A1 EXON Missense_R227Q exm190766 2 44508601 [A/G] NM_000341 SLC3A1 EXON Missense_R229Q exm190771 2 44513193 [G/C] NM_000341 SLC3A1 EXON Missense_S263T exm2269047 2 44524575 [T/C] NM_000341 SLC3A1 Silent exm190778 2 44527119 [T/C] NM_000341 SLC3A1 EXON Missense_R301W exm190780 2 44527153 [C/G] NM_000341 SLC3A1 EXON Missense_S312T exm190787 2 44528256 [A/G] NM_000341 SLC3A1 EXON Missense_G376S exm190799 2 44531412 [A/G] NM_000341 SLC3A1 EXON Missense_S423G exm190807 2 44539773 [T/C] NM_000341 SLC3A1 EXON Missense_Y461H exm190810 2 44539792 [T/C] NM_000341 SLC3A1 EXON Missense_M467T exm190814 2 44539860 [T/G] NM_000341 SLC3A1 EXON Missense_V490L exm190817 2 44539891 [T/C] NM_000341 SLC3A1 EXON Missense_I500T exm190819 2 44540983 [T/C] NM_000341 SLC3A1 EXON Missense_R504C exm190833 2 44547488 [A/G] NM_000341,NM_001171613,NM_001042386,NM_001042385,NM_001171606,NM_001171603,NM_001171617,NM_006036 SLC3A1,PREPL,PREPL,PREPL,PREPL,PREPL,PREPL,PREPL EXON Missense_D590N,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm190835 2 44547516 [T/C] NM_000341,NM_001171613,NM_001042386,NM_001042385,NM_001171606,NM_001171603,NM_001171617,NM_006036 SLC3A1,PREPL,PREPL,PREPL,PREPL,PREPL,PREPL,PREPL EXON Missense_F599S,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm190836 2 44547519 [A/G] NM_000341,NM_001171613,NM_001042386,NM_001042385,NM_001171606,NM_001171603,NM_001171617,NM_006036 SLC3A1,PREPL,PREPL,PREPL,PREPL,PREPL,PREPL,PREPL EXON Missense_G600E,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm2023179 2 44547546 [A/G] NM_000341,NM_001171613,NM_001042386,NM_001042385,NM_001171606,NM_001171603,NM_001171617,NM_006036 SLC3A1,PREPL,PREPL,PREPL,PREPL,PREPL,PREPL,PREPL EXON Missense_N609S,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm190841 2 44547566 [A/G] NM_000341,NM_001171613,NM_001042386,NM_001042385,NM_001171606,NM_001171603,NM_001171617,NM_006036 SLC3A1,PREPL,PREPL,PREPL,PREPL,PREPL,PREPL,PREPL EXON Missense_A616T,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm190843 2 44547574 [A/G] NM_000341,NM_001171613,NM_001042386,NM_001042385,NM_001171606,NM_001171603,NM_001171617,NM_006036 SLC3A1,PREPL,PREPL,PREPL,PREPL,PREPL,PREPL,PREPL EXON Missense_M618I,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm190844 2 44547594 [A/G] NM_000341,NM_001171613,NM_001042386,NM_001042385,NM_001171606,NM_001171603,NM_001171617,NM_006036 SLC3A1,PREPL,PREPL,PREPL,PREPL,PREPL,PREPL,PREPL EXON Missense_N625S,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm190845 2 44547602 [A/G] NM_000341,NM_001171613,NM_001042386,NM_001042385,NM_001171606,NM_001171603,NM_001171617,NM_006036 SLC3A1,PREPL,PREPL,PREPL,PREPL,PREPL,PREPL,PREPL EXON Missense_D628N,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm2023182 2 44547609 [A/G] NM_000341,NM_001171613,NM_001042386,NM_001042385,NM_001171606,NM_001171603,NM_001171617,NM_006036 SLC3A1,PREPL,PREPL,PREPL,PREPL,PREPL,PREPL,PREPL EXON Missense_G630D,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm2255381 2 44548506 [A/G] NM_001171613,NM_001042386,NM_001042385,NM_001171606,NM_001171603,NM_001171617,NM_006036 PREPL,PREPL,PREPL,PREPL,PREPL,PREPL,PREPL EXON Synonymous_L636L,Synonymous_L659L,Synonymous_L663L,Synonymous_L725L,Synonymous_L725L,Synonymous_L636L,Synonymous_L725L exm190860 2 44548557 [T/C] NM_001171613,NM_001042386,NM_001042385,NM_001171606,NM_001171603,NM_001171617,NM_006036 PREPL,PREPL,PREPL,PREPL,PREPL,PREPL,PREPL EXON Missense_E619K,Missense_E642K,Missense_E646K,Missense_E708K,Missense_E708K,Missense_E619K,Missense_E708K exm190877 2 44549869 [A/C] NM_001171613,NM_001042386,NM_001042385,NM_001171606,NM_001171603,NM_001171617,NM_006036 PREPL,PREPL,PREPL,PREPL,PREPL,PREPL,PREPL Silent,Silent,Silent,Silent,Silent,Silent,Silent exm190880 2 44549896 [A/G] NM_001171613,NM_001042386,NM_001042385,NM_001171606,NM_001171603,NM_001171617,NM_006036 PREPL,PREPL,PREPL,PREPL,PREPL,PREPL,PREPL EXON Missense_A576V,Missense_A599V,Missense_A603V,Missense_A665V,Missense_A665V,Missense_A576V,Missense_A665V exm190881 2 44549897 [T/C] NM_001171613,NM_001042386,NM_001042385,NM_001171606,NM_001171603,NM_001171617,NM_006036 PREPL,PREPL,PREPL,PREPL,PREPL,PREPL,PREPL EXON Missense_A576T,Missense_A599T,Missense_A603T,Missense_A665T,Missense_A665T,Missense_A576T,Missense_A665T exm2255382 2 44549967 [T/C] NM_001171613,NM_001042386,NM_001042385,NM_001171606,NM_001171603,NM_001171617,NM_006036 PREPL,PREPL,PREPL,PREPL,PREPL,PREPL,PREPL EXON Synonymous_A552A,Synonymous_A575A,Synonymous_A579A,Synonymous_A641A,Synonymous_A641A,Synonymous_A552A,Synonymous_A641A exm190891 2 44550433 [A/G] NM_001171613,NM_001042386,NM_001042385,NM_001171606,NM_001171603,NM_001171617,NM_006036 PREPL,PREPL,PREPL,PREPL,PREPL,PREPL,PREPL EXON Missense_R533C,Missense_R556C,Missense_R560C,Missense_R622C,Missense_R622C,Missense_R533C,Missense_R622C exm190892 2 44550435 [T/C] NM_001171613,NM_001042386,NM_001042385,NM_001171606,NM_001171603,NM_001171617,NM_006036 PREPL,PREPL,PREPL,PREPL,PREPL,PREPL,PREPL EXON Missense_K532R,Missense_K555R,Missense_K559R,Missense_K621R,Missense_K621R,Missense_K532R,Missense_K621R exm190897 2 44550528 [T/C] NM_001171613,NM_001042386,NM_001042385,NM_001171606,NM_001171603,NM_001171617,NM_006036 PREPL,PREPL,PREPL,PREPL,PREPL,PREPL,PREPL EXON Missense_N501S,Missense_N524S,Missense_N528S,Missense_N590S,Missense_N590S,Missense_N501S,Missense_N590S exm190912 2 44556203 [C/G] NM_001171613,NM_001042386,NM_001042385,NM_001171606,NM_001171603,NM_001171617,NM_006036 PREPL,PREPL,PREPL,PREPL,PREPL,PREPL,PREPL EXON Missense_D379H,Missense_D402H,Missense_D406H,Missense_D468H,Missense_D468H,Missense_D379H,Missense_D468H exm190921 2 44559717 [T/C] NM_001171613,NM_001042386,NM_001042385,NM_001171606,NM_001171603,NM_001171617,NM_006036 PREPL,PREPL,PREPL,PREPL,PREPL,PREPL,PREPL EXON Missense_I323V,Silent,Missense_I350V,Missense_I412V,Missense_I412V,Missense_I323V,Missense_I412V exm190923 2 44559767 [A/G] NM_001171613,NM_001042386,NM_001042385,NM_001171606,NM_001171603,NM_001171617,NM_006036 PREPL,PREPL,PREPL,PREPL,PREPL,PREPL,PREPL EXON Missense_M306T,Silent,Missense_M333T,Missense_M395T,Missense_M395T,Missense_M306T,Missense_M395T exm190943 2 44566426 [T/C] NM_001171613,NM_001042386,NM_001042385,NM_001171606,NM_001171603,NM_001171617,NM_006036 PREPL,PREPL,PREPL,PREPL,PREPL,PREPL,PREPL EXON Missense_V188M,Missense_V277M,Missense_V277M,Missense_V277M,Missense_V277M,Missense_V188M,Missense_V277M exm190945 2 44566467 [A/C] NM_001171613,NM_001042386,NM_001042385,NM_001171606,NM_001171603,NM_001171617,NM_006036 PREPL,PREPL,PREPL,PREPL,PREPL,PREPL,PREPL EXON Missense_R174L,Missense_R263L,Missense_R263L,Missense_R263L,Missense_R263L,Missense_R174L,Missense_R263L exm190952 2 44569591 [T/G] NM_001171613,NM_001042386,NM_001042385,NM_001171606,NM_001171603,NM_001171617,NM_006036 PREPL,PREPL,PREPL,PREPL,PREPL,PREPL,PREPL EXON Missense_K150N,Missense_K239N,Missense_K239N,Missense_K239N,Missense_K239N,Missense_K150N,Missense_K239N exm190971 2 44571084 [T/C] NM_001171613,NM_001042386,NM_001042385,NM_001171606,NM_001171603,NM_001171617,NM_006036 PREPL,PREPL,PREPL,PREPL,PREPL,PREPL,PREPL EXON Missense_N50S,Missense_N139S,Missense_N139S,Missense_N139S,Missense_N139S,Missense_N50S,Missense_N139S exm190979 2 44573414 [T/C] NM_001171613,NM_001042386,NM_001042385,NM_001171606,NM_001171603,NM_001171617,NM_006036 PREPL,PREPL,PREPL,PREPL,PREPL,PREPL,PREPL EXON Missense_N23S,Missense_N112S,Missense_N112S,Missense_N112S,Missense_N112S,Missense_N23S,Missense_N112S exm190981 2 44573442 [A/G] NM_001171613,NM_001042386,NM_001042385,NM_001171606,NM_001171603,NM_001171617,NM_006036 PREPL,PREPL,PREPL,PREPL,PREPL,PREPL,PREPL EXON Nonsense_Q14X,Nonsense_Q103X,Nonsense_Q103X,Nonsense_Q103X,Nonsense_Q103X,Nonsense_Q14X,Nonsense_Q103X exm190988 2 44586636 [A/C] NM_001171613,NM_001042386,NM_001042385,NM_001171606,NM_001171603,NM_001171617,NM_006036 PREPL,PREPL,PREPL,PREPL,PREPL,PREPL,PREPL EXON Silent,Missense_K73N,Missense_K73N,Missense_K73N,Missense_K73N,Silent,Missense_K73N exm190989 2 44586638 [T/C] NM_001171613,NM_001042386,NM_001042385,NM_001171606,NM_001171603,NM_001171617,NM_006036 PREPL,PREPL,PREPL,PREPL,PREPL,PREPL,PREPL EXON Silent,Missense_K73E,Missense_K73E,Missense_K73E,Missense_K73E,Silent,Missense_K73E exm2023244 2 44586653 [A/G] NM_001171613,NM_001042386,NM_001042385,NM_001171606,NM_001171603,NM_001171617,NM_006036 PREPL,PREPL,PREPL,PREPL,PREPL,PREPL,PREPL EXON Silent,Missense_R68W,Missense_R68W,Missense_R68W,Missense_R68W,Silent,Missense_R68W exm190993 2 44586728 [A/G] NM_001171613,NM_001042386,NM_001042385,NM_001171606,NM_001171603,NM_001171617,NM_006036 PREPL,PREPL,PREPL,PREPL,PREPL,PREPL,PREPL EXON Silent,Synonymous_L43L,Synonymous_L43L,Synonymous_L43L,Synonymous_L43L,Silent,Synonymous_L43L exm2255383 2 44586728 [A/G] NM_001171613,NM_001042386,NM_001042385,NM_001171606,NM_001171603,NM_001171617,NM_006036 PREPL,PREPL,PREPL,PREPL,PREPL,PREPL,PREPL EXON Silent,Synonymous_L43L,Synonymous_L43L,Synonymous_L43L,Synonymous_L43L,Silent,Synonymous_L43L exm190996 2 44586773 [A/C] NM_001171613,NM_001042386,NM_001042385,NM_001171606,NM_001171603,NM_001171617,NM_006036 PREPL,PREPL,PREPL,PREPL,PREPL,PREPL,PREPL EXON Silent,Missense_L28V,Missense_L28V,Missense_L28V,Missense_L28V,Silent,Missense_L28V exm190997 2 44586779 [T/G] NM_001171613,NM_001042386,NM_001042385,NM_001171606,NM_001171603,NM_001171617,NM_006036 PREPL,PREPL,PREPL,PREPL,PREPL,PREPL,PREPL EXON Silent,Missense_Q26K,Missense_Q26K,Missense_Q26K,Missense_Q26K,Silent,Missense_Q26K exm191014 2 44617382 [A/G] NM_024766 CAMKMT EXON Missense_H105R exm-rs2341459 2 44768202 [T/C] NM_024766 CAMKMT Silent exm191027 2 44934538 [T/G] NM_024766 CAMKMT EXON Missense_V165F exm191043 2 44993630 [T/C] NM_024766 CAMKMT EXON Missense_A275V exm2269269 2 45123765 [T/G] exm191067 2 45169352 [T/G] NM_005413 SIX3 EXON Missense_G37C exm2255384 2 45169612 [A/G] NM_005413 SIX3 EXON Synonymous_E123E exm2255385 2 45171842 [A/G] NM_005413 SIX3 EXON Synonymous_A314A exm191097 2 45233331 [T/C] NM_016932 SIX2 EXON Missense_N285S exm191100 2 45233394 [T/C] NM_016932 SIX2 EXON Missense_G264E exm191117 2 45233536 [T/C] NM_016932 SIX2 EXON Missense_T217A exm191138 2 45236124 [G/C] NM_016932 SIX2 EXON Missense_H42Q exm2269048 2 45258427 [T/C] exm2265145 2 45512908 [A/G] exm191143 2 45616486 [T/C] NM_018079 SRBD1 EXON Missense_R984Q exm191154 2 45620215 [A/T] NM_018079 SRBD1 EXON Missense_Q856L exm191155 2 45620237 [T/C] NM_018079 SRBD1 EXON Missense_E849K exm2023298 2 45640257 [T/C] NM_018079 SRBD1 EXON Missense_M837V exm191158 2 45640302 [G/C] NM_018079 SRBD1 EXON Missense_P822A exm191160 2 45640334 [T/C] NM_018079 SRBD1 EXON Missense_K811R exm191161 2 45640374 [A/C] NM_018079 SRBD1 EXON Missense_V798F exm-rs3213787 2 45646824 [A/G] NM_018079 SRBD1 Silent exm191198 2 45774694 [A/G] NM_018079 SRBD1 EXON Missense_A578V exm191201 2 45778330 [A/G] NM_018079 SRBD1 EXON Missense_R537C exm191204 2 45778372 [A/G] NM_018079 SRBD1 EXON Missense_R523W exm191211 2 45780845 [G/C] NM_018079 SRBD1 EXON Missense_R478S exm191212 2 45780852 [A/G] NM_018079 SRBD1 EXON Missense_F476S exm191228 2 45800449 [G/C] NM_018079 SRBD1 EXON Missense_S401C exm191229 2 45800450 [A/G] NM_018079 SRBD1 EXON Missense_S401P exm191233 2 45800470 [T/C] NM_018079 SRBD1 EXON Missense_R394K exm191235 2 45801773 [A/G] NM_018079 SRBD1 EXON Missense_R388W exm191237 2 45801791 [G/C] NM_018079 SRBD1 EXON Missense_D382H exm191239 2 45801809 [T/C] NM_018079 SRBD1 EXON Missense_M376V exm191241 2 45801853 [A/G] NM_018079 SRBD1 EXON Missense_T361M exm191242 2 45801854 [T/C] NM_018079 SRBD1 EXON Missense_T361A exm2023348 2 45807023 [T/C] NM_018079 SRBD1 EXON Missense_D355N exm2023350 2 45807037 [A/G] NM_018079 SRBD1 EXON Missense_S350L exm191252 2 45807104 [T/C] NM_018079 SRBD1 EXON Missense_R328G exm191263 2 45812838 [T/C] NM_018079 SRBD1 EXON Missense_I242V exm191264 2 45812861 [T/C] NM_018079 SRBD1 EXON Missense_R234H exm191266 2 45826596 [T/C] NM_018079 SRBD1 EXON Missense_M214V exm191270 2 45826643 [A/G] NM_018079 SRBD1 EXON Missense_P198L exm191272 2 45826663 [A/C] NM_018079 SRBD1 EXON Missense_Q191H exm191273 2 45826698 [T/C] NM_018079 SRBD1 EXON Missense_A180T exm191274 2 45826723 [A/G] NM_018079 SRBD1 EXON Synonymous_D171D exm191275 2 45826752 [T/C] NM_018079 SRBD1 EXON Missense_G162R exm191279 2 45826818 [T/C] NM_018079 SRBD1 EXON Missense_S140G exm191284 2 45826889 [C/G] NM_018079 SRBD1 EXON Missense_T116R exm191292 2 45829094 [T/C] NM_018079 SRBD1 EXON Missense_N70S exm191293 2 45829107 [A/G] NM_018079 SRBD1 EXON Missense_R66W exm191294 2 45829137 [A/G] NM_018079 SRBD1 EXON Missense_P56S exm2261272 2 45995181 [A/G] NM_005400 PRKCE Silent exm2255388 2 46023916 [T/C] NM_005400 PRKCE Silent exm191353 2 46234762 [A/G] NM_005400 PRKCE EXON Missense_N409D exm2255389 2 46285524 [T/C] NM_005400 PRKCE Silent exm191374 2 46313438 [A/G] NM_005400 PRKCE EXON Missense_R510Q exm-rs10495928 2 46353166 [A/G] NM_005400 PRKCE Silent exm-rs10168349 2 46360907 [C/G] NM_005400 PRKCE Silent exm191381 2 46372327 [T/C] NM_005400 PRKCE EXON Missense_T563M exm191390 2 46386763 [T/C] NM_005400 PRKCE EXON Missense_H647Y exm191391 2 46386784 [A/G] NM_005400 PRKCE EXON Missense_A654T exm191404 2 46411946 [A/G] NM_005400 PRKCE EXON Missense_E714K exm-rs7579899 2 46537604 [A/G] NM_001430 EPAS1 Silent exm191411 2 46574026 [A/G] NM_001430 EPAS1 EXON Missense_R14K exm191414 2 46574131 [A/C] NM_001430 EPAS1 EXON Missense_S49Y exm2237777 2 46574166 [A/G] NM_001430 EPAS1 EXON Missense_I61V exm191430 2 46583884 [A/G] NM_001430 EPAS1 EXON Missense_I131V exm191432 2 46587803 [A/G] NM_001430 EPAS1 EXON Missense_D161N exm191444 2 46588190 [A/G] NM_001430 EPAS1 EXON Missense_R247H exm191448 2 46597004 [T/G] NM_001430 EPAS1 EXON Missense_L273R exm191449 2 46597009 [T/C] NM_001430 EPAS1 EXON Missense_R275C exm191460 2 46603747 [A/G] NM_001430 EPAS1 EXON Missense_M368I exm191462 2 46603764 [T/A] NM_001430 EPAS1 EXON Missense_F374Y exm191463 2 46603773 [A/G] NM_001430 EPAS1 EXON Missense_S377N exm191464 2 46603778 [A/G] NM_001430 EPAS1 EXON Missense_K379E exm191473 2 46605083 [T/C] NM_001430 EPAS1 EXON Missense_P434S exm191481 2 46605845 [T/C] NM_001430 EPAS1 EXON Missense_I498T exm191503 2 46607645 [A/G] NM_001430 EPAS1 EXON Missense_G612R exm191513 2 46607774 [A/G] NM_001430 EPAS1 EXON Missense_G655R exm191515 2 46607784 [A/G] NM_001430 EPAS1 EXON Missense_R658H exm191517 2 46607808 [T/C] NM_001430 EPAS1 EXON Missense_P666L exm191527 2 46608828 [G/C] NM_001430 EPAS1 EXON Missense_E713D exm191530 2 46608860 [A/G] NM_001430 EPAS1 EXON Missense_G724E exm191533 2 46609187 [A/C] NM_001430 EPAS1 EXON Missense_P749H exm191534 2 46609196 [T/C] NM_001430 EPAS1 EXON Missense_P752L exm191537 2 46609572 [A/C] NM_001430 EPAS1 EXON Missense_T766P exm191538 2 46609573 [T/C] NM_001430 EPAS1 EXON Missense_T766I exm191540 2 46609629 [A/C] NM_001430 EPAS1 EXON Missense_P785T exm191544 2 46609703 [C/G] NM_001430 EPAS1 EXON Missense_Q809H exm-rs12623288 2 46634645 [A/G] exm191563 2 46707595 [G/C] NM_001145051 TMEM247 EXON Missense_E57Q exm191566 2 46707670 [T/C] NM_001145051 TMEM247 EXON Nonsense_Q82X exm191568 2 46707709 [A/G] NM_001145051 TMEM247 EXON Missense_T95A exm191572 2 46707808 [G/C] NM_001145051 TMEM247 EXON Missense_Q128E exm191574 2 46707827 [T/C] NM_001145051 TMEM247 EXON Missense_V134A exm191576 2 46707839 [T/C] NM_001145051 TMEM247 EXON Missense_L138P exm191578 2 46707886 [A/G] NM_001145051 TMEM247 EXON Missense_E154K exm191579 2 46707899 [A/G] NM_001145051 TMEM247 EXON Missense_R158H exm191589 2 46739216 [A/C] NM_080653 ATP6V1E2 EXON Missense_R212L exm191591 2 46739256 [A/G] NM_080653 ATP6V1E2 EXON Nonsense_R199X exm191601 2 46739442 [A/G] NM_080653 ATP6V1E2 EXON Missense_R137W exm191602 2 46739447 [T/C] NM_080653 ATP6V1E2 EXON Missense_R135H exm191606 2 46739489 [A/G] NM_080653 ATP6V1E2 EXON Missense_L121P exm191618 2 46739715 [T/C] NM_080653 ATP6V1E2 EXON Missense_V46M exm191619 2 46739720 [T/C] NM_080653 ATP6V1E2 EXON Missense_R44H exm2023488 2 46739727 [T/G] NM_080653 ATP6V1E2 EXON Missense_K42Q exm191635 2 46770910 [A/G] NM_012249 RHOQ EXON Missense_G54S exm2023498 2 46803380 [T/C] NM_012249 RHOQ EXON Missense_I119T exm191645 2 46803760 [A/G] NM_012249 RHOQ EXON Missense_I143V exm191669 2 46839434 [T/C] NM_173074,NM_002643 PIGF,PIGF EXON Missense_T124A,Missense_T124A exm191676 2 46842080 [T/C] NM_173074,NM_002643 PIGF,PIGF EXON Missense_H75R,Missense_H75R exm191677 2 46842119 [A/G] NM_173074,NM_002643 PIGF,PIGF EXON Missense_V62A,Missense_V62A exm191696 2 46846772 [G/C] NM_014171 CRIPT EXON Missense_G30A exm2269051 2 46883739 [T/C] exm191724 2 46985962 [A/G] NM_014011,NM_144949 SOCS5,SOCS5 EXON Missense_N98S,Missense_N98S exm191730 2 46986102 [A/T] NM_014011,NM_144949 SOCS5,SOCS5 EXON Missense_T145S,Missense_T145S exm2237785 2 46986156 [T/G] NM_014011,NM_144949 SOCS5,SOCS5 EXON Missense_D163Y,Missense_D163Y exm191736 2 46986202 [C/G] NM_014011,NM_144949 SOCS5,SOCS5 EXON Missense_R178T,Missense_R178T exm-rs76351433 2 47022543 [A/C] exm191789 2 47132628 [T/C] NM_001171511,NM_001171509,NM_139279,NM_001171510,NM_001171506,NM_001171507,NM_001171508 MCFD2,MCFD2,MCFD2,MCFD2,MCFD2,MCFD2,MCFD2 EXON Missense_A120T,Missense_A87T,Missense_A139T,Missense_A87T,Missense_A139T,Missense_A139T,Missense_A139T exm191794 2 47132701 [T/G] NM_001171511,NM_001171509,NM_139279,NM_001171510,NM_001171506,NM_001171507,NM_001171508 MCFD2,MCFD2,MCFD2,MCFD2,MCFD2,MCFD2,MCFD2 EXON Missense_E95D,Missense_E62D,Missense_E114D,Missense_E62D,Missense_E114D,Missense_E114D,Missense_E114D exm191811 2 47136186 [T/C] NM_001171511,NM_001171509,NM_139279,NM_001171510,NM_001171506,NM_001171507,NM_001171508 MCFD2,MCFD2,MCFD2,MCFD2,MCFD2,MCFD2,MCFD2 EXON Silent,Silent,Missense_D42G,Silent,Missense_D42G,Missense_D42G,Missense_D42G exm2023565 2 47168838 [C/G] NM_001171511,NM_001171508,NM_020458 MCFD2,MCFD2,TTC7A EXON Silent,Silent,Missense_S53T exm191824 2 47168856 [C/G] NM_001171511,NM_001171508,NM_020458 MCFD2,MCFD2,TTC7A EXON Silent,Silent,Missense_P59R exm191825 2 47177506 [G/C] NM_020458 TTC7A EXON Missense_D63E exm191834 2 47177645 [G/C] NM_020458 TTC7A EXON Missense_L110V exm191835 2 47177664 [T/C] NM_020458 TTC7A EXON Missense_S116L exm191837 2 47184062 [A/G] NM_020458 TTC7A EXON Missense_A145T exm2273786 2 47184066 [A/G] NM_020458 TTC7A EXON Missense_R146Q exm191852 2 47202150 [T/C] NM_020458 TTC7A EXON Missense_R186C exm191854 2 47202157 [A/G] NM_020458 TTC7A EXON Missense_R188H exm191857 2 47202186 [A/G] NM_020458 TTC7A EXON Missense_T198A exm191870 2 47220618 [A/G] NM_020458 TTC7A EXON Missense_R265Q exm191879 2 47221551 [A/G] NM_020458 TTC7A EXON Missense_Y300C exm191881 2 47221626 [A/G] NM_020458 TTC7A EXON Missense_R325Q exm191895 2 47233133 [A/G] NM_020458 TTC7A EXON Missense_A380T exm191904 2 47238519 [T/C] NM_020458 TTC7A EXON Missense_S446L exm191908 2 47238530 [A/G] NM_020458 TTC7A EXON Missense_V450M exm191910 2 47238545 [A/G] NM_020458 TTC7A EXON Missense_A455T exm-rs10194115 2 47240012 [T/G] NM_020458 TTC7A Silent exm191915 2 47249055 [A/G] NM_020458 TTC7A EXON Missense_G483R exm191922 2 47250568 [A/G] NM_020458 TTC7A EXON Missense_D511G exm191930 2 47251469 [C/G] NM_020458 TTC7A EXON Missense_V538L exm191933 2 47251490 [A/G] NM_020458 TTC7A EXON Missense_V545I exm2255391 2 47259467 [T/G] NM_020458 TTC7A Silent exm191945 2 47273468 [A/G] NM_020458 TTC7A EXON Missense_K606R exm191965 2 47277125 [A/G] NM_020458 TTC7A EXON Missense_T653A exm191966 2 47277182 [T/C] NM_020458 TTC7A EXON Missense_S672P exm191967 2 47277183 [T/C] NM_020458 TTC7A EXON Missense_S672F exm191974 2 47278947 [A/G] NM_020458 TTC7A EXON Missense_M694V exm191978 2 47278990 [T/C] NM_020458 TTC7A EXON Missense_T708I exm191981 2 47287925 [A/C] NM_020458 TTC7A EXON Missense_Q724K exm2023632 2 47288001 [A/G] NM_020458 TTC7A EXON Missense_Y749C exm191989 2 47288013 [A/G] NM_020458 TTC7A EXON Missense_R753Q exm192012 2 47314198 [A/C] NM_001163561 C2orf61 EXON Missense_M232I exm192017 2 47317452 [C/G] NM_001163561 C2orf61 EXON Missense_S194C exm192020 2 47357121 [A/G] NM_001163561,NM_173649 C2orf61,C2orf61 EXON Missense_R160C,Missense_R160C exm192033 2 47378441 [A/C] NM_001163561,NM_173649 C2orf61,C2orf61 EXON Missense_D119Y,Missense_D119Y exm192034 2 47378445 [G/C] NM_001163561,NM_173649 C2orf61,C2orf61 EXON Missense_F117L,Missense_F117L exm192041 2 47378611 [T/C] NM_001163561,NM_173649 C2orf61,C2orf61 EXON Missense_E62G,Missense_E62G exm192042 2 47378621 [T/C] NM_001163561,NM_173649 C2orf61,C2orf61 EXON Missense_T59A,Missense_T59A exm192051 2 47382342 [T/G] NM_001163561,NM_173649 C2orf61,C2orf61 EXON Missense_L17M,Missense_L17M exm-rs815815 2 47399064 [T/C] NM_001743 CALM2 Silent exm2269270 2 47454527 [T/C] exm192079 2 47596694 [A/C] NM_002354 EPCAM EXON Missense_T17K exm192089 2 47600704 [T/C] NM_002354 EPCAM EXON Missense_S60L exm192092 2 47601029 [G/C] NM_002354 EPCAM EXON Missense_Q89H exm2023679 2 47601060 [A/G] NM_002354 EPCAM EXON Missense_D100N exm192095 2 47601066 [A/G] NM_002354 EPCAM EXON Missense_S102G exm192099 2 47601106 [T/C] NM_002354 EPCAM EXON Missense_M115T exm192100 2 47601107 [A/G] NM_002354 EPCAM EXON Missense_M115I exm2023682 2 47602405 [C/G] NM_002354 EPCAM EXON Missense_R153T exm192105 2 47602434 [T/C] NM_002354 EPCAM EXON Missense_R163W exm192109 2 47604154 [A/G] NM_002354 EPCAM EXON Missense_A165T exm192110 2 47604176 [T/C] NM_002354 EPCAM EXON Missense_T172M exm192131 2 47607081 [A/G] NM_002354 EPCAM EXON Missense_I277M exm192133 2 47607108 [A/G] NM_002354 EPCAM EXON Synonymous_L286L exm192150 2 47630353 [T/C] NM_000251,NM_001258281 MSH2,MSH2 EXON Missense_T8M,Silent exm192151 2 47630385 [T/C] NM_000251,NM_001258281 MSH2,MSH2 EXON Missense_F19L,Silent exm2255392 2 47635667 [A/G] NM_000251,NM_001258281 MSH2,MSH2 EXON Synonymous_K113K,Synonymous_K47K exm192178 2 47637301 [T/G] NM_000251,NM_001258281 MSH2,MSH2 EXON Missense_I145M,Missense_I79M exm2237792 2 47637371 [A/G] NM_000251,NM_001258281 MSH2,MSH2 EXON Missense_I169V,Missense_I103V exm192184 2 47637423 [A/G] NM_000251,NM_001258281 MSH2,MSH2 EXON Missense_N186S,Missense_N120S exm192200 2 47641430 [T/C] NM_000251,NM_001258281 MSH2,MSH2 EXON Missense_A272V,Missense_A206V exm192212 2 47643457 [A/G] NM_000251,NM_001258281 MSH2,MSH2 EXON Missense_G322D,Missense_G256D exm192224 2 47656972 [T/C] NM_000251,NM_001258281 MSH2,MSH2 EXON Missense_L390F,Missense_L324F exm2237793 2 47657059 [A/C] NM_000251,NM_001258281 MSH2,MSH2 EXON Missense_Q419K,Missense_Q353K exm2023711 2 47657079 [A/G] NM_000251,NM_001258281 MSH2,MSH2 EXON Synonymous_E425E,Synonymous_E359E exm192261 2 47698172 [T/C] NM_000251,NM_001258281 MSH2,MSH2 EXON Missense_I577T,Missense_I511T exm192268 2 47702191 [A/G] NM_000251,NM_001258281 MSH2,MSH2 EXON Missense_N596S,Missense_N530S exm192274 2 47702290 [A/G] NM_000251,NM_001258281 MSH2,MSH2 EXON Missense_Q629R,Missense_Q563R exm192283 2 47703703 [A/G] NM_000251,NM_001258281 MSH2,MSH2 EXON Missense_I735V,Missense_I669V exm192292 2 47705637 [A/G] NM_000251,NM_001258281 MSH2,MSH2 EXON Missense_M813V,Missense_M747V exm2269053 2 47793217 [T/C] NM_022055 KCNK12 Silent exm-rs6544997 2 47844505 [A/G] exm192365 2 48018236 [T/G] NM_000179 MSH6 EXON Missense_S144I exm192371 2 48023066 [A/C] NM_000179 MSH6 EXON Missense_H164P exm192384 2 48025785 [A/C] NM_000179 MSH6 EXON Missense_E221D exm192396 2 48026064 [G/C] NM_000179 MSH6 EXON Missense_S314R exm192407 2 48026290 [A/G] NM_000179 MSH6 EXON Missense_D390N exm192422 2 48026630 [C/G] NM_000179 MSH6 EXON Missense_S503C exm192423 2 48026648 [T/C] NM_000179 MSH6 EXON Missense_V509A exm192436 2 48026989 [C/G] NM_000179 MSH6 EXON Missense_P623A exm192453 2 48027295 [A/G] NM_000179 MSH6 EXON Missense_I725V exm192469 2 48027683 [A/T] NM_000179 MSH6 EXON Missense_K854M exm192475 2 48027755 [T/C] NM_000179 MSH6 EXON Missense_V878A exm192477 2 48027789 [T/G] NM_000179 MSH6 EXON Missense_Q889H exm2023776 2 48030630 [T/C] NM_000179 MSH6 EXON Missense_P1082S exm192514 2 48030685 [C/G] NM_000179 MSH6 EXON Missense_T1100R exm192523 2 48032098 [T/A] NM_000179 MSH6 EXON Missense_E1163V exm2237802 2 48032099 [A/T] NM_000179 MSH6 EXON Missense_E1163D exm192533 2 48033423 [A/T] NM_000179 MSH6 EXON Missense_T1243S exm192541 2 48033496 [T/C] NM_000179 MSH6 EXON Missense_M1267T exm192543 2 48033613 [A/G] NM_000179 MSH6 EXON Missense_C1275Y exm192549 2 48033700 [A/G] NM_000179 MSH6 EXON Missense_R1304K exm192552 2 48033750 [A/G] NM_000179 MSH6 EXON Missense_R1321G exm192555 2 48033775 [T/C] NM_000179 MSH6 EXON Missense_S1329L exm192567 2 48036361 [T/C] NM_001190274,NM_025133 FBXO11,FBXO11 EXON Missense_S831G,Missense_S747G exm192608 2 48061766 [T/C] NM_001190274,NM_025133 FBXO11,FBXO11 EXON Missense_T296A,Missense_T212A exm192611 2 48063028 [T/C] NM_001190274,NM_025133 FBXO11,FBXO11 EXON Missense_E234K,Missense_E150K exm192618 2 48066624 [T/A] NM_001190274,NM_025133 FBXO11,FBXO11 EXON Missense_T126S,Missense_T42S exm2261275 2 48472968 [A/C] exm2269054 2 48484467 [T/C] exm192692 2 48681849 [T/C] NM_001135629,NR_024188,NM_001193475,NM_152994 PPP1R21,PPP1R21,PPP1R21,PPP1R21 EXON Missense_A81V,Silent,Missense_A81V,Missense_A81V exm192696 2 48681869 [A/G] NM_001135629,NR_024188,NM_001193475,NM_152994 PPP1R21,PPP1R21,PPP1R21,PPP1R21 EXON Missense_K88E,Silent,Missense_K88E,Missense_K88E exm192709 2 48686945 [A/G] NM_001135629,NR_024188,NM_001193475,NM_152994 PPP1R21,PPP1R21,PPP1R21,PPP1R21 EXON Missense_R143Q,Silent,Missense_R143Q,Missense_R143Q exm192723 2 48688278 [G/C] NM_001135629,NR_024188,NM_001193475,NM_152994 PPP1R21,PPP1R21,PPP1R21,PPP1R21 EXON Missense_Q201E,Silent,Missense_Q201E,Missense_Q201E exm192726 2 48688354 [T/C] NM_001135629,NR_024188,NM_001193475,NM_152994 PPP1R21,PPP1R21,PPP1R21,PPP1R21 EXON Missense_V226A,Silent,Missense_V226A,Missense_V226A exm192739 2 48692644 [A/G] NM_001135629,NR_024188,NM_001193475,NM_152994 PPP1R21,PPP1R21,PPP1R21,PPP1R21 EXON Missense_D254N,Silent,Missense_D254N,Missense_D254N exm192748 2 48692761 [A/G] NM_001135629,NR_024188,NM_001193475,NM_152994 PPP1R21,PPP1R21,PPP1R21,PPP1R21 EXON Missense_I293V,Silent,Missense_I293V,Missense_I293V exm192750 2 48698287 [A/G] NM_001135629,NR_024188,NM_001193475,NM_152994 PPP1R21,PPP1R21,PPP1R21,PPP1R21 EXON Missense_H320R,Silent,Missense_H320R,Missense_H320R exm192760 2 48701937 [A/G] NM_001135629,NR_024188,NM_001193475,NM_152994 PPP1R21,PPP1R21,PPP1R21,PPP1R21 EXON Missense_I402V,Silent,Missense_I402V,Missense_I402V exm192761 2 48701956 [T/C] NM_001135629,NR_024188,NM_001193475,NM_152994 PPP1R21,PPP1R21,PPP1R21,PPP1R21 EXON Missense_P408L,Silent,Missense_P408L,Missense_P408L exm192763 2 48707080 [C/G] NM_001135629,NR_024188,NM_001193475,NM_152994 PPP1R21,PPP1R21,PPP1R21,PPP1R21 EXON Missense_L415V,Silent,Missense_L415V,Missense_L415V exm192767 2 48707122 [C/G] NM_001135629,NR_024188,NM_001193475,NM_152994 PPP1R21,PPP1R21,PPP1R21,PPP1R21 EXON Missense_A429P,Silent,Missense_A429P,Missense_A429P exm192770 2 48707153 [A/G] NM_001135629,NR_024188,NM_001193475,NM_152994 PPP1R21,PPP1R21,PPP1R21,PPP1R21 EXON Missense_K439R,Silent,Missense_K439R,Missense_K439R exm192779 2 48718158 [T/G] NM_001135629,NR_024188,NM_001193475,NM_152994 PPP1R21,PPP1R21,PPP1R21,PPP1R21 EXON Missense_I483S,Silent,Missense_I483S,Missense_I483S exm192782 2 48718209 [A/G] NM_001135629,NR_024188,NM_001193475,NM_152994 PPP1R21,PPP1R21,PPP1R21,PPP1R21 EXON Missense_Y500C,Silent,Missense_Y500C,Missense_Y500C exm192792 2 48722897 [T/G] NM_001135629,NR_024188,NM_001193475,NM_152994 PPP1R21,PPP1R21,PPP1R21,PPP1R21 EXON Missense_G560V,Silent,Silent,Missense_G560V exm2255395 2 48725757 [T/C] NM_001135629,NR_024188,NM_001193475,NM_152994 PPP1R21,PPP1R21,PPP1R21,PPP1R21 EXON Synonymous_N606N,Silent,Synonymous_N575N,Synonymous_N606N exm192800 2 48725795 [A/G] NM_001135629,NR_024188,NM_001193475,NM_152994 PPP1R21,PPP1R21,PPP1R21,PPP1R21 EXON Missense_N619S,Silent,Missense_N588S,Missense_N619S exm192822 2 48737227 [A/C] NM_001135629,NR_024188,NM_001193475,NM_152994 PPP1R21,PPP1R21,PPP1R21,PPP1R21 EXON Missense_A720D,Silent,Missense_A678D,Missense_A709D exm192858 2 48807796 [A/C] NM_001198593,NM_001198595,NM_006873,NM_172311,NM_001198594 STON1-GTF2A1L,STON1,STON1,STON1-GTF2A1L,STON1-GTF2A1L EXON Missense_K8N,Missense_K8N,Missense_K8N,Missense_K8N,Missense_K8N exm192863 2 48807869 [A/G] NM_001198593,NM_001198595,NM_006873,NM_172311,NM_001198594 STON1-GTF2A1L,STON1,STON1,STON1-GTF2A1L,STON1-GTF2A1L EXON Missense_G33S,Missense_G33S,Missense_G33S,Missense_G33S,Missense_G33S exm192873 2 48807965 [A/C] NM_001198593,NM_001198595,NM_006873,NM_172311,NM_001198594 STON1-GTF2A1L,STON1,STON1,STON1-GTF2A1L,STON1-GTF2A1L EXON Missense_P65T,Missense_P65T,Missense_P65T,Missense_P65T,Missense_P65T exm192874 2 48807968 [A/G] NM_001198593,NM_001198595,NM_006873,NM_172311,NM_001198594 STON1-GTF2A1L,STON1,STON1,STON1-GTF2A1L,STON1-GTF2A1L EXON Missense_I66V,Missense_I66V,Missense_I66V,Missense_I66V,Missense_I66V exm192881 2 48808107 [A/G] NM_001198593,NM_001198595,NM_006873,NM_172311,NM_001198594 STON1-GTF2A1L,STON1,STON1,STON1-GTF2A1L,STON1-GTF2A1L EXON Missense_S112N,Missense_S112N,Missense_S112N,Missense_S112N,Missense_S112N exm192882 2 48808125 [T/G] NM_001198593,NM_001198595,NM_006873,NM_172311,NM_001198594 STON1-GTF2A1L,STON1,STON1,STON1-GTF2A1L,STON1-GTF2A1L EXON Missense_G118V,Missense_G118V,Missense_G118V,Missense_G118V,Missense_G118V exm192886 2 48808152 [G/C] NM_001198593,NM_001198595,NM_006873,NM_172311,NM_001198594 STON1-GTF2A1L,STON1,STON1,STON1-GTF2A1L,STON1-GTF2A1L EXON Missense_R127T,Missense_R127T,Missense_R127T,Missense_R127T,Missense_R127T exm2023936 2 48808283 [A/C] NM_001198593,NM_001198595,NM_006873,NM_172311,NM_001198594 STON1-GTF2A1L,STON1,STON1,STON1-GTF2A1L,STON1-GTF2A1L EXON Missense_P171T,Missense_P171T,Missense_P171T,Missense_P171T,Missense_P171T exm192891 2 48808309 [A/C] NM_001198593,NM_001198595,NM_006873,NM_172311,NM_001198594 STON1-GTF2A1L,STON1,STON1,STON1-GTF2A1L,STON1-GTF2A1L EXON Missense_D179E,Missense_D179E,Missense_D179E,Missense_D179E,Missense_D179E exm2023937 2 48808437 [A/G] NM_001198593,NM_001198595,NM_006873,NM_172311,NM_001198594 STON1-GTF2A1L,STON1,STON1,STON1-GTF2A1L,STON1-GTF2A1L EXON Missense_N222S,Missense_N222S,Missense_N222S,Missense_N222S,Missense_N222S exm192902 2 48808580 [A/C] NM_001198593,NM_001198595,NM_006873,NM_172311,NM_001198594 STON1-GTF2A1L,STON1,STON1,STON1-GTF2A1L,STON1-GTF2A1L EXON Missense_S270R,Missense_S270R,Missense_S270R,Missense_S270R,Missense_S270R exm192903 2 48808583 [A/C] NM_001198593,NM_001198595,NM_006873,NM_172311,NM_001198594 STON1-GTF2A1L,STON1,STON1,STON1-GTF2A1L,STON1-GTF2A1L EXON Missense_Q271K,Missense_Q271K,Missense_Q271K,Missense_Q271K,Missense_Q271K exm192913 2 48808774 [C/G] NM_001198593,NM_001198595,NM_006873,NM_172311,NM_001198594 STON1-GTF2A1L,STON1,STON1,STON1-GTF2A1L,STON1-GTF2A1L EXON Missense_K334N,Missense_K334N,Missense_K334N,Missense_K334N,Missense_K334N exm192918 2 48808883 [G/C] NM_001198593,NM_001198595,NM_006873,NM_172311,NM_001198594 STON1-GTF2A1L,STON1,STON1,STON1-GTF2A1L,STON1-GTF2A1L EXON Missense_D371H,Missense_D371H,Missense_D371H,Missense_D371H,Missense_D371H exm192923 2 48808999 [C/G] NM_001198593,NM_001198595,NM_006873,NM_172311,NM_001198594 STON1-GTF2A1L,STON1,STON1,STON1-GTF2A1L,STON1-GTF2A1L EXON Missense_N409K,Missense_N409K,Missense_N409K,Missense_N409K,Missense_N409K exm192928 2 48809038 [G/C] NM_001198593,NM_001198595,NM_006873,NM_172311,NM_001198594 STON1-GTF2A1L,STON1,STON1,STON1-GTF2A1L,STON1-GTF2A1L EXON Missense_N422K,Missense_N422K,Missense_N422K,Missense_N422K,Missense_N422K exm192930 2 48809144 [T/G] NM_001198593,NM_001198595,NM_006873,NM_172311,NM_001198594 STON1-GTF2A1L,STON1,STON1,STON1-GTF2A1L,STON1-GTF2A1L EXON Missense_L458V,Missense_L458V,Missense_L458V,Missense_L458V,Missense_L458V exm192932 2 48809168 [T/C] NM_001198593,NM_001198595,NM_006873,NM_172311,NM_001198594 STON1-GTF2A1L,STON1,STON1,STON1-GTF2A1L,STON1-GTF2A1L EXON Nonsense_R466X,Nonsense_R466X,Nonsense_R466X,Nonsense_R466X,Nonsense_R466X exm192933 2 48809205 [A/G] NM_001198593,NM_001198595,NM_006873,NM_172311,NM_001198594 STON1-GTF2A1L,STON1,STON1,STON1-GTF2A1L,STON1-GTF2A1L EXON Missense_K478R,Missense_K478R,Missense_K478R,Missense_K478R,Missense_K478R exm192936 2 48809304 [T/G] NM_001198593,NM_001198595,NM_006873,NM_172311,NM_001198594 STON1-GTF2A1L,STON1,STON1,STON1-GTF2A1L,STON1-GTF2A1L EXON Missense_R511L,Missense_R511L,Missense_R511L,Missense_R511L,Missense_R511L exm192941 2 48809385 [T/G] NM_001198593,NM_001198595,NM_006873,NM_172311,NM_001198594 STON1-GTF2A1L,STON1,STON1,STON1-GTF2A1L,STON1-GTF2A1L EXON Missense_G538V,Missense_G538V,Missense_G538V,Missense_G538V,Missense_G538V exm192949 2 48809445 [A/G] NM_001198593,NM_001198595,NM_006873,NM_172311,NM_001198594 STON1-GTF2A1L,STON1,STON1,STON1-GTF2A1L,STON1-GTF2A1L EXON Missense_Y558C,Missense_Y558C,Missense_Y558C,Missense_Y558C,Missense_Y558C exm192950 2 48809450 [T/G] NM_001198593,NM_001198595,NM_006873,NM_172311,NM_001198594 STON1-GTF2A1L,STON1,STON1,STON1-GTF2A1L,STON1-GTF2A1L EXON Missense_G560C,Missense_G560C,Missense_G560C,Missense_G560C,Missense_G560C exm192951 2 48809478 [A/G] NM_001198593,NM_001198595,NM_006873,NM_172311,NM_001198594 STON1-GTF2A1L,STON1,STON1,STON1-GTF2A1L,STON1-GTF2A1L EXON Missense_R569K,Missense_R569K,Missense_R569K,Missense_R569K,Missense_R569K exm192952 2 48809498 [T/C] NM_001198593,NM_001198595,NM_006873,NM_172311,NM_001198594 STON1-GTF2A1L,STON1,STON1,STON1-GTF2A1L,STON1-GTF2A1L EXON Missense_S576P,Missense_S576P,Missense_S576P,Missense_S576P,Missense_S576P exm192958 2 48809593 [T/G] NM_001198593,NM_001198595,NM_006873,NM_172311,NM_001198594 STON1-GTF2A1L,STON1,STON1,STON1-GTF2A1L,STON1-GTF2A1L EXON Missense_Q607H,Missense_Q607H,Missense_Q607H,Missense_Q607H,Missense_Q607H exm192959 2 48809609 [C/G] NM_001198593,NM_001198595,NM_006873,NM_172311,NM_001198594 STON1-GTF2A1L,STON1,STON1,STON1-GTF2A1L,STON1-GTF2A1L EXON Missense_P613A,Missense_P613A,Missense_P613A,Missense_P613A,Missense_P613A exm192964 2 48809682 [A/G] NM_001198593,NM_001198595,NM_006873,NM_172311,NM_001198594 STON1-GTF2A1L,STON1,STON1,STON1-GTF2A1L,STON1-GTF2A1L EXON Missense_R637Q,Missense_R637Q,Missense_R637Q,Missense_R637Q,Missense_R637Q exm192973 2 48818911 [A/G] NM_001198593,NM_001198595,NM_006873,NM_172311,NM_001198594 STON1-GTF2A1L,STON1,STON1,STON1-GTF2A1L,STON1-GTF2A1L EXON Missense_R684G,Missense_R684G,Missense_R684G,Missense_R684G,Missense_R684G exm2255396 2 48822381 [A/G] NM_001198593,NM_001198595,NM_006873,NM_172311,NM_001198594 STON1-GTF2A1L,STON1,STON1,STON1-GTF2A1L,STON1-GTF2A1L EXON Silent,Synonymous_K716K,Synonymous_K716K,Silent,Silent exm2023952 2 48822387 [T/G] NM_001198593,NM_001198595,NM_006873,NM_172311,NM_001198594 STON1-GTF2A1L,STON1,STON1,STON1-GTF2A1L,STON1-GTF2A1L EXON Silent,Missense_W718C,Missense_W718C,Silent,Silent exm192979 2 48822424 [G/C] NM_001198593,NM_001198595,NM_006873,NM_172311,NM_001198594 STON1-GTF2A1L,STON1,STON1,STON1-GTF2A1L,STON1-GTF2A1L EXON Silent,Missense_D731H,Missense_D731H,Silent,Silent exm193005 2 48873610 [T/A] NM_001198593,NM_172311,NM_001198594,NM_001193487,NM_006872 STON1-GTF2A1L,STON1-GTF2A1L,STON1-GTF2A1L,GTF2A1L,GTF2A1L EXON Missense_N840I,Missense_N840I,Missense_N793I,Missense_N102I,Missense_N136I exm193013 2 48873750 [A/G] NM_001198593,NM_172311,NM_001198594,NM_001193487,NM_006872 STON1-GTF2A1L,STON1-GTF2A1L,STON1-GTF2A1L,GTF2A1L,GTF2A1L EXON Missense_T887A,Missense_T887A,Missense_T840A,Missense_T149A,Missense_T183A exm193016 2 48873795 [A/G] NM_001198593,NM_172311,NM_001198594,NM_001193487,NM_006872 STON1-GTF2A1L,STON1-GTF2A1L,STON1-GTF2A1L,GTF2A1L,GTF2A1L EXON Missense_A902T,Missense_A902T,Missense_A855T,Missense_A164T,Missense_A198T exm193018 2 48873814 [T/C] NM_001198593,NM_172311,NM_001198594,NM_001193487,NM_006872 STON1-GTF2A1L,STON1-GTF2A1L,STON1-GTF2A1L,GTF2A1L,GTF2A1L EXON Missense_P908L,Missense_P908L,Missense_P861L,Missense_P170L,Missense_P204L exm193019 2 48873856 [T/C] NM_001198593,NM_172311,NM_001198594,NM_001193487,NM_006872 STON1-GTF2A1L,STON1-GTF2A1L,STON1-GTF2A1L,GTF2A1L,GTF2A1L EXON Missense_L922P,Missense_L922P,Missense_L875P,Missense_L184P,Missense_L218P exm193021 2 48873885 [T/G] NM_001198593,NM_172311,NM_001198594,NM_001193487,NM_006872 STON1-GTF2A1L,STON1-GTF2A1L,STON1-GTF2A1L,GTF2A1L,GTF2A1L EXON Missense_V932L,Missense_V932L,Missense_V885L,Missense_V194L,Missense_V228L exm193027 2 48873925 [A/G] NM_001198593,NM_172311,NM_001198594,NM_001193487,NM_006872 STON1-GTF2A1L,STON1-GTF2A1L,STON1-GTF2A1L,GTF2A1L,GTF2A1L EXON Missense_Y945C,Missense_Y945C,Missense_Y898C,Missense_Y207C,Missense_Y241C exm193029 2 48873978 [A/G] NM_001198593,NM_172311,NM_001198594,NM_001193487,NM_006872 STON1-GTF2A1L,STON1-GTF2A1L,STON1-GTF2A1L,GTF2A1L,GTF2A1L EXON Missense_N963D,Missense_N963D,Missense_N916D,Missense_N225D,Missense_N259D exm193032 2 48874060 [T/C] NM_001198593,NM_172311,NM_001198594,NM_001193487,NM_006872 STON1-GTF2A1L,STON1-GTF2A1L,STON1-GTF2A1L,GTF2A1L,GTF2A1L EXON Missense_A990V,Missense_A990V,Missense_A943V,Missense_A252V,Missense_A286V exm193035 2 48874146 [A/G] NM_001198593,NM_172311,NM_001198594,NM_001193487,NM_006872 STON1-GTF2A1L,STON1-GTF2A1L,STON1-GTF2A1L,GTF2A1L,GTF2A1L EXON Missense_I1019V,Missense_I1019V,Missense_I972V,Missense_I281V,Missense_I315V exm193042 2 48896894 [A/G] NM_001198593,NM_172311,NM_001198594,NM_001193487,NM_006872 STON1-GTF2A1L,STON1-GTF2A1L,STON1-GTF2A1L,GTF2A1L,GTF2A1L EXON Missense_V1042I,Missense_V1042I,Missense_V995I,Missense_V304I,Missense_V338I exm193043 2 48896897 [A/G] NM_001198593,NM_172311,NM_001198594,NM_001193487,NM_006872 STON1-GTF2A1L,STON1-GTF2A1L,STON1-GTF2A1L,GTF2A1L,GTF2A1L EXON Missense_T1043A,Missense_T1043A,Missense_T996A,Missense_T305A,Missense_T339A exm193044 2 48896937 [A/G] NM_001198593,NM_172311,NM_001198594,NM_001193487,NM_006872 STON1-GTF2A1L,STON1-GTF2A1L,STON1-GTF2A1L,GTF2A1L,GTF2A1L EXON Missense_S1056N,Missense_S1056N,Missense_S1009N,Missense_S318N,Missense_S352N exm2255397 2 48898753 [T/C] NM_001198593,NM_172311,NM_001198594,NM_001193487,NM_006872 STON1-GTF2A1L,STON1-GTF2A1L,STON1-GTF2A1L,GTF2A1L,GTF2A1L EXON Synonymous_D1125D,Synonymous_D1125D,Synonymous_D1078D,Synonymous_D387D,Synonymous_D421D exm193064 2 48906480 [T/C] NM_001198593,NM_172311,NM_001198594,NM_001193487,NM_006872 STON1-GTF2A1L,STON1-GTF2A1L,STON1-GTF2A1L,GTF2A1L,GTF2A1L EXON Silent,Nonsense_R1150X,Nonsense_R1103X,Nonsense_R412X,Nonsense_R446X exm193071 2 48914951 [T/C] NM_001198593,NM_000233 STON1-GTF2A1L,LHCGR EXON Silent,Missense_N662S exm193073 2 48914999 [T/C] NM_001198593,NM_000233 STON1-GTF2A1L,LHCGR EXON Silent,Missense_R646H exm193075 2 48915020 [T/C] NM_001198593,NM_000233 STON1-GTF2A1L,LHCGR EXON Silent,Missense_S639N exm193092 2 48915561 [T/C] NM_001198593,NM_000233 STON1-GTF2A1L,LHCGR EXON Silent,Missense_V459I exm193093 2 48915576 [T/C] NM_001198593,NM_000233 STON1-GTF2A1L,LHCGR EXON Silent,Missense_V454I exm2237813 2 48915767 [T/C] NM_001198593,NM_000233 STON1-GTF2A1L,LHCGR EXON Silent,Missense_K390R exm193104 2 48915926 [A/G] NM_001198593,NM_000233 STON1-GTF2A1L,LHCGR EXON Silent,Missense_L337S exm193108 2 48921375 [T/C] NM_001198593,NM_000233 STON1-GTF2A1L,LHCGR EXON Silent,Missense_N312S exm193110 2 48921438 [T/C] NM_001198593,NM_000233 STON1-GTF2A1L,LHCGR EXON Silent,Missense_N291S exm193116 2 48925820 [T/C] NM_001198593,NM_000233 STON1-GTF2A1L,LHCGR EXON Silent,Missense_N267S exm193120 2 48925913 [A/G] NM_001198593,NM_000233 STON1-GTF2A1L,LHCGR EXON Silent,Missense_A236V exm193125 2 48936112 [A/G] NM_001198593,NM_000233 STON1-GTF2A1L,LHCGR EXON Silent,Missense_R219C exm193128 2 48936145 [T/C] NM_001198593,NM_000233 STON1-GTF2A1L,LHCGR EXON Silent,Missense_V208I exm193132 2 48941162 [T/G] NM_001198593,NM_000233 STON1-GTF2A1L,LHCGR EXON Silent,Missense_Q190K exm193139 2 48950776 [A/T] NM_001198593,NM_000233 STON1-GTF2A1L,LHCGR EXON Silent,Missense_E148V exm193140 2 48950777 [A/C] NM_001198593,NM_000233 STON1-GTF2A1L,LHCGR EXON Silent,Nonsense_E148X exm193142 2 48950789 [T/C] NM_001198593,NM_000233 STON1-GTF2A1L,LHCGR EXON Silent,Missense_V144I exm193144 2 48952827 [T/C] NM_001198593,NM_000233 STON1-GTF2A1L,LHCGR EXON Silent,Missense_R124Q exm193145 2 48952861 [A/T] NM_001198593,NM_000233 STON1-GTF2A1L,LHCGR EXON Silent,Missense_Y113N exm-rs7591064 2 49177601 [T/C] exm193175 2 49189921 [T/C] NM_181446,NM_000145 FSHR,FSHR EXON Missense_S654N,Missense_S680N exm193191 2 49190276 [T/C] NM_181446,NM_000145 FSHR,FSHR EXON Missense_V536M,Missense_V562M exm193197 2 49190388 [G/C] NM_181446,NM_000145 FSHR,FSHR EXON Missense_S498R,Missense_S524R exm193206 2 49190630 [T/C] NM_181446,NM_000145 FSHR,FSHR EXON Missense_A418T,Missense_A444T exm193212 2 49190938 [A/G] NM_181446,NM_000145 FSHR,FSHR EXON Missense_V315A,Missense_V341A exm193220 2 49191041 [T/C] NM_181446,NM_000145 FSHR,FSHR EXON Missense_A281T,Missense_A307T exm2024021 2 49195836 [T/C] NM_181446,NM_000145 FSHR,FSHR Silent,Silent exm193223 2 49195844 [A/G] NM_181446,NM_000145 FSHR,FSHR EXON Missense_R257W,Missense_R283W exm2255400 2 49195905 [A/G] NM_181446,NM_000145 FSHR,FSHR EXON Synonymous_V236V,Synonymous_V262V exm-rs2268363 2 49201328 [A/G] NM_181446,NM_000145 FSHR,FSHR Silent,Silent exm193236 2 49210264 [A/G] NM_181446,NM_000145 FSHR,FSHR EXON Missense_A163V,Missense_A189V exm193239 2 49216144 [A/C] NM_181446,NM_000145 FSHR,FSHR EXON Silent,Missense_V166L exm193240 2 49216155 [T/C] NM_181446,NM_000145 FSHR,FSHR EXON Silent,Missense_R162K exm2269055 2 49222572 [T/G] NM_181446,NM_000145 FSHR,FSHR Silent,Silent exm193252 2 49247259 [A/C] NM_181446,NM_000145 FSHR,FSHR EXON Missense_D89Y,Missense_D89Y exm193258 2 49295373 [G/C] NM_181446,NM_000145 FSHR,FSHR EXON Missense_G70A,Missense_G70A exm2024050 2 49381533 [A/C] NM_181446,NM_000145 FSHR,FSHR EXON Missense_L8F,Missense_L8F exm2265146 2 49715021 [A/G] exm2261277 2 49909547 [A/C] exm-rs17039212 2 49955497 [A/C] exm2269056 2 50100835 [T/C] exm2273352 2 50148972 [T/C] NM_004801,NM_138735,NM_001135659 NRXN1,NRXN1,NRXN1 EXON Silent,Silent,Silent exm2024058 2 50280477 [A/T] NM_004801,NM_138735,NM_001135659 NRXN1,NRXN1,NRXN1 EXON Missense_T1324S,Missense_T289S,Missense_T1394S exm193302 2 50280508 [T/C] NM_004801,NM_138735,NM_001135659 NRXN1,NRXN1,NRXN1 EXON Missense_M1313I,Missense_M278I,Missense_M1383I exm193311 2 50318462 [A/T] NM_004801,NM_138735,NM_001135659 NRXN1,NRXN1,NRXN1 EXON Synonymous_A1239A,Synonymous_A204A,Synonymous_A1279A exm2237816 2 50318584 [T/C] NM_004801,NM_138735,NM_001135659 NRXN1,NRXN1,NRXN1 EXON Missense_A1199T,Missense_A164T,Missense_A1239T exm193327 2 50464066 [A/G] NM_004801,NM_138735,NM_001135659 NRXN1,NRXN1,NRXN1 EXON Missense_T1136M,Missense_T101M,Missense_T1176M exm2263892 2 50511020 [A/C] NM_004801,NM_138735,NM_001135659 NRXN1,NRXN1,NRXN1 Silent,Silent,Silent exm-rs1356888 2 50516018 [T/C] NM_004801,NM_138735,NM_001135659 NRXN1,NRXN1,NRXN1 Silent,Silent,Silent exm2261278 2 50565462 [T/C] NM_004801,NM_138735,NM_001135659 NRXN1,NRXN1,NRXN1 Silent,Silent,Silent exm193357 2 50724513 [A/C] NM_004801,NM_001135659 NRXN1,NRXN1 EXON Missense_S946I,Missense_S986I exm193369 2 50724817 [A/G] NM_004801,NM_001135659 NRXN1,NRXN1 EXON Missense_H845Y,Missense_H885Y exm-rs10176705 2 50744774 [T/C] NM_004801,NM_001135659 NRXN1,NRXN1 Silent,Silent exm193385 2 50765412 [T/G] NM_004801,NM_001135659 NRXN1,NRXN1 EXON Missense_L708I,Missense_L748I exm193387 2 50765489 [G/C] NM_004801,NM_001135659 NRXN1,NRXN1 EXON Missense_S682T,Missense_S722T exm193394 2 50765589 [T/C] NM_004801,NM_001135659 NRXN1,NRXN1 EXON Missense_I649V,Missense_I689V exm2024117 2 50779796 [A/G] NM_004801,NM_001135659 NRXN1,NRXN1 EXON Missense_I563T,Missense_I603T exm193415 2 50847195 [A/G] NM_004801,NM_001135659 NRXN1,NRXN1 EXON Missense_P429S,Missense_P469S exm2255404 2 51171962 [A/G] NM_004801,NM_001135659 NRXN1,NRXN1 Silent,Silent exm193437 2 51253562 [T/C] NM_004801,NM_001135659 NRXN1,NRXN1 EXON Silent,Missense_D273G exm2255405 2 51453079 [T/C] exm2261279 2 51723107 [T/C] exm-rs11563140 2 52010562 [A/G] exm2265148 2 52061087 [A/G] exm2269274 2 52390119 [T/C] exm2255407 2 52478836 [T/C] exm2263893 2 52883758 [A/C] exm-rs1160297 2 53237320 [C/G] exm-rs2357013 2 53266129 [T/C] exm2255409 2 53576769 [T/C] exm2265317 2 53609363 [A/G] exm193487 2 53897765 [A/G] NM_145863,NM_016115,NM_001201965,NM_001164165 ASB3,ASB3,ASB3,GPR75-ASB3 EXON Missense_R405C,Missense_R478C,Missense_R405C,Missense_R516C exm193490 2 53921023 [A/G] NM_145863,NM_016115,NM_001201965,NM_001164165 ASB3,ASB3,ASB3,GPR75-ASB3 EXON Missense_I383T,Missense_I456T,Missense_I383T,Missense_I494T exm193494 2 53921063 [A/C] NM_145863,NM_016115,NM_001201965,NM_001164165 ASB3,ASB3,ASB3,GPR75-ASB3 EXON Missense_S370A,Missense_S443A,Missense_S370A,Missense_S481A exm2024155 2 53921138 [T/C] NM_145863,NM_016115,NM_001201965,NM_001164165 ASB3,ASB3,ASB3,GPR75-ASB3 EXON Missense_S345G,Missense_S418G,Missense_S345G,Missense_S456G exm193500 2 53927427 [T/G] NM_145863,NM_016115,NM_001201965,NM_001164165 ASB3,ASB3,ASB3,GPR75-ASB3 EXON Missense_I334L,Missense_I407L,Missense_I334L,Missense_I445L exm2024157 2 53927562 [A/G] NM_145863,NM_016115,NM_001201965,NM_001164165 ASB3,ASB3,ASB3,GPR75-ASB3 EXON Missense_R289C,Missense_R362C,Missense_R289C,Missense_R400C exm193508 2 53927570 [A/G] NM_145863,NM_016115,NM_001201965,NM_001164165 ASB3,ASB3,ASB3,GPR75-ASB3 EXON Missense_S286L,Missense_S359L,Missense_S286L,Missense_S397L exm193520 2 53941627 [A/G] NM_145863,NM_016115,NM_001201965,NM_001164165 ASB3,ASB3,ASB3,GPR75-ASB3 EXON Missense_H219Y,Missense_H292Y,Missense_H219Y,Missense_H330Y exm193524 2 53941684 [T/C] NM_145863,NM_016115,NM_001201965,NM_001164165 ASB3,ASB3,ASB3,GPR75-ASB3 EXON Missense_A200T,Missense_A273T,Missense_A200T,Missense_A311T exm193529 2 53943803 [T/C] NM_145863,NM_016115,NM_001201965,NM_001164165 ASB3,ASB3,ASB3,GPR75-ASB3 EXON Missense_V155M,Missense_V228M,Missense_V155M,Missense_V266M exm193532 2 53943868 [T/C] NM_145863,NM_016115,NM_001201965,NM_001164165 ASB3,ASB3,ASB3,GPR75-ASB3 EXON Missense_N133S,Missense_N206S,Missense_N133S,Missense_N244S exm193535 2 53955850 [T/C] NM_145863,NM_016115,NM_001201965,NM_001164165 ASB3,ASB3,ASB3,GPR75-ASB3 EXON Synonymous_S128S,Synonymous_S201S,Synonymous_S128S,Synonymous_S239S exm193537 2 53955867 [T/C] NM_145863,NM_016115,NM_001201965,NM_001164165 ASB3,ASB3,ASB3,GPR75-ASB3 EXON Missense_S123G,Missense_S196G,Missense_S123G,Missense_S234G exm193545 2 53955982 [A/T] NM_145863,NM_016115,NM_001201965,NM_001164165 ASB3,ASB3,ASB3,GPR75-ASB3 EXON Missense_E84D,Missense_E157D,Missense_E84D,Missense_E195D exm2269060 2 53958136 [T/C] NM_145863,NM_016115,NM_001201965,NM_001164165 ASB3,ASB3,ASB3,GPR75-ASB3 Silent,Silent,Silent,Silent exm193569 2 53992622 [C/G] NM_145863,NM_016115,NM_001201965,NM_001164165 ASB3,ASB3,ASB3,GPR75-ASB3 EXON Silent,Missense_L30V,Silent,Missense_L68V exm193570 2 53992630 [T/C] NM_145863,NM_016115,NM_001201965,NM_001164165 ASB3,ASB3,ASB3,GPR75-ASB3 EXON Silent,Missense_R27K,Silent,Missense_R65K exm193572 2 53992675 [C/G] NM_145863,NM_016115,NM_001201965,NM_001164165 ASB3,ASB3,ASB3,GPR75-ASB3 EXON Silent,Missense_S12C,Silent,Missense_S50C exm193576 2 53994929 [A/G] NM_145863,NM_016115,NM_001201965,NM_001164165,NM_001008708 ASB3,ASB3,ASB3,GPR75-ASB3,CHAC2 EXON Silent,Silent,Silent,Silent,Silent exm193580 2 53995049 [T/C] NM_145863,NM_016115,NM_001201965,NM_001164165,NM_001008708 ASB3,ASB3,ASB3,GPR75-ASB3,CHAC2 EXON Silent,Silent,Silent,Silent,Missense_L9P exm2276904 2 53995090 [A/G] NM_145863,NM_016115,NM_001201965,NM_001164165,NM_001008708 ASB3,ASB3,ASB3,GPR75-ASB3,CHAC2 EXON Silent,Silent,Silent,Silent,Missense_G23R exm193603 2 54001442 [T/C] NM_145863,NM_016115,NM_001201965,NM_001164165,NM_001008708 ASB3,ASB3,ASB3,GPR75-ASB3,CHAC2 EXON Silent,Silent,Silent,Silent,Missense_T112I exm193607 2 54001561 [A/G] NM_145863,NM_016115,NM_001201965,NM_001164165,NM_001008708 ASB3,ASB3,ASB3,GPR75-ASB3,CHAC2 EXON Silent,Silent,Silent,Silent,Missense_I152V exm193610 2 54001589 [T/A] NM_145863,NM_016115,NM_001201965,NM_001164165,NM_001008708 ASB3,ASB3,ASB3,GPR75-ASB3,CHAC2 EXON Silent,Silent,Silent,Silent,Missense_D161V exm193613 2 54001609 [T/G] NM_145863,NM_016115,NM_001201965,NM_001164165,NM_001008708 ASB3,ASB3,ASB3,GPR75-ASB3,CHAC2 EXON Silent,Silent,Silent,Silent,Nonsense_E168X exm193616 2 54001636 [A/G] NM_145863,NM_016115,NM_001201965,NM_001164165,NM_001008708 ASB3,ASB3,ASB3,GPR75-ASB3,CHAC2 EXON Silent,Silent,Silent,Silent,Missense_G177R exm193633 2 54023086 [T/A] NM_001164165,NM_015701,NM_001127397,NM_001127398 GPR75-ASB3,ERLEC1,ERLEC1,ERLEC1 EXON Silent,Missense_Y95F,Missense_Y95F,Missense_Y95F exm193634 2 54023088 [A/C] NM_001164165,NM_015701,NM_001127397,NM_001127398 GPR75-ASB3,ERLEC1,ERLEC1,ERLEC1 EXON Silent,Missense_K96Q,Missense_K96Q,Missense_K96Q exm2024196 2 54023133 [A/G] NM_001164165,NM_015701,NM_001127397,NM_001127398 GPR75-ASB3,ERLEC1,ERLEC1,ERLEC1 EXON Silent,Missense_S111G,Missense_S111G,Missense_S111G exm193650 2 54028558 [G/C] NM_001164165,NM_015701,NM_001127397,NM_001127398 GPR75-ASB3,ERLEC1,ERLEC1,ERLEC1 EXON Silent,Missense_Q184E,Missense_Q184E,Missense_Q184E exm193652 2 54028714 [A/G] NM_001164165,NM_015701,NM_001127397,NM_001127398 GPR75-ASB3,ERLEC1,ERLEC1,ERLEC1 EXON Silent,Missense_V236I,Missense_V236I,Missense_V236I exm193653 2 54028744 [G/C] NM_001164165,NM_015701,NM_001127397,NM_001127398 GPR75-ASB3,ERLEC1,ERLEC1,ERLEC1 EXON Silent,Missense_H246D,Missense_H246D,Missense_H246D exm193662 2 54035493 [A/G] NM_001164165,NM_015701,NM_001127397,NM_001127398 GPR75-ASB3,ERLEC1,ERLEC1,ERLEC1 EXON Silent,Missense_I313V,Missense_I313V,Silent exm193663 2 54035508 [G/C] NM_001164165,NM_015701,NM_001127397,NM_001127398 GPR75-ASB3,ERLEC1,ERLEC1,ERLEC1 EXON Silent,Missense_V318L,Missense_V318L,Silent exm193665 2 54035538 [A/C] NM_001164165,NM_015701,NM_001127397,NM_001127398 GPR75-ASB3,ERLEC1,ERLEC1,ERLEC1 EXON Silent,Missense_K328Q,Missense_K328Q,Silent exm193673 2 54036357 [A/G] NM_001164165,NM_015701,NM_001127397,NM_001127398 GPR75-ASB3,ERLEC1,ERLEC1,ERLEC1 EXON Silent,Missense_G350S,Missense_G350S,Missense_G296S exm193684 2 54040161 [A/C] NM_001164165,NM_015701,NM_001127397,NM_001127398 GPR75-ASB3,ERLEC1,ERLEC1,ERLEC1 EXON Silent,Missense_N393H,Missense_N393H,Missense_N339H exm193685 2 54040165 [T/C] NM_001164165,NM_015701,NM_001127397,NM_001127398 GPR75-ASB3,ERLEC1,ERLEC1,ERLEC1 EXON Silent,Missense_T394I,Missense_T394I,Missense_T340I exm193687 2 54040204 [T/C] NM_001164165,NM_015701,NM_001127397,NM_001127398 GPR75-ASB3,ERLEC1,ERLEC1,ERLEC1 EXON Silent,Missense_T407I,Missense_T407I,Missense_T353I exm193691 2 54042016 [T/C] NM_001164165,NM_015701,NM_001127397,NM_001127398 GPR75-ASB3,ERLEC1,ERLEC1,ERLEC1 EXON Silent,Missense_P442S,Missense_P416S,Missense_P388S exm193695 2 54045102 [A/G] NM_001164165,NM_015701,NM_001127397,NM_001127398 GPR75-ASB3,ERLEC1,ERLEC1,ERLEC1 EXON Silent,Missense_N483S,Missense_N457S,Missense_N429S exm2237823 2 54080306 [T/G] NM_001164165,NM_006794 GPR75-ASB3,GPR75 EXON Silent,Missense_T530P exm2024225 2 54080522 [A/G] NM_001164165,NM_006794 GPR75-ASB3,GPR75 EXON Silent,Missense_P458S exm193711 2 54080572 [A/G] NM_001164165,NM_006794 GPR75-ASB3,GPR75 EXON Silent,Missense_F441S exm193717 2 54080702 [A/C] NM_001164165,NM_006794 GPR75-ASB3,GPR75 EXON Silent,Missense_F398V exm193725 2 54080850 [T/G] NM_001164165,NM_006794 GPR75-ASB3,GPR75 EXON Silent,Missense_S348R exm193736 2 54081088 [A/G] NM_001164165,NM_006794 GPR75-ASB3,GPR75 EXON Silent,Missense_P269L exm193739 2 54081160 [A/T] NM_001164165,NM_006794 GPR75-ASB3,GPR75 EXON Silent,Missense_D245V exm193753 2 54081416 [A/C] NM_001164165,NM_006794 GPR75-ASB3,GPR75 EXON Silent,Missense_C160G exm193758 2 54081461 [A/G] NM_001164165,NM_006794 GPR75-ASB3,GPR75 EXON Silent,Missense_R145W exm193765 2 54081548 [T/C] NM_001164165,NM_006794 GPR75-ASB3,GPR75 EXON Silent,Missense_A116T exm193770 2 54081660 [C/G] NM_001164165,NM_006794 GPR75-ASB3,GPR75 EXON Silent,Missense_N78K exm193771 2 54081689 [T/C] NM_001164165,NM_006794 GPR75-ASB3,GPR75 EXON Silent,Missense_D69N exm2024236 2 54081815 [T/C] NM_001164165,NM_006794 GPR75-ASB3,GPR75 EXON Silent,Missense_T27A exm193773 2 54081823 [T/C] NM_001164165,NM_006794 GPR75-ASB3,GPR75 EXON Silent,Missense_G24E exm193784 2 54093901 [T/C] NM_014614 PSME4 EXON Missense_D1794N exm193788 2 54094013 [A/C] NM_014614 PSME4 EXON Missense_L1756F exm193789 2 54096528 [T/C] NM_014614 PSME4 EXON Missense_T1750A exm193795 2 54101619 [T/C] NM_014614 PSME4 EXON Missense_S1653G exm193814 2 54115949 [T/C] NM_014614 PSME4 EXON Missense_E1433K exm193819 2 54119987 [T/C] NM_014614 PSME4 EXON Missense_I1383M exm193820 2 54120025 [T/A] NM_014614 PSME4 EXON Missense_S1371T exm193823 2 54120827 [T/C] NM_014614 PSME4 EXON Missense_R1341H exm193824 2 54120888 [C/G] NM_014614 PSME4 EXON Missense_Q1321E exm193830 2 54122740 [G/C] NM_014614 PSME4 EXON Missense_W1274C exm193834 2 54122796 [T/C] NM_014614 PSME4 EXON Missense_I1256V exm193847 2 54125456 [C/G] NM_014614 PSME4 EXON Missense_G1153A exm193852 2 54127040 [T/C] NM_014614 PSME4 EXON Missense_E1134K exm2237828 2 54131247 [A/T] NM_014614 PSME4 EXON Missense_Y997F exm193878 2 54135468 [T/C] NM_014614 PSME4 EXON Missense_M925V exm193880 2 54135702 [T/C] NM_014614 PSME4 EXON Missense_N877S exm193885 2 54135936 [T/C] NM_014614 PSME4 EXON Missense_I872V exm193892 2 54146292 [T/C] NM_014614 PSME4 EXON Missense_N838D exm193906 2 54148115 [A/G] NM_014614 PSME4 EXON Missense_L725F exm193940 2 54159861 [T/C] NM_014614 PSME4 EXON Missense_G332S exm193945 2 54161756 [T/C] NM_014614 PSME4 EXON Missense_I315V exm193960 2 54164528 [T/C] NM_014614 PSME4 EXON Missense_K232R exm193977 2 54197829 [A/C] NM_014614 PSME4 EXON Missense_E31D exm193994 2 54342846 [T/C] NM_138448 ACYP2 EXON Missense_A4V exm193999 2 54362591 [T/A] NM_138448 ACYP2 EXON Synonymous_G20G exm194002 2 54365802 [A/G] NM_138448 ACYP2 EXON Missense_I34M exm194017 2 54482136 [T/C] NM_138448,NM_001003937 ACYP2,TSPYL6 EXON Silent,Missense_E385K exm194032 2 54482553 [A/G] NM_138448,NM_001003937 ACYP2,TSPYL6 EXON Silent,Missense_R246C exm194056 2 54482952 [T/A] NM_138448,NM_001003937 ACYP2,TSPYL6 EXON Silent,Missense_N113Y exm194058 2 54482964 [T/C] NM_138448,NM_001003937 ACYP2,TSPYL6 EXON Silent,Missense_G109S exm194061 2 54483001 [G/C] NM_138448,NM_001003937 ACYP2,TSPYL6 EXON Silent,Missense_E96D exm194067 2 54483072 [T/C] NM_138448,NM_001003937 ACYP2,TSPYL6 EXON Silent,Missense_I73V exm194069 2 54483080 [A/G] NM_138448,NM_001003937 ACYP2,TSPYL6 EXON Silent,Missense_T70I exm194071 2 54483096 [T/C] NM_138448,NM_001003937 ACYP2,TSPYL6 EXON Silent,Missense_A65T exm194073 2 54483110 [A/G] NM_138448,NM_001003937 ACYP2,TSPYL6 EXON Silent,Missense_A60V exm194075 2 54483137 [A/G] NM_138448,NM_001003937 ACYP2,TSPYL6 EXON Silent,Missense_P51L exm194085 2 54483272 [A/C] NM_138448,NM_001003937 ACYP2,TSPYL6 EXON Silent,Missense_S6I exm194087 2 54483287 [A/G] NM_138448,NM_001003937 ACYP2,TSPYL6 EXON Silent,Missense_M1T exm194088 2 54483288 [T/C] NM_138448,NM_001003937 ACYP2,TSPYL6 EXON Silent,Missense_M1V exm194103 2 54558114 [T/C] NM_001100396 C2orf73 EXON Missense_M1T exm194107 2 54561964 [A/C] NM_001100396 C2orf73 EXON Missense_I13L exm194108 2 54562012 [A/C] NM_001100396 C2orf73 EXON Missense_H29N exm194109 2 54562069 [T/C] NM_001100396 C2orf73 EXON Missense_R48C exm194114 2 54570905 [T/C] NM_001100396 C2orf73 EXON Missense_P95S exm194119 2 54570951 [T/C] NM_001100396 C2orf73 EXON Missense_S110L exm2273788 2 54586189 [T/C] NM_001100396 C2orf73 EXON Missense_P161L exm194134 2 54587451 [A/G] NM_001100396 C2orf73 EXON Missense_K206E exm194136 2 54587521 [A/G] NM_001100396 C2orf73 EXON Missense_Q229R exm194137 2 54587560 [A/T] NM_001100396 C2orf73 EXON Missense_D242V exm194141 2 54587596 [T/C] NM_001100396 C2orf73 EXON Missense_P254L exm194144 2 54587647 [T/C] NM_001100396 C2orf73 EXON Missense_A271V exm194145 2 54587659 [C/G] NM_001100396 C2orf73 EXON Missense_R275T exm194147 2 54587676 [T/C] NM_001100396 C2orf73 EXON Missense_P281S exm2261282 2 54615526 [A/G] exm2269061 2 54630902 [T/G] exm-rs11898505 2 54684557 [A/G] NM_003128 SPTBN1 Silent exm194210 2 54853229 [T/C] NM_003128,NM_178313 SPTBN1,SPTBN1 EXON Missense_A501V,Missense_A488V exm194230 2 54856406 [T/C] NM_003128,NM_178313 SPTBN1,SPTBN1 EXON Missense_S712L,Missense_S699L exm2237832 2 54856421 [A/G] NM_003128,NM_178313 SPTBN1,SPTBN1 EXON Missense_E717G,Missense_E704G exm2237833 2 54856585 [A/G] NM_003128,NM_178313 SPTBN1,SPTBN1 EXON Missense_V772M,Missense_V759M exm194252 2 54856888 [A/G] NM_003128,NM_178313 SPTBN1,SPTBN1 EXON Missense_N873D,Missense_N860D exm194269 2 54858253 [T/G] NM_003128,NM_178313 SPTBN1,SPTBN1 EXON Missense_E1023D,Missense_E1010D exm194299 2 54859815 [A/G] NM_003128,NM_178313 SPTBN1,SPTBN1 EXON Missense_N1226S,Missense_N1213S exm194308 2 54870254 [A/C] NM_003128,NM_178313 SPTBN1,SPTBN1 EXON Missense_D1331E,Missense_D1318E exm194367 2 54876930 [T/C] NM_003128,NM_178313 SPTBN1,SPTBN1 EXON Missense_I1794T,Missense_I1781T exm194370 2 54877014 [A/G] NM_003128,NM_178313 SPTBN1,SPTBN1 EXON Missense_Q1822R,Missense_Q1809R exm194390 2 54882221 [T/C] NM_003128,NM_178313 SPTBN1,SPTBN1 EXON Missense_V1946A,Missense_V1933A exm194402 2 54885068 [A/G] NM_003128,NM_178313 SPTBN1,SPTBN1 EXON Missense_R2043Q,Missense_R2030Q exm194417 2 54886361 [T/C] NM_003128,NM_178313 SPTBN1,SPTBN1 EXON Missense_P2105L,Missense_P2092L exm194418 2 54886366 [A/G] NM_003128,NM_178313 SPTBN1,SPTBN1 EXON Missense_T2107A,Missense_T2094A exm194438 2 54891725 [A/G] NM_003128 SPTBN1 EXON Missense_A2186T exm2237837 2 54894741 [A/G] NM_003128 SPTBN1 EXON Synonymous_R2278R exm194452 2 54895570 [T/C] NM_003128 SPTBN1 EXON Missense_T2320M exm194457 2 54895611 [A/G] NM_003128 SPTBN1 EXON Missense_V2334I exm2255414 2 54974485 [A/G] NM_001039753 EML6 Silent exm194469 2 55054839 [A/G] NM_001039753 EML6 EXON Missense_Y221C exm194472 2 55056495 [T/C] NM_001039753 EML6 EXON Missense_M243T exm194481 2 55077335 [A/G] NM_001039753 EML6 EXON Missense_R475Q exm194489 2 55080983 [G/C] NM_001039753 EML6 EXON Missense_L550V exm2255415 2 55093956 [T/C] NM_001039753 EML6 EXON Synonymous_H662H exm194517 2 55096488 [A/G] NM_001039753 EML6 EXON Missense_Y741C exm194521 2 55118288 [A/G] NM_001039753 EML6 EXON Missense_A846T exm194526 2 55119771 [A/T] NM_001039753 EML6 EXON Missense_F907Y exm194527 2 55122061 [A/G] NM_001039753 EML6 EXON Missense_T918A exm194530 2 55122122 [G/C] NM_001039753 EML6 EXON Missense_T938S exm194540 2 55130225 [T/G] NM_001039753 EML6 EXON Missense_V1057F exm2237839 2 55130508 [T/A] NM_001039753 EML6 EXON Missense_D1093V exm194545 2 55130563 [A/C] NM_001039753 EML6 EXON Missense_N1111K exm194552 2 55143907 [A/G] NM_001039753 EML6 EXON Missense_I1170M exm194561 2 55144046 [A/G] NM_001039753 EML6 EXON Missense_V1217I exm194571 2 55155592 [T/C] NM_001039753 EML6 EXON Missense_T1273I exm2237840 2 55155636 [T/G] NM_001039753 EML6 EXON Missense_V1288L exm-rs6726292 2 55156630 [A/G] NM_001039753 EML6 Silent exm194596 2 55185013 [C/G] NM_001039753 EML6 EXON Missense_V1525L exm194599 2 55185082 [A/G] NM_001039753 EML6 EXON Missense_G1548R exm194611 2 55189686 [A/G] NM_001039753 EML6 EXON Missense_G1666R exm194655 2 55209766 [C/G] NM_020532,NM_153828,NM_207520,NM_007008,NM_207521 RTN4,RTN4,RTN4,RTN4,RTN4 EXON Missense_A1082G,Missense_A263G,Missense_A282G,Missense_A89G,Missense_A876G exm194664 2 55237249 [A/C] NM_020532,NM_153828,NM_207520,NM_007008,NM_207521 RTN4,RTN4,RTN4,RTN4,RTN4 EXON Silent,Silent,Silent,Missense_G3V,Silent exm194673 2 55252294 [A/G] NM_020532,NM_153828,NM_207520,NM_207521 RTN4,RTN4,RTN4,RTN4 EXON Missense_L981F,Silent,Silent,Missense_L775F exm194675 2 55252354 [C/G] NM_020532,NM_153828,NM_207520,NM_207521 RTN4,RTN4,RTN4,RTN4 EXON Missense_Q961E,Silent,Silent,Missense_Q755E exm194677 2 55252401 [A/G] NM_020532,NM_153828,NM_207520,NM_207521 RTN4,RTN4,RTN4,RTN4 EXON Missense_T945I,Silent,Silent,Missense_T739I exm194678 2 55252414 [T/G] NM_020532,NM_153828,NM_207520,NM_207521 RTN4,RTN4,RTN4,RTN4 EXON Missense_N941H,Silent,Silent,Missense_N735H exm2273789 2 55252447 [T/C] NM_020532,NM_153828,NM_207520,NM_207521 RTN4,RTN4,RTN4,RTN4 EXON Missense_E930K,Silent,Silent,Missense_E724K exm2277236 2 55252464 [A/C] NM_020532,NM_153828,NM_207520,NM_207521 RTN4,RTN4,RTN4,RTN4 EXON Missense_I924R,Silent,Silent,Missense_I718R exm194682 2 55252476 [C/G] NM_020532,NM_153828,NM_207520,NM_207521 RTN4,RTN4,RTN4,RTN4 EXON Missense_S920C,Silent,Silent,Missense_S714C exm194683 2 55252540 [C/G] NM_020532,NM_153828,NM_207520,NM_207521 RTN4,RTN4,RTN4,RTN4 EXON Missense_E899Q,Silent,Silent,Missense_E693Q exm194690 2 55252692 [G/C] NM_020532,NM_153828,NM_207520,NM_207521 RTN4,RTN4,RTN4,RTN4 EXON Missense_S848C,Silent,Silent,Missense_S642C exm194693 2 55252795 [T/G] NM_020532,NM_153828,NM_207520,NM_207521 RTN4,RTN4,RTN4,RTN4 EXON Missense_L814M,Silent,Silent,Missense_L608M exm194697 2 55252884 [T/C] NM_020532,NM_153828,NM_207520,NM_207521 RTN4,RTN4,RTN4,RTN4 EXON Missense_N784S,Silent,Silent,Missense_N578S exm194698 2 55252959 [T/C] NM_020532,NM_153828,NM_207520,NM_207521 RTN4,RTN4,RTN4,RTN4 EXON Missense_K759R,Silent,Silent,Missense_K553R exm194702 2 55253014 [T/C] NM_020532,NM_153828,NM_207520,NM_207521 RTN4,RTN4,RTN4,RTN4 EXON Missense_D741N,Silent,Silent,Missense_D535N exm194705 2 55253062 [T/C] NM_020532,NM_153828,NM_207520,NM_207521 RTN4,RTN4,RTN4,RTN4 EXON Missense_E725K,Silent,Silent,Missense_E519K exm194715 2 55253266 [A/G] NM_020532,NM_153828,NM_207520,NM_207521 RTN4,RTN4,RTN4,RTN4 EXON Missense_P657S,Silent,Silent,Missense_P451S exm194730 2 55253823 [T/G] NM_020532,NM_153828,NM_207520,NM_207521 RTN4,RTN4,RTN4,RTN4 EXON Missense_A471E,Silent,Silent,Missense_A265E exm194734 2 55253869 [A/C] NM_020532,NM_153828,NM_207520,NM_207521 RTN4,RTN4,RTN4,RTN4 EXON Missense_D456Y,Silent,Silent,Missense_D250Y exm194736 2 55253886 [A/G] NM_020532,NM_153828,NM_207520,NM_207521 RTN4,RTN4,RTN4,RTN4 EXON Missense_T450M,Silent,Silent,Missense_T244M exm194737 2 55253916 [T/C] NM_020532,NM_153828,NM_207520,NM_207521 RTN4,RTN4,RTN4,RTN4 EXON Missense_S440N,Silent,Silent,Missense_S234N exm194744 2 55253988 [A/C] NM_020532,NM_153828,NM_207520,NM_207521 RTN4,RTN4,RTN4,RTN4 EXON Missense_L416W,Silent,Silent,Missense_L210W exm2024517 2 55254034 [T/C] NM_020532,NM_153828,NM_207520,NM_207521 RTN4,RTN4,RTN4,RTN4 EXON Missense_E401K,Silent,Silent,Missense_E195K exm194746 2 55254060 [T/C] NM_020532,NM_153828,NM_207520,NM_207521 RTN4,RTN4,RTN4,RTN4 EXON Missense_R392Q,Silent,Silent,Missense_R186Q exm2024519 2 55254096 [A/G] NM_020532,NM_153828,NM_207520,NM_207521 RTN4,RTN4,RTN4,RTN4 EXON Missense_M380T,Silent,Silent,Missense_M174T exm194749 2 55254165 [A/T] NM_020532,NM_153828,NM_207520,NM_207521 RTN4,RTN4,RTN4,RTN4 EXON Missense_D357V,Silent,Silent,Missense_D151V exm194751 2 55254259 [T/C] NM_020532,NM_153828,NM_207520,NM_207521 RTN4,RTN4,RTN4,RTN4 EXON Missense_K326E,Silent,Silent,Missense_K120E exm194756 2 55254295 [T/C] NM_020532,NM_153828,NM_207520,NM_207521 RTN4,RTN4,RTN4,RTN4 EXON Missense_V314I,Silent,Silent,Missense_V108I exm194759 2 55254327 [A/G] NM_020532,NM_153828,NM_207520,NM_207521 RTN4,RTN4,RTN4,RTN4 EXON Missense_S303L,Silent,Silent,Missense_S97L exm194760 2 55254329 [T/C] NM_020532,NM_153828,NM_207520,NM_207521 RTN4,RTN4,RTN4,RTN4 EXON Synonymous_S302S,Silent,Silent,Synonymous_S96S exm194771 2 55255355 [A/G] NM_020532,NM_153828,NM_207520,NM_207521 RTN4,RTN4,RTN4,RTN4 EXON Synonymous_D186D,Silent,Synonymous_D186D,Silent exm194791 2 55277314 [T/G] NM_020532,NM_153828,NM_207520 RTN4,RTN4,RTN4 EXON Missense_E41D,Missense_E41D,Missense_E41D exm194808 2 55403011 [A/G] NM_152385,NM_001135598 CLHC1,CLHC1 EXON Missense_T559M,Missense_T437M exm194819 2 55407644 [A/T] NM_152385,NM_001135598 CLHC1,CLHC1 Silent,Silent exm194822 2 55407710 [G/C] NM_152385,NM_001135598 CLHC1,CLHC1 EXON Missense_L440F,Missense_L318F exm194823 2 55407754 [T/C] NM_152385,NM_001135598 CLHC1,CLHC1 EXON Missense_V426I,Missense_V304I exm194826 2 55407792 [A/G] NM_152385,NM_001135598 CLHC1,CLHC1 EXON Missense_T413I,Missense_T291I exm194830 2 55408742 [T/C] NM_152385,NM_001135598 CLHC1,CLHC1 EXON Missense_R382Q,Missense_R260Q exm194832 2 55408776 [T/G] NM_152385,NM_001135598 CLHC1,CLHC1 EXON Missense_L371M,Missense_L249M exm2275588 2 55408785 [G/C] NM_152385,NM_001135598 CLHC1,CLHC1 EXON Missense_A368P,Missense_A246P exm194834 2 55408787 [A/G] NM_152385,NM_001135598 CLHC1,CLHC1 EXON Missense_A367V,Missense_A245V exm194835 2 55408799 [A/C] NM_152385,NM_001135598 CLHC1,CLHC1 EXON Missense_C363F,Missense_C241F exm194845 2 55435805 [A/G] NM_152385,NM_001135598 CLHC1,CLHC1 EXON Missense_R286C,Missense_R164C exm194846 2 55435809 [T/A] NM_152385,NM_001135598 CLHC1,CLHC1 EXON Missense_D284E,Missense_D162E exm194856 2 55436806 [A/G] NM_152385,NM_001135598 CLHC1,CLHC1 EXON Nonsense_R221X,Nonsense_R99X exm194857 2 55436809 [A/G] NM_152385,NM_001135598 CLHC1,CLHC1 EXON Missense_R220W,Missense_R98W exm194859 2 55436876 [A/C] NM_152385,NM_001135598 CLHC1,CLHC1 EXON Missense_M197I,Missense_M75I exm194864 2 55436934 [A/G] NM_152385,NM_001135598 CLHC1,CLHC1 EXON Missense_A178V,Missense_A56V exm194872 2 55439916 [A/G] NM_152385,NM_001135598 CLHC1,CLHC1 EXON Missense_S131L,Missense_S9L exm194876 2 55444961 [G/C] NM_152385,NM_001135598 CLHC1,CLHC1 EXON Missense_I117M,Silent exm2024564 2 55445061 [A/G] NM_152385,NM_001135598 CLHC1,CLHC1 EXON Missense_T84I,Silent exm194883 2 55445092 [T/C] NM_152385,NM_001135598 CLHC1,CLHC1 EXON Missense_I74V,Silent exm2024565 2 55445130 [A/G] NM_152385,NM_001135598 CLHC1,CLHC1 EXON Missense_I61T,Silent exm194888 2 55449412 [A/C] NM_152385,NM_001135598 CLHC1,CLHC1 EXON Missense_A46S,Silent exm194907 2 55461320 [T/C] NM_001135592,NM_002954,NM_001177413,NR_039624 RPS27A,RPS27A,RPS27A,MIR4426 EXON Missense_S57P,Missense_S57P,Missense_S57P,Silent exm194924 2 55463798 [T/C] NM_002453,NM_001005369 MTIF2,MTIF2 EXON Missense_D724N,Missense_D724N exm194929 2 55463915 [T/C] NM_002453,NM_001005369 MTIF2,MTIF2 EXON Missense_I685V,Missense_I685V exm194938 2 55467216 [A/G] NM_002453,NM_001005369 MTIF2,MTIF2 EXON Missense_R601C,Missense_R601C exm194940 2 55467275 [A/G] NM_002453,NM_001005369 MTIF2,MTIF2 EXON Missense_V581A,Missense_V581A exm194943 2 55470115 [T/C] NM_002453,NM_001005369 MTIF2,MTIF2 EXON Missense_V556I,Missense_V556I exm194953 2 55470683 [T/C] NM_002453,NM_001005369 MTIF2,MTIF2 EXON Missense_R478H,Missense_R478H exm194958 2 55470701 [T/G] NM_002453,NM_001005369 MTIF2,MTIF2 EXON Missense_E472A,Missense_E472A exm194975 2 55479615 [T/C] NM_002453,NM_001005369 MTIF2,MTIF2 EXON Missense_Q280R,Missense_Q280R exm194989 2 55479788 [A/G] NM_002453,NM_001005369 MTIF2,MTIF2 EXON Synonymous_V222V,Synonymous_V222V exm194999 2 55481877 [A/T] NM_002453,NM_001005369 MTIF2,MTIF2 EXON Missense_K139I,Missense_K139I exm195003 2 55481953 [A/G] NM_002453,NM_001005369 MTIF2,MTIF2 EXON Missense_Y114H,Missense_Y114H exm195007 2 55489517 [T/G] NM_002453,NM_001005369 MTIF2,MTIF2 EXON Missense_K89T,Missense_K89T exm195014 2 55490814 [A/C] NM_002453,NM_001005369 MTIF2,MTIF2 EXON Missense_A61S,Missense_A61S exm195015 2 55490819 [T/G] NM_002453,NM_001005369 MTIF2,MTIF2 EXON Missense_T59N,Missense_T59N exm2269275 2 55505681 [T/G] exm195023 2 55518858 [C/G] NM_001135597,NM_018084,NM_001254943 CCDC88A,CCDC88A,CCDC88A EXON Missense_Q1868E,Missense_Q1841E,Missense_Q1794E exm2237846 2 55518903 [T/C] NM_001135597,NM_018084,NM_001254943 CCDC88A,CCDC88A,CCDC88A EXON Missense_K1853E,Missense_K1826E,Missense_K1779E exm195036 2 55522964 [T/C] NM_001135597,NM_018084,NM_001254943 CCDC88A,CCDC88A,CCDC88A EXON Missense_T1773A,Missense_T1746A,Silent exm195045 2 55523143 [A/G] NM_001135597,NM_018084,NM_001254943 CCDC88A,CCDC88A,CCDC88A EXON Missense_L1713S,Missense_L1686S,Missense_L1713S exm195047 2 55523399 [T/C] NM_001135597,NM_018084,NM_001254943 CCDC88A,CCDC88A,CCDC88A EXON Missense_V1695I,Missense_V1668I,Missense_V1695I exm195050 2 55523504 [A/G] NM_001135597,NM_018084,NM_001254943 CCDC88A,CCDC88A,CCDC88A EXON Missense_S1660P,Missense_S1633P,Missense_S1660P exm195064 2 55529179 [C/G] NM_001135597,NM_018084,NM_001254943 CCDC88A,CCDC88A,CCDC88A EXON Missense_L1500V,Missense_L1473V,Missense_L1500V exm195077 2 55543087 [T/C] NM_001135597,NM_018084,NM_001254943 CCDC88A,CCDC88A,CCDC88A EXON Missense_T1303A,Missense_T1304A,Missense_T1303A exm2024645 2 55544485 [A/C] NM_001135597,NM_018084,NM_001254943 CCDC88A,CCDC88A,CCDC88A EXON Synonymous_R1200R,Synonymous_R1201R,Synonymous_R1200R exm195083 2 55544736 [T/C] NM_001135597,NM_018084,NM_001254943 CCDC88A,CCDC88A,CCDC88A EXON Missense_K1188R,Missense_K1189R,Missense_K1188R exm195090 2 55546010 [T/G] NM_001135597,NM_018084,NM_001254943 CCDC88A,CCDC88A,CCDC88A EXON Missense_T1097N,Missense_T1098N,Missense_T1097N exm195103 2 55555477 [G/C] NM_001135597,NM_018084,NM_001254943 CCDC88A,CCDC88A,CCDC88A EXON Missense_E983Q,Missense_E984Q,Missense_E983Q exm195108 2 55561354 [A/G] NM_001135597,NM_018084,NM_001254943 CCDC88A,CCDC88A,CCDC88A EXON Missense_T868I,Missense_T868I,Missense_T868I exm195114 2 55561585 [A/G] NM_001135597,NM_018084,NM_001254943 CCDC88A,CCDC88A,CCDC88A EXON Missense_M791T,Missense_M791T,Missense_M791T exm195117 2 55561669 [A/G] NM_001135597,NM_018084,NM_001254943 CCDC88A,CCDC88A,CCDC88A EXON Missense_I763T,Missense_I763T,Missense_I763T exm195122 2 55561944 [A/T] NM_001135597,NM_018084,NM_001254943 CCDC88A,CCDC88A,CCDC88A EXON Missense_E671D,Missense_E671D,Missense_E671D exm195128 2 55562127 [T/A] NM_001135597,NM_018084,NM_001254943 CCDC88A,CCDC88A,CCDC88A EXON Missense_K610N,Missense_K610N,Missense_K610N exm195136 2 55563904 [T/A] NM_001135597,NM_018084,NM_001254943 CCDC88A,CCDC88A,CCDC88A EXON Missense_N523K,Missense_N523K,Missense_N523K exm195138 2 55563939 [T/C] NM_001135597,NM_018084,NM_001254943 CCDC88A,CCDC88A,CCDC88A EXON Missense_N512D,Missense_N512D,Missense_N512D exm195151 2 55571580 [T/C] NM_001135597,NM_018084,NM_001254943 CCDC88A,CCDC88A,CCDC88A EXON Missense_R371H,Missense_R371H,Missense_R371H exm195158 2 55573401 [C/G] NM_001135597,NM_018084,NM_001254943 CCDC88A,CCDC88A,CCDC88A EXON Missense_E317D,Missense_E317D,Missense_E317D exm195161 2 55576666 [G/C] NM_001135597,NM_018084,NM_001254943 CCDC88A,CCDC88A,CCDC88A EXON Missense_R290S,Missense_R290S,Missense_R290S exm195169 2 55582820 [T/C] NM_001135597,NM_018084,NM_001254943 CCDC88A,CCDC88A,CCDC88A EXON Missense_Q232R,Missense_Q232R,Missense_Q232R exm2237850 2 55591108 [A/G] NM_001135597,NM_018084,NM_001254943 CCDC88A,CCDC88A,CCDC88A EXON Missense_A155V,Missense_A155V,Missense_A155V exm195194 2 55746955 [A/C] NM_080667 CCDC104 EXON Missense_E6D exm195214 2 55756126 [A/G] NM_080667 CCDC104 EXON Missense_N132S exm195230 2 55771082 [A/C] NM_080667 CCDC104 EXON Missense_M217L exm195233 2 55771161 [A/G] NM_080667 CCDC104 EXON Missense_D243G exm195234 2 55771169 [T/A] NM_080667 CCDC104 EXON Missense_I246F exm195251 2 55777060 [T/C] NM_020463,NM_001122964 SMEK2,SMEK2 EXON Missense_R761H,Missense_R846H exm195256 2 55785943 [T/C] NM_020463,NM_001122964 SMEK2,SMEK2 EXON Missense_T723A,Missense_T808A exm195275 2 55792169 [G/C] NM_020463,NM_001122964 SMEK2,SMEK2 EXON Missense_I563M,Missense_I648M exm2024742 2 55795445 [T/C] NM_020463,NM_001122964 SMEK2,SMEK2 EXON Missense_R522H,Missense_R607H exm195288 2 55804451 [T/C] NM_020463,NM_001122964 SMEK2,SMEK2 EXON Missense_G504S,Missense_D536N exm2265151 2 55812061 [A/G] NM_020463,NM_001122964 SMEK2,SMEK2 Silent,Silent exm195299 2 55812201 [G/C] NM_020463,NM_001122964 SMEK2,SMEK2 EXON Missense_Q407E,Missense_Q407E exm195302 2 55813759 [A/C] NM_020463,NM_001122964 SMEK2,SMEK2 EXON Missense_V371L,Missense_V371L exm195328 2 55825923 [T/G] NM_020463,NM_001122964 SMEK2,SMEK2 EXON Missense_N184H,Missense_N184H exm195338 2 55826059 [T/G] NM_020463,NM_001122964 SMEK2,SMEK2 EXON Missense_E138D,Missense_E138D exm195353 2 55844336 [A/G] NM_020463,NM_001122964 SMEK2,SMEK2 EXON Missense_S29F,Missense_S29F exm195368 2 55863449 [T/C] NM_033109 PNPT1 EXON Missense_V759M exm195389 2 55870485 [T/C] NM_033109 PNPT1 EXON Missense_R661K exm195397 2 55870560 [T/C] NM_033109 PNPT1 EXON Missense_G636D exm195400 2 55872511 [T/A] NM_033109 PNPT1 EXON Missense_S599T exm2024777 2 55872526 [A/C] NM_033109 PNPT1 EXON Missense_S594A exm195402 2 55872538 [T/C] NM_033109 PNPT1 EXON Missense_N590D exm195407 2 55873456 [C/G] NM_033109 PNPT1 EXON Missense_A559G exm195409 2 55873605 [T/C] NM_033109 PNPT1 EXON Missense_N540S exm195413 2 55874532 [T/C] NM_033109 PNPT1 EXON Missense_D518N exm195415 2 55874559 [T/C] NM_033109 PNPT1 EXON Missense_V509I exm195416 2 55874565 [A/C] NM_033109 PNPT1 EXON Missense_A507S exm195422 2 55883275 [G/C] NM_033109 PNPT1 EXON Missense_E478Q exm195433 2 55889149 [T/C] NM_033109 PNPT1 EXON Missense_V397I exm195438 2 55894203 [A/G] NM_033109 PNPT1 EXON Missense_L367F exm2255418 2 55895077 [A/G] NM_033109 PNPT1 EXON Synonymous_A331A exm195448 2 55898471 [A/G] NM_033109 PNPT1 EXON Missense_T320M exm195460 2 55900032 [A/G] NM_033109 PNPT1 EXON Missense_H288Y exm195480 2 55910961 [T/C] NM_033109 PNPT1 EXON Missense_I138V exm195481 2 55910969 [A/T] NM_033109 PNPT1 EXON Missense_D135V exm195495 2 55920837 [G/C] NM_033109 PNPT1 EXON Missense_S41T exm-rs7577894 2 56008904 [T/C] exm195516 2 56094270 [G/C] NM_001039349,NM_001039348 EFEMP1,EFEMP1 EXON Missense_G474R,Missense_G474R exm-rs3791679 2 56096892 [A/G] NM_001039349,NM_001039348 EFEMP1,EFEMP1 Silent,Silent exm195530 2 56098015 [T/C] NM_001039349,NM_001039348 EFEMP1,EFEMP1 EXON Missense_R387Q,Missense_R387Q exm2024836 2 56108864 [T/C] NM_001039349,NM_001039348 EFEMP1,EFEMP1 EXON Missense_D175N,Missense_D175N exm-rs3791675 2 56111309 [T/C] NM_001039349,NM_001039348 EFEMP1,EFEMP1 Silent,Silent exm2255420 2 56144930 [T/C] NM_001039349,NM_001039348 EFEMP1,EFEMP1 EXON Synonymous_E129E,Synonymous_E129E exm195557 2 56144971 [T/C] NM_001039349,NM_001039348 EFEMP1,EFEMP1 EXON Missense_G116S,Missense_G116S exm195568 2 56145171 [T/G] NM_001039349,NM_001039348 EFEMP1,EFEMP1 EXON Missense_D49A,Missense_D49A exm2269062 2 56354964 [T/C] exm-rs6751715 2 56363377 [T/C] exm195620 2 56420006 [T/A] NM_001080433 CCDC85A EXON Missense_H224L exm195628 2 56420201 [A/G] NM_001080433 CCDC85A EXON Missense_S289N exm195633 2 56420296 [T/C] NM_001080433 CCDC85A EXON Missense_R321W exm195637 2 56420369 [C/G] NM_001080433 CCDC85A EXON Missense_G345A exm195638 2 56420383 [A/C] NM_001080433 CCDC85A EXON Missense_H350N exm195641 2 56420416 [A/C] NM_001080433 CCDC85A EXON Missense_H361N exm-rs17268785 2 56592083 [A/G] NM_001080433 CCDC85A Silent exm2269063 2 56760994 [T/C] exm2269277 2 56907253 [T/C] exm2265152 2 57445335 [A/G] exm2261287 2 57935873 [A/G] exm2269064 2 57943567 [T/C] exm-rs2312147 2 58222928 [T/C] exm2269278 2 58237076 [T/C] exm195668 2 58276070 [T/C] NM_001130483,NM_006296,NM_001130480,NM_001130482,NR_036441,NR_049781,NM_001130481 VRK2,VRK2,VRK2,VRK2,VRK2,VRK2,VRK2 EXON Missense_I35T,Missense_I35T,Missense_I35T,Missense_I12T,Silent,Silent,Missense_I35T exm195670 2 58276096 [T/C] NM_001130483,NM_006296,NM_001130480,NM_001130482,NR_036441,NR_049781,NM_001130481 VRK2,VRK2,VRK2,VRK2,VRK2,VRK2,VRK2 EXON Missense_Y44H,Missense_Y44H,Missense_Y44H,Missense_Y21H,Silent,Silent,Missense_Y44H exm195672 2 58311235 [A/G] NM_001130483,NM_006296,NM_001130480,NM_001130482,NR_036441,NR_049781,NM_001130481 VRK2,VRK2,VRK2,VRK2,VRK2,VRK2,VRK2 EXON Missense_N50D,Missense_N50D,Missense_N50D,Missense_N27D,Silent,Silent,Missense_N50D exm195678 2 58313491 [T/C] NM_001130483,NM_006296,NM_001130480,NM_001130482,NR_036441,NR_049781,NM_001130481 VRK2,VRK2,VRK2,VRK2,VRK2,VRK2,VRK2 EXON Missense_R92C,Missense_R92C,Missense_R92C,Missense_R69C,Silent,Silent,Missense_R92C exm195681 2 58313555 [A/G] NM_001130483,NM_006296,NM_001130480,NM_001130482,NR_036441,NR_049781,NM_001130481 VRK2,VRK2,VRK2,VRK2,VRK2,VRK2,VRK2 EXON Missense_G113E,Missense_G113E,Missense_G113E,Missense_G90E,Silent,Silent,Missense_G113E exm195686 2 58315555 [A/G] NM_001130483,NM_006296,NM_001130480,NM_001130482,NR_036441,NR_049781,NM_001130481 VRK2,VRK2,VRK2,VRK2,VRK2,VRK2,VRK2 EXON Missense_T142A,Missense_T142A,Missense_T142A,Missense_T119A,Silent,Silent,Missense_T142A exm195690 2 58316786 [A/G] NM_001130483,NM_006296,NM_001130480,NM_001130482,NR_036441,NR_049781,NM_001130481 VRK2,VRK2,VRK2,VRK2,VRK2,VRK2,VRK2 EXON Missense_I157M,Missense_I157M,Missense_I157M,Missense_I134M,Silent,Silent,Missense_I157M exm195691 2 58316814 [A/G] NM_001130483,NM_006296,NM_001130480,NM_001130482,NR_036441,NR_049781,NM_001130481 VRK2,VRK2,VRK2,VRK2,VRK2,VRK2,VRK2 EXON Missense_I167V,Missense_I167V,Missense_I167V,Missense_I144V,Silent,Silent,Missense_I167V exm195692 2 58350279 [A/G] NM_001130483,NM_006296,NM_001130480,NM_001130482,NR_036441,NR_049781,NM_001130481 VRK2,VRK2,VRK2,VRK2,VRK2,VRK2,VRK2 EXON Missense_N196S,Missense_N196S,Missense_N196S,Missense_N173S,Silent,Silent,Missense_N196S exm195695 2 58350324 [A/G] NM_001130483,NM_006296,NM_001130480,NM_001130482,NR_036441,NR_049781,NM_001130481 VRK2,VRK2,VRK2,VRK2,VRK2,VRK2,VRK2 EXON Missense_N211S,Missense_N211S,Missense_N211S,Missense_N188S,Silent,Silent,Missense_N211S exm195696 2 58350333 [T/C] NM_001130483,NM_006296,NM_001130480,NM_001130482,NR_036441,NR_049781,NM_001130481 VRK2,VRK2,VRK2,VRK2,VRK2,VRK2,VRK2 EXON Missense_I214T,Missense_I214T,Missense_I214T,Missense_I191T,Silent,Silent,Missense_I214T exm195698 2 58358963 [A/G] NM_001130483,NM_006296,NM_001130480,NM_001130482,NR_036441,NR_049781,NM_001130481 VRK2,VRK2,VRK2,VRK2,VRK2,VRK2,VRK2 EXON Missense_V233I,Missense_V233I,Missense_V233I,Missense_V210I,Silent,Silent,Missense_V233I exm195715 2 58366890 [T/C] NM_001130483,NM_006296,NM_001130480,NM_001130482,NR_036441,NR_049781,NM_001130481 VRK2,VRK2,VRK2,VRK2,VRK2,VRK2,VRK2 EXON Missense_H316Y,Missense_H316Y,Missense_H316Y,Missense_H293Y,Silent,Silent,Missense_H316Y exm195721 2 58373535 [A/G] NM_001130483,NM_006296,NM_001130480,NM_001130482,NR_036441,NR_049781,NM_001130481 VRK2,VRK2,VRK2,VRK2,VRK2,VRK2,VRK2 EXON Missense_A370T,Missense_A370T,Missense_A370T,Missense_A347T,Silent,Silent,Missense_A370T exm195727 2 58373589 [T/A] NM_001130483,NM_006296,NM_001130480,NM_001130482,NR_036441,NR_049781,NM_001130481 VRK2,VRK2,VRK2,VRK2,VRK2,VRK2,VRK2 EXON Missense_M388L,Missense_M388L,Missense_M388L,Missense_M365L,Silent,Silent,Missense_M388L exm195743 2 58386628 [A/C] NM_001130483,NM_006296,NM_001130480,NM_001130482,NR_036441,NR_049781,NM_001130481,NM_001114636,NM_018062 VRK2,VRK2,VRK2,VRK2,VRK2,VRK2,VRK2,FANCL,FANCL EXON Silent,Missense_K443Q,Missense_K443Q,Missense_K420Q,Silent,Silent,Missense_K443Q,Silent,Silent exm2024903 2 58386773 [A/G] NM_001130483,NM_006296,NM_001130480,NM_001130482,NR_036441,NR_049781,NM_001130481,NM_001114636,NM_018062 VRK2,VRK2,VRK2,VRK2,VRK2,VRK2,VRK2,FANCL,FANCL EXON Silent,Missense_R491H,Missense_R491H,Missense_R468H,Silent,Silent,Missense_R491H,Silent,Silent exm195749 2 58386788 [T/G] NM_001130483,NM_006296,NM_001130480,NM_001130482,NR_036441,NR_049781,NM_001130481,NM_001114636,NM_018062 VRK2,VRK2,VRK2,VRK2,VRK2,VRK2,VRK2,FANCL,FANCL EXON Silent,Missense_V496G,Missense_V496G,Missense_V473G,Silent,Silent,Missense_V496G,Silent,Silent exm195750 2 58386805 [T/C] NM_001130483,NM_006296,NM_001130480,NM_001130482,NR_036441,NR_049781,NM_001130481,NM_001114636,NM_018062 VRK2,VRK2,VRK2,VRK2,VRK2,VRK2,VRK2,FANCL,FANCL EXON Silent,Missense_F502L,Missense_F502L,Missense_F479L,Silent,Silent,Missense_F502L,Silent,Silent exm195754 2 58386913 [C/G] NM_001130483,NM_006296,NM_001130480,NM_001130482,NR_036441,NR_049781,NM_001130481,NM_001114636,NM_018062 VRK2,VRK2,VRK2,VRK2,VRK2,VRK2,VRK2,FANCL,FANCL EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_G377A,Missense_G372A exm195759 2 58387311 [C/G] NM_001114636,NM_018062 FANCL,FANCL EXON Missense_L347V,Missense_L342V exm195764 2 58388714 [T/A] NM_001114636,NM_018062 FANCL,FANCL EXON Missense_D326E,Missense_D321E exm195773 2 58390589 [A/C] NM_001114636,NM_018062 FANCL,FANCL EXON Missense_F257C,Missense_F252C exm195777 2 58392880 [T/C] NM_001114636,NM_018062 FANCL,FANCL EXON Missense_T229A,Missense_T224A exm195778 2 58392901 [C/G] NM_001114636,NM_018062 FANCL,FANCL EXON Missense_E222Q,Missense_E217Q exm195779 2 58392928 [T/C] NM_001114636,NM_018062 FANCL,FANCL EXON Missense_D213N,Missense_D208N exm195782 2 58425745 [A/G] NM_001114636,NM_018062 FANCL,FANCL EXON Missense_A175V,Missense_A175V exm195803 2 58456962 [C/G] NM_001114636,NM_018062 FANCL,FANCL EXON Missense_R68P,Missense_R68P exm195818 2 58468445 [A/C] NM_001114636,NM_018062 FANCL,FANCL EXON Missense_A2S,Missense_A2S exm2269065 2 58506426 [T/G] exm2269066 2 59171779 [T/C] NR_033873 FLJ30838 Silent exm2261289 2 59207605 [A/G] NR_033873 FLJ30838 Silent exm-rs991964 2 59282591 [T/C] NR_033873 FLJ30838 Silent exm-rs887912 2 59302877 [T/C] exm-rs10490113 2 59499347 [A/C] exm2265153 2 59644842 [A/G] exm2261290 2 59731570 [A/G] exm-rs6712720 2 60281608 [G/C] exm2263894 2 60299010 [A/C] exm-rs10202231 2 60500144 [A/T] exm2261291 2 60553143 [A/C] exm-rs243021 2 60584819 [A/G] exm-rs2540917 2 60608759 [T/C] exm2255431 2 60687959 [A/G] NM_138559,NM_018014,NM_022893 BCL11A,BCL11A,BCL11A EXON Silent,Synonymous_S696S,Synonymous_S696S exm195872 2 60688947 [A/G] NM_138559,NM_018014,NM_022893 BCL11A,BCL11A,BCL11A EXON Silent,Missense_P367L,Missense_P367L exm-rs10189857 2 60713235 [A/G] NM_138559,NM_018014,NM_022893 BCL11A,BCL11A,BCL11A Silent,Silent,Silent exm-rs1427407 2 60718043 [T/G] NM_138559,NM_018014,NM_022893 BCL11A,BCL11A,BCL11A Silent,Silent,Silent exm-rs766432 2 60719970 [A/C] NM_138559,NM_018014,NM_022893 BCL11A,BCL11A,BCL11A Silent,Silent,Silent exm-rs11886868 2 60720246 [T/C] NM_138559,NM_018014,NM_022893 BCL11A,BCL11A,BCL11A Silent,Silent,Silent exm-rs10172646 2 60720757 [A/G] NM_138559,NM_018014,NM_022893 BCL11A,BCL11A,BCL11A Silent,Silent,Silent exm195898 2 60773406 [C/G] NM_138559,NM_018014,NM_022893 BCL11A,BCL11A,BCL11A EXON Missense_D29H,Missense_D29H,Missense_D29H exm195915 2 60987375 [A/G] NM_022894 PAPOLG EXON Missense_I42V exm195918 2 60988881 [T/G] NM_022894 PAPOLG EXON Missense_V62G exm195922 2 60995630 [A/C] NM_022894 PAPOLG EXON Missense_T91N exm195959 2 61019385 [T/C] NM_022894 PAPOLG EXON Missense_A547V exm195969 2 61021262 [C/G] NM_022894 PAPOLG EXON Missense_T642R exm195976 2 61021851 [T/C] NM_022894 PAPOLG EXON Nonsense_R666X exm195979 2 61021878 [T/C] NM_022894 PAPOLG EXON Missense_R675C exm195980 2 61021879 [A/G] NM_022894 PAPOLG EXON Missense_R675H exm-rs1432295 2 61066666 [A/G] exm-rs702873 2 61081542 [T/C] NR_033980 FLJ16341 Silent exm-rs842636 2 61091950 [A/G] NR_033980 FLJ16341 Silent exm-rs13031237 2 61136129 [T/G] NM_002908 REL Silent exm196016 2 61145558 [T/G] NM_002908 REL EXON Missense_D224Y exm196023 2 61147243 [T/C] NM_002908 REL EXON Synonymous_H307H exm196037 2 61148973 [A/G] NM_002908 REL EXON Missense_Y388C exm196039 2 61148988 [G/C] NM_002908 REL EXON Missense_P393R exm196043 2 61149081 [A/G] NM_002908 REL EXON Missense_N424S exm196044 2 61149107 [A/G] NM_002908 REL EXON Missense_T433A exm2237864 2 61149108 [T/C] NM_002908 REL EXON Missense_T433I exm196060 2 61149479 [T/C] NM_002908 REL EXON Missense_S557P exm196090 2 61181090 [A/G] NM_144709 PUS10 EXON Missense_R390C exm2261292 2 61184651 [A/G] NM_144709 PUS10 Silent exm-rs13003464 2 61186829 [A/G] NM_144709 PUS10 Silent exm196104 2 61188643 [T/C] NM_144709 PUS10 EXON Missense_A277T exm196111 2 61192228 [A/G] NM_144709 PUS10 EXON Missense_C230R exm-rs7608910 2 61204856 [A/G] NM_144709 PUS10 Silent exm-rs10188217 2 61217542 [T/C] NM_144709 PUS10 Silent exm-rs10181042 2 61224259 [T/C] NM_144709 PUS10 Silent exm196138 2 61238910 [A/G] NM_144709 PUS10 EXON Missense_L39P exm196139 2 61238944 [T/A] NM_144709 PUS10 EXON Missense_F28I exm2025048 2 61239042 [T/C] NM_144709 PUS10 Silent exm2255433 2 61258602 [A/G] NM_002618 PEX13 EXON Synonymous_A47A exm196160 2 61258687 [A/G] NM_002618 PEX13 EXON Missense_S76G exm196161 2 61258690 [A/T] NM_002618 PEX13 EXON Missense_S77T exm196166 2 61258786 [T/C] NM_002618 PEX13 EXON Missense_R109C exm196171 2 61258816 [A/G] NM_002618 PEX13 EXON Missense_V119I exm196178 2 61259135 [A/G] NM_002618 PEX13 EXON Missense_D225G exm196179 2 61259137 [T/C] NM_002618 PEX13 EXON Nonsense_R226X exm196187 2 61272966 [T/C] NM_002618 PEX13 EXON Missense_M298T exm196196 2 61275771 [G/C] NM_002618 PEX13 EXON Missense_L360V exm196205 2 61297589 [A/G] NM_001129993,NM_032506 KIAA1841,KIAA1841 EXON Missense_N35S,Missense_N35S exm196206 2 61297612 [A/G] NM_001129993,NM_032506 KIAA1841,KIAA1841 EXON Missense_V43M,Missense_V43M exm196211 2 61298769 [T/G] NM_001129993,NM_032506 KIAA1841,KIAA1841 EXON Missense_S60I,Missense_S60I exm196221 2 61300622 [T/C] NM_001129993,NM_032506 KIAA1841,KIAA1841 EXON Missense_C123R,Missense_C123R exm2025072 2 61304072 [A/G] NM_001129993,NM_032506 KIAA1841,KIAA1841 EXON Missense_H150R,Missense_H150R exm196227 2 61304131 [A/G] NM_001129993,NM_032506 KIAA1841,KIAA1841 EXON Missense_I170V,Missense_I170V exm196251 2 61310382 [T/C] NM_001129993,NM_032506 KIAA1841,KIAA1841 EXON Missense_R275C,Missense_R275C exm196255 2 61315356 [A/G] NM_001129993,NM_032506 KIAA1841,KIAA1841 EXON Missense_R318Q,Missense_R318Q exm196261 2 61315587 [A/G] NM_001129993,NM_032506 KIAA1841,KIAA1841 EXON Missense_V358I,Missense_V358I exm196270 2 61324847 [A/G] NM_001129993,NM_032506 KIAA1841,KIAA1841 EXON Missense_I409V,Missense_I409V exm196271 2 61324902 [G/C] NM_001129993,NM_032506 KIAA1841,KIAA1841 EXON Missense_A427G,Missense_A427G exm196291 2 61343134 [A/G] NM_001129993,NM_032506 KIAA1841,KIAA1841 EXON Missense_K589E,Missense_K589E exm196304 2 61344675 [A/G] NM_001129993,NM_032506 KIAA1841,KIAA1841 EXON Missense_D647N,Missense_D647N exm196311 2 61345243 [A/G] NM_001129993,NM_032506 KIAA1841,KIAA1841 EXON Missense_A674T,Missense_A674T exm196314 2 61349287 [A/G] NM_001129993,NM_032506 KIAA1841,KIAA1841 EXON Missense_R716H,Silent exm196316 2 61361296 [A/G] NM_032506 KIAA1841 EXON Missense_G685S exm196320 2 61361341 [T/C] NM_032506 KIAA1841 EXON Missense_L700F exm196328 2 61389737 [T/G] NM_001143960,NM_001143959 C2orf74,C2orf74 EXON Silent,Missense_Y37D exm196329 2 61390027 [G/C] NM_001143960,NM_001143959 C2orf74,C2orf74 EXON Silent,Missense_A56G exm196331 2 61390219 [T/C] NM_001143960,NM_001143959 C2orf74,C2orf74 EXON Missense_P9L,Missense_P88L exm196350 2 61412677 [C/G] NM_152392 AHSA2 EXON Missense_P39R exm196356 2 61413612 [A/G] NM_152392 AHSA2 EXON Missense_R75K exm196360 2 61413761 [A/C] NM_152392 AHSA2 EXON Missense_A85D exm2025110 2 61413778 [T/C] NM_152392 AHSA2 EXON Missense_F91L exm196363 2 61413802 [T/G] NM_152392 AHSA2 EXON Nonsense_E99X exm2025111 2 61413816 [T/G] NM_152392 AHSA2 EXON Missense_K103N exm196368 2 61413898 [T/C] NM_152392 AHSA2 EXON Nonsense_Q131X exm196369 2 61413899 [A/C] NM_152392 AHSA2 EXON Missense_Q131P exm196375 2 61415274 [A/G] NM_014709 USP34 EXON Missense_T3535I exm196381 2 61415328 [T/C] NM_014709 USP34 EXON Missense_H3517R exm2237872 2 61415560 [T/C] NM_014709 USP34 EXON Missense_N3440D exm196404 2 61415597 [T/C] NM_014709 USP34 EXON Missense_M3427I exm196412 2 61415798 [A/C] NM_014709 USP34 EXON Missense_D3360E exm196431 2 61417714 [T/C] NM_014709 USP34 EXON Missense_D3223G exm196448 2 61431477 [T/C] NM_014709 USP34 EXON Missense_K3100E exm196450 2 61431488 [T/C] NM_014709 USP34 EXON Missense_R3096Q exm196485 2 61448657 [T/C] NM_014709 USP34 EXON Missense_I2627V exm196503 2 61454242 [A/C] NM_014709 USP34 EXON Missense_A2519S exm196511 2 61455856 [T/A] NM_014709 USP34 Silent exm196515 2 61456089 [T/C] NM_014709 USP34 EXON Missense_R2414H exm196522 2 61463044 [C/G] NM_014709 USP34 EXON Missense_P2323R exm196525 2 61463469 [T/G] NM_014709 USP34 EXON Missense_T2278K exm196534 2 61472345 [T/C] NM_014709 USP34 EXON Synonymous_T2209T exm196540 2 61473586 [T/C] NM_014709 USP34 EXON Missense_K2141E exm196544 2 61475705 [T/C] NM_014709 USP34 EXON Missense_R2112H exm196550 2 61483548 [T/A] NM_014709 USP34 EXON Missense_H2064Q exm2255435 2 61486879 [A/C] NM_014709 USP34 EXON Synonymous_L1937L exm196563 2 61486879 [A/C] NM_014709 USP34 EXON Synonymous_L1937L exm2265155 2 61500322 [A/G] NM_014709 USP34 Silent exm196583 2 61507387 [T/C] NM_014709 USP34 EXON Missense_A1750T exm2237877 2 61507416 [T/C] NM_014709 USP34 EXON Missense_K1740R exm2255436 2 61508231 [A/C] NM_014709 USP34 EXON Synonymous_P1715P exm196598 2 61510290 [A/C] NM_014709 USP34 EXON Missense_L1663R exm196608 2 61512082 [A/G] NM_014709 USP34 EXON Missense_V1587A exm196610 2 61515855 [A/G] NM_014709 USP34 EXON Missense_A1569V exm2255437 2 61520668 [T/C] NM_014709 USP34 EXON Synonymous_G1493G exm196616 2 61520668 [T/C] NM_014709 USP34 EXON Synonymous_G1493G exm196625 2 61523960 [A/G] NM_014709 USP34 EXON Missense_A1410V exm196628 2 61524053 [T/C] NM_014709 USP34 EXON Missense_R1379Q exm196630 2 61528103 [T/C] NM_014709 USP34 EXON Missense_A1371T exm196648 2 61541778 [T/C] NM_014709 USP34 EXON Missense_M1162V exm196654 2 61541861 [T/C] NM_014709 USP34 EXON Missense_K1134R exm196701 2 61575149 [A/G] NM_014709 USP34 EXON Missense_I714T exm196703 2 61575177 [T/G] NM_014709 USP34 EXON Missense_I705L exm2025246 2 61575266 [A/G] NM_014709 USP34 EXON Missense_L675P exm196707 2 61575308 [A/G] NM_014709 USP34 EXON Missense_M661T exm2237879 2 61575320 [T/G] NM_014709 USP34 EXON Missense_D657A exm196721 2 61576006 [G/C] NM_014709 USP34 EXON Missense_S520T exm2237880 2 61597467 [A/C] NM_014709 USP34 EXON Missense_A414S exm196763 2 61632848 [T/C] NM_014709 USP34 EXON Missense_I183V exm196765 2 61632868 [T/C] NM_014709 USP34 EXON Missense_K176R exm196782 2 61633256 [A/G] NM_014709 USP34 EXON Synonymous_L47L exm196812 2 61715313 [T/C] NM_003400 XPO1 EXON Missense_N767S exm196821 2 61719303 [A/C] NM_003400 XPO1 EXON Missense_C585F exm196861 2 61729395 [T/C] NM_003400 XPO1 EXON Missense_T118A exm196874 2 61760912 [T/C] NM_003400 XPO1 EXON Missense_A41T exm-rs6545883 2 61772257 [A/G] exm196880 2 62053619 [T/C] NR_037710,NM_001201543,NM_032180 FAM161A,FAM161A,FAM161A EXON Silent,Missense_E708K,Missense_E652K exm2255439 2 62053677 [A/G] NR_037710,NM_001201543,NM_032180 FAM161A,FAM161A,FAM161A EXON Silent,Synonymous_I688I,Synonymous_I632I exm196887 2 62054286 [A/C] NR_037710,NM_001201543,NM_032180 FAM161A,FAM161A,FAM161A EXON Silent,Missense_E653D,Missense_E597D exm196901 2 62065769 [A/C] NR_037710,NM_001201543,NM_032180 FAM161A,FAM161A,FAM161A EXON Silent,Missense_M552R,Silent exm196903 2 62066566 [T/G] NR_037710,NM_001201543,NM_032180 FAM161A,FAM161A,FAM161A EXON Silent,Missense_Q525K,Missense_Q525K exm2237882 2 62066748 [T/C] NR_037710,NM_001201543,NM_032180 FAM161A,FAM161A,FAM161A EXON Silent,Missense_H464R,Missense_H464R exm196910 2 62066830 [A/T] NR_037710,NM_001201543,NM_032180 FAM161A,FAM161A,FAM161A EXON Silent,Nonsense_R437X,Nonsense_R437X exm196917 2 62066986 [G/C] NR_037710,NM_001201543,NM_032180 FAM161A,FAM161A,FAM161A EXON Silent,Missense_Q385E,Missense_Q385E exm196919 2 62067006 [A/C] NR_037710,NM_001201543,NM_032180 FAM161A,FAM161A,FAM161A EXON Silent,Missense_L378R,Missense_L378R exm196923 2 62067054 [A/C] NR_037710,NM_001201543,NM_032180 FAM161A,FAM161A,FAM161A EXON Silent,Missense_R362L,Missense_R362L exm196928 2 62067126 [T/C] NR_037710,NM_001201543,NM_032180 FAM161A,FAM161A,FAM161A EXON Silent,Missense_R338Q,Missense_R338Q exm2237883 2 62067135 [T/C] NR_037710,NM_001201543,NM_032180 FAM161A,FAM161A,FAM161A EXON Silent,Missense_R335Q,Missense_R335Q exm196929 2 62067157 [T/C] NR_037710,NM_001201543,NM_032180 FAM161A,FAM161A,FAM161A EXON Silent,Missense_I328V,Missense_I328V exm196933 2 62067223 [A/G] NR_037710,NM_001201543,NM_032180 FAM161A,FAM161A,FAM161A EXON Silent,Missense_R306W,Missense_R306W exm196938 2 62067322 [T/C] NR_037710,NM_001201543,NM_032180 FAM161A,FAM161A,FAM161A EXON Silent,Missense_E273K,Missense_E273K exm196944 2 62067433 [T/C] NR_037710,NM_001201543,NM_032180 FAM161A,FAM161A,FAM161A EXON Silent,Missense_I236V,Missense_I236V exm196951 2 62067645 [T/C] NR_037710,NM_001201543,NM_032180 FAM161A,FAM161A,FAM161A EXON Silent,Missense_Q165R,Missense_Q165R exm196954 2 62067704 [T/G] NR_037710,NM_001201543,NM_032180 FAM161A,FAM161A,FAM161A EXON Silent,Missense_E145D,Missense_E145D exm196957 2 62069325 [A/C] NR_037710,NM_001201543,NM_032180 FAM161A,FAM161A,FAM161A EXON Silent,Missense_Q118H,Missense_Q118H exm196959 2 62069358 [T/C] NR_037710,NM_001201543,NM_032180 FAM161A,FAM161A,FAM161A EXON Silent,Missense_I107M,Missense_I107M exm196961 2 62069482 [A/G] NR_037710,NM_001201543,NM_032180 FAM161A,FAM161A,FAM161A EXON Silent,Missense_T66I,Missense_T66I exm196981 2 62100165 [T/C] NM_006430,NM_001256721 CCT4,CCT4 EXON Missense_N366S,Missense_N336S exm196988 2 62100244 [T/C] NM_006430,NM_001256721 CCT4,CCT4 EXON Missense_I340V,Missense_I310V exm2269068 2 62101344 [T/G] NM_006430,NM_001256721 CCT4,CCT4 Silent,Silent exm197001 2 62103334 [A/C] NM_006430,NM_001256721 CCT4,CCT4 EXON Missense_Q271H,Missense_Q241H exm197009 2 62104134 [A/G] NM_006430,NM_001256721 CCT4,CCT4 EXON Missense_V233A,Missense_V203A exm2237885 2 62104616 [T/C] NM_006430,NM_001256721 CCT4,CCT4 EXON Missense_M186V,Missense_M156V exm2237886 2 62107466 [T/C] NM_006430,NM_001256721 CCT4,CCT4 EXON Missense_I112V,Missense_I82V exm197044 2 62132847 [A/C] NM_152516 COMMD1 EXON Missense_L12M exm197046 2 62132862 [A/C] NM_152516 COMMD1 EXON Missense_N17H exm197059 2 62228013 [T/C] NM_152516 COMMD1 EXON Missense_R120W exm2269279 2 62319997 [T/C] NM_152516 COMMD1 Silent exm197073 2 62449428 [A/G] NM_006577 B3GNT2 EXON Missense_M25V exm197079 2 62449516 [G/C] NM_006577 B3GNT2 EXON Missense_P54R exm197081 2 62449536 [T/C] NM_006577 B3GNT2 EXON Nonsense_R61X exm197083 2 62449581 [A/G] NM_006577 B3GNT2 EXON Missense_M76V exm197089 2 62449758 [T/C] NM_006577 B3GNT2 EXON Missense_P135S exm197104 2 62450391 [A/G] NM_006577 B3GNT2 EXON Missense_V346I exm-rs10865331 2 62551472 [A/G] exm2025425 2 62728379 [T/G] NM_198276 TMEM17 EXON Missense_M188L exm197114 2 62728403 [A/G] NM_198276 TMEM17 EXON Missense_R180W exm197123 2 62729621 [A/G] NM_198276 TMEM17 EXON Missense_I90T exm197134 2 62733189 [T/C] NM_198276 TMEM17 EXON Missense_G26S exm197137 2 62733201 [T/A] NM_198276 TMEM17 EXON Missense_S22T exm197138 2 62733206 [C/G] NM_198276 TMEM17 EXON Missense_S20T exm197155 2 62998484 [T/C] NM_001142615,NM_001142616,NM_015252,NM_001142614 EHBP1,EHBP1,EHBP1,EHBP1 EXON Missense_A90V,Missense_A90V,Missense_A90V,Missense_A90V exm2025446 2 63053354 [A/G] NM_001142615,NM_001142616,NM_015252,NM_001142614 EHBP1,EHBP1,EHBP1,EHBP1 EXON Missense_A149T,Missense_A149T,Missense_A149T,Missense_A149T exm197169 2 63058253 [T/G] NM_001142615,NM_001142616,NM_015252,NM_001142614 EHBP1,EHBP1,EHBP1,EHBP1 EXON Missense_E198D,Missense_E198D,Missense_E198D,Missense_E198D exm197173 2 63086329 [C/G] NM_001142615,NM_001142616,NM_015252,NM_001142614 EHBP1,EHBP1,EHBP1,EHBP1 EXON Missense_L220F,Missense_L220F,Missense_L255F,Missense_L220F exm197176 2 63086366 [T/A] NM_001142615,NM_001142616,NM_015252,NM_001142614 EHBP1,EHBP1,EHBP1,EHBP1 EXON Missense_N233Y,Missense_N233Y,Missense_N268Y,Missense_N233Y exm197181 2 63091910 [T/C] NM_001142615,NM_001142616,NM_015252,NM_001142614 EHBP1,EHBP1,EHBP1,EHBP1 EXON Missense_F268L,Missense_F268L,Missense_F303L,Missense_F268L exm197186 2 63092012 [T/C] NM_001142615,NM_001142616,NM_015252,NM_001142614 EHBP1,EHBP1,EHBP1,EHBP1 EXON Missense_P302S,Missense_P302S,Missense_P337S,Missense_P302S exm197190 2 63092082 [A/C] NM_001142615,NM_001142616,NM_015252,NM_001142614 EHBP1,EHBP1,EHBP1,EHBP1 EXON Missense_K325T,Missense_K325T,Missense_K360T,Missense_K325T exm197195 2 63101582 [T/C] NM_001142615,NM_001142616,NM_015252,NM_001142614 EHBP1,EHBP1,EHBP1,EHBP1 EXON Missense_P367L,Missense_P367L,Missense_P402L,Missense_P367L exm197197 2 63101587 [C/G] NM_001142615,NM_001142616,NM_015252,NM_001142614 EHBP1,EHBP1,EHBP1,EHBP1 EXON Missense_P369A,Missense_P369A,Missense_P404A,Missense_P369A exm2273792 2 63175539 [A/G] NM_001142615,NM_001142616,NM_015252,NM_001142614 EHBP1,EHBP1,EHBP1,EHBP1 EXON Missense_V520I,Missense_V520I,Missense_V555I,Missense_V520I exm197221 2 63175645 [T/A] NM_001142615,NM_001142616,NM_015252,NM_001142614 EHBP1,EHBP1,EHBP1,EHBP1 EXON Missense_D555V,Missense_D555V,Missense_D590V,Missense_D555V exm197223 2 63175734 [A/G] NM_001142615,NM_001142616,NM_015252,NM_001142614 EHBP1,EHBP1,EHBP1,EHBP1 EXON Missense_G585R,Missense_G585R,Missense_G620R,Missense_G585R exm197225 2 63175759 [A/G] NM_001142615,NM_001142616,NM_015252,NM_001142614 EHBP1,EHBP1,EHBP1,EHBP1 EXON Missense_H593R,Missense_H593R,Missense_H628R,Missense_H593R exm197227 2 63175810 [A/G] NM_001142615,NM_001142616,NM_015252,NM_001142614 EHBP1,EHBP1,EHBP1,EHBP1 EXON Missense_R610H,Missense_R610H,Missense_R645H,Missense_R610H exm197229 2 63175852 [A/G] NM_001142615,NM_001142616,NM_015252,NM_001142614 EHBP1,EHBP1,EHBP1,EHBP1 EXON Missense_S624N,Missense_S624N,Missense_S659N,Missense_S624N exm197234 2 63175957 [G/C] NM_001142615,NM_001142616,NM_015252,NM_001142614 EHBP1,EHBP1,EHBP1,EHBP1 EXON Missense_T659S,Missense_T659S,Missense_T694S,Missense_T659S exm197237 2 63176050 [T/C] NM_001142615,NM_001142616,NM_015252,NM_001142614 EHBP1,EHBP1,EHBP1,EHBP1 EXON Missense_T690I,Missense_T690I,Missense_T725I,Missense_T690I exm197244 2 63176179 [A/G] NM_001142615,NM_001142616,NM_015252,NM_001142614 EHBP1,EHBP1,EHBP1,EHBP1 EXON Missense_Y733C,Missense_Y733C,Missense_Y768C,Missense_Y733C exm197251 2 63206344 [T/C] NM_001142615,NM_001142616,NM_015252,NM_001142614 EHBP1,EHBP1,EHBP1,EHBP1 EXON Missense_R828W,Missense_R828W,Missense_R863W,Missense_R828W exm197252 2 63206345 [A/G] NM_001142615,NM_001142616,NM_015252,NM_001142614 EHBP1,EHBP1,EHBP1,EHBP1 EXON Missense_R828Q,Missense_R828Q,Missense_R863Q,Missense_R828Q exm197256 2 63206428 [A/G] NM_001142615,NM_001142616,NM_015252,NM_001142614 EHBP1,EHBP1,EHBP1,EHBP1 EXON Missense_M856V,Missense_M856V,Missense_M891V,Missense_M856V exm197264 2 63220672 [T/C] NM_001142615,NM_001142616,NM_015252,NM_001142614 EHBP1,EHBP1,EHBP1,EHBP1 EXON Missense_T914I,Missense_T914I,Missense_T985I,Missense_T950I exm197265 2 63220680 [C/G] NM_001142615,NM_001142616,NM_015252,NM_001142614 EHBP1,EHBP1,EHBP1,EHBP1 EXON Missense_L917V,Missense_L917V,Missense_L988V,Missense_L953V exm197268 2 63220713 [T/C] NM_001142615,NM_001142616,NM_015252,NM_001142614 EHBP1,EHBP1,EHBP1,EHBP1 EXON Missense_R928C,Missense_R928C,Missense_R999C,Missense_R964C exm197269 2 63220714 [A/G] NM_001142615,NM_001142616,NM_015252,NM_001142614 EHBP1,EHBP1,EHBP1,EHBP1 EXON Missense_R928H,Missense_R928H,Missense_R999H,Missense_R964H exm197272 2 63221062 [T/G] NM_001142615,NM_001142616,NM_015252,NM_001142614 EHBP1,EHBP1,EHBP1,EHBP1 EXON Missense_A977S,Missense_A977S,Missense_A1048S,Missense_A1013S exm197282 2 63265937 [T/C] NM_001142615,NM_001142616,NM_015252,NM_001142614 EHBP1,EHBP1,EHBP1,EHBP1 EXON Missense_M1088T,Missense_M1088T,Missense_M1159T,Missense_M1124T exm197307 2 63282925 [T/C] NM_001199770,NM_014562 OTX1,OTX1 EXON Missense_A180V,Missense_A180V exm-rs6545977 2 63301164 [A/G] exm197339 2 63380675 [A/C] NM_015910 WDPCP EXON Missense_D705Y exm197341 2 63401820 [T/C] NM_015910 WDPCP EXON Missense_N688S exm2269280 2 63474793 [T/C] NM_015910 WDPCP Silent exm-rs11683229 2 63596836 [A/G] NM_015910 WDPCP Silent exm197357 2 63605540 [A/C] NM_015910 WDPCP EXON Missense_F577V exm197365 2 63609227 [T/C] NM_015910 WDPCP EXON Missense_V480I exm2269070 2 63626173 [T/C] NM_015910 WDPCP Silent exm197372 2 63631285 [G/C] NM_015910 WDPCP EXON Missense_A445P exm197373 2 63631303 [T/C] NM_015910 WDPCP EXON Missense_V439I exm197375 2 63631355 [T/G] NM_015910 WDPCP EXON Missense_L421F exm197385 2 63631524 [T/C] NM_015910 WDPCP EXON Missense_E365G exm197391 2 63631633 [T/C] NM_015910 WDPCP EXON Missense_V329M exm197396 2 63660902 [T/C] NM_015910 WDPCP EXON Missense_G268S exm197411 2 63667005 [C/G] NM_015910 WDPCP EXON Missense_L129V exm197417 2 63713709 [G/C] NM_015910 WDPCP EXON Missense_G74R exm197419 2 63714580 [T/C] NM_015910 WDPCP Silent exm197421 2 63714613 [T/A] NM_015910 WDPCP EXON Missense_I59N exm197423 2 63719990 [T/C] NM_015910 WDPCP EXON Missense_D54N exm197424 2 63719991 [T/C] NM_015910 WDPCP EXON Synonymous_A53A exm197427 2 63720067 [A/T] NM_015910 WDPCP EXON Missense_D28V exm197431 2 63815338 [T/G] NM_015910 WDPCP EXON Missense_P23Q exm197449 2 63821685 [A/G] NM_005917,NM_001199111,NM_001199112 MDH1,MDH1,MDH1 EXON Missense_S23G,Missense_S41G,Silent exm197470 2 63832504 [A/G] NM_005917,NM_001199111,NM_001199112 MDH1,MDH1,MDH1 EXON Missense_D256N,Missense_D274N,Missense_D167N exm2025567 2 63834111 [T/C] NM_005917,NM_001199111,NM_001199112 MDH1,MDH1,MDH1 EXON Missense_S332F,Missense_S350F,Missense_S243F exm197480 2 64069326 [A/G] NM_001001521,NM_006759 UGP2,UGP2 EXON Silent,Missense_R3G exm197489 2 64084978 [G/C] NM_001001521,NM_006759 UGP2,UGP2 EXON Missense_L44V,Missense_L55V exm197495 2 64085066 [T/A] NM_001001521,NM_006759 UGP2,UGP2 EXON Missense_D73V,Missense_D84V exm197496 2 64085070 [A/G] NM_001001521,NM_006759 UGP2,UGP2 EXON Synonymous_S74S,Synonymous_S85S exm197512 2 64111188 [A/G] NM_001001521,NM_006759 UGP2,UGP2 EXON Missense_N168S,Missense_N179S exm197523 2 64112997 [A/G] NM_001001521,NM_006759 UGP2,UGP2 EXON Missense_N273D,Missense_N284D exm197542 2 64117216 [T/C] NM_001001521,NM_006759 UGP2,UGP2 EXON Missense_V428A,Missense_V439A exm197549 2 64118344 [T/C] NM_001001521,NM_006759 UGP2,UGP2 EXON Missense_R493C,Missense_R504C exm197553 2 64124722 [A/C] NM_001005739,NM_016516 VPS54,VPS54 EXON Missense_M900I,Missense_M912I exm197560 2 64139552 [T/C] NM_001005739,NM_016516 VPS54,VPS54 EXON Missense_H839R,Missense_H851R exm197573 2 64144062 [T/C] NM_001005739,NM_016516 VPS54,VPS54 EXON Missense_V722I,Missense_V734I exm197580 2 64147641 [A/G] NM_001005739,NM_016516 VPS54,VPS54 EXON Missense_L652F,Missense_L664F exm2237899 2 64160846 [T/C] NM_001005739,NM_016516 VPS54,VPS54 EXON Missense_H555R,Missense_H567R exm197593 2 64160864 [G/C] NM_001005739,NM_016516 VPS54,VPS54 EXON Missense_S549C,Missense_S561C exm197601 2 64161048 [T/C] NM_001005739,NM_016516 VPS54,VPS54 EXON Missense_K488E,Missense_K500E exm197609 2 64169646 [A/G] NM_001005739,NM_016516 VPS54,VPS54 EXON Missense_L439F,Missense_L451F exm2237900 2 64176182 [T/C] NM_001005739,NM_016516 VPS54,VPS54 EXON Missense_V364I,Missense_V376I exm2025629 2 64176230 [T/C] NM_001005739,NM_016516 VPS54,VPS54 EXON Missense_T348A,Missense_T360A exm197619 2 64176251 [T/C] NM_001005739,NM_016516 VPS54,VPS54 EXON Missense_M341V,Missense_M353V exm197654 2 64211078 [A/G] NM_001005739,NM_016516 VPS54,VPS54 EXON Missense_F19S,Missense_F19S exm197683 2 64323660 [T/C] NM_020651 PELI1 EXON Missense_V130I exm197684 2 64323725 [T/C] NM_020651 PELI1 EXON Missense_S108N exm-rs7604693 2 64349202 [A/C] NM_020651 PELI1 Silent exm2265323 2 64371569 [A/G] NM_020651 PELI1 EXON Silent exm197702 2 64682532 [A/G] NM_014181 LGALSL EXON Missense_V31M exm197717 2 64685425 [T/A] NM_014181 LGALSL EXON Missense_I128F exm2255447 2 64698397 [A/G] exm2261297 2 64735823 [T/C] exm197724 2 64778661 [A/G] NM_203437,NM_017657,NM_001002243 AFTPH,AFTPH,AFTPH EXON Missense_N18S,Missense_N18S,Missense_N18S exm197729 2 64778730 [A/G] NM_203437,NM_017657,NM_001002243 AFTPH,AFTPH,AFTPH EXON Missense_G41D,Missense_G41D,Missense_G41D exm197730 2 64778749 [A/C] NM_203437,NM_017657,NM_001002243 AFTPH,AFTPH,AFTPH EXON Missense_F47L,Missense_F47L,Missense_F47L exm197731 2 64778799 [A/G] NM_203437,NM_017657,NM_001002243 AFTPH,AFTPH,AFTPH EXON Missense_H64R,Missense_H64R,Missense_H64R exm197735 2 64778847 [A/G] NM_203437,NM_017657,NM_001002243 AFTPH,AFTPH,AFTPH EXON Missense_S80N,Missense_S80N,Missense_S80N exm197742 2 64779150 [T/G] NM_203437,NM_017657,NM_001002243 AFTPH,AFTPH,AFTPH EXON Missense_I181S,Missense_I181S,Missense_I181S exm197743 2 64779195 [A/G] NM_203437,NM_017657,NM_001002243 AFTPH,AFTPH,AFTPH EXON Missense_G196E,Missense_G196E,Missense_G196E exm197745 2 64779256 [G/C] NM_203437,NM_017657,NM_001002243 AFTPH,AFTPH,AFTPH EXON Missense_S216R,Missense_S216R,Missense_S216R exm197746 2 64779285 [A/G] NM_203437,NM_017657,NM_001002243 AFTPH,AFTPH,AFTPH EXON Missense_S226N,Missense_S226N,Missense_S226N exm197749 2 64779409 [T/G] NM_203437,NM_017657,NM_001002243 AFTPH,AFTPH,AFTPH EXON Missense_I267M,Missense_I267M,Missense_I267M exm197751 2 64779509 [A/G] NM_203437,NM_017657,NM_001002243 AFTPH,AFTPH,AFTPH EXON Missense_E301K,Missense_E301K,Missense_E301K exm197756 2 64779578 [A/G] NM_203437,NM_017657,NM_001002243 AFTPH,AFTPH,AFTPH EXON Missense_E324K,Missense_E324K,Missense_E324K exm197759 2 64779626 [T/C] NM_203437,NM_017657,NM_001002243 AFTPH,AFTPH,AFTPH EXON Missense_S340P,Missense_S340P,Missense_S340P exm197766 2 64779752 [T/G] NM_203437,NM_017657,NM_001002243 AFTPH,AFTPH,AFTPH EXON Missense_S382A,Missense_S382A,Missense_S382A exm197767 2 64779768 [A/G] NM_203437,NM_017657,NM_001002243 AFTPH,AFTPH,AFTPH EXON Missense_S387N,Missense_S387N,Missense_S387N exm197768 2 64779770 [A/G] NM_203437,NM_017657,NM_001002243 AFTPH,AFTPH,AFTPH EXON Missense_R388G,Missense_R388G,Missense_R388G exm197771 2 64779830 [A/G] NM_203437,NM_017657,NM_001002243 AFTPH,AFTPH,AFTPH EXON Missense_D408N,Missense_D408N,Missense_D408N exm197788 2 64780206 [A/G] NM_203437,NM_017657,NM_001002243 AFTPH,AFTPH,AFTPH EXON Missense_E533G,Missense_E533G,Missense_E533G exm197790 2 64780256 [T/A] NM_203437,NM_017657,NM_001002243 AFTPH,AFTPH,AFTPH EXON Missense_N550Y,Missense_N550Y,Missense_N550Y exm197791 2 64780257 [A/G] NM_203437,NM_017657,NM_001002243 AFTPH,AFTPH,AFTPH EXON Missense_N550S,Missense_N550S,Missense_N550S exm197794 2 64780376 [A/G] NM_203437,NM_017657,NM_001002243 AFTPH,AFTPH,AFTPH EXON Missense_D590N,Missense_D590N,Missense_D590N exm197797 2 64780404 [A/G] NM_203437,NM_017657,NM_001002243 AFTPH,AFTPH,AFTPH EXON Missense_R599Q,Missense_R599Q,Missense_R599Q exm197798 2 64780466 [A/G] NM_203437,NM_017657,NM_001002243 AFTPH,AFTPH,AFTPH EXON Missense_T620A,Missense_T620A,Missense_T620A exm2237904 2 64780532 [A/G] NM_203437,NM_017657,NM_001002243 AFTPH,AFTPH,AFTPH EXON Missense_T642A,Missense_T642A,Missense_T642A exm197808 2 64796233 [G/C] NM_203437,NM_017657,NM_001002243 AFTPH,AFTPH,AFTPH EXON Missense_L699V,Missense_L699V,Missense_L699V exm197838 2 64808347 [T/A] NM_203437,NM_017657,NM_001002243 AFTPH,AFTPH,AFTPH EXON Missense_N827Y,Silent,Silent exm2237906 2 64808387 [A/G] NM_203437,NM_017657,NM_001002243 AFTPH,AFTPH,AFTPH EXON Missense_S840N,Silent,Silent exm197848 2 64819143 [A/C] NM_203437,NM_017657,NM_001002243 AFTPH,AFTPH,AFTPH EXON Missense_S929R,Missense_S902R,Missense_S901R exm2025717 2 64863204 [T/C] NM_014755 SERTAD2 EXON Missense_A268T exm197857 2 64863302 [A/G] NM_014755 SERTAD2 EXON Missense_T235M exm2025719 2 64863381 [T/C] NM_014755 SERTAD2 EXON Missense_D209N exm197878 2 64863642 [T/A] NM_014755 SERTAD2 EXON Missense_S122C exm197879 2 64863645 [T/C] NM_014755 SERTAD2 EXON Missense_G121R exm197889 2 64863751 [T/C] NM_014755 SERTAD2 EXON Missense_M85I exm197891 2 64863821 [G/C] NM_014755 SERTAD2 EXON Missense_T62S exm197907 2 65216817 [A/G] NM_001193493,NM_003038 SLC1A4,SLC1A4 EXON Silent,Missense_A14T exm197924 2 65231096 [A/G] NM_001193493,NM_003038 SLC1A4,SLC1A4 EXON Silent,Missense_D194N exm197926 2 65237753 [A/C] NM_001193493,NM_003038 SLC1A4,SLC1A4 EXON Silent,Missense_E219A exm2025736 2 65237842 [T/C] NM_001193493,NM_003038 SLC1A4,SLC1A4 EXON Missense_R29C,Missense_R249C exm2237908 2 65237843 [A/G] NM_001193493,NM_003038 SLC1A4,SLC1A4 EXON Missense_R29H,Missense_R249H exm197932 2 65237870 [T/C] NM_001193493,NM_003038 SLC1A4,SLC1A4 EXON Missense_T38M,Missense_T258M exm197941 2 65243637 [T/C] NM_001193493,NM_003038 SLC1A4,SLC1A4 EXON Silent,Synonymous_I288I exm2255448 2 65243637 [T/C] NM_001193493,NM_003038 SLC1A4,SLC1A4 EXON Silent,Synonymous_I288I exm197942 2 65243638 [A/G] NM_001193493,NM_003038 SLC1A4,SLC1A4 EXON Silent,Missense_V289M exm197950 2 65243773 [A/G] NM_001193493,NM_003038 SLC1A4,SLC1A4 EXON Silent,Missense_A334T exm197966 2 65245365 [A/G] NM_001193493,NM_003038 SLC1A4,SLC1A4 EXON Missense_V101I,Missense_V399I exm197972 2 65245762 [T/C] NM_001193493,NM_003038 SLC1A4,SLC1A4 EXON Missense_I140T,Missense_I438T exm197973 2 65245765 [A/G] NM_001193493,NM_003038 SLC1A4,SLC1A4 EXON Missense_G141E,Missense_G439E exm197977 2 65248131 [A/G] NM_001193493,NM_003038 SLC1A4,SLC1A4 EXON Missense_K186E,Missense_K484E exm197981 2 65248201 [A/C] NM_001193493,NM_003038 SLC1A4,SLC1A4 EXON Nonsense_S209X,Nonsense_S507X exm197987 2 65296657 [A/G] NM_015147 CEP68 EXON Missense_R27G exm197989 2 65296693 [C/G] NM_015147 CEP68 EXON Missense_G39R exm197992 2 65296745 [T/G] NM_015147 CEP68 EXON Missense_W56L exm197993 2 65296748 [A/G] NM_015147 CEP68 EXON Missense_G57E exm197995 2 65296798 [A/G] NM_015147 CEP68 EXON Missense_G74S exm198000 2 65296843 [A/G] NM_015147 CEP68 EXON Missense_E89K exm198004 2 65296892 [T/C] NM_015147 CEP68 EXON Missense_A105V exm198012 2 65298657 [A/G] NM_015147 CEP68 EXON Missense_I143V exm198013 2 65298667 [A/G] NM_015147 CEP68 EXON Missense_G146E exm198017 2 65298748 [T/C] NM_015147 CEP68 EXON Missense_S173L exm198027 2 65298880 [A/G] NM_015147 CEP68 EXON Missense_R217H exm198031 2 65298927 [C/G] NM_015147 CEP68 EXON Missense_P233A exm198037 2 65299000 [G/C] NM_015147 CEP68 EXON Missense_G257A exm198038 2 65299020 [A/G] NM_015147 CEP68 EXON Missense_R264G exm198051 2 65299298 [A/C] NM_015147 CEP68 EXON Missense_N356K exm198052 2 65299300 [C/G] NM_015147 CEP68 EXON Missense_C357S exm198055 2 65299330 [T/A] NM_015147 CEP68 EXON Missense_F367Y exm198058 2 65299420 [T/C] NM_015147 CEP68 EXON Missense_L397P exm198060 2 65299452 [A/G] NM_015147 CEP68 EXON Missense_D408N exm198065 2 65299471 [G/C] NM_015147 CEP68 EXON Missense_R414T exm198070 2 65299552 [A/G] NM_015147 CEP68 EXON Missense_R441Q exm198075 2 65299614 [T/C] NM_015147 CEP68 EXON Missense_R462C exm2255449 2 65299766 [T/C] NM_015147 CEP68 EXON Synonymous_D512D exm198081 2 65299802 [T/G] NM_015147 CEP68 EXON Missense_S524R exm198090 2 65299951 [T/C] NM_015147 CEP68 EXON Missense_L574P exm198098 2 65300050 [T/C] NM_015147 CEP68 EXON Missense_V607A exm198111 2 65305046 [T/G] NM_015147 CEP68 EXON Missense_S684R exm198121 2 65315691 [A/G] NM_004161,NM_015543 RAB1A,RAB1A EXON Missense_A185V,Missense_A109V exm2255450 2 65394714 [T/C] exm-rs4671124 2 65495283 [A/G] NM_005722,NM_001005386 ACTR2,ACTR2 Silent,Silent exm2273353 2 65496018 [G/C] NM_005722,NM_001005386 ACTR2,ACTR2 EXON Silent,Silent exm198173 2 65540949 [T/G] NM_001128210,NM_181784 SPRED2,SPRED2 EXON Missense_M312L,Missense_M315L exm198176 2 65540986 [G/C] NM_001128210,NM_181784 SPRED2,SPRED2 EXON Missense_E299D,Missense_E302D exm198180 2 65541044 [T/C] NM_001128210,NM_181784 SPRED2,SPRED2 EXON Missense_R280H,Missense_R283H exm198181 2 65541063 [G/C] NM_001128210,NM_181784 SPRED2,SPRED2 EXON Missense_G274R,Missense_G277R exm198182 2 65541084 [T/C] NM_001128210,NM_181784 SPRED2,SPRED2 EXON Missense_D267N,Missense_D270N exm198183 2 65541087 [A/C] NM_001128210,NM_181784 SPRED2,SPRED2 EXON Missense_V266L,Missense_V269L exm2255451 2 65541214 [T/C] NM_001128210,NM_181784 SPRED2,SPRED2 EXON Synonymous_T223T,Synonymous_T226T exm198205 2 65543978 [T/C] NM_001128210,NM_181784 SPRED2,SPRED2 EXON Missense_E157K,Missense_E160K exm2025819 2 65559121 [T/C] NM_001128210,NM_181784 SPRED2,SPRED2 EXON Synonymous_T143T,Synonymous_T146T exm198221 2 65571938 [T/C] NM_001128210,NM_181784 SPRED2,SPRED2 EXON Missense_R37H,Missense_R40H exm-rs934734 2 65595586 [A/G] NM_181784 SPRED2 Silent exm-rs1876518 2 65608909 [T/C] NM_181784 SPRED2 Silent exm2269072 2 65777628 [T/C] exm2263942 2 65832209 [A/C] exm-rs1457451 2 65862378 [A/G] exm2269073 2 66285871 [T/C] exm2269282 2 66639190 [T/C] exm2255454 2 66665146 [T/C] NM_002398 MEIS1 Silent exm198256 2 66691281 [A/G] NM_002398 MEIS1 EXON Missense_R224H exm198262 2 66739353 [A/G] NM_002398 MEIS1 EXON Missense_R272H exm-rs11897119 2 66772000 [T/C] NM_002398 MEIS1 Silent exm-rs2300478 2 66781453 [T/G] NM_002398 MEIS1 Silent exm2265324 2 67513152 [A/G] exm198283 2 67624665 [A/G] NM_019002 ETAA1 EXON Missense_V29M exm198308 2 67630027 [A/G] NM_019002 ETAA1 EXON Missense_M155V exm198310 2 67630039 [A/G] NM_019002 ETAA1 EXON Missense_E159K exm198315 2 67630389 [T/C] NM_019002 ETAA1 EXON Missense_M192T exm198320 2 67630476 [T/C] NM_019002 ETAA1 EXON Missense_M221T exm2025864 2 67630697 [A/G] NM_019002 ETAA1 EXON Missense_G295R exm198326 2 67630835 [C/G] NM_019002 ETAA1 EXON Missense_R341G exm198333 2 67630980 [A/G] NM_019002 ETAA1 EXON Missense_S389N exm198334 2 67631001 [A/G] NM_019002 ETAA1 EXON Missense_N396S exm198337 2 67631064 [A/G] NM_019002 ETAA1 EXON Missense_C417Y exm198341 2 67631115 [T/C] NM_019002 ETAA1 EXON Missense_P434L exm198354 2 67631541 [T/C] NM_019002 ETAA1 EXON Missense_F576S exm198361 2 67631762 [A/G] NM_019002 ETAA1 EXON Missense_T650A exm198366 2 67631831 [A/G] NM_019002 ETAA1 EXON Missense_E673K exm2025873 2 67631858 [A/C] NM_019002 ETAA1 EXON Missense_I682L exm198369 2 67631910 [T/G] NM_019002 ETAA1 EXON Missense_S699I exm198374 2 67632044 [A/G] NM_019002 ETAA1 EXON Missense_N744D exm198375 2 67632071 [T/C] NM_019002 ETAA1 EXON Missense_S753P exm2273794 2 67632104 [A/C] NM_019002 ETAA1 EXON Missense_N764H exm198377 2 67632125 [T/C] NM_019002 ETAA1 EXON Missense_P771S exm198385 2 67632348 [A/C] NM_019002 ETAA1 EXON Missense_S845Y exm198394 2 67637150 [A/G] NM_019002 ETAA1 EXON Missense_A921T exm-rs7584345 2 67718290 [T/C] exm2269076 2 67729255 [T/G] exm-rs724568 2 67942480 [A/C] exm2255458 2 68035962 [T/C] exm-rs6747972 2 68070225 [A/G] exm2263943 2 68261015 [A/C] exm198412 2 68273143 [T/C] NM_006333,NM_173177,NM_001190265,NM_001190263 C1D,C1D,C1D,C1D EXON Missense_E80K,Missense_E80K,Missense_E80K,Missense_E80K exm198439 2 68358474 [T/C] NM_138458 WDR92 EXON Missense_I324V exm198442 2 68358552 [T/C] NM_138458 WDR92 EXON Missense_K298E exm198447 2 68361859 [T/C] NM_138458,NR_046234,NM_001256476 WDR92,WDR92,WDR92 EXON Missense_A281T,Silent,Missense_A281T exm198449 2 68361900 [T/G] NM_138458,NR_046234,NM_001256476 WDR92,WDR92,WDR92 EXON Missense_H267P,Silent,Missense_H267P exm198451 2 68361906 [A/C] NM_138458,NR_046234,NM_001256476 WDR92,WDR92,WDR92 EXON Missense_V265G,Silent,Missense_V265G exm198452 2 68364478 [T/C] NM_138458,NR_046234,NM_001256476 WDR92,WDR92,WDR92 EXON Missense_M241V,Silent,Missense_M241V exm198472 2 68384416 [T/C] NM_138458,NR_046234,NM_001256476 WDR92,WDR92,WDR92 EXON Missense_G54R,Silent,Missense_G54R exm198479 2 68384557 [A/G] NM_138458,NR_046234,NM_001256476 WDR92,WDR92,WDR92 EXON Missense_P7S,Silent,Missense_P7S exm198482 2 68384656 [A/T] NM_138458,NR_046234,NM_001256476 WDR92,WDR92,WDR92 EXON Silent,Silent,Silent exm198496 2 68385097 [A/G] NM_020143 PNO1 EXON Missense_R11G exm198499 2 68385109 [T/G] NM_020143 PNO1 EXON Missense_G15C exm198501 2 68385190 [G/C] NM_020143 PNO1 EXON Missense_G42R exm198502 2 68385205 [A/G] NM_020143 PNO1 EXON Missense_M47V exm198507 2 68385266 [G/C] NM_020143 PNO1 EXON Missense_G67A exm198509 2 68385516 [G/C] NM_020143 PNO1 EXON Missense_G71A exm198511 2 68385539 [C/G] NM_020143 PNO1 EXON Missense_P79A exm198515 2 68385590 [T/C] NM_020143 PNO1 EXON Missense_F96L exm198517 2 68385606 [A/G] NM_020143 PNO1 EXON Missense_E101G exm2255459 2 68388823 [A/G] NM_020143 PNO1 EXON Synonymous_K122K exm198523 2 68389692 [A/G] NM_020143 PNO1 EXON Missense_G173R exm198532 2 68400516 [A/G] NM_020143 PNO1 EXON Missense_M220V exm198536 2 68401894 [A/G] NM_020143 PNO1 EXON Missense_N240S exm2025955 2 68521040 [T/C] NM_001111101,NM_015463 CNRIP1,CNRIP1 EXON Silent,Missense_N150S exm198567 2 68521158 [A/G] NM_001111101,NM_015463 CNRIP1,CNRIP1 EXON Silent,Missense_F111L exm2269078 2 68540378 [T/C] NM_001111101,NM_015463 CNRIP1,CNRIP1 Silent,Silent exm198572 2 68544345 [C/G] NM_001111101,NM_015463 CNRIP1,CNRIP1 EXON Missense_E92Q,Missense_E92Q exm198587 2 68546507 [A/C] NM_001111101,NM_015463 CNRIP1,CNRIP1 EXON Missense_R9L,Missense_R9L exm-rs9309413 2 68570772 [G/C] exm198592 2 68592496 [T/C] NM_002664 PLEK EXON Missense_R5W exm-rs17035378 2 68598955 [T/C] NM_002664 PLEK Silent exm198604 2 68607947 [T/G] NM_002664 PLEK EXON Missense_K97N exm198605 2 68607978 [A/C] NM_002664 PLEK EXON Missense_K108Q exm198607 2 68607984 [T/G] NM_002664 PLEK EXON Missense_A110S exm198615 2 68613642 [A/G] NM_002664 PLEK EXON Missense_V161I exm198617 2 68613681 [T/C] NM_002664 PLEK EXON Missense_R174C exm198625 2 68613809 [G/C] NM_002664 PLEK EXON Missense_F216L exm198629 2 68615546 [A/C] NM_002664 PLEK EXON Missense_N229H exm198642 2 68622899 [A/G] NM_002664 PLEK EXON Missense_R335H exm198643 2 68622914 [A/G] NM_002664 PLEK EXON Missense_R340K exm198644 2 68622924 [T/G] NM_002664 PLEK EXON Missense_Q343H exm198645 2 68622935 [A/G] NM_002664 PLEK EXON Missense_R347Q exm198650 2 68691409 [A/C] NM_001024680 FBXO48 EXON Nonsense_E134X exm198666 2 68717322 [A/G] NM_173545 APLF EXON Missense_I33V exm198667 2 68717349 [T/C] NM_173545 APLF EXON Missense_H42Y exm198668 2 68717350 [T/A] NM_173545 APLF EXON Missense_H42L exm198670 2 68717393 [A/G] NM_173545 APLF EXON Synonymous_P56P exm198674 2 68729939 [A/G] NM_173545 APLF EXON Missense_Y82C exm198679 2 68729992 [A/G] NM_173545 APLF EXON Missense_I100V exm198684 2 68740288 [T/A] NM_173545 APLF EXON Missense_T140S exm198689 2 68740708 [A/G] NM_173545 APLF EXON Missense_N173S exm198690 2 68740735 [A/G] NM_173545 APLF EXON Missense_R182K exm198693 2 68753240 [A/T] NM_173545 APLF EXON Missense_S224T exm198703 2 68765091 [A/G] NM_173545 APLF EXON Missense_I298V exm198705 2 68765133 [A/G] NM_173545 APLF EXON Missense_K312E exm198711 2 68765205 [T/C] NM_173545 APLF EXON Missense_L336F exm2026023 2 68772377 [A/G] NM_173545 APLF EXON Missense_V407I exm198725 2 68772410 [T/C] NM_173545 APLF EXON Missense_R418W exm198727 2 68772434 [T/C] NM_173545 APLF EXON Missense_S426P exm198728 2 68772437 [T/C] NM_173545 APLF EXON Missense_C427R exm198732 2 68794471 [A/G] NM_173545 APLF Silent exm198733 2 68794483 [A/C] NM_173545 APLF EXON Missense_Q433K exm198746 2 68873059 [T/A] NM_138964 PROKR1 EXON Missense_N36Y exm198748 2 68873071 [A/G] NM_138964 PROKR1 EXON Missense_S40G exm198750 2 68873074 [A/G] NM_138964 PROKR1 EXON Missense_D41N exm198759 2 68873219 [A/G] NM_138964 PROKR1 EXON Missense_R89H exm198765 2 68873257 [A/G] NM_138964 PROKR1 EXON Missense_A102T exm198769 2 68873308 [A/G] NM_138964 PROKR1 EXON Missense_E119K exm198770 2 68873321 [A/G] NM_138964 PROKR1 EXON Missense_Y123C exm198796 2 68882398 [C/G] NM_138964 PROKR1 EXON Missense_T291S exm198800 2 68882442 [T/G] NM_138964 PROKR1 EXON Missense_V306L exm198808 2 68882545 [A/T] NM_138964 PROKR1 EXON Missense_L340Q exm198810 2 68882587 [A/G] NM_138964 PROKR1 EXON Missense_K354R exm198816 2 68882661 [A/G] NM_138964 PROKR1 EXON Missense_I379V exm2237926 2 69015005 [T/C] NM_001166277,NM_001007231,NM_001166276,NM_014882 ARHGAP25,ARHGAP25,ARHGAP25,ARHGAP25 EXON Silent,Missense_S128F,Missense_S121F,Missense_S121F exm198845 2 69015032 [T/C] NM_001166277,NM_001007231,NM_001166276,NM_014882 ARHGAP25,ARHGAP25,ARHGAP25,ARHGAP25 EXON Silent,Missense_A137V,Missense_A130V,Missense_A130V exm2237927 2 69034515 [T/C] NM_001166277,NM_001007231,NM_001166276,NM_014882 ARHGAP25,ARHGAP25,ARHGAP25,ARHGAP25 EXON Missense_R153W,Missense_R193W,Missense_R186W,Missense_R185W exm198868 2 69043470 [A/G] NM_001166277,NM_001007231,NM_001166276,NM_014882 ARHGAP25,ARHGAP25,ARHGAP25,ARHGAP25 EXON Missense_Y246C,Missense_Y286C,Missense_Y279C,Missense_Y278C exm198878 2 69046285 [T/G] NM_001166277,NM_001007231,NM_001166276,NM_014882 ARHGAP25,ARHGAP25,ARHGAP25,ARHGAP25 EXON Missense_M305R,Missense_M345R,Missense_M338R,Missense_M337R exm198885 2 69049487 [A/G] NM_001166277,NM_001007231,NM_001166276,NM_014882 ARHGAP25,ARHGAP25,ARHGAP25,ARHGAP25 EXON Missense_T366A,Missense_T406A,Missense_T399A,Missense_T398A exm198891 2 69049519 [A/T] NM_001166277,NM_001007231,NM_001166276,NM_014882 ARHGAP25,ARHGAP25,ARHGAP25,ARHGAP25 EXON Missense_D376E,Missense_D416E,Missense_D409E,Missense_D408E exm198894 2 69049538 [A/G] NM_001166277,NM_001007231,NM_001166276,NM_014882 ARHGAP25,ARHGAP25,ARHGAP25,ARHGAP25 EXON Missense_S383G,Missense_S423G,Missense_S416G,Missense_S415G exm198906 2 69049787 [A/G] NM_001166277,NM_001007231,NM_001166276,NM_014882 ARHGAP25,ARHGAP25,ARHGAP25,ARHGAP25 EXON Missense_V466I,Missense_V506I,Missense_V499I,Missense_V498I exm198908 2 69049803 [C/G] NM_001166277,NM_001007231,NM_001166276,NM_014882 ARHGAP25,ARHGAP25,ARHGAP25,ARHGAP25 EXON Missense_G471A,Missense_G511A,Missense_G504A,Missense_G503A exm198909 2 69049808 [T/C] NM_001166277,NM_001007231,NM_001166276,NM_014882 ARHGAP25,ARHGAP25,ARHGAP25,ARHGAP25 EXON Missense_P473S,Missense_P513S,Missense_P506S,Missense_P505S exm198911 2 69049916 [A/G] NM_001166277,NM_001007231,NM_001166276,NM_014882 ARHGAP25,ARHGAP25,ARHGAP25,ARHGAP25 EXON Missense_E509K,Missense_E549K,Missense_E542K,Missense_E541K exm198912 2 69049920 [A/G] NM_001166277,NM_001007231,NM_001166276,NM_014882 ARHGAP25,ARHGAP25,ARHGAP25,ARHGAP25 EXON Missense_E510G,Missense_E550G,Missense_E543G,Missense_E542G exm198913 2 69049939 [T/G] NM_001166277,NM_001007231,NM_001166276,NM_014882 ARHGAP25,ARHGAP25,ARHGAP25,ARHGAP25 EXON Missense_R516S,Missense_R556S,Missense_R549S,Missense_R548S exm198914 2 69049941 [T/C] NM_001166277,NM_001007231,NM_001166276,NM_014882 ARHGAP25,ARHGAP25,ARHGAP25,ARHGAP25 EXON Missense_M517T,Missense_M557T,Missense_M550T,Missense_M549T exm198915 2 69049956 [A/G] NM_001166277,NM_001007231,NM_001166276,NM_014882 ARHGAP25,ARHGAP25,ARHGAP25,ARHGAP25 EXON Missense_R522Q,Missense_R562Q,Missense_R555Q,Missense_R554Q exm198920 2 69053141 [A/G] NM_001166277,NM_001007231,NM_001166276,NM_014882 ARHGAP25,ARHGAP25,ARHGAP25,ARHGAP25 EXON Missense_V546I,Missense_V586I,Missense_V579I,Missense_V578I exm2237928 2 69053166 [A/G] NM_001166277,NM_001007231,NM_001166276,NM_014882 ARHGAP25,ARHGAP25,ARHGAP25,ARHGAP25 EXON Missense_N554S,Missense_N594S,Missense_N587S,Missense_N586S exm2026084 2 69053232 [A/G] NM_001166277,NM_001007231,NM_001166276,NM_014882 ARHGAP25,ARHGAP25,ARHGAP25,ARHGAP25 EXON Missense_R576H,Missense_R616H,Missense_R609H,Missense_R608H exm198927 2 69053318 [A/G] NM_001166277,NM_001007231,NM_001166276,NM_014882 ARHGAP25,ARHGAP25,ARHGAP25,ARHGAP25 EXON Missense_E605K,Missense_E645K,Missense_E638K,Missense_E637K exm-rs10496166 2 69063909 [A/G] exm198932 2 69092819 [T/C] NM_014482 BMP10 EXON Missense_V407I exm198942 2 69093047 [T/C] NM_014482 BMP10 EXON Missense_D331N exm198945 2 69093086 [T/C] NM_014482 BMP10 EXON Missense_A318T exm198947 2 69093288 [T/G] NM_014482 BMP10 EXON Missense_N250K exm198953 2 69093413 [A/G] NM_014482 BMP10 EXON Missense_R209C exm198962 2 69093688 [A/G] NM_014482 BMP10 EXON Missense_P117L exm198975 2 69098463 [T/C] NM_014482 BMP10 EXON Missense_A10T exm2255461 2 69098464 [A/G] NM_014482 BMP10 EXON Synonymous_C9C exm198978 2 69098481 [G/C] NM_014482 BMP10 EXON Missense_L4V exm2255462 2 69147566 [T/C] exm198988 2 69172570 [A/G] NM_182536 GKN2 EXON Missense_A162V exm2026099 2 69173520 [T/C] NM_182536 GKN2 EXON Missense_V130M exm198998 2 69173570 [T/C] NM_182536 GKN2 EXON Missense_S113N exm199007 2 69177269 [A/C] NM_182536 GKN2 EXON Missense_D65Y exm199011 2 69177311 [T/C] NM_182536 GKN2 EXON Missense_I51V exm199023 2 69179990 [A/T] NM_182536 GKN2 EXON Nonsense_K2X exm-rs4254535 2 69198388 [T/C] exm199028 2 69201799 [A/G] NM_019617 GKN1 EXON Missense_R11H exm2273795 2 69206066 [A/G] NM_019617 GKN1 EXON Missense_V104I exm199060 2 69207913 [A/G] NM_019617 GKN1 EXON Nonsense_W186X exm199068 2 69240651 [A/G] NM_018153,NM_053034,NM_032208 ANTXR1,ANTXR1,ANTXR1 EXON Missense_R7K,Missense_R7K,Missense_R7K exm2269283 2 69269809 [T/C] NM_018153,NM_053034,NM_032208 ANTXR1,ANTXR1,ANTXR1 Silent,Silent,Silent exm199073 2 69271912 [A/G] NM_018153,NM_053034,NM_032208 ANTXR1,ANTXR1,ANTXR1 EXON Missense_R88Q,Missense_R88Q,Missense_R88Q exm199111 2 69351725 [A/G] NM_018153,NM_053034,NM_032208 ANTXR1,ANTXR1,ANTXR1 EXON Missense_D301N,Missense_D301N,Missense_D301N exm2026164 2 69351767 [A/G] NM_018153,NM_053034,NM_032208 ANTXR1,ANTXR1,ANTXR1 EXON Missense_T315A,Missense_T315A,Missense_T315A exm199137 2 69409751 [T/C] NM_032208 ANTXR1 EXON Missense_R438C exm199144 2 69420485 [T/G] NM_032208 ANTXR1 EXON Missense_W458G exm199154 2 69472361 [A/G] NM_032208 ANTXR1 EXON Missense_R480H exm199164 2 69472439 [T/C] NM_032208 ANTXR1 EXON Missense_P506L exm199213 2 69555414 [T/C] NM_002056,NM_001244710 GFPT1,GFPT1 EXON Missense_V610I,Missense_V628I exm2255463 2 69569930 [T/C] NM_002056,NM_001244710 GFPT1,GFPT1 Silent,Silent exm199250 2 69590797 [T/G] NM_002056,NM_001244710 GFPT1,GFPT1 EXON Missense_Q77K,Missense_Q77K exm2255464 2 69597209 [A/G] NM_002056,NM_001244710 GFPT1,GFPT1 EXON Synonymous_D49D,Synonymous_D49D exm199291 2 69659049 [A/C] NM_001002756,NR_045632,NM_015700,NR_045631,NM_001002755 NFU1,NFU1,NFU1,NFU1,NFU1 EXON Silent,Silent,Missense_A27S,Silent,Missense_A51S exm199293 2 69659126 [T/A] NM_001002756,NR_045632,NM_015700,NR_045631,NM_001002755 NFU1,NFU1,NFU1,NFU1,NFU1 EXON Silent,Silent,Missense_M1K,Silent,Missense_M25K exm199322 2 69706104 [T/C] NM_014911 AAK1 EXON Missense_I887V exm199329 2 69708021 [T/C] NM_014911 AAK1 EXON Missense_Q847R exm199330 2 69708033 [T/C] NM_014911 AAK1 EXON Missense_R843H exm2026253 2 69723170 [A/G] NM_014911 AAK1 EXON Missense_P771L exm-rs7577851 2 69723710 [T/C] NM_014911 AAK1 Silent exm199343 2 69732797 [T/G] NM_014911 AAK1 EXON Missense_P725T exm199346 2 69734636 [A/G] NM_014911 AAK1 EXON Missense_T694M exm199352 2 69736561 [A/G] NM_014911 AAK1 EXON Missense_V603A exm2237933 2 69736567 [A/G] NM_014911 AAK1 EXON Missense_P601L exm199366 2 69741854 [T/G] NM_014911 AAK1 EXON Missense_K509Q exm199369 2 69746142 [G/C] NM_014911 AAK1 EXON Missense_A481P exm199371 2 69746244 [T/A] NM_014911 AAK1 EXON Missense_S447T exm199378 2 69748053 [A/T] NM_014911 AAK1 EXON Missense_T375S exm199385 2 69759260 [T/C] NM_014911 AAK1 EXON Missense_Y190C exm199388 2 69769729 [T/C] NM_014911 AAK1 EXON Missense_I154V exm199390 2 69769767 [T/C] NM_014911 AAK1 EXON Missense_R141H exm199399 2 69784074 [T/C] NM_014911 AAK1 EXON Missense_N67S exm199411 2 70015272 [T/C] NM_001153 ANXA4 EXON Synonymous_L32L exm199414 2 70031670 [G/C] NM_001153 ANXA4 EXON Missense_D35H exm199426 2 70033584 [T/C] NM_001153 ANXA4 EXON Missense_T87M exm199443 2 70043249 [A/G] NM_001153 ANXA4 EXON Missense_G184E exm199451 2 70045787 [G/C] NM_001153 ANXA4 EXON Missense_E229Q exm199456 2 70046463 [T/C] NM_001153 ANXA4 EXON Missense_S259L exm199464 2 70047948 [A/C] NM_001153 ANXA4 EXON Missense_I301L exm199465 2 70052624 [T/G] NM_001153 ANXA4 EXON Missense_V315F exm199482 2 70066643 [A/G] NM_178439 GMCL1 EXON Missense_I147V exm199499 2 70074721 [T/A] NM_178439 GMCL1 EXON Missense_M269L exm199501 2 70074757 [A/C] NM_178439 GMCL1 EXON Missense_K281Q exm2026355 2 70082038 [A/G] NM_178439 GMCL1 EXON Missense_I340V exm199514 2 70096978 [A/G] NM_178439 GMCL1 EXON Missense_R449Q exm199516 2 70098882 [A/G] NM_178439 GMCL1 EXON Missense_R457H exm199539 2 70123668 [T/C] NM_006857,NR_037862 SNRNP27,SNRNP27 EXON Missense_R86W,Silent exm199540 2 70123669 [A/G] NM_006857,NR_037862 SNRNP27,SNRNP27 EXON Missense_R86Q,Silent exm199566 2 70165256 [T/C] NM_002357,NM_001202514,NM_001202513 MXD1,MXD1,MXD1 EXON Missense_T169M,Missense_T159M,Missense_T168M exm199567 2 70165281 [C/G] NM_002357,NM_001202514,NM_001202513 MXD1,MXD1,MXD1 EXON Missense_D177E,Missense_D167E,Missense_D176E exm199570 2 70165316 [A/G] NM_002357,NM_001202514,NM_001202513 MXD1,MXD1,MXD1 EXON Missense_R189Q,Missense_R179Q,Missense_R188Q exm199573 2 70165361 [T/C] NM_002357,NM_001202514,NM_001202513 MXD1,MXD1,MXD1 EXON Missense_T204I,Missense_T194I,Missense_T203I exm2265159 2 70172116 [A/G] exm-rs10496176 2 70173629 [T/C] exm2265325 2 70176616 [A/G] exm199582 2 70187808 [T/C] NM_152792 ASPRV1 EXON Missense_R338Q exm199583 2 70187809 [A/G] NM_152792 ASPRV1 EXON Missense_R338W exm199589 2 70187890 [A/G] NM_152792 ASPRV1 EXON Missense_R311C exm199609 2 70188294 [T/C] NM_152792 ASPRV1 EXON Missense_G176E exm199613 2 70188365 [A/C] NM_152792 ASPRV1 EXON Missense_R152S exm199619 2 70188517 [T/C] NM_152792 ASPRV1 EXON Missense_V102I exm199620 2 70188531 [T/C] NM_152792 ASPRV1 EXON Missense_R97Q exm199622 2 70188556 [T/C] NM_152792 ASPRV1 EXON Missense_G89R exm199623 2 70188562 [T/C] NM_152792 ASPRV1 EXON Missense_G87R exm199629 2 70188666 [T/C] NM_152792 ASPRV1 EXON Missense_R52Q exm199630 2 70188676 [T/C] NM_152792 ASPRV1 EXON Missense_T49A exm199650 2 70315126 [A/G] NM_006196 PCBP1 EXON Missense_N84S exm2273354 2 70377445 [A/G] NM_017880 C2orf42 EXON Silent exm199680 2 70377677 [T/G] NM_017880 C2orf42 EXON Missense_Q512H exm199681 2 70387787 [A/G] NM_017880 C2orf42 EXON Missense_P496S exm199682 2 70387796 [T/C] NM_017880 C2orf42 EXON Missense_V493M exm199683 2 70387813 [T/C] NM_017880 C2orf42 EXON Missense_R487H exm199688 2 70387822 [G/C] NM_017880 C2orf42 EXON Missense_T484S exm2026432 2 70387882 [T/C] NM_017880 C2orf42 EXON Missense_R464Q exm199699 2 70392672 [T/C] NM_017880 C2orf42 EXON Missense_N414D exm199702 2 70392698 [A/G] NM_017880 C2orf42 EXON Missense_I405T exm199709 2 70402809 [A/C] NM_017880 C2orf42 EXON Missense_R345S exm199712 2 70402859 [T/G] NM_017880 C2orf42 EXON Missense_L329I exm199713 2 70402882 [C/G] NM_017880 C2orf42 EXON Missense_P321R exm199716 2 70402903 [T/G] NM_017880 C2orf42 EXON Missense_Q314P exm199718 2 70406718 [A/C] NM_017880 C2orf42 EXON Missense_A294S exm199719 2 70406721 [A/G] NM_017880 C2orf42 EXON Missense_S293P exm199729 2 70408444 [A/G] NM_017880 C2orf42 EXON Missense_S225F exm199739 2 70408702 [A/G] NM_017880 C2orf42 EXON Missense_A139V exm2273796 2 70408758 [A/G] NM_017880 C2orf42 EXON Synonymous_C120C exm199755 2 70409090 [G/C] NM_017880 C2orf42 EXON Missense_V10L exm199757 2 70439865 [A/C] NM_022037,NM_022173 TIA1,TIA1 EXON Missense_Y372D,Missense_Y383D exm199762 2 70439934 [T/C] NM_022037,NM_022173 TIA1,TIA1 EXON Missense_V349M,Missense_V360M exm199763 2 70439942 [T/C] NM_022037,NM_022173 TIA1,TIA1 EXON Missense_N346S,Missense_N357S exm199765 2 70441509 [T/C] NM_022037,NM_022173 TIA1,TIA1 EXON Missense_G325S,Missense_G336S exm199766 2 70441524 [T/C] NM_022037,NM_022173 TIA1,TIA1 EXON Missense_A320T,Missense_A331T exm199767 2 70441562 [T/C] NM_022037,NM_022173 TIA1,TIA1 EXON Missense_Q307R,Missense_Q318R exm199768 2 70441568 [C/G] NM_022037,NM_022173 TIA1,TIA1 EXON Missense_A305G,Missense_A316G exm199770 2 70442511 [T/C] NM_022037,NM_022173 TIA1,TIA1 EXON Missense_V283M,Missense_V294M exm199780 2 70444092 [T/C] NM_022037,NM_022173 TIA1,TIA1 EXON Missense_Q159R,Missense_Q170R exm199823 2 70488470 [T/C] NM_016297 PCYOX1 EXON Missense_S149F exm199832 2 70502291 [A/G] NM_016297 PCYOX1 EXON Missense_N232S exm199837 2 70502729 [A/G] NM_016297 PCYOX1 EXON Missense_A264T exm199838 2 70502735 [A/G] NM_016297 PCYOX1 EXON Missense_K266E exm199839 2 70502747 [A/G] NM_016297 PCYOX1 EXON Missense_I270V exm199844 2 70503917 [A/G] NM_016297 PCYOX1 EXON Missense_R304H exm199856 2 70504169 [G/C] NM_016297 PCYOX1 EXON Missense_S388C exm199857 2 70504229 [T/C] NM_016297 PCYOX1 EXON Missense_F408S exm2237943 2 70504247 [G/C] NM_016297 PCYOX1 EXON Missense_T414S exm199862 2 70504379 [A/G] NM_016297 PCYOX1 EXON Missense_N458S exm199864 2 70504399 [A/G] NM_016297 PCYOX1 EXON Missense_S465G exm2265326 2 70524142 [A/G] NM_032822 FAM136A EXON Silent exm199906 2 70524606 [A/G] NM_032822 FAM136A EXON Missense_R78C exm199908 2 70527998 [A/C] NM_032822 FAM136A EXON Missense_V68F exm199915 2 70528057 [T/C] NM_032822 FAM136A EXON Missense_K48R exm199936 2 70680410 [A/G] NM_003236,NM_001099691 TGFA,TGFA EXON Missense_R139W,Missense_R138W exm199937 2 70680445 [T/C] NM_003236,NM_001099691 TGFA,TGFA EXON Missense_R127Q,Missense_R126Q exm199938 2 70683511 [T/C] NM_003236,NM_001099691 TGFA,TGFA EXON Missense_V109M,Missense_V108M exm199950 2 70692857 [T/C] NM_003236,NM_001099691 TGFA,TGFA EXON Missense_V36M,Missense_V35M exm-rs454305 2 70736219 [A/G] NM_003236,NM_001099691 TGFA,TGFA Silent,Silent exm199958 2 70742005 [A/G] NM_003236,NM_001099691 TGFA,TGFA EXON Missense_T27M,Missense_T27M exm199959 2 70742010 [G/C] NM_003236,NM_001099691 TGFA,TGFA EXON Missense_N25K,Missense_N25K exm2255468 2 70867644 [T/G] exm199997 2 70890835 [T/C] NM_001617,NM_017488,NM_001185054 ADD2,ADD2,ADD2 EXON Missense_A635T,Silent,Missense_A635T exm200003 2 70900063 [A/G] NM_001617,NM_017488,NM_001185054 ADD2,ADD2,ADD2 EXON Missense_A606V,Nonsense_R635X,Missense_A606V exm200008 2 70900420 [T/C] NM_001617,NM_017488,NM_001185054 ADD2,ADD2,ADD2 EXON Silent,Missense_V594M,Silent exm200011 2 70900443 [T/C] NM_001617,NM_017488,NM_001185054 ADD2,ADD2,ADD2 EXON Silent,Missense_R586Q,Silent exm2026530 2 70900444 [A/G] NM_001617,NM_017488,NM_001185054 ADD2,ADD2,ADD2 EXON Silent,Nonsense_R586X,Silent exm200014 2 70901896 [A/G] NM_001617,NM_017488,NM_001185054 ADD2,ADD2,ADD2 EXON Missense_T552M,Missense_T552M,Missense_T552M exm200017 2 70901924 [T/C] NM_001617,NM_017488,NM_001185054 ADD2,ADD2,ADD2 EXON Missense_E543K,Missense_E543K,Missense_E543K exm200018 2 70903881 [A/G] NM_001617,NM_017488,NM_001185054,NM_017482,NM_001185055 ADD2,ADD2,ADD2,ADD2,ADD2 EXON Silent,Silent,Silent,Missense_S547L,Missense_S563L exm200033 2 70905912 [A/G] NM_001617,NM_017488,NM_001185054,NM_017482,NM_001185055 ADD2,ADD2,ADD2,ADD2,ADD2 EXON Missense_T436M,Missense_T436M,Missense_T436M,Missense_T436M,Missense_T452M exm200037 2 70905997 [T/C] NM_001617,NM_017488,NM_001185054,NM_017482,NM_001185055 ADD2,ADD2,ADD2,ADD2,ADD2 EXON Missense_V408M,Missense_V408M,Missense_V408M,Missense_V408M,Missense_V424M exm200041 2 70906074 [A/G] NM_001617,NM_017488,NM_001185054,NM_017482,NM_001185055 ADD2,ADD2,ADD2,ADD2,ADD2 EXON Missense_T382M,Missense_T382M,Missense_T382M,Missense_T382M,Missense_T398M exm200051 2 70910843 [A/C] NM_001617,NM_017488,NM_001185054,NM_017482,NM_001185055 ADD2,ADD2,ADD2,ADD2,ADD2 EXON Missense_E335D,Missense_E335D,Missense_E335D,Missense_E335D,Missense_E351D exm200052 2 70910844 [A/T] NM_001617,NM_017488,NM_001185054,NM_017482,NM_001185055 ADD2,ADD2,ADD2,ADD2,ADD2 EXON Missense_E335V,Missense_E335V,Missense_E335V,Missense_E335V,Missense_E351V exm200058 2 70915230 [A/C] NM_001617,NM_017488,NM_001185054,NM_017482,NM_001185055 ADD2,ADD2,ADD2,ADD2,ADD2 EXON Missense_V292L,Missense_V292L,Missense_V292L,Missense_V292L,Missense_V308L exm200060 2 70917935 [C/G] NM_001617,NM_017488,NM_001185054,NM_017482,NM_001185055 ADD2,ADD2,ADD2,ADD2,ADD2 EXON Missense_L278V,Missense_L278V,Missense_L278V,Missense_L278V,Missense_L294V exm200078 2 70923454 [T/G] NM_001617,NM_017488,NM_001185054,NM_017482,NM_001185055 ADD2,ADD2,ADD2,ADD2,ADD2 EXON Missense_M133L,Missense_M133L,Missense_M133L,Missense_M133L,Missense_M149L exm200081 2 70931482 [G/C] NM_001617,NM_017488,NM_001185054,NM_017482,NM_001185055 ADD2,ADD2,ADD2,ADD2,ADD2 EXON Missense_S98C,Missense_S98C,Missense_S98C,Missense_S98C,Missense_S114C exm200090 2 70933416 [T/C] NM_001617,NM_017488,NM_001185054,NM_017482,NM_001185055 ADD2,ADD2,ADD2,ADD2,ADD2 EXON Missense_R42Q,Missense_R42Q,Missense_R42Q,Missense_R42Q,Missense_R58Q exm200092 2 70933459 [T/C] NM_001617,NM_017488,NM_001185054,NM_017482,NM_001185055 ADD2,ADD2,ADD2,ADD2,ADD2 EXON Missense_D28N,Missense_D28N,Missense_D28N,Missense_D28N,Missense_D44N exm200095 2 70933491 [T/C] NM_001617,NM_017488,NM_001185054,NM_017482,NM_001185055 ADD2,ADD2,ADD2,ADD2,ADD2 EXON Missense_G17E,Missense_G17E,Missense_G17E,Missense_G17E,Missense_G33E exm200096 2 70933494 [T/C] NM_001617,NM_017488,NM_001185054,NM_017482,NM_001185055 ADD2,ADD2,ADD2,ADD2,ADD2 EXON Missense_Q16R,Missense_Q16R,Missense_Q16R,Missense_Q16R,Missense_Q32R exm200099 2 70933542 [T/C] NM_001617,NM_017488,NM_001185054,NM_017482,NM_001185055 ADD2,ADD2,ADD2,ADD2,ADD2 EXON Silent,Silent,Silent,Silent,Missense_K16R exm200110 2 71012633 [C/G] NM_001004311 FIGLA EXON Missense_A175P exm200112 2 71012639 [A/G] NM_001004311 FIGLA EXON Missense_P173S exm200114 2 71012672 [A/T] NM_001004311 FIGLA EXON Missense_C162S exm200118 2 71012713 [A/G] NM_001004311 FIGLA EXON Missense_S148L exm200119 2 71012734 [C/G] NM_001004311 FIGLA EXON Missense_S141T exm200123 2 71014888 [T/G] NM_001004311 FIGLA EXON Missense_P93T exm200124 2 71014917 [T/C] NM_001004311 FIGLA EXON Missense_R83H exm200134 2 71036417 [T/C] NM_001258027,NM_173535 CLEC4F,CLEC4F EXON Silent,Missense_I586V exm200135 2 71036432 [C/G] NM_001258027,NM_173535 CLEC4F,CLEC4F EXON Silent,Missense_P581A exm200139 2 71036482 [T/C] NM_001258027,NM_173535 CLEC4F,CLEC4F EXON Silent,Missense_K564R exm2026575 2 71036884 [T/C] NM_001258027,NM_173535 CLEC4F,CLEC4F EXON Missense_A549T,Missense_A549T exm200151 2 71036914 [A/G] NM_001258027,NM_173535 CLEC4F,CLEC4F EXON Missense_R539C,Missense_R539C exm200152 2 71036928 [C/G] NM_001258027,NM_173535 CLEC4F,CLEC4F EXON Missense_T534R,Missense_T534R exm200153 2 71036931 [T/C] NM_001258027,NM_173535 CLEC4F,CLEC4F EXON Missense_G533D,Missense_G533D exm200155 2 71036961 [A/G] NM_001258027,NM_173535 CLEC4F,CLEC4F EXON Missense_V523A,Missense_V523A exm200156 2 71036982 [A/G] NM_001258027,NM_173535 CLEC4F,CLEC4F EXON Missense_L516P,Missense_L516P exm200157 2 71039583 [T/A] NM_001258027,NM_173535 CLEC4F,CLEC4F EXON Missense_E512V,Missense_E512V exm200159 2 71039626 [T/C] NM_001258027,NM_173535 CLEC4F,CLEC4F EXON Missense_V498M,Missense_V498M exm200160 2 71039638 [T/C] NM_001258027,NM_173535 CLEC4F,CLEC4F EXON Missense_E494K,Missense_E494K exm200161 2 71039655 [T/C] NM_001258027,NM_173535 CLEC4F,CLEC4F EXON Missense_K488R,Missense_K488R exm200171 2 71043293 [A/G] NM_001258027,NM_173535 CLEC4F,CLEC4F EXON Missense_T407I,Missense_T407I exm200174 2 71043332 [T/G] NM_001258027,NM_173535 CLEC4F,CLEC4F EXON Missense_K394T,Missense_K394T exm200177 2 71043375 [T/G] NM_001258027,NM_173535 CLEC4F,CLEC4F EXON Missense_N380H,Missense_N380H exm200181 2 71043407 [A/G] NM_001258027,NM_173535 CLEC4F,CLEC4F EXON Missense_V369A,Missense_V369A exm200184 2 71043461 [T/C] NM_001258027,NM_173535 CLEC4F,CLEC4F EXON Missense_R351H,Missense_R351H exm200186 2 71043467 [T/C] NM_001258027,NM_173535 CLEC4F,CLEC4F EXON Missense_N349S,Missense_N349S exm200188 2 71043516 [T/C] NM_001258027,NM_173535 CLEC4F,CLEC4F EXON Missense_V333M,Missense_V333M exm200196 2 71043728 [A/T] NM_001258027,NM_173535 CLEC4F,CLEC4F EXON Missense_D262V,Missense_D262V exm200198 2 71043762 [T/C] NM_001258027,NM_173535 CLEC4F,CLEC4F EXON Missense_N251D,Missense_N251D exm200204 2 71043809 [A/G] NM_001258027,NM_173535 CLEC4F,CLEC4F EXON Missense_T235M,Missense_T235M exm200208 2 71043896 [T/C] NM_001258027,NM_173535 CLEC4F,CLEC4F EXON Missense_E206G,Missense_E206G exm200211 2 71043925 [A/C] NM_001258027,NM_173535 CLEC4F,CLEC4F EXON Missense_Q196H,Missense_Q196H exm200214 2 71043959 [T/C] NM_001258027,NM_173535 CLEC4F,CLEC4F EXON Missense_E185G,Missense_E185G exm200217 2 71044076 [T/C] NM_001258027,NM_173535 CLEC4F,CLEC4F EXON Missense_N146S,Missense_N146S exm200220 2 71044211 [T/C] NM_001258027,NM_173535 CLEC4F,CLEC4F EXON Missense_R101Q,Missense_R101Q exm200228 2 71046535 [T/C] NM_001258027,NM_173535 CLEC4F,CLEC4F EXON Missense_V74I,Missense_V74I exm200234 2 71046913 [G/C] NM_001258027,NM_173535 CLEC4F,CLEC4F EXON Missense_V58L,Missense_V58L exm200237 2 71047009 [T/C] NM_001258027,NM_173535 CLEC4F,CLEC4F EXON Missense_A26T,Missense_A26T exm2277238 2 71047602 [A/G] NM_001258027,NM_173535 CLEC4F,CLEC4F EXON Synonymous_H18H,Synonymous_H18H exm200242 2 71047649 [T/C] NM_001258027,NM_173535 CLEC4F,CLEC4F EXON Missense_G3S,Missense_G3S exm200252 2 71058230 [A/T] NM_015717 CD207 EXON Missense_K313I exm200254 2 71058270 [G/C] NM_015717 CD207 EXON Missense_A300P exm200255 2 71058306 [T/C] NM_015717 CD207 EXON Missense_N288D exm200258 2 71058835 [A/G] NM_015717 CD207 EXON Missense_V278A exm200261 2 71058878 [A/G] NM_015717 CD207 EXON Missense_W264R exm200271 2 71060111 [A/G] NM_015717 CD207 EXON Missense_P213S exm2237952 2 71060782 [T/C] NM_015717 CD207 EXON Missense_R187Q exm-IND2-70914329 2 71060822 [I/D] NM_015717 CD207 EXON exm200284 2 71060976 [C/G] NM_015717 CD207 EXON Missense_Q122H exm200285 2 71061001 [T/A] NM_015717 CD207 EXON Missense_E114V exm200286 2 71061010 [A/G] NM_015717 CD207 EXON Missense_M111T exm200294 2 71061091 [T/C] NM_015717 CD207 EXON Missense_R84H exm200296 2 71061145 [T/C] NM_015717 CD207 EXON Missense_R66Q exm200299 2 71062628 [T/C] NM_015717 CD207 EXON Missense_V62I exm200302 2 71062648 [A/G] NM_015717 CD207 EXON Missense_A55V exm200327 2 71148281 [T/C] NM_012476 VAX2 EXON Missense_R101W exm200328 2 71148291 [A/G] NM_012476 VAX2 EXON Missense_R104Q exm200330 2 71148326 [T/C] NM_012476 VAX2 EXON Missense_R116C exm200331 2 71148348 [A/G] NM_012476 VAX2 EXON Missense_R123H exm200335 2 71148389 [T/C] NM_012476 VAX2 EXON Missense_R137C exm200337 2 71148395 [A/C] NM_012476 VAX2 EXON Missense_L139M exm200343 2 71159963 [C/G] NM_012476 VAX2 EXON Missense_R168G exm200345 2 71160011 [T/C] NM_012476 VAX2 EXON Missense_R184W exm200350 2 71160090 [T/C] NM_012476 VAX2 EXON Missense_L210P exm200352 2 71160118 [A/C] NM_012476 VAX2 EXON Missense_L219F exm200354 2 71160144 [A/G] NM_012476 VAX2 EXON Missense_R228H exm200359 2 71160186 [T/C] NM_012476 VAX2 EXON Missense_P242L exm200362 2 71160203 [G/C] NM_012476 VAX2 EXON Missense_V248L exm200368 2 71160261 [T/C] NM_012476 VAX2 EXON Missense_S267L exm200372 2 71160305 [A/G] NM_012476 VAX2 EXON Missense_A282T exm200378 2 71163086 [T/C] NM_001692 ATP6V1B1 EXON Missense_M1T exm200383 2 71163124 [A/G] NM_001692 ATP6V1B1 EXON Missense_G14S exm200406 2 71185197 [A/G] NM_001692 ATP6V1B1 EXON Missense_V66I exm200415 2 71185530 [A/G] NM_001692 ATP6V1B1 EXON Missense_R114Q exm200418 2 71185551 [A/T] NM_001692 ATP6V1B1 EXON Missense_M121K exm200425 2 71187104 [A/G] NM_001692 ATP6V1B1 EXON Missense_E161K exm200435 2 71188116 [T/G] NM_001692 ATP6V1B1 EXON Missense_H217Q exm200438 2 71188135 [A/G] NM_001692 ATP6V1B1 EXON Missense_V224I exm2026652 2 71190308 [A/G] NM_001692 ATP6V1B1 EXON Missense_E309G exm200453 2 71190322 [T/C] NM_001692 ATP6V1B1 EXON Missense_R314C exm200454 2 71190325 [T/C] NM_001692 ATP6V1B1 EXON Nonsense_R315X exm2026654 2 71190441 [T/C] NM_001692 ATP6V1B1 EXON Synonymous_D353D exm200469 2 71191623 [T/C] NM_001692 ATP6V1B1 EXON Missense_I400T exm200484 2 71192103 [A/G] NM_001692 ATP6V1B1 EXON Missense_R465H exm200489 2 71192202 [A/G] NM_001692 ATP6V1B1 EXON Missense_Y498C exm200494 2 71205795 [T/C] NM_001115116,NM_024933 ANKRD53,ANKRD53 EXON Missense_T7I,Missense_T7I exm2026663 2 71206367 [T/C] NM_001115116,NM_024933 ANKRD53,ANKRD53 EXON Missense_T104M,Missense_T104M exm200506 2 71206370 [G/C] NM_001115116,NM_024933 ANKRD53,ANKRD53 EXON Missense_A105G,Missense_A105G exm200507 2 71206384 [T/G] NM_001115116,NM_024933 ANKRD53,ANKRD53 EXON Missense_Y110D,Missense_Y110D exm200518 2 71206971 [T/A] NM_001115116,NM_024933 ANKRD53,ANKRD53 EXON Nonsense_K200X,Nonsense_K200X exm200520 2 71206977 [A/G] NM_001115116,NM_024933 ANKRD53,ANKRD53 EXON Missense_A202T,Missense_A202T exm200528 2 71209176 [T/C] NM_001115116,NM_024933 ANKRD53,ANKRD53 EXON Missense_M243T,Missense_M243T exm2026674 2 71209218 [A/G] NM_001115116,NM_024933 ANKRD53,ANKRD53 EXON Missense_R257H,Missense_R257H exm200532 2 71209229 [T/C] NM_001115116,NM_024933 ANKRD53,ANKRD53 EXON Missense_R261W,Missense_R261W exm200537 2 71209795 [T/C] NM_001115116,NM_024933 ANKRD53,ANKRD53 EXON Missense_L291F,Missense_L291F exm200545 2 71211751 [A/C] NM_001115116,NM_024933 ANKRD53,ANKRD53 EXON Missense_K305T,Silent exm2255470 2 71211815 [A/G] NM_001115116,NM_024933 ANKRD53,ANKRD53 EXON Synonymous_L326L,Silent exm200566 2 71212293 [T/C] NM_001115116,NM_024933 ANKRD53,ANKRD53 EXON Missense_R486W,Silent exm200567 2 71212300 [T/G] NM_001115116,NM_024933 ANKRD53,ANKRD53 EXON Missense_L488R,Silent exm200571 2 71212336 [T/C] NM_001115116,NM_024933 ANKRD53,ANKRD53 EXON Missense_M500T,Silent exm200606 2 71220864 [T/C] NM_144582 TEX261 EXON Missense_T38A exm200616 2 71221876 [T/C] NM_144582 TEX261 EXON Missense_M4I exm2265160 2 71246439 [A/G] exm2255471 2 71297695 [T/C] NM_017567 NAGK EXON Synonymous_D77D exm200634 2 71297922 [A/G] NM_017567 NAGK EXON Missense_A102T exm200641 2 71298831 [A/G] NM_017567 NAGK EXON Missense_G123S exm200648 2 71298930 [A/G] NM_017567 NAGK EXON Missense_G156S exm200652 2 71299831 [C/G] NM_017567 NAGK EXON Missense_S185C exm200655 2 71299848 [A/G] NM_017567 NAGK EXON Missense_G191S exm2255472 2 71305456 [T/C] NM_017567 NAGK EXON Synonymous_L331L exm200681 2 71305456 [T/C] NM_017567 NAGK EXON Synonymous_L331L exm200688 2 71337111 [C/G] NM_032601 MCEE EXON Missense_E174Q exm200690 2 71337203 [T/C] NM_032601 MCEE EXON Missense_R143H exm200691 2 71337204 [A/G] NM_032601 MCEE EXON Missense_R143C exm200696 2 71351403 [A/C] NM_032601 MCEE EXON Missense_R104L exm200699 2 71351487 [A/G] NM_032601 MCEE EXON Missense_A76V exm200700 2 71351488 [T/C] NM_032601 MCEE EXON Missense_A76T exm200706 2 71351575 [A/G] NM_032601 MCEE EXON Nonsense_R47X exm200709 2 71357309 [A/C] NM_032601 MCEE Silent exm2026728 2 71357884 [A/C] NM_005791 MPHOSPH10 EXON Missense_T30K exm200730 2 71360281 [T/C] NM_005791 MPHOSPH10 EXON Missense_R115C exm200733 2 71360356 [A/G] NM_005791 MPHOSPH10 EXON Missense_D140N exm200735 2 71360399 [A/G] NM_005791 MPHOSPH10 EXON Missense_N154S exm200737 2 71360431 [A/G] NM_005791 MPHOSPH10 EXON Missense_V165I exm200747 2 71360625 [T/G] NM_005791 MPHOSPH10 EXON Missense_E229D exm200755 2 71361156 [C/G] NM_005791 MPHOSPH10 EXON Missense_H283D exm200756 2 71361161 [T/G] NM_005791 MPHOSPH10 EXON Missense_D284E exm200757 2 71361180 [A/G] NM_005791 MPHOSPH10 EXON Missense_K291E exm200758 2 71361223 [A/G] NM_005791 MPHOSPH10 EXON Missense_S305N exm200779 2 71366957 [A/C] NM_005791 MPHOSPH10 EXON Missense_L425M exm200787 2 71371658 [A/T] NM_005791 MPHOSPH10 EXON Missense_I516N exm200788 2 71371668 [A/G] NM_005791 MPHOSPH10 EXON Synonymous_P519P exm200792 2 71375207 [A/G] NM_005791 MPHOSPH10 EXON Missense_A546T exm200801 2 71376471 [A/G] NM_005791 MPHOSPH10 EXON Missense_R595Q exm200809 2 71376999 [A/G] NM_005791 MPHOSPH10 EXON Missense_E634K exm200811 2 71377014 [A/G] NM_005791 MPHOSPH10 EXON Missense_A639T exm200815 2 71377092 [A/G] NM_005791 MPHOSPH10 EXON Missense_E665K exm2273355 2 71415479 [T/C] NM_020459 PAIP2B EXON Silent exm2026753 2 71429659 [A/T] NM_020459 PAIP2B EXON Missense_L21I exm200843 2 71576163 [T/C] NM_014497,NM_001252612,NM_001252613,NM_001014972 ZNF638,ZNF638,ZNF638,ZNF638 EXON Missense_P27S,Missense_P27S,Missense_P27S,Missense_P27S exm200845 2 71576185 [A/C] NM_014497,NM_001252612,NM_001252613,NM_001014972 ZNF638,ZNF638,ZNF638,ZNF638 EXON Missense_P34H,Missense_P34H,Missense_P34H,Missense_P34H exm200855 2 71576412 [A/G] NM_014497,NM_001252612,NM_001252613,NM_001014972 ZNF638,ZNF638,ZNF638,ZNF638 EXON Missense_I110V,Missense_I110V,Missense_I110V,Missense_I110V exm2026760 2 71576806 [A/C] NM_014497,NM_001252612,NM_001252613,NM_001014972 ZNF638,ZNF638,ZNF638,ZNF638 EXON Missense_E241A,Missense_E241A,Missense_E241A,Missense_E241A exm2026761 2 71576853 [A/G] NM_014497,NM_001252612,NM_001252613,NM_001014972 ZNF638,ZNF638,ZNF638,ZNF638 EXON Missense_V257M,Missense_V257M,Missense_V257M,Missense_V257M exm200869 2 71576868 [A/G] NM_014497,NM_001252612,NM_001252613,NM_001014972 ZNF638,ZNF638,ZNF638,ZNF638 EXON Missense_M262V,Missense_M262V,Missense_M262V,Missense_M262V exm200881 2 71577015 [A/G] NM_014497,NM_001252612,NM_001252613,NM_001014972 ZNF638,ZNF638,ZNF638,ZNF638 EXON Missense_V311I,Missense_V311I,Missense_V311I,Missense_V311I exm200883 2 71577027 [A/G] NM_014497,NM_001252612,NM_001252613,NM_001014972 ZNF638,ZNF638,ZNF638,ZNF638 EXON Missense_I315V,Missense_I315V,Missense_I315V,Missense_I315V exm200885 2 71577100 [T/C] NM_014497,NM_001252612,NM_001252613,NM_001014972 ZNF638,ZNF638,ZNF638,ZNF638 EXON Missense_S339L,Missense_S339L,Missense_S339L,Missense_S339L exm200891 2 71577172 [A/C] NM_014497,NM_001252612,NM_001252613,NM_001014972 ZNF638,ZNF638,ZNF638,ZNF638 EXON Missense_H363P,Missense_H363P,Missense_H363P,Missense_H363P exm2026767 2 71577285 [T/G] NM_014497,NM_001252612,NM_001252613,NM_001014972 ZNF638,ZNF638,ZNF638,ZNF638 EXON Missense_A401S,Missense_A401S,Missense_A401S,Missense_A401S exm200901 2 71591142 [T/C] NM_014497,NM_001252612,NM_001252613,NM_001014972 ZNF638,ZNF638,ZNF638,ZNF638 EXON Missense_P493S,Missense_P493S,Missense_P493S,Missense_P493S exm200909 2 71591203 [A/G] NM_014497,NM_001252612,NM_001252613,NM_001014972 ZNF638,ZNF638,ZNF638,ZNF638 EXON Missense_H513R,Missense_H513R,Missense_H513R,Missense_H513R exm200916 2 71591329 [C/G] NM_014497,NM_001252612,NM_001252613,NM_001014972 ZNF638,ZNF638,ZNF638,ZNF638 EXON Missense_C555S,Missense_C555S,Missense_C555S,Missense_C555S exm200917 2 71591340 [A/G] NM_014497,NM_001252612,NM_001252613,NM_001014972 ZNF638,ZNF638,ZNF638,ZNF638 EXON Missense_V559I,Missense_V559I,Missense_V559I,Missense_V559I exm2026777 2 71592595 [T/C] NM_014497,NM_001252612,NM_001252613,NM_001014972 ZNF638,ZNF638,ZNF638,ZNF638 EXON Missense_S585F,Missense_S585F,Missense_S585F,Missense_S585F exm200924 2 71592675 [A/T] NM_014497,NM_001252612,NM_001252613,NM_001014972 ZNF638,ZNF638,ZNF638,ZNF638 EXON Missense_T612S,Missense_T612S,Missense_T612S,Missense_T612S exm200928 2 71592714 [A/G] NM_014497,NM_001252612,NM_001252613,NM_001014972 ZNF638,ZNF638,ZNF638,ZNF638 EXON Missense_A625T,Missense_A625T,Missense_A625T,Missense_A625T exm200929 2 71592723 [A/G] NM_014497,NM_001252612,NM_001252613,NM_001014972 ZNF638,ZNF638,ZNF638,ZNF638 EXON Missense_S628G,Missense_S628G,Missense_S628G,Missense_S628G exm200938 2 71595602 [T/G] NM_014497,NM_001252612,NM_001252613,NM_001014972 ZNF638,ZNF638,ZNF638,ZNF638 EXON Missense_L696V,Missense_L696V,Missense_L696V,Missense_L696V exm200949 2 71607662 [A/G] NM_014497,NM_001252612,NM_001252613,NM_001014972 ZNF638,ZNF638,ZNF638,ZNF638 EXON Missense_K782E,Missense_K782E,Missense_K782E,Missense_K782E exm200962 2 71623282 [A/C] NM_014497,NM_001252612,NM_001252613,NM_001014972 ZNF638,ZNF638,ZNF638,ZNF638 EXON Missense_Q797K,Missense_Q797K,Missense_Q797K,Missense_Q797K exm200969 2 71625864 [A/C] NM_014497,NM_001252612,NM_001252613,NM_001014972 ZNF638,ZNF638,ZNF638,ZNF638 EXON Missense_T821K,Missense_T821K,Missense_T821K,Missense_T821K exm200975 2 71626704 [A/G] NM_014497,NM_001252612,NM_001252613,NM_001014972 ZNF638,ZNF638,ZNF638,ZNF638 EXON Missense_K839R,Missense_K839R,Missense_K839R,Missense_K839R exm2255474 2 71626765 [G/C] NM_014497,NM_001252612,NM_001252613,NM_001014972 ZNF638,ZNF638,ZNF638,ZNF638 EXON Synonymous_V859V,Synonymous_V859V,Synonymous_V859V,Synonymous_V859V exm2269284 2 71627539 [T/C] NM_014497,NM_001252612,NM_001252613,NM_001014972 ZNF638,ZNF638,ZNF638,ZNF638 Silent,Silent,Silent,Silent exm200995 2 71629100 [A/G] NM_014497,NM_001252612,NM_001252613,NM_001014972 ZNF638,ZNF638,ZNF638,ZNF638 EXON Missense_M904I,Missense_M904I,Missense_M904I,Missense_M904I exm201004 2 71631109 [A/G] NM_014497,NM_001252612,NM_001252613,NM_001014972 ZNF638,ZNF638,ZNF638,ZNF638 EXON Missense_N980S,Missense_N980S,Missense_N980S,Missense_N980S exm201008 2 71633283 [A/G] NM_014497,NM_001252612,NM_001252613,NM_001014972 ZNF638,ZNF638,ZNF638,ZNF638 EXON Missense_R1009Q,Missense_R1009Q,Missense_R1009Q,Missense_R1009Q exm-rs6714975 2 71633389 [T/C] NM_014497,NM_001252612,NM_001252613,NM_001014972 ZNF638,ZNF638,ZNF638,ZNF638 EXON Synonymous_N1044N,Synonymous_N1044N,Synonymous_N1044N,Synonymous_N1044N exm201024 2 71645762 [A/G] NM_014497,NM_001252612,NM_001252613,NM_001014972 ZNF638,ZNF638,ZNF638,ZNF638 EXON Missense_K1098E,Missense_K1098E,Missense_K1098E,Missense_K1098E exm201028 2 71649966 [A/G] NM_014497,NM_001252612,NM_001252613,NM_001014972 ZNF638,ZNF638,ZNF638,ZNF638 EXON Missense_I1108V,Missense_I1108V,Missense_I1108V,Missense_I1108V exm201040 2 71650231 [A/G] NM_014497,NM_001252612,NM_001252613,NM_001014972 ZNF638,ZNF638,ZNF638,ZNF638 EXON Missense_E1196G,Missense_E1196G,Missense_E1196G,Missense_E1196G exm201041 2 71650236 [T/C] NM_014497,NM_001252612,NM_001252613,NM_001014972 ZNF638,ZNF638,ZNF638,ZNF638 EXON Missense_C1198R,Missense_C1198R,Missense_C1198R,Missense_C1198R exm2026820 2 71650426 [G/C] NM_014497,NM_001252612,NM_001252613,NM_001014972 ZNF638,ZNF638,ZNF638,ZNF638 EXON Missense_A1261G,Missense_A1261G,Missense_A1261G,Missense_A1261G exm2026823 2 71650647 [A/G] NM_014497,NM_001252612,NM_001252613,NM_001014972 ZNF638,ZNF638,ZNF638,ZNF638 EXON Missense_E1335K,Missense_E1335K,Missense_E1335K,Missense_E1335K exm201059 2 71650824 [A/G] NM_014497,NM_001252612,NM_001252613,NM_001014972 ZNF638,ZNF638,ZNF638,ZNF638 EXON Missense_I1394V,Missense_I1394V,Missense_I1394V,Missense_I1394V exm201067 2 71651029 [A/G] NM_014497,NM_001252612,NM_001252613,NM_001014972 ZNF638,ZNF638,ZNF638,ZNF638 EXON Missense_S1462N,Missense_S1462N,Missense_S1462N,Missense_S1462N exm201084 2 71653848 [A/G] NM_014497,NM_001252612,NM_001252613,NM_001014972 ZNF638,ZNF638,ZNF638,ZNF638 EXON Missense_A1617T,Missense_A1617T,Missense_A1617T,Missense_A1617T exm201090 2 71653956 [A/G] NM_014497,NM_001252612,NM_001252613,NM_001014972 ZNF638,ZNF638,ZNF638,ZNF638 EXON Missense_D1653N,Missense_D1653N,Missense_D1653N,Missense_D1653N exm201092 2 71654175 [A/G] NM_014497,NM_001252612,NM_001252613,NM_001014972 ZNF638,ZNF638,ZNF638,ZNF638 EXON Missense_V1726M,Missense_V1726M,Missense_V1726M,Missense_V1726M exm201100 2 71654389 [A/G] NM_014497,NM_001252612,NM_001252613,NM_001014972 ZNF638,ZNF638,ZNF638,ZNF638 EXON Missense_S1797N,Missense_S1797N,Missense_S1797N,Missense_S1797N exm201105 2 71655679 [A/G] NM_014497,NM_001252612,NM_001252613,NM_001014972 ZNF638,ZNF638,ZNF638,ZNF638 EXON Missense_K1850E,Missense_K1850E,Missense_K1850E,Missense_K1850E exm201107 2 71655733 [G/C] NM_014497,NM_001252612,NM_001252613,NM_001014972 ZNF638,ZNF638,ZNF638,ZNF638 EXON Missense_V1868L,Missense_V1868L,Missense_V1868L,Missense_V1868L exm201115 2 71658541 [T/C] NM_014497,NM_001252612,NM_001252613,NM_001014972 ZNF638,ZNF638,ZNF638,ZNF638 EXON Missense_A1912V,Missense_A1912V,Missense_A1912V,Missense_A1912V exm201116 2 71658556 [A/C] NM_014497,NM_001252612,NM_001252613,NM_001014972 ZNF638,ZNF638,ZNF638,ZNF638 EXON Missense_E1917A,Missense_E1917A,Missense_E1917A,Missense_E1917A exm201119 2 71660336 [A/G] NM_014497,NM_001252612,NM_001252613,NM_001014972 ZNF638,ZNF638,ZNF638,ZNF638 EXON Missense_I1932V,Missense_I1932V,Silent,Missense_I1932V exm201129 2 71709066 [G/C] NM_001130979,NM_001130978,NM_001130980,NM_001130981,NM_003494,NM_001130977,NM_001130976,NM_001130982,NM_001130983,NM_001130984,NM_001130985,NM_001130455,NM_001130986,NM_001130987 DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF EXON Missense_V68L,Missense_V68L,Missense_V68L,Missense_V68L,Missense_V68L,Missense_V68L,Missense_V68L,Missense_V69L,Missense_V69L,Missense_V69L,Missense_V69L,Missense_V69L,Missense_V69L,Missense_V69L exm201138 2 71730412 [A/G] NM_001130979,NM_001130978,NM_001130980,NM_001130981,NM_003494,NM_001130977,NM_001130976,NM_001130982,NM_001130983,NM_001130984,NM_001130985,NM_001130455,NM_001130986,NM_001130987 DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF EXON Missense_N102S,Missense_N102S,Missense_N102S,Missense_N102S,Missense_N102S,Missense_N102S,Missense_N102S,Missense_N103S,Missense_N103S,Missense_N103S,Missense_N103S,Missense_N103S,Missense_N103S,Missense_N103S exm201156 2 71740851 [A/G] NM_001130979,NM_001130978,NM_001130980,NM_001130981,NM_003494,NM_001130977,NM_001130976,NM_001130982,NM_001130983,NM_001130984,NM_001130985,NM_001130455,NM_001130986,NM_001130987 DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF EXON Missense_G186R,Missense_G155R,Missense_G186R,Missense_G186R,Missense_G155R,Missense_G155R,Missense_G155R,Missense_G187R,Missense_G156R,Missense_G156R,Missense_G187R,Missense_G156R,Missense_G156R,Missense_G187R exm201161 2 71740884 [A/C] NM_001130979,NM_001130978,NM_001130980,NM_001130981,NM_003494,NM_001130977,NM_001130976,NM_001130982,NM_001130983,NM_001130984,NM_001130985,NM_001130455,NM_001130986,NM_001130987 DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF EXON Missense_T197P,Missense_T166P,Missense_T197P,Missense_T197P,Missense_T166P,Missense_T166P,Missense_T166P,Missense_T198P,Missense_T167P,Missense_T167P,Missense_T198P,Missense_T167P,Missense_T167P,Missense_T198P exm201163 2 71740897 [A/C] NM_001130979,NM_001130978,NM_001130980,NM_001130981,NM_003494,NM_001130977,NM_001130976,NM_001130982,NM_001130983,NM_001130984,NM_001130985,NM_001130455,NM_001130986,NM_001130987 DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF EXON Missense_A201E,Missense_A170E,Missense_A201E,Missense_A201E,Missense_A170E,Missense_A170E,Missense_A170E,Missense_A202E,Missense_A171E,Missense_A171E,Missense_A202E,Missense_A171E,Missense_A171E,Missense_A202E exm201167 2 71740953 [C/G] NM_001130979,NM_001130978,NM_001130980,NM_001130981,NM_003494,NM_001130977,NM_001130976,NM_001130982,NM_001130983,NM_001130984,NM_001130985,NM_001130455,NM_001130986,NM_001130987 DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF EXON Missense_L220V,Missense_L189V,Missense_L220V,Missense_L220V,Missense_L189V,Missense_L189V,Missense_L189V,Missense_L221V,Missense_L190V,Missense_L190V,Missense_L221V,Missense_L190V,Missense_L190V,Missense_L221V exm201175 2 71741010 [A/G] NM_001130979,NM_001130978,NM_001130980,NM_001130981,NM_003494,NM_001130977,NM_001130976,NM_001130982,NM_001130983,NM_001130984,NM_001130985,NM_001130455,NM_001130986,NM_001130987 DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF EXON Missense_T239A,Missense_T208A,Missense_T239A,Missense_T239A,Missense_T208A,Missense_T208A,Missense_T208A,Missense_T240A,Missense_T209A,Missense_T209A,Missense_T240A,Missense_T209A,Missense_T209A,Missense_T240A exm201183 2 71742765 [A/G] NM_001130979,NM_001130978,NM_001130980,NM_001130981,NM_003494,NM_001130977,NM_001130976,NM_001130982,NM_001130983,NM_001130984,NM_001130985,NM_001130455,NM_001130986,NM_001130987 DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF EXON Missense_V257M,Missense_V226M,Missense_V257M,Missense_V257M,Missense_V226M,Missense_V226M,Missense_V226M,Missense_V258M,Missense_V227M,Missense_V227M,Missense_V258M,Missense_V227M,Missense_V227M,Missense_V258M exm201186 2 71742787 [T/C] NM_001130979,NM_001130978,NM_001130980,NM_001130981,NM_003494,NM_001130977,NM_001130976,NM_001130982,NM_001130983,NM_001130984,NM_001130985,NM_001130455,NM_001130986,NM_001130987 DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF EXON Missense_P264L,Missense_P233L,Missense_P264L,Missense_P264L,Missense_P233L,Missense_P233L,Missense_P233L,Missense_P265L,Missense_P234L,Missense_P234L,Missense_P265L,Missense_P234L,Missense_P234L,Missense_P265L exm201190 2 71742796 [A/C] NM_001130979,NM_001130978,NM_001130980,NM_001130981,NM_003494,NM_001130977,NM_001130976,NM_001130982,NM_001130983,NM_001130984,NM_001130985,NM_001130455,NM_001130986,NM_001130987 DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF EXON Missense_N267T,Missense_N236T,Missense_N267T,Missense_N267T,Missense_N236T,Missense_N236T,Missense_N236T,Missense_N268T,Missense_N237T,Missense_N237T,Missense_N268T,Missense_N237T,Missense_N237T,Missense_N268T exm201195 2 71742846 [T/C] NM_001130979,NM_001130978,NM_001130980,NM_001130981,NM_003494,NM_001130977,NM_001130976,NM_001130982,NM_001130983,NM_001130984,NM_001130985,NM_001130455,NM_001130986,NM_001130987 DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF EXON Missense_R284W,Missense_R253W,Missense_R284W,Missense_R284W,Missense_R253W,Missense_R253W,Missense_R253W,Missense_R285W,Missense_R254W,Missense_R254W,Missense_R285W,Missense_R254W,Missense_R254W,Missense_R285W exm201196 2 71742847 [A/G] NM_001130979,NM_001130978,NM_001130980,NM_001130981,NM_003494,NM_001130977,NM_001130976,NM_001130982,NM_001130983,NM_001130984,NM_001130985,NM_001130455,NM_001130986,NM_001130987 DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF EXON Missense_R284Q,Missense_R253Q,Missense_R284Q,Missense_R284Q,Missense_R253Q,Missense_R253Q,Missense_R253Q,Missense_R285Q,Missense_R254Q,Missense_R254Q,Missense_R285Q,Missense_R254Q,Missense_R254Q,Missense_R285Q exm201198 2 71742878 [T/G] NM_001130979,NM_001130978,NM_001130980,NM_001130981,NM_003494,NM_001130977,NM_001130976,NM_001130982,NM_001130983,NM_001130984,NM_001130985,NM_001130455,NM_001130986,NM_001130987 DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF EXON Missense_N294K,Missense_N263K,Missense_N294K,Missense_N294K,Missense_N263K,Missense_N263K,Missense_N263K,Missense_N295K,Missense_N264K,Missense_N264K,Missense_N295K,Missense_N264K,Missense_N264K,Missense_N295K exm201217 2 71748030 [T/C] NM_001130979,NM_001130978,NM_001130980,NM_001130981,NM_003494,NM_001130977,NM_001130976,NM_001130982,NM_001130983,NM_001130984,NM_001130985,NM_001130455,NM_001130986,NM_001130987 DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF EXON Missense_A381V,Missense_A350V,Missense_A381V,Missense_A381V,Missense_A350V,Missense_A350V,Missense_A350V,Missense_A382V,Missense_A351V,Missense_A351V,Missense_A382V,Missense_A351V,Missense_A351V,Missense_A382V exm2026889 2 71748034 [T/G] NM_001130979,NM_001130978,NM_001130980,NM_001130981,NM_003494,NM_001130977,NM_001130976,NM_001130982,NM_001130983,NM_001130984,NM_001130985,NM_001130455,NM_001130986,NM_001130987 DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF EXON Synonymous_P382P,Synonymous_P351P,Synonymous_P382P,Synonymous_P382P,Synonymous_P351P,Synonymous_P351P,Synonymous_P351P,Synonymous_P383P,Synonymous_P352P,Synonymous_P352P,Synonymous_P383P,Synonymous_P352P,Synonymous_P352P,Synonymous_P383P exm201229 2 71755439 [A/G] NM_001130979,NM_001130978,NM_001130980,NM_001130981,NM_003494,NM_001130977,NM_001130976,NM_001130982,NM_001130983,NM_001130984,NM_001130985,NM_001130455,NM_001130986,NM_001130987 DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF EXON Missense_V429M,Missense_V398M,Missense_V429M,Missense_V429M,Missense_V398M,Missense_V398M,Missense_V398M,Missense_V430M,Missense_V399M,Missense_V399M,Missense_V430M,Missense_V399M,Missense_V399M,Missense_V430M exm201231 2 71755480 [A/C] NM_001130979,NM_001130978,NM_001130980,NM_001130981,NM_003494,NM_001130977,NM_001130976,NM_001130982,NM_001130983,NM_001130984,NM_001130985,NM_001130455,NM_001130986,NM_001130987 DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF EXON Missense_N442K,Missense_N411K,Missense_N442K,Missense_N442K,Missense_N411K,Missense_N411K,Missense_N411K,Missense_N443K,Missense_N412K,Missense_N412K,Missense_N443K,Missense_N412K,Missense_N412K,Missense_N443K exm201232 2 71755521 [T/C] NM_001130979,NM_001130978,NM_001130980,NM_001130981,NM_003494,NM_001130977,NM_001130976,NM_001130982,NM_001130983,NM_001130984,NM_001130985,NM_001130455,NM_001130986,NM_001130987 DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF EXON Missense_A456V,Missense_A425V,Missense_A456V,Missense_A456V,Missense_A425V,Missense_A425V,Missense_A425V,Missense_A457V,Missense_A426V,Missense_A426V,Missense_A457V,Missense_A426V,Missense_A426V,Missense_A457V exm201236 2 71762217 [A/G] NM_001130979,NM_001130978,NM_001130980,NM_001130981,NM_003494,NM_001130977,NM_001130976,NM_001130982,NM_001130983,NM_001130984,NM_001130985,NM_001130455,NM_001130986,NM_001130987 DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF EXON Missense_M482V,Missense_M451V,Missense_M482V,Missense_M482V,Missense_M451V,Missense_M451V,Missense_M451V,Missense_M483V,Missense_M452V,Missense_M452V,Missense_M483V,Missense_M452V,Missense_M452V,Missense_M483V exm201237 2 71762219 [A/G] NM_001130979,NM_001130978,NM_001130980,NM_001130981,NM_003494,NM_001130977,NM_001130976,NM_001130982,NM_001130983,NM_001130984,NM_001130985,NM_001130455,NM_001130986,NM_001130987 DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF EXON Missense_M482I,Missense_M451I,Missense_M482I,Missense_M482I,Missense_M451I,Missense_M451I,Missense_M451I,Missense_M483I,Missense_M452I,Missense_M452I,Missense_M483I,Missense_M452I,Missense_M452I,Missense_M483I exm201240 2 71762413 [A/G] NM_001130979,NM_001130978,NM_001130980,NM_001130981,NM_003494,NM_001130977,NM_001130976,NM_001130982,NM_001130983,NM_001130984,NM_001130985,NM_001130455,NM_001130986,NM_001130987 DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF EXON Missense_E488K,Missense_E457K,Missense_E488K,Missense_E488K,Missense_E457K,Missense_E457K,Missense_E457K,Missense_E489K,Missense_E458K,Missense_E458K,Missense_E489K,Missense_E458K,Missense_E458K,Missense_E489K exm2237966 2 71766346 [T/C] NM_001130979,NM_001130978,NM_001130980,NM_001130981,NM_003494,NM_001130977,NM_001130976,NM_001130982,NM_001130983,NM_001130984,NM_001130985,NM_001130455,NM_001130986,NM_001130987 DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF EXON Missense_S517F,Missense_S486F,Missense_S517F,Missense_S517F,Missense_S486F,Missense_S486F,Missense_S486F,Missense_S518F,Missense_S487F,Missense_S487F,Missense_S518F,Missense_S487F,Missense_S487F,Missense_S518F exm201261 2 71778842 [T/C] NM_001130979,NM_001130978,NM_001130980,NM_001130981,NM_003494,NM_001130977,NM_001130976,NM_001130982,NM_001130983,NM_001130984,NM_001130985,NM_001130455,NM_001130986,NM_001130987 DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF EXON Missense_R613W,Missense_R582W,Missense_R599W,Missense_R599W,Missense_R582W,Missense_R568W,Missense_R568W,Missense_R614W,Missense_R583W,Missense_R569W,Missense_R600W,Missense_R583W,Missense_R569W,Missense_R600W exm201266 2 71780175 [T/C] NM_001130979,NM_001130978,NM_001130980,NM_001130981,NM_003494,NM_001130977,NM_001130976,NM_001130982,NM_001130983,NM_001130984,NM_001130985,NM_001130455,NM_001130986,NM_001130987 DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF EXON Missense_A627V,Missense_A596V,Missense_A613V,Missense_A613V,Missense_A596V,Missense_A582V,Missense_A582V,Missense_A628V,Missense_A597V,Missense_A583V,Missense_A614V,Missense_A597V,Missense_A583V,Missense_A614V exm201273 2 71780261 [A/G] NM_001130979,NM_001130978,NM_001130980,NM_001130981,NM_003494,NM_001130977,NM_001130976,NM_001130982,NM_001130983,NM_001130984,NM_001130985,NM_001130455,NM_001130986,NM_001130987 DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF EXON Missense_D656N,Missense_D625N,Missense_D642N,Missense_D642N,Missense_D625N,Missense_D611N,Missense_D611N,Missense_D657N,Missense_D626N,Missense_D612N,Missense_D643N,Missense_D626N,Missense_D612N,Missense_D643N exm201274 2 71780265 [T/C] NM_001130979,NM_001130978,NM_001130980,NM_001130981,NM_003494,NM_001130977,NM_001130976,NM_001130982,NM_001130983,NM_001130984,NM_001130985,NM_001130455,NM_001130986,NM_001130987 DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF EXON Missense_M657T,Missense_M626T,Missense_M643T,Missense_M643T,Missense_M626T,Missense_M612T,Missense_M612T,Missense_M658T,Missense_M627T,Missense_M613T,Missense_M644T,Missense_M627T,Missense_M613T,Missense_M644T exm201281 2 71780972 [A/G] NM_001130979,NM_001130978,NM_001130980,NM_001130981,NM_003494,NM_001130977,NM_001130976,NM_001130982,NM_001130983,NM_001130984,NM_001130985,NM_001130455,NM_001130986,NM_001130987 DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF EXON Missense_K687E,Missense_K656E,Missense_K673E,Missense_K673E,Missense_K656E,Missense_K642E,Missense_K642E,Missense_K688E,Missense_K657E,Missense_K643E,Missense_K674E,Missense_K657E,Missense_K643E,Missense_K674E exm201285 2 71781056 [T/C] NM_001130979,NM_001130978,NM_001130980,NM_001130981,NM_003494,NM_001130977,NM_001130976,NM_001130982,NM_001130983,NM_001130984,NM_001130985,NM_001130455,NM_001130986,NM_001130987 DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF EXON Missense_R715W,Missense_R684W,Missense_R701W,Missense_R701W,Missense_R684W,Missense_R670W,Missense_R670W,Missense_R716W,Missense_R685W,Missense_R671W,Missense_R702W,Missense_R685W,Missense_R671W,Missense_R702W exm201286 2 71781059 [G/C] NM_001130979,NM_001130978,NM_001130980,NM_001130981,NM_003494,NM_001130977,NM_001130976,NM_001130982,NM_001130983,NM_001130984,NM_001130985,NM_001130455,NM_001130986,NM_001130987 DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF EXON Missense_L716V,Missense_L685V,Missense_L702V,Missense_L702V,Missense_L685V,Missense_L671V,Missense_L671V,Missense_L717V,Missense_L686V,Missense_L672V,Missense_L703V,Missense_L686V,Missense_L672V,Missense_L703V exm201291 2 71783132 [T/C] NM_001130979,NM_001130978,NM_001130980,NM_001130981,NM_003494,NM_001130977,NM_001130976,NM_001130982,NM_001130983,NM_001130984,NM_001130985,NM_001130455,NM_001130986,NM_001130987 DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF EXON Missense_A729V,Missense_A698V,Missense_A715V,Missense_A715V,Missense_A698V,Missense_A684V,Missense_A684V,Missense_A730V,Missense_A699V,Missense_A685V,Missense_A716V,Missense_A699V,Missense_A685V,Missense_A716V exm2255475 2 71787796 [A/G] NM_001130979,NM_001130978,NM_001130980,NM_001130981,NM_003494,NM_001130977,NM_001130976,NM_001130982,NM_001130983,NM_001130984,NM_001130985,NM_001130455,NM_001130986,NM_001130987 DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm201304 2 71789000 [A/G] NM_001130979,NM_001130978,NM_001130980,NM_001130981,NM_003494,NM_001130977,NM_001130976,NM_001130982,NM_001130983,NM_001130984,NM_001130985,NM_001130455,NM_001130986,NM_001130987 DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF EXON Missense_G792S,Missense_G761S,Missense_G778S,Missense_G778S,Missense_G761S,Missense_G747S,Missense_G747S,Missense_G793S,Missense_G762S,Missense_G748S,Missense_G779S,Missense_G762S,Missense_G748S,Missense_G779S exm201309 2 71789052 [A/G] NM_001130979,NM_001130978,NM_001130980,NM_001130981,NM_003494,NM_001130977,NM_001130976,NM_001130982,NM_001130983,NM_001130984,NM_001130985,NM_001130455,NM_001130986,NM_001130987 DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF EXON Missense_R809H,Missense_R778H,Missense_R795H,Missense_R795H,Missense_R778H,Missense_R764H,Missense_R764H,Missense_R810H,Missense_R779H,Missense_R765H,Missense_R796H,Missense_R779H,Missense_R765H,Missense_R796H exm201311 2 71789067 [T/C] NM_001130979,NM_001130978,NM_001130980,NM_001130981,NM_003494,NM_001130977,NM_001130976,NM_001130982,NM_001130983,NM_001130984,NM_001130985,NM_001130455,NM_001130986,NM_001130987 DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF EXON Missense_A814V,Missense_A783V,Missense_A800V,Missense_A800V,Missense_A783V,Missense_A769V,Missense_A769V,Missense_A815V,Missense_A784V,Missense_A770V,Missense_A801V,Missense_A784V,Missense_A770V,Missense_A801V exm201317 2 71791255 [A/G] NM_001130979,NM_001130978,NM_001130980,NM_001130981,NM_003494,NM_001130977,NM_001130976,NM_001130982,NM_001130983,NM_001130984,NM_001130985,NM_001130455,NM_001130986,NM_001130987 DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF EXON Missense_R839Q,Missense_R808Q,Missense_R825Q,Missense_R825Q,Missense_R808Q,Missense_R794Q,Missense_R794Q,Missense_R840Q,Missense_R809Q,Missense_R795Q,Missense_R826Q,Missense_R809Q,Missense_R795Q,Missense_R826Q exm201321 2 71791332 [A/G] NM_001130979,NM_001130978,NM_001130980,NM_001130981,NM_003494,NM_001130977,NM_001130976,NM_001130982,NM_001130983,NM_001130984,NM_001130985,NM_001130455,NM_001130986,NM_001130987 DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF EXON Missense_I865V,Missense_I834V,Missense_I851V,Missense_I851V,Missense_I834V,Missense_I820V,Missense_I820V,Missense_I866V,Missense_I835V,Missense_I821V,Missense_I852V,Missense_I835V,Missense_I821V,Missense_I852V exm201322 2 71795105 [A/G] NM_001130979,NM_001130978,NM_001130980,NM_001130981,NM_003494,NM_001130977,NM_001130976,NM_001130982,NM_001130983,NM_001130984,NM_001130985,NM_001130455,NM_001130986,NM_001130987 DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF EXON Missense_A877T,Missense_A846T,Missense_A863T,Missense_A863T,Missense_A846T,Missense_A832T,Missense_A832T,Missense_A878T,Missense_A847T,Missense_A833T,Missense_A864T,Missense_A847T,Missense_A833T,Missense_A864T exm201323 2 71795108 [T/C] NM_001130979,NM_001130978,NM_001130980,NM_001130981,NM_003494,NM_001130977,NM_001130976,NM_001130982,NM_001130983,NM_001130984,NM_001130985,NM_001130455,NM_001130986,NM_001130987 DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF EXON Missense_R878W,Missense_R847W,Missense_R864W,Missense_R864W,Missense_R847W,Missense_R833W,Missense_R833W,Missense_R879W,Missense_R848W,Missense_R834W,Missense_R865W,Missense_R848W,Missense_R834W,Missense_R865W exm201326 2 71795157 [A/C] NM_001130979,NM_001130978,NM_001130980,NM_001130981,NM_003494,NM_001130977,NM_001130976,NM_001130982,NM_001130983,NM_001130984,NM_001130985,NM_001130455,NM_001130986,NM_001130987 DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF EXON Missense_D894A,Missense_D863A,Missense_D880A,Missense_D880A,Missense_D863A,Missense_D849A,Missense_D849A,Missense_D895A,Missense_D864A,Missense_D850A,Missense_D881A,Missense_D864A,Missense_D850A,Missense_D881A exm201328 2 71795183 [A/G] NM_001130979,NM_001130978,NM_001130980,NM_001130981,NM_003494,NM_001130977,NM_001130976,NM_001130982,NM_001130983,NM_001130984,NM_001130985,NM_001130455,NM_001130986,NM_001130987 DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF EXON Missense_E903K,Missense_E872K,Missense_E889K,Missense_E889K,Missense_E872K,Missense_E858K,Missense_E858K,Missense_E904K,Missense_E873K,Missense_E859K,Missense_E890K,Missense_E873K,Missense_E859K,Missense_E890K exm201329 2 71795213 [A/G] NM_001130979,NM_001130978,NM_001130980,NM_001130981,NM_003494,NM_001130977,NM_001130976,NM_001130982,NM_001130983,NM_001130984,NM_001130985,NM_001130455,NM_001130986,NM_001130987 DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm201335 2 71795329 [A/G] NM_001130979,NM_001130978,NM_001130980,NM_001130981,NM_003494,NM_001130977,NM_001130976,NM_001130982,NM_001130983,NM_001130984,NM_001130985,NM_001130455,NM_001130986,NM_001130987 DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF EXON Missense_V922I,Missense_V891I,Missense_V908I,Missense_V908I,Missense_V891I,Missense_V877I,Missense_V877I,Missense_V923I,Missense_V892I,Missense_V878I,Missense_V909I,Missense_V892I,Missense_V878I,Missense_V909I exm201345 2 71795459 [T/C] NM_001130979,NM_001130978,NM_001130980,NM_001130981,NM_003494,NM_001130977,NM_001130976,NM_001130982,NM_001130983,NM_001130984,NM_001130985,NM_001130455,NM_001130986,NM_001130987 DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF EXON Missense_P965L,Missense_P934L,Missense_P951L,Missense_P951L,Missense_P934L,Missense_P920L,Missense_P920L,Missense_P966L,Missense_P935L,Missense_P921L,Missense_P952L,Missense_P935L,Missense_P921L,Missense_P952L exm2237968 2 71795468 [T/C] NM_001130979,NM_001130978,NM_001130980,NM_001130981,NM_003494,NM_001130977,NM_001130976,NM_001130982,NM_001130983,NM_001130984,NM_001130985,NM_001130455,NM_001130986,NM_001130987 DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF EXON Missense_T968I,Missense_T937I,Missense_T954I,Missense_T954I,Missense_T937I,Missense_T923I,Missense_T923I,Missense_T969I,Missense_T938I,Missense_T924I,Missense_T955I,Missense_T938I,Missense_T924I,Missense_T955I exm201352 2 71797014 [T/C] NM_001130979,NM_001130978,NM_001130980,NM_001130981,NM_003494,NM_001130977,NM_001130976,NM_001130982,NM_001130983,NM_001130984,NM_001130985,NM_001130455,NM_001130986,NM_001130987 DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF EXON Missense_R990W,Missense_R959W,Missense_R976W,Missense_R976W,Missense_R959W,Missense_R945W,Missense_R945W,Missense_R991W,Missense_R960W,Missense_R946W,Missense_R977W,Missense_R960W,Missense_R946W,Missense_R977W exm201354 2 71797041 [T/A] NM_001130979,NM_001130978,NM_001130980,NM_001130981,NM_003494,NM_001130977,NM_001130976,NM_001130982,NM_001130983,NM_001130984,NM_001130985,NM_001130455,NM_001130986,NM_001130987 DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF EXON Missense_M999L,Missense_M968L,Missense_M985L,Missense_M985L,Missense_M968L,Missense_M954L,Missense_M954L,Missense_M1000L,Missense_M969L,Missense_M955L,Missense_M986L,Missense_M969L,Missense_M955L,Missense_M986L exm201358 2 71797381 [A/C] NM_001130979,NM_001130978,NM_001130980,NM_001130981,NM_003494,NM_001130977,NM_001130976,NM_001130982,NM_001130983,NM_001130984,NM_001130985,NM_001130455,NM_001130986,NM_001130987 DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF EXON Missense_K1014T,Missense_K983T,Missense_K1000T,Missense_K1000T,Missense_K983T,Missense_K969T,Missense_K969T,Missense_K1015T,Missense_K984T,Missense_K970T,Missense_K1001T,Missense_K984T,Missense_K970T,Missense_K1001T exm201363 2 71797762 [A/G] NM_001130979,NM_001130978,NM_001130980,NM_001130981,NM_003494,NM_001130977,NM_001130976,NM_001130982,NM_001130983,NM_001130984,NM_001130985,NM_001130455,NM_001130986,NM_001130987 DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF EXON Missense_R1053Q,Missense_R1022Q,Missense_R1039Q,Missense_R1039Q,Missense_R1022Q,Missense_R1008Q,Missense_R1008Q,Missense_R1054Q,Missense_R1023Q,Missense_R1009Q,Missense_R1040Q,Missense_R1023Q,Missense_R1009Q,Missense_R1040Q exm201368 2 71797813 [A/G] NM_001130979,NM_001130978,NM_001130980,NM_001130981,NM_003494,NM_001130977,NM_001130976,NM_001130982,NM_001130983,NM_001130984,NM_001130985,NM_001130455,NM_001130986,NM_001130987 DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF EXON Missense_R1070Q,Missense_R1039Q,Missense_R1056Q,Missense_R1056Q,Missense_R1039Q,Missense_R1025Q,Missense_R1025Q,Missense_R1071Q,Missense_R1040Q,Missense_R1026Q,Missense_R1057Q,Missense_R1040Q,Missense_R1026Q,Missense_R1057Q exm201369 2 71797818 [T/C] NM_001130979,NM_001130978,NM_001130980,NM_001130981,NM_003494,NM_001130977,NM_001130976,NM_001130982,NM_001130983,NM_001130984,NM_001130985,NM_001130455,NM_001130986,NM_001130987 DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF EXON Missense_R1072C,Missense_R1041C,Missense_R1058C,Missense_R1058C,Missense_R1041C,Missense_R1027C,Missense_R1027C,Missense_R1073C,Missense_R1042C,Missense_R1028C,Missense_R1059C,Missense_R1042C,Missense_R1028C,Missense_R1059C exm201375 2 71801334 [G/C] NM_001130979,NM_001130978,NM_001130980,NM_001130981,NM_003494,NM_001130977,NM_001130976,NM_001130982,NM_001130983,NM_001130984,NM_001130985,NM_001130455,NM_001130986,NM_001130987 DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF EXON Missense_Q1092E,Missense_Q1061E,Missense_Q1078E,Missense_Q1078E,Missense_Q1061E,Missense_Q1047E,Missense_Q1047E,Missense_Q1093E,Missense_Q1062E,Missense_Q1048E,Missense_Q1079E,Missense_Q1062E,Missense_Q1048E,Missense_Q1079E exm201386 2 71801439 [T/C] NM_001130979,NM_001130978,NM_001130980,NM_001130981,NM_003494,NM_001130977,NM_001130976,NM_001130982,NM_001130983,NM_001130984,NM_001130985,NM_001130455,NM_001130986,NM_001130987 DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF EXON Missense_R1127C,Missense_R1096C,Missense_R1113C,Missense_R1113C,Missense_R1096C,Missense_R1082C,Missense_R1082C,Missense_R1128C,Missense_R1097C,Missense_R1083C,Missense_R1114C,Missense_R1097C,Missense_R1083C,Missense_R1114C exm201387 2 71801440 [A/G] NM_001130979,NM_001130978,NM_001130980,NM_001130981,NM_003494,NM_001130977,NM_001130976,NM_001130982,NM_001130983,NM_001130984,NM_001130985,NM_001130455,NM_001130986,NM_001130987 DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF EXON Missense_R1127H,Missense_R1096H,Missense_R1113H,Missense_R1113H,Missense_R1096H,Missense_R1082H,Missense_R1082H,Missense_R1128H,Missense_R1097H,Missense_R1083H,Missense_R1114H,Missense_R1097H,Missense_R1083H,Missense_R1114H exm201388 2 71801442 [T/C] NM_001130979,NM_001130978,NM_001130980,NM_001130981,NM_003494,NM_001130977,NM_001130976,NM_001130982,NM_001130983,NM_001130984,NM_001130985,NM_001130455,NM_001130986,NM_001130987 DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF EXON Missense_R1128C,Missense_R1097C,Missense_R1114C,Missense_R1114C,Missense_R1097C,Missense_R1083C,Missense_R1083C,Missense_R1129C,Missense_R1098C,Missense_R1084C,Missense_R1115C,Missense_R1098C,Missense_R1084C,Missense_R1115C exm201394 2 71816762 [A/G] NM_001130979,NM_001130978,NM_001130980,NM_001130981,NM_003494,NM_001130977,NM_001130976,NM_001130982,NM_001130983,NM_001130984,NM_001130985,NM_001130455,NM_001130986,NM_001130987 DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF EXON Missense_V1161I,Missense_V1130I,Missense_V1147I,Missense_V1147I,Missense_V1130I,Missense_V1116I,Missense_V1116I,Missense_V1162I,Missense_V1131I,Missense_V1117I,Missense_V1148I,Missense_V1131I,Missense_V1117I,Missense_V1148I exm201399 2 71817349 [T/C] NM_001130979,NM_001130978,NM_001130980,NM_001130981,NM_003494,NM_001130977,NM_001130976,NM_001130982,NM_001130983,NM_001130984,NM_001130985,NM_001130455,NM_001130986,NM_001130987 DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF EXON Missense_R1182C,Missense_R1151C,Missense_R1168C,Missense_R1168C,Missense_R1151C,Missense_R1137C,Missense_R1137C,Missense_R1183C,Missense_R1152C,Missense_R1138C,Missense_R1169C,Missense_R1152C,Missense_R1138C,Missense_R1169C exm201403 2 71817385 [A/G] NM_001130979,NM_001130978,NM_001130980,NM_001130981,NM_003494,NM_001130977,NM_001130976,NM_001130982,NM_001130983,NM_001130984,NM_001130985,NM_001130455,NM_001130986,NM_001130987 DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF EXON Missense_D1194N,Missense_D1163N,Missense_D1180N,Missense_D1180N,Missense_D1163N,Missense_D1149N,Missense_D1149N,Missense_D1195N,Missense_D1164N,Missense_D1150N,Missense_D1181N,Missense_D1164N,Missense_D1150N,Missense_D1181N exm2026981 2 71825797 [C/G] NM_001130979,NM_001130978,NM_001130980,NM_001130981,NM_003494,NM_001130977,NM_001130976,NM_001130982,NM_001130983,NM_001130984,NM_001130985,NM_001130455,NM_001130986,NM_001130987 DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF EXON Missense_I1239M,Missense_I1208M,Missense_I1225M,Missense_I1225M,Missense_I1208M,Missense_I1194M,Missense_I1194M,Missense_I1240M,Missense_I1209M,Missense_I1195M,Missense_I1226M,Missense_I1209M,Missense_I1195M,Missense_I1226M exm201413 2 71825814 [T/C] NM_001130979,NM_001130978,NM_001130980,NM_001130981,NM_003494,NM_001130977,NM_001130976,NM_001130982,NM_001130983,NM_001130984,NM_001130985,NM_001130455,NM_001130986,NM_001130987 DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF EXON Missense_P1245L,Missense_P1214L,Missense_P1231L,Missense_P1231L,Missense_P1214L,Missense_P1200L,Missense_P1200L,Missense_P1246L,Missense_P1215L,Missense_P1201L,Missense_P1232L,Missense_P1215L,Missense_P1201L,Missense_P1232L exm201416 2 71825875 [T/C] NM_001130979,NM_001130978,NM_001130980,NM_001130981,NM_003494,NM_001130977,NM_001130976,NM_001130982,NM_001130983,NM_001130984,NM_001130985,NM_001130455,NM_001130986,NM_001130987 DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF EXON Synonymous_Y1265Y,Synonymous_Y1234Y,Synonymous_Y1251Y,Synonymous_Y1251Y,Synonymous_Y1234Y,Synonymous_Y1220Y,Synonymous_Y1220Y,Synonymous_Y1266Y,Synonymous_Y1235Y,Synonymous_Y1221Y,Synonymous_Y1252Y,Synonymous_Y1235Y,Synonymous_Y1221Y,Synonymous_Y1252Y exm201420 2 71827854 [A/G] NM_001130979,NM_001130978,NM_001130980,NM_001130981,NM_003494,NM_001130977,NM_001130976,NM_001130982,NM_001130983,NM_001130984,NM_001130985,NM_001130455,NM_001130986,NM_001130987 DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF EXON Missense_R1273H,Missense_R1242H,Missense_R1259H,Missense_R1259H,Missense_R1242H,Missense_R1228H,Missense_R1228H,Missense_R1274H,Missense_R1243H,Missense_R1229H,Missense_R1260H,Missense_R1243H,Missense_R1229H,Missense_R1260H exm201421 2 71827859 [A/G] NM_001130979,NM_001130978,NM_001130980,NM_001130981,NM_003494,NM_001130977,NM_001130976,NM_001130982,NM_001130983,NM_001130984,NM_001130985,NM_001130455,NM_001130986,NM_001130987 DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF EXON Missense_I1275V,Missense_I1244V,Missense_I1261V,Missense_I1261V,Missense_I1244V,Missense_I1230V,Missense_I1230V,Missense_I1276V,Missense_I1245V,Missense_I1231V,Missense_I1262V,Missense_I1245V,Missense_I1231V,Missense_I1262V exm201424 2 71827889 [T/C] NM_001130979,NM_001130978,NM_001130980,NM_001130981,NM_003494,NM_001130977,NM_001130976,NM_001130982,NM_001130983,NM_001130984,NM_001130985,NM_001130455,NM_001130986,NM_001130987 DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF EXON Missense_R1285W,Missense_R1254W,Missense_R1271W,Missense_R1271W,Missense_R1254W,Missense_R1240W,Missense_R1240W,Missense_R1286W,Missense_R1255W,Missense_R1241W,Missense_R1272W,Missense_R1255W,Missense_R1241W,Missense_R1272W exm2255476 2 71827927 [A/G] NM_001130979,NM_001130978,NM_001130980,NM_001130981,NM_003494,NM_001130977,NM_001130976,NM_001130982,NM_001130983,NM_001130984,NM_001130985,NM_001130455,NM_001130986,NM_001130987 DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF EXON Synonymous_P1297P,Synonymous_P1266P,Synonymous_P1283P,Synonymous_P1283P,Synonymous_P1266P,Synonymous_P1252P,Synonymous_P1252P,Synonymous_P1298P,Synonymous_P1267P,Synonymous_P1253P,Synonymous_P1284P,Synonymous_P1267P,Synonymous_P1253P,Synonymous_P1284P exm201435 2 71829924 [A/G] NM_001130979,NM_001130978,NM_001130980,NM_001130981,NM_003494,NM_001130977,NM_001130976,NM_001130982,NM_001130983,NM_001130984,NM_001130985,NM_001130455,NM_001130986,NM_001130987 DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF EXON Missense_I1329V,Missense_I1298V,Missense_I1315V,Missense_I1315V,Missense_I1298V,Missense_I1284V,Missense_I1284V,Missense_I1330V,Missense_I1299V,Missense_I1285V,Missense_I1316V,Missense_I1299V,Missense_I1285V,Missense_I1316V exm201437 2 71838385 [A/C] NM_001130979,NM_001130978,NM_001130980,NM_001130981,NM_003494,NM_001130977,NM_001130976,NM_001130982,NM_001130983,NM_001130984,NM_001130985,NM_001130455,NM_001130986,NM_001130987 DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF EXON Missense_T1336K,Missense_T1305K,Missense_T1322K,Missense_T1322K,Missense_T1305K,Missense_T1291K,Missense_T1291K,Missense_T1337K,Missense_T1306K,Missense_T1292K,Missense_T1323K,Missense_T1306K,Missense_T1292K,Missense_T1323K exm201439 2 71838438 [G/C] NM_001130979,NM_001130978,NM_001130980,NM_001130981,NM_003494,NM_001130977,NM_001130976,NM_001130982,NM_001130983,NM_001130984,NM_001130985,NM_001130455,NM_001130986,NM_001130987 DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF EXON Missense_Q1354E,Missense_Q1323E,Missense_Q1340E,Missense_Q1340E,Missense_Q1323E,Missense_Q1309E,Missense_Q1309E,Missense_Q1355E,Missense_Q1324E,Missense_Q1310E,Missense_Q1341E,Missense_Q1324E,Missense_Q1310E,Missense_Q1341E exm2255477 2 71838443 [T/C] NM_001130979,NM_001130978,NM_001130980,NM_001130981,NM_003494,NM_001130977,NM_001130976,NM_001130982,NM_001130983,NM_001130984,NM_001130985,NM_001130455,NM_001130986,NM_001130987 DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF EXON Synonymous_N1355N,Synonymous_N1324N,Synonymous_N1341N,Synonymous_N1341N,Synonymous_N1324N,Synonymous_N1310N,Synonymous_N1310N,Synonymous_N1356N,Synonymous_N1325N,Synonymous_N1311N,Synonymous_N1342N,Synonymous_N1325N,Synonymous_N1311N,Synonymous_N1342N exm201442 2 71838444 [A/G] NM_001130979,NM_001130978,NM_001130980,NM_001130981,NM_003494,NM_001130977,NM_001130976,NM_001130982,NM_001130983,NM_001130984,NM_001130985,NM_001130455,NM_001130986,NM_001130987 DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF EXON Missense_I1356V,Missense_I1325V,Missense_I1342V,Missense_I1342V,Missense_I1325V,Missense_I1311V,Missense_I1311V,Missense_I1357V,Missense_I1326V,Missense_I1312V,Missense_I1343V,Missense_I1326V,Missense_I1312V,Missense_I1343V exm201445 2 71838463 [T/G] NM_001130979,NM_001130978,NM_001130980,NM_001130981,NM_003494,NM_001130977,NM_001130976,NM_001130982,NM_001130983,NM_001130984,NM_001130985,NM_001130455,NM_001130986,NM_001130987 DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF EXON Missense_R1362L,Missense_R1331L,Missense_R1348L,Missense_R1348L,Missense_R1331L,Missense_R1317L,Missense_R1317L,Missense_R1363L,Missense_R1332L,Missense_R1318L,Missense_R1349L,Missense_R1332L,Missense_R1318L,Missense_R1349L exm2275591 2 71839801 [G/C] NM_001130979,NM_001130978,NM_001130980,NM_001130981,NM_003494,NM_001130977,NM_001130976,NM_001130982,NM_001130983,NM_001130984,NM_001130985,NM_001130455,NM_001130986,NM_001130987 DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF EXON Missense_P1431A,Missense_P1400A,Missense_P1417A,Missense_P1417A,Missense_P1400A,Missense_P1386A,Missense_P1386A,Missense_P1432A,Missense_P1401A,Missense_P1387A,Missense_P1418A,Missense_P1401A,Missense_P1387A,Missense_P1418A exm201459 2 71839802 [G/C] NM_001130979,NM_001130978,NM_001130980,NM_001130981,NM_003494,NM_001130977,NM_001130976,NM_001130982,NM_001130983,NM_001130984,NM_001130985,NM_001130455,NM_001130986,NM_001130987 DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF EXON Missense_P1431R,Missense_P1400R,Missense_P1417R,Missense_P1417R,Missense_P1400R,Missense_P1386R,Missense_P1386R,Missense_P1432R,Missense_P1401R,Missense_P1387R,Missense_P1418R,Missense_P1401R,Missense_P1387R,Missense_P1418R exm201466 2 71839898 [A/C] NM_001130979,NM_001130978,NM_001130980,NM_001130981,NM_003494,NM_001130977,NM_001130976,NM_001130982,NM_001130983,NM_001130984,NM_001130985,NM_001130455,NM_001130986,NM_001130987 DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF EXON Missense_P1463H,Missense_P1432H,Missense_P1449H,Missense_P1449H,Missense_P1432H,Missense_P1418H,Missense_P1418H,Missense_P1464H,Missense_P1433H,Missense_P1419H,Missense_P1450H,Missense_P1433H,Missense_P1419H,Missense_P1450H exm201467 2 71839904 [T/C] NM_001130979,NM_001130978,NM_001130980,NM_001130981,NM_003494,NM_001130977,NM_001130976,NM_001130982,NM_001130983,NM_001130984,NM_001130985,NM_001130455,NM_001130986,NM_001130987 DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF EXON Missense_S1465L,Missense_S1434L,Missense_S1451L,Missense_S1451L,Missense_S1434L,Missense_S1420L,Missense_S1420L,Missense_S1466L,Missense_S1435L,Missense_S1421L,Missense_S1452L,Missense_S1435L,Missense_S1421L,Missense_S1452L exm201471 2 71840465 [T/C] NM_001130979,NM_001130978,NM_001130980,NM_001130981,NM_003494,NM_001130977,NM_001130976,NM_001130982,NM_001130983,NM_001130984,NM_001130985,NM_001130455,NM_001130986,NM_001130987 DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF EXON Synonymous_D1476D,Synonymous_D1445D,Synonymous_D1462D,Synonymous_D1462D,Synonymous_D1445D,Synonymous_D1431D,Synonymous_D1431D,Synonymous_D1477D,Synonymous_D1446D,Synonymous_D1432D,Synonymous_D1463D,Synonymous_D1446D,Synonymous_D1432D,Synonymous_D1463D exm201474 2 71840506 [A/G] NM_001130979,NM_001130978,NM_001130980,NM_001130981,NM_003494,NM_001130977,NM_001130976,NM_001130982,NM_001130983,NM_001130984,NM_001130985,NM_001130455,NM_001130986,NM_001130987 DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF EXON Missense_D1490G,Missense_D1459G,Missense_D1476G,Missense_D1476G,Missense_D1459G,Missense_D1445G,Missense_D1445G,Missense_D1491G,Missense_D1460G,Missense_D1446G,Missense_D1477G,Missense_D1460G,Missense_D1446G,Missense_D1477G exm2269082 2 71860893 [T/C] NM_001130979,NM_001130978,NM_001130980,NM_001130981,NM_003494,NM_001130977,NM_001130976,NM_001130982,NM_001130983,NM_001130984,NM_001130985,NM_001130455,NM_001130986,NM_001130987 DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm201480 2 71871164 [T/C] NM_001130979,NM_001130978,NM_001130980,NM_001130981,NM_003494,NM_001130977,NM_001130976,NM_001130982,NM_001130983,NM_001130984,NM_001130985,NM_001130455,NM_001130986,NM_001130987 DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF EXON Missense_Y1525H,Missense_Y1515H,Missense_Y1511H,Missense_Y1532H,Missense_Y1494H,Missense_Y1501H,Missense_Y1480H,Missense_Y1526H,Missense_Y1516H,Missense_Y1502H,Missense_Y1512H,Missense_Y1495H,Missense_Y1481H,Missense_Y1533H exm201484 2 71883292 [A/G] NM_001130979,NM_001130978,NM_001130980,NM_001130981,NM_003494,NM_001130977,NM_001130976,NM_001130982,NM_001130983,NM_001130984,NM_001130985,NM_001130455,NM_001130986,NM_001130987 DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF EXON Missense_V1535I,Missense_V1525I,Missense_V1521I,Missense_V1542I,Missense_V1504I,Missense_V1511I,Missense_V1490I,Missense_V1536I,Missense_V1526I,Missense_V1512I,Missense_V1522I,Missense_V1505I,Missense_V1491I,Missense_V1543I exm201488 2 71883359 [A/C] NM_001130979,NM_001130978,NM_001130980,NM_001130981,NM_003494,NM_001130977,NM_001130976,NM_001130982,NM_001130983,NM_001130984,NM_001130985,NM_001130455,NM_001130986,NM_001130987 DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF EXON Missense_K1557T,Missense_K1547T,Missense_K1543T,Missense_K1564T,Missense_K1526T,Missense_K1533T,Missense_K1512T,Missense_K1558T,Missense_K1548T,Missense_K1534T,Missense_K1544T,Missense_K1527T,Missense_K1513T,Missense_K1565T exm201489 2 71883377 [T/C] NM_001130979,NM_001130978,NM_001130980,NM_001130981,NM_003494,NM_001130977,NM_001130976,NM_001130982,NM_001130983,NM_001130984,NM_001130985,NM_001130455,NM_001130986,NM_001130987 DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF EXON Missense_T1563M,Missense_T1553M,Missense_T1549M,Missense_T1570M,Missense_T1532M,Missense_T1539M,Missense_T1518M,Missense_T1564M,Missense_T1554M,Missense_T1540M,Missense_T1550M,Missense_T1533M,Missense_T1519M,Missense_T1571M exm201492 2 71886032 [T/C] NM_001130979,NM_001130978,NM_001130980,NM_001130981,NM_003494,NM_001130977,NM_001130976,NM_001130982,NM_001130983,NM_001130984,NM_001130985,NM_001130455,NM_001130986,NM_001130987 DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF EXON Missense_P1586S,Missense_P1576S,Missense_P1572S,Missense_P1593S,Missense_P1555S,Missense_P1562S,Missense_P1541S,Missense_P1587S,Missense_P1577S,Missense_P1563S,Missense_P1573S,Missense_P1556S,Missense_P1542S,Missense_P1594S exm201493 2 71886044 [A/G] NM_001130979,NM_001130978,NM_001130980,NM_001130981,NM_003494,NM_001130977,NM_001130976,NM_001130982,NM_001130983,NM_001130984,NM_001130985,NM_001130455,NM_001130986,NM_001130987 DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF EXON Missense_A1590T,Missense_A1580T,Missense_A1576T,Missense_A1597T,Missense_A1559T,Missense_A1566T,Missense_A1545T,Missense_A1591T,Missense_A1581T,Missense_A1567T,Missense_A1577T,Missense_A1560T,Missense_A1546T,Missense_A1598T exm201496 2 71886111 [A/G] NM_001130979,NM_001130978,NM_001130980,NM_001130981,NM_003494,NM_001130977,NM_001130976,NM_001130982,NM_001130983,NM_001130984,NM_001130985,NM_001130455,NM_001130986,NM_001130987 DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF EXON Missense_R1612H,Missense_R1602H,Missense_R1598H,Missense_R1619H,Missense_R1581H,Missense_R1588H,Missense_R1567H,Missense_R1613H,Missense_R1603H,Missense_R1589H,Missense_R1599H,Missense_R1582H,Missense_R1568H,Missense_R1620H exm201501 2 71887714 [A/G] NM_001130979,NM_001130978,NM_001130980,NM_001130981,NM_003494,NM_001130977,NM_001130976,NM_001130982,NM_001130983,NM_001130984,NM_001130985,NM_001130455,NM_001130986,NM_001130987 DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF EXON Missense_I1638V,Missense_I1628V,Missense_I1624V,Missense_I1645V,Missense_I1607V,Missense_I1614V,Missense_I1593V,Missense_I1639V,Missense_I1629V,Missense_I1615V,Missense_I1625V,Missense_I1608V,Missense_I1594V,Missense_I1646V exm201502 2 71887715 [T/C] NM_001130979,NM_001130978,NM_001130980,NM_001130981,NM_003494,NM_001130977,NM_001130976,NM_001130982,NM_001130983,NM_001130984,NM_001130985,NM_001130455,NM_001130986,NM_001130987 DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF EXON Missense_I1638T,Missense_I1628T,Missense_I1624T,Missense_I1645T,Missense_I1607T,Missense_I1614T,Missense_I1593T,Missense_I1639T,Missense_I1629T,Missense_I1615T,Missense_I1625T,Missense_I1608T,Missense_I1594T,Missense_I1646T exm201505 2 71887771 [A/G] NM_001130979,NM_001130978,NM_001130980,NM_001130981,NM_003494,NM_001130977,NM_001130976,NM_001130982,NM_001130983,NM_001130984,NM_001130985,NM_001130455,NM_001130986,NM_001130987 DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF EXON Missense_V1657I,Missense_V1647I,Missense_V1643I,Missense_V1664I,Missense_V1626I,Missense_V1633I,Missense_V1612I,Missense_V1658I,Missense_V1648I,Missense_V1634I,Missense_V1644I,Missense_V1627I,Missense_V1613I,Missense_V1665I exm201517 2 71891537 [T/G] NM_001130979,NM_001130978,NM_001130980,NM_001130981,NM_003494,NM_001130977,NM_001130976,NM_001130982,NM_001130983,NM_001130984,NM_001130985,NM_001130455,NM_001130986,NM_001130987 DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF EXON Missense_A1707S,Missense_A1697S,Missense_A1693S,Missense_A1714S,Missense_A1676S,Missense_A1683S,Missense_A1662S,Missense_A1708S,Missense_A1698S,Missense_A1684S,Missense_A1694S,Missense_A1677S,Missense_A1663S,Missense_A1715S exm201520 2 71892333 [T/A] NM_001130979,NM_001130978,NM_001130980,NM_001130981,NM_003494,NM_001130977,NM_001130976,NM_001130982,NM_001130983,NM_001130984,NM_001130985,NM_001130455,NM_001130986,NM_001130987 DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF EXON Missense_Q1731L,Missense_Q1721L,Missense_Q1717L,Missense_Q1738L,Missense_Q1700L,Missense_Q1707L,Missense_Q1686L,Missense_Q1732L,Missense_Q1722L,Missense_Q1708L,Missense_Q1718L,Missense_Q1701L,Missense_Q1687L,Missense_Q1739L exm201523 2 71892383 [T/C] NM_001130979,NM_001130978,NM_001130980,NM_001130981,NM_003494,NM_001130977,NM_001130976,NM_001130982,NM_001130983,NM_001130984,NM_001130985,NM_001130455,NM_001130986,NM_001130987 DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF EXON Missense_R1748W,Missense_R1738W,Missense_R1734W,Missense_R1755W,Missense_R1717W,Missense_R1724W,Missense_R1703W,Missense_R1749W,Missense_R1739W,Missense_R1725W,Missense_R1735W,Missense_R1718W,Missense_R1704W,Missense_R1756W exm201525 2 71892393 [A/G] NM_001130979,NM_001130978,NM_001130980,NM_001130981,NM_003494,NM_001130977,NM_001130976,NM_001130982,NM_001130983,NM_001130984,NM_001130985,NM_001130455,NM_001130986,NM_001130987 DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF EXON Missense_R1751H,Missense_R1741H,Missense_R1737H,Missense_R1758H,Missense_R1720H,Missense_R1727H,Missense_R1706H,Missense_R1752H,Missense_R1742H,Missense_R1728H,Missense_R1738H,Missense_R1721H,Missense_R1707H,Missense_R1759H exm201528 2 71894521 [A/C] NM_001130979,NM_001130978,NM_001130980,NM_001130981,NM_003494,NM_001130977,NM_001130976,NM_001130982,NM_001130983,NM_001130984,NM_001130985,NM_001130455,NM_001130986,NM_001130987 DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF EXON Missense_P1770Q,Missense_P1760Q,Missense_P1756Q,Missense_P1777Q,Missense_P1739Q,Missense_P1746Q,Missense_P1725Q,Missense_P1771Q,Missense_P1761Q,Missense_P1747Q,Missense_P1757Q,Missense_P1740Q,Missense_P1726Q,Missense_P1778Q exm201537 2 71895929 [T/C] NM_001130979,NM_001130978,NM_001130980,NM_001130981,NM_003494,NM_001130977,NM_001130976,NM_001130982,NM_001130983,NM_001130984,NM_001130985,NM_001130455,NM_001130986,NM_001130987 DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF EXON Missense_R1827W,Missense_R1817W,Missense_R1813W,Missense_R1834W,Missense_R1796W,Missense_R1803W,Missense_R1782W,Missense_R1828W,Missense_R1818W,Missense_R1804W,Missense_R1814W,Missense_R1797W,Missense_R1783W,Missense_R1835W exm201543 2 71896304 [T/C] NM_001130979,NM_001130978,NM_001130980,NM_001130981,NM_003494,NM_001130977,NM_001130976,NM_001130982,NM_001130983,NM_001130984,NM_001130985,NM_001130455,NM_001130986,NM_001130987 DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF EXON Missense_T1862M,Missense_T1852M,Missense_T1848M,Missense_T1869M,Missense_T1831M,Missense_T1838M,Missense_T1817M,Missense_T1863M,Missense_T1853M,Missense_T1839M,Missense_T1849M,Missense_T1832M,Missense_T1818M,Missense_T1870M exm201547 2 71896835 [A/G] NM_001130979,NM_001130978,NM_001130980,NM_001130981,NM_003494,NM_001130977,NM_001130976,NM_001130982,NM_001130983,NM_001130984,NM_001130985,NM_001130455,NM_001130986,NM_001130987 DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF EXON Missense_D1907N,Missense_D1897N,Missense_D1893N,Missense_D1914N,Missense_D1876N,Missense_D1883N,Missense_D1862N,Missense_D1908N,Missense_D1898N,Missense_D1884N,Missense_D1894N,Missense_D1877N,Missense_D1863N,Missense_D1915N exm201555 2 71906210 [T/C] NM_001130979,NM_001130978,NM_001130980,NM_001130981,NM_003494,NM_001130977,NM_001130976,NM_001130982,NM_001130983,NM_001130984,NM_001130985,NM_001130455,NM_001130986,NM_001130987 DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF EXON Missense_R1962C,Missense_R1952C,Missense_R1948C,Missense_R1969C,Missense_R1931C,Missense_R1938C,Missense_R1917C,Missense_R1963C,Missense_R1953C,Missense_R1939C,Missense_R1949C,Missense_R1932C,Missense_R1918C,Missense_R1970C exm201564 2 71906365 [A/G] NM_001130979,NM_001130978,NM_001130980,NM_001130981,NM_003494,NM_001130977,NM_001130976,NM_001130982,NM_001130983,NM_001130984,NM_001130985,NM_001130455,NM_001130986,NM_001130987 DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF EXON Synonymous_A2013A,Synonymous_A2003A,Synonymous_A1999A,Synonymous_A2020A,Synonymous_A1982A,Synonymous_A1989A,Synonymous_A1968A,Synonymous_A2014A,Synonymous_A2004A,Synonymous_A1990A,Synonymous_A2000A,Synonymous_A1983A,Synonymous_A1969A,Synonymous_A2021A exm201568 2 71908182 [T/C] NM_001130979,NM_001130978,NM_001130980,NM_001130981,NM_003494,NM_001130977,NM_001130976,NM_001130982,NM_001130983,NM_001130984,NM_001130985,NM_001130455,NM_001130986,NM_001130987 DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF EXON Missense_R2031W,Missense_R2021W,Missense_R2017W,Missense_R2038W,Missense_R2000W,Missense_R2007W,Missense_R1986W,Missense_R2032W,Missense_R2022W,Missense_R2008W,Missense_R2018W,Missense_R2001W,Missense_R1987W,Missense_R2039W exm201569 2 71908183 [A/G] NM_001130979,NM_001130978,NM_001130980,NM_001130981,NM_003494,NM_001130977,NM_001130976,NM_001130982,NM_001130983,NM_001130984,NM_001130985,NM_001130455,NM_001130986,NM_001130987 DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF EXON Missense_R2031Q,Missense_R2021Q,Missense_R2017Q,Missense_R2038Q,Missense_R2000Q,Missense_R2007Q,Missense_R1986Q,Missense_R2032Q,Missense_R2022Q,Missense_R2008Q,Missense_R2018Q,Missense_R2001Q,Missense_R1987Q,Missense_R2039Q exm2237970 2 71909724 [T/C] NM_001130979,NM_001130978,NM_001130980,NM_001130981,NM_003494,NM_001130977,NM_001130976,NM_001130982,NM_001130983,NM_001130984,NM_001130985,NM_001130455,NM_001130986,NM_001130987 DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF EXON Missense_R2072W,Missense_R2062W,Missense_R2058W,Missense_R2079W,Missense_R2041W,Missense_R2048W,Missense_R2027W,Missense_R2073W,Missense_R2063W,Missense_R2049W,Missense_R2059W,Missense_R2042W,Missense_R2028W,Missense_R2080W exm201579 2 71909733 [T/C] NM_001130979,NM_001130978,NM_001130980,NM_001130981,NM_003494,NM_001130977,NM_001130976,NM_001130982,NM_001130983,NM_001130984,NM_001130985,NM_001130455,NM_001130986,NM_001130987 DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF EXON Missense_R2075W,Missense_R2065W,Missense_R2061W,Missense_R2082W,Missense_R2044W,Missense_R2051W,Missense_R2030W,Missense_R2076W,Missense_R2066W,Missense_R2052W,Missense_R2062W,Missense_R2045W,Missense_R2031W,Missense_R2083W exm201585 2 71909806 [T/C] NM_001130979,NM_001130978,NM_001130980,NM_001130981,NM_003494,NM_001130977,NM_001130976,NM_001130982,NM_001130983,NM_001130984,NM_001130985,NM_001130455,NM_001130986,NM_001130987 DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF EXON Missense_P2099L,Missense_P2089L,Missense_P2085L,Missense_P2106L,Missense_P2068L,Missense_P2075L,Missense_P2054L,Missense_P2100L,Missense_P2090L,Missense_P2076L,Missense_P2086L,Missense_P2069L,Missense_P2055L,Missense_P2107L exm-rs2900976 2 71958480 [T/C] exm-rs13427905 2 72073715 [T/C] exm2269083 2 72236597 [T/C] exm201591 2 72359386 [A/C] NM_019885 CYP26B1 EXON Missense_E503D exm201593 2 72359400 [T/C] NM_019885 CYP26B1 EXON Missense_E499K exm201597 2 72359448 [T/C] NM_019885 CYP26B1 EXON Missense_V483M exm201600 2 72359478 [A/G] NM_019885 CYP26B1 EXON Missense_R473C exm201601 2 72359481 [A/G] NM_019885 CYP26B1 EXON Missense_P472S exm201616 2 72360160 [T/C] NM_019885 CYP26B1 EXON Missense_E380K exm2027074 2 72360258 [A/G] NM_019885 CYP26B1 EXON Missense_T347M exm201630 2 72360331 [A/G] NM_019885 CYP26B1 EXON Missense_R323W exm201643 2 72361960 [A/G] NM_019885 CYP26B1 EXON Missense_L264S exm201649 2 72362299 [T/C] NM_019885 CYP26B1 EXON Missense_D227N exm201654 2 72362406 [T/C] NM_019885 CYP26B1 EXON Missense_R191H exm201655 2 72362407 [A/G] NM_019885 CYP26B1 EXON Missense_R191C exm201658 2 72362437 [T/C] NM_019885 CYP26B1 EXON Missense_V181M exm201667 2 72362524 [T/C] NM_019885 CYP26B1 EXON Missense_E152K exm201675 2 72374849 [T/C] NM_019885 CYP26B1 EXON Missense_A39T exm201680 2 72406471 [T/C] NM_015189 EXOC6B EXON Missense_H810R exm2265327 2 72533963 [A/G] NM_015189 EXOC6B Silent exm201695 2 72692371 [T/C] NM_015189 EXOC6B EXON Missense_D633G exm201701 2 72707795 [A/G] NM_015189 EXOC6B EXON Missense_L584F exm201704 2 72707872 [T/C] NM_015189 EXOC6B EXON Missense_Q558R exm2255480 2 72707874 [A/G] NM_015189 EXOC6B EXON Synonymous_V557V exm201705 2 72707874 [A/G] NM_015189 EXOC6B EXON Synonymous_V557V exm201710 2 72722565 [T/C] NM_015189 EXOC6B EXON Missense_H516R exm201713 2 72722593 [T/C] NM_015189 EXOC6B EXON Missense_A507T exm2263895 2 72735313 [A/C] NM_015189 EXOC6B Silent exm201729 2 72740272 [A/G] NM_015189 EXOC6B EXON Missense_R386C exm201730 2 72740303 [T/G] NM_015189 EXOC6B EXON Missense_E375D exm201745 2 72802681 [A/C] NM_015189 EXOC6B EXON Missense_S262R exm201752 2 72945368 [T/C] NM_015189 EXOC6B EXON Missense_R178Q exm201758 2 72958317 [T/C] NM_015189 EXOC6B EXON Missense_A129T exm201763 2 72968545 [T/C] NM_015189 EXOC6B EXON Missense_R56H exm201765 2 73052945 [T/C] NM_015189 EXOC6B EXON Missense_C32Y exm201782 2 73115586 [A/G] NM_003124 SPR EXON Missense_R150G exm2237974 2 73118508 [T/C] NM_003124 SPR EXON Missense_R210W exm201794 2 73118509 [A/G] NM_003124 SPR EXON Missense_R210Q exm201796 2 73118534 [A/G] NM_003124 SPR EXON Missense_M218I exm201803 2 73118656 [A/G] NM_003124 SPR EXON Missense_Y259C exm2255481 2 73151461 [T/C] NM_004097 EMX1 EXON Synonymous_L182L exm201839 2 73172180 [A/G] NM_144579 SFXN5 EXON Missense_R332W exm201841 2 73172192 [T/C] NM_144579 SFXN5 EXON Missense_A328T exm2261307 2 73179990 [A/G] NM_144579 SFXN5 Silent exm201853 2 73188370 [A/G] NM_144579 SFXN5 EXON Missense_L279F exm201869 2 73198732 [T/G] NM_144579 SFXN5 EXON Missense_N236K exm201907 2 73298788 [T/G] NM_144579 SFXN5 EXON Missense_A16D exm201917 2 73302656 [C/G] NM_015470 RAB11FIP5 EXON Missense_P652R exm201924 2 73302770 [T/C] NM_015470 RAB11FIP5 EXON Missense_R614Q exm201933 2 73303300 [T/C] NM_015470 RAB11FIP5 EXON Missense_V527M exm201947 2 73315326 [A/G] NM_015470 RAB11FIP5 EXON Missense_R474W exm201948 2 73315364 [A/C] NM_015470 RAB11FIP5 EXON Missense_R461L exm201949 2 73315365 [A/G] NM_015470 RAB11FIP5 EXON Missense_R461W exm201962 2 73315604 [T/C] NM_015470 RAB11FIP5 EXON Missense_R381H exm201971 2 73315670 [A/G] NM_015470 RAB11FIP5 EXON Missense_S359L exm201973 2 73315688 [T/C] NM_015470 RAB11FIP5 EXON Missense_R353Q exm201974 2 73315689 [A/G] NM_015470 RAB11FIP5 EXON Missense_R353W exm201981 2 73315797 [A/G] NM_015470 RAB11FIP5 EXON Missense_P317S exm201982 2 73315824 [T/C] NM_015470 RAB11FIP5 EXON Missense_D308N exm201983 2 73315838 [T/A] NM_015470 RAB11FIP5 EXON Missense_K303M exm201989 2 73316061 [T/C] NM_015470 RAB11FIP5 EXON Missense_A272T exm201990 2 73316069 [C/G] NM_015470 RAB11FIP5 EXON Missense_G269A exm2255483 2 73378241 [A/G] exm202046 2 73429808 [C/G] NM_001134462 NOTO EXON Missense_R5T exm202048 2 73430084 [T/C] NM_001134462 NOTO EXON Missense_S97L exm202053 2 73435637 [C/G] NM_001134462 NOTO EXON Missense_N164K exm202087 2 73448969 [T/C] NM_006062 SMYD5 EXON Missense_R185C exm202090 2 73449005 [A/C] NM_006062 SMYD5 EXON Missense_T197P exm202092 2 73449012 [A/G] NM_006062 SMYD5 EXON Missense_N199S exm202101 2 73449902 [A/G] NM_006062 SMYD5 EXON Missense_R221Q exm202112 2 73450610 [A/G] NM_006062 SMYD5 EXON Missense_R278H exm202120 2 73452805 [A/G] NM_006062 SMYD5 EXON Missense_R361H exm2273356 2 73455564 [A/G] NM_032319 PRADC1 EXON Silent exm202142 2 73456065 [A/G] NM_032319 PRADC1 EXON Missense_R102W exm202144 2 73456629 [T/C] NM_032319 PRADC1 EXON Missense_G80S exm2027226 2 73457240 [T/C] NM_032319 PRADC1 Silent exm202151 2 73457287 [T/C] NM_032319 PRADC1 EXON Missense_R41Q exm2255484 2 73466812 [G/C] NM_001166284,NM_006429,NR_029402,NR_029403,NM_001166285,NM_001009570 CCT7,CCT7,CCT7,CCT7,CCT7,CCT7 EXON Silent,Synonymous_S16S,Silent,Silent,Silent,Silent exm202205 2 73476302 [A/G] NM_001166284,NM_006429,NR_029402,NR_029403,NM_001166285,NM_001009570 CCT7,CCT7,CCT7,CCT7,CCT7,CCT7 EXON Missense_M236V,Missense_M323V,Silent,Silent,Missense_M279V,Missense_M119V exm202211 2 73477492 [A/G] NM_001166284,NM_006429,NR_029402,NR_029403,NM_001166285,NM_001009570 CCT7,CCT7,CCT7,CCT7,CCT7,CCT7 EXON Missense_G290S,Missense_G377S,Silent,Silent,Missense_G333S,Missense_G173S exm202216 2 73478414 [A/G] NM_001166284,NM_006429,NR_029402,NR_029403,NM_001166285,NM_001009570 CCT7,CCT7,CCT7,CCT7,CCT7,CCT7 EXON Missense_D335N,Missense_D422N,Silent,Silent,Missense_D378N,Missense_D218N exm202238 2 73486118 [T/C] NM_001080410 FBXO41 EXON Missense_G874S exm202248 2 73487547 [T/C] NM_001080410 FBXO41 EXON Missense_V807I exm202278 2 73491614 [T/C] NM_001080410 FBXO41 EXON Missense_R533Q exm202282 2 73491623 [T/C] NM_001080410 FBXO41 EXON Missense_R530Q exm202286 2 73491644 [T/C] NM_001080410 FBXO41 EXON Missense_R523H exm202288 2 73492418 [T/C] NM_001080410 FBXO41 EXON Missense_R519Q exm202292 2 73492458 [A/G] NM_001080410 FBXO41 EXON Missense_R506C exm202294 2 73492463 [A/G] NM_001080410 FBXO41 EXON Missense_A504V exm202299 2 73492551 [A/G] NM_001080410 FBXO41 EXON Missense_R475C exm202316 2 73493602 [A/G] NM_001080410 FBXO41 EXON Missense_R372W exm-IND2-73351464 2 73497957 [D/I] exm202352 2 73518628 [G/C] NM_001965 EGR4 EXON Missense_G576A exm202392 2 73519366 [A/G] NM_001965 EGR4 EXON Missense_A330V exm2237980 2 73519651 [A/G] NM_001965 EGR4 EXON Missense_A235V exm202401 2 73519676 [T/A] NM_001965 EGR4 EXON Missense_S227T exm202405 2 73519762 [A/G] NM_001965 EGR4 EXON Missense_P198L exm202420 2 73613030 [G/C] NM_015120 ALMS1 EXON Missense_L12V exm202421 2 73613031 [T/A] NM_015120 ALMS1 EXON Missense_L12Q exm202455 2 73646411 [A/C] NM_015120 ALMS1 EXON Missense_E204A exm202456 2 73649987 [A/G] NM_015120 ALMS1 EXON Missense_I217V exm202458 2 73650009 [A/C] NM_015120 ALMS1 EXON Missense_P224H exm202466 2 73651689 [T/C] NM_015120 ALMS1 EXON Missense_P299L exm202472 2 73651937 [A/G] NM_015120 ALMS1 EXON Missense_T382A exm202475 2 73651967 [T/C] NM_015120 ALMS1 EXON Missense_R392C exm202481 2 73653610 [A/G] NM_015120 ALMS1 EXON Missense_V423I exm202491 2 73675110 [A/G] NM_015120 ALMS1 EXON Missense_I485V exm202497 2 73675263 [C/G] NM_015120 ALMS1 EXON Missense_L536V exm202505 2 73675492 [A/G] NM_015120 ALMS1 EXON Missense_G612D exm202507 2 73675525 [A/G] NM_015120 ALMS1 EXON Missense_H623R exm202509 2 73675630 [T/C] NM_015120 ALMS1 EXON Missense_T658M exm202511 2 73675662 [T/A] NM_015120 ALMS1 EXON Missense_S669T exm202512 2 73675669 [T/G] NM_015120 ALMS1 EXON Missense_V671G exm202514 2 73675690 [A/G] NM_015120 ALMS1 EXON Missense_Y678C exm202515 2 73675692 [C/G] NM_015120 ALMS1 EXON Missense_R679G exm202517 2 73675719 [A/G] NM_015120 ALMS1 EXON Missense_T688A exm202521 2 73675806 [T/C] NM_015120 ALMS1 EXON Missense_H717Y exm202523 2 73675923 [T/C] NM_015120 ALMS1 EXON Missense_P756S exm202526 2 73675963 [T/C] NM_015120 ALMS1 EXON Missense_P769L exm2027315 2 73676008 [A/G] NM_015120 ALMS1 EXON Missense_E784G exm2027317 2 73676070 [G/C] NM_015120 ALMS1 EXON Missense_V805L exm202532 2 73676121 [T/C] NM_015120 ALMS1 EXON Nonsense_Q822X exm202556 2 73676547 [T/C] NM_015120 ALMS1 EXON Missense_Y964H exm202561 2 73676745 [A/G] NM_015120 ALMS1 EXON Missense_T1030A exm202562 2 73676746 [C/G] NM_015120 ALMS1 EXON Missense_T1030S exm202565 2 73676847 [T/C] NM_015120 ALMS1 EXON Missense_S1064P exm202568 2 73676944 [A/G] NM_015120 ALMS1 EXON Missense_Y1096C exm202569 2 73676961 [C/G] NM_015120 ALMS1 EXON Missense_P1102A exm202570 2 73676965 [A/G] NM_015120 ALMS1 EXON Missense_G1103D exm202573 2 73677049 [A/G] NM_015120 ALMS1 EXON Missense_Q1131R exm2237982 2 73677147 [T/C] NM_015120 ALMS1 EXON Missense_P1164S exm202579 2 73677232 [T/C] NM_015120 ALMS1 EXON Missense_S1192L exm202604 2 73677858 [A/G] NM_015120 ALMS1 EXON Missense_T1401A exm202605 2 73677876 [A/G] NM_015120 ALMS1 EXON Missense_V1407I exm202608 2 73677898 [G/C] NM_015120 ALMS1 EXON Missense_G1414A exm202609 2 73677903 [T/C] NM_015120 ALMS1 EXON Missense_R1416W exm202611 2 73677970 [A/C] NM_015120 ALMS1 EXON Missense_Y1438S exm2027330 2 73677983 [T/G] NM_015120 ALMS1 EXON Missense_L1442F exm202613 2 73678048 [T/C] NM_015120 ALMS1 EXON Missense_T1464M exm202615 2 73678054 [T/G] NM_015120 ALMS1 EXON Missense_G1466V exm202620 2 73678197 [A/G] NM_015120 ALMS1 EXON Missense_A1514T exm2255485 2 73678259 [A/G] NM_015120 ALMS1 EXON Synonymous_Q1534Q exm202632 2 73678539 [T/C] NM_015120 ALMS1 EXON Missense_R1628W exm202635 2 73678616 [T/G] NM_015120 ALMS1 EXON Missense_K1653N exm202636 2 73678642 [T/C] NM_015120 ALMS1 EXON Missense_T1662I exm202642 2 73678843 [A/G] NM_015120 ALMS1 EXON Missense_E1729G exm202647 2 73678930 [A/G] NM_015120 ALMS1 EXON Missense_Y1758C exm202651 2 73679013 [A/G] NM_015120 ALMS1 EXON Missense_N1786D exm202653 2 73679087 [C/G] NM_015120 ALMS1 EXON Missense_K1810N exm202655 2 73679116 [T/C] NM_015120 ALMS1 EXON Missense_P1820L exm202657 2 73679120 [T/A] NM_015120 ALMS1 EXON Missense_H1821Q exm202663 2 73679280 [A/G] NM_015120 ALMS1 EXON Missense_I1875V exm202665 2 73679440 [A/G] NM_015120 ALMS1 EXON Missense_R1928Q exm202669 2 73679572 [A/C] NM_015120 ALMS1 EXON Missense_P1972Q exm202670 2 73679661 [A/G] NM_015120 ALMS1 EXON Missense_I2002V exm202673 2 73679736 [T/C] NM_015120 ALMS1 EXON Missense_S2027P exm202680 2 73679837 [G/C] NM_015120 ALMS1 EXON Missense_Q2060H exm202682 2 73679866 [T/C] NM_015120 ALMS1 EXON Missense_I2070T exm202683 2 73679956 [T/C] NM_015120 ALMS1 EXON Missense_S2100L exm202686 2 73679998 [T/C] NM_015120 ALMS1 EXON Missense_T2114I exm202691 2 73680118 [A/G] NM_015120 ALMS1 EXON Missense_D2154G exm202694 2 73680207 [T/C] NM_015120 ALMS1 EXON Missense_P2184S exm202703 2 73680406 [A/G] NM_015120 ALMS1 EXON Missense_D2250G exm202708 2 73680508 [G/C] NM_015120 ALMS1 EXON Missense_R2284P exm202728 2 73680922 [A/G] NM_015120 ALMS1 EXON Missense_N2422S exm202734 2 73681161 [A/G] NM_015120 ALMS1 EXON Missense_A2502T exm202744 2 73716810 [A/G] NM_015120 ALMS1 EXON Missense_S2574N exm202749 2 73716898 [C/G] NM_015120 ALMS1 EXON Missense_F2603L exm202750 2 73716906 [G/C] NM_015120 ALMS1 EXON Missense_A2606G exm202757 2 73717160 [A/G] NM_015120 ALMS1 EXON Missense_K2691E exm202758 2 73717194 [T/C] NM_015120 ALMS1 EXON Missense_P2702L exm2237986 2 73717326 [T/G] NM_015120 ALMS1 EXON Missense_V2746G exm202761 2 73717343 [A/C] NM_015120 ALMS1 EXON Missense_H2752N exm202765 2 73717445 [A/G] NM_015120 ALMS1 EXON Missense_I2786V exm202767 2 73717497 [A/G] NM_015120 ALMS1 EXON Missense_R2803H exm202770 2 73717567 [T/G] NM_015120 ALMS1 EXON Missense_R2826S exm202771 2 73717582 [T/A] NM_015120 ALMS1 EXON Missense_N2831K exm202773 2 73717632 [A/G] NM_015120 ALMS1 EXON Missense_R2848K exm202774 2 73717656 [A/G] NM_015120 ALMS1 EXON Missense_N2856S exm202783 2 73717851 [T/C] NM_015120 ALMS1 EXON Missense_I2921T exm202784 2 73717857 [T/C] NM_015120 ALMS1 EXON Missense_L2923P exm202786 2 73717921 [C/G] NM_015120 ALMS1 EXON Missense_N2944K exm2027375 2 73718004 [T/C] NM_015120 ALMS1 EXON Missense_A2972V exm202791 2 73718028 [A/G] NM_015120 ALMS1 EXON Missense_N2980S exm202795 2 73718084 [T/C] NM_015120 ALMS1 EXON Nonsense_Q2999X exm202803 2 73718231 [A/G] NM_015120 ALMS1 EXON Missense_I3048V exm202813 2 73718582 [A/G] NM_015120 ALMS1 EXON Missense_E3165K exm202820 2 73746979 [T/C] NM_015120 ALMS1 EXON Missense_T3205I exm202824 2 73747035 [T/C] NM_015120 ALMS1 EXON Missense_R3224C exm202825 2 73747074 [T/C] NM_015120 ALMS1 EXON Missense_R3237C exm202849 2 73762055 [A/G] NM_015120 ALMS1 EXON Missense_T3295A exm202851 2 73777400 [A/G] NM_015120 ALMS1 EXON Missense_N3304S exm2265329 2 73785358 [A/G] NM_015120 ALMS1 Silent exm202863 2 73786157 [C/G] NM_015120 ALMS1 EXON Missense_K3423N exm202866 2 73786188 [A/G] NM_015120 ALMS1 EXON Missense_K3434E exm202876 2 73799632 [C/G] NM_015120 ALMS1 EXON Missense_T3542S exm202879 2 73799755 [T/A] NM_015120 ALMS1 EXON Missense_Q3583L exm202880 2 73799778 [A/G] NM_015120 ALMS1 EXON Missense_T3591A exm202883 2 73799821 [A/G] NM_015120 ALMS1 EXON Missense_R3605Q exm202887 2 73799896 [A/G] NM_015120 ALMS1 EXON Missense_R3630H exm202893 2 73800058 [A/G] NM_015120 ALMS1 EXON Missense_S3684N exm202897 2 73800217 [A/G] NM_015120 ALMS1 EXON Missense_R3737Q exm202899 2 73800259 [A/G] NM_015120 ALMS1 EXON Missense_N3751S exm202901 2 73800270 [A/G] NM_015120 ALMS1 EXON Missense_G3755S exm202908 2 73800411 [T/C] NM_015120 ALMS1 EXON Missense_P3802S exm202909 2 73800415 [G/C] NM_015120 ALMS1 EXON Missense_R3803T exm202925 2 73827844 [A/G] NM_015120 ALMS1 EXON Missense_R3902Q exm202929 2 73827901 [A/G] NM_015120 ALMS1 EXON Missense_N3921S exm2237991 2 73828342 [T/G] NM_015120 ALMS1 EXON Missense_V3964L exm202937 2 73828388 [T/C] NM_015120 ALMS1 EXON Missense_T3979I exm202941 2 73828443 [C/G] NM_015120 ALMS1 EXON Missense_R3997S exm202942 2 73828453 [T/C] NM_015120 ALMS1 EXON Missense_R4001W exm202944 2 73828493 [A/G] NM_015120 ALMS1 EXON Missense_G4014D exm202945 2 73828523 [A/G] NM_015120 ALMS1 EXON Missense_G4024D exm202947 2 73828538 [A/G] NM_015120 ALMS1 EXON Missense_R4029K exm202966 2 73830419 [A/G] NM_015120 ALMS1 EXON Missense_Q4116R exm202982 2 73868134 [G/C] NM_003960 NAT8 EXON Missense_V208L exm2027429 2 73868379 [A/G] NM_003960 NAT8 EXON Missense_P126L exm203005 2 73868394 [A/G] NM_003960 NAT8 EXON Missense_M121T exm203009 2 73868421 [T/G] NM_003960 NAT8 EXON Missense_A112D exm203010 2 73868446 [T/C] NM_003960 NAT8 EXON Missense_E104K exm203022 2 73868514 [A/G] NM_003960 NAT8 EXON Missense_P81L exm203026 2 73868538 [A/G] NM_003960 NAT8 EXON Missense_A73V exm203028 2 73868577 [G/C] NM_003960 NAT8 EXON Missense_W60S exm203032 2 73868656 [A/G] NM_003960 NAT8 EXON Missense_R34W exm203035 2 73868736 [T/C] NM_003960 NAT8 EXON Missense_R7H exm-rs10206899 2 73900900 [T/C] NR_003683 ALMS1P Silent exm203069 2 73927766 [G/C] NM_016347 NAT8B EXON Missense_Q223E exm203072 2 73927826 [T/C] NM_016347 NAT8B EXON Missense_V203M exm203081 2 73927931 [A/G] NM_016347 NAT8B EXON Missense_X168Q exm203085 2 73927942 [A/G] NM_016347 NAT8B EXON Missense_F164S exm203092 2 73928048 [T/C] NM_016347 NAT8B EXON Missense_D129N exm203097 2 73928098 [C/G] NM_016347 NAT8B EXON Missense_G112A exm203111 2 73928333 [A/G] NM_016347 NAT8B EXON Missense_R34W exm203113 2 73928366 [G/C] NM_016347 NAT8B EXON Missense_R23G exm203119 2 73928414 [A/G] NM_016347 NAT8B EXON Missense_R7C exm203120 2 73928422 [T/A] NM_016347 NAT8B EXON Missense_Y4F exm203128 2 73957715 [T/C] NM_016058 TPRKB EXON Missense_E138G exm203132 2 73957799 [A/G] NM_016058 TPRKB EXON Missense_I110T exm203142 2 73959409 [T/C] NM_016058 TPRKB EXON Missense_V49I exm203145 2 73961597 [T/G] NM_016058 TPRKB EXON Missense_M34L exm203154 2 73989915 [T/C] NM_003584 DUSP11 EXON Missense_Y336C exm203160 2 73993593 [A/G] NM_003584 DUSP11 EXON Missense_A296V exm203171 2 73994312 [T/C] NM_003584 DUSP11 EXON Missense_V220M exm203185 2 74007136 [T/C] NM_003584 DUSP11 EXON Missense_D36G exm203196 2 74040702 [A/C] NM_001080474 C2orf78 EXON Missense_N66H exm203201 2 74040841 [A/G] NM_001080474 C2orf78 EXON Missense_G112D exm203207 2 74040982 [T/C] NM_001080474 C2orf78 EXON Missense_M159T exm203220 2 74041314 [T/G] NM_001080474 C2orf78 EXON Missense_S270A exm203231 2 74042489 [T/C] NM_001080474 C2orf78 EXON Missense_I380T exm203234 2 74042581 [T/C] NM_001080474 C2orf78 EXON Missense_P411S exm2237998 2 74042714 [T/C] NM_001080474 C2orf78 EXON Missense_P455L exm203244 2 74042953 [A/G] NM_001080474 C2orf78 EXON Missense_S535G exm203246 2 74042974 [A/G] NM_001080474 C2orf78 EXON Missense_A542T exm203251 2 74043074 [T/G] NM_001080474 C2orf78 EXON Missense_G575V exm203253 2 74043126 [A/C] NM_001080474 C2orf78 EXON Missense_K592N exm203254 2 74043164 [T/C] NM_001080474 C2orf78 EXON Missense_M605T exm2027498 2 74043344 [A/G] NM_001080474 C2orf78 EXON Missense_R665H exm203276 2 74043532 [A/C] NM_001080474 C2orf78 EXON Missense_Q728K exm203279 2 74043548 [A/G] NM_001080474 C2orf78 EXON Missense_H733R exm203289 2 74043914 [A/G] NM_001080474 C2orf78 EXON Missense_R855H exm203290 2 74043956 [T/C] NM_001080474 C2orf78 EXON Missense_T869M exm203297 2 74058016 [T/C] NM_201647,NM_006463,NM_213622 STAMBP,STAMBP,STAMBP EXON Synonymous_P11P,Synonymous_P11P,Synonymous_P11P exm203300 2 74058095 [T/C] NM_201647,NM_006463,NM_213622 STAMBP,STAMBP,STAMBP EXON Missense_R38C,Missense_R38C,Missense_R38C exm203301 2 74058166 [T/C] NM_201647,NM_006463,NM_213622 STAMBP,STAMBP,STAMBP EXON Synonymous_I61I,Synonymous_I61I,Synonymous_I61I exm203319 2 74074538 [T/C] NM_201647,NM_006463,NM_213622 STAMBP,STAMBP,STAMBP EXON Missense_R134W,Missense_R134W,Missense_R134W exm2027510 2 74074562 [G/C] NM_201647,NM_006463,NM_213622 STAMBP,STAMBP,STAMBP EXON Missense_L142V,Missense_L142V,Missense_L142V exm203322 2 74074603 [T/G] NM_201647,NM_006463,NM_213622 STAMBP,STAMBP,STAMBP EXON Missense_Q155H,Missense_Q155H,Missense_Q155H exm203324 2 74074637 [A/G] NM_201647,NM_006463,NM_213622 STAMBP,STAMBP,STAMBP EXON Missense_E167K,Missense_E167K,Missense_E167K exm203326 2 74076511 [A/G] NM_201647,NM_006463,NM_213622 STAMBP,STAMBP,STAMBP EXON Missense_R255H,Missense_R255H,Missense_R255H exm203327 2 74076515 [T/C] NM_201647,NM_006463,NM_213622 STAMBP,STAMBP,STAMBP EXON Synonymous_H256H,Synonymous_H256H,Synonymous_H256H exm203328 2 74076532 [A/G] NM_201647,NM_006463,NM_213622 STAMBP,STAMBP,STAMBP EXON Missense_R262Q,Missense_R262Q,Missense_R262Q exm203333 2 74077526 [T/C] NM_201647,NM_006463,NM_213622 STAMBP,STAMBP,STAMBP EXON Synonymous_T297T,Synonymous_T297T,Synonymous_T297T exm203335 2 74077556 [T/G] NM_201647,NM_006463,NM_213622 STAMBP,STAMBP,STAMBP EXON Synonymous_G307G,Synonymous_G307G,Synonymous_G307G exm203339 2 74077640 [T/C] NM_201647,NM_006463,NM_213622 STAMBP,STAMBP,STAMBP EXON Synonymous_H335H,Synonymous_H335H,Synonymous_H335H exm2269084 2 74127289 [T/C] NM_001615,NM_001199893 ACTG2,ACTG2 Silent,Silent exm203399 2 74143722 [A/G] NM_001615,NM_001199893 ACTG2,ACTG2 EXON Missense_A273T,Missense_A230T exm203410 2 74154041 [T/G] NM_080918,NM_080916 DGUOK,DGUOK EXON Missense_A2S,Missense_A2S exm2275592 2 74166070 [C/G] NM_080918,NM_080916 DGUOK,DGUOK EXON Missense_T59R,Missense_T59R exm203424 2 74166089 [A/G] NM_080918,NM_080916 DGUOK,DGUOK EXON Nonsense_W65X,Nonsense_W65X exm203426 2 74166093 [A/G] NM_080918,NM_080916 DGUOK,DGUOK EXON Missense_V67I,Missense_V67I exm203427 2 74166105 [C/G] NM_080918,NM_080916 DGUOK,DGUOK EXON Missense_P71A,Missense_P71A exm2238003 2 74173927 [T/C] NM_080918,NM_080916 DGUOK,DGUOK EXON Missense_F113L,Missense_F113L exm203446 2 74177777 [A/G] NM_080918,NM_080916 DGUOK,DGUOK EXON Silent,Missense_Q170R exm203456 2 74184313 [A/G] NM_080918,NM_080916 DGUOK,DGUOK EXON Silent,Missense_Y218C exm-rs6546886 2 74245777 [T/C] exm203468 2 74273472 [A/G] NM_144993 TET3 EXON Missense_H8R exm2027556 2 74273531 [T/G] NM_144993 TET3 EXON Missense_A28S exm203469 2 74273534 [C/G] NM_144993 TET3 EXON Missense_G29R exm203488 2 74274174 [T/C] NM_144993 TET3 EXON Missense_T242I exm203491 2 74274249 [A/G] NM_144993 TET3 EXON Missense_R267Q exm203493 2 74274321 [T/C] NM_144993 TET3 EXON Missense_P291L exm203494 2 74274329 [T/C] NM_144993 TET3 EXON Missense_P294S exm203495 2 74274336 [C/G] NM_144993 TET3 EXON Missense_T296S exm203496 2 74274351 [T/C] NM_144993 TET3 EXON Missense_A301V exm2273799 2 74274540 [C/G] NM_144993 TET3 EXON Missense_P364R exm203507 2 74274681 [T/C] NM_144993 TET3 EXON Missense_T411I exm203508 2 74274744 [T/C] NM_144993 TET3 EXON Missense_V432A exm2275593 2 74274768 [A/C] NM_144993 TET3 EXON Missense_P440H exm203509 2 74274812 [A/G] NM_144993 TET3 EXON Missense_V455M exm2027566 2 74274969 [G/C] NM_144993 TET3 EXON Missense_A507G exm203515 2 74274978 [T/C] NM_144993 TET3 EXON Missense_P510L exm203525 2 74275226 [G/C] NM_144993 TET3 EXON Missense_P593A exm203593 2 74327553 [A/G] NM_144993 TET3 EXON Missense_G1078D exm203602 2 74327675 [A/G] NM_144993 TET3 EXON Missense_M1119V exm2027588 2 74327784 [T/C] NM_144993 TET3 EXON Missense_P1155L exm203607 2 74327798 [A/G] NM_144993 TET3 EXON Missense_V1160I exm203627 2 74328269 [C/G] NM_144993 TET3 EXON Missense_V1317L exm203628 2 74328317 [A/G] NM_144993 TET3 EXON Missense_V1333I exm203636 2 74328425 [T/C] NM_144993 TET3 EXON Missense_S1369P exm2027596 2 74328441 [A/G] NM_144993 TET3 EXON Missense_R1374Q exm203640 2 74328483 [T/C] NM_144993 TET3 EXON Missense_S1388L exm203653 2 74328705 [A/C] NM_144993 TET3 EXON Missense_K1462T exm2273357 2 74331092 [T/C] NM_144993 TET3 EXON Silent exm203706 2 74362748 [T/C] NM_001035505,NM_212552 BOLA3,BOLA3 EXON Synonymous_A69A,Missense_R99Q exm203713 2 74369401 [G/C] NM_001035505,NM_212552 BOLA3,BOLA3 EXON Silent,Missense_Q86E exm203718 2 74372348 [T/C] NM_001035505,NM_212552 BOLA3,BOLA3 EXON Missense_R46Q,Missense_R46Q exm203762 2 74438406 [A/G] NM_006636,NR_027405 MTHFD2,MTHFD2 EXON Missense_I251V,Silent exm203763 2 74438892 [A/G] NM_006636,NR_027405 MTHFD2,MTHFD2 EXON Missense_D263G,Silent exm203779 2 74450058 [T/C] NM_133478,NM_021196 SLC4A5,SLC4A5 EXON Missense_V1090I,Missense_V1106I exm2027646 2 74451973 [A/G] NM_133478,NM_021196 SLC4A5,SLC4A5 EXON Synonymous_D1080D,Synonymous_D1096D exm203783 2 74451984 [T/C] NM_133478,NM_021196 SLC4A5,SLC4A5 EXON Missense_E1077K,Missense_E1093K exm203786 2 74452104 [T/C] NM_133478,NM_021196 SLC4A5,SLC4A5 EXON Missense_V1037I,Missense_V1053I exm203790 2 74454158 [C/G] NM_133478,NM_021196 SLC4A5,SLC4A5 EXON Missense_L1006V,Missense_L1022V exm203800 2 74454673 [T/C] NM_133478,NM_021196 SLC4A5,SLC4A5 EXON Silent,Missense_E979K exm2263896 2 74457718 [A/C] NM_133478,NM_021196 SLC4A5,SLC4A5 Silent,Silent exm203807 2 74459669 [T/C] NM_133478,NM_021196 SLC4A5,SLC4A5 EXON Missense_A901T,Missense_A901T exm203810 2 74459732 [C/G] NM_133478,NM_021196 SLC4A5,SLC4A5 EXON Missense_L880V,Missense_L880V exm203818 2 74462286 [T/C] NM_133478,NM_021196 SLC4A5,SLC4A5 EXON Missense_G792E,Missense_G792E exm2027673 2 74466475 [T/C] NM_133478,NM_021196 SLC4A5,SLC4A5 EXON Missense_Y769C,Missense_Y769C exm2255489 2 74466594 [A/G] NM_133478,NM_021196 SLC4A5,SLC4A5 EXON Synonymous_G729G,Synonymous_G729G exm203858 2 74477637 [T/C] NM_133478,NM_021196 SLC4A5,SLC4A5 EXON Missense_G496S,Missense_G496S exm203868 2 74479379 [T/C] NM_133478,NM_021196 SLC4A5,SLC4A5 EXON Missense_G469R,Missense_G469R exm2238010 2 74479457 [T/C] NM_133478,NM_021196 SLC4A5,SLC4A5 EXON Missense_G443S,Missense_G443S exm203877 2 74480174 [T/C] NM_133478,NM_021196 SLC4A5,SLC4A5 EXON Missense_V399I,Missense_V399I exm203897 2 74489269 [T/C] NM_133478,NM_021196 SLC4A5,SLC4A5 EXON Missense_R269H,Missense_R269H exm203901 2 74489318 [A/G] NM_133478,NM_021196 SLC4A5,SLC4A5 EXON Missense_H253Y,Missense_H253Y exm203902 2 74489323 [T/C] NM_133478,NM_021196 SLC4A5,SLC4A5 EXON Missense_S251N,Missense_S251N exm203904 2 74489354 [T/C] NM_133478,NM_021196 SLC4A5,SLC4A5 EXON Missense_S241G,Missense_S241G exm203935 2 74531730 [T/C] NM_133478,NM_021196 SLC4A5,SLC4A5 EXON Missense_G53S,Missense_G53S exm203949 2 74588717 [A/G] NM_004082,NM_001190836,NM_001135041,NM_023019,NM_001190837,NR_033935,NM_001135040 DCTN1,DCTN1,DCTN1,DCTN1,DCTN1,DCTN1,DCTN1 EXON Missense_T1249I,Missense_T1207I,Missense_T1110I,Missense_T1115I,Missense_T1242I,Silent,Missense_T1224I exm203951 2 74589235 [C/G] NM_004082,NM_001190836,NM_001135041,NM_023019,NM_001190837,NR_033935,NM_001135040 DCTN1,DCTN1,DCTN1,DCTN1,DCTN1,DCTN1,DCTN1 EXON Missense_P1215A,Missense_P1173A,Missense_P1076A,Missense_P1081A,Missense_P1208A,Silent,Missense_P1190A exm203983 2 74592252 [T/C] NM_004082,NM_001190836,NM_001135041,NM_023019,NM_001190837,NR_033935,NM_001135040 DCTN1,DCTN1,DCTN1,DCTN1,DCTN1,DCTN1,DCTN1 EXON Missense_R1049Q,Missense_R1012Q,Missense_R915Q,Missense_R915Q,Missense_R1042Q,Silent,Missense_R1029Q exm203986 2 74592271 [A/G] NM_004082,NM_001190836,NM_001135041,NM_023019,NM_001190837,NR_033935,NM_001135040 DCTN1,DCTN1,DCTN1,DCTN1,DCTN1,DCTN1,DCTN1 EXON Missense_R1043C,Missense_R1006C,Missense_R909C,Missense_R909C,Missense_R1036C,Silent,Missense_R1023C exm203989 2 74592681 [T/C] NM_004082,NM_001190836,NM_001135041,NM_023019,NM_001190837,NR_033935,NM_001135040 DCTN1,DCTN1,DCTN1,DCTN1,DCTN1,DCTN1,DCTN1 EXON Missense_R997Q,Missense_R960Q,Missense_R863Q,Missense_R863Q,Missense_R990Q,Silent,Missense_R977Q exm203995 2 74593101 [G/C] NM_004082,NM_001190836,NM_001135041,NM_023019,NM_001190837,NR_033935,NM_001135040 DCTN1,DCTN1,DCTN1,DCTN1,DCTN1,DCTN1,DCTN1 EXON Missense_I935M,Missense_I898M,Missense_I801M,Missense_I801M,Missense_I928M,Silent,Missense_I915M exm2027750 2 74593591 [T/C] NM_004082,NM_001190836,NM_001135041,NM_023019,NM_001190837,NR_033935,NM_001135040 DCTN1,DCTN1,DCTN1,DCTN1,DCTN1,DCTN1,DCTN1 EXON Missense_E875K,Missense_E838K,Missense_E741K,Missense_E741K,Missense_E868K,Silent,Missense_E855K exm204005 2 74593944 [C/G] NM_004082,NM_001190836,NM_001135041,NM_023019,NM_001190837,NR_033935,NM_001135040 DCTN1,DCTN1,DCTN1,DCTN1,DCTN1,DCTN1,DCTN1 EXON Missense_P811R,Missense_P774R,Missense_P677R,Missense_P677R,Missense_P804R,Silent,Missense_P791R exm204010 2 74594023 [A/G] NM_004082,NM_001190836,NM_001135041,NM_023019,NM_001190837,NR_033935,NM_001135040 DCTN1,DCTN1,DCTN1,DCTN1,DCTN1,DCTN1,DCTN1 EXON Missense_R785W,Missense_R748W,Missense_R651W,Missense_R651W,Missense_R778W,Silent,Missense_R765W exm204013 2 74594230 [A/G] NM_004082,NM_001190836,NM_001135041,NM_023019,NM_001190837,NR_033935,NM_001135040 DCTN1,DCTN1,DCTN1,DCTN1,DCTN1,DCTN1,DCTN1 EXON Missense_T753M,Missense_T716M,Missense_T619M,Missense_T619M,Missense_T746M,Silent,Missense_T733M exm2027758 2 74594519 [T/C] NM_004082,NM_001190836,NM_001135041,NM_023019,NM_001190837,NR_033935,NM_001135040 DCTN1,DCTN1,DCTN1,DCTN1,DCTN1,DCTN1,DCTN1 EXON Missense_Q738R,Missense_Q701R,Missense_Q604R,Missense_Q604R,Missense_Q731R,Silent,Missense_Q718R exm204026 2 74595116 [A/G] NM_004082,NM_001190836,NM_001135041,NM_023019,NM_001190837,NR_033935,NM_001135040 DCTN1,DCTN1,DCTN1,DCTN1,DCTN1,DCTN1,DCTN1 EXON Missense_T666M,Missense_T629M,Missense_T532M,Missense_T532M,Missense_T659M,Silent,Missense_T646M exm204028 2 74595177 [A/C] NM_004082,NM_001190836,NM_001135041,NM_023019,NM_001190837,NR_033935,NM_001135040 DCTN1,DCTN1,DCTN1,DCTN1,DCTN1,DCTN1,DCTN1 EXON Missense_A646S,Missense_A609S,Missense_A512S,Missense_A512S,Missense_A639S,Silent,Missense_A626S exm204053 2 74596527 [T/C] NM_004082,NM_001190836,NM_001135041,NM_023019,NM_001190837,NR_033935,NM_001135040 DCTN1,DCTN1,DCTN1,DCTN1,DCTN1,DCTN1,DCTN1 EXON Missense_R495Q,Missense_R458Q,Missense_R361Q,Missense_R361Q,Missense_R488Q,Silent,Missense_R475Q exm204071 2 74597374 [T/C] NM_004082,NM_001190836,NM_001135041,NM_023019,NM_001190837,NR_033935,NM_001135040 DCTN1,DCTN1,DCTN1,DCTN1,DCTN1,DCTN1,DCTN1 EXON Missense_R409Q,Missense_R372Q,Missense_R275Q,Missense_R275Q,Missense_R402Q,Silent,Missense_R389Q exm204072 2 74597375 [A/G] NM_004082,NM_001190836,NM_001135041,NM_023019,NM_001190837,NR_033935,NM_001135040 DCTN1,DCTN1,DCTN1,DCTN1,DCTN1,DCTN1,DCTN1 EXON Missense_R409W,Missense_R372W,Missense_R275W,Missense_R275W,Missense_R402W,Silent,Missense_R389W exm204079 2 74597937 [T/G] NM_004082,NM_001190836,NM_001135041,NM_023019,NM_001190837,NR_033935,NM_001135040 DCTN1,DCTN1,DCTN1,DCTN1,DCTN1,DCTN1,DCTN1 EXON Missense_L287M,Missense_L250M,Missense_L153M,Missense_L153M,Missense_L280M,Silent,Missense_L267M exm204092 2 74598723 [T/C] NM_004082,NM_001190836,NM_001135041,NM_023019,NM_001190837,NR_033935,NM_001135040 DCTN1,DCTN1,DCTN1,DCTN1,DCTN1,DCTN1,DCTN1 EXON Missense_I196V,Missense_I159V,Missense_I62V,Missense_I62V,Missense_I189V,Silent,Missense_I176V exm204097 2 74598849 [A/G] NM_004082,NM_001190836,NM_001135041,NM_023019,NM_001190837,NR_033935,NM_001135040 DCTN1,DCTN1,DCTN1,DCTN1,DCTN1,DCTN1,DCTN1 EXON Missense_R154C,Missense_R117C,Missense_R20C,Missense_R20C,Missense_R147C,Silent,Missense_R134C exm204100 2 74600066 [A/G] NM_004082,NM_001190836,NM_001135041,NM_023019,NM_001190837,NR_033935,NM_001135040 DCTN1,DCTN1,DCTN1,DCTN1,DCTN1,DCTN1,DCTN1 EXON Missense_R148W,Silent,Missense_R14W,Missense_R14W,Missense_R141W,Silent,Silent exm204125 2 74605306 [G/C] NM_004082,NM_001190836,NM_001190837,NR_033935,NM_001135040 DCTN1,DCTN1,DCTN1,DCTN1,DCTN1 EXON Missense_E34Q,Missense_E17Q,Missense_E34Q,Silent,Missense_E34Q exm2027799 2 74605371 [A/G] NM_004082,NM_001190836,NM_001190837,NR_033935,NM_001135040 DCTN1,DCTN1,DCTN1,DCTN1,DCTN1 EXON Missense_T12M,Silent,Missense_T12M,Silent,Missense_T12M exm2265330 2 74637857 [A/G] exm204134 2 74641512 [A/T] NM_001145054 C2orf81 EXON Missense_T571S exm204135 2 74641622 [A/G] NM_001145054 C2orf81 EXON Missense_V534A exm204163 2 74643215 [T/C] NM_001145054 C2orf81 EXON Missense_D61N exm204179 2 74649461 [A/G] NM_032118 WDR54 EXON Missense_A61T exm204192 2 74650465 [A/G] NM_032118 WDR54 EXON Missense_Y102C exm2255490 2 74650992 [A/G] NM_032118 WDR54 EXON Synonymous_S139S exm204203 2 74651047 [A/G] NM_032118 WDR54 EXON Missense_E158K exm204210 2 74652086 [T/C] NM_032118 WDR54 EXON Missense_R207C exm204213 2 74652240 [T/C] NM_032118 WDR54 EXON Missense_I225T exm204216 2 74652261 [G/C] NM_032118 WDR54 EXON Missense_G232A exm204217 2 74652335 [A/G] NM_032118 WDR54 EXON Missense_A257T exm204222 2 74652724 [A/G] NM_032118 WDR54 EXON Missense_A301T exm204232 2 74653413 [T/C] NM_033046,NM_001015056,NM_001015055 RTKN,RTKN,RTKN EXON Missense_C537Y,Missense_C500Y,Missense_C550Y exm204243 2 74653642 [T/C] NM_033046,NM_001015056,NM_001015055 RTKN,RTKN,RTKN EXON Missense_A461T,Missense_A424T,Missense_A474T exm204246 2 74653674 [A/G] NM_033046,NM_001015056,NM_001015055 RTKN,RTKN,RTKN EXON Missense_A450V,Missense_A413V,Missense_A463V exm204251 2 74654378 [A/C] NM_033046,NM_001015056,NM_001015055 RTKN,RTKN,RTKN EXON Missense_D413E,Missense_D376E,Missense_D426E exm204256 2 74654622 [T/G] NM_033046,NM_001015056,NM_001015055 RTKN,RTKN,RTKN EXON Missense_T382N,Missense_T345N,Missense_T395N exm204258 2 74654665 [T/G] NM_033046,NM_001015056,NM_001015055 RTKN,RTKN,RTKN EXON Missense_L368I,Missense_L331I,Missense_L381I exm204261 2 74654713 [A/G] NM_033046,NM_001015056,NM_001015055 RTKN,RTKN,RTKN EXON Nonsense_R352X,Nonsense_R315X,Nonsense_R365X exm2027841 2 74655433 [T/C] NM_033046,NM_001015056,NM_001015055 RTKN,RTKN,RTKN EXON Missense_T337A,Missense_T300A,Missense_T350A exm204295 2 74657761 [A/C] NM_033046,NM_001015056,NM_001015055 RTKN,RTKN,RTKN EXON Missense_G106C,Missense_G69C,Missense_G119C exm204297 2 74657776 [A/G] NM_033046,NM_001015056,NM_001015055 RTKN,RTKN,RTKN EXON Missense_R101C,Missense_R64C,Missense_R114C exm204298 2 74657782 [T/C] NM_033046,NM_001015056,NM_001015055 RTKN,RTKN,RTKN EXON Missense_A99T,Missense_A62T,Missense_A112T exm2027861 2 74659633 [T/C] NM_033046,NM_001015056,NM_001015055 RTKN,RTKN,RTKN EXON Missense_R78Q,Missense_R41Q,Missense_R91Q exm204305 2 74659649 [T/C] NM_033046,NM_001015056,NM_001015055 RTKN,RTKN,RTKN EXON Missense_M73V,Missense_M36V,Missense_M86V exm204310 2 74659723 [A/G] NM_033046,NM_001015056,NM_001015055 RTKN,RTKN,RTKN EXON Missense_A48V,Missense_A11V,Missense_A61V exm204344 2 74682265 [A/G] NM_031288,NR_037849 INO80B,INO80B-WBP1 EXON Missense_G8R,Silent exm204353 2 74682646 [A/G] NM_031288,NR_037849 INO80B,INO80B-WBP1 EXON Missense_G58R,Silent exm204439 2 74688553 [T/C] NM_001146158,NM_006302 MOGS,MOGS EXON Missense_R682H,Missense_R788H exm204440 2 74688563 [T/C] NM_001146158,NM_006302 MOGS,MOGS EXON Missense_G679S,Missense_G785S exm204458 2 74688854 [T/C] NM_001146158,NM_006302 MOGS,MOGS EXON Missense_A582T,Missense_A688T exm204460 2 74688884 [A/G] NM_001146158,NM_006302 MOGS,MOGS EXON Missense_R572W,Missense_R678W exm204461 2 74688895 [T/C] NM_001146158,NM_006302 MOGS,MOGS EXON Missense_R568Q,Missense_R674Q exm204462 2 74688899 [T/C] NM_001146158,NM_006302 MOGS,MOGS EXON Missense_V567I,Missense_V673I exm204469 2 74689078 [T/C] NM_001146158,NM_006302 MOGS,MOGS EXON Missense_R507Q,Missense_R613Q exm204476 2 74689312 [T/C] NM_001146158,NM_006302 MOGS,MOGS EXON Missense_R429Q,Missense_R535Q exm204477 2 74689335 [T/G] NM_001146158,NM_006302 MOGS,MOGS EXON Missense_D421E,Missense_D527E exm204487 2 74689671 [G/C] NM_001146158,NM_006302 MOGS,MOGS EXON Missense_I309M,Missense_I415M exm204489 2 74689786 [T/C] NM_001146158,NM_006302 MOGS,MOGS EXON Missense_Q271R,Missense_Q377R exm204495 2 74690035 [A/G] NM_001146158,NM_006302 MOGS,MOGS EXON Missense_P188L,Missense_P294L exm204496 2 74690039 [A/G] NM_001146158,NM_006302 MOGS,MOGS EXON Missense_P187S,Missense_P293S exm204499 2 74690058 [G/C] NM_001146158,NM_006302 MOGS,MOGS EXON Missense_Q180H,Missense_Q286H exm204501 2 74690110 [T/C] NM_001146158,NM_006302 MOGS,MOGS EXON Missense_G163E,Missense_G269E exm2273802 2 74690429 [T/C] NM_001146158,NM_006302 MOGS,MOGS EXON Missense_G116R,Missense_G222R exm204519 2 74692191 [T/C] NM_001146158,NM_006302 MOGS,MOGS EXON Silent,Missense_V62M exm204535 2 74699518 [A/C] NM_053050 MRPL53 EXON Missense_D58Y exm204537 2 74699584 [T/C] NM_053050 MRPL53 EXON Missense_T36A exm2238025 2 74699591 [G/C] NM_053050 MRPL53 EXON Missense_F33L exm204538 2 74699595 [T/G] NM_053050 MRPL53 EXON Missense_T32N exm204543 2 74699715 [T/C] NM_053050 MRPL53 EXON Missense_K25E exm204545 2 74699746 [T/A] NM_053050 MRPL53 EXON Missense_K14N exm204547 2 74699778 [A/C] NM_053050 MRPL53 EXON Missense_A4S exm204550 2 74701683 [A/G] NM_032779 CCDC142 EXON Missense_P741L exm204555 2 74701728 [T/C] NM_032779 CCDC142 EXON Missense_R726Q exm204558 2 74701785 [A/G] NM_032779 CCDC142 EXON Missense_P707L exm204560 2 74701824 [T/C] NM_032779 CCDC142 EXON Missense_G694D exm204561 2 74701836 [A/G] NM_032779 CCDC142 EXON Missense_P690L exm204563 2 74701858 [T/G] NM_032779 CCDC142 EXON Missense_P683T exm204585 2 74702482 [C/G] NM_032779 CCDC142 EXON Missense_V549L exm204589 2 74702529 [A/T] NM_032779 CCDC142 EXON Missense_E533V exm204590 2 74702756 [T/C] NM_032779 CCDC142 EXON Missense_R527Q exm204594 2 74707937 [C/G] NM_032779 CCDC142 EXON Missense_Q481E exm204596 2 74708124 [T/C] NM_032779 CCDC142 EXON Missense_D443N exm2238029 2 74708371 [A/G] NM_032779 CCDC142 EXON Missense_R413W exm204615 2 74709054 [T/C] NM_032779 CCDC142 EXON Missense_Q304R exm204623 2 74709208 [T/C] NM_032779 CCDC142 EXON Missense_E253K exm204625 2 74709229 [C/G] NM_032779 CCDC142 EXON Missense_Q246E exm204627 2 74709237 [T/C] NM_032779 CCDC142 EXON Missense_R243Q exm204628 2 74709238 [A/G] NM_032779 CCDC142 EXON Missense_R243W exm204629 2 74709256 [G/C] NM_032779 CCDC142 EXON Missense_R237G exm204630 2 74709268 [A/G] NM_032779 CCDC142 EXON Missense_S233P exm204635 2 74709541 [A/G] NM_032779 CCDC142 EXON Missense_R142C exm204644 2 74709876 [T/G] NM_032779 CCDC142 EXON Missense_Q30P exm204648 2 74709963 [A/G] NM_032779 CCDC142 EXON Missense_M1T exm204656 2 74710238 [A/C] NM_032779,NM_022492,NR_027749 CCDC142,TTC31,TTC31 EXON Silent,Missense_K6Q,Silent exm204657 2 74710242 [C/G] NM_032779,NM_022492,NR_027749 CCDC142,TTC31,TTC31 EXON Silent,Missense_T7S,Silent exm204661 2 74710469 [T/C] NM_022492,NR_027749 TTC31,TTC31 EXON Missense_C21R,Silent exm204662 2 74710491 [T/C] NM_022492,NR_027749 TTC31,TTC31 EXON Missense_A28V,Silent exm204667 2 74717206 [T/C] NM_022492,NR_027749 TTC31,TTC31 EXON Missense_R62W,Silent exm204668 2 74717210 [A/T] NM_022492,NR_027749 TTC31,TTC31 EXON Missense_I63N,Silent exm2273803 2 74717523 [A/G] NM_022492,NR_027749 TTC31,TTC31 EXON Missense_A129T,Silent exm204676 2 74717554 [A/G] NM_022492,NR_027749 TTC31,TTC31 EXON Missense_S139N,Silent exm204684 2 74717798 [T/G] NM_022492,NR_027749 TTC31,TTC31 EXON Missense_A160S,Silent exm204692 2 74718273 [T/C] NM_022492,NR_027749 TTC31,TTC31 EXON Nonsense_R189X,Silent exm204696 2 74718444 [T/A] NM_022492,NR_027749 TTC31,TTC31 EXON Missense_D209V,Silent exm204708 2 74718668 [A/C] NM_022492,NR_027749 TTC31,TTC31 EXON Missense_P249T,Silent exm204709 2 74718680 [T/C] NM_022492,NR_027749 TTC31,TTC31 EXON Missense_R253C,Silent exm204720 2 74719310 [A/G] NM_022492,NR_027749 TTC31,TTC31 EXON Missense_V325M,Silent exm204722 2 74719344 [C/G] NM_022492,NR_027749 TTC31,TTC31 EXON Missense_P336R,Silent exm204727 2 74719457 [A/G] NM_022492,NR_027749 TTC31,TTC31 EXON Missense_H349R,Silent exm204728 2 74719471 [T/C] NM_022492,NR_027749 TTC31,TTC31 EXON Nonsense_Q354X,Silent exm204731 2 74719517 [A/G] NM_022492,NR_027749 TTC31,TTC31 EXON Missense_R369Q,Silent exm204732 2 74719531 [T/C] NM_022492,NR_027749 TTC31,TTC31 EXON Missense_R374W,Silent exm204734 2 74719816 [A/G] NM_022492,NR_027749 TTC31,TTC31 EXON Missense_G402D,Silent exm204741 2 74720079 [T/C] NM_022492,NR_027749 TTC31,TTC31 EXON Missense_P432S,Silent exm204748 2 74720217 [T/C] NM_022492,NR_027749 TTC31,TTC31 EXON Nonsense_R478X,Silent exm204752 2 74720341 [G/C] NM_022492,NR_027749 TTC31,TTC31 EXON Missense_R519T,Silent exm204754 2 74725069 [T/C] NM_001009812 LBX2 EXON Missense_I190M exm204761 2 74725125 [A/G] NM_001009812 LBX2 EXON Missense_L172F exm204772 2 74725213 [C/G] NM_001009812 LBX2 EXON Missense_E142D exm204790 2 74729881 [T/G] NM_001009812,NR_024606 LBX2,LBX2-AS1 EXON Missense_R36S,Silent exm204791 2 74729890 [G/C] NM_001009812,NR_024606 LBX2,LBX2-AS1 EXON Missense_R33G,Silent exm204792 2 74729892 [A/G] NM_001009812,NR_024606 LBX2,LBX2-AS1 EXON Missense_S32F,Silent exm204806 2 74732316 [A/G] NM_032673 PCGF1 EXON Missense_P245L exm204809 2 74732479 [T/C] NM_032673 PCGF1 EXON Missense_R240H exm204810 2 74732492 [T/G] NM_032673 PCGF1 EXON Missense_I236L exm204817 2 74732701 [T/C] NM_032673 PCGF1 EXON Missense_R210H exm204845 2 74733329 [T/C] NM_032673 PCGF1 EXON Missense_V135I exm2255491 2 74741981 [A/C] NM_016170 TLX2 EXON Synonymous_P16P exm204861 2 74741991 [C/G] NM_016170 TLX2 EXON Missense_G20R exm2238034 2 74742133 [T/C] NM_016170 TLX2 EXON Missense_A67V exm204886 2 74743294 [C/G] NM_016170 TLX2 EXON Missense_S278C exm204888 2 74745596 [T/C] NM_133637 DQX1 EXON Missense_R711G exm204892 2 74745678 [G/C] NM_133637 DQX1 EXON Missense_E683D exm204893 2 74746166 [T/C] NM_133637 DQX1 Silent exm204895 2 74746239 [T/C] NM_133637 DQX1 EXON Nonsense_W642X exm204902 2 74746723 [T/C] NM_133637 DQX1 EXON Missense_R589K exm2028028 2 74746771 [A/G] NM_133637 DQX1 EXON Missense_I573T exm204906 2 74746775 [A/G] NM_133637 DQX1 EXON Nonsense_R572X exm204909 2 74746871 [T/C] NM_133637 DQX1 EXON Missense_G540R exm204914 2 74747092 [A/G] NM_133637 DQX1 EXON Missense_T522M exm204916 2 74747111 [A/G] NM_133637 DQX1 EXON Missense_R516C exm204917 2 74747143 [T/C] NM_133637 DQX1 EXON Missense_R505H exm204928 2 74750039 [A/G] NM_133637 DQX1 EXON Missense_L416P exm204935 2 74750341 [T/G] NM_133637 DQX1 EXON Missense_Y350S exm204940 2 74750497 [C/G] NM_133637 DQX1 EXON Missense_D328E exm204954 2 74751228 [T/C] NM_133637 DQX1 EXON Missense_R213Q exm204957 2 74751283 [A/G] NM_133637 DQX1 EXON Missense_P195S exm204959 2 74751294 [A/T] NM_133637 DQX1 EXON Missense_L191Q exm204969 2 74752226 [T/C] NM_133637 DQX1 EXON Missense_R114Q exm204974 2 74752756 [T/C] NM_133637 DQX1 EXON Missense_R34H exm204981 2 74754170 [A/G] NM_181575 AUP1 EXON Missense_P365L exm204985 2 74754440 [T/C] NM_181575 AUP1 EXON Missense_V338I exm204988 2 74754874 [T/C] NM_181575 AUP1 EXON Missense_R277H exm204992 2 74754902 [T/C] NM_181575 AUP1 EXON Missense_M268V exm204996 2 74755105 [G/C] NM_181575 AUP1 EXON Missense_G234R exm205016 2 74756499 [C/G] NM_181575 AUP1 EXON Missense_V60L exm205017 2 74756514 [T/C] NM_181575 AUP1 EXON Missense_A55T exm205039 2 74757335 [T/C] NM_145074,NM_013247 HTRA2,HTRA2 EXON Missense_P68S,Missense_P68S exm205040 2 74757348 [T/C] NM_145074,NM_013247 HTRA2,HTRA2 EXON Missense_L72P,Missense_L72P exm205075 2 74759825 [A/G] NM_145074,NM_013247 HTRA2,HTRA2 EXON Silent,Missense_G399S exm205079 2 74759982 [T/C] NM_145074,NM_013247,NM_032603 HTRA2,HTRA2,LOXL3 EXON Missense_I319T,Missense_I416T,Silent exm2255493 2 74761453 [T/C] NM_032603 LOXL3 EXON Synonymous_E643E exm205097 2 74761453 [T/C] NM_032603 LOXL3 EXON Synonymous_E643E exm205109 2 74761835 [A/G] NM_032603 LOXL3 EXON Missense_L549P exm205129 2 74763157 [T/C] NM_032603 LOXL3 EXON Missense_R405Q exm205131 2 74763247 [T/C] NM_032603 LOXL3 EXON Missense_R375H exm205132 2 74763248 [A/G] NM_032603 LOXL3 EXON Missense_R375C exm205133 2 74763251 [G/C] NM_032603 LOXL3 EXON Missense_V374L exm205138 2 74763450 [T/C] NM_032603 LOXL3 EXON Missense_R354Q exm205146 2 74763594 [T/C] NM_032603 LOXL3 EXON Missense_R306H exm205158 2 74776511 [T/C] NM_032603,NM_001197260 LOXL3,DOK1 EXON Missense_N226S,Silent exm205163 2 74776661 [T/C] NM_032603,NM_001197260 LOXL3,DOK1 EXON Missense_G176E,Silent exm2028120 2 74777472 [A/C] NM_032603,NM_001197260 LOXL3,DOK1 EXON Missense_R106L,Silent exm2238041 2 74779628 [T/C] NM_032603,NM_001197260 LOXL3,DOK1 EXON Missense_R45Q,Silent exm2028134 2 74782534 [G/C] NM_001197260,NM_001381 DOK1,DOK1 EXON Silent,Missense_P105R exm205201 2 74782734 [C/G] NM_001197260,NM_001381 DOK1,DOK1 EXON Silent,Missense_N131K exm205211 2 74783484 [A/C] NM_001197260,NM_001381 DOK1,DOK1 EXON Missense_T91N,Missense_T230N exm205220 2 74783760 [T/C] NM_001197260,NM_001381 DOK1,DOK1 EXON Missense_T183M,Missense_T322M exm205235 2 74784134 [A/G] NM_001197260,NM_001381 DOK1,DOK1 EXON Missense_A308T,Missense_A447T exm205241 2 74784207 [A/C] NM_001197260,NM_001381 DOK1,DOK1 EXON Missense_D332A,Missense_D471A exm205252 2 74785979 [C/G] NM_138804 M1AP EXON Missense_R486P exm205259 2 74787286 [A/G] NM_138804 M1AP EXON Missense_P472S exm205260 2 74787292 [A/G] NM_138804 M1AP EXON Nonsense_R470X exm2275595 2 74803613 [A/G] NM_138804 M1AP EXON Missense_S301L exm205281 2 74803676 [A/G] NM_138804 M1AP EXON Missense_S280F exm205285 2 74803718 [T/C] NM_138804 M1AP EXON Missense_R266Q exm2028165 2 74803719 [A/G] NM_138804 M1AP EXON Nonsense_R266X exm2028166 2 74803744 [T/C] NM_138804 M1AP EXON Missense_M257I exm205286 2 74808819 [T/C] NM_138804 M1AP EXON Missense_R251G exm205288 2 74808875 [A/G] NM_138804 M1AP EXON Missense_T232I exm205293 2 74834227 [G/C] NM_138804 M1AP EXON Missense_E184Q exm205304 2 74842194 [T/C] NM_138804 M1AP EXON Missense_Q108R exm205312 2 74867194 [T/C] NM_138804 M1AP EXON Missense_Q70R exm205321 2 74867339 [G/C] NM_138804 M1AP EXON Missense_P22A exm205324 2 74867389 [T/C] NM_138804 M1AP EXON Missense_R5Q exm205346 2 74885016 [A/G] NM_001271662,NM_004263,NR_073398,NR_073399,NM_001271661 SEMA4F,SEMA4F,SEMA4F,SEMA4F,SEMA4F EXON Silent,Missense_A132T,Silent,Silent,Silent exm2028211 2 74901713 [A/G] NM_001271662,NM_004263,NR_073398,NR_073399,NM_001271661 SEMA4F,SEMA4F,SEMA4F,SEMA4F,SEMA4F EXON Missense_R271Q,Missense_R304Q,Silent,Silent,Missense_R149Q exm205378 2 74901773 [T/C] NM_001271662,NM_004263,NR_073398,NR_073399,NM_001271661 SEMA4F,SEMA4F,SEMA4F,SEMA4F,SEMA4F EXON Missense_P291L,Missense_P324L,Silent,Silent,Missense_P169L exm205380 2 74902022 [A/G] NM_001271662,NM_004263,NR_073398,NR_073399,NM_001271661 SEMA4F,SEMA4F,SEMA4F,SEMA4F,SEMA4F EXON Missense_A304T,Missense_A337T,Silent,Silent,Missense_A182T exm205402 2 74902897 [T/C] NM_001271662,NM_004263,NR_073398,NR_073399,NM_001271661 SEMA4F,SEMA4F,SEMA4F,SEMA4F,SEMA4F EXON Missense_R469C,Missense_R502C,Silent,Silent,Missense_R347C exm205404 2 74902936 [T/C] NM_001271662,NM_004263,NR_073398,NR_073399,NM_001271661 SEMA4F,SEMA4F,SEMA4F,SEMA4F,SEMA4F EXON Missense_R482C,Missense_R515C,Silent,Silent,Missense_R360C exm205419 2 74906882 [T/C] NM_001271662,NM_004263,NR_073398,NR_073399,NM_001271661 SEMA4F,SEMA4F,SEMA4F,SEMA4F,SEMA4F EXON Missense_P587L,Missense_P620L,Silent,Silent,Missense_P465L exm205422 2 74906896 [A/G] NM_001271662,NM_004263,NR_073398,NR_073399,NM_001271661 SEMA4F,SEMA4F,SEMA4F,SEMA4F,SEMA4F EXON Missense_A592T,Missense_A625T,Silent,Silent,Missense_A470T exm205428 2 74906986 [T/C] NM_001271662,NM_004263,NR_073398,NR_073399,NM_001271661 SEMA4F,SEMA4F,SEMA4F,SEMA4F,SEMA4F EXON Missense_R622W,Missense_R655W,Silent,Silent,Missense_R500W exm205429 2 74906987 [A/G] NM_001271662,NM_004263,NR_073398,NR_073399,NM_001271661 SEMA4F,SEMA4F,SEMA4F,SEMA4F,SEMA4F EXON Missense_R622Q,Missense_R655Q,Silent,Silent,Missense_R500Q exm205438 2 74907167 [A/G] NM_001271662,NM_004263,NR_073398,NR_073399,NM_001271661 SEMA4F,SEMA4F,SEMA4F,SEMA4F,SEMA4F EXON Missense_D682G,Missense_D715G,Silent,Silent,Missense_D560G exm205441 2 74907192 [T/G] NM_001271662,NM_004263,NR_073398,NR_073399,NM_001271661 SEMA4F,SEMA4F,SEMA4F,SEMA4F,SEMA4F EXON Missense_D690E,Missense_D723E,Silent,Silent,Missense_D568E exm205446 2 74907227 [A/G] NM_001271662,NM_004263,NR_073398,NR_073399,NM_001271661 SEMA4F,SEMA4F,SEMA4F,SEMA4F,SEMA4F EXON Missense_S702N,Missense_S735N,Silent,Silent,Missense_S580N exm205466 2 75099477 [T/A] NM_000189 HK2 EXON Missense_Q142H exm205474 2 75100475 [T/C] NM_000189 HK2 EXON Missense_R190W exm2255496 2 75100982 [T/C] NM_000189 HK2 EXON Synonymous_I201I exm205494 2 75104379 [C/G] NM_000189 HK2 EXON Missense_G321A exm205497 2 75104411 [A/G] NM_000189 HK2 EXON Missense_G332S exm205500 2 75105840 [T/C] NM_000189 HK2 EXON Missense_R353C exm2269085 2 75107048 [T/G] NM_000189 HK2 Silent exm205513 2 75107432 [T/C] NM_000189 HK2 EXON Missense_P436S exm205554 2 75113652 [T/C] NM_000189 HK2 EXON Missense_R691C exm205569 2 75115133 [T/C] NM_000189 HK2 EXON Missense_R775W exm205587 2 75117955 [A/G] NM_000189 HK2 EXON Missense_D881N exm2273358 2 75196731 [A/G] NM_019896 POLE4 EXON Silent exm205628 2 75276688 [G/C] NM_001058 TACR1 EXON Missense_H365Q exm205631 2 75276801 [T/C] NM_001058 TACR1 EXON Missense_A328T exm205638 2 75278553 [T/C] NM_001058,NM_015727 TACR1,TACR1 EXON Missense_V253M,Missense_V253M exm205641 2 75280748 [A/G] NM_001058,NM_015727 TACR1,TACR1 EXON Missense_V240A,Missense_V240A exm205645 2 75347710 [A/G] NM_001058,NM_015727 TACR1,TACR1 EXON Missense_Y192H,Missense_Y192H exm2269285 2 75460060 [T/G] exm2238047 2 75720583 [T/C] NM_032181,NM_001135032 EVA1A,EVA1A EXON Missense_D80N,Missense_D80N exm205688 2 75720588 [T/C] NM_032181,NM_001135032 EVA1A,EVA1A EXON Missense_S78N,Missense_S78N exm205689 2 75720637 [T/C] NM_032181,NM_001135032 EVA1A,EVA1A EXON Missense_D62N,Missense_D62N exm2255498 2 75853788 [T/C] exm205712 2 75874015 [C/G] NM_014763 MRPL19 EXON Missense_P28A exm205721 2 75879294 [A/G] NM_014763 MRPL19 EXON Missense_R83Q exm205722 2 75879359 [A/G] NM_014763 MRPL19 EXON Missense_V105I exm205725 2 75879663 [A/G] NM_014763 MRPL19 EXON Missense_V119I exm205729 2 75879756 [A/G] NM_014763 MRPL19 EXON Missense_I150V exm205736 2 75881958 [A/G] NM_014763 MRPL19 EXON Missense_R191Q exm205738 2 75882032 [A/C] NM_014763 MRPL19 EXON Missense_P216T exm2028328 2 75882199 [A/G] NM_014763 MRPL19 EXON Missense_K223E exm205754 2 75891858 [A/C] NM_001201334,NM_003203 GCFC2,GCFC2 EXON Missense_N591K,Missense_N760K exm205755 2 75891865 [C/G] NM_001201334,NM_003203 GCFC2,GCFC2 EXON Missense_A589G,Missense_A758G exm205756 2 75891890 [T/C] NM_001201334,NM_003203 GCFC2,GCFC2 EXON Missense_I581V,Missense_I750V exm205762 2 75893101 [G/C] NM_001201334,NM_003203 GCFC2,GCFC2 EXON Missense_Q559E,Missense_Q728E exm205763 2 75893111 [T/G] NM_001201334,NM_003203 GCFC2,GCFC2 EXON Missense_E555D,Missense_E724D exm205770 2 75897304 [T/C] NM_001201334,NM_003203 GCFC2,GCFC2 EXON Missense_N519S,Missense_N688S exm205779 2 75899101 [T/C] NM_001201334,NM_003203 GCFC2,GCFC2 EXON Missense_E475G,Missense_E644G exm205787 2 75907347 [G/C] NM_001201334,NM_003203 GCFC2,GCFC2 EXON Missense_C426S,Missense_C595S exm205788 2 75907351 [T/C] NM_001201334,NM_003203 GCFC2,GCFC2 EXON Missense_T425A,Missense_T594A exm205792 2 75914962 [A/G] NM_001201334,NM_003203 GCFC2,GCFC2 EXON Nonsense_R392X,Nonsense_R561X exm205794 2 75914985 [T/A] NM_001201334,NM_003203 GCFC2,GCFC2 EXON Missense_I384N,Missense_I553N exm205795 2 75914986 [T/C] NM_001201334,NM_003203 GCFC2,GCFC2 EXON Missense_I384V,Missense_I553V exm205803 2 75916193 [T/G] NM_001201334,NM_003203 GCFC2,GCFC2 EXON Missense_P331T,Missense_P500T exm205808 2 75916303 [T/C] NM_001201334,NM_003203 GCFC2,GCFC2 EXON Missense_D294G,Missense_D463G exm2238052 2 75916309 [T/C] NM_001201334,NM_003203 GCFC2,GCFC2 EXON Missense_Q292R,Missense_Q461R exm2028344 2 75916340 [T/G] NM_001201334,NM_003203 GCFC2,GCFC2 EXON Missense_Q282K,Missense_Q451K exm205811 2 75917161 [G/C] NM_001201334,NM_003203 GCFC2,GCFC2 EXON Missense_Q256E,Missense_Q425E exm205823 2 75919202 [A/C] NM_001201334,NM_003203 GCFC2,GCFC2 EXON Missense_S180A,Missense_S349A exm2028351 2 75921366 [T/C] NM_001201334,NM_003203 GCFC2,GCFC2 Silent,Silent exm205831 2 75921502 [T/G] NM_001201334,NM_003203 GCFC2,GCFC2 EXON Missense_K126N,Missense_K295N exm205834 2 75923368 [A/G] NM_001201334,NM_003203 GCFC2,GCFC2 EXON Missense_P95L,Missense_P264L exm205836 2 75923413 [T/C] NM_001201334,NM_003203 GCFC2,GCFC2 EXON Missense_N80S,Missense_N249S exm205842 2 75929362 [T/G] NM_001201334,NM_003203,NM_001201335 GCFC2,GCFC2,GCFC2 EXON Missense_R25S,Missense_R194S,Missense_R194S exm205844 2 75929381 [T/C] NM_001201334,NM_003203,NM_001201335 GCFC2,GCFC2,GCFC2 EXON Missense_R19K,Missense_R188K,Missense_R188K exm205849 2 75929513 [T/C] NM_001201334,NM_003203,NM_001201335 GCFC2,GCFC2,GCFC2 EXON Silent,Missense_R144H,Missense_R144H exm205858 2 75933779 [T/C] NM_001201334,NM_003203,NM_001201335 GCFC2,GCFC2,GCFC2 Silent,Silent,Silent exm2265162 2 76240260 [A/G] exm2269286 2 76431277 [T/G] exm2265163 2 76918322 [A/G] exm205867 2 76975828 [T/G] NM_001134745 LRRTM4 EXON Missense_A589E exm205874 2 76975931 [G/C] NM_001134745 LRRTM4 EXON Missense_P555A exm2261313 2 77512571 [T/C] NM_001134745 LRRTM4 Silent exm2269087 2 77589901 [T/C] NM_001134745 LRRTM4 Silent exm205881 2 77745815 [T/C] NM_001134745,NM_024993 LRRTM4,LRRTM4 EXON Missense_V394I,Missense_V394I exm205883 2 77745866 [T/A] NM_001134745,NM_024993 LRRTM4,LRRTM4 EXON Missense_T377S,Missense_T377S exm205904 2 77746839 [G/C] NM_001134745,NM_024993 LRRTM4,LRRTM4 EXON Missense_F52L,Missense_F52L exm-rs7595103 2 78075244 [A/G] exm2269088 2 78104290 [T/C] exm2265164 2 78830137 [A/G] exm205913 2 79253210 [T/C] NM_001008387,NM_198448,NM_001270040 REG3G,REG3G,REG3G EXON Silent,Silent,Silent exm2028385 2 79253283 [T/G] NM_001008387,NM_198448,NM_001270040 REG3G,REG3G,REG3G EXON Missense_C22G,Missense_C22G,Missense_C22G exm205925 2 79253872 [A/G] NM_001008387,NM_198448,NM_001270040 REG3G,REG3G,REG3G EXON Missense_R37Q,Missense_R37Q,Missense_R37Q exm2028388 2 79253943 [A/T] NM_001008387,NM_198448,NM_001270040 REG3G,REG3G,REG3G EXON Missense_W61R,Missense_W61R,Missense_W61R exm205931 2 79254168 [A/C] NM_001008387,NM_198448,NM_001270040 REG3G,REG3G,REG3G EXON Nonsense_C68X,Nonsense_C68X,Silent exm205932 2 79254175 [T/C] NM_001008387,NM_198448,NM_001270040 REG3G,REG3G,REG3G EXON Missense_R71W,Missense_R71W,Silent exm205934 2 79254179 [G/C] NM_001008387,NM_198448,NM_001270040 REG3G,REG3G,REG3G EXON Missense_P72R,Missense_P72R,Silent exm205948 2 79254937 [T/C] NM_001008387,NM_198448,NM_001270040 REG3G,REG3G,REG3G EXON Missense_S113F,Missense_S113F,Missense_S67F exm205949 2 79254949 [A/G] NM_001008387,NM_198448,NM_001270040 REG3G,REG3G,REG3G EXON Missense_G117E,Missense_G117E,Missense_G71E exm205950 2 79254988 [A/G] NM_001008387,NM_198448,NM_001270040 REG3G,REG3G,REG3G EXON Missense_Y130C,Missense_Y130C,Missense_Y84C exm205951 2 79254997 [A/G] NM_001008387,NM_198448,NM_001270040 REG3G,REG3G,REG3G EXON Nonsense_W133X,Nonsense_W133X,Nonsense_W87X exm205959 2 79255374 [A/T] NM_001008387,NM_198448,NM_001270040 REG3G,REG3G,REG3G EXON Nonsense_L167X,Nonsense_L167X,Nonsense_L121X exm205960 2 79255377 [T/C] NM_001008387,NM_198448,NM_001270040 REG3G,REG3G,REG3G EXON Missense_P168L,Missense_P168L,Missense_P122L exm205978 2 79312725 [T/C] NM_006507 REG1B EXON Missense_R109H exm205984 2 79313522 [T/C] NM_006507 REG1B EXON Missense_V98I exm2028404 2 79313531 [T/C] NM_006507 REG1B EXON Missense_D95N exm205985 2 79313533 [T/G] NM_006507 REG1B EXON Missense_D94A exm205986 2 79313544 [C/G] NM_006507 REG1B EXON Missense_E90D exm205989 2 79313574 [G/C] NM_006507 REG1B EXON Missense_E80D exm205990 2 79313578 [A/G] NM_006507 REG1B EXON Missense_A79V exm206001 2 79313990 [T/C] NM_006507 REG1B EXON Missense_R44H exm2255506 2 79332485 [T/C] exm206038 2 79349974 [A/G] NM_002909 REG1A EXON Missense_R110H exm206051 2 79350294 [A/G] NM_002909 REG1A EXON Missense_V152M exm2255507 2 79385786 [T/C] NM_138938,NM_138937,NM_002580 REG3A,REG3A,REG3A EXON Synonymous_T62T,Synonymous_T62T,Synonymous_T62T exm206090 2 79385857 [T/G] NM_138938,NM_138937,NM_002580 REG3A,REG3A,REG3A EXON Missense_R39S,Missense_R39S,Missense_R39S exm206091 2 79385859 [T/A] NM_138938,NM_138937,NM_002580 REG3A,REG3A,REG3A EXON Missense_I38N,Missense_I38N,Missense_I38N exm206094 2 79385868 [A/G] NM_138938,NM_138937,NM_002580 REG3A,REG3A,REG3A EXON Missense_S35F,Missense_S35F,Missense_S35F exm2269288 2 79448921 [T/C] exm-rs399885 2 79687252 [A/C] exm-rs7570469 2 79709354 [T/C] exm2269090 2 79761016 [T/C] NM_001164883,NM_004389 CTNNA2,CTNNA2 Silent,Silent exm-rs6740609 2 79855622 [T/C] NM_001164883,NM_004389 CTNNA2,CTNNA2 Silent,Silent exm-rs11695685 2 79922802 [T/C] NM_001164883,NM_004389 CTNNA2,CTNNA2 Silent,Silent exm2255509 2 80101372 [T/C] NM_001164883,NM_004389 CTNNA2,CTNNA2 EXON Synonymous_A252A,Synonymous_A252A exm206154 2 80136793 [T/G] NM_001164883,NM_004389 CTNNA2,CTNNA2 EXON Missense_S309I,Missense_S309I exm2255510 2 80177744 [T/C] NM_001164883,NM_004389 CTNNA2,CTNNA2 Silent,Silent exm-rs10496236 2 80299354 [A/C] NM_001164883,NM_004389 CTNNA2,CTNNA2 Silent,Silent exm206167 2 80529496 [G/C] NM_001164883,NM_004389,NM_178839 CTNNA2,CTNNA2,LRRTM1 EXON Silent,Silent,Missense_M483I exm206169 2 80529551 [A/C] NM_001164883,NM_004389,NM_178839 CTNNA2,CTNNA2,LRRTM1 EXON Silent,Silent,Missense_V465G exm206188 2 80529738 [A/C] NM_001164883,NM_004389,NM_178839 CTNNA2,CTNNA2,LRRTM1 EXON Silent,Silent,Missense_D403Y exm206195 2 80529933 [T/C] NM_001164883,NM_004389,NM_178839 CTNNA2,CTNNA2,LRRTM1 EXON Silent,Silent,Missense_G338S exm206196 2 80529956 [T/C] NM_001164883,NM_004389,NM_178839 CTNNA2,CTNNA2,LRRTM1 EXON Silent,Silent,Missense_N330S exm206199 2 80530016 [T/G] NM_001164883,NM_004389,NM_178839 CTNNA2,CTNNA2,LRRTM1 EXON Silent,Silent,Missense_T310N exm206201 2 80530062 [T/C] NM_001164883,NM_004389,NM_178839 CTNNA2,CTNNA2,LRRTM1 EXON Silent,Silent,Missense_I295V exm206205 2 80530205 [A/G] NM_001164883,NM_004389,NM_178839 CTNNA2,CTNNA2,LRRTM1 EXON Silent,Silent,Missense_I247T exm206217 2 80530625 [T/C] NM_001164883,NM_004389,NM_178839 CTNNA2,CTNNA2,LRRTM1 EXON Silent,Silent,Missense_D107G exm206231 2 80530868 [T/C] NM_001164883,NM_004389,NM_178839 CTNNA2,CTNNA2,LRRTM1 EXON Silent,Silent,Missense_G26E exm206240 2 80620370 [T/C] NM_001164883,NM_004389 CTNNA2,CTNNA2 EXON Missense_I364T,Missense_I364T exm206242 2 80646623 [A/G] NM_001164883,NM_004389 CTNNA2,CTNNA2 EXON Missense_N396S,Missense_N396S exm2269289 2 80664439 [T/G] NM_001164883,NM_004389 CTNNA2,CTNNA2 Silent,Silent exm2255511 2 80698371 [T/C] NM_001164883,NM_004389 CTNNA2,CTNNA2 Silent,Silent exm206263 2 80801296 [T/C] NM_001164883,NM_004389 CTNNA2,CTNNA2 EXON Missense_R584C,Missense_R584C exm206285 2 80874764 [A/G] NM_001164883,NM_004389 CTNNA2,CTNNA2 EXON Missense_V784I,Missense_V829I exm2255512 2 81098202 [T/C] exm2269094 2 81583557 [T/C] exm-rs10496265 2 81668808 [T/C] exm-rs10496262 2 81751124 [A/C] exm2263897 2 82325531 [A/C] exm2265165 2 82432988 [A/G] exm2261319 2 82892794 [A/C] exm-rs17022444 2 83029469 [C/G] exm2265166 2 83094402 [A/G] exm2261320 2 83146534 [A/C] exm-rs10496288 2 83292565 [T/C] exm2263898 2 83756856 [A/C] exm2265167 2 83922229 [A/G] exm-rs13398848 2 84245168 [A/G] exm-rs1447537 2 84246586 [A/G] exm-rs4144835 2 84309778 [T/C] exm2269291 2 84330303 [T/C] exm206318 2 84658736 [T/C] NM_003849 SUCLG1 EXON Missense_E241K exm206326 2 84668421 [A/G] NM_003849 SUCLG1 EXON Missense_R161C exm206336 2 84668537 [A/G] NM_003849 SUCLG1 EXON Missense_P122L exm206338 2 84668561 [A/G] NM_003849 SUCLG1 EXON Missense_T114M exm206348 2 84670490 [T/C] NM_003849 SUCLG1 EXON Missense_G79D exm2275596 2 84676815 [A/G] NM_003849 SUCLG1 EXON Synonymous_D53D exm2028523 2 84676815 [A/T] NM_003849 SUCLG1 EXON Missense_D53E exm206355 2 84676873 [A/G] NM_003849 SUCLG1 EXON Missense_P34L exm206363 2 84745113 [T/C] NM_001370 DNAH6 EXON Missense_H55Y exm206369 2 84756035 [A/G] NM_001370 DNAH6 EXON Missense_R136Q exm206370 2 84756049 [A/G] NM_001370 DNAH6 EXON Missense_V141M exm206391 2 84774689 [A/G] NM_001370 DNAH6 EXON Missense_R380H exm206392 2 84775496 [A/G] NM_001370 DNAH6 EXON Missense_Y424C exm206396 2 84777021 [A/G] NM_001370 DNAH6 EXON Missense_R442H exm206400 2 84777081 [T/C] NM_001370 DNAH6 EXON Missense_S462L exm2028529 2 84777113 [C/G] NM_001370 DNAH6 EXON Missense_R473G exm206403 2 84777114 [A/G] NM_001370 DNAH6 EXON Missense_R473Q exm206408 2 84784871 [A/G] NM_001370 DNAH6 EXON Missense_G539S exm206422 2 84800621 [T/C] NM_001370 DNAH6 EXON Missense_R612C exm2238058 2 84804389 [T/A] NM_001370 DNAH6 EXON Missense_F645I exm206427 2 84804476 [A/G] NM_001370 DNAH6 EXON Missense_I674V exm206428 2 84804486 [A/G] NM_001370 DNAH6 EXON Missense_R677K exm206431 2 84804515 [A/C] NM_001370 DNAH6 EXON Missense_P687T exm206432 2 84804522 [T/G] NM_001370 DNAH6 EXON Missense_R689L exm206437 2 84806724 [A/G] NM_001370 DNAH6 EXON Missense_E717G exm206440 2 84806753 [A/G] NM_001370 DNAH6 EXON Missense_T727A exm2028550 2 84838960 [C/G] NM_001370 DNAH6 EXON Missense_R1153G exm206493 2 84846930 [A/G] NM_001370 DNAH6 EXON Missense_M1232V exm206501 2 84848596 [A/G] NM_001370 DNAH6 EXON Missense_R1331H exm206524 2 84880445 [G/C] NM_001370 DNAH6 EXON Missense_G1694A exm206535 2 84886244 [A/C] NM_001370 DNAH6 EXON Missense_S2012Y exm206540 2 84897501 [A/G] NM_001370 DNAH6 EXON Missense_Y2119C exm2255522 2 84897517 [A/G] NM_001370 DNAH6 EXON Synonymous_L2124L exm206543 2 84899498 [T/A] NM_001370 DNAH6 EXON Missense_M2168L exm206545 2 84899523 [G/C] NM_001370 DNAH6 EXON Missense_S2176C exm206549 2 84908539 [A/G] NM_001370 DNAH6 EXON Missense_S2268N exm206552 2 84913635 [T/C] NM_001370 DNAH6 EXON Missense_L2364P exm206561 2 84924783 [G/C] NM_001370 DNAH6 EXON Missense_E2537Q exm206563 2 84924823 [T/C] NM_001370 DNAH6 EXON Missense_V2550A exm206571 2 84928377 [T/C] NM_001370 DNAH6 EXON Missense_R2659W exm206573 2 84928399 [A/C] NM_001370 DNAH6 EXON Missense_S2666Y exm206583 2 84932720 [A/G] NM_001370 DNAH6 EXON Missense_K2859R exm206585 2 84932836 [A/G] NM_001370 DNAH6 EXON Missense_V2898I exm206587 2 84932866 [A/G] NM_001370 DNAH6 EXON Missense_A2908T exm206597 2 84940276 [A/G] NM_001370 DNAH6 EXON Missense_S3146G exm2238063 2 84940298 [A/G] NM_001370 DNAH6 EXON Missense_R3153H exm206612 2 84960619 [A/G] NM_001370 DNAH6 EXON Missense_A3420T exm206619 2 84972341 [A/C] NM_001370 DNAH6 EXON Missense_L3494I exm206621 2 84989894 [A/G] NM_001370 DNAH6 EXON Missense_T3510A exm206628 2 85012762 [A/G] NM_001370 DNAH6 EXON Missense_R3661H exm206629 2 85012777 [A/G] NM_001370 DNAH6 EXON Missense_R3666Q exm206638 2 85032849 [A/G] NM_001370 DNAH6 EXON Missense_G3848S exm206639 2 85032868 [A/G] NM_001370 DNAH6 EXON Missense_N3854S exm206641 2 85035596 [A/G] NM_001370 DNAH6 EXON Missense_R3890H exm206645 2 85039465 [A/G] NM_001370 DNAH6 EXON Missense_T3914A exm206649 2 85040203 [T/C] NM_001370 DNAH6 EXON Missense_P3983S exm206657 2 85043186 [A/G] NM_001370 DNAH6 EXON Missense_A4118T exm206667 2 85049153 [T/C] NM_001080824 TRABD2A EXON Missense_R420H exm2238065 2 85049157 [A/G] NM_001080824 TRABD2A EXON Missense_R419C exm206672 2 85051122 [A/G] NM_001080824 TRABD2A EXON Missense_P381L exm206678 2 85051251 [A/G] NM_001080824 TRABD2A EXON Missense_P338L exm206683 2 85059204 [T/C] NM_001080824 TRABD2A EXON Missense_A304T exm206685 2 85059227 [T/C] NM_001080824 TRABD2A EXON Missense_R296H exm206688 2 85059255 [T/C] NM_001080824 TRABD2A EXON Missense_N287D exm206691 2 85066333 [A/G] NM_001080824 TRABD2A EXON Missense_R262W exm206696 2 85066372 [A/G] NM_001080824 TRABD2A EXON Missense_R249W exm206702 2 85097425 [T/C] NM_001080824 TRABD2A EXON Missense_R198Q exm206707 2 85097476 [T/G] NM_001080824 TRABD2A EXON Missense_K181T exm206744 2 85280375 [A/G] NM_020122 KCMF1 EXON Missense_R330H exm2263899 2 85299783 [A/C] exm-rs2583556 2 85331686 [A/G] exm2261322 2 85459880 [A/G] NM_031283 TCF7L1 Silent exm206770 2 85510654 [T/A] NM_031283 TCF7L1 EXON Missense_S160T exm206779 2 85529643 [A/G] NM_031283 TCF7L1 EXON Missense_M188V exm206780 2 85529650 [T/C] NM_031283 TCF7L1 EXON Missense_P190L exm206782 2 85529694 [A/G] NM_031283 TCF7L1 EXON Missense_G205S exm206789 2 85531116 [T/C] NM_031283 TCF7L1 EXON Missense_P253S exm206800 2 85532525 [A/G] NM_031283 TCF7L1 EXON Missense_V330M exm206806 2 85533637 [C/G] NM_031283 TCF7L1 EXON Missense_Q404H exm206819 2 85536415 [A/G] NM_031283 TCF7L1 EXON Missense_G533R exm206832 2 85536565 [A/G] NM_031283 TCF7L1 EXON Missense_V583I exm2273359 2 85549527 [T/C] NM_001206841,NM_001206840,NM_006464,NM_001206844 TGOLN2,TGOLN2,TGOLN2,TGOLN2 EXON Silent,Silent,Silent,Silent exm206835 2 85549868 [A/G] NM_001206841,NM_001206840,NM_006464,NM_001206844 TGOLN2,TGOLN2,TGOLN2,TGOLN2 EXON Missense_L441P,Missense_X455Q,Silent,Silent exm206836 2 85549874 [A/G] NM_001206841,NM_001206840,NM_006464,NM_001206844 TGOLN2,TGOLN2,TGOLN2,TGOLN2 EXON Missense_F439S,Missense_F453L,Silent,Silent exm206846 2 85553842 [A/G] NM_001206841,NM_001206840,NM_006464,NM_001206844 TGOLN2,TGOLN2,TGOLN2,TGOLN2 EXON Missense_P338L,Missense_P338L,Missense_P338L,Missense_P280L exm206853 2 85554055 [T/G] NM_001206841,NM_001206840,NM_006464,NM_001206844 TGOLN2,TGOLN2,TGOLN2,TGOLN2 EXON Missense_S267Y,Missense_S267Y,Missense_S267Y,Silent exm206855 2 85554080 [A/G] NM_001206841,NM_001206840,NM_006464,NM_001206844 TGOLN2,TGOLN2,TGOLN2,TGOLN2 EXON Missense_R259W,Missense_R259W,Missense_R259W,Silent exm206869 2 85554265 [T/C] NM_001206841,NM_001206840,NM_006464,NM_001206844 TGOLN2,TGOLN2,TGOLN2,TGOLN2 EXON Missense_G197D,Missense_G197D,Missense_G197D,Missense_G197D exm206870 2 85554287 [T/C] NM_001206841,NM_001206840,NM_006464,NM_001206844 TGOLN2,TGOLN2,TGOLN2,TGOLN2 EXON Missense_K190E,Missense_K190E,Missense_K190E,Missense_K190E exm206879 2 85554433 [T/C] NM_001206841,NM_001206840,NM_006464,NM_001206844 TGOLN2,TGOLN2,TGOLN2,TGOLN2 EXON Missense_G141D,Missense_G141D,Missense_G141D,Missense_G141D exm206892 2 85554680 [T/C] NM_001206841,NM_001206840,NM_006464,NM_001206844 TGOLN2,TGOLN2,TGOLN2,TGOLN2 EXON Missense_E59K,Missense_E59K,Missense_E59K,Missense_E59K exm206898 2 85555069 [A/G] NM_001206841,NM_001206840,NM_006464,NM_001206844 TGOLN2,TGOLN2,TGOLN2,TGOLN2 EXON Missense_A6V,Missense_A6V,Missense_A6V,Missense_A6V exm206909 2 85570442 [T/C] NM_017750 RETSAT EXON Missense_A586T exm206925 2 85571180 [A/G] NM_017750 RETSAT EXON Missense_S492F exm206927 2 85571210 [T/C] NM_017750 RETSAT EXON Missense_R482Q exm206931 2 85571225 [T/C] NM_017750 RETSAT EXON Missense_E477G exm206962 2 85571823 [T/C] NM_017750 RETSAT EXON Missense_G384S exm206973 2 85573110 [A/G] NM_017750 RETSAT EXON Missense_R369C exm206974 2 85573114 [G/C] NM_017750 RETSAT EXON Missense_N367K exm206978 2 85573188 [T/C] NM_017750 RETSAT EXON Missense_V343M exm2028669 2 85576519 [T/C] NM_017750 RETSAT EXON Missense_G329R exm206983 2 85576579 [A/G] NM_017750 RETSAT EXON Missense_R309W exm206986 2 85576627 [A/G] NM_017750 RETSAT EXON Nonsense_R293X exm2273804 2 85576653 [T/C] NM_017750 RETSAT EXON Missense_H284R exm206988 2 85576669 [T/C] NM_017750 RETSAT EXON Missense_A279T exm206989 2 85576690 [A/G] NM_017750 RETSAT EXON Missense_H272Y exm206990 2 85576696 [C/G] NM_017750 RETSAT EXON Missense_P270A exm207000 2 85577285 [T/C] NM_017750 RETSAT EXON Missense_G226E exm207011 2 85577956 [T/C] NM_017750 RETSAT EXON Missense_E182K exm2273805 2 85577993 [T/C] NM_017750 RETSAT EXON Missense_M169I exm207017 2 85578102 [T/C] NM_017750 RETSAT EXON Missense_R133H exm207029 2 85578987 [T/C] NM_017750 RETSAT Silent exm207030 2 85581461 [T/C] NM_017750 RETSAT EXON Missense_Q57R exm207032 2 85581474 [A/T] NM_017750 RETSAT EXON Nonsense_K53X exm2028687 2 85589319 [A/T] NM_001135021,NM_001135023,NM_032213,NM_001135022 ELMOD3,ELMOD3,ELMOD3,ELMOD3 EXON Nonsense_L22X,Nonsense_L22X,Nonsense_L22X,Nonsense_L22X exm207048 2 85590286 [T/C] NM_001135021,NM_001135023,NM_032213,NM_001135022 ELMOD3,ELMOD3,ELMOD3,ELMOD3 EXON Missense_R66C,Missense_R66C,Missense_R66C,Missense_R66C exm207050 2 85595818 [T/C] NM_001135021,NM_001135023,NM_032213,NM_001135022 ELMOD3,ELMOD3,ELMOD3,ELMOD3 EXON Missense_T70I,Missense_T70I,Missense_T70I,Missense_T70I exm207052 2 85595863 [T/G] NM_001135021,NM_001135023,NM_032213,NM_001135022 ELMOD3,ELMOD3,ELMOD3,ELMOD3 EXON Missense_I85S,Missense_I85S,Missense_I85S,Missense_I85S exm207056 2 85596898 [A/T] NM_001135021,NM_001135023,NM_032213,NM_001135022 ELMOD3,ELMOD3,ELMOD3,ELMOD3 EXON Missense_I102N,Missense_I102N,Missense_I102N,Missense_I102N exm207057 2 85596906 [A/G] NM_001135021,NM_001135023,NM_032213,NM_001135022 ELMOD3,ELMOD3,ELMOD3,ELMOD3 EXON Missense_S105G,Missense_S105G,Missense_S105G,Missense_S105G exm207063 2 85598245 [A/G] NM_001135021,NM_001135023,NM_032213,NM_001135022 ELMOD3,ELMOD3,ELMOD3,ELMOD3 EXON Missense_A133T,Missense_A133T,Missense_A133T,Missense_A133T exm207069 2 85598568 [A/C] NM_001135021,NM_001135023,NM_032213,NM_001135022 ELMOD3,ELMOD3,ELMOD3,ELMOD3 EXON Missense_L164M,Missense_L164M,Missense_L164M,Missense_L164M exm207072 2 85598640 [A/G] NM_001135021,NM_001135023,NM_032213,NM_001135022 ELMOD3,ELMOD3,ELMOD3,ELMOD3 EXON Missense_D188N,Missense_D188N,Missense_D188N,Missense_D188N exm207086 2 85617310 [A/G] NM_001135021,NM_001135023,NM_032213,NM_001135022 ELMOD3,ELMOD3,ELMOD3,ELMOD3 EXON Missense_A289T,Missense_A289T,Missense_A289T,Missense_A289T exm207094 2 85617454 [A/G] NM_001135021,NM_001135023,NM_032213,NM_001135022 ELMOD3,ELMOD3,ELMOD3,ELMOD3 EXON Silent,Silent,Missense_V337M,Silent exm207104 2 85617913 [T/G] NM_001135021,NM_001135023,NM_032213,NM_001135022 ELMOD3,ELMOD3,ELMOD3,ELMOD3 EXON Missense_R325L,Missense_R325L,Silent,Missense_R325L exm207110 2 85622059 [T/C] NM_001256139,NM_001747,NM_001256140 CAPG,CAPG,CAPG EXON Missense_H335R,Missense_H335R,Missense_H320R exm207119 2 85625240 [G/C] NM_001256139,NM_001747,NM_001256140 CAPG,CAPG,CAPG EXON Missense_K265N,Missense_K265N,Missense_K250N exm2238072 2 85625842 [T/C] NM_001256139,NM_001747,NM_001256140 CAPG,CAPG,CAPG EXON Missense_A244T,Missense_A244T,Missense_A229T exm2028723 2 85625887 [T/C] NM_001256139,NM_001747,NM_001256140 CAPG,CAPG,CAPG EXON Missense_A229T,Missense_A229T,Missense_A214T exm2028724 2 85625892 [T/C] NM_001256139,NM_001747,NM_001256140 CAPG,CAPG,CAPG EXON Missense_K227R,Missense_K227R,Missense_K212R exm207137 2 85626327 [T/C] NM_001256139,NM_001747,NM_001256140 CAPG,CAPG,CAPG EXON Missense_S200G,Missense_S200G,Missense_S200G exm207139 2 85626333 [A/G] NM_001256139,NM_001747,NM_001256140 CAPG,CAPG,CAPG EXON Missense_R198W,Missense_R198W,Missense_R198W exm207143 2 85626365 [T/C] NM_001256139,NM_001747,NM_001256140 CAPG,CAPG,CAPG EXON Missense_R187H,Missense_R187H,Missense_R187H exm207164 2 85628983 [T/C] NM_001256139,NM_001747,NM_001256140 CAPG,CAPG,CAPG EXON Missense_V41I,Missense_V41I,Missense_V41I exm207168 2 85629000 [A/G] NM_001256139,NM_001747,NM_001256140 CAPG,CAPG,CAPG EXON Missense_A35V,Missense_A35V,Missense_A35V exm207177 2 85629256 [T/C] NM_001256139,NM_001747,NM_001256140 CAPG,CAPG,CAPG EXON Missense_I5V,Missense_I5V,Missense_I5V exm207178 2 85629266 [T/C] NM_001256139,NM_001747,NM_001256140 CAPG,CAPG,CAPG EXON Missense_M1I,Missense_M1I,Missense_M1I exm207189 2 85662244 [A/G] NM_198482 SH2D6 EXON Missense_E56K exm207195 2 85662800 [A/T] NM_198482 SH2D6 EXON Nonsense_Y88X exm2238074 2 85662825 [G/C] NM_198482 SH2D6 EXON Missense_H97D exm207200 2 85662880 [T/G] NM_198482 SH2D6 EXON Missense_I115S exm207201 2 85662892 [A/G] NM_198482 SH2D6 EXON Missense_R119Q exm207203 2 85662906 [T/C] NM_198482 SH2D6 EXON Missense_R124C exm2028753 2 85662921 [C/G] NM_198482 SH2D6 EXON Missense_G129R exm207209 2 85663661 [A/G] NM_198482 SH2D6 EXON Missense_G162S exm207211 2 85663680 [A/G] NM_198482 SH2D6 EXON Missense_C168Y exm-rs7577642 2 85699750 [T/C] exm207217 2 85766442 [T/C] NM_005911 MAT2A EXON Missense_A11V exm2238075 2 85769391 [T/C] NM_005911 MAT2A EXON Synonymous_A221A exm207243 2 85769711 [G/C] NM_005911 MAT2A EXON Synonymous_R264R exm207263 2 85777080 [C/G] NM_000821,NM_001142269 GGCX,GGCX EXON Missense_D752H,Missense_D695H exm207273 2 85777681 [T/C] NM_000821,NM_001142269 GGCX,GGCX EXON Missense_R694H,Missense_R637H exm207279 2 85777856 [T/G] NM_000821,NM_001142269 GGCX,GGCX EXON Missense_P636T,Missense_P579T exm207280 2 85777861 [A/G] NM_000821,NM_001142269 GGCX,GGCX EXON Missense_L634P,Missense_L577P exm207290 2 85778964 [A/G] NM_000821,NM_001142269 GGCX,GGCX EXON Missense_T527I,Missense_T470I exm207293 2 85779046 [A/C] NM_000821,NM_001142269 GGCX,GGCX EXON Missense_S500A,Missense_S443A exm2028798 2 85779600 [T/C] NM_000821,NM_001142269 GGCX,GGCX EXON Missense_V460I,Missense_V403I exm207303 2 85779623 [G/C] NM_000821,NM_001142269 GGCX,GGCX EXON Missense_S452T,Missense_S395T exm207307 2 85779679 [G/C] NM_000821,NM_001142269 GGCX,GGCX EXON Missense_Q433H,Missense_Q376H exm207327 2 85780536 [T/C] NM_000821,NM_001142269 GGCX,GGCX EXON Missense_R325Q,Missense_R268Q exm207336 2 85781322 [A/G] NM_000821,NM_001142269 GGCX,GGCX EXON Missense_I278T,Missense_I221T exm207352 2 85785573 [T/C] NM_000821,NM_001142269 GGCX,GGCX EXON Missense_N177D,Missense_N120D exm207364 2 85788015 [G/C] NM_000821,NM_001142269 GGCX,GGCX EXON Missense_S46C,Silent exm207366 2 85788061 [T/C] NM_000821,NM_001142269 GGCX,GGCX EXON Missense_D31N,Silent exm207407 2 85808746 [G/C] NM_003761 VAMP8 EXON Missense_W70C exm-rs1561198 2 85809989 [T/C] exm207419 2 85820069 [A/G] NM_006634 VAMP5 Silent exm207420 2 85820070 [T/G] NM_006634 VAMP5 Silent exm207436 2 85823724 [A/T] NM_016494 RNF181 EXON Missense_T57S exm2255524 2 85824039 [A/G] NM_016494 RNF181 EXON Synonymous_L104L exm207447 2 85824251 [T/C] NM_016494 RNF181 EXON Missense_Y118H exm207450 2 85824291 [A/G] NM_016494 RNF181 EXON Missense_R131K exm207455 2 85824592 [T/C] NM_016494 RNF181 EXON Nonsense_R143X exm2028859 2 85826210 [T/C] NM_001031738,NR_033179 TMEM150A,TMEM150A EXON Missense_A269T,Silent exm207496 2 85836126 [T/C] NR_046347,NM_001013649 USP39,C2orf68 EXON Silent,Missense_R148Q exm207504 2 85836668 [T/C] NR_046347,NM_001013649 USP39,C2orf68 EXON Silent,Missense_G90S exm207511 2 85838844 [A/G] NR_046347,NM_001013649 USP39,C2orf68 EXON Silent,Missense_A58V exm207531 2 85843417 [A/T] NR_046347,NM_001256727,NM_001256728,NM_001256725,NM_001256726,NM_006590 USP39,USP39,USP39,USP39,USP39,USP39 EXON Silent,Silent,Silent,Missense_D33E,Missense_D33E,Missense_D33E exm207548 2 85846373 [A/G] NR_046347,NM_001256727,NM_001256728,NM_001256725,NM_001256726,NM_006590 USP39,USP39,USP39,USP39,USP39,USP39 EXON Silent,Missense_R22Q,Missense_R22Q,Missense_R100Q,Missense_R100Q,Missense_R100Q exm207549 2 85848649 [C/G] NR_046347,NM_001256727,NM_001256728,NM_001256725,NM_001256726,NM_006590 USP39,USP39,USP39,USP39,USP39,USP39 EXON Silent,Missense_S49C,Silent,Missense_S127C,Missense_S127C,Missense_S127C exm207572 2 85858064 [A/G] NR_046347,NM_001256727,NM_001256728,NM_001256725,NM_001256726,NM_006590 USP39,USP39,USP39,USP39,USP39,USP39 EXON Silent,Missense_K237R,Missense_K212R,Missense_K315R,Missense_K315R,Missense_K315R exm207578 2 85866329 [T/G] NR_046347,NM_001256727,NM_001256728,NM_001256725,NM_001256726,NM_006590 USP39,USP39,USP39,USP39,USP39,USP39 EXON Silent,Missense_A289S,Missense_A264S,Missense_A367S,Missense_A367S,Missense_A367S exm207589 2 85868133 [A/G] NR_046347,NM_001256727,NM_001256728,NM_001256725,NM_001256726,NM_006590 USP39,USP39,USP39,USP39,USP39,USP39 EXON Silent,Missense_R362H,Missense_R337H,Missense_R440H,Missense_R440H,Missense_R440H exm207612 2 85890543 [T/C] NM_198843,NM_000542 SFTPB,SFTPB EXON Missense_G322R,Missense_G322R exm207614 2 85890602 [T/C] NM_198843,NM_000542 SFTPB,SFTPB EXON Missense_G302E,Missense_G302E exm207623 2 85890828 [T/C] NM_198843,NM_000542 SFTPB,SFTPB EXON Missense_R284H,Missense_R284H exm207635 2 85892473 [A/G] NM_198843,NM_000542 SFTPB,SFTPB EXON Missense_P216L,Missense_P216L exm207648 2 85892782 [T/C] NM_198843,NM_000542 SFTPB,SFTPB EXON Missense_V189I,Missense_V189I exm207650 2 85892785 [A/G] NM_198843,NM_000542 SFTPB,SFTPB EXON Missense_L188F,Missense_L188F exm207654 2 85892908 [T/C] NM_198843,NM_000542 SFTPB,SFTPB EXON Missense_G147S,Missense_G147S exm207656 2 85893741 [A/G] NM_198843,NM_000542 SFTPB,SFTPB EXON Missense_T143I,Missense_T143I exm207660 2 85893781 [T/C] NM_198843,NM_000542 SFTPB,SFTPB EXON Missense_D130N,Missense_D130N exm207665 2 85893861 [A/G] NM_198843,NM_000542 SFTPB,SFTPB EXON Missense_T103M,Missense_T103M exm207677 2 85895338 [T/G] NM_198843,NM_000542 SFTPB,SFTPB EXON Missense_H2P,Missense_H2P exm207681 2 85921546 [T/C] NM_006433,NM_012483 GNLY,GNLY EXON Missense_A2V,Silent exm207682 2 85921549 [T/C] NM_006433,NM_012483 GNLY,GNLY EXON Missense_T3I,Silent exm207683 2 85921552 [A/G] NM_006433,NM_012483 GNLY,GNLY EXON Nonsense_W4X,Silent exm207684 2 85921570 [T/C] NM_006433,NM_012483 GNLY,GNLY EXON Missense_A10V,Silent exm207693 2 85922457 [T/C] NM_006433,NM_012483 GNLY,GNLY EXON Missense_R23C,Missense_R8C exm207700 2 85922506 [A/G] NM_006433,NM_012483 GNLY,GNLY EXON Missense_E39G,Missense_E24G exm207708 2 85923114 [T/C] NM_006433,NM_012483 GNLY,GNLY EXON Missense_R64C,Missense_R49C exm207711 2 85923169 [A/C] NM_006433,NM_012483 GNLY,GNLY EXON Missense_K82T,Missense_K67T exm207713 2 85923181 [T/C] NM_006433,NM_012483 GNLY,GNLY Silent,Silent exm207717 2 85924729 [T/C] NM_006433,NM_012483 GNLY,GNLY EXON Missense_T119I,Missense_T104I exm207737 2 85981389 [T/C] NM_032827 ATOH8 EXON Missense_L26P exm207739 2 85981431 [A/G] NM_032827 ATOH8 EXON Missense_Y40C exm207740 2 85981436 [A/G] NM_032827 ATOH8 EXON Missense_T42A exm207757 2 85981877 [A/G] NM_032827 ATOH8 EXON Missense_E189K exm207776 2 85991279 [A/G] NM_032827 ATOH8 EXON Missense_A312T exm2269292 2 86025331 [T/C] exm207782 2 86067277 [A/C] NM_003896,NM_001042437 ST3GAL5,ST3GAL5 EXON Missense_R416L,Missense_R393L exm2255528 2 86067312 [T/C] NM_003896,NM_001042437 ST3GAL5,ST3GAL5 EXON Synonymous_E404E,Synonymous_E381E exm207784 2 86067312 [T/C] NM_003896,NM_001042437 ST3GAL5,ST3GAL5 EXON Synonymous_E404E,Synonymous_E381E exm207797 2 86071665 [A/G] NM_003896,NM_001042437 ST3GAL5,ST3GAL5 EXON Nonsense_R288X,Nonsense_R265X exm207811 2 86075257 [A/G] NM_003896,NM_001042437 ST3GAL5,ST3GAL5 EXON Missense_A130V,Missense_A107V exm207817 2 86088311 [T/C] NM_003896,NM_001042437 ST3GAL5,ST3GAL5 EXON Missense_H104R,Missense_H81R exm2265168 2 86135154 [A/G] exm207844 2 86255790 [T/C] NM_015425 POLR1A EXON Missense_I1608M exm207860 2 86257515 [C/G] NM_015425 POLR1A EXON Missense_T1528R exm207871 2 86258589 [A/G] NM_015425 POLR1A EXON Missense_T1481M exm207874 2 86258612 [T/G] NM_015425 POLR1A EXON Missense_D1473E exm207875 2 86258619 [T/C] NM_015425 POLR1A EXON Missense_E1471G exm207881 2 86258701 [A/C] NM_015425 POLR1A EXON Missense_D1444Y exm207883 2 86258721 [T/C] NM_015425 POLR1A EXON Missense_G1437D exm207890 2 86260785 [T/C] NM_015425 POLR1A EXON Missense_R1387Q exm207917 2 86269058 [A/C] NM_015425 POLR1A EXON Missense_A1176S exm207920 2 86269163 [T/C] NM_015425 POLR1A EXON Missense_A1141T exm207922 2 86269166 [T/C] NM_015425 POLR1A EXON Missense_A1140T exm207945 2 86272426 [T/G] NM_015425 POLR1A EXON Missense_T982P exm207957 2 86276076 [G/C] NM_015425 POLR1A EXON Missense_Q855H exm207964 2 86276315 [T/C] NM_015425 POLR1A EXON Missense_I815V exm207973 2 86280078 [A/C] NM_015425 POLR1A EXON Missense_A752S exm207976 2 86281301 [T/C] NM_015425 POLR1A EXON Missense_V724I exm207982 2 86292416 [A/G] NM_015425 POLR1A EXON Missense_P680L exm207984 2 86292438 [G/C] NM_015425 POLR1A EXON Missense_P673A exm207985 2 86292453 [T/C] NM_015425 POLR1A EXON Missense_V668M exm207989 2 86292464 [T/C] NM_015425 POLR1A EXON Missense_K664R exm208013 2 86302260 [T/C] NM_015425 POLR1A EXON Missense_G502S exm208025 2 86305307 [T/C] NM_015425 POLR1A EXON Missense_S396N exm208026 2 86305397 [A/G] NM_015425 POLR1A EXON Missense_S366F exm208027 2 86305404 [T/C] NM_015425 POLR1A EXON Missense_K364E exm208030 2 86307994 [A/G] NM_015425 POLR1A EXON Missense_L344S exm208034 2 86308769 [T/C] NM_015425 POLR1A EXON Missense_N293S exm208038 2 86310229 [C/G] NM_015425 POLR1A EXON Missense_L265V exm208053 2 86317012 [G/C] NM_015425 POLR1A EXON Missense_R158P exm208055 2 86317037 [G/C] NM_015425 POLR1A EXON Missense_P150A exm208079 2 86333420 [C/G] NM_017952 PTCD3 EXON Missense_G17A exm208083 2 86335496 [T/C] NM_017952 PTCD3 EXON Missense_L43P exm-rs1075622 2 86337930 [T/C] NM_017952 PTCD3 Silent exm208094 2 86338249 [A/G] NM_017952 PTCD3 EXON Missense_V70I exm208102 2 86343701 [T/C] NM_017952 PTCD3 EXON Missense_P97S exm208105 2 86344179 [A/G] NM_017952 PTCD3 EXON Missense_R104H exm208111 2 86344281 [T/C] NM_017952 PTCD3 EXON Missense_P138L exm208113 2 86346095 [A/G] NM_017952 PTCD3 EXON Missense_A156T exm208115 2 86346119 [A/G] NM_017952 PTCD3 EXON Missense_R164G exm2238092 2 86348652 [T/C] NM_017952 PTCD3 EXON Missense_Y197H exm208126 2 86348703 [T/C] NM_017952 PTCD3 EXON Nonsense_Q214X exm208132 2 86350837 [A/G] NM_017952 PTCD3 EXON Missense_D223G exm2255531 2 86354385 [A/G] NM_017952 PTCD3 EXON Synonymous_S351S exm208154 2 86357774 [A/G] NM_017952 PTCD3 EXON Missense_D384G exm208155 2 86357806 [A/G] NM_017952 PTCD3 EXON Missense_D395N exm208156 2 86357807 [T/A] NM_017952 PTCD3 EXON Missense_D395V exm208174 2 86359517 [T/C] NM_017952 PTCD3 EXON Missense_I448T exm208176 2 86359544 [A/G] NM_017952 PTCD3 EXON Missense_Y457C exm208183 2 86360530 [A/G] NM_017952 PTCD3 EXON Missense_R505Q exm208201 2 86364202 [C/G] NM_017952 PTCD3 EXON Missense_P640A exm208204 2 86364629 [A/C] NM_017952 PTCD3 EXON Missense_S673R exm208205 2 86364653 [A/G] NM_017952 PTCD3 EXON Missense_S681G exm208215 2 86371426 [T/C] NM_001100170,NM_001100169,NM_006839 IMMT,IMMT,IMMT EXON Missense_V737I,Missense_V747I,Missense_V748I exm208235 2 86371828 [T/C] NM_001100170,NM_001100169,NM_006839 IMMT,IMMT,IMMT EXON Missense_A603T,Missense_A613T,Missense_A614T exm208248 2 86374842 [T/C] NM_001100170,NM_001100169,NM_006839 IMMT,IMMT,IMMT EXON Missense_K495E,Missense_K505E,Missense_K506E exm208253 2 86378518 [T/C] NM_001100170,NM_001100169,NM_006839 IMMT,IMMT,IMMT EXON Missense_E424K,Missense_E434K,Missense_E435K exm208258 2 86380697 [T/C] NM_001100170,NM_001100169,NM_006839 IMMT,IMMT,IMMT EXON Missense_S377N,Missense_S387N,Missense_S388N exm208270 2 86389099 [T/C] NM_001100170,NM_001100169,NM_006839 IMMT,IMMT,IMMT EXON Missense_K288R,Missense_K298R,Missense_K299R exm208271 2 86389114 [A/G] NM_001100170,NM_001100169,NM_006839 IMMT,IMMT,IMMT EXON Missense_A283V,Missense_A293V,Missense_A294V exm208274 2 86389144 [T/C] NM_001100170,NM_001100169,NM_006839 IMMT,IMMT,IMMT EXON Missense_R273H,Missense_R283H,Missense_R284H exm208294 2 86400791 [T/C] NM_001100170,NM_001100169,NM_006839 IMMT,IMMT,IMMT EXON Missense_T135A,Missense_T135A,Missense_T135A exm208313 2 86426629 [T/G] NM_016622,NM_145644 MRPL35,MRPL35 EXON Missense_F6V,Missense_F6V exm208321 2 86433240 [T/C] NM_016622,NM_145644 MRPL35,MRPL35 EXON Missense_P19S,Missense_P19S exm208324 2 86433271 [A/G] NM_016622,NM_145644 MRPL35,MRPL35 EXON Missense_R29H,Missense_R29H exm208332 2 86433396 [G/C] NM_016622,NM_145644 MRPL35,MRPL35 EXON Missense_H71D,Missense_H71D exm208335 2 86434316 [A/G] NM_016622,NM_145644 MRPL35,MRPL35 EXON Missense_V82M,Missense_V82M exm208338 2 86434415 [T/C] NM_016622,NM_145644 MRPL35,MRPL35 EXON Missense_L115F,Missense_L115F exm208342 2 86437730 [A/G] NM_016622,NM_145644 MRPL35,MRPL35 EXON Missense_R169Q,Missense_R169Q exm208349 2 86439550 [T/C] NM_016622,NM_145644 MRPL35,MRPL35 EXON Silent,Missense_R172W exm208358 2 86444211 [A/G] NM_001164730,NM_001164731,NM_022912,NM_001164732 REEP1,REEP1,REEP1,REEP1 EXON Silent,Silent,Silent,Missense_S128F exm208362 2 86459749 [T/C] NM_001164730,NM_001164731,NM_022912,NM_001164732 REEP1,REEP1,REEP1,REEP1 EXON Synonymous_S205S,Synonymous_S171S,Synonymous_S198S,Missense_Q120R exm208363 2 86459814 [A/G] NM_001164730,NM_001164731,NM_022912,NM_001164732 REEP1,REEP1,REEP1,REEP1 EXON Missense_R184W,Missense_R150W,Missense_R177W,Synonymous_G98G exm208365 2 86459857 [A/G] NM_001164730,NM_001164731,NM_022912,NM_001164732 REEP1,REEP1,REEP1,REEP1 EXON Synonymous_D169D,Synonymous_D135D,Synonymous_D162D,Missense_T84M exm208401 2 86676932 [T/G] NM_018433,NM_001146688 KDM3A,KDM3A EXON Synonymous_V63V,Synonymous_V63V exm2029168 2 86677018 [A/G] NM_018433,NM_001146688 KDM3A,KDM3A EXON Missense_H92R,Missense_H92R exm208406 2 86678235 [T/C] NM_018433,NM_001146688 KDM3A,KDM3A EXON Missense_P118S,Missense_P118S exm208415 2 86683566 [T/G] NM_018433,NM_001146688 KDM3A,KDM3A EXON Synonymous_G186G,Synonymous_G186G exm208416 2 86683569 [A/C] NM_018433,NM_001146688 KDM3A,KDM3A EXON Missense_D187E,Missense_D187E exm208418 2 86683642 [A/G] NM_018433,NM_001146688 KDM3A,KDM3A EXON Missense_I212V,Missense_I212V exm208441 2 86693572 [A/G] NM_018433,NM_001146688 KDM3A,KDM3A EXON Missense_D362G,Missense_D362G exm208445 2 86693737 [T/G] NM_018433,NM_001146688 KDM3A,KDM3A EXON Missense_C417F,Missense_C417F exm208451 2 86693826 [T/C] NM_018433,NM_001146688 KDM3A,KDM3A EXON Missense_S447P,Missense_S447P exm208456 2 86693974 [A/G] NM_018433,NM_001146688 KDM3A,KDM3A EXON Missense_C496Y,Missense_C496Y exm208457 2 86693992 [A/G] NM_018433,NM_001146688 KDM3A,KDM3A EXON Missense_N502S,Missense_N502S exm208468 2 86697465 [T/G] NM_018433,NM_001146688 KDM3A,KDM3A EXON Missense_S553I,Missense_S553I exm208491 2 86707449 [A/G] NM_018433,NM_001146688 KDM3A,KDM3A EXON Missense_D826N,Missense_D826N exm208497 2 86709067 [A/G] NM_018433,NM_001146688 KDM3A,KDM3A EXON Missense_M843V,Missense_M843V exm208500 2 86709196 [T/C] NM_018433,NM_001146688 KDM3A,KDM3A EXON Missense_R886W,Missense_R886W exm208501 2 86709215 [C/G] NM_018433,NM_001146688 KDM3A,KDM3A EXON Missense_S892C,Missense_S892C exm208533 2 86716518 [A/G] NM_018433,NM_001146688 KDM3A,KDM3A EXON Missense_V1131I,Missense_V1131I exm208553 2 86718276 [T/C] NM_018433,NM_001146688 KDM3A,KDM3A EXON Missense_Y1255H,Missense_Y1255H exm208570 2 86734669 [T/G] NR_036454,NM_016079,NM_001198954,NM_001005753,NM_001193517 CHMP3,CHMP3,RNF103-CHMP3,CHMP3,CHMP3 EXON Silent,Missense_D152E,Missense_D181E,Missense_D86E,Missense_D112E exm208578 2 86756342 [A/G] NR_036454,NM_016079,NM_001198954,NM_001005753,NM_001193517 CHMP3,CHMP3,RNF103-CHMP3,CHMP3,CHMP3 EXON Silent,Synonymous_L95L,Synonymous_L124L,Synonymous_L29L,Silent exm208579 2 86756365 [A/G] NR_036454,NM_016079,NM_001198954,NM_001005753,NM_001193517 CHMP3,CHMP3,RNF103-CHMP3,CHMP3,CHMP3 EXON Silent,Missense_L88F,Missense_L117F,Missense_L22F,Silent exm208585 2 86769377 [T/C] NR_036454,NM_016079,NM_001198954,NM_001005753,NM_001193517 CHMP3,CHMP3,RNF103-CHMP3,CHMP3,CHMP3 EXON Silent,Missense_R35K,Missense_R64K,Silent,Missense_R35K exm2238101 2 86769412 [T/C] NR_036454,NM_016079,NM_001198954,NM_001005753,NM_001193517 CHMP3,CHMP3,RNF103-CHMP3,CHMP3,CHMP3 EXON Silent,Missense_I23M,Missense_I52M,Silent,Missense_I23M exm208594 2 86831051 [A/C] NM_001198954,NM_001198951,NM_005667 RNF103-CHMP3,RNF103,RNF103 EXON Silent,Missense_C654F,Missense_C658F exm208610 2 86831408 [G/C] NM_001198954,NM_001198951,NM_005667 RNF103-CHMP3,RNF103,RNF103 EXON Silent,Missense_S535W,Missense_S539W exm208611 2 86831420 [A/G] NM_001198954,NM_001198951,NM_005667 RNF103-CHMP3,RNF103,RNF103 EXON Silent,Missense_T531I,Missense_T535I exm208612 2 86831455 [A/C] NM_001198954,NM_001198951,NM_005667 RNF103-CHMP3,RNF103,RNF103 EXON Silent,Missense_Q519H,Missense_Q523H exm208621 2 86831675 [T/C] NM_001198954,NM_001198951,NM_005667 RNF103-CHMP3,RNF103,RNF103 EXON Silent,Missense_N446S,Missense_N450S exm208626 2 86831751 [C/G] NM_001198954,NM_001198951,NM_005667 RNF103-CHMP3,RNF103,RNF103 EXON Silent,Missense_L421V,Missense_L425V exm208632 2 86832103 [T/C] NM_001198954,NM_001198951,NM_005667 RNF103-CHMP3,RNF103,RNF103 EXON Silent,Missense_I303M,Missense_I307M exm208635 2 86832132 [T/C] NM_001198954,NM_001198951,NM_005667 RNF103-CHMP3,RNF103,RNF103 EXON Silent,Missense_R294G,Missense_R298G exm2029250 2 86832214 [T/A] NM_001198954,NM_001198951,NM_005667 RNF103-CHMP3,RNF103,RNF103 EXON Silent,Missense_N266K,Missense_N270K exm208644 2 86832377 [T/G] NM_001198954,NM_001198951,NM_005667 RNF103-CHMP3,RNF103,RNF103 EXON Silent,Missense_T212N,Missense_T216N exm208651 2 86839364 [T/C] NM_001198954,NM_001198951,NM_005667 RNF103-CHMP3,RNF103,RNF103 EXON Silent,Missense_K130E,Missense_K134E exm208652 2 86839367 [G/C] NM_001198954,NM_001198951,NM_005667 RNF103-CHMP3,RNF103,RNF103 EXON Silent,Missense_G129R,Missense_G133R exm208658 2 86847547 [T/G] NM_001198954,NM_001198951,NM_005667,NM_001198952 RNF103-CHMP3,RNF103,RNF103,RNF103 EXON Missense_E13A,Missense_E87A,Missense_E91A,Missense_E91A exm208693 2 86980636 [A/G] NM_022780 RMND5A EXON Missense_R159K exm208711 2 87013064 [T/G] NR_027353,NM_171827,NM_001768,NM_001145873 CD8A,CD8A,CD8A,CD8A EXON Silent,Missense_S192R,Missense_S229R,Missense_S229R exm208717 2 87015653 [A/C] NR_027353,NM_171827,NM_001768,NM_001145873 CD8A,CD8A,CD8A,CD8A EXON Silent,Missense_R182L,Missense_R219L,Missense_R219L exm208726 2 87016872 [T/C] NR_027353,NM_171827,NM_001768,NM_001145873 CD8A,CD8A,CD8A,CD8A EXON Silent,Synonymous_A135A,Synonymous_A135A,Synonymous_A135A exm208737 2 87017556 [A/G] NR_027353,NM_171827,NM_001768,NM_001145873 CD8A,CD8A,CD8A,CD8A EXON Silent,Missense_L100F,Missense_L100F,Missense_L100F exm208746 2 87017699 [T/G] NR_027353,NM_171827,NM_001768,NM_001145873 CD8A,CD8A,CD8A,CD8A EXON Silent,Nonsense_S52X,Nonsense_S52X,Nonsense_S52X exm208753 2 87017903 [A/G] NR_027353,NM_171827,NM_001768,NM_001145873 CD8A,CD8A,CD8A,CD8A EXON Silent,Missense_L16F,Missense_L16F,Missense_L16F exm208760 2 87042751 [A/G] NM_172101,NM_172102,NM_172213,NM_001178100 CD8B,CD8B,CD8B,CD8B EXON Silent,Synonymous_N207N,Synonymous_N237N,Missense_T195I exm208764 2 87042825 [T/C] NM_172101,NM_172102,NM_172213,NM_001178100 CD8B,CD8B,CD8B,CD8B EXON Silent,Missense_I183V,Missense_I213V,Synonymous_V170V exm2269293 2 87043069 [T/C] NM_172101,NM_172102,NM_172213,NM_001178100 CD8B,CD8B,CD8B,CD8B Silent,Silent,Silent,Silent exm-rs6547705 2 87044316 [A/G] NM_172101,NM_172102,NM_172213,NM_001178100 CD8B,CD8B,CD8B,CD8B Silent,Silent,Silent,Silent exm2029292 2 87049443 [T/C] NM_172101,NM_172102,NM_172213,NM_001178100 CD8B,CD8B,CD8B,CD8B Silent,Silent,Silent,Silent exm208775 2 87072073 [T/C] NM_172101,NM_172102,NM_172213,NM_001178100,NM_004931 CD8B,CD8B,CD8B,CD8B,CD8B EXON Missense_R198G,Missense_R168G,Missense_R198G,Silent,Missense_R198G exm208795 2 87085401 [A/G] NM_172101,NM_172102,NM_172213,NM_001178100,NM_004931 CD8B,CD8B,CD8B,CD8B,CD8B EXON Missense_P61L,Missense_P61L,Missense_P61L,Missense_P61L,Missense_P61L exm2269097 2 87405001 [T/C] exm2265170 2 87965359 [A/G] exm208892 2 88327431 [T/G] NM_016618 KRCC1 EXON Missense_K218Q exm208893 2 88327464 [T/C] NM_016618 KRCC1 EXON Missense_V207I exm208895 2 88327491 [T/G] NM_016618 KRCC1 EXON Missense_K198Q exm208897 2 88327530 [T/C] NM_016618 KRCC1 EXON Missense_E185K exm208908 2 88327701 [T/C] NM_016618 KRCC1 EXON Missense_G128S exm208909 2 88327713 [T/C] NM_016618 KRCC1 EXON Missense_E124K exm208916 2 88327833 [A/G] NM_016618 KRCC1 EXON Missense_R84W exm208923 2 88327919 [A/G] NM_016618 KRCC1 EXON Missense_T55M exm208925 2 88327946 [T/A] NM_016618 KRCC1 EXON Missense_Y46F exm208931 2 88367478 [T/C] NM_198274 SMYD1 EXON Missense_I32T exm2238111 2 88383944 [T/C] NM_198274 SMYD1 EXON Missense_W83R exm208943 2 88383996 [A/C] NM_198274 SMYD1 EXON Missense_P100H exm2238112 2 88387389 [T/C] NM_198274 SMYD1 EXON Missense_A108V exm208947 2 88387404 [A/G] NM_198274 SMYD1 EXON Missense_R113Q exm208952 2 88387509 [T/G] NM_198274 SMYD1 EXON Missense_R148L exm2029327 2 88387517 [A/G] NM_198274 SMYD1 EXON Missense_V151M exm208956 2 88387557 [A/C] NM_198274 SMYD1 EXON Missense_Q164P exm208977 2 88396125 [A/G] NM_198274 SMYD1 EXON Missense_R237Q exm208992 2 88402585 [T/G] NM_198274 SMYD1 EXON Missense_Q299H exm208997 2 88405860 [A/G] NM_198274 SMYD1 EXON Missense_R333Q exm208998 2 88405871 [A/G] NM_198274 SMYD1 EXON Missense_E337K exm208999 2 88405904 [A/G] NM_198274 SMYD1 EXON Missense_I348V exm209005 2 88405978 [G/C] NM_198274 SMYD1 EXON Missense_F372L exm209009 2 88407924 [A/C] NM_198274 SMYD1 EXON Missense_M394L exm209012 2 88407936 [T/C] NM_198274 SMYD1 EXON Missense_R398W exm209013 2 88407937 [A/G] NM_198274 SMYD1 EXON Missense_R398Q exm209015 2 88407960 [T/G] NM_198274 SMYD1 EXON Missense_A406S exm209017 2 88407997 [A/G] NM_198274 SMYD1 EXON Missense_K418R exm209023 2 88409879 [T/C] NM_198274 SMYD1 EXON Missense_R441W exm209030 2 88409984 [A/G] NM_198274 SMYD1 EXON Missense_E476K exm2265171 2 88417387 [A/G] exm209041 2 88424066 [T/C] NM_001443 FABP1 EXON Missense_T94A exm209042 2 88425751 [T/C] NM_001443 FABP1 EXON Missense_E62K exm209046 2 88425811 [T/C] NM_001443 FABP1 EXON Missense_V42M exm209050 2 88427471 [A/G] NM_001443 FABP1 EXON Synonymous_I22I exm209061 2 88472737 [A/G] NM_001244678,NM_001244676,NM_018271 THNSL2,THNSL2,THNSL2 EXON Silent,Missense_Y23C,Missense_Y23C exm209065 2 88472791 [A/G] NM_001244678,NM_001244676,NM_018271 THNSL2,THNSL2,THNSL2 EXON Silent,Missense_G41E,Missense_G41E exm209074 2 88474166 [A/G] NM_001244678,NM_001244676,NM_018271 THNSL2,THNSL2,THNSL2 EXON Silent,Missense_D78N,Missense_D78N exm209076 2 88474173 [G/C] NM_001244678,NM_001244676,NM_018271 THNSL2,THNSL2,THNSL2 EXON Silent,Missense_A80G,Missense_A80G exm209078 2 88474214 [A/G] NM_001244678,NM_001244676,NM_018271 THNSL2,THNSL2,THNSL2 EXON Silent,Missense_R94G,Missense_R94G exm209079 2 88474256 [A/G] NM_001244678,NM_001244676,NM_018271 THNSL2,THNSL2,THNSL2 EXON Silent,Missense_V108I,Missense_V108I exm209080 2 88474273 [T/G] NM_001244678,NM_001244676,NM_018271 THNSL2,THNSL2,THNSL2 EXON Silent,Missense_K113N,Missense_K113N exm209081 2 88474295 [A/G] NM_001244678,NM_001244676,NM_018271 THNSL2,THNSL2,THNSL2 EXON Silent,Missense_T121A,Missense_T121A exm209083 2 88474337 [A/G] NM_001244678,NM_001244676,NM_018271 THNSL2,THNSL2,THNSL2 EXON Silent,Missense_V135I,Missense_V135I exm209089 2 88474872 [T/G] NM_001244678,NM_001244676,NM_018271 THNSL2,THNSL2,THNSL2 EXON Nonsense_E17X,Nonsense_E175X,Nonsense_E175X exm209098 2 88478341 [A/C] NM_001244678,NM_001244676,NM_018271 THNSL2,THNSL2,THNSL2 EXON Missense_T46N,Missense_T204N,Missense_T204N exm209101 2 88478458 [T/C] NM_001244678,NM_001244676,NM_018271 THNSL2,THNSL2,THNSL2 EXON Missense_T85M,Missense_T243M,Missense_T243M exm209105 2 88478520 [A/G] NM_001244678,NM_001244676,NM_018271 THNSL2,THNSL2,THNSL2 EXON Missense_G106S,Missense_G264S,Missense_G264S exm209106 2 88478534 [T/C] NM_001244678,NM_001244676,NM_018271 THNSL2,THNSL2,THNSL2 Silent,Silent,Silent exm209111 2 88482262 [A/G] NM_001244678,NM_001244676,NM_018271 THNSL2,THNSL2,THNSL2 EXON Missense_V125M,Missense_V283M,Missense_V283M exm209114 2 88482473 [T/C] NM_001244678,NM_001244676,NM_018271 THNSL2,THNSL2,THNSL2 EXON Missense_Y162H,Missense_Y320H,Missense_Y320H exm2029362 2 88482486 [T/G] NM_001244678,NM_001244676,NM_018271 THNSL2,THNSL2,THNSL2 EXON Missense_R166M,Missense_R324M,Missense_R324M exm209124 2 88484958 [A/G] NM_001244678,NM_001244676,NM_018271 THNSL2,THNSL2,THNSL2 EXON Silent,Silent,Missense_V397M exm209133 2 88485439 [T/C] NM_001244678,NM_001244676,NM_018271 THNSL2,THNSL2,THNSL2 EXON Missense_P209L,Silent,Missense_P418S exm2029373 2 88485535 [T/C] NM_001244678,NM_001244676,NM_018271 THNSL2,THNSL2,THNSL2 EXON Silent,Silent,Missense_R450C exm209139 2 88485551 [A/G] NM_001244678,NM_001244676,NM_018271 THNSL2,THNSL2,THNSL2 EXON Silent,Silent,Missense_R455Q exm209142 2 88485632 [T/C] NM_001244678,NM_001244676,NM_018271 THNSL2,THNSL2,THNSL2 EXON Silent,Silent,Missense_T482I exm-rs17435433 2 88509616 [T/C] exm2238117 2 88747766 [A/C] NM_001135649 FOXI3 EXON Missense_X408G exm209146 2 88747963 [A/G] NM_001135649 FOXI3 EXON Missense_S342F exm209147 2 88747972 [A/G] NM_001135649 FOXI3 EXON Missense_T339I exm209160 2 88825941 [A/G] NM_152670 TEX37 EXON Missense_I16V exm209165 2 88825965 [A/G] NM_152670 TEX37 EXON Missense_D24N exm209169 2 88826005 [T/C] NM_152670 TEX37 EXON Missense_T37M exm209176 2 88828696 [T/C] NM_152670 TEX37 EXON Missense_L83F exm209181 2 88828733 [T/C] NM_152670 TEX37 EXON Missense_T95M exm2238122 2 88828744 [A/G] NM_152670 TEX37 EXON Missense_E99K exm2255541 2 88828791 [T/C] NM_152670 TEX37 EXON Synonymous_H114H exm209186 2 88828791 [T/C] NM_152670 TEX37 EXON Synonymous_H114H exm209190 2 88828847 [T/C] NM_152670 TEX37 EXON Missense_P133L exm209193 2 88828925 [T/C] NM_152670 TEX37 EXON Missense_L159P exm209195 2 88828961 [A/G] NM_152670 TEX37 EXON Missense_R171Q exm2261327 2 88837444 [T/C] exm209198 2 88857275 [T/A] NM_004836 EIF2AK3 EXON Missense_H1110Q exm2255542 2 88857452 [A/G] NM_004836 EIF2AK3 EXON Synonymous_Y1051Y exm2273807 2 88874764 [A/G] NM_004836 EIF2AK3 EXON Missense_M746T exm209227 2 88874891 [A/C] NM_004836 EIF2AK3 EXON Missense_A704S exm209229 2 88876094 [T/C] NM_004836 EIF2AK3 EXON Missense_E672K exm209245 2 88882955 [T/A] NM_004836 EIF2AK3 EXON Missense_I586L exm209246 2 88882960 [T/C] NM_004836 EIF2AK3 EXON Missense_G584E exm209249 2 88883014 [A/T] NM_004836 EIF2AK3 EXON Missense_D566V exm209250 2 88885505 [T/C] NM_004836 EIF2AK3 EXON Missense_D502N exm209260 2 88888321 [T/C] NM_004836 EIF2AK3 EXON Missense_A422T exm209268 2 88890410 [A/T] NM_004836 EIF2AK3 EXON Missense_I310L exm209274 2 88892838 [T/C] NM_004836 EIF2AK3 EXON Missense_R240H exm209280 2 88895064 [A/G] NM_004836 EIF2AK3 EXON Missense_Y186H exm209282 2 88895123 [T/C] NM_004836 EIF2AK3 EXON Missense_Q166R exm-rs7571971 2 88895351 [T/C] NM_004836 EIF2AK3 Silent exm209289 2 88913273 [G/C] NM_004836 EIF2AK3 EXON Missense_S136C exm209290 2 88913286 [T/C] NM_004836 EIF2AK3 EXON Missense_V132M exm2269098 2 89130009 [T/G] exm2269101 2 91776211 [T/C] exm2269297 2 92027973 [T/C] exm211431 2 95537418 [A/G] NR_037597,NM_144705 LOC442028,TEKT4 EXON Silent,Missense_A32T exm211448 2 95537544 [A/G] NR_037597,NM_144705 LOC442028,TEKT4 EXON Silent,Missense_T74A exm211475 2 95537710 [T/C] NR_037597,NM_144705 LOC442028,TEKT4 EXON Silent,Missense_A129V exm211479 2 95537759 [C/G] NR_037597,NM_144705 LOC442028,TEKT4 EXON Silent,Missense_Q145H exm211483 2 95537770 [A/G] NR_037597,NM_144705 LOC442028,TEKT4 EXON Silent,Missense_R149H exm211488 2 95537809 [T/C] NR_037597,NM_144705 LOC442028,TEKT4 EXON Silent,Missense_T162M exm211495 2 95539308 [A/C] NR_037597,NM_144705 LOC442028,TEKT4 EXON Silent,Missense_T181N exm211521 2 95540522 [A/G] NR_037597,NM_144705 LOC442028,TEKT4 EXON Silent,Missense_A239T exm2238139 2 95541357 [A/G] NR_037597,NM_144705 LOC442028,TEKT4 EXON Silent,Missense_E321K exm211564 2 95541366 [A/G] NR_037597,NM_144705 LOC442028,TEKT4 EXON Silent,Missense_V324M exm211566 2 95541372 [A/G] NR_037597,NM_144705 LOC442028,TEKT4 EXON Silent,Missense_A326T exm2238140 2 95541381 [T/C] NR_037597,NM_144705 LOC442028,TEKT4 EXON Silent,Nonsense_Q329X exm211588 2 95542327 [T/C] NR_037597,NM_144705 LOC442028,TEKT4 EXON Silent,Missense_M374T exm211591 2 95542345 [A/G] NR_037597,NM_144705 LOC442028,TEKT4 EXON Silent,Missense_R380Q exm211594 2 95542359 [C/G] NR_037597,NM_144705 LOC442028,TEKT4 EXON Silent,Missense_E385Q exm211598 2 95542377 [T/C] NR_037597,NM_144705 LOC442028,TEKT4 EXON Silent,Missense_R391C exm211601 2 95542413 [A/G] NR_037597,NM_144705 LOC442028,TEKT4 EXON Silent,Missense_D403N exm211603 2 95542417 [T/C] NR_037597,NM_144705 LOC442028,TEKT4 EXON Silent,Missense_I404T exm211605 2 95542419 [A/G] NR_037597,NM_144705 LOC442028,TEKT4 EXON Silent,Missense_A405T exm2261334 2 95680267 [A/G] exm211621 2 95691596 [T/C] NM_022438,NM_002371,NM_022439,NM_022440 MAL,MAL,MAL,MAL EXON Missense_T20I,Missense_T20I,Missense_T20I,Missense_T20I exm211629 2 95713807 [C/G] NM_022438,NM_002371,NM_022439,NM_022440 MAL,MAL,MAL,MAL EXON Missense_T66S,Missense_T66S,Silent,Silent exm211631 2 95713823 [C/G] NM_022438,NM_002371,NM_022439,NM_022440 MAL,MAL,MAL,MAL EXON Missense_I71M,Missense_I71M,Silent,Silent exm211636 2 95715335 [T/C] NM_022438,NM_002371,NM_022439,NM_022440 MAL,MAL,MAL,MAL EXON Silent,Missense_Y91H,Missense_Y35H,Silent exm211642 2 95719126 [A/G] NM_022438,NM_002371,NM_022439,NM_022440 MAL,MAL,MAL,MAL EXON Missense_V88M,Missense_V130M,Missense_V74M,Missense_V32M exm211653 2 95753139 [T/C] NM_031902 MRPS5 EXON Missense_R419H exm2030075 2 95753194 [T/C] NM_031902 MRPS5 EXON Missense_V401I exm211656 2 95753239 [A/G] NM_031902 MRPS5 EXON Missense_S386P exm211659 2 95753308 [T/C] NM_031902 MRPS5 EXON Missense_A363T exm211661 2 95756147 [T/C] NM_031902 MRPS5 EXON Missense_R351H exm211665 2 95756256 [A/G] NM_031902 MRPS5 EXON Missense_R315C exm211672 2 95766599 [T/C] NM_031902 MRPS5 EXON Missense_R284Q exm211678 2 95767441 [T/C] NM_031902 MRPS5 EXON Missense_R264Q exm211692 2 95774043 [T/C] NM_031902 MRPS5 EXON Missense_M172V exm211698 2 95774151 [A/G] NM_031902 MRPS5 EXON Missense_R136C exm211712 2 95780861 [G/C] NM_031902 MRPS5 EXON Missense_P76R exm211714 2 95780894 [T/C] NM_031902 MRPS5 EXON Missense_R65H exm211715 2 95780895 [A/G] NM_031902 MRPS5 EXON Missense_R65C exm211718 2 95780948 [T/C] NM_031902 MRPS5 EXON Missense_G47D exm211721 2 95783666 [A/G] NM_031902 MRPS5 EXON Missense_S28F exm211736 2 95815189 [A/C] NM_032788 ZNF514 EXON Missense_N347K exm211737 2 95815229 [T/C] NM_032788 ZNF514 EXON Missense_H334R exm211738 2 95815233 [T/C] NM_032788 ZNF514 EXON Missense_V333M exm211750 2 95815347 [A/G] NM_032788 ZNF514 EXON Nonsense_R295X exm211756 2 95815514 [A/C] NM_032788 ZNF514 EXON Missense_R239I exm211758 2 95815560 [A/G] NM_032788 ZNF514 EXON Nonsense_R224X exm211760 2 95815569 [A/G] NM_032788 ZNF514 EXON Missense_R221C exm211765 2 95815733 [A/G] NM_032788 ZNF514 EXON Missense_L166P exm211771 2 95815878 [T/C] NM_032788 ZNF514 EXON Missense_G118S exm211783 2 95818466 [A/C] NM_032788 ZNF514 EXON Missense_G57V exm211785 2 95818506 [T/C] NM_032788 ZNF514 EXON Missense_V44I exm211788 2 95818909 [T/C] NM_032788 ZNF514 EXON Missense_M30I exm2255551 2 95822447 [A/G] NM_032788 ZNF514 Silent exm211801 2 95845905 [A/C] NM_021088,NM_001017396 ZNF2,ZNF2 EXON Synonymous_G54G,Synonymous_G12G exm211803 2 95845930 [A/G] NM_021088,NM_001017396 ZNF2,ZNF2 EXON Missense_I63V,Missense_I21V exm211807 2 95845965 [A/G] NM_021088,NM_001017396 ZNF2,ZNF2 EXON Missense_M74I,Missense_M32I exm211808 2 95845973 [T/A] NM_021088,NM_001017396 ZNF2,ZNF2 EXON Missense_L77H,Missense_L35H exm211841 2 95847553 [T/C] NM_021088,NM_001017396 ZNF2,ZNF2 EXON Missense_S327L,Missense_S285L exm211849 2 95847674 [A/C] NM_021088,NM_001017396 ZNF2,ZNF2 EXON Missense_D367E,Missense_D325E exm211861 2 95940475 [T/C] NM_144707,NM_001165978,NM_001165977 PROM2,PROM2,PROM2 EXON Missense_R48W,Missense_R48W,Missense_R48W exm211862 2 95940497 [A/G] NM_144707,NM_001165978,NM_001165977 PROM2,PROM2,PROM2 EXON Missense_R55H,Missense_R55H,Missense_R55H exm211872 2 95941685 [T/G] NM_144707,NM_001165978,NM_001165977 PROM2,PROM2,PROM2 EXON Missense_R101L,Missense_R101L,Missense_R101L exm211875 2 95941702 [A/G] NM_144707,NM_001165978,NM_001165977 PROM2,PROM2,PROM2 EXON Missense_V107M,Missense_V107M,Missense_V107M exm211876 2 95941721 [T/C] NM_144707,NM_001165978,NM_001165977 PROM2,PROM2,PROM2 EXON Missense_A113V,Missense_A113V,Missense_A113V exm211884 2 95941808 [T/C] NM_144707,NM_001165978,NM_001165977 PROM2,PROM2,PROM2 EXON Missense_T142I,Missense_T142I,Missense_T142I exm211885 2 95941820 [T/C] NM_144707,NM_001165978,NM_001165977 PROM2,PROM2,PROM2 EXON Missense_A146V,Missense_A146V,Missense_A146V exm211887 2 95941838 [T/C] NM_144707,NM_001165978,NM_001165977 PROM2,PROM2,PROM2 EXON Missense_A152V,Missense_A152V,Missense_A152V exm211892 2 95942010 [A/G] NM_144707,NM_001165978,NM_001165977 PROM2,PROM2,PROM2 EXON Missense_R178H,Missense_R178H,Missense_R178H exm211896 2 95942039 [A/G] NM_144707,NM_001165978,NM_001165977 PROM2,PROM2,PROM2 EXON Missense_E188K,Missense_E188K,Missense_E188K exm211905 2 95942722 [G/C] NM_144707,NM_001165978,NM_001165977 PROM2,PROM2,PROM2 EXON Missense_V229L,Missense_V229L,Missense_V229L exm211910 2 95942803 [A/G] NM_144707,NM_001165978,NM_001165977 PROM2,PROM2,PROM2 EXON Missense_G256S,Missense_G256S,Missense_G256S exm211912 2 95943162 [A/G] NM_144707,NM_001165978,NM_001165977 PROM2,PROM2,PROM2 EXON Missense_E275K,Missense_E275K,Missense_E275K exm211921 2 95943283 [A/G] NM_144707,NM_001165978,NM_001165977 PROM2,PROM2,PROM2 EXON Missense_R315H,Missense_R315H,Missense_R315H exm211927 2 95943726 [A/G] NM_144707,NM_001165978,NM_001165977 PROM2,PROM2,PROM2 EXON Missense_A342T,Missense_A342T,Missense_A342T exm211936 2 95944795 [A/G] NM_144707,NM_001165978,NM_001165977 PROM2,PROM2,PROM2 EXON Missense_G393S,Missense_G393S,Missense_G393S exm211942 2 95945594 [T/G] NM_144707,NM_001165978,NM_001165977 PROM2,PROM2,PROM2 EXON Missense_W426G,Missense_W426G,Missense_W426G exm211943 2 95945600 [A/G] NM_144707,NM_001165978,NM_001165977 PROM2,PROM2,PROM2 EXON Missense_V428M,Missense_V428M,Missense_V428M exm211948 2 95945699 [A/G] NM_144707,NM_001165978,NM_001165977 PROM2,PROM2,PROM2 EXON Missense_S461G,Missense_S461G,Missense_S461G exm211950 2 95945733 [A/G] NM_144707,NM_001165978,NM_001165977 PROM2,PROM2,PROM2 EXON Missense_R472H,Missense_R472H,Missense_R472H exm211960 2 95947085 [A/G] NM_144707,NM_001165978,NM_001165977 PROM2,PROM2,PROM2 EXON Missense_Q508R,Missense_Q508R,Missense_Q508R exm211962 2 95947099 [A/G] NM_144707,NM_001165978,NM_001165977 PROM2,PROM2,PROM2 EXON Missense_G513S,Missense_G513S,Missense_G513S exm211979 2 95950847 [A/C] NM_144707,NM_001165978,NM_001165977 PROM2,PROM2,PROM2 EXON Missense_P620H,Missense_P620H,Missense_P620H exm211987 2 95952226 [A/G] NM_144707,NM_001165978,NM_001165977 PROM2,PROM2,PROM2 Silent,Silent,Silent exm211995 2 95952570 [A/G] NM_144707,NM_001165978,NM_001165977 PROM2,PROM2,PROM2 EXON Missense_V687I,Missense_V687I,Missense_V687I exm212004 2 95953192 [A/G] NM_144707,NM_001165978,NM_001165977 PROM2,PROM2,PROM2 EXON Missense_V742M,Missense_V742M,Missense_V742M exm2030204 2 95954264 [T/C] NM_144707,NM_001165978,NM_001165977 PROM2,PROM2,PROM2 EXON Missense_F790L,Missense_F790L,Missense_F790L exm212013 2 95954266 [A/C] NM_144707,NM_001165978,NM_001165977 PROM2,PROM2,PROM2 EXON Missense_F790L,Missense_F790L,Missense_F790L exm212014 2 95954294 [A/G] NM_144707,NM_001165978,NM_001165977 PROM2,PROM2,PROM2 EXON Missense_V800I,Missense_V800I,Missense_V800I exm212016 2 95954315 [T/C] NM_144707,NM_001165978,NM_001165977 PROM2,PROM2,PROM2 EXON Missense_R807C,Missense_R807C,Missense_R807C exm212020 2 95954724 [A/G] NM_144707,NM_001165978,NM_001165977 PROM2,PROM2,PROM2 EXON Missense_V829I,Missense_V829I,Missense_V829I exm212035 2 95976119 [T/C] NM_013434 KCNIP3 EXON Missense_S11L exm2030217 2 95976152 [T/C] NM_013434 KCNIP3 EXON Missense_T22I exm212042 2 95976203 [A/G] NM_013434 KCNIP3 EXON Missense_R39H exm212059 2 96040645 [T/C] NM_013434,NM_001034914 KCNIP3,KCNIP3 EXON Missense_A119V,Missense_A93V exm212062 2 96040933 [A/G] NM_013434,NM_001034914 KCNIP3,KCNIP3 EXON Missense_G142R,Missense_G116R exm212066 2 96047353 [T/G] NM_013434,NM_001034914 KCNIP3,KCNIP3 EXON Missense_V153F,Missense_V127F exm212072 2 96047419 [A/G] NM_013434,NM_001034914 KCNIP3,KCNIP3 EXON Missense_D175N,Missense_D149N exm212081 2 96048186 [T/C] NM_013434,NM_001034914 KCNIP3,KCNIP3 EXON Missense_L206P,Missense_L180P exm212300 2 96688471 [T/G] NR_003698,NM_207328 FAHD2CP,GPAT2 EXON Silent,Missense_E739A exm212317 2 96689154 [T/C] NM_207328 GPAT2 EXON Missense_R644Q exm212320 2 96689178 [A/G] NM_207328 GPAT2 EXON Missense_S636F exm212338 2 96690279 [T/C] NM_207328 GPAT2 EXON Missense_R522H exm212391 2 96780555 [A/G] NM_000682 ADRA2B EXON Missense_T445M exm212397 2 96780650 [T/G] NM_000682 ADRA2B EXON Nonsense_Y413X exm212403 2 96780763 [T/C] NM_000682 ADRA2B EXON Missense_V376I exm212412 2 96780955 [T/C] NM_000682 ADRA2B EXON Missense_V312M exm212427 2 96781257 [G/C] NM_000682 ADRA2B EXON Missense_G211A exm2030394 2 96789747 [T/C] NM_001002036 ASTL EXON Missense_G380S exm212462 2 96789930 [T/C] NM_001002036 ASTL EXON Missense_E319K exm212464 2 96789954 [A/G] NM_001002036 ASTL EXON Missense_R311W exm212466 2 96795565 [T/C] NM_001002036 ASTL EXON Missense_R291K exm212469 2 96795599 [T/C] NM_001002036 ASTL EXON Missense_G280S exm212471 2 96795608 [T/G] NM_001002036 ASTL EXON Missense_K277Q exm212474 2 96795639 [T/G] NM_001002036 ASTL EXON Missense_N266K exm212479 2 96795704 [A/G] NM_001002036 ASTL EXON Missense_R245W exm212484 2 96795857 [T/C] NM_001002036 ASTL EXON Missense_Q222R exm212485 2 96798305 [T/C] NM_001002036 ASTL EXON Missense_R204H exm212486 2 96798306 [A/G] NM_001002036 ASTL EXON Missense_R204C exm212490 2 96798356 [A/G] NM_001002036 ASTL EXON Missense_V187A exm212494 2 96798410 [A/G] NM_001002036 ASTL EXON Missense_A169V exm212495 2 96798440 [T/C] NM_001002036 ASTL EXON Missense_R159H exm212519 2 96801150 [A/C] NM_001002036 ASTL EXON Synonymous_G61G exm212534 2 96809681 [A/G] NM_004418 DUSP2 EXON Missense_R276C exm212588 2 96852984 [T/C] NM_020151 STARD7 EXON Missense_R300H exm212591 2 96852996 [A/G] NM_020151 STARD7 EXON Missense_T296M exm212600 2 96860703 [T/C] NM_020151 STARD7 EXON Missense_N181S exm212601 2 96860715 [T/C] NM_020151 STARD7 EXON Missense_R177Q exm212608 2 96861159 [C/G] NM_020151 STARD7 EXON Missense_R140P exm212616 2 96873967 [A/G] NM_020151 STARD7 EXON Missense_P69L exm212617 2 96873982 [C/G] NM_020151 STARD7 EXON Missense_R64P exm212623 2 96906083 [T/C] NR_046322 LOC285033 EXON Silent exm212626 2 96906221 [T/C] NR_046322 LOC285033 EXON Silent exm212636 2 96906353 [T/C] NR_046322 LOC285033 EXON Silent exm212638 2 96906359 [G/C] NR_046322 LOC285033 EXON Silent exm212660 2 96920712 [T/C] NM_017849,NM_001193304 TMEM127,TMEM127 EXON Missense_V90M,Missense_V90M exm212664 2 96930912 [T/C] NM_017849,NM_001193304 TMEM127,TMEM127 EXON Missense_D70N,Missense_D70N exm212666 2 96930984 [T/C] NM_017849,NM_001193304 TMEM127,TMEM127 EXON Missense_T46A,Missense_T46A exm212676 2 96933112 [T/C] NM_004804 CIAO1 EXON Missense_R65W exm212680 2 96933136 [A/G] NM_004804 CIAO1 EXON Missense_G73S exm212695 2 96933447 [T/C] NM_004804 CIAO1 EXON Nonsense_R125X exm2030481 2 96933660 [G/C] NM_004804 CIAO1 EXON Missense_E163Q exm212711 2 96934352 [A/G] NM_004804 CIAO1 EXON Missense_R216H exm212713 2 96934388 [A/G] NM_004804 CIAO1 EXON Missense_N228S exm212716 2 96935007 [A/G] NM_004804 CIAO1 EXON Synonymous_G231G exm212720 2 96935044 [A/G] NM_004804 CIAO1 EXON Missense_I244V exm212721 2 96935059 [A/G] NM_004804 CIAO1 EXON Missense_G249S exm212732 2 96937073 [A/G] NM_004804 CIAO1 EXON Missense_R335Q exm212739 2 96940866 [T/C] NM_014014 SNRNP200 EXON Missense_T2099A exm212753 2 96942978 [C/G] NM_014014 SNRNP200 EXON Missense_G1978A exm212767 2 96944341 [A/G] NM_014014 SNRNP200 EXON Missense_A1811V exm212814 2 96950203 [C/G] NM_014014 SNRNP200 EXON Missense_P1429A exm212821 2 96950973 [A/T] NM_014014 SNRNP200 EXON Missense_Q1370L exm2255555 2 96952833 [A/G] NM_014014 SNRNP200 EXON Synonymous_L1184L exm212840 2 96952833 [A/G] NM_014014 SNRNP200 EXON Synonymous_L1184L exm212850 2 96954854 [T/C] NM_014014 SNRNP200 EXON Missense_E1032G exm212855 2 96955053 [T/C] NM_014014 SNRNP200 EXON Missense_N1002S exm212861 2 96955677 [T/C] NM_014014 SNRNP200 EXON Missense_T934A exm212874 2 96958748 [T/C] NM_014014 SNRNP200 EXON Missense_V708I exm212886 2 96961334 [T/G] NM_014014 SNRNP200 EXON Missense_E578D exm212892 2 96962702 [A/G] NM_014014 SNRNP200 EXON Missense_T495M exm212921 2 96966788 [T/C] NM_014014 SNRNP200 EXON Missense_D193G exm212946 2 96992520 [A/G] NM_001008949,NM_001163523,NM_178495,NM_001163524 ITPRIPL1,ITPRIPL1,ITPRIPL1,ITPRIPL1 EXON Missense_E51K,Missense_E43K,Missense_E59K,Missense_E43K exm212947 2 96992526 [T/C] NM_001008949,NM_001163523,NM_178495,NM_001163524 ITPRIPL1,ITPRIPL1,ITPRIPL1,ITPRIPL1 EXON Missense_R53C,Missense_R45C,Missense_R61C,Missense_R45C exm212951 2 96992562 [A/G] NM_001008949,NM_001163523,NM_178495,NM_001163524 ITPRIPL1,ITPRIPL1,ITPRIPL1,ITPRIPL1 EXON Missense_A65T,Missense_A57T,Missense_A73T,Missense_A57T exm212956 2 96992631 [C/G] NM_001008949,NM_001163523,NM_178495,NM_001163524 ITPRIPL1,ITPRIPL1,ITPRIPL1,ITPRIPL1 EXON Missense_G88R,Missense_G80R,Missense_G96R,Missense_G80R exm212957 2 96992645 [C/G] NM_001008949,NM_001163523,NM_178495,NM_001163524 ITPRIPL1,ITPRIPL1,ITPRIPL1,ITPRIPL1 EXON Missense_M92I,Missense_M84I,Missense_M100I,Missense_M84I exm212967 2 96992974 [A/G] NM_001008949,NM_001163523,NM_178495,NM_001163524 ITPRIPL1,ITPRIPL1,ITPRIPL1,ITPRIPL1 EXON Missense_R202Q,Missense_R194Q,Missense_R210Q,Missense_R194Q exm212968 2 96992986 [A/G] NM_001008949,NM_001163523,NM_178495,NM_001163524 ITPRIPL1,ITPRIPL1,ITPRIPL1,ITPRIPL1 EXON Missense_R206H,Missense_R198H,Missense_R214H,Missense_R198H exm212973 2 96993147 [T/C] NM_001008949,NM_001163523,NM_178495,NM_001163524 ITPRIPL1,ITPRIPL1,ITPRIPL1,ITPRIPL1 EXON Missense_R260C,Missense_R252C,Missense_R268C,Missense_R252C exm212977 2 96993193 [A/G] NM_001008949,NM_001163523,NM_178495,NM_001163524 ITPRIPL1,ITPRIPL1,ITPRIPL1,ITPRIPL1 EXON Missense_R275H,Missense_R267H,Missense_R283H,Missense_R267H exm212984 2 96993336 [T/C] NM_001008949,NM_001163523,NM_178495,NM_001163524 ITPRIPL1,ITPRIPL1,ITPRIPL1,ITPRIPL1 EXON Missense_R323W,Missense_R315W,Missense_R331W,Missense_R315W exm212990 2 96993447 [T/C] NM_001008949,NM_001163523,NM_178495,NM_001163524 ITPRIPL1,ITPRIPL1,ITPRIPL1,ITPRIPL1 EXON Missense_R360C,Missense_R352C,Missense_R368C,Missense_R352C exm212991 2 96993477 [T/G] NM_001008949,NM_001163523,NM_178495,NM_001163524 ITPRIPL1,ITPRIPL1,ITPRIPL1,ITPRIPL1 EXON Missense_V370L,Missense_V362L,Missense_V378L,Missense_V362L exm212995 2 96993612 [G/C] NM_001008949,NM_001163523,NM_178495,NM_001163524 ITPRIPL1,ITPRIPL1,ITPRIPL1,ITPRIPL1 EXON Missense_E415Q,Missense_E407Q,Missense_E423Q,Missense_E407Q exm212997 2 96993691 [A/G] NM_001008949,NM_001163523,NM_178495,NM_001163524 ITPRIPL1,ITPRIPL1,ITPRIPL1,ITPRIPL1 EXON Missense_R441H,Missense_R433H,Missense_R449H,Missense_R433H exm212999 2 96993745 [A/G] NM_001008949,NM_001163523,NM_178495,NM_001163524 ITPRIPL1,ITPRIPL1,ITPRIPL1,ITPRIPL1 EXON Missense_R459Q,Missense_R451Q,Missense_R467Q,Missense_R451Q exm213001 2 96993757 [T/C] NM_001008949,NM_001163523,NM_178495,NM_001163524 ITPRIPL1,ITPRIPL1,ITPRIPL1,ITPRIPL1 EXON Missense_T463M,Missense_T455M,Missense_T471M,Missense_T455M exm213003 2 96993806 [A/G] NM_001008949,NM_001163523,NM_178495,NM_001163524 ITPRIPL1,ITPRIPL1,ITPRIPL1,ITPRIPL1 EXON Nonsense_W479X,Nonsense_W471X,Nonsense_W487X,Nonsense_W471X exm213006 2 96993880 [A/T] NM_001008949,NM_001163523,NM_178495,NM_001163524 ITPRIPL1,ITPRIPL1,ITPRIPL1,ITPRIPL1 EXON Missense_I504N,Missense_I496N,Missense_I512N,Missense_I496N exm213010 2 96993930 [C/G] NM_001008949,NM_001163523,NM_178495,NM_001163524 ITPRIPL1,ITPRIPL1,ITPRIPL1,ITPRIPL1 EXON Missense_H521D,Missense_H513D,Missense_H529D,Missense_H513D exm213017 2 97007416 [T/C] NM_015341 NCAPH EXON Missense_T19M exm213020 2 97007457 [A/G] NM_015341 NCAPH EXON Missense_V33M exm213030 2 97007629 [A/G] NM_015341 NCAPH EXON Missense_S90N exm213032 2 97007810 [A/G] NM_015341 NCAPH EXON Missense_I99V exm213034 2 97008504 [T/C] NM_015341 NCAPH EXON Missense_T125I exm213047 2 97009908 [A/G] NM_015341 NCAPH EXON Missense_R221G exm213053 2 97017678 [T/C] NM_015341 NCAPH EXON Missense_P277L exm213060 2 97019131 [A/G] NM_015341 NCAPH EXON Missense_N333S exm213072 2 97020068 [A/G] NM_015341 NCAPH EXON Missense_V384I exm213084 2 97026399 [A/G] NM_015341 NCAPH EXON Missense_N513S exm213087 2 97030247 [T/C] NM_015341 NCAPH EXON Missense_V539A exm213099 2 97031782 [A/G] NM_015341 NCAPH EXON Missense_A623T exm213105 2 97034776 [A/G] NM_015341 NCAPH EXON Missense_G689R exm213112 2 97039069 [A/C] NM_015341 NCAPH EXON Missense_L736I exm213149 2 97213229 [T/G] NM_212481 ARID5A EXON Missense_G32V exm213152 2 97215101 [T/G] NM_212481 ARID5A EXON Missense_R55L exm213170 2 97216429 [A/G] NM_212481 ARID5A EXON Missense_E177K exm213173 2 97216846 [A/G] NM_212481 ARID5A EXON Missense_G194E exm213185 2 97217170 [A/G] NM_212481 ARID5A EXON Missense_K302R exm213186 2 97217176 [T/C] NM_212481 ARID5A EXON Missense_L304P exm213188 2 97217197 [A/G] NM_212481 ARID5A EXON Missense_R311Q exm213195 2 97217449 [A/G] NM_212481 ARID5A EXON Missense_R395H exm213205 2 97217599 [A/G] NM_212481 ARID5A EXON Missense_R445H exm213206 2 97217607 [A/G] NM_212481 ARID5A EXON Missense_E448K exm213227 2 97217991 [A/G] NM_212481 ARID5A EXON Missense_A576T exm213228 2 97218016 [T/C] NM_212481 ARID5A EXON Missense_A584V exm-rs4907240 2 97228039 [A/G] exm213238 2 97267898 [G/C] NR_047656,NM_001115016,NR_047655,NR_047657,NR_047658,NR_047654,NR_047653 KANSL3,KANSL3,KANSL3,KANSL3,KANSL3,KANSL3,KANSL3 EXON Silent,Missense_A813P,Silent,Silent,Silent,Silent,Silent exm213247 2 97268597 [T/C] NR_047656,NM_001115016,NR_047655,NR_047657,NR_047658,NR_047654,NR_047653 KANSL3,KANSL3,KANSL3,KANSL3,KANSL3,KANSL3,KANSL3 EXON Silent,Missense_A718T,Silent,Silent,Silent,Silent,Silent exm213249 2 97270023 [A/G] NR_047656,NM_001115016,NR_047655,NR_047657,NR_047658,NR_047654,NR_047653 KANSL3,KANSL3,KANSL3,KANSL3,KANSL3,KANSL3,KANSL3 EXON Silent,Missense_R705C,Silent,Silent,Silent,Silent,Silent exm213250 2 97270058 [T/C] NR_047656,NM_001115016,NR_047655,NR_047657,NR_047658,NR_047654,NR_047653 KANSL3,KANSL3,KANSL3,KANSL3,KANSL3,KANSL3,KANSL3 EXON Silent,Missense_S693N,Silent,Silent,Silent,Silent,Silent exm213252 2 97270095 [T/C] NR_047656,NM_001115016,NR_047655,NR_047657,NR_047658,NR_047654,NR_047653 KANSL3,KANSL3,KANSL3,KANSL3,KANSL3,KANSL3,KANSL3 EXON Silent,Missense_V681I,Silent,Silent,Silent,Silent,Silent exm213257 2 97271083 [A/G] NR_047656,NM_001115016,NR_047655,NR_047657,NR_047658,NR_047654,NR_047653 KANSL3,KANSL3,KANSL3,KANSL3,KANSL3,KANSL3,KANSL3 EXON Silent,Missense_A636V,Silent,Silent,Silent,Silent,Silent exm213258 2 97271090 [A/G] NR_047656,NM_001115016,NR_047655,NR_047657,NR_047658,NR_047654,NR_047653 KANSL3,KANSL3,KANSL3,KANSL3,KANSL3,KANSL3,KANSL3 EXON Silent,Missense_P634S,Silent,Silent,Silent,Silent,Silent exm213260 2 97271152 [T/G] NR_047656,NM_001115016,NR_047655,NR_047657,NR_047658,NR_047654,NR_047653 KANSL3,KANSL3,KANSL3,KANSL3,KANSL3,KANSL3,KANSL3 EXON Silent,Missense_K613T,Silent,Silent,Silent,Silent,Silent exm213261 2 97271216 [T/C] NR_047656,NM_001115016,NR_047655,NR_047657,NR_047658,NR_047654,NR_047653 KANSL3,KANSL3,KANSL3,KANSL3,KANSL3,KANSL3,KANSL3 EXON Silent,Missense_E592K,Silent,Silent,Silent,Silent,Silent exm213275 2 97274689 [T/C] NR_047656,NM_001115016,NR_047655,NR_047657,NR_047658,NR_047654,NR_047653 KANSL3,KANSL3,KANSL3,KANSL3,KANSL3,KANSL3,KANSL3 EXON Silent,Missense_R499H,Silent,Silent,Silent,Silent,Silent exm213285 2 97276865 [A/G] NR_047656,NM_001115016,NR_047655,NR_047657,NR_047658,NR_047654,NR_047653 KANSL3,KANSL3,KANSL3,KANSL3,KANSL3,KANSL3,KANSL3 EXON Silent,Missense_M366T,Silent,Silent,Silent,Silent,Silent exm213286 2 97276875 [C/G] NR_047656,NM_001115016,NR_047655,NR_047657,NR_047658,NR_047654,NR_047653 KANSL3,KANSL3,KANSL3,KANSL3,KANSL3,KANSL3,KANSL3 EXON Silent,Missense_V363L,Silent,Silent,Silent,Silent,Silent exm213297 2 97279225 [T/C] NR_047656,NM_001115016,NR_047655,NR_047657,NR_047658,NR_047654,NR_047653 KANSL3,KANSL3,KANSL3,KANSL3,KANSL3,KANSL3,KANSL3 EXON Silent,Synonymous_P265P,Silent,Silent,Silent,Silent,Silent exm213301 2 97285156 [C/G] NR_047656,NM_001115016,NR_047655,NR_047657,NR_047658,NR_047654,NR_047653 KANSL3,KANSL3,KANSL3,KANSL3,KANSL3,KANSL3,KANSL3 EXON Silent,Missense_E201D,Silent,Silent,Silent,Silent,Silent exm213312 2 97313565 [A/G] NM_001113382 FER1L5 EXON Missense_S94N exm213324 2 97327994 [T/C] NM_001113382 FER1L5 EXON Missense_I337T exm213339 2 97335865 [A/G] NM_001113382 FER1L5 EXON Missense_D453N exm213346 2 97350120 [T/G] NM_001113382 FER1L5 EXON Missense_S571A exm213349 2 97351735 [T/C] NM_001113382 FER1L5 EXON Missense_W647R exm213351 2 97351840 [A/G] NM_001113382 FER1L5 EXON Missense_T682A exm213354 2 97352050 [T/G] NM_001113382 FER1L5 EXON Missense_G726V exm213358 2 97354949 [A/G] NM_001113382 FER1L5 Silent exm213359 2 97355026 [T/C] NM_001113382 FER1L5 EXON Missense_M808T exm213362 2 97355475 [A/G] NM_001113382 FER1L5 EXON Missense_A869T exm213372 2 97357466 [A/G] NM_001113382 FER1L5 EXON Missense_E1021K exm213375 2 97357659 [A/C] NM_001113382 FER1L5 EXON Missense_T1085N exm213380 2 97359422 [T/G] NM_001113382 FER1L5 EXON Missense_W1185G exm213394 2 97361561 [T/C] NM_001113382 FER1L5 EXON Missense_T1353M exm2255557 2 97363788 [A/G] NM_001113382 FER1L5 EXON Synonymous_E1444E exm213412 2 97364795 [T/C] NM_001113382 FER1L5 EXON Missense_V1538A exm213418 2 97365685 [T/C] NM_001113382 FER1L5 EXON Missense_W1627R exm213444 2 97369361 [A/T] NM_001113382 FER1L5 EXON Missense_H1967Q exm213455 2 97370322 [A/C] NM_001113382 FER1L5 EXON Missense_Q2059K exm213468 2 97377453 [T/C] NR_024520,NM_030805,NM_001142292,NR_024518,NR_024519,NR_024521 LMAN2L,LMAN2L,LMAN2L,LMAN2L,LMAN2L,LMAN2L EXON Silent,Missense_G242R,Missense_G253R,Silent,Silent,Silent exm213472 2 97377653 [T/C] NR_024520,NM_030805,NM_001142292,NR_024518,NR_024519,NR_024521 LMAN2L,LMAN2L,LMAN2L,LMAN2L,LMAN2L,LMAN2L EXON Silent,Missense_N206S,Missense_N217S,Silent,Silent,Silent exm213473 2 97377701 [T/C] NR_024520,NM_030805,NM_001142292,NR_024518,NR_024519,NR_024521 LMAN2L,LMAN2L,LMAN2L,LMAN2L,LMAN2L,LMAN2L EXON Silent,Missense_R190Q,Missense_R201Q,Silent,Silent,Silent exm213480 2 97377761 [T/C] NR_024520,NM_030805,NM_001142292,NR_024518,NR_024519,NR_024521 LMAN2L,LMAN2L,LMAN2L,LMAN2L,LMAN2L,LMAN2L EXON Silent,Missense_R170Q,Missense_R181Q,Silent,Silent,Silent exm213483 2 97399339 [G/C] NR_024520,NM_030805,NM_001142292,NR_024518,NR_024519,NR_024521 LMAN2L,LMAN2L,LMAN2L,LMAN2L,LMAN2L,LMAN2L Silent,Silent,Silent,Silent,Silent,Silent exm213499 2 97405735 [A/G] NR_024520,NM_030805,NM_001142292,NR_024518,NR_024519,NR_024521 LMAN2L,LMAN2L,LMAN2L,LMAN2L,LMAN2L,LMAN2L EXON Silent,Missense_R15W,Missense_R15W,Silent,Silent,Silent exm213501 2 97405750 [A/G] NR_024520,NM_030805,NM_001142292,NR_024518,NR_024519,NR_024521 LMAN2L,LMAN2L,LMAN2L,LMAN2L,LMAN2L,LMAN2L EXON Silent,Missense_S10P,Missense_S10P,Silent,Silent,Silent exm-rs2314398 2 97413488 [C/G] exm2030803 2 97427170 [T/C] NM_020184 CNNM4 EXON Missense_M145T exm213520 2 97427292 [A/G] NM_020184 CNNM4 EXON Missense_I186V exm213529 2 97427524 [A/G] NM_020184 CNNM4 EXON Missense_N263S exm213535 2 97427714 [T/G] NM_020184 CNNM4 EXON Missense_F326L exm213557 2 97462887 [T/C] NM_020184 CNNM4 EXON Missense_M514T exm213584 2 97465379 [T/C] NM_020184 CNNM4 EXON Missense_P648S exm213585 2 97465384 [T/C] NM_020184 CNNM4 EXON Synonymous_S649S exm213599 2 97475181 [T/G] NM_020184 CNNM4 EXON Missense_V752G exm213626 2 97482906 [A/G] NM_017623,NM_199078 CNNM3,CNNM3 EXON Missense_G298S,Missense_G298S exm213637 2 97483162 [T/C] NM_017623,NM_199078 CNNM3,CNNM3 EXON Missense_T383I,Missense_T383I exm213638 2 97483174 [A/G] NM_017623,NM_199078 CNNM3,CNNM3 EXON Missense_N387S,Missense_N387S exm2263946 2 97489870 [A/C] NM_017623,NM_199078 CNNM3,CNNM3 Silent,Silent exm213656 2 97492578 [A/G] NM_017623,NM_199078 CNNM3,CNNM3 EXON Missense_V460M,Missense_V412M exm213657 2 97492648 [T/C] NM_017623,NM_199078 CNNM3,CNNM3 EXON Missense_V483A,Missense_V435A exm213659 2 97492705 [A/G] NM_017623,NM_199078 CNNM3,CNNM3 EXON Missense_R502H,Missense_R454H exm213663 2 97493505 [T/G] NM_017623,NM_199078 CNNM3,CNNM3 EXON Missense_K519N,Missense_K471N exm213681 2 97494339 [T/C] NM_017623,NM_199078 CNNM3,CNNM3 EXON Missense_R608C,Missense_R560C exm213682 2 97494340 [A/G] NM_017623,NM_199078 CNNM3,CNNM3 EXON Missense_R608H,Missense_R560H exm213685 2 97494373 [T/C] NM_017623,NM_199078 CNNM3,CNNM3 EXON Missense_T619M,Missense_T571M exm213686 2 97494385 [T/C] NM_017623,NM_199078 CNNM3,CNNM3 EXON Missense_A623V,Missense_A575V exm213695 2 97494772 [G/C] NM_017623,NM_199078 CNNM3,CNNM3 EXON Missense_R654G,Missense_R606G exm213725 2 97505745 [T/C] NM_144994 ANKRD23 EXON Missense_A238T exm213745 2 97506550 [T/C] NM_144994 ANKRD23 EXON Missense_G134R exm213746 2 97506570 [A/G] NM_144994 ANKRD23 EXON Missense_I127T exm213757 2 97507843 [T/C] NM_144994 ANKRD23 EXON Missense_R85Q exm213763 2 97508139 [T/C] NM_144994 ANKRD23 EXON Missense_R46Q exm213764 2 97508140 [A/G] NM_144994 ANKRD23 EXON Missense_R46W exm213766 2 97508165 [A/C] NM_144994 ANKRD23 EXON Missense_R37S exm213786 2 97519158 [T/C] NM_016466 ANKRD39 EXON Missense_G130S exm213792 2 97519206 [A/G] NM_016466 ANKRD39 EXON Missense_R114W exm213821 2 97526521 [A/G] NM_017789 SEMA4C EXON Missense_R782W exm213830 2 97526787 [T/A] NM_017789 SEMA4C EXON Missense_E693V exm213831 2 97526788 [A/C] NM_017789 SEMA4C EXON Nonsense_E693X exm213847 2 97527021 [A/G] NM_017789 SEMA4C EXON Missense_M615T exm213848 2 97527057 [T/A] NM_017789 SEMA4C EXON Missense_F603Y exm213850 2 97527061 [A/T] NM_017789 SEMA4C EXON Missense_S602T exm213853 2 97527075 [A/G] NM_017789 SEMA4C EXON Missense_A597V exm213854 2 97527087 [T/C] NM_017789 SEMA4C EXON Missense_R593Q exm213855 2 97527138 [C/G] NM_017789 SEMA4C EXON Missense_P576R exm213866 2 97527490 [T/C] NM_017789 SEMA4C EXON Missense_V529M exm213890 2 97530097 [T/C] NM_017789 SEMA4C EXON Missense_I329V exm213899 2 97530748 [T/C] NM_017789 SEMA4C EXON Missense_D247N exm213916 2 97531651 [A/G] NM_017789 SEMA4C EXON Missense_P92S exm213936 2 97543662 [A/G] NM_001172667,NM_016490,NM_001122646 FAM178B,FAM178B,FAM178B EXON Missense_R117C,Missense_R98C,Missense_R658C exm213939 2 97543701 [A/G] NM_001172667,NM_016490,NM_001122646 FAM178B,FAM178B,FAM178B EXON Missense_R104C,Missense_R85C,Missense_R645C exm213961 2 97589274 [T/C] NM_001122646 FAM178B EXON Missense_A414T exm213977 2 97626127 [T/G] NM_001122646 FAM178B EXON Missense_H262P exm213980 2 97633267 [G/C] NM_001122646 FAM178B EXON Missense_P242A exm213987 2 97637722 [T/G] NM_001122646 FAM178B EXON Missense_D160E exm213997 2 97637905 [T/C] NM_001122646 FAM178B EXON Missense_I99M exm213998 2 97638038 [A/G] NM_001122646 FAM178B EXON Missense_V55A exm214000 2 97638311 [A/G] NM_001122646 FAM178B EXON Missense_P36S exm-rs1796049 2 97645785 [T/C] NM_001122646 FAM178B Silent exm214009 2 97749512 [T/C] NM_199336 FAHD2B EXON Missense_I309V exm214096 2 97790279 [C/G] NM_001164315 ANKRD36 EXON Missense_R226G exm214505 2 98263883 [A/G] NM_001862 COX5B EXON Missense_N85S exm214511 2 98264548 [A/G] NM_001862 COX5B EXON Missense_V123M exm214526 2 98273912 [T/C] NM_005735 ACTR1B EXON Missense_K329R exm214536 2 98274529 [A/C] NM_005735 ACTR1B EXON Missense_V268F exm214564 2 98275102 [T/C] NM_005735 ACTR1B EXON Missense_A149T exm214566 2 98275343 [A/G] NM_005735 ACTR1B EXON Synonymous_L147L exm214567 2 98275354 [A/G] NM_005735 ACTR1B EXON Missense_A143V exm214570 2 98275402 [A/G] NM_005735 ACTR1B EXON Missense_V127A exm214579 2 98275876 [T/G] NM_005735 ACTR1B EXON Missense_D85A exm214587 2 98277090 [T/C] NM_005735 ACTR1B EXON Missense_M45V exm2265336 2 98317685 [A/G] NR_038386 LOC728537 EXON Silent exm214615 2 98341616 [T/C] NM_001079 ZAP70 EXON Missense_T155M exm2269103 2 98345086 [T/G] NM_001079 ZAP70 Silent exm214656 2 98351118 [T/C] NM_001079,NM_207519 ZAP70,ZAP70 EXON Missense_I342T,Missense_I35T exm214666 2 98351912 [A/G] NM_001079,NM_207519 ZAP70,ZAP70 EXON Missense_G428S,Missense_G121S exm214680 2 98354227 [T/C] NM_001079,NM_207519 ZAP70,ZAP70 EXON Missense_S497L,Missense_S190L exm214688 2 98354479 [A/G] NM_001079,NM_207519 ZAP70,ZAP70 EXON Missense_M549V,Missense_M242V exm214700 2 98373584 [A/G] NM_015348 TMEM131 EXON Missense_S1877L exm214701 2 98373607 [T/G] NM_015348 TMEM131 EXON Missense_R1869S exm214703 2 98373620 [A/G] NM_015348 TMEM131 EXON Missense_T1865M exm214704 2 98373635 [T/C] NM_015348 TMEM131 EXON Missense_R1860Q exm214711 2 98373842 [A/T] NM_015348 TMEM131 EXON Missense_V1791D exm214720 2 98375420 [A/G] NM_015348 TMEM131 EXON Missense_S1768L exm214722 2 98375442 [T/C] NM_015348 TMEM131 EXON Missense_G1761S exm214727 2 98376207 [C/G] NM_015348 TMEM131 EXON Missense_G1705A exm214737 2 98378517 [T/C] NM_015348 TMEM131 EXON Missense_V1624I exm214739 2 98378534 [T/C] NM_015348 TMEM131 EXON Missense_G1618D exm214744 2 98378573 [A/G] NM_015348 TMEM131 EXON Missense_P1605L exm214752 2 98382950 [T/G] NM_015348 TMEM131 EXON Missense_K1522Q exm2031089 2 98382991 [C/G] NM_015348 TMEM131 EXON Missense_P1508R exm214767 2 98392393 [T/A] NM_015348 TMEM131 EXON Missense_D1411E exm2238205 2 98392449 [T/G] NM_015348 TMEM131 EXON Missense_P1393T exm214773 2 98408918 [T/C] NM_015348 TMEM131 EXON Missense_D1359N exm214774 2 98408924 [G/C] NM_015348 TMEM131 EXON Missense_D1357H exm214796 2 98409398 [T/C] NM_015348 TMEM131 EXON Missense_A1199T exm214807 2 98411409 [T/C] NM_015348 TMEM131 EXON Missense_I1124V exm214808 2 98411412 [T/C] NM_015348 TMEM131 EXON Missense_I1123V exm214811 2 98412705 [T/C] NM_015348 TMEM131 EXON Missense_N1059S exm214814 2 98412847 [T/C] NM_015348 TMEM131 EXON Missense_N1012D exm214824 2 98413930 [T/C] NM_015348 TMEM131 EXON Missense_H923R exm214829 2 98418405 [T/C] NM_015348 TMEM131 EXON Missense_A891T exm214835 2 98419146 [T/C] NM_015348 TMEM131 EXON Missense_K837R exm214843 2 98421626 [A/G] NM_015348 TMEM131 EXON Missense_M776T exm214846 2 98422079 [A/C] NM_015348 TMEM131 EXON Missense_V715L exm214853 2 98427662 [T/C] NM_015348 TMEM131 EXON Missense_R633G exm214861 2 98429181 [T/C] NM_015348 TMEM131 EXON Missense_R550H exm214872 2 98430762 [A/G] NM_015348 TMEM131 EXON Missense_T461I exm214874 2 98430837 [A/T] NM_015348 TMEM131 EXON Missense_D436V exm214876 2 98431707 [T/C] NM_015348 TMEM131 EXON Missense_S416N exm2238208 2 98453560 [T/C] NM_015348 TMEM131 EXON Missense_G262R exm214892 2 98475853 [T/G] NM_015348 TMEM131 EXON Missense_H133N exm214902 2 98543945 [T/C] NM_015348 TMEM131 EXON Missense_V65I exm2031157 2 98543946 [A/G] NM_015348 TMEM131 EXON Synonymous_F64F exm214912 2 98709673 [T/C] NM_144992 VWA3B EXON Missense_L40F exm214913 2 98709679 [A/C] NM_144992 VWA3B EXON Missense_L42M exm214919 2 98732160 [A/G] NM_144992 VWA3B EXON Missense_D81G exm214931 2 98736225 [T/C] NM_144992 VWA3B EXON Missense_R181W exm214938 2 98737854 [T/C] NM_144992 VWA3B EXON Missense_T212M exm2031166 2 98737874 [T/G] NM_144992 VWA3B EXON Nonsense_E219X exm214942 2 98737884 [A/G] NM_144992 VWA3B EXON Missense_R222H exm214954 2 98750371 [T/G] NM_144992 VWA3B EXON Missense_N319K exm-rs7598069 2 98761391 [A/G] NM_144992 VWA3B Silent exm214957 2 98779343 [A/G] NM_144992 VWA3B EXON Missense_V340I exm2031176 2 98779397 [A/G] NM_144992 VWA3B EXON Missense_V358M exm214960 2 98779398 [T/G] NM_144992 VWA3B EXON Missense_V358G exm214966 2 98779439 [T/G] NM_144992 VWA3B EXON Nonsense_E372X exm214968 2 98797509 [T/C] NM_144992 VWA3B EXON Missense_S382L exm214974 2 98797610 [T/C] NM_144992 VWA3B EXON Missense_R416C exm214976 2 98797616 [A/G] NM_144992 VWA3B EXON Missense_A418T exm214982 2 98804489 [A/G] NM_144992 VWA3B EXON Missense_A455T exm214991 2 98809432 [T/C] NM_144992 VWA3B EXON Missense_I513T exm214996 2 98810887 [T/C] NM_144992 VWA3B EXON Missense_R557W exm214998 2 98810932 [T/C] NM_144992 VWA3B EXON Nonsense_Q572X exm215008 2 98844674 [C/G] NM_144992 VWA3B EXON Missense_L677V exm215022 2 98851206 [T/C] NM_144992 VWA3B EXON Missense_R802W exm215029 2 98852913 [A/G] NM_144992 VWA3B EXON Missense_R830Q exm2031211 2 98853132 [T/C] NM_144992 VWA3B EXON Missense_P871L exm215041 2 98853173 [A/G] NM_144992 VWA3B EXON Missense_V885M exm215049 2 98872589 [A/G] NM_144992 VWA3B EXON Missense_R932H exm215059 2 98887209 [T/C] NM_144992 VWA3B EXON Missense_R970W exm215066 2 98887339 [T/C] NM_144992 VWA3B EXON Missense_P1013L exm215072 2 98907070 [A/G] NM_144992 VWA3B EXON Missense_G1048S exm215084 2 98916568 [T/G] NM_144992 VWA3B EXON Missense_I1103M exm215088 2 98916675 [A/G] NM_144992 VWA3B EXON Missense_R1139Q exm215089 2 98920177 [T/C] NM_144992 VWA3B EXON Missense_R1145W exm215092 2 98920226 [G/C] NM_144992 VWA3B EXON Missense_S1161C exm215101 2 98928429 [G/C] NM_144992 VWA3B EXON Missense_D1223E exm215106 2 98928757 [T/C] NM_144992 VWA3B EXON Missense_T1277I exm215122 2 98994158 [T/C] NM_001079878,NM_001298 CNGA3,CNGA3 EXON Missense_S37L,Missense_S37L exm215126 2 98994191 [T/C] NM_001079878,NM_001298 CNGA3,CNGA3 EXON Missense_P48L,Missense_P48L exm215142 2 98996706 [T/C] NM_001079878,NM_001298 CNGA3,CNGA3 EXON Missense_P95L,Missense_P95L exm215146 2 98996775 [A/G] NM_001079878,NM_001298 CNGA3,CNGA3 EXON Missense_Q118R,Missense_Q118R exm215150 2 98999895 [C/G] NM_001079878,NM_001298 CNGA3,CNGA3 EXON Silent,Missense_T147R exm2269104 2 99005601 [T/C] NM_001079878,NM_001298 CNGA3,CNGA3 Silent,Silent exm215157 2 99006129 [T/C] NM_001079878,NM_001298 CNGA3,CNGA3 EXON Missense_T135M,Missense_T153M exm215171 2 99008352 [A/G] NM_001079878,NM_001298 CNGA3,CNGA3 EXON Missense_E180K,Missense_E198K exm215178 2 99008427 [T/C] NM_001079878,NM_001298 CNGA3,CNGA3 EXON Missense_R205W,Missense_R223W exm215184 2 99012367 [T/C] NM_001079878,NM_001298 CNGA3,CNGA3 EXON Missense_T227M,Missense_T245M exm215186 2 99012373 [T/C] NM_001079878,NM_001298 CNGA3,CNGA3 EXON Missense_T229M,Missense_T247M exm215190 2 99012423 [T/A] NM_001079878,NM_001298 CNGA3,CNGA3 EXON Missense_L246I,Missense_L264I exm215191 2 99012444 [C/G] NM_001079878,NM_001298 CNGA3,CNGA3 EXON Missense_P253A,Missense_P271A exm215192 2 99012458 [C/G] NM_001079878,NM_001298 CNGA3,CNGA3 EXON Missense_F257L,Missense_F275L exm215197 2 99012502 [A/G] NM_001079878,NM_001298 CNGA3,CNGA3 EXON Missense_R272H,Missense_R290H exm215203 2 99012600 [C/G] NM_001079878,NM_001298 CNGA3,CNGA3 EXON Missense_A305P,Missense_A323P exm215213 2 99012912 [T/C] NM_001079878,NM_001298 CNGA3,CNGA3 EXON Missense_R409C,Missense_R427C exm215217 2 99012976 [A/G] NM_001079878,NM_001298 CNGA3,CNGA3 EXON Missense_K430R,Missense_K448R exm2031262 2 99013075 [A/G] NM_001079878,NM_001298 CNGA3,CNGA3 EXON Missense_R463H,Missense_R481H exm215235 2 99013251 [A/G] NM_001079878,NM_001298 CNGA3,CNGA3 EXON Missense_V522I,Missense_V540I exm215237 2 99013260 [A/G] NM_001079878,NM_001298 CNGA3,CNGA3 EXON Missense_D525N,Missense_D543N exm215241 2 99013302 [A/G] NM_001079878,NM_001298 CNGA3,CNGA3 EXON Missense_G539R,Missense_G557R exm215244 2 99013327 [T/C] NM_001079878,NM_001298 CNGA3,CNGA3 EXON Missense_T547M,Missense_T565M exm215259 2 99013582 [A/C] NM_001079878,NM_001298 CNGA3,CNGA3 EXON Missense_E632A,Missense_E650A exm215262 2 99013614 [A/C] NM_001079878,NM_001298 CNGA3,CNGA3 EXON Missense_R643S,Missense_R661S exm215271 2 99149864 [T/C] NM_004027,NM_001134224,NM_001134225,NM_001566 INPP4A,INPP4A,INPP4A,INPP4A EXON Missense_S59L,Missense_S59L,Missense_S59L,Missense_S59L exm215273 2 99149939 [T/C] NM_004027,NM_001134224,NM_001134225,NM_001566 INPP4A,INPP4A,INPP4A,INPP4A EXON Missense_A84V,Missense_A84V,Missense_A84V,Missense_A84V exm215282 2 99154395 [A/C] NM_004027,NM_001134224,NM_001134225,NM_001566 INPP4A,INPP4A,INPP4A,INPP4A EXON Missense_Q179H,Missense_Q179H,Missense_Q179H,Missense_Q179H exm215294 2 99155999 [A/G] NM_004027,NM_001134224,NM_001134225,NM_001566 INPP4A,INPP4A,INPP4A,INPP4A EXON Missense_G227S,Missense_G227S,Missense_G227S,Missense_G227S exm2273810 2 99170758 [A/G] NM_004027,NM_001134224,NM_001134225,NM_001566 INPP4A,INPP4A,INPP4A,INPP4A EXON Missense_D463N,Missense_D463N,Missense_D458N,Missense_D463N exm215324 2 99170912 [A/G] NM_004027,NM_001134224,NM_001134225,NM_001566 INPP4A,INPP4A,INPP4A,INPP4A EXON Missense_S514N,Missense_S514N,Missense_S509N,Missense_S514N exm215336 2 99172244 [A/G] NM_004027,NM_001134224,NM_001134225,NM_001566 INPP4A,INPP4A,INPP4A,INPP4A EXON Silent,Missense_T604A,Missense_T599A,Silent exm215339 2 99175940 [T/C] NM_004027,NM_001134224,NM_001134225,NM_001566 INPP4A,INPP4A,INPP4A,INPP4A EXON Missense_P579S,Missense_P618S,Missense_P613S,Missense_P579S exm2255562 2 99181108 [T/C] NM_004027,NM_001134224,NM_001134225,NM_001566 INPP4A,INPP4A,INPP4A,INPP4A EXON Synonymous_T644T,Synonymous_T683T,Synonymous_T678T,Synonymous_T644T exm215351 2 99181108 [T/C] NM_004027,NM_001134224,NM_001134225,NM_001566 INPP4A,INPP4A,INPP4A,INPP4A EXON Synonymous_T644T,Synonymous_T683T,Synonymous_T678T,Synonymous_T644T exm215369 2 99182527 [T/C] NM_004027,NM_001134224,NM_001134225,NM_001566 INPP4A,INPP4A,INPP4A,INPP4A EXON Missense_P738L,Missense_P777L,Missense_P772L,Missense_P738L exm215371 2 99182547 [T/C] NM_004027,NM_001134224,NM_001134225,NM_001566 INPP4A,INPP4A,INPP4A,INPP4A EXON Missense_R745W,Missense_R784W,Missense_R779W,Missense_R745W exm2031310 2 99185068 [A/G] NM_004027,NM_001134224,NM_001134225,NM_001566 INPP4A,INPP4A,INPP4A,INPP4A EXON Missense_V785M,Missense_V824M,Missense_V819M,Missense_V785M exm215379 2 99189370 [A/G] NM_004027,NM_001134224,NM_001134225,NM_001566 INPP4A,INPP4A,INPP4A,INPP4A EXON Missense_I837V,Missense_I876V,Missense_I871V,Missense_I837V exm215403 2 99224843 [A/G] NM_001008215 COA5 EXON Missense_P9L exm215421 2 99227330 [A/G] NM_014044 UNC50 EXON Missense_V125I exm215429 2 99232993 [A/G] NM_014044 UNC50 EXON Missense_S214G exm-rs12618769 2 99239931 [T/C] NM_012214,NM_001160154 MGAT4A,MGAT4A EXON Silent,Silent exm215440 2 99242245 [T/C] NM_012214,NM_001160154 MGAT4A,MGAT4A EXON Missense_I508V,Missense_I380V exm215443 2 99252984 [A/G] NM_012214,NM_001160154 MGAT4A,MGAT4A EXON Missense_F466S,Missense_F338S exm215448 2 99256287 [A/G] NM_012214,NM_001160154 MGAT4A,MGAT4A EXON Missense_P436S,Missense_P308S exm215450 2 99256354 [T/C] NM_012214,NM_001160154 MGAT4A,MGAT4A EXON Missense_M413I,Missense_M285I exm2031351 2 99260459 [T/A] NM_012214,NM_001160154 MGAT4A,MGAT4A EXON Missense_Y316F,Missense_Y188F exm215457 2 99260498 [A/G] NM_012214,NM_001160154 MGAT4A,MGAT4A EXON Missense_P303L,Missense_P175L exm215458 2 99260501 [A/G] NM_012214,NM_001160154 MGAT4A,MGAT4A EXON Missense_A302V,Missense_A174V exm215462 2 99271976 [T/C] NM_012214,NM_001160154 MGAT4A,MGAT4A EXON Missense_T236A,Missense_T108A exm2265337 2 99279354 [A/G] NM_012214,NM_001160154 MGAT4A,MGAT4A Silent,Silent exm215474 2 99279812 [A/C] NM_012214,NM_001160154 MGAT4A,MGAT4A EXON Silent,Missense_S4I exm215477 2 99291525 [T/C] NM_012214 MGAT4A EXON Missense_V126I exm215483 2 99294838 [A/G] NM_012214 MGAT4A EXON Missense_T64M exm215487 2 99294901 [A/G] NM_012214 MGAT4A EXON Missense_A43V exm215494 2 99342785 [T/C] NM_012214 MGAT4A EXON Missense_R4H exm215501 2 99412654 [T/C] NM_207362 KIAA1211L EXON Missense_R893Q exm215504 2 99412703 [T/C] NM_207362 KIAA1211L EXON Missense_V877I exm215513 2 99413949 [A/G] NM_207362 KIAA1211L EXON Missense_A823V exm215538 2 99438624 [G/C] NM_207362 KIAA1211L EXON Missense_K704N exm215566 2 99439512 [G/C] NM_207362 KIAA1211L EXON Missense_E408D exm215580 2 99443520 [A/C] NM_207362 KIAA1211L EXON Missense_C218F exm215581 2 99443571 [T/C] NM_207362 KIAA1211L EXON Missense_N201S exm215587 2 99448834 [T/C] NM_207362 KIAA1211L EXON Missense_V173M exm215597 2 99449387 [T/C] NM_207362 KIAA1211L EXON Missense_A105T exm-rs6733011 2 99465502 [A/G] NM_207362 KIAA1211L Silent exm2255564 2 99520608 [T/C] NM_207362 KIAA1211L Silent exm215617 2 99634748 [T/G] NM_182911,NM_025244 TSGA10,TSGA10 EXON Missense_T663P,Missense_T663P exm215618 2 99634759 [T/C] NM_182911,NM_025244 TSGA10,TSGA10 EXON Missense_H659R,Missense_H659R exm215622 2 99634802 [T/C] NM_182911,NM_025244 TSGA10,TSGA10 EXON Missense_V645I,Missense_V645I exm215630 2 99636839 [T/C] NM_182911,NM_025244 TSGA10,TSGA10 EXON Missense_N574S,Missense_N574S exm215634 2 99636915 [C/G] NM_182911,NM_025244 TSGA10,TSGA10 EXON Missense_E549Q,Missense_E549Q exm215636 2 99636928 [A/C] NM_182911,NM_025244 TSGA10,TSGA10 EXON Missense_D544E,Missense_D544E exm215640 2 99651798 [A/G] NM_182911,NM_025244 TSGA10,TSGA10 EXON Synonymous_S503S,Synonymous_S503S exm2255565 2 99651798 [A/G] NM_182911,NM_025244 TSGA10,TSGA10 EXON Synonymous_S503S,Synonymous_S503S exm215647 2 99685416 [A/T] NM_182911,NM_025244 TSGA10,TSGA10 EXON Missense_I385L,Missense_I385L exm215650 2 99688209 [T/C] NM_182911,NM_025244 TSGA10,TSGA10 EXON Missense_N356S,Missense_N356S exm2031413 2 99688332 [C/G] NM_182911,NM_025244 TSGA10,TSGA10 EXON Missense_C315S,Missense_C315S exm215658 2 99689511 [T/C] NM_182911,NM_025244 TSGA10,TSGA10 EXON Missense_N303S,Missense_N303S exm215669 2 99720436 [T/G] NM_182911,NM_025244 TSGA10,TSGA10 EXON Missense_S202Y,Missense_S202Y exm215681 2 99722135 [T/C] NM_182911,NM_025244 TSGA10,TSGA10 EXON Missense_R79Q,Missense_R79Q exm215682 2 99722141 [T/C] NM_182911,NM_025244 TSGA10,TSGA10 EXON Missense_R77Q,Missense_R77Q exm2031431 2 99725857 [A/C] NM_182911,NM_025244 TSGA10,TSGA10 EXON Missense_A16S,Missense_A16S exm215696 2 99767073 [A/G] NM_025244,NM_144706 TSGA10,C2orf15 EXON Silent,Missense_D52N exm215698 2 99767280 [A/T] NM_025244,NM_144706 TSGA10,C2orf15 EXON Silent,Missense_M121L exm215703 2 99778529 [A/G] NR_037936,NM_015929,NM_145198,NM_145197,NM_145199,NM_001204830,NR_037935 LIPT1,LIPT1,LIPT1,LIPT1,LIPT1,LIPT1,LIPT1 EXON Silent,Missense_I37V,Missense_I37V,Missense_I37V,Missense_I37V,Missense_I37V,Silent exm2275598 2 99778712 [C/G] NR_037936,NM_015929,NM_145198,NM_145197,NM_145199,NM_001204830,NR_037935 LIPT1,LIPT1,LIPT1,LIPT1,LIPT1,LIPT1,LIPT1 EXON Silent,Missense_R98G,Missense_R98G,Missense_R98G,Missense_R98G,Missense_R98G,Silent exm215710 2 99778861 [T/G] NR_037936,NM_015929,NM_145198,NM_145197,NM_145199,NM_001204830,NR_037935 LIPT1,LIPT1,LIPT1,LIPT1,LIPT1,LIPT1,LIPT1 EXON Silent,Missense_Q147H,Missense_Q147H,Missense_Q147H,Missense_Q147H,Missense_Q147H,Silent exm215711 2 99778872 [A/G] NR_037936,NM_015929,NM_145198,NM_145197,NM_145199,NM_001204830,NR_037935 LIPT1,LIPT1,LIPT1,LIPT1,LIPT1,LIPT1,LIPT1 EXON Silent,Missense_R151K,Missense_R151K,Missense_R151K,Missense_R151K,Missense_R151K,Silent exm215719 2 99779033 [A/G] NR_037936,NM_015929,NM_145198,NM_145197,NM_145199,NM_001204830,NR_037935 LIPT1,LIPT1,LIPT1,LIPT1,LIPT1,LIPT1,LIPT1 EXON Silent,Missense_T205A,Missense_T205A,Missense_T205A,Missense_T205A,Missense_T205A,Silent exm215729 2 99779295 [C/G] NR_037936,NM_015929,NM_145198,NM_145197,NM_145199,NM_001204830,NR_037935 LIPT1,LIPT1,LIPT1,LIPT1,LIPT1,LIPT1,LIPT1 EXON Silent,Nonsense_S292X,Nonsense_S292X,Nonsense_S292X,Nonsense_S292X,Nonsense_S292X,Silent exm215747 2 99787009 [T/C] NM_138798 MITD1 EXON Missense_R195Q exm215761 2 99788049 [T/G] NM_138798 MITD1 EXON Nonsense_S105X exm215778 2 99802676 [A/G] NM_145212,NR_028356 MRPL30,MRPL30 EXON Missense_I4V,Silent exm215781 2 99804643 [A/G] NM_145212,NR_028356 MRPL30,MRPL30 EXON Missense_V19M,Silent exm215788 2 99811250 [A/G] NM_145212,NR_028356 MRPL30,MRPL30 EXON Missense_G57S,Silent exm215794 2 99811314 [A/G] NM_145212,NR_028356 MRPL30,MRPL30 EXON Missense_R78H,Silent exm215796 2 99811642 [T/C] NM_145212,NR_028356 MRPL30,MRPL30 EXON Missense_H115Y,Silent exm215799 2 99812070 [A/G] NM_145212,NR_028356 MRPL30,MRPL30 EXON Missense_A130T,Silent exm215804 2 99812164 [T/C] NM_145212,NR_028356 MRPL30,MRPL30 EXON Missense_S161F,Silent exm215808 2 99858897 [A/G] NM_175735 LYG2 EXON Missense_S190L exm215812 2 99858946 [T/C] NM_175735 LYG2 Silent exm215815 2 99860537 [T/C] NM_175735 LYG2 EXON Missense_T149A exm215818 2 99860573 [T/C] NM_175735 LYG2 EXON Missense_G137S exm215829 2 99863144 [A/G] NM_175735 LYG2 EXON Synonymous_C61C exm215831 2 99863203 [T/C] NM_175735 LYG2 EXON Missense_D42N exm215834 2 99863227 [A/G] NM_175735 LYG2 EXON Missense_R34C exm215837 2 99870684 [T/G] NM_175735 LYG2 EXON Missense_I14L exm215841 2 99900888 [A/G] NM_174898 LYG1 EXON Nonsense_R185X exm215842 2 99900927 [C/G] NM_174898 LYG1 EXON Missense_Q172E exm215845 2 99901150 [T/C] NM_174898 LYG1 Silent exm215849 2 99907785 [A/G] NM_174898 LYG1 EXON Missense_P83L exm215861 2 99909020 [A/G] NM_174898 LYG1 EXON Missense_R43C exm215877 2 99938565 [T/C] NM_005783 TXNDC9 EXON Missense_H139R exm215881 2 99938672 [A/C] NM_005783 TXNDC9 EXON Missense_R103S exm215889 2 99949559 [T/C] NM_005783 TXNDC9 EXON Missense_M39V exm215894 2 99949661 [T/C] NM_005783 TXNDC9 EXON Missense_A5T exm215903 2 99977004 [T/G] NM_015904 EIF5B EXON Missense_A80S exm215915 2 99977836 [A/G] NM_015904 EIF5B EXON Missense_N158D exm215921 2 99978074 [A/T] NM_015904 EIF5B EXON Missense_E237V exm215935 2 99980323 [A/G] NM_015904 EIF5B EXON Missense_E379K exm2031535 2 99985029 [A/G] NM_015904 EIF5B EXON Missense_I454M exm215947 2 99985866 [A/G] NM_015904 EIF5B EXON Missense_M467V exm215950 2 99985875 [T/C] NM_015904 EIF5B EXON Missense_C470R exm215951 2 99985946 [T/C] NM_015904 EIF5B Silent exm215954 2 99988139 [A/G] NM_015904 EIF5B EXON Missense_D500N exm215958 2 99992808 [A/G] NM_015904 EIF5B Silent exm215959 2 99992822 [A/C] NM_015904 EIF5B EXON Missense_K522T exm215969 2 99993019 [A/G] NM_015904 EIF5B EXON Missense_S588G exm215973 2 99993089 [A/G] NM_015904 EIF5B EXON Missense_R611Q exm215975 2 99995486 [A/G] NM_015904 EIF5B EXON Missense_R616Q exm215976 2 99995489 [A/G] NM_015904 EIF5B EXON Missense_R617Q exm215978 2 99995516 [A/C] NM_015904 EIF5B EXON Missense_T626N exm215991 2 99998641 [A/G] NM_015904 EIF5B EXON Missense_R694Q exm216006 2 100007037 [A/G] NM_015904 EIF5B EXON Missense_I873V exm216037 2 100019256 [T/A] NM_016316,NM_001037872 REV1,REV1 EXON Missense_L1131H,Missense_L1130H exm216047 2 100019431 [A/G] NM_016316,NM_001037872 REV1,REV1 EXON Missense_L1102P,Missense_L1101P exm216050 2 100019512 [T/A] NM_016316,NM_001037872 REV1,REV1 EXON Missense_K1075M,Missense_K1074M exm216051 2 100019558 [T/G] NM_016316,NM_001037872 REV1,REV1 EXON Missense_P1060T,Missense_P1059T exm216056 2 100020945 [T/C] NM_016316,NM_001037872 REV1,REV1 EXON Missense_A1003T,Missense_A1002T exm216058 2 100020978 [T/G] NM_016316,NM_001037872 REV1,REV1 EXON Missense_Q992K,Missense_Q991K exm216060 2 100021039 [T/G] NM_016316,NM_001037872 REV1,REV1 EXON Missense_K971N,Missense_K970N exm216061 2 100021050 [T/C] NM_016316,NM_001037872 REV1,REV1 EXON Missense_D968N,Missense_D967N exm216072 2 100022478 [T/G] NM_016316,NM_001037872 REV1,REV1 EXON Missense_P902H,Missense_P901H exm216073 2 100022479 [A/G] NM_016316,NM_001037872 REV1,REV1 EXON Missense_P902S,Missense_P901S exm216075 2 100022487 [A/G] NM_016316,NM_001037872 REV1,REV1 EXON Missense_P899L,Missense_P898L exm2235982 2 100029254 [T/C] NM_016316,NM_001037872 REV1,REV1 EXON Missense_R704Q,Missense_R703Q exm216106 2 100029396 [T/C] NM_016316,NM_001037872 REV1,REV1 EXON Missense_E657K,Missense_E656K exm216130 2 100046395 [A/G] NM_016316,NM_001037872 REV1,REV1 EXON Missense_S485L,Missense_S484L exm216137 2 100050895 [A/C] NM_016316,NM_001037872 REV1,REV1 EXON Missense_V446G,Missense_V446G exm1973585 2 100052398 [T/G] NM_016316,NM_001037872 REV1,REV1 EXON Missense_M407L,Missense_M407L exm216147 2 100055158 [T/C] NM_016316,NM_001037872 REV1,REV1 EXON Missense_N373S,Missense_N373S exm216151 2 100055273 [T/C] NM_016316,NM_001037872 REV1,REV1 EXON Missense_A335T,Missense_A335T exm216164 2 100055506 [A/G] NM_016316,NM_001037872 REV1,REV1 EXON Missense_F257S,Missense_F257S exm216169 2 100055614 [T/C] NM_016316,NM_001037872 REV1,REV1 EXON Missense_S221N,Missense_S221N exm216183 2 100058870 [T/C] NM_016316,NM_001037872 REV1,REV1 EXON Missense_V138M,Missense_V138M exm216191 2 100079038 [T/C] NM_016316,NM_001037872 REV1,REV1 EXON Missense_R34Q,Missense_R34Q exm216198 2 100081415 [T/C] NM_016316,NM_001037872 REV1,REV1 EXON Missense_K8R,Missense_K8R exm216201 2 100167950 [T/C] NM_002285,NM_001025108 AFF3,AFF3 EXON Missense_A1223T,Missense_A1248T exm216207 2 100170775 [T/C] NM_002285,NM_001025108 AFF3,AFF3 EXON Missense_R1186Q,Missense_R1211Q exm2254418 2 100170900 [T/C] NM_002285,NM_001025108 AFF3,AFF3 EXON Synonymous_P1144P,Synonymous_P1169P exm2260972 2 100190049 [A/C] NM_002285,NM_001025108 AFF3,AFF3 Silent,Silent exm216229 2 100194825 [T/C] NM_002285,NM_001025108 AFF3,AFF3 EXON Missense_R961K,Missense_R986K exm216234 2 100194846 [C/G] NM_002285,NM_001025108 AFF3,AFF3 EXON Missense_S954C,Missense_S979C exm216245 2 100199295 [T/C] NM_002285,NM_001025108 AFF3,AFF3 EXON Missense_D920N,Missense_D945N exm216246 2 100199339 [T/C] NM_002285,NM_001025108 AFF3,AFF3 EXON Missense_N905S,Missense_N930S exm216247 2 100199386 [T/G] NM_002285,NM_001025108 AFF3,AFF3 EXON Missense_H889Q,Missense_H914Q exm216263 2 100209752 [T/C] NM_002285,NM_001025108 AFF3,AFF3 EXON Missense_A791T,Missense_A816T exm216274 2 100209973 [T/C] NM_002285,NM_001025108 AFF3,AFF3 EXON Missense_S717N,Missense_S742N exm216276 2 100209989 [T/C] NM_002285,NM_001025108 AFF3,AFF3 EXON Missense_A712T,Missense_A737T exm216314 2 100210625 [A/C] NM_002285,NM_001025108 AFF3,AFF3 EXON Missense_V500L,Missense_V525L exm216315 2 100210642 [T/C] NM_002285,NM_001025108 AFF3,AFF3 EXON Missense_N494S,Missense_N519S exm2265177 2 100250011 [A/G] NM_002285,NM_001025108 AFF3,AFF3 Silent,Silent exm216335 2 100343557 [T/C] NM_002285,NM_001025108 AFF3,AFF3 EXON Missense_S358N,Missense_S383N exm216345 2 100453940 [T/C] NM_002285,NM_001025108 AFF3,AFF3 EXON Missense_R307Q,Missense_R332Q exm1973664 2 100453973 [T/C] NM_002285,NM_001025108 AFF3,AFF3 EXON Missense_G296E,Missense_G321E exm216367 2 100623395 [A/G] NM_002285,NM_001025108 AFF3,AFF3 EXON Missense_V191A,Missense_V216A exm216369 2 100623404 [T/C] NM_002285,NM_001025108 AFF3,AFF3 EXON Missense_N188S,Missense_N213S exm2254420 2 100686486 [T/C] NM_002285,NM_001025108 AFF3,AFF3 Silent,Silent exm-rs9653442 2 100825367 [T/C] exm-rs10865035 2 100835734 [A/G] exm216404 2 100900836 [T/C] NM_198461 LONRF2 EXON Missense_R730Q exm216415 2 100903495 [T/C] NM_198461 LONRF2 EXON Missense_A651T exm216425 2 100910695 [T/C] NM_198461 LONRF2 EXON Missense_A585T exm2235990 2 100910814 [A/G] NM_198461 LONRF2 EXON Missense_M545T exm216435 2 100915330 [T/G] NM_198461 LONRF2 EXON Missense_H482N exm216439 2 100915736 [T/G] NM_198461 LONRF2 EXON Missense_Q438P exm216440 2 100915772 [A/G] NM_198461 LONRF2 EXON Missense_L426P exm216442 2 100916221 [C/G] NM_198461 LONRF2 EXON Missense_D409H exm216448 2 100916269 [T/C] NM_198461 LONRF2 EXON Missense_T393A exm216456 2 100919460 [T/C] NM_198461 LONRF2 EXON Missense_K282E exm216490 2 101009789 [T/C] NM_004854 CHST10 EXON Missense_R330Q exm216494 2 101009838 [T/C] NM_004854 CHST10 EXON Missense_V314M exm216498 2 101009870 [A/G] NM_004854 CHST10 EXON Missense_V303A exm216501 2 101009950 [T/C] NM_004854 CHST10 EXON Missense_M276I exm216508 2 101010080 [T/C] NM_004854 CHST10 EXON Missense_R233Q exm2273811 2 101010098 [T/C] NM_004854 CHST10 EXON Missense_R227K exm216515 2 101011971 [T/C] NM_004854 CHST10 EXON Missense_R178Q exm216516 2 101011986 [A/G] NM_004854 CHST10 EXON Missense_A173V exm216519 2 101012041 [T/C] NM_004854 CHST10 EXON Missense_V155M exm216521 2 101012068 [A/G] NM_004854 CHST10 EXON Missense_S146P exm216524 2 101014486 [C/G] NM_004854 CHST10 EXON Missense_P104R exm216527 2 101014527 [T/G] NM_004854 CHST10 EXON Missense_N90K exm216532 2 101019117 [A/G] NM_004854 CHST10 EXON Missense_V34A exm216536 2 101023070 [T/G] NM_004854 CHST10 EXON Missense_K23T exm216537 2 101023080 [A/C] NM_004854 CHST10 EXON Missense_V20L exm216539 2 101023110 [T/C] NM_004854 CHST10 EXON Missense_A10T exm2265338 2 101031865 [A/G] NM_004854 CHST10 Silent exm216544 2 101086951 [A/G] NM_001011717 NMS EXON Missense_M1V exm216545 2 101086952 [T/C] NM_001011717 NMS EXON Missense_M1T exm216546 2 101086966 [T/C] NM_001011717 NMS EXON Missense_P6S exm1973749 2 101093729 [T/G] NM_001011717 NMS EXON Missense_R69S exm216563 2 101096958 [A/G] NM_001011717 NMS EXON Missense_G113S exm216575 2 101097609 [T/C] NM_001011717 NMS EXON Nonsense_R132X exm216576 2 101097618 [T/C] NM_001011717 NMS EXON Missense_F135L exm216608 2 101186041 [T/C] NM_024065 PDCL3 EXON Missense_R76W exm216612 2 101186138 [A/G] NM_024065 PDCL3 EXON Missense_K108R exm216616 2 101186179 [T/C] NM_024065 PDCL3 EXON Nonsense_Q122X exm216631 2 101188227 [G/C] NM_024065 PDCL3 EXON Missense_L182V exm216634 2 101192824 [T/C] NM_024065 PDCL3 EXON Missense_W196R exm2269107 2 101321822 [T/C] exm2269300 2 101449302 [T/G] NM_002518 NPAS2 Silent exm-rs13012765 2 101498174 [T/C] NM_002518 NPAS2 Silent exm216657 2 101541736 [G/C] NM_002518 NPAS2 EXON Missense_G54A exm2269108 2 101566070 [T/C] NM_002518 NPAS2 Silent exm216676 2 101580552 [A/G] NM_002518 NPAS2 EXON Missense_T211A exm216692 2 101587466 [A/G] NM_002518 NPAS2 EXON Missense_R357Q exm216697 2 101591290 [A/G] NM_002518 NPAS2 EXON Missense_R389Q exm216700 2 101591304 [A/G] NM_002518 NPAS2 EXON Missense_T394A exm216704 2 101591340 [G/C] NM_002518 NPAS2 EXON Missense_H406D exm216720 2 101594191 [T/C] NM_002518 NPAS2 EXON Missense_S471L exm216738 2 101604635 [T/C] NM_002518 NPAS2 EXON Missense_T575I exm216745 2 101606764 [A/G] NM_002518 NPAS2 EXON Missense_R625H exm216757 2 101607291 [A/G] NM_002518 NPAS2 EXON Missense_A690T exm216778 2 101611997 [T/G] NM_002518 NPAS2 EXON Missense_V810F exm216780 2 101612034 [T/C] NM_002518 NPAS2 EXON Missense_P822L exm216794 2 101622522 [A/C] NM_001098577,NM_001099693,NM_000993 RPL31,RPL31,RPL31 EXON Missense_T112N,Missense_T112N,Missense_T112N exm1973859 2 101624384 [T/C] NM_001098577,NM_001102426 RPL31,TBC1D8 EXON Silent,Missense_M1108V exm216805 2 101624420 [G/C] NM_001098577,NM_001102426 RPL31,TBC1D8 EXON Silent,Missense_Q1096E exm216807 2 101624471 [T/C] NM_001098577,NM_001102426 RPL31,TBC1D8 EXON Silent,Missense_R1079G exm216813 2 101624509 [A/G] NM_001098577,NM_001102426 RPL31,TBC1D8 EXON Silent,Missense_T1066M exm216822 2 101627454 [A/C] NM_001098577,NM_001102426 RPL31,TBC1D8 EXON Silent,Missense_Q969H exm216823 2 101627915 [T/C] NM_001098577,NM_001102426 RPL31,TBC1D8 EXON Silent,Missense_N957S exm216825 2 101627925 [T/C] NM_001098577,NM_001102426 RPL31,TBC1D8 EXON Silent,Missense_G954R exm216835 2 101638744 [A/G] NM_001102426 TBC1D8 EXON Synonymous_L905L exm216838 2 101638778 [T/G] NM_001102426 TBC1D8 EXON Missense_Q894P exm2254425 2 101638816 [A/G] NM_001102426 TBC1D8 EXON Synonymous_A881A exm-rs3739014 2 101638888 [A/G] NM_001102426 TBC1D8 EXON Synonymous_D857D exm2236001 2 101643856 [T/C] NM_001102426 TBC1D8 EXON Missense_D822N exm216852 2 101643904 [C/G] NM_001102426 TBC1D8 EXON Missense_V806L exm216857 2 101644566 [A/G] NM_001102426 TBC1D8 EXON Missense_Y784H exm2273812 2 101644769 [T/C] NM_001102426 TBC1D8 EXON Missense_Y768C exm216860 2 101644779 [G/C] NM_001102426 TBC1D8 EXON Missense_R765G exm216874 2 101646143 [T/C] NM_001102426 TBC1D8 EXON Missense_V663I exm216887 2 101650092 [T/C] NM_001102426 TBC1D8 EXON Missense_A563T exm216896 2 101652557 [T/C] NM_001102426 TBC1D8 EXON Missense_R494H exm216901 2 101654056 [A/G] NM_001102426 TBC1D8 EXON Missense_H449Y exm216902 2 101654089 [T/C] NM_001102426 TBC1D8 EXON Missense_E438K exm1973909 2 101654110 [T/C] NM_001102426 TBC1D8 EXON Missense_M431V exm216905 2 101654161 [T/C] NM_001102426 TBC1D8 EXON Missense_V414M exm216907 2 101654169 [C/G] NM_001102426 TBC1D8 EXON Missense_A411G exm216914 2 101655021 [A/G] NM_001102426 TBC1D8 EXON Missense_R378W exm216925 2 101656726 [T/C] NM_001102426 TBC1D8 EXON Missense_T317A exm216934 2 101666919 [A/T] NM_001102426 TBC1D8 EXON Missense_D257E exm216936 2 101666993 [T/C] NM_001102426 TBC1D8 EXON Missense_M233V exm-rs2278729 2 101668857 [A/G] NM_001102426 TBC1D8 Silent exm216944 2 101670689 [A/G] NM_001102426 TBC1D8 EXON Missense_A156V exm216946 2 101670762 [T/C] NM_001102426 TBC1D8 EXON Missense_E132K exm216958 2 101706787 [T/C] NM_001102426 TBC1D8 EXON Missense_N56S exm1973930 2 101869911 [T/G] NM_017546 CNOT11 EXON Missense_G162V exm216989 2 101874342 [T/C] NM_017546 CNOT11 EXON Missense_R202C exm216995 2 101879106 [T/C] NM_017546 CNOT11 EXON Missense_S262F exm1973943 2 101881399 [A/G] NM_017546 CNOT11 EXON Missense_A309T exm217000 2 101881400 [T/C] NM_017546 CNOT11 EXON Missense_A309V exm217028 2 101898412 [G/C] NM_173647 RNF149 EXON Missense_D356E exm217034 2 101910476 [T/C] NM_173647 RNF149 EXON Synonymous_K260K exm217043 2 101911488 [T/C] NM_173647 RNF149 EXON Missense_I206V exm217047 2 101911556 [A/G] NM_173647 RNF149 EXON Missense_M183T exm217050 2 101911630 [T/C] NM_173647 RNF149 EXON Missense_I158M exm-rs6711606 2 101922170 [T/G] NM_173647 RNF149 Silent exm217055 2 101924635 [T/C] NM_173647 RNF149 EXON Missense_N139S exm217075 2 101967396 [T/C] NM_153836 CREG2 EXON Missense_R288G exm217079 2 101967506 [T/C] NM_153836 CREG2 EXON Missense_R251H exm217081 2 101971731 [T/G] NM_153836 CREG2 EXON Missense_Q237K exm217084 2 101971794 [A/C] NM_153836 CREG2 EXON Missense_V216F exm217085 2 101971818 [T/C] NM_153836 CREG2 EXON Missense_V208I exm217087 2 101999995 [G/C] NM_153836 CREG2 EXON Missense_R204T exm217091 2 102000131 [T/C] NM_153836 CREG2 EXON Missense_V159I exm217109 2 102018907 [T/C] NM_001145664 RFX8 EXON Missense_M412I exm217110 2 102018908 [A/G] NM_001145664 RFX8 EXON Missense_M412T exm217111 2 102018938 [T/C] NM_001145664 RFX8 EXON Missense_R402K exm217116 2 102019083 [T/C] NM_001145664 RFX8 EXON Missense_G354S exm217117 2 102019129 [T/C] NM_001145664 RFX8 EXON Synonymous_E338E exm217130 2 102031324 [T/G] NM_001145664 RFX8 EXON Missense_M185L exm217132 2 102031351 [C/G] NM_001145664 RFX8 EXON Missense_L176V exm217136 2 102034017 [A/C] NM_001145664 RFX8 EXON Missense_L161V exm217138 2 102034124 [T/C] NM_001145664 RFX8 EXON Missense_H125R exm217139 2 102035359 [A/G] NM_001145664 RFX8 EXON Missense_P102L exm217142 2 102038824 [T/C] NM_001145664 RFX8 EXON Missense_M61I exm217144 2 102038837 [T/A] NM_001145664 RFX8 EXON Missense_Y57F exm217145 2 102038849 [T/A] NM_001145664 RFX8 EXON Missense_Q53L exm217149 2 102038936 [T/G] NM_001145664 RFX8 Silent exm217150 2 102083255 [A/G] NM_001145664 RFX8 EXON Missense_P19L exm2254428 2 102302978 [T/C] exm2269301 2 102412586 [T/C] NM_004834,NM_001242560,NM_145686,NM_145687,NM_001242559 MAP4K4,MAP4K4,MAP4K4,MAP4K4,MAP4K4 Silent,Silent,Silent,Silent,Silent exm217186 2 102440413 [A/G] NM_004834,NM_001242560,NM_145686,NM_145687,NM_001242559 MAP4K4,MAP4K4,MAP4K4,MAP4K4,MAP4K4 EXON Synonymous_L68L,Synonymous_L68L,Synonymous_L68L,Synonymous_L68L,Synonymous_L68L exm217187 2 102440464 [T/C] NM_004834,NM_001242560,NM_145686,NM_145687,NM_001242559 MAP4K4,MAP4K4,MAP4K4,MAP4K4,MAP4K4 EXON Synonymous_Y85Y,Synonymous_Y85Y,Synonymous_Y85Y,Synonymous_Y85Y,Synonymous_Y85Y exm217206 2 102472459 [A/G] NM_004834,NM_001242560,NM_145686,NM_145687,NM_001242559 MAP4K4,MAP4K4,MAP4K4,MAP4K4,MAP4K4 EXON Synonymous_E418E,Synonymous_E418E,Synonymous_E418E,Synonymous_E418E,Synonymous_E418E exm217209 2 102475463 [T/C] NM_004834,NM_001242560,NM_145686,NM_145687,NM_001242559 MAP4K4,MAP4K4,MAP4K4,MAP4K4,MAP4K4 EXON Synonymous_Y467Y,Synonymous_Y467Y,Synonymous_Y467Y,Synonymous_Y467Y,Synonymous_Y467Y exm217210 2 102475514 [A/G] NM_004834,NM_001242560,NM_145686,NM_145687,NM_001242559 MAP4K4,MAP4K4,MAP4K4,MAP4K4,MAP4K4 EXON Synonymous_Q484Q,Synonymous_Q484Q,Synonymous_Q484Q,Synonymous_Q484Q,Synonymous_Q484Q exm217215 2 102476215 [A/G] NM_004834,NM_001242560,NM_145686,NM_145687,NM_001242559 MAP4K4,MAP4K4,MAP4K4,MAP4K4,MAP4K4 EXON Synonymous_P500P,Synonymous_P500P,Synonymous_P500P,Synonymous_P500P,Synonymous_P531P exm217217 2 102476220 [T/C] NM_004834,NM_001242560,NM_145686,NM_145687,NM_001242559 MAP4K4,MAP4K4,MAP4K4,MAP4K4,MAP4K4 EXON Missense_P502L,Missense_P502L,Missense_P502L,Missense_P502L,Missense_P533L exm217218 2 102476221 [A/G] NM_004834,NM_001242560,NM_145686,NM_145687,NM_001242559 MAP4K4,MAP4K4,MAP4K4,MAP4K4,MAP4K4 EXON Synonymous_P502P,Synonymous_P502P,Synonymous_P502P,Synonymous_P502P,Synonymous_P533P exm217247 2 102482936 [C/G] NM_004834,NM_001242560,NM_145686,NM_145687,NM_001242559 MAP4K4,MAP4K4,MAP4K4,MAP4K4,MAP4K4 EXON Missense_P588A,Missense_P666A,Missense_P643A,Missense_P643A,Missense_P673A exm217249 2 102482998 [T/C] NM_004834,NM_001242560,NM_145686,NM_145687,NM_001242559 MAP4K4,MAP4K4,MAP4K4,MAP4K4,MAP4K4 EXON Synonymous_H608H,Synonymous_H686H,Synonymous_H663H,Synonymous_H663H,Synonymous_H693H exm217252 2 102486093 [T/G] NM_004834,NM_001242560,NM_145686,NM_145687,NM_001242559 MAP4K4,MAP4K4,MAP4K4,MAP4K4,MAP4K4 EXON Missense_A662S,Missense_A740S,Missense_A714S,Missense_A717S,Missense_A744S exm217263 2 102486824 [A/G] NM_004834,NM_001242560,NM_145686,NM_145687,NM_001242559 MAP4K4,MAP4K4,MAP4K4,MAP4K4,MAP4K4 EXON Missense_E740K,Missense_E818K,Missense_E792K,Missense_E795K,Missense_E822K exm217264 2 102486847 [A/G] NM_004834,NM_001242560,NM_145686,NM_145687,NM_001242559 MAP4K4,MAP4K4,MAP4K4,MAP4K4,MAP4K4 EXON Synonymous_P747P,Synonymous_P825P,Synonymous_P799P,Synonymous_P802P,Synonymous_P829P exm217279 2 102493546 [A/G] NM_004834,NM_001242560,NM_145686,NM_145687,NM_001242559 MAP4K4,MAP4K4,MAP4K4,MAP4K4,MAP4K4 EXON Missense_N881S,Missense_N959S,Missense_N997S,Missense_N936S,Missense_N963S exm217291 2 102504371 [A/G] NM_004834,NM_001242560,NM_145686,NM_145687,NM_001242559 MAP4K4,MAP4K4,MAP4K4,MAP4K4,MAP4K4 EXON Synonymous_L1082L,Synonymous_L1152L,Synonymous_L1190L,Synonymous_L1129L,Synonymous_L1156L exm217292 2 102505259 [A/G] NM_004834,NM_001242560,NM_145686,NM_145687,NM_001242559 MAP4K4,MAP4K4,MAP4K4,MAP4K4,MAP4K4 EXON Synonymous_A1092A,Synonymous_A1162A,Synonymous_A1200A,Synonymous_A1139A,Synonymous_A1166A exm1974031 2 102625062 [A/G] NM_001261419,NM_004633,NR_048564 IL1R2,IL1R2,IL1R2 EXON Missense_M9V,Missense_M9V,Silent exm217299 2 102625068 [A/G] NM_001261419,NM_004633,NR_048564 IL1R2,IL1R2,IL1R2 EXON Missense_V11I,Missense_V11I,Silent exm217302 2 102626054 [A/G] NM_001261419,NM_004633,NR_048564 IL1R2,IL1R2,IL1R2 EXON Missense_R33K,Missense_R33K,Silent exm217303 2 102626065 [T/C] NM_001261419,NM_004633,NR_048564 IL1R2,IL1R2,IL1R2 EXON Missense_R37W,Missense_R37W,Silent exm217305 2 102626142 [C/G] NM_001261419,NM_004633,NR_048564 IL1R2,IL1R2,IL1R2 EXON Missense_S62R,Missense_S62R,Silent exm217320 2 102632416 [T/C] NM_001261419,NM_004633,NR_048564 IL1R2,IL1R2,IL1R2 EXON Missense_P139L,Missense_P139L,Silent exm217325 2 102632488 [T/C] NM_001261419,NM_004633,NR_048564 IL1R2,IL1R2,IL1R2 EXON Missense_T163I,Missense_T163I,Silent exm217335 2 102636127 [A/G] NM_001261419,NM_004633,NR_048564 IL1R2,IL1R2,IL1R2 EXON Missense_E181K,Missense_E181K,Silent exm217345 2 102636247 [A/G] NM_001261419,NM_004633,NR_048564 IL1R2,IL1R2,IL1R2 EXON Missense_T221A,Missense_T221A,Silent exm217347 2 102636265 [T/C] NM_001261419,NM_004633,NR_048564 IL1R2,IL1R2,IL1R2 EXON Missense_R227C,Missense_R227C,Silent exm217359 2 102638698 [A/G] NM_001261419,NM_004633,NR_048564 IL1R2,IL1R2,IL1R2 EXON Missense_I246M,Missense_I246M,Silent exm217373 2 102641099 [T/C] NM_001261419,NM_004633,NR_048564 IL1R2,IL1R2,IL1R2 EXON Missense_P286S,Missense_P286S,Silent exm1974052 2 102641117 [A/G] NM_001261419,NM_004633,NR_048564 IL1R2,IL1R2,IL1R2 EXON Missense_E292K,Missense_E292K,Silent exm217383 2 102642617 [T/C] NM_004633,NR_048564 IL1R2,IL1R2 EXON Missense_I311T,Silent exm217387 2 102642670 [T/C] NM_004633,NR_048564 IL1R2,IL1R2 EXON Missense_H329Y,Silent exm217388 2 102642697 [T/C] NM_004633,NR_048564 IL1R2,IL1R2 EXON Missense_R338C,Silent exm217394 2 102644771 [T/C] NM_004633,NR_048564 IL1R2,IL1R2 EXON Missense_R372W,Silent exm-rs2310173 2 102663628 [T/G] exm2254430 2 102683386 [T/C] exm217405 2 102781253 [A/C] NM_000877 IL1R1 EXON Missense_E27D exm217415 2 102781649 [G/C] NM_000877 IL1R1 EXON Missense_A124G exm217422 2 102782690 [T/C] NM_000877 IL1R1 EXON Missense_Y202H exm217427 2 102785064 [A/G] NM_000877 IL1R1 EXON Missense_N221S exm217444 2 102791086 [T/C] NM_000877 IL1R1 EXON Missense_T344M exm2236011 2 102791184 [T/A] NM_000877 IL1R1 EXON Missense_I377L exm217448 2 102791994 [A/G] NM_000877 IL1R1 EXON Missense_G398R exm217463 2 102792951 [A/C] NM_000877 IL1R1 EXON Missense_D481A exm217465 2 102793001 [A/G] NM_000877 IL1R1 EXON Missense_K498E exm217466 2 102793038 [A/G] NM_000877 IL1R1 EXON Missense_H510R exm1974089 2 102804330 [C/G] NM_003854 IL1RL2 EXON Missense_M1I exm217493 2 102808414 [T/A] NM_003854 IL1RL2 EXON Missense_V108E exm217497 2 102808527 [T/G] NM_003854 IL1RL2 EXON Missense_C146G exm217498 2 102808560 [A/G] NM_003854 IL1RL2 EXON Missense_G157S exm217502 2 102818083 [T/C] NM_003854 IL1RL2 EXON Missense_S186L exm217506 2 102818133 [T/G] NM_003854 IL1RL2 EXON Missense_G203W exm217507 2 102828597 [G/C] NM_003854 IL1RL2 EXON Missense_I229M exm217508 2 102828620 [T/C] NM_003854 IL1RL2 EXON Missense_I237T exm217511 2 102835479 [A/G] NM_003854 IL1RL2 EXON Missense_R264K exm217516 2 102836357 [T/C] NM_003854 IL1RL2 EXON Missense_R291W exm217518 2 102836364 [A/G] NM_003854 IL1RL2 EXON Missense_H293R exm217530 2 102842420 [A/G] NM_003854 IL1RL2 EXON Missense_V352I exm217532 2 102842430 [T/C] NM_003854 IL1RL2 EXON Missense_I355T exm2236015 2 102842463 [A/G] NM_003854 IL1RL2 EXON Nonsense_W366X exm-rs2302620 2 102842467 [T/C] NM_003854 IL1RL2 EXON Synonymous_Y367Y exm217551 2 102851470 [A/G] NM_003854 IL1RL2 EXON Missense_A471T exm217557 2 102851588 [T/C] NM_003854 IL1RL2 EXON Missense_A510V exm217561 2 102851671 [T/C] NM_003854 IL1RL2 EXON Missense_P538S exm217564 2 102851708 [T/C] NM_003854 IL1RL2 EXON Missense_L550P exm217567 2 102851729 [A/G] NM_003854 IL1RL2 EXON Missense_R557H exm2254432 2 102855680 [A/G] NM_003854 IL1RL2 EXON Synonymous_K569K exm217572 2 102855680 [A/G] NM_003854 IL1RL2 EXON Synonymous_K569K exm217580 2 102954743 [T/G] NM_016232,NM_003856 IL1RL1,IL1RL1 EXON Missense_A7S,Missense_A7S exm217588 2 102955408 [T/C] NM_016232,NM_003856 IL1RL1,IL1RL1 EXON Missense_P58L,Missense_P58L exm217590 2 102955425 [T/C] NM_016232,NM_003856 IL1RL1,IL1RL1 EXON Missense_R64C,Missense_R64C exm217591 2 102955468 [A/C] NM_016232,NM_003856 IL1RL1,IL1RL1 EXON Missense_A78E,Missense_A78E exm217592 2 102955474 [T/C] NM_016232,NM_003856 IL1RL1,IL1RL1 EXON Missense_A80V,Missense_A80V exm217597 2 102956598 [T/C] NM_016232,NM_003856 IL1RL1,IL1RL1 EXON Missense_Y105H,Missense_Y105H exm217599 2 102956692 [T/A] NM_016232,NM_003856 IL1RL1,IL1RL1 EXON Missense_I136N,Missense_I136N exm217602 2 102957136 [T/C] NM_016232,NM_003856 IL1RL1,IL1RL1 EXON Missense_A153V,Missense_A153V exm217606 2 102957204 [A/G] NM_016232,NM_003856 IL1RL1,IL1RL1 EXON Missense_A176T,Missense_A176T exm217607 2 102957217 [T/C] NM_016232,NM_003856 IL1RL1,IL1RL1 EXON Missense_T180I,Missense_T180I exm-rs1420101 2 102957716 [T/C] NM_016232,NM_003856 IL1RL1,IL1RL1 Silent,Silent exm217620 2 102958715 [A/G] NM_016232,NM_003856 IL1RL1,IL1RL1 EXON Missense_G215R,Missense_G215R exm217621 2 102958718 [A/G] NM_016232,NM_003856 IL1RL1,IL1RL1 EXON Missense_A216T,Missense_A216T exm217633 2 102959809 [A/G] NM_016232,NM_003856 IL1RL1,IL1RL1 EXON Missense_D302N,Missense_D302N exm217637 2 102964419 [A/G] NM_016232 IL1RL1 EXON Missense_I329V exm217638 2 102964490 [A/G] NM_016232 IL1RL1 EXON Missense_M352I exm217642 2 102965607 [T/C] NM_016232 IL1RL1 EXON Missense_R396C exm217643 2 102965608 [A/G] NM_016232 IL1RL1 EXON Missense_R396H exm217644 2 102965611 [T/C] NM_016232 IL1RL1 EXON Missense_V397A exm217645 2 102965653 [A/C] NM_016232 IL1RL1 EXON Missense_N411T exm217648 2 102968007 [A/G] NM_016232 IL1RL1 EXON Missense_A433T exm217650 2 102968026 [A/G] NM_016232 IL1RL1 EXON Missense_R439Q exm217655 2 102968115 [A/G] NM_016232 IL1RL1 EXON Missense_A469T exm217660 2 102968159 [C/G] NM_016232 IL1RL1 EXON Missense_E483D exm1974159 2 102968211 [A/C] NM_016232 IL1RL1 EXON Missense_Q501K exm217668 2 102968266 [T/A] NM_016232 IL1RL1 EXON Missense_N519I exm217672 2 102968356 [T/C] NM_016232 IL1RL1 EXON Missense_T549I exm217673 2 102968362 [T/C] NM_016232 IL1RL1 EXON Missense_L551S exm-rs13015714 2 102971865 [T/G] exm217696 2 102988526 [T/C] NM_003855 IL18R1 EXON Missense_T139I exm217698 2 102992407 [T/C] NM_003855 IL18R1 EXON Missense_T170M exm2236020 2 102998082 [T/C] NM_003855 IL18R1 EXON Missense_R210C exm217702 2 102998083 [A/G] NM_003855 IL18R1 EXON Missense_R210H exm1974174 2 103001346 [A/G] NM_003855 IL18R1 EXON Missense_V233I exm1974181 2 103006654 [T/C] NM_003855 IL18R1 EXON Missense_T363M exm2236022 2 103011084 [A/G] NM_003855 IL18R1 EXON Missense_G423R exm217732 2 103013234 [A/C] NM_003855 IL18R1 EXON Missense_S505Y exm217752 2 103040399 [A/G] NM_003853 IL18RAP EXON Missense_V67I exm217762 2 103040702 [A/G] NM_003853 IL18RAP EXON Missense_D136G exm217768 2 103040785 [T/G] NM_003853 IL18RAP EXON Missense_D164Y exm217770 2 103040858 [T/C] NM_003853 IL18RAP EXON Missense_A188V exm-rs2058660 2 103054449 [A/G] NM_003853 IL18RAP Silent exm217784 2 103059777 [T/C] NM_003853 IL18RAP EXON Missense_A305V exm217790 2 103061776 [A/G] NM_003853 IL18RAP EXON Missense_V350I exm217794 2 103063608 [A/G] NM_003853 IL18RAP EXON Missense_H384R exm2254433 2 103066858 [A/G] NM_003853 IL18RAP Silent exm217798 2 103067379 [A/C] NM_003853 IL18RAP EXON Missense_L428M exm217799 2 103067380 [A/T] NM_003853 IL18RAP EXON Missense_L428Q exm217811 2 103068382 [A/T] NM_003853 IL18RAP EXON Missense_F514Y exm217813 2 103068420 [T/G] NM_003853 IL18RAP EXON Missense_V527L exm217816 2 103068513 [T/C] NM_003853 IL18RAP EXON Missense_H558Y exm-rs917997 2 103070568 [T/C] exm217823 2 103090237 [A/G] NM_001011552 SLC9A4 EXON Missense_V7M exm217825 2 103090268 [T/C] NM_001011552 SLC9A4 EXON Missense_L17P exm217832 2 103090405 [G/C] NM_001011552 SLC9A4 EXON Missense_D63H exm-rs17027258 2 103091540 [A/G] NM_001011552 SLC9A4 Silent exm217845 2 103095387 [A/G] NM_001011552 SLC9A4 EXON Missense_G116S exm217851 2 103095465 [T/G] NM_001011552 SLC9A4 EXON Missense_G142C exm217869 2 103095699 [A/G] NM_001011552 SLC9A4 EXON Missense_V220M exm1974227 2 103120033 [A/G] NM_001011552 SLC9A4 EXON Missense_V283I exm217882 2 103120040 [T/G] NM_001011552 SLC9A4 EXON Missense_G285V exm217892 2 103121783 [A/G] NM_001011552 SLC9A4 EXON Missense_I351V exm1974242 2 103125391 [A/G] NM_001011552 SLC9A4 EXON Missense_R496H exm2236027 2 103130620 [T/C] NM_001011552 SLC9A4 EXON Missense_V544A exm217920 2 103136337 [A/G] NM_001011552 SLC9A4 EXON Missense_I581V exm217921 2 103136350 [T/C] NM_001011552 SLC9A4 EXON Missense_S585F exm217924 2 103136407 [A/G] NM_001011552 SLC9A4 EXON Missense_R604Q exm217928 2 103141484 [A/C] NM_001011552 SLC9A4 EXON Missense_T607N exm217930 2 103141520 [C/G] NM_001011552 SLC9A4 EXON Missense_T619R exm217935 2 103141573 [T/G] NM_001011552 SLC9A4 EXON Nonsense_E637X exm217936 2 103141583 [A/G] NM_001011552 SLC9A4 EXON Missense_R640K exm217945 2 103142757 [A/G] NM_001011552 SLC9A4 EXON Missense_G664R exm217946 2 103142761 [T/A] NM_001011552 SLC9A4 EXON Missense_N665I exm217947 2 103142785 [T/C] NM_001011552 SLC9A4 EXON Missense_T673I exm217956 2 103148942 [T/C] NM_001011552 SLC9A4 EXON Missense_T731I exm217957 2 103148968 [A/G] NM_001011552 SLC9A4 EXON Missense_V740I exm217966 2 103149100 [A/G] NM_001011552 SLC9A4 EXON Missense_G784S exm217972 2 103236354 [T/C] NM_003048 SLC9A2 EXON Missense_P16L exm217987 2 103274193 [A/G] NM_003048 SLC9A2 EXON Missense_G154S exm217999 2 103281610 [A/G] NM_003048 SLC9A2 EXON Missense_I269V exm218017 2 103300737 [A/G] NM_003048 SLC9A2 EXON Missense_R456Q exm2236031 2 103317557 [T/C] NM_003048 SLC9A2 EXON Missense_R539W exm218025 2 103317649 [T/G] NM_003048 SLC9A2 EXON Missense_E569D exm218040 2 103321124 [A/G] NM_003048 SLC9A2 EXON Missense_R656Q exm218052 2 103324820 [A/G] NM_003048 SLC9A2 EXON Missense_D771N exm218058 2 103324937 [G/C] NM_003048 SLC9A2 EXON Missense_E810Q exm218063 2 103334920 [T/G] NM_032718 MFSD9 EXON Missense_H462N exm218072 2 103334983 [G/C] NM_032718 MFSD9 EXON Missense_P441A exm218076 2 103335028 [T/C] NM_032718 MFSD9 EXON Missense_A426T exm218083 2 103335178 [T/C] NM_032718 MFSD9 EXON Missense_A376T exm218090 2 103335304 [T/C] NM_032718 MFSD9 EXON Missense_V334M exm218091 2 103335354 [T/C] NM_032718 MFSD9 EXON Missense_R317Q exm218095 2 103335441 [A/G] NM_032718 MFSD9 EXON Missense_I288T exm218107 2 103335540 [T/C] NM_032718 MFSD9 EXON Missense_R255H exm218115 2 103340165 [T/C] NM_032718 MFSD9 EXON Missense_N211D exm218118 2 103340233 [A/C] NM_032718 MFSD9 EXON Missense_G188V exm218123 2 103340288 [T/C] NM_032718 MFSD9 EXON Missense_G170R exm218127 2 103340303 [A/G] NM_032718 MFSD9 EXON Missense_R165W exm218129 2 103340327 [A/G] NM_032718 MFSD9 EXON Missense_S157P exm218130 2 103340345 [T/C] NM_032718 MFSD9 EXON Missense_I151V exm218131 2 103340351 [G/C] NM_032718 MFSD9 EXON Missense_L149V exm218137 2 103343339 [T/C] NM_032718 MFSD9 EXON Missense_N131S exm218138 2 103343346 [A/C] NM_032718 MFSD9 EXON Missense_A129S exm218144 2 103343425 [T/C] NM_032718 MFSD9 EXON Nonsense_W102X exm218158 2 103353194 [A/G] NM_032718 MFSD9 EXON Nonsense_Q26X exm218159 2 103353252 [T/G] NM_032718 MFSD9 EXON Missense_H6Q exm218176 2 103379144 [T/C] NM_144632 TMEM182 EXON Synonymous_Y77Y exm218182 2 103380853 [A/G] NM_144632 TMEM182 EXON Missense_E100K exm218185 2 103414378 [A/G] NM_144632 TMEM182 EXON Missense_A130T exm218192 2 103431253 [C/G] NM_144632 TMEM182 EXON Missense_Q172H exm218196 2 103431404 [T/C] NM_144632 TMEM182 EXON Missense_W223R exm2254434 2 103524931 [A/C] exm2260977 2 103593540 [T/C] exm-rs6735786 2 103770238 [T/C] exm2265179 2 104361420 [A/G] exm2269303 2 104757972 [T/C] exm2269112 2 105028091 [T/C] exm2254437 2 105193300 [A/G] exm2260980 2 105266464 [A/C] exm218233 2 105654555 [T/C] NM_182640 MRPS9 EXON Missense_A2V exm218235 2 105654588 [T/C] NM_182640 MRPS9 EXON Missense_S13L exm218237 2 105654617 [A/G] NM_182640 MRPS9 EXON Missense_S23G exm218244 2 105665738 [A/G] NM_182640 MRPS9 EXON Missense_N82S exm218245 2 105665808 [T/C] NM_182640 MRPS9 EXON Synonymous_D105D exm218248 2 105687796 [A/G] NM_182640 MRPS9 EXON Missense_S114N exm218249 2 105687813 [T/C] NM_182640 MRPS9 EXON Nonsense_R120X exm218252 2 105696476 [T/G] NM_182640 MRPS9 EXON Missense_Y149D exm2236037 2 105696477 [A/G] NM_182640 MRPS9 EXON Missense_Y149C exm218267 2 105708941 [A/G] NM_182640 MRPS9 EXON Missense_R245Q exm218269 2 105708997 [A/G] NM_182640 MRPS9 EXON Missense_E264K exm218275 2 105710062 [A/G] NM_182640 MRPS9 EXON Missense_D299N exm218281 2 105713689 [A/G] NM_182640 MRPS9 EXON Missense_G336R exm2265181 2 105819545 [A/G] exm-rs6712932 2 105837598 [T/C] exm218299 2 105858434 [T/C] NM_007227 GPR45 EXON Missense_V40A exm218310 2 105858773 [T/C] NM_007227 GPR45 EXON Missense_A153V exm218313 2 105858802 [A/G] NM_007227 GPR45 EXON Missense_A163T exm218328 2 105858990 [C/G] NM_007227 GPR45 EXON Missense_N225K exm218334 2 105859055 [A/G] NM_007227 GPR45 EXON Missense_R247Q exm218341 2 105859249 [T/C] NM_007227 GPR45 EXON Missense_L312F exm218362 2 105885934 [T/G] NM_001142621,NM_004257 TGFBRAP1,TGFBRAP1 EXON Missense_A734D,Missense_A734D exm218363 2 105885942 [A/G] NM_001142621,NM_004257 TGFBRAP1,TGFBRAP1 EXON Synonymous_H731H,Synonymous_H731H exm218365 2 105885961 [T/C] NM_001142621,NM_004257 TGFBRAP1,TGFBRAP1 EXON Missense_H725R,Missense_H725R exm2254441 2 105889349 [A/G] NM_001142621,NM_004257 TGFBRAP1,TGFBRAP1 EXON Synonymous_L645L,Synonymous_L645L exm218377 2 105889374 [A/G] NM_001142621,NM_004257 TGFBRAP1,TGFBRAP1 EXON Missense_T637M,Missense_T637M exm218386 2 105890081 [T/C] NM_001142621,NM_004257 TGFBRAP1,TGFBRAP1 EXON Missense_D578N,Missense_D578N exm2236041 2 105897176 [T/C] NM_001142621,NM_004257 TGFBRAP1,TGFBRAP1 EXON Missense_G376S,Missense_G376S exm-rs1020064 2 105897740 [T/G] NM_001142621,NM_004257 TGFBRAP1,TGFBRAP1 Silent,Silent exm218409 2 105912938 [T/C] NM_001142621,NM_004257 TGFBRAP1,TGFBRAP1 EXON Missense_V305I,Missense_V305I exm218410 2 105912949 [C/G] NM_001142621,NM_004257 TGFBRAP1,TGFBRAP1 EXON Missense_T301R,Missense_T301R exm218413 2 105915058 [T/C] NM_001142621,NM_004257 TGFBRAP1,TGFBRAP1 EXON Missense_D265N,Missense_D265N exm218430 2 105924130 [A/G] NM_001142621,NM_004257 TGFBRAP1,TGFBRAP1 EXON Missense_P210L,Missense_P210L exm218438 2 105924265 [A/G] NM_001142621,NM_004257 TGFBRAP1,TGFBRAP1 EXON Missense_S165L,Missense_S165L exm218448 2 105924455 [T/C] NM_001142621,NM_004257 TGFBRAP1,TGFBRAP1 EXON Missense_V102I,Missense_V102I exm218456 2 105924545 [A/G] NM_001142621,NM_004257 TGFBRAP1,TGFBRAP1 EXON Missense_H72Y,Missense_H72Y exm218465 2 105924731 [G/C] NM_001142621,NM_004257 TGFBRAP1,TGFBRAP1 EXON Missense_V10L,Missense_V10L exm218466 2 105924736 [A/G] NM_001142621,NM_004257 TGFBRAP1,TGFBRAP1 EXON Missense_T8M,Missense_T8M exm218471 2 105954054 [A/G] NM_024093 C2orf49 EXON Missense_D4N exm218494 2 105959502 [T/C] NM_024093 C2orf49 EXON Missense_S155F exm218498 2 105959538 [A/C] NM_024093 C2orf49 EXON Missense_N167T exm218502 2 105959592 [A/G] NM_024093 C2orf49 EXON Missense_G185D exm218503 2 105959601 [A/G] NM_024093 C2orf49 EXON Missense_K188R exm218507 2 105961788 [T/C] NM_024093 C2orf49 EXON Missense_P220L exm218508 2 105961794 [T/C] NM_024093 C2orf49 EXON Missense_A222V exm218510 2 105977760 [T/C] NM_001450,NM_001039492,NM_201555,NM_201557 FHL2,FHL2,FHL2,FHL2 EXON Missense_D274N,Missense_D274N,Missense_D274N,Missense_D274N exm218518 2 105979900 [T/C] NM_001450,NM_001039492,NM_201555,NM_201557 FHL2,FHL2,FHL2,FHL2 EXON Missense_R177Q,Missense_R177Q,Missense_R177Q,Missense_R177Q exm2236043 2 105979918 [A/G] NM_001450,NM_001039492,NM_201555,NM_201557 FHL2,FHL2,FHL2,FHL2 EXON Missense_T171M,Missense_T171M,Missense_T171M,Missense_T171M exm218527 2 105984191 [A/G] NM_001450,NM_001039492,NM_201555,NM_201557 FHL2,FHL2,FHL2,FHL2 EXON Missense_R113C,Missense_R113C,Missense_R113C,Missense_R113C exm218545 2 106002865 [A/C] NM_001450,NM_001039492,NM_201555,NM_201557 FHL2,FHL2,FHL2,FHL2 EXON Missense_A37S,Missense_A37S,Missense_A37S,Missense_A37S exm2265182 2 106042958 [A/G] NM_201557 FHL2 Silent exm2265339 2 106122727 [A/G] exm218566 2 106471720 [T/C] NM_003581,NM_001004722,NM_001004720 NCK2,NCK2,NCK2 EXON Synonymous_L67L,Synonymous_L67L,Synonymous_L67L exm2254443 2 106471720 [T/C] NM_003581,NM_001004722,NM_001004720 NCK2,NCK2,NCK2 EXON Synonymous_L67L,Synonymous_L67L,Synonymous_L67L exm1974496 2 106498333 [T/C] NM_003581,NM_001004722,NM_001004720 NCK2,NCK2,NCK2 EXON Missense_P259L,Silent,Missense_P259L exm218594 2 106509453 [A/G] NM_003581,NM_001004722,NM_001004720 NCK2,NCK2,NCK2 EXON Missense_V322M,Missense_R81H,Missense_V322M exm218595 2 106509501 [A/G] NM_003581,NM_001004722,NM_001004720 NCK2,NCK2,NCK2 EXON Missense_V338M,Silent,Missense_V338M exm218614 2 106690368 [A/G] NM_032411 C2orf40 EXON Missense_A52T exm218615 2 106690371 [A/G] NM_032411 C2orf40 EXON Missense_V53I exm1974507 2 106690414 [A/G] NM_032411 C2orf40 EXON Missense_R67H exm218618 2 106690470 [T/C] NM_032411 C2orf40 EXON Nonsense_Q86X exm218622 2 106690498 [T/C] NM_032411 C2orf40 EXON Missense_A95V exm218629 2 106694269 [T/C] NM_032411 C2orf40 EXON Missense_H112Y exm218630 2 106694270 [A/G] NM_032411 C2orf40 EXON Missense_H112R exm218651 2 106729102 [T/C] NM_001253875,NM_001253876,NM_025076,NR_045607 UXS1,UXS1,UXS1,UXS1 EXON Synonymous_T293T,Synonymous_T120T,Synonymous_T288T,Silent exm218656 2 106729219 [T/G] NM_001253875,NM_001253876,NM_025076,NR_045607 UXS1,UXS1,UXS1,UXS1 EXON Missense_E254D,Missense_E81D,Missense_E249D,Silent exm218661 2 106742112 [A/G] NM_001253875,NM_001253876,NM_025076,NR_045607 UXS1,UXS1,UXS1,UXS1 EXON Missense_R201C,Missense_R28C,Missense_R196C,Silent exm2269113 2 106765133 [T/G] NM_001253875,NM_025076,NR_045607 UXS1,UXS1,UXS1 Silent,Silent,Silent exm-rs11682222 2 106801256 [T/C] NM_001253875,NM_025076,NR_045607 UXS1,UXS1,UXS1 Silent,Silent,Silent exm2269304 2 106974619 [T/C] exm2263901 2 107199075 [A/C] exm218787 2 107446600 [T/C] NM_001142351,NM_032528,NM_001142352 ST6GAL2,ST6GAL2,ST6GAL2 EXON Missense_I414V,Missense_I414V,Missense_I414V exm218790 2 107446665 [G/C] NM_001142351,NM_032528,NM_001142352 ST6GAL2,ST6GAL2,ST6GAL2 EXON Missense_T392S,Missense_T392S,Missense_T392S exm218799 2 107450525 [T/C] NM_001142351,NM_032528,NM_001142352 ST6GAL2,ST6GAL2,ST6GAL2 EXON Missense_I341V,Missense_I341V,Missense_I341V exm218802 2 107450590 [A/G] NM_001142351,NM_032528,NM_001142352 ST6GAL2,ST6GAL2,ST6GAL2 EXON Missense_A319V,Missense_A319V,Missense_A319V exm218813 2 107459745 [A/G] NM_001142351,NM_032528,NM_001142352 ST6GAL2,ST6GAL2,ST6GAL2 EXON Missense_T230I,Missense_T230I,Missense_T230I exm218818 2 107459861 [T/G] NM_001142351,NM_032528,NM_001142352 ST6GAL2,ST6GAL2,ST6GAL2 EXON Missense_D191E,Missense_D191E,Missense_D191E exm218819 2 107459864 [T/G] NM_001142351,NM_032528,NM_001142352 ST6GAL2,ST6GAL2,ST6GAL2 EXON Missense_D190E,Missense_D190E,Missense_D190E exm218824 2 107459898 [T/C] NM_001142351,NM_032528,NM_001142352 ST6GAL2,ST6GAL2,ST6GAL2 EXON Missense_R179K,Missense_R179K,Missense_R179K exm218826 2 107459919 [T/C] NM_001142351,NM_032528,NM_001142352 ST6GAL2,ST6GAL2,ST6GAL2 EXON Missense_R172Q,Missense_R172Q,Missense_R172Q exm218829 2 107459974 [T/C] NM_001142351,NM_032528,NM_001142352 ST6GAL2,ST6GAL2,ST6GAL2 EXON Missense_G154R,Missense_G154R,Missense_G154R exm1974641 2 107460069 [G/C] NM_001142351,NM_032528,NM_001142352 ST6GAL2,ST6GAL2,ST6GAL2 EXON Missense_S122T,Missense_S122T,Missense_S122T exm218835 2 107460162 [A/G] NM_001142351,NM_032528,NM_001142352 ST6GAL2,ST6GAL2,ST6GAL2 EXON Missense_A91V,Missense_A91V,Missense_A91V exm218840 2 107460269 [G/C] NM_001142351,NM_032528,NM_001142352 ST6GAL2,ST6GAL2,ST6GAL2 EXON Missense_Q55H,Missense_Q55H,Missense_Q55H exm218841 2 107460279 [A/G] NM_001142351,NM_032528,NM_001142352 ST6GAL2,ST6GAL2,ST6GAL2 EXON Missense_L52P,Missense_L52P,Missense_L52P exm218846 2 107460345 [T/A] NM_001142351,NM_032528,NM_001142352 ST6GAL2,ST6GAL2,ST6GAL2 EXON Missense_F30Y,Missense_F30Y,Missense_F30Y exm218848 2 107460348 [T/A] NM_001142351,NM_032528,NM_001142352 ST6GAL2,ST6GAL2,ST6GAL2 EXON Missense_Y29F,Missense_Y29F,Missense_Y29F exm2269114 2 108169377 [T/C] exm2263949 2 108217756 [A/C] exm2269115 2 108605836 [T/C] NM_021815 SLC5A7 Silent exm218955 2 108618468 [A/G] NM_021815 SLC5A7 EXON Missense_Y238C exm218972 2 108626751 [A/G] NM_021815 SLC5A7 EXON Missense_T393A exm2236061 2 108626808 [T/C] NM_021815 SLC5A7 EXON Missense_L412F exm218975 2 108626811 [A/G] NM_021815 SLC5A7 EXON Missense_V413I exm218978 2 108626880 [A/G] NM_021815 SLC5A7 EXON Missense_V436M exm2273813 2 108627070 [A/C] NM_021815 SLC5A7 EXON Missense_K499T exm218987 2 108627216 [T/C] NM_021815 SLC5A7 EXON Nonsense_R548X exm218990 2 108863652 [T/C] NM_001008743 SULT1C3 EXON Missense_M1T exm218992 2 108863661 [T/C] NM_001008743 SULT1C3 EXON Missense_I4T exm219000 2 108863758 [A/G] NM_001008743 SULT1C3 EXON Nonsense_W36X exm219004 2 108868910 [A/G] NM_001008743 SULT1C3 EXON Missense_A88T exm219010 2 108869824 [T/C] NM_001008743 SULT1C3 EXON Missense_S109P exm219014 2 108872034 [T/A] NM_001008743 SULT1C3 EXON Missense_Y136N exm219016 2 108872071 [A/G] NM_001008743 SULT1C3 EXON Missense_Y148C exm219026 2 108875198 [A/G] NM_001008743 SULT1C3 EXON Missense_G179R exm219029 2 108875244 [T/C] NM_001008743 SULT1C3 EXON Missense_M194T exm219032 2 108875267 [T/C] NM_001008743 SULT1C3 EXON Missense_Y202H exm219033 2 108875270 [A/G] NM_001008743 SULT1C3 EXON Missense_E203K exm219037 2 108881290 [T/C] NM_001008743 SULT1C3 EXON Missense_R211W exm219041 2 108881338 [T/G] NM_001008743 SULT1C3 EXON Nonsense_E227X exm219050 2 108881733 [T/C] NM_001008743 SULT1C3 EXON Nonsense_Q281X exm219054 2 108881794 [A/G] NM_001008743 SULT1C3 EXON Missense_R301H exm1974792 2 108910170 [T/C] NM_001056,NM_176825 SULT1C2,SULT1C2 EXON Missense_V16A,Missense_V16A exm219067 2 108910712 [A/C] NM_001056,NM_176825 SULT1C2,SULT1C2 EXON Missense_D60A,Missense_D60A exm219068 2 108910718 [T/C] NM_001056,NM_176825 SULT1C2,SULT1C2 EXON Missense_I62T,Missense_I62T exm219072 2 108910735 [A/G] NM_001056,NM_176825 SULT1C2,SULT1C2 EXON Missense_V68M,Missense_V68M exm219073 2 108910751 [A/G] NM_001056,NM_176825 SULT1C2,SULT1C2 EXON Missense_R73Q,Missense_R73Q exm219077 2 108910793 [A/G] NM_001056,NM_176825 SULT1C2,SULT1C2 EXON Missense_R87Q,Missense_R87Q exm219089 2 108921033 [T/C] NM_001056,NM_176825 SULT1C2,SULT1C2 EXON Missense_L127F,Missense_L138F exm219090 2 108921036 [T/C] NM_001056,NM_176825 SULT1C2,SULT1C2 EXON Missense_Y128H,Missense_Y139H exm219091 2 108921046 [A/G] NM_001056,NM_176825 SULT1C2,SULT1C2 EXON Missense_R131Q,Missense_R142Q exm219101 2 108921708 [A/G] NM_001056,NM_176825 SULT1C2,SULT1C2 EXON Missense_E195K,Missense_E206K exm219103 2 108921889 [T/C] NM_001056,NM_176825 SULT1C2,SULT1C2 EXON Missense_R206W,Missense_R217W exm219108 2 108922036 [T/G] NM_001056,NM_176825 SULT1C2,SULT1C2 EXON Missense_S255A,Missense_S266A exm219117 2 108994808 [G/C] NM_006588 SULT1C4 EXON Missense_D5E exm219126 2 108998245 [T/A] NM_006588 SULT1C4 EXON Missense_E66V exm2236064 2 108998252 [A/G] NM_006588 SULT1C4 EXON Missense_I68M exm219128 2 108998290 [G/C] NM_006588 SULT1C4 EXON Missense_P81R exm219138 2 108998874 [A/G] NM_006588 SULT1C4 EXON Missense_R110Q exm2269305 2 108999786 [T/C] NM_006588 SULT1C4 Silent exm219155 2 109003808 [A/G] NM_006588 SULT1C4 EXON Missense_V277M exm219167 2 109067508 [A/C] NM_181453,NR_028063 GCC2,GCC2 EXON Missense_L30I,Silent exm219171 2 109068891 [G/C] NM_181453,NR_028063 GCC2,GCC2 EXON Missense_P62R,Silent exm219175 2 109085455 [A/G] NM_181453,NR_028063 GCC2,GCC2 EXON Missense_D79G,Silent exm219191 2 109086649 [A/C] NM_181453,NR_028063 GCC2,GCC2 EXON Missense_E288D,Silent exm219192 2 109086676 [T/G] NM_181453,NR_028063 GCC2,GCC2 EXON Missense_C297W,Silent exm219193 2 109086737 [A/G] NM_181453,NR_028063 GCC2,GCC2 EXON Missense_I318V,Silent exm219194 2 109086753 [A/G] NM_181453,NR_028063 GCC2,GCC2 EXON Missense_N323S,Silent exm219203 2 109087155 [T/C] NM_181453,NR_028063 GCC2,GCC2 EXON Missense_F457S,Silent exm219205 2 109087164 [A/G] NM_181453,NR_028063 GCC2,GCC2 EXON Missense_Q460R,Silent exm219212 2 109087307 [A/G] NM_181453,NR_028063 GCC2,GCC2 EXON Missense_M508V,Silent exm219213 2 109087329 [A/G] NM_181453,NR_028063 GCC2,GCC2 EXON Missense_D515G,Silent exm219220 2 109087563 [C/G] NM_181453,NR_028063 GCC2,GCC2 EXON Missense_T593S,Silent exm2236066 2 109088115 [A/C] NM_181453,NR_028063 GCC2,GCC2 EXON Missense_K777T,Silent exm219238 2 109088231 [A/G] NM_181453,NR_028063 GCC2,GCC2 EXON Missense_K816E,Silent exm219246 2 109088337 [A/C] NM_181453,NR_028063 GCC2,GCC2 EXON Missense_Q851P,Silent exm219247 2 109088343 [A/G] NM_181453,NR_028063 GCC2,GCC2 EXON Missense_E853G,Silent exm2236068 2 109088381 [T/A] NM_181453,NR_028063 GCC2,GCC2 EXON Missense_N866Y,Silent exm219259 2 109089289 [T/A] NM_181453,NR_028063 GCC2,GCC2 EXON Missense_L932I,Silent exm219265 2 109092059 [A/G] NM_181453,NR_028063 GCC2,GCC2 EXON Missense_A977T,Silent exm219269 2 109092302 [A/G] NM_181453,NR_028063 GCC2,GCC2 EXON Missense_Y1019C,Silent exm219274 2 109098229 [A/G] NM_181453,NR_028063 GCC2,GCC2 EXON Missense_R1046H,Silent exm219276 2 109098854 [A/G] NM_181453,NR_028063 GCC2,GCC2 EXON Missense_M1098V,Silent exm219281 2 109099531 [C/G] NM_181453,NR_028063 GCC2,GCC2 EXON Missense_T1120S,Silent exm219282 2 109099572 [G/C] NM_181453,NR_028063 GCC2,GCC2 EXON Missense_Q1134E,Silent exm219304 2 109103009 [A/G] NM_181453,NR_028063 GCC2,GCC2 EXON Missense_E1279K,Silent exm219306 2 109103012 [T/C] NM_181453,NR_028063 GCC2,GCC2 EXON Missense_H1280Y,Silent exm219317 2 109104161 [A/C] NM_181453,NR_028063 GCC2,GCC2 EXON Missense_Q1313K,Silent exm1974888 2 109109171 [A/G] NM_181453,NR_028063 GCC2,GCC2 EXON Missense_V1458M,Silent exm219352 2 109113552 [T/C] NM_181453,NR_028063 GCC2,GCC2 EXON Missense_M1590T,Silent exm219368 2 109124081 [T/C] NM_181453,NR_028063 GCC2,GCC2 EXON Nonsense_R1684X,Silent exm219371 2 109237865 [T/C] NM_001193483,NM_004987,NM_001193488,NM_001193482,NM_001193484 LIMS1,LIMS1,LIMS1,LIMS1,LIMS1 EXON Silent,Silent,Silent,Silent,Nonsense_R19X exm2236073 2 109356953 [T/G] NM_006267 RANBP2 EXON Missense_S264I exm219453 2 109356968 [T/C] NM_006267 RANBP2 EXON Missense_V269A exm219454 2 109356978 [C/G] NM_006267 RANBP2 EXON Missense_L272F exm219478 2 109365543 [A/G] NM_006267 RANBP2 EXON Missense_V411I exm219545 2 109379813 [T/G] NM_006267 RANBP2 EXON Missense_G940C exm219549 2 109379889 [A/G] NM_006267 RANBP2 EXON Missense_N965S exm219557 2 109379987 [A/G] NM_006267 RANBP2 EXON Missense_T998A exm219566 2 109380157 [T/G] NM_006267 RANBP2 EXON Missense_Q1054H exm219567 2 109380158 [T/C] NM_006267 RANBP2 EXON Missense_P1055S exm219570 2 109380221 [T/G] NM_006267 RANBP2 EXON Missense_L1076V exm219573 2 109380345 [T/C] NM_006267 RANBP2 EXON Missense_S1117L exm219574 2 109380358 [T/G] NM_006267 RANBP2 EXON Missense_K1121N exm219577 2 109380362 [T/G] NM_006267 RANBP2 EXON Missense_S1123A exm219584 2 109380456 [T/A] NM_006267 RANBP2 EXON Missense_H1154L exm219604 2 109381128 [T/C] NM_006267 RANBP2 EXON Missense_L1378P exm219608 2 109381215 [A/G] NM_006267 RANBP2 EXON Missense_R1407Q exm1975030 2 109381326 [T/C] NM_006267 RANBP2 EXON Missense_A1444V exm219621 2 109381437 [A/G] NM_006267 RANBP2 EXON Missense_G1481E exm219623 2 109381454 [T/G] NM_006267 RANBP2 EXON Missense_A1487S exm219625 2 109381493 [C/G] NM_006267 RANBP2 EXON Missense_A1500P exm219636 2 109381721 [A/T] NM_006267 RANBP2 EXON Missense_T1576S exm219637 2 109381755 [T/G] NM_006267 RANBP2 EXON Missense_G1587V exm219668 2 109382556 [A/G] NM_006267 RANBP2 EXON Missense_N1854S exm219745 2 109388273 [A/G] NM_006267 RANBP2 EXON Missense_T2656A exm2254450 2 109388986 [T/C] NM_006267 RANBP2 EXON Synonymous_L2688L exm1975063 2 109388999 [A/G] NM_006267 RANBP2 EXON Missense_G2692D exm219766 2 109392302 [A/G] NM_006267 RANBP2 EXON Missense_I2803V exm1975070 2 109392356 [A/C] NM_006267 RANBP2 EXON Missense_T2821P exm219769 2 109392379 [T/A] NM_006267 RANBP2 EXON Missense_D2828E exm219774 2 109397838 [A/G] NM_006267 RANBP2 EXON Missense_V2905I exm219783 2 109399107 [T/C] NM_006267 RANBP2 EXON Missense_S3053L exm219787 2 109399202 [T/C] NM_006267 RANBP2 EXON Missense_F3085L exm219789 2 109399295 [A/G] NM_006267 RANBP2 EXON Missense_V3116I exm219801 2 109403311 [C/G] NM_144978 CCDC138 EXON Missense_Q11H exm219810 2 109404498 [G/C] NM_144978 CCDC138 EXON Nonsense_S35X exm219815 2 109405332 [T/A] NM_144978 CCDC138 EXON Missense_D59V exm219818 2 109405421 [T/C] NM_144978 CCDC138 EXON Missense_C89R exm219821 2 109408159 [T/G] NM_144978 CCDC138 EXON Missense_D99Y exm219828 2 109410999 [T/C] NM_144978 CCDC138 EXON Missense_A133V exm219835 2 109411118 [T/C] NM_144978 CCDC138 EXON Missense_L173F exm219843 2 109415001 [T/G] NM_144978 CCDC138 EXON Missense_V232F exm219860 2 109429277 [C/G] NM_144978 CCDC138 EXON Missense_R312T exm219863 2 109429355 [A/C] NM_144978 CCDC138 EXON Missense_E338A exm219865 2 109432452 [T/C] NM_144978 CCDC138 EXON Missense_S366L exm219867 2 109432485 [A/C] NM_144978 CCDC138 EXON Missense_E377A exm219869 2 109432509 [T/C] NM_144978 CCDC138 EXON Missense_P385L exm219878 2 109463204 [T/C] NM_144978 CCDC138 EXON Missense_M445T exm219880 2 109463228 [A/G] NM_144978 CCDC138 EXON Missense_G453D exm219882 2 109473295 [A/C] NM_144978 CCDC138 EXON Missense_K521T exm219885 2 109473379 [T/G] NM_144978 CCDC138 EXON Missense_L549R exm1975121 2 109489976 [A/G] NM_144978 CCDC138 EXON Missense_R588Q exm219894 2 109492622 [T/G] NM_144978 CCDC138 EXON Missense_H637Q exm219896 2 109513401 [A/C] NM_022336 EDAR EXON Missense_V437F exm219905 2 109513572 [T/G] NM_022336 EDAR EXON Missense_S380R exm219908 2 109513601 [A/G] NM_022336 EDAR EXON Missense_V370A exm219912 2 109513673 [A/G] NM_022336 EDAR EXON Missense_T346M exm219914 2 109522772 [A/G] NM_022336 EDAR EXON Missense_V339A exm219933 2 109526983 [T/C] NM_022336 EDAR EXON Missense_V246M exm219962 2 109545691 [T/C] NM_022336 EDAR EXON Missense_M107V exm219965 2 109545744 [T/C] NM_022336 EDAR EXON Missense_R89H exm219967 2 109545783 [A/G] NM_022336 EDAR EXON Missense_A76V exm219973 2 109546656 [T/C] NM_022336 EDAR EXON Missense_G32S exm219980 2 109547428 [T/C] NM_022336 EDAR EXON Missense_V15I exm2269306 2 109578855 [T/C] NM_022336 EDAR Silent exm-rs260690 2 109579738 [A/C] NM_022336 EDAR Silent exm-rs4676049 2 109635257 [T/C] exm220014 2 109964163 [T/C] NM_001099289 SH3RF3 EXON Missense_Y203H exm220016 2 109964211 [A/G] NM_001099289 SH3RF3 EXON Missense_D219N exm220029 2 109988045 [A/G] NM_001099289 SH3RF3 EXON Missense_E285K exm220038 2 110015202 [T/C] NM_001099289 SH3RF3 EXON Missense_R368W exm220039 2 110015223 [A/G] NM_001099289 SH3RF3 EXON Missense_N375D exm220048 2 110015349 [A/G] NM_001099289 SH3RF3 EXON Missense_A417T exm220052 2 110036008 [T/C] NM_001099289 SH3RF3 EXON Missense_S438L exm220062 2 110049055 [T/G] NM_001099289 SH3RF3 EXON Missense_W501L exm220067 2 110053372 [T/C] NM_001099289 SH3RF3 EXON Missense_P533L exm220080 2 110053570 [T/C] NM_001099289 SH3RF3 EXON Missense_T599M exm220081 2 110065649 [G/C] NM_001099289 SH3RF3 EXON Missense_Q618E exm220084 2 110065683 [A/G] NM_001099289 SH3RF3 EXON Missense_R629H exm220099 2 110065911 [T/C] NM_001099289 SH3RF3 EXON Missense_T705M exm220100 2 110065914 [T/G] NM_001099289 SH3RF3 EXON Missense_G706V exm220102 2 110107062 [A/G] NM_001099289 SH3RF3 EXON Missense_K717R exm220106 2 110107362 [A/G] NM_001099289 SH3RF3 EXON Missense_R817H exm2254454 2 110259098 [A/G] NM_001099289 SH3RF3 EXON Synonymous_S833S exm2263902 2 110313489 [A/C] NR_047585,NM_178584,NM_144710 SEPT10,SEPT10,SEPT10 Silent,Silent,Silent exm220143 2 110323375 [A/G] NR_047585,NM_178584,NM_144710 SEPT10,SEPT10,SEPT10 EXON Silent,Missense_V252A,Missense_V275A exm220144 2 110323388 [T/C] NR_047585,NM_178584,NM_144710 SEPT10,SEPT10,SEPT10 EXON Silent,Missense_G248R,Missense_G271R exm220146 2 110323424 [A/G] NR_047585,NM_178584,NM_144710 SEPT10,SEPT10,SEPT10 EXON Silent,Missense_F236L,Missense_F259L exm220166 2 110332226 [A/G] NR_047585,NM_178584,NM_144710 SEPT10,SEPT10,SEPT10 EXON Silent,Missense_F155L,Missense_F178L exm220170 2 110332261 [A/G] NR_047585,NM_178584,NM_144710 SEPT10,SEPT10,SEPT10 EXON Silent,Missense_T143I,Missense_T166I exm220173 2 110332292 [T/C] NR_047585,NM_178584,NM_144710 SEPT10,SEPT10,SEPT10 EXON Silent,Missense_E133K,Missense_E156K exm220187 2 110343382 [T/C] NR_047585,NM_178584,NM_144710 SEPT10,SEPT10,SEPT10 EXON Silent,Missense_G22S,Missense_G45S exm220220 2 110373165 [A/G] NM_023016 SOWAHC EXON Missense_D367N exm220234 2 110373468 [A/G] NM_023016 SOWAHC EXON Missense_I468V exm2260986 2 110458618 [A/G] exm2265185 2 110863908 [A/G] NM_005434 MALL Silent exm220310 2 110873332 [A/G] NM_005434 MALL EXON Missense_P13L exm1975249 2 110881489 [T/C] NM_000272,NM_001128178,NM_207181,NM_001128179 NPHP1,NPHP1,NPHP1,NPHP1 EXON Missense_Q694R,Missense_Q638R,Missense_Q693R,Missense_Q575R exm220318 2 110881615 [A/G] NM_000272,NM_001128178,NM_207181,NM_001128179 NPHP1,NPHP1,NPHP1,NPHP1 EXON Missense_T652M,Missense_T596M,Missense_T651M,Missense_T533M exm220323 2 110883254 [A/G] NM_000272,NM_001128178,NM_207181,NM_001128179 NPHP1,NPHP1,NPHP1,NPHP1 EXON Missense_S630L,Missense_S574L,Missense_S629L,Missense_S511L exm220340 2 110901179 [T/C] NM_000272,NM_001128178,NM_207181,NM_001128179 NPHP1,NPHP1,NPHP1,NPHP1 EXON Missense_R546K,Missense_R490K,Missense_R545K,Missense_R427K exm220342 2 110901215 [T/C] NM_000272,NM_001128178,NM_207181,NM_001128179 NPHP1,NPHP1,NPHP1,NPHP1 EXON Missense_H534R,Missense_H478R,Missense_H533R,Missense_H415R exm1975256 2 110902080 [T/C] NM_000272,NM_001128178,NM_207181,NM_001128179 NPHP1,NPHP1,NPHP1,NPHP1 EXON Missense_I529M,Missense_I473M,Missense_I528M,Missense_I410M exm220354 2 110919181 [A/G] NM_000272,NM_001128178,NM_207181,NM_001128179 NPHP1,NPHP1,NPHP1,NPHP1 EXON Missense_T374I,Missense_T318I,Missense_T373I,Missense_T255I exm220358 2 110920625 [T/C] NM_000272,NM_001128178,NM_207181,NM_001128179 NPHP1,NPHP1,NPHP1,NPHP1 EXON Missense_G343R,Missense_G287R,Missense_G342R,Missense_G224R exm220361 2 110920681 [A/G] NM_000272,NM_001128178,NM_207181,NM_001128179 NPHP1,NPHP1,NPHP1,NPHP1 EXON Missense_M324T,Missense_M268T,Missense_M323T,Missense_M205T exm220363 2 110920684 [A/G] NM_000272,NM_001128178,NM_207181,NM_001128179 NPHP1,NPHP1,NPHP1,NPHP1 EXON Missense_T323M,Missense_T267M,Missense_T322M,Missense_T204M exm220367 2 110922096 [A/C] NM_000272,NM_001128178,NM_207181,NM_001128179 NPHP1,NPHP1,NPHP1,NPHP1 Silent,Silent,Silent,Silent exm220369 2 110922131 [T/C] NM_000272,NM_001128178,NM_207181,NM_001128179 NPHP1,NPHP1,NPHP1,NPHP1 EXON Missense_G302E,Silent,Missense_G302E,Silent exm220372 2 110922176 [T/C] NM_000272,NM_001128178,NM_207181,NM_001128179 NPHP1,NPHP1,NPHP1,NPHP1 EXON Missense_N287S,Silent,Missense_N287S,Silent exm220373 2 110922206 [T/C] NM_000272,NM_001128178,NM_207181,NM_001128179 NPHP1,NPHP1,NPHP1,NPHP1 EXON Missense_R277Q,Silent,Missense_R277Q,Silent exm220375 2 110922668 [A/G] NM_000272,NM_001128178,NM_207181,NM_001128179 NPHP1,NPHP1,NPHP1,NPHP1 EXON Missense_A230V,Missense_A230V,Missense_A230V,Missense_A168V exm220378 2 110926034 [C/G] NM_000272,NM_001128178,NM_207181,NM_001128179 NPHP1,NPHP1,NPHP1,NPHP1 EXON Missense_L207V,Missense_L207V,Missense_L207V,Missense_L145V exm220389 2 110936097 [A/G] NM_000272,NM_001128178,NM_207181,NM_001128179 NPHP1,NPHP1,NPHP1,NPHP1 EXON Missense_Y78H,Missense_Y78H,Missense_Y78H,Silent exm220393 2 110959008 [T/G] NM_000272,NM_001128178,NM_207181,NM_001128179 NPHP1,NPHP1,NPHP1,NPHP1 EXON Missense_I45L,Missense_I45L,Missense_I45L,Missense_I45L exm220394 2 110959026 [T/G] NM_000272,NM_001128178,NM_207181,NM_001128179 NPHP1,NPHP1,NPHP1,NPHP1 EXON Missense_P39T,Missense_P39T,Missense_P39T,Missense_P39T exm220395 2 110959055 [A/G] NM_000272,NM_001128178,NM_207181,NM_001128179 NPHP1,NPHP1,NPHP1,NPHP1 EXON Missense_S29F,Missense_S29F,Missense_S29F,Missense_S29F exm220397 2 110962532 [A/C] NM_000272,NM_001128178,NM_207181,NM_001128179 NPHP1,NPHP1,NPHP1,NPHP1 EXON Missense_R5L,Missense_R5L,Missense_R5L,Missense_R5L exm220421 2 111395603 [T/C] NM_004336 BUB1 EXON Missense_I1066V exm2236102 2 111395736 [C/G] NM_004336 BUB1 EXON Missense_R1021S exm220446 2 111406882 [T/C] NM_004336 BUB1 EXON Missense_S759N exm220455 2 111408341 [A/G] NM_004336 BUB1 EXON Missense_P662L exm2236103 2 111413438 [T/C] NM_004336 BUB1 EXON Missense_R585H exm220472 2 111415139 [T/C] NM_004336 BUB1 EXON Missense_N534D exm220480 2 111416192 [T/G] NM_004336 BUB1 EXON Missense_L468F exm220483 2 111417615 [T/C] NM_004336 BUB1 Silent exm220504 2 111425226 [A/G] NM_004336 BUB1 EXON Missense_A226V exm2236105 2 111427083 [A/T] NM_004336 BUB1 EXON Missense_I172L exm220527 2 111431788 [T/C] NM_004336 BUB1 EXON Missense_V34I exm220546 2 111542370 [T/C] NM_001142807 ACOXL EXON Missense_A46V exm2254460 2 111542383 [A/C] NM_001142807 ACOXL EXON Synonymous_T50T exm220548 2 111542383 [A/C] NM_001142807 ACOXL EXON Synonymous_T50T exm220549 2 111551254 [A/G] NM_001142807 ACOXL EXON Missense_G63S exm220553 2 111551680 [A/G] NM_001142807 ACOXL EXON Missense_M92V exm220555 2 111551708 [T/C] NM_001142807 ACOXL EXON Missense_A101V exm220557 2 111551725 [A/G] NM_001142807 ACOXL EXON Missense_E107K exm220558 2 111551731 [A/G] NM_001142807 ACOXL EXON Missense_T109A exm220562 2 111556203 [T/C] NM_001142807 ACOXL EXON Missense_T121M exm220569 2 111556617 [T/C] NM_001142807 ACOXL EXON Missense_R163W exm220576 2 111559229 [A/G] NM_001142807 ACOXL EXON Missense_G183D exm220577 2 111559231 [A/C] NM_001142807 ACOXL EXON Missense_L184M exm220579 2 111559261 [T/C] NM_001142807 ACOXL EXON Missense_F194L exm220584 2 111562875 [T/C] NM_001142807 ACOXL EXON Missense_S219L exm220586 2 111562901 [T/C] NM_001142807 ACOXL EXON Missense_F228L exm2265186 2 111591331 [A/G] NM_001142807 ACOXL Silent exm220598 2 111598958 [T/C] NM_001142807 ACOXL EXON Missense_T255M exm220599 2 111598983 [A/G] NM_001142807 ACOXL Silent exm220604 2 111666368 [A/G] NM_001142807 ACOXL EXON Missense_R264Q exm220611 2 111691068 [A/G] NM_001142807 ACOXL EXON Missense_Y303C exm220620 2 111691199 [T/C] NM_001142807 ACOXL EXON Missense_R347C exm2265341 2 111752416 [A/G] NM_001142807 ACOXL Silent exm220643 2 111753546 [A/C] NM_001142807 ACOXL EXON Missense_L416I exm220655 2 111789287 [A/C] NM_001142807 ACOXL EXON Missense_H455Q exm2254461 2 111796833 [A/G] NM_001142807 ACOXL Silent exm-rs17483466 2 111797458 [A/G] NM_001142807 ACOXL Silent exm220657 2 111806794 [T/G] NM_001142807 ACOXL Silent exm220664 2 111850515 [T/C] NM_001142807 ACOXL EXON Missense_P505L exm2236110 2 111875247 [T/C] NM_001142807 ACOXL EXON Missense_F533L exm220676 2 111875379 [T/G] NM_001142807 ACOXL EXON Nonsense_G577X exm220677 2 111875388 [T/C] NM_001142807 ACOXL EXON Missense_L580F exm220685 2 111881476 [A/G] NM_138621,NM_138624,NM_138625,NM_138627,NM_138623,NM_001204113,NM_001204109,NM_138622,NM_001204106,NM_001204110,NM_001204107,NM_207003,NM_207002,NM_138626,NM_001204111,NM_001204112,NM_006538,NM_001204108 BCL2L11,BCL2L11,BCL2L11,BCL2L11,BCL2L11,BCL2L11,BCL2L11,BCL2L11,BCL2L11,BCL2L11,BCL2L11,BCL2L11,BCL2L11,BCL2L11,BCL2L11,BCL2L11,BCL2L11,BCL2L11 EXON Missense_G52R,Missense_G52R,Silent,Silent,Silent,Silent,Missense_G52R,Missense_G52R,Silent,Silent,Silent,Silent,Silent,Missense_G52R,Silent,Silent,Silent,Missense_G52R exm220695 2 111886246 [A/G] NM_138621,NM_138624,NM_138625,NM_138627,NM_138623,NM_001204113,NM_001204109,NM_138622,NM_001204106,NM_001204110,NM_001204107,NM_207003,NM_207002,NM_138626,NM_001204111,NM_001204112,NM_006538,NM_001204108 BCL2L11,BCL2L11,BCL2L11,BCL2L11,BCL2L11,BCL2L11,BCL2L11,BCL2L11,BCL2L11,BCL2L11,BCL2L11,BCL2L11,BCL2L11,BCL2L11,BCL2L11,BCL2L11,BCL2L11,BCL2L11 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_G86E,Silent,Silent,Silent,Silent,Silent exm220701 2 111907651 [T/G] NM_138621,NM_138624,NM_138625,NM_138627,NM_138623,NM_001204109,NM_138622,NM_001204106,NM_001204110,NM_001204107,NM_207003,NM_138626,NM_001204111,NM_001204112,NM_006538,NM_001204108 BCL2L11,BCL2L11,BCL2L11,BCL2L11,BCL2L11,BCL2L11,BCL2L11,BCL2L11,BCL2L11,BCL2L11,BCL2L11,BCL2L11,BCL2L11,BCL2L11,BCL2L11,BCL2L11 EXON Missense_M142R,Silent,Silent,Silent,Missense_M82R,Silent,Missense_M142R,Missense_M52R,Missense_M52R,Missense_M52R,Missense_M52R,Silent,Silent,Silent,Missense_M82R,Missense_M142R exm220714 2 111921764 [C/G] NM_138621,NM_138624,NM_138625,NM_138627,NM_138623,NM_001204109,NM_138622,NM_001204106,NM_001204110,NM_001204107,NM_207003,NM_138626,NM_001204111,NM_001204112,NM_006538,NM_001204108 BCL2L11,BCL2L11,BCL2L11,BCL2L11,BCL2L11,BCL2L11,BCL2L11,BCL2L11,BCL2L11,BCL2L11,BCL2L11,BCL2L11,BCL2L11,BCL2L11,BCL2L11,BCL2L11 EXON Missense_R185G,Silent,Silent,Silent,Silent,Silent,Silent,Missense_R95G,Silent,Silent,Silent,Silent,Silent,Silent,Missense_R125G,Silent exm-rs6738028 2 111949327 [C/G] exm-rs6720394 2 111989372 [T/G] exm2269307 2 112189642 [T/C] NR_015395,NR_024373 LOC541471,LOC541471 Silent,Silent exm2269117 2 112447888 [T/C] exm220738 2 112540037 [A/C] NM_022662 ANAPC1 EXON Missense_G1704V exm220758 2 112545878 [T/C] NM_022662 ANAPC1 EXON Missense_N1578D exm1975551 2 112582566 [A/C] NM_022662 ANAPC1 EXON Missense_L930W exm220799 2 112582744 [A/G] NM_022662 ANAPC1 EXON Missense_A902V exm2269118 2 112633405 [T/C] NM_022662 ANAPC1 Silent exm220937 2 112686742 [T/C] NM_006343 MERTK EXON Missense_P36L exm220951 2 112686988 [A/G] NM_006343 MERTK EXON Missense_S118N exm220974 2 112722783 [A/C] NM_006343 MERTK EXON Missense_A258E exm220975 2 112722792 [A/G] NM_006343 MERTK EXON Missense_S261N exm220976 2 112722801 [G/C] NM_006343 MERTK EXON Missense_A264G exm220979 2 112722854 [A/G] NM_006343 MERTK EXON Missense_A282T exm220981 2 112725747 [A/G] NM_006343 MERTK EXON Missense_R293H exm220988 2 112740535 [T/C] NM_006343 MERTK EXON Missense_R421W exm220989 2 112740536 [A/G] NM_006343 MERTK EXON Missense_R421Q exm221001 2 112751921 [A/G] NM_006343 MERTK EXON Missense_V464I exm221003 2 112751928 [A/G] NM_006343 MERTK EXON Missense_R466K exm-rs6726639 2 112753097 [A/C] NM_006343 MERTK Silent exm221012 2 112754942 [A/G] NM_006343 MERTK EXON Missense_N498S exm221019 2 112755001 [A/G] NM_006343 MERTK EXON Missense_I518V exm221021 2 112758791 [A/G] NM_006343 MERTK EXON Missense_E540K exm221034 2 112767548 [G/C] NM_006343 MERTK EXON Missense_Q662E exm221057 2 112779081 [T/C] NM_006343 MERTK EXON Missense_R758C exm221059 2 112779114 [A/G] NM_006343 MERTK EXON Missense_I769V exm221062 2 112779952 [G/C] NM_006343 MERTK EXON Missense_E823Q exm221069 2 112786025 [T/C] NM_006343 MERTK EXON Missense_P862S exm221070 2 112786034 [T/C] NM_006343 MERTK EXON Missense_R865W exm221072 2 112786049 [A/G] NM_006343 MERTK EXON Missense_V870I exm221076 2 112786119 [T/C] NM_006343 MERTK EXON Missense_L893P exm221078 2 112786167 [A/G] NM_006343 MERTK EXON Missense_R909H exm221084 2 112786292 [A/G] NM_006343 MERTK EXON Missense_A951T exm221098 2 112813190 [G/C] NM_032824 TMEM87B EXON Missense_V8L exm221118 2 112834827 [T/C] NM_032824 TMEM87B EXON Missense_T187M exm221133 2 112839061 [A/T] NM_032824 TMEM87B EXON Missense_S268R exm221137 2 112843630 [T/C] NM_032824 TMEM87B EXON Missense_T296M exm221141 2 112847206 [T/C] NM_032824 TMEM87B EXON Missense_R315C exm221147 2 112847276 [C/G] NM_032824 TMEM87B EXON Missense_G338A exm221155 2 112854816 [T/C] NM_032824 TMEM87B EXON Missense_I407T exm221169 2 112863594 [T/C] NM_032824 TMEM87B EXON Missense_L489S exm221170 2 112863618 [A/G] NM_032824 TMEM87B EXON Missense_N497S exm221173 2 112863631 [C/G] NM_032824 TMEM87B EXON Missense_K501N exm221186 2 112896249 [T/C] NM_153214,NM_001128165 FBLN7,FBLN7 EXON Missense_P6L,Missense_P6L exm221187 2 112896267 [T/C] NM_153214,NM_001128165 FBLN7,FBLN7 EXON Missense_L12P,Missense_L12P exm221194 2 112917289 [T/C] NM_153214,NM_001128165 FBLN7,FBLN7 EXON Missense_R38C,Missense_R38C exm1975723 2 112917344 [A/G] NM_153214,NM_001128165 FBLN7,FBLN7 EXON Missense_R56H,Missense_R56H exm221200 2 112917364 [A/G] NM_153214,NM_001128165 FBLN7,FBLN7 EXON Missense_A63T,Missense_A63T exm221205 2 112922599 [A/C] NM_153214,NM_001128165 FBLN7,FBLN7 EXON Missense_T86N,Missense_T86N exm221206 2 112922601 [C/G] NM_153214,NM_001128165 FBLN7,FBLN7 EXON Missense_P87A,Missense_P87A exm221212 2 112922676 [T/C] NM_153214,NM_001128165 FBLN7,FBLN7 EXON Missense_R112W,Missense_R112W exm221213 2 112922677 [A/G] NM_153214,NM_001128165 FBLN7,FBLN7 EXON Missense_R112Q,Missense_R112Q exm221215 2 112922697 [A/G] NM_153214,NM_001128165 FBLN7,FBLN7 EXON Missense_V119M,Missense_V119M exm-IND2-112661208 2 112944738 [D/I] NM_153214,NM_001128165 FBLN7,FBLN7 EXON exm221250 2 112944754 [T/C] NM_153214,NM_001128165 FBLN7,FBLN7 EXON Missense_R331C,Missense_R285C exm221251 2 112944755 [A/G] NM_153214,NM_001128165 FBLN7,FBLN7 EXON Missense_R331H,Missense_R285H exm221261 2 112944889 [A/G] NM_153214,NM_001128165 FBLN7,FBLN7 EXON Missense_V376M,Missense_V330M exm221264 2 112944907 [A/G] NM_153214,NM_001128165 FBLN7,FBLN7 EXON Missense_G382S,Missense_G336S exm221269 2 112944997 [A/G] NM_153214,NM_001128165 FBLN7,FBLN7 EXON Missense_V412I,Missense_V366I exm221283 2 112990912 [T/C] NM_032494 ZC3H8 EXON Missense_E220K exm1975753 2 112990918 [C/G] NM_032494 ZC3H8 EXON Missense_E218Q exm221291 2 112991812 [T/C] NM_032494 ZC3H8 EXON Missense_D169G exm221292 2 112995893 [T/C] NM_032494 ZC3H8 EXON Synonymous_Q123Q exm221301 2 112996068 [T/C] NM_032494 ZC3H8 EXON Missense_H65R exm221306 2 113007785 [T/C] NM_032494 ZC3H8 EXON Missense_E47K exm221322 2 113067622 [A/G] NM_198581 ZC3H6 EXON Missense_D166G exm1975774 2 113069390 [A/G] NM_198581 ZC3H6 EXON Missense_Q208R exm1975779 2 113074074 [G/C] NM_198581 ZC3H6 EXON Missense_V259L exm221340 2 113081861 [A/T] NM_198581 ZC3H6 EXON Missense_S491R exm221346 2 113082051 [A/G] NM_198581 ZC3H6 EXON Missense_G555S exm221351 2 113082151 [A/G] NM_198581 ZC3H6 EXON Missense_Y588C exm221354 2 113082216 [T/G] NM_198581 ZC3H6 EXON Missense_F610V exm221356 2 113082564 [T/G] NM_198581 ZC3H6 EXON Missense_A626S exm221364 2 113088878 [T/C] NM_198581 ZC3H6 EXON Missense_H795Y exm221389 2 113089799 [A/C] NM_198581 ZC3H6 EXON Missense_N1102H exm221391 2 113089839 [T/C] NM_198581 ZC3H6 EXON Missense_A1115V exm2269119 2 113251000 [T/C] NM_153712 TTL Silent exm1975856 2 113251800 [A/G] NM_153712 TTL EXON Missense_K106R exm221434 2 113251880 [A/G] NM_153712 TTL EXON Missense_A133T exm221437 2 113251910 [A/G] NM_153712 TTL EXON Missense_E143K exm221467 2 113300078 [T/C] NM_001137604,NM_019014 POLR1B,POLR1B EXON Missense_P3S,Missense_P3S exm221485 2 113305101 [A/G] NM_001137604,NM_019014 POLR1B,POLR1B EXON Missense_N94S,Missense_N150S exm221502 2 113309473 [T/C] NM_001137604,NM_019014 POLR1B,POLR1B EXON Missense_S239L,Missense_S295L exm221506 2 113309560 [T/C] NM_001137604,NM_019014 POLR1B,POLR1B EXON Missense_A268V,Missense_A324V exm221509 2 113310346 [A/C] NM_001137604,NM_019014 POLR1B,POLR1B EXON Missense_N315H,Missense_N371H exm221528 2 113321944 [G/C] NM_001137604,NM_019014 POLR1B,POLR1B EXON Synonymous_G482G,Synonymous_G538G exm221534 2 113321997 [T/C] NM_001137604,NM_019014 POLR1B,POLR1B EXON Missense_V500A,Missense_V556A exm221536 2 113322014 [A/G] NM_001137604,NM_019014 POLR1B,POLR1B EXON Missense_M506V,Missense_M562V exm221537 2 113322032 [A/G] NM_001137604,NM_019014 POLR1B,POLR1B EXON Missense_K512E,Missense_K568E exm1975893 2 113322045 [T/C] NM_001137604,NM_019014 POLR1B,POLR1B EXON Missense_P516L,Missense_P572L exm221540 2 113322066 [A/G] NM_001137604,NM_019014 POLR1B,POLR1B EXON Missense_R523H,Missense_R579H exm221546 2 113326348 [A/T] NM_001137604,NM_019014 POLR1B,POLR1B EXON Missense_E592V,Missense_E648V exm221567 2 113332498 [T/C] NM_001137604,NM_019014 POLR1B,POLR1B EXON Missense_V811A,Missense_V867A exm221569 2 113332530 [A/G] NM_001137604,NM_019014 POLR1B,POLR1B EXON Missense_T822A,Missense_T878A exm221578 2 113332692 [A/G] NM_001137604,NM_019014 POLR1B,POLR1B EXON Missense_S876G,Missense_S932G exm2254468 2 113332898 [A/G] NM_001137604,NM_019014 POLR1B,POLR1B EXON Synonymous_Q944Q,Synonymous_Q1000Q exm221593 2 113333172 [T/C] NM_001137604,NM_019014 POLR1B,POLR1B EXON Missense_R1036C,Missense_R1092C exm221598 2 113333296 [A/G] NM_001137604,NM_019014 POLR1B,POLR1B EXON Missense_D1077G,Missense_D1133G exm221605 2 113343576 [T/C] NM_032309 CHCHD5 EXON Missense_R10C exm221607 2 113343643 [A/G] NM_032309 CHCHD5 EXON Missense_R32Q exm221616 2 113343869 [A/G] NM_032309 CHCHD5 EXON Missense_C79Y exm221617 2 113343886 [T/C] NM_032309 CHCHD5 EXON Missense_R85C exm2265342 2 113389232 [A/G] exm221638 2 113404460 [A/G] NM_005415 SLC20A1 EXON Missense_V19M exm221655 2 113410374 [A/G] NM_005415 SLC20A1 EXON Synonymous_P219P exm221674 2 113416783 [A/G] NM_005415 SLC20A1 EXON Missense_A351T exm221691 2 113418056 [A/G] NM_005415 SLC20A1 EXON Missense_Y567C exm221735 2 113496452 [T/C] NM_152515 CKAP2L EXON Missense_R729H exm221736 2 113496453 [A/G] NM_152515 CKAP2L EXON Missense_R729C exm221737 2 113496465 [T/A] NM_152515 CKAP2L EXON Missense_C725S exm2236140 2 113496520 [T/A] NM_152515 CKAP2L EXON Missense_E706D exm221741 2 113496554 [T/C] NM_152515 CKAP2L EXON Missense_R695Q exm221755 2 113498566 [A/G] NM_152515 CKAP2L EXON Missense_L614S exm221765 2 113509891 [T/C] NM_152515 CKAP2L EXON Missense_S519G exm2254469 2 113510045 [T/C] NM_152515 CKAP2L EXON Synonymous_Q467Q exm221780 2 113513738 [T/C] NM_152515 CKAP2L EXON Missense_N404D exm221785 2 113513803 [G/C] NM_152515 CKAP2L EXON Missense_T382R exm221787 2 113513825 [T/C] NM_152515 CKAP2L EXON Missense_I375V exm221789 2 113513842 [A/G] NM_152515 CKAP2L EXON Missense_L369P exm221792 2 113513993 [A/G] NM_152515 CKAP2L EXON Missense_R319W exm221793 2 113514026 [T/C] NM_152515 CKAP2L EXON Missense_S308G exm221794 2 113514097 [T/C] NM_152515 CKAP2L EXON Missense_R284Q exm221797 2 113514125 [A/C] NM_152515 CKAP2L EXON Missense_S275A exm221811 2 113514563 [A/G] NM_152515 CKAP2L EXON Missense_S129P exm1975998 2 113514689 [G/C] NM_152515 CKAP2L EXON Missense_G87R exm221823 2 113514763 [T/C] NM_152515 CKAP2L EXON Missense_N62S exm221826 2 113514786 [A/C] NM_152515 CKAP2L EXON Missense_I54M exm221834 2 113520107 [T/C] NM_152515 CKAP2L EXON Missense_K26R exm221835 2 113520129 [A/G] NM_152515 CKAP2L EXON Missense_L19F exm-rs6542095 2 113529183 [T/C] exm221849 2 113535640 [T/A] NM_000575 IL1A EXON Missense_I180N exm221856 2 113537151 [T/C] NM_000575 IL1A EXON Missense_D138N exm221860 2 113537190 [T/C] NM_000575 IL1A EXON Missense_N125D exm221862 2 113537223 [A/C] NM_000575 IL1A EXON Missense_A114S exm221863 2 113539192 [T/A] NM_000575 IL1A EXON Missense_D103V exm221864 2 113539199 [T/C] NM_000575 IL1A EXON Missense_A101T exm221867 2 113539232 [T/G] NM_000575 IL1A EXON Missense_Q90K exm221868 2 113539240 [C/G] NM_000575 IL1A EXON Missense_S87T exm221870 2 113539246 [T/C] NM_000575 IL1A EXON Missense_R85Q exm221871 2 113539268 [T/C] NM_000575 IL1A EXON Missense_G78R exm221875 2 113539363 [G/C] NM_000575 IL1A EXON Missense_G46A exm221878 2 113540315 [A/G] NM_000575 IL1A EXON Missense_I25T exm221886 2 113541307 [C/G] NM_000575 IL1A EXON Missense_C14S exm2265188 2 113594387 [A/G] exm221930 2 113670627 [A/G] NM_014439,NM_173202,NM_173204,NM_173203 IL37,IL37,IL37,IL37 EXON Missense_G13D,Missense_G13D,Missense_G13D,Missense_G13D exm221931 2 113671372 [T/C] NM_014439,NM_173202,NM_173204,NM_173203 IL37,IL37,IL37,IL37 EXON Missense_P29L,Silent,Missense_P29L,Silent exm221933 2 113671389 [T/G] NM_014439,NM_173202,NM_173204,NM_173203 IL37,IL37,IL37,IL37 EXON Nonsense_E35X,Silent,Nonsense_E35X,Silent exm221935 2 113671410 [A/G] NM_014439,NM_173202,NM_173204,NM_173203 IL37,IL37,IL37,IL37 EXON Missense_T42A,Silent,Missense_T42A,Silent exm221938 2 113672812 [A/G] NM_014439,NM_173202,NM_173204,NM_173203,NM_173205 IL37,IL37,IL37,IL37,IL37 EXON Silent,Silent,Silent,Silent,Missense_N15D exm221941 2 113674721 [A/G] NM_014439,NM_173202,NM_173204,NM_173203,NM_173205 IL37,IL37,IL37,IL37,IL37 EXON Missense_N54S,Missense_N33S,Silent,Silent,Missense_N28S exm221947 2 113675269 [T/C] NM_014439,NM_173202,NM_173204,NM_173203,NM_173205 IL37,IL37,IL37,IL37,IL37 EXON Missense_P108L,Missense_P87L,Missense_P68L,Missense_P47L,Missense_P82L exm221949 2 113675343 [T/C] NM_014439,NM_173202,NM_173204,NM_173203,NM_173205 IL37,IL37,IL37,IL37,IL37 EXON Missense_L133F,Missense_L112F,Missense_L93F,Missense_L72F,Missense_L107F exm221951 2 113675354 [A/G] NM_014439,NM_173202,NM_173204,NM_173203,NM_173205 IL37,IL37,IL37,IL37,IL37 EXON Synonymous_K136K,Synonymous_K115K,Synonymous_K96K,Synonymous_K75K,Synonymous_K110K exm221955 2 113676183 [T/C] NM_014439,NM_173202,NM_173204,NM_173203,NM_173205 IL37,IL37,IL37,IL37,IL37 EXON Missense_R152W,Missense_R131W,Missense_R112W,Missense_R91W,Missense_R126W exm221956 2 113676187 [A/C] NM_014439,NM_173202,NM_173204,NM_173203,NM_173205 IL37,IL37,IL37,IL37,IL37 EXON Missense_P153H,Missense_P132H,Missense_P113H,Missense_P92H,Missense_P127H exm221959 2 113676219 [T/C] NM_014439,NM_173202,NM_173204,NM_173203,NM_173205 IL37,IL37,IL37,IL37,IL37 EXON Missense_W164R,Missense_W143R,Missense_W124R,Missense_W103R,Missense_W138R exm1976057 2 113676304 [T/A] NM_014439,NM_173202,NM_173204,NM_173203,NM_173205 IL37,IL37,IL37,IL37,IL37 EXON Missense_K192I,Missense_K171I,Missense_K152I,Missense_K131I,Missense_K166I exm221967 2 113676381 [A/G] NM_014439,NM_173202,NM_173204,NM_173203,NM_173205 IL37,IL37,IL37,IL37,IL37 EXON Missense_D218N,Missense_D197N,Missense_D178N,Missense_D157N,Missense_D192N exm1976061 2 113736265 [A/C] NM_019618 IL36G EXON Missense_Q17P exm2254470 2 113736850 [T/C] NM_019618 IL36G EXON Synonymous_T36T exm221972 2 113737609 [A/G] NM_019618 IL36G EXON Missense_K62E exm221973 2 113737630 [A/C] NM_019618 IL36G EXON Missense_Q69K exm221976 2 113737684 [T/C] NM_019618 IL36G EXON Missense_Y87H exm221980 2 113742447 [T/C] NM_019618 IL36G EXON Missense_P111S exm221981 2 113742456 [A/G] NM_019618 IL36G EXON Missense_V114M exm221987 2 113763575 [A/G] NM_014440 IL36A EXON Missense_Q12R exm221989 2 113763653 [A/G] NM_014440 IL36A EXON Missense_R38H exm221991 2 113764181 [T/C] NM_014440 IL36A EXON Missense_I44T exm221995 2 113764238 [T/C] NM_014440 IL36A EXON Missense_I63T exm221997 2 113764243 [A/C] NM_014440 IL36A EXON Missense_L65M exm222001 2 113765467 [A/G] NM_014440 IL36A EXON Missense_Y108C exm222003 2 113765544 [A/G] NM_014440 IL36A EXON Missense_G134R exm222006 2 113765587 [A/T] NM_014440 IL36A EXON Missense_N148I exm1976088 2 113780271 [T/C] NM_014438 IL36B EXON Missense_G159R exm222010 2 113780274 [T/C] NM_014438 IL36B EXON Missense_I158V exm222015 2 113783678 [A/G] NM_014438 IL36B Silent exm222019 2 113783743 [T/C] NM_014438 IL36B EXON Missense_I110V exm222020 2 113783787 [A/G] NM_014438 IL36B EXON Missense_I95T exm222021 2 113783803 [T/C] NM_014438 IL36B EXON Missense_G90S exm222022 2 113785602 [A/G] NM_014438,NM_173178 IL36B,IL36B EXON Silent,Nonsense_Q118X exm222024 2 113785655 [T/G] NM_014438,NM_173178 IL36B,IL36B EXON Silent,Missense_A100E exm222026 2 113785683 [T/C] NM_014438,NM_173178 IL36B,IL36B EXON Silent,Missense_I91V exm222039 2 113788640 [A/G] NM_014438,NM_173178 IL36B,IL36B EXON Missense_R36C,Missense_R36C exm222040 2 113788694 [A/G] NM_014438,NM_173178 IL36B,IL36B EXON Nonsense_R18X,Nonsense_R18X exm222041 2 113788702 [T/C] NM_014438,NM_173178 IL36B,IL36B EXON Missense_R15H,Missense_R15H exm2236147 2 113818479 [T/C] NM_173170,NM_012275 IL36RN,IL36RN EXON Missense_L27P,Missense_L27P exm222055 2 113818503 [A/G] NM_173170,NM_012275 IL36RN,IL36RN EXON Missense_K35R,Missense_K35R exm222057 2 113819721 [T/C] NM_173170,NM_012275 IL36RN,IL36RN EXON Missense_P46S,Missense_P46S exm222061 2 113819725 [A/G] NM_173170,NM_012275 IL36RN,IL36RN EXON Missense_N47S,Missense_N47S exm222062 2 113819727 [T/C] NM_173170,NM_012275 IL36RN,IL36RN EXON Missense_R48W,Missense_R48W exm222065 2 113819754 [A/G] NM_173170,NM_012275 IL36RN,IL36RN EXON Missense_V57I,Missense_V57I exm222067 2 113819812 [T/C] NM_173170,NM_012275 IL36RN,IL36RN EXON Missense_P76L,Missense_P76L exm1976103 2 113820031 [T/C] NM_173170,NM_012275 IL36RN,IL36RN EXON Missense_P82L,Missense_P82L exm222080 2 113820124 [T/C] NM_173170,NM_012275 IL36RN,IL36RN EXON Missense_S113L,Missense_S113L exm222097 2 113830347 [T/G] NM_173161,NM_032556 IL1F10,IL1F10 EXON Missense_I11R,Missense_I11R exm222102 2 113831941 [A/G] NM_173161,NM_032556 IL1F10,IL1F10 EXON Missense_R23K,Missense_R23K exm222105 2 113831964 [A/G] NM_173161,NM_032556 IL1F10,IL1F10 EXON Missense_D31N,Missense_D31N exm222108 2 113832312 [T/C] NM_173161,NM_032556 IL1F10,IL1F10 EXON Missense_I44T,Missense_I44T exm222114 2 113832365 [T/C] NM_173161,NM_032556 IL1F10,IL1F10 EXON Nonsense_Q62X,Nonsense_Q62X exm222119 2 113832774 [T/C] NM_173161,NM_032556 IL1F10,IL1F10 EXON Missense_R98C,Missense_R98C exm-rs6734238 2 113841030 [A/G] exm222172 2 113888688 [T/G] NM_000577,NM_173841,NM_173843,NM_173842 IL1RN,IL1RN,IL1RN,IL1RN EXON Missense_C73F,Missense_C94F,Missense_C57F,Missense_C91F exm222179 2 113890284 [A/G] NM_000577,NM_173841,NM_173843,NM_173842 IL1RN,IL1RN,IL1RN,IL1RN EXON Missense_A106T,Missense_A127T,Missense_A90T,Missense_A124T exm2254472 2 113890304 [T/C] NM_000577,NM_173841,NM_173843,NM_173842 IL1RN,IL1RN,IL1RN,IL1RN EXON Synonymous_S112S,Synonymous_S133S,Synonymous_S96S,Synonymous_S130S exm222182 2 113890304 [T/C] NM_000577,NM_173841,NM_173843,NM_173842 IL1RN,IL1RN,IL1RN,IL1RN EXON Synonymous_S112S,Synonymous_S133S,Synonymous_S96S,Synonymous_S130S exm222194 2 113890443 [A/G] NM_000577,NM_173841,NM_173843,NM_173842 IL1RN,IL1RN,IL1RN,IL1RN EXON Missense_E159K,Missense_E180K,Missense_E143K,Missense_E177K exm222198 2 113940062 [A/G] NM_012455 PSD4 EXON Missense_H10R exm222199 2 113940065 [A/C] NM_012455 PSD4 EXON Missense_P11H exm222205 2 113940172 [A/G] NM_012455 PSD4 EXON Missense_E47K exm222209 2 113940253 [T/C] NM_012455 PSD4 EXON Missense_H74Y exm222225 2 113940476 [A/G] NM_012455 PSD4 EXON Missense_R148Q exm222244 2 113940730 [T/C] NM_012455 PSD4 EXON Missense_S233P exm222246 2 113940784 [T/G] NM_012455 PSD4 EXON Missense_F251V exm222248 2 113940839 [G/C] NM_012455 PSD4 EXON Missense_G269A exm222255 2 113940916 [A/G] NM_012455 PSD4 EXON Missense_T295A exm222257 2 113940958 [A/G] NM_012455 PSD4 EXON Missense_G309S exm222259 2 113940985 [G/C] NM_012455 PSD4 EXON Missense_P318A exm2273816 2 113941045 [A/G] NM_012455 PSD4 EXON Missense_A338T exm222262 2 113941048 [A/G] NM_012455 PSD4 EXON Missense_E339K exm222267 2 113942571 [A/G] NM_012455 PSD4 EXON Missense_C365Y exm222279 2 113942941 [A/G] NM_012455 PSD4 Silent exm222282 2 113942978 [T/C] NM_012455 PSD4 EXON Missense_P404S exm222292 2 113943571 [G/C] NM_012455 PSD4 EXON Missense_P456R exm222295 2 113943672 [T/C] NM_012455 PSD4 EXON Missense_S490P exm222296 2 113943688 [T/C] NM_012455 PSD4 EXON Missense_T495M exm222302 2 113949974 [T/C] NM_012455 PSD4 EXON Missense_P549L exm222308 2 113950108 [T/C] NM_012455 PSD4 EXON Missense_R594C exm222309 2 113950118 [A/G] NM_012455 PSD4 EXON Missense_R597H exm222315 2 113950696 [A/G] NM_012455 PSD4 EXON Missense_R637Q exm222320 2 113950887 [A/G] NM_012455 PSD4 EXON Missense_I658V exm222329 2 113951440 [T/C] NM_012455 PSD4 EXON Missense_I699T exm222345 2 113953836 [A/C] NM_012455 PSD4 EXON Missense_Q780K exm222393 2 113958972 [T/C] NM_012455 PSD4 EXON Missense_R1051W exm222394 2 113958973 [A/G] NM_012455 PSD4 EXON Missense_R1051Q exm222400 2 113977678 [T/C] NM_013952,NM_013992,NM_013953,NM_003466 PAX8,PAX8,PAX8,PAX8 EXON Synonymous_P396P,Synonymous_P285P,Synonymous_P319P,Missense_S423G exm222402 2 113977703 [A/G] NM_013952,NM_013992,NM_013953,NM_003466 PAX8,PAX8,PAX8,PAX8 EXON Missense_A388V,Missense_A277V,Missense_A311V,Synonymous_S414S exm222406 2 113977718 [C/G] NM_013952,NM_013992,NM_013953,NM_003466 PAX8,PAX8,PAX8,PAX8 EXON Missense_P383R,Missense_P272R,Missense_P306R,Synonymous_P409P exm222412 2 113984771 [T/C] NM_013952,NM_013992,NM_013953,NM_003466 PAX8,PAX8,PAX8,PAX8 EXON Synonymous_R357R,Silent,Synonymous_R280R,Missense_G384S exm1976185 2 113984805 [A/G] NM_013952,NM_013992,NM_013953,NM_003466 PAX8,PAX8,PAX8,PAX8 EXON Missense_P346L,Silent,Missense_P269L,Synonymous_P372P exm222422 2 113993049 [A/C] NM_013952,NM_013992,NM_013953,NM_003466 PAX8,PAX8,PAX8,PAX8 EXON Synonymous_A310A,Silent,Silent,Missense_S337A exm222424 2 113993073 [A/G] NM_013952,NM_013992,NM_013953,NM_003466 PAX8,PAX8,PAX8,PAX8 EXON Synonymous_P302P,Silent,Silent,Missense_F329L exm222441 2 113999154 [A/G] NM_013952,NM_013992,NM_013953,NM_003466,NR_015377 PAX8,PAX8,PAX8,PAX8,LOC654433 EXON Missense_S251P,Missense_S251P,Missense_S251P,Missense_S251P,Silent exm222448 2 113999201 [A/G] NM_013952,NM_013992,NM_013953,NM_003466,NR_015377 PAX8,PAX8,PAX8,PAX8,LOC654433 EXON Missense_P235L,Missense_P235L,Missense_P235L,Missense_P235L,Silent exm222449 2 113999205 [T/C] NM_013952,NM_013992,NM_013953,NM_003466,NR_015377 PAX8,PAX8,PAX8,PAX8,LOC654433 EXON Missense_E234K,Missense_E234K,Missense_E234K,Missense_E234K,Silent exm222455 2 113999303 [T/C] NM_013952,NM_013992,NM_013953,NM_003466,NR_015377 PAX8,PAX8,PAX8,PAX8,LOC654433 EXON Missense_S201N,Missense_S201N,Missense_S201N,Missense_S201N,Silent exm222463 2 114000341 [T/C] NM_013952,NM_013992,NM_013953,NM_003466,NR_015377 PAX8,PAX8,PAX8,PAX8,LOC654433 EXON Missense_K135R,Missense_K135R,Missense_K135R,Missense_K135R,Silent exm222466 2 114002049 [T/C] NM_013952,NM_013992,NM_013953,NM_003466,NR_015377 PAX8,PAX8,PAX8,PAX8,LOC654433 EXON Missense_G115D,Missense_G115D,Missense_G115D,Missense_G115D,Silent exm2254473 2 114138771 [T/C] exm2236157 2 114256949 [T/A] NM_012184 FOXD4L1 EXON Missense_V39E exm222625 2 114476740 [T/C] NM_025181 SLC35F5 EXON Missense_R496Q exm222627 2 114476809 [T/C] NM_025181 SLC35F5 EXON Missense_H473R exm222640 2 114489182 [A/G] NM_025181 SLC35F5 EXON Missense_P322S exm222651 2 114493355 [A/G] NM_025181 SLC35F5 EXON Synonymous_S277S exm222652 2 114493367 [T/A] NM_025181 SLC35F5 EXON Missense_L273F exm222655 2 114500349 [T/C] NM_025181 SLC35F5 EXON Missense_E224K exm222665 2 114503873 [A/G] NM_025181 SLC35F5 EXON Missense_T154I exm222670 2 114508022 [A/G] NM_025181 SLC35F5 EXON Missense_R133C exm222673 2 114508109 [T/C] NM_025181 SLC35F5 EXON Missense_T104A exm222674 2 114508126 [T/C] NM_025181 SLC35F5 EXON Missense_N98S exm222677 2 114512876 [T/G] NM_025181 SLC35F5 EXON Missense_M47L exm2265189 2 114533618 [A/G] exm2265343 2 114954162 [A/G] exm-rs13014858 2 115192890 [A/G] exm2265190 2 115198886 [A/G] exm222724 2 115822349 [T/G] NM_020868,NM_001178036,NM_001178037 DPP10,DPP10,DPP10 EXON Silent,Silent,Missense_E5D exm2254482 2 115848781 [T/C] NM_020868,NM_001178036,NM_001178037 DPP10,DPP10,DPP10 Silent,Silent,Silent exm2265344 2 116026002 [A/G] NM_020868,NM_001178036,NM_001178037,NM_001178034,NM_001004360 DPP10,DPP10,DPP10,DPP10,DPP10 Silent,Silent,Silent,Silent,Silent exm222739 2 116101420 [G/C] NM_020868,NM_001178036,NM_001178037,NM_001178034,NM_001004360 DPP10,DPP10,DPP10,DPP10,DPP10 EXON Missense_R68T,Missense_R18T,Missense_R64T,Missense_R72T,Missense_R61T exm2265191 2 116251305 [A/G] NM_020868,NM_001178036,NM_001178037,NM_001178034,NM_001004360 DPP10,DPP10,DPP10,DPP10,DPP10 Silent,Silent,Silent,Silent,Silent exm222744 2 116257106 [A/G] NM_020868,NM_001178036,NM_001178037,NM_001178034,NM_001004360 DPP10,DPP10,DPP10,DPP10,DPP10 EXON Missense_S98G,Missense_S48G,Missense_S94G,Missense_S102G,Missense_S91G exm-rs984066 2 116283668 [A/G] NM_020868,NM_001178036,NM_001178037,NM_001178034,NM_001004360 DPP10,DPP10,DPP10,DPP10,DPP10 Silent,Silent,Silent,Silent,Silent exm222764 2 116485392 [A/G] NM_020868,NM_001178036,NM_001178037,NM_001178034,NM_001004360 DPP10,DPP10,DPP10,DPP10,DPP10 EXON Missense_I193V,Missense_I143V,Missense_I189V,Missense_I197V,Missense_I186V exm222778 2 116503671 [A/G] NM_020868,NM_001178036,NM_001178037,NM_001178034,NM_001004360 DPP10,DPP10,DPP10,DPP10,DPP10 EXON Missense_V288M,Missense_V238M,Missense_V284M,Missense_V292M,Missense_V281M exm222786 2 116520169 [A/G] NM_020868,NM_001178036,NM_001178037,NM_001178034,NM_001004360 DPP10,DPP10,DPP10,DPP10,DPP10 EXON Missense_T366A,Missense_T316A,Missense_T362A,Missense_T370A,Missense_T359A exm222787 2 116520170 [T/C] NM_020868,NM_001178036,NM_001178037,NM_001178034,NM_001004360 DPP10,DPP10,DPP10,DPP10,DPP10 EXON Missense_T366M,Missense_T316M,Missense_T362M,Missense_T370M,Missense_T359M exm222794 2 116525960 [A/G] NM_020868,NM_001178036,NM_001178037,NM_001178034,NM_001004360 DPP10,DPP10,DPP10,DPP10,DPP10 EXON Missense_V401I,Missense_V351I,Missense_V397I,Missense_V405I,Missense_V394I exm222801 2 116534862 [A/G] NM_020868,NM_001178036,NM_001178037,NM_001178034,NM_001004360 DPP10,DPP10,DPP10,DPP10,DPP10 EXON Missense_T434A,Missense_T384A,Missense_T430A,Missense_T438A,Missense_T427A exm222815 2 116548749 [A/G] NM_020868,NM_001178036,NM_001178037,NM_001178034,NM_001004360 DPP10,DPP10,DPP10,DPP10,DPP10 EXON Missense_D542N,Missense_D492N,Missense_D538N,Missense_D546N,Missense_D535N exm222823 2 116572469 [A/G] NM_020868,NM_001178036,NM_001178037,NM_001178034,NM_001004360 DPP10,DPP10,DPP10,DPP10,DPP10 EXON Missense_G601S,Missense_G551S,Missense_G597S,Missense_G605S,Missense_G594S exm222824 2 116572494 [T/G] NM_020868,NM_001178036,NM_001178037,NM_001178034,NM_001004360 DPP10,DPP10,DPP10,DPP10,DPP10 EXON Missense_L609R,Missense_L559R,Missense_L605R,Missense_L613R,Missense_L602R exm222827 2 116572542 [A/G] NM_020868,NM_001178036,NM_001178037,NM_001178034,NM_001004360 DPP10,DPP10,DPP10,DPP10,DPP10 EXON Missense_K625R,Missense_K575R,Missense_K621R,Missense_K629R,Missense_K618R exm222834 2 116593757 [A/G] NM_020868,NM_001178036,NM_001178037,NM_001178034,NM_001004360 DPP10,DPP10,DPP10,DPP10,DPP10 EXON Missense_M659V,Missense_M609V,Missense_M655V,Missense_M663V,Missense_M652V exm222839 2 116593831 [T/C] NM_020868,NM_001178036,NM_001178037,NM_001178034,NM_001004360 DPP10,DPP10,DPP10,DPP10,DPP10 EXON Synonymous_Y683Y,Synonymous_Y633Y,Synonymous_Y679Y,Synonymous_Y687Y,Synonymous_Y676Y exm1976522 2 116594083 [A/C] NM_020868,NM_001178036,NM_001178037,NM_001178034,NM_001004360 DPP10,DPP10,DPP10,DPP10,DPP10 EXON Missense_A684D,Missense_A634D,Missense_A680D,Missense_A688D,Missense_A677D exm222851 2 116598397 [A/C] NM_020868,NM_001178036,NM_001178037,NM_001178034,NM_001004360 DPP10,DPP10,DPP10,DPP10,DPP10 EXON Missense_Q752K,Missense_Q702K,Missense_Q748K,Missense_Q756K,Missense_Q745K exm2269309 2 116733337 [T/G] exm2269123 2 117473622 [T/C] exm2265345 2 117785135 [A/G] exm-rs1158448 2 118281844 [T/C] exm2269124 2 118365464 [T/C] exm222869 2 118575080 [A/G] NM_006773 DDX18 EXON Missense_G49E exm222871 2 118575152 [A/T] NM_006773 DDX18 EXON Missense_M73K exm222872 2 118575215 [C/G] NM_006773 DDX18 EXON Missense_T94S exm222878 2 118575304 [A/G] NM_006773 DDX18 EXON Missense_D124N exm222891 2 118578770 [A/G] NM_006773 DDX18 EXON Missense_C183Y exm222896 2 118579599 [A/G] NM_006773 DDX18 EXON Missense_I305V exm222900 2 118582189 [A/G] NM_006773 DDX18 EXON Missense_V371I exm222904 2 118582279 [G/C] NM_006773 DDX18 EXON Missense_E401Q exm2254495 2 118582650 [T/C] NM_006773 DDX18 EXON Synonymous_Y447Y exm222942 2 118588202 [A/G] NM_006773 DDX18 EXON Missense_G639S exm222946 2 118588274 [T/C] NM_006773 DDX18 EXON Missense_S663P exm222964 2 118693086 [A/C] NM_019044 CCDC93 EXON Missense_K571N exm222966 2 118693117 [T/C] NM_019044 CCDC93 EXON Missense_R561H exm222983 2 118698860 [T/C] NM_019044 CCDC93 EXON Missense_R476Q exm222985 2 118701620 [A/G] NM_019044 CCDC93 EXON Missense_Y465H exm222986 2 118701646 [T/C] NM_019044 CCDC93 EXON Missense_R456Q exm222993 2 118703139 [A/G] NM_019044 CCDC93 EXON Missense_P439L exm222997 2 118704400 [T/C] NM_019044 CCDC93 EXON Missense_R428H exm223013 2 118715997 [A/G] NM_019044 CCDC93 EXON Missense_R317W exm223030 2 118732472 [T/C] NM_019044 CCDC93 EXON Missense_R252H exm223031 2 118732473 [A/G] NM_019044 CCDC93 EXON Missense_R252C exm223035 2 118732831 [A/G] NM_019044 CCDC93 EXON Missense_P228L exm2273817 2 118732840 [A/G] NM_019044 CCDC93 EXON Missense_T225M exm223043 2 118743591 [C/G] NM_019044 CCDC93 EXON Missense_L192V exm223046 2 118743630 [A/G] NM_019044 CCDC93 EXON Missense_R179C exm223054 2 118753931 [A/C] NM_019044 CCDC93 EXON Missense_V124G exm-rs17526895 2 118815958 [A/G] exm-rs10490626 2 118835841 [A/G] exm223092 2 118864736 [A/G] NM_016133 INSIG2 EXON Missense_M203V exm223096 2 118865872 [A/T] NM_016133 INSIG2 EXON Missense_I218F exm2273360 2 118866000 [G/C] NM_016133 INSIG2 EXON Silent exm2265193 2 118924569 [A/G] exm2265347 2 119090434 [A/G] exm-rs651477 2 119395691 [T/C] exm2254500 2 119523926 [A/C] exm2273818 2 119603999 [A/C] NM_001426 EN1 EXON Missense_A249S exm2265194 2 119698057 [A/G] exm2236184 2 119699932 [T/C] NM_006770 MARCO EXON Missense_A19V exm223152 2 119699959 [T/C] NM_006770 MARCO EXON Missense_P28L exm223161 2 119727692 [C/G] NM_006770 MARCO EXON Missense_L68V exm223170 2 119727771 [T/C] NM_006770 MARCO EXON Missense_F94S exm223172 2 119727793 [C/G] NM_006770 MARCO EXON Missense_H101Q exm223173 2 119727815 [C/G] NM_006770 MARCO EXON Missense_G109R exm223182 2 119731920 [A/C] NM_006770 MARCO EXON Missense_H158N exm223183 2 119731929 [A/G] NM_006770 MARCO EXON Missense_A161T exm223188 2 119731960 [T/C] NM_006770 MARCO EXON Missense_P171L exm223194 2 119732139 [T/C] NM_006770 MARCO EXON Missense_A204V exm223199 2 119735052 [T/C] NM_006770 MARCO EXON Nonsense_Q207X exm223209 2 119739077 [T/C] NM_006770 MARCO EXON Missense_P287S exm1977029 2 119739738 [T/C] NM_006770 MARCO EXON Missense_P303L exm223222 2 119739783 [G/C] NM_006770 MARCO EXON Missense_P318R exm223229 2 119739941 [T/G] NM_006770 MARCO EXON Missense_G340W exm223243 2 119749403 [A/C] NM_006770 MARCO EXON Missense_K387Q exm223255 2 119751989 [A/G] NM_006770 MARCO EXON Missense_V486I exm223259 2 119752064 [A/G] NM_006770 MARCO EXON Missense_E511K exm223263 2 119752091 [A/G] NM_006770 MARCO EXON Missense_V520I exm2261008 2 119816228 [T/C] exm-rs17189298 2 119845317 [A/G] exm223305 2 120003085 [A/G] NM_182915,NM_001008410,NM_018234 STEAP3,STEAP3,STEAP3 EXON Missense_M15V,Missense_M5V,Missense_M5V exm223307 2 120003090 [A/C] NM_182915,NM_001008410,NM_018234 STEAP3,STEAP3,STEAP3 EXON Missense_D16E,Missense_D6E,Missense_D6E exm223308 2 120003094 [A/C] NM_182915,NM_001008410,NM_018234 STEAP3,STEAP3,STEAP3 EXON Missense_P18T,Missense_P8T,Missense_P8T exm223311 2 120003148 [A/G] NM_182915,NM_001008410,NM_018234 STEAP3,STEAP3,STEAP3 EXON Missense_D36N,Missense_D26N,Missense_D26N exm223320 2 120003259 [T/C] NM_182915,NM_001008410,NM_018234 STEAP3,STEAP3,STEAP3 EXON Missense_R73C,Missense_R63C,Missense_R63C exm223323 2 120003302 [A/G] NM_182915,NM_001008410,NM_018234 STEAP3,STEAP3,STEAP3 EXON Missense_Q87R,Missense_Q77R,Missense_Q77R exm223329 2 120003421 [G/C] NM_182915,NM_001008410,NM_018234 STEAP3,STEAP3,STEAP3 EXON Missense_P127A,Missense_P117A,Missense_P117A exm223330 2 120003463 [A/G] NM_182915,NM_001008410,NM_018234 STEAP3,STEAP3,STEAP3 EXON Missense_E141K,Missense_E131K,Missense_E131K exm2236185 2 120003564 [A/G] NM_182915,NM_001008410,NM_018234 STEAP3,STEAP3,STEAP3 EXON Synonymous_Q174Q,Synonymous_Q164Q,Synonymous_Q164Q exm223335 2 120005267 [A/G] NM_182915,NM_001008410,NM_018234 STEAP3,STEAP3,STEAP3 EXON Missense_G179S,Missense_G169S,Missense_G169S exm223341 2 120005312 [A/G] NM_182915,NM_001008410,NM_018234 STEAP3,STEAP3,STEAP3 EXON Missense_A194T,Missense_A184T,Missense_A184T exm223342 2 120005330 [A/G] NM_182915,NM_001008410,NM_018234 STEAP3,STEAP3,STEAP3 EXON Missense_V200M,Missense_V190M,Missense_V190M exm223345 2 120005409 [T/C] NM_182915,NM_001008410,NM_018234 STEAP3,STEAP3,STEAP3 EXON Missense_T226I,Missense_T216I,Missense_T216I exm223346 2 120005432 [A/G] NM_182915,NM_001008410,NM_018234 STEAP3,STEAP3,STEAP3 EXON Missense_V234I,Missense_V224I,Missense_V224I exm223347 2 120005456 [A/G] NM_182915,NM_001008410,NM_018234 STEAP3,STEAP3,STEAP3 EXON Missense_V242I,Missense_V232I,Missense_V232I exm223355 2 120005555 [A/G] NM_182915,NM_001008410,NM_018234 STEAP3,STEAP3,STEAP3 EXON Missense_V275M,Missense_V265M,Missense_V265M exm223356 2 120005562 [T/C] NM_182915,NM_001008410,NM_018234 STEAP3,STEAP3,STEAP3 EXON Missense_L277P,Missense_L267P,Missense_L267P exm2254501 2 120005569 [T/C] NM_182915,NM_001008410,NM_018234 STEAP3,STEAP3,STEAP3 EXON Synonymous_L279L,Synonymous_L269L,Synonymous_L269L exm223362 2 120005613 [A/G] NM_182915,NM_001008410,NM_018234 STEAP3,STEAP3,STEAP3 EXON Missense_R294H,Missense_R284H,Missense_R284H exm223365 2 120005631 [A/G] NM_182915,NM_001008410,NM_018234 STEAP3,STEAP3,STEAP3 EXON Missense_R300H,Missense_R290H,Missense_R290H exm223376 2 120005733 [T/C] NM_182915,NM_001008410,NM_018234 STEAP3,STEAP3,STEAP3 EXON Missense_P334L,Missense_P324L,Missense_P324L exm223377 2 120005738 [T/C] NM_182915,NM_001008410,NM_018234 STEAP3,STEAP3,STEAP3 EXON Missense_R336C,Missense_R326C,Missense_R326C exm223378 2 120005739 [A/G] NM_182915,NM_001008410,NM_018234 STEAP3,STEAP3,STEAP3 EXON Missense_R336H,Missense_R326H,Missense_R326H exm223381 2 120005751 [A/G] NM_182915,NM_001008410,NM_018234 STEAP3,STEAP3,STEAP3 EXON Missense_R340H,Missense_R330H,Missense_R330H exm223387 2 120012405 [A/G] NM_182915,NM_001008410,NM_018234 STEAP3,STEAP3,STEAP3 EXON Missense_R399K,Missense_R389K,Missense_R389K exm2254503 2 120012412 [T/C] NM_182915,NM_001008410,NM_018234 STEAP3,STEAP3,STEAP3 EXON Synonymous_F401F,Synonymous_F391F,Synonymous_F391F exm223389 2 120012419 [A/G] NM_182915,NM_001008410,NM_018234 STEAP3,STEAP3,STEAP3 EXON Missense_V404I,Missense_V394I,Missense_V394I exm223394 2 120020634 [T/C] NM_182915,NM_001008410,NM_018234 STEAP3,STEAP3,STEAP3 EXON Missense_S406F,Missense_S396F,Missense_S396F exm223397 2 120020676 [T/C] NM_182915,NM_001008410,NM_018234 STEAP3,STEAP3,STEAP3 EXON Missense_T420M,Missense_T410M,Missense_T410M exm223403 2 120020715 [A/G] NM_182915,NM_001008410,NM_018234 STEAP3,STEAP3,STEAP3 EXON Missense_R433H,Missense_R423H,Missense_R423H exm223407 2 120020762 [A/C] NM_182915,NM_001008410,NM_018234 STEAP3,STEAP3,STEAP3 EXON Missense_P449T,Missense_P439T,Missense_P439T exm223412 2 120020868 [T/C] NM_182915,NM_001008410,NM_018234 STEAP3,STEAP3,STEAP3 EXON Missense_T484M,Missense_T474M,Missense_T474M exm223415 2 120020894 [A/G] NM_182915,NM_001008410,NM_018234 STEAP3,STEAP3,STEAP3 EXON Missense_E493K,Missense_E483K,Missense_E483K exm223420 2 120060082 [T/C] NM_001017927 C2orf76 EXON Missense_K116R exm223422 2 120069198 [A/C] NM_001017927 C2orf76 EXON Missense_A102S exm223423 2 120069199 [A/G] NM_001017927 C2orf76 EXON Synonymous_I101I exm223425 2 120069241 [T/G] NM_001017927 C2orf76 EXON Missense_R87S exm223431 2 120075044 [T/C] NM_001017927 C2orf76 EXON Missense_K74E exm223436 2 120078778 [T/C] NM_001017927 C2orf76 EXON Missense_I46V exm223437 2 120097418 [T/C] NM_001017927 C2orf76 EXON Missense_V40I exm223450 2 120125058 [T/C] NM_001079862,NM_001178041,NM_001178043,NM_020548,NM_001178042,NM_001178017 DBI,DBI,DBI,DBI,DBI,DBI EXON Silent,Missense_A30V,Silent,Silent,Silent,Missense_A49V exm223467 2 120125838 [G/C] NM_001079862,NM_001178041,NM_001178043,NM_020548,NM_001178042,NM_001178017,NM_001079863 DBI,DBI,DBI,DBI,DBI,DBI,DBI EXON Missense_I28M,Missense_I70M,Missense_I38M,Missense_I45M,Missense_I45M,Missense_I89M,Missense_I29M exm223472 2 120125869 [A/G] NM_001079862,NM_001178041,NM_001178043,NM_020548,NM_001178042,NM_001178017,NM_001079863 DBI,DBI,DBI,DBI,DBI,DBI,DBI EXON Missense_D39N,Missense_D81N,Missense_D49N,Missense_D56N,Missense_D56N,Missense_D100N,Missense_D40N exm223480 2 120128318 [T/C] NM_001079862,NM_001178041,NM_001178043,NM_020548,NM_001178042,NM_001178017,NM_001079863 DBI,DBI,DBI,DBI,DBI,DBI,DBI EXON Missense_R44W,Missense_R86W,Missense_R54W,Missense_R61W,Missense_R61W,Missense_R105W,Missense_R45W exm223483 2 120128340 [T/C] NM_001079862,NM_001178041,NM_001178043,NM_020548,NM_001178042,NM_001178017,NM_001079863 DBI,DBI,DBI,DBI,DBI,DBI,DBI EXON Missense_T51M,Missense_T93M,Missense_T61M,Missense_T68M,Missense_T68M,Missense_T112M,Missense_T52M exm223485 2 120129841 [A/G] NM_001079862,NM_001178041,NM_001178043,NM_020548,NM_001178042,NM_001178017,NM_001079863 DBI,DBI,DBI,DBI,DBI,DBI,DBI EXON Missense_M71V,Missense_M113V,Missense_M81V,Missense_M88V,Missense_M88V,Missense_M132V,Missense_M72V exm223487 2 120129886 [A/G] NM_001079862,NM_001178041,NM_001178043,NM_020548,NM_001178042,NM_001178017,NM_001079863 DBI,DBI,DBI,DBI,DBI,DBI,DBI EXON Missense_G86R,Missense_G128R,Missense_G96R,Missense_G103R,Missense_G103R,Missense_G147R,Missense_G87R exm223491 2 120194492 [A/C] NM_183240 TMEM37 EXON Missense_P17T exm223493 2 120194499 [A/G] NM_183240 TMEM37 EXON Missense_R19Q exm223500 2 120194651 [A/C] NM_183240 TMEM37 EXON Missense_T70P exm223507 2 120194673 [A/G] NM_183240 TMEM37 EXON Missense_G77D exm223514 2 120194723 [A/G] NM_183240 TMEM37 EXON Missense_V94M exm223515 2 120194727 [A/G] NM_183240 TMEM37 EXON Missense_G95D exm223521 2 120194744 [T/G] NM_183240 TMEM37 EXON Missense_A101S exm223524 2 120194849 [A/G] NM_183240 TMEM37 EXON Missense_V136I exm223539 2 120197784 [A/G] NM_002980 SCTR EXON Missense_F411S exm223548 2 120199149 [T/G] NM_002980 SCTR EXON Nonsense_C389X exm223554 2 120204387 [T/C] NM_002980 SCTR EXON Missense_E363G exm1977159 2 120206317 [T/G] NM_002980 SCTR EXON Missense_M321L exm223563 2 120206344 [A/G] NM_002980 SCTR EXON Missense_L312F exm223565 2 120209612 [A/G] NM_002980 SCTR EXON Missense_R299C exm223566 2 120209633 [T/C] NM_002980 SCTR EXON Missense_A292T exm223572 2 120210906 [T/C] NM_002980 SCTR EXON Missense_V270I exm223573 2 120210923 [A/C] NM_002980 SCTR EXON Missense_G264V exm223576 2 120219480 [T/C] NM_002980 SCTR EXON Missense_A245T exm223577 2 120219521 [G/C] NM_002980 SCTR EXON Missense_S231C exm223593 2 120231031 [A/G] NM_002980 SCTR EXON Missense_R135W exm223598 2 120231050 [T/G] NM_002980 SCTR EXON Missense_N128K exm223600 2 120231061 [T/C] NM_002980 SCTR EXON Missense_V125I exm2236187 2 120231070 [G/C] NM_002980 SCTR EXON Missense_A122P exm223603 2 120231106 [T/C] NM_002980 SCTR EXON Missense_D110N exm223610 2 120236437 [A/G] NM_002980 SCTR EXON Missense_M84T exm223616 2 120252016 [A/G] NM_002980 SCTR EXON Nonsense_Q61X exm223625 2 120281735 [T/C] NM_002980 SCTR EXON Missense_H23R exm2265195 2 120288038 [A/G] exm-rs2587695 2 120321817 [A/G] NR_073132,NR_073133,NM_001271049 PCDP1,PCDP1,PCDP1 Silent,Silent,Silent exm223637 2 120362492 [T/C] NR_073132,NR_073133,NM_001271049 PCDP1,PCDP1,PCDP1 EXON Silent,Silent,Missense_S318L exm223639 2 120362518 [T/G] NR_073132,NR_073133,NM_001271049 PCDP1,PCDP1,PCDP1 EXON Silent,Silent,Missense_L327V exm1977197 2 120369259 [A/G] NR_073132,NR_073133,NM_001271049 PCDP1,PCDP1,PCDP1 EXON Silent,Silent,Missense_E418K exm223654 2 120369318 [A/G] NR_073132,NR_073133,NM_001271049 PCDP1,PCDP1,PCDP1 EXON Silent,Silent,Synonymous_E437E exm223672 2 120387515 [A/C] NR_073132,NR_073133,NM_001271049 PCDP1,PCDP1,PCDP1 EXON Silent,Silent,Missense_S572Y exm223681 2 120388231 [A/G] NR_073132,NR_073133,NM_001271049 PCDP1,PCDP1,PCDP1 EXON Silent,Silent,Missense_R606Q exm223686 2 120388412 [A/G] NR_073132,NR_073133,NM_001271049 PCDP1,PCDP1,PCDP1 EXON Silent,Silent,Missense_V637I exm223689 2 120388462 [A/T] NR_073132,NR_073133,NM_001271049 PCDP1,PCDP1,PCDP1 EXON Silent,Silent,Missense_D653E exm223700 2 120395949 [A/G] NR_073132,NM_001271049 PCDP1,PCDP1 EXON Silent,Missense_G697R exm223701 2 120397363 [A/G] NR_073132,NM_001271049 PCDP1,PCDP1 EXON Silent,Missense_I714V exm223702 2 120397369 [A/G] NR_073132,NM_001271049 PCDP1,PCDP1 EXON Silent,Missense_G716R exm223714 2 120409616 [T/G] NR_073132,NM_001271049 PCDP1,PCDP1 EXON Silent,Missense_M795I exm223716 2 120413960 [T/C] NR_073132,NM_001271049 PCDP1,PCDP1 EXON Silent,Missense_P813S exm223718 2 120413972 [A/G] NR_073132,NM_001271049 PCDP1,PCDP1 EXON Silent,Missense_A817T exm223720 2 120413984 [G/C] NR_073132,NM_001271049 PCDP1,PCDP1 EXON Silent,Missense_L821V exm223726 2 120414023 [A/G] NR_073132,NM_001271049 PCDP1,PCDP1 EXON Silent,Missense_N834D exm223735 2 120438515 [G/C] NM_030577,NM_001105198,NM_001105199 TMEM177,TMEM177,TMEM177 EXON Missense_G29A,Missense_G29A,Missense_G29A exm223736 2 120438521 [T/C] NM_030577,NM_001105198,NM_001105199 TMEM177,TMEM177,TMEM177 EXON Missense_P31L,Missense_P31L,Missense_P31L exm223737 2 120438523 [A/G] NM_030577,NM_001105198,NM_001105199 TMEM177,TMEM177,TMEM177 EXON Missense_I32V,Missense_I32V,Missense_I32V exm223739 2 120438534 [A/C] NM_030577,NM_001105198,NM_001105199 TMEM177,TMEM177,TMEM177 EXON Missense_H35Q,Missense_H35Q,Missense_H35Q exm223742 2 120438671 [A/G] NM_030577,NM_001105198,NM_001105199 TMEM177,TMEM177,TMEM177 EXON Missense_K81R,Missense_K81R,Missense_K81R exm223746 2 120438838 [A/G] NM_030577,NM_001105198,NM_001105199 TMEM177,TMEM177,TMEM177 EXON Missense_A137T,Missense_A137T,Missense_A137T exm1977244 2 120439179 [T/C] NM_030577,NM_001105198,NM_001105199 TMEM177,TMEM177,TMEM177 EXON Synonymous_Y250Y,Synonymous_Y250Y,Synonymous_Y250Y exm223753 2 120439186 [T/C] NM_030577,NM_001105198,NM_001105199 TMEM177,TMEM177,TMEM177 EXON Missense_L253F,Missense_L253F,Missense_L253F exm223755 2 120439230 [C/G] NM_030577,NM_001105198,NM_001105199 TMEM177,TMEM177,TMEM177 EXON Missense_D267E,Missense_D267E,Missense_D267E exm223759 2 120439282 [T/C] NM_030577,NM_001105198,NM_001105199 TMEM177,TMEM177,TMEM177 EXON Nonsense_R285X,Nonsense_R285X,Nonsense_R285X exm223764 2 120439352 [T/C] NM_030577,NM_001105198,NM_001105199 TMEM177,TMEM177,TMEM177 EXON Missense_P308L,Missense_P308L,Missense_P308L exm2269125 2 120462555 [T/C] exm223769 2 120567482 [T/C] NM_002830 PTPN4 EXON Missense_S18L exm223770 2 120567499 [A/G] NM_002830 PTPN4 EXON Missense_R24G exm1977257 2 120620206 [T/C] NM_002830 PTPN4 EXON Missense_S78F exm223786 2 120640084 [A/C] NM_002830 PTPN4 EXON Missense_L158I exm223791 2 120658328 [T/C] NM_002830 PTPN4 EXON Missense_M237T exm223811 2 120692506 [A/G] NM_002830 PTPN4 EXON Missense_A443T exm223814 2 120692535 [A/G] NM_002830 PTPN4 Silent exm223822 2 120703963 [A/T] NM_002830 PTPN4 EXON Missense_K521I exm223832 2 120712838 [A/G] NM_002830 PTPN4 EXON Missense_R640Q exm223834 2 120712858 [A/G] NM_002830 PTPN4 EXON Missense_A647T exm223838 2 120714456 [T/A] NM_002830 PTPN4 EXON Missense_C673S exm223842 2 120714505 [T/C] NM_002830 PTPN4 EXON Missense_S689L exm223857 2 120734635 [A/T] NM_002830 PTPN4 EXON Missense_T924S exm223862 2 120776731 [A/G] NM_001184937,NM_020909,NM_001184939,NM_001184938 EPB41L5,EPB41L5,EPB41L5,EPB41L5 EXON Missense_R24Q,Missense_R24Q,Missense_R24Q,Missense_R24Q exm223863 2 120776742 [T/C] NM_001184937,NM_020909,NM_001184939,NM_001184938 EPB41L5,EPB41L5,EPB41L5,EPB41L5 EXON Missense_R28C,Missense_R28C,Missense_R28C,Missense_R28C exm223892 2 120834823 [C/G] NM_001184937,NM_020909,NM_001184939,NM_001184938 EPB41L5,EPB41L5,EPB41L5,EPB41L5 EXON Missense_Q215H,Missense_Q215H,Missense_Q215H,Missense_Q215H exm223903 2 120848049 [T/C] NM_001184937,NM_020909,NM_001184939,NM_001184938 EPB41L5,EPB41L5,EPB41L5,EPB41L5 EXON Missense_H334Y,Missense_H334Y,Missense_H334Y,Missense_H334Y exm223913 2 120857846 [A/G] NM_001184937,NM_020909,NM_001184939,NM_001184938 EPB41L5,EPB41L5,EPB41L5,EPB41L5 EXON Missense_S402N,Missense_S402N,Missense_S402N,Missense_S402N exm1977325 2 120858314 [A/C] NM_001184937,NM_020909,NM_001184939,NM_001184938 EPB41L5,EPB41L5,EPB41L5,EPB41L5 EXON Missense_I421L,Missense_I421L,Missense_I421L,Missense_I421L exm223919 2 120858348 [A/G] NM_001184937,NM_020909,NM_001184939,NM_001184938 EPB41L5,EPB41L5,EPB41L5,EPB41L5 EXON Missense_N432S,Missense_N432S,Missense_N432S,Missense_N432S exm223920 2 120858351 [T/C] NM_001184937,NM_020909,NM_001184939,NM_001184938 EPB41L5,EPB41L5,EPB41L5,EPB41L5 EXON Missense_L433P,Missense_L433P,Missense_L433P,Missense_L433P exm223922 2 120858382 [C/G] NM_001184937,NM_020909,NM_001184939,NM_001184938 EPB41L5,EPB41L5,EPB41L5,EPB41L5 EXON Missense_D443E,Missense_D443E,Missense_D443E,Missense_D443E exm223923 2 120861698 [A/C] NM_001184937,NM_020909,NM_001184939,NM_001184938 EPB41L5,EPB41L5,EPB41L5,EPB41L5 EXON Silent,Silent,Missense_P467H,Missense_P467H exm223926 2 120885310 [A/G] NM_001184937,NM_020909 EPB41L5,EPB41L5 EXON Missense_A462T,Missense_A462T exm223928 2 120885347 [T/C] NM_001184937,NM_020909 EPB41L5,EPB41L5 EXON Missense_M474T,Missense_M474T exm223930 2 120885395 [T/C] NM_001184937,NM_020909 EPB41L5,EPB41L5 EXON Missense_P490L,Missense_P490L exm223935 2 120889198 [T/A] NM_001184937,NM_020909 EPB41L5,EPB41L5 EXON Missense_L502F,Missense_L502F exm2236192 2 120903814 [T/A] NM_001184937,NM_020909 EPB41L5,EPB41L5 EXON Missense_D581V,Missense_D581V exm223942 2 120903841 [A/G] NM_001184937,NM_020909 EPB41L5,EPB41L5 EXON Missense_N590S,Missense_N590S exm223945 2 120918513 [A/T] NM_001184937,NM_020909 EPB41L5,EPB41L5 EXON Missense_M617K,Missense_M617K exm223952 2 120922485 [A/T] NM_001184937,NM_020909 EPB41L5,EPB41L5 EXON Missense_Q654L,Missense_Q654L exm223955 2 120925083 [A/G] NM_001184937,NM_020909 EPB41L5,EPB41L5 EXON Synonymous_P668P,Synonymous_P668P exm223960 2 120925492 [A/G] NM_001184937,NM_020909 EPB41L5,EPB41L5 EXON Silent,Missense_M682V exm223961 2 120925517 [A/C] NM_001184937,NM_020909 EPB41L5,EPB41L5 EXON Silent,Missense_H690P exm223967 2 120932430 [T/G] NM_001184937,NM_020909 EPB41L5,EPB41L5 EXON Missense_F673C,Missense_L717V exm2273819 2 120980428 [C/G] NM_024121 TMEM185B EXON Missense_A42G exm2269311 2 120986872 [T/C] exm224016 2 121106819 [A/G] NM_002193 INHBB EXON Missense_R198Q exm224020 2 121106851 [A/G] NM_002193 INHBB EXON Missense_G209S exm-rs7581710 2 121195181 [A/G] exm2261011 2 121264471 [T/C] exm-rs2030746 2 121309488 [T/C] exm2265196 2 121349814 [A/G] exm224058 2 121555015 [T/C] NM_005270 GLI2 EXON Missense_A40V exm-rs2166898 2 121612659 [A/G] NM_005270 GLI2 Silent exm224070 2 121685008 [T/C] NM_005270 GLI2 EXON Missense_H74Y exm-rs11122834 2 121701289 [T/C] NM_005270 GLI2 Silent exm224079 2 121708869 [A/G] NM_005270 GLI2 EXON Missense_R102Q exm224085 2 121708956 [A/G] NM_005270 GLI2 EXON Missense_R131H exm224087 2 121708977 [T/C] NM_005270 GLI2 EXON Missense_T138M exm224099 2 121712961 [A/G] NM_005270 GLI2 EXON Missense_A200T exm224101 2 121712970 [A/G] NM_005270 GLI2 EXON Missense_A203T exm224115 2 121726385 [T/C] NM_005270 GLI2 EXON Missense_R247W exm2254511 2 121728086 [G/C] NM_005270 GLI2 EXON Synonymous_P321P exm224133 2 121729515 [A/C] NM_005270 GLI2 Silent exm224138 2 121729577 [T/C] NM_005270 GLI2 EXON Missense_R374C exm224147 2 121732611 [A/G] NM_005270 GLI2 EXON Missense_V432M exm224166 2 121742165 [A/G] NM_005270 GLI2 EXON Missense_N601S exm224169 2 121742222 [T/C] NM_005270 GLI2 EXON Missense_T620M exm224195 2 121744056 [A/G] NM_005270 GLI2 EXON Missense_R720H exm224197 2 121744139 [A/G] NM_005270 GLI2 EXON Missense_G748R exm224200 2 121744158 [A/G] NM_005270 GLI2 EXON Missense_R754Q exm224242 2 121746839 [T/G] NM_005270 GLI2 EXON Missense_V1117L exm224248 2 121746956 [T/G] NM_005270 GLI2 EXON Missense_A1156S exm1977444 2 121746975 [A/G] NM_005270 GLI2 EXON Missense_K1162R exm224252 2 121747018 [T/G] NM_005270 GLI2 EXON Missense_Q1176H exm1977446 2 121747080 [A/G] NM_005270 GLI2 EXON Missense_G1197D exm224262 2 121747113 [A/G] NM_005270 GLI2 EXON Missense_R1208H exm224265 2 121747133 [A/G] NM_005270 GLI2 EXON Missense_G1215S exm224274 2 121747213 [A/G] NM_005270 GLI2 EXON Missense_M1241I exm224285 2 121747406 [A/G] NM_005270 GLI2 EXON Missense_D1306N exm224289 2 121747433 [T/C] NM_005270 GLI2 EXON Missense_P1315S exm224291 2 121747544 [A/G] NM_005270 GLI2 EXON Missense_M1352V exm224298 2 121747635 [A/G] NM_005270 GLI2 EXON Missense_R1382H exm224299 2 121747688 [T/G] NM_005270 GLI2 EXON Missense_G1400C exm224307 2 121747822 [A/G] NM_005270 GLI2 EXON Missense_M1444I exm224308 2 121747823 [T/C] NM_005270 GLI2 EXON Missense_L1445F exm1977458 2 121747840 [T/G] NM_005270 GLI2 EXON Missense_Q1450H exm224313 2 121747880 [A/G] NM_005270 GLI2 EXON Missense_G1464R exm224332 2 121748048 [A/G] NM_005270 GLI2 EXON Missense_D1520N exm224338 2 121748117 [T/C] NM_005270 GLI2 EXON Missense_R1543C exm224342 2 121748153 [T/C] NM_005270 GLI2 EXON Missense_S1555P exm224353 2 121981952 [G/C] NM_014553 TFCP2L1 EXON Missense_D469H exm224364 2 121991694 [C/G] NM_014553 TFCP2L1 EXON Missense_D391H exm224365 2 121991696 [T/C] NM_014553 TFCP2L1 EXON Missense_R390Q exm224366 2 121991702 [T/C] NM_014553 TFCP2L1 EXON Missense_Q388R exm1977475 2 121992886 [A/C] NM_014553 TFCP2L1 EXON Synonymous_G335G exm224397 2 121999957 [T/C] NM_014553 TFCP2L1 EXON Missense_Y249C exm224412 2 122006660 [T/C] NM_014553 TFCP2L1 EXON Missense_I99V exm224415 2 122007191 [A/G] NM_014553 TFCP2L1 EXON Missense_R83W exm224418 2 122038783 [A/G] NM_014553 TFCP2L1 EXON Missense_R43C exm224420 2 122038789 [T/C] NM_014553 TFCP2L1 EXON Missense_E41K exm2269127 2 122047352 [T/C] exm224458 2 122125187 [T/C] NM_015282,NM_001142273,NM_001142274,NM_001207051 CLASP1,CLASP1,CLASP1,CLASP1 EXON Missense_D1288G,Missense_D1229G,Missense_D1221G,Missense_D1227G exm224469 2 122125292 [A/G] NM_015282,NM_001142273,NM_001142274,NM_001207051 CLASP1,CLASP1,CLASP1,CLASP1 EXON Missense_P1253L,Missense_P1194L,Missense_P1186L,Missense_P1192L exm224473 2 122125361 [T/C] NM_015282,NM_001142273,NM_001142274,NM_001207051 CLASP1,CLASP1,CLASP1,CLASP1 EXON Missense_G1230E,Missense_G1171E,Missense_G1163E,Missense_G1169E exm224475 2 122125373 [T/G] NM_015282,NM_001142273,NM_001142274,NM_001207051 CLASP1,CLASP1,CLASP1,CLASP1 EXON Missense_T1226N,Missense_T1167N,Missense_T1159N,Missense_T1165N exm224494 2 122144722 [T/C] NM_015282,NM_001142273,NM_001142274,NM_001207051 CLASP1,CLASP1,CLASP1,CLASP1 EXON Missense_C1117Y,Missense_C1097Y,Missense_C1089Y,Missense_C1095Y exm224503 2 122159100 [C/G] NM_015282,NM_001142273,NM_001142274,NM_001207051 CLASP1,CLASP1,CLASP1,CLASP1 EXON Missense_A962G,Missense_A942G,Missense_A934G,Missense_A940G exm224504 2 122159199 [T/C] NM_015282,NM_001142273,NM_001142274,NM_001207051 CLASP1,CLASP1,CLASP1,CLASP1 EXON Missense_K929R,Missense_K909R,Missense_K901R,Missense_K907R exm224526 2 122176275 [A/G] NM_015282,NM_001142273,NM_001142274,NM_001207051 CLASP1,CLASP1,CLASP1,CLASP1 EXON Missense_M748T,Silent,Silent,Silent exm224528 2 122176303 [A/G] NM_015282,NM_001142273,NM_001142274,NM_001207051 CLASP1,CLASP1,CLASP1,CLASP1 EXON Missense_R739W,Silent,Silent,Silent exm224531 2 122182729 [T/C] NM_015282,NM_001142273,NM_001142274,NM_001207051 CLASP1,CLASP1,CLASP1,CLASP1 EXON Missense_N733S,Missense_N741S,Missense_N733S,Missense_N740S exm224547 2 122204976 [A/G] NM_015282,NM_001142273,NM_001142274,NM_001207051 CLASP1,CLASP1,CLASP1,CLASP1 EXON Missense_S617P,Missense_S617P,Missense_S617P,Missense_S617P exm224550 2 122205075 [T/C] NM_015282,NM_001142273,NM_001142274,NM_001207051 CLASP1,CLASP1,CLASP1,CLASP1 EXON Missense_V584I,Missense_V584I,Missense_V584I,Missense_V584I exm2254515 2 122206690 [A/G] NM_015282,NM_001142273,NM_001142274,NM_001207051 CLASP1,CLASP1,CLASP1,CLASP1 EXON Synonymous_Y510Y,Synonymous_Y510Y,Synonymous_Y510Y,Synonymous_Y510Y exm224558 2 122208525 [T/C] NM_015282,NM_001142273,NM_001142274,NM_001207051 CLASP1,CLASP1,CLASP1,CLASP1 EXON Missense_H496R,Missense_H496R,Missense_H496R,Missense_H496R exm224575 2 122227402 [A/G] NM_015282,NM_001142273,NM_001142274,NM_001207051 CLASP1,CLASP1,CLASP1,CLASP1 EXON Missense_L283F,Missense_L283F,Missense_L283F,Missense_L283F exm224577 2 122227440 [A/G] NM_015282,NM_001142273,NM_001142274,NM_001207051 CLASP1,CLASP1,CLASP1,CLASP1 EXON Missense_V270A,Missense_V270A,Missense_V270A,Missense_V270A exm224586 2 122260797 [A/C] NM_015282,NM_001142273,NM_001142274,NM_001207051 CLASP1,CLASP1,CLASP1,CLASP1 EXON Missense_F220V,Missense_F220V,Missense_F220V,Missense_F220V exm224587 2 122273266 [T/C] NM_015282,NM_001142273,NM_001142274,NM_001207051 CLASP1,CLASP1,CLASP1,CLASP1 EXON Missense_S207G,Missense_S207G,Missense_S207G,Missense_S207G exm224589 2 122273328 [C/G] NM_015282,NM_001142273,NM_001142274,NM_001207051 CLASP1,CLASP1,CLASP1,CLASP1 EXON Missense_A186G,Missense_A186G,Missense_A186G,Missense_A186G exm224594 2 122286263 [A/G] NM_015282,NM_001142273,NM_001142274,NM_001207051 CLASP1,CLASP1,CLASP1,CLASP1 EXON Missense_A123V,Missense_A123V,Missense_A123V,Missense_A123V exm224606 2 122363461 [A/C] NM_015282,NM_001142273,NM_001142274,NM_001207051 CLASP1,CLASP1,CLASP1,CLASP1 EXON Missense_R4L,Missense_R4L,Missense_R4L,Missense_R4L exm2265348 2 122392439 [A/G] NM_015282,NM_001142273,NM_001142274,NM_001207051 CLASP1,CLASP1,CLASP1,CLASP1 Silent,Silent,Silent,Silent exm224611 2 122485312 [C/G] NR_037857,NM_032390 LOC254128,MKI67IP EXON Silent,Missense_S290R exm224613 2 122485320 [A/G] NR_037857,NM_032390 LOC254128,MKI67IP EXON Silent,Nonsense_R288X exm2273820 2 122485875 [T/C] NR_037857,NM_032390 LOC254128,MKI67IP EXON Silent,Missense_V228M exm224638 2 122488546 [T/C] NM_032390 MKI67IP EXON Missense_E163K exm224644 2 122489750 [T/C] NM_032390 MKI67IP EXON Missense_E92K exm224650 2 122493287 [T/C] NM_032390 MKI67IP EXON Missense_V49M exm224654 2 122494330 [T/C] NM_032390 MKI67IP EXON Missense_I33V exm2254517 2 122608702 [A/C] exm2269128 2 123176322 [T/C] exm2261016 2 123252034 [A/G] exm-rs17367118 2 123641611 [A/G] exm2265197 2 123644053 [A/G] exm2269313 2 123828854 [T/G] exm2263905 2 124251487 [A/C] exm2265350 2 124605930 [A/G] exm2254527 2 124749564 [T/C] exm-rs1367248 2 124998364 [T/G] NM_130773 CNTNAP5 Silent exm2263906 2 125061838 [A/C] NM_130773 CNTNAP5 Silent exm224698 2 125175089 [T/C] NM_130773 CNTNAP5 EXON Missense_F151L exm224702 2 125192088 [A/G] NM_130773 CNTNAP5 EXON Missense_R186Q exm224709 2 125192238 [A/G] NM_130773 CNTNAP5 EXON Missense_G236E exm224712 2 125204348 [T/C] NM_130773 CNTNAP5 EXON Missense_L251P exm224713 2 125204383 [T/C] NM_130773 CNTNAP5 EXON Missense_L263F exm224720 2 125204474 [A/G] NM_130773 CNTNAP5 EXON Missense_R293H exm224724 2 125261879 [T/C] NM_130773 CNTNAP5 EXON Missense_T357I exm1977662 2 125262115 [A/G] NM_130773 CNTNAP5 EXON Missense_V436I exm224735 2 125281910 [T/C] NM_130773 CNTNAP5 EXON Missense_S452L exm224739 2 125281943 [T/C] NM_130773 CNTNAP5 EXON Missense_T463M exm224754 2 125320888 [A/C] NM_130773 CNTNAP5 EXON Missense_T581P exm-rs2901331 2 125327950 [A/G] NM_130773 CNTNAP5 Silent exm224764 2 125405388 [T/C] NM_130773 CNTNAP5 EXON Missense_R643W exm224766 2 125405429 [G/C] NM_130773 CNTNAP5 EXON Missense_D656E exm224771 2 125504806 [A/G] NM_130773 CNTNAP5 EXON Missense_D692G exm224776 2 125504881 [T/C] NM_130773 CNTNAP5 EXON Missense_V717A exm224793 2 125521722 [C/G] NM_130773 CNTNAP5 EXON Missense_S843T exm224800 2 125547484 [A/G] NM_130773 CNTNAP5 EXON Missense_T919A exm224802 2 125547599 [T/C] NM_130773 CNTNAP5 EXON Missense_P957L exm224810 2 125622970 [A/G] NM_130773 CNTNAP5 EXON Missense_H1101R exm224813 2 125627263 [A/C] NM_130773 CNTNAP5 EXON Missense_Q1119H exm224815 2 125627303 [A/G] NM_130773 CNTNAP5 EXON Missense_R1133G exm224820 2 125660482 [A/G] NM_130773 CNTNAP5 EXON Missense_V1153I exm224821 2 125660581 [A/G] NM_130773 CNTNAP5 EXON Missense_A1186T exm224823 2 125660609 [T/C] NM_130773 CNTNAP5 EXON Missense_T1195M exm224832 2 125671717 [T/C] NM_130773 CNTNAP5 EXON Missense_M1258T exm224833 2 125671722 [T/C] NM_130773 CNTNAP5 EXON Missense_R1260W exm2269130 2 125722442 [T/C] exm2254535 2 126455657 [A/G] exm2269315 2 126580416 [T/G] exm-rs10496651 2 126667897 [A/G] exm2265199 2 127061795 [A/G] exm224850 2 127447840 [T/C] NM_002101,NM_016815,NM_001256584 GYPC,GYPC,GYPC EXON Missense_P20L,Silent,Silent exm224860 2 127451481 [A/G] NM_002101,NM_016815,NM_001256584 GYPC,GYPC,GYPC EXON Missense_E50K,Missense_E31K,Missense_E29K exm224863 2 127451505 [A/G] NM_002101,NM_016815,NM_001256584 GYPC,GYPC,GYPC EXON Missense_D58N,Missense_D39N,Missense_D37N exm224866 2 127451514 [A/G] NM_002101,NM_016815,NM_001256584 GYPC,GYPC,GYPC EXON Missense_V61I,Missense_V42I,Missense_V40I exm224872 2 127453543 [T/C] NM_002101,NM_016815,NM_001256584 GYPC,GYPC,GYPC EXON Missense_I71T,Missense_I52T,Missense_I50T exm224874 2 127453545 [A/G] NM_002101,NM_016815,NM_001256584 GYPC,GYPC,GYPC EXON Missense_V72I,Missense_V53I,Missense_V51I exm224875 2 127453566 [A/G] NM_002101,NM_016815,NM_001256584 GYPC,GYPC,GYPC EXON Missense_V79I,Missense_V60I,Missense_V58I exm224876 2 127453576 [A/G] NM_002101,NM_016815,NM_001256584 GYPC,GYPC,GYPC EXON Missense_R82H,Missense_R63H,Missense_R61H exm224877 2 127453579 [A/G] NM_002101,NM_016815,NM_001256584 GYPC,GYPC,GYPC EXON Missense_Y83C,Missense_Y64C,Missense_Y62C exm2275603 2 127453588 [A/G] NM_002101,NM_016815,NM_001256584 GYPC,GYPC,GYPC EXON Missense_R86Q,Missense_R67Q,Missense_R65Q exm2254543 2 127558363 [T/C] exm-rs13418717 2 127662897 [A/T] exm224888 2 127806143 [A/G] NM_139345,NM_139350,NM_139347,NM_004305,NM_139346,NM_139348,NM_139351,NM_139344,NM_139349,NM_139343 BIN1,BIN1,BIN1,BIN1,BIN1,BIN1,BIN1,BIN1,BIN1,BIN1 EXON Missense_R494C,Missense_R427C,Missense_R506C,Missense_R442C,Missense_R485C,Missense_R470C,Missense_R397C,Missense_R538C,Missense_R463C,Missense_R581C exm224894 2 127808076 [A/G] NM_139345,NM_139350,NM_139347,NM_004305,NM_139346,NM_139348,NM_139351,NM_139344,NM_139349,NM_139343 BIN1,BIN1,BIN1,BIN1,BIN1,BIN1,BIN1,BIN1,BIN1,BIN1 EXON Missense_T445M,Missense_T378M,Missense_T457M,Missense_T393M,Missense_T436M,Missense_T421M,Missense_T348M,Missense_T489M,Missense_T414M,Missense_T532M exm224898 2 127808410 [A/G] NM_139345,NM_139350,NM_139347,NM_004305,NM_139346,NM_139348,NM_139351,NM_139344,NM_139349,NM_139343 BIN1,BIN1,BIN1,BIN1,BIN1,BIN1,BIN1,BIN1,BIN1,BIN1 EXON Missense_R427C,Missense_R360C,Missense_R439C,Missense_R375C,Missense_R418C,Missense_R403C,Missense_R330C,Missense_R471C,Missense_R396C,Missense_R514C exm224900 2 127808470 [T/C] NM_139345,NM_139350,NM_139347,NM_004305,NM_139346,NM_139348,NM_139351,NM_139344,NM_139349,NM_139343 BIN1,BIN1,BIN1,BIN1,BIN1,BIN1,BIN1,BIN1,BIN1,BIN1 EXON Missense_V407M,Missense_V340M,Missense_V419M,Missense_V355M,Missense_V398M,Missense_V383M,Missense_V310M,Missense_V451M,Missense_V376M,Missense_V494M exm224902 2 127808749 [A/G] NM_139345,NM_139350,NM_139347,NM_004305,NM_139346,NM_139348,NM_139351,NM_139344,NM_139349,NM_139343 BIN1,BIN1,BIN1,BIN1,BIN1,BIN1,BIN1,BIN1,BIN1,BIN1 EXON Missense_A394V,Missense_A327V,Missense_A406V,Missense_A342V,Missense_A385V,Missense_A370V,Silent,Missense_A438V,Missense_A363V,Missense_A481V exm224905 2 127808806 [A/G] NM_139345,NM_139350,NM_139347,NM_004305,NM_139346,NM_139348,NM_139351,NM_139344,NM_139349,NM_139343 BIN1,BIN1,BIN1,BIN1,BIN1,BIN1,BIN1,BIN1,BIN1,BIN1 EXON Missense_S375L,Missense_S308L,Missense_S387L,Missense_S323L,Missense_S366L,Missense_S351L,Silent,Missense_S419L,Missense_S344L,Missense_S462L exm1977860 2 127809910 [A/G] NM_139345,NM_139350,NM_139347,NM_004305,NM_139346,NM_139348,NM_139351,NM_139344,NM_139349,NM_139343 BIN1,BIN1,BIN1,BIN1,BIN1,BIN1,BIN1,BIN1,BIN1,BIN1 EXON Missense_P344L,Silent,Missense_P356L,Silent,Silent,Silent,Silent,Missense_P388L,Missense_P313L,Missense_P431L exm224909 2 127809920 [T/C] NM_139345,NM_139350,NM_139347,NM_004305,NM_139346,NM_139348,NM_139351,NM_139344,NM_139349,NM_139343 BIN1,BIN1,BIN1,BIN1,BIN1,BIN1,BIN1,BIN1,BIN1,BIN1 EXON Missense_G341S,Silent,Missense_G353S,Silent,Silent,Silent,Silent,Missense_G385S,Missense_G310S,Missense_G428S exm224926 2 127811582 [T/C] NM_139345,NM_139350,NM_139347,NM_004305,NM_139346,NM_139348,NM_139351,NM_139344,NM_139349,NM_139343 BIN1,BIN1,BIN1,BIN1,BIN1,BIN1,BIN1,BIN1,BIN1,BIN1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_A337T,Silent,Missense_A380T exm1977874 2 127818193 [T/C] NM_139345,NM_139350,NM_139347,NM_004305,NM_139346,NM_139348,NM_139351,NM_139344,NM_139349,NM_139343 BIN1,BIN1,BIN1,BIN1,BIN1,BIN1,BIN1,BIN1,BIN1,BIN1 EXON Silent,Silent,Silent,Missense_R263Q,Missense_R263Q,Silent,Silent,Silent,Silent,Silent exm224950 2 127818197 [A/G] NM_139345,NM_139350,NM_139347,NM_004305,NM_139346,NM_139348,NM_139351,NM_139344,NM_139349,NM_139343 BIN1,BIN1,BIN1,BIN1,BIN1,BIN1,BIN1,BIN1,BIN1,BIN1 EXON Silent,Silent,Silent,Missense_S262P,Missense_S262P,Silent,Silent,Silent,Silent,Silent exm224951 2 127818203 [G/C] NM_139345,NM_139350,NM_139347,NM_004305,NM_139346,NM_139348,NM_139351,NM_139344,NM_139349,NM_139343 BIN1,BIN1,BIN1,BIN1,BIN1,BIN1,BIN1,BIN1,BIN1,BIN1 EXON Silent,Silent,Silent,Missense_L260V,Missense_L260V,Silent,Silent,Silent,Silent,Silent exm224959 2 127821206 [T/C] NM_139345,NM_139350,NM_139347,NM_004305,NM_139346,NM_139348,NM_139351,NM_139344,NM_139349,NM_139343 BIN1,BIN1,BIN1,BIN1,BIN1,BIN1,BIN1,BIN1,BIN1,BIN1 EXON Missense_V239I,Missense_V208I,Missense_V208I,Missense_V208I,Missense_V208I,Missense_V208I,Missense_V208I,Missense_V239I,Missense_V208I,Missense_V239I exm224963 2 127821511 [T/G] NM_139345,NM_139350,NM_139347,NM_004305,NM_139346,NM_139348,NM_139351,NM_139344,NM_139349,NM_139343 BIN1,BIN1,BIN1,BIN1,BIN1,BIN1,BIN1,BIN1,BIN1,BIN1 EXON Missense_N232K,Missense_N201K,Missense_N201K,Missense_N201K,Missense_N201K,Missense_N201K,Missense_N201K,Missense_N232K,Missense_N201K,Missense_N232K exm2254544 2 127826533 [A/G] NM_139345,NM_139350,NM_139347,NM_004305,NM_139346,NM_139348,NM_139351,NM_139344,NM_139349,NM_139343 BIN1,BIN1,BIN1,BIN1,BIN1,BIN1,BIN1,BIN1,BIN1,BIN1 EXON Synonymous_T162T,Synonymous_T162T,Synonymous_T162T,Synonymous_T162T,Synonymous_T162T,Synonymous_T162T,Synonymous_T162T,Synonymous_T162T,Synonymous_T162T,Synonymous_T162T exm2263907 2 127860149 [A/C] NM_139345,NM_139350,NM_139347,NM_004305,NM_139346,NM_139348,NM_139351,NM_139344,NM_139349,NM_139343 BIN1,BIN1,BIN1,BIN1,BIN1,BIN1,BIN1,BIN1,BIN1,BIN1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm-rs12989701 2 127887985 [A/C] exm-rs7561528 2 127889637 [A/G] exm-rs744373 2 127894615 [A/G] exm224996 2 127944890 [A/G] NM_001001665 CYP27C1 EXON Missense_T359M exm225030 2 127956952 [T/C] NM_001001665 CYP27C1 EXON Synonymous_T184T exm225035 2 127957025 [A/C] NM_001001665 CYP27C1 EXON Missense_F160C exm225036 2 127957065 [A/G] NM_001001665 CYP27C1 EXON Nonsense_R147X exm225047 2 127961026 [A/G] NM_001001665 CYP27C1 EXON Missense_Y34H exm-rs7567389 2 127982645 [A/T] exm2236219 2 128016886 [A/G] NM_000122 ERCC3 EXON Missense_S735P exm225063 2 128016907 [T/C] NM_000122 ERCC3 EXON Missense_V728M exm225066 2 128016978 [A/G] NM_000122 ERCC3 EXON Missense_S704L exm225069 2 128017002 [A/C] NM_000122 ERCC3 EXON Missense_M696R exm225070 2 128017009 [T/C] NM_000122 ERCC3 EXON Missense_A694T exm2254546 2 128038128 [A/G] NM_000122 ERCC3 EXON Synonymous_D474D exm225085 2 128038147 [A/G] NM_000122 ERCC3 EXON Missense_A468V exm225087 2 128038196 [A/G] NM_000122 ERCC3 EXON Nonsense_R452X exm225088 2 128038202 [T/C] NM_000122 ERCC3 EXON Missense_M450V exm225089 2 128038204 [T/C] NM_000122 ERCC3 EXON Missense_K449R exm225097 2 128044420 [T/C] NM_000122 ERCC3 EXON Missense_I401V exm225105 2 128046259 [A/G] NM_000122 ERCC3 EXON Missense_S335L exm225114 2 128046416 [A/G] NM_000122 ERCC3 EXON Missense_R283C exm225117 2 128047041 [T/C] NM_000122 ERCC3 EXON Missense_T232A exm225132 2 128047393 [T/C] NM_000122 ERCC3 EXON Missense_V177I exm225144 2 128050272 [T/C] NM_000122 ERCC3 EXON Missense_V129I exm225148 2 128050332 [A/G] NM_000122 ERCC3 EXON Nonsense_R109X exm225151 2 128050343 [T/C] NM_000122 ERCC3 EXON Missense_E105G exm225154 2 128051179 [G/C] NM_000122 ERCC3 EXON Missense_E48D exm2273821 2 128051291 [T/C] NM_000122 ERCC3 EXON Missense_K11R exm2275329 2 128065335 [A/G] NM_006609 MAP3K2 EXON Synonymous_P560P exm1977986 2 128066205 [A/G] NM_006609 MAP3K2 EXON Synonymous_P530P exm225188 2 128075765 [C/G] NM_006609 MAP3K2 EXON Missense_D392H exm225190 2 128079632 [T/G] NM_006609 MAP3K2 EXON Synonymous_P345P exm225196 2 128079757 [T/C] NM_006609 MAP3K2 EXON Missense_T304A exm225207 2 128084303 [T/A] NM_006609 MAP3K2 EXON Missense_I186N exm225211 2 128084377 [A/G] NM_006609 MAP3K2 EXON Synonymous_D161D exm225213 2 128087544 [T/C] NM_006609 MAP3K2 EXON Missense_D140G exm2273822 2 128088018 [T/C] NM_006609 MAP3K2 EXON Missense_I110V exm225222 2 128100702 [T/C] NM_006609 MAP3K2 EXON Missense_D2N exm-rs1158867 2 128177377 [T/C] NM_000312 PROC Silent exm225228 2 128177570 [A/G] NM_000312 PROC EXON Missense_G18S exm2236223 2 128178997 [A/T] NM_000312 PROC EXON Missense_K70M exm225254 2 128183690 [T/C] NM_000312 PROC EXON Missense_R189W exm225277 2 128186118 [T/C] NM_000312 PROC EXON Missense_R328C exm225282 2 128186247 [A/G] NM_000312 PROC EXON Missense_N371D exm225289 2 128186332 [A/C] NM_000312 PROC EXON Missense_E399A exm225293 2 128186370 [A/G] NM_000312 PROC EXON Missense_G412S exm225308 2 128246810 [T/C] NM_017969 IWS1 EXON Missense_T721A exm225327 2 128255799 [T/G] NM_017969 IWS1 EXON Missense_E494D exm225332 2 128261099 [T/C] NM_017969 IWS1 EXON Missense_V425I exm225340 2 128262348 [A/C] NM_017969 IWS1 EXON Missense_S377R exm225345 2 128262475 [T/C] NM_017969 IWS1 EXON Missense_R335K exm225373 2 128263222 [T/C] NM_017969 IWS1 EXON Missense_E86G exm225375 2 128281281 [T/C] NM_017969 IWS1 EXON Missense_D41N exm225387 2 128321770 [A/G] NM_001080527 MYO7B EXON Missense_G21S exm225396 2 128324222 [A/T] NM_001080527 MYO7B EXON Missense_Y97F exm225401 2 128324306 [A/G] NM_001080527 MYO7B EXON Missense_R125H exm225412 2 128327387 [T/C] NM_001080527 MYO7B EXON Missense_T165M exm225423 2 128331593 [T/C] NM_001080527 MYO7B EXON Missense_R231C exm225452 2 128338380 [A/G] NM_001080527 MYO7B EXON Missense_V355M exm225464 2 128341722 [A/G] NM_001080527 MYO7B EXON Missense_A457T exm225493 2 128347710 [T/C] NM_001080527 MYO7B EXON Missense_F633S exm225503 2 128350451 [G/C] NM_001080527 MYO7B EXON Missense_P692R exm2263908 2 128350744 [A/C] NM_001080527 MYO7B Silent exm225509 2 128351149 [T/G] NM_001080527 MYO7B EXON Missense_L725R exm225511 2 128351163 [A/G] NM_001080527 MYO7B EXON Missense_V730M exm225540 2 128366416 [T/C] NM_001080527 MYO7B EXON Missense_I926T exm225544 2 128367144 [A/G] NM_001080527 MYO7B EXON Missense_E960K exm225553 2 128367433 [A/G] NM_001080527 MYO7B EXON Missense_V1012I exm225562 2 128370070 [T/C] NM_001080527 MYO7B EXON Missense_I1071T exm225563 2 128370111 [T/C] NM_001080527 MYO7B EXON Missense_R1085W exm225566 2 128370165 [T/C] NM_001080527 MYO7B EXON Missense_R1103W exm225568 2 128377965 [A/C] NM_001080527 MYO7B EXON Missense_T1124K exm225569 2 128378009 [A/G] NM_001080527 MYO7B EXON Missense_G1139S exm225571 2 128379563 [C/G] NM_001080527 MYO7B EXON Missense_L1152V exm225574 2 128379609 [T/C] NM_001080527 MYO7B EXON Missense_A1167V exm225576 2 128379611 [A/G] NM_001080527 MYO7B EXON Missense_E1168K exm225592 2 128381689 [T/C] NM_001080527 MYO7B EXON Missense_R1255C exm225596 2 128381717 [A/G] NM_001080527 MYO7B EXON Missense_R1264Q exm225607 2 128381860 [T/C] NM_001080527 MYO7B EXON Nonsense_R1312X exm225608 2 128381861 [A/G] NM_001080527 MYO7B EXON Missense_R1312Q exm225614 2 128382994 [A/G] NM_001080527 MYO7B EXON Missense_A1341T exm225622 2 128384554 [T/C] NM_001080527 MYO7B EXON Missense_P1381L exm225627 2 128384614 [A/G] NM_001080527 MYO7B EXON Missense_R1401H exm-IND2-128102188 2 128385719 [D/I] NM_001080527 MYO7B exm225640 2 128385948 [T/G] NM_001080527 MYO7B EXON Nonsense_E1462X exm225644 2 128385982 [T/C] NM_001080527 MYO7B EXON Missense_T1473M exm225652 2 128387261 [A/G] NM_001080527 MYO7B EXON Missense_V1530I exm225654 2 128387318 [A/G] NM_001080527 MYO7B EXON Missense_D1549N exm225657 2 128387373 [T/C] NM_001080527 MYO7B EXON Missense_T1567M exm225667 2 128388833 [T/C] NM_001080527 MYO7B EXON Missense_R1638C exm225669 2 128388862 [C/G] NM_001080527 MYO7B EXON Missense_E1647D exm225673 2 128388902 [A/G] NM_001080527 MYO7B EXON Missense_V1661I exm225675 2 128389175 [A/C] NM_001080527 MYO7B EXON Missense_A1673D exm225686 2 128389285 [G/C] NM_001080527 MYO7B EXON Missense_V1710L exm225688 2 128389835 [A/G] NM_001080527 MYO7B EXON Missense_R1729Q exm225694 2 128389954 [T/C] NM_001080527 MYO7B EXON Missense_R1769C exm225700 2 128390891 [A/G] NM_001080527 MYO7B EXON Missense_V1796I exm225719 2 128392781 [A/G] NM_001080527 MYO7B EXON Missense_T1908A exm225721 2 128393336 [T/C] NM_001080527 MYO7B EXON Missense_R1928W exm225727 2 128393390 [A/G] NM_001080527 MYO7B EXON Missense_D1946N exm225728 2 128393393 [T/C] NM_001080527 MYO7B EXON Missense_R1947W exm225738 2 128393862 [A/G] NM_001080527 MYO7B EXON Missense_R2003Q exm225740 2 128393882 [A/G] NM_001080527 MYO7B EXON Missense_A2010T exm2236235 2 128394135 [T/G] NM_001080527 MYO7B EXON Missense_S2021A exm225754 2 128394439 [T/C] NM_001080527 MYO7B EXON Missense_A2067V exm225757 2 128394464 [C/G] NM_001080527 MYO7B EXON Missense_S2075R exm225759 2 128394955 [A/G] NM_001080527 MYO7B EXON Missense_Q2105R exm225770 2 128397000 [T/G] NM_001256542,NM_001161403,NM_001161404,NM_001136037,NM_017980 LIMS2,LIMS2,LIMS2,LIMS2,LIMS2 EXON Missense_N142K,Missense_N294K,Missense_N289K,Missense_N316K,Missense_N318K exm225782 2 128398472 [T/C] NM_001256542,NM_001161403,NM_001161404,NM_001136037,NM_017980 LIMS2,LIMS2,LIMS2,LIMS2,LIMS2 EXON Missense_Q99R,Missense_Q251R,Missense_Q246R,Missense_Q273R,Missense_Q275R exm225791 2 128399679 [T/C] NM_001256542,NM_001161403,NM_001161404,NM_001136037,NM_017980 LIMS2,LIMS2,LIMS2,LIMS2,LIMS2 EXON Missense_R50H,Missense_R202H,Missense_R197H,Missense_R224H,Missense_R226H exm225798 2 128399751 [T/C] NM_001256542,NM_001161403,NM_001161404,NM_001136037,NM_017980 LIMS2,LIMS2,LIMS2,LIMS2,LIMS2 EXON Missense_R26H,Missense_R178H,Missense_R173H,Missense_R200H,Missense_R202H exm225807 2 128400622 [A/G] NM_001256542,NM_001161403,NM_001161404,NM_001136037,NM_017980 LIMS2,LIMS2,LIMS2,LIMS2,LIMS2 EXON Silent,Missense_R129C,Missense_R124C,Missense_R151C,Missense_R153C exm225812 2 128407596 [T/C] NM_001161403,NM_001161404,NM_001136037,NM_017980,NM_001161415,NM_001161416,NM_001161417,NM_005291 LIMS2,LIMS2,LIMS2,LIMS2,GPR17,GPR17,GPR17,GPR17 EXON Silent,Silent,Silent,Silent,Missense_R4W,Silent,Silent,Missense_R4W exm225813 2 128407604 [A/G] NM_001161403,NM_001161404,NM_001136037,NM_017980,NM_001161415,NM_001161416,NM_001161417,NM_005291 LIMS2,LIMS2,LIMS2,LIMS2,GPR17,GPR17,GPR17,GPR17 EXON Silent,Silent,Silent,Silent,Nonsense_W6X,Silent,Silent,Nonsense_W6X exm225814 2 128407614 [T/C] NM_001161403,NM_001161404,NM_001136037,NM_017980,NM_001161415,NM_001161416,NM_001161417,NM_005291 LIMS2,LIMS2,LIMS2,LIMS2,GPR17,GPR17,GPR17,GPR17 EXON Silent,Silent,Silent,Silent,Missense_S10P,Silent,Silent,Missense_S10P exm225817 2 128408354 [A/C] NM_001161403,NM_001161404,NM_001136037,NM_017980,NM_001161415,NM_001161416,NM_001161417,NM_005291 LIMS2,LIMS2,LIMS2,LIMS2,GPR17,GPR17,GPR17,GPR17 EXON Silent,Silent,Silent,Silent,Missense_F43L,Missense_F15L,Missense_F15L,Missense_F43L exm225821 2 128408389 [T/C] NM_001161403,NM_001161404,NM_001136037,NM_017980,NM_001161415,NM_001161416,NM_001161417,NM_005291 LIMS2,LIMS2,LIMS2,LIMS2,GPR17,GPR17,GPR17,GPR17 EXON Silent,Silent,Silent,Silent,Missense_T55M,Missense_T27M,Missense_T27M,Missense_T55M exm225826 2 128408511 [A/G] NM_001161403,NM_001161404,NM_001136037,NM_017980,NM_001161415,NM_001161416,NM_001161417,NM_005291 LIMS2,LIMS2,LIMS2,LIMS2,GPR17,GPR17,GPR17,GPR17 EXON Silent,Silent,Silent,Silent,Missense_V96M,Missense_V68M,Missense_V68M,Missense_V96M exm225829 2 128408532 [A/G] NM_001161403,NM_001161404,NM_001136037,NM_017980,NM_001161415,NM_001161416,NM_001161417,NM_005291 LIMS2,LIMS2,LIMS2,LIMS2,GPR17,GPR17,GPR17,GPR17 EXON Silent,Silent,Silent,Silent,Missense_V103M,Missense_V75M,Missense_V75M,Missense_V103M exm225831 2 128408538 [A/G] NM_001161403,NM_001161404,NM_001136037,NM_017980,NM_001161415,NM_001161416,NM_001161417,NM_005291 LIMS2,LIMS2,LIMS2,LIMS2,GPR17,GPR17,GPR17,GPR17 EXON Silent,Silent,Silent,Silent,Missense_D105N,Missense_D77N,Missense_D77N,Missense_D105N exm225834 2 128408550 [A/G] NM_001161403,NM_001161404,NM_001136037,NM_017980,NM_001161415,NM_001161416,NM_001161417,NM_005291 LIMS2,LIMS2,LIMS2,LIMS2,GPR17,GPR17,GPR17,GPR17 EXON Silent,Silent,Silent,Silent,Missense_V109M,Missense_V81M,Missense_V81M,Missense_V109M exm225838 2 128408622 [T/C] NM_001161403,NM_001161404,NM_001136037,NM_017980,NM_001161415,NM_001161416,NM_001161417,NM_005291 LIMS2,LIMS2,LIMS2,LIMS2,GPR17,GPR17,GPR17,GPR17 EXON Silent,Silent,Silent,Silent,Missense_R133C,Missense_R105C,Missense_R105C,Missense_R133C exm225840 2 128408653 [T/C] NM_001161403,NM_001161404,NM_001136037,NM_017980,NM_001161415,NM_001161416,NM_001161417,NM_005291 LIMS2,LIMS2,LIMS2,LIMS2,GPR17,GPR17,GPR17,GPR17 EXON Silent,Silent,Silent,Silent,Missense_M143T,Missense_M115T,Missense_M115T,Missense_M143T exm2236237 2 128408688 [A/G] NM_001161403,NM_001161404,NM_001136037,NM_017980,NM_001161415,NM_001161416,NM_001161417,NM_005291 LIMS2,LIMS2,LIMS2,LIMS2,GPR17,GPR17,GPR17,GPR17 EXON Silent,Silent,Silent,Silent,Missense_A155T,Missense_A127T,Missense_A127T,Missense_A155T exm225845 2 128408691 [A/G] NM_001161403,NM_001161404,NM_001136037,NM_017980,NM_001161415,NM_001161416,NM_001161417,NM_005291 LIMS2,LIMS2,LIMS2,LIMS2,GPR17,GPR17,GPR17,GPR17 EXON Silent,Silent,Silent,Silent,Missense_D156N,Missense_D128N,Missense_D128N,Missense_D156N exm225853 2 128408865 [T/C] NM_001161403,NM_001161404,NM_001136037,NM_017980,NM_001161415,NM_001161416,NM_001161417,NM_005291 LIMS2,LIMS2,LIMS2,LIMS2,GPR17,GPR17,GPR17,GPR17 EXON Silent,Silent,Silent,Silent,Missense_R214W,Missense_R186W,Missense_R186W,Missense_R214W exm225854 2 128408866 [A/G] NM_001161403,NM_001161404,NM_001136037,NM_017980,NM_001161415,NM_001161416,NM_001161417,NM_005291 LIMS2,LIMS2,LIMS2,LIMS2,GPR17,GPR17,GPR17,GPR17 EXON Silent,Silent,Silent,Silent,Missense_R214Q,Missense_R186Q,Missense_R186Q,Missense_R214Q exm225869 2 128409013 [A/G] NM_001161403,NM_001161404,NM_001136037,NM_017980,NM_001161415,NM_001161416,NM_001161417,NM_005291 LIMS2,LIMS2,LIMS2,LIMS2,GPR17,GPR17,GPR17,GPR17 EXON Silent,Silent,Silent,Silent,Missense_R263H,Missense_R235H,Missense_R235H,Missense_R263H exm225877 2 128409078 [A/G] NM_001161403,NM_001161404,NM_001136037,NM_017980,NM_001161415,NM_001161416,NM_001161417,NM_005291 LIMS2,LIMS2,LIMS2,LIMS2,GPR17,GPR17,GPR17,GPR17 EXON Silent,Silent,Silent,Silent,Missense_V285I,Missense_V257I,Missense_V257I,Missense_V285I exm225880 2 128409097 [A/G] NM_001161403,NM_001161404,NM_001136037,NM_017980,NM_001161415,NM_001161416,NM_001161417,NM_005291 LIMS2,LIMS2,LIMS2,LIMS2,GPR17,GPR17,GPR17,GPR17 EXON Silent,Silent,Silent,Silent,Missense_R291H,Missense_R263H,Missense_R263H,Missense_R291H exm225883 2 128409127 [A/G] NM_001161403,NM_001161404,NM_001136037,NM_017980,NM_001161415,NM_001161416,NM_001161417,NM_005291 LIMS2,LIMS2,LIMS2,LIMS2,GPR17,GPR17,GPR17,GPR17 EXON Silent,Silent,Silent,Silent,Missense_R301H,Missense_R273H,Missense_R273H,Missense_R301H exm225893 2 128409223 [A/G] NM_001161403,NM_001161404,NM_001136037,NM_017980,NM_001161415,NM_001161416,NM_001161417,NM_005291 LIMS2,LIMS2,LIMS2,LIMS2,GPR17,GPR17,GPR17,GPR17 EXON Silent,Silent,Silent,Silent,Missense_R333H,Missense_R305H,Missense_R305H,Missense_R333H exm225894 2 128409228 [A/G] NM_001161403,NM_001161404,NM_001136037,NM_017980,NM_001161415,NM_001161416,NM_001161417,NM_005291 LIMS2,LIMS2,LIMS2,LIMS2,GPR17,GPR17,GPR17,GPR17 EXON Silent,Silent,Silent,Silent,Missense_A335T,Missense_A307T,Missense_A307T,Missense_A335T exm1978343 2 128412409 [T/G] NM_001161403,NM_001161404,NM_001136037,NM_017980 LIMS2,LIMS2,LIMS2,LIMS2 EXON Missense_S78Y,Missense_S73Y,Missense_S100Y,Missense_S102Y exm225927 2 128415003 [T/G] NM_001161403,NM_001161404,NM_001136037,NM_017980 LIMS2,LIMS2,LIMS2,LIMS2 EXON Missense_P49T,Missense_P44T,Missense_P71T,Missense_P73T exm225932 2 128415075 [T/C] NM_001161403,NM_001161404,NM_001136037,NM_017980 LIMS2,LIMS2,LIMS2,LIMS2 EXON Missense_A25T,Missense_A20T,Missense_A47T,Missense_A49T exm225999 2 128467314 [A/G] NM_018383 WDR33 EXON Missense_A1142V exm226004 2 128467399 [T/C] NM_018383 WDR33 EXON Missense_G1114S exm226006 2 128467410 [A/G] NM_018383 WDR33 EXON Missense_P1110L exm226009 2 128471169 [T/C] NM_018383 WDR33 EXON Missense_R1099H exm226011 2 128471218 [T/C] NM_018383 WDR33 EXON Missense_G1083R exm226019 2 128471346 [A/G] NM_018383 WDR33 EXON Missense_P1040L exm226024 2 128471416 [C/G] NM_018383 WDR33 EXON Missense_D1017H exm226051 2 128477084 [C/G] NM_018383 WDR33 EXON Missense_P839A exm226057 2 128477249 [T/C] NM_018383 WDR33 EXON Missense_M784V exm226078 2 128477878 [A/G] NM_018383 WDR33 EXON Missense_P574L exm226109 2 128522189 [T/C] NM_018383,NM_001006623,NM_001006622 WDR33,WDR33,WDR33 EXON Silent,Silent,Missense_Y280C exm226110 2 128522203 [T/A] NM_018383,NM_001006623,NM_001006622 WDR33,WDR33,WDR33 EXON Silent,Silent,Nonsense_Y275X exm226112 2 128522207 [T/C] NM_018383,NM_001006623,NM_001006622 WDR33,WDR33,WDR33 EXON Silent,Silent,Missense_R274Q exm2236243 2 128522247 [A/G] NM_018383,NM_001006623,NM_001006622 WDR33,WDR33,WDR33 EXON Silent,Silent,Missense_S261P exm226124 2 128526536 [T/C] NM_018383,NM_001006623,NM_001006622 WDR33,WDR33,WDR33 EXON Missense_I82V,Missense_I82V,Missense_I82V exm226161 2 128608183 [A/C] NM_004805 POLR2D EXON Missense_S111A exm226173 2 128610553 [T/C] NM_004805 POLR2D EXON Missense_Y67C exm2236244 2 128622721 [A/G] NM_001199140,NM_031445 AMMECR1L,AMMECR1L EXON Missense_C294R,Missense_C294R exm226210 2 128631565 [C/G] NM_001199140,NM_031445 AMMECR1L,AMMECR1L EXON Missense_A82P,Missense_A82P exm226214 2 128631685 [A/G] NM_001199140,NM_031445 AMMECR1L,AMMECR1L EXON Missense_P42S,Missense_P42S exm2269317 2 128699833 [T/C] NM_024545,NM_001145928 SAP130,SAP130 Silent,Silent exm226259 2 128707965 [T/C] NM_024545,NM_001145928 SAP130,SAP130 EXON Missense_T805A,Missense_T840A exm226260 2 128712575 [T/C] NM_024545,NM_001145928 SAP130,SAP130 EXON Missense_M794V,Missense_M829V exm1978457 2 128712679 [C/G] NM_024545,NM_001145928 SAP130,SAP130 EXON Missense_A759G,Missense_A794G exm226280 2 128744480 [T/C] NM_024545,NM_001145928 SAP130,SAP130 EXON Missense_S639G,Missense_S639G exm226318 2 128757970 [A/C] NM_024545,NM_001145928 SAP130,SAP130 EXON Missense_A336S,Missense_A336S exm226326 2 128767945 [G/C] NM_024545,NM_001145928 SAP130,SAP130 EXON Missense_S282C,Missense_S282C exm226351 2 128775453 [A/G] NM_024545,NM_001145928 SAP130,SAP130 EXON Missense_A76V,Missense_A76V exm2254551 2 128775464 [A/G] NM_024545,NM_001145928 SAP130,SAP130 EXON Synonymous_S72S,Synonymous_S72S exm226355 2 128783805 [G/C] NM_024545,NM_001145928 SAP130,SAP130 EXON Missense_S47C,Missense_S47C exm2254552 2 128783825 [A/G] NM_024545,NM_001145928 SAP130,SAP130 EXON Synonymous_T40T,Synonymous_T40T exm226356 2 128783825 [A/G] NM_024545,NM_001145928 SAP130,SAP130 EXON Synonymous_T40T,Synonymous_T40T exm226375 2 128861587 [T/C] NM_020120,NR_027671 UGGT1,UGGT1 EXON Synonymous_D92D,Silent exm226390 2 128872716 [A/G] NM_020120,NR_027671 UGGT1,UGGT1 EXON Missense_V239I,Silent exm1978522 2 128878832 [A/G] NM_020120,NR_027671 UGGT1,UGGT1 EXON Missense_V345I,Silent exm226421 2 128886727 [A/G] NM_020120,NR_027671 UGGT1,UGGT1 EXON Missense_V451I,Silent exm226424 2 128890719 [T/C] NM_020120,NR_027671 UGGT1,UGGT1 EXON Missense_V461A,Silent exm226427 2 128890752 [T/C] NM_020120,NR_027671 UGGT1,UGGT1 EXON Missense_S472L,Silent exm226438 2 128896403 [T/C] NM_020120,NR_027671 UGGT1,UGGT1 EXON Missense_H566Y,Silent exm226442 2 128900721 [T/G] NM_020120,NR_027671 UGGT1,UGGT1 EXON Missense_S591R,Silent exm226452 2 128903531 [T/C] NM_020120,NR_027671 UGGT1,UGGT1 EXON Missense_A669V,Silent exm226458 2 128910452 [A/G] NM_020120,NR_027671 UGGT1,UGGT1 EXON Missense_R704Q,Silent exm226466 2 128913987 [A/G] NM_020120,NR_027671 UGGT1,UGGT1 EXON Missense_Y753C,Silent exm226467 2 128914888 [T/C] NM_020120,NR_027671 UGGT1,UGGT1 EXON Missense_R775W,Silent exm226470 2 128917124 [A/C] NM_020120,NR_027671 UGGT1,UGGT1 EXON Missense_N798H,Silent exm226477 2 128917277 [T/G] NM_020120,NR_027671 UGGT1,UGGT1 EXON Missense_A849S,Silent exm226481 2 128918103 [A/G] NM_020120,NR_027671 UGGT1,UGGT1 EXON Missense_V878M,Silent exm226485 2 128918769 [A/G] NM_020120,NR_027671 UGGT1,UGGT1 EXON Missense_E918K,Silent exm226495 2 128927879 [T/C] NM_020120,NR_027671 UGGT1,UGGT1 EXON Missense_P980L,Silent exm226496 2 128927886 [A/T] NM_020120,NR_027671 UGGT1,UGGT1 EXON Missense_E982D,Silent exm226516 2 128931476 [A/G] NM_020120,NR_027671 UGGT1,UGGT1 EXON Missense_N1139S,Silent exm226525 2 128934411 [T/C] NM_020120,NR_027671 UGGT1,UGGT1 EXON Missense_P1188L,Silent exm226531 2 128935491 [A/G] NM_020120,NR_027671 UGGT1,UGGT1 EXON Missense_K1237R,Silent exm226536 2 128937391 [A/G] NM_020120,NR_027671 UGGT1,UGGT1 EXON Missense_K1283E,Silent exm226544 2 128939711 [A/G] NM_020120,NR_027671 UGGT1,UGGT1 EXON Missense_R1364Q,Silent exm2254553 2 128944424 [T/C] NM_020120,NR_027671 UGGT1,UGGT1 Silent,Silent exm226558 2 128945123 [A/G] NM_020120,NR_027671 UGGT1,UGGT1 EXON Missense_R1526H,Silent exm2261031 2 129020968 [T/C] exm2254554 2 129025949 [A/G] NM_004807 HS6ST1 EXON Synonymous_N341N exm-rs4662834 2 129478842 [A/G] exm2265200 2 129654217 [A/G] exm2269133 2 129946411 [T/C] exm-rs7567687 2 130034326 [T/C] exm2265351 2 130095123 [A/G] exm-rs10928927 2 130468366 [T/C] exm2269319 2 130522894 [T/C] exm2254561 2 130665114 [T/C] exm226657 2 130737936 [T/G] NR_036537,NM_032144 LOC100131320,RAB6C EXON Silent,Missense_I83S exm226728 2 130832623 [T/C] NM_001099771 POTEF EXON Missense_A808T exm2275605 2 130897141 [G/C] NM_207310,NM_001258307 CCDC74B,CCDC74B EXON Missense_R377P,Missense_R311P exm226849 2 130897238 [T/C] NM_207310,NM_001258307 CCDC74B,CCDC74B EXON Missense_E345K,Missense_E279K exm2275606 2 130910911 [A/G] NR_033231,NM_017951,NR_033232,NR_033230,NM_017751,NM_001171083 SMPD4,SMPD4,SMPD4,SMPD4,SMPD4,SMPD4 EXON Silent,Missense_T708M,Silent,Silent,Missense_T679M,Missense_T606M exm2254563 2 130934139 [A/G] NR_033231,NM_017951,NR_033232,NR_033230,NM_017751,NM_001171083 SMPD4,SMPD4,SMPD4,SMPD4,SMPD4,SMPD4 EXON Silent,Synonymous_P48P,Silent,Silent,Synonymous_P48P,Synonymous_P48P exm227179 2 130951375 [A/C] NM_207312 TUBA3E EXON Missense_C347F exm1979028 2 130953941 [T/C] NM_207312 TUBA3E EXON Missense_E3K exm2236268 2 130953944 [T/G] NM_207312 TUBA3E EXON Missense_R2S exm2265201 2 131037447 [A/G] exm227273 2 131096697 [A/G] NM_032357 CCDC115 EXON Missense_A180V exm2236270 2 131096727 [T/C] NM_032357 CCDC115 EXON Missense_E170G exm227285 2 131098505 [G/C] NM_032357 CCDC115 EXON Missense_Q136E exm227299 2 131099606 [G/C] NM_032357 CCDC115 EXON Missense_L31F exm227316 2 131102232 [A/G] NM_033416 IMP4 EXON Missense_R48Q exm1979093 2 131102272 [T/G] NM_033416 IMP4 EXON Missense_D61E exm227324 2 131103164 [A/G] NM_033416 IMP4 EXON Missense_A111T exm227328 2 131103210 [A/G] NM_033416 IMP4 EXON Missense_R126Q exm227332 2 131103254 [A/G] NM_033416 IMP4 EXON Missense_E141K exm227334 2 131103376 [T/C] NM_033416 IMP4 EXON Missense_P155L exm1979099 2 131103405 [T/C] NM_033416 IMP4 EXON Missense_C165R exm227335 2 131103419 [A/G] NM_033416 IMP4 EXON Missense_M169I exm227349 2 131103624 [T/C] NM_033416 IMP4 EXON Missense_P210S exm227355 2 131103803 [A/G] NM_033416 IMP4 EXON Missense_R240H exm227360 2 131103934 [A/G] NM_033416 IMP4 EXON Missense_M257V exm227361 2 131103937 [A/G] NM_033416 IMP4 EXON Missense_I258V exm227378 2 131116456 [T/C] NM_014369,NM_001142370 PTPN18,PTPN18 EXON Missense_S37L,Silent exm227382 2 131116491 [A/G] NM_014369,NM_001142370 PTPN18,PTPN18 EXON Missense_V49M,Silent exm227385 2 131116531 [A/G] NM_014369,NM_001142370 PTPN18,PTPN18 EXON Missense_Y62C,Silent exm227395 2 131116973 [A/G] NM_014369,NM_001142370 PTPN18,PTPN18 EXON Missense_V95M,Silent exm227403 2 131117199 [T/C] NM_014369,NM_001142370 PTPN18,PTPN18 EXON Nonsense_R132X,Silent exm227405 2 131117218 [A/G] NM_014369,NM_001142370 PTPN18,PTPN18 EXON Missense_R138Q,Silent exm227424 2 131127651 [A/G] NM_014369,NM_001142370 PTPN18,PTPN18 EXON Missense_M193V,Missense_M86V exm227426 2 131127678 [A/G] NM_014369,NM_001142370 PTPN18,PTPN18 EXON Missense_S202G,Missense_S95G exm227428 2 131127704 [T/G] NM_014369,NM_001142370 PTPN18,PTPN18 EXON Missense_M210I,Missense_M103I exm1979124 2 131128191 [A/G] NM_014369,NM_001142370 PTPN18,PTPN18 EXON Missense_T251A,Missense_T144A exm227446 2 131128333 [A/G] NM_014369,NM_001142370 PTPN18,PTPN18 EXON Missense_R271Q,Missense_R164Q exm227451 2 131128517 [G/C] NM_014369,NM_001142370 PTPN18,PTPN18 EXON Missense_H302D,Missense_H195D exm227456 2 131128808 [T/C] NM_014369,NM_001142370 PTPN18,PTPN18 EXON Missense_R321W,Missense_R214W exm227457 2 131128829 [C/G] NM_014369,NM_001142370 PTPN18,PTPN18 EXON Missense_A328P,Missense_A221P exm227469 2 131130469 [A/G] NM_014369,NM_001142370 PTPN18,PTPN18 EXON Missense_G422R,Missense_G315R exm227471 2 131130482 [A/G] NM_014369,NM_001142370 PTPN18,PTPN18 EXON Missense_Y426C,Missense_Y319C exm227581 2 131486951 [A/G] NM_207364 GPR148 EXON Missense_R76Q exm227582 2 131486965 [T/C] NM_207364 GPR148 EXON Nonsense_R81X exm227590 2 131487046 [T/C] NM_207364 GPR148 EXON Missense_S108P exm227592 2 131487112 [A/G] NM_207364 GPR148 EXON Missense_A130T exm227595 2 131487166 [G/C] NM_207364 GPR148 EXON Missense_L148V exm227607 2 131487338 [G/C] NM_207364 GPR148 EXON Missense_P205R exm227622 2 131487599 [T/C] NM_207364 GPR148 EXON Missense_I292T exm227626 2 131487652 [A/G] NM_207364 GPR148 EXON Missense_M310V exm227627 2 131487658 [T/C] NM_207364 GPR148 EXON Missense_P312S exm227628 2 131487661 [T/C] NM_207364 GPR148 EXON Missense_R313C exm2273823 2 131487662 [A/G] NM_207364 GPR148 EXON Missense_R313H exm227631 2 131487691 [T/C] NM_207364 GPR148 EXON Missense_R323C exm227632 2 131487692 [A/G] NM_207364 GPR148 EXON Missense_R323H exm227633 2 131487698 [A/G] NM_207364 GPR148 EXON Missense_R325Q exm227636 2 131487719 [A/G] NM_207364 GPR148 EXON Missense_R332Q exm2261037 2 131512850 [T/C] exm227646 2 131519731 [T/C] NM_152698,NM_001105193,NM_001105195,NM_001105194 AMER3,AMER3,AMER3,AMER3 EXON Missense_A29V,Missense_A29V,Missense_A29V,Missense_A29V exm227647 2 131519742 [A/G] NM_152698,NM_001105193,NM_001105195,NM_001105194 AMER3,AMER3,AMER3,AMER3 EXON Missense_G33R,Missense_G33R,Missense_G33R,Missense_G33R exm2273824 2 131520034 [A/G] NM_152698,NM_001105193,NM_001105195,NM_001105194 AMER3,AMER3,AMER3,AMER3 EXON Missense_R130H,Missense_R130H,Missense_R130H,Missense_R130H exm227666 2 131520045 [C/G] NM_152698,NM_001105193,NM_001105195,NM_001105194 AMER3,AMER3,AMER3,AMER3 EXON Missense_P134A,Missense_P134A,Missense_P134A,Missense_P134A exm227669 2 131520106 [A/G] NM_152698,NM_001105193,NM_001105195,NM_001105194 AMER3,AMER3,AMER3,AMER3 EXON Missense_K154R,Missense_K154R,Missense_K154R,Missense_K154R exm227674 2 131520178 [C/G] NM_152698,NM_001105193,NM_001105195,NM_001105194 AMER3,AMER3,AMER3,AMER3 EXON Missense_A178G,Missense_A178G,Missense_A178G,Missense_A178G exm227694 2 131520598 [A/G] NM_152698,NM_001105193,NM_001105195,NM_001105194 AMER3,AMER3,AMER3,AMER3 EXON Missense_R318H,Missense_R318H,Missense_R318H,Missense_R318H exm227698 2 131520663 [T/C] NM_152698,NM_001105193,NM_001105195,NM_001105194 AMER3,AMER3,AMER3,AMER3 EXON Missense_S340P,Missense_S340P,Missense_S340P,Missense_S340P exm227700 2 131520678 [T/G] NM_152698,NM_001105193,NM_001105195,NM_001105194 AMER3,AMER3,AMER3,AMER3 EXON Missense_A345S,Missense_A345S,Missense_A345S,Missense_A345S exm227708 2 131520828 [T/C] NM_152698,NM_001105193,NM_001105195,NM_001105194 AMER3,AMER3,AMER3,AMER3 EXON Missense_L395F,Missense_L395F,Missense_L395F,Missense_L395F exm227713 2 131520942 [T/C] NM_152698,NM_001105193,NM_001105195,NM_001105194 AMER3,AMER3,AMER3,AMER3 EXON Missense_P433S,Missense_P433S,Missense_P433S,Missense_P433S exm227714 2 131520945 [G/C] NM_152698,NM_001105193,NM_001105195,NM_001105194 AMER3,AMER3,AMER3,AMER3 EXON Missense_L434V,Missense_L434V,Missense_L434V,Missense_L434V exm227751 2 131521620 [A/G] NM_152698,NM_001105193,NM_001105195,NM_001105194 AMER3,AMER3,AMER3,AMER3 EXON Missense_R659G,Missense_R659G,Missense_R659G,Missense_R659G exm227755 2 131521710 [A/G] NM_152698,NM_001105193,NM_001105195,NM_001105194 AMER3,AMER3,AMER3,AMER3 EXON Missense_E689K,Missense_E689K,Missense_E689K,Missense_E689K exm227758 2 131521725 [A/G] NM_152698,NM_001105193,NM_001105195,NM_001105194 AMER3,AMER3,AMER3,AMER3 EXON Missense_A694T,Missense_A694T,Missense_A694T,Missense_A694T exm227771 2 131522007 [A/G] NM_152698,NM_001105193,NM_001105195,NM_001105194 AMER3,AMER3,AMER3,AMER3 EXON Missense_G788S,Missense_G788S,Missense_G788S,Missense_G788S exm227774 2 131522065 [A/G] NM_152698,NM_001105193,NM_001105195,NM_001105194 AMER3,AMER3,AMER3,AMER3 EXON Missense_G807D,Missense_G807D,Missense_G807D,Missense_G807D exm227775 2 131522142 [T/C] NM_152698,NM_001105193,NM_001105195,NM_001105194 AMER3,AMER3,AMER3,AMER3 EXON Missense_R833C,Missense_R833C,Missense_R833C,Missense_R833C exm2269135 2 131566020 [T/C] exm227817 2 131688595 [T/C] NM_032995,NM_015320 ARHGEF4,ARHGEF4 EXON Missense_M22T,Missense_M22T exm227818 2 131688627 [G/C] NM_032995,NM_015320 ARHGEF4,ARHGEF4 EXON Missense_D33H,Missense_D33H exm227825 2 131688720 [A/G] NM_032995,NM_015320 ARHGEF4,ARHGEF4 EXON Missense_V64I,Missense_V64I exm227830 2 131688783 [A/G] NM_032995,NM_015320 ARHGEF4,ARHGEF4 EXON Missense_V85I,Missense_V85I exm227831 2 131688786 [A/G] NM_032995,NM_015320 ARHGEF4,ARHGEF4 EXON Missense_E86K,Missense_E86K exm227832 2 131688801 [A/G] NM_032995,NM_015320 ARHGEF4,ARHGEF4 EXON Missense_I91V,Missense_I91V exm227833 2 131688828 [A/G] NM_032995,NM_015320 ARHGEF4,ARHGEF4 EXON Missense_K100E,Missense_K100E exm227839 2 131704186 [C/G] NM_032995,NM_015320 ARHGEF4,ARHGEF4 EXON Missense_W135C,Missense_W135C exm227840 2 131704208 [A/G] NM_032995,NM_015320 ARHGEF4,ARHGEF4 EXON Missense_A143T,Missense_A143T exm2236283 2 131797647 [A/G] NM_032995,NM_015320 ARHGEF4,ARHGEF4 EXON Missense_G269E,Missense_G269E exm227863 2 131797675 [T/G] NM_032995,NM_015320 ARHGEF4,ARHGEF4 EXON Missense_Q278H,Missense_Q278H exm227865 2 131797689 [A/G] NM_032995,NM_015320 ARHGEF4,ARHGEF4 EXON Missense_Q283R,Missense_Q283R exm1979271 2 131797874 [A/G] NM_032995,NM_015320 ARHGEF4,ARHGEF4 EXON Missense_S322N,Missense_S322N exm227916 2 131803025 [T/C] NM_032995,NM_015320 ARHGEF4,ARHGEF4 EXON Missense_R643W,Silent exm227917 2 131803034 [C/G] NM_032995,NM_015320 ARHGEF4,ARHGEF4 EXON Missense_A646P,Silent exm227919 2 131803055 [A/G] NM_032995,NM_015320 ARHGEF4,ARHGEF4 EXON Missense_G653S,Silent exm227927 2 131803637 [T/C] NM_032995,NM_015320 ARHGEF4,ARHGEF4 EXON Silent,Missense_R650C exm227931 2 131803668 [A/G] NM_032995,NM_015320 ARHGEF4,ARHGEF4 EXON Silent,Missense_R660Q exm227936 2 131803748 [T/C] NM_032995,NM_015320 ARHGEF4,ARHGEF4 EXON Silent,Missense_P687S exm227951 2 131813136 [A/G] NM_001009993 FAM168B EXON Missense_P96L exm227982 2 131883457 [T/C] NM_001267062,NM_001267066,NM_001267067,NM_001100623,NM_001267064,NR_049792,NM_001267065,NR_049790,NM_001267063,NM_017958,NR_049789,NR_049791,NM_001267068 PLEKHB2,PLEKHB2,PLEKHB2,PLEKHB2,PLEKHB2,PLEKHB2,PLEKHB2,PLEKHB2,PLEKHB2,PLEKHB2,PLEKHB2,PLEKHB2,PLEKHB2 EXON Missense_R57C,Missense_R57C,Missense_R57C,Missense_R57C,Missense_R57C,Silent,Missense_R57C,Silent,Missense_R57C,Missense_R57C,Silent,Silent,Missense_R57C exm227993 2 131890491 [T/C] NM_001267062,NM_001267066,NM_001267067,NM_001100623,NM_001267064,NR_049792,NM_001267065,NR_049790,NM_001267063,NM_017958,NR_049789,NR_049791,NM_001267068 PLEKHB2,PLEKHB2,PLEKHB2,PLEKHB2,PLEKHB2,PLEKHB2,PLEKHB2,PLEKHB2,PLEKHB2,PLEKHB2,PLEKHB2,PLEKHB2,PLEKHB2 EXON Missense_A117V,Missense_A117V,Silent,Missense_A117V,Missense_A117V,Silent,Missense_A117V,Silent,Missense_A117V,Missense_A117V,Silent,Silent,Silent exm227995 2 131890545 [A/G] NM_001267062,NM_001267066,NM_001267067,NM_001100623,NM_001267064,NR_049792,NM_001267065,NR_049790,NM_001267063,NM_017958,NR_049789,NR_049791,NM_001267068 PLEKHB2,PLEKHB2,PLEKHB2,PLEKHB2,PLEKHB2,PLEKHB2,PLEKHB2,PLEKHB2,PLEKHB2,PLEKHB2,PLEKHB2,PLEKHB2,PLEKHB2 EXON Missense_Y135C,Missense_Y135C,Silent,Missense_Y135C,Missense_Y135C,Silent,Missense_Y135C,Silent,Missense_Y135C,Missense_Y135C,Silent,Silent,Silent exm227999 2 131897763 [C/G] NM_001267062,NM_001267066,NM_001267067,NM_001100623,NM_001267064,NR_049792,NM_001267065,NR_049790,NM_001267063,NM_017958,NR_049789,NR_049791,NM_001267068 PLEKHB2,PLEKHB2,PLEKHB2,PLEKHB2,PLEKHB2,PLEKHB2,PLEKHB2,PLEKHB2,PLEKHB2,PLEKHB2,PLEKHB2,PLEKHB2,PLEKHB2 EXON Nonsense_Y149X,Silent,Missense_T106R,Nonsense_Y149X,Nonsense_Y156X,Silent,Nonsense_Y157X,Silent,Nonsense_Y148X,Nonsense_Y148X,Silent,Silent,Missense_T105R exm228005 2 131897800 [A/G] NM_001267062,NM_001267066,NM_001267067,NM_001100623,NM_001267064,NR_049792,NM_001267065,NR_049790,NM_001267063,NM_017958,NR_049789,NR_049791,NM_001267068 PLEKHB2,PLEKHB2,PLEKHB2,PLEKHB2,PLEKHB2,PLEKHB2,PLEKHB2,PLEKHB2,PLEKHB2,PLEKHB2,PLEKHB2,PLEKHB2,PLEKHB2 EXON Missense_A162T,Silent,Synonymous_T118T,Missense_A162T,Missense_A169T,Silent,Missense_A170T,Silent,Missense_A161T,Missense_A161T,Silent,Silent,Synonymous_T117T exm2269321 2 131933628 [T/G] exm228208 2 132120997 [A/G] NM_001077637 WTH3DI EXON Synonymous_N99N exm-rs1059524 2 132181483 [T/G] exm2277201 2 132235740 [T/G] NR_046946,NM_080386 RNU6-81,TUBA3D EXON Silent,Nonsense_E3X exm228292 2 132238306 [T/G] NR_046946,NM_080386 RNU6-81,TUBA3D EXON Silent,Missense_C347F exm228306 2 132241650 [A/G] NR_046946,NM_001085365 RNU6-81,MZT2A EXON Silent,Missense_T154M exm228358 2 132285703 [A/G] NR_046946,NM_001258305,NM_001258306,NM_001258304,NM_138770 RNU6-81,CCDC74A,CCDC74A,CCDC74A,CCDC74A EXON Silent,Missense_E54K,Missense_E54K,Missense_E54K,Missense_E54K exm228378 2 132287238 [T/G] NR_046946,NM_001258305,NM_001258306,NM_001258304,NM_138770 RNU6-81,CCDC74A,CCDC74A,CCDC74A,CCDC74A EXON Silent,Missense_I90R,Missense_I90R,Missense_I132R,Missense_I90R exm228455 2 132290934 [T/C] NR_046946,NM_001258305,NM_001258306,NM_001258304,NM_138770 RNU6-81,CCDC74A,CCDC74A,CCDC74A,CCDC74A EXON Silent,Silent,Missense_A301V,Missense_A364V,Missense_A367V exm228458 2 132290957 [C/G] NR_046946,NM_001258305,NM_001258306,NM_001258304,NM_138770 RNU6-81,CCDC74A,CCDC74A,CCDC74A,CCDC74A EXON Silent,Silent,Missense_R309G,Missense_R372G,Missense_R375G exm2263909 2 132298468 [A/C] NR_046946 RNU6-81 Silent exm2269322 2 132915518 [T/C] NR_027019,NR_027020 ANKRD30BL,ANKRD30BL Silent,Silent exm-rs16831128 2 133144392 [A/G] exm228663 2 133174742 [T/A] NM_001508 GPR39 EXON Missense_M43L exm228665 2 133174764 [T/C] NM_001508 GPR39 EXON Missense_A50V exm228689 2 133175255 [T/C] NM_001508 GPR39 EXON Missense_S214P exm1979723 2 133175304 [T/C] NM_001508 GPR39 EXON Missense_V230A exm228700 2 133175399 [C/G] NM_001508 GPR39 EXON Missense_R262G exm-rs13420028 2 133188106 [T/G] NM_001508 GPR39 Silent exm2263951 2 133330895 [A/C] NM_001508 GPR39 Silent exm2265203 2 133367209 [A/G] NM_001508 GPR39 Silent exm228711 2 133402718 [A/C] NM_001508,NM_144586,NM_001077427 GPR39,LYPD1,LYPD1 EXON Missense_I301L,Silent,Silent exm228717 2 133402839 [T/C] NM_001508,NM_144586,NM_001077427 GPR39,LYPD1,LYPD1 EXON Missense_P341L,Silent,Silent exm228723 2 133402949 [A/G] NM_001508,NM_144586,NM_001077427 GPR39,LYPD1,LYPD1 EXON Missense_A378T,Silent,Silent exm228724 2 133402953 [A/G] NM_001508,NM_144586,NM_001077427 GPR39,LYPD1,LYPD1 EXON Missense_H379R,Silent,Silent exm228730 2 133402977 [T/G] NM_001508,NM_144586,NM_001077427 GPR39,LYPD1,LYPD1 EXON Missense_F387C,Silent,Silent exm228731 2 133402985 [T/C] NM_001508,NM_144586,NM_001077427 GPR39,LYPD1,LYPD1 EXON Missense_R390C,Silent,Silent exm228735 2 133403085 [C/G] NM_001508,NM_144586,NM_001077427 GPR39,LYPD1,LYPD1 EXON Missense_S423C,Silent,Silent exm228739 2 133403126 [T/G] NM_001508,NM_144586,NM_001077427 GPR39,LYPD1,LYPD1 EXON Missense_A437S,Silent,Silent exm228740 2 133403156 [A/G] NM_001508,NM_144586,NM_001077427 GPR39,LYPD1,LYPD1 EXON Missense_G447S,Silent,Silent exm228742 2 133403647 [T/C] NM_001508,NM_144586,NM_001077427 GPR39,LYPD1,LYPD1 EXON Silent,Missense_K133E,Missense_K81E exm228745 2 133403668 [A/G] NM_001508,NM_144586,NM_001077427 GPR39,LYPD1,LYPD1 EXON Silent,Missense_R126C,Missense_R74C exm228767 2 133483265 [T/C] NM_207481,NM_207363 NCKAP5,NCKAP5 EXON Missense_Y564C,Missense_Y1883C exm228768 2 133486397 [T/C] NM_207481,NM_207363 NCKAP5,NCKAP5 EXON Missense_G539R,Missense_G1858R exm228769 2 133486408 [A/T] NM_207481,NM_207363 NCKAP5,NCKAP5 EXON Missense_V535D,Missense_V1854D exm228775 2 133489315 [A/G] NM_207481,NM_207363 NCKAP5,NCKAP5 EXON Missense_S494F,Missense_S1813F exm228782 2 133489544 [A/G] NM_207481,NM_207363 NCKAP5,NCKAP5 EXON Missense_R418C,Missense_R1737C exm1979798 2 133531428 [T/C] NM_207481,NM_207363 NCKAP5,NCKAP5 EXON Missense_D378N,Missense_D1697N exm228792 2 133531464 [T/G] NM_207481,NM_207363 NCKAP5,NCKAP5 EXON Missense_K366Q,Missense_K1685Q exm228795 2 133538651 [T/C] NM_207481,NM_207363 NCKAP5,NCKAP5 EXON Silent,Missense_D1675N exm228796 2 133538668 [T/A] NM_207481,NM_207363 NCKAP5,NCKAP5 EXON Silent,Missense_N1669I exm228804 2 133539546 [A/G] NM_207481,NM_207363 NCKAP5,NCKAP5 EXON Silent,Missense_T1613M exm228806 2 133539582 [T/C] NM_207481,NM_207363 NCKAP5,NCKAP5 EXON Silent,Missense_E1601G exm228808 2 133539637 [G/C] NM_207481,NM_207363 NCKAP5,NCKAP5 EXON Silent,Missense_Q1583E exm228809 2 133539660 [A/G] NM_207481,NM_207363 NCKAP5,NCKAP5 EXON Silent,Missense_A1575V exm228810 2 133539679 [T/A] NM_207481,NM_207363 NCKAP5,NCKAP5 EXON Silent,Missense_I1569F exm228811 2 133539726 [T/A] NM_207481,NM_207363 NCKAP5,NCKAP5 EXON Silent,Missense_K1553I exm228815 2 133539953 [T/C] NM_207481,NM_207363 NCKAP5,NCKAP5 EXON Silent,Missense_M1477I exm228820 2 133540061 [A/C] NM_207481,NM_207363 NCKAP5,NCKAP5 EXON Silent,Missense_S1441R exm228823 2 133540115 [T/G] NM_207481,NM_207363 NCKAP5,NCKAP5 EXON Silent,Missense_E1423D exm228828 2 133540176 [A/G] NM_207481,NM_207363 NCKAP5,NCKAP5 EXON Silent,Missense_V1403A exm1979806 2 133540468 [T/C] NM_207481,NM_207363 NCKAP5,NCKAP5 EXON Silent,Missense_A1306T exm228859 2 133540635 [A/G] NM_207481,NM_207363 NCKAP5,NCKAP5 EXON Silent,Missense_S1250F exm228860 2 133540714 [A/G] NM_207481,NM_207363 NCKAP5,NCKAP5 EXON Silent,Missense_P1224S exm228865 2 133540776 [A/G] NM_207481,NM_207363 NCKAP5,NCKAP5 EXON Silent,Missense_A1203V exm228870 2 133540888 [T/C] NM_207481,NM_207363 NCKAP5,NCKAP5 EXON Silent,Missense_V1166M exm228874 2 133540950 [T/C] NM_207481,NM_207363 NCKAP5,NCKAP5 EXON Silent,Missense_R1145H exm228878 2 133541107 [A/T] NM_207481,NM_207363 NCKAP5,NCKAP5 EXON Silent,Missense_N1093Y exm228882 2 133541206 [C/G] NM_207481,NM_207363 NCKAP5,NCKAP5 EXON Silent,Missense_D1060H exm228883 2 133541232 [T/C] NM_207481,NM_207363 NCKAP5,NCKAP5 EXON Silent,Missense_R1051H exm228885 2 133541262 [A/G] NM_207481,NM_207363 NCKAP5,NCKAP5 EXON Silent,Missense_P1041L exm228886 2 133541293 [T/C] NM_207481,NM_207363 NCKAP5,NCKAP5 EXON Silent,Missense_V1031I exm228890 2 133541422 [A/T] NM_207481,NM_207363 NCKAP5,NCKAP5 EXON Silent,Missense_T988S exm228893 2 133541446 [A/G] NM_207481,NM_207363 NCKAP5,NCKAP5 EXON Silent,Missense_P980S exm228894 2 133541454 [A/G] NM_207481,NM_207363 NCKAP5,NCKAP5 EXON Silent,Missense_I977T exm228898 2 133541575 [T/C] NM_207481,NM_207363 NCKAP5,NCKAP5 EXON Silent,Missense_V937I exm228902 2 133541652 [A/G] NM_207481,NM_207363 NCKAP5,NCKAP5 EXON Silent,Missense_T911M exm228914 2 133541926 [T/C] NM_207481,NM_207363 NCKAP5,NCKAP5 EXON Silent,Missense_E820K exm228918 2 133542004 [T/C] NM_207481,NM_207363 NCKAP5,NCKAP5 EXON Silent,Missense_I794V exm228919 2 133542010 [T/C] NM_207481,NM_207363 NCKAP5,NCKAP5 EXON Silent,Missense_M792V exm228923 2 133542105 [G/C] NM_207481,NM_207363 NCKAP5,NCKAP5 EXON Silent,Missense_S760T exm228925 2 133542166 [T/C] NM_207481,NM_207363 NCKAP5,NCKAP5 EXON Silent,Missense_E740K exm228926 2 133542171 [A/T] NM_207481,NM_207363 NCKAP5,NCKAP5 EXON Silent,Missense_D738V exm228931 2 133542303 [T/C] NM_207481,NM_207363 NCKAP5,NCKAP5 EXON Silent,Missense_N694S exm228940 2 133542508 [A/G] NM_207481,NM_207363 NCKAP5,NCKAP5 EXON Silent,Missense_S626P exm228943 2 133542559 [T/C] NM_207481,NM_207363 NCKAP5,NCKAP5 EXON Silent,Missense_D609N exm228945 2 133542574 [T/C] NM_207481,NM_207363 NCKAP5,NCKAP5 EXON Silent,Missense_V604M exm2275608 2 133542575 [A/G] NM_207481,NM_207363 NCKAP5,NCKAP5 EXON Silent,Synonymous_D603D exm2275609 2 133542624 [A/G] NM_207481,NM_207363 NCKAP5,NCKAP5 EXON Silent,Missense_T587M exm228954 2 133542717 [A/G] NM_207481,NM_207363 NCKAP5,NCKAP5 EXON Silent,Missense_T556M exm228960 2 133542849 [A/G] NM_207481,NM_207363 NCKAP5,NCKAP5 EXON Silent,Missense_F512S exm228965 2 133542991 [A/G] NM_207481,NM_207363 NCKAP5,NCKAP5 EXON Silent,Missense_H465Y exm228976 2 133543200 [T/C] NM_207481,NM_207363 NCKAP5,NCKAP5 EXON Silent,Missense_R395H exm1979828 2 133547627 [T/G] NM_207481,NM_207363 NCKAP5,NCKAP5 EXON Missense_T354K,Missense_T354K exm228982 2 133547732 [A/C] NM_207481,NM_207363 NCKAP5,NCKAP5 EXON Missense_G319V,Missense_G319V exm228990 2 133618088 [T/G] NM_207481,NM_207363 NCKAP5,NCKAP5 EXON Missense_P262T,Missense_P262T exm228992 2 133618123 [T/C] NM_207481,NM_207363 NCKAP5,NCKAP5 EXON Missense_R250Q,Missense_R250Q exm-rs4953863 2 133672853 [T/C] NM_207481,NM_207363 NCKAP5,NCKAP5 Silent,Silent exm229004 2 133721354 [T/C] NM_207481,NM_207363 NCKAP5,NCKAP5 EXON Missense_S173N,Missense_S173N exm229006 2 133721369 [A/G] NM_207481,NM_207363 NCKAP5,NCKAP5 EXON Missense_S168L,Missense_S168L exm-rs1437898 2 133746630 [A/C] NM_207481,NM_207363 NCKAP5,NCKAP5 Silent,Silent exm229008 2 133751760 [T/C] NM_207481,NM_207363 NCKAP5,NCKAP5 EXON Missense_K132E,Missense_K132E exm229010 2 133887561 [A/C] NM_207481,NM_207363 NCKAP5,NCKAP5 EXON Missense_Q110H,Missense_Q110H exm1979905 2 133887574 [T/C] NM_207481,NM_207363 NCKAP5,NCKAP5 EXON Missense_R106H,Missense_R106H exm229011 2 133887575 [A/G] NM_207481,NM_207363 NCKAP5,NCKAP5 EXON Missense_R106C,Missense_R106C exm229016 2 133887676 [T/C] NM_207481,NM_207363 NCKAP5,NCKAP5 EXON Missense_K72R,Missense_K72R exm2269136 2 133964894 [T/C] NM_207481,NM_207363 NCKAP5,NCKAP5 Silent,Silent exm229018 2 133971322 [T/C] NM_207481,NM_207363 NCKAP5,NCKAP5 EXON Missense_R58Q,Missense_R58Q exm-rs10496702 2 134005569 [A/G] NM_207481,NM_207363 NCKAP5,NCKAP5 Silent,Silent exm-rs7577925 2 134040519 [A/G] NM_207481,NM_207363 NCKAP5,NCKAP5 Silent,Silent exm2269323 2 134393846 [T/C] exm-rs7567288 2 134434824 [T/C] exm2265204 2 134568892 [A/G] exm229022 2 135012114 [A/G] NM_002410 MGAT5 EXON Missense_R47H exm229043 2 135095831 [T/C] NM_002410 MGAT5 EXON Missense_A216V exm229044 2 135095833 [A/G] NM_002410 MGAT5 EXON Missense_E217K exm229061 2 135102556 [A/G] NM_002410 MGAT5 EXON Missense_I345V exm229062 2 135102625 [G/C] NM_002410 MGAT5 EXON Missense_V368L exm229068 2 135119909 [T/C] NM_002410 MGAT5 EXON Missense_I437T exm2269324 2 135122375 [T/C] NM_002410 MGAT5 Silent exm2254591 2 135139506 [A/G] NM_002410 MGAT5 Silent exm1980434 2 135170556 [A/C] NM_002410 MGAT5 EXON Missense_D549E exm229087 2 135180420 [A/G] NM_002410 MGAT5 EXON Missense_H575R exm229100 2 135206338 [A/G] NM_002410 MGAT5 EXON Missense_A716T exm229112 2 135215640 [T/C] NM_030923 TMEM163 EXON Missense_V258I exm229123 2 135223739 [T/C] NM_030923 TMEM163 EXON Missense_V205M exm229129 2 135308153 [T/C] NM_030923 TMEM163 EXON Missense_H149R exm1980576 2 135470794 [A/G] NM_030923 TMEM163 EXON Synonymous_L100L exm229146 2 135596266 [T/C] NM_138326 ACMSD EXON Missense_I5T exm1980581 2 135602847 [T/G] NM_138326 ACMSD EXON Missense_K34N exm1980583 2 135616876 [T/C] NM_138326 ACMSD EXON Nonsense_R50X exm229151 2 135616877 [A/G] NM_138326 ACMSD EXON Missense_R50Q exm1980584 2 135616891 [G/C] NM_138326 ACMSD EXON Missense_D55H exm2236306 2 135619588 [T/G] NM_138326 ACMSD EXON Missense_W83C exm229164 2 135621115 [A/G] NM_138326 ACMSD EXON Missense_K134E exm229168 2 135621200 [T/C] NM_138326 ACMSD EXON Missense_A162V exm229172 2 135625210 [A/G] NM_138326,NR_036549 ACMSD,LOC100129961 EXON Missense_R183Q,Silent exm229175 2 135628556 [T/C] NM_138326,NR_036549 ACMSD,LOC100129961 EXON Missense_I201T,Silent exm2269137 2 135650766 [T/C] NM_138326,NR_036549 ACMSD,LOC100129961 Silent,Silent exm1980615 2 135711299 [T/C] NM_058241,NM_001241,NR_037649 CCNT2,CCNT2,CCNT2 EXON Missense_T425I,Missense_T425I,Silent exm229283 2 135722480 [G/C] NM_001018046,NM_025052 MAP3K19,MAP3K19 EXON Missense_Q491H,Missense_Q1309H exm229289 2 135738497 [T/C] NM_001018046,NM_025052 MAP3K19,MAP3K19 EXON Missense_R454G,Missense_R1272G exm229293 2 135738715 [A/G] NM_001018046,NM_025052 MAP3K19,MAP3K19 EXON Missense_I381T,Missense_I1199T exm229295 2 135738757 [T/C] NM_001018046,NM_025052 MAP3K19,MAP3K19 EXON Missense_R367H,Missense_R1185H exm229298 2 135738850 [T/C] NM_001018046,NM_025052 MAP3K19,MAP3K19 EXON Missense_R336H,Missense_R1154H exm229300 2 135738995 [A/G] NM_001018046,NM_025052 MAP3K19,MAP3K19 EXON Missense_R288W,Missense_R1106W exm229318 2 135741367 [T/C] NM_001018046,NM_025052 MAP3K19,MAP3K19 EXON Missense_D216G,Missense_D1034G exm1980646 2 135743411 [A/G] NM_001018046,NM_025052 MAP3K19,MAP3K19 EXON Silent,Missense_P1011S exm229326 2 135743593 [T/C] NM_001018046,NM_025052 MAP3K19,MAP3K19 EXON Silent,Missense_N950S exm229327 2 135743594 [T/C] NM_001018046,NM_025052 MAP3K19,MAP3K19 EXON Silent,Missense_N950D exm229330 2 135743788 [T/C] NM_001018046,NM_025052 MAP3K19,MAP3K19 EXON Silent,Missense_R885Q exm229332 2 135743805 [A/T] NM_001018046,NM_025052 MAP3K19,MAP3K19 EXON Silent,Missense_S879R exm229335 2 135744007 [T/C] NM_001018046,NM_025052 MAP3K19,MAP3K19 EXON Silent,Missense_E812G exm229337 2 135744019 [G/C] NM_001018046,NM_025052 MAP3K19,MAP3K19 EXON Silent,Missense_S808C exm229338 2 135744089 [A/G] NM_001018046,NM_025052 MAP3K19,MAP3K19 EXON Silent,Missense_P785S exm229339 2 135744139 [T/C] NM_001018046,NM_025052 MAP3K19,MAP3K19 EXON Silent,Missense_Q768R exm229344 2 135744261 [A/C] NM_001018046,NM_025052 MAP3K19,MAP3K19 EXON Silent,Missense_K727N exm229346 2 135744271 [T/G] NM_001018046,NM_025052 MAP3K19,MAP3K19 EXON Silent,Missense_K724T exm229349 2 135744356 [A/G] NM_001018046,NM_025052 MAP3K19,MAP3K19 EXON Silent,Missense_R696C exm229354 2 135744416 [C/G] NM_001018046,NM_025052 MAP3K19,MAP3K19 EXON Silent,Missense_E676Q exm229355 2 135744418 [T/C] NM_001018046,NM_025052 MAP3K19,MAP3K19 EXON Silent,Missense_R675Q exm2236310 2 135744469 [T/C] NM_001018046,NM_025052 MAP3K19,MAP3K19 EXON Silent,Missense_N658S exm229359 2 135744563 [A/G] NM_001018046,NM_025052 MAP3K19,MAP3K19 EXON Silent,Missense_C627R exm229360 2 135744628 [T/C] NM_001018046,NM_025052 MAP3K19,MAP3K19 EXON Silent,Missense_R605Q exm229367 2 135744985 [A/T] NM_001018046,NM_025052 MAP3K19,MAP3K19 EXON Silent,Missense_H486L exm1980660 2 135745024 [T/C] NM_001018046,NM_025052 MAP3K19,MAP3K19 EXON Silent,Missense_R473K exm229370 2 135745034 [T/C] NM_001018046,NM_025052 MAP3K19,MAP3K19 EXON Silent,Missense_I470V exm229372 2 135745108 [T/C] NM_001018046,NM_025052 MAP3K19,MAP3K19 EXON Silent,Missense_S445N exm229374 2 135745129 [A/G] NM_001018046,NM_025052 MAP3K19,MAP3K19 EXON Silent,Missense_T438I exm229377 2 135745214 [T/C] NM_001018046,NM_025052 MAP3K19,MAP3K19 EXON Silent,Missense_M410V exm229378 2 135745223 [T/C] NM_001018046,NM_025052 MAP3K19,MAP3K19 EXON Silent,Missense_D407N exm229382 2 135745304 [A/G] NM_001018046,NM_025052 MAP3K19,MAP3K19 EXON Silent,Missense_Y380H exm229388 2 135745391 [A/C] NM_001018046,NM_025052 MAP3K19,MAP3K19 EXON Silent,Missense_C351G exm229398 2 135745648 [A/G] NM_001018046,NM_025052 MAP3K19,MAP3K19 EXON Silent,Missense_P265L exm229416 2 135756454 [T/A] NM_001018046,NM_025052 MAP3K19,MAP3K19 EXON Nonsense_L143X,Nonsense_L143X exm229418 2 135756466 [T/C] NM_001018046,NM_025052 MAP3K19,MAP3K19 EXON Missense_R139Q,Missense_R139Q exm229419 2 135756467 [A/G] NM_001018046,NM_025052 MAP3K19,MAP3K19 EXON Missense_R139W,Missense_R139W exm229421 2 135756499 [A/G] NM_001018046,NM_025052 MAP3K19,MAP3K19 EXON Missense_T128M,Missense_T128M exm229422 2 135756506 [T/A] NM_001018046,NM_025052 MAP3K19,MAP3K19 EXON Missense_I126L,Missense_I126L exm1980676 2 135757521 [C/G] NM_001018046,NM_025052 MAP3K19,MAP3K19 EXON Missense_D100E,Missense_D100E exm229426 2 135757586 [T/C] NM_001018046,NM_025052 MAP3K19,MAP3K19 Silent,Silent exm229429 2 135763085 [T/C] NM_001018046,NM_025052 MAP3K19,MAP3K19 EXON Missense_G52D,Missense_G52D exm229453 2 135810049 [A/G] NM_001172435,NM_012233 RAB3GAP1,RAB3GAP1 EXON Nonsense_W23X,Nonsense_W23X exm-rs7570971 2 135837906 [A/C] NM_001172435,NM_012233 RAB3GAP1,RAB3GAP1 Silent,Silent exm229458 2 135848601 [A/T] NM_001172435,NM_012233 RAB3GAP1,RAB3GAP1 EXON Missense_S62T,Missense_S62T exm229464 2 135870731 [T/C] NM_001172435,NM_012233 RAB3GAP1,RAB3GAP1 EXON Missense_R125C,Missense_R125C exm229472 2 135878409 [T/G] NM_001172435,NM_012233 RAB3GAP1,RAB3GAP1 EXON Missense_L223F,Missense_L223F exm2236312 2 135878464 [T/C] NM_001172435,NM_012233 RAB3GAP1,RAB3GAP1 EXON Missense_Y242H,Missense_Y242H exm229480 2 135881812 [A/G] NM_001172435,NM_012233 RAB3GAP1,RAB3GAP1 EXON Missense_I276V,Missense_I276V exm229486 2 135884166 [A/G] NM_001172435,NM_012233 RAB3GAP1,RAB3GAP1 EXON Missense_I305V,Missense_I305V exm229490 2 135887597 [T/C] NM_001172435,NM_012233 RAB3GAP1,RAB3GAP1 EXON Missense_R336C,Missense_R336C exm229499 2 135888281 [T/C] NM_001172435,NM_012233 RAB3GAP1,RAB3GAP1 EXON Missense_T409I,Missense_T409I exm229502 2 135890496 [G/C] NM_001172435,NM_012233 RAB3GAP1,RAB3GAP1 EXON Missense_P423R,Missense_P423R exm229504 2 135890535 [T/C] NM_001172435,NM_012233 RAB3GAP1,RAB3GAP1 EXON Missense_P436L,Missense_P436L exm229506 2 135890553 [A/G] NM_001172435,NM_012233 RAB3GAP1,RAB3GAP1 EXON Missense_Y442C,Missense_Y442C exm1980732 2 135891479 [A/C] NM_001172435,NM_012233 RAB3GAP1,RAB3GAP1 EXON Missense_K459Q,Missense_K459Q exm229518 2 135893260 [G/C] NM_001172435,NM_012233 RAB3GAP1,RAB3GAP1 EXON Missense_L561V,Missense_L561V exm229525 2 135893372 [A/G] NM_001172435,NM_012233 RAB3GAP1,RAB3GAP1 EXON Missense_N598S,Missense_N598S exm2261049 2 135911422 [T/C] NM_001172435,NM_012233 RAB3GAP1,RAB3GAP1 EXON Synonymous_F755F,Synonymous_F755F exm229541 2 135920164 [A/G] NM_001172435,NM_012233 RAB3GAP1,RAB3GAP1 EXON Missense_A777T,Missense_A777T exm229542 2 135920168 [A/G] NM_001172435,NM_012233 RAB3GAP1,RAB3GAP1 EXON Missense_R778Q,Missense_R778Q exm229554 2 135922233 [T/G] NM_001172435,NM_012233 RAB3GAP1,RAB3GAP1 EXON Missense_R892S,Missense_R892S exm2236315 2 135922257 [A/T] NM_001172435,NM_012233 RAB3GAP1,RAB3GAP1 EXON Missense_N900K,Missense_N900K exm229562 2 135926351 [A/G] NM_001172435,NM_012233 RAB3GAP1,RAB3GAP1 EXON Missense_X989W,Missense_X982W exm229570 2 135965002 [A/G] NM_032143 ZRANB3 Silent exm229577 2 135965204 [A/T] NM_032143 ZRANB3 EXON Missense_S937T exm229578 2 135965213 [A/G] NM_032143 ZRANB3 EXON Missense_R934W exm229581 2 135965272 [T/C] NM_032143 ZRANB3 EXON Missense_R914H exm229583 2 135965353 [T/C] NM_032143 ZRANB3 EXON Missense_Q887R exm229585 2 135965383 [T/C] NM_032143 ZRANB3 EXON Missense_C877Y exm229594 2 135975150 [T/G] NM_032143 ZRANB3 EXON Missense_S794R exm229596 2 135975167 [T/A] NM_032143 ZRANB3 EXON Missense_F788Y exm229602 2 135985403 [A/G] NM_032143 ZRANB3 EXON Missense_L713F exm229605 2 135985564 [T/C] NM_032143 ZRANB3 EXON Missense_N659S exm229606 2 135988127 [A/T] NM_032143 ZRANB3 EXON Missense_E637V exm229609 2 135988200 [A/C] NM_032143 ZRANB3 EXON Missense_A613S exm229611 2 135988224 [T/C] NM_032143 ZRANB3 EXON Missense_V605M exm229612 2 135988235 [T/C] NM_032143 ZRANB3 EXON Missense_R601Q exm229613 2 135988236 [A/G] NM_032143 ZRANB3 EXON Nonsense_R601X exm229614 2 135988238 [A/G] NM_032143 ZRANB3 EXON Missense_I600T exm229615 2 135988268 [A/G] NM_032143 ZRANB3 EXON Missense_S590L exm2273826 2 135988346 [A/C] NM_032143 ZRANB3 EXON Missense_I564S exm229620 2 135988400 [T/C] NM_032143 ZRANB3 EXON Missense_R546Q exm229622 2 135988416 [T/C] NM_032143 ZRANB3 EXON Missense_E541K exm229625 2 136023103 [T/C] NM_032143 ZRANB3 Silent exm229628 2 136023192 [T/G] NM_032143 ZRANB3 EXON Missense_K484T exm229629 2 136023210 [T/C] NM_032143 ZRANB3 EXON Missense_Q478R exm1980792 2 136026633 [T/C] NM_032143 ZRANB3 EXON Missense_D429N exm2275217 2 136029457 [T/C] NM_032143 ZRANB3 EXON Missense_T363A exm229643 2 136033279 [A/G] NM_032143 ZRANB3 EXON Missense_S338L exm229645 2 136033313 [T/C] NM_032143 ZRANB3 EXON Missense_K327E exm229650 2 136103161 [A/T] NM_032143 ZRANB3 EXON Missense_R212S exm229655 2 136107663 [T/C] NM_032143 ZRANB3 EXON Missense_Y161C exm229661 2 136107757 [G/C] NM_032143 ZRANB3 EXON Missense_L130V exm229663 2 136107777 [A/G] NM_032143 ZRANB3 EXON Missense_S123L exm229665 2 136111018 [A/C] NM_032143 ZRANB3 Silent exm229683 2 136262011 [A/G] NM_032143 ZRANB3 EXON Missense_C17R exm229684 2 136262025 [A/G] NM_032143 ZRANB3 EXON Missense_T12I exm229691 2 136374311 [T/G] NM_015361 R3HDM1 EXON Missense_I96R exm229703 2 136393658 [A/G] NM_015361 R3HDM1 EXON Missense_M270V exm229706 2 136396203 [A/G] NM_015361 R3HDM1 EXON Missense_E307K exm229707 2 136396212 [A/C] NM_015361 R3HDM1 EXON Missense_I310L exm229715 2 136396516 [G/C] NM_015361 R3HDM1 EXON Missense_T348S exm229721 2 136399276 [A/G] NM_015361 R3HDM1 EXON Missense_A464T exm229726 2 136399355 [A/G] NM_015361 R3HDM1 EXON Missense_Q490R exm2265352 2 136407479 [A/G] NM_015361 R3HDM1 Silent exm229741 2 136409454 [A/G] NM_015361 R3HDM1 EXON Missense_H592R exm229747 2 136409574 [A/C] NM_015361 R3HDM1 EXON Missense_Q632P exm229748 2 136418858 [A/G] NM_015361 R3HDM1 EXON Missense_A648T exm229750 2 136418868 [A/G] NM_015361 R3HDM1 EXON Missense_H651R exm229752 2 136418898 [T/C] NM_015361 R3HDM1 EXON Missense_P661L exm2236321 2 136418952 [T/C] NM_015361 R3HDM1 EXON Missense_A679V exm229768 2 136437833 [A/C] NM_015361 R3HDM1 EXON Missense_P765T exm229783 2 136467791 [A/G] NM_015361 R3HDM1 EXON Missense_N874S exm229796 2 136480112 [T/C] NM_015361 R3HDM1 EXON Missense_A978V exm229801 2 136481642 [A/G] NM_015361 R3HDM1 EXON Missense_R1027H exm229803 2 136481664 [T/G] NM_015361 R3HDM1 EXON Missense_S1034R exm229805 2 136481690 [A/G] NM_015361 R3HDM1 EXON Missense_R1043H exm2254597 2 136488978 [A/G] exm229835 2 136519456 [G/C] NM_014607 UBXN4 EXON Missense_E193Q exm229850 2 136536572 [A/G] NM_014607 UBXN4 EXON Missense_E370K exm229861 2 136537940 [C/G] NM_014607 UBXN4 EXON Missense_S458T exm2236322 2 136537941 [G/C] NM_014607 UBXN4 EXON Missense_S458R exm229866 2 136545910 [T/G] NM_002299 LCT EXON Missense_P1923Q exm229869 2 136545956 [A/G] NM_002299 LCT EXON Missense_R1908C exm2254600 2 136547199 [A/G] NM_002299 LCT EXON Synonymous_V1835V exm229903 2 136555641 [T/C] NM_002299 LCT EXON Missense_R1645Q exm229905 2 136555651 [A/T] NM_002299 LCT EXON Missense_M1642L exm229906 2 136555659 [T/C] NM_002299 LCT EXON Missense_N1639S exm229911 2 136558266 [T/C] NM_002299 LCT EXON Missense_V1593M exm229916 2 136558293 [T/C] NM_002299 LCT EXON Missense_D1584N exm229924 2 136561517 [T/C] NM_002299 LCT EXON Missense_Y1549C exm2275611 2 136562354 [A/C] NM_002299 LCT EXON Missense_A1483S exm229947 2 136564701 [T/A] NM_002299 LCT EXON Nonsense_Y1390X exm229952 2 136564924 [G/C] NM_002299 LCT EXON Missense_W1316S exm1980960 2 136564939 [T/C] NM_002299 LCT EXON Missense_R1311Q exm229956 2 136566060 [A/G] NM_002299 LCT EXON Missense_T1286I exm229957 2 136566069 [A/G] NM_002299 LCT EXON Missense_T1283M exm1980965 2 136566208 [C/G] NM_002299 LCT EXON Missense_D1237H exm229970 2 136566318 [A/G] NM_002299 LCT EXON Missense_T1200M exm229976 2 136566576 [T/C] NM_002299 LCT EXON Missense_Q1114R exm229980 2 136566631 [T/C] NM_002299 LCT EXON Missense_A1096T exm230002 2 136567203 [T/C] NM_002299 LCT EXON Missense_D905G exm230022 2 136569924 [T/G] NM_002299 LCT EXON Missense_L770F exm230029 2 136570168 [T/C] NM_002299 LCT EXON Missense_R689H exm230030 2 136570241 [T/C] NM_002299 LCT EXON Missense_E665K exm230044 2 136575048 [T/C] NM_002299 LCT EXON Missense_A524T exm230050 2 136575150 [T/C] NM_002299 LCT EXON Missense_E490K exm230055 2 136575300 [T/C] NM_002299 LCT EXON Missense_V440I exm230056 2 136575309 [T/C] NM_002299 LCT EXON Missense_A437T exm230057 2 136575336 [T/C] NM_002299 LCT EXON Missense_V428M exm1980978 2 136575359 [T/G] NM_002299 LCT EXON Missense_T420N exm230063 2 136575534 [T/C] NM_002299 LCT EXON Missense_I362V exm2236328 2 136575630 [T/C] NM_002299 LCT EXON Missense_M330V exm1980983 2 136587197 [T/C] NM_002299 LCT EXON Missense_E257G exm230080 2 136590746 [T/C] NM_002299 LCT EXON Missense_V219I exm230085 2 136594171 [A/G] NM_002299 LCT EXON Missense_S190L exm230086 2 136594253 [T/C] NM_002299 LCT EXON Missense_G163R exm230089 2 136594286 [T/C] NM_002299 LCT EXON Missense_A152T exm230096 2 136594370 [A/G] NM_002299 LCT EXON Missense_R124W exm230100 2 136594439 [T/C] NM_002299 LCT EXON Missense_S101G exm230111 2 136598413 [T/C] NM_005915 MCM6 EXON Missense_E820K exm230112 2 136598443 [A/G] NM_005915 MCM6 EXON Missense_Y810H exm230113 2 136598455 [T/C] NM_005915 MCM6 EXON Missense_E806K exm230114 2 136598457 [T/C] NM_005915 MCM6 EXON Missense_Y805C exm230122 2 136602249 [T/C] NM_005915 MCM6 EXON Missense_D739N exm230123 2 136603816 [T/C] NM_005915 MCM6 EXON Missense_V734M exm1981004 2 136603916 [A/C] NM_005915 MCM6 EXON Missense_N700K exm230144 2 136610460 [T/C] NM_005915 MCM6 EXON Missense_R551H exm230149 2 136614408 [T/C] NM_005915 MCM6 EXON Missense_I506V exm230152 2 136615549 [T/C] NM_005915 MCM6 EXON Missense_D463G exm230159 2 136620315 [T/C] NM_005915 MCM6 EXON Missense_N361S exm230161 2 136622591 [A/G] NM_005915 MCM6 EXON Missense_T357I exm230167 2 136623718 [A/G] NM_005915 MCM6 EXON Missense_A304V exm230173 2 136624138 [A/G] NM_005915 MCM6 EXON Missense_T259I exm230182 2 136624250 [A/G] NM_005915 MCM6 EXON Missense_R222C exm230183 2 136624264 [T/C] NM_005915 MCM6 EXON Missense_R217Q exm230193 2 136627911 [T/C] NM_005915 MCM6 EXON Missense_R92Q exm230194 2 136627912 [A/G] NM_005915 MCM6 EXON Missense_R92W exm230200 2 136630358 [T/G] NM_005915 MCM6 EXON Missense_R55S exm230209 2 136630401 [T/G] NM_005915 MCM6 EXON Missense_S40R exm230224 2 136668732 [A/G] NM_001349 DARS EXON Missense_P464L exm230234 2 136673814 [T/C] NM_001349 DARS EXON Missense_G363E exm230243 2 136680363 [T/C] NM_001349 DARS EXON Missense_I268V exm230254 2 136682043 [T/C] NM_001349 DARS EXON Missense_R197H exm230263 2 136691500 [A/G] NM_001349 DARS EXON Missense_P162S exm230268 2 136700968 [T/C] NM_001349 DARS EXON Missense_V135I exm230274 2 136718985 [A/T] NM_001349 DARS EXON Missense_M101L exm230309 2 136872987 [T/C] NM_003467,NM_001008540 CXCR4,CXCR4 EXON Missense_D171N,Missense_D175N exm230319 2 136873341 [T/G] NM_003467,NM_001008540 CXCR4,CXCR4 EXON Missense_I53L,Missense_I57L exm-rs882300 2 136976255 [T/C] exm-rs4452212 2 137015991 [A/G] exm2265353 2 137178771 [A/G] exm2254604 2 137312731 [A/C] exm-rs934299 2 137338940 [T/G] exm-rs1427593 2 137555224 [T/C] exm230354 2 137814608 [T/C] NM_001080427 THSD7B EXON Missense_L222P exm230356 2 137814709 [T/C] NM_001080427 THSD7B EXON Missense_H256Y exm230358 2 137814719 [T/C] NM_001080427 THSD7B EXON Missense_S259L exm230368 2 137852550 [A/G] NM_001080427 THSD7B EXON Missense_R322H exm230372 2 137852652 [A/C] NM_001080427 THSD7B EXON Missense_A356D exm230377 2 137872746 [A/G] NM_001080427 THSD7B EXON Missense_E387K exm2269139 2 137886196 [T/C] NM_001080427 THSD7B Silent exm230386 2 137928320 [T/C] NM_001080427 THSD7B EXON Missense_T481M exm230387 2 137928347 [C/G] NM_001080427 THSD7B EXON Missense_S490C exm230389 2 137928386 [T/C] NM_001080427 THSD7B EXON Missense_S503F exm230393 2 137928506 [A/G] NM_001080427 THSD7B EXON Missense_R543H exm230394 2 137988626 [T/C] NM_001080427 THSD7B EXON Missense_S548L exm230397 2 137988713 [T/C] NM_001080427 THSD7B EXON Missense_T577M exm230404 2 137990549 [A/G] NM_001080427 THSD7B EXON Missense_E635K exm230407 2 137990678 [T/C] NM_001080427 THSD7B EXON Missense_H678Y exm230422 2 138030234 [T/C] NM_001080427 THSD7B Silent exm230431 2 138163324 [T/C] NM_001080427 THSD7B EXON Missense_T850M exm230444 2 138208523 [A/G] NM_001080427 THSD7B EXON Missense_R992Q exm230446 2 138320832 [T/C] NM_001080427 THSD7B EXON Missense_I1031T exm230448 2 138320880 [C/G] NM_001080427 THSD7B EXON Missense_X1047S exm2265207 2 138332365 [A/G] NM_001080427 THSD7B Silent exm230462 2 138373831 [T/G] NM_001080427 THSD7B EXON Missense_R1141M exm230466 2 138375972 [T/A] NM_001080427 THSD7B EXON Missense_H1163L exm230477 2 138378229 [T/C] NM_001080427 THSD7B EXON Missense_A1215V exm230484 2 138400090 [C/G] NM_001080427 THSD7B EXON Missense_C1248W exm230485 2 138400103 [A/C] NM_001080427 THSD7B EXON Missense_K1253Q exm230492 2 138413146 [C/G] NM_001080427 THSD7B EXON Missense_Q1311H exm230495 2 138413153 [A/G] NM_001080427 THSD7B EXON Missense_V1314M exm230501 2 138414717 [T/C] NM_001080427 THSD7B EXON Missense_A1425V exm230506 2 138417313 [A/G] NM_001080427 THSD7B EXON Missense_H1456R exm230508 2 138420996 [A/G] NM_001080427 THSD7B EXON Missense_N1472D exm230511 2 138421075 [A/G] NM_001080427 THSD7B EXON Missense_G1498E exm2265355 2 138496511 [A/G] exm2265208 2 138716177 [A/G] exm230524 2 138727746 [T/C] NM_006895,NM_001024075 HNMT,HNMT EXON Missense_T50I,Missense_T50I exm1981660 2 138758524 [T/C] NM_006895 HNMT EXON Missense_A76V exm230535 2 138758542 [A/G] NM_006895 HNMT EXON Missense_C82Y exm230537 2 138758595 [A/G] NM_006895 HNMT EXON Missense_E100K exm230557 2 138771630 [A/C] NM_006895 HNMT EXON Missense_E270A exm230558 2 138771684 [T/C] NM_006895 HNMT EXON Missense_I288T exm2254614 2 139211959 [T/C] exm230562 2 139308067 [A/C] NM_001001664 SPOPL EXON Missense_K31N exm230570 2 139308625 [A/G] NM_001001664 SPOPL Silent exm230577 2 139316620 [T/C] NM_001001664 SPOPL EXON Missense_I170T exm230589 2 139316885 [A/G] NM_001001664 SPOPL EXON Missense_H231R exm230590 2 139316900 [A/G] NM_001001664 SPOPL EXON Missense_S236N exm230609 2 139326516 [A/G] NM_001001664 SPOPL EXON Missense_D349N exm230620 2 139428730 [T/C] NM_007226 NXPH2 EXON Missense_N186S exm230622 2 139428770 [G/C] NM_007226 NXPH2 EXON Missense_P173A exm2269141 2 139666757 [T/C] exm2254617 2 140146729 [T/C] exm-rs1399645 2 140147832 [T/C] exm-rs4369034 2 140494388 [A/G] exm2254621 2 140566297 [A/G] exm2269327 2 140750641 [T/G] exm230643 2 140990868 [T/C] NM_018557 LRP1B EXON Missense_A4563T exm230646 2 140990879 [T/C] NM_018557 LRP1B EXON Missense_N4559S exm2275612 2 140992440 [A/C] NM_018557 LRP1B EXON Missense_G4525V exm230658 2 140995843 [A/G] NM_018557 LRP1B EXON Missense_P4480S exm230675 2 141032021 [T/A] NM_018557 LRP1B EXON Missense_N4372Y exm230678 2 141032086 [T/C] NM_018557 LRP1B EXON Missense_R4350H exm230682 2 141032090 [T/C] NM_018557 LRP1B EXON Missense_T4349A exm230685 2 141032166 [A/G] NM_018557 LRP1B EXON Synonymous_Y4323Y exm230690 2 141055451 [G/C] NM_018557 LRP1B EXON Missense_T4298S exm230702 2 141079626 [A/T] NM_018557 LRP1B EXON Missense_E4182D exm230703 2 141079628 [T/C] NM_018557 LRP1B EXON Missense_E4182K exm230705 2 141081479 [T/C] NM_018557 LRP1B EXON Missense_R4166H exm230712 2 141083346 [T/C] NM_018557 LRP1B EXON Missense_V4109I exm230714 2 141092084 [T/G] NM_018557 LRP1B EXON Missense_E4054A exm230721 2 141093253 [A/G] NM_018557 LRP1B EXON Missense_P4016L exm2254624 2 141096291 [A/C] NM_018557 LRP1B Silent exm230726 2 141108442 [G/C] NM_018557 LRP1B EXON Missense_T3939S exm230735 2 141113924 [T/G] NM_018557 LRP1B EXON Missense_N3839K exm230736 2 141113930 [T/C] NM_018557 LRP1B EXON Missense_M3837I exm230739 2 141113994 [A/G] NM_018557 LRP1B EXON Missense_A3816V exm230742 2 141115595 [T/C] NM_018557 LRP1B EXON Missense_R3783Q exm230749 2 141116447 [T/G] NM_018557 LRP1B EXON Missense_Q3734K exm230758 2 141122239 [C/G] NM_018557 LRP1B EXON Missense_D3708H exm230763 2 141128357 [A/G] NM_018557 LRP1B EXON Missense_H3644Y exm230765 2 141128758 [C/G] NM_018557 LRP1B EXON Missense_G3622A exm230766 2 141128774 [A/G] NM_018557 LRP1B EXON Missense_Y3617H exm230776 2 141130669 [T/C] NM_018557 LRP1B EXON Missense_R3559Q exm230777 2 141130670 [A/G] NM_018557 LRP1B EXON Missense_R3559W exm230785 2 141143534 [A/T] NM_018557 LRP1B EXON Missense_N3487Y exm230789 2 141143578 [T/C] NM_018557 LRP1B EXON Missense_D3472G exm230791 2 141200082 [T/C] NM_018557 LRP1B EXON Missense_A3469T exm230794 2 141200115 [T/C] NM_018557 LRP1B EXON Missense_E3458K exm1982094 2 141208217 [G/C] NM_018557 LRP1B EXON Missense_T3326S exm230806 2 141214100 [T/C] NM_018557 LRP1B EXON Missense_H3296R exm230822 2 141232778 [T/C] NM_018557 LRP1B EXON Missense_N3185S exm230823 2 141232800 [T/C] NM_018557 LRP1B EXON Missense_A3178T exm230831 2 141242918 [T/C] NM_018557 LRP1B EXON Missense_Q3140R exm230833 2 141242936 [T/C] NM_018557 LRP1B EXON Missense_D3134G exm230836 2 141242972 [A/G] NM_018557 LRP1B EXON Missense_T3122I exm230845 2 141245223 [T/C] NM_018557 LRP1B EXON Missense_R3069H exm230849 2 141250262 [T/C] NM_018557 LRP1B EXON Missense_D3012G exm230853 2 141253281 [T/C] NM_018557 LRP1B EXON Missense_G2963S exm1982120 2 141259338 [T/C] NM_018557 LRP1B EXON Missense_R2923K exm230870 2 141259399 [A/C] NM_018557 LRP1B EXON Missense_C2903G exm230873 2 141259417 [T/C] NM_018557 LRP1B EXON Missense_M2897V exm230880 2 141260636 [T/G] NM_018557 LRP1B EXON Missense_A2853D exm230896 2 141267580 [T/C] NM_018557 LRP1B EXON Missense_R2772H exm230925 2 141291652 [T/C] NM_018557 LRP1B EXON Missense_H2567R exm2236344 2 141298571 [T/C] NM_018557 LRP1B EXON Missense_R2495Q exm230937 2 141298635 [T/C] NM_018557 LRP1B EXON Missense_G2474S exm1982151 2 141299349 [A/G] NM_018557 LRP1B EXON Synonymous_S2462S exm230941 2 141299369 [T/C] NM_018557 LRP1B EXON Missense_V2456I exm230952 2 141299501 [A/C] NM_018557 LRP1B EXON Missense_A2412S exm-rs491391 2 141362058 [A/C] NM_018557 LRP1B Silent exm230970 2 141457920 [T/C] NM_018557 LRP1B EXON Missense_Q2233R exm230971 2 141457962 [T/C] NM_018557 LRP1B EXON Missense_R2219H exm230972 2 141457963 [A/G] NM_018557 LRP1B EXON Missense_R2219C exm230977 2 141458124 [T/C] NM_018557 LRP1B EXON Missense_R2165Q exm230981 2 141458182 [A/C] NM_018557 LRP1B EXON Missense_V2146F exm230984 2 141459361 [A/G] NM_018557 LRP1B EXON Missense_T2119M exm1982236 2 141474293 [G/C] NM_018557 LRP1B EXON Missense_G1951R exm231015 2 141526805 [A/G] NM_018557 LRP1B EXON Missense_A1912V exm231017 2 141526814 [C/G] NM_018557 LRP1B EXON Missense_T1909S exm231032 2 141533769 [C/G] NM_018557 LRP1B EXON Missense_L1800V exm2254627 2 141571275 [A/G] NM_018557 LRP1B EXON Synonymous_I1770I exm231048 2 141597653 [T/C] NM_018557 LRP1B EXON Missense_K1706E exm231056 2 141607777 [T/C] NM_018557 LRP1B EXON Missense_I1611M exm231060 2 141607868 [T/C] NM_018557 LRP1B EXON Missense_R1581H exm1982309 2 141625359 [A/G] NM_018557 LRP1B EXON Missense_I1460T exm231089 2 141643778 [T/C] NM_018557 LRP1B EXON Missense_N1298S exm1982323 2 141665483 [G/C] NM_018557 LRP1B EXON Missense_K1161N exm231104 2 141680578 [A/G] NM_018557 LRP1B EXON Missense_I1092T exm231105 2 141680594 [T/C] NM_018557 LRP1B EXON Missense_G1087S exm231110 2 141680666 [T/C] NM_018557 LRP1B EXON Missense_D1063N exm231115 2 141707812 [C/G] NM_018557 LRP1B EXON Missense_T1043S exm2254628 2 141707868 [T/G] NM_018557 LRP1B EXON Synonymous_A1024A exm-rs12474609 2 141721142 [A/T] NM_018557 LRP1B Silent exm231137 2 141739803 [T/C] NM_018557 LRP1B EXON Missense_R938H exm231142 2 141739831 [A/C] NM_018557 LRP1B EXON Missense_V929L exm231143 2 141739845 [G/C] NM_018557 LRP1B EXON Missense_A924G exm231160 2 141751676 [T/C] NM_018557 LRP1B EXON Missense_I844M exm231164 2 141762941 [A/T] NM_018557 LRP1B EXON Missense_D822E exm1982373 2 141771224 [T/C] NM_018557 LRP1B EXON Missense_I761V exm231178 2 141771312 [A/C] NM_018557 LRP1B EXON Missense_I731M exm231187 2 141777554 [T/C] NM_018557 LRP1B EXON Missense_R636Q exm2254629 2 141790694 [A/G] NM_018557 LRP1B Silent exm2263952 2 141795269 [A/C] NM_018557 LRP1B Silent exm-rs10210358 2 141795620 [A/G] NM_018557 LRP1B Silent exm231193 2 141806668 [T/C] NM_018557 LRP1B EXON Missense_R559H exm231196 2 141806707 [A/T] NM_018557 LRP1B EXON Missense_D546V exm231212 2 141816515 [A/T] NM_018557 LRP1B EXON Missense_S449T exm231217 2 141819751 [T/C] NM_018557 LRP1B EXON Missense_T369A exm231224 2 141946030 [A/G] NM_018557 LRP1B EXON Missense_L325F exm231239 2 141986901 [T/C] NM_018557 LRP1B EXON Missense_E234G exm231244 2 142012151 [T/C] NM_018557 LRP1B EXON Missense_S135G exm231245 2 142012161 [T/C] NM_018557 LRP1B EXON Missense_M131I exm2265211 2 142077946 [A/G] NM_018557 LRP1B Silent exm-rs2683825 2 142109239 [T/G] NM_018557 LRP1B Silent exm2269328 2 142172028 [T/C] NM_018557 LRP1B Silent exm-rs12472911 2 142228509 [T/C] NM_018557 LRP1B Silent exm231248 2 142237974 [A/G] NM_018557 LRP1B EXON Missense_H112Y exm231252 2 142567860 [A/T] NM_018557 LRP1B EXON Missense_S65T exm231254 2 142567910 [T/C] NM_018557 LRP1B EXON Missense_Q48R exm2269143 2 142707328 [T/G] NM_018557 LRP1B Silent exm2263913 2 142856523 [A/C] NM_018557 LRP1B Silent exm2261067 2 143261959 [T/C] exm2269144 2 143508243 [T/G] exm231267 2 143643010 [T/C] NM_001032998,NM_003937,NM_001199241 KYNU,KYNU,KYNU EXON Missense_T25M,Missense_T25M,Missense_T25M exm231274 2 143676197 [T/G] NM_001032998,NM_003937,NM_001199241 KYNU,KYNU,KYNU EXON Missense_N63K,Missense_N63K,Missense_N63K exm1982980 2 143676291 [T/G] NM_001032998,NM_003937,NM_001199241 KYNU,KYNU,KYNU EXON Missense_A95S,Missense_A95S,Missense_A95S exm231283 2 143713791 [T/C] NM_001032998,NM_003937,NM_001199241 KYNU,KYNU,KYNU EXON Missense_T152M,Missense_T152M,Missense_T152M exm231286 2 143715220 [A/G] NM_001032998,NM_003937,NM_001199241 KYNU,KYNU,KYNU EXON Missense_E173G,Missense_E173G,Missense_E173G exm2236351 2 143715265 [A/G] NM_001032998,NM_003937,NM_001199241 KYNU,KYNU,KYNU EXON Missense_R188Q,Missense_R188Q,Missense_R188Q exm2254647 2 143718195 [A/G] NM_001032998,NM_003937,NM_001199241 KYNU,KYNU,KYNU EXON Synonymous_G195G,Synonymous_G195G,Synonymous_G195G exm231301 2 143742658 [T/G] NM_001032998,NM_003937,NM_001199241 KYNU,KYNU,KYNU EXON Missense_C245W,Missense_C245W,Missense_C245W exm2269145 2 143743012 [T/G] NM_001032998,NM_003937,NM_001199241 KYNU,KYNU,KYNU Silent,Silent,Silent exm231331 2 143798189 [A/G] NM_003937,NM_001199241 KYNU,KYNU EXON Missense_K412E,Missense_K412E exm231339 2 143799647 [T/C] NM_003937,NM_001199241 KYNU,KYNU EXON Missense_V435A,Missense_V435A exm231344 2 143799730 [A/G] NM_003937,NM_001199241 KYNU,KYNU EXON Missense_T463A,Missense_T463A exm231348 2 143913090 [A/G] NM_018460 ARHGAP15 EXON Missense_V11M exm231350 2 143913111 [T/C] NM_018460 ARHGAP15 EXON Missense_R18C exm231351 2 143959722 [A/G] NM_018460 ARHGAP15 EXON Missense_N62S exm2236352 2 143959734 [A/G] NM_018460 ARHGAP15 EXON Missense_H66R exm2263953 2 144092133 [A/C] NM_018460 ARHGAP15 Silent exm-rs7580625 2 144146850 [A/G] NM_018460 ARHGAP15 Silent exm231367 2 144193257 [A/G] NM_018460 ARHGAP15 EXON Missense_I188V exm231368 2 144193260 [C/G] NM_018460 ARHGAP15 EXON Missense_D189H exm-rs10928195 2 144428608 [C/G] NM_018460 ARHGAP15 Silent exm231395 2 144461048 [T/C] NM_018460 ARHGAP15 EXON Missense_P400L exm231397 2 144461081 [A/G] NM_018460 ARHGAP15 EXON Missense_G411E exm231398 2 144461090 [G/C] NM_018460 ARHGAP15 EXON Missense_T414S exm2254653 2 144463315 [A/G] NM_018460 ARHGAP15 Silent exm231405 2 144525724 [A/G] NM_018460 ARHGAP15 EXON Missense_G471S exm231418 2 144704655 [A/C] NM_001164629,NM_024659,NM_001006636 GTDC1,GTDC1,GTDC1 EXON Missense_R447S,Missense_R362S,Missense_R447S exm1983560 2 144704668 [T/C] NM_001164629,NM_024659,NM_001006636 GTDC1,GTDC1,GTDC1 EXON Missense_H443R,Missense_H358R,Missense_H443R exm231420 2 144704689 [A/G] NM_001164629,NM_024659,NM_001006636 GTDC1,GTDC1,GTDC1 EXON Missense_P436L,Missense_P351L,Missense_P436L exm231426 2 144710342 [C/G] NM_001164629,NM_024659,NM_001006636 GTDC1,GTDC1,GTDC1 EXON Missense_P400R,Missense_P315R,Missense_P400R exm231427 2 144710352 [T/C] NM_001164629,NM_024659,NM_001006636 GTDC1,GTDC1,GTDC1 EXON Missense_E397K,Missense_E312K,Missense_E397K exm231428 2 144710370 [T/C] NM_001164629,NM_024659,NM_001006636 GTDC1,GTDC1,GTDC1 EXON Missense_K391E,Missense_K306E,Missense_K391E exm231443 2 144764800 [T/C] NM_001164629,NM_024659,NM_001006636 GTDC1,GTDC1,GTDC1 EXON Missense_G275D,Missense_G275D,Missense_G275D exm231445 2 144764858 [T/C] NM_001164629,NM_024659,NM_001006636 GTDC1,GTDC1,GTDC1 EXON Missense_S256G,Missense_S256G,Missense_S256G exm231449 2 144764911 [T/C] NM_001164629,NM_024659,NM_001006636 GTDC1,GTDC1,GTDC1 EXON Missense_N238S,Missense_N238S,Missense_N238S exm231451 2 144764927 [T/G] NM_001164629,NM_024659,NM_001006636 GTDC1,GTDC1,GTDC1 EXON Missense_Q233K,Missense_Q233K,Missense_Q233K exm231457 2 144765026 [T/C] NM_001164629,NM_024659,NM_001006636 GTDC1,GTDC1,GTDC1 EXON Missense_M200V,Missense_M200V,Missense_M200V exm231459 2 144765055 [A/C] NM_001164629,NM_024659,NM_001006636 GTDC1,GTDC1,GTDC1 EXON Missense_L190R,Missense_L190R,Missense_L190R exm231461 2 144765076 [T/C] NM_001164629,NM_024659,NM_001006636 GTDC1,GTDC1,GTDC1 EXON Missense_H183R,Missense_H183R,Missense_H183R exm2265213 2 144803955 [A/G] NM_001164629,NM_024659,NM_001006636 GTDC1,GTDC1,GTDC1 Silent,Silent,Silent exm231462 2 144899457 [T/A] NM_001164629,NM_024659,NM_001006636 GTDC1,GTDC1,GTDC1 EXON Missense_D171E,Missense_D171E,Missense_D171E exm231463 2 144899482 [A/G] NM_001164629,NM_024659,NM_001006636 GTDC1,GTDC1,GTDC1 EXON Missense_I163T,Missense_I163T,Missense_I163T exm231465 2 144899509 [T/C] NM_001164629,NM_024659,NM_001006636 GTDC1,GTDC1,GTDC1 EXON Missense_S154N,Missense_S154N,Missense_S154N exm231469 2 144899559 [A/C] NM_001164629,NM_024659,NM_001006636 GTDC1,GTDC1,GTDC1 EXON Missense_M137I,Missense_M137I,Missense_M137I exm231470 2 144899563 [A/G] NM_001164629,NM_024659,NM_001006636 GTDC1,GTDC1,GTDC1 EXON Missense_S136F,Missense_S136F,Missense_S136F exm231471 2 144899581 [A/G] NM_001164629,NM_024659,NM_001006636 GTDC1,GTDC1,GTDC1 EXON Missense_M130T,Missense_M130T,Missense_M130T exm231472 2 144899591 [A/C] NM_001164629,NM_024659,NM_001006636 GTDC1,GTDC1,GTDC1 EXON Missense_V127F,Missense_V127F,Missense_V127F exm231477 2 144903182 [A/G] NM_001164629,NM_024659,NM_001006636 GTDC1,GTDC1,GTDC1 EXON Nonsense_Q102X,Nonsense_Q102X,Nonsense_Q102X exm231486 2 144966222 [A/G] NM_001164629,NM_024659,NM_001006636 GTDC1,GTDC1,GTDC1 EXON Missense_R43W,Missense_R43W,Missense_R43W exm1983636 2 144966285 [T/G] NM_001164629,NM_024659,NM_001006636 GTDC1,GTDC1,GTDC1 EXON Missense_Q22K,Missense_Q22K,Missense_Q22K exm231490 2 144966320 [T/C] NM_001164629,NM_024659,NM_001006636 GTDC1,GTDC1,GTDC1 EXON Missense_Y10C,Missense_Y10C,Missense_Y10C exm231509 2 145155899 [G/C] NM_001171653,NM_014795 ZEB2,ZEB2 EXON Missense_R928T,Missense_R952T exm231522 2 145156524 [T/C] NM_001171653,NM_014795 ZEB2,ZEB2 EXON Missense_I720V,Missense_I744V exm231524 2 145156548 [T/C] NM_001171653,NM_014795 ZEB2,ZEB2 EXON Missense_M712V,Missense_M736V exm2254657 2 145156549 [A/G] NM_001171653,NM_014795 ZEB2,ZEB2 EXON Synonymous_P711P,Synonymous_P735P exm231528 2 145156613 [A/G] NM_001171653,NM_014795 ZEB2,ZEB2 EXON Missense_P690L,Missense_P714L exm231530 2 145156670 [T/C] NM_001171653,NM_014795 ZEB2,ZEB2 EXON Missense_R671Q,Missense_R695Q exm231544 2 145157274 [A/G] NM_001171653,NM_014795 ZEB2,ZEB2 EXON Missense_P470S,Missense_P494S exm231546 2 145157316 [A/C] NM_001171653,NM_014795 ZEB2,ZEB2 EXON Missense_A456S,Missense_A480S exm231549 2 145157478 [A/T] NM_001171653,NM_014795 ZEB2,ZEB2 EXON Missense_L402I,Missense_L426I exm231573 2 145162529 [A/G] NM_001171653,NM_014795 ZEB2,ZEB2 EXON Missense_R132C,Missense_R156C exm231587 2 145187363 [A/T] NM_001171653,NM_014795 ZEB2,ZEB2 EXON Missense_I102F,Missense_I102F exm2236357 2 145187528 [A/C] NM_001171653,NM_014795 ZEB2,ZEB2 EXON Missense_A47S,Missense_A47S exm2269146 2 145255210 [T/C] NM_001171653,NM_014795 ZEB2,ZEB2 Silent,Silent exm2265357 2 145255778 [A/G] NM_001171653,NM_014795 ZEB2,ZEB2 Silent,Silent exm231593 2 145274869 [T/G] NM_001171653,NM_014795,NR_033258 ZEB2,ZEB2,ZEB2 EXON Missense_Q17K,Missense_Q17K,Silent exm231594 2 145274908 [G/C] NM_001171653,NM_014795,NR_033258 ZEB2,ZEB2,ZEB2 EXON Missense_P4A,Missense_P4A,Silent exm-rs2381683 2 145739556 [A/G] NR_033870 DKFZp686O1327 Silent exm-rs2252641 2 145801461 [T/C] NR_033870 DKFZp686O1327 Silent exm2269147 2 145871379 [T/C] exm-rs10427255 2 146125523 [T/C] exm2269330 2 146247003 [T/C] exm2269149 2 146693556 [T/G] exm2269331 2 146913332 [T/G] exm2265214 2 147292648 [A/G] exm-rs10928302 2 147372024 [T/C] exm-rs4411641 2 147596973 [A/G] exm2261081 2 148138082 [T/C] exm-rs7584099 2 148478336 [A/G] exm2269151 2 148563890 [T/C] exm231608 2 148657112 [A/T] NM_001616 ACVR2A EXON Missense_F117I exm2236361 2 148684782 [T/C] NM_001616 ACVR2A EXON Missense_I494T exm231626 2 148684799 [A/G] NM_001616 ACVR2A EXON Missense_M500V exm231633 2 148695747 [T/C] NM_181741,NM_002552,NM_001190879,NM_181742,NM_001190881,NM_001190882 ORC4,ORC4,ORC4,ORC4,ORC4,ORC4 EXON Missense_V364I,Missense_V364I,Missense_V364I,Missense_V364I,Missense_V280I,Missense_V290I exm231634 2 148695867 [T/C] NM_181741,NM_002552,NM_001190879,NM_181742,NM_001190881,NM_001190882 ORC4,ORC4,ORC4,ORC4,ORC4,ORC4 EXON Missense_E352K,Missense_E352K,Missense_E352K,Missense_E352K,Missense_E268K,Missense_E278K exm231637 2 148696765 [T/C] NM_181741,NM_002552,NM_001190879,NM_181742,NM_001190881,NM_001190882 ORC4,ORC4,ORC4,ORC4,ORC4,ORC4 EXON Missense_D301G,Missense_D301G,Missense_D301G,Missense_D301G,Missense_D217G,Missense_D227G exm231641 2 148696810 [A/G] NM_181741,NM_002552,NM_001190879,NM_181742,NM_001190881,NM_001190882 ORC4,ORC4,ORC4,ORC4,ORC4,ORC4 EXON Missense_A286V,Missense_A286V,Missense_A286V,Missense_A286V,Missense_A202V,Missense_A212V exm231649 2 148705778 [A/C] NM_181741,NM_002552,NM_001190879,NM_181742,NM_001190881,NM_001190882 ORC4,ORC4,ORC4,ORC4,ORC4,ORC4 EXON Missense_L202V,Missense_L202V,Missense_L202V,Missense_L202V,Missense_L118V,Missense_L128V exm231658 2 148715901 [A/G] NM_181741,NM_002552,NM_001190879,NM_181742,NM_001190881,NM_001190882 ORC4,ORC4,ORC4,ORC4,ORC4,ORC4 EXON Missense_L118S,Missense_L118S,Missense_L118S,Missense_L118S,Missense_L34S,Missense_L44S exm1985950 2 148716374 [T/C] NM_181741,NM_002552,NM_001190879,NM_181742,NM_001190881,NM_001190882 ORC4,ORC4,ORC4,ORC4,ORC4,ORC4 EXON Missense_Q96R,Missense_Q96R,Missense_Q96R,Missense_Q96R,Missense_Q12R,Missense_Q22R exm231661 2 148716428 [T/C] NM_181741,NM_002552,NM_001190879,NM_181742,NM_001190881,NM_001190882 ORC4,ORC4,ORC4,ORC4,ORC4,ORC4 EXON Missense_N78S,Missense_N78S,Missense_N78S,Missense_N78S,Silent,Missense_N4S exm231665 2 148730367 [C/G] NM_181741,NM_002552,NM_001190879,NM_181742,NM_001190881,NM_001190882 ORC4,ORC4,ORC4,ORC4,ORC4,ORC4 EXON Missense_L56V,Missense_L56V,Missense_L56V,Missense_L56V,Silent,Silent exm231672 2 148733505 [C/G] NM_181741,NM_002552,NM_001190879,NM_181742,NM_001190881,NM_001190882 ORC4,ORC4,ORC4,ORC4,ORC4,ORC4 EXON Missense_S8T,Missense_S8T,Missense_S8T,Missense_S8T,Silent,Silent exm2269152 2 148875643 [T/C] NM_018328 MBD5 Silent exm2261082 2 149210898 [A/G] NM_018328 MBD5 Silent exm231680 2 149221327 [A/G] NM_018328 MBD5 EXON Missense_G79E exm231687 2 149226111 [A/G] NM_018328 MBD5 EXON Missense_R200Q exm231699 2 149226567 [T/C] NM_018328 MBD5 EXON Missense_T352I exm231710 2 149226894 [A/G] NM_018328 MBD5 EXON Missense_R461H exm231715 2 149227047 [T/C] NM_018328 MBD5 EXON Missense_S512F exm231722 2 149227230 [C/G] NM_018328 MBD5 EXON Missense_S573C exm231735 2 149227542 [A/G] NM_018328 MBD5 EXON Missense_S677N exm231740 2 149227674 [T/C] NM_018328 MBD5 EXON Missense_P721L exm231743 2 149227766 [A/G] NM_018328 MBD5 EXON Missense_I752V exm231746 2 149227826 [A/C] NM_018328 MBD5 EXON Missense_N772H exm231754 2 149240765 [A/G] NM_018328 MBD5 EXON Missense_V869I exm231776 2 149243444 [C/G] NM_018328 MBD5 EXON Missense_Q993H exm231780 2 149243509 [A/G] NM_018328 MBD5 EXON Missense_Q1015R exm231782 2 149247043 [T/C] NM_018328 MBD5 EXON Missense_T1048I exm1986006 2 149247210 [A/G] NM_018328 MBD5 EXON Missense_I1104V exm231793 2 149247285 [T/C] NM_018328 MBD5 EXON Missense_S1129P exm231802 2 149247495 [A/G] NM_018328 MBD5 EXON Missense_G1199R exm231812 2 149247796 [A/G] NM_018328 MBD5 EXON Missense_R1299Q exm-rs10191411 2 149387968 [T/C] exm231834 2 149447942 [T/C] NM_015630 EPC2 EXON Missense_P105S exm231849 2 149511650 [A/G] NM_015630 EPC2 EXON Missense_N205S exm2236367 2 149520349 [A/G] NM_015630 EPC2 EXON Missense_K309R exm231866 2 149528428 [A/G] NM_015630 EPC2 EXON Missense_Y433C exm231870 2 149528717 [T/C] NM_015630 EPC2 EXON Missense_S494F exm231871 2 149528738 [A/G] NM_015630 EPC2 EXON Missense_N501S exm231873 2 149528838 [T/G] NM_015630 EPC2 EXON Missense_N534K exm231875 2 149528890 [A/G] NM_015630 EPC2 EXON Missense_V552M exm231877 2 149528935 [A/G] NM_015630 EPC2 EXON Missense_T567A exm-rs2121433 2 149557860 [T/C] exm-rs4499362 2 149568396 [T/C] exm2269153 2 149585078 [T/C] exm231918 2 149838032 [T/C] NM_004522 KIF5C EXON Missense_T509I exm231921 2 149847588 [T/C] NM_004522 KIF5C EXON Missense_M594T exm231951 2 149866864 [T/C] NM_004522 KIF5C EXON Synonymous_I922I exm231955 2 149868128 [A/G] NM_004522 KIF5C EXON Missense_A938T exm231961 2 149868179 [T/C] NM_004522 KIF5C EXON Missense_Y955H exm2269154 2 150000597 [T/C] NM_177964 LYPD6B Silent exm231963 2 150017286 [T/C] NM_177964 LYPD6B EXON Missense_T5I exm1986088 2 150061802 [A/G] NM_177964 LYPD6B EXON Missense_S38N exm231972 2 150061918 [T/C] NM_177964 LYPD6B EXON Missense_P77S exm231975 2 150064843 [A/C] NM_177964 LYPD6B EXON Missense_N82T exm231977 2 150064897 [A/G] NM_177964 LYPD6B EXON Missense_R100Q exm231990 2 150071156 [T/C] NM_177964 LYPD6B EXON Missense_S186P exm231993 2 150071216 [A/T] NM_177964 LYPD6B EXON Missense_L206M exm-rs1196705 2 150219222 [A/G] NM_001195685,NM_194317 LYPD6,LYPD6 Silent,Silent exm231995 2 150294223 [A/G] NM_001195685,NM_194317 LYPD6,LYPD6 EXON Missense_M1V,Missense_M1V exm232002 2 150305587 [A/C] NM_001195685,NM_194317 LYPD6,LYPD6 EXON Missense_K48T,Missense_K48T exm232003 2 150305610 [A/G] NM_001195685,NM_194317 LYPD6,LYPD6 EXON Missense_A56T,Missense_A56T exm232026 2 150426672 [A/G] NM_015702 MMADHC EXON Missense_P236L exm232028 2 150427678 [T/C] NM_015702 MMADHC EXON Missense_N206S exm232032 2 150432256 [A/G] NM_015702 MMADHC EXON Missense_V193A exm232033 2 150432277 [A/G] NM_015702 MMADHC EXON Missense_M186T exm1986114 2 150432319 [T/G] NM_015702 MMADHC EXON Missense_K172T exm232038 2 150432956 [T/C] NM_015702 MMADHC EXON Missense_R158Q exm232040 2 150432974 [C/G] NM_015702 MMADHC EXON Missense_T152R exm232045 2 150433001 [A/C] NM_015702 MMADHC EXON Missense_S143I exm232047 2 150433015 [T/G] NM_015702 MMADHC EXON Missense_E138D exm232048 2 150433017 [T/C] NM_015702 MMADHC EXON Missense_E138K exm232056 2 150438708 [T/G] NM_015702 MMADHC EXON Missense_K29N exm232059 2 150443604 [T/C] NM_015702 MMADHC EXON Missense_N3S exm2261083 2 150443813 [T/C] NM_015702 MMADHC Silent exm2265215 2 150572567 [A/G] exm-rs11889862 2 150697148 [A/G] exm2265359 2 151000108 [A/G] exm-rs6716455 2 151126403 [A/G] exm2265216 2 151319753 [A/G] exm232068 2 151326623 [T/C] NM_001254738,NM_005168 RND3,RND3 EXON Missense_V205I,Missense_V205I exm232072 2 151326680 [T/C] NM_001254738,NM_005168 RND3,RND3 EXON Missense_V186I,Missense_V186I exm232075 2 151326721 [T/G] NM_001254738,NM_005168 RND3,RND3 EXON Missense_A172D,Missense_A172D exm232078 2 151328160 [A/G] NM_001254738,NM_005168 RND3,RND3 EXON Missense_T155M,Missense_T155M exm2265360 2 152065857 [A/G] exm2269155 2 152085643 [T/C] exm232110 2 152107491 [T/C] NM_198557 RBM43 EXON Missense_I335V exm232118 2 152107719 [T/C] NM_198557 RBM43 EXON Missense_I259V exm232126 2 152107895 [T/C] NM_198557 RBM43 EXON Missense_N200S exm232127 2 152107913 [T/C] NM_198557 RBM43 EXON Missense_R194K exm232137 2 152109289 [T/C] NM_198557 RBM43 EXON Missense_V99I exm232138 2 152109303 [A/G] NM_198557 RBM43 EXON Missense_T94I exm232140 2 152109327 [A/C] NM_198557 RBM43 EXON Missense_R86M exm232144 2 152112161 [C/G] NM_198557 RBM43 EXON Missense_V34L exm1986152 2 152112190 [A/G] NM_198557 RBM43 EXON Missense_V24A exm232156 2 152127212 [T/C] NM_004688 NMI EXON Missense_E307K exm232157 2 152127215 [T/C] NM_004688 NMI EXON Missense_E306K exm232158 2 152127219 [T/G] NM_004688 NMI EXON Nonsense_Y304X exm232162 2 152127338 [T/C] NM_004688 NMI EXON Missense_I265V exm232163 2 152127340 [T/C] NM_004688 NMI EXON Missense_G264D exm232166 2 152128196 [T/G] NM_004688 NMI EXON Missense_T229P exm232191 2 152135369 [T/C] NM_004688 NMI EXON Missense_A105T exm232198 2 152138493 [A/G] NM_004688 NMI EXON Missense_T49M exm232206 2 152139416 [A/G] NM_004688 NMI EXON Missense_S16L exm232210 2 152214185 [A/T] NM_007115 TNFAIP6 EXON Missense_I2N exm232217 2 152220510 [A/G] NM_007115 TNFAIP6 EXON Missense_T50A exm232220 2 152220564 [T/C] NM_007115 TNFAIP6 EXON Missense_Y68H exm232224 2 152222684 [A/G] NM_007115 TNFAIP6 EXON Missense_R116H exm232225 2 152222730 [T/C] NM_007115 TNFAIP6 EXON Synonymous_H131H exm232226 2 152222731 [A/G] NM_007115 TNFAIP6 EXON Missense_A132T exm2265218 2 152224339 [A/G] NM_007115 TNFAIP6 Silent exm232228 2 152226541 [G/C] NM_007115 TNFAIP6 EXON Missense_E134D exm232229 2 152226570 [A/G] NM_007115 TNFAIP6 EXON Missense_Q144R exm232234 2 152226627 [A/G] NM_007115 TNFAIP6 EXON Nonsense_W163X exm232240 2 152235888 [A/G] NM_007115 TNFAIP6 EXON Missense_M225I exm2277207 2 152266992 [T/C] NM_001177663,NM_018151,NM_001177664,NM_001177665 RIF1,RIF1,RIF1,RIF1 EXON Missense_P19S,Missense_P19S,Missense_P19S,Missense_P19S exm232275 2 152273140 [T/C] NM_001177663,NM_018151,NM_001177664,NM_001177665 RIF1,RIF1,RIF1,RIF1 EXON Missense_R116C,Missense_R116C,Missense_R116C,Missense_R116C exm232284 2 152276741 [A/G] NM_001177663,NM_018151,NM_001177664,NM_001177665 RIF1,RIF1,RIF1,RIF1 EXON Missense_A181T,Missense_A181T,Missense_A181T,Missense_A181T exm232286 2 152276777 [A/G] NM_001177663,NM_018151,NM_001177664,NM_001177665 RIF1,RIF1,RIF1,RIF1 EXON Missense_V193I,Missense_V193I,Missense_V193I,Missense_V193I exm232295 2 152276870 [A/G] NM_001177663,NM_018151,NM_001177664,NM_001177665 RIF1,RIF1,RIF1,RIF1 EXON Missense_I224V,Missense_I224V,Missense_I224V,Missense_I224V exm232307 2 152292071 [A/G] NM_001177663,NM_018151,NM_001177664,NM_001177665 RIF1,RIF1,RIF1,RIF1 EXON Missense_N391S,Missense_N391S,Missense_N391S,Missense_N391S exm232310 2 152293353 [T/C] NM_001177663,NM_018151,NM_001177664,NM_001177665 RIF1,RIF1,RIF1,RIF1 EXON Missense_P403L,Missense_P403L,Missense_P403L,Missense_P403L exm232313 2 152293365 [T/C] NM_001177663,NM_018151,NM_001177664,NM_001177665 RIF1,RIF1,RIF1,RIF1 EXON Missense_P407L,Missense_P407L,Missense_P407L,Missense_P407L exm232315 2 152293370 [A/G] NM_001177663,NM_018151,NM_001177664,NM_001177665 RIF1,RIF1,RIF1,RIF1 EXON Missense_T409A,Missense_T409A,Missense_T409A,Missense_T409A exm232323 2 152293775 [A/G] NM_001177663,NM_018151,NM_001177664,NM_001177665 RIF1,RIF1,RIF1,RIF1 EXON Missense_I465V,Missense_I465V,Missense_I465V,Missense_I465V exm232327 2 152293802 [A/C] NM_001177663,NM_018151,NM_001177664,NM_001177665 RIF1,RIF1,RIF1,RIF1 EXON Missense_H474N,Missense_H474N,Missense_H474N,Missense_H474N exm232338 2 152296633 [A/G] NM_001177663,NM_018151,NM_001177664,NM_001177665 RIF1,RIF1,RIF1,RIF1 EXON Missense_K547E,Missense_K547E,Missense_K547E,Missense_K547E exm232340 2 152296641 [T/G] NM_001177663,NM_018151,NM_001177664,NM_001177665 RIF1,RIF1,RIF1,RIF1 EXON Synonymous_L549L,Synonymous_L549L,Synonymous_L549L,Synonymous_L549L exm232349 2 152300147 [A/G] NM_001177663,NM_018151,NM_001177664,NM_001177665 RIF1,RIF1,RIF1,RIF1 EXON Missense_K637R,Missense_K637R,Missense_K637R,Missense_K637R exm232373 2 152311570 [A/G] NM_001177663,NM_018151,NM_001177664,NM_001177665 RIF1,RIF1,RIF1,RIF1 EXON Missense_G836S,Missense_G836S,Missense_G836S,Missense_G836S exm232376 2 152311612 [A/G] NM_001177663,NM_018151,NM_001177664,NM_001177665 RIF1,RIF1,RIF1,RIF1 EXON Missense_M850V,Missense_M850V,Missense_M850V,Missense_M850V exm232402 2 152316514 [A/G] NM_001177663,NM_018151,NM_001177664,NM_001177665 RIF1,RIF1,RIF1,RIF1 EXON Missense_T986A,Missense_T986A,Missense_T986A,Missense_T986A exm232414 2 152318818 [A/G] NM_001177663,NM_018151,NM_001177664,NM_001177665 RIF1,RIF1,RIF1,RIF1 EXON Missense_Y1097C,Missense_Y1097C,Missense_Y1097C,Missense_Y1097C exm232423 2 152319458 [A/G] NM_001177663,NM_018151,NM_001177664,NM_001177665 RIF1,RIF1,RIF1,RIF1 EXON Missense_A1142T,Missense_A1142T,Missense_A1142T,Missense_A1142T exm232425 2 152319486 [T/C] NM_001177663,NM_018151,NM_001177664,NM_001177665 RIF1,RIF1,RIF1,RIF1 EXON Missense_S1151L,Missense_S1151L,Missense_S1151L,Missense_S1151L exm232437 2 152319755 [A/G] NM_001177663,NM_018151,NM_001177664,NM_001177665 RIF1,RIF1,RIF1,RIF1 EXON Missense_N1241D,Missense_N1241D,Missense_N1241D,Missense_N1241D exm232442 2 152319943 [C/G] NM_001177663,NM_018151,NM_001177664,NM_001177665 RIF1,RIF1,RIF1,RIF1 EXON Missense_K1303N,Missense_K1303N,Missense_K1303N,Missense_K1303N exm232451 2 152320118 [A/G] NM_001177663,NM_018151,NM_001177664,NM_001177665 RIF1,RIF1,RIF1,RIF1 EXON Missense_V1362M,Missense_V1362M,Missense_V1362M,Missense_V1362M exm232453 2 152320227 [T/C] NM_001177663,NM_018151,NM_001177664,NM_001177665 RIF1,RIF1,RIF1,RIF1 EXON Missense_M1398T,Missense_M1398T,Missense_M1398T,Missense_M1398T exm1986277 2 152320553 [A/G] NM_001177663,NM_018151,NM_001177664,NM_001177665 RIF1,RIF1,RIF1,RIF1 EXON Missense_D1507N,Missense_D1507N,Missense_D1507N,Missense_D1507N exm232480 2 152320700 [A/C] NM_001177663,NM_018151,NM_001177664,NM_001177665 RIF1,RIF1,RIF1,RIF1 EXON Missense_S1556R,Missense_S1556R,Missense_S1556R,Missense_S1556R exm232481 2 152320704 [T/C] NM_001177663,NM_018151,NM_001177664,NM_001177665 RIF1,RIF1,RIF1,RIF1 EXON Missense_S1557L,Missense_S1557L,Missense_S1557L,Missense_S1557L exm232482 2 152320764 [A/G] NM_001177663,NM_018151,NM_001177664,NM_001177665 RIF1,RIF1,RIF1,RIF1 EXON Missense_N1577S,Missense_N1577S,Missense_N1577S,Missense_N1577S exm232492 2 152320892 [A/G] NM_001177663,NM_018151,NM_001177664,NM_001177665 RIF1,RIF1,RIF1,RIF1 EXON Missense_E1620K,Missense_E1620K,Missense_E1620K,Missense_E1620K exm232494 2 152320921 [A/G] NM_001177663,NM_018151,NM_001177664,NM_001177665 RIF1,RIF1,RIF1,RIF1 EXON Missense_I1629M,Missense_I1629M,Missense_I1629M,Missense_I1629M exm232496 2 152320976 [A/G] NM_001177663,NM_018151,NM_001177664,NM_001177665 RIF1,RIF1,RIF1,RIF1 EXON Missense_N1648D,Missense_N1648D,Missense_N1648D,Missense_N1648D exm232502 2 152321090 [C/G] NM_001177663,NM_018151,NM_001177664,NM_001177665 RIF1,RIF1,RIF1,RIF1 EXON Missense_R1686G,Missense_R1686G,Missense_R1686G,Missense_R1686G exm232503 2 152321091 [A/G] NM_001177663,NM_018151,NM_001177664,NM_001177665 RIF1,RIF1,RIF1,RIF1 EXON Missense_R1686Q,Missense_R1686Q,Missense_R1686Q,Missense_R1686Q exm232514 2 152321303 [A/G] NM_001177663,NM_018151,NM_001177664,NM_001177665 RIF1,RIF1,RIF1,RIF1 EXON Missense_V1757I,Missense_V1757I,Missense_V1757I,Missense_V1757I exm1986285 2 152321457 [A/G] NM_001177663,NM_018151,NM_001177664,NM_001177665 RIF1,RIF1,RIF1,RIF1 EXON Missense_N1808S,Missense_N1808S,Missense_N1808S,Missense_N1808S exm232524 2 152321516 [T/C] NM_001177663,NM_018151,NM_001177664,NM_001177665 RIF1,RIF1,RIF1,RIF1 EXON Missense_P1828S,Missense_P1828S,Missense_P1828S,Missense_P1828S exm232525 2 152321538 [A/G] NM_001177663,NM_018151,NM_001177664,NM_001177665 RIF1,RIF1,RIF1,RIF1 EXON Missense_R1835K,Missense_R1835K,Missense_R1835K,Missense_R1835K exm232528 2 152321618 [A/G] NM_001177663,NM_018151,NM_001177664,NM_001177665 RIF1,RIF1,RIF1,RIF1 EXON Missense_V1862I,Missense_V1862I,Missense_V1862I,Missense_V1862I exm232531 2 152321679 [A/G] NM_001177663,NM_018151,NM_001177664,NM_001177665 RIF1,RIF1,RIF1,RIF1 EXON Missense_E1882G,Missense_E1882G,Missense_E1882G,Missense_E1882G exm232532 2 152321713 [T/G] NM_001177663,NM_018151,NM_001177664,NM_001177665 RIF1,RIF1,RIF1,RIF1 EXON Missense_S1893R,Missense_S1893R,Missense_S1893R,Missense_S1893R exm232537 2 152321856 [T/C] NM_001177663,NM_018151,NM_001177664,NM_001177665 RIF1,RIF1,RIF1,RIF1 EXON Missense_A1941V,Missense_A1941V,Missense_A1941V,Missense_A1941V exm232538 2 152321867 [A/G] NM_001177663,NM_018151,NM_001177664,NM_001177665 RIF1,RIF1,RIF1,RIF1 EXON Missense_E1945K,Missense_E1945K,Missense_E1945K,Missense_E1945K exm232542 2 152321952 [T/C] NM_001177663,NM_018151,NM_001177664,NM_001177665 RIF1,RIF1,RIF1,RIF1 EXON Missense_I1973T,Missense_I1973T,Missense_I1973T,Missense_I1973T exm232548 2 152322059 [T/C] NM_001177663,NM_018151,NM_001177664,NM_001177665 RIF1,RIF1,RIF1,RIF1 EXON Missense_H2009Y,Missense_H2009Y,Missense_H2009Y,Missense_H2009Y exm232550 2 152322095 [A/T] NM_001177663,NM_018151,NM_001177664,NM_001177665 RIF1,RIF1,RIF1,RIF1 EXON Missense_N2021Y,Missense_N2021Y,Missense_N2021Y,Missense_N2021Y exm232553 2 152322122 [A/G] NM_001177663,NM_018151,NM_001177664,NM_001177665 RIF1,RIF1,RIF1,RIF1 EXON Missense_M2030V,Missense_M2030V,Missense_M2030V,Missense_M2030V exm232555 2 152322139 [T/G] NM_001177663,NM_018151,NM_001177664,NM_001177665 RIF1,RIF1,RIF1,RIF1 EXON Missense_H2035Q,Missense_H2035Q,Missense_H2035Q,Missense_H2035Q exm232558 2 152322236 [T/G] NM_001177663,NM_018151,NM_001177664,NM_001177665 RIF1,RIF1,RIF1,RIF1 EXON Missense_C2068G,Missense_C2068G,Missense_C2068G,Missense_C2068G exm232561 2 152322278 [A/G] NM_001177663,NM_018151,NM_001177664,NM_001177665 RIF1,RIF1,RIF1,RIF1 EXON Missense_A2082T,Missense_A2082T,Missense_A2082T,Missense_A2082T exm232568 2 152322443 [A/G] NM_001177663,NM_018151,NM_001177664,NM_001177665 RIF1,RIF1,RIF1,RIF1 EXON Missense_I2137V,Missense_I2137V,Missense_I2137V,Missense_I2137V exm232575 2 152324568 [A/G] NM_001177663,NM_018151,NM_001177664,NM_001177665 RIF1,RIF1,RIF1,RIF1 EXON Missense_I2219V,Missense_I2219V,Missense_I2219V,Missense_I2219V exm1986292 2 152324595 [T/G] NM_001177663,NM_018151,NM_001177664,NM_001177665 RIF1,RIF1,RIF1,RIF1 EXON Missense_S2228A,Missense_S2228A,Missense_S2228A,Missense_S2228A exm232578 2 152325034 [T/G] NM_001177663,NM_018151,NM_001177664,NM_001177665 RIF1,RIF1,RIF1,RIF1 EXON Silent,Missense_S2265I,Silent,Silent exm232591 2 152330487 [T/C] NM_001177663,NM_018151,NM_001177664,NM_001177665 RIF1,RIF1,RIF1,RIF1 EXON Missense_R2343C,Missense_R2369C,Missense_R2343C,Missense_R2343C exm1986301 2 152330562 [T/C] NM_001177663,NM_018151,NM_001177664,NM_001177665 RIF1,RIF1,RIF1,RIF1 EXON Missense_P2368S,Missense_P2394S,Missense_P2368S,Missense_P2368S exm232595 2 152331418 [C/G] NM_001177663,NM_018151,NM_001177664,NM_001177665 RIF1,RIF1,RIF1,RIF1 EXON Missense_L2392V,Missense_L2418V,Missense_L2392V,Missense_L2392V exm1986304 2 152342288 [T/C] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_V6654I,Missense_V8522I,Missense_V8557I,Missense_V8522I exm232608 2 152342389 [T/C] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_K6620R,Missense_K8488R,Missense_K8523R,Missense_K8488R exm232611 2 152346522 [A/G] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_T6588M,Missense_T8456M,Missense_T8491M,Missense_T8456M exm232612 2 152346553 [A/G] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Nonsense_R6578X,Nonsense_R8446X,Nonsense_R8481X,Nonsense_R8446X exm232616 2 152346894 [A/G] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_V6562A,Missense_V8430A,Missense_V8465A,Missense_V8430A exm232620 2 152346979 [T/C] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_I6534V,Missense_I8402V,Missense_I8437V,Missense_I8402V exm1986309 2 152347020 [T/C] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_R6520H,Missense_R8388H,Missense_R8423H,Missense_R8388H exm232628 2 152348274 [T/C] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_R6490H,Missense_R8358H,Missense_R8393H,Missense_R8358H exm232636 2 152348933 [A/G] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_R6413W,Missense_R8281W,Missense_R8316W,Missense_R8281W exm232647 2 152350311 [T/C] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_R6349H,Missense_R8217H,Missense_R8252H,Missense_R8217H exm232652 2 152350675 [T/C] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Synonymous_S6325S,Synonymous_S8193S,Synonymous_S8228S,Synonymous_S8193S exm1986324 2 152350680 [T/C] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_S6324G,Missense_S8192G,Missense_S8227G,Missense_S8192G exm232654 2 152350734 [T/C] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_A6306T,Missense_A8174T,Missense_A8209T,Missense_A8174T exm232658 2 152354176 [T/C] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Silent,Missense_M8088I,Missense_M8123I,Missense_M8088I exm232667 2 152355885 [A/G] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Silent,Missense_V8014A,Missense_V8049A,Missense_V8014A exm232671 2 152359330 [A/G] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_R6256C,Missense_R7969C,Missense_R8004C,Missense_R7969C exm232674 2 152359395 [A/C] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_L6234W,Missense_L7947W,Missense_L7982W,Missense_L7947W exm232679 2 152359922 [A/G] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_P6213S,Missense_P7926S,Missense_P7961S,Missense_P7926S exm1986333 2 152359935 [G/C] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_L6208F,Missense_L7921F,Missense_L7956F,Missense_L7921F exm232690 2 152363424 [A/G] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_S6139L,Missense_S7852L,Missense_S7887L,Missense_S7852L exm232691 2 152363455 [A/G] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_R6129C,Missense_R7842C,Missense_R7877C,Missense_R7842C exm232694 2 152363484 [A/G] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_T6119I,Missense_T7832I,Missense_T7867I,Missense_T7832I exm232695 2 152363502 [T/C] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_N6113S,Missense_N7826S,Missense_N7861S,Missense_N7826S exm2236383 2 152364552 [A/C] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_Q6093H,Missense_Q7806H,Missense_Q7841H,Missense_Q7806H exm232697 2 152364589 [A/G] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_S6081L,Missense_S7794L,Missense_S7829L,Missense_S7794L exm232700 2 152369315 [T/C] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_N6047D,Missense_N7760D,Missense_N7795D,Missense_N7760D exm232701 2 152369326 [A/G] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_M6043T,Missense_M7756T,Missense_M7791T,Missense_M7756T exm1986346 2 152370194 [T/C] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_R6001Q,Missense_R7714Q,Missense_R7749Q,Missense_R7714Q exm232713 2 152372974 [T/C] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_G5922E,Missense_G7635E,Missense_G7670E,Missense_G7635E exm232721 2 152375532 [T/C] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_K5835E,Missense_K7548E,Missense_K7583E,Missense_K7548E exm232724 2 152376170 [A/G] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB Silent,Silent,Silent,Silent exm232730 2 152380872 [A/G] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_R5765C,Missense_R7478C,Missense_R7513C,Missense_R7478C exm232732 2 152381033 [C/G] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_S5744T,Missense_S7457T,Missense_S7492T,Missense_S7457T exm232733 2 152381762 [T/C] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_K5683R,Missense_K7396R,Missense_K7431R,Missense_K7396R exm232737 2 152382525 [G/C] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_P5657A,Missense_P7370A,Missense_P7405A,Missense_P7370A exm1986370 2 152382685 [T/A] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_N5633I,Missense_N7346I,Missense_N7381I,Missense_N7346I exm232749 2 152383521 [T/C] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_D5573N,Missense_D7286N,Missense_D7321N,Missense_D7286N exm232753 2 152385774 [C/G] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_D5516H,Missense_D7229H,Missense_D7264H,Missense_D7229H exm232754 2 152385786 [A/T] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_T5512S,Missense_T7225S,Missense_T7260S,Missense_T7225S exm2275274 2 152388306 [A/G] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Synonymous_D5461D,Synonymous_D7174D,Synonymous_D7209D,Synonymous_D7174D exm232766 2 152388409 [A/G] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_I5427T,Missense_I7140T,Missense_I7175T,Missense_I7140T exm232778 2 152394444 [G/C] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_S5302C,Missense_S7015C,Missense_S7015C,Missense_S7015C exm232779 2 152394695 [G/C] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_D5273H,Missense_D6986H,Missense_D6986H,Missense_D6986H exm232783 2 152394755 [A/G] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_R5253C,Missense_R6966C,Missense_R6966C,Missense_R6966C exm232788 2 152397972 [A/G] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_L5178F,Missense_L6891F,Missense_L6891F,Missense_L6891F exm232789 2 152397989 [A/G] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_A5172V,Missense_A6885V,Missense_A6885V,Missense_A6885V exm232814 2 152404198 [T/C] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_D5025N,Missense_D6738N,Missense_D6738N,Missense_D6738N exm232816 2 152404248 [A/G] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_L5008P,Missense_L6721P,Missense_L6721P,Missense_L6721P exm232817 2 152404851 [T/C] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_V4997I,Missense_V6710I,Missense_V6710I,Missense_V6710I exm232819 2 152404881 [T/G] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_L4987I,Missense_L6700I,Missense_L6700I,Missense_L6700I exm232821 2 152404901 [A/G] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_T4980I,Missense_T6693I,Missense_T6693I,Missense_T6693I exm232826 2 152406167 [A/G] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_R4965C,Missense_R6678C,Missense_R6678C,Missense_R6678C exm232833 2 152408331 [T/C] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_S4909N,Missense_S6622N,Missense_S6622N,Missense_S6622N exm232846 2 152410342 [A/G] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Synonymous_D4829D,Synonymous_D6542D,Synonymous_D6542D,Synonymous_D6542D exm232851 2 152410392 [T/C] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_D4813N,Missense_D6526N,Missense_D6526N,Missense_D6526N exm1986423 2 152410418 [T/C] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_R4804H,Missense_R6517H,Missense_R6517H,Missense_R6517H exm2273827 2 152417125 [T/C] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_Q4719R,Missense_Q6432R,Missense_Q6432R,Missense_Q6432R exm232869 2 152417134 [T/G] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_A4716D,Missense_A6429D,Missense_A6429D,Missense_A6429D exm232870 2 152417135 [T/C] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_A4716T,Missense_A6429T,Missense_A6429T,Missense_A6429T exm232874 2 152417201 [T/C] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_E4694K,Missense_E6407K,Missense_E6407K,Missense_E6407K exm232886 2 152419154 [T/C] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_V4575I,Missense_V6288I,Missense_V6288I,Missense_V6288I exm232888 2 152419156 [T/C] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_R4574H,Missense_R6287H,Missense_R6287H,Missense_R6287H exm232896 2 152419274 [A/G] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_P4535S,Missense_P6248S,Missense_P6248S,Missense_P6248S exm232900 2 152420120 [C/G] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Synonymous_A4518A,Synonymous_A6231A,Synonymous_A6231A,Synonymous_A6231A exm232902 2 152420160 [T/C] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_G4505D,Missense_G6218D,Missense_G6218D,Missense_G6218D exm232905 2 152420167 [A/G] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_F4503L,Missense_F6216L,Missense_F6216L,Missense_F6216L exm1986439 2 152420428 [A/G] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_A4450V,Missense_A6163V,Missense_A6163V,Missense_A6163V exm232914 2 152421565 [T/G] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_Y4442S,Missense_Y6155S,Missense_Y6155S,Missense_Y6155S exm232915 2 152421598 [T/C] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_H4431R,Missense_H6144R,Missense_H6144R,Missense_H6144R exm232917 2 152421619 [A/G] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_T4424M,Missense_T6137M,Missense_T6137M,Missense_T6137M exm232919 2 152421631 [T/C] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_K4420R,Missense_K6133R,Missense_K6133R,Missense_K6133R exm232921 2 152422076 [G/C] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_R4389T,Missense_R6102T,Missense_R6102T,Missense_R6102T exm232928 2 152423725 [T/C] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_N4325S,Missense_N6038S,Missense_N6038S,Missense_N6038S exm232934 2 152423951 [T/C] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_V4250I,Missense_V5963I,Missense_V5963I,Missense_V5963I exm232936 2 152424682 [T/C] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_K4203R,Missense_K5916R,Missense_K5916R,Missense_K5916R exm232950 2 152425807 [T/C] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_K4124R,Missense_K5837R,Missense_K5837R,Missense_K5837R exm232951 2 152425820 [T/C] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_V4120I,Missense_V5833I,Missense_V5833I,Missense_V5833I exm232964 2 152426810 [T/C] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_D4026N,Missense_D5739N,Missense_D5739N,Missense_D5739N exm232978 2 152432811 [A/T] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_S3875T,Missense_S5588T,Missense_S5588T,Missense_S5588T exm232986 2 152448567 [T/C] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Silent,Missense_N4936S,Missense_N4936S,Missense_N4936S exm1986478 2 152466337 [T/C] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_D3851N,Missense_D4106N,Missense_D4106N,Missense_D4106N exm233000 2 152466506 [T/C] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Synonymous_K3794K,Synonymous_K4049K,Synonymous_K4049K,Synonymous_K4049K exm233011 2 152468750 [T/C] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_D3664N,Missense_D3919N,Missense_D3919N,Missense_D3919N exm233012 2 152468776 [T/C] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_D3655G,Missense_D3910G,Missense_D3910G,Missense_D3910G exm233014 2 152468788 [A/C] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_R3651L,Missense_R3906L,Missense_R3906L,Missense_R3906L exm233026 2 152471058 [A/G] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_I3523T,Missense_I3778T,Missense_I3778T,Missense_I3778T exm233034 2 152473911 [C/G] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_M3461I,Missense_M3716I,Missense_M3716I,Missense_M3716I exm233036 2 152473943 [T/C] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_I3451V,Missense_I3706V,Missense_I3706V,Missense_I3706V exm233038 2 152473982 [A/G] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_R3438C,Missense_R3693C,Missense_R3693C,Missense_R3693C exm233052 2 152476028 [C/G] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_W3348C,Missense_W3603C,Missense_W3603C,Missense_W3603C exm233056 2 152476093 [T/C] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_V3327I,Missense_V3582I,Missense_V3582I,Missense_V3582I exm233062 2 152476254 [T/C] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_R3273H,Missense_R3528H,Missense_R3528H,Missense_R3528H exm233073 2 152482140 [T/C] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_E3199K,Missense_E3454K,Missense_E3454K,Missense_E3454K exm233075 2 152482152 [A/G] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_R3195C,Missense_R3450C,Missense_R3450C,Missense_R3450C exm233083 2 152483605 [A/G] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_R3165C,Missense_R3420C,Missense_R3420C,Missense_R3420C exm233086 2 152483662 [A/T] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_S3146T,Missense_S3401T,Missense_S3401T,Missense_S3401T exm233096 2 152484296 [T/C] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_R3040Q,Missense_R3295Q,Missense_R3295Q,Missense_R3295Q exm233097 2 152484302 [C/G] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_G3038A,Missense_G3293A,Missense_G3293A,Missense_G3293A exm233100 2 152484315 [T/C] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_G3034S,Missense_G3289S,Missense_G3289S,Missense_G3289S exm233106 2 152486141 [T/C] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_N2993S,Missense_N3248S,Missense_N3248S,Missense_N3248S exm233108 2 152487332 [T/C] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_R2952H,Missense_R3207H,Missense_R3207H,Missense_R3207H exm233113 2 152487808 [A/T] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Silent,Missense_I3156N,Missense_I3156N,Missense_I3156N exm233123 2 152490427 [T/C] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Silent,Missense_R3052Q,Missense_R3052Q,Missense_R3052Q exm233126 2 152490458 [A/G] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Silent,Missense_C3042R,Missense_C3042R,Missense_C3042R exm233129 2 152492772 [A/G] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Silent,Missense_A3024V,Missense_A3024V,Missense_A3024V exm233131 2 152492791 [T/C] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Silent,Missense_D3018N,Missense_D3018N,Missense_D3018N exm233132 2 152495810 [T/C] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Silent,Missense_K2993R,Missense_K2993R,Missense_K2993R exm233135 2 152496459 [T/C] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_R2934H,Missense_R2934H,Missense_R2934H,Missense_R2934H exm233138 2 152496526 [A/G] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_S2912P,Missense_S2912P,Missense_S2912P,Missense_S2912P exm233139 2 152496541 [T/C] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_G2907S,Missense_G2907S,Missense_G2907S,Missense_G2907S exm233146 2 152496910 [T/C] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_D2882N,Missense_D2882N,Missense_D2882N,Missense_D2882N exm233161 2 152499126 [T/C] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_I2779V,Missense_I2779V,Missense_I2779V,Missense_I2779V exm233162 2 152499143 [T/C] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_R2773Q,Missense_R2773Q,Missense_R2773Q,Missense_R2773Q exm233166 2 152499355 [T/C] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_D2730G,Missense_D2730G,Missense_D2730G,Missense_D2730G exm233170 2 152499752 [T/C] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_R2691H,Missense_R2691H,Missense_R2691H,Missense_R2691H exm233171 2 152499761 [T/C] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_H2688R,Missense_H2688R,Missense_H2688R,Missense_H2688R exm233172 2 152499785 [T/C] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_R2680Q,Missense_R2680Q,Missense_R2680Q,Missense_R2680Q exm233173 2 152499800 [T/C] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_D2675G,Missense_D2675G,Missense_D2675G,Missense_D2675G exm233193 2 152502666 [T/G] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_A2505E,Missense_A2505E,Missense_A2505E,Missense_A2505E exm233195 2 152502739 [T/C] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_R2481G,Missense_R2481G,Missense_R2481G,Missense_R2481G exm233200 2 152506811 [T/C] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_R2437Q,Missense_R2437Q,Missense_R2437Q,Missense_R2437Q exm233202 2 152506839 [T/C] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_G2428S,Missense_G2428S,Missense_G2428S,Missense_G2428S exm233207 2 152507189 [C/G] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_V2376L,Missense_V2376L,Missense_V2376L,Missense_V2376L exm233211 2 152507329 [A/G] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_P2329L,Missense_P2329L,Missense_P2329L,Missense_P2329L exm233218 2 152510604 [T/C] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_K2273E,Missense_K2273E,Missense_K2273E,Missense_K2273E exm233223 2 152511874 [A/C] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_I2239M,Missense_I2239M,Missense_I2239M,Missense_I2239M exm233245 2 152512884 [A/G] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_V2093A,Missense_V2093A,Missense_V2093A,Missense_V2093A exm233249 2 152514514 [T/C] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_R2056G,Missense_R2056G,Missense_R2056G,Missense_R2056G exm233252 2 152514592 [A/G] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_L2030F,Missense_L2030F,Missense_L2030F,Missense_L2030F exm233253 2 152515585 [T/C] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_M2023I,Missense_M2023I,Missense_M2023I,Missense_M2023I exm233254 2 152515683 [A/G] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_H1991Y,Missense_H1991Y,Missense_H1991Y,Missense_H1991Y exm233255 2 152518651 [T/C] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_E1990K,Missense_E1990K,Missense_E1990K,Missense_E1990K exm233259 2 152518714 [A/G] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_Y1969H,Missense_Y1969H,Missense_Y1969H,Missense_Y1969H exm233263 2 152518765 [T/C] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_M1952V,Missense_M1952V,Missense_M1952V,Missense_M1952V exm233267 2 152520078 [A/G] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_M1916T,Missense_M1916T,Missense_M1916T,Missense_M1916T exm2275614 2 152520145 [T/A] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_R1894W,Missense_R1894W,Missense_R1894W,Missense_R1894W exm233277 2 152520258 [T/C] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_R1856Q,Missense_R1856Q,Missense_R1856Q,Missense_R1856Q exm233278 2 152520260 [T/G] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_D1855E,Missense_D1855E,Missense_D1855E,Missense_D1855E exm233279 2 152520270 [A/C] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_M1852R,Missense_M1852R,Missense_M1852R,Missense_M1852R exm233281 2 152520322 [A/G] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_R1835W,Missense_R1835W,Missense_R1835W,Missense_R1835W exm233285 2 152521053 [T/C] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_I1805V,Missense_I1805V,Missense_I1805V,Missense_I1805V exm1986564 2 152521055 [T/G] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_A1804E,Missense_A1804E,Missense_A1804E,Missense_A1804E exm233293 2 152521860 [A/C] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_L1742R,Missense_L1742R,Missense_L1742R,Missense_L1742R exm233298 2 152521983 [A/G] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_V1701A,Missense_V1701A,Missense_V1701A,Missense_V1701A exm233306 2 152522605 [T/C] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_D1677G,Missense_D1677G,Missense_D1677G,Missense_D1677G exm233310 2 152522731 [A/G] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_T1635I,Missense_T1635I,Missense_T1635I,Missense_T1635I exm233312 2 152522801 [A/G] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_R1612C,Missense_R1612C,Missense_R1612C,Missense_R1612C exm233317 2 152524388 [T/C] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_K1550R,Missense_K1550R,Missense_K1550R,Missense_K1550R exm2273828 2 152525545 [T/C] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_S1536N,Missense_S1536N,Missense_S1536N,Missense_S1536N exm233322 2 152527572 [T/C] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_V1491M,Missense_V1491M,Missense_V1491M,Missense_V1491M exm233323 2 152527577 [T/C] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_G1489D,Missense_G1489D,Missense_G1489D,Missense_G1489D exm233325 2 152527580 [A/G] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_M1488T,Missense_M1488T,Missense_M1488T,Missense_M1488T exm233326 2 152527608 [T/C] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_V1479I,Missense_V1479I,Missense_V1479I,Missense_V1479I exm233329 2 152527636 [G/C] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_E1469D,Missense_E1469D,Missense_E1469D,Missense_E1469D exm233332 2 152527701 [T/C] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_G1448R,Missense_G1448R,Missense_G1448R,Missense_G1448R exm233339 2 152528976 [T/A] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_N1402K,Missense_N1402K,Missense_N1402K,Missense_N1402K exm233340 2 152528984 [T/C] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_A1400T,Missense_A1400T,Missense_A1400T,Missense_A1400T exm233348 2 152529193 [T/C] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_Y1330C,Missense_Y1330C,Missense_Y1330C,Missense_Y1330C exm233350 2 152530992 [T/G] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_D1329A,Missense_D1329A,Missense_D1329A,Missense_D1329A exm233353 2 152531077 [A/G] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_Y1301H,Missense_Y1301H,Missense_Y1301H,Missense_Y1301H exm233354 2 152531854 [T/G] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_P1276T,Missense_P1276T,Missense_P1276T,Missense_P1276T exm233357 2 152534137 [A/C] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_S1239I,Missense_S1239I,Missense_S1239I,Missense_S1239I exm233359 2 152534216 [T/C] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_V1213I,Missense_V1213I,Missense_V1213I,Missense_V1213I exm233362 2 152534260 [T/C] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_N1198S,Missense_N1198S,Missense_N1198S,Missense_N1198S exm233367 2 152534430 [T/C] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_D1176G,Missense_D1176G,Missense_D1176G,Missense_D1176G exm2273829 2 152534514 [A/G] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_A1148V,Missense_A1148V,Missense_A1148V,Missense_A1148V exm233376 2 152534541 [A/G] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_T1139M,Missense_T1139M,Missense_T1139M,Missense_T1139M exm1986597 2 152534545 [T/C] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_N1138D,Missense_N1138D,Missense_N1138D,Missense_N1138D exm233384 2 152536279 [T/G] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_I1071L,Missense_I1071L,Missense_I1071L,Missense_I1071L exm233386 2 152536299 [T/C] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_Y1064C,Missense_Y1064C,Missense_Y1064C,Missense_Y1064C exm233387 2 152536306 [T/C] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_K1062E,Missense_K1062E,Missense_K1062E,Missense_K1062E exm233393 2 152536498 [A/T] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_K1027N,Missense_K1027N,Missense_K1027N,Missense_K1027N exm233396 2 152537279 [C/G] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_V1003L,Missense_V1003L,Missense_V1003L,Missense_V1003L exm233408 2 152541356 [T/G] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_Y924S,Missense_Y924S,Missense_Y924S,Missense_Y924S exm1986605 2 152541486 [T/C] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_E881K,Missense_E881K,Missense_E881K,Missense_E881K exm233416 2 152541488 [T/C] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_R880H,Missense_R880H,Missense_R880H,Missense_R880H exm233419 2 152543967 [A/G] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_L868P,Missense_L868P,Missense_L868P,Missense_L868P exm233423 2 152544153 [T/C] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_K837R,Missense_K837R,Missense_K837R,Missense_K837R exm2254707 2 152544878 [T/C] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Synonymous_K781K,Synonymous_K781K,Synonymous_K781K,Synonymous_K781K exm233429 2 152544903 [T/C] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_Y773C,Missense_Y773C,Missense_Y773C,Missense_Y773C exm2261086 2 152546145 [T/C] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB Silent,Silent,Silent,Silent exm1986625 2 152548874 [A/T] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_R633S,Missense_R633S,Missense_R633S,Missense_R633S exm233447 2 152550877 [T/C] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_K619R,Missense_K619R,Missense_K619R,Missense_K619R exm233454 2 152553151 [A/G] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Synonymous_D523D,Synonymous_D523D,Synonymous_D523D,Synonymous_D523D exm233455 2 152553170 [T/C] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_N517S,Missense_N517S,Missense_N517S,Missense_N517S exm233465 2 152553971 [T/C] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_K420E,Missense_K420E,Missense_K420E,Missense_K420E exm233471 2 152554104 [A/G] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_T404I,Missense_T404I,Missense_T404I,Missense_T404I exm233481 2 152566961 [T/C] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_D305G,Missense_D305G,Missense_D305G,Missense_D305G exm233484 2 152566998 [A/G] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_P293S,Missense_P293S,Missense_P293S,Missense_P293S exm233485 2 152567012 [T/C] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_K288R,Missense_K288R,Missense_K288R,Missense_K288R exm233496 2 152580815 [C/G] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_E191Q,Missense_E191Q,Missense_E191Q,Missense_E191Q exm233497 2 152580847 [T/C] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_K180R,Missense_K180R,Missense_K180R,Missense_K180R exm233501 2 152581409 [T/C] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_I157V,Missense_I157V,Missense_I157V,Missense_I157V exm233504 2 152582002 [A/G] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_R123C,Missense_R123C,Missense_R123C,Missense_R123C exm233511 2 152584282 [A/G] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_R73W,Missense_R73W,Missense_R73W,Missense_R73W exm233520 2 152586146 [T/C] NM_004543,NM_001164508,NM_001271208,NM_001164507 NEB,NEB,NEB,NEB EXON Missense_E21K,Missense_E21K,Missense_E21K,Missense_E21K exm233531 2 152659806 [T/C] NM_177985,NM_001037174,NM_012097 ARL5A,ARL5A,ARL5A EXON Missense_R138Q,Missense_R138Q,Missense_R175Q exm233541 2 152670703 [T/C] NM_177985,NM_001037174,NM_012097 ARL5A,ARL5A,ARL5A EXON Missense_T42A,Missense_T42A,Missense_T79A exm233575 2 152727089 [T/C] NM_001005746,NM_001145798,NM_000726,NM_001005747 CACNB4,CACNB4,CACNB4,CACNB4 EXON Missense_M201V,Missense_M219V,Missense_M219V,Missense_M185V exm233582 2 152737393 [A/C] NM_001005746,NM_001145798,NM_000726,NM_001005747 CACNB4,CACNB4,CACNB4,CACNB4 EXON Missense_C86F,Missense_C104F,Missense_C104F,Missense_C70F exm2265219 2 152859992 [A/G] NM_001005746,NM_001145798,NM_000726 CACNB4,CACNB4,CACNB4 Silent,Silent,Silent exm233593 2 152955482 [C/G] NM_001145798,NM_000726 CACNB4,CACNB4 EXON Missense_P15R,Missense_P15R exm233598 2 152977188 [A/G] NM_005843 STAM2 EXON Missense_T493I exm233606 2 152977284 [T/C] NM_005843 STAM2 EXON Missense_Y461C exm233616 2 152982745 [T/C] NM_005843 STAM2 EXON Missense_M392V exm233634 2 152989932 [A/G] NM_005843 STAM2 EXON Missense_P289L exm233640 2 152989998 [A/G] NM_005843 STAM2 EXON Missense_A267V exm233646 2 153000432 [A/G] NM_005843 STAM2 EXON Missense_R205W exm233657 2 153004633 [T/G] NM_005843 STAM2 EXON Missense_L69I exm233674 2 153192170 [A/G] NM_052905 FMNL2 EXON Missense_N18S exm2269156 2 153331400 [T/C] NM_052905 FMNL2 Silent exm2263954 2 153357383 [A/C] NM_052905 FMNL2 Silent exm233690 2 153405580 [C/G] NM_052905 FMNL2 EXON Missense_L110V exm233695 2 153415294 [G/C] NM_052905 FMNL2 EXON Missense_D134H exm233697 2 153415333 [T/G] NM_052905 FMNL2 EXON Missense_V147L exm233699 2 153417503 [T/C] NM_052905 FMNL2 EXON Missense_P184S exm233700 2 153431683 [A/C] NM_052905 FMNL2 EXON Missense_K210N exm233704 2 153463871 [T/C] NM_052905 FMNL2 EXON Missense_R299C exm233710 2 153468112 [A/G] NM_052905 FMNL2 EXON Missense_Y352C exm233714 2 153471441 [T/C] NM_052905 FMNL2 EXON Missense_A380V exm233723 2 153475556 [T/C] NM_052905 FMNL2 EXON Missense_M504T exm233727 2 153475643 [T/C] NM_052905 FMNL2 EXON Missense_L533P exm233728 2 153475663 [T/C] NM_052905 FMNL2 EXON Missense_P540S exm233747 2 153476155 [T/C] NM_052905 FMNL2 EXON Missense_L587S exm233748 2 153476157 [T/G] NM_052905 FMNL2 EXON Missense_A588S exm233756 2 153483135 [G/C] NM_052905 FMNL2 EXON Missense_G687R exm233764 2 153486180 [T/C] NM_052905 FMNL2 EXON Missense_A804V exm233772 2 153493102 [G/C] NM_052905 FMNL2 EXON Missense_Q948E exm233828 2 153526877 [A/G] NM_017892 PRPF40A EXON Nonsense_R500X exm233852 2 153533070 [T/C] NM_017892 PRPF40A EXON Missense_I294V exm233900 2 153575305 [T/G] NM_152522,NR_024526 ARL6IP6,ARL6IP6 EXON Missense_R56L,Silent exm1986869 2 153575472 [T/C] NM_152522,NR_024526 ARL6IP6,ARL6IP6 EXON Missense_L112F,Silent exm233935 2 153591633 [A/G] NM_152522,NR_024526 ARL6IP6,ARL6IP6 EXON Missense_R194G,Silent exm2265220 2 153891830 [A/G] exm2261088 2 154410388 [A/G] exm2269157 2 154452223 [T/G] exm-rs10497135 2 154494454 [A/G] exm2269335 2 154808697 [T/C] NM_052917 GALNT13 Silent exm233961 2 154996884 [T/A] NM_052917 GALNT13 EXON Missense_E59D exm-rs958672 2 155070567 [A/T] NM_052917 GALNT13 Silent exm2236415 2 155098653 [A/G] NM_052917 GALNT13 EXON Missense_R141H exm233971 2 155099270 [A/G] NM_052917 GALNT13 EXON Missense_I180V exm233978 2 155099418 [A/G] NM_052917 GALNT13 EXON Missense_R229K exm233992 2 155158079 [A/G] NM_052917 GALNT13 EXON Missense_D378G exm-rs707040 2 155226677 [T/C] NM_052917 GALNT13 Silent exm233997 2 155252535 [A/G] NM_052917 GALNT13 EXON Missense_V397I exm234001 2 155252623 [A/G] NM_052917 GALNT13 EXON Missense_R426H exm234012 2 155295173 [C/G] NM_052917,NM_001256368 GALNT13,LOC100144595 EXON Missense_G489R,Silent exm234013 2 155295203 [A/G] NM_052917,NM_001256368 GALNT13,LOC100144595 EXON Missense_M499V,Silent exm234029 2 155555406 [A/G] NM_001260509,NM_001260510,NM_002239,NM_001260508 KCNJ3,KCNJ3,KCNJ3,KCNJ3 EXON Missense_K40R,Missense_K40R,Missense_K40R,Missense_K40R exm2265222 2 155661432 [A/G] NM_002239,NM_001260508 KCNJ3,KCNJ3 Silent,Silent exm2269336 2 155720940 [T/C] exm2263914 2 156136927 [A/C] exm2269158 2 156700901 [T/C] exm-rs1918172 2 156888500 [G/C] exm2263955 2 156893605 [A/C] exm-rs16839962 2 156925286 [A/T] exm2265223 2 156935758 [A/G] exm-rs10189160 2 157012321 [A/G] exm-rs17188434 2 157096776 [T/C] exm234116 2 157186391 [T/C] NM_006186 NR4A2 EXON Missense_H103R exm234117 2 157186410 [T/C] NM_006186 NR4A2 EXON Missense_M97V exm234130 2 157352676 [A/G] NM_001083112,NM_000408 GPD2,GPD2 EXON Missense_I75V,Missense_I75V exm234135 2 157367335 [A/G] NM_001083112,NM_000408 GPD2,GPD2 EXON Missense_D101G,Missense_D101G exm234138 2 157368740 [A/G] NM_001083112,NM_000408 GPD2,GPD2 EXON Missense_M136I,Missense_M136I exm234139 2 157368763 [A/G] NM_001083112,NM_000408 GPD2,GPD2 EXON Missense_R144H,Missense_R144H exm234148 2 157369961 [T/C] NM_001083112,NM_000408 GPD2,GPD2 EXON Missense_P205L,Missense_P205L exm234156 2 157406135 [T/C] NM_001083112,NM_000408 GPD2,GPD2 EXON Missense_A226V,Missense_A226V exm234160 2 157406249 [A/G] NM_001083112,NM_000408 GPD2,GPD2 EXON Missense_R264H,Missense_R264H exm234169 2 157407209 [A/G] NM_001083112,NM_000408 GPD2,GPD2 EXON Missense_I308V,Missense_I308V exm2236423 2 157414020 [A/G] NM_001083112,NM_000408 GPD2,GPD2 EXON Missense_H364R,Missense_H364R exm234189 2 157425931 [A/C] NM_001083112,NM_000408 GPD2,GPD2 EXON Missense_K453Q,Missense_K453Q exm234193 2 157426048 [A/G] NM_001083112,NM_000408 GPD2,GPD2 EXON Missense_E492K,Missense_E492K exm234197 2 157426705 [T/C] NM_001083112,NM_000408 GPD2,GPD2 EXON Missense_S528L,Missense_S528L exm234201 2 157427698 [A/G] NM_001083112,NM_000408 GPD2,GPD2 EXON Missense_R554H,Missense_R554H exm1987149 2 157427707 [A/G] NM_001083112,NM_000408 GPD2,GPD2 EXON Missense_R557H,Missense_R557H exm234205 2 157427743 [T/C] NM_001083112,NM_000408 GPD2,GPD2 EXON Missense_A569V,Missense_A569V exm234206 2 157427763 [C/G] NM_001083112,NM_000408 GPD2,GPD2 EXON Missense_L576V,Missense_L576V exm234211 2 157435456 [A/G] NM_001083112,NM_000408 GPD2,GPD2 EXON Missense_R608Q,Missense_R608Q exm234212 2 157435476 [T/C] NM_001083112,NM_000408 GPD2,GPD2 EXON Missense_R615C,Missense_R615C exm234219 2 157439395 [T/C] NM_001083112,NM_000408 GPD2,GPD2 EXON Missense_P717S,Missense_P717S exm-rs7601713 2 157552860 [A/C] exm2265224 2 157558583 [A/G] exm234233 2 158114759 [A/C] NM_014568 GALNT5 EXON Synonymous_I55I exm234234 2 158114824 [T/C] NM_014568 GALNT5 EXON Missense_P77L exm234238 2 158115030 [A/G] NM_014568 GALNT5 EXON Missense_G146R exm234240 2 158115129 [A/T] NM_014568 GALNT5 EXON Missense_T179S exm234253 2 158115430 [T/C] NM_014568 GALNT5 EXON Missense_P279L exm234259 2 158115693 [A/T] NM_014568 GALNT5 EXON Missense_S367T exm234266 2 158115750 [A/G] NM_014568 GALNT5 EXON Missense_T386A exm234267 2 158115754 [A/G] NM_014568 GALNT5 EXON Missense_G387E exm234268 2 158115780 [A/G] NM_014568 GALNT5 EXON Missense_I396V exm2261092 2 158121465 [T/C] NM_014568 GALNT5 Silent exm234282 2 158142557 [T/C] NM_014568 GALNT5 EXON Missense_M551T exm234284 2 158142587 [A/G] NM_014568 GALNT5 EXON Missense_R561H exm234285 2 158142614 [C/G] NM_014568 GALNT5 EXON Missense_R570T exm234298 2 158156095 [A/C] NM_014568 GALNT5 EXON Missense_D678A exm234302 2 158156151 [C/G] NM_014568 GALNT5 EXON Missense_G697R exm234309 2 158157282 [A/G] NM_014568 GALNT5 EXON Missense_R737Q exm234317 2 158157422 [T/C] NM_014568 GALNT5 EXON Nonsense_R784X exm234321 2 158157473 [C/G] NM_014568 GALNT5 EXON Missense_P801A exm234327 2 158162323 [A/C] NM_014568 GALNT5 EXON Missense_D834E exm1987237 2 158162327 [A/G] NM_014568 GALNT5 EXON Missense_D836N exm234328 2 158162341 [A/G] NM_014568 GALNT5 EXON Synonymous_E840E exm1987239 2 158165079 [T/C] NM_014568 GALNT5 EXON Missense_L841F exm234331 2 158165119 [A/G] NM_014568 GALNT5 EXON Missense_C854Y exm234333 2 158165160 [A/G] NM_014568 GALNT5 EXON Missense_V868I exm234338 2 158165232 [T/C] NM_014568 GALNT5 EXON Missense_P892S exm234343 2 158167856 [T/C] NM_014568 GALNT5 EXON Missense_A940V exm234345 2 158177847 [T/C] NM_020711,NM_001009959 ERMN,ERMN EXON Missense_R264Q,Missense_R277Q exm234350 2 158178001 [T/C] NM_020711,NM_001009959 ERMN,ERMN EXON Missense_V213I,Missense_V226I exm234352 2 158178075 [T/C] NM_020711,NM_001009959 ERMN,ERMN EXON Missense_D188G,Missense_D201G exm234358 2 158178271 [T/C] NM_020711,NM_001009959 ERMN,ERMN EXON Missense_S123G,Missense_S136G exm234364 2 158182001 [T/C] NM_020711,NM_001009959 ERMN,ERMN EXON Missense_A52T,Missense_A65T exm234367 2 158182141 [A/G] NM_020711,NM_001009959 ERMN,ERMN EXON Missense_P5L,Missense_P18L exm234374 2 158272220 [T/C] NM_004288 CYTIP EXON Missense_R350H exm1987259 2 158272332 [T/C] NM_004288 CYTIP EXON Missense_M313V exm234384 2 158272481 [A/G] NM_004288 CYTIP EXON Missense_T263M exm234385 2 158272488 [A/G] NM_004288 CYTIP EXON Missense_Y261H exm234386 2 158272504 [T/C] NM_004288 CYTIP EXON Missense_M255I exm234390 2 158272652 [T/C] NM_004288 CYTIP EXON Missense_D206G exm234407 2 158290914 [C/G] NM_004288 CYTIP EXON Missense_Q83E exm234419 2 158300424 [T/C] NM_004288 CYTIP EXON Missense_D37N exm234422 2 158300469 [C/G] NM_004288 CYTIP EXON Missense_P22A exm2273361 2 158386938 [T/C] NM_145259,NM_001111033,NM_001111032,NM_001111031 ACVR1C,ACVR1C,ACVR1C,ACVR1C EXON Silent,Silent,Silent,Silent exm234426 2 158390453 [T/C] NM_145259,NM_001111033,NM_001111032,NM_001111031 ACVR1C,ACVR1C,ACVR1C,ACVR1C EXON Missense_V487I,Missense_V330I,Missense_V407I,Missense_V437I exm234427 2 158390468 [T/C] NM_145259,NM_001111033,NM_001111032,NM_001111031 ACVR1C,ACVR1C,ACVR1C,ACVR1C EXON Missense_I482V,Missense_I325V,Missense_I402V,Missense_I432V exm234437 2 158395209 [A/G] NM_145259,NM_001111033,NM_001111032,NM_001111031 ACVR1C,ACVR1C,ACVR1C,ACVR1C EXON Missense_V411A,Missense_V254A,Missense_V331A,Missense_V361A exm234463 2 158406865 [A/G] NM_145259,NM_001111033,NM_001111032,NM_001111031 ACVR1C,ACVR1C,ACVR1C,ACVR1C EXON Missense_I195T,Silent,Missense_I115T,Missense_I145T exm234468 2 158412701 [T/G] NM_145259,NM_001111033,NM_001111032,NM_001111031 ACVR1C,ACVR1C,ACVR1C,ACVR1C EXON Missense_N150H,Silent,Silent,Missense_N100H exm234471 2 158412733 [T/C] NM_145259,NM_001111033,NM_001111032,NM_001111031 ACVR1C,ACVR1C,ACVR1C,ACVR1C EXON Missense_R139Q,Silent,Silent,Missense_R89Q exm234474 2 158412788 [C/G] NM_145259,NM_001111033,NM_001111032,NM_001111031 ACVR1C,ACVR1C,ACVR1C,ACVR1C EXON Missense_P121A,Silent,Silent,Missense_P71A exm2269160 2 158437683 [T/C] NM_145259,NM_001111033,NM_001111032,NM_001111031 ACVR1C,ACVR1C,ACVR1C,ACVR1C Silent,Silent,Silent,Silent exm234530 2 158637039 [C/G] NM_001105,NM_001111067 ACVR1,ACVR1 EXON Missense_H47Q,Missense_H47Q exm234531 2 158637053 [T/C] NM_001105,NM_001111067 ACVR1,ACVR1 EXON Missense_G43S,Missense_G43S exm234537 2 158655962 [C/G] NM_001105,NM_001111067 ACVR1,ACVR1 EXON Missense_A15G,Missense_A15G exm2269338 2 158667217 [T/C] NM_001105,NM_001111067 ACVR1,ACVR1 Silent,Silent exm-rs6759948 2 158889593 [A/G] NM_001135098 UPP2 Silent exm234545 2 158958565 [T/C] NM_001135098,NM_173355 UPP2,UPP2 EXON Missense_I54T,Silent exm234546 2 158958580 [G/C] NM_001135098,NM_173355 UPP2,UPP2 EXON Missense_A59G,Missense_A2G exm234549 2 158958605 [T/G] NM_001135098,NM_173355 UPP2,UPP2 EXON Missense_R67S,Missense_R10S exm234556 2 158962701 [T/C] NM_001135098,NM_173355 UPP2,UPP2 EXON Synonymous_N108N,Synonymous_N51N exm234565 2 158971664 [A/C] NM_001135098,NM_173355 UPP2,UPP2 EXON Missense_M135L,Missense_M78L exm234567 2 158971679 [A/G] NM_001135098,NM_173355 UPP2,UPP2 EXON Missense_G140R,Missense_G83R exm234571 2 158971771 [T/C] NM_001135098,NM_173355 UPP2,UPP2 EXON Synonymous_S170S,Synonymous_S113S exm234573 2 158974403 [A/G] NM_001135098,NM_173355 UPP2,UPP2 EXON Missense_R193Q,Missense_R136Q exm-rs2074955 2 158977794 [A/G] NM_001135098,NM_173355 UPP2,UPP2 Silent,Silent exm234582 2 158978094 [A/G] NM_001135098,NM_173355 UPP2,UPP2 EXON Missense_V267I,Missense_V210I exm234585 2 158980270 [T/G] NM_001135098,NM_173355 UPP2,UPP2 EXON Missense_R282L,Missense_R225L exm234593 2 158991346 [T/C] NM_001135098,NM_173355 UPP2,UPP2 EXON Missense_R357W,Missense_R300W exm234602 2 159028639 [T/C] NR_038850,NM_138803 CCDC148-AS1,CCDC148 EXON Silent,Missense_V588I exm234610 2 159028750 [A/G] NR_038850,NM_138803 CCDC148-AS1,CCDC148 EXON Silent,Missense_R551C exm234611 2 159028765 [A/C] NR_038850,NM_138803 CCDC148-AS1,CCDC148 EXON Silent,Missense_S546A exm234615 2 159033098 [T/C] NR_038850,NM_138803 CCDC148-AS1,CCDC148 EXON Silent,Missense_E522K exm1987326 2 159033142 [T/C] NR_038850,NM_138803 CCDC148-AS1,CCDC148 EXON Silent,Missense_R507K exm234618 2 159033160 [A/G] NR_038850,NM_138803 CCDC148-AS1,CCDC148 EXON Silent,Missense_A501V exm234621 2 159035416 [T/C] NR_038850,NM_138803 CCDC148-AS1,CCDC148 EXON Silent,Missense_R488Q exm2265225 2 159105196 [A/G] NM_138803 CCDC148 Silent exm234641 2 159166069 [T/C] NM_138803,NM_001171637 CCDC148,CCDC148 EXON Missense_K329R,Missense_K243R exm234643 2 159166135 [T/A] NM_138803,NM_001171637 CCDC148,CCDC148 EXON Missense_Y307F,Missense_Y221F exm234644 2 159166142 [T/C] NM_138803,NM_001171637 CCDC148,CCDC148 EXON Missense_E305K,Missense_E219K exm234646 2 159170286 [T/G] NM_138803,NM_001171637 CCDC148,CCDC148 EXON Missense_H295Q,Missense_H209Q exm234647 2 159170302 [T/C] NM_138803,NM_001171637 CCDC148,CCDC148 EXON Missense_Q290R,Missense_Q204R exm234650 2 159170402 [A/G] NM_138803,NM_001171637 CCDC148,CCDC148 EXON Missense_C257R,Missense_C171R exm234656 2 159195308 [A/G] NM_138803,NM_001171637 CCDC148,CCDC148 EXON Missense_F232L,Missense_F146L exm234658 2 159195335 [T/C] NM_138803,NM_001171637 CCDC148,CCDC148 EXON Missense_D223N,Missense_D137N exm234660 2 159195385 [A/G] NM_138803,NM_001171637 CCDC148,CCDC148 EXON Missense_P206L,Missense_P120L exm234664 2 159196771 [T/C] NM_138803,NM_001171637 CCDC148,CCDC148 EXON Missense_M157V,Missense_M71V exm1987354 2 159196789 [T/G] NM_138803,NM_001171637 CCDC148,CCDC148 EXON Missense_H151N,Missense_H65N exm234666 2 159196848 [T/C] NM_138803,NM_001171637 CCDC148,CCDC148 EXON Missense_Q131R,Missense_Q45R exm234669 2 159197157 [T/C] NM_138803,NM_001171637 CCDC148,CCDC148 EXON Missense_N96S,Missense_N10S exm234671 2 159201754 [T/C] NM_138803,NM_001171637 CCDC148,CCDC148 EXON Missense_Q75R,Silent exm234674 2 159214984 [G/C] NM_138803,NM_001171637 CCDC148,CCDC148 EXON Missense_A42P,Silent exm234679 2 159215032 [A/G] NM_138803,NM_001171637 CCDC148,CCDC148 EXON Missense_P26S,Silent exm234686 2 159312941 [A/G] NM_138803,NM_001171637 CCDC148,CCDC148 EXON Missense_A4V,Silent exm234688 2 159389749 [T/G] NM_001005476,NM_003628 PKP4,PKP4 EXON Missense_R18L,Missense_R18L exm234691 2 159389817 [A/G] NM_001005476,NM_003628 PKP4,PKP4 EXON Missense_V41M,Missense_V41M exm2269161 2 159446818 [T/G] NM_001005476,NM_003628 PKP4,PKP4 Silent,Silent exm234700 2 159459601 [T/C] NM_001005476,NM_003628 PKP4,PKP4 EXON Missense_P89S,Missense_P89S exm234702 2 159477550 [A/G] NM_001005476,NM_003628 PKP4,PKP4 EXON Missense_Q110R,Missense_Q110R exm234707 2 159477634 [T/G] NM_001005476,NM_003628 PKP4,PKP4 Silent,Silent exm234721 2 159481624 [A/G] NM_001005476,NM_003628 PKP4,PKP4 EXON Missense_A280T,Missense_A280T exm234723 2 159481646 [A/G] NM_001005476,NM_003628 PKP4,PKP4 EXON Missense_R287Q,Missense_R287Q exm234729 2 159481742 [T/C] NM_001005476,NM_003628 PKP4,PKP4 EXON Missense_T319M,Missense_T319M exm234732 2 159481768 [T/C] NM_001005476,NM_003628 PKP4,PKP4 EXON Missense_P328S,Missense_P328S exm234733 2 159481802 [A/G] NM_001005476,NM_003628 PKP4,PKP4 EXON Missense_K339R,Missense_K339R exm234735 2 159481864 [T/G] NM_001005476,NM_003628 PKP4,PKP4 EXON Missense_D360Y,Missense_D360Y exm234736 2 159481865 [A/G] NM_001005476,NM_003628 PKP4,PKP4 EXON Missense_D360G,Missense_D360G exm234738 2 159488270 [T/C] NM_001005476,NM_003628 PKP4,PKP4 EXON Missense_R387W,Missense_R387W exm234754 2 159490618 [A/G] NM_001005476,NM_003628 PKP4,PKP4 EXON Missense_R460Q,Missense_R460Q exm234761 2 159490758 [A/G] NM_001005476,NM_003628 PKP4,PKP4 EXON Missense_T507A,Missense_T507A exm234762 2 159490803 [T/C] NM_001005476,NM_003628 PKP4,PKP4 Silent,Silent exm234764 2 159497153 [A/G] NM_001005476,NM_003628 PKP4,PKP4 EXON Missense_R526H,Missense_R526H exm234773 2 159499113 [A/G] NM_001005476,NM_003628 PKP4,PKP4 EXON Missense_D604G,Missense_D604G exm2261095 2 159516667 [A/G] NM_001005476,NM_003628 PKP4,PKP4 Silent,Silent exm234788 2 159517871 [T/C] NM_001005476,NM_003628 PKP4,PKP4 EXON Missense_A707V,Missense_A707V exm234791 2 159517919 [A/G] NM_001005476,NM_003628 PKP4,PKP4 EXON Missense_Y723C,Missense_Y723C exm234793 2 159517931 [T/C] NM_001005476,NM_003628 PKP4,PKP4 EXON Missense_T727M,Missense_T727M exm234797 2 159517954 [A/G] NM_001005476,NM_003628 PKP4,PKP4 EXON Missense_D735N,Missense_D735N exm234804 2 159519458 [A/G] NM_001005476,NM_003628 PKP4,PKP4 EXON Missense_E754G,Missense_E754G exm234811 2 159519539 [C/G] NM_001005476,NM_003628 PKP4,PKP4 EXON Missense_S781C,Missense_S781C exm234815 2 159519581 [A/G] NM_001005476,NM_003628 PKP4,PKP4 EXON Missense_R795K,Missense_R795K exm2236439 2 159530456 [A/G] NM_001005476,NM_003628 PKP4,PKP4 EXON Missense_K1024R,Missense_K1024R exm234854 2 159533252 [T/C] NM_001005476,NM_003628 PKP4,PKP4 EXON Silent,Synonymous_V1043V exm234857 2 159533294 [A/C] NM_001005476,NM_003628 PKP4,PKP4 EXON Silent,Missense_D1057E exm234866 2 159536978 [A/G] NM_001005476,NM_003628 PKP4,PKP4 EXON Missense_R1080K,Missense_R1123K exm234867 2 159536990 [T/A] NM_001005476,NM_003628 PKP4,PKP4 EXON Missense_D1084V,Missense_D1127V exm234873 2 159537101 [T/C] NM_001005476,NM_003628 PKP4,PKP4 EXON Missense_S1121L,Missense_S1164L exm234874 2 159537137 [A/G] NM_001005476,NM_003628 PKP4,PKP4 EXON Missense_R1133Q,Missense_R1176Q exm234884 2 159660805 [T/G] NM_001017920 DAPL1 EXON Nonsense_G24X exm234888 2 159663599 [T/C] NM_001017920 DAPL1 EXON Missense_L60P exm234889 2 159663601 [A/G] NM_001017920 DAPL1 EXON Missense_D61N exm234892 2 159663616 [A/G] NM_001017920 DAPL1 EXON Missense_A66T exm234893 2 159663617 [A/C] NM_001017920 DAPL1 EXON Missense_A66E exm234898 2 159672251 [T/C] NM_001017920 DAPL1 EXON Missense_A81V exm234900 2 159672287 [T/A] NM_001017920 DAPL1 EXON Missense_V93D exm234904 2 159672322 [T/C] NM_001017920 DAPL1 EXON Nonsense_R105X exm234920 2 159954175 [T/C] NM_001145909,NM_033394 TANC1,TANC1 EXON Missense_P30S,Missense_P30S exm234922 2 159954295 [A/C] NM_001145909,NM_033394 TANC1,TANC1 EXON Missense_L70M,Missense_L70M exm234926 2 159992750 [A/G] NM_001145909,NM_033394 TANC1,TANC1 EXON Missense_G102E,Missense_G102E exm234930 2 160005664 [A/G] NM_001145909,NM_033394 TANC1,TANC1 EXON Missense_D125N,Missense_D126N exm234937 2 160005743 [C/G] NM_001145909,NM_033394 TANC1,TANC1 EXON Missense_S151T,Missense_S152T exm234939 2 160005754 [A/G] NM_001145909,NM_033394 TANC1,TANC1 EXON Missense_I155V,Missense_I156V exm234950 2 160006983 [A/C] NM_001145909,NM_033394 TANC1,TANC1 EXON Missense_S199R,Missense_S200R exm234956 2 160019833 [A/G] NM_001145909,NM_033394 TANC1,TANC1 EXON Missense_G240D,Missense_G241D exm234957 2 160019863 [A/G] NM_001145909,NM_033394 TANC1,TANC1 EXON Missense_N250S,Missense_N251S exm234958 2 160019901 [T/C] NM_001145909,NM_033394 TANC1,TANC1 EXON Missense_R263C,Missense_R264C exm234962 2 160019962 [T/C] NM_001145909,NM_033394 TANC1,TANC1 EXON Missense_T283M,Missense_T284M exm234984 2 160027235 [A/G] NM_001145909,NM_033394 TANC1,TANC1 EXON Missense_I416V,Missense_I424V exm234987 2 160027304 [T/G] NM_001145909,NM_033394 TANC1,TANC1 EXON Missense_S439A,Missense_S447A exm234993 2 160028693 [T/G] NM_001145909,NM_033394 TANC1,TANC1 EXON Missense_S463R,Missense_S471R exm234994 2 160028700 [A/G] NM_001145909,NM_033394 TANC1,TANC1 EXON Missense_S466G,Missense_S474G exm234996 2 160028733 [A/G] NM_001145909,NM_033394 TANC1,TANC1 EXON Missense_A477T,Missense_A485T exm235013 2 160035215 [T/C] NM_001145909,NM_033394 TANC1,TANC1 EXON Missense_A676V,Missense_A684V exm235017 2 160035346 [A/G] NM_001145909,NM_033394 TANC1,TANC1 EXON Missense_V720M,Missense_V728M exm235023 2 160035475 [A/G] NM_001145909,NM_033394 TANC1,TANC1 EXON Missense_E763K,Missense_E771K exm235027 2 160035542 [A/G] NM_001145909,NM_033394 TANC1,TANC1 EXON Missense_Q785R,Missense_Q793R exm235050 2 160050798 [A/G] NM_001145909,NM_033394 TANC1,TANC1 EXON Missense_N917D,Missense_N925D exm235060 2 160050912 [A/G] NM_001145909,NM_033394 TANC1,TANC1 EXON Missense_G955R,Missense_G963R exm235061 2 160050916 [T/C] NM_001145909,NM_033394 TANC1,TANC1 EXON Missense_T956M,Missense_T964M exm-rs1035055 2 160057141 [A/C] NM_001145909,NM_033394 TANC1,TANC1 Silent,Silent exm235078 2 160074080 [T/C] NM_001145909,NM_033394 TANC1,TANC1 EXON Missense_S1098L,Missense_S1106L exm235104 2 160076227 [A/G] NM_001145909,NM_033394 TANC1,TANC1 EXON Missense_K1168R,Missense_K1176R exm235107 2 160076262 [A/G] NM_001145909,NM_033394 TANC1,TANC1 EXON Missense_K1180E,Missense_K1188E exm235114 2 160076373 [A/G] NM_001145909,NM_033394 TANC1,TANC1 EXON Missense_E1217K,Missense_E1225K exm235124 2 160082256 [A/G] NM_001145909,NM_033394 TANC1,TANC1 EXON Missense_Q1282R,Missense_Q1290R exm235145 2 160086101 [A/C] NM_001145909,NM_033394 TANC1,TANC1 EXON Missense_Q1382P,Synonymous_A1388A exm235150 2 160086172 [A/G] NM_001145909,NM_033394 TANC1,TANC1 EXON Silent,Missense_R1412H exm235156 2 160086255 [A/G] NM_001145909,NM_033394 TANC1,TANC1 EXON Silent,Missense_E1440K exm235157 2 160086279 [T/C] NM_001145909,NM_033394 TANC1,TANC1 EXON Silent,Missense_P1448S exm235158 2 160086299 [A/T] NM_001145909,NM_033394 TANC1,TANC1 EXON Silent,Missense_F1454L exm235159 2 160086300 [T/C] NM_001145909,NM_033394 TANC1,TANC1 EXON Silent,Missense_H1455Y exm235170 2 160086640 [T/G] NM_001145909,NM_033394 TANC1,TANC1 EXON Silent,Missense_G1568V exm235171 2 160086649 [T/C] NM_001145909,NM_033394 TANC1,TANC1 EXON Silent,Missense_A1571V exm235173 2 160086654 [A/G] NM_001145909,NM_033394 TANC1,TANC1 EXON Silent,Missense_T1573A exm235184 2 160086793 [A/C] NM_001145909,NM_033394 TANC1,TANC1 EXON Silent,Missense_P1619H exm235191 2 160086961 [T/C] NM_001145909,NM_033394 TANC1,TANC1 EXON Silent,Missense_M1675T exm235200 2 160087099 [T/C] NM_001145909,NM_033394 TANC1,TANC1 EXON Silent,Missense_T1721M exm235216 2 160087410 [T/C] NM_001145909,NM_033394 TANC1,TANC1 EXON Silent,Missense_H1825Y exm235219 2 160087449 [A/G] NM_001145909,NM_033394 TANC1,TANC1 EXON Silent,Missense_I1838V exm235231 2 160092692 [A/G] NM_001128213,NM_152528,NM_001128212 WDSUB1,WDSUB1,WDSUB1 EXON Missense_S428L,Missense_S428L,Missense_S428L exm235240 2 160104975 [T/C] NM_001128213,NM_152528,NM_001128212 WDSUB1,WDSUB1,WDSUB1 EXON Missense_R394K,Missense_R394K,Missense_R394K exm235241 2 160104988 [T/C] NM_001128213,NM_152528,NM_001128212 WDSUB1,WDSUB1,WDSUB1 EXON Missense_I390V,Missense_I390V,Missense_I390V exm235244 2 160112808 [T/C] NM_001128213,NM_152528,NM_001128212 WDSUB1,WDSUB1,WDSUB1 EXON Missense_Q344R,Missense_Q344R,Missense_Q344R exm1987549 2 160112856 [A/G] NM_001128213,NM_152528,NM_001128212 WDSUB1,WDSUB1,WDSUB1 EXON Missense_F328S,Missense_F328S,Missense_F328S exm235247 2 160112881 [T/G] NM_001128213,NM_152528,NM_001128212 WDSUB1,WDSUB1,WDSUB1 EXON Missense_R320S,Missense_R320S,Missense_R320S exm235251 2 160114308 [T/C] NM_001128213,NM_152528,NM_001128212 WDSUB1,WDSUB1,WDSUB1 EXON Missense_V305M,Missense_V305M,Missense_V305M exm235265 2 160128306 [A/C] NM_001128213,NM_152528,NM_001128212 WDSUB1,WDSUB1,WDSUB1 EXON Missense_G226V,Missense_G226V,Missense_G226V exm235268 2 160132089 [T/G] NM_001128213,NM_152528,NM_001128212 WDSUB1,WDSUB1,WDSUB1 EXON Missense_K215T,Missense_K215T,Missense_K215T exm235269 2 160132122 [T/C] NM_001128213,NM_152528,NM_001128212 WDSUB1,WDSUB1,WDSUB1 EXON Missense_R204Q,Missense_R204Q,Missense_R204Q exm235271 2 160132137 [T/C] NM_001128213,NM_152528,NM_001128212 WDSUB1,WDSUB1,WDSUB1 EXON Missense_G199D,Missense_G199D,Missense_G199D exm235274 2 160136337 [A/G] NM_001128213,NM_152528,NM_001128212 WDSUB1,WDSUB1,WDSUB1 EXON Missense_P173L,Missense_P173L,Missense_P173L exm235278 2 160136458 [T/C] NM_001128213,NM_152528,NM_001128212 WDSUB1,WDSUB1,WDSUB1 Silent,Silent,Silent exm235279 2 160139222 [T/G] NM_001128213,NM_152528,NM_001128212 WDSUB1,WDSUB1,WDSUB1 EXON Missense_T120N,Missense_T120N,Missense_T120N exm235290 2 160139481 [T/C] NM_001128213,NM_152528,NM_001128212 WDSUB1,WDSUB1,WDSUB1 EXON Missense_I34V,Missense_I34V,Missense_I34V exm1987565 2 160181398 [A/G] NM_013450 BAZ2B EXON Missense_L2093F exm235303 2 160182302 [T/C] NM_013450 BAZ2B EXON Missense_S2024N exm235309 2 160182374 [T/C] NM_013450 BAZ2B EXON Missense_N2000S exm-rs4665058 2 160190209 [A/C] NM_013450 BAZ2B Silent exm235319 2 160194094 [A/G] NM_013450 BAZ2B EXON Missense_R1882W exm235324 2 160194206 [C/G] NM_013450 BAZ2B EXON Missense_C1844W exm235325 2 160204038 [T/C] NM_013450 BAZ2B EXON Missense_D1805N exm235329 2 160204118 [A/G] NM_013450 BAZ2B EXON Missense_V1778A exm235338 2 160205691 [C/G] NM_013450 BAZ2B EXON Missense_G1655A exm235342 2 160205779 [C/G] NM_013450 BAZ2B EXON Missense_V1626L exm235350 2 160206448 [T/C] NM_013450 BAZ2B EXON Missense_N1545S exm235357 2 160206551 [T/C] NM_013450 BAZ2B EXON Missense_V1511I exm235358 2 160206574 [T/C] NM_013450 BAZ2B EXON Missense_S1503N exm235369 2 160231240 [T/C] NM_013450 BAZ2B EXON Missense_V1344I exm235373 2 160239116 [A/T] NM_013450 BAZ2B EXON Missense_D1320V exm235379 2 160239267 [T/C] NM_013450 BAZ2B EXON Missense_G1270S exm235390 2 160241834 [T/C] NM_013450 BAZ2B EXON Missense_R1173Q exm235394 2 160242917 [A/C] NM_013450 BAZ2B EXON Missense_V1140L exm235395 2 160243100 [A/G] NM_013450 BAZ2B EXON Missense_R1079C exm235399 2 160252332 [T/C] NM_013450 BAZ2B EXON Missense_R1008K exm235414 2 160261565 [A/G] NM_013450 BAZ2B EXON Missense_A913V exm235418 2 160268912 [A/T] NM_013450 BAZ2B EXON Missense_N871Y exm235421 2 160268992 [T/C] NM_013450 BAZ2B EXON Missense_R844H exm235434 2 160284908 [T/C] NM_013450 BAZ2B EXON Missense_R760G exm235438 2 160287443 [A/C] NM_013450 BAZ2B EXON Missense_C709G exm2236444 2 160287463 [A/C] NM_013450 BAZ2B EXON Missense_G702V exm235445 2 160289311 [A/C] NM_013450 BAZ2B EXON Missense_D619E exm235448 2 160289396 [A/C] NM_013450 BAZ2B EXON Missense_F591C exm235449 2 160289399 [T/G] NM_013450 BAZ2B EXON Missense_Q590P exm235452 2 160289517 [T/C] NM_013450 BAZ2B EXON Missense_V551I exm235453 2 160289538 [T/C] NM_013450 BAZ2B EXON Missense_T544A exm235456 2 160289579 [A/G] NM_013450 BAZ2B EXON Missense_P530L exm2273830 2 160289669 [G/C] NM_013450 BAZ2B EXON Missense_S500T exm235461 2 160289730 [T/G] NM_013450 BAZ2B EXON Missense_P480T exm235465 2 160289816 [A/T] NM_013450 BAZ2B EXON Missense_L451Q exm235476 2 160294842 [A/G] NM_013450 BAZ2B EXON Missense_L422S exm235478 2 160294907 [T/G] NM_013450 BAZ2B EXON Missense_K400N exm235489 2 160295130 [T/G] NM_013450 BAZ2B EXON Missense_H326P exm235499 2 160303360 [T/C] NM_013450 BAZ2B EXON Missense_R210Q exm235517 2 160304854 [A/G] NM_013450 BAZ2B EXON Missense_L134P exm235519 2 160304905 [T/C] NM_013450 BAZ2B EXON Missense_R117Q exm235522 2 160310246 [A/G] NM_013450 BAZ2B EXON Missense_M71T exm-rs1425046 2 160374182 [A/C] NM_013450 BAZ2B Silent exm1987657 2 160585568 [T/C] NM_022826 MARCH7 EXON Missense_I12T exm235533 2 160585617 [A/C] NM_022826 MARCH7 EXON Missense_S28R exm235540 2 160599594 [T/C] NM_022826 MARCH7 EXON Missense_A59V exm235556 2 160602359 [A/G] NM_022826 MARCH7 EXON Missense_E142G exm235561 2 160604372 [A/G] NM_022826 MARCH7 EXON Missense_M191V exm235562 2 160604379 [T/C] NM_022826 MARCH7 EXON Missense_T193I exm235563 2 160604391 [A/G] NM_022826 MARCH7 EXON Missense_N197S exm235570 2 160604514 [T/C] NM_022826 MARCH7 EXON Missense_T238M exm235572 2 160604541 [A/G] NM_022826 MARCH7 EXON Missense_S247N exm235574 2 160604568 [A/G] NM_022826 MARCH7 EXON Missense_N256S exm235583 2 160604768 [A/G] NM_022826 MARCH7 EXON Missense_A323T exm235584 2 160604781 [A/G] NM_022826 MARCH7 EXON Missense_R327H exm235586 2 160604889 [A/G] NM_022826 MARCH7 EXON Missense_N363S exm235591 2 160604936 [A/G] NM_022826 MARCH7 EXON Missense_G379S exm235595 2 160605009 [G/C] NM_022826 MARCH7 EXON Missense_R403P exm235608 2 160605272 [C/G] NM_022826 MARCH7 EXON Missense_A491P exm235610 2 160605293 [A/G] NM_022826 MARCH7 EXON Missense_D498N exm235618 2 160621167 [T/C] NM_022826 MARCH7 EXON Missense_H680Y exm235622 2 160628427 [G/C] NM_001198760,NM_001198764,NM_001198763,NM_001198759,NM_014880 LY75-CD302,CD302,CD302,LY75-CD302,CD302 EXON Missense_P1797A,Missense_P175A,Missense_P154A,Missense_P1853A,Missense_P212A exm235625 2 160628463 [T/G] NM_001198760,NM_001198764,NM_001198763,NM_001198759,NM_014880 LY75-CD302,CD302,CD302,LY75-CD302,CD302 EXON Missense_R1785S,Missense_R163S,Missense_R142S,Missense_R1841S,Missense_R200S exm2236449 2 160636630 [T/C] NM_001198760,NM_001198764,NM_001198763,NM_001198759,NM_014880 LY75-CD302,CD302,CD302,LY75-CD302,CD302 EXON Missense_D1704N,Missense_D82N,Silent,Missense_D1760N,Missense_D119N exm2236450 2 160636636 [A/C] NM_001198760,NM_001198764,NM_001198763,NM_001198759,NM_014880 LY75-CD302,CD302,CD302,LY75-CD302,CD302 EXON Missense_D1702Y,Missense_D80Y,Silent,Missense_D1758Y,Missense_D117Y exm235649 2 160661610 [C/G] NM_001198760,NM_001198759,NM_002349 LY75-CD302,LY75-CD302,LY75 EXON Silent,Silent,Missense_R1705P exm2273831 2 160663522 [T/C] NM_001198760,NM_001198759,NM_002349 LY75-CD302,LY75-CD302,LY75 EXON Silent,Missense_E1651G,Missense_E1651G exm235655 2 160663533 [T/G] NM_001198760,NM_001198759,NM_002349 LY75-CD302,LY75-CD302,LY75 EXON Silent,Missense_K1647N,Missense_K1647N exm235656 2 160663568 [T/C] NM_001198760,NM_001198759,NM_002349 LY75-CD302,LY75-CD302,LY75 EXON Silent,Missense_S1636G,Missense_S1636G exm235671 2 160667124 [A/G] NM_001198760,NM_001198759,NM_002349 LY75-CD302,LY75-CD302,LY75 EXON Missense_R1538W,Missense_R1538W,Missense_R1538W exm2269162 2 160668661 [T/G] NM_001198760,NM_001198759,NM_002349 LY75-CD302,LY75-CD302,LY75 Silent,Silent,Silent exm235676 2 160672078 [C/G] NM_001198760,NM_001198759,NM_002349 LY75-CD302,LY75-CD302,LY75 EXON Missense_E1463Q,Missense_E1463Q,Missense_E1463Q exm235679 2 160673358 [A/G] NM_001198760,NM_001198759,NM_002349 LY75-CD302,LY75-CD302,LY75 EXON Missense_R1447C,Missense_R1447C,Missense_R1447C exm235684 2 160673519 [A/G] NM_001198760,NM_001198759,NM_002349 LY75-CD302,LY75-CD302,LY75 EXON Missense_T1393I,Missense_T1393I,Missense_T1393I exm235685 2 160673526 [A/G] NM_001198760,NM_001198759,NM_002349 LY75-CD302,LY75-CD302,LY75 EXON Missense_Y1391H,Missense_Y1391H,Missense_Y1391H exm235690 2 160676350 [T/C] NM_001198760,NM_001198759,NM_002349 LY75-CD302,LY75-CD302,LY75 EXON Missense_K1347R,Missense_K1347R,Missense_K1347R exm235692 2 160676427 [A/C] NM_001198760,NM_001198759,NM_002349 LY75-CD302,LY75-CD302,LY75 EXON Missense_K1321N,Missense_K1321N,Missense_K1321N exm235693 2 160676431 [T/C] NM_001198760,NM_001198759,NM_002349 LY75-CD302,LY75-CD302,LY75 EXON Missense_N1320S,Missense_N1320S,Missense_N1320S exm235697 2 160688217 [T/C] NM_001198760,NM_001198759,NM_002349 LY75-CD302,LY75-CD302,LY75 EXON Missense_M1308V,Missense_M1308V,Missense_M1308V exm235708 2 160690656 [A/G] NM_001198760,NM_001198759,NM_002349 LY75-CD302,LY75-CD302,LY75 EXON Missense_P1247L,Missense_P1247L,Missense_P1247L exm235711 2 160690690 [T/C] NM_001198760,NM_001198759,NM_002349 LY75-CD302,LY75-CD302,LY75 EXON Missense_S1236G,Missense_S1236G,Missense_S1236G exm235712 2 160690705 [T/C] NM_001198760,NM_001198759,NM_002349 LY75-CD302,LY75-CD302,LY75 EXON Missense_V1231I,Missense_V1231I,Missense_V1231I exm235721 2 160692117 [A/G] NM_001198760,NM_001198759,NM_002349 LY75-CD302,LY75-CD302,LY75 EXON Missense_H1183Y,Missense_H1183Y,Missense_H1183Y exm2269339 2 160692761 [T/C] NM_001198760,NM_001198759,NM_002349 LY75-CD302,LY75-CD302,LY75 Silent,Silent,Silent exm235725 2 160697271 [A/G] NM_001198760,NM_001198759,NM_002349 LY75-CD302,LY75-CD302,LY75 EXON Missense_S1159F,Missense_S1159F,Missense_S1159F exm235726 2 160697286 [A/G] NM_001198760,NM_001198759,NM_002349 LY75-CD302,LY75-CD302,LY75 EXON Missense_A1154V,Missense_A1154V,Missense_A1154V exm235727 2 160697305 [A/C] NM_001198760,NM_001198759,NM_002349 LY75-CD302,LY75-CD302,LY75 EXON Missense_A1148S,Missense_A1148S,Missense_A1148S exm235738 2 160706544 [A/G] NM_001198760,NM_001198759,NM_002349 LY75-CD302,LY75-CD302,LY75 EXON Missense_Y1033H,Missense_Y1033H,Missense_Y1033H exm235740 2 160706546 [A/G] NM_001198760,NM_001198759,NM_002349 LY75-CD302,LY75-CD302,LY75 EXON Missense_T1032M,Missense_T1032M,Missense_T1032M exm235743 2 160706630 [A/G] NM_001198760,NM_001198759,NM_002349 LY75-CD302,LY75-CD302,LY75 EXON Missense_P1004L,Missense_P1004L,Missense_P1004L exm235744 2 160706642 [A/G] NM_001198760,NM_001198759,NM_002349 LY75-CD302,LY75-CD302,LY75 EXON Missense_T1000I,Missense_T1000I,Missense_T1000I exm235746 2 160706899 [A/G] NM_001198760,NM_001198759,NM_002349 LY75-CD302,LY75-CD302,LY75 EXON Missense_P988L,Missense_P988L,Missense_P988L exm235749 2 160706931 [T/G] NM_001198760,NM_001198759,NM_002349 LY75-CD302,LY75-CD302,LY75 EXON Missense_S977R,Missense_S977R,Missense_S977R exm235750 2 160706957 [T/C] NM_001198760,NM_001198759,NM_002349 LY75-CD302,LY75-CD302,LY75 EXON Missense_V969M,Missense_V969M,Missense_V969M exm235753 2 160708756 [G/C] NM_001198760,NM_001198759,NM_002349 LY75-CD302,LY75-CD302,LY75 EXON Missense_A947P,Missense_A947P,Missense_A947P exm2236453 2 160708774 [A/G] NM_001198760,NM_001198759,NM_002349 LY75-CD302,LY75-CD302,LY75 EXON Missense_Y941H,Missense_Y941H,Missense_Y941H exm235758 2 160709785 [A/G] NM_001198760,NM_001198759,NM_002349 LY75-CD302,LY75-CD302,LY75 EXON Synonymous_I914I,Synonymous_I914I,Synonymous_I914I exm235760 2 160709838 [T/G] NM_001198760,NM_001198759,NM_002349 LY75-CD302,LY75-CD302,LY75 EXON Missense_P897T,Missense_P897T,Missense_P897T exm235763 2 160710153 [T/G] NM_001198760,NM_001198759,NM_002349 LY75-CD302,LY75-CD302,LY75 EXON Missense_D884A,Missense_D884A,Missense_D884A exm235773 2 160710923 [A/G] NM_001198760,NM_001198759,NM_002349 LY75-CD302,LY75-CD302,LY75 EXON Missense_A848V,Missense_A848V,Missense_A848V exm235774 2 160710927 [A/G] NM_001198760,NM_001198759,NM_002349 LY75-CD302,LY75-CD302,LY75 EXON Missense_L847F,Missense_L847F,Missense_L847F exm235779 2 160711044 [A/G] NM_001198760,NM_001198759,NM_002349 LY75-CD302,LY75-CD302,LY75 EXON Missense_R808C,Missense_R808C,Missense_R808C exm235780 2 160711045 [G/C] NM_001198760,NM_001198759,NM_002349 LY75-CD302,LY75-CD302,LY75 EXON Missense_D807E,Missense_D807E,Missense_D807E exm235784 2 160714906 [T/C] NM_001198760,NM_001198759,NM_002349 LY75-CD302,LY75-CD302,LY75 EXON Missense_T784A,Missense_T784A,Missense_T784A exm235786 2 160714958 [T/C] NM_001198760,NM_001198759,NM_002349 LY75-CD302,LY75-CD302,LY75 EXON Nonsense_W766X,Nonsense_W766X,Nonsense_W766X exm235789 2 160714968 [T/C] NM_001198760,NM_001198759,NM_002349 LY75-CD302,LY75-CD302,LY75 EXON Missense_R763Q,Missense_R763Q,Missense_R763Q exm235797 2 160721357 [T/C] NM_001198760,NM_001198759,NM_002349 LY75-CD302,LY75-CD302,LY75 EXON Missense_R731H,Missense_R731H,Missense_R731H exm235804 2 160729005 [T/C] NM_001198760,NM_001198759,NM_002349 LY75-CD302,LY75-CD302,LY75 EXON Missense_D692N,Missense_D692N,Missense_D692N exm235805 2 160729010 [A/T] NM_001198760,NM_001198759,NM_002349 LY75-CD302,LY75-CD302,LY75 EXON Missense_H690L,Missense_H690L,Missense_H690L exm235806 2 160729082 [A/G] NM_001198760,NM_001198759,NM_002349 LY75-CD302,LY75-CD302,LY75 EXON Missense_V666A,Missense_V666A,Missense_V666A exm235829 2 160735174 [T/C] NM_001198760,NM_001198759,NM_002349 LY75-CD302,LY75-CD302,LY75 EXON Missense_G525E,Missense_G525E,Missense_G525E exm235830 2 160735190 [A/C] NM_001198760,NM_001198759,NM_002349 LY75-CD302,LY75-CD302,LY75 EXON Missense_D520Y,Missense_D520Y,Missense_D520Y exm235831 2 160735191 [A/C] NM_001198760,NM_001198759,NM_002349 LY75-CD302,LY75-CD302,LY75 EXON Missense_E519D,Missense_E519D,Missense_E519D exm235833 2 160735775 [T/C] NM_001198760,NM_001198759,NM_002349 LY75-CD302,LY75-CD302,LY75 EXON Missense_D504N,Missense_D504N,Missense_D504N exm235834 2 160735802 [T/C] NM_001198760,NM_001198759,NM_002349 LY75-CD302,LY75-CD302,LY75 EXON Missense_A495T,Missense_A495T,Missense_A495T exm235838 2 160735873 [T/C] NM_001198760,NM_001198759,NM_002349 LY75-CD302,LY75-CD302,LY75 EXON Missense_Q471R,Missense_Q471R,Missense_Q471R exm235845 2 160737622 [A/G] NM_001198760,NM_001198759,NM_002349 LY75-CD302,LY75-CD302,LY75 EXON Missense_T459M,Missense_T459M,Missense_T459M exm235846 2 160737641 [T/C] NM_001198760,NM_001198759,NM_002349 LY75-CD302,LY75-CD302,LY75 EXON Missense_N453D,Missense_N453D,Missense_N453D exm235857 2 160738683 [T/G] NM_001198760,NM_001198759,NM_002349 LY75-CD302,LY75-CD302,LY75 EXON Missense_H400N,Missense_H400N,Missense_H400N exm235864 2 160738803 [A/G] NM_001198760,NM_001198759,NM_002349 LY75-CD302,LY75-CD302,LY75 EXON Missense_R360C,Missense_R360C,Missense_R360C exm235874 2 160743040 [A/T] NM_001198760,NM_001198759,NM_002349 LY75-CD302,LY75-CD302,LY75 EXON Missense_E268D,Missense_E268D,Missense_E268D exm235881 2 160746856 [T/C] NM_001198760,NM_001198759,NM_002349 LY75-CD302,LY75-CD302,LY75 EXON Missense_E224K,Missense_E224K,Missense_E224K exm235884 2 160746886 [T/C] NM_001198760,NM_001198759,NM_002349 LY75-CD302,LY75-CD302,LY75 EXON Missense_N214D,Missense_N214D,Missense_N214D exm235888 2 160750499 [T/C] NM_001198760,NM_001198759,NM_002349 LY75-CD302,LY75-CD302,LY75 EXON Missense_D188G,Missense_D188G,Missense_D188G exm235893 2 160755318 [T/C] NM_001198760,NM_001198759,NM_002349 LY75-CD302,LY75-CD302,LY75 EXON Missense_Y116C,Missense_Y116C,Missense_Y116C exm235895 2 160755340 [T/G] NM_001198760,NM_001198759,NM_002349 LY75-CD302,LY75-CD302,LY75 EXON Missense_K109Q,Missense_K109Q,Missense_K109Q exm235896 2 160755351 [A/G] NM_001198760,NM_001198759,NM_002349 LY75-CD302,LY75-CD302,LY75 EXON Missense_M105T,Missense_M105T,Missense_M105T exm235908 2 160761136 [A/G] NM_001198760,NM_001198759,NM_002349 LY75-CD302,LY75-CD302,LY75 EXON Missense_W20R,Missense_W20R,Missense_W20R exm235909 2 160761171 [C/G] NM_001198760,NM_001198759,NM_002349 LY75-CD302,LY75-CD302,LY75 EXON Missense_P8R,Missense_P8R,Missense_P8R exm235915 2 160798408 [T/C] NM_001195641,NM_007366 PLA2R1,PLA2R1 EXON Missense_G1423S,Missense_G1425S exm235917 2 160798473 [A/G] NM_001195641,NM_007366 PLA2R1,PLA2R1 EXON Missense_V1401A,Missense_V1403A exm235928 2 160801430 [A/T] NM_001195641,NM_007366 PLA2R1,PLA2R1 EXON Nonsense_C1375X,Nonsense_C1377X exm235940 2 160801579 [A/C] NM_001195641,NM_007366 PLA2R1,PLA2R1 EXON Missense_W1326G,Missense_W1328G exm235944 2 160803929 [T/C] NM_001195641,NM_007366,NM_001007267 PLA2R1,PLA2R1,PLA2R1 Silent,Silent,Silent exm235948 2 160804053 [A/G] NM_001195641,NM_007366,NM_001007267 PLA2R1,PLA2R1,PLA2R1 EXON Missense_H1243Y,Missense_H1243Y,Missense_H1243Y exm235951 2 160806159 [T/G] NM_001195641,NM_007366,NM_001007267 PLA2R1,PLA2R1,PLA2R1 EXON Nonsense_C1223X,Nonsense_C1223X,Nonsense_C1223X exm235953 2 160806182 [T/C] NM_001195641,NM_007366,NM_001007267 PLA2R1,PLA2R1,PLA2R1 EXON Missense_G1216R,Missense_G1216R,Missense_G1216R exm235961 2 160807894 [T/C] NM_001195641,NM_007366,NM_001007267 PLA2R1,PLA2R1,PLA2R1 EXON Missense_N1166S,Missense_N1166S,Missense_N1166S exm2273832 2 160807933 [A/G] NM_001195641,NM_007366,NM_001007267 PLA2R1,PLA2R1,PLA2R1 EXON Missense_T1153I,Missense_T1153I,Missense_T1153I exm235968 2 160808075 [T/C] NM_001195641,NM_007366,NM_001007267 PLA2R1,PLA2R1,PLA2R1 EXON Missense_G1106S,Missense_G1106S,Missense_G1106S exm235973 2 160811709 [T/C] NM_001195641,NM_007366,NM_001007267 PLA2R1,PLA2R1,PLA2R1 Silent,Silent,Silent exm235974 2 160812208 [T/C] NM_001195641,NM_007366,NM_001007267 PLA2R1,PLA2R1,PLA2R1 Silent,Silent,Silent exm235980 2 160813107 [T/C] NM_001195641,NM_007366,NM_001007267 PLA2R1,PLA2R1,PLA2R1 EXON Missense_S979N,Missense_S979N,Missense_S979N exm235983 2 160824100 [A/G] NM_001195641,NM_007366,NM_001007267 PLA2R1,PLA2R1,PLA2R1 EXON Missense_P952S,Missense_P952S,Missense_P952S exm235992 2 160826668 [T/C] NM_001195641,NM_007366,NM_001007267 PLA2R1,PLA2R1,PLA2R1 EXON Missense_D884G,Missense_D884G,Missense_D884G exm235993 2 160826674 [A/G] NM_001195641,NM_007366,NM_001007267 PLA2R1,PLA2R1,PLA2R1 EXON Missense_A882V,Missense_A882V,Missense_A882V exm235998 2 160832643 [T/G] NM_001195641,NM_007366,NM_001007267 PLA2R1,PLA2R1,PLA2R1 EXON Missense_H844P,Missense_H844P,Missense_H844P exm236002 2 160832736 [T/C] NM_001195641,NM_007366,NM_001007267 PLA2R1,PLA2R1,PLA2R1 EXON Missense_D813G,Missense_D813G,Missense_D813G exm236007 2 160833213 [A/G] NM_001195641,NM_007366,NM_001007267 PLA2R1,PLA2R1,PLA2R1 EXON Missense_P807L,Missense_P807L,Missense_P807L exm236008 2 160833214 [A/G] NM_001195641,NM_007366,NM_001007267 PLA2R1,PLA2R1,PLA2R1 EXON Missense_P807S,Missense_P807S,Missense_P807S exm236013 2 160833822 [A/G] NM_001195641,NM_007366,NM_001007267 PLA2R1,PLA2R1,PLA2R1 EXON Missense_R792C,Missense_R792C,Missense_R792C exm236024 2 160840584 [A/C] NM_001195641,NM_007366,NM_001007267 PLA2R1,PLA2R1,PLA2R1 EXON Missense_V680L,Missense_V680L,Missense_V680L exm236030 2 160843710 [T/C] NM_001195641,NM_007366,NM_001007267 PLA2R1,PLA2R1,PLA2R1 EXON Missense_Y665C,Missense_Y665C,Missense_Y665C exm236032 2 160843747 [G/C] NM_001195641,NM_007366,NM_001007267 PLA2R1,PLA2R1,PLA2R1 EXON Missense_A653P,Missense_A653P,Missense_A653P exm236033 2 160843748 [T/G] NM_001195641,NM_007366,NM_001007267 PLA2R1,PLA2R1,PLA2R1 EXON Missense_K652N,Missense_K652N,Missense_K652N exm236035 2 160843801 [A/G] NM_001195641,NM_007366,NM_001007267 PLA2R1,PLA2R1,PLA2R1 EXON Missense_R635W,Missense_R635W,Missense_R635W exm236036 2 160843813 [T/C] NM_001195641,NM_007366,NM_001007267 PLA2R1,PLA2R1,PLA2R1 EXON Missense_V631M,Missense_V631M,Missense_V631M exm236043 2 160862163 [A/G] NM_001195641,NM_007366,NM_001007267 PLA2R1,PLA2R1,PLA2R1 EXON Missense_R612C,Missense_R612C,Missense_R612C exm236045 2 160862183 [T/G] NM_001195641,NM_007366,NM_001007267 PLA2R1,PLA2R1,PLA2R1 EXON Missense_H605P,Missense_H605P,Missense_H605P exm236050 2 160862240 [A/G] NM_001195641,NM_007366,NM_001007267 PLA2R1,PLA2R1,PLA2R1 EXON Missense_T586M,Missense_T586M,Missense_T586M exm236060 2 160873166 [T/C] NM_001195641,NM_007366,NM_001007267 PLA2R1,PLA2R1,PLA2R1 EXON Missense_A504T,Missense_A504T,Missense_A504T exm236061 2 160873174 [A/C] NM_001195641,NM_007366,NM_001007267 PLA2R1,PLA2R1,PLA2R1 EXON Missense_C501F,Missense_C501F,Missense_C501F exm236069 2 160876769 [T/C] NM_001195641,NM_007366,NM_001007267 PLA2R1,PLA2R1,PLA2R1 EXON Missense_A434T,Missense_A434T,Missense_A434T exm236070 2 160876771 [T/C] NM_001195641,NM_007366,NM_001007267 PLA2R1,PLA2R1,PLA2R1 EXON Missense_N433S,Missense_N433S,Missense_N433S exm236072 2 160879259 [T/C] NM_001195641,NM_007366,NM_001007267 PLA2R1,PLA2R1,PLA2R1 EXON Missense_R404H,Missense_R404H,Missense_R404H exm236073 2 160879311 [A/G] NM_001195641,NM_007366,NM_001007267 PLA2R1,PLA2R1,PLA2R1 EXON Missense_R387C,Missense_R387C,Missense_R387C exm236078 2 160879361 [T/G] NM_001195641,NM_007366,NM_001007267 PLA2R1,PLA2R1,PLA2R1 EXON Missense_A370E,Missense_A370E,Missense_A370E exm236089 2 160885418 [G/C] NM_001195641,NM_007366,NM_001007267 PLA2R1,PLA2R1,PLA2R1 EXON Missense_H300D,Missense_H300D,Missense_H300D exm236090 2 160885432 [T/C] NM_001195641,NM_007366,NM_001007267 PLA2R1,PLA2R1,PLA2R1 EXON Missense_N295S,Missense_N295S,Missense_N295S exm236094 2 160885442 [T/C] NM_001195641,NM_007366,NM_001007267 PLA2R1,PLA2R1,PLA2R1 EXON Missense_M292V,Missense_M292V,Missense_M292V exm1987868 2 160885457 [T/A] NM_001195641,NM_007366,NM_001007267 PLA2R1,PLA2R1,PLA2R1 EXON Missense_T287S,Missense_T287S,Missense_T287S exm236096 2 160885465 [T/C] NM_001195641,NM_007366,NM_001007267 PLA2R1,PLA2R1,PLA2R1 EXON Missense_S284N,Missense_S284N,Missense_S284N exm236098 2 160889476 [T/C] NM_001195641,NM_007366,NM_001007267 PLA2R1,PLA2R1,PLA2R1 EXON Missense_I279V,Missense_I279V,Missense_I279V exm1987871 2 160889514 [A/G] NM_001195641,NM_007366,NM_001007267 PLA2R1,PLA2R1,PLA2R1 EXON Missense_T266M,Missense_T266M,Missense_T266M exm236102 2 160889598 [T/C] NM_001195641,NM_007366,NM_001007267 PLA2R1,PLA2R1,PLA2R1 EXON Missense_N238S,Missense_N238S,Missense_N238S exm236106 2 160898583 [T/G] NM_001195641,NM_007366,NM_001007267 PLA2R1,PLA2R1,PLA2R1 EXON Missense_T207K,Missense_T207K,Missense_T207K exm236108 2 160898605 [A/C] NM_001195641,NM_007366,NM_001007267 PLA2R1,PLA2R1,PLA2R1 EXON Missense_D200Y,Missense_D200Y,Missense_D200Y exm236110 2 160898637 [T/C] NM_001195641,NM_007366,NM_001007267 PLA2R1,PLA2R1,PLA2R1 EXON Missense_H189R,Missense_H189R,Missense_H189R exm236111 2 160898643 [T/C] NM_001195641,NM_007366,NM_001007267 PLA2R1,PLA2R1,PLA2R1 EXON Missense_Q187R,Missense_Q187R,Missense_Q187R exm236114 2 160898674 [A/G] NM_001195641,NM_007366,NM_001007267 PLA2R1,PLA2R1,PLA2R1 EXON Missense_P177S,Missense_P177S,Missense_P177S exm236119 2 160901353 [T/C] NM_001195641,NM_007366,NM_001007267 PLA2R1,PLA2R1,PLA2R1 EXON Missense_R142Q,Missense_R142Q,Missense_R142Q exm236133 2 160901516 [T/C] NM_001195641,NM_007366,NM_001007267 PLA2R1,PLA2R1,PLA2R1 EXON Missense_G88S,Missense_G88S,Missense_G88S exm-rs4664308 2 160917497 [A/G] NM_001195641,NM_007366,NM_001007267 PLA2R1,PLA2R1,PLA2R1 Silent,Silent,Silent exm2265363 2 160957846 [A/G] exm1987885 2 160958347 [T/G] NM_000888 ITGB6 Silent exm236156 2 160964191 [A/G] NM_000888 ITGB6 EXON Missense_T756M exm236158 2 160964288 [C/G] NM_000888 ITGB6 EXON Missense_V724L exm236166 2 160980322 [A/G] NM_000888 ITGB6 EXON Missense_A654V exm236171 2 160982891 [A/G] NM_000888 ITGB6 EXON Missense_R628W exm236172 2 160982926 [C/G] NM_000888 ITGB6 EXON Missense_R616P exm236174 2 160982996 [T/C] NM_000888 ITGB6 EXON Missense_G593R exm236181 2 160983104 [A/C] NM_000888 ITGB6 EXON Missense_D557Y exm1987898 2 160993954 [A/G] NM_000888 ITGB6 EXON Missense_L551F exm236185 2 160993972 [T/C] NM_000888 ITGB6 EXON Missense_V545M exm236189 2 160994068 [T/C] NM_000888 ITGB6 EXON Missense_G513R exm236199 2 160994197 [T/C] NM_000888 ITGB6 EXON Missense_G470R exm236200 2 160994200 [T/G] NM_000888 ITGB6 EXON Missense_H469N exm236204 2 160994293 [T/C] NM_000888 ITGB6 EXON Missense_V438M exm236205 2 160994306 [A/C] NM_000888 ITGB6 EXON Missense_I433M exm236206 2 160994341 [T/C] NM_000888 ITGB6 EXON Missense_N422D exm236216 2 160998570 [A/G] NM_000888 ITGB6 EXON Missense_L344F exm236218 2 160998581 [T/G] NM_000888 ITGB6 EXON Missense_N340T exm236235 2 161030526 [T/C] NM_000888 ITGB6 EXON Missense_E240K exm236255 2 161052759 [A/G] NM_000888 ITGB6 EXON Missense_A105V exm236262 2 161052906 [T/C] NM_000888 ITGB6 EXON Missense_G56D exm236273 2 161056531 [T/C] NM_000888 ITGB6 EXON Missense_R15K exm236289 2 161135148 [T/C] NM_016836,NM_002897 RBMS1,RBMS1 EXON Missense_M325V,Missense_M322V exm-rs7593730 2 161171454 [T/C] NM_016836,NM_002897 RBMS1,RBMS1 Silent,Silent exm2265227 2 161281691 [A/G] NM_016836,NM_002897 RBMS1,RBMS1 Silent,Silent exm-rs10192369 2 161380888 [A/G] exm2269163 2 161694980 [T/C] exm-rs997163 2 161767905 [A/G] exm2265364 2 161991197 [A/G] exm236345 2 162061198 [T/G] NM_004180,NM_133484,NM_001199135 TANK,TANK,TANK EXON Missense_G74V,Missense_G74V,Missense_G74V exm236350 2 162061258 [A/C] NM_004180,NM_133484,NM_001199135 TANK,TANK,TANK EXON Missense_P94Q,Missense_P94Q,Missense_P94Q exm236352 2 162061302 [A/G] NM_004180,NM_133484,NM_001199135 TANK,TANK,TANK EXON Missense_K109E,Missense_K109E,Missense_K109E exm236355 2 162080435 [G/C] NM_004180,NM_001199135 TANK,TANK EXON Missense_Q113E,Missense_Q113E exm236362 2 162081199 [A/G] NM_004180,NM_001199135 TANK,TANK EXON Missense_M154I,Missense_M154I exm236377 2 162087835 [A/G] NM_004180,NM_001199135 TANK,TANK EXON Missense_G292R,Missense_G292R exm236379 2 162087859 [A/G] NM_004180,NM_001199135 TANK,TANK EXON Missense_I300V,Missense_I300V exm236380 2 162087863 [A/G] NM_004180,NM_001199135 TANK,TANK EXON Missense_Q301R,Missense_Q301R exm236385 2 162088034 [T/C] NM_004180,NM_001199135 TANK,TANK EXON Missense_P358L,Missense_P358L exm236392 2 162091931 [C/G] NM_004180,NM_001199135 TANK,TANK EXON Missense_R394G,Missense_R394G exm236393 2 162091932 [A/G] NM_004180,NM_001199135 TANK,TANK EXON Missense_R394Q,Missense_R394Q exm236422 2 162273177 [T/G] NM_006593 TBR1 EXON Missense_V86F exm236428 2 162273438 [A/G] NM_006593 TBR1 EXON Missense_G173S exm236443 2 162275499 [A/G] NM_006593 TBR1 EXON Missense_V356M exm2269164 2 162276981 [T/C] NM_006593 TBR1 Silent exm236466 2 162280621 [A/C] NM_006593 TBR1 EXON Missense_D644E exm236469 2 162280727 [A/T] NM_006593 TBR1 EXON Missense_S680T exm236488 2 162696401 [A/G] NM_022058,NM_001178016,NM_001178015 SLC4A10,SLC4A10,SLC4A10 EXON Missense_R127H,Missense_R138H,Missense_R127H exm236524 2 162761304 [T/G] NM_022058,NM_001178016,NM_001178015 SLC4A10,SLC4A10,SLC4A10 EXON Missense_F516V,Missense_F527V,Missense_F546V exm2254740 2 162762296 [T/C] NM_022058,NM_001178016,NM_001178015 SLC4A10,SLC4A10,SLC4A10 EXON Synonymous_I602I,Synonymous_I613I,Synonymous_I632I exm236531 2 162799327 [A/C] NM_022058,NM_001178016,NM_001178015 SLC4A10,SLC4A10,SLC4A10 EXON Missense_P645T,Missense_P656T,Missense_P675T exm236561 2 162830765 [G/C] NM_022058,NM_001178016,NM_001178015 SLC4A10,SLC4A10,SLC4A10 EXON Missense_Q1026E,Missense_Q1037E,Missense_Q1056E exm236566 2 162830822 [T/A] NM_022058,NM_001178016,NM_001178015 SLC4A10,SLC4A10,SLC4A10 EXON Missense_Y1045N,Missense_Y1056N,Missense_Y1075N exm236575 2 162849809 [G/C] NM_001935 DPP4 EXON Missense_C762S exm236579 2 162849892 [A/C] NM_001935 DPP4 EXON Missense_W734C exm236586 2 162851876 [T/C] NM_001935 DPP4 EXON Missense_T687A exm236608 2 162873646 [T/A] NM_001935 DPP4 EXON Nonsense_Y480X exm236611 2 162875349 [G/C] NM_001935 DPP4 EXON Missense_S437T exm236621 2 162879306 [A/G] NM_001935 DPP4 EXON Missense_R343W exm236632 2 162890108 [G/C] NM_001935 DPP4 EXON Missense_S277T exm236633 2 162890142 [T/C] NM_001935 DPP4 EXON Missense_V266I exm236655 2 162902047 [T/C] NM_001935 DPP4 EXON Missense_V121M exm236662 2 162903426 [A/G] NM_001935 DPP4 EXON Missense_F95S exm236669 2 162903987 [T/C] NM_001935 DPP4 EXON Missense_R40H exm236671 2 162904013 [T/C] NM_001935 DPP4 Silent exm-rs2270447 2 162959748 [T/C] exm236678 2 163000556 [T/G] NM_002054 GCG EXON Missense_Q173K exm236680 2 163000583 [T/C] NM_002054 GCG EXON Missense_A164T exm236681 2 163000601 [T/C] NM_002054 GCG EXON Missense_I158V exm236683 2 163000664 [T/C] NM_002054 GCG EXON Missense_A137T exm236686 2 163002170 [T/C] NM_002054 GCG EXON Missense_R91H exm236714 2 163030296 [T/C] NM_004460 FAP EXON Synonymous_A657A exm236717 2 163031377 [T/C] NM_004460 FAP EXON Missense_A657T exm236718 2 163031378 [A/G] NM_004460 FAP EXON Synonymous_Y656Y exm236733 2 163044806 [T/C] NM_004460 FAP EXON Missense_S563G exm236739 2 163045656 [A/G] NM_004460 FAP EXON Missense_P526S exm236755 2 163055344 [T/C] NM_004460 FAP EXON Missense_H442R exm236760 2 163057129 [T/C] NM_004460 FAP EXON Synonymous_L408L exm236763 2 163059592 [T/C] NM_004460 FAP EXON Missense_K371E exm236785 2 163072493 [T/C] NM_004460 FAP EXON Missense_V261I exm2236473 2 163074533 [T/G] NM_004460 FAP EXON Missense_E242A exm236789 2 163074554 [A/G] NM_004460 FAP EXON Missense_A235V exm236790 2 163074572 [A/G] NM_004460 FAP EXON Missense_T229M exm236792 2 163074624 [A/G] NM_004460 FAP EXON Missense_L212F exm236797 2 163075627 [A/G] NM_004460 FAP EXON Missense_F185L exm236805 2 163080161 [A/G] NM_004460 FAP EXON Missense_Y124H exm236810 2 163082046 [T/G] NM_004460 FAP EXON Missense_L78I exm236818 2 163099471 [A/G] NM_004460 FAP EXON Missense_T13I exm236819 2 163099483 [A/G] NM_004460 FAP EXON Missense_F9S exm236824 2 163123826 [A/C] NM_022168 IFIH1 EXON Missense_V988L exm236830 2 163123994 [T/C] NM_022168 IFIH1 EXON Missense_G965S exm236832 2 163124024 [C/G] NM_022168 IFIH1 EXON Missense_Q955E exm236833 2 163124026 [T/C] NM_022168 IFIH1 EXON Missense_Y954C exm236837 2 163124051 [T/C] NM_022168 IFIH1 EXON Missense_A946T exm236840 2 163124596 [T/C] NM_022168 IFIH1 Silent exm236843 2 163124619 [T/C] NM_022168 IFIH1 EXON Missense_V929I exm236845 2 163124637 [T/C] NM_022168 IFIH1 EXON Missense_I923V exm236852 2 163128755 [A/G] NM_022168 IFIH1 EXON Missense_P866L exm236856 2 163128824 [T/C] NM_022168 IFIH1 EXON Missense_H843R exm236857 2 163128828 [T/C] NM_022168 IFIH1 EXON Missense_E842K exm236862 2 163128893 [T/C] NM_022168 IFIH1 EXON Missense_R820H exm236863 2 163128896 [T/G] NM_022168 IFIH1 EXON Missense_A819D exm236872 2 163130397 [T/C] NM_022168 IFIH1 EXON Missense_A788T exm236879 2 163133262 [T/C] NM_022168 IFIH1 EXON Missense_V747I exm236884 2 163133319 [A/G] NM_022168 IFIH1 EXON Nonsense_R728X exm1988220 2 163133386 [T/G] NM_022168 IFIH1 EXON Missense_R705S exm236889 2 163133396 [A/G] NM_022168 IFIH1 EXON Missense_T702I exm236892 2 163133926 [A/G] NM_022168 IFIH1 EXON Synonymous_F681F exm236898 2 163134004 [T/A] NM_022168 IFIH1 EXON Missense_D655E exm236907 2 163134090 [A/C] NM_022168 IFIH1 EXON Nonsense_E627X exm236915 2 163134186 [T/G] NM_022168 IFIH1 EXON Missense_R595S exm236916 2 163134203 [T/G] NM_022168 IFIH1 EXON Missense_A589D exm236920 2 163134757 [T/C] NM_022168 IFIH1 EXON Missense_T575A exm236925 2 163136505 [C/G] NM_022168 IFIH1 Silent exm236927 2 163136564 [A/C] NM_022168 IFIH1 EXON Missense_L528R exm236928 2 163136589 [T/C] NM_022168 IFIH1 EXON Missense_T520A exm236933 2 163137881 [A/C] NM_022168 IFIH1 EXON Missense_G494V exm236936 2 163137983 [T/C] NM_022168 IFIH1 EXON Missense_H460R exm236939 2 163138050 [A/G] NM_022168 IFIH1 EXON Missense_S438P exm236943 2 163138960 [T/C] NM_022168 IFIH1 EXON Missense_D408N exm236946 2 163139030 [T/C] NM_022168 IFIH1 EXON Nonsense_W384X exm236949 2 163139061 [T/C] NM_022168 IFIH1 EXON Missense_R374H exm236950 2 163139085 [A/T] NM_022168 IFIH1 EXON Missense_V366E exm236952 2 163144647 [T/C] NM_022168 IFIH1 EXON Missense_K365E exm236953 2 163144674 [T/G] NM_022168 IFIH1 EXON Missense_P356T exm236957 2 163144791 [A/G] NM_022168 IFIH1 EXON Nonsense_Q317X exm236970 2 163167419 [T/C] NM_022168 IFIH1 EXON Missense_N160D exm236973 2 163167444 [A/C] NM_022168 IFIH1 Silent exm236974 2 163174373 [T/C] NM_022168 IFIH1 EXON Missense_R149G exm236975 2 163174382 [T/C] NM_022168 IFIH1 EXON Missense_I146V exm236991 2 163174589 [A/G] NM_022168 IFIH1 EXON Missense_R77W exm237013 2 163208877 [T/G] NM_012198 GCA EXON Missense_Q74H exm237014 2 163208893 [T/G] NM_012198 GCA EXON Missense_S80A exm2263956 2 163215423 [A/C] NM_012198 GCA Silent exm237032 2 163215601 [A/G] NM_012198 GCA EXON Missense_S168G exm237036 2 163215655 [T/C] NM_012198 GCA EXON Nonsense_R186X exm-IND2-162925519 2 163217274 [I/D] NM_012198 GCA EXON exm237043 2 163228386 [T/C] NM_033272 KCNH7 EXON Missense_V1182M exm237050 2 163228587 [A/G] NM_033272 KCNH7 EXON Missense_L1115F exm237053 2 163230011 [T/C] NM_033272 KCNH7 EXON Missense_K1098R exm237063 2 163236451 [T/C] NM_033272 KCNH7 EXON Missense_A1015T exm237065 2 163236530 [A/G] NM_033272 KCNH7 EXON Synonymous_D988D exm2254744 2 163241247 [G/C] NM_033272 KCNH7 EXON Synonymous_V971V exm237067 2 163241287 [C/G] NM_033272 KCNH7 EXON Missense_G958A exm237072 2 163250969 [T/C] NM_033272 KCNH7 EXON Missense_M880I exm-rs17716942 2 163260691 [T/C] NM_033272 KCNH7 Silent exm237112 2 163302886 [A/G] NM_033272,NM_173162 KCNH7,KCNH7 EXON Missense_T399M,Missense_T392M exm237113 2 163302901 [T/C] NM_033272,NM_173162 KCNH7,KCNH7 EXON Missense_R394H,Missense_R387H exm237118 2 163360961 [T/C] NM_033272,NM_173162 KCNH7,KCNH7 EXON Missense_V374M,Missense_V367M exm237120 2 163360979 [T/G] NM_033272,NM_173162 KCNH7,KCNH7 EXON Missense_H368N,Missense_H361N exm237122 2 163361057 [A/C] NM_033272,NM_173162 KCNH7,KCNH7 EXON Missense_V342F,Missense_V335F exm237124 2 163361158 [T/A] NM_033272,NM_173162 KCNH7,KCNH7 EXON Missense_N308I,Missense_N301I exm237129 2 163374269 [T/C] NM_033272,NM_173162 KCNH7,KCNH7 EXON Missense_N288S,Missense_N288S exm237145 2 163374564 [A/G] NM_033272,NM_173162 KCNH7,KCNH7 EXON Missense_H190Y,Missense_H190Y exm-rs6759814 2 163392761 [T/C] NM_033272,NM_173162 KCNH7,KCNH7 Silent,Silent exm2265229 2 163892135 [A/G] exm2261100 2 164263699 [T/C] exm-rs12476047 2 164317876 [T/C] exm2273362 2 164466032 [T/C] NM_018086 FIGN EXON Silent exm237164 2 164466172 [T/C] NM_018086 FIGN EXON Missense_V724I exm237177 2 164466648 [T/C] NM_018086 FIGN EXON Missense_K565R exm237179 2 164466673 [T/C] NM_018086 FIGN EXON Missense_A557T exm237184 2 164466811 [G/C] NM_018086 FIGN EXON Missense_A511P exm1988369 2 164467296 [T/A] NM_018086 FIGN EXON Missense_Y349F exm237207 2 164467438 [A/G] NM_018086 FIGN EXON Missense_P302S exm237220 2 164467711 [A/G] NM_018086 FIGN EXON Missense_P211S exm237243 2 164468199 [T/C] NM_018086 FIGN EXON Missense_R48H exm2269167 2 164731394 [T/C] exm2254748 2 165047746 [A/G] exm2269341 2 165196500 [T/G] exm237250 2 165349593 [T/C] NM_004490 GRB14 EXON Missense_V526I exm237253 2 165349650 [A/G] NM_004490 GRB14 EXON Missense_H507Y exm237257 2 165350941 [T/C] NM_004490 GRB14 EXON Synonymous_P492P exm237271 2 165353792 [T/C] NM_004490 GRB14 EXON Missense_K408R exm237276 2 165353983 [T/A] NM_004490 GRB14 EXON Missense_N374K exm237287 2 165365278 [G/C] NM_004490 GRB14 EXON Missense_P301A exm237300 2 165378614 [G/C] NM_004490 GRB14 EXON Nonsense_S231X exm1988425 2 165381518 [A/G] NM_004490 GRB14 EXON Missense_L225S exm237301 2 165381542 [A/C] NM_004490 GRB14 EXON Missense_G217V exm237305 2 165383526 [T/C] NM_004490 GRB14 EXON Missense_M201V exm237317 2 165404220 [A/G] NM_004490 GRB14 EXON Missense_I144T exm237318 2 165404259 [C/G] NM_004490 GRB14 EXON Missense_R131P exm237319 2 165404260 [A/G] NM_004490 GRB14 EXON Nonsense_R131X exm237321 2 165404265 [G/C] NM_004490 GRB14 EXON Missense_T129R exm237325 2 165476253 [A/T] NM_004490 GRB14 EXON Missense_F90I exm-rs10179126 2 165511794 [C/G] exm-rs10195252 2 165513091 [T/C] exm-rs13389219 2 165528876 [T/C] exm-rs12328675 2 165540800 [T/C] exm237354 2 165550870 [A/G] NM_014900 COBLL1 EXON Missense_A1049V exm237355 2 165550888 [T/G] NM_014900 COBLL1 EXON Missense_E1043A exm237356 2 165550904 [A/T] NM_014900 COBLL1 EXON Missense_S1038C exm1988451 2 165551084 [T/C] NM_014900 COBLL1 EXON Missense_G978S exm237359 2 165551103 [T/G] NM_014900 COBLL1 EXON Missense_K971N exm237360 2 165551128 [A/G] NM_014900 COBLL1 EXON Missense_S963F exm237363 2 165551201 [T/C] NM_014900 COBLL1 EXON Missense_N939D exm2273833 2 165551281 [C/G] NM_014900 COBLL1 EXON Missense_R912T exm237372 2 165551404 [A/G] NM_014900 COBLL1 EXON Missense_T871I exm237382 2 165551614 [A/G] NM_014900 COBLL1 EXON Missense_A801V exm237383 2 165551638 [T/C] NM_014900 COBLL1 EXON Missense_Y793C exm237409 2 165552043 [T/C] NM_014900 COBLL1 EXON Missense_H658R exm1988458 2 165552167 [T/C] NM_014900 COBLL1 EXON Missense_N617D exm237424 2 165557069 [T/C] NM_014900 COBLL1 EXON Missense_M514V exm237426 2 165557105 [A/G] NM_014900 COBLL1 EXON Missense_L502F exm237438 2 165559701 [T/C] NM_014900 COBLL1 EXON Missense_E419K exm237450 2 165561557 [A/G] NM_014900 COBLL1 EXON Missense_A352V exm-rs10221833 2 165577164 [G/C] NM_014900 COBLL1 Silent exm237453 2 165578602 [T/C] NM_014900 COBLL1 EXON Missense_V327M exm237456 2 165578629 [T/C] NM_014900 COBLL1 EXON Missense_A318T exm237472 2 165584614 [T/C] NM_014900 COBLL1 EXON Missense_I176V exm237475 2 165584691 [A/G] NM_014900 COBLL1 EXON Missense_V150A exm-IND2-165344412 2 165636167 [D/I] NM_014900 COBLL1 exm2269168 2 165647332 [T/C] NM_014900 COBLL1 Silent exm2265365 2 165741394 [A/G] exm-rs13424957 2 165750390 [T/C] exm237508 2 165755170 [T/G] NM_173512,NM_001199148 SLC38A11,SLC38A11 EXON Missense_P311Q,Missense_P333Q exm237514 2 165765194 [A/C] NM_173512,NM_001199148 SLC38A11,SLC38A11 EXON Missense_V273L,Missense_V295L exm237520 2 165768148 [G/C] NM_173512,NM_001199148 SLC38A11,SLC38A11 EXON Missense_E243Q,Missense_E265Q exm237522 2 165768180 [A/C] NM_173512,NM_001199148 SLC38A11,SLC38A11 EXON Missense_L232W,Missense_L254W exm237523 2 165768225 [T/A] NM_173512,NM_001199148 SLC38A11,SLC38A11 EXON Missense_D217V,Missense_D239V exm237533 2 165793912 [T/C] NM_173512,NM_001199148 SLC38A11,SLC38A11 EXON Missense_T111A,Missense_T133A exm237539 2 165795982 [T/C] NM_173512,NM_001199148 SLC38A11,SLC38A11 EXON Missense_R94Q,Missense_R116Q exm237541 2 165796019 [A/G] NM_173512,NM_001199148 SLC38A11,SLC38A11 EXON Missense_S82P,Missense_S104P exm1988504 2 165802112 [A/G] NM_173512,NM_001199148 SLC38A11,SLC38A11 EXON Missense_P63S,Missense_P63S exm237547 2 165802159 [A/G] NM_173512,NM_001199148 SLC38A11,SLC38A11 EXON Missense_F47S,Missense_F47S exm237552 2 165809268 [T/C] NM_173512,NM_001199148 SLC38A11,SLC38A11 EXON Missense_A4T,Missense_A4T exm-rs776488 2 165890733 [A/C] exm1988512 2 165946820 [T/G] NM_001081677,NM_006922,NM_001081676 SCN3A,SCN3A,SCN3A EXON Missense_K1899T,Missense_K1948T,Missense_K1899T exm237564 2 165946838 [T/C] NM_001081677,NM_006922,NM_001081676 SCN3A,SCN3A,SCN3A EXON Missense_Q1893R,Missense_Q1942R,Missense_Q1893R exm237570 2 165947079 [A/C] NM_001081677,NM_006922,NM_001081676 SCN3A,SCN3A,SCN3A EXON Missense_G1813C,Missense_G1862C,Missense_G1813C exm237645 2 165984284 [T/C] NM_001081677,NM_006922,NM_001081676 SCN3A,SCN3A,SCN3A EXON Missense_V1035I,Missense_V1084I,Missense_V1035I exm237678 2 165996061 [T/C] NM_001081677,NM_006922,NM_001081676 SCN3A,SCN3A,SCN3A EXON Missense_M644V,Missense_M693V,Missense_M644V exm237682 2 165997177 [T/C] NM_001081677,NM_006922,NM_001081676 SCN3A,SCN3A,SCN3A EXON Silent,Missense_G668E,Silent exm237684 2 165997217 [A/G] NM_001081677,NM_006922,NM_001081676 SCN3A,SCN3A,SCN3A EXON Silent,Missense_S655P,Silent exm237693 2 165997493 [A/G] NM_001081677,NM_006922,NM_001081676 SCN3A,SCN3A,SCN3A EXON Missense_R563C,Missense_R563C,Missense_R563C exm237695 2 166003301 [A/G] NM_001081677,NM_006922,NM_001081676 SCN3A,SCN3A,SCN3A EXON Missense_S540F,Missense_S540F,Missense_S540F exm1988563 2 166003318 [T/G] NM_001081677,NM_006922,NM_001081676 SCN3A,SCN3A,SCN3A EXON Missense_R534S,Missense_R534S,Missense_R534S exm237713 2 166012356 [T/G] NM_001081677,NM_006922,NM_001081676 SCN3A,SCN3A,SCN3A EXON Nonsense_Y363X,Nonsense_Y363X,Nonsense_Y363X exm237720 2 166019183 [T/C] NM_001081677,NM_006922,NM_001081676 SCN3A,SCN3A,SCN3A EXON Missense_D284N,Missense_D284N,Missense_D284N exm237729 2 166020944 [T/C] NM_001081677,NM_006922,NM_001081676 SCN3A,SCN3A,SCN3A EXON Missense_R187H,Missense_R187H,Missense_R187H exm237741 2 166032837 [A/G] NM_001081677,NM_006922,NM_001081676 SCN3A,SCN3A,SCN3A EXON Missense_A23V,Missense_A23V,Missense_A23V exm237744 2 166032861 [T/C] NM_001081677,NM_006922,NM_001081676 SCN3A,SCN3A,SCN3A EXON Missense_R15H,Missense_R15H,Missense_R15H exm237748 2 166152389 [A/G] NM_001040142,NM_021007,NM_001040143 SCN2A,SCN2A,SCN2A EXON Missense_R19K,Missense_R19K,Missense_R19K exm237749 2 166152415 [T/C] NM_001040142,NM_021007,NM_001040143 SCN2A,SCN2A,SCN2A EXON Missense_R28C,Missense_R28C,Missense_R28C exm237751 2 166152433 [A/G] NM_001040142,NM_021007,NM_001040143 SCN2A,SCN2A,SCN2A EXON Missense_A34T,Missense_A34T,Missense_A34T exm237798 2 166179835 [T/C] NM_001040142,NM_021007,NM_001040143 SCN2A,SCN2A,SCN2A EXON Missense_P614L,Missense_P614L,Missense_P614L exm237809 2 166183395 [T/C] NM_001040142,NM_021007,NM_001040143 SCN2A,SCN2A,SCN2A EXON Missense_R684W,Missense_R684W,Missense_R684W exm237818 2 166201225 [A/G] NM_001040142,NM_021007,NM_001040143 SCN2A,SCN2A,SCN2A EXON Missense_K908R,Missense_K908R,Missense_K908R exm237836 2 166221710 [A/G] NM_001040142,NM_021007,NM_001040143 SCN2A,SCN2A,SCN2A EXON Missense_E1153K,Missense_E1153K,Missense_E1153K exm237838 2 166221738 [A/T] NM_001040142,NM_021007,NM_001040143 SCN2A,SCN2A,SCN2A EXON Missense_E1162V,Missense_E1162V,Missense_E1162V exm237861 2 166243269 [G/C] NM_001040142,NM_021007,NM_001040143 SCN2A,SCN2A,SCN2A EXON Missense_G1522A,Missense_G1522A,Missense_G1522A exm237877 2 166245524 [T/G] NM_001040142,NM_021007,NM_001040143 SCN2A,SCN2A,SCN2A EXON Missense_D1736E,Missense_D1736E,Missense_D1736E exm237886 2 166245762 [T/G] NM_001040142,NM_021007,NM_001040143 SCN2A,SCN2A,SCN2A EXON Missense_A1816S,Missense_A1816S,Missense_A1816S exm2254753 2 166459298 [T/G] NM_001172173,NM_024969 CSRNP3,CSRNP3 Silent,Silent exm237919 2 166514423 [A/G] NM_001172173,NM_024969 CSRNP3,CSRNP3 EXON Missense_V101M,Missense_V101M exm237949 2 166535615 [C/G] NM_001172173,NM_024969 CSRNP3,CSRNP3 EXON Missense_D370E,Missense_D370E exm237972 2 166536199 [A/C] NM_001172173,NM_024969 CSRNP3,CSRNP3 EXON Missense_A565E,Missense_A565E exm237974 2 166536237 [T/C] NM_001172173,NM_024969 CSRNP3,CSRNP3 EXON Missense_P578S,Missense_P578S exm-rs6710518 2 166583244 [T/C] exm237987 2 166606326 [T/C] NM_004482 GALNT3 EXON Missense_V569I exm237992 2 166611158 [T/A] NM_004482 GALNT3 EXON Nonsense_C535X exm237998 2 166611442 [A/G] NM_004482 GALNT3 EXON Synonymous_Y508Y exm238004 2 166613601 [T/C] NM_004482 GALNT3 EXON Missense_I450V exm238012 2 166615336 [T/C] NM_004482 GALNT3 EXON Missense_K371R exm238018 2 166616018 [T/C] NM_004482 GALNT3 EXON Missense_V301I exm2236488 2 166618448 [T/C] NM_004482 GALNT3 EXON Missense_T269A exm238029 2 166618454 [A/C] NM_004482 GALNT3 EXON Missense_V267F exm238032 2 166618480 [A/C] NM_004482 GALNT3 EXON Missense_I258S exm238034 2 166618535 [C/G] NM_004482 GALNT3 EXON Missense_V240L exm238039 2 166621483 [A/G] NM_004482 GALNT3 EXON Missense_T200M exm238049 2 166626727 [A/G] NM_004482 GALNT3 EXON Nonsense_R162X exm238052 2 166626804 [T/C] NM_004482 GALNT3 EXON Missense_E136G exm1988699 2 166626832 [A/C] NM_004482 GALNT3 EXON Missense_A127S exm238053 2 166626873 [T/C] NM_004482 GALNT3 EXON Missense_R113H exm238054 2 166626918 [A/C] NM_004482 GALNT3 EXON Missense_L98W exm238058 2 166627002 [A/G] NM_004482 GALNT3 EXON Missense_V70A exm238064 2 166627079 [T/C] NM_004482 GALNT3 EXON Synonymous_Q44Q exm238070 2 166731284 [T/C] NM_024753 TTC21B EXON Missense_R1311H exm238071 2 166731285 [A/G] NM_024753 TTC21B EXON Missense_R1311C exm238072 2 166731302 [T/C] NM_024753 TTC21B EXON Missense_D1305G exm238074 2 166732698 [C/G] NM_024753 TTC21B EXON Missense_D1284H exm238078 2 166737197 [A/G] NM_024753 TTC21B EXON Missense_P1266L exm238089 2 166740365 [A/C] NM_024753 TTC21B EXON Missense_I1208S exm238097 2 166744832 [A/G] NM_024753 TTC21B EXON Missense_V1139A exm238099 2 166744850 [T/G] NM_024753 TTC21B EXON Missense_T1133N exm238105 2 166747121 [T/C] NM_024753 TTC21B EXON Missense_R1044Q exm238113 2 166747477 [T/C] NM_024753 TTC21B EXON Missense_R991H exm238115 2 166755204 [T/C] NM_024753 TTC21B EXON Missense_R981H exm238123 2 166756333 [A/G] NM_024753 TTC21B EXON Missense_R939W exm238133 2 166758383 [T/C] NM_024753 TTC21B EXON Missense_Q869R exm238134 2 166758389 [T/C] NM_024753 TTC21B EXON Missense_R867H exm238135 2 166758402 [A/G] NM_024753 TTC21B EXON Missense_R863W exm238137 2 166764256 [A/G] NM_024753 TTC21B EXON Nonsense_Q834X exm238150 2 166769046 [A/G] NM_024753 TTC21B EXON Missense_I767T exm238155 2 166769119 [T/C] NM_024753 TTC21B EXON Missense_V743I exm238161 2 166770134 [T/G] NM_024753 TTC21B EXON Missense_N721H exm238167 2 166771835 [A/G] NM_024753 TTC21B EXON Missense_R672W exm238170 2 166771886 [A/G] NM_024753 TTC21B EXON Missense_R655W exm238173 2 166771943 [T/C] NM_024753 TTC21B EXON Missense_A636T exm238178 2 166773796 [T/C] NM_024753 TTC21B EXON Missense_I624V exm238182 2 166773820 [A/G] NM_024753 TTC21B EXON Missense_R616C exm238189 2 166773969 [T/C] NM_024753 TTC21B EXON Missense_H566R exm238192 2 166773990 [A/C] NM_024753 TTC21B EXON Missense_V559G exm238195 2 166775823 [A/G] NM_024753 TTC21B EXON Missense_S546F exm238196 2 166775889 [C/G] NM_024753 TTC21B EXON Missense_S524C exm238200 2 166781127 [T/G] NM_024753 TTC21B EXON Missense_T483N exm238203 2 166781158 [A/G] NM_024753 TTC21B EXON Missense_L473F exm238204 2 166781188 [A/G] NM_024753 TTC21B EXON Missense_P463S exm238215 2 166786809 [G/C] NM_024753 TTC21B EXON Missense_N320K exm1988748 2 166788282 [A/C] NM_024753 TTC21B EXON Missense_A294S exm238220 2 166788324 [T/C] NM_024753 TTC21B EXON Missense_M280V exm238222 2 166788336 [T/C] NM_024753 TTC21B EXON Missense_T276A exm238232 2 166797556 [A/T] NM_024753,NR_038983,NR_038984 TTC21B,LOC100506134,LOC100506134 EXON Missense_T231S,Silent,Silent exm238235 2 166797582 [A/T] NM_024753,NR_038983,NR_038984 TTC21B,LOC100506134,LOC100506134 EXON Missense_Q222L,Silent,Silent exm238237 2 166797621 [A/G] NM_024753,NR_038983,NR_038984 TTC21B,LOC100506134,LOC100506134 EXON Missense_P209L,Silent,Silent exm238239 2 166797646 [T/C] NM_024753,NR_038983,NR_038984 TTC21B,LOC100506134,LOC100506134 EXON Missense_V201M,Silent,Silent exm238246 2 166799770 [T/C] NM_024753,NR_038983,NR_038984 TTC21B,LOC100506134,LOC100506134 EXON Missense_G171R,Silent,Silent exm238251 2 166799844 [A/C] NM_024753,NR_038983,NR_038984 TTC21B,LOC100506134,LOC100506134 EXON Missense_V146G,Silent,Silent exm2263957 2 166810570 [A/C] exm238284 2 166847834 [T/G] NM_001165964,NM_001202435,NM_006920,NM_001165963 SCN1A,SCN1A,SCN1A,SCN1A EXON Missense_P1956H,Missense_P1984H,Missense_P1973H,Missense_P1984H exm238286 2 166847915 [T/C] NM_001165964,NM_001202435,NM_006920,NM_001165963 SCN1A,SCN1A,SCN1A,SCN1A EXON Missense_E1929G,Missense_E1957G,Missense_E1946G,Missense_E1957G exm238287 2 166847921 [A/G] NM_001165964,NM_001202435,NM_006920,NM_001165963 SCN1A,SCN1A,SCN1A,SCN1A EXON Missense_I1927T,Missense_I1955T,Missense_I1944T,Missense_I1955T exm238290 2 166848003 [G/C] NM_001165964,NM_001202435,NM_006920,NM_001165963 SCN1A,SCN1A,SCN1A,SCN1A EXON Missense_R1900G,Missense_R1928G,Missense_R1917G,Missense_R1928G exm238294 2 166848146 [T/C] NM_001165964,NM_001202435,NM_006920,NM_001165963 SCN1A,SCN1A,SCN1A,SCN1A EXON Missense_G1852E,Missense_G1880E,Missense_G1869E,Missense_G1880E exm238324 2 166850785 [A/G] NM_001165964,NM_001202435,NM_006920,NM_001165963 SCN1A,SCN1A,SCN1A,SCN1A EXON Missense_R1547C,Missense_R1575C,Missense_R1564C,Missense_R1575C exm238330 2 166854631 [T/C] NM_001165964,NM_001202435,NM_006920,NM_001165963 SCN1A,SCN1A,SCN1A,SCN1A EXON Missense_I1437V,Missense_I1465V,Missense_I1454V,Missense_I1465V exm238339 2 166866307 [T/A] NM_001165964,NM_001202435,NM_006920,NM_001165963 SCN1A,SCN1A,SCN1A,SCN1A EXON Missense_E1280D,Missense_E1308D,Missense_E1297D,Missense_E1308D exm238342 2 166868749 [A/G] NM_001165964,NM_001202435,NM_006920,NM_001165963 SCN1A,SCN1A,SCN1A,SCN1A EXON Missense_T1222M,Missense_T1250M,Missense_T1239M,Missense_T1250M exm238355 2 166872146 [G/C] NM_001165964,NM_001202435,NM_006920,NM_001165963 SCN1A,SCN1A,SCN1A,SCN1A EXON Missense_T1146S,Missense_T1174S,Missense_T1163S,Missense_T1174S exm238359 2 166872186 [T/C] NM_001165964,NM_001202435,NM_006920,NM_001165963 SCN1A,SCN1A,SCN1A,SCN1A EXON Missense_A1133T,Missense_A1161T,Missense_A1150T,Missense_A1161T exm238365 2 166892788 [T/C] NM_001165964,NM_001202435,NM_006920,NM_001165963 SCN1A,SCN1A,SCN1A,SCN1A EXON Missense_A1039T,Missense_A1067T,Missense_A1056T,Missense_A1067T exm238369 2 166892886 [A/G] NM_001165964,NM_001202435,NM_006920,NM_001165963 SCN1A,SCN1A,SCN1A,SCN1A EXON Missense_I1006T,Missense_I1034T,Missense_I1023T,Missense_I1034T exm238382 2 166894462 [T/C] NM_001165964,NM_001202435,NM_006920,NM_001165963 SCN1A,SCN1A,SCN1A,SCN1A EXON Missense_A896T,Missense_A924T,Missense_A913T,Missense_A924T exm238396 2 166898843 [T/C] NM_001165964,NM_001202435,NM_006920,NM_001165963 SCN1A,SCN1A,SCN1A,SCN1A EXON Missense_R684Q,Missense_R712Q,Missense_R701Q,Missense_R712Q exm238403 2 166900411 [T/C] NM_001165964,NM_001202435,NM_006920,NM_001165963 SCN1A,SCN1A,SCN1A,SCN1A EXON Missense_R604H,Missense_R604H,Missense_R604H,Missense_R604H exm238408 2 166900432 [T/G] NM_001165964,NM_001202435,NM_006920,NM_001165963 SCN1A,SCN1A,SCN1A,SCN1A EXON Missense_T597N,Missense_T597N,Missense_T597N,Missense_T597N exm238421 2 166901590 [T/C] NM_001165964,NM_001202435,NM_006920,NM_001165963 SCN1A,SCN1A,SCN1A,SCN1A EXON Missense_R542Q,Missense_R542Q,Missense_R542Q,Missense_R542Q exm1988809 2 166901716 [T/C] NM_001165964,NM_001202435,NM_006920,NM_001165963 SCN1A,SCN1A,SCN1A,SCN1A EXON Missense_R500Q,Missense_R500Q,Missense_R500Q,Missense_R500Q exm238429 2 166901730 [A/C] NM_001165964,NM_001202435,NM_006920,NM_001165963 SCN1A,SCN1A,SCN1A,SCN1A EXON Missense_K495N,Missense_K495N,Missense_K495N,Missense_K495N exm238443 2 166904221 [T/G] NM_001165964,NM_001202435,NM_006920,NM_001165963 SCN1A,SCN1A,SCN1A,SCN1A EXON Nonsense_Y362X,Nonsense_Y362X,Nonsense_Y362X,Nonsense_Y362X exm238447 2 166905424 [C/G] NM_001165964,NM_001202435,NM_006920,NM_001165963 SCN1A,SCN1A,SCN1A,SCN1A EXON Missense_L334V,Missense_L334V,Missense_L334V,Missense_L334V exm2265231 2 166919976 [A/G] NM_001165964,NM_001202435,NM_006920,NM_001165963 SCN1A,SCN1A,SCN1A,SCN1A Silent,Silent,Silent,Silent exm238470 2 166930064 [A/G] NM_001165964,NM_001202435,NM_006920,NM_001165963 SCN1A,SCN1A,SCN1A,SCN1A EXON Missense_A23V,Missense_A23V,Missense_A23V,Missense_A23V exm2273363 2 167055164 [T/C] NM_002977 SCN9A EXON Silent exm238473 2 167055193 [T/C] NM_002977 SCN9A EXON Missense_S1975G exm238475 2 167055358 [G/C] NM_002977 SCN9A EXON Missense_D1920H exm238476 2 167055370 [A/G] NM_002977 SCN9A EXON Missense_L1916F exm238479 2 167055393 [T/C] NM_002977 SCN9A EXON Missense_D1908G exm1988833 2 167055438 [T/C] NM_002977 SCN9A EXON Missense_R1893H exm238490 2 167055962 [C/G] NM_002977 SCN9A EXON Missense_D1718E exm238495 2 167056329 [A/G] NM_002977 SCN9A EXON Missense_T1596I exm238525 2 167089942 [C/G] NM_002977 SCN9A EXON Missense_L1267V exm238528 2 167094604 [A/G] NM_002977 SCN9A EXON Synonymous_D1256D exm238529 2 167094638 [T/C] NM_002977 SCN9A EXON Missense_N1245S exm238538 2 167099130 [A/G] NM_002977 SCN9A EXON Missense_I1159T exm238539 2 167099133 [T/G] NM_002977 SCN9A EXON Missense_N1158T exm238542 2 167099158 [A/G] NM_002977 SCN9A EXON Missense_W1150R exm238544 2 167108344 [A/G] NM_002977 SCN9A EXON Missense_P1124S exm238545 2 167108345 [A/C] NM_002977 SCN9A EXON Missense_L1123F exm238546 2 167108385 [T/C] NM_002977 SCN9A EXON Missense_R1110Q exm238547 2 167108386 [A/G] NM_002977 SCN9A EXON Missense_R1110W exm238550 2 167128917 [T/C] NM_002977 SCN9A EXON Missense_S1104G exm238551 2 167128931 [A/G] NM_002977 SCN9A EXON Missense_S1099L exm238556 2 167129093 [T/C] NM_002977 SCN9A EXON Missense_K1045R exm238564 2 167129209 [G/C] NM_002977 SCN9A EXON Missense_K1006N exm238567 2 167129240 [T/C] NM_002977 SCN9A EXON Missense_R996H exm238569 2 167129256 [A/C] NM_002977 SCN9A EXON Missense_V991L exm238570 2 167129258 [T/C] NM_002977 SCN9A EXON Missense_Y990C exm238574 2 167133512 [A/G] NM_002977 SCN9A EXON Missense_M941T exm238575 2 167133540 [T/G] NM_002977 SCN9A EXON Missense_M932L exm238591 2 167134745 [A/G] NM_002977 SCN9A EXON Missense_W797R exm1988871 2 167134775 [T/C] NM_002977 SCN9A EXON Missense_M787V exm238593 2 167134816 [G/C] NM_002977 SCN9A EXON Missense_T773S exm238598 2 167136962 [T/C] NM_002977 SCN9A EXON Missense_I739V exm238600 2 167137018 [A/T] NM_002977 SCN9A EXON Missense_I720K exm238601 2 167137020 [C/G] NM_002977 SCN9A EXON Missense_W719C exm238613 2 167138296 [T/C] NM_002977 SCN9A EXON Missense_K655R exm238622 2 167141109 [T/G] NM_002977 SCN9A EXON Missense_P610T exm238624 2 167141193 [T/C] NM_002977 SCN9A EXON Missense_E582K exm238629 2 167142893 [T/C] NM_002977 SCN9A EXON Missense_E519K exm238633 2 167142979 [T/C] NM_002977 SCN9A EXON Missense_S490N exm238643 2 167144981 [A/G] NM_002977 SCN9A EXON Missense_L427S exm238644 2 167144984 [T/A] NM_002977 SCN9A EXON Missense_M426K exm1988892 2 167145053 [A/G] NM_002977 SCN9A EXON Missense_M403T exm238651 2 167145146 [T/C] NM_002977 SCN9A EXON Missense_R372H exm238652 2 167145152 [A/G] NM_002977 SCN9A EXON Missense_T370M exm238663 2 167160752 [G/C] NM_002977 SCN9A EXON Missense_I228M exm238669 2 167162344 [T/C] NM_002977 SCN9A EXON Missense_R185H exm238674 2 167163482 [T/G] NM_002977 SCN9A EXON Missense_K121Q exm238678 2 167163583 [T/G] NM_002977 SCN9A EXON Missense_T87N exm238681 2 167168062 [T/C] NM_002977 SCN9A EXON Missense_G69S exm1988909 2 167262143 [T/C] NR_045628,NM_002976 SCN7A,SCN7A EXON Silent,Missense_G1666S exm238696 2 167262160 [A/G] NR_045628,NM_002976 SCN7A,SCN7A EXON Silent,Missense_V1660A exm238697 2 167262169 [T/C] NR_045628,NM_002976 SCN7A,SCN7A EXON Silent,Missense_D1657G exm238698 2 167262180 [G/C] NR_045628,NM_002976 SCN7A,SCN7A EXON Silent,Missense_M1653I exm238699 2 167262211 [T/C] NR_045628,NM_002976 SCN7A,SCN7A EXON Silent,Missense_R1643Q exm238700 2 167262238 [T/C] NR_045628,NM_002976 SCN7A,SCN7A EXON Silent,Missense_R1634H exm238703 2 167262274 [T/C] NR_045628,NM_002976 SCN7A,SCN7A EXON Silent,Missense_R1622Q exm238709 2 167262353 [C/G] NR_045628,NM_002976 SCN7A,SCN7A EXON Silent,Missense_V1596L exm238711 2 167262404 [A/G] NR_045628,NM_002976 SCN7A,SCN7A EXON Silent,Missense_L1579F exm238712 2 167262592 [T/C] NR_045628,NM_002976 SCN7A,SCN7A EXON Silent,Missense_R1516K exm1988914 2 167262631 [A/G] NR_045628,NM_002976 SCN7A,SCN7A EXON Silent,Missense_S1503F exm238725 2 167262967 [A/G] NR_045628,NM_002976 SCN7A,SCN7A EXON Silent,Missense_M1391T exm1988920 2 167263085 [A/G] NR_045628,NM_002976 SCN7A,SCN7A EXON Silent,Missense_R1352W exm238733 2 167263151 [A/G] NR_045628,NM_002976 SCN7A,SCN7A EXON Silent,Missense_C1330R exm238734 2 167263155 [A/T] NR_045628,NM_002976 SCN7A,SCN7A EXON Silent,Synonymous_G1328G exm2273834 2 167266219 [A/G] NR_045628,NM_002976 SCN7A,SCN7A EXON Silent,Missense_A1313V exm238741 2 167266312 [A/G] NR_045628,NM_002976 SCN7A,SCN7A EXON Silent,Missense_A1282V exm238744 2 167266390 [A/G] NR_045628,NM_002976 SCN7A,SCN7A EXON Silent,Missense_I1256T exm238747 2 167266447 [T/C] NR_045628,NM_002976 SCN7A,SCN7A Silent,Silent exm2236501 2 167266811 [T/C] NR_045628,NM_002976 SCN7A,SCN7A EXON Silent,Missense_I1210M exm238751 2 167269585 [T/G] NR_045628,NM_002976 SCN7A,SCN7A EXON Silent,Missense_S1154Y exm238757 2 167273314 [T/C] NR_045628,NM_002976 SCN7A,SCN7A EXON Silent,Missense_R1106Q exm238765 2 167279780 [T/C] NR_045628,NM_002976 SCN7A,SCN7A EXON Silent,Missense_V1006M exm238773 2 167279922 [A/C] NR_045628,NM_002976 SCN7A,SCN7A EXON Silent,Missense_M958I exm238775 2 167284356 [T/G] NR_045628,NM_002976 SCN7A,SCN7A EXON Silent,Missense_E932A exm238777 2 167284441 [T/C] NR_045628,NM_002976 SCN7A,SCN7A EXON Silent,Missense_G904R exm238786 2 167288943 [A/T] NR_045628,NM_002976 SCN7A,SCN7A EXON Silent,Missense_L826H exm238788 2 167288968 [A/C] NR_045628,NM_002976 SCN7A,SCN7A EXON Silent,Missense_A818S exm238789 2 167288989 [T/C] NR_045628,NM_002976 SCN7A,SCN7A EXON Silent,Missense_S811G exm238791 2 167289012 [A/T] NR_045628,NM_002976 SCN7A,SCN7A EXON Silent,Missense_D803V exm238796 2 167289204 [A/G] NR_045628,NM_002976 SCN7A,SCN7A EXON Silent,Missense_A739V exm238797 2 167289216 [T/C] NR_045628,NM_002976 SCN7A,SCN7A EXON Silent,Missense_K735R exm238803 2 167298015 [T/C] NR_045628,NM_002976 SCN7A,SCN7A EXON Silent,Missense_R683Q exm238804 2 167298034 [A/C] NR_045628,NM_002976 SCN7A,SCN7A EXON Silent,Missense_S677A exm238807 2 167298093 [A/G] NR_045628,NM_002976 SCN7A,SCN7A EXON Silent,Missense_V657A exm238811 2 167298233 [T/C] NR_045628,NM_002976 SCN7A,SCN7A EXON Silent,Nonsense_W610X exm238813 2 167300015 [A/T] NR_045628,NM_002976 SCN7A,SCN7A EXON Silent,Missense_M600L exm238817 2 167300059 [T/C] NR_045628,NM_002976 SCN7A,SCN7A EXON Silent,Missense_C585Y exm238820 2 167300128 [T/C] NR_045628,NM_002976 SCN7A,SCN7A EXON Silent,Missense_Y562C exm238823 2 167301285 [T/C] NR_045628,NM_002976 SCN7A,SCN7A EXON Silent,Missense_N538S exm238825 2 167301355 [T/C] NR_045628,NM_002976 SCN7A,SCN7A EXON Silent,Missense_I515V exm238826 2 167301359 [T/C] NR_045628,NM_002976 SCN7A,SCN7A EXON Silent,Missense_I513M exm238829 2 167301486 [A/C] NR_045628,NM_002976 SCN7A,SCN7A EXON Silent,Missense_C471F exm238832 2 167304142 [C/G] NR_045628,NM_002976 SCN7A,SCN7A EXON Silent,Missense_A456G exm238834 2 167304217 [T/G] NR_045628,NM_002976 SCN7A,SCN7A EXON Silent,Missense_A431D exm238836 2 167313451 [T/C] NR_045628,NM_002976 SCN7A,SCN7A EXON Silent,Missense_I407V exm238840 2 167313559 [T/C] NR_045628,NM_002976 SCN7A,SCN7A EXON Silent,Missense_M371V exm238841 2 167318913 [T/C] NR_045628,NM_002976 SCN7A,SCN7A EXON Silent,Missense_V357I exm238856 2 167322455 [T/G] NR_045628,NM_002976 SCN7A,SCN7A EXON Silent,Missense_Q236P exm238864 2 167330355 [T/C] NR_045628,NM_002976 SCN7A,SCN7A EXON Silent,Missense_V133I exm238867 2 167330770 [T/C] NR_045628,NM_002976 SCN7A,SCN7A EXON Silent,Missense_I107V exm238868 2 167330788 [T/A] NR_045628,NM_002976 SCN7A,SCN7A EXON Silent,Missense_L101M exm238873 2 167334085 [T/G] NR_045628,NM_002976 SCN7A,SCN7A EXON Silent,Missense_T41N exm-rs13015447 2 167377978 [A/C] exm2265232 2 167472743 [A/G] exm2261104 2 167724626 [T/C] exm238877 2 167759994 [T/C] NM_001079810,NM_152381,NM_001199143 XIRP2,XIRP2,XIRP2 EXON Missense_M1T,Missense_M1T,Missense_M1T exm238878 2 167760002 [A/G] NM_001079810,NM_152381,NM_001199143 XIRP2,XIRP2,XIRP2 EXON Missense_M4V,Missense_M4V,Missense_M4V exm238885 2 167760249 [A/C] NM_001079810,NM_152381,NM_001199143 XIRP2,XIRP2,XIRP2 EXON Missense_N86T,Missense_N86T,Missense_N86T exm1988991 2 167760318 [A/G] NM_001079810,NM_152381,NM_001199143 XIRP2,XIRP2,XIRP2 EXON Missense_R109H,Missense_R109H,Missense_R109H exm2265233 2 167816291 [A/G] NM_001079810,NM_152381,NM_001199143 XIRP2,XIRP2,XIRP2 Silent,Silent,Silent exm1988995 2 167992429 [T/C] NM_001079810,NM_152381,NM_001199143 XIRP2,XIRP2,XIRP2 EXON Missense_I140T,Missense_I140T,Missense_I140T exm238904 2 167992482 [A/G] NM_001079810,NM_152381,NM_001199143 XIRP2,XIRP2,XIRP2 EXON Missense_E158K,Missense_E158K,Missense_E158K exm238907 2 168041064 [T/C] NM_001079810,NM_152381,NM_001199143 XIRP2,XIRP2,XIRP2 EXON Silent,Silent,Missense_T192M exm238908 2 168041087 [T/C] NM_001079810,NM_152381,NM_001199143 XIRP2,XIRP2,XIRP2 EXON Silent,Silent,Missense_L200F exm238909 2 168041152 [T/C] NM_001079810,NM_152381,NM_001199143 XIRP2,XIRP2,XIRP2 Silent,Silent,Silent exm238918 2 168074706 [T/C] NM_001079810,NM_152381,NM_001199143,NM_001199144,NM_001199145 XIRP2,XIRP2,XIRP2,XIRP2,XIRP2 EXON Missense_P252S,Missense_P252S,Missense_P285S,Missense_P30S,Missense_P30S exm238920 2 168074745 [A/G] NM_001079810,NM_152381,NM_001199143,NM_001199144,NM_001199145 XIRP2,XIRP2,XIRP2,XIRP2,XIRP2 EXON Missense_E265K,Missense_E265K,Missense_E298K,Missense_E43K,Missense_E43K exm238922 2 168074761 [A/G] NM_001079810,NM_152381,NM_001199143,NM_001199144,NM_001199145 XIRP2,XIRP2,XIRP2,XIRP2,XIRP2 EXON Missense_R270H,Missense_R270H,Missense_R303H,Missense_R48H,Missense_R48H exm238924 2 168096375 [A/G] NM_001079810,NM_152381,NM_001199143,NM_001199144,NM_001199145 XIRP2,XIRP2,XIRP2,XIRP2,XIRP2 EXON Missense_H290R,Missense_H290R,Missense_H323R,Missense_H68R,Missense_H68R exm238925 2 168096408 [T/A] NM_001079810,NM_152381,NM_001199143,NM_001199144,NM_001199145 XIRP2,XIRP2,XIRP2,XIRP2,XIRP2 EXON Missense_Q301L,Missense_Q301L,Missense_Q334L,Missense_Q79L,Missense_Q79L exm238931 2 168098296 [T/C] NM_001079810,NM_152381,NM_001199143,NM_001199144,NM_001199145 XIRP2,XIRP2,XIRP2,XIRP2,XIRP2 EXON Missense_T351I,Missense_T351I,Missense_T384I,Missense_T129I,Missense_T129I exm238935 2 168098394 [T/A] NM_001079810,NM_152381,NM_001199143,NM_001199144,NM_001199145 XIRP2,XIRP2,XIRP2,XIRP2,XIRP2 EXON Missense_M384L,Missense_M384L,Missense_M417L,Missense_M162L,Missense_M162L exm2236513 2 168099217 [A/G] NM_001079810,NM_152381,NM_001199143,NM_001199144,NM_001199145 XIRP2,XIRP2,XIRP2,XIRP2,XIRP2 EXON Silent,Missense_A439T,Silent,Missense_A217T,Silent exm238944 2 168099302 [T/C] NM_001079810,NM_152381,NM_001199143,NM_001199144,NM_001199145 XIRP2,XIRP2,XIRP2,XIRP2,XIRP2 EXON Silent,Missense_T467I,Silent,Missense_T245I,Silent exm238945 2 168099316 [T/C] NM_001079810,NM_152381,NM_001199143,NM_001199144,NM_001199145 XIRP2,XIRP2,XIRP2,XIRP2,XIRP2 EXON Silent,Missense_S472P,Silent,Missense_S250P,Silent exm238951 2 168099500 [A/G] NM_001079810,NM_152381,NM_001199143,NM_001199144,NM_001199145 XIRP2,XIRP2,XIRP2,XIRP2,XIRP2 EXON Silent,Missense_S533N,Silent,Missense_S311N,Silent exm238953 2 168099557 [G/C] NM_001079810,NM_152381,NM_001199143,NM_001199144,NM_001199145 XIRP2,XIRP2,XIRP2,XIRP2,XIRP2 EXON Silent,Missense_S552T,Silent,Missense_S330T,Silent exm238955 2 168099724 [A/G] NM_001079810,NM_152381,NM_001199143,NM_001199144,NM_001199145 XIRP2,XIRP2,XIRP2,XIRP2,XIRP2 EXON Silent,Missense_I608V,Silent,Missense_I386V,Silent exm238958 2 168099775 [C/G] NM_001079810,NM_152381,NM_001199143,NM_001199144,NM_001199145 XIRP2,XIRP2,XIRP2,XIRP2,XIRP2 EXON Silent,Missense_P625A,Silent,Missense_P403A,Silent exm238960 2 168099787 [G/C] NM_001079810,NM_152381,NM_001199143,NM_001199144,NM_001199145 XIRP2,XIRP2,XIRP2,XIRP2,XIRP2 EXON Silent,Missense_L629V,Silent,Missense_L407V,Silent exm238961 2 168099796 [T/C] NM_001079810,NM_152381,NM_001199143,NM_001199144,NM_001199145 XIRP2,XIRP2,XIRP2,XIRP2,XIRP2 EXON Silent,Missense_Y632H,Silent,Missense_Y410H,Silent exm238971 2 168100020 [T/G] NM_001079810,NM_152381,NM_001199143,NM_001199144,NM_001199145 XIRP2,XIRP2,XIRP2,XIRP2,XIRP2 EXON Silent,Missense_Q706H,Silent,Missense_Q484H,Silent exm238973 2 168100111 [A/G] NM_001079810,NM_152381,NM_001199143,NM_001199144,NM_001199145 XIRP2,XIRP2,XIRP2,XIRP2,XIRP2 EXON Silent,Missense_E737K,Silent,Missense_E515K,Silent exm238975 2 168100187 [T/A] NM_001079810,NM_152381,NM_001199143,NM_001199144,NM_001199145 XIRP2,XIRP2,XIRP2,XIRP2,XIRP2 EXON Silent,Missense_V762D,Silent,Missense_V540D,Silent exm238984 2 168100280 [A/G] NM_001079810,NM_152381,NM_001199143,NM_001199144,NM_001199145 XIRP2,XIRP2,XIRP2,XIRP2,XIRP2 EXON Silent,Missense_R793Q,Silent,Missense_R571Q,Silent exm238990 2 168100367 [A/G] NM_001079810,NM_152381,NM_001199143,NM_001199144,NM_001199145 XIRP2,XIRP2,XIRP2,XIRP2,XIRP2 EXON Silent,Missense_E822G,Silent,Missense_E600G,Silent exm238998 2 168100492 [T/C] NM_001079810,NM_152381,NM_001199143,NM_001199144,NM_001199145 XIRP2,XIRP2,XIRP2,XIRP2,XIRP2 EXON Silent,Missense_R864C,Silent,Missense_R642C,Silent exm239000 2 168100553 [T/C] NM_001079810,NM_152381,NM_001199143,NM_001199144,NM_001199145 XIRP2,XIRP2,XIRP2,XIRP2,XIRP2 EXON Silent,Missense_I884T,Silent,Missense_I662T,Silent exm239002 2 168100660 [A/C] NM_001079810,NM_152381,NM_001199143,NM_001199144,NM_001199145 XIRP2,XIRP2,XIRP2,XIRP2,XIRP2 EXON Silent,Missense_P920T,Silent,Missense_P698T,Silent exm239005 2 168100684 [A/G] NM_001079810,NM_152381,NM_001199143,NM_001199144,NM_001199145 XIRP2,XIRP2,XIRP2,XIRP2,XIRP2 EXON Silent,Missense_K928E,Silent,Missense_K706E,Silent exm239006 2 168100724 [A/G] NM_001079810,NM_152381,NM_001199143,NM_001199144,NM_001199145 XIRP2,XIRP2,XIRP2,XIRP2,XIRP2 EXON Silent,Missense_D941G,Silent,Missense_D719G,Silent exm1989015 2 168100903 [A/G] NM_001079810,NM_152381,NM_001199143,NM_001199144,NM_001199145 XIRP2,XIRP2,XIRP2,XIRP2,XIRP2 EXON Silent,Missense_V1001I,Silent,Missense_V779I,Silent exm1989017 2 168100993 [A/G] NM_001079810,NM_152381,NM_001199143,NM_001199144,NM_001199145 XIRP2,XIRP2,XIRP2,XIRP2,XIRP2 EXON Silent,Missense_E1031K,Silent,Missense_E809K,Silent exm239026 2 168101251 [A/G] NM_001079810,NM_152381,NM_001199143,NM_001199144,NM_001199145 XIRP2,XIRP2,XIRP2,XIRP2,XIRP2 EXON Silent,Missense_E1117K,Silent,Missense_E895K,Silent exm239028 2 168101377 [C/G] NM_001079810,NM_152381,NM_001199143,NM_001199144,NM_001199145 XIRP2,XIRP2,XIRP2,XIRP2,XIRP2 EXON Silent,Missense_G1159R,Silent,Missense_G937R,Silent exm239029 2 168101386 [A/G] NM_001079810,NM_152381,NM_001199143,NM_001199144,NM_001199145 XIRP2,XIRP2,XIRP2,XIRP2,XIRP2 EXON Silent,Missense_V1162I,Silent,Missense_V940I,Silent exm239039 2 168101570 [T/C] NM_001079810,NM_152381,NM_001199143,NM_001199144,NM_001199145 XIRP2,XIRP2,XIRP2,XIRP2,XIRP2 EXON Silent,Missense_I1223T,Silent,Missense_I1001T,Silent exm239040 2 168101621 [C/G] NM_001079810,NM_152381,NM_001199143,NM_001199144,NM_001199145 XIRP2,XIRP2,XIRP2,XIRP2,XIRP2 EXON Silent,Missense_R1240T,Silent,Missense_R1018T,Silent exm239043 2 168101696 [T/C] NM_001079810,NM_152381,NM_001199143,NM_001199144,NM_001199145 XIRP2,XIRP2,XIRP2,XIRP2,XIRP2 EXON Silent,Missense_T1265I,Silent,Missense_T1043I,Silent exm239049 2 168101906 [A/C] NM_001079810,NM_152381,NM_001199143,NM_001199144,NM_001199145 XIRP2,XIRP2,XIRP2,XIRP2,XIRP2 EXON Silent,Missense_T1335N,Silent,Missense_T1113N,Silent exm239050 2 168101944 [T/C] NM_001079810,NM_152381,NM_001199143,NM_001199144,NM_001199145 XIRP2,XIRP2,XIRP2,XIRP2,XIRP2 EXON Silent,Nonsense_R1348X,Silent,Nonsense_R1126X,Silent exm239051 2 168101945 [A/G] NM_001079810,NM_152381,NM_001199143,NM_001199144,NM_001199145 XIRP2,XIRP2,XIRP2,XIRP2,XIRP2 EXON Silent,Missense_R1348Q,Silent,Missense_R1126Q,Silent exm239052 2 168101984 [T/C] NM_001079810,NM_152381,NM_001199143,NM_001199144,NM_001199145 XIRP2,XIRP2,XIRP2,XIRP2,XIRP2 EXON Silent,Missense_S1361F,Silent,Missense_S1139F,Silent exm239059 2 168102145 [A/G] NM_001079810,NM_152381,NM_001199143,NM_001199144,NM_001199145 XIRP2,XIRP2,XIRP2,XIRP2,XIRP2 EXON Silent,Missense_G1415S,Silent,Missense_G1193S,Silent exm239069 2 168102391 [T/C] NM_001079810,NM_152381,NM_001199143,NM_001199144,NM_001199145 XIRP2,XIRP2,XIRP2,XIRP2,XIRP2 EXON Silent,Nonsense_R1497X,Silent,Nonsense_R1275X,Silent exm239075 2 168102617 [T/C] NM_001079810,NM_152381,NM_001199143,NM_001199144,NM_001199145 XIRP2,XIRP2,XIRP2,XIRP2,XIRP2 EXON Silent,Missense_I1572T,Silent,Missense_I1350T,Silent exm239076 2 168102650 [T/C] NM_001079810,NM_152381,NM_001199143,NM_001199144,NM_001199145 XIRP2,XIRP2,XIRP2,XIRP2,XIRP2 EXON Silent,Missense_A1583V,Silent,Missense_A1361V,Silent exm239077 2 168102774 [T/G] NM_001079810,NM_152381,NM_001199143,NM_001199144,NM_001199145 XIRP2,XIRP2,XIRP2,XIRP2,XIRP2 EXON Silent,Missense_L1624F,Silent,Missense_L1402F,Silent exm239078 2 168102794 [A/G] NM_001079810,NM_152381,NM_001199143,NM_001199144,NM_001199145 XIRP2,XIRP2,XIRP2,XIRP2,XIRP2 EXON Silent,Missense_G1631E,Silent,Missense_G1409E,Silent exm239081 2 168102883 [A/C] NM_001079810,NM_152381,NM_001199143,NM_001199144,NM_001199145 XIRP2,XIRP2,XIRP2,XIRP2,XIRP2 EXON Silent,Missense_Q1661K,Silent,Missense_Q1439K,Silent exm239082 2 168102890 [T/C] NM_001079810,NM_152381,NM_001199143,NM_001199144,NM_001199145 XIRP2,XIRP2,XIRP2,XIRP2,XIRP2 EXON Silent,Missense_I1663T,Silent,Missense_I1441T,Silent exm239086 2 168102971 [T/C] NM_001079810,NM_152381,NM_001199143,NM_001199144,NM_001199145 XIRP2,XIRP2,XIRP2,XIRP2,XIRP2 EXON Silent,Missense_T1690I,Silent,Missense_T1468I,Silent exm239087 2 168103016 [A/G] NM_001079810,NM_152381,NM_001199143,NM_001199144,NM_001199145 XIRP2,XIRP2,XIRP2,XIRP2,XIRP2 EXON Silent,Missense_R1705H,Silent,Missense_R1483H,Silent exm2273836 2 168103129 [A/G] NM_001079810,NM_152381,NM_001199143,NM_001199144,NM_001199145 XIRP2,XIRP2,XIRP2,XIRP2,XIRP2 EXON Silent,Missense_V1743I,Silent,Missense_V1521I,Silent exm2236519 2 168103193 [A/C] NM_001079810,NM_152381,NM_001199143,NM_001199144,NM_001199145 XIRP2,XIRP2,XIRP2,XIRP2,XIRP2 EXON Silent,Missense_E1764A,Silent,Missense_E1542A,Silent exm239093 2 168103244 [T/C] NM_001079810,NM_152381,NM_001199143,NM_001199144,NM_001199145 XIRP2,XIRP2,XIRP2,XIRP2,XIRP2 EXON Silent,Missense_I1781T,Silent,Missense_I1559T,Silent exm239094 2 168103304 [A/G] NM_001079810,NM_152381,NM_001199143,NM_001199144,NM_001199145 XIRP2,XIRP2,XIRP2,XIRP2,XIRP2 EXON Silent,Missense_R1801H,Silent,Missense_R1579H,Silent exm239096 2 168103418 [A/G] NM_001079810,NM_152381,NM_001199143,NM_001199144,NM_001199145 XIRP2,XIRP2,XIRP2,XIRP2,XIRP2 EXON Silent,Missense_G1839D,Silent,Missense_G1617D,Silent exm239102 2 168103565 [A/C] NM_001079810,NM_152381,NM_001199143,NM_001199144,NM_001199145 XIRP2,XIRP2,XIRP2,XIRP2,XIRP2 EXON Silent,Missense_P1888H,Silent,Missense_P1666H,Silent exm1989033 2 168103753 [T/G] NM_001079810,NM_152381,NM_001199143,NM_001199144,NM_001199145 XIRP2,XIRP2,XIRP2,XIRP2,XIRP2 EXON Silent,Missense_A1951S,Silent,Missense_A1729S,Silent exm239110 2 168103846 [A/G] NM_001079810,NM_152381,NM_001199143,NM_001199144,NM_001199145 XIRP2,XIRP2,XIRP2,XIRP2,XIRP2 EXON Silent,Missense_G1982S,Silent,Missense_G1760S,Silent exm239116 2 168103925 [A/G] NM_001079810,NM_152381,NM_001199143,NM_001199144,NM_001199145 XIRP2,XIRP2,XIRP2,XIRP2,XIRP2 EXON Silent,Missense_N2008S,Silent,Missense_N1786S,Silent exm239118 2 168103997 [A/G] NM_001079810,NM_152381,NM_001199143,NM_001199144,NM_001199145 XIRP2,XIRP2,XIRP2,XIRP2,XIRP2 EXON Silent,Missense_R2032H,Silent,Missense_R1810H,Silent exm239123 2 168104099 [T/C] NM_001079810,NM_152381,NM_001199143,NM_001199144,NM_001199145 XIRP2,XIRP2,XIRP2,XIRP2,XIRP2 EXON Silent,Missense_T2066I,Silent,Missense_T1844I,Silent exm239126 2 168104183 [C/G] NM_001079810,NM_152381,NM_001199143,NM_001199144,NM_001199145 XIRP2,XIRP2,XIRP2,XIRP2,XIRP2 EXON Silent,Missense_T2094R,Silent,Missense_T1872R,Silent exm239135 2 168104516 [A/C] NM_001079810,NM_152381,NM_001199143,NM_001199144,NM_001199145 XIRP2,XIRP2,XIRP2,XIRP2,XIRP2 EXON Silent,Missense_N2205T,Silent,Missense_N1983T,Silent exm239139 2 168104627 [A/G] NM_001079810,NM_152381,NM_001199143,NM_001199144,NM_001199145 XIRP2,XIRP2,XIRP2,XIRP2,XIRP2 EXON Silent,Missense_R2242Q,Silent,Missense_R2020Q,Silent exm239141 2 168104678 [T/C] NM_001079810,NM_152381,NM_001199143,NM_001199144,NM_001199145 XIRP2,XIRP2,XIRP2,XIRP2,XIRP2 EXON Silent,Missense_T2259I,Silent,Missense_T2037I,Silent exm239143 2 168104739 [T/G] NM_001079810,NM_152381,NM_001199143,NM_001199144,NM_001199145 XIRP2,XIRP2,XIRP2,XIRP2,XIRP2 EXON Silent,Missense_E2279D,Silent,Missense_E2057D,Silent exm1989043 2 168104747 [T/C] NM_001079810,NM_152381,NM_001199143,NM_001199144,NM_001199145 XIRP2,XIRP2,XIRP2,XIRP2,XIRP2 EXON Silent,Missense_V2282A,Silent,Missense_V2060A,Silent exm239149 2 168104988 [T/G] NM_001079810,NM_152381,NM_001199143,NM_001199144,NM_001199145 XIRP2,XIRP2,XIRP2,XIRP2,XIRP2 EXON Silent,Missense_M2362I,Silent,Missense_M2140I,Silent exm239165 2 168105301 [A/G] NM_001079810,NM_152381,NM_001199143,NM_001199144,NM_001199145 XIRP2,XIRP2,XIRP2,XIRP2,XIRP2 EXON Silent,Missense_M2467V,Silent,Missense_M2245V,Silent exm239168 2 168105326 [T/C] NM_001079810,NM_152381,NM_001199143,NM_001199144,NM_001199145 XIRP2,XIRP2,XIRP2,XIRP2,XIRP2 EXON Silent,Missense_T2475M,Silent,Missense_T2253M,Silent exm239171 2 168105449 [T/C] NM_001079810,NM_152381,NM_001199143,NM_001199144,NM_001199145 XIRP2,XIRP2,XIRP2,XIRP2,XIRP2 EXON Silent,Missense_A2516V,Silent,Missense_A2294V,Silent exm239182 2 168105701 [A/G] NM_001079810,NM_152381,NM_001199143,NM_001199144,NM_001199145 XIRP2,XIRP2,XIRP2,XIRP2,XIRP2 EXON Silent,Missense_G2600E,Silent,Missense_G2378E,Silent exm239187 2 168105758 [A/G] NM_001079810,NM_152381,NM_001199143,NM_001199144,NM_001199145 XIRP2,XIRP2,XIRP2,XIRP2,XIRP2 EXON Silent,Missense_R2619Q,Silent,Missense_R2397Q,Silent exm239201 2 168106085 [A/G] NM_001079810,NM_152381,NM_001199143,NM_001199144,NM_001199145 XIRP2,XIRP2,XIRP2,XIRP2,XIRP2 EXON Silent,Missense_S2728N,Silent,Missense_S2506N,Silent exm239202 2 168106126 [A/G] NM_001079810,NM_152381,NM_001199143,NM_001199144,NM_001199145 XIRP2,XIRP2,XIRP2,XIRP2,XIRP2 EXON Silent,Missense_T2742A,Silent,Missense_T2520A,Silent exm239205 2 168106144 [A/T] NM_001079810,NM_152381,NM_001199143,NM_001199144,NM_001199145 XIRP2,XIRP2,XIRP2,XIRP2,XIRP2 EXON Silent,Missense_Y2748N,Silent,Missense_Y2526N,Silent exm239206 2 168106173 [A/C] NM_001079810,NM_152381,NM_001199143,NM_001199144,NM_001199145 XIRP2,XIRP2,XIRP2,XIRP2,XIRP2 EXON Silent,Missense_S2757R,Silent,Missense_S2535R,Silent exm239209 2 168106210 [T/C] NM_001079810,NM_152381,NM_001199143,NM_001199144,NM_001199145 XIRP2,XIRP2,XIRP2,XIRP2,XIRP2 EXON Silent,Missense_H2770Y,Silent,Missense_H2548Y,Silent exm239210 2 168106246 [A/G] NM_001079810,NM_152381,NM_001199143,NM_001199144,NM_001199145 XIRP2,XIRP2,XIRP2,XIRP2,XIRP2 EXON Silent,Missense_V2782I,Silent,Missense_V2560I,Silent exm2254762 2 168106407 [A/G] NM_001079810,NM_152381,NM_001199143,NM_001199144,NM_001199145 XIRP2,XIRP2,XIRP2,XIRP2,XIRP2 EXON Silent,Synonymous_L2835L,Silent,Synonymous_L2613L,Silent exm239225 2 168106610 [A/G] NM_001079810,NM_152381,NM_001199143,NM_001199144,NM_001199145 XIRP2,XIRP2,XIRP2,XIRP2,XIRP2 EXON Silent,Missense_G2903D,Silent,Missense_G2681D,Silent exm239226 2 168106631 [T/C] NM_001079810,NM_152381,NM_001199143,NM_001199144,NM_001199145 XIRP2,XIRP2,XIRP2,XIRP2,XIRP2 EXON Silent,Missense_F2910S,Silent,Missense_F2688S,Silent exm239229 2 168106796 [A/G] NM_001079810,NM_152381,NM_001199143,NM_001199144,NM_001199145 XIRP2,XIRP2,XIRP2,XIRP2,XIRP2 EXON Silent,Missense_E2965G,Silent,Missense_E2743G,Silent exm239234 2 168106958 [T/C] NM_001079810,NM_152381,NM_001199143,NM_001199144,NM_001199145 XIRP2,XIRP2,XIRP2,XIRP2,XIRP2 EXON Silent,Missense_A3019V,Silent,Missense_A2797V,Silent exm239236 2 168106979 [A/G] NM_001079810,NM_152381,NM_001199143,NM_001199144,NM_001199145 XIRP2,XIRP2,XIRP2,XIRP2,XIRP2 EXON Silent,Missense_Y3026C,Silent,Missense_Y2804C,Silent exm239238 2 168107009 [C/G] NM_001079810,NM_152381,NM_001199143,NM_001199144,NM_001199145 XIRP2,XIRP2,XIRP2,XIRP2,XIRP2 EXON Silent,Missense_S3036C,Silent,Missense_S2814C,Silent exm239241 2 168107035 [A/G] NM_001079810,NM_152381,NM_001199143,NM_001199144,NM_001199145 XIRP2,XIRP2,XIRP2,XIRP2,XIRP2 EXON Silent,Missense_K3045E,Silent,Missense_K2823E,Silent exm239243 2 168107155 [A/G] NM_001079810,NM_152381,NM_001199143,NM_001199144,NM_001199145 XIRP2,XIRP2,XIRP2,XIRP2,XIRP2 EXON Silent,Missense_A3085T,Silent,Missense_A2863T,Silent exm2236524 2 168107283 [A/C] NM_001079810,NM_152381,NM_001199143,NM_001199144,NM_001199145 XIRP2,XIRP2,XIRP2,XIRP2,XIRP2 EXON Silent,Missense_E3127D,Silent,Missense_E2905D,Silent exm239252 2 168107351 [A/G] NM_001079810,NM_152381,NM_001199143,NM_001199144,NM_001199145 XIRP2,XIRP2,XIRP2,XIRP2,XIRP2 EXON Silent,Missense_Y3150C,Silent,Missense_Y2928C,Silent exm239254 2 168107353 [C/G] NM_001079810,NM_152381,NM_001199143,NM_001199144,NM_001199145 XIRP2,XIRP2,XIRP2,XIRP2,XIRP2 EXON Silent,Missense_V3151L,Silent,Missense_V2929L,Silent exm239260 2 168107491 [A/G] NM_001079810,NM_152381,NM_001199143,NM_001199144,NM_001199145 XIRP2,XIRP2,XIRP2,XIRP2,XIRP2 EXON Silent,Missense_I3197V,Silent,Missense_I2975V,Silent exm239268 2 168107737 [T/C] NM_001079810,NM_152381,NM_001199143,NM_001199144,NM_001199145 XIRP2,XIRP2,XIRP2,XIRP2,XIRP2 EXON Silent,Missense_S3279P,Silent,Missense_S3057P,Silent exm239269 2 168107747 [A/G] NM_001079810,NM_152381,NM_001199143,NM_001199144,NM_001199145 XIRP2,XIRP2,XIRP2,XIRP2,XIRP2 EXON Silent,Missense_H3282R,Silent,Missense_H3060R,Silent exm239274 2 168107864 [A/T] NM_001079810,NM_152381,NM_001199143,NM_001199144,NM_001199145 XIRP2,XIRP2,XIRP2,XIRP2,XIRP2 EXON Silent,Missense_M3321K,Silent,Missense_M3099K,Silent exm239278 2 168107990 [A/G] NM_001079810,NM_152381,NM_001199143,NM_001199144,NM_001199145 XIRP2,XIRP2,XIRP2,XIRP2,XIRP2 EXON Silent,Missense_N3363S,Silent,Missense_N3141S,Silent exm239280 2 168107993 [T/C] NM_001079810,NM_152381,NM_001199143,NM_001199144,NM_001199145 XIRP2,XIRP2,XIRP2,XIRP2,XIRP2 EXON Silent,Missense_I3364T,Silent,Missense_I3142T,Silent exm239282 2 168108032 [A/G] NM_001079810,NM_152381,NM_001199143,NM_001199144,NM_001199145 XIRP2,XIRP2,XIRP2,XIRP2,XIRP2 EXON Silent,Missense_G3377E,Silent,Missense_G3155E,Silent exm239284 2 168108094 [T/C] NM_001079810,NM_152381,NM_001199143,NM_001199144,NM_001199145 XIRP2,XIRP2,XIRP2,XIRP2,XIRP2 EXON Silent,Nonsense_R3398X,Silent,Nonsense_R3176X,Silent exm239287 2 168108205 [A/G] NM_001079810,NM_152381,NM_001199143,NM_001199144,NM_001199145 XIRP2,XIRP2,XIRP2,XIRP2,XIRP2 EXON Silent,Missense_K3435E,Silent,Missense_K3213E,Silent exm239291 2 168108245 [A/G] NM_001079810,NM_152381,NM_001199143,NM_001199144,NM_001199145 XIRP2,XIRP2,XIRP2,XIRP2,XIRP2 EXON Silent,Missense_G3448D,Silent,Missense_G3226D,Silent exm239292 2 168108338 [A/C] NM_001079810,NM_152381,NM_001199143,NM_001199144,NM_001199145 XIRP2,XIRP2,XIRP2,XIRP2,XIRP2 EXON Silent,Missense_N3479T,Silent,Missense_N3257T,Silent exm239294 2 168108352 [T/C] NM_001079810,NM_152381,NM_001199143,NM_001199144,NM_001199145 XIRP2,XIRP2,XIRP2,XIRP2,XIRP2 EXON Silent,Missense_W3484R,Silent,Missense_W3262R,Silent exm239302 2 168110599 [A/G] NM_001079810,NM_152381,NM_001199143,NM_001199144,NM_001199145 XIRP2,XIRP2,XIRP2,XIRP2,XIRP2 EXON Missense_M412V,Missense_N3538S,Missense_M445V,Missense_N3316S,Missense_M190V exm239303 2 168110617 [A/G] NM_001079810,NM_152381,NM_001199143,NM_001199144,NM_001199145 XIRP2,XIRP2,XIRP2,XIRP2,XIRP2 EXON Missense_D418N,Missense_R3544K,Missense_D451N,Missense_R3322K,Missense_D196N exm239306 2 168114435 [T/C] NM_001079810,NM_152381,NM_001199143,NM_001199144,NM_001199145 XIRP2,XIRP2,XIRP2,XIRP2,XIRP2 EXON Missense_S460F,Silent,Missense_S493F,Silent,Missense_S238F exm239308 2 168114567 [T/C] NM_001079810,NM_152381,NM_001199143,NM_001199144,NM_001199145 XIRP2,XIRP2,XIRP2,XIRP2,XIRP2 EXON Missense_T504I,Silent,Missense_T537I,Silent,Missense_T282I exm239310 2 168114624 [T/G] NM_001079810,NM_152381,NM_001199143,NM_001199144,NM_001199145 XIRP2,XIRP2,XIRP2,XIRP2,XIRP2 EXON Missense_R523M,Silent,Missense_R556M,Silent,Missense_R301M exm239317 2 168114867 [T/C] NM_001079810,NM_152381,NM_001199143,NM_001199144,NM_001199145 XIRP2,XIRP2,XIRP2,XIRP2,XIRP2 EXON Missense_L604P,Silent,Missense_L637P,Silent,Missense_L382P exm1989081 2 168114967 [A/T] NM_001079810,NM_152381,NM_001199143,NM_001199144,NM_001199145 XIRP2,XIRP2,XIRP2,XIRP2,XIRP2 EXON Missense_N637K,Silent,Missense_N670K,Silent,Missense_N415K exm239334 2 168115314 [A/C] NM_001079810,NM_152381,NM_001199143,NM_001199144,NM_001199145 XIRP2,XIRP2,XIRP2,XIRP2,XIRP2 EXON Missense_E753A,Silent,Missense_E786A,Silent,Missense_E531A exm239335 2 168115325 [A/G] NM_001079810,NM_152381,NM_001199143,NM_001199144,NM_001199145 XIRP2,XIRP2,XIRP2,XIRP2,XIRP2 EXON Missense_R757G,Silent,Missense_R790G,Silent,Missense_R535G exm239337 2 168115346 [A/G] NM_001079810,NM_152381,NM_001199143,NM_001199144,NM_001199145 XIRP2,XIRP2,XIRP2,XIRP2,XIRP2 EXON Missense_I764V,Silent,Missense_I797V,Silent,Missense_I542V exm239341 2 168115407 [T/C] NM_001079810,NM_152381,NM_001199143,NM_001199144,NM_001199145 XIRP2,XIRP2,XIRP2,XIRP2,XIRP2 EXON Missense_T784I,Silent,Missense_T817I,Silent,Missense_T562I exm239346 2 168115568 [T/C] NM_001079810,NM_152381,NM_001199143,NM_001199144,NM_001199145 XIRP2,XIRP2,XIRP2,XIRP2,XIRP2 EXON Missense_S838P,Silent,Missense_S871P,Silent,Missense_S616P exm1989087 2 168115587 [T/C] NM_001079810,NM_152381,NM_001199143,NM_001199144,NM_001199145 XIRP2,XIRP2,XIRP2,XIRP2,XIRP2 EXON Missense_T844I,Silent,Missense_T877I,Silent,Missense_T622I exm239351 2 168115710 [T/G] NM_001079810,NM_152381,NM_001199143,NM_001199144,NM_001199145 XIRP2,XIRP2,XIRP2,XIRP2,XIRP2 EXON Missense_V885G,Silent,Missense_V918G,Silent,Missense_V663G exm239352 2 168115730 [T/C] NM_001079810,NM_152381,NM_001199143,NM_001199144,NM_001199145 XIRP2,XIRP2,XIRP2,XIRP2,XIRP2 EXON Missense_R892C,Silent,Missense_R925C,Silent,Missense_R670C exm239355 2 168115738 [A/T] NM_001079810,NM_152381,NM_001199143,NM_001199144,NM_001199145 XIRP2,XIRP2,XIRP2,XIRP2,XIRP2 EXON Missense_N894K,Silent,Missense_N927K,Silent,Missense_N672K exm239359 2 168115797 [G/C] NM_001079810,NM_152381,NM_001199143,NM_001199144,NM_001199145 XIRP2,XIRP2,XIRP2,XIRP2,XIRP2 EXON Missense_R914T,Silent,Missense_R947T,Silent,Missense_R692T exm2261105 2 168518206 [T/G] exm2265234 2 168548738 [A/G] exm-rs1900833 2 168583981 [A/G] exm1989097 2 168725680 [T/C] NM_020981 B3GALT1 EXON Missense_A44V exm239374 2 168725741 [T/A] NM_020981 B3GALT1 EXON Missense_E64D exm1989099 2 168726199 [A/G] NM_020981 B3GALT1 EXON Missense_R217H exm239406 2 168726447 [G/C] NM_020981 B3GALT1 EXON Missense_V300L exm239421 2 168873571 [G/C] NM_013233 STK39 EXON Missense_E471Q exm239434 2 168931619 [T/C] NM_013233 STK39 EXON Synonymous_K404K exm239435 2 168931636 [T/C] NM_013233 STK39 EXON Missense_A399T exm239463 2 169023878 [T/C] NM_013233 STK39 EXON Missense_V121I exm-rs10208207 2 169074972 [T/C] NM_013233 STK39 Silent exm-rs2102808 2 169117025 [T/G] exm2263915 2 169199695 [A/C] exm239480 2 169312969 [T/C] NM_203463,NM_001256126 CERS6,CERS6 EXON Missense_I4T,Missense_I4T exm239481 2 169312974 [A/G] NM_203463,NM_001256126 CERS6,CERS6 EXON Missense_A6T,Missense_A6T exm-rs13393173 2 169389091 [A/G] NM_203463,NM_001256126 CERS6,CERS6 Silent,Silent exm239488 2 169404120 [C/G] NM_203463,NM_001256126 CERS6,CERS6 EXON Missense_P62R,Missense_P62R exm239494 2 169417757 [A/G] NM_203463,NM_001256126 CERS6,CERS6 EXON Missense_R111Q,Missense_R111Q exm239496 2 169417786 [T/C] NM_203463,NM_001256126 CERS6,CERS6 EXON Missense_R121C,Missense_R121C exm2265366 2 169439848 [A/G] NM_203463,NM_001256126 CERS6,CERS6 Silent,Silent exm239503 2 169547547 [T/C] NM_203463,NM_001256126 CERS6,CERS6 EXON Missense_P157S,Missense_P157S exm1989158 2 169659107 [T/C] NM_001171631,NM_001171632,NM_001039724,NM_052946 NOSTRIN,NOSTRIN,NOSTRIN,NOSTRIN EXON Silent,Silent,Silent,Silent exm1989160 2 169668122 [A/G] NM_001171631,NM_001171632,NM_001039724,NM_052946 NOSTRIN,NOSTRIN,NOSTRIN,NOSTRIN EXON Missense_E25K,Missense_E25K,Missense_E25K,Silent exm239537 2 169681199 [A/C] NM_001171631,NM_001171632,NM_001039724,NM_052946 NOSTRIN,NOSTRIN,NOSTRIN,NOSTRIN EXON Missense_S57R,Silent,Missense_S57R,Silent exm239545 2 169688021 [A/T] NM_001171631,NM_001171632,NM_001039724,NM_052946 NOSTRIN,NOSTRIN,NOSTRIN,NOSTRIN EXON Missense_S128C,Missense_S100C,Missense_S128C,Missense_S50C exm239550 2 169690831 [A/G] NM_001171631,NM_001171632,NM_001039724,NM_052946 NOSTRIN,NOSTRIN,NOSTRIN,NOSTRIN EXON Missense_R167Q,Missense_R139Q,Missense_R167Q,Missense_R89Q exm239559 2 169707428 [T/C] NM_001171631,NM_001171632,NM_001039724,NM_052946 NOSTRIN,NOSTRIN,NOSTRIN,NOSTRIN EXON Missense_T238I,Silent,Silent,Silent exm239561 2 169707455 [T/C] NM_001171631,NM_001171632,NM_001039724,NM_052946 NOSTRIN,NOSTRIN,NOSTRIN,NOSTRIN EXON Missense_L247P,Silent,Silent,Silent exm239562 2 169707506 [T/C] NM_001171631,NM_001171632,NM_001039724,NM_052946 NOSTRIN,NOSTRIN,NOSTRIN,NOSTRIN EXON Missense_V264A,Silent,Silent,Silent exm239564 2 169707596 [A/C] NM_001171631,NM_001171632,NM_001039724,NM_052946 NOSTRIN,NOSTRIN,NOSTRIN,NOSTRIN EXON Missense_S268R,Missense_S183R,Missense_S211R,Missense_S133R exm239568 2 169707877 [T/C] NM_001171631,NM_001171632,NM_001039724,NM_052946 NOSTRIN,NOSTRIN,NOSTRIN,NOSTRIN EXON Missense_T330I,Missense_T245I,Missense_T273I,Missense_T195I exm239577 2 169713267 [C/G] NM_001171631,NM_001171632,NM_001039724,NM_052946 NOSTRIN,NOSTRIN,NOSTRIN,NOSTRIN EXON Missense_D401E,Missense_D316E,Missense_D344E,Missense_D266E exm239580 2 169716050 [T/C] NM_001171631,NM_001171632,NM_001039724,NM_052946 NOSTRIN,NOSTRIN,NOSTRIN,NOSTRIN EXON Missense_A418V,Missense_A333V,Missense_A361V,Missense_A283V exm239584 2 169716098 [G/C] NM_001171631,NM_001171632,NM_001039724,NM_052946 NOSTRIN,NOSTRIN,NOSTRIN,NOSTRIN EXON Missense_P434R,Missense_P349R,Missense_P377R,Missense_P299R exm239588 2 169717335 [T/C] NM_001171631,NM_001171632,NM_001039724,NM_052946 NOSTRIN,NOSTRIN,NOSTRIN,NOSTRIN EXON Missense_R461W,Missense_R376W,Missense_R404W,Missense_R326W exm239590 2 169717378 [T/C] NM_001171631,NM_001171632,NM_001039724,NM_052946 NOSTRIN,NOSTRIN,NOSTRIN,NOSTRIN EXON Missense_A475V,Missense_A390V,Missense_A418V,Missense_A340V exm239591 2 169717417 [T/C] NM_001171631,NM_001171632,NM_001039724,NM_052946 NOSTRIN,NOSTRIN,NOSTRIN,NOSTRIN EXON Missense_P488L,Missense_P403L,Missense_P431L,Missense_P353L exm239600 2 169721377 [A/G] NM_001171631,NM_001171632,NM_001039724,NM_052946 NOSTRIN,NOSTRIN,NOSTRIN,NOSTRIN EXON Missense_G530E,Missense_G445E,Missense_G473E,Missense_G395E exm239613 2 169728042 [G/C] NM_020675 SPC25 EXON Missense_E192Q exm239621 2 169732622 [C/G] NM_020675 SPC25 EXON Missense_L137F exm239626 2 169733775 [T/G] NM_020675 SPC25 EXON Missense_K107Q exm239638 2 169757930 [T/C] NM_001081686,NM_021176 G6PC2,G6PC2 EXON Missense_S30F,Missense_S30F exm239639 2 169757953 [A/C] NM_001081686,NM_021176 G6PC2,G6PC2 EXON Missense_I38L,Missense_I38L exm239642 2 169758029 [T/C] NM_001081686,NM_021176 G6PC2,G6PC2 EXON Missense_I63T,Missense_I63T exm239643 2 169758044 [A/T] NM_001081686,NM_021176 G6PC2,G6PC2 EXON Missense_N68I,Missense_N68I exm239649 2 169761042 [T/C] NM_001081686,NM_021176 G6PC2,G6PC2 EXON Missense_A119V,Missense_A119V exm239650 2 169761057 [A/G] NM_001081686,NM_021176 G6PC2,G6PC2 EXON Missense_Y124C,Missense_Y124C exm-rs560887 2 169763148 [T/C] NM_001081686,NM_021176 G6PC2,G6PC2 Silent,Silent exm239662 2 169763244 [A/G] NM_001081686,NM_021176 G6PC2,G6PC2 EXON Silent,Missense_I171V exm239663 2 169763245 [T/C] NM_001081686,NM_021176 G6PC2,G6PC2 EXON Silent,Missense_I171T exm239664 2 169763262 [T/C] NM_001081686,NM_021176 G6PC2,G6PC2 EXON Silent,Missense_H177Y exm239667 2 169764141 [A/C] NM_001081686,NM_021176 G6PC2,G6PC2 EXON Silent,Missense_Y207S exm239672 2 169764176 [G/C] NM_001081686,NM_021176 G6PC2,G6PC2 EXON Silent,Missense_V219L exm239675 2 169764210 [T/C] NM_001081686,NM_021176 G6PC2,G6PC2 EXON Silent,Missense_I230T exm239682 2 169764269 [T/C] NM_001081686,NM_021176 G6PC2,G6PC2 EXON Silent,Missense_H250Y exm239684 2 169764287 [T/C] NM_001081686,NM_021176 G6PC2,G6PC2 EXON Silent,Missense_F256L exm239687 2 169764338 [A/G] NM_001081686,NM_021176 G6PC2,G6PC2 EXON Silent,Missense_I273V exm239690 2 169764368 [T/C] NM_001081686,NM_021176 G6PC2,G6PC2 EXON Silent,Nonsense_R283X exm239695 2 169764449 [T/C] NM_001081686,NM_021176 G6PC2,G6PC2 EXON Silent,Missense_L310F exm239697 2 169764459 [T/C] NM_001081686,NM_021176 G6PC2,G6PC2 EXON Silent,Missense_P313L exm239698 2 169764491 [T/C] NM_001081686,NM_021176 G6PC2,G6PC2 EXON Silent,Missense_S324P exm-rs563694 2 169774071 [A/C] exm239717 2 169781263 [C/G] NM_003742 ABCB11 EXON Missense_E1223D exm239721 2 169783728 [T/C] NM_003742 ABCB11 EXON Missense_E1186K exm239722 2 169783736 [A/G] NM_003742 ABCB11 EXON Missense_I1183T exm239723 2 169783760 [T/G] NM_003742 ABCB11 EXON Missense_K1175T exm239725 2 169783772 [A/G] NM_003742 ABCB11 EXON Missense_M1171T exm239740 2 169788930 [T/C] NM_003742 ABCB11 EXON Missense_R1057Q exm-rs552976 2 169791438 [A/G] NM_003742 ABCB11 Silent exm239752 2 169791823 [T/C] NM_003742 ABCB11 EXON Missense_Q976R exm239756 2 169791916 [T/C] NM_003742 ABCB11 EXON Missense_S945N exm239758 2 169792786 [A/G] NM_003742 ABCB11 EXON Missense_T923I exm1989238 2 169792926 [A/G] NM_003742 ABCB11 EXON Synonymous_I876I exm239762 2 169801116 [A/C] NM_003742 ABCB11 EXON Missense_G870V exm2236532 2 169801131 [A/G] NM_003742 ABCB11 EXON Missense_A865V exm239774 2 169814626 [A/G] NM_003742 ABCB11 EXON Missense_P731S exm239777 2 169820769 [T/C] NM_003742 ABCB11 EXON Missense_E709K exm239778 2 169820793 [A/G] NM_003742 ABCB11 EXON Missense_S701P exm239779 2 169820801 [T/C] NM_003742 ABCB11 EXON Missense_R698H exm239780 2 169820807 [T/C] NM_003742 ABCB11 EXON Missense_R696Q exm239781 2 169824976 [A/G] NM_003742 ABCB11 EXON Missense_A679V exm239782 2 169824983 [T/C] NM_003742 ABCB11 EXON Missense_M677V exm239792 2 169826590 [G/C] NM_003742 ABCB11 EXON Missense_E592Q exm239793 2 169826592 [T/C] NM_003742 ABCB11 EXON Missense_N591S exm1989250 2 169826640 [T/C] NM_003742 ABCB11 EXON Missense_R575Q exm239799 2 169828359 [T/G] NM_003742 ABCB11 EXON Missense_Q546K exm239800 2 169828367 [T/G] NM_003742 ABCB11 EXON Missense_D543A exm-rs2287623 2 169830155 [A/G] NM_003742 ABCB11 Silent exm239804 2 169830263 [T/G] NM_003742 ABCB11 EXON Missense_Q466K exm239806 2 169830328 [A/G] NM_003742 ABCB11 EXON Missense_V444A exm239832 2 169847329 [T/C] NM_003742 ABCB11 EXON Missense_E297G exm239835 2 169847368 [A/G] NM_003742 ABCB11 EXON Missense_V284A exm2273838 2 169850337 [A/G] NM_003742 ABCB11 EXON Missense_R223C exm239842 2 169850388 [T/C] NM_003742 ABCB11 EXON Missense_I206V exm239847 2 169851964 [T/C] NM_003742 ABCB11 EXON Missense_R169H exm239850 2 169853145 [T/C] NM_003742 ABCB11 EXON Synonymous_Q159Q exm239856 2 169869788 [T/C] NM_003742 ABCB11 EXON Missense_R128H exm2236535 2 169869888 [T/C] NM_003742 ABCB11 EXON Missense_V95I exm239861 2 169870004 [A/G] NM_003742 ABCB11 EXON Missense_S56L exm239865 2 169870836 [T/C] NM_003742 ABCB11 EXON Missense_V43I exm239879 2 169938144 [A/G] NM_005771,NM_199204,NM_001142270,NM_001142271 DHRS9,DHRS9,DHRS9,DHRS9 EXON Missense_R18H,Missense_R18H,Missense_R18H,Missense_R18H exm239880 2 169938171 [T/C] NM_005771,NM_199204,NM_001142270,NM_001142271 DHRS9,DHRS9,DHRS9,DHRS9 EXON Missense_I27T,Missense_I27T,Missense_I27T,Missense_I27T exm239886 2 169938323 [T/C] NM_005771,NM_199204,NM_001142270,NM_001142271 DHRS9,DHRS9,DHRS9,DHRS9 EXON Missense_R78C,Missense_R78C,Missense_R78C,Missense_R78C exm239887 2 169938347 [A/G] NM_005771,NM_199204,NM_001142270,NM_001142271 DHRS9,DHRS9,DHRS9,DHRS9 EXON Missense_D86N,Missense_D86N,Missense_D86N,Missense_D86N exm239888 2 169938367 [G/C] NM_005771,NM_199204,NM_001142270,NM_001142271 DHRS9,DHRS9,DHRS9,DHRS9 EXON Missense_R92S,Missense_R92S,Missense_R92S,Missense_R92S exm239890 2 169939868 [A/G] NM_005771,NM_199204,NM_001142270,NM_001142271 DHRS9,DHRS9,DHRS9,DHRS9 EXON Missense_V115I,Missense_V115I,Missense_V115I,Missense_V115I exm239891 2 169939874 [A/G] NM_005771,NM_199204,NM_001142270,NM_001142271 DHRS9,DHRS9,DHRS9,DHRS9 EXON Missense_G117S,Missense_G117S,Missense_G117S,Missense_G117S exm239893 2 169939914 [A/G] NM_005771,NM_199204,NM_001142270,NM_001142271 DHRS9,DHRS9,DHRS9,DHRS9 EXON Missense_Y130C,Missense_Y130C,Missense_Y130C,Missense_Y130C exm2236536 2 169940028 [A/G] NM_005771,NM_199204,NM_001142270,NM_001142271 DHRS9,DHRS9,DHRS9,DHRS9 EXON Missense_R168H,Missense_R168H,Missense_R168H,Missense_R168H exm239900 2 169940079 [A/G] NM_005771,NM_199204,NM_001142270,NM_001142271 DHRS9,DHRS9,DHRS9,DHRS9 EXON Missense_G185D,Missense_G185D,Missense_G185D,Missense_G185D exm239909 2 169952053 [C/G] NM_005771,NM_199204,NM_001142270,NM_001142271 DHRS9,DHRS9,DHRS9,DHRS9 Silent,Silent,Silent,Silent exm239911 2 169952084 [A/G] NM_005771,NM_199204,NM_001142270,NM_001142271 DHRS9,DHRS9,DHRS9,DHRS9 EXON Missense_Y256C,Missense_Y256C,Missense_Y256C,Missense_Y256C exm239916 2 169952138 [A/G] NM_005771,NM_199204,NM_001142270,NM_001142271 DHRS9,DHRS9,DHRS9,DHRS9 EXON Missense_S274N,Missense_S274N,Missense_S274N,Missense_S274N exm239921 2 169952252 [A/C] NM_005771,NM_199204,NM_001142270,NM_001142271 DHRS9,DHRS9,DHRS9,DHRS9 EXON Missense_E312A,Missense_E312A,Missense_E312A,Missense_E312A exm239928 2 169985220 [A/T] NM_004525 LRP2 EXON Missense_T4641S exm239931 2 169985261 [A/G] NM_004525 LRP2 EXON Missense_S4627L exm239937 2 169985338 [T/C] NM_004525 LRP2 EXON Missense_M4601I exm239941 2 169989127 [A/G] NM_004525 LRP2 EXON Missense_V4562A exm239944 2 169993912 [T/G] NM_004525 LRP2 EXON Missense_Q4537P exm239952 2 169996070 [T/C] NM_004525 LRP2 EXON Missense_G4417D exm239967 2 170002287 [T/C] NM_004525 LRP2 EXON Missense_I4320V exm239975 2 170003335 [T/C] NM_004525 LRP2 EXON Missense_D4242G exm239977 2 170003384 [T/C] NM_004525 LRP2 EXON Missense_E4226K exm239979 2 170003432 [T/G] NM_004525 LRP2 EXON Missense_I4210L exm239982 2 170007504 [A/C] NM_004525 LRP2 EXON Missense_R4165L exm239985 2 170009349 [T/C] NM_004525 LRP2 EXON Missense_V4141I exm239987 2 170009390 [T/C] NM_004525 LRP2 EXON Missense_R4127H exm239988 2 170009391 [T/G] NM_004525 LRP2 EXON Missense_R4127S exm239992 2 170010978 [A/G] NM_004525 LRP2 EXON Missense_I4096T exm239993 2 170010985 [T/C] NM_004525 LRP2 EXON Missense_K4094E exm239996 2 170011100 [G/C] NM_004525 LRP2 EXON Missense_L4055F exm239998 2 170012810 [T/C] NM_004525 LRP2 EXON Missense_R4042H exm240003 2 170013904 [A/C] NM_004525 LRP2 EXON Missense_V3999G exm240009 2 170018999 [A/G] NM_004525 LRP2 EXON Missense_S3957F exm240020 2 170022537 [T/C] NM_004525 LRP2 EXON Missense_R3888H exm240032 2 170026232 [A/G] NM_004525 LRP2 EXON Missense_A3826V exm2254771 2 170027119 [T/C] NM_004525 LRP2 EXON Synonymous_S3774S exm240046 2 170029657 [T/C] NM_004525 LRP2 EXON Missense_V3698M exm240052 2 170030506 [T/C] NM_004525 LRP2 EXON Missense_R3646H exm240056 2 170030563 [A/C] NM_004525 LRP2 EXON Missense_S3627I exm240059 2 170030639 [T/C] NM_004525 LRP2 EXON Missense_A3602T exm240075 2 170033089 [A/G] NM_004525 LRP2 EXON Missense_P3468L exm240077 2 170034424 [T/C] NM_004525 LRP2 EXON Missense_R3428G exm240081 2 170034495 [A/T] NM_004525 LRP2 EXON Missense_D3404V exm240084 2 170037962 [T/C] NM_004525 LRP2 EXON Missense_I3389V exm240085 2 170037983 [T/C] NM_004525 LRP2 EXON Missense_A3382T exm240087 2 170038097 [T/C] NM_004525 LRP2 EXON Missense_A3344T exm240096 2 170038761 [T/C] NM_004525 LRP2 EXON Missense_R3305H exm240098 2 170038780 [A/G] NM_004525 LRP2 EXON Missense_L3299F exm240104 2 170042208 [T/C] NM_004525 LRP2 EXON Missense_Y3217C exm240106 2 170042241 [T/C] NM_004525 LRP2 EXON Missense_R3206H exm240112 2 170042381 [T/C] NM_004525 LRP2 EXON Missense_M3159I exm240113 2 170042445 [T/C] NM_004525 LRP2 EXON Missense_R3138H exm240135 2 170044768 [A/G] NM_004525 LRP2 EXON Missense_R3014W exm240153 2 170053505 [T/C] NM_004525 LRP2 EXON Missense_A2872T exm240160 2 170055359 [T/C] NM_004525 LRP2 EXON Missense_V2839I exm240166 2 170055416 [T/G] NM_004525 LRP2 EXON Missense_R2820S exm240169 2 170058290 [T/C] NM_004525 LRP2 EXON Missense_G2767D exm240179 2 170059298 [G/C] NM_004525 LRP2 EXON Missense_G2726A exm240181 2 170059343 [T/C] NM_004525 LRP2 EXON Missense_R2711H exm240189 2 170060512 [G/C] NM_004525 LRP2 EXON Missense_C2662S exm240194 2 170060579 [T/C] NM_004525 LRP2 EXON Missense_I2640V exm240196 2 170060603 [T/C] NM_004525 LRP2 EXON Missense_N2632D exm240198 2 170060750 [T/C] NM_004525 LRP2 EXON Missense_V2583M exm240201 2 170060776 [G/C] NM_004525 LRP2 EXON Missense_R2574T exm240208 2 170062118 [T/C] NM_004525 LRP2 EXON Missense_H2529R exm240214 2 170062590 [T/C] NM_004525 LRP2 EXON Missense_R2500H exm240219 2 170062683 [T/C] NM_004525 LRP2 EXON Missense_D2469G exm240225 2 170062977 [T/C] NM_004525 LRP2 EXON Missense_E2418G exm240226 2 170062987 [T/C] NM_004525 LRP2 EXON Missense_I2415V exm240228 2 170063223 [T/C] NM_004525 LRP2 EXON Missense_R2336Q exm240229 2 170063224 [A/G] NM_004525 LRP2 EXON Missense_R2336W exm240232 2 170063275 [T/C] NM_004525 LRP2 EXON Missense_N2319D exm240237 2 170063292 [A/G] NM_004525 LRP2 EXON Missense_P2313L exm240241 2 170063372 [T/A] NM_004525 LRP2 EXON Missense_F2286L exm240242 2 170063380 [T/C] NM_004525 LRP2 EXON Missense_T2284A exm240256 2 170063677 [A/G] NM_004525 LRP2 EXON Missense_L2185F exm240257 2 170063685 [T/C] NM_004525 LRP2 EXON Missense_R2182H exm240261 2 170063757 [T/G] NM_004525 LRP2 EXON Missense_N2158T exm240271 2 170068502 [T/A] NM_004525 LRP2 EXON Missense_T2086S exm240273 2 170068564 [A/G] NM_004525 LRP2 EXON Missense_I2065T exm240274 2 170068582 [A/G] NM_004525 LRP2 EXON Missense_S2059F exm240275 2 170068598 [T/C] NM_004525 LRP2 EXON Missense_D2054N exm240278 2 170068652 [T/C] NM_004525 LRP2 EXON Missense_V2036I exm240285 2 170070169 [T/C] NM_004525 LRP2 EXON Missense_R2013H exm240286 2 170070172 [T/C] NM_004525 LRP2 EXON Missense_R2012K exm240302 2 170072852 [G/C] NM_004525 LRP2 EXON Missense_L1913V exm240304 2 170072887 [C/G] NM_004525 LRP2 EXON Missense_A1901G exm2263917 2 170073905 [A/C] NM_004525 LRP2 Silent exm240317 2 170082936 [T/C] NM_004525 LRP2 EXON Missense_N1797S exm240321 2 170083026 [T/C] NM_004525 LRP2 EXON Missense_S1767N exm240322 2 170083033 [T/C] NM_004525 LRP2 EXON Missense_V1765M exm240327 2 170088242 [A/G] NM_004525 LRP2 EXON Missense_L1737F exm240330 2 170088344 [A/G] NM_004525 LRP2 EXON Missense_P1703S exm240331 2 170088351 [A/G] NM_004525 LRP2 EXON Synonymous_S1700S exm240333 2 170089947 [A/G] NM_004525 LRP2 EXON Missense_A1691V exm240334 2 170089977 [T/C] NM_004525 LRP2 EXON Missense_Y1681C exm240336 2 170090014 [T/C] NM_004525 LRP2 EXON Missense_N1669D exm240342 2 170090095 [T/C] NM_004525 LRP2 EXON Missense_I1642V exm240354 2 170093742 [T/C] NM_004525 LRP2 EXON Missense_R1521H exm240362 2 170094756 [A/C] NM_004525 LRP2 EXON Missense_V1451F exm240370 2 170096097 [A/G] NM_004525 LRP2 EXON Missense_R1412W exm240379 2 170097611 [T/C] NM_004525 LRP2 EXON Missense_R1311H exm240384 2 170097707 [T/G] NM_004525 LRP2 EXON Missense_D1279A exm240393 2 170099474 [A/G] NM_004525 LRP2 EXON Missense_A1220V exm240397 2 170099526 [T/C] NM_004525 LRP2 EXON Missense_V1203I exm240404 2 170100011 [A/G] NM_004525 LRP2 EXON Missense_P1151L exm240407 2 170100029 [A/G] NM_004525 LRP2 EXON Missense_S1145L exm240412 2 170101269 [T/C] NM_004525 LRP2 EXON Missense_I1122V exm240413 2 170101278 [T/G] NM_004525 LRP2 EXON Missense_H1119N exm240416 2 170101322 [T/C] NM_004525 LRP2 EXON Missense_H1104R exm240427 2 170103277 [T/C] NM_004525 LRP2 EXON Missense_Y1043C exm240428 2 170103283 [T/C] NM_004525 LRP2 EXON Missense_N1041S exm240430 2 170103295 [T/C] NM_004525 LRP2 EXON Missense_R1037K exm240431 2 170103305 [T/C] NM_004525 LRP2 EXON Missense_K1034E exm240449 2 170112660 [T/C] NM_004525 LRP2 EXON Missense_H909R exm240454 2 170113670 [G/C] NM_004525 LRP2 EXON Missense_T868S exm1989489 2 170113674 [T/C] NM_004525 LRP2 EXON Missense_T867A exm240462 2 170115592 [T/C] NM_004525 LRP2 EXON Missense_R819H exm240475 2 170127524 [A/G] NM_004525 LRP2 EXON Missense_S737L exm240485 2 170129490 [T/C] NM_004525 LRP2 EXON Missense_R688H exm240489 2 170129529 [A/G] NM_004525 LRP2 EXON Missense_V675A exm-rs830998 2 170133086 [A/C] NM_004525 LRP2 Silent exm240506 2 170135892 [A/G] NM_004525 LRP2 EXON Missense_P519S exm240507 2 170135945 [T/C] NM_004525 LRP2 EXON Missense_R501Q exm240511 2 170136059 [T/C] NM_004525 LRP2 EXON Missense_N463S exm240513 2 170136101 [T/A] NM_004525 LRP2 EXON Missense_F449Y exm240515 2 170136871 [T/C] NM_004525 LRP2 EXON Missense_V444M exm240519 2 170137012 [T/C] NM_004525 LRP2 EXON Missense_I397V exm240523 2 170139387 [A/C] NM_004525 LRP2 EXON Missense_D389E exm240525 2 170139452 [A/G] NM_004525 LRP2 EXON Missense_R368C exm2273840 2 170147414 [T/C] NM_004525 LRP2 EXON Missense_G288E exm240539 2 170147502 [C/G] NM_004525 LRP2 EXON Missense_G259R exm1989526 2 170148844 [G/C] NM_004525 LRP2 EXON Missense_P230A exm-rs830964 2 170156880 [T/C] NM_004525 LRP2 Silent exm240554 2 170163827 [T/C] NM_004525 LRP2 EXON Missense_R131G exm240563 2 170175334 [T/C] NM_004525 LRP2 EXON Missense_N83S exm240564 2 170175352 [T/A] NM_004525 LRP2 EXON Missense_E77V exm240566 2 170175394 [A/G] NM_004525 LRP2 EXON Missense_A63V exm240568 2 170177305 [A/C] NM_004525 LRP2 EXON Missense_A57S exm240574 2 170177382 [A/G] NM_004525 LRP2 EXON Missense_A31V exm240590 2 170336095 [A/G] NM_152384 BBS5 EXON Missense_R11Q exm240610 2 170350279 [A/G] NM_152384 BBS5 EXON Missense_N184S exm240611 2 170350312 [A/G] NM_152384 BBS5 EXON Missense_D195G exm240615 2 170354138 [A/G] NM_152384 BBS5 EXON Missense_R207H exm240625 2 170356065 [A/G] NM_152384 BBS5 EXON Missense_N251D exm240639 2 170366296 [T/C] NM_006063 KLHL41 EXON Missense_S3F exm240647 2 170366485 [T/C] NM_006063 KLHL41 EXON Missense_I66T exm240657 2 170366686 [A/G] NM_006063 KLHL41 EXON Missense_G133D exm1989570 2 170366869 [A/C] NM_006063 KLHL41 EXON Missense_E194A exm240668 2 170366940 [A/G] NM_006063 KLHL41 EXON Missense_V218M exm240673 2 170367099 [A/G] NM_006063 KLHL41 EXON Missense_A271T exm240674 2 170367120 [A/G] NM_006063 KLHL41 EXON Missense_V278M exm240675 2 170367151 [T/G] NM_006063 KLHL41 EXON Missense_L288R exm240677 2 170367201 [T/C] NM_006063 KLHL41 EXON Missense_L305F exm240686 2 170371159 [T/G] NM_006063 KLHL41 EXON Missense_V396L exm240696 2 170374764 [A/G] NM_006063 KLHL41 EXON Missense_M481V exm1989581 2 170382097 [A/G] NM_006063 KLHL41 EXON Missense_Y571C exm240714 2 170386346 [A/G] NM_024622 FASTKD1 EXON Missense_S845P exm240720 2 170386400 [T/C] NM_024622 FASTKD1 EXON Missense_T827A exm240721 2 170387098 [T/C] NM_024622 FASTKD1 EXON Missense_Q814R exm240729 2 170387886 [G/C] NM_024622 FASTKD1 EXON Nonsense_S768X exm240732 2 170387940 [A/G] NM_024622 FASTKD1 EXON Missense_A750V exm240734 2 170387949 [T/C] NM_024622 FASTKD1 EXON Missense_H747R exm240739 2 170393737 [T/C] NM_024622 FASTKD1 EXON Missense_D730N exm240740 2 170393757 [A/G] NM_024622 FASTKD1 EXON Missense_T723M exm240752 2 170401248 [A/T] NM_024622 FASTKD1 EXON Missense_H600L exm240753 2 170401249 [C/G] NM_024622 FASTKD1 EXON Missense_H600D exm240762 2 170402778 [T/C] NM_024622 FASTKD1 EXON Missense_T551A exm240770 2 170402937 [C/G] NM_024622 FASTKD1 EXON Missense_D498H exm240775 2 170403030 [T/C] NM_024622 FASTKD1 EXON Missense_M467V exm1989605 2 170403200 [A/C] NM_024622 FASTKD1 EXON Missense_S410I exm240788 2 170411698 [C/G] NM_024622 FASTKD1 EXON Missense_E384Q exm1989611 2 170413751 [A/G] NM_024622 FASTKD1 EXON Missense_A343V exm2254776 2 170419764 [A/G] NM_024622 FASTKD1 EXON Synonymous_H181H exm240815 2 170428176 [A/G] NM_024622 FASTKD1 EXON Missense_Y122H exm240821 2 170428350 [A/C] NM_024622 FASTKD1 EXON Missense_S64A exm240824 2 170428379 [T/C] NM_024622 FASTKD1 EXON Missense_G54D exm240826 2 170428403 [T/C] NM_024622 FASTKD1 EXON Missense_C46Y exm240827 2 170428406 [T/G] NM_024622 FASTKD1 EXON Missense_K45T exm240828 2 170428436 [T/C] NM_024622 FASTKD1 EXON Missense_S35N exm-IND2-170149145 2 170440900 [I/D] NM_004792 PPIG EXON exm240838 2 170441001 [A/G] NM_004792 PPIG Silent exm240839 2 170460536 [A/C] NM_004792 PPIG EXON Silent exm240853 2 170463657 [A/G] NM_004792 PPIG EXON Synonymous_E96E exm240855 2 170465182 [T/C] NM_004792 PPIG EXON Synonymous_D97D exm240864 2 170487425 [A/G] NM_004792 PPIG EXON Missense_R230K exm240871 2 170488283 [A/G] NM_004792 PPIG EXON Missense_S257G exm240898 2 170493103 [A/T] NM_004792 PPIG EXON Missense_D445E exm240914 2 170493546 [A/C] NM_004792 PPIG EXON Missense_Y593S exm240915 2 170493567 [G/C] NM_004792 PPIG EXON Missense_R600T exm240917 2 170493597 [C/G] NM_004792 PPIG EXON Missense_R610T exm240918 2 170493599 [A/C] NM_004792 PPIG EXON Missense_T611P exm240920 2 170493677 [G/C] NM_004792 PPIG EXON Missense_Q637E exm240922 2 170493741 [T/C] NM_004792 PPIG EXON Missense_S658F exm240923 2 170493774 [A/G] NM_004792 PPIG EXON Missense_R669H exm240927 2 170493834 [T/C] NM_004792 PPIG EXON Missense_F689S exm240928 2 170493863 [A/G] NM_004792 PPIG EXON Missense_N699D exm240933 2 170502355 [T/C] NM_001085447 CCDC173 EXON Nonsense_W552X exm240935 2 170502401 [A/G] NM_001085447 CCDC173 EXON Missense_P537S exm240939 2 170502509 [A/G] NM_001085447 CCDC173 EXON Missense_P501S exm240947 2 170505700 [G/C] NM_001085447 CCDC173 EXON Missense_Q437E exm240949 2 170505727 [T/G] NM_001085447 CCDC173 EXON Missense_H428N exm240950 2 170505754 [C/G] NM_001085447 CCDC173 EXON Missense_E419Q exm240951 2 170505795 [C/G] NM_001085447 CCDC173 EXON Missense_A405G exm240952 2 170505822 [T/C] NM_001085447 CCDC173 EXON Missense_K396R exm240953 2 170505823 [T/G] NM_001085447 CCDC173 EXON Missense_K396Q exm240958 2 170506961 [A/C] NM_001085447 CCDC173 EXON Nonsense_E344X exm240962 2 170507027 [T/A] NM_001085447 CCDC173 EXON Missense_M322L exm240963 2 170510651 [T/C] NM_001085447 CCDC173 EXON Missense_R298K exm240970 2 170531162 [T/C] NM_001085447 CCDC173 EXON Missense_A196T exm240984 2 170537675 [T/G] NM_001085447 CCDC173 EXON Missense_Q46K exm240986 2 170550809 [A/C] NM_001085447 CCDC173 EXON Missense_R10L exm240990 2 170557567 [A/G] NM_001008489,NM_001199288,NM_001199285,NM_001199287,NM_001199290,NM_001199286 PHOSPHO2,PHOSPHO2,PHOSPHO2,PHOSPHO2,PHOSPHO2-KLHL23,PHOSPHO2 EXON Missense_K29R,Missense_K29R,Missense_K29R,Missense_K29R,Silent,Missense_K29R exm240991 2 170557576 [T/C] NM_001008489,NM_001199288,NM_001199285,NM_001199287,NM_001199290,NM_001199286 PHOSPHO2,PHOSPHO2,PHOSPHO2,PHOSPHO2,PHOSPHO2-KLHL23,PHOSPHO2 EXON Missense_P32L,Missense_P32L,Missense_P32L,Missense_P32L,Silent,Missense_P32L exm240992 2 170557656 [C/G] NM_001008489,NM_001199288,NM_001199285,NM_001199287,NM_001199290,NM_001199286 PHOSPHO2,PHOSPHO2,PHOSPHO2,PHOSPHO2,PHOSPHO2-KLHL23,PHOSPHO2 EXON Missense_G59R,Missense_G59R,Missense_G59R,Missense_G59R,Silent,Missense_G59R exm240993 2 170557667 [A/C] NM_001008489,NM_001199288,NM_001199285,NM_001199287,NM_001199290,NM_001199286 PHOSPHO2,PHOSPHO2,PHOSPHO2,PHOSPHO2,PHOSPHO2-KLHL23,PHOSPHO2 EXON Missense_E62D,Missense_E62D,Missense_E62D,Missense_E62D,Silent,Missense_E62D exm241009 2 170558097 [A/G] NM_001008489,NM_001199288,NM_001199285,NM_001199287,NM_001199290,NM_001199286 PHOSPHO2,PHOSPHO2,PHOSPHO2,PHOSPHO2,PHOSPHO2-KLHL23,PHOSPHO2 EXON Missense_K206E,Missense_K206E,Missense_K206E,Missense_K206E,Silent,Missense_K206E exm241013 2 170558202 [T/G] NM_001008489,NM_001199288,NM_001199285,NM_001199287,NM_001199290,NM_001199286 PHOSPHO2,PHOSPHO2,PHOSPHO2,PHOSPHO2,PHOSPHO2-KLHL23,PHOSPHO2 EXON Missense_D241Y,Missense_D241Y,Missense_D241Y,Missense_D241Y,Silent,Missense_D241Y exm241020 2 170591606 [A/T] NM_001199290,NM_144711 PHOSPHO2-KLHL23,KLHL23 EXON Missense_T28S,Missense_T28S exm241025 2 170591806 [T/C] NM_001199290,NM_144711 PHOSPHO2-KLHL23,KLHL23 EXON Synonymous_Y94Y,Synonymous_Y94Y exm241033 2 170592174 [A/G] NM_001199290,NM_144711 PHOSPHO2-KLHL23,KLHL23 EXON Missense_E217G,Missense_E217G exm241040 2 170592315 [A/G] NM_001199290,NM_144711 PHOSPHO2-KLHL23,KLHL23 EXON Missense_H264R,Missense_H264R exm241066 2 170606024 [C/G] NM_001199290,NM_144711 PHOSPHO2-KLHL23,KLHL23 EXON Missense_E487Q,Missense_E487Q exm241068 2 170606069 [A/G] NM_001199290,NM_144711 PHOSPHO2-KLHL23,KLHL23 EXON Missense_G502S,Missense_G502S exm241072 2 170606220 [A/G] NM_001199290,NM_144711 PHOSPHO2-KLHL23,KLHL23 EXON Missense_C552Y,Missense_C552Y exm2254779 2 170662217 [A/G] NM_003142 SSB EXON Synonymous_A71A exm241091 2 170663340 [T/A] NM_003142 SSB EXON Missense_L131I exm241106 2 170665393 [T/C] NM_003142 SSB EXON Missense_L217S exm241107 2 170665400 [A/T] NM_003142 SSB EXON Missense_E219D exm241108 2 170665402 [A/C] NM_003142 SSB EXON Missense_D220A exm241144 2 170668977 [T/C] NM_014168 METTL5 EXON Missense_K194R exm2269171 2 170675765 [T/C] NM_014168 METTL5 Silent exm241152 2 170676105 [A/G] NM_014168 METTL5 EXON Missense_A152V exm241154 2 170676144 [A/G] NM_014168 METTL5 EXON Missense_M139T exm241160 2 170677752 [T/C] NM_014168 METTL5 EXON Missense_A86T exm2236570 2 170770601 [T/G] NM_172070 UBR3 EXON Missense_R604I exm241200 2 170789517 [T/C] NM_172070 UBR3 EXON Missense_F888L exm241210 2 170806481 [T/C] NM_172070 UBR3 EXON Missense_R1151C exm241232 2 170857923 [A/G] NM_172070 UBR3 EXON Missense_R1343Q exm241241 2 170865369 [A/C] NM_172070 UBR3 EXON Missense_T1429N exm241253 2 170885930 [A/C] NM_172070 UBR3 EXON Missense_L1510I exm241255 2 170897489 [T/C] NM_172070 UBR3 EXON Missense_R1552C exm241261 2 170917590 [A/G] NM_172070 UBR3 EXON Missense_S1596N exm241288 2 171055752 [A/G] NR_045684,NM_138995,NR_045683,NR_045682,NM_001083615 MYO3B,MYO3B,MYO3B,MYO3B,MYO3B EXON Silent,Missense_M13V,Silent,Silent,Missense_M13V exm241299 2 171056754 [T/C] NR_045684,NM_138995,NR_045683,NR_045682,NM_001083615 MYO3B,MYO3B,MYO3B,MYO3B,MYO3B EXON Silent,Missense_A94V,Silent,Silent,Missense_A94V exm241303 2 171070907 [T/G] NR_045684,NM_138995,NR_045683,NR_045682,NM_001083615 MYO3B,MYO3B,MYO3B,MYO3B,MYO3B EXON Silent,Missense_V114F,Silent,Silent,Missense_V114F exm241306 2 171070946 [T/C] NR_045684,NM_138995,NR_045683,NR_045682,NM_001083615 MYO3B,MYO3B,MYO3B,MYO3B,MYO3B EXON Silent,Missense_R127W,Silent,Silent,Missense_R127W exm241308 2 171070979 [T/A] NR_045684,NM_138995,NR_045683,NR_045682,NM_001083615 MYO3B,MYO3B,MYO3B,MYO3B,MYO3B EXON Silent,Missense_Y138N,Silent,Silent,Missense_Y138N exm241309 2 171070982 [A/G] NR_045684,NM_138995,NR_045683,NR_045682,NM_001083615 MYO3B,MYO3B,MYO3B,MYO3B,MYO3B EXON Silent,Missense_G139R,Silent,Silent,Missense_G139R exm241315 2 171071332 [T/G] NR_045684,NM_138995,NR_045683,NR_045682,NM_001083615 MYO3B,MYO3B,MYO3B,MYO3B,MYO3B EXON Silent,Missense_D174Y,Silent,Silent,Missense_D174Y exm241324 2 171092612 [A/G] NR_045684,NM_138995,NR_045683,NR_045682,NM_001083615 MYO3B,MYO3B,MYO3B,MYO3B,MYO3B EXON Silent,Missense_M239V,Silent,Silent,Missense_M239V exm241326 2 171191899 [T/C] NR_045684,NM_138995,NR_045683,NR_045682,NM_001083615 MYO3B,MYO3B,MYO3B,MYO3B,MYO3B EXON Silent,Missense_P252S,Silent,Silent,Missense_P252S exm241327 2 171191945 [A/G] NR_045684,NM_138995,NR_045683,NR_045682,NM_001083615 MYO3B,MYO3B,MYO3B,MYO3B,MYO3B EXON Silent,Missense_N267S,Silent,Silent,Missense_N267S exm2265367 2 171219055 [A/G] NR_045684,NM_138995,NR_045683,NR_045682,NM_001083615 MYO3B,MYO3B,MYO3B,MYO3B,MYO3B Silent,Silent,Silent,Silent,Silent exm241330 2 171225767 [T/C] NR_045684,NM_138995,NR_045683,NR_045682,NM_001083615 MYO3B,MYO3B,MYO3B,MYO3B,MYO3B EXON Silent,Missense_V284A,Silent,Silent,Missense_V284A exm241333 2 171225841 [A/G] NR_045684,NM_138995,NR_045683,NR_045682,NM_001083615 MYO3B,MYO3B,MYO3B,MYO3B,MYO3B EXON Silent,Missense_K309E,Silent,Silent,Missense_K309E exm2236576 2 171225850 [T/C] NR_045684,NM_138995,NR_045683,NR_045682,NM_001083615 MYO3B,MYO3B,MYO3B,MYO3B,MYO3B EXON Silent,Nonsense_Q312X,Silent,Silent,Nonsense_Q312X exm241336 2 171238608 [C/G] NR_045684,NM_138995,NR_045683,NR_045682,NM_001083615 MYO3B,MYO3B,MYO3B,MYO3B,MYO3B EXON Silent,Missense_E352Q,Silent,Silent,Missense_E352Q exm241339 2 171239611 [A/G] NR_045684,NM_138995,NR_045683,NR_045682,NM_001083615 MYO3B,MYO3B,MYO3B,MYO3B,MYO3B EXON Silent,Missense_R366H,Silent,Silent,Missense_R366H exm2273841 2 171239677 [A/G] NR_045684,NM_138995,NR_045683,NR_045682,NM_001083615 MYO3B,MYO3B,MYO3B,MYO3B,MYO3B EXON Silent,Missense_N388S,Silent,Silent,Missense_N388S exm241343 2 171240248 [A/G] NR_045684,NM_138995,NR_045683,NR_045682,NM_001083615 MYO3B,MYO3B,MYO3B,MYO3B,MYO3B EXON Silent,Missense_R405H,Silent,Silent,Missense_R405H exm1989796 2 171243679 [A/G] NR_045684,NM_138995,NR_045683,NR_045682,NM_001083615 MYO3B,MYO3B,MYO3B,MYO3B,MYO3B EXON Silent,Missense_N480D,Silent,Silent,Missense_N480D exm241363 2 171248112 [A/G] NR_045684,NM_138995,NR_045683,NR_045682,NM_001083615 MYO3B,MYO3B,MYO3B,MYO3B,MYO3B EXON Silent,Missense_E554K,Silent,Silent,Missense_E554K exm241366 2 171248961 [A/G] NR_045684,NM_138995,NR_045683,NR_045682,NM_001083615 MYO3B,MYO3B,MYO3B,MYO3B,MYO3B EXON Silent,Missense_E583K,Silent,Silent,Missense_E583K exm241373 2 171256771 [T/C] NR_045684,NM_138995,NR_045683,NR_045682,NM_001083615 MYO3B,MYO3B,MYO3B,MYO3B,MYO3B EXON Silent,Missense_S622F,Silent,Silent,Missense_S622F exm241375 2 171257991 [T/C] NR_045684,NM_138995,NR_045683,NR_045682,NM_001083615 MYO3B,MYO3B,MYO3B,MYO3B,MYO3B EXON Silent,Missense_A640V,Silent,Silent,Missense_A640V exm1989804 2 171258164 [T/C] NR_045684,NM_138995,NR_045683,NR_045682,NM_001083615 MYO3B,MYO3B,MYO3B,MYO3B,MYO3B EXON Silent,Missense_R698C,Silent,Silent,Missense_R698C exm241392 2 171260787 [A/G] NR_045684,NM_138995,NR_045683,NR_045682,NM_001083615 MYO3B,MYO3B,MYO3B,MYO3B,MYO3B EXON Silent,Missense_V770I,Silent,Silent,Missense_V770I exm241393 2 171260797 [A/G] NR_045684,NM_138995,NR_045683,NR_045682,NM_001083615 MYO3B,MYO3B,MYO3B,MYO3B,MYO3B EXON Silent,Missense_E773G,Silent,Silent,Missense_E773G exm241397 2 171260887 [A/G] NR_045684,NM_138995,NR_045683,NR_045682,NM_001083615 MYO3B,MYO3B,MYO3B,MYO3B,MYO3B EXON Silent,Missense_Q803R,Silent,Silent,Missense_Q803R exm1989809 2 171260910 [T/G] NR_045684,NM_138995,NR_045683,NR_045682,NM_001083615 MYO3B,MYO3B,MYO3B,MYO3B,MYO3B EXON Silent,Missense_D811Y,Silent,Silent,Missense_D811Y exm241422 2 171323116 [A/G] NR_045684,NM_138995,NR_045683,NR_045682,NM_001083615 MYO3B,MYO3B,MYO3B,MYO3B,MYO3B EXON Silent,Missense_R970Q,Silent,Silent,Missense_R970Q exm241427 2 171323175 [T/C] NR_045684,NM_138995,NR_045683,NR_045682,NM_001083615 MYO3B,MYO3B,MYO3B,MYO3B,MYO3B EXON Silent,Missense_R990C,Silent,Silent,Missense_R990C exm2236581 2 171356211 [T/C] NR_045684,NM_138995,NR_045683,NR_045682,NM_001083615 MYO3B,MYO3B,MYO3B,MYO3B,MYO3B EXON Silent,Missense_I1061T,Silent,Silent,Missense_I1061T exm241435 2 171356232 [A/G] NR_045684,NM_138995,NR_045683,NR_045682,NM_001083615 MYO3B,MYO3B,MYO3B,MYO3B,MYO3B EXON Silent,Missense_Q1068R,Silent,Silent,Missense_Q1068R exm241436 2 171356274 [A/G] NR_045684,NM_138995,NR_045683,NR_045682,NM_001083615 MYO3B,MYO3B,MYO3B,MYO3B,MYO3B EXON Silent,Missense_R1082K,Silent,Silent,Missense_R1082K exm241438 2 171358299 [A/G] NR_045684,NM_138995,NR_045683,NR_045682,NM_001083615 MYO3B,MYO3B,MYO3B,MYO3B,MYO3B EXON Silent,Nonsense_W1098X,Silent,Silent,Silent exm241439 2 171358311 [A/T] NR_045684,NM_138995,NR_045683,NR_045682,NM_001083615 MYO3B,MYO3B,MYO3B,MYO3B,MYO3B EXON Silent,Missense_D1102E,Silent,Silent,Silent exm241441 2 171358372 [T/G] NR_045684,NM_138995,NR_045683,NR_045682,NM_001083615 MYO3B,MYO3B,MYO3B,MYO3B,MYO3B EXON Silent,Missense_A1123S,Silent,Silent,Silent exm241444 2 171371469 [A/G] NR_045684,NM_138995,NR_045683,NR_045682,NM_001083615 MYO3B,MYO3B,MYO3B,MYO3B,MYO3B EXON Silent,Missense_V1137I,Silent,Silent,Missense_V1110I exm241450 2 171371514 [A/G] NR_045684,NM_138995,NR_045683,NR_045682,NM_001083615 MYO3B,MYO3B,MYO3B,MYO3B,MYO3B EXON Silent,Missense_E1152K,Silent,Silent,Missense_E1125K exm241455 2 171375968 [T/C] NR_045684,NM_138995,NR_045683,NR_045682,NM_001083615 MYO3B,MYO3B,MYO3B,MYO3B,MYO3B EXON Silent,Missense_R1165C,Silent,Silent,Missense_R1138C exm241459 2 171376005 [A/G] NR_045684,NM_138995,NR_045683,NR_045682,NM_001083615 MYO3B,MYO3B,MYO3B,MYO3B,MYO3B EXON Silent,Missense_R1177H,Silent,Silent,Missense_R1150H exm241467 2 171399430 [A/G] NR_045684,NM_138995,NR_045683,NR_045682,NM_001083615 MYO3B,MYO3B,MYO3B,MYO3B,MYO3B EXON Silent,Missense_Q1197R,Silent,Silent,Missense_Q1170R exm241468 2 171399449 [T/C] NR_045684,NM_138995,NR_045683,NR_045682,NM_001083615 MYO3B,MYO3B,MYO3B,MYO3B,MYO3B EXON Silent,Synonymous_C1203C,Silent,Silent,Synonymous_C1176C exm241471 2 171400449 [T/C] NR_045684,NM_138995,NR_045683,NR_045682,NM_001083615 MYO3B,MYO3B,MYO3B,MYO3B,MYO3B EXON Silent,Synonymous_P1228P,Silent,Silent,Synonymous_P1201P exm241482 2 171508618 [A/G] NR_045684,NM_138995,NR_045683,NR_045682,NM_001083615 MYO3B,MYO3B,MYO3B,MYO3B,MYO3B EXON Silent,Missense_G1281R,Silent,Silent,Missense_G1254R exm241488 2 171509593 [A/T] NR_045684,NM_138995,NR_045683,NR_045682,NM_001083615 MYO3B,MYO3B,MYO3B,MYO3B,MYO3B EXON Silent,Missense_S1330T,Silent,Silent,Missense_S1303T exm-rs2080401 2 171540823 [A/C] exm2269172 2 171565376 [T/C] exm241512 2 171573129 [C/G] NM_001003845 SP5 EXON Missense_L138V exm241542 2 171675181 [A/C] NM_013445,NM_000817 GAD1,GAD1 EXON Missense_T27K,Missense_T27K exm241549 2 171686088 [A/C] NM_013445,NM_000817 GAD1,GAD1 EXON Missense_D83E,Missense_D83E exm241551 2 171686104 [T/C] NM_013445,NM_000817 GAD1,GAD1 EXON Missense_R89W,Missense_R89W exm241556 2 171687535 [A/T] NM_013445,NM_000817 GAD1,GAD1 EXON Missense_Y127F,Missense_Y127F exm241562 2 171687639 [C/G] NM_013445,NM_000817 GAD1,GAD1 EXON Missense_P162A,Missense_P162A exm241571 2 171700598 [A/C] NM_000817 GAD1 EXON Missense_I228L exm1989895 2 171709291 [A/G] NM_000817 GAD1 EXON Missense_V418I exm241614 2 171715387 [A/G] NM_000817 GAD1 EXON Missense_R532Q exm-rs4668338 2 171733225 [C/G] exm241661 2 171818244 [C/G] NM_001201428,NM_015530 GORASP2,GORASP2 EXON Missense_A231P,Missense_A299P exm-rs4668356 2 171822466 [T/C] NM_001201428,NM_015530 GORASP2,GORASP2 EXON Synonymous_S327S,Synonymous_S395S exm2236586 2 171822494 [T/G] NM_001201428,NM_015530 GORASP2,GORASP2 EXON Missense_D337Y,Missense_D405Y exm241678 2 171822525 [T/C] NM_001201428,NM_015530 GORASP2,GORASP2 EXON Missense_T347M,Missense_T415M exm241681 2 171822576 [T/C] NM_001201428,NM_015530 GORASP2,GORASP2 EXON Missense_S364F,Missense_S432F exm241682 2 171822590 [A/G] NM_001201428,NM_015530 GORASP2,GORASP2 EXON Missense_E369K,Missense_E437K exm2263958 2 171831197 [A/C] exm241713 2 171871416 [T/C] NM_001136555,NM_012290,NM_001136554 TLK1,TLK1,TLK1 EXON Missense_V331I,Missense_V427I,Missense_V379I exm241738 2 171911672 [T/C] NM_001136555,NM_012290,NM_001136554 TLK1,TLK1,TLK1 EXON Missense_N91S,Missense_N187S,Missense_N139S exm241766 2 172180809 [T/C] NM_024770 METTL8 EXON Missense_R366H exm241767 2 172180813 [A/G] NM_024770 METTL8 EXON Missense_R365C exm241768 2 172180831 [T/C] NM_024770 METTL8 EXON Missense_K359E exm241769 2 172180842 [T/C] NM_024770 METTL8 EXON Missense_S355N exm241771 2 172182377 [T/C] NM_024770 METTL8 EXON Missense_G336D exm241772 2 172182386 [C/G] NM_024770 METTL8 EXON Missense_R333P exm241788 2 172187201 [A/G] NM_024770 METTL8 EXON Missense_S243L exm241801 2 172195794 [A/G] NM_024770 METTL8 EXON Missense_T169I exm241824 2 172291650 [A/G] NM_025000,NM_001164821,NR_028482 DCAF17,DCAF17,DCAF17 EXON Missense_E62K,Missense_E62K,Silent exm241826 2 172291675 [A/G] NM_025000,NM_001164821,NR_028482 DCAF17,DCAF17,DCAF17 EXON Missense_N70S,Missense_N70S,Silent exm241835 2 172309651 [A/T] NM_025000,NM_001164821,NR_028482 DCAF17,DCAF17,DCAF17 EXON Missense_H185Q,Missense_H185Q,Silent exm1989977 2 172309675 [A/C] NM_025000,NM_001164821,NR_028482 DCAF17,DCAF17,DCAF17 EXON Missense_F193L,Missense_F193L,Silent exm241838 2 172314577 [A/G] NM_025000,NM_001164821,NR_028482 DCAF17,DCAF17,DCAF17 EXON Missense_A242T,Missense_A242T,Silent exm241843 2 172325472 [A/G] NM_025000,NM_001164821,NR_028482 DCAF17,DCAF17,DCAF17 EXON Missense_I305V,Missense_I305V,Silent exm241851 2 172330424 [T/C] NM_025000,NM_001164821,NR_028482 DCAF17,DCAF17,DCAF17 EXON Missense_W344R,Silent,Silent exm241863 2 172337487 [T/C] NM_025000,NM_001164821,NR_028482 DCAF17,DCAF17,DCAF17 EXON Missense_Y476H,Missense_Y409H,Silent exm2269174 2 172369069 [T/C] exm241866 2 172379099 [T/C] NM_001256909,NM_001127383,NM_024843 CYBRD1,CYBRD1,CYBRD1 EXON Silent,Missense_S15L,Missense_S15L exm241877 2 172398103 [A/G] NM_001256909,NM_001127383,NM_024843 CYBRD1,CYBRD1,CYBRD1 EXON Missense_V10I,Silent,Missense_V68I exm241882 2 172398244 [A/G] NM_001256909,NM_001127383,NM_024843 CYBRD1,CYBRD1,CYBRD1 EXON Missense_N57D,Silent,Missense_N115D exm241885 2 172409897 [A/G] NM_001256909,NM_001127383,NM_024843 CYBRD1,CYBRD1,CYBRD1 EXON Synonymous_P90P,Missense_A79T,Synonymous_P148P exm241889 2 172409980 [T/C] NM_001256909,NM_001127383,NM_024843 CYBRD1,CYBRD1,CYBRD1 EXON Missense_M118T,Synonymous_Y106Y,Missense_M176T exm241891 2 172411060 [T/C] NM_001256909,NM_001127383,NM_024843 CYBRD1,CYBRD1,CYBRD1 EXON Missense_P137L,Synonymous_P125P,Missense_P195L exm241892 2 172411061 [A/G] NM_001256909,NM_001127383,NM_024843 CYBRD1,CYBRD1,CYBRD1 EXON Synonymous_P137P,Missense_A126T,Synonymous_P195P exm241895 2 172411153 [A/G] NM_001256909,NM_001127383,NM_024843 CYBRD1,CYBRD1,CYBRD1 EXON Missense_R168H,Synonymous_T156T,Missense_R226H exm241896 2 172411250 [G/C] NM_001256909,NM_001127383,NM_024843 CYBRD1,CYBRD1,CYBRD1 EXON Missense_D200E,Silent,Missense_D258E exm241897 2 172411273 [A/G] NM_001256909,NM_001127383,NM_024843 CYBRD1,CYBRD1,CYBRD1 EXON Missense_S208N,Silent,Missense_S266N exm241910 2 172549402 [T/C] NM_001378,NM_001271788,NM_001271786,NM_001271790,NM_001271787,NM_001271789,NM_001271785 DYNC1I2,DYNC1I2,DYNC1I2,DYNC1I2,DYNC1I2,DYNC1I2,DYNC1I2 EXON Missense_I75T,Missense_I75T,Missense_I75T,Missense_I75T,Missense_I75T,Missense_I75T,Missense_I75T exm241918 2 172571843 [G/C] NM_001378,NM_001271788,NM_001271786,NM_001271790,NM_001271787,NM_001271789,NM_001271785 DYNC1I2,DYNC1I2,DYNC1I2,DYNC1I2,DYNC1I2,DYNC1I2,DYNC1I2 EXON Missense_G134A,Missense_G108A,Missense_G126A,Missense_G108A,Missense_G126A,Missense_G108A,Missense_G134A exm241919 2 172571873 [T/C] NM_001378,NM_001271788,NM_001271786,NM_001271790,NM_001271787,NM_001271789,NM_001271785 DYNC1I2,DYNC1I2,DYNC1I2,DYNC1I2,DYNC1I2,DYNC1I2,DYNC1I2 EXON Missense_T144M,Missense_T118M,Missense_T136M,Missense_T118M,Missense_T136M,Missense_T118M,Missense_T144M exm241941 2 172584341 [T/C] NM_001378,NM_001271788,NM_001271786,NM_001271790,NM_001271787,NM_001271789,NM_001271785 DYNC1I2,DYNC1I2,DYNC1I2,DYNC1I2,DYNC1I2,DYNC1I2,DYNC1I2 EXON Missense_M336T,Missense_M310T,Missense_M328T,Missense_M310T,Missense_M328T,Missense_M310T,Missense_M336T exm241947 2 172585238 [T/G] NM_001378,NM_001271788,NM_001271786,NM_001271790,NM_001271787,NM_001271789,NM_001271785 DYNC1I2,DYNC1I2,DYNC1I2,DYNC1I2,DYNC1I2,DYNC1I2,DYNC1I2 EXON Missense_E423D,Missense_E397D,Missense_E415D,Missense_E397D,Missense_E415D,Missense_E397D,Missense_E423D exm241970 2 172644389 [T/C] NR_047549,NM_003705 SLC25A12,SLC25A12 EXON Silent,Missense_A552T exm241971 2 172648001 [G/C] NR_047549,NM_003705 SLC25A12,SLC25A12 EXON Silent,Missense_H515Q exm241975 2 172650165 [T/C] NR_047549,NM_003705 SLC25A12,SLC25A12 EXON Silent,Missense_R473Q exm241978 2 172650198 [A/G] NR_047549,NM_003705 SLC25A12,SLC25A12 EXON Silent,Missense_T462M exm241999 2 172691260 [T/C] NR_047549,NM_003705 SLC25A12,SLC25A12 EXON Silent,Missense_R243K exm1990075 2 172725276 [A/G] NR_047549,NM_003705 SLC25A12,SLC25A12 EXON Silent,Missense_R42C exm242054 2 172823408 [G/C] NM_003642,NR_027862 HAT1,HAT1 EXON Missense_A254G,Silent exm242056 2 172841111 [A/G] NM_003642,NR_027862 HAT1,HAT1 EXON Missense_K280R,Silent exm242059 2 172841176 [T/C] NM_003642,NR_027862 HAT1,HAT1 EXON Missense_R302W,Silent exm242062 2 172841213 [T/C] NM_003642,NR_027862 HAT1,HAT1 EXON Missense_A314V,Silent exm2269175 2 172921832 [T/C] NM_199227 METAP1D Silent exm242076 2 172926226 [T/G] NM_199227 METAP1D EXON Missense_G14V exm242092 2 172928514 [A/G] NM_199227 METAP1D EXON Missense_D92N exm242101 2 172930465 [A/G] NM_199227 METAP1D EXON Missense_H161R exm242103 2 172931008 [A/G] NM_199227 METAP1D EXON Missense_G172R exm242108 2 172935634 [A/G] NM_199227 METAP1D Silent exm242109 2 172935641 [T/C] NM_199227 METAP1D EXON Missense_Y183H exm242113 2 172935747 [T/C] NM_199227 METAP1D EXON Missense_I218T exm242115 2 172935794 [A/G] NM_199227 METAP1D EXON Missense_I234V exm242122 2 172943967 [A/G] NM_199227 METAP1D EXON Missense_E276G exm242129 2 172945058 [T/C] NM_199227 METAP1D EXON Missense_S311L exm2236595 2 172950461 [T/C] NM_178120,NM_001038493 DLX1,DLX1 EXON Missense_V19A,Missense_V19A exm242155 2 172952869 [A/C] NM_178120,NM_001038493 DLX1,DLX1 EXON Missense_P218T,Silent exm242167 2 172965426 [A/C] NM_004405 DLX2 EXON Missense_G278C exm242168 2 172965441 [A/C] NM_004405 DLX2 EXON Missense_A273S exm242181 2 172966336 [T/C] NM_004405 DLX2 EXON Missense_G147R exm242185 2 172966952 [G/C] NM_004405 DLX2 EXON Missense_K105N exm242192 2 172967046 [A/G] NM_004405 DLX2 EXON Missense_A74V exm2265368 2 173070436 [A/G] exm242202 2 173292571 [T/C] NM_001079818,NM_000210 ITGA6,ITGA6 EXON Missense_R19W,Missense_R19W exm242206 2 173292664 [A/G] NM_001079818,NM_000210 ITGA6,ITGA6 EXON Missense_M50V,Missense_M50V exm-rs12621278 2 173311553 [A/G] NM_001079818,NM_000210 ITGA6,ITGA6 Silent,Silent exm242230 2 173338939 [A/G] NM_001079818,NM_000210 ITGA6,ITGA6 EXON Missense_G311D,Missense_G311D exm242236 2 173339808 [A/G] NM_001079818,NM_000210 ITGA6,ITGA6 EXON Missense_A380T,Missense_A380T exm2265236 2 173341828 [A/G] NM_001079818,NM_000210 ITGA6,ITGA6 Silent,Silent exm242243 2 173344431 [A/G] NM_001079818,NM_000210 ITGA6,ITGA6 EXON Missense_R484H,Missense_R484H exm242249 2 173344747 [T/C] NM_001079818,NM_000210 ITGA6,ITGA6 EXON Missense_T506I,Missense_T506I exm242257 2 173349882 [A/G] NM_001079818,NM_000210 ITGA6,ITGA6 EXON Missense_I582V,Missense_I582V exm242260 2 173349988 [T/C] NM_001079818,NM_000210 ITGA6,ITGA6 EXON Missense_I617T,Missense_I617T exm242263 2 173351839 [A/C] NM_001079818,NM_000210 ITGA6,ITGA6 EXON Missense_N648T,Missense_N648T exm242272 2 173352507 [T/G] NM_001079818,NM_000210 ITGA6,ITGA6 EXON Missense_D766Y,Missense_D766Y exm242288 2 173354358 [A/G] NM_001079818,NM_000210 ITGA6,ITGA6 EXON Missense_Q884R,Missense_Q884R exm242293 2 173355776 [T/C] NM_001079818,NM_000210 ITGA6,ITGA6 EXON Missense_R902W,Missense_R902W exm242300 2 173355958 [A/G] NM_001079818,NM_000210 ITGA6,ITGA6 EXON Missense_V930M,Missense_V930M exm242302 2 173355989 [T/C] NM_001079818,NM_000210 ITGA6,ITGA6 EXON Missense_P940L,Missense_P940L exm242307 2 173356028 [A/G] NM_001079818,NM_000210 ITGA6,ITGA6 EXON Missense_R953H,Missense_R953H exm242328 2 173368943 [A/G] NM_001079818,NM_000210 ITGA6,ITGA6 EXON Nonsense_W1080X,Silent exm242341 2 173427009 [A/G] NM_002610 PDK1 EXON Missense_A134T exm242344 2 173429231 [A/C] NM_002610 PDK1 EXON Missense_D137E exm242346 2 173429250 [T/C] NM_002610 PDK1 EXON Missense_R144W exm242348 2 173429302 [T/C] NM_002610 PDK1 EXON Missense_I161T exm242349 2 173429346 [A/C] NM_002610 PDK1 EXON Missense_N176H exm242353 2 173429407 [A/G] NM_002610 PDK1 EXON Missense_N196S exm242360 2 173431626 [T/G] NM_002610 PDK1 EXON Missense_I245S exm-rs6433379 2 173620465 [A/G] NM_007023 RAPGEF4 Silent exm242409 2 173679008 [A/G] NM_007023 RAPGEF4 EXON Missense_D100G exm2265237 2 173686798 [A/G] NM_007023,NM_001100397 RAPGEF4,RAPGEF4 Silent,Silent exm242426 2 173787027 [A/C] NM_007023,NM_001100397 RAPGEF4,RAPGEF4 EXON Missense_N179T,Missense_N35T exm242433 2 173825868 [A/C] NM_007023,NM_001100397 RAPGEF4,RAPGEF4 EXON Missense_L204I,Missense_L60I exm242441 2 173830357 [A/C] NM_007023,NM_001100397 RAPGEF4,RAPGEF4 EXON Missense_T256P,Missense_T112P exm242448 2 173832019 [A/G] NM_007023,NM_001100397 RAPGEF4,RAPGEF4 EXON Missense_Y284C,Missense_Y140C exm242449 2 173832028 [A/G] NM_007023,NM_001100397 RAPGEF4,RAPGEF4 EXON Missense_Y287C,Missense_Y143C exm242465 2 173852948 [T/C] NM_007023,NM_001100397 RAPGEF4,RAPGEF4 EXON Missense_T392I,Missense_T248I exm242478 2 173861249 [A/G] NM_007023,NM_001100397 RAPGEF4,RAPGEF4 EXON Missense_I516V,Missense_I372V exm2236603 2 173879242 [T/C] NM_007023,NM_001100397 RAPGEF4,RAPGEF4 EXON Missense_A570V,Missense_A426V exm242484 2 173879268 [T/C] NM_007023,NM_001100397 RAPGEF4,RAPGEF4 EXON Missense_R579C,Missense_R435C exm242485 2 173879269 [A/G] NM_007023,NM_001100397 RAPGEF4,RAPGEF4 EXON Missense_R579H,Missense_R435H exm242490 2 173881919 [T/C] NM_007023,NM_001100397 RAPGEF4,RAPGEF4 EXON Missense_A639V,Missense_A495V exm242492 2 173882160 [T/G] NM_007023,NM_001100397 RAPGEF4,RAPGEF4 EXON Missense_V646F,Missense_V502F exm242499 2 173882221 [A/G] NM_007023,NM_001100397 RAPGEF4,RAPGEF4 EXON Missense_G666D,Missense_G522D exm242511 2 173883491 [A/G] NM_007023,NM_001100397 RAPGEF4,RAPGEF4 EXON Missense_G706R,Missense_G562R exm242513 2 173883494 [A/G] NM_007023,NM_001100397 RAPGEF4,RAPGEF4 EXON Missense_E707K,Missense_E563K exm242525 2 173891855 [C/G] NM_007023,NM_001100397 RAPGEF4,RAPGEF4 EXON Missense_T809S,Missense_T665S exm2265369 2 173895285 [A/G] NM_007023,NM_001100397 RAPGEF4,RAPGEF4 Silent,Silent exm242544 2 173913329 [A/G] NM_007023,NM_001100397 RAPGEF4,RAPGEF4 EXON Missense_R952H,Missense_R808H exm242549 2 173916410 [A/G] NM_007023,NM_001100397 RAPGEF4,RAPGEF4 EXON Missense_R984Q,Missense_R840Q exm-rs6707813 2 173923137 [A/G] exm1990298 2 174047614 [A/G] NM_133646,NM_016653 ZAK,ZAK EXON Missense_I94V,Missense_I94V exm242563 2 174052350 [T/C] NM_133646,NM_016653 ZAK,ZAK EXON Synonymous_N138N,Synonymous_N138N exm242574 2 174062794 [A/G] NM_133646,NM_016653,NR_033882 ZAK,ZAK,MLK7-AS1 EXON Missense_G208D,Missense_G208D,Silent exm242586 2 174074554 [T/C] NM_133646,NM_016653,NR_033882 ZAK,ZAK,MLK7-AS1 EXON Missense_A281V,Missense_A281V,Silent exm242599 2 174085981 [A/G] NM_133646,NM_016653,NR_033882 ZAK,ZAK,MLK7-AS1 EXON Missense_S364N,Silent,Silent exm242601 2 174086044 [T/A] NM_133646,NM_016653,NR_033882 ZAK,ZAK,MLK7-AS1 EXON Missense_D385V,Silent,Silent exm1990325 2 174086160 [A/G] NM_133646,NM_016653,NR_033882 ZAK,ZAK,MLK7-AS1 EXON Missense_M424V,Silent,Silent exm242610 2 174086211 [C/G] NM_133646,NM_016653,NR_033882 ZAK,ZAK,MLK7-AS1 EXON Missense_D441H,Silent,Silent exm242634 2 174104211 [A/G] NM_016653,NR_033882 ZAK,MLK7-AS1 EXON Missense_G449E,Silent exm242641 2 174128513 [T/C] NM_016653,NR_033882 ZAK,MLK7-AS1 EXON Missense_S531L,Silent exm242647 2 174128561 [T/A] NM_016653,NR_033882 ZAK,MLK7-AS1 EXON Missense_Q547L,Silent exm242650 2 174130813 [T/C] NM_016653,NR_033882 ZAK,MLK7-AS1 EXON Missense_R580W,Silent exm242655 2 174130900 [A/G] NM_016653,NR_033882 ZAK,MLK7-AS1 EXON Missense_D609N,Silent exm242656 2 174130918 [T/G] NM_016653,NR_033882 ZAK,MLK7-AS1 EXON Missense_V615L,Silent exm242660 2 174131122 [T/C] NM_016653,NR_033882 ZAK,MLK7-AS1 EXON Missense_R683C,Silent exm242662 2 174131140 [A/G] NM_016653,NR_033882 ZAK,MLK7-AS1 EXON Missense_N689D,Silent exm242666 2 174131222 [A/G] NM_016653,NR_033882 ZAK,MLK7-AS1 EXON Missense_R716K,Silent exm242668 2 174131280 [G/C] NM_016653,NR_033882 ZAK,MLK7-AS1 EXON Missense_R735S,Silent exm242671 2 174131368 [A/G] NM_016653,NR_033882 ZAK,MLK7-AS1 EXON Missense_E765K,Silent exm242672 2 174131392 [T/C] NM_016653,NR_033882 ZAK,MLK7-AS1 EXON Missense_Y773H,Silent exm242674 2 174131426 [A/C] NM_016653,NR_033882 ZAK,MLK7-AS1 EXON Missense_K784T,Silent exm2269176 2 174155192 [T/C] exm242692 2 174224215 [G/C] NM_145810,NM_031942 CDCA7,CDCA7 EXON Silent,Missense_G127A exm2236606 2 174228039 [T/C] NM_145810,NM_031942 CDCA7,CDCA7 EXON Missense_A78V,Missense_A157V exm242718 2 174229704 [T/A] NM_145810,NM_031942 CDCA7,CDCA7 EXON Missense_D215V,Missense_D294V exm242724 2 174230229 [T/C] NM_145810,NM_031942 CDCA7,CDCA7 EXON Missense_P236L,Missense_P315L exm2236607 2 174231074 [A/G] NM_145810,NM_031942 CDCA7,CDCA7 EXON Missense_D288N,Missense_D367N exm-rs7590983 2 174362349 [T/C] exm2269345 2 174525107 [T/C] exm2269177 2 174769344 [T/C] exm242747 2 174774847 [T/C] NM_001172712,NM_003111,NM_001017371 SP3,SP3,SP3 EXON Missense_R720Q,Missense_R723Q,Missense_R655Q exm242764 2 174783513 [T/C] NM_001172712,NM_003111,NM_001017371 SP3,SP3,SP3 EXON Missense_D544G,Missense_D547G,Missense_D479G exm242778 2 174819980 [T/C] NM_001172712,NM_003111,NM_001017371 SP3,SP3,SP3 EXON Synonymous_T417T,Synonymous_T420T,Synonymous_T352T exm242780 2 174820086 [T/G] NM_001172712,NM_003111,NM_001017371 SP3,SP3,SP3 EXON Missense_N382T,Missense_N385T,Missense_N317T exm242785 2 174820179 [T/G] NM_001172712,NM_003111,NM_001017371 SP3,SP3,SP3 EXON Missense_N351T,Missense_N354T,Missense_N286T exm242788 2 174820207 [T/C] NM_001172712,NM_003111,NM_001017371 SP3,SP3,SP3 EXON Missense_S342G,Missense_S345G,Missense_S277G exm242800 2 174820519 [T/C] NM_001172712,NM_003111,NM_001017371 SP3,SP3,SP3 EXON Missense_I238V,Missense_I241V,Missense_I173V exm242808 2 174820750 [T/C] NM_001172712,NM_003111,NM_001017371 SP3,SP3,SP3 EXON Missense_T161A,Missense_T164A,Missense_T96A exm242866 2 174945896 [T/C] NM_013341,NM_001011708 OLA1,OLA1 EXON Missense_R317H,Missense_R159H exm2269178 2 175143309 [T/C] exm-rs2044770 2 175183905 [A/G] exm242947 2 175213527 [T/C] NM_004882 CIR1 EXON Missense_S351G exm1990425 2 175213587 [T/C] NM_004882 CIR1 EXON Missense_K331E exm242951 2 175213593 [A/G] NM_004882 CIR1 EXON Missense_R329W exm242974 2 175215434 [T/C] NM_004882 CIR1 EXON Missense_E211K exm242983 2 175243659 [T/C] NM_004882 CIR1 EXON Missense_D159G exm242984 2 175243669 [T/C] NM_004882 CIR1 EXON Missense_V156I exm243003 2 175263063 [A/G] NM_001193528,NM_024583 SCRN3,SCRN3 EXON Silent,Missense_D18N exm243006 2 175263171 [T/G] NM_001193528,NM_024583 SCRN3,SCRN3 Silent,Silent exm243010 2 175264651 [A/G] NM_001193528,NM_024583 SCRN3,SCRN3 EXON Missense_C47Y,Missense_C54Y exm243013 2 175264692 [A/G] NM_001193528,NM_024583 SCRN3,SCRN3 EXON Missense_V61I,Missense_V68I exm243016 2 175264711 [A/C] NM_001193528,NM_024583 SCRN3,SCRN3 EXON Missense_A67E,Missense_A74E exm243030 2 175265782 [A/C] NM_001193528,NM_024583 SCRN3,SCRN3 EXON Missense_K129Q,Missense_K136Q exm243039 2 175265912 [T/C] NM_001193528,NM_024583 SCRN3,SCRN3 EXON Missense_V172A,Missense_V179A exm243046 2 175268933 [A/G] NM_001193528,NM_024583 SCRN3,SCRN3 EXON Missense_G208D,Missense_G215D exm243055 2 175287727 [C/G] NM_001193528,NM_024583 SCRN3,SCRN3 EXON Missense_S283C,Missense_S290C exm243060 2 175289259 [T/G] NM_001193528,NM_024583 SCRN3,SCRN3 EXON Missense_S318I,Missense_S325I exm243061 2 175289268 [T/C] NM_001193528,NM_024583 SCRN3,SCRN3 EXON Missense_T321I,Missense_T328I exm243063 2 175289319 [G/C] NM_001193528,NM_024583 SCRN3,SCRN3 EXON Missense_R338T,Missense_R345T exm243069 2 175292480 [G/C] NM_001193528,NM_024583 SCRN3,SCRN3 EXON Missense_E371Q,Missense_E378Q exm2236610 2 175292538 [A/G] NM_001193528,NM_024583 SCRN3,SCRN3 EXON Missense_E390G,Missense_E397G exm243074 2 175292599 [T/G] NM_001193528,NM_024583 SCRN3,SCRN3 EXON Missense_N410K,Missense_N417K exm243082 2 175301065 [T/C] NM_152529,NM_001267051,NM_001033045,NM_001267050 GPR155,GPR155,GPR155,GPR155 EXON Missense_D798N,Missense_D770N,Missense_D798N,Missense_D798N exm243091 2 175304669 [A/T] NM_152529,NM_001267051,NM_001033045,NM_001267050 GPR155,GPR155,GPR155,GPR155 EXON Missense_Y757N,Missense_Y729N,Missense_Y757N,Missense_Y757N exm243107 2 175311473 [T/C] NM_152529,NM_001267051,NM_001033045,NM_001267050 GPR155,GPR155,GPR155,GPR155 EXON Missense_N627D,Missense_N599D,Missense_N627D,Missense_N627D exm243108 2 175311474 [T/G] NM_152529,NM_001267051,NM_001033045,NM_001267050 GPR155,GPR155,GPR155,GPR155 EXON Missense_N626K,Missense_N598K,Missense_N626K,Missense_N626K exm1990488 2 175324687 [C/G] NM_152529,NM_001267051,NM_001033045,NM_001267050 GPR155,GPR155,GPR155,GPR155 EXON Missense_E564Q,Missense_E536Q,Missense_E564Q,Missense_E564Q exm243126 2 175326204 [T/C] NM_152529,NM_001267051,NM_001033045,NM_001267050 GPR155,GPR155,GPR155,GPR155 EXON Missense_V496I,Missense_V468I,Missense_V496I,Missense_V496I exm243130 2 175326338 [T/C] NM_152529,NM_001267051,NM_001033045,NM_001267050 GPR155,GPR155,GPR155,GPR155 EXON Missense_I483V,Missense_I455V,Missense_I483V,Missense_I483V exm1990507 2 175337765 [A/G] NM_152529,NM_001267051,NM_001033045,NM_001267050 GPR155,GPR155,GPR155,GPR155 EXON Missense_T263M,Missense_T263M,Missense_T263M,Missense_T263M exm2236611 2 175337832 [T/C] NM_152529,NM_001267051,NM_001033045,NM_001267050 GPR155,GPR155,GPR155,GPR155 EXON Missense_V241I,Missense_V241I,Missense_V241I,Missense_V241I exm243158 2 175337871 [T/C] NM_152529,NM_001267051,NM_001033045,NM_001267050 GPR155,GPR155,GPR155,GPR155 EXON Missense_A228T,Missense_A228T,Missense_A228T,Missense_A228T exm243161 2 175337936 [A/G] NM_152529,NM_001267051,NM_001033045,NM_001267050 GPR155,GPR155,GPR155,GPR155 EXON Missense_I206T,Missense_I206T,Missense_I206T,Missense_I206T exm1990509 2 175338074 [A/G] NM_152529,NM_001267051,NM_001033045,NM_001267050 GPR155,GPR155,GPR155,GPR155 EXON Missense_T160I,Missense_T160I,Missense_T160I,Missense_T160I exm243170 2 175346299 [T/C] NM_152529,NM_001267051,NM_001033045,NM_001267050 GPR155,GPR155,GPR155,GPR155 EXON Missense_S129N,Missense_S129N,Missense_S129N,Missense_S129N exm243204 2 175436496 [A/G] NM_003387,NM_001077269 WIPF1,WIPF1 EXON Missense_P346L,Missense_P346L exm1990525 2 175436646 [T/G] NM_003387,NM_001077269 WIPF1,WIPF1 EXON Missense_S296Y,Missense_S296Y exm243213 2 175436757 [A/G] NM_003387,NM_001077269 WIPF1,WIPF1 EXON Missense_A259V,Missense_A259V exm243224 2 175436940 [A/G] NM_003387,NM_001077269 WIPF1,WIPF1 EXON Missense_P198L,Missense_P198L exm243227 2 175437060 [T/C] NM_003387,NM_001077269 WIPF1,WIPF1 EXON Missense_R158K,Missense_R158K exm243242 2 175440078 [T/C] NM_003387,NM_001077269 WIPF1,WIPF1 EXON Missense_G71D,Missense_G71D exm243244 2 175440082 [T/C] NM_003387,NM_001077269 WIPF1,WIPF1 EXON Missense_G70S,Missense_G70S exm243252 2 175446097 [T/C] NM_003387,NM_001077269 WIPF1,WIPF1 EXON Missense_S41N,Missense_S41N exm243259 2 175450270 [A/G] NM_003387,NM_001077269 WIPF1,WIPF1 EXON Missense_P11L,Missense_P11L exm243260 2 175450286 [C/G] NM_003387,NM_001077269 WIPF1,WIPF1 EXON Missense_P6A,Missense_P6A exm243267 2 175613317 [A/C] NM_001039523,NM_000079 CHRNA1,CHRNA1 EXON Missense_E436D,Missense_E411D exm243272 2 175613411 [A/G] NM_001039523,NM_000079 CHRNA1,CHRNA1 EXON Missense_M405T,Missense_M380T exm243273 2 175613477 [A/T] NM_001039523,NM_000079 CHRNA1,CHRNA1 EXON Missense_D383V,Missense_D358V exm243275 2 175613486 [T/C] NM_001039523,NM_000079 CHRNA1,CHRNA1 EXON Missense_E380G,Missense_E355G exm243288 2 175614896 [T/C] NM_001039523,NM_000079 CHRNA1,CHRNA1 EXON Synonymous_G285G,Synonymous_G260G exm243295 2 175618333 [T/C] NM_001039523,NM_000079 CHRNA1,CHRNA1 EXON Missense_V251I,Missense_V226I exm243299 2 175618366 [T/C] NM_001039523,NM_000079 CHRNA1,CHRNA1 EXON Missense_D240N,Missense_D215N exm243314 2 175622319 [A/G] NM_001039523,NM_000079 CHRNA1,CHRNA1 EXON Missense_R132C,Missense_R107C exm243324 2 175624069 [T/C] NM_001039523,NM_000079 CHRNA1,CHRNA1 EXON Missense_R75H,Missense_R75H exm2265370 2 175624597 [A/G] NM_001039523,NM_000079 CHRNA1,CHRNA1 Silent,Silent exm243337 2 175629122 [T/C] NM_001039523,NM_000079 CHRNA1,CHRNA1 EXON Missense_M1V,Missense_M1V exm243351 2 175676241 [G/C] NM_001025201,NM_001822,NR_038133,NM_001206602 CHN1,CHN1,CHN1,CHN1 EXON Missense_R295T,Missense_R321T,Silent,Missense_R196T exm243357 2 175689246 [T/C] NM_001025201,NM_001822,NR_038133,NM_001206602 CHN1,CHN1,CHN1,CHN1 EXON Missense_V184M,Missense_V210M,Silent,Missense_V85M exm243367 2 175742704 [A/G] NM_001025201,NM_001822,NR_038133 CHN1,CHN1,CHN1 EXON Missense_T138M,Missense_T138M,Silent exm243368 2 175779805 [T/C] NM_001025201,NM_001822,NR_038133 CHN1,CHN1,CHN1 EXON Missense_T81A,Missense_T81A,Silent exm243394 2 175939543 [T/A] NM_001256092,NR_045773,NM_001256093,NR_045770,NR_045772,NR_045771,NR_045769,NM_001880,NR_045768,NM_001256091,NM_001256090,NR_045774 ATF2,ATF2,ATF2,ATF2,ATF2,ATF2,ATF2,ATF2,ATF2,ATF2,ATF2,ATF2 EXON Missense_S380T,Silent,Silent,Silent,Silent,Silent,Silent,Missense_S438T,Silent,Missense_S420T,Missense_S438T,Silent exm243406 2 175957961 [T/C] NM_001256092,NR_045773,NM_001256093,NR_045770,NR_045772,NR_045771,NR_045769,NM_001880,NR_045768,NM_001256091,NM_001256090,NR_045774 ATF2,ATF2,ATF2,ATF2,ATF2,ATF2,ATF2,ATF2,ATF2,ATF2,ATF2,ATF2 EXON Missense_S280N,Silent,Missense_S280N,Silent,Silent,Silent,Silent,Missense_S338N,Silent,Missense_S320N,Missense_S338N,Silent exm243408 2 175962173 [A/G] NM_001256092,NR_045773,NM_001256093,NR_045770,NR_045772,NR_045771,NR_045769,NM_001880,NR_045768,NM_001256091,NM_001256090,NR_045774 ATF2,ATF2,ATF2,ATF2,ATF2,ATF2,ATF2,ATF2,ATF2,ATF2,ATF2,ATF2 EXON Missense_P268L,Silent,Missense_P268L,Silent,Silent,Silent,Silent,Missense_P326L,Silent,Missense_P308L,Missense_P326L,Silent exm2236615 2 175962251 [T/C] NM_001256092,NR_045773,NM_001256093,NR_045770,NR_045772,NR_045771,NR_045769,NM_001880,NR_045768,NM_001256091,NM_001256090,NR_045774 ATF2,ATF2,ATF2,ATF2,ATF2,ATF2,ATF2,ATF2,ATF2,ATF2,ATF2,ATF2 EXON Missense_S242N,Silent,Missense_S242N,Silent,Silent,Silent,Silent,Missense_S300N,Silent,Missense_S282N,Missense_S300N,Silent exm243426 2 175979557 [T/C] NM_001256092,NR_045773,NM_001256093,NR_045770,NR_045772,NR_045771,NR_045769,NM_001880,NR_045768,NM_001256091,NM_001256090,NR_045774,NM_001256094 ATF2,ATF2,ATF2,ATF2,ATF2,ATF2,ATF2,ATF2,ATF2,ATF2,ATF2,ATF2,ATF2 EXON Missense_I105V,Silent,Missense_I105V,Silent,Silent,Silent,Silent,Missense_I163V,Silent,Missense_I145V,Missense_I163V,Silent,Missense_I163V exm243450 2 176043906 [T/C] NM_001190329,NM_001002258,NM_001689 ATP5G3,ATP5G3,ATP5G3 EXON Missense_I65V,Missense_I65V,Missense_I65V exm243455 2 176044863 [A/G] NM_001190329,NM_001002258,NM_001689 ATP5G3,ATP5G3,ATP5G3 EXON Missense_S28L,Missense_S28L,Missense_S28L exm243460 2 176046090 [A/G] NM_001190329,NM_001002258,NM_001689 ATP5G3,ATP5G3,ATP5G3 EXON Missense_P11L,Missense_P11L,Missense_P11L exm243461 2 176046091 [C/G] NM_001190329,NM_001002258,NM_001689 ATP5G3,ATP5G3,ATP5G3 EXON Missense_P11A,Missense_P11A,Missense_P11A exm2269346 2 176047906 [T/G] exm-rs4972755 2 176239849 [A/G] exm-rs2461751 2 176289319 [A/G] exm2269179 2 176322489 [T/C] exm2269180 2 176641602 [T/C] exm243475 2 176794846 [A/C] NM_030650 KIAA1715 EXON Missense_V379G exm243478 2 176802120 [A/G] NM_030650 KIAA1715 EXON Missense_P336S exm243485 2 176804350 [T/C] NM_030650 KIAA1715 EXON Missense_I248V exm243487 2 176812232 [A/G] NM_030650 KIAA1715 EXON Missense_P228S exm243488 2 176812292 [C/G] NM_030650 KIAA1715 EXON Missense_P208A exm243496 2 176829117 [G/C] NM_030650 KIAA1715 EXON Missense_T159S exm243499 2 176829141 [A/G] NM_030650 KIAA1715 EXON Missense_P151L exm243500 2 176829147 [T/C] NM_030650 KIAA1715 EXON Missense_C149Y exm243506 2 176844577 [T/C] NM_030650 KIAA1715 EXON Missense_V93I exm243512 2 176857038 [T/C] NM_030650 KIAA1715 EXON Missense_I60V exm243513 2 176857110 [T/G] NM_030650 KIAA1715 EXON Missense_Q36K exm243576 2 176948111 [G/C] NM_001080458 EVX2 EXON Missense_G132R exm243587 2 176948407 [T/C] NM_001080458 EVX2 EXON Missense_G33D exm243588 2 176948425 [T/C] NM_001080458 EVX2 EXON Missense_N27S exm243592 2 176948494 [A/C] NM_001080458 EVX2 EXON Missense_R4I exm243603 2 176957878 [C/G] NM_000523 HOXD13 EXON Missense_S87W exm243609 2 176958023 [A/C] NM_000523 HOXD13 EXON Nonsense_Y135X exm243614 2 176958118 [A/G] NM_000523 HOXD13 EXON Missense_Y167C exm243616 2 176958151 [T/C] NM_000523 HOXD13 EXON Missense_V178A exm243618 2 176958159 [A/G] NM_000523 HOXD13 EXON Missense_N181D exm243619 2 176958235 [A/G] NM_000523 HOXD13 EXON Missense_Y206C exm2263959 2 176958701 [A/C] NM_000523 HOXD13 Silent exm243642 2 176964653 [A/G] NM_021193 HOXD12 EXON Missense_I42V exm243654 2 176964947 [A/G] NM_021193 HOXD12 EXON Missense_A140T exm243656 2 176965086 [A/G] NM_021193 HOXD12 EXON Missense_R186Q exm243657 2 176965102 [A/C] NM_021193 HOXD12 EXON Missense_D191E exm243665 2 176965337 [A/T] NM_021193 HOXD12 EXON Missense_F221Y exm243668 2 176965385 [A/C] NM_021193 HOXD12 EXON Missense_N237T exm1990687 2 176965465 [A/G] NM_021193 HOXD12 EXON Missense_E264K exm243680 2 176972168 [T/G] NM_021192 HOXD11 EXON Missense_A29S exm243699 2 176973644 [A/G] NM_021192 HOXD11 EXON Missense_Q264R exm243718 2 176981692 [G/C] NM_002148 HOXD10 EXON Missense_G44A exm243720 2 176981731 [T/C] NM_002148 HOXD10 EXON Missense_L57P exm243728 2 176981933 [T/G] NM_002148 HOXD10 EXON Missense_I124M exm243740 2 176982167 [C/G] NM_002148 HOXD10 EXON Missense_N202K exm243744 2 176982222 [T/G] NM_002148 HOXD10 EXON Missense_A221S exm243754 2 176983717 [T/C] NM_002148 HOXD10 EXON Missense_L261F exm243766 2 176983934 [T/C] NM_002148 HOXD10 EXON Missense_L333P exm243805 2 176988796 [A/G] NM_014213 HOXD9 EXON Missense_V318M exm-rs2592394 2 176991779 [A/G] exm243848 2 176995654 [T/C] NM_001199747,NM_019558,NM_001199746 HOXD8,HOXD8,HOXD8 EXON Missense_P3L,Missense_P187L,Missense_P187L exm243854 2 176996152 [A/G] NM_001199747,NM_019558,NM_001199746 HOXD8,HOXD8,HOXD8 EXON Missense_E45K,Missense_E229K,Missense_E228K exm243859 2 176996278 [A/G] NM_001199747,NM_019558,NM_001199746 HOXD8,HOXD8,HOXD8 EXON Missense_G87R,Missense_G271R,Missense_G270R exm243867 2 177016425 [A/G] NM_014621 HOXD4 EXON Missense_E22K exm243882 2 177016728 [T/C] NM_014621 HOXD4 EXON Missense_S123P exm243908 2 177033955 [T/C] NM_006898 HOXD3 EXON Missense_T38M exm243911 2 177033966 [A/G] NM_006898 HOXD3 EXON Missense_G42S exm243919 2 177034115 [A/G] NM_006898 HOXD3 EXON Missense_M91I exm243926 2 177034213 [T/C] NM_006898 HOXD3 EXON Missense_P124L exm-rs2072590 2 177042633 [A/C] NR_033979 HOXD-AS1 Silent exm-rs1446575 2 177047801 [T/G] NR_033979 HOXD-AS1 Silent exm243973 2 177054115 [T/C] NM_024501 HOXD1 EXON Missense_S196P exm243977 2 177054181 [C/G] NM_024501 HOXD1 EXON Missense_G218R exm243987 2 177054685 [G/C] NM_024501 HOXD1 EXON Missense_L268V exm243991 2 177054769 [A/G] NM_024501 HOXD1 EXON Missense_A296T exm2254802 2 177076041 [T/C] exm244009 2 177191571 [A/G] NR_027850,NM_006554 MTX2,MTX2 EXON Silent,Missense_H76R exm1990786 2 177191598 [T/C] NR_027850,NM_006554 MTX2,MTX2 EXON Silent,Missense_L85P exm244010 2 177191606 [A/G] NR_027850,NM_006554 MTX2,MTX2 EXON Silent,Missense_I88V exm244011 2 177193087 [A/G] NR_027850,NM_006554 MTX2,MTX2 EXON Silent,Missense_V118I exm-rs7568419 2 177370519 [A/C] exm2265239 2 177421669 [A/G] exm2261118 2 177549497 [T/C] exm2269182 2 177896927 [T/G] exm-rs1529093 2 177909595 [T/C] exm244057 2 178081615 [A/G] NM_194247 HNRNPA3 EXON Missense_S256N exm244062 2 178082439 [A/G] NM_194247 HNRNPA3 EXON Missense_N276S exm244094 2 178095985 [T/C] NM_006164,NM_001145413,NM_001145412 NFE2L2,NFE2L2,NFE2L2 EXON Missense_R449H,Missense_R426H,Missense_R433H exm244097 2 178096048 [T/C] NM_006164,NM_001145413,NM_001145412 NFE2L2,NFE2L2,NFE2L2 EXON Missense_K428R,Missense_K405R,Missense_K412R exm244098 2 178096062 [A/C] NM_006164,NM_001145413,NM_001145412 NFE2L2,NFE2L2,NFE2L2 EXON Missense_E423D,Missense_E400D,Missense_E407D exm244114 2 178096406 [A/G] NM_006164,NM_001145413,NM_001145412 NFE2L2,NFE2L2,NFE2L2 EXON Missense_L309F,Missense_L286F,Missense_L293F exm244117 2 178096529 [T/C] NM_006164,NM_001145413,NM_001145412 NFE2L2,NFE2L2,NFE2L2 EXON Missense_V268M,Missense_V245M,Missense_V252M exm244119 2 178096675 [T/C] NM_006164,NM_001145413,NM_001145412 NFE2L2,NFE2L2,NFE2L2 EXON Missense_K219R,Missense_K196R,Missense_K203R exm244123 2 178097185 [A/C] NM_006164,NM_001145413,NM_001145412 NFE2L2,NFE2L2,NFE2L2 EXON Missense_L177V,Missense_L154V,Missense_L161V exm244124 2 178097260 [T/C] NM_006164,NM_001145413,NM_001145412 NFE2L2,NFE2L2,NFE2L2 EXON Missense_E152K,Missense_E129K,Missense_E136K exm244129 2 178098017 [G/C] NM_006164,NM_001145413,NM_001145412 NFE2L2,NFE2L2,NFE2L2 EXON Missense_Q121H,Missense_Q105H,Missense_Q105H exm244139 2 178098917 [T/C] NM_006164,NM_001145413,NM_001145412 NFE2L2,NFE2L2,NFE2L2 EXON Missense_R43Q,Missense_R27Q,Missense_R27Q exm244187 2 178346885 [A/G] NM_003659 AGPS EXON Missense_V402I exm244214 2 178415631 [C/G] NM_152517 TTC30B EXON Missense_L621V exm244215 2 178415694 [A/G] NM_152517 TTC30B EXON Missense_H600Y exm244223 2 178415889 [G/C] NM_152517 TTC30B EXON Missense_D535H exm244240 2 178416285 [A/T] NM_152517 TTC30B EXON Missense_N403Y exm244263 2 178416791 [A/G] NM_152517 TTC30B EXON Missense_I234T exm244277 2 178416950 [A/T] NM_152517 TTC30B EXON Missense_L181Q exm244280 2 178417061 [A/C] NM_152517 TTC30B EXON Missense_G144V exm244290 2 178417193 [T/C] NM_152517 TTC30B EXON Missense_R100Q exm244303 2 178417458 [G/C] NM_152517 TTC30B EXON Missense_G12R exm2265371 2 178418575 [A/G] exm244316 2 178481449 [T/C] NM_152275 TTC30A EXON Missense_I661V exm244321 2 178481566 [A/G] NM_152275 TTC30A EXON Missense_Y622H exm2236636 2 178482726 [T/C] NM_152275 TTC30A EXON Missense_D235G exm244377 2 178482891 [T/G] NM_152275 TTC30A EXON Missense_T180K exm244384 2 178483042 [A/G] NM_152275 TTC30A EXON Missense_P130S exm244399 2 178483305 [A/G] NM_152275 TTC30A EXON Missense_P42L exm244409 2 178483414 [A/C] NM_152275 TTC30A EXON Missense_G6C exm244421 2 178494181 [A/G] NM_001077197,NM_001077196,NM_016953,NM_001077358 PDE11A,PDE11A,PDE11A,PDE11A EXON Missense_S669L,Missense_S475L,Missense_S919L,Missense_S561L exm244422 2 178494194 [G/C] NM_001077197,NM_001077196,NM_016953,NM_001077358 PDE11A,PDE11A,PDE11A,PDE11A EXON Missense_A665P,Missense_A471P,Missense_A915P,Missense_A557P exm244427 2 178494259 [A/G] NM_001077197,NM_001077196,NM_016953,NM_001077358 PDE11A,PDE11A,PDE11A,PDE11A EXON Missense_P643L,Missense_P449L,Missense_P893L,Missense_P535L exm244433 2 178528608 [T/C] NM_001077197,NM_001077196,NM_016953,NM_001077358 PDE11A,PDE11A,PDE11A,PDE11A EXON Missense_M628V,Missense_M434V,Missense_M878V,Missense_M520V exm244435 2 178528641 [G/C] NM_001077197,NM_001077196,NM_016953,NM_001077358 PDE11A,PDE11A,PDE11A,PDE11A EXON Missense_R617G,Missense_R423G,Missense_R867G,Missense_R509G exm244439 2 178528676 [T/G] NM_001077197,NM_001077196,NM_016953,NM_001077358 PDE11A,PDE11A,PDE11A,PDE11A EXON Missense_A605E,Missense_A411E,Missense_A855E,Missense_A497E exm1990923 2 178534249 [A/T] NM_001077197,NM_001077196,NM_016953,NM_001077358 PDE11A,PDE11A,PDE11A,PDE11A EXON Missense_E595V,Missense_E401V,Missense_E845V,Missense_E487V exm244445 2 178540212 [T/C] NM_001077197,NM_001077196,NM_016953,NM_001077358 PDE11A,PDE11A,PDE11A,PDE11A EXON Missense_V570M,Missense_V376M,Missense_V820M,Missense_V462M exm244451 2 178545566 [T/C] NM_001077197,NM_001077196,NM_016953,NM_001077358 PDE11A,PDE11A,PDE11A,PDE11A EXON Missense_R554H,Missense_R360H,Missense_R804H,Missense_R446H exm1990932 2 178562138 [A/T] NM_001077197,NM_001077196,NM_016953,NM_001077358 PDE11A,PDE11A,PDE11A,PDE11A EXON Missense_L506Q,Missense_L312Q,Missense_L756Q,Missense_L398Q exm244463 2 178565913 [T/C] NM_001077197,NM_001077196,NM_016953,NM_001077358 PDE11A,PDE11A,PDE11A,PDE11A EXON Missense_Y477C,Missense_Y283C,Missense_Y727C,Missense_Y369C exm244470 2 178576564 [T/C] NM_001077197,NM_001077196,NM_016953,NM_001077358 PDE11A,PDE11A,PDE11A,PDE11A EXON Missense_A446T,Missense_A252T,Missense_A696T,Missense_A338T exm244471 2 178576579 [T/C] NM_001077197,NM_001077196,NM_016953,NM_001077358 PDE11A,PDE11A,PDE11A,PDE11A EXON Missense_E441K,Missense_E247K,Missense_E691K,Missense_E333K exm244478 2 178592445 [C/G] NM_001077197,NM_001077196,NM_016953,NM_001077358 PDE11A,PDE11A,PDE11A,PDE11A EXON Missense_L412V,Missense_L218V,Missense_L662V,Missense_L304V exm244480 2 178592456 [T/C] NM_001077197,NM_001077196,NM_016953,NM_001077358 PDE11A,PDE11A,PDE11A,PDE11A EXON Missense_Y408C,Missense_Y214C,Missense_Y658C,Missense_Y300C exm244483 2 178592763 [A/C] NM_001077197,NM_001077196,NM_016953,NM_001077358 PDE11A,PDE11A,PDE11A,PDE11A EXON Missense_I392M,Missense_I198M,Missense_I642M,Missense_I284M exm2236639 2 178592768 [T/C] NM_001077197,NM_001077196,NM_016953,NM_001077358 PDE11A,PDE11A,PDE11A,PDE11A EXON Missense_K391E,Missense_K197E,Missense_K641E,Missense_K283E exm244485 2 178592804 [A/G] NM_001077197,NM_001077196,NM_016953,NM_001077358 PDE11A,PDE11A,PDE11A,PDE11A EXON Missense_R379W,Missense_R185W,Missense_R629W,Missense_R271W exm244492 2 178592864 [T/C] NM_001077197,NM_001077196,NM_016953,NM_001077358 PDE11A,PDE11A,PDE11A,PDE11A EXON Missense_D359N,Missense_D165N,Missense_D609N,Missense_D251N exm244496 2 178634082 [A/G] NM_001077197,NM_001077196,NM_016953,NM_001077358 PDE11A,PDE11A,PDE11A,PDE11A EXON Missense_T336I,Missense_T142I,Missense_T586I,Missense_T228I exm1990947 2 178634101 [A/C] NM_001077197,NM_001077196,NM_016953,NM_001077358 PDE11A,PDE11A,PDE11A,PDE11A EXON Missense_V330L,Missense_V136L,Missense_V580L,Missense_V222L exm244501 2 178681585 [A/G] NM_001077197,NM_001077196,NM_016953,NM_001077358 PDE11A,PDE11A,PDE11A,PDE11A EXON Missense_S320P,Missense_S126P,Missense_S570P,Missense_S212P exm244503 2 178681638 [A/G] NM_001077197,NM_001077196,NM_016953,NM_001077358 PDE11A,PDE11A,PDE11A,PDE11A EXON Missense_I302T,Missense_I108T,Missense_I552T,Missense_I194T exm-rs7567851 2 178684720 [G/C] NM_001077197,NM_001077196,NM_016953,NM_001077358 PDE11A,PDE11A,PDE11A,PDE11A Silent,Silent,Silent,Silent exm1990957 2 178704994 [A/G] NM_001077197,NM_001077196,NM_016953,NM_001077358 PDE11A,PDE11A,PDE11A,PDE11A EXON Missense_P245L,Missense_P51L,Missense_P495L,Missense_P137L exm244520 2 178740596 [G/C] NM_001077197,NM_001077196,NM_016953,NM_001077358 PDE11A,PDE11A,PDE11A,PDE11A EXON Missense_A203P,Missense_A9P,Missense_A453P,Missense_A95P exm-rs2695735 2 178788488 [A/G] NM_001077197,NM_016953 PDE11A,PDE11A Silent,Silent exm244535 2 178879055 [T/C] NM_001077197,NM_016953 PDE11A,PDE11A EXON Missense_A99T,Missense_A349T exm244539 2 178879115 [A/G] NM_001077197,NM_016953 PDE11A,PDE11A EXON Nonsense_R79X,Nonsense_R329X exm244542 2 178879181 [A/G] NM_001077197,NM_016953 PDE11A,PDE11A EXON Nonsense_R57X,Nonsense_R307X exm244543 2 178936272 [T/C] NM_001077197,NM_016953 PDE11A,PDE11A EXON Silent,Missense_N298S exm244551 2 178936465 [T/C] NM_001077197,NM_016953 PDE11A,PDE11A EXON Silent,Missense_D234N exm244559 2 178936561 [A/G] NM_001077197,NM_016953 PDE11A,PDE11A EXON Silent,Missense_R202C exm244562 2 178936614 [T/C] NM_001077197,NM_016953 PDE11A,PDE11A EXON Silent,Missense_R184Q exm244567 2 178936858 [T/C] NM_001077197,NM_016953 PDE11A,PDE11A EXON Silent,Missense_A103T exm2236643 2 178936936 [T/C] NM_001077197,NM_016953 PDE11A,PDE11A EXON Silent,Missense_G77R exm244572 2 178937010 [G/C] NM_001077197,NM_016953 PDE11A,PDE11A EXON Silent,Missense_R52T exm244574 2 178937069 [A/C] NM_001077197,NM_016953 PDE11A,PDE11A EXON Silent,Missense_Q32H exm244578 2 178969039 [A/G] NM_001077197 PDE11A EXON Missense_T51I exm244581 2 178969133 [A/T] NM_001077197 PDE11A EXON Nonsense_K20X exm244588 2 178977325 [T/G] NM_152945 RBM45 EXON Missense_D18Y exm244598 2 178981107 [T/G] NM_152945 RBM45 EXON Missense_F140C exm1991014 2 178985115 [A/G] NM_152945 RBM45 EXON Missense_R218G exm244606 2 178985948 [T/C] NM_152945 RBM45 EXON Nonsense_R239X exm244616 2 178988323 [C/G] NM_152945 RBM45 EXON Missense_P310A exm244622 2 178988571 [A/G] NM_152945 RBM45 EXON Missense_A334T exm244623 2 178988604 [A/G] NM_152945 RBM45 EXON Missense_M345V exm2269348 2 179102232 [T/C] NM_032523,NM_001201481,NM_001201482,NM_001201480 OSBPL6,OSBPL6,OSBPL6,OSBPL6 Silent,Silent,Silent,Silent exm244634 2 179170987 [A/G] NM_032523,NM_001201481,NM_001201482,NM_001201480 OSBPL6,OSBPL6,OSBPL6,OSBPL6 EXON Missense_T26A,Missense_T26A,Missense_T26A,Missense_T26A exm244637 2 179188937 [A/G] NM_032523,NM_001201481,NM_001201482,NM_001201480,NM_145739 OSBPL6,OSBPL6,OSBPL6,OSBPL6,OSBPL6 EXON Missense_S46G,Missense_S46G,Missense_S46G,Missense_S46G,Missense_S25G exm244639 2 179188943 [A/G] NM_032523,NM_001201481,NM_001201482,NM_001201480,NM_145739 OSBPL6,OSBPL6,OSBPL6,OSBPL6,OSBPL6 EXON Missense_E48K,Missense_E48K,Missense_E48K,Missense_E48K,Missense_E27K exm244641 2 179188959 [A/G] NM_032523,NM_001201481,NM_001201482,NM_001201480,NM_145739 OSBPL6,OSBPL6,OSBPL6,OSBPL6,OSBPL6 EXON Missense_R53Q,Missense_R53Q,Missense_R53Q,Missense_R53Q,Missense_R32Q exm244644 2 179188979 [T/C] NM_032523,NM_001201481,NM_001201482,NM_001201480,NM_145739 OSBPL6,OSBPL6,OSBPL6,OSBPL6,OSBPL6 EXON Missense_P60S,Missense_P60S,Missense_P60S,Missense_P60S,Missense_P39S exm244645 2 179188986 [T/C] NM_032523,NM_001201481,NM_001201482,NM_001201480,NM_145739 OSBPL6,OSBPL6,OSBPL6,OSBPL6,OSBPL6 EXON Missense_P62L,Missense_P62L,Missense_P62L,Missense_P62L,Missense_P41L exm244662 2 179201047 [T/C] NM_032523,NM_001201481,NM_001201482,NM_001201480,NM_145739 OSBPL6,OSBPL6,OSBPL6,OSBPL6,OSBPL6 EXON Missense_P226L,Missense_P226L,Missense_P226L,Missense_P226L,Missense_P205L exm244675 2 179204432 [T/C] NM_032523,NM_001201481,NM_001201482,NM_001201480,NM_145739 OSBPL6,OSBPL6,OSBPL6,OSBPL6,OSBPL6 EXON Missense_R310W,Silent,Missense_R310W,Missense_R310W,Missense_R289W exm1991071 2 179204433 [C/G] NM_032523,NM_001201481,NM_001201482,NM_001201480,NM_145739 OSBPL6,OSBPL6,OSBPL6,OSBPL6,OSBPL6 EXON Missense_R310P,Silent,Missense_R310P,Missense_R310P,Missense_R289P exm244683 2 179209049 [C/G] NM_032523,NM_001201481,NM_001201482,NM_001201480,NM_145739 OSBPL6,OSBPL6,OSBPL6,OSBPL6,OSBPL6 EXON Silent,Silent,Silent,Missense_R342G,Missense_R321G exm244687 2 179209068 [T/C] NM_032523,NM_001201481,NM_001201482,NM_001201480,NM_145739 OSBPL6,OSBPL6,OSBPL6,OSBPL6,OSBPL6 EXON Silent,Silent,Silent,Missense_A348V,Missense_A327V exm244706 2 179238675 [A/G] NM_032523,NM_001201481,NM_001201482,NM_001201480,NM_145739 OSBPL6,OSBPL6,OSBPL6,OSBPL6,OSBPL6 EXON Missense_R485H,Missense_R454H,Missense_R449H,Missense_R510H,Missense_R489H exm244708 2 179247168 [A/C] NM_032523,NM_001201481,NM_001201482,NM_001201480,NM_145739,NR_031666 OSBPL6,OSBPL6,OSBPL6,OSBPL6,OSBPL6,MIR548N EXON Missense_I519L,Missense_I488L,Missense_I483L,Missense_I544L,Missense_I523L,Silent exm244724 2 179248772 [A/G] NM_032523,NM_001201481,NM_001201482,NM_001201480,NM_145739,NR_031666 OSBPL6,OSBPL6,OSBPL6,OSBPL6,OSBPL6,MIR548N EXON Missense_V628I,Missense_V597I,Missense_V592I,Missense_V653I,Missense_V632I,Silent exm244741 2 179255858 [A/G] NM_032523,NM_001201481,NM_001201482,NM_001201480,NM_145739,NR_031666 OSBPL6,OSBPL6,OSBPL6,OSBPL6,OSBPL6,MIR548N EXON Missense_G787E,Missense_G756E,Missense_G751E,Missense_G812E,Missense_G791E,Silent exm2236651 2 179255914 [T/G] NM_032523,NM_001201481,NM_001201482,NM_001201480,NM_145739,NR_031666 OSBPL6,OSBPL6,OSBPL6,OSBPL6,OSBPL6,MIR548N EXON Missense_A806S,Missense_A775S,Missense_A770S,Missense_A831S,Missense_A810S,Silent exm2273364 2 179260310 [T/C] NM_032523,NM_001201481,NM_001201482,NM_001201480,NM_145739,NR_031666 OSBPL6,OSBPL6,OSBPL6,OSBPL6,OSBPL6,MIR548N EXON Silent,Silent,Silent,Silent,Silent,Silent exm2269183 2 179287834 [T/C] NR_031666 MIR548N Silent exm244775 2 179300979 [T/A] NR_031666,NM_003690,NM_001139518,NM_001139517 MIR548N,PRKRA,PRKRA,PRKRA EXON Silent,Missense_I226N,Missense_I201N,Missense_I215N exm244776 2 179300991 [A/G] NR_031666,NM_003690,NM_001139518,NM_001139517 MIR548N,PRKRA,PRKRA,PRKRA EXON Silent,Missense_P222L,Missense_P197L,Missense_P211L exm244795 2 179309165 [A/G] NR_031666,NM_003690,NM_001139518,NM_001139517 MIR548N,PRKRA,PRKRA,PRKRA EXON Silent,Missense_P127L,Missense_P102L,Missense_P116L exm244817 2 179315031 [T/C] NR_031666,NM_003690,NM_001139518,NM_001139517 MIR548N,PRKRA,PRKRA,PRKRA EXON Silent,Missense_D58G,Missense_D33G,Missense_D47G exm244831 2 179315726 [A/G] NR_031666,NM_003690 MIR548N,PRKRA EXON Silent,Missense_P11L exm244841 2 179318222 [A/G] NR_031666,NM_001042702 MIR548N,DFNB59 EXON Silent,Missense_D29G exm244842 2 179318223 [A/C] NR_031666,NM_001042702 MIR548N,DFNB59 EXON Silent,Missense_D29E exm244859 2 179319145 [A/G] NR_031666,NM_001042702 MIR548N,DFNB59 EXON Silent,Missense_V100I exm244896 2 179320828 [T/C] NR_031666,NM_001042702 MIR548N,DFNB59 EXON Silent,Nonsense_R167X exm244961 2 179325123 [T/C] NR_031666,NM_001042702 MIR548N,DFNB59 EXON Silent,Missense_T239M exm244962 2 179325158 [A/G] NR_031666,NM_001042702 MIR548N,DFNB59 EXON Silent,Missense_I251V exm2275617 2 179325735 [C/G] NR_031666,NM_001042702 MIR548N,DFNB59 EXON Silent,Missense_R265G exm244966 2 179325736 [A/G] NR_031666,NM_001042702 MIR548N,DFNB59 EXON Silent,Missense_R265H exm244972 2 179325816 [A/G] NR_031666,NM_001042702 MIR548N,DFNB59 EXON Silent,Missense_G292R exm244988 2 179334494 [A/G] NR_031666,NM_181342,NM_001135212 MIR548N,FKBP7,FKBP7 EXON Silent,Missense_P131L,Missense_P130L exm244999 2 179341790 [A/G] NR_031666,NM_181342,NM_001135212 MIR548N,FKBP7,FKBP7 EXON Silent,Synonymous_Y124Y,Synonymous_Y124Y exm245001 2 179341824 [A/G] NR_031666,NM_181342,NM_001135212 MIR548N,FKBP7,FKBP7 EXON Silent,Missense_I113T,Missense_I113T exm245008 2 179341900 [G/C] NR_031666,NM_181342,NM_001135212 MIR548N,FKBP7,FKBP7 EXON Silent,Missense_G88R,Missense_G88R exm245029 2 179343202 [A/G] NR_031666,NM_181342,NM_001135212 MIR548N,FKBP7,FKBP7 EXON Silent,Missense_F9L,Missense_F9L exm245136 2 179360341 [A/C] NR_031666,NM_019091 MIR548N,PLEKHA3 EXON Silent,Missense_H190P exm245166 2 179368528 [A/G] NR_031666,NM_019091 MIR548N,PLEKHA3 EXON Silent,Missense_A273T exm245201 2 179392182 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_G35891S,Missense_G34250S,Missense_G26826S,Missense_G27018S,Missense_G33323S,Missense_G26951S exm245203 2 179392248 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_S35869G,Missense_S34228G,Missense_S26804G,Missense_S26996G,Missense_S33301G,Missense_S26929G exm245205 2 179392277 [A/G] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_M35859T,Missense_M34218T,Missense_M26794T,Missense_M26986T,Missense_M33291T,Missense_M26919T exm245211 2 179393111 [A/G] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_V35756A,Missense_V34115A,Missense_V26691A,Missense_V26883A,Missense_V33188A,Missense_V26816A exm245217 2 179393389 [G/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_E35697Q,Missense_E34056Q,Missense_E26632Q,Missense_E26824Q,Missense_E33129Q,Missense_E26757Q exm245223 2 179393523 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_R35652Q,Missense_R34011Q,Missense_R26587Q,Missense_R26779Q,Missense_R33084Q,Missense_R26712Q exm245232 2 179393691 [A/G] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_T35596I,Missense_T33955I,Missense_T26531I,Missense_T26723I,Missense_T33028I,Missense_T26656I exm245235 2 179393803 [C/G] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_E35559Q,Missense_E33918Q,Missense_E26494Q,Missense_E26686Q,Missense_E32991Q,Missense_E26619Q exm245237 2 179393859 [A/G] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_I35540T,Missense_I33899T,Missense_I26475T,Missense_I26667T,Missense_I32972T,Missense_I26600T exm245238 2 179393898 [A/T] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_E35527V,Missense_E33886V,Missense_E26462V,Missense_E26654V,Missense_E32959V,Missense_E26587V exm245243 2 179394776 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_K35481R,Missense_K33840R,Missense_K26416R,Missense_K26608R,Missense_K32913R,Missense_K26541R exm245265 2 179395554 [A/G] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_A35263V,Missense_A33622V,Missense_A26198V,Missense_A26390V,Missense_A32695V,Missense_A26323V exm245266 2 179395555 [A/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_A35263S,Missense_A33622S,Missense_A26198S,Missense_A26390S,Missense_A32695S,Missense_A26323S exm245270 2 179395573 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_E35257K,Missense_E33616K,Missense_E26192K,Missense_E26384K,Missense_E32689K,Missense_E26317K exm245278 2 179395813 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_V35177M,Missense_V33536M,Missense_V26112M,Missense_V26304M,Missense_V32609M,Missense_V26237M exm245285 2 179395926 [A/G] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_T35139I,Missense_T33498I,Missense_T26074I,Missense_T26266I,Missense_T32571I,Missense_T26199I exm245293 2 179396162 [G/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_E35060D,Missense_E33419D,Missense_E25995D,Missense_E26187D,Missense_E32492D,Missense_E26120D exm245296 2 179396215 [A/G] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_R35043C,Missense_R33402C,Missense_R25978C,Missense_R26170C,Missense_R32475C,Missense_R26103C exm245306 2 179396568 [T/G] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_E34925A,Missense_E33284A,Missense_E25860A,Missense_E26052A,Missense_E32357A,Missense_E25985A exm245323 2 179396751 [A/G] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_P34864L,Missense_P33223L,Missense_P25799L,Missense_P25991L,Missense_P32296L,Missense_P25924L exm245326 2 179396766 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_R34859Q,Missense_R33218Q,Missense_R25794Q,Missense_R25986Q,Missense_R32291Q,Missense_R25919Q exm245329 2 179396782 [C/G] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_V34854L,Missense_V33213L,Missense_V25789L,Missense_V25981L,Missense_V32286L,Missense_V25914L exm245331 2 179396823 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_R34840Q,Missense_R33199Q,Missense_R25775Q,Missense_R25967Q,Missense_R32272Q,Missense_R25900Q exm245335 2 179396928 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_R34805Q,Missense_R33164Q,Missense_R25740Q,Missense_R25932Q,Missense_R32237Q,Missense_R25865Q exm245336 2 179396965 [T/G] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_M34793L,Missense_M33152L,Missense_M25728L,Missense_M25920L,Missense_M32225L,Missense_M25853L exm245337 2 179396977 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_E34789K,Missense_E33148K,Missense_E25724K,Missense_E25916K,Missense_E32221K,Missense_E25849K exm245341 2 179397060 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_R34761Q,Missense_R33120Q,Missense_R25696Q,Missense_R25888Q,Missense_R32193Q,Missense_R25821Q exm245343 2 179397091 [G/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_A34751P,Missense_A33110P,Missense_A25686P,Missense_A25878P,Missense_A32183P,Missense_A25811P exm2236657 2 179397127 [A/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_A34739S,Missense_A33098S,Missense_A25674S,Missense_A25866S,Missense_A32171S,Missense_A25799S exm245364 2 179397432 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_R34637Q,Missense_R32996Q,Missense_R25572Q,Missense_R25764Q,Missense_R32069Q,Missense_R25697Q exm245365 2 179397433 [A/G] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_R34637W,Missense_R32996W,Missense_R25572W,Missense_R25764W,Missense_R32069W,Missense_R25697W exm245366 2 179397435 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_R34636H,Missense_R32995H,Missense_R25571H,Missense_R25763H,Missense_R32068H,Missense_R25696H exm245370 2 179397561 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_R34594H,Missense_R32953H,Missense_R25529H,Missense_R25721H,Missense_R32026H,Missense_R25654H exm245372 2 179397654 [A/G] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_V34563A,Missense_V32922A,Missense_V25498A,Missense_V25690A,Missense_V31995A,Missense_V25623A exm245386 2 179397979 [A/G] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_R34455C,Missense_R32814C,Missense_R25390C,Missense_R25582C,Missense_R31887C,Missense_R25515C exm245390 2 179398050 [A/G] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_T34431M,Missense_T32790M,Missense_T25366M,Missense_T25558M,Missense_T31863M,Missense_T25491M exm245404 2 179398509 [A/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_G34278V,Missense_G32637V,Missense_G25213V,Missense_G25405V,Missense_G31710V,Missense_G25338V exm245408 2 179398591 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_M34251V,Missense_M32610V,Missense_M25186V,Missense_M25378V,Missense_M31683V,Missense_M25311V exm245414 2 179398747 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_I34199V,Missense_I32558V,Missense_I25134V,Missense_I25326V,Missense_I31631V,Missense_I25259V exm245418 2 179398818 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_R34175Q,Missense_R32534Q,Missense_R25110Q,Missense_R25302Q,Missense_R31607Q,Missense_R25235Q exm245419 2 179398822 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_V34174I,Missense_V32533I,Missense_V25109I,Missense_V25301I,Missense_V31606I,Missense_V25234I exm245426 2 179399071 [A/G] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_R34091W,Missense_R32450W,Missense_R25026W,Missense_R25218W,Missense_R31523W,Missense_R25151W exm245441 2 179399406 [C/G] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_P33979R,Missense_P32338R,Missense_P24914R,Missense_P25106R,Missense_P31411R,Missense_P25039R exm245444 2 179399451 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_R33964H,Missense_R32323H,Missense_R24899H,Missense_R25091H,Missense_R31396H,Missense_R25024H exm245446 2 179399539 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_I33935V,Missense_I32294V,Missense_I24870V,Missense_I25062V,Missense_I31367V,Missense_I24995V exm245447 2 179399576 [G/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_Q33922H,Missense_Q32281H,Missense_Q24857H,Missense_Q25049H,Missense_Q31354H,Missense_Q24982H exm2273843 2 179399634 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_R33903H,Missense_R32262H,Missense_R24838H,Missense_R25030H,Missense_R31335H,Missense_R24963H exm245451 2 179399677 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_V33889I,Missense_V32248I,Missense_V24824I,Missense_V25016I,Missense_V31321I,Missense_V24949I exm245458 2 179399964 [A/T] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_D33793V,Missense_D32152V,Missense_D24728V,Missense_D24920V,Missense_D31225V,Missense_D24853V exm245463 2 179400097 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_V33749M,Missense_V32108M,Missense_V24684M,Missense_V24876M,Missense_V31181M,Missense_V24809M exm245465 2 179400130 [A/G] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_R33738C,Missense_R32097C,Missense_R24673C,Missense_R24865C,Missense_R31170C,Missense_R24798C exm245483 2 179400895 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_V33527I,Missense_V31886I,Missense_V24462I,Missense_V24654I,Missense_V30959I,Missense_V24587I exm245484 2 179401015 [A/G] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_P33487S,Missense_P31846S,Missense_P24422S,Missense_P24614S,Missense_P30919S,Missense_P24547S exm245488 2 179401074 [A/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_V33467G,Missense_V31826G,Missense_V24402G,Missense_V24594G,Missense_V30899G,Missense_V24527G exm245497 2 179401248 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_C33409Y,Missense_C31768Y,Missense_C24344Y,Missense_C24536Y,Missense_C30841Y,Missense_C24469Y exm245499 2 179401740 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_V33366I,Missense_V31725I,Missense_V24301I,Missense_V24493I,Missense_V30798I,Missense_V24426I exm245500 2 179401742 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_R33365Q,Missense_R31724Q,Missense_R24300Q,Missense_R24492Q,Missense_R30797Q,Missense_R24425Q exm245509 2 179401914 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_A33308T,Missense_A31667T,Missense_A24243T,Missense_A24435T,Missense_A30740T,Missense_A24368T exm245510 2 179401935 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_E33301K,Missense_E31660K,Missense_E24236K,Missense_E24428K,Missense_E30733K,Missense_E24361K exm245540 2 179403525 [T/A] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_S33011T,Missense_S31370T,Missense_S23946T,Missense_S24138T,Missense_S30443T,Missense_S24071T exm245545 2 179403750 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_R32971H,Missense_R31330H,Missense_R23906H,Missense_R24098H,Missense_R30403H,Missense_R24031H exm245546 2 179403769 [C/G] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_D32965H,Missense_D31324H,Missense_D23900H,Missense_D24092H,Missense_D30397H,Missense_D24025H exm245552 2 179403853 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_K32937E,Missense_K31296E,Missense_K23872E,Missense_K24064E,Missense_K30369E,Missense_K23997E exm2236662 2 179403873 [T/G] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_T32930K,Missense_T31289K,Missense_T23865K,Missense_T24057K,Missense_T30362K,Missense_T23990K exm245557 2 179403946 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_V32906I,Missense_V31265I,Missense_V23841I,Missense_V24033I,Missense_V30338I,Missense_V23966I exm245558 2 179403967 [T/G] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_P32899T,Missense_P31258T,Missense_P23834T,Missense_P24026T,Missense_P30331T,Missense_P23959T exm245559 2 179404187 [A/G] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_R32869C,Missense_R31228C,Missense_R23804C,Missense_R23996C,Missense_R30301C,Missense_R23929C exm245561 2 179404201 [A/G] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_V32864A,Missense_V31223A,Missense_V23799A,Missense_V23991A,Missense_V30296A,Missense_V23924A exm245564 2 179404292 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_E32834K,Missense_E31193K,Missense_E23769K,Missense_E23961K,Missense_E30266K,Missense_E23894K exm245567 2 179404402 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_N32797S,Missense_N31156S,Missense_N23732S,Missense_N23924S,Missense_N30229S,Missense_N23857S exm245571 2 179404498 [C/G] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_A32765G,Missense_A31124G,Missense_A23700G,Missense_A23892G,Missense_A30197G,Missense_A23825G exm245572 2 179404525 [A/G] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_T32756I,Missense_T31115I,Missense_T23691I,Missense_T23883I,Missense_T30188I,Missense_T23816I exm245573 2 179404550 [A/G] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_R32748C,Missense_R31107C,Missense_R23683C,Missense_R23875C,Missense_R30180C,Missense_R23808C exm245574 2 179404567 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_G32742D,Missense_G31101D,Missense_G23677D,Missense_G23869D,Missense_G30174D,Missense_G23802D exm245577 2 179404628 [A/T] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_I32722F,Missense_I31081F,Missense_I23657F,Missense_I23849F,Missense_I30154F,Missense_I23782F exm245598 2 179406161 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_R32548H,Missense_R30907H,Missense_R23483H,Missense_R23675H,Missense_R29980H,Missense_R23608H exm245600 2 179406191 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_R32538H,Missense_R30897H,Missense_R23473H,Missense_R23665H,Missense_R29970H,Missense_R23598H exm245604 2 179406266 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_R32513H,Missense_R30872H,Missense_R23448H,Missense_R23640H,Missense_R29945H,Missense_R23573H exm245608 2 179406993 [A/G] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_I32497T,Missense_I30856T,Missense_I23432T,Missense_I23624T,Missense_I29929T,Missense_I23557T exm245626 2 179407583 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_R32333H,Missense_R30692H,Missense_R23268H,Missense_R23460H,Missense_R29765H,Missense_R23393H exm245628 2 179407592 [A/G] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_I32330T,Missense_I30689T,Missense_I23265T,Missense_I23457T,Missense_I29762T,Missense_I23390T exm245630 2 179407637 [A/G] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_T32315I,Missense_T30674I,Missense_T23250I,Missense_T23442I,Missense_T29747I,Missense_T23375I exm245633 2 179407675 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Synonymous_V32302V,Synonymous_V30661V,Synonymous_V23237V,Synonymous_V23429V,Synonymous_V29734V,Synonymous_V23362V exm245634 2 179407808 [A/G] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Nonsense_Q32298X,Nonsense_Q30657X,Nonsense_Q23233X,Nonsense_Q23425X,Nonsense_Q29730X,Nonsense_Q23358X exm245635 2 179407817 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_V32295M,Missense_V30654M,Missense_V23230M,Missense_V23422M,Missense_V29727M,Missense_V23355M exm2275618 2 179408636 [C/G] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_D32079H,Missense_D30438H,Missense_D23014H,Missense_D23206H,Missense_D29511H,Missense_D23139H exm245654 2 179408699 [A/G] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_R32058W,Missense_R30417W,Missense_R22993W,Missense_R23185W,Missense_R29490W,Missense_R23118W exm245655 2 179408713 [A/G] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_I32053T,Missense_I30412T,Missense_I22988T,Missense_I23180T,Missense_I29485T,Missense_I23113T exm245659 2 179408773 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_R32033H,Missense_R30392H,Missense_R22968H,Missense_R23160H,Missense_R29465H,Missense_R23093H exm245661 2 179408940 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_V32006M,Missense_V30365M,Missense_V22941M,Missense_V23133M,Missense_V29438M,Missense_V23066M exm245674 2 179410115 [A/G] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_Y31908H,Missense_Y30267H,Missense_Y22843H,Missense_Y23035H,Missense_Y29340H,Missense_Y22968H exm245676 2 179410184 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_A31885T,Missense_A30244T,Missense_A22820T,Missense_A23012T,Missense_A29317T,Missense_A22945T exm245680 2 179410255 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_Y31861C,Missense_Y30220C,Missense_Y22796C,Missense_Y22988C,Missense_Y29293C,Missense_Y22921C exm245683 2 179410282 [A/G] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_L31852P,Missense_L30211P,Missense_L22787P,Missense_L22979P,Missense_L29284P,Missense_L22912P exm245696 2 179410693 [A/G] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_I31757T,Missense_I30116T,Missense_I22692T,Missense_I22884T,Missense_I29189T,Missense_I22817T exm245702 2 179410721 [A/G] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_R31748C,Missense_R30107C,Missense_R22683C,Missense_R22875C,Missense_R29180C,Missense_R22808C exm245704 2 179410744 [A/G] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_I31740T,Missense_I30099T,Missense_I22675T,Missense_I22867T,Missense_I29172T,Missense_I22800T exm245710 2 179411011 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_S31683G,Missense_S30042G,Missense_S22618G,Missense_S22810G,Missense_S29115G,Missense_S22743G exm245711 2 179411023 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_D31679N,Missense_D30038N,Missense_D22614N,Missense_D22806N,Missense_D29111N,Missense_D22739N exm245717 2 179411207 [T/A] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_D31617E,Missense_D29976E,Missense_D22552E,Missense_D22744E,Missense_D29049E,Missense_D22677E exm245728 2 179411522 [A/G] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_R31545C,Missense_R29904C,Missense_R22480C,Missense_R22672C,Missense_R28977C,Missense_R22605C exm245731 2 179411551 [A/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_G31535V,Missense_G29894V,Missense_G22470V,Missense_G22662V,Missense_G28967V,Missense_G22595V exm245745 2 179411969 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_R31428H,Missense_R29787H,Missense_R22363H,Missense_R22555H,Missense_R28860H,Missense_R22488H exm245753 2 179412307 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_R31349H,Missense_R29708H,Missense_R22284H,Missense_R22476H,Missense_R28781H,Missense_R22409H exm2236667 2 179412344 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_G31337R,Missense_G29696R,Missense_G22272R,Missense_G22464R,Missense_G28769R,Missense_G22397R exm245757 2 179412385 [A/G] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_A31323V,Missense_A29682V,Missense_A22258V,Missense_A22450V,Missense_A28755V,Missense_A22383V exm245759 2 179412418 [A/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_V31312G,Missense_V29671G,Missense_V22247G,Missense_V22439G,Missense_V28744G,Missense_V22372G exm245760 2 179412452 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_V31301I,Missense_V29660I,Missense_V22236I,Missense_V22428I,Missense_V28733I,Missense_V22361I exm245765 2 179412550 [T/G] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_K31268T,Missense_K29627T,Missense_K22203T,Missense_K22395T,Missense_K28700T,Missense_K22328T exm245788 2 179413109 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_E31082K,Missense_E29441K,Missense_E22017K,Missense_E22209K,Missense_E28514K,Missense_E22142K exm245790 2 179413138 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_R31072H,Missense_R29431H,Missense_R22007H,Missense_R22199H,Missense_R28504H,Missense_R22132H exm245801 2 179413348 [A/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_S31002I,Missense_S29361I,Missense_S21937I,Missense_S22129I,Missense_S28434I,Missense_S22062I exm245812 2 179413669 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_R30895Q,Missense_R29254Q,Missense_R21830Q,Missense_R22022Q,Missense_R28327Q,Missense_R21955Q exm245813 2 179413763 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_D30864N,Missense_D29223N,Missense_D21799N,Missense_D21991N,Missense_D28296N,Missense_D21924N exm245815 2 179413816 [A/G] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_V30846A,Missense_V29205A,Missense_V21781A,Missense_V21973A,Missense_V28278A,Missense_V21906A exm245824 2 179413991 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_G30788S,Missense_G29147S,Missense_G21723S,Missense_G21915S,Missense_G28220S,Missense_G21848S exm245825 2 179414020 [G/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_T30778R,Missense_T29137R,Missense_T21713R,Missense_T21905R,Missense_T28210R,Missense_T21838R exm245829 2 179414162 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_I30731V,Missense_I29090V,Missense_I21666V,Missense_I21858V,Missense_I28163V,Missense_I21791V exm245830 2 179414177 [A/G] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_P30726S,Missense_P29085S,Missense_P21661S,Missense_P21853S,Missense_P28158S,Missense_P21786S exm245831 2 179414298 [A/G] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Synonymous_Y30717Y,Synonymous_Y29076Y,Synonymous_Y21652Y,Synonymous_Y21844Y,Synonymous_Y28149Y,Synonymous_Y21777Y exm245833 2 179414318 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_V30711M,Missense_V29070M,Missense_V21646M,Missense_V21838M,Missense_V28143M,Missense_V21771M exm245841 2 179414512 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_N30646S,Missense_N29005S,Missense_N21581S,Missense_N21773S,Missense_N28078S,Missense_N21706S exm245847 2 179414565 [A/T] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_R30628S,Missense_R28987S,Missense_R21563S,Missense_R21755S,Missense_R28060S,Missense_R21688S exm245854 2 179414964 [A/T] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_D30534V,Missense_D28893V,Missense_D21469V,Missense_D21661V,Missense_D27966V,Missense_D21594V exm245855 2 179414976 [A/G] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_P30530L,Missense_P28889L,Missense_P21465L,Missense_P21657L,Missense_P27962L,Missense_P21590L exm245856 2 179414992 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_I30525V,Missense_I28884V,Missense_I21460V,Missense_I21652V,Missense_I27957V,Missense_I21585V exm245874 2 179416454 [T/G] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_E30391D,Missense_E28750D,Missense_E21326D,Missense_E21518D,Missense_E27823D,Missense_E21451D exm245880 2 179416659 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_R30323K,Missense_R28682K,Missense_R21258K,Missense_R21450K,Missense_R27755K,Missense_R21383K exm245883 2 179416801 [A/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_C30276G,Missense_C28635G,Missense_C21211G,Missense_C21403G,Missense_C27708G,Missense_C21336G exm245885 2 179416834 [A/G] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_R30265W,Missense_R28624W,Missense_R21200W,Missense_R21392W,Missense_R27697W,Missense_R21325W exm245889 2 179416879 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_E30250K,Missense_E28609K,Missense_E21185K,Missense_E21377K,Missense_E27682K,Missense_E21310K exm245892 2 179416989 [A/G] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_I30213T,Missense_I28572T,Missense_I21148T,Missense_I21340T,Missense_I27645T,Missense_I21273T exm245897 2 179417091 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_R30179H,Missense_R28538H,Missense_R21114H,Missense_R21306H,Missense_R27611H,Missense_R21239H exm245901 2 179417245 [T/A] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_T30128S,Missense_T28487S,Missense_T21063S,Missense_T21255S,Missense_T27560S,Missense_T21188S exm245905 2 179417400 [A/G] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_T30076M,Missense_T28435M,Missense_T21011M,Missense_T21203M,Missense_T27508M,Missense_T21136M exm245911 2 179417523 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_R30035H,Missense_R28394H,Missense_R20970H,Missense_R21162H,Missense_R27467H,Missense_R21095H exm245927 2 179417919 [G/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_T29903S,Missense_T28262S,Missense_T20838S,Missense_T21030S,Missense_T27335S,Missense_T20963S exm245931 2 179418306 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_R29809Q,Missense_R28168Q,Missense_R20744Q,Missense_R20936Q,Missense_R27241Q,Missense_R20869Q exm245934 2 179418346 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_V29796M,Missense_V28155M,Missense_V20731M,Missense_V20923M,Missense_V27228M,Missense_V20856M exm245935 2 179418415 [A/T] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_I29773L,Missense_I28132L,Missense_I20708L,Missense_I20900L,Missense_I27205L,Missense_I20833L exm245936 2 179418418 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_E29772K,Missense_E28131K,Missense_E20707K,Missense_E20899K,Missense_E27204K,Missense_E20832K exm245940 2 179418502 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_A29744T,Missense_A28103T,Missense_A20679T,Missense_A20871T,Missense_A27176T,Missense_A20804T exm245958 2 179419341 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_R29578H,Missense_R27937H,Missense_R20513H,Missense_R20705H,Missense_R27010H,Missense_R20638H exm245959 2 179419353 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_R29574H,Missense_R27933H,Missense_R20509H,Missense_R20701H,Missense_R27006H,Missense_R20634H exm245960 2 179419354 [A/G] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_R29574C,Missense_R27933C,Missense_R20509C,Missense_R20701C,Missense_R27006C,Missense_R20634C exm245961 2 179419366 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_I29570V,Missense_I27929V,Missense_I20505V,Missense_I20697V,Missense_I27002V,Missense_I20630V exm245962 2 179419369 [A/T] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_Y29569N,Missense_Y27928N,Missense_Y20504N,Missense_Y20696N,Missense_Y27001N,Missense_Y20629N exm245964 2 179419389 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_G29562D,Missense_G27921D,Missense_G20497D,Missense_G20689D,Missense_G26994D,Missense_G20622D exm245965 2 179419408 [A/G] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_R29556W,Missense_R27915W,Missense_R20491W,Missense_R20683W,Missense_R26988W,Missense_R20616W exm245972 2 179419690 [A/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_L29499R,Missense_L27858R,Missense_L20434R,Missense_L20626R,Missense_L26931R,Missense_L20559R exm245976 2 179419727 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_V29487M,Missense_V27846M,Missense_V20422M,Missense_V20614M,Missense_V26919M,Missense_V20547M exm245978 2 179419792 [A/G] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_S29465F,Missense_S27824F,Missense_S20400F,Missense_S20592F,Missense_S26897F,Missense_S20525F exm245979 2 179419846 [G/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_T29447R,Missense_T27806R,Missense_T20382R,Missense_T20574R,Missense_T26879R,Missense_T20507R exm245981 2 179421584 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_D29433N,Missense_D27792N,Missense_D20368N,Missense_D20560N,Missense_D26865N,Missense_D20493N exm245984 2 179421694 [A/G] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_I29396T,Missense_I27755T,Missense_I20331T,Missense_I20523T,Missense_I26828T,Missense_I20456T exm2236670 2 179421775 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_G29369D,Missense_G27728D,Missense_G20304D,Missense_G20496D,Missense_G26801D,Missense_G20429D exm245987 2 179421791 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_G29364S,Missense_G27723S,Missense_G20299S,Missense_G20491S,Missense_G26796S,Missense_G20424S exm245988 2 179421853 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_R29343H,Missense_R27702H,Missense_R20278H,Missense_R20470H,Missense_R26775H,Missense_R20403H exm245992 2 179422111 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_R29293H,Missense_R27652H,Missense_R20228H,Missense_R20420H,Missense_R26725H,Missense_R20353H exm245993 2 179422112 [A/G] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_R29293C,Missense_R27652C,Missense_R20228C,Missense_R20420C,Missense_R26725C,Missense_R20353C exm245994 2 179422181 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_V29270I,Missense_V27629I,Missense_V20205I,Missense_V20397I,Missense_V26702I,Missense_V20330I exm246002 2 179422458 [T/A] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_Y29208F,Missense_Y27567F,Missense_Y20143F,Missense_Y20335F,Missense_Y26640F,Missense_Y20268F exm246003 2 179422470 [C/G] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_T29204R,Missense_T27563R,Missense_T20139R,Missense_T20331R,Missense_T26636R,Missense_T20264R exm246009 2 179422669 [T/G] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_P29138T,Missense_P27497T,Missense_P20073T,Missense_P20265T,Missense_P26570T,Missense_P20198T exm246013 2 179422801 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_E29094K,Missense_E27453K,Missense_E20029K,Missense_E20221K,Missense_E26526K,Missense_E20154K exm246019 2 179422944 [A/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_M29046R,Missense_M27405R,Missense_M19981R,Missense_M20173R,Missense_M26478R,Missense_M20106R exm246026 2 179423251 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_V28979I,Missense_V27338I,Missense_V19914I,Missense_V20106I,Missense_V26411I,Missense_V20039I exm246028 2 179423313 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_S28958N,Missense_S27317N,Missense_S19893N,Missense_S20085N,Missense_S26390N,Missense_S20018N exm246039 2 179424388 [A/G] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_T28824I,Missense_T27183I,Missense_T19759I,Missense_T19951I,Missense_T26256I,Missense_T19884I exm246041 2 179424425 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_I28812V,Missense_I27171V,Missense_I19747V,Missense_I19939V,Missense_I26244V,Missense_I19872V exm246047 2 179424742 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_R28706Q,Missense_R27065Q,Missense_R19641Q,Missense_R19833Q,Missense_R26138Q,Missense_R19766Q exm246052 2 179424883 [T/G] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_K28659T,Missense_K27018T,Missense_K19594T,Missense_K19786T,Missense_K26091T,Missense_K19719T exm246059 2 179425114 [T/A] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_I28582K,Missense_I26941K,Missense_I19517K,Missense_I19709K,Missense_I26014K,Missense_I19642K exm246060 2 179425168 [A/T] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_K28564I,Missense_K26923I,Missense_K19499I,Missense_K19691I,Missense_K25996I,Missense_K19624I exm246061 2 179425343 [T/G] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_Q28506K,Missense_Q26865K,Missense_Q19441K,Missense_Q19633K,Missense_Q25938K,Missense_Q19566K exm246068 2 179425453 [C/G] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_S28469C,Missense_S26828C,Missense_S19404C,Missense_S19596C,Missense_S25901C,Missense_S19529C exm246077 2 179425744 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_G28372E,Missense_G26731E,Missense_G19307E,Missense_G19499E,Missense_G25804E,Missense_G19432E exm246084 2 179425936 [T/G] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_Q28308P,Missense_Q26667P,Missense_Q19243P,Missense_Q19435P,Missense_Q25740P,Missense_Q19368P exm246085 2 179425966 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_R28298Q,Missense_R26657Q,Missense_R19233Q,Missense_R19425Q,Missense_R25730Q,Missense_R19358Q exm246086 2 179425988 [A/G] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_R28291C,Missense_R26650C,Missense_R19226C,Missense_R19418C,Missense_R25723C,Missense_R19351C exm246094 2 179426219 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_M28214V,Missense_M26573V,Missense_M19149V,Missense_M19341V,Missense_M25646V,Missense_M19274V exm246098 2 179426398 [A/G] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_P28154L,Missense_P26513L,Missense_P19089L,Missense_P19281L,Missense_P25586L,Missense_P19214L exm246105 2 179426507 [A/G] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_R28118C,Missense_R26477C,Missense_R19053C,Missense_R19245C,Missense_R25550C,Missense_R19178C exm246107 2 179426596 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_S28088N,Missense_S26447N,Missense_S19023N,Missense_S19215N,Missense_S25520N,Missense_S19148N exm246110 2 179426711 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_I28050V,Missense_I26409V,Missense_I18985V,Missense_I19177V,Missense_I25482V,Missense_I19110V exm246117 2 179427119 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_T27914A,Missense_T26273A,Missense_T18849A,Missense_T19041A,Missense_T25346A,Missense_T18974A exm246120 2 179427241 [A/G] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_V27873A,Missense_V26232A,Missense_V18808A,Missense_V19000A,Missense_V25305A,Missense_V18933A exm246128 2 179427536 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_I27775V,Missense_I26134V,Missense_I18710V,Missense_I18902V,Missense_I25207V,Missense_I18835V exm246131 2 179427560 [T/G] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_P27767T,Missense_P26126T,Missense_P18702T,Missense_P18894T,Missense_P25199T,Missense_P18827T exm246133 2 179427580 [T/A] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_N27760I,Missense_N26119I,Missense_N18695I,Missense_N18887I,Missense_N25192I,Missense_N18820I exm246135 2 179427688 [A/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_V27724G,Missense_V26083G,Missense_V18659G,Missense_V18851G,Missense_V25156G,Missense_V18784G exm246137 2 179427796 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_R27688H,Missense_R26047H,Missense_R18623H,Missense_R18815H,Missense_R25120H,Missense_R18748H exm246139 2 179427803 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_V27686I,Missense_V26045I,Missense_V18621I,Missense_V18813I,Missense_V25118I,Missense_V18746I exm246142 2 179427878 [A/G] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_P27661S,Missense_P26020S,Missense_P18596S,Missense_P18788S,Missense_P25093S,Missense_P18721S exm246148 2 179428049 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_G27604S,Missense_G25963S,Missense_G18539S,Missense_G18731S,Missense_G25036S,Missense_G18664S exm246149 2 179428061 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_A27600T,Missense_A25959T,Missense_A18535T,Missense_A18727T,Missense_A25032T,Missense_A18660T exm246153 2 179428168 [A/G] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_A27564V,Missense_A25923V,Missense_A18499V,Missense_A18691V,Missense_A24996V,Missense_A18624V exm246158 2 179428299 [T/G] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_N27520K,Missense_N25879K,Missense_N18455K,Missense_N18647K,Missense_N24952K,Missense_N18580K exm246161 2 179428370 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_G27497R,Missense_G25856R,Missense_G18432R,Missense_G18624R,Missense_G24929R,Missense_G18557R exm246166 2 179428457 [T/G] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_K27468Q,Missense_K25827Q,Missense_K18403Q,Missense_K18595Q,Missense_K24900Q,Missense_K18528Q exm246167 2 179428474 [T/G] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_T27462K,Missense_T25821K,Missense_T18397K,Missense_T18589K,Missense_T24894K,Missense_T18522K exm246177 2 179428901 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_A27320T,Missense_A25679T,Missense_A18255T,Missense_A18447T,Missense_A24752T,Missense_A18380T exm246179 2 179428960 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_R27300H,Missense_R25659H,Missense_R18235H,Missense_R18427H,Missense_R24732H,Missense_R18360H exm246182 2 179428990 [C/G] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_G27290A,Missense_G25649A,Missense_G18225A,Missense_G18417A,Missense_G24722A,Missense_G18350A exm246193 2 179429320 [A/G] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_I27180T,Missense_I25539T,Missense_I18115T,Missense_I18307T,Missense_I24612T,Missense_I18240T exm246195 2 179429332 [A/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_R27176L,Missense_R25535L,Missense_R18111L,Missense_R18303L,Missense_R24608L,Missense_R18236L exm246199 2 179429387 [C/G] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_P27158A,Missense_P25517A,Missense_P18093A,Missense_P18285A,Missense_P24590A,Missense_P18218A exm246201 2 179429557 [A/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_G27101V,Missense_G25460V,Missense_G18036V,Missense_G18228V,Missense_G24533V,Missense_G18161V exm246203 2 179429612 [A/G] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_S27083P,Missense_S25442P,Missense_S18018P,Missense_S18210P,Missense_S24515P,Missense_S18143P exm2254811 2 179429802 [A/G] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Synonymous_T27019T,Synonymous_T25378T,Synonymous_T17954T,Synonymous_T18146T,Synonymous_T24451T,Synonymous_T18079T exm246232 2 179430158 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_I26901V,Missense_I25260V,Missense_I17836V,Missense_I18028V,Missense_I24333V,Missense_I17961V exm246240 2 179430397 [A/G] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_P26821L,Missense_P25180L,Missense_P17756L,Missense_P17948L,Missense_P24253L,Missense_P17881L exm246244 2 179430454 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_E26802G,Missense_E25161G,Missense_E17737G,Missense_E17929G,Missense_E24234G,Missense_E17862G exm246258 2 179430997 [A/G] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_T26621M,Missense_T24980M,Missense_T17556M,Missense_T17748M,Missense_T24053M,Missense_T17681M exm246260 2 179431076 [G/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_D26595H,Missense_D24954H,Missense_D17530H,Missense_D17722H,Missense_D24027H,Missense_D17655H exm246262 2 179431159 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_N26567S,Missense_N24926S,Missense_N17502S,Missense_N17694S,Missense_N23999S,Missense_N17627S exm246270 2 179431247 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_T26538A,Missense_T24897A,Missense_T17473A,Missense_T17665A,Missense_T23970A,Missense_T17598A exm246275 2 179431349 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_I26504V,Missense_I24863V,Missense_I17439V,Missense_I17631V,Missense_I23936V,Missense_I17564V exm246289 2 179431540 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_R26440H,Missense_R24799H,Missense_R17375H,Missense_R17567H,Missense_R23872H,Missense_R17500H exm246290 2 179431541 [A/G] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_R26440C,Missense_R24799C,Missense_R17375C,Missense_R17567C,Missense_R23872C,Missense_R17500C exm246292 2 179431594 [A/G] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_I26422T,Missense_I24781T,Missense_I17357T,Missense_I17549T,Missense_I23854T,Missense_I17482T exm246293 2 179431633 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_R26409H,Missense_R24768H,Missense_R17344H,Missense_R17536H,Missense_R23841H,Missense_R17469H exm246305 2 179431945 [C/G] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_S26305C,Missense_S24664C,Missense_S17240C,Missense_S17432C,Missense_S23737C,Missense_S17365C exm246307 2 179431967 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_G26298R,Missense_G24657R,Missense_G17233R,Missense_G17425R,Missense_G23730R,Missense_G17358R exm246313 2 179432185 [A/G] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_I26225T,Missense_I24584T,Missense_I17160T,Missense_I17352T,Missense_I23657T,Missense_I17285T exm246322 2 179432474 [A/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_D26129Y,Missense_D24488Y,Missense_D17064Y,Missense_D17256Y,Missense_D23561Y,Missense_D17189Y exm246335 2 179433046 [G/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_W25938S,Missense_W24297S,Missense_W16873S,Missense_W17065S,Missense_W23370S,Missense_W16998S exm246338 2 179433143 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_E25906K,Missense_E24265K,Missense_E16841K,Missense_E17033K,Missense_E23338K,Missense_E16966K exm246341 2 179433205 [A/G] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_I25885T,Missense_I24244T,Missense_I16820T,Missense_I17012T,Missense_I23317T,Missense_I16945T exm246342 2 179433221 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_T25880A,Missense_T24239A,Missense_T16815A,Missense_T17007A,Missense_T23312A,Missense_T16940A exm246348 2 179433580 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_N25760S,Missense_N24119S,Missense_N16695S,Missense_N16887S,Missense_N23192S,Missense_N16820S exm246352 2 179433643 [C/G] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_A25739G,Missense_A24098G,Missense_A16674G,Missense_A16866G,Missense_A23171G,Missense_A16799G exm246362 2 179433872 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_D25663N,Missense_D24022N,Missense_D16598N,Missense_D16790N,Missense_D23095N,Missense_D16723N exm246370 2 179434139 [A/G] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_Y25574H,Missense_Y23933H,Missense_Y16509H,Missense_Y16701H,Missense_Y23006H,Missense_Y16634H exm246372 2 179434186 [A/T] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_D25558V,Missense_D23917V,Missense_D16493V,Missense_D16685V,Missense_D22990V,Missense_D16618V exm246376 2 179434336 [T/G] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_P25508Q,Missense_P23867Q,Missense_P16443Q,Missense_P16635Q,Missense_P22940Q,Missense_P16568Q exm246381 2 179434457 [A/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_V25468L,Missense_V23827L,Missense_V16403L,Missense_V16595L,Missense_V22900L,Missense_V16528L exm246384 2 179434516 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_S25448N,Missense_S23807N,Missense_S16383N,Missense_S16575N,Missense_S22880N,Missense_S16508N exm246397 2 179434808 [A/G] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_W25351R,Missense_W23710R,Missense_W16286R,Missense_W16478R,Missense_W22783R,Missense_W16411R exm246399 2 179434840 [A/T] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_V25340D,Missense_V23699D,Missense_V16275D,Missense_V16467D,Missense_V22772D,Missense_V16400D exm246402 2 179434945 [A/G] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_P25305L,Missense_P23664L,Missense_P16240L,Missense_P16432L,Missense_P22737L,Missense_P16365L exm246427 2 179435498 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_I25121V,Missense_I23480V,Missense_I16056V,Missense_I16248V,Missense_I22553V,Missense_I16181V exm246443 2 179435964 [T/G] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_Q24965H,Missense_Q23324H,Missense_Q15900H,Missense_Q16092H,Missense_Q22397H,Missense_Q16025H exm246444 2 179435968 [A/G] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_P24964L,Missense_P23323L,Missense_P15899L,Missense_P16091L,Missense_P22396L,Missense_P16024L exm246446 2 179436020 [A/G] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_R24947C,Missense_R23306C,Missense_R15882C,Missense_R16074C,Missense_R22379C,Missense_R16007C exm246450 2 179436257 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_I24868V,Missense_I23227V,Missense_I15803V,Missense_I15995V,Missense_I22300V,Missense_I15928V exm246451 2 179436263 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_T24866A,Missense_T23225A,Missense_T15801A,Missense_T15993A,Missense_T22298A,Missense_T15926A exm246453 2 179436346 [C/G] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_G24838A,Missense_G23197A,Missense_G15773A,Missense_G15965A,Missense_G22270A,Missense_G15898A exm246476 2 179437012 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_R24616Q,Missense_R22975Q,Missense_R15551Q,Missense_R15743Q,Missense_R22048Q,Missense_R15676Q exm246478 2 179437034 [C/G] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_E24609Q,Missense_E22968Q,Missense_E15544Q,Missense_E15736Q,Missense_E22041Q,Missense_E15669Q exm246485 2 179437255 [T/G] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_S24535Y,Missense_S22894Y,Missense_S15470Y,Missense_S15662Y,Missense_S21967Y,Missense_S15595Y exm246494 2 179437556 [A/G] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_R24435C,Missense_R22794C,Missense_R15370C,Missense_R15562C,Missense_R21867C,Missense_R15495C exm246498 2 179437691 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_T24390A,Missense_T22749A,Missense_T15325A,Missense_T15517A,Missense_T21822A,Missense_T15450A exm246506 2 179437928 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_T24311A,Missense_T22670A,Missense_T15246A,Missense_T15438A,Missense_T21743A,Missense_T15371A exm246510 2 179438077 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_R24261Q,Missense_R22620Q,Missense_R15196Q,Missense_R15388Q,Missense_R21693Q,Missense_R15321Q exm246511 2 179438093 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_N24256D,Missense_N22615D,Missense_N15191D,Missense_N15383D,Missense_N21688D,Missense_N15316D exm246513 2 179438185 [A/G] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_P24225L,Missense_P22584L,Missense_P15160L,Missense_P15352L,Missense_P21657L,Missense_P15285L exm246515 2 179438272 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_R24196H,Missense_R22555H,Missense_R15131H,Missense_R15323H,Missense_R21628H,Missense_R15256H exm246520 2 179438480 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_E24127K,Missense_E22486K,Missense_E15062K,Missense_E15254K,Missense_E21559K,Missense_E15187K exm246523 2 179438633 [A/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_L24076V,Missense_L22435V,Missense_L15011V,Missense_L15203V,Missense_L21508V,Missense_L15136V exm246524 2 179438677 [A/G] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_M24061T,Missense_M22420T,Missense_M14996T,Missense_M15188T,Missense_M21493T,Missense_M15121T exm246527 2 179438713 [A/G] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_L24049P,Missense_L22408P,Missense_L14984P,Missense_L15176P,Missense_L21481P,Missense_L15109P exm246528 2 179438722 [A/G] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_A24046V,Missense_A22405V,Missense_A14981V,Missense_A15173V,Missense_A21478V,Missense_A15106V exm246534 2 179438866 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_R23998H,Missense_R22357H,Missense_R14933H,Missense_R15125H,Missense_R21430H,Missense_R15058H exm246540 2 179439018 [G/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_K23947N,Missense_K22306N,Missense_K14882N,Missense_K15074N,Missense_K21379N,Missense_K15007N exm246547 2 179439134 [T/G] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_K23909Q,Missense_K22268Q,Missense_K14844Q,Missense_K15036Q,Missense_K21341Q,Missense_K14969Q exm246548 2 179439154 [A/G] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_I23902T,Missense_I22261T,Missense_I14837T,Missense_I15029T,Missense_I21334T,Missense_I14962T exm246554 2 179439490 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_R23790H,Missense_R22149H,Missense_R14725H,Missense_R14917H,Missense_R21222H,Missense_R14850H exm246565 2 179439704 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_I23719V,Missense_I22078V,Missense_I14654V,Missense_I14846V,Missense_I21151V,Missense_I14779V exm246569 2 179439823 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_R23679K,Missense_R22038K,Missense_R14614K,Missense_R14806K,Missense_R21111K,Missense_R14739K exm246575 2 179439907 [A/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_I23651S,Missense_I22010S,Missense_I14586S,Missense_I14778S,Missense_I21083S,Missense_I14711S exm246577 2 179439952 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_R23636H,Missense_R21995H,Missense_R14571H,Missense_R14763H,Missense_R21068H,Missense_R14696H exm246582 2 179440027 [A/G] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_A23611V,Missense_A21970V,Missense_A14546V,Missense_A14738V,Missense_A21043V,Missense_A14671V exm246590 2 179440163 [G/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_G23566R,Missense_G21925R,Missense_G14501R,Missense_G14693R,Missense_G20998R,Missense_G14626R exm246604 2 179440609 [A/G] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_I23417T,Missense_I21776T,Missense_I14352T,Missense_I14544T,Missense_I20849T,Missense_I14477T exm246605 2 179440616 [T/G] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_M23415L,Missense_M21774L,Missense_M14350L,Missense_M14542L,Missense_M20847L,Missense_M14475L exm246624 2 179441038 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_G23274D,Missense_G21633D,Missense_G14209D,Missense_G14401D,Missense_G20706D,Missense_G14334D exm246627 2 179441119 [A/G] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_P23247L,Missense_P21606L,Missense_P14182L,Missense_P14374L,Missense_P20679L,Missense_P14307L exm246629 2 179441295 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_S23226G,Missense_S21585G,Missense_S14161G,Missense_S14353G,Missense_S20658G,Missense_S14286G exm246633 2 179441417 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_R23185Q,Missense_R21544Q,Missense_R14120Q,Missense_R14312Q,Missense_R20617Q,Missense_R14245Q exm246642 2 179441811 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_R23084Q,Missense_R21443Q,Missense_R14019Q,Missense_R14211Q,Missense_R20516Q,Missense_R14144Q exm246647 2 179441917 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_I23049V,Missense_I21408V,Missense_I13984V,Missense_I14176V,Missense_I20481V,Missense_I14109V exm246648 2 179441932 [A/G] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_P23044S,Missense_P21403S,Missense_P13979S,Missense_P14171S,Missense_P20476S,Missense_P14104S exm246651 2 179441959 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_V23035I,Missense_V21394I,Missense_V13970I,Missense_V14162I,Missense_V20467I,Missense_V14095I exm246656 2 179442198 [G/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_G22955A,Missense_G21314A,Missense_G13890A,Missense_G14082A,Missense_G20387A,Missense_G14015A exm246657 2 179442329 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_E22942K,Missense_E21301K,Missense_E13877K,Missense_E14069K,Missense_E20374K,Missense_E14002K exm246661 2 179442361 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_S22931N,Missense_S21290N,Missense_S13866N,Missense_S14058N,Missense_S20363N,Missense_S13991N exm246666 2 179442784 [G/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_A22820P,Missense_A21179P,Missense_A13755P,Missense_A13947P,Missense_A20252P,Missense_A13880P exm246676 2 179443592 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_N22722S,Missense_N21081S,Missense_N13657S,Missense_N13849S,Missense_N20154S,Missense_N13782S exm246697 2 179444289 [A/G] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Synonymous_V22545V,Synonymous_V20904V,Synonymous_V13480V,Synonymous_V13672V,Synonymous_V19977V,Synonymous_V13605V exm246702 2 179444479 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_R22482Q,Missense_R20841Q,Missense_R13417Q,Missense_R13609Q,Missense_R19914Q,Missense_R13542Q exm246703 2 179444692 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_E22441G,Missense_E20800G,Missense_E13376G,Missense_E13568G,Missense_E19873G,Missense_E13501G exm246705 2 179444768 [G/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_A22416P,Missense_A20775P,Missense_A13351P,Missense_A13543P,Missense_A19848P,Missense_A13476P exm246708 2 179444939 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_V22359I,Missense_V20718I,Missense_V13294I,Missense_V13486I,Missense_V19791I,Missense_V13419I exm246712 2 179445129 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_K22326R,Missense_K20685R,Missense_K13261R,Missense_K13453R,Missense_K19758R,Missense_K13386R exm246714 2 179445208 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_V22300I,Missense_V20659I,Missense_V13235I,Missense_V13427I,Missense_V19732I,Missense_V13360I exm246722 2 179446303 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_R22231H,Missense_R20590H,Missense_R13166H,Missense_R13358H,Missense_R19663H,Missense_R13291H exm246723 2 179446322 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_D22225N,Missense_D20584N,Missense_D13160N,Missense_D13352N,Missense_D19657N,Missense_D13285N exm246725 2 179446381 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_R22205K,Missense_R20564K,Missense_R13140K,Missense_R13332K,Missense_R19637K,Missense_R13265K exm246737 2 179446666 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_A22144T,Missense_A20503T,Missense_A13079T,Missense_A13271T,Missense_A19576T,Missense_A13204T exm246745 2 179446924 [A/G] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_R22058C,Missense_R20417C,Missense_R12993C,Missense_R13185C,Missense_R19490C,Missense_R13118C exm246754 2 179447268 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_R21972H,Missense_R20331H,Missense_R12907H,Missense_R13099H,Missense_R19404H,Missense_R13032H exm246756 2 179447754 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_V21926M,Missense_V20285M,Missense_V12861M,Missense_V13053M,Missense_V19358M,Missense_V12986M exm246758 2 179447783 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_R21916Q,Missense_R20275Q,Missense_R12851Q,Missense_R13043Q,Missense_R19348Q,Missense_R12976Q exm246760 2 179447787 [T/G] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_Q21915K,Missense_Q20274K,Missense_Q12850K,Missense_Q13042K,Missense_Q19347K,Missense_Q12975K exm246773 2 179448375 [A/G] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_P21845L,Missense_P20204L,Missense_P12780L,Missense_P12972L,Missense_P19277L,Missense_P12905L exm246774 2 179448393 [A/G] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_A21839V,Missense_A20198V,Missense_A12774V,Missense_A12966V,Missense_A19271V,Missense_A12899V exm246776 2 179448450 [A/G] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_T21820I,Missense_T20179I,Missense_T12755I,Missense_T12947I,Missense_T19252I,Missense_T12880I exm246786 2 179449036 [A/G] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_P21748S,Missense_P20107S,Missense_P12683S,Missense_P12875S,Missense_P19180S,Missense_P12808S exm246792 2 179449131 [A/G] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_S21716L,Missense_S20075L,Missense_S12651L,Missense_S12843L,Missense_S19148L,Missense_S12776L exm246795 2 179449186 [A/G] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_R21698C,Missense_R20057C,Missense_R12633C,Missense_R12825C,Missense_R19130C,Missense_R12758C exm246803 2 179449465 [A/G] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_R21635C,Missense_R19994C,Missense_R12570C,Missense_R12762C,Missense_R19067C,Missense_R12695C exm246804 2 179449470 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_R21633Q,Missense_R19992Q,Missense_R12568Q,Missense_R12760Q,Missense_R19065Q,Missense_R12693Q exm246808 2 179449579 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_V21597M,Missense_V19956M,Missense_V12532M,Missense_V12724M,Missense_V19029M,Missense_V12657M exm246809 2 179449606 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_G21588R,Missense_G19947R,Missense_G12523R,Missense_G12715R,Missense_G19020R,Missense_G12648R exm246811 2 179449687 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_G21561S,Missense_G19920S,Missense_G12496S,Missense_G12688S,Missense_G18993S,Missense_G12621S exm246813 2 179449817 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_I21552V,Missense_I19911V,Missense_I12487V,Missense_I12679V,Missense_I18984V,Missense_I12612V exm246819 2 179451420 [A/G] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_T21403I,Missense_T19762I,Missense_T12338I,Missense_T12530I,Missense_T18835I,Missense_T12463I exm246822 2 179451454 [A/G] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_R21392C,Missense_R19751C,Missense_R12327C,Missense_R12519C,Missense_R18824C,Missense_R12452C exm246831 2 179452058 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_G21294S,Missense_G19653S,Missense_G12229S,Missense_G12421S,Missense_G18726S,Missense_G12354S exm246833 2 179452061 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_D21293N,Missense_D19652N,Missense_D12228N,Missense_D12420N,Missense_D18725N,Missense_D12353N exm246839 2 179452138 [A/G] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_P21267L,Missense_P19626L,Missense_P12202L,Missense_P12394L,Missense_P18699L,Missense_P12327L exm246845 2 179452447 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_I21197V,Missense_I19556V,Missense_I12132V,Missense_I12324V,Missense_I18629V,Missense_I12257V exm246853 2 179452695 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_A21147T,Missense_A19506T,Missense_A12082T,Missense_A12274T,Missense_A18579T,Missense_A12207T exm246854 2 179452782 [A/G] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_R21118W,Missense_R19477W,Missense_R12053W,Missense_R12245W,Missense_R18550W,Missense_R12178W exm246866 2 179453426 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_R21009Q,Missense_R19368Q,Missense_R11944Q,Missense_R12136Q,Missense_R18441Q,Missense_R12069Q exm246867 2 179453429 [A/G] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_T21008I,Missense_T19367I,Missense_T11943I,Missense_T12135I,Missense_T18440I,Missense_T12068I exm246892 2 179453880 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_T20858A,Missense_T19217A,Missense_T11793A,Missense_T11985A,Missense_T18290A,Missense_T11918A exm246898 2 179453945 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_R20836Q,Missense_R19195Q,Missense_R11771Q,Missense_R11963Q,Missense_R18268Q,Missense_R11896Q exm246900 2 179454020 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_D20811G,Missense_D19170G,Missense_D11746G,Missense_D11938G,Missense_D18243G,Missense_D11871G exm246914 2 179454530 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_R20641Q,Missense_R19000Q,Missense_R11576Q,Missense_R11768Q,Missense_R18073Q,Missense_R11701Q exm246924 2 179454956 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_R20499Q,Missense_R18858Q,Missense_R11434Q,Missense_R11626Q,Missense_R17931Q,Missense_R11559Q exm246927 2 179455043 [A/G] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_I20470T,Missense_I18829T,Missense_I11405T,Missense_I11597T,Missense_I17902T,Missense_I11530T exm246931 2 179455130 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_N20441S,Missense_N18800S,Missense_N11376S,Missense_N11568S,Missense_N17873S,Missense_N11501S exm246936 2 179455352 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_R20367Q,Missense_R18726Q,Missense_R11302Q,Missense_R11494Q,Missense_R17799Q,Missense_R11427Q exm246937 2 179455356 [T/A] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_C20366S,Missense_C18725S,Missense_C11301S,Missense_C11493S,Missense_C17798S,Missense_C11426S exm246944 2 179455524 [A/G] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_R20310C,Missense_R18669C,Missense_R11245C,Missense_R11437C,Missense_R17742C,Missense_R11370C exm246948 2 179455631 [A/G] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_P20274L,Missense_P18633L,Missense_P11209L,Missense_P11401L,Missense_P17706L,Missense_P11334L exm246950 2 179455731 [C/G] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_E20241Q,Missense_E18600Q,Missense_E11176Q,Missense_E11368Q,Missense_E17673Q,Missense_E11301Q exm246960 2 179455962 [C/G] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_V20164L,Missense_V18523L,Missense_V11099L,Missense_V11291L,Missense_V17596L,Missense_V11224L exm246969 2 179456220 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_V20078M,Missense_V18437M,Missense_V11013M,Missense_V11205M,Missense_V17510M,Missense_V11138M exm246973 2 179456400 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_R20049H,Missense_R18408H,Missense_R10984H,Missense_R11176H,Missense_R17481H,Missense_R11109H exm246977 2 179456491 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_E20019K,Missense_E18378K,Missense_E10954K,Missense_E11146K,Missense_E17451K,Missense_E11079K exm246980 2 179456541 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_D20002G,Missense_D18361G,Missense_D10937G,Missense_D11129G,Missense_D17434G,Missense_D11062G exm2236688 2 179456804 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_E19943K,Missense_E18302K,Missense_E10878K,Missense_E11070K,Missense_E17375K,Missense_E11003K exm246997 2 179457147 [A/G] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_P19862L,Missense_P18221L,Missense_P10797L,Missense_P10989L,Missense_P17294L,Missense_P10922L exm247004 2 179457528 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_E19773G,Missense_E18132G,Missense_E10708G,Missense_E10900G,Missense_E17205G,Missense_E10833G exm247006 2 179457531 [A/G] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_P19772L,Missense_P18131L,Missense_P10707L,Missense_P10899L,Missense_P17204L,Missense_P10832L exm247007 2 179457598 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_G19750S,Missense_G18109S,Missense_G10685S,Missense_G10877S,Missense_G17182S,Missense_G10810S exm247011 2 179457681 [A/G] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_V19722A,Missense_V18081A,Missense_V10657A,Missense_V10849A,Missense_V17154A,Missense_V10782A exm247012 2 179457733 [A/G] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_R19705C,Missense_R18064C,Missense_R10640C,Missense_R10832C,Missense_R17137C,Missense_R10765C exm247017 2 179457964 [T/G] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_E19657D,Missense_E18016D,Missense_E10592D,Missense_E10784D,Missense_E17089D,Missense_E10717D exm247023 2 179457996 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_G19647R,Missense_G18006R,Missense_G10582R,Missense_G10774R,Missense_G17079R,Missense_G10707R exm247029 2 179458094 [A/G] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_I19614T,Missense_I17973T,Missense_I10549T,Missense_I10741T,Missense_I17046T,Missense_I10674T exm247031 2 179458146 [A/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_L19597V,Missense_L17956V,Missense_L10532V,Missense_L10724V,Missense_L17029V,Missense_L10657V exm247038 2 179458391 [G/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_E19546Q,Missense_E17905Q,Missense_E10481Q,Missense_E10673Q,Missense_E16978Q,Missense_E10606Q exm247045 2 179458591 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_R19479H,Missense_R17838H,Missense_R10414H,Missense_R10606H,Missense_R16911H,Missense_R10539H exm247051 2 179458757 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_G19455S,Missense_G17814S,Missense_G10390S,Missense_G10582S,Missense_G16887S,Missense_G10515S exm247057 2 179458894 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_R19409H,Missense_R17768H,Missense_R10344H,Missense_R10536H,Missense_R16841H,Missense_R10469H exm247073 2 179460273 [G/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_V19270L,Missense_V17629L,Missense_V10205L,Missense_V10397L,Missense_V16702L,Missense_V10330L exm247077 2 179460311 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_R19257Q,Missense_R17616Q,Missense_R10192Q,Missense_R10384Q,Missense_R16689Q,Missense_R10317Q exm247080 2 179460398 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_R19228H,Missense_R17587H,Missense_R10163H,Missense_R10355H,Missense_R16660H,Missense_R10288H exm247081 2 179460425 [T/A] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_Y19219F,Missense_Y17578F,Missense_Y10154F,Missense_Y10346F,Missense_Y16651F,Missense_Y10279F exm247086 2 179460488 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_N19198S,Missense_N17557S,Missense_N10133S,Missense_N10325S,Missense_N16630S,Missense_N10258S exm247087 2 179460495 [C/G] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_L19196V,Missense_L17555V,Missense_L10131V,Missense_L10323V,Missense_L16628V,Missense_L10256V exm247089 2 179462331 [C/G] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_V19160L,Missense_V17519L,Missense_V10095L,Missense_V10287L,Missense_V16592L,Missense_V10220L exm247093 2 179462367 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_M19148V,Missense_M17507V,Missense_M10083V,Missense_M10275V,Missense_M16580V,Missense_M10208V exm247103 2 179462655 [A/G] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_I19081T,Missense_I17440T,Missense_I10016T,Missense_I10208T,Missense_I16513T,Missense_I10141T exm247105 2 179462685 [A/G] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_I19071T,Missense_I17430T,Missense_I10006T,Missense_I10198T,Missense_I16503T,Missense_I10131T exm2236690 2 179462752 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_V19049I,Missense_V17408I,Missense_V9984I,Missense_V10176I,Missense_V16481I,Missense_V10109I exm2236691 2 179463271 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_V19025I,Missense_V17384I,Missense_V9960I,Missense_V10152I,Missense_V16457I,Missense_V10085I exm247126 2 179463880 [T/G] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_N18880K,Missense_N17239K,Missense_N9815K,Missense_N10007K,Missense_N16312K,Missense_N9940K exm247136 2 179464064 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_N18819S,Missense_N17178S,Missense_N9754S,Missense_N9946S,Missense_N16251S,Missense_N9879S exm247144 2 179464373 [A/G] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_P18752L,Missense_P17111L,Missense_P9687L,Missense_P9879L,Missense_P16184L,Missense_P9812L exm247146 2 179464457 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_K18724R,Missense_K17083R,Missense_K9659R,Missense_K9851R,Missense_K16156R,Missense_K9784R exm247162 2 179465706 [T/A] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_L18642Q,Missense_L17001Q,Missense_L9577Q,Missense_L9769Q,Missense_L16074Q,Missense_L9702Q exm247167 2 179465886 [A/G] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_P18582L,Missense_P16941L,Missense_P9517L,Missense_P9709L,Missense_P16014L,Missense_P9642L exm247169 2 179466063 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_R18554Q,Missense_R16913Q,Missense_R9489Q,Missense_R9681Q,Missense_R15986Q,Missense_R9614Q exm247172 2 179466171 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_K18518R,Missense_K16877R,Missense_K9453R,Missense_K9645R,Missense_K15950R,Missense_K9578R exm247173 2 179466177 [A/G] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_I18516T,Missense_I16875T,Missense_I9451T,Missense_I9643T,Missense_I15948T,Missense_I9576T exm247180 2 179466400 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_R18473G,Missense_R16832G,Missense_R9408G,Missense_R9600G,Missense_R15905G,Missense_R9533G exm247183 2 179466443 [C/G] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_S18458R,Missense_S16817R,Missense_S9393R,Missense_S9585R,Missense_S15890R,Missense_S9518R exm247186 2 179466511 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_E18436K,Missense_E16795K,Missense_E9371K,Missense_E9563K,Missense_E15868K,Missense_E9496K exm247189 2 179466785 [A/G] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_R18405C,Missense_R16764C,Missense_R9340C,Missense_R9532C,Missense_R15837C,Missense_R9465C exm247192 2 179467050 [A/G] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_P18360L,Missense_P16719L,Missense_P9295L,Missense_P9487L,Missense_P15792L,Missense_P9420L exm247198 2 179467311 [A/G] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_P18273L,Missense_P16632L,Missense_P9208L,Missense_P9400L,Missense_P15705L,Missense_P9333L exm247200 2 179468618 [A/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_A18266S,Missense_A16625S,Missense_A9201S,Missense_A9393S,Missense_A15698S,Missense_A9326S exm247203 2 179468674 [A/G] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_M18247T,Missense_M16606T,Missense_M9182T,Missense_M9374T,Missense_M15679T,Missense_M9307T exm247208 2 179468729 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_V18229M,Missense_V16588M,Missense_V9164M,Missense_V9356M,Missense_V15661M,Missense_V9289M exm247211 2 179468765 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_S18217G,Missense_S16576G,Missense_S9152G,Missense_S9344G,Missense_S15649G,Missense_S9277G exm247217 2 179468833 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_G18194D,Missense_G16553D,Missense_G9129D,Missense_G9321D,Missense_G15626D,Missense_G9254D exm247228 2 179469715 [A/G] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Synonymous_Y18063Y,Synonymous_Y16422Y,Synonymous_Y8998Y,Synonymous_Y9190Y,Synonymous_Y15495Y,Synonymous_Y9123Y exm247230 2 179469744 [C/G] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_V18054L,Missense_V16413L,Missense_V8989L,Missense_V9181L,Missense_V15486L,Missense_V9114L exm247233 2 179469795 [A/G] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_R18037W,Missense_R16396W,Missense_R8972W,Missense_R9164W,Missense_R15469W,Missense_R9097W exm247242 2 179470001 [T/C] NR_031666,NR_038272,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Missense_R17968H,Missense_R16327H,Missense_R8903H,Missense_R9095H,Missense_R15400H,Missense_R9028H exm247244 2 179470237 [T/C] NR_031666,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Missense_E17929K,Missense_E16288K,Missense_E8864K,Missense_E9056K,Missense_E15361K,Missense_E8989K exm247245 2 179470339 [C/G] NR_031666,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Missense_Q17895E,Missense_Q16254E,Missense_Q8830E,Missense_Q9022E,Missense_Q15327E,Missense_Q8955E exm247254 2 179472189 [A/G] NR_031666,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Synonymous_Y17742Y,Synonymous_Y16101Y,Synonymous_Y8677Y,Synonymous_Y8869Y,Synonymous_Y15174Y,Synonymous_Y8802Y exm247256 2 179472223 [A/G] NR_031666,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Missense_I17731T,Missense_I16090T,Missense_I8666T,Missense_I8858T,Missense_I15163T,Missense_I8791T exm247258 2 179472256 [A/G] NR_031666,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Missense_I17720T,Missense_I16079T,Missense_I8655T,Missense_I8847T,Missense_I15152T,Missense_I8780T exm247262 2 179472292 [A/T] NR_031666,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Missense_K17708I,Missense_K16067I,Missense_K8643I,Missense_K8835I,Missense_K15140I,Missense_K8768I exm247263 2 179472293 [T/C] NR_031666,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Missense_K17708E,Missense_K16067E,Missense_K8643E,Missense_K8835E,Missense_K15140E,Missense_K8768E exm247264 2 179472319 [T/C] NR_031666,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Missense_R17699H,Missense_R16058H,Missense_R8634H,Missense_R8826H,Missense_R15131H,Missense_R8759H exm247267 2 179472353 [T/C] NR_031666,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Missense_K17688E,Missense_K16047E,Missense_K8623E,Missense_K8815E,Missense_K15120E,Missense_K8748E exm247268 2 179472360 [T/C] NR_031666,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Missense_M17685I,Missense_M16044I,Missense_M8620I,Missense_M8812I,Missense_M15117I,Missense_M8745I exm247277 2 179472662 [A/G] NR_031666,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Missense_R17618C,Missense_R15977C,Missense_R8553C,Missense_R8745C,Missense_R15050C,Missense_R8678C exm247288 2 179473074 [G/C] NR_031666,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Missense_N17512K,Missense_N15871K,Missense_N8447K,Missense_N8639K,Missense_N14944K,Missense_N8572K exm247301 2 179473988 [T/C] NR_031666,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Missense_K17350R,Missense_K15709R,Missense_K8285R,Missense_K8477R,Missense_K14782R,Missense_K8410R exm247315 2 179474228 [A/C] NR_031666,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Missense_S17270I,Missense_S15629I,Missense_S8205I,Missense_S8397I,Missense_S14702I,Missense_S8330I exm247317 2 179474255 [T/C] NR_031666,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Missense_R17261Q,Missense_R15620Q,Missense_R8196Q,Missense_R8388Q,Missense_R14693Q,Missense_R8321Q exm247330 2 179474668 [A/G] NR_031666,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Missense_A17161V,Missense_A15520V,Missense_A8096V,Missense_A8288V,Missense_A14593V,Missense_A8221V exm247349 2 179476242 [T/C] NR_031666,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Missense_R16905H,Missense_R15264H,Missense_R7840H,Missense_R8032H,Missense_R14337H,Missense_R7965H exm247356 2 179476646 [T/C] NR_031666,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Missense_R16797H,Missense_R15156H,Missense_R7732H,Missense_R7924H,Missense_R14229H,Missense_R7857H exm247370 2 179477267 [T/G] NR_031666,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Missense_N16662T,Missense_N15021T,Missense_N7597T,Missense_N7789T,Missense_N14094T,Missense_N7722T exm247384 2 179478597 [A/C] NR_031666,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Missense_W16471C,Missense_W14830C,Missense_W7406C,Missense_W7598C,Missense_W13903C,Missense_W7531C exm247387 2 179478653 [T/G] NR_031666,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Missense_P16453T,Missense_P14812T,Missense_P7388T,Missense_P7580T,Missense_P13885T,Missense_P7513T exm247392 2 179478934 [A/C] NR_031666,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Missense_V16397G,Missense_V14756G,Missense_V7332G,Missense_V7524G,Missense_V13829G,Missense_V7457G exm247393 2 179478952 [T/C] NR_031666,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Missense_R16391Q,Missense_R14750Q,Missense_R7326Q,Missense_R7518Q,Missense_R13823Q,Missense_R7451Q exm247398 2 179479226 [A/G] NR_031666,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Missense_R16339W,Missense_R14698W,Missense_R7274W,Missense_R7466W,Missense_R13771W,Missense_R7399W exm247403 2 179479288 [A/G] NR_031666,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Missense_I16318T,Missense_I14677T,Missense_I7253T,Missense_I7445T,Missense_I13750T,Missense_I7378T exm247412 2 179479607 [A/G] NR_031666,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Missense_P16243S,Missense_P14602S,Missense_P7178S,Missense_P7370S,Missense_P13675S,Missense_P7303S exm247421 2 179480210 [T/C] NR_031666,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Synonymous_T16154T,Synonymous_T14513T,Synonymous_T7089T,Synonymous_T7281T,Synonymous_T13586T,Synonymous_T7214T exm247423 2 179480377 [T/C] NR_031666,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Missense_T16151A,Missense_T14510A,Missense_T7086A,Missense_T7278A,Missense_T13583A,Missense_T7211A exm247438 2 179481618 [C/G] NR_031666,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Missense_D16000H,Missense_D14359H,Missense_D6935H,Missense_D7127H,Missense_D13432H,Missense_D7060H exm247446 2 179482075 [A/G] NR_031666,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Missense_L15913F,Missense_L14272F,Missense_L6848F,Missense_L7040F,Missense_L13345F,Missense_L6973F exm247447 2 179482089 [T/C] NR_031666,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Missense_R15908H,Missense_R14267H,Missense_R6843H,Missense_R7035H,Missense_R13340H,Missense_R6968H exm247452 2 179482533 [T/G] NR_031666,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Missense_P15849T,Missense_P14208T,Missense_P6784T,Missense_P6976T,Missense_P13281T,Missense_P6909T exm247455 2 179482565 [T/C] NR_031666,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Missense_R15838Q,Missense_R14197Q,Missense_R6773Q,Missense_R6965Q,Missense_R13270Q,Missense_R6898Q exm247462 2 179482763 [T/C] NR_031666,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Missense_R15772Q,Missense_R14131Q,Missense_R6707Q,Missense_R6899Q,Missense_R13204Q,Missense_R6832Q exm247466 2 179482807 [A/G] NR_031666,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Synonymous_D15757D,Synonymous_D14116D,Synonymous_D6692D,Synonymous_D6884D,Synonymous_D13189D,Synonymous_D6817D exm247467 2 179482937 [T/C] NR_031666,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Missense_V15750I,Missense_V14109I,Missense_V6685I,Missense_V6877I,Missense_V13182I,Missense_V6810I exm247473 2 179482994 [A/G] NR_031666,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Missense_R15731C,Missense_R14090C,Missense_R6666C,Missense_R6858C,Missense_R13163C,Missense_R6791C exm247476 2 179483108 [T/C] NR_031666,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Missense_V15693I,Missense_V14052I,Missense_V6628I,Missense_V6820I,Missense_V13125I,Missense_V6753I exm247483 2 179483397 [A/G] NR_031666,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Missense_A15627V,Missense_A13986V,Missense_A6562V,Missense_A6754V,Missense_A13059V,Missense_A6687V exm247487 2 179484351 [A/C] NR_031666,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Missense_A15565S,Missense_A13924S,Missense_A6500S,Missense_A6692S,Missense_A12997S,Missense_A6625S exm247492 2 179484757 [T/C] NR_031666,NR_038271,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN-AS1,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Missense_G15463R,Missense_G13822R,Missense_G6398R,Missense_G6590R,Missense_G12895R,Missense_G6523R exm247528 2 179485946 [T/C] NR_031666,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Missense_V15167I,Missense_V13526I,Missense_V6102I,Missense_V6294I,Missense_V12599I,Missense_V6227I exm247532 2 179486037 [A/C] NR_031666,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Missense_K15136N,Missense_K13495N,Missense_K6071N,Missense_K6263N,Missense_K12568N,Missense_K6196N exm247533 2 179486223 [T/C] NR_031666,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Missense_D15110N,Missense_D13469N,Missense_D6045N,Missense_D6237N,Missense_D12542N,Missense_D6170N exm247538 2 179486345 [A/T] NR_031666,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Missense_E15069V,Missense_E13428V,Missense_E6004V,Missense_E6196V,Missense_E12501V,Missense_E6129V exm247542 2 179486376 [T/C] NR_031666,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Missense_A15059T,Missense_A13418T,Missense_A5994T,Missense_A6186T,Missense_A12491T,Missense_A6119T exm247545 2 179486431 [A/C] NR_031666,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Missense_I15040M,Missense_I13399M,Missense_I5975M,Missense_I6167M,Missense_I12472M,Missense_I6100M exm247580 2 179494968 [A/G] NR_031666,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Missense_P14761S,Missense_P13120S,Missense_P5696S,Missense_P5888S,Missense_P12193S,Missense_P5821S exm247584 2 179495608 [A/G] NR_031666,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Missense_R14693C,Missense_R13052C,Missense_R5628C,Missense_R5820C,Missense_R12125C,Missense_R5753C exm247586 2 179495789 [A/C] NR_031666,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Missense_D14662E,Missense_D13021E,Missense_D5597E,Missense_D5789E,Missense_D12094E,Missense_D5722E exm247592 2 179496921 [G/C] NR_031666,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Missense_R14567T,Missense_R12926T,Missense_R5502T,Missense_R5694T,Missense_R11999T,Missense_R5627T exm247597 2 179497018 [A/G] NR_031666,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Missense_R14535C,Missense_R12894C,Missense_R5470C,Missense_R5662C,Missense_R11967C,Missense_R5595C exm247606 2 179497418 [A/G] NR_031666,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Missense_R14439C,Missense_R12798C,Missense_R5374C,Missense_R5566C,Missense_R11871C,Missense_R5499C exm247616 2 179498042 [T/C] NR_031666,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Missense_K14320E,Missense_K12679E,Missense_K5255E,Missense_K5447E,Missense_K11752E,Missense_K5380E exm247620 2 179498239 [A/G] NR_031666,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Missense_R14283C,Missense_R12642C,Missense_R5218C,Missense_R5410C,Missense_R11715C,Missense_R5343C exm247634 2 179499179 [A/G] NR_031666,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Missense_V14110A,Missense_V12469A,Missense_V5045A,Missense_V5237A,Missense_V11542A,Missense_V5170A exm247637 2 179499242 [T/G] NR_031666,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Missense_P14089H,Missense_P12448H,Missense_P5024H,Missense_P5216H,Missense_P11521H,Missense_P5149H exm247643 2 179499530 [T/C] NR_031666,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Missense_H14024R,Missense_H12383R,Missense_H4959R,Missense_H5151R,Missense_H11456R,Missense_H5084R exm247646 2 179499936 [A/G] NR_031666,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Missense_P13994S,Missense_P12353S,Missense_P4929S,Missense_P5121S,Missense_P11426S,Missense_P5054S exm247650 2 179500239 [T/C] NR_031666,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Missense_M13938V,Missense_M12297V,Missense_M4873V,Missense_M5065V,Missense_M11370V,Missense_M4998V exm247653 2 179500421 [A/C] NR_031666,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Missense_V13877G,Missense_V12236G,Missense_V4812G,Missense_V5004G,Missense_V11309G,Missense_V4937G exm247656 2 179500777 [T/C] NR_031666,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Missense_D13841N,Missense_D12200N,Missense_D4776N,Missense_D4968N,Missense_D11273N,Missense_D4901N exm247677 2 179501481 [T/C] NR_031666,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Missense_K13658R,Missense_K12017R,Missense_K4593R,Missense_K4785R,Missense_K11090R,Missense_K4718R exm247681 2 179502120 [T/C] NR_031666,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Missense_A13635T,Missense_A11994T,Missense_A4570T,Missense_A4762T,Missense_A11067T,Missense_A4695T exm247686 2 179504795 [A/G] NR_031666,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Missense_P13589L,Missense_P11948L,Missense_P4524L,Missense_P4716L,Missense_P11021L,Missense_P4649L exm247699 2 179507024 [A/C] NR_031666,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Missense_V13500F,Missense_V11859F,Missense_V4435F,Missense_V4627F,Missense_V10932F,Missense_V4560F exm247712 2 179515483 [C/G] NR_031666,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Missense_P13235R,Missense_P11728R,Silent,Silent,Missense_P10801R,Silent exm247713 2 179515498 [A/G] NR_031666,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Missense_A13230V,Missense_A11723V,Silent,Silent,Missense_A10796V,Silent exm247717 2 179515979 [A/G] NR_031666,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Missense_P13206S,Missense_P11699S,Silent,Silent,Missense_P10772S,Silent exm247722 2 179516261 [T/G] NR_031666,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Missense_P13156T,Missense_P11649T,Silent,Silent,Missense_P10722T,Silent exm247728 2 179516689 [T/C] NR_031666,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Missense_E13101K,Missense_E11594K,Silent,Silent,Missense_E10667K,Silent exm247747 2 179517230 [T/C] NR_031666,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Missense_V13028M,Missense_V11521M,Silent,Silent,Missense_V10594M,Silent exm2236699 2 179517267 [G/C] NR_031666,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Synonymous_V13015V,Synonymous_V11508V,Silent,Silent,Synonymous_V10581V,Silent exm247817 2 179534960 [A/C] NR_031666,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Missense_V11791F,Missense_V11417F,Silent,Silent,Missense_V10490F,Silent exm247824 2 179535861 [T/G] NR_031666,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Missense_K11755T,Missense_K11381T,Silent,Silent,Missense_K10454T,Silent exm247835 2 179536943 [A/G] NR_031666,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Missense_V11661A,Missense_V11287A,Silent,Silent,Missense_V10360A,Silent exm247836 2 179536955 [T/C] NR_031666,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Missense_R11657H,Missense_R11283H,Silent,Silent,Missense_R10356H,Silent exm247840 2 179537200 [T/C] NR_031666,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Missense_V11622I,Missense_V11248I,Silent,Silent,Missense_V10321I,Silent exm247845 2 179538368 [A/G] NR_031666,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Missense_P11593L,Missense_P11219L,Silent,Silent,Missense_P10292L,Silent exm247846 2 179538377 [T/C] NR_031666,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Missense_E11590G,Missense_E11216G,Silent,Silent,Missense_E10289G,Silent exm247858 2 179539807 [T/C] NR_031666,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Missense_R11524Q,Missense_R11150Q,Silent,Silent,Missense_R10223Q,Silent exm247859 2 179539812 [T/G] NR_031666,NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 MIR548N,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Missense_E11522D,Missense_E11148D,Silent,Silent,Missense_E10221D,Silent exm247882 2 179543504 [A/G] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_P11266S,Missense_P10949S,Silent,Silent,Missense_P10022S,Silent exm247896 2 179544983 [G/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_R11139T,Missense_R10822T,Silent,Silent,Missense_R9895T,Silent exm247899 2 179545032 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_A11123T,Missense_A10806T,Silent,Silent,Missense_A9879T,Silent exm247903 2 179545859 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_R11096H,Missense_R10779H,Silent,Silent,Missense_R9852H,Silent exm247907 2 179547455 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Synonymous_E11021E,Synonymous_E10704E,Silent,Silent,Synonymous_E9777E,Silent exm247909 2 179547465 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_R11018Q,Missense_R10701Q,Silent,Silent,Missense_R9774Q,Silent exm1991638 2 179547547 [C/G] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_E10991Q,Missense_E10674Q,Silent,Silent,Missense_E9747Q,Silent exm247922 2 179548782 [A/G] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_P10917L,Missense_P10600L,Silent,Silent,Missense_P9673L,Silent exm247923 2 179548789 [G/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_A10915P,Missense_A10598P,Silent,Silent,Missense_A9671P,Silent exm247925 2 179548801 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_E10911K,Missense_E10594K,Silent,Silent,Missense_E9667K,Silent exm247931 2 179549126 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_M10885V,Missense_M10568V,Silent,Silent,Missense_M9641V,Silent exm247933 2 179549131 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_R10883K,Missense_R10566K,Silent,Silent,Missense_R9639K,Silent exm247934 2 179549407 [A/G] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_P10875L,Missense_P10558L,Silent,Silent,Missense_P9631L,Silent exm247936 2 179549438 [C/G] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_V10865L,Missense_V10548L,Silent,Silent,Missense_V9621L,Silent exm247939 2 179549474 [A/G] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_P10853S,Missense_P10536S,Silent,Silent,Missense_P9609S,Silent exm247943 2 179549707 [A/G] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_A10827V,Missense_A10510V,Silent,Silent,Missense_A9583V,Silent exm247946 2 179549988 [A/G] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_P10821L,Missense_P10504L,Silent,Silent,Missense_P9577L,Silent exm247947 2 179550042 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_E10803G,Missense_E10486G,Silent,Silent,Missense_E9559G,Silent exm247950 2 179550287 [C/G] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_L10784V,Missense_L10467V,Silent,Silent,Missense_L9540V,Silent exm247952 2 179552895 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_V10752I,Missense_V10435I,Silent,Silent,Missense_V9508I,Silent exm247957 2 179553415 [A/G] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_T10729M,Missense_T10412M,Silent,Silent,Missense_T9485M,Silent exm247963 2 179553849 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_K10676E,Missense_K10359E,Silent,Silent,Missense_K9432E,Silent exm247970 2 179554305 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_G10622R,Missense_G10305R,Silent,Silent,Missense_G9378R,Silent exm247975 2 179554579 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_V10603I,Missense_V10286I,Silent,Silent,Missense_V9359I,Silent exm247977 2 179554624 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN Silent,Silent,Silent,Silent,Silent,Silent exm247979 2 179556748 [T/G] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_P10586Q,Missense_P10269Q,Silent,Silent,Missense_P9342Q,Silent exm247987 2 179558366 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_I10522V,Missense_I10205V,Silent,Silent,Missense_I9278V,Silent exm247994 2 179559353 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_V10467I,Missense_V10150I,Silent,Silent,Missense_V9223I,Silent exm248002 2 179560685 [G/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_E10372Q,Missense_E10055Q,Silent,Silent,Missense_E9128Q,Silent exm248008 2 179560847 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_E10318K,Missense_E10001K,Silent,Silent,Missense_E9074K,Silent exm248014 2 179563606 [A/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_V10240F,Missense_V9923F,Silent,Silent,Missense_V8996F,Silent exm248026 2 179566921 [A/G] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_T10162M,Missense_T9845M,Silent,Silent,Missense_T8918M,Silent exm248035 2 179567331 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_A10095T,Missense_A9778T,Silent,Silent,Missense_A8851T,Silent exm248036 2 179567340 [A/G] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_H10092Y,Missense_H9775Y,Silent,Silent,Missense_H8848Y,Silent exm248044 2 179569255 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_A9982T,Missense_A9665T,Silent,Silent,Missense_A8738T,Silent exm248046 2 179569261 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_A9980T,Missense_A9663T,Silent,Silent,Missense_A8736T,Silent exm248051 2 179569387 [T/A] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_T9938S,Missense_T9621S,Silent,Silent,Missense_T8694S,Silent exm248077 2 179571448 [A/G] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_I9718T,Missense_I9401T,Silent,Silent,Missense_I8474T,Silent exm248078 2 179571595 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_V9710I,Missense_V9393I,Silent,Silent,Missense_V8466I,Silent exm248084 2 179572324 [A/G] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_S9657L,Missense_S9340L,Silent,Silent,Missense_S8413L,Silent exm248091 2 179572540 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_E9585G,Missense_E9268G,Silent,Silent,Missense_E8341G,Silent exm248096 2 179574313 [A/G] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_T9578M,Missense_T9261M,Silent,Silent,Missense_T8334M,Silent exm248110 2 179575511 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_R9438Q,Missense_R9121Q,Silent,Silent,Missense_R8194Q,Silent exm248119 2 179575893 [A/G] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_T9357I,Missense_T9040I,Silent,Silent,Missense_T8113I,Silent exm248127 2 179576035 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_V9310I,Missense_V8993I,Silent,Silent,Missense_V8066I,Silent exm248138 2 179576890 [A/G] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_S9223P,Missense_S8906P,Silent,Silent,Missense_S7979P,Silent exm248144 2 179577164 [A/G] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_T9162M,Missense_T8845M,Silent,Silent,Missense_T7918M,Silent exm248160 2 179577968 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_E8965K,Missense_E8648K,Silent,Silent,Missense_E7721K,Silent exm248162 2 179577998 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_I8955V,Missense_I8638V,Silent,Silent,Missense_I7711V,Silent exm248164 2 179578012 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_Y8950C,Missense_Y8633C,Silent,Silent,Missense_Y7706C,Silent exm248165 2 179578043 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_G8940S,Missense_G8623S,Silent,Silent,Missense_G7696S,Silent exm248169 2 179578704 [A/G] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_P8894L,Missense_P8577L,Silent,Silent,Missense_P7650L,Silent exm248170 2 179578713 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_N8891S,Missense_N8574S,Silent,Silent,Missense_N7647S,Silent exm248174 2 179578857 [A/G] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_T8843M,Missense_T8526M,Silent,Silent,Missense_T7599M,Silent exm248175 2 179578891 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_I8832V,Missense_I8515V,Silent,Silent,Missense_I7588V,Silent exm1991704 2 179579025 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_V8826I,Missense_V8509I,Silent,Silent,Missense_V7582I,Silent exm248179 2 179579093 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_N8803S,Missense_N8486S,Silent,Silent,Missense_N7559S,Silent exm248189 2 179579256 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_V8749I,Missense_V8432I,Silent,Silent,Missense_V7505I,Silent exm248198 2 179579935 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_V8660I,Missense_V8343I,Silent,Silent,Missense_V7416I,Silent exm248200 2 179579976 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_R8646H,Missense_R8329H,Silent,Silent,Missense_R7402H,Silent exm248201 2 179579977 [A/G] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_R8646C,Missense_R8329C,Silent,Silent,Missense_R7402C,Silent exm248203 2 179580264 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_N8626S,Missense_N8309S,Silent,Silent,Missense_N7382S,Silent exm248206 2 179580311 [C/G] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_H8610Q,Missense_H8293Q,Silent,Silent,Missense_H7366Q,Silent exm248213 2 179580481 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_K8554E,Missense_K8237E,Silent,Silent,Missense_K7310E,Silent exm248215 2 179581835 [A/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_Q8542H,Missense_Q8225H,Silent,Silent,Missense_Q7298H,Silent exm248216 2 179581842 [A/G] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_S8540F,Missense_S8223F,Silent,Silent,Missense_S7296F,Silent exm248219 2 179581897 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_D8522N,Missense_D8205N,Silent,Silent,Missense_D7278N,Silent exm248222 2 179581971 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_R8497H,Missense_R8180H,Silent,Silent,Missense_R7253H,Silent exm248224 2 179581980 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_R8494Q,Missense_R8177Q,Silent,Silent,Missense_R7250Q,Silent exm248234 2 179582378 [A/G] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_T8408I,Missense_T8091I,Silent,Silent,Missense_T7164I,Silent exm248240 2 179582456 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_R8382H,Missense_R8065H,Silent,Silent,Missense_R7138H,Silent exm248243 2 179582514 [A/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_A8363S,Missense_A8046S,Silent,Silent,Missense_A7119S,Silent exm248244 2 179582535 [A/G] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_R8356C,Missense_R8039C,Silent,Silent,Missense_R7112C,Silent exm248245 2 179582537 [T/G] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_A8355E,Missense_A8038E,Silent,Silent,Missense_A7111E,Silent exm248248 2 179582760 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_K8325E,Missense_K8008E,Silent,Silent,Missense_K7081E,Silent exm248250 2 179582769 [A/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_V8322L,Missense_V8005L,Silent,Silent,Missense_V7078L,Silent exm248251 2 179582781 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_V8318I,Missense_V8001I,Silent,Silent,Missense_V7074I,Silent exm248256 2 179582853 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_R8294G,Missense_R7977G,Silent,Silent,Missense_R7050G,Silent exm248260 2 179582913 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_E8274K,Missense_E7957K,Silent,Silent,Missense_E7030K,Silent exm248264 2 179583181 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_S8218G,Missense_S7901G,Silent,Silent,Missense_S6974G,Silent exm248267 2 179583249 [A/G] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_T8195I,Missense_T7878I,Silent,Silent,Missense_T6951I,Silent exm248269 2 179583286 [G/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_E8183Q,Missense_E7866Q,Silent,Silent,Missense_E6939Q,Silent exm248277 2 179583496 [T/G] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_E8144A,Missense_E7827A,Silent,Silent,Missense_E6900A,Silent exm248279 2 179583922 [A/G] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Synonymous_S8065S,Synonymous_S7748S,Silent,Silent,Synonymous_S6821S,Silent exm248282 2 179583957 [A/T] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_I8054L,Missense_I7737L,Silent,Silent,Missense_I6810L,Silent exm248294 2 179584152 [A/G] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_R7989C,Missense_R7672C,Silent,Silent,Missense_R6745C,Silent exm248296 2 179584293 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_V7976I,Missense_V7659I,Silent,Silent,Missense_V6732I,Silent exm248304 2 179584544 [A/G] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_I7892T,Missense_I7575T,Silent,Silent,Missense_I6648T,Silent exm248312 2 179584914 [C/G] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_E7819Q,Missense_E7502Q,Silent,Silent,Missense_E6575Q,Silent exm248317 2 179585187 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_D7768N,Missense_D7451N,Silent,Silent,Missense_D6524N,Silent exm248319 2 179585257 [G/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_N7744K,Missense_N7427K,Silent,Silent,Missense_N6500K,Silent exm248323 2 179585312 [A/G] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_S7726L,Missense_S7409L,Silent,Silent,Missense_S6482L,Silent exm248335 2 179586604 [G/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_D7596H,Missense_D7279H,Silent,Silent,Missense_D6352H,Silent exm248340 2 179586756 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_R7545Q,Missense_R7228Q,Silent,Silent,Missense_R6301Q,Silent exm248348 2 179587075 [T/G] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_Q7480P,Missense_Q7163P,Silent,Silent,Missense_Q6236P,Silent exm248353 2 179587130 [C/G] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_D7462H,Missense_D7145H,Silent,Silent,Missense_D6218H,Silent exm248361 2 179587535 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_R7364Q,Missense_R7047Q,Silent,Silent,Missense_R6120Q,Silent exm248372 2 179587955 [T/G] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_S7260Y,Missense_S6943Y,Silent,Silent,Missense_S6016Y,Silent exm248375 2 179588159 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_R7223H,Missense_R6906H,Silent,Silent,Missense_R5979H,Silent exm248376 2 179588171 [A/G] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_S7219F,Missense_S6902F,Silent,Silent,Missense_S5975F,Silent exm248380 2 179588279 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_C7183Y,Missense_C6866Y,Silent,Silent,Missense_C5939Y,Silent exm248381 2 179588282 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_R7182Q,Missense_R6865Q,Silent,Silent,Missense_R5938Q,Silent exm248387 2 179588622 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_A7122T,Missense_A6805T,Silent,Silent,Missense_A5878T,Silent exm248392 2 179588813 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_G7058D,Missense_G6741D,Silent,Silent,Missense_G5814D,Silent exm248394 2 179588996 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_D7036N,Missense_D6719N,Silent,Silent,Missense_D5792N,Silent exm248397 2 179589083 [A/T] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_I7007F,Missense_I6690F,Silent,Silent,Missense_I5763F,Silent exm248398 2 179589100 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_K7001R,Missense_K6684R,Silent,Silent,Missense_K5757R,Silent exm248406 2 179589241 [A/G] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_A6954V,Missense_A6637V,Silent,Silent,Missense_A5710V,Silent exm248408 2 179590133 [C/G] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_G6933A,Missense_G6616A,Silent,Silent,Missense_G5689A,Silent exm248409 2 179590139 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_N6931S,Missense_N6614S,Silent,Silent,Missense_N5687S,Silent exm248411 2 179590188 [A/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_A6915S,Missense_A6598S,Silent,Silent,Missense_A5671S,Silent exm248414 2 179590301 [A/G] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_I6877T,Missense_I6560T,Silent,Silent,Missense_I5633T,Silent exm248416 2 179590329 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_G6868R,Missense_G6551R,Silent,Silent,Missense_G5624R,Silent exm248424 2 179590708 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_E6781K,Missense_E6464K,Silent,Silent,Missense_E5537K,Silent exm248425 2 179590714 [A/T] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_S6779C,Missense_S6462C,Silent,Silent,Missense_S5535C,Silent exm248428 2 179591856 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_A6746T,Missense_A6429T,Silent,Silent,Missense_A5502T,Silent exm248430 2 179591917 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_I6725M,Missense_I6408M,Silent,Silent,Missense_I5481M,Silent exm248431 2 179591945 [T/A] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_M6716K,Missense_M6399K,Silent,Silent,Missense_M5472K,Silent exm248435 2 179592035 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_R6686Q,Missense_R6369Q,Silent,Silent,Missense_R5442Q,Silent exm248438 2 179592329 [A/G] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_T6659M,Missense_T6342M,Silent,Silent,Missense_T5415M,Silent exm248447 2 179592567 [A/G] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_P6580S,Missense_P6263S,Silent,Silent,Missense_P5336S,Silent exm248452 2 179593004 [T/A] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_K6516M,Missense_K6199M,Silent,Silent,Missense_K5272M,Silent exm248463 2 179593352 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_S6434N,Missense_S6117N,Silent,Silent,Missense_S5190N,Silent exm248466 2 179593449 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_M6402V,Missense_M6085V,Silent,Silent,Missense_M5158V,Silent exm248468 2 179593463 [A/G] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_T6397M,Missense_T6080M,Silent,Silent,Missense_T5153M,Silent exm248470 2 179593503 [T/G] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_P6384T,Missense_P6067T,Silent,Silent,Missense_P5140T,Silent exm248474 2 179593702 [A/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_D6355Y,Missense_D6038Y,Silent,Silent,Missense_D5111Y,Silent exm248477 2 179593749 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_Y6339C,Missense_Y6022C,Silent,Silent,Missense_Y5095C,Silent exm248478 2 179593761 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_D6335G,Missense_D6018G,Silent,Silent,Missense_D5091G,Silent exm248480 2 179593804 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_I6321V,Missense_I6004V,Silent,Silent,Missense_I5077V,Silent exm248481 2 179593827 [C/G] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_S6313T,Missense_S5996T,Silent,Silent,Missense_S5069T,Silent exm248487 2 179594027 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_V6286I,Missense_V5969I,Silent,Silent,Missense_V5042I,Silent exm248488 2 179594059 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_N6275S,Missense_N5958S,Silent,Silent,Missense_N5031S,Silent exm248490 2 179594107 [G/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_T6259S,Missense_T5942S,Silent,Silent,Missense_T5015S,Silent exm248492 2 179594138 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_D6249N,Missense_D5932N,Silent,Silent,Missense_D5005N,Silent exm248497 2 179594224 [C/G] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_C6220S,Missense_C5903S,Silent,Silent,Missense_C4976S,Silent exm248502 2 179594423 [A/G] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_T6186M,Missense_T5869M,Silent,Silent,Missense_T4942M,Silent exm248503 2 179594430 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_A6184T,Missense_A5867T,Silent,Silent,Missense_A4940T,Silent exm248504 2 179594438 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_R6181Q,Missense_R5864Q,Silent,Silent,Missense_R4937Q,Silent exm1991772 2 179594573 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_R6136Q,Missense_R5819Q,Silent,Silent,Missense_R4892Q,Silent exm248512 2 179594655 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_K6109E,Missense_K5792E,Silent,Silent,Missense_K4865E,Silent exm248519 2 179594955 [A/G] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_R6058C,Missense_R5741C,Silent,Silent,Missense_R4814C,Silent exm248521 2 179595271 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_A5997T,Missense_A5680T,Silent,Silent,Missense_A4753T,Silent exm248523 2 179595372 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_E5963G,Missense_E5646G,Silent,Silent,Missense_E4719G,Silent exm248524 2 179595389 [T/A] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_Q5957H,Missense_Q5640H,Silent,Silent,Missense_Q4713H,Silent exm248530 2 179595454 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_I5936V,Missense_I5619V,Silent,Silent,Missense_I4692V,Silent exm248547 2 179596154 [A/G] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_F5780S,Missense_F5463S,Silent,Silent,Missense_F4536S,Silent exm248549 2 179596181 [G/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_T5771S,Missense_T5454S,Silent,Silent,Missense_T4527S,Silent exm248550 2 179596193 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_S5767N,Missense_S5450N,Silent,Silent,Missense_S4523N,Silent exm248553 2 179596269 [A/G] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_L5742F,Missense_L5425F,Silent,Silent,Missense_L4498F,Silent exm248558 2 179596473 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_R5710Q,Missense_R5393Q,Silent,Silent,Missense_R4466Q,Silent exm248563 2 179596554 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_Y5683C,Missense_Y5366C,Silent,Silent,Missense_Y4439C,Silent exm248577 2 179597242 [A/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_D5516Y,Missense_D5199Y,Silent,Silent,Missense_D4272Y,Silent exm248578 2 179597259 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_Y5510C,Missense_Y5193C,Silent,Silent,Missense_Y4266C,Silent exm248579 2 179597271 [A/G] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_S5506F,Missense_S5189F,Silent,Silent,Missense_S4262F,Silent exm248585 2 179597590 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_K5438R,Missense_K5121R,Silent,Silent,Missense_K4194R,Silent exm248586 2 179597600 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_V5435M,Missense_V5118M,Silent,Silent,Missense_V4191M,Silent exm248599 2 179597812 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_R5364H,Missense_R5047H,Silent,Silent,Missense_R4120H,Silent exm248602 2 179598034 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_G5329D,Missense_G5012D,Silent,Silent,Missense_G4085D,Silent exm248610 2 179598160 [A/G] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_T5287M,Missense_T4970M,Silent,Silent,Missense_T4043M,Silent exm248611 2 179598170 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_V5284M,Missense_V4967M,Silent,Silent,Missense_V4040M,Silent exm248621 2 179598532 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_E5195G,Missense_E4878G,Silent,Silent,Missense_E3951G,Silent exm248622 2 179598553 [T/G] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_Q5188P,Missense_Q4871P,Silent,Silent,Missense_Q3944P,Silent exm248631 2 179599473 [C/G] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_V5060L,Missense_V4743L,Silent,Silent,Missense_V3816L,Silent exm248633 2 179599565 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_R5029Q,Missense_R4712Q,Silent,Silent,Missense_R3785Q,Silent exm248637 2 179599667 [C/G] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_P4995R,Missense_P4678R,Silent,Silent,Missense_P3751R,Silent exm2236713 2 179600262 [A/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_C4971G,Missense_C4654G,Silent,Silent,Missense_C3727G,Silent exm248640 2 179600303 [G/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_T4957S,Missense_T4640S,Silent,Silent,Missense_T3713S,Silent exm248644 2 179600383 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Synonymous_P4930P,Synonymous_P4613P,Silent,Silent,Synonymous_P3686P,Silent exm248647 2 179600408 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_S4922N,Missense_S4605N,Silent,Silent,Missense_S3678N,Silent exm248650 2 179600475 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_A4900T,Missense_A4583T,Silent,Silent,Missense_A3656T,Silent exm248659 2 179600648 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_R4842K,Missense_R4525K,Silent,Silent,Missense_R3598K,Silent exm248660 2 179600655 [T/G] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_N4840H,Missense_N4523H,Silent,Silent,Missense_N3596H,Silent exm248661 2 179600709 [A/G] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_P4822S,Missense_P4505S,Silent,Silent,Missense_P3578S,Silent exm248672 2 179602875 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_E4769K,Missense_E4452K,Missense_E4406K,Missense_E4598K,Missense_E3525K,Missense_E4531K exm248674 2 179602948 [T/G] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_D4744E,Missense_D4427E,Missense_D4381E,Missense_D4573E,Missense_D3500E,Missense_D4506E exm248686 2 179603984 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_Y4659C,Missense_Y4342C,Missense_Y4296C,Missense_Y4488C,Silent,Missense_Y4421C exm248687 2 179603991 [T/G] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_N4657H,Missense_N4340H,Missense_N4294H,Missense_N4486H,Silent,Missense_N4419H exm248691 2 179604101 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_G4620D,Missense_G4303D,Missense_G4257D,Missense_G4449D,Silent,Missense_G4382D exm248693 2 179604160 [T/G] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_L4600F,Missense_L4283F,Missense_L4237F,Missense_L4429F,Silent,Missense_L4362F exm248696 2 179604254 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_S4569N,Missense_S4252N,Missense_S4206N,Missense_S4398N,Silent,Missense_S4331N exm248700 2 179604342 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_V4540M,Missense_V4223M,Missense_V4177M,Missense_V4369M,Silent,Missense_V4302M exm248701 2 179604366 [T/G] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_T4532P,Missense_T4215P,Missense_T4169P,Missense_T4361P,Silent,Missense_T4294P exm248713 2 179604758 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_R4401Q,Missense_R4084Q,Missense_R4038Q,Missense_R4230Q,Silent,Missense_R4163Q exm248715 2 179604815 [A/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_S4382I,Missense_S4065I,Missense_S4019I,Missense_S4211I,Silent,Missense_S4144I exm248721 2 179604974 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_R4329K,Missense_R4012K,Missense_R3966K,Missense_R4158K,Silent,Missense_R4091K exm248722 2 179605116 [T/G] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_I4282L,Missense_I3965L,Missense_I3919L,Missense_I4111L,Silent,Missense_I4044L exm248728 2 179605212 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_V4250M,Missense_V3933M,Missense_V3887M,Missense_V4079M,Silent,Missense_V4012M exm248729 2 179605227 [T/G] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_N4245H,Missense_N3928H,Missense_N3882H,Missense_N4074H,Silent,Missense_N4007H exm248731 2 179605380 [A/T] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_I4194F,Missense_I3877F,Missense_I3831F,Missense_I4023F,Silent,Missense_I3956F exm248733 2 179605413 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_K4183E,Missense_K3866E,Missense_K3820E,Missense_K4012E,Silent,Missense_K3945E exm248736 2 179605559 [T/A] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_I4134N,Missense_I3817N,Missense_I3771N,Missense_I3963N,Silent,Missense_I3896N exm248742 2 179605725 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_I4079V,Missense_I3762V,Missense_I3716V,Missense_I3908V,Silent,Missense_I3841V exm248744 2 179605727 [A/G] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_T4078I,Missense_T3761I,Missense_T3715I,Missense_T3907I,Silent,Missense_T3840I exm248752 2 179605964 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_N3999S,Missense_N3682S,Missense_N3636S,Missense_N3828S,Silent,Missense_N3761S exm248753 2 179605991 [A/G] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_P3990L,Missense_P3673L,Missense_P3627L,Missense_P3819L,Silent,Missense_P3752L exm248758 2 179606172 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_E3930K,Missense_E3613K,Missense_E3567K,Missense_E3759K,Silent,Missense_E3692K exm248761 2 179606288 [A/G] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_T3891I,Missense_T3574I,Missense_T3528I,Missense_T3720I,Silent,Missense_T3653I exm248765 2 179606375 [C/G] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_P3862R,Missense_P3545R,Missense_P3499R,Missense_P3691R,Silent,Missense_P3624R exm248772 2 179606538 [A/G] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432 TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_P3808S,Missense_P3491S,Missense_P3445S,Missense_P3637S,Silent,Missense_P3570S exm248783 2 179610514 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432,NM_133379 TTN,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_R5538H exm248785 2 179610611 [A/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432,NM_133379 TTN,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Silent,Silent,Silent,Nonsense_E5506X exm248790 2 179610733 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432,NM_133379 TTN,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_R5465Q exm248791 2 179610799 [A/G] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432,NM_133379 TTN,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_V5443A exm248793 2 179610845 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432,NM_133379 TTN,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_V5428M exm248797 2 179610967 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432,NM_133379 TTN,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_C5387Y exm248822 2 179611552 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432,NM_133379 TTN,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_R5192K exm248826 2 179611639 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432,NM_133379 TTN,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_R5163H exm248828 2 179611711 [A/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432,NM_133379 TTN,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_R5139M exm248835 2 179611778 [A/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432,NM_133379 TTN,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_Y5117D exm248838 2 179611825 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432,NM_133379 TTN,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_E5101G exm248848 2 179611934 [A/G] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432,NM_133379 TTN,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_P5065S exm248852 2 179612005 [G/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432,NM_133379 TTN,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_T5041R exm2236720 2 179612092 [T/A] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432,NM_133379 TTN,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_I5012K exm248859 2 179612315 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432,NM_133379 TTN,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_M4938V exm248861 2 179612321 [T/A] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432,NM_133379 TTN,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_T4936S exm248866 2 179612383 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432,NM_133379 TTN,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_R4915H exm248873 2 179612635 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432,NM_133379 TTN,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_C4831Y exm248874 2 179612638 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432,NM_133379 TTN,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_Q4830R exm248879 2 179612800 [A/G] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432,NM_133379 TTN,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_L4776S exm248884 2 179612887 [A/T] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432,NM_133379 TTN,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_D4747V exm248890 2 179613049 [A/G] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432,NM_133379 TTN,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_I4693T exm248895 2 179613147 [C/G] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432,NM_133379 TTN,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_H4660Q exm248896 2 179613176 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432,NM_133379 TTN,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_S4651G exm248897 2 179613179 [A/G] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432,NM_133379 TTN,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_P4650S exm248898 2 179613191 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432,NM_133379 TTN,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_K4646E exm248899 2 179613239 [C/G] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432,NM_133379 TTN,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_L4630V exm248900 2 179613244 [A/G] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432,NM_133379 TTN,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_P4628L exm248902 2 179613264 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432,NM_133379 TTN,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_M4621I exm248903 2 179613268 [T/G] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432,NM_133379 TTN,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_Q4620P exm248905 2 179613335 [A/G] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432,NM_133379 TTN,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_P4598S exm248909 2 179613494 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432,NM_133379 TTN,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_A4545T exm248914 2 179613538 [A/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432,NM_133379 TTN,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_I4530R exm248915 2 179613541 [C/G] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432,NM_133379 TTN,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_A4529G exm248918 2 179613649 [T/G] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432,NM_133379 TTN,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_K4493T exm248925 2 179613715 [C/G] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432,NM_133379 TTN,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_G4471A exm248927 2 179613763 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432,NM_133379 TTN,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_K4455R exm248930 2 179613780 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432,NM_133379 TTN,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_I4449M exm248933 2 179613874 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432,NM_133379 TTN,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_Y4418C exm248937 2 179613962 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432,NM_133379 TTN,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_V4389I exm248940 2 179614004 [A/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432,NM_133379 TTN,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_A4375S exm248943 2 179614045 [C/G] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432,NM_133379 TTN,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_G4361A exm248945 2 179614082 [T/G] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432,NM_133379 TTN,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_P4349T exm248948 2 179614148 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432,NM_133379 TTN,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_I4327V exm2236723 2 179614403 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432,NM_133379 TTN,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_S4242G exm248955 2 179614411 [A/G] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432,NM_133379 TTN,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_A4239V exm248960 2 179614603 [T/G] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432,NM_133379 TTN,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_S4175Y exm248979 2 179615060 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432,NM_133379 TTN,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_G4023R exm248980 2 179615120 [A/G] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432,NM_133379 TTN,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_L4003F exm248983 2 179615158 [A/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432,NM_133379 TTN,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_F3990C exm248988 2 179615278 [A/G] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432,NM_133379 TTN,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_I3950T exm248995 2 179615386 [G/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432,NM_133379 TTN,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_T3914R exm248997 2 179615478 [A/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432,NM_133379 TTN,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_F3883L exm249006 2 179615837 [A/G] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432,NM_133379 TTN,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_H3764Y exm249008 2 179615844 [G/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432,NM_133379 TTN,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_K3761N exm249009 2 179615873 [T/A] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432,NM_133379 TTN,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_S3752T exm249011 2 179615887 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432,NM_133379 TTN,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_D3747G exm249014 2 179615931 [G/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432,NM_133379 TTN,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_L3732F exm249025 2 179616121 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432,NM_133379 TTN,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_D3669G exm249031 2 179616215 [T/A] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432,NM_133379 TTN,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_T3638S exm249041 2 179616479 [A/G] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432,NM_133379 TTN,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_R3550W exm249043 2 179616482 [A/G] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432,NM_133379 TTN,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_R3549C exm249045 2 179616502 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432,NM_133379 TTN,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_R3542Q exm2254819 2 179616510 [A/G] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432,NM_133379 TTN,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Silent,Silent,Silent,Synonymous_H3539H exm249054 2 179616716 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432,NM_133379 TTN,TTN,TTN,TTN,TTN,TTN,TTN EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_A3471T exm249059 2 179620947 [A/G] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432,NM_133379 TTN,TTN,TTN,TTN,TTN,TTN,TTN Silent,Silent,Silent,Silent,Silent,Silent,Silent exm249060 2 179620951 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432,NM_133379 TTN,TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_G3751D,Silent,Silent,Missense_G3580D,Silent,Silent,Silent exm249072 2 179621272 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432,NM_133379 TTN,TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_S3644N,Silent,Silent,Missense_S3473N,Silent,Silent,Silent exm249074 2 179621349 [T/G] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432,NM_133379 TTN,TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_Q3618H,Silent,Silent,Missense_Q3447H,Silent,Silent,Silent exm249075 2 179621353 [A/G] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432,NM_133379 TTN,TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_S3617F,Silent,Silent,Missense_S3446F,Silent,Silent,Silent exm249080 2 179621477 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432,NM_133379 TTN,TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_A3576T,Silent,Silent,Missense_A3405T,Silent,Silent,Silent exm249081 2 179621503 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432,NM_133379 TTN,TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_S3567N,Silent,Silent,Missense_S3396N,Silent,Silent,Silent exm249094 2 179622412 [A/G] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432,NM_133379 TTN,TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_V3512A,Silent,Silent,Silent,Silent,Missense_V3466A,Silent exm249097 2 179622569 [G/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432,NM_133379 TTN,TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_P3460A,Silent,Silent,Silent,Silent,Missense_P3414A,Silent exm249099 2 179623758 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432,NM_133379 TTN,TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_S3419N,Missense_S3419N,Missense_S3373N,Missense_S3373N,Missense_S3419N,Missense_S3373N,Missense_S3419N exm2236731 2 179623770 [A/G] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432,NM_133379 TTN,TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_T3415M,Missense_T3415M,Missense_T3369M,Missense_T3369M,Missense_T3415M,Missense_T3369M,Missense_T3415M exm249111 2 179628918 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432,NM_133379 TTN,TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_R3367Q,Missense_R3367Q,Missense_R3321Q,Missense_R3321Q,Missense_R3367Q,Missense_R3321Q,Missense_R3367Q exm249112 2 179628930 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432,NM_133379 TTN,TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_R3363H,Missense_R3363H,Missense_R3317H,Missense_R3317H,Missense_R3363H,Missense_R3317H,Missense_R3363H exm249123 2 179629391 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432,NM_133379 TTN,TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_K3284R,Missense_K3284R,Missense_K3238R,Missense_K3238R,Missense_K3284R,Missense_K3238R,Missense_K3284R exm249124 2 179629422 [T/G] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432,NM_133379 TTN,TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_K3274Q,Missense_K3274Q,Missense_K3228Q,Missense_K3228Q,Missense_K3274Q,Missense_K3228Q,Missense_K3274Q exm249127 2 179629461 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432,NM_133379 TTN,TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_V3261M,Missense_V3261M,Missense_V3215M,Missense_V3215M,Missense_V3261M,Missense_V3215M,Missense_V3261M exm-rs2291312 2 179631214 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432,NM_133379 TTN,TTN,TTN,TTN,TTN,TTN,TTN EXON Synonymous_E3199E,Synonymous_E3199E,Synonymous_E3153E,Synonymous_E3153E,Synonymous_E3199E,Synonymous_E3153E,Synonymous_E3199E exm249145 2 179631323 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432,NM_133379 TTN,TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_R3163H,Missense_R3163H,Missense_R3117H,Missense_R3117H,Missense_R3163H,Missense_R3117H,Missense_R3163H exm249146 2 179631324 [A/G] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432,NM_133379 TTN,TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_R3163C,Missense_R3163C,Missense_R3117C,Missense_R3117C,Missense_R3163C,Missense_R3117C,Missense_R3163C exm249149 2 179632496 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432,NM_133379 TTN,TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_K3154R,Missense_K3154R,Missense_K3108R,Missense_K3108R,Missense_K3154R,Missense_K3108R,Missense_K3154R exm249156 2 179632598 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432,NM_133379 TTN,TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_R3120Q,Missense_R3120Q,Missense_R3074Q,Missense_R3074Q,Missense_R3120Q,Missense_R3074Q,Missense_R3120Q exm249171 2 179633421 [T/G] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432,NM_133379 TTN,TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_T3048P,Missense_T3048P,Missense_T3002P,Missense_T3002P,Missense_T3048P,Missense_T3002P,Missense_T3048P exm249174 2 179633486 [T/A] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432,NM_133379 TTN,TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_N3026I,Missense_N3026I,Missense_N2980I,Missense_N2980I,Missense_N3026I,Missense_N2980I,Missense_N3026I exm249179 2 179633625 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432,NM_133379 TTN,TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_A2980T,Missense_A2980T,Missense_A2934T,Missense_A2934T,Missense_A2980T,Missense_A2934T,Missense_A2980T exm249186 2 179634421 [T/G] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432,NM_133379 TTN,TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_T2963P,Missense_T2963P,Missense_T2917P,Missense_T2917P,Missense_T2963P,Missense_T2917P,Missense_T2963P exm249197 2 179634919 [T/A] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432,NM_133379 TTN,TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_S2837C,Missense_S2837C,Missense_S2791C,Missense_S2791C,Missense_S2837C,Missense_S2791C,Missense_S2837C exm249199 2 179634936 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432,NM_133379 TTN,TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_S2831N,Missense_S2831N,Missense_S2785N,Missense_S2785N,Missense_S2831N,Missense_S2785N,Missense_S2831N exm249200 2 179634961 [A/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432,NM_133379 TTN,TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_V2823F,Missense_V2823F,Missense_V2777F,Missense_V2777F,Missense_V2823F,Missense_V2777F,Missense_V2823F exm249201 2 179634994 [C/G] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432,NM_133379 TTN,TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_V2812L,Missense_V2812L,Missense_V2766L,Missense_V2766L,Missense_V2812L,Missense_V2766L,Missense_V2812L exm249204 2 179635205 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432,NM_133379 TTN,TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_V2772M,Missense_V2772M,Missense_V2726M,Missense_V2726M,Missense_V2772M,Missense_V2726M,Missense_V2772M exm249217 2 179636093 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432,NM_133379 TTN,TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_R2654K,Missense_R2654K,Missense_R2608K,Missense_R2608K,Missense_R2654K,Missense_R2608K,Missense_R2654K exm249222 2 179637861 [G/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432,NM_133379 TTN,TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_M2610I,Missense_M2610I,Missense_M2564I,Missense_M2564I,Missense_M2610I,Missense_M2564I,Missense_M2610I exm249226 2 179637951 [A/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432,NM_133379 TTN,TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_I2580M,Missense_I2580M,Missense_I2534M,Missense_I2534M,Missense_I2580M,Missense_I2534M,Missense_I2580M exm249233 2 179638260 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432,NM_133379 TTN,TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_H2508R,Missense_H2508R,Missense_H2462R,Missense_H2462R,Missense_H2508R,Missense_H2462R,Missense_H2508R exm249237 2 179638579 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432,NM_133379 TTN,TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_R2439H,Missense_R2439H,Missense_R2393H,Missense_R2393H,Missense_R2439H,Missense_R2393H,Missense_R2439H exm249240 2 179638721 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432,NM_133379 TTN,TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_G2392S,Missense_G2392S,Missense_G2346S,Missense_G2346S,Missense_G2392S,Missense_G2346S,Missense_G2392S exm249245 2 179638834 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432,NM_133379 TTN,TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_R2354H,Missense_R2354H,Missense_R2308H,Missense_R2308H,Missense_R2354H,Missense_R2308H,Missense_R2354H exm249249 2 179639064 [T/A] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432,NM_133379 TTN,TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_N2309K,Missense_N2309K,Missense_N2263K,Missense_N2263K,Missense_N2309K,Missense_N2263K,Missense_N2309K exm249252 2 179639125 [A/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432,NM_133379 TTN,TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_I2289S,Missense_I2289S,Missense_I2243S,Missense_I2243S,Missense_I2289S,Missense_I2243S,Missense_I2289S exm249259 2 179639711 [A/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432,NM_133379 TTN,TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_D2243Y,Missense_D2243Y,Missense_D2197Y,Missense_D2197Y,Missense_D2243Y,Missense_D2197Y,Missense_D2243Y exm249261 2 179639725 [A/G] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432,NM_133379 TTN,TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_T2238M,Missense_T2238M,Missense_T2192M,Missense_T2192M,Missense_T2238M,Missense_T2192M,Missense_T2238M exm249263 2 179639854 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432,NM_133379 TTN,TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_E2195G,Missense_E2195G,Missense_E2149G,Missense_E2149G,Missense_E2195G,Missense_E2149G,Missense_E2195G exm249270 2 179640232 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432,NM_133379 TTN,TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_R2120Q,Missense_R2120Q,Missense_R2074Q,Missense_R2074Q,Missense_R2120Q,Missense_R2074Q,Missense_R2120Q exm249271 2 179640238 [A/G] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432,NM_133379 TTN,TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_I2118T,Missense_I2118T,Missense_I2072T,Missense_I2072T,Missense_I2118T,Missense_I2072T,Missense_I2118T exm249280 2 179640550 [A/G] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432,NM_133379 TTN,TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_T2014I,Missense_T2014I,Missense_T1968I,Missense_T1968I,Missense_T2014I,Missense_T1968I,Missense_T2014I exm249283 2 179640598 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432,NM_133379 TTN,TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_R1998H,Missense_R1998H,Missense_R1952H,Missense_R1952H,Missense_R1998H,Missense_R1952H,Missense_R1998H exm249289 2 179640923 [A/G] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432,NM_133379 TTN,TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_R1890C,Missense_R1890C,Missense_R1844C,Missense_R1844C,Missense_R1890C,Missense_R1844C,Missense_R1890C exm249293 2 179641009 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432,NM_133379 TTN,TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_R1861H,Missense_R1861H,Missense_R1815H,Missense_R1815H,Missense_R1861H,Missense_R1815H,Missense_R1861H exm249296 2 179641112 [A/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432,NM_133379 TTN,TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_A1827S,Missense_A1827S,Missense_A1781S,Missense_A1781S,Missense_A1827S,Missense_A1781S,Missense_A1827S exm249297 2 179641127 [T/G] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432,NM_133379 TTN,TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_M1822L,Missense_M1822L,Missense_M1776L,Missense_M1776L,Missense_M1822L,Missense_M1776L,Missense_M1822L exm249300 2 179641277 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432,NM_133379 TTN,TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_S1772G,Missense_S1772G,Missense_S1726G,Missense_S1726G,Missense_S1772G,Missense_S1726G,Missense_S1772G exm249302 2 179641360 [A/G] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432,NM_133379 TTN,TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_P1744L,Missense_P1744L,Missense_P1698L,Missense_P1698L,Missense_P1744L,Missense_P1698L,Missense_P1744L exm249315 2 179641951 [A/G] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432,NM_133379 TTN,TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_T1580M,Missense_T1580M,Missense_T1534M,Missense_T1534M,Missense_T1580M,Missense_T1534M,Missense_T1580M exm249317 2 179641975 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432,NM_133379 TTN,TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_R1572Q,Missense_R1572Q,Missense_R1526Q,Missense_R1526Q,Missense_R1572Q,Missense_R1526Q,Missense_R1572Q exm249322 2 179642019 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432,NM_133379 TTN,TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_M1557I,Missense_M1557I,Missense_M1511I,Missense_M1511I,Missense_M1557I,Missense_M1511I,Missense_M1557I exm249324 2 179642162 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432,NM_133379 TTN,TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_I1544V,Missense_I1544V,Missense_I1498V,Missense_I1498V,Missense_I1544V,Missense_I1498V,Missense_I1544V exm249332 2 179642515 [A/G] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432,NM_133379 TTN,TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_F1466L,Missense_F1466L,Missense_F1420L,Missense_F1420L,Missense_F1466L,Missense_F1420L,Missense_F1466L exm249334 2 179642583 [A/G] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432,NM_133379 TTN,TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_L1443P,Missense_L1443P,Missense_L1397P,Missense_L1397P,Missense_L1443P,Missense_L1397P,Missense_L1443P exm249335 2 179642589 [C/G] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432,NM_133379 TTN,TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_R1441P,Missense_R1441P,Missense_R1395P,Missense_R1395P,Missense_R1441P,Missense_R1395P,Missense_R1441P exm249342 2 179642620 [A/G] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432,NM_133379 TTN,TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_R1431W,Missense_R1431W,Missense_R1385W,Missense_R1385W,Missense_R1431W,Missense_R1385W,Missense_R1431W exm249346 2 179642665 [A/G] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432,NM_133379 TTN,TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_R1416C,Missense_R1416C,Missense_R1370C,Missense_R1370C,Missense_R1416C,Missense_R1370C,Missense_R1416C exm249352 2 179643632 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432,NM_133379 TTN,TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_I1393V,Missense_I1393V,Missense_I1347V,Missense_I1347V,Missense_I1393V,Missense_I1347V,Missense_I1393V exm249353 2 179643640 [A/G] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432,NM_133379 TTN,TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_P1390L,Missense_P1390L,Missense_P1344L,Missense_P1344L,Missense_P1390L,Missense_P1344L,Missense_P1390L exm249355 2 179643649 [A/G] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432,NM_133379 TTN,TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_L1387P,Missense_L1387P,Missense_L1341P,Missense_L1341P,Missense_L1387P,Missense_L1341P,Missense_L1387P exm249356 2 179643656 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432,NM_133379 TTN,TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_A1385T,Missense_A1385T,Missense_A1339T,Missense_A1339T,Missense_A1385T,Missense_A1339T,Missense_A1385T exm249361 2 179643775 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432,NM_133379 TTN,TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_G1345D,Missense_G1345D,Missense_G1299D,Missense_G1299D,Missense_G1345D,Missense_G1299D,Missense_G1345D exm249367 2 179644035 [A/G] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432,NM_133379 TTN,TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_S1295L,Missense_S1295L,Missense_S1249L,Missense_S1249L,Missense_S1295L,Missense_S1249L,Missense_S1295L exm249373 2 179644788 [A/G] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432,NM_133379 TTN,TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_A1223V,Missense_A1223V,Missense_A1177V,Missense_A1177V,Missense_A1223V,Missense_A1177V,Missense_A1223V exm249377 2 179644851 [A/G] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432,NM_133379 TTN,TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_V1202A,Missense_V1202A,Missense_V1156A,Missense_V1156A,Missense_V1202A,Missense_V1156A,Missense_V1202A exm249378 2 179644855 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432,NM_133379 TTN,TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_K1201E,Missense_K1201E,Missense_K1155E,Missense_K1155E,Missense_K1201E,Missense_K1155E,Missense_K1201E exm249386 2 179645962 [C/G] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432,NM_133379 TTN,TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_G1137R,Missense_G1137R,Missense_G1091R,Missense_G1091R,Missense_G1137R,Missense_G1091R,Missense_G1137R exm249390 2 179647078 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432,NM_133379 TTN,TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_A1081T,Missense_A1081T,Missense_A1035T,Missense_A1035T,Missense_A1081T,Missense_A1035T,Missense_A1081T exm249394 2 179647297 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432,NM_133379 TTN,TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_V1045M,Missense_V1045M,Missense_V999M,Missense_V999M,Missense_V1045M,Missense_V999M,Missense_V1045M exm249396 2 179647533 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432,NM_133379 TTN,TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_V1034M,Missense_V1034M,Missense_V988M,Missense_V988M,Missense_V1034M,Missense_V988M,Missense_V1034M exm1991914 2 179647631 [A/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432,NM_133379 TTN,TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_M1001R,Missense_M1001R,Missense_M955R,Missense_M955R,Missense_M1001R,Missense_M955R,Missense_M1001R exm249421 2 179648808 [A/G] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432,NM_133379 TTN,TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_R922C,Missense_R922C,Missense_R876C,Missense_R876C,Missense_R922C,Missense_R876C,Missense_R922C exm249426 2 179648841 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432,NM_133379 TTN,TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_V911I,Missense_V911I,Missense_V865I,Missense_V865I,Missense_V911I,Missense_V865I,Missense_V911I exm249432 2 179648973 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432,NM_133379 TTN,TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_S867G,Missense_S867G,Missense_S821G,Missense_S821G,Missense_S867G,Missense_S821G,Missense_S867G exm249434 2 179648991 [G/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432,NM_133379 TTN,TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_A861P,Missense_A861P,Missense_A815P,Missense_A815P,Missense_A861P,Missense_A815P,Missense_A861P exm249443 2 179650585 [A/G] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432,NM_133379 TTN,TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_I787T,Missense_I787T,Missense_I741T,Missense_I741T,Missense_I787T,Missense_I741T,Missense_I787T exm249447 2 179650675 [A/G] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432,NM_133379 TTN,TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_P757L,Missense_P757L,Missense_P711L,Missense_P711L,Missense_P757L,Missense_P711L,Missense_P757L exm249467 2 179655493 [A/G] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432,NM_133379 TTN,TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_P581L,Missense_P581L,Silent,Silent,Missense_P581L,Silent,Missense_P581L exm249470 2 179656876 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432,NM_133379 TTN,TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_A529T,Missense_A529T,Missense_A529T,Missense_A529T,Missense_A529T,Missense_A529T,Missense_A529T exm249481 2 179658175 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432,NM_133379 TTN,TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_V498I,Missense_V498I,Missense_V498I,Missense_V498I,Missense_V498I,Missense_V498I,Missense_V498I exm249491 2 179659127 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432,NM_133379 TTN,TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_Q466R,Missense_Q466R,Missense_Q466R,Missense_Q466R,Missense_Q466R,Missense_Q466R,Missense_Q466R exm249494 2 179659191 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432,NM_133379 TTN,TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_A445T,Missense_A445T,Missense_A445T,Missense_A445T,Missense_A445T,Missense_A445T,Missense_A445T exm249495 2 179659227 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432,NM_133379 TTN,TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_V433I,Missense_V433I,Missense_V433I,Missense_V433I,Missense_V433I,Missense_V433I,Missense_V433I exm249502 2 179659708 [A/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432,NM_133379 TTN,TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_A396S,Missense_A396S,Missense_A396S,Missense_A396S,Missense_A396S,Missense_A396S,Missense_A396S exm1991933 2 179659753 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432,NM_133379 TTN,TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_G381S,Missense_G381S,Missense_G381S,Missense_G381S,Missense_G381S,Missense_G381S,Missense_G381S exm249510 2 179659815 [G/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432,NM_133379 TTN,TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_R360T,Missense_R360T,Missense_R360T,Missense_R360T,Missense_R360T,Missense_R360T,Missense_R360T exm249515 2 179659891 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432,NM_133379 TTN,TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_V335M,Missense_V335M,Missense_V335M,Missense_V335M,Missense_V335M,Missense_V335M,Missense_V335M exm249518 2 179659912 [A/G] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432,NM_133379 TTN,TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_R328C,Missense_R328C,Missense_R328C,Missense_R328C,Missense_R328C,Missense_R328C,Missense_R328C exm249519 2 179659924 [A/G] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432,NM_133379 TTN,TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_P324S,Missense_P324S,Missense_P324S,Missense_P324S,Missense_P324S,Missense_P324S,Missense_P324S exm249528 2 179664293 [A/G] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432,NM_133379 TTN,TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_R279W,Missense_R279W,Missense_R279W,Missense_R279W,Missense_R279W,Missense_R279W,Missense_R279W exm249541 2 179665163 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432,NM_133379 TTN,TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_S181N,Missense_S181N,Missense_S181N,Missense_S181N,Missense_S181N,Missense_S181N,Missense_S181N exm249548 2 179665380 [A/G] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432,NM_133379 TTN,TTN,TTN,TTN,TTN,TTN,TTN EXON Nonsense_R109X,Nonsense_R109X,Nonsense_R109X,Nonsense_R109X,Nonsense_R109X,Nonsense_R109X,Nonsense_R109X exm249552 2 179666871 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432,NM_133379 TTN,TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_V97M,Missense_V97M,Missense_V97M,Missense_V97M,Missense_V97M,Missense_V97M,Missense_V97M exm249562 2 179666982 [A/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432,NM_133379 TTN,TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_D60Y,Missense_D60Y,Missense_D60Y,Missense_D60Y,Missense_D60Y,Missense_D60Y,Missense_D60Y exm249575 2 179669327 [T/C] NM_001267550,NM_001256850,NM_003319,NM_133437,NM_133378,NM_133432,NM_133379 TTN,TTN,TTN,TTN,TTN,TTN,TTN EXON Missense_V15I,Missense_V15I,Missense_V15I,Missense_V15I,Missense_V15I,Missense_V15I,Missense_V15I exm249579 2 179698914 [T/G] NM_173648 CCDC141 EXON Missense_L1527I exm1991937 2 179699031 [T/C] NM_173648 CCDC141 EXON Missense_G1488S exm249582 2 179699124 [T/C] NM_173648 CCDC141 EXON Missense_V1457I exm249592 2 179701786 [A/G] NM_173648 CCDC141 EXON Missense_V1387A exm249601 2 179701998 [A/C] NM_173648 CCDC141 EXON Missense_S1316R exm249620 2 179702420 [A/G] NM_173648 CCDC141 EXON Nonsense_R1176X exm249621 2 179702437 [T/C] NM_173648 CCDC141 EXON Missense_N1170S exm249622 2 179702446 [T/A] NM_173648 CCDC141 EXON Nonsense_L1167X exm2269184 2 179708677 [T/G] NM_173648 CCDC141 Silent exm249635 2 179718221 [A/G] NM_173648 CCDC141 EXON Missense_P1064L exm249637 2 179718301 [A/T] NM_173648 CCDC141 EXON Missense_K1037N exm249641 2 179718336 [T/C] NM_173648 CCDC141 EXON Missense_E1026K exm249650 2 179721045 [T/C] NM_173648 CCDC141 EXON Missense_R935Q exm249651 2 179721046 [A/G] NM_173648 CCDC141 EXON Missense_R935W exm249655 2 179721072 [T/A] NM_173648 CCDC141 EXON Missense_N926I exm249661 2 179730517 [T/C] NM_173648 CCDC141 EXON Missense_A901T exm249667 2 179730592 [T/C] NM_173648 CCDC141 EXON Missense_E876K exm249668 2 179730604 [C/G] NM_173648 CCDC141 EXON Missense_L872V exm249675 2 179732845 [A/G] NM_173648 CCDC141 EXON Missense_R828W exm249681 2 179732916 [T/C] NM_173648 CCDC141 EXON Missense_K804R exm249691 2 179733939 [T/C] NM_173648 CCDC141 EXON Missense_D767N exm249693 2 179734025 [T/C] NM_173648 CCDC141 EXON Missense_N738S exm249698 2 179736240 [A/G] NM_173648 CCDC141 EXON Missense_P707S exm249699 2 179736862 [T/G] NM_173648 CCDC141 EXON Missense_K693Q exm249716 2 179751485 [T/G] NM_173648 CCDC141 EXON Missense_Q507H exm249725 2 179770175 [A/C] NM_173648 CCDC141 EXON Missense_E382D exm249728 2 179839819 [T/A] NM_173648 CCDC141 EXON Missense_K164I exm249730 2 179839888 [A/G] NM_173648 CCDC141 EXON Missense_A141V exm249736 2 179914640 [A/G] NM_173648 CCDC141 EXON Missense_A10V exm249737 2 179914649 [A/G] NM_173648 CCDC141 EXON Missense_P7L exm2269349 2 179932785 [T/C] exm249750 2 179979874 [A/G] NM_178123 SESTD1 EXON Missense_V586A exm249752 2 179979910 [T/C] NM_178123 SESTD1 EXON Missense_R574Q exm249767 2 179986599 [T/C] NM_178123 SESTD1 EXON Missense_N447S exm249786 2 179997138 [T/C] NM_178123 SESTD1 EXON Missense_E289K exm249793 2 180014052 [T/C] NM_178123 SESTD1 EXON Missense_D185N exm249804 2 180056547 [T/G] NM_178123 SESTD1 EXON Missense_P8T exm-rs6433782 2 180224834 [T/C] exm2265241 2 180303862 [A/G] exm249822 2 180308168 [T/G] NM_152520,NM_001113397,NM_001113398,NR_049778 ZNF385B,ZNF385B,ZNF385B,ZNF385B EXON Missense_M409L,Missense_M333L,Missense_M307L,Silent exm249834 2 180311444 [T/C] NM_152520,NM_001113397,NM_001113398,NR_049778 ZNF385B,ZNF385B,ZNF385B,ZNF385B EXON Missense_S242G,Missense_S166G,Missense_S140G,Silent exm249837 2 180348079 [A/G] NM_152520,NM_001113397,NM_001113398,NR_049778 ZNF385B,ZNF385B,ZNF385B,ZNF385B EXON Missense_M197T,Missense_M121T,Missense_M95T,Silent exm-rs16866933 2 180566678 [A/G] NM_152520,NM_001113397 ZNF385B,ZNF385B Silent,Silent exm249855 2 180634235 [A/C] NM_152520 ZNF385B EXON Missense_S83I exm249869 2 180634461 [A/G] NM_152520 ZNF385B EXON Missense_R8W exm1992029 2 180809970 [T/A] NM_020943 CWC22 EXON Nonsense_Y871X exm249878 2 180809986 [T/C] NM_020943 CWC22 EXON Missense_S866N exm249883 2 180810202 [T/C] NM_020943 CWC22 EXON Missense_R794Q exm249886 2 180810264 [T/A] NM_020943 CWC22 EXON Missense_S773R exm249888 2 180810313 [T/C] NM_020943 CWC22 EXON Missense_R757K exm249890 2 180810358 [T/C] NM_020943 CWC22 EXON Missense_R742K exm249897 2 180815253 [T/C] NM_020943 CWC22 EXON Missense_H709R exm249901 2 180815280 [T/C] NM_020943 CWC22 EXON Missense_E700G exm249904 2 180815329 [T/C] NM_020943 CWC22 EXON Missense_D684N exm249908 2 180815412 [A/G] NM_020943 CWC22 EXON Missense_A656V exm249909 2 180815413 [T/C] NM_020943 CWC22 EXON Missense_A656T exm249972 2 180853325 [T/C] NM_020943 CWC22 EXON Missense_R25K exm249976 2 180853342 [T/G] NM_020943 CWC22 EXON Missense_N19K exm-rs17175114 2 180854620 [A/G] NM_020943 CWC22 Silent exm2269350 2 180973176 [T/C] exm2265242 2 181001694 [A/G] exm-rs13418455 2 181076749 [T/C] exm2254828 2 181314519 [T/G] exm-rs16867321 2 181362379 [T/C] exm-rs918959 2 181513729 [A/G] exm2261123 2 181710499 [T/C] exm-rs13010713 2 181996045 [A/G] exm-rs1018326 2 182007800 [T/C] exm2265243 2 182036900 [A/G] exm-rs7602460 2 182261869 [A/G] exm-rs12988934 2 182323665 [T/C] NM_000885 ITGA4 Silent exm2269186 2 182336805 [T/G] NM_000885 ITGA4 Silent exm1992105 2 182346352 [A/G] NM_000885 ITGA4 EXON Missense_R261Q exm250045 2 182347378 [A/G] NM_000885 ITGA4 EXON Synonymous_S347S exm250047 2 182350641 [A/G] NM_000885 ITGA4 EXON Missense_V359I exm250063 2 182363436 [A/G] NM_000885 ITGA4 EXON Missense_V543M exm250071 2 182374534 [A/G] NM_000885 ITGA4 EXON Synonymous_T615T exm250095 2 182389981 [A/G] NM_000885 ITGA4 EXON Missense_I768V exm250097 2 182392038 [T/C] NM_000885 ITGA4 EXON Missense_T785I exm250102 2 182394308 [T/C] NM_000885 ITGA4 EXON Missense_V824A exm250113 2 182395345 [A/G] NM_000885 ITGA4 EXON Missense_R878Q exm250116 2 182396457 [A/C] NM_000885 ITGA4 EXON Missense_A913D exm250124 2 182399097 [T/C] NM_000885 ITGA4 EXON Synonymous_H961H exm250132 2 182399628 [T/C] NM_000885 ITGA4 EXON Missense_I990T exm250144 2 182402954 [A/G] NM_001030311,NM_001030313,NM_201548,NR_027689,NM_001030312,NM_001160277,NR_027690 CERKL,CERKL,CERKL,CERKL,CERKL,CERKL,CERKL EXON Missense_I545T,Missense_I450T,Missense_I519T,Silent,Missense_I406T,Missense_I501T,Silent exm250146 2 182403834 [A/G] NM_001030311,NM_001030313,NM_201548,NR_027689,NM_001030312,NM_001160277,NR_027690 CERKL,CERKL,CERKL,CERKL,CERKL,CERKL,CERKL EXON Missense_S534L,Missense_S439L,Missense_S508L,Silent,Missense_S395L,Missense_S490L,Silent exm250147 2 182403851 [A/G] NM_001030311,NM_001030313,NM_201548,NR_027689,NM_001030312,NM_001160277,NR_027690 CERKL,CERKL,CERKL,CERKL,CERKL,CERKL,CERKL EXON Synonymous_D528D,Synonymous_D433D,Synonymous_D502D,Silent,Synonymous_D389D,Synonymous_D484D,Silent exm250150 2 182403894 [T/C] NM_001030311,NM_001030313,NM_201548,NR_027689,NM_001030312,NM_001160277,NR_027690 CERKL,CERKL,CERKL,CERKL,CERKL,CERKL,CERKL EXON Missense_E514G,Missense_E419G,Missense_E488G,Silent,Missense_E375G,Missense_E470G,Silent exm250156 2 182409488 [T/C] NM_001030311,NM_001030313,NM_201548,NR_027689,NM_001030312,NM_001160277,NR_027690 CERKL,CERKL,CERKL,CERKL,CERKL,CERKL,CERKL EXON Missense_R461Q,Missense_R366Q,Missense_R435Q,Silent,Missense_R322Q,Missense_R417Q,Silent exm250162 2 182412376 [A/C] NM_001030311,NM_001030313,NM_201548,NR_027689,NM_001030312,NM_001160277,NR_027690 CERKL,CERKL,CERKL,CERKL,CERKL,CERKL,CERKL EXON Missense_V439L,Missense_V344L,Missense_V413L,Silent,Missense_V300L,Missense_V395L,Silent exm250199 2 182414426 [T/C] NM_001030311,NM_001030313,NM_201548,NR_027689,NM_001030312,NM_001160277,NR_027690 CERKL,CERKL,CERKL,CERKL,CERKL,CERKL,CERKL EXON Missense_N303S,Missense_N208S,Missense_N277S,Silent,Missense_N164S,Missense_N259S,Silent exm250203 2 182423344 [A/G] NM_001030311,NM_001030313,NM_201548,NR_027689,NM_001030312,NM_001160277,NR_027690 CERKL,CERKL,CERKL,CERKL,CERKL,CERKL,CERKL EXON Nonsense_R283X,Silent,Nonsense_R257X,Silent,Silent,Nonsense_R239X,Silent exm250209 2 182430219 [A/C] NM_001030311,NM_001030313,NM_201548,NR_027689,NM_001030312,NM_001160277,NR_027690 CERKL,CERKL,CERKL,CERKL,CERKL,CERKL,CERKL EXON Missense_L232F,Silent,Silent,Silent,Silent,Missense_L188F,Silent exm250217 2 182438504 [A/C] NM_001030311,NM_001030313,NM_201548,NR_027689,NM_001030312,NM_001160277,NR_027690 CERKL,CERKL,CERKL,CERKL,CERKL,CERKL,CERKL EXON Missense_A197S,Missense_A197S,Missense_A197S,Silent,Silent,Silent,Silent exm-rs993648 2 182455994 [T/C] NM_001030311,NM_001030313,NM_201548,NR_027689,NM_001030312,NM_001160277,NR_027690 CERKL,CERKL,CERKL,CERKL,CERKL,CERKL,CERKL Silent,Silent,Silent,Silent,Silent,Silent,Silent exm250233 2 182468670 [C/G] NM_001030311,NM_001030313,NM_201548,NR_027689,NM_001030312,NM_001160277,NR_027690 CERKL,CERKL,CERKL,CERKL,CERKL,CERKL,CERKL EXON Missense_C125W,Missense_C125W,Missense_C125W,Silent,Missense_C125W,Missense_C125W,Silent exm250235 2 182468683 [A/G] NM_001030311,NM_001030313,NM_201548,NR_027689,NM_001030312,NM_001160277,NR_027690 CERKL,CERKL,CERKL,CERKL,CERKL,CERKL,CERKL EXON Missense_T121I,Missense_T121I,Missense_T121I,Silent,Missense_T121I,Missense_T121I,Silent exm250237 2 182468732 [A/G] NM_001030311,NM_001030313,NM_201548,NR_027689,NM_001030312,NM_001160277,NR_027690 CERKL,CERKL,CERKL,CERKL,CERKL,CERKL,CERKL EXON Missense_R105W,Missense_R105W,Missense_R105W,Silent,Missense_R105W,Missense_R105W,Silent exm250238 2 182468747 [A/C] NM_001030311,NM_001030313,NM_201548,NR_027689,NM_001030312,NM_001160277,NR_027690 CERKL,CERKL,CERKL,CERKL,CERKL,CERKL,CERKL EXON Missense_S100A,Missense_S100A,Missense_S100A,Silent,Missense_S100A,Missense_S100A,Silent exm250240 2 182468803 [T/G] NM_001030311,NM_001030313,NM_201548,NR_027689,NM_001030312,NM_001160277,NR_027690 CERKL,CERKL,CERKL,CERKL,CERKL,CERKL,CERKL EXON Missense_D81A,Missense_D81A,Missense_D81A,Silent,Missense_D81A,Missense_D81A,Silent exm250244 2 182521535 [T/C] NM_001030311,NM_001030313,NM_201548,NR_027689,NM_001030312,NM_001160277,NR_027690 CERKL,CERKL,CERKL,CERKL,CERKL,CERKL,CERKL EXON Missense_A67T,Missense_A67T,Missense_A67T,Silent,Missense_A67T,Missense_A67T,Silent exm250245 2 182521541 [A/C] NM_001030311,NM_001030313,NM_201548,NR_027689,NM_001030312,NM_001160277,NR_027690 CERKL,CERKL,CERKL,CERKL,CERKL,CERKL,CERKL EXON Nonsense_E65X,Nonsense_E65X,Nonsense_E65X,Silent,Nonsense_E65X,Nonsense_E65X,Silent exm250247 2 182521577 [T/C] NM_001030311,NM_001030313,NM_201548,NR_027689,NM_001030312,NM_001160277,NR_027690 CERKL,CERKL,CERKL,CERKL,CERKL,CERKL,CERKL EXON Missense_E53K,Missense_E53K,Missense_E53K,Silent,Missense_E53K,Missense_E53K,Silent exm250262 2 182542557 [T/C] NM_002500 NEUROD1 EXON Missense_R344Q exm250268 2 182542671 [A/G] NM_002500 NEUROD1 EXON Missense_A306V exm250272 2 182542727 [T/G] NM_002500 NEUROD1 EXON Missense_H287Q exm250274 2 182542830 [A/G] NM_002500 NEUROD1 EXON Missense_L253P exm250276 2 182542847 [T/G] NM_002500 NEUROD1 EXON Missense_H247Q exm250285 2 182542978 [A/G] NM_002500 NEUROD1 EXON Missense_P204S exm250286 2 182542998 [T/G] NM_002500 NEUROD1 EXON Missense_P197H exm250297 2 182543455 [T/C] NM_002500 NEUROD1 EXON Missense_T45A exm250304 2 182756900 [C/G] NM_001130445,NM_006751 SSFA2,SSFA2 EXON Missense_A36G,Missense_A36G exm250305 2 182756944 [A/G] NM_001130445,NM_006751 SSFA2,SSFA2 EXON Missense_E51K,Missense_E51K exm250315 2 182760757 [T/C] NM_001130445,NM_006751 SSFA2,SSFA2 EXON Synonymous_R86R,Synonymous_R86R exm250324 2 182765446 [A/G] NM_001130445,NM_006751 SSFA2,SSFA2 EXON Missense_Y176C,Missense_Y176C exm250326 2 182765506 [T/C] NM_001130445,NM_006751 SSFA2,SSFA2 EXON Missense_I196T,Missense_I196T exm250327 2 182765567 [T/G] NM_001130445,NM_006751 SSFA2,SSFA2 EXON Missense_I216M,Missense_I216M exm1992206 2 182766531 [A/G] NM_001130445,NM_006751 SSFA2,SSFA2 EXON Missense_N251D,Missense_N251D exm250342 2 182766892 [T/C] NM_001130445,NM_006751 SSFA2,SSFA2 EXON Missense_T371M,Missense_T371M exm250345 2 182766988 [A/G] NM_001130445,NM_006751 SSFA2,SSFA2 EXON Missense_E403G,Missense_E403G exm250346 2 182767000 [A/G] NM_001130445,NM_006751 SSFA2,SSFA2 EXON Missense_G407D,Missense_G407D exm250348 2 182767128 [T/C] NM_001130445,NM_006751 SSFA2,SSFA2 EXON Missense_P450S,Missense_P450S exm250349 2 182767158 [A/G] NM_001130445,NM_006751 SSFA2,SSFA2 EXON Missense_M460V,Missense_M460V exm250351 2 182774636 [T/C] NM_001130445,NM_006751 SSFA2,SSFA2 EXON Missense_T475M,Missense_T475M exm250370 2 182780099 [A/G] NM_001130445,NM_006751 SSFA2,SSFA2 EXON Missense_G578R,Missense_G578R exm250371 2 182780126 [A/G] NM_001130445,NM_006751 SSFA2,SSFA2 EXON Missense_D587N,Missense_D587N exm250373 2 182780166 [A/G] NM_001130445,NM_006751 SSFA2,SSFA2 EXON Missense_N600S,Missense_N600S exm250377 2 182780307 [A/G] NM_001130445,NM_006751 SSFA2,SSFA2 EXON Missense_G647D,Missense_G647D exm250379 2 182780334 [A/G] NM_001130445,NM_006751 SSFA2,SSFA2 EXON Missense_Q656R,Missense_Q656R exm250385 2 182780484 [T/C] NM_001130445,NM_006751 SSFA2,SSFA2 EXON Missense_S706F,Missense_S706F exm250394 2 182780637 [A/G] NM_001130445,NM_006751 SSFA2,SSFA2 EXON Missense_R757Q,Missense_R757Q exm250397 2 182780726 [A/G] NM_001130445,NM_006751 SSFA2,SSFA2 EXON Missense_V787M,Missense_V787M exm1992217 2 182780760 [T/C] NM_001130445,NM_006751 SSFA2,SSFA2 EXON Missense_S798L,Missense_S798L exm2275621 2 182780796 [A/G] NM_001130445,NM_006751 SSFA2,SSFA2 EXON Missense_E810G,Missense_E810G exm250400 2 182780817 [T/C] NM_001130445,NM_006751 SSFA2,SSFA2 EXON Missense_A817V,Missense_A817V exm250402 2 182780822 [T/C] NM_001130445,NM_006751 SSFA2,SSFA2 EXON Missense_R819W,Missense_R819W exm250404 2 182780864 [T/C] NM_001130445,NM_006751 SSFA2,SSFA2 EXON Missense_R833W,Missense_R833W exm250405 2 182780874 [T/C] NM_001130445,NM_006751 SSFA2,SSFA2 EXON Missense_P836L,Missense_P836L exm250406 2 182780912 [A/C] NM_001130445,NM_006751 SSFA2,SSFA2 EXON Missense_I849L,Missense_I849L exm250409 2 182781033 [A/G] NM_001130445,NM_006751 SSFA2,SSFA2 EXON Missense_Y889C,Missense_Y889C exm250416 2 182783334 [A/G] NM_001130445,NM_006751 SSFA2,SSFA2 EXON Missense_M933V,Missense_M933V exm250432 2 182784130 [A/G] NM_001130445,NM_006751 SSFA2,SSFA2 EXON Missense_R1034H,Missense_R1034H exm250440 2 182786740 [A/G] NM_001130445,NM_006751 SSFA2,SSFA2 EXON Missense_M1092I,Missense_M1092I exm250441 2 182786783 [A/T] NM_001130445,NM_006751 SSFA2,SSFA2 EXON Missense_S1107T,Missense_S1107T exm250444 2 182786822 [T/C] NM_001130445,NM_006751 SSFA2,SSFA2 EXON Missense_P1120S,Missense_P1120S exm250447 2 182786902 [T/G] NM_001130445,NM_006751 SSFA2,SSFA2 EXON Missense_K1146N,Missense_K1146N exm250452 2 182786966 [A/T] NM_001130445,NM_006751 SSFA2,SSFA2 EXON Missense_T1168S,Missense_T1168S exm250460 2 182786999 [C/G] NM_001130445,NM_006751 SSFA2,SSFA2 EXON Missense_D1179H,Missense_D1179H exm1992238 2 182787051 [A/G] NM_001130445,NM_006751 SSFA2,SSFA2 EXON Missense_E1196G,Missense_E1196G exm250466 2 182787134 [T/C] NM_001130445,NM_006751 SSFA2,SSFA2 EXON Missense_R1224W,Missense_R1224W exm250468 2 182792918 [T/C] NM_001130445,NM_006751 SSFA2,SSFA2 EXON Missense_R1236W,Silent exm250470 2 182792984 [T/A] NM_001130445,NM_006751 SSFA2,SSFA2 EXON Missense_Y1258N,Silent exm2269352 2 182840114 [T/C] NR_048567 PPP1R1C Silent exm-rs6732434 2 182901257 [A/G] NR_048567,NM_001080545,NM_001261424,NR_048566,NM_001261425 PPP1R1C,PPP1R1C,PPP1R1C,PPP1R1C,PPP1R1C Silent,Silent,Silent,Silent,Silent exm1992249 2 182928520 [T/C] NR_048567,NM_001080545,NM_001261424,NR_048566,NM_001261425 PPP1R1C,PPP1R1C,PPP1R1C,PPP1R1C,PPP1R1C Silent,Silent,Silent,Silent,Silent exm250494 2 182981960 [A/G] NR_048567,NM_001080545,NM_001261424,NR_048566,NM_001261425 PPP1R1C,PPP1R1C,PPP1R1C,PPP1R1C,PPP1R1C EXON Silent,Missense_E90K,Missense_E97K,Silent,Missense_E90K exm250498 2 182981979 [A/C] NR_048567,NM_001080545,NM_001261424,NR_048566,NM_001261425 PPP1R1C,PPP1R1C,PPP1R1C,PPP1R1C,PPP1R1C EXON Silent,Missense_E96A,Missense_E103A,Silent,Missense_E96A exm2265244 2 183023484 [A/G] NM_001258312,NM_005019 PDE1A,PDE1A Silent,Silent exm2236754 2 183033002 [A/G] NM_001258312,NM_005019,NM_001003683,NM_001258314,NM_001258313 PDE1A,PDE1A,PDE1A,PDE1A,PDE1A EXON Silent,Silent,Missense_S527L,Missense_S493L,Missense_S511L exm250513 2 183050795 [A/G] NM_001258312,NM_005019,NM_001003683,NM_001258314,NM_001258313 PDE1A,PDE1A,PDE1A,PDE1A,PDE1A EXON Missense_I467T,Missense_I463T,Missense_I463T,Missense_I429T,Missense_I447T exm250537 2 183070764 [A/G] NM_001258312,NM_005019,NM_001003683,NM_001258314,NM_001258313 PDE1A,PDE1A,PDE1A,PDE1A,PDE1A EXON Missense_R289C,Missense_R285C,Missense_R285C,Missense_R251C,Missense_R269C exm250547 2 183095749 [T/C] NM_001258312,NM_005019,NM_001003683,NM_001258314,NM_001258313 PDE1A,PDE1A,PDE1A,PDE1A,PDE1A EXON Missense_R196H,Missense_R192H,Missense_R192H,Missense_R158H,Missense_R176H exm250575 2 183387027 [T/C] NM_001258312,NM_005019,NM_001003683 PDE1A,PDE1A,PDE1A EXON Missense_K30R,Missense_K26R,Missense_K26R exm-rs825662 2 183537399 [A/G] exm250584 2 183582868 [A/C] NM_001271581,NR_073367,NR_073366,NM_018981,NR_073365 DNAJC10,DNAJC10,DNAJC10,DNAJC10,DNAJC10 EXON Missense_L19I,Silent,Silent,Missense_L19I,Silent exm250588 2 183584755 [A/G] NM_001271581,NR_073367,NR_073366,NM_018981,NR_073365 DNAJC10,DNAJC10,DNAJC10,DNAJC10,DNAJC10 EXON Missense_D76N,Silent,Silent,Missense_D76N,Silent exm2254834 2 183593364 [T/C] NM_001271581,NR_073367,NR_073366,NM_018981,NR_073365 DNAJC10,DNAJC10,DNAJC10,DNAJC10,DNAJC10 EXON Synonymous_H160H,Silent,Silent,Synonymous_H160H,Silent exm250598 2 183593615 [A/G] NM_001271581,NR_073367,NR_073366,NM_018981,NR_073365 DNAJC10,DNAJC10,DNAJC10,DNAJC10,DNAJC10 EXON Missense_D176G,Silent,Silent,Missense_D176G,Silent exm250599 2 183593638 [A/G] NM_001271581,NR_073367,NR_073366,NM_018981,NR_073365 DNAJC10,DNAJC10,DNAJC10,DNAJC10,DNAJC10 EXON Missense_V184I,Silent,Silent,Missense_V184I,Silent exm250604 2 183594584 [A/G] NM_001271581,NR_073367,NR_073366,NM_018981,NR_073365 DNAJC10,DNAJC10,DNAJC10,DNAJC10,DNAJC10 EXON Missense_K215E,Silent,Silent,Missense_K215E,Silent exm250605 2 183594621 [G/C] NM_001271581,NR_073367,NR_073366,NM_018981,NR_073365 DNAJC10,DNAJC10,DNAJC10,DNAJC10,DNAJC10 EXON Missense_S227T,Silent,Silent,Missense_S227T,Silent exm1992300 2 183594666 [A/C] NM_001271581,NR_073367,NR_073366,NM_018981,NR_073365 DNAJC10,DNAJC10,DNAJC10,DNAJC10,DNAJC10 EXON Missense_T242K,Silent,Silent,Missense_T242K,Silent exm250622 2 183605077 [A/C] NM_001271581,NR_073367,NR_073366,NM_018981,NR_073365 DNAJC10,DNAJC10,DNAJC10,DNAJC10,DNAJC10 EXON Missense_L301I,Silent,Silent,Missense_L347I,Silent exm250624 2 183605982 [T/C] NM_001271581,NR_073367,NR_073366,NM_018981,NR_073365 DNAJC10,DNAJC10,DNAJC10,DNAJC10,DNAJC10 EXON Missense_H318Y,Silent,Silent,Missense_H364Y,Silent exm250630 2 183608374 [A/G] NM_001271581,NR_073367,NR_073366,NM_018981,NR_073365 DNAJC10,DNAJC10,DNAJC10,DNAJC10,DNAJC10 EXON Missense_Y368C,Silent,Silent,Missense_Y414C,Silent exm250642 2 183616815 [A/G] NM_001271581,NR_073367,NR_073366,NM_018981,NR_073365 DNAJC10,DNAJC10,DNAJC10,DNAJC10,DNAJC10 EXON Missense_R438Q,Silent,Silent,Missense_R484Q,Silent exm250645 2 183616913 [A/C] NM_001271581,NR_073367,NR_073366,NM_018981,NR_073365 DNAJC10,DNAJC10,DNAJC10,DNAJC10,DNAJC10 EXON Missense_M471L,Silent,Silent,Missense_M517L,Silent exm1992327 2 183621059 [C/G] NM_001271581,NR_073367,NR_073366,NM_018981,NR_073365 DNAJC10,DNAJC10,DNAJC10,DNAJC10,DNAJC10 EXON Missense_V512L,Silent,Silent,Missense_V558L,Silent exm250650 2 183621072 [T/C] NM_001271581,NR_073367,NR_073366,NM_018981,NR_073365 DNAJC10,DNAJC10,DNAJC10,DNAJC10,DNAJC10 EXON Missense_T516I,Silent,Silent,Missense_T562I,Silent exm250663 2 183622547 [T/G] NM_001271581,NR_073367,NR_073366,NM_018981,NR_073365 DNAJC10,DNAJC10,DNAJC10,DNAJC10,DNAJC10 EXON Missense_H600Q,Silent,Silent,Missense_H646Q,Silent exm250678 2 183640121 [C/G] NM_001271581,NR_073367,NR_073366,NM_018981,NR_073365 DNAJC10,DNAJC10,DNAJC10,DNAJC10,DNAJC10 EXON Missense_L736V,Silent,Silent,Missense_L782V,Silent exm2269353 2 183666932 [T/C] exm250688 2 183699673 [T/C] NM_001463 FRZB EXON Missense_R294H exm250690 2 183699682 [A/G] NM_001463 FRZB EXON Missense_M291T exm250698 2 183703144 [A/G] NM_001463 FRZB EXON Missense_R264C exm250699 2 183703147 [T/C] NM_001463 FRZB EXON Missense_E263K exm250703 2 183703239 [T/C] NM_001463 FRZB EXON Missense_R232Q exm250706 2 183703336 [A/G] NM_001463 FRZB EXON Missense_R200W exm250707 2 183707220 [T/C] NM_001463 FRZB EXON Missense_N193S exm250708 2 183707224 [A/G] NM_001463 FRZB EXON Missense_R192W exm250719 2 183730988 [A/G] NM_001463 FRZB EXON Missense_I98T exm250751 2 183799524 [T/C] NM_013436,NM_205842 NCKAP1,NCKAP1 EXON Missense_I939V,Missense_I945V exm250787 2 183826940 [T/C] NM_013436,NM_205842 NCKAP1,NCKAP1 EXON Missense_A610T,Missense_A616T exm250792 2 183841647 [T/C] NM_013436,NM_205842 NCKAP1,NCKAP1 EXON Missense_M486V,Missense_M492V exm250822 2 183866859 [T/C] NM_013436,NM_205842 NCKAP1,NCKAP1 EXON Missense_A170T,Missense_A176T exm250826 2 183867725 [T/C] NM_013436,NM_205842 NCKAP1,NCKAP1 EXON Missense_V116I,Missense_V122I exm250836 2 183902743 [T/G] NM_013436,NM_205842 NCKAP1,NCKAP1 EXON Missense_T29P,Missense_T29P exm250846 2 183943860 [C/G] NM_001142314,NM_080876 DUSP19,DUSP19 EXON Missense_G67R,Missense_G67R exm250855 2 183951802 [A/C] NM_001142314,NM_080876 DUSP19,DUSP19 EXON Silent,Missense_E103A exm250857 2 183951816 [A/G] NM_001142314,NM_080876 DUSP19,DUSP19 EXON Silent,Missense_S108G exm250858 2 183951825 [A/G] NM_001142314,NM_080876 DUSP19,DUSP19 EXON Silent,Missense_T111A exm250860 2 183951916 [T/G] NM_001142314,NM_080876 DUSP19,DUSP19 EXON Silent,Missense_R141I exm250894 2 183995175 [T/G] NM_138285 NUP35 EXON Missense_A81S exm250896 2 183995225 [G/C] NM_138285 NUP35 EXON Missense_D97E exm2273844 2 184023042 [A/G] NM_138285 NUP35 EXON Missense_R214H exm250926 2 184023135 [A/C] NM_138285 NUP35 EXON Missense_D245A exm250932 2 184024269 [A/T] NM_138285 NUP35 EXON Missense_F264L exm250946 2 184025845 [A/G] NM_138285 NUP35 EXON Missense_M323V exm2263960 2 184298771 [A/C] exm2261127 2 185018296 [A/G] exm2265246 2 185099836 [A/G] exm250949 2 185463700 [A/G] NM_194250 ZNF804A EXON Missense_Y5C exm-rs1344706 2 185778428 [A/C] NM_194250 ZNF804A Silent exm1992449 2 185798417 [A/C] NM_194250 ZNF804A EXON Missense_Q115K exm250961 2 185798445 [A/G] NM_194250 ZNF804A EXON Missense_R124K exm250963 2 185800584 [A/G] NM_194250 ZNF804A EXON Missense_R154Q exm250966 2 185800655 [A/G] NM_194250 ZNF804A EXON Missense_K178E exm250967 2 185800661 [A/G] NM_194250 ZNF804A EXON Missense_A180T exm250974 2 185800842 [T/C] NM_194250 ZNF804A EXON Missense_A240V exm250976 2 185800905 [T/A] NM_194250 ZNF804A EXON Missense_Q261L exm250977 2 185800943 [A/C] NM_194250 ZNF804A EXON Missense_K274Q exm250978 2 185800952 [T/A] NM_194250 ZNF804A EXON Missense_S277T exm250988 2 185801073 [A/G] NM_194250 ZNF804A EXON Missense_Q317R exm250990 2 185801097 [T/G] NM_194250 ZNF804A EXON Missense_C325F exm250991 2 185801103 [A/C] NM_194250 ZNF804A EXON Missense_N327T exm250998 2 185801348 [A/G] NM_194250 ZNF804A EXON Missense_I409V exm251003 2 185801559 [A/G] NM_194250 ZNF804A EXON Missense_D479G exm251004 2 185801597 [A/G] NM_194250 ZNF804A EXON Missense_I492V exm251006 2 185801613 [T/C] NM_194250 ZNF804A EXON Missense_L497P exm251010 2 185801684 [A/T] NM_194250 ZNF804A EXON Missense_S521C exm251011 2 185801747 [A/G] NM_194250 ZNF804A EXON Missense_E542K exm251012 2 185801754 [T/C] NM_194250 ZNF804A EXON Missense_T544I exm251014 2 185801756 [A/G] NM_194250 ZNF804A EXON Missense_G545S exm251024 2 185801937 [T/A] NM_194250 ZNF804A EXON Missense_H605L exm251040 2 185802243 [A/C] NM_194250 ZNF804A EXON Missense_T707K exm2236765 2 185802335 [A/G] NM_194250 ZNF804A EXON Missense_S738G exm251042 2 185802363 [A/G] NM_194250 ZNF804A EXON Missense_H747R exm251045 2 185802398 [A/G] NM_194250 ZNF804A EXON Missense_N759D exm1992464 2 185802542 [A/C] NM_194250 ZNF804A EXON Missense_K807Q exm251054 2 185802591 [T/C] NM_194250 ZNF804A EXON Missense_F823S exm2236767 2 185802872 [T/C] NM_194250 ZNF804A EXON Missense_S917P exm251070 2 185803098 [T/C] NM_194250 ZNF804A EXON Missense_L992P exm251073 2 185803160 [A/T] NM_194250 ZNF804A EXON Missense_S1013C exm251078 2 185803262 [A/G] NM_194250 ZNF804A EXON Missense_V1047I exm251089 2 185803445 [A/G] NM_194250 ZNF804A EXON Missense_A1108T exm251110 2 185803742 [T/C] NM_194250 ZNF804A EXON Missense_P1207S exm2265373 2 185944619 [A/G] exm2265374 2 186317662 [A/G] exm251173 2 186627943 [T/C] NM_173651 FSIP2 EXON Missense_I514T exm251174 2 186627949 [T/C] NM_173651 FSIP2 EXON Missense_A516V exm251176 2 186653394 [A/C] NM_173651 FSIP2 EXON Missense_I600L exm2236771 2 186653502 [A/G] NM_173651 FSIP2 EXON Missense_D636N exm251184 2 186654592 [A/G] NM_173651 FSIP2 EXON Missense_N999S exm251186 2 186654867 [G/C] NM_173651 FSIP2 EXON Missense_D1091H exm251189 2 186655726 [A/G] NM_173651 FSIP2 EXON Missense_R1377Q exm251192 2 186656179 [C/G] NM_173651 FSIP2 EXON Missense_T1528R exm251196 2 186656889 [T/A] NM_173651 FSIP2 EXON Missense_T1765S exm251197 2 186656956 [T/C] NM_173651 FSIP2 EXON Missense_M1787T exm2236774 2 186657192 [A/G] NM_173651 FSIP2 EXON Missense_I1866V exm251200 2 186658056 [A/G] NM_173651 FSIP2 EXON Missense_D2154N exm251201 2 186658089 [A/C] NM_173651 FSIP2 EXON Missense_L2165M exm251202 2 186658438 [T/C] NM_173651 FSIP2 EXON Missense_T2281M exm2236776 2 186658500 [T/C] NM_173651 FSIP2 EXON Missense_R2302C exm251203 2 186658565 [T/G] NM_173651 FSIP2 EXON Missense_E2323D exm251206 2 186659184 [A/C] NM_173651 FSIP2 EXON Missense_Q2530K exm251208 2 186659359 [T/G] NM_173651 FSIP2 EXON Missense_R2588M exm2236779 2 186660012 [A/G] NM_173651 FSIP2 EXON Missense_M2806V exm251211 2 186660561 [A/G] NM_173651 FSIP2 EXON Missense_K2989E exm251212 2 186660741 [T/C] NM_173651 FSIP2 EXON Missense_F3049L exm251213 2 186660810 [A/G] NM_173651 FSIP2 EXON Missense_G3072S exm251215 2 186661399 [A/G] NM_173651 FSIP2 EXON Missense_N3268S exm251217 2 186661567 [A/G] NM_173651 FSIP2 EXON Missense_C3324Y exm251218 2 186661602 [A/G] NM_173651 FSIP2 EXON Missense_R3336G exm251223 2 186664825 [A/G] NM_173651 FSIP2 EXON Missense_G3687S exm251224 2 186664963 [A/C] NM_173651 FSIP2 EXON Missense_L3733I exm2236783 2 186665044 [A/C] NM_173651 FSIP2 EXON Missense_N3760H exm2236784 2 186665191 [C/G] NM_173651 FSIP2 EXON Missense_G3809R exm251226 2 186665432 [A/G] NM_173651 FSIP2 EXON Missense_G3889E exm2236785 2 186665464 [T/C] NM_173651 FSIP2 EXON Missense_C3900R exm251229 2 186665824 [A/G] NM_173651 FSIP2 EXON Missense_N4020D exm2236787 2 186666338 [T/C] NM_173651 FSIP2 EXON Missense_P4191L exm251233 2 186667121 [T/C] NM_173651 FSIP2 EXON Missense_F4452S exm251234 2 186667360 [A/C] NM_173651 FSIP2 EXON Missense_I4532L exm251235 2 186667891 [T/G] NM_173651 FSIP2 EXON Missense_S4709A exm251236 2 186668714 [T/A] NM_173651 FSIP2 EXON Missense_K4983I exm251238 2 186668935 [A/G] NM_173651 FSIP2 EXON Missense_M5057V exm251240 2 186669325 [A/G] NM_173651 FSIP2 EXON Missense_I5187V exm251245 2 186670104 [A/C] NM_173651 FSIP2 EXON Missense_E5446D exm251246 2 186670192 [A/G] NM_173651 FSIP2 EXON Missense_K5476E exm251248 2 186670288 [G/C] NM_173651 FSIP2 EXON Missense_V5508L exm251249 2 186670379 [T/C] NM_173651 FSIP2 EXON Missense_T5538I exm251258 2 186670526 [T/C] NM_173651 FSIP2 EXON Missense_I5587T exm251260 2 186670537 [A/G] NM_173651 FSIP2 EXON Missense_G5591S exm251269 2 186670780 [A/T] NM_173651 FSIP2 EXON Missense_Y5672N exm251276 2 186670979 [T/C] NM_173651 FSIP2 EXON Missense_I5738T exm251286 2 186671218 [A/G] NM_173651 FSIP2 EXON Missense_V5818I exm251295 2 186671357 [A/G] NM_173651 FSIP2 EXON Missense_R5864Q exm251297 2 186671423 [A/G] NM_173651 FSIP2 EXON Missense_Q5886R exm2236797 2 186671638 [A/G] NM_173651 FSIP2 EXON Missense_R5958G exm251311 2 186671912 [A/G] NM_173651 FSIP2 EXON Missense_R6049H exm251312 2 186671965 [A/C] NM_173651 FSIP2 EXON Missense_L6067M exm251315 2 186672146 [A/G] NM_173651 FSIP2 EXON Missense_D6127G exm251319 2 186672290 [A/G] NM_173651 FSIP2 EXON Missense_Q6175R exm251321 2 186672400 [T/C] NM_173651 FSIP2 EXON Nonsense_R6212X exm251325 2 186672527 [T/A] NM_173651 FSIP2 EXON Missense_L6254Q exm251326 2 186672547 [T/G] NM_173651 FSIP2 EXON Missense_D6261Y exm251348 2 186673315 [A/C] NM_173651 FSIP2 EXON Missense_N6517H exm251355 2 186673531 [A/G] NM_173651 FSIP2 EXON Missense_I6589V exm251357 2 186673618 [A/C] NM_173651 FSIP2 EXON Missense_P6618T exm251358 2 186673628 [T/C] NM_173651 FSIP2 EXON Missense_I6621T exm251363 2 186673805 [T/C] NM_173651 FSIP2 EXON Missense_T6680I exm251364 2 186673830 [C/G] NM_173651 FSIP2 EXON Missense_K6688N exm251375 2 186678633 [T/C] NM_173651 FSIP2 EXON Missense_T6819I exm251377 2 186678720 [T/C] NM_173651 FSIP2 EXON Missense_T6848M exm251389 2 186697834 [A/G] NM_173651 FSIP2 EXON Missense_V6958I exm251390 2 186697876 [A/G] NM_173651 FSIP2 EXON Missense_T6972A exm2265247 2 187150058 [A/G] exm251401 2 187360053 [C/G] NM_018471 ZC3H15 EXON Missense_P57A exm251406 2 187366061 [T/G] NM_018471 ZC3H15 EXON Missense_D117E exm251416 2 187368842 [G/C] NM_018471 ZC3H15 EXON Missense_M206I exm251419 2 187368911 [T/A] NM_018471 ZC3H15 EXON Missense_E229D exm251426 2 187370262 [A/G] NM_018471 ZC3H15 EXON Missense_D268N exm251436 2 187373341 [A/G] NM_018471 ZC3H15 EXON Missense_E388K exm251437 2 187373377 [A/G] NM_018471 ZC3H15 EXON Missense_V400I exm251446 2 187466749 [T/C] NM_001145000,NM_002210,NM_001144999 ITGAV,ITGAV,ITGAV EXON Missense_R63W,Missense_R63W,Missense_R17W exm1992539 2 187466764 [A/G] NM_001145000,NM_002210,NM_001144999 ITGAV,ITGAV,ITGAV EXON Missense_V68M,Missense_V68M,Missense_V22M exm1992540 2 187466849 [A/G] NM_001145000,NM_002210,NM_001144999 ITGAV,ITGAV,ITGAV EXON Missense_R96Q,Missense_R96Q,Missense_R50Q exm2265375 2 187481835 [A/G] NM_001145000,NM_002210,NM_001144999 ITGAV,ITGAV,ITGAV Silent,Silent,Silent exm251473 2 187501819 [A/G] NM_001145000,NM_002210,NM_001144999 ITGAV,ITGAV,ITGAV EXON Missense_N226S,Missense_N262S,Missense_N216S exm251487 2 187506276 [A/G] NM_001145000,NM_002210,NM_001144999 ITGAV,ITGAV,ITGAV EXON Missense_I338V,Missense_I374V,Missense_I328V exm251494 2 187511466 [A/G] NM_001145000,NM_002210,NM_001144999 ITGAV,ITGAV,ITGAV EXON Missense_I369V,Missense_I405V,Missense_I359V exm251503 2 187516795 [G/C] NM_001145000,NM_002210,NM_001144999 ITGAV,ITGAV,ITGAV EXON Missense_G459A,Missense_G495A,Missense_G449A exm251511 2 187521051 [T/G] NM_001145000,NM_002210,NM_001144999 ITGAV,ITGAV,ITGAV EXON Missense_S512A,Missense_S548A,Missense_S502A exm1992567 2 187521057 [A/G] NM_001145000,NM_002210,NM_001144999 ITGAV,ITGAV,ITGAV EXON Missense_S514G,Missense_S550G,Missense_S504G exm251512 2 187521064 [T/C] NM_001145000,NM_002210,NM_001144999 ITGAV,ITGAV,ITGAV EXON Missense_S516F,Missense_S552F,Missense_S506F exm251514 2 187521118 [T/C] NM_001145000,NM_002210,NM_001144999 ITGAV,ITGAV,ITGAV EXON Missense_A534V,Missense_A570V,Missense_A524V exm251522 2 187523880 [T/C] NM_001145000,NM_002210,NM_001144999 ITGAV,ITGAV,ITGAV EXON Missense_T576M,Missense_T612M,Missense_T566M exm251527 2 187529315 [A/G] NM_001145000,NM_002210,NM_001144999 ITGAV,ITGAV,ITGAV EXON Missense_I638V,Missense_I674V,Missense_I628V exm251543 2 187532418 [T/C] NM_001145000,NM_002210,NM_001144999 ITGAV,ITGAV,ITGAV EXON Missense_V747A,Missense_V783A,Missense_V737A exm251552 2 187533499 [A/G] NM_001145000,NM_002210,NM_001144999 ITGAV,ITGAV,ITGAV EXON Missense_N779S,Missense_N815S,Missense_N769S exm251558 2 187540395 [A/G] NM_001145000,NM_002210,NM_001144999 ITGAV,ITGAV,ITGAV EXON Missense_S888N,Missense_S924N,Missense_S878N exm251561 2 187540409 [A/G] NM_001145000,NM_002210,NM_001144999 ITGAV,ITGAV,ITGAV EXON Missense_V893I,Missense_V929I,Missense_V883I exm251564 2 187540444 [A/T] NM_001145000,NM_002210,NM_001144999 ITGAV,ITGAV,ITGAV EXON Missense_N904K,Missense_N940K,Missense_N894K exm251580 2 187541661 [A/G] NM_001145000,NM_002210,NM_001144999 ITGAV,ITGAV,ITGAV EXON Missense_R981K,Missense_R1017K,Missense_R971K exm251592 2 187558977 [T/G] NM_177454 FAM171B EXON Missense_V26G exm251601 2 187559081 [A/G] NM_177454 FAM171B EXON Missense_E61K exm251604 2 187605000 [A/G] NM_177454 FAM171B EXON Missense_R95H exm251607 2 187605045 [T/C] NM_177454 FAM171B EXON Missense_T110M exm251611 2 187605123 [T/C] NM_177454 FAM171B EXON Missense_T136I exm251618 2 187611914 [G/C] NM_177454 FAM171B EXON Missense_L221V exm251623 2 187615884 [T/C] NM_177454 FAM171B EXON Missense_P250S exm251625 2 187615917 [A/G] NM_177454 FAM171B EXON Missense_G261R exm251635 2 187618680 [T/C] NM_177454 FAM171B EXON Missense_R306W exm2273845 2 187618768 [A/G] NM_177454 FAM171B EXON Missense_G335E exm251665 2 187626888 [A/C] NM_177454 FAM171B EXON Missense_L607I exm251692 2 187692794 [A/G] NM_182521 ZSWIM2 EXON Missense_H607Y exm251704 2 187692956 [T/G] NM_182521 ZSWIM2 EXON Missense_H553N exm251705 2 187692983 [T/C] NM_182521 ZSWIM2 EXON Missense_M544V exm251706 2 187692986 [A/G] NM_182521 ZSWIM2 EXON Missense_R543W exm251708 2 187693003 [T/A] NM_182521 ZSWIM2 EXON Missense_F537Y exm1992656 2 187693027 [T/C] NM_182521 ZSWIM2 EXON Missense_E529G exm251713 2 187693249 [C/G] NM_182521 ZSWIM2 EXON Missense_P455R exm251715 2 187693258 [T/A] NM_182521 ZSWIM2 EXON Nonsense_L452X exm251718 2 187693304 [T/C] NM_182521 ZSWIM2 EXON Missense_R437G exm251723 2 187693393 [C/G] NM_182521 ZSWIM2 EXON Missense_S407C exm251724 2 187693439 [T/G] NM_182521 ZSWIM2 EXON Missense_P392T exm251725 2 187693444 [T/C] NM_182521 ZSWIM2 EXON Missense_Y390C exm251733 2 187694461 [A/G] NM_182521 ZSWIM2 EXON Missense_T363I exm251742 2 187697883 [A/G] NM_182521 ZSWIM2 EXON Missense_I302T exm251743 2 187697884 [T/C] NM_182521 ZSWIM2 EXON Missense_I302V exm251745 2 187697899 [T/C] NM_182521 ZSWIM2 EXON Missense_D297N exm251751 2 187698707 [T/C] NM_182521 ZSWIM2 EXON Missense_C265Y exm251755 2 187702055 [A/G] NM_182521 ZSWIM2 EXON Missense_P241S exm251757 2 187702108 [T/C] NM_182521 ZSWIM2 EXON Missense_K223R exm251770 2 187703881 [C/G] NM_182521 ZSWIM2 EXON Missense_G100A exm251776 2 187709483 [T/C] NM_182521 ZSWIM2 EXON Missense_V82I exm2265248 2 187838940 [A/G] exm2265376 2 188131502 [A/G] exm-rs840616 2 188196469 [T/C] exm251822 2 188245439 [A/G] NM_001271751,NM_005795 CALCRL,CALCRL EXON Missense_L87P,Missense_L87P exm251823 2 188245446 [T/C] NM_001271751,NM_005795 CALCRL,CALCRL EXON Missense_M85V,Missense_M85V exm251826 2 188250275 [T/A] NM_001271751,NM_005795 CALCRL,CALCRL EXON Missense_F16L,Missense_F16L exm251827 2 188250301 [A/T] NM_001271751,NM_005795 CALCRL,CALCRL EXON Missense_N8Y,Missense_N8Y exm2263920 2 188291105 [A/C] NM_001271751,NM_005795 CALCRL,CALCRL Silent,Silent exm251830 2 188331704 [T/C] NM_006287 TFPI EXON Missense_V292M exm251838 2 188332602 [T/C] NM_006287 TFPI EXON Missense_N229S exm251842 2 188343414 [A/C] NM_006287,NM_001032281 TFPI,TFPI EXON Silent,Missense_C249G exm251846 2 188343497 [T/C] NM_006287,NM_001032281 TFPI,TFPI EXON Silent,Missense_N221S exm251847 2 188343515 [T/G] NM_006287,NM_001032281 TFPI,TFPI EXON Silent,Missense_T215K exm251852 2 188348943 [A/G] NM_006287,NM_001032281 TFPI,TFPI EXON Missense_P179L,Missense_P179L exm251855 2 188349633 [T/G] NM_006287,NM_001032281 TFPI,TFPI EXON Missense_T147K,Missense_T147K exm251869 2 188368497 [A/T] NM_006287,NM_001032281 TFPI,TFPI EXON Silent,Silent exm2261133 2 188800394 [T/C] exm251888 2 189434833 [G/C] NM_001252668,NM_016315,NM_001252669,NR_045562,NR_045563 GULP1,GULP1,GULP1,GULP1,GULP1 EXON Missense_V199L,Missense_V199L,Missense_V96L,Silent,Silent exm251892 2 189448992 [A/G] NM_001252668,NM_016315,NM_001252669,NR_045562,NR_045563 GULP1,GULP1,GULP1,GULP1,GULP1 EXON Missense_A204T,Missense_A204T,Missense_A101T,Silent,Silent exm251904 2 189452670 [T/G] NM_001252668,NM_016315,NM_001252669,NR_045562,NR_045563 GULP1,GULP1,GULP1,GULP1,GULP1 EXON Missense_E279D,Missense_E279D,Missense_E176D,Silent,Silent exm251916 2 189599373 [A/G] NM_052952 DIRC1 EXON Missense_L92S exm251917 2 189599386 [A/C] NM_052952 DIRC1 EXON Missense_C88G exm251920 2 189599497 [A/C] NM_052952 DIRC1 EXON Missense_S51A exm251922 2 189599515 [A/T] NM_052952 DIRC1 EXON Missense_N45Y exm251939 2 189849536 [A/G] NM_000090 COL3A1 EXON Missense_V44I exm251943 2 189849632 [A/G] NM_000090 COL3A1 EXON Missense_N76D exm251944 2 189849672 [T/C] NM_000090 COL3A1 EXON Missense_P89L exm2236813 2 189849929 [T/C] NM_000090 COL3A1 EXON Missense_R97C exm251956 2 189851842 [T/C] NM_000090 COL3A1 EXON Missense_L169F exm251970 2 189855743 [A/G] NM_000090 COL3A1 EXON Missense_R271Q exm252000 2 189860458 [T/C] NM_000090 COL3A1 EXON Missense_P517L exm252004 2 189860494 [T/C] NM_000090 COL3A1 EXON Missense_V529A exm1992790 2 189861158 [T/C] NM_000090 COL3A1 EXON Missense_P566L exm252017 2 189861933 [A/C] NM_000090 COL3A1 EXON Missense_P602T exm2275622 2 189863424 [A/C] NM_000090 COL3A1 EXON Missense_P668T exm252039 2 189864023 [A/G] NM_000090 COL3A1 EXON Missense_A679T exm252040 2 189864044 [C/G] NM_000090 COL3A1 EXON Missense_P686A exm252043 2 189864080 [A/G] NM_000090 COL3A1 EXON Missense_A698T exm252071 2 189870163 [A/G] NM_000090 COL3A1 EXON Missense_A1007T exm1992828 2 189870953 [A/C] NM_000090 COL3A1 EXON Missense_L1021I exm1992831 2 189871110 [A/G] NM_000090 COL3A1 EXON Missense_A1045T exm252082 2 189872660 [T/C] NM_000090 COL3A1 EXON Missense_P1138L exm252092 2 189873737 [A/G] NM_000090 COL3A1 EXON Missense_I1205V exm252101 2 189873942 [A/G] NM_000090 COL3A1 EXON Missense_K1273R exm252105 2 189875018 [A/G] NM_000090 COL3A1 EXON Missense_K1313R exm252112 2 189875383 [A/G] NM_000090 COL3A1 EXON Missense_G1341S exm252114 2 189875421 [T/G] NM_000090 COL3A1 EXON Missense_H1353Q exm2261134 2 189883644 [A/G] exm252129 2 189898846 [T/C] NM_000393 COL5A2 EXON Missense_G1484S exm252137 2 189898938 [T/C] NM_000393 COL5A2 EXON Missense_R1453Q exm252141 2 189899700 [A/T] NM_000393 COL5A2 EXON Missense_D1432V exm252142 2 189899755 [T/C] NM_000393 COL5A2 EXON Missense_D1414N exm252152 2 189901388 [T/C] NM_000393 COL5A2 EXON Missense_D1356G exm252157 2 189904004 [C/G] NM_000393 COL5A2 EXON Missense_Q1307E exm252172 2 189904195 [T/C] NM_000393 COL5A2 EXON Missense_S1243N exm252177 2 189906331 [A/G] NM_000393 COL5A2 EXON Missense_V1205A exm252190 2 189909952 [A/G] NM_000393 COL5A2 EXON Missense_R1106W exm252193 2 189910527 [A/G] NM_000393 COL5A2 EXON Missense_P1103L exm1992871 2 189914122 [A/G] NM_000393 COL5A2 EXON Missense_P1033L exm252213 2 189916110 [C/G] NM_000393 COL5A2 EXON Missense_R956P exm252237 2 189918622 [A/G] NM_000393 COL5A2 EXON Missense_P833L exm252244 2 189918922 [A/G] NM_000393 COL5A2 EXON Missense_L803S exm252252 2 189922092 [G/C] NM_000393 COL5A2 EXON Missense_P764R exm252269 2 189926308 [A/G] NM_000393 COL5A2 EXON Missense_P671S exm252273 2 189927592 [A/G] NM_000393 COL5A2 EXON Missense_P659L exm252279 2 189929341 [A/G] NM_000393 COL5A2 EXON Missense_P553L exm252282 2 189929366 [A/G] NM_000393 COL5A2 EXON Missense_R545W exm252286 2 189931144 [A/G] NM_000393 COL5A2 EXON Missense_V512A exm252291 2 189931456 [T/G] NM_000393 COL5A2 EXON Missense_P485Q exm252292 2 189932742 [A/G] NM_000393 COL5A2 EXON Missense_P467L exm252293 2 189932764 [A/G] NM_000393 COL5A2 EXON Missense_P460S exm252299 2 189932953 [A/G] NM_000393 COL5A2 EXON Missense_T434M exm252300 2 189932962 [T/C] NM_000393 COL5A2 EXON Missense_K431R exm252304 2 189940142 [T/G] NM_000393 COL5A2 EXON Missense_M361L exm1992931 2 189943809 [T/C] NM_000393 COL5A2 EXON Missense_M329V exm252352 2 189975010 [T/G] NM_000393 COL5A2 EXON Missense_P88H exm252356 2 189975040 [A/T] NM_000393 COL5A2 EXON Missense_D78V exm252376 2 190313148 [A/G] NM_032168 WDR75 EXON Missense_T44A exm252393 2 190320047 [T/A] NM_032168 WDR75 EXON Missense_D125E exm252396 2 190320168 [A/G] NM_032168 WDR75 EXON Missense_E166K exm252397 2 190320169 [T/A] NM_032168 WDR75 EXON Missense_E166V exm2265250 2 190323530 [A/G] NM_032168 WDR75 EXON Synonymous_T207T exm252414 2 190327230 [A/G] NM_032168 WDR75 EXON Missense_G267S exm252427 2 190328455 [A/G] NM_032168 WDR75 EXON Missense_A325T exm252439 2 190329929 [T/C] NM_032168 WDR75 EXON Missense_T413I exm252441 2 190331180 [T/C] NM_032168 WDR75 EXON Missense_P440L exm252443 2 190331237 [G/C] NM_032168 WDR75 EXON Missense_P459R exm252447 2 190331306 [A/G] NM_032168 WDR75 EXON Missense_Y482C exm252448 2 190331307 [T/C] NM_032168 WDR75 EXON Synonymous_Y482Y exm252452 2 190333234 [G/C] NM_032168 WDR75 EXON Missense_K554N exm252454 2 190334119 [A/T] NM_032168 WDR75 EXON Missense_N591K exm252462 2 190338959 [C/G] NM_032168 WDR75 EXON Missense_L699F exm252464 2 190338996 [A/G] NM_032168 WDR75 EXON Missense_E712K exm252468 2 190339047 [T/G] NM_032168 WDR75 EXON Missense_A729S exm252469 2 190339048 [T/C] NM_032168 WDR75 EXON Missense_A729V exm1992991 2 190339483 [T/C] NM_032168 WDR75 EXON Missense_F746S exm252474 2 190339961 [A/G] NM_032168 WDR75 EXON Missense_V771I exm252482 2 190426639 [T/C] NM_014585 SLC40A1 EXON Missense_R561G exm1992994 2 190426666 [T/C] NM_014585 SLC40A1 EXON Missense_A552T exm252485 2 190426750 [T/C] NM_014585 SLC40A1 EXON Missense_V524I exm252487 2 190428333 [C/G] NM_014585 SLC40A1 EXON Missense_A460G exm252492 2 190428384 [A/G] NM_014585 SLC40A1 EXON Missense_P443L exm252494 2 190428418 [T/C] NM_014585 SLC40A1 EXON Missense_M432V exm252502 2 190428601 [A/G] NM_014585 SLC40A1 EXON Missense_R371W exm252507 2 190428835 [A/G] NM_014585 SLC40A1 EXON Missense_R293C exm252510 2 190430096 [A/C] NM_014585 SLC40A1 EXON Missense_Q248H exm252514 2 190430214 [A/G] NM_014585 SLC40A1 EXON Missense_S209L exm252524 2 190437572 [A/G] NM_014585 SLC40A1 EXON Synonymous_L129L exm-rs7568054 2 190497896 [A/G] exm252549 2 190530959 [A/G] NM_019048 ASNSD1 EXON Missense_S34N exm252561 2 190531169 [A/G] NM_019048 ASNSD1 EXON Missense_N104S exm252566 2 190531426 [A/G] NM_019048 ASNSD1 EXON Missense_G190R exm252572 2 190531538 [T/C] NM_019048 ASNSD1 EXON Missense_S227L exm252574 2 190531615 [T/C] NM_019048 ASNSD1 EXON Synonymous_L253L exm252576 2 190531717 [A/G] NM_019048 ASNSD1 EXON Missense_I287V exm1993019 2 190531802 [T/C] NM_019048 ASNSD1 EXON Missense_T315M exm252586 2 190532059 [T/G] NM_019048 ASNSD1 EXON Missense_V401F exm252590 2 190532113 [A/G] NM_019048 ASNSD1 EXON Missense_V419I exm252591 2 190532158 [A/G] NM_019048 ASNSD1 EXON Missense_M434V exm252592 2 190532159 [T/C] NM_019048 ASNSD1 EXON Missense_M434T exm252594 2 190532183 [A/G] NM_019048 ASNSD1 EXON Missense_R442K exm252596 2 190532206 [T/C] NM_019048 ASNSD1 EXON Missense_R450W exm252598 2 190532236 [A/G] NM_019048 ASNSD1 EXON Missense_I460V exm252607 2 190532536 [A/C] NM_019048 ASNSD1 EXON Missense_S504Y exm252623 2 190535429 [A/G] NM_019048 ASNSD1 EXON Missense_I637V exm2275623 2 190541497 [T/C] NM_144708 ANKAR EXON Missense_L94P exm252632 2 190541644 [T/C] NM_144708 ANKAR EXON Missense_I143T exm252637 2 190541743 [A/G] NM_144708 ANKAR EXON Missense_R176H exm252640 2 190541807 [T/G] NM_144708 ANKAR EXON Missense_F197L exm252642 2 190554267 [A/G] NM_144708 ANKAR EXON Missense_T206A exm252648 2 190554377 [T/G] NM_144708 ANKAR EXON Missense_N242K exm252649 2 190554462 [A/G] NM_144708 ANKAR EXON Missense_N271D exm252655 2 190557112 [T/C] NM_144708 ANKAR EXON Missense_P391S exm252657 2 190557894 [A/G] NM_144708 ANKAR EXON Missense_H433R exm252660 2 190559712 [A/C] NM_144708 ANKAR EXON Missense_Y438S exm252666 2 190560942 [T/C] NM_144708 ANKAR EXON Missense_R519C exm252669 2 190561003 [T/A] NM_144708 ANKAR EXON Missense_H539L exm252670 2 190561060 [A/G] NM_144708 ANKAR EXON Missense_K558R exm252671 2 190561080 [A/G] NM_144708 ANKAR EXON Missense_V565I exm1993044 2 190569763 [T/C] NM_144708 ANKAR EXON Missense_H575Y exm252679 2 190569908 [A/G] NM_144708 ANKAR EXON Missense_C623Y exm252681 2 190569944 [T/C] NM_144708 ANKAR EXON Missense_T635I exm252683 2 190571692 [A/G] NM_144708 ANKAR EXON Missense_A647T exm252685 2 190571776 [A/G] NM_144708 ANKAR EXON Missense_I675V exm252689 2 190575775 [A/C] NM_144708 ANKAR EXON Missense_E707A exm252692 2 190575802 [A/G] NM_144708 ANKAR EXON Missense_R716Q exm252700 2 190584400 [T/C] NM_144708 ANKAR EXON Missense_V776A exm252704 2 190584448 [T/C] NM_144708 ANKAR EXON Missense_L792P exm252705 2 190584478 [A/G] NM_144708 ANKAR EXON Missense_R802H exm252722 2 190593090 [A/G] NM_144708 ANKAR EXON Missense_G992E exm252729 2 190593470 [T/C] NM_144708 ANKAR EXON Missense_V1039A exm252737 2 190595258 [T/G] NM_144708 ANKAR EXON Missense_L1077F exm252739 2 190595284 [T/G] NM_144708 ANKAR EXON Missense_V1086G exm2236832 2 190606143 [A/G] NM_144708 ANKAR EXON Missense_R1259Q exm252756 2 190606152 [A/C] NM_144708 ANKAR EXON Missense_Y1262S exm252758 2 190608005 [A/G] NM_144708 ANKAR EXON Missense_R1272H exm252763 2 190608172 [T/C] NM_144708 ANKAR EXON Nonsense_Q1328X exm252766 2 190611135 [A/G] NM_144708 ANKAR EXON Missense_K1363E exm252767 2 190611188 [T/G] NM_144708 ANKAR EXON Missense_M1380I exm252772 2 190611307 [T/C] NM_144708 ANKAR EXON Missense_L1420P exm252799 2 190618698 [A/G] NM_022353 OSGEPL1 EXON Missense_R303W exm252803 2 190618953 [A/G] NM_022353 OSGEPL1 EXON Missense_L243S exm252807 2 190620216 [T/C] NM_022353 OSGEPL1 EXON Missense_A98T exm252812 2 190626288 [T/G] NM_022353 OSGEPL1 EXON Missense_N27H exm252817 2 190636519 [A/G] NM_016467,NM_001128150 ORMDL1,ORMDL1 EXON Missense_R146W,Missense_R146W exm252819 2 190636608 [T/C] NM_016467,NM_001128150 ORMDL1,ORMDL1 EXON Missense_Y116C,Missense_Y116C exm252841 2 190656614 [C/G] NM_000534,NM_001128144,NM_001128143 PMS1,PMS1,PMS1 EXON Missense_E27Q,Missense_E27Q,Missense_E27Q exm252851 2 190660537 [A/G] NM_000534,NM_001128144,NM_001128143 PMS1,PMS1,PMS1 EXON Missense_E59K,Missense_E59K,Missense_E59K exm252852 2 190660586 [T/C] NM_000534,NM_001128144,NM_001128143 PMS1,PMS1,PMS1 EXON Missense_T75I,Missense_T75I,Missense_T75I exm252866 2 190682824 [A/G] NM_000534,NM_001128144,NM_001128143 PMS1,PMS1,PMS1 EXON Missense_D167G,Missense_D167G,Missense_D167G exm252870 2 190708697 [A/T] NM_000534,NM_001128144,NM_001128143 PMS1,PMS1,PMS1 EXON Missense_I197N,Missense_I197N,Silent exm252873 2 190708712 [A/G] NM_000534,NM_001128144,NM_001128143 PMS1,PMS1,PMS1 EXON Missense_R202K,Missense_R202K,Silent exm252885 2 190718804 [A/G] NM_000534,NM_001128144,NM_001128143 PMS1,PMS1,PMS1 EXON Missense_N321S,Missense_N321S,Missense_N282S exm252886 2 190718999 [T/C] NM_000534,NM_001128144,NM_001128143 PMS1,PMS1,PMS1 EXON Missense_T334M,Missense_T334M,Missense_T295M exm252888 2 190719061 [A/G] NM_000534,NM_001128144,NM_001128143 PMS1,PMS1,PMS1 EXON Missense_A355T,Missense_A355T,Missense_A316T exm252889 2 190719179 [T/C] NM_000534,NM_001128144,NM_001128143 PMS1,PMS1,PMS1 EXON Missense_M394T,Missense_M394T,Missense_M355T exm252901 2 190719499 [A/G] NM_000534,NM_001128144,NM_001128143 PMS1,PMS1,PMS1 EXON Missense_G501R,Missense_G501R,Missense_G462R exm252903 2 190719584 [A/G] NM_000534,NM_001128144,NM_001128143 PMS1,PMS1,PMS1 EXON Missense_S529N,Missense_S529N,Missense_S490N exm252904 2 190719607 [A/G] NM_000534,NM_001128144,NM_001128143 PMS1,PMS1,PMS1 EXON Missense_E537K,Missense_E537K,Missense_E498K exm252905 2 190719641 [A/G] NM_000534,NM_001128144,NM_001128143 PMS1,PMS1,PMS1 EXON Missense_K548R,Missense_K548R,Missense_K509R exm252908 2 190719742 [A/G] NM_000534,NM_001128144,NM_001128143 PMS1,PMS1,PMS1 EXON Missense_V582I,Missense_V582I,Missense_V543I exm252910 2 190719789 [T/G] NM_000534,NM_001128144,NM_001128143 PMS1,PMS1,PMS1 EXON Missense_S597R,Missense_S597R,Missense_S558R exm252914 2 190728500 [T/C] NM_000534,NM_001128144,NM_001128143 PMS1,PMS1,PMS1 EXON Nonsense_R630X,Silent,Nonsense_R591X exm252916 2 190728507 [A/G] NM_000534,NM_001128144,NM_001128143 PMS1,PMS1,PMS1 EXON Missense_N632S,Silent,Missense_N593S exm252923 2 190728779 [A/G] NM_000534,NM_001128144,NM_001128143 PMS1,PMS1,PMS1 EXON Missense_E723K,Silent,Missense_E684K exm252924 2 190728798 [A/G] NM_000534,NM_001128144,NM_001128143 PMS1,PMS1,PMS1 EXON Missense_N729S,Silent,Missense_N690S exm252930 2 190728953 [A/G] NM_000534,NM_001128144,NM_001128143 PMS1,PMS1,PMS1 EXON Missense_S781G,Silent,Missense_S742G exm252931 2 190732533 [A/G] NM_000534,NM_001128144,NM_001128143 PMS1,PMS1,PMS1 EXON Missense_N784S,Missense_N622S,Missense_N745S exm252932 2 190732559 [T/C] NM_000534,NM_001128144,NM_001128143 PMS1,PMS1,PMS1 EXON Missense_Y793H,Missense_Y631H,Missense_Y754H exm252934 2 190732599 [G/C] NM_000534,NM_001128144,NM_001128143 PMS1,PMS1,PMS1 EXON Missense_T806S,Missense_T644S,Missense_T767S exm252936 2 190732626 [T/C] NM_000534,NM_001128144,NM_001128143 PMS1,PMS1,PMS1 EXON Missense_A815V,Missense_A653V,Missense_A776V exm252940 2 190742010 [T/C] NM_000534,NM_001128144,NM_001128143 PMS1,PMS1,PMS1 EXON Missense_R883C,Missense_R721C,Missense_R844C exm2273846 2 190742118 [T/C] NM_000534,NM_001128144,NM_001128143 PMS1,PMS1,PMS1 EXON Missense_R919C,Missense_R757C,Missense_R880C exm252944 2 190742119 [A/G] NM_000534,NM_001128144,NM_001128143 PMS1,PMS1,PMS1 EXON Missense_R919H,Missense_R757H,Missense_R880H exm2265378 2 190827023 [A/G] exm252963 2 190924822 [A/G] NM_005259 MSTN EXON Missense_A238V exm252965 2 190924861 [A/G] NM_005259 MSTN EXON Missense_I225T exm252969 2 190924997 [T/C] NM_005259 MSTN EXON Missense_M180V exm252971 2 190925045 [T/C] NM_005259 MSTN EXON Missense_E164K exm252975 2 190925077 [T/C] NM_005259 MSTN EXON Missense_K153R exm252979 2 190925149 [A/C] NM_005259 MSTN EXON Missense_M129R exm252980 2 190925160 [A/T] NM_005259 MSTN EXON Synonymous_S125S exm252984 2 190927060 [T/C] NM_005259 MSTN EXON Missense_R88Q exm252988 2 190927129 [T/C] NM_005259 MSTN EXON Missense_R65H exm252991 2 190927160 [T/C] NM_005259 MSTN EXON Missense_A55T exm252997 2 191064591 [A/G] NM_001042521,NM_001042520,NM_001042519,NM_032321 C2orf88,C2orf88,C2orf88,C2orf88 EXON Missense_G2D,Missense_G2D,Missense_G2D,Missense_G2D exm252998 2 191064594 [C/G] NM_001042521,NM_001042520,NM_001042519,NM_032321 C2orf88,C2orf88,C2orf88,C2orf88 EXON Missense_C3S,Missense_C3S,Missense_C3S,Missense_C3S exm2236838 2 191064654 [A/G] NM_001042521,NM_001042520,NM_001042519,NM_032321 C2orf88,C2orf88,C2orf88,C2orf88 EXON Missense_E23G,Missense_E23G,Missense_E23G,Missense_E23G exm253003 2 191064753 [T/C] NM_001042521,NM_001042520,NM_001042519,NM_032321 C2orf88,C2orf88,C2orf88,C2orf88 EXON Missense_T56I,Missense_T56I,Missense_T56I,Missense_T56I exm253016 2 191077756 [A/G] NM_198047,NM_014362 HIBCH,HIBCH EXON Nonsense_Q313X,Nonsense_Q313X exm253021 2 191110879 [T/C] NM_198047,NM_014362 HIBCH,HIBCH Silent,Silent exm253025 2 191114381 [T/G] NM_198047,NM_014362 HIBCH,HIBCH EXON Missense_E245D,Missense_E245D exm253032 2 191125911 [C/G] NM_198047,NM_014362 HIBCH,HIBCH EXON Missense_C163S,Missense_C163S exm253045 2 191159338 [C/G] NM_198047,NM_014362 HIBCH,HIBCH EXON Missense_E80Q,Missense_E80Q exm253052 2 191161621 [A/G] NM_198047,NM_014362 HIBCH,HIBCH EXON Missense_T46M,Missense_T46M exm253053 2 191161622 [T/C] NM_198047,NM_014362 HIBCH,HIBCH EXON Missense_T46A,Missense_T46A exm253061 2 191184475 [A/G] NM_198047,NM_014362 HIBCH,HIBCH EXON Missense_M1T,Missense_M1T exm253070 2 191224845 [A/G] NM_001128928,NM_002194 INPP1,INPP1 EXON Missense_R6Q,Missense_R6Q exm1993187 2 191224880 [A/G] NM_001128928,NM_002194 INPP1,INPP1 EXON Missense_I18V,Missense_I18V exm253077 2 191225029 [A/C] NM_001128928,NM_002194 INPP1,INPP1 EXON Missense_N67K,Missense_N67K exm253101 2 191235610 [A/G] NM_001128928,NM_002194 INPP1,INPP1 EXON Missense_T228A,Missense_T228A exm253109 2 191235939 [G/C] NM_001128928,NM_002194 INPP1,INPP1 EXON Missense_C337W,Missense_C337W exm253111 2 191235991 [A/G] NM_001128928,NM_002194 INPP1,INPP1 EXON Missense_V355M,Missense_V355M exm-rs6707846 2 191286516 [A/C] NM_017694 MFSD6 Silent exm253121 2 191300916 [T/C] NM_017694 MFSD6 EXON Missense_I54T exm253124 2 191300949 [A/G] NM_017694 MFSD6 EXON Missense_N65S exm253133 2 191301245 [T/C] NM_017694 MFSD6 EXON Missense_R164C exm253137 2 191301293 [T/C] NM_017694 MFSD6 EXON Missense_P180S exm253142 2 191301368 [A/G] NM_017694 MFSD6 EXON Missense_R205G exm253144 2 191301461 [T/C] NM_017694 MFSD6 EXON Missense_R236C exm253149 2 191301549 [T/C] NM_017694 MFSD6 EXON Missense_T265I exm253172 2 191302049 [T/G] NM_017694 MFSD6 EXON Missense_A432S exm2269193 2 191305647 [T/C] NM_017694 MFSD6 Silent exm253201 2 191364828 [T/C] NM_017694 MFSD6 EXON Missense_P754S exm253202 2 191364840 [A/G] NM_017694 MFSD6 EXON Missense_A758T exm253206 2 191364898 [A/C] NM_017694 MFSD6 EXON Missense_E777A exm253218 2 191375177 [A/G] NM_001142645 TMEM194B EXON Missense_T347M exm253227 2 191383777 [T/C] NM_001142645 TMEM194B EXON Missense_E116K exm253236 2 191399378 [G/C] NM_001142645 TMEM194B EXON Missense_G2R exm253246 2 191524326 [C/G] NM_005966 NAB1 EXON Missense_G142R exm-rs10931468 2 191538562 [A/C] NM_005966 NAB1 Silent exm253277 2 191550364 [A/G] NM_005966 NAB1 EXON Missense_G420R exm-rs6705471 2 191634597 [T/C] exm253308 2 191775045 [A/C] NM_014905,NM_001256310 GLS,GLS EXON Missense_K346Q,Missense_K346Q exm253320 2 191792077 [T/G] NM_014905,NM_001256310 GLS,GLS EXON Missense_A432S,Missense_A432S exm253341 2 191827615 [T/C] NM_014905 GLS EXON Missense_I638T exm253343 2 191827663 [A/G] NM_014905 GLS EXON Missense_N654S exm253354 2 191839658 [A/C] NM_007315 STAT1 EXON Synonymous_V712V exm253363 2 191843583 [A/G] NM_007315,NM_139266 STAT1,STAT1 EXON Synonymous_G624G,Synonymous_G624G exm253381 2 191849042 [T/G] NM_007315,NM_139266 STAT1,STAT1 EXON Missense_D447E,Missense_D447E exm253414 2 191859935 [T/C] NM_007315,NM_139266 STAT1,STAT1 EXON Missense_V266I,Missense_V266I exm253415 2 191859938 [T/C] NM_007315,NM_139266 STAT1,STAT1 EXON Missense_I265V,Missense_I265V exm253417 2 191862645 [T/C] NM_007315,NM_139266 STAT1,STAT1 EXON Missense_R241Q,Missense_R241Q exm-rs3821236 2 191902758 [A/G] NM_003151,NM_001243835 STAT4,STAT4 Silent,Silent exm253469 2 191904022 [A/G] NM_003151,NM_001243835 STAT4,STAT4 EXON Missense_T446I,Missense_T446I exm253483 2 191927536 [A/G] NM_003151,NM_001243835 STAT4,STAT4 EXON Missense_T298I,Missense_T298I exm253487 2 191927624 [T/G] NM_003151,NM_001243835 STAT4,STAT4 EXON Missense_L269I,Missense_L269I exm253491 2 191929596 [T/C] NM_003151,NM_001243835 STAT4,STAT4 EXON Missense_R240Q,Missense_R240Q exm2265379 2 191940451 [A/G] NM_003151,NM_001243835 STAT4,STAT4 Silent,Silent exm253506 2 191940982 [T/C] NM_003151,NM_001243835 STAT4,STAT4 EXON Missense_I115V,Missense_I115V exm-rs7574865 2 191964633 [T/G] NM_003151,NM_001243835 STAT4,STAT4 Silent,Silent exm-rs4853575 2 192160875 [T/C] NM_012223,NM_001130158,NM_001161819 MYO1B,MYO1B,MYO1B EXON Synonymous_Y58Y,Synonymous_Y58Y,Synonymous_Y58Y exm253523 2 192160921 [A/G] NM_012223,NM_001130158,NM_001161819 MYO1B,MYO1B,MYO1B EXON Missense_N74D,Missense_N74D,Missense_N74D exm2236850 2 192214895 [A/G] NM_012223,NM_001130158,NM_001161819 MYO1B,MYO1B,MYO1B EXON Missense_Y169C,Missense_Y169C,Missense_Y169C exm253545 2 192227095 [T/C] NM_012223,NM_001130158,NM_001161819 MYO1B,MYO1B,MYO1B EXON Missense_R255W,Missense_R255W,Missense_R255W exm253551 2 192228907 [A/G] NM_012223,NM_001130158,NM_001161819 MYO1B,MYO1B,MYO1B EXON Missense_T313A,Missense_T313A,Missense_T313A exm2277209 2 192246226 [A/C] NM_012223,NM_001130158,NM_001161819 MYO1B,MYO1B,MYO1B EXON Missense_N408K,Missense_N408K,Missense_N408K exm253593 2 192256898 [A/T] NM_012223,NM_001130158,NM_001161819 MYO1B,MYO1B,MYO1B EXON Missense_S683T,Missense_S683T,Missense_S683T exm253595 2 192257809 [T/C] NM_012223,NM_001130158,NM_001161819 MYO1B,MYO1B,MYO1B EXON Missense_L696S,Missense_L696S,Missense_L696S exm2236852 2 192265177 [T/C] NM_012223,NM_001130158,NM_001161819 MYO1B,MYO1B,MYO1B EXON Missense_Y789H,Missense_Y789H,Missense_Y789H exm253612 2 192265184 [A/G] NM_012223,NM_001130158,NM_001161819 MYO1B,MYO1B,MYO1B EXON Missense_H791R,Missense_H791R,Missense_H791R exm253618 2 192267362 [A/G] NM_012223,NM_001130158,NM_001161819 MYO1B,MYO1B,MYO1B EXON Silent,Missense_R825Q,Missense_R825Q exm253620 2 192267391 [A/G] NM_012223,NM_001130158,NM_001161819 MYO1B,MYO1B,MYO1B EXON Silent,Missense_A835T,Missense_A835T exm253621 2 192267400 [A/G] NM_012223,NM_001130158,NM_001161819 MYO1B,MYO1B,MYO1B EXON Silent,Missense_K838E,Missense_K838E exm253629 2 192278815 [A/C] NM_012223,NM_001130158,NM_001161819 MYO1B,MYO1B,MYO1B EXON Missense_K914T,Missense_K972T,Missense_K972T exm253630 2 192278844 [T/G] NM_012223,NM_001130158,NM_001161819 MYO1B,MYO1B,MYO1B EXON Missense_A924S,Missense_A982S,Missense_A982S exm253638 2 192279339 [A/G] NM_012223,NM_001130158,NM_001161819 MYO1B,MYO1B,MYO1B EXON Missense_T977A,Missense_T1035A,Missense_T1035A exm2269194 2 192458747 [T/C] exm1993418 2 192543354 [A/G] NM_001254736,NR_045622,NM_001031716,NR_045623 NABP1,NABP1,NABP1,NABP1 EXON Silent,Silent,Missense_N5S,Silent exm253680 2 192550349 [A/G] NM_001254736,NR_045622,NM_001031716,NR_045623 NABP1,NABP1,NABP1,NABP1 EXON Missense_E77G,Silent,Missense_E157G,Silent exm253683 2 192550388 [A/G] NM_001254736,NR_045622,NM_001031716,NR_045623 NABP1,NABP1,NABP1,NABP1 EXON Missense_N90S,Silent,Missense_N170S,Silent exm253686 2 192550475 [A/G] NM_001254736,NR_045622,NM_001031716,NR_045623 NABP1,NABP1,NABP1,NABP1 EXON Missense_R119Q,Silent,Missense_R199Q,Silent exm2269195 2 192666864 [T/C] exm253691 2 192700735 [T/C] NM_004657 SDPR EXON Missense_S398G exm253701 2 192700912 [T/C] NM_004657 SDPR EXON Missense_E339K exm253702 2 192700918 [A/G] NM_004657 SDPR EXON Missense_H337Y exm253717 2 192701265 [T/C] NM_004657 SDPR EXON Missense_E221G exm253719 2 192701301 [T/G] NM_004657 SDPR EXON Missense_P209H exm253724 2 192701407 [G/C] NM_004657 SDPR EXON Missense_Q174E exm253732 2 192711244 [G/C] NM_004657 SDPR EXON Missense_C136W exm1993435 2 192711262 [G/C] NM_004657 SDPR EXON Missense_E130D exm253738 2 192711403 [C/G] NM_004657 SDPR EXON Missense_Q83H exm-rs10497721 2 192914362 [A/C] NM_016192 TMEFF2 Silent exm253773 2 192922499 [A/G] NM_016192 TMEFF2 EXON Missense_H148Y exm-rs13007495 2 192955505 [T/C] NM_016192 TMEFF2 Silent exm253790 2 193059157 [T/C] NM_016192 TMEFF2 EXON Missense_V32I exm2269356 2 193203397 [T/C] exm-rs1385351 2 193333903 [T/C] exm2269196 2 193388876 [T/C] exm-rs17662626 2 193984621 [A/G] exm2265380 2 194127291 [A/G] exm2269197 2 194189678 [T/C] exm2265253 2 194888500 [A/G] exm2269357 2 195344783 [T/C] exm2261142 2 195843011 [T/C] exm2269199 2 196288336 [T/C] exm253803 2 196544884 [T/C] NM_001127257,NM_020342 SLC39A10,SLC39A10 EXON Missense_H40Y,Missense_H40Y exm253809 2 196545025 [A/T] NM_001127257,NM_020342 SLC39A10,SLC39A10 EXON Missense_T87S,Missense_T87S exm253822 2 196545314 [A/G] NM_001127257,NM_020342 SLC39A10,SLC39A10 EXON Missense_R183H,Missense_R183H exm253823 2 196545348 [A/C] NM_001127257,NM_020342 SLC39A10,SLC39A10 EXON Missense_H194Q,Missense_H194Q exm253829 2 196545710 [A/G] NM_001127257,NM_020342 SLC39A10,SLC39A10 EXON Missense_H315R,Missense_H315R exm253830 2 196545727 [A/G] NM_001127257,NM_020342 SLC39A10,SLC39A10 EXON Missense_I321V,Missense_I321V exm253832 2 196545737 [T/G] NM_001127257,NM_020342 SLC39A10,SLC39A10 EXON Missense_L324W,Missense_L324W exm253842 2 196571341 [T/C] NM_001127257,NM_020342 SLC39A10,SLC39A10 EXON Synonymous_A406A,Synonymous_A406A exm2273848 2 196571445 [T/C] NM_001127257,NM_020342 SLC39A10,SLC39A10 EXON Missense_T441I,Missense_T441I exm253861 2 196581489 [T/C] NM_001127257,NM_020342 SLC39A10,SLC39A10 EXON Missense_H609Y,Missense_H609Y exm253881 2 196602679 [T/C] NM_018897 DNAH7 EXON Missense_R4014Q exm253884 2 196602773 [A/G] NM_018897 DNAH7 EXON Missense_R3983W exm253887 2 196602802 [T/C] NM_018897 DNAH7 EXON Missense_Y3973C exm253888 2 196602811 [T/C] NM_018897 DNAH7 EXON Missense_R3970Q exm253889 2 196602829 [T/C] NM_018897 DNAH7 EXON Missense_R3964K exm253890 2 196602849 [T/C] NM_018897 DNAH7 EXON Missense_M3957I exm253892 2 196605504 [G/C] NM_018897 DNAH7 EXON Missense_D3952H exm253897 2 196619078 [T/C] NM_018897 DNAH7 EXON Missense_K3916R exm253898 2 196619105 [T/C] NM_018897 DNAH7 EXON Missense_Y3907C exm2236857 2 196619148 [T/C] NM_018897 DNAH7 EXON Missense_A3893T exm253906 2 196620888 [T/C] NM_018897 DNAH7 EXON Missense_N3852S exm253907 2 196620966 [G/C] NM_018897 DNAH7 EXON Missense_S3826T exm253924 2 196636611 [A/G] NM_018897 DNAH7 EXON Missense_R3736C exm253933 2 196642597 [T/C] NM_018897 DNAH7 EXON Missense_N3664S exm253934 2 196642600 [T/A] NM_018897 DNAH7 EXON Missense_F3663Y exm253936 2 196642621 [T/C] NM_018897 DNAH7 EXON Missense_R3656H exm253946 2 196642687 [T/C] NM_018897 DNAH7 EXON Missense_R3634Q exm253947 2 196642694 [T/C] NM_018897 DNAH7 EXON Missense_A3632T exm2269200 2 196663997 [T/C] NM_018897 DNAH7 Silent exm253974 2 196664076 [T/C] NM_018897 DNAH7 EXON Missense_V3433M exm253979 2 196664154 [A/G] NM_018897 DNAH7 EXON Missense_R3407C exm253993 2 196673456 [T/C] NM_018897 DNAH7 EXON Missense_R3345G exm253996 2 196673504 [T/C] NM_018897 DNAH7 EXON Missense_D3329N exm253998 2 196673533 [A/G] NM_018897 DNAH7 EXON Missense_L3319P exm254000 2 196673569 [G/C] NM_018897 DNAH7 EXON Missense_T3307S exm254004 2 196674474 [A/G] NM_018897 DNAH7 EXON Missense_R3295W exm254016 2 196681502 [T/C] NM_018897 DNAH7 EXON Missense_R3204H exm2254873 2 196681546 [A/G] NM_018897 DNAH7 EXON Synonymous_A3189A exm254033 2 196682510 [T/C] NM_018897 DNAH7 EXON Missense_D3112G exm2236859 2 196682516 [A/C] NM_018897 DNAH7 EXON Missense_M3110R exm254040 2 196689136 [C/G] NM_018897 DNAH7 EXON Missense_P3045R exm1993552 2 196699007 [T/C] NM_018897 DNAH7 EXON Missense_N3008S exm254048 2 196709779 [A/C] NM_018897 DNAH7 EXON Missense_N2964K exm1993558 2 196718225 [A/G] NM_018897 DNAH7 EXON Nonsense_R2875X exm254064 2 196720647 [A/G] NM_018897 DNAH7 EXON Missense_M2828T exm254066 2 196720666 [T/C] NM_018897 DNAH7 EXON Missense_G2822R exm254075 2 196722180 [T/C] NM_018897 DNAH7 EXON Missense_V2779I exm254088 2 196723259 [A/C] NM_018897 DNAH7 EXON Missense_L2669R exm254091 2 196723434 [T/C] NM_018897 DNAH7 EXON Missense_A2611T exm254093 2 196723524 [T/C] NM_018897 DNAH7 EXON Missense_V2581I exm254094 2 196726465 [T/C] NM_018897 DNAH7 EXON Missense_K2571R exm254095 2 196726471 [A/G] NM_018897 DNAH7 EXON Missense_T2569I exm254096 2 196726484 [T/C] NM_018897 DNAH7 EXON Missense_E2565K exm254097 2 196726573 [T/C] NM_018897 DNAH7 EXON Missense_K2535R exm254100 2 196726589 [A/T] NM_018897 DNAH7 EXON Missense_C2530S exm254107 2 196728886 [A/G] NM_018897 DNAH7 EXON Missense_I2498T exm254114 2 196728946 [A/G] NM_018897 DNAH7 EXON Missense_I2478T exm254116 2 196728983 [A/G] NM_018897 DNAH7 EXON Missense_R2466C exm254117 2 196728988 [T/C] NM_018897 DNAH7 EXON Missense_H2464R exm254119 2 196729002 [C/G] NM_018897 DNAH7 EXON Missense_N2459K exm2236861 2 196729132 [A/G] NM_018897 DNAH7 EXON Missense_L2416P exm254137 2 196729378 [T/C] NM_018897 DNAH7 EXON Missense_R2334H exm254138 2 196729379 [A/G] NM_018897 DNAH7 EXON Missense_R2334C exm254140 2 196729430 [A/G] NM_018897 DNAH7 EXON Nonsense_R2317X exm254146 2 196729589 [A/C] NM_018897 DNAH7 EXON Missense_D2264Y exm254149 2 196729650 [T/G] NM_018897 DNAH7 EXON Missense_E2243D exm1993582 2 196737115 [T/C] NM_018897 DNAH7 EXON Missense_M2164I exm1993592 2 196740420 [T/C] NM_018897 DNAH7 EXON Missense_M2089V exm254169 2 196740524 [T/C] NM_018897 DNAH7 EXON Missense_Y2054C exm254174 2 196741326 [A/G] NM_018897 DNAH7 EXON Missense_M2020T exm254180 2 196746520 [A/G] NM_018897 DNAH7 EXON Missense_T1987M exm254183 2 196746611 [A/G] NM_018897 DNAH7 EXON Nonsense_R1957X exm254187 2 196749421 [T/C] NM_018897 DNAH7 EXON Missense_R1884Q exm254188 2 196749422 [A/G] NM_018897 DNAH7 EXON Nonsense_R1884X exm254189 2 196749452 [A/G] NM_018897 DNAH7 EXON Nonsense_R1874X exm254193 2 196749512 [T/C] NM_018897 DNAH7 EXON Missense_I1854V exm254198 2 196750887 [T/C] NM_018897 DNAH7 EXON Missense_R1839Q exm254199 2 196750888 [A/G] NM_018897 DNAH7 EXON Nonsense_R1839X exm254207 2 196753037 [T/C] NM_018897 DNAH7 EXON Missense_G1784D exm254215 2 196753534 [A/G] NM_018897 DNAH7 EXON Missense_S1740P exm254216 2 196753672 [C/G] NM_018897 DNAH7 EXON Missense_P1694A exm254222 2 196759737 [C/G] NM_018897 DNAH7 EXON Missense_R1620P exm254225 2 196759828 [T/C] NM_018897 DNAH7 EXON Missense_E1590K exm254229 2 196759927 [A/G] NM_018897 DNAH7 EXON Missense_P1557S exm254237 2 196765098 [A/G] NM_018897 DNAH7 EXON Missense_R1486C exm254242 2 196771409 [A/G] NM_018897 DNAH7 EXON Nonsense_R1437X exm254244 2 196771454 [T/G] NM_018897 DNAH7 EXON Missense_P1422T exm254262 2 196788366 [T/C] NM_018897 DNAH7 EXON Missense_D1260N exm254269 2 196788488 [T/C] NM_018897 DNAH7 EXON Missense_D1219G exm254271 2 196791161 [T/C] NM_018897 DNAH7 EXON Missense_M1201V exm254276 2 196791265 [T/C] NM_018897 DNAH7 EXON Missense_Y1166C exm254277 2 196791271 [A/G] NM_018897 DNAH7 EXON Missense_F1164S exm254284 2 196799394 [A/G] NM_018897 DNAH7 EXON Missense_I1131T exm254291 2 196801362 [A/T] NM_018897 DNAH7 EXON Missense_E1078V exm1993658 2 196801458 [G/C] NM_018897 DNAH7 EXON Missense_S1046C exm254298 2 196822004 [A/G] NM_018897 DNAH7 EXON Missense_I1020T exm254305 2 196825027 [T/C] NM_018897 DNAH7 EXON Missense_M950V exm254308 2 196825111 [A/G] NM_018897 DNAH7 EXON Missense_Y922H exm254315 2 196825238 [A/C] NM_018897 DNAH7 EXON Missense_M879I exm254320 2 196825359 [C/G] NM_018897 DNAH7 EXON Missense_P839R exm254322 2 196825402 [T/C] NM_018897 DNAH7 EXON Missense_K825E exm254328 2 196825536 [T/C] NM_018897 DNAH7 EXON Missense_Y780C exm254330 2 196825573 [A/G] NM_018897 DNAH7 EXON Missense_R768C exm254334 2 196825641 [A/G] NM_018897 DNAH7 EXON Missense_A745V exm254341 2 196834679 [T/G] NM_018897 DNAH7 EXON Missense_A733E exm254351 2 196837001 [T/C] NM_018897 DNAH7 EXON Missense_K675E exm254356 2 196837129 [G/C] NM_018897 DNAH7 EXON Missense_S632C exm254363 2 196851841 [T/C] NM_018897 DNAH7 EXON Missense_C568Y exm2273849 2 196851900 [T/C] NM_018897 DNAH7 EXON Missense_M548I exm1993679 2 196851910 [T/C] NM_018897 DNAH7 EXON Missense_R545H exm254366 2 196851911 [A/G] NM_018897 DNAH7 EXON Missense_R545C exm254367 2 196852767 [T/C] NM_018897 DNAH7 EXON Missense_A514T exm254368 2 196852787 [T/C] NM_018897 DNAH7 EXON Missense_R507Q exm254370 2 196852859 [T/A] NM_018897 DNAH7 EXON Missense_E483V exm254371 2 196852887 [T/C] NM_018897 DNAH7 EXON Missense_E474K exm254374 2 196852935 [T/C] NM_018897 DNAH7 EXON Missense_T458A exm254377 2 196865441 [A/G] NM_018897 DNAH7 EXON Missense_L447S exm254381 2 196865498 [T/C] NM_018897 DNAH7 EXON Missense_N428S exm254382 2 196865507 [A/G] NM_018897 DNAH7 EXON Missense_I425T exm254385 2 196865579 [A/C] NM_018897 DNAH7 EXON Missense_G401V exm2261143 2 196866420 [T/C] NM_018897 DNAH7 EXON Synonymous_T384T exm254393 2 196866425 [T/A] NM_018897 DNAH7 EXON Missense_F383I exm254394 2 196866433 [A/C] NM_018897 DNAH7 EXON Missense_M380R exm254396 2 196866439 [A/G] NM_018897 DNAH7 EXON Missense_V378A exm254398 2 196866468 [T/C] NM_018897 DNAH7 EXON Missense_M368I exm254405 2 196877535 [G/C] NM_018897 DNAH7 EXON Missense_S322C exm254406 2 196877557 [T/C] NM_018897 DNAH7 EXON Missense_I315V exm254407 2 196877562 [T/C] NM_018897 DNAH7 EXON Missense_Q313R exm254412 2 196883925 [T/C] NM_018897 DNAH7 EXON Missense_A280T exm254415 2 196883957 [A/T] NM_018897 DNAH7 EXON Missense_D269V exm254416 2 196889157 [A/C] NM_018897 DNAH7 EXON Missense_A247S exm254417 2 196889160 [A/G] NM_018897 DNAH7 EXON Missense_R246C exm254418 2 196889180 [A/G] NM_018897 DNAH7 EXON Missense_T239I exm254422 2 196891613 [T/C] NM_018897 DNAH7 EXON Missense_M180V exm254424 2 196892695 [T/C] NM_018897 DNAH7 EXON Missense_K159E exm254425 2 196892701 [T/C] NM_018897 DNAH7 EXON Missense_I157V exm254426 2 196892715 [A/G] NM_018897 DNAH7 EXON Missense_P152L exm254428 2 196892746 [T/C] NM_018897 DNAH7 EXON Missense_A142T exm254429 2 196892763 [T/C] NM_018897 DNAH7 EXON Missense_D136G exm2236864 2 196912113 [A/G] NM_018897 DNAH7 EXON Nonsense_R121X exm254441 2 196912179 [C/G] NM_018897 DNAH7 EXON Missense_Q99E exm254444 2 196913082 [A/C] NM_018897 DNAH7 EXON Missense_L63W exm254455 2 196922836 [T/A] NM_018897 DNAH7 EXON Missense_K7I exm254467 2 197002290 [A/G] NM_004226 STK17B EXON Missense_C334R exm254468 2 197002331 [A/G] NM_004226 STK17B EXON Missense_S320F exm2269201 2 197078453 [T/C] NM_020760 HECW2 Silent exm254513 2 197085631 [T/C] NM_020760 HECW2 EXON Missense_N1394S exm254567 2 197171262 [T/C] NM_020760 HECW2 EXON Missense_V922M exm254568 2 197171321 [T/C] NM_020760 HECW2 EXON Missense_N902S exm254596 2 197183374 [A/G] NM_020760 HECW2 EXON Missense_A747V exm254606 2 197183524 [A/G] NM_020760 HECW2 EXON Missense_S697L exm2254876 2 197183877 [A/G] NM_020760 HECW2 EXON Synonymous_G579G exm254626 2 197183877 [A/G] NM_020760 HECW2 EXON Synonymous_G579G exm254627 2 197183897 [T/C] NM_020760 HECW2 EXON Missense_V573I exm254632 2 197184026 [A/G] NM_020760 HECW2 EXON Missense_P530S exm254639 2 197184190 [T/G] NM_020760 HECW2 EXON Missense_D475A exm254642 2 197184332 [A/G] NM_020760 HECW2 EXON Missense_H428Y exm254645 2 197184364 [T/C] NM_020760 HECW2 EXON Missense_N417S exm254646 2 197184397 [A/G] NM_020760 HECW2 EXON Missense_T406I exm1993761 2 197184538 [T/C] NM_020760 HECW2 EXON Missense_G359E exm254666 2 197194337 [T/C] NM_020760 HECW2 EXON Missense_N178S exm254675 2 197208381 [A/G] NM_020760 HECW2 EXON Missense_P134S exm254678 2 197208434 [A/G] NM_020760 HECW2 EXON Missense_T116I exm254690 2 197298051 [T/C] NM_020760 HECW2 EXON Missense_A33T exm2261144 2 197404714 [A/G] NM_020760 HECW2 Silent exm254699 2 197511096 [T/C] NM_001080539 CCDC150 EXON Missense_V15A exm254701 2 197511105 [T/C] NM_001080539 CCDC150 EXON Missense_P18L exm254710 2 197521487 [T/C] NM_001080539 CCDC150 EXON Nonsense_R103X exm254716 2 197521750 [A/G] NM_001080539 CCDC150 EXON Missense_E156K exm254721 2 197521829 [A/C] NM_001080539 CCDC150 EXON Missense_T182N exm254729 2 197523583 [A/C] NM_001080539 CCDC150 EXON Missense_E215A exm254731 2 197530342 [T/G] NM_001080539 CCDC150 EXON Missense_S233A exm254732 2 197530367 [T/C] NM_001080539 CCDC150 EXON Missense_I241T exm254737 2 197531494 [A/G] NM_001080539 CCDC150 EXON Missense_A272T exm254741 2 197537115 [T/G] NM_001080539 CCDC150 EXON Missense_L328W exm254744 2 197539008 [A/G] NM_001080539 CCDC150 EXON Missense_C358Y exm1993798 2 197539028 [A/G] NM_001080539 CCDC150 EXON Missense_M365V exm254750 2 197540913 [T/C] NM_001080539 CCDC150 EXON Missense_L395S exm254751 2 197540921 [A/G] NM_001080539 CCDC150 EXON Missense_A398T exm254753 2 197540939 [A/G] NM_001080539 CCDC150 EXON Missense_T404A exm254758 2 197541314 [T/G] NM_001080539 CCDC150 EXON Missense_Q433H exm254763 2 197541421 [T/C] NM_001080539 CCDC150 EXON Missense_S469F exm254769 2 197559839 [A/C] NM_001080539 CCDC150 EXON Missense_M527L exm254771 2 197565881 [A/G] NM_001080539,NR_034036 CCDC150,LOC100130452 EXON Missense_A558T,Silent exm254773 2 197565893 [A/G] NM_001080539,NR_034036 CCDC150,LOC100130452 EXON Missense_G562R,Silent exm254779 2 197576939 [A/G] NM_001080539,NR_034036 CCDC150,LOC100130452 EXON Missense_R589H,Silent exm254786 2 197583233 [A/T] NM_001080539 CCDC150 EXON Missense_S625T exm254793 2 197584237 [A/G] NM_001080539 CCDC150 EXON Missense_R671Q exm1993818 2 197584335 [A/G] NM_001080539 CCDC150 EXON Missense_V704I exm254798 2 197585299 [A/G] NM_001080539 CCDC150 EXON Synonymous_R722R exm254805 2 197586271 [A/G] NM_001080539 CCDC150 EXON Missense_G762D exm254812 2 197593965 [T/C] NM_001080539 CCDC150 EXON Missense_R869W exm2254878 2 197594546 [A/G] NM_001080539 CCDC150 EXON Synonymous_E927E exm254819 2 197594714 [A/G] NM_001080539 CCDC150 EXON Missense_T952A exm254825 2 197594834 [T/C] NM_001080539 CCDC150 EXON Missense_R992W exm1993830 2 197595644 [A/G] NM_001080539 CCDC150 EXON Missense_K1015R exm254831 2 197596785 [A/G] NM_001080539 CCDC150 EXON Missense_R1033H exm254835 2 197597248 [A/G] NM_001080539 CCDC150 EXON Missense_M1090V exm2269202 2 197626466 [T/C] exm254871 2 197641171 [T/C] NM_012086 GTF3C3 EXON Missense_D525N exm254884 2 197645376 [A/C] NM_012086,NM_001206774 GTF3C3,GTF3C3 EXON Missense_N375K,Missense_N375K exm1993854 2 197653962 [T/C] NM_012086,NM_001206774 GTF3C3,GTF3C3 EXON Missense_E287K,Missense_E287K exm254904 2 197656121 [A/G] NM_012086,NM_001206774 GTF3C3,GTF3C3 EXON Missense_R159C,Missense_R159C exm254915 2 197662526 [T/C] NM_012086,NM_001206774 GTF3C3,GTF3C3 EXON Missense_N70S,Missense_N70S exm254938 2 197705993 [A/G] NM_024989 PGAP1 EXON Missense_P912S exm254942 2 197706080 [T/C] NM_024989 PGAP1 EXON Missense_T883A exm1993875 2 197708670 [G/C] NM_024989 PGAP1 EXON Missense_L823V exm254955 2 197708762 [T/C] NM_024989 PGAP1 EXON Missense_N792S exm254958 2 197709298 [T/C] NM_024989 PGAP1 EXON Missense_V763I exm254969 2 197711869 [T/C] NM_024989 PGAP1 EXON Missense_V670I exm254972 2 197711924 [T/C] NM_024989 PGAP1 EXON Synonymous_G651G exm254975 2 197712747 [A/G] NM_024989 PGAP1 EXON Missense_Y626H exm254984 2 197735679 [C/G] NM_024989 PGAP1 EXON Missense_Q585E exm254995 2 197737745 [T/C] NM_024989 PGAP1 EXON Missense_I520V exm255001 2 197738413 [T/C] NM_024989 PGAP1 EXON Missense_G499E exm255002 2 197738434 [T/C] NM_024989 PGAP1 EXON Missense_N492S exm255043 2 197781288 [T/C] NM_024989 PGAP1 EXON Missense_K111E exm255045 2 197784771 [A/G] NM_024989 PGAP1 EXON Missense_T84M exm255047 2 197784835 [T/C] NM_024989 PGAP1 EXON Missense_A63T exm255084 2 197870580 [T/C] NM_001195144 ANKRD44 EXON Missense_I729V exm255095 2 197873693 [C/G] NM_001195144 ANKRD44 EXON Missense_V663L exm1993937 2 197878306 [A/G] NM_001195144 ANKRD44 EXON Missense_A618V exm255118 2 197943489 [T/G] NM_001195144 ANKRD44 EXON Missense_K530Q exm255122 2 197948105 [T/C] NM_001195144 ANKRD44 EXON Missense_D482G exm255131 2 197954676 [A/G] NM_001195144 ANKRD44 EXON Missense_S394L exm255142 2 197986178 [T/C] NM_001195144,NM_153697 ANKRD44,ANKRD44 EXON Missense_G262S,Missense_G262S exm255151 2 197987510 [A/G] NM_001195144,NM_153697 ANKRD44,ANKRD44 EXON Missense_L186S,Missense_L186S exm255160 2 197990741 [A/C] NM_001195144,NM_153697 ANKRD44,ANKRD44 EXON Missense_I94M,Missense_I94M exm255172 2 198051784 [T/C] NM_001195144,NM_153697 ANKRD44,ANKRD44 EXON Missense_R25Q,Missense_R25Q exm2265382 2 198143381 [A/G] NM_001195144,NM_153697 ANKRD44,ANKRD44 Silent,Silent exm2269203 2 198166825 [T/C] NM_001195144,NM_153697 ANKRD44,ANKRD44 Silent,Silent exm255245 2 198274610 [A/G] NM_012433 SF3B1 EXON Missense_A263V exm255255 2 198283669 [T/C] NM_012433,NM_001005526 SF3B1,SF3B1 EXON Silent,Missense_Y141C exm255303 2 198338605 [A/G] NM_025147 COQ10B EXON Missense_N225S exm255315 2 198352722 [T/C] NM_002156,NM_199440 HSPD1,HSPD1 EXON Missense_M477V,Missense_M477V exm2254883 2 198359384 [T/C] NM_002156,NM_199440 HSPD1,HSPD1 EXON Synonymous_V201V,Synonymous_V201V exm255339 2 198359436 [T/C] NM_002156,NM_199440 HSPD1,HSPD1 EXON Missense_N184S,Missense_N184S exm255344 2 198361866 [T/C] NM_002156,NM_199440 HSPD1,HSPD1 EXON Missense_R142K,Missense_R142K exm255359 2 198363406 [T/C] NM_002156,NM_199440 HSPD1,HSPD1 EXON Missense_G56E,Missense_G56E exm255361 2 198363437 [A/G] NM_002156,NM_199440 HSPD1,HSPD1 EXON Missense_L46F,Missense_L46F exm255407 2 198380863 [A/T] NM_001202485,NM_199482,NM_015387,NM_001100819 HSPE1-MOB4,MOB4,MOB4,MOB4 EXON Silent,Silent,Missense_K18M,Missense_K18M exm255429 2 198436771 [A/C] NM_144629 RFTN2 EXON Missense_F489L exm255431 2 198436782 [T/C] NM_144629 RFTN2 EXON Missense_D486N exm255433 2 198436794 [A/G] NM_144629 RFTN2 EXON Missense_R482W exm255437 2 198436886 [T/C] NM_144629 RFTN2 EXON Missense_R451H exm255438 2 198436887 [A/G] NM_144629 RFTN2 EXON Missense_R451C exm255440 2 198436926 [A/G] NM_144629 RFTN2 EXON Missense_S438P exm255446 2 198480625 [G/C] NM_144629 RFTN2 EXON Missense_P377A exm255448 2 198480675 [A/G] NM_144629 RFTN2 EXON Missense_P360L exm255453 2 198482574 [T/G] NM_144629 RFTN2 EXON Missense_S334R exm255456 2 198495767 [A/G] NM_144629 RFTN2 EXON Missense_I299T exm255464 2 198498566 [A/C] NM_144629 RFTN2 EXON Missense_N198K exm255465 2 198498573 [G/C] NM_144629 RFTN2 EXON Missense_S196T exm255467 2 198498595 [T/C] NM_144629 RFTN2 EXON Missense_G189S exm2265254 2 198511086 [A/G] NM_144629 RFTN2 Silent exm255474 2 198511213 [T/C] NM_144629 RFTN2 EXON Missense_K106R exm255496 2 198570172 [A/G] NM_138395 MARS2 EXON Missense_A15T exm255498 2 198570190 [G/C] NM_138395 MARS2 EXON Missense_L21V exm1994103 2 198570253 [A/G] NM_138395 MARS2 EXON Missense_D42N exm255509 2 198570328 [G/C] NM_138395 MARS2 EXON Missense_L67V exm255531 2 198570850 [A/G] NM_138395 MARS2 EXON Missense_V241I exm255543 2 198571223 [A/G] NM_138395 MARS2 EXON Missense_Y365C exm255549 2 198571370 [T/G] NM_138395 MARS2 EXON Missense_R414I exm255553 2 198571486 [T/G] NM_138395 MARS2 EXON Missense_V453L exm255563 2 198571850 [T/G] NM_138395 MARS2 EXON Missense_G574V exm255584 2 198631281 [T/A] NM_033030,NM_197970 BOLL,BOLL EXON Missense_Y176F,Missense_Y188F exm-rs700651 2 198631714 [A/G] NM_033030,NM_197970 BOLL,BOLL Silent,Silent exm255599 2 198646549 [T/G] NM_033030,NM_197970 BOLL,BOLL EXON Missense_S9Y,Missense_S21Y exm-rs6738825 2 198896895 [A/G] NM_006226 PLCL1 Silent exm2265255 2 198921201 [A/G] NM_006226 PLCL1 Silent exm255611 2 198948717 [A/G] NM_006226 PLCL1 EXON Missense_D159G exm255623 2 198949061 [A/G] NM_006226 PLCL1 EXON Missense_T274A exm255624 2 198949074 [T/C] NM_006226 PLCL1 EXON Missense_A278V exm255630 2 198949344 [A/G] NM_006226 PLCL1 EXON Missense_Q368R exm1994152 2 198949769 [A/G] NM_006226 PLCL1 EXON Missense_V510I exm255650 2 198949980 [A/G] NM_006226 PLCL1 EXON Missense_R580Q exm255651 2 198949994 [T/C] NM_006226 PLCL1 EXON Missense_L585F exm255657 2 198950051 [A/G] NM_006226 PLCL1 EXON Missense_M604V exm255662 2 198950240 [A/G] NM_006226 PLCL1 EXON Missense_V667I exm255666 2 198950293 [T/G] NM_006226 PLCL1 EXON Missense_W684C exm255670 2 198950517 [T/C] NM_006226 PLCL1 EXON Missense_A759V exm255674 2 198950709 [A/T] NM_006226 PLCL1 EXON Missense_Y823F exm-rs7595412 2 198962243 [A/G] NM_006226 PLCL1 Silent exm-rs988583 2 198987935 [A/C] NM_006226 PLCL1 Silent exm255700 2 199011532 [A/G] NM_006226 PLCL1 EXON Missense_K1045R exm255703 2 199011631 [A/G] NM_006226 PLCL1 EXON Missense_R1078H exm2265256 2 199617622 [A/G] exm-rs12617311 2 199632565 [A/G] exm2269204 2 200015428 [T/G] exm2269360 2 200142847 [T/C] NM_001172509,NM_001172517,NM_015265 SATB2,SATB2,SATB2 Silent,Silent,Silent exm255754 2 200213810 [A/G] NM_001172509,NM_001172517,NM_015265 SATB2,SATB2,SATB2 EXON Missense_S263P,Missense_S263P,Missense_S263P exm-rs1992950 2 200290359 [A/G] NM_001172509,NM_001172517,NM_015265 SATB2,SATB2,SATB2 Silent,Silent,Silent exm255773 2 200298197 [A/G] NM_001172509,NM_001172517,NM_015265 SATB2,SATB2,SATB2 EXON Synonymous_D70D,Synonymous_D70D,Synonymous_D70D exm2261149 2 200634917 [A/C] NR_034096 FONG Silent exm-rs7605378 2 200676926 [A/C] NR_034096 FONG Silent exm255791 2 200789804 [T/C] NM_153689 C2orf69 EXON Missense_T118I exm255794 2 200789858 [C/G] NM_153689 C2orf69 EXON Missense_T136S exm255797 2 200789964 [A/G] NM_153689 C2orf69 EXON Missense_M171I exm255799 2 200789984 [A/G] NM_153689 C2orf69 EXON Missense_N178S exm255800 2 200790050 [A/G] NM_153689 C2orf69 EXON Missense_N200S exm255811 2 200790461 [A/G] NM_153689 C2orf69 EXON Missense_R337H exm255814 2 200790566 [T/C] NM_153689 C2orf69 EXON Missense_A372V exm255816 2 200797806 [T/C] NR_004862,NM_001039693 TYW5,TYW5 EXON Silent,Missense_S311N exm255823 2 200797965 [T/C] NR_004862,NM_001039693 TYW5,TYW5 EXON Silent,Missense_Y258C exm255833 2 200803789 [A/C] NR_004862,NM_001039693 TYW5,TYW5 EXON Silent,Missense_V118G exm255841 2 200813126 [T/C] NR_004862,NM_001039693 TYW5,TYW5 EXON Silent,Missense_S50G exm255852 2 200820546 [T/C] NM_024520 C2orf47 EXON Missense_P9S exm255867 2 200820828 [T/C] NM_024520 C2orf47 EXON Nonsense_Q103X exm255868 2 200820862 [T/G] NM_024520 C2orf47 EXON Missense_G114V exm255873 2 200824505 [T/C] NM_024520 C2orf47 EXON Missense_T184I exm255885 2 200828526 [A/T] NM_024520 C2orf47 EXON Missense_L290I exm-rs1569175 2 201021954 [T/C] exm2269205 2 201086663 [T/G] exm-rs12612420 2 201158122 [A/G] exm255904 2 201284090 [A/G] NM_015535,NM_001100424,NM_001100422,NM_001100423 SPATS2L,SPATS2L,SPATS2L,SPATS2L EXON Missense_G106S,Missense_G106S,Missense_G106S,Missense_G106S exm255906 2 201303848 [A/G] NM_015535,NM_001100424,NM_001100422,NM_001100423 SPATS2L,SPATS2L,SPATS2L,SPATS2L EXON Missense_G150D,Silent,Missense_G150D,Missense_G150D exm255911 2 201304004 [A/C] NM_015535,NM_001100424,NM_001100422,NM_001100423 SPATS2L,SPATS2L,SPATS2L,SPATS2L EXON Missense_P202H,Silent,Missense_P202H,Missense_P202H exm255921 2 201334686 [A/G] NM_015535,NM_001100424,NM_001100422,NM_001100423 SPATS2L,SPATS2L,SPATS2L,SPATS2L EXON Missense_R336Q,Missense_R267Q,Missense_R336Q,Missense_R336Q exm255923 2 201334715 [A/G] NM_015535,NM_001100424,NM_001100422,NM_001100423 SPATS2L,SPATS2L,SPATS2L,SPATS2L EXON Missense_A346T,Missense_A277T,Missense_A346T,Missense_A346T exm255924 2 201334719 [A/G] NM_015535,NM_001100424,NM_001100422,NM_001100423 SPATS2L,SPATS2L,SPATS2L,SPATS2L EXON Missense_Q347R,Missense_Q278R,Missense_Q347R,Missense_Q347R exm255927 2 201337629 [T/G] NM_015535,NM_001100424,NM_001100422,NM_001100423 SPATS2L,SPATS2L,SPATS2L,SPATS2L EXON Missense_A379S,Missense_A310S,Missense_A379S,Missense_A379S exm255931 2 201337737 [A/G] NM_015535,NM_001100424,NM_001100422,NM_001100423 SPATS2L,SPATS2L,SPATS2L,SPATS2L EXON Missense_A415T,Missense_A346T,Missense_A415T,Missense_A415T exm255936 2 201342484 [C/G] NM_015535,NM_001100424,NM_001100422,NM_001100423 SPATS2L,SPATS2L,SPATS2L,SPATS2L EXON Missense_H469Q,Missense_H400Q,Missense_H469Q,Missense_H469Q exm255949 2 201354866 [A/G] NM_152387 KCTD18 EXON Missense_A413V exm255952 2 201354935 [G/C] NM_152387 KCTD18 EXON Missense_C390S exm255954 2 201354948 [T/C] NM_152387 KCTD18 EXON Missense_A386T exm255957 2 201354965 [T/C] NM_152387 KCTD18 EXON Missense_K380R exm255961 2 201355058 [C/G] NM_152387 KCTD18 EXON Missense_A349G exm255962 2 201355098 [A/C] NM_152387 KCTD18 EXON Missense_G336C exm255964 2 201355106 [A/G] NM_152387 KCTD18 EXON Missense_A333V exm255969 2 201355215 [A/C] NM_152387 KCTD18 EXON Missense_V297L exm255973 2 201355316 [A/G] NM_152387 KCTD18 EXON Missense_A263V exm255980 2 201357979 [A/C] NM_152387 KCTD18 EXON Missense_V227G exm255984 2 201363666 [T/C] NM_152387 KCTD18 EXON Missense_A172T exm255986 2 201363740 [T/C] NM_152387 KCTD18 EXON Missense_Y147C exm255996 2 201369643 [T/C] NM_152387 KCTD18 EXON Missense_Y67C exm256000 2 201369665 [A/G] NM_152387 KCTD18 EXON Missense_R60C exm256003 2 201371619 [T/C] NM_152387 KCTD18 EXON Missense_M41V exm256005 2 201371715 [T/C] NM_152387 KCTD18 EXON Missense_E9K exm256010 2 201397724 [A/G] NM_152524,NM_001160033,NM_001160046 SGOL2,SGOL2,SGOL2 EXON Missense_G9D,Missense_G9D,Missense_G9D exm256021 2 201407372 [A/G] NM_152524,NM_001160033,NM_001160046 SGOL2,SGOL2,SGOL2 EXON Missense_R153H,Missense_R153H,Missense_R153H exm256025 2 201434409 [A/G] NM_152524,NM_001160033,NM_001160046 SGOL2,SGOL2,SGOL2 EXON Missense_D166G,Missense_D166G,Missense_D166G exm256030 2 201434523 [T/C] NM_152524,NM_001160033,NM_001160046 SGOL2,SGOL2,SGOL2 EXON Missense_S204L,Missense_S204L,Missense_S204L exm2236892 2 201434558 [A/G] NM_152524,NM_001160033,NM_001160046 SGOL2,SGOL2,SGOL2 EXON Missense_V216I,Missense_V216I,Missense_V216I exm256033 2 201435818 [A/G] NM_152524,NM_001160033,NM_001160046 SGOL2,SGOL2,SGOL2 EXON Missense_S250N,Missense_S250N,Missense_S250N exm256034 2 201435827 [A/G] NM_152524,NM_001160033,NM_001160046 SGOL2,SGOL2,SGOL2 EXON Missense_R253K,Missense_R253K,Missense_R253K exm256035 2 201435841 [A/G] NM_152524,NM_001160033,NM_001160046 SGOL2,SGOL2,SGOL2 EXON Missense_I258V,Missense_I258V,Missense_I258V exm256039 2 201435896 [A/G] NM_152524,NM_001160033,NM_001160046 SGOL2,SGOL2,SGOL2 EXON Missense_R276H,Missense_R276H,Missense_R276H exm256042 2 201435989 [A/G] NM_152524,NM_001160033,NM_001160046 SGOL2,SGOL2,SGOL2 EXON Missense_C307Y,Missense_C307Y,Missense_C307Y exm256044 2 201436001 [T/C] NM_152524,NM_001160033,NM_001160046 SGOL2,SGOL2,SGOL2 EXON Missense_I311T,Missense_I311T,Missense_I311T exm256045 2 201436015 [A/G] NM_152524,NM_001160033,NM_001160046 SGOL2,SGOL2,SGOL2 EXON Missense_N316D,Missense_N316D,Missense_N316D exm256047 2 201436078 [T/G] NM_152524,NM_001160033,NM_001160046 SGOL2,SGOL2,SGOL2 EXON Missense_A337S,Missense_A337S,Missense_A337S exm256050 2 201436098 [T/G] NM_152524,NM_001160033,NM_001160046 SGOL2,SGOL2,SGOL2 EXON Missense_E343D,Missense_E343D,Missense_E343D exm256052 2 201436124 [A/G] NM_152524,NM_001160033,NM_001160046 SGOL2,SGOL2,SGOL2 EXON Missense_D352G,Missense_D352G,Missense_D352G exm256056 2 201436154 [A/C] NM_152524,NM_001160033,NM_001160046 SGOL2,SGOL2,SGOL2 EXON Missense_D362A,Missense_D362A,Missense_D362A exm2236894 2 201436279 [T/C] NM_152524,NM_001160033,NM_001160046 SGOL2,SGOL2,SGOL2 EXON Missense_S404P,Missense_S404P,Missense_S404P exm256062 2 201436325 [A/T] NM_152524,NM_001160033,NM_001160046 SGOL2,SGOL2,SGOL2 EXON Missense_N419I,Missense_N419I,Missense_N419I exm256070 2 201436555 [A/G] NM_152524,NM_001160033,NM_001160046 SGOL2,SGOL2,SGOL2 EXON Missense_I496V,Missense_I496V,Missense_I496V exm256071 2 201436640 [A/G] NM_152524,NM_001160033,NM_001160046 SGOL2,SGOL2,SGOL2 EXON Missense_N524S,Missense_N524S,Missense_N524S exm256076 2 201436829 [A/G] NM_152524,NM_001160033,NM_001160046 SGOL2,SGOL2,SGOL2 EXON Missense_H587R,Missense_H587R,Missense_H587R exm256078 2 201436870 [T/C] NM_152524,NM_001160033,NM_001160046 SGOL2,SGOL2,SGOL2 EXON Missense_P601S,Missense_P601S,Missense_P601S exm256083 2 201437048 [A/G] NM_152524,NM_001160033,NM_001160046 SGOL2,SGOL2,SGOL2 EXON Missense_N660S,Missense_N660S,Missense_N660S exm256091 2 201437271 [T/G] NM_152524,NM_001160033,NM_001160046 SGOL2,SGOL2,SGOL2 EXON Missense_S734R,Missense_S734R,Missense_S734R exm1994323 2 201437335 [A/G] NM_152524,NM_001160033,NM_001160046 SGOL2,SGOL2,SGOL2 EXON Missense_G756R,Missense_G756R,Missense_G756R exm256100 2 201437486 [A/T] NM_152524,NM_001160033,NM_001160046 SGOL2,SGOL2,SGOL2 EXON Missense_K806M,Missense_K806M,Missense_K806M exm256101 2 201437507 [A/G] NM_152524,NM_001160033,NM_001160046 SGOL2,SGOL2,SGOL2 EXON Missense_C813Y,Missense_C813Y,Missense_C813Y exm256102 2 201437550 [G/C] NM_152524,NM_001160033,NM_001160046 SGOL2,SGOL2,SGOL2 EXON Missense_E827D,Missense_E827D,Missense_E827D exm256110 2 201437817 [A/G] NM_152524,NM_001160033,NM_001160046 SGOL2,SGOL2,SGOL2 EXON Missense_I916M,Missense_I916M,Missense_I916M exm256111 2 201437828 [T/C] NM_152524,NM_001160033,NM_001160046 SGOL2,SGOL2,SGOL2 EXON Missense_M920T,Missense_M920T,Missense_M920T exm256115 2 201437954 [A/G] NM_152524,NM_001160033,NM_001160046 SGOL2,SGOL2,SGOL2 EXON Missense_Y962C,Missense_Y962C,Missense_Y962C exm256119 2 201438086 [T/C] NM_152524,NM_001160033,NM_001160046 SGOL2,SGOL2,SGOL2 EXON Missense_A1006V,Missense_A1006V,Missense_A1006V exm256120 2 201438089 [T/C] NM_152524,NM_001160033,NM_001160046 SGOL2,SGOL2,SGOL2 EXON Missense_S1007L,Missense_S1007L,Missense_S1007L exm256125 2 201438143 [A/C] NM_152524,NM_001160033,NM_001160046 SGOL2,SGOL2,SGOL2 EXON Missense_H1025P,Missense_H1025P,Missense_H1025P exm256126 2 201438149 [T/C] NM_152524,NM_001160033,NM_001160046 SGOL2,SGOL2,SGOL2 EXON Missense_T1027I,Missense_T1027I,Missense_T1027I exm256129 2 201438266 [A/G] NM_152524,NM_001160033,NM_001160046 SGOL2,SGOL2,SGOL2 EXON Missense_E1066G,Missense_E1066G,Missense_E1066G exm256131 2 201438365 [T/C] NM_152524,NM_001160033,NM_001160046 SGOL2,SGOL2,SGOL2 EXON Missense_I1099T,Missense_I1099T,Missense_I1099T exm256133 2 201438376 [A/G] NM_152524,NM_001160033,NM_001160046 SGOL2,SGOL2,SGOL2 EXON Missense_V1103I,Missense_V1103I,Missense_V1103I exm256137 2 201438497 [A/G] NM_152524,NM_001160033,NM_001160046 SGOL2,SGOL2,SGOL2 EXON Missense_H1143R,Missense_H1143R,Missense_H1143R exm256139 2 201438568 [A/G] NM_152524,NM_001160033,NM_001160046 SGOL2,SGOL2,SGOL2 EXON Missense_G1167S,Missense_G1167S,Missense_G1167S exm256146 2 201440070 [T/C] NM_152524,NM_001160033,NM_001160046 SGOL2,SGOL2,SGOL2 EXON Missense_F1223S,Synonymous_L1221L,Missense_F1223S exm256147 2 201440089 [T/C] NM_152524,NM_001160033,NM_001160046 SGOL2,SGOL2,SGOL2 EXON Synonymous_A1229A,Missense_L1227P,Synonymous_A1229A exm256202 2 201473740 [A/G] NM_001159 AOX1 EXON Missense_Q314R exm256214 2 201477354 [A/G] NM_001159 AOX1 EXON Missense_R429Q exm256223 2 201478527 [A/G] NM_001159 AOX1 EXON Synonymous_R483R exm256224 2 201478537 [A/G] NM_001159 AOX1 EXON Missense_E487K exm256225 2 201478545 [A/G] NM_001159 AOX1 EXON Missense_M489I exm256226 2 201478556 [C/G] NM_001159 AOX1 EXON Missense_A493G exm256251 2 201485943 [A/G] NM_001159 AOX1 EXON Missense_A659T exm256254 2 201488606 [T/C] NM_001159 AOX1 EXON Missense_V675A exm2236898 2 201499556 [T/C] NM_001159 AOX1 EXON Missense_T755I exm256275 2 201499577 [T/C] NM_001159 AOX1 EXON Missense_P762L exm256282 2 201501691 [T/C] NM_001159 AOX1 EXON Missense_R802C exm256287 2 201501730 [A/G] NM_001159 AOX1 EXON Missense_G815R exm256295 2 201503018 [A/G] NM_001159 AOX1 EXON Missense_K854R exm256298 2 201505884 [T/G] NM_001159 AOX1 EXON Missense_A878S exm256304 2 201507394 [A/G] NM_001159 AOX1 EXON Missense_R906Q exm256308 2 201507474 [A/G] NM_001159 AOX1 EXON Missense_E933K exm256311 2 201515701 [A/G] NM_001159 AOX1 EXON Missense_R951Q exm256313 2 201515745 [T/C] NM_001159 AOX1 EXON Nonsense_Q966X exm256333 2 201524720 [A/T] NM_001159 AOX1 EXON Missense_D1101E exm256334 2 201524748 [A/G] NM_001159 AOX1 EXON Missense_E1111K exm256336 2 201526330 [A/G] NM_001159 AOX1 EXON Missense_N1135S exm256340 2 201527618 [A/C] NM_001159 AOX1 EXON Missense_Q1157K exm256341 2 201527627 [A/G] NM_001159 AOX1 EXON Missense_E1160K exm256363 2 201534311 [T/C] NM_001159 AOX1 EXON Missense_S1271L exm256370 2 201534389 [A/G] NM_001159 AOX1 EXON Missense_H1297R exm2265258 2 201540533 [A/G] exm2265384 2 201560331 [A/G] exm256379 2 201680411 [A/G] NM_001207067,NM_014670,NM_001207069,NM_001207068 BZW1,BZW1,BZW1,BZW1 EXON Missense_D88G,Missense_D88G,Missense_D92G,Missense_D120G exm256380 2 201680418 [C/G] NM_001207067,NM_014670,NM_001207069,NM_001207068 BZW1,BZW1,BZW1,BZW1 EXON Missense_M90I,Missense_M90I,Missense_M94I,Missense_M122I exm256411 2 201718139 [A/G] NR_027856,NM_004071,NM_001162407,NR_027855 CLK1,CLK1,CLK1,CLK1 EXON Silent,Missense_R449C,Missense_R491C,Silent exm256449 2 201725968 [A/G] NR_027856,NM_004071,NM_001162407,NR_027855 CLK1,CLK1,CLK1,CLK1 EXON Silent,Missense_S128L,Missense_S170L,Silent exm256451 2 201726049 [A/C] NR_027856,NM_004071,NM_001162407,NR_027855 CLK1,CLK1,CLK1,CLK1 EXON Silent,Missense_S101I,Missense_S143I,Silent exm256452 2 201726056 [T/C] NR_027856,NM_004071,NM_001162407,NR_027855 CLK1,CLK1,CLK1,CLK1 EXON Silent,Missense_N99D,Missense_N141D,Silent exm256462 2 201726566 [A/G] NR_027856,NM_004071,NM_001162407,NR_027855 CLK1,CLK1,CLK1,CLK1 EXON Silent,Missense_T7I,Missense_T49I,Silent exm256464 2 201728858 [T/C] NR_027856,NM_004071,NM_001162407,NR_027855 CLK1,CLK1,CLK1,CLK1 EXON Silent,Silent,Missense_R31H,Silent exm256473 2 201736166 [A/C] NM_032472,NM_130906 PPIL3,PPIL3 EXON Missense_D150E,Missense_D146E exm256480 2 201741711 [T/C] NM_032472,NM_130906 PPIL3,PPIL3 EXON Missense_N101S,Missense_N97S exm256481 2 201741720 [A/G] NM_032472,NM_130906 PPIL3,PPIL3 EXON Missense_P98L,Missense_P94L exm256487 2 201747101 [T/C] NM_032472,NM_130906 PPIL3,PPIL3 EXON Silent,Missense_I46V exm256491 2 201750468 [A/C] NM_032472,NM_130906 PPIL3,PPIL3 EXON Missense_D11Y,Missense_D11Y exm1994491 2 201756740 [A/G] NM_001142355,NM_001136039,NM_021824,NM_001142356 NIF3L1,NIF3L1,NIF3L1,NIF3L1 EXON Silent,Missense_R25H,Silent,Missense_R25H exm256500 2 201756761 [T/C] NM_001142355,NM_001136039,NM_021824,NM_001142356 NIF3L1,NIF3L1,NIF3L1,NIF3L1 EXON Missense_A5V,Missense_A32V,Missense_A5V,Missense_A32V exm256502 2 201756797 [T/C] NM_001142355,NM_001136039,NM_021824,NM_001142356 NIF3L1,NIF3L1,NIF3L1,NIF3L1 EXON Missense_S17L,Missense_S44L,Missense_S17L,Missense_S44L exm256503 2 201756935 [T/C] NM_001142355,NM_001136039,NM_021824,NM_001142356 NIF3L1,NIF3L1,NIF3L1,NIF3L1 EXON Missense_L63P,Missense_L90P,Missense_L63P,Missense_L90P exm256505 2 201756952 [A/G] NM_001142355,NM_001136039,NM_021824,NM_001142356 NIF3L1,NIF3L1,NIF3L1,NIF3L1 EXON Missense_I69V,Missense_I96V,Missense_I69V,Missense_I96V exm256508 2 201756970 [T/C] NM_001142355,NM_001136039,NM_021824,NM_001142356 NIF3L1,NIF3L1,NIF3L1,NIF3L1 EXON Missense_R75C,Missense_R102C,Missense_R75C,Missense_R102C exm256519 2 201758002 [A/G] NM_001142355,NM_001136039,NM_021824,NM_001142356 NIF3L1,NIF3L1,NIF3L1,NIF3L1 EXON Missense_K130R,Missense_K157R,Missense_K130R,Missense_K157R exm256521 2 201758012 [G/C] NM_001142355,NM_001136039,NM_021824,NM_001142356 NIF3L1,NIF3L1,NIF3L1,NIF3L1 EXON Missense_N133K,Missense_N160K,Missense_N133K,Missense_N160K exm256531 2 201760066 [T/C] NM_001142355,NM_001136039,NM_021824,NM_001142356 NIF3L1,NIF3L1,NIF3L1,NIF3L1 EXON Missense_R200W,Missense_R227W,Missense_R200W,Missense_R227W exm256532 2 201760067 [A/G] NM_001142355,NM_001136039,NM_021824,NM_001142356 NIF3L1,NIF3L1,NIF3L1,NIF3L1 EXON Missense_R200Q,Missense_R227Q,Missense_R200Q,Missense_R227Q exm256535 2 201761827 [A/G] NM_001142355,NM_001136039,NM_021824,NM_001142356 NIF3L1,NIF3L1,NIF3L1,NIF3L1 EXON Missense_R225Q,Missense_R252Q,Missense_R225Q,Silent exm256543 2 201764172 [A/G] NM_001142355,NM_001136039,NM_021824,NM_001142356 NIF3L1,NIF3L1,NIF3L1,NIF3L1 EXON Synonymous_E283E,Synonymous_E310E,Synonymous_E283E,Missense_R264K exm256545 2 201768238 [T/C] NM_001142355,NM_001136039,NM_021824,NM_001142356 NIF3L1,NIF3L1,NIF3L1,NIF3L1 EXON Missense_T297I,Missense_T324I,Missense_T297I,Missense_L278F exm256561 2 201784957 [T/G] NM_006190,NR_033915 ORC2,ORC2 EXON Missense_T485N,Silent exm256575 2 201791522 [T/C] NM_006190,NR_033915 ORC2,ORC2 EXON Missense_N340S,Silent exm256583 2 201796161 [A/C] NM_006190,NR_033915 ORC2,ORC2 EXON Missense_R273L,Silent exm256599 2 201807434 [A/G] NM_006190,NR_033915 ORC2,ORC2 EXON Missense_T132M,Silent exm256612 2 201845999 [A/C] NM_173822 FAM126B EXON Missense_Q529H exm256641 2 201853137 [T/C] NM_173822 FAM126B EXON Missense_N280S exm256645 2 201857662 [A/C] NM_173822 FAM126B EXON Missense_V231L exm256648 2 201862181 [A/G] NM_173822 FAM126B EXON Missense_R205W exm256655 2 201876126 [T/C] NM_173822 FAM126B EXON Missense_I135V exm256675 2 201943624 [T/C] NM_001257102,NM_002491 NDUFB3,NDUFB3 EXON Missense_H7Y,Missense_H7Y exm256683 2 201950223 [T/C] NM_001257102,NM_002491 NDUFB3,NDUFB3 EXON Missense_V61A,Missense_V61A exm256695 2 201997828 [A/G] NM_001202519,NM_001127184,NM_001202517,NM_001202516,NM_003879,NM_001127183,NM_001202518 CFLAR,CFLAR,CFLAR,CFLAR,CFLAR,CFLAR,CFLAR EXON Missense_M24V,Missense_M120V,Missense_M24V,Missense_M120V,Missense_M120V,Missense_M120V,Missense_M24V exm256709 2 202006096 [A/G] NM_001202519,NM_001127184,NM_001202517,NM_001202516,NM_003879,NM_001127183,NM_001202518,NM_001202515,NR_040030 CFLAR,CFLAR,CFLAR,CFLAR,CFLAR,CFLAR,CFLAR,CFLAR,CFLAR-AS1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm256712 2 202010101 [A/C] NM_001202519,NM_001202517,NM_001202516,NM_003879,NM_001127183,NM_001202518,NM_001202515,NR_040030 CFLAR,CFLAR,CFLAR,CFLAR,CFLAR,CFLAR,CFLAR,CFLAR-AS1 EXON Missense_L107I,Missense_L107I,Silent,Missense_L203I,Missense_L203I,Missense_L107I,Silent,Silent exm256724 2 202025269 [A/G] NM_001202519,NM_001202517,NM_001202516,NM_003879,NM_001127183,NM_001202518,NM_001202515 CFLAR,CFLAR,CFLAR,CFLAR,CFLAR,CFLAR,CFLAR EXON Missense_R207Q,Missense_R207Q,Missense_R268Q,Missense_R303Q,Missense_R303Q,Missense_R207Q,Missense_R58Q exm256746 2 202050562 [A/G] NM_032977,NM_001206542,NM_032976,NM_001206524,NM_032974,NM_001230 CASP10,CASP10,CASP10,CASP10,CASP10,CASP10 EXON Missense_R21H,Missense_R21H,Missense_R21H,Missense_R21H,Missense_R21H,Missense_R21H exm256764 2 202052445 [A/C] NM_032977,NM_001206542,NM_032976,NM_001206524,NM_032974,NM_001230 CASP10,CASP10,CASP10,CASP10,CASP10,CASP10 EXON Missense_L122M,Missense_L122M,Missense_L122M,Missense_L122M,Missense_L122M,Missense_L122M exm256766 2 202052514 [A/G] NM_032977,NM_001206542,NM_032976,NM_001206524,NM_032974,NM_001230 CASP10,CASP10,CASP10,CASP10,CASP10,CASP10 EXON Missense_T145A,Missense_T145A,Missense_T145A,Missense_T145A,Missense_T145A,Missense_T145A exm256769 2 202060670 [T/C] NM_032977,NM_001206542,NM_032976,NM_001206524,NM_032974,NM_001230 CASP10,CASP10,CASP10,CASP10,CASP10,CASP10 EXON Missense_P228L,Missense_P228L,Missense_P228L,Missense_P228L,Missense_P228L,Missense_P228L exm256778 2 202068483 [A/T] NM_032977,NM_001206542,NM_032976,NM_001206524,NM_032974,NM_001230 CASP10,CASP10,CASP10,CASP10,CASP10,CASP10 EXON Missense_S239C,Silent,Missense_S239C,Missense_S239C,Missense_S239C,Silent exm256795 2 202072897 [A/G] NM_032977,NM_001206542,NM_032976,NM_001206524,NM_032974,NM_001230 CASP10,CASP10,CASP10,CASP10,CASP10,CASP10 EXON Missense_K305E,Missense_K262E,Synonymous_X274X,Silent,Missense_K305E,Missense_K262E exm256800 2 202073823 [A/G] NM_032977,NM_001206542,NM_032976,NM_001206524,NM_032974,NM_001230 CASP10,CASP10,CASP10,CASP10,CASP10,CASP10 EXON Missense_G318E,Missense_G275E,Silent,Missense_G251E,Missense_G318E,Missense_G275E exm256802 2 202073933 [A/G] NM_032977,NM_001206542,NM_032976,NM_001206524,NM_032974,NM_001230 CASP10,CASP10,CASP10,CASP10,CASP10,CASP10 EXON Missense_I355V,Missense_I312V,Silent,Missense_I288V,Missense_I355V,Missense_I312V exm256810 2 202074086 [T/A] NM_032977,NM_001206542,NM_032976,NM_001206524,NM_032974,NM_001230 CASP10,CASP10,CASP10,CASP10,CASP10,CASP10 EXON Missense_I406L,Missense_I363L,Silent,Missense_I339L,Missense_I406L,Missense_I363L exm256811 2 202074098 [A/G] NM_032977,NM_001206542,NM_032976,NM_001206524,NM_032974,NM_001230 CASP10,CASP10,CASP10,CASP10,CASP10,CASP10 EXON Missense_V410I,Missense_V367I,Silent,Missense_V343I,Missense_V410I,Missense_V367I exm256815 2 202074167 [A/G] NM_032977,NM_001206542,NM_032976,NM_001206524,NM_032974,NM_001230 CASP10,CASP10,CASP10,CASP10,CASP10,CASP10 EXON Missense_E433K,Missense_E390K,Silent,Missense_E366K,Missense_E433K,Missense_E390K exm256821 2 202082397 [T/C] NM_032977,NM_001206542,NM_032976,NM_001206524,NM_032974,NM_001230 CASP10,CASP10,CASP10,CASP10,CASP10,CASP10 EXON Missense_P501L,Silent,Silent,Missense_P434L,Silent,Missense_P458L exm256822 2 202082432 [T/C] NM_032977,NM_001206542,NM_032976,NM_001206524,NM_032974,NM_001230 CASP10,CASP10,CASP10,CASP10,CASP10,CASP10 EXON Missense_F513L,Silent,Silent,Missense_F446L,Silent,Missense_F470L exm256824 2 202093659 [A/G] NM_001206542,NM_032974 CASP10,CASP10 EXON Missense_M430I,Missense_M473I exm-rs3834129 2 202097532 [D/I] exm256838 2 202122956 [T/C] NM_001228,NM_033355,NM_033358,NM_001080124,NM_001080125 CASP8,CASP8,CASP8,CASP8,CASP8 EXON Silent,Silent,Silent,Silent,Missense_M1T exm256840 2 202122995 [A/G] NM_001228,NM_033355,NM_033358,NM_001080124,NM_001080125 CASP8,CASP8,CASP8,CASP8,CASP8 EXON Silent,Silent,Silent,Silent,Missense_K14R exm256841 2 202123027 [G/C] NM_001228,NM_033355,NM_033358,NM_001080124,NM_001080125 CASP8,CASP8,CASP8,CASP8,CASP8 EXON Silent,Silent,Silent,Silent,Missense_P25A exm256842 2 202123028 [G/C] NM_001228,NM_033355,NM_033358,NM_001080124,NM_001080125 CASP8,CASP8,CASP8,CASP8,CASP8 EXON Silent,Silent,Silent,Silent,Missense_P25R exm2236915 2 202134328 [A/G] NM_001228,NM_033355,NM_033358,NM_001080124,NM_001080125,NM_033356 CASP8,CASP8,CASP8,CASP8,CASP8,CASP8 EXON Missense_R134K,Silent,Silent,Silent,Silent,Silent exm256864 2 202137380 [T/C] NM_001228,NM_033355,NM_033358,NM_001080124,NM_001080125,NM_033356 CASP8,CASP8,CASP8,CASP8,CASP8,CASP8 EXON Missense_I176T,Missense_I144T,Missense_I144T,Missense_I144T,Missense_I203T,Missense_I144T exm256865 2 202137381 [A/G] NM_001228,NM_033355,NM_033358,NM_001080124,NM_001080125,NM_033356 CASP8,CASP8,CASP8,CASP8,CASP8,CASP8 EXON Missense_I176M,Missense_I144M,Missense_I144M,Missense_I144M,Missense_I203M,Missense_I144M exm256866 2 202137392 [A/G] NM_001228,NM_033355,NM_033358,NM_001080124,NM_001080125,NM_033356 CASP8,CASP8,CASP8,CASP8,CASP8,CASP8 EXON Missense_K180R,Missense_K148R,Missense_K148R,Missense_K148R,Missense_K207R,Missense_K148R exm256870 2 202137626 [A/C] NM_001228,NM_033355,NM_033358,NM_001080124,NM_001080125,NM_033356 CASP8,CASP8,CASP8,CASP8,CASP8,CASP8 EXON Silent,Missense_S186R,Missense_S186R,Silent,Missense_S245R,Silent exm256876 2 202139671 [A/T] NM_001228,NM_033355,NM_033358,NM_001080124,NM_001080125,NM_033356 CASP8,CASP8,CASP8,CASP8,CASP8,CASP8 EXON Missense_S236T,Missense_S219T,Silent,Missense_S204T,Missense_S278T,Missense_S204T exm-rs1045485 2 202149589 [G/C] NM_001228,NM_033355,NM_001080124,NM_001080125,NM_033356 CASP8,CASP8,CASP8,CASP8,CASP8 EXON Missense_D302H,Missense_D285H,Missense_D270H,Missense_D344H,Missense_D270H exm256884 2 202149628 [A/G] NM_001228,NM_033355,NM_001080124,NM_001080125,NM_033356 CASP8,CASP8,CASP8,CASP8,CASP8 EXON Missense_I315V,Missense_I298V,Missense_I283V,Missense_I357V,Missense_I283V exm256913 2 202153382 [C/G] NM_139163,NM_001127391 ALS2CR12,ALS2CR12 EXON Nonsense_S445X,Nonsense_S422X exm256918 2 202153410 [T/G] NM_139163,NM_001127391 ALS2CR12,ALS2CR12 EXON Missense_Q436K,Missense_Q413K exm256924 2 202154201 [A/G] NM_139163,NM_001127391 ALS2CR12,ALS2CR12 EXON Missense_T397M,Missense_T374M exm256928 2 202154247 [A/G] NM_139163,NM_001127391 ALS2CR12,ALS2CR12 EXON Missense_F382L,Missense_F359L exm256932 2 202154468 [T/C] NM_139163,NM_001127391 ALS2CR12,ALS2CR12 EXON Missense_E351G,Missense_E328G exm256934 2 202154531 [A/T] NM_139163,NM_001127391 ALS2CR12,ALS2CR12 EXON Missense_L330Q,Silent exm256948 2 202195200 [A/G] NM_139163,NM_001127391 ALS2CR12,ALS2CR12 EXON Missense_T223M,Missense_T223M exm256950 2 202195204 [A/G] NM_139163,NM_001127391 ALS2CR12,ALS2CR12 EXON Missense_R222C,Missense_R222C exm256954 2 202195488 [T/G] NM_139163,NM_001127391 ALS2CR12,ALS2CR12 EXON Missense_A198E,Missense_A198E exm256956 2 202195515 [T/G] NM_139163,NM_001127391 ALS2CR12,ALS2CR12 EXON Missense_E189A,Missense_E189A exm256960 2 202207132 [A/C] NM_139163,NM_001127391 ALS2CR12,ALS2CR12 EXON Missense_R162L,Missense_R162L exm256972 2 202211395 [G/C] NM_139163,NM_001127391 ALS2CR12,ALS2CR12 EXON Missense_V80L,Missense_V80L exm2265259 2 202245244 [A/G] NM_015049 TRAK2 EXON Silent exm2236919 2 202245307 [T/A] NM_015049 TRAK2 EXON Missense_C902S exm256997 2 202245415 [A/G] NM_015049 TRAK2 EXON Nonsense_Q866X exm256998 2 202245423 [T/A] NM_015049 TRAK2 EXON Missense_I863N exm257003 2 202245546 [T/C] NM_015049 TRAK2 EXON Missense_R822Q exm257010 2 202245796 [T/C] NM_015049 TRAK2 EXON Missense_M739V exm257020 2 202248933 [G/C] NM_015049 TRAK2 EXON Missense_T657S exm257028 2 202251153 [A/C] NM_015049 TRAK2 EXON Missense_I584S exm257034 2 202252539 [A/G] NM_015049 TRAK2 EXON Missense_T528I exm257039 2 202252596 [T/C] NM_015049 TRAK2 EXON Missense_R509Q exm257040 2 202252597 [A/G] NM_015049 TRAK2 EXON Missense_R509W exm257054 2 202254200 [A/G] NM_015049 TRAK2 EXON Missense_T407I exm257055 2 202254210 [A/C] NM_015049 TRAK2 EXON Missense_V404L exm257058 2 202254549 [T/C] NM_015049 TRAK2 EXON Missense_E390K exm257077 2 202262965 [T/C] NM_015049 TRAK2 EXON Missense_N198S exm257084 2 202264156 [T/C] NM_015049 TRAK2 EXON Missense_V142I exm257090 2 202272134 [T/C] NM_015049 TRAK2 EXON Missense_R93H exm257091 2 202272135 [A/G] NM_015049 TRAK2 EXON Missense_R93C exm257096 2 202272186 [A/G] NM_015049 TRAK2 EXON Missense_R76W exm257110 2 202334688 [A/G] NM_001206864,NM_018571 STRADB,STRADB EXON Missense_T36A,Missense_T36A exm257130 2 202342485 [T/C] NM_001206864,NM_018571 STRADB,STRADB EXON Missense_P231L,Missense_P231L exm257135 2 202343089 [T/C] NM_001206864,NM_018571 STRADB,STRADB EXON Nonsense_Q279X,Nonsense_Q279X exm1994743 2 202343304 [A/G] NM_001206864,NM_018571 STRADB,STRADB EXON Synonymous_L350L,Synonymous_L350L exm257141 2 202343324 [C/G] NM_001206864,NM_018571 STRADB,STRADB EXON Missense_R357T,Missense_R357T exm257156 2 202352363 [T/C] NM_001168216,NM_001168221,NM_152525 ALS2CR11,ALS2CR11,ALS2CR11 EXON Silent,Missense_R1812Q,Missense_R615Q exm257157 2 202352364 [A/G] NM_001168216,NM_001168221,NM_152525 ALS2CR11,ALS2CR11,ALS2CR11 EXON Silent,Missense_R1812W,Missense_R615W exm257159 2 202352433 [A/G] NM_001168216,NM_001168221,NM_152525 ALS2CR11,ALS2CR11,ALS2CR11 EXON Silent,Missense_R1789C,Missense_R592C exm1994751 2 202352462 [T/C] NM_001168216,NM_001168221,NM_152525 ALS2CR11,ALS2CR11,ALS2CR11 EXON Silent,Missense_R1779Q,Missense_R582Q exm257160 2 202352463 [A/G] NM_001168216,NM_001168221,NM_152525 ALS2CR11,ALS2CR11,ALS2CR11 EXON Silent,Nonsense_R1779X,Nonsense_R582X exm257161 2 202352480 [A/G] NM_001168216,NM_001168221,NM_152525 ALS2CR11,ALS2CR11,ALS2CR11 EXON Silent,Missense_P1773L,Missense_P576L exm257178 2 202356509 [T/C] NM_001168216,NM_001168221,NM_152525 ALS2CR11,ALS2CR11,ALS2CR11 EXON Silent,Missense_E1519K,Silent exm257180 2 202356749 [T/C] NM_001168216,NM_001168221,NM_152525 ALS2CR11,ALS2CR11,ALS2CR11 EXON Silent,Missense_K1439E,Silent exm257194 2 202357645 [A/C] NM_001168216,NM_001168221,NM_152525 ALS2CR11,ALS2CR11,ALS2CR11 EXON Silent,Missense_L1140R,Silent exm257199 2 202357949 [A/C] NM_001168216,NM_001168221,NM_152525 ALS2CR11,ALS2CR11,ALS2CR11 EXON Silent,Missense_C1039G,Silent exm257203 2 202358234 [T/A] NM_001168216,NM_001168221,NM_152525 ALS2CR11,ALS2CR11,ALS2CR11 EXON Silent,Missense_I944F,Silent exm257204 2 202358395 [T/C] NM_001168216,NM_001168221,NM_152525 ALS2CR11,ALS2CR11,ALS2CR11 EXON Silent,Missense_N890S,Silent exm257228 2 202400832 [T/C] NM_001168216,NM_001168221,NM_152525,NM_001168217 ALS2CR11,ALS2CR11,ALS2CR11,ALS2CR11 EXON Silent,Missense_R473K,Missense_R473K,Missense_R473K exm257231 2 202400872 [A/G] NM_001168216,NM_001168221,NM_152525,NM_001168217 ALS2CR11,ALS2CR11,ALS2CR11,ALS2CR11 EXON Silent,Missense_P460S,Missense_P460S,Missense_P460S exm257232 2 202400884 [A/C] NM_001168216,NM_001168221,NM_152525,NM_001168217 ALS2CR11,ALS2CR11,ALS2CR11,ALS2CR11 EXON Silent,Missense_A456S,Missense_A456S,Missense_A456S exm257237 2 202400987 [T/G] NM_001168216,NM_001168221,NM_152525,NM_001168217 ALS2CR11,ALS2CR11,ALS2CR11,ALS2CR11 EXON Silent,Missense_D421E,Missense_D421E,Missense_D421E exm257240 2 202401019 [T/C] NM_001168216,NM_001168221,NM_152525,NM_001168217 ALS2CR11,ALS2CR11,ALS2CR11,ALS2CR11 EXON Silent,Missense_G411S,Missense_G411S,Missense_G411S exm257244 2 202410300 [T/A] NM_001168216,NM_001168221,NM_152525,NM_001168217 ALS2CR11,ALS2CR11,ALS2CR11,ALS2CR11 EXON Missense_H376Q,Missense_H376Q,Missense_H376Q,Missense_H376Q exm257245 2 202410313 [A/G] NM_001168216,NM_001168221,NM_152525,NM_001168217 ALS2CR11,ALS2CR11,ALS2CR11,ALS2CR11 EXON Missense_T372M,Missense_T372M,Missense_T372M,Missense_T372M exm257246 2 202410319 [T/G] NM_001168216,NM_001168221,NM_152525,NM_001168217 ALS2CR11,ALS2CR11,ALS2CR11,ALS2CR11 EXON Missense_E370A,Missense_E370A,Missense_E370A,Missense_E370A exm257250 2 202412290 [T/C] NM_001168216,NM_001168221,NM_152525,NM_001168217 ALS2CR11,ALS2CR11,ALS2CR11,ALS2CR11 EXON Missense_I341V,Missense_I341V,Missense_I341V,Missense_I341V exm1994770 2 202412312 [T/G] NM_001168216,NM_001168221,NM_152525,NM_001168217 ALS2CR11,ALS2CR11,ALS2CR11,ALS2CR11 EXON Missense_E333D,Missense_E333D,Missense_E333D,Missense_E333D exm257251 2 202412322 [A/G] NM_001168216,NM_001168221,NM_152525,NM_001168217 ALS2CR11,ALS2CR11,ALS2CR11,ALS2CR11 EXON Missense_M330T,Missense_M330T,Missense_M330T,Missense_M330T exm257257 2 202430486 [A/G] NM_001168216,NM_001168221,NM_152525,NM_001168217 ALS2CR11,ALS2CR11,ALS2CR11,ALS2CR11 EXON Nonsense_R315X,Nonsense_R315X,Nonsense_R315X,Nonsense_R315X exm257263 2 202430563 [C/G] NM_001168216,NM_001168221,NM_152525,NM_001168217 ALS2CR11,ALS2CR11,ALS2CR11,ALS2CR11 EXON Missense_P289R,Missense_P289R,Missense_P289R,Missense_P289R exm257264 2 202430584 [A/G] NM_001168216,NM_001168221,NM_152525,NM_001168217 ALS2CR11,ALS2CR11,ALS2CR11,ALS2CR11 EXON Missense_T282I,Missense_T282I,Missense_T282I,Missense_T282I exm257270 2 202438963 [T/C] NM_001168216,NM_001168221,NM_152525,NM_001168217 ALS2CR11,ALS2CR11,ALS2CR11,ALS2CR11 EXON Missense_Y241C,Missense_Y241C,Missense_Y241C,Missense_Y241C exm257281 2 202466507 [G/C] NM_001168216,NM_001168221,NM_152525,NM_001168217 ALS2CR11,ALS2CR11,ALS2CR11,ALS2CR11 EXON Missense_K157N,Missense_K157N,Missense_K157N,Missense_K157N exm257282 2 202466517 [T/C] NM_001168216,NM_001168221,NM_152525,NM_001168217 ALS2CR11,ALS2CR11,ALS2CR11,ALS2CR11 EXON Missense_N154S,Missense_N154S,Missense_N154S,Missense_N154S exm257284 2 202466535 [T/C] NM_001168216,NM_001168221,NM_152525,NM_001168217 ALS2CR11,ALS2CR11,ALS2CR11,ALS2CR11 EXON Missense_C148Y,Missense_C148Y,Missense_C148Y,Missense_C148Y exm257290 2 202467970 [T/C] NM_001168216,NM_001168221,NM_152525,NM_001168217 ALS2CR11,ALS2CR11,ALS2CR11,ALS2CR11 EXON Missense_N116S,Missense_N116S,Missense_N116S,Missense_N116S exm1994791 2 202467972 [G/C] NM_001168216,NM_001168221,NM_152525,NM_001168217 ALS2CR11,ALS2CR11,ALS2CR11,ALS2CR11 EXON Missense_K115N,Missense_K115N,Missense_K115N,Missense_K115N exm257291 2 202469351 [T/C] NM_001168216,NM_001168221,NM_152525,NM_001168217 ALS2CR11,ALS2CR11,ALS2CR11,ALS2CR11 EXON Missense_V101M,Missense_V101M,Missense_V101M,Missense_V101M exm257295 2 202469419 [T/A] NM_001168216,NM_001168221,NM_152525,NM_001168217 ALS2CR11,ALS2CR11,ALS2CR11,ALS2CR11 EXON Missense_M78K,Missense_M78K,Missense_M78K,Missense_M78K exm257297 2 202483624 [T/C] NM_001168216,NM_001168221,NM_152525,NM_001168217 ALS2CR11,ALS2CR11,ALS2CR11,ALS2CR11 EXON Missense_N77S,Missense_N77S,Missense_N77S,Missense_N77S exm257304 2 202483711 [A/G] NM_001168216,NM_001168221,NM_152525,NM_001168217 ALS2CR11,ALS2CR11,ALS2CR11,ALS2CR11 EXON Missense_A48V,Missense_A48V,Missense_A48V,Missense_A48V exm257312 2 202490812 [A/C] NM_152388,NM_001044385 TMEM237,TMEM237 EXON Missense_A358S,Missense_A366S exm257320 2 202492871 [T/C] NM_152388,NM_001044385 TMEM237,TMEM237 EXON Missense_I283V,Missense_I291V exm257322 2 202494044 [T/C] NM_152388,NM_001044385 TMEM237,TMEM237 EXON Missense_N252D,Missense_N260D exm1994809 2 202494495 [A/G] NM_152388,NM_001044385 TMEM237,TMEM237 EXON Missense_W204R,Missense_W212R exm257335 2 202496888 [T/C] NM_152388,NM_001044385 TMEM237,TMEM237 EXON Missense_V139I,Missense_V147I exm257344 2 202501551 [T/C] NM_152388,NM_001044385 TMEM237,TMEM237 EXON Missense_N57S,Missense_N65S exm257350 2 202503751 [A/G] NM_152388,NM_001044385 TMEM237,TMEM237 EXON Missense_R25C,Missense_R33C exm257355 2 202505638 [A/G] NM_152388,NM_001044385 TMEM237,TMEM237 EXON Nonsense_R10X,Nonsense_R18X exm257363 2 202509938 [A/G] NM_033066 MPP4 EXON Nonsense_Q637X exm257368 2 202512449 [T/C] NM_033066 MPP4 EXON Missense_V562I exm257381 2 202514849 [T/C] NM_033066 MPP4 EXON Missense_R474H exm257385 2 202514879 [T/C] NM_033066 MPP4 EXON Missense_R464H exm1994840 2 202521040 [C/G] NM_033066 MPP4 EXON Missense_P394R exm257397 2 202521071 [A/G] NM_033066 MPP4 EXON Missense_R384C exm257420 2 202545700 [T/C] NM_033066 MPP4 EXON Missense_M264V exm257421 2 202545712 [T/C] NM_033066 MPP4 EXON Missense_D260N exm257433 2 202550699 [G/C] NM_033066 MPP4 EXON Missense_I145M exm257441 2 202557686 [A/C] NM_033066 MPP4 EXON Missense_G49V exm257442 2 202557702 [T/C] NM_033066 MPP4 EXON Missense_G44S exm2254902 2 202561571 [A/G] NM_033066 MPP4 Silent exm257449 2 202566584 [T/G] NM_020919 ALS2 EXON Missense_K1655T exm257450 2 202566591 [A/G] NM_020919 ALS2 EXON Missense_R1653C exm2236932 2 202568919 [T/C] NM_020919 ALS2 EXON Missense_V1621I exm257465 2 202571734 [A/G] NM_020919 ALS2 EXON Missense_T1472M exm257472 2 202574689 [T/C] NM_020919 ALS2 EXON Missense_V1399M exm257473 2 202575717 [T/C] NM_020919 ALS2 EXON Missense_I1373M exm257480 2 202580494 [T/C] NM_020919 ALS2 EXON Missense_R1302H exm257485 2 202580527 [T/C] NM_020919 ALS2 EXON Missense_E1291G exm257511 2 202590176 [A/C] NM_020919 ALS2 EXON Missense_Y1084D exm257513 2 202591249 [T/C] NM_020919 ALS2 EXON Missense_G1069E exm257519 2 202591523 [C/G] NM_020919 ALS2 EXON Missense_P1016A exm257523 2 202591936 [T/G] NM_020919 ALS2 EXON Missense_K993T exm257535 2 202593775 [T/C] NM_020919 ALS2 EXON Synonymous_T904T exm257551 2 202598100 [T/A] NM_020919 ALS2 EXON Missense_T827S exm257555 2 202606398 [T/C] NM_020919 ALS2 EXON Missense_E784K exm257573 2 202614467 [T/C] NM_020919 ALS2 EXON Missense_D595N exm257576 2 202617965 [T/C] NM_020919 ALS2 EXON Synonymous_R547R exm257579 2 202619239 [T/C] NM_020919 ALS2 EXON Missense_D543N exm257596 2 202622467 [T/C] NM_020919 ALS2 EXON Missense_A377T exm257597 2 202622481 [C/G] NM_020919 ALS2 EXON Missense_P372R exm257599 2 202625615 [T/C] NM_020919,NM_001135745 ALS2,ALS2 EXON Missense_V368M,Missense_V368M exm257603 2 202625680 [T/C] NM_020919,NM_001135745 ALS2,ALS2 EXON Missense_N346S,Missense_N346S exm257608 2 202625992 [A/G] NM_020919,NM_001135745 ALS2,ALS2 EXON Missense_M242T,Missense_M242T exm257614 2 202626242 [T/C] NM_020919,NM_001135745 ALS2,ALS2 EXON Missense_E159K,Missense_E159K exm257621 2 202626386 [T/C] NM_020919,NM_001135745 ALS2,ALS2 EXON Missense_V111I,Missense_V111I exm257624 2 202626437 [T/C] NM_020919,NM_001135745 ALS2,ALS2 EXON Missense_I94V,Missense_I94V exm257630 2 202632039 [T/C] NM_020919,NM_001135745 ALS2,ALS2 EXON Missense_I30V,Missense_I30V exm1994954 2 202672283 [G/C] NM_139158,NM_001261436,NM_001261435 CDK15,CDK15,CDK15 EXON Missense_R13G,Missense_R64G,Missense_R64G exm257646 2 202672314 [A/G] NM_139158,NM_001261436,NM_001261435 CDK15,CDK15,CDK15 EXON Missense_R23Q,Missense_R74Q,Missense_R74Q exm257650 2 202672614 [T/G] NM_139158,NM_001261436,NM_001261435 CDK15,CDK15,CDK15 EXON Missense_Y52D,Missense_Y103D,Missense_Y103D exm257651 2 202672651 [T/C] NM_139158,NM_001261436,NM_001261435 CDK15,CDK15,CDK15 EXON Missense_A64V,Missense_A115V,Missense_A115V exm257654 2 202677217 [A/G] NM_139158,NM_001261436,NM_001261435 CDK15,CDK15,CDK15 EXON Missense_Q76R,Missense_Q127R,Missense_Q127R exm257673 2 202688391 [A/G] NM_139158,NM_001261436,NM_001261435 CDK15,CDK15,CDK15 EXON Missense_T132A,Missense_T183A,Missense_T183A exm1994961 2 202688397 [A/C] NM_139158,NM_001261436,NM_001261435 CDK15,CDK15,CDK15 EXON Missense_L134M,Missense_L185M,Missense_L185M exm257679 2 202698593 [A/G] NM_139158,NM_001261436,NM_001261435 CDK15,CDK15,CDK15 EXON Missense_R159Q,Missense_R210Q,Missense_R210Q exm2236937 2 202698595 [A/G] NM_139158,NM_001261436,NM_001261435 CDK15,CDK15,CDK15 EXON Missense_G160S,Missense_G211S,Missense_G211S exm257684 2 202700365 [A/G] NM_139158,NM_001261436,NM_001261435 CDK15,CDK15,CDK15 Silent,Silent,Silent exm257685 2 202700374 [T/C] NM_139158,NM_001261436,NM_001261435 CDK15,CDK15,CDK15 EXON Missense_R196W,Missense_R247W,Missense_R247W exm257688 2 202700399 [T/C] NM_139158,NM_001261436,NM_001261435 CDK15,CDK15,CDK15 EXON Missense_T204I,Missense_T255I,Missense_T255I exm257696 2 202712127 [T/A] NM_139158,NM_001261436,NM_001261435 CDK15,CDK15,CDK15 EXON Missense_E241V,Missense_E292V,Missense_E292V exm257718 2 202744815 [T/C] NM_139158,NM_001261436,NM_001261435 CDK15,CDK15,CDK15 EXON Missense_R324C,Missense_R375C,Missense_R375C exm257721 2 202744892 [T/C] NM_139158,NM_001261436,NM_001261435 CDK15,CDK15,CDK15 Silent,Silent,Silent exm257724 2 202755538 [A/G] NM_139158,NM_001261435 CDK15,CDK15 EXON Missense_R359K,Missense_R404K exm2261151 2 202799297 [T/C] exm-rs17385675 2 202807196 [T/C] exm257770 2 202900299 [A/G] NM_003507 FZD7 EXON Missense_E310G exm-rs1521882 2 202949851 [A/G] exm2265261 2 203033509 [A/G] exm257874 2 203139911 [A/G] NM_015934 NOP58 EXON Missense_I41V exm257889 2 203147188 [T/C] NM_015934 NOP58 EXON Missense_V97A exm257917 2 203157560 [A/G] NM_015934 NOP58 EXON Missense_A281T exm257923 2 203160435 [A/G] NM_015934 NOP58 EXON Missense_V316I exm257929 2 203162153 [T/C] NM_015934 NOP58 EXON Missense_F375L exm257930 2 203162217 [A/G] NM_015934 NOP58 EXON Missense_R396K exm257939 2 203167758 [G/C] NM_015934 NOP58 EXON Missense_P506R exm2261152 2 203212305 [T/C] exm257957 2 203329541 [A/G] NM_001204 BMPR2 EXON Missense_N29S exm257959 2 203329602 [T/G] NM_001204 BMPR2 EXON Missense_S49R exm1995047 2 203332270 [A/C] NM_001204 BMPR2 EXON Missense_Q92H exm257972 2 203383597 [A/G] NM_001204 BMPR2 EXON Missense_R225H exm2273850 2 203395591 [A/G] NM_001204 BMPR2 EXON Missense_V348I exm258003 2 203407042 [A/G] NM_001204 BMPR2 EXON Missense_V429I exm258010 2 203417610 [T/C] NM_001204 BMPR2 EXON Missense_R529C exm258018 2 203420154 [A/G] NM_001204 BMPR2 EXON Missense_Y589C exm258024 2 203420528 [T/G] NM_001204 BMPR2 EXON Missense_A714S exm258026 2 203420574 [C/G] NM_001204 BMPR2 EXON Missense_G729A exm258034 2 203420712 [A/G] NM_001204 BMPR2 EXON Missense_S775N exm258037 2 203420750 [A/G] NM_001204 BMPR2 EXON Missense_V788I exm1995072 2 203420841 [T/C] NM_001204 BMPR2 EXON Missense_S818F exm258054 2 203421044 [T/C] NM_001204 BMPR2 EXON Missense_R886C exm258057 2 203421084 [A/G] NM_001204 BMPR2 EXON Missense_R899Q exm258062 2 203424439 [T/G] NM_001204 BMPR2 EXON Missense_G963C exm-rs6435161 2 203519783 [T/G] NM_173511 FAM117B Silent exm258083 2 203591079 [A/G] NM_173511 FAM117B EXON Missense_Q318R exm2269206 2 203606754 [T/C] NM_173511 FAM117B Silent exm258085 2 203620403 [T/C] NM_173511 FAM117B EXON Missense_I368T exm258086 2 203621937 [T/C] NM_173511 FAM117B EXON Missense_P369L exm258097 2 203622162 [A/G] NM_173511 FAM117B Silent exm258123 2 203653587 [T/A] NM_138468 ICA1L EXON Missense_F403L exm258126 2 203661621 [T/G] NM_138468 ICA1L EXON Missense_S326Y exm258128 2 203676470 [T/G] NM_138468 ICA1L EXON Missense_Q303H exm258133 2 203680632 [A/G] NM_138468 ICA1L Silent exm258134 2 203680638 [A/G] NM_138468 ICA1L EXON Missense_L260P exm258138 2 203680699 [A/G] NM_138468 ICA1L EXON Nonsense_R240X exm258150 2 203684484 [T/C] NM_138468 ICA1L EXON Missense_M166I exm258152 2 203684530 [T/C] NM_138468 ICA1L EXON Missense_R151Q exm258157 2 203686154 [T/C] NM_138468 ICA1L EXON Missense_E96K exm258160 2 203686202 [T/C] NM_138468 ICA1L EXON Missense_I80V exm258178 2 203748336 [T/C] NM_018256 WDR12 EXON Missense_R373G exm258187 2 203749009 [A/C] NM_018256 WDR12 EXON Missense_F300L exm2273851 2 203762071 [T/C] NM_018256 WDR12 EXON Missense_I136V exm258210 2 203765756 [T/C] NM_018256 WDR12 EXON Missense_I75V exm258211 2 203765798 [A/G] NM_018256 WDR12 EXON Missense_F61L exm258212 2 203765800 [T/C] NM_018256 WDR12 EXON Missense_Q60R exm258215 2 203772630 [T/C] NM_018256 WDR12 EXON Missense_D32N exm258226 2 203806666 [A/G] NM_001104586,NM_024744 ALS2CR8,ALS2CR8 EXON Missense_D14G,Missense_D14G exm258231 2 203807615 [T/A] NM_001104586,NM_024744 ALS2CR8,ALS2CR8 EXON Missense_Q77H,Missense_Q77H exm258237 2 203817297 [T/C] NM_001104586,NM_024744 ALS2CR8,ALS2CR8 EXON Missense_P108S,Missense_P108S exm258241 2 203817321 [T/C] NM_001104586,NM_024744 ALS2CR8,ALS2CR8 EXON Missense_R116C,Missense_R116C exm258250 2 203818803 [A/G] NM_001104586,NM_024744 ALS2CR8,ALS2CR8 EXON Missense_N168S,Missense_N168S exm258251 2 203818856 [A/G] NM_001104586,NM_024744 ALS2CR8,ALS2CR8 EXON Missense_G186R,Missense_G186R exm258258 2 203820465 [A/G] NM_001104586,NM_024744 ALS2CR8,ALS2CR8 EXON Missense_R209H,Missense_R209H exm258266 2 203831821 [A/G] NM_001104586,NM_024744 ALS2CR8,ALS2CR8 EXON Missense_R318Q,Missense_R318Q exm1995155 2 203839088 [A/G] NM_001104586,NM_024744 ALS2CR8,ALS2CR8 EXON Missense_D455N,Missense_D455N exm258282 2 203839218 [T/C] NM_001104586,NM_024744 ALS2CR8,ALS2CR8 EXON Missense_T498M,Missense_T498M exm258293 2 203846817 [A/T] NM_001104586,NM_024744 ALS2CR8,ALS2CR8 EXON Missense_Y571F,Missense_Y571F exm1995160 2 203846865 [T/C] NM_001104586,NM_024744 ALS2CR8,ALS2CR8 EXON Missense_P587L,Missense_P587L exm258298 2 203847008 [T/C] NM_001104586,NM_024744 ALS2CR8,ALS2CR8 EXON Missense_L635F,Missense_L635F exm258305 2 203848342 [A/G] NM_001104586,NM_024744 ALS2CR8,ALS2CR8 EXON Missense_T725A,Missense_T725A exm-rs2351524 2 203880992 [T/C] NM_001114132 NBEAL1 EXON Silent exm2265262 2 203913552 [A/G] NM_001114132 NBEAL1 Silent exm2236945 2 203921202 [A/G] NM_001114132 NBEAL1 EXON Missense_I120V exm258325 2 203964406 [A/G] NM_001114132 NBEAL1 EXON Missense_A385T exm2236947 2 203972506 [A/G] NM_001114132 NBEAL1 EXON Missense_N486S exm258328 2 203972820 [T/G] NM_001114132 NBEAL1 EXON Missense_A591S exm258339 2 203980768 [A/C] NM_001114132 NBEAL1 EXON Missense_N827T exm258341 2 203990078 [A/G] NM_001114132 NBEAL1 EXON Missense_I867V exm258347 2 203991290 [T/C] NM_001114132 NBEAL1 EXON Missense_T970I exm258353 2 203995078 [A/G] NM_001114132 NBEAL1 EXON Missense_R1119H exm258357 2 203995185 [T/G] NM_001114132 NBEAL1 EXON Nonsense_E1155X exm2236948 2 203997844 [A/G] NM_001114132 NBEAL1 EXON Missense_N1234S exm258368 2 204000571 [A/G] NM_001114132 NBEAL1 EXON Missense_T1300A exm1995168 2 204000661 [A/C] NM_001114132 NBEAL1 EXON Missense_S1330R exm258371 2 204000676 [T/C] NM_001114132 NBEAL1 EXON Missense_H1335Y exm258376 2 204000845 [T/C] NM_001114132 NBEAL1 EXON Missense_P1391L exm258378 2 204000937 [A/G] NM_001114132 NBEAL1 EXON Missense_G1422S exm258379 2 204001377 [A/G] NM_001114132 NBEAL1 EXON Missense_C1453Y exm258388 2 204003355 [A/G] NM_001114132 NBEAL1 EXON Missense_M1549V exm1995176 2 204003431 [T/C] NM_001114132 NBEAL1 EXON Missense_I1574T exm1995178 2 204009369 [A/G] NM_001114132 NBEAL1 EXON Missense_K1603R exm258394 2 204009387 [A/G] NM_001114132 NBEAL1 EXON Missense_D1609G exm258395 2 204009393 [T/C] NM_001114132 NBEAL1 EXON Missense_A1611V exm258398 2 204009437 [A/G] NM_001114132 NBEAL1 EXON Missense_I1626V exm258399 2 204009459 [A/T] NM_001114132 NBEAL1 EXON Missense_Y1633F exm258400 2 204009470 [A/G] NM_001114132 NBEAL1 EXON Missense_I1637V exm258407 2 204009779 [A/G] NM_001114132 NBEAL1 EXON Missense_G1705S exm258414 2 204013747 [T/C] NM_001114132 NBEAL1 EXON Missense_R1751C exm258415 2 204013748 [A/G] NM_001114132 NBEAL1 EXON Missense_R1751H exm258418 2 204013816 [T/C] NM_001114132 NBEAL1 EXON Missense_R1774C exm258422 2 204016252 [G/C] NM_001114132 NBEAL1 EXON Missense_L1814V exm1995190 2 204022478 [T/G] NM_001114132 NBEAL1 EXON Missense_V1853L exm258432 2 204031006 [T/C] NM_001114132 NBEAL1 EXON Missense_I1921T exm258443 2 204037533 [A/G] NM_001114132 NBEAL1 EXON Missense_I2065V exm258463 2 204058557 [G/C] NM_001114132 NBEAL1 EXON Missense_Q2292E exm258465 2 204058625 [T/G] NM_001114132 NBEAL1 EXON Missense_F2314L exm258467 2 204062061 [A/G] NM_001114132 NBEAL1 EXON Missense_I2330V exm258468 2 204062116 [T/C] NM_001114132 NBEAL1 Silent exm258469 2 204064061 [A/G] NM_001114132 NBEAL1 EXON Missense_I2348V exm258470 2 204064086 [T/C] NM_001114132 NBEAL1 EXON Missense_I2356T exm1995234 2 204066437 [A/G] NM_001114132 NBEAL1 EXON Missense_M2441I exm258479 2 204067408 [A/G] NM_001114132 NBEAL1 Silent exm258483 2 204073414 [A/G] NM_001114132 NBEAL1 EXON Missense_T2492A exm258486 2 204073435 [A/G] NM_001114132 NBEAL1 EXON Missense_G2499S exm258520 2 204111587 [A/G] NM_177538 CYP20A1 EXON Missense_V78M exm2273852 2 204111603 [A/C] NM_177538 CYP20A1 EXON Missense_T83N exm258530 2 204116690 [T/C] NM_177538 CYP20A1 EXON Missense_S97L exm258535 2 204116764 [A/G] NM_177538 CYP20A1 EXON Missense_M122V exm258551 2 204137450 [T/C] NM_177538 CYP20A1 EXON Missense_R220W exm258552 2 204137451 [A/G] NM_177538 CYP20A1 EXON Missense_R220Q exm258555 2 204143409 [T/C] NM_177538 CYP20A1 EXON Nonsense_Q265X exm258565 2 204154552 [T/C] NM_177538 CYP20A1 EXON Missense_L346F exm258567 2 204154575 [T/G] NM_177538 CYP20A1 EXON Missense_I353M exm258572 2 204161222 [A/G] NM_177538 CYP20A1 EXON Missense_E392K exm258575 2 204161510 [T/A] NM_177538 CYP20A1 EXON Missense_L423H exm-rs11888559 2 204165171 [T/C] NM_177538 CYP20A1 EXON Silent exm258582 2 204245066 [A/G] NM_005759 ABI2 EXON Missense_I141V exm258585 2 204255784 [A/G] NM_005759 ABI2 EXON Missense_M160V exm258588 2 204255803 [T/C] NM_005759 ABI2 EXON Missense_P166L exm258591 2 204259505 [A/G] NM_005759 ABI2 EXON Missense_M215V exm258597 2 204267413 [T/A] NM_005759 ABI2 EXON Missense_L316H exm258599 2 204267456 [A/G] NM_005759 ABI2 EXON Synonymous_P330P exm-rs1376877 2 204272090 [T/C] NM_005759 ABI2 Silent exm1995298 2 204276031 [T/A] NM_005759 ABI2 EXON Missense_S339T exm258614 2 204304163 [T/C] NM_213589 RAPH1 EXON Nonsense_W1250X exm258631 2 204304489 [T/G] NM_213589 RAPH1 EXON Missense_P1142T exm258641 2 204304605 [A/G] NM_213589 RAPH1 EXON Missense_V1103A exm258643 2 204304665 [A/G] NM_213589 RAPH1 EXON Missense_P1083L exm258650 2 204304806 [T/C] NM_213589 RAPH1 EXON Missense_N1036S exm258654 2 204304897 [T/G] NM_213589 RAPH1 EXON Missense_P1006T exm258672 2 204305172 [A/G] NM_213589 RAPH1 EXON Missense_P914L exm258673 2 204305178 [A/G] NM_213589 RAPH1 EXON Missense_P912L exm258676 2 204305305 [T/G] NM_213589 RAPH1 EXON Missense_P870T exm1995323 2 204305568 [A/G] NM_213589 RAPH1 EXON Missense_L782P exm258691 2 204305620 [T/G] NM_213589 RAPH1 EXON Missense_P765T exm258694 2 204305691 [A/C] NM_213589 RAPH1 EXON Missense_S741I exm258695 2 204305693 [G/C] NM_213589 RAPH1 EXON Missense_F740L exm258708 2 204305926 [T/C] NM_213589 RAPH1 EXON Missense_M663V exm258719 2 204306061 [A/G] NM_213589 RAPH1 EXON Missense_P618S exm1995331 2 204306081 [A/G] NM_213589 RAPH1 EXON Missense_P611L exm2261153 2 204306433 [T/C] NM_213589,NM_203365 RAPH1,RAPH1 EXON Silent,Silent exm258730 2 204309653 [A/T] NM_213589,NM_203365 RAPH1,RAPH1 EXON Missense_I572F,Missense_I624F exm258735 2 204312707 [T/C] NM_213589,NM_203365 RAPH1,RAPH1 EXON Synonymous_S536S,Synonymous_S588S exm2254908 2 204312707 [T/C] NM_213589,NM_203365 RAPH1,RAPH1 EXON Synonymous_S536S,Synonymous_S588S exm258738 2 204313480 [T/C] NM_213589,NM_203365 RAPH1,RAPH1 EXON Missense_N498S,Missense_N550S exm258739 2 204313498 [A/G] NM_213589,NM_203365 RAPH1,RAPH1 EXON Missense_T492I,Missense_T544I exm258744 2 204320182 [T/C] NM_213589,NM_203365 RAPH1,RAPH1 EXON Missense_Y427C,Missense_Y479C exm258757 2 204326005 [A/C] NM_213589,NM_203365 RAPH1,RAPH1 EXON Missense_S313A,Missense_S365A exm258758 2 204326023 [T/C] NM_213589,NM_203365 RAPH1,RAPH1 EXON Missense_G307S,Missense_G359S exm258767 2 204341842 [T/C] NM_213589,NM_203365 RAPH1,RAPH1 EXON Silent,Missense_K257R exm258768 2 204341870 [T/A] NM_213589,NM_203365 RAPH1,RAPH1 EXON Silent,Missense_S248T exm258769 2 204354309 [T/C] NM_213589,NM_203365 RAPH1,RAPH1 EXON Missense_E244K,Missense_E244K exm258776 2 204354476 [C/G] NM_213589,NM_203365 RAPH1,RAPH1 EXON Missense_R188T,Missense_R188T exm258783 2 204354695 [A/G] NM_213589,NM_203365 RAPH1,RAPH1 EXON Missense_T115M,Missense_T115M exm258790 2 204355977 [T/C] NM_213589,NM_203365 RAPH1,RAPH1 EXON Missense_M62I,Missense_M62I exm258795 2 204359957 [T/C] NM_213589,NM_203365 RAPH1,RAPH1 EXON Synonymous_Q40Q,Synonymous_Q40Q exm258803 2 204571441 [T/C] NM_001243077,NM_001243078,NM_006139 CD28,CD28,CD28 EXON Missense_L8F,Missense_L8F,Missense_L8F exm258804 2 204571459 [A/G] NM_001243077,NM_001243078,NM_006139 CD28,CD28,CD28 EXON Missense_I14V,Missense_I14V,Missense_I14V exm258805 2 204571465 [A/G] NM_001243077,NM_001243078,NM_006139 CD28,CD28,CD28 EXON Missense_V16I,Missense_V16I,Missense_V16I exm258810 2 204591485 [A/G] NM_001243077,NM_001243078,NM_006139 CD28,CD28,CD28 EXON Silent,Silent,Missense_S61N exm258814 2 204591575 [A/G] NM_001243077,NM_001243078,NM_006139 CD28,CD28,CD28 EXON Silent,Silent,Missense_G91D exm258817 2 204594403 [A/G] NM_001243077,NM_001243078,NM_006139 CD28,CD28,CD28 EXON Missense_G51R,Missense_G29R,Missense_G148R exm1995380 2 204599564 [T/C] NM_001243077,NM_001243078,NM_006139 CD28,CD28,CD28 EXON Missense_R101C,Missense_R79C,Missense_R198C exm-rs231735 2 204693876 [T/G] exm-rs1024161 2 204721752 [T/C] exm258830 2 204732687 [T/C] NM_005214,NM_001037631 CTLA4,CTLA4 EXON Missense_R8W,Missense_R8W exm258831 2 204732688 [A/G] NM_005214,NM_001037631 CTLA4,CTLA4 EXON Missense_R8Q,Missense_R8Q exm258833 2 204732714 [A/G] NM_005214,NM_001037631 CTLA4,CTLA4 EXON Missense_T17A,Missense_T17A exm258843 2 204735525 [A/G] NM_005214,NM_001037631 CTLA4,CTLA4 EXON Missense_G109E,Missense_G109E exm258849 2 204736208 [A/G] NM_005214,NM_001037631 CTLA4,CTLA4 EXON Missense_M189V,Silent exm-rs3087243 2 204738919 [A/G] exm258856 2 204801577 [T/C] NM_012092 ICOS EXON Missense_R14C exm-rs4675374 2 204802578 [T/C] NM_012092 ICOS Silent exm2254910 2 204820405 [T/C] NM_012092 ICOS EXON Synonymous_N35N exm1995398 2 204820406 [A/G] NM_012092 ICOS EXON Missense_G36R exm258882 2 204824311 [A/G] NM_012092 ICOS EXON Missense_V197M exm2254911 2 205274728 [A/C] exm2265385 2 205505348 [A/G] NM_152526,NM_057177,NM_205863 PARD3B,PARD3B,PARD3B Silent,Silent,Silent exm258900 2 205829944 [T/C] NM_152526,NM_057177,NM_205863 PARD3B,PARD3B,PARD3B EXON Missense_R98W,Missense_R98W,Missense_R98W exm258904 2 205830017 [T/C] NM_152526,NM_057177,NM_205863 PARD3B,PARD3B,PARD3B EXON Missense_I122T,Missense_I122T,Missense_I122T exm-rs2335704 2 205864832 [A/C] NM_152526,NM_057177,NM_205863 PARD3B,PARD3B,PARD3B Silent,Silent,Silent exm258906 2 205912387 [A/G] NM_152526,NM_057177,NM_205863 PARD3B,PARD3B,PARD3B EXON Missense_G160S,Missense_G160S,Missense_G160S exm258907 2 205912403 [T/C] NM_152526,NM_057177,NM_205863 PARD3B,PARD3B,PARD3B EXON Missense_L165P,Missense_L165P,Missense_L165P exm2269207 2 205926400 [T/C] NM_152526,NM_057177,NM_205863 PARD3B,PARD3B,PARD3B Silent,Silent,Silent exm258912 2 205969162 [A/G] NM_152526,NM_057177,NM_205863 PARD3B,PARD3B,PARD3B EXON Missense_N173D,Missense_N173D,Missense_N173D exm258915 2 205969220 [A/G] NM_152526,NM_057177,NM_205863 PARD3B,PARD3B,PARD3B EXON Missense_R192K,Missense_R192K,Missense_R192K exm258917 2 205978220 [A/T] NM_152526,NM_057177,NM_205863 PARD3B,PARD3B,PARD3B EXON Missense_M200K,Missense_M200K,Missense_M200K exm258933 2 205986331 [T/C] NM_152526,NM_057177,NM_205863 PARD3B,PARD3B,PARD3B EXON Missense_R275C,Missense_R275C,Missense_R275C exm1995446 2 205986404 [T/C] NM_152526,NM_057177,NM_205863 PARD3B,PARD3B,PARD3B EXON Missense_S299L,Missense_S299L,Missense_S299L exm258938 2 205986458 [A/G] NM_152526,NM_057177,NM_205863 PARD3B,PARD3B,PARD3B EXON Missense_K317R,Missense_K317R,Missense_K317R exm258943 2 205986611 [T/C] NM_152526,NM_057177,NM_205863 PARD3B,PARD3B,PARD3B EXON Missense_S368L,Missense_S368L,Missense_S368L exm258949 2 205989107 [A/G] NM_152526,NM_057177,NM_205863 PARD3B,PARD3B,PARD3B EXON Missense_G408S,Missense_G408S,Missense_G408S exm258965 2 206023465 [A/G] NM_152526,NM_057177,NM_205863 PARD3B,PARD3B,PARD3B EXON Silent,Missense_C485Y,Missense_C485Y exm258966 2 206023483 [A/C] NM_152526,NM_057177,NM_205863 PARD3B,PARD3B,PARD3B EXON Silent,Missense_T491K,Missense_T491K exm258969 2 206023605 [A/G] NM_152526,NM_057177,NM_205863 PARD3B,PARD3B,PARD3B EXON Silent,Missense_I532V,Missense_I532V exm258972 2 206036948 [A/G] NM_152526,NM_057177,NM_205863 PARD3B,PARD3B,PARD3B EXON Missense_R483Q,Missense_R545Q,Missense_R545Q exm258977 2 206037028 [T/C] NM_152526,NM_057177,NM_205863 PARD3B,PARD3B,PARD3B EXON Missense_R510W,Missense_R572W,Missense_R572W exm258982 2 206041242 [A/G] NM_152526,NM_057177,NM_205863 PARD3B,PARD3B,PARD3B EXON Missense_R560Q,Missense_R622Q,Missense_R622Q exm258983 2 206041244 [A/G] NM_152526,NM_057177,NM_205863 PARD3B,PARD3B,PARD3B EXON Missense_N561D,Missense_N623D,Missense_N623D exm258984 2 206041262 [T/C] NM_152526,NM_057177,NM_205863 PARD3B,PARD3B,PARD3B EXON Missense_H567Y,Missense_H629Y,Missense_H629Y exm258987 2 206050488 [A/G] NM_152526,NM_057177,NM_205863 PARD3B,PARD3B,PARD3B EXON Missense_G580D,Missense_G642D,Missense_G642D exm-rs1207421 2 206150594 [A/G] NM_152526,NM_057177,NM_205863 PARD3B,PARD3B,PARD3B Silent,Silent,Silent exm259002 2 206165371 [A/G] NM_152526,NM_057177,NM_205863 PARD3B,PARD3B,PARD3B EXON Missense_R706Q,Silent,Missense_R768Q exm259004 2 206165386 [A/G] NM_152526,NM_057177,NM_205863 PARD3B,PARD3B,PARD3B EXON Missense_R711Q,Silent,Missense_R773Q exm259024 2 206166362 [T/G] NM_152526,NM_057177,NM_205863 PARD3B,PARD3B,PARD3B EXON Missense_R794L,Missense_R787L,Missense_R856L exm259028 2 206166418 [A/G] NM_152526,NM_057177,NM_205863 PARD3B,PARD3B,PARD3B EXON Missense_M813V,Missense_M806V,Missense_M875V exm259032 2 206265780 [A/G] NM_152526,NM_057177,NM_205863 PARD3B,PARD3B,PARD3B EXON Missense_K830E,Missense_K823E,Missense_K892E exm259033 2 206265838 [A/G] NM_152526,NM_057177,NM_205863 PARD3B,PARD3B,PARD3B EXON Missense_E849G,Missense_E842G,Missense_E911G exm259034 2 206265841 [A/G] NM_152526,NM_057177,NM_205863 PARD3B,PARD3B,PARD3B EXON Missense_R850H,Missense_R843H,Missense_R912H exm259035 2 206305134 [A/G] NM_152526,NM_057177,NM_205863 PARD3B,PARD3B,PARD3B EXON Missense_R866G,Missense_R859G,Silent exm259037 2 206305156 [T/C] NM_152526,NM_057177,NM_205863 PARD3B,PARD3B,PARD3B EXON Missense_T873I,Missense_T866I,Silent exm259040 2 206305272 [T/C] NM_152526,NM_057177,NM_205863 PARD3B,PARD3B,PARD3B EXON Missense_P912S,Missense_P905S,Silent exm259041 2 206305302 [T/C] NM_152526,NM_057177,NM_205863 PARD3B,PARD3B,PARD3B EXON Missense_R922W,Missense_R915W,Silent exm259044 2 206305364 [A/C] NM_152526,NM_057177,NM_205863 PARD3B,PARD3B,PARD3B EXON Missense_N942K,Missense_N935K,Silent exm-rs11884476 2 206318593 [G/C] NM_152526,NM_057177,NM_205863 PARD3B,PARD3B,PARD3B Silent,Silent,Silent exm259046 2 206364649 [A/G] NM_152526,NM_057177,NM_205863 PARD3B,PARD3B,PARD3B EXON Missense_R963H,Missense_R956H,Missense_R924H exm259048 2 206364717 [A/G] NM_152526,NM_057177,NM_205863 PARD3B,PARD3B,PARD3B EXON Missense_E986K,Missense_E979K,Missense_E947K exm2269364 2 206391545 [T/G] NM_152526,NM_057177,NM_205863 PARD3B,PARD3B,PARD3B Silent,Silent,Silent exm259056 2 206418087 [T/C] NM_152526,NM_057177,NM_205863 PARD3B,PARD3B,PARD3B EXON Missense_R1012C,Missense_R1005C,Missense_R973C exm259060 2 206480184 [C/G] NM_152526,NM_057177,NM_205863 PARD3B,PARD3B,PARD3B EXON Missense_G1027R,Missense_G1020R,Missense_G988R exm259063 2 206480197 [T/C] NM_152526,NM_057177,NM_205863 PARD3B,PARD3B,PARD3B EXON Missense_P1031L,Missense_P1024L,Missense_P992L exm259072 2 206480353 [A/C] NM_152526,NM_057177,NM_205863 PARD3B,PARD3B,PARD3B EXON Missense_P1083H,Missense_P1076H,Missense_P1044H exm259076 2 206480398 [T/C] NM_152526,NM_057177,NM_205863 PARD3B,PARD3B,PARD3B EXON Missense_P1098L,Missense_P1091L,Missense_P1059L exm259077 2 206480430 [A/G] NM_152526,NM_057177,NM_205863 PARD3B,PARD3B,PARD3B EXON Missense_A1109T,Missense_A1102T,Missense_A1070T exm259079 2 206480460 [T/C] NM_152526,NM_057177,NM_205863 PARD3B,PARD3B,PARD3B EXON Missense_R1119C,Missense_R1112C,Missense_R1080C exm259097 2 206581033 [A/G] NM_201279,NM_018534,NM_201267,NM_201266,NM_003872,NM_201264 NRP2,NRP2,NRP2,NRP2,NRP2,NRP2 EXON Missense_R123K,Missense_R123K,Missense_R123K,Missense_R123K,Missense_R123K,Missense_R123K exm259105 2 206587327 [A/G] NM_201279,NM_018534,NM_201267,NM_201266,NM_003872,NM_201264 NRP2,NRP2,NRP2,NRP2,NRP2,NRP2 EXON Missense_I187V,Missense_I187V,Missense_I187V,Missense_I187V,Missense_I187V,Missense_I187V exm259110 2 206588569 [T/C] NM_201279,NM_018534,NM_201267,NM_201266,NM_003872,NM_201264 NRP2,NRP2,NRP2,NRP2,NRP2,NRP2 EXON Missense_T242M,Missense_T242M,Missense_T242M,Missense_T242M,Missense_T242M,Missense_T242M exm259115 2 206590654 [T/C] NM_201279,NM_018534,NM_201267,NM_201266,NM_003872,NM_201264 NRP2,NRP2,NRP2,NRP2,NRP2,NRP2 EXON Missense_P280S,Missense_P280S,Missense_P280S,Missense_P280S,Missense_P280S,Missense_P280S exm259117 2 206590676 [A/G] NM_201279,NM_018534,NM_201267,NM_201266,NM_003872,NM_201264 NRP2,NRP2,NRP2,NRP2,NRP2,NRP2 EXON Missense_R287Q,Missense_R287Q,Missense_R287Q,Missense_R287Q,Missense_R287Q,Missense_R287Q exm259121 2 206590778 [A/T] NM_201279,NM_018534,NM_201267,NM_201266,NM_003872,NM_201264 NRP2,NRP2,NRP2,NRP2,NRP2,NRP2 EXON Missense_N321I,Missense_N321I,Missense_N321I,Missense_N321I,Missense_N321I,Missense_N321I exm259123 2 206592643 [T/C] NM_201279,NM_018534,NM_201267,NM_201266,NM_003872,NM_201264 NRP2,NRP2,NRP2,NRP2,NRP2,NRP2 EXON Missense_T340M,Missense_T340M,Missense_T340M,Missense_T340M,Missense_T340M,Missense_T340M exm259140 2 206605378 [T/C] NM_201279,NM_018534,NM_201267,NM_201266,NM_003872,NM_201264 NRP2,NRP2,NRP2,NRP2,NRP2,NRP2 EXON Missense_R428W,Missense_R428W,Missense_R428W,Missense_R428W,Missense_R428W,Missense_R428W exm259146 2 206608047 [A/G] NM_201279,NM_018534,NM_201267,NM_201266,NM_003872,NM_201264 NRP2,NRP2,NRP2,NRP2,NRP2,NRP2 EXON Missense_R471H,Missense_R471H,Missense_R471H,Missense_R471H,Missense_R471H,Missense_R471H exm259152 2 206608157 [A/G] NM_201279,NM_018534,NM_201267,NM_201266,NM_003872,NM_201264 NRP2,NRP2,NRP2,NRP2,NRP2,NRP2 EXON Missense_G508R,Missense_G508R,Missense_G508R,Missense_G508R,Missense_G508R,Missense_G508R exm259162 2 206610608 [T/C] NM_201279,NM_018534,NM_201267,NM_201266,NM_003872 NRP2,NRP2,NRP2,NRP2,NRP2 EXON Missense_W594R,Missense_W594R,Missense_W594R,Missense_W594R,Missense_W594R exm259164 2 206614461 [T/C] NM_201279,NM_018534,NM_201267,NM_201266,NM_003872 NRP2,NRP2,NRP2,NRP2,NRP2 EXON Missense_T600M,Missense_T600M,Missense_T600M,Missense_T600M,Missense_T600M exm259177 2 206617651 [T/C] NM_201279,NM_018534,NM_201267,NM_201266,NM_003872 NRP2,NRP2,NRP2,NRP2,NRP2 EXON Missense_R666W,Missense_R666W,Missense_R666W,Missense_R666W,Missense_R666W exm259180 2 206617684 [T/G] NM_201279,NM_018534,NM_201267,NM_201266,NM_003872 NRP2,NRP2,NRP2,NRP2,NRP2 EXON Missense_D677Y,Missense_D677Y,Missense_D677Y,Missense_D677Y,Missense_D677Y exm1995543 2 206617688 [A/G] NM_201279,NM_018534,NM_201267,NM_201266,NM_003872 NRP2,NRP2,NRP2,NRP2,NRP2 EXON Missense_R678Q,Missense_R678Q,Missense_R678Q,Missense_R678Q,Missense_R678Q exm2236960 2 206628443 [A/G] NM_201279,NM_018534,NM_201267,NM_201266,NM_003872 NRP2,NRP2,NRP2,NRP2,NRP2 EXON Missense_G697D,Missense_G697D,Missense_G697D,Missense_G697D,Missense_G697D exm259191 2 206630213 [A/G] NM_201279,NM_018534,NM_201267,NM_201266,NM_003872 NRP2,NRP2,NRP2,NRP2,NRP2 EXON Missense_V775M,Missense_V775M,Missense_V775M,Missense_V775M,Missense_V775M exm259207 2 206640979 [T/G] NM_201279,NM_018534,NM_201267,NM_201266,NM_003872 NRP2,NRP2,NRP2,NRP2,NRP2 EXON Silent,Missense_L817R,Missense_L812R,Silent,Silent exm259209 2 206641003 [A/T] NM_201279,NM_018534,NM_201267,NM_201266,NM_003872 NRP2,NRP2,NRP2,NRP2,NRP2 EXON Silent,Missense_V825E,Missense_V820E,Silent,Silent exm259221 2 206641240 [C/G] NM_201279,NM_018534,NM_201267,NM_201266,NM_003872 NRP2,NRP2,NRP2,NRP2,NRP2 EXON Silent,Missense_S904W,Missense_S899W,Silent,Silent exm259222 2 206641242 [A/C] NM_201279,NM_018534,NM_201267,NM_201266,NM_003872 NRP2,NRP2,NRP2,NRP2,NRP2 EXON Silent,Missense_H905N,Missense_H900N,Silent,Silent exm1995555 2 206641243 [T/A] NM_201279,NM_018534,NM_201267,NM_201266,NM_003872 NRP2,NRP2,NRP2,NRP2,NRP2 EXON Silent,Missense_H905L,Missense_H900L,Silent,Silent exm259238 2 206659591 [A/G] NM_201279,NM_201266,NM_003872 NRP2,NRP2,NRP2 EXON Missense_I847V,Missense_I869V,Missense_I864V exm259240 2 206659657 [A/T] NM_201279,NM_201266,NM_003872 NRP2,NRP2,NRP2 EXON Missense_T869S,Missense_T891S,Missense_T886S exm1995566 2 206659759 [A/C] NM_201279,NM_201266,NM_003872 NRP2,NRP2,NRP2 EXON Missense_Q903K,Missense_Q925K,Missense_Q920K exm2261156 2 206769589 [A/C] exm2269208 2 206830563 [T/G] exm-rs7603514 2 206836612 [A/G] exm259261 2 206869724 [A/T] NM_017759 INO80D EXON Missense_S818C exm259267 2 206869813 [T/C] NM_017759 INO80D EXON Missense_H788R exm259277 2 206870063 [A/T] NM_017759 INO80D EXON Missense_L705M exm259281 2 206872112 [T/C] NM_017759 INO80D EXON Missense_N605S exm259282 2 206872113 [T/C] NM_017759 INO80D EXON Missense_N605D exm259284 2 206874307 [T/C] NM_017759 INO80D EXON Missense_H585R exm259289 2 206874491 [A/G] NM_017759 INO80D EXON Missense_R524C exm259299 2 206892937 [T/C] NM_017759 INO80D EXON Missense_R399Q exm259303 2 206893042 [A/G] NM_017759 INO80D EXON Missense_A364V exm259304 2 206911228 [A/G] NM_017759 INO80D EXON Missense_A358V exm259309 2 206920966 [T/C] NM_017759 INO80D EXON Missense_C307Y exm259315 2 206921093 [A/G] NM_017759 INO80D EXON Missense_P265S exm259341 2 206991284 [T/C] NM_001199981,NM_001199982,NM_001199983,NM_001199984,NM_005006 NDUFS1,NDUFS1,NDUFS1,NDUFS1,NDUFS1 EXON Missense_I655V,Missense_I580V,Missense_I634V,Missense_I705V,Missense_I691V exm259346 2 206991447 [T/C] NM_001199981,NM_001199982,NM_001199983,NM_001199984,NM_005006 NDUFS1,NDUFS1,NDUFS1,NDUFS1,NDUFS1 EXON Missense_N633S,Missense_N558S,Missense_N612S,Missense_N683S,Missense_N669S exm259352 2 206994821 [T/C] NM_001199981,NM_001199982,NM_001199983,NM_001199984,NM_005006 NDUFS1,NDUFS1,NDUFS1,NDUFS1,NDUFS1 EXON Missense_I531V,Missense_I456V,Missense_I510V,Missense_I581V,Missense_I567V exm259364 2 206997706 [T/C] NM_001199981,NM_001199982,NM_001199983,NM_001199984,NM_005006 NDUFS1,NDUFS1,NDUFS1,NDUFS1,NDUFS1 EXON Missense_V470I,Missense_V395I,Missense_V449I,Missense_V520I,Missense_V506I exm259365 2 206997717 [A/C] NM_001199981,NM_001199982,NM_001199983,NM_001199984,NM_005006 NDUFS1,NDUFS1,NDUFS1,NDUFS1,NDUFS1 EXON Missense_M466R,Missense_M391R,Missense_M445R,Missense_M516R,Missense_M502R exm259371 2 207003231 [A/G] NM_001199981,NM_001199982,NM_001199983,NM_001199984,NM_005006 NDUFS1,NDUFS1,NDUFS1,NDUFS1,NDUFS1 EXON Missense_S421L,Missense_S346L,Missense_S400L,Missense_S471L,Missense_S457L exm259377 2 207006704 [T/C] NM_001199981,NM_001199982,NM_001199983,NM_001199984,NM_005006 NDUFS1,NDUFS1,NDUFS1,NDUFS1,NDUFS1 EXON Missense_R372H,Missense_R297H,Missense_R351H,Missense_R422H,Missense_R408H exm259386 2 207007482 [A/T] NM_001199981,NM_001199982,NM_001199983,NM_001199984,NM_005006 NDUFS1,NDUFS1,NDUFS1,NDUFS1,NDUFS1 EXON Missense_L318H,Missense_L243H,Missense_L297H,Missense_L368H,Missense_L354H exm259394 2 207008821 [G/C] NM_001199981,NM_001199982,NM_001199983,NM_001199984,NM_005006 NDUFS1,NDUFS1,NDUFS1,NDUFS1,NDUFS1 EXON Missense_T267S,Missense_T192S,Missense_T246S,Missense_T317S,Missense_T303S exm259397 2 207009662 [A/G] NM_001199981,NM_001199982,NM_001199983,NM_001199984,NM_005006 NDUFS1,NDUFS1,NDUFS1,NDUFS1,NDUFS1 EXON Missense_R240C,Missense_R165C,Missense_R219C,Missense_R290C,Missense_R276C exm259404 2 207011753 [A/G] NM_001199981,NM_001199982,NM_001199983,NM_001199984,NM_005006 NDUFS1,NDUFS1,NDUFS1,NDUFS1,NDUFS1 EXON Missense_M168T,Missense_M93T,Missense_M147T,Missense_M218T,Missense_M204T exm259407 2 207012277 [T/C] NM_001199981,NM_001199982,NM_001199983,NM_001199984,NM_005006 NDUFS1,NDUFS1,NDUFS1,NDUFS1,NDUFS1 EXON Missense_I141V,Missense_I66V,Missense_I120V,Missense_I191V,Missense_I177V exm259471 2 207040927 [A/G] NM_001261454,NM_005279,NM_001098199,NM_001261453,NM_001261452,NM_001261455 GPR1,GPR1,GPR1,GPR1,GPR1,GPR1 EXON Missense_C349R,Missense_C349R,Missense_C349R,Missense_C349R,Missense_C349R,Missense_C349R exm259476 2 207041053 [T/C] NM_001261454,NM_005279,NM_001098199,NM_001261453,NM_001261452,NM_001261455 GPR1,GPR1,GPR1,GPR1,GPR1,GPR1 EXON Missense_I307V,Missense_I307V,Missense_I307V,Missense_I307V,Missense_I307V,Missense_I307V exm259480 2 207041094 [C/G] NM_001261454,NM_005279,NM_001098199,NM_001261453,NM_001261452,NM_001261455 GPR1,GPR1,GPR1,GPR1,GPR1,GPR1 EXON Missense_A293G,Missense_A293G,Missense_A293G,Missense_A293G,Missense_A293G,Missense_A293G exm2236964 2 207041169 [T/C] NM_001261454,NM_005279,NM_001098199,NM_001261453,NM_001261452,NM_001261455 GPR1,GPR1,GPR1,GPR1,GPR1,GPR1 EXON Nonsense_W268X,Nonsense_W268X,Nonsense_W268X,Nonsense_W268X,Nonsense_W268X,Nonsense_W268X exm259487 2 207041265 [T/C] NM_001261454,NM_005279,NM_001098199,NM_001261453,NM_001261452,NM_001261455 GPR1,GPR1,GPR1,GPR1,GPR1,GPR1 EXON Missense_R236Q,Missense_R236Q,Missense_R236Q,Missense_R236Q,Missense_R236Q,Missense_R236Q exm259488 2 207041266 [A/G] NM_001261454,NM_005279,NM_001098199,NM_001261453,NM_001261452,NM_001261455 GPR1,GPR1,GPR1,GPR1,GPR1,GPR1 EXON Nonsense_R236X,Nonsense_R236X,Nonsense_R236X,Nonsense_R236X,Nonsense_R236X,Nonsense_R236X exm259505 2 207041527 [A/G] NM_001261454,NM_005279,NM_001098199,NM_001261453,NM_001261452,NM_001261455 GPR1,GPR1,GPR1,GPR1,GPR1,GPR1 EXON Nonsense_R149X,Nonsense_R149X,Nonsense_R149X,Nonsense_R149X,Nonsense_R149X,Nonsense_R149X exm259512 2 207041602 [T/C] NM_001261454,NM_005279,NM_001098199,NM_001261453,NM_001261452,NM_001261455 GPR1,GPR1,GPR1,GPR1,GPR1,GPR1 EXON Missense_S124G,Missense_S124G,Missense_S124G,Missense_S124G,Missense_S124G,Missense_S124G exm259515 2 207041769 [T/C] NM_001261454,NM_005279,NM_001098199,NM_001261453,NM_001261452,NM_001261455 GPR1,GPR1,GPR1,GPR1,GPR1,GPR1 EXON Missense_K68R,Missense_K68R,Missense_K68R,Missense_K68R,Missense_K68R,Missense_K68R exm1995656 2 207041777 [T/G] NM_001261454,NM_005279,NM_001098199,NM_001261453,NM_001261452,NM_001261455 GPR1,GPR1,GPR1,GPR1,GPR1,GPR1 EXON Missense_F65L,Missense_F65L,Missense_F65L,Missense_F65L,Missense_F65L,Missense_F65L exm1995657 2 207041779 [A/G] NM_001261454,NM_005279,NM_001098199,NM_001261453,NM_001261452,NM_001261455 GPR1,GPR1,GPR1,GPR1,GPR1,GPR1 EXON Missense_F65L,Missense_F65L,Missense_F65L,Missense_F65L,Missense_F65L,Missense_F65L exm259516 2 207041799 [T/A] NM_001261454,NM_005279,NM_001098199,NM_001261453,NM_001261452,NM_001261455 GPR1,GPR1,GPR1,GPR1,GPR1,GPR1 EXON Missense_I58N,Missense_I58N,Missense_I58N,Missense_I58N,Missense_I58N,Missense_I58N exm259517 2 207041824 [G/C] NM_001261454,NM_005279,NM_001098199,NM_001261453,NM_001261452,NM_001261455 GPR1,GPR1,GPR1,GPR1,GPR1,GPR1 EXON Missense_V50L,Missense_V50L,Missense_V50L,Missense_V50L,Missense_V50L,Missense_V50L exm259520 2 207041952 [A/G] NM_001261454,NM_005279,NM_001098199,NM_001261453,NM_001261452,NM_001261455 GPR1,GPR1,GPR1,GPR1,GPR1,GPR1 EXON Missense_T7I,Missense_T7I,Missense_T7I,Missense_T7I,Missense_T7I,Missense_T7I exm259527 2 207162033 [A/G] NM_020923 ZDBF2 EXON Missense_S42G exm259533 2 207169548 [T/A] NM_020923 ZDBF2 EXON Missense_D99V exm259541 2 207169638 [A/G] NM_020923 ZDBF2 EXON Missense_Q129R exm259543 2 207169736 [T/C] NM_020923 ZDBF2 EXON Missense_C162R exm259547 2 207169911 [A/G] NM_020923 ZDBF2 EXON Missense_D220G exm259548 2 207169918 [A/C] NM_020923 ZDBF2 EXON Missense_N222K exm259551 2 207170004 [A/G] NM_020923 ZDBF2 EXON Missense_Y251C exm259553 2 207170040 [A/G] NM_020923 ZDBF2 EXON Missense_R263H exm259558 2 207170197 [T/G] NM_020923 ZDBF2 EXON Missense_M315I exm259562 2 207170298 [A/G] NM_020923 ZDBF2 EXON Missense_N349S exm259563 2 207170334 [G/C] NM_020923 ZDBF2 EXON Missense_S361T exm259564 2 207170344 [T/G] NM_020923 ZDBF2 EXON Missense_M364I exm259565 2 207170388 [A/G] NM_020923 ZDBF2 EXON Missense_Q379R exm1995672 2 207170490 [G/C] NM_020923 ZDBF2 EXON Missense_S413C exm259574 2 207170615 [T/G] NM_020923 ZDBF2 EXON Missense_D455Y exm259576 2 207170640 [A/G] NM_020923 ZDBF2 EXON Missense_N463S exm259588 2 207171050 [A/G] NM_020923 ZDBF2 EXON Missense_V600I exm259591 2 207171102 [A/G] NM_020923 ZDBF2 EXON Missense_R617H exm259594 2 207171261 [T/C] NM_020923 ZDBF2 EXON Missense_F670S exm259596 2 207171311 [T/C] NM_020923 ZDBF2 EXON Missense_R687C exm259597 2 207171312 [A/G] NM_020923 ZDBF2 EXON Missense_R687H exm259606 2 207171573 [A/G] NM_020923 ZDBF2 EXON Missense_R774Q exm259610 2 207171885 [C/G] NM_020923 ZDBF2 EXON Missense_A878G exm1995683 2 207172046 [A/G] NM_020923 ZDBF2 EXON Missense_E932K exm259616 2 207172142 [T/C] NM_020923 ZDBF2 EXON Missense_L964F exm259627 2 207172521 [T/C] NM_020923 ZDBF2 EXON Missense_A1090V exm259631 2 207172679 [A/G] NM_020923 ZDBF2 EXON Missense_E1143K exm259638 2 207172889 [T/C] NM_020923 ZDBF2 EXON Missense_R1213W exm259641 2 207173057 [C/G] NM_020923 ZDBF2 EXON Missense_E1269Q exm2236967 2 207173104 [A/C] NM_020923 ZDBF2 EXON Missense_R1284S exm259644 2 207173160 [T/C] NM_020923 ZDBF2 EXON Missense_A1303V exm259645 2 207173364 [A/G] NM_020923 ZDBF2 EXON Missense_N1371S exm259647 2 207173390 [A/G] NM_020923 ZDBF2 EXON Missense_E1380K exm2275625 2 207174020 [A/C] NM_020923 ZDBF2 EXON Missense_T1590P exm259668 2 207174068 [T/C] NM_020923 ZDBF2 EXON Missense_R1606W exm259672 2 207174136 [T/C] NM_020923 ZDBF2 EXON Synonymous_N1628N exm259683 2 207174438 [A/G] NM_020923 ZDBF2 EXON Missense_R1729H exm259686 2 207174456 [C/G] NM_020923 ZDBF2 EXON Missense_R1735T exm259693 2 207174773 [A/G] NM_020923 ZDBF2 EXON Missense_I1841V exm259699 2 207175023 [A/C] NM_020923 ZDBF2 EXON Missense_E1924A exm259700 2 207175070 [A/G] NM_020923 ZDBF2 EXON Missense_A1940T exm259702 2 207175256 [T/C] NM_020923 ZDBF2 EXON Missense_P2002S exm259705 2 207175334 [A/C] NM_020923 ZDBF2 EXON Missense_P2028T exm259708 2 207175370 [T/C] NM_020923 ZDBF2 EXON Missense_R2040W exm259713 2 207175463 [T/C] NM_020923 ZDBF2 EXON Missense_P2071S exm259714 2 207175476 [T/G] NM_020923 ZDBF2 EXON Missense_R2075M exm259724 2 207175898 [T/C] NM_020923 ZDBF2 EXON Missense_R2216W exm259725 2 207175899 [A/G] NM_020923 ZDBF2 EXON Missense_R2216Q exm259727 2 207175978 [A/C] NM_020923 ZDBF2 EXON Missense_S2242R exm1995711 2 207176023 [T/A] NM_020923 ZDBF2 EXON Missense_S2257R exm259735 2 207176108 [A/G] NM_020923 ZDBF2 EXON Missense_M2286V exm259752 2 207310135 [A/G] NM_003812 ADAM23 EXON Missense_M107V exm259754 2 207310170 [A/G] NM_003812 ADAM23 EXON Missense_I118M exm259755 2 207310177 [A/C] NM_003812 ADAM23 EXON Missense_I121L exm259756 2 207310189 [T/G] NM_003812 ADAM23 EXON Missense_S125A exm259761 2 207345957 [G/C] NM_003812 ADAM23 EXON Missense_A145G exm259762 2 207345962 [T/C] NM_003812 ADAM23 EXON Missense_H147Y exm259764 2 207345998 [A/G] NM_003812 ADAM23 EXON Missense_G159S exm259772 2 207406828 [A/G] NM_003812 ADAM23 EXON Missense_K209R exm2236973 2 207413062 [C/G] NM_003812 ADAM23 EXON Missense_R284T exm259853 2 207459461 [T/C] NM_003812 ADAM23 EXON Synonymous_S693S exm259865 2 207460865 [G/C] NM_003812 ADAM23 EXON Missense_P780A exm2265264 2 207465830 [A/G] NM_003812 ADAM23 Silent exm259876 2 207509142 [A/G] NM_001102659 LOC200726 EXON Nonsense_W61X exm259877 2 207509153 [A/G] NM_001102659 LOC200726 EXON Missense_V65I exm259887 2 207509348 [A/C] NM_001102659 LOC200726 EXON Missense_P130T exm259892 2 207516624 [A/G] NM_001093730 DYTN EXON Missense_M552T exm259894 2 207527656 [A/G] NM_001093730 DYTN EXON Missense_M535T exm259896 2 207527815 [C/G] NM_001093730 DYTN EXON Missense_S482T exm259897 2 207527840 [T/G] NM_001093730 DYTN EXON Missense_Q474K exm259902 2 207527981 [A/C] NM_001093730 DYTN EXON Missense_G427W exm2275626 2 207530677 [G/C] NM_001093730 DYTN EXON Missense_R353G exm259924 2 207557965 [A/G] NM_001093730 DYTN EXON Missense_A305V exm259930 2 207559599 [T/C] NM_001093730 DYTN EXON Missense_Y241C exm259937 2 207564538 [A/G] NM_001093730 DYTN EXON Missense_P211L exm259941 2 207564889 [T/C] NM_001093730 DYTN EXON Missense_T179A exm259942 2 207564891 [A/G] NM_001093730 DYTN EXON Missense_A178V exm259943 2 207564900 [A/C] NM_001093730 DYTN EXON Missense_V175G exm259945 2 207564915 [T/C] NM_001093730 DYTN EXON Missense_R170H exm259948 2 207569580 [A/G] NM_001093730 DYTN EXON Missense_T157I exm259955 2 207569623 [A/C] NM_001093730 DYTN EXON Missense_S143A exm259956 2 207569640 [T/C] NM_001093730 DYTN EXON Missense_S137N exm259957 2 207570515 [A/G] NM_001093730 DYTN EXON Nonsense_R127X exm259962 2 207570565 [A/G] NM_001093730 DYTN EXON Missense_A110V exm259973 2 207572186 [A/G] NM_001093730 DYTN EXON Missense_R46C exm259978 2 207575266 [T/C] NM_001093730 DYTN EXON Missense_V26M exm259985 2 207603221 [T/C] NM_001039845 MDH1B EXON Missense_T515A exm259986 2 207603234 [T/G] NM_001039845 MDH1B EXON Missense_E510D exm260006 2 207613882 [A/C] NM_001039845 MDH1B EXON Missense_A360S exm260011 2 207615724 [T/C] NM_001039845 MDH1B EXON Missense_R329K exm260013 2 207615752 [A/C] NM_001039845 MDH1B EXON Missense_V320F exm260015 2 207615788 [T/C] NM_001039845 MDH1B EXON Missense_V308M exm1995836 2 207619764 [T/C] NM_001039845 MDH1B EXON Missense_I293M exm260019 2 207619792 [A/C] NM_001039845 MDH1B EXON Missense_L284R exm260021 2 207619795 [A/G] NM_001039845 MDH1B EXON Missense_A283V exm260023 2 207619834 [T/C] NM_001039845 MDH1B EXON Missense_R270K exm260025 2 207619837 [A/G] NM_001039845 MDH1B EXON Missense_M269T exm260032 2 207619993 [T/C] NM_001039845 MDH1B EXON Missense_S217N exm260038 2 207620015 [T/C] NM_001039845 MDH1B EXON Missense_V210I exm260040 2 207620027 [A/G] NM_001039845 MDH1B EXON Missense_R206C exm260046 2 207620125 [A/G] NM_001039845 MDH1B EXON Missense_A173V exm1995842 2 207621745 [A/G] NM_001039845 MDH1B EXON Missense_S97F exm260060 2 207622080 [T/C] NM_001039845 MDH1B EXON Missense_V51M exm260062 2 207625656 [T/C] NM_001039845 MDH1B EXON Missense_H35R exm260063 2 207625662 [T/C] NM_001039845 MDH1B EXON Missense_R33Q exm260073 2 207631446 [C/G] NM_014929,NM_001136194,NM_001136193 FASTKD2,FASTKD2,FASTKD2 EXON Missense_S10T,Missense_S10T,Missense_S10T exm260074 2 207631461 [A/G] NM_014929,NM_001136194,NM_001136193 FASTKD2,FASTKD2,FASTKD2 EXON Missense_S15N,Missense_S15N,Missense_S15N exm260079 2 207631566 [A/G] NM_014929,NM_001136194,NM_001136193 FASTKD2,FASTKD2,FASTKD2 EXON Missense_K50R,Missense_K50R,Missense_K50R exm260085 2 207631773 [T/C] NM_014929,NM_001136194,NM_001136193 FASTKD2,FASTKD2,FASTKD2 EXON Missense_S119F,Missense_S119F,Missense_S119F exm260094 2 207632019 [A/G] NM_014929,NM_001136194,NM_001136193 FASTKD2,FASTKD2,FASTKD2 EXON Missense_R201H,Missense_R201H,Missense_R201H exm2236981 2 207632101 [G/C] NM_014929,NM_001136194,NM_001136193 FASTKD2,FASTKD2,FASTKD2 EXON Missense_Q228H,Missense_Q228H,Missense_Q228H exm-rs2277912 2 207634236 [T/G] NM_014929,NM_001136194,NM_001136193 FASTKD2,FASTKD2,FASTKD2 Silent,Silent,Silent exm260103 2 207634909 [T/C] NM_014929,NM_001136194,NM_001136193 FASTKD2,FASTKD2,FASTKD2 EXON Missense_T291M,Missense_T291M,Missense_T291M exm1995862 2 207635935 [T/C] NM_014929,NM_001136194,NM_001136193 FASTKD2,FASTKD2,FASTKD2 EXON Missense_I304T,Missense_I304T,Missense_I304T exm260113 2 207636977 [A/G] NM_014929,NM_001136194,NM_001136193 FASTKD2,FASTKD2,FASTKD2 EXON Missense_N396S,Missense_N396S,Missense_N396S exm260114 2 207636983 [T/A] NM_014929,NM_001136194,NM_001136193 FASTKD2,FASTKD2,FASTKD2 EXON Missense_D398V,Missense_D398V,Missense_D398V exm260115 2 207636985 [T/C] NM_014929,NM_001136194,NM_001136193 FASTKD2,FASTKD2,FASTKD2 EXON Missense_L399F,Missense_L399F,Missense_L399F exm260119 2 207638973 [C/G] NM_014929,NM_001136194,NM_001136193 FASTKD2,FASTKD2,FASTKD2 EXON Missense_E427Q,Missense_E427Q,Missense_E427Q exm260124 2 207651464 [T/G] NM_014929,NM_001136194,NM_001136193 FASTKD2,FASTKD2,FASTKD2 EXON Missense_V479L,Missense_V479L,Missense_V479L exm260125 2 207651480 [A/G] NM_014929,NM_001136194,NM_001136193 FASTKD2,FASTKD2,FASTKD2 EXON Missense_S484N,Missense_S484N,Missense_S484N exm260133 2 207652844 [T/C] NM_014929,NM_001136194,NM_001136193 FASTKD2,FASTKD2,FASTKD2 EXON Missense_S593L,Missense_S593L,Missense_S593L exm260143 2 207656411 [A/G] NM_014929,NM_001136194,NM_001136193 FASTKD2,FASTKD2,FASTKD2 EXON Missense_N673S,Missense_N673S,Missense_N673S exm260147 2 207656486 [T/C] NM_014929,NM_001136194,NM_001136193 FASTKD2,FASTKD2,FASTKD2 EXON Missense_A698V,Missense_A698V,Missense_A698V exm2269209 2 207798923 [T/G] exm260154 2 207804388 [A/C] NM_173077 CPO EXON Missense_D22A exm260161 2 207820198 [A/G] NM_173077 CPO EXON Nonsense_W59X exm260164 2 207820276 [A/G] NM_173077 CPO EXON Missense_M85I exm260167 2 207823034 [T/C] NM_173077 CPO EXON Missense_P93S exm260170 2 207823062 [A/G] NM_173077 CPO EXON Nonsense_W102X exm260176 2 207824384 [T/G] NM_173077 CPO EXON Missense_S134R exm2236984 2 207824451 [T/C] NM_173077 CPO EXON Missense_Y157H exm260180 2 207825603 [C/G] NM_173077 CPO EXON Missense_P171A exm260182 2 207825642 [T/C] NM_173077 CPO EXON Nonsense_R184X exm260184 2 207825652 [A/G] NM_173077 CPO EXON Missense_N187S exm260191 2 207827220 [A/G] NM_173077 CPO EXON Missense_S220N exm260205 2 207833930 [T/C] NM_173077 CPO EXON Nonsense_R299X exm260208 2 207833993 [T/G] NM_173077 CPO EXON Missense_V320F exm260213 2 207834031 [T/G] NM_173077 CPO EXON Missense_E332D exm260215 2 207834072 [T/C] NM_173077 CPO EXON Missense_A346V exm260230 2 207988659 [A/G] NM_001270942,NM_001270944,NM_003709,NM_001270943,NR_073108 KLF7,KLF7,KLF7,KLF7,KLF7 EXON Silent,Missense_A163V,Missense_A191V,Missense_A158V,Silent exm260235 2 207988780 [T/C] NM_001270942,NM_001270944,NM_003709,NM_001270943,NR_073108 KLF7,KLF7,KLF7,KLF7,KLF7 EXON Missense_T151A,Missense_T123A,Missense_T151A,Missense_T118A,Silent exm2261158 2 208014898 [T/C] NM_001270942,NM_003709,NM_001270943,NR_073108 KLF7,KLF7,KLF7,KLF7 Silent,Silent,Silent,Silent exm260266 2 208420462 [A/G] NM_134442,NM_004379 CREB1,CREB1 EXON Missense_T35A,Missense_T35A exm260268 2 208424972 [T/C] NM_134442,NM_004379 CREB1,CREB1 EXON Missense_A46V,Missense_A46V exm260287 2 208477772 [A/G] NM_001127395,NM_145280 METTL21A,METTL21A EXON Missense_X219Q,Missense_X219Q exm260291 2 208477852 [A/G] NM_001127395,NM_145280 METTL21A,METTL21A EXON Missense_T192I,Missense_T192I exm260296 2 208477897 [T/C] NM_001127395,NM_145280 METTL21A,METTL21A EXON Missense_Y177C,Missense_Y177C exm2236988 2 208477907 [A/G] NM_001127395,NM_145280 METTL21A,METTL21A EXON Nonsense_R174X,Nonsense_R174X exm260303 2 208478012 [T/G] NM_001127395,NM_145280 METTL21A,METTL21A EXON Missense_L139M,Missense_L139M exm260313 2 208486539 [G/C] NM_001127395,NM_145280 METTL21A,METTL21A EXON Missense_A84P,Missense_A84P exm260316 2 208486581 [T/C] NM_001127395,NM_145280 METTL21A,METTL21A EXON Missense_V70M,Missense_V70M exm2265265 2 208520043 [A/G] exm260337 2 208589581 [A/G] NM_001142300,NM_152523 CCNYL1,CCNYL1 EXON Missense_S93N,Missense_S23N exm260363 2 208618400 [A/G] NM_001142300,NM_152523 CCNYL1,CCNYL1 EXON Missense_R302H,Missense_R283H exm260401 2 208632817 [A/G] NM_003468 FZD5 EXON Missense_P216L exm260410 2 208633009 [T/C] NM_003468 FZD5 EXON Missense_R152H exm260413 2 208633156 [G/C] NM_003468 FZD5 EXON Missense_P103R exm260416 2 208633326 [T/G] NM_003468 FZD5 EXON Nonsense_Y46X exm260434 2 208773279 [C/G] NM_001080475 PLEKHM3 EXON Missense_L637V exm260449 2 208841407 [T/C] NM_001080475 PLEKHM3 EXON Missense_R505Q exm260450 2 208841425 [A/G] NM_001080475 PLEKHM3 EXON Missense_T499M exm260467 2 208841875 [A/G] NM_001080475 PLEKHM3 EXON Missense_P349L exm260471 2 208841951 [T/A] NM_001080475 PLEKHM3 EXON Missense_S324T exm260472 2 208841954 [T/C] NM_001080475 PLEKHM3 EXON Missense_I323V exm260480 2 208842154 [A/G] NM_001080475 PLEKHM3 EXON Missense_T256M exm260481 2 208842185 [T/C] NM_001080475 PLEKHM3 EXON Missense_D246N exm260484 2 208842276 [G/C] NM_001080475 PLEKHM3 EXON Missense_K215N exm260499 2 208866200 [A/G] NM_001080475 PLEKHM3 EXON Missense_T55I exm260513 2 208986546 [T/C] NR_038437,NM_006891 LOC100507443,CRYGD EXON Silent,Missense_V126M exm260521 2 208986658 [G/C] NR_038437,NM_006891 LOC100507443,CRYGD EXON Silent,Missense_H88Q exm260558 2 208993135 [T/C] NR_038437,NM_020989 LOC100507443,CRYGC EXON Silent,Missense_S106N exm260561 2 208993172 [T/C] NR_038437,NM_020989 LOC100507443,CRYGC EXON Silent,Missense_E94K exm260564 2 208993181 [A/G] NR_038437,NM_020989 LOC100507443,CRYGC EXON Silent,Missense_R91W exm260565 2 208993196 [A/C] NR_038437,NM_020989 LOC100507443,CRYGC EXON Silent,Missense_V86F exm-rs2242073 2 208994045 [T/G] NR_038437,NM_020989 LOC100507443,CRYGC Silent,Silent exm260568 2 208994187 [T/C] NR_038437,NM_020989 LOC100507443,CRYGC EXON Silent,Missense_R77H exm260573 2 208994253 [T/C] NR_038437,NM_020989 LOC100507443,CRYGC EXON Silent,Missense_Q55R exm260575 2 208994274 [T/C] NR_038437,NM_020989 LOC100507443,CRYGC EXON Silent,Missense_R48H exm260578 2 208994307 [T/C] NR_038437,NM_020989 LOC100507443,CRYGC EXON Silent,Missense_R37Q exm260601 2 209007544 [G/C] NR_038437,NM_005210 LOC100507443,CRYGB EXON Silent,Missense_R116G exm260602 2 209007559 [T/G] NR_038437,NM_005210 LOC100507443,CRYGB EXON Silent,Missense_I111L exm260611 2 209010499 [A/G] NR_038437,NM_005210 LOC100507443,CRYGB EXON Silent,Missense_P84L exm260614 2 209010569 [T/C] NR_038437,NM_005210 LOC100507443,CRYGB EXON Silent,Missense_G61R exm260615 2 209010571 [T/C] NR_038437,NM_005210 LOC100507443,CRYGB EXON Silent,Missense_R60H exm260616 2 209010575 [A/G] NR_038437,NM_005210 LOC100507443,CRYGB EXON Silent,Missense_R59W exm260632 2 209025583 [A/C] NM_014617 CRYGA EXON Missense_W157L exm260634 2 209025608 [T/C] NM_014617 CRYGA EXON Missense_G149R exm260642 2 209025758 [A/G] NM_014617 CRYGA EXON Nonsense_R99X exm260649 2 209027941 [T/C] NM_014617 CRYGA EXON Missense_R80H exm260660 2 209028039 [G/C] NM_014617 CRYGA EXON Missense_E47D exm260668 2 209028127 [A/T] NM_014617 CRYGA EXON Missense_N18I exm260670 2 209028152 [A/G] NM_014617 CRYGA EXON Nonsense_R10X exm260690 2 209035751 [A/G] NM_001099334 C2orf80 EXON Missense_A164V exm260693 2 209036712 [T/C] NM_001099334 C2orf80 EXON Missense_S152G exm260694 2 209036720 [T/C] NM_001099334 C2orf80 EXON Missense_R149H exm260697 2 209036778 [A/G] NM_001099334 C2orf80 EXON Missense_C130R exm260698 2 209036792 [T/C] NM_001099334 C2orf80 EXON Missense_R125Q exm1996061 2 209036795 [G/C] NM_001099334 C2orf80 EXON Missense_P124R exm260702 2 209045508 [A/C] NM_001099334 C2orf80 EXON Missense_I109M exm260703 2 209045523 [G/C] NM_001099334 C2orf80 EXON Missense_E104D exm260709 2 209045983 [A/G] NM_001099334 C2orf80 EXON Nonsense_R85X exm260710 2 209045991 [T/C] NM_001099334 C2orf80 EXON Missense_R82H exm260718 2 209051669 [T/C] NM_001099334 C2orf80 Silent exm2261159 2 209087335 [A/C] exm260737 2 209106854 [A/C] NM_005896 IDH1 EXON Missense_Q238H exm260744 2 209108284 [T/C] NM_005896 IDH1 EXON Missense_I189V exm260746 2 209108317 [T/C] NM_005896 IDH1 EXON Missense_V178I exm260781 2 209138313 [A/G] NM_015040,NM_001178000,NM_152671 PIKFYVE,PIKFYVE,PIKFYVE EXON Missense_A60T,Missense_A60T,Missense_A60T exm260784 2 209138368 [A/T] NM_015040,NM_001178000,NM_152671 PIKFYVE,PIKFYVE,PIKFYVE EXON Missense_Q78L,Missense_Q78L,Missense_Q78L exm260841 2 209179036 [A/G] NM_015040 PIKFYVE EXON Missense_R572Q exm260843 2 209179939 [A/G] NM_015040 PIKFYVE EXON Missense_M617V exm260848 2 209180044 [A/G] NM_015040 PIKFYVE EXON Missense_V652I exm260856 2 209182628 [A/G] NM_015040 PIKFYVE EXON Missense_N682S exm260859 2 209184980 [A/G] NM_015040 PIKFYVE EXON Missense_S696N exm260868 2 209189755 [T/C] NM_015040 PIKFYVE EXON Missense_P818S exm260870 2 209190084 [T/C] NM_015040 PIKFYVE EXON Missense_A850V exm260871 2 209190110 [A/G] NM_015040 PIKFYVE EXON Missense_M859V exm260875 2 209190170 [A/G] NM_015040 PIKFYVE EXON Missense_M879V exm260877 2 209190217 [C/G] NM_015040 PIKFYVE EXON Missense_E894D exm260881 2 209190330 [T/C] NM_015040 PIKFYVE EXON Missense_L932S exm260887 2 209190416 [A/G] NM_015040 PIKFYVE EXON Missense_T961A exm260895 2 209190528 [G/C] NM_015040 PIKFYVE EXON Missense_T998S exm260899 2 209190632 [T/G] NM_015040 PIKFYVE EXON Missense_S1033A exm260901 2 209190701 [A/G] NM_015040 PIKFYVE EXON Missense_I1056V exm260912 2 209191082 [A/C] NM_015040 PIKFYVE EXON Missense_Q1183K exm260931 2 209198064 [A/G] NM_015040 PIKFYVE EXON Missense_N1330S exm260936 2 209200043 [T/C] NM_015040 PIKFYVE EXON Missense_R1386W exm260937 2 209200044 [A/G] NM_015040 PIKFYVE EXON Missense_R1386Q exm260942 2 209200539 [A/G] NM_015040 PIKFYVE EXON Missense_I1427V exm260951 2 209203253 [C/G] NM_015040 PIKFYVE EXON Missense_P1545A exm260957 2 209204243 [A/G] NM_015040 PIKFYVE EXON Missense_G1592R exm260963 2 209204738 [T/G] NM_015040 PIKFYVE EXON Missense_V1605G exm260965 2 209204794 [A/G] NM_015040 PIKFYVE EXON Missense_M1624V exm260984 2 209212748 [T/G] NM_015040 PIKFYVE Silent exm2236998 2 209215633 [A/G] NM_015040 PIKFYVE EXON Missense_R1858Q exm1996188 2 209215654 [T/C] NM_015040 PIKFYVE EXON Missense_A1865V exm261014 2 209271796 [A/G] NR_073601,NM_005048 PTH2R,PTH2R EXON Silent,Missense_V10I exm261020 2 209271844 [A/G] NR_073601,NM_005048 PTH2R,PTH2R Silent,Silent exm261029 2 209302328 [A/C] NR_073601,NM_005048 PTH2R,PTH2R EXON Silent,Nonsense_S82X exm261034 2 209302496 [T/C] NR_073601,NM_005048 PTH2R,PTH2R EXON Silent,Nonsense_R101X exm261038 2 209302522 [T/G] NR_073601,NM_005048 PTH2R,PTH2R EXON Silent,Missense_W109C exm261044 2 209307104 [T/C] NR_073601,NM_005048 PTH2R,PTH2R EXON Silent,Missense_R143C exm261046 2 209307161 [T/G] NR_073601,NM_005048 PTH2R,PTH2R EXON Silent,Missense_A162S exm261055 2 209308116 [A/G] NR_073601,NM_005048 PTH2R,PTH2R EXON Silent,Missense_V185M exm261059 2 209308231 [T/C] NR_073601,NM_005048 PTH2R,PTH2R EXON Silent,Missense_I223T exm261060 2 209308236 [T/G] NR_073601,NM_005048 PTH2R,PTH2R EXON Silent,Missense_A225S exm261068 2 209309610 [A/G] NR_073601,NM_005048 PTH2R,PTH2R EXON Silent,Nonsense_W284X exm2237001 2 209315474 [T/G] NR_073601,NM_005048 PTH2R,PTH2R EXON Silent,Missense_G285V exm2265266 2 209334978 [A/G] NR_073601,NM_005048 PTH2R,PTH2R Silent,Silent exm261084 2 209345820 [T/C] NR_073601,NM_005048 PTH2R,PTH2R EXON Silent,Missense_T336M exm261086 2 209345847 [T/G] NR_073601,NM_005048 PTH2R,PTH2R EXON Silent,Missense_W345L exm1996221 2 209345862 [T/C] NR_073601,NM_005048 PTH2R,PTH2R EXON Silent,Missense_V350A exm2254927 2 209353797 [T/C] NR_073601,NM_005048 PTH2R,PTH2R EXON Silent,Synonymous_F379F exm261104 2 209358034 [A/G] NR_073601,NM_005048 PTH2R,PTH2R EXON Silent,Missense_V435M exm261109 2 209358139 [T/C] NR_073601,NM_005048 PTH2R,PTH2R EXON Silent,Missense_R470C exm261116 2 209358262 [A/G] NR_073601,NM_005048 PTH2R,PTH2R EXON Silent,Missense_E511K exm261117 2 209358271 [A/G] NR_073601,NM_005048 PTH2R,PTH2R EXON Silent,Missense_K514E exm261124 2 209358383 [T/G] NR_073601,NM_005048 PTH2R,PTH2R EXON Silent,Missense_X551L exm2263924 2 210208746 [A/C] exm2261160 2 210308543 [T/C] NM_001039538 MAP2 Silent exm261216 2 210517947 [T/C] NM_001039538,NM_031845,NM_002374,NM_031847 MAP2,MAP2,MAP2,MAP2 EXON Missense_P18L,Missense_P18L,Missense_P18L,Missense_P18L exm261227 2 210518007 [A/G] NM_001039538,NM_031845,NM_002374,NM_031847 MAP2,MAP2,MAP2,MAP2 EXON Missense_G38E,Missense_G38E,Missense_G38E,Missense_G38E exm1996236 2 210518027 [A/G] NM_001039538,NM_031845,NM_002374,NM_031847 MAP2,MAP2,MAP2,MAP2 EXON Missense_A45T,Missense_A45T,Missense_A45T,Missense_A45T exm261230 2 210518057 [A/G] NM_001039538,NM_031845,NM_002374,NM_031847 MAP2,MAP2,MAP2,MAP2 EXON Missense_E55K,Missense_E55K,Missense_E55K,Missense_E55K exm2237003 2 210518139 [G/C] NM_001039538,NM_031845,NM_002374,NM_031847 MAP2,MAP2,MAP2,MAP2 EXON Missense_A82G,Missense_A82G,Missense_A82G,Missense_A82G exm261235 2 210543361 [A/C] NM_001039538,NM_031845,NM_002374,NM_031847 MAP2,MAP2,MAP2,MAP2 EXON Missense_Q110K,Missense_Q110K,Missense_Q110K,Missense_Q110K exm261250 2 210557430 [A/G] NM_001039538,NM_031845,NM_002374,NM_031847 MAP2,MAP2,MAP2,MAP2 EXON Silent,Silent,Missense_E179G,Silent exm261253 2 210557565 [T/C] NM_001039538,NM_031845,NM_002374,NM_031847 MAP2,MAP2,MAP2,MAP2 EXON Silent,Silent,Missense_A224V,Silent exm261265 2 210557879 [A/G] NM_001039538,NM_031845,NM_002374,NM_031847 MAP2,MAP2,MAP2,MAP2 EXON Silent,Silent,Missense_M329V,Silent exm261271 2 210558113 [T/G] NM_001039538,NM_031845,NM_002374,NM_031847 MAP2,MAP2,MAP2,MAP2 EXON Silent,Silent,Missense_V407F,Silent exm261273 2 210558134 [T/G] NM_001039538,NM_031845,NM_002374,NM_031847 MAP2,MAP2,MAP2,MAP2 EXON Silent,Silent,Missense_A414S,Silent exm261274 2 210558162 [A/G] NM_001039538,NM_031845,NM_002374,NM_031847 MAP2,MAP2,MAP2,MAP2 EXON Silent,Silent,Missense_R423K,Silent exm1996251 2 210558236 [A/G] NM_001039538,NM_031845,NM_002374,NM_031847 MAP2,MAP2,MAP2,MAP2 EXON Silent,Silent,Missense_T448A,Silent exm261277 2 210558299 [A/G] NM_001039538,NM_031845,NM_002374,NM_031847 MAP2,MAP2,MAP2,MAP2 EXON Silent,Silent,Missense_E469K,Silent exm261279 2 210558391 [C/G] NM_001039538,NM_031845,NM_002374,NM_031847 MAP2,MAP2,MAP2,MAP2 EXON Silent,Silent,Missense_F499L,Silent exm1996253 2 210558395 [A/G] NM_001039538,NM_031845,NM_002374,NM_031847 MAP2,MAP2,MAP2,MAP2 EXON Silent,Silent,Missense_V501I,Silent exm261296 2 210559050 [A/G] NM_001039538,NM_031845,NM_002374,NM_031847 MAP2,MAP2,MAP2,MAP2 EXON Silent,Silent,Missense_G719D,Silent exm261297 2 210559148 [T/G] NM_001039538,NM_031845,NM_002374,NM_031847 MAP2,MAP2,MAP2,MAP2 EXON Silent,Silent,Missense_A752S,Silent exm261300 2 210559187 [A/G] NM_001039538,NM_031845,NM_002374,NM_031847 MAP2,MAP2,MAP2,MAP2 EXON Silent,Silent,Missense_E765K,Silent exm261302 2 210559239 [T/C] NM_001039538,NM_031845,NM_002374,NM_031847 MAP2,MAP2,MAP2,MAP2 EXON Silent,Silent,Missense_A782V,Silent exm261334 2 210559865 [A/G] NM_001039538,NM_031845,NM_002374,NM_031847 MAP2,MAP2,MAP2,MAP2 EXON Silent,Silent,Missense_G991R,Silent exm261339 2 210559902 [T/A] NM_001039538,NM_031845,NM_002374,NM_031847 MAP2,MAP2,MAP2,MAP2 EXON Silent,Silent,Missense_D1003V,Silent exm261340 2 210559913 [A/C] NM_001039538,NM_031845,NM_002374,NM_031847 MAP2,MAP2,MAP2,MAP2 EXON Silent,Silent,Missense_P1007T,Silent exm261345 2 210559974 [A/G] NM_001039538,NM_031845,NM_002374,NM_031847 MAP2,MAP2,MAP2,MAP2 EXON Silent,Silent,Missense_E1027G,Silent exm261348 2 210560172 [T/G] NM_001039538,NM_031845,NM_002374,NM_031847 MAP2,MAP2,MAP2,MAP2 EXON Silent,Silent,Missense_G1093V,Silent exm261350 2 210560189 [A/G] NM_001039538,NM_031845,NM_002374,NM_031847 MAP2,MAP2,MAP2,MAP2 EXON Silent,Silent,Missense_M1099V,Silent exm261351 2 210560204 [A/C] NM_001039538,NM_031845,NM_002374,NM_031847 MAP2,MAP2,MAP2,MAP2 EXON Silent,Silent,Missense_K1104Q,Silent exm261366 2 210560565 [T/C] NM_001039538,NM_031845,NM_002374,NM_031847 MAP2,MAP2,MAP2,MAP2 EXON Silent,Silent,Missense_T1224M,Silent exm261369 2 210560645 [T/C] NM_001039538,NM_031845,NM_002374,NM_031847 MAP2,MAP2,MAP2,MAP2 EXON Silent,Silent,Missense_R1251C,Silent exm261370 2 210560646 [A/G] NM_001039538,NM_031845,NM_002374,NM_031847 MAP2,MAP2,MAP2,MAP2 EXON Silent,Silent,Missense_R1251H,Silent exm261379 2 210560895 [A/G] NM_001039538,NM_031845,NM_002374,NM_031847 MAP2,MAP2,MAP2,MAP2 EXON Silent,Silent,Missense_E1334G,Silent exm261380 2 210560925 [A/C] NM_001039538,NM_031845,NM_002374,NM_031847 MAP2,MAP2,MAP2,MAP2 EXON Silent,Silent,Missense_K1344T,Silent exm261399 2 210569250 [T/C] NM_001039538,NM_031845,NM_002374,NM_031847 MAP2,MAP2,MAP2,MAP2 EXON Missense_T198M,Silent,Silent,Silent exm261400 2 210569277 [G/C] NM_001039538,NM_031845,NM_002374,NM_031847 MAP2,MAP2,MAP2,MAP2 EXON Missense_S207T,Silent,Silent,Silent exm261403 2 210569316 [A/G] NM_001039538,NM_031845,NM_002374,NM_031847 MAP2,MAP2,MAP2,MAP2 EXON Missense_R220H,Silent,Silent,Silent exm261438 2 210595099 [T/C] NM_001039538,NM_031845,NM_002374,NM_031847 MAP2,MAP2,MAP2,MAP2 EXON Missense_A553V,Missense_A465V,Missense_A1821V,Missense_A496V exm261443 2 210637818 [T/G] NM_032504,NM_182587 UNC80,UNC80 EXON Missense_S31R,Missense_S31R exm261449 2 210640771 [T/C] NM_032504,NM_182587 UNC80,UNC80 Silent,Silent exm261452 2 210642074 [T/C] NM_032504,NM_182587 UNC80,UNC80 EXON Missense_R131W,Missense_R131W exm261455 2 210642087 [T/C] NM_032504,NM_182587 UNC80,UNC80 EXON Missense_T135I,Missense_T135I exm261469 2 210658485 [C/G] NM_032504,NM_182587 UNC80,UNC80 EXON Missense_I280M,Missense_I280M exm261473 2 210658579 [T/G] NM_032504,NM_182587 UNC80,UNC80 EXON Missense_S312A,Missense_S312A exm261485 2 210680093 [T/C] NM_032504,NM_182587 UNC80,UNC80 EXON Missense_L438P,Missense_L438P exm261493 2 210682568 [T/G] NM_032504,NM_182587 UNC80,UNC80 EXON Missense_A529S,Missense_A529S exm261501 2 210685078 [C/G] NM_032504,NM_182587 UNC80,UNC80 EXON Missense_S669T,Missense_S669T exm261505 2 210685303 [A/G] NM_032504,NM_182587 UNC80,UNC80 EXON Missense_E744G,Missense_E744G exm261511 2 210690688 [A/G] NM_032504,NM_182587 UNC80,UNC80 EXON Missense_V797M,Missense_V797M exm261529 2 210707088 [T/G] NM_032504,NM_182587 UNC80,UNC80 EXON Missense_S1126R,Missense_S1121R exm261530 2 210707144 [A/C] NM_032504,NM_182587 UNC80,UNC80 EXON Missense_E1145A,Missense_E1140A exm261537 2 210742763 [T/C] NM_032504,NM_182587 UNC80,UNC80 EXON Missense_T1311I,Missense_T1306I exm2237010 2 210769670 [A/G] NM_032504,NM_182587 UNC80,UNC80 EXON Missense_R1522Q,Missense_R1517Q exm261569 2 210798699 [G/C] NM_032504,NM_182587 UNC80,UNC80 EXON Missense_V1984L,Missense_V1979L exm261580 2 210806019 [A/G] NM_032504,NM_182587 UNC80,UNC80 EXON Missense_G2175S,Missense_G2170S exm2254932 2 210810644 [A/G] NM_032504,NM_182587 UNC80,UNC80 EXON Synonymous_A2355A,Synonymous_A2350A exm261610 2 210837868 [A/G] NM_032504,NM_182587 UNC80,UNC80 EXON Missense_S2755G,Missense_S2750G exm261611 2 210837935 [T/C] NM_032504,NM_182587 UNC80,UNC80 EXON Missense_A2777V,Missense_A2772V exm2269211 2 210849283 [T/C] NM_032504,NM_182587 UNC80,UNC80 Silent,Silent exm261627 2 210858145 [T/C] NM_032504,NM_182587 UNC80,UNC80 EXON Missense_P3102L,Missense_P3078L exm261631 2 210858894 [C/G] NM_032504,NM_182587 UNC80,UNC80 EXON Missense_A3139G,Missense_A3115G exm261634 2 210860096 [G/C] NM_032504,NM_182587 UNC80,UNC80 EXON Missense_T3185R,Missense_T3161R exm261635 2 210860104 [A/C] NM_032504,NM_182587 UNC80,UNC80 EXON Missense_Q3188K,Missense_Q3164K exm261655 2 210880810 [A/G] NM_006916,NM_199229 RPE,RPE EXON Missense_K38E,Missense_K106E exm261680 2 210887734 [T/C] NM_152519 KANSL1L EXON Missense_D968G exm261681 2 210887737 [A/G] NM_152519 KANSL1L EXON Missense_S967L exm2254934 2 210887751 [A/G] NM_152519 KANSL1L EXON Synonymous_H962H exm261701 2 210892066 [A/G] NM_152519 KANSL1L EXON Missense_M802T exm261702 2 210893584 [T/G] NM_152519 KANSL1L EXON Missense_E794A exm261704 2 210893623 [A/G] NM_152519 KANSL1L EXON Missense_L781S exm261712 2 210894597 [A/G] NM_152519 KANSL1L EXON Missense_S734L exm261720 2 210896248 [A/C] NM_152519 KANSL1L EXON Missense_W684C exm261728 2 210905194 [T/C] NM_152519 KANSL1L EXON Missense_N660S exm261740 2 210940301 [G/C] NM_152519 KANSL1L EXON Missense_S577T exm1996342 2 210940425 [T/C] NM_152519 KANSL1L EXON Missense_K536E exm261748 2 210962846 [A/C] NM_152519 KANSL1L EXON Missense_C505F exm261762 2 210993868 [A/C] NM_152519 KANSL1L EXON Missense_V373L exm261768 2 211018334 [T/C] NM_152519 KANSL1L EXON Missense_A325T exm261769 2 211018343 [T/G] NM_152519 KANSL1L EXON Missense_Q322K exm261770 2 211018363 [T/C] NM_152519 KANSL1L EXON Missense_R315Q exm261775 2 211018534 [T/C] NM_152519 KANSL1L EXON Missense_G258D exm261779 2 211018643 [T/C] NM_152519 KANSL1L EXON Missense_A222T exm261781 2 211018702 [A/G] NM_152519 KANSL1L EXON Missense_P202L exm261805 2 211060050 [T/G] NM_001608 ACADL EXON Missense_K333Q exm261806 2 211060055 [T/C] NM_001608 ACADL EXON Missense_Q331R exm261813 2 211069376 [A/G] NM_001608 ACADL EXON Missense_R267W exm261821 2 211070441 [T/C] NM_001608 ACADL EXON Missense_H228R exm1996375 2 211082773 [T/G] NM_001608 ACADL EXON Missense_Q96P exm261846 2 211085464 [A/G] NM_001608 ACADL EXON Missense_I47T exm261849 2 211085491 [A/G] NM_001608 ACADL EXON Missense_T38I exm261866 2 211159061 [T/C] NM_079420,NM_079422 MYL1,MYL1 EXON Missense_Y129C,Missense_Y85C exm261872 2 211163209 [T/C] NM_079420,NM_079422 MYL1,MYL1 EXON Missense_R80Q,Missense_R36Q exm261875 2 211163222 [T/C] NM_079420,NM_079422 MYL1,MYL1 EXON Missense_G76S,Missense_G32S exm261884 2 211167502 [T/G] NM_079420,NM_079422 MYL1,MYL1 EXON Silent,Missense_D6E exm261886 2 211167512 [A/C] NM_079420,NM_079422 MYL1,MYL1 EXON Silent,Missense_F3C exm261896 2 211179702 [A/G] NM_079420 MYL1 EXON Missense_P22L exm261899 2 211179729 [G/C] NM_079420 MYL1 EXON Missense_A13G exm261901 2 211179735 [A/G] NM_079420 MYL1 EXON Missense_V11A exm-rs1044710 2 211297355 [A/G] NM_001136575,NM_001136574,NM_006055 LANCL1,LANCL1,LANCL1 EXON Silent,Silent,Silent exm261914 2 211301068 [T/C] NM_001136575,NM_001136574,NM_006055 LANCL1,LANCL1,LANCL1 EXON Missense_V308M,Missense_V308M,Missense_V308M exm261918 2 211302452 [T/C] NM_001136575,NM_001136574,NM_006055 LANCL1,LANCL1,LANCL1 EXON Missense_A279T,Missense_A279T,Missense_A279T exm261920 2 211302479 [A/C] NM_001136575,NM_001136574,NM_006055 LANCL1,LANCL1,LANCL1 EXON Missense_D270Y,Missense_D270Y,Missense_D270Y exm261923 2 211302508 [T/C] NM_001136575,NM_001136574,NM_006055 LANCL1,LANCL1,LANCL1 EXON Missense_N260S,Missense_N260S,Missense_N260S exm261931 2 211305413 [A/G] NM_001136575,NM_001136574,NM_006055 LANCL1,LANCL1,LANCL1 EXON Missense_T200M,Missense_T200M,Missense_T200M exm261934 2 211306083 [A/C] NM_001136575,NM_001136574,NM_006055 LANCL1,LANCL1,LANCL1 EXON Missense_F164L,Missense_F164L,Missense_F164L exm2237016 2 211306091 [A/G] NM_001136575,NM_001136574,NM_006055 LANCL1,LANCL1,LANCL1 EXON Missense_L162F,Missense_L162F,Missense_L162F exm261937 2 211306111 [T/C] NM_001136575,NM_001136574,NM_006055 LANCL1,LANCL1,LANCL1 EXON Missense_R155Q,Missense_R155Q,Missense_R155Q exm261940 2 211306135 [T/G] NM_001136575,NM_001136574,NM_006055 LANCL1,LANCL1,LANCL1 EXON Missense_A147D,Missense_A147D,Missense_A147D exm1996406 2 211306138 [T/G] NM_001136575,NM_001136574,NM_006055 LANCL1,LANCL1,LANCL1 EXON Missense_H146P,Missense_H146P,Missense_H146P exm261944 2 211306161 [A/C] NM_001136575,NM_001136574,NM_006055 LANCL1,LANCL1,LANCL1 EXON Missense_I138M,Missense_I138M,Missense_I138M exm261958 2 211320037 [A/C] NM_001136575,NM_001136574,NM_006055 LANCL1,LANCL1,LANCL1 EXON Synonymous_G67G,Synonymous_G67G,Synonymous_G67G exm261990 2 211421452 [T/A] NM_001122633,NM_001875 CPS1,CPS1 EXON Missense_I5F,Silent exm261992 2 211421462 [T/C] NM_001122633,NM_001875 CPS1,CPS1 EXON Missense_T8M,Missense_T2M exm261996 2 211421531 [A/C] NM_001122633,NM_001875 CPS1,CPS1 EXON Missense_A31E,Missense_A25E exm261999 2 211438049 [A/G] NM_001122633,NM_001875 CPS1,CPS1 EXON Missense_D58N,Missense_D52N exm262010 2 211442212 [A/G] NM_001122633,NM_001875 CPS1,CPS1 EXON Missense_G156E,Missense_G150E exm1996422 2 211444453 [A/G] NM_001122633,NM_001875 CPS1,CPS1 EXON Missense_G169R,Missense_G163R exm262020 2 211452797 [A/G] NM_001122633,NM_001875 CPS1,CPS1 EXON Missense_G219S,Missense_G213S exm262022 2 211454831 [A/G] NM_001122633,NM_001875 CPS1,CPS1 EXON Missense_R244Q,Missense_R238Q exm262039 2 211456628 [T/G] NM_001122633,NM_001875 CPS1,CPS1 EXON Missense_L347V,Missense_L341V exm262040 2 211456637 [A/G] NM_001122633,NM_001875 CPS1,CPS1 EXON Missense_T350A,Missense_T344A exm262042 2 211456646 [T/G] NM_001122633,NM_001875 CPS1,CPS1 EXON Missense_A353S,Missense_A347S exm262053 2 211457670 [T/C] NM_001122633,NM_001875 CPS1,CPS1 EXON Missense_I391T,Missense_I385T exm262056 2 211459281 [A/C] NM_001122633,NM_001875,NM_001122634 CPS1,CPS1,CPS1 EXON Missense_T411N,Missense_T405N,Silent exm262068 2 211465359 [A/T] NM_001122633,NM_001875,NM_001122634 CPS1,CPS1,CPS1 EXON Missense_T550S,Missense_T544S,Missense_T93S exm262072 2 211466932 [A/G] NM_001122633,NM_001875,NM_001122634 CPS1,CPS1,CPS1 EXON Missense_D578N,Missense_D572N,Missense_D121N exm262080 2 211469907 [T/G] NM_001122633,NM_001875,NM_001122634 CPS1,CPS1,CPS1 EXON Missense_A646S,Missense_A640S,Missense_A189S exm262086 2 211471518 [A/G] NM_001122633,NM_001875,NM_001122634 CPS1,CPS1,CPS1 EXON Missense_R688H,Missense_R682H,Missense_R231H exm262099 2 211473167 [A/T] NM_001122633,NM_001875,NM_001122634 CPS1,CPS1,CPS1 EXON Missense_S765T,Missense_S759T,Missense_S308T exm1996466 2 211481223 [A/G] NM_001122633,NM_001875,NM_001122634 CPS1,CPS1,CPS1 EXON Missense_R888H,Missense_R882H,Missense_R431H exm262117 2 211502434 [T/C] NM_001122633,NM_001875,NM_001122634 CPS1,CPS1,CPS1 EXON Missense_M905T,Missense_M899T,Missense_M448T exm1996467 2 211502509 [C/G] NM_001122633,NM_001875,NM_001122634 CPS1,CPS1,CPS1 EXON Missense_T930S,Missense_T924S,Missense_T473S exm262125 2 211504733 [A/G] NM_001122633,NM_001875,NM_001122634 CPS1,CPS1,CPS1 EXON Missense_N976S,Missense_N970S,Missense_N519S exm262131 2 211507277 [T/C] NM_001122633,NM_001875,NM_001122634 CPS1,CPS1,CPS1 EXON Missense_T1016M,Missense_T1010M,Missense_T559M exm2261161 2 211508287 [A/G] NM_001122633,NM_001875,NM_001122634 CPS1,CPS1,CPS1 Silent,Silent,Silent exm262140 2 211513215 [A/G] NM_001122633,NM_001875,NM_001122634 CPS1,CPS1,CPS1 EXON Missense_A1125T,Missense_A1119T,Missense_A668T exm262152 2 211521316 [T/C] NM_001122633,NM_001875,NM_001122634 CPS1,CPS1,CPS1 EXON Missense_M1215T,Missense_M1209T,Missense_M758T exm262153 2 211521333 [A/G] NM_001122633,NM_001875,NM_001122634 CPS1,CPS1,CPS1 EXON Missense_I1221V,Missense_I1215V,Missense_I764V exm262156 2 211523343 [T/G] NM_001122633,NM_001875,NM_001122634 CPS1,CPS1,CPS1 EXON Missense_K1235N,Missense_K1229N,Missense_K778N exm262165 2 211539650 [A/G] NM_001122633,NM_001875,NM_001122634 CPS1,CPS1,CPS1 EXON Missense_G1382S,Missense_G1376S,Missense_G925S exm262167 2 211539685 [A/G] NM_001122633,NM_001875,NM_001122634 CPS1,CPS1,CPS1 EXON Synonymous_K1393K,Synonymous_K1387K,Synonymous_K936K exm262177 2 211540527 [G/C] NM_001122633,NM_001875,NM_001122634 CPS1,CPS1,CPS1 EXON Missense_Q1419E,Missense_Q1413E,Missense_Q962E exm262178 2 211540542 [T/C] NM_001122633,NM_001875,NM_001122634 CPS1,CPS1,CPS1 EXON Missense_P1424S,Missense_P1418S,Missense_P967S exm2269212 2 211648806 [T/C] exm2269213 2 212165522 [T/C] exm262195 2 212248521 [A/G] NM_005235,NM_001042599 ERBB4,ERBB4 EXON Missense_P1249L,Missense_P1233L exm262209 2 212251725 [A/G] NM_005235,NM_001042599 ERBB4,ERBB4 EXON Missense_R1112C,Missense_R1096C exm262213 2 212251859 [T/C] NM_005235,NM_001042599 ERBB4,ERBB4 EXON Missense_R1067Q,Missense_R1051Q exm2261162 2 212296470 [T/C] NM_005235,NM_001042599 ERBB4,ERBB4 Silent,Silent exm262256 2 212488647 [T/C] NM_005235,NM_001042599 ERBB4,ERBB4 EXON Synonymous_K734K,Synonymous_K734K exm2237030 2 212495294 [T/A] NM_005235,NM_001042599 ERBB4,ERBB4 EXON Missense_I658F,Missense_I658F exm262275 2 212537896 [T/C] NM_005235,NM_001042599 ERBB4,ERBB4 EXON Missense_H570R,Missense_H570R exm262281 2 212537978 [T/A] NM_005235,NM_001042599 ERBB4,ERBB4 EXON Missense_F543I,Missense_F543I exm262289 2 212566786 [T/G] NM_005235,NM_001042599 ERBB4,ERBB4 EXON Missense_N465K,Missense_N465K exm262302 2 212576777 [A/C] NM_005235,NM_001042599 ERBB4,ERBB4 EXON Missense_H374Q,Missense_H374Q exm262310 2 212587118 [A/G] NM_005235,NM_001042599 ERBB4,ERBB4 EXON Missense_H295Y,Missense_H295Y exm262311 2 212587119 [T/C] NM_005235,NM_001042599 ERBB4,ERBB4 EXON Synonymous_P294P,Synonymous_P294P exm262319 2 212589898 [T/G] NM_005235,NM_001042599 ERBB4,ERBB4 EXON Missense_E215A,Missense_E215A exm262326 2 212652803 [T/C] NM_005235,NM_001042599 ERBB4,ERBB4 EXON Missense_R168Q,Missense_R168Q exm2265268 2 212807645 [A/G] NM_005235,NM_001042599 ERBB4,ERBB4 Silent,Silent exm262334 2 212812317 [A/C] NM_005235,NM_001042599 ERBB4,ERBB4 EXON Missense_V87L,Missense_V87L exm2261163 2 212882190 [T/C] NM_005235,NM_001042599 ERBB4,ERBB4 Silent,Silent exm2265269 2 213103721 [A/G] NM_005235,NM_001042599 ERBB4,ERBB4 Silent,Silent exm2265270 2 213575506 [A/G] exm2269214 2 213858069 [T/C] exm262353 2 213872261 [A/C] NM_001079526,NM_016260 IKZF2,IKZF2 EXON Missense_I442M,Missense_I468M exm262375 2 213872807 [T/C] NM_001079526,NM_016260 IKZF2,IKZF2 EXON Synonymous_G260G,Synonymous_G286G exm262385 2 213886748 [T/C] NM_001079526,NM_016260 IKZF2,IKZF2 EXON Missense_M201I,Missense_M227I exm262390 2 213886830 [T/C] NM_001079526,NM_016260 IKZF2,IKZF2 EXON Missense_Y174C,Missense_Y200C exm262402 2 213921647 [A/G] NM_001079526,NM_016260 IKZF2,IKZF2 EXON Missense_R106W,Missense_R106W exm262404 2 213921685 [T/C] NM_001079526,NM_016260 IKZF2,IKZF2 EXON Missense_N93S,Missense_N93S exm2261164 2 213986695 [A/G] NM_001079526,NM_016260 IKZF2,IKZF2 Silent,Silent exm262420 2 214012467 [T/C] NM_001079526,NM_016260 IKZF2,IKZF2 EXON Missense_N35S,Missense_N35S exm262425 2 214012516 [T/C] NM_001079526,NM_016260 IKZF2,IKZF2 EXON Missense_E19K,Missense_E19K exm262427 2 214013321 [T/C] NM_001079526,NM_016260 IKZF2,IKZF2 EXON Synonymous_T11T,Synonymous_T11T exm262429 2 214013337 [A/G] NM_001079526,NM_016260 IKZF2,IKZF2 EXON Missense_I6T,Missense_I6T exm262440 2 214160817 [A/G] NR_047659,NR_047660,NM_024532,NM_001025436 SPAG16,SPAG16,SPAG16,SPAG16 EXON Silent,Silent,Missense_D56N,Missense_D56N exm262444 2 214161989 [A/C] NR_047659,NR_047660,NM_024532,NM_001025436 SPAG16,SPAG16,SPAG16,SPAG16 EXON Silent,Silent,Missense_P63T,Missense_P63T exm262451 2 214174786 [T/C] NR_047659,NR_047660,NM_024532,NM_001025436 SPAG16,SPAG16,SPAG16,SPAG16 EXON Silent,Silent,Missense_R95W,Missense_R95W exm262463 2 214204924 [T/C] NR_047659,NR_047660,NM_024532 SPAG16,SPAG16,SPAG16 EXON Silent,Silent,Missense_R192C exm262464 2 214204937 [A/G] NR_047659,NR_047660,NM_024532 SPAG16,SPAG16,SPAG16 EXON Silent,Silent,Missense_R196Q exm262465 2 214204951 [T/C] NR_047659,NR_047660,NM_024532 SPAG16,SPAG16,SPAG16 EXON Silent,Silent,Nonsense_R201X exm262481 2 214354685 [A/G] NR_047659,NR_047660,NM_024532 SPAG16,SPAG16,SPAG16 Silent,Silent,Silent exm262483 2 214354714 [A/C] NR_047659,NR_047660,NM_024532 SPAG16,SPAG16,SPAG16 EXON Silent,Silent,Missense_P324T exm262486 2 214354811 [A/G] NR_047659,NR_047660,NM_024532 SPAG16,SPAG16,SPAG16 EXON Silent,Silent,Missense_S356N exm2269215 2 214563795 [T/C] NR_047659,NR_047660,NM_024532 SPAG16,SPAG16,SPAG16 Silent,Silent,Silent exm262489 2 214727221 [A/C] NR_047659,NR_047660,NM_024532 SPAG16,SPAG16,SPAG16 EXON Silent,Silent,Missense_Q361H exm262503 2 214794743 [A/C] NR_047659,NR_047660,NM_024532 SPAG16,SPAG16,SPAG16 EXON Silent,Silent,Missense_K425T exm262504 2 214794748 [A/G] NR_047659,NR_047660,NM_024532 SPAG16,SPAG16,SPAG16 EXON Silent,Silent,Missense_D427N exm1996806 2 214794866 [A/G] NR_047659,NR_047660,NM_024532 SPAG16,SPAG16,SPAG16 EXON Silent,Silent,Missense_N466S exm2265271 2 214867770 [A/G] NR_047659,NR_047660,NM_024532 SPAG16,SPAG16,SPAG16 Silent,Silent,Silent exm262526 2 215013918 [T/C] NR_047659,NR_047660,NM_024532 SPAG16,SPAG16,SPAG16 EXON Silent,Silent,Missense_R550W exm2263964 2 215235867 [A/C] NR_047659,NR_047660,NM_024532 SPAG16,SPAG16,SPAG16 Silent,Silent,Silent exm262529 2 215274963 [A/G] NR_047659,NR_047660,NM_024532 SPAG16,SPAG16,SPAG16 EXON Silent,Silent,Missense_H607R exm262531 2 215275026 [A/G] NR_047659,NR_047660,NM_024532 SPAG16,SPAG16,SPAG16 EXON Silent,Silent,Missense_R628Q exm262534 2 215278935 [A/T] NM_001080500 VWC2L EXON Missense_H6Q exm262538 2 215279176 [A/C] NM_001080500 VWC2L EXON Missense_Q87K exm2263926 2 215502000 [A/C] exm262553 2 215593452 [T/C] NM_000465 BARD1 EXON Missense_S761N exm262556 2 215593522 [T/C] NM_000465 BARD1 EXON Missense_I738V exm262557 2 215593543 [G/C] NM_000465 BARD1 EXON Missense_R731G exm262567 2 215593618 [T/C] NM_000465 BARD1 EXON Missense_K706E exm262575 2 215595203 [A/G] NM_000465 BARD1 EXON Missense_C645R exm262583 2 215610518 [T/C] NM_000465 BARD1 EXON Missense_E580K exm262584 2 215610562 [T/C] NM_000465 BARD1 EXON Missense_R565H exm262588 2 215617178 [G/C] NM_000465 BARD1 EXON Missense_C557S exm2237038 2 215617275 [T/C] NM_000465 BARD1 EXON Missense_I525V exm262595 2 215632255 [T/C] NM_000465 BARD1 EXON Missense_V507M exm-rs3768716 2 215635794 [T/C] NM_000465 BARD1 Silent exm262616 2 215645393 [T/G] NM_000465 BARD1 EXON Nonsense_S402X exm262624 2 215645507 [A/G] NM_000465 BARD1 EXON Missense_S364L exm262625 2 215645508 [T/A] NM_000465 BARD1 EXON Missense_S364T exm262639 2 215645834 [T/C] NM_000465 BARD1 EXON Missense_N255S exm2237039 2 215645876 [G/C] NM_000465 BARD1 EXON Missense_S241C exm262642 2 215645882 [T/A] NM_000465 BARD1 EXON Missense_L239Q exm262643 2 215645930 [T/C] NM_000465 BARD1 EXON Missense_E223G exm262645 2 215645939 [A/G] NM_000465 BARD1 EXON Missense_L220S exm262647 2 215645978 [T/C] NM_000465 BARD1 EXON Missense_K207R exm262653 2 215657032 [T/C] NM_000465 BARD1 EXON Missense_N118S exm262655 2 215657039 [A/G] NM_000465 BARD1 EXON Missense_H116Y exm262656 2 215657077 [T/C] NM_000465 BARD1 EXON Missense_S103N exm262685 2 215797431 [T/C] NM_015657,NM_173076 ABCA12,ABCA12 EXON Missense_Y2254C,Missense_Y2572C exm262687 2 215798851 [A/G] NM_015657,NM_173076 ABCA12,ABCA12 EXON Missense_T2226I,Missense_T2544I exm262688 2 215798885 [T/C] NM_015657,NM_173076 ABCA12,ABCA12 EXON Missense_A2215T,Missense_A2533T exm262699 2 215813331 [T/C] NM_015657,NM_173076 ABCA12,ABCA12 EXON Missense_D2047N,Missense_D2365N exm2254946 2 215813784 [A/G] NM_015657,NM_173076 ABCA12,ABCA12 EXON Synonymous_I1996I,Synonymous_I2314I exm262704 2 215813807 [T/C] NM_015657,NM_173076 ABCA12,ABCA12 EXON Missense_I1989V,Missense_I2307V exm262712 2 215815751 [T/G] NM_015657,NM_173076 ABCA12,ABCA12 EXON Missense_E1917A,Missense_E2235A exm262714 2 215815807 [A/C] NM_015657,NM_173076 ABCA12,ABCA12 EXON Missense_R1898S,Missense_R2216S exm262716 2 215818614 [T/C] NM_015657,NM_173076 ABCA12,ABCA12 EXON Missense_R1886Q,Missense_R2204Q exm262729 2 215821412 [T/C] NM_015657,NM_173076 ABCA12,ABCA12 EXON Missense_V1752I,Missense_V2070I exm262735 2 215823042 [T/C] NM_015657,NM_173076 ABCA12,ABCA12 EXON Missense_G1708S,Missense_G2026S exm262740 2 215823139 [G/C] NM_015657,NM_173076 ABCA12,ABCA12 EXON Missense_I1675M,Missense_I1993M exm262747 2 215831605 [T/C] NM_015657,NM_173076 ABCA12,ABCA12 EXON Missense_V1633I,Missense_V1951I exm262761 2 215835070 [T/C] NM_015657,NM_173076 ABCA12,ABCA12 EXON Missense_V1555I,Missense_V1873I exm262764 2 215835111 [A/C] NM_015657,NM_173076 ABCA12,ABCA12 EXON Missense_F1541C,Missense_F1859C exm262772 2 215840509 [A/G] NM_015657,NM_173076 ABCA12,ABCA12 EXON Missense_A1476V,Missense_A1794V exm262784 2 215843041 [A/G] NM_015657,NM_173076 ABCA12,ABCA12 EXON Synonymous_D1391D,Synonymous_D1709D exm262787 2 215843082 [T/C] NM_015657,NM_173076 ABCA12,ABCA12 EXON Missense_D1378N,Missense_D1696N exm262795 2 215843583 [T/C] NM_015657,NM_173076 ABCA12,ABCA12 EXON Missense_G1323D,Missense_G1641D exm262802 2 215843715 [A/G] NM_015657,NM_173076 ABCA12,ABCA12 EXON Missense_A1279V,Missense_A1597V exm262822 2 215848503 [T/C] NM_015657,NM_173076 ABCA12,ABCA12 EXON Missense_R1099Q,Missense_R1417Q exm262823 2 215848504 [A/G] NM_015657,NM_173076 ABCA12,ABCA12 EXON Missense_R1099W,Missense_R1417W exm262833 2 215852398 [T/C] NM_015657,NM_173076 ABCA12,ABCA12 EXON Missense_M999V,Missense_M1317V exm262844 2 215854094 [A/C] NM_015657,NM_173076 ABCA12,ABCA12 EXON Missense_I945S,Missense_I1263S exm262853 2 215855569 [A/T] NM_015657,NM_173076 ABCA12,ABCA12 EXON Missense_M843L,Missense_M1161L exm262859 2 215855671 [T/C] NM_015657,NM_173076 ABCA12,ABCA12 EXON Missense_V809M,Missense_V1127M exm262874 2 215865663 [T/G] NM_015657,NM_173076 ABCA12,ABCA12 EXON Missense_K664T,Missense_K982T exm262880 2 215866326 [A/T] NM_015657,NM_173076 ABCA12,ABCA12 EXON Missense_E622V,Missense_E940V exm2275627 2 215868978 [C/G] NM_015657,NM_173076 ABCA12,ABCA12 EXON Missense_V562L,Missense_V880L exm262901 2 215876165 [A/G] NM_015657,NM_173076 ABCA12,ABCA12 EXON Missense_S459F,Missense_S777F exm262902 2 215876166 [T/A] NM_015657,NM_173076 ABCA12,ABCA12 EXON Missense_S459T,Missense_S777T exm262910 2 215876286 [T/C] NM_015657,NM_173076 ABCA12,ABCA12 EXON Missense_E419K,Missense_E737K exm262920 2 215876738 [T/G] NM_015657,NM_173076 ABCA12,ABCA12 EXON Missense_S375Y,Missense_S693Y exm262921 2 215876783 [T/C] NM_015657,NM_173076 ABCA12,ABCA12 EXON Missense_N360S,Missense_N678S exm262924 2 215880278 [T/C] NM_015657,NM_173076 ABCA12,ABCA12 EXON Missense_R313Q,Missense_R631Q exm262929 2 215882749 [T/G] NM_015657,NM_173076 ABCA12,ABCA12 EXON Missense_P271T,Missense_P589T exm262930 2 215882771 [C/G] NM_015657,NM_173076 ABCA12,ABCA12 EXON Missense_D263E,Missense_D581E exm1996974 2 215884068 [T/C] NM_015657,NM_173076 ABCA12,ABCA12 EXON Missense_E232G,Missense_E550G exm262934 2 215884092 [A/G] NM_015657,NM_173076 ABCA12,ABCA12 EXON Missense_V224A,Missense_V542A exm262938 2 215884364 [T/C] NM_015657,NM_173076 ABCA12,ABCA12 EXON Missense_E164K,Missense_E482K exm262948 2 215884432 [G/C] NM_015657,NM_173076 ABCA12,ABCA12 EXON Missense_S141T,Missense_S459T exm262963 2 215890462 [A/G] NM_015657,NM_173076 ABCA12,ABCA12 EXON Missense_S90P,Missense_S408P exm262967 2 215891583 [G/C] NM_015657,NM_173076 ABCA12,ABCA12 EXON Missense_V63L,Missense_V381L exm262972 2 215896602 [A/G] NM_015657,NM_173076 ABCA12,ABCA12 EXON Missense_T17M,Missense_T335M exm1996986 2 215901688 [A/G] NM_173076 ABCA12 EXON Missense_S325F exm262983 2 215910574 [G/C] NM_173076 ABCA12 EXON Missense_R287G exm262986 2 215910612 [T/C] NM_173076 ABCA12 EXON Missense_Q274R exm262990 2 215910724 [T/G] NM_173076 ABCA12 EXON Missense_N237H exm262995 2 215914416 [T/G] NM_173076 ABCA12 EXON Missense_K209N exm262997 2 215914462 [T/C] NM_173076 ABCA12 EXON Missense_D194G exm263003 2 215917233 [A/G] NM_173076 ABCA12 EXON Missense_A162V exm263007 2 215919350 [T/C] NM_173076 ABCA12 EXON Missense_S119N exm263014 2 215928910 [T/C] NM_173076 ABCA12 EXON Missense_G66R exm2269216 2 216129158 [T/G] exm263042 2 216184445 [A/G] NM_004044 ATIC EXON Missense_N94S exm263049 2 216190053 [A/G] NM_004044 ATIC Silent exm263054 2 216190791 [T/C] NM_004044 ATIC EXON Missense_V154A exm263060 2 216190844 [T/C] NM_004044 ATIC EXON Missense_R172C exm263065 2 216191586 [T/G] NM_004044 ATIC EXON Missense_D191E exm1997028 2 216191608 [A/G] NM_004044 ATIC EXON Missense_K199E exm263072 2 216197140 [A/G] NM_004044 ATIC EXON Missense_D242N exm263080 2 216198076 [T/C] NM_004044 ATIC EXON Missense_A273V exm263084 2 216198181 [T/G] NM_004044 ATIC Silent exm263094 2 216203538 [T/C] NM_004044 ATIC EXON Nonsense_R379X exm263095 2 216203542 [T/C] NM_004044 ATIC EXON Missense_T380I exm263096 2 216203570 [T/G] NM_004044 ATIC EXON Missense_K389N exm263102 2 216209508 [A/G] NM_004044 ATIC EXON Missense_E412K exm1997048 2 216211488 [A/G] NM_004044 ATIC EXON Missense_G443S exm263110 2 216211571 [A/T] NM_004044 ATIC EXON Missense_H470Q exm263111 2 216211572 [T/C] NM_004044 ATIC EXON Missense_P471S exm263113 2 216211585 [T/C] NM_004044 ATIC EXON Missense_S475L exm263116 2 216211627 [A/G] NM_004044 ATIC EXON Missense_N489S exm263120 2 216211660 [A/G] NM_004044 ATIC EXON Missense_G500D exm263125 2 216213841 [A/G] NM_004044 ATIC EXON Missense_A510T exm263137 2 216214269 [T/C] NM_004044 ATIC EXON Missense_A557V exm263140 2 216214314 [T/C] NM_004044 ATIC EXON Missense_I572T exm1997060 2 216214350 [A/G] NM_004044 ATIC EXON Missense_H584R exm263149 2 216226759 [G/C] NM_212476,NM_212482,NM_002026,NM_212474,NM_212478 FN1,FN1,FN1,FN1,FN1 EXON Missense_S2251T,Missense_S2432T,Missense_S2310T,Missense_S2131T,Missense_S2285T exm263150 2 216226780 [T/C] NM_212476,NM_212482,NM_002026,NM_212474,NM_212478 FN1,FN1,FN1,FN1,FN1 EXON Missense_R2244H,Missense_R2425H,Missense_R2303H,Missense_R2124H,Missense_R2278H exm263156 2 216229602 [T/C] NM_212476,NM_212482,NM_002026,NM_212474,NM_212478 FN1,FN1,FN1,FN1,FN1 EXON Synonymous_R2236R,Synonymous_R2417R,Synonymous_R2295R,Synonymous_R2116R,Synonymous_R2270R exm1997080 2 216232682 [T/C] NM_212476,NM_212482,NM_002026,NM_212474,NM_212478 FN1,FN1,FN1,FN1,FN1 EXON Missense_V2127I,Missense_V2308I,Missense_V2186I,Missense_V2007I,Missense_V2161I exm263171 2 216235029 [T/C] NM_212476,NM_212482,NM_002026,NM_212474,NM_212478 FN1,FN1,FN1,FN1,FN1 EXON Missense_V2100M,Missense_V2281M,Missense_V2159M,Missense_V1980M,Missense_V2134M exm263172 2 216235046 [T/C] NM_212476,NM_212482,NM_002026,NM_212474,NM_212478 FN1,FN1,FN1,FN1,FN1 EXON Missense_R2094Q,Missense_R2275Q,Missense_R2153Q,Missense_R1974Q,Missense_R2128Q exm263173 2 216235089 [T/C] NM_212476,NM_212482,NM_002026,NM_212474,NM_212478 FN1,FN1,FN1,FN1,FN1 EXON Missense_V2080I,Missense_V2261I,Missense_V2139I,Missense_V1960I,Missense_V2114I exm263176 2 216236712 [T/C] NM_212476,NM_212482,NM_002026,NM_212474,NM_212478 FN1,FN1,FN1,FN1,FN1 EXON Missense_I2031V,Missense_I2212V,Missense_I2090V,Missense_I1911V,Missense_I2065V exm263184 2 216236857 [A/C] NM_212476,NM_212482,NM_002026,NM_212474,NM_212478 FN1,FN1,FN1,FN1,FN1 EXON Missense_R1982S,Missense_R2163S,Missense_R2072S,Silent,Missense_R2047S exm263186 2 216236862 [A/G] NM_212476,NM_212482,NM_002026,NM_212474,NM_212478 FN1,FN1,FN1,FN1,FN1 EXON Missense_H1981Y,Missense_H2162Y,Missense_H2071Y,Silent,Missense_H2046Y exm263187 2 216236867 [A/G] NM_212476,NM_212482,NM_002026,NM_212474,NM_212478 FN1,FN1,FN1,FN1,FN1 EXON Missense_I1979T,Missense_I2160T,Missense_I2069T,Silent,Missense_I2044T exm1997092 2 216236888 [A/G] NM_212476,NM_212482,NM_002026,NM_212474,NM_212478 FN1,FN1,FN1,FN1,FN1 EXON Missense_P1972L,Missense_P2153L,Missense_P2062L,Silent,Missense_P2037L exm263206 2 216240047 [A/G] NM_212476,NM_212482,NM_002026,NM_212474,NM_212478 FN1,FN1,FN1,FN1,FN1 EXON Missense_P1835L,Missense_P2016L,Missense_P1925L,Missense_P1835L,Missense_P1925L exm263208 2 216240372 [A/G] NM_212476,NM_212482,NM_002026,NM_212474,NM_212478 FN1,FN1,FN1,FN1,FN1 EXON Missense_V1805A,Missense_V1986A,Missense_V1895A,Missense_V1805A,Missense_V1895A exm263211 2 216240386 [A/G] NM_212476,NM_212482,NM_002026,NM_212474,NM_212478 FN1,FN1,FN1,FN1,FN1 EXON Synonymous_A1800A,Synonymous_A1981A,Synonymous_A1890A,Synonymous_A1800A,Synonymous_A1890A exm2254948 2 216240386 [A/G] NM_212476,NM_212482,NM_002026,NM_212474,NM_212478 FN1,FN1,FN1,FN1,FN1 EXON Synonymous_A1800A,Synonymous_A1981A,Synonymous_A1890A,Synonymous_A1800A,Synonymous_A1890A exm263212 2 216240426 [C/G] NM_212476,NM_212482,NM_002026,NM_212474,NM_212478 FN1,FN1,FN1,FN1,FN1 EXON Missense_T1787S,Missense_T1968S,Missense_T1877S,Missense_T1787S,Missense_T1877S exm263214 2 216241271 [A/G] NM_212476,NM_212482,NM_002026,NM_212474,NM_212478 FN1,FN1,FN1,FN1,FN1 EXON Missense_T1765I,Missense_T1946I,Missense_T1855I,Missense_T1765I,Missense_T1855I exm263223 2 216242918 [A/C] NM_212476,NM_212482,NM_002026,NM_212474,NM_212478 FN1,FN1,FN1,FN1,FN1 EXON Missense_G1716V,Missense_G1897V,Missense_G1806V,Missense_G1716V,Missense_G1806V exm263230 2 216243854 [A/G] NM_212476,NM_212482,NM_002026,NM_212474,NM_212478 FN1,FN1,FN1,FN1,FN1 EXON Missense_M1693T,Missense_M1874T,Missense_M1783T,Missense_M1693T,Missense_M1783T exm1997113 2 216245681 [T/C] NM_212476,NM_212482,NM_002026,NM_212474,NM_212478 FN1,FN1,FN1,FN1,FN1 EXON Silent,Missense_G1763R,Missense_G1672R,Silent,Missense_G1672R exm263257 2 216248778 [T/G] NM_212476,NM_212482,NM_002026,NM_212474,NM_212478 FN1,FN1,FN1,FN1,FN1 EXON Missense_A1529E,Missense_A1620E,Missense_A1529E,Missense_A1529E,Missense_A1529E exm2237051 2 216248845 [T/C] NM_212476,NM_212482,NM_002026,NM_212474,NM_212478 FN1,FN1,FN1,FN1,FN1 EXON Missense_G1507S,Missense_G1598S,Missense_G1507S,Missense_G1507S,Missense_G1507S exm1997117 2 216248878 [T/C] NM_212476,NM_212482,NM_002026,NM_212474,NM_212478 FN1,FN1,FN1,FN1,FN1 EXON Missense_V1496M,Missense_V1587M,Missense_V1496M,Missense_V1496M,Missense_V1496M exm263272 2 216251538 [A/G] NM_212476,NM_212482,NM_002026,NM_212474,NM_212478 FN1,FN1,FN1,FN1,FN1 EXON Missense_R1405W,Missense_R1496W,Missense_R1405W,Missense_R1405W,Missense_R1405W exm263274 2 216251580 [A/G] NM_212476,NM_212482,NM_002026,NM_212474,NM_212478 FN1,FN1,FN1,FN1,FN1 EXON Missense_R1391C,Missense_R1482C,Missense_R1391C,Missense_R1391C,Missense_R1391C exm263275 2 216251660 [A/G] NM_212476,NM_212482,NM_002026,NM_212474,NM_212478 FN1,FN1,FN1,FN1,FN1 EXON Missense_I1364T,Missense_I1455T,Missense_I1364T,Missense_I1364T,Missense_I1364T exm263276 2 216251667 [T/C] NM_212476,NM_212482,NM_002026,NM_212474,NM_212478 FN1,FN1,FN1,FN1,FN1 EXON Missense_T1362A,Missense_T1453A,Missense_T1362A,Missense_T1362A,Missense_T1362A exm263285 2 216256388 [T/C] NM_212476,NM_212482,NM_002026,NM_212474,NM_212478 FN1,FN1,FN1,FN1,FN1 EXON Missense_I1316V,Missense_I1407V,Missense_I1316V,Missense_I1316V,Missense_I1316V exm263297 2 216257690 [T/C] NM_212476,NM_212482,NM_002026,NM_212474,NM_212478 FN1,FN1,FN1,FN1,FN1 EXON Silent,Missense_G1345S,Silent,Silent,Silent exm263309 2 216257815 [A/G] NM_212476,NM_212482,NM_002026,NM_212474,NM_212478 FN1,FN1,FN1,FN1,FN1 EXON Silent,Missense_V1303A,Silent,Silent,Silent exm263335 2 216262429 [A/G] NM_212476,NM_212482,NM_002026,NM_212474,NM_212478 FN1,FN1,FN1,FN1,FN1 EXON Missense_A1164V,Missense_A1164V,Missense_A1164V,Missense_A1164V,Missense_A1164V exm263338 2 216262505 [T/C] NM_212476,NM_212482,NM_002026,NM_212474,NM_212478 FN1,FN1,FN1,FN1,FN1 EXON Missense_V1139I,Missense_V1139I,Missense_V1139I,Missense_V1139I,Missense_V1139I exm263339 2 216262556 [T/G] NM_212476,NM_212482,NM_002026,NM_212474,NM_212478 FN1,FN1,FN1,FN1,FN1 EXON Missense_S1122R,Missense_S1122R,Missense_S1122R,Missense_S1122R,Missense_S1122R exm263341 2 216264005 [A/G] NM_212476,NM_212482,NM_002026,NM_212474,NM_212478 FN1,FN1,FN1,FN1,FN1 EXON Missense_T1108M,Missense_T1108M,Missense_T1108M,Missense_T1108M,Missense_T1108M exm263342 2 216264021 [T/G] NM_212476,NM_212482,NM_002026,NM_212474,NM_212478 FN1,FN1,FN1,FN1,FN1 EXON Missense_I1103L,Missense_I1103L,Missense_I1103L,Missense_I1103L,Missense_I1103L exm263348 2 216269160 [A/T] NM_212476,NM_212482,NM_002026,NM_212474,NM_212478 FN1,FN1,FN1,FN1,FN1 EXON Missense_I1069L,Missense_I1069L,Missense_I1069L,Missense_I1069L,Missense_I1069L exm263349 2 216269166 [T/C] NM_212476,NM_212482,NM_002026,NM_212474,NM_212478 FN1,FN1,FN1,FN1,FN1 EXON Missense_V1067M,Missense_V1067M,Missense_V1067M,Missense_V1067M,Missense_V1067M exm263350 2 216269175 [T/C] NM_212476,NM_212482,NM_002026,NM_212474,NM_212478 FN1,FN1,FN1,FN1,FN1 EXON Missense_V1064I,Missense_V1064I,Missense_V1064I,Missense_V1064I,Missense_V1064I exm263356 2 216269235 [T/C] NM_212476,NM_212482,NM_002026,NM_212474,NM_212478 FN1,FN1,FN1,FN1,FN1 EXON Missense_V1044M,Missense_V1044M,Missense_V1044M,Missense_V1044M,Missense_V1044M exm263361 2 216269303 [T/C] NM_212476,NM_212482,NM_002026,NM_212474,NM_212478 FN1,FN1,FN1,FN1,FN1 EXON Missense_R1021Q,Missense_R1021Q,Missense_R1021Q,Missense_R1021Q,Missense_R1021Q exm263362 2 216269334 [A/C] NM_212476,NM_212482,NM_002026,NM_212474,NM_212478 FN1,FN1,FN1,FN1,FN1 EXON Missense_S1011A,Missense_S1011A,Missense_S1011A,Missense_S1011A,Missense_S1011A exm263363 2 216269339 [T/G] NM_212476,NM_212482,NM_002026,NM_212474,NM_212478 FN1,FN1,FN1,FN1,FN1 EXON Missense_T1009N,Missense_T1009N,Missense_T1009N,Missense_T1009N,Missense_T1009N exm263370 2 216271051 [T/C] NM_212476,NM_212482,NM_002026,NM_212474,NM_212478 FN1,FN1,FN1,FN1,FN1 EXON Missense_G966R,Missense_G966R,Missense_G966R,Missense_G966R,Missense_G966R exm2254950 2 216271139 [C/G] NM_212476,NM_212482,NM_002026,NM_212474,NM_212478 FN1,FN1,FN1,FN1,FN1 EXON Synonymous_G936G,Synonymous_G936G,Synonymous_G936G,Synonymous_G936G,Synonymous_G936G exm263380 2 216271139 [C/G] NM_212476,NM_212482,NM_002026,NM_212474,NM_212478 FN1,FN1,FN1,FN1,FN1 EXON Synonymous_G936G,Synonymous_G936G,Synonymous_G936G,Synonymous_G936G,Synonymous_G936G exm263400 2 216272900 [T/G] NM_212476,NM_212482,NM_002026,NM_212474,NM_212478 FN1,FN1,FN1,FN1,FN1 EXON Missense_T817P,Missense_T817P,Missense_T817P,Missense_T817P,Missense_T817P exm263403 2 216273036 [T/C] NM_212476,NM_212482,NM_002026,NM_212474,NM_212478 FN1,FN1,FN1,FN1,FN1 EXON Missense_T805A,Missense_T805A,Missense_T805A,Missense_T805A,Missense_T805A exm263411 2 216274441 [A/G] NM_212476,NM_212482,NM_002026,NM_212474,NM_212478 FN1,FN1,FN1,FN1,FN1 EXON Missense_T715M,Missense_T715M,Missense_T715M,Missense_T715M,Missense_T715M exm263414 2 216274456 [A/G] NM_212476,NM_212482,NM_002026,NM_212474,NM_212478 FN1,FN1,FN1,FN1,FN1 EXON Missense_T710I,Missense_T710I,Missense_T710I,Missense_T710I,Missense_T710I exm263423 2 216283976 [T/C] NM_212476,NM_212482,NM_002026,NM_212474,NM_212478,NM_054034 FN1,FN1,FN1,FN1,FN1,FN1 EXON Missense_Q603R,Missense_Q603R,Missense_Q603R,Missense_Q603R,Missense_Q603R,Missense_Q603R exm263424 2 216284009 [T/C] NM_212476,NM_212482,NM_002026,NM_212474,NM_212478,NM_054034 FN1,FN1,FN1,FN1,FN1,FN1 EXON Missense_R592H,Missense_R592H,Missense_R592H,Missense_R592H,Missense_R592H,Missense_R592H exm263434 2 216285470 [T/C] NM_212476,NM_212482,NM_002026,NM_212474,NM_212478,NM_054034 FN1,FN1,FN1,FN1,FN1,FN1 EXON Missense_R534H,Missense_R534H,Missense_R534H,Missense_R534H,Missense_R534H,Missense_R534H exm263436 2 216285504 [T/G] NM_212476,NM_212482,NM_002026,NM_212474,NM_212478,NM_054034 FN1,FN1,FN1,FN1,FN1,FN1 EXON Missense_I523L,Missense_I523L,Missense_I523L,Missense_I523L,Missense_I523L,Missense_I523L exm263441 2 216288105 [T/G] NM_212476,NM_212482,NM_002026,NM_212474,NM_212478,NM_054034 FN1,FN1,FN1,FN1,FN1,FN1 EXON Missense_A454D,Missense_A454D,Missense_A454D,Missense_A454D,Missense_A454D,Missense_A454D exm263461 2 216289852 [A/G] NM_212476,NM_212482,NM_002026,NM_212474,NM_212478,NM_054034 FN1,FN1,FN1,FN1,FN1,FN1 EXON Missense_T334M,Missense_T334M,Missense_T334M,Missense_T334M,Missense_T334M,Missense_T334M exm263481 2 216296601 [T/C] NM_212476,NM_212482,NM_002026,NM_212474,NM_212478,NM_054034 FN1,FN1,FN1,FN1,FN1,FN1 EXON Missense_V168M,Missense_V168M,Missense_V168M,Missense_V168M,Missense_V168M,Missense_V168M exm263490 2 216298149 [T/G] NM_212476,NM_212482,NM_002026,NM_212474,NM_212478,NM_054034 FN1,FN1,FN1,FN1,FN1,FN1 EXON Missense_T105P,Missense_T105P,Missense_T105P,Missense_T105P,Missense_T105P,Missense_T105P exm263501 2 216300385 [T/G] NM_212476,NM_212482,NM_002026,NM_212474,NM_212478,NM_054034 FN1,FN1,FN1,FN1,FN1,FN1 EXON Missense_Q47H,Missense_Q47H,Missense_Q47H,Missense_Q47H,Missense_Q47H,Missense_Q47H exm263502 2 216300405 [A/C] NM_212476,NM_212482,NM_002026,NM_212474,NM_212478,NM_054034 FN1,FN1,FN1,FN1,FN1,FN1 EXON Missense_S41A,Missense_S41A,Missense_S41A,Missense_S41A,Missense_S41A,Missense_S41A exm263506 2 216300470 [A/G] NM_212476,NM_212482,NM_002026,NM_212474,NM_212478,NM_054034 FN1,FN1,FN1,FN1,FN1,FN1 EXON Missense_T19I,Missense_T19I,Missense_T19I,Missense_T19I,Missense_T19I,Missense_T19I exm-rs1250229 2 216304384 [T/C] exm2263965 2 216577567 [A/C] NR_037195 LINC00607 Silent exm263519 2 216811790 [T/C] NM_018000 MREG EXON Missense_R101Q exm1997257 2 216861089 [A/G] NM_018000 MREG EXON Synonymous_D65D exm263528 2 216861171 [A/G] NM_018000 MREG EXON Missense_S38F exm263532 2 216878008 [G/C] NM_018000 MREG EXON Missense_G15R exm2269218 2 216892446 [T/C] exm-rs7590720 2 216898658 [A/G] exm2273365 2 216903962 [A/G] NM_018441 PECR EXON Silent exm263537 2 216904019 [A/T] NM_018441 PECR EXON Missense_F297L exm263544 2 216908657 [T/C] NM_018441 PECR EXON Missense_S266G exm263554 2 216914095 [T/C] NM_018441 PECR EXON Missense_G202E exm263558 2 216923619 [C/G] NM_018441 PECR EXON Missense_V169L exm263561 2 216923679 [T/C] NM_018441 PECR EXON Missense_E149K exm263568 2 216930191 [A/C] NM_018441 PECR EXON Missense_L90V exm263580 2 216931193 [A/G] NM_018441 PECR EXON Missense_A58V exm263581 2 216931217 [T/C] NM_018441 PECR EXON Missense_R50H exm263582 2 216931218 [A/G] NM_018441 PECR EXON Missense_R50C exm263584 2 216931238 [T/C] NM_018441 PECR EXON Missense_S43N exm263596 2 216946463 [A/G] NM_018441 PECR EXON Missense_M1T exm263598 2 216960759 [A/G] NM_001142310,NM_138390,NM_001142312,NM_001142311 TMEM169,TMEM169,TMEM169,TMEM169 EXON Missense_V25M,Missense_V25M,Missense_V25M,Missense_V25M exm263601 2 216960801 [T/C] NM_001142310,NM_138390,NM_001142312,NM_001142311 TMEM169,TMEM169,TMEM169,TMEM169 EXON Missense_H39Y,Missense_H39Y,Missense_H39Y,Missense_H39Y exm263603 2 216960828 [T/C] NM_001142310,NM_138390,NM_001142312,NM_001142311 TMEM169,TMEM169,TMEM169,TMEM169 EXON Missense_R48C,Missense_R48C,Missense_R48C,Missense_R48C exm263606 2 216964646 [T/C] NM_001142310,NM_138390,NM_001142312,NM_001142311 TMEM169,TMEM169,TMEM169,TMEM169 EXON Missense_M92T,Missense_M92T,Missense_M92T,Missense_M92T exm263611 2 216964668 [A/C] NM_001142310,NM_138390,NM_001142312,NM_001142311 TMEM169,TMEM169,TMEM169,TMEM169 EXON Missense_S99R,Missense_S99R,Missense_S99R,Missense_S99R exm263617 2 216964799 [T/C] NM_001142310,NM_138390,NM_001142312,NM_001142311 TMEM169,TMEM169,TMEM169,TMEM169 EXON Missense_T143M,Missense_T143M,Missense_T143M,Missense_T143M exm1997296 2 216965002 [A/G] NM_001142310,NM_138390,NM_001142312,NM_001142311 TMEM169,TMEM169,TMEM169,TMEM169 EXON Missense_V211I,Missense_V211I,Missense_V211I,Missense_V211I exm263631 2 216965100 [A/T] NM_001142310,NM_138390,NM_001142312,NM_001142311 TMEM169,TMEM169,TMEM169,TMEM169 EXON Missense_Q243H,Missense_Q243H,Missense_Q243H,Missense_Q243H exm263638 2 216965258 [T/C] NM_001142310,NM_138390,NM_001142312,NM_001142311 TMEM169,TMEM169,TMEM169,TMEM169 EXON Missense_T296M,Missense_T296M,Missense_T296M,Missense_T296M exm263660 2 216981551 [C/G] NM_021141 XRCC5 EXON Missense_S102C exm263667 2 216983799 [A/G] NM_021141 XRCC5 EXON Missense_I134M exm1997315 2 216990659 [T/C] NM_021141 XRCC5 EXON Missense_C235R exm263679 2 216995599 [T/G] NM_021141 XRCC5 EXON Synonymous_G313G exm263684 2 217001820 [T/G] NM_021141 XRCC5 EXON Missense_V375F exm263685 2 217001871 [A/G] NM_021141 XRCC5 EXON Missense_I392V exm263696 2 217005926 [A/G] NM_021141 XRCC5 EXON Missense_V454I exm263712 2 217012977 [T/G] NM_021141 XRCC5 EXON Missense_A550S exm263729 2 217055041 [A/G] NM_021141 XRCC5 EXON Missense_R643Q exm1997377 2 217124053 [T/C] NM_020814 MARCH4 EXON Missense_M405I exm263745 2 217124100 [A/G] NM_020814 MARCH4 EXON Missense_P390S exm263759 2 217142472 [A/G] NM_020814 MARCH4 EXON Missense_S263L exm263766 2 217142580 [C/G] NM_020814 MARCH4 EXON Missense_A227G exm2237057 2 217148362 [A/T] NM_020814 MARCH4 EXON Missense_W203R exm263777 2 217234508 [T/C] NM_020814 MARCH4 EXON Missense_R159K exm263798 2 217279551 [A/G] NM_014140,NM_001127207 SMARCAL1,SMARCAL1 EXON Missense_I42V,Missense_I42V exm263799 2 217279554 [A/G] NM_014140,NM_001127207 SMARCAL1,SMARCAL1 EXON Missense_A43T,Missense_A43T exm263805 2 217279768 [A/G] NM_014140,NM_001127207 SMARCAL1,SMARCAL1 EXON Missense_R114H,Missense_R114H exm2237059 2 217279923 [T/C] NM_014140,NM_001127207 SMARCAL1,SMARCAL1 EXON Missense_P166S,Missense_P166S exm263821 2 217280203 [T/C] NM_014140,NM_001127207 SMARCAL1,SMARCAL1 EXON Missense_I259T,Missense_I259T exm263833 2 217285104 [G/C] NM_014140,NM_001127207 SMARCAL1,SMARCAL1 EXON Missense_S315R,Missense_S315R exm263838 2 217285121 [A/G] NM_014140,NM_001127207 SMARCAL1,SMARCAL1 EXON Missense_G321D,Missense_G321D exm2254960 2 217285809 [A/G] NM_014140,NM_001127207 SMARCAL1,SMARCAL1 Silent,Silent exm263847 2 217288388 [G/C] NM_014140,NM_001127207 SMARCAL1,SMARCAL1 EXON Missense_E377Q,Missense_E377Q exm263849 2 217293331 [A/G] NM_014140,NM_001127207 SMARCAL1,SMARCAL1 EXON Missense_R387H,Missense_R387H exm1997421 2 217293430 [T/C] NM_014140,NM_001127207 SMARCAL1,SMARCAL1 EXON Missense_V420A,Missense_V420A exm263854 2 217293442 [A/T] NM_014140,NM_001127207 SMARCAL1,SMARCAL1 EXON Missense_D424V,Missense_D424V exm263856 2 217293472 [T/C] NM_014140,NM_001127207 SMARCAL1,SMARCAL1 EXON Missense_S434F,Missense_S434F exm263871 2 217300071 [A/G] NM_014140,NM_001127207 SMARCAL1,SMARCAL1 EXON Missense_R499Q,Missense_R499Q exm263875 2 217300109 [A/G] NM_014140,NM_001127207 SMARCAL1,SMARCAL1 EXON Missense_V512M,Missense_V512M exm263878 2 217311757 [T/C] NM_014140,NM_001127207 SMARCAL1,SMARCAL1 EXON Missense_I576T,Missense_I576T exm263881 2 217311816 [A/G] NM_014140,NM_001127207 SMARCAL1,SMARCAL1 EXON Missense_A596T,Missense_A596T exm263892 2 217315665 [A/G] NM_014140,NM_001127207 SMARCAL1,SMARCAL1 EXON Missense_V650I,Missense_V650I exm263898 2 217315764 [A/G] NM_014140,NM_001127207 SMARCAL1,SMARCAL1 EXON Missense_E683K,Missense_E683K exm263899 2 217315787 [T/C] NM_014140,NM_001127207 SMARCAL1,SMARCAL1 EXON Synonymous_T690T,Synonymous_T690T exm263901 2 217329363 [T/C] NM_014140,NM_001127207 SMARCAL1,SMARCAL1 EXON Missense_T705I,Missense_T705I exm263914 2 217342939 [T/G] NM_014140,NM_001127207 SMARCAL1,SMARCAL1 EXON Nonsense_E848X,Nonsense_E848X exm263920 2 217347476 [A/C] NM_014140,NM_001127207 SMARCAL1,SMARCAL1 EXON Missense_K881Q,Missense_K881Q exm263927 2 217347600 [T/C] NM_014140,NM_001127207 SMARCAL1,SMARCAL1 EXON Missense_M922T,Missense_M922T exm263939 2 217363602 [T/G] NM_000998 RPL37A Silent exm263987 2 217525499 [A/C] NM_000597 IGFBP2 EXON Missense_P221H exm264004 2 217528816 [T/C] NM_000597 IGFBP2 EXON Missense_R323W exm264015 2 217541524 [A/C] NM_000599 IGFBP5 EXON Missense_V257F exm264020 2 217542888 [A/G] NM_000599 IGFBP5 EXON Missense_R212C exm1997526 2 217543591 [T/C] NM_000599 IGFBP5 EXON Missense_M183I exm264024 2 217543632 [T/C] NM_000599 IGFBP5 EXON Missense_E170K exm264030 2 217543728 [A/G] NM_000599 IGFBP5 EXON Missense_R138W exm2269370 2 217568101 [T/G] exm2254962 2 217682779 [A/C] exm264050 2 217724415 [T/C] NM_003284 TNP1 EXON Missense_N48S exm264052 2 217724645 [A/C] NM_003284 TNP1 EXON Missense_L38R exm-rs6435957 2 217878209 [T/C] exm-rs13387042 2 217905832 [A/G] exm2261171 2 217984660 [A/G] exm-rs1351164 2 218271898 [T/C] NR_026597 DIRC3 Silent exm2254967 2 218283303 [T/G] NR_026597 DIRC3 Silent exm264065 2 218669196 [T/C] NM_022648 TNS1 EXON Missense_G1732S exm264068 2 218669225 [T/C] NM_022648 TNS1 EXON Missense_N1722S exm264071 2 218669288 [A/G] NM_022648 TNS1 EXON Missense_T1701M exm2276808 2 218669326 [A/C] NM_022648 TNS1 EXON Missense_K1688N exm264083 2 218674598 [T/C] NM_022648 TNS1 EXON Missense_V1637I exm264089 2 218674697 [T/C] NM_022648 TNS1 EXON Missense_V1604I exm1997982 2 218679712 [A/G] NM_022648 TNS1 EXON Missense_P1447L exm264110 2 218682497 [T/C] NM_022648 TNS1 EXON Missense_A1416T exm264112 2 218682509 [A/C] NM_022648 TNS1 EXON Missense_S1412A exm264120 2 218682731 [A/G] NM_022648 TNS1 EXON Missense_R1338W exm264121 2 218682757 [A/G] NM_022648 TNS1 EXON Missense_P1329L exm1997991 2 218682785 [A/G] NM_022648 TNS1 EXON Missense_H1320Y exm2254975 2 218682923 [T/G] NM_022648 TNS1 EXON Synonymous_R1274R exm264149 2 218683139 [A/G] NM_022648 TNS1 EXON Missense_P1202S exm2237066 2 218683150 [T/C] NM_022648 TNS1 EXON Missense_R1198Q exm264150 2 218683154 [A/G] NM_022648 TNS1 EXON Missense_W1197R exm264155 2 218683225 [A/G] NM_022648 TNS1 EXON Missense_T1173M exm1997997 2 218683301 [T/C] NM_022648 TNS1 EXON Missense_D1148N exm264164 2 218683396 [T/C] NM_022648 TNS1 EXON Missense_R1116H exm264165 2 218683397 [A/G] NM_022648 TNS1 EXON Missense_R1116C exm1998001 2 218683449 [T/G] NM_022648 TNS1 EXON Missense_S1098R exm1998002 2 218683462 [A/G] NM_022648 TNS1 EXON Missense_P1094L exm264174 2 218686529 [T/G] NM_022648 TNS1 EXON Missense_T1065N exm264179 2 218686643 [A/T] NM_022648 TNS1 EXON Missense_E1027V exm264180 2 218686655 [T/C] NM_022648 TNS1 EXON Missense_R1023Q exm264181 2 218686660 [T/C] NM_022648 TNS1 EXON Synonymous_E1021E exm264191 2 218696204 [A/G] NM_022648 TNS1 EXON Missense_A991V exm264199 2 218699832 [T/C] NM_022648 TNS1 EXON Missense_S963G exm264206 2 218700767 [T/C] NM_022648 TNS1 EXON Missense_A934T exm2273854 2 218700826 [A/C] NM_022648 TNS1 EXON Missense_R914L exm264215 2 218700829 [A/G] NM_022648 TNS1 EXON Missense_P913L exm264221 2 218700922 [T/C] NM_022648 TNS1 EXON Missense_R882Q exm264227 2 218712260 [T/C] NM_022648 TNS1 EXON Missense_E869K exm264233 2 218712290 [A/G] NM_022648 TNS1 EXON Missense_R859W exm264235 2 218712307 [A/G] NM_022648 TNS1 EXON Missense_A853V exm264242 2 218712449 [T/G] NM_022648 TNS1 EXON Missense_N806H exm264251 2 218712605 [A/G] NM_022648 TNS1 EXON Missense_R754C exm264254 2 218712644 [T/C] NM_022648 TNS1 EXON Missense_A741T exm1998024 2 218712674 [T/A] NM_022648 TNS1 EXON Missense_S731T exm264266 2 218712802 [A/G] NM_022648 TNS1 EXON Missense_T688I exm264279 2 218713012 [A/C] NM_022648 TNS1 EXON Missense_R618L exm264290 2 218713174 [A/G] NM_022648 TNS1 EXON Missense_A564V exm264294 2 218713282 [A/G] NM_022648 TNS1 EXON Missense_T528I exm264297 2 218713327 [A/G] NM_022648 TNS1 EXON Missense_A513V exm264300 2 218713365 [G/C] NM_022648 TNS1 EXON Missense_I500M exm264311 2 218713469 [A/G] NM_022648 TNS1 EXON Missense_R466C exm264313 2 218713542 [T/G] NM_022648 TNS1 EXON Missense_D441E exm264321 2 218713727 [T/C] NM_022648 TNS1 EXON Missense_G380R exm264324 2 218713772 [C/G] NM_022648 TNS1 EXON Missense_L365V exm264330 2 218745708 [T/C] NM_022648 TNS1 EXON Missense_V323M exm264332 2 218745717 [G/C] NM_022648 TNS1 EXON Missense_G320R exm264339 2 218747073 [A/C] NM_022648 TNS1 EXON Missense_I311M exm264345 2 218749850 [C/G] NM_022648 TNS1 EXON Missense_R260P exm264355 2 218751296 [T/C] NM_022648 TNS1 EXON Missense_V189M exm264357 2 218751323 [T/C] NM_022648 TNS1 EXON Missense_N180D exm1998046 2 218755766 [A/G] NM_022648 TNS1 EXON Missense_A137V exm264367 2 218758179 [T/C] NM_022648 TNS1 EXON Missense_V109I exm264368 2 218758200 [T/G] NM_022648 TNS1 EXON Missense_N102H exm264371 2 218759745 [A/G] NM_022648 TNS1 EXON Missense_T68M exm264377 2 218762522 [A/C] NM_022648 TNS1 EXON Missense_L56R exm264378 2 218762553 [T/C] NM_022648 TNS1 EXON Missense_M46V exm264380 2 218762580 [A/G] NM_022648 TNS1 EXON Missense_R37W exm264381 2 218762593 [A/C] NM_022648 TNS1 EXON Missense_N32K exm264383 2 218762616 [T/C] NM_022648 TNS1 EXON Missense_V25I exm264384 2 218762637 [T/C] NM_022648 TNS1 EXON Missense_V18I exm264386 2 218762673 [T/C] NM_022648 TNS1 EXON Missense_T6A exm2237068 2 218762675 [T/C] NM_022648 TNS1 EXON Missense_R5Q exm2269220 2 218864319 [T/C] exm264392 2 218935481 [A/G] NR_034176,NM_198483 RUFY4,RUFY4 EXON Silent,Missense_V18I exm264398 2 218937157 [T/C] NR_034176,NM_198483 RUFY4,RUFY4 EXON Silent,Missense_C72R exm264399 2 218937209 [A/G] NR_034176,NM_198483 RUFY4,RUFY4 EXON Silent,Missense_R89H exm264401 2 218937527 [A/G] NR_034176,NM_198483 RUFY4,RUFY4 EXON Silent,Missense_R102H exm264402 2 218938007 [A/G] NR_034176,NM_198483 RUFY4,RUFY4 EXON Silent,Missense_R143H exm264403 2 218938072 [T/C] NR_034176,NM_198483 RUFY4,RUFY4 EXON Silent,Nonsense_Q165X exm264404 2 218938084 [T/G] NR_034176,NM_198483 RUFY4,RUFY4 EXON Silent,Missense_D169Y exm264408 2 218938595 [T/A] NR_034176,NM_198483 RUFY4,RUFY4 EXON Silent,Missense_D196V exm264414 2 218939894 [A/G] NR_034176,NM_198483 RUFY4,RUFY4 EXON Silent,Missense_A227T exm264422 2 218940042 [A/G] NR_034176,NM_198483 RUFY4,RUFY4 EXON Silent,Missense_D276G exm264428 2 218940170 [T/G] NR_034176,NM_198483 RUFY4,RUFY4 EXON Silent,Missense_V319F exm264431 2 218940243 [T/A] NR_034176,NM_198483 RUFY4,RUFY4 EXON Silent,Missense_Q343L exm264438 2 218940396 [A/G] NR_034176,NM_198483 RUFY4,RUFY4 EXON Silent,Missense_Q394R exm264444 2 218941154 [T/C] NR_034176,NM_198483 RUFY4,RUFY4 EXON Silent,Missense_L418P exm1998130 2 218941241 [A/G] NR_034176,NM_198483 RUFY4,RUFY4 EXON Silent,Missense_R447Q exm264462 2 218953991 [T/G] NR_034176,NM_198483 RUFY4,RUFY4 EXON Silent,Missense_W507G exm264465 2 218954024 [T/C] NR_034176,NM_198483 RUFY4,RUFY4 EXON Silent,Missense_P518S exm264474 2 218954697 [T/C] NR_034176,NM_198483 RUFY4,RUFY4 EXON Silent,Missense_H546Y exm264476 2 218954716 [A/G] NR_034176,NM_198483 RUFY4,RUFY4 EXON Silent,Missense_Y552C exm264482 2 218999541 [T/G] NM_001168298,NM_001557 CXCR2,CXCR2 EXON Missense_M6R,Missense_M6R exm264486 2 218999633 [A/G] NM_001168298,NM_001557 CXCR2,CXCR2 EXON Missense_A37T,Missense_A37T exm264499 2 218999982 [A/G] NM_001168298,NM_001557 CXCR2,CXCR2 EXON Missense_R153H,Missense_R153H exm264504 2 219000108 [A/C] NM_001168298,NM_001557 CXCR2,CXCR2 EXON Missense_A195D,Missense_A195D exm264515 2 219000230 [T/C] NM_001168298,NM_001557 CXCR2,CXCR2 EXON Missense_R236C,Missense_R236C exm264517 2 219000245 [A/G] NM_001168298,NM_001557 CXCR2,CXCR2 EXON Missense_A241T,Missense_A241T exm264519 2 219000267 [A/G] NM_001168298,NM_001557 CXCR2,CXCR2 EXON Missense_R248Q,Missense_R248Q exm264526 2 219000389 [T/C] NM_001168298,NM_001557 CXCR2,CXCR2 EXON Missense_R289C,Missense_R289C exm264529 2 219000405 [A/G] NM_001168298,NM_001557 CXCR2,CXCR2 EXON Missense_R294Q,Missense_R294Q exm264533 2 219000519 [A/G] NM_001168298,NM_001557 CXCR2,CXCR2 EXON Missense_H332R,Missense_H332R exm264541 2 219028910 [A/G] NM_000634 CXCR1 EXON Missense_S342L exm264542 2 219028932 [A/G] NM_000634 CXCR1 EXON Missense_R335C exm264544 2 219028938 [A/G] NM_000634 CXCR1 EXON Missense_R333C exm264547 2 219028997 [T/C] NM_000634 CXCR1 EXON Missense_R313H exm264561 2 219029099 [T/C] NM_000634 CXCR1 EXON Missense_R279H exm264563 2 219029108 [G/C] NM_000634 CXCR1 EXON Missense_S276T exm264564 2 219029133 [T/G] NM_000634 CXCR1 EXON Missense_M268L exm264580 2 219029339 [T/C] NM_000634 CXCR1 EXON Missense_R199Q exm264592 2 219029486 [T/C] NM_000634 CXCR1 EXON Missense_R150H exm264607 2 219029843 [A/C] NM_000634 CXCR1 EXON Missense_M31R exm264611 2 219029932 [T/C] NM_000634 CXCR1 EXON Missense_M1I exm1998223 2 219103463 [A/G] NM_152862,NM_005731 ARPC2,ARPC2 EXON Missense_M115I,Missense_M115I exm264647 2 219114608 [A/G] NM_152862,NM_005731 ARPC2,ARPC2 EXON Missense_R281H,Missense_R281H exm264681 2 219127905 [T/C] NM_170699,NM_001077191,NM_001077194 GPBAR1,GPBAR1,GPBAR1 EXON Missense_A153V,Missense_A153V,Missense_A153V exm264687 2 219128009 [A/G] NM_170699,NM_001077191,NM_001077194 GPBAR1,GPBAR1,GPBAR1 EXON Missense_V188M,Missense_V188M,Missense_V188M exm264694 2 219128096 [G/C] NM_170699,NM_001077191,NM_001077194 GPBAR1,GPBAR1,GPBAR1 EXON Missense_A217P,Missense_A217P,Missense_A217P exm264695 2 219128148 [T/G] NM_170699,NM_001077191,NM_001077194 GPBAR1,GPBAR1,GPBAR1 EXON Missense_G234V,Missense_G234V,Missense_G234V exm264698 2 219128261 [A/G] NM_170699,NM_001077191,NM_001077194 GPBAR1,GPBAR1,GPBAR1 EXON Missense_S272G,Missense_S272G,Missense_S272G exm2269371 2 219128506 [T/C] NM_170699,NM_001077191,NM_001077194 GPBAR1,GPBAR1,GPBAR1 EXON Silent,Silent,Silent exm1998307 2 219129783 [A/G] NM_001087 AAMP EXON Missense_R397W exm264724 2 219129896 [A/G] NM_001087 AAMP EXON Missense_S359L exm264742 2 219130802 [T/C] NM_001087 AAMP EXON Missense_I250V exm264748 2 219131291 [T/C] NM_001087 AAMP EXON Missense_R185Q exm264753 2 219131616 [A/C] NM_001087 AAMP EXON Missense_V163G exm264754 2 219131623 [T/A] NM_001087 AAMP EXON Missense_W161R exm264762 2 219134116 [A/G] NM_001087 AAMP EXON Missense_A88V exm264763 2 219134117 [T/C] NM_001087 AAMP EXON Missense_A88T exm264768 2 219134221 [T/C] NM_001087 AAMP EXON Missense_E53G exm264770 2 219134690 [T/C] NM_001087 AAMP EXON Synonymous_P40P exm264772 2 219134752 [T/C] NM_001087 AAMP EXON Missense_S20G exm264796 2 219137451 [T/C] NM_015488,NM_001077399 PNKD,PNKD EXON Silent,Missense_P132L exm264803 2 219140269 [T/C] NM_015488,NM_022152 PNKD,TMBIM1 EXON Silent,Missense_A289T exm264806 2 219140284 [T/C] NM_015488,NM_022152 PNKD,TMBIM1 EXON Silent,Missense_D284N exm264821 2 219142150 [A/G] NM_015488,NM_022152 PNKD,TMBIM1 EXON Silent,Missense_I193T exm264830 2 219142658 [A/G] NM_015488,NM_022152 PNKD,TMBIM1 EXON Silent,Synonymous_F171F exm2273855 2 219143275 [A/C] NM_015488,NM_022152 PNKD,TMBIM1 EXON Silent,Missense_V146F exm264858 2 219146663 [T/C] NM_015488,NM_022152 PNKD,TMBIM1 EXON Silent,Missense_G68S exm264862 2 219146737 [A/G] NM_015488,NM_022152 PNKD,TMBIM1 EXON Silent,Missense_P43L exm2265273 2 219195799 [A/G] NM_015488,NM_022572 PNKD,PNKD Silent,Silent exm264883 2 219204523 [A/G] NM_015488,NM_022572 PNKD,PNKD EXON Missense_R85H,Missense_R61H exm264885 2 219204534 [A/G] NM_015488,NM_022572 PNKD,PNKD EXON Missense_G89R,Missense_G65R exm264889 2 219204562 [T/G] NM_015488,NM_022572 PNKD,PNKD EXON Missense_R98L,Missense_R74L exm264891 2 219204592 [A/G] NM_015488,NM_022572 PNKD,PNKD EXON Missense_H108R,Missense_H84R exm264901 2 219204854 [A/G] NM_015488,NM_022572 PNKD,PNKD EXON Missense_R152Q,Missense_R128Q exm264911 2 219206292 [A/G] NM_015488,NM_022572 PNKD,PNKD EXON Missense_R187Q,Missense_R163Q exm2237077 2 219206732 [A/G] NM_015488,NM_022572 PNKD,PNKD EXON Missense_V216M,Missense_V192M exm264924 2 219209224 [C/G] NM_015488,NM_022572 PNKD,PNKD EXON Missense_E305D,Missense_E281D exm264925 2 219209228 [A/G] NM_015488,NM_022572 PNKD,PNKD EXON Missense_E307K,Missense_E283K exm1998484 2 219209268 [A/G] NM_015488,NM_022572 PNKD,PNKD EXON Missense_R320Q,Missense_R296Q exm2273366 2 219211369 [A/G] NM_015488,NM_022572 PNKD,PNKD EXON Silent,Silent exm265003 2 219221856 [T/A] NM_198559 C2orf62 EXON Missense_C22S exm1998518 2 219221890 [A/T] NM_198559 C2orf62 EXON Missense_I33N exm265004 2 219221895 [T/A] NM_198559 C2orf62 EXON Missense_F35I exm265014 2 219222308 [T/C] NM_198559 C2orf62 EXON Missense_S57L exm1998526 2 219222442 [A/G] NM_198559 C2orf62 EXON Missense_G102R exm265030 2 219222448 [T/G] NM_198559 C2orf62 EXON Missense_S104A exm265031 2 219222455 [T/G] NM_198559 C2orf62 EXON Missense_L106R exm2237078 2 219222760 [A/G] NM_198559 C2orf62 EXON Missense_G107D exm265041 2 219225378 [A/G] NM_198559 C2orf62 EXON Missense_G153D exm265049 2 219227624 [A/G] NM_198559 C2orf62 EXON Missense_Y210C exm265062 2 219232178 [T/G] NM_198559 C2orf62 EXON Missense_F286L exm265067 2 219232463 [T/C] NM_198559 C2orf62 EXON Missense_H314Y exm265068 2 219232470 [C/G] NM_198559 C2orf62 EXON Missense_S316T exm265080 2 219232617 [A/G] NM_198559 C2orf62 EXON Missense_G365D exm1998568 2 219247825 [A/G] NM_000578 SLC11A1 EXON Synonymous_P50P exm265105 2 219249024 [T/C] NM_000578 SLC11A1 EXON Missense_I70T exm265108 2 219249074 [A/G] NM_000578 SLC11A1 EXON Missense_V87M exm265113 2 219249931 [A/G] NM_000578 SLC11A1 EXON Missense_R112H exm1998576 2 219251364 [T/C] NM_000578 SLC11A1 EXON Missense_R134C exm265125 2 219251409 [A/G] NM_000578 SLC11A1 EXON Missense_D149N exm265127 2 219251437 [T/C] NM_000578 SLC11A1 EXON Missense_I158T exm265134 2 219251920 [A/G] NM_000578 SLC11A1 EXON Missense_D180N exm265141 2 219252677 [A/G] NM_000578 SLC11A1 EXON Missense_K265R exm265148 2 219254668 [A/G] NM_000578 SLC11A1 EXON Missense_A291T exm265149 2 219254672 [T/C] NM_000578 SLC11A1 EXON Missense_L292P exm265151 2 219254677 [A/G] NM_000578 SLC11A1 EXON Missense_V294I exm265152 2 219254705 [T/C] NM_000578 SLC11A1 EXON Missense_M303T exm2275275 2 219254750 [T/C] NM_000578 SLC11A1 EXON Missense_A318V exm265161 2 219255993 [A/G] NM_000578 SLC11A1 EXON Missense_V343M exm265164 2 219256102 [A/G] NM_000578 SLC11A1 EXON Missense_V350M exm265168 2 219256209 [C/G] NM_000578 SLC11A1 EXON Missense_F385L exm265172 2 219257720 [A/G] NM_000578 SLC11A1 EXON Missense_R394Q exm265173 2 219257728 [T/C] NM_000578 SLC11A1 EXON Missense_R397C exm265180 2 219257795 [A/G] NM_000578 SLC11A1 EXON Missense_R419Q exm265185 2 219258855 [A/G] NM_000578 SLC11A1 EXON Missense_V443M exm265186 2 219258856 [T/C] NM_000578 SLC11A1 EXON Missense_V443A exm265190 2 219258910 [A/G] NM_000578 SLC11A1 EXON Missense_N461S exm265196 2 219259361 [T/C] NM_000578 SLC11A1 EXON Synonymous_N465N exm2254984 2 219259361 [T/C] NM_000578 SLC11A1 EXON Synonymous_N465N exm265199 2 219259416 [A/G] NM_000578 SLC11A1 EXON Missense_V484M exm265201 2 219259458 [A/G] NM_000578 SLC11A1 EXON Missense_G498S exm265206 2 219259672 [A/G] NM_000578 SLC11A1 EXON Missense_G523R exm265207 2 219259732 [A/G] NM_000578 SLC11A1 EXON Missense_D543N exm265220 2 219266385 [A/G] NM_001206878,NM_021198,NM_182642 CTDSP1,CTDSP1,CTDSP1 EXON Missense_A56T,Missense_A56T,Missense_A56T exm265267 2 219269098 [T/C] NM_001206878,NM_021198,NM_182642 CTDSP1,CTDSP1,CTDSP1 EXON Missense_R245C,Missense_R246C,Missense_R245C exm265271 2 219269135 [A/G] NM_001206878,NM_021198,NM_182642 CTDSP1,CTDSP1,CTDSP1 EXON Missense_R257Q,Missense_R258Q,Missense_R257Q exm265274 2 219288517 [A/G] NM_007127 VIL1 EXON Missense_A6T exm265278 2 219289052 [A/G] NM_007127 VIL1 EXON Missense_G43D exm265284 2 219290482 [A/G] NM_007127 VIL1 EXON Missense_V99I exm265286 2 219292692 [T/C] NM_007127 VIL1 EXON Missense_R118W exm265287 2 219292701 [T/G] NM_007127 VIL1 EXON Missense_G121C exm265300 2 219294119 [A/C] NM_007127 VIL1 EXON Missense_N227H exm265301 2 219294124 [A/C] NM_007127 VIL1 EXON Missense_H228Q exm265303 2 219294143 [A/G] NM_007127 VIL1 EXON Missense_E235K exm265309 2 219294189 [A/C] NM_007127 VIL1 EXON Missense_K250T exm265312 2 219294321 [G/C] NM_007127 VIL1 EXON Missense_V258L exm265318 2 219294388 [T/C] NM_007127 VIL1 EXON Missense_L280P exm265336 2 219296595 [T/C] NM_007127 VIL1 EXON Missense_V373A exm265339 2 219296652 [T/C] NM_007127 VIL1 EXON Missense_M392T exm265356 2 219297562 [T/C] NM_007127 VIL1 EXON Missense_A463V exm265359 2 219297612 [T/C] NM_007127 VIL1 EXON Missense_P480S exm265363 2 219299262 [A/G] NM_007127 VIL1 EXON Missense_R505Q exm265367 2 219299328 [A/C] NM_007127 VIL1 EXON Missense_N527T exm265368 2 219299355 [A/G] NM_007127 VIL1 EXON Missense_R536Q exm265370 2 219299361 [A/G] NM_007127 VIL1 EXON Missense_N538S exm265376 2 219300110 [A/C] NM_007127 VIL1 EXON Missense_N593K exm265378 2 219300151 [T/C] NM_007127 VIL1 EXON Missense_T607I exm265380 2 219301227 [A/G] NM_007127 VIL1 EXON Missense_I617V exm1998683 2 219301234 [C/G] NM_007127 VIL1 EXON Missense_P619R exm265381 2 219301236 [T/C] NM_007127 VIL1 EXON Missense_R620W exm1998684 2 219301237 [A/G] NM_007127 VIL1 EXON Missense_R620Q exm265382 2 219301266 [T/C] NM_007127 VIL1 EXON Missense_R630C exm265383 2 219301267 [A/G] NM_007127 VIL1 EXON Missense_R630H exm265394 2 219303399 [G/C] NM_007127 VIL1 EXON Missense_D727H exm265396 2 219303450 [A/G] NM_007127 VIL1 Silent exm265402 2 219305537 [A/C] NM_007127 VIL1 EXON Missense_N774K exm265411 2 219319657 [A/G] NM_020935 USP37 EXON Missense_L979S exm265412 2 219319666 [T/C] NM_020935 USP37 EXON Missense_R976H exm265430 2 219341618 [G/C] NM_020935 USP37 EXON Missense_S663T exm265444 2 219360547 [T/C] NM_020935 USP37 EXON Missense_A470T exm265445 2 219362467 [T/C] NM_020935 USP37 EXON Missense_Y424C exm265454 2 219374729 [A/G] NM_020935 USP37 EXON Missense_S333F exm265456 2 219374744 [C/G] NM_020935 USP37 EXON Missense_P328R exm265457 2 219374760 [T/C] NM_020935 USP37 EXON Missense_T323A exm265458 2 219374777 [T/C] NM_020935 USP37 EXON Missense_R317K exm265473 2 219411735 [A/G] NM_020935 USP37 EXON Missense_S170L exm265474 2 219414560 [G/C] NM_020935 USP37 EXON Missense_S134T exm265478 2 219418293 [T/C] NM_020935 USP37 EXON Missense_Q104R exm265510 2 219480678 [A/G] NM_032726 PLCD4 EXON Missense_R25H exm265512 2 219480722 [T/C] NM_032726 PLCD4 EXON Missense_L40F exm265523 2 219483412 [T/C] NM_032726 PLCD4 EXON Missense_R98C exm265526 2 219483469 [T/C] NM_032726 PLCD4 EXON Nonsense_R117X exm265529 2 219483506 [T/C] NM_032726 PLCD4 EXON Missense_M129T exm265531 2 219483526 [G/C] NM_032726 PLCD4 EXON Missense_D136H exm265535 2 219486203 [A/G] NM_032726 PLCD4 EXON Missense_D141N exm265548 2 219492952 [T/C] NM_032726 PLCD4 EXON Missense_R325W exm265549 2 219492953 [A/G] NM_032726 PLCD4 EXON Missense_R325Q exm265551 2 219494261 [T/C] NM_032726 PLCD4 EXON Missense_R332C exm265555 2 219495382 [T/C] NM_032726 PLCD4 EXON Missense_Y377H exm265556 2 219495414 [A/C] NM_032726 PLCD4 EXON Nonsense_C387X exm265557 2 219495439 [T/G] NM_032726 PLCD4 EXON Missense_A396S exm265569 2 219497011 [A/C] NM_032726 PLCD4 EXON Missense_N475K exm2237088 2 219498367 [G/C] NM_032726 PLCD4 EXON Missense_V497L exm265573 2 219498394 [T/C] NM_032726 PLCD4 EXON Missense_R506C exm265586 2 219498943 [A/G] NM_032726 PLCD4 EXON Missense_M574I exm1998893 2 219500606 [A/G] NM_032726 PLCD4 EXON Missense_V662I exm265613 2 219503220 [T/C] NR_073599,NM_001105537,NR_073600 ZNF142,ZNF142,ZNF142 EXON Silent,Missense_V1636M,Silent exm265621 2 219503348 [A/T] NR_073599,NM_001105537,NR_073600 ZNF142,ZNF142,ZNF142 EXON Silent,Missense_Y1593F,Silent exm265627 2 219503420 [T/C] NR_073599,NM_001105537,NR_073600 ZNF142,ZNF142,ZNF142 EXON Silent,Missense_Q1569R,Silent exm265631 2 219505465 [A/G] NR_073599,NM_001105537,NR_073600 ZNF142,ZNF142,ZNF142 EXON Silent,Missense_R1506W,Silent exm265646 2 219507148 [C/G] NR_073599,NM_001105537,NR_073600 ZNF142,ZNF142,ZNF142 EXON Silent,Missense_P1364R,Silent exm265649 2 219507166 [A/G] NR_073599,NM_001105537,NR_073600 ZNF142,ZNF142,ZNF142 EXON Silent,Missense_A1358V,Silent exm265652 2 219507197 [A/G] NR_073599,NM_001105537,NR_073600 ZNF142,ZNF142,ZNF142 EXON Silent,Missense_R1348C,Silent exm265657 2 219507302 [T/C] NR_073599,NM_001105537,NR_073600 ZNF142,ZNF142,ZNF142 EXON Silent,Missense_A1313T,Silent exm265663 2 219507434 [A/G] NR_073599,NM_001105537,NR_073600 ZNF142,ZNF142,ZNF142 EXON Silent,Missense_R1269C,Silent exm265669 2 219507508 [T/C] NR_073599,NM_001105537,NR_073600 ZNF142,ZNF142,ZNF142 EXON Silent,Missense_R1244H,Silent exm265684 2 219507670 [T/C] NR_073599,NM_001105537,NR_073600 ZNF142,ZNF142,ZNF142 EXON Silent,Missense_R1190Q,Silent exm265690 2 219507745 [T/C] NR_073599,NM_001105537,NR_073600 ZNF142,ZNF142,ZNF142 EXON Silent,Missense_R1165H,Silent exm265691 2 219507748 [T/G] NR_073599,NM_001105537,NR_073600 ZNF142,ZNF142,ZNF142 EXON Silent,Missense_A1164D,Silent exm265694 2 219507866 [A/G] NR_073599,NM_001105537,NR_073600 ZNF142,ZNF142,ZNF142 EXON Silent,Missense_R1125W,Silent exm265703 2 219508076 [T/C] NR_073599,NM_001105537,NR_073600 ZNF142,ZNF142,ZNF142 EXON Silent,Missense_G1055R,Silent exm265705 2 219508081 [T/C] NR_073599,NM_001105537,NR_073600 ZNF142,ZNF142,ZNF142 EXON Silent,Missense_R1053H,Silent exm265713 2 219508180 [T/C] NR_073599,NM_001105537,NR_073600 ZNF142,ZNF142,ZNF142 EXON Silent,Missense_R1020H,Silent exm265714 2 219508199 [T/C] NR_073599,NM_001105537,NR_073600 ZNF142,ZNF142,ZNF142 EXON Silent,Missense_E1014K,Silent exm265715 2 219508211 [A/G] NR_073599,NM_001105537,NR_073600 ZNF142,ZNF142,ZNF142 EXON Silent,Missense_S1010P,Silent exm265721 2 219508253 [A/G] NR_073599,NM_001105537,NR_073600 ZNF142,ZNF142,ZNF142 EXON Silent,Missense_P996S,Silent exm265729 2 219508360 [G/C] NR_073599,NM_001105537,NR_073600 ZNF142,ZNF142,ZNF142 EXON Silent,Missense_S960C,Silent exm265730 2 219508372 [A/T] NR_073599,NM_001105537,NR_073600 ZNF142,ZNF142,ZNF142 EXON Silent,Missense_L956H,Silent exm265734 2 219508523 [T/G] NR_073599,NM_001105537,NR_073600 ZNF142,ZNF142,ZNF142 EXON Silent,Missense_I906L,Silent exm1998955 2 219508655 [A/G] NR_073599,NM_001105537,NR_073600 ZNF142,ZNF142,ZNF142 EXON Silent,Missense_R862C,Silent exm265752 2 219508988 [T/C] NR_073599,NM_001105537,NR_073600 ZNF142,ZNF142,ZNF142 EXON Silent,Missense_S751G,Silent exm265757 2 219509078 [T/C] NR_073599,NM_001105537,NR_073600 ZNF142,ZNF142,ZNF142 EXON Silent,Missense_M721V,Silent exm265761 2 219509285 [A/C] NR_073599,NM_001105537,NR_073600 ZNF142,ZNF142,ZNF142 EXON Silent,Missense_L652V,Silent exm265770 2 219509579 [A/G] NR_073599,NM_001105537,NR_073600 ZNF142,ZNF142,ZNF142 EXON Silent,Missense_R554C,Silent exm265772 2 219509618 [A/C] NR_073599,NM_001105537,NR_073600 ZNF142,ZNF142,ZNF142 EXON Silent,Missense_A541S,Silent exm265781 2 219510928 [A/G] NR_073599,NM_001105537,NR_073600 ZNF142,ZNF142,ZNF142 EXON Silent,Missense_R473C,Silent exm265790 2 219513359 [A/C] NR_073599,NM_001105537,NR_073600 ZNF142,ZNF142,ZNF142 EXON Silent,Synonymous_T424T,Silent exm265795 2 219513513 [T/C] NR_073599,NM_001105537,NR_073600 ZNF142,ZNF142,ZNF142 EXON Silent,Missense_R373H,Silent exm265801 2 219513675 [T/C] NR_073599,NM_001105537,NR_073600 ZNF142,ZNF142,ZNF142 EXON Silent,Missense_R319H,Silent exm265821 2 219515091 [A/G] NR_073599,NM_001105537,NR_073600 ZNF142,ZNF142,ZNF142 EXON Silent,Missense_R147W,Silent exm265822 2 219515103 [T/G] NR_073599,NM_001105537,NR_073600 ZNF142,ZNF142,ZNF142 EXON Silent,Missense_Q143K,Silent exm265823 2 219515109 [T/G] NR_073599,NM_001105537,NR_073600 ZNF142,ZNF142,ZNF142 EXON Silent,Missense_K141Q,Silent exm265830 2 219520941 [T/C] NR_073599,NM_001105537,NR_073600 ZNF142,ZNF142,ZNF142 EXON Silent,Missense_G71E,Silent exm265839 2 219521058 [C/G] NR_073599,NM_001105537,NR_073600 ZNF142,ZNF142,ZNF142 EXON Silent,Missense_S32C,Silent exm265841 2 219521110 [T/C] NR_073599,NM_001105537,NR_073600 ZNF142,ZNF142,ZNF142 EXON Silent,Missense_G15R,Silent exm265843 2 219521128 [A/G] NR_073599,NM_001105537,NR_073600 ZNF142,ZNF142,ZNF142 EXON Silent,Nonsense_Q9X,Silent exm265851 2 219525876 [T/C] NM_004328,NM_001257343,NM_001257344,NM_001079866,NM_001257342 BCS1L,BCS1L,BCS1L,BCS1L,BCS1L EXON Nonsense_R56X,Nonsense_R56X,Nonsense_R56X,Nonsense_R56X,Nonsense_R56X exm265855 2 219525942 [A/G] NM_004328,NM_001257343,NM_001257344,NM_001079866,NM_001257342 BCS1L,BCS1L,BCS1L,BCS1L,BCS1L EXON Missense_S78G,Missense_S78G,Missense_S78G,Missense_S78G,Missense_S78G exm265884 2 219526634 [A/G] NM_004328,NM_001257343,NM_001257344,NM_001079866,NM_001257342 BCS1L,BCS1L,BCS1L,BCS1L,BCS1L EXON Missense_V205I,Missense_V205I,Missense_V205I,Missense_V205I,Missense_V205I exm265886 2 219526649 [A/G] NM_004328,NM_001257343,NM_001257344,NM_001079866,NM_001257342 BCS1L,BCS1L,BCS1L,BCS1L,BCS1L EXON Missense_D210N,Missense_D210N,Missense_D210N,Missense_D210N,Missense_D210N exm2254987 2 219526666 [T/C] NM_004328,NM_001257343,NM_001257344,NM_001079866,NM_001257342 BCS1L,BCS1L,BCS1L,BCS1L,BCS1L EXON Synonymous_Y215Y,Synonymous_Y215Y,Synonymous_Y215Y,Synonymous_Y215Y,Synonymous_Y215Y exm1999002 2 219527288 [A/T] NM_004328,NM_001257343,NM_001257344,NM_001079866,NM_001257342 BCS1L,BCS1L,BCS1L,BCS1L,BCS1L EXON Missense_S259T,Missense_S259T,Missense_S259T,Missense_S259T,Missense_S259T exm265908 2 219527641 [T/C] NM_004328,NM_001257343,NM_001257344,NM_001079866,NM_001257342 BCS1L,BCS1L,BCS1L,BCS1L,BCS1L EXON Missense_F309L,Missense_F309L,Missense_F309L,Missense_F309L,Missense_F309L exm265917 2 219527716 [A/G] NM_004328,NM_001257343,NM_001257344,NM_001079866,NM_001257342 BCS1L,BCS1L,BCS1L,BCS1L,BCS1L EXON Missense_V334I,Missense_V334I,Missense_V334I,Missense_V334I,Missense_V334I exm265933 2 219528732 [T/C] NM_022453 RNF25 EXON Missense_R443Q exm265935 2 219528760 [A/G] NM_022453 RNF25 EXON Missense_R434C exm265936 2 219528762 [C/G] NM_022453 RNF25 EXON Missense_P433R exm1999009 2 219528775 [T/C] NM_022453 RNF25 EXON Missense_G429S exm265938 2 219528795 [T/C] NM_022453 RNF25 EXON Missense_R422H exm265939 2 219528816 [T/C] NM_022453 RNF25 EXON Missense_R415Q exm265940 2 219528817 [A/G] NM_022453 RNF25 EXON Missense_R415W exm265941 2 219528898 [C/G] NM_022453 RNF25 EXON Missense_E388Q exm1999010 2 219528917 [G/C] NM_022453 RNF25 EXON Missense_E381D exm265942 2 219528936 [A/G] NM_022453 RNF25 EXON Missense_P375L exm265947 2 219529005 [T/C] NM_022453 RNF25 EXON Missense_R352Q exm265949 2 219529041 [T/G] NM_022453 RNF25 EXON Missense_P340H exm265952 2 219529110 [T/C] NM_022453 RNF25 EXON Missense_E317G exm265954 2 219529140 [A/G] NM_022453 RNF25 EXON Missense_P307L exm265956 2 219529162 [T/C] NM_022453 RNF25 EXON Missense_V300I exm265968 2 219529520 [T/C] NM_022453 RNF25 EXON Missense_R248Q exm265974 2 219529924 [T/G] NM_022453 RNF25 EXON Missense_Y207S exm265978 2 219530662 [A/G] NM_022453 RNF25 EXON Missense_R184W exm265980 2 219530673 [T/C] NM_022453 RNF25 EXON Missense_Q180R exm265981 2 219530703 [T/C] NM_022453 RNF25 EXON Missense_E170G exm265988 2 219532682 [T/C] NM_022453 RNF25 EXON Missense_V104M exm265994 2 219532975 [T/C] NM_022453 RNF25 EXON Missense_Q69R exm266023 2 219540127 [T/C] NM_015690,NM_001243313 STK36,STK36 EXON Missense_L122P,Missense_L122P exm266034 2 219540919 [A/G] NM_015690,NM_001243313 STK36,STK36 EXON Missense_Y201C,Missense_Y201C exm2237096 2 219543924 [T/C] NM_015690,NM_001243313 STK36,STK36 EXON Missense_R240W,Missense_R240W exm266047 2 219544388 [A/G] NM_015690,NM_001243313 STK36,STK36 EXON Missense_K295R,Missense_K295R exm266050 2 219544398 [C/G] NM_015690,NM_001243313 STK36,STK36 EXON Missense_Q298H,Missense_Q298H exm266056 2 219544658 [A/C] NM_015690,NM_001243313 STK36,STK36 EXON Missense_T331P,Missense_T331P exm266060 2 219544733 [A/G] NM_015690,NM_001243313 STK36,STK36 EXON Missense_G356R,Missense_G356R exm266069 2 219549816 [A/C] NM_015690,NM_001243313 STK36,STK36 EXON Missense_D415E,Missense_D415E exm266072 2 219549901 [T/C] NM_015690,NM_001243313 STK36,STK36 EXON Missense_P444S,Missense_P444S exm1999062 2 219549910 [T/C] NM_015690,NM_001243313 STK36,STK36 EXON Missense_C447R,Missense_C447R exm266074 2 219553423 [G/C] NM_015690,NM_001243313 STK36,STK36 EXON Missense_L462V,Missense_L462V exm266076 2 219553432 [A/G] NM_015690,NM_001243313 STK36,STK36 EXON Missense_I465V,Missense_I465V exm266079 2 219553468 [T/C] NM_015690,NM_001243313 STK36,STK36 EXON Missense_R477W,Missense_R477W exm266083 2 219553528 [C/G] NM_015690,NM_001243313 STK36,STK36 EXON Missense_R497G,Missense_R497G exm266084 2 219553529 [A/G] NM_015690,NM_001243313 STK36,STK36 EXON Missense_R497Q,Missense_R497Q exm266096 2 219555199 [A/G] NM_015690,NM_001243313 STK36,STK36 EXON Missense_N562S,Missense_N562S exm266097 2 219555262 [A/G] NM_015690,NM_001243313 STK36,STK36 EXON Missense_R583Q,Missense_R583Q exm266100 2 219556906 [A/G] NM_015690,NM_001243313 STK36,STK36 EXON Missense_R602Q,Missense_R602Q exm266106 2 219557014 [A/C] NM_015690,NM_001243313 STK36,STK36 EXON Missense_Q638P,Missense_Q638P exm266109 2 219557312 [T/C] NM_015690,NM_001243313 STK36,STK36 EXON Missense_P641L,Missense_P641L exm266130 2 219558661 [A/G] NM_015690,NM_001243313 STK36,STK36 EXON Missense_Y764C,Missense_Y764C exm266135 2 219558989 [T/C] NM_015690,NM_001243313 STK36,STK36 EXON Missense_M780T,Missense_M780T exm266143 2 219561254 [A/G] NM_015690,NM_001243313 STK36,STK36 EXON Missense_R839Q,Silent exm266154 2 219561883 [T/C] NM_015690,NM_001243313 STK36,STK36 EXON Missense_S903L,Missense_S882L exm266172 2 219562629 [T/C] NM_015690,NM_001243313 STK36,STK36 EXON Missense_L988F,Missense_L967F exm266175 2 219562675 [A/G] NM_015690,NM_001243313 STK36,STK36 EXON Missense_G1003D,Missense_G982D exm266191 2 219563602 [A/G] NM_015690,NM_001243313 STK36,STK36 EXON Missense_R1112Q,Missense_R1091Q exm266202 2 219563893 [A/G] NM_015690,NM_001243313 STK36,STK36 EXON Missense_R1209Q,Missense_R1188Q exm266207 2 219563958 [T/G] NM_015690,NM_001243313 STK36,STK36 EXON Missense_C1231G,Missense_C1210G exm266215 2 219564067 [A/G] NM_015690,NM_001243313 STK36,STK36 EXON Missense_H1267R,Missense_H1246R exm266216 2 219566622 [T/C] NM_015690,NM_001243313 STK36,STK36 EXON Missense_S1280P,Missense_S1259P exm266217 2 219566647 [T/C] NM_015690,NM_001243313 STK36,STK36 EXON Missense_S1288L,Missense_S1267L exm266224 2 219602497 [G/C] NM_014640 TTLL4 EXON Missense_P33R exm266229 2 219602540 [T/G] NM_014640 TTLL4 EXON Missense_Q47H exm2273857 2 219602743 [T/C] NM_014640 TTLL4 EXON Missense_T115I exm266234 2 219602754 [T/C] NM_014640 TTLL4 EXON Missense_R119C exm266235 2 219602757 [T/C] NM_014640 TTLL4 EXON Missense_R120C exm266243 2 219602887 [T/C] NM_014640 TTLL4 EXON Missense_T163I exm266250 2 219603037 [A/G] NM_014640 TTLL4 EXON Missense_Y213C exm266255 2 219603082 [T/C] NM_014640 TTLL4 EXON Missense_T228M exm266276 2 219603531 [T/C] NM_014640 TTLL4 EXON Missense_R378W exm266277 2 219603546 [C/G] NM_014640 TTLL4 EXON Missense_A383P exm266278 2 219603557 [T/G] NM_014640 TTLL4 EXON Missense_Q386H exm266279 2 219603583 [T/C] NM_014640 TTLL4 EXON Missense_S395L exm266281 2 219603652 [A/G] NM_014640 TTLL4 EXON Missense_R418H exm266286 2 219603790 [A/G] NM_014640 TTLL4 EXON Missense_N464S exm1999124 2 219604825 [T/C] NM_014640 TTLL4 EXON Missense_T511I exm266292 2 219604833 [A/G] NM_014640 TTLL4 EXON Missense_E514K exm266299 2 219605300 [A/C] NM_014640 TTLL4 EXON Missense_I552L exm266302 2 219609878 [A/G] NM_014640 TTLL4 EXON Missense_V570I exm266306 2 219609920 [T/C] NM_014640 TTLL4 EXON Missense_P584S exm2254988 2 219611857 [T/C] NM_014640 TTLL4 EXON Synonymous_D702D exm266326 2 219611871 [A/G] NM_014640 TTLL4 EXON Missense_R707H exm266327 2 219611877 [T/C] NM_014640 TTLL4 EXON Missense_A709V exm2254989 2 219613607 [T/C] NM_014640 TTLL4 EXON Synonymous_S850S exm266352 2 219613650 [A/G] NM_014640 TTLL4 EXON Missense_I865V exm266353 2 219613658 [G/C] NM_014640 TTLL4 Silent exm266359 2 219614020 [A/G] NM_014640 TTLL4 EXON Missense_R882Q exm266360 2 219614067 [A/G] NM_014640 TTLL4 EXON Missense_E898K exm266363 2 219614737 [A/G] NM_014640 TTLL4 EXON Missense_H914R exm1999150 2 219614850 [T/G] NM_014640 TTLL4 EXON Missense_C952G exm266368 2 219614866 [T/C] NM_014640 TTLL4 EXON Missense_T957I exm2237100 2 219616522 [G/C] NM_014640 TTLL4 EXON Missense_P990R exm266376 2 219617523 [A/G] NM_014640 TTLL4 EXON Missense_D1005G exm266380 2 219617618 [T/C] NM_014640 TTLL4 EXON Missense_R1037C exm266390 2 219617897 [T/G] NM_014640 TTLL4 EXON Missense_S1083A exm266392 2 219617907 [T/G] NM_014640 TTLL4 EXON Missense_V1086G exm266394 2 219618349 [A/G] NM_014640 TTLL4 EXON Missense_V1101M exm266396 2 219618382 [A/G] NM_014640 TTLL4 EXON Missense_S1112G exm266399 2 219618888 [T/C] NM_014640 TTLL4 EXON Missense_L1126F exm266405 2 219618925 [T/C] NM_014640 TTLL4 EXON Missense_T1138I exm266409 2 219619080 [T/A] NM_014640 TTLL4 EXON Missense_I1190F exm266410 2 219619099 [A/C] NM_014640 TTLL4 EXON Missense_A1196D exm266416 2 219647053 [A/G] NM_000784 CYP27A1 EXON Missense_V50I exm266419 2 219647120 [T/A] NM_000784 CYP27A1 EXON Missense_L72Q exm1999171 2 219676989 [A/G] NM_000784 CYP27A1 EXON Missense_R164Q exm2275630 2 219677004 [A/C] NM_000784 CYP27A1 EXON Missense_A169E exm266435 2 219677013 [T/C] NM_000784 CYP27A1 EXON Missense_A172V exm266437 2 219677022 [T/C] NM_000784 CYP27A1 EXON Missense_T175M exm266438 2 219677034 [A/G] NM_000784 CYP27A1 EXON Missense_N179S exm266439 2 219677044 [T/G] NM_000784 CYP27A1 EXON Missense_I182M exm1999175 2 219677076 [A/G] NM_000784 CYP27A1 EXON Missense_R193Q exm1999176 2 219677106 [T/C] NM_000784 CYP27A1 EXON Missense_S203L exm266444 2 219677301 [T/C] NM_000784 CYP27A1 EXON Missense_R225C exm266447 2 219677331 [A/G] NM_000784 CYP27A1 EXON Missense_E235K exm266450 2 219677340 [A/G] NM_000784 CYP27A1 EXON Missense_V238M exm266460 2 219677436 [T/C] NM_000784 CYP27A1 EXON Nonsense_R270X exm1999183 2 219677673 [A/G] NM_000784 CYP27A1 EXON Missense_E291K exm266482 2 219678828 [T/G] NM_000784 CYP27A1 EXON Missense_V368L exm266486 2 219678877 [T/C] NM_000784 CYP27A1 EXON Missense_P384L exm266488 2 219678909 [T/C] NM_000784 CYP27A1 EXON Missense_R395C exm266497 2 219679301 [T/C] NM_000784 CYP27A1 EXON Missense_R433W exm266508 2 219679662 [A/C] NM_000784 CYP27A1 EXON Missense_A502D exm266509 2 219679695 [A/G] NM_000784 CYP27A1 EXON Missense_R513H exm266515 2 219679721 [A/G] NM_000784 CYP27A1 EXON Missense_V522M exm266519 2 219688502 [T/C] NM_017431 PRKAG3 EXON Missense_D485N exm266520 2 219688510 [A/G] NM_017431 PRKAG3 EXON Missense_A482V exm266521 2 219688523 [T/C] NM_017431 PRKAG3 EXON Missense_V478M exm266524 2 219688568 [A/G] NM_017431 PRKAG3 EXON Missense_H463Y exm266529 2 219688961 [A/C] NM_017431 PRKAG3 EXON Missense_R446M exm266552 2 219691801 [A/G] NM_017431 PRKAG3 EXON Missense_R340W exm266554 2 219691812 [A/G] NM_017431 PRKAG3 EXON Missense_S336F exm266555 2 219692022 [T/C] NM_017431 PRKAG3 EXON Missense_N317S exm266565 2 219692354 [T/C] NM_017431 PRKAG3 Silent exm266566 2 219692597 [T/C] NM_017431 PRKAG3 EXON Missense_Q260R exm1999223 2 219692747 [A/G] NM_017431 PRKAG3 EXON Missense_R252C exm266574 2 219693243 [A/C] NM_017431 PRKAG3 EXON Synonymous_V238V exm266576 2 219693290 [T/C] NM_017431 PRKAG3 EXON Missense_G223S exm2269372 2 219693856 [T/C] NM_017431 PRKAG3 Silent exm266584 2 219694751 [T/C] NM_017431 PRKAG3 EXON Missense_D195N exm266597 2 219694846 [A/G] NM_017431 PRKAG3 EXON Missense_P163L exm266599 2 219694877 [C/G] NM_017431 PRKAG3 EXON Missense_L153V exm266633 2 219735776 [A/C] NM_006522 WNT6 EXON Missense_D36E exm266636 2 219735876 [G/C] NM_006522 WNT6 EXON Missense_R70G exm266662 2 219738458 [A/G] NM_006522 WNT6 EXON Missense_R330H exm1999273 2 219746894 [A/G] NM_025216 WNT10A EXON Missense_N42S exm266671 2 219746918 [T/C] NM_025216 WNT10A EXON Missense_P50L exm266676 2 219746977 [T/C] NM_025216 WNT10A EXON Missense_R70W exm266682 2 219747090 [A/C] NM_025216 WNT10A EXON Nonsense_C107X exm266684 2 219747106 [T/C] NM_025216 WNT10A EXON Missense_R113C exm266690 2 219754737 [C/G] NM_025216 WNT10A EXON Missense_I136M exm266692 2 219754756 [T/C] NM_025216 WNT10A EXON Missense_H143Y exm266696 2 219754789 [A/C] NM_025216 WNT10A EXON Missense_L154M exm266703 2 219754822 [A/G] NM_025216 WNT10A EXON Missense_G165R exm266705 2 219754828 [A/G] NM_025216 WNT10A EXON Missense_E167K exm266706 2 219754840 [T/C] NM_025216 WNT10A EXON Missense_R171C exm2237107 2 219754841 [A/G] NM_025216 WNT10A EXON Missense_R171H exm266707 2 219754843 [A/T] NM_025216 WNT10A EXON Missense_R172W exm266714 2 219754978 [A/G] NM_025216 WNT10A EXON Missense_D217N exm266718 2 219755011 [T/A] NM_025216 WNT10A EXON Missense_F228I exm266721 2 219755048 [T/C] NM_025216 WNT10A EXON Missense_A240V exm-rs7349332 2 219756383 [T/C] NM_025216 WNT10A Silent exm266728 2 219757556 [A/C] NM_025216 WNT10A EXON Missense_L273I exm266734 2 219824571 [T/C] NM_003936 CDK5R2 EXON Missense_A10V exm266761 2 219825640 [A/C] NM_003936 CDK5R2 EXON Missense_D366E exm266787 2 219854997 [A/G] NM_057093,NM_057094 CRYBA2,CRYBA2 EXON Missense_S191P,Missense_S191P exm266790 2 219855062 [T/C] NM_057093,NM_057094 CRYBA2,CRYBA2 EXON Missense_R169Q,Missense_R169Q exm266794 2 219855573 [T/C] NM_057093,NM_057094 CRYBA2,CRYBA2 Silent,Silent exm266808 2 219856873 [G/C] NM_057093,NM_057094 CRYBA2,CRYBA2 EXON Missense_S85T,Missense_S85T exm266812 2 219856889 [T/C] NM_057093,NM_057094 CRYBA2,CRYBA2 EXON Missense_A80T,Missense_A80T exm1999364 2 219857798 [A/G] NM_057093,NM_057094 CRYBA2,CRYBA2 EXON Missense_A34V,Missense_A34V exm266830 2 219868693 [T/C] NR_046086,NM_194302 LOC100129175,CCDC108 EXON Silent,Missense_E1846K exm266836 2 219868786 [T/C] NR_046086,NM_194302 LOC100129175,CCDC108 EXON Silent,Missense_G1815R exm266842 2 219868816 [T/C] NR_046086,NM_194302 LOC100129175,CCDC108 EXON Silent,Missense_K1805E exm266843 2 219868819 [T/C] NR_046086,NM_194302 LOC100129175,CCDC108 EXON Silent,Missense_E1804K exm266852 2 219869002 [T/C] NR_046086,NM_194302 LOC100129175,CCDC108 EXON Silent,Missense_G1743S exm266853 2 219869043 [C/G] NR_046086,NM_194302 LOC100129175,CCDC108 EXON Silent,Missense_P1729R exm266856 2 219869076 [A/C] NR_046086,NM_194302 LOC100129175,CCDC108 EXON Silent,Missense_F1718C exm1999393 2 219869101 [A/G] NR_046086,NM_194302 LOC100129175,CCDC108 EXON Silent,Missense_F1710L exm266859 2 219869107 [A/G] NR_046086,NM_194302 LOC100129175,CCDC108 EXON Silent,Missense_R1708C exm266861 2 219869133 [T/C] NR_046086,NM_194302 LOC100129175,CCDC108 EXON Silent,Missense_S1699N exm266864 2 219870241 [A/G] NR_046086,NM_194302 LOC100129175,CCDC108 EXON Silent,Missense_S1656P exm1999398 2 219870744 [A/G] NR_046086,NM_194302 LOC100129175,CCDC108 EXON Silent,Missense_R1641W exm266876 2 219871207 [T/C] NR_046086,NM_194302 LOC100129175,CCDC108 EXON Silent,Missense_E1567K exm266880 2 219873809 [T/C] NR_046086,NM_194302 LOC100129175,CCDC108 EXON Silent,Missense_R1545Q exm266888 2 219873876 [A/G] NR_046086,NM_194302 LOC100129175,CCDC108 EXON Silent,Synonymous_L1523L exm266889 2 219874086 [T/C] NR_046086,NM_194302 LOC100129175,CCDC108 EXON Silent,Missense_A1517T exm2254992 2 219874138 [T/C] NR_046086,NM_194302 LOC100129175,CCDC108 EXON Silent,Synonymous_T1499T exm266892 2 219874157 [A/G] NR_046086,NM_194302 LOC100129175,CCDC108 EXON Silent,Missense_V1493A exm266895 2 219874697 [T/G] NR_046086,NM_194302 LOC100129175,CCDC108 EXON Silent,Missense_F1473L exm266898 2 219874723 [T/C] NR_046086,NM_194302 LOC100129175,CCDC108 EXON Silent,Missense_I1465V exm266918 2 219875693 [A/G] NR_046086,NM_194302 LOC100129175,CCDC108 EXON Silent,Missense_S1328L exm266919 2 219875718 [A/T] NR_046086,NM_194302 LOC100129175,CCDC108 EXON Silent,Missense_I1320F exm266920 2 219877985 [T/C] NR_046086,NM_194302 LOC100129175,CCDC108 EXON Silent,Missense_R1318Q exm266932 2 219878616 [A/C] NR_046086,NM_194302 LOC100129175,CCDC108 EXON Silent,Missense_Q1251H exm266937 2 219878668 [T/C] NR_046086,NM_194302 LOC100129175,CCDC108 EXON Silent,Missense_D1234G exm266943 2 219878732 [T/C] NR_046086,NM_194302 LOC100129175,CCDC108 EXON Silent,Missense_V1213M exm266944 2 219878756 [A/G] NR_046086,NM_194302 LOC100129175,CCDC108 EXON Silent,Missense_L1205F exm266953 2 219883882 [T/C] NM_194302 CCDC108 EXON Missense_V1165I exm266962 2 219884406 [T/C] NM_194302 CCDC108 EXON Missense_V1099I exm266967 2 219885909 [A/G] NM_194302 CCDC108 EXON Missense_S1075F exm266970 2 219885964 [A/G] NM_194302 CCDC108 EXON Missense_R1057W exm266975 2 219886553 [A/G] NM_194302 CCDC108 EXON Missense_R1027C exm266985 2 219887050 [A/G] NM_194302 CCDC108 EXON Missense_T941M exm266990 2 219887984 [T/C] NM_194302 CCDC108 EXON Missense_R922Q exm266996 2 219888135 [A/G] NM_194302 CCDC108 EXON Missense_R872W exm266997 2 219888742 [T/G] NM_194302 CCDC108 EXON Missense_L864I exm266998 2 219888753 [G/C] NM_194302 CCDC108 EXON Missense_S860C exm267002 2 219888865 [A/G] NM_194302 CCDC108 EXON Missense_R823W exm267005 2 219888894 [A/G] NM_194302 CCDC108 EXON Missense_A813V exm267007 2 219888915 [T/A] NM_194302 CCDC108 EXON Missense_K806M exm267008 2 219888924 [T/C] NM_194302 CCDC108 EXON Missense_K803R exm267011 2 219888945 [T/C] NM_194302 CCDC108 EXON Missense_R796H exm267018 2 219890814 [T/C] NM_194302 CCDC108 EXON Missense_R760Q exm1999476 2 219892470 [T/C] NM_194302 CCDC108 EXON Missense_V705M exm267039 2 219892500 [A/G] NM_194302 CCDC108 EXON Missense_P695S exm267042 2 219892569 [T/C] NM_194302 CCDC108 EXON Missense_V672I exm267044 2 219892626 [T/C] NM_194302 CCDC108 EXON Missense_V653I exm267052 2 219892924 [T/C] NM_194302 CCDC108 EXON Missense_Q617R exm267053 2 219892928 [T/C] NM_194302 CCDC108 EXON Missense_I616V exm267071 2 219894260 [T/G] NM_194302 CCDC108 EXON Nonsense_C505X exm267073 2 219894286 [T/C] NM_194302 CCDC108 EXON Missense_A497T exm267077 2 219894330 [T/C] NM_194302 CCDC108 EXON Missense_R482H exm1999495 2 219894893 [A/T] NM_194302 CCDC108 EXON Missense_E400V exm267105 2 219895514 [A/G] NM_194302 CCDC108 EXON Missense_P353L exm267107 2 219895548 [A/C] NM_194302 CCDC108 EXON Missense_A342S exm267116 2 219895896 [T/G] NM_194302 CCDC108 EXON Missense_E316A exm267119 2 219895968 [A/G] NM_194302 CCDC108 EXON Missense_T292M exm267132 2 219897193 [A/G] NM_194302 CCDC108 EXON Missense_A215V exm267139 2 219900068 [T/C] NM_194302,NM_152389 CCDC108,CCDC108 EXON Silent,Missense_V161M exm267142 2 219900119 [T/G] NM_194302,NM_152389 CCDC108,CCDC108 EXON Silent,Missense_Q144K exm267143 2 219900123 [T/G] NM_194302,NM_152389 CCDC108,CCDC108 EXON Silent,Missense_N142K exm267146 2 219900232 [T/C] NM_194302,NM_152389 CCDC108,CCDC108 EXON Missense_R171Q,Missense_R106Q exm267151 2 219900314 [T/C] NM_194302,NM_152389 CCDC108,CCDC108 EXON Missense_G144S,Missense_G79S exm267152 2 219900320 [T/G] NM_194302,NM_152389 CCDC108,CCDC108 EXON Missense_I142L,Missense_I77L exm267153 2 219900335 [T/C] NM_194302,NM_152389 CCDC108,CCDC108 EXON Missense_V137M,Missense_V72M exm267154 2 219900350 [T/C] NM_194302,NM_152389 CCDC108,CCDC108 EXON Missense_K132E,Missense_K67E exm267176 2 219903246 [A/G] NM_194302,NM_152389 CCDC108,CCDC108 EXON Nonsense_Q70X,Nonsense_Q5X exm267177 2 219903258 [T/G] NM_194302,NM_152389 CCDC108,CCDC108 EXON Missense_M66L,Missense_M1L exm267180 2 219903618 [T/C] NM_194302,NM_152389 CCDC108,CCDC108 EXON Synonymous_K51K,Silent exm267181 2 219903664 [T/C] NM_194302,NM_152389 CCDC108,CCDC108 EXON Missense_G36D,Silent exm267182 2 219903673 [T/A] NM_194302,NM_152389 CCDC108,CCDC108 EXON Missense_L33H,Silent exm2269221 2 219903723 [T/C] NM_194302,NM_152389 CCDC108,CCDC108 EXON Synonymous_V16V,Silent exm-rs12470505 2 219908369 [T/G] exm267192 2 219919996 [T/C] NM_002181 IHH EXON Missense_R390H exm267196 2 219920114 [T/C] NM_002181 IHH EXON Missense_V351M exm267211 2 219920410 [T/C] NM_002181 IHH EXON Missense_H252R exm2254995 2 219920412 [A/G] NM_002181 IHH EXON Synonymous_P251P exm2254996 2 219920547 [A/G] NM_002181 IHH EXON Synonymous_A206A exm267231 2 219924961 [T/G] NM_002181 IHH EXON Missense_R77S exm-rs1052483 2 219934348 [T/G] exm267240 2 219941173 [A/G] NM_024782 NHEJ1 EXON Missense_T277I exm-rs6724465 2 219943846 [A/G] NM_024782 NHEJ1 Silent exm-rs16859517 2 219949184 [T/C] NM_024782 NHEJ1 Silent exm267258 2 220011430 [T/C] NM_024782 NHEJ1 EXON Missense_N187S exm267267 2 220022325 [T/C] NM_024782 NHEJ1 EXON Missense_A87T exm267273 2 220022915 [T/C] NM_024782 NHEJ1 EXON Missense_R57Q exm267278 2 220023045 [T/C] NM_024782 NHEJ1 EXON Missense_A14T exm267281 2 220026686 [C/G] NM_001144889,NM_001144890,NM_144712 SLC23A3,SLC23A3,SLC23A3 EXON Missense_G593A,Missense_G601A,Missense_G476A exm267294 2 220028192 [T/A] NM_001144889,NM_001144890,NM_144712 SLC23A3,SLC23A3,SLC23A3 EXON Missense_N453K,Missense_N461K,Missense_N336K exm2237115 2 220028277 [T/C] NM_001144889,NM_001144890,NM_144712 SLC23A3,SLC23A3,SLC23A3 EXON Missense_G425D,Missense_G433D,Missense_G308D exm1999708 2 220032985 [T/C] NM_001144889,NM_001144890,NM_144712 SLC23A3,SLC23A3,SLC23A3 EXON Missense_V244M,Missense_V252M,Missense_M233I exm267329 2 220034251 [G/C] NM_001144889,NM_001144890,NM_144712 SLC23A3,SLC23A3,SLC23A3 EXON Missense_M104I,Missense_M104I,Missense_M104I exm267346 2 220037444 [A/G] NM_015680 CNPPD1 EXON Missense_P366L exm267357 2 220037600 [A/G] NM_015680 CNPPD1 EXON Missense_A314V exm267358 2 220037608 [A/C] NM_015680 CNPPD1 EXON Missense_S311R exm267360 2 220037666 [A/G] NM_015680 CNPPD1 EXON Missense_L292P exm267366 2 220037756 [A/G] NM_015680 CNPPD1 EXON Missense_I262T exm267374 2 220038094 [A/G] NM_015680 CNPPD1 EXON Missense_S223F exm267390 2 220039772 [A/G] NM_015680 CNPPD1 EXON Missense_R107W exm267394 2 220040314 [A/G] NM_015680 CNPPD1 EXON Missense_R87W exm267400 2 220040963 [A/G] NM_015680 CNPPD1 EXON Missense_L54F exm267401 2 220040972 [C/G] NM_015680 CNPPD1 EXON Missense_L51V exm267455 2 220046488 [A/G] NM_024293 FAM134A EXON Missense_V336I exm267461 2 220046840 [A/G] NM_024293 FAM134A EXON Missense_R374H exm1999781 2 220046917 [T/C] NM_024293 FAM134A EXON Missense_R400W exm267468 2 220046948 [T/C] NM_024293 FAM134A EXON Missense_T410M exm267470 2 220046957 [A/G] NM_024293 FAM134A EXON Missense_N413S exm267472 2 220046975 [A/C] NM_024293 FAM134A EXON Missense_P419Q exm267476 2 220047026 [A/C] NM_024293 FAM134A EXON Missense_E436A exm267487 2 220047173 [A/T] NM_024293 FAM134A EXON Missense_E485V exm267493 2 220047295 [A/G] NM_024293 FAM134A EXON Missense_D526N exm267515 2 220072431 [A/C] NM_001270999,NM_001270998,NM_138802 ZFAND2B,ZFAND2B,ZFAND2B EXON Silent,Missense_P71H,Missense_P71H exm267525 2 220072753 [T/C] NM_001270999,NM_001270998,NM_138802 ZFAND2B,ZFAND2B,ZFAND2B EXON Missense_R99W,Missense_R143W,Missense_R143W exm267554 2 220073991 [A/G] NM_001270999,NM_001270998,NM_138802 ZFAND2B,ZFAND2B,ZFAND2B EXON Missense_S202N,Missense_S246N,Missense_S246N exm267555 2 220073993 [T/C] NM_001270999,NM_001270998,NM_138802 ZFAND2B,ZFAND2B,ZFAND2B EXON Missense_R203C,Missense_R247C,Missense_R247C exm1999833 2 220074953 [A/G] NM_005689 ABCB6 EXON Nonsense_R807X exm1999834 2 220074983 [T/C] NM_005689 ABCB6 EXON Missense_I797V exm267576 2 220075116 [T/C] NM_005689 ABCB6 EXON Missense_V780I exm267577 2 220075121 [A/G] NM_005689 ABCB6 EXON Missense_T778I exm267579 2 220075140 [A/C] NM_005689 ABCB6 EXON Missense_V772F exm267586 2 220075474 [A/G] NM_005689 ABCB6 EXON Missense_R739C exm267588 2 220075501 [T/C] NM_005689 ABCB6 EXON Missense_G730R exm267590 2 220075521 [T/C] NM_005689 ABCB6 EXON Missense_R723Q exm267596 2 220075746 [A/G] NM_005689 ABCB6 EXON Missense_R685C exm267599 2 220075758 [T/C] NM_005689 ABCB6 EXON Missense_A681T exm267603 2 220077134 [T/C] NM_005689 ABCB6 EXON Missense_R648Q exm2237124 2 220077985 [T/C] NM_005689 ABCB6 EXON Missense_V595M exm267616 2 220078006 [T/C] NM_005689 ABCB6 EXON Missense_G588S exm267622 2 220078186 [A/G] NM_005689 ABCB6 EXON Missense_F565S exm267627 2 220078564 [G/C] NM_005689 ABCB6 EXON Missense_T521S exm267633 2 220078595 [T/C] NM_005689 ABCB6 EXON Missense_A511T exm267638 2 220078652 [T/C] NM_005689 ABCB6 EXON Missense_A492T exm267642 2 220078872 [A/G] NM_005689 ABCB6 EXON Missense_R475C exm267649 2 220079112 [A/G] NM_005689 ABCB6 EXON Missense_T462M exm267653 2 220079136 [A/G] NM_005689 ABCB6 EXON Missense_V454A exm267663 2 220079686 [C/G] NM_005689 ABCB6 EXON Missense_L425V exm267668 2 220080761 [T/C] NM_005689 ABCB6 EXON Missense_R371Q exm267675 2 220080845 [T/C] NM_005689 ABCB6 EXON Missense_R343Q exm267676 2 220080879 [A/G] NM_005689 ABCB6 EXON Missense_F332L exm267687 2 220081415 [T/C] NM_005689 ABCB6 EXON Missense_R276Q exm267688 2 220081416 [A/G] NM_005689 ABCB6 EXON Missense_R276W exm267690 2 220081475 [T/C] NM_005689 ABCB6 EXON Missense_R256Q exm267692 2 220081503 [A/G] NM_005689 ABCB6 EXON Missense_R247C exm267694 2 220081525 [T/C] NM_005689 ABCB6 EXON Nonsense_W239X exm267701 2 220082504 [T/C] NM_005689 ABCB6 EXON Missense_R192Q exm267702 2 220082505 [A/G] NM_005689 ABCB6 EXON Missense_R192W exm267704 2 220082906 [T/C] NM_005689 ABCB6 EXON Missense_A164T exm267713 2 220083177 [T/G] NM_005689 ABCB6 EXON Nonsense_Y73X exm267731 2 220085847 [T/C] NM_024085,NM_001077198 ATG9A,ATG9A EXON Missense_T775A,Missense_T775A exm267751 2 220087033 [A/G] NM_024085,NM_001077198 ATG9A,ATG9A EXON Missense_A663V,Missense_A663V exm267765 2 220087441 [T/C] NM_024085,NM_001077198 ATG9A,ATG9A EXON Missense_S592G,Missense_S592G exm267768 2 220087527 [G/C] NM_024085,NM_001077198 ATG9A,ATG9A EXON Missense_T563S,Missense_T563S exm267770 2 220088369 [T/C] NM_024085,NM_001077198 ATG9A,ATG9A EXON Missense_V513I,Missense_V513I exm267784 2 220088677 [T/C] NM_024085,NM_001077198 ATG9A,ATG9A EXON Missense_I445V,Missense_I445V exm267787 2 220088694 [T/C] NM_024085,NM_001077198 ATG9A,ATG9A EXON Missense_R439H,Missense_R439H exm267798 2 220088972 [A/G] NM_024085,NM_001077198 ATG9A,ATG9A EXON Missense_T374I,Missense_T374I exm267819 2 220089402 [A/G] NM_024085,NM_001077198 ATG9A,ATG9A EXON Missense_R231C,Missense_R231C exm267825 2 220089803 [T/C] NM_024085,NM_001077198 ATG9A,ATG9A EXON Missense_R169H,Missense_R169H exm267833 2 220089899 [A/G] NM_024085,NM_001077198 ATG9A,ATG9A EXON Missense_V137A,Missense_V137A exm267835 2 220089908 [G/C] NM_024085,NM_001077198 ATG9A,ATG9A EXON Missense_T134S,Missense_T134S exm267855 2 220095058 [C/G] NM_018089,NM_001042410 ANKZF1,ANKZF1 EXON Missense_Q27E,Missense_Q27E exm267859 2 220096678 [A/C] NM_018089,NM_001042410 ANKZF1,ANKZF1 EXON Missense_R59S,Missense_R59S exm267862 2 220096757 [A/G] NM_018089,NM_001042410 ANKZF1,ANKZF1 EXON Missense_E86K,Missense_E86K exm267874 2 220097283 [T/C] NM_018089,NM_001042410 ANKZF1,ANKZF1 EXON Missense_R146W,Missense_R146W exm267875 2 220097284 [A/G] NM_018089,NM_001042410 ANKZF1,ANKZF1 EXON Missense_R146Q,Missense_R146Q exm267876 2 220097286 [A/G] NM_018089,NM_001042410 ANKZF1,ANKZF1 EXON Missense_E147K,Missense_E147K exm267888 2 220098090 [T/C] NM_018089,NM_001042410 ANKZF1,ANKZF1 EXON Nonsense_R252X,Nonsense_R252X exm267891 2 220098151 [A/G] NM_018089,NM_001042410 ANKZF1,ANKZF1 EXON Missense_Y272C,Missense_Y272C exm267893 2 220098506 [T/C] NM_018089,NM_001042410 ANKZF1,ANKZF1 EXON Missense_R297C,Missense_R297C exm267899 2 220098603 [A/G] NM_018089,NM_001042410 ANKZF1,ANKZF1 EXON Missense_R329H,Missense_R329H exm267901 2 220098859 [A/C] NM_018089,NM_001042410 ANKZF1,ANKZF1 EXON Missense_E351D,Missense_E351D exm267903 2 220098903 [A/G] NM_018089,NM_001042410 ANKZF1,ANKZF1 EXON Nonsense_W366X,Nonsense_W366X exm1999991 2 220099563 [A/G] NM_018089,NM_001042410 ANKZF1,ANKZF1 EXON Missense_G407E,Missense_G407E exm267915 2 220099713 [T/C] NM_018089,NM_001042410 ANKZF1,ANKZF1 EXON Missense_T457I,Missense_T457I exm267916 2 220099748 [A/C] NM_018089,NM_001042410 ANKZF1,ANKZF1 EXON Missense_T469P,Missense_T469P exm267917 2 220099758 [T/C] NM_018089,NM_001042410 ANKZF1,ANKZF1 EXON Missense_S472F,Missense_S472F exm267928 2 220100201 [C/G] NM_018089,NM_001042410 ANKZF1,ANKZF1 EXON Missense_S566C,Missense_S566C exm2273859 2 220100209 [T/C] NM_018089,NM_001042410 ANKZF1,ANKZF1 EXON Missense_R569W,Missense_R569W exm267930 2 220100212 [T/C] NM_018089,NM_001042410 ANKZF1,ANKZF1 EXON Missense_P570S,Missense_P570S exm267935 2 220100258 [A/G] NM_018089,NM_001042410 ANKZF1,ANKZF1 EXON Missense_R585Q,Missense_R585Q exm267936 2 220100267 [T/C] NM_018089,NM_001042410 ANKZF1,ANKZF1 EXON Missense_M588T,Missense_M588T exm267940 2 220100476 [A/G] NM_018089,NM_001042410 ANKZF1,ANKZF1 EXON Missense_R617Q,Missense_R617Q exm267950 2 220100787 [T/C] NM_018089,NM_001042410 ANKZF1,ANKZF1 EXON Missense_P676L,Missense_P676L exm267956 2 220101045 [T/C] NM_018089,NM_001042410 ANKZF1,ANKZF1 EXON Missense_R687C,Missense_R687C exm267972 2 220101858 [T/C] NM_024506 GLB1L EXON Missense_H634R exm267978 2 220101997 [T/C] NM_024506 GLB1L EXON Missense_V588M exm267980 2 220102017 [T/C] NM_024506 GLB1L EXON Missense_G581E exm267988 2 220102983 [T/C] NM_024506 GLB1L EXON Missense_M444V exm267998 2 220103266 [T/C] NM_024506 GLB1L EXON Missense_R393H exm267999 2 220103282 [A/C] NM_024506 GLB1L EXON Missense_D388Y exm268000 2 220103305 [A/G] NM_024506 GLB1L EXON Missense_V380A exm2000065 2 220103491 [A/G] NM_024506 GLB1L EXON Missense_V358A exm268011 2 220103915 [A/G] NM_024506 GLB1L EXON Missense_R321C exm268015 2 220104346 [T/C] NM_024506 GLB1L EXON Missense_R280Q exm268016 2 220104349 [G/C] NM_024506 GLB1L EXON Missense_T279R exm268023 2 220104523 [A/G] NM_024506 GLB1L EXON Missense_R252W exm268024 2 220104543 [A/G] NM_024506 GLB1L EXON Missense_T245I exm268028 2 220104643 [T/G] NM_024506 GLB1L EXON Synonymous_P240P exm268032 2 220104746 [T/C] NM_024506 GLB1L EXON Missense_R206H exm268036 2 220104948 [A/G] NM_024506 GLB1L EXON Missense_L171F exm268044 2 220107582 [A/G] NM_024506 GLB1L EXON Missense_R100W exm2000098 2 220107636 [T/C] NM_024506 GLB1L EXON Missense_V82M exm268052 2 220107928 [T/C] NM_024506 GLB1L EXON Missense_V61M exm268054 2 220107975 [A/G] NM_024506 GLB1L EXON Missense_P45L exm268058 2 220107997 [A/G] NM_024506 GLB1L EXON Missense_R38W exm268067 2 220111414 [A/G] NM_001008910,NR_026909 STK16,STK16 EXON Missense_H41R,Silent exm268070 2 220111455 [A/G] NM_001008910,NR_026909 STK16,STK16 EXON Missense_E55K,Silent exm268072 2 220111501 [A/G] NM_001008910,NR_026909 STK16,STK16 EXON Missense_R70H,Silent exm268102 2 220113159 [T/C] NM_001008910,NR_026909 STK16,STK16 EXON Missense_R266W,Silent exm268105 2 220113193 [T/C] NM_001008910,NR_026909 STK16,STK16 EXON Missense_P277L,Silent exm2237137 2 220115631 [G/C] NM_006000 TUBA4A EXON Missense_R264G exm268134 2 220115640 [A/G] NM_006000 TUBA4A EXON Missense_P261S exm268149 2 220116831 [A/G] NM_006000 TUBA4A EXON Missense_I42T exm268188 2 220146729 [A/G] NM_006736,NM_001039550 DNAJB2,DNAJB2 EXON Missense_E100K,Missense_E100K exm268198 2 220147650 [T/C] NM_006736,NM_001039550 DNAJB2,DNAJB2 EXON Synonymous_S148S,Synonymous_S148S exm268212 2 220149437 [C/G] NM_006736,NM_001039550 DNAJB2,DNAJB2 EXON Missense_Q235E,Missense_Q235E exm268218 2 220149542 [C/G] NM_006736,NM_001039550 DNAJB2,DNAJB2 EXON Missense_G270R,Missense_G270R exm2000200 2 220149663 [A/G] NM_006736,NM_001039550 DNAJB2,DNAJB2 EXON Missense_R310H,Silent exm268233 2 220155316 [T/C] NM_002846,NM_001199763,NM_001199764 PTPRN,PTPRN,PTPRN EXON Missense_I938V,Missense_I909V,Missense_I848V exm268243 2 220156220 [A/G] NM_002846,NM_001199763,NM_001199764 PTPRN,PTPRN,PTPRN EXON Missense_R901C,Missense_R872C,Missense_R811C exm268257 2 220161037 [T/C] NM_002846,NM_001199763,NM_001199764 PTPRN,PTPRN,PTPRN EXON Missense_V807I,Missense_V778I,Missense_V717I exm268261 2 220161204 [A/G] NM_002846,NM_001199763,NM_001199764 PTPRN,PTPRN,PTPRN EXON Missense_A782V,Missense_A753V,Missense_A692V exm268266 2 220161500 [A/G] NM_002846,NM_001199763,NM_001199764 PTPRN,PTPRN,PTPRN EXON Missense_R761W,Missense_R732W,Missense_R671W exm2000221 2 220161749 [T/C] NM_002846,NM_001199763,NM_001199764 PTPRN,PTPRN,PTPRN EXON Missense_E732K,Missense_E703K,Missense_E642K exm268293 2 220162145 [T/C] NM_002846,NM_001199763,NM_001199764 PTPRN,PTPRN,PTPRN EXON Missense_R633H,Missense_R604H,Missense_R543H exm268300 2 220162716 [A/G] NM_002846,NM_001199763,NM_001199764 PTPRN,PTPRN,PTPRN EXON Missense_A593V,Missense_A564V,Missense_A503V exm268302 2 220162770 [T/C] NM_002846,NM_001199763,NM_001199764 PTPRN,PTPRN,PTPRN EXON Missense_R575H,Missense_R546H,Missense_R485H exm2000241 2 220164764 [T/C] NM_002846,NM_001199763,NM_001199764 PTPRN,PTPRN,PTPRN EXON Missense_G460E,Missense_G460E,Missense_G370E exm268321 2 220164886 [A/C] NM_002846,NM_001199763,NM_001199764 PTPRN,PTPRN,PTPRN EXON Missense_S419R,Missense_S419R,Missense_S329R exm268322 2 220164912 [A/G] NM_002846,NM_001199763,NM_001199764 PTPRN,PTPRN,PTPRN EXON Missense_H411Y,Missense_H411Y,Missense_H321Y exm268324 2 220164968 [A/G] NM_002846,NM_001199763,NM_001199764 PTPRN,PTPRN,PTPRN EXON Missense_P392L,Missense_P392L,Missense_P302L exm268325 2 220166368 [A/C] NM_002846,NM_001199763,NM_001199764 PTPRN,PTPRN,PTPRN EXON Missense_Q356H,Missense_Q356H,Missense_Q266H exm268328 2 220166408 [A/G] NM_002846,NM_001199763,NM_001199764 PTPRN,PTPRN,PTPRN EXON Missense_A343V,Missense_A343V,Missense_A253V exm268334 2 220166873 [A/G] NM_002846,NM_001199763,NM_001199764 PTPRN,PTPRN,PTPRN EXON Missense_P327L,Missense_P327L,Missense_P237L exm2237140 2 220167401 [T/G] NM_002846,NM_001199763,NM_001199764 PTPRN,PTPRN,PTPRN EXON Missense_E179A,Missense_E179A,Missense_E89A exm2273860 2 220167446 [T/C] NM_002846,NM_001199763,NM_001199764 PTPRN,PTPRN,PTPRN EXON Missense_K164R,Missense_K164R,Missense_K74R exm268355 2 220167542 [T/C] NM_002846,NM_001199763,NM_001199764 PTPRN,PTPRN,PTPRN EXON Missense_K132R,Missense_K132R,Missense_K42R exm268364 2 220172183 [T/C] NM_002846,NM_001199763,NM_001199764 PTPRN,PTPRN,PTPRN EXON Missense_R88Q,Missense_R88Q,Silent exm268386 2 220193917 [T/C] NM_001007089 RESP18 EXON Missense_A175T exm2276906 2 220193932 [A/C] NM_001007089 RESP18 EXON Nonsense_E170X exm268388 2 220194358 [A/C] NM_001007089 RESP18 Silent exm268391 2 220194459 [T/C] NM_001007089 RESP18 EXON Missense_Q122R exm268393 2 220194470 [A/C] NM_001007089 RESP18 EXON Missense_D118E exm268395 2 220195517 [A/C] NM_001007089 RESP18 EXON Missense_V105L exm268403 2 220197321 [T/C] NM_001007089 RESP18 EXON Missense_E53K exm268405 2 220197353 [T/C] NM_001007089 RESP18 EXON Missense_R42K exm268406 2 220197388 [A/C] NM_001007089 RESP18 EXON Missense_E30D exm2237142 2 220239672 [A/G] NM_012100 DNPEP EXON Missense_R438W exm2000281 2 220239707 [A/G] NM_012100 DNPEP EXON Missense_T426I exm268420 2 220239719 [C/G] NM_012100 DNPEP EXON Missense_P422R exm2000288 2 220246806 [T/C] NM_012100 DNPEP EXON Missense_R331Q exm2275633 2 220247917 [A/G] NM_012100 DNPEP EXON Missense_A291V exm268450 2 220247918 [T/C] NM_012100 DNPEP EXON Missense_A291T exm268457 2 220250147 [A/G] NM_012100 DNPEP EXON Missense_V258A exm268461 2 220250232 [C/G] NM_012100 DNPEP EXON Missense_L230V exm268462 2 220250237 [A/G] NM_012100 DNPEP EXON Missense_S228L exm268463 2 220250246 [T/C] NM_012100 DNPEP EXON Missense_R225Q exm268473 2 220250769 [T/C] NM_012100 DNPEP EXON Missense_I171V exm268488 2 220251126 [T/C] NM_012100 DNPEP EXON Missense_R114H exm268494 2 220251685 [T/G] NM_012100 DNPEP EXON Missense_N50H exm268508 2 220283434 [A/G] NM_001927 DES EXON Missense_G84S exm268523 2 220284873 [A/G] NM_001927 DES EXON Missense_R212Q exm268524 2 220284876 [T/C] NM_001927 DES EXON Missense_A213V exm268533 2 220285266 [T/A] NM_001927 DES EXON Missense_E262V exm268541 2 220285586 [A/G] NM_001927 DES EXON Missense_D312N exm268542 2 220285587 [A/C] NM_001927 DES EXON Missense_D312A exm268564 2 220288540 [A/G] NM_001927 DES EXON Missense_R429Q exm268572 2 220290674 [A/G] NM_001927 DES EXON Missense_V459I exm268601 2 220309664 [T/C] NM_005876 SPEG EXON Missense_A199V exm268641 2 220313633 [A/G] NM_005876 SPEG EXON Missense_G585S exm268663 2 220316470 [T/C] NM_005876 SPEG EXON Missense_A794V exm268691 2 220331911 [A/G] NM_005876 SPEG EXON Missense_R966Q exm268706 2 220333321 [A/G] NM_005876 SPEG EXON Missense_R1055Q exm268708 2 220333344 [A/G] NM_005876 SPEG EXON Missense_A1063T exm268711 2 220333359 [T/C] NM_005876 SPEG EXON Missense_R1068W exm268720 2 220333587 [T/C] NM_005876 SPEG EXON Missense_P1103L exm268741 2 220334086 [T/C] NM_005876 SPEG EXON Missense_R1234W exm268752 2 220337041 [A/G] NM_005876 SPEG EXON Missense_D1310N exm268757 2 220337640 [T/G] NM_005876 SPEG EXON Missense_Q1323H exm268760 2 220337669 [T/C] NM_005876 SPEG EXON Missense_T1333M exm268762 2 220337690 [A/G] NM_005876 SPEG EXON Missense_R1340Q exm268764 2 220337719 [T/C] NM_005876 SPEG EXON Missense_R1350C exm268772 2 220338476 [A/G] NM_005876 SPEG EXON Missense_R1433Q exm268774 2 220338578 [A/G] NM_005876 SPEG EXON Missense_R1467Q exm268776 2 220338597 [C/G] NM_005876 SPEG EXON Missense_Q1473H exm268787 2 220342126 [T/C] NM_005876 SPEG EXON Missense_A1563V exm268788 2 220342162 [T/A] NM_005876 SPEG EXON Missense_H1575L exm268790 2 220342440 [A/G] NM_005876 SPEG EXON Missense_G1587R exm268791 2 220342509 [T/G] NM_005876 SPEG Silent exm268794 2 220342661 [T/C] NM_005876 SPEG EXON Missense_R1621C exm2277215 2 220342799 [T/C] NM_005876 SPEG EXON Missense_R1667C exm268813 2 220344715 [T/C] NM_005876 SPEG EXON Missense_A1732V exm2000415 2 220347820 [T/C] NM_005876 SPEG EXON Missense_R1879C exm268868 2 220348751 [T/C] NM_005876 SPEG EXON Missense_P2189L exm268870 2 220348816 [A/G] NM_005876 SPEG EXON Missense_A2211T exm2000421 2 220348859 [T/C] NM_005876 SPEG EXON Missense_A2225V exm268872 2 220348877 [A/C] NM_005876 SPEG EXON Missense_P2231H exm2000422 2 220348880 [A/C] NM_005876 SPEG EXON Missense_P2232H exm268876 2 220348967 [T/C] NM_005876 SPEG EXON Missense_P2261L exm268881 2 220349039 [T/C] NM_005876 SPEG EXON Missense_P2285L exm268884 2 220349156 [A/T] NM_005876 SPEG EXON Missense_I2324N exm268911 2 220352984 [T/C] NM_005876 SPEG EXON Missense_L2604F exm268915 2 220353017 [A/G] NM_005876 SPEG EXON Missense_I2615V exm268926 2 220353532 [A/C] NM_005876 SPEG EXON Missense_P2687T exm268932 2 220353814 [A/G] NM_005876 SPEG EXON Missense_D2730N exm268938 2 220353940 [G/C] NM_005876 SPEG EXON Missense_Q2772E exm2000444 2 220354061 [A/C] NM_005876 SPEG EXON Missense_S2774Y exm268940 2 220354108 [A/G] NM_005876 SPEG EXON Missense_R2790G exm268943 2 220354150 [A/G] NM_005876 SPEG EXON Missense_A2804T exm268954 2 220354391 [T/C] NM_005876 SPEG EXON Missense_P2884L exm268957 2 220354435 [T/C] NM_005876 SPEG EXON Missense_P2899S exm2277216 2 220355135 [T/C] NM_005876 SPEG EXON Missense_R2976C exm268964 2 220355135 [A/C] NM_005876 SPEG EXON Missense_R2976S exm268967 2 220355181 [T/C] NM_005876 SPEG EXON Missense_T2991M exm268981 2 220355330 [A/T] NM_005876 SPEG EXON Missense_S3041C exm268983 2 220355525 [A/G] NM_005876 SPEG EXON Missense_G3078S exm268984 2 220355529 [A/G] NM_005876 SPEG EXON Missense_H3079R exm268990 2 220355658 [T/C] NM_005876 SPEG EXON Missense_T3122M exm268997 2 220356877 [T/C] NM_005876 SPEG EXON Missense_T3169M exm268999 2 220356883 [A/C] NM_005876 SPEG EXON Missense_A3171D exm2000467 2 220356886 [A/G] NM_005876 SPEG EXON Missense_R3172Q exm269000 2 220356901 [A/G] NM_005876 SPEG EXON Missense_R3177H exm269009 2 220357447 [A/G] NM_005876 SPEG EXON Missense_R3248H exm269012 2 220357468 [A/G] NM_005876 SPEG EXON Missense_R3255H exm269035 2 220366249 [T/C] NM_013335,NM_205847 GMPPA,GMPPA EXON Missense_P64S,Missense_P64S exm269037 2 220366273 [A/G] NM_013335,NM_205847 GMPPA,GMPPA EXON Missense_A72T,Missense_A72T exm2255001 2 220366696 [G/C] NM_013335,NM_205847 GMPPA,GMPPA EXON Synonymous_P122P,Synonymous_P122P exm269049 2 220367160 [C/G] NM_013335,NM_205847 GMPPA,GMPPA EXON Missense_H162Q,Missense_H162Q exm269101 2 220371087 [A/G] NM_013335,NM_205847 GMPPA,GMPPA EXON Missense_M369V,Missense_M369V exm269110 2 220379117 [T/C] NM_182847 ASIC4 EXON Missense_P18S exm269114 2 220379175 [T/C] NM_182847 ASIC4 EXON Missense_A37V exm269129 2 220379511 [A/G] NM_182847 ASIC4 EXON Missense_E149G exm269139 2 220379643 [A/G] NM_182847 ASIC4 EXON Missense_R193H exm269157 2 220396543 [T/C] NM_182847 ASIC4 EXON Missense_R343W exm269167 2 220396777 [T/C] NM_182847 ASIC4 EXON Missense_P388L exm269168 2 220396785 [A/G] NM_182847 ASIC4 EXON Missense_I391V exm2255004 2 220397072 [T/C] NM_182847 ASIC4 EXON Synonymous_R424R exm269172 2 220397073 [A/G] NM_182847 ASIC4 EXON Missense_A425T exm269181 2 220399904 [A/G] NM_182847 ASIC4 EXON Missense_G471R exm269192 2 220401788 [A/G] NM_182847 ASIC4 EXON Synonymous_R518R exm269193 2 220401837 [A/G] NM_182847 ASIC4 EXON Missense_A535T exm269199 2 220402387 [T/C] NM_182847 ASIC4 EXON Missense_R587C exm269200 2 220402405 [T/C] NM_182847 ASIC4 EXON Missense_R593W exm269207 2 220402680 [T/C] NM_182847 ASIC4 EXON Missense_V619A exm269209 2 220402688 [A/G] NM_182847 ASIC4 EXON Missense_G622R exm2000535 2 220402713 [A/G] NM_182847 ASIC4 EXON Missense_N630S exm269211 2 220402733 [A/C] NM_182847 ASIC4 EXON Missense_P637T exm269216 2 220404157 [T/C] NM_001195731,NM_024536 CHPF,CHPF EXON Missense_R597Q,Missense_R759Q exm269217 2 220404179 [T/C] NM_001195731,NM_024536 CHPF,CHPF EXON Missense_V590M,Missense_V752M exm2000540 2 220404193 [T/C] NM_001195731,NM_024536 CHPF,CHPF EXON Missense_R585H,Missense_R747H exm269224 2 220404244 [T/C] NM_001195731,NM_024536 CHPF,CHPF EXON Missense_R568H,Missense_R730H exm269228 2 220404299 [A/G] NM_001195731,NM_024536 CHPF,CHPF EXON Missense_L550F,Missense_L712F exm269233 2 220404341 [T/C] NM_001195731,NM_024536 CHPF,CHPF EXON Missense_E536K,Missense_E698K exm269243 2 220404484 [C/G] NM_001195731,NM_024536 CHPF,CHPF EXON Missense_A488G,Missense_A650G exm269257 2 220404739 [T/G] NM_001195731,NM_024536 CHPF,CHPF EXON Missense_P403H,Missense_P565H exm269268 2 220404877 [T/C] NM_001195731,NM_024536 CHPF,CHPF EXON Missense_R357H,Missense_R519H exm269269 2 220404878 [A/G] NM_001195731,NM_024536 CHPF,CHPF EXON Missense_R357C,Missense_R519C exm269276 2 220404974 [C/G] NM_001195731,NM_024536 CHPF,CHPF EXON Missense_L325V,Missense_L487V exm269277 2 220404986 [A/G] NM_001195731,NM_024536 CHPF,CHPF EXON Missense_R321C,Missense_R483C exm269278 2 220404997 [T/C] NM_001195731,NM_024536 CHPF,CHPF EXON Missense_R317Q,Missense_R479Q exm269279 2 220405001 [A/G] NM_001195731,NM_024536 CHPF,CHPF EXON Missense_R316C,Missense_R478C exm269284 2 220405109 [A/G] NM_001195731,NM_024536 CHPF,CHPF EXON Missense_R280W,Missense_R442W exm269285 2 220405126 [T/C] NM_001195731,NM_024536 CHPF,CHPF EXON Missense_R274H,Missense_R436H exm269291 2 220405177 [T/C] NM_001195731,NM_024536 CHPF,CHPF EXON Missense_R257Q,Missense_R419Q exm269294 2 220405214 [T/C] NM_001195731,NM_024536 CHPF,CHPF EXON Missense_D245N,Missense_D407N exm269297 2 220405229 [T/C] NM_001195731,NM_024536 CHPF,CHPF EXON Missense_A240T,Missense_A402T exm269303 2 220405322 [A/G] NM_001195731,NM_024536 CHPF,CHPF EXON Nonsense_Q209X,Nonsense_Q371X exm269307 2 220405678 [T/C] NM_001195731,NM_024536 CHPF,CHPF EXON Missense_Q191R,Missense_Q353R exm2237159 2 220409614 [T/C] NM_001005209 TMEM198 EXON Synonymous_F55F exm269351 2 220412282 [T/G] NM_001005209 TMEM198 EXON Missense_V74G exm269356 2 220412402 [A/G] NM_001005209 TMEM198 EXON Missense_R114H exm2000570 2 220412696 [A/C] NM_001005209 TMEM198 EXON Missense_P212Q exm269382 2 220413892 [A/G] NM_001005209 TMEM198 EXON Missense_R254H exm269385 2 220413912 [T/C] NM_001005209 TMEM198 EXON Missense_R261W exm269386 2 220413919 [A/G] NM_001005209 TMEM198 EXON Missense_R263Q exm269389 2 220413934 [A/G] NM_001005209 TMEM198 EXON Missense_R268H exm269391 2 220413981 [A/G] NM_001005209 TMEM198 EXON Missense_G284S exm269433 2 220417266 [T/C] NM_015311 OBSL1 EXON Missense_R1767Q exm269439 2 220417356 [T/G] NM_015311 OBSL1 EXON Missense_T1737K exm269440 2 220417364 [T/G] NM_015311 OBSL1 EXON Missense_D1734E exm269450 2 220418334 [A/C] NM_015311 OBSL1 EXON Nonsense_E1651X exm269462 2 220419289 [C/G] NM_015311 OBSL1 EXON Missense_R1595G exm269465 2 220419327 [T/C] NM_015311 OBSL1 EXON Missense_G1582E exm269466 2 220419339 [T/C] NM_015311 OBSL1 EXON Missense_Q1578R exm269467 2 220419340 [A/G] NM_015311 OBSL1 EXON Nonsense_Q1578X exm269482 2 220420874 [T/C] NM_015311,NM_001173431 OBSL1,OBSL1 EXON Missense_D1493N,Missense_D1493N exm269487 2 220420922 [T/C] NM_015311,NM_001173431 OBSL1,OBSL1 EXON Missense_A1477T,Missense_A1477T exm269494 2 220420990 [T/C] NM_015311,NM_001173431 OBSL1,OBSL1 EXON Missense_R1454Q,Missense_R1454Q exm269504 2 220421310 [A/G] NM_015311,NM_001173431 OBSL1,OBSL1 EXON Missense_P1401L,Missense_P1401L exm269506 2 220421347 [T/C] NM_015311,NM_001173431 OBSL1,OBSL1 EXON Missense_D1389N,Missense_D1389N exm269508 2 220421373 [T/C] NM_015311,NM_001173431 OBSL1,OBSL1 EXON Missense_R1380Q,Missense_R1380Q exm269509 2 220421379 [A/G] NM_015311,NM_001173431 OBSL1,OBSL1 EXON Missense_T1378M,Missense_T1378M exm269513 2 220421417 [G/C] NM_015311,NM_001173431 OBSL1,OBSL1 EXON Missense_E1365D,Missense_E1365D exm269515 2 220421443 [A/G] NM_015311,NM_001173431 OBSL1,OBSL1 EXON Missense_P1357S,Missense_P1357S exm269516 2 220422071 [T/C] NM_015311,NM_001173431 OBSL1,OBSL1 EXON Missense_V1354M,Missense_V1354M exm269517 2 220422072 [A/G] NM_015311,NM_001173431 OBSL1,OBSL1 EXON Synonymous_S1353S,Synonymous_S1353S exm269529 2 220422292 [T/C] NM_015311,NM_001173431 OBSL1,OBSL1 EXON Missense_R1280Q,Missense_R1280Q exm269533 2 220422583 [A/G] NM_015311,NM_001173431 OBSL1,OBSL1 EXON Missense_P1251L,Missense_P1251L exm269537 2 220422686 [T/C] NM_015311,NM_001173431 OBSL1,OBSL1 EXON Missense_E1217K,Missense_E1217K exm269541 2 220422740 [A/G] NM_015311,NM_001173431 OBSL1,OBSL1 EXON Missense_R1199W,Missense_R1199W exm2277217 2 220422954 [T/C] NM_015311,NM_001173431 OBSL1,OBSL1 EXON Missense_V1152M,Missense_V1152M exm269560 2 220423085 [C/G] NM_015311,NM_001173431 OBSL1,OBSL1 EXON Missense_A1108G,Missense_A1108G exm269563 2 220423125 [T/C] NM_015311,NM_001173431 OBSL1,OBSL1 EXON Missense_A1095T,Missense_A1095T exm269564 2 220423149 [A/G] NM_015311,NM_001173431 OBSL1,OBSL1 EXON Missense_R1087C,Missense_R1087C exm269573 2 220424045 [T/C] NM_015311,NM_001173431 OBSL1,OBSL1 EXON Missense_R1043H,Missense_R1043H exm269574 2 220424046 [A/G] NM_015311,NM_001173431 OBSL1,OBSL1 EXON Missense_R1043C,Missense_R1043C exm269578 2 220424091 [C/G] NM_015311,NM_001173431 OBSL1,OBSL1 EXON Missense_E1028Q,Missense_E1028Q exm269581 2 220424129 [T/C] NM_015311,NM_001173431 OBSL1,OBSL1 EXON Missense_R1015Q,Missense_R1015Q exm269586 2 220424192 [T/C] NM_015311,NM_001173431 OBSL1,OBSL1 EXON Missense_R994H,Missense_R994H exm269596 2 220427190 [T/C] NM_015311,NM_001173431,NM_001173408 OBSL1,OBSL1,OBSL1 EXON Missense_E963K,Missense_E963K,Missense_E963K exm269603 2 220427306 [T/C] NM_015311,NM_001173431,NM_001173408 OBSL1,OBSL1,OBSL1 EXON Missense_R924Q,Missense_R924Q,Missense_R924Q exm269608 2 220427395 [A/G] NM_015311,NM_001173431,NM_001173408 OBSL1,OBSL1,OBSL1 EXON Synonymous_D894D,Synonymous_D894D,Synonymous_D894D exm269626 2 220429979 [T/C] NM_015311,NM_001173431,NM_001173408 OBSL1,OBSL1,OBSL1 EXON Missense_G798S,Missense_G798S,Missense_G798S exm269639 2 220430179 [C/G] NM_015311,NM_001173431,NM_001173408 OBSL1,OBSL1,OBSL1 EXON Nonsense_S731X,Nonsense_S731X,Nonsense_S731X exm269649 2 220431582 [T/C] NM_015311,NM_001173431,NM_001173408 OBSL1,OBSL1,OBSL1 EXON Missense_V702M,Missense_V702M,Missense_V702M exm2000620 2 220431674 [T/C] NM_015311,NM_001173431,NM_001173408 OBSL1,OBSL1,OBSL1 EXON Missense_R671H,Missense_R671H,Missense_R671H exm269654 2 220431687 [T/C] NM_015311,NM_001173431,NM_001173408 OBSL1,OBSL1,OBSL1 EXON Missense_A667T,Missense_A667T,Missense_A667T exm269660 2 220431774 [T/C] NM_015311,NM_001173431,NM_001173408 OBSL1,OBSL1,OBSL1 EXON Missense_D638N,Missense_D638N,Missense_D638N exm269662 2 220431801 [T/C] NM_015311,NM_001173431,NM_001173408 OBSL1,OBSL1,OBSL1 EXON Missense_D629N,Missense_D629N,Missense_D629N exm269674 2 220432094 [T/C] NM_015311,NM_001173431,NM_001173408 OBSL1,OBSL1,OBSL1 EXON Missense_D580N,Missense_D580N,Missense_D580N exm269683 2 220432168 [T/C] NM_015311,NM_001173431,NM_001173408 OBSL1,OBSL1,OBSL1 EXON Missense_R555Q,Missense_R555Q,Missense_R555Q exm269684 2 220432169 [A/G] NM_015311,NM_001173431,NM_001173408 OBSL1,OBSL1,OBSL1 EXON Missense_R555W,Missense_R555W,Missense_R555W exm269696 2 220432656 [T/C] NM_015311,NM_001173431,NM_001173408 OBSL1,OBSL1,OBSL1 EXON Missense_V440I,Missense_V440I,Missense_V440I exm269709 2 220432908 [T/C] NM_015311,NM_001173431,NM_001173408 OBSL1,OBSL1,OBSL1 EXON Missense_R384H,Missense_R384H,Missense_R384H exm269714 2 220432951 [G/C] NM_015311,NM_001173431,NM_001173408 OBSL1,OBSL1,OBSL1 EXON Missense_P370A,Missense_P370A,Missense_P370A exm269715 2 220432957 [A/G] NM_015311,NM_001173431,NM_001173408 OBSL1,OBSL1,OBSL1 EXON Missense_R368C,Missense_R368C,Missense_R368C exm269734 2 220435204 [A/C] NM_015311,NM_001173431,NM_001173408 OBSL1,OBSL1,OBSL1 EXON Missense_A251S,Missense_A251S,Missense_A251S exm2000650 2 220437172 [T/C] NM_002191 INHA EXON Missense_R26W exm269773 2 220439517 [T/C] NM_002191 INHA EXON Missense_R124C exm269780 2 220439634 [A/G] NM_002191 INHA EXON Missense_V163M exm269786 2 220439724 [A/G] NM_002191 INHA EXON Missense_V193I exm269793 2 220439822 [T/G] NM_002191 INHA EXON Missense_S225R exm269794 2 220439826 [A/G] NM_002191 INHA EXON Missense_G227R exm269795 2 220439841 [T/C] NM_002191 INHA EXON Missense_R232C exm269796 2 220439853 [G/C] NM_002191 INHA EXON Missense_L236V exm269798 2 220439881 [T/C] NM_002191 INHA EXON Missense_A245V exm269801 2 220439916 [A/G] NM_002191 INHA EXON Missense_A257T exm269819 2 220462640 [T/G] NM_052902 STK11IP EXON Missense_R1M exm269830 2 220466152 [T/C] NM_052902 STK11IP EXON Missense_L97P exm2269373 2 220466199 [T/G] NM_052902 STK11IP Silent exm269843 2 220466716 [A/G] NM_052902 STK11IP EXON Missense_G128S exm269846 2 220466763 [T/G] NM_052902 STK11IP EXON Missense_Q143H exm269853 2 220467445 [T/C] NM_052902 STK11IP EXON Missense_R200C exm269856 2 220470369 [T/C] NM_052902 STK11IP EXON Missense_R231C exm269861 2 220470710 [A/G] NM_052902 STK11IP EXON Missense_D271N exm269870 2 220471441 [T/C] NM_052902 STK11IP EXON Missense_T343I exm269877 2 220471793 [T/C] NM_052902 STK11IP EXON Missense_R396W exm269885 2 220472813 [T/G] NM_052902 STK11IP EXON Missense_F433V exm2000713 2 220472831 [T/C] NM_052902 STK11IP EXON Missense_R439C exm269892 2 220473029 [T/C] NM_052902 STK11IP EXON Missense_P505S exm269895 2 220473139 [G/C] NM_052902 STK11IP EXON Missense_Q541H exm269898 2 220473328 [A/G] NM_052902 STK11IP EXON Missense_V554M exm269902 2 220473355 [A/G] NM_052902 STK11IP EXON Missense_V563I exm269906 2 220473424 [T/C] NM_052902 STK11IP EXON Missense_R586C exm269910 2 220473882 [T/C] NM_052902 STK11IP EXON Missense_R636W exm269918 2 220474124 [T/C] NM_052902 STK11IP EXON Missense_R667W exm269920 2 220474173 [A/G] NM_052902 STK11IP EXON Missense_C683Y exm269927 2 220476407 [A/G] NM_052902 STK11IP EXON Missense_R740Q exm269928 2 220476443 [T/C] NM_052902 STK11IP EXON Missense_S752F exm269929 2 220476533 [A/G] NM_052902 STK11IP EXON Missense_H782R exm269930 2 220476556 [T/C] NM_052902 STK11IP EXON Missense_P790S exm269936 2 220476747 [A/C] NM_052902 STK11IP EXON Missense_S813R exm269958 2 220479233 [A/G] NM_052902 STK11IP EXON Missense_R956H exm269960 2 220479251 [A/G] NM_052902 STK11IP EXON Missense_R962Q exm269971 2 220479894 [A/C] NM_052902 STK11IP EXON Missense_P994Q exm269972 2 220479951 [T/C] NM_052902 STK11IP EXON Missense_S1013L exm269979 2 220480029 [T/C] NM_052902 STK11IP EXON Missense_A1039V exm269982 2 220480043 [T/C] NM_052902 STK11IP EXON Missense_R1044W exm269991 2 220480910 [T/C] NM_052902 STK11IP EXON Nonsense_R1099X exm270003 2 220493280 [T/C] NR_048551,NM_005070,NM_201574 SLC4A3,SLC4A3,SLC4A3 EXON Silent,Missense_R69W,Missense_R69W exm270009 2 220493938 [A/G] NR_048551,NM_005070,NM_201574 SLC4A3,SLC4A3,SLC4A3 EXON Silent,Missense_R97Q,Missense_R97Q exm2273861 2 220493958 [T/C] NR_048551,NM_005070,NM_201574 SLC4A3,SLC4A3,SLC4A3 EXON Silent,Missense_R104W,Missense_R104W exm270011 2 220493959 [A/G] NR_048551,NM_005070,NM_201574 SLC4A3,SLC4A3,SLC4A3 EXON Silent,Missense_R104Q,Missense_R104Q exm270024 2 220494118 [A/C] NR_048551,NM_005070,NM_201574 SLC4A3,SLC4A3,SLC4A3 EXON Silent,Missense_H157P,Missense_H157P exm270030 2 220494849 [T/C] NR_048551,NM_005070,NM_201574 SLC4A3,SLC4A3,SLC4A3 EXON Silent,Silent,Missense_P223S exm270031 2 220494859 [T/C] NR_048551,NM_005070,NM_201574 SLC4A3,SLC4A3,SLC4A3 EXON Silent,Silent,Missense_L226P exm270039 2 220494940 [T/C] NR_048551,NM_005070,NM_201574 SLC4A3,SLC4A3,SLC4A3 EXON Silent,Missense_S226L,Missense_S253L exm270051 2 220496794 [T/C] NR_048551,NM_005070,NM_201574 SLC4A3,SLC4A3,SLC4A3 EXON Silent,Missense_R306C,Missense_R333C exm270053 2 220496824 [T/C] NR_048551,NM_005070,NM_201574 SLC4A3,SLC4A3,SLC4A3 EXON Silent,Missense_R316W,Missense_R343W exm2273863 2 220497018 [A/G] NR_048551,NM_005070,NM_201574 SLC4A3,SLC4A3,SLC4A3 EXON Silent,Missense_R332H,Missense_R359H exm270068 2 220497649 [A/G] NR_048551,NM_005070,NM_201574 SLC4A3,SLC4A3,SLC4A3 EXON Silent,Missense_V399M,Missense_V426M exm270075 2 220497709 [T/C] NR_048551,NM_005070,NM_201574 SLC4A3,SLC4A3,SLC4A3 EXON Silent,Missense_R419C,Missense_R446C exm270093 2 220499190 [A/G] NR_048551,NM_005070,NM_201574 SLC4A3,SLC4A3,SLC4A3 EXON Silent,Missense_N537S,Missense_N564S exm270104 2 220500030 [A/C] NR_048551,NM_005070,NM_201574 SLC4A3,SLC4A3,SLC4A3 EXON Silent,Missense_Q595P,Missense_Q622P exm270105 2 220500053 [A/G] NR_048551,NM_005070,NM_201574 SLC4A3,SLC4A3,SLC4A3 EXON Silent,Missense_E603K,Missense_E630K exm270110 2 220500152 [T/C] NR_048551,NM_005070,NM_201574 SLC4A3,SLC4A3,SLC4A3 EXON Silent,Missense_R636W,Missense_R663W exm270113 2 220500169 [C/G] NR_048551,NM_005070,NM_201574 SLC4A3,SLC4A3,SLC4A3 EXON Silent,Missense_Q641H,Missense_Q668H exm270119 2 220500412 [A/G] NR_048551,NM_005070,NM_201574 SLC4A3,SLC4A3,SLC4A3 EXON Silent,Missense_G664R,Missense_G691R exm270161 2 220502516 [T/C] NR_048551,NM_005070,NM_201574 SLC4A3,SLC4A3,SLC4A3 EXON Silent,Missense_R917C,Missense_R944C exm270170 2 220503516 [T/C] NR_048551,NM_005070,NM_201574 SLC4A3,SLC4A3,SLC4A3 EXON Silent,Missense_P983L,Missense_P1010L exm270207 2 220505656 [A/G] NR_048551,NM_005070,NM_201574 SLC4A3,SLC4A3,SLC4A3 EXON Silent,Missense_R1198Q,Missense_R1225Q exm2255007 2 220643119 [T/C] exm2265274 2 221019458 [A/G] exm2261180 2 221238189 [T/C] exm2255014 2 221544964 [A/G] exm-rs10932886 2 221720088 [A/G] exm-rs10498091 2 221899444 [T/C] exm2261182 2 221925929 [T/C] exm2255019 2 222183997 [T/C] exm270215 2 222290753 [T/C] NM_004438 EPHA4 EXON Missense_V986I exm270219 2 222290788 [A/G] NM_004438 EPHA4 EXON Missense_T974I exm270221 2 222290792 [A/G] NM_004438 EPHA4 EXON Nonsense_R973X exm2001506 2 222291194 [T/C] NM_004438 EPHA4 EXON Missense_V946M exm270283 2 222347254 [A/G] NM_004438 EPHA4 EXON Missense_P379L exm270290 2 222365763 [T/C] NM_004438 EPHA4 EXON Missense_N318S exm270294 2 222365859 [A/G] NM_004438 EPHA4 EXON Missense_T286M exm270320 2 222433475 [C/G] NM_004438 EPHA4 EXON Missense_G41A exm2265276 2 222438968 [A/G] exm-rs825287 2 222524920 [T/C] exm2265389 2 222618435 [A/G] exm-rs824931 2 222801699 [T/C] exm-rs6710838 2 223044442 [A/G] exm270351 2 223084881 [A/G] NM_001127366,NM_181458,NM_181459,NM_181461,NM_181460,NM_181457 PAX3,PAX3,PAX3,PAX3,PAX3,PAX3 EXON Missense_I383T,Missense_I384T,Missense_I384T,Missense_I384T,Missense_I384T,Missense_I384T exm270360 2 223085050 [T/C] NM_001127366,NM_181458,NM_181459,NM_181461,NM_181460,NM_181457 PAX3,PAX3,PAX3,PAX3,PAX3,PAX3 EXON Missense_V327I,Missense_V328I,Missense_V328I,Missense_V328I,Missense_V328I,Missense_V328I exm2237172 2 223085055 [G/C] NM_001127366,NM_181458,NM_181459,NM_181461,NM_181460,NM_181457 PAX3,PAX3,PAX3,PAX3,PAX3,PAX3 EXON Missense_S325T,Missense_S326T,Missense_S326T,Missense_S326T,Missense_S326T,Missense_S326T exm270363 2 223085955 [T/G] NM_001127366,NM_181458,NM_181459,NM_181461,NM_181460,NM_181457 PAX3,PAX3,PAX3,PAX3,PAX3,PAX3 EXON Missense_T314K,Missense_T315K,Missense_T315K,Missense_T315K,Missense_T315K,Missense_T315K exm270380 2 223158452 [A/G] NM_001127366,NM_181458,NM_181459,NM_181461,NM_181460,NM_181457,NM_013942,NM_000438 PAX3,PAX3,PAX3,PAX3,PAX3,PAX3,PAX3,PAX3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_S204F,Silent exm270385 2 223158829 [T/C] NM_001127366,NM_181458,NM_181459,NM_181461,NM_181460,NM_181457,NM_013942,NM_000438 PAX3,PAX3,PAX3,PAX3,PAX3,PAX3,PAX3,PAX3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_S215G exm270387 2 223158892 [T/C] NM_001127366,NM_181458,NM_181459,NM_181461,NM_181460,NM_181457,NM_013942,NM_000438 PAX3,PAX3,PAX3,PAX3,PAX3,PAX3,PAX3,PAX3 EXON Missense_E193K,Missense_E194K,Missense_E194K,Missense_E194K,Missense_E194K,Missense_E194K,Missense_E194K,Missense_E194K exm270392 2 223158947 [G/C] NM_001127366,NM_181458,NM_181459,NM_181461,NM_181460,NM_181457,NM_013942,NM_000438 PAX3,PAX3,PAX3,PAX3,PAX3,PAX3,PAX3,PAX3 EXON Missense_K174N,Missense_K175N,Missense_K175N,Missense_K175N,Missense_K175N,Missense_K175N,Missense_K175N,Missense_K175N exm270398 2 223160268 [A/C] NM_001127366,NM_181458,NM_181459,NM_181461,NM_181460,NM_181457,NM_013942,NM_000438 PAX3,PAX3,PAX3,PAX3,PAX3,PAX3,PAX3,PAX3 EXON Missense_D143Y,Missense_D144Y,Missense_D144Y,Missense_D144Y,Missense_D144Y,Missense_D144Y,Missense_D144Y,Missense_D144Y exm270399 2 223160316 [T/C] NM_001127366,NM_181458,NM_181459,NM_181461,NM_181460,NM_181457,NM_013942,NM_000438 PAX3,PAX3,PAX3,PAX3,PAX3,PAX3,PAX3,PAX3 EXON Missense_M127V,Missense_M128V,Missense_M128V,Missense_M128V,Missense_M128V,Missense_M128V,Missense_M128V,Missense_M128V exm270415 2 223168695 [A/G] NM_153038 CCDC140 EXON Missense_Q25R exm270419 2 223168803 [A/G] NM_153038 CCDC140 EXON Nonsense_W61X exm270420 2 223168826 [T/C] NM_153038 CCDC140 EXON Missense_P69S exm270424 2 223168886 [A/G] NM_153038 CCDC140 EXON Missense_V89I exm270426 2 223168907 [A/C] NM_153038 CCDC140 EXON Missense_T96P exm270443 2 223339378 [T/C] NM_152386 SGPP2 EXON Missense_T104M exm270446 2 223339437 [A/C] NM_152386 SGPP2 EXON Missense_I124L exm2265390 2 223366832 [A/G] NM_152386 SGPP2 Silent exm270453 2 223386652 [T/G] NM_152386 SGPP2 EXON Missense_M182R exm270456 2 223389693 [A/G] NM_152386 SGPP2 EXON Missense_V197M exm270463 2 223423066 [A/G] NM_152386 SGPP2 EXON Missense_D217N exm270467 2 223423135 [A/G] NM_152386 SGPP2 EXON Missense_D240N exm270472 2 223423283 [T/C] NM_152386 SGPP2 EXON Missense_I289T exm270479 2 223423367 [C/G] NM_152386 SGPP2 EXON Missense_T317S exm270489 2 223423511 [A/G] NM_152386 SGPP2 EXON Missense_R365Q exm270537 2 223497945 [T/C] NM_005687 FARSB EXON Missense_V230I exm270543 2 223499142 [A/G] NM_005687 FARSB EXON Missense_Y192H exm270548 2 223504312 [G/C] NM_005687 FARSB EXON Missense_Q148E exm270549 2 223504326 [T/C] NM_005687 FARSB EXON Missense_Q143R exm270551 2 223504374 [T/C] NM_005687 FARSB EXON Missense_R127H exm270554 2 223505628 [A/G] NM_005687 FARSB EXON Missense_R98W exm270567 2 223520744 [A/G] NM_005687 FARSB EXON Missense_R17C exm270575 2 223536541 [A/G] NM_058165 MOGAT1 EXON Missense_A13T exm270585 2 223553174 [T/G] NM_058165 MOGAT1 EXON Missense_G69V exm270588 2 223553186 [T/G] NM_058165 MOGAT1 EXON Missense_S73I exm270593 2 223554054 [A/C] NM_058165 MOGAT1 EXON Missense_A115E exm-IND2-223262369 2 223554126 [D/I] NM_058165 MOGAT1 EXON exm270602 2 223559079 [A/G] NM_058165 MOGAT1 Silent exm270603 2 223559089 [T/C] NM_058165 MOGAT1 EXON Missense_S163P exm270604 2 223559095 [T/G] NM_058165 MOGAT1 EXON Missense_S165A exm270605 2 223559111 [A/C] NM_058165 MOGAT1 EXON Missense_S170Y exm270606 2 223559116 [A/C] NM_058165 MOGAT1 EXON Missense_M172L exm270607 2 223559161 [C/G] NM_058165 MOGAT1 EXON Missense_G187R exm270608 2 223559188 [T/C] NM_058165 MOGAT1 EXON Missense_H196Y exm2273864 2 223559216 [A/G] NM_058165 MOGAT1 EXON Missense_R205H exm270610 2 223559222 [A/G] NM_058165 MOGAT1 EXON Missense_R207Q exm270611 2 223559253 [A/T] NM_058165 MOGAT1 EXON Missense_H217Q exm270612 2 223559809 [A/G] NM_058165 MOGAT1 EXON Missense_A219T exm270618 2 223559945 [A/C] NM_058165 MOGAT1 EXON Missense_A264D exm270621 2 223574481 [A/G] NM_058165 MOGAT1 EXON Missense_T294A exm270628 2 223574560 [T/A] NM_058165 MOGAT1 EXON Missense_H320L exm270666 2 223783831 [A/G] NM_203372,NM_004457 ACSL3,ACSL3 EXON Missense_G239E,Missense_G239E exm270669 2 223783881 [A/G] NM_203372,NM_004457 ACSL3,ACSL3 EXON Missense_M256V,Missense_M256V exm270670 2 223783909 [A/G] NM_203372,NM_004457 ACSL3,ACSL3 EXON Missense_K265R,Missense_K265R exm2002366 2 223787514 [A/G] NM_203372,NM_004457 ACSL3,ACSL3 EXON Missense_I349V,Missense_I349V exm270689 2 223789292 [A/G] NM_203372,NM_004457 ACSL3,ACSL3 EXON Missense_R424H,Missense_R424H exm270690 2 223789309 [A/G] NM_203372,NM_004457 ACSL3,ACSL3 EXON Missense_D430N,Missense_D430N exm2002375 2 223791814 [A/G] NM_203372,NM_004457 ACSL3,ACSL3 EXON Missense_T458A,Missense_T458A exm270698 2 223795408 [A/T] NM_203372,NM_004457 ACSL3,ACSL3 EXON Missense_M537K,Missense_M537K exm270700 2 223795450 [T/C] NM_203372,NM_004457 ACSL3,ACSL3 EXON Missense_F551S,Missense_F551S exm270711 2 223799341 [C/G] NM_203372,NM_004457 ACSL3,ACSL3 EXON Missense_E647D,Missense_E647D exm270712 2 223799399 [A/G] NM_203372,NM_004457 ACSL3,ACSL3 EXON Missense_I667V,Missense_I667V exm-rs7584993 2 223845942 [A/C] exm2269226 2 223873590 [T/C] exm270745 2 223917970 [A/C] NM_080671 KCNE4 EXON Missense_E192A exm270746 2 223917983 [T/G] NM_080671 KCNE4 EXON Missense_D196E exm-rs1440072 2 223936738 [T/C] exm2269227 2 224069989 [T/C] exm-rs1250914 2 224228654 [T/C] exm-rs16864755 2 224274622 [A/G] exm270758 2 224462310 [A/G] NM_003469 SCG2 EXON Missense_P564L exm270759 2 224462331 [T/A] NM_003469 SCG2 EXON Missense_Q557L exm270761 2 224462362 [T/C] NM_003469 SCG2 EXON Missense_I547V exm2002681 2 224462382 [T/C] NM_003469 SCG2 EXON Missense_E540G exm270766 2 224462553 [G/C] NM_003469 SCG2 EXON Missense_W483S exm270787 2 224463129 [T/C] NM_003469 SCG2 EXON Missense_Q291R exm270801 2 224463369 [T/G] NM_003469 SCG2 EXON Missense_P211Q exm270812 2 224463700 [T/C] NM_003469 SCG2 EXON Missense_E101K exm2237181 2 224463820 [A/G] NM_003469 SCG2 EXON Missense_Y61H exm2261188 2 224570781 [T/G] exm270828 2 224630005 [T/C] NM_001039569 AP1S3 EXON Missense_I118M exm270835 2 224640674 [A/C] NM_001039569 AP1S3 EXON Missense_L79V exm270841 2 224642472 [A/G] NM_001039569 AP1S3 EXON Missense_L40F exm270842 2 224642493 [A/G] NM_001039569 AP1S3 EXON Missense_R33W exm270843 2 224642495 [A/G] NM_001039569 AP1S3 EXON Missense_T32I exm270844 2 224642526 [T/C] NM_001039569 AP1S3 EXON Missense_T22A exm270846 2 224642579 [A/C] NM_001039569 AP1S3 EXON Missense_F4C exm2269228 2 224713026 [T/G] exm270850 2 224743407 [A/G] NM_020830 WDFY1 EXON Missense_T405I exm270851 2 224743410 [A/G] NM_020830 WDFY1 EXON Missense_A404V exm270852 2 224743432 [G/C] NM_020830 WDFY1 EXON Missense_P397A exm270856 2 224744852 [A/G] NM_020830 WDFY1 EXON Missense_R388C exm270858 2 224744878 [T/C] NM_020830 WDFY1 EXON Missense_G379E exm270862 2 224746659 [T/C] NM_020830 WDFY1 EXON Missense_D355G exm270866 2 224746756 [C/G] NM_020830 WDFY1 EXON Missense_G323R exm270879 2 224758989 [T/C] NM_020830 WDFY1 EXON Missense_G265R exm270902 2 224765900 [T/C] NM_020830 WDFY1 EXON Missense_Q162R exm270903 2 224765909 [A/G] NM_020830 WDFY1 EXON Missense_S159L exm270910 2 224765958 [T/C] NM_020830 WDFY1 EXON Missense_T143A exm270936 2 224822223 [A/G] NM_022915 MRPL44 EXON Missense_G12R exm270937 2 224822229 [T/C] NM_022915 MRPL44 EXON Missense_R14C exm270938 2 224822236 [T/G] NM_022915 MRPL44 EXON Missense_L16R exm270941 2 224822298 [T/G] NM_022915 MRPL44 EXON Missense_A37S exm270952 2 224824363 [A/G] NM_022915 MRPL44 EXON Missense_I98V exm270953 2 224824384 [T/C] NM_022915 MRPL44 EXON Missense_R105C exm270956 2 224824484 [T/C] NM_022915 MRPL44 EXON Missense_T138I exm270958 2 224824567 [A/G] NM_022915 MRPL44 EXON Missense_V166M exm2255043 2 224824617 [A/G] NM_022915 MRPL44 EXON Synonymous_E182E exm270965 2 224828570 [A/G] NM_022915 MRPL44 EXON Missense_N249S exm270968 2 224828615 [C/G] NM_022915 MRPL44 EXON Missense_T264S exm2255044 2 224837600 [A/G] exm270998 2 224849482 [A/C] NM_001136530,NM_001136528,NM_006216,NR_073116 SERPINE2,SERPINE2,SERPINE2,SERPINE2 EXON Missense_V303L,Missense_V291L,Missense_V291L,Silent exm271006 2 224849649 [T/C] NM_001136530,NM_001136528,NM_006216,NR_073116 SERPINE2,SERPINE2,SERPINE2,SERPINE2 EXON Missense_N247S,Missense_N235S,Missense_N235S,Silent exm2255045 2 224856572 [A/G] NM_001136530,NM_001136528,NM_006216,NR_073116 SERPINE2,SERPINE2,SERPINE2,SERPINE2 EXON Synonymous_D223D,Synonymous_D211D,Synonymous_D211D,Silent exm271011 2 224856574 [T/C] NM_001136530,NM_001136528,NM_006216,NR_073116 SERPINE2,SERPINE2,SERPINE2,SERPINE2 EXON Missense_D223N,Missense_D211N,Missense_D211N,Silent exm271017 2 224856655 [T/C] NM_001136530,NM_001136528,NM_006216,NR_073116 SERPINE2,SERPINE2,SERPINE2,SERPINE2 EXON Missense_V196I,Missense_V184I,Missense_V184I,Silent exm271025 2 224862903 [T/C] NM_001136530,NM_001136528,NM_006216,NR_073116 SERPINE2,SERPINE2,SERPINE2,SERPINE2 EXON Missense_R151Q,Missense_R139Q,Missense_R139Q,Silent exm271037 2 224866427 [A/G] NM_001136530,NM_001136528,NM_006216,NR_073116 SERPINE2,SERPINE2,SERPINE2,SERPINE2 EXON Missense_M76T,Missense_M64T,Missense_M64T,Silent exm271046 2 224866639 [T/C] NM_001136530,NM_001136528,NM_006216,NR_073116 SERPINE2,SERPINE2,SERPINE2,SERPINE2 EXON Synonymous_R5R,Silent,Silent,Silent exm2265391 2 224931733 [A/G] exm-rs2629046 2 225047744 [T/C] exm271051 2 225244352 [A/G] NM_001122779,NM_024785 FAM124B,FAM124B EXON Missense_L436F,Silent exm271066 2 225244828 [T/G] NM_001122779,NM_024785 FAM124B,FAM124B EXON Missense_T277N,Silent exm271069 2 225244888 [A/G] NM_001122779,NM_024785 FAM124B,FAM124B EXON Missense_I257T,Silent exm271085 2 225266040 [T/G] NM_001122779,NM_024785 FAM124B,FAM124B EXON Missense_Y149S,Missense_Y149S exm2273865 2 225266139 [A/G] NM_001122779,NM_024785 FAM124B,FAM124B EXON Missense_F116S,Missense_F116S exm271090 2 225266153 [A/C] NM_001122779,NM_024785 FAM124B,FAM124B EXON Missense_F111L,Missense_F111L exm2003207 2 225266211 [A/G] NM_001122779,NM_024785 FAM124B,FAM124B EXON Missense_S92L,Missense_S92L exm271117 2 225362478 [T/C] NM_001257197,NM_001257198,NM_003590 CUL3,CUL3,CUL3 EXON Missense_V501I,Missense_V573I,Missense_V567I exm2265278 2 225484736 [A/G] exm271165 2 225630508 [T/C] NM_014689 DOCK10 EXON Missense_C2164Y exm271167 2 225630539 [T/C] NM_014689 DOCK10 EXON Missense_D2154N exm271169 2 225630550 [A/G] NM_014689 DOCK10 EXON Missense_T2150M exm271170 2 225634954 [T/C] NM_014689 DOCK10 EXON Missense_E2140K exm271175 2 225635275 [T/C] NM_014689 DOCK10 EXON Missense_K2098E exm271208 2 225653845 [T/G] NM_014689 DOCK10 EXON Missense_P1785Q exm271211 2 225657713 [T/A] NM_014689 DOCK10 EXON Missense_L1763F exm271221 2 225659610 [T/C] NM_014689 DOCK10 EXON Missense_G1714R exm271231 2 225661694 [T/C] NM_014689 DOCK10 EXON Missense_R1605Q exm271256 2 225670857 [A/G] NM_014689 DOCK10 EXON Missense_L1267S exm271258 2 225670901 [C/G] NM_014689 DOCK10 EXON Missense_I1252M exm271268 2 225672767 [T/C] NM_014689 DOCK10 EXON Missense_R1149H exm271278 2 225688297 [G/C] NM_014689 DOCK10 EXON Missense_S1035C exm271284 2 225698868 [T/A] NM_014689 DOCK10 EXON Missense_K988M exm271294 2 225706555 [T/G] NM_014689 DOCK10 EXON Missense_Q876P exm271296 2 225706613 [T/C] NM_014689 DOCK10 EXON Missense_D857N exm271304 2 225710296 [T/C] NM_014689 DOCK10 EXON Missense_V767I exm271305 2 225710323 [A/G] NM_014689 DOCK10 EXON Missense_H758Y exm271306 2 225710359 [T/C] NM_014689 DOCK10 EXON Missense_V746M exm271309 2 225714274 [T/C] NM_014689 DOCK10 EXON Missense_A729T exm271311 2 225717117 [T/C] NM_014689 DOCK10 EXON Missense_E707K exm271321 2 225721677 [T/C] NM_014689 DOCK10 EXON Missense_G570R exm271333 2 225738769 [A/G] NM_014689 DOCK10 EXON Missense_L401F exm271340 2 225739440 [T/G] NM_014689 DOCK10 EXON Missense_E320D exm271344 2 225740784 [T/C] NM_014689 DOCK10 EXON Missense_R301K exm271347 2 225740905 [T/G] NM_014689 DOCK10 EXON Missense_K261Q exm2003480 2 225750874 [G/C] NM_014689 DOCK10 EXON Missense_G173A exm271361 2 225751189 [A/G] NM_014689 DOCK10 EXON Missense_A159V exm2003483 2 225751227 [A/C] NM_014689 DOCK10 EXON Missense_K146N exm271363 2 225761065 [A/C] NM_014689 DOCK10 EXON Missense_H121Q exm271365 2 225781437 [T/C] NM_014689 DOCK10 EXON Missense_K103R exm271367 2 225781476 [T/C] NM_014689 DOCK10 EXON Missense_R90H exm271370 2 225796307 [A/G] NM_014689 DOCK10 EXON Missense_P68S exm2273866 2 225796364 [T/C] NM_014689 DOCK10 EXON Missense_E49K exm2263966 2 225867091 [A/C] NM_014689 DOCK10 Silent exm-rs1517484 2 226237910 [T/C] exm271382 2 226273657 [G/C] NM_020864 NYAP2 EXON Missense_Q21E exm271388 2 226273749 [T/G] NM_020864 NYAP2 EXON Missense_N51K exm271391 2 226273801 [G/C] NM_020864 NYAP2 EXON Missense_E69Q exm271398 2 226378241 [A/G] NM_020864 NYAP2 EXON Missense_G126S exm271399 2 226378242 [A/G] NM_020864 NYAP2 EXON Missense_G126D exm271411 2 226446770 [A/G] NM_020864 NYAP2 EXON Missense_K213E exm271439 2 226447560 [T/C] NM_020864 NYAP2 EXON Missense_T476I exm271446 2 226447694 [A/G] NM_020864 NYAP2 EXON Missense_G521S exm271454 2 226491770 [A/C] NM_020864 NYAP2 EXON Missense_T586P exm271461 2 226516274 [A/G] NM_020864 NYAP2 EXON Missense_R652H exm2261194 2 226683986 [T/C] exm-rs7578326 2 227020653 [A/G] NR_046102 LOC646736 Silent exm-rs2943634 2 227068080 [A/C] exm-rs2943641 2 227093745 [T/C] exm-rs2972146 2 227100698 [T/G] exm-rs2943650 2 227105921 [T/C] exm-rs7558386 2 227562139 [A/G] exm2261196 2 227589780 [A/G] exm2237199 2 227659785 [G/C] NM_005544 IRS1 EXON Missense_E1224Q exm2003926 2 227659799 [A/G] NM_005544 IRS1 EXON Missense_T1219I exm271467 2 227659816 [T/G] NM_005544 IRS1 EXON Missense_S1213R exm271475 2 227660046 [T/C] NM_005544 IRS1 EXON Missense_D1137N exm271476 2 227660049 [T/C] NM_005544 IRS1 EXON Missense_E1136K exm271480 2 227660093 [A/G] NM_005544 IRS1 EXON Missense_A1121V exm2003931 2 227660220 [A/G] NM_005544 IRS1 EXON Missense_P1079S exm271493 2 227660234 [T/C] NM_005544 IRS1 EXON Missense_R1074Q exm271494 2 227660244 [T/C] NM_005544 IRS1 EXON Missense_A1071T exm271502 2 227660399 [A/G] NM_005544 IRS1 EXON Missense_I1019T exm271508 2 227660462 [T/C] NM_005544 IRS1 EXON Missense_R998H exm271511 2 227660544 [T/C] NM_005544 IRS1 EXON Missense_G971R exm2255062 2 227660689 [T/C] NM_005544 IRS1 EXON Synonymous_R922R exm271533 2 227660895 [A/G] NM_005544 IRS1 EXON Missense_R854C exm271537 2 227661003 [G/C] NM_005544 IRS1 EXON Missense_G818R exm271539 2 227661015 [T/C] NM_005544 IRS1 EXON Missense_D814N exm271542 2 227661057 [A/G] NM_005544 IRS1 EXON Missense_Y800H exm271545 2 227661116 [A/G] NM_005544 IRS1 EXON Missense_P780L exm271549 2 227661192 [A/C] NM_005544 IRS1 EXON Missense_D755Y exm271554 2 227661258 [T/C] NM_005544 IRS1 EXON Missense_M733V exm2273867 2 227661291 [T/C] NM_005544 IRS1 EXON Missense_G722S exm271563 2 227661390 [T/C] NM_005544 IRS1 EXON Missense_V689I exm271572 2 227661653 [A/G] NM_005544 IRS1 EXON Missense_P601L exm271586 2 227661921 [G/C] NM_005544 IRS1 EXON Missense_A512P exm2237203 2 227662829 [A/G] NM_005544 IRS1 EXON Missense_M209T exm271623 2 227663087 [T/C] NM_005544 IRS1 EXON Missense_G123E exm271625 2 227663108 [T/C] NM_005544 IRS1 EXON Missense_R116H exm271626 2 227663149 [G/C] NM_005544 IRS1 EXON Missense_E102D exm271629 2 227663262 [T/G] NM_005544 IRS1 EXON Missense_P65T exm271637 2 227729416 [T/C] NM_001167608,NM_032276 RHBDD1,RHBDD1 EXON Missense_R3W,Missense_R3W exm271640 2 227729447 [T/C] NM_001167608,NM_032276 RHBDD1,RHBDD1 EXON Missense_I13T,Missense_I13T exm2003959 2 227729495 [G/C] NM_001167608,NM_032276 RHBDD1,RHBDD1 EXON Missense_P29R,Missense_P29R exm271648 2 227729737 [A/G] NM_001167608,NM_032276 RHBDD1,RHBDD1 EXON Missense_A110T,Missense_A110T exm271651 2 227729791 [A/G] NM_001167608,NM_032276 RHBDD1,RHBDD1 EXON Missense_E128K,Missense_E128K exm271656 2 227731962 [T/C] NM_001167608,NM_032276 RHBDD1,RHBDD1 EXON Missense_I165T,Missense_I165T exm2237204 2 227731980 [T/C] NM_001167608,NM_032276 RHBDD1,RHBDD1 EXON Missense_P171L,Missense_P171L exm271657 2 227732016 [T/C] NM_001167608,NM_032276 RHBDD1,RHBDD1 EXON Missense_I183T,Missense_I183T exm271660 2 227771509 [T/G] NM_001167608,NM_032276 RHBDD1,RHBDD1 EXON Synonymous_G189G,Synonymous_G189G exm271662 2 227771589 [G/C] NM_001167608,NM_032276 RHBDD1,RHBDD1 EXON Missense_A216G,Missense_A216G exm-rs3820928 2 227773466 [T/C] NM_001167608,NM_032276 RHBDD1,RHBDD1 Silent,Silent exm271664 2 227773539 [T/C] NM_001167608,NM_032276 RHBDD1,RHBDD1 EXON Synonymous_G219G,Synonymous_G219G exm271674 2 227778999 [T/C] NM_001167608,NM_032276 RHBDD1,RHBDD1 EXON Missense_T263M,Missense_T263M exm271675 2 227779019 [A/G] NM_001167608,NM_032276 RHBDD1,RHBDD1 EXON Missense_E270K,Missense_E270K exm271679 2 227779066 [A/G] NM_001167608,NM_032276 RHBDD1,RHBDD1 EXON Synonymous_R285R,Synonymous_R285R exm2265282 2 227867719 [A/G] NM_000092 COL4A4 EXON Silent exm271703 2 227872783 [C/G] NM_000092 COL4A4 EXON Missense_P1587R exm271708 2 227872849 [T/C] NM_000092 COL4A4 EXON Missense_R1565H exm271725 2 227875130 [A/G] NM_000092 COL4A4 EXON Missense_T1474M exm271731 2 227875202 [A/G] NM_000092 COL4A4 EXON Missense_I1450T exm271739 2 227886773 [A/G] NM_000092 COL4A4 EXON Missense_S1403P exm271744 2 227886829 [A/G] NM_000092 COL4A4 EXON Missense_A1384V exm271756 2 227892704 [A/G] NM_000092 COL4A4 EXON Missense_P1332L exm271757 2 227892710 [A/G] NM_000092 COL4A4 EXON Missense_P1330L exm271758 2 227892720 [T/C] NM_000092 COL4A4 EXON Missense_V1327M exm271766 2 227895261 [C/G] NM_000092 COL4A4 EXON Missense_P1291A exm271797 2 227912247 [A/G] NM_000092 COL4A4 EXON Missense_A1078V exm271798 2 227912248 [T/C] NM_000092 COL4A4 EXON Missense_A1078T exm271804 2 227915832 [A/G] NM_000092 COL4A4 EXON Missense_P1004L exm271805 2 227915847 [T/C] NM_000092 COL4A4 EXON Missense_G999E exm2255064 2 227915858 [A/G] NM_000092 COL4A4 EXON Synonymous_P995P exm271812 2 227917090 [T/C] NM_000092 COL4A4 EXON Missense_I967V exm271817 2 227919379 [T/C] NM_000092 COL4A4 EXON Missense_A931T exm271822 2 227920730 [T/G] NM_000092 COL4A4 EXON Missense_P883T exm271824 2 227920748 [A/G] NM_000092 COL4A4 EXON Missense_R877W exm271847 2 227924228 [A/G] NM_000092 COL4A4 EXON Missense_P759L exm271849 2 227924333 [T/C] NM_000092 COL4A4 EXON Missense_R724H exm271851 2 227924855 [A/G] NM_000092 COL4A4 EXON Missense_P721S exm271853 2 227924872 [A/G] NM_000092 COL4A4 EXON Missense_A715V exm271860 2 227927294 [T/C] NM_000092 COL4A4 EXON Missense_V670I exm271868 2 227942778 [T/C] NM_000092 COL4A4 EXON Missense_A607T exm2237207 2 227945164 [T/G] NM_000092 COL4A4 EXON Missense_P600T exm271871 2 227945181 [T/C] NM_000092 COL4A4 EXON Missense_E594G exm271877 2 227946893 [C/G] NM_000092 COL4A4 EXON Missense_G545A exm271889 2 227954599 [A/G] NM_000092 COL4A4 EXON Missense_P482S exm271890 2 227954608 [G/C] NM_000092 COL4A4 EXON Missense_G479R exm271891 2 227954649 [A/G] NM_000092 COL4A4 EXON Missense_P465L exm271901 2 227959005 [T/C] NM_000092 COL4A4 EXON Missense_G402D exm271904 2 227963412 [A/G] NM_000092 COL4A4 EXON Missense_A401V exm271918 2 227967864 [T/C] NM_000092 COL4A4 EXON Missense_R289H exm271931 2 227973309 [T/G] NM_000092 COL4A4 EXON Missense_Q241H exm2261198 2 227973892 [T/C] NM_000092 COL4A4 Silent exm271950 2 227979361 [A/C] NM_000092 COL4A4 EXON Missense_A181S exm271972 2 228012150 [T/C] NM_000092 COL4A4 EXON Missense_K17R exm271973 2 228012183 [A/G] NM_000092 COL4A4 EXON Missense_I6T exm271985 2 228102723 [C/G] NM_000091 COL4A3 EXON Missense_G43R exm271986 2 228102732 [A/G] NM_000091 COL4A3 EXON Missense_G46R exm271998 2 228109075 [G/C] NM_000091 COL4A3 EXON Missense_V92L exm271999 2 228109081 [A/G] NM_000091 COL4A3 Silent exm272005 2 228110691 [A/C] NM_000091 COL4A3 EXON Missense_P116T exm272013 2 228111435 [T/C] NM_000091 COL4A3 EXON Missense_L141P exm272020 2 228113175 [A/G] NM_000091 COL4A3 EXON Missense_E162G exm272032 2 228118052 [A/G] NM_000091 COL4A3 EXON Missense_R229Q exm272046 2 228118867 [A/G] NM_000091 COL4A3 EXON Missense_E269K exm272059 2 228121101 [T/G] NM_000091 COL4A3 EXON Missense_D326Y exm272072 2 228128568 [A/G] NM_000091 COL4A3 EXON Missense_R408H exm272076 2 228128655 [T/C] NM_000091 COL4A3 EXON Missense_P437L exm272080 2 228131169 [A/G] NM_000091 COL4A3 EXON Missense_H451R exm272090 2 228134637 [A/G] NM_000091 COL4A3 EXON Missense_A506T exm272102 2 228135631 [T/C] NM_000091 COL4A3 EXON Missense_P574L exm272105 2 228137792 [T/C] NM_000091 COL4A3 EXON Missense_T629M exm272115 2 228144551 [T/C] NM_000091 COL4A3 EXON Missense_P723L exm272125 2 228145709 [C/G] NM_000091 COL4A3 EXON Missense_L825F exm272127 2 228147093 [A/G] NM_000091 COL4A3 EXON Missense_K834R exm272142 2 228154765 [T/C] NM_000091 COL4A3 EXON Missense_R1011C exm272145 2 228155574 [A/G] NM_000091 COL4A3 EXON Missense_G1061D exm272147 2 228155592 [C/G] NM_000091 COL4A3 EXON Missense_P1067R exm272149 2 228157923 [T/C] NM_000091 COL4A3 EXON Missense_P1076L exm272153 2 228158021 [T/C] NM_000091 COL4A3 EXON Missense_P1109S exm272162 2 228159701 [T/C] NM_000091 COL4A3 EXON Missense_S1147F exm2004172 2 228159737 [A/G] NM_000091 COL4A3 EXON Missense_R1159H exm2004179 2 228162451 [A/G] NM_000091 COL4A3 EXON Missense_M1209I exm272169 2 228162468 [A/G] NM_000091 COL4A3 EXON Missense_R1215Q exm272170 2 228162546 [A/G] NM_000091 COL4A3 EXON Missense_R1241H exm272172 2 228163453 [A/C] NM_000091 COL4A3 EXON Missense_D1269E exm272174 2 228163475 [A/G] NM_000091 COL4A3 EXON Missense_G1277S exm272176 2 228163524 [A/G] NM_000091 COL4A3 EXON Missense_R1293H exm272192 2 228168748 [A/C] NM_000091 COL4A3 EXON Missense_D1347E exm272204 2 228172468 [A/G] NM_000091 COL4A3 EXON Missense_R1432H exm272209 2 228172594 [T/C] NM_000091 COL4A3 EXON Missense_L1474P exm272210 2 228172618 [T/C] NM_000091 COL4A3 EXON Missense_A1482V exm272212 2 228173618 [T/C] NM_000091 COL4A3 EXON Missense_T1489I exm272215 2 228173636 [A/G] NM_000091 COL4A3 EXON Missense_Q1495R exm272218 2 228173662 [T/C] NM_000091 COL4A3 EXON Missense_F1504L exm272219 2 228173675 [A/G] NM_000091 COL4A3 EXON Missense_N1508S exm272234 2 228176554 [T/C] NM_000091 COL4A3 EXON Missense_R1661C exm272238 2 228194481 [T/G] NM_020194 MFF EXON Missense_S7I exm272239 2 228194483 [T/G] NM_020194 MFF EXON Missense_D8Y exm272249 2 228195407 [A/G] NM_020194 MFF EXON Missense_Y35C exm272262 2 228197237 [T/C] NM_020194 MFF EXON Missense_T121M exm272267 2 228205007 [A/G] NM_020194 MFF Silent exm272270 2 228205039 [A/G] NM_020194 MFF EXON Missense_R154Q exm272272 2 228205059 [A/G] NM_020194 MFF EXON Missense_V161I exm272273 2 228205062 [T/C] NM_020194 MFF EXON Missense_R162C exm272294 2 228217240 [T/C] NM_020194 MFF EXON Missense_R255C exm272302 2 228220422 [T/C] NM_020194 MFF EXON Missense_I281T exm272309 2 228221741 [A/G] NM_020194 MFF EXON Missense_E313K exm272321 2 228228462 [T/G] NM_024795 TM4SF20 EXON Missense_K223T exm2004237 2 228228558 [A/G] NM_024795 TM4SF20 EXON Missense_V191A exm272328 2 228228619 [T/C] NM_024795 TM4SF20 EXON Missense_R171G exm2004240 2 228228719 [T/A] NM_024795 TM4SF20 EXON Missense_H137Q exm272335 2 228230836 [T/C] NM_024795 TM4SF20 EXON Missense_N125S exm272336 2 228230851 [G/C] NM_024795 TM4SF20 EXON Missense_S120T exm272340 2 228230945 [A/G] NM_024795 TM4SF20 EXON Missense_L89F exm272347 2 228235653 [A/G] NM_024795 TM4SF20 EXON Missense_A76V exm272348 2 228235655 [T/A] NM_024795 TM4SF20 EXON Missense_R75S exm272353 2 228243900 [T/G] NM_024795 TM4SF20 EXON Missense_P29T exm272354 2 228243902 [A/G] NM_024795 TM4SF20 EXON Missense_I28T exm272355 2 228243905 [A/G] NM_024795 TM4SF20 EXON Missense_A27V exm272356 2 228243908 [T/C] NM_024795 TM4SF20 EXON Missense_N26S exm272380 2 228388517 [T/C] NM_001135187,NM_001135188,NM_001135189,NM_004504 AGFG1,AGFG1,AGFG1,AGFG1 EXON Missense_V139A,Missense_V139A,Missense_V139A,Missense_V139A exm272391 2 228389493 [T/C] NM_001135187,NM_001135188,NM_001135189,NM_004504 AGFG1,AGFG1,AGFG1,AGFG1 EXON Missense_R186C,Missense_R186C,Missense_R186C,Missense_R186C exm272392 2 228389494 [A/G] NM_001135187,NM_001135188,NM_001135189,NM_004504 AGFG1,AGFG1,AGFG1,AGFG1 EXON Missense_R186H,Missense_R186H,Missense_R186H,Missense_R186H exm2004277 2 228389571 [C/G] NM_001135187,NM_001135188,NM_001135189,NM_004504 AGFG1,AGFG1,AGFG1,AGFG1 EXON Missense_A212P,Missense_A212P,Missense_A212P,Missense_A212P exm272399 2 228395902 [A/T] NM_001135187,NM_001135188,NM_001135189,NM_004504 AGFG1,AGFG1,AGFG1,AGFG1 EXON Missense_S264T,Missense_S264T,Silent,Missense_S264T exm2255066 2 228398422 [A/G] NM_001135187,NM_001135188,NM_001135189,NM_004504 AGFG1,AGFG1,AGFG1,AGFG1 EXON Synonymous_A348A,Synonymous_A324A,Synonymous_A284A,Synonymous_A324A exm272405 2 228398457 [T/C] NM_001135187,NM_001135188,NM_001135189,NM_004504 AGFG1,AGFG1,AGFG1,AGFG1 EXON Missense_I360T,Missense_I336T,Missense_I296T,Missense_I336T exm272407 2 228399597 [A/G] NM_001135187,NM_001135188,NM_001135189,NM_004504 AGFG1,AGFG1,AGFG1,AGFG1 EXON Missense_K378R,Missense_K354R,Missense_K314R,Missense_K354R exm272410 2 228399714 [T/C] NM_001135187,NM_001135188,NM_001135189,NM_004504 AGFG1,AGFG1,AGFG1,AGFG1 EXON Missense_A417V,Missense_A393V,Missense_A353V,Missense_A393V exm272415 2 228401382 [T/C] NM_001135187,NM_001135188,NM_001135189,NM_004504 AGFG1,AGFG1,AGFG1,AGFG1 EXON Missense_T440I,Missense_T416I,Missense_T376I,Missense_T416I exm272432 2 228416831 [A/G] NM_001135187,NM_001135188,NM_001135189,NM_004504 AGFG1,AGFG1,AGFG1,AGFG1 EXON Missense_N536S,Missense_N512S,Missense_N472S,Missense_N512S exm272438 2 228419171 [A/G] NM_001135187,NM_001135188,NM_001135189,NM_004504 AGFG1,AGFG1,AGFG1,AGFG1 EXON Missense_Q572R,Missense_Q548R,Missense_Q510R,Missense_Q550R exm272443 2 228476140 [T/C] NM_020161,NM_001162483 C2orf83,C2orf83 EXON Nonsense_W141X,Silent exm272449 2 228476253 [G/C] NM_020161,NM_001162483 C2orf83,C2orf83 EXON Missense_E104Q,Silent exm272453 2 228476316 [T/C] NM_020161,NM_001162483 C2orf83,C2orf83 EXON Missense_V83I,Silent exm272457 2 228493211 [A/G] NM_020161,NM_001162483 C2orf83,C2orf83 EXON Missense_S45L,Missense_S45L exm272470 2 228552234 [T/C] NM_025243 SLC19A3 EXON Missense_S457N exm272478 2 228552881 [T/C] NM_025243 SLC19A3 Silent exm272485 2 228560632 [T/C] NM_025243 SLC19A3 EXON Missense_S382N exm272488 2 228560645 [T/C] NM_025243 SLC19A3 EXON Missense_I378V exm2004308 2 228560665 [A/G] NM_025243 SLC19A3 EXON Missense_A371V exm272489 2 228560721 [G/C] NM_025243 SLC19A3 EXON Missense_F352L exm272490 2 228560728 [A/G] NM_025243 SLC19A3 EXON Missense_V350A exm2273868 2 228563530 [T/C] NM_025243 SLC19A3 EXON Missense_I301V exm272509 2 228563810 [T/C] NM_025243 SLC19A3 EXON Missense_I207M exm272510 2 228563818 [T/C] NM_025243 SLC19A3 EXON Missense_R205G exm272513 2 228563874 [A/G] NM_025243 SLC19A3 EXON Missense_F186S exm272517 2 228563911 [T/C] NM_025243 SLC19A3 EXON Missense_V174I exm272530 2 228564094 [A/G] NM_025243 SLC19A3 EXON Missense_Y113H exm272536 2 228564244 [A/G] NM_025243 SLC19A3 EXON Missense_Y63H exm272558 2 228680199 [T/C] NM_001130046,NM_004591 CCL20,CCL20 EXON Missense_Y35H,Missense_Y36H exm272560 2 228680275 [A/G] NM_001130046,NM_004591 CCL20,CCL20 EXON Missense_N60S,Missense_N61S exm-rs7591163 2 228715375 [T/C] exm272573 2 228750073 [T/C] NM_178821 DAW1 EXON Missense_M16T exm272576 2 228750106 [T/C] NM_178821 DAW1 EXON Missense_T27I exm272579 2 228754582 [A/G] NM_178821 DAW1 EXON Missense_S42G exm272582 2 228754609 [A/G] NM_178821 DAW1 EXON Missense_A51T exm2004358 2 228758512 [T/G] NM_178821 DAW1 EXON Missense_F107V exm272587 2 228758537 [T/C] NM_178821 DAW1 EXON Missense_T115M exm272588 2 228758554 [A/T] NM_178821 DAW1 EXON Missense_T121S exm2004359 2 228758555 [T/C] NM_178821 DAW1 EXON Missense_T121I exm272596 2 228758626 [T/C] NM_178821 DAW1 EXON Missense_P145S exm272600 2 228767722 [T/G] NM_178821 DAW1 EXON Missense_C182F exm272604 2 228767773 [A/C] NM_178821 DAW1 EXON Missense_T199K exm272610 2 228769729 [A/G] NM_178821 DAW1 EXON Missense_V245M exm272614 2 228770971 [A/G] NM_178821 DAW1 EXON Missense_G259S exm272618 2 228771023 [T/C] NM_178821 DAW1 EXON Missense_I276T exm272622 2 228771929 [A/G] NM_178821 DAW1 EXON Missense_D312N exm2237218 2 228771966 [A/C] NM_178821 DAW1 EXON Missense_D324A exm-rs10191097 2 228776671 [T/G] NM_178821 DAW1 Silent exm272630 2 228786115 [T/A] NM_178821 DAW1 EXON Missense_I351F exm2269229 2 228843948 [T/C] exm272649 2 228855866 [G/C] NM_001142644,NM_030623 SPHKAP,SPHKAP EXON Missense_S1603R,Missense_S1574R exm272650 2 228855879 [A/G] NM_001142644,NM_030623 SPHKAP,SPHKAP EXON Missense_T1599M,Missense_T1570M exm272655 2 228855993 [T/C] NM_001142644,NM_030623 SPHKAP,SPHKAP EXON Missense_E1591K,Missense_E1562K exm272667 2 228860349 [T/C] NM_001142644,NM_030623 SPHKAP,SPHKAP EXON Missense_D1504N,Missense_D1504N exm272679 2 228881267 [T/G] NM_001142644,NM_030623 SPHKAP,SPHKAP EXON Missense_Q1435K,Missense_Q1435K exm272690 2 228881465 [T/C] NM_001142644,NM_030623 SPHKAP,SPHKAP EXON Missense_D1369N,Missense_D1369N exm272691 2 228881489 [T/C] NM_001142644,NM_030623 SPHKAP,SPHKAP EXON Missense_T1361A,Missense_T1361A exm272695 2 228881588 [T/C] NM_001142644,NM_030623 SPHKAP,SPHKAP EXON Missense_A1328T,Missense_A1328T exm2004402 2 228881697 [C/G] NM_001142644,NM_030623 SPHKAP,SPHKAP EXON Missense_C1291W,Missense_C1291W exm272717 2 228881941 [T/G] NM_001142644,NM_030623 SPHKAP,SPHKAP EXON Missense_A1210D,Missense_A1210D exm272734 2 228882253 [A/G] NM_001142644,NM_030623 SPHKAP,SPHKAP EXON Missense_L1106P,Missense_L1106P exm272738 2 228882431 [T/C] NM_001142644,NM_030623 SPHKAP,SPHKAP EXON Missense_M1047V,Missense_M1047V exm272762 2 228882970 [T/C] NM_001142644,NM_030623 SPHKAP,SPHKAP EXON Missense_Q867R,Missense_Q867R exm272763 2 228882979 [A/G] NM_001142644,NM_030623 SPHKAP,SPHKAP EXON Missense_T864M,Missense_T864M exm272771 2 228883029 [A/C] NM_001142644,NM_030623 SPHKAP,SPHKAP EXON Missense_H847Q,Missense_H847Q exm272772 2 228883043 [T/C] NM_001142644,NM_030623 SPHKAP,SPHKAP EXON Missense_T843A,Missense_T843A exm272784 2 228883264 [A/G] NM_001142644,NM_030623 SPHKAP,SPHKAP EXON Missense_S769F,Missense_S769F exm272797 2 228883583 [T/C] NM_001142644,NM_030623 SPHKAP,SPHKAP EXON Missense_V663I,Missense_V663I exm272812 2 228883801 [A/G] NM_001142644,NM_030623 SPHKAP,SPHKAP EXON Missense_P590L,Missense_P590L exm272814 2 228883868 [T/C] NM_001142644,NM_030623 SPHKAP,SPHKAP EXON Missense_V568M,Missense_V568M exm272816 2 228883876 [A/G] NM_001142644,NM_030623 SPHKAP,SPHKAP EXON Missense_A565V,Missense_A565V exm272820 2 228883976 [T/C] NM_001142644,NM_030623 SPHKAP,SPHKAP EXON Missense_S532G,Missense_S532G exm272831 2 228884216 [T/C] NM_001142644,NM_030623 SPHKAP,SPHKAP EXON Missense_V452I,Missense_V452I exm2004422 2 228884362 [T/G] NM_001142644,NM_030623 SPHKAP,SPHKAP EXON Missense_A403E,Missense_A403E exm272839 2 228884426 [T/G] NM_001142644,NM_030623 SPHKAP,SPHKAP EXON Missense_Q382K,Missense_Q382K exm272842 2 228884530 [A/G] NM_001142644,NM_030623 SPHKAP,SPHKAP EXON Missense_S347F,Missense_S347F exm272847 2 228884623 [T/C] NM_001142644,NM_030623 SPHKAP,SPHKAP EXON Missense_G316E,Missense_G316E exm272848 2 228884650 [T/G] NM_001142644,NM_030623 SPHKAP,SPHKAP EXON Missense_Q307P,Missense_Q307P exm272849 2 228884686 [A/G] NM_001142644,NM_030623 SPHKAP,SPHKAP EXON Missense_A295V,Missense_A295V exm272852 2 228884750 [T/C] NM_001142644,NM_030623 SPHKAP,SPHKAP EXON Missense_N274D,Missense_N274D exm272855 2 228884872 [T/C] NM_001142644,NM_030623 SPHKAP,SPHKAP EXON Missense_D233G,Missense_D233G exm272866 2 228886541 [T/C] NM_001142644,NM_030623 SPHKAP,SPHKAP EXON Missense_N195D,Missense_N195D exm272870 2 228886625 [T/C] NM_001142644,NM_030623 SPHKAP,SPHKAP EXON Missense_S167G,Missense_S167G exm272879 2 228892238 [T/C] NM_001142644,NM_030623 SPHKAP,SPHKAP EXON Missense_V90M,Missense_V90M exm272882 2 228973648 [T/C] NM_001142644,NM_030623 SPHKAP,SPHKAP EXON Missense_R49H,Missense_R49H exm272890 2 228996710 [T/G] NM_001142644,NM_030623 SPHKAP,SPHKAP EXON Missense_T42P,Missense_T42P exm2265393 2 229079715 [A/G] exm2269230 2 229328281 [T/C] exm272900 2 229890400 [T/C] NM_001100818,NM_017933 PID1,PID1 EXON Missense_S201N,Missense_S232N exm272909 2 229890514 [A/T] NM_001100818,NM_017933 PID1,PID1 EXON Missense_D163V,Missense_D194V exm272922 2 229890733 [A/G] NM_001100818,NM_017933 PID1,PID1 EXON Missense_T90M,Missense_T121M exm272923 2 229890734 [T/A] NM_001100818,NM_017933 PID1,PID1 EXON Missense_T90S,Missense_T121S exm2269231 2 229977915 [T/C] NM_001100818,NM_017933 PID1,PID1 Silent,Silent exm272950 2 230231632 [T/C] NM_139072 DNER EXON Missense_D687N exm272957 2 230231749 [T/C] NM_139072 DNER EXON Missense_V648M exm272960 2 230231812 [T/C] NM_139072 DNER EXON Missense_M627V exm272968 2 230253034 [A/T] NM_139072 DNER EXON Missense_N601I exm272975 2 230282859 [T/C] NM_139072 DNER EXON Missense_N525S exm272986 2 230312205 [A/G] NM_139072 DNER EXON Missense_P438L exm272988 2 230312215 [A/C] NM_139072 DNER EXON Missense_A435S exm272993 2 230341855 [T/C] NM_139072 DNER Silent exm272994 2 230341874 [T/G] NM_139072 DNER EXON Missense_T415P exm273000 2 230377595 [T/C] NM_139072 DNER EXON Missense_D351N exm273009 2 230411712 [T/G] NM_139072 DNER EXON Missense_N315T exm273010 2 230411730 [A/G] NM_139072 DNER EXON Missense_P309L exm273011 2 230411766 [T/C] NM_139072 DNER EXON Missense_R297H exm273018 2 230450646 [T/A] NM_139072 DNER EXON Missense_T259S exm2005085 2 230450693 [A/G] NM_139072 DNER EXON Missense_T243M exm273023 2 230453140 [A/G] NM_139072 DNER EXON Missense_S217F exm273037 2 230456379 [A/G] NM_139072 DNER EXON Missense_R168C exm2005089 2 230456445 [T/C] NM_139072 DNER EXON Missense_E146K exm273043 2 230456456 [A/G] NM_139072 DNER EXON Missense_T142I exm273050 2 230456585 [G/C] NM_139072 DNER EXON Missense_A99G exm2273869 2 230632309 [T/C] NM_004238 TRIP12 EXON Missense_I1980M exm273092 2 230655841 [A/G] NM_004238 TRIP12 EXON Synonymous_H1439H exm273118 2 230662500 [T/C] NM_004238 TRIP12 EXON Missense_E1102G exm273162 2 230672483 [A/C] NM_004238 TRIP12 EXON Missense_W765G exm273179 2 230678650 [A/G] NM_004238 TRIP12 EXON Missense_T593M exm273181 2 230678950 [A/G] NM_004238 TRIP12 EXON Missense_A560V exm273191 2 230683176 [T/A] NM_004238 TRIP12 EXON Missense_Q453H exm273196 2 230693910 [A/C] NM_004238 TRIP12 EXON Synonymous_A435A exm273197 2 230693923 [A/G] NM_004238 TRIP12 EXON Missense_I431T exm273203 2 230701669 [T/C] NM_004238 TRIP12 EXON Missense_A347T exm273211 2 230723530 [A/T] NM_004238 TRIP12 EXON Missense_T287S exm273215 2 230723595 [T/C] NM_004238 TRIP12 EXON Missense_R265H exm2005259 2 230723610 [A/C] NM_004238 TRIP12 EXON Missense_F260C exm2005263 2 230723797 [A/C] NM_004238 TRIP12 EXON Missense_S198A exm2005268 2 230724099 [T/C] NM_004238 TRIP12 EXON Missense_H97R exm273237 2 230744732 [T/C] NM_004238 TRIP12 EXON Missense_G22R exm273244 2 230840964 [T/G] NM_174899 FBXO36 EXON Missense_F35C exm273245 2 230840967 [C/G] NM_174899 FBXO36 EXON Missense_R36T exm273246 2 230841011 [T/C] NM_174899 FBXO36 EXON Missense_P51S exm273254 2 230861506 [A/G] NM_174899 FBXO36 EXON Missense_Y82C exm273267 2 230875554 [A/G] NM_174899 FBXO36 EXON Missense_R174H exm273269 2 230875595 [T/C] NM_174899 FBXO36 EXON Missense_P188S exm273272 2 230902140 [T/C] NM_152527 SLC16A14 EXON Missense_I497V exm273280 2 230910463 [C/G] NM_152527 SLC16A14 EXON Missense_A460G exm273287 2 230910614 [C/G] NM_152527 SLC16A14 EXON Missense_V410L exm273294 2 230910707 [T/C] NM_152527 SLC16A14 EXON Missense_I379V exm273302 2 230910965 [T/C] NM_152527 SLC16A14 EXON Missense_V293I exm273309 2 230911193 [T/C] NM_152527 SLC16A14 EXON Missense_N217D exm273311 2 230911292 [A/C] NM_152527 SLC16A14 EXON Missense_A184S exm2005474 2 230914601 [A/G] NM_152527 SLC16A14 EXON Synonymous_F93F exm273335 2 231033860 [C/G] NM_080424,NM_004509 SP110,SP110 EXON Missense_G708R,Missense_G684R exm273336 2 231033862 [T/C] NM_080424,NM_004509 SP110,SP110 EXON Missense_G707D,Missense_G683D exm273342 2 231033928 [A/G] NM_080424,NM_004509 SP110,SP110 EXON Missense_L685P,Missense_L661P exm273344 2 231035359 [T/C] NM_080424,NM_004509 SP110,SP110 EXON Missense_R669H,Missense_R645H exm273363 2 231036425 [T/C] NM_080424,NM_004509 SP110,SP110 EXON Missense_G625D,Silent exm273364 2 231036428 [A/G] NM_080424,NM_004509 SP110,SP110 EXON Missense_T624M,Silent exm273368 2 231036860 [T/C] NM_080424,NM_004509 SP110,SP110 EXON Missense_M579I,Missense_M579I exm273376 2 231037654 [T/C] NM_080424,NM_004509 SP110,SP110 EXON Missense_E538K,Missense_E538K exm273379 2 231037675 [A/G] NM_080424,NM_004509 SP110,SP110 EXON Missense_R531W,Missense_R531W exm273383 2 231041401 [T/C] NM_080424,NM_004509,NM_001185015,NM_004510 SP110,SP110,SP110,SP110 EXON Silent,Silent,Missense_R550G,Missense_R544G exm273388 2 231042288 [T/C] NM_080424,NM_004509,NM_001185015,NM_004510 SP110,SP110,SP110,SP110 EXON Missense_R519H,Missense_R519H,Missense_R525H,Missense_R519H exm273392 2 231042873 [T/C] NM_080424,NM_004509,NM_001185015,NM_004510 SP110,SP110,SP110,SP110 EXON Missense_G483R,Missense_G483R,Missense_G489R,Missense_G483R exm2005624 2 231048312 [A/G] NM_080424,NM_004509,NM_001185015,NM_004510 SP110,SP110,SP110,SP110 EXON Missense_F442L,Missense_F442L,Missense_F448L,Missense_F442L exm273396 2 231048321 [T/C] NM_080424,NM_004509,NM_001185015,NM_004510 SP110,SP110,SP110,SP110 EXON Missense_K439E,Missense_K439E,Missense_K445E,Missense_K439E exm273411 2 231065630 [A/G] NM_080424,NM_004509,NM_001185015,NM_004510 SP110,SP110,SP110,SP110 EXON Missense_T367M,Missense_T367M,Missense_T373M,Missense_T367M exm273421 2 231072709 [T/C] NM_080424,NM_004509,NM_001185015,NM_004510 SP110,SP110,SP110,SP110 EXON Missense_G299R,Missense_G299R,Missense_G305R,Missense_G299R exm2005642 2 231072762 [T/C] NM_080424,NM_004509,NM_001185015,NM_004510 SP110,SP110,SP110,SP110 EXON Missense_K281R,Missense_K281R,Missense_K287R,Missense_K281R exm273426 2 231076191 [T/C] NM_080424,NM_004509,NM_001185015,NM_004510 SP110,SP110,SP110,SP110 EXON Missense_M249V,Missense_M249V,Missense_M255V,Missense_M249V exm2005651 2 231077517 [A/C] NM_080424,NM_004509,NM_001185015,NM_004510 SP110,SP110,SP110,SP110 EXON Missense_L181R,Missense_L181R,Missense_L187R,Missense_L181R exm273440 2 231077608 [A/G] NM_080424,NM_004509,NM_001185015,NM_004510 SP110,SP110,SP110,SP110 EXON Missense_P151S,Missense_P151S,Missense_P157S,Missense_P151S exm273443 2 231077676 [A/G] NM_080424,NM_004509,NM_001185015,NM_004510 SP110,SP110,SP110,SP110 EXON Missense_A128V,Missense_A128V,Missense_A134V,Missense_A128V exm273444 2 231077683 [T/C] NM_080424,NM_004509,NM_001185015,NM_004510 SP110,SP110,SP110,SP110 EXON Missense_G126S,Missense_G126S,Missense_G132S,Missense_G126S exm273447 2 231077725 [A/G] NM_080424,NM_004509,NM_001185015,NM_004510 SP110,SP110,SP110,SP110 EXON Missense_W112R,Missense_W112R,Missense_W118R,Missense_W112R exm2265284 2 231083132 [A/G] NM_080424,NM_004509,NM_001185015,NM_004510 SP110,SP110,SP110,SP110 Silent,Silent,Silent,Silent exm-rs13397985 2 231091223 [T/G] NM_007237,NM_001005176 SP140,SP140 Silent,Silent exm273463 2 231101805 [A/G] NM_007237,NM_001005176 SP140,SP140 EXON Missense_A23T,Missense_A23T exm273480 2 231106154 [T/G] NM_007237 SP140 EXON Missense_V148L exm273488 2 231108447 [G/C] NM_007237 SP140 EXON Missense_E164D exm273495 2 231110649 [A/G] NM_007237 SP140 EXON Missense_T246A exm273500 2 231112782 [T/C] NM_007237 SP140 Silent exm-rs7423615 2 231116874 [T/C] NM_007237 SP140 Silent exm273511 2 231118109 [A/G] NM_007237 SP140 EXON Missense_S379N exm273512 2 231118121 [T/G] NM_007237 SP140 EXON Missense_G383V exm273513 2 231118131 [A/G] NM_007237 SP140 EXON Synonymous_E386E exm273519 2 231120239 [A/G] NM_007237 SP140 EXON Missense_R411H exm273520 2 231120241 [C/G] NM_007237 SP140 EXON Missense_G412R exm2275637 2 231120242 [A/G] NM_007237 SP140 EXON Missense_G412E exm273532 2 231134654 [T/C] NM_007237 SP140 EXON Missense_A477V exm273539 2 231149097 [T/C] NM_007237 SP140 EXON Missense_M512T exm273540 2 231149108 [A/G] NM_007237 SP140 EXON Missense_E516K exm273543 2 231150496 [T/G] NM_007237 SP140 EXON Missense_S532A exm273546 2 231152633 [T/C] NM_007237 SP140 EXON Missense_R558C exm273547 2 231152634 [A/G] NM_007237 SP140 EXON Missense_R558H exm273559 2 231157469 [A/G] NM_007237 SP140 EXON Missense_R645H exm273595 2 231193547 [A/G] NM_138402 SP140L Silent exm273601 2 231222543 [T/C] NM_138402 SP140L EXON Missense_V44A exm273609 2 231222675 [T/C] NM_138402 SP140L EXON Missense_M88T exm273620 2 231226371 [A/G] NM_138402 SP140L EXON Missense_E161G exm273625 2 231235641 [T/C] NM_138402 SP140L EXON Missense_P181L exm273628 2 231248261 [T/C] NM_138402 SP140L EXON Missense_T225M exm273630 2 231248279 [A/G] NM_138402 SP140L EXON Missense_N231S exm273634 2 231249978 [A/G] NM_138402 SP140L EXON Missense_K248R exm273635 2 231249984 [T/C] NM_138402 SP140L EXON Missense_A250V exm273647 2 231256873 [T/G] NM_138402 SP140L EXON Missense_G346C exm273648 2 231256879 [A/G] NM_138402 SP140L EXON Missense_A348T exm273657 2 231258150 [T/C] NM_138402 SP140L EXON Missense_P377S exm273662 2 231264872 [T/C] NM_138402 SP140L EXON Missense_R410W exm273694 2 231311570 [A/G] NM_001206701,NM_001206702,NM_001080391,NM_001206703,NM_003113,NM_001206704 SP100,SP100,SP100,SP100,SP100,SP100 EXON Missense_E159G,Missense_E159G,Missense_E159G,Missense_E134G,Missense_E159G,Missense_E124G exm273713 2 231326031 [A/G] NM_001206701,NM_001206702,NM_001080391,NM_001206703,NM_003113,NM_001206704 SP100,SP100,SP100,SP100,SP100,SP100 EXON Missense_R292Q,Missense_R292Q,Missense_R292Q,Missense_R267Q,Missense_R292Q,Missense_R257Q exm273715 2 231326081 [T/C] NM_001206701,NM_001206702,NM_001080391,NM_001206703,NM_003113,NM_001206704 SP100,SP100,SP100,SP100,SP100,SP100 EXON Missense_C309R,Missense_C309R,Missense_C309R,Missense_C284R,Missense_C309R,Missense_C274R exm273727 2 231328781 [A/G] NM_001206701,NM_001206702,NM_001080391,NM_001206703,NM_003113,NM_001206704 SP100,SP100,SP100,SP100,SP100,SP100 Silent,Silent,Silent,Silent,Silent,Silent exm273735 2 231331880 [T/C] NM_001206701,NM_001206702,NM_001080391,NM_001206703,NM_003113,NM_001206704 SP100,SP100,SP100,SP100,SP100,SP100 EXON Missense_A414V,Missense_A414V,Missense_A414V,Missense_A389V,Missense_A414V,Missense_A379V exm273744 2 231333763 [A/G] NM_001206701,NM_001206702,NM_001080391,NM_001206703,NM_003113,NM_001206704 SP100,SP100,SP100,SP100,SP100,SP100 EXON Missense_M433V,Missense_M433V,Missense_M433V,Missense_M405V,Missense_M433V,Missense_M398V exm273746 2 231333811 [T/C] NM_001206701,NM_001206702,NM_001080391,NM_001206703,NM_003113,NM_001206704 SP100,SP100,SP100,SP100,SP100,SP100 EXON Missense_R449C,Missense_R449C,Missense_R449C,Missense_R421C,Missense_R449C,Missense_R414C exm273754 2 231334774 [A/C] NM_001206701,NM_001206702,NM_001080391,NM_001206703,NM_003113,NM_001206704 SP100,SP100,SP100,SP100,SP100,SP100 EXON Missense_L464I,Missense_L464I,Missense_L464I,Missense_L436I,Missense_L464I,Missense_L429I exm273757 2 231334796 [A/C] NM_001206701,NM_001206702,NM_001080391,NM_001206703,NM_003113,NM_001206704 SP100,SP100,SP100,SP100,SP100,SP100 EXON Missense_S471Y,Missense_S471Y,Missense_S471Y,Missense_S443Y,Missense_S471Y,Missense_S436Y exm273761 2 231338156 [A/G] NM_001206701,NM_001080391,NM_003113 SP100,SP100,SP100 Silent,Silent,Silent exm273781 2 231372751 [T/C] NM_001206701,NM_001080391,NM_003113 SP100,SP100,SP100 EXON Missense_M686T,Silent,Silent exm273794 2 231379915 [T/C] NM_001080391,NM_003113 SP100,SP100 EXON Silent,Missense_F734L exm273803 2 231380121 [A/C] NM_001080391,NM_003113 SP100,SP100 EXON Silent,Missense_K802N exm273804 2 231380146 [A/G] NM_001080391,NM_003113 SP100,SP100 EXON Silent,Missense_A811T exm273829 2 231404024 [T/C] NM_001080391 SP100 EXON Missense_R713W exm273830 2 231404025 [A/G] NM_001080391 SP100 EXON Missense_R713Q exm273841 2 231406070 [A/G] NM_001080391 SP100 EXON Missense_A796T exm273846 2 231406680 [T/C] NM_001080391 SP100 EXON Missense_M826T exm-rs17275498 2 231420401 [A/C] exm2269232 2 231493060 [T/C] exm2261207 2 231532555 [A/G] exm273867 2 231663515 [G/C] NM_016289,NM_001130849,NM_001130850 CAB39,CAB39,CAB39 EXON Missense_A157G,Missense_A157G,Missense_A157G exm273881 2 231683334 [T/C] NM_016289,NM_001130849,NM_001130850 CAB39,CAB39,CAB39 EXON Missense_T314M,Missense_T314M,Missense_T314M exm273907 2 231729802 [T/C] NM_001012516,NM_001012514,NM_030926 ITM2C,ITM2C,ITM2C EXON Missense_A21V,Missense_A21V,Missense_A21V exm273914 2 231738163 [C/G] NM_001012516,NM_001012514,NM_030926 ITM2C,ITM2C,ITM2C EXON Missense_R51T,Silent,Missense_R51T exm273917 2 231738168 [A/G] NM_001012516,NM_001012514,NM_030926 ITM2C,ITM2C,ITM2C EXON Missense_G53S,Silent,Missense_G53S exm273933 2 231740407 [A/G] NM_001012516,NM_001012514,NM_030926 ITM2C,ITM2C,ITM2C EXON Missense_M112V,Missense_M65V,Missense_M112V exm2275276 2 231740522 [A/G] NM_001012516,NM_001012514,NM_030926 ITM2C,ITM2C,ITM2C EXON Missense_R150Q,Missense_R103Q,Missense_R150Q exm2006197 2 231741677 [A/G] NM_001012516,NM_001012514,NM_030926 ITM2C,ITM2C,ITM2C EXON Silent,Missense_V139M,Missense_V186M exm273958 2 231742251 [A/G] NM_001012516,NM_001012514,NM_030926 ITM2C,ITM2C,ITM2C EXON Missense_R196Q,Missense_R186Q,Missense_R233Q exm273994 2 231775034 [T/G] NM_005683 GPR55 EXON Missense_T215N exm273997 2 231775094 [A/C] NM_005683 GPR55 EXON Missense_G195V exm273999 2 231775177 [T/C] NM_005683 GPR55 EXON Missense_M167I exm274004 2 231775307 [T/C] NM_005683 GPR55 EXON Missense_R124H exm274006 2 231775364 [A/G] NM_005683 GPR55 EXON Missense_M105T exm274007 2 231775371 [T/C] NM_005683 GPR55 EXON Missense_V103I exm274011 2 231775422 [T/C] NM_005683 GPR55 EXON Missense_V86I exm2237248 2 231861183 [T/C] NM_139073 SPATA3 EXON Missense_R79C exm274026 2 231861210 [A/G] NM_139073 SPATA3 EXON Missense_D88N exm274027 2 231861219 [A/G] NM_139073 SPATA3 EXON Missense_V91M exm274037 2 231865144 [C/G] NM_139073 SPATA3 EXON Missense_C122S exm274038 2 231865150 [A/G] NM_139073 SPATA3 EXON Missense_R124H exm2269233 2 231877207 [T/C] exm274073 2 231931799 [A/G] NM_002807,NR_034059,NM_001191037 PSMD1,PSMD1,PSMD1 EXON Missense_V162I,Silent,Missense_V162I exm274075 2 231931806 [A/C] NM_002807,NR_034059,NM_001191037 PSMD1,PSMD1,PSMD1 EXON Missense_E164A,Silent,Missense_E164A exm274080 2 231934872 [A/G] NM_002807,NR_034059,NM_001191037 PSMD1,PSMD1,PSMD1 EXON Missense_N215S,Silent,Missense_N215S exm274083 2 231937054 [A/G] NM_002807,NR_034059,NM_001191037 PSMD1,PSMD1,PSMD1 EXON Missense_R269Q,Silent,Missense_R269Q exm274092 2 231941856 [A/G] NM_002807,NR_034059,NM_001191037 PSMD1,PSMD1,PSMD1 EXON Missense_M351V,Silent,Missense_M351V exm2006327 2 231947651 [C/G] NM_002807,NR_034059,NM_001191037 PSMD1,PSMD1,PSMD1 EXON Missense_R490G,Silent,Missense_R490G exm274107 2 231948329 [A/G] NM_002807,NR_034059,NM_001191037 PSMD1,PSMD1,PSMD1 EXON Missense_N525S,Silent,Missense_N525S exm274111 2 231948431 [A/G] NM_002807,NR_034059,NM_001191037 PSMD1,PSMD1,PSMD1 EXON Missense_R559K,Silent,Missense_R559K exm274112 2 231948470 [A/G] NM_002807,NR_034059,NM_001191037 PSMD1,PSMD1,PSMD1 EXON Missense_R572H,Silent,Missense_R572H exm274125 2 231973416 [T/C] NM_002807,NR_034059,NM_001191037,NM_000867 PSMD1,PSMD1,PSMD1,HTR2B EXON Silent,Silent,Silent,Missense_M421V exm274126 2 231973425 [A/G] NM_002807,NR_034059,NM_001191037,NM_000867 PSMD1,PSMD1,PSMD1,HTR2B EXON Silent,Silent,Silent,Missense_R418W exm274127 2 231973446 [A/G] NM_002807,NR_034059,NM_001191037,NM_000867 PSMD1,PSMD1,PSMD1,HTR2B EXON Silent,Silent,Silent,Missense_R411C exm274128 2 231973478 [T/C] NM_002807,NR_034059,NM_001191037,NM_000867 PSMD1,PSMD1,PSMD1,HTR2B EXON Silent,Silent,Silent,Missense_R400Q exm274130 2 231973515 [A/G] NM_002807,NR_034059,NM_001191037,NM_000867 PSMD1,PSMD1,PSMD1,HTR2B EXON Silent,Silent,Silent,Missense_R388W exm2273872 2 231973705 [G/C] NM_002807,NR_034059,NM_001191037,NM_000867 PSMD1,PSMD1,PSMD1,HTR2B EXON Silent,Silent,Silent,Missense_K324N exm274142 2 231973838 [T/G] NM_002807,NR_034059,NM_001191037,NM_000867 PSMD1,PSMD1,PSMD1,HTR2B EXON Silent,Silent,Silent,Missense_K280T exm274152 2 231974055 [A/C] NM_002807,NR_034059,NM_001191037,NM_000867 PSMD1,PSMD1,PSMD1,HTR2B EXON Silent,Silent,Silent,Missense_V208L exm274156 2 231978443 [A/C] NM_002807,NR_034059,NM_001191037,NM_000867 PSMD1,PSMD1,PSMD1,HTR2B EXON Silent,Silent,Silent,Missense_G185C exm274158 2 231978479 [A/G] NM_002807,NR_034059,NM_001191037,NM_000867 PSMD1,PSMD1,PSMD1,HTR2B EXON Silent,Silent,Silent,Missense_F173L exm274169 2 231988352 [T/C] NM_002807,NR_034059,NM_001191037,NM_000867 PSMD1,PSMD1,PSMD1,HTR2B EXON Silent,Silent,Silent,Missense_M43V exm274170 2 231988353 [T/G] NM_002807,NR_034059,NM_001191037,NM_000867 PSMD1,PSMD1,PSMD1,HTR2B EXON Silent,Silent,Silent,Missense_E42D exm274172 2 231988388 [A/G] NM_002807,NR_034059,NM_001191037,NM_000867 PSMD1,PSMD1,PSMD1,HTR2B EXON Silent,Silent,Silent,Missense_W31R exm274173 2 231988421 [A/G] NM_002807,NR_034059,NM_001191037,NM_000867 PSMD1,PSMD1,PSMD1,HTR2B EXON Silent,Silent,Silent,Nonsense_Q20X exm274175 2 231988465 [T/G] NM_002807,NR_034059,NM_001191037,NM_000867 PSMD1,PSMD1,PSMD1,HTR2B EXON Silent,Silent,Silent,Missense_Y5S exm274178 2 232003470 [A/G] NM_002807,NR_034059,NM_001191037 PSMD1,PSMD1,PSMD1 EXON Missense_S635N,Silent,Missense_S635N exm274187 2 232011040 [C/G] NM_002807,NR_034059,NM_001191037 PSMD1,PSMD1,PSMD1 EXON Missense_M695I,Silent,Missense_M695I exm274198 2 232028424 [A/G] NM_002807,NR_034059,NM_001191037 PSMD1,PSMD1,PSMD1 EXON Missense_E822K,Silent,Silent exm2006449 2 232028430 [A/G] NM_002807,NR_034059,NM_001191037 PSMD1,PSMD1,PSMD1 EXON Missense_E824K,Silent,Silent exm274222 2 232035286 [A/G] NM_002807,NR_034059,NM_001191037 PSMD1,PSMD1,PSMD1 EXON Missense_I908V,Silent,Missense_I877V exm274225 2 232070961 [A/G] NM_025139,NM_001271466 ARMC9,ARMC9 EXON Missense_I4V,Missense_I4V exm274227 2 232070970 [T/C] NM_025139,NM_001271466 ARMC9,ARMC9 EXON Missense_H7Y,Missense_H7Y exm274238 2 232081369 [A/G] NM_025139,NM_001271466 ARMC9,ARMC9 EXON Missense_E123K,Missense_E123K exm274247 2 232087444 [T/G] NM_025139,NM_001271466 ARMC9,ARMC9 EXON Missense_S170A,Missense_S170A exm274257 2 232099940 [T/C] NM_025139,NM_001271466 ARMC9,ARMC9 EXON Missense_I209T,Missense_I209T exm274258 2 232099950 [C/G] NM_025139,NM_001271466 ARMC9,ARMC9 EXON Missense_Q212H,Missense_Q212H exm274260 2 232099979 [A/G] NM_025139,NM_001271466 ARMC9,ARMC9 EXON Missense_R222H,Missense_R222H exm274261 2 232100016 [C/G] NM_025139,NM_001271466 ARMC9,ARMC9 EXON Missense_I234M,Missense_I234M exm274263 2 232100039 [T/C] NM_025139,NM_001271466 ARMC9,ARMC9 EXON Missense_I242T,Missense_I242T exm274289 2 232135728 [A/G] NM_025139,NM_001271466 ARMC9,ARMC9 EXON Missense_D385N,Missense_D385N exm274292 2 232135771 [T/C] NM_025139,NM_001271466 ARMC9,ARMC9 EXON Missense_A399V,Missense_A399V exm274306 2 232141438 [T/C] NM_025139,NM_001271466 ARMC9,ARMC9 EXON Missense_T475M,Missense_T475M exm274310 2 232143110 [T/C] NM_025139,NM_001271466 ARMC9,ARMC9 EXON Missense_A497V,Missense_A497V exm274321 2 232156084 [T/C] NM_025139,NM_001271466 ARMC9,ARMC9 EXON Missense_R549C,Missense_R549C exm274329 2 232156156 [A/G] NM_025139,NM_001271466 ARMC9,ARMC9 EXON Missense_E573K,Missense_E573K exm274338 2 232196529 [A/G] NM_025139,NM_001271466 ARMC9,ARMC9 EXON Missense_D600N,Missense_D600N exm2261208 2 232198327 [A/G] NM_025139,NM_001271466 ARMC9,ARMC9 Silent,Silent exm274345 2 232209689 [G/C] NM_025139,NM_001271466 ARMC9,ARMC9 EXON Missense_I627M,Missense_I627M exm274347 2 232209700 [T/C] NM_025139,NM_001271466 ARMC9,ARMC9 EXON Missense_T631M,Missense_T631M exm274348 2 232209714 [T/C] NM_025139,NM_001271466 ARMC9,ARMC9 EXON Missense_R636W,Missense_R636W exm274351 2 232209772 [T/C] NM_025139,NM_001271466 ARMC9,ARMC9 EXON Missense_T655I,Missense_T655I exm274352 2 232209777 [A/G] NM_025139,NM_001271466 ARMC9,ARMC9 EXON Missense_G657S,Missense_G657S exm274354 2 232209787 [A/G] NM_025139,NM_001271466 ARMC9,ARMC9 EXON Missense_R660K,Missense_R660K exm274361 2 232262494 [A/G] NM_145236 B3GNT7 EXON Missense_V22M exm274392 2 232263127 [A/G] NM_145236 B3GNT7 EXON Missense_V233I exm274403 2 232263373 [T/C] NM_145236 B3GNT7 EXON Missense_H315Y exm274407 2 232263500 [A/G] NM_145236 B3GNT7 EXON Missense_N357S exm274411 2 232263617 [A/G] NM_145236 B3GNT7 EXON Missense_R396H exm274459 2 232323756 [T/C] NM_005381 NCL EXON Missense_N374S exm274468 2 232324980 [T/C] NM_005381 NCL EXON Missense_N308S exm274495 2 232325512 [T/C] NM_005381 NCL EXON Missense_V227M exm274498 2 232325565 [T/G] NM_005381 NCL EXON Missense_E209A exm274501 2 232326263 [T/C] NM_005381 NCL EXON Missense_D201N exm274503 2 232326279 [A/C] NM_005381 NCL EXON Missense_D195E exm274508 2 232326326 [G/C] NM_005381 NCL EXON Missense_A180P exm274519 2 232326517 [T/G] NM_005381 NCL EXON Missense_K116T exm274527 2 232326676 [T/C] NM_005381 NCL EXON Missense_K63R exm2269234 2 232344556 [T/C] exm-rs4973417 2 232349636 [T/G] exm2006691 2 232389765 [T/C] NM_006056 NMUR1 EXON Missense_D424N exm274561 2 232389779 [A/G] NM_006056 NMUR1 EXON Missense_A419V exm274565 2 232389881 [T/C] NM_006056 NMUR1 EXON Missense_S385N exm274567 2 232389915 [T/C] NM_006056 NMUR1 EXON Missense_G374R exm2006693 2 232389975 [A/C] NM_006056 NMUR1 EXON Missense_V354L exm274581 2 232390092 [T/C] NM_006056 NMUR1 EXON Missense_A315T exm274587 2 232392957 [A/G] NM_006056 NMUR1 EXON Missense_R259W exm274596 2 232393124 [T/C] NM_006056 NMUR1 EXON Missense_R203Q exm274602 2 232393197 [A/G] NM_006056 NMUR1 EXON Missense_R179C exm274603 2 232393202 [T/C] NM_006056 NMUR1 EXON Missense_H177R exm274606 2 232393256 [T/C] NM_006056 NMUR1 EXON Missense_R159H exm274610 2 232393323 [A/G] NM_006056 NMUR1 EXON Missense_R137C exm2006703 2 232393328 [T/G] NM_006056 NMUR1 EXON Missense_Y135S exm274624 2 232393458 [A/G] NM_006056 NMUR1 EXON Missense_R92C exm274625 2 232393473 [A/G] NM_006056 NMUR1 EXON Missense_R87C exm274633 2 232393667 [T/C] NM_006056 NMUR1 EXON Missense_N22S exm274640 2 232457693 [G/C] NM_152614 C2orf57 EXON Missense_V11L exm274644 2 232457762 [A/G] NM_152614 C2orf57 EXON Missense_V34I exm274649 2 232457829 [T/C] NM_152614 C2orf57 EXON Missense_T56M exm274654 2 232457898 [A/G] NM_152614 C2orf57 EXON Missense_Q79R exm274656 2 232457921 [T/C] NM_152614 C2orf57 EXON Missense_P87S exm274663 2 232458027 [T/C] NM_152614 C2orf57 EXON Missense_V122A exm274668 2 232458164 [A/G] NM_152614 C2orf57 EXON Missense_E168K exm274675 2 232458321 [A/G] NM_152614 C2orf57 EXON Missense_G220E exm274677 2 232458377 [A/C] NM_152614 C2orf57 EXON Missense_P239T exm274679 2 232458443 [T/C] NM_152614 C2orf57 EXON Missense_S261P exm274682 2 232458482 [T/C] NM_152614 C2orf57 EXON Missense_R274C exm274683 2 232458483 [A/G] NM_152614 C2orf57 EXON Missense_R274H exm274684 2 232458554 [A/G] NM_152614 C2orf57 EXON Missense_E298K exm274686 2 232458606 [A/G] NM_152614 C2orf57 EXON Missense_S315N exm274690 2 232458648 [A/G] NM_152614 C2orf57 EXON Missense_R329H exm274699 2 232458725 [T/C] NM_152614 C2orf57 EXON Missense_R355C exm274703 2 232458767 [A/G] NM_152614 C2orf57 EXON Missense_V369M exm274706 2 232458789 [T/C] NM_152614 C2orf57 EXON Missense_M376T exm274707 2 232458816 [T/C] NM_152614 C2orf57 EXON Missense_P385L exm274708 2 232458818 [T/C] NM_152614 C2orf57 EXON Missense_R386C exm274728 2 232576097 [A/G] NM_001099285,NM_002823 PTMA,PTMA EXON Missense_N29D,Missense_N29D exm274748 2 232577526 [A/G] NM_001099285,NM_002823 PTMA,PTMA EXON Missense_D101N,Missense_D100N exm274758 2 232597706 [T/C] NM_002601 PDE6D EXON Missense_D137N exm274759 2 232597709 [T/C] NM_002601 PDE6D EXON Missense_D136N exm274803 2 232663646 [A/G] NM_022730 COPS7B EXON Missense_N203S exm2006911 2 232663649 [A/G] NM_022730 COPS7B EXON Missense_R204Q exm274827 2 232790908 [A/G] NM_024409 NPPC EXON Missense_L18F exm-rs749052 2 232796610 [T/C] exm-rs2580816 2 232797966 [T/C] exm274832 2 232879671 [T/C] NR_046476,NR_046477,NM_001257282,NM_152383,NM_001257281 DIS3L2,DIS3L2,DIS3L2,DIS3L2,DIS3L2 EXON Silent,Silent,Missense_P12S,Missense_P12S,Missense_P12S exm2007015 2 232880235 [C/G] NR_046476,NR_046477,NM_001257282,NM_152383,NM_001257281 DIS3L2,DIS3L2,DIS3L2,DIS3L2,DIS3L2 EXON Silent,Silent,Missense_V22L,Missense_V22L,Missense_V22L exm274841 2 232889039 [T/C] NR_046476,NR_046477,NM_001257282,NM_152383,NM_001257281 DIS3L2,DIS3L2,DIS3L2,DIS3L2,DIS3L2 EXON Silent,Silent,Missense_P88L,Missense_P88L,Missense_P88L exm274844 2 232894725 [T/G] NR_046476,NR_046477,NM_001257282,NM_152383,NM_001257281 DIS3L2,DIS3L2,DIS3L2,DIS3L2,DIS3L2 EXON Silent,Silent,Missense_A101S,Missense_A101S,Missense_A101S exm2265285 2 232944860 [A/G] NR_046476,NR_046477,NM_001257282,NM_152383,NM_001257281 DIS3L2,DIS3L2,DIS3L2,DIS3L2,DIS3L2 Silent,Silent,Silent,Silent,Silent exm274848 2 232952240 [A/G] NR_046476,NR_046477,NM_001257282,NM_152383,NM_001257281 DIS3L2,DIS3L2,DIS3L2,DIS3L2,DIS3L2 EXON Silent,Silent,Missense_Y137C,Missense_Y137C,Missense_Y137C exm-rs11677466 2 232982257 [A/T] NR_046476,NR_046477,NM_001257282,NM_152383,NM_001257281 DIS3L2,DIS3L2,DIS3L2,DIS3L2,DIS3L2 Silent,Silent,Silent,Silent,Silent exm274875 2 233028237 [A/G] NR_046476,NR_046477,NM_152383,NM_001257281 DIS3L2,DIS3L2,DIS3L2,DIS3L2 EXON Silent,Silent,Missense_Y340C,Missense_Y340C exm-rs7571816 2 233077064 [A/G] NR_046476,NR_046477,NM_152383,NM_001257281 DIS3L2,DIS3L2,DIS3L2,DIS3L2 Silent,Silent,Silent,Silent exm2237257 2 233103323 [A/G] NR_046476,NR_046477,NM_152383,NM_001257281 DIS3L2,DIS3L2,DIS3L2,DIS3L2 EXON Silent,Silent,Missense_E429K,Missense_E429K exm274893 2 233127938 [G/C] NR_046476,NR_046477,NM_152383,NM_001257281 DIS3L2,DIS3L2,DIS3L2,DIS3L2 EXON Silent,Silent,Missense_R483G,Missense_R483G exm274894 2 233127939 [A/G] NR_046476,NR_046477,NM_152383,NM_001257281 DIS3L2,DIS3L2,DIS3L2,DIS3L2 EXON Silent,Silent,Missense_R483Q,Missense_R483Q exm274904 2 233128061 [A/G] NR_046476,NR_046477,NM_152383,NM_001257281 DIS3L2,DIS3L2,DIS3L2,DIS3L2 EXON Silent,Silent,Missense_E524K,Missense_E524K exm-rs6717918 2 233155110 [T/C] NR_046476,NR_046477,NM_152383,NM_001257281 DIS3L2,DIS3L2,DIS3L2,DIS3L2 Silent,Silent,Silent,Silent exm274911 2 233164817 [A/G] NR_046476,NR_046477,NM_152383,NM_001257281 DIS3L2,DIS3L2,DIS3L2,DIS3L2 EXON Silent,Silent,Missense_R576H,Silent exm2265397 2 233172923 [A/G] NR_046476,NR_046477,NM_152383,NM_001257281 DIS3L2,DIS3L2,DIS3L2,DIS3L2 Silent,Silent,Silent,Silent exm274930 2 233198664 [A/G] NR_046476,NR_046477,NM_152383,NM_001257281 DIS3L2,DIS3L2,DIS3L2,DIS3L2 EXON Silent,Silent,Missense_V709I,Silent exm274977 2 233243586 [T/C] NM_001632 ALPP EXON Missense_P25L exm274995 2 233243945 [A/C] NM_001632 ALPP EXON Missense_L77I exm274998 2 233243981 [T/A] NM_001632 ALPP EXON Missense_I89L exm275000 2 233244223 [A/C] NM_001632 ALPP EXON Missense_T104P exm275089 2 233246221 [T/C] NM_001632 ALPP EXON Missense_R442W exm275126 2 233272029 [T/C] NM_031313 ALPPL2 EXON Missense_I73T exm275127 2 233272091 [T/C] NM_031313 ALPPL2 EXON Missense_P94S exm275134 2 233272305 [T/C] NM_031313 ALPPL2 EXON Missense_T101I exm275135 2 233272309 [C/G] NM_031313 ALPPL2 EXON Nonsense_Y102X exm275149 2 233272560 [A/T] NM_031313 ALPPL2 EXON Missense_S161T exm275156 2 233272608 [A/G] NM_031313 ALPPL2 EXON Missense_G177S exm275221 2 233320929 [T/C] NM_001631 ALPI EXON Missense_L7P exm275222 2 233320952 [T/C] NM_001631 ALPI EXON Nonsense_Q15X exm275226 2 233321089 [T/G] NM_001631 ALPI EXON Missense_R33L exm275230 2 233321305 [T/C] NM_001631 ALPI EXON Missense_T67M exm275234 2 233321379 [T/C] NM_001631 ALPI EXON Missense_R92C exm275235 2 233321394 [A/G] NM_001631 ALPI EXON Missense_A97T exm275249 2 233321769 [A/G] NM_001631 ALPI EXON Missense_R154Q exm2007240 2 233321916 [A/G] NM_001631 ALPI EXON Missense_T178A exm275258 2 233321982 [A/G] NM_001631 ALPI EXON Missense_E200K exm275262 2 233322004 [T/C] NM_001631 ALPI EXON Missense_T207I exm275285 2 233322928 [T/C] NM_001631 ALPI EXON Synonymous_G331G exm275292 2 233323014 [T/C] NM_001631 ALPI EXON Missense_A360V exm275298 2 233323100 [T/C] NM_001631 ALPI EXON Nonsense_R389X exm275299 2 233323342 [A/G] NM_001631 ALPI EXON Missense_G395E exm275300 2 233323343 [A/G] NM_001631 ALPI EXON Synonymous_G395G exm275305 2 233323452 [A/G] NM_001631 ALPI EXON Missense_E432K exm275324 2 233344871 [T/C] NM_004826 ECEL1 EXON Missense_V774M exm275325 2 233344880 [T/C] NM_004826 ECEL1 EXON Missense_K771E exm275327 2 233344925 [A/G] NM_004826 ECEL1 EXON Missense_R756W exm275339 2 233345474 [A/C] NM_004826 ECEL1 EXON Missense_R702L exm275344 2 233345496 [T/C] NM_004826 ECEL1 EXON Missense_G695S exm2276809 2 233345801 [A/G] NM_004826 ECEL1 EXON Synonymous_H685H exm275346 2 233345821 [T/C] NM_004826 ECEL1 EXON Missense_G679S exm2255112 2 233345861 [A/G] NM_004826 ECEL1 EXON Synonymous_N665N exm275353 2 233346268 [T/C] NM_004826 ECEL1 EXON Missense_K646R exm275362 2 233346337 [C/G] NM_004826 ECEL1 EXON Missense_G623A exm275363 2 233346498 [T/C] NM_004826 ECEL1 EXON Missense_D620N exm275375 2 233347298 [A/G] NM_004826 ECEL1 EXON Missense_A569V exm275392 2 233348133 [T/C] NM_004826 ECEL1 EXON Missense_R500Q exm275399 2 233348182 [A/G] NM_004826 ECEL1 EXON Missense_R484C exm275410 2 233348851 [C/G] NM_004826 ECEL1 EXON Missense_E423Q exm275415 2 233349197 [T/C] NM_004826 ECEL1 EXON Missense_R390H exm275416 2 233349220 [T/C] NM_004826 ECEL1 EXON Missense_M382I exm275424 2 233349583 [T/G] NM_004826 ECEL1 EXON Missense_D329E exm275425 2 233349588 [A/G] NM_004826 ECEL1 EXON Missense_H328Y exm275463 2 233385396 [A/G] NM_001195129 PRSS56 EXON Missense_A30T exm275474 2 233390199 [C/G] NM_001195129 PRSS56 EXON Missense_P599A exm275482 2 233391303 [C/G] NR_046334,NR_046333,NM_001256657,NM_000751 CHRND,CHRND,CHRND,CHRND EXON Silent,Silent,Missense_N39K,Missense_N39K exm275490 2 233392155 [T/C] NR_046334,NR_046333,NM_001256657,NM_000751 CHRND,CHRND,CHRND,CHRND EXON Silent,Silent,Silent,Synonymous_H81H exm2007332 2 233392983 [A/C] NR_046334,NR_046333,NM_001256657,NM_000751 CHRND,CHRND,CHRND,CHRND EXON Silent,Silent,Missense_D70E,Missense_D85E exm275493 2 233393033 [A/G] NR_046334,NR_046333,NM_001256657,NM_000751 CHRND,CHRND,CHRND,CHRND EXON Silent,Silent,Missense_R87H,Missense_R102H exm275501 2 233393272 [A/G] NR_046334,NR_046333,NM_001256657,NM_000751 CHRND,CHRND,CHRND,CHRND EXON Silent,Silent,Missense_V124M,Missense_V139M exm275509 2 233394726 [T/C] NR_046334,NR_046333,NM_001256657,NM_000751 CHRND,CHRND,CHRND,CHRND EXON Silent,Silent,Missense_R218C,Missense_R233C exm275510 2 233394727 [A/G] NR_046334,NR_046333,NM_001256657,NM_000751 CHRND,CHRND,CHRND,CHRND EXON Silent,Silent,Missense_R218H,Missense_R233H exm275512 2 233394757 [A/G] NR_046334,NR_046333,NM_001256657,NM_000751 CHRND,CHRND,CHRND,CHRND EXON Silent,Silent,Missense_R228H,Missense_R243H exm275513 2 233394834 [T/C] NR_046334,NR_046333,NM_001256657,NM_000751 CHRND,CHRND,CHRND,CHRND EXON Silent,Silent,Missense_Y254H,Missense_Y269H exm275515 2 233394846 [A/G] NR_046334,NR_046333,NM_001256657,NM_000751 CHRND,CHRND,CHRND,CHRND EXON Silent,Silent,Missense_D258N,Missense_D273N exm275524 2 233396134 [A/G] NR_046334,NR_046333,NM_001256657,NM_000751 CHRND,CHRND,CHRND,CHRND EXON Silent,Silent,Missense_R283H,Missense_R298H exm275527 2 233396160 [T/C] NR_046334,NR_046333,NM_001256657,NM_000751 CHRND,CHRND,CHRND,CHRND EXON Silent,Silent,Missense_P292S,Missense_P307S exm275529 2 233396265 [A/G] NR_046334,NR_046333,NM_001256657,NM_000751 CHRND,CHRND,CHRND,CHRND EXON Silent,Silent,Missense_G301S,Missense_G316S exm275535 2 233398659 [T/C] NR_046334,NR_046333,NM_001256657,NM_000751 CHRND,CHRND,CHRND,CHRND EXON Silent,Silent,Missense_P341S,Missense_P356S exm275536 2 233398698 [T/C] NR_046334,NR_046333,NM_001256657,NM_000751 CHRND,CHRND,CHRND,CHRND EXON Silent,Silent,Missense_P354S,Missense_P369S exm275545 2 233398845 [T/C] NR_046334,NR_046333,NM_001256657,NM_000751 CHRND,CHRND,CHRND,CHRND EXON Silent,Silent,Missense_R403C,Missense_R418C exm275553 2 233399048 [A/G] NR_046334,NR_046333,NM_001256657,NM_000751 CHRND,CHRND,CHRND,CHRND EXON Silent,Silent,Missense_N441S,Missense_N456S exm275556 2 233399868 [A/G] NR_046334,NR_046333,NM_001256657,NM_000751 CHRND,CHRND,CHRND,CHRND EXON Silent,Silent,Missense_R452H,Missense_R467H exm275574 2 233404728 [T/C] NM_005199 CHRNG EXON Missense_R28C exm275575 2 233404771 [A/G] NM_005199 CHRNG EXON Missense_R42Q exm2007369 2 233404776 [A/G] NM_005199 CHRNG EXON Missense_A44T exm275592 2 233405397 [A/G] NM_005199 CHRNG EXON Missense_R109Q exm275601 2 233406153 [A/G] NM_005199 CHRNG EXON Nonsense_W140X exm275607 2 233406178 [A/G] NM_005199 CHRNG EXON Missense_A149T exm2255115 2 233407647 [A/G] NM_005199 CHRNG EXON Synonymous_A220A exm275628 2 233407701 [T/G] NM_005199 CHRNG EXON Missense_Q238H exm275630 2 233407724 [A/T] NM_005199 CHRNG EXON Missense_I246N exm275632 2 233407741 [T/C] NM_005199 CHRNG EXON Missense_C252R exm275634 2 233407762 [A/G] NM_005199 CHRNG EXON Missense_A259T exm275643 2 233408302 [A/T] NM_005199 CHRNG EXON Missense_T310S exm275646 2 233408335 [A/G] NM_005199 CHRNG EXON Missense_V321M exm275655 2 233409116 [A/G] NM_005199 CHRNG EXON Missense_V359I exm275660 2 233409141 [T/C] NM_005199 CHRNG EXON Missense_V367A exm2007408 2 233409156 [T/C] NM_005199 CHRNG EXON Missense_S372F exm2007409 2 233409159 [A/G] NM_005199 CHRNG EXON Missense_R373Q exm275669 2 233409491 [T/C] NM_005199 CHRNG EXON Missense_P420L exm275677 2 233409610 [A/G] NM_005199 CHRNG EXON Missense_N460D exm275678 2 233410253 [A/G] NM_005199 CHRNG EXON Missense_G461R exm275683 2 233410388 [T/C] NM_005199 CHRNG EXON Missense_P506S exm2007426 2 233422728 [T/A] NM_004846 EIF4E2 EXON Synonymous_S90S exm-rs1656402 2 233426526 [T/C] NM_004846 EIF4E2 Silent exm275754 2 233433710 [T/C] NM_004846 EIF4E2 EXON Missense_R241W exm2269235 2 233508677 [T/C] NM_001243252,NM_025202 EFHD1,EFHD1 Silent,Silent exm275778 2 233527526 [A/G] NM_001243252,NM_025202 EFHD1,EFHD1 EXON Missense_R10Q,Missense_R106Q exm275786 2 233537043 [A/G] NM_001243252,NM_025202 EFHD1,EFHD1 EXON Missense_A63T,Missense_A159T exm275787 2 233537044 [T/C] NM_001243252,NM_025202 EFHD1,EFHD1 EXON Missense_A63V,Missense_A159V exm275791 2 233537094 [T/G] NM_001243252,NM_025202 EFHD1,EFHD1 EXON Missense_S80A,Missense_S176A exm275793 2 233537125 [A/G] NM_001243252,NM_025202 EFHD1,EFHD1 EXON Missense_K90R,Missense_K186R exm275798 2 233546385 [T/C] NM_001243252,NM_025202 EFHD1,EFHD1 EXON Missense_R130C,Missense_R226C exm275808 2 233612427 [T/G] NM_001103148,NM_001103146,NM_001103147,NM_015575 GIGYF2,GIGYF2,GIGYF2,GIGYF2 EXON Missense_M48I,Missense_M48I,Missense_M48I,Missense_M48I exm275809 2 233612450 [A/G] NM_001103148,NM_001103146,NM_001103147,NM_015575 GIGYF2,GIGYF2,GIGYF2,GIGYF2 EXON Missense_N56S,Missense_N56S,Missense_N56S,Missense_N56S exm2237279 2 233625213 [T/G] NM_001103148,NM_001103146,NM_001103147,NM_015575 GIGYF2,GIGYF2,GIGYF2,GIGYF2 EXON Missense_F135V,Missense_F135V,Missense_F135V,Missense_F135V exm275848 2 233633295 [T/C] NM_001103148,NM_001103146,NM_001103147,NM_015575,NM_002242,NM_001172416,NM_001172417 GIGYF2,GIGYF2,GIGYF2,GIGYF2,KCNJ13,KCNJ13,KCNJ13 EXON Silent,Silent,Silent,Silent,Missense_S230N,Silent,Missense_S150N exm275849 2 233633332 [A/G] NM_001103148,NM_001103146,NM_001103147,NM_015575,NM_002242,NM_001172416,NM_001172417 GIGYF2,GIGYF2,GIGYF2,GIGYF2,KCNJ13,KCNJ13,KCNJ13 EXON Silent,Silent,Silent,Silent,Missense_Y218H,Silent,Missense_Y138H exm275851 2 233633377 [A/G] NM_001103148,NM_001103146,NM_001103147,NM_015575,NM_002242,NM_001172416,NM_001172417 GIGYF2,GIGYF2,GIGYF2,GIGYF2,KCNJ13,KCNJ13,KCNJ13 EXON Silent,Silent,Silent,Silent,Missense_R203W,Silent,Missense_R123W exm275853 2 233633460 [A/G] NM_001103148,NM_001103146,NM_001103147,NM_015575,NM_002242,NM_001172416,NM_001172417 GIGYF2,GIGYF2,GIGYF2,GIGYF2,KCNJ13,KCNJ13,KCNJ13 EXON Silent,Silent,Silent,Silent,Missense_T175I,Silent,Missense_T95I exm275883 2 233655834 [T/A] NM_001103148,NM_001103146,NM_001103147,NM_015575 GIGYF2,GIGYF2,GIGYF2,GIGYF2 EXON Missense_D343E,Missense_D349E,Missense_D371E,Missense_D349E exm275892 2 233656142 [T/C] NM_001103148,NM_001103146,NM_001103147,NM_015575 GIGYF2,GIGYF2,GIGYF2,GIGYF2 EXON Missense_P417L,Missense_P423L,Missense_P444L,Missense_P423L exm275897 2 233659488 [T/C] NM_001103148,NM_001103146,NM_001103147,NM_015575 GIGYF2,GIGYF2,GIGYF2,GIGYF2 EXON Missense_S432L,Missense_S438L,Missense_S459L,Missense_S438L exm275901 2 233659545 [A/C] NM_001103148,NM_001103146,NM_001103147,NM_015575 GIGYF2,GIGYF2,GIGYF2,GIGYF2 EXON Missense_N451T,Missense_N457T,Missense_N478T,Missense_N457T exm275904 2 233659641 [A/G] NM_001103148,NM_001103146,NM_001103147,NM_015575 GIGYF2,GIGYF2,GIGYF2,GIGYF2 EXON Missense_K483R,Missense_K489R,Missense_K510R,Missense_K489R exm275916 2 233675965 [T/C] NM_001103148,NM_001103146,NM_001103147,NM_015575 GIGYF2,GIGYF2,GIGYF2,GIGYF2 EXON Missense_A631V,Missense_A637V,Missense_A658V,Missense_A637V exm2255118 2 233699415 [A/G] NM_001103148,NM_001103146,NM_001103147,NM_015575 GIGYF2,GIGYF2,GIGYF2,GIGYF2 Silent,Silent,Silent,Silent exm275944 2 233704674 [A/G] NM_001103148,NM_001103146,NM_001103147,NM_015575 GIGYF2,GIGYF2,GIGYF2,GIGYF2 EXON Missense_R955Q,Missense_R961Q,Missense_R982Q,Missense_R961Q exm275946 2 233708777 [T/A] NM_001103148,NM_001103146,NM_001103147,NM_015575 GIGYF2,GIGYF2,GIGYF2,GIGYF2 EXON Missense_L965M,Missense_L971M,Missense_L992M,Missense_L971M exm275953 2 233709083 [C/G] NM_001103148,NM_001103146,NM_001103147,NM_015575 GIGYF2,GIGYF2,GIGYF2,GIGYF2 EXON Missense_S1029C,Missense_S1035C,Missense_S1056C,Missense_S1035C exm275961 2 233709264 [A/T] NM_001103148,NM_001103146,NM_001103147,NM_015575 GIGYF2,GIGYF2,GIGYF2,GIGYF2 EXON Missense_N1089K,Missense_N1095K,Missense_N1116K,Missense_N1095K exm275964 2 233710483 [T/A] NM_001103148,NM_001103146,NM_001103147,NM_015575 GIGYF2,GIGYF2,GIGYF2,GIGYF2 EXON Missense_E1110V,Missense_E1116V,Missense_E1137V,Missense_E1116V exm2007520 2 233712060 [A/C] NM_001103148,NM_001103146,NM_001103147,NM_015575 GIGYF2,GIGYF2,GIGYF2,GIGYF2 EXON Missense_P1149T,Missense_P1155T,Missense_P1176T,Missense_P1155T exm275978 2 233712109 [A/G] NM_001103148,NM_001103146,NM_001103147,NM_015575 GIGYF2,GIGYF2,GIGYF2,GIGYF2 EXON Missense_H1165R,Missense_H1171R,Missense_H1192R,Missense_H1171R exm275979 2 233712178 [A/G] NM_001103148,NM_001103146,NM_001103147,NM_015575 GIGYF2,GIGYF2,GIGYF2,GIGYF2 EXON Missense_R1188H,Missense_R1194H,Missense_R1215H,Missense_R1194H exm275983 2 233712208 [A/G] NM_001103148,NM_001103146,NM_001103147,NM_015575 GIGYF2,GIGYF2,GIGYF2,GIGYF2 EXON Missense_R1198H,Missense_R1204H,Missense_R1225H,Missense_R1204H exm276001 2 233712274 [A/C] NM_001103148,NM_001103146,NM_001103147,NM_015575 GIGYF2,GIGYF2,GIGYF2,GIGYF2 EXON Missense_Q1220P,Missense_Q1226P,Missense_Q1247P,Missense_Q1226P exm276013 2 233735073 [T/C] NM_206895 C2orf82 EXON Missense_R8C exm276027 2 233741053 [T/C] NM_206895 C2orf82 EXON Missense_F118S exm276041 2 233745857 [A/G] NM_001114090,NM_019850 NGEF,NGEF EXON Synonymous_D555D,Synonymous_D647D exm276061 2 233748708 [G/C] NM_001114090,NM_019850 NGEF,NGEF EXON Missense_I436M,Missense_I528M exm276082 2 233756073 [T/C] NM_001114090,NM_019850 NGEF,NGEF EXON Missense_V331I,Missense_V423I exm276084 2 233756151 [T/C] NM_001114090,NM_019850 NGEF,NGEF EXON Missense_D305N,Missense_D397N exm276099 2 233757720 [T/C] NM_001114090,NM_019850 NGEF,NGEF EXON Missense_V252I,Missense_V344I exm276122 2 233785078 [C/G] NM_001114090,NM_019850 NGEF,NGEF EXON Missense_R156S,Missense_R248S exm276124 2 233785142 [A/G] NM_001114090,NM_019850 NGEF,NGEF EXON Missense_P135L,Missense_P227L exm276137 2 233834975 [A/G] NM_019850 NGEF EXON Missense_M111T exm2237288 2 233839369 [T/C] NM_019850 NGEF EXON Missense_R78G exm276148 2 233839448 [T/G] NM_019850 NGEF EXON Missense_K51N exm276157 2 233897414 [A/C] NM_005383 NEU2 EXON Missense_S11R exm276161 2 233897502 [T/C] NM_005383 NEU2 EXON Missense_R41W exm276162 2 233897503 [A/G] NM_005383 NEU2 EXON Missense_R41Q exm276173 2 233898857 [A/G] NM_005383 NEU2 EXON Missense_R78Q exm276181 2 233898992 [A/G] NM_005383 NEU2 EXON Missense_R123Q exm276182 2 233899057 [A/G] NM_005383 NEU2 EXON Missense_A145T exm276185 2 233899079 [A/G] NM_005383 NEU2 EXON Missense_R152Q exm276186 2 233899106 [T/C] NM_005383 NEU2 EXON Missense_P161L exm276187 2 233899126 [A/C] NM_005383 NEU2 EXON Missense_H168N exm276191 2 233899147 [A/G] NM_005383 NEU2 EXON Missense_V175M exm276194 2 233899169 [A/G] NM_005383 NEU2 EXON Missense_R182Q exm276201 2 233899234 [T/C] NM_005383 NEU2 EXON Missense_R204C exm2269379 2 233968153 [T/C] NM_001017915,NM_005541 INPP5D,INPP5D Silent,Silent exm276241 2 233986969 [T/G] NM_001017915,NM_005541 INPP5D,INPP5D Silent,Silent exm276247 2 233990575 [A/G] NM_001017915,NM_005541 INPP5D,INPP5D EXON Missense_R157Q,Missense_R156Q exm276250 2 233990592 [A/C] NM_001017915,NM_005541 INPP5D,INPP5D EXON Missense_T163P,Missense_T162P exm-rs10933436 2 233998481 [A/C] NM_001017915,NM_005541 INPP5D,INPP5D Silent,Silent exm276259 2 234054873 [A/G] NM_001017915,NM_005541 INPP5D,INPP5D EXON Missense_R245H,Missense_R244H exm276263 2 234066969 [G/C] NM_001017915,NM_005541 INPP5D,INPP5D EXON Nonsense_S319X,Nonsense_S318X exm276264 2 234067017 [A/G] NM_001017915,NM_005541 INPP5D,INPP5D EXON Missense_Q335R,Missense_Q334R exm276269 2 234072408 [A/G] NM_001017915,NM_005541 INPP5D,INPP5D EXON Missense_E404G,Missense_E403G exm276272 2 234072453 [T/C] NM_001017915,NM_005541 INPP5D,INPP5D EXON Missense_T419M,Missense_T418M exm276273 2 234072456 [G/C] NM_001017915,NM_005541 INPP5D,INPP5D EXON Missense_X420S,Missense_X419S exm276285 2 234079189 [T/C] NM_001017915,NM_005541 INPP5D,INPP5D EXON Missense_T585I,Missense_T584I exm276292 2 234085973 [T/C] NM_001017915,NM_005541 INPP5D,INPP5D EXON Missense_T656M,Missense_T655M exm276293 2 234085991 [T/C] NM_001017915,NM_005541 INPP5D,INPP5D EXON Missense_M662T,Missense_M661T exm276296 2 234091138 [T/C] NM_001017915,NM_005541 INPP5D,INPP5D EXON Missense_P690L,Missense_P689L exm276297 2 234093058 [T/C] NM_001017915,NM_005541 INPP5D,INPP5D EXON Missense_P694L,Missense_P693L exm276298 2 234093102 [A/G] NM_001017915,NM_005541 INPP5D,INPP5D EXON Missense_M709V,Missense_M708V exm276300 2 234093154 [A/G] NM_001017915,NM_005541 INPP5D,INPP5D EXON Missense_R726Q,Missense_R725Q exm276303 2 234098570 [T/C] NM_001017915,NM_005541 INPP5D,INPP5D EXON Missense_A783V,Missense_A782V exm276309 2 234102522 [T/C] NM_001017915,NM_005541 INPP5D,INPP5D EXON Missense_S809L,Missense_S808L exm276310 2 234102591 [A/G] NM_001017915,NM_005541 INPP5D,INPP5D EXON Missense_R832Q,Missense_R831Q exm276311 2 234104058 [A/G] NM_001017915,NM_005541 INPP5D,INPP5D EXON Missense_R842Q,Missense_R841Q exm276315 2 234104102 [A/C] NM_001017915,NM_005541 INPP5D,INPP5D EXON Missense_P857T,Missense_P856T exm276327 2 234106942 [T/C] NM_001017915,NM_005541 INPP5D,INPP5D EXON Missense_P937L,Missense_P936L exm276338 2 234112927 [A/G] NM_001017915,NM_005541 INPP5D,INPP5D EXON Missense_G1016R,Missense_G1015R exm276348 2 234113123 [A/G] NM_001017915,NM_005541 INPP5D,INPP5D EXON Missense_R1081Q,Missense_R1080Q exm2237297 2 234113197 [T/C] NM_001017915,NM_005541 INPP5D,INPP5D EXON Missense_R1106C,Missense_R1105C exm-rs10210302 2 234158839 [T/C] exm276369 2 234164834 [A/G] NM_017974,NM_030803,NM_001190267,NM_198890,NM_001190266 ATG16L1,ATG16L1,ATG16L1,ATG16L1,ATG16L1 EXON Missense_E68K,Missense_E68K,Silent,Missense_E68K,Silent exm276382 2 234178662 [A/G] NM_017974,NM_030803,NM_001190267,NM_198890,NM_001190266 ATG16L1,ATG16L1,ATG16L1,ATG16L1,ATG16L1 EXON Missense_R219Q,Missense_R219Q,Missense_R103Q,Missense_R75Q,Missense_R135Q exm-rs3828309 2 234180410 [A/G] NM_017974,NM_030803,NM_001190267,NM_198890,NM_001190266 ATG16L1,ATG16L1,ATG16L1,ATG16L1,ATG16L1 Silent,Silent,Silent,Silent,Silent exm276398 2 234183368 [A/G] NM_017974,NM_030803,NM_001190267,NM_198890,NM_001190266 ATG16L1,ATG16L1,ATG16L1,ATG16L1,ATG16L1 EXON Missense_T281A,Missense_T300A,Missense_T184A,Missense_T137A,Missense_T216A exm276399 2 234183377 [A/G] NM_017974,NM_030803,NM_001190267,NM_198890,NM_001190266 ATG16L1,ATG16L1,ATG16L1,ATG16L1,ATG16L1 EXON Missense_G284S,Missense_G303S,Missense_G187S,Missense_G140S,Missense_G219S exm-rs3792109 2 234184417 [A/G] NM_017974,NM_030803,NM_001190267,NM_198890,NM_001190266,NR_003008 ATG16L1,ATG16L1,ATG16L1,ATG16L1,ATG16L1,SCARNA5 EXON Silent,Silent,Silent,Silent,Silent,Silent exm276414 2 234186262 [T/C] NM_017974,NM_030803,NM_001190267,NM_198890,NM_001190266 ATG16L1,ATG16L1,ATG16L1,ATG16L1,ATG16L1 EXON Missense_R316W,Missense_R335W,Missense_R219W,Missense_R172W,Missense_R251W exm276445 2 234201945 [G/C] NM_017974,NM_030803,NM_001190267,NM_198890,NM_001190266 ATG16L1,ATG16L1,ATG16L1,ATG16L1,ATG16L1 EXON Missense_L539V,Missense_L558V,Missense_L442V,Missense_L395V,Missense_L474V exm276458 2 234217866 [A/G] NM_000541 SAG EXON Missense_E11K exm276459 2 234217870 [T/C] NM_000541 SAG EXON Missense_P12L exm276468 2 234227405 [A/G] NM_000541 SAG EXON Missense_V49M exm276469 2 234227414 [C/G] NM_000541 SAG EXON Missense_D52H exm276474 2 234229274 [A/G] NM_000541 SAG Silent exm276476 2 234229320 [A/G] NM_000541 SAG EXON Missense_I76V exm276483 2 234229344 [T/C] NM_000541 SAG EXON Missense_R84C exm276485 2 234229395 [A/G] NM_000541 SAG EXON Missense_A101T exm276489 2 234229468 [T/C] NM_000541 SAG EXON Missense_T125M exm2255122 2 234231636 [A/G] NM_000541 SAG EXON Synonymous_P140P exm276496 2 234235800 [A/G] NM_000541 SAG EXON Missense_A157T exm276497 2 234235804 [A/C] NM_000541 SAG EXON Missense_T158K exm276499 2 234235819 [A/C] NM_000541 SAG EXON Missense_A163D exm276508 2 234237188 [T/C] NM_000541 SAG EXON Nonsense_R193X exm276520 2 234240355 [T/C] NM_000541 SAG EXON Missense_A268V exm2007750 2 234240356 [T/G] NM_000541 SAG EXON Synonymous_A268A exm2255123 2 234240356 [T/G] NM_000541 SAG EXON Synonymous_A268A exm276527 2 234243673 [A/G] NM_000541 SAG EXON Missense_N291S exm276528 2 234243745 [T/C] NM_000541 SAG EXON Missense_I315T exm276541 2 234250943 [A/G] NM_000541 SAG EXON Missense_R358H exm276542 2 234250961 [T/C] NM_000541 SAG EXON Missense_P364L exm276550 2 234255472 [A/G] NM_000541 SAG EXON Missense_V378I exm276551 2 234255507 [A/T] NM_000541 SAG EXON Missense_D389E exm276552 2 234255547 [A/G] NM_000541 SAG EXON Missense_V403I exm276553 2 234255548 [T/C] NM_000541 SAG EXON Missense_V403A exm-rs838705 2 234273242 [A/G] NM_152879 DGKD Silent exm276629 2 234355413 [A/G] NM_152879,NM_003648 DGKD,DGKD EXON Missense_V464I,Missense_V420I exm276656 2 234357944 [T/C] NM_152879,NM_003648 DGKD,DGKD EXON Missense_R604W,Missense_R560W exm276673 2 234360642 [A/G] NM_152879,NM_003648 DGKD,DGKD EXON Missense_G734S,Missense_G690S exm276692 2 234366937 [T/C] NM_152879,NM_003648 DGKD,DGKD EXON Missense_A863V,Missense_A819V exm2007832 2 234368410 [T/C] NM_152879,NM_003648 DGKD,DGKD EXON Missense_T901M,Missense_T857M exm276730 2 234372897 [T/C] NM_152879,NM_003648 DGKD,DGKD EXON Missense_L1092F,Missense_L1048F exm276744 2 234377185 [T/C] NM_152879,NM_003648 DGKD,DGKD EXON Missense_R1181W,Missense_R1137W exm2265287 2 234380123 [A/G] NM_152879,NM_003648 DGKD,DGKD EXON Silent,Silent exm2237302 2 234386091 [A/G] NM_018218 USP40 EXON Missense_R1231W exm276762 2 234389922 [T/C] NM_018218 USP40 EXON Missense_D1187N exm2273875 2 234394209 [A/G] NM_018218 USP40 EXON Missense_Y1169H exm276774 2 234394468 [A/G] NM_018218 USP40 EXON Missense_I1129T exm276775 2 234394487 [A/G] NM_018218 USP40 EXON Missense_R1123C exm276776 2 234394489 [T/C] NM_018218 USP40 EXON Missense_Y1122C exm276779 2 234394520 [T/C] NM_018218 USP40 EXON Missense_G1112S exm276789 2 234394613 [T/C] NM_018218 USP40 EXON Missense_V1081M exm276791 2 234394623 [A/G] NM_018218 USP40 EXON Synonymous_G1077G exm276795 2 234398065 [A/G] NM_018218 USP40 EXON Missense_T1037M exm276799 2 234398099 [T/C] NM_018218 USP40 EXON Missense_G1026S exm276803 2 234399883 [T/C] NM_018218 USP40 EXON Missense_Q992R exm276804 2 234399886 [A/G] NM_018218 USP40 EXON Missense_A991V exm-rs6704644 2 234406655 [T/G] NM_018218 USP40 Silent exm276817 2 234408547 [T/C] NM_018218 USP40 EXON Missense_M887I exm276818 2 234418717 [T/C] NM_018218 USP40 EXON Missense_E875G exm276838 2 234431831 [G/C] NM_018218 USP40 EXON Missense_S740C exm276841 2 234431900 [T/C] NM_018218 USP40 EXON Missense_K717R exm276843 2 234431981 [T/G] NM_018218 USP40 EXON Missense_T690K exm276844 2 234431993 [T/C] NM_018218 USP40 EXON Missense_G686D exm276845 2 234431994 [A/C] NM_018218 USP40 EXON Missense_G686C exm276846 2 234432017 [A/G] NM_018218 USP40 EXON Missense_V678A exm276851 2 234432123 [A/G] NM_018218 USP40 EXON Missense_H643Y exm276855 2 234433190 [C/G] NM_018218 USP40 EXON Missense_C621S exm276857 2 234436069 [T/C] NM_018218 USP40 EXON Missense_R581Q exm276859 2 234436178 [C/G] NM_018218 USP40 EXON Missense_L545V exm276869 2 234442230 [T/C] NM_018218 USP40 EXON Missense_K467E exm276873 2 234442305 [T/G] NM_018218 USP40 EXON Missense_K442Q exm276877 2 234449358 [G/C] NM_018218 USP40 EXON Missense_G385R exm276878 2 234449382 [T/C] NM_018218 USP40 EXON Missense_G377S exm276895 2 234463130 [T/C] NM_018218 USP40 EXON Missense_G209S exm276906 2 234465572 [A/T] NM_018218 USP40 EXON Missense_Y171N exm-rs13394720 2 234502121 [T/C] exm276950 2 234526694 [A/G] NM_019076 UGT1A8 EXON Missense_N114S exm276956 2 234526784 [T/C] NM_019076 UGT1A8 EXON Missense_A144V exm276972 2 234527015 [A/C] NM_019076 UGT1A8 EXON Missense_Q221P exm277002 2 234545374 [T/C] NM_019076,NM_019075 UGT1A8,UGT1A10 EXON Silent,Missense_S69L exm277032 2 234545792 [A/G] NM_019076,NM_019075 UGT1A8,UGT1A10 EXON Silent,Nonsense_W208X exm277037 2 234545826 [T/C] NM_019076,NM_019075 UGT1A8,UGT1A10 EXON Silent,Missense_C220R exm277041 2 234545859 [A/G] NM_019076,NM_019075 UGT1A8,UGT1A10 EXON Silent,Missense_A231T exm277046 2 234545881 [T/C] NM_019076,NM_019075 UGT1A8,UGT1A10 EXON Silent,Missense_P238L exm277047 2 234545887 [T/C] NM_019076,NM_019075 UGT1A8,UGT1A10 EXON Silent,Missense_T240M exm-rs11892031 2 234565283 [A/C] NM_019076,NM_019075 UGT1A8,UGT1A10 Silent,Silent exm277059 2 234580588 [A/G] NM_019076,NM_019075,NM_021027 UGT1A8,UGT1A10,UGT1A9 EXON Silent,Silent,Missense_C3Y exm277071 2 234580842 [T/C] NM_019076,NM_019075,NM_021027 UGT1A8,UGT1A10,UGT1A9 EXON Silent,Silent,Missense_R88W exm277086 2 234581080 [T/C] NM_019076,NM_019075,NM_021027 UGT1A8,UGT1A10,UGT1A9 EXON Silent,Silent,Missense_V167A exm2007968 2 234581200 [T/A] NM_019076,NM_019075,NM_021027 UGT1A8,UGT1A10,UGT1A9 EXON Silent,Silent,Missense_V207E exm277104 2 234581306 [T/G] NM_019076,NM_019075,NM_021027 UGT1A8,UGT1A10,UGT1A9 EXON Silent,Silent,Nonsense_Y242X exm-rs2602381 2 234584324 [T/C] NM_019076,NM_019075,NM_021027 UGT1A8,UGT1A10,UGT1A9 Silent,Silent,Silent exm277123 2 234590826 [A/C] NM_019076,NM_019075,NM_021027,NM_019077 UGT1A8,UGT1A10,UGT1A9,UGT1A7 EXON Silent,Silent,Silent,Nonsense_Y81X exm277124 2 234590845 [T/C] NM_019076,NM_019075,NM_021027,NM_019077 UGT1A8,UGT1A10,UGT1A9,UGT1A7 EXON Silent,Silent,Silent,Missense_R88W exm277125 2 234590857 [A/G] NM_019076,NM_019075,NM_021027,NM_019077 UGT1A8,UGT1A10,UGT1A9,UGT1A7 EXON Silent,Silent,Silent,Missense_V92I exm277130 2 234590926 [A/G] NM_019076,NM_019075,NM_021027,NM_019077 UGT1A8,UGT1A10,UGT1A9,UGT1A7 EXON Silent,Silent,Silent,Missense_G115S exm277131 2 234590935 [T/G] NM_019076,NM_019075,NM_021027,NM_019077 UGT1A8,UGT1A10,UGT1A9,UGT1A7 EXON Silent,Silent,Silent,Missense_D118Y exm277137 2 234591000 [G/C] NM_019076,NM_019075,NM_021027,NM_019077 UGT1A8,UGT1A10,UGT1A9,UGT1A7 EXON Silent,Silent,Silent,Missense_E139D exm277150 2 234591295 [T/C] NM_019076,NM_019075,NM_021027,NM_019077 UGT1A8,UGT1A10,UGT1A9,UGT1A7 EXON Silent,Silent,Silent,Missense_P238S exm277155 2 234591343 [T/C] NM_019076,NM_019075,NM_021027,NM_019077 UGT1A8,UGT1A10,UGT1A9,UGT1A7 EXON Silent,Silent,Silent,Nonsense_R254X exm277156 2 234591344 [A/G] NM_019076,NM_019075,NM_021027,NM_019077 UGT1A8,UGT1A10,UGT1A9,UGT1A7 EXON Silent,Silent,Silent,Missense_R254Q exm277158 2 234591352 [T/G] NM_019076,NM_019075,NM_021027,NM_019077 UGT1A8,UGT1A10,UGT1A9,UGT1A7 EXON Silent,Silent,Silent,Missense_F257V exm2007980 2 234591411 [A/C] NM_019076,NM_019075,NM_021027,NM_019077 UGT1A8,UGT1A10,UGT1A9,UGT1A7 EXON Silent,Silent,Silent,Missense_N276K exm277163 2 234601669 [T/G] NM_019076,NM_019075,NM_021027,NM_019077,NM_205862,NM_001072 UGT1A8,UGT1A10,UGT1A9,UGT1A7,UGT1A6,UGT1A6 EXON Silent,Silent,Silent,Silent,Silent,Missense_S7A exm277169 2 234601774 [A/G] NM_019076,NM_019075,NM_021027,NM_019077,NM_205862,NM_001072 UGT1A8,UGT1A10,UGT1A9,UGT1A7,UGT1A6,UGT1A6 EXON Silent,Silent,Silent,Silent,Silent,Missense_M42V exm277175 2 234601919 [A/G] NM_019076,NM_019075,NM_021027,NM_019077,NM_205862,NM_001072 UGT1A8,UGT1A10,UGT1A9,UGT1A7,UGT1A6,UGT1A6 EXON Silent,Silent,Silent,Silent,Silent,Missense_R90H exm277187 2 234602191 [A/G] NM_019076,NM_019075,NM_021027,NM_019077,NM_205862,NM_001072 UGT1A8,UGT1A10,UGT1A9,UGT1A7,UGT1A6,UGT1A6 EXON Silent,Silent,Silent,Silent,Silent,Missense_T181A exm277188 2 234602202 [A/C] NM_019076,NM_019075,NM_021027,NM_019077,NM_205862,NM_001072 UGT1A8,UGT1A10,UGT1A9,UGT1A7,UGT1A6,UGT1A6 EXON Silent,Silent,Silent,Silent,Silent,Missense_R184S exm277192 2 234602311 [A/C] NM_019076,NM_019075,NM_021027,NM_019077,NM_205862,NM_001072 UGT1A8,UGT1A10,UGT1A9,UGT1A7,UGT1A6,UGT1A6 EXON Silent,Silent,Silent,Silent,Silent,Missense_L221I exm277212 2 234621825 [T/C] NM_019076,NM_019075,NM_021027,NM_019077,NM_205862,NM_001072,NM_019078 UGT1A8,UGT1A10,UGT1A9,UGT1A7,UGT1A6,UGT1A6,UGT1A5 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_L63P exm2007995 2 234621848 [T/G] NM_019076,NM_019075,NM_021027,NM_019077,NM_205862,NM_001072,NM_019078 UGT1A8,UGT1A10,UGT1A9,UGT1A7,UGT1A6,UGT1A6,UGT1A5 EXON Silent,Silent,Silent,Silent,Silent,Silent,Nonsense_E71X exm277217 2 234621909 [A/G] NM_019076,NM_019075,NM_021027,NM_019077,NM_205862,NM_001072,NM_019078 UGT1A8,UGT1A10,UGT1A9,UGT1A7,UGT1A6,UGT1A6,UGT1A5 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_R91H exm277222 2 234622028 [G/C] NM_019076,NM_019075,NM_021027,NM_019077,NM_205862,NM_001072,NM_019078 UGT1A8,UGT1A10,UGT1A9,UGT1A7,UGT1A6,UGT1A6,UGT1A5 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_L131V exm277229 2 234622110 [C/G] NM_019076,NM_019075,NM_021027,NM_019077,NM_205862,NM_001072,NM_019078 UGT1A8,UGT1A10,UGT1A9,UGT1A7,UGT1A6,UGT1A6,UGT1A5 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_A158G exm277288 2 234627668 [T/C] NM_019076,NM_019075,NM_021027,NM_019077,NM_205862,NM_001072,NM_019078,NM_007120 UGT1A8,UGT1A10,UGT1A9,UGT1A7,UGT1A6,UGT1A6,UGT1A5,UGT1A4 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_H68Y exm277290 2 234627682 [T/G] NM_019076,NM_019075,NM_021027,NM_019077,NM_205862,NM_001072,NM_019078,NM_007120 UGT1A8,UGT1A10,UGT1A9,UGT1A7,UGT1A6,UGT1A6,UGT1A5,UGT1A4 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_E72D exm277291 2 234627685 [A/C] NM_019076,NM_019075,NM_021027,NM_019077,NM_205862,NM_001072,NM_019078,NM_007120 UGT1A8,UGT1A10,UGT1A9,UGT1A7,UGT1A6,UGT1A6,UGT1A5,UGT1A4 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_K73N exm277292 2 234627701 [A/G] NM_019076,NM_019075,NM_021027,NM_019077,NM_205862,NM_001072,NM_019078,NM_007120 UGT1A8,UGT1A10,UGT1A9,UGT1A7,UGT1A6,UGT1A6,UGT1A5,UGT1A4 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_A79T exm2273876 2 234627737 [T/C] NM_019076,NM_019075,NM_021027,NM_019077,NM_205862,NM_001072,NM_019078,NM_007120 UGT1A8,UGT1A10,UGT1A9,UGT1A7,UGT1A6,UGT1A6,UGT1A5,UGT1A4 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_R91C exm2008014 2 234627744 [T/C] NM_019076,NM_019075,NM_021027,NM_019077,NM_205862,NM_001072,NM_019078,NM_007120 UGT1A8,UGT1A10,UGT1A9,UGT1A7,UGT1A6,UGT1A6,UGT1A5,UGT1A4 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_T93M exm277311 2 234627938 [A/G] NM_019076,NM_019075,NM_021027,NM_019077,NM_205862,NM_001072,NM_019078,NM_007120 UGT1A8,UGT1A10,UGT1A9,UGT1A7,UGT1A6,UGT1A6,UGT1A5,UGT1A4 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_G158R exm277318 2 234627963 [T/C] NM_019076,NM_019075,NM_021027,NM_019077,NM_205862,NM_001072,NM_019078,NM_007120 UGT1A8,UGT1A10,UGT1A9,UGT1A7,UGT1A6,UGT1A6,UGT1A5,UGT1A4 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_S166L exm277359 2 234637944 [A/G] NM_019076,NM_019075,NM_021027,NM_019077,NM_205862,NM_001072,NM_019078,NM_007120,NM_019093 UGT1A8,UGT1A10,UGT1A9,UGT1A7,UGT1A6,UGT1A6,UGT1A5,UGT1A4,UGT1A3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_A58T exm277372 2 234638110 [G/C] NM_019076,NM_019075,NM_021027,NM_019077,NM_205862,NM_001072,NM_019078,NM_007120,NM_019093 UGT1A8,UGT1A10,UGT1A9,UGT1A7,UGT1A6,UGT1A6,UGT1A5,UGT1A4,UGT1A3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_S113T exm277373 2 234638114 [A/G] NM_019076,NM_019075,NM_021027,NM_019077,NM_205862,NM_001072,NM_019078,NM_007120,NM_019093 UGT1A8,UGT1A10,UGT1A9,UGT1A7,UGT1A6,UGT1A6,UGT1A5,UGT1A4,UGT1A3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_M114I exm277380 2 234638228 [A/C] NM_019076,NM_019075,NM_021027,NM_019077,NM_205862,NM_001072,NM_019078,NM_007120,NM_019093 UGT1A8,UGT1A10,UGT1A9,UGT1A7,UGT1A6,UGT1A6,UGT1A5,UGT1A4,UGT1A3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_D152E exm277382 2 234638232 [A/G] NM_019076,NM_019075,NM_021027,NM_019077,NM_205862,NM_001072,NM_019078,NM_007120,NM_019093 UGT1A8,UGT1A10,UGT1A9,UGT1A7,UGT1A6,UGT1A6,UGT1A5,UGT1A4,UGT1A3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_V154I exm277410 2 234638580 [A/G] NM_019076,NM_019075,NM_021027,NM_019077,NM_205862,NM_001072,NM_019078,NM_007120,NM_019093 UGT1A8,UGT1A10,UGT1A9,UGT1A7,UGT1A6,UGT1A6,UGT1A5,UGT1A4,UGT1A3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_M270V exm277418 2 234652155 [G/C] NM_019076,NM_019075,NM_021027,NM_019077,NM_205862,NM_001072,NM_019078,NM_007120,NM_019093,NM_001001394 UGT1A8,UGT1A10,UGT1A9,UGT1A7,UGT1A6,UGT1A6,UGT1A5,UGT1A4,UGT1A3,DNAJB3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_S136R exm277422 2 234652193 [G/C] NM_019076,NM_019075,NM_021027,NM_019077,NM_205862,NM_001072,NM_019078,NM_007120,NM_019093,NM_001001394 UGT1A8,UGT1A10,UGT1A9,UGT1A7,UGT1A6,UGT1A6,UGT1A5,UGT1A4,UGT1A3,DNAJB3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_G124R exm277430 2 234652271 [T/C] NM_019076,NM_019075,NM_021027,NM_019077,NM_205862,NM_001072,NM_019078,NM_007120,NM_019093,NM_001001394 UGT1A8,UGT1A10,UGT1A9,UGT1A7,UGT1A6,UGT1A6,UGT1A5,UGT1A4,UGT1A3,DNAJB3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_D98N exm277431 2 234652308 [T/G] NM_019076,NM_019075,NM_021027,NM_019077,NM_205862,NM_001072,NM_019078,NM_007120,NM_019093,NM_001001394 UGT1A8,UGT1A10,UGT1A9,UGT1A7,UGT1A6,UGT1A6,UGT1A5,UGT1A4,UGT1A3,DNAJB3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_D85E exm-rs887829 2 234668570 [T/C] NM_019076,NM_019075,NM_021027,NM_019077,NM_205862,NM_001072,NM_019078,NM_007120,NM_019093 UGT1A8,UGT1A10,UGT1A9,UGT1A7,UGT1A6,UGT1A6,UGT1A5,UGT1A4,UGT1A3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm277474 2 234669100 [A/C] NM_019076,NM_019075,NM_021027,NM_019077,NM_205862,NM_001072,NM_019078,NM_007120,NM_019093,NM_000463 UGT1A8,UGT1A10,UGT1A9,UGT1A7,UGT1A6,UGT1A6,UGT1A5,UGT1A4,UGT1A3,UGT1A1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_E56A exm277476 2 234669144 [A/G] NM_019076,NM_019075,NM_021027,NM_019077,NM_205862,NM_001072,NM_019078,NM_007120,NM_019093,NM_000463 UGT1A8,UGT1A10,UGT1A9,UGT1A7,UGT1A6,UGT1A6,UGT1A5,UGT1A4,UGT1A3,UGT1A1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_G71R exm277479 2 234669259 [T/C] NM_019076,NM_019075,NM_021027,NM_019077,NM_205862,NM_001072,NM_019078,NM_007120,NM_019093,NM_000463 UGT1A8,UGT1A10,UGT1A9,UGT1A7,UGT1A6,UGT1A6,UGT1A5,UGT1A4,UGT1A3,UGT1A1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_V109A exm277480 2 234669287 [T/G] NM_019076,NM_019075,NM_021027,NM_019077,NM_205862,NM_001072,NM_019078,NM_007120,NM_019093,NM_000463 UGT1A8,UGT1A10,UGT1A9,UGT1A7,UGT1A6,UGT1A6,UGT1A5,UGT1A4,UGT1A3,UGT1A1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_K118N exm277485 2 234669576 [A/G] NM_019076,NM_019075,NM_021027,NM_019077,NM_205862,NM_001072,NM_019078,NM_007120,NM_019093,NM_000463 UGT1A8,UGT1A10,UGT1A9,UGT1A7,UGT1A6,UGT1A6,UGT1A5,UGT1A4,UGT1A3,UGT1A1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_I215V exm277486 2 234669607 [T/G] NM_019076,NM_019075,NM_021027,NM_019077,NM_205862,NM_001072,NM_019078,NM_007120,NM_019093,NM_000463 UGT1A8,UGT1A10,UGT1A9,UGT1A7,UGT1A6,UGT1A6,UGT1A5,UGT1A4,UGT1A3,UGT1A1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_V225G exm2273877 2 234669619 [A/C] NM_019076,NM_019075,NM_021027,NM_019077,NM_205862,NM_001072,NM_019078,NM_007120,NM_019093,NM_000463 UGT1A8,UGT1A10,UGT1A9,UGT1A7,UGT1A6,UGT1A6,UGT1A5,UGT1A4,UGT1A3,UGT1A1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_P229Q exm277491 2 234669681 [T/C] NM_019076,NM_019075,NM_021027,NM_019077,NM_205862,NM_001072,NM_019078,NM_007120,NM_019093,NM_000463 UGT1A8,UGT1A10,UGT1A9,UGT1A7,UGT1A6,UGT1A6,UGT1A5,UGT1A4,UGT1A3,UGT1A1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_S250P exm-rs6742078 2 234672639 [T/G] NM_019076,NM_019075,NM_021027,NM_019077,NM_205862,NM_001072,NM_019078,NM_007120,NM_019093,NM_000463 UGT1A8,UGT1A10,UGT1A9,UGT1A7,UGT1A6,UGT1A6,UGT1A5,UGT1A4,UGT1A3,UGT1A1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm-rs4148325 2 234673309 [T/C] NM_019076,NM_019075,NM_021027,NM_019077,NM_205862,NM_001072,NM_019078,NM_007120,NM_019093,NM_000463 UGT1A8,UGT1A10,UGT1A9,UGT1A7,UGT1A6,UGT1A6,UGT1A5,UGT1A4,UGT1A3,UGT1A1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm277510 2 234676872 [T/C] NM_019076,NM_019075,NM_021027,NM_019077,NM_205862,NM_001072,NM_019078,NM_007120,NM_019093,NM_000463 UGT1A8,UGT1A10,UGT1A9,UGT1A7,UGT1A6,UGT1A6,UGT1A5,UGT1A4,UGT1A3,UGT1A1 EXON Missense_P361L,Missense_P361L,Missense_P361L,Missense_P361L,Missense_P96L,Missense_P363L,Missense_P365L,Missense_P365L,Missense_P365L,Missense_P364L exm277516 2 234676937 [A/G] NM_019076,NM_019075,NM_021027,NM_019077,NM_205862,NM_001072,NM_019078,NM_007120,NM_019093,NM_000463 UGT1A8,UGT1A10,UGT1A9,UGT1A7,UGT1A6,UGT1A6,UGT1A5,UGT1A4,UGT1A3,UGT1A1 EXON Missense_V383I,Missense_V383I,Missense_V383I,Missense_V383I,Missense_V118I,Missense_V385I,Missense_V387I,Missense_V387I,Missense_V387I,Missense_V386I exm277524 2 234680927 [T/C] NM_019076,NM_019075,NM_021027,NM_019077,NM_205862,NM_001072,NM_019078,NM_007120,NM_019093,NM_000463 UGT1A8,UGT1A10,UGT1A9,UGT1A7,UGT1A6,UGT1A6,UGT1A5,UGT1A4,UGT1A3,UGT1A1 EXON Missense_R439C,Missense_R439C,Missense_R439C,Missense_R439C,Missense_R174C,Missense_R441C,Missense_R443C,Missense_R443C,Missense_R443C,Missense_R442C exm277527 2 234680955 [T/C] NM_019076,NM_019075,NM_021027,NM_019077,NM_205862,NM_001072,NM_019078,NM_007120,NM_019093,NM_000463 UGT1A8,UGT1A10,UGT1A9,UGT1A7,UGT1A6,UGT1A6,UGT1A5,UGT1A4,UGT1A3,UGT1A1 EXON Missense_P448L,Missense_P448L,Missense_P448L,Missense_P448L,Missense_P183L,Missense_P450L,Missense_P452L,Missense_P452L,Missense_P452L,Missense_P451L exm2237316 2 234681059 [T/G] NM_019076,NM_019075,NM_021027,NM_019077,NM_205862,NM_001072,NM_019078,NM_007120,NM_019093,NM_000463 UGT1A8,UGT1A10,UGT1A9,UGT1A7,UGT1A6,UGT1A6,UGT1A5,UGT1A4,UGT1A3,UGT1A1 EXON Missense_Y483D,Missense_Y483D,Missense_Y483D,Missense_Y483D,Missense_Y218D,Missense_Y485D,Missense_Y487D,Missense_Y487D,Missense_Y487D,Missense_Y486D exm-rs2361502 2 234698790 [T/C] exm-IND2-234396361 2 234731623 [D/I] exm277632 2 234749258 [T/C] NM_018410 HJURP EXON Missense_E723G exm277636 2 234749352 [T/C] NM_018410 HJURP EXON Missense_G692R exm277637 2 234749354 [A/G] NM_018410 HJURP EXON Missense_S691F exm277654 2 234749673 [T/C] NM_018410 HJURP EXON Missense_D585N exm277655 2 234749694 [T/C] NM_018410 HJURP EXON Missense_D578N exm277658 2 234749722 [T/G] NM_018410 HJURP EXON Missense_E568D exm277663 2 234749783 [G/C] NM_018410 HJURP EXON Missense_S548T exm277664 2 234749810 [A/G] NM_018410 HJURP EXON Missense_T539I exm277665 2 234749819 [A/G] NM_018410 HJURP EXON Missense_P536L exm277667 2 234749859 [A/G] NM_018410 HJURP EXON Missense_S523P exm277668 2 234749871 [T/C] NM_018410 HJURP EXON Missense_D519N exm277678 2 234750050 [A/G] NM_018410 HJURP EXON Missense_P459L exm277679 2 234750065 [T/C] NM_018410 HJURP EXON Missense_R454H exm277694 2 234750380 [T/C] NM_018410 HJURP EXON Missense_R349H exm277696 2 234750428 [T/C] NM_018410 HJURP EXON Missense_G333E exm277697 2 234750449 [G/C] NM_018410 HJURP EXON Missense_P326R exm277703 2 234750526 [T/G] NM_018410 HJURP EXON Missense_R300S exm277713 2 234750654 [T/C] NM_018410 HJURP EXON Missense_V258M exm277714 2 234750666 [T/C] NM_018410 HJURP EXON Missense_D254N exm277715 2 234750680 [T/G] NM_018410 HJURP EXON Missense_P249H exm2008089 2 234750805 [T/A] NM_018410 HJURP EXON Missense_K207N exm277717 2 234750831 [T/C] NM_018410 HJURP EXON Missense_R199G exm277721 2 234752851 [T/C] NM_018410 HJURP EXON Missense_G192R exm2008093 2 234752857 [T/C] NM_018410 HJURP EXON Missense_A190T exm277722 2 234752863 [T/C] NM_018410 HJURP EXON Missense_V188M exm277735 2 234756072 [C/G] NM_018410 HJURP EXON Missense_Q125E exm277749 2 234761225 [T/C] NM_018410 HJURP EXON Missense_E76K exm277759 2 234763137 [T/C] NM_018410 HJURP EXON Missense_T4A exm277761 2 234763140 [C/G] NM_018410 HJURP EXON Missense_G3R exm-rs10166942 2 234825093 [T/C] exm2008110 2 234835179 [A/C] NM_024080 TRPM8 EXON Silent exm277794 2 234839386 [T/C] NM_024080 TRPM8 EXON Missense_T64M exm277809 2 234847750 [A/G] NM_024080 TRPM8 EXON Missense_K153E exm2008121 2 234847790 [A/G] NM_024080 TRPM8 EXON Missense_S166N exm277825 2 234854540 [C/G] NM_024080 TRPM8 EXON Missense_R247T exm277828 2 234854552 [A/G] NM_024080 TRPM8 EXON Missense_Y251C exm277848 2 234858728 [T/C] NM_024080 TRPM8 EXON Missense_R360C exm277854 2 234858771 [T/C] NM_024080 TRPM8 EXON Missense_T374I exm2261215 2 234862040 [A/G] NM_024080 TRPM8 Silent exm277866 2 234863883 [A/C] NM_024080 TRPM8 EXON Missense_R451S exm277867 2 234863886 [T/C] NM_024080 TRPM8 EXON Nonsense_R452X exm277872 2 234869442 [T/C] NM_024080 TRPM8 EXON Missense_M462T exm277878 2 234869565 [T/C] NM_024080 TRPM8 EXON Missense_T503M exm2008143 2 234871987 [A/C] NM_024080 TRPM8 EXON Missense_N572T exm277895 2 234873276 [A/G] NM_024080 TRPM8 EXON Missense_R585K exm277916 2 234878910 [T/C] NM_024080 TRPM8 EXON Missense_T732I exm277923 2 234878997 [A/G] NM_024080 TRPM8 EXON Missense_H761R exm2008160 2 234879015 [G/C] NM_024080 TRPM8 EXON Missense_P767R exm277932 2 234890432 [A/G] NM_024080 TRPM8 EXON Missense_N821S exm277933 2 234890455 [T/C] NM_024080 TRPM8 EXON Nonsense_R829X exm277942 2 234891850 [A/G] NM_024080 TRPM8 EXON Missense_V915M exm277957 2 234904986 [A/G] NM_024080 TRPM8 EXON Missense_V986I exm277963 2 234905085 [A/G] NM_024080 TRPM8 EXON Missense_A1019T exm277969 2 234915578 [T/C] NM_024080 TRPM8 EXON Missense_A1071V exm277974 2 234916725 [A/G] NM_024080 TRPM8 EXON Missense_R1081Q exm277978 2 234923243 [A/G] NM_024080 TRPM8 EXON Missense_N1101S exm2008190 2 234959653 [A/G] NM_006944 SPP2 EXON Missense_D42N exm277991 2 234959687 [C/G] NM_006944 SPP2 EXON Missense_S53C exm277992 2 234959702 [T/C] NM_006944 SPP2 EXON Missense_P58L exm277999 2 234967570 [A/G] NM_006944 SPP2 EXON Missense_A101T exm278000 2 234967597 [T/G] NM_006944 SPP2 EXON Missense_Y110D exm278009 2 234975184 [T/C] NM_006944 SPP2 EXON Missense_F151S exm2269380 2 235255122 [T/C] exm-rs6736997 2 235615197 [A/C] exm-rs2042831 2 235857114 [A/G] exm278044 2 235943693 [A/G] NM_014521 SH3BP4 EXON Missense_R16H exm2255134 2 235943745 [A/G] NM_014521 SH3BP4 EXON Synonymous_T33T exm2008369 2 235949681 [A/G] NM_014521 SH3BP4 EXON Missense_G90S exm278063 2 235949877 [T/C] NM_014521 SH3BP4 EXON Missense_M155T exm278066 2 235949936 [A/G] NM_014521 SH3BP4 EXON Missense_V175M exm278071 2 235950002 [A/G] NM_014521 SH3BP4 EXON Missense_A197T exm2008375 2 235950038 [A/G] NM_014521 SH3BP4 EXON Missense_T209A exm278078 2 235950105 [T/C] NM_014521 SH3BP4 EXON Missense_P231L exm2008376 2 235950167 [A/G] NM_014521 SH3BP4 EXON Missense_V252I exm278090 2 235950356 [A/G] NM_014521 SH3BP4 EXON Missense_V315M exm278094 2 235950386 [A/G] NM_014521 SH3BP4 EXON Missense_S325G exm278099 2 235950461 [A/G] NM_014521 SH3BP4 EXON Missense_E350K exm2237325 2 235950489 [T/C] NM_014521 SH3BP4 EXON Missense_L359P exm278109 2 235950705 [A/G] NM_014521 SH3BP4 EXON Missense_N431S exm278111 2 235950729 [A/G] NM_014521 SH3BP4 EXON Missense_Q439R exm278112 2 235950749 [A/G] NM_014521 SH3BP4 EXON Missense_E446K exm278117 2 235950824 [A/C] NM_014521 SH3BP4 EXON Missense_N471H exm278128 2 235950944 [T/C] NM_014521 SH3BP4 EXON Missense_R511C exm278129 2 235950945 [T/G] NM_014521 SH3BP4 EXON Missense_R511L exm278131 2 235951001 [A/G] NM_014521 SH3BP4 EXON Missense_V530I exm2255136 2 235951006 [A/G] NM_014521 SH3BP4 EXON Synonymous_L531L exm278138 2 235951169 [G/C] NM_014521 SH3BP4 EXON Missense_D586H exm278141 2 235951199 [A/G] NM_014521 SH3BP4 EXON Missense_D596N exm278144 2 235951250 [G/C] NM_014521 SH3BP4 EXON Missense_P613A exm278159 2 235951613 [A/G] NM_014521 SH3BP4 EXON Missense_E734K exm2008395 2 235951752 [A/G] NM_014521 SH3BP4 EXON Missense_N780S exm278170 2 235951814 [A/G] NM_014521 SH3BP4 EXON Missense_V801I exm278172 2 235951845 [A/G] NM_014521 SH3BP4 EXON Missense_N811S exm278193 2 235962452 [A/G] NM_014521 SH3BP4 EXON Missense_V962M exm2269237 2 236021090 [T/C] exm2261218 2 236294462 [T/C] exm2269238 2 236450763 [T/C] NM_014914,NM_001244888,NM_001037131 AGAP1,AGAP1,AGAP1 Silent,Silent,Silent exm278207 2 236617868 [T/C] NM_014914,NM_001244888,NM_001037131 AGAP1,AGAP1,AGAP1 EXON Missense_P70L,Missense_P70L,Missense_P70L exm278211 2 236626225 [A/G] NM_014914,NM_001244888,NM_001037131 AGAP1,AGAP1,AGAP1 EXON Missense_G83S,Missense_G83S,Missense_G83S exm278228 2 236659030 [A/G] NM_014914,NM_001244888,NM_001037131 AGAP1,AGAP1,AGAP1 EXON Missense_D191N,Missense_D191N,Missense_D191N exm278229 2 236659033 [A/G] NM_014914,NM_001244888,NM_001037131 AGAP1,AGAP1,AGAP1 EXON Missense_D192N,Missense_D192N,Missense_D192N exm278244 2 236706449 [A/G] NM_014914,NM_001244888,NM_001037131 AGAP1,AGAP1,AGAP1 EXON Missense_I240M,Missense_I240M,Missense_I240M exm278253 2 236708166 [T/C] NM_014914,NM_001244888,NM_001037131 AGAP1,AGAP1,AGAP1 EXON Synonymous_T319T,Synonymous_T319T,Synonymous_T319T exm278254 2 236715883 [T/C] NM_014914,NM_001244888,NM_001037131 AGAP1,AGAP1,AGAP1 EXON Missense_S320P,Missense_S320P,Missense_S320P exm278255 2 236715907 [A/C] NM_014914,NM_001244888,NM_001037131 AGAP1,AGAP1,AGAP1 EXON Missense_K328Q,Missense_K328Q,Missense_K328Q exm278256 2 236715932 [A/G] NM_014914,NM_001244888,NM_001037131 AGAP1,AGAP1,AGAP1 EXON Missense_R336H,Missense_R336H,Missense_R336H exm2263929 2 236792769 [A/C] NM_014914,NM_001037131 AGAP1,AGAP1 Silent,Silent exm278279 2 236839483 [A/G] NM_014914,NM_001037131 AGAP1,AGAP1 EXON Silent,Missense_G467S exm278284 2 236839546 [C/G] NM_014914,NM_001037131 AGAP1,AGAP1 EXON Silent,Missense_A488P exm278287 2 236877175 [T/C] NM_014914,NM_001037131 AGAP1,AGAP1 EXON Missense_P465L,Missense_P518L exm278288 2 236877181 [G/C] NM_014914,NM_001037131 AGAP1,AGAP1 EXON Missense_P467R,Missense_P520R exm278293 2 236877255 [A/G] NM_014914,NM_001037131 AGAP1,AGAP1 EXON Missense_G492S,Missense_G545S exm278320 2 236957822 [A/G] NM_014914,NM_001037131 AGAP1,AGAP1 EXON Missense_V618I,Missense_V671I exm278325 2 236957873 [A/G] NM_014914,NM_001037131 AGAP1,AGAP1 EXON Missense_V635I,Missense_V688I exm278327 2 236957897 [T/C] NM_014914,NM_001037131 AGAP1,AGAP1 EXON Missense_R643W,Missense_R696W exm278328 2 236957901 [T/C] NM_014914,NM_001037131 AGAP1,AGAP1 EXON Missense_T644M,Missense_T697M exm278330 2 237028849 [T/C] NM_014914,NM_001037131 AGAP1,AGAP1 EXON Missense_R657W,Missense_R710W exm278355 2 237032585 [A/G] NM_014914,NM_001037131 AGAP1,AGAP1 EXON Missense_R745Q,Missense_R798Q exm278361 2 237032671 [T/C] NM_014914,NM_001037131 AGAP1,AGAP1 EXON Missense_P774S,Missense_P827S exm278400 2 237076209 [C/G] NM_001485 GBX2 EXON Missense_G136R exm278423 2 237103616 [T/C] NM_212556 ASB18 EXON Missense_R434G exm278428 2 237103631 [A/G] NM_212556 ASB18 EXON Missense_R429C exm278429 2 237103651 [T/C] NM_212556 ASB18 EXON Missense_R422H exm2255146 2 237103689 [T/C] NM_212556 ASB18 EXON Synonymous_P409P exm278433 2 237103697 [T/G] NM_212556 ASB18 EXON Missense_H407N exm2237329 2 237123009 [T/G] NM_212556 ASB18 EXON Missense_P366H exm278462 2 237149922 [T/C] NM_212556 ASB18 Silent exm278464 2 237149941 [T/C] NM_212556 ASB18 EXON Missense_A104T exm278466 2 237149956 [A/G] NM_212556 ASB18 EXON Nonsense_Q99X exm-rs13390159 2 237156549 [A/G] NM_212556 ASB18 Silent exm278472 2 237172796 [T/C] NM_212556 ASB18 EXON Missense_G65S exm278478 2 237172867 [A/G] NM_212556 ASB18 EXON Missense_T41M exm278481 2 237172957 [A/G] NM_212556 ASB18 EXON Missense_P11L exm2261221 2 237209197 [A/C] exm278489 2 237233420 [A/T] NM_001270584,NM_001270585,NR_073043,NM_024726 IQCA1,IQCA1,IQCA1,IQCA1 EXON Missense_Y753N,Missense_Y802N,Silent,Missense_Y794N exm2008906 2 237240076 [C/G] NM_001270584,NM_001270585,NR_073043,NM_024726 IQCA1,IQCA1,IQCA1,IQCA1 EXON Missense_L726V,Missense_L775V,Silent,Missense_L767V exm278496 2 237240216 [T/C] NM_001270584,NM_001270585,NR_073043,NM_024726 IQCA1,IQCA1,IQCA1,IQCA1 EXON Missense_R679H,Missense_R728H,Silent,Missense_R720H exm278499 2 237246905 [A/G] NM_001270584,NM_001270585,NR_073043,NM_024726 IQCA1,IQCA1,IQCA1,IQCA1 EXON Missense_C652R,Missense_C701R,Silent,Missense_C693R exm278502 2 237246937 [T/C] NM_001270584,NM_001270585,NR_073043,NM_024726 IQCA1,IQCA1,IQCA1,IQCA1 EXON Missense_R641Q,Missense_R690Q,Silent,Missense_R682Q exm278503 2 237246994 [G/C] NM_001270584,NM_001270585,NR_073043,NM_024726 IQCA1,IQCA1,IQCA1,IQCA1 EXON Missense_P622R,Missense_P671R,Silent,Missense_P663R exm278504 2 237247013 [A/G] NM_001270584,NM_001270585,NR_073043,NM_024726 IQCA1,IQCA1,IQCA1,IQCA1 EXON Missense_R616C,Missense_R665C,Silent,Missense_R657C exm278520 2 237276881 [A/C] NM_001270584,NM_001270585,NR_073043,NM_024726 IQCA1,IQCA1,IQCA1,IQCA1 EXON Missense_L501R,Missense_L550R,Silent,Missense_L542R exm278533 2 237300648 [T/G] NM_001270584,NM_001270585,NR_073043,NM_024726 IQCA1,IQCA1,IQCA1,IQCA1 EXON Missense_P421T,Missense_P469T,Silent,Missense_P462T exm278534 2 237300650 [T/C] NM_001270584,NM_001270585,NR_073043,NM_024726 IQCA1,IQCA1,IQCA1,IQCA1 EXON Missense_R420H,Missense_R468H,Silent,Missense_R461H exm278536 2 237300677 [T/C] NM_001270584,NM_001270585,NR_073043,NM_024726 IQCA1,IQCA1,IQCA1,IQCA1 EXON Missense_K411R,Missense_K459R,Silent,Missense_K452R exm2269239 2 237302114 [T/C] NM_001270584,NM_001270585,NR_073043,NM_024726 IQCA1,IQCA1,IQCA1,IQCA1 Silent,Silent,Silent,Silent exm278539 2 237308065 [T/C] NM_001270584,NM_001270585,NR_073043,NM_024726 IQCA1,IQCA1,IQCA1,IQCA1 EXON Missense_A360T,Missense_A408T,Silent,Missense_A401T exm278545 2 237327841 [T/C] NM_001270584,NM_001270585,NR_073043,NM_024726 IQCA1,IQCA1,IQCA1,IQCA1 EXON Silent,Missense_Q369R,Silent,Missense_Q362R exm278549 2 237349715 [G/C] NM_001270584,NM_001270585,NR_073043,NM_024726 IQCA1,IQCA1,IQCA1,IQCA1 EXON Missense_A327P,Missense_A334P,Silent,Missense_A327P exm278555 2 237374170 [A/G] NM_001270584,NM_001270585,NR_073043,NM_024726 IQCA1,IQCA1,IQCA1,IQCA1 EXON Missense_R302W,Missense_R309W,Silent,Missense_R302W exm278558 2 237374203 [T/C] NM_001270584,NM_001270585,NR_073043,NM_024726 IQCA1,IQCA1,IQCA1,IQCA1 EXON Missense_V291M,Missense_V298M,Silent,Missense_V291M exm278561 2 237374286 [T/C] NM_001270584,NM_001270585,NR_073043,NM_024726 IQCA1,IQCA1,IQCA1,IQCA1 EXON Missense_R263Q,Missense_R270Q,Silent,Missense_R263Q exm278562 2 237374287 [A/G] NM_001270584,NM_001270585,NR_073043,NM_024726 IQCA1,IQCA1,IQCA1,IQCA1 EXON Missense_R263W,Missense_R270W,Silent,Missense_R263W exm2009043 2 237395521 [C/G] NM_001270584,NM_001270585,NR_073043,NM_024726 IQCA1,IQCA1,IQCA1,IQCA1 EXON Missense_R224P,Missense_R231P,Silent,Missense_R224P exm278576 2 237402431 [T/C] NM_001270584,NM_001270585,NR_073043,NM_024726 IQCA1,IQCA1,IQCA1,IQCA1 EXON Missense_G146R,Missense_G153R,Silent,Missense_G146R exm278587 2 237405952 [T/C] NM_001270584,NM_001270585,NR_073043,NM_024726 IQCA1,IQCA1,IQCA1,IQCA1 EXON Missense_V64I,Missense_V71I,Silent,Missense_V64I exm278589 2 237405961 [T/C] NM_001270584,NM_001270585,NR_073043,NM_024726 IQCA1,IQCA1,IQCA1,IQCA1 EXON Missense_D61N,Missense_D68N,Silent,Missense_D61N exm278593 2 237406039 [T/G] NM_001270584,NM_001270585,NR_073043,NM_024726 IQCA1,IQCA1,IQCA1,IQCA1 EXON Missense_Q35K,Missense_Q42K,Silent,Missense_Q35K exm278596 2 237406078 [T/C] NM_001270584,NM_001270585,NR_073043,NM_024726 IQCA1,IQCA1,IQCA1,IQCA1 EXON Missense_D22N,Missense_D29N,Silent,Missense_D22N exm278608 2 237489232 [A/G] NM_020311 CXCR7 EXON Missense_V42I exm278613 2 237489298 [G/C] NM_020311 CXCR7 EXON Missense_V64L exm278624 2 237489526 [A/G] NM_020311 CXCR7 EXON Missense_V140M exm278627 2 237489606 [C/G] NM_020311 CXCR7 EXON Missense_I166M exm278628 2 237489611 [T/C] NM_020311 CXCR7 EXON Missense_V168A exm278630 2 237489631 [A/G] NM_020311 CXCR7 EXON Missense_V175M exm278634 2 237489664 [A/G] NM_020311 CXCR7 EXON Missense_V186I exm278646 2 237489796 [A/G] NM_020311 CXCR7 EXON Missense_V230I exm278647 2 237489859 [T/C] NM_020311 CXCR7 EXON Missense_R251W exm278658 2 237490000 [T/C] NM_020311 CXCR7 EXON Missense_H298Y exm278667 2 237490115 [T/C] NM_020311 CXCR7 EXON Missense_A336V exm278691 2 237997288 [A/G] NM_198189,NM_006710 COPS8,COPS8 EXON Missense_I15V,Missense_I64V exm278695 2 238002768 [A/C] NM_198189,NM_006710 COPS8,COPS8 EXON Missense_Q74K,Missense_Q123K exm2009440 2 238002837 [A/G] NM_198189,NM_006710 COPS8,COPS8 EXON Missense_K97E,Missense_K146E exm2255163 2 238189278 [T/G] exm278718 2 238233427 [A/G] NM_004369,NM_057167,NM_057166 COL6A3,COL6A3,COL6A3 EXON Missense_M3175T,Missense_M2969T,Missense_M2568T exm2255164 2 238233453 [A/G] NM_004369,NM_057167,NM_057166 COL6A3,COL6A3,COL6A3 EXON Synonymous_L3166L,Synonymous_L2960L,Synonymous_L2559L exm278730 2 238234302 [A/G] NM_004369,NM_057167,NM_057166 COL6A3,COL6A3,COL6A3 EXON Missense_P3132S,Missense_P2926S,Missense_P2525S exm278737 2 238242176 [C/G] NM_004369,NM_057167,NM_057166 COL6A3,COL6A3,COL6A3 EXON Missense_P3082R,Missense_P2876R,Missense_P2475R exm278740 2 238243281 [T/C] NM_004369,NM_057167,NM_057166 COL6A3,COL6A3,COL6A3 EXON Missense_S3073G,Missense_S2867G,Missense_S2466G exm278742 2 238243292 [A/G] NM_004369,NM_057167,NM_057166 COL6A3,COL6A3,COL6A3 EXON Missense_T3069I,Missense_T2863I,Missense_T2462I exm2009795 2 238243350 [T/C] NM_004369,NM_057167,NM_057166 COL6A3,COL6A3,COL6A3 EXON Missense_A3050T,Missense_A2844T,Missense_A2443T exm278750 2 238243382 [A/G] NM_004369,NM_057167,NM_057166 COL6A3,COL6A3,COL6A3 EXON Missense_T3039M,Missense_T2833M,Missense_T2432M exm278755 2 238243437 [G/C] NM_004369,NM_057167,NM_057166 COL6A3,COL6A3,COL6A3 EXON Missense_D3021H,Missense_D2815H,Missense_D2414H exm278759 2 238243464 [C/G] NM_004369,NM_057167,NM_057166 COL6A3,COL6A3,COL6A3 EXON Missense_A3012P,Missense_A2806P,Missense_A2405P exm2237336 2 238243481 [T/C] NM_004369,NM_057167,NM_057166 COL6A3,COL6A3,COL6A3 EXON Missense_K3006R,Missense_K2800R,Missense_K2399R exm278777 2 238244939 [A/G] NM_004369,NM_057167,NM_057166 COL6A3,COL6A3,COL6A3 EXON Missense_A2935V,Missense_A2729V,Missense_A2328V exm278779 2 238244963 [A/G] NM_004369,NM_057167,NM_057166 COL6A3,COL6A3,COL6A3 EXON Missense_M2927T,Missense_M2721T,Missense_M2320T exm278782 2 238245008 [A/G] NM_004369,NM_057167,NM_057166 COL6A3,COL6A3,COL6A3 EXON Missense_P2912L,Missense_P2706L,Missense_P2305L exm278786 2 238245107 [A/G] NM_004369,NM_057167,NM_057166 COL6A3,COL6A3,COL6A3 EXON Missense_T2879M,Missense_T2673M,Missense_T2272M exm278798 2 238247734 [C/G] NM_004369,NM_057167,NM_057166 COL6A3,COL6A3,COL6A3 EXON Missense_D2831H,Missense_D2625H,Missense_D2224H exm278801 2 238249101 [T/C] NM_004369,NM_057167,NM_057166 COL6A3,COL6A3,COL6A3 EXON Missense_V2820I,Missense_V2614I,Missense_V2213I exm278817 2 238249316 [A/G] NM_004369,NM_057167,NM_057166 COL6A3,COL6A3,COL6A3 EXON Missense_P2748L,Missense_P2542L,Missense_P2141L exm278822 2 238249370 [T/G] NM_004369,NM_057167,NM_057166 COL6A3,COL6A3,COL6A3 EXON Missense_A2730D,Missense_A2524D,Missense_A2123D exm278830 2 238249550 [A/G] NM_004369,NM_057167,NM_057166 COL6A3,COL6A3,COL6A3 EXON Missense_A2670V,Missense_A2464V,Missense_A2063V exm278846 2 238249710 [T/C] NM_004369,NM_057167,NM_057166 COL6A3,COL6A3,COL6A3 EXON Missense_D2617N,Missense_D2411N,Missense_D2010N exm278855 2 238250788 [A/G] NM_004369,NM_057167,NM_057166 COL6A3,COL6A3,COL6A3 EXON Missense_V2562A,Missense_V2356A,Missense_V1955A exm278856 2 238250803 [T/A] NM_004369,NM_057167,NM_057166 COL6A3,COL6A3,COL6A3 EXON Missense_I2557N,Missense_I2351N,Missense_I1950N exm2275644 2 238253016 [A/G] NM_004369,NM_057167,NM_057166 COL6A3,COL6A3,COL6A3 EXON Missense_R2549W,Missense_R2343W,Missense_R1942W exm278872 2 238253214 [T/C] NM_004369,NM_057167,NM_057166 COL6A3,COL6A3,COL6A3 EXON Missense_K2483E,Missense_K2277E,Missense_K1876E exm278873 2 238253220 [T/C] NM_004369,NM_057167,NM_057166 COL6A3,COL6A3,COL6A3 EXON Missense_T2481A,Missense_T2275A,Missense_T1874A exm278875 2 238253261 [A/G] NM_004369,NM_057167,NM_057166 COL6A3,COL6A3,COL6A3 EXON Missense_S2467L,Missense_S2261L,Missense_S1860L exm278884 2 238253403 [A/G] NM_004369,NM_057167,NM_057166 COL6A3,COL6A3,COL6A3 EXON Missense_R2420W,Missense_R2214W,Missense_R1813W exm278889 2 238253585 [A/G] NM_004369,NM_057167,NM_057166 COL6A3,COL6A3,COL6A3 EXON Synonymous_Y2391Y,Synonymous_Y2185Y,Synonymous_Y1784Y exm278897 2 238253835 [T/C] NM_004369,NM_057167,NM_057166 COL6A3,COL6A3,COL6A3 EXON Missense_D2372N,Missense_D2166N,Missense_D1765N exm2277224 2 238256472 [A/G] NM_004369,NM_057167,NM_057166 COL6A3,COL6A3,COL6A3 EXON Missense_P2336L,Missense_P2130L,Missense_P1729L exm2255166 2 238257013 [A/G] NM_004369,NM_057167,NM_057166 COL6A3,COL6A3,COL6A3 EXON Synonymous_F2315F,Synonymous_F2109F,Synonymous_F1708F exm278924 2 238258801 [A/G] NM_004369,NM_057167,NM_057166 COL6A3,COL6A3,COL6A3 EXON Missense_R2290C,Missense_R2084C,Missense_R1683C exm278933 2 238261167 [A/G] NM_004369,NM_057167,NM_057166 COL6A3,COL6A3,COL6A3 EXON Missense_R2251W,Missense_R2045W,Missense_R1644W exm278938 2 238262021 [A/G] NM_004369,NM_057167,NM_057166 COL6A3,COL6A3,COL6A3 EXON Missense_P2218L,Missense_P2012L,Missense_P1611L exm278962 2 238268025 [A/G] NM_004369,NM_057167,NM_057166 COL6A3,COL6A3,COL6A3 EXON Missense_R2097W,Missense_R1891W,Missense_R1490W exm278966 2 238268789 [A/G] NM_004369,NM_057167,NM_057166 COL6A3,COL6A3,COL6A3 EXON Missense_P2075L,Missense_P1869L,Missense_P1468L exm278975 2 238270410 [T/C] NM_004369,NM_057167,NM_057166 COL6A3,COL6A3,COL6A3 EXON Missense_R2043H,Missense_R1837H,Missense_R1436H exm278986 2 238271991 [A/G] NM_004369,NM_057167,NM_057166 COL6A3,COL6A3,COL6A3 EXON Missense_R1990W,Missense_R1784W,Missense_R1383W exm278988 2 238272006 [T/C] NM_004369,NM_057167,NM_057166 COL6A3,COL6A3,COL6A3 EXON Missense_V1985M,Missense_V1779M,Missense_V1378M exm278993 2 238274346 [C/G] NM_004369,NM_057167,NM_057166 COL6A3,COL6A3,COL6A3 EXON Missense_V1945L,Missense_V1739L,Missense_V1338L exm278999 2 238274436 [A/G] NM_004369,NM_057167,NM_057166 COL6A3,COL6A3,COL6A3 EXON Missense_R1915W,Missense_R1709W,Missense_R1308W exm279000 2 238274445 [T/C] NM_004369,NM_057167,NM_057166 COL6A3,COL6A3,COL6A3 EXON Missense_E1912K,Missense_E1706K,Missense_E1305K exm279014 2 238274569 [T/G] NM_004369,NM_057167,NM_057166 COL6A3,COL6A3,COL6A3 EXON Missense_S1870R,Missense_S1664R,Missense_S1263R exm279033 2 238275569 [T/C] NM_004369,NM_057167,NM_057166 COL6A3,COL6A3,COL6A3 EXON Missense_K1754R,Missense_K1548R,Missense_K1147R exm279036 2 238275651 [A/G] NM_004369,NM_057167,NM_057166 COL6A3,COL6A3,COL6A3 EXON Missense_R1727W,Missense_R1521W,Missense_R1120W exm279044 2 238275771 [A/G] NM_004369,NM_057167,NM_057166 COL6A3,COL6A3,COL6A3 EXON Missense_P1687S,Missense_P1481S,Missense_P1080S exm279050 2 238275918 [T/C] NM_004369,NM_057167,NM_057166 COL6A3,COL6A3,COL6A3 EXON Missense_A1638T,Missense_A1432T,Missense_A1031T exm279051 2 238277211 [T/C] NM_004369,NM_057167,NM_057166 COL6A3,COL6A3,COL6A3 EXON Missense_R1632Q,Missense_R1426Q,Missense_R1025Q exm279053 2 238277218 [A/G] NM_004369,NM_057167,NM_057166 COL6A3,COL6A3,COL6A3 EXON Missense_P1630S,Missense_P1424S,Missense_P1023S exm279056 2 238277257 [C/G] NM_004369,NM_057167,NM_057166 COL6A3,COL6A3,COL6A3 EXON Missense_A1617P,Missense_A1411P,Missense_A1010P exm279062 2 238277379 [T/C] NM_004369,NM_057167,NM_057166 COL6A3,COL6A3,COL6A3 EXON Missense_R1576Q,Missense_R1370Q,Missense_R969Q exm2009936 2 238277596 [A/G] NM_004369,NM_057167,NM_057166 COL6A3,COL6A3,COL6A3 EXON Missense_R1504W,Missense_R1298W,Missense_R897W exm279085 2 238277707 [T/C] NM_004369,NM_057167,NM_057166 COL6A3,COL6A3,COL6A3 EXON Missense_N1467D,Missense_N1261D,Missense_N860D exm279086 2 238277715 [T/C] NM_004369,NM_057167,NM_057166 COL6A3,COL6A3,COL6A3 EXON Missense_R1464Q,Missense_R1258Q,Missense_R857Q exm279096 2 238280366 [T/C] NM_004369,NM_057167,NM_057166,NM_057164,NM_057165 COL6A3,COL6A3,COL6A3,COL6A3,COL6A3 EXON Silent,Silent,Silent,Missense_G1025R,Missense_G1226R exm279103 2 238280443 [A/G] NM_004369,NM_057167,NM_057166,NM_057164,NM_057165 COL6A3,COL6A3,COL6A3,COL6A3,COL6A3 EXON Missense_T1406M,Missense_T1200M,Missense_T799M,Missense_T999M,Missense_T1200M exm279105 2 238280476 [T/C] NM_004369,NM_057167,NM_057166,NM_057164,NM_057165 COL6A3,COL6A3,COL6A3,COL6A3,COL6A3 EXON Missense_R1395Q,Missense_R1189Q,Missense_R788Q,Missense_R988Q,Missense_R1189Q exm279106 2 238280477 [A/G] NM_004369,NM_057167,NM_057166,NM_057164,NM_057165 COL6A3,COL6A3,COL6A3,COL6A3,COL6A3 EXON Missense_R1395W,Missense_R1189W,Missense_R788W,Missense_R988W,Missense_R1189W exm279107 2 238280491 [A/G] NM_004369,NM_057167,NM_057166,NM_057164,NM_057165 COL6A3,COL6A3,COL6A3,COL6A3,COL6A3 EXON Missense_S1390L,Missense_S1184L,Missense_S783L,Missense_S983L,Missense_S1184L exm279108 2 238280504 [T/C] NM_004369,NM_057167,NM_057166,NM_057164,NM_057165 COL6A3,COL6A3,COL6A3,COL6A3,COL6A3 EXON Missense_E1386K,Missense_E1180K,Missense_E779K,Missense_E979K,Missense_E1180K exm279111 2 238280543 [T/C] NM_004369,NM_057167,NM_057166,NM_057164,NM_057165 COL6A3,COL6A3,COL6A3,COL6A3,COL6A3 EXON Missense_A1373T,Missense_A1167T,Missense_A766T,Missense_A966T,Missense_A1167T exm279114 2 238280557 [A/G] NM_004369,NM_057167,NM_057166,NM_057164,NM_057165 COL6A3,COL6A3,COL6A3,COL6A3,COL6A3 EXON Missense_T1368M,Missense_T1162M,Missense_T761M,Missense_T961M,Missense_T1162M exm279116 2 238280570 [T/C] NM_004369,NM_057167,NM_057166,NM_057164,NM_057165 COL6A3,COL6A3,COL6A3,COL6A3,COL6A3 EXON Missense_V1364M,Missense_V1158M,Missense_V757M,Missense_V957M,Missense_V1158M exm279125 2 238280654 [T/C] NM_004369,NM_057167,NM_057166,NM_057164,NM_057165 COL6A3,COL6A3,COL6A3,COL6A3,COL6A3 EXON Missense_V1336I,Missense_V1130I,Missense_V729I,Missense_V929I,Missense_V1130I exm279134 2 238280758 [T/C] NM_004369,NM_057167,NM_057166,NM_057164,NM_057165 COL6A3,COL6A3,COL6A3,COL6A3,COL6A3 EXON Missense_R1301Q,Missense_R1095Q,Missense_R694Q,Missense_R894Q,Missense_R1095Q exm279150 2 238280905 [T/C] NM_004369,NM_057167,NM_057166,NM_057164,NM_057165 COL6A3,COL6A3,COL6A3,COL6A3,COL6A3 EXON Missense_R1252H,Missense_R1046H,Missense_R645H,Missense_R845H,Missense_R1046H exm279151 2 238280909 [T/C] NM_004369,NM_057167,NM_057166,NM_057164,NM_057165 COL6A3,COL6A3,COL6A3,COL6A3,COL6A3 EXON Missense_V1251I,Missense_V1045I,Missense_V644I,Missense_V844I,Missense_V1045I exm279159 2 238283083 [A/C] NM_004369,NM_057167,NM_057166,NM_057164,NM_057165 COL6A3,COL6A3,COL6A3,COL6A3,COL6A3 EXON Missense_Q1217H,Missense_Q1011H,Missense_Q610H,Missense_Q810H,Missense_Q1011H exm279174 2 238283288 [T/C] NM_004369,NM_057167,NM_057166,NM_057164,NM_057165 COL6A3,COL6A3,COL6A3,COL6A3,COL6A3 EXON Missense_R1149Q,Missense_R943Q,Missense_R542Q,Missense_R742Q,Missense_R943Q exm279175 2 238283289 [A/G] NM_004369,NM_057167,NM_057166,NM_057164,NM_057165 COL6A3,COL6A3,COL6A3,COL6A3,COL6A3 EXON Missense_R1149W,Missense_R943W,Missense_R542W,Missense_R742W,Missense_R943W exm279178 2 238283315 [A/G] NM_004369,NM_057167,NM_057166,NM_057164,NM_057165 COL6A3,COL6A3,COL6A3,COL6A3,COL6A3 EXON Missense_T1140M,Missense_T934M,Missense_T533M,Missense_T733M,Missense_T934M exm2009954 2 238283448 [A/G] NM_004369,NM_057167,NM_057166,NM_057164,NM_057165 COL6A3,COL6A3,COL6A3,COL6A3,COL6A3 EXON Missense_R1096C,Missense_R890C,Missense_R489C,Missense_R689C,Missense_R890C exm279186 2 238283472 [T/G] NM_004369,NM_057167,NM_057166,NM_057164,NM_057165 COL6A3,COL6A3,COL6A3,COL6A3,COL6A3 EXON Missense_K1088Q,Missense_K882Q,Missense_K481Q,Missense_K681Q,Missense_K882Q exm279189 2 238283511 [A/G] NM_004369,NM_057167,NM_057166,NM_057164,NM_057165 COL6A3,COL6A3,COL6A3,COL6A3,COL6A3 EXON Missense_R1075W,Missense_R869W,Missense_R468W,Missense_R668W,Missense_R869W exm2009956 2 238283529 [T/C] NM_004369,NM_057167,NM_057166,NM_057164,NM_057165 COL6A3,COL6A3,COL6A3,COL6A3,COL6A3 EXON Missense_V1069M,Missense_V863M,Missense_V462M,Missense_V662M,Missense_V863M exm279190 2 238283535 [T/C] NM_004369,NM_057167,NM_057166,NM_057164,NM_057165 COL6A3,COL6A3,COL6A3,COL6A3,COL6A3 EXON Missense_V1067M,Missense_V861M,Missense_V460M,Missense_V660M,Missense_V861M exm2237343 2 238283646 [T/C] NM_004369,NM_057167,NM_057166,NM_057164,NM_057165 COL6A3,COL6A3,COL6A3,COL6A3,COL6A3 EXON Missense_V1030M,Missense_V824M,Missense_V423M,Missense_V623M,Missense_V824M exm279199 2 238285445 [T/C] NM_004369,NM_057167,NM_057166,NM_057164,NM_057165 COL6A3,COL6A3,COL6A3,COL6A3,COL6A3 EXON Missense_K1014E,Missense_K808E,Missense_K407E,Missense_K607E,Missense_K808E exm279204 2 238285526 [T/C] NM_004369,NM_057167,NM_057166,NM_057164,NM_057165 COL6A3,COL6A3,COL6A3,COL6A3,COL6A3 EXON Missense_V987M,Missense_V781M,Missense_V380M,Missense_V580M,Missense_V781M exm2277225 2 238285918 [T/C] NM_004369,NM_057167,NM_057166,NM_057164,NM_057165 COL6A3,COL6A3,COL6A3,COL6A3,COL6A3 EXON Missense_R856H,Missense_R650H,Missense_R249H,Missense_R449H,Missense_R650H exm279229 2 238287357 [T/C] NM_004369,NM_057167,NM_057166,NM_057164,NM_057165 COL6A3,COL6A3,COL6A3,COL6A3,COL6A3 EXON Missense_A807T,Missense_A601T,Silent,Missense_A400T,Missense_A601T exm279240 2 238287510 [T/C] NM_004369,NM_057167,NM_057166,NM_057164,NM_057165 COL6A3,COL6A3,COL6A3,COL6A3,COL6A3 EXON Missense_E756K,Missense_E550K,Silent,Missense_E349K,Missense_E550K exm279242 2 238287545 [A/G] NM_004369,NM_057167,NM_057166,NM_057164,NM_057165 COL6A3,COL6A3,COL6A3,COL6A3,COL6A3 EXON Missense_P744L,Missense_P538L,Silent,Missense_P337L,Missense_P538L exm279264 2 238287800 [T/C] NM_004369,NM_057167,NM_057166,NM_057164,NM_057165 COL6A3,COL6A3,COL6A3,COL6A3,COL6A3 EXON Missense_R659H,Missense_R453H,Silent,Missense_R252H,Missense_R453H exm279265 2 238287801 [A/G] NM_004369,NM_057167,NM_057166,NM_057164,NM_057165 COL6A3,COL6A3,COL6A3,COL6A3,COL6A3 EXON Missense_R659C,Missense_R453C,Silent,Missense_R252C,Missense_R453C exm279266 2 238287815 [T/C] NM_004369,NM_057167,NM_057166,NM_057164,NM_057165 COL6A3,COL6A3,COL6A3,COL6A3,COL6A3 EXON Missense_N654S,Missense_N448S,Silent,Missense_N247S,Missense_N448S exm279274 2 238289629 [T/C] NM_004369,NM_057167,NM_057166,NM_057164,NM_057165 COL6A3,COL6A3,COL6A3,COL6A3,COL6A3 EXON Missense_R609Q,Missense_R403Q,Missense_R202Q,Missense_R202Q,Missense_R403Q exm2009977 2 238289664 [A/G] NM_004369,NM_057167,NM_057166,NM_057164,NM_057165 COL6A3,COL6A3,COL6A3,COL6A3,COL6A3 EXON Synonymous_F597F,Synonymous_F391F,Synonymous_F190F,Synonymous_F190F,Synonymous_F391F exm279276 2 238289669 [A/C] NM_004369,NM_057167,NM_057166,NM_057164,NM_057165 COL6A3,COL6A3,COL6A3,COL6A3,COL6A3 EXON Missense_A596S,Missense_A390S,Missense_A189S,Missense_A189S,Missense_A390S exm279280 2 238289767 [T/C] NM_004369,NM_057167,NM_057166,NM_057164,NM_057165 COL6A3,COL6A3,COL6A3,COL6A3,COL6A3 EXON Missense_D563G,Missense_D357G,Missense_D156G,Missense_D156G,Missense_D357G exm279285 2 238289842 [A/G] NM_004369,NM_057167,NM_057166,NM_057164,NM_057165 COL6A3,COL6A3,COL6A3,COL6A3,COL6A3 EXON Missense_T538M,Missense_T332M,Missense_T131M,Missense_T131M,Missense_T332M exm2237347 2 238289893 [A/G] NM_004369,NM_057167,NM_057166,NM_057164,NM_057165 COL6A3,COL6A3,COL6A3,COL6A3,COL6A3 EXON Missense_S521L,Missense_S315L,Missense_S114L,Missense_S114L,Missense_S315L exm279291 2 238289917 [T/C] NM_004369,NM_057167,NM_057166,NM_057164,NM_057165 COL6A3,COL6A3,COL6A3,COL6A3,COL6A3 EXON Missense_R513Q,Missense_R307Q,Missense_R106Q,Missense_R106Q,Missense_R307Q exm279295 2 238289977 [A/G] NM_004369,NM_057167,NM_057166,NM_057164,NM_057165 COL6A3,COL6A3,COL6A3,COL6A3,COL6A3 EXON Missense_V493A,Missense_V287A,Missense_V86A,Missense_V86A,Missense_V287A exm279302 2 238290070 [T/C] NM_004369,NM_057167,NM_057166,NM_057164,NM_057165 COL6A3,COL6A3,COL6A3,COL6A3,COL6A3 EXON Missense_N462S,Missense_N256S,Missense_N55S,Missense_N55S,Missense_N256S exm2009985 2 238296273 [T/C] NM_004369,NM_057167,NM_057166,NM_057164,NM_057165 COL6A3,COL6A3,COL6A3,COL6A3,COL6A3 EXON Missense_V422M,Missense_V216M,Silent,Silent,Missense_V216M exm279313 2 238296306 [C/G] NM_004369,NM_057167,NM_057166,NM_057164,NM_057165 COL6A3,COL6A3,COL6A3,COL6A3,COL6A3 EXON Missense_L411V,Missense_L205V,Silent,Silent,Missense_L205V exm279314 2 238296309 [T/C] NM_004369,NM_057167,NM_057166,NM_057164,NM_057165 COL6A3,COL6A3,COL6A3,COL6A3,COL6A3 EXON Missense_D410N,Missense_D204N,Silent,Silent,Missense_D204N exm279315 2 238296323 [A/G] NM_004369,NM_057167,NM_057166,NM_057164,NM_057165 COL6A3,COL6A3,COL6A3,COL6A3,COL6A3 EXON Missense_F405S,Missense_F199S,Silent,Silent,Missense_F199S exm279330 2 238296513 [T/C] NM_004369,NM_057167,NM_057166,NM_057164,NM_057165 COL6A3,COL6A3,COL6A3,COL6A3,COL6A3 EXON Missense_V342M,Missense_V136M,Silent,Silent,Missense_V136M exm279332 2 238296531 [A/G] NM_004369,NM_057167,NM_057166,NM_057164,NM_057165 COL6A3,COL6A3,COL6A3,COL6A3,COL6A3 EXON Missense_R336W,Missense_R130W,Silent,Silent,Missense_R130W exm279340 2 238296675 [T/C] NM_004369,NM_057167,NM_057166,NM_057164,NM_057165 COL6A3,COL6A3,COL6A3,COL6A3,COL6A3 EXON Missense_D288N,Missense_D82N,Silent,Silent,Missense_D82N exm279346 2 238296761 [A/G] NM_004369,NM_057167,NM_057166,NM_057164,NM_057165 COL6A3,COL6A3,COL6A3,COL6A3,COL6A3 EXON Missense_A259V,Missense_A53V,Silent,Silent,Missense_A53V exm279347 2 238296762 [T/C] NM_004369,NM_057167,NM_057166,NM_057164,NM_057165 COL6A3,COL6A3,COL6A3,COL6A3,COL6A3 EXON Missense_A259T,Missense_A53T,Silent,Silent,Missense_A53T exm279351 2 238296807 [T/C] NM_004369,NM_057167,NM_057166,NM_057164,NM_057165 COL6A3,COL6A3,COL6A3,COL6A3,COL6A3 EXON Missense_I244V,Missense_I38V,Silent,Silent,Missense_I38V exm2273878 2 238303473 [A/C] NM_004369,NM_057167,NM_057166,NM_057164,NM_057165 COL6A3,COL6A3,COL6A3,COL6A3,COL6A3 EXON Missense_D156Y,Silent,Silent,Silent,Silent exm279364 2 238303478 [A/G] NM_004369,NM_057167,NM_057166,NM_057164,NM_057165 COL6A3,COL6A3,COL6A3,COL6A3,COL6A3 EXON Missense_S154L,Silent,Silent,Silent,Silent exm279370 2 238303530 [A/G] NM_004369,NM_057167,NM_057166,NM_057164,NM_057165 COL6A3,COL6A3,COL6A3,COL6A3,COL6A3 EXON Missense_R137W,Silent,Silent,Silent,Silent exm2009999 2 238303647 [T/A] NM_004369,NM_057167,NM_057166,NM_057164,NM_057165 COL6A3,COL6A3,COL6A3,COL6A3,COL6A3 EXON Missense_T98S,Silent,Silent,Silent,Silent exm279375 2 238303679 [C/G] NM_004369,NM_057167,NM_057166,NM_057164,NM_057165 COL6A3,COL6A3,COL6A3,COL6A3,COL6A3 EXON Missense_P87R,Silent,Silent,Silent,Silent exm2237350 2 238303764 [A/G] NM_004369,NM_057167,NM_057166,NM_057164,NM_057165 COL6A3,COL6A3,COL6A3,COL6A3,COL6A3 EXON Nonsense_R59X,Silent,Silent,Silent,Silent exm2269382 2 238336802 [T/C] exm279402 2 238402166 [A/G] NM_001042467,NM_024101 MLPH,MLPH EXON Missense_E33K,Missense_E33K exm279413 2 238419321 [A/G] NM_001042467,NM_024101 MLPH,MLPH EXON Missense_Q72R,Missense_Q72R exm279415 2 238419398 [A/G] NM_001042467,NM_024101 MLPH,MLPH EXON Missense_E98K,Missense_E98K exm279422 2 238419645 [A/G] NM_001042467,NM_024101 MLPH,MLPH EXON Missense_G116S,Missense_G116S exm279426 2 238419714 [T/C] NM_001042467,NM_024101 MLPH,MLPH EXON Missense_R139W,Missense_R139W exm279428 2 238419729 [T/C] NM_001042467,NM_024101 MLPH,MLPH EXON Missense_R144W,Missense_R144W exm279431 2 238427194 [T/C] NM_001042467,NM_024101 MLPH,MLPH EXON Missense_L153P,Missense_L153P exm279432 2 238427215 [A/G] NM_001042467,NM_024101 MLPH,MLPH EXON Missense_G160E,Missense_G160E exm279433 2 238427223 [A/G] NM_001042467,NM_024101 MLPH,MLPH EXON Missense_D163N,Missense_D163N exm279436 2 238427251 [A/G] NM_001042467,NM_024101 MLPH,MLPH EXON Missense_G172D,Missense_G172D exm2273879 2 238427266 [T/C] NM_001042467,NM_024101 MLPH,MLPH EXON Missense_A177V,Missense_A177V exm279455 2 238434379 [A/G] NM_001042467,NM_024101 MLPH,MLPH EXON Missense_G271S,Missense_G271S exm279458 2 238434434 [T/C] NM_001042467,NM_024101 MLPH,MLPH EXON Missense_T289I,Missense_T289I exm279465 2 238436131 [A/G] NM_001042467,NM_024101 MLPH,MLPH EXON Missense_R331Q,Missense_R331Q exm279471 2 238443207 [T/A] NM_001042467,NM_024101 MLPH,MLPH EXON Silent,Missense_I341F exm279472 2 238443226 [A/G] NM_001042467,NM_024101 MLPH,MLPH EXON Silent,Missense_H347R exm279473 2 238449007 [T/C] NM_001042467,NM_024101 MLPH,MLPH EXON Missense_V346A,Missense_V374A exm279475 2 238449057 [A/G] NM_001042467,NM_024101 MLPH,MLPH EXON Missense_E363K,Missense_E391K exm279476 2 238449058 [T/A] NM_001042467,NM_024101 MLPH,MLPH EXON Missense_E363V,Missense_E391V exm279480 2 238449108 [T/G] NM_001042467,NM_024101 MLPH,MLPH EXON Missense_A380S,Missense_A408S exm279491 2 238449598 [A/G] NM_001042467,NM_024101 MLPH,MLPH EXON Missense_E454K,Missense_E482K exm279498 2 238451271 [T/C] NM_001042467,NM_024101 MLPH,MLPH EXON Missense_S475L,Missense_S503L exm279505 2 238455318 [A/G] NM_001042467,NM_024101 MLPH,MLPH EXON Missense_E509K,Missense_E537K exm279508 2 238457913 [A/G] NM_001042467,NM_024101 MLPH,MLPH EXON Missense_K528R,Missense_K556R exm279512 2 238461048 [A/G] NM_001042467,NM_024101 MLPH,MLPH EXON Missense_A554T,Missense_A582T exm279525 2 238475232 [T/G] NM_015893 PRLH EXON Missense_A6S exm279526 2 238475250 [A/C] NM_015893 PRLH EXON Missense_L12M exm2237356 2 238475278 [G/C] NM_015893 PRLH EXON Missense_A21G exm279532 2 238475690 [A/G] NM_015893 PRLH EXON Missense_G46R exm279553 2 238483729 [A/G] NM_022449,NR_033308 RAB17,RAB17 EXON Missense_L191P,Silent exm279558 2 238483751 [T/C] NM_022449,NR_033308 RAB17,RAB17 EXON Missense_S184G,Silent exm279562 2 238484068 [T/C] NM_022449,NR_033308 RAB17,RAB17 EXON Missense_K164R,Silent exm279573 2 238485934 [A/G] NM_022449,NR_033308 RAB17,RAB17 EXON Missense_T134M,Silent exm279575 2 238485990 [G/C] NM_022449,NR_033308 RAB17,RAB17 EXON Missense_D115E,Silent exm279580 2 238486675 [A/G] NM_022449,NR_033308 RAB17,RAB17 EXON Missense_A94V,Silent exm279581 2 238486709 [T/C] NM_022449,NR_033308 RAB17,RAB17 EXON Missense_V83I,Silent exm2010210 2 238486729 [T/C] NM_022449,NR_033308 RAB17,RAB17 EXON Missense_G76D,Silent exm279596 2 238494719 [T/A] NM_022449,NR_033308 RAB17,RAB17 EXON Missense_S27C,Silent exm279598 2 238494742 [A/G] NM_022449,NR_033308 RAB17,RAB17 EXON Missense_V19A,Silent exm279637 2 238628188 [A/G] NM_001137550,NM_001137551,NM_001137553,NM_001137552,NM_004735 LRRFIP1,LRRFIP1,LRRFIP1,LRRFIP1,LRRFIP1 EXON Missense_R91H,Silent,Silent,Missense_R59H,Missense_R59H exm279656 2 238632224 [A/G] NM_001137550,NM_001137551,NM_001137553,NM_001137552,NM_004735 LRRFIP1,LRRFIP1,LRRFIP1,LRRFIP1,LRRFIP1 EXON Missense_A127T,Silent,Silent,Silent,Silent exm279663 2 238642460 [T/G] NM_001137550,NM_001137551,NM_001137553,NM_001137552,NM_004735 LRRFIP1,LRRFIP1,LRRFIP1,LRRFIP1,LRRFIP1 EXON Missense_R163L,Silent,Silent,Silent,Silent exm279670 2 238643972 [A/G] NM_001137550,NM_001137551,NM_001137553,NM_001137552,NM_004735 LRRFIP1,LRRFIP1,LRRFIP1,LRRFIP1,LRRFIP1 EXON Missense_R184H,Silent,Silent,Silent,Silent exm2010351 2 238661983 [A/G] NM_001137550,NM_001137551,NM_001137553,NM_001137552,NM_004735 LRRFIP1,LRRFIP1,LRRFIP1,LRRFIP1,LRRFIP1 EXON Missense_K300R,Missense_K116R,Missense_K116R,Missense_K172R,Missense_K148R exm279703 2 238664765 [A/C] NM_001137550,NM_001137551,NM_001137553,NM_001137552,NM_004735 LRRFIP1,LRRFIP1,LRRFIP1,LRRFIP1,LRRFIP1 EXON Missense_S356R,Missense_S172R,Missense_S172R,Missense_S228R,Missense_S204R exm279711 2 238668716 [A/G] NM_001137550,NM_001137551,NM_001137553,NM_001137552,NM_004735 LRRFIP1,LRRFIP1,LRRFIP1,LRRFIP1,LRRFIP1 EXON Missense_I443V,Missense_I197V,Missense_I197V,Missense_I253V,Missense_I229V exm279712 2 238668732 [A/G] NM_001137550,NM_001137551,NM_001137553,NM_001137552,NM_004735 LRRFIP1,LRRFIP1,LRRFIP1,LRRFIP1,LRRFIP1 EXON Missense_E448G,Missense_E202G,Missense_E202G,Missense_E258G,Missense_E234G exm279714 2 238668783 [A/G] NM_001137550,NM_001137551,NM_001137553,NM_001137552,NM_004735 LRRFIP1,LRRFIP1,LRRFIP1,LRRFIP1,LRRFIP1 EXON Missense_Q465R,Missense_Q219R,Missense_Q219R,Missense_Q275R,Missense_Q251R exm279728 2 238671536 [A/G] NM_001137550,NM_001137551,NM_001137553,NM_001137552,NM_004735 LRRFIP1,LRRFIP1,LRRFIP1,LRRFIP1,LRRFIP1 EXON Silent,Silent,Missense_M338V,Missense_M394V,Missense_M370V exm2010369 2 238671636 [A/C] NM_001137550,NM_001137551,NM_001137553,NM_001137552,NM_004735 LRRFIP1,LRRFIP1,LRRFIP1,LRRFIP1,LRRFIP1 EXON Silent,Silent,Missense_A371E,Missense_A427E,Missense_A403E exm279736 2 238671755 [A/G] NM_001137550,NM_001137551,NM_001137553,NM_001137552,NM_004735 LRRFIP1,LRRFIP1,LRRFIP1,LRRFIP1,LRRFIP1 EXON Silent,Silent,Missense_S411G,Missense_S467G,Missense_S443G exm279738 2 238671853 [C/G] NM_001137550,NM_001137551,NM_001137553,NM_001137552,NM_004735 LRRFIP1,LRRFIP1,LRRFIP1,LRRFIP1,LRRFIP1 EXON Silent,Silent,Missense_N443K,Missense_N499K,Missense_N475K exm279744 2 238671992 [G/C] NM_001137550,NM_001137551,NM_001137553,NM_001137552,NM_004735 LRRFIP1,LRRFIP1,LRRFIP1,LRRFIP1,LRRFIP1 EXON Silent,Silent,Missense_D490H,Missense_D546H,Missense_D522H exm279760 2 238672290 [T/C] NM_001137550,NM_001137551,NM_001137553,NM_001137552,NM_004735 LRRFIP1,LRRFIP1,LRRFIP1,LRRFIP1,LRRFIP1 EXON Silent,Silent,Missense_P589L,Missense_P645L,Missense_P621L exm279768 2 238672422 [T/C] NM_001137550,NM_001137551,NM_001137553,NM_001137552,NM_004735 LRRFIP1,LRRFIP1,LRRFIP1,LRRFIP1,LRRFIP1 EXON Silent,Silent,Missense_P633L,Missense_P689L,Missense_P665L exm279769 2 238672425 [C/G] NM_001137550,NM_001137551,NM_001137553,NM_001137552,NM_004735 LRRFIP1,LRRFIP1,LRRFIP1,LRRFIP1,LRRFIP1 EXON Silent,Silent,Missense_R634T,Missense_R690T,Missense_R666T exm279773 2 238672523 [A/G] NM_001137550,NM_001137551,NM_001137553,NM_001137552,NM_004735 LRRFIP1,LRRFIP1,LRRFIP1,LRRFIP1,LRRFIP1 EXON Silent,Silent,Missense_A667T,Missense_A723T,Missense_A699T exm279776 2 238672557 [T/C] NM_001137550,NM_001137551,NM_001137553,NM_001137552,NM_004735 LRRFIP1,LRRFIP1,LRRFIP1,LRRFIP1,LRRFIP1 EXON Silent,Silent,Missense_P678L,Missense_P734L,Missense_P710L exm279779 2 238672598 [A/G] NM_001137550,NM_001137551,NM_001137553,NM_001137552,NM_004735 LRRFIP1,LRRFIP1,LRRFIP1,LRRFIP1,LRRFIP1 EXON Silent,Silent,Missense_E692K,Missense_E748K,Missense_E724K exm279784 2 238672691 [A/G] NM_001137550,NM_001137551,NM_001137553,NM_001137552,NM_004735 LRRFIP1,LRRFIP1,LRRFIP1,LRRFIP1,LRRFIP1 EXON Silent,Silent,Missense_R723G,Missense_R779G,Missense_R755G exm279785 2 238672703 [G/C] NM_001137550,NM_001137551,NM_001137553,NM_001137552,NM_004735 LRRFIP1,LRRFIP1,LRRFIP1,LRRFIP1,LRRFIP1 EXON Silent,Silent,Missense_H727D,Missense_H783D,Missense_H759D exm279793 2 238678616 [A/G] NM_001137550,NM_001137551 LRRFIP1,LRRFIP1 EXON Missense_R497Q,Missense_R251Q exm279794 2 238678622 [A/G] NM_001137550,NM_001137551 LRRFIP1,LRRFIP1 EXON Missense_C499Y,Missense_C253Y exm279795 2 238678627 [A/T] NM_001137550,NM_001137551 LRRFIP1,LRRFIP1 EXON Missense_L501M,Missense_L255M exm279809 2 238722295 [T/C] NM_001080504 RBM44 EXON Missense_Y16H exm279814 2 238725768 [A/G] NM_001080504 RBM44 EXON Missense_S70N exm279818 2 238725833 [A/G] NM_001080504 RBM44 EXON Missense_S92G exm279820 2 238725962 [A/G] NM_001080504 RBM44 EXON Missense_D135N exm279825 2 238726254 [A/G] NM_001080504 RBM44 EXON Missense_N232S exm279829 2 238726374 [A/G] NM_001080504 RBM44 EXON Missense_R272K exm279833 2 238726475 [A/G] NM_001080504 RBM44 EXON Missense_G306R exm279834 2 238726562 [T/C] NM_001080504 RBM44 EXON Nonsense_Q335X exm279846 2 238726817 [A/G] NM_001080504 RBM44 EXON Missense_R420G exm279847 2 238726827 [A/G] NM_001080504 RBM44 EXON Missense_Q423R exm279855 2 238727136 [T/C] NM_001080504 RBM44 EXON Missense_S526L exm279872 2 238730417 [C/G] NM_001080504 RBM44 EXON Missense_Q719E exm279875 2 238732960 [A/G] NM_001080504 RBM44 EXON Missense_E784K exm2010448 2 238732999 [A/G] NM_001080504 RBM44 EXON Missense_D797N exm279877 2 238733009 [T/G] NM_001080504 RBM44 EXON Missense_G800V exm279882 2 238736077 [A/C] NM_001080504 RBM44 EXON Missense_A845D exm279886 2 238737933 [A/C] NM_001080504 RBM44 EXON Missense_N893H exm2010456 2 238738099 [A/G] NM_001080504 RBM44 EXON Missense_R948Q exm279897 2 238742929 [T/C] NM_001080504 RBM44 EXON Missense_I1015T exm279905 2 238785923 [A/G] NM_005855 RAMP1 EXON Missense_R37Q exm2265290 2 238795602 [A/G] NM_005855 RAMP1 Silent exm279913 2 238820189 [A/G] NM_005855 RAMP1 EXON Missense_D71N exm279925 2 238820345 [A/G] NM_005855 RAMP1 EXON Missense_I123V exm279929 2 238820379 [T/C] NM_005855 RAMP1 EXON Missense_T134M exm279933 2 238820408 [T/A] NM_005855 RAMP1 EXON Missense_T144S exm279966 2 238881783 [A/G] NM_080678,NR_037904 UBE2F,UBE2F-SCLY EXON Missense_D12N,Silent exm279971 2 238881817 [T/C] NM_080678,NR_037904 UBE2F,UBE2F-SCLY EXON Missense_A23V,Silent exm280005 2 238973062 [A/G] NR_037904,NM_016510 UBE2F-SCLY,SCLY EXON Silent,Missense_K60E exm280007 2 238976708 [A/G] NR_037904,NM_016510 UBE2F-SCLY,SCLY EXON Silent,Missense_R77G exm280011 2 238976761 [A/G] NR_037904,NM_016510 UBE2F-SCLY,SCLY EXON Silent,Missense_I94M exm280022 2 238990350 [T/C] NR_037904,NM_016510 UBE2F-SCLY,SCLY EXON Silent,Missense_A170V exm280024 2 238990382 [A/G] NR_037904,NM_016510 UBE2F-SCLY,SCLY EXON Silent,Missense_G181R exm280025 2 238990388 [A/G] NR_037904,NM_016510 UBE2F-SCLY,SCLY EXON Silent,Missense_A183T exm280038 2 238990716 [T/G] NR_037904,NM_016510 UBE2F-SCLY,SCLY EXON Silent,Missense_A223S exm280054 2 238991938 [T/C] NR_037904,NM_016510 UBE2F-SCLY,SCLY EXON Silent,Missense_F284S exm280057 2 238999875 [A/G] NR_037904,NM_016510 UBE2F-SCLY,SCLY EXON Silent,Missense_M309V exm280065 2 239002506 [T/C] NR_037904,NM_016510 UBE2F-SCLY,SCLY EXON Silent,Missense_A317V exm280068 2 239002556 [A/G] NR_037904,NM_016510 UBE2F-SCLY,SCLY EXON Silent,Missense_V334I exm280086 2 239005510 [A/G] NR_037904,NM_016510 UBE2F-SCLY,SCLY EXON Silent,Missense_G401R exm280099 2 239006974 [T/C] NR_037904,NM_016510 UBE2F-SCLY,SCLY EXON Silent,Missense_A447V exm280107 2 239009074 [A/G] NM_194312 ESPNL EXON Missense_R5Q exm280109 2 239009082 [A/G] NM_194312 ESPNL EXON Missense_V8M exm280112 2 239009118 [T/C] NM_194312 ESPNL EXON Missense_R20W exm280118 2 239009247 [A/G] NM_194312 ESPNL EXON Missense_G63S exm280119 2 239009256 [T/C] NM_194312 ESPNL EXON Missense_R66W exm280138 2 239010673 [T/C] NM_194312 ESPNL EXON Missense_S129L exm280148 2 239010720 [A/G] NM_194312 ESPNL EXON Missense_A145T exm280152 2 239013311 [A/G] NM_194312 ESPNL EXON Missense_R167Q exm280153 2 239013325 [A/G] NM_194312 ESPNL EXON Missense_A172T exm280155 2 239013338 [A/C] NM_194312 ESPNL EXON Missense_Y176S exm280161 2 239013429 [A/G] NM_194312 ESPNL EXON Missense_M206I exm280168 2 239013472 [A/G] NM_194312 ESPNL EXON Missense_V221I exm280170 2 239016440 [C/G] NM_194312 ESPNL EXON Missense_F227L exm280172 2 239016473 [A/G] NM_194312 ESPNL EXON Synonymous_E238E exm280173 2 239016474 [C/G] NM_194312 ESPNL EXON Missense_G239R exm280180 2 239016514 [T/C] NM_194312 ESPNL EXON Missense_T252M exm280181 2 239016528 [T/C] NM_194312 ESPNL EXON Nonsense_R257X exm280219 2 239038829 [C/G] NM_194312 ESPNL EXON Missense_Q492E exm2273881 2 239038877 [G/C] NM_194312 ESPNL EXON Missense_V508L exm280225 2 239038917 [A/G] NM_194312 ESPNL EXON Missense_R521H exm280233 2 239039033 [A/G] NM_194312 ESPNL EXON Missense_G560R exm280242 2 239039130 [T/G] NM_194312 ESPNL EXON Missense_W592L exm280244 2 239039148 [A/G] NM_194312 ESPNL EXON Missense_R598H exm280247 2 239039163 [T/C] NM_194312 ESPNL EXON Missense_L603P exm280260 2 239039312 [T/C] NM_194312 ESPNL EXON Missense_R653W exm280261 2 239039313 [A/G] NM_194312 ESPNL EXON Missense_R653Q exm280275 2 239039637 [T/C] NM_194312 ESPNL EXON Missense_V761A exm280285 2 239039864 [A/G] NM_194312 ESPNL EXON Missense_E837K exm280292 2 239039970 [T/C] NM_194312 ESPNL EXON Missense_A872V exm280294 2 239039981 [A/G] NM_194312 ESPNL EXON Missense_K876E exm2010660 2 239040093 [A/G] NM_194312 ESPNL EXON Missense_R913Q exm280300 2 239040107 [A/G] NM_194312 ESPNL EXON Missense_G918S exm280315 2 239040270 [T/C] NM_194312 ESPNL EXON Missense_S972F exm280328 2 239049528 [T/C] NM_198582 KLHL30 EXON Missense_P45S exm280331 2 239049540 [A/G] NM_198582 KLHL30 EXON Missense_G49S exm280344 2 239049630 [A/G] NM_198582 KLHL30 EXON Missense_V79M exm280345 2 239049642 [A/G] NM_198582 KLHL30 EXON Missense_V83M exm280349 2 239049718 [A/G] NM_198582 KLHL30 EXON Missense_R108H exm280350 2 239049729 [T/C] NM_198582 KLHL30 EXON Missense_R112C exm280354 2 239049871 [A/G] NM_198582 KLHL30 EXON Missense_R159Q exm280358 2 239049928 [A/G] NM_198582 KLHL30 EXON Missense_R178Q exm280371 2 239051453 [T/C] NM_198582 KLHL30 EXON Missense_L263P exm2275645 2 239051536 [A/G] NM_198582 KLHL30 EXON Missense_G291S exm280382 2 239053600 [T/C] NM_198582 KLHL30 EXON Missense_A322V exm280383 2 239053606 [T/A] NM_198582 KLHL30 EXON Missense_L324Q exm280389 2 239054441 [T/C] NM_198582 KLHL30 EXON Missense_A373V exm280394 2 239056505 [A/G] NM_198582 KLHL30 EXON Missense_S394N exm280403 2 239056591 [T/C] NM_198582 KLHL30 EXON Missense_R423W exm280404 2 239056592 [A/G] NM_198582 KLHL30 EXON Missense_R423Q exm280419 2 239059582 [T/C] NM_198582 KLHL30 EXON Missense_T538M exm280457 2 239082181 [T/C] NM_030768 ILKAP EXON Missense_N317S exm280488 2 239098559 [T/C] NM_030768 ILKAP EXON Missense_K78R exm280490 2 239098594 [T/C] NM_030768 ILKAP EXON Missense_I66M exm280510 2 239147490 [T/C] NM_001142853,NM_018645 HES6,HES6 EXON Missense_R216Q,Missense_R218Q exm280511 2 239147554 [G/C] NM_001142853,NM_018645 HES6,HES6 EXON Missense_P195A,Missense_P197A exm280519 2 239147730 [T/C] NM_001142853,NM_018645 HES6,HES6 EXON Missense_G136D,Missense_G138D exm280539 2 239155053 [T/C] NM_022817 PER2 EXON Missense_G1244E exm280545 2 239155098 [A/G] NM_022817 PER2 EXON Missense_S1229F exm280548 2 239157708 [T/C] NM_022817 PER2 EXON Missense_V1205M exm280553 2 239157734 [A/G] NM_022817 PER2 EXON Missense_T1196M exm280560 2 239159210 [A/G] NM_022817 PER2 EXON Missense_T1150M exm280570 2 239160264 [A/G] NM_022817 PER2 EXON Missense_C1084R exm280580 2 239161582 [A/G] NM_022817 PER2 EXON Missense_R1028W exm280583 2 239161644 [A/G] NM_022817 PER2 EXON Missense_M1007T exm280589 2 239161728 [A/G] NM_022817 PER2 EXON Missense_P979L exm280591 2 239161767 [T/C] NM_022817 PER2 EXON Missense_R966Q exm280599 2 239161818 [T/A] NM_022817 PER2 EXON Missense_F949Y exm280604 2 239161957 [T/C] NM_022817 PER2 EXON Missense_V903I exm280605 2 239161989 [T/C] NM_022817 PER2 EXON Missense_Q892R exm280607 2 239162038 [A/G] NM_022817 PER2 EXON Missense_F876L exm280613 2 239162082 [A/G] NM_022817 PER2 EXON Missense_A861V exm280614 2 239162134 [A/C] NM_022817 PER2 EXON Missense_V844L exm280622 2 239162230 [T/C] NM_022817 PER2 EXON Missense_G812R exm280624 2 239162250 [T/C] NM_022817 PER2 EXON Missense_R805Q exm280628 2 239164300 [T/C] NM_022817 PER2 EXON Missense_R773Q exm2255179 2 239164344 [A/G] NM_022817 PER2 EXON Synonymous_C758C exm280636 2 239164433 [T/C] NM_022817 PER2 EXON Missense_V729I exm280641 2 239164547 [C/G] NM_022817 PER2 EXON Missense_V691L exm280646 2 239165577 [A/G] NM_022817 PER2 EXON Missense_P684L exm280647 2 239165629 [T/G] NM_022817 PER2 EXON Missense_T667P exm280650 2 239165637 [A/G] NM_022817 PER2 EXON Missense_A664V exm280653 2 239165676 [A/C] NM_022817 PER2 EXON Missense_L651R exm280654 2 239165697 [T/C] NM_022817 PER2 EXON Missense_R644H exm280683 2 239169585 [T/G] NM_022817 PER2 EXON Missense_H476N exm280687 2 239170438 [T/C] NM_022817 PER2 EXON Missense_T450A exm280706 2 239176775 [T/C] NM_022817 PER2 EXON Missense_K297E exm280716 2 239180006 [T/C] NM_022817 PER2 EXON Missense_H240R exm280734 2 239181770 [A/G] NM_022817 PER2 EXON Missense_P171S exm2255180 2 239181810 [T/C] NM_022817 PER2 EXON Synonymous_L157L exm280741 2 239184399 [T/C] NM_022817 PER2 EXON Missense_V145M exm280745 2 239184431 [A/G] NM_022817 PER2 EXON Missense_T134M exm280746 2 239184449 [T/G] NM_022817 PER2 EXON Missense_A128D exm280752 2 239185804 [T/G] NM_022817 PER2 EXON Missense_K87N exm280753 2 239185817 [A/C] NM_022817 PER2 EXON Missense_L83R exm280755 2 239186363 [A/G] NM_022817 PER2 EXON Missense_P72L exm2010925 2 239186487 [T/C] NM_022817 PER2 EXON Missense_D31N exm280784 2 239234520 [T/A] NM_015650,NM_001139490 TRAF3IP1,TRAF3IP1 EXON Missense_L88Q,Missense_L88Q exm280788 2 239237349 [A/G] NM_015650,NM_001139490 TRAF3IP1,TRAF3IP1 EXON Missense_R126Q,Missense_R126Q exm280789 2 239237353 [G/C] NM_015650,NM_001139490 TRAF3IP1,TRAF3IP1 EXON Missense_R127S,Missense_R127S exm280790 2 239237368 [G/C] NM_015650,NM_001139490 TRAF3IP1,TRAF3IP1 EXON Missense_E132D,Missense_E132D exm280791 2 239237388 [A/G] NM_015650,NM_001139490 TRAF3IP1,TRAF3IP1 EXON Missense_R139Q,Missense_R139Q exm280793 2 239237460 [A/G] NM_015650,NM_001139490 TRAF3IP1,TRAF3IP1 EXON Missense_K163R,Missense_K163R exm280803 2 239237751 [A/G] NM_015650,NM_001139490 TRAF3IP1,TRAF3IP1 EXON Missense_N228S,Missense_N228S exm280804 2 239237753 [A/G] NM_015650,NM_001139490 TRAF3IP1,TRAF3IP1 EXON Missense_E229K,Missense_E229K exm280810 2 239237846 [A/G] NM_015650,NM_001139490 TRAF3IP1,TRAF3IP1 EXON Missense_E260K,Missense_E260K exm280815 2 239237879 [T/C] NM_015650,NM_001139490 TRAF3IP1,TRAF3IP1 EXON Missense_R271W,Missense_R271W exm280817 2 239237953 [T/G] NM_015650,NM_001139490 TRAF3IP1,TRAF3IP1 EXON Missense_K295N,Missense_K295N exm280819 2 239237955 [A/C] NM_015650,NM_001139490 TRAF3IP1,TRAF3IP1 EXON Missense_N296T,Missense_N296T exm280831 2 239242652 [T/C] NM_015650,NM_001139490 TRAF3IP1,TRAF3IP1 EXON Missense_R347W,Missense_R347W exm280834 2 239247021 [T/C] NM_015650,NM_001139490 TRAF3IP1,TRAF3IP1 EXON Missense_I361T,Silent exm280835 2 239247029 [A/G] NM_015650,NM_001139490 TRAF3IP1,TRAF3IP1 EXON Missense_K364E,Silent exm280836 2 239247053 [A/G] NM_015650,NM_001139490 TRAF3IP1,TRAF3IP1 EXON Missense_G372R,Silent exm280837 2 239247095 [A/G] NM_015650,NM_001139490 TRAF3IP1,TRAF3IP1 EXON Missense_I386V,Silent exm280843 2 239253198 [A/G] NM_015650,NM_001139490 TRAF3IP1,TRAF3IP1 EXON Missense_R407Q,Silent exm280844 2 239253224 [T/A] NM_015650,NM_001139490 TRAF3IP1,TRAF3IP1 EXON Missense_T416S,Silent exm280847 2 239256112 [T/G] NM_015650,NM_001139490 TRAF3IP1,TRAF3IP1 EXON Missense_D426E,Missense_D360E exm2010957 2 239257480 [T/C] NM_015650,NM_001139490 TRAF3IP1,TRAF3IP1 EXON Missense_S453F,Missense_S387F exm280884 2 239306270 [A/G] NM_015650,NM_001139490 TRAF3IP1,TRAF3IP1 EXON Missense_M620I,Missense_M554I exm2237382 2 239344362 [A/G] NM_001040445 ASB1 EXON Missense_E68K exm280914 2 239344627 [A/G] NM_001040445 ASB1 EXON Missense_R156Q exm2011000 2 239353026 [T/G] NM_001040445 ASB1 EXON Missense_V180F exm2255182 2 239353085 [T/C] NM_001040445 ASB1 EXON Synonymous_S199S exm-IND2-239017906 2 239353168 [D/I] NM_001040445 ASB1 EXON exm280941 2 239355106 [T/C] NM_001040445 ASB1 EXON Missense_S321L exm2261226 2 239417840 [A/G] exm-rs12477314 2 239877148 [T/C] exm-rs10199914 2 239896861 [A/G] exm280958 2 239975166 [T/C] NM_006037 HDAC4 EXON Missense_A1069T exm280966 2 239976475 [A/G] NM_006037 HDAC4 EXON Missense_R1015C exm2273882 2 239976487 [T/C] NM_006037 HDAC4 EXON Missense_A1011T exm280989 2 240002858 [T/C] NM_006037 HDAC4 EXON Missense_V890I exm281000 2 240005877 [T/C] NM_006037 HDAC4 EXON Missense_V831M exm281009 2 240011722 [T/C] NM_006037 HDAC4 EXON Missense_A786T exm281014 2 240016711 [T/C] NM_006037 HDAC4 EXON Missense_V754I exm2237385 2 240016738 [T/C] NM_006037 HDAC4 EXON Missense_V745M exm281058 2 240036792 [A/G] NM_006037 HDAC4 EXON Missense_P578L exm281060 2 240036837 [A/G] NM_006037 HDAC4 EXON Missense_I563T exm281068 2 240036891 [A/G] NM_006037 HDAC4 EXON Missense_P545L exm281069 2 240036897 [T/C] NM_006037 HDAC4 EXON Missense_R543Q exm2237386 2 240048307 [A/T] NM_006037 HDAC4 EXON Nonsense_K455X exm281089 2 240055953 [T/G] NM_006037 HDAC4 EXON Missense_P428T exm281095 2 240056019 [T/C] NM_006037 HDAC4 EXON Missense_G406R exm281099 2 240056067 [T/C] NM_006037 HDAC4 EXON Missense_G390S exm281101 2 240056224 [A/G] NM_006037 HDAC4 EXON Missense_A365V exm281109 2 240061399 [A/G] NM_006037 HDAC4 EXON Missense_V320A exm281110 2 240061400 [T/C] NM_006037 HDAC4 EXON Missense_V320I exm281111 2 240061403 [T/C] NM_006037 HDAC4 EXON Missense_A319T exm281130 2 240078423 [T/C] NM_006037 HDAC4 EXON Missense_G220R exm-rs4852054 2 240279945 [A/G] NM_006037 HDAC4 Silent exm-rs6743931 2 240418660 [A/G] exm2269242 2 240423994 [T/C] exm2269383 2 240435943 [T/C] exm-rs11124220 2 240618118 [A/G] exm281274 2 240944661 [C/G] NM_004544 NDUFA10 EXON Missense_Q286E exm281280 2 240951071 [T/C] NM_004544 NDUFA10 EXON Missense_E238K exm281282 2 240951105 [T/G] NM_004544 NDUFA10 EXON Missense_E226D exm281283 2 240951109 [T/C] NM_004544 NDUFA10 EXON Missense_H225R exm281289 2 240954203 [T/C] NM_004544 NDUFA10 EXON Missense_D208N exm281292 2 240954237 [C/G] NM_004544 NDUFA10 EXON Missense_C196W exm281293 2 240954276 [A/G] NM_004544 NDUFA10 EXON Synonymous_C183C exm281304 2 240960670 [A/G] NM_004544 NDUFA10 EXON Missense_L135S exm281310 2 240961639 [T/C] NM_004544 NDUFA10 EXON Missense_N65S exm281323 2 240969012 [T/C] NM_001005853 OR6B2 EXON Missense_T279A exm281324 2 240969044 [A/T] NM_001005853 OR6B2 EXON Missense_Q268L exm281334 2 240969168 [A/G] NM_001005853 OR6B2 EXON Missense_R227C exm281335 2 240969179 [A/G] NM_001005853 OR6B2 EXON Missense_L223P exm281336 2 240969182 [A/G] NM_001005853 OR6B2 EXON Missense_T222I exm281339 2 240969198 [A/G] NM_001005853 OR6B2 EXON Missense_S217P exm281381 2 240981262 [A/C] NM_001080835 PRR21 EXON Missense_S380A exm281383 2 240981345 [A/C] NM_001080835 PRR21 EXON Missense_S352I exm281387 2 240981375 [T/A] NM_001080835 PRR21 EXON Missense_K342M exm281533 2 240982312 [A/G] NM_001080835 PRR21 EXON Missense_H30Y exm281541 2 240982389 [C/G] NM_001080835 PRR21 EXON Missense_C4S exm281548 2 240984556 [T/C] NM_173351 OR6B3 EXON Missense_V312I exm281550 2 240984559 [T/C] NM_173351 OR6B3 EXON Missense_A311T exm281551 2 240984574 [T/C] NM_173351 OR6B3 EXON Missense_G306S exm281553 2 240984579 [A/G] NM_173351 OR6B3 EXON Missense_A304V exm2273883 2 240984652 [A/C] NM_173351 OR6B3 EXON Missense_V280F exm281556 2 240984660 [A/C] NM_173351 OR6B3 EXON Missense_L277W exm2012040 2 240984709 [A/G] NM_173351 OR6B3 EXON Missense_R261W exm2269384 2 241004414 [T/C] exm2012052 2 241066049 [A/C] NM_138336 MYEOV2 EXON Missense_D230E exm281611 2 241066093 [T/G] NM_138336 MYEOV2 EXON Missense_I216L exm281614 2 241066179 [T/C] NM_138336 MYEOV2 EXON Missense_R187Q exm281616 2 241066201 [T/C] NM_138336 MYEOV2 EXON Missense_G180R exm281619 2 241066272 [A/G] NM_138336 MYEOV2 EXON Missense_M156T exm281625 2 241066300 [T/C] NM_138336 MYEOV2 EXON Missense_G147S exm281636 2 241069399 [T/C] NM_138336 MYEOV2 EXON Missense_A104T exm281638 2 241069401 [G/C] NM_138336 MYEOV2 EXON Missense_P103R exm281641 2 241069437 [C/G] NM_138336 MYEOV2 EXON Missense_G91A exm281644 2 241073351 [A/G] NM_138336,NM_001163424 MYEOV2,MYEOV2 EXON Synonymous_N76N,Synonymous_N45N exm281658 2 241078621 [A/G] NM_148961 OTOS EXON Missense_T79M exm281662 2 241078667 [T/C] NM_148961 OTOS EXON Missense_E64K exm281675 2 241079724 [A/G] NM_148961 OTOS EXON Missense_P7L exm2263931 2 241093031 [A/C] exm-rs1574192 2 241308505 [A/G] exm281741 2 241398543 [T/C] NM_002081 GPC1 EXON Missense_A88V exm281744 2 241398561 [A/G] NM_002081 GPC1 EXON Missense_R94H exm281747 2 241398578 [T/C] NM_002081 GPC1 EXON Missense_L100F exm281756 2 241401661 [T/C] NM_002081 GPC1 EXON Missense_P127S exm281758 2 241401673 [A/G] NM_002081 GPC1 EXON Missense_G131R exm281761 2 241401707 [A/G] NM_002081 GPC1 EXON Missense_R142Q exm281763 2 241401728 [A/G] NM_002081 GPC1 EXON Missense_R149H exm281767 2 241401799 [T/C] NM_002081 GPC1 EXON Missense_R173C exm281770 2 241401875 [T/C] NM_002081 GPC1 EXON Missense_A198V exm281776 2 241401926 [A/G] NM_002081 GPC1 EXON Missense_R215H exm281778 2 241401986 [A/G] NM_002081 GPC1 EXON Missense_R235Q exm281782 2 241402836 [A/G] NM_002081 GPC1 EXON Missense_G264S exm281803 2 241404098 [A/G] NM_002081 GPC1 EXON Missense_V317M exm2012222 2 241404114 [T/C] NM_002081 GPC1 EXON Missense_A322V exm2012229 2 241404342 [A/G] NM_002081 GPC1 EXON Missense_G362S exm281816 2 241404379 [A/C] NM_002081 GPC1 EXON Missense_T374K exm281822 2 241404906 [A/G] NM_002081 GPC1 EXON Missense_M429V exm281841 2 241405501 [A/G] NM_002081 GPC1 EXON Missense_G491S exm281843 2 241405528 [A/G] NM_002081 GPC1 EXON Missense_S500G exm2012237 2 241405532 [A/G] NM_002081 GPC1 EXON Missense_R501Q exm281846 2 241405562 [A/G] NM_002081 GPC1 EXON Missense_R511Q exm281869 2 241421599 [T/C] NM_017844,NM_016552 ANKMY1,ANKMY1 Silent,Silent exm281890 2 241439473 [T/C] NM_017844,NM_016552 ANKMY1,ANKMY1 EXON Missense_R590Q,Missense_R814Q exm281893 2 241439487 [A/C] NM_017844,NM_016552 ANKMY1,ANKMY1 EXON Missense_E585D,Missense_E809D exm281896 2 241439525 [A/G] NM_017844,NM_016552 ANKMY1,ANKMY1 EXON Missense_R573C,Missense_R797C exm281897 2 241439537 [A/G] NM_017844,NM_016552 ANKMY1,ANKMY1 EXON Missense_R569W,Missense_R793W exm281902 2 241439955 [T/C] NM_017844,NM_016552 ANKMY1,ANKMY1 EXON Missense_D539N,Missense_D763N exm281917 2 241448799 [A/G] NM_017844,NM_016552 ANKMY1,ANKMY1 EXON Silent,Missense_P698L exm281925 2 241448854 [A/G] NM_017844,NM_016552 ANKMY1,ANKMY1 EXON Silent,Missense_R680W exm281931 2 241451351 [A/G] NM_017844,NM_016552 ANKMY1,ANKMY1 EXON Silent,Missense_T649M exm281941 2 241452305 [A/C] NM_017844,NM_016552 ANKMY1,ANKMY1 EXON Missense_V457L,Missense_V598L exm281944 2 241452335 [A/T] NM_017844,NM_016552 ANKMY1,ANKMY1 EXON Missense_I447F,Missense_I588F exm281945 2 241459779 [T/C] NM_017844,NM_016552 ANKMY1,ANKMY1 EXON Synonymous_Q438Q,Synonymous_Q579Q exm281952 2 241459876 [A/G] NM_017844,NM_016552 ANKMY1,ANKMY1 EXON Missense_M406T,Missense_M547T exm281960 2 241463317 [A/G] NM_017844,NM_016552 ANKMY1,ANKMY1 EXON Missense_A376V,Missense_A517V exm281970 2 241463399 [A/C] NM_017844,NM_016552 ANKMY1,ANKMY1 EXON Missense_A349S,Missense_A490S exm281972 2 241463420 [A/G] NM_017844,NM_016552 ANKMY1,ANKMY1 EXON Nonsense_Q342X,Nonsense_Q483X exm2237412 2 241463422 [A/G] NM_017844,NM_016552 ANKMY1,ANKMY1 EXON Missense_S341L,Missense_S482L exm281977 2 241463453 [A/C] NM_017844,NM_016552 ANKMY1,ANKMY1 EXON Missense_V331L,Missense_V472L exm281979 2 241463461 [T/C] NM_017844,NM_016552 ANKMY1,ANKMY1 EXON Missense_E328G,Missense_E469G exm281981 2 241463470 [A/G] NM_017844,NM_016552 ANKMY1,ANKMY1 EXON Missense_T325M,Missense_T466M exm281982 2 241463494 [T/C] NM_017844,NM_016552 ANKMY1,ANKMY1 EXON Missense_R317Q,Missense_R458Q exm281983 2 241463495 [A/G] NM_017844,NM_016552 ANKMY1,ANKMY1 EXON Missense_R317W,Missense_R458W exm2273884 2 241463515 [A/T] NM_017844,NM_016552 ANKMY1,ANKMY1 EXON Missense_D310V,Missense_D451V exm281988 2 241463544 [C/G] NM_017844,NM_016552 ANKMY1,ANKMY1 EXON Missense_S300R,Missense_S441R exm281990 2 241463595 [T/C] NM_017844,NM_016552 ANKMY1,ANKMY1 EXON Missense_I283M,Missense_I424M exm281993 2 241463633 [T/C] NM_017844,NM_016552 ANKMY1,ANKMY1 EXON Missense_G271S,Missense_G412S exm281994 2 241463639 [T/C] NM_017844,NM_016552 ANKMY1,ANKMY1 EXON Missense_E269K,Missense_E410K exm281999 2 241463758 [A/G] NM_017844,NM_016552 ANKMY1,ANKMY1 EXON Missense_S229L,Missense_S370L exm282008 2 241465167 [T/G] NM_017844,NM_016552 ANKMY1,ANKMY1 EXON Missense_L194I,Missense_L335I exm2012292 2 241465683 [A/G] NM_017844,NM_016552 ANKMY1,ANKMY1 EXON Silent,Missense_A289V exm2237413 2 241465785 [A/G] NM_017844,NM_016552 ANKMY1,ANKMY1 EXON Silent,Missense_P255L exm282036 2 241465797 [A/G] NM_017844,NM_016552 ANKMY1,ANKMY1 EXON Silent,Missense_A251V exm282048 2 241468581 [A/G] NM_017844,NM_016552 ANKMY1,ANKMY1 EXON Silent,Missense_R187C exm282049 2 241468605 [T/G] NM_017844,NM_016552 ANKMY1,ANKMY1 EXON Silent,Missense_H179N exm282050 2 241468626 [G/C] NM_017844,NM_016552 ANKMY1,ANKMY1 EXON Silent,Missense_V172L exm282055 2 241468662 [T/G] NM_017844,NM_016552 ANKMY1,ANKMY1 EXON Silent,Missense_L160M exm282056 2 241468667 [A/G] NM_017844,NM_016552 ANKMY1,ANKMY1 EXON Silent,Missense_F158S exm282058 2 241468671 [A/G] NM_017844,NM_016552 ANKMY1,ANKMY1 EXON Silent,Missense_R157W exm282059 2 241468721 [A/G] NM_017844,NM_016552 ANKMY1,ANKMY1 EXON Silent,Missense_T140M exm282062 2 241468772 [G/C] NM_017844,NM_016552 ANKMY1,ANKMY1 EXON Silent,Missense_S123T exm282068 2 241468875 [T/C] NM_017844,NM_016552 ANKMY1,ANKMY1 EXON Silent,Missense_D89N exm282069 2 241468887 [T/C] NM_017844,NM_016552 ANKMY1,ANKMY1 EXON Silent,Missense_E85K exm282076 2 241492341 [T/C] NM_017844,NM_016552 ANKMY1,ANKMY1 EXON Missense_R157Q,Missense_R68Q exm282077 2 241492342 [A/G] NM_017844,NM_016552 ANKMY1,ANKMY1 EXON Missense_R157W,Missense_R68W exm282078 2 241492350 [A/G] NM_017844,NM_016552 ANKMY1,ANKMY1 EXON Missense_M154T,Missense_M65T exm282094 2 241494384 [T/C] NM_017844,NM_016552 ANKMY1,ANKMY1 EXON Missense_V79I,Silent exm282108 2 241496770 [A/C] NM_017844,NM_016552 ANKMY1,ANKMY1 Silent,Silent exm282170 2 241513756 [A/G] NM_018226 RNPEPL1 EXON Missense_E389K exm2255202 2 241516094 [C/G] NM_018226 RNPEPL1 EXON Synonymous_S551S exm282247 2 241526428 [G/C] NM_023083,NM_023085 CAPN10,CAPN10 EXON Missense_L34V,Missense_L34V exm282259 2 241530242 [T/C] NM_023083,NM_023085 CAPN10,CAPN10 EXON Missense_P95L,Missense_P95L exm282261 2 241530373 [T/C] NM_023083,NM_023085 CAPN10,CAPN10 EXON Missense_R139C,Missense_R139C exm2255204 2 241530375 [A/C] NM_023083,NM_023085 CAPN10,CAPN10 EXON Synonymous_R139R,Synonymous_R139R exm2012365 2 241530375 [A/C] NM_023083,NM_023085 CAPN10,CAPN10 EXON Synonymous_R139R,Synonymous_R139R exm282272 2 241531414 [A/G] NM_023083,NM_023085 CAPN10,CAPN10 EXON Missense_G179S,Missense_G179S exm282274 2 241531477 [A/C] NM_023083,NM_023085 CAPN10,CAPN10 EXON Missense_P200T,Missense_P200T exm282281 2 241533328 [T/C] NM_023083,NM_023085 CAPN10,CAPN10 EXON Missense_R232W,Missense_R232W exm2237416 2 241533341 [A/C] NM_023083,NM_023085 CAPN10,CAPN10 EXON Missense_E236A,Missense_E236A exm282295 2 241534002 [T/G] NM_023083,NM_023085 CAPN10,CAPN10 EXON Missense_E291D,Missense_E291D exm282299 2 241534088 [T/C] NM_023083,NM_023085 CAPN10,CAPN10 EXON Missense_P320L,Missense_P320L exm282308 2 241534462 [A/G] NM_023083,NM_023085 CAPN10,CAPN10 EXON Missense_R340Q,Missense_R340Q exm282312 2 241534521 [A/G] NM_023083,NM_023085 CAPN10,CAPN10 EXON Missense_G360S,Missense_G360S exm282313 2 241534532 [G/C] NM_023083,NM_023085 CAPN10,CAPN10 EXON Missense_S363R,Missense_S363R exm282320 2 241534626 [T/C] NM_023083,NM_023085 CAPN10,CAPN10 EXON Missense_R395W,Missense_R395W exm282340 2 241535835 [A/G] NM_023083,NM_023085 CAPN10,CAPN10 EXON Missense_E460K,Silent exm282342 2 241535886 [A/G] NM_023083,NM_023085 CAPN10,CAPN10 EXON Missense_A477T,Silent exm282348 2 241536114 [C/G] NM_023083,NM_023085 CAPN10,CAPN10 EXON Missense_A500P,Silent exm282350 2 241536126 [A/G] NM_023083,NM_023085 CAPN10,CAPN10 EXON Missense_T504A,Silent exm282359 2 241536279 [T/C] NM_023083,NM_023085 CAPN10,CAPN10 EXON Missense_R555C,Silent exm282370 2 241537306 [T/C] NM_023083,NM_023085 CAPN10,CAPN10 EXON Missense_V582A,Missense_V427A exm282388 2 241538074 [A/G] NM_023083,NM_023085 CAPN10,CAPN10 EXON Missense_I666V,Missense_I511V exm282415 2 241558397 [A/G] NM_001195382,NM_001195381 GPR35,GPR35 EXON Missense_R13H,Missense_R13H exm2265291 2 241558547 [A/G] NM_001195382,NM_001195381 GPR35,GPR35 Silent,Silent exm282421 2 241569440 [A/T] NM_001195382,NM_001195381,NM_005301 GPR35,GPR35,GPR35 EXON Missense_Y55F,Missense_Y55F,Missense_Y24F exm282422 2 241569442 [A/G] NM_001195382,NM_001195381,NM_005301 GPR35,GPR35,GPR35 EXON Missense_A56T,Missense_A56T,Missense_A25T exm282423 2 241569447 [C/G] NM_001195382,NM_001195381,NM_005301 GPR35,GPR35,GPR35 EXON Nonsense_Y57X,Nonsense_Y57X,Nonsense_Y26X exm282424 2 241569449 [T/C] NM_001195382,NM_001195381,NM_005301 GPR35,GPR35,GPR35 EXON Missense_L58S,Missense_L58S,Missense_L27S exm282425 2 241569454 [A/G] NM_001195382,NM_001195381,NM_005301 GPR35,GPR35,GPR35 EXON Missense_V60I,Missense_V60I,Missense_V29I exm282432 2 241569535 [T/C] NM_001195382,NM_001195381,NM_005301 GPR35,GPR35,GPR35 EXON Missense_R87C,Missense_R87C,Missense_R56C exm282437 2 241569595 [A/G] NM_001195382,NM_001195381,NM_005301 GPR35,GPR35,GPR35 EXON Missense_V107M,Missense_V107M,Missense_V76M exm282443 2 241569692 [T/C] NM_001195382,NM_001195381,NM_005301 GPR35,GPR35,GPR35 EXON Missense_T139M,Missense_T139M,Missense_T108M exm282446 2 241569703 [A/G] NM_001195382,NM_001195381,NM_005301 GPR35,GPR35,GPR35 EXON Missense_V143M,Missense_V143M,Missense_V112M exm282458 2 241569868 [T/C] NM_001195382,NM_001195381,NM_005301 GPR35,GPR35,GPR35 EXON Missense_R198W,Missense_R198W,Missense_R167W exm282464 2 241569985 [A/G] NM_001195382,NM_001195381,NM_005301 GPR35,GPR35,GPR35 EXON Missense_V237M,Missense_V237M,Missense_V206M exm282466 2 241570006 [T/C] NM_001195382,NM_001195381,NM_005301 GPR35,GPR35,GPR35 EXON Missense_R244C,Missense_R244C,Missense_R213C exm282468 2 241570019 [A/G] NM_001195382,NM_001195381,NM_005301 GPR35,GPR35,GPR35 EXON Missense_R248H,Missense_R248H,Missense_R217H exm282475 2 241570093 [A/G] NM_001195382,NM_001195381,NM_005301 GPR35,GPR35,GPR35 EXON Missense_A273T,Missense_A273T,Missense_A242T exm282479 2 241570127 [T/C] NM_001195382,NM_001195381,NM_005301 GPR35,GPR35,GPR35 EXON Missense_T284M,Missense_T284M,Missense_T253M exm282483 2 241570226 [T/C] NM_001195382,NM_001195381,NM_005301 GPR35,GPR35,GPR35 EXON Missense_A317V,Missense_A317V,Missense_A286V exm282488 2 241570249 [A/C] NM_001195382,NM_001195381,NM_005301 GPR35,GPR35,GPR35 EXON Missense_S325R,Missense_S325R,Missense_S294R exm2255206 2 241570284 [T/C] NM_001195382,NM_001195381,NM_005301 GPR35,GPR35,GPR35 EXON Synonymous_C336C,Synonymous_C336C,Synonymous_C305C exm-rs4676406 2 241579108 [T/G] exm282609 2 241631662 [A/C] NM_198998 AQP12A EXON Missense_T99P exm2012585 2 241631663 [A/C] NM_198998 AQP12A EXON Missense_T99K exm282649 2 241658469 [A/G] NM_001244008,NM_004321 KIF1A,KIF1A EXON Missense_A1723V,Missense_A1622V exm2012632 2 241658482 [T/C] NM_001244008,NM_004321 KIF1A,KIF1A EXON Missense_V1719M,Missense_V1618M exm282667 2 241659285 [T/C] NM_001244008,NM_004321 KIF1A,KIF1A EXON Missense_D1643N,Missense_D1542N exm282671 2 241659323 [T/C] NM_001244008,NM_004321 KIF1A,KIF1A EXON Missense_R1630Q,Missense_R1529Q exm282683 2 241660428 [A/G] NM_001244008,NM_004321 KIF1A,KIF1A EXON Missense_R1591W,Missense_R1490W exm282694 2 241661934 [A/G] NM_001244008,NM_004321 KIF1A,KIF1A EXON Missense_A1535V,Missense_A1434V exm282712 2 241663404 [T/C] NM_001244008,NM_004321 KIF1A,KIF1A EXON Missense_A1436T,Missense_A1335T exm282715 2 241664695 [A/T] NM_001244008,NM_004321 KIF1A,KIF1A EXON Missense_S1417T,Missense_S1316T exm282738 2 241679490 [G/C] NM_001244008,NM_004321 KIF1A,KIF1A EXON Missense_R1296G,Missense_R1195G exm282740 2 241679505 [A/G] NM_001244008,NM_004321 KIF1A,KIF1A EXON Missense_R1291C,Missense_R1190C exm282764 2 241683449 [A/G] NM_001244008,NM_004321 KIF1A,KIF1A EXON Missense_I1165T,Missense_I1064T exm2012709 2 241685282 [T/C] NM_001244008,NM_004321 KIF1A,KIF1A EXON Missense_A1083T,Missense_A982T exm282783 2 241685573 [T/C] NM_001244008,NM_004321 KIF1A,KIF1A EXON Missense_V1029M,Missense_V928M exm282785 2 241686663 [T/G] NM_001244008,NM_004321 KIF1A,KIF1A EXON Missense_H1018P,Missense_H917P exm282786 2 241686737 [A/G] NM_001244008,NM_004321 KIF1A,KIF1A EXON Synonymous_A993A,Synonymous_A892A exm282858 2 241722018 [A/C] NM_001244008,NM_004321 KIF1A,KIF1A EXON Nonsense_G291X,Nonsense_G291X exm282899 2 241808308 [A/C] NM_000030 AGXT EXON Missense_T9N exm282903 2 241808347 [A/G] NM_000030 AGXT EXON Missense_N22S exm282916 2 241808687 [T/C] NM_000030 AGXT EXON Missense_A89V exm282937 2 241810850 [A/G] NM_000030 AGXT EXON Missense_G170R exm282945 2 241812461 [A/G] NM_000030 AGXT EXON Missense_R197Q exm282971 2 241815411 [T/C] NM_000030 AGXT EXON Missense_I279T exm282972 2 241815414 [T/C] NM_000030 AGXT EXON Missense_A280V exm282976 2 241816972 [T/C] NM_000030 AGXT EXON Missense_R289C exm282977 2 241816973 [A/G] NM_000030 AGXT EXON Missense_R289H exm282979 2 241816990 [A/G] NM_000030 AGXT EXON Missense_A295T exm282984 2 241817048 [T/C] NM_000030 AGXT EXON Missense_P314L exm282988 2 241817472 [A/G] NM_000030 AGXT EXON Missense_V326I exm282989 2 241817516 [A/G] NM_000030 AGXT EXON Missense_I340M exm282990 2 241817519 [A/C] NM_000030 AGXT EXON Missense_D341E exm282991 2 241817544 [A/G] NM_000030 AGXT EXON Missense_G350S exm282995 2 241818201 [A/G] NM_000030 AGXT EXON Missense_R381K exm283000 2 241826521 [T/C] NM_001085437,NM_024861 C2orf54,C2orf54 EXON Missense_Q437R,Missense_Q269R exm283004 2 241826558 [T/C] NM_001085437,NM_024861 C2orf54,C2orf54 EXON Missense_D425N,Missense_D257N exm283013 2 241827779 [A/G] NM_001085437,NM_024861 C2orf54,C2orf54 EXON Missense_A394V,Missense_A226V exm283015 2 241827798 [T/C] NM_001085437,NM_024861 C2orf54,C2orf54 EXON Missense_I388V,Missense_I220V exm283028 2 241827924 [T/C] NM_001085437,NM_024861 C2orf54,C2orf54 EXON Missense_N346D,Missense_N178D exm283037 2 241828034 [A/G] NM_001085437,NM_024861 C2orf54,C2orf54 EXON Missense_L309P,Missense_L141P exm283068 2 241831155 [G/C] NM_001085437,NM_024861 C2orf54,C2orf54 EXON Missense_R180S,Missense_R12S exm283070 2 241831168 [A/G] NM_001085437,NM_024861 C2orf54,C2orf54 EXON Missense_A176V,Missense_A8V exm283076 2 241834907 [T/C] NM_001085437 C2orf54 EXON Missense_A170T exm283083 2 241834996 [T/C] NM_001085437 C2orf54 EXON Missense_R140H exm283086 2 241835017 [A/G] NM_001085437 C2orf54 EXON Missense_S133L exm283087 2 241835039 [T/C] NM_001085437 C2orf54 EXON Missense_E126K exm283093 2 241835110 [A/G] NM_001085437 C2orf54 EXON Missense_P102L exm283105 2 241835269 [T/C] NM_001085437 C2orf54 EXON Missense_R49H exm283106 2 241835291 [T/C] NM_001085437 C2orf54 EXON Missense_V42M exm283107 2 241835300 [T/C] NM_001085437 C2orf54 EXON Missense_A39T exm283109 2 241835320 [T/C] NM_001085437 C2orf54 EXON Missense_R32H exm-rs6739772 2 241840711 [A/G] exm283174 2 241969887 [A/G] NM_001080437 SNED1 EXON Missense_V134I exm283189 2 241974013 [A/G] NM_001080437 SNED1 EXON Missense_R224H exm283194 2 241976210 [A/C] NM_001080437 SNED1 EXON Missense_S270Y exm283221 2 241987798 [T/C] NM_001080437 SNED1 EXON Missense_A447V exm283227 2 241988126 [A/G] NM_001080437 SNED1 EXON Missense_A483T exm283239 2 241989311 [A/G] NM_001080437 SNED1 EXON Missense_E566K exm283249 2 241991813 [T/A] NM_001080437 SNED1 EXON Missense_T671S exm283269 2 242002306 [A/G] NM_001080437 SNED1 EXON Missense_A786T exm283278 2 242003471 [A/G] NM_001080437 SNED1 EXON Missense_R843Q exm283281 2 242004296 [A/G] NM_001080437 SNED1 EXON Missense_R879H exm283286 2 242004747 [A/G] NM_001080437 SNED1 EXON Missense_R916G exm283289 2 242004801 [A/G] NM_001080437 SNED1 EXON Missense_A934T exm283312 2 242004993 [A/G] NM_001080437 SNED1 EXON Missense_V998M exm283316 2 242007212 [A/G] NM_001080437 SNED1 EXON Missense_N1015S exm283318 2 242007225 [A/C] NM_001080437 SNED1 EXON Missense_S1019R exm283336 2 242009463 [T/A] NM_001080437 SNED1 EXON Missense_T1146S exm283341 2 242009530 [A/G] NM_001080437 SNED1 EXON Missense_R1168Q exm283346 2 242009595 [G/C] NM_001080437 SNED1 EXON Missense_A1190P exm283362 2 242012729 [A/G] NM_001080437 SNED1 EXON Missense_R1289Q exm283364 2 242012759 [A/G] NM_001080437 SNED1 EXON Missense_H1299R exm283374 2 242021197 [A/G] NM_001080437 SNED1 EXON Missense_R1341H exm283380 2 242021742 [T/G] NM_001080437 SNED1 EXON Missense_A1362S exm283410 2 242035466 [T/C] NR_028049,NR_028050,NR_028051,NM_182501 MTERFD2,MTERFD2,MTERFD2,MTERFD2 EXON Silent,Silent,Silent,Missense_D365N exm283415 2 242035493 [T/C] NR_028049,NR_028050,NR_028051,NM_182501 MTERFD2,MTERFD2,MTERFD2,MTERFD2 EXON Silent,Silent,Silent,Missense_N356D exm283416 2 242035497 [A/C] NR_028049,NR_028050,NR_028051,NM_182501 MTERFD2,MTERFD2,MTERFD2,MTERFD2 EXON Silent,Silent,Silent,Missense_D354E exm283420 2 242035520 [C/G] NR_028049,NR_028050,NR_028051,NM_182501 MTERFD2,MTERFD2,MTERFD2,MTERFD2 EXON Silent,Silent,Silent,Missense_D347H exm283422 2 242035530 [G/C] NR_028049,NR_028050,NR_028051,NM_182501 MTERFD2,MTERFD2,MTERFD2,MTERFD2 EXON Silent,Silent,Silent,Missense_E343D exm283424 2 242035544 [G/C] NR_028049,NR_028050,NR_028051,NM_182501 MTERFD2,MTERFD2,MTERFD2,MTERFD2 EXON Silent,Silent,Silent,Missense_L339V exm283426 2 242035594 [T/C] NR_028049,NR_028050,NR_028051,NM_182501 MTERFD2,MTERFD2,MTERFD2,MTERFD2 EXON Silent,Silent,Silent,Missense_R322Q exm283428 2 242035640 [A/G] NR_028049,NR_028050,NR_028051,NM_182501 MTERFD2,MTERFD2,MTERFD2,MTERFD2 EXON Silent,Silent,Silent,Missense_C307R exm283439 2 242036732 [A/G] NR_028049,NR_028050,NR_028051,NM_182501 MTERFD2,MTERFD2,MTERFD2,MTERFD2 EXON Silent,Silent,Silent,Nonsense_Q211X exm283444 2 242036797 [A/G] NR_028049,NR_028050,NR_028051,NM_182501 MTERFD2,MTERFD2,MTERFD2,MTERFD2 EXON Silent,Silent,Silent,Missense_M189T exm283449 2 242038813 [T/C] NR_028049,NR_028050,NR_028051,NM_182501 MTERFD2,MTERFD2,MTERFD2,MTERFD2 EXON Silent,Silent,Silent,Missense_E173G exm283454 2 242038985 [A/G] NR_028049,NR_028050,NR_028051,NM_182501 MTERFD2,MTERFD2,MTERFD2,MTERFD2 EXON Silent,Silent,Silent,Missense_R116W exm283464 2 242039198 [T/C] NR_028049,NR_028050,NR_028051,NM_182501 MTERFD2,MTERFD2,MTERFD2,MTERFD2 EXON Silent,Silent,Silent,Missense_T45A exm283465 2 242039210 [A/G] NR_028049,NR_028050,NR_028051,NM_182501 MTERFD2,MTERFD2,MTERFD2,MTERFD2 EXON Silent,Silent,Silent,Missense_R41C exm283479 2 242045997 [T/C] NM_015148,NM_001252120,NM_001252122,NM_001252119 PASK,PASK,PASK,PASK EXON Missense_R1319H,Missense_R1319H,Missense_R1284H,Missense_R1326H exm283486 2 242046049 [T/C] NM_015148,NM_001252120,NM_001252122,NM_001252119 PASK,PASK,PASK,PASK EXON Missense_V1302I,Missense_V1302I,Missense_V1267I,Missense_V1309I exm283493 2 242046785 [A/C] NM_015148,NM_001252120,NM_001252122,NM_001252119 PASK,PASK,PASK,PASK EXON Missense_F1266C,Missense_F1266C,Missense_F1231C,Missense_F1273C exm283495 2 242046882 [T/G] NM_015148,NM_001252120,NM_001252122,NM_001252119 PASK,PASK,PASK,PASK EXON Missense_P1234T,Missense_P1234T,Missense_P1199T,Missense_P1241T exm283503 2 242047621 [T/C] NM_015148,NM_001252120,NM_001252122,NM_001252119 PASK,PASK,PASK,PASK EXON Missense_V1210M,Missense_V1210M,Missense_V1175M,Missense_V1217M exm283512 2 242051654 [T/C] NM_015148,NM_001252120,NM_001252122,NM_001252119 PASK,PASK,PASK,PASK Silent,Silent,Silent,Silent exm283514 2 242051668 [A/G] NM_015148,NM_001252120,NM_001252122,NM_001252119 PASK,PASK,PASK,PASK EXON Missense_L1174F,Missense_L1174F,Missense_L1139F,Missense_L1181F exm283526 2 242051838 [T/C] NM_015148,NM_001252120,NM_001252122,NM_001252119 PASK,PASK,PASK,PASK EXON Missense_G1117E,Missense_G1117E,Missense_G1082E,Missense_G1124E exm283527 2 242051855 [T/C] NM_015148,NM_001252120,NM_001252122,NM_001252119 PASK,PASK,PASK,PASK Silent,Silent,Silent,Silent exm283542 2 242054750 [A/C] NM_015148,NM_001252120,NM_001252122,NM_001252119,NM_001252124 PASK,PASK,PASK,PASK,PASK EXON Missense_L1051V,Missense_L1051V,Missense_L1016V,Missense_L1051V,Missense_L1051V exm283543 2 242054810 [T/C] NM_015148,NM_001252120,NM_001252122,NM_001252119,NM_001252124 PASK,PASK,PASK,PASK,PASK EXON Missense_K1031E,Missense_K1031E,Missense_K996E,Missense_K1031E,Missense_K1031E exm283560 2 242063458 [T/C] NM_015148,NM_001252120,NM_001252122,NM_001252119,NM_001252124 PASK,PASK,PASK,PASK,PASK EXON Missense_R937H,Missense_R937H,Missense_R902H,Missense_R937H,Missense_R937H exm283561 2 242063459 [A/G] NM_015148,NM_001252120,NM_001252122,NM_001252119,NM_001252124 PASK,PASK,PASK,PASK,PASK EXON Missense_R937C,Missense_R937C,Missense_R902C,Missense_R937C,Missense_R937C exm2261232 2 242065498 [A/G] NM_015148,NM_001252120,NM_001252122,NM_001252119,NM_001252124 PASK,PASK,PASK,PASK,PASK Silent,Silent,Silent,Silent,Silent exm283572 2 242065635 [A/G] NM_015148,NM_001252120,NM_001252122,NM_001252119,NM_001252124 PASK,PASK,PASK,PASK,PASK EXON Missense_Y899H,Missense_Y899H,Missense_Y864H,Missense_Y899H,Missense_Y899H exm283577 2 242065688 [T/C] NM_015148,NM_001252120,NM_001252122,NM_001252119,NM_001252124 PASK,PASK,PASK,PASK,PASK EXON Missense_G881E,Missense_G881E,Missense_G846E,Missense_G881E,Missense_G881E exm283579 2 242065698 [T/C] NM_015148,NM_001252120,NM_001252122,NM_001252119,NM_001252124 PASK,PASK,PASK,PASK,PASK EXON Missense_V878M,Missense_V878M,Missense_V843M,Missense_V878M,Missense_V878M exm283584 2 242065754 [T/C] NM_015148,NM_001252120,NM_001252122,NM_001252119,NM_001252124 PASK,PASK,PASK,PASK,PASK EXON Missense_C859Y,Missense_C859Y,Missense_C824Y,Missense_C859Y,Missense_C859Y exm283586 2 242065757 [A/G] NM_015148,NM_001252120,NM_001252122,NM_001252119,NM_001252124 PASK,PASK,PASK,PASK,PASK EXON Missense_T858M,Missense_T858M,Missense_T823M,Missense_T858M,Missense_T858M exm283587 2 242065761 [T/C] NM_015148,NM_001252120,NM_001252122,NM_001252119,NM_001252124 PASK,PASK,PASK,PASK,PASK EXON Missense_D857N,Missense_D857N,Missense_D822N,Missense_D857N,Missense_D857N exm283589 2 242065781 [A/G] NM_015148,NM_001252120,NM_001252122,NM_001252119,NM_001252124 PASK,PASK,PASK,PASK,PASK EXON Missense_T850M,Missense_T850M,Missense_T815M,Missense_T850M,Missense_T850M exm283595 2 242065814 [T/C] NM_015148,NM_001252120,NM_001252122,NM_001252119,NM_001252124 PASK,PASK,PASK,PASK,PASK EXON Missense_S839N,Missense_S839N,Missense_S804N,Missense_S839N,Missense_S839N exm283604 2 242065926 [T/C] NM_015148,NM_001252120,NM_001252122,NM_001252119,NM_001252124 PASK,PASK,PASK,PASK,PASK EXON Missense_G802S,Missense_G802S,Missense_G767S,Missense_G802S,Missense_G802S exm283605 2 242065944 [T/C] NM_015148,NM_001252120,NM_001252122,NM_001252119,NM_001252124 PASK,PASK,PASK,PASK,PASK EXON Missense_E796K,Missense_E796K,Missense_E761K,Missense_E796K,Missense_E796K exm283609 2 242065986 [G/C] NM_015148,NM_001252120,NM_001252122,NM_001252119,NM_001252124 PASK,PASK,PASK,PASK,PASK EXON Missense_G782R,Missense_G782R,Missense_G747R,Missense_G782R,Missense_G782R exm283616 2 242066156 [T/C] NM_015148,NM_001252120,NM_001252122,NM_001252119,NM_001252124 PASK,PASK,PASK,PASK,PASK EXON Missense_G725D,Missense_G725D,Missense_G690D,Missense_G725D,Missense_G725D exm283617 2 242066165 [A/G] NM_015148,NM_001252120,NM_001252122,NM_001252119,NM_001252124 PASK,PASK,PASK,PASK,PASK EXON Missense_L722P,Missense_L722P,Missense_L687P,Missense_L722P,Missense_L722P exm283626 2 242066276 [C/G] NM_015148,NM_001252120,NM_001252122,NM_001252119,NM_001252124 PASK,PASK,PASK,PASK,PASK EXON Missense_T685R,Missense_T685R,Missense_T650R,Missense_T685R,Missense_T685R exm283628 2 242066279 [A/G] NM_015148,NM_001252120,NM_001252122,NM_001252119,NM_001252124 PASK,PASK,PASK,PASK,PASK EXON Missense_P684L,Missense_P684L,Missense_P649L,Missense_P684L,Missense_P684L exm283629 2 242066291 [A/G] NM_015148,NM_001252120,NM_001252122,NM_001252119,NM_001252124 PASK,PASK,PASK,PASK,PASK EXON Missense_A680V,Missense_A680V,Missense_A645V,Missense_A680V,Missense_A680V exm283635 2 242066370 [A/G] NM_015148,NM_001252120,NM_001252122,NM_001252119,NM_001252124 PASK,PASK,PASK,PASK,PASK EXON Nonsense_R654X,Nonsense_R654X,Nonsense_R619X,Nonsense_R654X,Nonsense_R654X exm283643 2 242066492 [T/C] NM_015148,NM_001252120,NM_001252122,NM_001252119,NM_001252124 PASK,PASK,PASK,PASK,PASK EXON Missense_Y613C,Missense_Y613C,Missense_Y578C,Missense_Y613C,Missense_Y613C exm283651 2 242066688 [A/C] NM_015148,NM_001252120,NM_001252122,NM_001252119,NM_001252124 PASK,PASK,PASK,PASK,PASK EXON Missense_D548Y,Missense_D548Y,Missense_D513Y,Missense_D548Y,Missense_D548Y exm283653 2 242066754 [T/C] NM_015148,NM_001252120,NM_001252122,NM_001252119,NM_001252124 PASK,PASK,PASK,PASK,PASK EXON Missense_G526R,Missense_G526R,Missense_G491R,Missense_G526R,Missense_G526R exm283655 2 242066789 [A/G] NM_015148,NM_001252120,NM_001252122,NM_001252119,NM_001252124 PASK,PASK,PASK,PASK,PASK EXON Missense_L514S,Missense_L514S,Missense_L479S,Missense_L514S,Missense_L514S exm283656 2 242066796 [T/C] NM_015148,NM_001252120,NM_001252122,NM_001252119,NM_001252124 PASK,PASK,PASK,PASK,PASK EXON Missense_T512A,Missense_T512A,Missense_T477A,Missense_T512A,Missense_T512A exm283664 2 242072325 [T/C] NM_015148,NM_001252120,NM_001252122,NM_001252119,NM_001252124 PASK,PASK,PASK,PASK,PASK EXON Missense_Q476R,Missense_Q476R,Missense_Q441R,Missense_Q476R,Missense_Q476R exm283667 2 242072389 [A/G] NM_015148,NM_001252120,NM_001252122,NM_001252119,NM_001252124 PASK,PASK,PASK,PASK,PASK EXON Missense_R455W,Missense_R455W,Missense_R420W,Missense_R455W,Missense_R455W exm283669 2 242072401 [A/G] NM_015148,NM_001252120,NM_001252122,NM_001252119,NM_001252124 PASK,PASK,PASK,PASK,PASK EXON Nonsense_R451X,Nonsense_R451X,Nonsense_R416X,Nonsense_R451X,Nonsense_R451X exm283678 2 242075358 [T/C] NM_015148,NM_001252120,NM_001252122,NM_001252119,NM_001252124 PASK,PASK,PASK,PASK,PASK EXON Missense_G412S,Missense_G412S,Missense_G377S,Missense_G412S,Missense_G412S exm283689 2 242076451 [A/C] NM_015148,NM_001252120,NM_001252122,NM_001252119,NM_001252124 PASK,PASK,PASK,PASK,PASK EXON Missense_F369V,Missense_F369V,Missense_F334V,Missense_F369V,Missense_F369V exm283695 2 242076549 [T/C] NM_015148,NM_001252120,NM_001252122,NM_001252119,NM_001252124 PASK,PASK,PASK,PASK,PASK EXON Missense_R336Q,Missense_R336Q,Missense_R301Q,Missense_R336Q,Missense_R336Q exm283709 2 242077480 [T/C] NM_015148,NM_001252120,NM_001252122,NM_001252119,NM_001252124 PASK,PASK,PASK,PASK,PASK EXON Missense_S255N,Missense_S255N,Silent,Missense_S255N,Missense_S255N exm283711 2 242077496 [T/C] NM_015148,NM_001252120,NM_001252122,NM_001252119,NM_001252124 PASK,PASK,PASK,PASK,PASK EXON Missense_V250I,Missense_V250I,Silent,Missense_V250I,Missense_V250I exm283716 2 242078094 [A/G] NM_015148,NM_001252120,NM_001252122,NM_001252119,NM_001252124 PASK,PASK,PASK,PASK,PASK EXON Missense_S239L,Missense_S239L,Missense_S239L,Missense_S239L,Missense_S239L exm283722 2 242078140 [A/G] NM_015148,NM_001252120,NM_001252122,NM_001252119,NM_001252124 PASK,PASK,PASK,PASK,PASK EXON Missense_R224C,Missense_R224C,Missense_R224C,Missense_R224C,Missense_R224C exm283724 2 242078148 [T/C] NM_015148,NM_001252120,NM_001252122,NM_001252119,NM_001252124 PASK,PASK,PASK,PASK,PASK EXON Missense_R221Q,Missense_R221Q,Missense_R221Q,Missense_R221Q,Missense_R221Q exm283725 2 242078172 [A/G] NM_015148,NM_001252120,NM_001252122,NM_001252119,NM_001252124 PASK,PASK,PASK,PASK,PASK EXON Missense_V213A,Missense_V213A,Missense_V213A,Missense_V213A,Missense_V213A exm283737 2 242079407 [A/G] NM_015148,NM_001252120,NM_001252122,NM_001252119,NM_001252124 PASK,PASK,PASK,PASK,PASK EXON Nonsense_Q165X,Nonsense_Q165X,Nonsense_Q165X,Nonsense_Q165X,Nonsense_Q165X exm283746 2 242079958 [A/G] NM_015148,NM_001252120,NM_001252122,NM_001252119,NM_001252124 PASK,PASK,PASK,PASK,PASK EXON Missense_T136M,Missense_T136M,Missense_T136M,Missense_T136M,Missense_T136M exm283747 2 242079959 [T/C] NM_015148,NM_001252120,NM_001252122,NM_001252119,NM_001252124 PASK,PASK,PASK,PASK,PASK EXON Missense_T136A,Missense_T136A,Missense_T136A,Missense_T136A,Missense_T136A exm283759 2 242080117 [T/C] NM_015148,NM_001252120,NM_001252122,NM_001252119,NM_001252124 PASK,PASK,PASK,PASK,PASK EXON Missense_C83Y,Missense_C83Y,Missense_C83Y,Missense_C83Y,Missense_C83Y exm283761 2 242080153 [A/G] NM_015148,NM_001252120,NM_001252122,NM_001252119,NM_001252124 PASK,PASK,PASK,PASK,PASK EXON Missense_S71F,Missense_S71F,Missense_S71F,Missense_S71F,Missense_S71F exm283768 2 242082263 [A/G] NM_015148,NM_001252120,NM_001252122,NM_001252119,NM_001252124 PASK,PASK,PASK,PASK,PASK EXON Missense_T62I,Missense_T62I,Missense_T62I,Missense_T62I,Missense_T62I exm283793 2 242092999 [C/G] NM_002712 PPP1R7 EXON Missense_R54P exm283798 2 242097918 [A/G] NM_002712 PPP1R7 EXON Missense_Y86C exm283804 2 242098692 [A/G] NM_002712 PPP1R7 EXON Missense_R123Q exm283806 2 242099784 [A/G] NM_002712 PPP1R7 EXON Missense_E158K exm283820 2 242109206 [T/C] NM_002712 PPP1R7 EXON Missense_T277M exm283823 2 242109236 [A/G] NM_002712 PPP1R7 EXON Missense_K287R exm2269243 2 242110786 [T/C] NM_002712 PPP1R7 Silent exm283828 2 242122182 [A/G] NM_002712 PPP1R7 EXON Missense_V343I exm283839 2 242128090 [A/G] NM_001001666,NM_001001891 ANO7,ANO7 EXON Missense_A22T,Missense_A22T exm283841 2 242128114 [T/C] NM_001001666,NM_001001891 ANO7,ANO7 EXON Nonsense_R30X,Nonsense_R30X exm283844 2 242128153 [A/G] NM_001001666,NM_001001891 ANO7,ANO7 EXON Missense_E43K,Missense_E43K exm283854 2 242129524 [A/G] NM_001001666,NM_001001891 ANO7,ANO7 EXON Missense_D70N,Missense_D70N exm283855 2 242129553 [C/G] NM_001001666,NM_001001891 ANO7,ANO7 EXON Missense_R79S,Missense_R79S exm283865 2 242130657 [T/C] NM_001001666,NM_001001891 ANO7,ANO7 EXON Missense_P107S,Missense_P107S exm283866 2 242130660 [T/C] NM_001001666,NM_001001891 ANO7,ANO7 EXON Missense_R108W,Missense_R108W exm283867 2 242130661 [A/G] NM_001001666,NM_001001891 ANO7,ANO7 EXON Missense_R108Q,Missense_R108Q exm283869 2 242135126 [A/G] NM_001001666,NM_001001891 ANO7,ANO7 EXON Missense_V112I,Missense_V113I exm283870 2 242135132 [A/G] NM_001001666,NM_001001891 ANO7,ANO7 EXON Missense_V114I,Missense_V115I exm283871 2 242135144 [T/G] NM_001001666,NM_001001891 ANO7,ANO7 EXON Missense_D118Y,Missense_D119Y exm283872 2 242135166 [A/G] NM_001001666,NM_001001891 ANO7,ANO7 EXON Missense_Q125R,Missense_Q126R exm283877 2 242135210 [T/C] NM_001001666,NM_001001891 ANO7,ANO7 EXON Missense_R140W,Missense_R141W exm283878 2 242135235 [A/G] NM_001001666,NM_001001891 ANO7,ANO7 EXON Missense_R148H,Missense_R149H exm283880 2 242135257 [A/C] NM_001001666,NM_001001891 ANO7,ANO7 EXON Missense_D155E,Missense_D156E exm283881 2 242135265 [A/G] NM_001001666,NM_001001891 ANO7,ANO7 EXON Missense_R158H,Silent exm283891 2 242138767 [A/G] NM_001001891 ANO7 EXON Missense_A170T exm283893 2 242138779 [A/G] NM_001001891 ANO7 EXON Missense_A174T exm283896 2 242138819 [A/G] NM_001001891 ANO7 EXON Missense_R187H exm283905 2 242139591 [A/G] NM_001001891 ANO7 EXON Missense_V223I exm283907 2 242139600 [A/G] NM_001001891 ANO7 EXON Missense_E226K exm283911 2 242139640 [A/G] NM_001001891 ANO7 EXON Missense_R239H exm283914 2 242140720 [A/G] NM_001001891 ANO7 EXON Missense_G242R exm283915 2 242140745 [A/T] NM_001001891 ANO7 EXON Missense_F250Y exm2013394 2 242141644 [C/G] NM_001001891 ANO7 EXON Missense_H270Q exm283923 2 242141645 [A/G] NM_001001891 ANO7 EXON Missense_E271K exm2013400 2 242142826 [T/C] NM_001001891 ANO7 EXON Missense_R322C exm283937 2 242142869 [A/G] NM_001001891 ANO7 EXON Missense_R336H exm283940 2 242144307 [T/C] NM_001001891 ANO7 EXON Missense_A360V exm283943 2 242144358 [A/C] NM_001001891 ANO7 EXON Nonsense_S377X exm2013406 2 242147020 [A/G] NM_001001891 ANO7 EXON Missense_E392K exm283947 2 242147036 [A/G] NM_001001891 ANO7 EXON Missense_C397Y exm283949 2 242147068 [A/G] NM_001001891 ANO7 EXON Missense_A408T exm283952 2 242148699 [A/G] NM_001001891 ANO7 Silent exm283961 2 242148763 [A/G] NM_001001891 ANO7 EXON Missense_V435M exm283962 2 242148764 [T/A] NM_001001891 ANO7 EXON Missense_V435E exm283963 2 242148778 [T/A] NM_001001891 ANO7 EXON Missense_Y440N exm283977 2 242149010 [T/C] NM_001001891 ANO7 EXON Missense_A494V exm284002 2 242149925 [A/G] NM_001001891 ANO7 EXON Missense_V555I exm284006 2 242149979 [T/C] NM_001001891 ANO7 EXON Nonsense_R573X exm284010 2 242151517 [T/C] NM_001001891 ANO7 EXON Missense_R578C exm284017 2 242151595 [A/G] NM_001001891 ANO7 EXON Missense_V604I exm284020 2 242151987 [A/G] NM_001001891 ANO7 EXON Synonymous_R612R exm284024 2 242152039 [G/C] NM_001001891 ANO7 EXON Missense_E630Q exm284028 2 242154224 [T/C] NM_001001891 ANO7 EXON Missense_A632V exm284033 2 242154318 [A/G] NM_001001891 ANO7 Silent exm284045 2 242155638 [A/G] NM_001001891 ANO7 EXON Missense_E707K exm284052 2 242157184 [A/C] NM_001001891 ANO7 EXON Missense_I740L exm284054 2 242157200 [T/G] NM_001001891 ANO7 EXON Missense_R745L exm284061 2 242157241 [A/G] NM_001001891 ANO7 EXON Missense_A759T exm284088 2 242163158 [T/G] NM_001001891 ANO7 EXON Nonsense_E886X exm284096 2 242163359 [A/G] NM_001001891 ANO7 EXON Missense_E912K exm2273367 2 242168980 [T/C] NM_001243900,NM_005336,NM_203346 HDLBP,HDLBP,HDLBP EXON Silent,Silent,Silent exm284147 2 242174955 [T/C] NM_001243900,NM_005336,NM_203346 HDLBP,HDLBP,HDLBP EXON Missense_V954I,Missense_V987I,Missense_V987I exm284157 2 242176078 [G/C] NM_001243900,NM_005336,NM_203346 HDLBP,HDLBP,HDLBP EXON Missense_I919M,Missense_I952M,Missense_I952M exm284186 2 242179464 [A/C] NM_001243900,NM_005336,NM_203346 HDLBP,HDLBP,HDLBP EXON Missense_G715V,Missense_G748V,Missense_G748V exm284189 2 242179509 [T/C] NM_001243900,NM_005336,NM_203346 HDLBP,HDLBP,HDLBP EXON Missense_R700H,Missense_R733H,Missense_R733H exm284195 2 242181946 [T/C] NM_001243900,NM_005336,NM_203346 HDLBP,HDLBP,HDLBP EXON Missense_V667I,Missense_V700I,Missense_V700I exm284196 2 242181970 [T/C] NM_001243900,NM_005336,NM_203346 HDLBP,HDLBP,HDLBP EXON Missense_V659M,Missense_V692M,Missense_V692M exm284235 2 242192422 [T/G] NM_001243900,NM_005336,NM_203346 HDLBP,HDLBP,HDLBP EXON Missense_N408T,Missense_N441T,Missense_N441T exm284239 2 242192848 [T/C] NM_001243900,NM_005336,NM_203346 HDLBP,HDLBP,HDLBP EXON Missense_N385S,Missense_N418S,Missense_N418S exm284242 2 242192881 [T/C] NM_001243900,NM_005336,NM_203346 HDLBP,HDLBP,HDLBP EXON Missense_K374R,Missense_K407R,Missense_K407R exm284244 2 242194540 [C/G] NM_001243900,NM_005336,NM_203346 HDLBP,HDLBP,HDLBP EXON Missense_P339A,Missense_P372A,Missense_P372A exm284260 2 242195719 [C/G] NM_001243900,NM_005336,NM_203346 HDLBP,HDLBP,HDLBP EXON Missense_E287D,Missense_E251D,Missense_E251D exm284261 2 242195731 [C/G] NM_001243900,NM_005336,NM_203346 HDLBP,HDLBP,HDLBP EXON Missense_E283D,Missense_E247D,Missense_E247D exm284266 2 242195787 [T/C] NM_001243900,NM_005336,NM_203346 HDLBP,HDLBP,HDLBP EXON Missense_V265I,Missense_V229I,Missense_V229I exm284267 2 242196098 [G/C] NM_001243900,NM_005336,NM_203346 HDLBP,HDLBP,HDLBP EXON Missense_P228A,Missense_P192A,Missense_P192A exm284273 2 242203916 [A/C] NM_001243900,NM_005336,NM_203346 HDLBP,HDLBP,HDLBP EXON Missense_S97A,Missense_S61A,Missense_S61A exm284279 2 242204015 [T/C] NM_001243900,NM_005336,NM_203346 HDLBP,HDLBP,HDLBP EXON Missense_T64A,Missense_T28A,Missense_T28A exm-rs12694997 2 242262986 [A/G] NM_001008491,NM_006155,NM_004404,NM_001008492 SEPT2,SEPT2,SEPT2,SEPT2 Silent,Silent,Silent,Silent exm284331 2 242289575 [A/G] NM_001008491,NM_006155,NM_004404,NM_001008492 SEPT2,SEPT2,SEPT2,SEPT2 EXON Missense_G358R,Missense_G358R,Missense_G358R,Missense_G358R exm284332 2 242289584 [A/G] NM_001008491,NM_006155,NM_004404,NM_001008492 SEPT2,SEPT2,SEPT2,SEPT2 EXON Missense_V361M,Missense_V361M,Missense_V361M,Missense_V361M exm284337 2 242312572 [A/G] NM_014808 FARP2 EXON Missense_R17H exm284341 2 242312617 [A/G] NM_014808 FARP2 EXON Missense_G32E exm284342 2 242312655 [T/C] NM_014808 FARP2 EXON Missense_H45Y exm284343 2 242312656 [A/G] NM_014808 FARP2 EXON Missense_H45R exm284364 2 242352722 [T/C] NM_014808 FARP2 EXON Missense_S170L exm284369 2 242352768 [A/C] NM_014808 FARP2 EXON Missense_K185N exm284370 2 242352775 [A/G] NM_014808 FARP2 EXON Missense_E188K exm284378 2 242357510 [A/G] NM_014808 FARP2 EXON Missense_V253I exm284380 2 242371101 [T/C] NM_014808 FARP2 EXON Missense_T260I exm284381 2 242371116 [T/C] NM_014808 FARP2 EXON Missense_F265S exm284383 2 242371130 [G/C] NM_014808 FARP2 EXON Missense_V270L exm284404 2 242380734 [A/G] NM_014808 FARP2 EXON Missense_E392K exm2273888 2 242380800 [C/G] NM_014808 FARP2 EXON Missense_L414V exm284413 2 242380873 [A/G] NM_014808 FARP2 EXON Missense_K438R exm284434 2 242396209 [A/C] NM_014808 FARP2 EXON Missense_P487T exm284440 2 242396299 [T/G] NM_014808 FARP2 EXON Missense_G517C exm284448 2 242402016 [A/G] NM_014808 FARP2 EXON Missense_V556I exm284462 2 242402802 [T/C] NM_014808 FARP2 EXON Missense_T577M exm284482 2 242407588 [A/G] NM_014808 FARP2 EXON Missense_V643I exm284483 2 242407618 [T/C] NM_014808 FARP2 EXON Missense_R653C exm284487 2 242407673 [A/G] NM_014808 FARP2 EXON Missense_Y671C exm284492 2 242407741 [T/C] NM_014808 FARP2 EXON Missense_R694C exm284494 2 242407748 [A/G] NM_014808 FARP2 EXON Missense_C696Y exm284499 2 242415273 [T/C] NM_014808 FARP2 EXON Synonymous_D711D exm284514 2 242423699 [A/C] NM_014808 FARP2 EXON Missense_T792P exm2237446 2 242423711 [T/C] NM_014808 FARP2 EXON Missense_R796W exm284515 2 242423712 [A/G] NM_014808 FARP2 EXON Missense_R796Q exm284521 2 242429426 [A/G] NM_014808 FARP2 EXON Missense_Y824C exm284523 2 242429428 [A/G] NM_014808 FARP2 EXON Missense_A825T exm284524 2 242429429 [T/C] NM_014808 FARP2 EXON Missense_A825V exm284526 2 242430480 [T/C] NM_014808 FARP2 EXON Missense_R837W exm284527 2 242430495 [A/C] NM_014808 FARP2 EXON Missense_K842Q exm284528 2 242430501 [T/A] NM_014808 FARP2 EXON Missense_M844L exm284555 2 242432819 [A/G] NM_014808 FARP2 EXON Missense_V1003I exm2237447 2 242432831 [T/C] NM_014808 FARP2 EXON Missense_R1007W exm284578 2 242435081 [T/C] NR_073533,NR_073530,NM_001271980,NM_001271979,NR_073531,NM_001271977,NM_001271978,NR_073532,NM_006374 STK25,STK25,STK25,STK25,STK25,STK25,STK25,STK25,STK25 EXON Silent,Silent,Missense_R349H,Missense_R349H,Silent,Missense_R426H,Missense_R426H,Silent,Missense_R426H exm284599 2 242437654 [T/G] NR_073533,NR_073530,NM_001271980,NM_001271979,NR_073531,NM_001271977,NM_001271978,NR_073532,NM_006374 STK25,STK25,STK25,STK25,STK25,STK25,STK25,STK25,STK25 EXON Silent,Silent,Missense_Q266P,Missense_Q266P,Silent,Missense_Q343P,Missense_Q343P,Silent,Missense_Q343P exm284632 2 242439587 [T/C] NR_073533,NR_073530,NM_001271980,NM_001271979,NR_073531,NM_001271977,NM_001271978,NR_073532,NM_006374 STK25,STK25,STK25,STK25,STK25,STK25,STK25,STK25,STK25 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm2265401 2 242470544 [A/G] exm2255224 2 242493511 [T/C] NR_033346 BOK-AS1 Silent exm284661 2 242498984 [C/G] NM_032515 BOK EXON Missense_A29G exm284668 2 242501804 [A/G] NM_032515 BOK EXON Missense_V88M exm-rs12479254 2 242502956 [T/C] NM_032515 BOK Silent exm284683 2 242509564 [T/C] NM_032515 BOK EXON Missense_S125F exm284691 2 242509638 [A/G] NM_032515 BOK EXON Missense_V150M exm284695 2 242509687 [A/G] NM_032515 BOK EXON Missense_R166Q exm284696 2 242509693 [A/G] NM_032515 BOK EXON Missense_R168H exm284701 2 242511751 [T/C] NM_032515 BOK EXON Missense_L185F exm2237455 2 242513552 [A/G] NM_032515 BOK EXON Silent exm284718 2 242541357 [T/C] NM_015963,NM_001164356 THAP4,THAP4 EXON Missense_H523R,Missense_H111R exm284732 2 242545879 [T/C] NM_015963,NM_001164356 THAP4,THAP4 EXON Missense_K417R,Missense_K5R exm284733 2 242545886 [A/G] NM_015963,NM_001164356 THAP4,THAP4 EXON Missense_P415S,Missense_P3S exm284750 2 242572829 [T/C] NM_015963 THAP4 EXON Missense_R248K exm284756 2 242572950 [G/C] NM_015963 THAP4 EXON Missense_G208R exm284758 2 242572953 [T/C] NM_015963 THAP4 EXON Missense_E207K exm2277230 2 242572986 [C/G] NM_015963 THAP4 EXON Missense_D196H exm284762 2 242572997 [T/G] NM_015963 THAP4 EXON Missense_A192E exm284771 2 242573178 [A/T] NM_015963 THAP4 EXON Missense_S132C exm284772 2 242573180 [A/G] NM_015963 THAP4 EXON Missense_S131L exm284773 2 242573186 [A/G] NM_015963 THAP4 EXON Missense_P129L exm284774 2 242573211 [T/C] NM_015963 THAP4 EXON Missense_S121G exm284775 2 242573217 [T/C] NM_015963 THAP4 EXON Missense_A119T exm284776 2 242573222 [T/C] NM_015963 THAP4 EXON Missense_S117N exm284780 2 242573270 [T/C] NM_015963 THAP4 EXON Missense_R101Q exm2237457 2 242592928 [T/G] NM_013325,NM_178326 ATG4B,ATG4B EXON Synonymous_G62G,Synonymous_G62G exm284805 2 242593011 [A/G] NM_013325,NM_178326 ATG4B,ATG4B EXON Missense_R90Q,Missense_R90Q exm284819 2 242606080 [A/G] NM_013325,NM_178326 ATG4B,ATG4B EXON Missense_V187I,Missense_V187I exm284825 2 242606119 [A/G] NM_013325,NM_178326 ATG4B,ATG4B EXON Missense_D200N,Missense_D200N exm284844 2 242608080 [A/C] NM_013325,NM_178326 ATG4B,ATG4B EXON Missense_L313I,Missense_L313I exm284849 2 242610172 [A/G] NM_013325,NM_178326 ATG4B,ATG4B EXON Missense_N330S,Missense_N330S exm284853 2 242610773 [A/T] NM_013325,NM_178326 ATG4B,ATG4B EXON Missense_L354Q,Missense_L354Q exm284855 2 242610794 [T/G] NM_013325,NM_178326 ATG4B,ATG4B EXON Missense_C361F,Missense_C361F exm284859 2 242611624 [A/G] NM_013325,NM_178326 ATG4B,ATG4B EXON Missense_R376Q,Silent exm284869 2 242615635 [T/G] NM_001165031,NR_033255,NM_012145 DTYMK,DTYMK,DTYMK EXON Missense_K158N,Silent,Missense_K182N exm284904 2 242648673 [T/C] NM_032329 ING5 EXON Missense_S51F exm284913 2 242648773 [T/G] NM_032329 ING5 EXON Missense_Q84H exm284919 2 242651459 [T/C] NM_032329 ING5 EXON Missense_T152I exm284949 2 242674803 [A/G] NM_152783 D2HGDH EXON Missense_R55Q exm284973 2 242683205 [A/G] NM_152783 D2HGDH EXON Missense_H220R exm284998 2 242689605 [T/C] NM_152783 D2HGDH EXON Missense_T298I exm285005 2 242690675 [A/G] NM_152783 D2HGDH EXON Missense_V338I exm285006 2 242690702 [A/G] NM_152783 D2HGDH EXON Missense_A347T exm285007 2 242690726 [A/G] NM_152783 D2HGDH EXON Missense_G355S exm285008 2 242690729 [T/C] NM_152783 D2HGDH EXON Missense_H356Y exm285011 2 242690745 [T/C] NM_152783 D2HGDH EXON Missense_A361V exm2014209 2 242695306 [T/C] NM_152783 D2HGDH EXON Missense_R395W exm285042 2 242695379 [A/G] NM_152783 D2HGDH EXON Missense_R419H exm285044 2 242695381 [A/G] NM_152783 D2HGDH EXON Missense_A420T exm285045 2 242695385 [A/G] NM_152783 D2HGDH EXON Missense_R421H exm285051 2 242707126 [A/G] NM_152783 D2HGDH EXON Synonymous_G436G exm285055 2 242707175 [T/C] NM_152783 D2HGDH EXON Missense_L453F exm285059 2 242707212 [T/C] NM_152783 D2HGDH EXON Missense_T465M exm285070 2 242716380 [T/A] NM_022134 GAL3ST2 EXON Missense_M4L exm285071 2 242716384 [A/T] NM_022134 GAL3ST2 EXON Missense_L5Q exm285072 2 242716387 [A/G] NM_022134 GAL3ST2 EXON Missense_G6D exm285074 2 242716400 [A/G] NM_022134 GAL3ST2 Silent exm285077 2 242738488 [A/G] NM_022134 GAL3ST2 EXON Missense_R13Q exm285085 2 242741222 [G/C] NM_022134 GAL3ST2 EXON Missense_P49R exm285106 2 242742812 [T/C] NM_022134 GAL3ST2 EXON Missense_P143L exm285108 2 242742837 [G/C] NM_022134 GAL3ST2 EXON Missense_F151L exm285109 2 242742842 [A/G] NM_022134 GAL3ST2 EXON Missense_Y153C exm285111 2 242742875 [T/C] NM_022134 GAL3ST2 EXON Missense_A164V exm285139 2 242743424 [T/C] NM_022134 GAL3ST2 EXON Missense_A347V exm285145 2 242743532 [T/C] NM_022134 GAL3ST2 EXON Missense_L383P exm285162 2 242755734 [T/C] NM_001167601,NM_001167600,NM_080741,NM_001167602,NM_001167599 NEU4,NEU4,NEU4,NEU4,NEU4 EXON Missense_T18M,Missense_T18M,Missense_T30M,Missense_T18M,Missense_T31M exm285169 2 242755776 [A/C] NM_001167601,NM_001167600,NM_080741,NM_001167602,NM_001167599 NEU4,NEU4,NEU4,NEU4,NEU4 EXON Missense_P32H,Missense_P32H,Missense_P44H,Missense_P32H,Missense_P45H exm285173 2 242755877 [A/G] NM_001167601,NM_001167600,NM_080741,NM_001167602,NM_001167599 NEU4,NEU4,NEU4,NEU4,NEU4 EXON Missense_V66M,Missense_V66M,Missense_V78M,Missense_V66M,Missense_V79M exm285174 2 242755880 [T/C] NM_001167601,NM_001167600,NM_080741,NM_001167602,NM_001167599 NEU4,NEU4,NEU4,NEU4,NEU4 EXON Missense_R67W,Missense_R67W,Missense_R79W,Missense_R67W,Missense_R80W exm285179 2 242756152 [T/C] NM_001167601,NM_001167600,NM_080741,NM_001167602,NM_001167599 NEU4,NEU4,NEU4,NEU4,NEU4 EXON Missense_P89S,Missense_P89S,Missense_P101S,Missense_P89S,Missense_P102S exm2014254 2 242756160 [C/G] NM_001167601,NM_001167600,NM_080741,NM_001167602,NM_001167599 NEU4,NEU4,NEU4,NEU4,NEU4 EXON Missense_H91Q,Missense_H91Q,Missense_H103Q,Missense_H91Q,Missense_H104Q exm285195 2 242756338 [A/G] NM_001167601,NM_001167600,NM_080741,NM_001167602,NM_001167599 NEU4,NEU4,NEU4,NEU4,NEU4 EXON Missense_V151M,Missense_V151M,Missense_V163M,Missense_V151M,Missense_V164M exm285206 2 242757460 [A/G] NM_001167601,NM_001167600,NM_080741,NM_001167602,NM_001167599 NEU4,NEU4,NEU4,NEU4,NEU4 EXON Missense_V181M,Missense_V181M,Missense_V193M,Missense_V181M,Missense_V194M exm285208 2 242757466 [T/C] NM_001167601,NM_001167600,NM_080741,NM_001167602,NM_001167599 NEU4,NEU4,NEU4,NEU4,NEU4 EXON Missense_R183C,Missense_R183C,Missense_R195C,Missense_R183C,Missense_R196C exm285210 2 242757494 [A/G] NM_001167601,NM_001167600,NM_080741,NM_001167602,NM_001167599 NEU4,NEU4,NEU4,NEU4,NEU4 EXON Missense_R192Q,Missense_R192Q,Missense_R204Q,Missense_R192Q,Missense_R205Q exm285218 2 242757680 [T/C] NM_001167601,NM_001167600,NM_080741,NM_001167602,NM_001167599 NEU4,NEU4,NEU4,NEU4,NEU4 EXON Missense_T254I,Missense_T254I,Missense_T266I,Missense_T254I,Missense_T267I exm285235 2 242758176 [A/C] NM_001167601,NM_001167600,NM_080741,NM_001167602,NM_001167599 NEU4,NEU4,NEU4,NEU4,NEU4 EXON Nonsense_Y419X,Nonsense_Y419X,Nonsense_Y431X,Nonsense_Y419X,Nonsense_Y432X exm285237 2 242758187 [T/C] NM_001167601,NM_001167600,NM_080741,NM_001167602,NM_001167599 NEU4,NEU4,NEU4,NEU4,NEU4 EXON Missense_A423V,Missense_A423V,Missense_A435V,Missense_A423V,Missense_A436V exm285245 2 242758210 [A/G] NM_001167601,NM_001167600,NM_080741,NM_001167602,NM_001167599 NEU4,NEU4,NEU4,NEU4,NEU4 EXON Missense_G431R,Missense_G431R,Missense_G443R,Missense_G431R,Missense_G444R exm285249 2 242758301 [T/C] NM_001167601,NM_001167600,NM_080741,NM_001167602,NM_001167599 NEU4,NEU4,NEU4,NEU4,NEU4 EXON Missense_L461P,Missense_L461P,Missense_L473P,Missense_L461P,Missense_L474P exm285263 2 242793287 [A/G] NM_005018 PDCD1 EXON Missense_R264C exm285264 2 242793290 [T/C] NM_005018 PDCD1 EXON Missense_A263T exm285267 2 242793362 [T/C] NM_005018 PDCD1 EXON Missense_V239M exm285272 2 242793433 [A/G] NM_005018 PDCD1 EXON Missense_A215V exm285283 2 242794356 [T/C] NM_005018 PDCD1 EXON Missense_A196T exm285293 2 242794796 [T/A] NM_005018 PDCD1 EXON Missense_L138Q exm285299 2 242794902 [T/C] NM_005018 PDCD1 EXON Missense_G103R exm285320 2 242811915 [T/C] NM_173821 CXXC11 EXON Missense_R3W exm285321 2 242811935 [A/G] NM_173821 CXXC11 EXON Nonsense_W9X exm285323 2 242811961 [T/C] NM_173821 CXXC11 EXON Missense_A18V exm285334 2 242813886 [T/C] NM_173821 CXXC11 EXON Missense_P60L exm285359 2 242814360 [T/C] NM_173821 CXXC11 EXON Missense_I218T exm285376 2 242814536 [T/G] NM_173821 CXXC11 EXON Missense_G277C exm285383 2 242814606 [T/C] NM_173821 CXXC11 EXON Missense_V300A exm285384 2 242814639 [T/C] NM_173821 CXXC11 EXON Missense_L311P exm285386 2 242814702 [T/C] NM_173821 CXXC11 EXON Missense_S332L exm285387 2 242814705 [T/C] NM_173821 CXXC11 EXON Missense_A333V exm285391 2 242814758 [A/G] NM_173821 CXXC11 EXON Missense_N351D exm285404 2 242814983 [T/C] NM_173821 CXXC11 EXON Missense_P426S exm285409 2 242815059 [T/C] NM_173821 CXXC11 EXON Missense_A451V exm285418 2 242815157 [T/C] NM_173821 CXXC11 EXON Missense_R484C exm285422 2 242815175 [A/G] NM_173821 CXXC11 EXON Missense_V490I exm2269245 2 242918203 [T/C] exm1517553 20 68363 [T/A] NM_153325 DEFB125 EXON Missense_M5L exm1517555 20 68396 [T/C] NM_153325 DEFB125 EXON Missense_R16W exm1973200 20 76700 [A/G] NM_153325 DEFB125 EXON Missense_R38Q exm1517564 20 76771 [T/C] NM_153325 DEFB125 EXON Missense_H62Y exm1973205 20 76915 [A/G] NM_153325 DEFB125 EXON Missense_T110A exm1517567 20 76920 [A/G] NM_153325 DEFB125 EXON Missense_M111I exm1517571 20 76978 [A/G] NM_153325 DEFB125 EXON Missense_E131K exm1517581 20 126085 [A/G] NM_030931 DEFB126 EXON Missense_D30N exm1517583 20 126100 [T/A] NM_030931 DEFB126 EXON Nonsense_K35X exm1517584 20 126149 [T/C] NM_030931 DEFB126 EXON Missense_M51T exm2275128 20 126161 [A/G] NM_030931 DEFB126 EXON Missense_Q55R exm1517590 20 126214 [A/G] NM_030931 DEFB126 EXON Missense_V73I exm1517591 20 126224 [A/G] NM_030931 DEFB126 EXON Missense_K76R exm1517622 20 139456 [A/G] NM_139074 DEFB127 EXON Missense_G31R exm1517626 20 139538 [A/G] NM_139074 DEFB127 EXON Missense_K58R exm1517629 20 139576 [A/C] NM_139074 DEFB127 EXON Missense_R71S exm1517630 20 139577 [A/G] NM_139074 DEFB127 EXON Missense_R71H exm1517639 20 168558 [A/G] NM_001037732 DEFB128 EXON Missense_I84T exm1517640 20 168591 [T/C] NM_001037732 DEFB128 EXON Missense_G73D exm2234113 20 168694 [T/C] NM_001037732 DEFB128 EXON Missense_G39R exm1517645 20 168728 [T/A] NM_001037732 DEFB128 EXON Missense_K27N exm1517646 20 168739 [T/A] NM_001037732 DEFB128 EXON Missense_C24S exm1517648 20 168758 [A/G] NM_001037732 DEFB128 EXON Synonymous_D17D exm1517651 20 170225 [T/C] NM_001037732 DEFB128 EXON Missense_V14I exm1517652 20 170263 [T/A] NM_001037732 DEFB128 EXON Missense_M1K exm2272869 20 182013 [T/C] exm1517664 20 209937 [A/G] NM_080831 DEFB129 EXON Missense_R26H exm1517666 20 209989 [A/C] NM_080831 DEFB129 EXON Missense_K43N exm1517667 20 210048 [T/C] NM_080831 DEFB129 EXON Missense_I63T exm2254185 20 210061 [A/G] NM_080831 DEFB129 EXON Synonymous_L67L exm1960457 20 210144 [T/G] NM_080831 DEFB129 EXON Missense_R95I exm1517674 20 210209 [T/G] NM_080831 DEFB129 EXON Missense_V117F exm1517675 20 210225 [T/C] NM_080831 DEFB129 EXON Missense_A122V exm1517679 20 210306 [C/G] NM_080831 DEFB129 EXON Missense_T149S exm1517682 20 238421 [A/T] NM_207469 DEFB132 EXON Missense_M1K exm2254196 20 238441 [T/C] NM_207469 DEFB132 EXON Synonymous_L8L exm1517695 20 239724 [T/C] NM_207469 DEFB132 EXON Missense_A22V exm1517700 20 239757 [T/G] NM_207469 DEFB132 EXON Missense_G33V exm1517706 20 239804 [T/C] NM_207469 DEFB132 EXON Missense_C49R exm1517708 20 239847 [A/C] NM_207469 DEFB132 EXON Missense_P63Q exm1517709 20 239867 [T/C] NM_207469 DEFB132 EXON Missense_L70F exm1517710 20 239873 [A/G] NM_207469 DEFB132 EXON Missense_G72S exm1517714 20 239936 [A/G] NM_207469 DEFB132 EXON Missense_V93I exm1517715 20 239937 [T/C] NM_207469 DEFB132 EXON Missense_V93A exm1517716 20 239946 [A/C] NM_207469 DEFB132 EXON Missense_X96S exm1517719 20 251883 [C/G] NM_153269,NM_080571 C20orf96,C20orf96 EXON Missense_L353V,Missense_L352V exm1517723 20 256618 [T/C] NM_153269,NM_080571 C20orf96,C20orf96 EXON Missense_R341Q,Missense_R340Q exm1517727 20 256649 [A/G] NM_153269,NM_080571 C20orf96,C20orf96 EXON Nonsense_R331X,Nonsense_R330X exm1517732 20 256727 [A/T] NM_153269,NM_080571 C20orf96,C20orf96 EXON Missense_I305F,Missense_I304F exm1517749 20 257899 [A/G] NM_153269,NM_080571 C20orf96,C20orf96 EXON Missense_R231C,Missense_R230C exm1517756 20 258001 [C/G] NM_153269,NM_080571 C20orf96,C20orf96 EXON Missense_L197V,Missense_L196V exm1517757 20 258970 [T/C] NM_153269,NM_080571 C20orf96,C20orf96 Silent,Silent exm1517774 20 259883 [G/C] NM_153269,NM_080571 C20orf96,C20orf96 EXON Missense_T132S,Missense_T131S exm1517779 20 264603 [T/C] NM_153269,NM_080571 C20orf96,C20orf96 Silent,Silent exm1517780 20 264628 [T/C] NM_153269,NM_080571 C20orf96,C20orf96 EXON Missense_M94I,Missense_M93I exm1517887 20 330408 [G/C] NM_024958 NRSN2 EXON Missense_L41V exm2254233 20 333871 [A/G] NM_024958 NRSN2 EXON Synonymous_G69G exm1517900 20 334001 [A/G] NM_024958 NRSN2 EXON Missense_G113S exm1517908 20 334142 [G/C] NM_024958 NRSN2 EXON Missense_E160Q exm1517911 20 334188 [A/G] NM_024958 NRSN2 EXON Missense_R175H exm-rs6051520 20 351944 [T/G] exm1517946 20 368739 [T/C] NM_021158 TRIB3 EXON Missense_R29C exm1517947 20 368740 [A/G] NM_021158 TRIB3 EXON Missense_R29H exm1517949 20 368760 [T/C] NM_021158 TRIB3 EXON Nonsense_R36X exm1517950 20 368761 [A/G] NM_021158 TRIB3 EXON Missense_R36Q exm1517954 20 368827 [A/G] NM_021158 TRIB3 EXON Missense_R58H exm1517955 20 368854 [A/G] NM_021158 TRIB3 EXON Missense_R67H exm1517956 20 368877 [A/G] NM_021158 TRIB3 EXON Missense_E75K exm1517957 20 368883 [A/G] NM_021158 TRIB3 EXON Missense_E77K exm1517958 20 368890 [C/G] NM_021158 TRIB3 EXON Missense_G79A exm1517960 20 368905 [A/G] NM_021158 TRIB3 EXON Missense_Q84R exm1517964 20 371958 [A/G] NM_021158 TRIB3 EXON Missense_V107M exm1517972 20 372076 [A/G] NM_021158 TRIB3 EXON Missense_S146N exm2234419 20 372096 [T/C] NM_021158 TRIB3 EXON Missense_R153C exm1517976 20 372097 [A/G] NM_021158 TRIB3 EXON Missense_R153H exm1517980 20 372151 [T/C] NM_021158 TRIB3 EXON Missense_A171V exm1517985 20 372172 [T/C] NM_021158 TRIB3 EXON Missense_L178P exm1517986 20 372180 [T/C] NM_021158 TRIB3 EXON Missense_R181C exm2254264 20 376857 [A/G] NM_021158 TRIB3 EXON Synonymous_L200L exm1517996 20 376931 [A/G] NM_021158 TRIB3 EXON Missense_Y225C exm1517997 20 376933 [A/G] NM_021158 TRIB3 EXON Missense_V226M exm1518000 20 376958 [A/G] NM_021158 TRIB3 EXON Missense_R234Q exm1518003 20 376970 [T/C] NM_021158 TRIB3 EXON Missense_S238L exm1518006 20 377002 [A/G] NM_021158 TRIB3 EXON Missense_V249M exm1518013 20 377080 [T/C] NM_021158 TRIB3 EXON Missense_R275C exm1518014 20 377081 [A/G] NM_021158 TRIB3 EXON Missense_R275H exm1518015 20 377083 [A/G] NM_021158 TRIB3 EXON Missense_G276R exm1518016 20 377092 [A/G] NM_021158 TRIB3 EXON Missense_A279T exm1518018 20 377122 [A/C] NM_021158 TRIB3 EXON Missense_R289S exm1518027 20 377258 [A/G] NM_021158 TRIB3 EXON Missense_Q334R exm1518030 20 377296 [A/G] NM_021158 TRIB3 EXON Missense_E347K exm1518034 20 389393 [A/C] NM_006462,NM_031229 RBCK1,RBCK1 EXON Missense_A4D,Silent exm1518040 20 390552 [A/G] NM_006462,NM_031229 RBCK1,RBCK1 EXON Silent,Missense_R17Q exm1518054 20 398175 [C/G] NM_006462,NM_031229 RBCK1,RBCK1 EXON Missense_W16S,Missense_W58S exm2234448 20 400365 [A/G] NM_006462,NM_031229 RBCK1,RBCK1 EXON Missense_Q207R,Missense_Q249R exm1518086 20 401566 [G/C] NM_006462,NM_031229 RBCK1,RBCK1 EXON Missense_Q228E,Missense_Q270E exm1518091 20 402851 [T/C] NM_006462,NM_031229 RBCK1,RBCK1 EXON Missense_S291L,Missense_S333L exm1518096 20 408017 [T/C] NM_006462,NM_031229 RBCK1,RBCK1 EXON Missense_R322C,Missense_R364C exm1518107 20 409595 [A/G] NM_006462,NM_031229 RBCK1,RBCK1 EXON Missense_V395M,Missense_V437M exm1518109 20 409623 [A/G] NM_006462,NM_031229 RBCK1,RBCK1 EXON Missense_R404H,Missense_R446H exm1518112 20 409676 [T/C] NM_006462,NM_031229 RBCK1,RBCK1 EXON Missense_R422C,Missense_R464C exm1518149 20 419483 [A/G] NM_144628 TBC1D20 EXON Missense_T320M exm1518168 20 422514 [T/C] NM_144628 TBC1D20 EXON Missense_T171A exm1518185 20 428553 [T/C] NM_144628 TBC1D20 EXON Missense_N79S exm1518206 20 467035 [T/C] NM_177560,NM_001895,NM_177559 CSNK2A1,CSNK2A1,CSNK2A1 EXON Missense_A213T,Missense_A349T,Missense_A349T exm1518223 20 478390 [T/C] NM_177560,NM_001895,NM_177559 CSNK2A1,CSNK2A1,CSNK2A1 EXON Silent,Missense_R134Q,Missense_R134Q exm1518238 20 585269 [A/C] NM_004609 TCF15 EXON Missense_R189M exm1518251 20 590569 [C/G] NM_004609 TCF15 EXON Missense_D105H exm1518268 20 629444 [A/G] NM_080725 SRXN1 EXON Nonsense_R110X exm1518310 20 656205 [T/C] NM_033129 SCRT2 EXON Missense_G14D exm1518316 20 741699 [A/C] NM_033409 SLC52A3 EXON Missense_D461Y exm1518317 20 741709 [G/C] NM_033409 SLC52A3 EXON Missense_F457L exm1518341 20 744167 [A/T] NM_033409 SLC52A3 EXON Missense_L350M exm1518353 20 744308 [T/C] NM_033409 SLC52A3 EXON Missense_I303V exm1518355 20 744325 [A/G] NM_033409 SLC52A3 EXON Missense_P297L exm1518356 20 744350 [T/C] NM_033409 SLC52A3 EXON Missense_E289K exm1518358 20 744382 [A/G] NM_033409 SLC52A3 EXON Missense_T278M exm1518364 20 744415 [A/G] NM_033409 SLC52A3 EXON Missense_P267L exm1518366 20 744428 [A/G] NM_033409 SLC52A3 EXON Missense_H263Y exm1518387 20 745898 [T/C] NM_033409 SLC52A3 EXON Missense_D174G exm1518396 20 746024 [T/C] NM_033409 SLC52A3 EXON Missense_R132Q exm1518411 20 746197 [C/G] NM_033409 SLC52A3 EXON Missense_I74M exm1518413 20 746216 [G/C] NM_033409 SLC52A3 EXON Missense_C68S exm1518417 20 746357 [T/C] NM_033409 SLC52A3 EXON Missense_N21S exm1518418 20 746361 [T/G] NM_033409 SLC52A3 EXON Missense_I20L exm2254406 20 746410 [A/G] NM_033409 SLC52A3 EXON Synonymous_F3F exm1518436 20 825607 [A/G] NM_001042353,NM_207121,NM_031424 FAM110A,FAM110A,FAM110A EXON Missense_V54I,Missense_V54I,Missense_V54I exm1518443 20 825761 [A/C] NM_001042353,NM_207121,NM_031424 FAM110A,FAM110A,FAM110A EXON Missense_D105A,Missense_D105A,Missense_D105A exm1518450 20 825992 [T/C] NM_001042353,NM_207121,NM_031424 FAM110A,FAM110A,FAM110A EXON Missense_P182L,Missense_P182L,Missense_P182L exm1518453 20 826115 [A/G] NM_001042353,NM_207121,NM_031424 FAM110A,FAM110A,FAM110A EXON Missense_H223R,Missense_H223R,Missense_H223R exm2254409 20 826140 [A/C] NM_001042353,NM_207121,NM_031424 FAM110A,FAM110A,FAM110A EXON Synonymous_I231I,Synonymous_I231I,Synonymous_I231I exm1518460 20 826208 [T/C] NM_001042353,NM_207121,NM_031424 FAM110A,FAM110A,FAM110A EXON Missense_V254A,Missense_V254A,Missense_V254A exm1518481 20 854962 [T/C] NM_015985 ANGPT4 EXON Missense_H439R exm1518489 20 858841 [T/C] NM_015985 ANGPT4 EXON Missense_E395K exm1518503 20 860442 [T/C] NM_015985 ANGPT4 EXON Missense_R334H exm1518506 20 861821 [A/G] NM_015985 ANGPT4 EXON Missense_P315L exm1518531 20 869033 [A/C] NM_015985 ANGPT4 EXON Missense_L172R exm1518535 20 870867 [T/C] NM_015985 ANGPT4 EXON Missense_M152V exm1518536 20 870881 [T/C] NM_015985 ANGPT4 EXON Missense_R147H exm1518543 20 870989 [A/G] NM_015985 ANGPT4 EXON Missense_I111T exm1518549 20 896574 [T/C] NM_015985 ANGPT4 EXON Missense_Q95R exm1518551 20 896590 [T/G] NM_015985 ANGPT4 EXON Missense_L90M exm1518555 20 896658 [A/G] NM_015985 ANGPT4 EXON Missense_T67I exm1518556 20 896688 [A/G] NM_015985 ANGPT4 EXON Missense_P57L exm1518557 20 896715 [A/G] NM_015985 ANGPT4 EXON Missense_L48S exm1973390 20 896790 [A/T] NM_015985 ANGPT4 EXON Missense_Q23L exm2275129 20 941071 [A/G] NM_001040007,NM_001029871 RSPO4,RSPO4 EXON Missense_R150C,Missense_R212C exm1518576 20 944602 [A/G] NM_001040007,NM_001029871 RSPO4,RSPO4 EXON Silent,Missense_P191S exm1518579 20 944649 [T/G] NM_001040007,NM_001029871 RSPO4,RSPO4 EXON Silent,Missense_H175P exm1518587 20 944718 [T/G] NM_001040007,NM_001029871 RSPO4,RSPO4 EXON Silent,Missense_H152P exm1518589 20 947829 [A/G] NM_001040007,NM_001029871 RSPO4,RSPO4 EXON Missense_R133W,Missense_R133W exm1518592 20 947859 [G/C] NM_001040007,NM_001029871 RSPO4,RSPO4 EXON Missense_P123A,Missense_P123A exm1518596 20 947909 [T/C] NM_001040007,NM_001029871 RSPO4,RSPO4 EXON Missense_R106Q,Missense_R106Q exm1973481 20 948617 [A/C] NM_001040007,NM_001029871 RSPO4,RSPO4 EXON Missense_G82C,Missense_G82C exm1518609 20 948686 [A/G] NM_001040007,NM_001029871 RSPO4,RSPO4 EXON Missense_R59C,Missense_R59C exm1518610 20 948689 [T/C] NM_001040007,NM_001029871 RSPO4,RSPO4 EXON Missense_I58V,Missense_I58V exm1518612 20 948716 [T/G] NM_001040007,NM_001029871 RSPO4,RSPO4 EXON Missense_T49P,Missense_T49P exm1518615 20 948767 [T/C] NM_001040007,NM_001029871 RSPO4,RSPO4 EXON Missense_G32R,Missense_G32R exm1973538 20 982768 [A/C] NM_001040007,NM_001029871 RSPO4,RSPO4 EXON Missense_A14S,Missense_A14S exm2272870 20 1098486 [T/C] NM_178578 PSMF1 Silent exm1518628 20 1099523 [T/G] NM_178578,NM_006814 PSMF1,PSMF1 EXON Missense_F36C,Missense_F36C exm1518645 20 1115796 [A/G] NM_178578,NM_006814 PSMF1,PSMF1 EXON Missense_R133H,Missense_R133H exm1518648 20 1115820 [T/C] NM_178578,NM_006814 PSMF1,PSMF1 EXON Missense_P141L,Missense_P141L exm1518650 20 1115864 [T/C] NM_178578,NM_006814 PSMF1,PSMF1 EXON Missense_R156W,Missense_R156W exm2275130 20 1115865 [A/G] NM_178578,NM_006814 PSMF1,PSMF1 EXON Missense_R156Q,Missense_R156Q exm1518652 20 1115870 [T/A] NM_178578,NM_006814 PSMF1,PSMF1 EXON Missense_F158I,Missense_F158I exm1518655 20 1115919 [A/G] NM_178578,NM_006814 PSMF1,PSMF1 EXON Missense_H174R,Missense_H174R exm1518658 20 1143791 [T/C] NM_178578,NM_006814 PSMF1,PSMF1 EXON Missense_P190L,Missense_P190L exm1518659 20 1143797 [T/C] NM_178578,NM_006814 PSMF1,PSMF1 EXON Missense_V192A,Missense_V192A exm1518661 20 1144967 [A/G] NM_178578,NM_006814 PSMF1,PSMF1 EXON Missense_R204Q,Missense_R204Q exm1518663 20 1145000 [T/C] NM_178578,NM_006814 PSMF1,PSMF1 EXON Missense_S215F,Missense_S215F exm2234072 20 1145683 [A/G] NM_178578,NM_006814 PSMF1,PSMF1 EXON Missense_D259N,Missense_D259N exm2254147 20 1161558 [A/G] NM_018354 TMEM74B EXON Synonymous_G235G exm1518698 20 1161913 [T/C] NM_018354 TMEM74B EXON Missense_R117H exm1518699 20 1161920 [T/C] NM_018354 TMEM74B EXON Missense_V115M exm1518702 20 1161976 [T/C] NM_018354 TMEM74B EXON Missense_R96Q exm1518703 20 1161977 [A/G] NM_018354 TMEM74B EXON Nonsense_R96X exm1518704 20 1161994 [A/C] NM_018354 TMEM74B EXON Missense_G90V exm1518717 20 1164417 [A/G] NM_018354 TMEM74B EXON Missense_A10V exm1518718 20 1164424 [T/C] NM_018354 TMEM74B EXON Missense_E8K exm1518725 20 1184297 [T/C] NM_001009612 C20orf202 Silent exm1518726 20 1187586 [A/G] NM_001009612 C20orf202 EXON Missense_R70H exm-rs397020 20 1205886 [T/C] exm1518736 20 1210647 [T/C] NM_001136566 RAD21L1 EXON Missense_C90R exm1518738 20 1212260 [T/C] NM_001136566 RAD21L1 EXON Missense_M122T exm1518742 20 1214814 [A/C] NM_001136566 RAD21L1 EXON Missense_I152L exm1518745 20 1220967 [A/G] NM_001136566 RAD21L1 EXON Missense_E249K exm1518757 20 1224758 [A/G] NM_001136566 RAD21L1 EXON Missense_I418V exm1518758 20 1224762 [A/G] NM_001136566 RAD21L1 EXON Missense_G419D exm1518759 20 1224774 [A/C] NM_001136566 RAD21L1 EXON Missense_H423P exm1518765 20 1226941 [G/C] NM_001136566 RAD21L1 EXON Missense_V466L exm1518769 20 1235040 [A/G] NM_001136566 RAD21L1 EXON Missense_S537N exm1959178 20 1277824 [A/G] NM_014723 SNPH EXON Missense_Y29C exm1518783 20 1277890 [T/C] NM_014723 SNPH EXON Missense_T51M exm1518793 20 1285641 [A/G] NM_014723 SNPH EXON Missense_K143R exm2234079 20 1285893 [T/G] NM_014723 SNPH EXON Missense_R227L exm1518809 20 1285983 [T/C] NM_014723 SNPH EXON Missense_A257V exm1518814 20 1286015 [T/G] NM_014723 SNPH EXON Missense_V268L exm1518818 20 1286058 [T/G] NM_014723 SNPH EXON Missense_G282V exm1518820 20 1286088 [A/C] NM_014723 SNPH EXON Missense_T292N exm1518821 20 1286091 [A/G] NM_014723 SNPH EXON Missense_Y293C exm1518823 20 1286102 [G/C] NM_014723 SNPH EXON Missense_L297V exm1518834 20 1286349 [A/T] NM_014723 SNPH EXON Missense_I379N exm1518839 20 1286379 [T/G] NM_014723 SNPH EXON Missense_G389V exm1518843 20 1286481 [A/G] NM_014723 SNPH EXON Missense_R423H exm1518868 20 1292989 [T/C] NR_037661,NM_001199784,NM_080489,NM_015685 FKBP1A-SDCBP2,SDCBP2,SDCBP2,SDCBP2 EXON Silent,Missense_G242R,Missense_G242R,Missense_G157R exm1518871 20 1293019 [T/C] NR_037661,NM_001199784,NM_080489,NM_015685 FKBP1A-SDCBP2,SDCBP2,SDCBP2,SDCBP2 EXON Silent,Missense_V232M,Missense_V232M,Missense_V147M exm1518874 20 1293046 [A/G] NR_037661,NM_001199784,NM_080489,NM_015685 FKBP1A-SDCBP2,SDCBP2,SDCBP2,SDCBP2 EXON Silent,Missense_R223C,Missense_R223C,Missense_R138C exm1518875 20 1293072 [A/G] NR_037661,NM_001199784,NM_080489,NM_015685 FKBP1A-SDCBP2,SDCBP2,SDCBP2,SDCBP2 EXON Silent,Missense_S214F,Missense_S214F,Missense_S129F exm1959206 20 1293130 [T/C] NR_037661,NM_001199784,NM_080489,NM_015685 FKBP1A-SDCBP2,SDCBP2,SDCBP2,SDCBP2 EXON Silent,Missense_M195V,Missense_M195V,Missense_M110V exm1518880 20 1293141 [T/C] NR_037661,NM_001199784,NM_080489,NM_015685 FKBP1A-SDCBP2,SDCBP2,SDCBP2,SDCBP2 EXON Silent,Missense_R191Q,Missense_R191Q,Missense_R106Q exm1518883 20 1293247 [T/C] NR_037661,NM_001199784,NM_080489,NM_015685 FKBP1A-SDCBP2,SDCBP2,SDCBP2,SDCBP2 EXON Silent,Missense_V182M,Missense_V182M,Missense_V97M exm1518887 20 1293322 [T/C] NR_037661,NM_001199784,NM_080489,NM_015685 FKBP1A-SDCBP2,SDCBP2,SDCBP2,SDCBP2 EXON Silent,Missense_G157R,Missense_G157R,Missense_G72R exm1518892 20 1293403 [A/G] NR_037661,NM_001199784,NM_080489,NM_015685 FKBP1A-SDCBP2,SDCBP2,SDCBP2,SDCBP2 EXON Silent,Missense_L130F,Missense_L130F,Missense_L45F exm1518895 20 1294049 [A/G] NR_037661,NM_001199784,NM_080489,NM_015685 FKBP1A-SDCBP2,SDCBP2,SDCBP2,SDCBP2 EXON Silent,Missense_R107C,Missense_R107C,Missense_R22C exm1518897 20 1294054 [C/G] NR_037661,NM_001199784,NM_080489,NM_015685 FKBP1A-SDCBP2,SDCBP2,SDCBP2,SDCBP2 EXON Silent,Missense_G105A,Missense_G105A,Missense_G20A exm1518899 20 1294073 [A/G] NR_037661,NM_001199784,NM_080489,NM_015685 FKBP1A-SDCBP2,SDCBP2,SDCBP2,SDCBP2 EXON Silent,Nonsense_R99X,Nonsense_R99X,Nonsense_R14X exm1518911 20 1299014 [A/T] NR_037661,NM_001199784,NM_080489 FKBP1A-SDCBP2,SDCBP2,SDCBP2 EXON Silent,Missense_L58H,Missense_L58H exm1518918 20 1301012 [T/C] NR_037661,NM_001199784,NM_080489 FKBP1A-SDCBP2,SDCBP2,SDCBP2 EXON Silent,Missense_I17V,Missense_I17V exm1518937 20 1424531 [T/C] NR_038164,NM_001206736,NM_016143,NM_018839 NSFL1C,NSFL1C,NSFL1C,NSFL1C EXON Silent,Missense_V328M,Missense_V326M,Missense_V295M exm1518941 20 1426320 [T/G] NR_038164,NM_001206736,NM_016143,NM_018839 NSFL1C,NSFL1C,NSFL1C,NSFL1C EXON Silent,Missense_H316P,Missense_H314P,Missense_H283P exm1518949 20 1426393 [T/C] NR_038164,NM_001206736,NM_016143,NM_018839 NSFL1C,NSFL1C,NSFL1C,NSFL1C EXON Silent,Missense_D292N,Missense_D290N,Missense_D259N exm1518954 20 1426431 [T/G] NR_038164,NM_001206736,NM_016143,NM_018839 NSFL1C,NSFL1C,NSFL1C,NSFL1C EXON Silent,Missense_A279E,Missense_A277E,Missense_A246E exm1518964 20 1433682 [T/C] NR_038164,NM_001206736,NM_016143,NM_018839 NSFL1C,NSFL1C,NSFL1C,NSFL1C EXON Silent,Missense_R216H,Missense_R214H,Missense_R183H exm1518989 20 1456897 [T/C] NM_001134836,NM_001122962 SIRPB2,SIRPB2 EXON Missense_R217Q,Missense_R315Q exm1518991 20 1456929 [A/C] NM_001134836,NM_001122962 SIRPB2,SIRPB2 EXON Missense_L206F,Missense_L304F exm1518992 20 1456964 [T/C] NM_001134836,NM_001122962 SIRPB2,SIRPB2 EXON Missense_A195T,Missense_A293T exm1518993 20 1456970 [T/C] NM_001134836,NM_001122962 SIRPB2,SIRPB2 EXON Missense_V193M,Missense_V291M exm1519002 20 1459025 [T/C] NM_001134836,NM_001122962 SIRPB2,SIRPB2 EXON Missense_I129V,Missense_I227V exm1519005 20 1459060 [T/G] NM_001134836,NM_001122962 SIRPB2,SIRPB2 EXON Missense_E117A,Missense_E215A exm1519012 20 1459244 [A/C] NM_001134836,NM_001122962 SIRPB2,SIRPB2 EXON Missense_D56Y,Missense_D154Y exm1519013 20 1459246 [T/C] NM_001134836,NM_001122962 SIRPB2,SIRPB2 EXON Missense_G55E,Missense_G153E exm1519014 20 1460354 [A/G] NM_001134836,NM_001122962 SIRPB2,SIRPB2 EXON Silent,Missense_L148F exm1519021 20 1460491 [A/G] NM_001134836,NM_001122962 SIRPB2,SIRPB2 EXON Silent,Missense_T102I exm1519028 20 1460663 [T/C] NM_001134836,NM_001122962 SIRPB2,SIRPB2 EXON Missense_E45K,Missense_E45K exm1519029 20 1460674 [A/C] NM_001134836,NM_001122962 SIRPB2,SIRPB2 EXON Missense_V41G,Missense_V41G exm1519030 20 1460686 [A/T] NM_001134836,NM_001122962 SIRPB2,SIRPB2 EXON Missense_N37I,Missense_N37I exm1519034 20 1471984 [C/G] NM_001134836,NM_001122962 SIRPB2,SIRPB2 EXON Missense_P8A,Missense_P8A exm1519037 20 1515086 [A/G] NM_178460 SIRPD EXON Synonymous_G193G exm1519038 20 1515087 [A/C] NM_178460 SIRPD EXON Missense_G193V exm1519047 20 1517885 [T/G] NM_178460 SIRPD EXON Missense_T165P exm2275352 20 1532337 [A/C] NM_178460 SIRPD EXON Nonsense_E141X exm2234103 20 1532401 [C/G] NM_178460 SIRPD EXON Missense_K119N exm1519059 20 1532444 [T/C] NM_178460 SIRPD EXON Missense_R105H exm1519064 20 1532552 [T/C] NM_178460 SIRPD EXON Missense_G69E exm1519065 20 1532580 [A/C] NM_178460 SIRPD EXON Nonsense_G60X exm1519066 20 1532586 [A/G] NM_178460 SIRPD EXON Missense_P58S exm1519067 20 1532595 [T/C] NM_178460 SIRPD EXON Missense_N55D exm2254161 20 1538249 [T/C] NM_178460 SIRPD EXON Synonymous_L17L exm1519083 20 1546802 [C/G] NM_001083910,NM_006065 SIRPB1,SIRPB1 EXON Missense_X182S,Missense_X399S exm1519084 20 1546805 [A/G] NM_001083910,NM_006065 SIRPB1,SIRPB1 EXON Missense_A181V,Missense_A398V exm1519085 20 1546886 [T/A] NM_001083910,NM_006065 SIRPB1,SIRPB1 EXON Missense_L154H,Missense_L371H exm1519088 20 1546911 [G/C] NM_001083910,NM_006065 SIRPB1,SIRPB1 EXON Missense_A146P,Missense_A363P exm1519092 20 1551486 [A/G] NM_001083910,NM_006065 SIRPB1,SIRPB1 EXON Silent,Missense_A350V exm1519096 20 1551564 [T/C] NM_001083910,NM_006065 SIRPB1,SIRPB1 EXON Silent,Missense_D324G exm1519100 20 1551621 [T/C] NM_001083910,NM_006065 SIRPB1,SIRPB1 EXON Silent,Missense_K305R exm1519103 20 1551654 [T/C] NM_001083910,NM_006065 SIRPB1,SIRPB1 EXON Silent,Missense_R294Q exm1519114 20 1552430 [T/C] NM_001083910,NM_006065 SIRPB1,SIRPB1 EXON Silent,Missense_I229M exm1519158 20 1559120 [T/G] NM_001083910,NM_006065 SIRPB1,SIRPB1 EXON Missense_N99K,Missense_N99K exm1519175 20 1559259 [T/C] NM_001083910,NM_006065 SIRPB1,SIRPB1 EXON Missense_R53H,Missense_R53H exm2254162 20 1559330 [A/C] NM_001083910,NM_006065 SIRPB1,SIRPB1 EXON Synonymous_G29G,Synonymous_G29G exm-rs2281808 20 1610551 [T/C] NM_001039508,NM_080816,NM_018556 SIRPG,SIRPG,SIRPG Silent,Silent,Silent exm1519254 20 1615934 [T/G] NM_001039508,NM_080816,NM_018556 SIRPG,SIRPG,SIRPG EXON Silent,Silent,Missense_Q354K exm1519256 20 1615970 [A/G] NM_001039508,NM_080816,NM_018556 SIRPG,SIRPG,SIRPG EXON Silent,Silent,Missense_R342C exm1519258 20 1615981 [A/G] NM_001039508,NM_080816,NM_018556 SIRPG,SIRPG,SIRPG EXON Silent,Silent,Missense_A338V exm1519263 20 1616096 [A/G] NM_001039508,NM_080816,NM_018556 SIRPG,SIRPG,SIRPG EXON Silent,Silent,Missense_L300F exm1519264 20 1616101 [A/G] NM_001039508,NM_080816,NM_018556 SIRPG,SIRPG,SIRPG EXON Silent,Silent,Missense_S298L exm1519268 20 1616137 [A/G] NM_001039508,NM_080816,NM_018556 SIRPG,SIRPG,SIRPG EXON Silent,Silent,Missense_S286L exm1519280 20 1616924 [T/C] NM_001039508,NM_080816,NM_018556 SIRPG,SIRPG,SIRPG EXON Missense_V220I,Silent,Missense_V220I exm1519283 20 1616986 [T/G] NM_001039508,NM_080816,NM_018556 SIRPG,SIRPG,SIRPG EXON Missense_T199K,Silent,Missense_T199K exm1519290 20 1617125 [T/C] NM_001039508,NM_080816,NM_018556 SIRPG,SIRPG,SIRPG EXON Missense_G153S,Silent,Missense_G153S exm1519301 20 1629805 [T/C] NM_001039508,NM_080816,NM_018556 SIRPG,SIRPG,SIRPG EXON Missense_S108N,Missense_S108N,Missense_S108N exm1519313 20 1629967 [A/G] NM_001039508,NM_080816,NM_018556 SIRPG,SIRPG,SIRPG EXON Missense_T54I,Missense_T54I,Missense_T54I exm1519320 20 1630046 [T/C] NM_001039508,NM_080816,NM_018556 SIRPG,SIRPG,SIRPG EXON Missense_G28S,Missense_G28S,Missense_G28S exm1519321 20 1638293 [A/T] NM_001039508,NM_080816,NM_018556 SIRPG,SIRPG,SIRPG EXON Missense_L23H,Missense_L23H,Missense_L23H exm1519324 20 1638334 [T/A] NM_001039508,NM_080816,NM_018556 SIRPG,SIRPG,SIRPG EXON Missense_H9Q,Missense_H9Q,Missense_H9Q exm2268263 20 1771233 [A/G] exm1519370 20 1896100 [T/C] NM_001040022,NM_080792,NM_001040023 SIRPA,SIRPA,SIRPA EXON Synonymous_R145R,Synonymous_R145R,Synonymous_R145R exm1519383 20 1902205 [A/G] NM_001040022,NM_080792,NM_001040023 SIRPA,SIRPA,SIRPA EXON Missense_V201I,Missense_V201I,Missense_V201I exm1519439 20 1918086 [A/G] NM_001040022,NM_080792,NM_001040023 SIRPA,SIRPA,SIRPA EXON Missense_A463T,Missense_A463T,Missense_A463T exm2254176 20 1918088 [A/G] NM_001040022,NM_080792,NM_001040023 SIRPA,SIRPA,SIRPA EXON Synonymous_A463A,Synonymous_A463A,Synonymous_A463A exm2254177 20 1918154 [A/G] NM_001040022,NM_080792,NM_001040023 SIRPA,SIRPA,SIRPA EXON Synonymous_P485P,Synonymous_P485P,Synonymous_P485P exm1519448 20 1918204 [T/C] NM_001040022,NM_080792,NM_001040023 SIRPA,SIRPA,SIRPA EXON Missense_P502L,Missense_P502L,Missense_P502L exm-rs6136489 20 1923734 [T/G] exm-rs6045676 20 1941171 [G/C] exm1960131 20 1961018 [T/C] NM_001190892,NM_001190900,NM_024411,NM_001190899,NM_001190898 PDYN,PDYN,PDYN,PDYN,PDYN EXON Missense_R239Q,Missense_R239Q,Missense_R239Q,Missense_R239Q,Missense_R239Q exm1519453 20 1961022 [T/C] NM_001190892,NM_001190900,NM_024411,NM_001190899,NM_001190898 PDYN,PDYN,PDYN,PDYN,PDYN EXON Missense_T238A,Missense_T238A,Missense_T238A,Missense_T238A,Missense_T238A exm1519459 20 1961099 [T/C] NM_001190892,NM_001190900,NM_024411,NM_001190899,NM_001190898 PDYN,PDYN,PDYN,PDYN,PDYN EXON Missense_R212Q,Missense_R212Q,Missense_R212Q,Missense_R212Q,Missense_R212Q exm1519467 20 1961159 [T/A] NM_001190892,NM_001190900,NM_024411,NM_001190899,NM_001190898 PDYN,PDYN,PDYN,PDYN,PDYN EXON Missense_E192V,Missense_E192V,Missense_E192V,Missense_E192V,Missense_E192V exm1519471 20 1961258 [T/C] NM_001190892,NM_001190900,NM_024411,NM_001190899,NM_001190898 PDYN,PDYN,PDYN,PDYN,PDYN EXON Missense_G159D,Missense_G159D,Missense_G159D,Missense_G159D,Missense_G159D exm1519487 20 1963625 [A/C] NM_001190892,NM_001190900,NM_024411,NM_001190899,NM_001190898 PDYN,PDYN,PDYN,PDYN,PDYN EXON Missense_G36C,Missense_G36C,Missense_G36C,Missense_G36C,Missense_G36C exm1519493 20 1963672 [A/G] NM_001190892,NM_001190900,NM_024411,NM_001190899,NM_001190898 PDYN,PDYN,PDYN,PDYN,PDYN EXON Missense_A20V,Missense_A20V,Missense_A20V,Missense_A20V,Missense_A20V exm-rs6112672 20 2046772 [T/G] exm2268320 20 2186970 [A/G] exm1519538 20 2290333 [A/C] NM_003245 TGM3 EXON Missense_T13K exm1519550 20 2290875 [A/G] NM_003245 TGM3 EXON Missense_N78S exm1519553 20 2290970 [T/C] NM_003245 TGM3 EXON Missense_R110W exm1519559 20 2291722 [A/C] NM_003245 TGM3 EXON Missense_I163L exm1519568 20 2297721 [A/G] NM_003245 TGM3 EXON Missense_S226N exm1519595 20 2306553 [A/G] NM_003245 TGM3 EXON Missense_G348S exm1519610 20 2308942 [T/G] NM_003245 TGM3 EXON Missense_Y422D exm2254192 20 2315805 [A/G] NM_003245 TGM3 EXON Synonymous_K562K exm1519667 20 2321094 [A/G] NM_003245 TGM3 EXON Missense_G650E exm1519670 20 2321111 [T/C] NM_003245 TGM3 EXON Missense_R656W exm1519671 20 2321138 [T/C] NM_003245 TGM3 EXON Missense_R665W exm1519672 20 2321139 [A/G] NM_003245 TGM3 EXON Missense_R665Q exm1519673 20 2321163 [T/C] NM_003245 TGM3 EXON Missense_A673V exm2234166 20 2321167 [G/C] NM_003245 TGM3 EXON Missense_D674E exm1519675 20 2321183 [T/C] NM_003245 TGM3 EXON Missense_F680L exm1519678 20 2321222 [A/G] NM_003245 TGM3 EXON Missense_E693K exm1519693 20 2375142 [A/G] NM_001254734,NM_198994 TGM6,TGM6 EXON Missense_A18T,Missense_A18T exm1519698 20 2375200 [T/C] NM_001254734,NM_198994 TGM6,TGM6 EXON Missense_S37L,Missense_S37L exm1519702 20 2375236 [T/A] NM_001254734,NM_198994 TGM6,TGM6 EXON Missense_D49V,Missense_D49V exm1519705 20 2375262 [A/G] NM_001254734,NM_198994 TGM6,TGM6 EXON Missense_M58V,Missense_M58V exm1519713 20 2375935 [A/G] NM_001254734,NM_198994 TGM6,TGM6 EXON Missense_M93V,Missense_M93V exm1519714 20 2375953 [A/G] NM_001254734,NM_198994 TGM6,TGM6 EXON Missense_V99I,Missense_V99I exm1519720 20 2376062 [T/A] NM_001254734,NM_198994 TGM6,TGM6 EXON Missense_L135H,Missense_L135H exm1519722 20 2376067 [A/C] NM_001254734,NM_198994 TGM6,TGM6 EXON Missense_N137H,Missense_N137H exm1519723 20 2376077 [A/G] NM_001254734,NM_198994 TGM6,TGM6 EXON Missense_C140Y,Missense_C140Y exm1519724 20 2376080 [A/C] NM_001254734,NM_198994 TGM6,TGM6 EXON Missense_A141E,Missense_A141E exm1519730 20 2377223 [T/C] NM_001254734,NM_198994 TGM6,TGM6 EXON Nonsense_R166X,Nonsense_R166X exm1519736 20 2378586 [A/T] NM_001254734,NM_198994 TGM6,TGM6 EXON Missense_I189N,Missense_I189N exm1519740 20 2378642 [A/G] NM_001254734,NM_198994 TGM6,TGM6 EXON Missense_V208M,Missense_V208M exm1519741 20 2378651 [T/C] NM_001254734,NM_198994 TGM6,TGM6 EXON Missense_R211C,Missense_R211C exm1519750 20 2380225 [T/C] NM_001254734,NM_198994 TGM6,TGM6 EXON Nonsense_R231X,Nonsense_R231X exm1519756 20 2380289 [A/G] NM_001254734,NM_198994 TGM6,TGM6 EXON Missense_R252H,Missense_R252H exm1519759 20 2380332 [A/C] NM_001254734,NM_198994 TGM6,TGM6 EXON Nonsense_Y266X,Nonsense_Y266X exm1519767 20 2381008 [A/G] NM_001254734,NM_198994 TGM6,TGM6 EXON Missense_D303N,Missense_D303N exm2275133 20 2381041 [A/G] NM_001254734,NM_198994 TGM6,TGM6 EXON Missense_V314M,Missense_V314M exm1519771 20 2381057 [A/G] NM_001254734,NM_198994 TGM6,TGM6 EXON Missense_R319Q,Missense_R319Q exm1519773 20 2381087 [T/C] NM_001254734,NM_198994 TGM6,TGM6 EXON Missense_M329T,Missense_M329T exm1519778 20 2384077 [T/C] NM_001254734,NM_198994 TGM6,TGM6 EXON Missense_R342W,Missense_R342W exm1519780 20 2384093 [T/C] NM_001254734,NM_198994 TGM6,TGM6 EXON Missense_P347L,Missense_P347L exm1519786 20 2384236 [A/G] NM_001254734,NM_198994 TGM6,TGM6 EXON Missense_R368Q,Missense_R368Q exm1519787 20 2384241 [A/G] NM_001254734,NM_198994 TGM6,TGM6 EXON Missense_G370S,Missense_G370S exm1519788 20 2384259 [A/G] NM_001254734,NM_198994 TGM6,TGM6 EXON Missense_A376T,Missense_A376T exm1519790 20 2384268 [A/G] NM_001254734,NM_198994 TGM6,TGM6 EXON Missense_E379K,Missense_E379K exm1960904 20 2384304 [A/G] NM_001254734,NM_198994 TGM6,TGM6 EXON Missense_V391M,Missense_V391M exm1519797 20 2384328 [T/G] NM_001254734,NM_198994 TGM6,TGM6 EXON Missense_Y399D,Missense_Y399D exm1519800 20 2384367 [T/C] NM_001254734,NM_198994 TGM6,TGM6 EXON Missense_R412C,Missense_R412C exm1519803 20 2384434 [A/G] NM_001254734,NM_198994 TGM6,TGM6 EXON Missense_R434H,Missense_R434H exm1519809 20 2397883 [T/C] NM_001254734,NM_198994 TGM6,TGM6 EXON Missense_R448W,Missense_R448W exm1519812 20 2397899 [T/G] NM_001254734,NM_198994 TGM6,TGM6 EXON Missense_V453G,Missense_V453G exm1519813 20 2397928 [A/G] NM_001254734,NM_198994 TGM6,TGM6 EXON Missense_G463S,Missense_G463S exm1519824 20 2398121 [T/A] NM_001254734,NM_198994 TGM6,TGM6 EXON Missense_V527E,Missense_V527E exm1960948 20 2398171 [T/G] NM_001254734,NM_198994 TGM6,TGM6 EXON Missense_A544S,Missense_A544S exm1519829 20 2398198 [A/G] NM_001254734,NM_198994 TGM6,TGM6 EXON Missense_V553M,Missense_V553M exm1519830 20 2398220 [A/G] NM_001254734,NM_198994 TGM6,TGM6 Silent,Silent exm1519831 20 2411098 [G/C] NM_001254734,NM_198994 TGM6,TGM6 EXON Missense_R562T,Missense_R562T exm1519832 20 2411103 [T/C] NM_001254734,NM_198994 TGM6,TGM6 EXON Missense_P564S,Missense_P564S exm1519834 20 2411118 [A/T] NM_001254734,NM_198994 TGM6,TGM6 EXON Missense_Y569N,Missense_Y569N exm1519910 20 2464066 [A/G] NM_024325 ZNF343 EXON Missense_T514M exm1519918 20 2464112 [T/C] NM_024325 ZNF343 EXON Missense_R499G exm1519922 20 2464183 [T/C] NM_024325 ZNF343 EXON Missense_S475N exm1519928 20 2464234 [A/G] NM_024325 ZNF343 EXON Missense_T458M exm1519931 20 2464256 [T/C] NM_024325 ZNF343 EXON Missense_T451A exm1960999 20 2464478 [T/C] NM_024325 ZNF343 EXON Missense_G377S exm1519956 20 2464828 [A/G] NM_024325 ZNF343 EXON Missense_P260L exm1519961 20 2464984 [T/C] NM_024325 ZNF343 EXON Missense_N208S exm1519962 20 2465005 [A/G] NM_024325 ZNF343 EXON Missense_S201L exm1961005 20 2465216 [A/T] NM_024325 ZNF343 EXON Missense_I131F exm1519969 20 2465222 [A/G] NM_024325 ZNF343 EXON Missense_L129F exm1961009 20 2473417 [T/C] NM_024325 ZNF343 EXON Missense_R78G exm1519979 20 2473472 [T/C] NM_024325 ZNF343 Silent exm1519985 20 2474429 [A/G] NM_024325 ZNF343 EXON Missense_A38V exm1519992 20 2474529 [A/G] NM_024325 ZNF343 EXON Missense_Y5H exm2254199 20 2488753 [A/G] NM_024325 ZNF343 Silent exm1961129 20 2517923 [A/G] NM_080751 TMC2 EXON Missense_G15R exm1520001 20 2517926 [T/G] NM_080751 TMC2 EXON Missense_V16L exm-rs6049839 20 2518565 [T/G] NM_080751 TMC2 Silent exm1520010 20 2539336 [T/C] NM_080751 TMC2 EXON Missense_S106F exm1520013 20 2539387 [A/G] NM_080751 TMC2 EXON Missense_R123K exm1520022 20 2542644 [T/A] NM_080751 TMC2 EXON Missense_L181Q exm1520028 20 2552884 [A/G] NM_080751 TMC2 EXON Missense_Q205R exm1520036 20 2559795 [T/C] NM_080751 TMC2 EXON Missense_W217R exm1520039 20 2559874 [A/G] NM_080751 TMC2 Silent exm1520040 20 2560595 [T/G] NM_080751 TMC2 Silent exm1961472 20 2560613 [C/G] NM_080751 TMC2 EXON Missense_V249L exm1520042 20 2560642 [G/C] NM_080751 TMC2 EXON Missense_W258C exm1961474 20 2560676 [A/G] NM_080751 TMC2 EXON Missense_I270V exm1961503 20 2572968 [A/G] NM_080751 TMC2 EXON Missense_M283V exm1520049 20 2572990 [T/G] NM_080751 TMC2 EXON Missense_R290I exm1520052 20 2575506 [A/C] NM_080751 TMC2 EXON Nonsense_Y323X exm1520059 20 2577828 [A/G] NM_080751 TMC2 EXON Missense_E370K exm1520071 20 2582839 [A/T] NM_080751 TMC2 EXON Missense_F435L exm1520075 20 2582894 [T/C] NM_080751 TMC2 EXON Nonsense_R454X exm1520077 20 2591122 [A/G] NM_080751 TMC2 EXON Missense_A491T exm1520085 20 2592841 [T/C] NM_080751 TMC2 EXON Missense_A533V exm1520090 20 2592966 [A/T] NM_080751 TMC2 EXON Missense_W575R exm2254207 20 2593863 [T/C] NM_080751 TMC2 EXON Synonymous_S589S exm1520100 20 2593871 [T/C] NM_080751 TMC2 EXON Missense_L592P exm1520114 20 2597716 [A/T] NM_080751 TMC2 Silent exm1520117 20 2597764 [T/C] NM_080751 TMC2 EXON Missense_R663C exm1961556 20 2597815 [A/G] NM_080751 TMC2 EXON Missense_V680I exm1520123 20 2597903 [T/C] NM_080751 TMC2 EXON Missense_P709L exm1520124 20 2597906 [T/A] NM_080751 TMC2 EXON Missense_V710E exm1520130 20 2604916 [A/G] NM_080751 TMC2 Silent exm2275257 20 2605044 [T/C] NM_080751 TMC2 Silent exm1520145 20 2618124 [A/G] NM_080751 TMC2 EXON Missense_R797H exm1520148 20 2618180 [C/G] NM_080751 TMC2 EXON Missense_E816Q exm1520155 20 2621900 [A/G] NM_080751 TMC2 EXON Missense_R875Q exm1520212 20 2635212 [A/G] NR_027700,NM_006392 NOP56,NOP56 EXON Silent,Missense_I121V exm1520217 20 2635445 [A/G] NR_027700,NM_006392 NOP56,NOP56 EXON Silent,Missense_A141T exm1520230 20 2636015 [A/G] NR_027700,NM_006392 NOP56,NOP56 EXON Silent,Missense_N205S exm1520231 20 2636027 [T/C] NR_027700,NM_006392 NOP56,NOP56 EXON Silent,Missense_T209I exm1520234 20 2636036 [A/G] NR_027700,NM_006392 NOP56,NOP56 EXON Silent,Missense_R212H exm1520236 20 2636108 [T/C] NR_027700,NM_006392 NOP56,NOP56 EXON Silent,Missense_M236T exm1520247 20 2636339 [T/C] NR_027700,NM_006392 NOP56,NOP56 EXON Silent,Missense_R286C exm2254208 20 2637427 [T/C] NR_027700,NM_006392 NOP56,NOP56 EXON Silent,Synonymous_P389P exm1520277 20 2637739 [A/G] NR_027700,NM_006392 NOP56,NOP56 EXON Silent,Missense_A432T exm1520282 20 2637809 [T/C] NR_027700,NM_006392 NOP56,NOP56 EXON Silent,Missense_A455V exm1520314 20 2639144 [A/G] NM_174855,NM_006899 IDH3B,IDH3B EXON Missense_Y366H,Silent exm1520316 20 2639162 [T/C] NM_174855,NM_006899 IDH3B,IDH3B EXON Missense_T360A,Silent exm1520347 20 2640779 [T/C] NM_174855,NM_006899,NM_001258384 IDH3B,IDH3B,IDH3B EXON Missense_N271S,Missense_N271S,Missense_N271S exm1520359 20 2641279 [A/C] NM_174855,NM_006899,NM_001258384 IDH3B,IDH3B,IDH3B Silent,Silent,Silent exm1520384 20 2644614 [T/C] NM_174855,NM_006899,NM_001258384 IDH3B,IDH3B,IDH3B EXON Missense_G25D,Missense_G25D,Missense_G25D exm-rs1810636 20 2654925 [A/C] exm1520401 20 2686666 [A/G] NM_001110514 EBF4 EXON Missense_R110Q exm2268321 20 2709659 [A/G] NM_001110514 EBF4 Silent exm1520447 20 2774984 [T/C] NM_019609,NM_001184699 CPXM1,CPXM1 EXON Missense_R686Q,Missense_R612Q exm1520449 20 2774994 [A/G] NM_019609,NM_001184699 CPXM1,CPXM1 EXON Missense_R683W,Missense_R609W exm1520452 20 2775037 [C/G] NM_019609,NM_001184699 CPXM1,CPXM1 EXON Missense_D668E,Missense_D594E exm1520458 20 2775185 [A/G] NM_019609,NM_001184699 CPXM1,CPXM1 EXON Missense_T654M,Missense_T580M exm1520459 20 2775188 [G/C] NM_019609,NM_001184699 CPXM1,CPXM1 EXON Missense_T653S,Missense_T579S exm1520475 20 2776248 [T/C] NM_019609,NM_001184699 CPXM1,CPXM1 EXON Missense_G573R,Silent exm2254209 20 2776294 [A/G] NM_019609,NM_001184699 CPXM1,CPXM1 EXON Synonymous_S557S,Silent exm1520479 20 2776294 [A/G] NM_019609,NM_001184699 CPXM1,CPXM1 EXON Synonymous_S557S,Silent exm1520482 20 2776334 [T/C] NM_019609,NM_001184699 CPXM1,CPXM1 EXON Missense_Q544R,Silent exm1520495 20 2776527 [A/G] NM_019609,NM_001184699 CPXM1,CPXM1 EXON Missense_R480W,Missense_R480W exm1520509 20 2776975 [T/C] NM_019609,NM_001184699 CPXM1,CPXM1 EXON Missense_R387Q,Missense_R387Q exm1520513 20 2777075 [A/G] NM_019609,NM_001184699 CPXM1,CPXM1 EXON Missense_R354C,Missense_R354C exm1520515 20 2777088 [T/C] NM_019609,NM_001184699 CPXM1,CPXM1 EXON Synonymous_G349G,Synonymous_G349G exm1520517 20 2777257 [A/G] NM_019609,NM_001184699 CPXM1,CPXM1 EXON Missense_R321C,Missense_R321C exm1520520 20 2777677 [T/C] NM_019609,NM_001184699 CPXM1,CPXM1 EXON Missense_H299R,Missense_H299R exm2254210 20 2777691 [A/G] NM_019609,NM_001184699 CPXM1,CPXM1 EXON Synonymous_P294P,Synonymous_P294P exm2254211 20 2777709 [T/C] NM_019609,NM_001184699 CPXM1,CPXM1 EXON Synonymous_A288A,Synonymous_A288A exm1520542 20 2778834 [A/G] NM_019609,NM_001184699 CPXM1,CPXM1 EXON Missense_S185L,Missense_S185L exm1520545 20 2778906 [T/C] NM_019609,NM_001184699 CPXM1,CPXM1 EXON Missense_G161E,Missense_G161E exm1520559 20 2779485 [A/G] NM_019609,NM_001184699 CPXM1,CPXM1 EXON Missense_M76T,Missense_M76T exm1520576 20 2796081 [T/G] NM_001256538,NM_080739 C20orf141,C20orf141 EXON Missense_L84R,Missense_L84R exm2234210 20 2796296 [T/C] NM_001256538,NM_080739 C20orf141,C20orf141 EXON Missense_S125P,Missense_S125P exm1961729 20 2796302 [T/C] NM_001256538,NM_080739 C20orf141,C20orf141 EXON Nonsense_Q127X,Nonsense_Q127X exm1520589 20 2796341 [C/G] NM_001256538,NM_080739 C20orf141,C20orf141 EXON Missense_G140R,Missense_G140R exm1520590 20 2796407 [T/C] NM_001256538,NM_080739 C20orf141,C20orf141 EXON Missense_H162Y,Missense_H162Y exm1520600 20 2797461 [C/G] NM_001167670 TMEM239 EXON Missense_H87Q exm1520611 20 2816191 [A/G] NM_001271168,NM_022760 PCED1A,PCED1A EXON Missense_R377W,Missense_R428W exm1520614 20 2816205 [T/C] NM_001271168,NM_022760 PCED1A,PCED1A EXON Missense_G372E,Missense_G423E exm1961735 20 2816211 [A/G] NM_001271168,NM_022760 PCED1A,PCED1A EXON Missense_M370T,Missense_M421T exm1520618 20 2816292 [A/G] NM_001271168,NM_022760 PCED1A,PCED1A EXON Missense_P343L,Missense_P394L exm1520628 20 2816822 [A/G] NM_001271168,NM_022760 PCED1A,PCED1A EXON Missense_P276L,Missense_P327L exm1520630 20 2816891 [A/C] NM_001271168,NM_022760 PCED1A,PCED1A EXON Missense_F253C,Missense_F304C exm1520631 20 2816903 [T/G] NM_001271168,NM_022760 PCED1A,PCED1A EXON Missense_Q249P,Missense_Q300P exm1520636 20 2818893 [A/G] NM_001271168,NM_022760 PCED1A,PCED1A EXON Missense_R225C,Missense_R276C exm1961742 20 2818931 [A/G] NM_001271168,NM_022760 PCED1A,PCED1A EXON Missense_T212I,Missense_T263I exm1520658 20 2820493 [A/C] NM_001271168,NM_022760 PCED1A,PCED1A EXON Missense_Q22H,Missense_Q22H exm1520675 20 2840900 [A/G] NM_022575,NM_080413 VPS16,VPS16 EXON Missense_V86M,Missense_V86M exm1520683 20 2841125 [T/C] NM_022575,NM_080413 VPS16,VPS16 EXON Missense_R134W,Missense_R134W exm1520689 20 2841195 [T/C] NM_022575,NM_080413 VPS16,VPS16 EXON Missense_A157V,Missense_A157V exm1520690 20 2841203 [A/G] NM_022575,NM_080413 VPS16,VPS16 EXON Missense_G160S,Missense_G160S exm1520695 20 2841495 [A/G] NM_022575,NM_080413 VPS16,VPS16 EXON Missense_A206T,Missense_A206T exm1520696 20 2841496 [T/C] NM_022575,NM_080413 VPS16,VPS16 EXON Missense_A206V,Missense_A206V exm1520698 20 2841504 [A/G] NM_022575,NM_080413 VPS16,VPS16 EXON Missense_A209T,Missense_A209T exm1520699 20 2841507 [A/G] NM_022575,NM_080413 VPS16,VPS16 EXON Missense_V210M,Missense_V210M exm1520708 20 2842275 [A/G] NM_022575,NM_080413 VPS16,VPS16 EXON Missense_R275H,Missense_R275H exm1961773 20 2842331 [A/G] NM_022575,NM_080413 VPS16,VPS16 EXON Missense_D294N,Missense_D294N exm1520711 20 2842337 [T/C] NM_022575,NM_080413 VPS16,VPS16 EXON Missense_P296S,Missense_P296S exm1520712 20 2842455 [A/G] NM_022575,NM_080413 VPS16,VPS16 EXON Missense_V302M,Silent exm1520719 20 2842701 [A/G] NM_022575,NM_080413 VPS16,VPS16 EXON Synonymous_A332A,Silent exm1520726 20 2843255 [T/C] NM_022575,NM_080413 VPS16,VPS16 EXON Missense_R368W,Silent exm1520743 20 2843727 [A/G] NM_022575,NM_080413 VPS16,VPS16 EXON Missense_I450V,Missense_I306V exm1520747 20 2843989 [A/G] NM_022575,NM_080413 VPS16,VPS16 EXON Missense_R474H,Missense_R330H exm1520750 20 2844017 [G/C] NM_022575,NM_080413 VPS16,VPS16 EXON Missense_R483S,Missense_R339S exm1520760 20 2844679 [A/G] NM_022575,NM_080413 VPS16,VPS16 EXON Missense_D521N,Missense_D377N exm1520776 20 2845214 [A/G] NM_022575,NM_080413,NM_002836 VPS16,VPS16,PTPRA EXON Missense_E614K,Missense_E470K,Silent exm1520791 20 2846052 [T/C] NM_022575,NM_080413,NM_002836 VPS16,VPS16,PTPRA EXON Missense_W728R,Missense_W584R,Silent exm1520800 20 2847113 [T/C] NM_022575,NM_080413,NM_002836 VPS16,VPS16,PTPRA EXON Missense_R805W,Missense_R661W,Silent exm2234213 20 2847377 [T/C] NM_022575,NM_080413,NM_002836 VPS16,VPS16,PTPRA EXON Silent,Silent,Silent exm1520822 20 2945759 [T/C] NM_002836,NM_080840,NM_080841 PTPRA,PTPRA,PTPRA EXON Missense_P109L,Missense_P109L,Missense_P109L exm1520832 20 2968736 [T/C] NM_002836,NM_080840,NM_080841 PTPRA,PTPRA,PTPRA EXON Missense_R196C,Missense_R187C,Missense_R187C exm1520845 20 2988066 [T/C] NM_002836,NM_080840,NM_080841 PTPRA,PTPRA,PTPRA EXON Synonymous_N302N,Synonymous_N293N,Synonymous_N293N exm1961932 20 3008482 [C/G] NM_002836,NM_080840,NM_080841 PTPRA,PTPRA,PTPRA EXON Missense_G639R,Missense_G630R,Missense_G630R exm2276691 20 3016327 [A/G] NM_002836,NM_080840,NM_080841 PTPRA,PTPRA,PTPRA EXON Missense_V673I,Missense_V664I,Missense_V664I exm1520891 20 3016333 [T/G] NM_002836,NM_080840,NM_080841 PTPRA,PTPRA,PTPRA EXON Missense_D675Y,Missense_D666Y,Missense_D666Y exm1520898 20 3016535 [A/G] NM_002836,NM_080840,NM_080841 PTPRA,PTPRA,PTPRA EXON Missense_V716M,Missense_V707M,Missense_V707M exm1520914 20 3025077 [A/G] NM_178332,NM_178331,NM_001501 GNRH2,GNRH2,GNRH2 EXON Missense_R6Q,Missense_R6Q,Missense_R6Q exm1520916 20 3025107 [T/C] NM_178332,NM_178331,NM_001501 GNRH2,GNRH2,GNRH2 EXON Missense_A16V,Missense_A16V,Missense_A16V exm1520925 20 3025330 [A/G] NM_178332,NM_178331,NM_001501 GNRH2,GNRH2,GNRH2 EXON Silent,Silent,Missense_A54T exm1520930 20 3025405 [A/G] NM_178332,NM_178331,NM_001501 GNRH2,GNRH2,GNRH2 EXON Missense_D71N,Missense_D72N,Missense_D79N exm1520950 20 3027280 [A/G] NM_030811 MRPS26 EXON Missense_E127G exm1520952 20 3028412 [A/C] NM_030811 MRPS26 EXON Missense_N172T exm1520962 20 3028489 [A/G] NM_030811 MRPS26 EXON Missense_V198I exm1520985 20 3065216 [G/C] NM_000490 AVP EXON Missense_D35E exm1521012 20 3096055 [A/G] NR_038395,NM_014948,NM_001267584,NM_199415 UBOX5-AS1,UBOX5,UBOX5,UBOX5 EXON Silent,Missense_T438I,Missense_T438I,Silent exm1521019 20 3102137 [C/G] NR_038395,NM_014948,NM_001267584,NM_199415 UBOX5-AS1,UBOX5,UBOX5,UBOX5 EXON Silent,Missense_C383S,Missense_C383S,Missense_C383S exm1521045 20 3102855 [T/C] NR_038395,NM_014948,NM_001267584,NM_199415 UBOX5-AS1,UBOX5,UBOX5,UBOX5 EXON Silent,Missense_A144T,Missense_A144T,Missense_A144T exm1521047 20 3102998 [A/G] NR_038395,NM_014948,NM_001267584,NM_199415 UBOX5-AS1,UBOX5,UBOX5,UBOX5 EXON Silent,Missense_T96M,Missense_T96M,Missense_T96M exm1521058 20 3127441 [A/G] NR_038395,NM_014948,NM_001267584,NM_199415,NM_021826 UBOX5-AS1,UBOX5,UBOX5,UBOX5,FASTKD5 EXON Silent,Silent,Silent,Silent,Missense_V759A exm1521062 20 3127493 [A/G] NR_038395,NM_014948,NM_001267584,NM_199415,NM_021826 UBOX5-AS1,UBOX5,UBOX5,UBOX5,FASTKD5 EXON Silent,Silent,Silent,Silent,Missense_P742S exm1521065 20 3127579 [T/C] NR_038395,NM_014948,NM_001267584,NM_199415,NM_021826 UBOX5-AS1,UBOX5,UBOX5,UBOX5,FASTKD5 EXON Silent,Silent,Silent,Silent,Missense_D713G exm1962455 20 3127624 [A/G] NR_038395,NM_014948,NM_001267584,NM_199415,NM_021826 UBOX5-AS1,UBOX5,UBOX5,UBOX5,FASTKD5 EXON Silent,Silent,Silent,Silent,Missense_A698V exm1521086 20 3127981 [T/C] NR_038395,NM_014948,NM_001267584,NM_199415,NM_021826 UBOX5-AS1,UBOX5,UBOX5,UBOX5,FASTKD5 EXON Silent,Silent,Silent,Silent,Missense_H579R exm1521092 20 3128230 [A/G] NR_038395,NM_014948,NM_001267584,NM_199415,NM_021826 UBOX5-AS1,UBOX5,UBOX5,UBOX5,FASTKD5 EXON Silent,Silent,Silent,Silent,Missense_P496L exm1521100 20 3128359 [A/C] NR_038395,NM_014948,NM_001267584,NM_199415,NM_021826 UBOX5-AS1,UBOX5,UBOX5,UBOX5,FASTKD5 EXON Silent,Silent,Silent,Silent,Missense_S453I exm1521106 20 3128507 [A/G] NR_038395,NM_014948,NM_001267584,NM_199415,NM_021826 UBOX5-AS1,UBOX5,UBOX5,UBOX5,FASTKD5 EXON Silent,Silent,Silent,Silent,Missense_R404C exm1521123 20 3128789 [T/C] NR_038395,NM_014948,NM_001267584,NM_199415,NM_021826 UBOX5-AS1,UBOX5,UBOX5,UBOX5,FASTKD5 EXON Silent,Silent,Silent,Silent,Missense_I310V exm1521128 20 3128854 [A/G] NR_038395,NM_014948,NM_001267584,NM_199415,NM_021826 UBOX5-AS1,UBOX5,UBOX5,UBOX5,FASTKD5 EXON Silent,Silent,Silent,Silent,Missense_I288T exm1521131 20 3128951 [A/G] NR_038395,NM_014948,NM_001267584,NM_199415,NM_021826 UBOX5-AS1,UBOX5,UBOX5,UBOX5,FASTKD5 EXON Silent,Silent,Silent,Silent,Missense_R256C exm1521140 20 3129184 [T/C] NR_038395,NM_014948,NM_001267584,NM_199415,NM_021826 UBOX5-AS1,UBOX5,UBOX5,UBOX5,FASTKD5 EXON Silent,Silent,Silent,Silent,Missense_H178R exm1521145 20 3129240 [G/C] NR_038395,NM_014948,NM_001267584,NM_199415,NM_021826 UBOX5-AS1,UBOX5,UBOX5,UBOX5,FASTKD5 EXON Silent,Silent,Silent,Silent,Missense_Q159H exm1521155 20 3129410 [T/C] NR_038395,NM_014948,NM_001267584,NM_199415,NM_021826 UBOX5-AS1,UBOX5,UBOX5,UBOX5,FASTKD5 EXON Silent,Silent,Silent,Silent,Missense_E103K exm1521156 20 3129416 [T/C] NR_038395,NM_014948,NM_001267584,NM_199415,NM_021826 UBOX5-AS1,UBOX5,UBOX5,UBOX5,FASTKD5 EXON Silent,Silent,Silent,Silent,Missense_V101I exm1521162 20 3129528 [G/C] NR_038395,NM_014948,NM_001267584,NM_199415,NM_021826 UBOX5-AS1,UBOX5,UBOX5,UBOX5,FASTKD5 EXON Silent,Silent,Silent,Silent,Missense_F63L exm1521170 20 3129713 [A/C] NR_038395,NM_014948,NM_001267584,NM_199415,NM_021826 UBOX5-AS1,UBOX5,UBOX5,UBOX5,FASTKD5 EXON Silent,Silent,Silent,Silent,Missense_A2S exm1521172 20 3145163 [A/C] NM_014731 PROSAPIP1 EXON Missense_H653Q exm1521173 20 3145191 [G/C] NM_014731 PROSAPIP1 EXON Missense_G644A exm1521174 20 3145195 [A/C] NM_014731 PROSAPIP1 EXON Missense_A643S exm1521178 20 3145302 [T/C] NM_014731 PROSAPIP1 EXON Missense_E607G exm1521184 20 3145477 [A/C] NM_014731 PROSAPIP1 EXON Missense_V549L exm1521201 20 3146481 [A/C] NM_014731 PROSAPIP1 EXON Missense_W329G exm1521219 20 3146733 [T/G] NM_014731 PROSAPIP1 EXON Missense_T245P exm2234255 20 3146915 [T/C] NM_014731 PROSAPIP1 EXON Missense_N184S exm2254222 20 3146965 [A/G] NM_014731 PROSAPIP1 EXON Synonymous_V167V exm1521237 20 3147003 [A/T] NM_014731 PROSAPIP1 EXON Missense_S155T exm1521239 20 3147368 [A/T] NM_014731 PROSAPIP1 EXON Missense_S148T exm1521240 20 3147403 [T/C] NM_014731 PROSAPIP1 EXON Missense_R136H exm1521245 20 3147472 [T/C] NM_014731 PROSAPIP1 EXON Missense_G113D exm1521246 20 3147482 [T/C] NM_014731 PROSAPIP1 EXON Missense_D110N exm1962572 20 3147746 [T/C] NM_014731 PROSAPIP1 EXON Missense_A22T exm2264694 20 3155408 [A/C] exm1521277 20 3171337 [T/C] NM_023935 DDRGK1 EXON Missense_A303T exm1521299 20 3175903 [T/C] NM_023935 DDRGK1 EXON Missense_V203I exm1521309 20 3180666 [A/C] NM_023935 DDRGK1 EXON Missense_R164L exm1521316 20 3180724 [A/G] NM_023935 DDRGK1 EXON Missense_R145W exm1521321 20 3180992 [T/C] NM_023935 DDRGK1 EXON Missense_R135H exm1521330 20 3183919 [G/C] NM_023935 DDRGK1 EXON Missense_R79G exm-rs11697186 20 3185123 [T/A] NM_023935 DDRGK1 Silent exm-rs6139030 20 3187733 [T/C] exm1521344 20 3193842 [A/C] NR_052000,NM_001267623,NM_033453,NR_052002,NM_181493,NR_052001 ITPA,ITPA,ITPA,ITPA,ITPA,ITPA EXON Silent,Silent,Missense_P32T,Silent,Missense_P15T,Silent exm1521346 20 3193848 [A/G] NR_052000,NM_001267623,NM_033453,NR_052002,NM_181493,NR_052001 ITPA,ITPA,ITPA,ITPA,ITPA,ITPA EXON Silent,Silent,Missense_T34A,Silent,Missense_T17A,Silent exm1521348 20 3193872 [T/C] NR_052000,NM_001267623,NM_033453,NR_052002,NM_181493,NR_052001 ITPA,ITPA,ITPA,ITPA,ITPA,ITPA EXON Silent,Silent,Synonymous_L42L,Silent,Synonymous_L25L,Silent exm1521356 20 3194024 [T/C] NR_052000,NM_001267623,NM_033453,NR_052002,NM_181493,NR_052001 ITPA,ITPA,ITPA,ITPA,ITPA,ITPA EXON Silent,Silent,Missense_R62C,Silent,Missense_R45C,Silent exm1521359 20 3194674 [A/G] NR_052000,NM_001267623,NM_033453,NR_052002,NM_181493,NR_052001 ITPA,ITPA,ITPA,ITPA,ITPA,ITPA EXON Silent,Missense_N37S,Missense_N78S,Silent,Missense_N61S,Silent exm1521361 20 3195941 [A/G] NR_052000,NM_001267623,NM_033453,NR_052002,NM_181493,NR_052001 ITPA,ITPA,ITPA,ITPA,ITPA,ITPA EXON Silent,Missense_E52G,Missense_E93G,Silent,Missense_E76G,Silent exm1521367 20 3199264 [A/G] NR_052000,NM_001267623,NM_033453,NR_052002,NM_181493,NR_052001 ITPA,ITPA,ITPA,ITPA,ITPA,ITPA EXON Silent,Missense_R92G,Missense_R133G,Silent,Missense_R116G,Silent exm1521371 20 3202527 [A/G] NR_052000,NM_001267623,NM_033453,NR_052002,NM_181493,NR_052001 ITPA,ITPA,ITPA,ITPA,ITPA,ITPA EXON Silent,Nonsense_W110X,Nonsense_W151X,Silent,Nonsense_W134X,Silent exm1962957 20 3204031 [A/G] NR_052000,NM_001267623,NM_033453,NR_052002,NM_181493,NR_052001 ITPA,ITPA,ITPA,ITPA,ITPA,ITPA EXON Silent,Missense_A129T,Missense_A170T,Silent,Missense_A153T,Silent exm1521393 20 3209011 [T/C] NM_001174089,NM_001174090,NM_032034 SLC4A11,SLC4A11,SLC4A11 EXON Missense_G818S,Missense_G861S,Missense_G834S exm1521412 20 3209353 [C/G] NM_001174089,NM_001174090,NM_032034 SLC4A11,SLC4A11,SLC4A11 EXON Synonymous_T731T,Synonymous_T774T,Synonymous_T747T exm1521416 20 3209490 [T/C] NM_001174089,NM_001174090,NM_032034 SLC4A11,SLC4A11,SLC4A11 EXON Missense_Y729C,Missense_Y772C,Missense_Y745C exm1521417 20 3209500 [T/C] NM_001174089,NM_001174090,NM_032034 SLC4A11,SLC4A11,SLC4A11 EXON Missense_G726R,Missense_G769R,Missense_G742R exm1521419 20 3209511 [A/C] NM_001174089,NM_001174090,NM_032034 SLC4A11,SLC4A11,SLC4A11 EXON Missense_R722L,Missense_R765L,Missense_R738L exm1521421 20 3209547 [A/G] NM_001174089,NM_001174090,NM_032034 SLC4A11,SLC4A11,SLC4A11 EXON Missense_P710L,Missense_P753L,Missense_P726L exm1521441 20 3210034 [T/C] NM_001174089,NM_001174090,NM_032034 SLC4A11,SLC4A11,SLC4A11 EXON Missense_A603T,Missense_A646T,Missense_A619T exm1521447 20 3210212 [T/C] NM_001174089,NM_001174090,NM_032034 SLC4A11,SLC4A11,SLC4A11 EXON Missense_G567D,Missense_G610D,Missense_G583D exm1521449 20 3210237 [T/C] NM_001174089,NM_001174090,NM_032034 SLC4A11,SLC4A11,SLC4A11 EXON Missense_V559M,Missense_V602M,Missense_V575M exm1521477 20 3211281 [A/G] NM_001174089,NM_001174090,NM_032034 SLC4A11,SLC4A11,SLC4A11 EXON Missense_I432T,Missense_I475T,Missense_I448T exm1521488 20 3211580 [A/G] NM_001174089,NM_001174090,NM_032034 SLC4A11,SLC4A11,SLC4A11 EXON Synonymous_I389I,Synonymous_I432I,Synonymous_I405I exm1521499 20 3211845 [T/C] NM_001174089,NM_001174090,NM_032034 SLC4A11,SLC4A11,SLC4A11 EXON Missense_R331Q,Missense_R374Q,Missense_R347Q exm1521500 20 3211846 [A/G] NM_001174089,NM_001174090,NM_032034 SLC4A11,SLC4A11,SLC4A11 EXON Missense_R331W,Missense_R374W,Missense_R347W exm1521505 20 3212008 [T/C] NM_001174089,NM_001174090,NM_032034 SLC4A11,SLC4A11,SLC4A11 EXON Missense_T306A,Missense_T349A,Missense_T322A exm2254228 20 3212027 [T/C] NM_001174089,NM_001174090,NM_032034 SLC4A11,SLC4A11,SLC4A11 EXON Synonymous_P299P,Synonymous_P342P,Synonymous_P315P exm1521510 20 3212031 [A/G] NM_001174089,NM_001174090,NM_032034 SLC4A11,SLC4A11,SLC4A11 EXON Missense_A298V,Missense_A341V,Missense_A314V exm1963011 20 3212037 [A/G] NM_001174089,NM_001174090,NM_032034 SLC4A11,SLC4A11,SLC4A11 EXON Missense_P296L,Missense_P339L,Missense_P312L exm1521511 20 3212041 [T/C] NM_001174089,NM_001174090,NM_032034 SLC4A11,SLC4A11,SLC4A11 EXON Missense_G295S,Missense_G338S,Missense_G311S exm1521531 20 3214737 [T/C] NM_001174089,NM_001174090,NM_032034 SLC4A11,SLC4A11,SLC4A11 EXON Missense_R172Q,Missense_R215Q,Missense_R188Q exm1521535 20 3214768 [T/C] NM_001174089,NM_001174090,NM_032034 SLC4A11,SLC4A11,SLC4A11 EXON Missense_M162V,Missense_M205V,Missense_M178V exm1521537 20 3214799 [G/C] NM_001174089,NM_001174090,NM_032034 SLC4A11,SLC4A11,SLC4A11 EXON Missense_E151D,Missense_E194D,Missense_E167D exm1521543 20 3214851 [T/C] NM_001174089,NM_001174090,NM_032034 SLC4A11,SLC4A11,SLC4A11 EXON Missense_N134S,Missense_N177S,Missense_N150S exm1521557 20 3215254 [A/G] NM_001174089,NM_001174090,NM_032034 SLC4A11,SLC4A11,SLC4A11 EXON Missense_A84V,Missense_A127V,Missense_A100V exm1521577 20 3218563 [T/C] NM_001174089,NM_001174090 SLC4A11,SLC4A11 EXON Silent,Missense_R50G exm1521580 20 3218634 [G/C] NM_001174089,NM_001174090 SLC4A11,SLC4A11 EXON Silent,Missense_P26R exm1521590 20 3234459 [A/G] NM_001009984 C20orf194 EXON Missense_R1112C exm1521596 20 3236701 [A/G] NM_001009984 C20orf194 EXON Missense_S1071F exm1521597 20 3236703 [C/G] NM_001009984 C20orf194 EXON Missense_C1070W exm1521600 20 3236729 [C/G] NM_001009984 C20orf194 EXON Missense_E1062Q exm1521602 20 3236756 [T/C] NM_001009984 C20orf194 EXON Missense_V1053I exm1521616 20 3240619 [T/C] NM_001009984 C20orf194 EXON Missense_V977I exm1521621 20 3251172 [A/G] NM_001009984 C20orf194 EXON Missense_T896M exm1521629 20 3268311 [T/C] NM_001009984 C20orf194 EXON Missense_R818H exm1521630 20 3268329 [T/C] NM_001009984 C20orf194 EXON Missense_R812H exm1521631 20 3268330 [A/G] NM_001009984 C20orf194 EXON Missense_R812C exm1521642 20 3274852 [T/C] NM_001009984 C20orf194 EXON Missense_R724Q exm1521657 20 3278698 [A/G] NM_001009984 C20orf194 EXON Missense_I636T exm1521659 20 3278720 [G/C] NM_001009984 C20orf194 EXON Missense_A629P exm1521666 20 3285140 [T/C] NM_001009984 C20orf194 EXON Missense_R577G exm1521667 20 3285145 [T/C] NM_001009984 C20orf194 EXON Missense_R575H exm1521668 20 3285146 [G/C] NM_001009984 C20orf194 EXON Missense_R575G exm1963276 20 3285169 [T/C] NM_001009984 C20orf194 EXON Missense_S567N exm1963307 20 3295764 [T/C] NM_001009984 C20orf194 EXON Missense_D532N exm1521686 20 3305540 [A/G] NM_001009984 C20orf194 EXON Missense_R422C exm1521690 20 3305615 [T/C] NM_001009984 C20orf194 EXON Missense_A397T exm1521692 20 3306879 [T/C] NM_001009984 C20orf194 EXON Missense_I385V exm1521706 20 3329231 [T/C] NM_001009984 C20orf194 EXON Missense_A244T exm2234327 20 3354787 [A/G] NM_001009984 C20orf194 EXON Missense_F174L exm1521723 20 3356886 [T/C] NM_001009984 C20orf194 EXON Missense_Y116C exm1521724 20 3356889 [T/C] NM_001009984 C20orf194 EXON Missense_R115H exm1521730 20 3362103 [T/G] NM_001009984 C20orf194 EXON Missense_N69T exm-rs965469 20 3381549 [T/C] NM_001009984 C20orf194 Silent exm2254246 20 3433158 [T/C] exm1521742 20 3452041 [T/C] NM_139322,NM_139321,NM_001207047 ATRN,ATRN,ATRN EXON Missense_A96V,Missense_A96V,Silent exm1521750 20 3515983 [T/A] NM_139322,NM_139321,NM_001207047 ATRN,ATRN,ATRN EXON Missense_Q165L,Missense_Q165L,Missense_Q49L exm1521761 20 3527996 [C/G] NM_139322,NM_139321,NM_001207047 ATRN,ATRN,ATRN EXON Missense_T268S,Missense_T268S,Missense_T152S exm1521767 20 3528135 [A/G] NM_139322,NM_139321,NM_001207047 ATRN,ATRN,ATRN EXON Synonymous_Q314Q,Synonymous_Q314Q,Synonymous_Q198Q exm1964471 20 3529952 [T/C] NM_139322,NM_139321,NM_001207047 ATRN,ATRN,ATRN EXON Missense_M360T,Missense_M360T,Missense_M244T exm1521783 20 3541382 [T/C] NM_139322,NM_139321,NM_001207047 ATRN,ATRN,ATRN EXON Missense_I426T,Missense_I426T,Missense_I310T exm1521787 20 3541458 [T/G] NM_139322,NM_139321,NM_001207047 ATRN,ATRN,ATRN EXON Missense_I451M,Missense_I451M,Missense_I335M exm1521788 20 3541462 [A/T] NM_139322,NM_139321,NM_001207047 ATRN,ATRN,ATRN EXON Missense_T453S,Missense_T453S,Missense_T337S exm1521796 20 3542979 [A/G] NM_139322,NM_139321,NM_001207047 ATRN,ATRN,ATRN EXON Missense_G502S,Missense_G502S,Missense_G386S exm1521797 20 3542997 [A/G] NM_139322,NM_139321,NM_001207047 ATRN,ATRN,ATRN EXON Missense_D508N,Missense_D508N,Missense_D392N exm1521799 20 3543079 [A/T] NM_139322,NM_139321,NM_001207047 ATRN,ATRN,ATRN EXON Missense_Y535F,Missense_Y535F,Missense_Y419F exm1521807 20 3546013 [T/C] NM_139322,NM_139321,NM_001207047 ATRN,ATRN,ATRN EXON Missense_V602A,Missense_V602A,Missense_V486A exm1521815 20 3553472 [A/G] NM_139322,NM_139321,NM_001207047 ATRN,ATRN,ATRN EXON Missense_A656T,Missense_A656T,Missense_A540T exm1521824 20 3557525 [A/G] NM_139322,NM_139321,NM_001207047 ATRN,ATRN,ATRN EXON Missense_E745G,Missense_E745G,Missense_E629G exm1521828 20 3562780 [A/C] NM_139322,NM_139321,NM_001207047 ATRN,ATRN,ATRN Silent,Silent,Silent exm1521832 20 3562866 [A/G] NM_139322,NM_139321,NM_001207047 ATRN,ATRN,ATRN EXON Missense_N877D,Missense_N877D,Missense_N761D exm1521846 20 3565356 [T/G] NM_139322,NM_139321,NM_001207047 ATRN,ATRN,ATRN EXON Missense_C1005G,Missense_C1005G,Missense_C889G exm1521857 20 3571908 [A/G] NM_139322,NM_139321,NM_001207047 ATRN,ATRN,ATRN EXON Missense_I1093V,Missense_I1093V,Missense_I977V exm1521859 20 3571953 [T/C] NM_139322,NM_139321,NM_001207047 ATRN,ATRN,ATRN EXON Missense_P1108S,Missense_P1108S,Missense_P992S exm1521864 20 3575197 [A/G] NM_139322,NM_139321,NM_001207047 ATRN,ATRN,ATRN EXON Missense_V1132I,Missense_V1132I,Missense_V1016I exm1521868 20 3577062 [A/G] NM_139322,NM_139321,NM_001207047 ATRN,ATRN,ATRN EXON Missense_R1152K,Missense_R1152K,Missense_R1036K exm1521872 20 3578637 [A/C] NM_139322,NM_139321,NM_001207047 ATRN,ATRN,ATRN EXON Missense_T1185N,Missense_T1185N,Missense_T1069N exm1521877 20 3584784 [A/G] NM_139322,NM_139321,NM_001207047 ATRN,ATRN,ATRN EXON Missense_V1226I,Missense_V1226I,Missense_V1110I exm1964822 20 3624844 [A/G] NM_139321 ATRN EXON Missense_K1365R exm1521985 20 3640865 [T/C] NM_145762,NM_022139 GFRA4,GFRA4 EXON Nonsense_W253X,Nonsense_W223X exm1521986 20 3640867 [A/G] NM_145762,NM_022139 GFRA4,GFRA4 EXON Missense_W253R,Missense_W223R exm1522008 20 3641868 [A/T] NM_145762,NM_022139 GFRA4,GFRA4 EXON Missense_C39S,Missense_C39S exm1522013 20 3644024 [A/G] NM_145762,NM_022139 GFRA4,GFRA4 EXON Missense_A8V,Missense_A8V exm1522014 20 3644040 [A/G] NM_145762,NM_022139 GFRA4,GFRA4 EXON Missense_R3C,Missense_R3C exm1522018 20 3649619 [T/G] NM_025220,NM_153202 ADAM33,ADAM33 EXON Nonsense_C811X,Nonsense_C785X exm1522022 20 3649949 [T/G] NM_025220,NM_153202 ADAM33,ADAM33 EXON Missense_Q801K,Missense_Q775K exm1522043 20 3651765 [T/C] NM_025220,NM_153202 ADAM33,ADAM33 EXON Missense_V710I,Missense_V684I exm1522047 20 3651931 [T/G] NM_025220,NM_153202 ADAM33,ADAM33 EXON Missense_K682T,Missense_K656T exm1522053 20 3652094 [T/C] NM_025220,NM_153202 ADAM33,ADAM33 EXON Missense_R652H,Silent exm1522060 20 3652292 [G/C] NM_025220,NM_153202 ADAM33,ADAM33 EXON Missense_S614T,Missense_S614T exm2234389 20 3652298 [T/A] NM_025220,NM_153202 ADAM33,ADAM33 EXON Missense_L612H,Missense_L612H exm1522064 20 3652365 [T/C] NM_025220,NM_153202 ADAM33,ADAM33 EXON Missense_M590V,Missense_M590V exm2275353 20 3652398 [A/G] NM_025220,NM_153202 ADAM33,ADAM33 EXON Nonsense_Q579X,Nonsense_Q579X exm1522072 20 3652582 [T/C] NM_025220,NM_153202 ADAM33,ADAM33 EXON Missense_D550N,Missense_D550N exm1522074 20 3652615 [T/C] NM_025220,NM_153202 ADAM33,ADAM33 EXON Missense_E539K,Missense_E539K exm1522079 20 3652835 [A/G] NM_025220,NM_153202 ADAM33,ADAM33 EXON Missense_W515R,Missense_W515R exm1522088 20 3653195 [T/C] NM_025220,NM_153202 ADAM33,ADAM33 EXON Missense_V464M,Missense_V464M exm1522123 20 3655219 [T/C] NM_025220,NM_153202 ADAM33,ADAM33 EXON Missense_T178A,Missense_T178A exm1522128 20 3655284 [T/C] NM_025220,NM_153202 ADAM33,ADAM33 EXON Missense_R156Q,Missense_R156Q exm1522129 20 3655299 [T/C] NM_025220,NM_153202 ADAM33,ADAM33 EXON Missense_R151H,Missense_R151H exm1522137 20 3655681 [T/C] NM_025220,NM_153202 ADAM33,ADAM33 EXON Missense_N109S,Missense_N109S exm1522164 20 3670249 [T/C] NM_023068 SIGLEC1 EXON Nonsense_W1665X exm1522167 20 3670341 [A/G] NM_023068 SIGLEC1 EXON Missense_R1635C exm2234395 20 3670897 [A/G] NM_023068 SIGLEC1 EXON Missense_P1536S exm1522183 20 3672046 [T/C] NM_023068 SIGLEC1 EXON Missense_C1511Y exm1522184 20 3672050 [A/G] NM_023068 SIGLEC1 EXON Missense_H1510Y exm1522185 20 3672056 [T/G] NM_023068 SIGLEC1 EXON Missense_M1508L exm1522189 20 3672119 [A/G] NM_023068 SIGLEC1 EXON Missense_R1487W exm1522194 20 3672610 [T/C] NM_023068 SIGLEC1 EXON Missense_V1424I exm1522201 20 3672717 [T/G] NM_023068 SIGLEC1 EXON Missense_T1388K exm1522203 20 3672739 [T/G] NM_023068 SIGLEC1 EXON Missense_H1381N exm1522204 20 3672741 [A/G] NM_023068 SIGLEC1 EXON Missense_S1380F exm2234396 20 3672828 [A/T] NM_023068 SIGLEC1 EXON Missense_L1351Q exm1522222 20 3673296 [A/G] NM_023068 SIGLEC1 EXON Missense_L1301P exm1522226 20 3673309 [T/C] NM_023068 SIGLEC1 EXON Missense_N1297D exm1522234 20 3673398 [A/G] NM_023068 SIGLEC1 EXON Missense_P1267L exm1522237 20 3673518 [A/G] NM_023068 SIGLEC1 EXON Missense_R1257W exm1522238 20 3673535 [T/C] NM_023068 SIGLEC1 EXON Missense_N1251S exm1522239 20 3673557 [A/G] NM_023068 SIGLEC1 EXON Missense_R1244C exm1522243 20 3673677 [T/C] NM_023068 SIGLEC1 EXON Missense_A1204T exm1522244 20 3673721 [A/G] NM_023068 SIGLEC1 EXON Missense_A1189V exm1522249 20 3673775 [A/G] NM_023068 SIGLEC1 EXON Missense_A1171V exm1522261 20 3674154 [T/C] NM_023068 SIGLEC1 EXON Missense_G1150S exm1522271 20 3674261 [A/G] NM_023068 SIGLEC1 EXON Missense_P1114L exm1522272 20 3674309 [T/C] NM_023068 SIGLEC1 EXON Missense_R1098Q exm1522282 20 3674973 [A/G] NM_023068 SIGLEC1 EXON Missense_R1051C exm1965021 20 3675060 [A/G] NM_023068 SIGLEC1 EXON Missense_R1022C exm1522296 20 3675333 [A/G] NM_023068 SIGLEC1 EXON Missense_A974V exm1522298 20 3675417 [T/C] NM_023068 SIGLEC1 EXON Missense_R946H exm1522304 20 3675498 [T/G] NM_023068 SIGLEC1 EXON Missense_H919P exm1522306 20 3675522 [A/G] NM_023068 SIGLEC1 EXON Missense_A911V exm1522314 20 3677326 [A/G] NM_023068 SIGLEC1 EXON Nonsense_R864X exm1522323 20 3677494 [T/C] NM_023068 SIGLEC1 EXON Missense_G808S exm1522325 20 3677512 [A/G] NM_023068 SIGLEC1 EXON Missense_S802P exm2234399 20 3677523 [T/C] NM_023068 SIGLEC1 EXON Missense_R798H exm1522327 20 3677524 [A/G] NM_023068 SIGLEC1 EXON Missense_R798C exm1522342 20 3677876 [A/G] NM_023068 SIGLEC1 EXON Nonsense_R746X exm1522350 20 3678462 [T/G] NM_023068 SIGLEC1 EXON Missense_A702D exm1522359 20 3678669 [T/C] NM_023068 SIGLEC1 EXON Missense_R633K exm1522368 20 3678749 [A/C] NM_023068 SIGLEC1 EXON Missense_R606S exm1522392 20 3682082 [A/G] NM_023068 SIGLEC1 EXON Nonsense_R479X exm1522393 20 3682094 [A/G] NM_023068 SIGLEC1 EXON Missense_R475C exm1522394 20 3682126 [T/C] NM_023068 SIGLEC1 EXON Missense_R464H exm1965106 20 3682261 [A/G] NM_023068 SIGLEC1 EXON Missense_A419V exm1522420 20 3683845 [A/G] NM_023068 SIGLEC1 EXON Synonymous_N409N exm1522421 20 3683856 [T/C] NM_023068 SIGLEC1 EXON Missense_V406M exm1522424 20 3683889 [T/C] NM_023068 SIGLEC1 EXON Missense_V395I exm1522426 20 3683922 [T/C] NM_023068 SIGLEC1 EXON Missense_D384N exm1522430 20 3684023 [T/C] NM_023068 SIGLEC1 EXON Missense_N350S exm1522432 20 3684496 [A/G] NM_023068 SIGLEC1 EXON Missense_P317S exm1522434 20 3684517 [T/C] NM_023068 SIGLEC1 EXON Missense_G310S exm1522438 20 3684601 [A/G] NM_023068 SIGLEC1 EXON Missense_R282C exm1522439 20 3684657 [T/C] NM_023068 SIGLEC1 EXON Missense_Q263R exm1522440 20 3684702 [A/G] NM_023068 SIGLEC1 EXON Missense_S248L exm1522443 20 3684729 [T/C] NM_023068 SIGLEC1 EXON Missense_K239R exm1522446 20 3686436 [T/C] NM_023068 SIGLEC1 EXON Missense_V221M exm1965153 20 3686514 [T/C] NM_023068 SIGLEC1 EXON Missense_G195S exm1522454 20 3686552 [T/C] NM_023068 SIGLEC1 EXON Missense_R182H exm1522456 20 3686604 [T/C] NM_023068 SIGLEC1 EXON Missense_V165I exm1522460 20 3686676 [C/G] NM_023068 SIGLEC1 EXON Missense_V141L exm1965165 20 3686995 [T/C] NM_023068 SIGLEC1 EXON Synonymous_T136T exm1522470 20 3687141 [A/C] NM_023068 SIGLEC1 EXON Nonsense_E88X exm1522478 20 3687197 [A/C] NM_023068 SIGLEC1 EXON Missense_V69G exm1522480 20 3687212 [A/G] NM_023068 SIGLEC1 EXON Missense_S64L exm1522483 20 3687227 [A/C] NM_023068 SIGLEC1 EXON Missense_W59L exm1522490 20 3687330 [T/C] NM_023068 SIGLEC1 EXON Missense_S25G exm1522493 20 3687772 [T/C] NM_023068 SIGLEC1 EXON Missense_G2S exm1522505 20 3721510 [T/G] NM_001197327,NM_052970 HSPA12B,HSPA12B EXON Missense_R31M,Missense_R31M exm1522513 20 3725553 [T/C] NM_001197327,NM_052970 HSPA12B,HSPA12B EXON Missense_W91R,Missense_W91R exm1522521 20 3726565 [T/C] NM_001197327,NM_052970 HSPA12B,HSPA12B EXON Synonymous_L187L,Synonymous_L188L exm1522524 20 3726664 [A/G] NM_001197327,NM_052970 HSPA12B,HSPA12B EXON Missense_E220K,Missense_E221K exm1522536 20 3728939 [T/C] NM_001197327,NM_052970 HSPA12B,HSPA12B EXON Missense_R250C,Missense_R251C exm1522538 20 3728978 [T/C] NM_001197327,NM_052970 HSPA12B,HSPA12B EXON Missense_R263W,Missense_R264W exm1522541 20 3729011 [T/C] NM_001197327,NM_052970 HSPA12B,HSPA12B EXON Missense_R274C,Missense_R275C exm1522546 20 3729923 [A/G] NM_001197327,NM_052970 HSPA12B,HSPA12B EXON Missense_V298M,Missense_V299M exm1522549 20 3729964 [A/G] NM_001197327,NM_052970 HSPA12B,HSPA12B EXON Synonymous_A311A,Synonymous_A312A exm1522550 20 3730492 [A/C] NM_001197327,NM_052970 HSPA12B,HSPA12B EXON Missense_K344Q,Missense_K345Q exm1522558 20 3730769 [T/G] NM_001197327,NM_052970 HSPA12B,HSPA12B EXON Missense_G398V,Missense_G399V exm1522565 20 3731465 [A/C] NM_001197327,NM_052970 HSPA12B,HSPA12B EXON Missense_K438T,Missense_K439T exm1522567 20 3731479 [A/G] NM_001197327,NM_052970 HSPA12B,HSPA12B EXON Missense_G443R,Missense_G444R exm1522609 20 3734716 [T/C] NM_001258429,NM_001258430,NR_047675,NM_001039140 C20orf27,C20orf27,C20orf27,C20orf27 EXON Missense_G172S,Missense_G172S,Silent,Missense_G197S exm1522623 20 3735064 [A/G] NM_001258429,NM_001258430,NR_047675,NM_001039140 C20orf27,C20orf27,C20orf27,C20orf27 EXON Missense_T135M,Missense_T135M,Silent,Missense_T160M exm1522632 20 3736160 [A/G] NM_001258429,NM_001258430,NR_047675,NM_001039140 C20orf27,C20orf27,C20orf27,C20orf27 EXON Missense_P86L,Missense_P86L,Silent,Missense_P111L exm1522634 20 3736173 [T/C] NM_001258429,NM_001258430,NR_047675,NM_001039140 C20orf27,C20orf27,C20orf27,C20orf27 EXON Missense_E82K,Missense_E82K,Silent,Missense_E107K exm1522650 20 3740677 [A/G] NM_001258429,NM_001258430,NR_047675,NM_001039140 C20orf27,C20orf27,C20orf27,C20orf27 EXON Silent,Silent,Silent,Missense_P24L exm1522671 20 3759439 [T/C] NM_015417 SPEF1 EXON Missense_A145T exm1522674 20 3759905 [A/G] NM_015417 SPEF1 EXON Missense_P106S exm1522677 20 3759947 [T/C] NM_015417 SPEF1 EXON Missense_I92V exm1522680 20 3760000 [T/C] NM_015417 SPEF1 Silent exm1965532 20 3760323 [T/C] NM_015417 SPEF1 EXON Missense_G70D exm1522700 20 3765623 [A/G] NM_001810 CENPB EXON Missense_F503S exm1522703 20 3765671 [A/G] NM_001810 CENPB EXON Missense_F487S exm1522733 20 3765986 [A/G] NM_001810 CENPB EXON Missense_A382V exm1522735 20 3766022 [G/C] NM_001810 CENPB EXON Missense_A370G exm1522751 20 3766554 [T/C] NM_001810 CENPB EXON Missense_S193G exm1522770 20 3766941 [T/G] NM_001810 CENPB EXON Missense_T64P exm-rs3761218 20 3776175 [T/C] exm1522785 20 3777365 [A/G] NM_021873,NM_021872,NM_004358 CDC25B,CDC25B,CDC25B EXON Missense_A63T,Missense_A63T,Missense_A63T exm1522802 20 3780935 [A/G] NM_021873,NM_021872,NM_004358 CDC25B,CDC25B,CDC25B EXON Synonymous_T127T,Synonymous_T127T,Synonymous_T113T exm1522818 20 3781454 [A/G] NM_021873,NM_021872,NM_004358 CDC25B,CDC25B,CDC25B EXON Missense_R175Q,Silent,Missense_R161Q exm1522819 20 3781459 [A/G] NM_021873,NM_021872,NM_004358 CDC25B,CDC25B,CDC25B EXON Missense_K177E,Silent,Missense_K163E exm1522822 20 3781622 [G/C] NM_021873,NM_021872,NM_004358 CDC25B,CDC25B,CDC25B EXON Missense_G196A,Missense_G155A,Missense_G182A exm1522827 20 3781917 [A/G] NM_021873,NM_021872,NM_004358 CDC25B,CDC25B,CDC25B EXON Missense_R241Q,Missense_R200Q,Missense_R227Q exm1522833 20 3782384 [C/G] NM_021873,NM_021872,NM_004358 CDC25B,CDC25B,CDC25B EXON Missense_P286A,Missense_P245A,Missense_P272A exm1965629 20 3782594 [C/G] NM_021873,NM_021872,NM_004358 CDC25B,CDC25B,CDC25B EXON Missense_C315W,Missense_C274W,Missense_C301W exm2254265 20 3784110 [T/C] NM_021873,NM_021872,NM_004358 CDC25B,CDC25B,CDC25B EXON Synonymous_I472I,Synonymous_I431I,Synonymous_I458I exm1522866 20 3784112 [T/C] NM_021873,NM_021872,NM_004358 CDC25B,CDC25B,CDC25B EXON Missense_A473V,Missense_A432V,Missense_A459V exm1522875 20 3785507 [A/G] NM_021873,NM_021872,NM_004358 CDC25B,CDC25B,CDC25B EXON Missense_E548K,Missense_E507K,Missense_E534K exm1965646 20 3785604 [A/G] NM_021873,NM_021872,NM_004358 CDC25B,CDC25B,CDC25B EXON Missense_Q580R,Missense_Q539R,Missense_Q566R exm2254266 20 3802803 [A/G] NM_001204447,NM_001204446,NM_018347 AP5S1,AP5S1,AP5S1 EXON Synonymous_P13P,Synonymous_P13P,Synonymous_P13P exm1522891 20 3802913 [A/G] NM_001204447,NM_001204446,NM_018347 AP5S1,AP5S1,AP5S1 EXON Missense_R50Q,Missense_R50Q,Missense_R50Q exm1522892 20 3802923 [T/G] NM_001204447,NM_001204446,NM_018347 AP5S1,AP5S1,AP5S1 EXON Missense_Q53H,Missense_Q53H,Missense_Q53H exm2272916 20 3803446 [T/C] NM_001204447,NM_001204446,NM_018347 AP5S1,AP5S1,AP5S1 Silent,Silent,Silent exm1522897 20 3804573 [T/G] NM_001204447,NM_001204446,NM_018347 AP5S1,AP5S1,AP5S1 EXON Missense_D78Y,Missense_D78Y,Missense_D78Y exm1522916 20 3804760 [A/G] NM_001204447,NM_001204446,NM_018347 AP5S1,AP5S1,AP5S1 EXON Missense_R140Q,Missense_R140Q,Missense_R140Q exm1522920 20 3804856 [A/G] NM_001204447,NM_001204446,NM_018347 AP5S1,AP5S1,AP5S1 EXON Missense_R172H,Missense_R172H,Missense_R172H exm1522921 20 3804858 [T/G] NM_001204447,NM_001204446,NM_018347 AP5S1,AP5S1,AP5S1 EXON Missense_F173V,Missense_F173V,Missense_F173V exm-rs4815617 20 3827309 [T/C] exm1522930 20 3838355 [A/G] NR_037921,NM_020746,NM_001206491 MAVS,MAVS,MAVS EXON Silent,Missense_R64Q,Silent exm1522931 20 3838357 [T/C] NR_037921,NM_020746,NM_001206491 MAVS,MAVS,MAVS EXON Silent,Missense_R65W,Silent exm1522936 20 3838400 [T/G] NR_037921,NM_020746,NM_001206491 MAVS,MAVS,MAVS EXON Silent,Missense_C79F,Silent exm1522941 20 3838441 [G/C] NR_037921,NM_020746,NM_001206491 MAVS,MAVS,MAVS EXON Silent,Missense_Q93E,Silent exm1522944 20 3838457 [A/G] NR_037921,NM_020746,NM_001206491 MAVS,MAVS,MAVS Silent,Silent,Silent exm1522956 20 3842057 [T/C] NR_037921,NM_020746,NM_001206491 MAVS,MAVS,MAVS EXON Silent,Missense_A124V,Silent exm1522966 20 3842923 [T/C] NR_037921,NM_020746,NM_001206491 MAVS,MAVS,MAVS EXON Silent,Missense_T163M,Missense_T22M exm1522974 20 3843015 [A/G] NR_037921,NM_020746,NM_001206491 MAVS,MAVS,MAVS EXON Silent,Missense_G194R,Missense_G53R exm1522975 20 3843027 [A/C] NR_037921,NM_020746,NM_001206491 MAVS,MAVS,MAVS EXON Silent,Missense_Q198K,Missense_Q57K exm1522983 20 3844929 [T/C] NR_037921,NM_020746,NM_001206491 MAVS,MAVS,MAVS EXON Silent,Missense_R218C,Missense_R77C exm1522984 20 3844930 [A/G] NR_037921,NM_020746,NM_001206491 MAVS,MAVS,MAVS EXON Silent,Missense_R218H,Missense_R77H exm1522986 20 3844972 [A/G] NR_037921,NM_020746,NM_001206491 MAVS,MAVS,MAVS EXON Silent,Missense_R232H,Missense_R91H exm1522987 20 3844992 [T/C] NR_037921,NM_020746,NM_001206491 MAVS,MAVS,MAVS EXON Silent,Missense_R239C,Missense_R98C exm1965670 20 3845179 [T/C] NR_037921,NM_020746,NM_001206491 MAVS,MAVS,MAVS EXON Silent,Missense_T301I,Missense_T160I exm1523005 20 3845351 [C/G] NR_037921,NM_020746,NM_001206491 MAVS,MAVS,MAVS EXON Silent,Missense_M358I,Missense_M217I exm1523015 20 3846357 [A/G] NR_037921,NM_020746,NM_001206491 MAVS,MAVS,MAVS EXON Silent,Missense_G396S,Missense_G255S exm1523019 20 3846397 [T/C] NR_037921,NM_020746,NM_001206491 MAVS,MAVS,MAVS EXON Silent,Missense_S409F,Missense_S268F exm1523020 20 3846408 [A/G] NR_037921,NM_020746,NM_001206491 MAVS,MAVS,MAVS EXON Silent,Missense_G413S,Missense_G272S exm2254268 20 3846479 [T/C] NR_037921,NM_020746,NM_001206491 MAVS,MAVS,MAVS EXON Silent,Synonymous_F436F,Synonymous_F295F exm2276693 20 3846578 [A/C] NR_037921,NM_020746,NM_001206491 MAVS,MAVS,MAVS EXON Silent,Missense_H469Q,Missense_H328Q exm1965681 20 3846666 [T/C] NR_037921,NM_020746,NM_001206491 MAVS,MAVS,MAVS EXON Silent,Missense_R499W,Missense_R358W exm1523060 20 3869878 [T/G] NM_024960,NM_153638 PANK2,PANK2 EXON Silent,Missense_R44L exm1523061 20 3869884 [T/A] NM_024960,NM_153638 PANK2,PANK2 EXON Silent,Missense_D46V exm1965687 20 3870023 [A/G] NM_024960,NM_153638 PANK2,PANK2 EXON Silent,Synonymous_R92R exm1523072 20 3870079 [A/T] NM_024960,NM_153638 PANK2,PANK2 EXON Silent,Missense_L111Q exm1523088 20 3888644 [A/G] NM_024960,NM_153638,NM_153640 PANK2,PANK2,PANK2 EXON Silent,Missense_T234A,Silent exm1523108 20 3897573 [T/G] NM_024960,NM_153638,NM_153640 PANK2,PANK2,PANK2 Silent,Silent,Silent exm1523112 20 3897654 [T/C] NM_024960,NM_153638,NM_153640 PANK2,PANK2,PANK2 EXON Missense_T207I,Missense_T498I,Missense_T207I exm1523118 20 3899342 [A/G] NM_024960,NM_153638,NM_153640 PANK2,PANK2,PANK2 EXON Missense_G230R,Missense_G521R,Missense_G230R exm-rs1741344 20 4101800 [T/C] exm1523159 20 4155880 [A/G] NM_001270691,NM_175841,NM_175842,NM_175839,NM_175840 SMOX,SMOX,SMOX,SMOX,SMOX EXON Missense_I60V,Missense_I60V,Missense_I60V,Missense_I60V,Missense_I60V exm1523162 20 4158003 [T/G] NM_001270691,NM_175841,NM_175842,NM_175839,NM_175840 SMOX,SMOX,SMOX,SMOX,SMOX EXON Missense_A72S,Missense_A72S,Missense_A72S,Missense_A72S,Missense_A72S exm1523172 20 4158174 [T/C] NM_001270691,NM_175841,NM_175842,NM_175839,NM_175840 SMOX,SMOX,SMOX,SMOX,SMOX EXON Missense_R129C,Missense_R129C,Missense_R129C,Missense_R129C,Missense_R129C exm2254279 20 4162837 [T/G] NM_001270691,NM_175841,NM_175842,NM_175839,NM_175840 SMOX,SMOX,SMOX,SMOX,SMOX EXON Synonymous_S237S,Silent,Synonymous_S237S,Synonymous_S237S,Synonymous_S237S exm1523193 20 4162910 [T/C] NM_001270691,NM_175841,NM_175842,NM_175839,NM_175840 SMOX,SMOX,SMOX,SMOX,SMOX EXON Missense_R262C,Silent,Missense_R262C,Missense_R262C,Missense_R262C exm1523205 20 4163091 [T/C] NM_001270691,NM_175841,NM_175842,NM_175839,NM_175840 SMOX,SMOX,SMOX,SMOX,SMOX EXON Missense_L322P,Silent,Silent,Missense_L322P,Silent exm1523226 20 4164182 [T/G] NM_001270691,NM_175841,NM_175842,NM_175839,NM_175840 SMOX,SMOX,SMOX,SMOX,SMOX EXON Missense_A471S,Silent,Missense_A418S,Missense_A471S,Missense_A418S exm1523227 20 4164206 [T/C] NM_001270691,NM_175841,NM_175842,NM_175839,NM_175840 SMOX,SMOX,SMOX,SMOX,SMOX EXON Missense_R479C,Silent,Missense_R426C,Missense_R479C,Missense_R426C exm-rs16989303 20 4169079 [A/G] exm1523261 20 4202315 [C/G] NM_000678 ADRA1D EXON Missense_G525A exm1523270 20 4202636 [C/G] NM_000678 ADRA1D EXON Missense_R418P exm1523271 20 4202649 [A/G] NM_000678 ADRA1D EXON Missense_L414F exm1523289 20 4228763 [A/G] NM_000678 ADRA1D EXON Missense_A281V exm1523292 20 4228850 [A/G] NM_000678 ADRA1D EXON Missense_A252V exm1523297 20 4229003 [A/G] NM_000678 ADRA1D EXON Missense_S201L exm1523305 20 4229235 [T/G] NM_000678 ADRA1D EXON Missense_N124H exm-rs6076665 20 4334541 [T/G] exm2272872 20 4391844 [T/C] exm-rs6052699 20 4611877 [A/G] exm2254307 20 4680094 [T/C] NM_001080121,NM_001080122,NM_183079,NM_000311,NM_001271561,NM_001080123 PRNP,PRNP,PRNP,PRNP,PRNP,PRNP EXON Synonymous_P76P,Synonymous_P76P,Synonymous_P76P,Synonymous_P76P,Missense_P47S,Synonymous_P76P exm1523365 20 4680290 [A/G] NM_001080121,NM_001080122,NM_183079,NM_000311,NM_001271561,NM_001080123 PRNP,PRNP,PRNP,PRNP,PRNP,PRNP EXON Missense_G142S,Missense_G142S,Missense_G142S,Missense_G142S,Silent,Missense_G142S exm1523368 20 4680378 [A/G] NM_001080121,NM_001080122,NM_183079,NM_000311,NM_001271561,NM_001080123 PRNP,PRNP,PRNP,PRNP,PRNP,PRNP EXON Missense_N171S,Missense_N171S,Missense_N171S,Missense_N171S,Silent,Missense_N171S exm1523375 20 4680489 [A/G] NM_001080121,NM_001080122,NM_183079,NM_000311,NM_001271561,NM_001080123 PRNP,PRNP,PRNP,PRNP,PRNP,PRNP EXON Missense_R208H,Missense_R208H,Missense_R208H,Missense_R208H,Silent,Missense_R208H exm1523378 20 4680521 [A/G] NM_001080121,NM_001080122,NM_183079,NM_000311,NM_001271561,NM_001080123 PRNP,PRNP,PRNP,PRNP,PRNP,PRNP EXON Missense_E219K,Missense_E219K,Missense_E219K,Missense_E219K,Silent,Missense_E219K exm1523389 20 4705274 [T/C] NM_012409 PRND EXON Missense_T26M exm1523393 20 4705364 [T/C] NM_012409 PRND EXON Missense_P56L exm1523396 20 4705396 [A/G] NM_012409 PRND EXON Missense_D67N exm1523397 20 4705400 [T/C] NM_012409 PRND EXON Missense_I68T exm2254308 20 4705413 [T/C] NM_012409 PRND EXON Synonymous_A72A exm2254309 20 4705467 [T/C] NM_012409 PRND EXON Synonymous_H90H exm1523417 20 4705718 [T/C] NM_012409 PRND EXON Missense_T174M exm1523458 20 4764975 [A/G] NM_170774,NM_014737 RASSF2,RASSF2 EXON Missense_R309W,Missense_R309W exm1523459 20 4764981 [T/C] NM_170774,NM_014737 RASSF2,RASSF2 EXON Missense_V307M,Missense_V307M exm1523483 20 4771182 [T/C] NM_170774,NM_014737 RASSF2,RASSF2 EXON Missense_R151H,Missense_R151H exm1523485 20 4771185 [T/C] NM_170774,NM_014737 RASSF2,RASSF2 EXON Missense_R150H,Missense_R150H exm1523488 20 4771233 [A/T] NM_170774,NM_014737 RASSF2,RASSF2 EXON Missense_Q134L,Missense_Q134L exm1523491 20 4773214 [A/G] NM_170774,NM_014737 RASSF2,RASSF2 EXON Missense_P116L,Missense_P116L exm1523498 20 4776548 [T/C] NM_170774,NM_014737 RASSF2,RASSF2 EXON Missense_R67H,Missense_R67H exm1523509 20 4778702 [T/C] NM_170774,NM_014737 RASSF2,RASSF2 EXON Missense_Y30C,Missense_Y30C exm2260947 20 4835338 [A/C] NM_203327,NM_005116 SLC23A2,SLC23A2 EXON Silent,Silent exm2234576 20 4837728 [T/A] NM_203327,NM_005116 SLC23A2,SLC23A2 EXON Missense_C615S,Missense_C615S exm1523535 20 4843508 [T/C] NM_203327,NM_005116 SLC23A2,SLC23A2 EXON Missense_A468T,Missense_A468T exm1523559 20 4855333 [T/G] NM_203327,NM_005116 SLC23A2,SLC23A2 EXON Missense_F278L,Missense_F278L exm1523585 20 4893594 [T/C] NM_203327,NM_005116 SLC23A2,SLC23A2 EXON Missense_G47S,Missense_G47S exm2277195 20 4913117 [A/G] NM_203327,NM_005116 SLC23A2,SLC23A2 EXON Missense_A31V,Missense_A31V exm1968826 20 4913142 [A/G] NM_203327,NM_005116 SLC23A2,SLC23A2 EXON Missense_Y23H,Missense_Y23H exm2268266 20 5029207 [A/G] exm-rs261360 20 5037774 [A/G] exm1523603 20 5086870 [T/C] NM_001009925,NM_014145,NM_001009923,NM_001009924 TMEM230,TMEM230,TMEM230,TMEM230 EXON Missense_I62M,Missense_I62M,Missense_I125M,Missense_I62M exm1523611 20 5089999 [G/C] NM_001009925,NM_014145,NM_001009923,NM_001009924 TMEM230,TMEM230,TMEM230,TMEM230 EXON Missense_D26E,Missense_D26E,Missense_D89E,Missense_D26E exm1523613 20 5090075 [A/G] NM_001009925,NM_014145,NM_001009923,NM_001009924 TMEM230,TMEM230,TMEM230,TMEM230 EXON Missense_M1T,Missense_M1T,Missense_M64T,Missense_M1T exm1523614 20 5090081 [T/C] NM_001009925,NM_014145,NM_001009923,NM_001009924 TMEM230,TMEM230,TMEM230,TMEM230 EXON Silent,Silent,Missense_R62H,Silent exm1523632 20 5096134 [A/G] NM_002592,NM_182649 PCNA,PCNA EXON Missense_S223P,Missense_S223P exm1523663 20 5154235 [A/G] NM_003818 CDS2 EXON Missense_A42T exm1523666 20 5155925 [T/C] NM_003818 CDS2 EXON Synonymous_I97I exm1523680 20 5163074 [T/C] NM_003818 CDS2 EXON Nonsense_R191X exm1523710 20 5170792 [A/G] NM_003818 CDS2 EXON Missense_R417Q exm1523724 20 5282687 [A/C] NM_144773 PROKR2 EXON Missense_X385L exm2276694 20 5282730 [G/C] NM_144773 PROKR2 EXON Missense_G371R exm1523733 20 5282850 [T/C] NM_144773 PROKR2 EXON Missense_V331M exm1523739 20 5282952 [T/C] NM_144773 PROKR2 EXON Missense_V297I exm1523749 20 5283039 [A/G] NM_144773 PROKR2 EXON Missense_R268C exm1523752 20 5283051 [A/G] NM_144773 PROKR2 EXON Missense_R264C exm1523765 20 5283323 [A/C] NM_144773 PROKR2 EXON Missense_L173R exm1523772 20 5294613 [A/G] NM_144773 PROKR2 EXON Missense_R135C exm1523774 20 5294640 [T/C] NM_144773 PROKR2 EXON Missense_V126M exm1969487 20 5294679 [A/G] NM_144773 PROKR2 EXON Missense_Y113H exm2276695 20 5294763 [A/G] NM_144773 PROKR2 EXON Missense_R85C exm1523787 20 5294853 [T/C] NM_144773 PROKR2 EXON Missense_V55I exm1523789 20 5294865 [T/C] NM_144773 PROKR2 EXON Missense_A51T exm1523811 20 5528332 [T/C] NM_019593 GPCPD1 EXON Missense_G665D exm1523813 20 5528440 [T/C] NM_019593 GPCPD1 EXON Missense_R629H exm1523819 20 5539365 [T/C] NM_019593 GPCPD1 EXON Missense_I545V exm1523821 20 5540587 [T/C] NM_019593 GPCPD1 EXON Missense_M511V exm1523847 20 5554614 [A/G] NM_019593 GPCPD1 EXON Synonymous_L335L exm1523869 20 5560671 [T/A] NM_019593 GPCPD1 EXON Missense_L152F exm1523875 20 5564963 [T/C] NM_019593 GPCPD1 EXON Missense_E105K exm2254342 20 5579454 [T/C] NM_019593 GPCPD1 EXON Synonymous_A21A exm1523882 20 5579455 [A/G] NM_019593 GPCPD1 EXON Missense_A21V exm2260957 20 5624707 [A/C] exm1523888 20 5753579 [T/C] NM_152504 C20orf196 EXON Missense_A23V exm2272873 20 5762821 [T/C] NM_152504 C20orf196 Silent exm-rs4815868 20 5840539 [A/G] NM_152504 C20orf196 Silent exm1523895 20 5843672 [A/G] NM_152504 C20orf196 EXON Missense_T61A exm1523903 20 5843912 [C/G] NM_152504 C20orf196 EXON Missense_A141P exm1523905 20 5843918 [T/C] NM_152504 C20orf196 EXON Missense_R143C exm1523907 20 5843952 [A/G] NM_152504 C20orf196 EXON Missense_R154Q exm1523913 20 5843988 [T/A] NM_152504 C20orf196 EXON Missense_D166V exm1523915 20 5844090 [T/A] NM_152504 C20orf196 EXON Missense_N200I exm1523924 20 5896996 [A/G] NM_001819 CHGB EXON Missense_N25S exm1523930 20 5897505 [A/G] NM_001819 CHGB EXON Missense_A44T exm1523936 20 5897548 [A/G] NM_001819 CHGB EXON Missense_R58H exm1523937 20 5897563 [T/C] NM_001819 CHGB EXON Missense_T63M exm1523944 20 5903067 [A/T] NM_001819 CHGB EXON Missense_S93T exm1523947 20 5903141 [C/G] NM_001819 CHGB EXON Missense_K117N exm1523948 20 5903166 [A/G] NM_001819 CHGB EXON Missense_G126R exm1523955 20 5903223 [A/G] NM_001819 CHGB EXON Missense_D145N exm1523957 20 5903323 [A/G] NM_001819 CHGB EXON Missense_R178Q exm1523960 20 5903379 [A/G] NM_001819 CHGB EXON Missense_A197T exm1523961 20 5903388 [A/C] NM_001819 CHGB EXON Missense_N200H exm1523963 20 5903479 [A/G] NM_001819 CHGB EXON Missense_H230R exm1523964 20 5903485 [A/G] NM_001819 CHGB EXON Missense_R232Q exm1523966 20 5903517 [A/G] NM_001819 CHGB EXON Missense_T243A exm1523967 20 5903563 [A/G] NM_001819 CHGB EXON Missense_R258Q exm1523971 20 5903590 [A/G] NM_001819 CHGB EXON Missense_E267G exm1523973 20 5903620 [A/G] NM_001819 CHGB EXON Missense_R277Q exm1970502 20 5903646 [A/G] NM_001819 CHGB EXON Missense_G286R exm1523985 20 5903841 [A/G] NM_001819 CHGB EXON Missense_V351I exm1523986 20 5903848 [C/G] NM_001819 CHGB EXON Missense_A353G exm1523988 20 5903871 [T/C] NM_001819 CHGB EXON Missense_R361C exm1523989 20 5903872 [A/G] NM_001819 CHGB EXON Missense_R361H exm1523992 20 5903932 [T/G] NM_001819 CHGB EXON Missense_W381L exm1523995 20 5904028 [T/C] NM_001819 CHGB EXON Missense_P413L exm1524010 20 5904289 [A/G] NM_001819 CHGB EXON Missense_R500K exm1524011 20 5904300 [A/G] NM_001819 CHGB EXON Missense_K504E exm1524019 20 5904558 [A/G] NM_001819 CHGB EXON Missense_A590T exm1524059 20 5923204 [T/C] NM_015939 TRMT6 EXON Missense_E299G exm1524060 20 5923223 [T/C] NM_015939 TRMT6 EXON Missense_E293K exm1524071 20 5924640 [A/G] NM_015939 TRMT6 EXON Missense_R166C exm1524096 20 5932770 [A/G] NM_032485,NM_182802 MCM8,MCM8 EXON Missense_R37G,Missense_R37G exm1524100 20 5933108 [A/C] NM_032485,NM_182802 MCM8,MCM8 EXON Missense_Q63K,Missense_Q63K exm1524108 20 5935292 [C/G] NM_032485,NM_182802 MCM8,MCM8 EXON Missense_A98P,Missense_A98P exm1524110 20 5935303 [A/C] NM_032485,NM_182802 MCM8,MCM8 EXON Missense_K101N,Missense_K101N exm1524113 20 5935325 [T/G] NM_032485,NM_182802 MCM8,MCM8 EXON Missense_L109V,Missense_L109V exm-rs236114 20 5935385 [T/C] NM_032485,NM_182802 MCM8,MCM8 Silent,Silent exm1524116 20 5935825 [A/G] NM_032485,NM_182802 MCM8,MCM8 EXON Missense_I138M,Missense_I138M exm1524118 20 5935832 [A/G] NM_032485,NM_182802 MCM8,MCM8 EXON Missense_I141V,Missense_I141V exm1524120 20 5935875 [A/G] NM_032485,NM_182802 MCM8,MCM8 EXON Missense_C155Y,Missense_C155Y exm1524122 20 5935893 [A/G] NM_032485,NM_182802 MCM8,MCM8 EXON Missense_H161R,Missense_H161R exm1524126 20 5937833 [A/G] NM_032485,NM_182802 MCM8,MCM8 EXON Missense_N183S,Missense_N183S exm2254355 20 5939177 [A/G] NM_032485,NM_182802 MCM8,MCM8 EXON Synonymous_V198V,Synonymous_V198V exm-rs454422 20 5943693 [A/C] NM_032485,NM_182802 MCM8,MCM8 Silent,Silent exm1524137 20 5943962 [T/C] NM_032485,NM_182802 MCM8,MCM8 EXON Missense_R278C,Missense_R278C exm1524138 20 5943974 [T/C] NM_032485,NM_182802 MCM8,MCM8 EXON Missense_L282F,Missense_L282F exm1524139 20 5943984 [T/C] NM_032485,NM_182802 MCM8,MCM8 EXON Missense_T285M,Missense_T285M exm1524143 20 5948123 [A/G] NM_032485,NM_182802 MCM8,MCM8 EXON Missense_R306Q,Missense_R306Q exm1524149 20 5948185 [A/G] NM_032485,NM_182802 MCM8,MCM8 EXON Missense_D327N,Missense_D327N exm1524150 20 5948187 [A/C] NM_032485,NM_182802 MCM8,MCM8 EXON Missense_D327E,Missense_D327E exm1524152 20 5948227 [A/G] NM_032485,NM_182802 MCM8,MCM8 EXON Missense_E341K,Missense_E341K exm1524156 20 5948542 [A/G] NM_032485,NM_182802 MCM8,MCM8 EXON Missense_S365N,Missense_S349N exm1524173 20 5958532 [A/G] NM_032485,NM_182802 MCM8,MCM8 EXON Missense_N469S,Missense_N453S exm1524178 20 5958608 [T/G] NM_032485,NM_182802 MCM8,MCM8 EXON Missense_D494E,Missense_D478E exm1524183 20 5963747 [A/G] NM_032485,NM_182802 MCM8,MCM8 EXON Missense_I557V,Missense_I541V exm1524186 20 5965465 [T/C] NM_032485,NM_182802 MCM8,MCM8 EXON Missense_F591S,Missense_F575S exm1524188 20 5965527 [A/G] NM_032485,NM_182802 MCM8,MCM8 EXON Missense_I612V,Missense_I596V exm1524190 20 5965549 [T/C] NM_032485,NM_182802 MCM8,MCM8 EXON Missense_T619I,Missense_T603I exm1524197 20 5966578 [A/G] NM_032485,NM_182802 MCM8,MCM8 EXON Missense_G655E,Missense_G639E exm1524200 20 5966626 [T/G] NM_032485,NM_182802 MCM8,MCM8 EXON Missense_G671V,Missense_G655V exm1524203 20 5966674 [A/G] NM_032485,NM_182802 MCM8,MCM8 EXON Missense_R687Q,Missense_R671Q exm1524206 20 5966763 [A/G] NM_032485,NM_182802 MCM8,MCM8 EXON Missense_I717V,Missense_I701V exm1524209 20 5967973 [A/G] NM_032485,NM_182802 MCM8,MCM8 EXON Missense_A737T,Missense_A721T exm1524213 20 5974202 [T/C] NM_032485,NM_182802 MCM8,MCM8 EXON Missense_S764F,Missense_S748F exm1524215 20 5974238 [T/C] NM_032485,NM_182802 MCM8,MCM8 EXON Missense_A776V,Missense_A760V exm1524216 20 5974265 [A/G] NM_032485,NM_182802 MCM8,MCM8 EXON Missense_N785S,Missense_N769S exm1524221 20 5974313 [A/G] NM_032485,NM_182802 MCM8,MCM8 EXON Missense_R801Q,Missense_R785Q exm1524246 20 6011934 [T/C] NM_019095,NM_001127458 CRLS1,CRLS1 EXON Missense_P193L,Missense_P94L exm1524247 20 6011943 [A/G] NM_019095,NM_001127458 CRLS1,CRLS1 EXON Missense_Y196C,Missense_Y97C exm1524249 20 6011982 [T/C] NM_019095,NM_001127458 CRLS1,CRLS1 EXON Missense_V209A,Missense_V110A exm1524258 20 6015189 [T/C] NM_019095,NM_001127458 CRLS1,CRLS1 EXON Missense_L270P,Missense_L171P exm2254358 20 6017765 [T/C] NM_019095,NM_001127458 CRLS1,CRLS1 EXON Synonymous_Y289Y,Synonymous_Y190Y exm1524266 20 6021703 [T/C] NM_152611 LRRN4 EXON Missense_D730N exm1524272 20 6021768 [A/C] NM_152611 LRRN4 EXON Missense_R708L exm1524279 20 6021877 [T/C] NM_152611 LRRN4 EXON Missense_A672T exm1524284 20 6021948 [T/C] NM_152611 LRRN4 EXON Missense_R648H exm1524294 20 6022131 [T/C] NM_152611 LRRN4 EXON Missense_G587E exm1524297 20 6022192 [A/G] NM_152611 LRRN4 EXON Missense_R567W exm1970617 20 6022222 [T/C] NM_152611 LRRN4 EXON Missense_T557A exm1524298 20 6022246 [T/A] NM_152611 LRRN4 EXON Missense_Y549N exm2234667 20 6022425 [G/C] NM_152611 LRRN4 EXON Missense_S489W exm1524309 20 6022529 [C/G] NM_152611 LRRN4 EXON Missense_R454S exm1524310 20 6022540 [T/C] NM_152611 LRRN4 EXON Missense_S451G exm1524318 20 6022657 [T/C] NM_152611 LRRN4 EXON Missense_V412M exm1524324 20 6022753 [A/G] NM_152611 LRRN4 EXON Missense_R380C exm1524328 20 6022813 [T/C] NM_152611 LRRN4 EXON Missense_G360R exm1524329 20 6022851 [T/C] NM_152611 LRRN4 EXON Missense_G347D exm1524340 20 6031477 [T/C] NM_152611 LRRN4 EXON Missense_A270T exm1524341 20 6031509 [T/C] NM_152611 LRRN4 EXON Missense_D259G exm1524376 20 6033192 [T/A] NM_152611 LRRN4 EXON Missense_N85I exm1524382 20 6033358 [T/C] NM_152611 LRRN4 EXON Missense_V30I exm1524383 20 6033379 [T/C] NM_152611 LRRN4 EXON Missense_E23K exm-rs2326679 20 6035228 [T/C] exm1524388 20 6057860 [T/G] NM_017671 FERMT1 EXON Missense_D665A exm1524396 20 6060151 [T/C] NM_017671 FERMT1 EXON Missense_G598R exm1970753 20 6060181 [T/C] NM_017671 FERMT1 EXON Missense_N588D exm1970759 20 6064778 [T/C] NM_017671 FERMT1 EXON Missense_V543M exm1524404 20 6064805 [T/C] NM_017671 FERMT1 EXON Missense_A534T exm1524408 20 6065729 [T/C] NM_017671 FERMT1 EXON Missense_R526K exm1524416 20 6065922 [T/C] NM_017671 FERMT1 EXON Missense_A462T exm1524417 20 6065923 [A/G] NM_017671 FERMT1 EXON Synonymous_Y461Y exm1524418 20 6068442 [T/C] NM_017671 FERMT1 EXON Missense_M451I exm2254361 20 6069723 [A/G] NM_017671 FERMT1 EXON Synonymous_L385L exm1524439 20 6078218 [A/C] NM_017671 FERMT1 EXON Nonsense_E304X exm1524442 20 6078265 [T/C] NM_017671 FERMT1 EXON Missense_R288Q exm1524446 20 6088255 [A/G] NM_017671 FERMT1 EXON Missense_M258T exm1524447 20 6088265 [A/G] NM_017671 FERMT1 EXON Missense_R255C exm1524451 20 6090969 [A/G] NM_017671 FERMT1 EXON Missense_V241A exm1524452 20 6090996 [A/G] NM_017671 FERMT1 EXON Missense_A232V exm1524459 20 6091054 [T/C] NM_017671 FERMT1 EXON Missense_E213K exm1524465 20 6093177 [A/G] NM_017671 FERMT1 EXON Missense_I160T exm1524466 20 6093189 [T/C] NM_017671 FERMT1 EXON Missense_N156S exm1524469 20 6096520 [G/C] NM_017671 FERMT1 EXON Missense_R108T exm1524471 20 6096544 [T/C] NM_017671 FERMT1 EXON Missense_R100H exm1524472 20 6096550 [T/C] NM_017671 FERMT1 EXON Missense_R98H exm1524473 20 6096551 [A/G] NM_017671 FERMT1 EXON Missense_R98C exm1524485 20 6100138 [T/C] NM_017671 FERMT1 EXON Missense_N22D exm-rs961253 20 6404281 [A/C] exm2272874 20 6578556 [T/C] exm-rs967417 20 6620893 [A/G] exm-rs2145270 20 6621685 [T/C] exm1524497 20 6750882 [T/G] NM_001200 BMP2 EXON Missense_S37A exm1524506 20 6758916 [T/C] NM_001200 BMP2 EXON Missense_T124M exm1524508 20 6758938 [T/A] NM_001200 BMP2 EXON Missense_R131S exm1524530 20 6759351 [A/G] NM_001200 BMP2 EXON Missense_H269R exm1524535 20 6759575 [A/G] NM_001200 BMP2 EXON Missense_I344V exm1524536 20 6759585 [T/C] NM_001200 BMP2 EXON Missense_T347M exm2268267 20 6778164 [A/G] exm2268322 20 7008824 [A/G] exm-rs6085920 20 7180056 [A/T] exm2272875 20 7482971 [T/C] exm-rs6108011 20 7552504 [T/C] exm1524552 20 7864284 [T/C] NM_017545 HAO1 EXON Missense_K357E exm1524553 20 7866188 [A/C] NM_017545 HAO1 EXON Missense_R341L exm1973216 20 7866394 [T/C] NM_017545 HAO1 EXON Missense_V311M exm1524559 20 7866442 [A/G] NM_017545 HAO1 EXON Missense_R295W exm1524566 20 7875820 [A/G] NM_017545 HAO1 EXON Missense_S258L exm1524569 20 7886800 [A/C] NM_017545 HAO1 Silent exm1524571 20 7886834 [A/G] NM_017545 HAO1 EXON Missense_S230P exm1524573 20 7886869 [T/C] NM_017545 HAO1 EXON Missense_S218N exm1524584 20 7894856 [A/C] NM_017545 HAO1 EXON Missense_R167L exm1524588 20 7894946 [T/C] NM_017545 HAO1 EXON Missense_R137Q exm1524595 20 7895039 [A/G] NM_017545 HAO1 EXON Missense_M106T exm1973235 20 7915210 [A/C] NM_017545 HAO1 EXON Missense_R70S exm1524599 20 7915212 [T/C] NM_017545 HAO1 EXON Missense_R70G exm2268323 20 7961715 [A/G] exm2273577 20 7962707 [A/C] NM_021156 TMX4 EXON Silent exm1524618 20 7963041 [T/C] NM_021156 TMX4 EXON Missense_G303R exm1524633 20 7964446 [T/C] NM_021156 TMX4 EXON Missense_R225H exm1524635 20 7964476 [T/C] NM_021156 TMX4 EXON Missense_Y215C exm1524652 20 7980464 [A/G] NM_021156 TMX4 EXON Missense_F128L exm1524658 20 7990898 [T/C] NM_021156 TMX4 EXON Missense_G81S exm2268268 20 8051783 [A/G] exm1524667 20 8113326 [T/G] NM_182734,NM_015192 PLCB1,PLCB1 EXON Missense_A10S,Missense_A10S exm-rs6118083 20 8114704 [A/G] NM_182734,NM_015192 PLCB1,PLCB1 Silent,Silent exm2268269 20 8626282 [A/G] NM_182734,NM_015192 PLCB1,PLCB1 Silent,Silent exm1524686 20 8626822 [T/A] NM_182734,NM_015192 PLCB1,PLCB1 EXON Missense_E153V,Missense_E153V exm1973316 20 8637875 [A/C] NM_182734,NM_015192 PLCB1,PLCB1 EXON Missense_R213S,Missense_R213S exm1973323 20 8639213 [A/G] NM_182734,NM_015192 PLCB1,PLCB1 EXON Missense_V242I,Missense_V242I exm1524721 20 8698415 [T/G] NM_182734,NM_015192 PLCB1,PLCB1 EXON Missense_G478V,Missense_G478V exm1524723 20 8698451 [A/G] NM_182734,NM_015192 PLCB1,PLCB1 EXON Missense_Y490C,Missense_Y490C exm2254411 20 8698473 [T/C] NM_182734,NM_015192 PLCB1,PLCB1 EXON Synonymous_F497F,Synonymous_F497F exm1524726 20 8703013 [T/C] NM_182734,NM_015192 PLCB1,PLCB1 EXON Missense_T509M,Missense_T509M exm1524731 20 8703060 [A/G] NM_182734,NM_015192 PLCB1,PLCB1 EXON Missense_M525V,Missense_M525V exm1524749 20 8713940 [A/C] NM_182734,NM_015192 PLCB1,PLCB1 EXON Nonsense_Y648X,Nonsense_Y648X exm1524759 20 8717822 [C/G] NM_182734,NM_015192 PLCB1,PLCB1 EXON Missense_P731A,Missense_P731A exm1524768 20 8721036 [T/C] NM_182734,NM_015192 PLCB1,PLCB1 EXON Missense_T785M,Missense_T785M exm1524778 20 8737719 [T/G] NM_182734,NM_015192 PLCB1,PLCB1 EXON Missense_E850D,Missense_E850D exm1524780 20 8737739 [T/C] NM_182734,NM_015192 PLCB1,PLCB1 EXON Missense_T857M,Missense_T857M exm2254412 20 8745916 [A/G] NM_182734,NM_015192 PLCB1,PLCB1 EXON Synonymous_E947E,Synonymous_E947E exm2254413 20 8769293 [T/C] NM_182734,NM_015192 PLCB1,PLCB1 EXON Synonymous_L1068L,Synonymous_L1068L exm1524812 20 8770822 [T/C] NM_182734,NM_015192 PLCB1,PLCB1 EXON Synonymous_L1113L,Synonymous_L1113L exm1524812-other 20 8770822 [T/C] NM_182734,NM_015192 PLCB1,PLCB1 EXON Synonymous_L1113L,Synonymous_L1113L exm1524814 20 8770832 [T/C] NM_182734,NM_015192 PLCB1,PLCB1 EXON Missense_A1116V,Missense_A1116V exm-rs6140742 20 8819112 [G/C] NM_182734,NM_015192 PLCB1,PLCB1 Silent,Silent exm-rs6056209 20 8836771 [A/G] NM_182734,NM_015192 PLCB1,PLCB1 Silent,Silent exm1524829 20 8862395 [T/C] NM_182734,NM_015192 PLCB1,PLCB1 EXON Silent,Missense_L1184F exm1524830 20 8862429 [A/G] NM_182734,NM_015192 PLCB1,PLCB1 EXON Silent,Missense_H1195R exm1524834 20 8862480 [T/C] NM_182734,NM_015192 PLCB1,PLCB1 EXON Silent,Missense_F1212S exm1524835 20 8862488 [T/C] NM_182734,NM_015192 PLCB1,PLCB1 EXON Silent,Missense_P1215S exm2268270 20 9177112 [A/G] NM_001172646 PLCB4 Silent exm-rs6056505 20 9243782 [T/C] NM_001172646,NM_182797 PLCB4,PLCB4 Silent,Silent exm1524839 20 9288522 [A/G] NM_001172646,NM_182797,NM_000933 PLCB4,PLCB4,PLCB4 EXON Missense_A21T,Missense_A21T,Missense_A21T exm1524840 20 9288523 [A/C] NM_001172646,NM_182797,NM_000933 PLCB4,PLCB4,PLCB4 EXON Missense_A21E,Missense_A21E,Missense_A21E exm2260971 20 9292176 [A/C] NM_001172646,NM_182797,NM_000933 PLCB4,PLCB4,PLCB4 Silent,Silent,Silent exm1524862 20 9352971 [A/G] NM_001172646,NM_182797,NM_000933 PLCB4,PLCB4,PLCB4 EXON Missense_A203T,Missense_A203T,Missense_A203T exm1524868 20 9360789 [T/A] NM_001172646,NM_182797,NM_000933 PLCB4,PLCB4,PLCB4 EXON Missense_D278V,Missense_D278V,Missense_D278V exm1524872 20 9364916 [T/C] NM_001172646,NM_182797,NM_000933 PLCB4,PLCB4,PLCB4 EXON Missense_R308C,Missense_R308C,Missense_R308C exm-rs2072910 20 9365303 [T/C] NM_001172646,NM_182797,NM_000933 PLCB4,PLCB4,PLCB4 Silent,Silent,Silent exm1524882 20 9371261 [A/C] NM_001172646,NM_182797,NM_000933 PLCB4,PLCB4,PLCB4 EXON Missense_P441Q,Missense_P441Q,Missense_P441Q exm1524884 20 9374275 [A/G] NM_001172646,NM_182797,NM_000933 PLCB4,PLCB4,PLCB4 EXON Missense_K455R,Missense_K455R,Missense_K455R exm1973415 20 9376217 [T/G] NM_001172646,NM_182797,NM_000933 PLCB4,PLCB4,PLCB4 EXON Missense_S488A,Missense_S488A,Missense_S488A exm1524890 20 9382172 [T/C] NM_001172646,NM_182797,NM_000933 PLCB4,PLCB4,PLCB4 EXON Missense_F516L,Missense_F516L,Missense_F516L exm1524940 20 9424868 [A/C] NM_001172646,NM_182797,NM_000933 PLCB4,PLCB4,PLCB4 EXON Missense_S953Y,Missense_S941Y,Missense_S941Y exm1524947 20 9434049 [A/G] NM_001172646,NM_182797,NM_000933 PLCB4,PLCB4,PLCB4 EXON Missense_Q979R,Missense_Q967R,Missense_Q967R exm1973453 20 9440331 [A/G] NM_001172646,NM_182797,NM_000933 PLCB4,PLCB4,PLCB4 EXON Missense_N1041S,Missense_N1029S,Missense_N1029S exm1524960 20 9440361 [A/G] NM_001172646,NM_182797,NM_000933 PLCB4,PLCB4,PLCB4 EXON Missense_R1051Q,Missense_R1039Q,Missense_R1039Q exm1524961 20 9440396 [A/C] NM_001172646,NM_182797,NM_000933 PLCB4,PLCB4,PLCB4 EXON Missense_K1063Q,Missense_K1051Q,Missense_K1051Q exm1524982 20 9495534 [A/G] NM_012261,NM_001199897 LAMP5,LAMP5 EXON Missense_D12G,Missense_D12G exm1524992 20 9496671 [A/G] NM_012261,NM_001199897 LAMP5,LAMP5 EXON Missense_A88T,Silent exm1524997 20 9496716 [G/C] NM_012261,NM_001199897 LAMP5,LAMP5 EXON Missense_Q103E,Silent exm1525004 20 9497005 [A/G] NM_012261,NM_001199897 LAMP5,LAMP5 EXON Missense_S158G,Missense_S114G exm1525015 20 9498804 [T/C] NM_012261,NM_001199897 LAMP5,LAMP5 EXON Missense_T198M,Missense_T154M exm1525019 20 9498863 [T/G] NM_012261,NM_001199897 LAMP5,LAMP5 EXON Missense_V218F,Missense_V174F exm1973510 20 9520135 [C/G] NM_177990,NM_020341 PAK7,PAK7 EXON Missense_L712V,Missense_L712V exm1525042 20 9523244 [T/C] NM_177990,NM_020341 PAK7,PAK7 EXON Missense_D665N,Missense_D665N exm1525053 20 9538335 [A/C] NM_177990,NM_020341 PAK7,PAK7 EXON Missense_A555S,Missense_A555S exm1525055 20 9543622 [T/C] NM_177990,NM_020341 PAK7,PAK7 EXON Missense_S511N,Missense_S511N exm1525057 20 9543640 [T/C] NM_177990,NM_020341 PAK7,PAK7 EXON Missense_N505S,Missense_N505S exm2234810 20 9546575 [A/G] NM_177990,NM_020341 PAK7,PAK7 EXON Missense_R483W,Missense_R483W exm1525073 20 9546844 [T/C] NM_177990,NM_020341 PAK7,PAK7 EXON Missense_Q393R,Missense_Q393R exm1525083 20 9547018 [C/G] NM_177990,NM_020341 PAK7,PAK7 EXON Missense_R335P,Missense_R335P exm1525084 20 9547022 [C/G] NM_177990,NM_020341 PAK7,PAK7 EXON Missense_D334H,Missense_D334H exm1525087 20 9560814 [T/C] NM_177990,NM_020341 PAK7,PAK7 EXON Missense_E323G,Missense_E323G exm1525097 20 9560961 [T/C] NM_177990,NM_020341 PAK7,PAK7 EXON Missense_N274S,Missense_N274S exm1525102 20 9561108 [G/C] NM_177990,NM_020341 PAK7,PAK7 EXON Missense_S225T,Missense_S225T exm1525109 20 9561290 [A/G] NM_177990,NM_020341 PAK7,PAK7 EXON Synonymous_H164H,Synonymous_H164H exm1525118 20 9561429 [T/C] NM_177990,NM_020341 PAK7,PAK7 EXON Missense_G118D,Missense_G118D exm1525119 20 9561435 [T/C] NM_177990,NM_020341 PAK7,PAK7 EXON Missense_G116D,Missense_G116D exm-rs2423467 20 9741876 [A/G] NM_177990,NM_020341 PAK7,PAK7 Silent,Silent exm1525127 20 10018954 [T/C] NR_040710,NM_022096,NM_198798 SNAP25-AS1,ANKEF1,ANKEF1 EXON Silent,Missense_A2V,Missense_A2V exm1525129 20 10018992 [A/C] NR_040710,NM_022096,NM_198798 SNAP25-AS1,ANKEF1,ANKEF1 EXON Silent,Missense_K15Q,Missense_K15Q exm1525131 20 10019010 [T/C] NR_040710,NM_022096,NM_198798 SNAP25-AS1,ANKEF1,ANKEF1 EXON Silent,Missense_R21W,Missense_R21W exm1525134 20 10019061 [A/G] NR_040710,NM_022096,NM_198798 SNAP25-AS1,ANKEF1,ANKEF1 EXON Silent,Missense_E38K,Missense_E38K exm1525144 20 10019169 [A/C] NR_040710,NM_022096,NM_198798 SNAP25-AS1,ANKEF1,ANKEF1 EXON Silent,Missense_P74T,Missense_P74T exm1525145 20 10019244 [A/G] NR_040710,NM_022096,NM_198798 SNAP25-AS1,ANKEF1,ANKEF1 EXON Silent,Missense_I99V,Missense_I99V exm1525163 20 10025052 [A/G] NR_040710,NM_022096,NM_198798 SNAP25-AS1,ANKEF1,ANKEF1 EXON Silent,Missense_R186H,Missense_R186H exm1525167 20 10025144 [A/G] NR_040710,NM_022096,NM_198798 SNAP25-AS1,ANKEF1,ANKEF1 EXON Silent,Missense_D217N,Missense_D217N exm1525175 20 10026255 [A/G] NR_040710,NM_022096,NM_198798 SNAP25-AS1,ANKEF1,ANKEF1 EXON Silent,Missense_V244M,Missense_V244M exm1525185 20 10030188 [A/T] NR_040710,NM_022096,NM_198798 SNAP25-AS1,ANKEF1,ANKEF1 EXON Silent,Missense_L324Q,Missense_L324Q exm1525201 20 10030452 [A/G] NR_040710,NM_022096,NM_198798 SNAP25-AS1,ANKEF1,ANKEF1 EXON Silent,Missense_G412E,Missense_G412E exm2254140 20 10030508 [T/C] NR_040710,NM_022096,NM_198798 SNAP25-AS1,ANKEF1,ANKEF1 EXON Silent,Synonymous_L431L,Synonymous_L431L exm1525206 20 10030553 [T/C] NR_040710,NM_022096,NM_198798 SNAP25-AS1,ANKEF1,ANKEF1 EXON Silent,Missense_R446W,Missense_R446W exm1525208 20 10030572 [T/C] NR_040710,NM_022096,NM_198798 SNAP25-AS1,ANKEF1,ANKEF1 EXON Silent,Missense_P452L,Missense_P452L exm1958965 20 10030595 [A/G] NR_040710,NM_022096,NM_198798 SNAP25-AS1,ANKEF1,ANKEF1 EXON Silent,Missense_K460E,Missense_K460E exm1525210 20 10030617 [A/G] NR_040710,NM_022096,NM_198798 SNAP25-AS1,ANKEF1,ANKEF1 EXON Silent,Missense_R467Q,Missense_R467Q exm1525214 20 10030776 [T/C] NR_040710,NM_022096,NM_198798 SNAP25-AS1,ANKEF1,ANKEF1 EXON Silent,Missense_M520T,Missense_M520T exm1525215 20 10030800 [A/C] NR_040710,NM_022096,NM_198798 SNAP25-AS1,ANKEF1,ANKEF1 EXON Silent,Missense_P528Q,Missense_P528Q exm1958969 20 10032346 [T/C] NR_040710,NM_022096,NM_198798 SNAP25-AS1,ANKEF1,ANKEF1 EXON Silent,Missense_T560I,Missense_T560I exm1525222 20 10032432 [A/G] NR_040710,NM_022096,NM_198798 SNAP25-AS1,ANKEF1,ANKEF1 EXON Silent,Missense_I589V,Missense_I589V exm1525233 20 10033871 [A/G] NR_040710,NM_022096,NM_198798 SNAP25-AS1,ANKEF1,ANKEF1 EXON Silent,Missense_G661D,Missense_G661D exm1525238 20 10033921 [A/G] NR_040710,NM_022096,NM_198798 SNAP25-AS1,ANKEF1,ANKEF1 EXON Silent,Missense_E678K,Missense_E678K exm1525240 20 10035140 [A/G] NR_040710,NM_022096,NM_198798 SNAP25-AS1,ANKEF1,ANKEF1 EXON Silent,Missense_T689A,Missense_T689A exm2276697 20 10035242 [A/C] NR_040710,NM_022096,NM_198798 SNAP25-AS1,ANKEF1,ANKEF1 EXON Silent,Synonymous_R723R,Synonymous_R723R exm1525246 20 10036151 [T/G] NR_040710,NM_022096,NM_198798 SNAP25-AS1,ANKEF1,ANKEF1 EXON Silent,Missense_I725S,Missense_I725S exm1525249 20 10036202 [A/G] NR_040710,NM_022096,NM_198798 SNAP25-AS1,ANKEF1,ANKEF1 EXON Silent,Missense_R742Q,Missense_R742Q exm1525250 20 10036205 [A/G] NR_040710,NM_022096,NM_198798 SNAP25-AS1,ANKEF1,ANKEF1 EXON Silent,Missense_R743Q,Missense_R743Q exm2268271 20 10110237 [A/G] NR_040710 SNAP25-AS1 Silent exm2268325 20 10281370 [A/G] NM_003081,NM_130811 SNAP25,SNAP25 Silent,Silent exm1525288 20 10385919 [A/T] NR_072977,NM_018848,NM_170784 MKKS,MKKS,MKKS EXON Silent,Synonymous_S563S,Synonymous_S563S exm2254141 20 10385919 [A/T] NR_072977,NM_018848,NM_170784 MKKS,MKKS,MKKS EXON Silent,Synonymous_S563S,Synonymous_S563S exm1525290 20 10386013 [A/C] NR_072977,NM_018848,NM_170784 MKKS,MKKS,MKKS EXON Silent,Missense_G532V,Missense_G532V exm1525292 20 10386055 [T/C] NR_072977,NM_018848,NM_170784 MKKS,MKKS,MKKS EXON Silent,Missense_R518H,Missense_R518H exm1525294 20 10386059 [A/G] NR_072977,NM_018848,NM_170784 MKKS,MKKS,MKKS EXON Silent,Missense_R517C,Missense_R517C exm1525298 20 10386146 [T/C] NR_072977,NM_018848,NM_170784 MKKS,MKKS,MKKS EXON Silent,Missense_A488T,Missense_A488T exm2276698 20 10389326 [A/C] NR_072977,NM_018848,NM_170784 MKKS,MKKS,MKKS EXON Silent,Missense_C371G,Missense_C371G exm1525310 20 10389339 [T/A] NR_072977,NM_018848,NM_170784 MKKS,MKKS,MKKS EXON Silent,Missense_N366K,Missense_N366K exm1525315 20 10389422 [T/C] NR_072977,NM_018848,NM_170784 MKKS,MKKS,MKKS EXON Silent,Missense_I339V,Missense_I339V exm1525324 20 10393237 [T/C] NR_072977,NM_018848,NM_170784 MKKS,MKKS,MKKS EXON Silent,Missense_R309H,Missense_R309H exm1959015 20 10393406 [A/G] NR_072977,NM_018848,NM_170784 MKKS,MKKS,MKKS EXON Silent,Missense_S253P,Missense_S253P exm1525334 20 10393439 [A/C] NR_072977,NM_018848,NM_170784 MKKS,MKKS,MKKS EXON Silent,Missense_A242S,Missense_A242S exm1959018 20 10393747 [T/C] NR_072977,NM_018848,NM_170784 MKKS,MKKS,MKKS EXON Silent,Missense_R139Q,Missense_R139Q exm1525353 20 10394096 [T/C] NR_072977,NM_018848,NM_170784 MKKS,MKKS,MKKS EXON Silent,Missense_R23G,Missense_R23G exm1525355 20 10394147 [T/C] NR_072977,NM_018848,NM_170784 MKKS,MKKS,MKKS EXON Silent,Missense_A6T,Missense_A6T exm1525360 20 10536882 [C/G] NM_001009608 SLX4IP EXON Missense_G11R exm1525370 20 10579373 [T/C] NM_001009608 SLX4IP EXON Missense_R97C exm1525371 20 10579398 [T/C] NM_001009608 SLX4IP EXON Missense_A105V exm1525375 20 10601966 [A/G] NM_001009608 SLX4IP EXON Missense_E137G exm1525383 20 10603326 [A/G] NM_001009608 SLX4IP EXON Missense_K176E exm1525387 20 10603414 [A/G] NM_001009608 SLX4IP EXON Missense_R205K exm1525392 20 10603531 [A/C] NM_001009608 SLX4IP EXON Missense_N244T exm1525393 20 10603579 [A/G] NM_001009608 SLX4IP EXON Missense_G260E exm1525401 20 10603750 [A/G] NM_001009608 SLX4IP EXON Missense_R317Q exm1525418 20 10620151 [T/C] NM_000214 JAG1 EXON Missense_V1218I exm1525419 20 10620165 [T/C] NM_000214 JAG1 EXON Missense_R1213Q exm1525431 20 10620336 [A/G] NM_000214 JAG1 EXON Missense_V1156A exm1525443 20 10620507 [A/G] NM_000214 JAG1 EXON Missense_P1099L exm1525445 20 10620523 [A/G] NM_000214 JAG1 EXON Missense_R1094W exm1525463 20 10621808 [T/C] NM_000214 JAG1 EXON Missense_A1001T exm1525468 20 10622214 [T/C] NM_000214 JAG1 EXON Missense_R937Q exm2254143 20 10622246 [A/G] NM_000214 JAG1 EXON Synonymous_F926F exm1525480 20 10622523 [T/C] NM_000214 JAG1 EXON Missense_I864V exm1525497 20 10625555 [A/G] NM_000214 JAG1 EXON Missense_T767M exm2254144 20 10625569 [A/G] NM_000214 JAG1 EXON Synonymous_N762N exm1525501 20 10625624 [T/C] NM_000214 JAG1 EXON Missense_R744Q exm1525504 20 10626016 [T/G] NM_000214 JAG1 EXON Missense_T701P exm2275135 20 10628673 [A/G] NM_000214 JAG1 EXON Missense_P552L exm1525544 20 10632306 [T/C] NM_000214 JAG1 EXON Missense_R348K exm1525550 20 10633188 [T/C] NM_000214 JAG1 EXON Missense_V272I exm1959100 20 10639284 [T/C] NM_000214 JAG1 EXON Missense_V176I exm1525564 20 10644614 [T/C] NM_000214 JAG1 EXON Missense_V146I exm1525573 20 10653471 [G/C] NM_000214 JAG1 EXON Missense_G89R exm1959106 20 10653603 [A/C] NM_000214 JAG1 EXON Missense_V45L exm1525577 20 10653654 [C/G] NM_000214 JAG1 EXON Missense_V28L exm-rs1884136 20 10850464 [T/G] exm2268273 20 10965998 [A/G] exm-rs4813048 20 11169603 [T/C] exm-rs2207418 20 11174903 [A/G] exm2260903 20 11289485 [A/G] exm2254148 20 11697512 [T/C] exm1525600 20 11900441 [T/C] NM_181443,NM_014962 BTBD3,BTBD3 EXON Missense_R104C,Missense_R165C exm1525601 20 11900442 [A/G] NM_181443,NM_014962 BTBD3,BTBD3 EXON Missense_R104H,Missense_R165H exm1525622 20 11904019 [A/G] NM_181443,NM_014962 BTBD3,BTBD3 EXON Missense_K364R,Missense_K425R exm1525626 20 11904091 [A/G] NM_181443,NM_014962 BTBD3,BTBD3 EXON Missense_N388S,Missense_N449S exm2272877 20 12004113 [T/C] exm2272917 20 12354153 [T/G] exm2272918 20 12632735 [T/C] exm2264697 20 12659751 [A/C] exm-rs1321936 20 12826999 [A/G] exm-rs2073233 20 12874585 [T/C] exm2268274 20 12902066 [A/G] exm-rs364585 20 12962718 [A/G] exm-rs680379 20 12969400 [A/G] exm1525636 20 12989981 [A/T] NM_018327 SPTLC3 EXON Missense_N22K exm1525638 20 12990024 [A/G] NM_018327 SPTLC3 EXON Missense_E37K exm1525700 20 13098275 [T/C] NM_018327 SPTLC3 EXON Missense_T352M exm-rs17190927 20 13123733 [T/G] NM_018327 SPTLC3 Silent exm1525716 20 13140720 [A/G] NM_018327 SPTLC3 EXON Missense_A496T exm1525724 20 13145471 [A/G] NM_018327 SPTLC3 EXON Missense_R539H exm1525725 20 13145492 [T/C] NM_018327 SPTLC3 EXON Missense_T546M exm1525727 20 13145506 [A/G] NM_018327 SPTLC3 EXON Missense_E551K exm1525740 20 13251316 [T/C] NM_080826 ISM1 EXON Missense_S102P exm1525741 20 13251325 [T/C] NM_080826 ISM1 EXON Missense_L105F exm1959265 20 13251388 [G/C] NM_080826 ISM1 EXON Missense_Q126E exm1525747 20 13260299 [A/G] NM_080826 ISM1 EXON Missense_D133N exm1525750 20 13260378 [A/G] NM_080826 ISM1 EXON Missense_R159Q exm2254154 20 13269200 [A/C] NM_080826 ISM1 EXON Synonymous_G219G exm1525766 20 13273069 [T/C] NM_080826 ISM1 EXON Missense_A279V exm1959285 20 13279717 [A/G] NM_080826 ISM1 EXON Missense_D336N exm1525777 20 13280042 [A/G] NM_080826 ISM1 EXON Missense_K444R exm-rs1223271 20 13296912 [A/G] exm1525789 20 13463882 [T/C] NM_017714 TASP1 EXON Missense_K326R exm1525800 20 13539686 [T/G] NM_017714 TASP1 EXON Missense_Q215P exm2272878 20 13562481 [T/C] NM_017714 TASP1 Silent exm1525829 20 13610619 [T/C] NM_017714 TASP1 EXON Missense_Y36C exm1525832 20 13610664 [A/G] NM_017714 TASP1 EXON Missense_S21L exm1525841 20 13695607 [T/G] NM_016649,NM_001276380 ESF1,ESF1 EXON Missense_I824L,Missense_I824L exm1525845 20 13695693 [T/C] NM_016649,NM_001276380 ESF1,ESF1 EXON Missense_R795Q,Missense_R795Q exm1525847 20 13695762 [T/C] NM_016649,NM_001276380 ESF1,ESF1 EXON Missense_N772S,Missense_N772S exm1525859 20 13698091 [A/G] NM_016649,NM_001276380 ESF1,ESF1 EXON Missense_V729A,Missense_V729A exm1525861 20 13698107 [T/C] NM_016649,NM_001276380 ESF1,ESF1 EXON Missense_N724D,Missense_N724D exm1525874 20 13714384 [A/C] NM_016649,NM_001276380 ESF1,ESF1 EXON Missense_L645R,Missense_L645R exm1525891 20 13740356 [T/G] NM_016649,NM_001276380 ESF1,ESF1 EXON Missense_E604A,Missense_E604A exm1525893 20 13740500 [T/C] NM_016649,NM_001276380 ESF1,ESF1 EXON Missense_G556D,Missense_G556D exm1525896 20 13747441 [A/G] NM_016649,NM_001276380 ESF1,ESF1 EXON Missense_I550T,Missense_I550T exm1525897 20 13747442 [T/C] NM_016649,NM_001276380 ESF1,ESF1 EXON Missense_I550V,Missense_I550V exm1525903 20 13750554 [A/G] NM_016649,NM_001276380 ESF1,ESF1 EXON Missense_T506M,Missense_T506M exm1525920 20 13756539 [A/C] NM_016649,NM_001276380 ESF1,ESF1 EXON Missense_D339Y,Missense_D339Y exm1525939 20 13763263 [T/C] NM_016649,NM_001276380 ESF1,ESF1 EXON Missense_H175R,Missense_H175R exm1525964 20 13763693 [T/C] NM_016649,NM_001276380 ESF1,ESF1 EXON Missense_V32I,Missense_V32I exm1525966 20 13763754 [G/C] NM_016649,NM_001276380 ESF1,ESF1 EXON Missense_Q11H,Missense_Q11H exm1525983 20 13765892 [A/G] NM_001039375,NR_029377,NM_024120 NDUFAF5,NDUFAF5,NDUFAF5 EXON Missense_A60T,Silent,Missense_A60T exm1525984 20 13765895 [T/C] NM_001039375,NR_029377,NM_024120 NDUFAF5,NDUFAF5,NDUFAF5 EXON Missense_R61W,Silent,Missense_R61W exm1525987 20 13765904 [A/G] NM_001039375,NR_029377,NM_024120 NDUFAF5,NDUFAF5,NDUFAF5 EXON Missense_E64K,Silent,Missense_E64K exm1525998 20 13769298 [C/G] NM_001039375,NR_029377,NM_024120 NDUFAF5,NDUFAF5,NDUFAF5 EXON Missense_K109N,Silent,Missense_K109N exm1526003 20 13775557 [A/G] NM_001039375,NR_029377,NM_024120 NDUFAF5,NDUFAF5,NDUFAF5 EXON Silent,Silent,Missense_N150S exm1526019 20 13782224 [A/G] NM_001039375,NR_029377,NM_024120 NDUFAF5,NDUFAF5,NDUFAF5 EXON Synonymous_A176A,Silent,Synonymous_A204A exm2254156 20 13782224 [A/G] NM_001039375,NR_029377,NM_024120 NDUFAF5,NDUFAF5,NDUFAF5 EXON Synonymous_A176A,Silent,Synonymous_A204A exm1526020 20 13782229 [T/C] NM_001039375,NR_029377,NM_024120 NDUFAF5,NDUFAF5,NDUFAF5 EXON Missense_T178M,Silent,Missense_T206M exm1959357 20 13782279 [A/C] NM_001039375,NR_029377,NM_024120 NDUFAF5,NDUFAF5,NDUFAF5 EXON Missense_N195H,Silent,Missense_N223H exm1526033 20 13797156 [T/C] NM_001039375,NR_029377,NM_024120 NDUFAF5,NDUFAF5,NDUFAF5 EXON Nonsense_R248X,Silent,Nonsense_R276X exm1526056 20 13830243 [A/G] NR_073207,NR_073206,NM_001271539 SEL1L2,SEL1L2,SEL1L2 EXON Silent,Silent,Missense_T539M exm1526061 20 13830883 [T/A] NR_073207,NR_073206,NM_001271539 SEL1L2,SEL1L2,SEL1L2 EXON Silent,Silent,Missense_M521K exm1959373 20 13839925 [T/C] NR_073207,NR_073206,NM_001271539 SEL1L2,SEL1L2,SEL1L2 EXON Silent,Silent,Silent exm1526069 20 13839963 [A/G] NR_073207,NR_073206,NM_001271539 SEL1L2,SEL1L2,SEL1L2 EXON Silent,Silent,Silent exm1526070 20 13840045 [A/G] NR_073207,NR_073206,NM_001271539 SEL1L2,SEL1L2,SEL1L2 EXON Silent,Silent,Silent exm1526071 20 13845828 [A/G] NR_073207,NR_073206,NM_001271539 SEL1L2,SEL1L2,SEL1L2 EXON Silent,Silent,Synonymous_I488I exm1526074 20 13845845 [A/G] NR_073207,NR_073206,NM_001271539 SEL1L2,SEL1L2,SEL1L2 EXON Silent,Silent,Missense_R483C exm1526080 20 13846084 [T/C] NR_073207,NR_073206,NM_001271539 SEL1L2,SEL1L2,SEL1L2 EXON Silent,Silent,Silent exm1526082 20 13846148 [T/C] NR_073207,NR_073206,NM_001271539 SEL1L2,SEL1L2,SEL1L2 EXON Silent,Silent,Silent exm1526092 20 13850169 [T/G] NR_073207,NR_073206,NM_001271539 SEL1L2,SEL1L2,SEL1L2 EXON Silent,Silent,Missense_Q412P exm1526096 20 13850792 [A/G] NR_073207,NR_073206,NM_001271539 SEL1L2,SEL1L2,SEL1L2 EXON Silent,Silent,Missense_P388S exm1526101 20 13856737 [T/C] NR_073207,NR_073206,NM_001271539 SEL1L2,SEL1L2,SEL1L2 EXON Silent,Silent,Missense_V351M exm1959391 20 13866024 [A/G] NR_073207,NR_073206,NM_001271539 SEL1L2,SEL1L2,SEL1L2 EXON Silent,Silent,Missense_I309T exm1959396 20 13866968 [T/G] NR_073207,NR_073206,NM_001271539 SEL1L2,SEL1L2,SEL1L2 EXON Silent,Silent,Missense_K289T exm1526126 20 13869131 [T/C] NR_073207,NR_073206,NM_001271539 SEL1L2,SEL1L2,SEL1L2 EXON Silent,Silent,Missense_I193V exm1526130 20 13894428 [A/G] NR_073207,NR_073206,NM_001271539 SEL1L2,SEL1L2,SEL1L2 EXON Silent,Silent,Synonymous_N183N exm1526133 20 13899681 [A/T] NR_073207,NR_073206,NM_001271539 SEL1L2,SEL1L2,SEL1L2 EXON Silent,Silent,Missense_Q124H exm1526136 20 13912309 [A/G] NR_073207,NR_073206,NM_001271539 SEL1L2,SEL1L2,SEL1L2 EXON Silent,Silent,Missense_R75C exm1526145 20 13971152 [A/C] NR_073207,NR_073206,NM_001271539 SEL1L2,SEL1L2,SEL1L2 EXON Silent,Silent,Missense_I10R exm1526146 20 13971169 [A/C] NR_073207,NR_073206,NM_001271539 SEL1L2,SEL1L2,SEL1L2 EXON Silent,Silent,Missense_L4F exm2268275 20 14031392 [A/G] NM_080676 MACROD2 Silent exm1526162 20 14066276 [T/C] NM_080676 MACROD2 EXON Missense_T58I exm1526164 20 14066373 [T/C] NM_080676 MACROD2 EXON Synonymous_A90A exm1526173 20 14306361 [A/G] NM_080676,NM_198391,NM_013281 MACROD2,FLRT3,FLRT3 EXON Silent,Missense_P598S,Missense_P598S exm1526183 20 14306771 [T/C] NM_080676,NM_198391,NM_013281 MACROD2,FLRT3,FLRT3 EXON Silent,Missense_R461H,Missense_R461H exm1526184 20 14306773 [T/G] NM_080676,NM_198391,NM_013281 MACROD2,FLRT3,FLRT3 EXON Silent,Missense_E460D,Missense_E460D exm1526192 20 14306953 [T/G] NM_080676,NM_198391,NM_013281 MACROD2,FLRT3,FLRT3 EXON Silent,Missense_H400Q,Missense_H400Q exm1526194 20 14307005 [C/G] NM_080676,NM_198391,NM_013281 MACROD2,FLRT3,FLRT3 EXON Silent,Missense_A383G,Missense_A383G exm1526195 20 14307012 [A/G] NM_080676,NM_198391,NM_013281 MACROD2,FLRT3,FLRT3 EXON Silent,Missense_W381R,Missense_W381R exm1526196 20 14307019 [T/G] NM_080676,NM_198391,NM_013281 MACROD2,FLRT3,FLRT3 EXON Silent,Missense_Q378H,Missense_Q378H exm1526197 20 14307024 [T/C] NM_080676,NM_198391,NM_013281 MACROD2,FLRT3,FLRT3 EXON Silent,Missense_A377T,Missense_A377T exm1526202 20 14307203 [T/C] NM_080676,NM_198391,NM_013281 MACROD2,FLRT3,FLRT3 EXON Silent,Missense_R317H,Missense_R317H exm1526209 20 14307332 [T/C] NM_080676,NM_198391,NM_013281 MACROD2,FLRT3,FLRT3 EXON Silent,Missense_Y274C,Missense_Y274C exm-rs6079395 20 14327899 [A/G] NM_080676 MACROD2 Silent exm-rs6110278 20 14388215 [T/C] NM_080676 MACROD2 Silent exm2264698 20 14530220 [A/C] NM_080676 MACROD2 Silent exm2272920 20 14620991 [T/C] NM_080676 MACROD2 Silent exm1526227 20 14665545 [G/C] NM_080676 MACROD2 EXON Missense_L120V exm1526229 20 14665605 [T/C] NM_080676 MACROD2 EXON Missense_Y140H exm-rs4141463 20 14747471 [T/C] NM_080676 MACROD2 Silent exm2254159 20 14901776 [A/G] NM_080676,NR_037841,NR_072988 MACROD2,MACROD2-AS1,MACROD2-AS1 Silent,Silent,Silent exm2275136 20 15210624 [A/G] NM_080676,NM_001033087 MACROD2,MACROD2 EXON Missense_I153V,Silent exm-rs6110577 20 15335754 [T/C] NM_080676,NM_001033087 MACROD2,MACROD2 Silent,Silent exm2268327 20 15554753 [A/G] NM_080676,NM_001033087 MACROD2,MACROD2 Silent,Silent exm-rs200752 20 15599531 [A/G] NM_080676,NM_001033087 MACROD2,MACROD2 Silent,Silent exm1959527 20 15948230 [A/G] NM_080676,NM_001033087 MACROD2,MACROD2 EXON Missense_G314S,Missense_G79S exm1526266 20 15967383 [T/G] NM_080676,NM_001033087 MACROD2,MACROD2 EXON Missense_D333Y,Missense_D98Y exm1526268 20 15967446 [A/G] NM_080676,NM_001033087 MACROD2,MACROD2 EXON Missense_E354K,Missense_E119K exm1526270 20 15967719 [T/C] NM_080676,NM_001033087 MACROD2,MACROD2 EXON Missense_S357P,Missense_S122P exm1959531 20 15967737 [A/G] NM_080676,NM_001033087 MACROD2,MACROD2 EXON Missense_V363M,Missense_V128M exm1526274 20 15967795 [A/G] NM_080676,NM_001033087 MACROD2,MACROD2 EXON Missense_G382D,Missense_G147D exm2254165 20 15973949 [T/C] NM_080676,NM_001033087 MACROD2,MACROD2 Silent,Silent exm1526275 20 16021855 [T/A] NM_080676,NM_001033087 MACROD2,MACROD2 EXON Missense_E388V,Missense_E153V exm1526278 20 16025242 [A/G] NM_080676,NM_001033087 MACROD2,MACROD2 EXON Silent,Missense_V185I exm1526281 20 16025279 [T/A] NM_080676,NM_001033087 MACROD2,MACROD2 EXON Silent,Missense_L197Q exm1526301 20 16293011 [T/C] NM_024704,NM_001199865 KIF16B,KIF16B EXON Missense_R1255H,Missense_R1204H exm-rs2208059 20 16311310 [T/C] NM_024704,NM_001199865 KIF16B,KIF16B Silent,Silent exm1526308 20 16337046 [T/C] NM_024704,NM_001199865 KIF16B,KIF16B EXON Missense_I1184V,Missense_I1133V exm1526315 20 16347868 [T/C] NM_024704,NM_001199865,NM_001199866 KIF16B,KIF16B,KIF16B EXON Silent,Silent,Missense_A1368T exm1526327 20 16348123 [A/G] NM_024704,NM_001199865,NM_001199866 KIF16B,KIF16B,KIF16B EXON Silent,Silent,Missense_F1283L exm2234108 20 16348298 [A/C] NM_024704,NM_001199865,NM_001199866 KIF16B,KIF16B,KIF16B EXON Silent,Silent,Missense_L1224F exm1526341 20 16348362 [A/G] NM_024704,NM_001199865,NM_001199866 KIF16B,KIF16B,KIF16B EXON Silent,Silent,Missense_T1203I exm1526352 20 16352344 [T/C] NM_024704,NM_001199865,NM_001199866 KIF16B,KIF16B,KIF16B EXON Missense_S1138N,Missense_S1087N,Missense_S1138N exm1526355 20 16352401 [T/C] NM_024704,NM_001199865,NM_001199866 KIF16B,KIF16B,KIF16B EXON Missense_N1119S,Missense_N1068S,Missense_N1119S exm1526356 20 16354901 [A/C] NM_024704,NM_001199865,NM_001199866 KIF16B,KIF16B,KIF16B Silent,Silent,Silent exm1526359 20 16354949 [A/C] NM_024704,NM_001199865,NM_001199866 KIF16B,KIF16B,KIF16B EXON Missense_L1101F,Silent,Missense_L1101F exm1526363 20 16359472 [T/C] NM_024704,NM_001199865,NM_001199866 KIF16B,KIF16B,KIF16B EXON Missense_A1059T,Missense_A1059T,Missense_A1059T exm1526364 20 16359549 [G/C] NM_024704,NM_001199865,NM_001199866 KIF16B,KIF16B,KIF16B EXON Missense_R1033T,Missense_R1033T,Missense_R1033T exm1526367 20 16359567 [A/G] NM_024704,NM_001199865,NM_001199866 KIF16B,KIF16B,KIF16B EXON Missense_M1027T,Missense_M1027T,Missense_M1027T exm1526369 20 16359582 [T/C] NM_024704,NM_001199865,NM_001199866 KIF16B,KIF16B,KIF16B EXON Missense_H1022R,Missense_H1022R,Missense_H1022R exm1526372 20 16359627 [T/C] NM_024704,NM_001199865,NM_001199866 KIF16B,KIF16B,KIF16B EXON Missense_R1007Q,Missense_R1007Q,Missense_R1007Q exm1526379 20 16359919 [A/G] NM_024704,NM_001199865,NM_001199866 KIF16B,KIF16B,KIF16B EXON Nonsense_Q910X,Nonsense_Q910X,Nonsense_Q910X exm2276699 20 16360029 [C/G] NM_024704,NM_001199865,NM_001199866 KIF16B,KIF16B,KIF16B EXON Missense_R873T,Missense_R873T,Missense_R873T exm1526384 20 16360069 [T/C] NM_024704,NM_001199865,NM_001199866 KIF16B,KIF16B,KIF16B EXON Missense_I860V,Missense_I860V,Missense_I860V exm1526385 20 16360083 [T/C] NM_024704,NM_001199865,NM_001199866 KIF16B,KIF16B,KIF16B EXON Missense_Q855R,Missense_Q855R,Missense_Q855R exm1526388 20 16360177 [T/G] NM_024704,NM_001199865,NM_001199866 KIF16B,KIF16B,KIF16B EXON Missense_R824S,Missense_R824S,Missense_R824S exm1526390 20 16360201 [T/C] NM_024704,NM_001199865,NM_001199866 KIF16B,KIF16B,KIF16B EXON Missense_E816K,Missense_E816K,Missense_E816K exm1526392 20 16360219 [T/C] NM_024704,NM_001199865,NM_001199866 KIF16B,KIF16B,KIF16B EXON Missense_G810R,Missense_G810R,Missense_G810R exm1526395 20 16360240 [A/G] NM_024704,NM_001199865,NM_001199866 KIF16B,KIF16B,KIF16B EXON Missense_R803W,Missense_R803W,Missense_R803W exm1526401 20 16360309 [A/G] NM_024704,NM_001199865,NM_001199866 KIF16B,KIF16B,KIF16B EXON Missense_R780W,Missense_R780W,Missense_R780W exm1526404 20 16360410 [T/A] NM_024704,NM_001199865,NM_001199866 KIF16B,KIF16B,KIF16B EXON Missense_L746Q,Missense_L746Q,Missense_L746Q exm1526406 20 16360435 [A/C] NM_024704,NM_001199865,NM_001199866 KIF16B,KIF16B,KIF16B EXON Missense_D738Y,Missense_D738Y,Missense_D738Y exm1526409 20 16360515 [T/C] NM_024704,NM_001199865,NM_001199866 KIF16B,KIF16B,KIF16B EXON Missense_R711Q,Missense_R711Q,Missense_R711Q exm1959599 20 16360516 [A/G] NM_024704,NM_001199865,NM_001199866 KIF16B,KIF16B,KIF16B EXON Nonsense_R711X,Nonsense_R711X,Nonsense_R711X exm1526416 20 16360654 [T/C] NM_024704,NM_001199865,NM_001199866 KIF16B,KIF16B,KIF16B EXON Missense_I665V,Missense_I665V,Missense_I665V exm1526417 20 16360668 [T/C] NM_024704,NM_001199865,NM_001199866 KIF16B,KIF16B,KIF16B EXON Missense_R660H,Missense_R660H,Missense_R660H exm1959600 20 16360735 [T/C] NM_024704,NM_001199865,NM_001199866 KIF16B,KIF16B,KIF16B EXON Missense_E638K,Missense_E638K,Missense_E638K exm1526425 20 16362370 [A/G] NM_024704,NM_001199865,NM_001199866 KIF16B,KIF16B,KIF16B EXON Missense_R603C,Missense_R603C,Missense_R603C exm1526430 20 16385494 [T/C] NM_024704,NM_001199865,NM_001199866 KIF16B,KIF16B,KIF16B EXON Missense_R583H,Missense_R583H,Missense_R583H exm1526443 20 16409630 [T/C] NM_024704,NM_001199865,NM_001199866 KIF16B,KIF16B,KIF16B EXON Missense_G481D,Missense_G481D,Missense_G481D exm1526457 20 16485063 [T/C] NM_024704,NM_001199865,NM_001199866 KIF16B,KIF16B,KIF16B EXON Missense_R377Q,Missense_R377Q,Missense_R377Q exm1526458 20 16485153 [T/C] NM_024704,NM_001199865,NM_001199866 KIF16B,KIF16B,KIF16B EXON Missense_S347N,Missense_S347N,Missense_S347N exm1526482 20 16492132 [A/G] NM_024704,NM_001199865,NM_001199866 KIF16B,KIF16B,KIF16B EXON Missense_R163W,Missense_R163W,Missense_R163W exm1526486 20 16493520 [T/C] NM_024704,NM_001199865,NM_001199866 KIF16B,KIF16B,KIF16B EXON Missense_I133V,Missense_I133V,Missense_I133V exm1526496 20 16496299 [A/G] NM_024704,NM_001199865,NM_001199866 KIF16B,KIF16B,KIF16B EXON Missense_T81I,Missense_T81I,Missense_T81I exm1959646 20 16506769 [T/C] NM_024704,NM_001199865,NM_001199866 KIF16B,KIF16B,KIF16B EXON Missense_T67A,Missense_T67A,Missense_T67A exm1526504 20 16553877 [T/C] NM_024704,NM_001199865,NM_001199866 KIF16B,KIF16B,KIF16B EXON Missense_R15H,Missense_R15H,Missense_R15H exm2260908 20 16629423 [A/G] exm1526537 20 16721491 [A/G] NM_003092,NM_198220 SNRPB2,SNRPB2 EXON Synonymous_Q173Q,Synonymous_Q173Q exm1526544 20 16729048 [T/C] NM_020157 OTOR EXON Missense_M1T exm1526546 20 16729104 [A/G] NM_020157 OTOR EXON Missense_G20R exm1526549 20 16729138 [T/C] NM_020157 OTOR EXON Missense_L31P exm-rs852069 20 17122593 [A/G] exm2272880 20 17178434 [T/C] exm1526577 20 17208002 [T/G] NM_001201528,NM_002594,NM_001201529 PCSK2,PCSK2,PCSK2 EXON Silent,Missense_C18G,Missense_C18G exm1526582 20 17208089 [A/C] NM_001201528,NM_002594,NM_001201529 PCSK2,PCSK2,PCSK2 EXON Missense_R28S,Missense_R47S,Missense_R47S exm1526588 20 17240937 [A/C] NM_001201528,NM_002594,NM_001201529 PCSK2,PCSK2,PCSK2 EXON Missense_A58D,Missense_A77D,Silent exm-rs6044777 20 17368542 [T/C] NM_001201528,NM_002594,NM_001201529 PCSK2,PCSK2,PCSK2 Silent,Silent,Silent exm1526603 20 17410120 [A/G] NM_001201528,NM_002594,NM_001201529 PCSK2,PCSK2,PCSK2 EXON Missense_N202D,Missense_N221D,Missense_N186D exm-rs2269010 20 17415418 [T/C] NM_001201528,NM_002594,NM_001201529 PCSK2,PCSK2,PCSK2 Silent,Silent,Silent exm1526634 20 17446056 [T/C] NM_001201528,NM_002594,NM_001201529 PCSK2,PCSK2,PCSK2 EXON Missense_R411W,Missense_R430W,Missense_R395W exm2272881 20 17456843 [T/C] NM_001201528,NM_002594,NM_001201529 PCSK2,PCSK2,PCSK2 Silent,Silent,Silent exm1526645 20 17462371 [A/G] NM_001201528,NM_002594,NM_001201529 PCSK2,PCSK2,PCSK2 EXON Missense_M506V,Missense_M525V,Missense_M490V exm2234114 20 17462504 [T/C] NM_001201528,NM_002594,NM_001201529 PCSK2,PCSK2,PCSK2 EXON Missense_T550I,Missense_T569I,Missense_T534I exm1526665 20 17474749 [T/G] NM_001161705,NM_001195 BFSP1,BFSP1 EXON Missense_D531E,Missense_D656E exm1959705 20 17474778 [C/G] NM_001161705,NM_001195 BFSP1,BFSP1 EXON Missense_E522Q,Missense_E647Q exm1526671 20 17474942 [A/G] NM_001161705,NM_001195 BFSP1,BFSP1 EXON Missense_A467V,Missense_A592V exm1526684 20 17475207 [T/C] NM_001161705,NM_001195 BFSP1,BFSP1 EXON Missense_V379M,Missense_V504M exm1526698 20 17475523 [A/C] NM_001161705,NM_001195 BFSP1,BFSP1 EXON Missense_K273N,Missense_K398N exm1526701 20 17475569 [T/C] NM_001161705,NM_001195 BFSP1,BFSP1 EXON Missense_N258S,Missense_N383S exm1526704 20 17475592 [A/C] NM_001161705,NM_001195 BFSP1,BFSP1 EXON Missense_E250D,Missense_E375D exm1526706 20 17477592 [T/C] NM_001161705,NM_001195 BFSP1,BFSP1 EXON Missense_G220S,Missense_G345S exm1526717 20 17479551 [T/G] NM_001161705,NM_001195 BFSP1,BFSP1 EXON Nonsense_Y165X,Nonsense_Y290X exm1526720 20 17479609 [A/G] NM_001161705,NM_001195 BFSP1,BFSP1 EXON Missense_I146T,Missense_I271T exm1526724 20 17479685 [T/C] NM_001161705,NM_001195 BFSP1,BFSP1 EXON Missense_T121A,Missense_T246A exm1526749 20 17505513 [T/C] NM_001161705,NM_001195 BFSP1,BFSP1 EXON Missense_M15V,Missense_M140V exm1526750 20 17505528 [A/G] NM_001161705,NM_001195 BFSP1,BFSP1 EXON Missense_L10F,Missense_L135F exm1526752 20 17505537 [T/C] NM_001161705,NM_001195 BFSP1,BFSP1 EXON Missense_E7K,Missense_E132K exm1526787 20 17595399 [T/C] NM_001042576,NM_004587 RRBP1,RRBP1 EXON Missense_E960K,Missense_E960K exm1526788 20 17595423 [T/C] NM_001042576,NM_004587 RRBP1,RRBP1 EXON Missense_K952E,Missense_K952E exm1526793 20 17595470 [T/C] NM_001042576,NM_004587 RRBP1,RRBP1 EXON Missense_R936K,Missense_R936K exm1526799 20 17596129 [A/G] NM_001042576,NM_004587 RRBP1,RRBP1 EXON Missense_R900C,Missense_R900C exm1526802 20 17596155 [A/C] NM_001042576,NM_004587 RRBP1,RRBP1 EXON Missense_R891L,Missense_R891L exm1526803 20 17596164 [A/G] NM_001042576,NM_004587 RRBP1,RRBP1 EXON Missense_S888L,Missense_S888L exm1526821 20 17597382 [T/C] NM_001042576,NM_004587 RRBP1,RRBP1 EXON Missense_V855I,Missense_V855I exm1526842 20 17600295 [T/C] NM_001042576,NM_004587 RRBP1,RRBP1 EXON Missense_A787T,Missense_A787T exm1526852 20 17600357 [A/G] NM_001042576,NM_004587 RRBP1,RRBP1 EXON Missense_S766L,Missense_S766L exm1526853 20 17600367 [T/C] NM_001042576,NM_004587 RRBP1,RRBP1 EXON Missense_E763K,Missense_E763K exm1526857 20 17600984 [A/G] NM_001042576,NM_004587 RRBP1,RRBP1 EXON Missense_I747T,Missense_I747T exm1526859 20 17601011 [T/C] NM_001042576,NM_004587 RRBP1,RRBP1 EXON Missense_R738Q,Missense_R738Q exm1526864 20 17602103 [T/C] NM_001042576,NM_004587 RRBP1,RRBP1 EXON Synonymous_T705T,Synonymous_T705T exm1526866 20 17602158 [A/G] NM_001042576,NM_004587 RRBP1,RRBP1 EXON Missense_T687M,Missense_T687M exm1526871 20 17602335 [T/C] NM_001042576,NM_004587 RRBP1,RRBP1 EXON Synonymous_S675S,Synonymous_S675S exm1526874 20 17602348 [A/G] NM_001042576,NM_004587 RRBP1,RRBP1 EXON Missense_A671V,Missense_A671V exm1526876 20 17602364 [A/G] NM_001042576,NM_004587 RRBP1,RRBP1 EXON Missense_H666Y,Missense_H666Y exm1526878 20 17602409 [T/C] NM_001042576,NM_004587 RRBP1,RRBP1 EXON Missense_E651K,Missense_E651K exm1526882 20 17602571 [A/G] NM_001042576,NM_004587 RRBP1,RRBP1 EXON Missense_C624R,Missense_C624R exm2260909 20 17603728 [A/G] NM_001042576,NM_004587 RRBP1,RRBP1 Silent,Silent exm1526888 20 17605271 [T/C] NM_001042576,NM_004587 RRBP1,RRBP1 EXON Missense_T600A,Missense_T600A exm1959779 20 17606158 [T/C] NM_001042576,NM_004587 RRBP1,RRBP1 EXON Missense_N585S,Missense_N585S exm1526893 20 17606183 [T/C] NM_001042576,NM_004587 RRBP1,RRBP1 EXON Missense_V577I,Missense_V577I exm1526894 20 17606189 [T/C] NM_001042576,NM_004587 RRBP1,RRBP1 EXON Missense_E575K,Missense_E575K exm1526897 20 17607994 [A/G] NM_001042576,NM_004587 RRBP1,RRBP1 EXON Missense_R555C,Missense_R555C exm1959787 20 17608245 [A/C] NM_001042576,NM_004587 RRBP1,RRBP1 EXON Missense_Q511H,Missense_Q511H exm1526918 20 17608288 [T/C] NM_001042576,NM_004587 RRBP1,RRBP1 EXON Missense_R497H,Missense_R497H exm1526920 20 17610468 [T/C] NM_001042576,NM_004587 RRBP1,RRBP1 EXON Missense_E484K,Missense_E484K exm1526925 20 17610512 [T/C] NM_001042576,NM_004587 RRBP1,RRBP1 EXON Missense_R469Q,Missense_R469Q exm1526938 20 17614179 [A/G] NM_001042576,NM_004587 RRBP1,RRBP1 EXON Missense_R413W,Missense_R413W exm1526950 20 17617287 [T/C] NM_001042576,NM_004587 RRBP1,RRBP1 EXON Missense_V325M,Missense_V325M exm1526957 20 17622471 [T/C] NM_001042576,NM_004587 RRBP1,RRBP1 EXON Missense_A286T,Missense_A286T exm1526960 20 17622479 [A/G] NM_001042576,NM_004587 RRBP1,RRBP1 EXON Missense_A283V,Missense_A283V exm1526961 20 17622495 [T/C] NM_001042576,NM_004587 RRBP1,RRBP1 EXON Missense_T278A,Missense_T278A exm1526970 20 17623695 [T/C] NM_001042576,NM_004587 RRBP1,RRBP1 EXON Missense_E231K,Missense_E231K exm1526972 20 17623721 [A/G] NM_001042576,NM_004587 RRBP1,RRBP1 EXON Missense_S222F,Missense_S222F exm1526977 20 17623770 [A/G] NM_001042576,NM_004587 RRBP1,RRBP1 EXON Missense_P206S,Missense_P206S exm1527006 20 17640659 [A/G] NM_001042576,NM_004587 RRBP1,RRBP1 EXON Missense_S165L,Missense_S165L exm1527013 20 17640801 [T/C] NM_001042576,NM_004587 RRBP1,RRBP1 EXON Missense_V118I,Missense_V118I exm1527019 20 17640898 [T/A] NM_001042576,NM_004587 RRBP1,RRBP1 EXON Missense_D85E,Missense_D85E exm1527026 20 17674344 [A/G] NM_001159495 BANF2 EXON Missense_G4E exm1527033 20 17705677 [A/G] NM_001159495,NM_001014977,NM_178477 BANF2,BANF2,BANF2 EXON Missense_N10D,Missense_N3D,Missense_N3D exm1527052 20 17923822 [A/G] NM_014426,NM_152227 SNX5,SNX5 EXON Missense_R366W,Missense_R366W exm1959831 20 17929611 [G/C] NM_014426,NM_152227 SNX5,SNX5 EXON Missense_G281R,Missense_G281R exm1527074 20 17930836 [T/C] NM_014426,NM_152227 SNX5,SNX5 EXON Missense_Y244C,Missense_Y244C exm1527086 20 17933320 [T/A] NM_014426,NM_152227 SNX5,SNX5 EXON Missense_S142T,Missense_S142T exm1527093 20 17936022 [T/C] NM_014426,NM_152227 SNX5,SNX5 EXON Missense_Y85C,Missense_Y85C exm1527097 20 17936106 [A/G] NM_014426,NM_152227 SNX5,SNX5 EXON Missense_T57M,Missense_T57M exm1527099 20 17937604 [C/G] NM_014426,NM_152227 SNX5,SNX5 EXON Missense_D43E,Missense_D43E exm1527118 20 17950545 [T/A] NM_052865 MGME1 EXON Missense_S15C exm1527119 20 17950588 [G/C] NM_052865 MGME1 EXON Missense_S29C exm2234117 20 17950667 [A/C] NM_052865 MGME1 EXON Missense_L55F exm1527122 20 17950744 [C/G] NM_052865 MGME1 EXON Missense_P81R exm2234118 20 17950785 [C/G] NM_052865 MGME1 EXON Missense_R95G exm1527133 20 17956347 [T/C] NM_052865 MGME1 EXON Missense_R178W exm1527136 20 17956474 [A/G] NM_052865 MGME1 EXON Missense_R220Q exm1527140 20 17968871 [T/C] NM_052865 MGME1 EXON Missense_T265I exm1527150 20 17970618 [A/G] NM_052865 MGME1 EXON Missense_G301R exm1527193 20 18037313 [A/T] NM_021220 OVOL2 EXON Missense_R103S exm2260910 20 18045793 [T/C] exm-rs17725255 20 18079131 [T/C] exm2268279 20 18113486 [A/G] exm2234121 20 18122894 [T/C] NM_001164811,NM_020536 PET117,CSRP2BP EXON Missense_R47W,Silent exm1527212 20 18122912 [C/G] NM_001164811,NM_020536 PET117,CSRP2BP EXON Missense_R53G,Silent exm1527239 20 18139832 [A/G] NM_020536,NR_028402 CSRP2BP,CSRP2BP EXON Nonsense_W202X,Silent exm1527240 20 18139859 [T/C] NM_020536,NR_028402 CSRP2BP,CSRP2BP EXON Missense_T211M,Silent exm1527244 20 18142462 [A/G] NM_020536,NR_028402 CSRP2BP,CSRP2BP Silent,Silent exm1527250 20 18142583 [A/G] NM_020536,NR_028402 CSRP2BP,CSRP2BP EXON Missense_A268T,Silent exm1527263 20 18143045 [T/G] NM_020536,NR_028402 CSRP2BP,CSRP2BP EXON Missense_G376V,Silent exm1527269 20 18143117 [T/G] NM_020536,NR_028402 CSRP2BP,CSRP2BP EXON Missense_V400G,Silent exm1527280 20 18143315 [A/G] NM_020536,NR_028402 CSRP2BP,CSRP2BP EXON Missense_Y466C,Silent exm1527285 20 18143417 [T/C] NM_020536,NR_028402 CSRP2BP,CSRP2BP EXON Missense_A500V,Silent exm1959907 20 18143537 [A/G] NM_020536,NR_028402 CSRP2BP,CSRP2BP EXON Missense_Q540R,Silent exm1527291 20 18143551 [A/T] NM_020536,NR_028402 CSRP2BP,CSRP2BP EXON Missense_T545S,Silent exm1527296 20 18162405 [T/A] NM_020536,NR_028402 CSRP2BP,CSRP2BP EXON Missense_Y575N,Silent exm1527301 20 18162445 [G/C] NM_020536,NR_028402 CSRP2BP,CSRP2BP EXON Missense_S588T,Silent exm1527302 20 18162466 [T/C] NM_020536,NR_028402 CSRP2BP,CSRP2BP EXON Missense_S595F,Silent exm1527303 20 18162481 [G/C] NM_020536,NR_028402 CSRP2BP,CSRP2BP EXON Missense_P600R,Silent exm1527309 20 18163853 [T/C] NM_020536,NR_028402 CSRP2BP,CSRP2BP EXON Missense_P632L,Silent exm2254171 20 18163863 [T/C] NM_020536,NR_028402 CSRP2BP,CSRP2BP EXON Synonymous_D635D,Silent exm2272882 20 18239970 [T/C] exm1527343 20 18295730 [T/C] NM_001083330,NM_003434 ZNF133,ZNF133 EXON Missense_L78F,Missense_L78F exm1527347 20 18295755 [T/C] NM_001083330,NM_003434 ZNF133,ZNF133 EXON Missense_P86L,Missense_P86L exm1527351 20 18295869 [A/G] NM_001083330,NM_003434 ZNF133,ZNF133 EXON Missense_G124E,Missense_G124E exm1527354 20 18295952 [T/C] NM_001083330,NM_003434 ZNF133,ZNF133 EXON Missense_P152S,Missense_P152S exm1527357 20 18295980 [T/C] NM_001083330,NM_003434 ZNF133,ZNF133 EXON Missense_T161I,Missense_T161I exm1527362 20 18296072 [A/T] NM_001083330,NM_003434 ZNF133,ZNF133 EXON Missense_S192T,Missense_S192T exm1527364 20 18296076 [A/G] NM_001083330,NM_003434 ZNF133,ZNF133 EXON Missense_G193E,Missense_G193E exm1527370 20 18296250 [A/G] NM_001083330,NM_003434 ZNF133,ZNF133 EXON Missense_S251N,Missense_S251N exm2254172 20 18296473 [T/C] NM_001083330,NM_003434 ZNF133,ZNF133 EXON Synonymous_Y325Y,Synonymous_Y325Y exm1527408 20 18296991 [T/G] NM_001083330,NM_003434 ZNF133,ZNF133 EXON Missense_C498F,Missense_C498F exm1527419 20 18297324 [T/C] NM_001083330,NM_003434 ZNF133,ZNF133 EXON Missense_T609M,Missense_T609M exm2234125 20 18365673 [T/C] NM_001099407 DZANK1 EXON Missense_A694T exm1527446 20 18374907 [A/G] NM_001099407 DZANK1 EXON Missense_S567P exm1959960 20 18377116 [T/C] NM_001099407 DZANK1 EXON Synonymous_K537K exm1527453 20 18377169 [T/C] NM_001099407 DZANK1 EXON Missense_E520K exm1527454 20 18377187 [T/G] NM_001099407 DZANK1 EXON Missense_I514L exm1527459 20 18379222 [T/A] NM_001099407 DZANK1 EXON Missense_Y494F exm1527477 20 18395092 [T/C] NM_001099407 DZANK1 EXON Missense_R381Q exm1527481 20 18395153 [T/C] NM_001099407 DZANK1 EXON Missense_G361S exm1527483 20 18395988 [T/C] NM_001099407 DZANK1 EXON Missense_G354S exm1959974 20 18395999 [A/G] NM_001099407 DZANK1 EXON Missense_A350V exm1527486 20 18396005 [T/C] NM_001099407 DZANK1 EXON Nonsense_W348X exm1527487 20 18396017 [T/C] NM_001099407 DZANK1 EXON Missense_R344H exm2276700 20 18396047 [A/C] NM_001099407 DZANK1 EXON Missense_G334V exm1527494 20 18414309 [T/C] NM_001099407 DZANK1 EXON Missense_S283N exm1527504 20 18424032 [G/C] NM_001099407 DZANK1 EXON Missense_P236A exm1527506 20 18424040 [A/G] NM_001099407 DZANK1 EXON Missense_P233L exm1527511 20 18429695 [A/C] NM_001099407 DZANK1 EXON Missense_V188L exm1527533 20 18440884 [T/C] NM_001099407 DZANK1 EXON Missense_G59D exm1527535 20 18440889 [A/T] NM_001099407 DZANK1 EXON Missense_R57S exm1527551 20 18455717 [A/G] NM_006466 POLR3F Silent exm1527565 20 18462413 [T/C] NM_006466 POLR3F EXON Missense_P278S exm1527567 20 18462431 [T/C] NM_006466 POLR3F EXON Missense_R284W exm1527580 20 18470410 [A/T] NM_006606 RBBP9 EXON Missense_X187K exm1527587 20 18470530 [C/G] NM_006606 RBBP9 EXON Missense_Q147E exm2234129 20 18470608 [T/C] NM_006606 RBBP9 EXON Missense_E121K exm1527599 20 18471068 [T/G] NM_006606 RBBP9 EXON Missense_D102A exm1527617 20 18477792 [A/G] NM_006606 RBBP9 EXON Missense_A7V exm1527623 20 18491519 [T/C] NM_032985,NM_006363,NM_032986,NM_001172746,NM_001172745 SEC23B,SEC23B,SEC23B,SEC23B,SEC23B EXON Missense_R14W,Missense_R14W,Missense_R14W,Missense_R14W,Missense_R14W exm1527625 20 18491553 [A/C] NM_032985,NM_006363,NM_032986,NM_001172746,NM_001172745 SEC23B,SEC23B,SEC23B,SEC23B,SEC23B EXON Missense_P25H,Missense_P25H,Missense_P25H,Missense_P25H,Missense_P25H exm1527635 20 18491621 [T/C] NM_032985,NM_006363,NM_032986,NM_001172746,NM_001172745 SEC23B,SEC23B,SEC23B,SEC23B,SEC23B EXON Missense_R48C,Missense_R48C,Missense_R48C,Missense_R48C,Missense_R48C exm1527637 20 18491675 [T/C] NM_032985,NM_006363,NM_032986,NM_001172746,NM_001172745 SEC23B,SEC23B,SEC23B,SEC23B,SEC23B EXON Missense_C66R,Missense_C66R,Missense_C66R,Missense_C66R,Missense_C66R exm1527639 20 18491700 [A/G] NM_032985,NM_006363,NM_032986,NM_001172746,NM_001172745 SEC23B,SEC23B,SEC23B,SEC23B,SEC23B EXON Missense_C74Y,Missense_C74Y,Missense_C74Y,Missense_C74Y,Missense_C74Y exm1527646 20 18496339 [A/G] NM_032985,NM_006363,NM_032986,NM_001172746,NM_001172745 SEC23B,SEC23B,SEC23B,SEC23B,SEC23B EXON Missense_E109K,Missense_E109K,Missense_E109K,Missense_E109K,Missense_E109K exm1527657 20 18505279 [A/G] NM_032985,NM_006363,NM_032986,NM_001172746,NM_001172745 SEC23B,SEC23B,SEC23B,SEC23B,SEC23B EXON Missense_R190Q,Missense_R190Q,Missense_R190Q,Missense_R172Q,Missense_R190Q exm1527659 20 18505615 [T/C] NM_032985,NM_006363,NM_032986,NM_001172746,NM_001172745 SEC23B,SEC23B,SEC23B,SEC23B,SEC23B EXON Nonsense_Q214X,Nonsense_Q214X,Nonsense_Q214X,Nonsense_Q196X,Nonsense_Q214X exm1527668 20 18506533 [A/G] NM_032985,NM_006363,NM_032986,NM_001172746,NM_001172745 SEC23B,SEC23B,SEC23B,SEC23B,SEC23B EXON Missense_R264Q,Missense_R264Q,Missense_R264Q,Missense_R246Q,Missense_R264Q exm1527696 20 18511358 [A/T] NM_032985,NM_006363,NM_032986,NM_001172746,NM_001172745 SEC23B,SEC23B,SEC23B,SEC23B,SEC23B EXON Missense_S382T,Missense_S382T,Missense_S382T,Missense_S364T,Missense_S382T exm1527697 20 18511412 [T/C] NM_032985,NM_006363,NM_032986,NM_001172746,NM_001172745 SEC23B,SEC23B,SEC23B,SEC23B,SEC23B EXON Missense_F400L,Missense_F400L,Missense_F400L,Missense_F382L,Missense_F400L exm1960049 20 18511446 [A/G] NM_032985,NM_006363,NM_032986,NM_001172746,NM_001172745 SEC23B,SEC23B,SEC23B,SEC23B,SEC23B EXON Missense_K411R,Missense_K411R,Missense_K411R,Missense_K393R,Missense_K411R exm1527704 20 18513350 [A/G] NM_032985,NM_006363,NM_032986,NM_001172746,NM_001172745 SEC23B,SEC23B,SEC23B,SEC23B,SEC23B EXON Missense_V426I,Missense_V426I,Missense_V426I,Missense_V408I,Missense_V426I exm1527705 20 18513372 [T/C] NM_032985,NM_006363,NM_032986,NM_001172746,NM_001172745 SEC23B,SEC23B,SEC23B,SEC23B,SEC23B EXON Missense_P433L,Missense_P433L,Missense_P433L,Missense_P415L,Missense_P433L exm1527715 20 18523002 [C/G] NM_032985,NM_006363,NM_032986,NM_001172746,NM_001172745 SEC23B,SEC23B,SEC23B,SEC23B,SEC23B EXON Missense_H489Q,Missense_H489Q,Missense_H489Q,Missense_H471Q,Missense_H489Q exm1527716 20 18523019 [A/G] NM_032985,NM_006363,NM_032986,NM_001172746,NM_001172745 SEC23B,SEC23B,SEC23B,SEC23B,SEC23B EXON Missense_R495H,Missense_R495H,Missense_R495H,Missense_R477H,Missense_R495H exm1527736 20 18529262 [T/C] NM_032985,NM_006363,NM_032986,NM_001172746,NM_001172745 SEC23B,SEC23B,SEC23B,SEC23B,SEC23B EXON Missense_H585Y,Missense_H585Y,Missense_H585Y,Missense_H567Y,Missense_H585Y exm1960067 20 18535008 [A/G] NM_032985,NM_006363,NM_032986,NM_001172746,NM_001172745 SEC23B,SEC23B,SEC23B,SEC23B,SEC23B EXON Missense_I708V,Missense_I708V,Missense_I708V,Missense_I690V,Missense_I708V exm1527769 20 18576652 [T/C] NM_080820 DTD1 EXON Missense_V46A exm1527774 20 18576801 [A/G] NM_080820 DTD1 EXON Missense_A96T exm1960072 20 18576820 [G/C] NM_080820 DTD1 EXON Missense_A102G exm1527777 20 18576829 [T/C] NM_080820 DTD1 EXON Missense_F105S exm1527781 20 18576855 [T/C] NM_080820 DTD1 EXON Missense_R114C exm1527798 20 18794463 [A/T] NM_001242671,NM_178483 C20orf78,SCP2D1 EXON Silent,Missense_W2R exm1527804 20 18794628 [A/G] NM_001242671,NM_178483 C20orf78,SCP2D1 EXON Silent,Missense_E57K exm1527808 20 18794754 [T/C] NM_001242671,NM_178483 C20orf78,SCP2D1 EXON Silent,Missense_P99S exm1527814 20 18794820 [A/G] NM_001242671,NM_178483 C20orf78,SCP2D1 EXON Silent,Missense_G121S exm2264699 20 18968197 [A/C] exm1527825 20 19261606 [T/C] NM_020689,NR_024564 SLC24A3,LOC100130264 EXON Missense_L49P,Silent exm1527826 20 19261623 [A/G] NM_020689,NR_024564 SLC24A3,LOC100130264 EXON Missense_V55I,Silent exm1527828 20 19261696 [T/C] NM_020689,NR_024564 SLC24A3,LOC100130264 EXON Missense_A79V,Silent exm2268330 20 19291116 [A/G] NM_020689 SLC24A3 Silent exm1527834 20 19496138 [T/A] NM_020689 SLC24A3 EXON Missense_H93L exm1527847 20 19565693 [A/G] NM_020689 SLC24A3 EXON Missense_V168I exm-rs3790268 20 19571581 [C/G] NM_020689 SLC24A3 Silent exm2254178 20 19598493 [T/C] NM_020689 SLC24A3 Silent exm1527865 20 19654276 [G/C] NM_020689 SLC24A3 EXON Missense_L249V exm1527871 20 19662509 [A/G] NM_020689 SLC24A3 EXON Missense_A259T exm1527873 20 19662551 [A/G] NM_020689 SLC24A3 EXON Missense_G273R exm1527874 20 19662560 [A/G] NM_020689 SLC24A3 EXON Missense_V276I exm1527895 20 19665822 [A/G] NM_020689 SLC24A3 EXON Missense_V381M exm1527901 20 19665877 [A/G] NM_020689 SLC24A3 EXON Missense_R399Q exm1527917-other 20 19679324 [T/C] NM_020689 SLC24A3 EXON Synonymous_Y573Y exm1527917 20 19679324 [T/C] NM_020689 SLC24A3 EXON Synonymous_Y573Y exm2268331 20 19808654 [A/G] exm2268280 20 19820785 [A/G] exm-rs6046396 20 19852503 [A/G] exm-IND20-19815342 20 19867343 [I/D] NM_001242581 RIN2 EXON exm1527943 20 19915770 [A/G] NM_001242581,NM_018993 RIN2,RIN2 EXON Missense_G78R,Missense_G29R exm1527954 20 19937312 [A/G] NM_001242581,NM_018993 RIN2,RIN2 EXON Missense_C120Y,Missense_C71Y exm1527958 20 19937376 [A/C] NM_001242581,NM_018993 RIN2,RIN2 EXON Missense_H141Q,Missense_H92Q exm1527959 20 19937447 [T/C] NM_001242581,NM_018993 RIN2,RIN2 EXON Missense_P165L,Missense_P116L exm1527961 20 19941357 [A/G] NM_001242581,NM_018993 RIN2,RIN2 EXON Missense_H171R,Missense_H122R exm1527964 20 19941396 [A/G] NM_001242581,NM_018993 RIN2,RIN2 EXON Missense_R184H,Missense_R135H exm1527965 20 19941419 [T/C] NM_001242581,NM_018993 RIN2,RIN2 EXON Missense_P192S,Missense_P143S exm1527971 20 19951534 [A/T] NM_001242581,NM_018993 RIN2,RIN2 EXON Missense_S246T,Missense_S197T exm1527972 20 19951549 [A/G] NM_001242581,NM_018993 RIN2,RIN2 EXON Missense_E251K,Missense_E202K exm1527978 20 19955466 [A/T] NM_001242581,NM_018993 RIN2,RIN2 EXON Missense_N315I,Missense_N266I exm1527993 20 19955673 [G/C] NM_001242581,NM_018993 RIN2,RIN2 EXON Missense_P384R,Missense_P335R exm1527998 20 19955714 [T/C] NM_001242581,NM_018993 RIN2,RIN2 EXON Missense_P398S,Missense_P349S exm1528023 20 19956311 [A/G] NM_001242581,NM_018993 RIN2,RIN2 EXON Missense_V597M,Missense_V548M exm2254180 20 19970705 [T/C] NM_001242581,NM_018993 RIN2,RIN2 EXON Synonymous_H655H,Synonymous_H606H exm1528038 20 19970853 [A/G] NM_001242581,NM_018993 RIN2,RIN2 EXON Missense_V705I,Missense_V656I exm1528059 20 19981410 [A/G] NM_001242581,NM_018993 RIN2,RIN2 EXON Missense_V889I,Missense_V840I exm1528082 20 20006368 [T/C] NM_016100,NM_181528,NM_181527 NAA20,NAA20,NAA20 EXON Synonymous_Y42Y,Synonymous_Y42Y,Synonymous_Y30Y exm2254181 20 20006368 [T/C] NM_016100,NM_181528,NM_181527 NAA20,NAA20,NAA20 EXON Synonymous_Y42Y,Synonymous_Y42Y,Synonymous_Y30Y exm1528093 20 20016856 [T/C] NM_016652 CRNKL1 EXON Missense_D844N exm1528104 20 20017979 [C/G] NM_016652 CRNKL1 EXON Missense_Q789H exm1960220 20 20018088 [A/G] NM_016652 CRNKL1 EXON Missense_M753T exm1528115 20 20020302 [T/C] NM_016652 CRNKL1 EXON Missense_R660Q exm1528117 20 20020427 [G/C] NM_016652 CRNKL1 EXON Missense_Q618H exm1528150 20 20028426 [T/C] NM_016652 CRNKL1 EXON Missense_R363H exm1528163 20 20029984 [T/C] NM_016652 CRNKL1 EXON Missense_R260K exm1528166 20 20030063 [T/C] NM_016652 CRNKL1 EXON Missense_N234D exm1528173 20 20032934 [A/G] NM_016652 CRNKL1 Silent exm1528175 20 20032998 [T/C] NM_016652 CRNKL1 EXON Missense_T158A exm1528177 20 20033018 [C/G] NM_016652 CRNKL1 EXON Missense_G151A exm1528188 20 20033112 [T/G] NM_016652 CRNKL1 EXON Missense_Q120K exm1528197 20 20033172 [A/G] NM_016652,NM_015585 CRNKL1,C20orf26 EXON Missense_H100Y,Silent exm1528200 20 20033198 [T/C] NM_016652,NM_015585 CRNKL1,C20orf26 EXON Missense_C91Y,Silent exm1528203 20 20033223 [A/T] NM_016652,NM_015585 CRNKL1,C20orf26 EXON Missense_S83T,Silent exm1528212 20 20033322 [A/G] NM_016652,NM_015585 CRNKL1,C20orf26 EXON Nonsense_Q50X,Silent exm1528215 20 20033367 [G/C] NM_016652,NM_015585 CRNKL1,C20orf26 EXON Missense_G35R,Silent exm1528222 20 20037320 [A/G] NM_015585,NM_001167816 C20orf26,C20orf26 EXON Missense_R8K,Missense_R8K exm1528226 20 20037416 [A/G] NM_015585,NM_001167816 C20orf26,C20orf26 EXON Missense_G40E,Missense_G40E exm1528228 20 20037422 [T/C] NM_015585,NM_001167816 C20orf26,C20orf26 EXON Missense_L42P,Missense_L42P exm1528246 20 20055833 [A/C] NM_015585,NM_001167816 C20orf26,C20orf26 EXON Synonymous_R124R,Synonymous_R124R exm1528248 20 20055867 [A/G] NM_015585,NM_001167816 C20orf26,C20orf26 EXON Missense_I136V,Missense_I136V exm1528261 20 20071521 [A/T] NM_015585,NM_001167816 C20orf26,C20orf26 EXON Missense_F200L,Missense_F200L exm1960270 20 20071529 [A/G] NM_015585,NM_001167816 C20orf26,C20orf26 EXON Missense_Y203C,Missense_Y203C exm1528263 20 20071546 [A/G] NM_015585,NM_001167816 C20orf26,C20orf26 EXON Missense_E209K,Missense_E209K exm1528267 20 20071563 [A/C] NM_015585,NM_001167816 C20orf26,C20orf26 EXON Nonsense_Y214X,Nonsense_Y214X exm1528268 20 20071585 [A/G] NM_015585,NM_001167816 C20orf26,C20orf26 EXON Missense_A222T,Missense_A222T exm1528273 20 20079360 [A/G] NM_015585,NM_001167816 C20orf26,C20orf26 EXON Missense_H254R,Missense_H254R exm1528277 20 20079389 [A/G] NM_015585,NM_001167816 C20orf26,C20orf26 EXON Missense_G264R,Missense_G264R exm1528280 20 20079416 [A/G] NM_015585,NM_001167816 C20orf26,C20orf26 EXON Missense_V273I,Missense_V273I exm1528282 20 20079447 [A/G] NM_015585,NM_001167816 C20orf26,C20orf26 EXON Missense_R283Q,Missense_R283Q exm1528285 20 20123587 [A/G] NM_015585,NM_001167816 C20orf26,C20orf26 EXON Missense_I316V,Missense_I316V exm1528287 20 20140084 [T/C] NM_015585,NM_001167816 C20orf26,C20orf26 EXON Missense_P341L,Missense_P341L exm1528290 20 20144772 [A/G] NM_015585,NM_001167816 C20orf26,C20orf26 EXON Missense_V369I,Missense_V369I exm1528292 20 20144813 [C/G] NM_015585,NM_001167816 C20orf26,C20orf26 EXON Missense_R382S,Missense_R382S exm1528300 20 20150019 [A/G] NM_015585,NM_001167816 C20orf26,C20orf26 EXON Missense_I434V,Missense_I434V exm1528307 20 20168615 [A/G] NM_015585 C20orf26 EXON Missense_G476D exm1528309 20 20168675 [A/G] NM_015585 C20orf26 EXON Missense_R496H exm1528316 20 20177280 [A/G] NM_015585 C20orf26 EXON Missense_E553K exm1528318 20 20177289 [A/G] NM_015585 C20orf26 EXON Missense_G556R exm1528325 20 20180422 [G/C] NM_015585 C20orf26 EXON Missense_P603R exm1528333 20 20208971 [A/G] NM_015585 C20orf26 EXON Missense_V671I exm1528336 20 20208984 [A/G] NM_015585 C20orf26 EXON Missense_S675N exm1528341 20 20226772 [A/G] NM_015585 C20orf26 EXON Missense_K691R exm1528343 20 20226857 [A/C] NM_015585 C20orf26 EXON Missense_S719R exm1528374 20 20257962 [T/G] NM_015585 C20orf26 EXON Missense_V886L exm1528387 20 20269334 [T/C] NM_015585 C20orf26 EXON Nonsense_R960X exm1528390 20 20269367 [A/G] NM_015585 C20orf26 EXON Missense_D971N exm2234141 20 20269440 [C/G] NM_015585 C20orf26 EXON Missense_S995T exm1528397 20 20269545 [A/G] NM_015585 C20orf26 EXON Missense_R1030Q exm1528398 20 20269572 [A/C] NM_015585 C20orf26 EXON Missense_K1039T exm1528402 20 20270952 [A/C] NM_015585 C20orf26 EXON Missense_L1045I exm1528408 20 20278843 [A/G] NM_015585 C20orf26 EXON Missense_G1079S exm1528410 20 20278850 [G/C] NM_015585 C20orf26 EXON Missense_A1081G exm1528412 20 20278877 [A/G] NM_015585 C20orf26 EXON Missense_H1090R exm1528413 20 20278936 [A/G] NM_015585 C20orf26 EXON Missense_A1110T exm1960326 20 20278951 [T/C] NM_015585 C20orf26 EXON Missense_R1115C exm1528421 20 20322489 [T/C] NM_015585 C20orf26 EXON Missense_P1146L exm1528422 20 20322543 [A/G] NM_015585 C20orf26 EXON Missense_R1164H exm1528423 20 20340855 [A/G] NM_015585 C20orf26 EXON Missense_E1172G exm1528426 20 20340872 [A/G] NM_015585 C20orf26 EXON Missense_I1178V exm1528435 20 20341040 [A/C] NM_015585 C20orf26 EXON Missense_P1234T exm1528437 20 20341049 [A/G] NM_015585 C20orf26 EXON Missense_V1237I exm1528450 20 20349555 [T/G] NM_002196 INSM1 EXON Missense_V215G exm1528455 20 20349813 [G/C] NM_002196 INSM1 EXON Missense_A301G exm1528467 20 20350279 [T/G] NM_002196 INSM1 EXON Missense_Q456H exm1528499 20 20453542 [T/C] NM_020343 RALGAPA2 EXON Missense_S1809N exm1528505 20 20475858 [T/C] NM_020343 RALGAPA2 EXON Missense_R1757H exm1528511 20 20484032 [T/C] NM_020343 RALGAPA2 EXON Missense_R1724Q exm1528521 20 20486079 [C/G] NM_020343 RALGAPA2 EXON Missense_D1676E exm1528532 20 20493514 [T/C] NM_020343 RALGAPA2 EXON Missense_H1500R exm1528533 20 20493550 [T/C] NM_020343 RALGAPA2 EXON Missense_N1488S exm1528535 20 20493673 [A/G] NM_020343 RALGAPA2 EXON Missense_P1447L exm1528540 20 20493838 [T/C] NM_020343 RALGAPA2 EXON Missense_S1392N exm1528545 20 20501575 [A/C] NM_020343 RALGAPA2 EXON Missense_L1357R exm1528546 20 20501576 [T/G] NM_020343 RALGAPA2 EXON Missense_L1357M exm1528549 20 20501647 [A/G] NM_020343 RALGAPA2 EXON Missense_F1333S exm1528550 20 20501675 [T/C] NM_020343 RALGAPA2 EXON Missense_D1324N exm1528557 20 20505136 [T/C] NM_020343 RALGAPA2 EXON Missense_V1272M exm1528564 20 20506955 [A/C] NM_020343 RALGAPA2 EXON Missense_V1212F exm1528570 20 20512378 [C/G] NM_020343 RALGAPA2 EXON Missense_H1179D exm1528583 20 20527380 [T/C] NM_020343 RALGAPA2 EXON Missense_A1085T exm2234144 20 20552251 [T/C] NM_020343 RALGAPA2 EXON Missense_T1003A exm1528606 20 20553578 [T/G] NM_020343 RALGAPA2 EXON Missense_P948T exm1528611 20 20553659 [T/C] NM_020343 RALGAPA2 EXON Missense_T921A exm1528614 20 20553683 [T/C] NM_020343 RALGAPA2 EXON Missense_S913G exm1528626 20 20563861 [T/G] NM_020343 RALGAPA2 EXON Missense_T847N exm1528627 20 20565555 [T/G] NM_020343 RALGAPA2 EXON Missense_K828N exm1528628 20 20569997 [T/C] NM_020343 RALGAPA2 EXON Missense_E785G exm1528630 20 20571844 [A/G] NM_020343 RALGAPA2 EXON Missense_P773L exm1528636 20 20571940 [T/A] NM_020343 RALGAPA2 EXON Missense_Q741L exm1528643 20 20585828 [A/G] NM_020343 RALGAPA2 EXON Nonsense_R677X exm1528648 20 20585894 [T/C] NM_020343 RALGAPA2 EXON Missense_V655I exm1528654 20 20586043 [A/G] NM_020343 RALGAPA2 EXON Missense_A605V exm1528655 20 20591968 [T/G] NM_020343 RALGAPA2 EXON Missense_L597F exm1528665 20 20596825 [A/G] NM_020343 RALGAPA2 EXON Missense_T517M exm1528669 20 20599985 [T/C] NM_020343 RALGAPA2 EXON Missense_S492N exm1528675 20 20610063 [A/G] NM_020343 RALGAPA2 EXON Missense_R393W exm1528679 20 20610111 [A/G] NM_020343 RALGAPA2 EXON Missense_L377F exm1528695 20 20620492 [A/C] NM_020343 RALGAPA2 EXON Missense_E201D exm1528700 20 20620529 [T/C] NM_020343 RALGAPA2 EXON Missense_E189G exm1528703 20 20621461 [A/G] NM_020343 RALGAPA2 EXON Missense_A145V exm1528707 20 20634177 [T/C] NM_020343 RALGAPA2 EXON Missense_I109V exm2254184 20 20817745 [A/G] exm2268332 20 20848968 [A/G] exm1528721 20 21117104 [T/C] NM_001163023,NM_001163022,NM_018474,NM_001276389 PLK1S1,PLK1S1,PLK1S1,PLK1S1 EXON Silent,Silent,Nonsense_R76X,Silent exm1528726 20 21126209 [A/G] NM_001163023,NM_001163022,NM_018474,NM_001276389 PLK1S1,PLK1S1,PLK1S1,PLK1S1 EXON Silent,Missense_E4K,Missense_E107K,Missense_E58K exm1528729 20 21142523 [C/G] NM_001163023,NM_001163022,NM_018474,NM_001276389 PLK1S1,PLK1S1,PLK1S1,PLK1S1 EXON Missense_H6Q,Missense_H36Q,Missense_H139Q,Missense_H90Q exm1528731 20 21142611 [A/G] NM_001163023,NM_001163022,NM_018474,NM_001276389 PLK1S1,PLK1S1,PLK1S1,PLK1S1 EXON Missense_S36G,Missense_S66G,Missense_S169G,Missense_S120G exm1528732 20 21142615 [T/G] NM_001163023,NM_001163022,NM_018474,NM_001276389 PLK1S1,PLK1S1,PLK1S1,PLK1S1 EXON Missense_M37R,Missense_M67R,Missense_M170R,Missense_M121R exm1528734 20 21142651 [A/C] NM_001163023,NM_001163022,NM_018474,NM_001276389 PLK1S1,PLK1S1,PLK1S1,PLK1S1 EXON Missense_P49H,Missense_P79H,Missense_P182H,Missense_P133H exm1528740 20 21142804 [A/G] NM_001163023,NM_001163022,NM_018474,NM_001276389 PLK1S1,PLK1S1,PLK1S1,PLK1S1 EXON Missense_G100D,Missense_G130D,Missense_G233D,Missense_G184D exm1528741 20 21142813 [T/C] NM_001163023,NM_001163022,NM_018474,NM_001276389 PLK1S1,PLK1S1,PLK1S1,PLK1S1 EXON Missense_M103T,Missense_M133T,Missense_M236T,Missense_M187T exm1528748 20 21143020 [A/C] NM_001163023,NM_001163022,NM_018474,NM_001276389 PLK1S1,PLK1S1,PLK1S1,PLK1S1 EXON Missense_T172K,Missense_T202K,Missense_T305K,Missense_T256K exm1528749 20 21143023 [A/G] NM_001163023,NM_001163022,NM_018474,NM_001276389 PLK1S1,PLK1S1,PLK1S1,PLK1S1 EXON Missense_R173Q,Missense_R203Q,Missense_R306Q,Missense_R257Q exm1528751 20 21143035 [T/A] NM_001163023,NM_001163022,NM_018474,NM_001276389 PLK1S1,PLK1S1,PLK1S1,PLK1S1 EXON Missense_E177V,Missense_E207V,Missense_E310V,Missense_E261V exm1528755 20 21143130 [C/G] NM_001163023,NM_001163022,NM_018474,NM_001276389 PLK1S1,PLK1S1,PLK1S1,PLK1S1 EXON Missense_P209A,Missense_P239A,Missense_P342A,Missense_P293A exm1528765 20 21143779 [C/G] NM_001163023,NM_001163022,NM_018474,NM_001276389 PLK1S1,PLK1S1,PLK1S1,PLK1S1 EXON Missense_S311C,Missense_S341C,Missense_S444C,Missense_S395C exm1528774 20 21195214 [T/C] NM_001163023,NM_001163022,NM_018474,NM_001276389 PLK1S1,PLK1S1,PLK1S1,PLK1S1 EXON Missense_A363V,Missense_A393V,Missense_A496V,Missense_A447V exm1528782 20 21209715 [A/G] NM_001163023,NM_001163022,NM_018474,NM_001276389 PLK1S1,PLK1S1,PLK1S1,PLK1S1 EXON Missense_G449S,Missense_G479S,Missense_G582S,Missense_G533S exm1528786 20 21213397 [T/C] NM_001163023,NM_001163022,NM_018474,NM_001276389 PLK1S1,PLK1S1,PLK1S1,PLK1S1 EXON Missense_S470L,Missense_S500L,Missense_S603L,Missense_S554L exm2272885 20 21218023 [T/C] NM_001163023,NM_001163022,NM_018474,NM_001276389 PLK1S1,PLK1S1,PLK1S1,PLK1S1 Silent,Silent,Silent,Silent exm1528827 20 21313044 [T/A] NM_012255 XRN2 EXON Missense_D275V exm1528836 20 21314414 [A/G] NM_012255 XRN2 EXON Missense_V336I exm1528840 20 21314744 [A/G] NM_012255 XRN2 EXON Missense_N385S exm1528841 20 21314763 [G/C] NM_012255 XRN2 EXON Missense_M391I exm1528851 20 21321443 [A/G] NM_012255 XRN2 EXON Missense_S455G exm1528852 20 21321450 [T/C] NM_012255 XRN2 EXON Missense_P457L exm1528857 20 21327089 [T/G] NM_012255 XRN2 EXON Missense_K522N exm1960520 20 21327108 [A/G] NM_012255 XRN2 EXON Missense_A529T exm1960521 20 21327129 [T/C] NM_012255 XRN2 EXON Missense_R536W exm1528861 20 21327163 [C/G] NM_012255 XRN2 EXON Missense_C547S exm1528873 20 21329068 [T/A] NM_012255 XRN2 EXON Synonymous_P621P exm1528875 20 21330066 [A/G] NM_012255 XRN2 EXON Missense_I635V exm1528888 20 21337303 [A/G] NM_012255 XRN2 EXON Missense_Q733R exm1528895 20 21346294 [A/G] NM_012255 XRN2 EXON Missense_R803H exm1528899 20 21349138 [A/G] NM_012255 XRN2 EXON Missense_S832G exm1528962 20 21492733 [A/G] NM_002509 NKX2-2 EXON Missense_A217V exm1528969 20 21493018 [C/G] NM_002509 NKX2-2 EXON Missense_G122A exm1528976 20 21494049 [A/G] NM_002509 NKX2-2 EXON Synonymous_L87L exm1528984 20 21494184 [T/C] NM_002509 NKX2-2 EXON Missense_A42T exm1528985 20 21494187 [A/G] NM_002509 NKX2-2 EXON Missense_P41S exm1960561 20 21494200 [T/G] NM_002509 NKX2-2 EXON Missense_N36K exm1528987 20 21494213 [A/G] NM_002509 NKX2-2 EXON Missense_P32L exm1529006 20 21687460 [A/G] NM_001257096,NM_006192 PAX1,PAX1 EXON Missense_K224R,Missense_K224R exm1529008 20 21687474 [T/G] NM_001257096,NM_006192 PAX1,PAX1 EXON Missense_A229S,Missense_A229S exm1529015 20 21689216 [A/G] NM_001257096,NM_006192 PAX1,PAX1 EXON Missense_G313S,Missense_G313S exm1529048 20 21695356 [T/C] NM_001257096,NM_006192 PAX1,PAX1 EXON Silent,Missense_P507L exm2260915 20 21741526 [T/C] exm-rs2180439 20 21853100 [T/C] exm2264700 20 21938530 [A/C] exm-rs1160312 20 22050503 [A/G] NR_038394 LOC100270679 Silent exm2260916 20 22403287 [T/C] exm2268282 20 22484805 [A/G] exm-rs6113722 20 22557099 [A/G] NR_001558 LINC00261 Silent exm1529058 20 22562543 [C/G] NM_021784,NM_153675 FOXA2,FOXA2 EXON Missense_A446G,Missense_A440G exm1529061 20 22562607 [T/G] NM_021784,NM_153675 FOXA2,FOXA2 EXON Missense_P425T,Missense_P419T exm2254190 20 22562674 [T/C] NM_021784,NM_153675 FOXA2,FOXA2 EXON Synonymous_Q402Q,Synonymous_Q396Q exm1529087 20 22563455 [A/G] NM_021784,NM_153675 FOXA2,FOXA2 EXON Missense_M142T,Missense_M136T exm1529094 20 22563501 [T/C] NM_021784,NM_153675 FOXA2,FOXA2 EXON Missense_M127V,Missense_M121V exm1529146 20 23016706 [A/G] NM_001052 SSTR4 EXON Missense_V196M exm1529150 20 23016757 [T/G] NM_001052 SSTR4 EXON Missense_V213F exm1529158 20 23016850 [T/C] NM_001052 SSTR4 EXON Missense_R244C exm1529160 20 23016854 [A/C] NM_001052 SSTR4 EXON Missense_A245D exm1960636 20 23016931 [T/G] NM_001052 SSTR4 EXON Missense_C271G exm1529173 20 23017082 [T/C] NM_001052 SSTR4 EXON Missense_F321S exm1529189 20 23028631 [T/G] NM_000361 THBD EXON Missense_T504N exm1529190 20 23028638 [C/G] NM_000361 THBD EXON Missense_G502R exm1529191 20 23028640 [A/G] NM_000361 THBD EXON Missense_P501L exm1529192 20 23028659 [A/G] NM_000361 THBD EXON Missense_P495S exm1529196 20 23028686 [A/C] NM_000361 THBD EXON Missense_D486Y exm1529198 20 23028724 [A/G] NM_000361 THBD EXON Missense_A473V exm1529200 20 23028934 [T/C] NM_000361 THBD EXON Missense_R403K exm1529204 20 23029040 [A/G] NM_000361 THBD EXON Missense_P368S exm1529234 20 23030015 [T/C] NM_000361 THBD EXON Missense_A43T exm1529239 20 23030102 [T/C] NM_000361 THBD EXON Missense_G14S exm1529245 20 23064609 [G/C] NM_012072 CD93 EXON Missense_P646R exm1529249 20 23064909 [A/C] NM_012072 CD93 EXON Nonsense_E641X exm1529250 20 23064912 [T/C] NM_012072 CD93 EXON Missense_M640V exm1529257 20 23064998 [C/G] NM_012072 CD93 EXON Missense_A611G exm1529261 20 23065110 [T/C] NM_012072 CD93 EXON Missense_D574N exm1529262 20 23065122 [T/C] NM_012072 CD93 EXON Missense_T570A exm1529264 20 23065158 [A/G] NM_012072 CD93 EXON Missense_P558S exm1529267 20 23065203 [T/C] NM_012072 CD93 EXON Missense_V543I exm1529268 20 23065209 [A/G] NM_012072 CD93 EXON Missense_P541S exm1529272 20 23065271 [A/G] NM_012072 CD93 EXON Missense_S520L exm1529281 20 23065352 [A/G] NM_012072 CD93 EXON Missense_T493I exm1529290 20 23065529 [A/G] NM_012072 CD93 EXON Missense_P434L exm1529293 20 23065548 [A/C] NM_012072 CD93 EXON Missense_V428L exm1529298 20 23065584 [T/C] NM_012072 CD93 EXON Missense_V416I exm1529302 20 23065689 [T/C] NM_012072 CD93 EXON Missense_G381R exm1529304 20 23065733 [T/C] NM_012072 CD93 EXON Missense_R366H exm1529313 20 23065844 [T/C] NM_012072 CD93 EXON Missense_R329H exm1529314 20 23065845 [A/G] NM_012072 CD93 EXON Missense_R329C exm1960658 20 23065893 [G/C] NM_012072 CD93 EXON Missense_G313R exm1960660 20 23065997 [G/C] NM_012072 CD93 EXON Missense_G278A exm1529329 20 23065998 [T/C] NM_012072 CD93 EXON Missense_G278R exm1529355 20 23066596 [G/C] NM_012072 CD93 EXON Missense_Q78H exm2268333 20 23251415 [A/G] exm1529370 20 23334796 [A/G] NM_013248 NXT1 EXON Missense_M40V exm1529388 20 23345243 [T/A] NM_022482 GZF1 EXON Missense_T75S exm1529394 20 23345511 [A/G] NM_022482 GZF1 EXON Missense_R164K exm1529399 20 23345589 [A/G] NM_022482 GZF1 EXON Missense_N190S exm1529401 20 23345624 [A/G] NM_022482 GZF1 EXON Missense_K202E exm1529403 20 23345727 [G/C] NM_022482 GZF1 EXON Missense_P236R exm1529407 20 23345844 [A/C] NM_022482 GZF1 EXON Missense_Q275P exm1529408 20 23345871 [T/C] NM_022482 GZF1 EXON Missense_A284V exm1529410 20 23345909 [T/C] NM_022482 GZF1 EXON Missense_P297S exm1529416 20 23346080 [A/G] NM_022482 GZF1 EXON Missense_G354S exm1529422 20 23346213 [T/A] NM_022482 GZF1 EXON Missense_Q398L exm1529427 20 23346326 [A/G] NM_022482 GZF1 EXON Missense_G436S exm1529436 20 23350290 [A/G] NM_022482 GZF1 EXON Missense_R566H exm1529450 20 23350941 [A/G] NM_022482 GZF1 EXON Missense_D667N exm1529474 20 23375624 [T/C] NM_022080 NAPB EXON Missense_I119V exm1529483 20 23377717 [T/G] NM_022080 NAPB EXON Missense_D96A exm1529491 20 23401975 [T/C] NM_022080 NAPB EXON Missense_K22R exm1529513 20 23421059 [A/G] NM_138283 CSTL1 EXON Missense_Y52C exm1529516 20 23421079 [A/G] NM_138283 CSTL1 EXON Missense_T59A exm1529517 20 23421089 [A/T] NM_138283 CSTL1 EXON Missense_Y62F exm1529518 20 23421101 [A/G] NM_138283 CSTL1 EXON Missense_R66K exm1529523 20 23424578 [T/C] NM_138283 CSTL1 EXON Missense_T76M exm1529527 20 23424608 [T/C] NM_138283 CSTL1 EXON Missense_I86T exm1529529 20 23424613 [T/C] NM_138283 CSTL1 EXON Missense_W88R exm1529531 20 23424638 [T/C] NM_138283 CSTL1 EXON Missense_T96M exm1529535 20 23424683 [T/C] NM_138283 CSTL1 Silent exm1529539 20 23425447 [A/G] NM_138283 CSTL1 EXON Missense_I124V exm1529542 20 23425489 [G/C] NM_138283 CSTL1 EXON Missense_E138Q exm1529551 20 23432457 [A/T] NM_130794,NM_080830 CST11,CST11 EXON Missense_H110L,Silent exm1529553 20 23432479 [T/C] NM_130794,NM_080830 CST11,CST11 EXON Missense_V103I,Silent exm1960759 20 23432541 [T/G] NM_130794,NM_080830 CST11,CST11 EXON Missense_E82A,Silent exm1960767 20 23433244 [A/G] NM_130794,NM_080830 CST11,CST11 EXON Nonsense_R69X,Nonsense_R69X exm1529568 20 23433349 [T/C] NM_130794,NM_080830 CST11,CST11 EXON Missense_V34I,Missense_V34I exm1529571 20 23433441 [C/G] NM_130794,NM_080830 CST11,CST11 EXON Missense_A3G,Missense_A3G exm1529574 20 23472317 [T/C] NM_005492 CST8 EXON Missense_R5W exm1529579 20 23472390 [T/C] NM_005492 CST8 EXON Missense_T29I exm1529585 20 23472459 [T/C] NM_005492 CST8 EXON Missense_A52V exm1529591 20 23473615 [A/C] NM_005492 CST8 EXON Nonsense_Y84X exm1529592 20 23473635 [T/C] NM_005492 CST8 EXON Missense_A91V exm1529593 20 23473637 [T/C] NM_005492 CST8 EXON Missense_R92C exm1529595 20 23473642 [A/C] NM_005492 CST8 EXON Missense_S93R exm1529596 20 23473643 [A/G] NM_005492 CST8 EXON Missense_D94N exm1529603 20 23473691 [A/G] NM_005492 CST8 EXON Missense_N110D exm1529606 20 23476480 [A/C] NM_005492 CST8 EXON Missense_S120R exm2272886 20 23532718 [T/C] exm1529617 20 23545658 [A/C] NM_080610 CST9L EXON Missense_F124C exm1529619 20 23546626 [T/G] NM_080610 CST9L EXON Missense_S113R exm1529621 20 23546639 [T/G] NM_080610 CST9L EXON Missense_H109P exm1529628 20 23546709 [T/C] NM_080610 CST9L EXON Missense_V86I exm1529632 20 23548903 [A/C] NM_080610 CST9L EXON Missense_S62I exm1529633 20 23548918 [A/G] NM_080610 CST9L EXON Missense_T57I exm1529634 20 23548919 [T/C] NM_080610 CST9L EXON Missense_T57A exm1529637 20 23548948 [A/G] NM_080610 CST9L EXON Missense_L47P exm1529639 20 23548992 [T/G] NM_080610 CST9L EXON Missense_H32Q exm-rs1158167 20 23578189 [A/G] exm1529654 20 23584259 [T/C] NM_001008693 CST9 EXON Missense_N123S exm1529658 20 23584332 [A/G] NM_001008693 CST9 EXON Missense_R99C exm1960801 20 23584368 [A/G] NM_001008693 CST9 EXON Nonsense_R87X exm1529661 20 23586257 [A/C] NM_001008693 CST9 EXON Missense_M82R exm1529664 20 23586288 [A/G] NM_001008693 CST9 EXON Missense_R72C exm1529670 20 23586329 [T/A] NM_001008693 CST9 EXON Missense_F58Y exm1529671 20 23586360 [A/G] NM_001008693 CST9 EXON Missense_L48F exm1529672 20 23586366 [T/C] NM_001008693 CST9 EXON Missense_M46V exm2254194 20 23586490 [T/C] NM_001008693 CST9 EXON Synonymous_P4P exm1529681 20 23586497 [A/G] NM_001008693 CST9 EXON Missense_S2L exm-rs911119 20 23612737 [T/C] exm1529686 20 23614570 [T/C] NM_000099 CST3 EXON Missense_T142A exm1529696 20 23615910 [T/G] NM_000099 CST3 EXON Missense_D113A exm1529740 20 23669407 [A/G] NM_001899 CST4 EXON Missense_P67L exm1529753 20 23669488 [T/C] NM_001899 CST4 EXON Missense_N40S exm1529755 20 23669545 [A/G] NM_001899 CST4 EXON Missense_S21L exm1529756 20 23669557 [T/C] NM_001899 CST4 EXON Missense_G17E exm1529757 20 23669584 [A/T] NM_001899 CST4 EXON Missense_L8Q exm1529789 20 23731406 [T/C] NM_001898 CST1 EXON Missense_G33D exm1529790 20 23731412 [A/G] NM_001898 CST1 EXON Missense_P31L exm1529794 20 23731438 [T/G] NM_001898 CST1 EXON Missense_S22R exm1529801 20 23731494 [A/G] NM_001898 CST1 EXON Missense_Y4H exm1529807 20 23804662 [T/C] NM_001322 CST2 EXON Missense_A141T exm1529826 20 23805918 [A/G] NM_001322 CST2 EXON Nonsense_R91X exm1529827 20 23805930 [T/C] NM_001322 CST2 EXON Missense_I87V exm1529830 20 23805953 [T/C] NM_001322 CST2 EXON Missense_G79D exm1529839 20 23807093 [A/G] NM_001322 CST2 EXON Missense_R69W exm1529840 20 23807102 [A/G] NM_001322 CST2 EXON Missense_R66C exm1529844 20 23807141 [T/G] NM_001322 CST2 EXON Missense_S53R exm1529845 20 23807148 [T/A] NM_001322 CST2 EXON Missense_F50L exm1529849 20 23807162 [A/G] NM_001322 CST2 EXON Missense_R46C exm1529850 20 23807170 [T/C] NM_001322 CST2 EXON Missense_R43Q exm-rs6138150 20 23847009 [T/C] exm1529864 20 23856833 [T/C] NM_001900 CST5 EXON Missense_K141E exm1529865 20 23856835 [T/C] NM_001900 CST5 EXON Missense_R140Q exm1529866 20 23856836 [A/G] NM_001900 CST5 EXON Missense_R140W exm1529872 20 23858185 [T/C] NM_001900 CST5 EXON Missense_N101S exm1529874 20 23858200 [A/G] NM_001900 CST5 EXON Missense_T96I exm1529875 20 23858216 [T/C] NM_001900 CST5 EXON Missense_G91S exm1529890 20 23860178 [A/G] NM_001900 CST5 EXON Missense_C46R exm1529891 20 23860202 [T/C] NM_001900 CST5 EXON Missense_D38N exm1529894 20 23860243 [A/G] NM_001900 CST5 EXON Missense_S24L exm1529897 20 23860259 [T/C] NM_001900 CST5 EXON Missense_V19M exm1529931 20 23966524 [A/G] NM_178312,NM_178311 GGTLC1,GGTLC1 EXON Missense_T131M,Missense_T131M exm1529939 20 23966734 [A/G] NM_178312,NM_178311 GGTLC1,GGTLC1 EXON Missense_P95S,Missense_P95S exm2272924 20 24042329 [T/C] exm-rs6049375 20 24058407 [T/C] exm2254197 20 24118582 [A/G] exm2264701 20 24418579 [A/C] exm1529964 20 24523783 [A/G] NM_024893 SYNDIG1 EXON Missense_S17N exm1529967 20 24523867 [T/C] NM_024893 SYNDIG1 EXON Missense_A45V exm1529969 20 24523893 [A/G] NM_024893 SYNDIG1 EXON Missense_G54R exm1529970 20 24523897 [A/C] NM_024893 SYNDIG1 EXON Missense_A55D exm1529972 20 24523990 [A/G] NM_024893 SYNDIG1 EXON Missense_R86H exm1529976 20 24524025 [A/G] NM_024893 SYNDIG1 EXON Missense_V98M exm1529989 20 24524131 [T/G] NM_024893 SYNDIG1 EXON Missense_F133C exm1529991 20 24524178 [A/G] NM_024893 SYNDIG1 EXON Missense_D149N exm1530029 20 24930146 [A/G] NM_003650 CST7 EXON Missense_R2Q exm1530044 20 24938082 [C/G] NM_003650 CST7 EXON Missense_R77T exm1530049 20 24939601 [T/C] NM_003650 CST7 EXON Missense_I94T exm1530053 20 24940322 [A/G] NM_003650 CST7 EXON Missense_E138K exm1530058 20 24944454 [T/C] NM_020531 APMAP EXON Missense_V416I exm1530060 20 24944483 [A/G] NM_020531 APMAP EXON Missense_P406L exm1530067 20 24944559 [T/C] NM_020531 APMAP EXON Missense_D381N exm1530069 20 24944580 [A/G] NM_020531 APMAP EXON Missense_R374W exm1530100 20 24950900 [T/C] NM_020531 APMAP EXON Missense_D216N exm1530103 20 24952096 [A/G] NM_020531 APMAP EXON Missense_R180C exm1530105 20 24952147 [A/G] NM_020531 APMAP EXON Missense_L163F exm1530106 20 24952155 [T/C] NM_020531 APMAP EXON Missense_N160S exm1530116 20 24954338 [T/C] NM_020531 APMAP EXON Missense_V122I exm1530117 20 24954343 [A/C] NM_020531 APMAP EXON Missense_R120L exm1530123 20 24959408 [A/G] NM_020531 APMAP EXON Missense_I108T exm1530125 20 24959426 [A/G] NM_020531 APMAP EXON Missense_P102L exm1530127 20 24959478 [T/C] NM_020531 APMAP EXON Missense_N85D exm1530128 20 24959504 [A/G] NM_020531 APMAP EXON Missense_P76L exm1530131 20 24964556 [T/C] NM_020531 APMAP EXON Missense_I65M exm1530132 20 24964558 [T/C] NM_020531 APMAP EXON Missense_I65V exm1530174 20 24993252 [T/C] NM_032501,NM_001252675,NM_001252677,NM_001252676 ACSS1,ACSS1,ACSS1,ACSS1 EXON Missense_D586N,Missense_D584N,Silent,Missense_D465N exm1961074 20 24994201 [A/G] NM_032501,NM_001252675,NM_001252677,NM_001252676 ACSS1,ACSS1,ACSS1,ACSS1 EXON Missense_F517S,Missense_F515S,Missense_F517S,Missense_F396S exm1530194 20 24994292 [T/C] NM_032501,NM_001252675,NM_001252677,NM_001252676 ACSS1,ACSS1,ACSS1,ACSS1 EXON Missense_V487I,Missense_V485I,Missense_V487I,Missense_V366I exm1530198 20 24994614 [T/C] NM_032501,NM_001252675,NM_001252677,NM_001252676 ACSS1,ACSS1,ACSS1,ACSS1 EXON Missense_V479I,Missense_V477I,Missense_V479I,Missense_V358I exm1530202 20 24994664 [A/G] NM_032501,NM_001252675,NM_001252677,NM_001252676 ACSS1,ACSS1,ACSS1,ACSS1 EXON Missense_A462V,Missense_A460V,Missense_A462V,Missense_A341V exm1530203 20 24994676 [A/G] NM_032501,NM_001252675,NM_001252677,NM_001252676 ACSS1,ACSS1,ACSS1,ACSS1 EXON Missense_S458L,Missense_S456L,Missense_S458L,Missense_S337L exm1530232 20 25003701 [T/C] NM_032501,NM_001252675,NM_001252677,NM_001252676 ACSS1,ACSS1,ACSS1,ACSS1 EXON Missense_A279T,Missense_A279T,Missense_A279T,Missense_A158T exm1530238 20 25004176 [T/C] NM_032501,NM_001252675,NM_001252677,NM_001252676 ACSS1,ACSS1,ACSS1,ACSS1 EXON Missense_V245M,Missense_V245M,Missense_V245M,Missense_V124M exm1530241 20 25004219 [G/C] NM_032501,NM_001252675,NM_001252677,NM_001252676 ACSS1,ACSS1,ACSS1,ACSS1 EXON Missense_E230D,Missense_E230D,Missense_E230D,Missense_E109D exm1530243 20 25004229 [T/C] NM_032501,NM_001252675,NM_001252677,NM_001252676 ACSS1,ACSS1,ACSS1,ACSS1 EXON Missense_R227H,Missense_R227H,Missense_R227H,Missense_R106H exm1530246 20 25011572 [A/G] NM_032501,NM_001252675,NM_001252677,NM_001252676 ACSS1,ACSS1,ACSS1,ACSS1 EXON Missense_R152C,Missense_R152C,Missense_R152C,Missense_R31C exm1530271 20 25038553 [T/A] NM_032501,NM_001252675,NM_001252677 ACSS1,ACSS1,ACSS1 EXON Missense_S62R,Missense_S62R,Missense_S62R exm1961104 20 25056940 [A/G] NM_001256272,NM_001256271,NR_045951,NR_045948,NM_014588 VSX1,VSX1,VSX1,VSX1,VSX1 EXON Silent,Silent,Silent,Silent,Missense_T352M exm1530282 20 25056992 [T/C] NM_001256272,NM_001256271,NR_045951,NR_045948,NM_014588 VSX1,VSX1,VSX1,VSX1,VSX1 EXON Silent,Silent,Silent,Silent,Missense_E335K exm1530308 20 25059442 [T/C] NM_001256272,NM_001256271,NR_045951,NR_045948,NM_014588,NM_199425 VSX1,VSX1,VSX1,VSX1,VSX1,VSX1 EXON Silent,Silent,Silent,Silent,Silent,Missense_R217H exm1961113 20 25059497 [A/C] NM_001256272,NM_001256271,NR_045951,NR_045948,NM_014588,NM_199425 VSX1,VSX1,VSX1,VSX1,VSX1,VSX1 EXON Missense_V199L,Missense_V199L,Silent,Silent,Missense_V199L,Missense_V199L exm1530316 20 25060078 [T/C] NM_001256272,NM_001256271,NR_045951,NR_045948,NM_014588,NM_199425 VSX1,VSX1,VSX1,VSX1,VSX1,VSX1 EXON Missense_R166Q,Missense_R166Q,Silent,Silent,Missense_R166Q,Missense_R166Q exm2275139 20 25060096 [A/C] NM_001256272,NM_001256271,NR_045951,NR_045948,NM_014588,NM_199425 VSX1,VSX1,VSX1,VSX1,VSX1,VSX1 EXON Missense_G160V,Missense_G160V,Silent,Silent,Missense_G160V,Missense_G160V exm1530320 20 25060143 [G/C] NM_001256272,NM_001256271,NR_045951,NR_045948,NM_014588,NM_199425 VSX1,VSX1,VSX1,VSX1,VSX1,VSX1 EXON Missense_D144E,Missense_D144E,Silent,Silent,Missense_D144E,Missense_D144E exm1530323 20 25062342 [T/G] NM_001256272,NM_001256271,NR_045951,NR_045948,NM_014588,NM_199425 VSX1,VSX1,VSX1,VSX1,VSX1,VSX1 EXON Missense_R131S,Missense_R131S,Silent,Silent,Missense_R131S,Missense_R131S exm2254200 20 25067283 [T/C] exm1530347 20 25187213 [A/G] NM_001247,NM_001114089 ENTPD6,ENTPD6 EXON Missense_S14N,Silent exm1530349 20 25187219 [T/C] NM_001247,NM_001114089 ENTPD6,ENTPD6 EXON Missense_I16T,Silent exm1530350 20 25187224 [A/C] NM_001247,NM_001114089 ENTPD6,ENTPD6 EXON Missense_Q18K,Silent exm1530357 20 25187724 [A/G] NM_001247,NM_001114089 ENTPD6,ENTPD6 EXON Missense_G23S,Missense_G6S exm1530361 20 25187848 [A/G] NM_001247,NM_001114089 ENTPD6,ENTPD6 EXON Missense_R64Q,Missense_R47Q exm1530362 20 25187856 [A/G] NM_001247,NM_001114089 ENTPD6,ENTPD6 EXON Missense_A67T,Missense_A50T exm2234183 20 25190505 [A/G] NM_001247,NM_001114089 ENTPD6,ENTPD6 EXON Missense_E133K,Missense_E116K exm1530379 20 25193902 [A/G] NM_001247,NM_001114089 ENTPD6,ENTPD6 EXON Missense_A153T,Missense_A136T exm1530381 20 25193915 [A/G] NM_001247,NM_001114089 ENTPD6,ENTPD6 EXON Missense_R157Q,Missense_R140Q exm1961141 20 25193953 [A/G] NM_001247,NM_001114089 ENTPD6,ENTPD6 EXON Missense_D170N,Missense_D153N exm1530388 20 25193986 [A/G] NM_001247,NM_001114089 ENTPD6,ENTPD6 EXON Missense_A181T,Missense_A164T exm1530390 20 25195509 [A/G] NM_001247,NM_001114089 ENTPD6,ENTPD6 EXON Missense_K202E,Missense_K185E exm1530407 20 25198180 [T/C] NM_001247,NM_001114089 ENTPD6,ENTPD6 EXON Missense_R281W,Missense_R264W exm1530408 20 25198190 [A/G] NM_001247,NM_001114089 ENTPD6,ENTPD6 EXON Missense_N284S,Missense_N267S exm2254201 20 25199210 [A/G] NM_001247,NM_001114089 ENTPD6,ENTPD6 EXON Synonymous_S301S,Synonymous_S284S exm1530413 20 25199215 [A/G] NM_001247,NM_001114089 ENTPD6,ENTPD6 EXON Missense_R303H,Missense_R286H exm1530416 20 25199235 [A/G] NM_001247,NM_001114089 ENTPD6,ENTPD6 EXON Missense_V310M,Missense_V293M exm1530431 20 25203612 [T/C] NM_001247,NM_001114089 ENTPD6,ENTPD6 EXON Missense_I395T,Missense_I378T exm1530445 20 25205903 [A/G] NM_001247,NM_001114089 ENTPD6,ENTPD6 EXON Missense_V436I,Missense_V419I exm1530449 20 25206184 [T/C] NM_001247,NM_001114089 ENTPD6,ENTPD6 EXON Missense_I469T,Missense_I452T exm1530459 20 25228902 [A/C] NM_002862 PYGB EXON Missense_K30Q exm1530462 20 25228984 [G/C] NM_002862 PYGB EXON Missense_A57G exm2254202 20 25239956 [T/C] NM_002862 PYGB EXON Synonymous_C109C exm1530472 20 25249826 [T/G] NM_002862 PYGB EXON Missense_G136V exm1530487 20 25255315 [T/C] NM_002862 PYGB EXON Missense_R206C exm1530490 20 25255336 [A/G] NM_002862 PYGB EXON Missense_G213S exm1961199 20 25257318 [A/G] NM_002862 PYGB EXON Missense_G233S exm1530510 20 25259006 [T/G] NM_002862 PYGB EXON Missense_A303S exm1530531 20 25261004 [T/C] NM_002862 PYGB EXON Missense_R399W exm1530536 20 25261594 [A/G] NM_002862 PYGB EXON Missense_A417T exm1530538 20 25261606 [A/G] NM_002862 PYGB EXON Missense_G421S exm1530544 20 25261667 [A/G] NM_002862 PYGB EXON Missense_N441S exm1530552 20 25262758 [T/C] NM_002862 PYGB EXON Missense_P498L exm1530554 20 25262769 [A/G] NM_002862 PYGB EXON Missense_D502N exm1530557 20 25263834 [C/G] NM_002862 PYGB EXON Missense_T514S exm1530563 20 25264772 [T/G] NM_002862 PYGB EXON Missense_E551D exm1530573 20 25269061 [G/C] NM_002862 PYGB EXON Missense_R590P exm1530582 20 25271155 [C/G] NM_002862 PYGB EXON Missense_K622N exm1530599 20 25273164 [A/G] NM_002862 PYGB EXON Missense_V698M exm1530603 20 25273245 [A/G] NM_002862 PYGB EXON Missense_K725E exm1530631 20 25277096 [A/G] NM_002862,NM_015600 PYGB,ABHD12 EXON Missense_E824K,Silent exm1530633 20 25277133 [T/C] NM_002862,NM_015600 PYGB,ABHD12 EXON Missense_P836L,Silent exm1530643 20 25282864 [T/C] NM_015600,NM_001042472 ABHD12,ABHD12 EXON Missense_R383Q,Missense_R383Q exm1530645 20 25282874 [A/C] NM_015600,NM_001042472 ABHD12,ABHD12 EXON Nonsense_E380X,Nonsense_E380X exm1530650 20 25282967 [T/C] NM_015600,NM_001042472 ABHD12,ABHD12 EXON Missense_A349T,Missense_A349T exm1961268 20 25284263 [T/C] NM_015600,NM_001042472 ABHD12,ABHD12 EXON Missense_V318M,Missense_V318M exm2234188 20 25288667 [A/C] NM_015600,NM_001042472 ABHD12,ABHD12 EXON Missense_A268S,Missense_A268S exm1530666 20 25289111 [A/G] NM_015600,NM_001042472 ABHD12,ABHD12 EXON Missense_R257W,Missense_R257W exm1530670 20 25290190 [A/G] NM_015600,NM_001042472 ABHD12,ABHD12 EXON Missense_T214M,Missense_T214M exm2276705 20 25303978 [A/G] NM_015600,NM_001042472 ABHD12,ABHD12 EXON Synonymous_D135D,Synonymous_D135D exm1530692 20 25319976 [A/G] NM_015600,NM_001042472 ABHD12,ABHD12 EXON Missense_V68A,Missense_V68A exm1530693 20 25319977 [T/C] NM_015600,NM_001042472 ABHD12,ABHD12 EXON Missense_V68M,Missense_V68M exm1530695 20 25319985 [T/C] NM_015600,NM_001042472 ABHD12,ABHD12 EXON Missense_R65Q,Missense_R65Q exm1530714 20 25394454 [A/G] NM_021067 GINS1 EXON Missense_E35G exm1530716 20 25398748 [T/C] NM_021067 GINS1 EXON Missense_R83C exm1530719 20 25398790 [A/G] NM_021067 GINS1 EXON Missense_V97I exm1530736 20 25434139 [T/C] NM_025176 NINL EXON Missense_R1366H exm1530738 20 25434163 [T/C] NM_025176 NINL EXON Missense_S1358N exm1530753 20 25436385 [T/C] NM_025176 NINL EXON Missense_R1294Q exm1530763 20 25439081 [T/C] NM_025176 NINL EXON Missense_E1261K exm1530765 20 25439090 [A/G] NM_025176 NINL EXON Missense_R1258C exm1530773 20 25442190 [C/G] NM_025176 NINL EXON Missense_L1222V exm1530774 20 25442226 [A/G] NM_025176 NINL EXON Nonsense_Q1210X exm1530782 20 25443177 [T/G] NM_025176 NINL EXON Missense_N1142H exm1530789 20 25448084 [G/C] NM_025176 NINL EXON Missense_E1122Q exm1530792 20 25450678 [T/C] NM_025176 NINL EXON Missense_G1101E exm1530793 20 25456679 [T/C] NM_025176 NINL EXON Missense_R1083K exm1961365 20 25456684 [G/C] NM_025176 NINL EXON Missense_N1081K exm1530794 20 25456698 [T/C] NM_025176 NINL EXON Missense_D1077N exm1530796 20 25456718 [T/C] NM_025176 NINL EXON Missense_R1070Q exm1530797 20 25456721 [T/A] NM_025176 NINL EXON Missense_V1069D exm1530802 20 25456781 [A/C] NM_025176 NINL EXON Missense_I1049R exm1961367 20 25456793 [T/C] NM_025176 NINL EXON Missense_G1045E exm1961368 20 25456830 [C/G] NM_025176 NINL EXON Missense_G1033R exm1530816 20 25457055 [A/G] NM_025176 NINL EXON Missense_W958R exm1530818 20 25457079 [T/C] NM_025176 NINL EXON Missense_A950T exm1961374 20 25457187 [T/C] NM_025176 NINL EXON Missense_V914M exm2234194 20 25457295 [A/G] NM_025176 NINL EXON Missense_R878C exm2275140 20 25457321 [A/G] NM_025176 NINL EXON Missense_S869F exm1530825 20 25457375 [A/G] NM_025176 NINL EXON Missense_P851L exm1530831 20 25457444 [A/G] NM_025176 NINL EXON Missense_A828V exm1961380 20 25457481 [A/G] NM_025176 NINL EXON Nonsense_R816X exm1961381 20 25457541 [T/C] NM_025176 NINL EXON Missense_A796T exm1530838 20 25457555 [A/G] NM_025176 NINL EXON Missense_A791V exm1961382 20 25457559 [A/G] NM_025176 NINL EXON Missense_C790R exm1530839 20 25457561 [A/G] NM_025176 NINL EXON Missense_P789L exm1530845 20 25457690 [A/G] NM_025176 NINL EXON Missense_S746L exm1530846 20 25457712 [T/C] NM_025176 NINL EXON Missense_A739T exm1961391 20 25459623 [A/G] NM_025176 NINL EXON Missense_P713S exm1530856 20 25459719 [T/C] NM_025176 NINL EXON Missense_E681K exm1530858 20 25459729 [A/G] NM_025176 NINL EXON Synonymous_A677A exm2254203 20 25459729 [A/G] NM_025176 NINL EXON Synonymous_A677A exm1530870 20 25460861 [A/G] NM_025176 NINL EXON Missense_T618M exm1530878 20 25462666 [T/C] NM_025176 NINL EXON Missense_R583Q exm1530896 20 25470564 [T/C] NM_025176 NINL EXON Missense_E515K exm1530899 20 25470575 [A/C] NM_025176 NINL EXON Missense_L511R exm1530909 20 25472097 [T/C] NM_025176 NINL EXON Missense_E459K exm1530910 20 25472099 [T/C] NM_025176 NINL EXON Missense_R458Q exm1530911 20 25472105 [A/G] NM_025176 NINL EXON Missense_A456V exm1530919 20 25477410 [T/C] NM_025176 NINL EXON Missense_R400H exm1530930 20 25481544 [T/C] NM_025176 NINL EXON Missense_A322T exm1530932 20 25481559 [T/C] NM_025176 NINL EXON Missense_D317N exm1530934 20 25481622 [T/C] NM_025176 NINL EXON Missense_T296A exm1530943 20 25484623 [A/G] NM_025176 NINL EXON Missense_R276W exm1530951 20 25485580 [C/G] NM_025176 NINL EXON Missense_E218Q exm1530955 20 25485604 [T/C] NM_025176 NINL EXON Missense_V210M exm1530961 20 25485663 [T/C] NM_025176 NINL EXON Missense_C190Y exm2276707 20 25491321 [A/C] NM_025176 NINL EXON Missense_F169C exm1530969 20 25493472 [T/C] NM_025176 NINL EXON Missense_E150K exm1530971 20 25493496 [A/G] NM_025176 NINL EXON Missense_R142C exm1530973 20 25493537 [A/G] NM_025176 NINL EXON Missense_P128L exm1530974 20 25493559 [T/C] NM_025176 NINL EXON Missense_A121T exm1530975 20 25493585 [T/C] NM_025176 NINL EXON Missense_R112Q exm1530980 20 25498425 [A/G] NM_025176 NINL EXON Missense_R81C exm1530981 20 25498430 [A/C] NM_025176 NINL EXON Missense_G79V exm1530992 20 25507208 [T/C] NM_025176 NINL EXON Missense_N6D exm1531008 20 25596784 [T/C] NM_152667 NANP EXON Missense_N175S exm1531009 20 25596850 [A/G] NM_152667 NANP EXON Missense_A153V exm1531021 20 25597061 [T/C] NM_152667 NANP EXON Missense_T83A exm1531028 20 25604536 [T/G] NM_152667 NANP EXON Missense_L17I exm1531034 20 25604572 [A/G] NM_152667 NANP EXON Missense_R5C exm1531042 20 25655765 [T/C] NM_015655 ZNF337 EXON Missense_R720Q exm1531044 20 25655849 [T/C] NM_015655 ZNF337 EXON Missense_R692Q exm1531049 20 25655936 [T/C] NM_015655 ZNF337 EXON Missense_Q663R exm1531052 20 25655955 [T/C] NM_015655 ZNF337 EXON Missense_V657M exm1531054 20 25656021 [A/G] NM_015655 ZNF337 EXON Nonsense_R635X exm1961483 20 25656024 [G/C] NM_015655 ZNF337 EXON Missense_G634R exm1531061 20 25656224 [A/G] NM_015655 ZNF337 EXON Missense_S567L exm1531075 20 25656582 [T/C] NM_015655 ZNF337 EXON Missense_V448M exm1531076 20 25656599 [T/A] NM_015655 ZNF337 EXON Missense_I442N exm1531077 20 25656613 [A/C] NM_015655 ZNF337 EXON Missense_C437W exm1531078 20 25656627 [G/C] NM_015655 ZNF337 EXON Missense_V433L exm1531089 20 25656848 [A/T] NM_015655 ZNF337 EXON Missense_N359I exm1531102 20 25657106 [T/C] NM_015655 ZNF337 EXON Missense_Y273C exm1531106 20 25657232 [G/C] NM_015655 ZNF337 EXON Missense_T231R exm2254204 20 25657276 [A/G] NM_015655 ZNF337 EXON Synonymous_G216G exm1531110 20 25657370 [T/C] NM_015655 ZNF337 EXON Missense_R185H exm1531112 20 25657386 [A/C] NM_015655 ZNF337 EXON Missense_F180V exm1531121 20 25657517 [A/G] NM_015655 ZNF337 EXON Missense_P136L exm2234199 20 25657518 [A/G] NM_015655 ZNF337 EXON Missense_P136S exm1531126 20 25657649 [T/C] NM_015655 ZNF337 EXON Missense_R92Q exm1531131 20 25666265 [T/C] NM_015655 ZNF337 EXON Missense_R63Q exm1531133 20 25666278 [C/G] NM_015655 ZNF337 EXON Missense_E59Q exm1531135 20 25666286 [C/G] NM_015655 ZNF337 EXON Missense_S56C exm1531141 20 25666737 [T/C] NM_015655 ZNF337 EXON Missense_V17I exm1961498 20 25667101 [A/G] NM_015655 ZNF337 EXON Silent exm2268335 20 25672987 [A/G] NM_015655 ZNF337 Silent exm2272888 20 26151507 [T/G] exm1531279 20 29845473 [T/C] NM_001037730 DEFB115 EXON Missense_P3S exm1531281 20 29845559 [A/G] NM_001037730 DEFB115 EXON Synonymous_P31P exm1531285 20 29847314 [C/G] NM_001037730 DEFB115 EXON Missense_C49S exm1531288 20 29847402 [A/C] NM_001037730 DEFB115 EXON Missense_H78Q exm1961856 20 29891200 [C/G] NM_001037731 DEFB116 EXON Missense_L42V exm1531304 20 29891209 [A/G] NM_001037731 DEFB116 EXON Missense_P39S exm1531305 20 29891242 [T/A] NM_001037731 DEFB116 EXON Missense_S28T exm1531308 20 29896333 [A/T] NM_001037731 DEFB116 EXON Missense_Q19L exm1531312 20 29960701 [T/C] NM_054112 DEFB118 EXON Missense_C34R exm1531313 20 29960720 [A/G] NM_054112 DEFB118 EXON Missense_D40G exm1531315 20 29960756 [A/G] NM_054112 DEFB118 EXON Missense_R52Q exm1531318 20 29960767 [A/G] NM_054112 DEFB118 EXON Missense_I56V exm1531322 20 29960801 [T/C] NM_054112 DEFB118 EXON Missense_A67V exm1531327 20 29960870 [T/C] NM_054112 DEFB118 EXON Missense_T90M exm1531340 20 29965123 [T/C] NR_073152,NR_073153,NM_153289,NR_073151 DEFB119,DEFB119,DEFB119,DEFB119 EXON Silent,Silent,Missense_M61V,Silent exm1531347 20 29965221 [T/C] NR_073152,NR_073153,NM_153289,NR_073151 DEFB119,DEFB119,DEFB119,DEFB119 EXON Silent,Silent,Missense_C28Y,Silent exm1531348 20 29965224 [T/C] NR_073152,NR_073153,NM_153289,NR_073151 DEFB119,DEFB119,DEFB119,DEFB119 EXON Silent,Silent,Missense_R27Q,Silent exm1531353 20 29966158 [A/G] NR_073152,NR_073153,NM_153289,NR_073151 DEFB119,DEFB119,DEFB119,DEFB119 EXON Silent,Silent,Silent,Silent exm1531354 20 29966194 [A/G] NR_073152,NR_073153,NM_153289,NR_073151 DEFB119,DEFB119,DEFB119,DEFB119 EXON Silent,Silent,Silent,Silent exm2272889 20 29968863 [T/C] NR_073152,NR_073153,NM_153289,NR_073151 DEFB119,DEFB119,DEFB119,DEFB119 Silent,Silent,Silent,Silent exm1531358 20 29976830 [A/C] NR_073152,NR_073153,NM_153289,NR_073151,NM_001271209,NM_153323 DEFB119,DEFB119,DEFB119,DEFB119,DEFB119,DEFB119 EXON Silent,Silent,Silent,Silent,Missense_X88E,Missense_X89E exm2276708 20 29976935 [A/G] NR_073152,NR_073153,NM_153289,NR_073151,NM_001271209,NM_153323 DEFB119,DEFB119,DEFB119,DEFB119,DEFB119,DEFB119 EXON Silent,Silent,Silent,Silent,Missense_R53C,Missense_R54C exm1531361 20 29976948 [C/G] NR_073152,NR_073153,NM_153289,NR_073151,NM_001271209,NM_153323 DEFB119,DEFB119,DEFB119,DEFB119,DEFB119,DEFB119 EXON Silent,Silent,Silent,Silent,Missense_C48W,Missense_C49W exm1531362 20 29976949 [A/C] NR_073152,NR_073153,NM_153289,NR_073151,NM_001271209,NM_153323 DEFB119,DEFB119,DEFB119,DEFB119,DEFB119,DEFB119 EXON Silent,Silent,Silent,Silent,Missense_C48F,Missense_C49F exm1531368 20 29976971 [A/G] NR_073152,NR_073153,NM_153289,NR_073151,NM_001271209,NM_153323 DEFB119,DEFB119,DEFB119,DEFB119,DEFB119,DEFB119 EXON Silent,Silent,Silent,Silent,Missense_R41C,Missense_R42C exm1531369 20 29977000 [A/C] NR_073152,NR_073153,NM_153289,NR_073151,NM_001271209,NM_153323 DEFB119,DEFB119,DEFB119,DEFB119,DEFB119,DEFB119 EXON Silent,Silent,Silent,Silent,Missense_L31W,Missense_L32W exm1531372 20 29977012 [T/C] NR_073152,NR_073153,NM_153289,NR_073151,NM_001271209,NM_153323 DEFB119,DEFB119,DEFB119,DEFB119,DEFB119,DEFB119 EXON Silent,Silent,Silent,Silent,Missense_H27R,Missense_H28R exm1531373 20 29977016 [T/C] NR_073152,NR_073153,NM_153289,NR_073151,NM_001271209,NM_153323 DEFB119,DEFB119,DEFB119,DEFB119,DEFB119,DEFB119 EXON Silent,Silent,Silent,Silent,Missense_G26R,Missense_G27R exm1531381 20 29992741 [T/C] NM_001171832,NM_001011878 DEFB121,DEFB121 EXON Missense_S57N,Missense_S69N exm1531383 20 29992847 [T/A] NM_001171832,NM_001011878 DEFB121,DEFB121 EXON Missense_C22S,Missense_C34S exm1531401 20 30037933 [A/G] NM_153324 DEFB123 EXON Missense_V54M exm1531404 20 30053314 [T/C] NM_001037500 DEFB124 EXON Missense_E71K exm1531405 20 30053322 [T/G] NM_001037500 DEFB124 EXON Missense_H68P exm1531406 20 30053334 [A/G] NM_001037500 DEFB124 EXON Missense_P64L exm1531407 20 30053352 [T/C] NM_001037500 DEFB124 EXON Missense_Y58C exm1531423 20 30064295 [A/G] NM_014012 REM1 EXON Missense_R16Q exm2275141 20 30064423 [C/G] NM_014012 REM1 EXON Missense_P59A exm1531434 20 30064462 [A/G] NM_014012 REM1 EXON Missense_D72N exm1531438 20 30064571 [T/C] NM_014012 REM1 EXON Missense_L108P exm1531447 20 30065694 [C/G] NM_014012 REM1 EXON Missense_T135S exm1531452 20 30070197 [C/G] NM_014012 REM1 EXON Missense_I177M exm1531501 20 30142584 [A/G] NM_030789,NM_178580,NM_178581 HM13,HM13,HM13 EXON Missense_E254K,Missense_E254K,Missense_E254K exm1531514 20 30155966 [A/G] NM_030789,NM_178580,NM_178581,NR_046853 HM13,HM13,HM13,HM13-AS1 EXON Silent,Missense_D374N,Missense_D374N,Silent exm1531529 20 30193201 [T/C] NM_002165,NM_181353 ID1,ID1 EXON Missense_A4V,Missense_A4V exm2276709 20 30193210 [A/G] NM_002165,NM_181353 ID1,ID1 EXON Missense_S7N,Missense_S7N exm1531531 20 30193211 [G/C] NM_002165,NM_181353 ID1,ID1 EXON Missense_S7R,Missense_S7R exm1531541 20 30193377 [A/G] NM_002165,NM_181353 ID1,ID1 EXON Missense_N63D,Missense_N63D exm1531546 20 30193440 [T/C] NM_002165,NM_181353 ID1,ID1 EXON Missense_P84S,Missense_P84S exm1531585 20 30231212 [T/C] NM_032609 COX4I2 EXON Missense_R85W exm1531595 20 30232569 [A/G] NM_032609 COX4I2 Silent exm1531600 20 30232603 [A/G] NM_032609 COX4I2 EXON Missense_E138K exm1531601 20 30232606 [T/C] NM_032609 COX4I2 EXON Missense_R139W exm1531603 20 30232673 [A/G] NM_032609 COX4I2 EXON Missense_R161H exm1531622 20 30310005 [T/C] NM_001191,NM_138578 BCL2L1,BCL2L1 EXON Missense_R6Q,Missense_R6Q exm1531640 20 30358252 [C/G] NM_012112 TPX2 EXON Missense_L155V exm1531661 20 30365359 [A/G] NM_012112 TPX2 EXON Missense_R267Q exm1531666 20 30366700 [A/G] NM_012112 TPX2 EXON Missense_T323A exm2234224 20 30370109 [T/C] NM_012112 TPX2 EXON Missense_V371A exm2234225 20 30370112 [A/T] NM_012112 TPX2 EXON Missense_L372Q exm1531671 20 30370123 [T/C] NM_012112 TPX2 EXON Missense_H376Y exm1531672 20 30370126 [T/C] NM_012112 TPX2 EXON Missense_R377C exm1531676 20 30370180 [A/G] NM_012112 TPX2 EXON Missense_E395K exm2254215 20 30371628 [A/G] NM_012112 TPX2 EXON Synonymous_K439K exm1531692 20 30381660 [A/G] NM_012112 TPX2 EXON Missense_E507K exm1531695 20 30381670 [T/C] NM_012112 TPX2 EXON Missense_V510A exm1531707 20 30385267 [A/G] NM_012112 TPX2 EXON Missense_V632I exm1531721 20 30407387 [A/G] NM_033118 MYLK2 EXON Missense_A2T exm2234227 20 30407433 [A/C] NM_033118 MYLK2 EXON Missense_T17K exm1531729 20 30408049 [A/C] NM_033118 MYLK2 EXON Missense_A58D exm1531745 20 30408160 [A/C] NM_033118 MYLK2 EXON Missense_A95E exm1531755 20 30409276 [A/G] NM_033118 MYLK2 EXON Missense_E170K exm1531756 20 30409292 [A/C] NM_033118 MYLK2 EXON Missense_T175N exm1531766 20 30411298 [T/C] NM_033118 MYLK2 EXON Missense_P264L exm1531769 20 30411341 [A/T] NM_033118 MYLK2 EXON Missense_N278K exm2234228 20 30414721 [T/G] NM_033118 MYLK2 EXON Missense_V402F exm1531799 20 30418650 [T/C] NM_033118 MYLK2 EXON Missense_T418I exm1531821 20 30421575 [A/G] NM_033118 MYLK2 EXON Missense_G589E exm1531823 20 30421587 [T/C] NM_033118 MYLK2 EXON Missense_A593V exm1531828 20 30432439 [T/C] NM_004118 FOXS1 EXON Missense_G303S exm1531837 20 30432571 [T/C] NM_004118 FOXS1 EXON Missense_M259V exm1531843 20 30432679 [T/C] NM_004118 FOXS1 EXON Missense_G223S exm1531848 20 30432756 [A/G] NM_004118 FOXS1 EXON Missense_T197M exm1531857 20 30432933 [A/C] NM_004118 FOXS1 EXON Missense_S138I exm1531860 20 30432954 [T/C] NM_004118 FOXS1 EXON Missense_R131H exm1531870 20 30433033 [T/C] NM_004118 FOXS1 EXON Missense_G105S exm1531874 20 30433126 [T/C] NM_004118 FOXS1 EXON Missense_E74K exm1531882 20 30433194 [T/C] NM_004118 FOXS1 EXON Missense_R51Q exm1531889 20 30433303 [T/C] NM_004118 FOXS1 EXON Missense_E15K exm1531921 20 30449234 [T/C] NM_177991,NM_001012644,NM_080611 DUSP15,DUSP15,DUSP15 EXON Missense_R124Q,Missense_R124Q,Missense_R227Q exm1531947 20 30450504 [A/T] NM_177991,NM_001012644,NM_080611 DUSP15,DUSP15,DUSP15 EXON Silent,Silent,Missense_Y102F exm1531949 20 30451725 [T/C] NM_177991,NM_001012644,NM_080611 DUSP15,DUSP15,DUSP15 EXON Silent,Silent,Missense_N83S exm1531966 20 30457370 [T/C] NM_177991,NM_001012644,NM_080611 DUSP15,DUSP15,DUSP15 EXON Silent,Silent,Missense_I18V exm1531968 20 30457394 [A/G] NM_177991,NM_001012644,NM_080611 DUSP15,DUSP15,DUSP15 EXON Silent,Silent,Missense_P10S exm2254216 20 30458965 [T/C] NM_001008409 TTLL9 EXON Synonymous_G12G exm1531983 20 30486337 [A/C] NM_001008409 TTLL9 EXON Missense_R59S exm1531984 20 30486338 [A/G] NM_001008409 TTLL9 EXON Missense_R59H exm1531988 20 30496398 [A/G] NM_001008409 TTLL9 EXON Missense_G71R exm1531990 20 30496419 [T/C] NM_001008409 TTLL9 EXON Missense_C78R exm1531992 20 30496438 [A/G] NM_001008409 TTLL9 EXON Missense_R84Q exm1531997 20 30497546 [T/C] NM_001008409 TTLL9 EXON Missense_R109W exm1531999 20 30497576 [T/C] NM_001008409 TTLL9 EXON Missense_R119W exm1532000 20 30497577 [A/G] NM_001008409 TTLL9 EXON Missense_R119Q exm1532008 20 30507694 [T/C] NM_001008409 TTLL9 EXON Missense_F178L exm2277191 20 30510769 [A/G] NM_001008409 TTLL9 EXON Missense_T193A exm1532010 20 30510779 [G/C] NM_001008409 TTLL9 EXON Missense_S196C exm1532021 20 30513893 [A/G] NM_001008409 TTLL9 EXON Synonymous_Q249Q exm1532026 20 30521602 [G/C] NM_001008409 TTLL9 Silent exm1962158 20 30522648 [A/G] NM_001008409 TTLL9 EXON Missense_E321K exm1532044 20 30525294 [T/C] NM_001008409 TTLL9 EXON Missense_V367A exm1532047 20 30526994 [A/G] NM_001008409 TTLL9 EXON Missense_D390N exm1532049 20 30527034 [T/C] NM_001008409 TTLL9 EXON Missense_S403L exm1962172 20 30530763 [A/G] NM_001008409 TTLL9 EXON Missense_R420Q exm1532056 20 30530792 [T/G] NM_001008409 TTLL9 EXON Missense_S430A exm1532064 20 30533647 [T/C] NM_030815 PDRG1 EXON Missense_D122G exm1532066 20 30533686 [A/G] NM_030815 PDRG1 EXON Missense_P109L exm1532074 20 30534344 [A/G] NM_030815 PDRG1 EXON Missense_R92W exm1532080 20 30538186 [A/G] NM_030815 PDRG1 EXON Missense_V31A exm1532098 20 30556211 [C/G] NM_001011718 XKR7 EXON Missense_A78G exm1532105 20 30556355 [T/C] NM_001011718 XKR7 EXON Missense_A126V exm1532123 20 30584380 [T/C] NM_001011718 XKR7 EXON Missense_S287L exm1532125 20 30584395 [A/G] NM_001011718 XKR7 EXON Missense_R292Q exm1532129 20 30584670 [T/A] NM_001011718 XKR7 EXON Missense_M384L exm1532133 20 30584710 [T/C] NM_001011718 XKR7 EXON Missense_A397V exm1532136 20 30584730 [T/C] NM_001011718 XKR7 EXON Missense_S404P exm1532178 20 30605657 [G/C] NM_080625 CCM2L EXON Missense_E85Q exm1532204 20 30610508 [T/A] NM_080625 CCM2L EXON Missense_I327F exm1532212 20 30616839 [C/G] NM_080625 CCM2L EXON Missense_R371G exm1532227 20 30659506 [A/G] NM_001172132,NM_002110,NM_001172129,NM_001172130,NM_001172131,NM_001172133 HCK,HCK,HCK,HCK,HCK,HCK EXON Missense_N15S,Missense_N35S,Missense_N14S,Missense_N35S,Missense_N14S,Missense_N14S exm1532231 20 30659547 [C/G] NM_001172132,NM_002110,NM_001172129,NM_001172130,NM_001172131,NM_001172133 HCK,HCK,HCK,HCK,HCK,HCK EXON Missense_P29A,Missense_P49A,Missense_P28A,Missense_P49A,Missense_P28A,Missense_P28A exm1532235 20 30659584 [T/C] NM_001172132,NM_002110,NM_001172129,NM_001172130,NM_001172131,NM_001172133 HCK,HCK,HCK,HCK,HCK,HCK EXON Missense_P41L,Missense_P61L,Missense_P40L,Missense_P61L,Missense_P40L,Missense_P40L exm1532237 20 30661123 [A/G] NM_001172132,NM_002110,NM_001172129,NM_001172130,NM_001172131,NM_001172133 HCK,HCK,HCK,HCK,HCK,HCK EXON Missense_G42E,Missense_G62E,Missense_G41E,Missense_G62E,Missense_G41E,Missense_G41E exm2275142 20 30661133 [A/C] NM_001172132,NM_002110,NM_001172129,NM_001172130,NM_001172131,NM_001172133 HCK,HCK,HCK,HCK,HCK,HCK EXON Missense_S45R,Missense_S65R,Missense_S44R,Missense_S65R,Missense_S44R,Missense_S44R exm1532241 20 30661161 [G/C] NM_001172132,NM_002110,NM_001172129,NM_001172130,NM_001172131,NM_001172133 HCK,HCK,HCK,HCK,HCK,HCK EXON Missense_E55Q,Missense_E75Q,Missense_E54Q,Missense_E75Q,Missense_E54Q,Missense_E54Q exm1962239 20 30671780 [C/G] NM_001172132,NM_002110,NM_001172129,NM_001172130,NM_001172131,NM_001172133 HCK,HCK,HCK,HCK,HCK,HCK EXON Missense_G186R,Missense_G206R,Missense_G185R,Missense_G205R,Missense_G184R,Missense_G185R exm1532269 20 30672224 [T/C] NM_001172132,NM_002110,NM_001172129,NM_001172130,NM_001172131,NM_001172133 HCK,HCK,HCK,HCK,HCK,HCK EXON Missense_S218L,Missense_S238L,Missense_S217L,Missense_S237L,Missense_S216L,Missense_S217L exm1532276 20 30674467 [T/C] NM_001172132,NM_002110,NM_001172129,NM_001172130,NM_001172131,NM_001172133 HCK,HCK,HCK,HCK,HCK,HCK EXON Missense_T271M,Missense_T291M,Missense_T270M,Missense_T290M,Missense_T269M,Missense_T270M exm1532288 20 30681681 [A/G] NM_001172132,NM_002110,NM_001172129,NM_001172130,NM_001172131,NM_001172133 HCK,HCK,HCK,HCK,HCK,HCK EXON Missense_A350T,Missense_A370T,Missense_A349T,Missense_A369T,Missense_A348T,Missense_A349T exm2234236 20 30681723 [T/G] NM_001172132,NM_002110,NM_001172129,NM_001172130,NM_001172131,NM_001172133 HCK,HCK,HCK,HCK,HCK,HCK EXON Missense_A364S,Missense_A384S,Missense_A363S,Missense_A383S,Missense_A362S,Missense_A363S exm2272890 20 30702144 [T/C] NM_014742 TM9SF4 Silent exm1532334 20 30729301 [A/G] NM_014742 TM9SF4 EXON Synonymous_G77G exm1532338 20 30729416 [A/G] NM_014742 TM9SF4 EXON Missense_E116K exm1532344 20 30729619 [A/G] NM_014742 TM9SF4 EXON Missense_R150Q exm1532346 20 30729673 [A/G] NM_014742 TM9SF4 EXON Missense_R168Q exm1532352 20 30730863 [T/C] NM_014742 TM9SF4 EXON Missense_R203C exm1532354 20 30730900 [A/G] NM_014742 TM9SF4 EXON Missense_R215K exm1532370 20 30738655 [T/C] NM_014742 TM9SF4 EXON Missense_R408W exm1532422 20 30784818 [T/C] NM_002657 PLAGL2 EXON Missense_V310M exm1532426 20 30784946 [C/G] NM_002657 PLAGL2 EXON Missense_S267T exm1532450 20 30789881 [A/G] NM_002657 PLAGL2 EXON Missense_A34V exm1532451 20 30789888 [A/G] NM_002657 PLAGL2 EXON Missense_R32W exm1532469 20 30797976 [A/G] NM_172236,NM_015352 POFUT1,POFUT1 EXON Missense_H76R,Missense_H76R exm1532471 20 30797995 [T/C] NM_172236,NM_015352 POFUT1,POFUT1 EXON Synonymous_N82N,Synonymous_N82N exm1532473 20 30803190 [A/G] NM_172236,NM_015352 POFUT1,POFUT1 EXON Missense_R122Q,Missense_R122Q exm1532485 20 30804851 [T/C] NM_172236,NM_015352 POFUT1,POFUT1 EXON Missense_X195R,Silent exm1962323 20 30818637 [A/G] NM_015352 POFUT1 EXON Missense_M251V exm1532497 20 30818649 [A/G] NM_015352 POFUT1 EXON Missense_G255R exm1532503 20 30818722 [T/C] NM_015352 POFUT1 EXON Missense_T279M exm1532512 20 30818823 [A/G] NM_015352 POFUT1 EXON Missense_E313K exm1532514 20 30818850 [T/C] NM_015352 POFUT1 EXON Missense_L322F exm1962325 20 30822298 [T/C] NM_015352 POFUT1 EXON Missense_P334L exm1532518 20 30822339 [A/G] NM_015352 POFUT1 EXON Missense_D348N exm1962327 20 30822388 [A/G] NM_015352 POFUT1 EXON Missense_R364Q exm1532539 20 30898259 [A/G] NM_004798 KIF3B EXON Missense_E227K exm1532560 20 30898883 [A/G] NM_004798 KIF3B EXON Missense_V435I exm1532561 20 30898899 [T/G] NM_004798 KIF3B EXON Missense_M440R exm1532569 20 30904029 [A/G] NM_004798 KIF3B EXON Synonymous_E471E exm2254219 20 30904029 [A/G] NM_004798 KIF3B EXON Synonymous_E471E exm1532592 20 30918044 [T/C] NM_004798 KIF3B EXON Missense_A690V exm1532638 20 31019199 [A/G] NM_015338 ASXL1 EXON Missense_R265H exm1532642 20 31019413 [A/T] NM_015338 ASXL1 EXON Missense_S304C exm1532660 20 31021430 [G/C] NM_015338 ASXL1 EXON Missense_E477Q exm1962381 20 31021466 [C/G] NM_015338 ASXL1 EXON Missense_R489G exm1532664 20 31021521 [A/T] NM_015338 ASXL1 EXON Missense_I507N exm1532670 20 31021634 [T/C] NM_015338 ASXL1 EXON Missense_R545C exm1532672 20 31021655 [A/G] NM_015338 ASXL1 EXON Missense_I552V exm1532685 20 31022413 [A/G] NM_015338 ASXL1 EXON Missense_H633R exm1532692 20 31022469 [A/G] NM_015338 ASXL1 EXON Missense_G652S exm1532697 20 31022574 [T/C] NM_015338 ASXL1 EXON Missense_C687R exm1532701 20 31022625 [A/G] NM_015338 ASXL1 EXON Missense_G704R exm1532705 20 31022737 [T/A] NM_015338 ASXL1 EXON Missense_D741V exm1532707 20 31022766 [A/G] NM_015338 ASXL1 EXON Missense_V751I exm1532714 20 31022851 [T/C] NM_015338 ASXL1 EXON Missense_P779L exm1532719 20 31022910 [T/G] NM_015338 ASXL1 EXON Missense_D799Y exm1532729 20 31023028 [A/G] NM_015338 ASXL1 EXON Missense_K838R exm1532738 20 31023108 [A/G] NM_015338 ASXL1 EXON Missense_E865K exm1532748 20 31023472 [A/G] NM_015338 ASXL1 EXON Missense_N986S exm1532751 20 31023544 [T/C] NM_015338 ASXL1 EXON Missense_T1010M exm1532752 20 31023598 [T/C] NM_015338 ASXL1 EXON Missense_S1028L exm1962401 20 31023613 [T/A] NM_015338 ASXL1 EXON Missense_E1033V exm1532760 20 31023821 [T/G] NM_015338 ASXL1 EXON Missense_E1102D exm1532769 20 31023975 [C/G] NM_015338 ASXL1 EXON Missense_G1154R exm1532771 20 31024013 [C/G] NM_015338 ASXL1 EXON Missense_S1166R exm1532782 20 31024207 [T/C] NM_015338 ASXL1 EXON Missense_S1231F exm1532785 20 31024254 [T/C] NM_015338 ASXL1 EXON Missense_R1247C exm1532786 20 31024260 [A/G] NM_015338 ASXL1 EXON Missense_M1249V exm1532790 20 31024308 [T/G] NM_015338 ASXL1 EXON Missense_D1265Y exm1532792 20 31024380 [T/C] NM_015338 ASXL1 EXON Missense_R1289W exm1532795 20 31024404 [A/G] NM_015338 ASXL1 EXON Missense_V1297I exm1532798 20 31024450 [T/C] NM_015338 ASXL1 EXON Missense_A1312V exm1532800 20 31024480 [G/C] NM_015338 ASXL1 EXON Missense_P1322R exm1532802 20 31024488 [T/C] NM_015338 ASXL1 EXON Missense_L1325F exm1532808 20 31024614 [A/G] NM_015338 ASXL1 EXON Missense_V1367I exm1532811 20 31024662 [A/G] NM_015338 ASXL1 EXON Missense_E1383K exm1532813 20 31024698 [C/G] NM_015338 ASXL1 EXON Missense_L1395V exm1532814 20 31024704 [A/G] NM_015338 ASXL1 EXON Missense_G1397S exm1532818 20 31024762 [A/G] NM_015338 ASXL1 EXON Missense_E1416G exm1532828 20 31024985 [T/G] NM_015338 ASXL1 EXON Missense_L1490F exm1532829 20 31025008 [T/C] NM_015338 ASXL1 EXON Missense_T1498M exm2273578 20 31025163 [A/G] NM_015338 ASXL1 EXON Silent exm1532896 20 31043941 [T/C] NM_080616,NM_001256798 C20orf112,C20orf112 EXON Missense_G123R,Missense_G367R exm1532903 20 31044018 [A/G] NM_080616,NM_001256798 C20orf112,C20orf112 EXON Missense_P97L,Missense_P341L exm1532909 20 31044129 [A/G] NM_080616,NM_001256798 C20orf112,C20orf112 EXON Missense_T60M,Missense_T304M exm1532918 20 31062436 [T/C] NM_080616,NM_001256798 C20orf112,C20orf112 EXON Missense_R26Q,Missense_R270Q exm-rs4911241 20 31140165 [T/C] NM_001256798 C20orf112 Silent exm2268287 20 31214403 [A/G] exm1532952 20 31292247 [A/C] NM_001099339,NM_053041 COMMD7,COMMD7 EXON Missense_L157V,Missense_L158V exm1532962 20 31294506 [T/C] NM_001099339,NM_053041 COMMD7,COMMD7 EXON Missense_G99S,Missense_G100S exm1532963 20 31315700 [A/C] NM_001099339,NM_053041 COMMD7,COMMD7 EXON Missense_G80C,Missense_G81C exm1532978 20 31367929 [A/C] NM_001207055,NM_006892,NM_175849,NM_175848,NM_001207056,NM_175850 DNMT3B,DNMT3B,DNMT3B,DNMT3B,DNMT3B,DNMT3B EXON Silent,Silent,Silent,Silent,Silent,Missense_P3Q exm1532983 20 31368202 [A/G] NM_001207055,NM_006892,NM_175849,NM_175848,NM_001207056,NM_175850 DNMT3B,DNMT3B,DNMT3B,DNMT3B,DNMT3B,DNMT3B EXON Missense_G25R,Missense_G25R,Missense_G25R,Missense_G25R,Missense_G25R,Missense_G37R exm2254221 20 31374337 [T/C] NM_001207055,NM_006892,NM_175849,NM_175848,NM_001207056,NM_175850 DNMT3B,DNMT3B,DNMT3B,DNMT3B,DNMT3B,DNMT3B EXON Silent,Synonymous_S112S,Synonymous_S112S,Synonymous_S112S,Silent,Synonymous_S124S exm1533024 20 31375211 [T/C] NM_001207055,NM_006892,NM_175849,NM_175848,NM_001207056,NM_175850 DNMT3B,DNMT3B,DNMT3B,DNMT3B,DNMT3B,DNMT3B EXON Missense_P161L,Missense_P203L,Missense_P203L,Missense_P203L,Missense_P127L,Missense_P215L exm1533035 20 31379479 [A/G] NM_001207055,NM_006892,NM_175849,NM_175848,NM_001207056,NM_175850 DNMT3B,DNMT3B,DNMT3B,DNMT3B,DNMT3B,DNMT3B EXON Missense_V254I,Missense_V296I,Missense_V296I,Missense_V296I,Missense_V220I,Missense_V308I exm1533045 20 31381400 [T/C] NM_001207055,NM_006892,NM_175849,NM_175848,NM_001207056,NM_175850 DNMT3B,DNMT3B,DNMT3B,DNMT3B,DNMT3B,DNMT3B EXON Silent,Synonymous_Y375Y,Silent,Silent,Silent,Silent exm1533046 20 31381401 [A/G] NM_001207055,NM_006892,NM_175849,NM_175848,NM_001207056,NM_175850 DNMT3B,DNMT3B,DNMT3B,DNMT3B,DNMT3B,DNMT3B EXON Silent,Missense_E376K,Silent,Silent,Silent,Silent exm1533048 20 31383232 [T/C] NM_001207055,NM_006892,NM_175849,NM_175848,NM_001207056,NM_175850 DNMT3B,DNMT3B,DNMT3B,DNMT3B,DNMT3B,DNMT3B EXON Missense_R320C,Missense_R382C,Missense_R362C,Missense_R362C,Missense_R286C,Missense_R374C exm1533049 20 31383238 [A/G] NM_001207055,NM_006892,NM_175849,NM_175848,NM_001207056,NM_175850 DNMT3B,DNMT3B,DNMT3B,DNMT3B,DNMT3B,DNMT3B EXON Missense_A322T,Missense_A384T,Missense_A364T,Missense_A364T,Missense_A288T,Missense_A376T exm1533053 20 31383299 [A/G] NM_001207055,NM_006892,NM_175849,NM_175848,NM_001207056,NM_175850 DNMT3B,DNMT3B,DNMT3B,DNMT3B,DNMT3B,DNMT3B EXON Missense_Y342C,Missense_Y404C,Missense_Y384C,Missense_Y384C,Missense_Y308C,Missense_Y396C exm1533056 20 31383307 [A/G] NM_001207055,NM_006892,NM_175849,NM_175848,NM_001207056,NM_175850 DNMT3B,DNMT3B,DNMT3B,DNMT3B,DNMT3B,DNMT3B EXON Missense_G345S,Missense_G407S,Missense_G387S,Missense_G387S,Missense_G311S,Missense_G399S exm1533064 20 31384597 [T/C] NM_001207055,NM_006892,NM_175849,NM_175848,NM_001207056,NM_175850 DNMT3B,DNMT3B,DNMT3B,DNMT3B,DNMT3B,DNMT3B EXON Synonymous_D371D,Synonymous_D433D,Synonymous_D413D,Synonymous_D413D,Synonymous_D337D,Synonymous_D425D exm1533081 20 31386313 [T/C] NM_001207055,NM_006892,NM_175849,NM_175848,NM_001207056,NM_175850 DNMT3B,DNMT3B,DNMT3B,DNMT3B,DNMT3B,DNMT3B EXON Missense_A451V,Missense_A513V,Missense_A493V,Missense_A493V,Missense_A417V,Missense_A505V exm1533085 20 31386366 [T/C] NM_001207055,NM_006892,NM_175849,NM_175848,NM_001207056,NM_175850 DNMT3B,DNMT3B,DNMT3B,DNMT3B,DNMT3B,DNMT3B EXON Missense_R469C,Missense_R531C,Missense_R511C,Missense_R511C,Missense_R435C,Missense_R523C exm1533096 20 31387959 [A/G] NM_001207055,NM_006892,NM_175849,NM_175848,NM_001207056,NM_175850 DNMT3B,DNMT3B,DNMT3B,DNMT3B,DNMT3B,DNMT3B EXON Missense_G525D,Missense_G587D,Missense_G567D,Missense_G567D,Missense_G491D,Missense_G579D exm2276890 20 31388071 [A/C] NM_001207055,NM_006892,NM_175849,NM_175848,NM_001207056,NM_175850 DNMT3B,DNMT3B,DNMT3B,DNMT3B,DNMT3B,DNMT3B EXON Nonsense_Y562X,Nonsense_Y624X,Nonsense_Y604X,Nonsense_Y604X,Nonsense_Y528X,Nonsense_Y616X exm1533141 20 31421567 [A/G] NM_012325 MAPRE1 EXON Missense_I56V exm1533142 20 31421568 [T/C] NM_012325 MAPRE1 EXON Missense_I56T exm1533169 20 31434428 [A/G] NM_012325 MAPRE1 EXON Missense_N201S exm1533306 20 31572990 [T/C] NM_080675 SUN5 EXON Missense_G300D exm1533307 20 31572993 [T/A] NM_080675 SUN5 Silent exm1533317 20 31573666 [T/C] NM_080675 SUN5 EXON Missense_R258H exm1533318 20 31573667 [A/G] NM_080675 SUN5 EXON Missense_R258C exm1533336 20 31583439 [T/C] NM_080675 SUN5 EXON Missense_A174T exm1533339 20 31583483 [T/C] NM_080675 SUN5 EXON Missense_R159Q exm1533346 20 31584131 [T/C] NM_080675 SUN5 EXON Missense_R142G exm1533347 20 31584136 [T/C] NM_080675 SUN5 EXON Missense_S140N exm1533352 20 31585457 [A/G] NM_080675 SUN5 EXON Missense_M126T exm1533353 20 31585476 [T/C] NM_080675 SUN5 EXON Missense_I120V exm1533375 20 31590686 [A/C] NM_080675 SUN5 EXON Missense_E39D exm1533376 20 31590708 [T/C] NM_080675 SUN5 EXON Missense_R32Q exm1533384 20 31596430 [T/A] NM_025227 BPIFB2 EXON Missense_V17E exm1533393 20 31596462 [T/C] NM_025227 BPIFB2 EXON Nonsense_R28X exm1533395 20 31596472 [A/T] NM_025227 BPIFB2 EXON Missense_K31M exm1533398 20 31598847 [A/G] NM_025227 BPIFB2 EXON Missense_A43T exm1533399 20 31598860 [A/G] NM_025227 BPIFB2 EXON Missense_R47Q exm1533401 20 31598908 [T/C] NM_025227 BPIFB2 EXON Missense_A63V exm1533409 20 31601644 [T/C] NM_025227 BPIFB2 EXON Missense_P113S exm1533414 20 31603253 [T/C] NM_025227 BPIFB2 EXON Missense_A156V exm1533418 20 31604885 [A/G] NM_025227 BPIFB2 EXON Missense_N185S exm1533421 20 31606076 [A/G] NM_025227 BPIFB2 EXON Missense_V197M exm1533425 20 31606098 [A/G] NM_025227 BPIFB2 EXON Missense_R204H exm1533430 20 31606510 [A/G] NM_025227 BPIFB2 EXON Missense_R246K exm1533437 20 31606884 [T/G] NM_025227 BPIFB2 EXON Missense_L291R exm1533438 20 31606907 [T/C] NM_025227 BPIFB2 EXON Missense_R299W exm1533439 20 31606908 [A/G] NM_025227 BPIFB2 EXON Missense_R299Q exm1962624 20 31607482 [A/C] NM_025227 BPIFB2 EXON Synonymous_R336R exm1533449 20 31607483 [A/G] NM_025227 BPIFB2 EXON Missense_R336Q exm1533452 20 31607551 [G/C] NM_025227 BPIFB2 EXON Missense_D359H exm1533467 20 31608388 [T/A] NM_025227 BPIFB2 EXON Missense_I397F exm1533472 20 31609099 [T/C] NM_025227 BPIFB2 EXON Missense_R403C exm2276711 20 31609100 [A/G] NM_025227 BPIFB2 EXON Missense_R403H exm2234258 20 31609111 [C/G] NM_025227 BPIFB2 EXON Missense_G407R exm1533485 20 31611154 [T/G] NM_025227 BPIFB2 EXON Missense_V448L exm1533488 20 31619500 [T/C] NM_174897 BPIFB6 EXON Missense_T16M exm1533489 20 31619515 [A/G] NM_174897 BPIFB6 EXON Missense_G21E exm1533491 20 31619527 [A/G] NM_174897 BPIFB6 EXON Missense_R25Q exm1533497 20 31622005 [A/G] NM_174897 BPIFB6 EXON Missense_D71N exm1533502 20 31622083 [A/G] NM_174897 BPIFB6 EXON Missense_V97I exm1533503 20 31622097 [A/G] NM_174897 BPIFB6 Silent exm1533505 20 31622582 [A/G] NM_174897 BPIFB6 EXON Missense_N106D exm1533507 20 31622657 [A/G] NM_174897 BPIFB6 EXON Missense_V131M exm1533510 20 31622711 [A/C] NM_174897 BPIFB6 EXON Missense_P149T exm1533514 20 31622900 [A/G] NM_174897 BPIFB6 EXON Missense_M156V exm2272891 20 31623170 [T/C] NM_174897 BPIFB6 Silent exm1533521 20 31624252 [A/C] NM_174897 BPIFB6 EXON Missense_D193E exm1533523 20 31624280 [A/G] NM_174897 BPIFB6 EXON Missense_V203I exm1533525 20 31624301 [A/G] NM_174897 BPIFB6 EXON Missense_A210T exm-IND20-31089154 20 31625494 [D/I] NM_174897 BPIFB6 EXON exm1533544 20 31626754 [T/C] NM_174897 BPIFB6 EXON Missense_R296C exm1533553 20 31627276 [A/G] NM_174897 BPIFB6 EXON Missense_A342T exm1533558 20 31627291 [A/G] NM_174897 BPIFB6 EXON Missense_S347G exm1533560 20 31627297 [A/G] NM_174897 BPIFB6 EXON Missense_A349T exm1533566 20 31628100 [T/A] NM_174897 BPIFB6 EXON Missense_L373Q exm1533568 20 31629793 [A/G] NM_174897 BPIFB6 EXON Missense_R387Q exm1533571 20 31630646 [A/C] NM_174897 BPIFB6 EXON Missense_T405N exm1533579 20 31631146 [A/C] NM_174897 BPIFB6 EXON Nonsense_Y434X exm1533584 20 31631848 [A/G] NM_174897 BPIFB6 EXON Missense_G453S exm1533593 20 31643355 [T/C] NM_182658 BPIFB3 Silent exm1533601 20 31644401 [T/G] NM_182658 BPIFB3 EXON Missense_V60F exm1533603 20 31644419 [T/G] NM_182658 BPIFB3 EXON Missense_G66C exm1533615 20 31647276 [T/G] NM_182658 BPIFB3 EXON Missense_M125R exm1533627 20 31647807 [T/C] NM_182658 BPIFB3 EXON Missense_T166M exm1533632 20 31649602 [A/G] NM_182658 BPIFB3 EXON Missense_V186M exm1533633 20 31649627 [T/A] NM_182658 BPIFB3 EXON Missense_L194H exm1533641 20 31651472 [T/G] NM_182658 BPIFB3 EXON Missense_A215S exm1533644 20 31652292 [A/G] NM_182658 BPIFB3 EXON Missense_V228M exm1533645 20 31652315 [C/G] NM_182658 BPIFB3 EXON Missense_L235F exm1533648 20 31652478 [A/G] NM_182658 BPIFB3 EXON Missense_V251M exm1533649 20 31652507 [A/C] NM_182658 BPIFB3 EXON Missense_D260E exm2254224 20 31652513 [G/C] NM_182658 BPIFB3 EXON Synonymous_P262P exm1533652 20 31652538 [T/C] NM_182658 BPIFB3 EXON Missense_P271S exm1533654 20 31652596 [T/C] NM_182658 BPIFB3 EXON Missense_T290M exm1533659 20 31652622 [A/G] NM_182658 BPIFB3 EXON Missense_A299T exm1533660 20 31652628 [A/G] NM_182658 BPIFB3 EXON Missense_D301N exm1533661 20 31652641 [A/C] NM_182658 BPIFB3 EXON Missense_T305N exm1533671 20 31656613 [T/C] NM_182658 BPIFB3 EXON Missense_L328P exm1533672 20 31656632 [C/G] NM_182658 BPIFB3 EXON Missense_H334Q exm1533676 20 31656690 [A/G] NM_182658 BPIFB3 EXON Missense_K354E exm1533677 20 31656697 [A/C] NM_182658 BPIFB3 EXON Missense_A356D exm1533678 20 31656736 [A/G] NM_182658 BPIFB3 EXON Missense_Y369C exm1533681 20 31657725 [T/C] NM_182658 BPIFB3 EXON Missense_S394L exm1533686 20 31657763 [T/C] NM_182658 BPIFB3 Silent exm1533690 20 31659075 [A/G] NM_182658 BPIFB3 EXON Missense_A412T exm1533693 20 31659101 [T/C] NM_182658 BPIFB3 EXON Synonymous_D420D exm1533694 20 31659102 [A/G] NM_182658 BPIFB3 Silent exm1533698 20 31659917 [A/G] NM_182658 BPIFB3 EXON Missense_R423H exm1533708 20 31660543 [T/C] NM_182658 BPIFB3 EXON Missense_P449S exm1533709 20 31660601 [T/C] NM_182658 BPIFB3 Silent exm2254226 20 31661399 [T/C] NM_182658 BPIFB3 EXON Synonymous_T473T exm1533734 20 31671181 [A/G] NM_182519 BPIFB4 EXON Missense_D60N exm1533736 20 31671209 [G/C] NM_182519 BPIFB4 EXON Missense_R69P exm1533737 20 31671214 [T/C] NM_182519 BPIFB4 EXON Missense_P71S exm1533740 20 31671221 [A/C] NM_182519 BPIFB4 EXON Missense_P73Q exm1533743 20 31671244 [T/C] NM_182519 BPIFB4 EXON Missense_L81F exm1533744 20 31671245 [T/C] NM_182519 BPIFB4 EXON Missense_L81P exm1533756 20 31671398 [A/G] NM_182519 BPIFB4 EXON Missense_G132D exm1533761 20 31671449 [A/G] NM_182519 BPIFB4 EXON Missense_R149Q exm1533763 20 31671497 [T/C] NM_182519 BPIFB4 EXON Missense_A165V exm1533766 20 31671541 [A/G] NM_182519 BPIFB4 EXON Missense_A180T exm1533770 20 31671575 [T/G] NM_182519 BPIFB4 EXON Missense_L191R exm1533772 20 31671577 [A/G] NM_182519 BPIFB4 EXON Missense_G192S exm2234264 20 31671580 [A/G] NM_182519 BPIFB4 EXON Missense_G193R exm1533774 20 31671599 [A/G] NM_182519 BPIFB4 EXON Missense_D199G exm1533775 20 31671619 [T/G] NM_182519 BPIFB4 EXON Missense_G206W exm1533786 20 31672726 [T/C] NM_182519 BPIFB4 EXON Missense_R236W exm1533798 20 31673846 [A/G] NM_182519 BPIFB4 EXON Missense_I268V exm1533801 20 31673875 [C/G] NM_182519 BPIFB4 EXON Missense_K277N exm1533804 20 31673898 [T/C] NM_182519 BPIFB4 EXON Missense_T285M exm1533806 20 31673910 [A/G] NM_182519 BPIFB4 EXON Missense_R289Q exm1533811 20 31673969 [A/G] NM_182519 BPIFB4 EXON Missense_G309R exm1533823 20 31676772 [A/G] NM_182519 BPIFB4 EXON Synonymous_G309G exm1533828 20 31676804 [A/C] NM_182519 BPIFB4 EXON Missense_N320T exm1533839 20 31680279 [A/G] NM_182519 BPIFB4 EXON Missense_A387T exm1533841 20 31680288 [A/G] NM_182519 BPIFB4 EXON Missense_G390R exm1533848 20 31680334 [T/C] NM_182519 BPIFB4 EXON Missense_P405L exm1533862 20 31685439 [T/C] NM_182519 BPIFB4 EXON Missense_P472L exm1533863 20 31685453 [T/C] NM_182519 BPIFB4 EXON Missense_L477F exm1533864 20 31685493 [T/C] NM_182519 BPIFB4 EXON Missense_M490T exm1533875 20 31688241 [T/C] NM_182519 BPIFB4 EXON Missense_F527L exm1533877 20 31688260 [T/C] NM_182519 BPIFB4 EXON Missense_T533I exm1533878 20 31688278 [A/T] NM_182519 BPIFB4 EXON Missense_M539K exm1533889 20 31692622 [T/C] NM_182519 BPIFB4 EXON Missense_L563F exm1533890 20 31692627 [A/G] NM_182519 BPIFB4 EXON Missense_M564I exm1533892 20 31692637 [G/C] NM_182519 BPIFB4 EXON Missense_V568L exm1533897 20 31695550 [T/C] NM_182519 BPIFB4 EXON Missense_A582V exm1533899 20 31695593 [C/G] NM_182519 BPIFB4 EXON Missense_I596M exm1962768 20 31695618 [A/G] NM_182519 BPIFB4 EXON Missense_V605M exm1533916 20 31757078 [A/G] NM_080574 BPIFA2 EXON Missense_G43R exm1533917 20 31757102 [G/C] NM_080574 BPIFA2 EXON Missense_L51V exm1533925 20 31760777 [A/G] NM_080574 BPIFA2 EXON Missense_Q66R exm2276841 20 31761885 [A/G] NM_080574 BPIFA2 EXON Synonymous_G101G exm1533933 20 31761919 [A/G] NM_080574 BPIFA2 EXON Missense_K113E exm1533945 20 31763325 [A/G] NM_080574 BPIFA2 EXON Missense_A175T exm1533946 20 31763343 [A/C] NM_080574 BPIFA2 EXON Missense_I181L exm1533949 20 31765978 [T/G] NM_080574 BPIFA2 EXON Missense_V197L exm1533954 20 31767425 [T/C] NM_080574 BPIFA2 EXON Missense_R221C exm1533957 20 31767461 [T/C] NM_080574 BPIFA2 EXON Nonsense_Q233X exm1533958 20 31767470 [G/C] NM_080574 BPIFA2 EXON Missense_V236L exm1533959 20 31767473 [A/G] NM_080574 BPIFA2 EXON Missense_D237N exm1533989 20 31805408 [A/C] NM_178466,NM_001042439 BPIFA3,BPIFA3 EXON Missense_H22Q,Missense_H22Q exm1533992 20 31805464 [A/C] NM_178466,NM_001042439 BPIFA3,BPIFA3 EXON Missense_A41E,Missense_A41E exm1533993 20 31811616 [T/G] NM_178466,NM_001042439 BPIFA3,BPIFA3 Silent,Silent exm1533998 20 31811747 [A/C] NM_178466,NM_001042439 BPIFA3,BPIFA3 EXON Missense_H86Q,Missense_H86Q exm1533999 20 31811749 [A/G] NM_178466,NM_001042439 BPIFA3,BPIFA3 EXON Missense_Q87R,Missense_Q87R exm1534002 20 31812206 [A/G] NM_178466,NM_001042439 BPIFA3,BPIFA3 EXON Missense_I108M,Silent exm1534003 20 31812208 [A/C] NM_178466,NM_001042439 BPIFA3,BPIFA3 EXON Nonsense_S109X,Silent exm1534012 20 31812911 [A/G] NM_178466,NM_001042439 BPIFA3,BPIFA3 EXON Missense_D132N,Missense_D96N exm1534014 20 31812923 [A/G] NM_178466,NM_001042439 BPIFA3,BPIFA3 EXON Missense_V136I,Missense_V100I exm1534019 20 31812986 [T/C] NM_178466,NM_001042439 BPIFA3,BPIFA3 EXON Missense_R157W,Missense_R121W exm1534020 20 31813012 [A/C] NM_178466,NM_001042439 BPIFA3,BPIFA3 EXON Nonsense_C165X,Nonsense_C129X exm1534021 20 31813013 [A/G] NM_178466,NM_001042439 BPIFA3,BPIFA3 EXON Missense_D166N,Missense_D130N exm1534030 20 31814277 [T/C] NM_178466,NM_001042439 BPIFA3,BPIFA3 EXON Missense_P201L,Missense_P165L exm1534033 20 31814734 [A/G] NM_178466,NM_001042439 BPIFA3,BPIFA3 Silent,Silent exm1962835 20 31814763 [T/G] NM_178466,NM_001042439 BPIFA3,BPIFA3 EXON Missense_G217W,Missense_G181W exm1534040 20 31815358 [T/C] NM_178466,NM_001042439 BPIFA3,BPIFA3 EXON Missense_H234Y,Missense_H198Y exm1534045 20 31825571 [A/G] NM_130852,NM_016583,NM_001243193 BPIFA1,BPIFA1,BPIFA1 EXON Missense_M18I,Missense_M18I,Missense_M18I exm1534054 20 31825926 [A/G] NM_130852,NM_016583,NM_001243193 BPIFA1,BPIFA1,BPIFA1 EXON Missense_I76V,Missense_I76V,Missense_I76V exm1534059 20 31826009 [G/C] NM_130852,NM_016583,NM_001243193 BPIFA1,BPIFA1,BPIFA1 EXON Missense_N103K,Missense_N103K,Missense_N103K exm1534075 20 31828172 [A/C] NM_130852,NM_016583,NM_001243193 BPIFA1,BPIFA1,BPIFA1 EXON Missense_Q188K,Missense_Q188K,Missense_Q188K exm1534076 20 31828192 [G/C] NM_130852,NM_016583,NM_001243193 BPIFA1,BPIFA1,BPIFA1 Silent,Silent,Silent exm1534079 20 31829264 [A/G] NM_130852,NM_016583,NM_001243193 BPIFA1,BPIFA1,BPIFA1 EXON Missense_V219I,Missense_V219I,Missense_V219I exm1534080 20 31829276 [A/G] NM_130852,NM_016583,NM_001243193 BPIFA1,BPIFA1,BPIFA1 Silent,Silent,Silent exm1534098 20 31873994 [A/G] NM_033197 BPIFB1 EXON Missense_K39E exm1534099 20 31876547 [A/G] NM_033197 BPIFB1 EXON Missense_K39R exm1534104 20 31876616 [T/C] NM_033197 BPIFB1 EXON Missense_M62T exm1534109 20 31876681 [A/G] NM_033197 BPIFB1 EXON Missense_I84V exm1534110 20 31877713 [T/A] NM_033197 BPIFB1 EXON Missense_I94F exm1534112 20 31877770 [T/C] NM_033197 BPIFB1 EXON Missense_P113S exm1534113 20 31877799 [A/G] NM_033197 BPIFB1 Silent exm1534114 20 31878783 [T/C] NM_033197 BPIFB1 EXON Missense_V129A exm1534117 20 31878815 [A/G] NM_033197 BPIFB1 EXON Missense_T140A exm2276712 20 31878822 [A/G] NM_033197 BPIFB1 EXON Missense_R142H exm1534125 20 31878894 [A/G] NM_033197 BPIFB1 EXON Missense_R166H exm1534127 20 31879751 [T/C] NM_033197 BPIFB1 EXON Missense_M185T exm1534130 20 31885340 [A/G] NM_033197 BPIFB1 EXON Missense_V203M exm1534131 20 31885361 [A/G] NM_033197 BPIFB1 EXON Missense_G210S exm1534140 20 31889141 [A/G] NM_033197 BPIFB1 EXON Missense_V284M exm2277192 20 31889146 [T/G] NM_033197 BPIFB1 EXON Missense_S285R exm1534143 20 31889150 [G/C] NM_033197 BPIFB1 EXON Missense_D287H exm1534147 20 31889183 [T/C] NM_033197 BPIFB1 EXON Missense_S298P exm1534148 20 31890175 [T/G] NM_033197 BPIFB1 EXON Missense_S313I exm1534149 20 31890184 [A/G] NM_033197 BPIFB1 EXON Missense_R316Q exm1534150 20 31890201 [A/G] NM_033197 BPIFB1 EXON Missense_G322R exm1534152 20 31890752 [A/G] NM_033197 BPIFB1 EXON Missense_V338M exm1534153 20 31890765 [T/C] NM_033197 BPIFB1 EXON Missense_T342I exm1534168 20 31891800 [A/G] NM_033197 BPIFB1 EXON Missense_D393N exm1534180 20 31894789 [C/G] NM_033197 BPIFB1 EXON Missense_T464S exm1534181 20 31897515 [T/A] NM_033197 BPIFB1 EXON Missense_D466V exm2260926 20 31914031 [T/G] exm1534189 20 31946901 [T/C] NM_016408,NM_016082 CDK5RAP1,CDK5RAP1 EXON Missense_R571K,Missense_R481K exm1534191 20 31948186 [T/C] NM_016408,NM_016082 CDK5RAP1,CDK5RAP1 EXON Missense_A552T,Missense_A462T exm-rs291671 20 31950845 [A/G] NM_016408,NM_016082 CDK5RAP1,CDK5RAP1 Silent,Silent exm1534196 20 31954730 [A/G] NM_016408,NM_016082 CDK5RAP1,CDK5RAP1 EXON Nonsense_R493X,Nonsense_R403X exm1534197 20 31954735 [T/A] NM_016408,NM_016082 CDK5RAP1,CDK5RAP1 EXON Missense_I491N,Missense_I401N exm1534209 20 31958390 [A/G] NM_016408,NM_016082 CDK5RAP1,CDK5RAP1 EXON Missense_T436M,Missense_T346M exm1534219 20 31967337 [T/C] NM_016408,NM_016082 CDK5RAP1,CDK5RAP1 EXON Missense_Q346R,Missense_Q256R exm1534234 20 31973572 [T/C] NM_016408,NM_016082 CDK5RAP1,CDK5RAP1 EXON Missense_I254V,Missense_I164V exm1534238 20 31975188 [T/G] NM_016408,NM_016082 CDK5RAP1,CDK5RAP1 EXON Missense_D232E,Missense_D142E exm1534241 20 31975247 [A/G] NM_016408,NM_016082 CDK5RAP1,CDK5RAP1 EXON Missense_R213W,Missense_R123W exm1534242 20 31975282 [A/G] NM_016408,NM_016082 CDK5RAP1,CDK5RAP1 EXON Missense_I201T,Missense_I111T exm1534256 20 31984599 [A/G] NM_016408,NM_016082 CDK5RAP1,CDK5RAP1 EXON Missense_M91T,Missense_M1T exm1534257 20 31984605 [T/C] NM_016408,NM_016082 CDK5RAP1,CDK5RAP1 EXON Missense_Y89C,Silent exm2234271 20 31984644 [T/G] NM_016408,NM_016082 CDK5RAP1,CDK5RAP1 EXON Missense_Q76P,Silent exm1534260 20 31984648 [A/G] NM_016408,NM_016082 CDK5RAP1,CDK5RAP1 EXON Missense_P75S,Silent exm1534264 20 31984683 [A/G] NM_016408,NM_016082 CDK5RAP1,CDK5RAP1 EXON Missense_P63L,Silent exm1962929 20 31984787 [A/C] NM_016408,NM_016082 CDK5RAP1,CDK5RAP1 EXON Missense_R28S,Silent exm1534271 20 31984794 [A/G] NM_016408,NM_016082 CDK5RAP1,CDK5RAP1 EXON Missense_S26L,Silent exm1534286 20 31996544 [A/C] NM_003098 SNTA1 EXON Missense_L463R exm1534301 20 32000135 [T/C] NM_003098 SNTA1 EXON Missense_R336Q exm1534307 20 32000208 [T/G] NM_003098 SNTA1 EXON Missense_T312P exm1534313 20 32000232 [A/G] NM_003098 SNTA1 EXON Synonymous_L304L exm2234275 20 32000475 [A/G] NM_003098 SNTA1 EXON Missense_T272M exm1534320 20 32000503 [A/C] NM_003098 SNTA1 EXON Missense_A263S exm1534321 20 32000506 [T/G] NM_003098 SNTA1 EXON Missense_T262P exm1534324 20 32000520 [G/C] NM_003098 SNTA1 EXON Missense_A257G exm1962942 20 32000565 [T/C] NM_003098 SNTA1 EXON Missense_D242G exm1534328 20 32005549 [T/C] NM_003098 SNTA1 EXON Missense_C226Y exm1534330 20 32005607 [A/G] NM_003098 SNTA1 EXON Missense_R207W exm1534334 20 32005660 [A/G] NM_003098 SNTA1 EXON Missense_S189L exm1534341 20 32026703 [T/G] NM_003098 SNTA1 EXON Missense_T147N exm1534350 20 32026826 [T/C] NM_003098 SNTA1 EXON Missense_R106Q exm1534368 20 32162037 [A/G] NM_001032999,NM_005093,NM_001039709 CBFA2T2,CBFA2T2,CBFA2T2 EXON Silent,Missense_E11K,Silent exm1534371 20 32162067 [C/G] NM_001032999,NM_005093,NM_001039709 CBFA2T2,CBFA2T2,CBFA2T2 EXON Silent,Missense_V21L,Silent exm2234280 20 32198926 [T/C] NM_001032999,NM_005093,NM_001039709 CBFA2T2,CBFA2T2,CBFA2T2 EXON Missense_P69S,Missense_P78S,Missense_P49S exm1534398 20 32210974 [C/G] NM_001032999,NM_005093,NM_001039709 CBFA2T2,CBFA2T2,CBFA2T2 EXON Missense_K188N,Missense_K197N,Missense_K168N exm1534419 20 32212767 [A/G] NM_001032999,NM_005093,NM_001039709 CBFA2T2,CBFA2T2,CBFA2T2 EXON Missense_R297Q,Missense_R306Q,Missense_R277Q exm1534424 20 32217586 [A/G] NM_001032999,NM_005093,NM_001039709 CBFA2T2,CBFA2T2,CBFA2T2 EXON Missense_R365H,Missense_R374H,Missense_R345H exm1534437 20 32228315 [A/G] NM_001032999,NM_005093,NM_001039709 CBFA2T2,CBFA2T2,CBFA2T2 EXON Missense_N489S,Missense_N498S,Missense_N469S exm1534464 20 32245789 [T/C] NM_031232,NM_031231 NECAB3,NECAB3 EXON Missense_H374R,Missense_H340R exm1534468 20 32245838 [A/G] NM_031232,NM_031231 NECAB3,NECAB3 EXON Missense_H358Y,Missense_H324Y exm1534473 20 32246350 [T/G] NM_031232,NM_031231 NECAB3,NECAB3 EXON Missense_Q335K,Missense_Q301K exm1534474 20 32246571 [A/G] NM_031232,NM_031231 NECAB3,NECAB3 EXON Missense_R317C,Missense_R283C exm1534479 20 32246615 [A/C] NM_031232,NM_031231 NECAB3,NECAB3 EXON Missense_V302G,Missense_V268G exm1534483 20 32247421 [A/G] NM_031232,NM_031231 NECAB3,NECAB3 EXON Missense_P254L,Silent exm2234283 20 32247706 [T/C] NM_031232,NM_031231 NECAB3,NECAB3 EXON Missense_G210S,Missense_G210S exm1534503 20 32247776 [C/G] NM_031232,NM_031231 NECAB3,NECAB3 EXON Missense_R186S,Missense_R186S exm1534520 20 32248195 [C/G] NM_031232,NM_031231 NECAB3,NECAB3 EXON Missense_E132Q,Missense_E132Q exm1534522 20 32250185 [T/G] NM_031232,NM_031231,NM_080825 NECAB3,NECAB3,C20orf144 EXON Silent,Silent,Missense_A12S exm1534531 20 32251396 [A/G] NM_031232,NM_031231,NM_080825 NECAB3,NECAB3,C20orf144 EXON Silent,Silent,Missense_Q62R exm1534551 20 32255441 [A/C] NM_031232,NM_031231,NM_001024675 NECAB3,NECAB3,ACTL10 EXON Silent,Silent,Missense_N46K exm1534556 20 32255607 [A/C] NM_031232,NM_031231,NM_001024675 NECAB3,NECAB3,ACTL10 EXON Silent,Silent,Missense_H102N exm1534557 20 32255643 [A/G] NM_031232,NM_031231,NM_001024675 NECAB3,NECAB3,ACTL10 EXON Silent,Silent,Missense_V114I exm1534566 20 32255934 [A/T] NM_031232,NM_031231,NM_001024675 NECAB3,NECAB3,ACTL10 EXON Silent,Silent,Missense_T211S exm1534572 20 32257204 [T/C] NM_031232,NM_031231 NECAB3,NECAB3 EXON Missense_A122T,Missense_A122T exm1534575 20 32257245 [A/G] NM_031232,NM_031231 NECAB3,NECAB3 EXON Missense_P108L,Missense_P108L exm1534580 20 32260221 [T/C] NM_031232,NM_031231 NECAB3,NECAB3 EXON Missense_R46H,Missense_R46H exm2254229 20 32264715 [T/C] NM_005225 E2F1 EXON Synonymous_A379A exm1534602 20 32264974 [G/C] NM_005225 E2F1 EXON Missense_P335A exm1534604 20 32265009 [T/C] NM_005225 E2F1 EXON Missense_R323K exm1534605 20 32265045 [T/G] NM_005225 E2F1 EXON Missense_T311N exm1534609 20 32265246 [T/C] NM_005225 E2F1 EXON Missense_V276M exm2268288 20 32265513 [A/G] NM_005225 E2F1 Silent exm1534613 20 32266042 [A/C] NM_005225 E2F1 EXON Missense_Q230H exm1534614 20 32266060 [T/C] NM_005225 E2F1 EXON Missense_M224I exm1534616 20 32266097 [T/A] NM_005225 E2F1 EXON Missense_Q212L exm1534618 20 32266134 [T/C] NM_005225 E2F1 EXON Missense_G200S exm1534631 20 32268180 [T/C] NM_005225 E2F1 EXON Missense_A102T exm1534639 20 32295525 [T/C] NM_007238,NM_183397 PXMP4,PXMP4 EXON Missense_R209H,Silent exm1534640 20 32295541 [T/C] NM_007238,NM_183397 PXMP4,PXMP4 EXON Missense_V204I,Silent exm1534641 20 32295568 [T/C] NM_007238,NM_183397 PXMP4,PXMP4 EXON Missense_V195I,Silent exm1534647 20 32295664 [A/C] NM_007238,NM_183397 PXMP4,PXMP4 EXON Missense_V163L,Silent exm1534651 20 32295687 [A/G] NM_007238,NM_183397 PXMP4,PXMP4 EXON Missense_P155L,Silent exm1963127 20 32295716 [G/C] NM_007238,NM_183397 PXMP4,PXMP4 EXON Missense_K145N,Silent exm1534654 20 32295752 [A/G] NM_007238,NM_183397 PXMP4,PXMP4 EXON Synonymous_R133R,Missense_A67V exm1534667 20 32302511 [C/G] NM_007238,NM_183397 PXMP4,PXMP4 EXON Missense_L49V,Missense_L49V exm1534674 20 32307977 [G/C] NM_007238,NM_183397 PXMP4,PXMP4 EXON Missense_V13L,Missense_V13L exm1534675 20 32308001 [A/G] NM_007238,NM_183397 PXMP4,PXMP4 EXON Missense_P5S,Missense_P5S exm1534676 20 32308006 [G/C] NM_007238,NM_183397 PXMP4,PXMP4 EXON Missense_A3G,Missense_A3G exm1534688 20 32328797 [T/C] NM_032819 ZNF341 EXON Missense_P41S exm1534694 20 32333010 [A/G] NM_032819 ZNF341 EXON Missense_A82T exm-rs7274811 20 32333181 [T/G] NM_032819 ZNF341 Silent exm1534708 20 32336868 [T/C] NM_032819 ZNF341 EXON Missense_P160L exm1534717 20 32341041 [T/C] NM_032819 ZNF341 EXON Missense_P185S exm1534730 20 32345071 [T/G] NM_032819 ZNF341 EXON Missense_G287W exm1534737 20 32345105 [T/C] NM_032819 ZNF341 EXON Missense_T298M exm1534738 20 32345122 [A/G] NM_032819 ZNF341 EXON Missense_A304T exm1534747 20 32349796 [A/G] NM_032819 ZNF341 EXON Missense_R379Q exm1534750 20 32354675 [T/C] NM_032819 ZNF341 EXON Missense_P407L exm1534753 20 32354683 [T/C] NM_032819 ZNF341 EXON Missense_P410S exm1534757 20 32354801 [C/G] NM_032819 ZNF341 EXON Missense_T449S exm1534766 20 32358025 [A/G] NM_032819 ZNF341 EXON Missense_D510N exm1534807 20 32378875 [T/C] NM_032819 ZNF341 EXON Missense_T699M exm1534813 20 32378923 [A/G] NM_032819 ZNF341 EXON Missense_R715H exm1534831 20 32379168 [A/G] NM_032819 ZNF341 EXON Missense_V797I exm1534832 20 32379181 [T/C] NM_032819 ZNF341 EXON Missense_A801V exm1534833 20 32379189 [A/G] NM_032819 ZNF341 EXON Missense_A804T exm1534836 20 32379195 [A/C] NM_032819 ZNF341 EXON Missense_T806P exm1534851 20 32379300 [A/G] NM_032819 ZNF341 EXON Missense_V841I exm1534854 20 32379318 [A/G] NM_032819 ZNF341 EXON Missense_E847K exm1534889 20 32659935 [A/G] NM_007367,NM_016732 RALY,RALY EXON Missense_I19V,Missense_I19V exm1963235 20 32661434 [A/G] NM_007367,NM_016732 RALY,RALY EXON Missense_I108V,Missense_I108V exm1534901 20 32663717 [A/G] NM_007367,NM_016732 RALY,RALY EXON Missense_V123M,Missense_V139M exm1534917 20 32664601 [A/C] NM_007367,NM_016732 RALY,RALY EXON Missense_A197E,Missense_A213E exm1534934 20 32664917 [A/G] NM_007367,NM_016732 RALY,RALY EXON Missense_G232S,Missense_G248S exm1534939 20 32664926 [A/G] NM_007367,NM_016732 RALY,RALY EXON Missense_G235S,Missense_G251S exm1534974 20 32685225 [A/C] NM_003908 EIF2S2 EXON Missense_E177D exm1534977 20 32685262 [A/G] NM_003908 EIF2S2 EXON Missense_P165L exm-rs1015362 20 32738612 [T/C] exm2234297 20 32848218 [T/C] NM_001672 ASIP EXON Missense_V13A exm1534991 20 32848309 [A/C] NM_001672 ASIP EXON Missense_N43K exm1535000 20 32868878 [A/G] NM_001161766,NM_000687 AHCY,AHCY EXON Missense_C393R,Missense_C421R exm1535013 20 32873413 [A/G] NM_001161766,NM_000687 AHCY,AHCY EXON Missense_R306C,Missense_R334C exm1535016 20 32873434 [A/G] NM_001161766,NM_000687 AHCY,AHCY EXON Missense_R299W,Missense_R327W exm2260927 20 32877766 [T/C] NM_001161766,NM_000687 AHCY,AHCY Silent,Silent exm1535044 20 32880181 [T/C] NM_001161766,NM_000687 AHCY,AHCY EXON Missense_Y115C,Missense_Y143C exm1535048 20 32880242 [T/C] NM_001161766,NM_000687 AHCY,AHCY EXON Missense_G95R,Missense_G123R exm1535049 20 32880243 [G/C] NM_001161766,NM_000687 AHCY,AHCY EXON Missense_D94E,Missense_D122E exm1535052 20 32881902 [T/C] NM_001161766,NM_000687 AHCY,AHCY EXON Missense_K66E,Missense_K94E exm1535053 20 32881908 [T/C] NM_001161766,NM_000687 AHCY,AHCY EXON Missense_I64V,Missense_I92V exm2254231 20 32955423 [A/G] NM_001257138,NM_001257137,NM_031483 ITCH,ITCH,ITCH Silent,Silent,Silent exm1535104 20 32996559 [A/G] NM_001257138,NM_001257137,NM_031483 ITCH,ITCH,ITCH EXON Silent,Missense_N58S,Missense_N58S exm1535110 20 33000437 [A/G] NM_001257138,NM_001257137,NM_031483 ITCH,ITCH,ITCH EXON Silent,Missense_N110S,Missense_N110S exm1535111 20 33000444 [A/G] NM_001257138,NM_001257137,NM_031483 ITCH,ITCH,ITCH EXON Synonymous_K2K,Synonymous_K112K,Synonymous_K112K exm1535116 20 33001677 [A/G] NM_001257138,NM_001257137,NM_031483 ITCH,ITCH,ITCH EXON Missense_C46Y,Missense_C156Y,Missense_C156Y exm-rs1122174 20 33110846 [T/C] NM_014183 DYNLRB1 Silent exm1535194 20 33114098 [A/G] NM_014183 DYNLRB1 EXON Missense_R10Q exm-rs6088519 20 33132191 [T/C] exm1535244 20 33147698 [T/G] NM_181509,NM_032514 MAP1LC3A,MAP1LC3A EXON Missense_F125C,Missense_F121C exm1535256 20 33148734 [T/C] NM_080476 PIGU EXON Missense_Y415C exm1535260 20 33148758 [T/C] NM_080476 PIGU EXON Missense_Y407C exm1535264 20 33163012 [T/C] NM_080476 PIGU EXON Missense_V364I exm2234305 20 33163044 [T/C] NM_080476 PIGU EXON Missense_R353K exm1535269 20 33169373 [T/C] NM_080476 PIGU EXON Missense_V344M exm1535272 20 33169405 [T/C] NM_080476 PIGU EXON Missense_G333E exm-rs910873 20 33171772 [A/G] NM_080476 PIGU Silent exm1535281 20 33173299 [A/C] NM_080476 PIGU EXON Missense_V290L exm1535284 20 33176339 [G/C] NM_080476 PIGU EXON Missense_V234L exm1535299 20 33225704 [T/C] NM_080476 PIGU EXON Missense_Y135C exm1535310 20 33231978 [T/C] NM_080476 PIGU EXON Missense_N103S exm1535315 20 33245022 [A/C] NM_080476 PIGU EXON Missense_L53V exm2254232 20 33264865 [A/G] NM_080476 PIGU EXON Synonymous_L9L exm1535329 20 33296604 [T/C] NM_021202 TP53INP2 EXON Missense_C21R exm1535330 20 33296619 [T/G] NM_021202 TP53INP2 EXON Missense_V26L exm1535345 20 33297184 [T/G] NM_021202 TP53INP2 EXON Missense_R90L exm1535375 20 33320379 [T/C] NM_014071,NM_001242539 NCOA6,NCOA6 EXON Missense_I1995V,Missense_I1002V exm1535385 20 33328244 [T/C] NM_014071,NM_001242539 NCOA6,NCOA6 EXON Missense_G1939D,Silent exm2275144 20 33328322 [C/G] NM_014071,NM_001242539 NCOA6,NCOA6 EXON Missense_S1913T,Silent exm2234312 20 33328641 [A/G] NM_014071,NM_001242539 NCOA6,NCOA6 EXON Missense_R1807W,Silent exm1535427 20 33329309 [T/C] NM_014071,NM_001242539 NCOA6,NCOA6 EXON Missense_S1584N,Silent exm1535439 20 33329547 [T/C] NM_014071,NM_001242539 NCOA6,NCOA6 EXON Missense_I1505V,Silent exm1535470 20 33330534 [T/C] NM_014071,NM_001242539 NCOA6,NCOA6 EXON Missense_T1176A,Silent exm1535471 20 33330548 [A/G] NM_014071,NM_001242539 NCOA6,NCOA6 EXON Missense_S1171L,Silent exm1535473 20 33330672 [T/C] NM_014071,NM_001242539 NCOA6,NCOA6 EXON Missense_A1130T,Silent exm1535498 20 33331117 [A/C] NM_014071,NM_001242539 NCOA6,NCOA6 EXON Missense_R981S,Silent exm1535500 20 33334619 [T/C] NM_014071,NM_001242539 NCOA6,NCOA6 EXON Missense_R969Q,Missense_R969Q exm1535503 20 33334661 [T/C] NM_014071,NM_001242539 NCOA6,NCOA6 EXON Missense_N955S,Missense_N955S exm1535505 20 33334731 [T/G] NM_014071,NM_001242539 NCOA6,NCOA6 EXON Missense_T932P,Missense_T932P exm1963455 20 33337396 [A/C] NM_014071,NM_001242539 NCOA6,NCOA6 EXON Missense_C868G,Missense_C868G exm1535517 20 33337456 [T/C] NM_014071,NM_001242539 NCOA6,NCOA6 EXON Missense_G848S,Missense_G848S exm2276713 20 33337702 [A/T] NM_014071,NM_001242539 NCOA6,NCOA6 EXON Missense_M766L,Missense_M766L exm1535529 20 33337780 [G/C] NM_014071,NM_001242539 NCOA6,NCOA6 EXON Missense_P740A,Missense_P740A exm1535534 20 33337920 [A/G] NM_014071,NM_001242539 NCOA6,NCOA6 EXON Missense_A693V,Missense_A693V exm1535538 20 33338001 [A/G] NM_014071,NM_001242539 NCOA6,NCOA6 EXON Missense_P666L,Missense_P666L exm1535560 20 33342629 [C/G] NM_014071,NM_001242539 NCOA6,NCOA6 EXON Missense_A524G,Missense_A524G exm1535562 20 33345116 [T/C] NM_014071,NM_001242539 NCOA6,NCOA6 EXON Missense_M479V,Missense_M479V exm1535573 20 33345438 [T/G] NM_014071,NM_001242539 NCOA6,NCOA6 EXON Missense_H371Q,Missense_H371Q exm1963473 20 33345835 [C/G] NM_014071,NM_001242539 NCOA6,NCOA6 EXON Missense_P239R,Missense_P239R exm1535596 20 33346625 [A/C] NM_014071,NM_001242539 NCOA6,NCOA6 EXON Missense_R209L,Missense_R209L exm1535598 20 33346652 [T/C] NM_014071,NM_001242539 NCOA6,NCOA6 EXON Missense_N200S,Missense_N200S exm1535600 20 33346695 [A/G] NM_014071,NM_001242539 NCOA6,NCOA6 EXON Missense_P186S,Missense_P186S exm1535603 20 33346718 [T/G] NM_014071,NM_001242539 NCOA6,NCOA6 EXON Missense_N178T,Missense_N178T exm1535605 20 33356273 [T/C] NM_014071,NM_001242539 NCOA6,NCOA6 EXON Missense_G170S,Missense_G170S exm1535607 20 33356353 [T/C] NM_014071,NM_001242539 NCOA6,NCOA6 EXON Missense_R143Q,Missense_R143Q exm1535608 20 33356388 [T/C] NM_014071,NM_001242539 NCOA6,NCOA6 EXON Synonymous_G131G,Synonymous_G131G exm1535619 20 33370005 [A/G] NM_014071,NM_001242539 NCOA6,NCOA6 EXON Missense_F52L,Missense_F52L exm-rs6088619 20 33411871 [A/G] NM_014071,NM_001242539 NCOA6,NCOA6 Silent,Silent exm1535631 20 33433286 [T/C] NM_178026 GGT7 EXON Missense_T612A exm1535641 20 33440034 [A/G] NM_178026 GGT7 EXON Missense_S504L exm1963514 20 33447262 [A/G] NM_178026 GGT7 EXON Missense_L333P exm1535666 20 33447314 [T/C] NM_178026 GGT7 EXON Missense_V316I exm1535669 20 33447341 [A/G] NM_178026 GGT7 EXON Missense_R307W exm1535678 20 33447437 [A/C] NM_178026 GGT7 EXON Missense_A275S exm1535689 20 33449333 [T/C] NM_178026 GGT7 EXON Missense_R197Q exm1535721 20 33470659 [T/C] NM_001242393,NM_001076552,NM_018677 ACSS2,ACSS2,ACSS2 EXON Silent,Missense_R81W,Missense_R81W exm2254235 20 33470694 [T/C] NM_001242393,NM_001076552,NM_018677 ACSS2,ACSS2,ACSS2 EXON Silent,Synonymous_F92F,Synonymous_F92F exm1535725 20 33470737 [C/G] NM_001242393,NM_001076552,NM_018677 ACSS2,ACSS2,ACSS2 EXON Missense_V12L,Missense_V107L,Missense_V107L exm1535726 20 33470773 [T/G] NM_001242393,NM_001076552,NM_018677 ACSS2,ACSS2,ACSS2 EXON Missense_D24Y,Missense_D119Y,Missense_D119Y exm2272892 20 33488771 [T/C] NM_001242393,NM_001076552,NM_018677 ACSS2,ACSS2,ACSS2 Silent,Silent,Silent exm1535728 20 33500907 [A/G] NM_001242393,NM_001076552,NM_018677 ACSS2,ACSS2,ACSS2 EXON Missense_N33S,Missense_N128S,Missense_N128S exm1535732 20 33501271 [T/C] NM_001242393,NM_001076552,NM_018677 ACSS2,ACSS2,ACSS2 EXON Missense_A86V,Missense_A181V,Missense_A181V exm1535735 20 33501946 [G/C] NM_001242393,NM_001076552,NM_018677 ACSS2,ACSS2,ACSS2 EXON Missense_D136H,Missense_D231H,Missense_D231H exm1535736 20 33501958 [A/C] NM_001242393,NM_001076552,NM_018677 ACSS2,ACSS2,ACSS2 EXON Missense_Q140K,Missense_Q235K,Missense_Q235K exm1535741 20 33502181 [A/G] NM_001242393,NM_001076552,NM_018677 ACSS2,ACSS2,ACSS2 EXON Missense_G164S,Missense_G259S,Missense_G259S exm1535743 20 33502196 [A/C] NM_001242393,NM_001076552,NM_018677 ACSS2,ACSS2,ACSS2 EXON Missense_T169P,Missense_T264P,Missense_T264P exm1535752 20 33507301 [A/T] NM_001242393,NM_001076552,NM_018677 ACSS2,ACSS2,ACSS2 EXON Missense_C205S,Missense_C313S,Missense_C300S exm1535753 20 33507304 [A/G] NM_001242393,NM_001076552,NM_018677 ACSS2,ACSS2,ACSS2 EXON Missense_E206K,Missense_E314K,Missense_E301K exm1535754 20 33507307 [T/C] NM_001242393,NM_001076552,NM_018677 ACSS2,ACSS2,ACSS2 EXON Missense_P207S,Missense_P315S,Missense_P302S exm2254236 20 33507324 [T/C] NM_001242393,NM_001076552,NM_018677 ACSS2,ACSS2,ACSS2 EXON Synonymous_A212A,Synonymous_A320A,Synonymous_A307A exm1535763 20 33508358 [T/C] NM_001242393,NM_001076552,NM_018677 ACSS2,ACSS2,ACSS2 EXON Missense_V235A,Missense_V343A,Missense_V330A exm1535765 20 33508378 [T/G] NM_001242393,NM_001076552,NM_018677 ACSS2,ACSS2,ACSS2 EXON Missense_V242L,Missense_V350L,Missense_V337L exm1535768 20 33508471 [A/G] NM_001242393,NM_001076552,NM_018677 ACSS2,ACSS2,ACSS2 EXON Missense_V273I,Missense_V381I,Missense_V368I exm1535786 20 33509608 [T/C] NM_001242393,NM_001076552,NM_018677 ACSS2,ACSS2,ACSS2 EXON Missense_V401A,Missense_V509A,Missense_V496A exm1535788 20 33509655 [A/G] NM_001242393,NM_001076552,NM_018677 ACSS2,ACSS2,ACSS2 EXON Missense_A417T,Missense_A525T,Missense_A512T exm1535794 20 33511162 [A/G] NM_001242393,NM_001076552,NM_018677 ACSS2,ACSS2,ACSS2 EXON Missense_V434I,Missense_V542I,Missense_V529I exm1535810 20 33513983 [C/G] NM_001242393,NM_001076552,NM_018677 ACSS2,ACSS2,ACSS2 EXON Missense_G506A,Missense_G614A,Missense_G601A exm1535823 20 33514997 [T/C] NM_001242393,NM_001076552,NM_018677 ACSS2,ACSS2,ACSS2 EXON Missense_R601C,Missense_R709C,Missense_R696C exm1535837 20 33517252 [T/C] NM_000178 GSS EXON Missense_R418Q exm1535840 20 33517379 [T/C] NM_000178 GSS EXON Missense_G376R exm1535855 20 33519783 [A/G] NM_000178 GSS EXON Missense_R330C exm1535856 20 33519798 [A/G] NM_000178 GSS EXON Missense_P325S exm1535859 20 33519814 [T/C] NM_000178 GSS EXON Missense_M319I exm1535860 20 33519830 [A/G] NM_000178 GSS EXON Missense_P314L exm1535875 20 33524624 [A/G] NM_000178 GSS EXON Nonsense_R237X exm2234324 20 33524626 [T/C] NM_000178 GSS EXON Missense_R236Q exm1535879 20 33524790 [T/G] NM_000178 GSS EXON Missense_R215S exm1535891 20 33529526 [T/C] NM_000178 GSS EXON Missense_G200S exm1535892 20 33529528 [T/C] NM_000178 GSS EXON Missense_Y199C exm1535899 20 33530387 [T/C] NM_000178 GSS EXON Missense_R132H exm1535903 20 33530780 [T/C] NM_000178 GSS EXON Missense_R102H exm2234326 20 33539591 [C/G] NM_000178 GSS EXON Missense_A22G exm1535978 20 33565466 [T/C] NM_020884 MYH7B EXON Missense_P13S exm1535981 20 33565755 [A/G] NM_020884 MYH7B EXON Missense_A25T exm1535985 20 33565890 [A/C] NM_020884 MYH7B EXON Missense_P70T exm1963590 20 33567219 [A/G] NM_020884 MYH7B EXON Missense_E82K exm1535992 20 33567299 [T/G] NM_020884 MYH7B EXON Missense_K108N exm1535994 20 33567464 [A/G] NM_020884 MYH7B EXON Missense_V109M exm1963607 20 33570345 [T/C] NM_020884 MYH7B EXON Missense_P246L exm1536029 20 33572514 [T/C] NM_020884 MYH7B EXON Missense_T257M exm1536046 20 33573947 [T/C] NM_020884 MYH7B EXON Missense_R326C exm1536054 20 33574751 [A/G] NM_020884 MYH7B EXON Missense_V365M exm1536059 20 33574773 [A/G] NM_020884 MYH7B EXON Missense_E372G exm1536061 20 33574784 [A/G] NM_020884 MYH7B EXON Missense_A376T exm1536067 20 33575031 [T/G] NM_020884 MYH7B EXON Missense_G405V exm1536068 20 33575036 [A/G] NM_020884 MYH7B EXON Missense_M407V exm1536071 20 33575057 [T/C] NM_020884 MYH7B EXON Missense_R414W exm1536075 20 33575089 [A/G] NM_020884 MYH7B EXON Synonymous_E424E exm1536095 20 33575677 [A/T] NM_020884 MYH7B EXON Missense_F501Y exm1536096 20 33575689 [T/C] NM_020884 MYH7B EXON Missense_L505P exm1536101 20 33576021 [A/G] NM_020884 MYH7B EXON Missense_D557N exm1536108 20 33577626 [A/C] NM_020884 MYH7B EXON Missense_D599E exm1536111 20 33577679 [A/G] NM_020884 MYH7B EXON Missense_R617H exm1536117 20 33577869 [A/G] NM_020884 MYH7B EXON Missense_E649G exm1536144 20 33578918 [A/G] NM_020884 MYH7B EXON Missense_R768Q exm2234333 20 33580982 [A/G] NM_020884 MYH7B EXON Missense_G796D exm1536172 20 33581180 [A/G] NM_020884 MYH7B EXON Missense_R826H exm2254237 20 33581205 [A/G] NM_020884 MYH7B EXON Synonymous_L834L exm1536178 20 33581222 [A/G] NM_020884 MYH7B EXON Missense_R840Q exm1536179 20 33581233 [T/C] NM_020884 MYH7B EXON Missense_R844C exm1536186 20 33581971 [T/C] NM_020884 MYH7B EXON Missense_W865R exm1536187 20 33581993 [T/C] NM_020884 MYH7B EXON Missense_A872V exm1536190 20 33582046 [T/C] NM_020884 MYH7B EXON Missense_R890C exm1536194 20 33582133 [T/C] NM_020884 MYH7B EXON Missense_R919C exm1536199 20 33582199 [T/C] NM_020884 MYH7B EXON Nonsense_Q941X exm1536205 20 33583239 [A/G] NM_020884 MYH7B EXON Missense_E976G exm1536209 20 33583302 [T/C] NM_020884 MYH7B EXON Missense_T997M exm1536210 20 33583331 [A/G] NM_020884 MYH7B EXON Missense_K1007E exm1536216 20 33584197 [T/C] NM_020884 MYH7B EXON Missense_R1040W exm1536217 20 33584208 [T/G] NM_020884 MYH7B EXON Missense_K1043N exm1536222 20 33584248 [A/G] NM_020884 MYH7B EXON Missense_G1057S exm1536235 20 33584441 [A/G] NM_020884 MYH7B EXON Missense_K1091R exm1536238 20 33584465 [A/G] NM_020884 MYH7B EXON Missense_R1099Q exm1536240 20 33584501 [T/C] NM_020884 MYH7B EXON Missense_T1111M exm1536268 20 33586174 [A/G] NM_020884 MYH7B EXON Missense_R1317Q exm1536276 20 33586406 [T/C] NM_020884 MYH7B EXON Missense_R1365W exm1536285 20 33586699 [A/G] NM_020884 MYH7B EXON Missense_E1433K exm1536288 20 33586968 [A/G] NM_020884 MYH7B EXON Missense_D1476N exm2234336 20 33587062 [A/G] NM_020884 MYH7B EXON Missense_R1507Q exm1536298 20 33587198 [C/G] NM_020884 MYH7B EXON Missense_K1552N exm1536305 20 33587449 [T/C] NM_020884 MYH7B EXON Missense_A1581V exm1536318 20 33588185 [A/T] NM_020884 MYH7B EXON Missense_K1666M exm1536320 20 33588193 [A/G] NM_020884 MYH7B EXON Missense_G1669S exm1536324 20 33588263 [C/G] NM_020884 MYH7B EXON Missense_T1692R exm1536334 20 33588598 [A/C] NM_020884 MYH7B EXON Missense_K1778Q exm1536340 20 33588792 [T/C] NM_020884 MYH7B EXON Missense_A1811V exm1536346 20 33588858 [A/C] NM_020884 MYH7B EXON Missense_K1833T exm2234338 20 33588906 [T/C] NM_020884 MYH7B EXON Missense_A1849V exm1536356 20 33588953 [A/G] NM_020884 MYH7B EXON Missense_E1865K exm1536361 20 33589087 [A/C] NM_020884 MYH7B EXON Missense_K1881Q exm1536363 20 33589111 [A/G] NM_020884 MYH7B EXON Missense_V1889M exm1536372 20 33589328 [T/C] NM_020884 MYH7B EXON Missense_A1934V exm1536377 20 33589785 [A/G] NM_020884 MYH7B EXON Missense_R1946H exm1963736 20 33591013 [C/G] NM_015638,NM_199368 TRPC4AP,TRPC4AP EXON Missense_S777C,Missense_S769C exm1536395 20 33591034 [T/C] NM_015638,NM_199368 TRPC4AP,TRPC4AP EXON Missense_N770S,Missense_N762S exm1536401 20 33591284 [A/G] NM_015638,NM_199368 TRPC4AP,TRPC4AP EXON Missense_F729L,Missense_F721L exm1536418 20 33593524 [T/C] NM_015638,NM_199368 TRPC4AP,TRPC4AP EXON Missense_R637Q,Missense_R629Q exm1536425 20 33594363 [T/C] NM_015638,NM_199368 TRPC4AP,TRPC4AP EXON Missense_I568V,Missense_I560V exm1536453 20 33623039 [A/G] NM_015638,NM_199368 TRPC4AP,TRPC4AP EXON Missense_T313M,Missense_T313M exm1536457 20 33623110 [T/C] NM_015638,NM_199368 TRPC4AP,TRPC4AP EXON Synonymous_A289A,Synonymous_A289A exm1536464 20 33632466 [T/C] NM_015638,NM_199368 TRPC4AP,TRPC4AP EXON Missense_N236S,Missense_N236S exm1536482 20 33645346 [A/G] NM_015638,NM_199368 TRPC4AP,TRPC4AP EXON Missense_T148M,Missense_T148M exm1536487 20 33657147 [T/A] NM_015638,NM_199368 TRPC4AP,TRPC4AP EXON Missense_E122D,Missense_E122D exm1536494 20 33665958 [A/G] NM_015638,NM_199368 TRPC4AP,TRPC4AP EXON Missense_T63M,Missense_T63M exm1536507 20 33703317 [A/C] NR_026728,NM_001145025,NM_018217 EDEM2,EDEM2,EDEM2 EXON Silent,Missense_K515N,Missense_K552N exm1536508 20 33703381 [A/G] NR_026728,NM_001145025,NM_018217 EDEM2,EDEM2,EDEM2 EXON Silent,Missense_P494L,Missense_P531L exm1536510 20 33703408 [A/G] NR_026728,NM_001145025,NM_018217 EDEM2,EDEM2,EDEM2 EXON Silent,Missense_S485L,Missense_S522L exm1536512 20 33703444 [T/C] NR_026728,NM_001145025,NM_018217 EDEM2,EDEM2,EDEM2 EXON Silent,Missense_R473Q,Missense_R510Q exm1536519 20 33703607 [T/C] NR_026728,NM_001145025,NM_018217 EDEM2,EDEM2,EDEM2 EXON Silent,Missense_A419T,Missense_A456T exm1536527 20 33706486 [A/G] NR_026728,NM_001145025,NM_018217 EDEM2,EDEM2,EDEM2 EXON Silent,Missense_T347M,Missense_T384M exm1536535 20 33711821 [A/G] NR_026728,NM_001145025,NM_018217 EDEM2,EDEM2,EDEM2 EXON Silent,Missense_I292T,Missense_I329T exm1536537 20 33711831 [T/C] NR_026728,NM_001145025,NM_018217 EDEM2,EDEM2,EDEM2 EXON Silent,Missense_I289V,Missense_I326V exm1536539 20 33714148 [T/C] NR_026728,NM_001145025,NM_018217 EDEM2,EDEM2,EDEM2 EXON Silent,Missense_R255H,Missense_R292H exm1963808 20 33719520 [T/C] NR_026728,NM_001145025,NM_018217 EDEM2,EDEM2,EDEM2 EXON Silent,Missense_V220M,Missense_V257M exm1536549 20 33719543 [T/C] NR_026728,NM_001145025,NM_018217 EDEM2,EDEM2,EDEM2 EXON Silent,Missense_Q212R,Missense_Q249R exm1536551 20 33719583 [T/C] NR_026728,NM_001145025,NM_018217 EDEM2,EDEM2,EDEM2 EXON Silent,Missense_G199S,Missense_G236S exm2254239 20 33719584 [A/G] NR_026728,NM_001145025,NM_018217 EDEM2,EDEM2,EDEM2 EXON Silent,Synonymous_V198V,Synonymous_V235V exm1536559 20 33722610 [G/C] NR_026728,NM_001145025,NM_018217 EDEM2,EDEM2,EDEM2 EXON Silent,Missense_D174E,Missense_D211E exm1536564 20 33730188 [T/C] NR_026728,NM_001145025,NM_018217 EDEM2,EDEM2,EDEM2 EXON Silent,Missense_T81A,Missense_T118A exm-rs6120849 20 33730387 [T/C] NR_026728,NM_001145025,NM_018217 EDEM2,EDEM2,EDEM2 Silent,Silent,Silent exm2268290 20 33734493 [A/G] NR_026728,NM_001145025,NM_018217 EDEM2,EDEM2,EDEM2 Silent,Silent,Silent exm1536607 20 33762696 [T/C] NM_006404 PROCR EXON Missense_S88P exm1536608 20 33762713 [C/G] NM_006404 PROCR EXON Missense_F93L exm1536612 20 33762727 [T/G] NM_006404 PROCR EXON Missense_R98L exm1536618 20 33763985 [T/C] NM_006404 PROCR EXON Missense_R113C exm1536624 20 33764082 [T/C] NM_006404 PROCR EXON Missense_P145L exm1536630 20 33764166 [A/G] NM_006404 PROCR EXON Missense_R173H exm1536639 20 33764250 [T/G] NM_006404 PROCR Silent exm1536641 20 33764554 [A/G] NM_006404 PROCR EXON Missense_S219G exm1536646 20 33764606 [A/G] NM_006404 PROCR EXON Missense_R236Q exm1536661 20 33834686 [A/G] NM_006690 MMP24 EXON Missense_R97Q exm1536667 20 33834785 [T/C] NM_006690 MMP24 EXON Missense_T130M exm1536676 20 33842370 [T/G] NM_006690 MMP24 EXON Missense_E210D exm1536682 20 33842556 [T/C] NM_006690 MMP24 EXON Synonymous_D272D exm-rs1555322 20 33849179 [A/G] NM_006690 MMP24 Silent exm1536687 20 33855058 [A/G] NM_006690 MMP24 EXON Missense_V344I exm1536688 20 33855062 [A/G] NM_006690 MMP24 EXON Missense_R345H exm1536700 20 33859394 [T/G] NM_006690 MMP24 EXON Missense_K452N exm1536708 20 33862099 [A/G] NM_006690 MMP24 EXON Missense_R542Q exm1963867 20 33862155 [A/G] NM_006690 MMP24 EXON Missense_N561D exm1536711 20 33862165 [A/G] NM_006690 MMP24 EXON Missense_R564H exm2275145 20 33862204 [A/G] NM_006690 MMP24 EXON Missense_R577Q exm2254241 20 33862265 [A/G] NM_006690 MMP24 EXON Synonymous_P597P exm-rs619865 20 33867697 [A/G] NR_052023,NM_001267810,NM_181468,NM_181466,NR_052022,NM_002212,NR_052024 EIF6,EIF6,EIF6,EIF6,EIF6,EIF6,EIF6 Silent,Silent,Silent,Silent,Silent,Silent,Silent exm1536746 20 33867861 [A/C] NR_052023,NM_001267810,NM_181468,NM_181466,NR_052022,NM_002212,NR_052024 EIF6,EIF6,EIF6,EIF6,EIF6,EIF6,EIF6 EXON Silent,Missense_D144Y,Missense_D144Y,Missense_D125Y,Silent,Missense_D144Y,Silent exm1536761 20 33872076 [T/G] NR_052023,NM_001267810,NM_181468,NM_181466,NR_052022,NM_002212,NR_052024 EIF6,EIF6,EIF6,EIF6,EIF6,EIF6,EIF6 EXON Silent,Silent,Silent,Missense_H72P,Silent,Silent,Silent exm1536767 20 33872151 [A/C] NR_052023,NM_001267810,NM_181468,NM_181466,NR_052022,NM_002212,NR_052024 EIF6,EIF6,EIF6,EIF6,EIF6,EIF6,EIF6 EXON Silent,Silent,Silent,Missense_G47V,Silent,Silent,Silent exm1536769 20 33872167 [C/G] NR_052023,NM_001267810,NM_181468,NM_181466,NR_052022,NM_002212,NR_052024 EIF6,EIF6,EIF6,EIF6,EIF6,EIF6,EIF6 EXON Silent,Silent,Silent,Missense_G42R,Silent,Silent,Silent exm1536772 20 33872191 [A/G] NR_052023,NM_001267810,NM_181468,NM_181466,NR_052022,NM_002212,NR_052024 EIF6,EIF6,EIF6,EIF6,EIF6,EIF6,EIF6 EXON Silent,Missense_F34L,Missense_F34L,Missense_F34L,Silent,Missense_F34L,Silent exm1536775 20 33872215 [A/C] NR_052023,NM_001267810,NM_181468,NM_181466,NR_052022,NM_002212,NR_052024 EIF6,EIF6,EIF6,EIF6,EIF6,EIF6,EIF6 EXON Silent,Missense_V26L,Missense_V26L,Missense_V26L,Silent,Missense_V26L,Silent exm1536776 20 33872238 [T/C] NR_052023,NM_001267810,NM_181468,NM_181466,NR_052022,NM_002212,NR_052024 EIF6,EIF6,EIF6,EIF6,EIF6,EIF6,EIF6 EXON Silent,Missense_K18R,Missense_K18R,Missense_K18R,Silent,Missense_K18R,Silent exm1963887 20 33874346 [G/C] NM_178468 FAM83C EXON Missense_E746Q exm1536784 20 33874427 [A/G] NM_178468 FAM83C EXON Missense_R719W exm1536794 20 33874568 [A/G] NM_178468 FAM83C EXON Missense_R672W exm1536795 20 33874594 [C/G] NM_178468 FAM83C EXON Missense_A663G exm1963890 20 33874600 [T/C] NM_178468 FAM83C EXON Missense_R661H exm1536800 20 33874649 [A/G] NM_178468 FAM83C EXON Missense_R645C exm1536803 20 33874705 [T/C] NM_178468 FAM83C EXON Missense_R626Q exm1536808 20 33874745 [T/C] NM_178468 FAM83C EXON Missense_N613D exm1536810 20 33874784 [A/G] NM_178468 FAM83C EXON Missense_Y600H exm1536812 20 33874855 [C/G] NM_178468 FAM83C EXON Missense_G576A exm1536813 20 33874907 [A/G] NM_178468 FAM83C EXON Missense_S559P exm1536833 20 33875369 [A/G] NM_178468 FAM83C EXON Missense_S405P exm1536834 20 33875399 [A/G] NM_178468 FAM83C EXON Missense_H395Y exm1536836 20 33875402 [C/G] NM_178468 FAM83C EXON Missense_L394V exm1536845 20 33875492 [T/C] NM_178468 FAM83C EXON Missense_A364T exm1536850 20 33875566 [T/G] NM_178468 FAM83C EXON Missense_T339K exm1536864 20 33875698 [A/C] NM_178468 FAM83C EXON Missense_R295L exm1536870 20 33876333 [T/C] NM_178468 FAM83C EXON Missense_R246H exm1536871 20 33876337 [A/G] NM_178468 FAM83C EXON Missense_R245C exm1536876 20 33876688 [T/C] NM_178468 FAM83C EXON Missense_R196H exm1536881 20 33876761 [T/C] NM_178468 FAM83C EXON Missense_V172M exm1536892 20 33879708 [T/C] NM_178468 FAM83C EXON Missense_E134K exm1536898 20 33879821 [T/C] NM_178468 FAM83C EXON Missense_G96E exm1536902 20 33879866 [A/G] NM_178468 FAM83C EXON Missense_M81T exm1536903 20 33879867 [T/C] NM_178468 FAM83C EXON Missense_M81V exm1536905 20 33879905 [T/C] NM_178468 FAM83C EXON Missense_R68Q exm1536916 20 33891824 [T/C] NM_018244,NM_001184977,NM_199487 UQCC,UQCC,UQCC EXON Missense_E272K,Missense_E204K,Missense_E246K exm-rs6060369 20 33907161 [T/C] NM_018244,NM_001184977,NM_199487 UQCC,UQCC,UQCC Silent,Silent,Silent exm-rs6088792 20 33909784 [T/C] NM_018244,NM_001184977,NM_199487 UQCC,UQCC,UQCC Silent,Silent,Silent exm-rs6060373 20 33914208 [A/G] NM_018244,NM_001184977,NM_199487 UQCC,UQCC,UQCC Silent,Silent,Silent exm1536933 20 33934989 [T/C] NM_018244,NM_001184977,NM_199487 UQCC,UQCC,UQCC EXON Missense_Q184R,Missense_Q116R,Missense_Q184R exm1536935 20 33935044 [A/G] NM_018244,NM_001184977,NM_199487 UQCC,UQCC,UQCC EXON Missense_R166W,Missense_R98W,Missense_R166W exm1536950 20 33971876 [T/C] NM_018244,NM_001184977,NM_199487 UQCC,UQCC,UQCC EXON Missense_I64V,Silent,Missense_I64V exm1536954 20 33971914 [T/C] NM_018244,NM_001184977,NM_199487 UQCC,UQCC,UQCC EXON Missense_R51Q,Silent,Missense_R51Q exm-rs6088813 20 33975181 [A/C] NM_018244,NM_001184977,NM_199487 UQCC,UQCC,UQCC Silent,Silent,Silent exm1536958 20 33981906 [G/C] NM_018244,NM_001184977,NM_199487 UQCC,UQCC,UQCC EXON Missense_R40G,Missense_R40G,Missense_R40G exm1536961 20 33981987 [T/C] NM_018244,NM_001184977,NM_199487 UQCC,UQCC,UQCC EXON Missense_S13G,Missense_S13G,Missense_S13G exm1536964 20 33999741 [A/C] NM_018244,NM_001184977,NM_199487 UQCC,UQCC,UQCC Silent,Silent,Silent exm1536974 20 34022004 [A/C] NM_000557 GDF5 EXON Missense_K403N exm1536982 20 34022085 [A/C] NM_000557 GDF5 EXON Missense_Q376H exm2275146 20 34022260 [G/C] NM_000557 GDF5 EXON Missense_R318P exm1537001 20 34022387 [A/C] NM_000557 GDF5 EXON Missense_S276A exm1537009 20 34025165 [T/C] NM_000557 GDF5 EXON Missense_D182N exm1537012 20 34025212 [T/G] NM_000557 GDF5 EXON Missense_P166H exm1537020 20 34025321 [T/C] NM_000557 GDF5 EXON Missense_G130R exm1537022 20 34025360 [A/C] NM_000557 GDF5 EXON Missense_A117S exm1537023 20 34025362 [T/C] NM_000557 GDF5 EXON Missense_Q116R exm1537025 20 34025407 [A/G] NM_000557 GDF5 EXON Missense_P101L exm1537027 20 34025433 [T/A] NM_000557 GDF5 EXON Missense_D92E exm1537040 20 34025680 [A/G] NM_000557 GDF5 EXON Missense_L10S exm-rs143384 20 34025756 [A/G] NM_000557 GDF5 EXON Silent exm2268339 20 34025983 [A/G] NM_000557 GDF5 EXON Silent exm1537049 20 34050241 [A/C] NM_007186 CEP250 EXON Missense_Q17K exm1537057 20 34053571 [T/C] NM_007186 CEP250 EXON Missense_P83S exm1537068 20 34054019 [T/C] NM_007186 CEP250 EXON Missense_M161T exm1537069 20 34054790 [A/G] NM_007186 CEP250 Silent exm1537071 20 34054824 [T/C] NM_007186 CEP250 EXON Missense_R176C exm1537073 20 34054864 [A/G] NM_007186 CEP250 EXON Missense_R189H exm1963976 20 34055194 [A/G] NM_007186 CEP250 EXON Missense_R222H exm1537079 20 34055208 [A/G] NM_007186 CEP250 EXON Missense_A227T exm1537082 20 34057722 [A/G] NM_007186 CEP250 EXON Missense_E287K exm1537083 20 34057776 [A/G] NM_007186 CEP250 EXON Missense_M305V exm1537092 20 34059927 [T/C] NM_007186 CEP250 EXON Missense_A334V exm1963983 20 34060532 [C/G] NM_007186 CEP250 EXON Missense_G362A exm1537099 20 34060622 [A/G] NM_007186 CEP250 EXON Missense_R392H exm1537108 20 34061290 [C/G] NM_007186 CEP250 EXON Missense_R434T exm1537112 20 34061718 [G/C] NM_007186 CEP250 EXON Missense_A471G exm1537114 20 34061768 [T/C] NM_007186 CEP250 EXON Missense_R488C exm1537136 20 34064340 [T/C] NM_007186 CEP250 EXON Missense_R595W exm1537138 20 34064383 [T/C] NM_007186 CEP250 EXON Missense_A609V exm1537139 20 34064394 [T/G] NM_007186 CEP250 EXON Missense_V613F exm2234346 20 34064409 [A/C] NM_007186 CEP250 EXON Missense_Q618K exm1537141 20 34065738 [A/G] NM_007186 CEP250 EXON Missense_A636T exm1537150 20 34067081 [T/C] NM_007186 CEP250 EXON Missense_T707M exm1963999 20 34067170 [A/G] NM_007186 CEP250 EXON Missense_E737K exm1537154 20 34067210 [A/G] NM_007186 CEP250 EXON Missense_R750H exm1537156 20 34067227 [A/G] NM_007186 CEP250 EXON Missense_A756T exm1537163 20 34078517 [A/G] NM_007186 CEP250 EXON Missense_E881K exm1537165 20 34078545 [C/G] NM_007186 CEP250 EXON Missense_R890T exm1537169 20 34079058 [T/G] NM_007186 CEP250 EXON Missense_K925N exm2234348 20 34081351 [A/T] NM_007186 CEP250 EXON Missense_Q995H exm1537179 20 34082403 [T/G] NM_007186 CEP250 EXON Missense_V1029G exm1537184 20 34084452 [C/G] NM_007186 CEP250 EXON Missense_Q1072E exm1537186 20 34084494 [T/C] NM_007186 CEP250 EXON Missense_R1086C exm1537195 20 34085740 [T/G] NM_007186 CEP250 EXON Missense_A1167S exm1537197 20 34085764 [A/C] NM_007186 CEP250 EXON Missense_Q1175K exm1537199 20 34085845 [A/G] NM_007186 CEP250 EXON Missense_E1202K exm1537200 20 34085846 [A/T] NM_007186 CEP250 EXON Missense_E1202V exm1537208 20 34087899 [T/C] NM_007186 CEP250 EXON Nonsense_Q1267X exm1537217 20 34089740 [A/G] NM_007186 CEP250 EXON Missense_A1323T exm1537234 20 34090519 [A/G] NM_007186 CEP250 EXON Missense_R1441Q exm1537247 20 34090959 [C/G] NM_007186 CEP250 EXON Missense_V1588L exm1537256 20 34091224 [A/G] NM_007186 CEP250 EXON Missense_R1676Q exm1537258 20 34091287 [A/G] NM_007186 CEP250 EXON Missense_R1697Q exm1537268 20 34091694 [A/G] NM_007186 CEP250 EXON Missense_E1833K exm1537275 20 34091856 [A/G] NM_007186 CEP250 EXON Missense_E1887K exm1537279 20 34091995 [A/C] NM_007186 CEP250 EXON Missense_A1933E exm1537282 20 34092076 [A/G] NM_007186 CEP250 EXON Missense_R1960Q exm1964045 20 34092156 [T/C] NM_007186 CEP250 EXON Nonsense_Q1987X exm1537292 20 34092160 [T/C] NM_007186 CEP250 EXON Missense_A1988V exm1537293 20 34092171 [T/C] NM_007186 CEP250 EXON Missense_R1992C exm1537296 20 34092213 [A/G] NM_007186 CEP250 EXON Missense_D2006N exm1537302 20 34092354 [T/C] NM_007186 CEP250 EXON Missense_H2053Y exm1537303 20 34092358 [A/G] NM_007186 CEP250 EXON Missense_Q2054R exm1537307 20 34092408 [A/G] NM_007186 CEP250 EXON Missense_E2071K exm1537308 20 34092504 [G/C] NM_007186 CEP250 EXON Missense_L2103V exm1537309 20 34092555 [A/G] NM_007186 CEP250 EXON Missense_N2120D exm1537310 20 34092574 [T/C] NM_007186 CEP250 EXON Missense_P2126L exm1537311 20 34092577 [A/C] NM_007186 CEP250 EXON Missense_H2127P exm1537312 20 34092583 [A/G] NM_007186 CEP250 EXON Missense_H2129R exm1537315 20 34092614 [A/G] NM_007186 CEP250 EXON Synonymous_L2139L exm2254242 20 34092614 [A/G] NM_007186 CEP250 EXON Synonymous_L2139L exm1537323 20 34092739 [C/G] NM_007186 CEP250 EXON Missense_A2181G exm1537329 20 34092808 [A/G] NM_007186 CEP250 EXON Missense_R2204Q exm1537332 20 34095588 [T/C] NM_007186 CEP250 EXON Missense_R2220W exm1537340 20 34095954 [T/C] NM_007186 CEP250 EXON Missense_R2281W exm1537341 20 34095985 [A/G] NM_007186 CEP250 EXON Missense_R2291H exm1964052 20 34096832 [G/C] NM_007186 CEP250 EXON Missense_L2323V exm-rs2236164 20 34097353 [T/C] NM_007186 CEP250 Silent exm1537365 20 34116282 [T/C] NR_026933,NM_001145350 C20orf173,C20orf173 EXON Silent,Missense_K194E exm1537380 20 34116900 [A/C] NR_026933,NM_001145350 C20orf173,C20orf173 EXON Silent,Missense_W101C exm1537386 20 34117097 [A/G] NR_026933,NM_001145350 C20orf173,C20orf173 EXON Silent,Nonsense_R36X exm1537401 20 34130591 [A/G] NM_015966,NM_198398 ERGIC3,ERGIC3 EXON Missense_D90N,Missense_D90N exm1537409 20 34135165 [G/C] NM_015966,NM_198398 ERGIC3,ERGIC3 EXON Missense_L124V,Missense_L124V exm1537415 20 34135253 [T/C] NM_015966,NM_198398 ERGIC3,ERGIC3 EXON Missense_I153T,Missense_I153T exm1537422 20 34136617 [T/C] NM_015966,NM_198398 ERGIC3,ERGIC3 EXON Synonymous_H228H,Synonymous_H228H exm1537469 20 34203930 [A/G] NM_003116 SPAG4 EXON Missense_R2Q exm1537470 20 34203936 [A/G] NM_003116 SPAG4 EXON Missense_S4N exm1537476 20 34204160 [A/C] NM_003116 SPAG4 EXON Missense_K79Q exm1537479 20 34204198 [A/T] NM_003116 SPAG4 EXON Nonsense_C91X exm1537483 20 34205081 [T/C] NM_003116 SPAG4 EXON Missense_S110P exm1537487 20 34205133 [T/C] NM_003116 SPAG4 EXON Missense_P127L exm1537488 20 34205141 [T/C] NM_003116 SPAG4 EXON Missense_R130W exm1537499 20 34206009 [T/C] NM_003116 SPAG4 EXON Missense_A180V exm1537500 20 34206041 [T/C] NM_003116 SPAG4 EXON Missense_P191S exm1537512 20 34207168 [T/C] NM_003116 SPAG4 EXON Missense_T282I exm2254243 20 34207597 [T/C] NM_003116 SPAG4 EXON Synonymous_L336L exm1537523 20 34208670 [T/C] NM_003116 SPAG4 EXON Missense_S381L exm2254244 20 34208869 [A/G] NM_003116 SPAG4 EXON Synonymous_T413T exm1537536 20 34208937 [T/C] NM_003116 SPAG4 EXON Missense_P436L exm1537540 20 34214173 [A/G] NM_152926,NR_037188,NM_152925,NM_152928,NM_152927,NM_003915,NM_001198863 CPNE1,CPNE1,CPNE1,CPNE1,CPNE1,CPNE1,CPNE1 EXON Missense_P535L,Silent,Missense_P535L,Missense_P535L,Missense_P535L,Missense_P540L,Missense_P534L exm1537545 20 34214218 [C/G] NM_152926,NR_037188,NM_152925,NM_152928,NM_152927,NM_003915,NM_001198863 CPNE1,CPNE1,CPNE1,CPNE1,CPNE1,CPNE1,CPNE1 EXON Missense_P520R,Silent,Missense_P520R,Missense_P520R,Missense_P520R,Missense_P525R,Missense_P519R exm1537546 20 34214227 [A/C] NM_152926,NR_037188,NM_152925,NM_152928,NM_152927,NM_003915,NM_001198863 CPNE1,CPNE1,CPNE1,CPNE1,CPNE1,CPNE1,CPNE1 EXON Missense_G517V,Silent,Missense_G517V,Missense_G517V,Missense_G517V,Missense_G522V,Missense_G516V exm1537560 20 34214551 [A/G] NM_152926,NR_037188,NM_152925,NM_152928,NM_152927,NM_003915,NM_001198863 CPNE1,CPNE1,CPNE1,CPNE1,CPNE1,CPNE1,CPNE1 EXON Missense_R471C,Silent,Missense_R471C,Missense_R471C,Missense_R471C,Missense_R476C,Missense_R470C exm1537562 20 34214652 [T/C] NM_152926,NR_037188,NM_152925,NM_152928,NM_152927,NM_003915,NM_001198863 CPNE1,CPNE1,CPNE1,CPNE1,CPNE1,CPNE1,CPNE1 EXON Missense_R437H,Silent,Missense_R437H,Missense_R437H,Missense_R437H,Missense_R442H,Missense_R436H exm1537568 20 34214723 [T/C] NM_152926,NR_037188,NM_152925,NM_152928,NM_152927,NM_003915,NM_001198863 CPNE1,CPNE1,CPNE1,CPNE1,CPNE1,CPNE1,CPNE1 EXON Synonymous_Q413Q,Silent,Synonymous_Q413Q,Synonymous_Q413Q,Synonymous_Q413Q,Synonymous_Q418Q,Silent exm1537571 20 34215222 [T/C] NM_152926,NR_037188,NM_152925,NM_152928,NM_152927,NM_003915,NM_001198863 CPNE1,CPNE1,CPNE1,CPNE1,CPNE1,CPNE1,CPNE1 EXON Missense_A406T,Silent,Missense_A406T,Missense_A406T,Missense_A406T,Missense_A411T,Missense_A406T exm1537572 20 34215228 [C/G] NM_152926,NR_037188,NM_152925,NM_152928,NM_152927,NM_003915,NM_001198863 CPNE1,CPNE1,CPNE1,CPNE1,CPNE1,CPNE1,CPNE1 EXON Missense_Q404E,Silent,Missense_Q404E,Missense_Q404E,Missense_Q404E,Missense_Q409E,Missense_Q404E exm-IND20-33678648 20 34215235 [I/D] NM_152926,NR_037188,NM_152925,NM_152928,NM_152927,NM_003915,NM_001198863 CPNE1,CPNE1,CPNE1,CPNE1,CPNE1,CPNE1,CPNE1 EXON exm1537573 20 34215281 [T/C] NM_152926,NR_037188,NM_152925,NM_152928,NM_152927,NM_003915,NM_001198863 CPNE1,CPNE1,CPNE1,CPNE1,CPNE1,CPNE1,CPNE1 EXON Missense_Y386C,Silent,Missense_Y386C,Missense_Y386C,Missense_Y386C,Missense_Y391C,Missense_Y386C exm1537574 20 34215287 [T/C] NM_152926,NR_037188,NM_152925,NM_152928,NM_152927,NM_003915,NM_001198863 CPNE1,CPNE1,CPNE1,CPNE1,CPNE1,CPNE1,CPNE1 EXON Missense_R384H,Silent,Missense_R384H,Missense_R384H,Missense_R384H,Missense_R389H,Missense_R384H exm1537585 20 34218673 [C/G] NM_152926,NR_037188,NM_152925,NM_152928,NM_152927,NM_003915,NM_001198863 CPNE1,CPNE1,CPNE1,CPNE1,CPNE1,CPNE1,CPNE1 EXON Missense_P347R,Silent,Missense_P347R,Missense_P347R,Missense_P347R,Missense_P352R,Missense_P347R exm1537587 20 34218680 [A/C] NM_152926,NR_037188,NM_152925,NM_152928,NM_152927,NM_003915,NM_001198863 CPNE1,CPNE1,CPNE1,CPNE1,CPNE1,CPNE1,CPNE1 EXON Missense_V345F,Silent,Missense_V345F,Missense_V345F,Missense_V345F,Missense_V350F,Missense_V345F exm1537591 20 34218877 [T/C] NM_152926,NR_037188,NM_152925,NM_152928,NM_152927,NM_003915,NM_001198863 CPNE1,CPNE1,CPNE1,CPNE1,CPNE1,CPNE1,CPNE1 EXON Missense_N314S,Silent,Missense_N314S,Missense_N314S,Missense_N314S,Missense_N319S,Missense_N314S exm1537592 20 34218899 [A/G] NM_152926,NR_037188,NM_152925,NM_152928,NM_152927,NM_003915,NM_001198863 CPNE1,CPNE1,CPNE1,CPNE1,CPNE1,CPNE1,CPNE1 EXON Missense_Y307H,Silent,Missense_Y307H,Missense_Y307H,Missense_Y307H,Missense_Y312H,Missense_Y307H exm1537597 20 34219207 [A/G] NM_152926,NR_037188,NM_152925,NM_152928,NM_152927,NM_003915,NM_001198863 CPNE1,CPNE1,CPNE1,CPNE1,CPNE1,CPNE1,CPNE1 EXON Missense_R262C,Silent,Missense_R262C,Missense_R262C,Missense_R262C,Missense_R267C,Missense_R262C exm1537606 20 34219496 [T/C] NM_152926,NR_037188,NM_152925,NM_152928,NM_152927,NM_003915,NM_001198863 CPNE1,CPNE1,CPNE1,CPNE1,CPNE1,CPNE1,CPNE1 EXON Missense_Q211R,Silent,Missense_Q211R,Missense_Q211R,Missense_Q211R,Missense_Q216R,Missense_Q211R exm1537609 20 34219620 [A/G] NM_152926,NR_037188,NM_152925,NM_152928,NM_152927,NM_003915,NM_001198863 CPNE1,CPNE1,CPNE1,CPNE1,CPNE1,CPNE1,CPNE1 EXON Missense_T206I,Silent,Missense_T206I,Missense_T206I,Missense_T206I,Missense_T211I,Missense_T206I exm1537618 20 34220131 [T/C] NM_152926,NR_037188,NM_152925,NM_152928,NM_152927,NM_003915,NM_001198863 CPNE1,CPNE1,CPNE1,CPNE1,CPNE1,CPNE1,CPNE1 EXON Missense_N137S,Silent,Missense_N137S,Missense_N137S,Missense_N137S,Missense_N142S,Missense_N137S exm1537621 20 34220234 [A/G] NM_152926,NR_037188,NM_152925,NM_152928,NM_152927,NM_003915,NM_001198863 CPNE1,CPNE1,CPNE1,CPNE1,CPNE1,CPNE1,CPNE1 EXON Missense_T128M,Silent,Missense_T128M,Missense_T128M,Missense_T128M,Missense_T133M,Missense_T128M exm1537629 20 34220455 [T/C] NM_152926,NR_037188,NM_152925,NM_152928,NM_152927,NM_003915,NM_001198863 CPNE1,CPNE1,CPNE1,CPNE1,CPNE1,CPNE1,CPNE1 EXON Missense_E98G,Silent,Missense_E98G,Missense_E98G,Missense_E98G,Missense_E103G,Missense_E98G exm1537632 20 34220507 [T/C] NM_152926,NR_037188,NM_152925,NM_152928,NM_152927,NM_003915,NM_001198863 CPNE1,CPNE1,CPNE1,CPNE1,CPNE1,CPNE1,CPNE1 EXON Missense_I81V,Silent,Missense_I81V,Missense_I81V,Missense_I81V,Missense_I86V,Missense_I81V exm1537634 20 34220548 [T/C] NM_152926,NR_037188,NM_152925,NM_152928,NM_152927,NM_003915,NM_001198863 CPNE1,CPNE1,CPNE1,CPNE1,CPNE1,CPNE1,CPNE1 EXON Missense_R67H,Silent,Missense_R67H,Missense_R67H,Missense_R67H,Missense_R72H,Missense_R67H exm1537635 20 34220563 [A/C] NM_152926,NR_037188,NM_152925,NM_152928,NM_152927,NM_003915,NM_001198863 CPNE1,CPNE1,CPNE1,CPNE1,CPNE1,CPNE1,CPNE1 EXON Missense_L62R,Silent,Missense_L62R,Missense_L62R,Missense_L62R,Missense_L67R,Missense_L62R exm1537641 20 34220740 [T/C] NM_152926,NR_037188,NM_152925,NM_152928,NM_152927,NM_003915,NM_001198863 CPNE1,CPNE1,CPNE1,CPNE1,CPNE1,CPNE1,CPNE1 EXON Missense_V36M,Silent,Missense_V36M,Missense_V36M,Missense_V36M,Missense_V41M,Missense_V36M exm1537642 20 34220755 [T/C] NM_152926,NR_037188,NM_152925,NM_152928,NM_152927,NM_003915,NM_001198863 CPNE1,CPNE1,CPNE1,CPNE1,CPNE1,CPNE1,CPNE1 EXON Missense_V31I,Silent,Missense_V31I,Missense_V31I,Missense_V31I,Missense_V36I,Missense_V31I exm1537646 20 34240561 [A/G] NM_152926,NR_037188,NM_152925,NM_152928,NM_152927,NM_003915,NM_001198863,NM_001198838,NM_152838,NM_006047,NM_001198840 CPNE1,CPNE1,CPNE1,CPNE1,CPNE1,CPNE1,CPNE1,RBM12,RBM12,RBM12,RBM12 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_M895T,Missense_M895T,Missense_M895T,Missense_M895T exm1537663 20 34240957 [A/G] NM_152926,NR_037188,NM_152925,NM_152928,NM_152927,NM_003915,NM_001198863,NM_001198838,NM_152838,NM_006047,NM_001198840 CPNE1,CPNE1,CPNE1,CPNE1,CPNE1,CPNE1,CPNE1,RBM12,RBM12,RBM12,RBM12 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_P763L,Missense_P763L,Missense_P763L,Missense_P763L exm1537667 20 34241119 [C/G] NM_152926,NR_037188,NM_152925,NM_152928,NM_152927,NM_003915,NM_001198863,NM_001198838,NM_152838,NM_006047,NM_001198840 CPNE1,CPNE1,CPNE1,CPNE1,CPNE1,CPNE1,CPNE1,RBM12,RBM12,RBM12,RBM12 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_T709S,Missense_T709S,Missense_T709S,Missense_T709S exm1537679 20 34241281 [A/G] NM_152926,NR_037188,NM_152925,NM_152928,NM_152927,NM_003915,NM_001198863,NM_001198838,NM_152838,NM_006047,NM_001198840 CPNE1,CPNE1,CPNE1,CPNE1,CPNE1,CPNE1,CPNE1,RBM12,RBM12,RBM12,RBM12 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_A655V,Missense_A655V,Missense_A655V,Missense_A655V exm1537685 20 34241530 [T/C] NM_152926,NR_037188,NM_152925,NM_152928,NM_152927,NM_003915,NM_001198863,NM_001198838,NM_152838,NM_006047,NM_001198840 CPNE1,CPNE1,CPNE1,CPNE1,CPNE1,CPNE1,CPNE1,RBM12,RBM12,RBM12,RBM12 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_N572S,Missense_N572S,Missense_N572S,Missense_N572S exm1537694 20 34241794 [T/C] NM_152926,NR_037188,NM_152925,NM_152928,NM_152927,NM_003915,NM_001198863,NM_001198838,NM_152838,NM_006047,NM_001198840 CPNE1,CPNE1,CPNE1,CPNE1,CPNE1,CPNE1,CPNE1,RBM12,RBM12,RBM12,RBM12 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_Y484C,Missense_Y484C,Missense_Y484C,Missense_Y484C exm1537709 20 34242344 [A/G] NM_152926,NR_037188,NM_152925,NM_152928,NM_152927,NM_001198863,NM_001198838,NM_152838,NM_006047,NM_001198840 CPNE1,CPNE1,CPNE1,CPNE1,CPNE1,CPNE1,RBM12,RBM12,RBM12,RBM12 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_P301S,Missense_P301S,Missense_P301S,Missense_P301S exm1964169 20 34242499 [A/G] NM_152926,NR_037188,NM_152925,NM_152928,NM_152927,NM_001198863,NM_001198838,NM_152838,NM_006047,NM_001198840 CPNE1,CPNE1,CPNE1,CPNE1,CPNE1,CPNE1,RBM12,RBM12,RBM12,RBM12 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_P249L,Missense_P249L,Missense_P249L,Missense_P249L exm1537720 20 34242623 [T/C] NM_152926,NR_037188,NM_152925,NM_152928,NM_152927,NM_001198863,NM_001198838,NM_152838,NM_006047,NM_001198840 CPNE1,CPNE1,CPNE1,CPNE1,CPNE1,CPNE1,RBM12,RBM12,RBM12,RBM12 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_I208V,Missense_I208V,Missense_I208V,Missense_I208V exm1537724 20 34242668 [T/C] NM_152926,NR_037188,NM_152925,NM_152928,NM_152927,NM_001198863,NM_001198838,NM_152838,NM_006047,NM_001198840 CPNE1,CPNE1,CPNE1,CPNE1,CPNE1,CPNE1,RBM12,RBM12,RBM12,RBM12 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_I193V,Missense_I193V,Missense_I193V,Missense_I193V exm1537727 20 34242695 [T/C] NM_152926,NR_037188,NM_152925,NM_152928,NM_152927,NM_001198863,NM_001198838,NM_152838,NM_006047,NM_001198840 CPNE1,CPNE1,CPNE1,CPNE1,CPNE1,CPNE1,RBM12,RBM12,RBM12,RBM12 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_T184A,Missense_T184A,Missense_T184A,Missense_T184A exm1537729 20 34242725 [T/C] NM_152926,NR_037188,NM_152925,NM_152928,NM_152927,NM_001198863,NM_001198838,NM_152838,NM_006047,NM_001198840 CPNE1,CPNE1,CPNE1,CPNE1,CPNE1,CPNE1,RBM12,RBM12,RBM12,RBM12 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_T174A,Missense_T174A,Missense_T174A,Missense_T174A exm1537730 20 34242737 [T/C] NM_152926,NR_037188,NM_152925,NM_152928,NM_152927,NM_001198863,NM_001198838,NM_152838,NM_006047,NM_001198840 CPNE1,CPNE1,CPNE1,CPNE1,CPNE1,CPNE1,RBM12,RBM12,RBM12,RBM12 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_T170A,Missense_T170A,Missense_T170A,Missense_T170A exm1537732 20 34242782 [T/C] NM_152926,NR_037188,NM_152925,NM_152928,NM_152927,NM_001198863,NM_001198838,NM_152838,NM_006047,NM_001198840 CPNE1,CPNE1,CPNE1,CPNE1,CPNE1,CPNE1,RBM12,RBM12,RBM12,RBM12 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_V155I,Missense_V155I,Missense_V155I,Missense_V155I exm1964177 20 34257560 [T/C] NM_001198989,NM_021100,NR_037570 NFS1,NFS1,NFS1 EXON Missense_K402R,Missense_K453R,Silent exm1537752 20 34257566 [T/C] NM_001198989,NM_021100,NR_037570 NFS1,NFS1,NFS1 EXON Missense_S400N,Missense_S451N,Silent exm1537758 20 34261527 [T/C] NM_001198989,NM_021100,NR_037570 NFS1,NFS1,NFS1 EXON Missense_I355V,Missense_I406V,Silent exm1537774 20 34263104 [A/G] NM_001198989,NM_021100,NR_037570 NFS1,NFS1,NFS1 EXON Missense_R220C,Missense_R271C,Silent exm1537776 20 34268711 [A/G] NM_001198989,NM_021100,NR_037570 NFS1,NFS1,NFS1 EXON Synonymous_D195D,Synonymous_D246D,Silent exm1537782 20 34269852 [T/C] NM_001198989,NM_021100,NR_037570 NFS1,NFS1,NFS1 EXON Missense_V154M,Missense_V205M,Silent exm1537786 20 34278459 [T/C] NM_001198989,NM_021100,NR_037570 NFS1,NFS1,NFS1 EXON Silent,Missense_K146R,Silent exm1537795 20 34285637 [T/C] NM_001198989,NM_021100,NR_037570 NFS1,NFS1,NFS1 EXON Missense_E98G,Missense_E98G,Silent exm1537809 20 34287564 [A/G] NM_080748 ROMO1 EXON Missense_A4T exm1537810 20 34287579 [A/G] NM_080748 ROMO1 EXON Missense_G9R exm1537850 20 34312981 [T/C] NM_004902,NM_001242599,NM_001242600,NM_184234,NR_040724,NR_040723,NR_040722 RBM39,RBM39,RBM39,RBM39,RBM39,RBM39,RBM39 EXON Synonymous_E171E,Synonymous_E149E,Synonymous_E149E,Synonymous_E171E,Silent,Silent,Silent exm1537854 20 34317287 [A/G] NM_004902,NM_001242599,NM_001242600,NM_184234,NR_040724,NR_040723,NR_040722 RBM39,RBM39,RBM39,RBM39,RBM39,RBM39,RBM39 EXON Synonymous_S121S,Synonymous_Y99Y,Synonymous_Y99Y,Synonymous_S121S,Silent,Silent,Silent exm2264712 20 34373979 [A/C] NM_016436 PHF20 Silent exm2268291 20 34432670 [A/G] NM_016436 PHF20 Silent exm1537899 20 34446298 [C/G] NM_016436 PHF20 EXON Missense_D139H exm2254248 20 34451162 [T/C] NM_016436 PHF20 EXON Synonymous_N216N exm1537930 20 34459679 [A/G] NM_016436 PHF20 EXON Missense_M404V exm1537932 20 34459706 [T/C] NM_016436 PHF20 EXON Missense_P413S exm1537937 20 34487348 [A/G] NM_016436 PHF20 EXON Missense_D447N exm1537941 20 34487478 [A/G] NM_016436 PHF20 EXON Missense_G490E exm1537954 20 34502107 [A/G] NM_016436 PHF20 EXON Missense_V605M exm1964266 20 34505413 [T/G] NM_016436 PHF20 EXON Missense_D611E exm2254249 20 34526913 [T/C] NM_016436 PHF20 EXON Synonymous_D865D exm1537989 20 34526960 [T/C] NM_016436 PHF20 EXON Missense_P881L exm1964281 20 34528813 [A/C] NM_016436 PHF20 EXON Missense_L914I exm1538001 20 34535529 [A/G] NM_016436 PHF20 EXON Missense_A1007T exm1538010 20 34541920 [T/C] NM_033630,NM_016558 SCAND1,SCAND1 EXON Missense_G159D,Missense_G96D exm2234354 20 34542404 [G/C] NM_033630,NM_016558 SCAND1,SCAND1 EXON Missense_R34G,Silent exm1538029 20 34556714 [A/G] NM_001207076,NM_080834 CNBD2,CNBD2 EXON Nonsense_W10X,Nonsense_W10X exm1538036 20 34560609 [A/G] NM_001207076,NM_080834 CNBD2,CNBD2 EXON Missense_R37H,Missense_R37H exm1538037 20 34560629 [T/C] NM_001207076,NM_080834 CNBD2,CNBD2 EXON Missense_R44W,Missense_R44W exm1964298 20 34568384 [G/C] NM_001207076,NM_080834 CNBD2,CNBD2 EXON Missense_H83D,Missense_H83D exm1538046 20 34568423 [C/G] NM_001207076,NM_080834 CNBD2,CNBD2 EXON Missense_P96A,Missense_P96A exm1538047 20 34568448 [T/G] NM_001207076,NM_080834 CNBD2,CNBD2 EXON Missense_I104S,Missense_I104S exm1538050 20 34568534 [T/C] NM_001207076,NM_080834 CNBD2,CNBD2 EXON Missense_R133C,Missense_R133C exm1538052 20 34568543 [T/C] NM_001207076,NM_080834 CNBD2,CNBD2 EXON Missense_R136W,Missense_R136W exm1538053 20 34568544 [A/G] NM_001207076,NM_080834 CNBD2,CNBD2 EXON Missense_R136Q,Missense_R136Q exm1538055 20 34571917 [T/C] NM_001207076,NM_080834 CNBD2,CNBD2 EXON Missense_R141C,Missense_R141C exm1538065 20 34572606 [A/G] NM_001207076,NM_080834 CNBD2,CNBD2 EXON Missense_T208A,Missense_T208A exm1538066 20 34572607 [T/C] NM_001207076,NM_080834 CNBD2,CNBD2 EXON Missense_T208M,Missense_T208M exm1964304 20 34572626 [C/G] NM_001207076,NM_080834 CNBD2,CNBD2 EXON Missense_D214E,Missense_D214E exm1538068 20 34572668 [T/G] NM_001207076,NM_080834 CNBD2,CNBD2 EXON Missense_Q228H,Missense_Q228H exm1964307 20 34575330 [T/G] NM_001207076,NM_080834 CNBD2,CNBD2 EXON Missense_F244V,Missense_F244V exm1538073 20 34575384 [A/G] NM_001207076,NM_080834 CNBD2,CNBD2 EXON Missense_E262K,Missense_E262K exm1538075 20 34575412 [G/C] NM_001207076,NM_080834 CNBD2,CNBD2 EXON Nonsense_S271X,Nonsense_S271X exm1538082 20 34583012 [A/G] NM_001207076,NM_080834 CNBD2,CNBD2 EXON Missense_R303H,Missense_R303H exm1538095 20 34596371 [T/C] NM_001207076,NM_080834 CNBD2,CNBD2 EXON Missense_P375S,Missense_P375S exm1538099 20 34599133 [T/C] NM_001207076,NM_080834 CNBD2,CNBD2 EXON Missense_V408A,Missense_V408A exm2234356 20 34599150 [T/G] NM_001207076,NM_080834 CNBD2,CNBD2 EXON Missense_V414L,Missense_V414L exm1538104 20 34611577 [C/G] NM_001207076,NM_080834 CNBD2,CNBD2 EXON Silent,Missense_I437M exm1538108 20 34611602 [T/A] NM_001207076,NM_080834 CNBD2,CNBD2 EXON Silent,Missense_I446L exm1538109 20 34611605 [T/C] NM_001207076,NM_080834 CNBD2,CNBD2 EXON Silent,Missense_R447W exm1538111 20 34611650 [A/G] NM_001207076,NM_080834 CNBD2,CNBD2 EXON Silent,Missense_E462K exm1538113 20 34618331 [T/C] NM_001207076,NM_080834 CNBD2,CNBD2 EXON Silent,Missense_R494W exm1538116 20 34618440 [T/C] NM_001207076,NM_080834 CNBD2,CNBD2 EXON Silent,Missense_L530S exm1538119 20 34618470 [A/G] NM_001207076,NM_080834 CNBD2,CNBD2 EXON Silent,Missense_R540H exm1538127 20 34618622 [C/G] NM_001207076,NM_080834 CNBD2,CNBD2 EXON Silent,Silent exm-rs7265718 20 34635441 [T/G] NR_027451 LINC00657 EXON Silent exm1538168 20 34773193 [T/C] NM_001258331,NM_001258329,NM_001258330,NM_177996,NM_012156 EPB41L1,EPB41L1,EPB41L1,EPB41L1,EPB41L1 EXON Missense_R179C,Missense_R241C,Missense_R210C,Missense_R179C,Missense_R241C exm1538173 20 34773235 [A/G] NM_001258331,NM_001258329,NM_001258330,NM_177996,NM_012156 EPB41L1,EPB41L1,EPB41L1,EPB41L1,EPB41L1 EXON Missense_M193V,Missense_M255V,Missense_M224V,Missense_M193V,Missense_M255V exm1538202 20 34783252 [T/C] NM_001258331,NM_001258329,NM_001258330,NM_177996,NM_012156 EPB41L1,EPB41L1,EPB41L1,EPB41L1,EPB41L1 EXON Silent,Missense_P484L,Silent,Silent,Missense_P484L exm1538214 20 34785938 [A/G] NM_001258331,NM_001258329,NM_001258330,NM_177996,NM_012156 EPB41L1,EPB41L1,EPB41L1,EPB41L1,EPB41L1 EXON Missense_K474R,Missense_K548R,Missense_K505R,Missense_K474R,Missense_K548R exm2275147 20 34797455 [T/C] NM_001258331,NM_001258329,NM_001258330,NM_177996,NM_012156 EPB41L1,EPB41L1,EPB41L1,EPB41L1,EPB41L1 EXON Missense_R498C,Missense_R572C,Silent,Missense_R498C,Missense_R572C exm1538227 20 34797675 [A/G] NM_001258331,NM_001258329,NM_001258330,NM_177996,NM_012156 EPB41L1,EPB41L1,EPB41L1,EPB41L1,EPB41L1 EXON Missense_R571Q,Missense_R645Q,Silent,Missense_R571Q,Missense_R645Q exm1538229 20 34797690 [T/C] NM_001258331,NM_001258329,NM_001258330,NM_177996,NM_012156 EPB41L1,EPB41L1,EPB41L1,EPB41L1,EPB41L1 EXON Missense_S576L,Missense_S650L,Silent,Missense_S576L,Missense_S650L exm1538234 20 34797801 [T/C] NM_001258331,NM_001258329,NM_001258330,NM_177996,NM_012156 EPB41L1,EPB41L1,EPB41L1,EPB41L1,EPB41L1 EXON Missense_P613L,Missense_P687L,Silent,Missense_P613L,Missense_P687L exm1538244 20 34802349 [T/C] NM_001258331,NM_001258329,NM_001258330,NM_177996,NM_012156 EPB41L1,EPB41L1,EPB41L1,EPB41L1,EPB41L1 EXON Silent,Missense_I751T,Missense_I572T,Silent,Missense_I752T exm1538245 20 34806805 [A/G] NM_001258331,NM_001258329,NM_001258330,NM_177996,NM_012156 EPB41L1,EPB41L1,EPB41L1,EPB41L1,EPB41L1 EXON Missense_S657N,Missense_S758N,Missense_S579N,Missense_S657N,Missense_S759N exm1538249 20 34806861 [A/G] NM_001258331,NM_001258329,NM_001258330,NM_177996,NM_012156 EPB41L1,EPB41L1,EPB41L1,EPB41L1,EPB41L1 EXON Missense_T676A,Missense_T777A,Missense_T598A,Missense_T676A,Missense_T778A exm1538254 20 34807711 [T/C] NM_001258331,NM_001258329,NM_001258330,NM_177996,NM_012156 EPB41L1,EPB41L1,EPB41L1,EPB41L1,EPB41L1 EXON Missense_T693I,Missense_T794I,Missense_T615I,Missense_T693I,Missense_T795I exm1538268 20 34827932 [T/G] NM_015511,NM_001271874 AAR2,AAR2 EXON Missense_V48L,Missense_V48L exm1538274 20 34828040 [T/C] NM_015511,NM_001271874 AAR2,AAR2 EXON Missense_R84W,Missense_R84W exm1538278 20 34828160 [A/C] NM_015511,NM_001271874 AAR2,AAR2 EXON Missense_P124T,Missense_P124T exm1538287 20 34828252 [G/C] NM_015511,NM_001271874 AAR2,AAR2 EXON Missense_Q154H,Missense_Q154H exm1538307 20 34832666 [A/G] NM_015511,NM_001271874 AAR2,AAR2 EXON Missense_E269K,Missense_E269K exm1538311 20 34832709 [A/G] NM_015511,NM_001271874 AAR2,AAR2 EXON Missense_R283Q,Missense_R283Q exm1538313 20 34832745 [A/G] NM_015511,NM_001271874 AAR2,AAR2 EXON Missense_Y295C,Missense_Y295C exm1538324 20 34843605 [A/G] NM_015511,NM_001271874 AAR2,AAR2 EXON Missense_A365T,Missense_A365T exm2272893 20 34975232 [T/C] exm1538360 20 35060236 [T/C] NM_014902 DLGAP4 EXON Missense_A39V exm1538369 20 35060338 [A/G] NM_014902 DLGAP4 EXON Missense_R73H exm1538372 20 35060424 [A/G] NM_014902 DLGAP4 EXON Missense_A102T exm1538382 20 35060539 [A/G] NM_014902 DLGAP4 EXON Missense_R140H exm1538384 20 35060613 [A/G] NM_014902 DLGAP4 EXON Missense_G165S exm1538406 20 35060853 [A/G] NM_014902 DLGAP4 EXON Missense_A245T exm1538410 20 35060929 [T/C] NM_014902 DLGAP4 EXON Missense_P270L exm1538415 20 35061030 [A/G] NM_014902 DLGAP4 EXON Missense_E304K exm1538429 20 35068204 [A/G] NM_014902 DLGAP4 EXON Missense_C430Y exm1538446 20 35075310 [A/G] NM_014902 DLGAP4 EXON Missense_G540S exm1538448 20 35075339 [A/G] NM_014902 DLGAP4 EXON Synonymous_P549P exm2254251 20 35125280 [T/C] NM_014902,NM_001042486,NM_183006 DLGAP4,DLGAP4,DLGAP4 EXON Synonymous_N607N,Silent,Synonymous_N68N exm1538456 20 35125280 [T/C] NM_014902,NM_001042486,NM_183006 DLGAP4,DLGAP4,DLGAP4 EXON Synonymous_N607N,Silent,Synonymous_N68N exm1538475 20 35128051 [A/G] NM_014902,NM_001042486,NM_183006 DLGAP4,DLGAP4,DLGAP4 EXON Silent,Silent,Missense_I152V exm1538481 20 35128751 [A/G] NM_014902,NM_001042486,NM_183006 DLGAP4,DLGAP4,DLGAP4 EXON Missense_R747Q,Missense_R43Q,Missense_R211Q exm1538486 20 35128780 [T/C] NM_014902,NM_001042486,NM_183006 DLGAP4,DLGAP4,DLGAP4 EXON Missense_R757C,Missense_R53C,Missense_R221C exm1538500 20 35128988 [C/G] NM_014902,NM_001042486,NM_183006 DLGAP4,DLGAP4,DLGAP4 EXON Missense_T826S,Missense_T122S,Missense_T290S exm1538505 20 35152722 [A/G] NM_014902,NM_001042486,NM_183006 DLGAP4,DLGAP4,DLGAP4 EXON Missense_R858Q,Missense_R154Q,Missense_R322Q exm1538515 20 35155271 [T/C] NM_014902,NM_001042486,NM_183006 DLGAP4,DLGAP4,DLGAP4 EXON Missense_A936V,Missense_A232V,Missense_A400V exm1538550 20 35207292 [T/G] NM_001199513,NM_001199514,NM_021809,NM_001199515,NM_001199535 TGIF2,TGIF2,TGIF2,TGIF2,TGIF2-C20orf24 EXON Missense_L39V,Missense_L39V,Missense_L39V,Missense_L39V,Missense_L39V exm1538585 20 35240459 [A/G] NM_001199535,NR_026562,NM_018840,NM_199483,NM_001199534 TGIF2-C20orf24,C20orf24,C20orf24,C20orf24,C20orf24 EXON Silent,Silent,Silent,Missense_V89I,Silent exm2254252 20 35240557 [A/G] NM_001199535,NR_026562,NM_018840,NM_199483,NM_001199534 TGIF2-C20orf24,C20orf24,C20orf24,C20orf24,C20orf24 EXON Silent,Silent,Silent,Synonymous_E121E,Silent exm2273579 20 35242251 [T/G] NM_032214,NM_175077 SLA2,SLA2 EXON Silent,Silent exm1538599 20 35242331 [A/G] NM_032214,NM_175077 SLA2,SLA2 EXON Missense_R242W,Silent exm1538601 20 35242355 [T/C] NM_032214,NM_175077 SLA2,SLA2 EXON Missense_E234K,Silent exm1538605 20 35242745 [T/C] NM_032214,NM_175077 SLA2,SLA2 EXON Missense_V210M,Missense_C193Y exm1538611 20 35243672 [T/C] NM_032214,NM_175077 SLA2,SLA2 EXON Missense_R163H,Missense_R163H exm1538615 20 35243680 [G/C] NM_032214,NM_175077 SLA2,SLA2 EXON Missense_I160M,Missense_I160M exm1538617 20 35243729 [T/C] NM_032214,NM_175077 SLA2,SLA2 EXON Missense_R144Q,Missense_R144Q exm1538628 20 35262950 [T/G] NM_032214,NM_175077 SLA2,SLA2 EXON Missense_A45E,Missense_A45E exm1538629 20 35262953 [A/G] NM_032214,NM_175077 SLA2,SLA2 EXON Missense_P44L,Missense_P44L exm-rs221308 20 35276398 [A/G] exm1538639 20 35282011 [A/G] NM_022477,NM_032013,NR_038370 NDRG3,NDRG3,NDRG3 EXON Missense_V335A,Missense_V347A,Silent exm1538654 20 35293646 [T/C] NM_022477,NM_032013,NR_038370 NDRG3,NDRG3,NDRG3 EXON Missense_T239A,Missense_T251A,Silent exm1964475 20 35299781 [T/C] NM_022477,NM_032013,NR_038370 NDRG3,NDRG3,NDRG3 EXON Missense_N172S,Missense_N184S,Silent exm1538666 20 35299785 [T/C] NM_022477,NM_032013,NR_038370 NDRG3,NDRG3,NDRG3 EXON Missense_T171A,Missense_T183A,Silent exm1538674 20 35315898 [A/G] NM_022477,NM_032013,NR_038370 NDRG3,NDRG3,NDRG3 EXON Missense_T94I,Missense_T106I,Silent exm1538693 20 35381262 [A/G] NM_001145317,NM_024918,NM_001145315,NM_001145318,NM_001145316 DSN1,DSN1,DSN1,DSN1,DSN1 EXON Nonsense_R227X,Nonsense_R334X,Nonsense_R334X,Nonsense_R318X,Nonsense_R334X exm1964492 20 35383182 [A/C] NM_001145317,NM_024918,NM_001145315,NM_001145318,NM_001145316 DSN1,DSN1,DSN1,DSN1,DSN1 EXON Missense_K208N,Missense_K315N,Missense_K315N,Missense_K299N,Missense_K315N exm1538699 20 35384173 [T/G] NM_001145317,NM_024918,NM_001145315,NM_001145318,NM_001145316 DSN1,DSN1,DSN1,DSN1,DSN1 EXON Missense_S155Y,Missense_S262Y,Missense_S262Y,Missense_S246Y,Missense_S262Y exm1538703 20 35386551 [A/G] NM_001145317,NM_024918,NM_001145315,NM_001145318,NM_001145316 DSN1,DSN1,DSN1,DSN1,DSN1 EXON Missense_R115C,Missense_R222C,Missense_R222C,Missense_R206C,Missense_R222C exm1538708 20 35390900 [T/C] NM_001145317,NM_024918,NM_001145315,NM_001145318,NM_001145316 DSN1,DSN1,DSN1,DSN1,DSN1 EXON Missense_D78G,Missense_D185G,Missense_D185G,Missense_D169G,Missense_D185G exm1538714 20 35399320 [A/G] NM_001145317,NM_024918,NM_001145315,NM_001145318,NM_001145316 DSN1,DSN1,DSN1,DSN1,DSN1 EXON Silent,Missense_T104M,Missense_T104M,Missense_T88M,Missense_T104M exm1538726 20 35399840 [T/C] NM_001145317,NM_024918,NM_001145315,NM_001145318,NM_001145316 DSN1,DSN1,DSN1,DSN1,DSN1 EXON Missense_E8K,Missense_E8K,Missense_E8K,Silent,Missense_E8K exm1538728 20 35399859 [T/C] NM_001145317,NM_024918,NM_001145315,NM_001145318,NM_001145316 DSN1,DSN1,DSN1,DSN1,DSN1 EXON Missense_M1I,Missense_M1I,Missense_M1I,Silent,Missense_M1I exm1538734 20 35414898 [A/G] NM_199181,NM_080627 SOGA1,SOGA1 EXON Silent,Missense_P1659L exm1538737 20 35414944 [A/G] NM_199181,NM_080627 SOGA1,SOGA1 EXON Silent,Missense_H1644Y exm1538751 20 35421971 [A/G] NM_199181,NM_080627 SOGA1,SOGA1 EXON Silent,Missense_T1505M exm1538764 20 35422550 [T/C] NM_199181,NM_080627 SOGA1,SOGA1 EXON Silent,Missense_R1312H exm1538766 20 35422616 [A/G] NM_199181,NM_080627 SOGA1,SOGA1 EXON Silent,Missense_S1290L exm1538772 20 35422777 [C/G] NM_199181,NM_080627 SOGA1,SOGA1 EXON Silent,Missense_R1236S exm1538774 20 35422792 [G/C] NM_199181,NM_080627 SOGA1,SOGA1 EXON Missense_Q993H,Missense_Q1231H exm1538777 20 35422878 [T/C] NM_199181,NM_080627 SOGA1,SOGA1 EXON Missense_E965K,Missense_E1203K exm1538787 20 35425351 [T/C] NM_199181,NM_080627 SOGA1,SOGA1 EXON Missense_R901H,Missense_R1139H exm1538797 20 35431444 [A/G] NM_199181,NM_080627 SOGA1,SOGA1 EXON Missense_R814W,Missense_R1052W exm1538800 20 35431486 [T/C] NM_199181,NM_080627 SOGA1,SOGA1 EXON Missense_A800T,Missense_A1038T exm1538801 20 35433166 [T/C] NM_199181,NM_080627 SOGA1,SOGA1 EXON Missense_R782Q,Missense_R1020Q exm1538805 20 35433226 [T/C] NM_199181,NM_080627 SOGA1,SOGA1 EXON Missense_R762H,Missense_R1000H exm1538808 20 35433295 [T/C] NM_199181,NM_080627 SOGA1,SOGA1 EXON Missense_Y739C,Missense_Y977C exm1538810 20 35434292 [T/G] NM_199181,NM_080627 SOGA1,SOGA1 EXON Missense_N723K,Missense_N961K exm1538815 20 35436965 [T/C] NM_199181,NM_080627 SOGA1,SOGA1 EXON Missense_R684H,Missense_R922H exm1538821 20 35438414 [T/C] NM_199181,NM_080627 SOGA1,SOGA1 EXON Missense_A614T,Missense_A852T exm1538825 20 35438474 [T/C] NM_199181,NM_080627 SOGA1,SOGA1 EXON Missense_D594N,Missense_D832N exm1538836 20 35441179 [G/C] NM_199181,NM_080627 SOGA1,SOGA1 EXON Missense_L557F,Missense_L795F exm1538838 20 35441225 [A/G] NM_199181,NM_080627 SOGA1,SOGA1 EXON Missense_P542L,Missense_P780L exm1538841 20 35443554 [A/G] NM_199181,NM_080627 SOGA1,SOGA1 EXON Missense_A526V,Missense_A764V exm1538842 20 35443621 [G/C] NM_199181,NM_080627 SOGA1,SOGA1 EXON Missense_Q504E,Missense_Q742E exm1538853 20 35443840 [T/C] NM_199181,NM_080627 SOGA1,SOGA1 EXON Missense_V431I,Missense_V669I exm1538859 20 35443935 [T/A] NM_199181,NM_080627 SOGA1,SOGA1 EXON Missense_H399L,Missense_H637L exm1538886 20 35444587 [A/G] NM_199181,NM_080627 SOGA1,SOGA1 EXON Missense_R182C,Missense_R420C exm1538897 20 35457584 [T/C] NM_199181,NM_080627 SOGA1,SOGA1 EXON Missense_K77R,Missense_K315R exm1538929 20 35506344 [A/G] NM_080628 C20orf118 EXON Missense_E26K exm1538936 20 35507472 [T/C] NM_080628 C20orf118 EXON Missense_T73I exm1538942 20 35507541 [A/G] NM_080628 C20orf118 EXON Missense_R96Q exm1538944 20 35507548 [C/G] NM_080628 C20orf118 EXON Missense_E98D exm1964571 20 35507556 [A/G] NM_080628 C20orf118 EXON Missense_S101N exm1538945 20 35507558 [A/G] NM_080628 C20orf118 EXON Missense_G102R exm1538947 20 35507591 [A/G] NM_080628 C20orf118 EXON Missense_G113R exm1964575 20 35509061 [T/C] NM_080628 C20orf118 EXON Missense_F116L exm1538951 20 35509130 [T/G] NM_080628 C20orf118 EXON Missense_F139V exm1538958 20 35517691 [T/C] NM_080628 C20orf118 EXON Missense_R184C exm1538959 20 35517702 [A/C] NM_080628 C20orf118 EXON Missense_S187R exm1964582 20 35517722 [A/G] NM_080628 C20orf118 EXON Missense_N194S exm1538963 20 35521264 [T/G] NM_080628,NM_015474 C20orf118,SAMHD1 EXON Silent,Silent exm1964586 20 35521384 [T/C] NM_080628,NM_015474 C20orf118,SAMHD1 EXON Silent,Missense_R611Q exm1538978 20 35526858 [C/G] NM_015474 SAMHD1 EXON Missense_R531S exm1538984 20 35533784 [T/G] NM_015474 SAMHD1 EXON Missense_Q465K exm1538989 20 35533877 [T/C] NM_015474 SAMHD1 EXON Missense_T434A exm1539002 20 35545171 [T/C] NM_015474 SAMHD1 EXON Missense_R339H exm2234379 20 35545175 [A/C] NM_015474 SAMHD1 EXON Missense_A338S exm1539009 20 35547788 [T/A] NM_015474 SAMHD1 EXON Missense_E277D exm2272928 20 35563624 [T/C] NM_015474 SAMHD1 Silent exm1539020 20 35569456 [T/C] NM_015474 SAMHD1 EXON Missense_V112I exm1539031 20 35579970 [A/G] NM_015474 SAMHD1 EXON Missense_P26L exm1539033 20 35579979 [C/G] NM_015474 SAMHD1 EXON Nonsense_S23X exm2264702 20 35590249 [A/C] exm2276715 20 35632140 [C/G] NM_002895,NM_183404 RBL1,RBL1 EXON Missense_A1001P,Missense_A1001P exm1539077 20 35661138 [A/G] NM_002895,NM_183404 RBL1,RBL1 EXON Missense_A771V,Missense_A771V exm1539078 20 35661144 [A/G] NM_002895,NM_183404 RBL1,RBL1 EXON Missense_T769I,Missense_T769I exm1539082 20 35661245 [T/C] NM_002895,NM_183404 RBL1,RBL1 EXON Missense_I735M,Missense_I735M exm2234381 20 35661249 [A/G] NM_002895,NM_183404 RBL1,RBL1 EXON Missense_L734P,Missense_L734P exm1539083 20 35663657 [T/C] NM_002895,NM_183404 RBL1,RBL1 EXON Missense_I720V,Missense_I720V exm1539095 20 35668562 [A/G] NM_002895,NM_183404 RBL1,RBL1 EXON Nonsense_R633X,Nonsense_R633X exm1539100 20 35668684 [A/G] NM_002895,NM_183404 RBL1,RBL1 EXON Missense_I592T,Missense_I592T exm1539101 20 35668688 [C/G] NM_002895,NM_183404 RBL1,RBL1 EXON Missense_V591L,Missense_V591L exm1539103 20 35672607 [A/G] NM_002895,NM_183404 RBL1,RBL1 EXON Missense_M551T,Missense_M551T exm1539105 20 35675502 [C/G] NM_002895,NM_183404 RBL1,RBL1 EXON Missense_P520R,Missense_P520R exm1539106 20 35675512 [A/G] NM_002895,NM_183404 RBL1,RBL1 EXON Missense_R517C,Missense_R517C exm1539108 20 35684642 [T/C] NM_002895,NM_183404 RBL1,RBL1 EXON Missense_V424M,Missense_V424M exm1539115 20 35689623 [T/C] NM_002895,NM_183404 RBL1,RBL1 EXON Missense_R378Q,Missense_R378Q exm1539117 20 35690557 [T/C] NM_002895,NM_183404 RBL1,RBL1 EXON Missense_R338H,Missense_R338H exm1964675 20 35690560 [A/G] NM_002895,NM_183404 RBL1,RBL1 EXON Missense_T337I,Missense_T337I exm1539138 20 35695678 [T/C] NM_002895,NM_183404 RBL1,RBL1 EXON Missense_D172N,Missense_D172N exm1964684 20 35696456 [T/C] NM_002895,NM_183404 RBL1,RBL1 EXON Missense_I142V,Missense_I142V exm1539145 20 35696572 [T/C] NM_002895,NM_183404 RBL1,RBL1 EXON Missense_S103N,Missense_S103N exm1539147 20 35696591 [T/A] NM_002895,NM_183404 RBL1,RBL1 Silent,Silent exm1539156 20 35724301 [T/C] NM_002895,NM_183404 RBL1,RBL1 EXON Missense_A11T,Missense_A11T exm1539164 20 35731181 [C/G] NM_152503 MROH8 EXON Missense_D1013E exm1539171 20 35740753 [A/C] NM_152503 MROH8 EXON Missense_X930L exm1539172 20 35740766 [A/G] NM_152503 MROH8 EXON Missense_H926Y exm2275402 20 35742471 [A/C] NM_152503 MROH8 EXON Nonsense_E872X exm1539184 20 35742503 [T/C] NM_152503 MROH8 EXON Missense_R861H exm1539192 20 35743730 [A/C] NM_152503 MROH8 EXON Missense_H794Q exm1539197 20 35748190 [A/G] NM_152503 MROH8 EXON Missense_P761L exm1539206 20 35749423 [T/C] NM_152503 MROH8 EXON Missense_Y665C exm1539209 20 35752070 [T/C] NM_152503 MROH8 EXON Missense_R640Q exm1539220 20 35757542 [A/C] NM_152503,NM_213631,NM_213632 MROH8,MROH8,MROH8 EXON Missense_V560G,Missense_V560G,Missense_V525G exm1539222 20 35766221 [T/C] NM_152503,NM_213631,NM_213632 MROH8,MROH8,MROH8 EXON Missense_V548I,Missense_V548I,Missense_V513I exm1539224 20 35766232 [A/G] NM_152503,NM_213631,NM_213632 MROH8,MROH8,MROH8 EXON Missense_S544L,Missense_S544L,Missense_S509L exm1539225 20 35766235 [A/G] NM_152503,NM_213631,NM_213632 MROH8,MROH8,MROH8 EXON Missense_V543A,Missense_V543A,Missense_V508A exm1539226 20 35766239 [T/A] NM_152503,NM_213631,NM_213632 MROH8,MROH8,MROH8 EXON Missense_S542T,Missense_S542T,Missense_S507T exm1539229 20 35766293 [A/G] NM_152503,NM_213631,NM_213632 MROH8,MROH8,MROH8 EXON Missense_R524C,Missense_R524C,Missense_R489C exm1539231 20 35766337 [A/G] NM_152503,NM_213631,NM_213632 MROH8,MROH8,MROH8 EXON Missense_I509T,Missense_I509T,Missense_I474T exm1539236 20 35769592 [T/C] NM_152503,NM_213631,NM_213632 MROH8,MROH8,MROH8 EXON Missense_K488E,Missense_K488E,Missense_K453E exm1539237 20 35769647 [T/G] NM_152503,NM_213631,NM_213632 MROH8,MROH8,MROH8 EXON Missense_N469K,Missense_N469K,Missense_N434K exm1539238 20 35772121 [T/C] NM_152503,NM_213631,NM_213632 MROH8,MROH8,MROH8 EXON Synonymous_P445P,Synonymous_P445P,Synonymous_P410P exm1539241 20 35772198 [T/C] NM_152503,NM_213631,NM_213632 MROH8,MROH8,MROH8 EXON Missense_D420N,Missense_D420N,Missense_D385N exm1539249 20 35776280 [T/G] NM_152503,NM_213631,NM_213632 MROH8,MROH8,MROH8 EXON Missense_S370R,Missense_S370R,Missense_S335R exm1539253 20 35783517 [T/C] NM_152503,NM_213631,NM_213632 MROH8,MROH8,MROH8 EXON Missense_G342S,Missense_G342S,Silent exm1539259 20 35787315 [T/C] NM_152503,NM_213631,NM_213632 MROH8,MROH8,MROH8 EXON Missense_Q285R,Missense_Q285R,Missense_Q285R exm1539266 20 35796541 [T/C] NM_152503,NM_213631,NM_213632 MROH8,MROH8,MROH8 EXON Missense_H211R,Missense_H211R,Missense_H211R exm1539267 20 35796575 [A/G] NM_152503,NM_213631,NM_213632 MROH8,MROH8,MROH8 EXON Missense_R200C,Missense_R200C,Missense_R200C exm1539275 20 35802500 [T/C] NM_152503,NM_213631,NM_213632 MROH8,MROH8,MROH8 EXON Missense_S93N,Missense_S93N,Missense_S93N exm1539285 20 35807834 [A/G] NM_152503,NM_213631,NM_213632,NM_002951,NM_001135771 MROH8,MROH8,MROH8,RPN2,RPN2 EXON Missense_A17V,Missense_A17V,Missense_A17V,Silent,Silent exm-rs6031882 20 35809783 [T/C] NM_002951,NM_001135771 RPN2,RPN2 Silent,Silent exm1539290 20 35812669 [A/G] NM_002951,NM_001135771 RPN2,RPN2 EXON Missense_V34M,Missense_V34M exm1539295 20 35812744 [A/G] NM_002951,NM_001135771 RPN2,RPN2 EXON Missense_S59G,Missense_S59G exm1539302 20 35826857 [T/C] NM_002951,NM_001135771 RPN2,RPN2 EXON Missense_Y89H,Silent exm1539308 20 35827498 [A/G] NM_002951,NM_001135771 RPN2,RPN2 EXON Missense_S117G,Missense_S85G exm1539317 20 35832292 [A/G] NM_002951,NM_001135771 RPN2,RPN2 EXON Missense_V162I,Missense_V130I exm1964735 20 35833201 [A/G] NM_002951,NM_001135771 RPN2,RPN2 EXON Missense_G196D,Missense_G164D exm1539345 20 35835826 [A/G] NM_002951,NM_001135771 RPN2,RPN2 EXON Missense_D281N,Missense_D249N exm1539361 20 35852309 [A/G] NM_002951,NM_001135771 RPN2,RPN2 EXON Missense_G374D,Missense_G342D exm1539370 20 35857025 [A/G] NM_002951,NM_001135771 RPN2,RPN2 EXON Missense_V458M,Missense_V426M exm1539380 20 35858416 [T/C] NM_002951,NM_001135771 RPN2,RPN2 EXON Missense_S512L,Missense_S480L exm1539384 20 35860711 [A/G] NM_002951,NM_001135771 RPN2,RPN2 EXON Missense_E532K,Missense_E500K exm1539393 20 35862430 [A/G] NM_002951,NM_001135771 RPN2,RPN2 EXON Missense_R562Q,Missense_R530Q exm-rs4608 20 35865054 [T/C] NM_002951,NM_001135771 RPN2,RPN2 EXON Synonymous_L609L,Synonymous_L577L exm1539415 20 35882698 [A/G] NM_001184731,NM_021081 GHRH,GHRH EXON Missense_L75F,Missense_L75F exm1539426 20 35884879 [T/G] NM_001184731,NM_021081 GHRH,GHRH EXON Missense_I36L,Missense_I36L exm1539445 20 35929815 [T/C] NM_001003897,NM_022077 MANBAL,MANBAL EXON Missense_A50V,Missense_A50V exm2260932 20 35990792 [T/C] NM_005417,NM_198291 SRC,SRC Silent,Silent exm1539480 20 36026209 [T/C] NM_005417,NM_198291 SRC,SRC EXON Missense_R271W,Missense_R271W exm1964800 20 36028533 [A/C] NM_005417,NM_198291 SRC,SRC EXON Missense_T292N,Missense_T292N exm2272894 20 36071598 [T/C] exm1539527 20 36147401 [T/C] NM_001167822,NM_001167821,NM_001167823,NM_006698,NM_001167820 BLCAP,BLCAP,BLCAP,BLCAP,BLCAP EXON Missense_Y59C,Missense_Y59C,Missense_Y59C,Missense_Y59C,Missense_Y59C exm1539566 20 36374919 [G/C] NM_030877 CTNNBL1 EXON Missense_V126L exm1539581 20 36396429 [G/C] NM_030877 CTNNBL1 EXON Missense_L245V exm1539584 20 36405814 [A/G] NM_030877 CTNNBL1 EXON Missense_N273S exm-rs4811196 20 36469694 [A/G] NM_030877 CTNNBL1 Silent exm1539602 20 36470780 [A/G] NM_030877 CTNNBL1 EXON Missense_A451T exm1539604 20 36470793 [T/C] NM_030877 CTNNBL1 EXON Missense_A455V exm1539609 20 36488332 [A/G] NM_030877 CTNNBL1 EXON Missense_N475S exm1539611 20 36488359 [A/G] NM_030877 CTNNBL1 EXON Missense_R484Q exm1964869 20 36500369 [A/G] NM_030877 CTNNBL1 EXON Missense_R549Q exm2254255 20 36557276 [A/G] NM_080607 VSTM2L Silent exm1539633 20 36560076 [T/C] NM_080607 VSTM2L EXON Missense_T54M exm1539639 20 36560124 [T/C] NM_080607 VSTM2L EXON Missense_P70L exm1964917 20 36560159 [T/C] NM_080607 VSTM2L EXON Missense_R82W exm1539644 20 36560190 [T/C] NM_080607 VSTM2L EXON Missense_A92V exm1964919 20 36561948 [T/C] NM_080607 VSTM2L EXON Missense_A100V exm1539650 20 36572386 [A/G] NM_080607 VSTM2L EXON Missense_V116I exm1539655 20 36572456 [T/C] NM_080607 VSTM2L EXON Missense_T139I exm1539658 20 36572542 [A/G] NM_080607 VSTM2L EXON Missense_N168D exm1539660 20 36572560 [C/G] NM_080607 VSTM2L EXON Missense_P174A exm1539663 20 36572597 [A/C] NM_080607 VSTM2L EXON Missense_P186H exm-rs1000158 20 36599904 [A/G] exm1539682 20 36624780 [T/C] NM_014657 TTI1 EXON Missense_R1028K exm1539693 20 36625348 [T/C] NM_014657 TTI1 EXON Missense_R934H exm1964937 20 36627640 [T/C] NM_014657 TTI1 EXON Missense_V915I exm1539705 20 36627721 [T/C] NM_014657 TTI1 EXON Missense_V888M exm1539706 20 36631077 [A/G] NM_014657 TTI1 EXON Missense_R869C exm1539707 20 36631092 [T/C] NM_014657 TTI1 EXON Missense_M864V exm1539709 20 36631136 [T/C] NM_014657 TTI1 EXON Missense_R849H exm1539710 20 36631137 [A/G] NM_014657 TTI1 EXON Missense_R849C exm1539715 20 36634619 [A/G] NM_014657 TTI1 EXON Missense_S828L exm1539729 20 36639968 [T/C] NM_014657 TTI1 EXON Missense_K751E exm1964947 20 36640099 [A/C] NM_014657 TTI1 EXON Missense_R707L exm1964948 20 36640103 [T/G] NM_014657 TTI1 EXON Missense_L706M exm1539737 20 36640130 [A/G] NM_014657 TTI1 EXON Missense_Y697H exm1539749 20 36640432 [A/G] NM_014657 TTI1 EXON Missense_T596M exm1539752 20 36640492 [A/G] NM_014657 TTI1 EXON Missense_L576P exm1539757 20 36640619 [A/C] NM_014657 TTI1 EXON Missense_A534S exm1539764 20 36640870 [T/C] NM_014657 TTI1 EXON Missense_R450H exm1539766 20 36640885 [A/G] NM_014657 TTI1 EXON Missense_I445T exm1539771 20 36640975 [A/G] NM_014657 TTI1 EXON Missense_I415T exm1539776 20 36641123 [A/C] NM_014657 TTI1 EXON Missense_G366C exm1539778 20 36641190 [G/C] NM_014657 TTI1 EXON Missense_E343D exm1539782 20 36641366 [T/C] NM_014657 TTI1 EXON Missense_D285N exm1539786 20 36641471 [T/C] NM_014657 TTI1 EXON Missense_E250K exm1539791 20 36641600 [A/C] NM_014657 TTI1 EXON Missense_A207S exm1539795 20 36641735 [T/C] NM_014657 TTI1 EXON Missense_A162T exm1539828 20 36662369 [T/C] NM_021215 RPRD1B EXON Missense_S7L exm2276717 20 36676878 [G/C] NM_021215 RPRD1B EXON Missense_P137R exm1539864 20 36758674 [T/C] NM_004613 TGM2 EXON Missense_D671N exm1539866 20 36758680 [T/C] NM_004613 TGM2 EXON Missense_E669K exm1539868 20 36758692 [A/C] NM_004613 TGM2 EXON Missense_V665L exm1965039 20 36760744 [A/G] NM_004613 TGM2 EXON Missense_R592W exm1539888 20 36760882 [T/C] NM_004613 TGM2 EXON Missense_I546V exm1539890 20 36760894 [A/C] NM_004613 TGM2 EXON Missense_V542F exm2234397 20 36766524 [A/G] NM_004613,NM_198951 TGM2,TGM2 EXON Missense_P536S,Missense_P536S exm1539905 20 36766724 [T/C] NM_004613,NM_198951 TGM2,TGM2 EXON Missense_E469G,Missense_E469G exm1539909 20 36767850 [A/G] NM_004613,NM_198951 TGM2,TGM2 EXON Missense_R436W,Missense_R436W exm1539911 20 36767858 [T/C] NM_004613,NM_198951 TGM2,TGM2 EXON Missense_R433Q,Missense_R433Q exm1539922 20 36768026 [T/C] NM_004613,NM_198951 TGM2,TGM2 EXON Missense_R377H,Missense_R377H exm1539930 20 36769745 [T/G] NM_004613,NM_198951 TGM2,TGM2 EXON Missense_D346E,Missense_D346E exm2276718 20 36770472 [A/C] NM_004613,NM_198951 TGM2,TGM2 EXON Missense_M330R,Missense_M330R exm1539959 20 36776379 [T/C] NM_004613,NM_198951 TGM2,TGM2 EXON Missense_R222Q,Missense_R222Q exm1539963 20 36776410 [A/G] NM_004613,NM_198951 TGM2,TGM2 EXON Missense_S212P,Missense_S212P exm1965076 20 36779458 [T/C] NM_004613,NM_198951 TGM2,TGM2 EXON Synonymous_A145A,Synonymous_A145A exm1539975 20 36784336 [A/G] NM_004613,NM_198951 TGM2,TGM2 EXON Missense_R116C,Missense_R116C exm1539977 20 36784354 [T/C] NM_004613,NM_198951 TGM2,TGM2 EXON Missense_A110T,Missense_A110T exm1539983 20 36784408 [T/C] NM_004613,NM_198951 TGM2,TGM2 EXON Missense_V92M,Missense_V92M exm1539986 20 36784449 [A/G] NM_004613,NM_198951 TGM2,TGM2 EXON Missense_P78L,Missense_P78L exm1539987 20 36784455 [T/C] NM_004613,NM_198951 TGM2,TGM2 EXON Missense_R76H,Missense_R76H exm1540008 20 36841536 [A/G] NM_001029864 KIAA1755 EXON Missense_R1171C exm1540011 20 36841599 [A/G] NM_001029864 KIAA1755 EXON Missense_R1150C exm1540013 20 36841698 [A/G] NM_001029864 KIAA1755 EXON Nonsense_Q1117X exm1540018 20 36841839 [A/G] NM_001029864 KIAA1755 EXON Nonsense_R1070X exm1540019 20 36841847 [T/C] NM_001029864 KIAA1755 EXON Missense_R1067H exm1540026 20 36841914 [A/G] NM_001029864 KIAA1755 EXON Missense_R1045W exm1540028 20 36841920 [T/C] NM_001029864 KIAA1755 EXON Missense_E1043K exm1540033 20 36842033 [A/G] NM_001029864 KIAA1755 EXON Missense_L1005P exm1540036 20 36842049 [A/G] NM_001029864 KIAA1755 EXON Missense_R1000C exm1540044 20 36845698 [A/G] NM_001029864 KIAA1755 EXON Missense_T953M exm1540047 20 36845738 [T/C] NM_001029864 KIAA1755 EXON Missense_E940K exm1540063 20 36846731 [A/G] NM_001029864 KIAA1755 EXON Missense_L865P exm1540065 20 36846737 [T/C] NM_001029864 KIAA1755 EXON Missense_R863Q exm1540069 20 36848055 [A/G] NM_001029864 KIAA1755 EXON Missense_R845C exm1540070 20 36848064 [A/G] NM_001029864 KIAA1755 EXON Missense_R842C exm1540077 20 36850881 [A/G] NM_001029864 KIAA1755 EXON Missense_A796V exm1540080 20 36850920 [T/C] NM_001029864 KIAA1755 EXON Missense_R783Q exm1540084 20 36850999 [T/C] NM_001029864 KIAA1755 EXON Missense_E757K exm1540086 20 36851941 [T/C] NM_001029864 KIAA1755 EXON Missense_Q756R exm1540095 20 36854084 [T/A] NM_001029864 KIAA1755 EXON Missense_W718R exm1540096 20 36854087 [T/C] NM_001029864 KIAA1755 EXON Missense_E717K exm1965135 20 36854117 [A/G] NM_001029864 KIAA1755 EXON Synonymous_L707L exm1540109 20 36855621 [A/G] NM_001029864 KIAA1755 EXON Missense_R663W exm1540115 20 36856578 [T/C] NM_001029864 KIAA1755 EXON Missense_G646S exm1540119 20 36856616 [A/G] NM_001029864 KIAA1755 EXON Missense_A633V exm1540126 20 36867953 [T/C] NM_001029864 KIAA1755 EXON Missense_R575H exm1540129 20 36868020 [A/G] NM_001029864 KIAA1755 EXON Missense_P553S exm1540131 20 36868106 [A/G] NM_001029864 KIAA1755 EXON Missense_T524I exm1540133 20 36869005 [A/G] NM_001029864 KIAA1755 EXON Nonsense_R510X exm1540138 20 36869100 [T/C] NM_001029864 KIAA1755 EXON Missense_G478E exm1540139 20 36869101 [T/C] NM_001029864 KIAA1755 EXON Missense_G478R exm1540147 20 36869263 [A/G] NM_001029864 KIAA1755 EXON Missense_R424C exm1540151 20 36869385 [G/C] NM_001029864 KIAA1755 EXON Missense_C383S exm1540153 20 36869406 [A/G] NM_001029864 KIAA1755 EXON Missense_V376A exm1965161 20 36869463 [T/C] NM_001029864 KIAA1755 EXON Missense_N357S exm1540156 20 36869516 [A/C] NM_001029864 KIAA1755 EXON Missense_K339N exm1540164 20 36869728 [A/G] NM_001029864 KIAA1755 EXON Nonsense_Q269X exm1540167 20 36869769 [T/C] NM_001029864 KIAA1755 EXON Missense_R255Q exm1540190 20 36870315 [T/C] NM_001029864 KIAA1755 EXON Missense_C73Y exm1540191 20 36870331 [T/C] NM_001029864 KIAA1755 EXON Missense_A68T exm1540193 20 36874344 [T/C] NM_001029864 KIAA1755 EXON Missense_R63Q exm1540201 20 36874450 [T/C] NM_001029864 KIAA1755 EXON Missense_V28I exm2254257 20 36921857 [A/G] exm1540216 20 36932627 [T/G] NM_001725 BPI EXON Missense_M5R exm1540219 20 36932647 [A/G] NM_001725 BPI EXON Missense_A12T exm1540220 20 36932648 [T/C] NM_001725 BPI EXON Missense_A12V exm2254258 20 36932676 [C/G] NM_001725 BPI EXON Synonymous_L21L exm1540228 20 36932719 [A/G] NM_001725 BPI EXON Missense_V36I exm1540230 20 36932755 [A/G] NM_001725 BPI EXON Missense_A48T exm1540236 20 36937342 [T/C] NM_001725 BPI EXON Missense_R90C exm1540242 20 36937432 [A/G] NM_001725 BPI EXON Missense_G120R exm1540243 20 36937461 [A/G] NM_001725 BPI Silent exm1540250 20 36938924 [C/G] NM_001725 BPI EXON Missense_E140Q exm1540253 20 36938936 [A/G] NM_001725 BPI EXON Missense_I144V exm1540260 20 36939029 [A/G] NM_001725 BPI EXON Missense_V175M exm1540263 20 36940314 [T/C] NM_001725 BPI EXON Missense_A196V exm1540271 20 36946848 [A/G] NM_001725 BPI EXON Missense_E216K exm1540272 20 36946875 [A/C] NM_001725 BPI EXON Missense_P225T exm1540278 20 36952300 [A/G] NM_001725 BPI EXON Missense_N266S exm1540280 20 36952335 [T/C] NM_001725 BPI EXON Missense_P278S exm1540283 20 36952342 [T/C] NM_001725 BPI EXON Missense_A280V exm1540295 20 36954670 [A/G] NM_001725 BPI EXON Missense_A337T exm1540299 20 36954724 [T/C] NM_001725 BPI EXON Missense_P355S exm1540303 20 36954790 [A/G] NM_001725 BPI EXON Missense_V377I exm1540306 20 36955991 [A/G] NM_001725 BPI EXON Missense_H392R exm1540309 20 36956026 [A/G] NM_001725 BPI EXON Missense_N404D exm-rs6024905 20 36957837 [A/G] NM_001725 BPI Silent exm1540317 20 36962894 [T/C] NM_001725 BPI EXON Synonymous_N449N exm1540319 20 36964002 [A/G] NM_001725 BPI EXON Missense_K451E exm1540323 20 36964033 [T/C] NM_001725 BPI EXON Missense_P461L exm1540325 20 36964056 [A/G] NM_001725 BPI EXON Missense_V469I exm1540328 20 36965563 [A/G] NM_001725 BPI EXON Missense_G481S exm1540329 20 36965569 [G/C] NM_001725 BPI EXON Missense_D483H exm1540333 20 36974945 [T/C] NM_004139 LBP EXON Missense_P9L exm1540339 20 36975013 [A/G] NM_004139 LBP EXON Missense_A32T exm1540342 20 36977952 [A/G] NM_004139 LBP EXON Synonymous_A42A exm1540348 20 36978037 [A/G] NM_004139 LBP EXON Missense_V71I exm1965232 20 36978047 [A/G] NM_004139 LBP EXON Missense_G74E exm1540350 20 36978066 [T/G] NM_004139 LBP Silent exm1540359 20 36979309 [T/A] NM_004139 LBP EXON Missense_V112D exm1540360 20 36979329 [A/C] NM_004139 LBP EXON Missense_R119S exm1540361 20 36982688 [A/C] NM_004139 LBP EXON Missense_L125I exm1540362 20 36982689 [T/A] NM_004139 LBP EXON Missense_L125Q exm1540366 20 36982754 [A/G] NM_004139 LBP EXON Missense_E147K exm1540368 20 36982767 [A/G] NM_004139 LBP EXON Missense_R151K exm1540370 20 36982779 [C/G] NM_004139 LBP EXON Missense_T155S exm1540371 20 36982785 [C/G] NM_004139 LBP EXON Missense_S157C exm1540373 20 36982805 [A/G] NM_004139 LBP EXON Missense_A164T exm1540375 20 36982811 [A/G] NM_004139 LBP EXON Missense_V166M exm1540376 20 36982816 [T/G] NM_004139 LBP EXON Missense_E167D exm1540384 20 36989357 [T/G] NM_004139 LBP Silent exm1540385 20 36989364 [A/G] NM_004139 LBP EXON Missense_E199K exm1540388 20 36989391 [A/G] NM_004139 LBP EXON Missense_D208N exm1540390 20 36989410 [A/G] NM_004139 LBP EXON Missense_Q214R exm1540395 20 36992643 [A/G] NM_004139 LBP EXON Missense_D223N exm1540399 20 36992702 [A/G] NM_004139 LBP EXON Missense_M242I exm1540402 20 36993231 [A/G] NM_004139 LBP EXON Missense_G249D exm1540403 20 36993333 [A/G] NM_004139 LBP EXON Missense_D283G exm1540412 20 36995464 [A/G] NM_004139 LBP EXON Missense_V325I exm1540414 20 36995471 [A/G] NM_004139 LBP EXON Missense_R327Q exm1540419 20 36997655 [T/C] NM_004139 LBP EXON Missense_P333L exm1540421 20 36997672 [T/C] NM_004139 LBP EXON Missense_L339F exm1540422 20 36997687 [T/C] NM_004139 LBP EXON Missense_P344S exm1540425 20 36997748 [T/C] NM_004139 LBP EXON Missense_I364T exm1540428 20 36997795 [T/C] NM_004139 LBP EXON Missense_R380W exm1540432 20 36999382 [A/G] NM_004139 LBP EXON Missense_A384T exm1540445 20 37001761 [T/C] NM_004139 LBP EXON Missense_F436L exm1540446 20 37001771 [A/C] NM_004139 LBP EXON Missense_K439T exm1540452 20 37002589 [A/G] NM_004139 LBP EXON Missense_A445T exm2254259 20 37002591 [T/C] NM_004139 LBP EXON Synonymous_A445A exm1540454 20 37002618 [T/G] NM_004139 LBP EXON Missense_K454N exm1540455 20 37002620 [A/G] NM_004139 LBP EXON Missense_R455H exm2272930 20 37014567 [T/C] exm1540486 20 37117191 [A/G] NM_020336 RALGAPB EXON Missense_R39H exm1540502 20 37128264 [G/C] NM_020336 RALGAPB EXON Missense_A243G exm1540506 20 37137805 [A/C] NM_020336 RALGAPB EXON Missense_N276H exm1540534 20 37154145 [A/G] NM_020336 RALGAPB EXON Missense_G629D exm1540536 20 37154592 [A/G] NM_020336 RALGAPB EXON Missense_I653V exm1540540 20 37161413 [A/G] NM_020336 RALGAPB EXON Missense_N719S exm1540543 20 37161446 [T/C] NM_020336 RALGAPB EXON Missense_T730M exm1540546 20 37161494 [T/G] NM_020336 RALGAPB EXON Missense_R746I exm1540572 20 37179783 [G/C] NM_020336 RALGAPB EXON Missense_P1027A exm1965324 20 37182601 [A/G] NM_020336 RALGAPB EXON Missense_Q1085R exm1540579 20 37186987 [T/C] NM_020336 RALGAPB EXON Missense_T1141M exm1540581 20 37187004 [T/G] NM_020336 RALGAPB EXON Missense_D1147Y exm1540586 20 37191214 [T/C] NM_020336 RALGAPB EXON Missense_H1191Y exm1540588 20 37194041 [A/G] NM_020336 RALGAPB EXON Missense_N1246S exm1540596 20 37198538 [T/C] NM_020336 RALGAPB EXON Missense_P1321L exm1540597 20 37198582 [T/C] NM_020336 RALGAPB EXON Missense_P1336S exm1540599 20 37198625 [A/G] NM_020336 RALGAPB EXON Missense_R1350H exm1540609 20 37202908 [A/G] NM_020336 RALGAPB EXON Missense_V1420M exm1540617 20 37203537 [A/G] NM_020336 RALGAPB EXON Missense_R1471Q exm1540627 20 37209999 [T/C] NM_001018082 ADIG EXON Missense_R36C exm1540635 20 37214772 [T/G] NM_001018082 ADIG EXON Missense_K75N exm1540648 20 37252018 [A/G] NM_001164431 ARHGAP40 EXON Missense_G52S exm1540649 20 37252022 [A/G] NM_001164431 ARHGAP40 EXON Missense_R53Q exm1540650 20 37252054 [T/C] NM_001164431 ARHGAP40 EXON Nonsense_R64X exm1540656 20 37255691 [C/G] NM_001164431 ARHGAP40 EXON Missense_G130R exm1540658 20 37255769 [T/C] NM_001164431 ARHGAP40 EXON Missense_R156W exm1540663 20 37258196 [A/G] NM_001164431 ARHGAP40 EXON Missense_N228S exm1540664 20 37258198 [A/G] NM_001164431 ARHGAP40 EXON Missense_M229V exm1540666 20 37258265 [T/C] NM_001164431 ARHGAP40 EXON Missense_T251I exm1540673 20 37263408 [T/C] NM_001164431 ARHGAP40 EXON Missense_A309V exm1540677 20 37267924 [A/G] NM_001164431 ARHGAP40 EXON Missense_E391K exm1540681 20 37268017 [A/G] NM_001164431 ARHGAP40 EXON Missense_A422T exm1540686 20 37272380 [T/C] NM_001164431 ARHGAP40 EXON Missense_R465W exm1540687 20 37272390 [T/A] NM_001164431 ARHGAP40 EXON Missense_H468L exm1540690 20 37272530 [A/C] NM_001164431 ARHGAP40 EXON Missense_H515N exm1540693 20 37274744 [C/G] NM_001164431 ARHGAP40 EXON Missense_R541G exm1540705 20 37353483 [A/G] NM_080552 SLC32A1 EXON Missense_E39G exm1540718 20 37356282 [T/G] NM_080552 SLC32A1 EXON Missense_C193F exm1540733 20 37356719 [A/G] NM_080552 SLC32A1 EXON Missense_M339V exm1540739 20 37356971 [A/G] NM_080552 SLC32A1 EXON Missense_S423G exm1540745 20 37357266 [A/C] NM_080552 SLC32A1 EXON Missense_T521N exm1540765 20 37378721 [A/G] NM_024855 ACTR5 EXON Missense_M148I exm1540800 20 37384681 [A/C] NM_024855 ACTR5 EXON Missense_E392A exm1540812 20 37394884 [A/G] NM_024855 ACTR5 EXON Missense_V433M exm1540813 20 37394933 [T/C] NM_024855 ACTR5 EXON Missense_I449T exm1540815 20 37394968 [T/A] NM_024855 ACTR5 EXON Missense_I461L exm1540819 20 37396114 [A/G] NM_024855 ACTR5 EXON Missense_K481E exm1540821 20 37396120 [A/G] NM_024855 ACTR5 EXON Missense_I483V exm1540836 20 37400374 [T/C] NM_024855 ACTR5 EXON Missense_P580L exm1540860 20 37464755 [A/G] NM_001172735,NM_015568 PPP1R16B,PPP1R16B EXON Missense_K63E,Missense_K63E exm2254260 20 37492316 [T/C] NM_001172735,NM_015568 PPP1R16B,PPP1R16B Silent,Silent exm1540872 20 37529279 [A/G] NM_001172735,NM_015568 PPP1R16B,PPP1R16B EXON Missense_E175K,Missense_E175K exm2254261 20 37546820 [T/C] NM_001172735,NM_015568 PPP1R16B,PPP1R16B EXON Synonymous_P363P,Synonymous_P405P exm1540912 20 37547010 [T/A] NM_001172735,NM_015568 PPP1R16B,PPP1R16B EXON Missense_W427R,Missense_W469R exm1540914 20 37547022 [A/C] NM_001172735,NM_015568 PPP1R16B,PPP1R16B EXON Missense_K431Q,Missense_K473Q exm1540919 20 37547086 [A/G] NM_001172735,NM_015568 PPP1R16B,PPP1R16B EXON Missense_S452N,Missense_S494N exm1540925 20 37547220 [A/G] NM_001172735,NM_015568 PPP1R16B,PPP1R16B EXON Missense_V497I,Missense_V539I exm1540932 20 37555069 [C/G] NM_030919 FAM83D EXON Missense_S25W exm1540946 20 37570620 [A/G] NM_030919 FAM83D EXON Missense_D198N exm1540958 20 37580316 [A/G] NM_030919 FAM83D EXON Missense_H334R exm1540961 20 37580385 [A/G] NM_030919 FAM83D EXON Missense_G357D exm1540963 20 37580402 [T/C] NM_030919 FAM83D EXON Missense_R363W exm1540970 20 37580477 [T/C] NM_030919 FAM83D EXON Missense_R388C exm1540976 20 37580618 [A/G] NM_030919 FAM83D EXON Missense_S435G exm1540977 20 37580670 [C/G] NM_030919 FAM83D EXON Missense_T452S exm1540978 20 37580715 [T/C] NM_030919 FAM83D EXON Missense_S467F exm1540984 20 37580965 [C/G] NM_030919 FAM83D EXON Missense_L550F exm1540985 20 37580996 [T/C] NM_030919 FAM83D EXON Missense_R561W exm1965524 20 37597822 [A/G] NM_021931,NR_033905,NM_001190809 DHX35,DHX35,DHX35 EXON Missense_I47V,Silent,Missense_I47V exm1541007 20 37597847 [T/C] NM_021931,NR_033905,NM_001190809 DHX35,DHX35,DHX35 EXON Missense_P55L,Silent,Missense_P55L exm1541017 20 37617539 [C/G] NM_021931,NR_033905,NM_001190809 DHX35,DHX35,DHX35 EXON Missense_D143E,Silent,Missense_D112E exm1541023 20 37621052 [T/C] NM_021931,NR_033905,NM_001190809 DHX35,DHX35,DHX35 EXON Missense_I189T,Silent,Missense_I158T exm2254262 20 37621053 [T/C] NM_021931,NR_033905,NM_001190809 DHX35,DHX35,DHX35 EXON Synonymous_I189I,Silent,Synonymous_I158I exm1541024 20 37621053 [T/C] NM_021931,NR_033905,NM_001190809 DHX35,DHX35,DHX35 EXON Synonymous_I189I,Silent,Synonymous_I158I exm1541026 20 37623468 [A/G] NM_021931,NR_033905,NM_001190809 DHX35,DHX35,DHX35 EXON Missense_Q196R,Silent,Missense_Q165R exm1541036 20 37630439 [A/G] NM_021931,NR_033905,NM_001190809 DHX35,DHX35,DHX35 EXON Missense_T237A,Silent,Missense_T206A exm1541040 20 37631440 [A/C] NM_021931,NR_033905,NM_001190809 DHX35,DHX35,DHX35 EXON Missense_T261P,Silent,Missense_T230P exm1541049 20 37632437 [A/G] NM_021931,NR_033905,NM_001190809 DHX35,DHX35,DHX35 EXON Missense_A300T,Silent,Missense_A269T exm1541051 20 37632498 [G/C] NM_021931,NR_033905,NM_001190809 DHX35,DHX35,DHX35 EXON Missense_P320R,Silent,Missense_P289R exm1541055 20 37634828 [A/G] NM_021931,NR_033905,NM_001190809 DHX35,DHX35,DHX35 EXON Missense_I351V,Silent,Missense_I320V exm1541059 20 37634873 [T/C] NM_021931,NR_033905,NM_001190809 DHX35,DHX35,DHX35 EXON Nonsense_R366X,Silent,Nonsense_R335X exm1541060 20 37634879 [T/C] NM_021931,NR_033905,NM_001190809 DHX35,DHX35,DHX35 EXON Missense_Y368H,Silent,Missense_Y337H exm1541061 20 37634909 [G/C] NM_021931,NR_033905,NM_001190809 DHX35,DHX35,DHX35 EXON Missense_V378L,Silent,Missense_V347L exm1541069 20 37638947 [T/A] NM_021931,NR_033905,NM_001190809 DHX35,DHX35,DHX35 EXON Missense_Q416L,Silent,Missense_Q385L exm1541073 20 37639022 [A/G] NM_021931,NR_033905,NM_001190809 DHX35,DHX35,DHX35 EXON Missense_N441S,Silent,Missense_N410S exm1541079 20 37647448 [T/G] NM_021931,NR_033905,NM_001190809 DHX35,DHX35,DHX35 EXON Synonymous_G468G,Silent,Synonymous_G437G exm1541085 20 37650519 [A/G] NM_021931,NR_033905,NM_001190809 DHX35,DHX35,DHX35 EXON Missense_A512T,Silent,Missense_A481T exm1541087 20 37650556 [T/C] NM_021931,NR_033905,NM_001190809 DHX35,DHX35,DHX35 EXON Missense_P524L,Silent,Missense_P493L exm2276719 20 37650576 [A/G] NM_021931,NR_033905,NM_001190809 DHX35,DHX35,DHX35 EXON Missense_A531T,Silent,Missense_A500T exm1541091 20 37652337 [A/G] NM_021931,NR_033905,NM_001190809 DHX35,DHX35,DHX35 EXON Missense_R533Q,Silent,Missense_R502Q exm1541092 20 37652345 [T/C] NM_021931,NR_033905,NM_001190809 DHX35,DHX35,DHX35 EXON Missense_R536C,Silent,Missense_R505C exm1541106 20 37657087 [A/G] NM_021931,NR_033905,NM_001190809 DHX35,DHX35,DHX35 EXON Missense_I610V,Silent,Missense_I579V exm1541109 20 37657129 [A/G] NM_021931,NR_033905,NM_001190809 DHX35,DHX35,DHX35 EXON Missense_T624A,Silent,Missense_T593A exm1541114 20 37659385 [T/C] NM_021931,NR_033905,NM_001190809 DHX35,DHX35,DHX35 EXON Missense_A641V,Silent,Missense_A610V exm1541115 20 37659414 [T/C] NM_021931,NR_033905,NM_001190809 DHX35,DHX35,DHX35 EXON Missense_R651C,Silent,Missense_R620C exm1541121 20 37667148 [T/C] NM_021931,NR_033905,NM_001190809 DHX35,DHX35,DHX35 EXON Missense_S692P,Silent,Missense_S661P exm1541124 20 37667182 [T/C] NM_021931,NR_033905,NM_001190809 DHX35,DHX35,DHX35 EXON Missense_P703L,Silent,Missense_P672L exm-rs926392 20 37690464 [A/G] exm-rs4812381 20 37987560 [A/G] exm-rs6028466 20 38129002 [A/G] exm2268294 20 38149274 [A/G] exm2260934 20 38233163 [T/C] exm2254269 20 38478566 [A/G] exm2260935 20 39082308 [A/G] exm2254270 20 39154095 [A/G] exm-rs6102059 20 39228784 [T/C] exm2254271 20 39465634 [T/C] exm2268341 20 39544887 [A/G] exm-rs6029526 20 39672618 [A/T] NM_003286 TOP1 Silent exm1541164 20 39704896 [T/C] NM_003286 TOP1 EXON Missense_H81Y exm1541187 20 39726889 [A/G] NM_003286 TOP1 EXON Missense_N296S exm-rs6072275 20 39743905 [A/G] NM_003286 TOP1 Silent exm1541211 20 39750405 [A/G] NM_003286 TOP1 EXON Missense_V674I exm1541239 20 39791176 [A/G] NM_182811,NM_002660 PLCG1,PLCG1 EXON Synonymous_T199T,Synonymous_T199T exm1541242 20 39791310 [A/C] NM_182811,NM_002660 PLCG1,PLCG1 EXON Missense_T209N,Missense_T209N exm1541244 20 39791364 [T/C] NM_182811,NM_002660 PLCG1,PLCG1 EXON Missense_T227M,Missense_T227M exm1541248 20 39791880 [A/C] NM_182811,NM_002660 PLCG1,PLCG1 EXON Missense_P252T,Missense_P252T exm1541253 20 39792063 [A/G] NM_182811,NM_002660 PLCG1,PLCG1 EXON Missense_S279G,Missense_S279G exm1541259 20 39792419 [T/C] NM_182811,NM_002660 PLCG1,PLCG1 EXON Missense_P319L,Missense_P319L exm1541282 20 39794007 [T/C] NM_182811,NM_002660 PLCG1,PLCG1 EXON Synonymous_H503H,Synonymous_H503H exm1541317 20 39797465 [T/C] NM_182811,NM_002660 PLCG1,PLCG1 EXON Missense_I813T,Missense_I813T exm1541333 20 39798806 [T/C] NM_182811,NM_002660 PLCG1,PLCG1 EXON Missense_A902V,Missense_A902V exm1541334 20 39798809 [T/C] NM_182811,NM_002660 PLCG1,PLCG1 EXON Missense_S903L,Missense_S903L exm1541337 20 39798841 [A/G] NM_182811,NM_002660 PLCG1,PLCG1 EXON Missense_D914N,Missense_D914N exm1541367 20 39802631 [A/G] NM_182811,NM_002660 PLCG1,PLCG1 EXON Missense_I1209V,Missense_I1209V exm1541374 20 39802813 [A/G] NM_182811,NM_002660 PLCG1,PLCG1 EXON Missense_R1231Q,Missense_R1232Q exm1541376 20 39802851 [A/G] NM_182811,NM_002660 PLCG1,PLCG1 EXON Missense_A1244T,Missense_A1245T exm1541399 20 39831021 [A/T] NM_015035 ZHX3 EXON Missense_N846Y exm1541410 20 39831308 [T/A] NM_015035 ZHX3 EXON Missense_D750V exm1541415 20 39831407 [A/G] NM_015035 ZHX3 EXON Missense_L717S exm1541424 20 39831546 [T/C] NM_015035 ZHX3 EXON Missense_E671K exm1541445 20 39832013 [T/C] NM_015035 ZHX3 EXON Missense_R515Q exm1541451 20 39832136 [T/C] NM_015035 ZHX3 EXON Missense_N474S exm1541456 20 39832242 [T/C] NM_015035 ZHX3 EXON Missense_T439A exm1541461 20 39832328 [A/G] NM_015035 ZHX3 EXON Missense_L410P exm1541466 20 39832371 [T/C] NM_015035 ZHX3 EXON Missense_V396I exm1541485 20 39832628 [T/C] NM_015035 ZHX3 EXON Missense_N310S exm1541487 20 39832650 [C/G] NM_015035 ZHX3 EXON Missense_L303V exm1541490 20 39832683 [T/C] NM_015035 ZHX3 EXON Missense_T292A exm1541521 20 39833324 [A/G] NM_015035 ZHX3 EXON Missense_S78F exm1541528 20 39833403 [T/C] NM_015035 ZHX3 EXON Missense_A52T exm1541537 20 39974453 [A/G] NM_022896 LPIN3 EXON Missense_V4M exm1541541 20 39974484 [T/C] NM_022896 LPIN3 EXON Missense_T14M exm1541550 20 39974564 [A/G] NM_022896 LPIN3 EXON Missense_G41S exm1965875 20 39974573 [T/C] NM_022896 LPIN3 EXON Missense_R44W exm1541558 20 39974612 [A/G] NM_022896 LPIN3 EXON Missense_V57I exm1541560 20 39974619 [A/G] NM_022896 LPIN3 EXON Missense_R59Q exm1541562 20 39974624 [T/C] NM_022896 LPIN3 EXON Missense_R61W exm1541564 20 39974637 [T/C] NM_022896 LPIN3 Silent exm1541567 20 39976284 [A/T] NM_022896 LPIN3 EXON Missense_D95E exm1541570 20 39977300 [C/G] NM_022896 LPIN3 EXON Missense_W110C exm2234443 20 39977305 [A/G] NM_022896 LPIN3 EXON Missense_G112D exm1541575 20 39977364 [A/G] NM_022896 LPIN3 EXON Missense_V132I exm1541579 20 39977392 [A/G] NM_022896 LPIN3 EXON Missense_R141Q exm1965887 20 39977404 [A/G] NM_022896 LPIN3 EXON Missense_R145H exm1541580 20 39977500 [T/C] NM_022896 LPIN3 EXON Missense_P177L exm1541581 20 39977512 [A/G] NM_022896 LPIN3 EXON Missense_R181K exm1541582 20 39977742 [A/G] NM_022896 LPIN3 EXON Missense_E190K exm1541583 20 39977770 [A/C] NM_022896 LPIN3 EXON Missense_D199A exm1541587 20 39978452 [T/C] NM_022896 LPIN3 EXON Missense_S226L exm1541593 20 39978710 [T/C] NM_022896 LPIN3 EXON Missense_R259W exm1965898 20 39978803 [A/G] NM_022896 LPIN3 EXON Missense_G290S exm1541604 20 39978946 [T/G] NM_022896 LPIN3 EXON Missense_M337I exm1541606 20 39978998 [G/C] NM_022896 LPIN3 EXON Missense_V355L exm2275315 20 39980462 [T/C] NM_022896 LPIN3 EXON Synonymous_G368G exm1541620 20 39981266 [A/G] NM_022896 LPIN3 EXON Missense_V462I exm1541630 20 39983321 [T/C] NM_022896 LPIN3 EXON Missense_R522W exm1965915 20 39983322 [A/G] NM_022896 LPIN3 EXON Missense_R522Q exm1541631 20 39983334 [A/G] NM_022896 LPIN3 EXON Missense_R526Q exm1541633 20 39983372 [A/G] NM_022896 LPIN3 EXON Missense_E539K exm1541641 20 39984633 [T/C] NM_022896 LPIN3 EXON Missense_P588S exm2254272 20 39984665 [G/C] NM_022896 LPIN3 EXON Synonymous_S598S exm1541645 20 39984674 [T/C] NM_022896 LPIN3 EXON Synonymous_I601I exm1541651 20 39985746 [A/C] NM_022896 LPIN3 EXON Missense_T624P exm1541657 20 39986085 [A/C] NM_022896 LPIN3 EXON Missense_Q679H exm1541672 20 39986914 [A/G] NM_022896 LPIN3 EXON Missense_A744T exm1541680 20 39987101 [T/G] NM_022896 LPIN3 EXON Missense_V777G exm1541682 20 39987112 [G/C] NM_022896 LPIN3 EXON Missense_E781Q exm1541683 20 39987118 [T/C] NM_022896 LPIN3 EXON Missense_R783C exm1965927 20 39987140 [A/G] NM_022896 LPIN3 EXON Missense_R790Q exm1965928 20 39987182 [T/C] NM_022896 LPIN3 EXON Missense_T804M exm1541722 20 39990159 [C/G] NM_052846 EMILIN3 EXON Missense_H684D exm1541727 20 39990263 [G/C] NM_052846 EMILIN3 EXON Missense_R649T exm1541728 20 39990266 [A/T] NM_052846 EMILIN3 EXON Missense_H648L exm1541731 20 39990315 [T/C] NM_052846 EMILIN3 EXON Missense_A632T exm1965932 20 39990338 [T/C] NM_052846 EMILIN3 EXON Missense_R624H exm1541734 20 39990377 [C/G] NM_052846 EMILIN3 EXON Missense_A611G exm1541758 20 39990609 [T/C] NM_052846 EMILIN3 EXON Missense_V534M exm1541759 20 39990614 [T/C] NM_052846 EMILIN3 EXON Missense_S532N exm1541767 20 39990711 [A/G] NM_052846 EMILIN3 EXON Missense_R500W exm1541776 20 39990791 [T/C] NM_052846 EMILIN3 EXON Missense_R473H exm1541800 20 39991022 [T/C] NM_052846 EMILIN3 EXON Missense_D396G exm1541807 20 39991136 [T/C] NM_052846 EMILIN3 EXON Missense_R358Q exm1541820 20 39991293 [G/C] NM_052846 EMILIN3 EXON Missense_R306G exm1541828 20 39991463 [T/C] NM_052846 EMILIN3 EXON Missense_D249G exm1541835 20 39991611 [A/G] NM_052846 EMILIN3 EXON Missense_L200F exm1541837 20 39991635 [A/G] NM_052846 EMILIN3 EXON Missense_R192C exm1541845 20 39992343 [T/G] NM_052846 EMILIN3 EXON Missense_P150H exm1541848 20 39992391 [A/G] NM_052846 EMILIN3 EXON Missense_T134M exm2275149 20 39992409 [G/C] NM_052846 EMILIN3 EXON Missense_R128P exm1541856 20 39992496 [T/C] NM_052846 EMILIN3 EXON Missense_R99H exm1541862 20 39993724 [T/C] NM_052846 EMILIN3 EXON Missense_A81T exm1541865 20 39993730 [T/C] NM_052846 EMILIN3 EXON Missense_V79I exm2272897 20 40007970 [T/C] exm1541875 20 40033295 [T/C] NM_032221 CHD6 EXON Missense_R2696G exm1541888 20 40033729 [A/G] NM_032221 CHD6 EXON Missense_P2551L exm1541893 20 40033870 [A/G] NM_032221 CHD6 EXON Missense_T2504M exm1541899 20 40034017 [G/C] NM_032221 CHD6 EXON Missense_S2455C exm1541908 20 40040788 [A/G] NM_032221 CHD6 EXON Missense_L2416P exm1541909 20 40040825 [C/G] NM_032221 CHD6 EXON Missense_E2404Q exm1541911 20 40040870 [A/G] NM_032221 CHD6 EXON Missense_R2389C exm1541913 20 40041972 [A/G] NM_032221 CHD6 EXON Missense_F2375L exm1541915 20 40041990 [T/A] NM_032221 CHD6 EXON Missense_S2369T exm1541921 20 40042131 [T/C] NM_032221 CHD6 EXON Missense_A2322T exm1541935 20 40044055 [C/G] NM_032221 CHD6 EXON Missense_A2237G exm1541937 20 40044091 [T/C] NM_032221 CHD6 EXON Missense_G2225E exm1541939 20 40044121 [A/G] NM_032221 CHD6 EXON Missense_S2215L exm1965984 20 40044194 [G/C] NM_032221 CHD6 EXON Missense_A2191P exm1541946 20 40045231 [C/G] NM_032221 CHD6 EXON Missense_H2161Q exm1541950 20 40045257 [T/C] NM_032221 CHD6 EXON Missense_G2153S exm1541958 20 40045902 [T/C] NM_032221 CHD6 EXON Missense_R2072Q exm1965993 20 40049202 [T/C] NM_032221 CHD6 EXON Missense_M2025V exm1541966 20 40049250 [T/C] NM_032221 CHD6 EXON Missense_V2009I exm1965996 20 40049349 [T/C] NM_032221 CHD6 EXON Missense_A1976T exm1541973 20 40049424 [T/C] NM_032221 CHD6 EXON Missense_E1951K exm1541975 20 40049450 [T/A] NM_032221 CHD6 EXON Missense_H1942L exm1541980 20 40049579 [T/A] NM_032221 CHD6 EXON Missense_N1899I exm1541981 20 40049586 [T/C] NM_032221 CHD6 EXON Missense_T1897A exm1541984 20 40049690 [T/C] NM_032221 CHD6 EXON Missense_N1862S exm1541986 20 40049753 [T/C] NM_032221 CHD6 EXON Missense_D1841G exm1541991 20 40049873 [T/C] NM_032221 CHD6 EXON Missense_N1801S exm1542007 20 40050314 [A/G] NM_032221 CHD6 EXON Missense_S1654F exm1542023 20 40050491 [T/C] NM_032221 CHD6 EXON Missense_R1595H exm1542032 20 40050719 [T/C] NM_032221 CHD6 EXON Missense_G1519D exm1542033 20 40052133 [A/G] NM_032221 CHD6 EXON Synonymous_G1518G exm1542036 20 40052215 [A/G] NM_032221 CHD6 EXON Missense_S1491L exm1542040 20 40053863 [T/C] NM_032221 CHD6 EXON Missense_R1434K exm1542043 20 40053987 [T/C] NM_032221 CHD6 EXON Missense_A1393T exm1542049 20 40054766 [T/C] NM_032221 CHD6 EXON Missense_V1366I exm1542051 20 40068692 [T/A] NM_032221 CHD6 EXON Missense_S1319T exm1542065 20 40079594 [C/G] NM_032221 CHD6 EXON Missense_H1225Q exm1542067 20 40079655 [G/C] NM_032221 CHD6 EXON Missense_A1205G exm2254273 20 40080554 [A/G] NM_032221 CHD6 EXON Synonymous_Y1145Y exm1542079 20 40081419 [A/G] NM_032221 CHD6 EXON Missense_A1095V exm1542096 20 40084599 [T/C] NM_032221 CHD6 EXON Missense_M950I exm1542155 20 40161792 [T/C] NM_032221 CHD6 EXON Missense_A151T exm1966078 20 40161851 [C/G] NM_032221 CHD6 EXON Missense_R131T exm1542162 20 40161930 [G/C] NM_032221 CHD6 EXON Missense_E105Q exm1542173 20 40162203 [T/C] NM_032221 CHD6 EXON Missense_N14D exm2272898 20 40483420 [T/C] exm2275150 20 40710573 [G/C] NM_007050,NM_133170 PTPRT,PTPRT EXON Missense_F1407L,Missense_F1426L exm1542186 20 40710643 [T/C] NM_007050,NM_133170 PTPRT,PTPRT EXON Missense_R1384H,Missense_R1403H exm1542192 20 40713364 [T/C] NM_007050,NM_133170 PTPRT,PTPRT EXON Missense_E1365G,Missense_E1384G exm1542194 20 40713421 [A/G] NM_007050,NM_133170 PTPRT,PTPRT EXON Missense_T1346M,Missense_T1365M exm1542201 20 40714457 [A/T] NM_007050,NM_133170 PTPRT,PTPRT EXON Missense_C1295S,Missense_C1314S exm1542211 20 40727162 [T/C] NM_007050,NM_133170 PTPRT,PTPRT EXON Missense_T1249A,Missense_T1268A exm1542213 20 40727174 [T/C] NM_007050,NM_133170 PTPRT,PTPRT EXON Missense_A1245T,Missense_A1264T exm1542216 20 40730775 [T/C] NM_007050,NM_133170 PTPRT,PTPRT EXON Missense_A1235T,Missense_A1254T exm1542220 20 40730856 [T/C] NM_007050,NM_133170 PTPRT,PTPRT EXON Missense_S1208G,Missense_S1227G exm1542222 20 40730891 [A/G] NM_007050,NM_133170 PTPRT,PTPRT EXON Missense_I1196T,Missense_I1215T exm1542227 20 40733305 [T/G] NM_007050,NM_133170 PTPRT,PTPRT EXON Missense_N1148K,Missense_N1167K exm1542229 20 40735430 [G/C] NM_007050,NM_133170 PTPRT,PTPRT EXON Missense_T1129R,Missense_T1148R exm1542232 20 40735466 [T/C] NM_007050,NM_133170 PTPRT,PTPRT EXON Missense_R1117H,Missense_R1136H exm1542248 20 40743919 [A/C] NM_007050,NM_133170 PTPRT,PTPRT EXON Missense_V1007F,Missense_V1026F exm1542249 20 40743924 [A/G] NM_007050,NM_133170 PTPRT,PTPRT EXON Missense_T1005M,Missense_T1024M exm1542250 20 40743945 [A/G] NM_007050,NM_133170 PTPRT,PTPRT EXON Missense_V998A,Missense_V1017A exm2260937 20 40744399 [T/C] NM_007050,NM_133170 PTPRT,PTPRT Silent,Silent exm1542257 20 40747075 [T/C] NM_007050,NM_133170 PTPRT,PTPRT EXON Missense_V984I,Missense_V1003I exm1542261 20 40748601 [T/C] NM_007050,NM_133170 PTPRT,PTPRT EXON Missense_R953Q,Missense_R972Q exm1542267 20 40757444 [C/G] NM_007050,NM_133170 PTPRT,PTPRT EXON Missense_V933L,Missense_V952L exm2268297 20 40783392 [A/G] NM_007050,NM_133170 PTPRT,PTPRT Silent,Silent exm1966128 20 40790173 [A/C] NM_007050,NM_133170 PTPRT,PTPRT EXON Missense_S834I,Missense_S853I exm1542284 20 40827886 [T/C] NM_007050,NM_133170 PTPRT,PTPRT EXON Missense_G829R,Missense_G848R exm1542288 20 40827934 [T/C] NM_007050,NM_133170 PTPRT,PTPRT EXON Missense_A813T,Missense_A832T exm1542295 20 40877358 [G/C] NM_007050,NM_133170 PTPRT,PTPRT EXON Missense_L761V,Missense_L780V exm1542304 20 40899066 [A/G] NM_007050,NM_133170 PTPRT,PTPRT EXON Silent,Missense_P735L exm1542312 20 40944545 [A/G] NM_007050,NM_133170 PTPRT,PTPRT EXON Missense_R653W,Missense_R653W exm1542320 20 40979359 [A/G] NM_007050,NM_133170 PTPRT,PTPRT EXON Missense_P592S,Missense_P592S exm1542336 20 41076891 [T/C] NM_007050,NM_133170 PTPRT,PTPRT EXON Missense_N510S,Missense_N510S exm1542347 20 41101050 [T/C] NM_007050,NM_133170 PTPRT,PTPRT EXON Missense_E436K,Missense_E436K exm1542350 20 41101154 [T/C] NM_007050,NM_133170 PTPRT,PTPRT EXON Missense_R401Q,Missense_R401Q exm1542352 20 41101170 [T/C] NM_007050,NM_133170 PTPRT,PTPRT EXON Missense_V396I,Missense_V396I exm1542364 20 41306627 [T/G] NM_007050,NM_133170 PTPRT,PTPRT EXON Missense_N344K,Missense_N344K exm1542373 20 41385177 [T/C] NM_007050,NM_133170 PTPRT,PTPRT EXON Missense_V262I,Missense_V262I exm2268298 20 41400229 [A/G] NM_007050,NM_133170 PTPRT,PTPRT Silent,Silent exm1542397 20 41420014 [T/G] NM_007050,NM_133170 PTPRT,PTPRT EXON Missense_I103L,Missense_I103L exm1542398 20 41420095 [T/C] NM_007050,NM_133170 PTPRT,PTPRT EXON Missense_M76V,Missense_M76V exm1542399 20 41514512 [T/C] NM_007050,NM_133170 PTPRT,PTPRT EXON Missense_N50S,Missense_N50S exm1542402 20 41514552 [C/G] NM_007050,NM_133170 PTPRT,PTPRT EXON Missense_H37D,Missense_H37D exm2254278 20 41616510 [A/G] NM_007050,NM_133170 PTPRT,PTPRT Silent,Silent exm1542426 20 42088842 [A/G] NR_034009,NM_006275 SRSF6,SRSF6 EXON Silent,Missense_R184H exm1542428 20 42088845 [A/C] NR_034009,NM_006275 SRSF6,SRSF6 EXON Silent,Missense_T185K exm1542442 20 42089366 [A/G] NR_034009,NM_006275 SRSF6,SRSF6 EXON Silent,Missense_R233Q exm1542446 20 42089486 [A/G] NR_034009,NM_006275 SRSF6,SRSF6 EXON Silent,Missense_R273Q exm1966276 20 42089605 [T/C] NR_034009,NM_006275 SRSF6,SRSF6 EXON Silent,Missense_R313C exm1542467 20 42142225 [A/G] NM_032107 L3MBTL1 EXON Missense_G6R exm2234467 20 42143201 [T/G] NM_032107,NM_015478 L3MBTL1,L3MBTL1 EXON Silent,Missense_G6V exm1542472 20 42143218 [T/G] NM_032107,NM_015478 L3MBTL1,L3MBTL1 EXON Silent,Nonsense_E12X exm1542475 20 42143266 [A/G] NM_032107,NM_015478 L3MBTL1,L3MBTL1 EXON Silent,Missense_A28T exm1542481 20 42143694 [T/C] NM_032107,NM_015478 L3MBTL1,L3MBTL1 EXON Missense_P161L,Missense_P93L exm1542487 20 42143784 [A/G] NM_032107,NM_015478 L3MBTL1,L3MBTL1 EXON Missense_Q191R,Missense_Q123R exm1542489 20 42143936 [A/G] NM_032107,NM_015478 L3MBTL1,L3MBTL1 EXON Missense_V198I,Missense_V130I exm1542503 20 42157374 [T/C] NM_032107,NM_015478 L3MBTL1,L3MBTL1 EXON Missense_L292F,Missense_L224F exm1966306 20 42159462 [A/G] NM_032107,NM_015478 L3MBTL1,L3MBTL1 EXON Nonsense_W384X,Nonsense_W316X exm1542518 20 42161555 [A/T] NM_032107,NM_015478 L3MBTL1,L3MBTL1 EXON Missense_Y454F,Missense_Y386F exm1542519 20 42161556 [T/G] NM_032107,NM_015478 L3MBTL1,L3MBTL1 EXON Nonsense_Y454X,Nonsense_Y386X exm1542530 20 42162730 [T/G] NM_032107,NM_015478 L3MBTL1,L3MBTL1 EXON Missense_K510N,Missense_K442N exm1542532 20 42162949 [A/G] NM_032107,NM_015478 L3MBTL1,L3MBTL1 EXON Missense_N520S,Missense_N452S exm1542538 20 42163031 [A/G] NM_032107,NM_015478 L3MBTL1,L3MBTL1 EXON Missense_I547M,Missense_I479M exm1542545 20 42163540 [A/G] NM_032107,NM_015478 L3MBTL1,L3MBTL1 EXON Missense_G573S,Missense_G505S exm1542556 20 42164829 [A/G] NM_032107,NM_015478 L3MBTL1,L3MBTL1 EXON Missense_R651K,Missense_R583K exm1542561 20 42164906 [T/C] NM_032107,NM_015478 L3MBTL1,L3MBTL1 EXON Missense_P677S,Missense_P609S exm1542585 20 42169589 [A/G] NM_032107,NM_015478 L3MBTL1,L3MBTL1 EXON Missense_V782M,Missense_V714M exm1542587 20 42169613 [G/C] NM_032107,NM_015478 L3MBTL1,L3MBTL1 EXON Missense_L790V,Missense_L722V exm1542593 20 42169725 [A/G] NM_032107,NM_015478 L3MBTL1,L3MBTL1 EXON Missense_H827R,Missense_H759R exm1542600 20 42194972 [T/C] NM_170693,NM_001199264,NM_016276 SGK2,SGK2,SGK2 EXON Silent,Silent,Missense_T6I exm1542622 20 42196316 [T/C] NM_170693,NM_001199264,NM_016276 SGK2,SGK2,SGK2 EXON Missense_T33M,Missense_T33M,Missense_T93M exm1542626 20 42196572 [A/G] NM_170693,NM_001199264,NM_016276 SGK2,SGK2,SGK2 EXON Missense_R54H,Missense_R54H,Missense_R114H exm1542628 20 42196593 [A/G] NM_170693,NM_001199264,NM_016276 SGK2,SGK2,SGK2 EXON Missense_Y61C,Missense_Y61C,Missense_Y121C exm1542642 20 42199300 [A/G] NM_170693,NM_001199264,NM_016276 SGK2,SGK2,SGK2 EXON Missense_R135Q,Missense_R135Q,Missense_R195Q exm1542666 20 42204880 [A/C] NM_170693,NM_001199264,NM_016276 SGK2,SGK2,SGK2 EXON Missense_Q237P,Missense_Q237P,Missense_Q297P exm1542670 20 42204913 [A/C] NM_170693,NM_001199264,NM_016276 SGK2,SGK2,SGK2 EXON Missense_H248P,Missense_H248P,Missense_H308P exm1542679 20 42208627 [T/C] NM_170693,NM_001199264,NM_016276 SGK2,SGK2,SGK2 EXON Missense_H289Y,Missense_H289Y,Missense_H349Y exm1542688 20 42223350 [C/G] NM_016004 IFT52 EXON Missense_E4D exm1542694 20 42225112 [A/G] NM_016004 IFT52 EXON Missense_V53M exm1542711 20 42242606 [A/G] NM_016004 IFT52 EXON Missense_Y201C exm1542720 20 42252537 [C/G] NM_016004 IFT52 EXON Missense_D259H exm1542724 20 42252606 [A/G] NM_016004 IFT52 EXON Missense_E282K exm1542730 20 42264573 [A/G] NM_016004 IFT52 EXON Missense_E311K exm1966387 20 42264652 [T/C] NM_016004 IFT52 EXON Missense_A337V exm1542736 20 42264653 [A/G] NM_016004 IFT52 EXON Synonymous_A337A exm1542738 20 42265804 [A/G] NM_016004 IFT52 EXON Missense_R344Q exm2268300 20 42291567 [A/G] exm1542753 20 42310449 [A/G] NM_002466 MYBL2 EXON Missense_R47K exm1542754 20 42310481 [C/G] NM_002466 MYBL2 EXON Missense_A58P exm1542758 20 42311438 [A/G] NM_002466 MYBL2 EXON Missense_R64H exm1542774 20 42320868 [A/G] NM_002466 MYBL2 EXON Missense_S191N exm1542782 20 42328424 [T/G] NM_002466 MYBL2 EXON Missense_V231F exm1966417 20 42328479 [T/C] NM_002466 MYBL2 EXON Missense_T249I exm1542788 20 42328554 [T/C] NM_002466 MYBL2 EXON Missense_P274L exm1966422 20 42328683 [T/C] NM_002466 MYBL2 EXON Missense_S317L exm1542799 20 42331200 [A/G] NM_002466 MYBL2 EXON Missense_N341S exm1542800 20 42331208 [G/C] NM_002466 MYBL2 EXON Missense_L344V exm1542803 20 42331278 [G/C] NM_002466 MYBL2 EXON Missense_S367T exm2234473 20 42331308 [A/C] NM_002466 MYBL2 EXON Missense_T377N exm1542809 20 42331373 [A/G] NM_002466 MYBL2 EXON Missense_G399R exm1542815 20 42331457 [A/G] NM_002466 MYBL2 EXON Missense_S427G exm1542831 20 42341646 [A/G] NM_002466 MYBL2 EXON Missense_R575Q exm1542835 20 42341705 [A/G] NM_002466 MYBL2 EXON Missense_V595M exm1542837 20 42343775 [T/C] NM_002466 MYBL2 EXON Missense_P609L exm1542838 20 42343804 [T/C] NM_002466 MYBL2 EXON Missense_L619F exm1542841 20 42343821 [G/C] NM_002466 MYBL2 EXON Missense_I624M exm1542843 20 42343870 [A/G] NM_002466 MYBL2 EXON Missense_E641K exm1542848 20 42344683 [T/C] NM_002466 MYBL2 EXON Missense_R687C exm1542851 20 42344717 [T/G] NM_002466 MYBL2 EXON Missense_I698S exm1542858 20 42355002 [G/C] NM_176791,NM_001008901 GTSF1L,GTSF1L EXON Missense_C111W,Silent exm1542859 20 42355010 [T/C] NM_176791,NM_001008901 GTSF1L,GTSF1L EXON Missense_A109T,Silent exm1542861 20 42355016 [T/C] NM_176791,NM_001008901 GTSF1L,GTSF1L EXON Missense_D107N,Silent exm1542864 20 42355070 [T/C] NM_176791,NM_001008901 GTSF1L,GTSF1L EXON Missense_D89N,Missense_D89N exm1542868 20 42355169 [G/C] NM_176791,NM_001008901 GTSF1L,GTSF1L EXON Missense_L56V,Missense_L56V exm1966449 20 42355187 [T/C] NM_176791,NM_001008901 GTSF1L,GTSF1L EXON Missense_V50M,Missense_V50M exm1542872 20 42355213 [A/G] NM_176791,NM_001008901 GTSF1L,GTSF1L EXON Missense_A41V,Missense_A41V exm1542875 20 42355316 [T/C] NM_176791,NM_001008901 GTSF1L,GTSF1L EXON Missense_E7K,Missense_E7K exm1542876 20 42355331 [T/C] NM_176791,NM_001008901 GTSF1L,GTSF1L EXON Missense_E2K,Missense_E2K exm2272933 20 42555737 [T/G] NM_001098797,NM_001098796,NM_032883 TOX2,TOX2,TOX2 Silent,Silent,Silent exm-rs6031252 20 42573822 [A/C] NM_001098797,NM_001098796,NM_032883 TOX2,TOX2,TOX2 Silent,Silent,Silent exm1542883 20 42574679 [G/C] NM_001098797,NM_001098796,NM_032883,NM_001098798 TOX2,TOX2,TOX2,TOX2 Silent,Silent,Silent,Silent exm1542884 20 42602008 [T/C] NM_001098797,NM_001098796,NM_032883,NM_001098798 TOX2,TOX2,TOX2,TOX2 EXON Missense_F34S,Silent,Silent,Missense_F43S exm1542888 20 42602028 [A/G] NM_001098797,NM_001098796,NM_032883,NM_001098798 TOX2,TOX2,TOX2,TOX2 EXON Missense_V41M,Silent,Silent,Missense_V50M exm1542899 20 42635313 [A/G] NM_001098797,NM_001098796,NM_032883,NM_001098798 TOX2,TOX2,TOX2,TOX2 EXON Missense_G98S,Missense_G56S,Missense_G56S,Missense_G107S exm1542904 20 42635350 [A/G] NM_001098797,NM_001098796,NM_032883,NM_001098798 TOX2,TOX2,TOX2,TOX2 EXON Missense_Y110C,Missense_Y68C,Missense_Y68C,Missense_Y119C exm1542905 20 42635391 [A/C] NM_001098797,NM_001098796,NM_032883,NM_001098798 TOX2,TOX2,TOX2,TOX2 EXON Missense_L124I,Missense_L82I,Missense_L82I,Missense_L133I exm1542910 20 42679955 [A/G] NM_001098797,NM_001098796,NM_032883,NM_001098798 TOX2,TOX2,TOX2,TOX2 EXON Missense_M141V,Missense_M99V,Missense_M99V,Missense_M150V exm1542921 20 42680088 [C/G] NM_001098797,NM_001098796,NM_032883,NM_001098798 TOX2,TOX2,TOX2,TOX2 EXON Missense_S185T,Missense_S143T,Missense_S143T,Missense_S194T exm1542927 20 42680175 [T/C] NM_001098797,NM_001098796,NM_032883,NM_001098798 TOX2,TOX2,TOX2,TOX2 EXON Missense_V214A,Missense_V172A,Missense_V172A,Missense_V223A exm1542930 20 42682957 [T/C] NM_001098797,NM_001098796,NM_032883,NM_001098798 TOX2,TOX2,TOX2,TOX2 EXON Missense_P224S,Missense_P182S,Missense_P182S,Missense_P233S exm1542931 20 42682966 [A/G] NM_001098797,NM_001098796,NM_032883,NM_001098798 TOX2,TOX2,TOX2,TOX2 EXON Missense_D227N,Missense_D185N,Missense_D185N,Missense_D236N exm1966471 20 42694401 [T/C] NM_001098797,NM_001098796,NM_032883,NM_001098798 TOX2,TOX2,TOX2,TOX2 EXON Missense_A337V,Missense_A295V,Missense_A295V,Missense_A319V exm1542948 20 42694446 [T/C] NM_001098797,NM_001098796,NM_032883,NM_001098798 TOX2,TOX2,TOX2,TOX2 EXON Missense_L352P,Missense_L310P,Missense_L310P,Missense_L334P exm1542955 20 42694484 [T/C] NM_001098797,NM_001098796,NM_032883,NM_001098798 TOX2,TOX2,TOX2,TOX2 EXON Missense_R365C,Missense_R323C,Missense_R323C,Missense_R347C exm2254282 20 42696580 [A/C] NM_001098797,NM_001098796,NM_032883,NM_001098798 TOX2,TOX2,TOX2,TOX2 Silent,Silent,Silent,Silent exm1542996 20 42744421 [T/C] NM_020433 JPH2 EXON Missense_E632K exm1543022 20 42747151 [A/G] NM_020433 JPH2 EXON Nonsense_Q428X exm1543027 20 42747229 [T/C] NM_020433 JPH2 EXON Missense_E402K exm1543030 20 42747247 [T/C] NM_020433 JPH2 EXON Missense_A396T exm2234477 20 42788365 [G/C] NM_020433 JPH2 EXON Missense_M354I exm1543042 20 42788496 [T/C] NM_020433 JPH2 EXON Missense_G311S exm1543067 20 42815218 [T/C] NM_020433,NM_175913 JPH2,JPH2 EXON Missense_N43S,Missense_N43S exm1543071 20 42815269 [T/C] NM_020433,NM_175913 JPH2,JPH2 EXON Missense_H26R,Missense_H26R exm1543085 20 42826132 [T/C] NM_016470 C20orf111 EXON Missense_V147I exm1543086 20 42826134 [A/C] NM_016470 C20orf111 EXON Missense_V146G exm1543095 20 42826350 [A/C] NM_016470 C20orf111 EXON Missense_V74G exm1543096 20 42826379 [T/C] NM_016470 C20orf111 EXON Synonymous_G64G exm1543100 20 42831622 [A/G] NM_016470 C20orf111 EXON Missense_A57V exm-rs6017291 20 42854134 [A/G] NR_038339,NR_038338,NR_038337 LOC100505783,LOC100505783,LOC100505783 EXON Silent,Silent,Silent exm1543108 20 42885803 [T/G] NM_001256738,NM_024034,NM_001256737,NR_046353,NM_001256740,NM_001256739 GDAP1L1,GDAP1L1,GDAP1L1,GDAP1L1,GDAP1L1,GDAP1L1 EXON Silent,Missense_V64G,Missense_V64G,Silent,Missense_V64G,Missense_V64G exm1543112 20 42885823 [A/G] NM_001256738,NM_024034,NM_001256737,NR_046353,NM_001256740,NM_001256739 GDAP1L1,GDAP1L1,GDAP1L1,GDAP1L1,GDAP1L1,GDAP1L1 EXON Silent,Missense_V71M,Missense_V71M,Silent,Missense_V71M,Missense_V71M exm1543117 20 42885925 [A/G] NM_001256738,NM_024034,NM_001256737,NR_046353,NM_001256740,NM_001256739 GDAP1L1,GDAP1L1,GDAP1L1,GDAP1L1,GDAP1L1,GDAP1L1 EXON Missense_D16N,Missense_D105N,Missense_D105N,Silent,Missense_D105N,Missense_D105N exm1543134 20 42891917 [A/G] NM_001256738,NM_024034,NM_001256737,NR_046353,NM_001256740,NM_001256739 GDAP1L1,GDAP1L1,GDAP1L1,GDAP1L1,GDAP1L1,GDAP1L1 EXON Missense_E110K,Missense_E199K,Missense_E218K,Silent,Silent,Missense_E141K exm1543153 20 42907771 [A/G] NM_001256738,NM_024034,NM_001256737,NR_046353,NM_001256740,NM_001256739 GDAP1L1,GDAP1L1,GDAP1L1,GDAP1L1,GDAP1L1,GDAP1L1 EXON Missense_R223Q,Missense_R312Q,Missense_R331Q,Silent,Missense_R241Q,Missense_R254Q exm1543157 20 42907863 [A/G] NM_001256738,NM_024034,NM_001256737,NR_046353,NM_001256740,NM_001256739 GDAP1L1,GDAP1L1,GDAP1L1,GDAP1L1,GDAP1L1,GDAP1L1 EXON Missense_G254R,Missense_G343R,Missense_G362R,Silent,Missense_G272R,Missense_G285R exm1543170 20 42935356 [A/G] NM_001080472 FITM2 EXON Missense_T233I exm1543179 20 42935666 [A/C] NM_001080472 FITM2 EXON Missense_V130F exm1543181 20 42935701 [A/G] NM_001080472 FITM2 EXON Missense_T118M exm2254283 20 42935763 [T/C] NM_001080472 FITM2 EXON Synonymous_L97L exm1543185 20 42935780 [A/G] NM_001080472 FITM2 EXON Missense_R92W exm1543189 20 42939673 [T/C] NM_001080472 FITM2 EXON Missense_K39R exm1543190 20 42939693 [T/C] NM_001080472 FITM2 EXON Missense_M32I exm1543195 20 42939767 [C/G] NM_001080472 FITM2 EXON Missense_E8Q exm1543199 20 42965811 [T/C] NM_178491 R3HDML EXON Missense_P5L exm1543200 20 42965841 [T/G] NM_178491 R3HDML EXON Missense_F15C exm1966541 20 42965892 [T/C] NM_178491 R3HDML EXON Missense_A32V exm1543206 20 42965954 [T/C] NM_178491 R3HDML EXON Missense_R53C exm1543211 20 42965999 [A/G] NM_178491 R3HDML EXON Missense_D68N exm1543227 20 42972130 [T/C] NM_178491 R3HDML EXON Missense_T165I exm1543233 20 42973972 [A/G] NM_178491 R3HDML EXON Missense_N195D exm-rs4812831 20 43018260 [A/G] NM_001030003,NM_175914,NM_001030004 HNF4A,HNF4A,HNF4A Silent,Silent,Silent exm1543276 20 43042364 [T/C] NM_001030003,NM_175914,NM_001030004,NM_001258355,NM_000457,NM_178850,NM_178849 HNF4A,HNF4A,HNF4A,HNF4A,HNF4A,HNF4A,HNF4A EXON Missense_T117I,Missense_T117I,Missense_T117I,Missense_T132I,Missense_T139I,Missense_T139I,Missense_T139I exm1543284 20 43043159 [A/G] NM_001030003,NM_175914,NM_001030004,NM_001258355,NM_000457,NM_178850,NM_178849 HNF4A,HNF4A,HNF4A,HNF4A,HNF4A,HNF4A,HNF4A EXON Missense_V147I,Missense_V147I,Missense_V147I,Missense_V162I,Missense_V169I,Missense_V169I,Missense_V169I exm1543289 20 43043184 [A/G] NM_001030003,NM_175914,NM_001030004,NM_001258355,NM_000457,NM_178850,NM_178849 HNF4A,HNF4A,HNF4A,HNF4A,HNF4A,HNF4A,HNF4A EXON Missense_R155Q,Missense_R155Q,Missense_R155Q,Missense_R170Q,Missense_R177Q,Missense_R177Q,Missense_R177Q exm1543294 20 43043289 [T/C] NM_001030003,NM_175914,NM_001030004,NM_001258355,NM_000457,NM_178850,NM_178849 HNF4A,HNF4A,HNF4A,HNF4A,HNF4A,HNF4A,HNF4A EXON Missense_P190L,Missense_P190L,Missense_P190L,Missense_P205L,Missense_P212L,Missense_P212L,Missense_P212L exm1543298 20 43047151 [A/G] NM_001030003,NM_175914,NM_001030004,NM_001258355,NM_000457,NM_178850,NM_178849 HNF4A,HNF4A,HNF4A,HNF4A,HNF4A,HNF4A,HNF4A EXON Synonymous_L223L,Synonymous_L223L,Synonymous_L223L,Synonymous_L238L,Synonymous_L245L,Synonymous_L245L,Synonymous_L245L exm1543305 20 43048414 [A/G] NM_001030003,NM_175914,NM_001030004,NM_001258355,NM_000457,NM_178850,NM_178849 HNF4A,HNF4A,HNF4A,HNF4A,HNF4A,HNF4A,HNF4A EXON Missense_V242M,Missense_V242M,Missense_V242M,Missense_V257M,Missense_V264M,Missense_V264M,Missense_V264M exm1543325 20 43056980 [G/C] NM_001030003,NM_175914,NM_001258355,NM_000457,NM_178849 HNF4A,HNF4A,HNF4A,HNF4A,HNF4A EXON Missense_P357A,Missense_P357A,Missense_P372A,Missense_P379A,Missense_P379A exm1543335 20 43058267 [A/G] NM_001030003,NM_175914,NM_001258355,NM_000457,NM_178849 HNF4A,HNF4A,HNF4A,HNF4A,HNF4A EXON Missense_I431V,Missense_I441V,Missense_I456V,Missense_I463V,Missense_I453V exm-rs6017342 20 43065028 [A/C] exm1543350 20 43108836 [T/G] NM_001039199,NM_024331,NM_001261839 TTPAL,TTPAL,TTPAL EXON Missense_R66L,Missense_R66L,Missense_R66L exm2234485 20 43108940 [A/G] NM_001039199,NM_024331,NM_001261839 TTPAL,TTPAL,TTPAL EXON Missense_N101D,Missense_N101D,Missense_N101D exm1543358 20 43113099 [A/G] NM_001039199,NM_024331,NM_001261839 TTPAL,TTPAL,TTPAL EXON Missense_K190E,Missense_K190E,Silent exm1543366 20 43117986 [G/C] NM_001039199,NM_024331,NM_001261839 TTPAL,TTPAL,TTPAL EXON Missense_A278G,Missense_A278G,Missense_A244G exm1543367 20 43117999 [A/C] NM_001039199,NM_024331,NM_001261839 TTPAL,TTPAL,TTPAL EXON Missense_D282E,Missense_D282E,Missense_D248E exm1543368 20 43118015 [A/G] NM_001039199,NM_024331,NM_001261839 TTPAL,TTPAL,TTPAL EXON Missense_A288T,Missense_A288T,Missense_A254T exm1543386 20 43128987 [T/C] NM_198941,NM_006811 SERINC3,SERINC3 EXON Missense_V458I,Missense_V458I exm1543393 20 43129822 [T/C] NM_198941,NM_006811 SERINC3,SERINC3 EXON Missense_R392Q,Missense_R392Q exm1543410 20 43133498 [G/C] NM_198941,NM_006811 SERINC3,SERINC3 EXON Missense_S273C,Missense_S273C exm1543416 20 43135506 [T/C] NM_198941,NM_006811 SERINC3,SERINC3 EXON Missense_V249I,Missense_V249I exm1543417 20 43135538 [T/G] NM_198941,NM_006811 SERINC3,SERINC3 EXON Missense_K238T,Missense_K238T exm1543418 20 43135556 [T/C] NM_198941,NM_006811 SERINC3,SERINC3 EXON Missense_D232G,Missense_D232G exm1543427 20 43139956 [T/C] NM_198941,NM_006811 SERINC3,SERINC3 EXON Missense_Y150C,Missense_Y150C exm1543431 20 43141490 [A/G] NM_198941,NM_006811 SERINC3,SERINC3 EXON Missense_M116T,Missense_M116T exm1543464 20 43249032 [A/G] NM_000022 ADA EXON Missense_A329V exm2275151 20 43251493 [A/G] NM_000022 ADA EXON Missense_R253W exm1543483 20 43251683 [T/C] NM_000022 ADA EXON Missense_A215T exm1543488 20 43252858 [T/A] NM_000022 ADA EXON Missense_H197Q exm2254287 20 43252915 [T/C] NM_000022 ADA EXON Synonymous_V178V exm1543499 20 43254263 [T/C] NM_000022 ADA EXON Missense_R142Q exm1543514 20 43255220 [T/C] NM_000022 ADA EXON Missense_K80R exm1543515 20 43255233 [A/G] NM_000022 ADA EXON Missense_R76W exm1543520 20 43257796 [A/G] NM_000022 ADA EXON Missense_A37V exm2268342 20 43290722 [A/G] NR_034104 LOC79015 Silent exm1543558 20 43344039 [A/G] NM_003881 WISP2 EXON Missense_G3D exm1543565 20 43348590 [A/G] NM_003881 WISP2 EXON Missense_R38Q exm1543570 20 43348653 [A/G] NM_003881 WISP2 EXON Missense_R59Q exm1543581 20 43353380 [A/G] NM_003881 WISP2 EXON Synonymous_L93L exm1543584 20 43353424 [A/G] NM_003881 WISP2 EXON Missense_R108Q exm1543592 20 43353601 [A/G] NM_003881 WISP2 EXON Missense_G167E exm1543597 20 43355772 [A/C] NM_003881 WISP2 EXON Missense_P193T exm1543616 20 43374694 [T/C] NM_022358 KCNK15 EXON Missense_L48P exm1543622 20 43378770 [A/G] NM_022358 KCNK15 EXON Missense_E95G exm1543637 20 43378919 [T/C] NM_022358 KCNK15 EXON Missense_C145R exm1543650 20 43379166 [A/G] NM_022358 KCNK15 EXON Missense_Y227C exm1543662 20 43379375 [G/C] NM_022358 KCNK15 EXON Missense_E297Q exm2254288 20 43379404 [T/C] NM_022358 KCNK15 EXON Synonymous_F306F exm1543678 20 43384935 [G/C] NM_001205317,NM_182970 RIMS4,RIMS4 EXON Missense_R218P,Missense_R217P exm2234492 20 43399928 [T/C] NM_001205317,NM_182970 RIMS4,RIMS4 EXON Missense_G76D,Missense_G75D exm2268301 20 43430490 [A/G] NM_001205317,NM_182970 RIMS4,RIMS4 Silent,Silent exm1543708 20 43530403 [A/C] NM_139323,NM_003404 YWHAB,YWHAB EXON Missense_K77Q,Missense_K77Q exm1543713 20 43532662 [A/G] NM_139323,NM_003404 YWHAB,YWHAB EXON Missense_N110S,Missense_N110S exm1543722 20 43533771 [T/C] NM_139323,NM_003404 YWHAB,YWHAB EXON Missense_T196M,Missense_T196M exm1543740 20 43541307 [A/G] NM_001124756 PABPC1L EXON Missense_R67Q exm1543753 20 43545505 [T/C] NM_001124756 PABPC1L EXON Missense_R166C exm1543760 20 43547582 [A/C] NM_001124756 PABPC1L EXON Missense_E180A exm1543761 20 43547597 [T/C] NM_001124756 PABPC1L EXON Missense_A185V exm1543768 20 43547677 [T/G] NM_001124756 PABPC1L EXON Missense_S212A exm1543782 20 43552847 [A/G] NM_001124756 PABPC1L EXON Missense_D308N exm2254289 20 43559199 [T/C] NM_001124756 PABPC1L EXON Synonymous_I357I exm1543797 20 43559296 [C/G] NM_001124756 PABPC1L EXON Missense_R390G exm1543801 20 43559363 [T/C] NM_001124756 PABPC1L EXON Missense_P412L exm1543819 20 43561803 [T/C] NM_001124756 PABPC1L EXON Missense_T474M exm1543827 20 43565288 [T/C] NM_001124756 PABPC1L EXON Missense_P521L exm1543828 20 43565297 [A/G] NM_001124756 PABPC1L EXON Missense_H524R exm1543841 20 43566786 [T/C] NM_001124756 PABPC1L EXON Missense_S577L exm-rs11780 20 43566787 [A/G] NM_001124756 PABPC1L EXON Synonymous_S577S exm1543847 20 43567320 [A/C] NM_001124756 PABPC1L EXON Missense_D594E exm1543866 20 43580555 [T/C] NM_006809 TOMM34 EXON Missense_R157G exm1543869 20 43583725 [T/C] NM_006809 TOMM34 EXON Missense_V122I exm1543878 20 43585086 [G/C] NM_006809 TOMM34 EXON Missense_N56K exm1543893 20 43600730 [A/G] NM_006282 STK4 EXON Missense_K16R exm1543906 20 43610574 [A/G] NM_006282 STK4 EXON Missense_R117Q exm1543922 20 43625927 [A/C] NM_006282 STK4 EXON Missense_T271P exm1543930 20 43629135 [A/G] NM_006282 STK4 EXON Missense_V312M exm1543934 20 43629842 [A/G] NM_006282 STK4 EXON Missense_R332Q exm1543935 20 43629904 [A/G] NM_006282 STK4 EXON Missense_T353A exm1543938 20 43629911 [T/C] NM_006282 STK4 EXON Missense_I355T exm1543943 20 43653713 [T/C] NM_006282 STK4 EXON Missense_P416L exm1543955 20 43723569 [T/C] NM_002251 KCNS1 EXON Missense_Q508R exm1543956 20 43723573 [T/C] NM_002251 KCNS1 EXON Missense_G507R exm1543962 20 43723614 [A/G] NM_002251 KCNS1 EXON Missense_S493L exm1543963 20 43723627 [T/C] NM_002251 KCNS1 EXON Missense_I489V exm1543967 20 43723669 [A/G] NM_002251 KCNS1 EXON Missense_R475C exm1543971 20 43723696 [A/G] NM_002251 KCNS1 EXON Missense_R466C exm1543999 20 43726836 [T/G] NM_002251 KCNS1 EXON Missense_R193S exm1544023 20 43739100 [A/G] NM_145652 WFDC5 EXON Missense_S103L exm1544024 20 43739119 [A/G] NM_145652 WFDC5 EXON Missense_H97Y exm1544058 20 43752871 [T/C] NM_080869 WFDC12 EXON Missense_V39I exm1544060 20 43752891 [T/C] NM_080869 WFDC12 EXON Missense_G32E exm1544063 20 43753030 [A/G] NM_080869 WFDC12 EXON Missense_A20V exm1544067 20 43803606 [A/G] NM_002638 PI3 EXON Missense_A15T exm1544068 20 43803613 [T/C] NM_002638 PI3 EXON Missense_T17M exm1544069 20 43803618 [A/G] NM_002638 PI3 EXON Missense_V19I exm1544076 20 43804522 [A/C] NM_002638 PI3 EXON Missense_T34P exm1544078 20 43804530 [A/T] NM_002638 PI3 EXON Missense_K36N exm1544085 20 43804667 [A/G] NM_002638 PI3 EXON Missense_R82Q exm1544093 20 43804765 [A/G] NM_002638 PI3 EXON Missense_V115I exm1544104 20 43836015 [A/G] NM_003007 SEMG1 EXON Missense_G26D exm1544105 20 43836016 [T/C] NM_003007 SEMG1 EXON Synonymous_G26G exm1544110 20 43836062 [A/G] NM_003007 SEMG1 EXON Missense_G42R exm1544114 20 43836173 [A/T] NM_003007 SEMG1 EXON Missense_S79T exm1544115 20 43836216 [T/C] NM_003007 SEMG1 EXON Missense_T93M exm1544117 20 43836237 [T/A] NM_003007 SEMG1 EXON Missense_L100Q exm1544118 20 43836240 [A/G] NM_003007 SEMG1 EXON Missense_G101D exm1544120 20 43836261 [A/G] NM_003007 SEMG1 EXON Missense_H108R exm1544123 20 43836296 [A/G] NM_003007 SEMG1 EXON Missense_K120E exm1544133 20 43836503 [A/G] NM_003007 SEMG1 EXON Missense_G189R exm1544143 20 43836779 [T/C] NM_003007 SEMG1 EXON Nonsense_R281X exm1544146 20 43836872 [A/C] NM_003007 SEMG1 EXON Missense_S312R exm1544149 20 43836918 [A/G] NM_003007 SEMG1 EXON Missense_Q327R exm1544153 20 43836978 [T/C] NM_003007 SEMG1 EXON Missense_S347L exm1544154 20 43836996 [T/C] NM_003007 SEMG1 EXON Missense_T353M exm1544158 20 43837015 [A/C] NM_003007 SEMG1 EXON Missense_H359Q exm1544162 20 43837137 [A/G] NM_003007 SEMG1 EXON Missense_G400D exm1544170 20 43837238 [T/C] NM_003007 SEMG1 EXON Synonymous_L434L exm2254291 20 43837238 [T/C] NM_003007 SEMG1 EXON Synonymous_L434L exm1544173 20 43837278 [A/G] NM_003007 SEMG1 EXON Missense_R447H exm1544175 20 43837308 [A/G] NM_003007 SEMG1 EXON Missense_R457Q exm1544183 20 43850059 [A/C] NM_003008 SEMG2 EXON Missense_S10Y exm1544192 20 43850400 [A/C] NM_003008 SEMG2 EXON Missense_Q43K exm1544195 20 43850442 [A/G] NM_003008 SEMG2 EXON Missense_T57A exm1544205 20 43850703 [G/C] NM_003008 SEMG2 EXON Missense_Q144E exm1544210 20 43850800 [T/C] NM_003008 SEMG2 EXON Missense_A176V exm1544211 20 43850832 [T/C] NM_003008 SEMG2 EXON Nonsense_Q187X exm1544223 20 43851094 [A/G] NM_003008 SEMG2 EXON Missense_S274N exm1544225 20 43851108 [T/C] NM_003008 SEMG2 EXON Missense_H279Y exm1966895 20 43851115 [A/G] NM_003008 SEMG2 EXON Missense_R281Q exm1544226 20 43851147 [T/C] NM_003008 SEMG2 EXON Missense_R292C exm1544227 20 43851148 [A/G] NM_003008 SEMG2 EXON Missense_R292H exm1544231 20 43851201 [T/C] NM_003008 SEMG2 EXON Missense_S310P exm1544240 20 43851375 [C/G] NM_003008 SEMG2 EXON Missense_G368R exm1544249 20 43851470 [A/T] NM_003008 SEMG2 EXON Nonsense_Y399X exm1544252 20 43851523 [A/G] NM_003008 SEMG2 EXON Missense_R417H exm1544265 20 43851696 [T/G] NM_003008 SEMG2 EXON Nonsense_E475X exm1544270 20 43851792 [T/C] NM_003008 SEMG2 EXON Nonsense_Q507X exm1544272 20 43851795 [A/T] NM_003008 SEMG2 EXON Missense_I508F exm1544274 20 43851861 [T/C] NM_003008 SEMG2 EXON Missense_S530P exm1544276 20 43851894 [A/G] NM_003008 SEMG2 EXON Missense_E541K exm1544279 20 43851927 [G/C] NM_003008 SEMG2 EXON Missense_E552Q exm1544280 20 43851970 [T/A] NM_003008 SEMG2 EXON Missense_D566V exm1544292 20 43881680 [T/C] NM_003064 SLPI EXON Missense_M119I exm1544293 20 43881682 [T/C] NM_003064 SLPI EXON Missense_M119V exm1966916 20 43882218 [A/G] NM_003064 SLPI EXON Missense_P81L exm1544302 20 43882331 [T/G] NM_003064 SLPI EXON Nonsense_C43X exm1544320 20 43922428 [T/G] NM_003833,NM_030590,NM_030592 MATN4,MATN4,MATN4 EXON Missense_N575K,Missense_N534K,Missense_N493K exm1544324 20 43922546 [A/G] NM_003833,NM_030590,NM_030592 MATN4,MATN4,MATN4 Silent,Silent,Silent exm1544325 20 43922554 [T/G] NM_003833,NM_030590,NM_030592 MATN4,MATN4,MATN4 EXON Missense_L561M,Missense_L520M,Missense_L479M exm1544326 20 43922584 [A/G] NM_003833,NM_030590,NM_030592 MATN4,MATN4,MATN4 EXON Missense_R551C,Missense_R510C,Missense_R469C exm1544327 20 43922637 [T/C] NM_003833,NM_030590,NM_030592 MATN4,MATN4,MATN4 EXON Missense_G533E,Missense_G492E,Missense_G451E exm1544329 20 43926566 [T/A] NM_003833,NM_030590,NM_030592 MATN4,MATN4,MATN4 EXON Missense_I524N,Missense_I483N,Missense_I442N exm1544330 20 43926573 [T/C] NM_003833,NM_030590,NM_030592 MATN4,MATN4,MATN4 EXON Missense_G522S,Missense_G481S,Missense_G440S exm1544331 20 43926614 [A/G] NM_003833,NM_030590,NM_030592 MATN4,MATN4,MATN4 EXON Missense_P508L,Missense_P467L,Missense_P426L exm1544332 20 43926660 [A/G] NM_003833,NM_030590,NM_030592 MATN4,MATN4,MATN4 EXON Missense_R493C,Missense_R452C,Missense_R411C exm1544344 20 43926978 [A/G] NM_003833,NM_030590,NM_030592 MATN4,MATN4,MATN4 EXON Missense_R420C,Missense_R379C,Missense_R338C exm1544352 20 43929566 [T/C] NM_003833,NM_030590,NM_030592 MATN4,MATN4,MATN4 EXON Missense_E325K,Missense_E284K,Missense_E243K exm1544359 20 43929647 [A/G] NM_003833,NM_030590,NM_030592 MATN4,MATN4,MATN4 EXON Missense_R298W,Missense_R257W,Missense_R216W exm1544362 20 43929764 [A/C] NM_003833,NM_030590,NM_030592 MATN4,MATN4,MATN4 EXON Missense_Q289H,Missense_Q248H,Silent exm1544365 20 43929790 [A/G] NM_003833,NM_030590,NM_030592 MATN4,MATN4,MATN4 EXON Missense_H281Y,Missense_H240Y,Silent exm1544366 20 43929795 [T/C] NM_003833,NM_030590,NM_030592 MATN4,MATN4,MATN4 EXON Missense_R279Q,Missense_R238Q,Silent exm1544367 20 43929982 [C/G] NM_003833,NM_030590,NM_030592 MATN4,MATN4,MATN4 EXON Missense_Q249E,Silent,Silent exm1544372 20 43930036 [A/C] NM_003833,NM_030590,NM_030592 MATN4,MATN4,MATN4 EXON Missense_V231F,Silent,Silent exm1544384 20 43933021 [T/G] NM_003833,NM_030590,NM_030592 MATN4,MATN4,MATN4 EXON Missense_R164S,Missense_R164S,Missense_R164S exm2275152 20 43933144 [T/C] NM_003833,NM_030590,NM_030592 MATN4,MATN4,MATN4 EXON Missense_V123M,Missense_V123M,Missense_V123M exm2234500 20 43933156 [A/G] NM_003833,NM_030590,NM_030592 MATN4,MATN4,MATN4 EXON Missense_Y119H,Missense_Y119H,Missense_Y119H exm1544394 20 43933188 [A/G] NM_003833,NM_030590,NM_030592 MATN4,MATN4,MATN4 EXON Missense_A108V,Missense_A108V,Missense_A108V exm1544400 20 43933348 [A/G] NM_003833,NM_030590,NM_030592 MATN4,MATN4,MATN4 EXON Nonsense_Q55X,Nonsense_Q55X,Nonsense_Q55X exm1544404 20 43933399 [C/G] NM_003833,NM_030590,NM_030592 MATN4,MATN4,MATN4 EXON Missense_V38L,Missense_V38L,Missense_V38L exm1544405 20 43933416 [A/G] NM_003833,NM_030590,NM_030592 MATN4,MATN4,MATN4 EXON Missense_P32L,Missense_P32L,Missense_P32L exm1544407 20 43933437 [T/C] NM_003833,NM_030590,NM_030592 MATN4,MATN4,MATN4 EXON Missense_G25D,Missense_G25D,Missense_G25D exm1544423 20 43936836 [C/G] NM_003833,NM_030590,NM_030592,NM_014276 MATN4,MATN4,MATN4,RBPJL EXON Silent,Silent,Silent,Missense_E26Q exm1544425 20 43936854 [A/G] NM_003833,NM_030590,NM_030592,NM_014276 MATN4,MATN4,MATN4,RBPJL EXON Silent,Silent,Silent,Missense_E32K exm1544431 20 43938248 [A/G] NM_014276 RBPJL EXON Missense_R58H exm1544438 20 43938333 [T/G] NM_014276 RBPJL Silent exm1544446 20 43940524 [T/G] NM_014276 RBPJL EXON Missense_G125V exm1544448 20 43940538 [A/T] NM_014276 RBPJL EXON Missense_S130T exm1544459 20 43940952 [G/C] NM_014276 RBPJL EXON Missense_R179P exm1544463 20 43941003 [A/C] NM_014276 RBPJL EXON Nonsense_S196X exm1544471 20 43942218 [G/C] NM_014276 RBPJL EXON Missense_Q244E exm1544474 20 43942676 [T/C] NM_014276 RBPJL EXON Synonymous_A253A exm1544475 20 43942711 [A/G] NM_014276 RBPJL EXON Missense_R265Q exm1544477 20 43942756 [T/C] NM_014276 RBPJL EXON Missense_T280M exm1544501 20 43945377 [A/C] NM_014276 RBPJL EXON Missense_S444R exm1544504 20 43945423 [G/C] NM_014276 RBPJL EXON Missense_V460L exm1544508 20 43945481 [A/G] NM_014276 RBPJL EXON Missense_Y479C exm1544509 20 43945487 [T/C] NM_014276 RBPJL EXON Missense_V481A exm1544510 20 43945495 [A/G] NM_014276 RBPJL EXON Missense_G484S exm1544516 20 43945547 [T/G] NM_014276 RBPJL EXON Missense_S501I exm1544530 20 43956017 [T/C] NM_002999 SDC4 EXON Missense_V162I exm1544532 20 43959096 [T/C] NM_002999 SDC4 EXON Missense_V119I exm1544536 20 43959147 [T/C] NM_002999 SDC4 EXON Missense_E102K exm1544542 20 43964431 [T/C] NM_002999 SDC4 EXON Missense_G64R exm2272899 20 43970377 [T/C] NM_002999 SDC4 Silent exm1544552 20 43976991 [A/G] NM_002999 SDC4 EXON Missense_F12L exm-rs1008953 20 43980726 [T/C] exm1544555 20 43992179 [G/C] NM_001197129,NM_033542,NM_001099791,NR_003189 SYS1,SYS1,SYS1,SYS1-DBNDD2 EXON Missense_G3A,Missense_G3A,Missense_G3A,Silent exm1544565 20 43994275 [C/G] NM_001197129,NM_033542,NM_001099791,NR_003189 SYS1,SYS1,SYS1,SYS1-DBNDD2 EXON Missense_T60S,Missense_T60S,Missense_T60S,Silent exm1544581 20 44002555 [A/G] NM_001099791,NR_003189,NM_014477 SYS1,SYS1-DBNDD2,TP53TG5 EXON Silent,Silent,Missense_Y289H exm1544583 20 44002650 [A/G] NM_001099791,NR_003189,NM_014477 SYS1,SYS1-DBNDD2,TP53TG5 EXON Silent,Silent,Missense_V257A exm1544585 20 44002653 [A/T] NM_001099791,NR_003189,NM_014477 SYS1,SYS1-DBNDD2,TP53TG5 Silent,Silent,Silent exm1544594 20 44003790 [T/G] NM_001099791,NR_003189,NM_014477 SYS1,SYS1-DBNDD2,TP53TG5 EXON Missense_V363L,Silent,Missense_H219Q exm1544597 20 44003845 [T/C] NM_001099791,NR_003189,NM_014477 SYS1,SYS1-DBNDD2,TP53TG5 EXON Missense_L381P,Silent,Missense_Q201R exm1544599 20 44003875 [T/C] NM_001099791,NR_003189,NM_014477 SYS1,SYS1-DBNDD2,TP53TG5 EXON Missense_A391V,Silent,Missense_R191H exm1544600 20 44003876 [A/G] NM_001099791,NR_003189,NM_014477 SYS1,SYS1-DBNDD2,TP53TG5 EXON Synonymous_A391A,Silent,Missense_R191C exm1544602 20 44003932 [A/G] NM_001099791,NR_003189,NM_014477 SYS1,SYS1-DBNDD2,TP53TG5 EXON Missense_D410G,Silent,Missense_V172A exm1544607 20 44003956 [T/C] NM_001099791,NR_003189,NM_014477 SYS1,SYS1-DBNDD2,TP53TG5 EXON Missense_P418L,Silent,Missense_R164K exm1967013 20 44003998 [T/C] NM_001099791,NR_003189,NM_014477 SYS1,SYS1-DBNDD2,TP53TG5 EXON Missense_P432L,Silent,Missense_R150Q exm1544609 20 44004020 [T/C] NM_001099791,NR_003189,NM_014477 SYS1,SYS1-DBNDD2,TP53TG5 EXON Synonymous_R439R,Silent,Missense_T143A exm1544614 20 44004128 [T/C] NM_001099791,NR_003189,NM_014477 SYS1,SYS1-DBNDD2,TP53TG5 EXON Synonymous_L475L,Silent,Missense_E107K exm1544626 20 44005936 [T/C] NR_003189,NM_014477 SYS1-DBNDD2,TP53TG5 EXON Silent,Missense_R57H exm1544635 20 44006195 [T/C] NR_003189,NM_014477 SYS1-DBNDD2,TP53TG5 EXON Silent,Missense_R36Q exm1544642 20 44006859 [G/C] NR_003189,NM_014477 SYS1-DBNDD2,TP53TG5 EXON Silent,Missense_K6N exm1544648 20 44037138 [T/C] NR_003189,NM_001197139,NM_001048222,NM_001048221,NM_001197140,NM_018478,NM_001048224,NM_001048223,NM_001048226,NM_001048225 SYS1-DBNDD2,DBNDD2,DBNDD2,DBNDD2,DBNDD2,DBNDD2,DBNDD2,DBNDD2,DBNDD2,DBNDD2 EXON Silent,Missense_R11C,Missense_R11C,Missense_R11C,Missense_R11C,Missense_R109C,Missense_R11C,Missense_R11C,Missense_R113C,Missense_R113C exm1544664 20 44038574 [A/G] NR_003189,NM_001197139,NM_001048222,NM_001048221,NM_001197140,NM_018478,NM_001048224,NM_001048223,NM_001048226,NM_001048225 SYS1-DBNDD2,DBNDD2,DBNDD2,DBNDD2,DBNDD2,DBNDD2,DBNDD2,DBNDD2,DBNDD2,DBNDD2 EXON Silent,Missense_M94V,Silent,Missense_M94V,Missense_M94V,Missense_M192V,Silent,Missense_M94V,Silent,Missense_M196V exm1544673 20 44038710 [T/C] NR_003189,NM_001197139,NM_001048222,NM_001048221,NM_001197140,NM_018478,NM_001048224,NM_001048223,NM_001048226,NM_001048225 SYS1-DBNDD2,DBNDD2,DBNDD2,DBNDD2,DBNDD2,DBNDD2,DBNDD2,DBNDD2,DBNDD2,DBNDD2 EXON Silent,Missense_T139M,Silent,Missense_T139M,Missense_T139M,Missense_T237M,Silent,Missense_T139M,Silent,Missense_T241M exm1544691 20 44047493 [T/G] NM_015937,NM_001184729,NR_047694,NR_047695,NM_001184728,NM_001184730,NR_047691,NR_047693,NR_047692 PIGT,PIGT,PIGT,PIGT,PIGT,PIGT,PIGT,PIGT,PIGT EXON Missense_V123L,Missense_V123L,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm1544696 20 44047933 [A/G] NM_015937,NM_001184729,NR_047694,NR_047695,NM_001184728,NM_001184730,NR_047691,NR_047693,NR_047692 PIGT,PIGT,PIGT,PIGT,PIGT,PIGT,PIGT,PIGT,PIGT Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm1544699 20 44047974 [A/G] NM_015937,NM_001184729,NR_047694,NR_047695,NM_001184728,NM_001184730,NR_047691,NR_047693,NR_047692 PIGT,PIGT,PIGT,PIGT,PIGT,PIGT,PIGT,PIGT,PIGT EXON Missense_R178Q,Missense_R178Q,Silent,Silent,Missense_R122Q,Missense_R76Q,Silent,Silent,Silent exm1544705 20 44048175 [A/G] NM_015937,NM_001184729,NR_047694,NR_047695,NM_001184728,NM_001184730,NR_047691,NR_047693,NR_047692 PIGT,PIGT,PIGT,PIGT,PIGT,PIGT,PIGT,PIGT,PIGT EXON Missense_R209H,Missense_R209H,Silent,Silent,Missense_R153H,Missense_R107H,Silent,Silent,Silent exm1544710 20 44048783 [A/G] NM_015937,NM_001184729,NR_047694,NR_047695,NM_001184728,NM_001184730,NR_047691,NR_047693,NR_047692 PIGT,PIGT,PIGT,PIGT,PIGT,PIGT,PIGT,PIGT,PIGT EXON Missense_R230H,Missense_R230H,Silent,Silent,Missense_R174H,Missense_R128H,Silent,Silent,Silent exm1544717 20 44049008 [T/C] NM_015937,NM_001184729,NR_047694,NR_047695,NM_001184728,NM_001184730,NR_047691,NR_047693,NR_047692 PIGT,PIGT,PIGT,PIGT,PIGT,PIGT,PIGT,PIGT,PIGT EXON Missense_T269M,Missense_T269M,Silent,Silent,Missense_T213M,Missense_T167M,Silent,Silent,Silent exm1544736 20 44050050 [T/C] NM_015937,NM_001184729,NR_047694,NR_047695,NM_001184728,NM_001184730,NR_047691,NR_047693,NR_047692 PIGT,PIGT,PIGT,PIGT,PIGT,PIGT,PIGT,PIGT,PIGT EXON Missense_A354V,Silent,Silent,Silent,Missense_A298V,Missense_A252V,Silent,Silent,Silent exm1544737 20 44050056 [A/G] NM_015937,NM_001184729,NR_047694,NR_047695,NM_001184728,NM_001184730,NR_047691,NR_047693,NR_047692 PIGT,PIGT,PIGT,PIGT,PIGT,PIGT,PIGT,PIGT,PIGT EXON Missense_R356Q,Silent,Silent,Silent,Missense_R300Q,Missense_R254Q,Silent,Silent,Silent exm1544747 20 44052964 [A/G] NM_015937,NM_001184729,NR_047694,NR_047695,NM_001184728,NM_001184730,NR_047691,NR_047693,NR_047692 PIGT,PIGT,PIGT,PIGT,PIGT,PIGT,PIGT,PIGT,PIGT EXON Missense_R448Q,Missense_R381Q,Silent,Silent,Missense_R392Q,Missense_R346Q,Silent,Silent,Silent exm1544752 20 44053152 [A/G] NM_015937,NM_001184729,NR_047694,NR_047695,NM_001184728,NM_001184730,NR_047691,NR_047693,NR_047692 PIGT,PIGT,PIGT,PIGT,PIGT,PIGT,PIGT,PIGT,PIGT EXON Missense_A473T,Missense_A406T,Silent,Silent,Missense_A417T,Missense_A371T,Silent,Silent,Silent exm1967059 20 44054459 [A/C] NM_015937,NM_001184729,NR_047694,NR_047695,NM_001184728,NM_001184730,NR_047691,NR_047693,NR_047692 PIGT,PIGT,PIGT,PIGT,PIGT,PIGT,PIGT,PIGT,PIGT EXON Missense_P577Q,Missense_P510Q,Silent,Silent,Missense_P521Q,Missense_P475Q,Silent,Silent,Silent exm1544773 20 44099097 [A/G] NM_006103 WFDC2 EXON Missense_V50I exm1967074 20 44108638 [T/C] NM_006103 WFDC2 EXON Missense_R94W exm-rs11696501 20 44124523 [A/G] exm1544794 20 44141331 [A/G] NM_006652 SPINT3 EXON Missense_L77S exm1544796 20 44141400 [A/G] NM_006652 SPINT3 EXON Missense_F54S exm-IND20-43574838 20 44141425 [D/I] NM_006652 SPINT3 EXON exm1967078 20 44163126 [A/G] NM_080827 WFDC6 EXON Missense_H81Y exm1544811 20 44166646 [T/C] NM_080827,NM_001198986 WFDC6,EPPIN-WFDC6 EXON Missense_C60Y,Missense_C160Y exm1544813 20 44166668 [A/C] NM_080827,NM_001198986 WFDC6,EPPIN-WFDC6 EXON Missense_D53Y,Missense_D153Y exm1544814 20 44166691 [A/G] NM_080827,NM_001198986 WFDC6,EPPIN-WFDC6 EXON Missense_I45T,Missense_I145T exm1544828 20 44171347 [T/G] NM_001198986,NM_020398 EPPIN-WFDC6,EPPIN EXON Missense_K128T,Missense_K128T exm1544832 20 44171455 [T/C] NM_001198986,NM_020398 EPPIN-WFDC6,EPPIN EXON Missense_H92R,Missense_H92R exm1544842 20 44174305 [T/C] NM_001198986,NM_020398 EPPIN-WFDC6,EPPIN EXON Missense_G66R,Missense_G66R exm1544855 20 44180670 [A/G] NM_181510,NM_130896 WFDC8,WFDC8 EXON Missense_R241C,Missense_R241C exm1544858 20 44180751 [T/G] NM_181510,NM_130896 WFDC8,WFDC8 EXON Missense_P214T,Missense_P214T exm1967099 20 44181897 [T/G] NM_181510,NM_130896 WFDC8,WFDC8 EXON Missense_P155Q,Missense_P155Q exm1544866 20 44184370 [A/C] NM_181510,NM_130896 WFDC8,WFDC8 EXON Missense_D139Y,Missense_D139Y exm1544867 20 44184375 [T/C] NM_181510,NM_130896 WFDC8,WFDC8 EXON Missense_N137S,Missense_N137S exm1544871 20 44184407 [A/C] NM_181510,NM_130896 WFDC8,WFDC8 EXON Missense_R126S,Missense_R126S exm1544875 20 44184452 [A/C] NM_181510,NM_130896 WFDC8,WFDC8 EXON Missense_W111C,Missense_W111C exm1544880 20 44184498 [A/G] NM_181510,NM_130896 WFDC8,WFDC8 EXON Missense_M96T,Missense_M96T exm1544888 20 44187626 [A/G] NM_181510,NM_130896 WFDC8,WFDC8 EXON Missense_P48S,Missense_P48S exm1544890 20 44190751 [T/G] NM_181510,NM_130896 WFDC8,WFDC8 EXON Missense_K45T,Missense_K45T exm1544891 20 44190769 [A/G] NM_181510,NM_130896 WFDC8,WFDC8 EXON Missense_M39T,Missense_M39T exm1544897 20 44207874 [A/G] NM_181510,NM_130896 WFDC8,WFDC8 EXON Nonsense_R5X,Nonsense_R5X exm1544903 20 44237301 [T/C] NM_147198 WFDC9 Silent exm1544907 20 44237357 [A/G] NM_147198 WFDC9 EXON Missense_R62C exm1544910 20 44238741 [T/G] NM_147198 WFDC9 EXON Missense_N27T exm1544911 20 44238786 [A/G] NM_147198 WFDC9 EXON Missense_I12T exm1544912 20 44238792 [A/G] NM_147198 WFDC9 EXON Missense_M10T exm1544914 20 44258465 [A/G] NM_147198,NM_080753 WFDC9,WFDC10A EXON Silent,Missense_T5A exm2234508 20 44259622 [A/G] NM_147198,NM_080753 WFDC9,WFDC10A EXON Silent,Missense_T69A exm1544941 20 44277896 [A/G] NM_147197 WFDC11 EXON Synonymous_V81V exm1967125 20 44279200 [A/T] NM_147197 WFDC11 EXON Missense_T14S exm1544954 20 44313483 [T/C] NM_172006,NM_172131 WFDC10B,WFDC10B EXON Missense_M70V,Missense_M86V exm1544958 20 44313579 [A/G] NM_172006,NM_172131 WFDC10B,WFDC10B EXON Nonsense_R38X,Nonsense_R54X exm1544962 20 44314553 [T/C] NM_172006,NM_172131 WFDC10B,WFDC10B EXON Missense_M27V,Silent exm1544967 20 44314609 [A/G] NM_172006,NM_172131 WFDC10B,WFDC10B EXON Missense_L8P,Silent exm1544972 20 44330799 [T/G] NM_172006,NM_172131,NM_172005 WFDC10B,WFDC10B,WFDC13 EXON Silent,Silent,Missense_F13V exm1544977 20 44333211 [A/G] NM_172006,NM_172131,NM_172005 WFDC10B,WFDC10B,WFDC13 EXON Silent,Silent,Missense_E73K exm1544978 20 44333227 [A/G] NM_172006,NM_172131,NM_172005 WFDC10B,WFDC10B,WFDC13 EXON Silent,Silent,Missense_R78H exm1544982 20 44351095 [A/C] NM_178455 SPINT4 EXON Missense_A30E exm2275260 20 44352519 [T/A] NM_178455 SPINT4 EXON Missense_D39V exm1544988 20 44352620 [A/G] NM_178455 SPINT4 EXON Missense_G73S exm1967151 20 44352696 [T/C] NM_178455 SPINT4 EXON Missense_P98L exm-rs6032474 20 44354372 [A/G] exm1545012 20 44404084 [G/C] NM_080614 WFDC3 EXON Missense_N217K exm1545016 20 44404209 [G/C] NM_080614 WFDC3 EXON Missense_G176R exm1967155 20 44404226 [A/C] NM_080614 WFDC3 EXON Missense_C170F exm1545027 20 44405785 [T/G] NM_080614 WFDC3 EXON Missense_A141E exm1545029 20 44405812 [A/G] NM_080614 WFDC3 EXON Missense_P132L exm1545033 20 44416550 [A/G] NM_080614 WFDC3 EXON Missense_C95R exm1545036 20 44416592 [A/G] NM_080614 WFDC3 EXON Missense_R81W exm1545038 20 44417593 [A/C] NM_080614 WFDC3 EXON Missense_R63L exm1545039 20 44417629 [A/G] NM_080614 WFDC3 EXON Missense_P51L exm1545042 20 44417675 [C/G] NM_080614 WFDC3 EXON Missense_H36D exm1545052 20 44421350 [T/G] NM_052951 DNTTIP1 EXON Missense_V47G exm1545053 20 44422600 [A/G] NM_052951 DNTTIP1 EXON Missense_V73I exm1545058 20 44424038 [A/G] NM_052951 DNTTIP1 EXON Missense_A110T exm1545070 20 44430678 [A/G] NM_052951 DNTTIP1 EXON Missense_R180Q exm1545071 20 44430686 [A/G] NM_052951 DNTTIP1 EXON Missense_A183T exm1545106 20 44444032 [C/G] NM_181803,NM_181800,NM_007019,NM_181802,NM_181799,NM_181801 UBE2C,UBE2C,UBE2C,UBE2C,UBE2C,UBE2C EXON Silent,Silent,Silent,Silent,Missense_V74L,Silent exm1545110 20 44444099 [C/G] NM_181803,NM_181800,NM_007019,NM_181802,NM_181799,NM_181801 UBE2C,UBE2C,UBE2C,UBE2C,UBE2C,UBE2C EXON Silent,Silent,Silent,Silent,Missense_S96T,Silent exm2254293 20 44444281 [T/C] NM_181803,NM_181800,NM_007019,NM_181802,NM_181799,NM_181801 UBE2C,UBE2C,UBE2C,UBE2C,UBE2C,UBE2C EXON Silent,Synonymous_N77N,Synonymous_N106N,Synonymous_N67N,Silent,Synonymous_N67N exm2234510 20 44444545 [A/C] NM_181803,NM_181800,NM_007019,NM_181802,NM_181799,NM_181801 UBE2C,UBE2C,UBE2C,UBE2C,UBE2C,UBE2C EXON Silent,Missense_N129K,Missense_N158K,Missense_N119K,Missense_N140K,Missense_N119K exm1545132 20 44452666 [T/C] NM_003279 TNNC2 EXON Missense_G139S exm1545157 20 44462565 [C/G] NM_001042632,NM_001042633,NM_033421,NM_152897 SNX21,SNX21,SNX21,SNX21 EXON Missense_R3G,Missense_R3G,Missense_R3G,Missense_R3G exm1545161 20 44462924 [A/G] NM_001042632,NM_001042633,NM_033421,NM_152897 SNX21,SNX21,SNX21,SNX21 EXON Missense_A36T,Missense_A36T,Missense_A36T,Missense_A36T exm1545173 20 44463081 [G/C] NM_001042632,NM_001042633,NM_033421,NM_152897 SNX21,SNX21,SNX21,SNX21 EXON Missense_G88A,Missense_G88A,Missense_G88A,Missense_G88A exm1545175 20 44463657 [A/G] NM_001042632,NM_001042633,NM_033421,NM_152897 SNX21,SNX21,SNX21,SNX21 EXON Missense_D117N,Missense_D117N,Missense_D117N,Missense_D117N exm1545181 20 44463751 [A/G] NM_001042632,NM_001042633,NM_033421,NM_152897 SNX21,SNX21,SNX21,SNX21 EXON Silent,Missense_Y148C,Missense_Y148C,Missense_Y148C exm1545197 20 44469355 [A/T] NM_001042632,NM_001042633,NM_033421,NM_152897 SNX21,SNX21,SNX21,SNX21 EXON Silent,Silent,Missense_F175L,Missense_F175L exm1545199 20 44469366 [A/C] NM_001042632,NM_001042633,NM_033421,NM_152897 SNX21,SNX21,SNX21,SNX21 EXON Silent,Silent,Missense_H179P,Missense_H179P exm1545206 20 44469432 [A/G] NM_001042632,NM_001042633,NM_033421,NM_152897 SNX21,SNX21,SNX21,SNX21 EXON Silent,Silent,Missense_R201H,Silent exm1545211 20 44469470 [T/C] NM_001042632,NM_001042633,NM_033421,NM_152897 SNX21,SNX21,SNX21,SNX21 EXON Silent,Silent,Missense_R214W,Silent exm1545213 20 44469506 [A/G] NM_001042632,NM_001042633,NM_033421,NM_152897 SNX21,SNX21,SNX21,SNX21 EXON Silent,Silent,Missense_V226M,Silent exm1545221 20 44469698 [A/G] NM_001042632,NM_001042633,NM_033421,NM_152897 SNX21,SNX21,SNX21,SNX21 EXON Silent,Silent,Missense_A290T,Silent exm1545227 20 44469737 [T/C] NM_001042632,NM_001042633,NM_033421,NM_152897 SNX21,SNX21,SNX21,SNX21 EXON Silent,Silent,Missense_R303W,Silent exm1545233 20 44469852 [A/G] NM_001042632,NM_001042633,NM_033421,NM_152897 SNX21,SNX21,SNX21,SNX21 EXON Silent,Silent,Missense_R341H,Silent exm1545236 20 44469867 [A/G] NM_001042632,NM_001042633,NM_033421,NM_152897 SNX21,SNX21,SNX21,SNX21 EXON Silent,Silent,Missense_R346Q,Silent exm2254294 20 44469901 [T/C] NM_001042632,NM_001042633,NM_033421,NM_152897 SNX21,SNX21,SNX21,SNX21 EXON Silent,Silent,Synonymous_P357P,Silent exm1545247 20 44470513 [G/C] NM_001042632,NM_001042633,NM_033421,NM_152897,NM_005469 SNX21,SNX21,SNX21,SNX21,ACOT8 EXON Silent,Silent,Silent,Silent,Missense_I308M exm1545248 20 44470518 [T/C] NM_001042632,NM_001042633,NM_033421,NM_152897,NM_005469 SNX21,SNX21,SNX21,SNX21,ACOT8 EXON Silent,Silent,Silent,Silent,Missense_V307M exm1545252 20 44470571 [T/C] NM_001042632,NM_001042633,NM_033421,NM_152897,NM_005469 SNX21,SNX21,SNX21,SNX21,ACOT8 EXON Silent,Silent,Silent,Silent,Missense_G289E exm1545253 20 44470575 [A/G] NM_001042632,NM_001042633,NM_033421,NM_152897,NM_005469 SNX21,SNX21,SNX21,SNX21,ACOT8 EXON Silent,Silent,Silent,Silent,Missense_H288Y exm1545281 20 44472359 [A/G] NM_005469 ACOT8 EXON Synonymous_G216G exm1545283 20 44472913 [T/C] NM_005469 ACOT8 EXON Missense_R212Q exm1545284 20 44472914 [A/G] NM_005469 ACOT8 EXON Missense_R212W exm1545288 20 44472974 [T/G] NM_005469 ACOT8 EXON Missense_P192T exm1545294 20 44477088 [T/C] NM_005469 ACOT8 Silent exm1545295 20 44477103 [A/C] NM_005469 ACOT8 EXON Missense_I158M exm1545298 20 44477137 [T/G] NM_005469 ACOT8 EXON Missense_P147Q exm1545300 20 44477173 [A/G] NM_005469 ACOT8 EXON Missense_P135L exm1545308 20 44477308 [A/G] NM_005469 ACOT8 EXON Missense_P90L exm1545310 20 44483837 [T/C] NM_005469 ACOT8 EXON Missense_V75I exm1545313 20 44483893 [T/C] NM_005469 ACOT8 EXON Missense_G56D exm1545316 20 44483909 [T/C] NM_005469 ACOT8 EXON Missense_A51T exm1545322 20 44485867 [T/A] NM_005469 ACOT8 EXON Missense_T30S exm1545325 20 44485905 [T/C] NM_005469 ACOT8 EXON Missense_G17D exm1545329 20 44485950 [A/G] NM_005469 ACOT8 EXON Missense_S2L exm2275153 20 44505437 [T/G] NM_080752,NR_037628 ZSWIM3,ZSWIM3 EXON Missense_L80F,Silent exm1545354 20 44505457 [A/G] NM_080752,NR_037628 ZSWIM3,ZSWIM3 EXON Missense_R87K,Silent exm1545366 20 44505964 [T/C] NM_080752,NR_037628 ZSWIM3,ZSWIM3 EXON Missense_A256V,Silent exm1545367 20 44505973 [T/C] NM_080752,NR_037628 ZSWIM3,ZSWIM3 EXON Missense_V259A,Silent exm1545368 20 44506068 [T/C] NM_080752,NR_037628 ZSWIM3,ZSWIM3 EXON Missense_R291W,Silent exm1545381 20 44506243 [A/G] NM_080752,NR_037628 ZSWIM3,ZSWIM3 EXON Missense_N349S,Silent exm1545387 20 44506531 [A/G] NM_080752,NR_037628 ZSWIM3,ZSWIM3 EXON Missense_R445Q,Silent exm1967249 20 44506534 [T/C] NM_080752,NR_037628 ZSWIM3,ZSWIM3 EXON Missense_P446L,Silent exm1545390 20 44506564 [G/C] NM_080752,NR_037628 ZSWIM3,ZSWIM3 EXON Missense_A456G,Silent exm1545392 20 44506623 [A/G] NM_080752,NR_037628 ZSWIM3,ZSWIM3 EXON Missense_A476T,Silent exm1545402 20 44506965 [T/C] NM_080752,NR_037628 ZSWIM3,ZSWIM3 EXON Missense_Y590H,Silent exm1545409 20 44507041 [A/G] NM_080752,NR_037628 ZSWIM3,ZSWIM3 EXON Missense_R615Q,Silent exm1545420 20 44507214 [T/C] NM_080752,NR_037628 ZSWIM3,ZSWIM3 EXON Missense_R673C,Silent exm1545425 20 44511254 [T/C] NM_080603 ZSWIM1 EXON Missense_P8L exm1545426 20 44511257 [A/G] NM_080603 ZSWIM1 EXON Nonsense_W9X exm1967259 20 44511258 [A/G] NM_080603 ZSWIM1 EXON Nonsense_W9X exm1545435 20 44511533 [A/G] NM_080603 ZSWIM1 EXON Missense_R101Q exm1545436 20 44511553 [A/C] NM_080603 ZSWIM1 EXON Missense_L108I exm1545438 20 44511560 [A/G] NM_080603 ZSWIM1 EXON Missense_R110Q exm1545441 20 44511697 [A/G] NM_080603 ZSWIM1 EXON Missense_I156V exm1545447 20 44511794 [A/G] NM_080603 ZSWIM1 EXON Missense_R188Q exm1545452 20 44512013 [C/G] NM_080603 ZSWIM1 EXON Missense_T261S exm1545455 20 44512082 [A/G] NM_080603 ZSWIM1 EXON Missense_R284H exm1545456 20 44512121 [A/G] NM_080603 ZSWIM1 EXON Missense_N297S exm1545472 20 44512444 [T/C] NM_080603 ZSWIM1 EXON Missense_R405C exm1545480 20 44512651 [A/G] NM_080603 ZSWIM1 EXON Missense_D474N exm1545487 20 44515244 [T/C] NM_080608 SPATA25 EXON Missense_R199Q exm1545493 20 44515299 [T/C] NM_080608 SPATA25 EXON Missense_A181T exm1545495 20 44515322 [T/C] NM_080608 SPATA25 EXON Missense_R173Q exm1545497 20 44515335 [T/C] NM_080608 SPATA25 EXON Missense_V169I exm1545507 20 44515550 [T/C] NM_080608 SPATA25 EXON Missense_R97K exm1545509 20 44515577 [T/C] NM_080608 SPATA25 EXON Missense_R88Q exm1545524 20 44516199 [A/G] NM_080608 SPATA25 EXON Missense_P11S exm1545556 20 44519363 [A/G] NR_074073,NM_080749 NEURL2,NEURL2 EXON Silent,Missense_P90S exm1545574 20 44520367 [T/C] NM_001127695,NM_001167594,NM_000308 CTSA,CTSA,CTSA EXON Missense_L54F,Missense_L72F,Missense_L72F exm1967290 20 44520398 [A/G] NM_001127695,NM_001167594,NM_000308 CTSA,CTSA,CTSA EXON Missense_Y64C,Missense_Y82C,Missense_Y82C exm1545583 20 44521044 [A/G] NM_001127695,NM_001167594,NM_000308 CTSA,CTSA,CTSA EXON Missense_N122S,Missense_N123S,Missense_N140S exm1545587 20 44521386 [T/C] NM_001127695,NM_001167594,NM_000308 CTSA,CTSA,CTSA EXON Missense_A156V,Missense_A157V,Missense_A174V exm1545589 20 44521403 [C/G] NM_001127695,NM_001167594,NM_000308 CTSA,CTSA,CTSA EXON Missense_R162G,Missense_R163G,Missense_R180G exm1545605 20 44523472 [A/G] NM_001127695,NM_001167594,NM_000308 CTSA,CTSA,CTSA EXON Missense_D294N,Missense_D295N,Missense_D312N exm1545621 20 44523720 [A/G] NM_001127695,NM_001167594,NM_000308 CTSA,CTSA,CTSA EXON Missense_V346M,Missense_V347M,Missense_V364M exm1545640 20 44526731 [A/G] NM_001127695,NM_001167594,NM_000308 CTSA,CTSA,CTSA EXON Missense_A448T,Missense_A449T,Missense_A466T exm1545662 20 44528279 [T/C] NM_182676,NM_001242920,NM_001242921,NM_006227 PLTP,PLTP,PLTP,PLTP EXON Missense_V370M,Missense_V327M,Missense_V334M,Missense_V422M exm1545672 20 44530943 [A/G] NM_182676,NM_001242920,NM_001242921,NM_006227 PLTP,PLTP,PLTP,PLTP EXON Missense_R328W,Missense_R285W,Missense_R292W,Missense_R380W exm1545674 20 44530966 [T/C] NM_182676,NM_001242920,NM_001242921,NM_006227 PLTP,PLTP,PLTP,PLTP EXON Missense_R320H,Missense_R277H,Missense_R284H,Missense_R372H exm1545686 20 44533474 [A/G] NM_182676,NM_001242920,NM_001242921,NM_006227 PLTP,PLTP,PLTP,PLTP EXON Synonymous_L251L,Synonymous_L208L,Synonymous_L215L,Synonymous_L303L exm1545688 20 44533490 [A/G] NM_182676,NM_001242920,NM_001242921,NM_006227 PLTP,PLTP,PLTP,PLTP EXON Synonymous_H245H,Synonymous_H202H,Synonymous_H209H,Synonymous_H297H exm1545693 20 44533618 [T/C] NM_182676,NM_001242920,NM_001242921,NM_006227 PLTP,PLTP,PLTP,PLTP EXON Missense_R230Q,Missense_R187Q,Missense_R194Q,Missense_R282Q exm1545694 20 44533631 [C/G] NM_182676,NM_001242920,NM_001242921,NM_006227 PLTP,PLTP,PLTP,PLTP EXON Missense_E226Q,Missense_E183Q,Missense_E190Q,Missense_E278Q exm1545713 20 44536383 [A/G] NM_182676,NM_001242920,NM_001242921,NM_006227 PLTP,PLTP,PLTP,PLTP EXON Synonymous_V135V,Synonymous_V92V,Synonymous_V99V,Synonymous_V187V exm1545723 20 44538177 [T/C] NM_182676,NM_001242920,NM_001242921,NM_006227 PLTP,PLTP,PLTP,PLTP EXON Silent,Silent,Missense_A67T,Missense_A155T exm1545730 20 44538269 [T/G] NM_182676,NM_001242920,NM_001242921,NM_006227 PLTP,PLTP,PLTP,PLTP EXON Silent,Silent,Missense_S36Y,Missense_S124Y exm1545731 20 44538271 [T/C] NM_182676,NM_001242920,NM_001242921,NM_006227 PLTP,PLTP,PLTP,PLTP EXON Silent,Silent,Synonymous_V35V,Synonymous_V123V exm1545737 20 44538610 [A/G] NM_182676,NM_001242920,NM_001242921,NM_006227 PLTP,PLTP,PLTP,PLTP EXON Synonymous_R100R,Silent,Synonymous_R12R,Synonymous_R100R exm1545738 20 44538702 [A/C] NM_182676,NM_001242920,NM_001242921,NM_006227 PLTP,PLTP,PLTP,PLTP EXON Missense_V70F,Silent,Silent,Missense_V70F exm1545750 20 44540037 [A/G] NM_182676,NM_001242920,NM_006227 PLTP,PLTP,PLTP EXON Missense_F19L,Missense_F19L,Missense_F19L exm1545771 20 44569202 [A/G] NM_022104 PCIF1 EXON Missense_R113Q exm1545773 20 44569210 [T/C] NM_022104 PCIF1 EXON Missense_S116P exm1545777 20 44569470 [T/C] NM_022104 PCIF1 EXON Missense_T137I exm1545788 20 44569697 [A/C] NM_022104 PCIF1 EXON Missense_Y175S exm1545790 20 44569729 [A/G] NM_022104 PCIF1 EXON Missense_I186V exm1545814 20 44573550 [T/C] NM_022104 PCIF1 EXON Missense_S350L exm1545846 20 44575987 [A/G] NM_022104 PCIF1 EXON Missense_R598H exm1545854 20 44576246 [T/C] NM_022104 PCIF1 EXON Missense_T656M exm1967392 20 44576249 [T/C] NM_022104 PCIF1 EXON Missense_P657L exm1545858 20 44576297 [A/G] NM_022104 PCIF1 EXON Missense_S673N exm-rs7679 20 44576502 [T/C] NM_022104 PCIF1 EXON Silent exm1545871 20 44577623 [T/C] NM_022095 ZNF335 EXON Missense_E1333G exm1545883 20 44577868 [A/G] NM_022095 ZNF335 EXON Missense_P1281L exm1545887 20 44577991 [T/G] NM_022095 ZNF335 EXON Missense_P1267Q exm1545910 20 44578707 [A/G] NM_022095 ZNF335 EXON Synonymous_T1163T exm1545919 20 44578953 [T/C] NM_022095 ZNF335 EXON Missense_R1131K exm1545924 20 44579099 [T/C] NM_022095 ZNF335 EXON Missense_G1109R exm1545946 20 44581154 [T/C] NM_022095 ZNF335 EXON Missense_A941T exm1545953 20 44581348 [A/G] NM_022095 ZNF335 EXON Synonymous_S901S exm1545959 20 44582435 [T/G] NM_022095 ZNF335 EXON Missense_D865E exm1545966 20 44586253 [T/C] NM_022095 ZNF335 EXON Missense_Q805R exm1545967 20 44586263 [T/C] NM_022095 ZNF335 EXON Missense_M802V exm1545972 20 44586301 [A/G] NM_022095 ZNF335 EXON Missense_A789V exm1545983 20 44587908 [A/T] NM_022095 ZNF335 EXON Missense_I729F exm1545986 20 44587926 [A/C] NM_022095 ZNF335 EXON Missense_F723V exm1546002 20 44588904 [A/G] NM_022095 ZNF335 EXON Missense_P655S exm1546004 20 44588937 [T/C] NM_022095 ZNF335 EXON Missense_V644I exm1546033 20 44592227 [T/C] NM_022095 ZNF335 EXON Missense_R473H exm1546044 20 44592402 [A/G] NM_022095 ZNF335 EXON Missense_R444C exm1546048 20 44592515 [A/C] NM_022095 ZNF335 EXON Missense_V406G exm1546060 20 44594293 [T/C] NM_022095 ZNF335 EXON Missense_R359H exm1546070 20 44596207 [G/C] NM_022095 ZNF335 EXON Missense_S294T exm1546071 20 44596262 [T/C] NM_022095 ZNF335 EXON Missense_A276T exm1546076 20 44596379 [A/G] NM_022095 ZNF335 EXON Missense_R270C exm1546078 20 44596403 [A/G] NM_022095 ZNF335 EXON Missense_R262C exm1546101 20 44596938 [T/C] NM_022095 ZNF335 EXON Missense_Q169R exm1546111 20 44598236 [A/C] NM_022095 ZNF335 EXON Missense_V99G exm1546112 20 44598239 [T/C] NM_022095 ZNF335 EXON Missense_G98E exm1967475 20 44598298 [T/G] NM_022095 ZNF335 EXON Missense_D78E exm1546129 20 44637624 [T/C] NM_004994 MMP9 EXON Missense_A20V exm1546130 20 44637635 [T/C] NM_004994 MMP9 EXON Missense_R24C exm1546133 20 44637678 [A/G] NM_004994 MMP9 EXON Missense_N38S exm1546156 20 44639214 [T/C] NM_004994 MMP9 EXON Missense_T155I exm1546157 20 44639243 [A/G] NM_004994 MMP9 EXON Missense_D165N exm1967488 20 44639269 [A/G] NM_004994 MMP9 EXON Synonymous_A173A exm1546163 20 44639599 [T/C] NM_004994 MMP9 EXON Missense_L187F exm1546171 20 44639848 [A/G] NM_004994 MMP9 EXON Missense_R239H exm1546174 20 44639905 [T/C] NM_004994 MMP9 EXON Missense_T258I exm1546175 20 44639914 [A/G] NM_004994 MMP9 EXON Missense_N261S exm1546177 20 44639954 [G/C] NM_004994 MMP9 EXON Missense_E274D exm1546178 20 44640225 [A/G] NM_004994 MMP9 EXON Missense_Q279R exm1546189 20 44640787 [A/G] NM_004994 MMP9 EXON Missense_V337M exm1546202 20 44641177 [A/C] NM_004994 MMP9 EXON Missense_P429H exm1546226 20 44642364 [A/G] NM_004994 MMP9 EXON Nonsense_W560X exm1546229 20 44642406 [G/C] NM_004994 MMP9 EXON Missense_R574P exm1546238 20 44643111 [A/G] NM_004994 MMP9 EXON Missense_R668Q exm1546244 20 44644927 [A/G] NM_004994 MMP9 EXON Missense_V682M exm2254295 20 44664493 [T/G] NM_001134771,NM_020708 SLC12A5,SLC12A5 EXON Synonymous_R142R,Synonymous_R119R exm1546292 20 44670000 [A/G] NM_001134771,NM_020708 SLC12A5,SLC12A5 EXON Missense_R319H,Missense_R296H exm1546298 20 44670060 [A/G] NM_001134771,NM_020708 SLC12A5,SLC12A5 EXON Missense_R339Q,Missense_R316Q exm1546309 20 44671914 [A/T] NM_001134771,NM_020708 SLC12A5,SLC12A5 EXON Missense_T420S,Missense_T397S exm1546355 20 44681657 [A/G] NM_001134771,NM_020708 SLC12A5,SLC12A5 EXON Missense_M836I,Missense_M813I exm1546376 20 44684856 [A/G] NM_001134771,NM_020708 SLC12A5,SLC12A5 EXON Missense_R975H,Missense_R952H exm1546408 20 44691234 [T/C] NM_020967 NCOA5 EXON Missense_N482S exm1546410 20 44691313 [G/C] NM_020967 NCOA5 EXON Missense_A456P exm1546413 20 44691360 [T/C] NM_020967 NCOA5 EXON Missense_N440S exm1546425 20 44692145 [T/C] NM_020967 NCOA5 EXON Missense_R335H exm1546429 20 44692202 [A/G] NM_020967 NCOA5 EXON Missense_M316T exm1546448 20 44695817 [T/C] NM_020967 NCOA5 EXON Missense_R169H exm1546450 20 44697221 [A/T] NM_020967 NCOA5 EXON Missense_D141V exm-rs6074022 20 44740196 [T/C] exm-rs4810485 20 44747947 [T/G] NM_152854,NM_001250 CD40,CD40 Silent,Silent exm1546483 20 44750480 [T/G] NM_152854,NM_001250 CD40,CD40 EXON Missense_A25S,Missense_A25S exm1546488 20 44751321 [A/G] NM_152854,NM_001250 CD40,CD40 EXON Missense_H110R,Missense_H110R exm1546491 20 44751363 [T/C] NM_152854,NM_001250 CD40,CD40 EXON Missense_S124L,Missense_S124L exm1546509 20 44756823 [T/C] NM_152854,NM_001250 CD40,CD40 EXON Missense_R182W,Synonymous_F202F exm1546510 20 44756827 [A/G] NM_152854,NM_001250 CD40,CD40 EXON Missense_D183G,Missense_I204V exm1967627 20 44756839 [A/G] NM_152854,NM_001250 CD40,CD40 EXON Missense_H187R,Missense_I208V exm2254296 20 44806628 [A/G] NM_021248 CDH22 EXON Synonymous_P624P exm1546571 20 44806743 [A/G] NM_021248 CDH22 EXON Missense_P586L exm1546574 20 44806808 [G/C] NM_021248 CDH22 EXON Missense_H564Q exm1546611 20 44841750 [T/C] NM_021248 CDH22 EXON Missense_V306M exm1546629 20 44856165 [T/A] NM_021248 CDH22 EXON Missense_T218S exm1546640 20 44869653 [A/G] NM_021248 CDH22 EXON Missense_R167C exm1546651 20 44869878 [T/C] NM_021248 CDH22 EXON Missense_E92K exm1546671 20 44979160 [T/C] NM_173073,NM_015945,NM_173179 SLC35C2,SLC35C2,SLC35C2 EXON Missense_D303G,Missense_D324G,Missense_D324G exm1546689 20 44980832 [T/C] NM_173073,NM_015945,NM_173179 SLC35C2,SLC35C2,SLC35C2 EXON Missense_R211H,Missense_R232H,Missense_R232H exm1546690 20 44980833 [A/G] NM_173073,NM_015945,NM_173179 SLC35C2,SLC35C2,SLC35C2 EXON Missense_R211C,Missense_R232C,Missense_R232C exm1546694 20 44983603 [A/G] NM_173073,NM_015945,NM_173179 SLC35C2,SLC35C2,SLC35C2 EXON Synonymous_G172G,Synonymous_G193G,Synonymous_G193G exm1546698 20 44983713 [A/G] NM_173073,NM_015945,NM_173179 SLC35C2,SLC35C2,SLC35C2 EXON Synonymous_L171L,Synonymous_L192L,Synonymous_L192L exm1546808 20 45014787 [A/C] NM_133171,NM_182764 ELMO2,ELMO2 EXON Missense_G218V,Missense_G218V exm2254298 20 45014804 [A/G] NM_133171,NM_182764 ELMO2,ELMO2 EXON Synonymous_A212A,Synonymous_A212A exm1546817 20 45014893 [A/G] NM_133171,NM_182764 ELMO2,ELMO2 EXON Missense_P183S,Missense_P183S exm1546824 20 45017847 [A/G] NM_133171,NM_182764 ELMO2,ELMO2 EXON Missense_R86C,Missense_R86C exm1967734 20 45021740 [T/C] NM_133171,NM_182764 ELMO2,ELMO2 EXON Missense_I79V,Missense_I79V exm1546858 20 45130122 [G/C] NR_073026,NM_001270497,NM_018102 ZNF334,ZNF334,ZNF334 EXON Silent,Missense_R618T,Missense_R619T exm1546869 20 45130338 [T/C] NR_073026,NM_001270497,NM_018102 ZNF334,ZNF334,ZNF334 EXON Silent,Missense_N546S,Missense_N547S exm1546872 20 45130407 [T/C] NR_073026,NM_001270497,NM_018102 ZNF334,ZNF334,ZNF334 EXON Silent,Missense_H523R,Missense_H524R exm1546875 20 45130453 [T/C] NR_073026,NM_001270497,NM_018102 ZNF334,ZNF334,ZNF334 EXON Silent,Missense_R508G,Missense_R509G exm1546887 20 45130647 [A/G] NR_073026,NM_001270497,NM_018102 ZNF334,ZNF334,ZNF334 EXON Silent,Missense_T443M,Missense_T444M exm1546900 20 45130983 [T/C] NR_073026,NM_001270497,NM_018102 ZNF334,ZNF334,ZNF334 EXON Silent,Missense_R331Q,Missense_R332Q exm1967757 20 45131121 [T/A] NR_073026,NM_001270497,NM_018102 ZNF334,ZNF334,ZNF334 EXON Silent,Missense_I285N,Missense_I286N exm1546908 20 45131127 [T/C] NR_073026,NM_001270497,NM_018102 ZNF334,ZNF334,ZNF334 EXON Silent,Missense_R283Q,Missense_R284Q exm1546909 20 45131128 [A/G] NR_073026,NM_001270497,NM_018102 ZNF334,ZNF334,ZNF334 EXON Silent,Nonsense_R283X,Nonsense_R284X exm1546911 20 45131134 [A/G] NR_073026,NM_001270497,NM_018102 ZNF334,ZNF334,ZNF334 EXON Silent,Nonsense_R281X,Nonsense_R282X exm1546913 20 45131155 [A/G] NR_073026,NM_001270497,NM_018102 ZNF334,ZNF334,ZNF334 EXON Silent,Missense_R274C,Missense_R275C exm1546921 20 45131337 [T/C] NR_073026,NM_001270497,NM_018102 ZNF334,ZNF334,ZNF334 EXON Silent,Missense_C213Y,Missense_C214Y exm1546923 20 45131385 [A/G] NR_073026,NM_001270497,NM_018102 ZNF334,ZNF334,ZNF334 EXON Silent,Missense_L197P,Missense_L198P exm1546932 20 45131596 [G/C] NR_073026,NM_001270497,NM_018102 ZNF334,ZNF334,ZNF334 EXON Silent,Missense_P127A,Missense_P128A exm1546933 20 45131598 [A/G] NR_073026,NM_001270497,NM_018102 ZNF334,ZNF334,ZNF334 EXON Silent,Missense_V126A,Missense_V127A exm1546937 20 45131665 [T/C] NR_073026,NM_001270497,NM_018102 ZNF334,ZNF334,ZNF334 EXON Silent,Missense_N104D,Missense_N105D exm1546939 20 45131677 [T/C] NR_073026,NM_001270497,NM_018102 ZNF334,ZNF334,ZNF334 EXON Silent,Missense_V100I,Missense_V101I exm1546941 20 45131724 [C/G] NR_073026,NM_001270497,NM_018102 ZNF334,ZNF334,ZNF334 EXON Silent,Missense_A84G,Missense_A85G exm1546944 20 45132868 [T/G] NR_073026,NM_001270497,NM_018102 ZNF334,ZNF334,ZNF334 EXON Silent,Missense_N75H,Missense_N76H exm2254299 20 45141400 [A/C] NR_073026,NM_001270497,NM_018102 ZNF334,ZNF334,ZNF334 Silent,Silent,Silent exm1546970 20 45169957 [T/C] NM_080721 OCSTAMP EXON Missense_V553M exm1546995 20 45174465 [T/C] NM_080721 OCSTAMP EXON Missense_R183Q exm2254300 20 45174632 [A/G] NM_080721 OCSTAMP EXON Synonymous_T127T exm1547006 20 45174900 [A/G] NM_080721 OCSTAMP EXON Missense_S38F exm1547009 20 45179197 [T/C] NM_080721 OCSTAMP EXON Missense_M1I exm1547017 20 45188833 [T/C] NM_022829,NM_001193342,NM_001193340,NM_001193339,NM_001011554 SLC13A3,SLC13A3,SLC13A3,SLC13A3,SLC13A3 EXON Missense_R546Q,Missense_R448Q,Missense_R464Q,Missense_R496Q,Missense_R499Q exm1967788 20 45194945 [T/C] NM_022829,NM_001193342,NM_001193340,NM_001193339,NM_001011554 SLC13A3,SLC13A3,SLC13A3,SLC13A3,SLC13A3 EXON Missense_V473M,Missense_V375M,Missense_V391M,Missense_V423M,Missense_V426M exm1547030 20 45194978 [T/C] NM_022829,NM_001193342,NM_001193340,NM_001193339,NM_001011554 SLC13A3,SLC13A3,SLC13A3,SLC13A3,SLC13A3 EXON Missense_V462M,Missense_V364M,Missense_V380M,Missense_V412M,Missense_V415M exm1547041 20 45212283 [T/C] NM_022829,NM_001193342,NM_001193340,NM_001193339,NM_001011554 SLC13A3,SLC13A3,SLC13A3,SLC13A3,SLC13A3 EXON Missense_V383M,Missense_V285M,Missense_V301M,Missense_V333M,Missense_V336M exm1547044 20 45212310 [T/A] NM_022829,NM_001193342,NM_001193340,NM_001193339,NM_001011554 SLC13A3,SLC13A3,SLC13A3,SLC13A3,SLC13A3 Silent,Silent,Silent,Silent,Silent exm1547049 20 45216744 [A/G] NM_022829,NM_001193342,NM_001193340,NM_001193339,NM_001011554 SLC13A3,SLC13A3,SLC13A3,SLC13A3,SLC13A3 EXON Missense_R359W,Missense_R261W,Silent,Missense_R309W,Missense_R312W exm1547061 20 45217841 [T/C] NM_022829,NM_001193342,NM_001193340,NM_001193339,NM_001011554 SLC13A3,SLC13A3,SLC13A3,SLC13A3,SLC13A3 EXON Missense_R325Q,Missense_R227Q,Missense_R278Q,Missense_R275Q,Missense_R278Q exm1967800 20 45221106 [A/G] NM_022829,NM_001193342,NM_001193340,NM_001193339,NM_001011554 SLC13A3,SLC13A3,SLC13A3,SLC13A3,SLC13A3 EXON Missense_M286T,Missense_M188T,Missense_M239T,Silent,Missense_M239T exm1547071 20 45224837 [T/C] NM_022829,NM_001193342,NM_001193340,NM_001193339,NM_001011554 SLC13A3,SLC13A3,SLC13A3,SLC13A3,SLC13A3 EXON Synonymous_T251T,Synonymous_T153T,Synonymous_T204T,Missense_R229Q,Synonymous_T204T exm1547072 20 45224933 [A/G] NM_022829,NM_001193342,NM_001193340,NM_001193339,NM_001011554 SLC13A3,SLC13A3,SLC13A3,SLC13A3,SLC13A3 EXON Synonymous_D219D,Synonymous_D121D,Synonymous_D172D,Missense_T197I,Synonymous_D172D exm1547074 20 45224967 [T/C] NM_022829,NM_001193342,NM_001193340,NM_001193339,NM_001011554 SLC13A3,SLC13A3,SLC13A3,SLC13A3,SLC13A3 EXON Missense_G208E,Missense_G110E,Missense_G161E,Missense_G186R,Missense_G161E exm2234534 20 45224971 [G/C] NM_022829,NM_001193342,NM_001193340,NM_001193339,NM_001011554 SLC13A3,SLC13A3,SLC13A3,SLC13A3,SLC13A3 EXON Missense_P207A,Missense_P109A,Missense_P160A,Synonymous_T184T,Missense_P160A exm1547080 20 45228674 [T/C] NM_022829,NM_001193342,NM_001193340,NM_001193339,NM_001011554 SLC13A3,SLC13A3,SLC13A3,SLC13A3,SLC13A3 EXON Missense_A182T,Missense_A84T,Missense_A135T,Silent,Missense_A135T exm1547098 20 45242148 [A/G] NM_022829,NM_001193342,NM_001193340,NM_001193339,NM_001011554 SLC13A3,SLC13A3,SLC13A3,SLC13A3,SLC13A3 EXON Missense_R110W,Missense_R12W,Missense_R63W,Missense_R110W,Missense_R63W exm1547099 20 45242184 [A/T] NM_022829,NM_001193342,NM_001193340,NM_001193339,NM_001011554 SLC13A3,SLC13A3,SLC13A3,SLC13A3,SLC13A3 EXON Missense_I98F,Silent,Missense_I51F,Missense_I98F,Missense_I51F exm1547108 20 45242358 [A/G] NM_022829,NM_001193342,NM_001193340,NM_001193339,NM_001011554 SLC13A3,SLC13A3,SLC13A3,SLC13A3,SLC13A3 EXON Missense_R40C,Silent,Silent,Missense_R40C,Silent exm2272935 20 45269556 [T/C] NM_022829,NM_001193342,NM_001193340,NM_001193339,NM_001011554 SLC13A3,SLC13A3,SLC13A3,SLC13A3,SLC13A3 Silent,Silent,Silent,Silent,Silent exm2234536 20 45315721 [T/C] NM_033550 TP53RK EXON Missense_T145A exm1547124 20 45315750 [A/G] NM_033550 TP53RK EXON Missense_T135I exm1547125 20 45315769 [T/C] NM_033550 TP53RK EXON Missense_T129A exm1547126 20 45315786 [T/C] NM_033550 TP53RK EXON Missense_R123Q exm1547127 20 45315817 [T/C] NM_033550 TP53RK EXON Missense_M113V exm1547128 20 45315837 [T/G] NM_033550 TP53RK EXON Missense_Y106S exm1967819 20 45318020 [T/C] NM_033550 TP53RK EXON Missense_G12S exm1547134 20 45318031 [A/G] NM_033550 TP53RK EXON Missense_T8M exm1547157 20 45353992 [G/C] NM_030777 SLC2A10 EXON Missense_A106G exm1547164 20 45354190 [T/C] NM_030777 SLC2A10 EXON Missense_T172I exm1547169 20 45354276 [T/C] NM_030777 SLC2A10 EXON Missense_L201F exm1547170 20 45354291 [A/G] NM_030777 SLC2A10 EXON Missense_A206T exm1547176 20 45354349 [A/G] NM_030777 SLC2A10 EXON Missense_R225H exm1547178 20 45354351 [A/G] NM_030777 SLC2A10 EXON Missense_D226N exm1547195 20 45354606 [A/G] NM_030777 SLC2A10 EXON Missense_V311I exm1547202 20 45354685 [G/C] NM_030777 SLC2A10 EXON Missense_G337A exm1547225 20 45355545 [A/G] NM_030777 SLC2A10 EXON Missense_R444Q exm1547227 20 45355584 [T/C] NM_030777 SLC2A10 EXON Missense_A457V exm1547233 20 45358005 [T/G] NM_030777 SLC2A10 EXON Missense_L475F exm1547240 20 45358121 [A/G] NM_030777 SLC2A10 EXON Missense_K514R exm1547243 20 45362395 [T/G] NM_030777 SLC2A10 EXON Synonymous_R516R exm1547244 20 45362399 [A/G] NM_030777 SLC2A10 EXON Missense_T518A exm1547246 20 45362447 [T/C] NM_030777 SLC2A10 EXON Missense_R534C exm1547248 20 45362456 [A/G] NM_030777 SLC2A10 EXON Missense_I537V exm-rs6066084 20 45460323 [A/G] exm1547259 20 45618719 [T/C] NM_172110,NM_005244 EYA2,EYA2 EXON Missense_R24C,Missense_R24C exm1547271 20 45633702 [A/G] NM_172110,NM_005244 EYA2,EYA2 EXON Missense_A93T,Missense_A93T exm1547276 20 45644897 [T/C] NM_172110,NM_005244 EYA2,EYA2 EXON Missense_S126P,Missense_S126P exm1547281 20 45700877 [A/G] NM_172110,NM_005244 EYA2,EYA2 EXON Missense_G157R,Missense_G157R exm1547291 20 45702872 [A/G] NM_172110,NM_005244 EYA2,EYA2 EXON Missense_V187I,Missense_V187I exm2234538 20 45717878 [T/G] NM_172110,NM_005244 EYA2,EYA2 EXON Missense_G221V,Missense_G221V exm1547295 20 45717896 [A/G] NM_172110,NM_005244 EYA2,EYA2 EXON Missense_N227S,Missense_N227S exm1547297 20 45717928 [A/G] NM_172110,NM_005244 EYA2,EYA2 EXON Missense_T238A,Missense_T238A exm1547298 20 45717933 [C/G] NM_172110,NM_005244 EYA2,EYA2 EXON Missense_D239E,Missense_D239E exm1547299 20 45717943 [T/C] NM_172110,NM_005244 EYA2,EYA2 EXON Missense_R243W,Missense_R243W exm1547302 20 45717955 [A/G] NM_172110,NM_005244 EYA2,EYA2 EXON Missense_G247R,Missense_G247R exm1547311 20 45771708 [T/C] NM_172110,NM_005244 EYA2,EYA2 EXON Missense_T300M,Missense_T300M exm1547315 20 45797805 [A/G] NM_172110,NM_005244 EYA2,EYA2 EXON Missense_V333I,Missense_V333I exm1547323 20 45801434 [A/G] NM_172110,NM_005244 EYA2,EYA2 EXON Missense_G373S,Missense_G373S exm1547324 20 45801437 [A/G] NM_172110,NM_005244 EYA2,EYA2 EXON Missense_V374M,Missense_V374M exm1547331 20 45808514 [T/C] NM_172110,NM_005244 EYA2,EYA2 EXON Silent,Missense_L423F exm1547339 20 45812022 [G/C] NM_172110,NM_005244 EYA2,EYA2 EXON Missense_E428Q,Missense_E507Q exm1547351 20 45839488 [A/G] NM_183047,NM_183048,NM_012408 ZMYND8,ZMYND8,ZMYND8 EXON Missense_S1162L,Missense_S1109L,Missense_S1134L exm1547360 20 45850015 [T/C] NM_183047,NM_183048,NM_012408 ZMYND8,ZMYND8,ZMYND8 EXON Missense_A1077T,Missense_A1052T,Missense_A1077T exm1547363 20 45850050 [A/G] NM_183047,NM_183048,NM_012408 ZMYND8,ZMYND8,ZMYND8 EXON Missense_S1065L,Missense_S1040L,Missense_S1065L exm1547378 20 45865120 [T/C] NM_183047,NM_183048,NM_012408 ZMYND8,ZMYND8,ZMYND8 EXON Missense_A890T,Missense_A865T,Missense_A890T exm1547400 20 45867823 [T/C] NM_183047,NM_183048,NM_012408 ZMYND8,ZMYND8,ZMYND8 EXON Missense_V782M,Missense_V757M,Missense_V782M exm1547403 20 45867852 [A/G] NM_183047,NM_183048,NM_012408 ZMYND8,ZMYND8,ZMYND8 EXON Missense_V772A,Missense_V747A,Missense_V772A exm1547406 20 45874761 [T/C] NM_183047,NM_183048,NM_012408 ZMYND8,ZMYND8,ZMYND8 EXON Missense_K759E,Missense_K734E,Missense_K759E exm1547421 20 45875147 [C/G] NM_183047,NM_183048,NM_012408 ZMYND8,ZMYND8,ZMYND8 EXON Missense_S630C,Missense_S605C,Missense_S630C exm1547422 20 45875153 [T/G] NM_183047,NM_183048,NM_012408 ZMYND8,ZMYND8,ZMYND8 EXON Missense_Q628P,Missense_Q603P,Missense_Q628P exm1547433 20 45878118 [C/G] NM_183047,NM_183048,NM_012408 ZMYND8,ZMYND8,ZMYND8 EXON Missense_V563L,Missense_V538L,Missense_V563L exm1547442 20 45891085 [A/G] NM_183047,NM_183048,NM_012408 ZMYND8,ZMYND8,ZMYND8 EXON Missense_T523M,Missense_T498M,Missense_T523M exm1547447 20 45891151 [A/G] NM_183047,NM_183048,NM_012408 ZMYND8,ZMYND8,ZMYND8 EXON Missense_T501M,Missense_T476M,Missense_T501M exm1547455 20 45905118 [T/C] NM_183047,NM_183048,NM_012408 ZMYND8,ZMYND8,ZMYND8 EXON Missense_A474T,Missense_A449T,Missense_A474T exm1547464 20 45905293 [A/C] NM_183047,NM_183048,NM_012408 ZMYND8,ZMYND8,ZMYND8 EXON Missense_E415D,Missense_E390D,Missense_E415D exm2254302 20 45920588 [A/G] NM_183047,NM_183048,NM_012408 ZMYND8,ZMYND8,ZMYND8 EXON Synonymous_D204D,Synonymous_D179D,Synonymous_D204D exm1547490 20 45920588 [A/G] NM_183047,NM_183048,NM_012408 ZMYND8,ZMYND8,ZMYND8 EXON Synonymous_D204D,Synonymous_D179D,Synonymous_D204D exm2272936 20 45986984 [T/C] exm2272902 20 46114027 [T/C] exm2254303 20 46254213 [A/G] NM_181659,NM_006534,NM_001174087,NM_001174088 NCOA3,NCOA3,NCOA3,NCOA3 EXON Synonymous_P115P,Synonymous_P115P,Synonymous_P115P,Synonymous_P115P exm1547532 20 46256424 [T/C] NM_181659,NM_006534,NM_001174087,NM_001174088 NCOA3,NCOA3,NCOA3,NCOA3 EXON Missense_R218C,Missense_R218C,Missense_R218C,Missense_R218C exm1547539 20 46262263 [A/G] NM_181659,NM_006534,NM_001174087,NM_001174088 NCOA3,NCOA3,NCOA3,NCOA3 EXON Missense_N283D,Missense_N283D,Missense_N283D,Missense_N283D exm1547541 20 46262366 [A/G] NM_181659,NM_006534,NM_001174087,NM_001174088 NCOA3,NCOA3,NCOA3,NCOA3 EXON Missense_R317H,Missense_R317H,Missense_R317H,Missense_R317H exm1547550 20 46264124 [A/G] NM_181659,NM_006534,NM_001174087,NM_001174088 NCOA3,NCOA3,NCOA3,NCOA3 EXON Missense_M391V,Missense_M391V,Missense_M391V,Missense_M401V exm1547560 20 46264406 [T/C] NM_181659,NM_006534,NM_001174087,NM_001174088 NCOA3,NCOA3,NCOA3,NCOA3 EXON Missense_R485C,Missense_R485C,Missense_R485C,Missense_R495C exm1547561 20 46264659 [T/C] NM_181659,NM_006534,NM_001174087,NM_001174088 NCOA3,NCOA3,NCOA3,NCOA3 EXON Missense_S510F,Missense_S510F,Missense_S510F,Missense_S520F exm1547565 20 46264796 [A/G] NM_181659,NM_006534,NM_001174087,NM_001174088 NCOA3,NCOA3,NCOA3,NCOA3 EXON Missense_I556V,Missense_I556V,Missense_I556V,Missense_I566V exm1547567 20 46264805 [T/C] NM_181659,NM_006534,NM_001174087,NM_001174088 NCOA3,NCOA3,NCOA3,NCOA3 EXON Missense_P559S,Missense_P559S,Missense_P559S,Missense_P569S exm1547569 20 46264888 [G/C] NM_181659,NM_006534,NM_001174087,NM_001174088 NCOA3,NCOA3,NCOA3,NCOA3 EXON Missense_Q586H,Missense_Q586H,Missense_Q586H,Missense_Q596H exm1547573 20 46265025 [A/G] NM_181659,NM_006534,NM_001174087,NM_001174088 NCOA3,NCOA3,NCOA3,NCOA3 EXON Missense_R632Q,Missense_R632Q,Missense_R632Q,Missense_R642Q exm1547575 20 46265105 [A/G] NM_181659,NM_006534,NM_001174087,NM_001174088 NCOA3,NCOA3,NCOA3,NCOA3 EXON Missense_V659I,Missense_V659I,Missense_V659I,Missense_V669I exm1547580 20 46265385 [T/C] NM_181659,NM_006534,NM_001174087,NM_001174088 NCOA3,NCOA3,NCOA3,NCOA3 EXON Missense_S752F,Missense_S752F,Missense_S752F,Missense_S762F exm1547583 20 46265459 [T/G] NM_181659,NM_006534,NM_001174087,NM_001174088 NCOA3,NCOA3,NCOA3,NCOA3 EXON Missense_S777A,Missense_S777A,Missense_S777A,Missense_S787A exm1547584 20 46266446 [G/C] NM_181659,NM_006534,NM_001174087,NM_001174088 NCOA3,NCOA3,NCOA3,NCOA3 EXON Missense_D811H,Missense_D811H,Missense_D811H,Missense_D821H exm1547599 20 46268500 [G/C] NM_181659,NM_006534,NM_001174087,NM_001174088 NCOA3,NCOA3,NCOA3,NCOA3 EXON Missense_L963V,Missense_L963V,Missense_L963V,Missense_L958V exm1547611 20 46271052 [G/C] NM_181659,NM_006534,NM_001174087,NM_001174088 NCOA3,NCOA3,NCOA3,NCOA3 EXON Missense_T1059S,Missense_T1059S,Missense_T1059S,Missense_T1054S exm1547614 20 46275917 [A/C] NM_181659,NM_006534,NM_001174087,NM_001174088 NCOA3,NCOA3,NCOA3,NCOA3 EXON Missense_Q1118P,Missense_Q1118P,Missense_Q1118P,Missense_Q1113P exm1547616 20 46275938 [A/G] NM_181659,NM_006534,NM_001174087,NM_001174088 NCOA3,NCOA3,NCOA3,NCOA3 EXON Missense_G1125D,Missense_G1125D,Missense_G1125D,Missense_G1120D exm2275154 20 46276051 [T/C] NM_181659,NM_006534,NM_001174087,NM_001174088 NCOA3,NCOA3,NCOA3,NCOA3 EXON Missense_R1163W,Missense_R1163W,Missense_R1163W,Missense_R1158W exm1547630 20 46279753 [A/G] NM_181659,NM_006534,NM_001174087,NM_001174088 NCOA3,NCOA3,NCOA3,NCOA3 EXON Missense_A1227T,Missense_A1223T,Missense_A1226T,Missense_A1218T exm1547634 20 46279813 [A/C] NM_181659,NM_006534,NM_001174087,NM_001174088 NCOA3,NCOA3,NCOA3,NCOA3 EXON Missense_M1247L,Missense_M1243L,Missense_M1246L,Missense_M1238L exm1547649 20 46279918 [T/C] NM_181659,NM_006534,NM_001174087,NM_001174088 NCOA3,NCOA3,NCOA3,NCOA3 EXON Missense_P1282S,Missense_P1278S,Missense_P1281S,Missense_P1273S exm1547655 20 46280019 [T/C] NM_181659,NM_006534,NM_001174087,NM_001174088 NCOA3,NCOA3,NCOA3,NCOA3 EXON Synonymous_Y1315Y,Synonymous_Y1311Y,Synonymous_Y1314Y,Synonymous_Y1306Y exm1547691 20 46290517 [T/C] NM_198596,NM_001161841,NM_018837 SULF2,SULF2,SULF2 EXON Missense_D832N,Missense_G832R,Missense_G832R exm1547720 20 46292275 [T/C] NM_198596,NM_001161841,NM_018837 SULF2,SULF2,SULF2 EXON Missense_N717D,Missense_N717D,Missense_N717D exm1547725 20 46292332 [A/C] NM_198596,NM_001161841,NM_018837 SULF2,SULF2,SULF2 EXON Missense_L698V,Missense_L698V,Missense_L698V exm1547726 20 46292361 [T/C] NM_198596,NM_001161841,NM_018837 SULF2,SULF2,SULF2 EXON Missense_G688D,Missense_G688D,Missense_G688D exm1547730 20 46292910 [T/C] NM_198596,NM_001161841,NM_018837 SULF2,SULF2,SULF2 EXON Missense_R674H,Missense_R674H,Missense_R674H exm1547764 20 46295208 [T/C] NM_198596,NM_001161841,NM_018837 SULF2,SULF2,SULF2 EXON Missense_S534N,Missense_S534N,Missense_S534N exm1547765 20 46295212 [A/G] NM_198596,NM_001161841,NM_018837 SULF2,SULF2,SULF2 EXON Missense_R533C,Missense_R533C,Missense_R533C exm1547769 20 46300962 [T/C] NM_198596,NM_001161841,NM_018837 SULF2,SULF2,SULF2 EXON Missense_R519Q,Missense_R519Q,Missense_R519Q exm1547773 20 46301014 [T/C] NM_198596,NM_001161841,NM_018837 SULF2,SULF2,SULF2 EXON Missense_E502K,Missense_E502K,Missense_E502K exm1547776 20 46301041 [T/C] NM_198596,NM_001161841,NM_018837 SULF2,SULF2,SULF2 EXON Missense_V493M,Missense_V493M,Missense_V493M exm1968047 20 46301045 [A/G] NM_198596,NM_001161841,NM_018837 SULF2,SULF2,SULF2 EXON Synonymous_N491N,Synonymous_N491N,Synonymous_N491N exm1547782 20 46301116 [T/C] NM_198596,NM_001161841,NM_018837 SULF2,SULF2,SULF2 EXON Missense_A468T,Missense_A468T,Missense_A468T exm1547785 20 46305261 [T/C] NM_198596,NM_001161841,NM_018837 SULF2,SULF2,SULF2 EXON Missense_T453A,Missense_T453A,Missense_T453A exm2234550 20 46305357 [T/G] NM_198596,NM_001161841,NM_018837 SULF2,SULF2,SULF2 EXON Missense_H421N,Missense_H421N,Missense_H421N exm2234551 20 46305367 [A/G] NM_198596,NM_001161841,NM_018837 SULF2,SULF2,SULF2 EXON Synonymous_G417G,Synonymous_G417G,Synonymous_G417G exm2254304 20 46307428 [T/C] NM_198596,NM_001161841,NM_018837 SULF2,SULF2,SULF2 EXON Synonymous_P395P,Synonymous_P395P,Synonymous_P395P exm1547789 20 46307429 [A/G] NM_198596,NM_001161841,NM_018837 SULF2,SULF2,SULF2 EXON Missense_P395L,Missense_P395L,Missense_P395L exm1547796 20 46307535 [T/C] NM_198596,NM_001161841,NM_018837 SULF2,SULF2,SULF2 EXON Missense_V360I,Missense_V360I,Missense_V360I exm1547815 20 46313221 [T/C] NM_198596,NM_001161841,NM_018837 SULF2,SULF2,SULF2 EXON Missense_R281Q,Missense_R281Q,Missense_R281Q exm1547821 20 46318883 [T/C] NM_198596,NM_001161841,NM_018837 SULF2,SULF2,SULF2 EXON Missense_A242T,Missense_A242T,Missense_A242T exm1547823 20 46318901 [A/C] NM_198596,NM_001161841,NM_018837 SULF2,SULF2,SULF2 EXON Missense_S236A,Missense_S236A,Missense_S236A exm1547825 20 46318953 [T/C] NM_198596,NM_001161841,NM_018837 SULF2,SULF2,SULF2 EXON Missense_M218I,Missense_M218I,Missense_M218I exm1547847 20 46365621 [T/C] NM_198596,NM_001161841,NM_018837 SULF2,SULF2,SULF2 EXON Missense_A81T,Missense_A81T,Missense_A81T exm1547849 20 46365636 [T/C] NM_198596,NM_001161841,NM_018837 SULF2,SULF2,SULF2 EXON Missense_A76T,Missense_A76T,Missense_A76T exm1968079 20 46365660 [A/G] NM_198596,NM_001161841,NM_018837 SULF2,SULF2,SULF2 EXON Missense_R68W,Missense_R68W,Missense_R68W exm1547855 20 46386028 [A/G] NM_198596,NM_001161841,NM_018837 SULF2,SULF2,SULF2 EXON Missense_S27L,Missense_S27L,Missense_S27L exm-rs4810685 20 46400713 [T/C] NM_198596,NM_001161841,NM_018837 SULF2,SULF2,SULF2 Silent,Silent,Silent exm-rs13038095 20 46425576 [T/G] exm2254305 20 46480524 [A/G] exm-rs11086243 20 46779235 [T/C] exm2268343 20 47004466 [A/G] exm1547886 20 47244472 [A/G] NM_020820 PREX1 EXON Missense_A1599V exm1547889 20 47245987 [T/C] NM_020820 PREX1 EXON Missense_R1589K exm1547894 20 47246069 [T/C] NM_020820 PREX1 EXON Missense_A1562T exm1547896 20 47246077 [C/G] NM_020820 PREX1 EXON Missense_S1559T exm1547897 20 47246087 [T/C] NM_020820 PREX1 EXON Missense_A1556T exm1547907 20 47247325 [T/A] NM_020820 PREX1 EXON Missense_Y1512N exm1547913 20 47248885 [A/C] NM_020820 PREX1 EXON Missense_A1486S exm1547933 20 47253033 [A/G] NM_020820 PREX1 EXON Missense_H1379Y exm1547941 20 47253122 [T/C] NM_020820 PREX1 EXON Missense_R1349H exm1547942 20 47253123 [A/G] NM_020820 PREX1 EXON Missense_R1349C exm1547944 20 47253150 [T/C] NM_020820 PREX1 EXON Missense_K1340E exm1547960 20 47256372 [T/C] NM_020820 PREX1 EXON Missense_Q1279R exm1547961 20 47256397 [A/G] NM_020820 PREX1 EXON Missense_R1271W exm1547966 20 47258754 [A/G] NM_020820 PREX1 EXON Missense_R1243W exm1547968 20 47258763 [T/C] NM_020820 PREX1 EXON Missense_V1240I exm1547970 20 47258783 [T/C] NM_020820 PREX1 EXON Missense_N1233S exm1547992 20 47262549 [T/C] NM_020820 PREX1 EXON Missense_A1118T exm1547995 20 47265913 [A/T] NM_020820 PREX1 EXON Missense_D1077V exm1548012 20 47266647 [A/C] NM_020820 PREX1 EXON Missense_C972F exm1548013 20 47266680 [A/G] NM_020820 PREX1 EXON Missense_P961L exm1968166 20 47268070 [A/G] NM_020820 PREX1 EXON Missense_P840L exm1548035 20 47268121 [T/G] NM_020820 PREX1 EXON Missense_A823D exm1548041 20 47269211 [T/C] NM_020820 PREX1 EXON Missense_D794N exm1548045 20 47269904 [T/C] NM_020820 PREX1 EXON Missense_A781T exm1548050 20 47269919 [T/C] NM_020820 PREX1 EXON Missense_S776G exm1548052 20 47269946 [T/C] NM_020820 PREX1 EXON Missense_V767I exm1548053 20 47269963 [T/C] NM_020820 PREX1 EXON Missense_N761S exm1548057 20 47271836 [A/G] NM_020820 PREX1 EXON Missense_V734A exm1548061 20 47271858 [T/C] NM_020820 PREX1 EXON Missense_A727T exm1548062 20 47271866 [T/C] NM_020820 PREX1 EXON Missense_R724H exm1548072 20 47273618 [A/G] NM_020820 PREX1 EXON Missense_R695C exm1548076 20 47273726 [T/C] NM_020820 PREX1 EXON Missense_V659M exm1548078 20 47274697 [T/C] NM_020820 PREX1 EXON Missense_V651I exm1548080 20 47274733 [T/C] NM_020820 PREX1 EXON Missense_I639V exm1548089 20 47282854 [T/C] NM_020820 PREX1 EXON Missense_V569M exm1548094 20 47292732 [T/C] NM_020820 PREX1 EXON Missense_Q555R exm2254310 20 47308798 [A/G] NM_020820 PREX1 Silent exm2268344 20 47328358 [A/G] NM_020820 PREX1 Silent exm-rs6063312 20 47343059 [T/G] NM_020820 PREX1 Silent exm1548154 20 47558417 [T/C] NM_006420 ARFGEF2 EXON Missense_P57S exm1548155 20 47558420 [T/C] NM_006420 ARFGEF2 EXON Missense_P58S exm1548158 20 47567921 [A/G] NM_006420 ARFGEF2 EXON Missense_R113Q exm1548162 20 47569311 [A/G] NM_006420 ARFGEF2 EXON Missense_T165A exm1548163 20 47570094 [T/G] NM_006420 ARFGEF2 EXON Missense_L202W exm1548165 20 47570183 [T/C] NM_006420 ARFGEF2 EXON Missense_R232C exm1548166 20 47570184 [A/G] NM_006420 ARFGEF2 EXON Missense_R232H exm1548173 20 47570259 [A/G] NM_006420 ARFGEF2 EXON Missense_R257K exm1548176 20 47570300 [C/G] NM_006420 ARFGEF2 EXON Missense_P271A exm1548198 20 47588924 [A/G] NM_006420 ARFGEF2 EXON Missense_R496K exm1548209 20 47592600 [C/G] NM_006420 ARFGEF2 EXON Missense_D608H exm1548217 20 47592666 [A/G] NM_006420 ARFGEF2 EXON Missense_V630I exm1548224 20 47601317 [A/G] NM_006420 ARFGEF2 EXON Missense_M670I exm1548228 20 47601992 [C/G] NM_006420 ARFGEF2 EXON Missense_E706D exm1548239 20 47605846 [A/G] NM_006420 ARFGEF2 EXON Missense_R853Q exm1548256 20 47611060 [C/G] NM_006420 ARFGEF2 EXON Missense_G1016R exm1548259 20 47612327 [T/G] NM_006420 ARFGEF2 EXON Missense_L1043F exm1548278 20 47621637 [A/G] NM_006420 ARFGEF2 EXON Missense_I1155V exm1548282 20 47621745 [A/G] NM_006420 ARFGEF2 EXON Missense_M1191V exm1548299 20 47628595 [A/G] NM_006420 ARFGEF2 EXON Missense_G1298S exm1968309 20 47628605 [T/C] NM_006420 ARFGEF2 EXON Missense_V1301A exm1548322 20 47634040 [T/A] NM_006420 ARFGEF2 EXON Missense_T1488S exm1548338 20 47645205 [T/C] NM_006420 ARFGEF2 EXON Missense_T1688I exm1548340 20 47648590 [T/G] NM_006420 ARFGEF2 EXON Missense_C1690G exm1548359 20 47679880 [T/G] NM_001316,NM_001256135,NR_045796 CSE1L,CSE1L,CSE1L EXON Missense_I76S,Missense_I76S,Silent exm2254312 20 47685320 [G/C] NM_001316,NM_001256135,NR_045796 CSE1L,CSE1L,CSE1L EXON Synonymous_L212L,Synonymous_L212L,Silent exm1548429 20 47707475 [G/C] NM_001316,NM_001256135,NR_045796 CSE1L,CSE1L,CSE1L EXON Missense_E761Q,Missense_E705Q,Silent exm1548432 20 47707539 [A/G] NM_001316,NM_001256135,NR_045796 CSE1L,CSE1L,CSE1L EXON Missense_K782R,Missense_K726R,Silent exm1548467 20 47734885 [T/C] NM_017454,NM_017452,NM_004602,NM_017453,NM_001037328 STAU1,STAU1,STAU1,STAU1,STAU1 EXON Missense_D311N,Missense_D311N,Missense_D311N,Missense_D392N,Missense_D317N exm1548473 20 47736608 [A/G] NM_017454,NM_017452,NM_004602,NM_017453,NM_001037328 STAU1,STAU1,STAU1,STAU1,STAU1 EXON Missense_R261C,Missense_R261C,Missense_R261C,Missense_R342C,Missense_R267C exm1548481 20 47740944 [T/C] NM_017454,NM_017452,NM_004602,NM_017453,NM_001037328 STAU1,STAU1,STAU1,STAU1,STAU1 EXON Missense_R183G,Missense_R183G,Missense_R183G,Missense_R264G,Missense_R189G exm1548492 20 47768135 [A/G] NM_017454,NM_017452,NM_004602,NM_017453,NM_001037328 STAU1,STAU1,STAU1,STAU1,STAU1 EXON Missense_L84P,Missense_L84P,Missense_L84P,Missense_L165P,Missense_L84P exm-IND20-47208881 20 47775475 [D/I] NM_017454,NM_017452,NM_004602,NM_017453,NM_001037328 STAU1,STAU1,STAU1,STAU1,STAU1 exm1548510 20 47782687 [T/G] NM_017454,NM_017452,NM_004602,NM_017453,NM_001037328 STAU1,STAU1,STAU1,STAU1,STAU1 EXON Silent,Silent,Silent,Missense_S18R,Silent exm1548531 20 47838020 [T/C] NM_017895 DDX27 EXON Missense_A73V exm1548547 20 47839969 [A/G] NM_017895 DDX27 EXON Synonymous_A186A exm1548554 20 47841503 [A/G] NM_017895 DDX27 EXON Missense_R194Q exm1548556 20 47841650 [A/G] NM_017895 DDX27 EXON Missense_E203K exm1548558 20 47841660 [T/G] NM_017895 DDX27 EXON Missense_G206V exm1548569 20 47845306 [A/G] NM_017895 DDX27 EXON Missense_R285H exm1548570 20 47845311 [A/G] NM_017895 DDX27 EXON Missense_A287T exm1548574 20 47845345 [T/C] NM_017895 DDX27 EXON Missense_T298I exm2254313 20 47846857 [T/C] NM_017895 DDX27 EXON Synonymous_I365I exm1548587 20 47850111 [T/G] NM_017895 DDX27 EXON Missense_D411Y exm1548588 20 47850121 [T/C] NM_017895 DDX27 EXON Missense_S414F exm-rs238148 20 47850182 [T/C] NM_017895 DDX27 EXON Synonymous_F434F exm1548598 20 47851538 [A/G] NM_017895 DDX27 EXON Missense_R478H exm1968479 20 47852688 [T/C] NM_017895 DDX27 EXON Missense_R508C exm1548621 20 47855830 [A/G] NM_017895 DDX27 EXON Missense_E649K exm1548629 20 47858695 [A/G] NM_017895 DDX27 EXON Missense_A721T exm1548632 20 47858702 [A/G] NM_017895 DDX27 EXON Missense_R723Q exm1548638 20 47859217 [A/G] NM_017895 DDX27 EXON Missense_G766S exm1548641 20 47860212 [T/C] NM_017895 DDX27 EXON Nonsense_R782X exm1968505 20 47863958 [A/G] NM_021035 ZNFX1 EXON Missense_T1868M exm1548658 20 47864146 [A/C] NM_021035 ZNFX1 EXON Missense_D1805E exm1548664 20 47864382 [G/C] NM_021035 ZNFX1 EXON Missense_E1727Q exm1548666 20 47864456 [A/G] NM_021035 ZNFX1 EXON Missense_V1702A exm1548670 20 47864640 [T/C] NM_021035 ZNFX1 EXON Missense_E1641K exm1548671 20 47864645 [T/C] NM_021035 ZNFX1 EXON Missense_R1639Q exm1548674 20 47864681 [T/C] NM_021035 ZNFX1 EXON Missense_R1627H exm1968515 20 47864757 [A/G] NM_021035 ZNFX1 EXON Missense_R1602C exm1548678 20 47864811 [A/G] NM_021035 ZNFX1 EXON Missense_R1584C exm1548686 20 47864985 [T/G] NM_021035 ZNFX1 EXON Missense_L1526I exm1548691 20 47865098 [T/C] NM_021035 ZNFX1 EXON Missense_R1488Q exm1548703 20 47865306 [T/C] NM_021035 ZNFX1 EXON Missense_V1419M exm1548714 20 47865468 [T/C] NM_021035 ZNFX1 EXON Missense_V1365M exm1548717 20 47865500 [T/C] NM_021035 ZNFX1 EXON Missense_R1354Q exm1548718 20 47865509 [A/G] NM_021035 ZNFX1 EXON Missense_T1351I exm1548723 20 47865672 [T/C] NM_021035 ZNFX1 EXON Missense_G1297S exm1548728 20 47865784 [T/C] NM_021035 ZNFX1 EXON Missense_M1259I exm1548742 20 47865924 [T/C] NM_021035 ZNFX1 EXON Missense_I1213V exm1548748 20 47866026 [T/C] NM_021035 ZNFX1 EXON Missense_V1179I exm1548750 20 47866059 [A/G] NM_021035 ZNFX1 EXON Missense_R1168C exm1548753 20 47866148 [A/C] NM_021035 ZNFX1 EXON Missense_V1138G exm1548757 20 47868064 [T/C] NM_021035 ZNFX1 EXON Synonymous_K1104K exm1548766 20 47871053 [T/C] NM_021035 ZNFX1 EXON Missense_V980I exm2275155 20 47872421 [T/C] NM_021035 ZNFX1 EXON Missense_T910A exm1548779 20 47872441 [A/T] NM_021035 ZNFX1 EXON Missense_D903V exm1548781 20 47872477 [T/C] NM_021035 ZNFX1 EXON Missense_R891H exm1548789 20 47874052 [T/C] NM_021035 ZNFX1 EXON Missense_A856T exm1548790 20 47874063 [T/C] NM_021035 ZNFX1 EXON Missense_E852G exm1548795 20 47874121 [G/C] NM_021035 ZNFX1 EXON Missense_Q833E exm1548799 20 47877011 [T/G] NM_021035 ZNFX1 EXON Missense_P802H exm1968547 20 47877041 [A/G] NM_021035 ZNFX1 EXON Missense_S792F exm1968551 20 47879931 [A/C] NM_021035 ZNFX1 EXON Missense_Q747H exm1548823 20 47886601 [T/C] NM_021035 ZNFX1 EXON Missense_N583S exm1968559 20 47886611 [T/G] NM_021035 ZNFX1 EXON Missense_P580T exm1548824 20 47886638 [G/C] NM_021035 ZNFX1 EXON Missense_L571V exm1548826 20 47886696 [G/C] NM_021035 ZNFX1 EXON Missense_M551I exm1548833 20 47886878 [C/G] NM_021035 ZNFX1 EXON Missense_Q491E exm1548838 20 47887009 [T/C] NM_021035 ZNFX1 EXON Missense_R447Q exm1548846 20 47887168 [T/C] NM_021035 ZNFX1 EXON Missense_S394N exm1548848 20 47887250 [T/C] NM_021035 ZNFX1 EXON Missense_I367V exm1548860 20 47887603 [T/G] NM_021035 ZNFX1 EXON Missense_S249Y exm1548867 20 47887812 [T/C] NM_021035 ZNFX1 EXON Missense_M179I exm1548869 20 47887853 [T/C] NM_021035 ZNFX1 EXON Missense_T166A exm1548870 20 47887897 [T/C] NM_021035 ZNFX1 EXON Missense_S151N exm1548873 20 47887966 [T/C] NM_021035 ZNFX1 EXON Missense_R128Q exm1548875 20 47888012 [T/C] NM_021035 ZNFX1 EXON Missense_R113G exm1548881 20 47888096 [T/C] NM_021035 ZNFX1 EXON Missense_E85K exm1548884 20 47888227 [T/C] NM_021035 ZNFX1 EXON Missense_N41S exm-rs237743 20 47903019 [A/G] NR_003605,NR_003604,NR_003606,NR_036658,NR_036659 ZFAS1,ZFAS1,ZFAS1,ZFAS1,ZFAS1 Silent,Silent,Silent,Silent,Silent exm1548901 20 47989527 [T/C] NM_004975 KCNB1 EXON Missense_S857N exm1548904 20 47989624 [A/G] NM_004975 KCNB1 EXON Missense_P825S exm1548920 20 47990100 [A/G] NM_004975 KCNB1 EXON Missense_P666L exm2234573 20 47990217 [T/C] NM_004975 KCNB1 EXON Missense_R627Q exm1548923 20 47990235 [A/G] NM_004975 KCNB1 EXON Missense_A621V exm1548924 20 47990236 [A/C] NM_004975 KCNB1 EXON Missense_A621S exm1548926 20 47990250 [G/C] NM_004975 KCNB1 EXON Missense_T616S exm1548927 20 47990260 [A/G] NM_004975 KCNB1 EXON Missense_P613S exm1548935 20 47990521 [T/C] NM_004975 KCNB1 EXON Missense_V526I exm1548938 20 47990618 [C/G] NM_004975 KCNB1 EXON Missense_R493S exm2268305 20 48011008 [A/G] NM_004975 KCNB1 Silent exm1548979 20 48124462 [A/G] NM_000961 PTGIS EXON Missense_P500S exm1548983 20 48124476 [T/C] NM_000961 PTGIS EXON Missense_R495H exm1548987 20 48124516 [T/C] NM_000961 PTGIS EXON Missense_G482S exm1548989 20 48124555 [T/C] NM_000961 PTGIS EXON Missense_A469T exm1548992 20 48124582 [T/C] NM_000961 PTGIS EXON Missense_V460M exm1549000 20 48129617 [T/C] NM_000961 PTGIS EXON Synonymous_E402E exm1549008 20 48129773 [A/C] NM_000961 PTGIS EXON Missense_R350S exm1549009 20 48129793 [T/C] NM_000961 PTGIS EXON Missense_V344M exm1968603 20 48130808 [A/G] NM_000961 PTGIS EXON Missense_T327M exm1549022 20 48140626 [T/C] NM_000961 PTGIS EXON Missense_R275Q exm1549023 20 48140627 [A/G] NM_000961 PTGIS EXON Missense_R275W exm1968608 20 48140635 [A/G] NM_000961 PTGIS EXON Missense_M272T exm1549027 20 48140696 [A/G] NM_000961 PTGIS EXON Missense_R252W exm2275156 20 48140705 [A/G] NM_000961 PTGIS EXON Missense_R249W exm1549031 20 48140725 [A/G] NM_000961 PTGIS EXON Missense_S242F exm1549034 20 48140744 [A/G] NM_000961 PTGIS EXON Missense_R236C exm1549036 20 48140765 [C/G] NM_000961 PTGIS EXON Missense_H229D exm1549043 20 48156125 [A/G] NM_000961 PTGIS EXON Missense_R219C exm1549048 20 48156149 [T/C] NM_000961 PTGIS EXON Missense_D211N exm1549050 20 48156157 [T/C] NM_000961 PTGIS EXON Missense_R208H exm1549053 20 48156191 [A/G] NM_000961 PTGIS EXON Missense_R197C exm1549057 20 48156236 [T/C] NM_000961 PTGIS EXON Missense_G182R exm1549066 20 48164483 [T/C] NM_000961 PTGIS EXON Missense_R91H exm1549067 20 48164484 [A/G] NM_000961 PTGIS EXON Missense_R91C exm1549075 20 48166617 [T/C] NM_000961 PTGIS EXON Missense_G62S exm1549079 20 48166724 [T/C] NM_000961 PTGIS EXON Missense_R26Q exm1549080 20 48166725 [T/G] NM_000961 PTGIS EXON Synonymous_R26R exm1549091 20 48252914 [T/C] NM_004776 B4GALT5 EXON Missense_D368N exm1549094 20 48252929 [G/C] NM_004776 B4GALT5 EXON Missense_A363P exm1549113 20 48260157 [A/G] NM_004776 B4GALT5 EXON Missense_I132T exm1549114 20 48260179 [T/C] NM_004776 B4GALT5 EXON Missense_I125V exm1549118 20 48263555 [T/C] NM_004776 B4GALT5 EXON Missense_E104G exm1549123 20 48273174 [T/C] NM_004776 B4GALT5 EXON Missense_G61S exm1968653 20 48273186 [T/C] NM_004776 B4GALT5 EXON Missense_V57M exm1549124 20 48273202 [A/C] NM_004776 B4GALT5 EXON Missense_I51M exm-rs6512586 20 48301146 [A/G] NM_004776 B4GALT5 Silent exm1549128 20 48330197 [G/C] NM_004776 B4GALT5 EXON Missense_P11A exm2264714 20 48383467 [A/C] exm1549133 20 48429485 [A/C] NM_001260491,NR_048538,NR_048540,NR_048539,NR_048537,NM_015266 SLC9A8,SLC9A8,SLC9A8,SLC9A8,SLC9A8,SLC9A8 EXON Missense_E9A,Silent,Silent,Silent,Silent,Missense_E9A exm1549137 20 48431556 [A/G] NM_001260491,NR_048538,NR_048540,NR_048539,NR_048537,NM_015266 SLC9A8,SLC9A8,SLC9A8,SLC9A8,SLC9A8,SLC9A8 EXON Missense_N13S,Silent,Silent,Silent,Silent,Missense_N13S exm2234577 20 48431693 [A/G] NM_001260491,NR_048538,NR_048540,NR_048539,NR_048537,NM_015266 SLC9A8,SLC9A8,SLC9A8,SLC9A8,SLC9A8,SLC9A8 EXON Missense_G59S,Silent,Silent,Silent,Silent,Missense_G59S exm1549146 20 48456126 [T/C] NM_001260491,NR_048538,NR_048540,NR_048539,NR_048537,NM_015266 SLC9A8,SLC9A8,SLC9A8,SLC9A8,SLC9A8,SLC9A8 EXON Missense_A113V,Silent,Silent,Silent,Silent,Missense_A113V exm1549151 20 48466173 [A/G] NM_001260491,NR_048538,NR_048540,NR_048539,NR_048537,NM_015266 SLC9A8,SLC9A8,SLC9A8,SLC9A8,SLC9A8,SLC9A8 EXON Missense_I164V,Silent,Silent,Silent,Silent,Missense_I164V exm1549155 20 48471975 [T/C] NM_001260491,NR_048538,NR_048540,NR_048539,NR_048537,NM_015266 SLC9A8,SLC9A8,SLC9A8,SLC9A8,SLC9A8,SLC9A8 EXON Synonymous_S206S,Silent,Silent,Silent,Silent,Synonymous_S190S exm1549158 20 48472034 [A/G] NM_001260491,NR_048538,NR_048540,NR_048539,NR_048537,NM_015266 SLC9A8,SLC9A8,SLC9A8,SLC9A8,SLC9A8,SLC9A8 EXON Missense_N226S,Silent,Silent,Silent,Silent,Missense_N210S exm2254315 20 48481278 [A/G] NM_001260491,NR_048538,NR_048540,NR_048539,NR_048537,NM_015266 SLC9A8,SLC9A8,SLC9A8,SLC9A8,SLC9A8,SLC9A8 EXON Synonymous_V301V,Silent,Silent,Silent,Silent,Synonymous_V285V exm1549170 20 48481304 [T/C] NM_001260491,NR_048538,NR_048540,NR_048539,NR_048537,NM_015266 SLC9A8,SLC9A8,SLC9A8,SLC9A8,SLC9A8,SLC9A8 EXON Missense_T310M,Silent,Silent,Silent,Silent,Missense_T294M exm1549178 20 48494572 [T/C] NM_001260491,NR_048538,NR_048540,NR_048539,NR_048537,NM_015266 SLC9A8,SLC9A8,SLC9A8,SLC9A8,SLC9A8,SLC9A8 EXON Missense_F393S,Silent,Silent,Silent,Silent,Missense_F377S exm1549182 20 48497473 [T/G] NM_001260491,NR_048538,NR_048540,NR_048539,NR_048537,NM_015266 SLC9A8,SLC9A8,SLC9A8,SLC9A8,SLC9A8,SLC9A8 EXON Missense_F407V,Silent,Silent,Silent,Silent,Missense_F391V exm1549188 20 48500436 [A/G] NM_001260491,NR_048538,NR_048540,NR_048539,NR_048537,NM_015266 SLC9A8,SLC9A8,SLC9A8,SLC9A8,SLC9A8,SLC9A8 EXON Missense_M458V,Silent,Silent,Silent,Silent,Missense_M442V exm1549197 20 48500560 [A/G] NM_001260491,NR_048538,NR_048540,NR_048539,NR_048537,NM_015266 SLC9A8,SLC9A8,SLC9A8,SLC9A8,SLC9A8,SLC9A8 EXON Missense_R499H,Silent,Silent,Silent,Silent,Missense_R483H exm1549198 20 48500567 [A/C] NM_001260491,NR_048538,NR_048540,NR_048539,NR_048537,NM_015266 SLC9A8,SLC9A8,SLC9A8,SLC9A8,SLC9A8,SLC9A8 EXON Missense_N501K,Silent,Silent,Silent,Silent,Missense_N485K exm1549223 20 48522167 [T/C] NM_006038,NM_001135773 SPATA2,SPATA2 EXON Missense_V518M,Missense_V518M exm1549233 20 48522355 [A/G] NM_006038,NM_001135773 SPATA2,SPATA2 EXON Missense_T455M,Missense_T455M exm1549242 20 48522431 [A/G] NM_006038,NM_001135773 SPATA2,SPATA2 EXON Missense_R430W,Missense_R430W exm1549246 20 48522530 [A/G] NM_006038,NM_001135773 SPATA2,SPATA2 EXON Missense_R397C,Missense_R397C exm1549254 20 48522625 [T/C] NM_006038,NM_001135773 SPATA2,SPATA2 EXON Missense_H365R,Missense_H365R exm1549257 20 48522655 [A/G] NM_006038,NM_001135773 SPATA2,SPATA2 EXON Missense_P355L,Missense_P355L exm1549258 20 48522659 [A/G] NM_006038,NM_001135773 SPATA2,SPATA2 EXON Missense_R354W,Missense_R354W exm1549274 20 48522859 [A/G] NM_006038,NM_001135773 SPATA2,SPATA2 EXON Missense_L287P,Missense_L287P exm1968732 20 48523085 [A/G] NM_006038,NM_001135773 SPATA2,SPATA2 EXON Missense_R212W,Missense_R212W exm1549302 20 48524781 [A/G] NM_006038,NM_001135773 SPATA2,SPATA2 EXON Missense_R83W,Missense_R83W exm1549312 20 48524979 [A/G] NM_006038,NM_001135773 SPATA2,SPATA2 EXON Missense_R17W,Missense_R17W exm1549313 20 48525003 [T/A] NM_006038,NM_001135773 SPATA2,SPATA2 EXON Missense_T9S,Missense_T9S exm-rs2235617 20 48554977 [C/G] NM_018683 RNF114 Silent exm1549328 20 48558184 [A/G] NM_018683 RNF114 EXON Missense_R76Q exm1549341 20 48561952 [A/T] NM_018683 RNF114 EXON Missense_T109S exm2234580 20 48562714 [T/C] NM_018683 RNF114 EXON Missense_P147L exm1549349 20 48565831 [A/G] NM_018683 RNF114 EXON Missense_R187H exm1549355 20 48568644 [A/T] NM_018683 RNF114 EXON Missense_N218I exm2234581 20 48568656 [A/G] NM_018683 RNF114 EXON Missense_Q222R exm1549376 20 48600631 [T/C] NM_005985 SNAI1 EXON Missense_V118A exm1549386 20 48604570 [A/G] NM_005985 SNAI1 EXON Missense_G258S exm1549387 20 48604588 [T/C] NM_005985 SNAI1 EXON Missense_R264C exm1549418 20 48732109 [A/G] NM_001257394,NM_199203,NM_001257393,NR_047553,NM_021988,NM_199144,NM_022442 UBE2V1,TMEM189-UBE2V1,UBE2V1,UBE2V1,UBE2V1,UBE2V1,UBE2V1 EXON Silent,Silent,Missense_P2S,Silent,Missense_P2S,Missense_P2S,Silent exm2273581 20 48741545 [T/C] NM_199203,NM_001162505,NR_027889,NM_199129 TMEM189-UBE2V1,TMEM189,TMEM189,TMEM189 EXON Silent,Silent,Silent,Silent exm1549429 20 48741647 [A/G] NM_199203,NM_001162505,NR_027889,NM_199129 TMEM189-UBE2V1,TMEM189,TMEM189,TMEM189 EXON Silent,Missense_T251M,Silent,Missense_T254M exm1549431 20 48741674 [T/C] NM_199203,NM_001162505,NR_027889,NM_199129 TMEM189-UBE2V1,TMEM189,TMEM189,TMEM189 EXON Silent,Missense_R242H,Silent,Missense_R245H exm1549443 20 48744668 [T/C] NM_199203,NM_001162505,NR_027889,NM_199129 TMEM189-UBE2V1,TMEM189,TMEM189,TMEM189 EXON Missense_G179S,Missense_G176S,Silent,Missense_G179S exm1549456 20 48747461 [A/G] NM_199203,NM_001162505,NR_027889,NM_199129 TMEM189-UBE2V1,TMEM189,TMEM189,TMEM189 EXON Missense_F89L,Missense_F89L,Silent,Missense_F89L exm1549461 20 48760054 [T/C] NM_199203,NM_001162505,NR_027889,NM_199129 TMEM189-UBE2V1,TMEM189,TMEM189,TMEM189 EXON Missense_V76I,Missense_V76I,Silent,Missense_V76I exm1549464 20 48760108 [T/C] NM_199203,NM_001162505,NR_027889,NM_199129 TMEM189-UBE2V1,TMEM189,TMEM189,TMEM189 EXON Missense_A58T,Missense_A58T,Silent,Missense_A58T exm2268307 20 48795413 [A/G] exm1549480 20 48807695 [T/G] NM_005194 CEBPB EXON Missense_G42V exm1549491 20 48808350 [C/G] NM_005194 CEBPB EXON Missense_K260N exm1549515 20 49127119 [A/G] NM_002827 PTPN1 EXON Missense_I19V exm1549524 20 49191191 [A/G] NM_002827 PTPN1 EXON Synonymous_T164T exm1549526 20 49194958 [T/C] NM_002827 PTPN1 EXON Missense_T165I exm2254318 20 49196284 [T/C] NM_002827 PTPN1 EXON Synonymous_P303P exm1549543 20 49196285 [A/G] NM_002827 PTPN1 EXON Missense_E304K exm2234584 20 49196306 [T/C] NM_002827 PTPN1 EXON Missense_R311W exm1549550 20 49197836 [A/G] NM_002827 PTPN1 EXON Missense_V375M exm1549552 20 49197845 [A/C] NM_002827 PTPN1 EXON Missense_S378R exm1549553 20 49197854 [A/G] NM_002827 PTPN1 EXON Missense_G381S exm1549555 20 49197858 [A/C] NM_002827 PTPN1 EXON Missense_A382D exm1549556 20 49197873 [T/C] NM_002827 PTPN1 EXON Missense_P387L exm1968869 20 49203789 [T/C] NM_080829 FAM65C EXON Missense_V941I exm1549578 20 49203868 [A/G] NM_080829 FAM65C EXON Synonymous_G914G exm2254319 20 49204367 [T/C] NM_080829 FAM65C EXON Synonymous_A904A exm1549584 20 49204414 [T/C] NM_080829 FAM65C EXON Missense_D889N exm1968877 20 49206267 [T/C] NM_080829 FAM65C EXON Missense_A869T exm1549595 20 49208975 [T/C] NM_080829 FAM65C EXON Nonsense_W824X exm1549599 20 49209018 [A/G] NM_080829 FAM65C EXON Missense_R810W exm1549602 20 49209056 [A/G] NM_080829 FAM65C EXON Missense_A797V exm1549603 20 49209587 [A/G] NM_080829 FAM65C EXON Nonsense_Q783X exm1549609 20 49209710 [T/C] NM_080829 FAM65C EXON Missense_V742M exm1549611 20 49209732 [T/C] NM_080829 FAM65C EXON Synonymous_A734A exm1549614 20 49211161 [A/G] NM_080829 FAM65C EXON Missense_T710M exm1549619 20 49211230 [A/G] NM_080829 FAM65C EXON Missense_T687M exm1549624 20 49211969 [T/C] NM_080829 FAM65C EXON Missense_V659I exm1549636 20 49212798 [T/A] NM_080829 FAM65C EXON Missense_K594M exm1549641 20 49214156 [A/G] NM_080829 FAM65C EXON Missense_L580P exm1549643 20 49214166 [T/C] NM_080829 FAM65C EXON Missense_D577N exm1549646 20 49214198 [G/C] NM_080829 FAM65C EXON Missense_C566S exm1549648 20 49214214 [T/C] NM_080829 FAM65C EXON Missense_E561K exm2234587 20 49214234 [T/C] NM_080829 FAM65C EXON Missense_R554Q exm2234588 20 49218734 [T/C] NM_080829 FAM65C EXON Missense_G508R exm1968905 20 49218749 [T/C] NM_080829 FAM65C EXON Missense_G503R exm1549666 20 49218784 [A/G] NM_080829 FAM65C EXON Missense_S491L exm1549680 20 49219011 [C/G] NM_080829 FAM65C EXON Missense_E415D exm1549683 20 49219097 [T/C] NM_080829 FAM65C EXON Missense_D387N exm1549695 20 49221198 [T/C] NM_080829 FAM65C EXON Missense_R353Q exm1549699 20 49221216 [A/G] NM_080829 FAM65C EXON Missense_P347L exm1549701 20 49221255 [A/G] NM_080829 FAM65C EXON Missense_M334T exm1968912 20 49221270 [A/G] NM_080829 FAM65C EXON Missense_T329M exm1549703 20 49221303 [T/C] NM_080829 FAM65C EXON Missense_D318G exm1549707 20 49224962 [A/C] NM_080829 FAM65C EXON Missense_L303W exm1549725 20 49225233 [A/G] NM_080829 FAM65C EXON Missense_R239W exm1549736 20 49225887 [A/C] NM_080829 FAM65C EXON Missense_W191G exm1549737 20 49225893 [T/C] NM_080829 FAM65C EXON Missense_D189N exm1968933 20 49227439 [A/G] NM_080829 FAM65C EXON Missense_T122M exm1549764 20 49232539 [A/C] NM_080829 FAM65C EXON Synonymous_L112L exm1549781 20 49236604 [A/G] NM_080829 FAM65C EXON Missense_T59M exm1549789 20 49247330 [T/C] NM_080829 FAM65C EXON Missense_V19M exm1549790 20 49247335 [T/C] NM_080829 FAM65C EXON Missense_G17E exm1549791 20 49247339 [T/C] NM_080829 FAM65C EXON Missense_V16M exm1549800 20 49354499 [A/G] NM_032521 PARD6B EXON Missense_V58I exm1549802 20 49354598 [A/G] NM_032521 PARD6B EXON Missense_I91V exm1549804 20 49366229 [T/C] NM_032521 PARD6B EXON Missense_T108M exm1549813 20 49366624 [T/C] NM_032521 PARD6B EXON Missense_R240C exm1549818 20 49366685 [A/G] NM_032521 PARD6B EXON Missense_R260Q exm1549821 20 49366743 [T/G] NM_032521 PARD6B EXON Missense_Q279H exm1549832 20 49366954 [A/G] NM_032521 PARD6B EXON Missense_N350D exm2272903 20 49382148 [T/C] exm1549852 20 49446883 [T/C] NM_001010974,NM_198799,NM_017843 BCAS4,BCAS4,BCAS4 EXON Missense_M107T,Missense_M107T,Missense_M107T exm1549853 20 49446886 [A/G] NM_001010974,NM_198799,NM_017843 BCAS4,BCAS4,BCAS4 EXON Missense_R108H,Missense_R108H,Missense_R108H exm1549862 20 49458427 [A/C] NM_001010974,NM_198799,NM_017843 BCAS4,BCAS4,BCAS4 EXON Silent,Missense_S160Y,Missense_S160Y exm1549869 20 49493023 [A/C] NM_001010974,NM_198799,NM_017843 BCAS4,BCAS4,BCAS4 EXON Missense_K119Q,Missense_K164Q,Missense_E196A exm1549872 20 49493048 [T/C] NM_001010974,NM_198799,NM_017843 BCAS4,BCAS4,BCAS4 EXON Missense_T127M,Missense_T172M,Synonymous_D204D exm1549873 20 49493052 [T/C] NM_001010974,NM_198799,NM_017843 BCAS4,BCAS4,BCAS4 EXON Synonymous_Y128Y,Synonymous_Y173Y,Nonsense_R206X exm1549874 20 49493075 [T/C] NM_001010974,NM_198799,NM_017843 BCAS4,BCAS4,BCAS4 EXON Missense_T136M,Missense_T181M,Silent exm1549879 20 49493128 [T/C] NM_001010974,NM_198799,NM_017843 BCAS4,BCAS4,BCAS4 EXON Missense_C154R,Missense_C199R,Silent exm1549881 20 49493135 [A/G] NM_001010974,NM_198799,NM_017843 BCAS4,BCAS4,BCAS4 EXON Missense_R156Q,Missense_R201Q,Silent exm1549894 20 49508193 [C/G] NM_181442,NM_015339 ADNP,ADNP EXON Missense_Q1020E,Missense_Q1020E exm1549901 20 49508329 [T/A] NM_181442,NM_015339 ADNP,ADNP EXON Missense_S974R,Missense_S974R exm1549905 20 49508415 [T/C] NM_181442,NM_015339 ADNP,ADNP EXON Missense_T946A,Missense_T946A exm2275157 20 49508436 [T/G] NM_181442,NM_015339 ADNP,ADNP EXON Missense_I939L,Missense_I939L exm1968970 20 49508469 [G/C] NM_181442,NM_015339 ADNP,ADNP EXON Missense_D928H,Missense_D928H exm1549909 20 49508479 [G/C] NM_181442,NM_015339 ADNP,ADNP EXON Missense_E924D,Missense_E924D exm1549910 20 49508502 [A/G] NM_181442,NM_015339 ADNP,ADNP EXON Missense_P917S,Missense_P917S exm1549912 20 49508508 [T/C] NM_181442,NM_015339 ADNP,ADNP EXON Missense_V915I,Missense_V915I exm1549917 20 49508585 [G/C] NM_181442,NM_015339 ADNP,ADNP EXON Missense_S889T,Missense_S889T exm1549930 20 49508934 [T/C] NM_181442,NM_015339 ADNP,ADNP EXON Missense_K773E,Missense_K773E exm1549954 20 49509497 [T/C] NM_181442,NM_015339 ADNP,ADNP EXON Missense_N585S,Missense_N585S exm1549982 20 49510176 [T/C] NM_181442,NM_015339 ADNP,ADNP EXON Missense_I359V,Missense_I359V exm1549987 20 49510212 [T/C] NM_181442,NM_015339 ADNP,ADNP EXON Missense_M347V,Missense_M347V exm1550001 20 49510716 [T/C] NM_181442,NM_015339 ADNP,ADNP EXON Missense_I179V,Missense_I179V exm1550003 20 49510790 [A/G] NM_181442,NM_015339 ADNP,ADNP EXON Missense_P154L,Missense_P154L exm1550006 20 49510895 [T/C] NM_181442,NM_015339 ADNP,ADNP EXON Missense_K119R,Missense_K119R exm2268345 20 49543293 [A/G] NM_181442,NM_015339 ADNP,ADNP Silent,Silent exm1550015 20 49551673 [A/G] NM_003859 DPM1 EXON Missense_T260I exm1550044 20 49575021 [A/G] NM_003859 DPM1 EXON Missense_R14W exm1969004 20 49575039 [A/G] NM_003859 DPM1 EXON Missense_R8C exm1550047 20 49575042 [T/C] NM_003859 DPM1 EXON Missense_S7G exm1550060 20 49575473 [G/C] NM_014484 MOCS3 EXON Missense_L32V exm1550076 20 49575869 [A/G] NM_014484 MOCS3 EXON Missense_A164T exm1550077 20 49575873 [C/G] NM_014484 MOCS3 EXON Missense_T165S exm1550099 20 49576389 [C/G] NM_014484 MOCS3 EXON Missense_S337C exm1550105 20 49576507 [A/C] NM_014484 MOCS3 EXON Missense_K376N exm1550111 20 49576620 [T/C] NM_014484 MOCS3 EXON Missense_L414P exm1550114 20 49576664 [T/G] NM_014484 MOCS3 EXON Missense_S429A exm1550115 20 49576685 [A/C] NM_014484 MOCS3 EXON Missense_P436T exm-rs6067640 20 49709374 [A/G] exm2254323 20 49989435 [A/G] exm2260950 20 50040870 [A/G] NM_001258294,NM_173091,NM_012340,NM_001258292,NM_001258297,NM_001258295,NM_001258296,NM_001136021 NFATC2,NFATC2,NFATC2,NFATC2,NFATC2,NFATC2,NFATC2,NFATC2 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm2234593 20 50048687 [A/G] NM_001258294,NM_173091,NM_012340,NM_001258292,NM_001258297,NM_001258295,NM_001258296,NM_001136021 NFATC2,NFATC2,NFATC2,NFATC2,NFATC2,NFATC2,NFATC2,NFATC2 EXON Missense_P661L,Missense_P880L,Missense_P880L,Missense_P860L,Missense_P661L,Missense_P661L,Missense_P661L,Missense_P860L exm1550192 20 50048783 [A/G] NM_001258294,NM_173091,NM_012340,NM_001258292,NM_001258297,NM_001258295,NM_001258296,NM_001136021 NFATC2,NFATC2,NFATC2,NFATC2,NFATC2,NFATC2,NFATC2,NFATC2 EXON Missense_P629L,Missense_P848L,Missense_P848L,Missense_P828L,Missense_P629L,Missense_P629L,Missense_P629L,Missense_P828L exm1550195 20 50048814 [G/C] NM_001258294,NM_173091,NM_012340,NM_001258292,NM_001258297,NM_001258295,NM_001258296,NM_001136021 NFATC2,NFATC2,NFATC2,NFATC2,NFATC2,NFATC2,NFATC2,NFATC2 EXON Missense_A619P,Missense_A838P,Missense_A838P,Missense_A818P,Missense_A619P,Missense_A619P,Missense_A619P,Missense_A818P exm1550199 20 50048830 [T/C] NM_001258294,NM_173091,NM_012340,NM_001258292,NM_001258297,NM_001258295,NM_001258296,NM_001136021 NFATC2,NFATC2,NFATC2,NFATC2,NFATC2,NFATC2,NFATC2,NFATC2 EXON Missense_M613I,Missense_M832I,Missense_M832I,Missense_M812I,Missense_M613I,Missense_M613I,Missense_M613I,Missense_M812I exm1550201 20 50048865 [A/G] NM_001258294,NM_173091,NM_012340,NM_001258292,NM_001258297,NM_001258295,NM_001258296,NM_001136021 NFATC2,NFATC2,NFATC2,NFATC2,NFATC2,NFATC2,NFATC2,NFATC2 EXON Missense_R602C,Missense_R821C,Missense_R821C,Missense_R801C,Missense_R602C,Missense_R602C,Missense_R602C,Missense_R801C exm1550237 20 50052268 [A/G] NM_001258294,NM_173091,NM_012340,NM_001258292,NM_001258297,NM_001258295,NM_001258296,NM_001136021 NFATC2,NFATC2,NFATC2,NFATC2,NFATC2,NFATC2,NFATC2,NFATC2 EXON Missense_T408M,Missense_T627M,Missense_T627M,Missense_T607M,Missense_T408M,Missense_T408M,Missense_T408M,Missense_T607M exm1550241 20 50071138 [A/G] NM_001258294,NM_173091,NM_012340,NM_001258292,NM_001258297,NM_001258295,NM_001258296,NM_001136021 NFATC2,NFATC2,NFATC2,NFATC2,NFATC2,NFATC2,NFATC2,NFATC2 EXON Missense_T380M,Missense_T599M,Missense_T599M,Missense_T579M,Missense_T380M,Missense_T380M,Missense_T380M,Missense_T579M exm1550245 20 50071198 [A/G] NM_001258294,NM_173091,NM_012340,NM_001258292,NM_001258297,NM_001258295,NM_001258296,NM_001136021 NFATC2,NFATC2,NFATC2,NFATC2,NFATC2,NFATC2,NFATC2,NFATC2 EXON Missense_M360T,Missense_M579T,Missense_M579T,Missense_M559T,Missense_M360T,Missense_M360T,Missense_M360T,Missense_M559T exm2234595 20 50092054 [T/C] NM_001258294,NM_173091,NM_012340,NM_001258292,NM_001258297,NM_001258295,NM_001258296,NM_001136021 NFATC2,NFATC2,NFATC2,NFATC2,NFATC2,NFATC2,NFATC2,NFATC2 EXON Missense_I273M,Missense_I492M,Missense_I492M,Missense_I472M,Missense_I273M,Missense_I273M,Missense_I273M,Missense_I472M exm1969061 20 50092077 [T/A] NM_001258294,NM_173091,NM_012340,NM_001258292,NM_001258297,NM_001258295,NM_001258296,NM_001136021 NFATC2,NFATC2,NFATC2,NFATC2,NFATC2,NFATC2,NFATC2,NFATC2 EXON Missense_T266S,Missense_T485S,Missense_T485S,Missense_T465S,Missense_T266S,Missense_T266S,Missense_T266S,Missense_T465S exm1550266 20 50092185 [T/C] NM_001258294,NM_173091,NM_012340,NM_001258292,NM_001258297,NM_001258295,NM_001258296,NM_001136021 NFATC2,NFATC2,NFATC2,NFATC2,NFATC2,NFATC2,NFATC2,NFATC2 EXON Missense_M230V,Missense_M449V,Missense_M449V,Missense_M429V,Missense_M230V,Missense_M230V,Missense_M230V,Missense_M429V exm1550267 20 50092193 [T/C] NM_001258294,NM_173091,NM_012340,NM_001258292,NM_001258297,NM_001258295,NM_001258296,NM_001136021 NFATC2,NFATC2,NFATC2,NFATC2,NFATC2,NFATC2,NFATC2,NFATC2 EXON Missense_H227R,Missense_H446R,Missense_H446R,Missense_H426R,Missense_H227R,Missense_H227R,Missense_H227R,Missense_H426R exm1550270 20 50133423 [T/C] NM_001258294,NM_173091,NM_012340,NM_001258292,NM_001258297,NM_001258295,NM_001258296,NM_001136021 NFATC2,NFATC2,NFATC2,NFATC2,NFATC2,NFATC2,NFATC2,NFATC2 EXON Missense_R192Q,Missense_R411Q,Missense_R411Q,Missense_R391Q,Missense_R192Q,Missense_R192Q,Missense_R192Q,Missense_R391Q exm1550285 20 50139803 [T/C] NM_001258294,NM_173091,NM_012340,NM_001258292,NM_001258297,NM_001258295,NM_001258296,NM_001136021 NFATC2,NFATC2,NFATC2,NFATC2,NFATC2,NFATC2,NFATC2,NFATC2 EXON Missense_S107N,Missense_S326N,Missense_S326N,Missense_S306N,Missense_S107N,Missense_S107N,Missense_S107N,Missense_S306N exm1550289 20 50139876 [A/C] NM_001258294,NM_173091,NM_012340,NM_001258292,NM_001258297,NM_001258295,NM_001258296,NM_001136021 NFATC2,NFATC2,NFATC2,NFATC2,NFATC2,NFATC2,NFATC2,NFATC2 EXON Missense_V83L,Missense_V302L,Missense_V302L,Missense_V282L,Missense_V83L,Missense_V83L,Missense_V83L,Missense_V282L exm1550313 20 50140629 [C/G] NM_001258294,NM_173091,NM_012340,NM_001258292,NM_001258297,NM_001258295,NM_001258296,NM_001136021 NFATC2,NFATC2,NFATC2,NFATC2,NFATC2,NFATC2,NFATC2,NFATC2 EXON Silent,Missense_V51L,Missense_V51L,Missense_V31L,Silent,Silent,Silent,Missense_V31L exm1550334 20 50221553 [A/G] NM_006045 ATP9A EXON Missense_T937I exm1969109 20 50235546 [T/C] NM_006045 ATP9A EXON Missense_A718T exm1969114 20 50238625 [A/G] NM_006045 ATP9A EXON Synonymous_H701H exm1550401 20 50273592 [A/G] NM_006045 ATP9A EXON Missense_A464V exm1550406 20 50273641 [T/C] NM_006045 ATP9A EXON Missense_V448I exm1550421 20 50287726 [T/C] NM_006045 ATP9A EXON Missense_G370R exm1550447 20 50310547 [A/G] NM_006045 ATP9A EXON Synonymous_A214A exm1550449 20 50310555 [T/G] NM_006045 ATP9A EXON Missense_T212P exm1550457 20 50312633 [A/G] NM_006045 ATP9A EXON Synonymous_N182N exm1550467 20 50342399 [T/C] NM_006045 ATP9A EXON Missense_E96K exm1550471 20 50346491 [A/C] NM_006045 ATP9A EXON Missense_G32V exm1550482 20 50400863 [T/C] NM_020436 SALL4 EXON Missense_G1035S exm1550486 20 50400894 [T/A] NM_020436 SALL4 EXON Missense_S1024R exm1550488 20 50400904 [A/G] NM_020436 SALL4 EXON Missense_S1021L exm1550489 20 50400932 [T/C] NM_020436 SALL4 EXON Missense_T1012A exm1969184 20 50405659 [A/G] NM_020436 SALL4 EXON Missense_T828M exm1550526 20 50406612 [T/C] NM_020436 SALL4 EXON Missense_D804N exm1550527 20 50406630 [T/G] NM_020436 SALL4 EXON Missense_I798L exm1550535 20 50406732 [A/G] NM_020436 SALL4 EXON Missense_S764P exm1550545 20 50406804 [C/G] NM_020436 SALL4 EXON Missense_P740A exm1550546 20 50406807 [A/C] NM_020436 SALL4 EXON Missense_A739S exm1550547 20 50406840 [G/C] NM_020436 SALL4 EXON Missense_A728P exm1550549 20 50406860 [A/G] NM_020436 SALL4 EXON Missense_T721M exm1550552 20 50406973 [C/G] NM_020436 SALL4 EXON Missense_C683W exm1550553 20 50406981 [T/C] NM_020436 SALL4 EXON Missense_A681T exm1550554 20 50406984 [T/C] NM_020436 SALL4 EXON Missense_G680S exm1550569 20 50407266 [G/C] NM_020436 SALL4 EXON Missense_R586G exm1550579 20 50407392 [A/G] NM_020436 SALL4 EXON Missense_P544S exm1550583 20 50407502 [A/C] NM_020436 SALL4 EXON Missense_L507R exm1550586 20 50407518 [A/G] NM_020436 SALL4 EXON Missense_S502P exm1550594 20 50407664 [T/C] NM_020436 SALL4 EXON Missense_N453S exm1550599 20 50407735 [A/C] NM_020436 SALL4 EXON Missense_F429L exm1969204 20 50408072 [A/G] NM_020436 SALL4 EXON Missense_P317L exm1550638 20 50408481 [T/C] NM_020436 SALL4 EXON Missense_V181M exm1550640 20 50408486 [C/G] NM_020436 SALL4 EXON Missense_T179S exm1550641 20 50408493 [T/C] NM_020436 SALL4 EXON Missense_A177T exm1550650 20 50408673 [T/C] NM_020436 SALL4 EXON Missense_G117R exm2272904 20 50466232 [T/C] exm-rs6068020 20 50559652 [T/C] exm1550678 20 50701128 [T/C] NM_199427 ZFP64 EXON Missense_E636K exm1550688 20 50701293 [A/G] NM_199427 ZFP64 EXON Missense_R581C exm1550692 20 50701370 [T/C] NM_199427 ZFP64 EXON Missense_R555Q exm1550698 20 50701487 [A/G] NM_199427 ZFP64 EXON Missense_V516A exm-rs6013382 20 50702633 [T/C] NM_199427 ZFP64 Silent exm1550709 20 50704932 [T/C] NM_199427 ZFP64 EXON Synonymous_T409T exm1550714 20 50705076 [T/G] NM_199427 ZFP64 EXON Missense_H361Q exm1550726 20 50713913 [T/C] NM_199427 ZFP64 EXON Synonymous_T325T exm1550729 20 50713968 [T/C] NM_199427 ZFP64 EXON Missense_H307R exm1550752 20 50768819 [T/G] NM_199427,NM_199426,NM_022088,NM_018197 ZFP64,ZFP64,ZFP64,ZFP64 EXON Silent,Missense_I636L,Missense_I584L,Missense_I638L exm1550756 20 50769004 [T/C] NM_199427,NM_199426,NM_022088,NM_018197 ZFP64,ZFP64,ZFP64,ZFP64 EXON Silent,Missense_Q574R,Missense_Q522R,Missense_Q576R exm1550771 20 50769379 [T/C] NM_199427,NM_199426,NM_022088,NM_018197 ZFP64,ZFP64,ZFP64,ZFP64 EXON Silent,Missense_S449N,Missense_S397N,Missense_S451N exm1550776 20 50769457 [T/A] NM_199427,NM_199426,NM_022088,NM_018197 ZFP64,ZFP64,ZFP64,ZFP64 EXON Silent,Missense_F423Y,Missense_F371Y,Missense_F425Y exm1550778 20 50769485 [A/C] NM_199427,NM_199426,NM_022088,NM_018197 ZFP64,ZFP64,ZFP64,ZFP64 EXON Silent,Missense_V414L,Missense_V362L,Missense_V416L exm1550784 20 50769725 [T/C] NM_199427,NM_199426,NM_022088,NM_018197 ZFP64,ZFP64,ZFP64,ZFP64 EXON Silent,Missense_V334M,Missense_V282M,Missense_V336M exm1550785 20 50769776 [A/G] NM_199427,NM_199426,NM_022088,NM_018197 ZFP64,ZFP64,ZFP64,ZFP64 EXON Silent,Missense_H317Y,Missense_H265Y,Missense_H319Y exm1550789 20 50776683 [T/C] NM_199427,NM_199426,NM_022088,NM_018197 ZFP64,ZFP64,ZFP64,ZFP64 EXON Missense_V248I,Missense_V246I,Missense_V194I,Missense_V248I exm1550802 20 50781235 [T/C] NM_199427,NM_199426,NM_022088,NM_018197 ZFP64,ZFP64,ZFP64,ZFP64 EXON Synonymous_T170T,Synonymous_T168T,Synonymous_T116T,Synonymous_T170T exm1550803 20 50781298 [T/A] NM_199427,NM_199426,NM_022088,NM_018197 ZFP64,ZFP64,ZFP64,ZFP64 Silent,Silent,Silent,Silent exm1550811 20 50782513 [A/G] NM_199427,NM_199426,NM_022088,NM_018197 ZFP64,ZFP64,ZFP64,ZFP64 EXON Missense_T113M,Missense_T111M,Silent,Missense_T113M exm1550813 20 50803442 [T/G] NM_199427,NM_199426,NM_022088,NM_018197 ZFP64,ZFP64,ZFP64,ZFP64 EXON Missense_E72A,Missense_E70A,Missense_E72A,Missense_E72A exm2268309 20 50817740 [A/G] exm2272937 20 51199343 [T/C] exm2272905 20 51251485 [T/C] exm2254329 20 51722623 [T/G] NM_173485 TSHZ2 Silent exm1550832 20 51870106 [A/G] NM_173485,NM_001193421 TSHZ2,TSHZ2 EXON Missense_G37S,Missense_G34S exm1550835 20 51870151 [A/G] NM_173485,NM_001193421 TSHZ2,TSHZ2 EXON Missense_E52K,Missense_E49K exm1550836 20 51870163 [A/G] NM_173485,NM_001193421 TSHZ2,TSHZ2 EXON Missense_T56A,Missense_T53A exm1550843 20 51870244 [T/G] NM_173485,NM_001193421 TSHZ2,TSHZ2 EXON Missense_S83A,Missense_S80A exm1550852 20 51870325 [A/G] NM_173485,NM_001193421 TSHZ2,TSHZ2 EXON Missense_T110A,Missense_T107A exm1550853 20 51870336 [G/C] NM_173485,NM_001193421 TSHZ2,TSHZ2 EXON Missense_R113S,Missense_R110S exm1550867 20 51870539 [T/C] NM_173485,NM_001193421 TSHZ2,TSHZ2 EXON Missense_L181S,Missense_L178S exm1550869 20 51870548 [A/G] NM_173485,NM_001193421 TSHZ2,TSHZ2 EXON Missense_R184Q,Missense_R181Q exm1550873 20 51870593 [A/G] NM_173485,NM_001193421 TSHZ2,TSHZ2 EXON Missense_R199Q,Missense_R196Q exm1550874 20 51870644 [A/G] NM_173485,NM_001193421 TSHZ2,TSHZ2 EXON Missense_R216Q,Missense_R213Q exm1550880 20 51870730 [T/C] NM_173485,NM_001193421 TSHZ2,TSHZ2 EXON Missense_R245C,Missense_R242C exm1550892 20 51870967 [A/G] NM_173485,NM_001193421 TSHZ2,TSHZ2 EXON Missense_V324I,Missense_V321I exm1550893 20 51870985 [A/C] NM_173485,NM_001193421 TSHZ2,TSHZ2 EXON Missense_P330T,Missense_P327T exm1550912 20 51871265 [T/C] NM_173485,NM_001193421 TSHZ2,TSHZ2 EXON Missense_P423L,Missense_P420L exm1550915 20 51871346 [A/C] NM_173485,NM_001193421 TSHZ2,TSHZ2 EXON Missense_A450E,Missense_A447E exm1550921 20 51871432 [A/G] NM_173485,NM_001193421 TSHZ2,TSHZ2 EXON Missense_V479M,Missense_V476M exm1969323 20 51871441 [A/G] NM_173485,NM_001193421 TSHZ2,TSHZ2 EXON Missense_E482K,Missense_E479K exm1550924 20 51871502 [A/G] NM_173485,NM_001193421 TSHZ2,TSHZ2 EXON Missense_R502K,Missense_R499K exm1550931 20 51871699 [T/C] NM_173485,NM_001193421 TSHZ2,TSHZ2 EXON Missense_R568W,Missense_R565W exm1550932 20 51871711 [A/G] NM_173485,NM_001193421 TSHZ2,TSHZ2 EXON Missense_T572A,Missense_T569A exm1550933 20 51871747 [A/G] NM_173485,NM_001193421 TSHZ2,TSHZ2 EXON Missense_V584M,Missense_V581M exm1550937 20 51871781 [T/C] NM_173485,NM_001193421 TSHZ2,TSHZ2 EXON Missense_A595V,Missense_A592V exm1550938 20 51871801 [A/G] NM_173485,NM_001193421 TSHZ2,TSHZ2 EXON Missense_K602E,Missense_K599E exm1550945 20 51871858 [A/G] NM_173485,NM_001193421 TSHZ2,TSHZ2 EXON Missense_E621K,Missense_E618K exm1550950 20 51871900 [T/C] NM_173485,NM_001193421 TSHZ2,TSHZ2 EXON Missense_R635C,Missense_R632C exm1550951 20 51871901 [A/G] NM_173485,NM_001193421 TSHZ2,TSHZ2 EXON Missense_R635H,Missense_R632H exm1550952 20 51871936 [A/G] NM_173485,NM_001193421 TSHZ2,TSHZ2 EXON Missense_E647K,Missense_E644K exm1550956 20 51872038 [A/G] NM_173485,NM_001193421 TSHZ2,TSHZ2 EXON Missense_A681T,Missense_A678T exm1550966 20 51872137 [T/C] NM_173485,NM_001193421 TSHZ2,TSHZ2 EXON Missense_R714C,Missense_R711C exm1550972 20 51872251 [A/G] NM_173485,NM_001193421 TSHZ2,TSHZ2 EXON Missense_V752M,Missense_V749M exm1550982 20 51872368 [T/G] NM_173485,NM_001193421 TSHZ2,TSHZ2 EXON Missense_A791S,Missense_A788S exm1550990 20 51872425 [C/G] NM_173485,NM_001193421 TSHZ2,TSHZ2 EXON Missense_P810A,Missense_P807A exm1551006 20 51872869 [A/C] NM_173485,NM_001193421 TSHZ2,TSHZ2 EXON Missense_R958S,Missense_R955S exm1551009 20 51872915 [A/G] NM_173485,NM_001193421 TSHZ2,TSHZ2 EXON Missense_R973Q,Missense_R970Q exm1551010 20 51872927 [T/C] NM_173485,NM_001193421 TSHZ2,TSHZ2 EXON Missense_A977V,Missense_A974V exm1969336 20 51873061 [A/G] NM_173485,NM_001193421 TSHZ2,TSHZ2 EXON Missense_E1022K,Missense_E1019K exm2260952 20 52019450 [T/C] NM_173485,NM_001193421 TSHZ2,TSHZ2 Silent,Silent exm1551026 20 52188363 [A/G] NM_006526 ZNF217 EXON Missense_S1023P exm1551038 20 52192308 [A/C] NM_006526 ZNF217 EXON Missense_C999G exm1551045 20 52192415 [A/G] NM_006526 ZNF217 EXON Missense_S963L exm1551048 20 52192484 [T/C] NM_006526 ZNF217 EXON Missense_Y940C exm1551052 20 52192512 [C/G] NM_006526 ZNF217 EXON Missense_Q931E exm1551054 20 52192560 [A/G] NM_006526 ZNF217 EXON Missense_P915S exm1551055 20 52192561 [A/C] NM_006526 ZNF217 EXON Missense_E914D exm1551058 20 52192595 [T/C] NM_006526 ZNF217 EXON Missense_R903Q exm1551060 20 52192637 [T/C] NM_006526 ZNF217 EXON Missense_D889G exm1551067 20 52192698 [A/G] NM_006526 ZNF217 EXON Missense_S869P exm1551086 20 52192961 [A/G] NM_006526 ZNF217 EXON Missense_P781L exm1551088 20 52192998 [A/G] NM_006526 ZNF217 EXON Missense_S769P exm1551095 20 52193088 [T/C] NM_006526 ZNF217 EXON Missense_V739I exm2254330 20 52193293 [A/G] NM_006526 ZNF217 EXON Synonymous_T670T exm1551123 20 52193660 [A/G] NM_006526 ZNF217 EXON Missense_T548I exm1551135 20 52198138 [T/C] NM_006526 ZNF217 EXON Missense_M410V exm1551140 20 52198263 [G/C] NM_006526 ZNF217 EXON Missense_P368R exm1551142 20 52198285 [T/C] NM_006526 ZNF217 EXON Missense_V361M exm1551145 20 52198321 [T/C] NM_006526 ZNF217 EXON Missense_E349K exm1969369 20 52198582 [T/C] NM_006526 ZNF217 EXON Missense_R262G exm1551187 20 52199238 [T/G] NM_006526 ZNF217 EXON Missense_T43N exm-rs6091737 20 52349892 [T/C] exm2272907 20 52425620 [T/C] exm1551199 20 52561469 [A/G] NM_003657 BCAS1 EXON Missense_S583P exm1551203 20 52570005 [T/C] NM_003657 BCAS1 EXON Missense_R549Q exm1551204 20 52570006 [A/G] NM_003657 BCAS1 EXON Missense_R549W exm1551206 20 52570040 [C/G] NM_003657 BCAS1 EXON Missense_Q537H exm2234602 20 52570062 [A/G] NM_003657 BCAS1 EXON Missense_T530M exm1551220 20 52573971 [T/G] NM_003657 BCAS1 EXON Missense_Q472H exm1969388 20 52574011 [T/G] NM_003657 BCAS1 EXON Missense_T459N exm1551230 20 52583537 [T/C] NM_003657 BCAS1 EXON Missense_E420K exm1551240 20 52591969 [A/G] NM_003657 BCAS1 EXON Missense_S381P exm1551243 20 52601827 [T/A] NM_003657 BCAS1 EXON Missense_K380M exm1551244 20 52601893 [A/G] NM_003657 BCAS1 EXON Missense_A358V exm1551260 20 52611552 [A/G] NM_003657 BCAS1 EXON Missense_T309M exm1551269 20 52612543 [A/G] NM_003657 BCAS1 EXON Missense_A257V exm1551270 20 52612549 [T/C] NM_003657 BCAS1 EXON Missense_G255E exm1551288 20 52645142 [A/G] NM_003657 BCAS1 EXON Missense_T171M exm1551291 20 52645166 [A/G] NM_003657 BCAS1 EXON Missense_V163A exm1551292 20 52645167 [A/C] NM_003657 BCAS1 EXON Missense_V163F exm1969415 20 52645265 [A/G] NM_003657 BCAS1 EXON Missense_A130V exm1969416 20 52645290 [C/G] NM_003657 BCAS1 EXON Missense_D122H exm1551300 20 52645363 [A/C] NM_003657 BCAS1 EXON Missense_L97F exm1551306 20 52645475 [C/G] NM_003657 BCAS1 EXON Missense_A60G exm1551307 20 52645487 [A/G] NM_003657 BCAS1 EXON Missense_T56M exm1551318 20 52674671 [G/C] NM_003657 BCAS1 EXON Missense_G32A exm1551320 20 52675251 [T/C] NM_003657 BCAS1 EXON Missense_N3D exm2273582 20 52771261 [A/G] NM_000782,NM_001128915 CYP24A1,CYP24A1 EXON Silent,Silent exm1551331 20 52773734 [A/G] NM_000782,NM_001128915 CYP24A1,CYP24A1 EXON Missense_A510V,Missense_A444V exm1551339 20 52773992 [T/C] NM_000782,NM_001128915 CYP24A1,CYP24A1 EXON Missense_V457I,Silent exm1551340 20 52774009 [A/G] NM_000782,NM_001128915 CYP24A1,CYP24A1 EXON Missense_A451V,Silent exm1551342 20 52774045 [T/C] NM_000782,NM_001128915 CYP24A1,CYP24A1 EXON Missense_R439H,Silent exm1551350 20 52774635 [A/G] NM_000782,NM_001128915 CYP24A1,CYP24A1 EXON Missense_L409S,Missense_L409S exm1551353 20 52774674 [T/C] NM_000782,NM_001128915 CYP24A1,CYP24A1 EXON Missense_R396Q,Missense_R396Q exm1551354 20 52774675 [A/G] NM_000782,NM_001128915 CYP24A1,CYP24A1 EXON Missense_R396W,Missense_R396W exm1551358 20 52775514 [T/C] NM_000782,NM_001128915 CYP24A1,CYP24A1 EXON Missense_C380Y,Missense_C380Y exm1551360 20 52775532 [A/G] NM_000782,NM_001128915 CYP24A1,CYP24A1 EXON Missense_M374T,Missense_M374T exm1551363 20 52775622 [T/C] NM_000782,NM_001128915 CYP24A1,CYP24A1 EXON Missense_R344H,Missense_R344H exm1969445 20 52779338 [G/C] NM_000782,NM_001128915 CYP24A1,CYP24A1 EXON Missense_C303S,Missense_C303S exm1551384 20 52781100 [T/C] NM_000782,NM_001128915 CYP24A1,CYP24A1 EXON Missense_M245I,Missense_M245I exm2254332 20 52785859 [A/G] NM_000782,NM_001128915 CYP24A1,CYP24A1 Silent,Silent exm1551391 20 52786155 [T/C] NM_000782,NM_001128915 CYP24A1,CYP24A1 EXON Missense_E206K,Missense_E206K exm1551392 20 52786167 [G/C] NM_000782,NM_001128915 CYP24A1,CYP24A1 EXON Missense_D202H,Missense_D202H exm-rs2296241 20 52786219 [A/G] NM_000782,NM_001128915 CYP24A1,CYP24A1 EXON Synonymous_A184A,Synonymous_A184A exm1551394 20 52788126 [T/C] NM_000782,NM_001128915 CYP24A1,CYP24A1 EXON Missense_K178R,Missense_K178R exm1551398 20 52788189 [T/C] NM_000782,NM_001128915 CYP24A1,CYP24A1 EXON Missense_R157Q,Missense_R157Q exm2277196 20 52788190 [A/G] NM_000782,NM_001128915 CYP24A1,CYP24A1 EXON Missense_R157W,Missense_R157W exm1551404 20 52789454 [A/G] NM_000782,NM_001128915 CYP24A1,CYP24A1 EXON Missense_L148P,Missense_L148P exm1551405 20 52789468 [T/G] NM_000782,NM_001128915 CYP24A1,CYP24A1 EXON Missense_E143D,Missense_E143D exm1551406 20 52789469 [T/C] NM_000782,NM_001128915 CYP24A1,CYP24A1 EXON Missense_E143G,Missense_E143G exm1551408 20 52789512 [T/G] NM_000782,NM_001128915 CYP24A1,CYP24A1 EXON Missense_L129M,Missense_L129M exm1551419 20 52789902 [A/T] NM_000782,NM_001128915 CYP24A1,CYP24A1 EXON Missense_I73F,Missense_I73F exm1551441 20 52835613 [A/G] NM_002623 PFDN4 EXON Missense_R110Q exm1551449 20 53171485 [T/G] NM_018431 DOK5 EXON Missense_C27F exm1551450 20 53171505 [A/G] NM_018431 DOK5 EXON Missense_A34T exm2272939 20 53196113 [T/C] NM_018431 DOK5 Silent exm1551458 20 53205280 [A/G] NM_018431 DOK5 EXON Missense_R115Q exm1551461 20 53205289 [A/G] NM_018431 DOK5 EXON Missense_D118G exm1551464 20 53208209 [A/G] NM_018431 DOK5 EXON Missense_C155Y exm1551475 20 53227034 [A/G] NM_018431 DOK5 EXON Missense_R236H exm1551479 20 53260024 [A/G] NM_018431 DOK5 EXON Missense_A255T exm1551491 20 53266975 [T/G] NM_018431 DOK5 EXON Missense_L293R exm2272908 20 53532627 [T/C] exm2272940 20 53762628 [T/C] exm-rs6092078 20 53801129 [A/G] exm2268311 20 54067599 [A/G] exm-rs731803 20 54507813 [T/C] exm2254337 20 54751363 [T/C] exm1969518 20 54823993 [A/T] NM_019888 MC3R EXON Missense_S32C exm1551534 20 54824029 [A/G] NM_019888 MC3R EXON Missense_V44I exm1551535 20 54824033 [T/C] NM_019888 MC3R EXON Missense_F45S exm1969522 20 54824533 [G/C] NM_019888 MC3R EXON Missense_L212V exm1551559 20 54824557 [A/C] NM_019888 MC3R EXON Missense_R220S exm1551560 20 54824612 [T/C] NM_019888 MC3R EXON Missense_M238T exm1551565 20 54824677 [G/C] NM_019888 MC3R EXON Missense_L260V exm1551590 20 54941140 [T/C] NM_080821 FAM210B EXON Missense_P126S exm1551591 20 54941161 [A/G] NM_080821 FAM210B EXON Missense_G133R exm1551608 20 54945542 [T/C] NM_003600,NM_198436,NM_198437,NM_198435,NM_198434,NM_198433 AURKA,AURKA,AURKA,AURKA,AURKA,AURKA EXON Missense_R343Q,Missense_R343Q,Missense_R343Q,Missense_R343Q,Missense_R343Q,Missense_R343Q exm1551619 20 54961321 [A/G] NM_003600,NM_198436,NM_198437,NM_198435,NM_198434,NM_198433 AURKA,AURKA,AURKA,AURKA,AURKA,AURKA EXON Missense_S104L,Missense_S104L,Missense_S104L,Missense_S104L,Missense_S104L,Missense_S104L exm1551622 20 54961463 [T/C] NM_003600,NM_198436,NM_198437,NM_198435,NM_198434,NM_198433 AURKA,AURKA,AURKA,AURKA,AURKA,AURKA EXON Missense_I57V,Missense_I57V,Missense_I57V,Missense_I57V,Missense_I57V,Missense_I57V exm1551624 20 54961483 [A/G] NM_003600,NM_198436,NM_198437,NM_198435,NM_198434,NM_198433 AURKA,AURKA,AURKA,AURKA,AURKA,AURKA EXON Missense_P50L,Missense_P50L,Missense_P50L,Missense_P50L,Missense_P50L,Missense_P50L exm1551626 20 54961541 [A/T] NM_003600,NM_198436,NM_198437,NM_198435,NM_198434,NM_198433 AURKA,AURKA,AURKA,AURKA,AURKA,AURKA EXON Missense_F31I,Missense_F31I,Missense_F31I,Missense_F31I,Missense_F31I,Missense_F31I exm1551640 20 54970776 [T/C] NM_001033521,NM_001324,NM_001033522 CSTF1,CSTF1,CSTF1 EXON Synonymous_L56L,Synonymous_L56L,Synonymous_L56L exm1551641 20 54972283 [A/G] NM_001033521,NM_001324,NM_001033522 CSTF1,CSTF1,CSTF1 EXON Missense_A64T,Missense_A64T,Missense_A64T exm1551670 20 54974412 [A/G] NM_001033521,NM_001324,NM_001033522 CSTF1,CSTF1,CSTF1 EXON Synonymous_T345T,Synonymous_T345T,Synonymous_T345T exm1551693 20 54987530 [A/G] NM_001164116,NM_001164115,NM_020356,NM_001164114 CASS4,CASS4,CASS4,CASS4 EXON Missense_I6V,Missense_I6V,Missense_I6V,Missense_I6V exm1551707 20 55012461 [A/G] NM_001164116,NM_001164115,NM_020356,NM_001164114 CASS4,CASS4,CASS4,CASS4 EXON Missense_S93N,Missense_S93N,Missense_S93N,Missense_S93N exm1551717 20 55012586 [A/G] NM_001164116,NM_001164115,NM_020356,NM_001164114 CASS4,CASS4,CASS4,CASS4 EXON Missense_D135N,Missense_D135N,Missense_D135N,Silent exm1551721 20 55020983 [T/C] NM_001164116,NM_001164115,NM_020356,NM_001164114 CASS4,CASS4,CASS4,CASS4 EXON Missense_R163W,Missense_R163W,Missense_R163W,Missense_R109W exm1551723 20 55020999 [T/C] NM_001164116,NM_001164115,NM_020356,NM_001164114 CASS4,CASS4,CASS4,CASS4 EXON Missense_T168I,Missense_T168I,Missense_T168I,Missense_T114I exm1551726 20 55021038 [A/G] NM_001164116,NM_001164115,NM_020356,NM_001164114 CASS4,CASS4,CASS4,CASS4 EXON Missense_R181Q,Missense_R181Q,Missense_R181Q,Missense_R127Q exm1551731 20 55026920 [A/G] NM_001164116,NM_001164115,NM_020356,NM_001164114 CASS4,CASS4,CASS4,CASS4 EXON Missense_G230S,Silent,Missense_G230S,Missense_G176S exm1551732 20 55026966 [A/G] NM_001164116,NM_001164115,NM_020356,NM_001164114 CASS4,CASS4,CASS4,CASS4 EXON Missense_D245G,Silent,Missense_D245G,Missense_D191G exm1551734 20 55026995 [A/G] NM_001164116,NM_001164115,NM_020356,NM_001164114 CASS4,CASS4,CASS4,CASS4 EXON Missense_V255I,Silent,Missense_V255I,Missense_V201I exm1551747 20 55027250 [G/C] NM_001164116,NM_001164115,NM_020356,NM_001164114 CASS4,CASS4,CASS4,CASS4 EXON Missense_V340L,Silent,Missense_V340L,Missense_V286L exm1551760 20 55027464 [C/G] NM_001164116,NM_001164115,NM_020356,NM_001164114 CASS4,CASS4,CASS4,CASS4 EXON Missense_S411C,Silent,Missense_S411C,Missense_S357C exm1551763 20 55027509 [T/C] NM_001164116,NM_001164115,NM_020356,NM_001164114 CASS4,CASS4,CASS4,CASS4 EXON Missense_S426L,Silent,Missense_S426L,Missense_S372L exm1551768 20 55027659 [T/C] NM_001164116,NM_001164115,NM_020356,NM_001164114 CASS4,CASS4,CASS4,CASS4 EXON Missense_I476T,Silent,Missense_I476T,Missense_I422T exm1551771 20 55027704 [A/G] NM_001164116,NM_001164115,NM_020356,NM_001164114 CASS4,CASS4,CASS4,CASS4 EXON Missense_R491K,Silent,Missense_R491K,Missense_R437K exm1551776 20 55027970 [A/G] NM_001164116,NM_001164115,NM_020356,NM_001164114 CASS4,CASS4,CASS4,CASS4 EXON Missense_V580I,Silent,Missense_V580I,Missense_V526I exm1969595 20 55028000 [T/C] NM_001164116,NM_001164115,NM_020356,NM_001164114 CASS4,CASS4,CASS4,CASS4 EXON Missense_R590W,Silent,Missense_R590W,Missense_R536W exm1969598 20 55028161 [T/A] NM_001164116,NM_001164115,NM_020356,NM_001164114 CASS4,CASS4,CASS4,CASS4 EXON Missense_K643N,Silent,Missense_K643N,Missense_K589N exm1551788 20 55033420 [T/C] NM_001164116,NM_001164115,NM_020356,NM_001164114 CASS4,CASS4,CASS4,CASS4 EXON Missense_P660S,Missense_P223S,Missense_P660S,Missense_P606S exm1551790 20 55033466 [A/G] NM_001164116,NM_001164115,NM_020356,NM_001164114 CASS4,CASS4,CASS4,CASS4 EXON Missense_H675R,Missense_H238R,Missense_H675R,Missense_H621R exm1551792 20 55033487 [A/C] NM_001164116,NM_001164115,NM_020356,NM_001164114 CASS4,CASS4,CASS4,CASS4 EXON Missense_A682E,Missense_A245E,Missense_A682E,Missense_A628E exm1551793 20 55033505 [C/G] NM_001164116,NM_001164115,NM_020356,NM_001164114 CASS4,CASS4,CASS4,CASS4 EXON Missense_S688T,Missense_S251T,Missense_S688T,Missense_S634T exm1551794 20 55033507 [A/G] NM_001164116,NM_001164115,NM_020356,NM_001164114 CASS4,CASS4,CASS4,CASS4 EXON Missense_A689T,Missense_A252T,Missense_A689T,Missense_A635T exm1551805 20 55033645 [T/C] NM_001164116,NM_001164115,NM_020356,NM_001164114 CASS4,CASS4,CASS4,CASS4 EXON Missense_R735C,Missense_R298C,Missense_R735C,Missense_R681C exm1551807 20 55033660 [T/C] NM_001164116,NM_001164115,NM_020356,NM_001164114 CASS4,CASS4,CASS4,CASS4 EXON Missense_L740F,Missense_L303F,Missense_L740F,Missense_L686F exm1551820 20 55033782 [T/G] NM_001164116,NM_001164115,NM_020356,NM_001164114 CASS4,CASS4,CASS4,CASS4 EXON Missense_Q780H,Missense_Q343H,Missense_Q780H,Missense_Q726H exm1551835 20 55048429 [A/G] NM_016407 RTFDC1 EXON Missense_I48V exm1551840 20 55052111 [A/G] NM_016407 RTFDC1 EXON Missense_K110R exm1551852 20 55066619 [T/G] NM_016407,NM_080615 RTFDC1,GCNT7 EXON Silent,Missense_N429K exm1551853 20 55066623 [A/G] NM_016407,NM_080615 RTFDC1,GCNT7 EXON Silent,Missense_L428P exm1551854 20 55066633 [T/G] NM_016407,NM_080615 RTFDC1,GCNT7 EXON Silent,Missense_N425H exm1969614 20 55070309 [G/C] NM_016407,NM_080615 RTFDC1,GCNT7 EXON Silent,Missense_R339G exm1551884 20 55088404 [A/G] NM_016407,NM_080615 RTFDC1,GCNT7 EXON Missense_M171V,Silent exm1551897 20 55092245 [T/C] NM_016407,NM_080615 RTFDC1,GCNT7 EXON Missense_P244S,Silent exm1969619 20 55093178 [T/C] NM_016407,NM_080615 RTFDC1,GCNT7 EXON Missense_P260S,Silent exm1551907 20 55093281 [T/A] NM_016407,NM_080615 RTFDC1,GCNT7 EXON Missense_E294V,Silent exm1551921 20 55100029 [T/G] NM_080615,NM_001012971 GCNT7,FAM209A EXON Silent,Missense_W55C exm1551927 20 55101014 [A/G] NM_001012971 FAM209A EXON Missense_R135H exm1551929 20 55101019 [A/G] NM_001012971 FAM209A EXON Missense_M137V exm1551932 20 55101065 [T/G] NM_001012971 FAM209A EXON Missense_M152R exm1551933 20 55101085 [A/G] NM_001012971 FAM209A EXON Missense_V159I exm1551936 20 55101103 [T/C] NM_001012971 FAM209A EXON Missense_W165R exm1551941 20 55101116 [T/G] NM_001012971 FAM209A EXON Missense_S169I exm1551953 20 55108510 [A/G] NM_001013646 FAM209B EXON Missense_C38Y exm1551963 20 55108617 [A/C] NM_001013646 FAM209B EXON Missense_Q74K exm1551966 20 55111228 [A/G] NM_001013646 FAM209B EXON Missense_E84K exm1551972 20 55111364 [A/C] NM_001013646 FAM209B EXON Missense_E129A exm2254339 20 55116737 [T/C] exm1552009 20 55209291 [A/G] NM_003222 TFAP2C EXON Missense_A297T exm1552015 20 55212851 [A/G] NM_003222 TFAP2C EXON Missense_A379T exm2260956 20 55354424 [T/C] exm-rs2426689 20 55369594 [T/C] exm-rs331615 20 55638537 [T/A] exm-rs6127921 20 55638750 [A/C] exm2254340 20 55650465 [A/G] exm1552052 20 55750060 [T/C] NM_001719 BMP7 EXON Missense_N321S exm1552055 20 55758791 [T/C] NM_001719 BMP7 EXON Missense_M315I exm1552057 20 55758819 [A/G] NM_001719 BMP7 EXON Missense_T306M exm1552063 20 55758914 [A/C] NM_001719 BMP7 EXON Missense_Q274H exm2254341 20 55758929 [T/C] NM_001719 BMP7 EXON Synonymous_G269G exm1552066 20 55758936 [T/C] NM_001719 BMP7 EXON Missense_R267Q exm1552070 20 55777539 [A/G] NM_001719 BMP7 EXON Missense_T251M exm1552072 20 55777548 [A/G] NM_001719 BMP7 EXON Missense_S248L exm1552073 20 55777573 [A/G] NM_001719 BMP7 EXON Missense_R240W exm1552084 20 55803316 [T/C] NM_001719 BMP7 EXON Missense_V194I exm1552090 20 55803440 [A/G] NM_001719 BMP7 EXON Synonymous_H152H exm1552091 20 55803447 [T/C] NM_001719 BMP7 EXON Missense_R150H exm1969736 20 55904948 [A/G] NM_198265,NM_012444 SPO11,SPO11 EXON Missense_E9K,Missense_E9K exm1969737 20 55904961 [T/C] NM_198265,NM_012444 SPO11,SPO11 EXON Missense_F13S,Missense_F13S exm1552107 20 55904965 [A/C] NM_198265,NM_012444 SPO11,SPO11 EXON Missense_D14E,Missense_D14E exm1552115 20 55906923 [T/C] NM_198265,NM_012444 SPO11,SPO11 EXON Silent,Nonsense_Q56X exm2234619 20 55908269 [A/G] NM_198265,NM_012444 SPO11,SPO11 EXON Missense_M53V,Missense_M91V exm1552121 20 55908764 [T/C] NM_198265,NM_012444 SPO11,SPO11 EXON Missense_S81F,Missense_S119F exm1552130 20 55909089 [A/G] NM_198265,NM_012444 SPO11,SPO11 EXON Missense_V112I,Missense_V150I exm1552131 20 55909092 [A/G] NM_198265,NM_012444 SPO11,SPO11 EXON Missense_D113N,Missense_D151N exm1552132 20 55909095 [A/C] NM_198265,NM_012444 SPO11,SPO11 EXON Missense_N114H,Missense_N152H exm1552135 20 55909842 [A/G] NM_198265,NM_012444 SPO11,SPO11 EXON Missense_R145G,Missense_R183G exm1552142 20 55910863 [T/C] NM_198265,NM_012444 SPO11,SPO11 EXON Missense_T177I,Missense_T215I exm1552153 20 55917801 [T/G] NM_198265,NM_012444,NR_039970 SPO11,SPO11,MIR5095 EXON Missense_D288Y,Missense_D326Y,Silent exm1552168 20 55929828 [A/G] NR_039970,NM_003610,NM_001015885 MIR5095,RAE1,RAE1 EXON Silent,Missense_T51A,Missense_T51A exm1552173 20 55931594 [T/C] NR_039970,NM_003610,NM_001015885 MIR5095,RAE1,RAE1 EXON Silent,Synonymous_D96D,Synonymous_D96D exm1552180 20 55941872 [T/C] NR_039970,NM_003610,NM_001015885 MIR5095,RAE1,RAE1 EXON Silent,Missense_P129S,Missense_P129S exm1552192 20 55948719 [T/C] NR_039970,NM_003610,NM_001015885 MIR5095,RAE1,RAE1 EXON Silent,Synonymous_P250P,Synonymous_P250P exm2275159 20 55967824 [G/C] NR_039970,NM_017495,NM_183425 MIR5095,RBM38,RBM38 EXON Silent,Missense_L118V,Missense_L118V exm1552233 20 55982673 [T/C] NR_039970,NM_017495,NM_183425 MIR5095,RBM38,RBM38 EXON Silent,Missense_S164L,Silent exm1552242 20 55982775 [T/C] NR_039970,NM_017495,NM_183425 MIR5095,RBM38,RBM38 EXON Silent,Missense_T198M,Silent exm1552244 20 55982843 [A/G] NR_039970,NM_017495,NM_183425 MIR5095,RBM38,RBM38 EXON Silent,Missense_A221T,Silent exm-rs6092477 20 55991695 [A/G] NR_039970 MIR5095 Silent exm2254343 20 56034988 [A/G] exm1552284 20 56073644 [T/C] NM_001269043,NM_001269046,NM_080618,NM_001269040,NM_001269041,NM_001269042 CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL EXON Missense_V652M,Missense_V602M,Missense_V652M,Missense_V652M,Missense_V652M,Missense_V651M exm1552293 20 56078504 [T/C] NM_001269043,NM_001269046,NM_080618,NM_001269040,NM_001269041,NM_001269042,NR_072975,NM_001269054,NM_001269044,NM_001269049 CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL EXON Missense_A610T,Missense_A560T,Missense_A610T,Missense_A610T,Missense_A610T,Missense_A610T,Silent,Missense_A348T,Missense_A610T,Missense_A405T exm1552309 20 56083720 [A/G] NM_001269043,NM_001269046,NM_080618,NM_001269040,NM_001269041,NM_001269042,NR_072975,NM_001269054,NM_001269044,NM_001269049,NM_001269050,NM_001269048,NM_001269047,NM_001269045,NM_001269055 CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL EXON Missense_A539V,Missense_A489V,Missense_A539V,Missense_A539V,Missense_A539V,Missense_A539V,Silent,Missense_A277V,Missense_A539V,Missense_A334V,Missense_A334V,Missense_A395V,Missense_A539V,Missense_A539V,Missense_A277V exm1552315 20 56083837 [T/C] NM_001269043,NM_001269046,NM_080618,NM_001269040,NM_001269041,NM_001269042,NR_072975,NM_001269054,NM_001269044,NM_001269049,NM_001269050,NM_001269048,NM_001269047,NM_001269045,NM_001269055 CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL EXON Missense_H500R,Missense_H450R,Missense_H500R,Missense_H500R,Missense_H500R,Missense_H500R,Silent,Missense_H238R,Missense_H500R,Missense_H295R,Missense_H295R,Missense_H356R,Missense_H500R,Missense_H500R,Missense_H238R exm1552319 20 56087796 [T/C] NM_001269043,NM_001269046,NM_080618,NM_001269040,NM_001269041,NM_001269042,NR_072975,NM_001269054,NM_001269044,NM_001269049,NM_001269050,NM_001269048,NM_001269047,NM_001269045,NM_001269055 CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL EXON Missense_R448H,Missense_R398H,Missense_R448H,Missense_R448H,Missense_R448H,Missense_R448H,Silent,Missense_R186H,Missense_R448H,Missense_R243H,Missense_R243H,Silent,Missense_R448H,Missense_R448H,Missense_R186H exm1552320 20 56087800 [T/C] NM_001269043,NM_001269046,NM_080618,NM_001269040,NM_001269041,NM_001269042,NR_072975,NM_001269054,NM_001269044,NM_001269049,NM_001269050,NM_001269048,NM_001269047,NM_001269045,NM_001269055 CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL EXON Missense_M447V,Missense_M397V,Missense_M447V,Missense_M447V,Missense_M447V,Missense_M447V,Silent,Missense_M185V,Missense_M447V,Missense_M242V,Missense_M242V,Silent,Missense_M447V,Missense_M447V,Missense_M185V exm1552332 20 56093888 [T/C] NM_001269043,NM_001269046,NM_080618,NM_001269040,NM_001269041,NM_001269042,NR_072975,NM_001269054,NM_001269044,NM_001269049,NM_001269050,NM_001269048,NM_001269047,NM_001269045,NM_001269055,NM_001269052,NM_001269051 CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL EXON Missense_V329I,Missense_V329I,Missense_V329I,Missense_V329I,Missense_V329I,Missense_V329I,Silent,Missense_V67I,Missense_V329I,Missense_V124I,Missense_V124I,Missense_V329I,Missense_V329I,Missense_V329I,Missense_V67I,Missense_V329I,Missense_V329I exm1552339 20 56094316 [A/G] NM_001269043,NM_001269046,NM_080618,NM_001269040,NM_001269041,NM_001269042,NR_072975,NM_001269054,NM_001269044,NM_001269049,NM_001269050,NM_001269048,NM_001269047,NM_001269045,NM_001269055,NM_001269052,NM_001269051 CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL EXON Missense_L291P,Missense_L291P,Missense_L291P,Missense_L291P,Missense_L291P,Missense_L291P,Silent,Missense_L29P,Missense_L291P,Missense_L86P,Missense_L86P,Missense_L291P,Missense_L291P,Missense_L291P,Missense_L29P,Missense_L291P,Missense_L291P exm1552341 20 56094367 [T/C] NM_001269043,NM_001269046,NM_080618,NM_001269040,NM_001269041,NM_001269042,NR_072975,NM_001269054,NM_001269044,NM_001269049,NM_001269050,NM_001269048,NM_001269047,NM_001269045,NM_001269055,NM_001269052,NM_001269051 CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL EXON Missense_R274H,Missense_R274H,Missense_R274H,Missense_R274H,Missense_R274H,Missense_R274H,Silent,Missense_R12H,Missense_R274H,Missense_R69H,Missense_R69H,Missense_R274H,Missense_R274H,Missense_R274H,Missense_R12H,Missense_R274H,Missense_R274H exm1552346 20 56098150 [G/C] NM_001269043,NM_001269046,NM_080618,NM_001269040,NM_001269041,NM_001269042,NR_072975,NM_001269054,NM_001269044,NM_001269049,NM_001269050,NM_001269048,NM_001269047,NM_001269045,NM_001269055,NM_001269052,NM_001269051 CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL EXON Missense_S243C,Missense_S243C,Missense_S243C,Missense_S243C,Missense_S243C,Missense_S243C,Silent,Silent,Missense_S243C,Missense_S38C,Missense_S38C,Missense_S243C,Missense_S243C,Missense_S243C,Silent,Missense_S243C,Missense_S243C exm1552347 20 56098181 [T/C] NM_001269043,NM_001269046,NM_080618,NM_001269040,NM_001269041,NM_001269042,NR_072975,NM_001269054,NM_001269044,NM_001269049,NM_001269050,NM_001269048,NM_001269047,NM_001269045,NM_001269055,NM_001269052,NM_001269051 CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL EXON Missense_A233T,Missense_A233T,Missense_A233T,Missense_A233T,Missense_A233T,Missense_A233T,Silent,Silent,Missense_A233T,Missense_A28T,Missense_A28T,Missense_A233T,Missense_A233T,Missense_A233T,Silent,Missense_A233T,Missense_A233T exm1552358 20 56098315 [T/A] NM_001269043,NM_001269046,NM_080618,NM_001269040,NM_001269041,NM_001269042,NR_072975,NM_001269054,NM_001269044,NM_001269049,NM_001269050,NM_001269048,NM_001269047,NM_001269045,NM_001269055,NM_001269052,NM_001269051 CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL EXON Missense_K188M,Missense_K188M,Missense_K188M,Missense_K188M,Missense_K188M,Missense_K188M,Silent,Silent,Missense_K188M,Silent,Silent,Missense_K188M,Missense_K188M,Missense_K188M,Silent,Missense_K188M,Missense_K188M exm1552359 20 56098733 [T/C] NM_001269043,NM_001269046,NM_080618,NM_001269040,NM_001269041,NM_001269042,NR_072975,NM_001269054,NM_001269044,NM_001269049,NM_001269050,NM_001269048,NM_001269047,NM_001269045,NM_001269055,NM_001269052,NM_001269051 CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL EXON Missense_T177A,Missense_T177A,Missense_T177A,Missense_T177A,Missense_T177A,Missense_T177A,Silent,Silent,Missense_T177A,Silent,Silent,Missense_T177A,Missense_T177A,Missense_T177A,Silent,Missense_T177A,Missense_T177A exm1552368 20 56098806 [A/C] NM_001269043,NM_001269046,NM_080618,NM_001269040,NM_001269041,NM_001269042,NR_072975,NM_001269054,NM_001269044,NM_001269049,NM_001269050,NM_001269048,NM_001269047,NM_001269045,NM_001269055,NM_001269052,NM_001269051 CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL EXON Missense_Q152H,Missense_Q152H,Missense_Q152H,Missense_Q152H,Missense_Q152H,Missense_Q152H,Silent,Silent,Missense_Q152H,Silent,Silent,Missense_Q152H,Missense_Q152H,Missense_Q152H,Silent,Missense_Q152H,Missense_Q152H exm1552370 20 56098855 [A/C] NM_001269043,NM_001269046,NM_080618,NM_001269040,NM_001269041,NM_001269042,NR_072975,NM_001269054,NM_001269044,NM_001269049,NM_001269050,NM_001269048,NM_001269047,NM_001269045,NM_001269055,NM_001269052,NM_001269051 CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL EXON Missense_I136S,Missense_I136S,Missense_I136S,Missense_I136S,Missense_I136S,Missense_I136S,Silent,Silent,Missense_I136S,Silent,Silent,Missense_I136S,Missense_I136S,Missense_I136S,Silent,Missense_I136S,Missense_I136S exm1552371 20 56098882 [T/C] NM_001269043,NM_001269046,NM_080618,NM_001269040,NM_001269041,NM_001269042,NR_072975,NM_001269054,NM_001269044,NM_001269049,NM_001269050,NM_001269048,NM_001269047,NM_001269045,NM_001269055,NM_001269052,NM_001269051 CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL EXON Missense_R127Q,Missense_R127Q,Missense_R127Q,Missense_R127Q,Missense_R127Q,Missense_R127Q,Silent,Silent,Missense_R127Q,Silent,Silent,Missense_R127Q,Missense_R127Q,Missense_R127Q,Silent,Missense_R127Q,Missense_R127Q exm1552381 20 56099110 [T/C] NM_001269043,NM_001269046,NM_080618,NM_001269040,NM_001269041,NM_001269042,NR_072975,NM_001269054,NM_001269044,NM_001269049,NM_001269050,NM_001269048,NM_001269047,NM_001269045,NM_001269055,NM_001269052,NM_001269051 CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL EXON Missense_R51H,Missense_R51H,Missense_R51H,Missense_R51H,Missense_R51H,Missense_R51H,Silent,Silent,Missense_R51H,Silent,Silent,Missense_R51H,Missense_R51H,Missense_R51H,Silent,Missense_R51H,Missense_R51H exm1552382 20 56099114 [C/G] NM_001269043,NM_001269046,NM_080618,NM_001269040,NM_001269041,NM_001269042,NR_072975,NM_001269054,NM_001269044,NM_001269049,NM_001269050,NM_001269048,NM_001269047,NM_001269045,NM_001269055,NM_001269052,NM_001269051 CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL EXON Missense_E50Q,Missense_E50Q,Missense_E50Q,Missense_E50Q,Missense_E50Q,Missense_E50Q,Silent,Silent,Missense_E50Q,Silent,Silent,Missense_E50Q,Missense_E50Q,Missense_E50Q,Silent,Missense_E50Q,Missense_E50Q exm2234626 20 56099237 [A/G] NM_001269043,NM_001269046,NM_080618,NM_001269040,NM_001269041,NM_001269042,NR_072975,NM_001269054,NM_001269044,NM_001269049,NM_001269050,NM_001269048,NM_001269047,NM_001269045,NM_001269055,NM_001269052,NM_001269051 CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL EXON Missense_L9F,Missense_L9F,Missense_L9F,Missense_L9F,Missense_L9F,Missense_L9F,Silent,Silent,Missense_L9F,Silent,Silent,Missense_L9F,Missense_L9F,Missense_L9F,Silent,Missense_L9F,Missense_L9F exm1552391 20 56099254 [C/G] NM_001269043,NM_001269046,NM_080618,NM_001269040,NM_001269041,NM_001269042,NR_072975,NM_001269054,NM_001269044,NM_001269049,NM_001269050,NM_001269048,NM_001269047,NM_001269045,NM_001269055,NM_001269052,NM_001269051 CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL,CTCFL EXON Missense_A3G,Missense_A3G,Missense_A3G,Missense_A3G,Missense_A3G,Missense_A3G,Silent,Silent,Missense_A3G,Silent,Silent,Missense_A3G,Missense_A3G,Missense_A3G,Silent,Missense_A3G,Missense_A3G exm1552395 20 56136474 [T/C] NM_002591 PCK1 EXON Missense_P3S exm2234627 20 56136510 [T/G] NM_002591 PCK1 EXON Missense_V15F exm1552403 20 56136588 [A/G] NM_002591 PCK1 EXON Missense_D41N exm1552408 20 56136646 [T/C] NM_002591 PCK1 EXON Missense_M60T exm1552409 20 56136660 [A/G] NM_002591 PCK1 EXON Missense_I65V exm1552410 20 56136670 [A/G] NM_002591 PCK1 EXON Missense_R68Q exm1552416 20 56137130 [T/G] NM_002591 PCK1 EXON Missense_W76C exm1552431 20 56137755 [A/G] NM_002591 PCK1 EXON Missense_R137H exm1552432 20 56137758 [T/C] NM_002591 PCK1 EXON Missense_T138I exm1552439 20 56137817 [A/G] NM_002591 PCK1 EXON Missense_I158V exm1552446 20 56137866 [T/C] NM_002591 PCK1 EXON Missense_T174M exm1552448 20 56137895 [C/G] NM_002591 PCK1 EXON Missense_V184L exm1552450 20 56137901 [A/G] NM_002591 PCK1 EXON Missense_D186N exm1552452 20 56137922 [T/C] NM_002591 PCK1 EXON Missense_L193F exm1552472 20 56138621 [A/G] NM_002591 PCK1 EXON Missense_I267V exm1552473 20 56138648 [A/G] NM_002591 PCK1 EXON Missense_E276K exm1552480 20 56138720 [T/C] NM_002591 PCK1 EXON Missense_L300F exm1552483 20 56138726 [A/G] NM_002591 PCK1 EXON Missense_G302R exm1552484 20 56138738 [A/G] NM_002591 PCK1 EXON Missense_E306K exm1552485 20 56138744 [A/G] NM_002591 PCK1 EXON Missense_V308I exm1552486 20 56138747 [A/G] NM_002591 PCK1 EXON Missense_G309R exm1552496 20 56139365 [A/G] NM_002591 PCK1 EXON Missense_V368I exm1552508 20 56139630 [T/C] NM_002591 PCK1 EXON Missense_P427S exm1552510 20 56139655 [A/G] NM_002591 PCK1 EXON Missense_G435D exm1552511 20 56139657 [T/C] NM_002591 PCK1 EXON Missense_R436C exm1552515 20 56140096 [T/G] NM_002591 PCK1 EXON Missense_G440V exm1552519 20 56140439 [A/G] NM_002591 PCK1 EXON Missense_R483Q exm1552530 20 56140633 [A/G] NM_002591 PCK1 EXON Missense_A548T exm1969888 20 56140711 [A/G] NM_002591 PCK1 EXON Missense_M574V exm1552534 20 56140726 [A/C] NM_002591 PCK1 EXON Missense_S579R exm1552540 20 56140807 [T/G] NM_002591 PCK1 EXON Missense_C606G exm1552557 20 56179808 [T/C] NM_001160418,NM_001160417,NM_030776 ZBP1,ZBP1,ZBP1 EXON Missense_T296A,Missense_T370A,Missense_T371A exm1552559 20 56179819 [T/C] NM_001160418,NM_001160417,NM_030776 ZBP1,ZBP1,ZBP1 EXON Missense_R292H,Missense_R366H,Missense_R367H exm1552566 20 56185205 [G/C] NM_001160418,NM_001160417,NM_030776 ZBP1,ZBP1,ZBP1 EXON Missense_G290R,Missense_G364R,Missense_G365R exm1552572 20 56185241 [T/C] NM_001160418,NM_001160417,NM_030776 ZBP1,ZBP1,ZBP1 EXON Missense_A278T,Missense_A352T,Missense_A353T exm1552583 20 56185393 [A/G] NM_001160418,NM_001160417,NM_030776 ZBP1,ZBP1,ZBP1 EXON Missense_S227L,Missense_S301L,Missense_S302L exm1552584 20 56185406 [T/C] NM_001160418,NM_001160417,NM_030776 ZBP1,ZBP1,ZBP1 EXON Missense_G223S,Missense_G297S,Missense_G298S exm1552596 20 56186884 [T/C] NM_001160418,NM_001160417,NM_030776 ZBP1,ZBP1,ZBP1 EXON Missense_Q183R,Missense_Q257R,Missense_Q258R exm1552602 20 56186971 [T/C] NM_001160418,NM_001160417,NM_030776 ZBP1,ZBP1,ZBP1 EXON Missense_R154H,Missense_R228H,Missense_R229H exm1552609 20 56188195 [T/C] NM_001160418,NM_001160417,NM_030776,NM_001160419 ZBP1,ZBP1,ZBP1,ZBP1 EXON Silent,Silent,Silent,Missense_G232R exm1552611 20 56188219 [T/C] NM_001160418,NM_001160417,NM_030776,NM_001160419 ZBP1,ZBP1,ZBP1,ZBP1 EXON Missense_G149S,Missense_G223S,Missense_G224S,Missense_G224S exm1552615 20 56188304 [T/G] NM_001160418,NM_001160417,NM_030776,NM_001160419 ZBP1,ZBP1,ZBP1,ZBP1 EXON Missense_N120K,Missense_N194K,Missense_N195K,Missense_N195K exm1552617 20 56188385 [T/C] NM_001160418,NM_001160417,NM_030776,NM_001160419 ZBP1,ZBP1,ZBP1,ZBP1 EXON Synonymous_E93E,Silent,Synonymous_E168E,Synonymous_E168E exm1552618 20 56189948 [T/C] NM_001160418,NM_001160417,NM_030776,NM_001160419 ZBP1,ZBP1,ZBP1,ZBP1 EXON Missense_R91H,Missense_R166H,Missense_R166H,Missense_R166H exm1552621 20 56189985 [C/G] NM_001160418,NM_001160417,NM_030776,NM_001160419 ZBP1,ZBP1,ZBP1,ZBP1 EXON Missense_D79H,Missense_D154H,Missense_D154H,Missense_D154H exm1969912 20 56190012 [A/G] NM_001160418,NM_001160417,NM_030776,NM_001160419 ZBP1,ZBP1,ZBP1,ZBP1 EXON Missense_Y70H,Missense_Y145H,Missense_Y145H,Missense_Y145H exm1552625 20 56190060 [T/C] NM_001160418,NM_001160417,NM_030776,NM_001160419 ZBP1,ZBP1,ZBP1,ZBP1 EXON Missense_A54T,Missense_A129T,Missense_A129T,Missense_A129T exm1552632 20 56190616 [T/C] NM_001160418,NM_001160417,NM_030776,NM_001160419 ZBP1,ZBP1,ZBP1,ZBP1 EXON Missense_A19T,Missense_A94T,Missense_A94T,Missense_A94T exm1552635 20 56191351 [T/C] NM_001160418,NM_001160417,NM_030776,NM_001160419 ZBP1,ZBP1,ZBP1,ZBP1 EXON Silent,Missense_G70R,Missense_G70R,Missense_G70R exm1552637 20 56191360 [A/G] NM_001160418,NM_001160417,NM_030776,NM_001160419 ZBP1,ZBP1,ZBP1,ZBP1 EXON Silent,Missense_C67R,Missense_C67R,Missense_C67R exm1552638 20 56191387 [A/C] NM_001160418,NM_001160417,NM_030776,NM_001160419 ZBP1,ZBP1,ZBP1,ZBP1 EXON Silent,Missense_V58F,Missense_V58F,Missense_V58F exm1552639 20 56191401 [T/C] NM_001160418,NM_001160417,NM_030776,NM_001160419 ZBP1,ZBP1,ZBP1,ZBP1 EXON Silent,Missense_K53R,Missense_K53R,Missense_K53R exm1552640 20 56191407 [T/C] NM_001160418,NM_001160417,NM_030776,NM_001160419 ZBP1,ZBP1,ZBP1,ZBP1 EXON Silent,Missense_R51Q,Missense_R51Q,Missense_R51Q exm1552647 20 56195349 [T/C] NM_001160418,NM_001160417,NM_030776,NM_001160419 ZBP1,ZBP1,ZBP1,ZBP1 EXON Missense_M1I,Missense_M1I,Missense_M1I,Missense_M1I exm1552658 20 56227170 [A/G] NM_199170,NM_020182,NM_199169,NM_001255976,NM_199171 PMEPA1,PMEPA1,PMEPA1,PMEPA1,PMEPA1 EXON Missense_P218L,Missense_P268L,Missense_P233L,Missense_P240L,Missense_P218L exm1552679 20 56227589 [G/C] NM_199170,NM_020182,NM_199169,NM_001255976,NM_199171 PMEPA1,PMEPA1,PMEPA1,PMEPA1,PMEPA1 EXON Missense_E78D,Missense_E128D,Missense_E93D,Missense_E100D,Missense_E78D exm1552693 20 56234624 [T/C] NM_199170,NM_020182,NM_199169,NM_001255976,NM_199171 PMEPA1,PMEPA1,PMEPA1,PMEPA1,PMEPA1 EXON Missense_R30Q,Missense_R80Q,Missense_R45Q,Missense_R52Q,Missense_R30Q exm2260958 20 56450431 [T/C] exm2254345 20 56531928 [A/G] exm1552730 20 56726080 [T/G] NM_178456 C20orf85 EXON Missense_D20E exm1552733 20 56728608 [A/G] NM_178456 C20orf85 EXON Missense_R26H exm1552738 20 56728632 [A/G] NM_178456 C20orf85 EXON Missense_R34Q exm1552739 20 56728654 [C/G] NM_178456 C20orf85 EXON Missense_W41C exm1552740 20 56728670 [A/C] NM_178456 C20orf85 EXON Missense_P47T exm1552741 20 56728671 [T/C] NM_178456 C20orf85 EXON Missense_P47L exm1552746 20 56730588 [A/G] NM_178456 C20orf85 EXON Missense_R72H exm1552747 20 56730594 [A/G] NM_178456 C20orf85 EXON Missense_R74Q exm1552749 20 56735717 [T/G] NM_178456 C20orf85 EXON Missense_V85F exm2275355 20 56735750 [T/C] NM_178456 C20orf85 EXON Nonsense_Q96X exm1552752 20 56735759 [A/G] NM_178456 C20orf85 EXON Missense_I99V exm1552758 20 56735795 [T/C] NM_178456 C20orf85 EXON Missense_C111R exm1552761 20 56735843 [T/C] NM_178456 C20orf85 EXON Nonsense_R127X exm1552762 20 56735844 [A/G] NM_178456 C20orf85 EXON Missense_R127Q exm1552765 20 56735870 [T/G] NM_178456 C20orf85 EXON Missense_V136L exm-rs4811971 20 56796784 [A/G] exm-IND20-56254516 20 56821111 [I/D] NR_003505 PPP4R1L EXON exm2264705 20 56888213 [A/C] NM_020673 RAB22A Silent exm1552838 20 56918853 [C/G] NM_020673 RAB22A EXON Missense_R66G exm1552843 20 56929255 [T/C] NM_020673 RAB22A EXON Missense_H141Y exm1552865 20 57014075 [T/G] NM_001195677,NM_004738,NR_036633 VAPB,VAPB,VAPB EXON Silent,Missense_D130E,Silent exm1552869 20 57016076 [A/G] NM_001195677,NM_004738,NR_036633 VAPB,VAPB,VAPB EXON Silent,Missense_M170I,Silent exm1552871 20 57016117 [A/G] NM_001195677,NM_004738,NR_036633 VAPB,VAPB,VAPB EXON Silent,Missense_R184Q,Silent exm1552875 20 57019226 [T/C] NM_001195677,NM_004738,NR_036633 VAPB,VAPB,VAPB EXON Silent,Missense_R223W,Silent exm1552882 20 57035940 [A/G] NM_153360 APCDD1L EXON Missense_S471L exm1552889 20 57036022 [A/G] NM_153360 APCDD1L EXON Missense_R444C exm1552894 20 57036069 [A/G] NM_153360 APCDD1L EXON Missense_I428T exm1552895 20 57036088 [T/C] NM_153360 APCDD1L EXON Missense_G422R exm1552901 20 57036180 [T/C] NM_153360 APCDD1L EXON Missense_R391Q exm1552904 20 57036249 [A/G] NM_153360 APCDD1L EXON Missense_T368M exm1552913 20 57036310 [T/C] NM_153360 APCDD1L EXON Missense_G348S exm1552914 20 57036313 [T/C] NM_153360 APCDD1L EXON Missense_G347S exm1552920 20 57036364 [A/C] NM_153360 APCDD1L EXON Missense_V330L exm1552924 20 57036381 [T/C] NM_153360 APCDD1L EXON Missense_R324Q exm1552928 20 57036456 [A/G] NM_153360 APCDD1L EXON Missense_T299I exm1552936 20 57036552 [A/G] NM_153360 APCDD1L EXON Missense_P267L exm1552937 20 57036570 [T/C] NM_153360 APCDD1L EXON Missense_R261H exm1552938 20 57036571 [A/G] NM_153360 APCDD1L EXON Missense_R261C exm1552959 20 57042551 [T/C] NM_153360 APCDD1L EXON Missense_V118I exm1552960 20 57042560 [T/C] NM_153360 APCDD1L EXON Missense_A115T exm1552970 20 57042655 [T/C] NM_153360 APCDD1L EXON Missense_R83Q exm1552976 20 57045692 [T/C] NM_153360 APCDD1L EXON Missense_R54H exm1552977 20 57045693 [A/G] NM_153360 APCDD1L EXON Missense_R54C exm1552979 20 57045759 [A/G] NM_153360 APCDD1L EXON Missense_R32C exm1552980 20 57045764 [T/C] NM_153360 APCDD1L EXON Missense_C30Y exm1552981 20 57045765 [A/G] NM_153360 APCDD1L EXON Missense_C30R exm1552984 20 57045791 [A/G] NM_153360 APCDD1L EXON Missense_P21L exm-rs127430 20 57164855 [A/G] NR_034147 APCDD1L-AS1 Silent exm2272943 20 57165395 [T/G] NR_034147 APCDD1L-AS1 Silent exm1552990 20 57227168 [A/C] NM_001001433,NM_001134772,NR_037942,NM_001204868,NM_001134773,NR_037945,NR_037943,NM_003763,NR_037941 STX16,STX16,STX16,STX16,STX16,STX16-NPEPL1,STX16,STX16,STX16 EXON Missense_P36T,Missense_P36T,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm2234638 20 57243062 [A/G] NM_001001433,NM_001134772,NR_037942,NM_001204868,NM_001134773,NR_037945,NR_037943,NM_003763,NR_037941 STX16,STX16,STX16,STX16,STX16,STX16-NPEPL1,STX16,STX16,STX16 EXON Missense_R91Q,Missense_R87Q,Silent,Missense_R38Q,Missense_R74Q,Silent,Silent,Missense_R70Q,Silent exm1553020 20 57245580 [A/G] NM_001001433,NM_001134772,NR_037942,NM_001204868,NM_001134773,NR_037945,NR_037943,NM_003763,NR_037941 STX16,STX16,STX16,STX16,STX16,STX16-NPEPL1,STX16,STX16,STX16 EXON Missense_R190Q,Missense_R186Q,Silent,Missense_R137Q,Missense_R173Q,Silent,Silent,Missense_R169Q,Silent exm1970012 20 57246267 [T/C] NM_001001433,NM_001134772,NR_037942,NM_001204868,NM_001134773,NR_037945,NR_037943,NM_003763,NR_037941 STX16,STX16,STX16,STX16,STX16,STX16-NPEPL1,STX16,STX16,STX16 EXON Missense_R236W,Missense_R232W,Silent,Missense_R183W,Missense_R219W,Silent,Silent,Missense_R215W,Silent exm1553028 20 57246277 [A/G] NM_001001433,NM_001134772,NR_037942,NM_001204868,NM_001134773,NR_037945,NR_037943,NM_003763,NR_037941 STX16,STX16,STX16,STX16,STX16,STX16-NPEPL1,STX16,STX16,STX16 EXON Missense_E239G,Missense_E235G,Silent,Missense_E186G,Missense_E222G,Silent,Silent,Missense_E218G,Silent exm1553045 20 57268803 [G/C] NR_037945,NM_001204872,NM_001204873,NM_024663 STX16-NPEPL1,NPEPL1,NPEPL1,NPEPL1 EXON Silent,Missense_A26G,Missense_A6G,Missense_A54G exm1553069 20 57269646 [T/C] NR_037945,NM_001204872,NM_001204873,NM_024663 STX16-NPEPL1,NPEPL1,NPEPL1,NPEPL1 EXON Silent,Nonsense_Q141X,Nonsense_Q121X,Nonsense_Q169X exm1553071 20 57273761 [A/G] NR_037945,NM_001204872,NM_001204873,NM_024663 STX16-NPEPL1,NPEPL1,NPEPL1,NPEPL1 EXON Silent,Missense_G149S,Missense_G129S,Missense_G177S exm1553081 20 57276073 [A/C] NR_037945,NM_001204872,NM_001204873,NM_024663 STX16-NPEPL1,NPEPL1,NPEPL1,NPEPL1 EXON Silent,Synonymous_G199G,Synonymous_G179G,Synonymous_G227G exm1553097 20 57287542 [A/G] NR_037945,NM_001204872,NM_001204873,NM_024663 STX16-NPEPL1,NPEPL1,NPEPL1,NPEPL1 EXON Silent,Missense_K275R,Missense_K255R,Missense_K303R exm1553098 20 57287548 [A/G] NR_037945,NM_001204872,NM_001204873,NM_024663 STX16-NPEPL1,NPEPL1,NPEPL1,NPEPL1 EXON Silent,Missense_N277S,Missense_N257S,Missense_N305S exm1553127 20 57290335 [A/G] NR_037945,NM_001204872,NM_001204873,NM_024663 STX16-NPEPL1,NPEPL1,NPEPL1,NPEPL1 EXON Silent,Missense_E481K,Missense_E461K,Missense_E509K exm1553130 20 57290347 [G/C] NR_037945,NM_001204872,NM_001204873,NM_024663 STX16-NPEPL1,NPEPL1,NPEPL1,NPEPL1 EXON Silent,Missense_L485V,Missense_L465V,Missense_L513V exm2272911 20 57375450 [T/C] exm1553169 20 57415525 [A/G] NR_002785,NM_016592 GNAS-AS1,GNAS EXON Silent,Missense_E122K exm1970068 20 57415573 [A/G] NR_002785,NM_016592 GNAS-AS1,GNAS EXON Silent,Missense_E138K exm1553182 20 57415876 [A/C] NR_002785,NM_016592 GNAS-AS1,GNAS EXON Silent,Missense_P239T exm1553196 20 57428516 [A/G] NM_016592,NM_001077490,NM_080425 GNAS,GNAS,GNAS EXON Silent,Synonymous_A3A,Missense_E66K exm1553202 20 57428804 [A/G] NM_016592,NM_001077490,NM_080425 GNAS,GNAS,GNAS EXON Silent,Synonymous_L99L,Missense_M162V exm1553204 20 57428820 [A/G] NM_016592,NM_001077490,NM_080425 GNAS,GNAS,GNAS EXON Silent,Missense_T105A,Missense_D167G exm1553206 20 57428845 [T/C] NM_016592,NM_001077490,NM_080425 GNAS,GNAS,GNAS EXON Silent,Missense_V113A,Synonymous_S175S exm1553207 20 57428858 [T/C] NM_016592,NM_001077490,NM_080425 GNAS,GNAS,GNAS EXON Silent,Synonymous_Y117Y,Nonsense_Q180X exm1553211 20 57428947 [A/G] NM_016592,NM_001077490,NM_080425 GNAS,GNAS,GNAS EXON Silent,Missense_R147K,Synonymous_K209K exm1553214 20 57428998 [T/G] NM_016592,NM_001077490,NM_080425 GNAS,GNAS,GNAS EXON Silent,Missense_L164W,Missense_F226L exm1553222 20 57429174 [T/C] NM_016592,NM_001077490,NM_080425 GNAS,GNAS,GNAS EXON Silent,Missense_P223S,Missense_S285F exm1553223 20 57429217 [A/C] NM_016592,NM_001077490,NM_080425 GNAS,GNAS,GNAS EXON Silent,Missense_A237D,Missense_S299R exm1553235 20 57429447 [T/C] NM_016592,NM_001077490,NM_080425 GNAS,GNAS,GNAS EXON Silent,Missense_R314W,Missense_P376L exm1553242 20 57429541 [C/G] NM_016592,NM_001077490,NM_080425 GNAS,GNAS,GNAS EXON Silent,Missense_P345R,Synonymous_T407T exm1553245 20 57429568 [A/C] NM_016592,NM_001077490,NM_080425 GNAS,GNAS,GNAS EXON Silent,Missense_H354P,Synonymous_A416A exm1553271 20 57430117 [T/C] NM_016592,NM_001077490,NM_080425 GNAS,GNAS,GNAS EXON Silent,Missense_A537V,Synonymous_R599R exm1553272 20 57430118 [G/C] NM_016592,NM_001077490,NM_080425 GNAS,GNAS,GNAS EXON Silent,Synonymous_A537A,Missense_R600G exm1553275 20 57430180 [C/G] NM_016592,NM_001077490,NM_080425 GNAS,GNAS,GNAS EXON Silent,Missense_S558W,Missense_F620L exm1553277 20 57430243 [C/G] NM_016592,NM_001077490,NM_080425 GNAS,GNAS,GNAS EXON Silent,Missense_W579S,Synonymous_L641L exm1553279 20 57430300 [T/C] NM_016592,NM_001077490,NM_080425 GNAS,GNAS,GNAS EXON Silent,Missense_A598V,Synonymous_R660R exm1553301 20 57474013 [T/C] NM_016592,NM_001077490,NM_080425,NR_003259,NM_000516,NM_001077489,NM_001077488,NM_080426 GNAS,GNAS,GNAS,GNAS,GNAS,GNAS,GNAS,GNAS EXON Silent,Silent,Missense_P720L,Silent,Missense_P77L,Silent,Missense_P77L,Silent exm-rs13831 20 57475191 [A/G] NM_016592,NM_001077490,NM_080425,NR_003259,NM_000516,NM_001077489,NM_001077488,NM_080426 GNAS,GNAS,GNAS,GNAS,GNAS,GNAS,GNAS,GNAS Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm1553316 20 57478846 [T/C] NM_016592,NM_001077490,NM_080425,NR_003259,NM_000516,NM_001077489,NM_001077488,NM_080426 GNAS,GNAS,GNAS,GNAS,GNAS,GNAS,GNAS,GNAS EXON Silent,Silent,Synonymous_P787P,Silent,Synonymous_P144P,Synonymous_P129P,Synonymous_P145P,Synonymous_P130P exm1553328 20 57484633 [T/C] NM_016592,NM_001077490,NM_080425,NR_003259,NM_000516,NM_001077489,NM_001077488,NM_080426 GNAS,GNAS,GNAS,GNAS,GNAS,GNAS,GNAS,GNAS EXON Silent,Silent,Synonymous_N882N,Silent,Synonymous_N239N,Synonymous_N224N,Synonymous_N240N,Synonymous_N225N exm1553352 20 57561221 [A/G] NM_198976 NELFCD EXON Missense_R63Q exm1553358 20 57562859 [C/G] NM_198976 NELFCD EXON Missense_T146S exm1553369 20 57564695 [T/C] NM_198976 NELFCD EXON Synonymous_A237A exm1553390 20 57566433 [A/C] NM_198976 NELFCD EXON Missense_Q359K exm1970138 20 57566946 [T/C] NM_198976 NELFCD EXON Missense_V385A exm1553451 20 57571788 [A/G] NM_001336 CTSZ EXON Missense_T236I exm1553454 20 57571818 [G/C] NM_001336 CTSZ EXON Missense_T226S exm1553463 20 57572709 [A/G] NM_001336 CTSZ EXON Missense_L196P exm1553471 20 57572776 [T/C] NM_001336 CTSZ EXON Missense_N174D exm1553481 20 57576696 [T/C] NM_001336 CTSZ EXON Missense_R104Q exm1553501 20 57594590 [A/G] NM_030773 TUBB1 EXON Missense_V5I exm1553513 20 57597954 [A/G] NM_030773 TUBB1 EXON Missense_G38R exm1553517 20 57597971 [C/G] NM_030773 TUBB1 EXON Missense_Q43H exm1553527 20 57598640 [A/G] NM_030773 TUBB1 EXON Missense_D88N exm1553531 20 57598808 [A/G] NM_030773 TUBB1 EXON Missense_G109E exm1553535 20 57598822 [A/G] NM_030773 TUBB1 EXON Missense_E114K exm1553538 20 57598870 [G/C] NM_030773 TUBB1 EXON Missense_L130V exm1553551 20 57599036 [T/C] NM_030773 TUBB1 EXON Missense_A185V exm1553553 20 57599060 [T/C] NM_030773 TUBB1 EXON Missense_I193T exm1553555 20 57599074 [A/G] NM_030773 TUBB1 EXON Missense_A198T exm1553558 20 57599120 [A/G] NM_030773 TUBB1 EXON Missense_R213H exm1553560 20 57599149 [A/G] NM_030773 TUBB1 EXON Missense_G223R exm1553579 20 57599398 [T/C] NM_030773 TUBB1 EXON Missense_R306C exm1553580 20 57599401 [T/C] NM_030773 TUBB1 EXON Missense_R307C exm1553581 20 57599402 [A/G] NM_030773 TUBB1 EXON Missense_R307H exm1553587 20 57599527 [A/G] NM_030773 TUBB1 EXON Missense_V349I exm2234644 20 57599645 [T/C] NM_030773 TUBB1 EXON Missense_M388T exm1970185 20 57599684 [T/A] NM_030773 TUBB1 EXON Missense_E401V exm1553598 20 57599824 [A/G] NM_030773 TUBB1 EXON Missense_D448N exm1553603 20 57605431 [T/G] NM_006886,NR_037929,NR_037930 ATP5E,SLMO2-ATP5E,SLMO2-ATP5E EXON Missense_T29K,Silent,Silent exm1553605 20 57605463 [G/C] NM_006886,NR_037929,NR_037930 ATP5E,SLMO2-ATP5E,SLMO2-ATP5E EXON Missense_I18M,Silent,Silent exm1553628 20 57612316 [A/G] NR_037929,NR_037930,NM_001256403,NM_016045 SLMO2-ATP5E,SLMO2-ATP5E,SLMO2,SLMO2 EXON Silent,Silent,Silent,Missense_T74M exm1553629 20 57612336 [G/C] NR_037929,NR_037930,NM_001256403,NM_016045 SLMO2-ATP5E,SLMO2-ATP5E,SLMO2,SLMO2 Silent,Silent,Silent,Silent exm-rs16982520 20 57758720 [A/G] exm1553664 20 57766405 [G/C] NM_178457 ZNF831 EXON Missense_P111A exm1553668 20 57766466 [T/C] NM_178457 ZNF831 EXON Missense_T131M exm1553674 20 57766673 [T/C] NM_178457 ZNF831 EXON Missense_S200F exm1553692 20 57767132 [T/C] NM_178457 ZNF831 EXON Missense_A353V exm1553698 20 57767371 [A/G] NM_178457 ZNF831 EXON Missense_G433R exm1553700 20 57767398 [A/C] NM_178457 ZNF831 EXON Missense_L442M exm1553701 20 57767402 [T/C] NM_178457 ZNF831 EXON Missense_P443L exm1553725 20 57767849 [T/C] NM_178457 ZNF831 EXON Missense_A592V exm1553730 20 57767939 [T/G] NM_178457 ZNF831 EXON Missense_V622G exm1553732 20 57767960 [A/G] NM_178457 ZNF831 EXON Missense_K629R exm1553744 20 57768239 [A/G] NM_178457 ZNF831 EXON Missense_R722Q exm1553755 20 57768595 [A/G] NM_178457 ZNF831 EXON Missense_A841T exm1553756 20 57768607 [C/G] NM_178457 ZNF831 EXON Missense_G845R exm1553760 20 57768655 [A/G] NM_178457 ZNF831 EXON Missense_D861N exm1553763 20 57768704 [T/G] NM_178457 ZNF831 EXON Missense_G877V exm1553765 20 57768743 [T/C] NM_178457 ZNF831 EXON Missense_A890V exm1553769 20 57768953 [A/C] NM_178457 ZNF831 EXON Missense_P960Q exm1553773 20 57769000 [T/C] NM_178457 ZNF831 EXON Missense_R976W exm1553774 20 57769003 [T/G] NM_178457 ZNF831 EXON Missense_A977S exm1553778 20 57769076 [T/C] NM_178457 ZNF831 EXON Missense_A1001V exm1553781 20 57769140 [C/G] NM_178457 ZNF831 EXON Missense_L1022F exm1553785 20 57769238 [T/C] NM_178457 ZNF831 EXON Missense_P1055L exm1553787 20 57769291 [T/C] NM_178457 ZNF831 EXON Missense_H1073Y exm1553806 20 57769552 [T/C] NM_178457 ZNF831 EXON Missense_R1160W exm1553825 20 57769739 [A/G] NM_178457 ZNF831 EXON Missense_N1222S exm1553829 20 57769774 [T/A] NM_178457 ZNF831 EXON Missense_T1234S exm1553835 20 57770966 [A/G] NM_178457 ZNF831 EXON Missense_V1261M exm1553838 20 57782012 [T/C] NM_178457 ZNF831 EXON Missense_R1310C exm1553839 20 57782013 [A/G] NM_178457 ZNF831 EXON Missense_R1310H exm1553840 20 57782031 [A/G] NM_178457 ZNF831 EXON Missense_R1316Q exm-rs12625057 20 57790436 [A/C] NM_178457 ZNF831 Silent exm1553852 20 57829166 [G/C] NM_178457 ZNF831 EXON Missense_D1468H exm1553857 20 57829301 [T/C] NM_178457 ZNF831 EXON Missense_S1513P exm1553860 20 57829527 [T/C] NM_178457 ZNF831 EXON Missense_T1588M exm1553874 20 57875916 [A/G] NM_207033,NM_207032,NM_000114,NM_207034 EDN3,EDN3,EDN3,EDN3 EXON Missense_A17T,Missense_A17T,Missense_A17T,Missense_A17T exm1553910 20 57899467 [A/G] NM_207033,NM_207032,NM_000114,NM_207034 EDN3,EDN3,EDN3,EDN3 EXON Missense_A210T,Silent,Missense_A224T,Missense_A224T exm1553911 20 57899486 [A/G] NM_207033,NM_207032,NM_000114,NM_207034 EDN3,EDN3,EDN3,EDN3 EXON Missense_R216H,Silent,Missense_R230H,Missense_R230H exm-rs1877751 20 57967906 [A/G] exm2268315 20 58071371 [A/G] exm1553937 20 58330276 [A/G] NM_001199505,NM_080672,NM_001199506,NM_183244,NM_183246 PHACTR3,PHACTR3,PHACTR3,PHACTR3,PHACTR3 EXON Missense_R130Q,Missense_R133Q,Missense_R92Q,Missense_R92Q,Missense_R92Q exm1553938 20 58330287 [A/G] NM_001199505,NM_080672,NM_001199506,NM_183244,NM_183246 PHACTR3,PHACTR3,PHACTR3,PHACTR3,PHACTR3 EXON Missense_S134G,Missense_S137G,Missense_S96G,Missense_S96G,Missense_S96G exm2234649 20 58330339 [T/C] NM_001199505,NM_080672,NM_001199506,NM_183244,NM_183246 PHACTR3,PHACTR3,PHACTR3,PHACTR3,PHACTR3 EXON Missense_P151L,Missense_P154L,Missense_P113L,Missense_P113L,Missense_P113L exm1553943 20 58330363 [T/C] NM_001199505,NM_080672,NM_001199506,NM_183244,NM_183246 PHACTR3,PHACTR3,PHACTR3,PHACTR3,PHACTR3 EXON Missense_T159M,Missense_T162M,Missense_T121M,Missense_T121M,Missense_T121M exm1553947 20 58330382 [A/C] NM_001199505,NM_080672,NM_001199506,NM_183244,NM_183246 PHACTR3,PHACTR3,PHACTR3,PHACTR3,PHACTR3 EXON Missense_D165E,Missense_D168E,Missense_D127E,Missense_D127E,Missense_D127E exm1553957 20 58342349 [T/C] NM_001199505,NM_080672,NM_001199506,NM_183244,NM_183246 PHACTR3,PHACTR3,PHACTR3,PHACTR3,PHACTR3 EXON Missense_P214L,Missense_P217L,Missense_P176L,Missense_P176L,Silent exm1970292 20 58342372 [A/G] NM_001199505,NM_080672,NM_001199506,NM_183244,NM_183246 PHACTR3,PHACTR3,PHACTR3,PHACTR3,PHACTR3 EXON Missense_V222M,Missense_V225M,Missense_V184M,Missense_V184M,Silent exm1553965 20 58342409 [T/C] NM_001199505,NM_080672,NM_001199506,NM_183244,NM_183246 PHACTR3,PHACTR3,PHACTR3,PHACTR3,PHACTR3 EXON Missense_P234L,Missense_P237L,Missense_P196L,Missense_P196L,Silent exm1553966 20 58342420 [A/G] NM_001199505,NM_080672,NM_001199506,NM_183244,NM_183246 PHACTR3,PHACTR3,PHACTR3,PHACTR3,PHACTR3 EXON Missense_A238T,Missense_A241T,Missense_A200T,Missense_A200T,Silent exm1553969 20 58348343 [T/C] NM_001199505,NM_080672,NM_001199506,NM_183244,NM_183246 PHACTR3,PHACTR3,PHACTR3,PHACTR3,PHACTR3 EXON Missense_T251I,Missense_T254I,Missense_T213I,Missense_T213I,Missense_T143I exm1553971 20 58348387 [T/C] NM_001199505,NM_080672,NM_001199506,NM_183244,NM_183246 PHACTR3,PHACTR3,PHACTR3,PHACTR3,PHACTR3 EXON Missense_R266W,Missense_R269W,Missense_R228W,Missense_R228W,Missense_R158W exm2234650 20 58348391 [A/G] NM_001199505,NM_080672,NM_001199506,NM_183244,NM_183246 PHACTR3,PHACTR3,PHACTR3,PHACTR3,PHACTR3 EXON Missense_G267D,Missense_G270D,Missense_G229D,Missense_G229D,Missense_G159D exm1553976 20 58348430 [A/C] NM_001199505,NM_080672,NM_001199506,NM_183244,NM_183246 PHACTR3,PHACTR3,PHACTR3,PHACTR3,PHACTR3 EXON Missense_T280K,Missense_T283K,Missense_T242K,Missense_T242K,Missense_T172K exm1553982 20 58348474 [A/C] NM_001199505,NM_080672,NM_001199506,NM_183244,NM_183246 PHACTR3,PHACTR3,PHACTR3,PHACTR3,PHACTR3 EXON Missense_H295N,Missense_H298N,Missense_H257N,Missense_H257N,Missense_H187N exm1553993 20 58349368 [A/G] NM_001199505,NM_080672,NM_001199506,NM_183244,NM_183246 PHACTR3,PHACTR3,PHACTR3,PHACTR3,PHACTR3 EXON Missense_V330M,Missense_V333M,Missense_V292M,Missense_V292M,Missense_V222M exm1553994 20 58349375 [A/G] NM_001199505,NM_080672,NM_001199506,NM_183244,NM_183246 PHACTR3,PHACTR3,PHACTR3,PHACTR3,PHACTR3 EXON Missense_R332Q,Missense_R335Q,Missense_R294Q,Missense_R294Q,Missense_R224Q exm2260960 20 58405220 [A/G] NM_001199505,NM_080672,NM_001199506,NM_183244,NM_183246 PHACTR3,PHACTR3,PHACTR3,PHACTR3,PHACTR3 Silent,Silent,Silent,Silent,Silent exm1554020 20 58411580 [A/C] NM_001199505,NM_080672,NM_001199506,NM_183244,NM_183246 PHACTR3,PHACTR3,PHACTR3,PHACTR3,PHACTR3 EXON Missense_A447D,Missense_A450D,Missense_A409D,Missense_A409D,Missense_A339D exm1554042 20 58440630 [T/C] NM_014258 SYCP2 EXON Missense_E1486K exm1554055 20 58441613 [A/G] NM_014258 SYCP2 EXON Missense_T1386M exm1554056 20 58441644 [T/C] NM_014258 SYCP2 EXON Missense_I1376V exm1554059 20 58442796 [A/C] NM_014258 SYCP2 EXON Missense_R1365S exm1554064 20 58442888 [A/G] NM_014258 SYCP2 EXON Missense_S1335P exm1554070 20 58444852 [C/G] NM_014258 SYCP2 Silent exm1554074 20 58448924 [T/C] NM_014258 SYCP2 EXON Missense_R1181Q exm1554080 20 58449030 [A/G] NM_014258 SYCP2 EXON Missense_L1146F exm1554081 20 58449050 [A/G] NM_014258 SYCP2 EXON Missense_P1139L exm1554098 20 58452567 [A/G] NM_014258 SYCP2 EXON Missense_P1008L exm1554099 20 58452582 [A/G] NM_014258 SYCP2 EXON Missense_M1003T exm1554100 20 58452594 [A/G] NM_014258 SYCP2 EXON Missense_I999T exm1554105 20 58455414 [T/C] NM_014258 SYCP2 EXON Missense_Q962R exm1554109 20 58455447 [A/G] NM_014258 SYCP2 EXON Missense_I951T exm1554110 20 58455451 [T/C] NM_014258 SYCP2 EXON Missense_D950N exm2234653 20 58456076 [A/G] NM_014258 SYCP2 EXON Missense_V906A exm1554117 20 58457153 [A/G] NM_014258 SYCP2 EXON Missense_P866L exm1554118 20 58457181 [T/C] NM_014258 SYCP2 EXON Missense_T857A exm1554122 20 58461802 [T/C] NM_014258 SYCP2 EXON Missense_I818V exm1554123 20 58461820 [T/A] NM_014258 SYCP2 EXON Missense_Y812N exm1554124 20 58461828 [T/C] NM_014258 SYCP2 EXON Missense_N809S exm1554133 20 58467097 [T/G] NM_014258 SYCP2 EXON Missense_E771A exm1554135 20 58467101 [T/C] NM_014258 SYCP2 EXON Missense_A770T exm1554138 20 58467157 [A/G] NM_014258 SYCP2 EXON Missense_T751I exm1554142 20 58467289 [T/C] NM_014258 SYCP2 EXON Missense_N707S exm1554143 20 58467377 [T/C] NM_014258 SYCP2 EXON Missense_D678N exm1554158 20 58468636 [T/C] NM_014258 SYCP2 EXON Missense_A560T exm1554167 20 58471544 [T/C] NM_014258 SYCP2 EXON Missense_M482V exm2234654 20 58475252 [T/C] NM_014258 SYCP2 EXON Missense_K449E exm1554176 20 58475869 [C/G] NM_014258 SYCP2 EXON Missense_S396C exm1554179 20 58476727 [T/G] NM_014258 SYCP2 EXON Missense_T391N exm1554183 20 58476811 [T/C] NM_014258 SYCP2 EXON Missense_S363N exm1554184 20 58476841 [T/G] NM_014258 SYCP2 EXON Missense_T353K exm1554185 20 58476862 [T/C] NM_014258 SYCP2 EXON Missense_R346K exm1554192 20 58489038 [C/G] NM_014258 SYCP2 EXON Missense_D274E exm1554199 20 58490540 [T/G] NM_014258 SYCP2 EXON Missense_N193K exm1554200 20 58490541 [T/C] NM_014258 SYCP2 EXON Missense_N193S exm1554202 20 58490556 [T/C] NM_014258 SYCP2 EXON Missense_R188Q exm1554211 20 58494645 [A/G] NM_014258 SYCP2 EXON Missense_A102V exm1554213 20 58495442 [A/G] NM_014258 SYCP2 EXON Missense_T90M exm1554214 20 58495463 [A/G] NM_014258 SYCP2 EXON Missense_L83S exm1554219 20 58496438 [A/G] NM_014258 SYCP2 EXON Missense_I32T exm1554220 20 58496439 [T/C] NM_014258 SYCP2 EXON Missense_I32V exm1554246 20 58514445 [T/C] NM_001190826,NM_006242 FAM217B,PPP1R3D EXON Silent,Missense_R181H exm1554247 20 58514466 [T/C] NM_001190826,NM_006242 FAM217B,PPP1R3D EXON Silent,Missense_R174Q exm1554248 20 58514494 [T/C] NM_001190826,NM_006242 FAM217B,PPP1R3D EXON Silent,Missense_A165T exm1554256 20 58514677 [A/G] NM_001190826,NM_006242 FAM217B,PPP1R3D EXON Silent,Missense_R104C exm1554265 20 58519174 [A/G] NM_001190826,NM_001190827,NM_022106 FAM217B,FAM217B,FAM217B EXON Missense_K59R,Silent,Missense_K59R exm1554268 20 58519203 [A/G] NM_001190826,NM_001190827,NM_022106 FAM217B,FAM217B,FAM217B EXON Missense_G69R,Silent,Missense_G69R exm1554270 20 58519377 [T/G] NM_001190826,NM_001190827,NM_022106 FAM217B,FAM217B,FAM217B EXON Missense_F127V,Silent,Missense_F127V exm1554274 20 58519488 [A/G] NM_001190826,NM_001190827,NM_022106 FAM217B,FAM217B,FAM217B EXON Missense_A164T,Missense_A7T,Missense_A164T exm1554275 20 58519501 [T/C] NM_001190826,NM_001190827,NM_022106 FAM217B,FAM217B,FAM217B EXON Missense_T168M,Missense_T11M,Missense_T168M exm1554283 20 58519657 [A/G] NM_001190826,NM_001190827,NM_022106 FAM217B,FAM217B,FAM217B EXON Missense_S220N,Missense_S63N,Missense_S220N exm1554284 20 58519699 [T/C] NM_001190826,NM_001190827,NM_022106 FAM217B,FAM217B,FAM217B EXON Missense_P234L,Missense_P77L,Missense_P234L exm1554297 20 58519926 [A/G] NM_001190826,NM_001190827,NM_022106 FAM217B,FAM217B,FAM217B EXON Missense_G310S,Missense_G153S,Missense_G310S exm1970429 20 58519959 [A/G] NM_001190826,NM_001190827,NM_022106 FAM217B,FAM217B,FAM217B EXON Missense_G321S,Missense_G164S,Missense_G321S exm1554298 20 58519965 [A/G] NM_001190826,NM_001190827,NM_022106 FAM217B,FAM217B,FAM217B EXON Missense_I323V,Missense_I166V,Missense_I323V exm1554316 20 58545197 [A/C] NM_177980 CDH26 EXON Missense_L63M exm1554329 20 58547177 [A/C] NM_177980 CDH26 EXON Missense_T131K exm1554330 20 58557976 [A/G] NM_177980 CDH26 Silent exm1554331 20 58557999 [T/C] NM_177980 CDH26 EXON Missense_R139C exm1554332 20 58558000 [A/G] NM_177980 CDH26 EXON Missense_R139H exm1554333 20 58558015 [T/C] NM_177980 CDH26 EXON Missense_I144T exm1554339 20 58558126 [A/G] NM_177980 CDH26 Silent exm1554343 20 58559759 [T/C] NM_177980 CDH26 EXON Missense_L203F exm1554344 20 58559807 [T/C] NM_177980 CDH26 EXON Missense_R219W exm1554347 20 58559852 [T/G] NM_177980 CDH26 EXON Missense_D234Y exm1970447 20 58560057 [T/C] NM_177980 CDH26 EXON Missense_T237I exm1554351 20 58560080 [A/G] NM_177980 CDH26 EXON Missense_I245V exm1554352 20 58560086 [T/G] NM_177980 CDH26 EXON Missense_A247S exm1554355 20 58560120 [T/C] NM_177980 CDH26 EXON Missense_T258M exm1970448 20 58560168 [A/C] NM_177980 CDH26 EXON Missense_A274E exm1554362 20 58562571 [C/G] NM_177980 CDH26 EXON Missense_R301G exm1554367 20 58562673 [A/G] NM_177980 CDH26 EXON Missense_G335R exm1554384 20 58564146 [A/G] NM_177980 CDH26 EXON Missense_N404S exm1554395 20 58567492 [T/C] NM_177980 CDH26 EXON Missense_V448A exm1554397 20 58567528 [A/G] NM_177980 CDH26 EXON Missense_H460R exm2234659 20 58569365 [A/G] NM_177980 CDH26 EXON Missense_N496S exm1554401 20 58569421 [T/C] NM_177980 CDH26 EXON Missense_H515Y exm2254351 20 58569501 [T/C] NM_177980 CDH26 EXON Synonymous_T541T exm1554411 20 58570995 [A/G] NM_177980 CDH26 EXON Missense_V592I exm1554414 20 58571064 [T/G] NM_177980 CDH26 EXON Missense_V615L exm1554424 20 58571706 [T/C] NM_177980,NM_021810 CDH26,CDH26 EXON Nonsense_R637X,Silent exm1554430 20 58571793 [A/G] NM_177980,NM_021810 CDH26,CDH26 EXON Missense_E666K,Silent exm1554440 20 58576432 [A/G] NM_177980,NM_021810 CDH26,CDH26 EXON Missense_Q711R,Missense_Q44R exm1554442 20 58576434 [T/G] NM_177980,NM_021810 CDH26,CDH26 EXON Missense_S712A,Missense_S45A exm1554445 20 58576466 [A/G] NM_177980,NM_021810 CDH26,CDH26 EXON Nonsense_W722X,Nonsense_W55X exm1554448 20 58577908 [T/C] NM_177980,NM_021810 CDH26,CDH26 EXON Missense_I736T,Missense_I69T exm1554449 20 58577923 [T/C] NM_177980,NM_021810 CDH26,CDH26 Silent,Silent exm1554450 20 58581768 [G/C] NM_177980,NM_021810 CDH26,CDH26 EXON Missense_A741P,Missense_A74P exm1554459 20 58587603 [G/C] NM_177980,NM_021810 CDH26,CDH26 EXON Missense_L773V,Missense_L106V exm1554463 20 58587633 [A/G] NM_177980,NM_021810 CDH26,CDH26 EXON Missense_V783I,Missense_V116I exm1554466 20 58587708 [T/C] NM_177980,NM_021810 CDH26,CDH26 EXON Missense_P808S,Missense_P141S exm1554467 20 58587729 [A/G] NM_177980,NM_021810 CDH26,CDH26 EXON Missense_G815S,Missense_G148S exm1554469 20 58587739 [T/C] NM_177980,NM_021810 CDH26,CDH26 EXON Missense_A818V,Missense_A151V exm2254352 20 58587746 [A/G] NM_177980,NM_021810 CDH26,CDH26 EXON Synonymous_P820P,Synonymous_P153P exm1554482 20 58645727 [A/G] NM_173644 C20orf197 EXON Missense_A49T exm1554485 20 58645848 [T/C] NM_173644 C20orf197 EXON Missense_V89A exm1554488 20 58645895 [A/G] NM_173644 C20orf197 EXON Missense_N105D exm2260961 20 58686368 [A/G] exm2272912 20 58711935 [T/C] exm-rs487656 20 58790814 [A/G] NR_046099 LOC284757 Silent exm2272913 20 59095407 [T/C] exm-rs237655 20 59523840 [A/G] exm2264715 20 59777873 [A/C] exm2272914 20 59829847 [T/C] NM_001794 CDH4 Silent exm1554512 20 59829904 [T/C] NM_001794 CDH4 EXON Missense_T27I exm1554513 20 59829921 [A/G] NM_001794 CDH4 EXON Missense_A33T exm-rs4468878 20 59928237 [T/C] NM_001794 CDH4 Silent exm-rs4925189 20 59947044 [A/G] NM_001794 CDH4 Silent exm2268316 20 60091406 [A/G] NM_001794,NM_001252338 CDH4,CDH4 Silent,Silent exm-rs2024714 20 60212494 [T/C] NM_001794,NM_001252338,NM_001252339 CDH4,CDH4,CDH4 Silent,Silent,Silent exm-rs944260 20 60243411 [A/G] NM_001794,NM_001252338,NM_001252339 CDH4,CDH4,CDH4 Silent,Silent,Silent exm1554547 20 60318823 [C/G] NM_001794,NM_001252338,NM_001252339 CDH4,CDH4,CDH4 EXON Missense_S125W,Missense_S88W,Missense_S51W exm1554550 20 60348084 [T/C] NM_001794,NM_001252338,NM_001252339 CDH4,CDH4,CDH4 EXON Missense_A141V,Missense_A104V,Missense_A67V exm1554572 20 60427918 [G/C] NM_001794,NM_001252338,NM_001252339 CDH4,CDH4,CDH4 EXON Missense_V281L,Missense_V244L,Missense_V207L exm2254360 20 60448938 [A/G] NM_001794,NM_001252338,NM_001252339 CDH4,CDH4,CDH4 EXON Synonymous_A344A,Synonymous_A307A,Synonymous_A270A exm1554593 20 60470057 [T/C] NM_001794,NM_001252338,NM_001252339 CDH4,CDH4,CDH4 EXON Missense_T381M,Missense_T344M,Missense_T307M exm1554595 20 60470068 [A/G] NM_001794,NM_001252338,NM_001252339 CDH4,CDH4,CDH4 EXON Missense_V385M,Missense_V348M,Missense_V311M exm1554598 20 60470103 [A/G] NM_001794,NM_001252338,NM_001252339 CDH4,CDH4,CDH4 EXON Synonymous_T396T,Synonymous_T359T,Synonymous_T322T exm1554605 20 60485581 [A/G] NM_001794,NM_001252338,NM_001252339 CDH4,CDH4,CDH4 EXON Missense_R431H,Missense_R394H,Missense_R357H exm1554613 20 60485640 [A/G] NM_001794,NM_001252338,NM_001252339 CDH4,CDH4,CDH4 EXON Missense_E451K,Missense_E414K,Missense_E377K exm1554614 20 60485648 [C/G] NM_001794,NM_001252338,NM_001252339 CDH4,CDH4,CDH4 EXON Missense_M453I,Missense_M416I,Missense_M379I exm1554626 20 60498701 [A/G] NM_001794,NM_001252338,NM_001252339 CDH4,CDH4,CDH4 EXON Missense_G523S,Missense_G486S,Missense_G449S exm1554634 20 60499457 [T/C] NM_001794,NM_001252338,NM_001252339 CDH4,CDH4,CDH4 EXON Missense_T565M,Missense_T528M,Missense_T491M exm1554647 20 60503350 [A/G] NM_001794,NM_001252338,NM_001252339 CDH4,CDH4,CDH4 EXON Missense_K625R,Missense_K588R,Missense_K551R exm1554652 20 60503397 [A/G] NM_001794,NM_001252338,NM_001252339 CDH4,CDH4,CDH4 EXON Missense_D641N,Missense_D604N,Missense_D567N exm1554660 20 60503443 [A/C] NM_001794,NM_001252338,NM_001252339 CDH4,CDH4,CDH4 EXON Missense_A656E,Missense_A619E,Missense_A582E exm1554662 20 60503448 [A/G] NM_001794,NM_001252338,NM_001252339 CDH4,CDH4,CDH4 EXON Missense_V658M,Missense_V621M,Missense_V584M exm1554664 20 60503480 [T/C] NM_001794,NM_001252338,NM_001252339 CDH4,CDH4,CDH4 EXON Synonymous_N668N,Synonymous_N631N,Synonymous_N594N exm1554665 20 60503481 [A/G] NM_001794,NM_001252338,NM_001252339 CDH4,CDH4,CDH4 EXON Missense_G669S,Missense_G632S,Missense_G595S exm1554675 20 60504810 [A/G] NM_001794,NM_001252338,NM_001252339 CDH4,CDH4,CDH4 EXON Missense_G717R,Missense_G680R,Missense_G643R exm1554683 20 60504867 [A/G] NM_001794,NM_001252338,NM_001252339 CDH4,CDH4,CDH4 EXON Missense_V736M,Missense_V699M,Missense_V662M exm1554689 20 60508133 [A/G] NM_001794,NM_001252338,NM_001252339 CDH4,CDH4,CDH4 EXON Missense_R777H,Missense_R740H,Missense_R703H exm1554706 20 60509244 [T/C] NM_001794,NM_001252338,NM_001252339 CDH4,CDH4,CDH4 EXON Missense_P837L,Missense_P800L,Missense_P763L exm1554708 20 60509253 [C/G] NM_001794,NM_001252338,NM_001252339 CDH4,CDH4,CDH4 EXON Missense_G840A,Missense_G803A,Missense_G766A exm1554710 20 60509261 [A/G] NM_001794,NM_001252338,NM_001252339 CDH4,CDH4,CDH4 EXON Missense_G843S,Missense_G806S,Missense_G769S exm1554716 20 60511823 [T/C] NM_001794,NM_001252338,NM_001252339 CDH4,CDH4,CDH4 EXON Missense_T858M,Missense_T821M,Missense_T784M exm2273583 20 60550975 [T/G] NM_003185 TAF4 EXON Silent exm1554739 20 60551270 [T/C] NM_003185 TAF4 EXON Missense_R1071H exm1554807 20 60585103 [A/G] NM_003185 TAF4 EXON Missense_T587M exm1554816 20 60587876 [T/C] NM_003185 TAF4 EXON Missense_V546I exm1554825 20 60589652 [T/C] NM_003185 TAF4 EXON Missense_R491H exm1554852 20 60640232 [A/G] NM_003185 TAF4 EXON Missense_A212V exm1554864 20 60699715 [T/C] NM_144703 LSM14B EXON Missense_A57V exm1554875 20 60704910 [G/C] NM_144703 LSM14B EXON Missense_A166G exm1554878 20 60704940 [A/C] NM_144703 LSM14B EXON Missense_P176H exm1554881 20 60704972 [A/G] NM_144703 LSM14B EXON Missense_G187S exm1554885 20 60705007 [T/C] NM_144703 LSM14B EXON Synonymous_S198S exm1554896 20 60706477 [A/G] NM_144703 LSM14B EXON Missense_A301T exm2272944 20 60723988 [T/C] NM_198935 SS18L1 Silent exm2254362 20 60733736 [T/C] NM_198935 SS18L1 EXON Synonymous_D26D exm1970822 20 60736519 [T/C] NM_198935 SS18L1 EXON Missense_P87S exm1554960 20 60736600 [T/C] NM_198935 SS18L1 EXON Missense_P114S exm1554991 20 60738615 [A/G] NM_198935 SS18L1 EXON Missense_G220S exm1555010 20 60747782 [A/G] NM_198935 SS18L1 EXON Missense_A321T exm1555012 20 60747785 [A/G] NM_198935 SS18L1 EXON Missense_A322T exm1555019 20 60749658 [A/G] NM_198935 SS18L1 EXON Synonymous_T374T exm2254363 20 60749658 [A/G] NM_198935 SS18L1 EXON Synonymous_T374T exm1555029 20 60768573 [T/C] NM_015666 GTPBP5 EXON Missense_R33W exm1555036 20 60768615 [A/G] NM_015666 GTPBP5 EXON Missense_G47S exm1555041 20 60770931 [A/G] NM_015666 GTPBP5 EXON Missense_H93R exm1555046 20 60772923 [A/G] NM_015666 GTPBP5 EXON Missense_K123R exm1555052 20 60772998 [A/G] NM_015666 GTPBP5 EXON Missense_R148H exm1555056 20 60773009 [A/G] NM_015666 GTPBP5 EXON Missense_V152I exm1555069 20 60773769 [T/C] NM_015666 GTPBP5 EXON Missense_A183V exm1555077 20 60773889 [T/C] NM_015666 GTPBP5 EXON Missense_T223M exm1555083 20 60774190 [A/G] NM_015666 GTPBP5 EXON Missense_A235T exm1555085 20 60774193 [A/G] NM_015666 GTPBP5 EXON Missense_G236R exm1555091 20 60774238 [A/G] NM_015666 GTPBP5 EXON Missense_V251M exm1555097 20 60774273 [A/C] NM_015666 GTPBP5 EXON Missense_H262Q exm1555099 20 60774283 [A/G] NM_015666 GTPBP5 EXON Missense_V266I exm1555100 20 60774295 [A/G] NM_015666 GTPBP5 EXON Missense_G270S exm1970872 20 60774305 [A/C] NM_015666 GTPBP5 EXON Missense_Q273P exm1555110 20 60775835 [T/G] NM_015666 GTPBP5 EXON Missense_F308C exm1555117 20 60775922 [T/C] NM_015666 GTPBP5 EXON Missense_A337V exm1555122 20 60775991 [A/G] NM_015666 GTPBP5 EXON Missense_R360Q exm1555124 20 60776027 [T/C] NM_015666 GTPBP5 EXON Missense_A372V exm1555141 20 60791235 [T/C] NM_007232 HRH3 EXON Missense_V389I exm1555147 20 60791316 [T/C] NM_007232 HRH3 EXON Missense_V362I exm1555184 20 60793653 [T/C] NM_007232 HRH3 EXON Missense_R104Q exm1555191 20 60793712 [A/G] NM_007232 HRH3 EXON Synonymous_G84G exm2268317 20 60803463 [A/G] exm1555202 20 60835075 [A/G] NM_014835,NM_144498 OSBPL2,OSBPL2 EXON Missense_A14T,Missense_A26T exm1555204 20 60835091 [T/C] NM_014835,NM_144498 OSBPL2,OSBPL2 EXON Missense_T19M,Missense_T31M exm1555236 20 60856154 [A/G] NM_014835,NM_144498 OSBPL2,OSBPL2 EXON Missense_V227I,Missense_V239I exm1555240 20 60856855 [T/G] NM_014835,NM_144498 OSBPL2,OSBPL2 EXON Missense_H252Q,Missense_H264Q exm1555242 20 60856896 [A/G] NM_014835,NM_144498 OSBPL2,OSBPL2 EXON Missense_K266R,Missense_K278R exm1555268 20 60866789 [A/G] NM_014835,NM_144498 OSBPL2,OSBPL2 EXON Missense_E415G,Missense_E427G exm1555269 20 60866804 [A/C] NM_014835,NM_144498 OSBPL2,OSBPL2 EXON Missense_E420A,Missense_E432A exm1555276 20 60868923 [A/G] NM_014835,NM_144498 OSBPL2,OSBPL2 EXON Missense_D463N,Missense_D475N exm1555287 20 60878683 [A/G] NM_007002,NM_175573 ADRM1,ADRM1 EXON Missense_N20S,Missense_N20S exm1555290 20 60878783 [C/G] NM_007002,NM_175573 ADRM1,ADRM1 EXON Missense_D53E,Missense_D53E exm1555298 20 60881267 [C/G] NM_007002,NM_175573 ADRM1,ADRM1 EXON Missense_D115E,Missense_D115E exm1555309 20 60881736 [A/G] NM_007002,NM_175573 ADRM1,ADRM1 EXON Missense_M163V,Missense_M163V exm1555315 20 60882667 [T/G] NM_007002,NM_175573 ADRM1,ADRM1 EXON Synonymous_S213S,Synonymous_S213S exm2254365 20 60882667 [T/G] NM_007002,NM_175573 ADRM1,ADRM1 EXON Synonymous_S213S,Synonymous_S213S exm1555319 20 60882747 [A/C] NM_007002,NM_175573 ADRM1,ADRM1 EXON Missense_T240N,Missense_T240N exm1555334 20 60883191 [T/C] NM_007002,NM_175573 ADRM1,ADRM1 EXON Missense_A324V,Missense_A324V exm1555340 20 60883442 [A/G] NM_007002,NM_175573 ADRM1,ADRM1 EXON Missense_A345T,Missense_A345T exm1555351 20 60883783 [A/C] NM_007002,NM_175573 ADRM1,ADRM1 EXON Missense_K397T,Missense_K397T exm1555362 20 60884427 [T/C] NM_005560 LAMA5 EXON Missense_G3685R exm1555368 20 60884483 [T/C] NM_005560 LAMA5 EXON Missense_R3666K exm1555378 20 60884843 [T/C] NM_005560 LAMA5 EXON Missense_N3626S exm1555380 20 60884852 [A/G] NM_005560 LAMA5 EXON Missense_A3623V exm1555381 20 60884853 [T/C] NM_005560 LAMA5 EXON Missense_A3623T exm1555383 20 60884880 [G/C] NM_005560 LAMA5 EXON Missense_G3614R exm1970990 20 60885047 [A/C] NM_005560 LAMA5 EXON Missense_A3609S exm1555386 20 60885082 [A/G] NM_005560 LAMA5 EXON Missense_P3597L exm1555390 20 60885119 [A/C] NM_005560 LAMA5 EXON Missense_D3585Y exm1555391 20 60885127 [T/C] NM_005560 LAMA5 EXON Missense_R3582Q exm1555393 20 60885242 [T/C] NM_005560 LAMA5 EXON Missense_E3576K exm1555397 20 60885271 [A/G] NM_005560 LAMA5 EXON Missense_T3566M exm1555398 20 60885275 [A/G] NM_005560 LAMA5 EXON Missense_R3565W exm1555400 20 60885319 [T/C] NM_005560 LAMA5 EXON Missense_R3550Q exm1555403 20 60885362 [A/G] NM_005560 LAMA5 EXON Missense_P3536S exm1555411 20 60885622 [T/C] NM_005560 LAMA5 EXON Missense_V3485I exm2234681 20 60885840 [T/C] NM_005560 LAMA5 EXON Missense_G3443R exm2234682 20 60885845 [A/G] NM_005560 LAMA5 EXON Missense_T3441M exm1555427 20 60886008 [A/G] NM_005560 LAMA5 EXON Missense_R3411W exm1555432 20 60886106 [A/C] NM_005560 LAMA5 EXON Missense_L3378R exm1555436 20 60886146 [T/C] NM_005560 LAMA5 EXON Missense_S3365G exm1971015 20 60886272 [A/C] NM_005560 LAMA5 EXON Missense_G3345V exm1555445 20 60886336 [A/G] NM_005560 LAMA5 EXON Missense_R3324W exm1555452 20 60886521 [A/G] NM_005560 LAMA5 EXON Missense_A3293V exm1555456 20 60886573 [T/C] NM_005560 LAMA5 EXON Missense_V3276I exm1555461 20 60886683 [T/C] NM_005560 LAMA5 EXON Missense_V3265I exm1555467 20 60886743 [A/G] NM_005560 LAMA5 EXON Missense_L3245F exm1555475 20 60886998 [T/C] NM_005560 LAMA5 EXON Missense_A3205T exm1971028 20 60887030 [A/G] NM_005560 LAMA5 EXON Missense_A3194V exm1555486 20 60887230 [A/G] NM_005560 LAMA5 EXON Missense_P3168L exm1555488 20 60887239 [T/C] NM_005560 LAMA5 EXON Missense_R3165Q exm1555489 20 60887240 [A/G] NM_005560 LAMA5 EXON Missense_R3165W exm1555493 20 60887279 [T/C] NM_005560 LAMA5 EXON Missense_G3152S exm1555502 20 60887345 [A/G] NM_005560 LAMA5 EXON Missense_H3130Y exm1555503 20 60887356 [A/G] NM_005560 LAMA5 EXON Missense_T3126I exm1555516 20 60887553 [T/C] NM_005560 LAMA5 EXON Missense_R3088H exm1555520 20 60887581 [A/G] NM_005560 LAMA5 EXON Missense_R3079W exm1555524 20 60887704 [T/C] NM_005560 LAMA5 EXON Missense_D3071N exm1555538 20 60888018 [A/G] NM_005560 LAMA5 EXON Missense_Y3002H exm1555560 20 60888464 [A/G] NM_005560 LAMA5 EXON Missense_T2904M exm1555563 20 60888510 [A/G] NM_005560 LAMA5 EXON Missense_P2889S exm1555567 20 60888740 [T/C] NM_005560 LAMA5 EXON Missense_V2875I exm1555577 20 60888842 [A/G] NM_005560 LAMA5 EXON Missense_H2841Y exm1555578 20 60888856 [A/G] NM_005560 LAMA5 EXON Missense_T2836I exm1555580 20 60889385 [T/G] NM_005560 LAMA5 EXON Missense_Q2827K exm1555586 20 60889465 [T/C] NM_005560 LAMA5 EXON Missense_R2800H exm1555587 20 60889475 [T/C] NM_005560 LAMA5 EXON Missense_V2797M exm1555588 20 60889493 [T/G] NM_005560 LAMA5 EXON Missense_T2791P exm1971078 20 60889727 [A/G] NM_005560 LAMA5 EXON Missense_R2751W exm1555602 20 60889757 [T/C] NM_005560 LAMA5 EXON Missense_G2741R exm1555617 20 60889929 [T/C] NM_005560 LAMA5 EXON Missense_A2708T exm1555620 20 60889985 [A/G] NM_005560 LAMA5 EXON Missense_T2689M exm1555634 20 60890155 [T/C] NM_005560 LAMA5 EXON Missense_R2659Q exm1555640 20 60890243 [T/C] NM_005560 LAMA5 EXON Missense_A2630T exm1555643 20 60890262 [A/G] NM_005560 LAMA5 EXON Synonymous_D2623D exm1555652 20 60891045 [A/G] NM_005560 LAMA5 EXON Missense_A2609V exm1555656 20 60891783 [A/G] NM_005560 LAMA5 EXON Missense_A2567V exm1555657 20 60891801 [T/C] NM_005560 LAMA5 EXON Missense_R2561Q exm1555669 20 60892011 [T/C] NM_005560 LAMA5 EXON Missense_R2527H exm1555673 20 60892077 [A/C] NM_005560 LAMA5 EXON Missense_I2505S exm1555678 20 60892450 [T/C] NM_005560 LAMA5 EXON Missense_A2488T exm1555679 20 60892464 [T/C] NM_005560 LAMA5 EXON Missense_R2483H exm1555682 20 60892479 [A/G] NM_005560 LAMA5 EXON Missense_A2478V exm1555683 20 60892496 [T/C] NM_005560 LAMA5 EXON Missense_M2472I exm1555688 20 60892545 [T/C] NM_005560 LAMA5 EXON Missense_R2456H exm1555695 20 60892746 [A/G] NM_005560 LAMA5 EXON Missense_L2443S exm1555696 20 60892756 [T/C] NM_005560 LAMA5 EXON Missense_V2440I exm1555700 20 60892782 [A/T] NM_005560 LAMA5 EXON Missense_H2431L exm1555702 20 60892813 [A/G] NM_005560 LAMA5 EXON Missense_R2421W exm1555706 20 60893527 [A/G] NM_005560 LAMA5 EXON Missense_R2408C exm1555708 20 60893539 [A/G] NM_005560 LAMA5 EXON Missense_R2404C exm1555718 20 60893611 [T/C] NM_005560 LAMA5 EXON Missense_G2380S exm1555721 20 60893615 [G/C] NM_005560 LAMA5 EXON Missense_E2378D exm1555726 20 60893631 [T/C] NM_005560 LAMA5 EXON Missense_R2373Q exm1555735 20 60893697 [T/C] NM_005560 LAMA5 EXON Missense_R2351Q exm1555742 20 60893961 [T/C] NM_005560 LAMA5 EXON Missense_R2327Q exm1555748 20 60894054 [A/G] NM_005560 LAMA5 EXON Missense_T2296M exm1555756 20 60894806 [T/C] NM_005560 LAMA5 EXON Missense_E2269K exm1555765 20 60895620 [T/C] NM_005560 LAMA5 EXON Missense_G2252S exm1555768 20 60895629 [A/G] NM_005560 LAMA5 EXON Missense_R2249W exm1555770 20 60895688 [A/G] NM_005560 LAMA5 EXON Missense_T2229M exm1555779 20 60895806 [T/C] NM_005560 LAMA5 EXON Missense_A2213T exm1555786 20 60895865 [T/C] NM_005560 LAMA5 EXON Missense_R2193H exm1555787 20 60895866 [A/G] NM_005560 LAMA5 EXON Missense_R2193C exm1555793 20 60895890 [A/G] NM_005560 LAMA5 EXON Missense_L2185F exm1555799 20 60895904 [T/C] NM_005560 LAMA5 EXON Missense_R2180Q exm1555804 20 60897104 [T/C] NM_005560 LAMA5 EXON Missense_G2156E exm1555810 20 60897158 [A/C] NM_005560 LAMA5 EXON Missense_S2138I exm1555826 20 60897453 [T/C] NM_005560 LAMA5 EXON Missense_G2073E exm1555828 20 60897465 [A/G] NM_005560 LAMA5 EXON Missense_P2069L exm1555832 20 60897721 [T/C] NM_005560 LAMA5 EXON Missense_R2053H exm1971150 20 60897748 [A/G] NM_005560 LAMA5 EXON Missense_A2044V exm2254368 20 60898612 [T/C] NM_005560 LAMA5 EXON Synonymous_T1988T exm1555862 20 60898833 [A/G] NM_005560 LAMA5 EXON Missense_R1950W exm1971157 20 60898905 [T/C] NM_005560 LAMA5 EXON Missense_E1926K exm1555874 20 60899192 [G/C] NM_005560 LAMA5 EXON Missense_D1904E exm1555876 20 60899196 [T/C] NM_005560 LAMA5 EXON Missense_R1903K exm1555877 20 60899206 [T/C] NM_005560 LAMA5 EXON Missense_V1900M exm1555880 20 60899223 [T/C] NM_005560 LAMA5 EXON Missense_R1894H exm1555881 20 60899224 [A/G] NM_005560 LAMA5 EXON Missense_R1894C exm1555885 20 60899513 [A/C] NM_005560 LAMA5 EXON Missense_G1876V exm1555886 20 60899525 [T/C] NM_005560 LAMA5 EXON Missense_R1872H exm1555893 20 60900388 [T/C] NM_005560 LAMA5 EXON Missense_R1838Q exm1555894 20 60900389 [A/G] NM_005560 LAMA5 EXON Missense_R1838W exm1971175 20 60900401 [A/G] NM_005560 LAMA5 EXON Missense_P1834S exm1555901 20 60900481 [A/G] NM_005560 LAMA5 EXON Missense_F1807S exm1555902 20 60900490 [A/G] NM_005560 LAMA5 EXON Missense_S1804L exm1555910 20 60900578 [A/G] NM_005560 LAMA5 EXON Missense_R1775C exm1555912 20 60900580 [A/G] NM_005560 LAMA5 EXON Missense_T1774M exm1555914 20 60900593 [A/G] NM_005560 LAMA5 EXON Missense_R1770W exm1555919 20 60901762 [T/C] NM_005560 LAMA5 EXON Missense_V1757I exm1555921 20 60901773 [A/G] NM_005560 LAMA5 EXON Missense_T1753M exm1555925 20 60901785 [A/G] NM_005560 LAMA5 EXON Missense_P1749L exm1555929 20 60901932 [T/C] NM_005560 LAMA5 EXON Missense_V1735M exm1555934 20 60901986 [A/G] NM_005560 LAMA5 EXON Missense_H1717Y exm1555935 20 60901988 [A/C] NM_005560 LAMA5 EXON Missense_L1716R exm1555936 20 60901997 [T/C] NM_005560 LAMA5 EXON Missense_R1713H exm1555939 20 60902022 [T/C] NM_005560 LAMA5 EXON Missense_V1705M exm1555940 20 60902291 [A/G] NM_005560 LAMA5 EXON Missense_R1704W exm1555946 20 60902366 [A/G] NM_005560 LAMA5 EXON Missense_R1679W exm1555949 20 60902389 [A/G] NM_005560 LAMA5 EXON Missense_T1671M exm1555950 20 60902401 [T/C] NM_005560 LAMA5 EXON Missense_R1667Q exm1555951 20 60902402 [A/G] NM_005560 LAMA5 EXON Missense_R1667W exm1555957 20 60902604 [A/G] NM_005560 LAMA5 EXON Missense_S1640L exm1555965 20 60902691 [T/C] NM_005560 LAMA5 EXON Missense_S1611N exm1555969 20 60902962 [A/G] NM_005560 LAMA5 EXON Missense_P1586L exm1555975 20 60903022 [A/G] NM_005560 LAMA5 EXON Missense_P1566L exm1971201 20 60903041 [A/G] NM_005560 LAMA5 EXON Missense_R1560C exm1555997 20 60903942 [A/C] NM_005560 LAMA5 EXON Missense_S1469A exm1555998 20 60903950 [A/C] NM_005560 LAMA5 EXON Missense_R1466L exm1556005 20 60904031 [T/C] NM_005560 LAMA5 EXON Missense_G1439D exm1556007 20 60904040 [T/C] NM_005560 LAMA5 EXON Missense_R1436H exm1556013 20 60904260 [T/C] NM_005560 LAMA5 EXON Missense_R1390Q exm1556015 20 60904282 [T/C] NM_005560 LAMA5 EXON Missense_V1383I exm1556022 20 60904919 [T/C] NM_005560 LAMA5 EXON Missense_V1345M exm1556030 20 60905559 [T/C] NM_005560 LAMA5 EXON Missense_G1322S exm1556037 20 60905664 [T/C] NM_005560 LAMA5 EXON Missense_V1287M exm1556049 20 60905996 [T/C] NM_005560 LAMA5 EXON Missense_A1219T exm1556052 20 60906105 [A/G] NM_005560 LAMA5 EXON Synonymous_G1211G exm2254369 20 60906105 [A/G] NM_005560 LAMA5 EXON Synonymous_G1211G exm1556058 20 60906148 [A/G] NM_005560 LAMA5 EXON Missense_P1197L exm1971231 20 60907439 [A/G] NM_005560 LAMA5 EXON Missense_R1181C exm1556066 20 60907478 [A/C] NM_005560 LAMA5 EXON Missense_D1168Y exm1556074 20 60907695 [A/G] NM_005560 LAMA5 EXON Missense_R1121C exm1556077 20 60907761 [A/G] NM_005560 LAMA5 EXON Missense_L1099F exm1556090 20 60908435 [A/C] NM_005560 LAMA5 EXON Missense_D1042Y exm1556094 20 60908497 [A/G] NM_005560 LAMA5 EXON Missense_A1021V exm1556100 20 60908717 [A/G] NM_005560 LAMA5 EXON Missense_P975L exm1556106 20 60908969 [T/C] NM_005560 LAMA5 EXON Missense_T956A exm1556112 20 60909025 [T/C] NM_005560 LAMA5 EXON Missense_R937Q exm1556125 20 60909316 [T/C] NM_005560 LAMA5 EXON Missense_V889M exm1556132 20 60909393 [A/G] NM_005560 LAMA5 EXON Missense_A863V exm1556143 20 60910124 [T/G] NM_005560 LAMA5 EXON Missense_K812T exm1556154 20 60911398 [A/G] NM_005560 LAMA5 EXON Missense_T774I exm1556156 20 60911434 [A/C] NM_005560 LAMA5 EXON Missense_F762C exm1556159 20 60911471 [T/C] NM_005560 LAMA5 EXON Missense_V750M exm2234695 20 60911479 [T/C] NM_005560 LAMA5 EXON Missense_R747Q exm1971271 20 60911500 [A/G] NM_005560 LAMA5 EXON Missense_A740V exm1556184 20 60912731 [A/C] NM_005560 LAMA5 EXON Missense_S693R exm1556193 20 60912949 [A/G] NM_005560 LAMA5 EXON Missense_A646V exm1556196 20 60912983 [T/C] NM_005560 LAMA5 EXON Missense_D635N exm2234696 20 60913114 [T/C] NM_005560 LAMA5 EXON Missense_D617N exm1556205 20 60913174 [T/C] NM_005560 LAMA5 EXON Missense_E597K exm1556206 20 60913189 [A/C] NM_005560 LAMA5 EXON Missense_A592S exm1556208 20 60913320 [A/G] NM_005560 LAMA5 EXON Missense_A575V exm1556211 20 60913345 [T/C] NM_005560 LAMA5 EXON Missense_E567K exm1556217 20 60913553 [A/G] NM_005560 LAMA5 EXON Missense_A530V exm1556221 20 60913601 [T/C] NM_005560 LAMA5 EXON Missense_R514H exm1556230 20 60920915 [T/C] NM_005560 LAMA5 EXON Missense_N479S exm1556232 20 60920930 [A/G] NM_005560 LAMA5 EXON Missense_T474M exm-rs4925386 20 60921044 [T/C] NM_005560 LAMA5 Silent exm1556246 20 60921563 [A/G] NM_005560 LAMA5 EXON Synonymous_R427R exm1556251 20 60921598 [G/C] NM_005560 LAMA5 EXON Missense_P416A exm1556254 20 60921643 [T/C] NM_005560 LAMA5 EXON Missense_T401A exm1971309 20 60921794 [T/C] NM_005560 LAMA5 EXON Missense_A379T exm1556260 20 60921797 [A/G] NM_005560 LAMA5 EXON Missense_R378C exm1556268 20 60921998 [A/G] NM_005560 LAMA5 EXON Missense_A348V exm1556277 20 60926766 [A/G] NM_005560 LAMA5 EXON Missense_P317L exm1556279 20 60926772 [A/G] NM_005560 LAMA5 EXON Missense_T315M exm1971326 20 60926817 [T/C] NM_005560 LAMA5 EXON Missense_C300Y exm1556286 20 60926821 [A/G] NM_005560 LAMA5 EXON Missense_R299C exm1556301 20 60927129 [T/C] NM_005560 LAMA5 EXON Missense_V232M exm1556307 20 60927347 [A/G] NM_005560 LAMA5 EXON Missense_A213V exm2234699 20 60927354 [T/C] NM_005560 LAMA5 EXON Missense_D211N exm1556317 20 60928231 [A/G] NM_005560 LAMA5 EXON Missense_M176T exm1556319 20 60928304 [A/G] NM_005560 LAMA5 EXON Missense_F152L exm1556326 20 60937503 [A/G] NM_005560 LAMA5 EXON Missense_R135C exm1556360 20 60963386 [T/C] NM_001024 RPS21 EXON Missense_L70F exm1556383 20 60966318 [T/G] NM_031215 CABLES2 EXON Missense_T428K exm1556386 20 60966379 [T/C] NM_031215 CABLES2 EXON Missense_A408T exm1556389 20 60966492 [T/C] NM_031215 CABLES2 EXON Missense_R370Q exm1556404 20 60968071 [T/C] NM_031215 CABLES2 EXON Missense_V297M exm1556410 20 60968561 [T/C] NM_031215 CABLES2 EXON Missense_R272Q exm1556425 20 60970036 [T/C] NM_031215 CABLES2 EXON Missense_A188T exm1556432 20 60971397 [T/C] NM_031215 CABLES2 EXON Missense_M167I exm1556470 20 60985999 [T/C] NM_080833 RBBP8NL EXON Missense_G644R exm1556471 20 60986019 [A/C] NM_080833 RBBP8NL EXON Missense_L637R exm1556479 20 60987715 [T/C] NM_080833 RBBP8NL EXON Missense_R614Q exm1556489 20 60987888 [T/C] NM_080833 RBBP8NL EXON Missense_E582K exm1556490 20 60987918 [T/C] NM_080833 RBBP8NL EXON Missense_E572K exm1556496 20 60988466 [T/C] NM_080833 RBBP8NL EXON Missense_G556S exm1556505 20 60988576 [G/C] NM_080833 RBBP8NL EXON Missense_S519C exm2275161 20 60988591 [A/C] NM_080833 RBBP8NL EXON Missense_R514L exm1556510 20 60988951 [G/C] NM_080833 RBBP8NL EXON Missense_R486G exm1556514 20 60988981 [T/C] NM_080833 RBBP8NL EXON Missense_E476K exm1556526 20 60989186 [A/G] NM_080833 RBBP8NL EXON Synonymous_A407A exm2254370 20 60989186 [A/G] NM_080833 RBBP8NL EXON Synonymous_A407A exm1556527 20 60989187 [T/G] NM_080833 RBBP8NL EXON Missense_A407D exm1556537 20 60989365 [T/C] NM_080833 RBBP8NL EXON Missense_D348N exm1556546 20 60989527 [A/G] NM_080833 RBBP8NL EXON Missense_R294C exm1556564 20 60990862 [T/C] NM_080833 RBBP8NL EXON Missense_V176M exm1556568 20 60990900 [A/G] NM_080833 RBBP8NL EXON Missense_P163L exm1556572 20 60991235 [T/C] NM_080833 RBBP8NL EXON Missense_R124Q exm1556575 20 60991261 [G/C] NM_080833 RBBP8NL EXON Missense_N115K exm1556586 20 60992295 [T/C] NM_080833 RBBP8NL EXON Missense_R62Q exm1556587 20 60992329 [A/G] NM_080833 RBBP8NL EXON Missense_R51W exm1971441 20 60992370 [A/G] NM_080833 RBBP8NL EXON Missense_A37V exm1556589 20 60992371 [T/C] NM_080833 RBBP8NL EXON Missense_A37T exm1556613 20 61040014 [T/C] NM_080473 GATA5 EXON Missense_G358S exm1556616 20 61040458 [T/C] NM_080473 GATA5 EXON Missense_T326A exm1556618 20 61040502 [A/G] NM_080473 GATA5 EXON Missense_S311L exm1556640 20 61048475 [T/C] NM_080473 GATA5 EXON Missense_R228Q exm1556714 20 61162228 [T/C] NM_178463 C20orf166 EXON Missense_P14L exm1556716 20 61162233 [A/G] NM_178463 C20orf166 EXON Missense_A16T exm1556718 20 61162267 [T/C] NM_178463 C20orf166 EXON Missense_V27A exm1556721 20 61167658 [G/C] NM_178463 C20orf166 EXON Missense_P43R exm1556726 20 61167787 [T/C] NM_178463 C20orf166 EXON Missense_T86M exm1556730 20 61167871 [A/G] NM_178463 C20orf166 EXON Nonsense_W114X exm2254371 20 61170103 [T/C] exm1556739 20 61287879 [C/G] NM_016354 SLCO4A1 EXON Missense_D25H exm1556743 20 61287939 [T/C] NM_016354 SLCO4A1 EXON Missense_R45C exm1556747 20 61288015 [A/G] NM_016354 SLCO4A1 EXON Missense_R70Q exm1556750 20 61288038 [A/G] NM_016354 SLCO4A1 EXON Missense_V78I exm1556759 20 61288086 [T/C] NM_016354 SLCO4A1 EXON Missense_P94S exm1556774 20 61288242 [A/G] NM_016354 SLCO4A1 EXON Missense_A146T exm1556781 20 61288378 [A/G] NM_016354 SLCO4A1 EXON Missense_H191R exm1971498 20 61288392 [T/C] NM_016354 SLCO4A1 EXON Missense_R196C exm1556783 20 61288411 [A/T] NM_016354 SLCO4A1 EXON Missense_D202V exm1556786 20 61288446 [A/G] NM_016354 SLCO4A1 EXON Missense_A214T exm1556796 20 61288593 [A/G] NM_016354 SLCO4A1 EXON Missense_V263I exm1556814 20 61292443 [T/C] NM_016354 SLCO4A1 EXON Missense_A346V exm1556818 20 61292481 [A/G] NM_016354 SLCO4A1 EXON Missense_E359K exm2254372 20 61296364 [T/C] NM_016354,NR_024470 SLCO4A1,LOC100127888 EXON Synonymous_T400T,Silent exm1556827 20 61296364 [T/C] NM_016354,NR_024470 SLCO4A1,LOC100127888 EXON Synonymous_T400T,Silent exm1556841 20 61297920 [A/G] NM_016354,NR_024470 SLCO4A1,LOC100127888 EXON Missense_G489S,Silent exm1556843 20 61299111 [A/G] NM_016354 SLCO4A1 EXON Missense_G496D exm1556849 20 61299191 [A/G] NM_016354 SLCO4A1 EXON Missense_G523S exm1971530 20 61299218 [A/G] NM_016354 SLCO4A1 EXON Missense_A532T exm1556852 20 61299243 [T/C] NM_016354 SLCO4A1 EXON Missense_T540M exm1556854 20 61299254 [A/G] NM_016354 SLCO4A1 EXON Missense_G544S exm2254373 20 61299501 [T/C] NM_016354 SLCO4A1 EXON Synonymous_F592F exm1556866 20 61299535 [T/C] NM_016354 SLCO4A1 EXON Nonsense_R604X exm1556874 20 61299843 [T/C] NM_016354 SLCO4A1 EXON Missense_P609L exm1556892 20 61303154 [T/C] NM_016354 SLCO4A1 EXON Missense_S693L exm1556924 20 61340732 [T/C] NM_002531 NTSR1 EXON Missense_T58I exm1556926 20 61340758 [A/G] NM_002531 NTSR1 EXON Missense_T67A exm1556930 20 61340774 [T/C] NM_002531 NTSR1 EXON Missense_A72V exm1556942 20 61341092 [T/C] NM_002531 NTSR1 EXON Missense_T178I exm1556945 20 61341172 [T/C] NM_002531 NTSR1 EXON Missense_F205L exm1556957 20 61386094 [A/G] NM_002531 NTSR1 EXON Missense_I258V exm1556958 20 61386100 [A/G] NM_002531 NTSR1 EXON Missense_A260T exm1556960 20 61386115 [A/G] NM_002531 NTSR1 EXON Missense_V265I exm1556962 20 61386136 [A/G] NM_002531 NTSR1 EXON Missense_E272K exm1556964 20 61386147 [A/C] NM_002531 NTSR1 EXON Missense_Q275H exm1556973 20 61386232 [A/G] NM_002531 NTSR1 EXON Missense_V304I exm1556974 20 61386238 [T/C] NM_002531 NTSR1 EXON Missense_R306C exm1556985 20 61389669 [A/G] NM_002531 NTSR1 EXON Missense_R323H exm1556992 20 61389708 [T/C] NM_002531 NTSR1 EXON Missense_P336L exm1556995 20 61391370 [T/G] NM_002531 NTSR1 EXON Synonymous_P336P exm1556997 20 61391378 [A/G] NM_002531 NTSR1 EXON Missense_Y339C exm1557000 20 61391401 [A/G] NM_002531 NTSR1 EXON Missense_M347V exm1557005 20 61391521 [T/C] NM_002531 NTSR1 EXON Missense_R387W exm1557006 20 61391522 [A/G] NM_002531 NTSR1 EXON Missense_R387Q exm1557008 20 61391524 [T/C] NM_002531 NTSR1 EXON Missense_R388C exm1557009 20 61391525 [A/G] NM_002531 NTSR1 EXON Missense_R388H exm1557011 20 61391549 [T/C] NM_002531 NTSR1 EXON Missense_S396L exm1971571 20 61391602 [T/C] NM_002531 NTSR1 EXON Missense_R414C exm2272945 20 61391977 [T/G] NM_002531 NTSR1 EXON Silent exm1557055 20 61438896 [A/T] NM_007346 OGFR EXON Missense_M60K exm2254374 20 61438924 [A/G] NM_007346 OGFR EXON Synonymous_T69T exm1557073 20 61441901 [T/C] NM_007346 OGFR EXON Missense_T150M exm1557080 20 61442850 [T/G] NM_007346 OGFR EXON Missense_V168F exm1557084 20 61442929 [A/G] NM_007346 OGFR EXON Missense_Q194R exm1557095 20 61443716 [A/G] NM_007346 OGFR EXON Missense_R250Q exm1557100 20 61443809 [A/G] NM_007346 OGFR EXON Missense_R281H exm1971597 20 61443852 [C/G] NM_007346 OGFR EXON Missense_F295L exm1557110 20 61443916 [A/G] NM_007346 OGFR EXON Missense_G317R exm1557129 20 61444244 [T/C] NM_007346 OGFR EXON Missense_T426M exm1971602 20 61444442 [A/G] NM_007346 OGFR EXON Missense_K492R exm1557147 20 61444523 [T/C] NM_007346 OGFR EXON Missense_S519L exm1557190 20 61444915 [A/G] NM_007346 OGFR EXON Missense_T650A exm1557191 20 61444918 [A/G] NM_007346 OGFR EXON Missense_R651G exm1557195 20 61444939 [G/C] NM_007346 OGFR EXON Missense_G658R exm1557223 20 61449904 [T/C] NM_001853 COL9A3 EXON Missense_P61L exm1557226 20 61450599 [T/C] NM_001853 COL9A3 EXON Missense_P70L exm1557237 20 61451305 [T/C] NM_001853 COL9A3 EXON Missense_P94S exm1557241 20 61451333 [A/G] NM_001853 COL9A3 EXON Missense_R103Q exm1557257 20 61453127 [A/G] NM_001853 COL9A3 EXON Missense_G130S exm1557261 20 61453161 [G/C] NM_001853 COL9A3 EXON Missense_P141R exm1557269 20 61453946 [T/C] NM_001853 COL9A3 EXON Missense_H161Y exm1557288 20 61457572 [G/C] NM_001853 COL9A3 EXON Missense_R234P exm1557294 20 61458135 [A/G] NM_001853 COL9A3 EXON Missense_R252Q exm2234717 20 61458143 [T/C] NM_001853 COL9A3 EXON Missense_P255S exm1557303 20 61458171 [T/C] NM_001853 COL9A3 EXON Missense_A264V exm1557304 20 61458172 [A/G] NM_001853 COL9A3 EXON Synonymous_A264A exm1557313 20 61459315 [T/C] NM_001853 COL9A3 EXON Missense_P296L exm1557324 20 61460327 [T/C] NM_001853 COL9A3 EXON Missense_P336L exm1557340 20 61461145 [A/G] NM_001853 COL9A3 EXON Missense_G379S exm1557348 20 61461730 [T/G] NM_001853 COL9A3 EXON Missense_G394C exm1557361 20 61463522 [A/C] NM_001853 COL9A3 EXON Missense_A435E exm1557368 20 61464375 [A/G] NM_001853 COL9A3 EXON Missense_I443V exm1557370 20 61464387 [A/G] NM_001853 COL9A3 EXON Missense_D447N exm1557375 20 61467282 [A/G] NM_001853 COL9A3 EXON Missense_G460S exm1557386 20 61467564 [G/C] NM_001853 COL9A3 EXON Missense_P476R exm1557396 20 61467666 [T/C] NM_001853 COL9A3 EXON Missense_T510M exm1557401 20 61467684 [T/C] NM_001853 COL9A3 EXON Missense_P516L exm1557413 20 61467883 [T/C] NM_001853 COL9A3 EXON Synonymous_S534S exm1557423 20 61468494 [T/C] NM_001853 COL9A3 EXON Missense_R555W exm1557433 20 61468587 [A/C] NM_001853 COL9A3 EXON Missense_T586P exm1557438 20 61470065 [A/G] NM_001853 COL9A3 EXON Missense_A606T exm1557457 20 61472040 [A/G] NM_001853 COL9A3 EXON Missense_V671M exm1557473 20 61477034 [A/G] NM_006602,NM_080750 TCFL5,DPH3P1 EXON Silent,Missense_E7K exm2234719 20 61477217 [G/C] NM_006602,NM_080750 TCFL5,DPH3P1 EXON Silent,Missense_E68Q exm1557481 20 61485507 [T/C] NM_006602 TCFL5 EXON Missense_R414H exm1557488 20 61488845 [C/G] NM_006602 TCFL5 EXON Missense_E380D exm1557496 20 61490763 [T/C] NM_006602 TCFL5 EXON Missense_G316D exm2234721 20 61490871 [A/C] NM_006602 TCFL5 EXON Missense_S280I exm1557498 20 61491478 [T/C] NM_006602 TCFL5 EXON Missense_Q277R exm1557500 20 61491494 [T/C] NM_006602 TCFL5 EXON Missense_N272D exm1557584 20 61511775 [A/G] NM_001193369,NM_033081 DIDO1,DIDO1 EXON Missense_R1845C,Missense_R1845C exm1557585 20 61511798 [A/G] NM_001193369,NM_033081 DIDO1,DIDO1 EXON Missense_V1837A,Missense_V1837A exm1557586 20 61511817 [A/G] NM_001193369,NM_033081 DIDO1,DIDO1 EXON Missense_L1831F,Missense_L1831F exm1557598 20 61512080 [A/C] NM_001193369,NM_033081 DIDO1,DIDO1 EXON Missense_V1743G,Missense_V1743G exm1557599 20 61512095 [T/G] NM_001193369,NM_033081 DIDO1,DIDO1 EXON Missense_P1738Q,Missense_P1738Q exm1557602 20 61512158 [T/C] NM_001193369,NM_033081 DIDO1,DIDO1 EXON Missense_G1717D,Missense_G1717D exm1557606 20 61512185 [G/C] NM_001193369,NM_033081 DIDO1,DIDO1 EXON Missense_S1708C,Missense_S1708C exm1557608 20 61512192 [G/C] NM_001193369,NM_033081 DIDO1,DIDO1 EXON Missense_L1706V,Missense_L1706V exm1557610 20 61512242 [A/G] NM_001193369,NM_033081 DIDO1,DIDO1 EXON Missense_A1689V,Missense_A1689V exm1557626 20 61512461 [A/G] NM_001193369,NM_033081 DIDO1,DIDO1 EXON Missense_S1616F,Missense_S1616F exm1557631 20 61512497 [A/G] NM_001193369,NM_033081 DIDO1,DIDO1 EXON Missense_A1604V,Missense_A1604V exm1557633 20 61512537 [A/G] NM_001193369,NM_033081 DIDO1,DIDO1 EXON Missense_P1591S,Missense_P1591S exm1557645 20 61512687 [A/G] NM_001193369,NM_033081 DIDO1,DIDO1 EXON Missense_S1541P,Missense_S1541P exm1557646 20 61512691 [A/C] NM_001193369,NM_033081 DIDO1,DIDO1 EXON Missense_Q1539H,Missense_Q1539H exm1557656 20 61512908 [A/G] NM_001193369,NM_033081 DIDO1,DIDO1 EXON Missense_A1467V,Missense_A1467V exm2234723 20 61513248 [A/C] NM_001193369,NM_033081 DIDO1,DIDO1 EXON Missense_V1354L,Missense_V1354L exm1557682 20 61513314 [T/C] NM_001193369,NM_033081 DIDO1,DIDO1 EXON Missense_A1332T,Missense_A1332T exm1557687 20 61513388 [A/G] NM_001193369,NM_033081 DIDO1,DIDO1 EXON Missense_A1307V,Missense_A1307V exm1557688 20 61513430 [A/G] NM_001193369,NM_033081 DIDO1,DIDO1 EXON Missense_A1293V,Missense_A1293V exm1557704 20 61513649 [T/G] NM_001193369,NM_033081 DIDO1,DIDO1 EXON Missense_P1220Q,Missense_P1220Q exm1971734 20 61524300 [T/C] NM_001193369,NM_033081,NM_080797,NM_001193370 DIDO1,DIDO1,DIDO1,DIDO1 EXON Missense_R1039H,Missense_R1039H,Missense_R1039H,Missense_R1039H exm1557737 20 61525048 [T/C] NM_001193369,NM_033081,NM_080797,NM_001193370 DIDO1,DIDO1,DIDO1,DIDO1 EXON Missense_Y1024C,Missense_Y1024C,Missense_Y1024C,Missense_Y1024C exm1557741 20 61525165 [T/C] NM_001193369,NM_033081,NM_080797,NM_001193370 DIDO1,DIDO1,DIDO1,DIDO1 EXON Missense_R985H,Missense_R985H,Missense_R985H,Missense_R985H exm2276728 20 61525208 [A/C] NM_001193369,NM_033081,NM_080797,NM_001193370 DIDO1,DIDO1,DIDO1,DIDO1 EXON Missense_A971S,Missense_A971S,Missense_A971S,Missense_A971S exm1557746 20 61525238 [T/C] NM_001193369,NM_033081,NM_080797,NM_001193370 DIDO1,DIDO1,DIDO1,DIDO1 EXON Missense_V961I,Missense_V961I,Missense_V961I,Missense_V961I exm1557752 20 61525304 [T/C] NM_001193369,NM_033081,NM_080797,NM_001193370 DIDO1,DIDO1,DIDO1,DIDO1 EXON Missense_E939K,Missense_E939K,Missense_E939K,Missense_E939K exm1557758 20 61525450 [G/C] NM_001193369,NM_033081,NM_080797,NM_001193370 DIDO1,DIDO1,DIDO1,DIDO1 EXON Missense_S890C,Missense_S890C,Missense_S890C,Missense_S890C exm2254376 20 61525488 [A/G] NM_001193369,NM_033081,NM_080797,NM_001193370 DIDO1,DIDO1,DIDO1,DIDO1 EXON Synonymous_S877S,Synonymous_S877S,Synonymous_S877S,Synonymous_S877S exm1557769 20 61525532 [T/C] NM_001193369,NM_033081,NM_080797,NM_001193370 DIDO1,DIDO1,DIDO1,DIDO1 EXON Missense_A863T,Missense_A863T,Missense_A863T,Missense_A863T exm1557781 20 61526162 [T/C] NM_001193369,NM_033081,NM_080797,NM_001193370 DIDO1,DIDO1,DIDO1,DIDO1 EXON Synonymous_E812E,Synonymous_E812E,Synonymous_E812E,Synonymous_E812E exm1557785 20 61526220 [G/C] NM_001193369,NM_033081,NM_080797,NM_001193370 DIDO1,DIDO1,DIDO1,DIDO1 EXON Missense_A793G,Missense_A793G,Missense_A793G,Missense_A793G exm1557787 20 61526223 [A/G] NM_001193369,NM_033081,NM_080797,NM_001193370 DIDO1,DIDO1,DIDO1,DIDO1 EXON Missense_T792M,Missense_T792M,Missense_T792M,Missense_T792M exm1971750 20 61526238 [T/C] NM_001193369,NM_033081,NM_080797,NM_001193370 DIDO1,DIDO1,DIDO1,DIDO1 EXON Missense_N787S,Missense_N787S,Missense_N787S,Missense_N787S exm1557799 20 61527739 [T/C] NM_001193369,NM_033081,NM_080797,NM_001193370 DIDO1,DIDO1,DIDO1,DIDO1 EXON Missense_N687S,Missense_N687S,Missense_N687S,Missense_N687S exm1557801 20 61527973 [T/C] NM_001193369,NM_033081,NM_080797,NM_001193370 DIDO1,DIDO1,DIDO1,DIDO1 EXON Missense_R655H,Missense_R655H,Missense_R655H,Missense_R655H exm1557803 20 61527988 [A/G] NM_001193369,NM_033081,NM_080797,NM_001193370 DIDO1,DIDO1,DIDO1,DIDO1 EXON Missense_S650L,Missense_S650L,Missense_S650L,Missense_S650L exm1557808 20 61528090 [A/G] NM_001193369,NM_033081,NM_080797,NM_001193370 DIDO1,DIDO1,DIDO1,DIDO1 EXON Missense_P616L,Missense_P616L,Missense_P616L,Missense_P616L exm1557825 20 61528271 [T/C] NM_001193369,NM_033081,NM_080797,NM_001193370 DIDO1,DIDO1,DIDO1,DIDO1 EXON Missense_A556T,Missense_A556T,Missense_A556T,Missense_A556T exm1557828 20 61528306 [A/G] NM_001193369,NM_033081,NM_080797,NM_001193370 DIDO1,DIDO1,DIDO1,DIDO1 EXON Missense_M544T,Missense_M544T,Missense_M544T,Missense_M544T exm1557841 20 61537181 [A/C] NM_001193369,NM_033081,NM_080797,NM_001193370,NM_080796,NM_022105 DIDO1,DIDO1,DIDO1,DIDO1,DIDO1,DIDO1 EXON Silent,Silent,Silent,Silent,Missense_I549S,Missense_I549S exm1557848 20 61537350 [T/C] NM_001193369,NM_033081,NM_080797,NM_001193370,NM_080796,NM_022105 DIDO1,DIDO1,DIDO1,DIDO1,DIDO1,DIDO1 EXON Missense_G493R,Missense_G493R,Missense_G493R,Missense_G493R,Missense_G493R,Missense_G493R exm1557849 20 61537365 [A/G] NM_001193369,NM_033081,NM_080797,NM_001193370,NM_080796,NM_022105 DIDO1,DIDO1,DIDO1,DIDO1,DIDO1,DIDO1 EXON Missense_R488W,Missense_R488W,Missense_R488W,Missense_R488W,Missense_R488W,Missense_R488W exm1557853 20 61537416 [G/C] NM_001193369,NM_033081,NM_080797,NM_001193370,NM_080796,NM_022105 DIDO1,DIDO1,DIDO1,DIDO1,DIDO1,DIDO1 EXON Missense_A471P,Missense_A471P,Missense_A471P,Missense_A471P,Missense_A471P,Missense_A471P exm1557854 20 61537440 [T/C] NM_001193369,NM_033081,NM_080797,NM_001193370,NM_080796,NM_022105 DIDO1,DIDO1,DIDO1,DIDO1,DIDO1,DIDO1 EXON Missense_I463V,Missense_I463V,Missense_I463V,Missense_I463V,Missense_I463V,Missense_I463V exm1557857 20 61538529 [C/G] NM_001193369,NM_033081,NM_080797,NM_001193370,NM_080796,NM_022105 DIDO1,DIDO1,DIDO1,DIDO1,DIDO1,DIDO1 EXON Missense_E448D,Missense_E448D,Missense_E448D,Missense_E448D,Missense_E448D,Missense_E448D exm2254377 20 61541171 [A/G] NM_001193369,NM_033081,NM_080797,NM_001193370,NM_080796,NM_022105 DIDO1,DIDO1,DIDO1,DIDO1,DIDO1,DIDO1 EXON Synonymous_G347G,Synonymous_G347G,Synonymous_G347G,Synonymous_G347G,Synonymous_G347G,Synonymous_G347G exm1971779 20 61541171 [A/G] NM_001193369,NM_033081,NM_080797,NM_001193370,NM_080796,NM_022105 DIDO1,DIDO1,DIDO1,DIDO1,DIDO1,DIDO1 EXON Synonymous_G347G,Synonymous_G347G,Synonymous_G347G,Synonymous_G347G,Synonymous_G347G,Synonymous_G347G exm1557873 20 61541196 [T/C] NM_001193369,NM_033081,NM_080797,NM_001193370,NM_080796,NM_022105 DIDO1,DIDO1,DIDO1,DIDO1,DIDO1,DIDO1 EXON Missense_K339R,Missense_K339R,Missense_K339R,Missense_K339R,Missense_K339R,Missense_K339R exm1557886 20 61542195 [A/G] NM_001193369,NM_033081,NM_080797,NM_001193370,NM_080796,NM_022105 DIDO1,DIDO1,DIDO1,DIDO1,DIDO1,DIDO1 EXON Missense_P257L,Missense_P257L,Missense_P257L,Missense_P257L,Missense_P257L,Missense_P257L exm1557891 20 61542355 [T/C] NM_001193369,NM_033081,NM_080797,NM_001193370,NM_080796,NM_022105 DIDO1,DIDO1,DIDO1,DIDO1,DIDO1,DIDO1 EXON Missense_E204K,Missense_E204K,Missense_E204K,Missense_E204K,Missense_E204K,Missense_E204K exm1557896 20 61542388 [A/G] NM_001193369,NM_033081,NM_080797,NM_001193370,NM_080796,NM_022105 DIDO1,DIDO1,DIDO1,DIDO1,DIDO1,DIDO1 EXON Missense_R193W,Missense_R193W,Missense_R193W,Missense_R193W,Missense_R193W,Missense_R193W exm1557899 20 61542399 [T/C] NM_001193369,NM_033081,NM_080797,NM_001193370,NM_080796,NM_022105 DIDO1,DIDO1,DIDO1,DIDO1,DIDO1,DIDO1 EXON Missense_R189Q,Missense_R189Q,Missense_R189Q,Missense_R189Q,Missense_R189Q,Missense_R189Q exm1557901 20 61542405 [T/C] NM_001193369,NM_033081,NM_080797,NM_001193370,NM_080796,NM_022105 DIDO1,DIDO1,DIDO1,DIDO1,DIDO1,DIDO1 EXON Missense_R187H,Missense_R187H,Missense_R187H,Missense_R187H,Missense_R187H,Missense_R187H exm1557903 20 61542451 [A/G] NM_001193369,NM_033081,NM_080797,NM_001193370,NM_080796,NM_022105 DIDO1,DIDO1,DIDO1,DIDO1,DIDO1,DIDO1 EXON Missense_R172W,Missense_R172W,Missense_R172W,Missense_R172W,Missense_R172W,Missense_R172W exm1557909 20 61542571 [T/C] NM_001193369,NM_033081,NM_080797,NM_001193370,NM_080796,NM_022105 DIDO1,DIDO1,DIDO1,DIDO1,DIDO1,DIDO1 EXON Missense_V132M,Missense_V132M,Missense_V132M,Missense_V132M,Missense_V132M,Missense_V132M exm1557929 20 61542837 [A/G] NM_001193369,NM_033081,NM_080797,NM_001193370,NM_080796,NM_022105 DIDO1,DIDO1,DIDO1,DIDO1,DIDO1,DIDO1 EXON Missense_A43V,Missense_A43V,Missense_A43V,Missense_A43V,Missense_A43V,Missense_A43V exm1557935 20 61542945 [A/G] NM_001193369,NM_033081,NM_080797,NM_001193370,NM_080796,NM_022105 DIDO1,DIDO1,DIDO1,DIDO1,DIDO1,DIDO1 EXON Missense_P7L,Missense_P7L,Missense_P7L,Missense_P7L,Missense_P7L,Missense_P7L exm1557963 20 61588202 [A/G] NM_022082 SLC17A9 EXON Missense_V49I exm1557968 20 61588247 [T/A] NM_022082 SLC17A9 EXON Missense_I64F exm1557969 20 61588307 [A/G] NM_022082 SLC17A9 EXON Missense_G84R exm1557971 20 61588316 [T/C] NM_022082 SLC17A9 Silent exm1557973 20 61588822 [C/G] NM_022082 SLC17A9 EXON Nonsense_S96X exm-IND20-61062375 20 61591931 [I/D] NM_022082 SLC17A9 EXON exm1558004 20 61594679 [A/G] NM_022082 SLC17A9 EXON Missense_N228S exm1558006 20 61594696 [T/C] NM_022082 SLC17A9 EXON Missense_R234W exm1558008 20 61594699 [G/C] NM_022082 SLC17A9 EXON Missense_L235V exm1558010 20 61594943 [A/G] NM_022082 SLC17A9 EXON Missense_V245I exm1558013 20 61595027 [A/G] NM_022082 SLC17A9 EXON Missense_A273T exm1558020 20 61595614 [T/C] NM_022082 SLC17A9 EXON Missense_A286V exm2234730 20 61595620 [T/C] NM_022082 SLC17A9 EXON Missense_P288L exm2254378 20 61595636 [T/C] NM_022082 SLC17A9 EXON Synonymous_S293S exm2254379 20 61596503 [A/G] NM_022082 SLC17A9 EXON Synonymous_V310V exm1558030 20 61596503 [A/G] NM_022082 SLC17A9 EXON Synonymous_V310V exm1558052 20 61598731 [T/C] NM_022082 SLC17A9 EXON Missense_T397M exm1558059 20 61637415 [A/G] NM_080606 BHLHE23 EXON Missense_H222Y exm1558122 20 61834169 [A/G] NM_017798 YTHDF1 EXON Missense_H375Y exm1558127 20 61834262 [A/C] NM_017798 YTHDF1 EXON Missense_A344S exm1971857 20 61834673 [T/C] NM_017798 YTHDF1 EXON Missense_V207I exm1558148 20 61834749 [G/C] NM_017798 YTHDF1 EXON Missense_N181K exm1558150 20 61834778 [T/C] NM_017798 YTHDF1 EXON Missense_D172N exm1558155 20 61834855 [A/G] NM_017798 YTHDF1 EXON Missense_A146V exm1558160 20 61834982 [T/C] NM_017798 YTHDF1 EXON Missense_V104I exm1558165 20 61835120 [T/C] NM_017798 YTHDF1 EXON Missense_S58G exm1558183 20 61867546 [A/G] NM_022161,NM_139317 BIRC7,BIRC7 EXON Missense_R33H,Missense_R33H exm1558192 20 61867626 [T/C] NM_022161,NM_139317 BIRC7,BIRC7 EXON Missense_R60W,Missense_R60W exm1558196 20 61867669 [T/C] NM_022161,NM_139317 BIRC7,BIRC7 EXON Missense_T74I,Missense_T74I exm1971864 20 61867699 [T/C] NM_022161,NM_139317 BIRC7,BIRC7 EXON Missense_M84T,Missense_M84T exm1558199 20 61867717 [A/G] NM_022161,NM_139317 BIRC7,BIRC7 EXON Missense_R90H,Missense_R90H exm1558201 20 61867782 [A/G] NM_022161,NM_139317 BIRC7,BIRC7 EXON Missense_G112S,Missense_G112S exm2254381 20 61869277 [T/C] NM_022161,NM_139317 BIRC7,BIRC7 EXON Synonymous_C124C,Synonymous_C124C exm1558207 20 61869315 [A/G] NM_022161,NM_139317 BIRC7,BIRC7 EXON Missense_G137E,Missense_G137E exm1558213 20 61869765 [A/G] NM_022161,NM_139317 BIRC7,BIRC7 EXON Missense_R156Q,Missense_R156Q exm1558215 20 61869789 [A/G] NM_022161,NM_139317 BIRC7,BIRC7 EXON Missense_H164R,Missense_H164R exm1558223 20 61869949 [C/G] NM_022161,NM_139317 BIRC7,BIRC7 EXON Missense_A187G,Missense_A187G exm2254382 20 61869956 [A/G] NM_022161,NM_139317 BIRC7,BIRC7 EXON Synonymous_V189V,Synonymous_V189V exm1558228 20 61870546 [T/C] NM_022161,NM_139317 BIRC7,BIRC7 EXON Missense_P204S,Missense_P204S exm1558229 20 61870553 [G/C] NM_022161,NM_139317 BIRC7,BIRC7 EXON Missense_R206T,Missense_R206T exm1558242 20 61870824 [T/G] NM_022161,NM_139317 BIRC7,BIRC7 EXON Missense_C237F,Missense_C255F exm1558244 20 61870838 [A/G] NM_022161,NM_139317 BIRC7,BIRC7 EXON Missense_V242M,Missense_V260M exm2234732 20 61872136 [T/C] NM_152864 NKAIN4 EXON Silent exm1558258 20 61873945 [A/G] NM_152864 NKAIN4 EXON Missense_P188L exm1558271 20 61878950 [A/C] NM_152864 NKAIN4 EXON Missense_C151G exm1558272 20 61879009 [T/G] NM_152864 NKAIN4 EXON Missense_A131D exm1558278 20 61879091 [A/G] NM_152864 NKAIN4 EXON Missense_R104C exm1558287 20 61880205 [T/C] NM_152864 NKAIN4 EXON Missense_I79V exm1558298 20 61881306 [T/C] NM_152864 NKAIN4 EXON Missense_R58Q exm1558300 20 61881322 [T/C] NM_152864 NKAIN4 EXON Missense_G53S exm1558303 20 61881363 [T/G] NM_152864 NKAIN4 EXON Missense_A39D exm1558305 20 61881402 [A/C] NM_152864 NKAIN4 EXON Missense_V26G exm-rs1406961 20 61895920 [A/C] exm1558314 20 61907468 [A/G] NM_018209,NM_175609 ARFGAP1,ARFGAP1 EXON Missense_N29S,Missense_N29S exm1558325 20 61908578 [A/G] NM_018209,NM_175609 ARFGAP1,ARFGAP1 EXON Missense_R122G,Missense_R122G exm1558335 20 61909542 [A/G] NM_018209,NM_175609 ARFGAP1,ARFGAP1 EXON Missense_G173S,Missense_G173S exm1558338 20 61910270 [A/G] NM_018209,NM_175609 ARFGAP1,ARFGAP1 EXON Missense_V184M,Missense_V184M exm2254383 20 61910293 [A/G] NM_018209,NM_175609 ARFGAP1,ARFGAP1 EXON Synonymous_P191P,Synonymous_P191P exm1558380 20 61917063 [A/G] NM_018209,NM_175609 ARFGAP1,ARFGAP1 EXON Missense_K278E,Missense_K288E exm1558399 20 61917730 [A/G] NM_018209,NM_175609 ARFGAP1,ARFGAP1 EXON Missense_G283S,Missense_G291S exm1558400 20 61917745 [T/C] NM_018209,NM_175609 ARFGAP1,ARFGAP1 EXON Missense_R288W,Missense_R296W exm1558411 20 61918917 [T/C] NM_018209,NM_175609 ARFGAP1,ARFGAP1 EXON Missense_P305S,Missense_P313S exm1558414 20 61918972 [A/G] NM_018209,NM_175609 ARFGAP1,ARFGAP1 EXON Missense_N323S,Missense_N331S exm1558415 20 61918977 [A/G] NM_018209,NM_175609 ARFGAP1,ARFGAP1 EXON Missense_D325N,Missense_D333N exm1558418 20 61919025 [T/C] NM_018209,NM_175609 ARFGAP1,ARFGAP1 EXON Missense_R341C,Missense_R349C exm1558420 20 61919035 [T/C] NM_018209,NM_175609 ARFGAP1,ARFGAP1 EXON Missense_P344L,Missense_P352L exm2234737 20 61919152 [A/G] NM_018209,NM_175609 ARFGAP1,ARFGAP1 EXON Missense_G383D,Missense_G391D exm1558427 20 61919179 [T/C] NM_018209,NM_175609 ARFGAP1,ARFGAP1 EXON Missense_P392L,Missense_P400L exm1558443 20 61929348 [A/C] NM_020882 COL20A1 EXON Missense_L57M exm1558445 20 61936864 [A/G] NM_020882 COL20A1 EXON Missense_E97K exm1558450 20 61937296 [T/C] NM_020882 COL20A1 EXON Missense_P134L exm1558455 20 61938856 [T/C] NM_020882 COL20A1 EXON Missense_R171C exm1558472 20 61939410 [A/G] NM_020882 COL20A1 EXON Missense_R248H exm1558474 20 61939424 [A/G] NM_020882 COL20A1 EXON Missense_G253R exm1558477 20 61939929 [G/C] NM_020882 COL20A1 EXON Missense_Q271E exm1558502 20 61941785 [A/G] NM_020882 COL20A1 EXON Missense_R439H exm1558504 20 61942758 [T/C] NM_020882 COL20A1 EXON Missense_P469L exm1558515 20 61943283 [T/C] NM_020882 COL20A1 EXON Missense_P560L exm1558521 20 61943325 [A/G] NM_020882 COL20A1 EXON Missense_R574Q exm1558528 20 61943803 [T/C] NM_020882 COL20A1 EXON Missense_T612M exm1558530 20 61943809 [A/G] NM_020882 COL20A1 EXON Missense_G614E exm1558533 20 61943835 [A/G] NM_020882 COL20A1 EXON Missense_T623A exm1558535 20 61943889 [T/C] NM_020882 COL20A1 EXON Missense_R641W exm1558536 20 61944156 [A/G] NM_020882 COL20A1 EXON Missense_S649N exm1558537 20 61944177 [T/C] NM_020882 COL20A1 EXON Missense_T656M exm1558541 20 61944243 [A/G] NM_020882 COL20A1 EXON Missense_Y678C exm1558545 20 61944494 [T/C] NM_020882 COL20A1 EXON Missense_T701M exm1558558 20 61945230 [A/G] NM_020882 COL20A1 EXON Missense_G782E exm1972018 20 61945244 [A/G] NM_020882 COL20A1 Silent exm1558560 20 61945439 [C/G] NM_020882 COL20A1 EXON Missense_A792P exm1558570 20 61946771 [A/G] NM_020882 COL20A1 EXON Missense_R835H exm1558584 20 61950435 [T/C] NM_020882 COL20A1 EXON Missense_P897S exm1558589 20 61950484 [A/G] NM_020882 COL20A1 EXON Missense_R913H exm1558595 20 61950841 [A/G] NM_020882 COL20A1 EXON Missense_G937R exm1558628 20 61956811 [A/G] NM_020882 COL20A1 EXON Missense_G1105R exm1558641 20 61957469 [A/G] NM_020882 COL20A1 EXON Missense_T1142A exm1558661 20 61959712 [A/G] NM_020882 COL20A1 EXON Missense_E1215K exm1558662 20 61959719 [T/C] NM_020882 COL20A1 EXON Missense_T1217I exm1558666 20 61959758 [T/C] NM_020882 COL20A1 EXON Missense_P1230L exm1558673 20 61960936 [A/G] NM_020882 COL20A1 Silent exm1558674 20 61960961 [T/C] NM_020882 COL20A1 EXON Missense_M1269T exm1972074 20 61960975 [T/C] NM_020882 COL20A1 EXON Nonsense_Q1274X exm1972075 20 61960994 [A/T] NM_020882 COL20A1 EXON Missense_Q1280L exm1558684 20 61981048 [T/C] NM_000744,NM_001256573,NR_046317 CHRNA4,CHRNA4,CHRNA4 EXON Missense_Q572R,Missense_Q396R,Silent exm1558707 20 61981303 [T/C] NM_000744,NM_001256573,NR_046317 CHRNA4,CHRNA4,CHRNA4 EXON Missense_R487Q,Missense_R311Q,Silent exm1558709 20 61981315 [T/C] NM_000744,NM_001256573,NR_046317 CHRNA4,CHRNA4,CHRNA4 EXON Missense_R483Q,Missense_R307Q,Silent exm1558710 20 61981322 [T/C] NM_000744,NM_001256573,NR_046317 CHRNA4,CHRNA4,CHRNA4 EXON Missense_G481S,Missense_G305S,Silent exm1558733 20 61981603 [T/C] NM_000744,NM_001256573,NR_046317 CHRNA4,CHRNA4,CHRNA4 EXON Missense_E387G,Missense_E211G,Silent exm1558742 20 61981730 [A/G] NM_000744,NM_001256573,NR_046317 CHRNA4,CHRNA4,CHRNA4 EXON Missense_R345C,Missense_R169C,Silent exm1558745 20 61981757 [A/G] NM_000744,NM_001256573,NR_046317 CHRNA4,CHRNA4,CHRNA4 EXON Missense_R336C,Missense_R160C,Silent exm1558771 20 61982210 [T/C] NM_000744,NM_001256573,NR_046317 CHRNA4,CHRNA4,CHRNA4 EXON Missense_D185N,Missense_D9N,Silent exm1558792 20 61987414 [T/C] NM_000744,NM_001256573,NR_046317 CHRNA4,CHRNA4,CHRNA4 EXON Missense_R99H,Silent,Silent exm1558794 20 61987436 [C/G] NM_000744,NM_001256573,NR_046317 CHRNA4,CHRNA4,CHRNA4 EXON Missense_E92Q,Silent,Silent exm2254385 20 61990939 [A/G] NM_000744,NM_001256573,NR_046317 CHRNA4,CHRNA4,CHRNA4 EXON Synonymous_L63L,Silent,Silent exm1558832 20 62038277 [T/G] NM_172107,NM_004518,NM_172106,NM_172108 KCNQ2,KCNQ2,KCNQ2,KCNQ2 EXON Missense_N780T,Missense_N752T,Missense_N762T,Missense_N749T exm1558846 20 62038551 [T/G] NM_172107,NM_004518,NM_172106,NM_172108 KCNQ2,KCNQ2,KCNQ2,KCNQ2 EXON Missense_I689L,Missense_I661L,Missense_I671L,Missense_I658L exm2254386 20 62044847 [A/G] NM_172107,NM_004518,NM_172106,NM_172108 KCNQ2,KCNQ2,KCNQ2,KCNQ2 EXON Synonymous_A573A,Synonymous_A545A,Synonymous_A555A,Synonymous_A542A exm1972130 20 62045527 [G/C] NM_172107,NM_004518,NM_172106,NM_172108 KCNQ2,KCNQ2,KCNQ2,KCNQ2 EXON Missense_E515D,Missense_E487D,Missense_E497D,Missense_E484D exm1558886 20 62046433 [T/C] NM_172107,NM_004518,NM_172106,NM_172108 KCNQ2,KCNQ2,KCNQ2,KCNQ2 EXON Missense_V450M,Missense_V422M,Missense_V432M,Missense_V420M exm2234745 20 62051020 [A/C] NM_172107,NM_004518,NM_172106,NM_172108 KCNQ2,KCNQ2,KCNQ2,KCNQ2 EXON Missense_G418V,Silent,Silent,Silent exm1972145 20 62065116 [T/A] NM_172107,NM_004518,NM_172106,NM_172108,NM_172109 KCNQ2,KCNQ2,KCNQ2,KCNQ2,KCNQ2 EXON Silent,Silent,Silent,Silent,Missense_L388F exm1558956 20 62119777 [T/G] NM_001958 EEF1A2 EXON Synonymous_G422G exm2254387 20 62124590 [A/G] NM_001958 EEF1A2 EXON Synonymous_S224S exm1559029 20 62152687 [T/C] NM_024299 PPDPF EXON Missense_S9L exm1559048 20 62153135 [T/C] NM_024299 PPDPF EXON Missense_A83V exm1559058 20 62160896 [A/G] NM_005975,NM_001256358 PTK6,PTK6 EXON Missense_P450L,Silent exm1559063 20 62160939 [T/C] NM_005975,NM_001256358 PTK6,PTK6 EXON Missense_A436T,Silent exm1559065 20 62161012 [A/C] NM_005975,NM_001256358 PTK6,PTK6 EXON Missense_E411D,Silent exm1559073 20 62161512 [A/G] NM_005975,NM_001256358 PTK6,PTK6 EXON Missense_H363Y,Silent exm1559083 20 62162152 [T/C] NM_005975,NM_001256358 PTK6,PTK6 EXON Missense_G321R,Silent exm1559102 20 62163983 [T/C] NM_005975,NM_001256358 PTK6,PTK6 EXON Missense_R243Q,Silent exm1559103 20 62163984 [A/G] NM_005975,NM_001256358 PTK6,PTK6 EXON Missense_R243W,Silent exm1559116 20 62165504 [A/C] NM_005975,NM_001256358 PTK6,PTK6 Silent,Silent exm1559118 20 62165528 [A/G] NM_005975,NM_001256358 PTK6,PTK6 EXON Missense_R165W,Missense_A124V exm1559124 20 62165596 [A/G] NM_005975,NM_001256358 PTK6,PTK6 EXON Missense_A142V,Synonymous_G101G exm1559130 20 62165647 [T/C] NM_005975,NM_001256358 PTK6,PTK6 EXON Missense_R125Q,Synonymous_A84A exm1559149 20 62168437 [T/C] NM_005975,NM_001256358 PTK6,PTK6 Silent,Silent exm1972233 20 62168569 [G/C] NM_005975,NM_001256358 PTK6,PTK6 EXON Missense_D33E,Missense_D33E exm1559161 20 62168604 [A/G] NM_005975,NM_001256358 PTK6,PTK6 EXON Missense_R22W,Missense_R22W exm1559162 20 62168633 [T/G] NM_005975,NM_001256358 PTK6,PTK6 EXON Missense_K12T,Missense_K12T exm1559164 20 62172179 [A/G] NM_080823 SRMS EXON Missense_H487Y exm1559172 20 62172244 [G/C] NM_080823 SRMS EXON Missense_S465T exm1559173 20 62172269 [A/C] NM_080823 SRMS EXON Missense_V457L exm1559174 20 62172281 [T/C] NM_080823 SRMS EXON Missense_A453T exm1972243 20 62172564 [T/C] NM_080823 SRMS EXON Missense_Y422C exm1559188 20 62172639 [A/G] NM_080823 SRMS EXON Missense_A397V exm1559195 20 62172803 [A/G] NM_080823 SRMS EXON Missense_R373W exm1559206 20 62173587 [T/C] NM_080823 SRMS EXON Missense_C292Y exm1559217 20 62173672 [T/C] NM_080823 SRMS EXON Missense_N264D exm1559221 20 62173813 [A/G] NM_080823 SRMS EXON Missense_A256V exm1559222 20 62173817 [T/C] NM_080823 SRMS EXON Missense_V255M exm1559225 20 62173885 [A/C] NM_080823 SRMS EXON Missense_L232R exm1559229 20 62173916 [T/C] NM_080823 SRMS EXON Missense_V222M exm2260965 20 62173925 [T/G] NM_080823 SRMS EXON Synonymous_R219R exm1559232 20 62174680 [C/G] NM_080823 SRMS EXON Missense_P211R exm1559236 20 62174803 [T/C] NM_080823 SRMS EXON Missense_R170Q exm1559238 20 62174831 [A/G] NM_080823 SRMS EXON Missense_R161W exm1559244 20 62175688 [T/C] NM_080823 SRMS EXON Missense_G124R exm1559245 20 62178461 [A/G] NM_080823 SRMS EXON Missense_P119L exm1559246 20 62178483 [G/C] NM_080823 SRMS EXON Missense_P112A exm1559250 20 62178513 [T/C] NM_080823 SRMS EXON Missense_V102M exm1559261 20 62178561 [T/C] NM_080823 SRMS EXON Missense_G86S exm1559265 20 62178594 [T/C] NM_080823 SRMS EXON Missense_G75R exm1559273 20 62178623 [T/C] NM_080823 SRMS EXON Missense_R65Q exm1559279 20 62178681 [T/C] NM_080823 SRMS EXON Missense_A46T exm1559283 20 62178761 [A/G] NM_080823 SRMS EXON Missense_I19T exm1559286 20 62187126 [T/C] NM_024059 C20orf195 EXON Missense_A37V exm1559295 20 62187204 [A/G] NM_024059 C20orf195 EXON Missense_R63H exm1559298 20 62187230 [T/C] NM_024059 C20orf195 EXON Missense_R72C exm1559304 20 62187395 [A/G] NM_024059 C20orf195 EXON Missense_G127R exm1559321 20 62187669 [T/C] NM_024059 C20orf195 EXON Missense_A218V exm1559328 20 62187743 [T/C] NM_024059 C20orf195 EXON Missense_R243C exm1559329 20 62187744 [T/G] NM_024059 C20orf195 EXON Missense_R243L exm1559350 20 62190628 [T/C] NM_001037335,NM_033405 HELZ2,HELZ2 EXON Missense_V2641I,Missense_V2072I exm1559352 20 62190630 [T/C] NM_001037335,NM_033405 HELZ2,HELZ2 EXON Missense_R2640H,Missense_R2071H exm1559353 20 62190631 [A/G] NM_001037335,NM_033405 HELZ2,HELZ2 EXON Missense_R2640C,Missense_R2071C exm1559357 20 62190657 [T/C] NM_001037335,NM_033405 HELZ2,HELZ2 EXON Missense_Q2631R,Missense_Q2062R exm1559363 20 62190688 [A/G] NM_001037335,NM_033405 HELZ2,HELZ2 EXON Missense_R2621C,Missense_R2052C exm1559365 20 62190706 [A/G] NM_001037335,NM_033405 HELZ2,HELZ2 EXON Missense_R2615C,Missense_R2046C exm1559368 20 62191282 [A/G] NM_001037335,NM_033405 HELZ2,HELZ2 EXON Synonymous_I2608I,Synonymous_I2039I exm1559372 20 62191383 [A/G] NM_001037335,NM_033405 HELZ2,HELZ2 EXON Missense_R2575W,Missense_R2006W exm1972301 20 62191410 [T/C] NM_001037335,NM_033405 HELZ2,HELZ2 EXON Missense_T2566A,Missense_T1997A exm1559384 20 62191557 [T/C] NM_001037335,NM_033405 HELZ2,HELZ2 EXON Missense_G2542R,Missense_G1973R exm1559391 20 62191644 [T/C] NM_001037335,NM_033405 HELZ2,HELZ2 EXON Missense_V2513I,Missense_V1944I exm1559393 20 62191849 [T/C] NM_001037335,NM_033405 HELZ2,HELZ2 EXON Missense_E2495K,Missense_E1926K exm1559403 20 62191974 [A/G] NM_001037335,NM_033405 HELZ2,HELZ2 EXON Missense_P2453L,Missense_P1884L exm1559411 20 62192183 [T/C] NM_001037335,NM_033405 HELZ2,HELZ2 EXON Missense_E2416K,Missense_E1847K exm1559412 20 62192215 [T/C] NM_001037335,NM_033405 HELZ2,HELZ2 EXON Missense_G2405D,Missense_G1836D exm1559416 20 62192251 [T/C] NM_001037335,NM_033405 HELZ2,HELZ2 EXON Missense_R2393Q,Missense_R1824Q exm1559424 20 62192500 [T/C] NM_001037335,NM_033405 HELZ2,HELZ2 EXON Missense_E2361K,Missense_E1792K exm1559436 20 62192969 [A/G] NM_001037335,NM_033405 HELZ2,HELZ2 EXON Missense_P2274L,Missense_P1705L exm1559438 20 62192982 [C/G] NM_001037335,NM_033405 HELZ2,HELZ2 EXON Missense_R2270G,Missense_R1701G exm1559449 20 62193253 [T/G] NM_001037335,NM_033405 HELZ2,HELZ2 EXON Missense_P2205H,Missense_P1636H exm1559459 20 62193445 [A/G] NM_001037335,NM_033405 HELZ2,HELZ2 EXON Missense_T2170M,Missense_T1601M exm1559462 20 62193478 [A/G] NM_001037335,NM_033405 HELZ2,HELZ2 EXON Missense_V2159A,Missense_V1590A exm1559482 20 62193999 [T/C] NM_001037335,NM_033405 HELZ2,HELZ2 EXON Missense_R2059Q,Missense_R1490Q exm1559483 20 62194000 [A/G] NM_001037335,NM_033405 HELZ2,HELZ2 EXON Missense_R2059W,Missense_R1490W exm1972344 20 62194008 [T/C] NM_001037335,NM_033405 HELZ2,HELZ2 EXON Missense_R2056Q,Missense_R1487Q exm1559484 20 62194011 [T/C] NM_001037335,NM_033405 HELZ2,HELZ2 EXON Missense_R2055H,Missense_R1486H exm1559495 20 62194128 [A/G] NM_001037335,NM_033405 HELZ2,HELZ2 EXON Missense_P2016L,Missense_P1447L exm1559500 20 62194200 [C/G] NM_001037335,NM_033405 HELZ2,HELZ2 EXON Missense_A1992G,Missense_A1423G exm1972352 20 62194245 [T/C] NM_001037335,NM_033405 HELZ2,HELZ2 EXON Missense_R1977Q,Missense_R1408Q exm1559506 20 62194251 [A/G] NM_001037335,NM_033405 HELZ2,HELZ2 EXON Missense_A1975V,Missense_A1406V exm1559509 20 62194291 [T/C] NM_001037335,NM_033405 HELZ2,HELZ2 EXON Missense_D1962N,Missense_D1393N exm2234757 20 62194360 [T/C] NM_001037335,NM_033405 HELZ2,HELZ2 EXON Missense_D1939N,Missense_D1370N exm1559518 20 62194374 [T/C] NM_001037335,NM_033405 HELZ2,HELZ2 EXON Missense_R1934Q,Missense_R1365Q exm1972354 20 62194464 [A/G] NM_001037335,NM_033405 HELZ2,HELZ2 EXON Missense_T1904M,Missense_T1335M exm1559525 20 62194510 [T/C] NM_001037335,NM_033405 HELZ2,HELZ2 EXON Missense_T1889A,Missense_T1320A exm1559555 20 62195220 [T/C] NM_001037335,NM_033405 HELZ2,HELZ2 EXON Missense_R1652Q,Missense_R1083Q exm1559564 20 62195269 [A/G] NM_001037335,NM_033405 HELZ2,HELZ2 EXON Missense_R1636C,Missense_R1067C exm1559565 20 62195344 [A/G] NM_001037335,NM_033405 HELZ2,HELZ2 EXON Missense_R1611C,Missense_R1042C exm1972360 20 62195426 [G/C] NM_001037335,NM_033405 HELZ2,HELZ2 EXON Missense_H1583Q,Missense_H1014Q exm1559571 20 62195455 [T/C] NM_001037335,NM_033405 HELZ2,HELZ2 EXON Missense_V1574M,Missense_V1005M exm1559573 20 62195466 [T/C] NM_001037335,NM_033405 HELZ2,HELZ2 EXON Missense_H1570R,Missense_H1001R exm1559579 20 62195538 [A/G] NM_001037335,NM_033405 HELZ2,HELZ2 EXON Missense_T1546M,Missense_T977M exm1559581 20 62195617 [T/C] NM_001037335,NM_033405 HELZ2,HELZ2 EXON Missense_A1520T,Missense_A951T exm1559599 20 62195778 [T/C] NM_001037335,NM_033405 HELZ2,HELZ2 EXON Missense_R1466K,Missense_R897K exm1559601 20 62195814 [T/C] NM_001037335,NM_033405 HELZ2,HELZ2 EXON Missense_R1454H,Missense_R885H exm1559602 20 62195815 [A/G] NM_001037335,NM_033405 HELZ2,HELZ2 EXON Missense_R1454C,Missense_R885C exm1559603 20 62195830 [T/C] NM_001037335,NM_033405 HELZ2,HELZ2 EXON Missense_V1449M,Missense_V880M exm1559606 20 62195910 [T/C] NM_001037335,NM_033405 HELZ2,HELZ2 EXON Missense_R1422Q,Missense_R853Q exm1559611 20 62196007 [A/G] NM_001037335,NM_033405 HELZ2,HELZ2 EXON Nonsense_R1390X,Nonsense_R821X exm1559617 20 62196033 [T/C] NM_001037335,NM_033405 HELZ2,HELZ2 EXON Missense_R1381K,Missense_R812K exm1972368 20 62196096 [T/C] NM_001037335,NM_033405 HELZ2,HELZ2 EXON Missense_R1360Q,Missense_R791Q exm1559626 20 62196201 [A/G] NM_001037335,NM_033405 HELZ2,HELZ2 EXON Missense_T1325M,Missense_T756M exm1559627 20 62196253 [A/C] NM_001037335,NM_033405 HELZ2,HELZ2 EXON Missense_V1308L,Missense_V739L exm1559636 20 62196413 [G/C] NM_001037335,NM_033405 HELZ2,HELZ2 EXON Missense_R1254S,Missense_R685S exm1559638 20 62196442 [T/C] NM_001037335,NM_033405 HELZ2,HELZ2 EXON Missense_G1245S,Missense_G676S exm1559640 20 62196448 [A/G] NM_001037335,NM_033405 HELZ2,HELZ2 EXON Missense_R1243W,Missense_R674W exm1559647 20 62196574 [T/C] NM_001037335,NM_033405 HELZ2,HELZ2 EXON Missense_E1201K,Missense_E632K exm1972377 20 62196600 [A/C] NM_001037335,NM_033405 HELZ2,HELZ2 EXON Missense_L1192R,Missense_L623R exm1559650 20 62196625 [T/C] NM_001037335,NM_033405 HELZ2,HELZ2 EXON Missense_E1184K,Missense_E615K exm1559653 20 62196648 [A/G] NM_001037335,NM_033405 HELZ2,HELZ2 EXON Missense_L1176P,Missense_L607P exm1559655 20 62196661 [T/C] NM_001037335,NM_033405 HELZ2,HELZ2 EXON Missense_V1172M,Missense_V603M exm1559659 20 62196720 [A/G] NM_001037335,NM_033405 HELZ2,HELZ2 EXON Missense_S1152L,Missense_S583L exm1559666 20 62196807 [T/C] NM_001037335,NM_033405 HELZ2,HELZ2 EXON Missense_H1123R,Missense_H554R exm1559668 20 62196819 [T/C] NM_001037335,NM_033405 HELZ2,HELZ2 EXON Missense_R1119Q,Missense_R550Q exm1559670 20 62196853 [A/G] NM_001037335,NM_033405 HELZ2,HELZ2 EXON Missense_R1108W,Missense_R539W exm1559676 20 62196934 [T/C] NM_001037335,NM_033405 HELZ2,HELZ2 EXON Missense_E1081K,Missense_E512K exm1559680 20 62196987 [A/G] NM_001037335,NM_033405 HELZ2,HELZ2 EXON Missense_P1063L,Missense_P494L exm1559686 20 62197089 [A/G] NM_001037335,NM_033405 HELZ2,HELZ2 EXON Missense_A1029V,Missense_A460V exm1559690 20 62197125 [A/G] NM_001037335,NM_033405 HELZ2,HELZ2 EXON Missense_A1017V,Missense_A448V exm2234759 20 62197178 [A/C] NM_001037335,NM_033405 HELZ2,HELZ2 EXON Missense_E999D,Missense_E430D exm1559698 20 62197300 [A/G] NM_001037335,NM_033405 HELZ2,HELZ2 EXON Missense_R959W,Missense_R390W exm1559704 20 62197390 [T/C] NM_001037335,NM_033405 HELZ2,HELZ2 EXON Missense_E929K,Missense_E360K exm1559718 20 62198241 [T/C] NM_001037335,NM_033405 HELZ2,HELZ2 EXON Missense_G824S,Missense_G255S exm1559720 20 62198271 [T/C] NM_001037335,NM_033405 HELZ2,HELZ2 EXON Missense_A814T,Missense_A245T exm1559722 20 62198297 [A/G] NM_001037335,NM_033405 HELZ2,HELZ2 EXON Missense_A805V,Missense_A236V exm1559723 20 62198324 [A/G] NM_001037335,NM_033405 HELZ2,HELZ2 EXON Missense_A796V,Missense_A227V exm1559726 20 62198348 [T/C] NM_001037335,NM_033405 HELZ2,HELZ2 EXON Missense_S788N,Missense_S219N exm1559738 20 62198450 [A/G] NM_001037335,NM_033405 HELZ2,HELZ2 EXON Missense_S754L,Missense_S185L exm1972398 20 62198523 [T/C] NM_001037335,NM_033405 HELZ2,HELZ2 EXON Missense_E730K,Missense_E161K exm1559743 20 62198553 [C/G] NM_001037335,NM_033405 HELZ2,HELZ2 EXON Missense_L720V,Missense_L151V exm2254389 20 62198578 [T/C] NM_001037335,NM_033405 HELZ2,HELZ2 EXON Synonymous_A711A,Synonymous_A142A exm1559768 20 62198808 [A/G] NM_001037335,NM_033405 HELZ2,HELZ2 EXON Missense_R635W,Missense_R66W exm1559771 20 62198819 [T/C] NM_001037335,NM_033405 HELZ2,HELZ2 EXON Missense_R631H,Missense_R62H exm1559773 20 62198833 [G/C] NM_001037335,NM_033405 HELZ2,HELZ2 EXON Missense_D626E,Missense_D57E exm1559780 20 62198961 [A/G] NM_001037335,NM_033405 HELZ2,HELZ2 EXON Missense_R584W,Missense_R15W exm1972408 20 62198984 [T/C] NM_001037335,NM_033405 HELZ2,HELZ2 EXON Silent,Missense_R7H exm1559788 20 62199837 [A/C] NM_001037335 HELZ2 EXON Missense_R535M exm1559789 20 62199849 [A/G] NM_001037335 HELZ2 EXON Missense_P531L exm1559793 20 62199892 [A/G] NM_001037335 HELZ2 EXON Missense_R517C exm1559796 20 62199937 [T/C] NM_001037335 HELZ2 EXON Missense_A502T exm1972411 20 62200017 [A/G] NM_001037335 HELZ2 EXON Missense_P475L exm1559804 20 62200155 [A/G] NM_001037335 HELZ2 EXON Missense_T429M exm1559807 20 62200164 [A/G] NM_001037335 HELZ2 EXON Missense_P426L exm1559809 20 62200204 [A/G] NM_001037335 HELZ2 EXON Missense_R413W exm1559811 20 62200241 [A/G] NM_001037335 HELZ2 EXON Synonymous_S400S exm2254390 20 62200241 [A/G] NM_001037335 HELZ2 EXON Synonymous_S400S exm1559819 20 62200285 [T/C] NM_001037335 HELZ2 EXON Missense_A386T exm1559827 20 62200576 [A/G] NM_001037335 HELZ2 EXON Missense_S338L exm1559829 20 62200604 [A/G] NM_001037335 HELZ2 EXON Missense_R329C exm1559830 20 62200627 [A/G] NM_001037335 HELZ2 EXON Missense_P321L exm1559836 20 62200738 [A/G] NM_001037335 HELZ2 EXON Missense_A284V exm1559844 20 62200871 [A/G] NM_001037335 HELZ2 EXON Missense_R240C exm1559845 20 62200909 [T/C] NM_001037335 HELZ2 EXON Missense_R227H exm1559873 20 62202144 [A/G] NM_001037335 HELZ2 EXON Missense_T119M exm1559874 20 62202150 [T/C] NM_001037335 HELZ2 EXON Missense_R117Q exm1559886 20 62203597 [T/G] NM_001037335 HELZ2 EXON Missense_T48P exm1559895 20 62203708 [T/C] NM_001037335 HELZ2 EXON Missense_G11S exm1559921 20 62221810 [T/C] NM_012384 GMEB2 EXON Missense_V409I exm1559952 20 62223988 [T/C] NM_012384 GMEB2 EXON Missense_A243T exm1559959 20 62226971 [A/G] NM_012384 GMEB2 EXON Missense_A204V exm1559964 20 62227062 [T/G] NM_012384 GMEB2 EXON Missense_T174P exm2276729 20 62229208 [A/G] NM_012384 GMEB2 EXON Synonymous_D121D exm1559986 20 62250651 [T/C] NM_012384 GMEB2 EXON Missense_V34M exm-rs2039369 20 62253821 [T/C] NM_012384 GMEB2 Silent exm1560042 20 62292793 [T/C] NM_032957,NR_037882,NM_016434 RTEL1,RTEL1-TNFRSF6B,RTEL1 EXON Missense_P82L,Silent,Missense_P82L exm1972500 20 62293235 [A/G] NM_032957,NR_037882,NM_016434 RTEL1,RTEL1-TNFRSF6B,RTEL1 EXON Missense_A112T,Silent,Missense_A112T exm1560047 20 62293272 [A/G] NM_032957,NR_037882,NM_016434 RTEL1,RTEL1-TNFRSF6B,RTEL1 EXON Missense_N124S,Silent,Missense_N124S exm1560053 20 62293862 [T/C] NM_032957,NR_037882,NM_016434 RTEL1,RTEL1-TNFRSF6B,RTEL1 EXON Missense_T144I,Silent,Silent exm1972510 20 62294237 [T/C] NM_032957,NR_037882,NM_016434 RTEL1,RTEL1-TNFRSF6B,RTEL1 EXON Missense_V202A,Silent,Missense_V178A exm1560072 20 62303927 [A/G] NM_032957,NR_037882,NM_016434 RTEL1,RTEL1-TNFRSF6B,RTEL1 EXON Missense_I264V,Silent,Missense_I240V exm1560080 20 62305396 [T/C] NM_032957,NR_037882,NM_016434 RTEL1,RTEL1-TNFRSF6B,RTEL1 EXON Missense_A314V,Silent,Missense_A290V exm1560084 20 62305427 [C/G] NM_032957,NR_037882,NM_016434 RTEL1,RTEL1-TNFRSF6B,RTEL1 EXON Missense_S324R,Silent,Missense_S300R exm1560085 20 62305428 [A/G] NM_032957,NR_037882,NM_016434 RTEL1,RTEL1-TNFRSF6B,RTEL1 EXON Missense_A325T,Silent,Missense_A301T exm1560095 20 62309621 [T/C] NM_032957,NR_037882,NM_016434 RTEL1,RTEL1-TNFRSF6B,RTEL1 EXON Missense_M344T,Silent,Missense_M320T exm1560097 20 62309633 [A/G] NM_032957,NR_037882,NM_016434 RTEL1,RTEL1-TNFRSF6B,RTEL1 EXON Missense_R348H,Silent,Missense_R324H exm1560104 20 62309680 [A/G] NM_032957,NR_037882,NM_016434 RTEL1,RTEL1-TNFRSF6B,RTEL1 EXON Missense_G364S,Silent,Missense_G340S exm-rs6010620 20 62309839 [A/G] NM_032957,NR_037882,NM_016434 RTEL1,RTEL1-TNFRSF6B,RTEL1 Silent,Silent,Silent exm1560108 20 62312059 [T/C] NM_032957,NR_037882,NM_016434 RTEL1,RTEL1-TNFRSF6B,RTEL1 EXON Missense_A417V,Silent,Missense_A393V exm1560109 20 62312070 [G/C] NM_032957,NR_037882,NM_016434 RTEL1,RTEL1-TNFRSF6B,RTEL1 EXON Missense_Q421E,Silent,Missense_Q397E exm1560114 20 62316889 [T/C] NM_032957,NR_037882,NM_016434 RTEL1,RTEL1-TNFRSF6B,RTEL1 EXON Missense_V426A,Silent,Missense_V402A exm1560118 20 62317178 [T/C] NM_032957,NR_037882,NM_016434 RTEL1,RTEL1-TNFRSF6B,RTEL1 EXON Missense_T458M,Silent,Missense_T434M exm-rs4809324 20 62318220 [T/C] NM_032957,NR_037882,NM_016434 RTEL1,RTEL1-TNFRSF6B,RTEL1 Silent,Silent,Silent exm1560151 20 62319885 [A/G] NM_032957,NR_037882,NM_016434 RTEL1,RTEL1-TNFRSF6B,RTEL1 EXON Missense_R600H,Silent,Missense_R576H exm1560172 20 62320931 [T/C] NM_032957,NR_037882,NM_016434 RTEL1,RTEL1-TNFRSF6B,RTEL1 EXON Missense_M676T,Silent,Missense_M652T exm1560185 20 62321444 [A/G] NM_032957,NR_037882,NM_016434 RTEL1,RTEL1-TNFRSF6B,RTEL1 EXON Missense_A740T,Silent,Missense_A716T exm1560194 20 62321559 [A/G] NM_032957,NR_037882,NM_016434 RTEL1,RTEL1-TNFRSF6B,RTEL1 EXON Missense_R778Q,Silent,Missense_R754Q exm1560209 20 62322188 [T/G] NM_032957,NR_037882,NM_016434 RTEL1,RTEL1-TNFRSF6B,RTEL1 EXON Missense_S839I,Silent,Missense_S815I exm1560211 20 62322214 [T/C] NM_032957,NR_037882,NM_016434 RTEL1,RTEL1-TNFRSF6B,RTEL1 EXON Missense_P848S,Silent,Missense_P824S exm1560218 20 62322290 [A/G] NM_032957,NR_037882,NM_016434 RTEL1,RTEL1-TNFRSF6B,RTEL1 EXON Missense_G873D,Silent,Missense_G849D exm1560219 20 62323138 [T/C] NM_032957,NR_037882,NM_016434 RTEL1,RTEL1-TNFRSF6B,RTEL1 EXON Missense_P891L,Silent,Missense_P867L exm1560220 20 62323150 [T/C] NM_032957,NR_037882,NM_016434 RTEL1,RTEL1-TNFRSF6B,RTEL1 EXON Missense_P895L,Silent,Missense_P871L exm1560231 20 62324183 [T/C] NM_032957,NR_037882,NM_016434 RTEL1,RTEL1-TNFRSF6B,RTEL1 EXON Missense_T917M,Silent,Missense_T893M exm1560247 20 62324315 [T/C] NM_032957,NR_037882,NM_016434 RTEL1,RTEL1-TNFRSF6B,RTEL1 EXON Missense_P961L,Silent,Missense_P937L exm1560248 20 62324328 [C/G] NM_032957,NR_037882,NM_016434 RTEL1,RTEL1-TNFRSF6B,RTEL1 EXON Missense_E965D,Silent,Missense_E941D exm1560249 20 62324329 [A/G] NM_032957,NR_037882,NM_016434 RTEL1,RTEL1-TNFRSF6B,RTEL1 EXON Missense_D966N,Silent,Missense_D942N exm1972582 20 62324333 [G/C] NM_032957,NR_037882,NM_016434 RTEL1,RTEL1-TNFRSF6B,RTEL1 EXON Missense_P967R,Silent,Missense_P943R exm1560256 20 62324542 [C/G] NM_032957,NR_037882,NM_016434 RTEL1,RTEL1-TNFRSF6B,RTEL1 EXON Missense_E990D,Silent,Missense_E966D exm1560265 20 62324609 [T/C] NM_032957,NR_037882,NM_016434 RTEL1,RTEL1-TNFRSF6B,RTEL1 EXON Missense_R1013W,Silent,Missense_R989W exm1560267 20 62324619 [T/C] NM_032957,NR_037882,NM_016434 RTEL1,RTEL1-TNFRSF6B,RTEL1 EXON Missense_P1016L,Silent,Missense_P992L exm1972609 20 62325796 [G/C] NM_032957,NR_037882,NM_016434 RTEL1,RTEL1-TNFRSF6B,RTEL1 EXON Missense_L1046V,Silent,Missense_L1022V exm1560287 20 62325812 [T/C] NM_032957,NR_037882,NM_016434 RTEL1,RTEL1-TNFRSF6B,RTEL1 EXON Missense_P1051L,Silent,Missense_P1027L exm1560289 20 62325833 [A/C] NM_032957,NR_037882,NM_016434 RTEL1,RTEL1-TNFRSF6B,RTEL1 EXON Missense_P1058H,Silent,Missense_P1034H exm1560292 20 62326110 [A/C] NM_032957,NR_037882,NM_016434 RTEL1,RTEL1-TNFRSF6B,RTEL1 EXON Missense_Q1066H,Silent,Missense_Q1042H exm1560295 20 62326159 [A/G] NM_032957,NR_037882,NM_016434 RTEL1,RTEL1-TNFRSF6B,RTEL1 EXON Missense_A1083T,Silent,Missense_A1059T exm1560301 20 62326235 [T/C] NM_032957,NR_037882,NM_016434 RTEL1,RTEL1-TNFRSF6B,RTEL1 EXON Missense_T1108I,Silent,Missense_T1084I exm1560313 20 62326482 [C/G] NM_032957,NR_037882,NM_016434 RTEL1,RTEL1-TNFRSF6B,RTEL1 EXON Missense_T1160S,Silent,Missense_T1136S exm1560316 20 62326497 [T/C] NM_032957,NR_037882,NM_016434 RTEL1,RTEL1-TNFRSF6B,RTEL1 EXON Missense_P1165L,Silent,Missense_P1141L exm1560323 20 62326538 [A/G] NM_032957,NR_037882,NM_016434 RTEL1,RTEL1-TNFRSF6B,RTEL1 EXON Missense_V1179M,Silent,Missense_V1155M exm1560326 20 62326681 [A/G] NM_032957,NR_037882,NM_016434 RTEL1,RTEL1-TNFRSF6B,RTEL1 EXON Missense_G1191D,Silent,Missense_G1167D exm1560327 20 62326686 [T/C] NM_032957,NR_037882,NM_016434 RTEL1,RTEL1-TNFRSF6B,RTEL1 EXON Missense_S1193P,Silent,Missense_S1169P exm1560333 20 62326729 [T/C] NM_032957,NR_037882,NM_016434 RTEL1,RTEL1-TNFRSF6B,RTEL1 EXON Missense_S1207F,Silent,Missense_S1183F exm1560371 20 62328236 [A/G] NR_037882,NM_003823 RTEL1-TNFRSF6B,TNFRSF6B EXON Silent,Missense_R39Q exm1972642 20 62328380 [A/G] NR_037882,NM_003823 RTEL1-TNFRSF6B,TNFRSF6B EXON Silent,Missense_R87H exm2254392 20 62328405 [T/C] NR_037882,NM_003823 RTEL1-TNFRSF6B,TNFRSF6B EXON Silent,Synonymous_C95C exm1560386 20 62328428 [A/G] NR_037882,NM_003823 RTEL1-TNFRSF6B,TNFRSF6B EXON Silent,Missense_R103Q exm1560414 20 62329672 [T/C] NR_037882,NM_003823 RTEL1-TNFRSF6B,TNFRSF6B EXON Silent,Missense_A220V exm1560469 20 62333231 [A/G] NM_001267546,NM_001267544,NM_003224,NM_001267545,NM_001267549,NM_001267548,NR_051955,NR_051958,NM_001267547,NR_051956,NR_051957,NR_051954,NM_001134758 ARFRP1,ARFRP1,ARFRP1,ARFRP1,ARFRP1,ARFRP1,ARFRP1,ARFRP1,ARFRP1,ARFRP1,ARFRP1,ARFRP1,ARFRP1 EXON Missense_A76V,Synonymous_G122G,Missense_A123V,Silent,Missense_A123V,Missense_A123V,Silent,Silent,Missense_A123V,Silent,Silent,Silent,Missense_A123V exm1560473 20 62333493 [A/G] NM_001267546,NM_001267544,NM_003224,NM_001267545,NM_001267549,NM_001267548,NR_051955,NR_051958,NM_001267547,NR_051956,NR_051957,NR_051954,NM_001134758 ARFRP1,ARFRP1,ARFRP1,ARFRP1,ARFRP1,ARFRP1,ARFRP1,ARFRP1,ARFRP1,ARFRP1,ARFRP1,ARFRP1,ARFRP1 EXON Missense_A67V,Missense_A114V,Missense_A114V,Missense_A114V,Missense_A114V,Missense_A114V,Silent,Silent,Missense_A114V,Silent,Silent,Silent,Missense_A114V exm1560475 20 62333521 [T/C] NM_001267546,NM_001267544,NM_003224,NM_001267545,NM_001267549,NM_001267548,NR_051955,NR_051958,NM_001267547,NR_051956,NR_051957,NR_051954,NM_001134758 ARFRP1,ARFRP1,ARFRP1,ARFRP1,ARFRP1,ARFRP1,ARFRP1,ARFRP1,ARFRP1,ARFRP1,ARFRP1,ARFRP1,ARFRP1 EXON Missense_E58K,Missense_E105K,Missense_E105K,Missense_E105K,Missense_E105K,Missense_E105K,Silent,Silent,Missense_E105K,Silent,Silent,Silent,Missense_E105K exm2234775 20 62338048 [T/C] NM_001267546,NM_001267544,NM_003224,NM_001267545,NM_001267549,NM_001267548,NR_051955,NR_051958,NM_001267547,NR_051956,NR_051957,NR_051954,NM_001134758 ARFRP1,ARFRP1,ARFRP1,ARFRP1,ARFRP1,ARFRP1,ARFRP1,ARFRP1,ARFRP1,ARFRP1,ARFRP1,ARFRP1,ARFRP1 EXON Silent,Missense_K46E,Missense_K46E,Missense_K46E,Missense_K46E,Missense_K46E,Silent,Silent,Missense_K46E,Silent,Silent,Silent,Missense_K46E exm1560504 20 62339942 [A/G] NM_001083113,NM_181485,NM_032527,NM_001195653,NM_001195654 ZGPAT,ZGPAT,ZGPAT,ZGPAT,ZGPAT EXON Missense_E4K,Missense_E4K,Missense_E4K,Missense_E4K,Missense_E4K exm1560512 20 62340115 [G/C] NM_001083113,NM_181485,NM_032527,NM_001195653,NM_001195654 ZGPAT,ZGPAT,ZGPAT,ZGPAT,ZGPAT EXON Missense_S61R,Missense_S61R,Missense_S61R,Missense_S61R,Missense_S61R exm1560531 20 62340474 [T/C] NM_001083113,NM_181485,NM_032527,NM_001195653,NM_001195654 ZGPAT,ZGPAT,ZGPAT,ZGPAT,ZGPAT EXON Missense_P181L,Missense_P181L,Missense_P181L,Missense_P181L,Missense_P181L exm-rs2315008 20 62343956 [T/G] NM_001083113,NM_181485,NM_032527,NM_001195653,NM_001195654 ZGPAT,ZGPAT,ZGPAT,ZGPAT,ZGPAT Silent,Silent,Silent,Silent,Silent exm-rs4809330 20 62349586 [A/G] NM_001083113,NM_181485,NM_032527,NM_001195653,NM_001195654 ZGPAT,ZGPAT,ZGPAT,ZGPAT,ZGPAT Silent,Silent,Silent,Silent,Silent exm1972683 20 62364653 [T/G] NM_001083113,NM_181485,NM_032527,NM_001195653,NM_001195654 ZGPAT,ZGPAT,ZGPAT,ZGPAT,ZGPAT EXON Missense_A223S,Missense_A223S,Missense_A223S,Missense_A223S,Missense_A223S exm1560538 20 62364696 [A/G] NM_001083113,NM_181485,NM_032527,NM_001195653,NM_001195654 ZGPAT,ZGPAT,ZGPAT,ZGPAT,ZGPAT EXON Missense_R237H,Missense_R237H,Missense_R237H,Missense_R237H,Missense_R237H exm1560548 20 62365034 [C/G] NM_001083113,NM_181485,NM_032527,NM_001195653,NM_001195654 ZGPAT,ZGPAT,ZGPAT,ZGPAT,ZGPAT EXON Missense_E272Q,Missense_E272Q,Missense_E272Q,Missense_E272Q,Missense_E272Q exm1560552 20 62365063 [T/C] NM_001083113,NM_181485,NM_032527,NM_001195653,NM_001195654 ZGPAT,ZGPAT,ZGPAT,ZGPAT,ZGPAT EXON Synonymous_D281D,Synonymous_D281D,Synonymous_D281D,Synonymous_D281D,Synonymous_D281D exm1560553 20 62365080 [T/G] NM_001083113,NM_181485,NM_032527,NM_001195653,NM_001195654 ZGPAT,ZGPAT,ZGPAT,ZGPAT,ZGPAT EXON Missense_S287I,Missense_S287I,Missense_S287I,Missense_S287I,Silent exm1560560 20 62366014 [A/G] NM_001083113,NM_181485,NM_032527,NM_001195653,NM_001195654 ZGPAT,ZGPAT,ZGPAT,ZGPAT,ZGPAT EXON Silent,Silent,Missense_V297M,Silent,Silent exm1560561 20 62366039 [T/C] NM_001083113,NM_181485,NM_032527,NM_001195653,NM_001195654 ZGPAT,ZGPAT,ZGPAT,ZGPAT,ZGPAT EXON Silent,Silent,Missense_L305P,Silent,Silent exm1560576 20 62366756 [A/G] NM_001083113,NM_181485,NM_032527,NM_001195653,NM_001195654 ZGPAT,ZGPAT,ZGPAT,ZGPAT,ZGPAT EXON Missense_G413R,Missense_G413R,Missense_G433R,Missense_G413R,Missense_G404R exm1560587 20 62366891 [A/G] NM_001083113,NM_181485,NM_032527,NM_001195653,NM_001195654 ZGPAT,ZGPAT,ZGPAT,ZGPAT,ZGPAT EXON Missense_E458K,Missense_E458K,Missense_E478K,Missense_E458K,Missense_E449K exm1560589 20 62366916 [A/G] NM_001083113,NM_181485,NM_032527,NM_001195653,NM_001195654 ZGPAT,ZGPAT,ZGPAT,ZGPAT,ZGPAT EXON Missense_R466Q,Missense_R466Q,Missense_R486Q,Missense_R466Q,Missense_R457Q exm1560591 20 62367134 [G/C] NM_001083113,NM_181485,NM_032527,NM_001195653,NM_001195654 ZGPAT,ZGPAT,ZGPAT,ZGPAT,ZGPAT EXON Missense_H467D,Missense_H467D,Missense_H487D,Missense_H467D,Missense_H458D exm1560603 20 62367256 [T/G] NM_001083113,NM_181485,NM_032527,NM_001195653,NM_001195654 ZGPAT,ZGPAT,ZGPAT,ZGPAT,ZGPAT EXON Missense_K507N,Missense_K507N,Missense_K527N,Missense_K507N,Missense_K498N exm1560620 20 62369392 [T/C] NM_017806 LIME1 EXON Missense_R83W exm1560630 20 62369997 [T/C] NM_017806 LIME1 EXON Missense_P211L exm2254393 20 62372798 [T/C] NM_020062 SLC2A4RG EXON Synonymous_L119L exm1560654 20 62372824 [A/T] NM_020062 SLC2A4RG EXON Missense_F128Y exm1972724 20 62373550 [A/C] NM_020062 SLC2A4RG EXON Missense_A216E exm1560666 20 62373701 [T/G] NM_020062 SLC2A4RG EXON Missense_E231D exm1560667 20 62373707 [T/G] NM_020062 SLC2A4RG EXON Missense_E233D exm1560671 20 62373796 [T/G] NM_020062 SLC2A4RG EXON Missense_V263G exm1560690 20 62374112 [G/C] NM_020062 SLC2A4RG EXON Missense_A341P exm1560691 20 62374113 [T/C] NM_020062 SLC2A4RG EXON Missense_A341V exm1972737 20 62378335 [T/C] NM_025224 ZBTB46 EXON Missense_R573Q exm2264707 20 62380516 [A/C] NM_025224 ZBTB46 Silent exm1560739 20 62384172 [T/C] NM_025224 ZBTB46 EXON Missense_Y422C exm1560770 20 62421480 [C/G] NM_025224 ZBTB46 EXON Missense_V211L exm1560771 20 62421485 [T/C] NM_025224 ZBTB46 EXON Missense_D209G exm1560773 20 62421514 [G/C] NM_025224 ZBTB46 EXON Missense_E199D exm1560774 20 62421537 [T/C] NM_025224 ZBTB46 EXON Missense_G192R exm1560775 20 62421540 [T/C] NM_025224 ZBTB46 EXON Missense_D191N exm2254396 20 62421673 [A/G] NM_025224 ZBTB46 EXON Synonymous_I146I exm1560815 20 62422080 [T/C] NM_025224 ZBTB46 EXON Missense_T11A exm1560825 20 62492912 [A/G] NM_080622 ABHD16B EXON Missense_V7M exm1560827 20 62492922 [T/A] NM_080622 ABHD16B EXON Missense_L10Q exm1560849 20 62493371 [T/C] NM_080622 ABHD16B EXON Missense_R160C exm1560851 20 62493384 [T/C] NM_080622 ABHD16B EXON Missense_P164L exm1560853 20 62493408 [A/G] NM_080622 ABHD16B EXON Missense_R172H exm1560859 20 62493530 [A/G] NM_080622 ABHD16B EXON Missense_V213M exm1560861 20 62493575 [A/G] NM_080622 ABHD16B EXON Missense_E228K exm1560872 20 62493710 [A/G] NM_080622 ABHD16B EXON Missense_D273N exm1560892 20 62494199 [T/C] NM_080622 ABHD16B EXON Missense_R436W exm1560893 20 62494224 [T/G] NM_080622 ABHD16B EXON Missense_R444L exm1972768 20 62494241 [A/G] NM_080622 ABHD16B EXON Missense_V450M exm1560906 20 62500730 [A/G] NM_199360,NM_199359,NM_199362,NM_001243895,NM_001243891,NM_199363,NM_001243892,NR_045090,NM_003288,NM_001243894,NM_199361 TPD52L2,TPD52L2,TPD52L2,TPD52L2,TPD52L2,TPD52L2,TPD52L2,TPD52L2,TPD52L2,TPD52L2,TPD52L2 EXON Missense_R34Q,Missense_R34Q,Missense_R34Q,Missense_R34Q,Silent,Missense_R34Q,Missense_R11Q,Silent,Missense_R34Q,Missense_R34Q,Missense_R34Q exm1560911 20 62505153 [A/G] NM_199360,NM_199359,NM_199362,NM_001243895,NM_001243891,NM_199363,NM_001243892,NR_045090,NM_003288,NM_001243894,NM_199361 TPD52L2,TPD52L2,TPD52L2,TPD52L2,TPD52L2,TPD52L2,TPD52L2,TPD52L2,TPD52L2,TPD52L2,TPD52L2 EXON Missense_V100M,Missense_V100M,Missense_V100M,Missense_V100M,Missense_V75M,Missense_V100M,Missense_V77M,Silent,Missense_V100M,Missense_V100M,Missense_V100M exm1560926 20 62520563 [T/C] NM_199360,NM_199359,NM_199362,NM_001243895,NM_001243891,NM_199363,NM_001243892,NR_045090,NM_003288,NM_001243894,NM_199361 TPD52L2,TPD52L2,TPD52L2,TPD52L2,TPD52L2,TPD52L2,TPD52L2,TPD52L2,TPD52L2,TPD52L2,TPD52L2 EXON Missense_S189L,Missense_S146L,Missense_S180L,Silent,Missense_S141L,Missense_S160L,Missense_S123L,Silent,Missense_S166L,Missense_S112L,Missense_S169L exm2254397 20 62520564 [A/G] NM_199360,NM_199359,NM_199362,NM_001243895,NM_001243891,NM_199363,NM_001243892,NR_045090,NM_003288,NM_001243894,NM_199361 TPD52L2,TPD52L2,TPD52L2,TPD52L2,TPD52L2,TPD52L2,TPD52L2,TPD52L2,TPD52L2,TPD52L2,TPD52L2 EXON Synonymous_S189S,Synonymous_S146S,Synonymous_S180S,Silent,Synonymous_S141S,Synonymous_S160S,Synonymous_S123S,Silent,Synonymous_S166S,Synonymous_S112S,Synonymous_S169S exm1560978 20 62560679 [A/G] NM_025219 DNAJC5 EXON Missense_K41R exm1561009 20 62571356 [G/C] NM_001193379,NM_017859 UCKL1,UCKL1 EXON Missense_D525E,Missense_D540E exm2254398 20 62576034 [T/C] NM_001193379,NM_017859 UCKL1,UCKL1 EXON Synonymous_R221R,Synonymous_R236R exm1561080 20 62577298 [T/C] NM_001193379,NM_017859 UCKL1,UCKL1 EXON Missense_A133T,Missense_A148T exm2254399 20 62577553 [T/C] NM_001193379,NM_017859 UCKL1,UCKL1 EXON Synonymous_V109V,Synonymous_V124V exm1561093 20 62577807 [A/G] NM_001193379,NM_017859 UCKL1,UCKL1 EXON Synonymous_I86I,Synonymous_I101I exm1561099 20 62577856 [A/G] NM_001193379,NM_017859 UCKL1,UCKL1 EXON Missense_P70L,Missense_P85L exm2254400 20 62577864 [A/G] NM_001193379,NM_017859 UCKL1,UCKL1 EXON Synonymous_A67A,Synonymous_A82A exm1561115 20 62587644 [T/C] NM_017859,NR_027287 UCKL1,UCKL1-AS1 EXON Missense_A28T,Silent exm1561116 20 62587650 [A/G] NM_017859,NR_027287 UCKL1,UCKL1-AS1 EXON Missense_R26W,Silent exm1561119 20 62587682 [G/C] NM_017859,NR_027287 UCKL1,UCKL1-AS1 EXON Missense_T15R,Silent exm1561127 20 62591279 [T/C] NM_020713 ZNF512B EXON Missense_G881S exm1561138 20 62591418 [G/C] NM_020713 ZNF512B EXON Missense_K834N exm1561143 20 62592736 [A/G] NM_020713 ZNF512B EXON Missense_R785C exm1561167 20 62594448 [A/G] NM_020713 ZNF512B EXON Synonymous_P656P exm1561169 20 62594455 [A/G] NM_020713 ZNF512B EXON Missense_T654M exm1561173 20 62594570 [A/G] NM_020713 ZNF512B EXON Missense_R616W exm1561180 20 62594762 [T/C] NM_020713 ZNF512B EXON Missense_E577G exm1561187 20 62595032 [T/C] NM_020713 ZNF512B EXON Missense_R546Q exm1561192 20 62595207 [T/C] NM_020713 ZNF512B EXON Missense_T514A exm1561201 20 62595547 [T/C] NM_020713 ZNF512B EXON Missense_A453T exm1561210 20 62595882 [T/C] NM_020713 ZNF512B EXON Missense_A408T exm1561216 20 62595990 [T/C] NM_020713 ZNF512B EXON Missense_M372V exm1561233 20 62597666 [T/C] NM_020713 ZNF512B EXON Missense_V288M exm1561239 20 62597720 [T/C] NM_020713 ZNF512B EXON Missense_V270I exm1561241 20 62597770 [A/G] NM_020713 ZNF512B EXON Missense_P253L exm1561245 20 62597844 [G/C] NM_020713 ZNF512B EXON Missense_I228M exm1561252 20 62597996 [T/C] NM_020713 ZNF512B EXON Missense_R178G exm1561269 20 62598841 [T/C] NM_020713 ZNF512B EXON Missense_G53S exm1561277 20 62599299 [A/G] NM_020713 ZNF512B EXON Missense_T2M exm1561286 20 62607130 [A/C] NM_080621 SAMD10 EXON Missense_Q167H exm1561289 20 62607179 [A/G] NM_080621 SAMD10 EXON Missense_A151V exm1561291 20 62608325 [A/G] NM_080621 SAMD10 EXON Synonymous_T148T exm1972901 20 62608491 [T/C] NM_080621 SAMD10 EXON Missense_R93Q exm1561300 20 62608492 [A/G] NM_080621 SAMD10 EXON Missense_R93W exm1561313 20 62608720 [T/G] NM_080621 SAMD10 EXON Missense_H44P exm2234788 20 62612631 [T/G] NM_012469 PRPF6 EXON Missense_M11I exm1561367 20 62632557 [T/C] NM_012469 PRPF6 EXON Missense_T384M exm2254401 20 62641605 [A/G] NM_012469 PRPF6 EXON Synonymous_L413L exm1561409 20 62658384 [T/C] NM_012469 PRPF6 EXON Missense_A693V exm1561436 20 62663362 [T/G] NM_012469 PRPF6 EXON Missense_F880V exm1561437 20 62663363 [T/C] NM_012469 PRPF6 EXON Missense_F880S exm1561443 20 62664263 [A/G] NM_012469 PRPF6 EXON Missense_V915M exm1561445 20 62664299 [A/G] NM_012469 PRPF6 EXON Missense_G927R exm2268318 20 62695931 [A/G] NM_198723,NM_003195 TCEA2,TCEA2 Silent,Silent exm1561546 20 62701627 [A/G] NM_198723,NM_003195 TCEA2,TCEA2 EXON Missense_V151I,Missense_V178I exm1561600 20 62705880 [T/C] NM_001039467,NM_005873 RGS19,RGS19 EXON Missense_R56Q,Missense_R56Q exm1561608 20 62707975 [G/C] NM_001039467,NM_005873 RGS19,RGS19 EXON Missense_R19G,Missense_R19G exm1561640 20 62724093 [T/C] NM_182647,NM_000913,NM_001200019 OPRL1,OPRL1,OPRL1 EXON Missense_A7V,Missense_A7V,Missense_A7V exm1561641 20 62724104 [A/G] NM_182647,NM_000913,NM_001200019 OPRL1,OPRL1,OPRL1 EXON Missense_E11K,Missense_E11K,Missense_E11K exm1561652 20 62724292 [A/G] NM_182647,NM_000913,NM_001200019 OPRL1,OPRL1,OPRL1 EXON Missense_M73I,Missense_M73I,Missense_M73I exm1561680 20 62729727 [A/G] NM_182647,NM_000913,NM_001200019 OPRL1,OPRL1,OPRL1 EXON Missense_V230I,Missense_V230I,Missense_V230I exm1561682 20 62729767 [A/G] NM_182647,NM_000913,NM_001200019 OPRL1,OPRL1,OPRL1 EXON Missense_R243H,Missense_R243H,Missense_R243H exm1561685 20 62729806 [A/G] NM_182647,NM_000913,NM_001200019 OPRL1,OPRL1,OPRL1 EXON Missense_R256Q,Missense_R256Q,Missense_R256Q exm1561686 20 62729814 [T/C] NM_182647,NM_000913,NM_001200019 OPRL1,OPRL1,OPRL1 EXON Missense_R259W,Missense_R259W,Missense_R259W exm2234792 20 62729943 [T/C] NM_182647,NM_000913,NM_001200019 OPRL1,OPRL1,OPRL1 EXON Missense_R302C,Missense_R302C,Missense_R302C exm1561696 20 62729967 [A/G] NM_182647,NM_000913,NM_001200019 OPRL1,OPRL1,OPRL1 EXON Missense_V310I,Missense_V310I,Missense_V310I exm1561700 20 62730060 [T/C] NM_182647,NM_000913,NM_001200019 OPRL1,OPRL1,OPRL1 EXON Missense_R341W,Missense_R341W,Missense_R341W exm1561709 20 62730139 [T/C] NM_182647,NM_000913,NM_001200019 OPRL1,OPRL1,OPRL1 EXON Missense_P367L,Missense_P367L,Missense_P367L exm1561711 20 62730147 [A/G] NM_182647,NM_000913,NM_001200019 OPRL1,OPRL1,OPRL1 EXON Missense_A370T,Missense_A370T,Missense_A370T exm1561719 20 62737214 [T/C] NM_005286 NPBWR2 EXON Missense_R324Q exm1561720 20 62737215 [A/G] NM_005286 NPBWR2 EXON Missense_R324W exm1561721 20 62737236 [T/C] NM_005286 NPBWR2 EXON Missense_A317T exm1561724 20 62737284 [T/C] NM_005286 NPBWR2 EXON Missense_I301V exm1561730 20 62737383 [T/C] NM_005286 NPBWR2 EXON Missense_V268M exm1561738 20 62737467 [A/G] NM_005286 NPBWR2 EXON Missense_R240W exm1973060 20 62737512 [T/C] NM_005286 NPBWR2 EXON Missense_V225M exm1561744 20 62737548 [A/G] NM_005286 NPBWR2 EXON Missense_R213C exm1561746 20 62737568 [T/C] NM_005286 NPBWR2 EXON Missense_Q206R exm1561757 20 62737727 [T/C] NM_005286 NPBWR2 EXON Missense_R153H exm1561758 20 62737728 [A/G] NM_005286 NPBWR2 EXON Missense_R153C exm2276730 20 62737768 [A/G] NM_005286 NPBWR2 EXON Synonymous_S139S exm1561764 20 62737877 [A/G] NM_005286 NPBWR2 EXON Missense_A103V exm1561773 20 62737952 [A/G] NM_005286 NPBWR2 EXON Missense_T78M exm1561774 20 62737967 [A/G] NM_005286 NPBWR2 EXON Missense_A73V exm1561775 20 62737970 [G/C] NM_005286 NPBWR2 EXON Missense_R72T exm1561780 20 62738060 [A/G] NM_005286 NPBWR2 EXON Missense_P42L exm1561786 20 62738156 [A/T] NM_005286 NPBWR2 EXON Missense_L10H exm1561804 20 62836912 [C/G] NM_004535 MYT1 EXON Missense_Q52H exm1561821 20 62838958 [A/G] NM_004535 MYT1 EXON Missense_V137I exm1561822 20 62838961 [A/G] NM_004535 MYT1 EXON Missense_K138E exm1973085 20 62839017 [A/C] NM_004535 MYT1 EXON Missense_S156R exm1561836 20 62839237 [A/G] NM_004535 MYT1 EXON Missense_E230K exm1561878 20 62839589 [A/G] NM_004535 MYT1 EXON Missense_R347H exm1561882 20 62839620 [A/C] NM_004535 MYT1 EXON Missense_H357Q exm1561886 20 62839672 [T/C] NM_004535 MYT1 EXON Missense_R375W exm1561891 20 62839820 [A/G] NM_004535 MYT1 EXON Missense_R424Q exm2260966 20 62841017 [A/C] NM_004535 MYT1 Silent exm1561905 20 62844979 [C/G] NM_004535 MYT1 EXON Missense_S537C exm1561916 20 62850346 [A/G] NM_004535 MYT1 EXON Missense_M643I exm1561951 20 62859241 [T/C] NM_004535 MYT1 EXON Synonymous_S864S exm1561976 20 62867998 [T/C] NM_004535 MYT1 EXON Synonymous_D996D exm2254402 20 62871696 [T/C] NM_004535 MYT1 EXON Synonymous_F1087F exm1561997 20 62871773 [A/G] NM_004535 MYT1 EXON Missense_K1113R exm1973160 20 62899294 [A/G] NM_001104925,NM_018257 PCMTD2,PCMTD2 EXON Silent,Missense_A213T exm1562030 20 62904703 [A/G] NM_001104925,NM_018257 PCMTD2,PCMTD2 EXON Missense_R252Q,Missense_R279Q exm1562031 20 62904715 [A/G] NM_001104925,NM_018257 PCMTD2,PCMTD2 EXON Missense_R256H,Missense_R283H exm1562032 20 62904717 [T/C] NM_001104925,NM_018257 PCMTD2,PCMTD2 EXON Missense_R257C,Missense_R284C exm1562034 20 62904724 [A/G] NM_001104925,NM_018257 PCMTD2,PCMTD2 EXON Missense_R259Q,Missense_R286Q exm1562040 20 62904863 [A/C] NM_001104925,NM_018257 PCMTD2,PCMTD2 EXON Missense_D305E,Missense_D332E exm1562102 21 10906922 [T/C] NM_199259,NM_199261,NM_199260 TPTE,TPTE,TPTE EXON Missense_V529I,Missense_V547I,Missense_V509I exm1562104 21 10906936 [A/G] NM_199259,NM_199261,NM_199260 TPTE,TPTE,TPTE EXON Missense_T524I,Missense_T542I,Missense_T504I exm1562115 21 10907041 [A/C] NM_199259,NM_199261,NM_199260 TPTE,TPTE,TPTE Silent,Silent,Silent exm2234816 21 10908848 [T/G] NM_199259,NM_199261,NM_199260 TPTE,TPTE,TPTE EXON Missense_H481Q,Missense_H499Q,Missense_H461Q exm2234817 21 10908870 [T/C] NM_199259,NM_199261,NM_199260 TPTE,TPTE,TPTE EXON Missense_C474Y,Missense_C492Y,Missense_C454Y exm2234818 21 10908881 [T/G] NM_199259,NM_199261,NM_199260 TPTE,TPTE,TPTE EXON Nonsense_Y470X,Nonsense_Y488X,Nonsense_Y450X exm1562122 21 10908882 [T/C] NM_199259,NM_199261,NM_199260 TPTE,TPTE,TPTE EXON Missense_Y470C,Missense_Y488C,Missense_Y450C exm1562123 21 10908883 [A/G] NM_199259,NM_199261,NM_199260 TPTE,TPTE,TPTE EXON Missense_Y470H,Missense_Y488H,Missense_Y450H exm1562127 21 10910307 [T/C] NM_199259,NM_199261,NM_199260 TPTE,TPTE,TPTE EXON Synonymous_S465S,Synonymous_S483S,Synonymous_S445S exm1562153 21 10916412 [A/G] NM_199259,NM_199261,NM_199260 TPTE,TPTE,TPTE EXON Missense_R394W,Missense_R412W,Missense_R374W exm1562156 21 10916435 [T/G] NM_199259,NM_199261,NM_199260 TPTE,TPTE,TPTE EXON Missense_Y386S,Missense_Y404S,Missense_Y366S exm1562172 21 10921939 [T/C] NM_199259,NM_199261,NM_199260 TPTE,TPTE,TPTE EXON Missense_A344T,Missense_A362T,Missense_A324T exm1562176 21 10921968 [A/C] NM_199259,NM_199261,NM_199260 TPTE,TPTE,TPTE EXON Missense_F334C,Missense_F352C,Missense_F314C exm2234823 21 10942992 [T/G] NM_199259,NM_199261,NM_199260 TPTE,TPTE,TPTE EXON Missense_L181I,Missense_L199I,Missense_L161I exm1562295 21 10970025 [A/C] NM_199259,NM_199261,NM_199260 TPTE,TPTE,TPTE EXON Missense_A35S,Missense_A35S,Missense_A35S exm1562308 21 10971325 [A/G] NM_199259,NM_199261,NM_199260 TPTE,TPTE,TPTE EXON Missense_A11V,Missense_A11V,Missense_A11V exm1562310 21 10971337 [A/G] NM_199259,NM_199261,NM_199260 TPTE,TPTE,TPTE EXON Missense_P7L,Missense_P7L,Missense_P7L exm1562347 21 11098723 [T/C] NM_182484,NM_181704,NM_182482,NM_182481,NM_001187 BAGE5,BAGE4,BAGE2,BAGE3,BAGE EXON Silent,Silent,Silent,Silent,Silent exm2268380 21 15384814 [A/G] exm1562439 21 15481365 [T/G] NM_198996 LIPI EXON Missense_D465E exm1562442 21 15516948 [T/C] NM_198996 LIPI EXON Missense_E452K exm1562443 21 15516976 [A/T] NM_198996 LIPI EXON Missense_R442S exm1562451 21 15524921 [T/C] NM_198996 LIPI EXON Missense_G385E exm1562459 21 15537589 [A/G] NM_198996 LIPI EXON Missense_C307R exm1562469 21 15538701 [G/C] NM_198996 LIPI EXON Missense_P260A exm1562477 21 15558302 [T/C] NM_198996 LIPI EXON Missense_G195D exm1562484 21 15558363 [G/C] NM_198996 LIPI EXON Missense_H175D exm1562485 21 15558368 [T/C] NM_198996 LIPI EXON Missense_N173S exm1562489 21 15561435 [T/C] NM_198996 LIPI EXON Missense_T139A exm1562491 21 15561470 [A/G] NM_198996 LIPI EXON Missense_M127T exm1562499 21 15561623 [T/C] NM_198996 LIPI EXON Missense_C76Y exm1562504 21 15579196 [C/G] NM_198996 LIPI EXON Missense_H17D exm1562512 21 15591968 [A/G] NM_144770 RBM11 EXON Missense_E61K exm1562514 21 15592030 [A/C] NM_144770 RBM11 EXON Missense_N81K exm1562519 21 15593472 [T/C] NM_144770 RBM11 EXON Missense_I105T exm1562520 21 15593485 [A/C] NM_144770 RBM11 EXON Missense_N109K exm1562523 21 15596772 [T/G] NM_144770 RBM11 EXON Missense_L116V exm1976376 21 15596815 [A/G] NM_144770 RBM11 EXON Missense_N130S exm1562527 21 15599283 [A/C] NM_144770 RBM11 EXON Missense_S172Y exm1562529 21 15599354 [A/G] NM_144770 RBM11 EXON Missense_D196N exm1562531 21 15599466 [A/G] NM_144770 RBM11 EXON Missense_H233R exm1562538 21 15599567 [A/G] NM_144770 RBM11 EXON Missense_E267K exm1562539 21 15599585 [T/C] NM_144770 RBM11 EXON Nonsense_R273X exm1562540 21 15599586 [A/G] NM_144770 RBM11 EXON Missense_R273Q exm2268357 21 15653065 [A/G] NR_003088,NR_003087 ABCC13,ABCC13 Silent,Silent exm1562550 21 15746225 [A/G] NM_006948 HSPA13 EXON Missense_L377F exm1562553 21 15746311 [A/C] NM_006948 HSPA13 EXON Missense_G348V exm1976387 21 15746350 [A/G] NM_006948 HSPA13 EXON Missense_S335L exm1562558 21 15746419 [A/G] NM_006948 HSPA13 EXON Missense_T312M exm1562559 21 15746506 [T/C] NM_006948 HSPA13 EXON Missense_E283G exm1562560 21 15746522 [T/C] NM_006948 HSPA13 EXON Missense_V278M exm1562574 21 15753612 [T/C] NM_006948 HSPA13 EXON Missense_Q93R exm1562575 21 15753637 [T/C] NM_006948 HSPA13 EXON Missense_V85I exm1562576 21 15753639 [T/C] NM_006948 HSPA13 EXON Missense_S84N exm1562581 21 15753855 [A/C] NM_006948 HSPA13 EXON Missense_V12G exm-rs1006899 21 15845052 [A/G] exm1562592 21 15858321 [T/C] NM_001256370,NM_022136 SAMSN1,SAMSN1 EXON Missense_G413E,Missense_G345E exm1562594 21 15858411 [A/G] NM_001256370,NM_022136 SAMSN1,SAMSN1 EXON Missense_P383L,Missense_P315L exm1562600 21 15873026 [T/C] NM_001256370,NM_022136 SAMSN1,SAMSN1 EXON Missense_T266A,Missense_T198A exm1562607 21 15882746 [T/C] NM_001256370,NM_022136 SAMSN1,SAMSN1 EXON Missense_R217Q,Missense_R149Q exm1562608 21 15882747 [A/G] NM_001256370,NM_022136 SAMSN1,SAMSN1 EXON Missense_R217W,Missense_R149W exm1562618 21 15889229 [T/G] NM_001256370,NM_022136 SAMSN1,SAMSN1 EXON Missense_A156D,Missense_A88D exm1976425 21 15893508 [T/C] NM_001256370,NM_022136 SAMSN1,SAMSN1 EXON Missense_R99Q,Missense_R31Q exm2264723 21 16209949 [A/C] exm-rs6517050 21 16211191 [T/G] exm1562654 21 16337102 [T/C] NM_003489 NRIP1 EXON Missense_S1138G exm1562656 21 16337111 [A/G] NM_003489 NRIP1 EXON Missense_R1135C exm1976456 21 16337201 [T/C] NM_003489 NRIP1 EXON Missense_K1105E exm1562660 21 16337211 [G/C] NM_003489 NRIP1 EXON Missense_Q1101H exm1562663 21 16337279 [A/C] NM_003489 NRIP1 EXON Missense_V1079F exm1562681 21 16337764 [A/G] NM_003489 NRIP1 EXON Missense_S917L exm1562686 21 16337963 [A/T] NM_003489 NRIP1 EXON Missense_N851Y exm1562689 21 16338106 [A/G] NM_003489 NRIP1 EXON Missense_S803L exm1562692 21 16338139 [A/G] NM_003489 NRIP1 EXON Missense_A792V exm1562693 21 16338140 [T/C] NM_003489 NRIP1 EXON Missense_A792T exm1562696 21 16338236 [T/A] NM_003489 NRIP1 EXON Missense_C760S exm1562698 21 16338259 [A/G] NM_003489 NRIP1 EXON Missense_M752T exm1562701 21 16338313 [T/C] NM_003489 NRIP1 EXON Missense_R734K exm1562702 21 16338357 [G/C] NM_003489 NRIP1 EXON Missense_N719K exm1562703 21 16338368 [A/G] NM_003489 NRIP1 EXON Missense_L716F exm1562704 21 16338383 [T/C] NM_003489 NRIP1 EXON Missense_T711A exm1562709 21 16338443 [A/G] NM_003489 NRIP1 EXON Missense_P691S exm1562725 21 16338814 [T/C] NM_003489 NRIP1 EXON Missense_N567S exm1562726 21 16338944 [T/C] NM_003489 NRIP1 EXON Missense_N524D exm1562727 21 16338958 [A/G] NM_003489 NRIP1 EXON Missense_P519L exm1562729 21 16339045 [A/G] NM_003489 NRIP1 EXON Missense_S490F exm1562732 21 16339108 [T/C] NM_003489 NRIP1 EXON Missense_N469S exm1562737 21 16339172 [C/G] NM_003489 NRIP1 EXON Missense_R448G exm1562738 21 16339193 [T/C] NM_003489 NRIP1 EXON Missense_I441V exm1562746 21 16339348 [A/G] NM_003489 NRIP1 EXON Missense_I389T exm1562751 21 16339536 [T/A] NM_003489 NRIP1 EXON Missense_N326K exm1562752 21 16339570 [T/A] NM_003489 NRIP1 EXON Missense_Y315F exm1562760 21 16339780 [G/C] NM_003489 NRIP1 EXON Missense_S245T exm1562762 21 16339797 [A/T] NM_003489 NRIP1 EXON Missense_R239S exm1562765 21 16339852 [T/C] NM_003489 NRIP1 EXON Missense_H221R exm1562767 21 16339898 [T/C] NM_003489 NRIP1 EXON Missense_V206M exm1562774 21 16340198 [T/C] NM_003489 NRIP1 EXON Missense_M106V exm-rs2229741 21 16340289 [T/C] NM_003489 NRIP1 EXON Synonymous_G75G exm1562782 21 16340405 [T/C] NM_003489 NRIP1 EXON Missense_V37I exm1562783 21 16340408 [G/C] NM_003489 NRIP1 EXON Missense_A36P exm2254484 21 16438793 [A/G] exm2272992 21 16537728 [T/G] exm-rs1736135 21 16805220 [T/C] exm-rs1736020 21 16812552 [A/C] exm-rs1297265 21 16817051 [A/G] exm-rs2823357 21 16914905 [A/G] exm2272956 21 17001054 [T/C] exm-rs2823455 21 17069166 [T/C] exm1562801 21 17135220 [C/G] NM_013396 USP25 EXON Missense_T19R exm1562814 21 17150333 [A/C] NM_013396 USP25 EXON Missense_Q127K exm1562825 21 17177447 [A/G] NM_013396 USP25 EXON Missense_R217Q exm1562836 21 17197311 [T/C] NM_013396 USP25 EXON Missense_T412I exm1562842 21 17198629 [A/G] NM_013396 USP25 EXON Missense_D471N exm1976580 21 17199346 [T/C] NM_013396 USP25 EXON Missense_P506L exm1562858 21 17203741 [A/G] NM_013396 USP25 EXON Missense_V596I exm1562864 21 17203808 [A/G] NM_013396 USP25 EXON Missense_S618N exm1976593 21 17205679 [A/C] NM_013396 USP25 EXON Missense_K669T exm1562872 21 17214734 [A/C] NM_013396 USP25 EXON Missense_P738T exm1562881 21 17236674 [G/C] NM_013396 USP25 EXON Missense_V809L exm1562896 21 17250133 [A/G] NM_013396 USP25 EXON Missense_A940T exm1562898 21 17250244 [A/C] NM_013396 USP25 EXON Missense_K977Q exm1562902 21 17250624 [T/C] NM_013396 USP25 EXON Missense_H1000Y exm1562905 21 17250696 [A/G] NM_013396 USP25 EXON Missense_E1024K exm2272993 21 17609813 [T/C] NR_027790,NR_027791 LINC00478,LINC00478 Silent,Silent exm2272957 21 17654621 [T/C] NR_027790,NR_027791 LINC00478,LINC00478 Silent,Silent exm2272994 21 17877794 [T/C] NR_027790,NR_027791 LINC00478,LINC00478 Silent,Silent exm2268359 21 18008449 [A/G] exm-rs2823962 21 18046232 [A/G] exm2272958 21 18741831 [T/C] exm1562983 21 18937758 [A/G] NM_001207066,NM_001207063,NM_001207065,NM_001207064,NM_001338 CXADR,CXADR,CXADR,CXADR,CXADR EXON Synonymous_P282P,Missense_H195R,Missense_T75A,Missense_H143R,Synonymous_P282P exm1562991 21 18937978 [T/C] NM_001207066,NM_001207063,NM_001207065,NM_001207064,NM_001338 CXADR,CXADR,CXADR,CXADR,CXADR EXON Silent,Silent,Silent,Silent,Missense_P356S exm1563011 21 18971107 [G/C] NM_001130914,NM_006806 BTG3,BTG3 EXON Missense_S160T,Missense_S116T exm1563024 21 18981367 [C/G] NM_001130914,NM_006806 BTG3,BTG3 EXON Missense_E32D,Missense_E32D exm1563026 21 18981435 [A/C] NM_001130914,NM_006806 BTG3,BTG3 EXON Missense_F10V,Missense_F10V exm2261006 21 19126079 [T/C] exm1563033 21 19165833 [A/G] NM_001100420,NM_001100421,NM_017447 C21orf91,C21orf91,C21orf91 EXON Missense_R265C,Silent,Missense_R264C exm1563044 21 19167581 [A/G] NM_001100420,NM_001100421,NM_017447 C21orf91,C21orf91,C21orf91 EXON Missense_S224L,Silent,Missense_S224L exm1563047 21 19168978 [G/C] NM_001100420,NM_001100421,NM_017447 C21orf91,C21orf91,C21orf91 EXON Missense_Q195H,Missense_Q195H,Missense_Q195H exm1563048 21 19169012 [T/C] NM_001100420,NM_001100421,NM_017447 C21orf91,C21orf91,C21orf91 EXON Missense_R184H,Missense_R184H,Missense_R184H exm1563049 21 19169013 [A/G] NM_001100420,NM_001100421,NM_017447 C21orf91,C21orf91,C21orf91 EXON Missense_R184C,Missense_R184C,Missense_R184C exm1563051 21 19169133 [G/C] NM_001100420,NM_001100421,NM_017447 C21orf91,C21orf91,C21orf91 EXON Missense_A144P,Missense_A144P,Missense_A144P exm1563052 21 19169155 [G/C] NM_001100420,NM_001100421,NM_017447 C21orf91,C21orf91,C21orf91 EXON Missense_D136E,Missense_D136E,Missense_D136E exm1563054 21 19169218 [G/C] NM_001100420,NM_001100421,NM_017447 C21orf91,C21orf91,C21orf91 EXON Missense_N115K,Missense_N115K,Missense_N115K exm2254497 21 19220798 [T/C] NR_024354 CHODL-AS1 Silent exm-rs157731 21 19438152 [A/G] NM_001204177,NM_001204175,NM_001204176,NM_001204178 CHODL,CHODL,CHODL,CHODL Silent,Silent,Silent,Silent exm2268381 21 19562494 [A/G] NM_001204177,NM_001204175,NM_001204176,NM_001204178 CHODL,CHODL,CHODL,CHODL Silent,Silent,Silent,Silent exm2272960 21 19568520 [T/C] NM_001204177,NM_001204175,NM_001204176,NM_001204178 CHODL,CHODL,CHODL,CHODL Silent,Silent,Silent,Silent exm1563101 21 19635116 [C/G] NM_001204177,NM_001204175,NM_001204176,NM_001204178,NM_024944,NM_001204174 CHODL,CHODL,CHODL,CHODL,CHODL,CHODL EXON Silent,Missense_P174A,Missense_P174A,Silent,Missense_P215A,Missense_P196A exm1563104 21 19635164 [T/A] NM_001204177,NM_001204175,NM_001204176,NM_001204178,NM_024944,NM_001204174 CHODL,CHODL,CHODL,CHODL,CHODL,CHODL EXON Silent,Missense_I190L,Missense_I190L,Silent,Missense_I231L,Missense_I212L exm1563116 21 19642342 [T/C] NM_002772 TMPRSS15 EXON Missense_G1002R exm1563117 21 19642347 [T/C] NM_002772 TMPRSS15 EXON Missense_R1000H exm1563120 21 19642441 [T/C] NM_002772 TMPRSS15 EXON Missense_G969R exm1563123 21 19647570 [A/T] NM_002772 TMPRSS15 EXON Missense_I950F exm1563128 21 19651307 [A/G] NM_002772 TMPRSS15 EXON Missense_A913V exm1563131 21 19651341 [G/C] NM_002772 TMPRSS15 EXON Missense_Q902E exm1563141 21 19653486 [A/G] NM_002772 TMPRSS15 EXON Missense_S847P exm1563142 21 19653489 [T/G] NM_002772 TMPRSS15 EXON Missense_K846Q exm1563144 21 19666590 [T/C] NM_002772 TMPRSS15 EXON Missense_Y828C exm1563168 21 19670118 [A/G] NM_002772 TMPRSS15 EXON Missense_P732S exm1563174 21 19685292 [C/G] NM_002772 TMPRSS15 EXON Nonsense_S712X exm1563186 21 19687498 [A/G] NM_002772 TMPRSS15 EXON Missense_L666P exm1563187 21 19687505 [T/C] NM_002772 TMPRSS15 EXON Missense_G664S exm1563189 21 19687517 [T/G] NM_002772 TMPRSS15 EXON Missense_N660H exm2234839 21 19698749 [T/C] NM_002772 TMPRSS15 EXON Missense_E641K exm1563203 21 19704422 [T/A] NM_002772 TMPRSS15 EXON Missense_S545C exm1563208 21 19704490 [A/G] NM_002772 TMPRSS15 EXON Missense_T522M exm1563210 21 19713783 [T/C] NM_002772 TMPRSS15 EXON Missense_G504E exm1563215 21 19715821 [A/C] NM_002772 TMPRSS15 Silent exm1563219 21 19715911 [A/G] NM_002772 TMPRSS15 EXON Missense_M447T exm1563222 21 19715947 [T/C] NM_002772 TMPRSS15 EXON Missense_H435R exm1563226 21 19716347 [T/C] NM_002772 TMPRSS15 EXON Missense_G401E exm1563234 21 19725265 [G/C] NM_002772 TMPRSS15 EXON Missense_P376A exm1563238 21 19725354 [T/C] NM_002772 TMPRSS15 EXON Missense_N346S exm1563243 21 19726126 [A/G] NM_002772 TMPRSS15 EXON Missense_T312I exm2234841 21 19726136 [T/C] NM_002772 TMPRSS15 EXON Missense_N309D exm1563244 21 19726138 [A/G] NM_002772 TMPRSS15 EXON Missense_S308F exm1563250 21 19732164 [A/G] NM_002772 TMPRSS15 EXON Missense_S264P exm1563252 21 19732180 [A/C] NM_002772 TMPRSS15 EXON Synonymous_R258R exm1563255 21 19737523 [C/G] NM_002772 TMPRSS15 EXON Missense_G236A exm1977055 21 19756012 [A/C] NM_002772 TMPRSS15 EXON Missense_G143V exm1563266 21 19756040 [C/G] NM_002772 TMPRSS15 EXON Missense_E134Q exm1563267 21 19756052 [A/G] NM_002772 TMPRSS15 EXON Missense_W130R exm1977059 21 19756080 [T/C] NM_002772 TMPRSS15 EXON Missense_I120M exm1563271 21 19770562 [T/C] NM_002772 TMPRSS15 EXON Missense_K77R exm1563275 21 19770598 [A/G] NM_002772 TMPRSS15 EXON Missense_T65I exm1563280 21 19775896 [T/C] NM_002772 TMPRSS15 EXON Missense_S15N exm2268360 21 20251287 [A/G] exm2272996 21 20407698 [T/C] exm-rs2825388 21 20536649 [A/T] exm2272961 21 20984026 [T/C] exm-rs2825730 21 21048041 [A/G] exm2268382 21 21373901 [A/G] exm2264724 21 21639279 [A/C] exm2272997 21 21755977 [T/C] exm2268361 21 21804099 [A/G] exm2272962 21 22539376 [T/C] NM_004540 NCAM2 Silent exm1563288 21 22652906 [A/C] NM_004540 NCAM2 EXON Missense_Q22K exm2254518 21 22656629 [T/C] NM_004540 NCAM2 EXON Synonymous_N82N exm1563299 21 22656636 [A/G] NM_004540 NCAM2 EXON Missense_I85V exm1563307 21 22658669 [A/G] NM_004540 NCAM2 EXON Missense_S140G exm-rs2826774 21 22666976 [T/C] NM_004540 NCAM2 Silent exm-rs11088859 21 22689344 [A/G] NM_004540 NCAM2 Silent exm1563321 21 22707887 [T/C] NM_004540 NCAM2 EXON Missense_T267I exm1563326 21 22710849 [A/G] NM_004540 NCAM2 EXON Missense_D347N exm1563348 21 22804429 [T/C] NM_004540 NCAM2 EXON Synonymous_D494D exm2272998 21 22861778 [T/C] NM_004540 NCAM2 Silent exm1563372 21 22881335 [T/G] NM_004540 NCAM2 EXON Missense_S747R exm1563373 21 22881350 [A/C] NM_004540 NCAM2 EXON Missense_E752D exm-rs2826891 21 22910116 [T/C] NM_004540 NCAM2 Silent exm1563383 21 22910229 [A/G] NM_004540 NCAM2 EXON Missense_K822R exm1563385 21 22910249 [G/C] NM_004540 NCAM2 EXON Missense_Q829E exm2268362 21 23083278 [A/G] exm2272963 21 23323887 [T/C] exm-rs2827312 21 23631676 [T/G] exm2261017 21 23681095 [T/C] exm2268363 21 23925128 [A/G] exm-rs7279441 21 24198815 [A/G] exm2261019 21 24238041 [T/C] exm2264725 21 24474928 [A/C] exm2254529 21 25097234 [T/C] exm-rs2828520 21 25143119 [A/G] exm2273001 21 25356564 [T/G] exm2273002 21 25638622 [T/C] exm2272965 21 25808101 [T/C] exm2254532 21 25943959 [T/C] exm-rs9977253 21 26645083 [T/C] exm2273003 21 26855088 [T/C] exm1563396 21 26958045 [T/C] NM_080794,NM_017446 MRPL39,MRPL39 EXON Silent,Missense_A331T exm1563405 21 26965147 [A/C] NM_080794,NM_017446 MRPL39,MRPL39 EXON Missense_V300L,Missense_V300L exm1563413 21 26965274 [T/C] NM_080794,NM_017446 MRPL39,MRPL39 EXON Missense_I257M,Missense_I257M exm1563424 21 26972134 [A/G] NM_080794,NM_017446 MRPL39,MRPL39 EXON Missense_L189F,Missense_L189F exm1563431 21 26973719 [T/C] NM_080794,NM_017446 MRPL39,MRPL39 EXON Missense_E161K,Missense_E161K exm1563437 21 26976148 [T/A] NM_080794,NM_017446 MRPL39,MRPL39 EXON Missense_F127Y,Missense_F127Y exm1563438 21 26976149 [A/G] NM_080794,NM_017446 MRPL39,MRPL39 EXON Missense_F127L,Missense_F127L exm2254538 21 26976222 [T/C] NM_080794,NM_017446 MRPL39,MRPL39 EXON Synonymous_K102K,Synonymous_K102K exm1563444 21 26978790 [T/C] NM_080794,NM_017446 MRPL39,MRPL39 EXON Missense_N84S,Missense_N84S exm1563445 21 26978803 [T/C] NM_080794,NM_017446 MRPL39,MRPL39 EXON Missense_V80M,Missense_V80M exm1563446 21 26978806 [A/C] NM_080794,NM_017446 MRPL39,MRPL39 EXON Missense_F79V,Missense_F79V exm2254539 21 26978879 [T/C] NM_080794,NM_017446 MRPL39,MRPL39 EXON Synonymous_R54R,Synonymous_R54R exm1563449 21 26978879 [T/C] NM_080794,NM_017446 MRPL39,MRPL39 EXON Synonymous_R54R,Synonymous_R54R exm1563453 21 26978950 [A/G] NM_080794,NM_017446 MRPL39,MRPL39 EXON Missense_S31P,Missense_S31P exm1563459 21 26979768 [A/C] NM_080794,NM_017446 MRPL39,MRPL39 EXON Missense_G7V,Missense_G7V exm1563461 21 26979775 [A/C] NM_080794,NM_017446 MRPL39,MRPL39 EXON Missense_A5S,Missense_A5S exm1563462 21 26979786 [A/G] NM_080794,NM_017446 MRPL39,MRPL39 EXON Missense_M1T,Missense_M1T exm-rs17001239 21 27002377 [T/C] exm1563470 21 27012154 [A/C] NM_001270408,NM_001270407,NR_072999,NM_021219 JAM2,JAM2,JAM2,JAM2 EXON Missense_H7Q,Missense_H7Q,Silent,Missense_H7Q exm1563479 21 27062246 [T/C] NM_001270408,NM_001270407,NR_072999,NM_021219 JAM2,JAM2,JAM2,JAM2 EXON Missense_R68W,Silent,Silent,Missense_R68W exm1563484 21 27071018 [A/C] NM_001270408,NM_001270407,NR_072999,NM_021219 JAM2,JAM2,JAM2,JAM2 EXON Missense_P142T,Missense_P106T,Silent,Missense_P142T exm2234847 21 27071133 [A/G] NM_001270408,NM_001270407,NR_072999,NM_021219 JAM2,JAM2,JAM2,JAM2 EXON Missense_R180K,Missense_R144K,Silent,Missense_R180K exm1563488 21 27071142 [T/C] NM_001270408,NM_001270407,NR_072999,NM_021219 JAM2,JAM2,JAM2,JAM2 EXON Missense_S183F,Missense_S147F,Silent,Missense_S183F exm1563490 21 27074510 [C/G] NM_001270408,NM_001270407,NR_072999,NM_021219 JAM2,JAM2,JAM2,JAM2 EXON Missense_T209S,Missense_T173S,Silent,Missense_T209S exm1563492 21 27078296 [T/C] NM_001270408,NM_001270407,NR_072999,NM_021219 JAM2,JAM2,JAM2,JAM2 EXON Missense_L235F,Missense_L199F,Silent,Missense_L235F exm1563493 21 27078305 [A/G] NM_001270408,NM_001270407,NR_072999,NM_021219 JAM2,JAM2,JAM2,JAM2 EXON Missense_S238G,Missense_S202G,Silent,Missense_S238G exm1563496 21 27078323 [A/G] NM_001270408,NM_001270407,NR_072999,NM_021219 JAM2,JAM2,JAM2,JAM2 EXON Missense_V244I,Missense_V208I,Silent,Missense_V244I exm1563508 21 27084686 [A/C] NM_001270408,NM_001270407,NR_072999,NM_021219 JAM2,JAM2,JAM2,JAM2 EXON Missense_S286R,Missense_S250R,Silent,Missense_S286R exm1563528 21 27102014 [C/G] NM_001003703,NM_001003701,NM_001685,NM_001003696,NM_001003697 ATP5J,ATP5J,ATP5J,ATP5J,ATP5J EXON Missense_A31G,Missense_A39G,Missense_A31G,Missense_A31G,Missense_A31G exm1563533 21 27107251 [C/G] NM_001003703,NM_001003701,NM_001685,NM_001003696,NM_001003697 ATP5J,ATP5J,ATP5J,ATP5J,ATP5J EXON Silent,Missense_G6R,Silent,Silent,Silent exm1563537 21 27117541 [T/C] NM_001197297,NM_002040 GABPA,GABPA EXON Missense_A33V,Missense_A33V exm1563558 21 27134651 [A/G] NM_001197297,NM_002040 GABPA,GABPA EXON Missense_M259I,Missense_M259I exm2275403 21 27136968 [A/C] NM_001197297,NM_002040 GABPA,GABPA EXON Synonymous_R336R,Synonymous_R336R exm1563576 21 27141527 [T/C] NM_001197297,NM_002040 GABPA,GABPA EXON Missense_T450M,Missense_T450M exm2272968 21 27168049 [T/G] exm1563589 21 27264107 [A/G] NM_001136129,NM_201414,NM_001204302,NM_201413,NM_001204303,NM_001204301,NM_001136130,NM_001136131,NM_001136016,NM_000484 APP,APP,APP,APP,APP,APP,APP,APP,APP,APP EXON Missense_A582V,Missense_A638V,Missense_A676V,Missense_A694V,Missense_A620V,Missense_A695V,Missense_A657V,Missense_A603V,Missense_A689V,Missense_A713V exm1563591 21 27264117 [T/C] NM_001136129,NM_201414,NM_001204302,NM_201413,NM_001204303,NM_001204301,NM_001136130,NM_001136131,NM_001136016,NM_000484 APP,APP,APP,APP,APP,APP,APP,APP,APP,APP EXON Missense_V579I,Missense_V635I,Missense_V673I,Missense_V691I,Missense_V617I,Missense_V692I,Missense_V654I,Missense_V600I,Missense_V686I,Missense_V710I exm1563596 21 27269932 [T/C] NM_001136129,NM_201414,NM_001204302,NM_201413,NM_001204303,NM_001204301,NM_001136130,NM_001136131,NM_001136016,NM_000484 APP,APP,APP,APP,APP,APP,APP,APP,APP,APP EXON Missense_A542T,Missense_A598T,Missense_A636T,Missense_A654T,Missense_A580T,Missense_A655T,Missense_A617T,Missense_A563T,Missense_A649T,Missense_A673T exm1563604 21 27277371 [T/C] NM_001136129,NM_201414,NM_001204302,NM_201413,NM_001204303,NM_001204301,NM_001136130,NM_001136131,NM_001136016,NM_000484 APP,APP,APP,APP,APP,APP,APP,APP,APP,APP EXON Missense_R512H,Missense_R568H,Silent,Missense_R624H,Silent,Silent,Missense_R587H,Missense_R533H,Missense_R619H,Missense_R643H exm1563608 21 27284122 [T/C] NM_001136129,NM_201414,NM_001204302,NM_201413,NM_001204303,NM_001204301,NM_001136130,NM_001136131,NM_001136016,NM_000484 APP,APP,APP,APP,APP,APP,APP,APP,APP,APP EXON Missense_S483G,Missense_S539G,Missense_S595G,Missense_S595G,Missense_S539G,Missense_S614G,Missense_S558G,Missense_S504G,Missense_S590G,Missense_S614G exm1563610 21 27284152 [T/C] NM_001136129,NM_201414,NM_001204302,NM_201413,NM_001204303,NM_001204301,NM_001136130,NM_001136131,NM_001136016,NM_000484 APP,APP,APP,APP,APP,APP,APP,APP,APP,APP EXON Missense_V473M,Missense_V529M,Missense_V585M,Missense_V585M,Missense_V529M,Missense_V604M,Missense_V548M,Missense_V494M,Missense_V580M,Missense_V604M exm1563613 21 27284167 [T/C] NM_001136129,NM_201414,NM_001204302,NM_201413,NM_001204303,NM_001204301,NM_001136130,NM_001136131,NM_001136016,NM_000484 APP,APP,APP,APP,APP,APP,APP,APP,APP,APP EXON Missense_E468K,Missense_E524K,Missense_E580K,Missense_E580K,Missense_E524K,Missense_E599K,Missense_E543K,Missense_E489K,Missense_E575K,Missense_E599K exm1563615 21 27284211 [C/G] NM_001136129,NM_201414,NM_001204302,NM_201413,NM_001204303,NM_001204301,NM_001136130,NM_001136131,NM_001136016,NM_000484 APP,APP,APP,APP,APP,APP,APP,APP,APP,APP EXON Missense_P453R,Missense_P509R,Missense_P565R,Missense_P565R,Missense_P509R,Missense_P584R,Missense_P528R,Missense_P474R,Missense_P560R,Missense_P584R exm1563617 21 27284273 [A/G] NM_001136129,NM_201414,NM_001204302,NM_201413,NM_001204303,NM_001204301,NM_001136130,NM_001136131,NM_001136016,NM_000484 APP,APP,APP,APP,APP,APP,APP,APP,APP,APP EXON Synonymous_D432D,Synonymous_D488D,Synonymous_D544D,Synonymous_D544D,Synonymous_D488D,Synonymous_D563D,Synonymous_D507D,Synonymous_D453D,Synonymous_D539D,Synonymous_D563D exm1563621 21 27326911 [T/A] NM_001136129,NM_201414,NM_001204302,NM_201413,NM_001204303,NM_001204301,NM_001136130,NM_001136131,NM_001136016,NM_000484 APP,APP,APP,APP,APP,APP,APP,APP,APP,APP EXON Missense_D429E,Missense_D485E,Missense_D541E,Missense_D541E,Missense_D485E,Missense_D560E,Missense_D504E,Missense_D450E,Missense_D536E,Missense_D560E exm1563631 21 27347383 [T/C] NM_001136129,NM_201414,NM_001204302,NM_201413,NM_001204303,NM_001204301,NM_001136130,NM_001136131,NM_001136016,NM_000484 APP,APP,APP,APP,APP,APP,APP,APP,APP,APP EXON Synonymous_R355R,Synonymous_R411R,Synonymous_R467R,Synonymous_R467R,Synonymous_R411R,Synonymous_R486R,Synonymous_R430R,Synonymous_R376R,Synonymous_R462R,Synonymous_R486R exm1563643 21 27369674 [T/C] NM_001136129,NM_201414,NM_001204302,NM_201413,NM_001204303,NM_001204301,NM_001136130,NM_001136131,NM_001136016,NM_000484 APP,APP,APP,APP,APP,APP,APP,APP,APP,APP Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm1563656 21 27394195 [A/T] NM_001136129,NM_201414,NM_001204302,NM_201413,NM_001204303,NM_001204301,NM_001136130,NM_001136131,NM_001136016,NM_000484 APP,APP,APP,APP,APP,APP,APP,APP,APP,APP EXON Missense_T220S,Missense_T276S,Missense_T276S,Missense_T276S,Missense_T276S,Missense_T276S,Missense_T220S,Missense_T241S,Missense_T271S,Missense_T276S exm1563663 21 27394317 [A/G] NM_001136129,NM_201414,NM_001204302,NM_201413,NM_001204303,NM_001204301,NM_001136130,NM_001136131,NM_001136016,NM_000484 APP,APP,APP,APP,APP,APP,APP,APP,APP,APP EXON Missense_A179V,Missense_A235V,Missense_A235V,Missense_A235V,Missense_A235V,Missense_A235V,Missense_A179V,Missense_A200V,Missense_A230V,Missense_A235V exm1563669 21 27423386 [A/G] NM_001136129,NM_201414,NM_001204302,NM_201413,NM_001204303,NM_001204301,NM_001136130,NM_001136131,NM_001136016,NM_000484 APP,APP,APP,APP,APP,APP,APP,APP,APP,APP EXON Missense_S142P,Missense_S198P,Missense_S198P,Missense_S198P,Missense_S198P,Missense_S198P,Missense_S142P,Missense_S163P,Missense_S193P,Missense_S198P exm1563684 21 27462388 [T/C] NM_001136129,NM_201414,NM_001204302,NM_201413,NM_001204303,NM_001204301,NM_001136130,NM_001136131,NM_001136016,NM_000484 APP,APP,APP,APP,APP,APP,APP,APP,APP,APP EXON Missense_V20I,Missense_V76I,Missense_V76I,Missense_V76I,Missense_V76I,Missense_V76I,Missense_V20I,Missense_V41I,Missense_V71I,Missense_V76I exm-rs2830051 21 27465355 [T/C] NM_001136129,NM_201414,NM_001204302,NM_201413,NM_001204303,NM_001204301,NM_001136130,NM_001136131,NM_001136016,NM_000484 APP,APP,APP,APP,APP,APP,APP,APP,APP,APP Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm1563689 21 27484463 [T/C] NM_001136129,NM_201414,NM_001204302,NM_201413,NM_001204303,NM_001204301,NM_001136130,NM_001136131,NM_001136016,NM_000484 APP,APP,APP,APP,APP,APP,APP,APP,APP,APP EXON Silent,Missense_V20I,Missense_V20I,Missense_V20I,Missense_V20I,Missense_V20I,Silent,Silent,Missense_V15I,Missense_V20I exm2254542 21 27514740 [T/C] NM_001136129,NM_201414,NM_001204302,NM_201413,NM_001204303,NM_001204301,NM_001136130,NM_001136131,NM_000484 APP,APP,APP,APP,APP,APP,APP,APP,APP Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm1563697 21 27840884 [A/G] NM_052954 CYYR1 EXON Missense_P134L exm1563709 21 27852639 [T/C] NM_052954 CYYR1 EXON Missense_V96M exm1563710 21 27852641 [T/C] NM_052954 CYYR1 EXON Missense_R95H exm1563713 21 27852668 [A/G] NM_052954 CYYR1 EXON Missense_M86T exm1563715 21 27852734 [A/G] NM_052954 CYYR1 EXON Missense_A64V exm1563716 21 27938584 [T/C] NM_052954 CYYR1 Silent exm1563718 21 27938630 [A/G] NM_052954 CYYR1 EXON Missense_T44M exm1563726 21 27945256 [T/C] NM_052954 CYYR1 EXON Missense_D2N exm2272970 21 28025911 [T/C] exm1563732 21 28209989 [T/C] NM_006988 ADAMTS1 EXON Missense_H938R exm1563736 21 28210069 [A/C] NM_006988 ADAMTS1 EXON Missense_Q911H exm1563749 21 28210368 [A/G] NM_006988 ADAMTS1 EXON Missense_R812C exm1563756 21 28210457 [T/C] NM_006988 ADAMTS1 EXON Missense_D782G exm1563759 21 28210535 [T/C] NM_006988 ADAMTS1 EXON Missense_R756Q exm1563769 21 28210854 [T/C] NM_006988 ADAMTS1 EXON Missense_R703H exm1563773 21 28210930 [T/C] NM_006988 ADAMTS1 EXON Missense_V678I exm1563776 21 28211920 [T/C] NM_006988 ADAMTS1 EXON Missense_V672I exm1563781 21 28211991 [T/C] NM_006988 ADAMTS1 EXON Missense_K648R exm1563784 21 28212043 [T/C] NM_006988 ADAMTS1 EXON Missense_E631K exm1563796 21 28212320 [T/C] NM_006988 ADAMTS1 EXON Missense_G576S exm1563798 21 28212379 [A/G] NM_006988 ADAMTS1 EXON Missense_T556M exm1563807 21 28212788 [A/G] NM_006988 ADAMTS1 EXON Missense_T491I exm1563823 21 28214701 [T/C] NM_006988 ADAMTS1 EXON Missense_R345Q exm1978056 21 28214779 [A/G] NM_006988 ADAMTS1 EXON Missense_P319L exm1563833 21 28214911 [T/C] NM_006988 ADAMTS1 EXON Missense_G275D exm1563834 21 28214926 [A/G] NM_006988 ADAMTS1 EXON Missense_M270T exm1563835 21 28214974 [T/A] NM_006988 ADAMTS1 EXON Missense_V254E exm1563843 21 28216595 [C/G] NM_006988 ADAMTS1 EXON Missense_A227P exm1563844 21 28216598 [T/C] NM_006988 ADAMTS1 EXON Missense_G226R exm1563855 21 28216862 [A/C] NM_006988 ADAMTS1 EXON Missense_A138S exm1563863 21 28217044 [T/C] NM_006988 ADAMTS1 EXON Missense_R77H exm1563882 21 28296484 [T/C] NM_007038 ADAMTS5 EXON Missense_G894D exm1563887 21 28296559 [T/A] NM_007038 ADAMTS5 EXON Missense_K869I exm1563890 21 28296688 [A/G] NM_007038 ADAMTS5 EXON Missense_T826M exm1563891 21 28296723 [C/G] NM_007038 ADAMTS5 EXON Missense_R814S exm2234853 21 28302335 [T/C] NM_007038 ADAMTS5 EXON Missense_V699I exm1563904 21 28302355 [A/G] NM_007038 ADAMTS5 EXON Missense_L692P exm1563911 21 28305212 [T/C] NM_007038 ADAMTS5 EXON Missense_R614H exm1563915 21 28305324 [T/C] NM_007038 ADAMTS5 EXON Missense_G577S exm1563927 21 28315761 [A/G] NM_007038 ADAMTS5 EXON Missense_A448V exm1563938 21 28327059 [A/G] NM_007038 ADAMTS5 EXON Synonymous_I412I exm1563944 21 28337726 [T/C] NM_007038 ADAMTS5 EXON Missense_E329K exm1563947 21 28337783 [A/G] NM_007038 ADAMTS5 EXON Missense_H310Y exm1978155 21 28338230 [T/C] NM_007038 ADAMTS5 EXON Missense_A161T exm1563973 21 28338298 [C/G] NM_007038 ADAMTS5 EXON Missense_G138A exm1563974 21 28338307 [T/G] NM_007038 ADAMTS5 EXON Missense_T135K exm1563985 21 28338425 [A/G] NM_007038 ADAMTS5 EXON Missense_R96W exm1563989 21 28338449 [A/C] NM_007038 ADAMTS5 EXON Missense_G88C exm1563993 21 28338524 [T/G] NM_007038 ADAMTS5 EXON Missense_P63T exm-rs2830840 21 28665347 [C/G] NR_049807 MIR5009 Silent exm-rs239713 21 28696476 [T/C] NR_049807 MIR5009 Silent exm-rs9977499 21 28734997 [T/C] NR_049807 MIR5009 Silent exm-rs1452093 21 28744356 [A/G] NR_049807 MIR5009 Silent exm2272971 21 28774869 [T/C] NR_049807 MIR5009 Silent exm2272972 21 29335827 [T/C] exm-rs9305354 21 29475196 [T/C] exm-rs2205373 21 29849170 [T/C] exm2254559 21 30106926 [A/G] exm-rs2832077 21 30141021 [A/G] exm1564039 21 30250573 [A/G] NR_047510,NM_013240,NM_182749 N6AMT1,N6AMT1,N6AMT1 EXON Silent,Missense_P160L,Missense_P132L exm1564040 21 30250595 [T/C] NR_047510,NM_013240,NM_182749 N6AMT1,N6AMT1,N6AMT1 EXON Silent,Missense_D153N,Missense_D125N exm1564054 21 30255347 [A/C] NR_047510,NM_013240,NM_182749 N6AMT1,N6AMT1,N6AMT1 EXON Silent,Missense_A61S,Missense_A61S exm1564060 21 30257568 [T/C] NR_047510,NM_013240,NM_182749 N6AMT1,N6AMT1,N6AMT1 EXON Silent,Missense_N34D,Missense_N34D exm1564061 21 30257594 [A/G] NR_047510,NM_013240,NM_182749 N6AMT1,N6AMT1,N6AMT1 EXON Silent,Missense_P25L,Missense_P25L exm1564062 21 30257598 [T/C] NR_047510,NM_013240,NM_182749 N6AMT1,N6AMT1,N6AMT1 EXON Silent,Missense_E24K,Missense_E24K exm1564067 21 30257652 [A/G] NR_047510,NM_013240,NM_182749 N6AMT1,N6AMT1,N6AMT1 EXON Silent,Missense_F6L,Missense_F6L exm1564090 21 30308902 [A/G] NM_015565 LTN1 EXON Missense_P1580S exm1564092 21 30309016 [A/G] NM_015565 LTN1 EXON Missense_R1542W exm1564115 21 30318549 [C/G] NM_015565 LTN1 EXON Missense_G1229A exm1564122 21 30324530 [T/C] NM_015565 LTN1 EXON Missense_R1145Q exm1564124 21 30325569 [A/G] NM_015565 LTN1 EXON Missense_T1116M exm1564126 21 30325585 [A/G] NM_015565 LTN1 EXON Missense_R1111C exm1564131 21 30329141 [A/C] NM_015565 LTN1 EXON Missense_V1054F exm1564140 21 30330724 [A/C] NM_015565 LTN1 EXON Missense_S957A exm1564141 21 30330783 [T/C] NM_015565 LTN1 EXON Missense_K937R exm1564149 21 30331867 [T/C] NM_015565 LTN1 EXON Missense_G882R exm1564154 21 30331935 [A/G] NM_015565 LTN1 EXON Missense_A859V exm1564155 21 30331955 [T/G] NM_015565 LTN1 EXON Missense_K852N exm1564157 21 30332881 [A/G] NM_015565 LTN1 EXON Missense_W817R exm1564158 21 30332911 [T/C] NM_015565 LTN1 EXON Missense_V807I exm1564180 21 30339120 [A/C] NM_015565 LTN1 EXON Missense_G611C exm1564189 21 30339234 [T/C] NM_015565 LTN1 EXON Missense_S573G exm1564198 21 30339314 [A/G] NM_015565 LTN1 EXON Missense_A546V exm1564202 21 30339427 [T/G] NM_015565 LTN1 EXON Missense_E508D exm1564207 21 30341805 [A/T] NM_015565 LTN1 EXON Missense_M478L exm1564210 21 30341891 [A/G] NM_015565 LTN1 EXON Missense_L449S exm1564215 21 30342933 [A/C] NM_015565 LTN1 EXON Missense_Q418H exm1564217 21 30342992 [A/G] NM_015565 LTN1 EXON Missense_R399W exm1564218 21 30343003 [T/C] NM_015565 LTN1 EXON Missense_R395H exm1564227 21 30343646 [T/C] NM_015565 LTN1 EXON Missense_I357V exm1564240 21 30357039 [T/C] NM_015565 LTN1 EXON Missense_A230T exm1564247 21 30357122 [T/C] NM_015565 LTN1 EXON Missense_C202Y exm1564270 21 30378836 [T/C] NM_016940 RWDD2B EXON Missense_R288G exm2234863 21 30378852 [T/G] NM_016940 RWDD2B EXON Missense_F282L exm1564271 21 30378881 [A/T] NM_016940 RWDD2B EXON Nonsense_K273X exm1564274 21 30378938 [A/G] NM_016940 RWDD2B EXON Missense_R254C exm1564278 21 30380183 [A/C] NM_016940 RWDD2B EXON Missense_E208D exm1564285 21 30380323 [T/C] NM_016940 RWDD2B EXON Missense_A162T exm1564287 21 30380359 [A/G] NM_016940 RWDD2B EXON Missense_C150R exm1564288 21 30380382 [T/C] NM_016940 RWDD2B EXON Missense_Q142R exm1564291 21 30380560 [T/C] NM_016940 RWDD2B Silent exm1564298 21 30380774 [T/C] NM_016940 RWDD2B EXON Missense_R79Q exm1564305 21 30380903 [A/G] NM_016940 RWDD2B EXON Missense_A36V exm1564309 21 30380941 [A/T] NM_016940 RWDD2B EXON Missense_E23D exm1564312 21 30391544 [T/C] NM_016940 RWDD2B EXON Missense_A19T exm1564333 21 30408670 [A/T] NM_001001992,NM_001032410,NM_006447 USP16,USP16,USP16 EXON Missense_Q141H,Missense_Q141H,Missense_Q141H exm1564341 21 30409731 [A/G] NM_001001992,NM_001032410,NM_006447 USP16,USP16,USP16 EXON Missense_V194M,Missense_V195M,Missense_V195M exm1978699 21 30410674 [A/G] NM_001001992,NM_001032410,NM_006447 USP16,USP16,USP16 EXON Missense_V218M,Missense_V219M,Missense_V219M exm1564345 21 30410738 [T/A] NM_001001992,NM_001032410,NM_006447 USP16,USP16,USP16 EXON Missense_D239V,Missense_D240V,Missense_D240V exm1564358 21 30414335 [T/C] NM_001001992,NM_001032410,NM_006447 USP16,USP16,USP16 EXON Synonymous_D343D,Synonymous_D344D,Synonymous_D344D exm1564360 21 30414400 [T/C] NM_001001992,NM_001032410,NM_006447 USP16,USP16,USP16 EXON Missense_M365T,Missense_M366T,Missense_M366T exm1978716 21 30414420 [A/G] NM_001001992,NM_001032410,NM_006447 USP16,USP16,USP16 EXON Missense_R372G,Missense_R373G,Missense_R373G exm1564361 21 30414793 [A/G] NM_001001992,NM_001032410,NM_006447 USP16,USP16,USP16 EXON Missense_V374I,Missense_V375I,Missense_V375I exm1564372 21 30419039 [A/G] NM_001001992,NM_001032410,NM_006447 USP16,USP16,USP16 EXON Missense_I469V,Missense_I470V,Missense_I470V exm1564382 21 30419315 [G/C] NM_001001992,NM_001032410,NM_006447 USP16,USP16,USP16 EXON Missense_L561V,Missense_L562V,Missense_L562V exm1564383 21 30419319 [T/C] NM_001001992,NM_001032410,NM_006447 USP16,USP16,USP16 EXON Missense_T562M,Missense_T563M,Missense_T563M exm1564387 21 30419406 [T/G] NM_001001992,NM_001032410,NM_006447 USP16,USP16,USP16 EXON Missense_I591R,Missense_I592R,Missense_I592R exm1564389 21 30419463 [A/G] NM_001001992,NM_001032410,NM_006447 USP16,USP16,USP16 EXON Missense_E610G,Missense_E611G,Missense_E611G exm1978732 21 30419535 [A/G] NM_001001992,NM_001032410,NM_006447 USP16,USP16,USP16 EXON Missense_H634R,Missense_H635R,Missense_H635R exm1564391 21 30419544 [A/G] NM_001001992,NM_001032410,NM_006447 USP16,USP16,USP16 EXON Missense_Y637C,Missense_Y638C,Missense_Y638C exm1564392 21 30419555 [T/C] NM_001001992,NM_001032410,NM_006447 USP16,USP16,USP16 EXON Missense_R641C,Missense_R642C,Missense_R642C exm1564407 21 30426145 [C/G] NM_001001992,NM_001032410,NM_006447 USP16,USP16,USP16 EXON Missense_R738T,Missense_R739T,Missense_R739T exm1564412 21 30426398 [G/C] NM_001001992,NM_001032410,NM_006447 USP16,USP16,USP16 EXON Missense_E787Q,Missense_E788Q,Missense_E788Q exm1564423 21 30433636 [A/C] NM_006585 CCT8 EXON Missense_V463L exm1564429 21 30433876 [T/C] NM_006585 CCT8 EXON Missense_V409I exm1564431 21 30434481 [T/C] NM_006585 CCT8 EXON Missense_D394N exm1564433 21 30434534 [A/C] NM_006585 CCT8 EXON Missense_V376G exm1564437 21 30434694 [A/G] NM_006585 CCT8 EXON Missense_Y351H exm1564445 21 30435835 [T/C] NM_006585 CCT8 EXON Missense_K260R exm1564454 21 30439213 [A/G] NM_006585 CCT8 EXON Synonymous_C187C exm1564463 21 30439310 [T/C] NM_006585 CCT8 EXON Missense_R155Q exm1564465 21 30439335 [T/C] NM_006585 CCT8 EXON Missense_V147I exm1564471 21 30441775 [T/G] NM_006585 CCT8 EXON Missense_N67T exm1564494 21 30464794 [A/G] NM_020152 C21orf7 EXON Missense_M88V exm1564497 21 30464866 [A/G] NM_020152 C21orf7 EXON Missense_I112V exm1564498 21 30464878 [A/G] NM_020152 C21orf7 EXON Missense_V116M exm2264726 21 30489300 [A/C] NM_020152 C21orf7 Silent exm1564501 21 30521529 [C/G] NM_020152 C21orf7 EXON Missense_D130E exm2273005 21 30567941 [T/G] NR_027072 LINC00189 Silent exm1564516 21 30693612 [A/G] NM_001186,NM_206866,NR_027655 BACH1,BACH1,BACH1 EXON Missense_S4N,Missense_S4N,Silent exm1564527 21 30693759 [T/C] NM_001186,NM_206866,NR_027655 BACH1,BACH1,BACH1 EXON Missense_A53V,Missense_A53V,Silent exm1564535 21 30698597 [A/G] NM_001186,NM_206866,NR_027655 BACH1,BACH1,BACH1 EXON Missense_Q151R,Missense_Q151R,Silent exm1564538 21 30698746 [T/G] NM_001186,NM_206866,NR_027655 BACH1,BACH1,BACH1 EXON Missense_D201Y,Missense_D201Y,Silent exm1564539 21 30698748 [C/G] NM_001186,NM_206866,NR_027655 BACH1,BACH1,BACH1 EXON Missense_D201E,Missense_D201E,Silent exm1564544 21 30698874 [T/A] NM_001186,NM_206866,NR_027655 BACH1,BACH1,BACH1 EXON Missense_E243D,Missense_E243D,Silent exm1564549 21 30698998 [A/G] NM_001186,NM_206866,NR_027655 BACH1,BACH1,BACH1 EXON Missense_A285T,Missense_A285T,Silent exm1564552 21 30699046 [A/G] NM_001186,NM_206866,NR_027655 BACH1,BACH1,BACH1 EXON Missense_T301A,Missense_T301A,Silent exm1564553 21 30699085 [T/C] NM_001186,NM_206866,NR_027655 BACH1,BACH1,BACH1 EXON Missense_S314P,Missense_S314P,Silent exm1564554 21 30699137 [A/G] NM_001186,NM_206866,NR_027655 BACH1,BACH1,BACH1 EXON Missense_Q331R,Missense_Q331R,Silent exm1564567 21 30699537 [A/G] NM_001186,NM_206866,NR_027655 BACH1,BACH1,BACH1 EXON Missense_I464M,Missense_I464M,Silent exm1564572 21 30699560 [A/G] NM_001186,NM_206866,NR_027655 BACH1,BACH1,BACH1 EXON Missense_C472Y,Missense_C472Y,Silent exm1564574 21 30699637 [T/A] NM_001186,NM_206866,NR_027655 BACH1,BACH1,BACH1 EXON Missense_I498F,Missense_I498F,Silent exm1564596 21 30715078 [T/C] NM_001186,NM_206866,NR_027655 BACH1,BACH1,BACH1 EXON Missense_A712V,Missense_A712V,Silent exm1564615 21 30909640 [T/C] NM_175611 GRIK1 EXON Missense_K877E exm1564625 21 30925928 [A/G] NM_175611,NM_000830 GRIK1,GRIK1 EXON Silent,Missense_L902S exm1564626 21 30925949 [A/G] NM_175611,NM_000830 GRIK1,GRIK1 EXON Silent,Missense_T895M exm1564628 21 30925976 [T/A] NM_175611,NM_000830 GRIK1,GRIK1 EXON Silent,Missense_N886I exm1564632 21 30926024 [A/G] NM_175611,NM_000830 GRIK1,GRIK1 EXON Silent,Missense_A870V exm1564670 21 30963448 [A/G] NM_175611,NM_000830 GRIK1,GRIK1 EXON Missense_I435T,Missense_I450T exm1564673 21 30963479 [T/A] NM_175611,NM_000830 GRIK1,GRIK1 EXON Missense_I425F,Missense_I440F exm1564713 21 31023569 [T/C] NM_175611,NM_000830 GRIK1,GRIK1 EXON Missense_V275I,Missense_V275I exm1564715 21 31023605 [A/G] NM_175611,NM_000830 GRIK1,GRIK1 EXON Missense_F263L,Missense_F263L exm1564726 21 31045482 [A/G] NM_175611,NM_000830 GRIK1,GRIK1 EXON Synonymous_L183L,Synonymous_L183L exm-rs363512 21 31050817 [A/G] NM_175611,NM_000830 GRIK1,GRIK1 Silent,Silent exm1564732 21 31062092 [T/C] NM_175611,NM_000830 GRIK1,GRIK1 EXON Missense_Y167C,Missense_Y167C exm1564733 21 31062096 [A/G] NM_175611,NM_000830 GRIK1,GRIK1 EXON Missense_L166F,Missense_L166F exm1564740 21 31062246 [T/C] NM_175611,NM_000830 GRIK1,GRIK1 EXON Missense_V116I,Missense_V116I exm1564742 21 31062275 [C/G] NM_175611,NM_000830 GRIK1,GRIK1 EXON Missense_A106G,Missense_A106G exm2273006 21 31110503 [T/C] NM_175611,NM_000830 GRIK1,GRIK1 Silent,Silent exm-rs458685 21 31177511 [A/G] NM_175611,NM_000830 GRIK1,GRIK1 Silent,Silent exm2268366 21 31224266 [A/G] NM_175611,NM_000830 GRIK1,GRIK1 Silent,Silent exm-rs468413 21 31233994 [T/C] NM_175611,NM_000830 GRIK1,GRIK1 Silent,Silent exm1564754 21 31311767 [T/G] NM_175611,NM_000830 GRIK1,GRIK1 EXON Missense_S18R,Missense_S18R exm-rs9305406 21 31386243 [A/G] exm1979201 21 31538277 [A/G] NM_012131 CLDN17 EXON Missense_S220F exm1564766 21 31538329 [A/G] NM_012131 CLDN17 EXON Missense_R203C exm1564768 21 31538358 [T/C] NM_012131 CLDN17 EXON Missense_Q193R exm1564771 21 31538461 [A/G] NM_012131 CLDN17 EXON Nonsense_R159X exm1564779 21 31538682 [T/C] NM_012131 CLDN17 EXON Missense_C85Y exm1564780 21 31538692 [T/C] NM_012131 CLDN17 EXON Missense_A82T exm1564781 21 31538694 [T/C] NM_012131 CLDN17 EXON Missense_R81Q exm1564784 21 31538704 [T/C] NM_012131 CLDN17 EXON Missense_E78K exm1979203 21 31538769 [T/C] NM_012131 CLDN17 EXON Missense_R56Q exm1564790 21 31538811 [A/G] NM_012131 CLDN17 EXON Missense_V42A exm2234872 21 31538865 [T/G] NM_012131 CLDN17 EXON Missense_T24K exm1564801 21 31587597 [A/G] NM_199328 CLDN8 EXON Missense_P216L exm1564804 21 31587620 [A/C] NM_199328 CLDN8 EXON Missense_S208R exm1564812 21 31587793 [A/G] NM_199328 CLDN8 EXON Missense_S151P exm1564814 21 31587859 [T/C] NM_199328 CLDN8 EXON Missense_T129A exm1564816 21 31587871 [T/C] NM_199328 CLDN8 EXON Missense_I125V exm1564819 21 31587954 [A/G] NM_199328 CLDN8 EXON Missense_M97T exm1564823 21 31588080 [A/C] NM_199328 CLDN8 EXON Missense_V55G exm2254567 21 31588676 [T/G] exm1564832 21 31654504 [T/G] NM_001085455 KRTAP24-1 EXON Missense_R249S exm1564838 21 31654638 [T/C] NM_001085455 KRTAP24-1 EXON Missense_V205M exm1564844 21 31654809 [T/C] NM_001085455 KRTAP24-1 EXON Missense_G148S exm1564846 21 31654830 [T/C] NM_001085455 KRTAP24-1 EXON Missense_A141T exm1564851 21 31654917 [T/C] NM_001085455 KRTAP24-1 EXON Missense_V112I exm1564860 21 31655108 [A/G] NM_001085455 KRTAP24-1 EXON Missense_P48L exm1564861 21 31655114 [T/C] NM_001085455 KRTAP24-1 EXON Missense_C46Y exm1564873 21 31661691 [A/G] NM_001128598 KRTAP25-1 EXON Missense_S40P exm1564880 21 31691792 [T/G] NM_203405 KRTAP26-1 EXON Missense_P188T exm1564882 21 31691830 [A/C] NM_203405 KRTAP26-1 EXON Missense_S175I exm1564889 21 31691986 [T/C] NM_203405 KRTAP26-1 EXON Missense_R123H exm1564892 21 31691993 [T/C] NM_203405 KRTAP26-1 EXON Missense_G121S exm1564897 21 31692044 [A/C] NM_203405 KRTAP26-1 EXON Missense_S104A exm1564901 21 31692103 [A/G] NM_203405 KRTAP26-1 EXON Missense_T84I exm1564908 21 31692173 [T/C] NM_203405 KRTAP26-1 EXON Missense_G61S exm1564910 21 31692277 [T/G] NM_203405 KRTAP26-1 EXON Missense_S26Y exm1564914 21 31692339 [T/G] NM_203405 KRTAP26-1 EXON Missense_N5K exm1564915 21 31692346 [T/C] NM_203405 KRTAP26-1 EXON Missense_C3Y exm1564924 21 31709460 [A/G] NM_001077711 KRTAP27-1 EXON Missense_L176P exm1564928 21 31709502 [T/C] NM_001077711 KRTAP27-1 EXON Missense_Q162R exm1564929 21 31709521 [A/G] NM_001077711 KRTAP27-1 EXON Missense_R156C exm1564937 21 31709679 [A/T] NM_001077711 KRTAP27-1 EXON Missense_E103V exm1564939 21 31709691 [A/G] NM_001077711 KRTAP27-1 EXON Missense_A99V exm1564941 21 31709703 [T/C] NM_001077711 KRTAP27-1 EXON Missense_C95Y exm1564942 21 31709731 [A/G] NM_001077711 KRTAP27-1 EXON Nonsense_Q86X exm1564943 21 31709740 [T/C] NM_001077711 KRTAP27-1 EXON Missense_G83R exm1564947 21 31709826 [A/C] NM_001077711 KRTAP27-1 EXON Missense_C54F exm1564948 21 31709885 [A/C] NM_001077711 KRTAP27-1 EXON Missense_L34F exm1564949 21 31709935 [A/G] NM_001077711 KRTAP27-1 EXON Missense_L18F exm1564957 21 31720788 [T/G] NM_181624 KRTAP23-1 EXON Missense_H46P exm1564960 21 31720884 [A/G] NM_181624 KRTAP23-1 EXON Missense_S14F exm1564962 21 31720887 [T/C] NM_181624 KRTAP23-1 EXON Missense_H13R exm1564963 21 31720905 [C/G] NM_181624 KRTAP23-1 EXON Missense_C7S exm1564964 21 31720911 [T/C] NM_181624 KRTAP23-1 EXON Missense_C5Y exm1564967 21 31744041 [T/G] NM_181621 KRTAP13-2 EXON Missense_P164Q exm1564968 21 31744062 [A/C] NM_181621 KRTAP13-2 EXON Missense_C157F exm1564988 21 31744287 [T/C] NM_181621 KRTAP13-2 EXON Missense_R82H exm1564995 21 31744365 [C/G] NM_181621 KRTAP13-2 EXON Missense_C56S exm1979251 21 31744473 [T/C] NM_181621 KRTAP13-2 EXON Missense_R20H exm1565003 21 31744474 [A/G] NM_181621 KRTAP13-2 EXON Missense_R20C exm1565005 21 31744495 [A/G] NM_181621 KRTAP13-2 EXON Missense_R13C exm1565014 21 31768483 [A/G] NM_181599 KRTAP13-1 EXON Missense_G27S exm1565015 21 31768494 [A/C] NM_181599 KRTAP13-1 EXON Nonsense_Y30X exm1565022 21 31768571 [G/C] NM_181599 KRTAP13-1 EXON Missense_C56S exm1565038 21 31768894 [A/C] NM_181599 KRTAP13-1 EXON Missense_P164T exm1565039 21 31768921 [T/C] NM_181599 KRTAP13-1 EXON Missense_X173R exm1565053 21 31797851 [T/A] NM_181622 KRTAP13-3 EXON Missense_F127Y exm1565072 21 31802603 [T/A] NM_181600 KRTAP13-4 EXON Missense_N4Y exm1565074 21 31802621 [T/A] NM_181600 KRTAP13-4 EXON Missense_F10I exm1565077 21 31802631 [A/G] NM_181600 KRTAP13-4 EXON Missense_R13H exm1979290 21 31802724 [A/G] NM_181600 KRTAP13-4 EXON Missense_R44H exm1565081 21 31802759 [T/C] NM_181600 KRTAP13-4 EXON Missense_W56R exm1565082 21 31802768 [A/G] NM_181600 KRTAP13-4 EXON Missense_A59T exm1565093 21 31802871 [A/G] NM_181600 KRTAP13-4 EXON Missense_R93H exm1565094 21 31802879 [A/G] NM_181600 KRTAP13-4 EXON Missense_G96S exm1565095 21 31802880 [A/G] NM_181600 KRTAP13-4 EXON Missense_G96D exm1565100 21 31802913 [A/G] NM_181600 KRTAP13-4 EXON Missense_N107S exm1565110 21 31803054 [A/G] NM_181600 KRTAP13-4 EXON Missense_R154H exm1565120 21 31812763 [A/G] NM_181623 KRTAP15-1 EXON Missense_T40A exm1565121 21 31812772 [A/C] NM_181623 KRTAP15-1 EXON Missense_L43M exm1565128 21 31812905 [A/G] NM_181623 KRTAP15-1 EXON Missense_R87H exm1565134 21 31813016 [T/C] NM_181623 KRTAP15-1 EXON Missense_P124L exm1565135 21 31813052 [A/G] NM_181623 KRTAP15-1 EXON Missense_C136Y exm1979320 21 31852582 [A/C] NM_181607 KRTAP19-1 EXON Missense_G19C exm1565166 21 31859574 [A/C] NM_181608 KRTAP19-2 EXON Missense_G32C exm1565168 21 31859583 [G/C] NM_181608 KRTAP19-2 EXON Missense_G29R exm1565177 21 31859655 [A/G] NM_181608 KRTAP19-2 EXON Missense_Y5H exm2234879 21 31864053 [A/G] NM_181609 KRTAP19-3 EXON Missense_Y75H exm2254569 21 31864090 [A/G] NM_181609 KRTAP19-3 EXON Synonymous_Y62Y exm1565188 21 31864098 [T/C] NM_181609 KRTAP19-3 EXON Missense_G60R exm1565191 21 31864263 [A/C] NM_181609 KRTAP19-3 EXON Missense_G5C exm1565197 21 31869268 [T/C] NM_181610 KRTAP19-4 EXON Missense_Y54C exm1565198 21 31869280 [T/C] NM_181610 KRTAP19-4 EXON Missense_R50H exm1565201 21 31869286 [T/C] NM_181610 KRTAP19-4 EXON Missense_Y48C exm1565202 21 31869296 [T/C] NM_181610 KRTAP19-4 EXON Missense_G45R exm1565209 21 31874201 [T/C] NM_181611 KRTAP19-5 EXON Missense_G70R exm1565211 21 31874224 [T/C] NM_181611 KRTAP19-5 EXON Missense_C62Y exm1565212 21 31874240 [T/C] NM_181611 KRTAP19-5 EXON Missense_S57G exm2276732 21 31874311 [A/C] NM_181611 KRTAP19-5 EXON Missense_R33L exm1565223 21 31874335 [T/C] NM_181611 KRTAP19-5 EXON Missense_Y25C exm1565231 21 31914013 [A/G] NM_181612 KRTAP19-6 EXON Missense_S47L exm1565232 21 31914019 [T/C] NM_181612 KRTAP19-6 EXON Missense_R45H exm1565243 21 31933451 [T/C] NM_181614 KRTAP19-7 EXON Missense_C53Y exm1565249 21 31933511 [T/C] NM_181614 KRTAP19-7 EXON Missense_R33H exm1565256 21 31933587 [A/G] NM_181614 KRTAP19-7 EXON Missense_Y8H exm1565264 21 31964797 [G/C] NM_181605 KRTAP6-3 EXON Missense_S11R exm1565274 21 31964870 [A/G] NM_181605 KRTAP6-3 EXON Missense_G36S exm1565276 21 31964889 [A/G] NM_181605 KRTAP6-3 EXON Missense_C42Y exm1565278 21 31964897 [A/G] NM_181605 KRTAP6-3 EXON Missense_G45R exm1565285 21 31964993 [T/G] NM_181605 KRTAP6-3 EXON Missense_D77Y exm1565288 21 31965059 [A/G] NM_181605 KRTAP6-3 EXON Missense_G99S exm1565305 21 31973516 [T/A] NM_181620 KRTAP22-1 EXON Missense_L26H exm1565306 21 31973525 [A/G] NM_181620 KRTAP22-1 EXON Missense_Y29C exm1565317 21 31986063 [T/C] NM_181602 KRTAP6-1 EXON Missense_R54H exm1565326 21 31986163 [T/C] NM_181602 KRTAP6-1 EXON Missense_G21R exm1565331 21 31988796 [A/T] NM_181615 KRTAP20-1 EXON Missense_Y8F exm1565333 21 31988847 [A/G] NM_181615 KRTAP20-1 EXON Missense_R25H exm1565334 21 31988853 [A/G] NM_181615 KRTAP20-1 EXON Missense_Y27C exm1565350 21 32090908 [T/C] NM_001164435 KRTAP21-3 EXON Missense_C57Y exm1565352 21 32090926 [T/A] NM_001164435 KRTAP21-3 EXON Missense_F51Y exm1565356 21 32119310 [A/G] NM_181617 KRTAP21-2 EXON Nonsense_R71X exm1565367 21 32119447 [T/C] NM_181617 KRTAP21-2 EXON Missense_Y25C exm1565371 21 32119495 [G/C] NM_181617 KRTAP21-2 EXON Missense_C9S exm1565388 21 32127596 [T/C] NM_181619 KRTAP21-1 EXON Missense_Y34C exm2254572 21 32127637 [A/G] NM_181619 KRTAP21-1 EXON Synonymous_Y20Y exm2272974 21 32170699 [T/G] exm2268385 21 32173677 [A/G] exm1565404 21 32185352 [A/G] NM_175857 KRTAP8-1 EXON Missense_Y63H exm1565413 21 32201835 [A/C] NM_181606 KRTAP7-1 EXON Missense_I61S exm1565414 21 32201866 [A/G] NM_181606 KRTAP7-1 EXON Missense_S51P exm1565418 21 32201951 [A/G] NM_181606 KRTAP7-1 EXON Synonymous_H22H exm-rs7283316 21 32216253 [A/G] exm1565423 21 32253365 [T/C] NM_175858 KRTAP11-1 EXON Missense_R160Q exm1565425 21 32253453 [T/A] NM_175858 KRTAP11-1 EXON Missense_C131S exm1565426 21 32253468 [T/C] NM_175858 KRTAP11-1 EXON Missense_G126S exm1565428 21 32253513 [T/A] NM_175858 KRTAP11-1 EXON Missense_C111S exm1565432 21 32253539 [T/C] NM_175858 KRTAP11-1 EXON Missense_R102Q exm1565437 21 32253611 [A/G] NM_175858 KRTAP11-1 EXON Missense_S78F exm1565438 21 32253629 [T/C] NM_175858 KRTAP11-1 EXON Missense_R72Q exm1565444 21 32253761 [A/G] NM_175858 KRTAP11-1 EXON Missense_T28M exm1565450 21 32410582 [T/C] NM_001099219 KRTAP19-8 EXON Missense_A61T exm1565451 21 32410597 [A/C] NM_001099219 KRTAP19-8 EXON Nonsense_G56X exm1565452 21 32410600 [T/C] NM_001099219 KRTAP19-8 EXON Missense_G55R exm1565458 21 32410695 [T/C] NM_001099219 KRTAP19-8 EXON Missense_Y23C exm-rs1475591 21 32440540 [T/C] exm-rs2833256 21 32444485 [A/G] exm2273007 21 32487354 [T/C] exm1565472 21 32492757 [T/C] NM_003253 TIAM1 EXON Missense_A1569T exm1565474 21 32492761 [G/C] NM_003253 TIAM1 EXON Missense_E1567D exm1565479 21 32492816 [T/C] NM_003253 TIAM1 EXON Missense_R1549H exm1565484 21 32492846 [T/C] NM_003253 TIAM1 EXON Missense_G1539D exm1565485 21 32492855 [T/C] NM_003253 TIAM1 EXON Missense_R1536Q exm1565488 21 32492871 [T/C] NM_003253 TIAM1 EXON Missense_T1531A exm1565495 21 32493056 [T/C] NM_003253 TIAM1 EXON Missense_K1469R exm1565497 21 32493062 [A/G] NM_003253 TIAM1 EXON Missense_P1467L exm1565503 21 32493120 [A/G] NM_003253 TIAM1 EXON Missense_R1448W exm1565516 21 32499453 [T/C] NM_003253 TIAM1 EXON Missense_V1355M exm1565537 21 32513673 [T/C] NM_003253 TIAM1 EXON Missense_A1209T exm1565540 21 32513810 [A/G] NM_003253 TIAM1 EXON Missense_T1163M exm2272975 21 32515535 [T/C] NM_003253 TIAM1 Silent exm1565552 21 32525073 [T/C] NM_003253 TIAM1 EXON Missense_V1083M exm1565560 21 32526647 [A/G] NM_003253 TIAM1 EXON Missense_A1030V exm1565562 21 32526668 [A/T] NM_003253 TIAM1 EXON Missense_D1023V exm1565565 21 32526707 [T/G] NM_003253 TIAM1 EXON Missense_H1010P exm1565566 21 32526716 [T/C] NM_003253 TIAM1 EXON Missense_R1007H exm1565571 21 32537308 [T/A] NM_003253 TIAM1 EXON Missense_S988T exm1565583 21 32554852 [T/A] NM_003253 TIAM1 EXON Missense_R925W exm1565584 21 32554888 [C/G] NM_003253 TIAM1 EXON Missense_D913H exm1565591 21 32559322 [T/C] NM_003253 TIAM1 EXON Missense_K886R exm1565592 21 32559367 [T/C] NM_003253 TIAM1 EXON Missense_R871Q exm1565596 21 32567583 [G/C] NM_003253 TIAM1 EXON Missense_Q844H exm1565602 21 32575261 [A/T] NM_003253 TIAM1 EXON Missense_L819H exm1565620 21 32589886 [A/G] NM_003253 TIAM1 EXON Missense_R709W exm1565621 21 32589903 [G/C] NM_003253 TIAM1 EXON Missense_S703C exm1565624 21 32589925 [T/G] NM_003253 TIAM1 EXON Missense_L696M exm1565627 21 32589978 [T/C] NM_003253 TIAM1 EXON Missense_R678H exm1565631 21 32595777 [A/G] NM_003253 TIAM1 EXON Missense_T647M exm1565640 21 32598133 [T/C] NM_003253 TIAM1 EXON Missense_K573R exm2254577 21 32598228 [A/G] NM_003253 TIAM1 EXON Synonymous_A541A exm1979613 21 32598228 [A/G] NM_003253 TIAM1 EXON Synonymous_A541A exm1565653 21 32617946 [T/C] NM_003253 TIAM1 EXON Missense_G481D exm1565656 21 32617970 [A/G] NM_003253 TIAM1 EXON Missense_T473M exm1565664 21 32624197 [T/G] NM_003253 TIAM1 EXON Missense_D424E exm1565675 21 32638331 [T/C] NM_003253 TIAM1 EXON Missense_T320A exm1565677 21 32638387 [A/G] NM_003253 TIAM1 EXON Missense_A301V exm1565687 21 32638549 [A/C] NM_003253 TIAM1 EXON Missense_G247V exm1565688 21 32638550 [T/C] NM_003253 TIAM1 EXON Missense_G247R exm1565692 21 32638642 [A/G] NM_003253 TIAM1 EXON Missense_T216M exm1565695 21 32638679 [T/C] NM_003253 TIAM1 EXON Missense_E204K exm1565700 21 32638801 [A/G] NM_003253 TIAM1 EXON Missense_A163V exm1565710 21 32638963 [A/G] NM_003253 TIAM1 EXON Missense_T109I exm2234890 21 32639002 [A/G] NM_003253 TIAM1 EXON Missense_M96T exm1565720 21 32639168 [A/G] NM_003253 TIAM1 EXON Missense_H41Y exm1565724 21 32639197 [T/C] NM_003253 TIAM1 EXON Missense_R31H exm1565727 21 32639222 [A/G] NM_003253 TIAM1 EXON Missense_R23C exm2264727 21 32968981 [A/C] exm1565758 21 33039603 [A/C] NM_000454 SOD1 EXON Missense_D91A exm2273586 21 33040893 [T/C] NM_000454 SOD1 EXON Silent exm1565768 21 33043815 [C/G] NM_020706,NM_001145445,NM_001145444 SCAF4,SCAF4,SCAF4 EXON Missense_S1114C,Missense_S1092C,Missense_S1099C exm1565771 21 33043879 [C/G] NM_020706,NM_001145445,NM_001145444 SCAF4,SCAF4,SCAF4 EXON Missense_V1093L,Missense_V1071L,Missense_V1078L exm1565777 21 33043982 [C/G] NM_020706,NM_001145445,NM_001145444 SCAF4,SCAF4,SCAF4 EXON Missense_D1058E,Missense_D1036E,Missense_D1043E exm1565779 21 33044071 [T/C] NM_020706,NM_001145445,NM_001145444 SCAF4,SCAF4,SCAF4 EXON Missense_D1029N,Missense_D1007N,Missense_D1014N exm1565783 21 33044137 [T/C] NM_020706,NM_001145445,NM_001145444 SCAF4,SCAF4,SCAF4 EXON Missense_N1007D,Missense_N985D,Missense_N992D exm1565830 21 33057464 [T/C] NM_020706,NM_001145445,NM_001145444 SCAF4,SCAF4,SCAF4 EXON Missense_A796T,Missense_A774T,Missense_A781T exm1565832 21 33057720 [T/G] NM_020706,NM_001145445,NM_001145444 SCAF4,SCAF4,SCAF4 EXON Missense_I763L,Missense_I763L,Missense_I748L exm1565854 21 33060747 [T/C] NM_020706,NM_001145445,NM_001145444 SCAF4,SCAF4,SCAF4 EXON Missense_N639S,Missense_N639S,Missense_N624S exm1565882 21 33066527 [A/T] NM_020706,NM_001145445,NM_001145444 SCAF4,SCAF4,SCAF4 EXON Missense_S438T,Missense_S438T,Missense_S423T exm1565885 21 33067165 [G/C] NM_020706,NM_001145445,NM_001145444 SCAF4,SCAF4,SCAF4 EXON Missense_Q399H,Missense_Q399H,Missense_Q384H exm1565886 21 33067293 [T/C] NM_020706,NM_001145445,NM_001145444 SCAF4,SCAF4,SCAF4 EXON Missense_V357I,Missense_V357I,Missense_V342I exm1565890 21 33068473 [A/G] NM_020706,NM_001145445,NM_001145444 SCAF4,SCAF4,SCAF4 EXON Missense_F341L,Missense_F341L,Missense_F326L exm1565905 21 33068981 [A/G] NM_020706,NM_001145445,NM_001145444 SCAF4,SCAF4,SCAF4 EXON Missense_T287M,Missense_T287M,Missense_T272M exm1565907 21 33068997 [T/C] NM_020706,NM_001145445,NM_001145444 SCAF4,SCAF4,SCAF4 EXON Missense_T282A,Missense_T282A,Missense_T267A exm-rs2833556 21 33285300 [A/G] NM_014586 HUNK Silent exm2254580 21 33296950 [T/C] NM_014586 HUNK EXON Synonymous_P144P exm1565944 21 33296987 [T/C] NM_014586 HUNK EXON Missense_R157W exm1565963 21 33331166 [T/C] NM_014586 HUNK EXON Missense_M253T exm1565984 21 33355876 [A/G] NM_014586 HUNK EXON Missense_R404Q exm1565987 21 33362464 [A/G] NM_014586 HUNK EXON Missense_R427Q exm1979752 21 33362489 [C/G] NM_014586 HUNK EXON Missense_Q435H exm1565994 21 33368191 [C/G] NM_014586 HUNK EXON Missense_M472I exm1565997 21 33368259 [A/G] NM_014586 HUNK EXON Missense_K495R exm1566006 21 33370956 [T/C] NM_014586 HUNK EXON Missense_P535L exm1566027 21 33371123 [T/C] NM_014586 HUNK EXON Missense_R591C exm1566029 21 33371135 [A/G] NM_014586 HUNK EXON Missense_S595G exm1566037 21 33371225 [A/G] NM_014586 HUNK EXON Missense_E625K exm1566038 21 33371240 [T/C] NM_014586 HUNK EXON Missense_P630S exm1566041 21 33371295 [T/C] NM_014586 HUNK EXON Missense_M648T exm1566045 21 33371442 [T/C] NM_014586 HUNK EXON Missense_L697P exm-rs2833607 21 33381040 [A/G] exm-rs2833610 21 33385186 [A/G] exm2272976 21 33468352 [T/C] exm1566058 21 33642808 [A/G] NM_018944 MIS18A EXON Missense_S145L exm1566064 21 33647140 [T/C] NM_018944 MIS18A Silent exm1566067 21 33647160 [A/G] NM_018944 MIS18A EXON Missense_R128C exm1566073 21 33651136 [T/C] NM_018944 MIS18A EXON Missense_M64V exm1566074 21 33651162 [A/G] NM_018944 MIS18A EXON Missense_M55T exm1566083 21 33651297 [G/C] NM_018944 MIS18A EXON Missense_S10T exm1566087 21 33671300 [A/C] NM_206898,NM_178817 MRAP,MRAP EXON Missense_N6K,Missense_N6K exm1566094 21 33678992 [A/G] NM_206898,NM_178817 MRAP,MRAP EXON Missense_V50M,Missense_V50M exm1566100 21 33684022 [C/G] NM_206898,NM_178817,NM_014825 MRAP,MRAP,URB1 EXON Silent,Missense_C78W,Silent exm1566102 21 33684035 [A/G] NM_206898,NM_178817,NM_014825 MRAP,MRAP,URB1 EXON Silent,Missense_G83S,Silent exm1566108 21 33684104 [C/G] NM_206898,NM_178817,NM_014825 MRAP,MRAP,URB1 EXON Silent,Missense_A106P,Silent exm1566116 21 33684177 [T/C] NM_206898,NM_178817,NM_014825 MRAP,MRAP,URB1 EXON Silent,Missense_T130I,Silent exm1566124 21 33684296 [A/T] NM_206898,NM_178817,NM_014825 MRAP,MRAP,URB1 EXON Silent,Missense_L170M,Silent exm1566129 21 33686912 [T/G] NM_206898,NM_014825 MRAP,URB1 EXON Missense_R86L,Silent exm1566131 21 33686957 [T/C] NM_206898,NM_014825 MRAP,URB1 EXON Missense_A101V,Silent exm1566151 21 33689199 [C/G] NM_014825 URB1 EXON Missense_P2071R exm1566156 21 33690119 [T/C] NM_014825 URB1 EXON Missense_V1968I exm1566160 21 33691527 [T/C] NM_014825 URB1 EXON Missense_R1931K exm1566161 21 33691546 [T/C] NM_014825 URB1 EXON Missense_V1925M exm1566165 21 33691710 [A/G] NM_014825 URB1 EXON Missense_P1870L exm2234897 21 33691723 [A/T] NM_014825 URB1 EXON Missense_F1866I exm1566172 21 33694224 [C/G] NM_014825 URB1 EXON Missense_V1791L exm1566178 21 33697576 [A/G] NM_014825 URB1 EXON Missense_S1695L exm-rs8134971 21 33700426 [T/C] NM_014825 URB1 Silent exm1566189 21 33709439 [A/G] NM_014825 URB1 EXON Missense_A1550V exm1979870 21 33709719 [T/C] NM_014825 URB1 EXON Missense_V1539I exm1566198 21 33711066 [A/G] NM_014825 URB1 EXON Missense_P1487L exm1566200 21 33711126 [A/G] NM_014825 URB1 EXON Missense_T1467M exm1566214 21 33719343 [C/G] NM_014825 URB1 EXON Missense_D1264H exm1566215 21 33719355 [T/C] NM_014825 URB1 EXON Missense_G1260S exm1566221 21 33719496 [T/C] NM_014825 URB1 EXON Missense_A1213T exm2234900 21 33719498 [A/G] NM_014825 URB1 EXON Missense_P1212L exm1566244 21 33720051 [T/G] NM_014825 URB1 EXON Missense_Q1028K exm1566247 21 33721642 [T/C] NM_014825 URB1 EXON Missense_V995M exm1566256 21 33723126 [C/G] NM_014825 URB1 EXON Missense_H907D exm1566263 21 33726265 [A/G] NM_014825 URB1 EXON Missense_L798P exm1566272 21 33727758 [A/G] NM_014825 URB1 EXON Synonymous_R702R exm1566273 21 33727760 [A/G] NM_014825 URB1 EXON Missense_R702C exm1566274 21 33727781 [T/C] NM_014825 URB1 EXON Missense_T695A exm2268386 21 33729129 [A/G] NM_014825 URB1 Silent exm1566286 21 33735605 [T/A] NM_014825 URB1 EXON Missense_S457T exm1566290 21 33738971 [T/C] NM_014825 URB1 EXON Missense_V431M exm1566293 21 33739048 [A/G] NM_014825 URB1 EXON Missense_P405L exm1566300 21 33744913 [T/C] NM_014825 URB1 EXON Missense_M302V exm1566305 21 33747784 [G/C] NM_014825 URB1 EXON Missense_P225A exm1566315 21 33755787 [A/G] NM_014825 URB1 EXON Missense_H171Y exm1566343 21 33829993 [A/G] NM_058187 EVA1C EXON Missense_S149N exm2268367 21 33832675 [A/G] NM_058187 EVA1C Silent exm1566475 21 33867408 [A/G] NM_058187 EVA1C EXON Missense_V236I exm1566476 21 33867447 [A/G] NM_058187 EVA1C EXON Missense_V249M exm1566497 21 33887228 [T/C] NM_058187 EVA1C EXON Missense_R352C exm1566502 21 33887315 [T/C] NM_058187 EVA1C EXON Missense_P381S exm1566503 21 33887355 [A/G] NM_058187 EVA1C EXON Missense_C394Y exm1566511 21 33887483 [A/G] NM_058187 EVA1C EXON Missense_M437V exm1566523 21 33949136 [A/G] NM_144659 TCP10L EXON Missense_A199V exm1566524 21 33949151 [T/C] NM_144659 TCP10L EXON Missense_R194H exm1566525 21 33949152 [A/G] NM_144659 TCP10L EXON Missense_R194C exm1566528 21 33949230 [T/C] NM_144659 TCP10L EXON Missense_M168V exm1566529 21 33951068 [T/C] NM_144659 TCP10L EXON Missense_H145R exm1566531 21 33951132 [A/G] NM_144659 TCP10L EXON Missense_P124S exm1566540 21 33954602 [A/G] NM_144659 TCP10L EXON Nonsense_R90X exm1566588 21 33976523 [A/G] NR_036552,NM_021254 C21orf59,C21orf59 EXON Silent,Missense_A149V exm1566590 21 33976547 [T/C] NR_036552,NM_021254 C21orf59,C21orf59 EXON Silent,Missense_D141G exm1566592 21 33976578 [T/C] NR_036552,NM_021254 C21orf59,C21orf59 EXON Silent,Missense_G131S exm1566601 21 33982163 [A/G] NR_036552,NM_021254 C21orf59,C21orf59 EXON Silent,Nonsense_R98X exm1566609 21 33982256 [T/C] NR_036552,NM_021254 C21orf59,C21orf59 EXON Silent,Missense_D67N exm1566611 21 33982286 [A/C] NR_036552,NM_021254 C21orf59,C21orf59 EXON Silent,Missense_F57V exm1566618 21 33984477 [T/G] NR_036552,NM_021254 C21orf59,C21orf59 EXON Silent,Missense_E26A exm1566625 21 34003354 [A/G] NM_003895,NM_203446,NM_001160302,NM_001160306 SYNJ1,SYNJ1,SYNJ1,SYNJ1 EXON Missense_T1597M,Silent,Silent,Missense_T1511M exm1566632 21 34003504 [A/G] NM_003895,NM_203446,NM_001160302,NM_001160306 SYNJ1,SYNJ1,SYNJ1,SYNJ1 EXON Missense_P1547L,Silent,Silent,Missense_P1461L exm1566642 21 34003786 [T/C] NM_003895,NM_203446,NM_001160302,NM_001160306 SYNJ1,SYNJ1,SYNJ1,SYNJ1 EXON Missense_G1453E,Silent,Silent,Missense_G1367E exm1566648 21 34003892 [T/C] NM_003895,NM_203446,NM_001160302,NM_001160306 SYNJ1,SYNJ1,SYNJ1,SYNJ1 EXON Missense_I1418V,Silent,Silent,Missense_I1332V exm1566653 21 34003930 [A/G] NM_003895,NM_203446,NM_001160302,NM_001160306 SYNJ1,SYNJ1,SYNJ1,SYNJ1 EXON Missense_V1405A,Silent,Silent,Missense_V1319A exm1566662 21 34004111 [T/C] NM_003895,NM_203446,NM_001160302,NM_001160306 SYNJ1,SYNJ1,SYNJ1,SYNJ1 EXON Missense_V1345I,Silent,Silent,Missense_V1259I exm1566674 21 34011387 [A/G] NM_003895,NM_203446,NM_001160302,NM_001160306 SYNJ1,SYNJ1,SYNJ1,SYNJ1 EXON Missense_P1288L,Missense_P1288L,Missense_P1233L,Missense_P1202L exm1566682 21 34012040 [T/C] NM_003895,NM_203446,NM_001160302,NM_001160306 SYNJ1,SYNJ1,SYNJ1,SYNJ1 EXON Missense_R1252Q,Missense_R1252Q,Missense_R1197Q,Missense_R1166Q exm1566684 21 34012083 [A/G] NM_003895,NM_203446,NM_001160302,NM_001160306 SYNJ1,SYNJ1,SYNJ1,SYNJ1 EXON Missense_P1238S,Missense_P1238S,Missense_P1183S,Missense_P1152S exm1566685 21 34012088 [A/G] NM_003895,NM_203446,NM_001160302,NM_001160306 SYNJ1,SYNJ1,SYNJ1,SYNJ1 EXON Missense_T1236M,Missense_T1236M,Missense_T1181M,Missense_T1150M exm1566687 21 34014214 [G/C] NM_003895,NM_203446,NM_001160302,NM_001160306 SYNJ1,SYNJ1,SYNJ1,SYNJ1 EXON Missense_A1233P,Missense_A1233P,Missense_A1178P,Missense_A1147P exm1566697 21 34015767 [T/C] NM_003895,NM_203446,NM_001160302,NM_001160306 SYNJ1,SYNJ1,SYNJ1,SYNJ1 EXON Missense_G1183D,Missense_G1183D,Silent,Silent exm1566708 21 34018745 [T/C] NM_003895,NM_203446,NM_001160302,NM_001160306 SYNJ1,SYNJ1,SYNJ1,SYNJ1 EXON Missense_S1108G,Missense_S1108G,Missense_S1069G,Missense_S1064G exm1566716 21 34022588 [A/C] NM_003895,NM_203446,NM_001160302,NM_001160306 SYNJ1,SYNJ1,SYNJ1,SYNJ1 EXON Missense_M1020I,Missense_M1020I,Missense_M981I,Missense_M976I exm1566728 21 34029195 [A/G] NM_003895,NM_203446,NM_001160302,NM_001160306 SYNJ1,SYNJ1,SYNJ1,SYNJ1 EXON Missense_I905T,Missense_I905T,Missense_I866T,Missense_I861T exm1566742 21 34037273 [A/C] NM_003895,NM_203446,NM_001160302,NM_001160306 SYNJ1,SYNJ1,SYNJ1,SYNJ1 EXON Missense_D791Y,Missense_D791Y,Missense_D752Y,Missense_D747Y exm1566747 21 34037356 [T/C] NM_003895,NM_203446,NM_001160302,NM_001160306 SYNJ1,SYNJ1,SYNJ1,SYNJ1 EXON Missense_Y763C,Missense_Y763C,Missense_Y724C,Missense_Y719C exm1566750 21 34038278 [A/G] NM_003895,NM_203446,NM_001160302,NM_001160306 SYNJ1,SYNJ1,SYNJ1,SYNJ1 EXON Missense_I746T,Missense_I746T,Missense_I707T,Missense_I702T exm1566759 21 34045675 [C/G] NM_003895,NM_203446,NM_001160302,NM_001160306 SYNJ1,SYNJ1,SYNJ1,SYNJ1 EXON Missense_K606N,Missense_K606N,Missense_K567N,Missense_K562N exm1566761 21 34045773 [T/C] NM_003895,NM_203446,NM_001160302,NM_001160306 SYNJ1,SYNJ1,SYNJ1,SYNJ1 EXON Missense_V574I,Missense_V574I,Missense_V535I,Missense_V530I exm1566764 21 34045830 [T/C] NM_003895,NM_203446,NM_001160302,NM_001160306 SYNJ1,SYNJ1,SYNJ1,SYNJ1 EXON Missense_V555I,Missense_V555I,Missense_V516I,Missense_V511I exm1566794 21 34058146 [T/C] NM_003895,NM_203446,NM_001160302,NM_001160306 SYNJ1,SYNJ1,SYNJ1,SYNJ1 EXON Missense_A383T,Missense_A383T,Missense_A344T,Missense_A344T exm1566796 21 34059352 [T/C] NM_003895,NM_203446,NM_001160302,NM_001160306 SYNJ1,SYNJ1,SYNJ1,SYNJ1 EXON Missense_K334R,Missense_K334R,Missense_K295R,Missense_K295R exm1566826 21 34099124 [T/G] NM_003895,NM_203446,NM_001160302,NM_001160306 SYNJ1,SYNJ1,SYNJ1,SYNJ1 EXON Missense_E67A,Missense_E67A,Missense_E28A,Missense_E28A exm1566848 21 34117134 [A/G] NR_027873,NM_016631,NM_013329 PAXBP1,PAXBP1,PAXBP1 EXON Silent,Missense_S720L,Missense_S720L exm1566860 21 34120893 [T/C] NR_027873,NM_016631,NM_013329 PAXBP1,PAXBP1,PAXBP1 EXON Silent,Missense_K614E,Missense_K614E exm1566867 21 34123251 [A/G] NR_027873,NM_016631,NM_013329 PAXBP1,PAXBP1,PAXBP1 EXON Silent,Missense_I567T,Missense_I567T exm1566936 21 34166190 [A/T] NR_024623,NR_024622,NM_019596,NM_001162496,NM_001162495 C21orf49,C21orf49,C21orf62,C21orf62,C21orf62 EXON Silent,Silent,Missense_F181L,Missense_F181L,Missense_F181L exm1566945 21 34166297 [T/C] NR_024623,NR_024622,NM_019596,NM_001162496,NM_001162495 C21orf49,C21orf49,C21orf62,C21orf62,C21orf62 EXON Silent,Silent,Missense_G146R,Missense_G146R,Missense_G146R exm1566949 21 34166395 [C/G] NR_024623,NR_024622,NM_019596,NM_001162496,NM_001162495 C21orf49,C21orf49,C21orf62,C21orf62,C21orf62 EXON Silent,Silent,Missense_P113R,Missense_P113R,Missense_P113R exm1566951 21 34166467 [A/G] NR_024623,NR_024622,NM_019596,NM_001162496,NM_001162495 C21orf49,C21orf49,C21orf62,C21orf62,C21orf62 EXON Silent,Silent,Missense_A89V,Missense_A89V,Missense_A89V exm1566953 21 34166479 [A/G] NR_024623,NR_024622,NM_019596,NM_001162496,NM_001162495 C21orf49,C21orf49,C21orf62,C21orf62,C21orf62 EXON Silent,Silent,Missense_T85M,Missense_T85M,Missense_T85M exm1566954 21 34166480 [T/C] NR_024623,NR_024622,NM_019596,NM_001162496,NM_001162495 C21orf49,C21orf49,C21orf62,C21orf62,C21orf62 EXON Silent,Silent,Missense_T85A,Missense_T85A,Missense_T85A exm1566956 21 34166525 [T/C] NR_024623,NR_024622,NM_019596,NM_001162496,NM_001162495 C21orf49,C21orf49,C21orf62,C21orf62,C21orf62 EXON Silent,Silent,Missense_A70T,Missense_A70T,Missense_A70T exm1566962 21 34166630 [T/C] NR_024623,NR_024622,NM_019596,NM_001162496,NM_001162495 C21orf49,C21orf49,C21orf62,C21orf62,C21orf62 EXON Silent,Silent,Missense_T35A,Missense_T35A,Missense_T35A exm2272977 21 34375854 [T/C] exm1566975 21 34399213 [T/C] NM_005806 OLIG2 EXON Missense_P15S exm1567019 21 34443252 [C/G] NM_138983 OLIG1 EXON Missense_L234V exm1567034 21 34614250 [T/C] NM_207584,NM_207585,NM_000874 IFNAR2,IFNAR2,IFNAR2 EXON Missense_F8S,Missense_F8S,Missense_F8S exm1567035 21 34614255 [T/G] NM_207584,NM_207585,NM_000874 IFNAR2,IFNAR2,IFNAR2 EXON Missense_F10V,Missense_F10V,Missense_F10V exm1567038 21 34615977 [A/G] NM_207584,NM_207585,NM_000874 IFNAR2,IFNAR2,IFNAR2 Silent,Silent,Silent exm1567039 21 34615987 [T/G] NM_207584,NM_207585,NM_000874 IFNAR2,IFNAR2,IFNAR2 EXON Missense_S22I,Missense_S22I,Missense_S22I exm1567049 21 34619126 [A/G] NM_207584,NM_207585,NM_000874 IFNAR2,IFNAR2,IFNAR2 EXON Missense_V109I,Missense_V109I,Missense_V109I exm1567058 21 34621124 [A/G] NM_207584,NM_207585,NM_000874 IFNAR2,IFNAR2,IFNAR2 EXON Missense_V169I,Missense_V169I,Missense_V169I exm1567059 21 34621138 [T/G] NM_207584,NM_207585,NM_000874 IFNAR2,IFNAR2,IFNAR2 EXON Missense_Q173H,Missense_Q173H,Missense_Q173H exm1567063 21 34624976 [A/G] NM_207584,NM_207585,NM_000874 IFNAR2,IFNAR2,IFNAR2 EXON Missense_E184K,Missense_E184K,Missense_E184K exm1567064 21 34625012 [A/G] NM_207584,NM_207585,NM_000874 IFNAR2,IFNAR2,IFNAR2 EXON Missense_I196V,Missense_I196V,Missense_I196V exm1567066 21 34625019 [A/G] NM_207584,NM_207585,NM_000874 IFNAR2,IFNAR2,IFNAR2 EXON Missense_D198G,Missense_D198G,Missense_D198G exm1567068 21 34625037 [C/G] NM_207584,NM_207585,NM_000874 IFNAR2,IFNAR2,IFNAR2 EXON Missense_T204R,Missense_T204R,Missense_T204R exm1567075 21 34632925 [C/G] NM_207584,NM_207585,NM_000874 IFNAR2,IFNAR2,IFNAR2 EXON Missense_G245R,Missense_G245R,Missense_G245R exm1567077 21 34633004 [A/G] NM_207584,NM_207585,NM_000874 IFNAR2,IFNAR2,IFNAR2 EXON Missense_C271Y,Missense_C271Y,Missense_C271Y exm1567083 21 34634991 [A/C] NM_207584,NM_207585,NM_000874 IFNAR2,IFNAR2,IFNAR2 EXON Nonsense_Y322X,Silent,Nonsense_Y322X exm1567094 21 34635228 [A/G] NM_207585 IFNAR2 EXON Missense_S324N exm1567102 21 34635364 [A/C] NM_207585 IFNAR2 EXON Missense_D369E exm1567105 21 34635433 [A/T] NM_207585 IFNAR2 EXON Missense_S392R exm1567126 21 34635731 [A/G] NM_207585 IFNAR2 EXON Missense_E492K exm1567127 21 34635801 [A/G] NM_207585 IFNAR2 EXON Missense_R515K exm1567132 21 34640722 [A/G] NM_000628 IL10RB EXON Missense_E25K exm1567137 21 34640780 [T/C] NM_000628 IL10RB EXON Missense_A44V exm1567138 21 34640788 [A/G] NM_000628 IL10RB EXON Missense_K47E exm1567139 21 34648942 [T/C] NM_000628 IL10RB EXON Missense_T72M exm1567141 21 34652113 [T/C] NM_000628 IL10RB EXON Missense_R130C exm1567143 21 34652167 [A/G] NM_000628 IL10RB EXON Missense_V148M exm1567146 21 34655448 [G/C] NM_000628 IL10RB EXON Missense_P183R exm1567150 21 34655545 [T/C] NM_000628 IL10RB EXON Synonymous_D215D exm1567158 21 34660489 [T/G] NM_000628 IL10RB EXON Missense_A243S exm1567161 21 34660525 [A/G] NM_000628 IL10RB EXON Missense_A255T exm1567183 21 34707868 [A/G] NM_000629 IFNAR1 EXON Missense_D39N exm1567191 21 34713388 [A/G] NM_000629 IFNAR1 EXON Missense_N95S exm1567192 21 34713412 [A/G] NM_000629 IFNAR1 EXON Missense_R103H exm1567193 21 34713474 [T/C] NM_000629 IFNAR1 EXON Missense_R124C exm1567206 21 34717606 [A/C] NM_000629 IFNAR1 EXON Missense_N243T exm1567208 21 34721397 [T/C] NM_000629 IFNAR1 EXON Synonymous_H263H exm1567212 21 34721474 [T/C] NM_000629 IFNAR1 EXON Missense_T289I exm1567214 21 34721524 [T/C] NM_000629 IFNAR1 EXON Missense_R306C exm1567215 21 34721527 [A/G] NM_000629 IFNAR1 EXON Missense_V307I exm1567217 21 34721724 [A/G] NM_000629 IFNAR1 EXON Missense_R340G exm1567221 21 34721782 [T/C] NM_000629 IFNAR1 EXON Missense_T359M exm1567222 21 34721817 [A/G] NM_000629 IFNAR1 EXON Missense_I371V exm1567232 21 34726019 [T/C] NM_000629 IFNAR1 EXON Missense_A457V exm1567257 21 34787294 [C/G] NM_005534 IFNGR2 EXON Missense_T58R exm1567258 21 34787312 [A/G] NM_005534 IFNGR2 EXON Missense_Q64R exm1567264 21 34793888 [T/C] NM_005534 IFNGR2 EXON Missense_A103V exm1567268 21 34799215 [T/C] NM_005534 IFNGR2 EXON Missense_I146T exm1567269 21 34799217 [A/G] NM_005534 IFNGR2 EXON Missense_E147K exm1567272 21 34799244 [A/C] NM_005534 IFNGR2 EXON Missense_I156L exm1567277 21 34799322 [A/G] NM_005534 IFNGR2 EXON Missense_K182E exm1567283 21 34804538 [A/G] NM_005534 IFNGR2 EXON Missense_R206G exm1567293 21 34805023 [T/A] NM_005534,NR_040016 IFNGR2,TMEM50B EXON Missense_S242T,Silent exm1567316 21 34828044 [T/C] NR_040016,NM_006134 TMEM50B,TMEM50B EXON Silent,Missense_I141V exm1567317 21 34828050 [T/C] NR_040016,NM_006134 TMEM50B,TMEM50B EXON Silent,Missense_A139T exm1567323 21 34837699 [T/C] NR_040016,NM_006134 TMEM50B,TMEM50B EXON Silent,Missense_N77S exm1567337 21 34860586 [T/C] NM_017833,NM_001040192 DNAJC28,DNAJC28 EXON Missense_G372D,Missense_G372D exm1567342 21 34860677 [T/C] NM_017833,NM_001040192 DNAJC28,DNAJC28 EXON Missense_E342K,Missense_E342K exm1567345 21 34860712 [T/G] NM_017833,NM_001040192 DNAJC28,DNAJC28 EXON Missense_A330D,Missense_A330D exm1567355 21 34860772 [T/C] NM_017833,NM_001040192 DNAJC28,DNAJC28 EXON Missense_R310Q,Missense_R310Q exm1567356 21 34860773 [A/G] NM_017833,NM_001040192 DNAJC28,DNAJC28 EXON Nonsense_R310X,Nonsense_R310X exm1567358 21 34860833 [T/G] NM_017833,NM_001040192 DNAJC28,DNAJC28 EXON Missense_K290Q,Missense_K290Q exm1567362 21 34860894 [T/G] NM_017833,NM_001040192 DNAJC28,DNAJC28 EXON Missense_Q269H,Missense_Q269H exm1567369 21 34861096 [T/C] NM_017833,NM_001040192 DNAJC28,DNAJC28 EXON Missense_R202H,Missense_R202H exm1567372 21 34861154 [T/C] NM_017833,NM_001040192 DNAJC28,DNAJC28 EXON Missense_V183I,Missense_V183I exm1567375 21 34861199 [A/C] NM_017833,NM_001040192 DNAJC28,DNAJC28 EXON Nonsense_E168X,Nonsense_E168X exm1567379 21 34861300 [T/C] NM_017833,NM_001040192 DNAJC28,DNAJC28 EXON Missense_R134Q,Missense_R134Q exm1980148 21 34861304 [A/G] NM_017833,NM_001040192 DNAJC28,DNAJC28 EXON Missense_H133Y,Missense_H133Y exm1567381 21 34861357 [T/C] NM_017833,NM_001040192 DNAJC28,DNAJC28 EXON Missense_S115N,Missense_S115N exm1567382 21 34861360 [T/G] NM_017833,NM_001040192 DNAJC28,DNAJC28 EXON Missense_Q114P,Missense_Q114P exm1567386 21 34861444 [A/G] NM_017833,NM_001040192 DNAJC28,DNAJC28 EXON Missense_T86I,Missense_T86I exm1567418 21 34876833 [T/C] NM_000819,NM_001136006,NM_001136005 GART,GART,GART EXON Synonymous_G909G,Synonymous_G909G,Synonymous_G909G exm1567419 21 34877903 [T/C] NM_000819,NM_001136006,NM_001136005 GART,GART,GART EXON Missense_R897K,Missense_R897K,Missense_R897K exm1567420 21 34877958 [T/C] NM_000819,NM_001136006,NM_001136005 GART,GART,GART EXON Missense_D879N,Missense_D879N,Missense_D879N exm1567431 21 34882131 [T/G] NM_000819,NM_001136006,NM_001136005 GART,GART,GART EXON Missense_E804A,Missense_E804A,Missense_E804A exm1567435 21 34882188 [A/C] NM_000819,NM_001136006,NM_001136005 GART,GART,GART EXON Missense_M785R,Missense_M785R,Missense_M785R exm1567436 21 34882197 [A/G] NM_000819,NM_001136006,NM_001136005 GART,GART,GART EXON Missense_I782T,Missense_I782T,Missense_I782T exm1567437 21 34882218 [T/C] NM_000819,NM_001136006,NM_001136005 GART,GART,GART EXON Missense_R775H,Missense_R775H,Missense_R775H exm2272978 21 34888621 [T/C] NM_000819,NM_001136006,NM_001136005 GART,GART,GART Silent,Silent,Silent exm1567453 21 34889665 [T/C] NM_000819,NM_001136006,NM_001136005 GART,GART,GART EXON Synonymous_L651L,Synonymous_L651L,Synonymous_L651L exm1567455 21 34889697 [G/C] NM_000819,NM_001136006,NM_001136005 GART,GART,GART EXON Missense_P641A,Missense_P641A,Missense_P641A exm1567457 21 34889723 [A/G] NM_000819,NM_001136006,NM_001136005 GART,GART,GART EXON Missense_A632V,Missense_A632V,Missense_A632V exm1567458 21 34889727 [T/C] NM_000819,NM_001136006,NM_001136005 GART,GART,GART EXON Missense_V631M,Missense_V631M,Missense_V631M exm1567462 21 34889834 [T/C] NM_000819,NM_001136006,NM_001136005 GART,GART,GART EXON Missense_R595Q,Missense_R595Q,Missense_R595Q exm1567464 21 34889888 [A/G] NM_000819,NM_001136006,NM_001136005 GART,GART,GART EXON Missense_M577T,Missense_M577T,Missense_M577T exm1567470 21 34892724 [A/G] NM_000819,NM_001136006,NM_001136005 GART,GART,GART EXON Missense_A550V,Missense_A550V,Missense_A550V exm1567473 21 34892844 [T/C] NM_000819,NM_001136006,NM_001136005 GART,GART,GART EXON Missense_D510G,Missense_D510G,Missense_D510G exm1567490 21 34897113 [T/C] NM_000819,NM_001136006,NM_001136005,NM_175085 GART,GART,GART,GART EXON Missense_V421I,Missense_V421I,Missense_V421I,Missense_V421I exm1567493 21 34897194 [C/G] NM_000819,NM_001136006,NM_001136005,NM_175085 GART,GART,GART,GART EXON Missense_E394Q,Missense_E394Q,Missense_E394Q,Missense_E394Q exm1567497 21 34897281 [G/C] NM_000819,NM_001136006,NM_001136005,NM_175085 GART,GART,GART,GART EXON Missense_L365V,Missense_L365V,Missense_L365V,Missense_L365V exm1567521 21 34903861 [A/C] NM_000819,NM_001136006,NM_001136005,NM_175085 GART,GART,GART,GART EXON Missense_E177D,Missense_E177D,Missense_E177D,Missense_E177D exm1567526 21 34904697 [C/G] NM_000819,NM_001136006,NM_001136005,NM_175085 GART,GART,GART,GART EXON Missense_A161G,Missense_A161G,Missense_A161G,Missense_A161G exm1567536 21 34907023 [A/C] NM_000819,NM_001136006,NM_001136005,NM_175085 GART,GART,GART,GART EXON Missense_C93F,Missense_C93F,Missense_C93F,Missense_C93F exm1567537 21 34907024 [T/A] NM_000819,NM_001136006,NM_001136005,NM_175085 GART,GART,GART,GART EXON Missense_C93S,Missense_C93S,Missense_C93S,Missense_C93S exm1567544 21 34911575 [A/G] NM_000819,NM_001136006,NM_001136005,NM_175085 GART,GART,GART,GART EXON Missense_T16M,Missense_T16M,Missense_T16M,Missense_T16M exm1567562 21 34921869 [A/G] NM_138927,NM_032195 SON,SON EXON Missense_H111R,Missense_H111R exm1567569 21 34922034 [T/C] NM_138927,NM_032195 SON,SON EXON Missense_A166V,Missense_A166V exm1567571 21 34922076 [A/G] NM_138927,NM_032195 SON,SON EXON Missense_N180S,Missense_N180S exm2276733 21 34922117 [A/G] NM_138927,NM_032195 SON,SON EXON Missense_M194V,Missense_M194V exm1567576 21 34922171 [T/G] NM_138927,NM_032195 SON,SON EXON Missense_A212S,Missense_A212S exm1567587 21 34922515 [A/G] NM_138927,NM_032195 SON,SON EXON Missense_M326I,Missense_M326I exm1567588 21 34922544 [T/C] NM_138927,NM_032195 SON,SON EXON Missense_A336V,Missense_A336V exm1567596 21 34922639 [A/G] NM_138927,NM_032195 SON,SON EXON Missense_T368A,Missense_T368A exm1567599 21 34922664 [T/C] NM_138927,NM_032195 SON,SON EXON Missense_S376L,Missense_S376L exm1567615 21 34922804 [T/C] NM_138927,NM_032195 SON,SON EXON Missense_P423S,Missense_P423S exm1567633 21 34923207 [T/C] NM_138927,NM_032195 SON,SON EXON Missense_A557V,Missense_A557V exm1980221 21 34923219 [T/C] NM_138927,NM_032195 SON,SON EXON Missense_P561L,Missense_P561L exm1980224 21 34923266 [T/C] NM_138927,NM_032195 SON,SON EXON Missense_S577P,Missense_S577P exm1567639 21 34923291 [T/C] NM_138927,NM_032195 SON,SON EXON Missense_S585L,Missense_S585L exm1567657 21 34923617 [A/G] NM_138927,NM_032195 SON,SON EXON Missense_T694A,Missense_T694A exm1567663 21 34923747 [T/C] NM_138927,NM_032195 SON,SON EXON Missense_A737V,Missense_A737V exm1567695 21 34924118 [A/G] NM_138927,NM_032195 SON,SON EXON Missense_M861V,Missense_M861V exm1567698 21 34924145 [A/G] NM_138927,NM_032195 SON,SON EXON Missense_T870A,Missense_T870A exm1567699 21 34924148 [A/G] NM_138927,NM_032195 SON,SON EXON Missense_M871V,Missense_M871V exm1567700 21 34924167 [G/C] NM_138927,NM_032195 SON,SON EXON Missense_A877G,Missense_A877G exm1567713 21 34924455 [T/C] NM_138927,NM_032195 SON,SON EXON Missense_A973V,Missense_A973V exm1567716 21 34924550 [T/G] NM_138927,NM_032195 SON,SON EXON Missense_A1005S,Missense_A1005S exm1567718 21 34924589 [T/A] NM_138927,NM_032195 SON,SON EXON Missense_M1018L,Missense_M1018L exm1567721 21 34924631 [T/A] NM_138927,NM_032195 SON,SON EXON Missense_S1032T,Missense_S1032T exm1567728 21 34924793 [A/G] NM_138927,NM_032195 SON,SON EXON Missense_M1086V,Missense_M1086V exm1567732 21 34924844 [A/G] NM_138927,NM_032195 SON,SON EXON Missense_M1103V,Missense_M1103V exm1567734 21 34924863 [T/C] NM_138927,NM_032195 SON,SON EXON Missense_A1109V,Missense_A1109V exm1567742 21 34925036 [A/G] NM_138927,NM_032195 SON,SON EXON Missense_M1167V,Missense_M1167V exm2234945 21 34925133 [T/C] NM_138927,NM_032195 SON,SON EXON Missense_V1199A,Missense_V1199A exm1567748 21 34925145 [T/C] NM_138927,NM_032195 SON,SON EXON Missense_P1203L,Missense_P1203L exm1980243 21 34925177 [T/C] NM_138927,NM_032195 SON,SON EXON Missense_P1214S,Missense_P1214S exm1567751 21 34925199 [T/C] NM_138927,NM_032195 SON,SON EXON Missense_S1221L,Missense_S1221L exm1567759 21 34925304 [A/G] NM_138927,NM_032195 SON,SON EXON Missense_E1256G,Missense_E1256G exm1567769 21 34925445 [T/C] NM_138927,NM_032195 SON,SON EXON Missense_P1303L,Missense_P1303L exm1567772 21 34925564 [A/C] NM_138927,NM_032195 SON,SON EXON Missense_I1343L,Missense_I1343L exm1567783 21 34925669 [T/C] NM_138927,NM_032195 SON,SON EXON Missense_S1378P,Missense_S1378P exm1567790 21 34925742 [A/G] NM_138927,NM_032195 SON,SON EXON Missense_Y1402C,Missense_Y1402C exm1567791 21 34925753 [C/G] NM_138927,NM_032195 SON,SON EXON Missense_P1406A,Missense_P1406A exm1567792 21 34925765 [A/G] NM_138927,NM_032195 SON,SON EXON Missense_V1410I,Missense_V1410I exm1567797 21 34925936 [A/G] NM_138927,NM_032195 SON,SON EXON Missense_I1467V,Missense_I1467V exm1567800 21 34926000 [A/G] NM_138927,NM_032195 SON,SON EXON Missense_N1488S,Missense_N1488S exm1567802 21 34926043 [A/G] NM_138927,NM_032195 SON,SON EXON Missense_M1502I,Missense_M1502I exm1567807 21 34926120 [A/G] NM_138927,NM_032195 SON,SON EXON Missense_H1528R,Missense_H1528R exm1567815 21 34926260 [T/C] NM_138927,NM_032195 SON,SON EXON Missense_R1575C,Missense_R1575C exm1567833 21 34926737 [A/G] NM_138927,NM_032195 SON,SON EXON Missense_V1734M,Missense_V1734M exm1980259 21 34926818 [A/G] NM_138927,NM_032195 SON,SON EXON Missense_V1761I,Missense_V1761I exm1567848 21 34927047 [A/G] NM_138927,NM_032195 SON,SON EXON Missense_R1837H,Missense_R1837H exm1567854 21 34927157 [A/G] NM_138927,NM_032195 SON,SON EXON Missense_S1874G,Missense_S1874G exm2254590 21 34945721 [T/C] NM_138927 SON EXON Synonymous_N2331N exm1567918 21 34948686 [A/G] NM_138927 SON EXON Missense_A2413T exm1567919 21 34948687 [C/G] NM_138927 SON EXON Missense_A2413G exm2273587 21 34950609 [A/G] NM_017613 DONSON EXON Silent exm1567934 21 34950699 [T/C] NM_017613 DONSON EXON Missense_E539K exm1567935 21 34950728 [A/G] NM_017613 DONSON EXON Missense_T529I exm1567937 21 34951673 [C/G] NM_017613 DONSON EXON Missense_D516H exm2275168 21 34951753 [T/C] NM_017613 DONSON EXON Missense_K489R exm1567942 21 34951808 [T/C] NM_017613 DONSON EXON Missense_E471K exm1980306 21 34951831 [A/C] NM_017613 DONSON EXON Missense_G463V exm1567964 21 34955839 [T/C] NM_017613 DONSON EXON Missense_I307V exm1567966 21 34955866 [A/C] NM_017613 DONSON EXON Missense_A298S exm1567968 21 34955922 [A/G] NM_017613 DONSON EXON Missense_P279L exm1567972 21 34956929 [T/C] NM_017613 DONSON EXON Missense_D251G exm1567973 21 34956964 [T/G] NM_017613 DONSON EXON Missense_R239S exm1567977 21 34958343 [A/C] NM_017613 DONSON EXON Missense_A183S exm1567989 21 34960634 [C/G] NM_017613 DONSON EXON Missense_P105R exm1567997 21 34963513 [T/C] NM_145858 CRYZL1 EXON Missense_C302Y exm1568004 21 34968105 [T/C] NM_145858 CRYZL1 EXON Missense_G279E exm1568007 21 34969609 [A/C] NM_145858 CRYZL1 EXON Missense_V259L exm1980348 21 34975816 [A/G] NM_145858 CRYZL1 EXON Missense_T120M exm1568038 21 34994303 [T/A] NM_145858 CRYZL1 EXON Missense_D72E exm1568042 21 34997018 [T/C] NM_145858 CRYZL1 EXON Missense_A39T exm1980415 21 35147404 [G/C] NM_003024,NM_001001132 ITSN1,ITSN1 EXON Missense_Q530E,Missense_Q530E exm1568104 21 35153814 [A/G] NM_003024,NM_001001132 ITSN1,ITSN1 EXON Missense_N549S,Missense_N549S exm1980419 21 35154307 [T/G] NM_003024,NM_001001132 ITSN1,ITSN1 EXON Missense_L565R,Missense_L565R exm1568121 21 35172139 [A/C] NM_003024,NM_001001132 ITSN1,ITSN1 EXON Missense_Q737P,Missense_Q737P exm1980444 21 35183493 [T/C] NM_003024,NM_001001132 ITSN1,ITSN1 EXON Missense_T845M,Missense_T845M exm1568140 21 35186272 [A/G] NM_003024,NM_001001132 ITSN1,ITSN1 EXON Missense_A875T,Missense_A875T exm1568141 21 35186290 [A/G] NM_003024,NM_001001132 ITSN1,ITSN1 EXON Missense_V881I,Missense_V881I exm1568145 21 35186357 [T/C] NM_003024,NM_001001132 ITSN1,ITSN1 EXON Missense_P903L,Missense_P903L exm1568154 21 35191586 [A/G] NM_003024,NM_001001132 ITSN1,ITSN1 EXON Missense_R992Q,Missense_R992Q exm1568207 21 35239562 [A/G] NM_003024 ITSN1 EXON Missense_K1367R exm1568254 21 35275907 [T/C] NM_001697 ATP5O EXON Missense_I189V exm1568256 21 35275914 [A/C] NM_001697 ATP5O EXON Missense_I186M exm1568257 21 35275931 [T/C] NM_001697 ATP5O EXON Missense_I181V exm2234956 21 35276274 [C/G] NM_001697 ATP5O EXON Missense_L165V exm1568275 21 35281400 [A/G] NM_001697 ATP5O EXON Missense_T105I exm1568277 21 35281421 [T/C] NM_001697 ATP5O EXON Missense_K98R exm1568283 21 35281472 [A/G] NM_001697 ATP5O EXON Missense_P81L exm1568285 21 35281496 [T/C] NM_001697 ATP5O EXON Missense_K73R exm1980549 21 35286801 [C/G] NM_001697 ATP5O EXON Missense_R14G exm1568297 21 35288037 [A/G] NM_001697 ATP5O EXON Missense_R11W exm2268368 21 35359935 [A/G] exm1568319 21 35467645 [A/G] NM_032476,NM_006933 MRPS6,SLC5A3 EXON Silent,Missense_T50A exm1568341 21 35468399 [T/C] NM_032476,NM_006933 MRPS6,SLC5A3 EXON Silent,Missense_M301T exm1568347 21 35468568 [T/G] NM_032476,NM_006933 MRPS6,SLC5A3 EXON Silent,Missense_K357N exm1568349 21 35468605 [A/G] NM_032476,NM_006933 MRPS6,SLC5A3 EXON Silent,Missense_V370M exm1568361 21 35468912 [A/G] NM_032476,NM_006933 MRPS6,SLC5A3 EXON Silent,Missense_Y472C exm1568367 21 35469168 [C/G] NM_032476,NM_006933 MRPS6,SLC5A3 EXON Silent,Missense_N557K exm1568368 21 35469193 [A/C] NM_032476,NM_006933 MRPS6,SLC5A3 EXON Silent,Missense_Q566K exm1568370 21 35469209 [A/G] NM_032476,NM_006933 MRPS6,SLC5A3 EXON Silent,Missense_S571N exm1568379 21 35469440 [T/C] NM_032476,NM_006933 MRPS6,SLC5A3 EXON Silent,Missense_T648M exm1568390 21 35497732 [T/C] NM_032476 MRPS6 EXON Missense_A46V exm1568398 21 35514749 [T/A] NM_032476 MRPS6 EXON Missense_E76V exm1568399 21 35514772 [T/C] NM_032476 MRPS6 EXON Nonsense_R84X exm1568401 21 35514862 [A/G] NM_032476 MRPS6 EXON Missense_A114T exm2234960 21 35515333 [T/C] NM_032476 MRPS6 EXON Silent exm-rs9982601 21 35599128 [T/C] exm-rs9978142 21 35652239 [T/A] exm-rs2834442 21 35690786 [T/A] exm1568406 21 35742802 [C/G] NM_172201 KCNE2 EXON Missense_Q9E exm1568408 21 35742817 [A/G] NM_172201 KCNE2 EXON Missense_V14I exm1568418 21 35742938 [T/C] NM_172201 KCNE2 EXON Missense_M54T exm1568419 21 35742947 [T/C] NM_172201 KCNE2 EXON Missense_I57T exm1568438 21 35757846 [T/C] NM_058182 SMIM11 EXON Missense_A28V exm1980683 21 35757881 [A/G] NM_058182 SMIM11 EXON Missense_A40T exm1568441 21 35757894 [A/C] NM_058182 SMIM11 EXON Missense_K44T exm1568442 21 35757915 [A/G] NM_058182 SMIM11 EXON Missense_K51R exm2272979 21 35820324 [T/C] NM_001270405,NM_001270404,NM_001127669,NM_001270402,NM_000219,NM_001127670,NM_001127668,NM_001270403 KCNE1,KCNE1,KCNE1,KCNE1,KCNE1,KCNE1,KCNE1,KCNE1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm1568462 21 35821608 [T/C] NM_001270405,NM_001270404,NM_001127669,NM_001270402,NM_000219,NM_001127670,NM_001127668,NM_001270403 KCNE1,KCNE1,KCNE1,KCNE1,KCNE1,KCNE1,KCNE1,KCNE1 EXON Missense_V109I,Missense_V109I,Missense_V109I,Missense_V109I,Missense_V109I,Missense_V109I,Missense_V109I,Missense_V109I exm1568483 21 35821791 [A/G] NM_001270405,NM_001270404,NM_001127669,NM_001270402,NM_000219,NM_001127670,NM_001127668,NM_001270403 KCNE1,KCNE1,KCNE1,KCNE1,KCNE1,KCNE1,KCNE1,KCNE1 EXON Missense_L48F,Missense_L48F,Missense_L48F,Missense_L48F,Missense_L48F,Missense_L48F,Missense_L48F,Missense_L48F exm1568485 21 35821821 [T/C] NM_001270405,NM_001270404,NM_001127669,NM_001270402,NM_000219,NM_001127670,NM_001127668,NM_001270403 KCNE1,KCNE1,KCNE1,KCNE1,KCNE1,KCNE1,KCNE1,KCNE1 EXON Missense_S38G,Missense_S38G,Missense_S38G,Missense_S38G,Missense_S38G,Missense_S38G,Missense_S38G,Missense_S38G exm1568489 21 35821826 [T/C] NM_001270405,NM_001270404,NM_001127669,NM_001270402,NM_000219,NM_001127670,NM_001127668,NM_001270403 KCNE1,KCNE1,KCNE1,KCNE1,KCNE1,KCNE1,KCNE1,KCNE1 EXON Missense_R36H,Missense_R36H,Missense_R36H,Missense_R36H,Missense_R36H,Missense_R36H,Missense_R36H,Missense_R36H exm-rs727957 21 35880072 [T/G] NM_001270404,NM_001270402,NM_000219,NM_001270403 KCNE1,KCNE1,KCNE1,KCNE1 Silent,Silent,Silent,Silent exm1568510 21 35893925 [A/G] NM_004414,NM_203418,NM_203417 RCAN1,RCAN1,RCAN1 EXON Missense_P153L,Missense_P98L,Missense_P18L exm1568511 21 35893935 [A/G] NM_004414,NM_203418,NM_203417 RCAN1,RCAN1,RCAN1 EXON Missense_H150Y,Missense_H95Y,Missense_H15Y exm1568512 21 35893950 [A/G] NM_004414,NM_203418,NM_203417 RCAN1,RCAN1,RCAN1 EXON Missense_H145Y,Missense_H90Y,Missense_H10Y exm1568515 21 35895879 [T/C] NM_004414,NM_203418,NM_203417 RCAN1,RCAN1,RCAN1 EXON Missense_K128E,Missense_K73E,Silent exm1568598 21 36079653 [A/G] NM_053277 CLIC6 EXON Missense_V484I exm1568605 21 36080276 [A/G] NM_053277 CLIC6 EXON Missense_T507A exm1568612 21 36081024 [T/C] NM_053277 CLIC6 EXON Missense_P546L exm1568625 21 36081793 [T/C] NM_053277 CLIC6 EXON Missense_T619M exm1568628 21 36088638 [A/G] NM_053277 CLIC6 EXON Missense_R640K exm1568629 21 36088664 [A/G] NM_053277 CLIC6 EXON Missense_T649A exm1568630 21 36088670 [A/G] NM_053277 CLIC6 EXON Missense_I651V exm1980824 21 36088759 [A/T] NM_053277 CLIC6 EXON Missense_D680E exm2254596 21 36159252 [T/G] exm2234962 21 36171613 [A/C] NM_001001890,NM_001754 RUNX1,RUNX1 EXON Missense_S291A,Missense_S318A exm2273008 21 36245198 [T/C] NM_001001890,NM_001754,NM_001122607 RUNX1,RUNX1,RUNX1 Silent,Silent,Silent exm1568680 21 36259324 [A/G] NM_001001890,NM_001754,NM_001122607 RUNX1,RUNX1,RUNX1 EXON Missense_L29S,Missense_L56S,Missense_L29S exm1568681 21 36259336 [T/A] NM_001001890,NM_001754,NM_001122607 RUNX1,RUNX1,RUNX1 EXON Missense_M25K,Missense_M52K,Missense_M25K exm-rs2014300 21 36357861 [A/G] NM_001754 RUNX1 Silent exm2268389 21 36527799 [A/G] exm2264728 21 36646280 [A/C] exm2272981 21 36935896 [T/C] NR_073512 LOC100506403 Silent exm1568708 21 37408491 [G/C] NM_017438,NR_040087,NR_040086 SETD4,SETD4,SETD4 EXON Missense_S416C,Silent,Silent exm1568710 21 37408526 [T/A] NM_017438,NR_040087,NR_040086 SETD4,SETD4,SETD4 EXON Missense_K404N,Silent,Silent exm1568711 21 37408530 [T/G] NM_017438,NR_040087,NR_040086 SETD4,SETD4,SETD4 EXON Missense_E403A,Silent,Silent exm1568712 21 37410477 [T/C] NM_017438,NR_040087,NR_040086 SETD4,SETD4,SETD4 EXON Missense_I387V,Silent,Silent exm1568713 21 37410480 [T/A] NM_017438,NR_040087,NR_040086 SETD4,SETD4,SETD4 EXON Missense_F386I,Silent,Silent exm1568724 21 37416145 [T/C] NM_017438,NR_040087,NR_040086,NM_001007259,NR_040088 SETD4,SETD4,SETD4,SETD4,SETD4 EXON Missense_R279Q,Silent,Silent,Missense_R279Q,Silent exm1568728 21 37416208 [A/G] NM_017438,NR_040087,NR_040086,NM_001007259,NR_040088 SETD4,SETD4,SETD4,SETD4,SETD4 EXON Missense_T258M,Silent,Silent,Missense_T258M,Silent exm1568731 21 37416230 [T/C] NM_017438,NR_040087,NR_040086,NM_001007259,NR_040088 SETD4,SETD4,SETD4,SETD4,SETD4 EXON Missense_T251A,Silent,Silent,Missense_T251A,Silent exm1568744 21 37417992 [T/C] NM_017438,NR_040087,NR_040086,NM_001007259,NR_040088 SETD4,SETD4,SETD4,SETD4,SETD4 EXON Missense_N205S,Silent,Silent,Missense_N205S,Silent exm1568747 21 37418008 [A/C] NM_017438,NR_040087,NR_040086,NM_001007259,NR_040088 SETD4,SETD4,SETD4,SETD4,SETD4 EXON Missense_A200S,Silent,Silent,Missense_A200S,Silent exm1568761 21 37418301 [A/G] NM_017438,NR_040087,NR_040086,NM_001007259,NR_040088 SETD4,SETD4,SETD4,SETD4,SETD4 EXON Missense_P102L,Silent,Silent,Missense_P102L,Silent exm1568771 21 37429436 [T/C] NM_017438,NR_040087,NR_040086,NM_001007259,NR_040088 SETD4,SETD4,SETD4,SETD4,SETD4 EXON Missense_D47G,Silent,Silent,Missense_D47G,Silent exm1568787 21 37442634 [T/G] NR_040084,NM_001757 LOC100133286,CBR1 EXON Silent,Missense_R74L exm1568790 21 37442658 [A/G] NR_040084,NM_001757 LOC100133286,CBR1 EXON Silent,Missense_G82E exm1568794 21 37443293 [T/A] NR_040084,NM_001757 LOC100133286,CBR1 EXON Silent,Missense_K112I exm1568798 21 37443349 [T/C] NR_040084,NM_001757 LOC100133286,CBR1 EXON Silent,Missense_P131S exm1568811 21 37444929 [A/G] NR_040084,NM_001757 LOC100133286,CBR1 EXON Silent,Missense_G195R exm1568812 21 37444936 [T/C] NR_040084,NM_001757 LOC100133286,CBR1 EXON Silent,Missense_T197M exm2254605 21 37444937 [A/G] NR_040084,NM_001757 LOC100133286,CBR1 EXON Silent,Synonymous_T197T exm2234964 21 37445088 [A/G] NR_040084,NM_001757 LOC100133286,CBR1 EXON Silent,Missense_A248T exm2268369 21 37450210 [A/G] NR_040084 LOC100133286 Silent exm1568831 21 37507547 [T/G] NR_038893,NR_038892,NM_001236 CBR3-AS1,CBR3-AS1,CBR3 EXON Silent,Silent,Missense_L19F exm1568841 21 37510186 [T/C] NR_038893,NR_038892,NM_001236 CBR3-AS1,CBR3-AS1,CBR3 EXON Silent,Silent,Missense_T118I exm1568844 21 37510224 [T/C] NR_038893,NR_038892,NM_001236 CBR3-AS1,CBR3-AS1,CBR3 EXON Silent,Silent,Missense_P131S exm1981131 21 37518523 [A/G] NR_038893,NR_038892,NM_001236,NR_038894 CBR3-AS1,CBR3-AS1,CBR3,CBR3-AS1 EXON Silent,Silent,Missense_V183M,Silent exm1568870 21 37518590 [C/G] NR_038893,NR_038892,NM_001236,NR_038894 CBR3-AS1,CBR3-AS1,CBR3,CBR3-AS1 EXON Silent,Silent,Missense_S205W,Silent exm1568876 21 37518679 [T/A] NR_038893,NR_038892,NM_001236,NR_038894 CBR3-AS1,CBR3-AS1,CBR3,CBR3-AS1 EXON Silent,Silent,Missense_M235L,Silent exm1568877 21 37518706 [A/G] NR_038893,NR_038892,NM_001236,NR_038894 CBR3-AS1,CBR3-AS1,CBR3,CBR3-AS1 EXON Silent,Silent,Missense_V244M,Silent exm1568878 21 37518760 [A/G] NR_038893,NR_038892,NM_001236,NR_038894 CBR3-AS1,CBR3-AS1,CBR3,CBR3-AS1 EXON Silent,Silent,Missense_T262A,Silent exm1568884 21 37537097 [A/C] NM_005128 DOPEY2 EXON Missense_E22D exm1568886 21 37537164 [T/A] NM_005128 DOPEY2 EXON Missense_N45Y exm1568900 21 37572667 [T/C] NM_005128 DOPEY2 EXON Missense_S120L exm1568910 21 37581071 [A/G] NM_005128 DOPEY2 EXON Missense_A184T exm1568911 21 37581084 [A/G] NM_005128 DOPEY2 EXON Missense_S188N exm1568912 21 37581086 [A/G] NM_005128 DOPEY2 EXON Missense_V189I exm1568926 21 37584306 [A/C] NM_005128 DOPEY2 EXON Missense_S272Y exm1568928 21 37584314 [A/G] NM_005128 DOPEY2 EXON Missense_V275M exm1568939 21 37586746 [A/G] NM_005128 DOPEY2 EXON Missense_A341T exm1568949 21 37597876 [T/C] NM_005128 DOPEY2 EXON Missense_R462C exm1981172 21 37597909 [G/C] NM_005128 DOPEY2 EXON Missense_P473A exm1568966 21 37600149 [A/G] NM_005128 DOPEY2 EXON Missense_D547N exm1568971 21 37600174 [T/C] NM_005128 DOPEY2 EXON Missense_S555L exm1568973 21 37602755 [T/G] NM_005128 DOPEY2 EXON Missense_V558G exm1568979 21 37602814 [T/G] NM_005128 DOPEY2 EXON Missense_D578Y exm1568984 21 37602869 [T/C] NM_005128 DOPEY2 EXON Missense_S596L exm1981178 21 37602905 [A/G] NM_005128 DOPEY2 EXON Missense_R608Q exm1568993 21 37603028 [T/C] NM_005128 DOPEY2 EXON Missense_A649V exm1568998 21 37603115 [A/G] NM_005128 DOPEY2 EXON Missense_R678K exm1569003 21 37603196 [T/C] NM_005128 DOPEY2 EXON Missense_S705F exm1569006 21 37603245 [A/C] NM_005128 DOPEY2 EXON Missense_S721R exm1569013 21 37603426 [G/C] NM_005128 DOPEY2 EXON Missense_L782V exm1569021 21 37605260 [T/C] NM_005128 DOPEY2 EXON Missense_R837C exm1569022 21 37605264 [A/G] NM_005128 DOPEY2 EXON Missense_Y838C exm1569023 21 37605312 [T/C] NM_005128 DOPEY2 EXON Missense_T854M exm1569030 21 37609633 [A/T] NM_005128 DOPEY2 EXON Missense_F899Y exm1569032 21 37609666 [A/G] NM_005128 DOPEY2 EXON Missense_N910S exm2234971 21 37612127 [A/G] NM_005128 DOPEY2 EXON Missense_G981S exm1569044 21 37612248 [T/C] NM_005128 DOPEY2 EXON Missense_S1021L exm1569052 21 37617436 [A/C] NM_005128 DOPEY2 EXON Missense_H1053P exm1569056 21 37617513 [T/C] NM_005128 DOPEY2 EXON Missense_P1079S exm1569058 21 37617534 [A/G] NM_005128 DOPEY2 EXON Missense_E1086K exm1569068 21 37617630 [T/G] NM_005128 DOPEY2 EXON Missense_C1118G exm1569069 21 37617631 [A/G] NM_005128 DOPEY2 EXON Missense_C1118Y exm1569075 21 37617723 [T/C] NM_005128 DOPEY2 EXON Missense_P1149S exm1569076 21 37617724 [A/C] NM_005128 DOPEY2 EXON Missense_P1149H exm1569090 21 37617888 [T/G] NM_005128 DOPEY2 EXON Missense_A1204S exm2234975 21 37617929 [T/G] NM_005128 DOPEY2 EXON Missense_R1217S exm1569113 21 37618180 [A/G] NM_005128 DOPEY2 EXON Missense_Q1301R exm1569117 21 37618248 [T/C] NM_005128 DOPEY2 EXON Missense_R1324C exm1569119 21 37618285 [A/G] NM_005128 DOPEY2 EXON Missense_R1336Q exm1569122 21 37618302 [T/C] NM_005128 DOPEY2 EXON Missense_R1342W exm1569127 21 37618346 [A/G] NM_005128 DOPEY2 EXON Missense_M1356I exm1569128 21 37618348 [T/C] NM_005128 DOPEY2 EXON Missense_M1357T exm1569138 21 37618506 [A/G] NM_005128 DOPEY2 EXON Missense_G1410S exm1569140 21 37618530 [G/C] NM_005128 DOPEY2 EXON Missense_L1418V exm1569144 21 37618626 [T/G] NM_005128 DOPEY2 EXON Missense_V1450F exm1569150 21 37618740 [A/G] NM_005128 DOPEY2 EXON Missense_V1488M exm1569151 21 37618758 [A/C] NM_005128 DOPEY2 EXON Missense_T1494P exm1981224 21 37618876 [T/C] NM_005128 DOPEY2 EXON Missense_S1533F exm1569166 21 37618896 [A/C] NM_005128 DOPEY2 EXON Missense_P1540T exm1569170 21 37619820 [A/C] NM_005128 DOPEY2 EXON Missense_T1568N exm1569174 21 37619868 [A/G] NM_005128 DOPEY2 EXON Missense_E1584G exm1569180 21 37619914 [C/G] NM_005128 DOPEY2 EXON Missense_N1599K exm1569187 21 37620846 [A/G] NM_005128 DOPEY2 EXON Missense_V1660I exm1569196 21 37626080 [T/C] NM_005128 DOPEY2 EXON Missense_T1711M exm1569198 21 37626109 [A/G] NM_005128 DOPEY2 EXON Missense_D1721N exm1569210 21 37642318 [C/G] NM_005128 DOPEY2 EXON Missense_T1832S exm1569221 21 37649372 [G/C] NM_005128 DOPEY2 EXON Missense_V1896L exm1569225 21 37650343 [A/G] NM_005128 DOPEY2 EXON Missense_R1928H exm1569227 21 37650373 [A/G] NM_005128 DOPEY2 EXON Missense_R1938H exm1569230 21 37650538 [A/G] NM_005128 DOPEY2 EXON Missense_A1952T exm1569233 21 37650574 [A/C] NM_005128 DOPEY2 EXON Missense_T1964P exm1569238 21 37652606 [T/A] NM_005128 DOPEY2 EXON Missense_L1998H exm1569240 21 37653782 [T/C] NM_005128 DOPEY2 EXON Synonymous_N2011N exm1569248 21 37660314 [T/C] NM_005128 DOPEY2 EXON Missense_R2055C exm1569257 21 37661405 [A/G] NM_005128 DOPEY2 EXON Missense_G2139E exm1569298 21 37711084 [A/G] NM_015358 MORC3 EXON Missense_N158S exm1569322 21 37734516 [T/C] NM_015358 MORC3 EXON Missense_M481T exm1569326 21 37736448 [T/C] NM_015358 MORC3 EXON Missense_P504S exm1569333 21 37741308 [T/C] NM_015358 MORC3 EXON Missense_R548C exm1569345 21 37741909 [T/C] NM_015358 MORC3 EXON Missense_T748I exm1569350 21 37742046 [A/G] NM_015358 MORC3 EXON Missense_K794E exm1569357 21 37744709 [T/C] NM_015358 MORC3 EXON Missense_S849L exm1569361 21 37744825 [A/G] NM_015358 MORC3 EXON Missense_E888K exm1569377 21 37758516 [A/G] NM_005441 CHAF1B EXON Missense_R28G exm1569382 21 37759957 [T/C] NM_005441 CHAF1B EXON Missense_A63V exm2261053 21 37761364 [A/G] NM_005441 CHAF1B Silent exm1569431 21 37785612 [T/C] NM_005441 CHAF1B EXON Missense_R498W exm1569433 21 37787619 [T/C] NM_005441 CHAF1B EXON Missense_T507M exm1569439 21 37788641 [A/G] NM_005441 CHAF1B EXON Missense_G553S exm1569460 21 37833506 [A/G] NM_001146077,NM_001146078,NM_001146079,NM_012130,NM_144492 CLDN14,CLDN14,CLDN14,CLDN14,CLDN14 EXON Missense_A163V,Missense_A163V,Missense_A163V,Missense_A163V,Missense_A163V exm1981357 21 37833570 [T/C] NM_001146077,NM_001146078,NM_001146079,NM_012130,NM_144492 CLDN14,CLDN14,CLDN14,CLDN14,CLDN14 EXON Missense_D142N,Missense_D142N,Missense_D142N,Missense_D142N,Missense_D142N exm1569467 21 37833588 [T/C] NM_001146077,NM_001146078,NM_001146079,NM_012130,NM_144492 CLDN14,CLDN14,CLDN14,CLDN14,CLDN14 EXON Missense_V136I,Missense_V136I,Missense_V136I,Missense_V136I,Missense_V136I exm1569471 21 37833633 [T/C] NM_001146077,NM_001146078,NM_001146079,NM_012130,NM_144492 CLDN14,CLDN14,CLDN14,CLDN14,CLDN14 EXON Missense_G121S,Missense_G121S,Missense_G121S,Missense_G121S,Missense_G121S exm1569474 21 37833678 [A/G] NM_001146077,NM_001146078,NM_001146079,NM_012130,NM_144492 CLDN14,CLDN14,CLDN14,CLDN14,CLDN14 EXON Missense_R106C,Missense_R106C,Missense_R106C,Missense_R106C,Missense_R106C exm1569481 21 37833753 [A/G] NM_001146077,NM_001146078,NM_001146079,NM_012130,NM_144492 CLDN14,CLDN14,CLDN14,CLDN14,CLDN14 EXON Missense_R81C,Missense_R81C,Missense_R81C,Missense_R81C,Missense_R81C exm1569486 21 37833809 [T/C] NM_001146077,NM_001146078,NM_001146079,NM_012130,NM_144492 CLDN14,CLDN14,CLDN14,CLDN14,CLDN14 EXON Missense_Y62C,Missense_Y62C,Missense_Y62C,Missense_Y62C,Missense_Y62C exm1569487 21 37833864 [T/C] NM_001146077,NM_001146078,NM_001146079,NM_012130,NM_144492 CLDN14,CLDN14,CLDN14,CLDN14,CLDN14 EXON Missense_V44M,Missense_V44M,Missense_V44M,Missense_V44M,Missense_V44M exm1569498 21 37833983 [A/G] NM_001146077,NM_001146078,NM_001146079,NM_012130,NM_144492 CLDN14,CLDN14,CLDN14,CLDN14,CLDN14 EXON Missense_T4M,Missense_T4M,Missense_T4M,Missense_T4M,Missense_T4M exm-rs2835369 21 37885287 [A/G] NM_001146077,NM_001146078 CLDN14,CLDN14 Silent,Silent exm2275316 21 37948710 [A/G] NM_001146077 CLDN14 EXON Silent exm2268370 21 37953187 [A/G] exm1569508 21 38081480 [T/C] NM_009586,NM_005069 SIM2,SIM2 EXON Missense_A63V,Missense_A63V exm1569511 21 38081500 [A/G] NM_009586,NM_005069 SIM2,SIM2 EXON Missense_A70T,Missense_A70T exm1569519 21 38092123 [T/G] NM_009586,NM_005069 SIM2,SIM2 EXON Missense_V117G,Missense_V117G exm1569523 21 38092173 [A/G] NM_009586,NM_005069 SIM2,SIM2 EXON Missense_D134N,Missense_D134N exm1569526 21 38092195 [T/C] NM_009586,NM_005069 SIM2,SIM2 EXON Missense_T141M,Missense_T141M exm1569527 21 38092201 [A/C] NM_009586,NM_005069 SIM2,SIM2 EXON Missense_H143P,Missense_H143P exm1569550 21 38103452 [T/C] NM_009586,NM_005069 SIM2,SIM2 EXON Synonymous_L284L,Synonymous_L284L exm1569558 21 38115689 [A/G] NM_009586,NM_005069 SIM2,SIM2 EXON Missense_E334K,Missense_E334K exm1569566 21 38117039 [T/C] NM_009586,NM_005069 SIM2,SIM2 EXON Missense_S393L,Missense_S393L exm1569577 21 38117308 [A/C] NM_009586,NM_005069 SIM2,SIM2 EXON Missense_L483M,Missense_L483M exm1569586 21 38117474 [A/T] NM_009586,NM_005069 SIM2,SIM2 EXON Missense_L538Q,Silent exm1569588 21 38117485 [A/G] NM_009586,NM_005069 SIM2,SIM2 EXON Missense_G542R,Silent exm1569606 21 38126554 [T/C] NM_000411,NM_001242784,NM_001242785 HLCS,HLCS,HLCS EXON Missense_R725Q,Missense_R725Q,Missense_R725Q exm1569613 21 38126657 [T/C] NM_000411,NM_001242784,NM_001242785 HLCS,HLCS,HLCS EXON Missense_D691N,Missense_D691N,Missense_D691N exm1981428 21 38126664 [T/G] NM_000411,NM_001242784,NM_001242785 HLCS,HLCS,HLCS EXON Synonymous_G688G,Synonymous_G688G,Synonymous_G688G exm1569629 21 38128931 [T/C] NM_000411,NM_001242784,NM_001242785 HLCS,HLCS,HLCS EXON Missense_V641M,Missense_V641M,Missense_V641M exm1569635 21 38128964 [A/G] NM_000411,NM_001242784,NM_001242785 HLCS,HLCS,HLCS EXON Missense_P630S,Missense_P630S,Missense_P630S exm1569647 21 38137321 [T/C] NM_000411,NM_001242784,NM_001242785 HLCS,HLCS,HLCS EXON Missense_E558K,Missense_E558K,Missense_E558K exm1569649 21 38137354 [T/C] NM_000411,NM_001242784,NM_001242785 HLCS,HLCS,HLCS EXON Missense_V547M,Missense_V547M,Missense_V547M exm1569653 21 38137465 [T/C] NM_000411,NM_001242784,NM_001242785 HLCS,HLCS,HLCS EXON Missense_G510R,Missense_G510R,Missense_G510R exm2268391 21 38268859 [A/G] NM_000411,NM_001242784,NM_001242785 HLCS,HLCS,HLCS Silent,Silent,Silent exm1569668 21 38269241 [T/C] NM_000411,NM_001242784,NM_001242785 HLCS,HLCS,HLCS EXON Missense_R457H,Missense_R457H,Missense_R457H exm1569672 21 38269357 [A/G] NM_000411,NM_001242784,NM_001242785 HLCS,HLCS,HLCS EXON Synonymous_L418L,Synonymous_L418L,Synonymous_L418L exm1569682 21 38302677 [A/G] NM_000411,NM_001242784,NM_001242785 HLCS,HLCS,HLCS EXON Synonymous_N351N,Synonymous_N351N,Synonymous_N351N exm1569683 21 38302697 [T/G] NM_000411,NM_001242784,NM_001242785 HLCS,HLCS,HLCS EXON Missense_Q345K,Missense_Q345K,Missense_Q345K exm1569687 21 38308796 [A/C] NM_000411,NM_001242784,NM_001242785 HLCS,HLCS,HLCS EXON Missense_V317L,Missense_V317L,Missense_V317L exm1569690 21 38308844 [T/C] NM_000411,NM_001242784,NM_001242785 HLCS,HLCS,HLCS EXON Missense_G301S,Missense_G301S,Missense_G301S exm1981461 21 38308855 [T/C] NM_000411,NM_001242784,NM_001242785 HLCS,HLCS,HLCS EXON Missense_R297Q,Missense_R297Q,Missense_R297Q exm1569698 21 38308911 [A/G] NM_000411,NM_001242784,NM_001242785 HLCS,HLCS,HLCS EXON Synonymous_S278S,Synonymous_S278S,Synonymous_S278S exm1569704 21 38309028 [A/C] NM_000411,NM_001242784,NM_001242785 HLCS,HLCS,HLCS EXON Missense_Q239H,Missense_Q239H,Missense_Q239H exm1569708 21 38309112 [T/C] NM_000411,NM_001242784,NM_001242785 HLCS,HLCS,HLCS EXON Synonymous_T211T,Synonymous_T211T,Synonymous_T211T exm1569709 21 38309113 [A/G] NM_000411,NM_001242784,NM_001242785 HLCS,HLCS,HLCS EXON Missense_T211M,Missense_T211M,Missense_T211M exm1569710 21 38309118 [T/C] NM_000411,NM_001242784,NM_001242785 HLCS,HLCS,HLCS EXON Synonymous_P209P,Synonymous_P209P,Synonymous_P209P exm1569717 21 38309272 [A/G] NM_000411,NM_001242784,NM_001242785 HLCS,HLCS,HLCS EXON Missense_T158M,Missense_T158M,Missense_T158M exm1569718 21 38309286 [T/C] NM_000411,NM_001242784,NM_001242785 HLCS,HLCS,HLCS EXON Synonymous_R153R,Synonymous_R153R,Synonymous_R153R exm1569719 21 38309301 [A/G] NM_000411,NM_001242784,NM_001242785 HLCS,HLCS,HLCS EXON Synonymous_P148P,Synonymous_P148P,Synonymous_P148P exm1569720 21 38309321 [T/C] NM_000411,NM_001242784,NM_001242785 HLCS,HLCS,HLCS EXON Missense_V142I,Missense_V142I,Missense_V142I exm1569725 21 38309377 [A/G] NM_000411,NM_001242784,NM_001242785 HLCS,HLCS,HLCS EXON Missense_A123V,Missense_A123V,Missense_A123V exm1569727 21 38309459 [T/C] NM_000411,NM_001242784,NM_001242785 HLCS,HLCS,HLCS EXON Missense_V96I,Missense_V96I,Missense_V96I exm1569733 21 38309512 [T/C] NM_000411,NM_001242784,NM_001242785 HLCS,HLCS,HLCS EXON Missense_G78D,Missense_G78D,Missense_G78D exm1569737 21 38309612 [G/C] NM_000411,NM_001242784,NM_001242785 HLCS,HLCS,HLCS EXON Missense_P45A,Missense_P45A,Missense_P45A exm1569741 21 38309678 [T/C] NM_000411,NM_001242784,NM_001242785 HLCS,HLCS,HLCS EXON Missense_D23N,Missense_D23N,Missense_D23N exm1569758 21 38390173 [A/G] NM_018962 DSCR6 Silent exm1569761 21 38390220 [A/G] NM_018962 DSCR6 EXON Missense_G96R exm1569762 21 38390226 [T/C] NM_018962 DSCR6 EXON Nonsense_Q98X exm2234985 21 38390257 [T/C] NM_018962 DSCR6 EXON Missense_T108M exm1569767 21 38390277 [T/G] NM_018962 DSCR6 EXON Nonsense_E115X exm1569770 21 38390329 [T/C] NM_018962 DSCR6 EXON Missense_P132L exm1569771 21 38390362 [A/G] NM_018962 DSCR6 EXON Missense_R143Q exm1569772 21 38390408 [A/C] NM_018962 DSCR6 EXON Missense_N158K exm1569773 21 38390418 [T/C] NM_018962 DSCR6 EXON Nonsense_R162X exm1569774 21 38390419 [A/G] NM_018962 DSCR6 EXON Missense_R162Q exm1569775 21 38390425 [T/C] NM_018962 DSCR6 EXON Missense_S164L exm1569777 21 38390444 [C/G] NM_018962 DSCR6 EXON Missense_W170C exm2272982 21 38427828 [T/C] exm1569790 21 38437907 [A/G] NR_028352,NM_153681,NM_153682 PIGP,PIGP,PIGP EXON Silent,Missense_A151V,Missense_A127V exm1569793 21 38437951 [T/G] NR_028352,NM_153681,NM_153682 PIGP,PIGP,PIGP EXON Silent,Missense_R136S,Missense_R112S exm1569798 21 38438006 [T/C] NR_028352,NM_153681,NM_153682 PIGP,PIGP,PIGP EXON Silent,Missense_Y118C,Missense_Y94C exm1569799 21 38439571 [T/G] NR_028352,NM_153681,NM_153682 PIGP,PIGP,PIGP EXON Silent,Missense_T113P,Missense_T89P exm1569803 21 38439640 [T/C] NR_028352,NM_153681,NM_153682 PIGP,PIGP,PIGP EXON Silent,Missense_I90V,Missense_I66V exm1569807 21 38444764 [T/C] NR_028352,NM_153681,NM_153682 PIGP,PIGP,PIGP EXON Silent,Missense_V42I,Missense_V18I exm1569813 21 38444863 [T/C] NR_028352,NM_153681,NM_153682 PIGP,PIGP,PIGP EXON Silent,Missense_A9T,Silent exm1569817 21 38444881 [A/G] NR_028352,NM_153681,NM_153682 PIGP,PIGP,PIGP EXON Silent,Missense_P3S,Silent exm-rs2835575 21 38455936 [A/G] NM_001001894,NM_003316 TTC3,TTC3 EXON Silent,Silent exm1569862 21 38466344 [A/G] NM_001001894,NM_003316 TTC3,TTC3 EXON Missense_N214S,Missense_N214S exm-rs1003719 21 38491095 [A/G] NM_001001894,NM_003316 TTC3,TTC3 Silent,Silent exm1569889 21 38494273 [G/C] NM_001001894,NM_003316 TTC3,TTC3 EXON Missense_L353V,Missense_L353V exm1569893 21 38495285 [T/C] NM_001001894,NM_003316 TTC3,TTC3 EXON Nonsense_R356X,Nonsense_R356X exm1569902 21 38497010 [A/G] NM_001001894,NM_003316 TTC3,TTC3 EXON Missense_E401K,Missense_E401K exm1569906 21 38498381 [T/G] NM_001001894,NM_003316 TTC3,TTC3 EXON Missense_V412G,Missense_V412G exm1569955 21 38520947 [A/G] NM_001001894,NM_003316 TTC3,TTC3 EXON Synonymous_K706K,Synonymous_K706K exm1569961 21 38524272 [G/C] NM_001001894,NM_003316 TTC3,TTC3 EXON Missense_E786Q,Missense_E786Q exm1569975 21 38528987 [A/G] NM_001001894,NM_003316 TTC3,TTC3 EXON Missense_R924H,Missense_R924H exm1570006 21 38536402 [T/C] NM_001001894,NM_003316 TTC3,TTC3 EXON Missense_R1074W,Missense_R1074W exm1570015 21 38537924 [G/C] NM_001001894,NM_003316 TTC3,TTC3 EXON Missense_E1136D,Missense_E1136D exm1570017 21 38538018 [T/C] NM_001001894,NM_003316 TTC3,TTC3 EXON Missense_C1168R,Missense_C1168R exm1570034 21 38538291 [A/G] NM_001001894,NM_003316 TTC3,TTC3 EXON Missense_D1259N,Missense_D1259N exm1570036 21 38538319 [A/G] NM_001001894,NM_003316 TTC3,TTC3 EXON Missense_D1268G,Missense_D1268G exm1570042 21 38538417 [C/G] NM_001001894,NM_003316 TTC3,TTC3 EXON Missense_E1301Q,Missense_E1301Q exm1570043 21 38538423 [T/G] NM_001001894,NM_003316 TTC3,TTC3 EXON Missense_V1303L,Missense_V1303L exm1570044 21 38538429 [A/C] NM_001001894,NM_003316 TTC3,TTC3 EXON Missense_P1305T,Missense_P1305T exm1570086 21 38558042 [A/G] NM_001001894,NM_003316 TTC3,TTC3 EXON Missense_H1598R,Missense_H1598R exm1570091 21 38560797 [T/G] NM_001001894,NM_003316 TTC3,TTC3 EXON Missense_V1642G,Missense_V1642G exm1570092 21 38560824 [A/G] NM_001001894,NM_003316 TTC3,TTC3 EXON Missense_S1651N,Missense_S1651N exm1570094 21 38560866 [G/C] NM_001001894,NM_003316 TTC3,TTC3 EXON Missense_A1665G,Missense_A1665G exm1570096 21 38563686 [C/G] NM_001001894,NM_003316 TTC3,TTC3 EXON Missense_L1692F,Missense_L1692F exm1570098 21 38563725 [A/G] NM_001001894,NM_003316 TTC3,TTC3 EXON Synonymous_K1705K,Synonymous_K1705K exm1570104 21 38567985 [A/G] NM_001001894,NM_003316 TTC3,TTC3 EXON Missense_E1743K,Missense_E1743K exm1570106 21 38568009 [G/C] NM_001001894,NM_003316 TTC3,TTC3 EXON Missense_D1751H,Missense_D1751H exm1570109 21 38568082 [C/G] NM_001001894,NM_003316 TTC3,TTC3 EXON Missense_S1775T,Missense_S1775T exm1570111 21 38568183 [T/C] NM_001001894,NM_003316 TTC3,TTC3 EXON Missense_R1809W,Missense_R1809W exm1570118 21 38568252 [T/C] NM_001001894,NM_003316 TTC3,TTC3 EXON Missense_R1832C,Missense_R1832C exm1570119 21 38568259 [T/C] NM_001001894,NM_003316 TTC3,TTC3 EXON Missense_A1834V,Missense_A1834V exm1981612 21 38570309 [A/G] NM_001001894,NM_003316 TTC3,TTC3 EXON Missense_D1945N,Missense_D1945N exm1570138 21 38572579 [A/C] NM_001001894,NM_003316 TTC3,TTC3 EXON Nonsense_S1966X,Nonsense_S1966X exm1570146 21 38573778 [T/C] NM_001001894,NM_003316 TTC3,TTC3 EXON Missense_P1994L,Missense_P1994L exm1570149 21 38573817 [T/C] NM_001001894,NM_003316 TTC3,TTC3 EXON Missense_P2007L,Missense_P2007L exm1570150 21 38573848 [T/G] NM_001001894,NM_003316 TTC3,TTC3 EXON Missense_Q2017H,Missense_Q2017H exm1570182 21 38599958 [T/C] NM_006052 DSCR3 EXON Missense_V270M exm1570192 21 38600106 [A/C] NM_006052 DSCR3 EXON Synonymous_G220G exm1570202 21 38600581 [T/C] NM_006052 DSCR3 EXON Missense_S201G exm1570203 21 38600601 [A/G] NM_006052 DSCR3 EXON Missense_T194M exm1570206 21 38604686 [T/C] NM_006052 DSCR3 EXON Missense_V167I exm1570213 21 38605694 [A/G] NM_006052 DSCR3 EXON Missense_T134I exm1570231 21 38612916 [T/C] NM_006052 DSCR3 EXON Missense_I28V exm-rs12483205 21 38740824 [A/G] NM_101395 DYRK1A Silent exm1570269 21 38865388 [T/G] NM_101395,NM_130436,NM_130438,NM_001396 DYRK1A,DYRK1A,DYRK1A,DYRK1A EXON Missense_A341S,Missense_A332S,Missense_A341S,Missense_A341S exm1570271 21 38865433 [A/G] NM_101395,NM_130436,NM_130438,NM_001396 DYRK1A,DYRK1A,DYRK1A,DYRK1A EXON Missense_T356A,Missense_T347A,Missense_T356A,Missense_T356A exm1570302 21 38878590 [T/G] NM_101395,NM_130436,NM_130438,NM_001396 DYRK1A,DYRK1A,DYRK1A,DYRK1A EXON Missense_C579G,Silent,Silent,Silent exm1570303 21 38878599 [A/C] NM_101395,NM_130436,NM_130438,NM_001396 DYRK1A,DYRK1A,DYRK1A,DYRK1A EXON Missense_P582T,Silent,Silent,Silent exm1570308 21 38884218 [A/G] NM_101395,NM_130436,NM_130438,NM_001396 DYRK1A,DYRK1A,DYRK1A,DYRK1A EXON Silent,Missense_R550H,Synonymous_A517A,Missense_R559H exm1570312 21 38884304 [A/C] NM_101395,NM_130436,NM_130438,NM_001396 DYRK1A,DYRK1A,DYRK1A,DYRK1A EXON Silent,Missense_T579P,Silent,Missense_T588P exm1570318 21 38884440 [A/T] NM_101395,NM_130436,NM_130438,NM_001396 DYRK1A,DYRK1A,DYRK1A,DYRK1A EXON Silent,Missense_Y624F,Silent,Missense_Y633F exm1570324 21 38884652 [A/G] NM_101395,NM_130436,NM_130438,NM_001396 DYRK1A,DYRK1A,DYRK1A,DYRK1A EXON Silent,Missense_V695I,Silent,Missense_V704I exm1570328 21 38884713 [G/C] NM_101395,NM_130436,NM_130438,NM_001396 DYRK1A,DYRK1A,DYRK1A,DYRK1A EXON Silent,Missense_A715G,Silent,Missense_A724G exm2272983 21 38899379 [T/C] exm-rs2835810 21 38932778 [T/C] exm-rs1000026 21 38934599 [T/C] exm1570356 21 39087303 [T/C] NM_002240 KCNJ6 EXON Missense_I53V exm2272984 21 39194878 [T/C] NM_002240 KCNJ6 Silent exm2268392 21 39284298 [A/G] NM_002240 KCNJ6 Silent exm1570369 21 39492405 [T/C] NM_005867 DSCR4 EXON Missense_I76V exm1570372 21 39492443 [T/G] NM_005867 DSCR4 EXON Missense_P63Q exm1570375 21 39493232 [A/G] NM_005867 DSCR4 EXON Missense_P40S exm1570378 21 39493285 [C/G] NM_005867 DSCR4 EXON Missense_A22G exm1570380 21 39493316 [T/G] NM_005867 DSCR4 EXON Missense_P12T exm2268393 21 39579012 [A/G] NR_027695 DSCR10 Silent exm1570404 21 39671199 [A/G] NM_001276439,NM_001276437,NM_001276438,NM_001276436,NM_001276435,NM_002243,NM_170736,NM_170737 KCNJ15,KCNJ15,KCNJ15,KCNJ15,KCNJ15,KCNJ15,KCNJ15,KCNJ15 EXON Missense_I6V,Missense_I6V,Missense_I6V,Missense_I6V,Missense_I6V,Missense_I6V,Missense_I6V,Missense_I6V exm2234990 21 39671271 [A/C] NM_001276439,NM_001276437,NM_001276438,NM_001276436,NM_001276435,NM_002243,NM_170736,NM_170737 KCNJ15,KCNJ15,KCNJ15,KCNJ15,KCNJ15,KCNJ15,KCNJ15,KCNJ15 EXON Missense_M30L,Missense_M30L,Missense_M30L,Missense_M30L,Missense_M30L,Missense_M30L,Missense_M30L,Missense_M30L exm1570414 21 39671449 [T/C] NM_001276439,NM_001276437,NM_001276438,NM_001276436,NM_001276435,NM_002243,NM_170736,NM_170737 KCNJ15,KCNJ15,KCNJ15,KCNJ15,KCNJ15,KCNJ15,KCNJ15,KCNJ15 EXON Missense_A89V,Missense_A89V,Missense_A89V,Missense_A89V,Missense_A89V,Missense_A89V,Missense_A89V,Missense_A89V exm1570418 21 39671475 [T/G] NM_001276439,NM_001276437,NM_001276438,NM_001276436,NM_001276435,NM_002243,NM_170736,NM_170737 KCNJ15,KCNJ15,KCNJ15,KCNJ15,KCNJ15,KCNJ15,KCNJ15,KCNJ15 EXON Missense_G98C,Missense_G98C,Missense_G98C,Missense_G98C,Missense_G98C,Missense_G98C,Missense_G98C,Missense_G98C exm1570419 21 39671476 [A/G] NM_001276439,NM_001276437,NM_001276438,NM_001276436,NM_001276435,NM_002243,NM_170736,NM_170737 KCNJ15,KCNJ15,KCNJ15,KCNJ15,KCNJ15,KCNJ15,KCNJ15,KCNJ15 EXON Missense_G98D,Missense_G98D,Missense_G98D,Missense_G98D,Missense_G98D,Missense_G98D,Missense_G98D,Missense_G98D exm1570438 21 39671862 [T/C] NM_001276439,NM_001276437,NM_001276438,NM_001276436,NM_001276435,NM_002243,NM_170736,NM_170737 KCNJ15,KCNJ15,KCNJ15,KCNJ15,KCNJ15,KCNJ15,KCNJ15,KCNJ15 EXON Missense_R227W,Missense_R227W,Missense_R227W,Missense_R227W,Missense_R227W,Missense_R227W,Missense_R227W,Missense_R227W exm1981739 21 39671863 [A/G] NM_001276439,NM_001276437,NM_001276438,NM_001276436,NM_001276435,NM_002243,NM_170736,NM_170737 KCNJ15,KCNJ15,KCNJ15,KCNJ15,KCNJ15,KCNJ15,KCNJ15,KCNJ15 EXON Missense_R227Q,Missense_R227Q,Missense_R227Q,Missense_R227Q,Missense_R227Q,Missense_R227Q,Missense_R227Q,Missense_R227Q exm1570458 21 39672193 [A/C] NM_001276439,NM_001276437,NM_001276438,NM_001276436,NM_001276435,NM_002243,NM_170736,NM_170737 KCNJ15,KCNJ15,KCNJ15,KCNJ15,KCNJ15,KCNJ15,KCNJ15,KCNJ15 EXON Missense_P337Q,Missense_P337Q,Missense_P337Q,Missense_P337Q,Missense_P337Q,Missense_P337Q,Missense_P337Q,Missense_P337Q exm1570480 21 39774495 [T/C] NM_001243432,NM_001243429,NM_001136155,NM_182918,NM_001243428,NM_001136154,NM_004449 ERG,ERG,ERG,ERG,ERG,ERG,ERG EXON Missense_M226I,Missense_M127I,Missense_M127I,Missense_M219I,Missense_M226I,Missense_M226I,Missense_M226I exm1570489 21 39775589 [T/C] NM_001243432,NM_001243429,NM_001136155,NM_182918,NM_001243428,NM_001136154,NM_004449 ERG,ERG,ERG,ERG,ERG,ERG,ERG EXON Missense_E151G,Missense_E52G,Missense_E52G,Missense_E144G,Missense_E151G,Missense_E151G,Missense_E151G exm2268371 21 39788804 [A/G] NM_001243432,NM_001243429,NM_001136155,NM_182918,NM_001243428,NM_001136154,NM_004449 ERG,ERG,ERG,ERG,ERG,ERG,ERG Silent,Silent,Silent,Silent,Silent,Silent,Silent exm1570505 21 39795443 [A/T] NM_001243432,NM_001243429,NM_001136155,NM_182918,NM_001243428,NM_001136154,NM_004449 ERG,ERG,ERG,ERG,ERG,ERG,ERG EXON Missense_M100L,Missense_M1L,Missense_M1L,Missense_M93L,Missense_M100L,Missense_M100L,Missense_M100L exm-rs7275212 21 39852551 [A/T] NM_001243432,NM_001243429,NM_001136155,NM_182918,NM_001243428,NM_001136154,NM_004449 ERG,ERG,ERG,ERG,ERG,ERG,ERG Silent,Silent,Silent,Silent,Silent,Silent,Silent exm1570530 21 39947586 [T/C] NM_001243432,NM_001243429,NM_001243428,NM_001136154,NM_004449 ERG,ERG,ERG,ERG,ERG EXON Synonymous_K13K,Silent,Synonymous_K13K,Synonymous_K13K,Synonymous_K13K exm1570531 21 39947608 [A/G] NM_001243432,NM_001243429,NM_001243428,NM_001136154,NM_004449 ERG,ERG,ERG,ERG,ERG EXON Missense_P6L,Silent,Missense_P6L,Missense_P6L,Missense_P6L exm1981784 21 39947670 [A/G] NM_001243432,NM_001243429,NM_001243428,NM_001136154,NM_004449 ERG,ERG,ERG,ERG,ERG EXON Silent,Silent,Silent,Silent,Silent exm2264729 21 39972727 [A/C] NM_001243432,NM_001243428,NM_001136154,NM_004449 ERG,ERG,ERG,ERG Silent,Silent,Silent,Silent exm-rs459094 21 40007704 [T/G] NM_001243432,NM_001243428,NM_001136154,NM_004449 ERG,ERG,ERG,ERG Silent,Silent,Silent,Silent exm-rs743446 21 40056423 [A/C] exm-rs1209950 21 40173528 [T/C] exm1570542 21 40186202 [A/G] NM_001256295,NM_005239 ETS2,ETS2 EXON Missense_A204T,Missense_A64T exm2254618 21 40186796 [T/C] NM_001256295,NM_005239 ETS2,ETS2 EXON Synonymous_F272F,Synonymous_F132F exm1570550 21 40186797 [A/G] NM_001256295,NM_005239 ETS2,ETS2 EXON Missense_G273S,Missense_G133S exm1981796 21 40190405 [A/G] NM_001256295,NM_005239 ETS2,ETS2 EXON Missense_G356S,Missense_G216S exm1570560 21 40190408 [A/C] NM_001256295,NM_005239 ETS2,ETS2 EXON Missense_L357I,Missense_L217I exm1570561 21 40190427 [T/C] NM_001256295,NM_005239 ETS2,ETS2 EXON Missense_P363L,Missense_P223L exm1570568 21 40190504 [A/G] NM_001256295,NM_005239 ETS2,ETS2 EXON Missense_V389I,Missense_V249I exm1570584 21 40193596 [A/G] NM_001256295,NM_005239 ETS2,ETS2 EXON Missense_G528R,Missense_G388R exm1570594 21 40194787 [A/G] NM_001256295,NM_005239 ETS2,ETS2 EXON Missense_G602S,Missense_G462S exm-rs2836754 21 40291740 [T/C] exm-rs2836823 21 40380249 [T/C] exm-rs2242944 21 40465178 [A/G] exm-rs2836878 21 40465534 [A/G] exm-rs378108 21 40469520 [A/G] exm1570611 21 40547555 [G/C] NM_203433,NR_049728,NM_001261824,NM_003720 PSMG1,PSMG1,PSMG1,PSMG1 EXON Missense_L255F,Silent,Missense_L271F,Missense_L276F exm1570615 21 40550396 [T/C] NM_203433,NR_049728,NM_001261824,NM_003720 PSMG1,PSMG1,PSMG1,PSMG1 EXON Missense_V191I,Silent,Missense_V207I,Missense_V212I exm1570625 21 40550534 [T/C] NM_203433,NR_049728,NM_001261824,NM_003720 PSMG1,PSMG1,PSMG1,PSMG1 EXON Missense_I145V,Silent,Missense_I161V,Missense_I166V exm1570629 21 40551877 [T/A] NM_203433,NR_049728,NM_001261824,NM_003720 PSMG1,PSMG1,PSMG1,PSMG1 EXON Silent,Silent,Missense_E138D,Missense_E143D exm1570630 21 40551887 [T/C] NM_203433,NR_049728,NM_001261824,NM_003720 PSMG1,PSMG1,PSMG1,PSMG1 EXON Silent,Silent,Missense_Y135C,Missense_Y140C exm1570631 21 40551898 [A/C] NM_203433,NR_049728,NM_001261824,NM_003720 PSMG1,PSMG1,PSMG1,PSMG1 EXON Silent,Silent,Silent,Missense_Q136H exm1570640 21 40552338 [T/G] NM_203433,NR_049728,NM_001261824,NM_003720 PSMG1,PSMG1,PSMG1,PSMG1 EXON Missense_N89T,Silent,Missense_N89T,Missense_N89T exm1570642 21 40552341 [A/G] NM_203433,NR_049728,NM_001261824,NM_003720 PSMG1,PSMG1,PSMG1,PSMG1 EXON Missense_M88T,Silent,Missense_M88T,Missense_M88T exm1570643 21 40552362 [C/G] NM_203433,NR_049728,NM_001261824,NM_003720 PSMG1,PSMG1,PSMG1,PSMG1 EXON Missense_A81G,Silent,Missense_A81G,Missense_A81G exm1570646 21 40553718 [A/G] NM_203433,NR_049728,NM_001261824,NM_003720 PSMG1,PSMG1,PSMG1,PSMG1 EXON Missense_A74V,Silent,Missense_A74V,Missense_A74V exm1570647 21 40553733 [A/G] NM_203433,NR_049728,NM_001261824,NM_003720 PSMG1,PSMG1,PSMG1,PSMG1 EXON Missense_S69F,Silent,Missense_S69F,Missense_S69F exm1570663 21 40555274 [A/G] NM_203433,NR_049728,NM_001261824,NM_003720 PSMG1,PSMG1,PSMG1,PSMG1 EXON Missense_P13L,Silent,Missense_P13L,Missense_P13L exm1981835 21 40559229 [T/C] NM_018963,NM_033656 BRWD1,BRWD1 EXON Missense_K2229R,Silent exm1570685 21 40568453 [A/G] NM_018963,NM_033656 BRWD1,BRWD1 EXON Missense_T2181M,Missense_T2181M exm1570688 21 40568528 [T/C] NM_018963,NM_033656 BRWD1,BRWD1 EXON Missense_K2156R,Missense_K2156R exm1570701 21 40568765 [T/G] NM_018963,NM_033656 BRWD1,BRWD1 EXON Missense_Q2077P,Missense_Q2077P exm1570702 21 40568771 [A/G] NM_018963,NM_033656 BRWD1,BRWD1 EXON Missense_L2075S,Missense_L2075S exm1570705 21 40568847 [T/C] NM_018963,NM_033656 BRWD1,BRWD1 EXON Missense_T2050A,Missense_T2050A exm1570713 21 40569102 [A/G] NM_018963,NM_033656 BRWD1,BRWD1 EXON Missense_L1965F,Missense_L1965F exm1570723 21 40570737 [A/C] NM_018963,NM_033656 BRWD1,BRWD1 EXON Missense_L1869V,Missense_L1869V exm1981850 21 40570769 [A/T] NM_018963,NM_033656 BRWD1,BRWD1 EXON Missense_Q1858L,Missense_Q1858L exm1570726 21 40570830 [C/G] NM_018963,NM_033656 BRWD1,BRWD1 EXON Missense_H1838D,Missense_H1838D exm1570730 21 40570890 [T/C] NM_018963,NM_033656 BRWD1,BRWD1 EXON Missense_I1818V,Missense_I1818V exm1570735 21 40570998 [A/G] NM_018963,NM_033656 BRWD1,BRWD1 EXON Missense_L1782F,Missense_L1782F exm1570741 21 40571141 [A/T] NM_018963,NM_033656 BRWD1,BRWD1 EXON Missense_H1734L,Missense_H1734L exm1570745 21 40571163 [A/G] NM_018963,NM_033656 BRWD1,BRWD1 EXON Missense_R1727W,Missense_R1727W exm1570747 21 40571226 [A/G] NM_018963,NM_033656 BRWD1,BRWD1 EXON Missense_H1706Y,Missense_H1706Y exm1570749 21 40571246 [A/G] NM_018963,NM_033656 BRWD1,BRWD1 EXON Missense_L1699P,Missense_L1699P exm1570750 21 40571259 [T/C] NM_018963,NM_033656 BRWD1,BRWD1 EXON Missense_D1695N,Missense_D1695N exm1570754 21 40571413 [A/C] NM_018963,NM_033656 BRWD1,BRWD1 EXON Missense_M1643I,Missense_M1643I exm1570763 21 40572186 [T/C] NM_018963,NM_033656 BRWD1,BRWD1 EXON Missense_N1571S,Missense_N1571S exm1570769 21 40572256 [T/A] NM_018963,NM_033656 BRWD1,BRWD1 EXON Missense_S1548T,Missense_S1548T exm1570770 21 40572282 [C/G] NM_018963,NM_033656 BRWD1,BRWD1 EXON Missense_S1539C,Missense_S1539C exm1570771 21 40572286 [T/C] NM_018963,NM_033656 BRWD1,BRWD1 EXON Missense_T1538A,Missense_T1538A exm1570774 21 40572304 [T/C] NM_018963,NM_033656 BRWD1,BRWD1 EXON Missense_V1532M,Missense_V1532M exm1570775 21 40574305 [A/G] NM_018963,NM_033656 BRWD1,BRWD1 EXON Missense_S1511P,Missense_S1511P exm1570780 21 40574434 [T/C] NM_018963,NM_033656 BRWD1,BRWD1 EXON Missense_I1468V,Missense_I1468V exm1570783 21 40578068 [A/G] NM_018963,NM_033656 BRWD1,BRWD1 EXON Missense_C1444R,Missense_C1444R exm1570784 21 40578076 [T/C] NM_018963,NM_033656 BRWD1,BRWD1 EXON Missense_R1441Q,Missense_R1441Q exm1570818 21 40590198 [T/C] NM_018963,NM_033656 BRWD1,BRWD1 EXON Missense_D1180G,Missense_D1180G exm1570819 21 40590432 [A/G] NM_018963,NM_033656 BRWD1,BRWD1 EXON Synonymous_L1179L,Synonymous_L1179L exm1570830 21 40601259 [A/G] NM_018963,NM_033656 BRWD1,BRWD1 EXON Missense_M1035T,Missense_M1035T exm1570831 21 40601323 [T/C] NM_018963,NM_033656 BRWD1,BRWD1 EXON Missense_V1014I,Missense_V1014I exm1570832 21 40604205 [T/C] NM_018963,NM_033656 BRWD1,BRWD1 EXON Missense_I966M,Missense_I966M exm1570851 21 40619757 [A/G] NM_018963,NM_033656 BRWD1,BRWD1 EXON Missense_S784L,Missense_S784L exm1570861 21 40630448 [G/C] NM_018963,NM_033656 BRWD1,BRWD1 EXON Missense_R679T,Missense_R679T exm1570862 21 40630474 [T/C] NM_018963,NM_033656 BRWD1,BRWD1 EXON Missense_M670I,Missense_M670I exm1570881 21 40642210 [A/G] NM_018963,NM_033656 BRWD1,BRWD1 EXON Missense_M465T,Missense_M465T exm1570893 21 40648108 [T/C] NM_018963,NM_033656 BRWD1,BRWD1 EXON Missense_N379S,Missense_N379S exm1570901 21 40650670 [A/G] NM_018963,NM_033656 BRWD1,BRWD1 EXON Synonymous_V334V,Synonymous_V334V exm1570919 21 40667811 [T/C] NM_018963,NM_033656 BRWD1,BRWD1 EXON Missense_K156R,Missense_K156R exm2235004 21 40670434 [T/G] NM_018963,NM_033656,NM_001007246 BRWD1,BRWD1,BRWD1 EXON Missense_K91N,Missense_K91N,Missense_K91N exm2264730 21 40708702 [A/C] exm1570966 21 40717199 [T/C] NM_004965 HMGN1 EXON Missense_D43G exm1570973 21 40720261 [A/G] NM_004965 HMGN1 EXON Missense_P28L exm1570974 21 40720262 [A/G] NM_004965 HMGN1 EXON Missense_P28S exm1570979 21 40720485 [T/C] NM_004965 HMGN1 EXON Missense_A12T exm1570981 21 40720494 [T/C] NM_004965 HMGN1 EXON Missense_A9T exm1570992 21 40752359 [T/C] NM_004627 WRB EXON Missense_F17L exm1571006 21 40763704 [A/G] NM_004627,NM_001146218 WRB,WRB EXON Missense_R93Q,Missense_R59Q exm1571010 21 40763754 [A/G] NM_004627,NM_001146218 WRB,WRB EXON Missense_V110I,Missense_V76I exm1571014 21 40765131 [A/G] NM_004627,NM_001146218 WRB,WRB EXON Missense_V126I,Missense_V92I exm1571015 21 40765146 [A/G] NM_004627,NM_001146218 WRB,WRB EXON Missense_V131M,Missense_V97M exm1571031 21 40777900 [T/G] NM_152505 LCA5L EXON Missense_T641P exm1571040 21 40778025 [A/G] NM_152505 LCA5L EXON Missense_M599T exm1571045 21 40778182 [T/C] NM_152505 LCA5L EXON Missense_G547S exm1571053 21 40778280 [A/G] NM_152505 LCA5L EXON Missense_T514M exm1571055 21 40778305 [A/G] NM_152505 LCA5L EXON Missense_L506F exm1571066 21 40781985 [T/C] NM_152505 LCA5L EXON Missense_K401R exm1571068 21 40781998 [T/C] NM_152505 LCA5L EXON Missense_D397N exm1571069 21 40782017 [T/G] NM_152505 LCA5L EXON Missense_K390N exm2254622 21 40782020 [A/G] NM_152505 LCA5L EXON Synonymous_G389G exm1571070 21 40782020 [A/G] NM_152505 LCA5L EXON Synonymous_G389G exm1571073 21 40782203 [C/G] NM_152505 LCA5L EXON Missense_P384R exm1571082 21 40792696 [A/G] NM_152505 LCA5L EXON Missense_L304S exm1571085 21 40792722 [G/C] NM_152505 LCA5L EXON Missense_Q295H exm1981988 21 40794933 [A/G] NM_152505 LCA5L EXON Missense_T269I exm1571091 21 40794945 [G/C] NM_152505 LCA5L EXON Missense_S265C exm1571093 21 40794993 [T/G] NM_152505 LCA5L EXON Missense_S249Y exm1571098 21 40795054 [T/C] NM_152505 LCA5L EXON Missense_R229G exm1571099 21 40795107 [G/C] NM_152505 LCA5L EXON Missense_R211T exm1571101 21 40795214 [A/C] NM_152505 LCA5L EXON Missense_L175F exm1571106 21 40795320 [A/G] NM_152505 LCA5L EXON Missense_A140V exm1571108 21 40795346 [T/C] NM_152505 LCA5L EXON Missense_M131I exm1571110 21 40795408 [T/C] NM_152505 LCA5L EXON Missense_E111K exm1571116 21 40800301 [T/C] NM_152505 LCA5L EXON Missense_R40Q exm1571121 21 40800348 [C/G] NM_152505 LCA5L EXON Missense_R24S exm1571124 21 40800371 [T/C] NM_152505 LCA5L EXON Missense_G17S exm1571125 21 40800373 [A/G] NM_152505 LCA5L EXON Missense_F16S exm1571132 21 40823836 [A/G] NM_001001713,NM_007341 SH3BGR,SH3BGR EXON Silent,Missense_M1I exm1571138 21 40823902 [C/G] NM_001001713,NM_007341 SH3BGR,SH3BGR EXON Silent,Missense_D23E exm1571139 21 40823915 [A/G] NM_001001713,NM_007341 SH3BGR,SH3BGR EXON Silent,Missense_A28T exm1571143 21 40823969 [A/G] NM_001001713,NM_007341 SH3BGR,SH3BGR EXON Silent,Missense_G46S exm1571146 21 40823981 [A/G] NM_001001713,NM_007341 SH3BGR,SH3BGR EXON Silent,Missense_D50N exm1571156 21 40871797 [T/G] NM_001001713,NM_007341 SH3BGR,SH3BGR EXON Missense_G73C,Missense_G184C exm1571157 21 40871809 [T/G] NM_001001713,NM_007341 SH3BGR,SH3BGR EXON Missense_V77L,Missense_V188L exm1571158 21 40871810 [T/C] NM_001001713,NM_007341 SH3BGR,SH3BGR EXON Missense_V77A,Missense_V188A exm1571166 21 40883608 [T/C] NM_001001713,NM_007341 SH3BGR,SH3BGR EXON Missense_T98M,Missense_T209M exm1571171 21 40883646 [A/G] NM_001001713,NM_007341 SH3BGR,SH3BGR EXON Missense_E111K,Missense_E222K exm1571173 21 40883671 [A/G] NM_001001713,NM_007341 SH3BGR,SH3BGR EXON Missense_G119E,Missense_G230E exm1571206 21 41032740 [T/C] NM_033172,NM_033170,NM_006057,NM_033171 B3GALT5,B3GALT5,B3GALT5,B3GALT5 EXON Missense_M85T,Missense_M85T,Missense_M85T,Missense_M85T exm1571210 21 41032816 [C/G] NM_033172,NM_033170,NM_006057,NM_033171 B3GALT5,B3GALT5,B3GALT5,B3GALT5 EXON Missense_D110E,Missense_D110E,Missense_D110E,Missense_D110E exm1571219 21 41032926 [T/C] NM_033172,NM_033170,NM_006057,NM_033171 B3GALT5,B3GALT5,B3GALT5,B3GALT5 EXON Missense_P147L,Missense_P147L,Missense_P147L,Missense_P147L exm1571223 21 41032980 [A/G] NM_033172,NM_033170,NM_006057,NM_033171 B3GALT5,B3GALT5,B3GALT5,B3GALT5 EXON Missense_Y165C,Missense_Y165C,Missense_Y165C,Missense_Y165C exm1982023 21 41033333 [A/G] NM_033172,NM_033170,NM_006057,NM_033171 B3GALT5,B3GALT5,B3GALT5,B3GALT5 EXON Missense_A283T,Missense_A283T,Missense_A283T,Missense_A283T exm1982024 21 41033345 [A/G] NM_033172,NM_033170,NM_006057,NM_033171 B3GALT5,B3GALT5,B3GALT5,B3GALT5 EXON Missense_I287V,Missense_I287V,Missense_I287V,Missense_I287V exm-rs1735151 21 41123301 [T/C] NM_001080444 IGSF5 Silent exm1571264 21 41137507 [C/G] NM_001080444 IGSF5 EXON Missense_R49T exm1571265 21 41137545 [A/G] NM_001080444 IGSF5 EXON Missense_V62I exm1571266 21 41137563 [G/C] NM_001080444 IGSF5 EXON Missense_L68V exm1571274 21 41137635 [T/C] NM_001080444 IGSF5 EXON Missense_R92C exm1571279 21 41137687 [A/T] NM_001080444 IGSF5 EXON Missense_I109N exm1571280 21 41137689 [T/A] NM_001080444 IGSF5 EXON Missense_I110F exm1571291 21 41142892 [A/T] NM_001080444 IGSF5 EXON Missense_N156K exm1571294 21 41142932 [T/C] NM_001080444 IGSF5 EXON Missense_R170W exm1571300 21 41142996 [T/C] NM_001080444 IGSF5 EXON Missense_P191L exm1571302 21 41143018 [A/T] NM_001080444 IGSF5 EXON Missense_S198R exm1571307 21 41143070 [A/G] NM_001080444 IGSF5 EXON Missense_V216M exm1571314 21 41151092 [T/G] NM_001080444 IGSF5 EXON Missense_G265V exm1571315 21 41151122 [T/C] NM_001080444 IGSF5 EXON Missense_M275T exm1571320 21 41151163 [T/C] NM_001080444 IGSF5 EXON Missense_C289R exm1571321 21 41151166 [T/C] NM_001080444 IGSF5 EXON Missense_C290R exm1571328 21 41151203 [A/G] NM_001080444 IGSF5 EXON Missense_R302H exm1571331 21 41160099 [A/C] NM_001080444 IGSF5 EXON Missense_R314S exm1571345 21 41165462 [A/C] NM_001080444 IGSF5 EXON Missense_D350E exm1571346 21 41165466 [A/G] NM_001080444 IGSF5 EXON Missense_A352T exm1571351 21 41173190 [A/G] NM_001080444 IGSF5 EXON Missense_R377Q exm1571353 21 41173222 [T/C] NM_001080444 IGSF5 EXON Missense_H388Y exm1571358 21 41173282 [T/C] NM_001080444 IGSF5 EXON Missense_X408Q exm-rs2837352 21 41363778 [T/C] exm1571371 21 41385121 [T/C] NR_073202,NM_001271534,NM_001389 DSCAM,DSCAM,DSCAM EXON Silent,Missense_G1942E,Missense_G1960E exm1571381 21 41414420 [A/G] NR_073202,NM_001271534,NM_001389 DSCAM,DSCAM,DSCAM EXON Silent,Missense_T1855M,Missense_T1855M exm-rs9981861 21 41415044 [T/C] NR_073202,NM_001271534,NM_001389 DSCAM,DSCAM,DSCAM Silent,Silent,Silent exm1571399 21 41416119 [T/G] NR_073202,NM_001271534,NM_001389 DSCAM,DSCAM,DSCAM EXON Silent,Missense_P1757T,Missense_P1757T exm1571402 21 41416163 [A/G] NR_073202,NM_001271534,NM_001389 DSCAM,DSCAM,DSCAM EXON Silent,Missense_A1742V,Missense_A1742V exm2268372 21 41425831 [A/G] NR_073202,NM_001271534,NM_001389 DSCAM,DSCAM,DSCAM Silent,Silent,Silent exm1571431 21 41450656 [T/C] NR_073202,NM_001271534,NM_001389 DSCAM,DSCAM,DSCAM EXON Silent,Missense_A1557T,Missense_A1557T exm1571436 21 41450777 [A/C] NR_073202,NM_001271534,NM_001389 DSCAM,DSCAM,DSCAM EXON Silent,Missense_F1516L,Missense_F1516L exm1571457 21 41457598 [T/C] NR_073202,NM_001271534,NM_001389 DSCAM,DSCAM,DSCAM EXON Silent,Missense_G1355S,Missense_G1355S exm1571459 21 41457618 [A/G] NR_073202,NM_001271534,NM_001389 DSCAM,DSCAM,DSCAM EXON Silent,Missense_T1348M,Missense_T1348M exm1571464 21 41459205 [T/C] NR_073202,NM_001271534,NM_001389 DSCAM,DSCAM,DSCAM EXON Silent,Missense_R1287Q,Missense_R1287Q exm1571473 21 41465793 [A/G] NR_073202,NM_001271534,NM_001389 DSCAM,DSCAM,DSCAM EXON Silent,Synonymous_S1235S,Synonymous_S1235S exm2254626 21 41465793 [A/G] NR_073202,NM_001271534,NM_001389 DSCAM,DSCAM,DSCAM EXON Silent,Synonymous_S1235S,Synonymous_S1235S exm1571478 21 41496241 [T/C] NR_073202,NM_001271534,NM_001389 DSCAM,DSCAM,DSCAM EXON Silent,Missense_A1193T,Missense_A1193T exm1571516 21 41561045 [T/C] NR_073202,NM_001271534,NM_001389 DSCAM,DSCAM,DSCAM EXON Silent,Missense_R826Q,Missense_R826Q exm1571518 21 41561063 [A/C] NR_073202,NM_001271534,NM_001389 DSCAM,DSCAM,DSCAM EXON Silent,Missense_R820L,Missense_R820L exm2235017 21 41561129 [A/C] NR_073202,NM_001271534,NM_001389 DSCAM,DSCAM,DSCAM EXON Silent,Missense_L798R,Missense_L798R exm1571523 21 41648091 [T/G] NR_073202,NM_001271534,NM_001389 DSCAM,DSCAM,DSCAM EXON Silent,Nonsense_Y763X,Nonsense_Y763X exm1571524 21 41648111 [C/G] NR_073202,NM_001271534,NM_001389 DSCAM,DSCAM,DSCAM EXON Silent,Missense_V757L,Missense_V757L exm1571536 21 41668074 [T/C] NR_073202,NM_001271534,NM_001389 DSCAM,DSCAM,DSCAM EXON Silent,Missense_R697Q,Missense_R697Q exm1571541 21 41684167 [A/G] NR_073202,NM_001271534,NM_001389 DSCAM,DSCAM,DSCAM EXON Silent,Missense_R635W,Missense_R635W exm1571548 21 41710046 [T/C] NR_073202,NM_001271534,NM_001389 DSCAM,DSCAM,DSCAM EXON Silent,Missense_V589I,Missense_V589I exm1571576 21 41725407 [A/G] NR_073202,NM_001271534,NM_001389 DSCAM,DSCAM,DSCAM EXON Silent,Missense_R307C,Missense_R307C exm1571579 21 41725503 [T/C] NR_073202,NM_001271534,NM_001389 DSCAM,DSCAM,DSCAM EXON Silent,Missense_V275M,Missense_V275M exm1571585 21 41725625 [T/C] NR_073202,NM_001271534,NM_001389 DSCAM,DSCAM,DSCAM EXON Silent,Missense_R234H,Missense_R234H exm1571586 21 41725630 [G/C] NR_073202,NM_001271534,NM_001389 DSCAM,DSCAM,DSCAM EXON Silent,Missense_D232E,Missense_D232E exm2273009 21 41917406 [T/G] NR_073202,NM_001271534,NM_001389 DSCAM,DSCAM,DSCAM Silent,Silent,Silent exm2272985 21 42047446 [T/C] NR_073202,NM_001271534,NM_001389 DSCAM,DSCAM,DSCAM Silent,Silent,Silent exm2264731 21 42293410 [A/C] exm-rs2837960 21 42511918 [T/G] exm1571665 21 42551183 [A/G] NM_012105,NM_138991,NM_138992,NM_182832 BACE2,BACE2,BACE2,PLAC4 EXON Silent,Silent,Silent,Missense_P125S exm1982430 21 42551215 [A/G] NM_012105,NM_138991,NM_138992,NM_182832 BACE2,BACE2,BACE2,PLAC4 EXON Silent,Silent,Silent,Missense_T114I exm1571689 21 42551497 [G/C] NM_012105,NM_138991,NM_138992,NM_182832 BACE2,BACE2,BACE2,PLAC4 EXON Silent,Silent,Silent,Nonsense_S20X exm1571692 21 42551540 [A/G] NM_012105,NM_138991,NM_138992,NM_182832 BACE2,BACE2,BACE2,PLAC4 EXON Silent,Silent,Silent,Missense_R6C exm1571710 21 42613806 [A/G] NM_012105,NM_138991,NM_138992 BACE2,BACE2,BACE2 EXON Missense_V227I,Missense_V227I,Missense_V227I exm1571738 21 42647372 [A/G] NM_012105,NM_138991,NM_138992 BACE2,BACE2,BACE2 EXON Missense_A460T,Missense_A410T,Silent exm1571755 21 42694870 [A/G] NM_206964,NM_058186 FAM3B,FAM3B EXON Silent,Missense_V14M exm1571758 21 42694921 [A/C] NM_206964,NM_058186 FAM3B,FAM3B EXON Silent,Missense_L31I exm1571771 21 42717639 [T/C] NM_206964,NM_058186 FAM3B,FAM3B EXON Nonsense_R77X,Nonsense_R125X exm1571773 21 42717662 [T/C] NM_206964,NM_058186 FAM3B,FAM3B EXON Synonymous_G84G,Synonymous_G132G exm1982476 21 42717663 [A/G] NM_206964,NM_058186 FAM3B,FAM3B EXON Missense_D85N,Missense_D133N exm1571777 21 42718952 [T/C] NM_206964,NM_058186 FAM3B,FAM3B EXON Missense_P89L,Missense_P137L exm1571780 21 42719011 [A/G] NM_206964,NM_058186 FAM3B,FAM3B EXON Missense_D109N,Missense_D157N exm1571785 21 42720579 [A/G] NM_206964,NM_058186 FAM3B,FAM3B EXON Missense_M134I,Missense_M182I exm1571786 21 42720617 [A/G] NM_206964,NM_058186 FAM3B,FAM3B EXON Missense_G147D,Missense_G195D exm2275317 21 42729035 [T/A] NM_206964,NM_058186 FAM3B,FAM3B EXON Missense_I159F,Missense_I207F exm2235022 21 42729117 [A/G] NM_206964,NM_058186 FAM3B,FAM3B EXON Missense_R186Q,Missense_R234Q exm1571789 21 42748864 [T/C] NM_002463 MX2 EXON Missense_R11W exm1571794 21 42748889 [A/G] NM_002463 MX2 EXON Missense_R19Q exm1571795 21 42748934 [T/C] NM_002463 MX2 EXON Missense_P34L exm1571797 21 42748952 [T/C] NM_002463 MX2 EXON Missense_P40L exm1571800 21 42749021 [T/C] NM_002463 MX2 EXON Missense_F63S exm1571805 21 42749050 [C/G] NM_002463 MX2 EXON Missense_P73A exm1571806 21 42749081 [T/C] NM_002463 MX2 EXON Missense_M83T exm1982502 21 42752029 [T/C] NM_002463 MX2 EXON Synonymous_T176T exm1571827 21 42752030 [A/G] NM_002463 MX2 EXON Missense_E177K exm1571830 21 42754349 [T/C] NM_002463 MX2 EXON Missense_M197T exm1571831 21 42754354 [A/G] NM_002463 MX2 EXON Missense_G199R exm1571839 21 42754483 [A/G] NM_002463 MX2 EXON Missense_G242R exm1571845 21 42762528 [A/C] NM_002463 MX2 EXON Missense_Q257K exm2268394 21 42767133 [A/G] NM_002463 MX2 Silent exm1571866 21 42769619 [A/G] NM_002463 MX2 Silent exm1571870 21 42770878 [A/G] NM_002463 MX2 EXON Missense_E402K exm1571872 21 42770896 [A/G] NM_002463 MX2 EXON Missense_G408R exm1571882 21 42771237 [C/G] NM_002463 MX2 EXON Missense_G463R exm1982528 21 42775221 [A/T] NM_002463 MX2 EXON Missense_V534E exm1571915 21 42778854 [T/C] NM_002463 MX2 EXON Missense_H612Y exm1571926 21 42780068 [A/G] NM_002463 MX2 EXON Missense_A686T exm1982539 21 42803977 [T/C] NM_001144925,NM_002462,NM_001178046 MX1,MX1,MX1 EXON Silent,Silent,Silent exm1571950 21 42807955 [T/C] NM_001144925,NM_002462,NM_001178046 MX1,MX1,MX1 EXON Synonymous_S99S,Synonymous_S99S,Synonymous_S99S exm1982548 21 42809025 [A/G] NM_001144925,NM_002462,NM_001178046 MX1,MX1,MX1 EXON Missense_D128N,Missense_D128N,Missense_D128N exm1571962 21 42811635 [A/G] NM_001144925,NM_002462,NM_001178046 MX1,MX1,MX1 EXON Missense_A151T,Missense_A151T,Missense_A151T exm1571983 21 42813706 [A/G] NM_001144925,NM_002462,NM_001178046 MX1,MX1,MX1 EXON Missense_R265Q,Missense_R265Q,Missense_R265Q exm1982564 21 42813714 [A/G] NM_001144925,NM_002462,NM_001178046 MX1,MX1,MX1 EXON Missense_V268M,Missense_V268M,Missense_V268M exm1571988 21 42815731 [A/G] NM_001144925,NM_002462,NM_001178046 MX1,MX1,MX1 EXON Missense_G316R,Missense_G316R,Missense_G316R exm1571996 21 42817422 [T/A] NM_001144925,NM_002462,NM_001178046 MX1,MX1,MX1 EXON Missense_R352S,Missense_R352S,Missense_R352S exm1982570 21 42817482 [A/G] NM_001144925,NM_002462,NM_001178046 MX1,MX1,MX1 EXON Missense_M372I,Missense_M372I,Missense_M372I exm1572003 21 42817930 [A/G] NM_001144925,NM_002462,NM_001178046 MX1,MX1,MX1 EXON Missense_V379I,Missense_V379I,Missense_V379I exm1572013 21 42818018 [A/G] NM_001144925,NM_002462,NM_001178046 MX1,MX1,MX1 EXON Missense_R408Q,Missense_R408Q,Missense_R408Q exm1572015 21 42818050 [T/G] NM_001144925,NM_002462,NM_001178046 MX1,MX1,MX1 EXON Nonsense_E419X,Nonsense_E419X,Nonsense_E419X exm1572016 21 42818062 [A/C] NM_001144925,NM_002462,NM_001178046 MX1,MX1,MX1 EXON Missense_Q423K,Missense_Q423K,Missense_Q423K exm1572028 21 42821222 [A/G] NM_001144925,NM_002462,NM_001178046 MX1,MX1,MX1 EXON Missense_D478N,Missense_D478N,Missense_D478N exm1572038 21 42824579 [A/G] NM_001144925,NM_002462,NM_001178046 MX1,MX1,MX1 EXON Missense_E514G,Missense_E514G,Missense_E514G exm1572039 21 42824602 [T/C] NM_001144925,NM_002462,NM_001178046 MX1,MX1,MX1 EXON Missense_R522C,Missense_R522C,Missense_R522C exm1572054 21 42830468 [A/G] NM_001144925,NM_002462,NM_001178046 MX1,MX1,MX1 EXON Missense_R591H,Missense_R591H,Missense_R591H exm2235027 21 42830471 [T/G] NM_001144925,NM_002462,NM_001178046 MX1,MX1,MX1 EXON Missense_I592S,Missense_I592S,Missense_I592S exm1572059 21 42830529 [T/G] NM_001144925,NM_002462,NM_001178046 MX1,MX1,MX1 EXON Missense_Q611H,Missense_Q611H,Missense_Q611H exm1572062 21 42830597 [C/G] NM_001144925,NM_002462,NM_001178046 MX1,MX1,MX1 EXON Missense_S634T,Missense_S634T,Missense_S634T exm2275172 21 42830623 [G/C] NM_001144925,NM_002462,NM_001178046 MX1,MX1,MX1 EXON Missense_L643V,Missense_L643V,Missense_L643V exm1982585 21 42830660 [A/G] NM_001144925,NM_002462,NM_001178046 MX1,MX1,MX1 EXON Missense_R655H,Missense_R655H,Missense_R655H exm1572076 21 42839661 [T/C] NM_005656,NM_001135099 TMPRSS2,TMPRSS2 EXON Synonymous_R489R,Synonymous_R526R exm1572089 21 42840394 [T/C] NM_005656,NM_001135099 TMPRSS2,TMPRSS2 EXON Missense_V415I,Missense_V452I exm1572100 21 42842623 [A/G] NM_005656,NM_001135099 TMPRSS2,TMPRSS2 EXON Missense_P375S,Missense_P412S exm1572102 21 42843734 [A/G] NM_005656,NM_001135099 TMPRSS2,TMPRSS2 EXON Synonymous_N358N,Synonymous_N395N exm1572104 21 42843810 [T/G] NM_005656,NM_001135099 TMPRSS2,TMPRSS2 EXON Missense_S333Y,Missense_S370Y exm1572132 21 42848546 [A/C] NM_005656,NM_001135099 TMPRSS2,TMPRSS2 EXON Missense_D229Y,Missense_D266Y exm-rs2094881 21 42848835 [T/C] NM_005656,NM_001135099 TMPRSS2,TMPRSS2 Silent,Silent exm1572142 21 42851157 [A/T] NM_005656,NM_001135099 TMPRSS2,TMPRSS2 EXON Missense_F209I,Missense_F246I exm1572153 21 42852497 [T/C] NM_005656,NM_001135099 TMPRSS2,TMPRSS2 EXON Missense_V160M,Missense_V197M exm1572172 21 42861487 [T/A] NM_005656,NM_001135099 TMPRSS2,TMPRSS2 EXON Missense_L91Q,Missense_L128Q exm1572176 21 42866297 [A/G] NM_005656,NM_001135099 TMPRSS2,TMPRSS2 EXON Missense_T75I,Missense_T112I exm1572178 21 42866301 [T/C] NM_005656,NM_001135099 TMPRSS2,TMPRSS2 EXON Missense_G74R,Missense_G111R exm1572180 21 42866328 [T/C] NM_005656,NM_001135099 TMPRSS2,TMPRSS2 EXON Missense_V65I,Missense_V102I exm1982616 21 42866388 [A/C] NM_005656,NM_001135099 TMPRSS2,TMPRSS2 EXON Missense_Y45D,Missense_Y82D exm1572188 21 42866399 [A/G] NM_005656,NM_001135099 TMPRSS2,TMPRSS2 EXON Missense_P41L,Missense_P78L exm1982617 21 42866423 [A/G] NM_005656,NM_001135099 TMPRSS2,TMPRSS2 EXON Missense_V33A,Missense_V70A exm1572194 21 42866439 [T/C] NM_005656,NM_001135099 TMPRSS2,TMPRSS2 EXON Missense_A28T,Missense_A65T exm1572198 21 42866468 [T/C] NM_005656,NM_001135099 TMPRSS2,TMPRSS2 EXON Missense_H18R,Missense_H55R exm2272986 21 42896828 [T/C] exm1572230 21 43161014 [T/C] NM_020639 RIPK4 EXON Missense_R780Q exm1572235 21 43161030 [T/C] NM_020639 RIPK4 EXON Missense_A775T exm1982628 21 43161057 [C/G] NM_020639 RIPK4 EXON Missense_L766V exm1572263 21 43161345 [T/C] NM_020639 RIPK4 EXON Missense_G670S exm1572266 21 43161357 [T/C] NM_020639 RIPK4 EXON Missense_M666V exm1572276 21 43161468 [T/C] NM_020639 RIPK4 EXON Missense_D629N exm1572286 21 43161597 [T/C] NM_020639 RIPK4 EXON Missense_V586I exm2275173 21 43161813 [A/T] NM_020639 RIPK4 EXON Missense_N514Y exm2254636 21 43161877 [T/C] NM_020639 RIPK4 EXON Synonymous_A492A exm1572314 21 43162110 [T/C] NM_020639 RIPK4 EXON Missense_V415M exm2254637 21 43162150 [A/G] NM_020639 RIPK4 EXON Synonymous_G401G exm1572319 21 43162155 [G/C] NM_020639 RIPK4 EXON Missense_L400V exm1572330 21 43164137 [A/C] NM_020639 RIPK4 EXON Missense_S367I exm1572390 21 43176744 [C/G] NM_020639 RIPK4 EXON Missense_L139V exm1572396 21 43176830 [A/G] NM_020639 RIPK4 EXON Missense_S110L exm1572403 21 43176894 [A/G] NM_020639 RIPK4 EXON Missense_R89C exm1572410 21 43187113 [A/G] NM_020639 RIPK4 EXON Missense_S30L exm1572414 21 43187167 [C/G] NM_020639 RIPK4 EXON Missense_A12G exm1572424 21 43221483 [A/G] NM_001040424,NM_022115 PRDM15,PRDM15 EXON Missense_S1152P,Missense_S1481P exm1572437 21 43221699 [T/C] NM_001040424,NM_022115 PRDM15,PRDM15 EXON Missense_V1080M,Missense_V1409M exm1572445 21 43221797 [G/C] NM_001040424,NM_022115 PRDM15,PRDM15 EXON Missense_T1047S,Missense_T1376S exm2235032 21 43222889 [T/C] NM_001040424,NM_022115 PRDM15,PRDM15 EXON Missense_V1013I,Missense_V1342I exm-rs7279297 21 43227915 [A/G] NM_001040424,NM_022115 PRDM15,PRDM15 Silent,Silent exm1982695 21 43230630 [T/C] NM_001040424,NM_022115 PRDM15,PRDM15 EXON Missense_M881I,Missense_M1210I exm1572486 21 43231191 [T/C] NM_001040424,NM_022115 PRDM15,PRDM15 EXON Synonymous_G835G,Synonymous_G1164G exm1572494 21 43236119 [G/C] NM_001040424,NM_022115 PRDM15,PRDM15 EXON Missense_E815D,Missense_E1144D exm2235034 21 43241542 [G/C] NM_001040424,NM_022115 PRDM15,PRDM15 EXON Missense_E684D,Missense_E1013D exm1572522 21 43242347 [T/C] NM_001040424,NM_022115 PRDM15,PRDM15 EXON Missense_K640R,Missense_K969R exm1572531 21 43246336 [T/C] NM_001040424,NM_022115 PRDM15,PRDM15 EXON Missense_G574R,Missense_G903R exm1572534 21 43246366 [T/C] NM_001040424,NM_022115 PRDM15,PRDM15 EXON Missense_N564D,Missense_N893D exm1572545 21 43255606 [T/C] NM_001040424,NM_022115 PRDM15,PRDM15 EXON Missense_G473S,Missense_G802S exm1982747 21 43258052 [A/G] NM_001040424,NM_022115 PRDM15,PRDM15 EXON Missense_S368L,Missense_S697L exm1572573 21 43259761 [A/G] NM_001040424,NM_022115 PRDM15,PRDM15 EXON Missense_L318P,Missense_L647P exm1572583 21 43259911 [T/C] NM_001040424,NM_022115 PRDM15,PRDM15 EXON Missense_Q268R,Missense_Q597R exm2235036 21 43267264 [A/G] NM_001040424,NM_022115 PRDM15,PRDM15 EXON Missense_S229L,Missense_S558L exm1572593 21 43267277 [T/C] NM_001040424,NM_022115 PRDM15,PRDM15 EXON Missense_A225T,Missense_A554T exm1572596 21 43274690 [T/C] NM_001040424,NM_022115 PRDM15,PRDM15 EXON Missense_G212S,Missense_G541S exm1572597 21 43274693 [T/C] NM_001040424,NM_022115 PRDM15,PRDM15 EXON Missense_A211T,Missense_A540T exm1572631 21 43279273 [T/C] NM_001040424,NM_022115 PRDM15,PRDM15 EXON Silent,Missense_R366G exm1572638 21 43279329 [A/G] NM_001040424,NM_022115 PRDM15,PRDM15 EXON Silent,Missense_P347L exm1572652 21 43281673 [A/G] NM_001040424,NM_022115 PRDM15,PRDM15 EXON Silent,Missense_P297L exm1982772 21 43281687 [C/G] NM_001040424,NM_022115 PRDM15,PRDM15 EXON Silent,Missense_C292W exm1572653 21 43281709 [A/G] NM_001040424,NM_022115 PRDM15,PRDM15 EXON Silent,Missense_T285M exm1572654 21 43281767 [A/C] NM_001040424,NM_022115 PRDM15,PRDM15 EXON Silent,Missense_V266L exm1572666 21 43282090 [T/C] NM_001040424,NM_022115 PRDM15,PRDM15 EXON Silent,Missense_G216S exm1572670 21 43282108 [T/C] NM_001040424,NM_022115 PRDM15,PRDM15 EXON Silent,Missense_A210T exm1572682 21 43291623 [C/G] NM_001040424,NM_022115 PRDM15,PRDM15 EXON Silent,Missense_R174P exm1572686 21 43291641 [A/G] NM_001040424,NM_022115 PRDM15,PRDM15 EXON Silent,Missense_A168V exm1572691 21 43291711 [T/C] NM_001040424,NM_022115 PRDM15,PRDM15 EXON Silent,Missense_R145G exm1572714 21 43299443 [T/C] NM_001040424,NM_022115 PRDM15,PRDM15 EXON Missense_Q13R,Missense_Q13R exm1572726 21 43309411 [T/C] NM_015500,NM_199050 C2CD2,C2CD2 EXON Missense_R638Q,Missense_R483Q exm1572729 21 43319180 [T/C] NM_015500,NM_199050 C2CD2,C2CD2 EXON Missense_T618A,Missense_T463A exm1572731 21 43319185 [A/G] NM_015500,NM_199050 C2CD2,C2CD2 EXON Missense_P616L,Missense_P461L exm1572751 21 43319425 [A/G] NM_015500,NM_199050 C2CD2,C2CD2 EXON Missense_T536M,Missense_T381M exm1572756 21 43321763 [T/C] NM_015500,NM_199050 C2CD2,C2CD2 EXON Missense_K510E,Missense_K355E exm1572767 21 43325863 [T/C] NM_015500,NM_199050 C2CD2,C2CD2 EXON Missense_V468I,Missense_V313I exm1572780 21 43327167 [T/G] NM_015500,NM_199050 C2CD2,C2CD2 EXON Missense_T418P,Missense_T263P exm1572781 21 43327197 [A/G] NM_015500,NM_199050 C2CD2,C2CD2 EXON Missense_R408C,Missense_R253C exm1572785 21 43327810 [A/T] NM_015500,NM_199050 C2CD2,C2CD2 EXON Missense_S368T,Missense_S213T exm1572817 21 43338260 [A/G] NM_015500,NM_199050 C2CD2,C2CD2 EXON Missense_P225L,Missense_P70L exm1572818 21 43338302 [A/G] NM_015500,NM_199050 C2CD2,C2CD2 EXON Missense_V211A,Missense_V56A exm1572820 21 43338310 [T/C] NM_015500,NM_199050 C2CD2,C2CD2 EXON Missense_M208I,Missense_M53I exm1572828 21 43339049 [A/C] NM_015500,NM_199050 C2CD2,C2CD2 EXON Missense_E171D,Missense_E16D exm1572848 21 43362269 [A/G] NM_015500 C2CD2 EXON Missense_S122L exm2254641 21 43362295 [T/C] NM_015500 C2CD2 EXON Synonymous_V113V exm2254642 21 43362322 [T/C] NM_015500 C2CD2 EXON Synonymous_P104P exm1572855 21 43373522 [G/C] NM_015500 C2CD2 EXON Missense_A79G exm1572865 21 43411171 [T/C] NM_001098402,NM_001098403,NM_020727 ZBTB21,ZBTB21,ZBTB21 EXON Missense_T1012A,Missense_T811A,Missense_T1012A exm1572888 21 43411551 [T/G] NM_001098402,NM_001098403,NM_020727 ZBTB21,ZBTB21,ZBTB21 EXON Missense_E885A,Missense_E684A,Missense_E885A exm1572894 21 43411632 [A/G] NM_001098402,NM_001098403,NM_020727 ZBTB21,ZBTB21,ZBTB21 EXON Missense_S858L,Missense_S657L,Missense_S858L exm1572918 21 43412074 [A/G] NM_001098402,NM_001098403,NM_020727 ZBTB21,ZBTB21,ZBTB21 EXON Missense_P711S,Silent,Missense_P711S exm1572935 21 43412640 [C/G] NM_001098402,NM_001098403,NM_020727 ZBTB21,ZBTB21,ZBTB21 EXON Missense_A522G,Missense_A522G,Missense_A522G exm2235038 21 43412667 [T/C] NM_001098402,NM_001098403,NM_020727 ZBTB21,ZBTB21,ZBTB21 EXON Missense_E513G,Missense_E513G,Missense_E513G exm1572947 21 43412848 [T/C] NM_001098402,NM_001098403,NM_020727 ZBTB21,ZBTB21,ZBTB21 EXON Missense_T453A,Missense_T453A,Missense_T453A exm1572948 21 43412853 [A/G] NM_001098402,NM_001098403,NM_020727 ZBTB21,ZBTB21,ZBTB21 EXON Missense_A451V,Missense_A451V,Missense_A451V exm1572956 21 43412991 [T/C] NM_001098402,NM_001098403,NM_020727 ZBTB21,ZBTB21,ZBTB21 EXON Missense_H405R,Missense_H405R,Missense_H405R exm1572966 21 43413219 [A/G] NM_001098402,NM_001098403,NM_020727 ZBTB21,ZBTB21,ZBTB21 EXON Missense_I329T,Missense_I329T,Missense_I329T exm1572972 21 43413318 [T/C] NM_001098402,NM_001098403,NM_020727 ZBTB21,ZBTB21,ZBTB21 EXON Missense_N296S,Missense_N296S,Missense_N296S exm1572977 21 43413451 [T/C] NM_001098402,NM_001098403,NM_020727 ZBTB21,ZBTB21,ZBTB21 EXON Missense_M252V,Missense_M252V,Missense_M252V exm1572978 21 43413459 [A/C] NM_001098402,NM_001098403,NM_020727 ZBTB21,ZBTB21,ZBTB21 EXON Missense_R249I,Missense_R249I,Missense_R249I exm2254643 21 43413515 [A/G] NM_001098402,NM_001098403,NM_020727 ZBTB21,ZBTB21,ZBTB21 EXON Synonymous_N230N,Synonymous_N230N,Synonymous_N230N exm1572982 21 43413553 [T/G] NM_001098402,NM_001098403,NM_020727 ZBTB21,ZBTB21,ZBTB21 EXON Missense_K218Q,Missense_K218Q,Missense_K218Q exm1572983 21 43413579 [A/G] NM_001098402,NM_001098403,NM_020727 ZBTB21,ZBTB21,ZBTB21 EXON Missense_P209L,Missense_P209L,Missense_P209L exm1572984 21 43413631 [T/G] NM_001098402,NM_001098403,NM_020727 ZBTB21,ZBTB21,ZBTB21 EXON Missense_P192T,Missense_P192T,Missense_P192T exm1572985 21 43413651 [T/C] NM_001098402,NM_001098403,NM_020727 ZBTB21,ZBTB21,ZBTB21 EXON Missense_N185S,Missense_N185S,Missense_N185S exm1572999 21 43413823 [T/C] NM_001098402,NM_001098403,NM_020727 ZBTB21,ZBTB21,ZBTB21 EXON Missense_T128A,Missense_T128A,Missense_T128A exm1573003 21 43414048 [T/C] NM_001098402,NM_001098403,NM_020727 ZBTB21,ZBTB21,ZBTB21 EXON Missense_E53K,Missense_E53K,Missense_E53K exm-rs2187239 21 43420555 [A/C] NM_001098402,NM_001098403,NM_020727 ZBTB21,ZBTB21,ZBTB21 Silent,Silent,Silent exm2273010 21 43459172 [T/C] exm1573042 21 43496247 [A/C] NM_001199527,NM_001199528,NM_173568,NM_001004416 UMODL1,UMODL1,UMODL1,UMODL1 EXON Silent,Silent,Nonsense_C70X,Nonsense_C70X exm2275174 21 43496273 [A/G] NM_001199527,NM_001199528,NM_173568,NM_001004416 UMODL1,UMODL1,UMODL1,UMODL1 EXON Missense_Y7C,Missense_Y7C,Missense_Y79C,Missense_Y79C exm1573044 21 43496282 [T/C] NM_001199527,NM_001199528,NM_173568,NM_001004416 UMODL1,UMODL1,UMODL1,UMODL1 EXON Missense_V10A,Missense_V10A,Missense_V82A,Missense_V82A exm1573046 21 43496305 [A/G] NM_001199527,NM_001199528,NM_173568,NM_001004416 UMODL1,UMODL1,UMODL1,UMODL1 EXON Missense_V18M,Missense_V18M,Missense_V90M,Missense_V90M exm1573047 21 43496329 [A/G] NM_001199527,NM_001199528,NM_173568,NM_001004416 UMODL1,UMODL1,UMODL1,UMODL1 EXON Missense_E26K,Missense_E26K,Missense_E98K,Missense_E98K exm1573048 21 43496339 [A/G] NM_001199527,NM_001199528,NM_173568,NM_001004416 UMODL1,UMODL1,UMODL1,UMODL1 EXON Missense_G29D,Missense_G29D,Missense_G101D,Missense_G101D exm1573049 21 43496358 [T/C] NM_001199527,NM_001199528,NM_173568,NM_001004416 UMODL1,UMODL1,UMODL1,UMODL1 Silent,Silent,Silent,Silent exm1573051 21 43504194 [A/C] NM_001199527,NM_001199528,NM_173568,NM_001004416 UMODL1,UMODL1,UMODL1,UMODL1 EXON Missense_P35H,Missense_P35H,Missense_P107H,Missense_P107H exm1573054 21 43504211 [T/C] NM_001199527,NM_001199528,NM_173568,NM_001004416 UMODL1,UMODL1,UMODL1,UMODL1 EXON Nonsense_Q41X,Nonsense_Q41X,Nonsense_Q113X,Nonsense_Q113X exm1573057 21 43504241 [A/G] NM_001199527,NM_001199528,NM_173568,NM_001004416 UMODL1,UMODL1,UMODL1,UMODL1 EXON Missense_A51T,Missense_A51T,Missense_A123T,Missense_A123T exm1573059 21 43504269 [G/C] NM_001199527,NM_001199528,NM_173568,NM_001004416 UMODL1,UMODL1,UMODL1,UMODL1 EXON Missense_P60R,Missense_P60R,Missense_P132R,Missense_P132R exm1573060 21 43504286 [A/G] NM_001199527,NM_001199528,NM_173568,NM_001004416 UMODL1,UMODL1,UMODL1,UMODL1 EXON Missense_D66N,Missense_D66N,Missense_D138N,Missense_D138N exm1573061 21 43504298 [T/C] NM_001199527,NM_001199528,NM_173568,NM_001004416 UMODL1,UMODL1,UMODL1,UMODL1 EXON Missense_L70F,Missense_L70F,Missense_L142F,Missense_L142F exm1573065 21 43505436 [A/G] NM_001199527,NM_001199528,NM_173568,NM_001004416 UMODL1,UMODL1,UMODL1,UMODL1 EXON Missense_V101I,Missense_V101I,Missense_V173I,Missense_V173I exm1573067 21 43505500 [A/G] NM_001199527,NM_001199528,NM_173568,NM_001004416 UMODL1,UMODL1,UMODL1,UMODL1 EXON Missense_H122R,Missense_H122R,Missense_H194R,Missense_H194R exm1573079 21 43508507 [A/G] NM_001199527,NM_001199528,NM_173568,NM_001004416 UMODL1,UMODL1,UMODL1,UMODL1 EXON Missense_R164Q,Missense_R164Q,Missense_R236Q,Missense_R236Q exm2254644 21 43510427 [T/C] NM_001199527,NM_001199528,NM_173568,NM_001004416 UMODL1,UMODL1,UMODL1,UMODL1 EXON Synonymous_Y198Y,Synonymous_Y198Y,Synonymous_Y270Y,Synonymous_Y270Y exm2277202 21 43510437 [A/G] NM_001199527,NM_001199528,NM_173568,NM_001004416 UMODL1,UMODL1,UMODL1,UMODL1 EXON Missense_N202D,Missense_N202D,Missense_N274D,Missense_N274D exm1573085 21 43510437 [A/C] NM_001199527,NM_001199528,NM_173568,NM_001004416 UMODL1,UMODL1,UMODL1,UMODL1 EXON Missense_N202H,Missense_N202H,Missense_N274H,Missense_N274H exm1573094 21 43519059 [A/G] NM_001199527,NM_001199528,NM_173568,NM_001004416 UMODL1,UMODL1,UMODL1,UMODL1 EXON Missense_V247M,Missense_V247M,Missense_V319M,Missense_V319M exm1573096 21 43519065 [T/C] NM_001199527,NM_001199528,NM_173568,NM_001004416 UMODL1,UMODL1,UMODL1,UMODL1 EXON Missense_L249F,Missense_L249F,Missense_L321F,Missense_L321F exm1573103 21 43519168 [A/G] NM_001199527,NM_001199528,NM_173568,NM_001004416 UMODL1,UMODL1,UMODL1,UMODL1 EXON Missense_S283N,Missense_S283N,Missense_S355N,Missense_S355N exm1573106 21 43519254 [A/G] NM_001199527,NM_001199528,NM_173568,NM_001004416 UMODL1,UMODL1,UMODL1,UMODL1 EXON Missense_G312R,Missense_G312R,Missense_G384R,Missense_G384R exm1573109 21 43519273 [T/C] NM_001199527,NM_001199528,NM_173568,NM_001004416 UMODL1,UMODL1,UMODL1,UMODL1 EXON Missense_T318M,Missense_T318M,Missense_T390M,Missense_T390M exm1573113 21 43522387 [A/G] NM_001199527,NM_001199528,NM_173568,NM_001004416,NR_027243 UMODL1,UMODL1,UMODL1,UMODL1,C21orf128 EXON Missense_E361G,Missense_E361G,Missense_E433G,Missense_E433G,Silent exm1573128 21 43524018 [A/G] NM_001199527,NM_001199528,NM_173568,NM_001004416,NR_027243 UMODL1,UMODL1,UMODL1,UMODL1,C21orf128 EXON Missense_R375Q,Missense_R375Q,Missense_R447Q,Missense_R447Q,Silent exm1573130 21 43524044 [A/G] NM_001199527,NM_001199528,NM_173568,NM_001004416,NR_027243 UMODL1,UMODL1,UMODL1,UMODL1,C21orf128 EXON Missense_V384M,Missense_V384M,Missense_V456M,Missense_V456M,Silent exm1573131 21 43524057 [T/C] NM_001199527,NM_001199528,NM_173568,NM_001004416,NR_027243 UMODL1,UMODL1,UMODL1,UMODL1,C21orf128 EXON Missense_A388V,Missense_A388V,Missense_A460V,Missense_A460V,Silent exm1573139 21 43524189 [A/G] NM_001199527,NM_001199528,NM_173568,NM_001004416,NR_027243 UMODL1,UMODL1,UMODL1,UMODL1,C21orf128 EXON Missense_R432H,Missense_R432H,Missense_R504H,Missense_R504H,Silent exm1573153 21 43529749 [A/C] NM_001199527,NM_001199528,NM_173568,NM_001004416 UMODL1,UMODL1,UMODL1,UMODL1 EXON Missense_T461P,Missense_T461P,Missense_T533P,Missense_T533P exm1573155 21 43529776 [A/G] NM_001199527,NM_001199528,NM_173568,NM_001004416 UMODL1,UMODL1,UMODL1,UMODL1 EXON Missense_A470T,Missense_A470T,Missense_A542T,Missense_A542T exm1573162 21 43531008 [T/C] NM_001199527,NM_001199528,NM_173568,NM_001004416 UMODL1,UMODL1,UMODL1,UMODL1 EXON Missense_M487T,Missense_M487T,Missense_M559T,Missense_M559T exm1573163 21 43531009 [A/G] NM_001199527,NM_001199528,NM_173568,NM_001004416 UMODL1,UMODL1,UMODL1,UMODL1 EXON Missense_M487I,Missense_M487I,Missense_M559I,Missense_M559I exm1573165 21 43531041 [T/C] NM_001199527,NM_001199528,NM_173568,NM_001004416 UMODL1,UMODL1,UMODL1,UMODL1 EXON Missense_T498M,Missense_T498M,Missense_T570M,Missense_T570M exm1573168 21 43531076 [A/G] NM_001199527,NM_001199528,NM_173568,NM_001004416 UMODL1,UMODL1,UMODL1,UMODL1 EXON Missense_G510S,Missense_G510S,Missense_G582S,Missense_G582S exm1573169 21 43531085 [T/A] NM_001199527,NM_001199528,NM_173568,NM_001004416 UMODL1,UMODL1,UMODL1,UMODL1 EXON Missense_N513Y,Missense_N513Y,Missense_N585Y,Missense_N585Y exm1573177 21 43531248 [T/C] NM_001199527,NM_001199528,NM_173568,NM_001004416 UMODL1,UMODL1,UMODL1,UMODL1 EXON Missense_P567L,Silent,Missense_P639L,Silent exm1573179 21 43531264 [C/G] NM_001199527,NM_001199528,NM_173568,NM_001004416 UMODL1,UMODL1,UMODL1,UMODL1 EXON Missense_D572E,Silent,Missense_D644E,Silent exm1573197 21 43531494 [T/C] NM_001199527,NM_001199528,NM_173568,NM_001004416 UMODL1,UMODL1,UMODL1,UMODL1 EXON Missense_A649V,Silent,Missense_A721V,Silent exm1573202 21 43531553 [A/C] NM_001199527,NM_001199528,NM_173568,NM_001004416 UMODL1,UMODL1,UMODL1,UMODL1 EXON Missense_T669P,Silent,Missense_T741P,Silent exm1573203 21 43531568 [A/G] NM_001199527,NM_001199528,NM_173568,NM_001004416 UMODL1,UMODL1,UMODL1,UMODL1 EXON Missense_S674G,Silent,Missense_S746G,Silent exm1573205 21 43531632 [T/C] NM_001199527,NM_001199528,NM_173568,NM_001004416 UMODL1,UMODL1,UMODL1,UMODL1 EXON Missense_I695T,Missense_I567T,Missense_I767T,Missense_I639T exm1573207 21 43531651 [T/G] NM_001199527,NM_001199528,NM_173568,NM_001004416 UMODL1,UMODL1,UMODL1,UMODL1 EXON Missense_W701C,Missense_W573C,Missense_W773C,Missense_W645C exm1573208 21 43531659 [T/C] NM_001199527,NM_001199528,NM_173568,NM_001004416 UMODL1,UMODL1,UMODL1,UMODL1 EXON Missense_P704L,Missense_P576L,Missense_P776L,Missense_P648L exm1573209 21 43531669 [A/C] NM_001199527,NM_001199528,NM_173568,NM_001004416 UMODL1,UMODL1,UMODL1,UMODL1 EXON Missense_D707E,Missense_D579E,Missense_D779E,Missense_D651E exm1573214 21 43531731 [T/C] NM_001199527,NM_001199528,NM_173568,NM_001004416 UMODL1,UMODL1,UMODL1,UMODL1 EXON Missense_T728M,Missense_T600M,Missense_T800M,Missense_T672M exm1573224 21 43533797 [T/C] NM_001199527,NM_001199528,NM_173568,NM_001004416 UMODL1,UMODL1,UMODL1,UMODL1 EXON Missense_M796T,Missense_M668T,Missense_M868T,Missense_M740T exm1573228 21 43533858 [T/G] NM_001199527,NM_001199528,NM_173568,NM_001004416 UMODL1,UMODL1,UMODL1,UMODL1 EXON Missense_E816D,Missense_E688D,Missense_E888D,Missense_E760D exm1573229 21 43533913 [A/G] NM_001199527,NM_001199528,NM_173568,NM_001004416 UMODL1,UMODL1,UMODL1,UMODL1 EXON Missense_A835T,Missense_A707T,Missense_A907T,Missense_A779T exm1573230 21 43535986 [T/C] NM_001199527,NM_001199528,NM_173568,NM_001004416 UMODL1,UMODL1,UMODL1,UMODL1 EXON Missense_A845V,Missense_A717V,Missense_A917V,Missense_A789V exm1573231 21 43535988 [T/C] NM_001199527,NM_001199528,NM_173568,NM_001004416 UMODL1,UMODL1,UMODL1,UMODL1 EXON Missense_R846W,Missense_R718W,Missense_R918W,Missense_R790W exm1573232 21 43535989 [A/G] NM_001199527,NM_001199528,NM_173568,NM_001004416 UMODL1,UMODL1,UMODL1,UMODL1 EXON Missense_R846Q,Missense_R718Q,Missense_R918Q,Missense_R790Q exm1573244 21 43539221 [G/C] NM_001199527,NM_001199528,NM_173568,NM_001004416 UMODL1,UMODL1,UMODL1,UMODL1 EXON Missense_V882L,Missense_V754L,Missense_V954L,Missense_V826L exm1573248 21 43539287 [A/G] NM_001199527,NM_001199528,NM_173568,NM_001004416 UMODL1,UMODL1,UMODL1,UMODL1 EXON Missense_V904I,Missense_V776I,Missense_V976I,Missense_V848I exm1573249 21 43539293 [A/G] NM_001199527,NM_001199528,NM_173568,NM_001004416 UMODL1,UMODL1,UMODL1,UMODL1 EXON Missense_V906I,Missense_V778I,Missense_V978I,Missense_V850I exm1573258 21 43541198 [T/G] NM_001199527,NM_001199528,NM_173568,NM_001004416 UMODL1,UMODL1,UMODL1,UMODL1 EXON Missense_D953E,Missense_D825E,Missense_D1025E,Missense_D897E exm1573259 21 43541204 [T/G] NM_001199527,NM_001199528,NM_173568,NM_001004416 UMODL1,UMODL1,UMODL1,UMODL1 EXON Missense_D955E,Missense_D827E,Missense_D1027E,Missense_D899E exm1573267 21 43542975 [A/C] NM_001199527,NM_001199528,NM_173568,NM_001004416 UMODL1,UMODL1,UMODL1,UMODL1 EXON Missense_S1010R,Missense_S882R,Missense_S1082R,Missense_S954R exm1573271 21 43543058 [A/G] NM_001199527,NM_001199528,NM_173568,NM_001004416 UMODL1,UMODL1,UMODL1,UMODL1 EXON Missense_R1038Q,Missense_R910Q,Missense_R1110Q,Missense_R982Q exm-IND21-42416183 21 43543115 [I/D] NM_001199527,NM_001199528,NM_173568,NM_001004416 UMODL1,UMODL1,UMODL1,UMODL1 EXON exm1573279 21 43543193 [A/G] NM_001199527,NM_001199528,NM_173568,NM_001004416 UMODL1,UMODL1,UMODL1,UMODL1 EXON Missense_S1083N,Missense_S955N,Missense_S1155N,Missense_S1027N exm1573280 21 43543261 [A/G] NM_001199527,NM_001199528,NM_173568,NM_001004416 UMODL1,UMODL1,UMODL1,UMODL1 Silent,Silent,Silent,Silent exm1573283 21 43546473 [A/G] NM_001199527,NM_001199528,NM_173568,NM_001004416 UMODL1,UMODL1,UMODL1,UMODL1 EXON Missense_V1112M,Missense_V984M,Missense_V1184M,Missense_V1056M exm1982934 21 43546483 [A/C] NM_001199527,NM_001199528,NM_173568,NM_001004416 UMODL1,UMODL1,UMODL1,UMODL1 EXON Missense_T1115K,Missense_T987K,Missense_T1187K,Missense_T1059K exm1573288 21 43546509 [A/G] NM_001199527,NM_001199528,NM_173568,NM_001004416 UMODL1,UMODL1,UMODL1,UMODL1 EXON Missense_G1124S,Missense_G996S,Missense_G1196S,Missense_G1068S exm1573294 21 43547117 [A/G] NM_001199527,NM_001199528,NM_173568,NM_001004416 UMODL1,UMODL1,UMODL1,UMODL1 EXON Missense_V1155I,Missense_V1027I,Missense_V1227I,Missense_V1099I exm1573297 21 43547147 [A/G] NM_001199527,NM_001199528,NM_173568,NM_001004416 UMODL1,UMODL1,UMODL1,UMODL1 EXON Missense_A1165T,Missense_A1037T,Missense_A1237T,Missense_A1109T exm1573300 21 43547165 [A/G] NM_001199527,NM_001199528,NM_173568,NM_001004416 UMODL1,UMODL1,UMODL1,UMODL1 EXON Missense_E1171K,Missense_E1043K,Missense_E1243K,Missense_E1115K exm1573309 21 43547255 [A/G] NM_001199527,NM_001199528,NM_173568,NM_001004416 UMODL1,UMODL1,UMODL1,UMODL1 EXON Missense_R1201G,Missense_R1073G,Missense_R1273G,Missense_R1145G exm1573312 21 43547319 [A/G] NM_001199527,NM_001199528,NM_173568,NM_001004416 UMODL1,UMODL1,UMODL1,UMODL1 EXON Missense_R1222Q,Missense_R1094Q,Missense_R1294Q,Missense_R1166Q exm1573322 21 43547856 [A/T] NM_001199527,NM_001199528,NM_173568,NM_001004416 UMODL1,UMODL1,UMODL1,UMODL1 EXON Missense_I1258N,Missense_I1130N,Missense_I1330N,Missense_I1202N exm1573329 21 43547927 [C/G] NM_001199527,NM_001199528,NM_173568,NM_001004416 UMODL1,UMODL1,UMODL1,UMODL1 EXON Missense_A1282P,Missense_A1154P,Missense_A1354P,Missense_A1226P exm1573339 21 43557584 [A/G] NM_001199527,NM_001199528,NM_173568,NM_001004416 UMODL1,UMODL1,UMODL1,UMODL1 EXON Missense_G1327S,Missense_G1199S,Missense_G1399S,Missense_G1271S exm1573343 21 43557627 [T/C] NM_001199527,NM_001199528,NM_173568,NM_001004416 UMODL1,UMODL1,UMODL1,UMODL1 EXON Missense_A1341V,Missense_A1213V,Missense_A1413V,Missense_A1285V exm1573350 21 43557662 [A/G] NM_001199527,NM_001199528,NM_173568,NM_001004416 UMODL1,UMODL1,UMODL1,UMODL1 EXON Missense_R1353G,Missense_R1225G,Missense_R1425G,Missense_R1297G exm1573353 21 43557698 [A/C] NM_001199527,NM_001199528,NM_173568,NM_001004416 UMODL1,UMODL1,UMODL1,UMODL1 EXON Missense_N1365H,Missense_N1237H,Missense_N1437H,Missense_N1309H exm1573354 21 43557707 [A/G] NM_001199527,NM_001199528,NM_173568,NM_001004416 UMODL1,UMODL1,UMODL1,UMODL1 EXON Missense_S1368G,Missense_S1240G,Missense_S1440G,Missense_S1312G exm1573355 21 43557719 [T/G] NM_001199527,NM_001199528,NM_173568,NM_001004416 UMODL1,UMODL1,UMODL1,UMODL1 EXON Missense_F1372V,Missense_F1244V,Missense_F1444V,Missense_F1316V exm1573356 21 43557725 [A/G] NM_001199527,NM_001199528,NM_173568,NM_001004416 UMODL1,UMODL1,UMODL1,UMODL1 EXON Missense_E1374K,Missense_E1246K,Missense_E1446K,Missense_E1318K exm1573387 21 43645788 [A/G] NM_207627,NM_207628,NM_207629,NM_004915,NM_016818,NM_207174 ABCG1,ABCG1,ABCG1,ABCG1,ABCG1,ABCG1 EXON Missense_S19N,Silent,Missense_S14N,Missense_S17N,Missense_S17N,Missense_S28N exm1573388 21 43645809 [T/C] NM_207627,NM_207628,NM_207629,NM_004915,NM_016818,NM_207174 ABCG1,ABCG1,ABCG1,ABCG1,ABCG1,ABCG1 EXON Missense_T26M,Missense_T2M,Missense_T21M,Missense_T24M,Missense_T24M,Missense_T35M exm2235046 21 43646024 [T/G] NM_207627,NM_207628,NM_207629,NM_004915,NM_016818,NM_207174 ABCG1,ABCG1,ABCG1,ABCG1,ABCG1,ABCG1 EXON Nonsense_G98X,Nonsense_G74X,Nonsense_G93X,Nonsense_G96X,Nonsense_G96X,Nonsense_G107X exm1573422 21 43697009 [T/C] NM_207627,NM_207628,NM_207629,NM_004915,NM_016818,NM_207174 ABCG1,ABCG1,ABCG1,ABCG1,ABCG1,ABCG1 EXON Missense_S183L,Missense_S159L,Missense_S178L,Missense_S181L,Missense_S181L,Missense_S192L exm2254646 21 43701977 [A/G] NM_207627,NM_207628,NM_207629,NM_004915,NM_016818,NM_207174 ABCG1,ABCG1,ABCG1,ABCG1,ABCG1,ABCG1 Silent,Silent,Silent,Silent,Silent,Silent exm1573433 21 43704671 [A/G] NM_207627,NM_207628,NM_207629,NM_004915,NM_016818,NM_207174 ABCG1,ABCG1,ABCG1,ABCG1,ABCG1,ABCG1 EXON Missense_G248S,Missense_G224S,Missense_G243S,Missense_G246S,Missense_G246S,Missense_G257S exm-rs425215 21 43707101 [G/C] NM_207627,NM_207628,NM_207629,NM_004915,NM_016818,NM_207174 ABCG1,ABCG1,ABCG1,ABCG1,ABCG1,ABCG1 Silent,Silent,Silent,Silent,Silent,Silent exm1573450 21 43708059 [A/G] NM_207627,NM_207628,NM_207629,NM_004915,NM_016818,NM_207174 ABCG1,ABCG1,ABCG1,ABCG1,ABCG1,ABCG1 EXON Missense_R347Q,Missense_R323Q,Missense_R342Q,Missense_R345Q,Missense_R345Q,Missense_R356Q exm1573452 21 43708097 [A/G] NM_207627,NM_207628,NM_207629,NM_004915,NM_016818,NM_207174 ABCG1,ABCG1,ABCG1,ABCG1,ABCG1,ABCG1 EXON Missense_G360R,Missense_G336R,Missense_G355R,Missense_G358R,Missense_G358R,Missense_G369R exm1573464 21 43708422 [A/G] NM_207627,NM_207628,NM_207629,NM_004915,NM_016818,NM_207174 ABCG1,ABCG1,ABCG1,ABCG1,ABCG1,ABCG1 EXON Synonymous_S410S,Synonymous_S386S,Synonymous_S405S,Synonymous_S420S,Synonymous_S408S,Synonymous_S419S exm1573524 21 43733628 [T/C] NM_003226 TFF3 EXON Missense_V80M exm1573537 21 43735471 [A/G] NM_003226 TFF3 EXON Missense_A19V exm1573539 21 43735474 [G/C] NM_003226 TFF3 EXON Missense_R18T exm1573540 21 43735492 [A/G] NM_003226 TFF3 EXON Missense_T12M exm1573550 21 43767595 [T/C] NM_005423 TFF2 EXON Missense_D126N exm1573554 21 43767723 [A/G] NM_005423 TFF2 EXON Missense_M83T exm1573563 21 43770100 [A/G] NM_005423 TFF2 EXON Missense_T40M exm1573565 21 43771005 [A/G] NM_005423 TFF2 EXON Missense_A21V exm1573570 21 43771047 [T/G] NM_005423 TFF2 EXON Missense_Q7P exm1573572 21 43771060 [A/G] NM_005423 TFF2 EXON Missense_R3W exm1573592 21 43783418 [T/C] NM_003225 TFF1 EXON Missense_V62I exm1573597 21 43783460 [A/G] NM_003225 TFF1 EXON Missense_P48S exm1573602 21 43786532 [T/C] NM_003225 TFF1 EXON Missense_E25K exm1573604 21 43786540 [A/G] NM_003225 TFF1 EXON Missense_T22I exm1573607 21 43786554 [T/C] NM_003225 TFF1 EXON Missense_M17I exm1573609 21 43786574 [T/C] NM_003225 TFF1 EXON Missense_A11T exm1573617 21 43792873 [A/G] NM_032404,NM_001256317,NM_024022,NR_046020 TMPRSS3,TMPRSS3,TMPRSS3,TMPRSS3 EXON Missense_X328R,Missense_X454R,Missense_X455R,Silent exm1573620 21 43795829 [A/G] NM_032404,NM_001256317,NM_024022,NR_046020 TMPRSS3,TMPRSS3,TMPRSS3,TMPRSS3 EXON Missense_M321T,Missense_M447T,Missense_M448T,Silent exm1573623 21 43795863 [T/C] NM_032404,NM_001256317,NM_024022,NR_046020 TMPRSS3,TMPRSS3,TMPRSS3,TMPRSS3 EXON Missense_V310I,Missense_V436I,Missense_V437I,Silent exm1573626 21 43795896 [T/C] NM_032404,NM_001256317,NM_024022,NR_046020 TMPRSS3,TMPRSS3,TMPRSS3,TMPRSS3 EXON Missense_A299T,Missense_A425T,Missense_A426T,Silent exm1573638 21 43796684 [A/G] NM_032404,NM_001256317,NM_024022,NR_046020 TMPRSS3,TMPRSS3,TMPRSS3,TMPRSS3 EXON Missense_A260V,Missense_A386V,Missense_A387V,Silent exm1573649 21 43800232 [T/C] NM_032404,NM_001256317,NM_024022,NR_046020 TMPRSS3,TMPRSS3,TMPRSS3,TMPRSS3 EXON Missense_D221N,Missense_D348N,Missense_D348N,Silent exm1573655 21 43800317 [G/C] NM_032404,NM_001256317,NM_024022,NR_046020 TMPRSS3,TMPRSS3,TMPRSS3,TMPRSS3 EXON Missense_M192I,Missense_M319I,Missense_M319I,Silent exm2254648 21 43802325 [T/C] NM_032404,NM_001256317,NM_024022,NR_046020,NM_032405 TMPRSS3,TMPRSS3,TMPRSS3,TMPRSS3,TMPRSS3 EXON Synonymous_S140S,Synonymous_S267S,Synonymous_S267S,Silent,Synonymous_S267S exm1573670 21 43803167 [T/C] NM_032404,NM_001256317,NM_024022,NR_046020,NM_032405 TMPRSS3,TMPRSS3,TMPRSS3,TMPRSS3,TMPRSS3 EXON Missense_I126V,Missense_I253V,Missense_I253V,Silent,Missense_I253V exm1573673 21 43803209 [A/G] NM_032404,NM_001256317,NM_024022,NR_046020,NM_032405 TMPRSS3,TMPRSS3,TMPRSS3,TMPRSS3,TMPRSS3 EXON Missense_Y112H,Missense_Y239H,Missense_Y239H,Silent,Missense_Y239H exm2235050 21 43804102 [T/C] NM_032404,NM_001256317,NM_024022,NR_046020,NM_032405 TMPRSS3,TMPRSS3,TMPRSS3,TMPRSS3,TMPRSS3 EXON Missense_H71R,Missense_H198R,Missense_H198R,Silent,Missense_H198R exm1573697 21 43805593 [A/C] NM_032404,NM_001256317,NM_024022,NR_046020,NM_032405 TMPRSS3,TMPRSS3,TMPRSS3,TMPRSS3,TMPRSS3 EXON Missense_R39L,Missense_R166L,Missense_R166L,Silent,Missense_R166L exm1573704 21 43808545 [T/G] NM_032404,NM_001256317,NM_024022,NR_046020,NM_032405 TMPRSS3,TMPRSS3,TMPRSS3,TMPRSS3,TMPRSS3 EXON Missense_A11E,Missense_A138E,Missense_A138E,Silent,Missense_A138E exm1573708 21 43808567 [T/C] NM_032404,NM_001256317,NM_024022,NR_046020,NM_032405 TMPRSS3,TMPRSS3,TMPRSS3,TMPRSS3,TMPRSS3 EXON Missense_D4N,Missense_D131N,Missense_D131N,Silent,Missense_D131N exm1573710 21 43808611 [A/G] NM_032404,NM_001256317,NM_024022,NR_046020,NM_032405 TMPRSS3,TMPRSS3,TMPRSS3,TMPRSS3,TMPRSS3 EXON Silent,Missense_V116A,Missense_V116A,Silent,Missense_V116A exm1573712 21 43808627 [T/C] NM_032404,NM_001256317,NM_024022,NR_046020,NM_032405 TMPRSS3,TMPRSS3,TMPRSS3,TMPRSS3,TMPRSS3 EXON Silent,Missense_G111S,Missense_G111S,Silent,Missense_G111S exm1573715 21 43809043 [T/C] NM_032404,NM_001256317,NM_024022,NR_046020,NM_032405 TMPRSS3,TMPRSS3,TMPRSS3,TMPRSS3,TMPRSS3 EXON Silent,Missense_R106H,Missense_R106H,Silent,Missense_R106H exm1573716 21 43809044 [A/G] NM_032404,NM_001256317,NM_024022,NR_046020,NM_032405 TMPRSS3,TMPRSS3,TMPRSS3,TMPRSS3,TMPRSS3 EXON Silent,Missense_R106C,Missense_R106C,Silent,Missense_R106C exm1573721 21 43809080 [T/C] NM_032404,NM_001256317,NM_024022,NR_046020,NM_032405 TMPRSS3,TMPRSS3,TMPRSS3,TMPRSS3,TMPRSS3 EXON Silent,Missense_G94R,Missense_G94R,Silent,Missense_G94R exm1573723 21 43809089 [A/G] NM_032404,NM_001256317,NM_024022,NR_046020,NM_032405 TMPRSS3,TMPRSS3,TMPRSS3,TMPRSS3,TMPRSS3 EXON Silent,Nonsense_R91X,Nonsense_R91X,Silent,Nonsense_R91X exm1573724 21 43809092 [T/C] NM_032404,NM_001256317,NM_024022,NR_046020,NM_032405 TMPRSS3,TMPRSS3,TMPRSS3,TMPRSS3,TMPRSS3 EXON Silent,Missense_A90T,Missense_A90T,Silent,Missense_A90T exm1573726 21 43809121 [T/C] NM_032404,NM_001256317,NM_024022,NR_046020,NM_032405 TMPRSS3,TMPRSS3,TMPRSS3,TMPRSS3,TMPRSS3 EXON Silent,Missense_R80H,Missense_R80H,Silent,Missense_R80H exm1983152 21 43809148 [A/G] NM_032404,NM_001256317,NM_024022,NR_046020,NM_032405 TMPRSS3,TMPRSS3,TMPRSS3,TMPRSS3,TMPRSS3 EXON Silent,Missense_F71S,Missense_F71S,Silent,Missense_F71S exm1573734 21 43810080 [A/G] NM_001256317,NM_024022,NR_046020,NM_032405 TMPRSS3,TMPRSS3,TMPRSS3,TMPRSS3 EXON Missense_I54T,Missense_I54T,Silent,Missense_I54T exm1573735 21 43810084 [T/C] NM_001256317,NM_024022,NR_046020,NM_032405 TMPRSS3,TMPRSS3,TMPRSS3,TMPRSS3 EXON Missense_V53I,Missense_V53I,Silent,Missense_V53I exm1573744 21 43815488 [G/C] NM_001256317,NM_024022,NR_046020,NM_032405 TMPRSS3,TMPRSS3,TMPRSS3,TMPRSS3 EXON Missense_F13L,Missense_F13L,Silent,Missense_F13L exm1573762 21 43824076 [A/C] NM_018961,NM_001243467,NM_001001895 UBASH3A,UBASH3A,UBASH3A EXON Missense_L8I,Missense_L8I,Missense_L8I exm1573764 21 43824106 [A/G] NM_018961,NM_001243467,NM_001001895 UBASH3A,UBASH3A,UBASH3A EXON Missense_S18G,Missense_S18G,Missense_S18G exm1573767 21 43824136 [T/C] NM_018961,NM_001243467,NM_001001895 UBASH3A,UBASH3A,UBASH3A EXON Missense_L28F,Missense_L28F,Missense_L28F exm1573785 21 43829605 [T/C] NM_018961,NM_001243467,NM_001001895 UBASH3A,UBASH3A,UBASH3A EXON Missense_T81M,Missense_T81M,Missense_T81M exm1573790 21 43829652 [T/C] NM_018961,NM_001243467,NM_001001895 UBASH3A,UBASH3A,UBASH3A EXON Missense_R97C,Missense_R97C,Missense_R97C exm1573791 21 43829693 [A/C] NM_018961,NM_001243467,NM_001001895 UBASH3A,UBASH3A,UBASH3A EXON Missense_H110Q,Missense_H110Q,Missense_H110Q exm1573792 21 43829694 [A/G] NM_018961,NM_001243467,NM_001001895 UBASH3A,UBASH3A,UBASH3A EXON Missense_V111M,Missense_V111M,Missense_V111M exm1573793 21 43829717 [A/G] NM_018961,NM_001243467,NM_001001895 UBASH3A,UBASH3A,UBASH3A EXON Synonymous_T118T,Synonymous_T118T,Synonymous_T118T exm1573800 21 43833209 [T/C] NM_018961,NM_001243467,NM_001001895 UBASH3A,UBASH3A,UBASH3A EXON Missense_T144M,Missense_T144M,Missense_T144M exm1573805 21 43833280 [A/G] NM_018961,NM_001243467,NM_001001895 UBASH3A,UBASH3A,UBASH3A EXON Missense_V168I,Missense_V168I,Missense_V168I exm1573812 21 43833520 [A/C] NM_018961,NM_001243467,NM_001001895 UBASH3A,UBASH3A,UBASH3A EXON Synonymous_G185G,Silent,Silent exm1573816 21 43833608 [A/G] NM_018961,NM_001243467,NM_001001895 UBASH3A,UBASH3A,UBASH3A EXON Missense_V215M,Silent,Silent exm-rs11203203 21 43836186 [A/G] NM_018961,NM_001243467,NM_001001895 UBASH3A,UBASH3A,UBASH3A Silent,Silent,Silent exm2235051 21 43836673 [T/C] NM_018961,NM_001243467,NM_001001895 UBASH3A,UBASH3A,UBASH3A EXON Missense_W264R,Missense_W226R,Missense_W226R exm1573840 21 43838643 [A/G] NM_018961,NM_001243467,NM_001001895 UBASH3A,UBASH3A,UBASH3A EXON Missense_R324Q,Missense_R286Q,Missense_R286Q exm1573848 21 43838679 [T/C] NM_018961,NM_001243467,NM_001001895 UBASH3A,UBASH3A,UBASH3A EXON Missense_T336M,Missense_T298M,Missense_T298M exm1573854 21 43846875 [C/G] NM_018961,NM_001243467,NM_001001895 UBASH3A,UBASH3A,UBASH3A EXON Missense_S372R,Missense_S334R,Missense_S334R exm1573878 21 43855058 [T/A] NM_018961,NM_001243467,NM_001001895 UBASH3A,UBASH3A,UBASH3A EXON Missense_I463F,Missense_I425F,Missense_I425F exm1573880 21 43857602 [C/G] NM_018961,NM_001243467,NM_001001895 UBASH3A,UBASH3A,UBASH3A EXON Missense_D466E,Missense_D428E,Missense_D428E exm1573883 21 43857670 [T/C] NM_018961,NM_001243467,NM_001001895 UBASH3A,UBASH3A,UBASH3A EXON Missense_T489M,Missense_T451M,Missense_T451M exm1573896 21 43863427 [T/C] NM_018961,NM_001243467,NM_001001895 UBASH3A,UBASH3A,UBASH3A EXON Missense_A546V,Silent,Missense_A508V exm1983206 21 43863441 [A/G] NM_018961,NM_001243467,NM_001001895 UBASH3A,UBASH3A,UBASH3A EXON Missense_A551T,Silent,Missense_A513T exm1573900 21 43863447 [T/A] NM_018961,NM_001243467,NM_001001895 UBASH3A,UBASH3A,UBASH3A EXON Missense_M553L,Silent,Missense_M515L exm1573902 21 43863456 [A/G] NM_018961,NM_001243467,NM_001001895 UBASH3A,UBASH3A,UBASH3A EXON Missense_E556K,Silent,Missense_E518K exm1573904 21 43863475 [T/G] NM_018961,NM_001243467,NM_001001895 UBASH3A,UBASH3A,UBASH3A EXON Missense_M562R,Silent,Missense_M524R exm1573920 21 43864713 [T/C] NM_018961,NM_001243467,NM_001001895 UBASH3A,UBASH3A,UBASH3A EXON Missense_P603L,Silent,Missense_P565L exm1983212 21 43867288 [C/G] NM_018961,NM_001243467,NM_001001895 UBASH3A,UBASH3A,UBASH3A EXON Missense_W657S,Silent,Missense_W619S exm1573931 21 43867290 [A/G] NM_018961,NM_001243467,NM_001001895 UBASH3A,UBASH3A,UBASH3A EXON Missense_I658V,Silent,Missense_I620V exm1573939 21 43892939 [A/G] NM_080860 RSPH1 EXON Missense_L307F exm1573941 21 43892951 [T/C] NM_080860 RSPH1 EXON Missense_R303G exm1573943 21 43896015 [T/C] NM_080860 RSPH1 EXON Missense_M290I exm1573944 21 43896026 [A/G] NM_080860 RSPH1 EXON Missense_R287C exm1573954 21 43896143 [T/C] NM_080860 RSPH1 EXON Missense_G248R exm1573956 21 43896152 [T/C] NM_080860 RSPH1 EXON Missense_G245R exm1573958 21 43896155 [T/C] NM_080860 RSPH1 EXON Missense_A244T exm1573963 21 43897401 [T/C] NM_080860 RSPH1 EXON Missense_S243G exm1573971 21 43897445 [A/G] NM_080860 RSPH1 EXON Missense_P228L exm1573977 21 43897478 [A/C] NM_080860 RSPH1 EXON Missense_L217W exm1573995 21 43905850 [T/C] NM_080860 RSPH1 EXON Missense_G144R exm1574004 21 43906496 [T/C] NM_080860 RSPH1 EXON Nonsense_W117X exm1574009 21 43906573 [T/G] NM_080860 RSPH1 Silent exm1574018 21 43913135 [A/G] NM_080860 RSPH1 EXON Missense_R37W exm1574019 21 43913146 [T/C] NM_080860 RSPH1 EXON Missense_R33H exm1574021 21 43913159 [A/C] NM_080860 RSPH1 EXON Nonsense_E29X exm1574027 21 43916286 [A/C] NM_080860 RSPH1 EXON Missense_L4R exm1574035 21 43938572 [A/G] NM_018964 SLC37A1 EXON Missense_R3Q exm1574037 21 43938613 [T/G] NM_018964 SLC37A1 EXON Missense_D17Y exm1574041 21 43954850 [A/G] NM_018964 SLC37A1 EXON Missense_V61I exm1574054 21 43955644 [A/G] NM_018964 SLC37A1 EXON Missense_V112M exm1574098 21 43979131 [A/G] NM_018964 SLC37A1 EXON Missense_V305I exm1574101 21 43979159 [A/G] NM_018964 SLC37A1 EXON Missense_G314D exm2276737 21 43984848 [A/G] NM_018964 SLC37A1 EXON Missense_R389Q exm1574139 21 43984901 [A/G] NM_018964 SLC37A1 EXON Missense_T407A exm1574143 21 43985955 [A/G] NM_018964 SLC37A1 EXON Missense_V414I exm1574144 21 43985958 [A/T] NM_018964 SLC37A1 EXON Missense_S415C exm-rs444435 21 44022793 [A/G] exm2273011 21 44088631 [T/C] NM_001001581,NM_001001576,NM_002606,NM_001001577,NM_001001570,NM_001001567,NM_001001578,NM_001001584,NM_001001580,NM_001001571,NM_001001583,NM_001001579,NM_001001582,NM_001001573,NM_001001569,NM_001001572,NM_001001575,NM_001001568,NM_001001574,NM_001001585 PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm1574194 21 44106332 [G/C] NM_001001581,NM_001001576,NM_002606,NM_001001577,NM_001001570,NM_001001567,NM_001001578,NM_001001584,NM_001001580,NM_001001571,NM_001001583,NM_001001579,NM_001001582,NM_001001573,NM_001001569,NM_001001572,NM_001001575,NM_001001568,NM_001001574,NM_001001585 PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A EXON Silent,Silent,Missense_D34H,Silent,Missense_D34H,Missense_D34H,Silent,Silent,Silent,Silent,Missense_D34H,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_D34H,Silent exm1574202 21 44117586 [T/C] NM_001001581,NM_001001576,NM_002606,NM_001001577,NM_001001570,NM_001001567,NM_001001578,NM_001001584,NM_001001580,NM_001001571,NM_001001583,NM_001001579,NM_001001582,NM_001001573,NM_001001569,NM_001001572,NM_001001575,NM_001001568,NM_001001574,NM_001001585 PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A EXON Silent,Silent,Silent,Silent,Missense_W94R,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm1574205 21 44119084 [A/G] NM_001001581,NM_001001576,NM_002606,NM_001001577,NM_001001570,NM_001001567,NM_001001578,NM_001001584,NM_001001580,NM_001001571,NM_001001583,NM_001001579,NM_001001582,NM_001001573,NM_001001569,NM_001001572,NM_001001575,NM_001001568,NM_001001574,NM_001001585 PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A EXON Synonymous_P8P,Silent,Synonymous_P75P,Silent,Missense_V101I,Synonymous_P75P,Missense_V52I,Silent,Silent,Synonymous_P34P,Synonymous_P49P,Silent,Synonymous_P34P,Silent,Missense_V26I,Silent,Silent,Synonymous_P8P,Synonymous_P49P,Silent exm1574207 21 44119120 [T/C] NM_001001581,NM_001001576,NM_002606,NM_001001577,NM_001001570,NM_001001567,NM_001001578,NM_001001584,NM_001001580,NM_001001571,NM_001001583,NM_001001579,NM_001001582,NM_001001573,NM_001001569,NM_001001572,NM_001001575,NM_001001568,NM_001001574,NM_001001585 PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A EXON Synonymous_S20S,Silent,Synonymous_S87S,Silent,Nonsense_R113X,Synonymous_S87S,Nonsense_R64X,Silent,Silent,Synonymous_S46S,Synonymous_S61S,Silent,Synonymous_S46S,Silent,Nonsense_R38X,Silent,Silent,Synonymous_S20S,Synonymous_S61S,Silent exm1574213 21 44151969 [T/C] NM_001001581,NM_001001576,NM_002606,NM_001001577,NM_001001570,NM_001001567,NM_001001578,NM_001001584,NM_001001580,NM_001001571,NM_001001583,NM_001001579,NM_001001582,NM_001001573,NM_001001569,NM_001001572,NM_001001575,NM_001001568,NM_001001574,NM_001001585 PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A EXON Missense_R51W,Silent,Missense_R118W,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_R92W,Silent,Missense_R77W,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm1574214 21 44151970 [A/G] NM_001001581,NM_001001576,NM_002606,NM_001001577,NM_001001570,NM_001001567,NM_001001578,NM_001001584,NM_001001580,NM_001001571,NM_001001583,NM_001001579,NM_001001582,NM_001001573,NM_001001569,NM_001001572,NM_001001575,NM_001001568,NM_001001574,NM_001001585 PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A EXON Missense_R51Q,Silent,Missense_R118Q,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_R92Q,Silent,Missense_R77Q,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm2254649 21 44152004 [A/G] NM_001001581,NM_001001576,NM_002606,NM_001001577,NM_001001570,NM_001001567,NM_001001578,NM_001001584,NM_001001580,NM_001001571,NM_001001583,NM_001001579,NM_001001582,NM_001001573,NM_001001569,NM_001001572,NM_001001575,NM_001001568,NM_001001574,NM_001001585 PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A EXON Synonymous_E62E,Silent,Synonymous_E129E,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Synonymous_E103E,Silent,Synonymous_E88E,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm1574234 21 44171260 [A/G] NM_001001581,NM_001001576,NM_002606,NM_001001577,NM_001001570,NM_001001567,NM_001001578,NM_001001584,NM_001001580,NM_001001571,NM_001001583,NM_001001579,NM_001001582,NM_001001573,NM_001001569,NM_001001572,NM_001001575,NM_001001568,NM_001001574,NM_001001585 PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A EXON Missense_N163D,Missense_N13D,Missense_N230D,Missense_N96D,Missense_N177D,Missense_N170D,Missense_N128D,Missense_N23D,Missense_N13D,Missense_N129D,Missense_N204D,Missense_N23D,Missense_N189D,Missense_N23D,Missense_N102D,Missense_N23D,Missense_N70D,Missense_N103D,Missense_N144D,Missense_N23D exm1983324 21 44171278 [T/C] NM_001001581,NM_001001576,NM_002606,NM_001001577,NM_001001570,NM_001001567,NM_001001578,NM_001001584,NM_001001580,NM_001001571,NM_001001583,NM_001001579,NM_001001582,NM_001001573,NM_001001569,NM_001001572,NM_001001575,NM_001001568,NM_001001574,NM_001001585 PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A EXON Missense_P169S,Missense_P19S,Missense_P236S,Missense_P102S,Missense_P183S,Missense_P176S,Missense_P134S,Missense_P29S,Missense_P19S,Missense_P135S,Missense_P210S,Missense_P29S,Missense_P195S,Missense_P29S,Missense_P108S,Missense_P29S,Missense_P76S,Missense_P109S,Missense_P150S,Missense_P29S exm1574235 21 44171282 [A/G] NM_001001581,NM_001001576,NM_002606,NM_001001577,NM_001001570,NM_001001567,NM_001001578,NM_001001584,NM_001001580,NM_001001571,NM_001001583,NM_001001579,NM_001001582,NM_001001573,NM_001001569,NM_001001572,NM_001001575,NM_001001568,NM_001001574,NM_001001585 PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A EXON Missense_R170Q,Missense_R20Q,Missense_R237Q,Missense_R103Q,Missense_R184Q,Missense_R177Q,Missense_R135Q,Missense_R30Q,Missense_R20Q,Missense_R136Q,Missense_R211Q,Missense_R30Q,Missense_R196Q,Missense_R30Q,Missense_R109Q,Missense_R30Q,Missense_R77Q,Missense_R110Q,Missense_R151Q,Missense_R30Q exm1574247 21 44179112 [G/C] NM_001001581,NM_001001576,NM_002606,NM_001001577,NM_001001570,NM_001001567,NM_001001578,NM_001001584,NM_001001580,NM_001001571,NM_001001583,NM_001001579,NM_001001582,NM_001001573,NM_001001569,NM_001001572,NM_001001575,NM_001001568,NM_001001574,NM_001001585 PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A EXON Missense_L205V,Missense_L55V,Missense_L272V,Missense_L138V,Missense_L219V,Missense_L212V,Missense_L170V,Missense_L65V,Missense_L55V,Missense_L171V,Missense_L246V,Missense_L65V,Missense_L231V,Missense_L65V,Missense_L144V,Missense_L65V,Missense_L112V,Missense_L145V,Missense_L186V,Missense_L65V exm1574275 21 44182287 [A/G] NM_001001581,NM_001001576,NM_002606,NM_001001577,NM_001001570,NM_001001567,NM_001001578,NM_001001584,NM_001001580,NM_001001571,NM_001001583,NM_001001579,NM_001001582,NM_001001573,NM_001001569,NM_001001572,NM_001001575,NM_001001568,NM_001001574,NM_001001585 PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A EXON Missense_A327T,Missense_A177T,Missense_A394T,Missense_A260T,Missense_A341T,Missense_A334T,Missense_A292T,Missense_A187T,Missense_A177T,Missense_A293T,Missense_A368T,Missense_A187T,Missense_A353T,Missense_A187T,Missense_A266T,Missense_A187T,Missense_A234T,Missense_A267T,Missense_A308T,Missense_A187T exm1574277 21 44182290 [A/G] NM_001001581,NM_001001576,NM_002606,NM_001001577,NM_001001570,NM_001001567,NM_001001578,NM_001001584,NM_001001580,NM_001001571,NM_001001583,NM_001001579,NM_001001582,NM_001001573,NM_001001569,NM_001001572,NM_001001575,NM_001001568,NM_001001574,NM_001001585 PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A EXON Missense_E328K,Missense_E178K,Missense_E395K,Missense_E261K,Missense_E342K,Missense_E335K,Missense_E293K,Missense_E188K,Missense_E178K,Missense_E294K,Missense_E369K,Missense_E188K,Missense_E354K,Missense_E188K,Missense_E267K,Missense_E188K,Missense_E235K,Missense_E268K,Missense_E309K,Missense_E188K exm1574279 21 44182344 [T/C] NM_001001581,NM_001001576,NM_002606,NM_001001577,NM_001001570,NM_001001567,NM_001001578,NM_001001584,NM_001001580,NM_001001571,NM_001001583,NM_001001579,NM_001001582,NM_001001573,NM_001001569,NM_001001572,NM_001001575,NM_001001568,NM_001001574,NM_001001585 PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A EXON Nonsense_R346X,Nonsense_R196X,Nonsense_R413X,Nonsense_R279X,Nonsense_R360X,Nonsense_R353X,Nonsense_R311X,Nonsense_R206X,Nonsense_R196X,Nonsense_R312X,Nonsense_R387X,Nonsense_R206X,Nonsense_R372X,Nonsense_R206X,Nonsense_R285X,Nonsense_R206X,Nonsense_R253X,Nonsense_R286X,Nonsense_R327X,Nonsense_R206X exm1574281 21 44185492 [T/G] NM_001001581,NM_001001576,NM_002606,NM_001001577,NM_001001570,NM_001001567,NM_001001578,NM_001001584,NM_001001580,NM_001001571,NM_001001583,NM_001001579,NM_001001582,NM_001001573,NM_001001569,NM_001001572,NM_001001575,NM_001001568,NM_001001574,NM_001001585 PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A EXON Missense_G348V,Missense_G198V,Missense_G415V,Missense_G281V,Missense_G362V,Missense_G355V,Missense_G313V,Missense_G208V,Missense_G198V,Missense_G314V,Missense_G389V,Missense_G208V,Missense_G374V,Missense_G208V,Missense_G287V,Missense_G208V,Missense_G255V,Missense_G288V,Missense_G329V,Missense_G208V exm1574285 21 44185600 [T/C] NM_001001581,NM_001001576,NM_002606,NM_001001577,NM_001001570,NM_001001567,NM_001001578,NM_001001584,NM_001001580,NM_001001571,NM_001001583,NM_001001579,NM_001001582,NM_001001573,NM_001001569,NM_001001572,NM_001001575,NM_001001568,NM_001001574,NM_001001585 PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A EXON Missense_T384I,Missense_T234I,Missense_T451I,Missense_T317I,Missense_T398I,Missense_T391I,Missense_T349I,Missense_T244I,Missense_T234I,Missense_T350I,Missense_T425I,Missense_T244I,Missense_T410I,Missense_T244I,Missense_T323I,Missense_T244I,Missense_T291I,Missense_T324I,Missense_T365I,Missense_T244I exm1574303 21 44189185 [T/C] NM_001001581,NM_001001576,NM_002606,NM_001001577,NM_001001570,NM_001001567,NM_001001578,NM_001001584,NM_001001580,NM_001001571,NM_001001583,NM_001001579,NM_001001582,NM_001001573,NM_001001569,NM_001001572,NM_001001575,NM_001001568,NM_001001574,NM_001001585 PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A EXON Nonsense_R437X,Nonsense_R287X,Nonsense_R504X,Nonsense_R370X,Nonsense_R451X,Nonsense_R444X,Nonsense_R402X,Nonsense_R297X,Nonsense_R287X,Nonsense_R403X,Nonsense_R478X,Nonsense_R297X,Nonsense_R463X,Nonsense_R297X,Nonsense_R376X,Nonsense_R297X,Nonsense_R344X,Nonsense_R377X,Nonsense_R418X,Nonsense_R297X exm1574305 21 44189216 [T/C] NM_001001581,NM_001001576,NM_002606,NM_001001577,NM_001001570,NM_001001567,NM_001001578,NM_001001584,NM_001001580,NM_001001571,NM_001001583,NM_001001579,NM_001001582,NM_001001573,NM_001001569,NM_001001572,NM_001001575,NM_001001568,NM_001001574,NM_001001585 PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A EXON Missense_I447T,Missense_I297T,Missense_I514T,Missense_I380T,Missense_I461T,Missense_I454T,Missense_I412T,Missense_I307T,Missense_I297T,Missense_I413T,Missense_I488T,Missense_I307T,Missense_I473T,Missense_I307T,Missense_I386T,Missense_I307T,Missense_I354T,Missense_I387T,Missense_I428T,Missense_I307T exm1574314 21 44190901 [T/G] NM_001001581,NM_001001576,NM_002606,NM_001001577,NM_001001570,NM_001001567,NM_001001578,NM_001001584,NM_001001580,NM_001001571,NM_001001583,NM_001001579,NM_001001582,NM_001001573,NM_001001569,NM_001001572,NM_001001575,NM_001001568,NM_001001574,NM_001001585 PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A EXON Missense_M493R,Missense_M343R,Missense_M560R,Missense_M426R,Missense_M507R,Missense_M500R,Missense_M458R,Missense_M353R,Missense_M343R,Missense_M459R,Missense_M534R,Missense_M353R,Missense_M519R,Missense_M353R,Missense_M432R,Missense_M353R,Missense_M400R,Missense_M433R,Missense_M474R,Missense_M353R exm2254651 21 44191859 [A/G] NM_001001581,NM_001001576,NM_002606,NM_001001577,NM_001001570,NM_001001567,NM_001001578,NM_001001584,NM_001001580,NM_001001571,NM_001001583,NM_001001579,NM_001001582,NM_001001573,NM_001001569,NM_001001572,NM_001001575,NM_001001568,NM_001001574,NM_001001585 PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm1574316 21 44192574 [T/C] NM_001001581,NM_001001576,NM_002606,NM_001001577,NM_001001570,NM_001001567,NM_001001578,NM_001001584,NM_001001580,NM_001001571,NM_001001583,NM_001001579,NM_001001582,NM_001001573,NM_001001569,NM_001001572,NM_001001575,NM_001001568,NM_001001574,NM_001001585 PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A,PDE9A EXON Missense_T504M,Missense_T354M,Missense_T571M,Missense_T437M,Missense_T518M,Missense_T511M,Missense_T469M,Missense_T364M,Missense_T354M,Missense_T470M,Missense_T545M,Missense_T364M,Missense_T530M,Missense_T364M,Missense_T443M,Missense_T364M,Missense_T411M,Missense_T444M,Missense_T485M,Missense_T364M exm1574335 21 44270175 [A/G] NM_033661,NR_048535,NM_001260477,NM_001260474,NM_001260475,NM_018669,NM_001260476 WDR4,WDR4,WDR4,WDR4,WDR4,WDR4,WDR4 EXON Missense_A408V,Silent,Missense_A262V,Missense_A407V,Missense_A262V,Missense_A408V,Missense_A262V exm1574339 21 44270215 [T/C] NM_033661,NR_048535,NM_001260477,NM_001260474,NM_001260475,NM_018669,NM_001260476 WDR4,WDR4,WDR4,WDR4,WDR4,WDR4,WDR4 EXON Missense_G395R,Silent,Missense_G249R,Missense_G394R,Missense_G249R,Missense_G395R,Missense_G249R exm1574340 21 44270229 [T/C] NM_033661,NR_048535,NM_001260477,NM_001260474,NM_001260475,NM_018669,NM_001260476 WDR4,WDR4,WDR4,WDR4,WDR4,WDR4,WDR4 EXON Missense_R390Q,Silent,Missense_R244Q,Missense_R389Q,Missense_R244Q,Missense_R390Q,Missense_R244Q exm1574358 21 44272374 [T/C] NM_033661,NR_048535,NM_001260477,NM_001260474,NM_001260475,NM_018669,NM_001260476 WDR4,WDR4,WDR4,WDR4,WDR4,WDR4,WDR4 EXON Missense_M346V,Silent,Missense_M200V,Missense_M345V,Missense_M200V,Missense_M346V,Missense_M200V exm1574360 21 44272389 [A/G] NM_033661,NR_048535,NM_001260477,NM_001260474,NM_001260475,NM_018669,NM_001260476 WDR4,WDR4,WDR4,WDR4,WDR4,WDR4,WDR4 EXON Missense_R341C,Silent,Missense_R195C,Missense_R340C,Missense_R195C,Missense_R341C,Missense_R195C exm1574373 21 44273813 [A/C] NM_033661,NR_048535,NM_001260477,NM_001260474,NM_001260475,NM_018669,NM_001260476 WDR4,WDR4,WDR4,WDR4,WDR4,WDR4,WDR4 EXON Missense_V281L,Silent,Missense_V135L,Missense_V280L,Missense_V135L,Missense_V281L,Missense_V135L exm1574381 21 44273858 [A/G] NM_033661,NR_048535,NM_001260477,NM_001260474,NM_001260475,NM_018669,NM_001260476 WDR4,WDR4,WDR4,WDR4,WDR4,WDR4,WDR4 EXON Missense_P266S,Silent,Missense_P120S,Missense_P265S,Missense_P120S,Missense_P266S,Missense_P120S exm1574395 21 44275829 [A/G] NM_033661,NR_048535,NM_001260477,NM_001260474,NM_001260475,NM_018669,NM_001260476 WDR4,WDR4,WDR4,WDR4,WDR4,WDR4,WDR4 EXON Missense_A230V,Silent,Missense_A84V,Missense_A230V,Missense_A84V,Missense_A230V,Missense_A84V exm1574410 21 44279813 [T/C] NM_033661,NR_048535,NM_001260477,NM_001260474,NM_001260475,NM_018669,NM_001260476 WDR4,WDR4,WDR4,WDR4,WDR4,WDR4,WDR4 EXON Missense_V196M,Silent,Missense_V50M,Missense_V196M,Missense_V50M,Missense_V196M,Missense_V50M exm1574445 21 44293744 [G/C] NM_033661,NR_048535,NM_001260477,NM_001260474,NM_001260475,NM_018669,NM_001260476 WDR4,WDR4,WDR4,WDR4,WDR4,WDR4,WDR4 EXON Missense_K71N,Silent,Silent,Missense_K71N,Silent,Missense_K71N,Silent exm1574463 21 44299536 [A/C] NM_033661,NR_048535,NM_001260474,NM_001260475,NM_018669,NM_001260476 WDR4,WDR4,WDR4,WDR4,WDR4,WDR4 EXON Missense_A24S,Silent,Missense_A24S,Silent,Missense_A24S,Silent exm2254652 21 44299573 [T/C] NM_033661,NR_048535,NM_001260474,NM_001260475,NM_018669,NM_001260476 WDR4,WDR4,WDR4,WDR4,WDR4,WDR4 EXON Synonymous_G11G,Silent,Synonymous_G11G,Silent,Synonymous_G11G,Silent exm1574470 21 44299604 [A/G] NM_033661,NR_048535,NM_001260474,NM_001260475,NM_018669,NM_001260476 WDR4,WDR4,WDR4,WDR4,WDR4,WDR4 EXON Missense_M1T,Silent,Missense_M1T,Silent,Missense_M1T,Silent exm1574487 21 44313454 [G/C] NM_001001503,NM_021075 NDUFV3,NDUFV3 EXON Missense_P4R,Missense_P4R exm1574491 21 44317065 [A/G] NM_001001503,NM_021075 NDUFV3,NDUFV3 EXON Missense_R26Q,Missense_R26Q exm1574496 21 44317156 [A/C] NM_001001503,NM_021075 NDUFV3,NDUFV3 EXON Missense_K56N,Missense_K56N exm1574503 21 44323430 [T/G] NM_001001503,NM_021075 NDUFV3,NDUFV3 EXON Silent,Missense_G103V exm1574504 21 44323435 [A/G] NM_001001503,NM_021075 NDUFV3,NDUFV3 EXON Silent,Missense_V105M exm1574508 21 44323490 [A/C] NM_001001503,NM_021075 NDUFV3,NDUFV3 EXON Silent,Missense_E123A exm1574518 21 44323720 [T/C] NM_001001503,NM_021075 NDUFV3,NDUFV3 EXON Silent,Nonsense_R200X exm1574522 21 44323814 [A/G] NM_001001503,NM_021075 NDUFV3,NDUFV3 EXON Silent,Missense_G231E exm1574526 21 44323948 [A/G] NM_001001503,NM_021075 NDUFV3,NDUFV3 EXON Silent,Missense_E276K exm1574527 21 44323957 [A/G] NM_001001503,NM_021075 NDUFV3,NDUFV3 EXON Silent,Missense_K279E exm1574538 21 44324077 [C/G] NM_001001503,NM_021075 NDUFV3,NDUFV3 EXON Silent,Missense_E319Q exm1574545 21 44324233 [A/G] NM_001001503,NM_021075 NDUFV3,NDUFV3 EXON Silent,Missense_V371M exm1574550 21 44324329 [A/G] NM_001001503,NM_021075 NDUFV3,NDUFV3 EXON Silent,Missense_E403K exm1574554 21 44324365 [A/G] NM_001001503,NM_021075 NDUFV3,NDUFV3 EXON Silent,Missense_D415N exm1574556 21 44324372 [A/G] NM_001001503,NM_021075 NDUFV3,NDUFV3 EXON Silent,Missense_R417Q exm1574557 21 44324388 [T/A] NM_001001503,NM_021075 NDUFV3,NDUFV3 Silent,Silent exm1574568 21 44329111 [T/C] NM_001001503,NM_021075 NDUFV3,NDUFV3 EXON Missense_R103W,Missense_R468W exm1574581 21 44430219 [A/T] NM_004571 PKNOX1 EXON Missense_Q79L exm1574584 21 44433203 [A/G] NM_004571 PKNOX1 EXON Missense_R126H exm1574589 21 44437079 [T/C] NM_004571 PKNOX1 EXON Missense_A195V exm1574591 21 44437106 [T/C] NM_004571 PKNOX1 EXON Missense_A204V exm1574594 21 44438248 [A/C] NM_004571 PKNOX1 EXON Missense_T210P exm1574596 21 44438266 [A/G] NM_004571 PKNOX1 EXON Missense_T216A exm-rs234720 21 44445292 [T/C] NM_004571 PKNOX1 Silent exm-rs2839627 21 44448718 [T/C] NM_004571 PKNOX1 Silent exm1983462 21 44473972 [T/C] NM_000071,NM_001178009,NM_001178008 CBS,CBS,CBS EXON Silent,Silent,Silent exm1574634 21 44474003 [T/C] NM_000071,NM_001178009,NM_001178008 CBS,CBS,CBS EXON Missense_R548Q,Missense_R548Q,Missense_R548Q exm1574656 21 44478311 [T/C] NM_000071,NM_001178009,NM_001178008 CBS,CBS,CBS EXON Missense_G471R,Missense_G471R,Missense_G471R exm1574660 21 44478947 [A/G] NM_000071,NM_001178009,NM_001178008 CBS,CBS,CBS EXON Missense_A452V,Missense_A452V,Missense_A452V exm1574662 21 44478972 [T/C] NM_000071,NM_001178009,NM_001178008 CBS,CBS,CBS EXON Missense_D444N,Missense_D444N,Missense_D444N exm1574664 21 44479029 [T/C] NM_000071,NM_001178009,NM_001178008 CBS,CBS,CBS EXON Missense_V425M,Missense_V425M,Missense_V425M exm1574679 21 44480591 [A/G] NM_000071,NM_001178009,NM_001178008 CBS,CBS,CBS EXON Missense_R369C,Missense_R369C,Missense_R369C exm1574683 21 44480624 [T/C] NM_000071,NM_001178009,NM_001178008 CBS,CBS,CBS EXON Missense_V358M,Missense_V358M,Missense_V358M exm1574693 21 44483098 [T/C] NM_000071,NM_001178009,NM_001178008 CBS,CBS,CBS EXON Missense_G307S,Missense_G307S,Missense_G307S exm1574696 21 44483161 [T/C] NM_000071,NM_001178009,NM_001178008 CBS,CBS,CBS EXON Missense_I286V,Missense_I286V,Missense_I286V exm1574697 21 44483184 [A/G] NM_000071,NM_001178009,NM_001178008 CBS,CBS,CBS EXON Missense_I278T,Missense_I278T,Missense_I278T exm1574717 21 44485379 [A/G] NM_000071,NM_001178009,NM_001178008 CBS,CBS,CBS EXON Missense_R224C,Missense_R224C,Missense_R224C exm1574737 21 44486400 [A/G] NM_000071,NM_001178009,NM_001178008 CBS,CBS,CBS EXON Missense_T135M,Missense_T135M,Missense_T135M exm1574738 21 44486404 [T/C] NM_000071,NM_001178009,NM_001178008 CBS,CBS,CBS EXON Missense_G134R,Missense_G134R,Missense_G134R exm1574742 21 44486463 [A/G] NM_000071,NM_001178009,NM_001178008 CBS,CBS,CBS EXON Missense_A114V,Missense_A114V,Missense_A114V exm1574746 21 44488631 [T/G] NM_000071,NM_001178009,NM_001178008 CBS,CBS,CBS EXON Missense_K102Q,Missense_K102Q,Missense_K102Q exm1574747 21 44488639 [T/A] NM_000071,NM_001178009,NM_001178008 CBS,CBS,CBS EXON Missense_F99Y,Missense_F99Y,Missense_F99Y exm1983517 21 44488720 [A/T] NM_000071,NM_001178009,NM_001178008 CBS,CBS,CBS EXON Missense_K72I,Missense_K72I,Missense_K72I exm1574753 21 44492158 [A/G] NM_000071,NM_001178009,NM_001178008 CBS,CBS,CBS EXON Missense_P49L,Missense_P49L,Missense_P49L exm1574754 21 44492171 [A/G] NM_000071,NM_001178009,NM_001178008 CBS,CBS,CBS EXON Missense_R45W,Missense_R45W,Missense_R45W exm1574758 21 44492252 [A/G] NM_000071,NM_001178009,NM_001178008 CBS,CBS,CBS EXON Missense_R18C,Missense_R18C,Missense_R18C exm1574894 21 44589259 [T/C] NM_000394 CRYAA EXON Missense_F17S exm1574899 21 44589363 [T/C] NM_000394 CRYAA EXON Missense_L52F exm1574926 21 44592203 [A/G] NM_000394 CRYAA EXON Missense_R112H exm1574937 21 44592332 [A/C] NM_000394 CRYAA EXON Missense_A155D exm2261071 21 44734007 [T/C] exm-rs643608 21 44768562 [T/C] exm-rs496300 21 44779680 [T/C] exm1574944 21 44836747 [T/C] NM_173354 SIK1 EXON Missense_A743T exm1574946 21 44836770 [T/C] NM_173354 SIK1 EXON Missense_G735D exm1574948 21 44836800 [A/G] NM_173354 SIK1 EXON Missense_A725V exm1574967 21 44837555 [A/G] NM_173354 SIK1 EXON Missense_A615V exm1574980 21 44838331 [A/G] NM_173354 SIK1 EXON Missense_A518V exm2276738 21 44838346 [A/G] NM_173354 SIK1 EXON Missense_A513V exm1983583 21 44839063 [C/G] NM_173354 SIK1 EXON Missense_V434L exm1575003 21 44839075 [A/G] NM_173354 SIK1 EXON Missense_R430W exm1575007 21 44839263 [T/C] NM_173354 SIK1 EXON Missense_M405I exm1575012 21 44839758 [A/G] NM_173354 SIK1 EXON Missense_S367L exm1575027 21 44840147 [A/C] NM_173354 SIK1 EXON Missense_Q313H exm1575032 21 44840205 [A/G] NM_173354 SIK1 EXON Missense_A294V exm1575034 21 44840211 [T/A] NM_173354 SIK1 EXON Missense_F292Y exm2235058 21 44840278 [T/C] NM_173354 SIK1 EXON Missense_A270T exm1575038 21 44840296 [T/C] NM_173354 SIK1 EXON Missense_A264T exm1575070 21 44845968 [G/C] NM_173354 SIK1 EXON Missense_R31G exm2268375 21 44865282 [A/G] exm1575094 21 44949684 [T/C] NM_007031 HSF2BP EXON Missense_A319T exm1575097 21 44949704 [T/C] NM_007031 HSF2BP EXON Missense_R312H exm1575100 21 44949729 [A/G] NM_007031 HSF2BP EXON Missense_R304C exm1575147 21 45033827 [A/G] NM_007031 HSF2BP EXON Synonymous_N192N exm1575156 21 45050305 [A/C] NM_007031 HSF2BP EXON Missense_G158C exm1575161 21 45053268 [A/G] NM_007031 HSF2BP EXON Missense_A109V exm2235060 21 45053286 [T/C] NM_007031 HSF2BP EXON Missense_R103Q exm1983650 21 45064182 [T/C] NM_007031 HSF2BP EXON Missense_I93M exm1575189 21 45079654 [A/G] NM_015056 RRP1B EXON Missense_V37M exm1575211 21 45096738 [A/G] NM_015056 RRP1B EXON Missense_E247K exm1575222 21 45104489 [T/C] NM_015056 RRP1B EXON Missense_T316M exm1575238 21 45106786 [T/G] NM_015056 RRP1B EXON Missense_L371V exm1575246 21 45107562 [T/C] NM_015056 RRP1B EXON Missense_L436P exm1575257 21 45107766 [A/G] NM_015056 RRP1B EXON Missense_G504D exm1575266 21 45107963 [A/C] NM_015056 RRP1B EXON Missense_L570M exm1983689 21 45108038 [A/C] NM_015056 RRP1B EXON Missense_K595Q exm1575269 21 45108044 [A/G] NM_015056 RRP1B EXON Missense_K597E exm1575273 21 45108098 [A/G] NM_015056 RRP1B EXON Missense_E615K exm1575275 21 45110194 [T/C] NM_015056 RRP1B EXON Missense_L631P exm1575281 21 45110316 [A/G] NM_015056 RRP1B EXON Missense_V672I exm1575282 21 45111329 [A/G] NM_015056 RRP1B EXON Missense_T677A exm1575285 21 45111383 [A/G] NM_015056 RRP1B EXON Missense_E695K exm1575350 21 45163611 [T/C] NM_003681 PDXK EXON Missense_T85M exm1575357 21 45166005 [T/C] NM_003681 PDXK EXON Missense_M126T exm1575377 21 45173481 [A/G] NM_003681 PDXK EXON Missense_V214M exm1575388 21 45175603 [A/G] NM_003681 PDXK EXON Missense_T262A exm1575389 21 45175604 [T/C] NM_003681 PDXK EXON Missense_T262I exm1575433 21 45194199 [T/C] NM_000100 CSTB EXON Missense_D61N exm1575437 21 45194586 [T/C] NM_000100 CSTB EXON Missense_V41M exm2254658 21 45209559 [T/C] NM_003683 RRP1 EXON Synonymous_L17L exm1575455 21 45211240 [T/C] NM_003683 RRP1 EXON Missense_T48M exm1575457 21 45211298 [A/C] NM_003683 RRP1 EXON Missense_D67E exm1575482 21 45217539 [A/G] NM_003683 RRP1 EXON Missense_I194V exm1575488 21 45217803 [A/C] NM_003683 RRP1 EXON Missense_N211K exm1575497 21 45217930 [A/G] NM_003683 RRP1 EXON Missense_G254S exm1575498 21 45217936 [T/C] NM_003683 RRP1 EXON Missense_R256C exm1575499 21 45217973 [T/C] NM_003683 RRP1 EXON Missense_P268L exm1575501 21 45217979 [T/C] NM_003683 RRP1 EXON Missense_A270V exm1983796 21 45220407 [A/G] NM_003683 RRP1 EXON Missense_E301K exm1575513 21 45220474 [A/G] NM_003683 RRP1 EXON Missense_R323H exm1575514 21 45220483 [A/G] NM_003683 RRP1 EXON Missense_K326R exm1575528 21 45222239 [A/G] NM_003683 RRP1 EXON Missense_K365R exm1575533 21 45223398 [C/G] NM_003683 RRP1 EXON Missense_G377R exm1575540 21 45223524 [T/C] NM_003683 RRP1 EXON Nonsense_R419X exm2268376 21 45376207 [A/G] NM_020132,NM_001037553 AGPAT3,AGPAT3 Silent,Silent exm1575555 21 45379653 [A/G] NM_020132,NM_001037553 AGPAT3,AGPAT3 EXON Missense_V31I,Missense_V31I exm1575558 21 45379716 [T/C] NM_020132,NM_001037553 AGPAT3,AGPAT3 EXON Missense_R52C,Missense_R52C exm1575562 21 45387890 [T/C] NM_020132,NM_001037553 AGPAT3,AGPAT3 EXON Missense_T81M,Missense_T81M exm2254660 21 45390557 [A/G] NM_020132,NM_001037553 AGPAT3,AGPAT3 EXON Synonymous_T178T,Synonymous_T178T exm1575583 21 45390557 [A/G] NM_020132,NM_001037553 AGPAT3,AGPAT3 EXON Synonymous_T178T,Synonymous_T178T exm1575593 21 45391272 [T/C] NM_020132,NM_001037553 AGPAT3,AGPAT3 EXON Missense_A223V,Missense_A223V exm2268395 21 45458778 [A/G] NM_003274 TRAPPC10 Silent exm1575690 21 45483543 [A/T] NM_003274 TRAPPC10 EXON Missense_D305E exm1575692 21 45483598 [T/C] NM_003274 TRAPPC10 EXON Missense_P324S exm1575697 21 45483656 [A/T] NM_003274 TRAPPC10 EXON Missense_K343M exm1575702 21 45494290 [A/G] NM_003274 TRAPPC10 EXON Missense_R375Q exm1575711 21 45497608 [A/G] NM_003274 TRAPPC10 EXON Missense_S471N exm1575714 21 45499479 [T/C] NM_003274 TRAPPC10 EXON Missense_L502F exm2254662 21 45502709 [A/G] NM_003274 TRAPPC10 EXON Synonymous_L588L exm1575727 21 45502779 [A/G] NM_003274 TRAPPC10 EXON Missense_M612V exm1575729 21 45502809 [A/G] NM_003274 TRAPPC10 EXON Missense_V622M exm1575730 21 45502844 [T/G] NM_003274 TRAPPC10 EXON Missense_I633M exm1575735 21 45502881 [A/T] NM_003274 TRAPPC10 EXON Missense_T646S exm1575738 21 45502929 [A/G] NM_003274 TRAPPC10 EXON Missense_A662T exm1575743 21 45503121 [A/G] NM_003274 TRAPPC10 EXON Missense_V726M exm1575744 21 45503139 [A/G] NM_003274 TRAPPC10 EXON Missense_V732M exm1575755 21 45506743 [T/C] NM_003274 TRAPPC10 EXON Missense_T814M exm2254663 21 45506819 [T/C] NM_003274 TRAPPC10 EXON Synonymous_A839A exm1575767 21 45507731 [C/G] NM_003274 TRAPPC10 EXON Missense_M897I exm1983887 21 45507783 [T/C] NM_003274 TRAPPC10 EXON Missense_R915C exm1575780 21 45509786 [A/G] NM_003274 TRAPPC10 EXON Missense_T948A exm1983896 21 45511880 [A/G] NM_003274 TRAPPC10 EXON Missense_G983S exm1575789 21 45511904 [A/G] NM_003274 TRAPPC10 EXON Missense_V991I exm1575796 21 45513974 [A/G] NM_003274 TRAPPC10 EXON Missense_V1010I exm1575797 21 45514022 [T/C] NM_003274 TRAPPC10 EXON Missense_R1026W exm1575840 21 45523258 [A/G] NM_003274 TRAPPC10 EXON Missense_S1209N exm1575844 21 45523326 [A/G] NM_003274 TRAPPC10 EXON Missense_G1232S exm1575867 21 45528919 [A/G] NM_005049 PWP2 EXON Missense_D25N exm1575882 21 45533653 [T/C] NM_005049 PWP2 EXON Missense_P51S exm1575886 21 45533696 [T/C] NM_005049 PWP2 EXON Missense_P65L exm1575890 21 45533720 [T/C] NM_005049 PWP2 EXON Missense_V73A exm1575892 21 45534069 [T/C] NM_005049 PWP2 EXON Missense_A79V exm1575900 21 45534552 [T/C] NM_005049 PWP2 EXON Missense_P125S exm1575902 21 45534582 [A/G] NM_005049 PWP2 EXON Missense_V135I exm1575904 21 45534630 [A/G] NM_005049 PWP2 EXON Missense_D151N exm2254664 21 45534638 [A/G] NM_005049 PWP2 EXON Synonymous_T153T exm1575907 21 45535194 [A/G] NM_005049 PWP2 EXON Missense_E174K exm1575911 21 45535239 [A/G] NM_005049 PWP2 EXON Missense_D189N exm1575921 21 45535681 [A/G] NM_005049 PWP2 EXON Missense_R239Q exm1983936 21 45537786 [A/G] NM_005049 PWP2 EXON Missense_A308T exm1575936 21 45537819 [A/G] NM_005049 PWP2 EXON Missense_E319K exm1575937 21 45537821 [T/G] NM_005049 PWP2 EXON Missense_E319D exm1575949 21 45538679 [A/G] NM_005049 PWP2 EXON Missense_N339S exm1575950 21 45538685 [T/C] NM_005049 PWP2 EXON Missense_S341L exm1575977 21 45540353 [C/G] NM_005049 PWP2 EXON Missense_T438S exm1575981 21 45540525 [T/C] NM_005049 PWP2 EXON Missense_R451C exm1575982 21 45540526 [A/G] NM_005049 PWP2 EXON Missense_R451H exm1575985 21 45540582 [A/G] NM_005049 PWP2 EXON Missense_G470S exm1575989 21 45540609 [A/G] NM_005049 PWP2 EXON Missense_D479N exm2235077 21 45540628 [T/C] NM_005049 PWP2 EXON Missense_V485A exm1575996 21 45540962 [A/G] NM_005049 PWP2 EXON Missense_T539A exm1576001 21 45542072 [T/A] NM_005049 PWP2 EXON Missense_F551I exm1576004 21 45542141 [A/G] NM_005049 PWP2 EXON Missense_N574D exm1576013 21 45542226 [T/C] NM_005049 PWP2 EXON Missense_A602V exm1576018 21 45544526 [T/C] NM_005049 PWP2 EXON Missense_F628S exm1576021 21 45544573 [A/G] NM_005049 PWP2 EXON Missense_E644K exm1576031 21 45545973 [A/G] NM_005049 PWP2 EXON Missense_A683T exm1576032 21 45545991 [A/G] NM_005049 PWP2 EXON Missense_V689I exm1576033 21 45546795 [T/C] NM_005049 PWP2 EXON Missense_R697W exm1576052 21 45547911 [T/C] NM_005049 PWP2 EXON Missense_P747S exm1576060 21 45547966 [T/C] NM_005049 PWP2 EXON Missense_M765T exm1576065 21 45548208 [T/C] NM_005049 PWP2 EXON Missense_R814C exm2276739 21 45548209 [A/G] NM_005049 PWP2 EXON Missense_R814H exm2254665 21 45548216 [A/G] NM_005049 PWP2 EXON Synonymous_L816L exm1576073 21 45548437 [A/G] NM_005049 PWP2 EXON Missense_G839R exm1576078 21 45550493 [A/G] NM_005049 PWP2 EXON Missense_H867R exm1576079 21 45550499 [A/C] NM_005049 PWP2 EXON Missense_N869T exm1576088 21 45553596 [T/C] NM_004649,NM_198155 C21orf33,C21orf33 EXON Missense_V6A,Missense_V6A exm1576096 21 45554021 [T/G] NM_004649,NM_198155 C21orf33,C21orf33 EXON Missense_I60S,Missense_I60S exm1576101 21 45555961 [T/C] NM_004649,NM_198155 C21orf33,C21orf33 EXON Missense_R72C,Missense_R72C exm1576110 21 45557079 [T/C] NM_004649,NM_198155 C21orf33,C21orf33 EXON Missense_A110V,Missense_A110V exm1576111 21 45557090 [T/C] NM_004649,NM_198155 C21orf33,C21orf33 EXON Missense_R114C,Missense_R114C exm1576141 21 45563187 [A/G] NM_004649,NM_198155 C21orf33,C21orf33 EXON Missense_G208R,Missense_G177R exm1576143 21 45563206 [A/G] NM_004649,NM_198155 C21orf33,C21orf33 EXON Missense_K214R,Missense_K183R exm1576148 21 45564748 [T/G] NM_004649,NM_198155 C21orf33,C21orf33 EXON Missense_F242V,Missense_F211V exm1576150 21 45564766 [G/C] NM_004649,NM_198155 C21orf33,C21orf33 EXON Missense_L248V,Missense_L217V exm1576151 21 45564775 [A/C] NM_004649,NM_198155 C21orf33,C21orf33 EXON Missense_I251L,Missense_I220L exm-rs2838519 21 45615023 [A/G] exm-rs762421 21 45615561 [A/G] exm-rs4819388 21 45647421 [T/C] NM_015259 ICOSLG EXON Silent exm1576181 21 45649954 [A/G] NM_015259 ICOSLG EXON Missense_P294L exm1576182 21 45649969 [A/G] NM_015259 ICOSLG EXON Missense_A289V exm1576186 21 45651216 [A/G] NM_015259 ICOSLG EXON Missense_A270V exm1576193 21 45651274 [T/C] NM_015259 ICOSLG EXON Missense_E251K exm1576196 21 45651319 [T/C] NM_015259 ICOSLG EXON Missense_I236V exm1576199 21 45655236 [T/C] NM_015259 ICOSLG EXON Missense_A206T exm1576210 21 45656756 [G/C] NM_015259 ICOSLG EXON Missense_V134L exm1576212 21 45656774 [T/C] NM_015259 ICOSLG EXON Missense_V128I exm1576213 21 45656782 [A/G] NM_015259 ICOSLG EXON Missense_V125A exm1576216 21 45656849 [T/C] NM_015259 ICOSLG EXON Missense_V103I exm1576218 21 45656860 [T/C] NM_015259 ICOSLG EXON Missense_R99H exm1576223 21 45656920 [T/C] NM_015259 ICOSLG EXON Missense_R79H exm1576253 21 45668924 [A/G] NM_013369,NM_175867 DNMT3L,DNMT3L EXON Missense_I327T,Missense_I327T exm1576261 21 45670770 [T/C] NM_013369,NM_175867 DNMT3L,DNMT3L EXON Missense_R278G,Missense_R278G exm1576264 21 45670790 [T/C] NM_013369,NM_175867 DNMT3L,DNMT3L EXON Missense_R271Q,Missense_R271Q exm1576277 21 45674582 [A/G] NM_013369,NM_175867 DNMT3L,DNMT3L EXON Missense_T204M,Missense_T204M exm1576284 21 45675997 [T/C] NM_013369,NM_175867 DNMT3L,DNMT3L EXON Missense_R186K,Missense_R186K exm1576286 21 45676010 [T/C] NM_013369,NM_175867 DNMT3L,DNMT3L EXON Missense_V182M,Missense_V182M exm1576290 21 45678440 [T/C] NM_013369,NM_175867 DNMT3L,DNMT3L EXON Missense_R161H,Missense_R161H exm1576294 21 45678537 [T/C] NM_013369,NM_175867 DNMT3L,DNMT3L EXON Missense_G129R,Missense_G129R exm1576300 21 45679389 [T/C] NM_013369,NM_175867 DNMT3L,DNMT3L EXON Missense_Y92C,Missense_Y92C exm1576301 21 45679399 [T/C] NM_013369,NM_175867 DNMT3L,DNMT3L EXON Missense_D89N,Missense_D89N exm1576305 21 45679565 [T/C] NM_013369,NM_175867 DNMT3L,DNMT3L EXON Missense_V61I,Missense_V61I exm1576317 21 45681109 [T/C] NM_013369,NM_175867 DNMT3L,DNMT3L EXON Missense_E12K,Missense_E12K exm1576338 21 45706476 [G/C] NM_000383 AIRE EXON Missense_Q57E exm1576350 21 45706895 [T/G] NM_000383 AIRE EXON Missense_K114N exm2275175 21 45706924 [T/C] NM_000383 AIRE EXON Missense_P124L exm2277203 21 45706968 [T/C] NM_000383 AIRE EXON Nonsense_R139X exm1576358 21 45707010 [A/G] NM_000383 AIRE EXON Missense_S153G exm1576365 21 45707433 [T/C] NM_000383 AIRE EXON Missense_P166L exm1576367 21 45707457 [A/G] NM_000383 AIRE EXON Missense_R174H exm1576369 21 45707474 [A/G] NM_000383 AIRE EXON Missense_G180R exm1576376 21 45708237 [A/C] NM_000383 AIRE EXON Missense_T183N exm1576377 21 45708249 [T/C] NM_000383 AIRE EXON Missense_S187L exm1576384 21 45708284 [A/G] NM_000383 AIRE EXON Missense_V199I exm1576385 21 45708288 [T/C] NM_000383 AIRE EXON Missense_P200L exm-rs2075876 21 45709153 [A/G] NM_000383 AIRE Silent exm1576398 21 45709626 [T/C] NM_000383 AIRE EXON Missense_R247C exm1576400 21 45709642 [T/C] NM_000383 AIRE EXON Missense_P252L exm1576402 21 45709656 [T/C] NM_000383 AIRE EXON Nonsense_R257X exm1576404 21 45709680 [A/G] NM_000383 AIRE EXON Missense_A265T exm1576414 21 45710744 [T/C] NM_000383 AIRE Silent exm-IND21-44535207 21 45710780 [D/I] NM_000383 AIRE exm1576423 21 45710960 [A/G] NM_000383 AIRE Silent exm1576426 21 45710999 [A/G] NM_000383 AIRE EXON Missense_V301M exm1576427 21 45711006 [A/G] NM_000383 AIRE EXON Missense_R303Q exm1576435 21 45711080 [T/C] NM_000383 AIRE EXON Missense_R328W exm1576456 21 45712898 [T/C] NM_000383 AIRE EXON Missense_A373V exm1576470 21 45713715 [T/C] NM_000383 AIRE EXON Missense_T441M exm1576479 21 45713792 [A/G] NM_000383 AIRE EXON Missense_G467R exm1576483 21 45714294 [T/C] NM_000383 AIRE EXON Missense_R471C exm1576490 21 45716269 [A/G] NM_000383 AIRE EXON Missense_D503N exm1984131 21 45732896 [T/C] NR_024108,NM_002626 PFKL,PFKL EXON Silent,Missense_H155Y exm1576546 21 45732905 [A/G] NR_024108,NM_002626 PFKL,PFKL EXON Silent,Missense_I158V exm1576553 21 45732989 [A/G] NR_024108,NM_002626 PFKL,PFKL EXON Silent,Missense_M186V exm1576554 21 45732999 [T/C] NR_024108,NM_002626 PFKL,PFKL EXON Silent,Missense_I189T exm1576566 21 45733867 [A/T] NR_024108,NM_002626 PFKL,PFKL EXON Silent,Missense_D237V exm1576568 21 45733894 [T/G] NR_024108,NM_002626 PFKL,PFKL EXON Silent,Missense_R246M exm2272988 21 45735995 [T/C] NR_024108,NM_002626 PFKL,PFKL Silent,Silent exm1576574 21 45736137 [A/G] NR_024108,NM_002626 PFKL,PFKL EXON Silent,Missense_R253H exm1576579 21 45736185 [A/G] NR_024108,NM_002626 PFKL,PFKL EXON Silent,Missense_R269H exm1576627 21 45742889 [A/G] NR_024108,NM_002626 PFKL,PFKL EXON Silent,Missense_R485H exm1576632 21 45743688 [T/C] NR_024108,NM_002626 PFKL,PFKL EXON Silent,Missense_R513C exm1576648 21 45744467 [A/G] NR_024108,NM_002626 PFKL,PFKL EXON Silent,Missense_V582M exm1576669 21 45745065 [A/C] NR_024108,NM_002626 PFKL,PFKL EXON Silent,Missense_T636K exm1576681 21 45745940 [A/G] NR_024108,NM_002626 PFKL,PFKL EXON Silent,Missense_K696E exm1576685 21 45746067 [C/G] NR_024108,NM_002626 PFKL,PFKL EXON Silent,Missense_D705E exm1576687 21 45746102 [T/C] NR_024108,NM_002626 PFKL,PFKL EXON Silent,Missense_V717A exm1576691 21 45746611 [T/C] NR_024108,NM_002626 PFKL,PFKL EXON Silent,Missense_R737W exm1984208 21 45750112 [T/C] NM_001271440,NM_004928,NM_001271441,NM_001271442 C21orf2,C21orf2,C21orf2,C21orf2 EXON Missense_R246H,Missense_R247H,Missense_R366H,Missense_R205H exm1576716 21 45750713 [T/C] NM_001271440,NM_004928,NM_001271441,NM_001271442 C21orf2,C21orf2,C21orf2,C21orf2 EXON Missense_R211K,Missense_R212K,Missense_R211K,Missense_R170K exm1576717 21 45750725 [A/G] NM_001271440,NM_004928,NM_001271441,NM_001271442 C21orf2,C21orf2,C21orf2,C21orf2 EXON Missense_S207L,Missense_S208L,Missense_S207L,Missense_S166L exm1576727 21 45751726 [A/G] NM_001271440,NM_004928,NM_001271441,NM_001271442 C21orf2,C21orf2,C21orf2,C21orf2 EXON Missense_T182I,Missense_T182I,Missense_T182I,Missense_T141I exm1576728 21 45751743 [G/C] NM_001271440,NM_004928,NM_001271441,NM_001271442 C21orf2,C21orf2,C21orf2,C21orf2 EXON Missense_D176E,Missense_D176E,Missense_D176E,Missense_D135E exm1576731 21 45751766 [T/C] NM_001271440,NM_004928,NM_001271441,NM_001271442 C21orf2,C21orf2,C21orf2,C21orf2 EXON Missense_E169K,Missense_E169K,Missense_E169K,Missense_E128K exm1576732 21 45751772 [T/C] NM_001271440,NM_004928,NM_001271441,NM_001271442 C21orf2,C21orf2,C21orf2,C21orf2 EXON Missense_A167T,Missense_A167T,Missense_A167T,Missense_A126T exm1576735 21 45751814 [T/C] NM_001271440,NM_004928,NM_001271441,NM_001271442 C21orf2,C21orf2,C21orf2,C21orf2 EXON Missense_G153S,Missense_G153S,Missense_G153S,Missense_G112S exm1576736 21 45751822 [A/G] NM_001271440,NM_004928,NM_001271441,NM_001271442 C21orf2,C21orf2,C21orf2,C21orf2 EXON Missense_T150I,Missense_T150I,Missense_T150I,Missense_T109I exm1576740 21 45751873 [T/C] NM_001271440,NM_004928,NM_001271441,NM_001271442 C21orf2,C21orf2,C21orf2,C21orf2 EXON Missense_R133H,Missense_R133H,Missense_R133H,Missense_R92H exm1576745 21 45752939 [T/C] NM_001271440,NM_004928,NM_001271441,NM_001271442 C21orf2,C21orf2,C21orf2,C21orf2 EXON Missense_R117H,Missense_R117H,Missense_R117H,Missense_R76H exm1576757 21 45753117 [A/C] NM_001271440,NM_004928,NM_001271441,NM_001271442 C21orf2,C21orf2,C21orf2,C21orf2 EXON Missense_V58L,Missense_V58L,Missense_V58L,Missense_V17L exm1576784 21 45773590 [C/G] NM_003307,NR_038257 TRPM2,TRPM2 EXON Missense_P3A,Silent exm1576785 21 45773615 [C/G] NM_003307,NR_038257 TRPM2,TRPM2 EXON Missense_S11W,Silent exm1576791 21 45773726 [T/G] NM_003307,NR_038257 TRPM2,TRPM2 EXON Missense_C48F,Silent exm1576792 21 45773729 [T/C] NM_003307,NR_038257 TRPM2,TRPM2 EXON Missense_P49L,Silent exm1576818 21 45783999 [A/G] NM_003307,NR_038257 TRPM2,TRPM2 EXON Missense_K86R,Silent exm2254668 21 45784090 [A/G] NM_003307,NR_038257 TRPM2,TRPM2 EXON Synonymous_K116K,Silent exm1576830 21 45784149 [A/G] NM_003307,NR_038257 TRPM2,TRPM2 EXON Missense_S136N,Silent exm1576831 21 45784164 [A/G] NM_003307,NR_038257 TRPM2,TRPM2 EXON Missense_K141R,Silent exm2235089 21 45786646 [A/G] NM_003307,NR_038257 TRPM2,TRPM2 EXON Missense_V145I,Silent exm1576835 21 45786650 [T/C] NM_003307,NR_038257 TRPM2,TRPM2 EXON Missense_S146F,Silent exm1576838 21 45786670 [A/G] NM_003307,NR_038257 TRPM2,TRPM2 EXON Missense_V153M,Silent exm1576840 21 45786709 [A/G] NM_003307,NR_038257 TRPM2,TRPM2 EXON Missense_V166I,Silent exm1984249 21 45786767 [A/G] NM_003307,NR_038257 TRPM2,TRPM2 EXON Missense_R185Q,Silent exm1984254 21 45789078 [C/G] NM_003307,NR_038257 TRPM2,TRPM2 EXON Missense_G208A,Silent exm1984255 21 45789156 [T/G] NM_003307,NR_038257 TRPM2,TRPM2 EXON Missense_G234V,Silent exm1576853 21 45795728 [A/G] NM_003307,NR_038257 TRPM2,TRPM2 EXON Missense_A262T,Silent exm1576855 21 45795763 [A/C] NM_003307,NR_038257 TRPM2,TRPM2 EXON Missense_N273K,Silent exm1576859 21 45795812 [A/G] NM_003307,NR_038257 TRPM2,TRPM2 EXON Missense_G290R,Silent exm1576862 21 45795877 [T/G] NM_003307,NR_038257 TRPM2,TRPM2 EXON Missense_E311D,Silent exm1576871 21 45798896 [T/C] NM_003307,NR_038257 TRPM2,TRPM2 EXON Missense_T344I,Silent exm1576873 21 45798904 [A/G] NM_003307,NR_038257 TRPM2,TRPM2 EXON Missense_G347S,Silent exm1576876 21 45798932 [T/C] NM_003307,NR_038257 TRPM2,TRPM2 EXON Missense_S356L,Silent exm1576880 21 45799017 [A/C] NM_003307,NR_038257 TRPM2,TRPM2 EXON Missense_S384R,Silent exm1576881 21 45799018 [A/G] NM_003307,NR_038257 TRPM2,TRPM2 EXON Missense_V385M,Silent exm1576890 21 45802616 [T/C] NM_003307,NR_038257 TRPM2,TRPM2 EXON Missense_R411W,Silent exm1576891 21 45802620 [A/G] NM_003307,NR_038257 TRPM2,TRPM2 EXON Missense_R412K,Silent exm1576892 21 45802622 [T/C] NM_003307,NR_038257 TRPM2,TRPM2 EXON Missense_R413W,Silent exm1576894 21 45810795 [A/G] NM_003307,NR_038257 TRPM2,TRPM2 EXON Missense_S443G,Silent exm1984276 21 45810817 [A/G] NM_003307,NR_038257 TRPM2,TRPM2 EXON Missense_E450G,Silent exm1576902 21 45811343 [T/G] NM_003307,NR_038257 TRPM2,TRPM2 EXON Missense_D543E,Silent exm1576910 21 45811411 [T/G] NM_003307,NR_038257 TRPM2,TRPM2 EXON Missense_R566L,Silent exm1576920 21 45815307 [T/C] NM_003307,NR_038257 TRPM2,TRPM2 EXON Missense_V602A,Silent exm1576923 21 45815331 [A/G] NM_003307,NR_038257 TRPM2,TRPM2 EXON Missense_R610H,Silent exm1576925 21 45815372 [T/G] NM_003307,NR_038257 TRPM2,TRPM2 EXON Missense_D624Y,Silent exm1576928 21 45815397 [A/C] NM_003307,NR_038257 TRPM2,TRPM2 EXON Missense_Q632P,Silent exm1576932 21 45815425 [C/G] NM_003307,NR_038257 TRPM2,TRPM2 EXON Missense_I641M,Silent exm1576936 21 45817649 [T/C] NM_003307,NR_038257 TRPM2,TRPM2 EXON Missense_A651V,Silent exm1576943 21 45817727 [T/C] NM_003307,NR_038257 TRPM2,TRPM2 EXON Missense_A677V,Silent exm1576946 21 45817758 [T/C] NM_003307,NR_038257 TRPM2,TRPM2 EXON Synonymous_I687I,Silent exm1576956 21 45819277 [A/G] NM_003307,NR_038257 TRPM2,TRPM2 EXON Missense_A721T,Silent exm1576957 21 45819296 [T/C] NM_003307,NR_038257 TRPM2,TRPM2 EXON Missense_M727T,Silent exm1576961 21 45820172 [G/C] NM_003307,NR_038257 TRPM2,TRPM2 EXON Missense_L747V,Silent exm1576965 21 45820196 [T/C] NM_003307,NR_038257 TRPM2,TRPM2 EXON Missense_R755C,Silent exm1576973 21 45821582 [T/G] NM_003307,NR_038257 TRPM2,TRPM2 EXON Missense_D780E,Silent exm2254669 21 45821681 [T/C] NM_003307,NR_038257 TRPM2,TRPM2 EXON Synonymous_F813F,Silent exm1576985 21 45821681 [T/C] NM_003307,NR_038257 TRPM2,TRPM2 EXON Synonymous_F813F,Silent exm1576999 21 45825103 [A/G] NM_003307,NR_038257 TRPM2,TRPM2 EXON Missense_V873I,Silent exm1577009 21 45825799 [T/C] NM_003307,NR_038257 TRPM2,TRPM2 EXON Missense_A890V,Silent exm1577015 21 45825817 [A/G] NM_003307,NR_038257 TRPM2,TRPM2 EXON Missense_R896H,Silent exm1577016 21 45825819 [A/G] NM_003307,NR_038257 TRPM2,TRPM2 EXON Missense_V897I,Silent exm1577017 21 45825855 [T/C] NM_003307,NR_038257 TRPM2,TRPM2 EXON Missense_R909W,Silent exm1577031 21 45826543 [T/C] NM_003307,NR_038257 TRPM2,TRPM2 EXON Nonsense_Q953X,Silent exm1577034 21 45826571 [A/G] NM_003307,NR_038257 TRPM2,TRPM2 EXON Missense_R962Q,Silent exm1577035 21 45826588 [T/C] NM_003307,NR_038257 TRPM2,TRPM2 EXON Nonsense_R968X,Silent exm1577044 21 45833789 [T/C] NM_003307,NR_038257 TRPM2,TRPM2 EXON Missense_P993L,Silent exm1577049 21 45833815 [A/G] NM_003307,NR_038257 TRPM2,TRPM2 EXON Missense_D1002N,Silent exm1577052 21 45833849 [T/C] NM_003307,NR_038257 TRPM2,TRPM2 EXON Missense_A1013V,Silent exm1577055 21 45833864 [T/C] NM_003307,NR_038257 TRPM2,TRPM2 EXON Missense_P1018L,Silent exm1577065 21 45837837 [C/G] NM_003307,NR_038257 TRPM2,TRPM2 EXON Missense_H1058Q,Silent exm1984341 21 45837892 [T/C] NM_003307,NR_038257 TRPM2,TRPM2 EXON Missense_R1077C,Silent exm1577084 21 45838333 [T/C] NM_003307,NR_038257 TRPM2,TRPM2 EXON Missense_A1119V,Silent exm1577086 21 45838383 [T/C] NM_003307,NR_038257 TRPM2,TRPM2 EXON Nonsense_R1136X,Silent exm1577088 21 45838405 [A/G] NM_003307,NR_038257 TRPM2,TRPM2 EXON Missense_R1143Q,Silent exm1577101 21 45844751 [A/G] NM_003307,NR_038257 TRPM2,TRPM2 EXON Missense_Q1189R,Silent exm1577103 21 45844780 [T/C] NM_003307,NR_038257 TRPM2,TRPM2 EXON Missense_R1199W,Silent exm1577109 21 45845568 [A/C] NM_003307,NR_038257 TRPM2,TRPM2 EXON Missense_A1218E,Silent exm2254670 21 45845620 [A/C] NM_003307,NR_038257 TRPM2,TRPM2 EXON Synonymous_G1235G,Silent exm1577118 21 45845651 [A/C] NM_003307,NR_038257 TRPM2,TRPM2 EXON Missense_L1246I,Silent exm1577119 21 45845661 [A/G] NM_003307,NR_038257 TRPM2,TRPM2 EXON Missense_N1249S,Silent exm1577122 21 45845699 [A/G] NM_003307,NR_038257 TRPM2,TRPM2 EXON Missense_V1262M,Silent exm1577126 21 45846544 [T/C] NM_003307,NR_038257 TRPM2,TRPM2 EXON Missense_T1266M,Silent exm1577129 21 45846576 [A/G] NM_003307,NR_038257 TRPM2,TRPM2 EXON Missense_T1277A,Silent exm1577130 21 45846577 [T/C] NM_003307,NR_038257 TRPM2,TRPM2 EXON Missense_T1277M,Silent exm1577145 21 45855040 [A/G] NM_003307,NR_038257 TRPM2,TRPM2 EXON Missense_R1334H,Silent exm1577147 21 45855045 [T/C] NM_003307,NR_038257 TRPM2,TRPM2 EXON Missense_R1336C,Silent exm1577149 21 45855054 [G/C] NM_003307,NR_038257 TRPM2,TRPM2 EXON Missense_L1339V,Silent exm1577152 21 45855079 [T/C] NM_003307,NR_038257 TRPM2,TRPM2 EXON Missense_T1347M,Silent exm1577154 21 45855099 [T/C] NM_003307,NR_038257 TRPM2,TRPM2 EXON Missense_R1354W,Silent exm2235097 21 45856987 [A/G] NM_003307,NR_038257 TRPM2,TRPM2 EXON Missense_I1368M,Silent exm1577168 21 45859001 [T/C] NM_003307,NR_038257 TRPM2,TRPM2 EXON Missense_R1407W,Silent exm1577169 21 45859013 [T/C] NM_003307,NR_038257 TRPM2,TRPM2 EXON Missense_W1411R,Silent exm1577170 21 45859014 [A/G] NM_003307,NR_038257 TRPM2,TRPM2 EXON Nonsense_W1411X,Silent exm1577171 21 45859017 [T/C] NM_003307,NR_038257 TRPM2,TRPM2 EXON Missense_P1412L,Silent exm1984381 21 45859043 [A/G] NM_003307,NR_038257 TRPM2,TRPM2 EXON Missense_G1421S,Silent exm1577175 21 45859048 [A/G] NM_003307,NR_038257 TRPM2,TRPM2 EXON Missense_M1422I,Silent exm1577182 21 45860714 [T/G] NM_003307,NR_038257 TRPM2,TRPM2 EXON Missense_A1438S,Silent exm1577187 21 45860766 [T/G] NM_003307,NR_038257 TRPM2,TRPM2 EXON Missense_V1455G,Silent exm1577191 21 45861629 [T/C] NM_003307,NR_038257 TRPM2,TRPM2 EXON Missense_R1481C,Silent exm1577194 21 45861645 [T/C] NM_003307,NR_038257 TRPM2,TRPM2 EXON Missense_A1486V,Silent exm1577209 21 45876660 [G/C] NM_030891 LRRC3 EXON Missense_A45P exm1577213 21 45876693 [T/C] NM_030891 LRRC3 EXON Nonsense_Q56X exm1577220 21 45876784 [A/T] NM_030891 LRRC3 EXON Missense_H86L exm1577228 21 45876852 [A/G] NM_030891 LRRC3 EXON Missense_A109T exm2254672 21 45876920 [T/C] NM_030891 LRRC3 EXON Synonymous_D131D exm1984400 21 45877078 [T/C] NM_030891 LRRC3 EXON Missense_P184L exm2254673 21 45877121 [T/C] NM_030891 LRRC3 EXON Synonymous_V198V exm1577255 21 45877228 [A/G] NM_030891 LRRC3 EXON Missense_R234Q exm1577261 21 45877287 [A/G] NM_030891 LRRC3 EXON Missense_G254S exm1577262 21 45877291 [T/C] NM_030891 LRRC3 EXON Missense_P255L exm1577269 21 45919682 [T/C] NM_001272037,NM_144991 TSPEAR,TSPEAR EXON Missense_R597Q,Missense_R665Q exm1577270 21 45919697 [A/C] NM_001272037,NM_144991 TSPEAR,TSPEAR EXON Missense_L592R,Missense_L660R exm1577273 21 45919761 [T/C] NM_001272037,NM_144991 TSPEAR,TSPEAR EXON Missense_D571N,Missense_D639N exm1577285 21 45924741 [A/G] NM_001272037,NM_144991 TSPEAR,TSPEAR EXON Missense_S525L,Missense_S593L exm2254675 21 45929090 [A/G] NM_001272037,NM_144991 TSPEAR,TSPEAR EXON Synonymous_L514L,Synonymous_L582L exm1577302 21 45929146 [T/C] NM_001272037,NM_144991 TSPEAR,TSPEAR EXON Missense_V496I,Missense_V564I exm1577304 21 45929160 [T/C] NM_001272037,NM_144991 TSPEAR,TSPEAR EXON Missense_Y491C,Missense_Y559C exm1577312 21 45929268 [A/G] NM_001272037,NM_144991 TSPEAR,TSPEAR EXON Missense_T455M,Missense_T523M exm1577319 21 45941766 [T/C] NM_001272037,NM_144991 TSPEAR,TSPEAR EXON Synonymous_P454P,Synonymous_P522P exm1577320 21 45941804 [A/G] NM_001272037,NM_144991 TSPEAR,TSPEAR EXON Nonsense_R442X,Nonsense_R510X exm1577332 21 45941945 [A/G] NM_001272037,NM_144991 TSPEAR,TSPEAR EXON Missense_R395W,Missense_R463W exm1577337 21 45945534 [A/T] NM_001272037,NM_144991 TSPEAR,TSPEAR Silent,Silent exm1577341 21 45945648 [C/G] NM_001272037,NM_144991 TSPEAR,TSPEAR EXON Missense_H340Q,Missense_H408Q exm1577343 21 45945687 [A/C] NM_001272037,NM_144991 TSPEAR,TSPEAR EXON Missense_E327D,Missense_E395D exm1577345 21 45945704 [T/C] NM_001272037,NM_144991 TSPEAR,TSPEAR EXON Missense_N322D,Missense_N390D exm1577349 21 45947183 [T/C] NM_001272037,NM_144991 TSPEAR,TSPEAR EXON Missense_G313R,Missense_G381R exm1577351 21 45947218 [A/G] NM_001272037,NM_144991 TSPEAR,TSPEAR EXON Missense_T301M,Missense_T369M exm1577358 21 45947381 [T/C] NM_001272037,NM_144991 TSPEAR,TSPEAR EXON Missense_V247M,Missense_V315M exm1577362 21 45948365 [A/C] NM_001272037,NM_144991 TSPEAR,TSPEAR EXON Missense_V230F,Missense_V298F exm1984439 21 45948385 [T/C] NM_001272037,NM_144991 TSPEAR,TSPEAR EXON Missense_R223Q,Missense_R291Q exm1577372 21 45949798 [T/C] NM_001272037,NM_144991 TSPEAR,TSPEAR EXON Missense_A157T,Missense_A225T exm1577373 21 45949803 [A/G] NM_001272037,NM_144991 TSPEAR,TSPEAR EXON Missense_S155L,Missense_S223L exm1577381 21 45950970 [A/G] NM_001272037,NM_144991 TSPEAR,TSPEAR EXON Nonsense_R129X,Nonsense_R197X exm1577397 21 45953695 [T/C] NM_001272037,NM_144991 TSPEAR,TSPEAR EXON Missense_G71S,Missense_G139S exm1577405 21 45953745 [T/C] NM_001272037,NM_144991 TSPEAR,TSPEAR EXON Missense_R54Q,Missense_R122Q exm1577406 21 45953746 [A/G] NM_001272037,NM_144991 TSPEAR,TSPEAR EXON Missense_R54W,Missense_R122W exm1577409 21 45953755 [A/G] NM_001272037,NM_144991 TSPEAR,TSPEAR EXON Missense_L51F,Missense_L119F exm1577414 21 45953773 [T/C] NM_001272037,NM_144991 TSPEAR,TSPEAR EXON Missense_E45K,Missense_E113K exm1577452 21 45959325 [A/G] NM_001272037,NM_144991,NM_198691 TSPEAR,TSPEAR,KRTAP10-1 EXON Silent,Silent,Missense_R237C exm1577524 21 45970620 [T/C] NM_001272037,NM_144991,NM_198693 TSPEAR,TSPEAR,KRTAP10-2 EXON Silent,Silent,Missense_R241H exm1577547 21 45970920 [T/C] NM_001272037,NM_144991,NM_198693 TSPEAR,TSPEAR,KRTAP10-2 EXON Silent,Silent,Missense_R141H exm1577581 21 45971335 [T/C] NM_001272037,NM_144991,NM_198693 TSPEAR,TSPEAR,KRTAP10-2 EXON Silent,Silent,Missense_A3T exm2235107 21 45987674 [A/G] NM_001272037,NM_144991 TSPEAR,TSPEAR EXON Missense_P32S,Missense_P100S exm2235108 21 45987736 [T/G] NM_001272037,NM_144991 TSPEAR,TSPEAR EXON Missense_Q11P,Missense_Q79P exm1577679 21 45987802 [T/C] NM_001272037,NM_144991 TSPEAR,TSPEAR EXON Silent,Missense_R57Q exm1577680 21 45987803 [A/G] NM_001272037,NM_144991 TSPEAR,TSPEAR EXON Silent,Missense_R57W exm1577681 21 45987821 [T/C] NM_001272037,NM_144991 TSPEAR,TSPEAR EXON Silent,Missense_V51I exm1577687 21 45987884 [A/G] NM_001272037,NM_144991 TSPEAR,TSPEAR EXON Silent,Missense_R30C exm1577692 21 45993673 [A/G] NM_001272037,NM_144991,NM_198687 TSPEAR,TSPEAR,KRTAP10-4 EXON Silent,Silent,Missense_R13H exm1577753 21 45994335 [T/G] NM_001272037,NM_144991,NM_198687 TSPEAR,TSPEAR,KRTAP10-4 EXON Silent,Silent,Missense_C234G exm1577818 21 45999885 [T/C] NM_001272037,NM_144991,NM_198694 TSPEAR,TSPEAR,KRTAP10-5 EXON Silent,Silent,Missense_V191I exm1577911 21 46011672 [T/C] NM_001272037,NM_144991,NM_198688 TSPEAR,TSPEAR,KRTAP10-6 EXON Silent,Silent,Missense_V232I exm1577979 21 46012349 [A/G] NM_001272037,NM_144991,NM_198688 TSPEAR,TSPEAR,KRTAP10-6 EXON Silent,Silent,Missense_M6T exm1578049 21 46021234 [A/G] NM_001272037,NM_144991,NM_198689 TSPEAR,TSPEAR,KRTAP10-7 EXON Silent,Silent,Missense_C233Y exm1578052 21 46021245 [A/G] NM_001272037,NM_144991,NM_198689 TSPEAR,TSPEAR,KRTAP10-7 EXON Silent,Silent,Missense_V237I exm1578086 21 46021624 [T/C] NM_001272037,NM_144991,NM_198689 TSPEAR,TSPEAR,KRTAP10-7 EXON Silent,Silent,Missense_T363I exm1578088 21 46032083 [A/T] NM_001272037,NM_144991,NM_198695 TSPEAR,TSPEAR,KRTAP10-8 EXON Silent,Silent,Missense_S22R exm1578090 21 46032087 [A/G] NM_001272037,NM_144991,NM_198695 TSPEAR,TSPEAR,KRTAP10-8 EXON Silent,Silent,Missense_V24M exm1578092 21 46032094 [A/G] NM_001272037,NM_144991,NM_198695 TSPEAR,TSPEAR,KRTAP10-8 EXON Silent,Silent,Missense_H26R exm1578093 21 46032102 [T/C] NM_001272037,NM_144991,NM_198695 TSPEAR,TSPEAR,KRTAP10-8 EXON Silent,Silent,Nonsense_R29X exm1578094 21 46032103 [A/G] NM_001272037,NM_144991,NM_198695 TSPEAR,TSPEAR,KRTAP10-8 EXON Silent,Silent,Missense_R29Q exm1984586 21 46032204 [G/C] NM_001272037,NM_144991,NM_198695 TSPEAR,TSPEAR,KRTAP10-8 EXON Silent,Silent,Missense_P63A exm1578111 21 46032373 [A/G] NM_001272037,NM_144991,NM_198695 TSPEAR,TSPEAR,KRTAP10-8 EXON Silent,Silent,Missense_C119Y exm1578112 21 46032400 [A/G] NM_001272037,NM_144991,NM_198695 TSPEAR,TSPEAR,KRTAP10-8 EXON Silent,Silent,Missense_C128Y exm1578113 21 46032411 [T/G] NM_001272037,NM_144991,NM_198695 TSPEAR,TSPEAR,KRTAP10-8 EXON Silent,Silent,Missense_V132L exm1578120 21 46032466 [C/G] NM_001272037,NM_144991,NM_198695 TSPEAR,TSPEAR,KRTAP10-8 EXON Silent,Silent,Missense_S150T exm2273013 21 46042282 [T/G] NM_001272037,NM_144991 TSPEAR,TSPEAR Silent,Silent exm1578237 21 46047863 [T/C] NM_001272037,NM_144991,NM_198690 TSPEAR,TSPEAR,KRTAP10-9 EXON Silent,Silent,Missense_P259S exm1578245 21 46047932 [T/C] NM_001272037,NM_144991,NM_198690 TSPEAR,TSPEAR,KRTAP10-9 EXON Silent,Silent,Missense_Y282H exm1578294 21 46057650 [A/G] NM_001272037,NM_144991,NM_181688 TSPEAR,TSPEAR,KRTAP10-10 EXON Silent,Silent,Missense_V106M exm1578295 21 46057651 [A/T] NM_001272037,NM_144991,NM_181688 TSPEAR,TSPEAR,KRTAP10-10 EXON Silent,Silent,Missense_V106E exm1578296 21 46057656 [A/G] NM_001272037,NM_144991,NM_181688 TSPEAR,TSPEAR,KRTAP10-10 EXON Silent,Silent,Missense_V108I exm1578297 21 46057666 [A/T] NM_001272037,NM_144991,NM_181688 TSPEAR,TSPEAR,KRTAP10-10 EXON Silent,Silent,Missense_K111M exm1578298 21 46057680 [A/G] NM_001272037,NM_144991,NM_181688 TSPEAR,TSPEAR,KRTAP10-10 EXON Silent,Silent,Missense_V116M exm1578304 21 46057720 [A/C] NM_001272037,NM_144991,NM_181688 TSPEAR,TSPEAR,KRTAP10-10 EXON Silent,Silent,Missense_Q129P exm1578394 21 46067036 [T/C] NM_001272037,NM_144991,NM_198692 TSPEAR,TSPEAR,KRTAP10-11 EXON Silent,Silent,Missense_C221R exm1578434 21 46077919 [A/C] NM_001272037,NM_144991,NM_198697 TSPEAR,TSPEAR,KRTAP12-3 EXON Silent,Silent,Missense_P8Q exm1578437 21 46077946 [A/G] NM_001272037,NM_144991,NM_198697 TSPEAR,TSPEAR,KRTAP12-3 EXON Silent,Silent,Missense_H17R exm1578444 21 46078056 [A/G] NM_001272037,NM_144991,NM_198697 TSPEAR,TSPEAR,KRTAP12-3 EXON Silent,Silent,Missense_V54M exm1578445 21 46078062 [A/G] NM_001272037,NM_144991,NM_198697 TSPEAR,TSPEAR,KRTAP12-3 EXON Silent,Silent,Missense_V56M exm1578453 21 46086377 [A/G] NM_001272037,NM_144991,NM_181684 TSPEAR,TSPEAR,KRTAP12-2 EXON Silent,Silent,Missense_S143P exm1578455 21 46086407 [T/C] NM_001272037,NM_144991,NM_181684 TSPEAR,TSPEAR,KRTAP12-2 EXON Silent,Silent,Missense_V133I exm1578458 21 46086457 [A/G] NM_001272037,NM_144991,NM_181684 TSPEAR,TSPEAR,KRTAP12-2 EXON Silent,Silent,Missense_A116V exm1578460 21 46086470 [A/G] NM_001272037,NM_144991,NM_181684 TSPEAR,TSPEAR,KRTAP12-2 EXON Silent,Silent,Missense_P112S exm1578462 21 46086488 [T/C] NM_001272037,NM_144991,NM_181684 TSPEAR,TSPEAR,KRTAP12-2 EXON Silent,Silent,Missense_V106M exm1578466 21 46086521 [A/G] NM_001272037,NM_144991,NM_181684 TSPEAR,TSPEAR,KRTAP12-2 EXON Silent,Silent,Missense_C95R exm1578505 21 46101933 [T/C] NM_001272037,NM_144991,NM_181686 TSPEAR,TSPEAR,KRTAP12-1 EXON Silent,Silent,Missense_V36M exm1578507 21 46101939 [T/C] NM_001272037,NM_144991,NM_181686 TSPEAR,TSPEAR,KRTAP12-1 EXON Silent,Silent,Missense_V34M exm1578511 21 46101992 [A/G] NM_001272037,NM_144991,NM_181686 TSPEAR,TSPEAR,KRTAP12-1 EXON Silent,Silent,Missense_A16V exm1578517 21 46117123 [A/G] NM_001272037,NM_144991,NM_198699 TSPEAR,TSPEAR,KRTAP10-12 EXON Silent,Silent,Missense_V3I exm1578576 21 46131381 [T/C] NM_001272037,NM_144991 TSPEAR,TSPEAR EXON Silent,Missense_G17S exm1578577 21 46131386 [A/G] NM_001272037,NM_144991 TSPEAR,TSPEAR EXON Silent,Missense_A15V exm1578588 21 46191363 [T/G] NM_182688,NM_003343,NM_001202489 UBE2G2,UBE2G2,UBE2G2 EXON Missense_M115L,Missense_M143L,Missense_M73L exm1578595 21 46193528 [T/C] NM_182688,NM_003343,NM_001202489 UBE2G2,UBE2G2,UBE2G2 EXON Missense_A79T,Missense_A107T,Missense_A37T exm1578615 21 46226897 [A/G] NM_006936 SUMO3 EXON Missense_P94L exm1578663 21 46276177 [T/C] NM_004339 PTTG1IP EXON Missense_R127Q exm1578672 21 46281135 [T/C] NM_004339 PTTG1IP EXON Missense_V74I exm1578674 21 46281170 [C/G] NM_004339 PTTG1IP EXON Missense_T62S exm1578676 21 46285310 [A/G] NM_004339 PTTG1IP EXON Synonymous_S56S exm1578688 21 46306709 [T/C] NM_001127491,NM_000211 ITGB2,ITGB2 EXON Missense_S730N,Missense_S730N exm1578696 21 46308638 [A/G] NM_001127491,NM_000211 ITGB2,ITGB2 EXON Missense_R684C,Missense_R684C exm1984739 21 46308755 [A/C] NM_001127491,NM_000211 ITGB2,ITGB2 EXON Missense_A645S,Missense_A645S exm1578720 21 46309312 [A/G] NM_001127491,NM_000211 ITGB2,ITGB2 EXON Missense_R586W,Missense_R586W exm1578729 21 46309895 [A/G] NM_001127491,NM_000211 ITGB2,ITGB2 EXON Missense_P552L,Missense_P552L exm1578754 21 46311770 [A/G] NM_001127491,NM_000211 ITGB2,ITGB2 EXON Missense_R456C,Missense_R456C exm1578755 21 46311778 [T/C] NM_001127491,NM_000211 ITGB2,ITGB2 EXON Missense_S453N,Missense_S453N exm1984759 21 46311816 [G/C] NM_001127491,NM_000211 ITGB2,ITGB2 EXON Missense_Q440H,Missense_Q440H exm1578770 21 46313371 [A/G] NM_001127491,NM_000211 ITGB2,ITGB2 EXON Missense_T391M,Missense_T391M exm2254679 21 46319051 [T/C] NM_001127491,NM_000211 ITGB2,ITGB2 EXON Synonymous_A308A,Synonymous_A308A exm1578789 21 46320235 [A/G] NM_001127491,NM_000211 ITGB2,ITGB2 EXON Synonymous_F299F,Synonymous_F299F exm1578792 21 46320279 [A/G] NM_001127491,NM_000211 ITGB2,ITGB2 EXON Missense_R285C,Missense_R285C exm1578793 21 46320285 [T/C] NM_001127491,NM_000211 ITGB2,ITGB2 EXON Missense_D283N,Missense_D283N exm1578800 21 46320323 [A/G] NM_001127491,NM_000211 ITGB2,ITGB2 EXON Missense_A270V,Missense_A270V exm1578803 21 46320327 [A/G] NM_001127491,NM_000211 ITGB2,ITGB2 EXON Missense_F269L,Missense_F269L exm1578827 21 46321586 [A/G] NM_001127491,NM_000211 ITGB2,ITGB2 EXON Nonsense_R188X,Nonsense_R188X exm1578841 21 46323421 [A/G] NM_001127491,NM_000211 ITGB2,ITGB2 EXON Missense_R120W,Missense_R120W exm1578848 21 46326847 [A/G] NM_001127491,NM_000211 ITGB2,ITGB2 EXON Missense_T104M,Missense_T104M exm1578852 21 46326929 [T/C] NM_001127491,NM_000211 ITGB2,ITGB2 EXON Missense_D77N,Missense_D77N exm1984793 21 46330685 [A/G] NM_001127491,NM_000211 ITGB2,ITGB2 EXON Missense_R5C,Missense_R5C exm2272989 21 46334472 [T/C] NM_001127491,NM_000211 ITGB2,ITGB2 Silent,Silent exm1578947 21 46363680 [A/G] NM_058190 FAM207A EXON Missense_V71M exm1578952 21 46363734 [A/G] NM_058190 FAM207A EXON Missense_V89I exm1578956 21 46380068 [A/G] NM_058190 FAM207A EXON Missense_E113K exm1578958 21 46386993 [T/C] NM_058190 FAM207A EXON Missense_R133W exm1578981 21 46393122 [A/G] NM_058190 FAM207A EXON Missense_N171D exm1578987 21 46396605 [A/G] NM_058190 FAM207A EXON Missense_R194G exm1579052 21 46604922 [A/G] NM_001160230,NM_015834,NM_015833,NR_027674,NM_001112,NR_073200,NR_027672,NR_027673 ADARB1,ADARB1,ADARB1,ADARB1,ADARB1,ADARB1,ADARB1,ADARB1 EXON Missense_R494H,Missense_R534H,Missense_R534H,Silent,Missense_R494H,Silent,Silent,Silent exm1579055 21 46624486 [A/G] NM_001160230,NM_015834,NM_015833,NR_027674,NM_001112,NR_073200,NR_027672,NR_027673 ADARB1,ADARB1,ADARB1,ADARB1,ADARB1,ADARB1,ADARB1,ADARB1 EXON Missense_I528V,Missense_I568V,Missense_I568V,Silent,Missense_I528V,Silent,Silent,Silent exm1579090 21 46685470 [A/G] NM_015227,NR_004858,NM_133635 POFUT2,POFUT2,POFUT2 EXON Silent,Silent,Missense_T406M exm1579094 21 46685550 [T/C] NM_015227,NR_004858,NM_133635 POFUT2,POFUT2,POFUT2 EXON Silent,Silent,Synonymous_R379R exm1579104 21 46687413 [G/C] NM_015227,NR_004858,NM_133635 POFUT2,POFUT2,POFUT2 EXON Missense_A410P,Silent,Silent exm1579108 21 46687469 [A/G] NM_015227,NR_004858,NM_133635 POFUT2,POFUT2,POFUT2 EXON Missense_S391L,Silent,Silent exm1579114 21 46687542 [T/C] NM_015227,NR_004858,NM_133635 POFUT2,POFUT2,POFUT2 EXON Missense_V367I,Silent,Missense_V367I exm1579115 21 46687595 [A/G] NM_015227,NR_004858,NM_133635 POFUT2,POFUT2,POFUT2 EXON Missense_M349T,Silent,Missense_M349T exm1579117 21 46689763 [T/C] NM_015227,NR_004858,NM_133635 POFUT2,POFUT2,POFUT2 EXON Missense_V335I,Silent,Missense_V335I exm1579118 21 46689795 [T/C] NM_015227,NR_004858,NM_133635 POFUT2,POFUT2,POFUT2 EXON Missense_R324Q,Silent,Missense_R324Q exm1579119 21 46689813 [G/C] NM_015227,NR_004858,NM_133635 POFUT2,POFUT2,POFUT2 EXON Missense_S318T,Silent,Missense_S318T exm1579130 21 46689919 [T/C] NM_015227,NR_004858,NM_133635 POFUT2,POFUT2,POFUT2 EXON Missense_A283T,Silent,Missense_A283T exm1579148 21 46702264 [T/C] NM_015227,NR_004858,NM_133635 POFUT2,POFUT2,POFUT2 EXON Missense_R213Q,Silent,Missense_R213Q exm1579150 21 46702319 [T/C] NM_015227,NR_004858,NM_133635 POFUT2,POFUT2,POFUT2 EXON Missense_V195I,Silent,Missense_V195I exm1579158 21 46703410 [T/C] NM_015227,NR_004858,NM_133635 POFUT2,POFUT2,POFUT2 EXON Missense_V139I,Silent,Missense_V139I exm1579164 21 46705617 [T/C] NM_015227,NR_004858,NM_133635 POFUT2,POFUT2,POFUT2 EXON Missense_I120V,Silent,Missense_I120V exm1579165 21 46705620 [T/C] NM_015227,NR_004858,NM_133635 POFUT2,POFUT2,POFUT2 EXON Missense_V119I,Silent,Missense_V119I exm1579169 21 46705748 [A/G] NM_015227,NR_004858,NM_133635 POFUT2,POFUT2,POFUT2 EXON Missense_T76M,Silent,Missense_T76M exm2264732 21 46768530 [A/C] exm1579281 21 46875500 [T/C] NM_130445,NM_030582 COL18A1,COL18A1 EXON Silent,Missense_A19V exm1579285 21 46875575 [T/C] NM_130445,NM_030582 COL18A1,COL18A1 EXON Silent,Missense_T44M exm1579287 21 46875586 [C/G] NM_130445,NM_030582 COL18A1,COL18A1 EXON Silent,Missense_P48A exm1579304 21 46875775 [A/G] NM_130445,NM_030582 COL18A1,COL18A1 EXON Silent,Missense_G111R exm1579309 21 46875817 [A/G] NM_130445,NM_030582 COL18A1,COL18A1 EXON Silent,Missense_V125I exm1579312 21 46875874 [A/G] NM_130445,NM_030582 COL18A1,COL18A1 EXON Silent,Missense_V144I exm1579315 21 46875946 [C/G] NM_130445,NM_030582 COL18A1,COL18A1 EXON Silent,Missense_L168V exm1579316 21 46875959 [A/G] NM_130445,NM_030582 COL18A1,COL18A1 EXON Silent,Missense_R172H exm1579317 21 46875961 [A/G] NM_130445,NM_030582 COL18A1,COL18A1 EXON Silent,Missense_G173S exm1579318 21 46875982 [A/G] NM_130445,NM_030582 COL18A1,COL18A1 EXON Silent,Missense_A180T exm1579320 21 46876004 [T/C] NM_130445,NM_030582 COL18A1,COL18A1 EXON Silent,Missense_T187I exm1579323 21 46876044 [T/G] NM_130445,NM_030582 COL18A1,COL18A1 EXON Silent,Missense_R200S exm1579324 21 46876045 [T/C] NM_130445,NM_030582 COL18A1,COL18A1 EXON Silent,Missense_P201S exm1579360 21 46888225 [T/C] NM_130445,NM_030582 COL18A1,COL18A1 EXON Missense_T59M,Missense_T239M exm1579364 21 46888290 [T/C] NM_130445,NM_030582 COL18A1,COL18A1 EXON Missense_R81W,Missense_R261W exm1579368 21 46888344 [T/C] NM_130445,NM_030582 COL18A1,COL18A1 EXON Missense_R99W,Missense_R279W exm1579372 21 46888401 [A/C] NM_130445,NM_030582 COL18A1,COL18A1 EXON Missense_M118L,Missense_M298L exm1579380 21 46888545 [A/G] NM_130445,NM_030582 COL18A1,COL18A1 EXON Missense_A166T,Missense_A346T exm1579388 21 46888662 [A/G] NM_130445,NM_030582 COL18A1,COL18A1 EXON Missense_V205M,Missense_V385M exm1579395 21 46893848 [A/G] NM_130445,NM_030582 COL18A1,COL18A1 EXON Missense_V231M,Missense_V411M exm1579398 21 46895394 [T/C] NM_130445,NM_030582 COL18A1,COL18A1 EXON Missense_S248F,Missense_S428F exm1579414 21 46896338 [T/C] NM_130445,NM_030582 COL18A1,COL18A1 EXON Missense_T291M,Missense_T471M exm1579419 21 46896386 [T/C] NM_130445,NM_030582 COL18A1,COL18A1 EXON Missense_S307L,Missense_S487L exm1579429 21 46897667 [A/G] NM_130445,NM_030582 COL18A1,COL18A1 EXON Missense_G337S,Missense_G517S exm1579452 21 46899859 [T/C] NM_130445,NM_030582 COL18A1,COL18A1 EXON Missense_V431A,Missense_V611A exm1579466 21 46900062 [A/G] NM_130445,NM_030582 COL18A1,COL18A1 EXON Missense_D464N,Missense_D644N exm1579501 21 46902721 [A/G] NM_130445,NM_030582 COL18A1,COL18A1 EXON Missense_A563T,Missense_A743T exm1579525 21 46910210 [A/G] NM_130445,NM_030582 COL18A1,COL18A1 EXON Missense_V661I,Missense_V841I exm1579541 21 46911188 [G/C] NM_130445,NM_030582 COL18A1,COL18A1 EXON Missense_P706R,Missense_P886R exm1579548 21 46912464 [A/G] NM_130445,NM_030582 COL18A1,COL18A1 EXON Missense_V725M,Missense_V905M exm1579553 21 46912605 [A/G] NM_130445,NM_030582 COL18A1,COL18A1 EXON Missense_R731Q,Missense_R911Q exm1984951 21 46912627 [T/C] NM_130445,NM_030582 COL18A1,COL18A1 EXON Synonymous_P738P,Synonymous_P918P exm1579579 21 46914788 [T/C] NM_130445,NM_030582 COL18A1,COL18A1 EXON Missense_R798W,Missense_R978W exm1579580 21 46914829 [A/G] NM_130445,NM_030582 COL18A1,COL18A1 EXON Synonymous_P811P,Synonymous_P991P exm1579595 21 46916964 [T/G] NM_130445,NM_030582 COL18A1,COL18A1 EXON Missense_V860L,Missense_V1040L exm1579611 21 46923934 [T/C] NM_130445,NM_030582 COL18A1,COL18A1 EXON Missense_P898L,Missense_P1078L exm1579630 21 46924451 [A/G] NM_130445,NM_030582 COL18A1,COL18A1 EXON Missense_R947H,Missense_R1127H exm1579645 21 46925280 [A/G] NM_130445,NM_030582 COL18A1,COL18A1 EXON Missense_V1005I,Missense_V1185I exm1984978 21 46925771 [A/G] NM_130445,NM_030582 COL18A1,COL18A1 EXON Missense_R1033H,Missense_R1213H exm1579652 21 46925797 [A/G] NM_130445,NM_030582 COL18A1,COL18A1 EXON Missense_E1042K,Missense_E1222K exm1579654 21 46925806 [A/G] NM_130445,NM_030582 COL18A1,COL18A1 EXON Missense_E1045K,Missense_E1225K exm1579670 21 46927500 [A/G] NM_130445,NM_030582 COL18A1,COL18A1 EXON Missense_R1078Q,Missense_R1258Q exm1579704 21 46930092 [A/G] NM_130445,NM_030582 COL18A1,COL18A1 EXON Missense_A1201T,Missense_A1381T exm1579710 21 46930138 [A/G] NM_130445,NM_030582 COL18A1,COL18A1 EXON Missense_R1216H,Missense_R1396H exm1579712 21 46930147 [A/G] NM_130445,NM_030582 COL18A1,COL18A1 EXON Missense_R1219H,Missense_R1399H exm1579714 21 46930155 [A/G] NM_130445,NM_030582 COL18A1,COL18A1 EXON Missense_V1222M,Missense_V1402M exm1579725 21 46931109 [A/G] NM_130445,NM_030582 COL18A1,COL18A1 EXON Missense_D1257N,Missense_D1437N exm1579727 21 46931121 [A/G] NM_130445,NM_030582 COL18A1,COL18A1 EXON Missense_V1261I,Missense_V1441I exm1579728 21 46932115 [T/G] NM_130445,NM_030582 COL18A1,COL18A1 EXON Missense_V1272L,Missense_V1452L exm1579729 21 46932127 [T/G] NM_130445,NM_030582 COL18A1,COL18A1 EXON Missense_S1276A,Missense_S1456A exm1579731 21 46932143 [A/G] NM_130445,NM_030582 COL18A1,COL18A1 EXON Missense_R1281H,Missense_R1461H exm1579744 21 46932257 [A/G] NM_130445,NM_030582 COL18A1,COL18A1 EXON Missense_H1319R,Missense_H1499R exm1579761 21 46935756 [A/G] NM_001205206,NM_194255,NM_001205207 SLC19A1,SLC19A1,SLC19A1 EXON Silent,Missense_P531L,Missense_P491L exm1579763 21 46935784 [T/C] NM_001205206,NM_194255,NM_001205207 SLC19A1,SLC19A1,SLC19A1 EXON Silent,Missense_D522N,Missense_D482N exm1579766 21 46935817 [A/C] NM_001205206,NM_194255,NM_001205207 SLC19A1,SLC19A1,SLC19A1 EXON Silent,Missense_V511L,Missense_V471L exm1579769 21 46935942 [A/G] NM_001205206,NM_194255,NM_001205207 SLC19A1,SLC19A1,SLC19A1 EXON Silent,Missense_A469V,Missense_A429V exm1579773 21 46935976 [A/C] NM_001205206,NM_194255,NM_001205207 SLC19A1,SLC19A1,SLC19A1 EXON Silent,Missense_C458G,Missense_C418G exm1579796 21 46950774 [A/G] NM_001205206,NM_194255,NM_001205207 SLC19A1,SLC19A1,SLC19A1 EXON Missense_A354V,Missense_A354V,Missense_A314V exm1579798 21 46950811 [A/C] NM_001205206,NM_194255,NM_001205207 SLC19A1,SLC19A1,SLC19A1 EXON Missense_V342F,Missense_V342F,Missense_V302F exm1579803 21 46950864 [A/G] NM_001205206,NM_194255,NM_001205207 SLC19A1,SLC19A1,SLC19A1 EXON Missense_A324V,Missense_A324V,Missense_A284V exm1579818 21 46951566 [T/C] NM_001205206,NM_194255,NM_001205207 SLC19A1,SLC19A1,SLC19A1 EXON Missense_R229H,Missense_R229H,Missense_R189H exm2235149 21 46951968 [A/G] NM_001205206,NM_194255,NM_001205207 SLC19A1,SLC19A1,SLC19A1 EXON Missense_V95A,Missense_V95A,Missense_V55A exm2235150 21 46957695 [A/G] NM_001205206,NM_194255 SLC19A1,SLC19A1 EXON Missense_T60M,Missense_T60M exm1579856 21 46957794 [T/C] NM_001205206,NM_194255 SLC19A1,SLC19A1 EXON Missense_H27R,Missense_H27R exm1579891 21 47333895 [T/C] NM_020528,NM_001130141 PCBP3,PCBP3 EXON Missense_R211C,Silent exm2235152 21 47349909 [A/G] NM_020528,NM_001130141 PCBP3,PCBP3 EXON Missense_G266R,Missense_G240R exm1579924 21 47361589 [T/C] NM_020528,NM_001130141 PCBP3,PCBP3 EXON Missense_T362M,Missense_T336M exm1579936 21 47402620 [A/C] NM_001848 COL6A1 EXON Missense_A57D exm1579940 21 47402652 [T/C] NM_001848 COL6A1 EXON Missense_R68C exm1579943 21 47404223 [A/G] NM_001848 COL6A1 EXON Missense_A90T exm1579947 21 47404302 [A/G] NM_001848 COL6A1 EXON Missense_S116N exm1579948 21 47404304 [A/G] NM_001848 COL6A1 EXON Missense_V117M exm1579949 21 47404305 [T/C] NM_001848 COL6A1 EXON Missense_V117A exm1985090 21 47410319 [A/G] NM_001848 COL6A1 EXON Missense_G329R exm1580029 21 47410727 [T/C] NM_001848 COL6A1 EXON Missense_S348L exm1580032 21 47410740 [T/C] NM_001848 COL6A1 EXON Synonymous_D352D exm1580035 21 47410932 [A/G] NM_001848 COL6A1 EXON Missense_A366T exm1580036 21 47410951 [A/G] NM_001848 COL6A1 EXON Missense_E372G exm1580061 21 47412687 [A/G] NM_001848 COL6A1 EXON Missense_R433Q exm1580065 21 47412705 [A/G] NM_001848 COL6A1 EXON Missense_R439Q exm2272990 21 47417303 [T/C] NM_001848 COL6A1 Silent exm1580096 21 47418063 [A/C] NM_001848 COL6A1 EXON Missense_T518N exm1580100 21 47418347 [T/C] NM_001848 COL6A1 EXON Synonymous_N537N exm1580115 21 47419073 [A/G] NM_001848 COL6A1 EXON Missense_D561N exm1580117 21 47419100 [A/G] NM_001848 COL6A1 EXON Missense_A570T exm1580127 21 47419606 [T/C] NM_001848 COL6A1 EXON Synonymous_D592D exm1580162 21 47421947 [T/C] NM_001848 COL6A1 EXON Missense_R677C exm1580166 21 47421960 [T/C] NM_001848 COL6A1 EXON Missense_I681T exm1580167 21 47421963 [A/G] NM_001848 COL6A1 EXON Missense_R682Q exm1580188 21 47422538 [A/G] NM_001848 COL6A1 EXON Missense_R783Q exm1580201 21 47423040 [A/G] NM_001848 COL6A1 EXON Missense_K814R exm1580209 21 47423389 [A/G] NM_001848 COL6A1 EXON Missense_R850H exm1580217 21 47423482 [T/C] NM_001848 COL6A1 EXON Missense_T881M exm1580222 21 47423509 [T/C] NM_001848 COL6A1 EXON Missense_S890L exm1580225 21 47423556 [A/G] NM_001848 COL6A1 EXON Missense_A906T exm1580240 21 47423640 [A/G] NM_001848 COL6A1 EXON Missense_A934T exm1580241 21 47423649 [A/G] NM_001848 COL6A1 EXON Missense_K937E exm1580258 21 47423808 [A/C] NM_001848 COL6A1 EXON Missense_K990Q exm1580265 21 47423869 [A/G] NM_001848 COL6A1 EXON Missense_Q1010R exm-rs4293630 21 47445791 [A/G] exm1580289 21 47531965 [T/C] NM_058175,NM_058174,NM_001849 COL6A2,COL6A2,COL6A2 EXON Missense_T63M,Missense_T63M,Missense_T63M exm1580297 21 47532006 [T/C] NM_058175,NM_058174,NM_001849 COL6A2,COL6A2,COL6A2 EXON Missense_F77L,Missense_F77L,Missense_F77L exm1580301 21 47532049 [T/C] NM_058175,NM_058174,NM_001849 COL6A2,COL6A2,COL6A2 EXON Missense_A91V,Missense_A91V,Missense_A91V exm1580304 21 47532093 [A/G] NM_058175,NM_058174,NM_001849 COL6A2,COL6A2,COL6A2 EXON Missense_E106K,Missense_E106K,Missense_E106K exm1580307 21 47532121 [A/G] NM_058175,NM_058174,NM_001849 COL6A2,COL6A2,COL6A2 EXON Missense_R115Q,Missense_R115Q,Missense_R115Q exm1580313 21 47532223 [A/G] NM_058175,NM_058174,NM_001849 COL6A2,COL6A2,COL6A2 EXON Missense_R149H,Missense_R149H,Missense_R149H exm1580318 21 47532276 [A/G] NM_058175,NM_058174,NM_001849 COL6A2,COL6A2,COL6A2 EXON Missense_G167S,Missense_G167S,Missense_G167S exm1580321 21 47532288 [A/G] NM_058175,NM_058174,NM_001849 COL6A2,COL6A2,COL6A2 EXON Missense_G171R,Missense_G171R,Missense_G171R exm1580335 21 47532405 [A/G] NM_058175,NM_058174,NM_001849 COL6A2,COL6A2,COL6A2 EXON Missense_E210K,Missense_E210K,Missense_E210K exm1580342 21 47532456 [A/G] NM_058175,NM_058174,NM_001849 COL6A2,COL6A2,COL6A2 EXON Missense_D227N,Missense_D227N,Missense_D227N exm1580359 21 47533977 [A/G] NM_058175,NM_058174,NM_001849 COL6A2,COL6A2,COL6A2 EXON Missense_R264H,Missense_R264H,Missense_R264H exm1580361 21 47535816 [A/G] NM_058175,NM_058174,NM_001849 COL6A2,COL6A2,COL6A2 EXON Missense_E278K,Missense_E278K,Missense_E278K exm1580393 21 47538541 [A/G] NM_058175,NM_058174,NM_001849 COL6A2,COL6A2,COL6A2 EXON Missense_R377H,Missense_R377H,Missense_R377H exm1580399 21 47538960 [A/G] NM_058175,NM_058174,NM_001849 COL6A2,COL6A2,COL6A2 EXON Missense_S399N,Missense_S399N,Missense_S399N exm1580405 21 47539744 [A/G] NM_058175,NM_058174,NM_001849 COL6A2,COL6A2,COL6A2 EXON Missense_D438N,Missense_D438N,Missense_D438N exm1580419 21 47541477 [A/G] NM_058175,NM_058174,NM_001849 COL6A2,COL6A2,COL6A2 EXON Missense_R489Q,Missense_R489Q,Missense_R489Q exm1580421 21 47541500 [A/C] NM_058175,NM_058174,NM_001849 COL6A2,COL6A2,COL6A2 EXON Missense_P497T,Missense_P497T,Missense_P497T exm1580432 21 47542052 [T/C] NM_058175,NM_058174,NM_001849 COL6A2,COL6A2,COL6A2 EXON Missense_P518S,Missense_P518S,Missense_P518S exm1580437 21 47542422 [A/G] NM_058175,NM_058174,NM_001849 COL6A2,COL6A2,COL6A2 EXON Missense_E529K,Missense_E529K,Missense_E529K exm1580440 21 47542443 [A/G] NM_058175,NM_058174,NM_001849 COL6A2,COL6A2,COL6A2 EXON Missense_E536K,Missense_E536K,Missense_E536K exm1985233 21 47544599 [A/G] NM_058175,NM_058174,NM_001849 COL6A2,COL6A2,COL6A2 EXON Missense_R569Q,Missense_R569Q,Missense_R569Q exm1580500 21 47545731 [A/G] NM_058175,NM_058174,NM_001849 COL6A2,COL6A2,COL6A2 EXON Missense_E668K,Missense_E668K,Missense_E668K exm1580505 21 47545768 [A/G] NM_058175,NM_058174,NM_001849 COL6A2,COL6A2,COL6A2 EXON Missense_R680H,Missense_R680H,Missense_R680H exm1580520 21 47545899 [T/C] NM_058175,NM_058174,NM_001849 COL6A2,COL6A2,COL6A2 EXON Missense_R724C,Missense_R724C,Missense_R724C exm1580526 21 47545962 [T/C] NM_058175,NM_058174,NM_001849 COL6A2,COL6A2,COL6A2 EXON Missense_R745W,Missense_R745W,Missense_R745W exm1580528 21 47545972 [A/G] NM_058175,NM_058174,NM_001849 COL6A2,COL6A2,COL6A2 EXON Missense_C748Y,Missense_C748Y,Missense_C748Y exm1580544 21 47546061 [A/G] NM_058175,NM_058174,NM_001849 COL6A2,COL6A2,COL6A2 EXON Missense_D778N,Missense_D778N,Missense_D778N exm1580546 21 47546080 [A/G] NM_058175,NM_058174,NM_001849 COL6A2,COL6A2,COL6A2 EXON Missense_R784H,Missense_R784H,Missense_R784H exm1580549 21 47546139 [A/G] NM_058175,NM_058174,NM_001849 COL6A2,COL6A2,COL6A2 EXON Missense_V804I,Missense_V804I,Missense_V804I exm1580563 21 47548825 [A/G] NM_058175,NM_058174,NM_001849 COL6A2,COL6A2,COL6A2 EXON Missense_G824R,Silent,Silent exm1580573 21 47549115 [A/C] NM_058175,NM_058174,NM_001849 COL6A2,COL6A2,COL6A2 EXON Silent,Missense_P823T,Silent exm1580603 21 47549377 [T/A] NM_058175,NM_058174,NM_001849 COL6A2,COL6A2,COL6A2 EXON Silent,Missense_D910V,Silent exm1580612 21 47551909 [A/G] NM_001849 COL6A2 EXON Missense_V835I exm1580617 21 47551934 [A/G] NM_001849 COL6A2 EXON Missense_R843Q exm1580622 21 47551964 [A/G] NM_001849 COL6A2 EXON Missense_R853Q exm1580633 21 47552005 [T/C] NM_001849 COL6A2 EXON Missense_R867W exm1580634 21 47552006 [A/G] NM_001849 COL6A2 EXON Missense_R867Q exm1580637 21 47552014 [A/G] NM_001849 COL6A2 EXON Missense_D870N exm1580650 21 47552089 [A/C] NM_001849 COL6A2 EXON Missense_S895R exm1580658 21 47552155 [A/G] NM_001849 COL6A2 EXON Missense_V917M exm1580662 21 47552191 [A/G] NM_001849 COL6A2 EXON Missense_V929M exm1580664 21 47552201 [T/C] NM_001849 COL6A2 EXON Missense_P932L exm1580683 21 47552288 [T/C] NM_001849 COL6A2 EXON Missense_A961V exm1580687 21 47552299 [T/C] NM_001849 COL6A2 EXON Missense_R965C exm1580688 21 47552300 [A/G] NM_001849 COL6A2 EXON Missense_R965H exm1580693 21 47552323 [A/G] NM_001849 COL6A2 EXON Missense_V973M exm1580696 21 47552333 [T/C] NM_001849 COL6A2 EXON Missense_L976S exm1580698 21 47552341 [A/G] NM_001849 COL6A2 EXON Missense_D979N exm1985308 21 47552350 [A/G] NM_001849 COL6A2 EXON Missense_M982V exm1580704 21 47552386 [A/G] NM_001849 COL6A2 EXON Missense_A994T exm1580706 21 47552389 [A/G] NM_001849 COL6A2 EXON Missense_A995T exm1580707 21 47552392 [A/G] NM_001849 COL6A2 EXON Missense_V996M exm1580710 21 47552404 [A/G] NM_001849 COL6A2 EXON Missense_K1000E exm1580711 21 47552423 [T/C] NM_001849 COL6A2 EXON Missense_A1006V exm1580713 21 47552431 [A/G] NM_001849 COL6A2 EXON Missense_G1009S exm1580715 21 47552449 [A/C] NM_001849 COL6A2 EXON Missense_I1015L exm1985319 21 47556899 [T/C] NM_006657,NM_206965 FTCD,FTCD EXON Silent,Silent exm1580730 21 47556900 [A/G] NM_006657,NM_206965 FTCD,FTCD EXON Silent,Silent exm1580735 21 47556936 [T/G] NM_006657,NM_206965 FTCD,FTCD EXON Missense_L531M,Missense_L531M exm1580737 21 47556984 [A/G] NM_006657,NM_206965 FTCD,FTCD EXON Missense_H515Y,Missense_H515Y exm1985325 21 47557244 [A/G] NM_006657,NM_206965 FTCD,FTCD EXON Missense_A483V,Missense_A483V exm1580750 21 47558501 [A/G] NM_006657,NM_206965 FTCD,FTCD EXON Missense_A455V,Missense_A455V exm1580751 21 47558507 [A/G] NM_006657,NM_206965 FTCD,FTCD EXON Missense_T453M,Missense_T453M exm1580753 21 47558528 [T/C] NM_006657,NM_206965 FTCD,FTCD EXON Missense_R446Q,Missense_R446Q exm1580754 21 47558529 [A/G] NM_006657,NM_206965 FTCD,FTCD EXON Missense_R446W,Missense_R446W exm1580757 21 47558552 [A/G] NM_006657,NM_206965 FTCD,FTCD EXON Missense_A438V,Missense_A438V exm1580759 21 47558559 [A/G] NM_006657,NM_206965 FTCD,FTCD EXON Missense_R436C,Missense_R436C exm1580765 21 47558810 [A/G] NM_006657,NM_206965 FTCD,FTCD EXON Missense_P430S,Missense_P430S exm1580772 21 47565371 [T/G] NM_006657,NM_206965 FTCD,FTCD EXON Missense_T407K,Missense_T407K exm1580785 21 47566189 [T/C] NM_006657,NM_206965 FTCD,FTCD EXON Missense_R320Q,Missense_R320Q exm1580800 21 47570399 [A/G] NM_006657,NM_206965 FTCD,FTCD EXON Missense_L226P,Missense_L226P exm1580801 21 47570432 [T/C] NM_006657,NM_206965 FTCD,FTCD EXON Missense_R215H,Missense_R215H exm1580802 21 47570433 [A/G] NM_006657,NM_206965 FTCD,FTCD EXON Missense_R215C,Missense_R215C exm1985351 21 47571485 [T/C] NM_006657,NM_206965 FTCD,FTCD EXON Missense_R208H,Missense_R208H exm1580809 21 47571510 [T/C] NM_006657,NM_206965 FTCD,FTCD EXON Missense_A200T,Missense_A200T exm1985354 21 47571632 [A/G] NM_006657,NM_206965 FTCD,FTCD EXON Missense_A159V,Missense_A159V exm1580818 21 47571638 [A/T] NM_006657,NM_206965 FTCD,FTCD EXON Missense_D157V,Missense_D157V exm1580823 21 47571855 [T/C] NM_006657,NM_206965 FTCD,FTCD EXON Missense_R136Q,Missense_R136Q exm1580824 21 47571880 [T/C] NM_006657,NM_206965 FTCD,FTCD EXON Missense_E128K,Missense_E128K exm1580829 21 47572887 [T/C] NM_006657,NM_206965 FTCD,FTCD EXON Missense_V101M,Missense_V101M exm1580834 21 47572902 [T/C] NM_006657,NM_206965 FTCD,FTCD EXON Missense_V96M,Missense_V96M exm1580870 21 47581411 [A/G] NM_032261,NM_001142854 SPATC1L,SPATC1L EXON Missense_A148V,Missense_A302V exm1580871 21 47581423 [T/C] NM_032261,NM_001142854 SPATC1L,SPATC1L EXON Missense_S144N,Missense_S298N exm1580872 21 47581435 [T/A] NM_032261,NM_001142854 SPATC1L,SPATC1L EXON Missense_N140I,Missense_N294I exm1580875 21 47581508 [A/C] NM_032261,NM_001142854 SPATC1L,SPATC1L EXON Missense_V116L,Missense_V270L exm1580885 21 47581835 [T/C] NM_032261,NM_001142854 SPATC1L,SPATC1L EXON Missense_E77K,Missense_E231K exm1580900 21 47581949 [T/C] NM_032261,NM_001142854 SPATC1L,SPATC1L EXON Missense_A39T,Missense_A193T exm1580902 21 47581961 [A/C] NM_032261,NM_001142854 SPATC1L,SPATC1L EXON Missense_A35S,Missense_A189S exm1985375 21 47588233 [T/C] NM_032261,NM_001142854 SPATC1L,SPATC1L EXON Missense_Y24C,Missense_Y178C exm1580910 21 47588365 [A/G] NM_032261,NM_001142854 SPATC1L,SPATC1L EXON Silent,Missense_S134F exm1580915 21 47588465 [T/C] NM_032261,NM_001142854 SPATC1L,SPATC1L EXON Silent,Missense_D101N exm1580926 21 47602691 [T/C] NM_032261,NM_001142854 SPATC1L,SPATC1L EXON Silent,Missense_E14K exm1580944 21 47611799 [A/G] NM_001001438,NM_001145436,NM_002340,NM_001145437 LSS,LSS,LSS,LSS EXON Missense_P688L,Missense_P677L,Missense_P688L,Missense_P608L exm1580955 21 47614469 [A/C] NM_001001438,NM_001145436,NM_002340,NM_001145437 LSS,LSS,LSS,LSS EXON Missense_L642V,Missense_L631V,Missense_L642V,Missense_L562V exm1580961 21 47614553 [A/G] NM_001001438,NM_001145436,NM_002340,NM_001145437 LSS,LSS,LSS,LSS EXON Missense_R614W,Missense_R603W,Missense_R614W,Missense_R534W exm1580987 21 47626586 [T/C] NM_001001438,NM_001145436,NM_002340,NM_001145437 LSS,LSS,LSS,LSS EXON Missense_G522R,Missense_G511R,Missense_G522R,Missense_G442R exm1580990 21 47626630 [T/C] NM_001001438,NM_001145436,NM_002340,NM_001145437 LSS,LSS,LSS,LSS EXON Missense_R507H,Missense_R496H,Missense_R507H,Missense_R427H exm1581038 21 47635176 [T/C] NM_001001438,NM_001145436,NM_002340,NM_001145437 LSS,LSS,LSS,LSS EXON Missense_H310R,Missense_H299R,Missense_H310R,Missense_H230R exm1581042 21 47635212 [A/G] NM_001001438,NM_001145436,NM_002340,NM_001145437 LSS,LSS,LSS,LSS EXON Missense_A298V,Missense_A287V,Missense_A298V,Missense_A218V exm1581048 21 47635631 [A/G] NM_001001438,NM_001145436,NM_002340,NM_001145437 LSS,LSS,LSS,LSS EXON Missense_T287M,Missense_T276M,Missense_T287M,Missense_T207M exm1581055 21 47635686 [T/C] NM_001001438,NM_001145436,NM_002340,NM_001145437 LSS,LSS,LSS,LSS EXON Missense_A269T,Missense_A258T,Missense_A269T,Missense_A189T exm1581059 21 47636334 [A/G] NM_001001438,NM_001145436,NM_002340,NM_001145437 LSS,LSS,LSS,LSS EXON Missense_A251V,Missense_A240V,Missense_A251V,Missense_A171V exm1581067 21 47636418 [A/G] NM_001001438,NM_001145436,NM_002340,NM_001145437 LSS,LSS,LSS,LSS EXON Missense_P223L,Missense_P212L,Missense_P223L,Missense_P143L exm1581070 21 47639392 [T/C] NM_001001438,NM_001145436,NM_002340,NM_001145437 LSS,LSS,LSS,LSS EXON Missense_M215I,Missense_M204I,Missense_M215I,Missense_M135I exm1581071 21 47639417 [G/C] NM_001001438,NM_001145436,NM_002340,NM_001145437 LSS,LSS,LSS,LSS EXON Missense_G207A,Missense_G196A,Missense_G207A,Missense_G127A exm1581074 21 47639478 [T/C] NM_001001438,NM_001145436,NM_002340,NM_001145437 LSS,LSS,LSS,LSS EXON Missense_V187M,Missense_V176M,Missense_V187M,Missense_V107M exm1581077 21 47641777 [T/G] NM_001001438,NM_001145436,NM_002340,NM_001145437 LSS,LSS,LSS,LSS EXON Missense_H181N,Missense_H170N,Missense_H181N,Missense_H101N exm1581079 21 47641794 [T/C] NM_001001438,NM_001145436,NM_002340,NM_001145437 LSS,LSS,LSS,LSS EXON Missense_R175Q,Missense_R164Q,Missense_R175Q,Missense_R95Q exm1581085 21 47642578 [A/G] NM_001001438,NM_001145436,NM_002340,NM_001145437 LSS,LSS,LSS,LSS EXON Missense_R132W,Missense_R132W,Missense_R132W,Missense_R52W exm1581089 21 47642625 [T/C] NM_001001438,NM_001145436,NM_002340,NM_001145437 LSS,LSS,LSS,LSS EXON Missense_R116H,Missense_R116H,Missense_R116H,Missense_R36H exm1581090 21 47642626 [A/G] NM_001001438,NM_001145436,NM_002340,NM_001145437 LSS,LSS,LSS,LSS EXON Missense_R116C,Missense_R116C,Missense_R116C,Missense_R36C exm1581105 21 47648436 [T/C] NM_001001438,NM_001145436,NM_002340,NM_001145437 LSS,LSS,LSS,LSS EXON Missense_R31K,Missense_R31K,Missense_R31K,Silent exm1985428 21 47655294 [A/G] NR_002776,NM_003906 MCM3AP-AS1,MCM3AP EXON Silent,Missense_T1944M exm1581123 21 47655327 [T/C] NR_002776,NM_003906 MCM3AP-AS1,MCM3AP EXON Silent,Missense_R1933K exm1581127 21 47656751 [T/C] NR_002776,NM_003906 MCM3AP-AS1,MCM3AP EXON Silent,Missense_S1926G exm1581135 21 47660749 [A/C] NR_002776,NM_003906 MCM3AP-AS1,MCM3AP EXON Silent,Missense_L1870R exm1985434 21 47660803 [A/G] NR_002776,NM_003906 MCM3AP-AS1,MCM3AP EXON Silent,Missense_M1852T exm1581141 21 47660867 [A/G] NR_002776,NM_003906 MCM3AP-AS1,MCM3AP EXON Silent,Missense_R1831C exm1581150 21 47662815 [A/G] NR_002776,NM_003906 MCM3AP-AS1,MCM3AP EXON Silent,Missense_V1776A exm1581153 21 47663396 [T/C] NR_002776,NM_003906 MCM3AP-AS1,MCM3AP EXON Silent,Missense_R1760Q exm1581157 21 47663439 [T/C] NR_002776,NM_003906 MCM3AP-AS1,MCM3AP EXON Silent,Missense_A1746T exm1581162 21 47663516 [G/C] NR_002776,NM_003906 MCM3AP-AS1,MCM3AP EXON Silent,Missense_R1720T exm2275177 21 47664892 [T/C] NR_002776,NM_003906 MCM3AP-AS1,MCM3AP EXON Silent,Missense_V1623M exm1581181 21 47665023 [T/C] NR_002776,NM_003906 MCM3AP-AS1,MCM3AP EXON Silent,Missense_G1579E exm1581182 21 47665033 [T/C] NR_002776,NM_003906 MCM3AP-AS1,MCM3AP EXON Silent,Missense_V1576I exm1581187 21 47665086 [A/C] NR_002776,NM_003906 MCM3AP-AS1,MCM3AP EXON Silent,Missense_V1558G exm1581189 21 47666226 [T/C] NR_002776,NM_003906 MCM3AP-AS1,MCM3AP EXON Silent,Missense_T1548A exm1581190 21 47666239 [T/A] NR_002776,NM_003906 MCM3AP-AS1,MCM3AP EXON Silent,Missense_D1543E exm1581201 21 47666659 [A/C] NR_002776,NM_003906 MCM3AP-AS1,MCM3AP EXON Silent,Missense_S1478A exm1581205 21 47666700 [A/G] NR_002776,NM_003906 MCM3AP-AS1,MCM3AP EXON Silent,Missense_M1464T exm1581208 21 47666744 [T/G] NR_002776,NM_003906 MCM3AP-AS1,MCM3AP EXON Silent,Missense_D1449E exm1581210 21 47666788 [T/C] NR_002776,NM_003906 MCM3AP-AS1,MCM3AP EXON Silent,Missense_A1435T exm1581211 21 47671444 [T/G] NR_002776,NM_003906 MCM3AP-AS1,MCM3AP EXON Silent,Missense_K1430T exm1985456 21 47674355 [A/C] NM_003906 MCM3AP EXON Missense_V1363L exm1581221 21 47674378 [T/C] NM_003906 MCM3AP EXON Missense_Q1355R exm1581231 21 47674751 [A/G] NM_003906 MCM3AP EXON Missense_R1314W exm1581260 21 47684061 [A/G] NM_003906 MCM3AP EXON Missense_A1102V exm1581266 21 47685242 [T/G] NM_003906 MCM3AP EXON Missense_S1076Y exm2235174 21 47685285 [T/C] NM_003906 MCM3AP EXON Missense_V1062M exm1581271 21 47685317 [A/G] NM_003906 MCM3AP EXON Missense_P1051L exm1581285 21 47685961 [A/G] NM_003906 MCM3AP EXON Missense_P970L exm1581286 21 47685968 [T/C] NM_003906 MCM3AP EXON Missense_G968R exm1581291 21 47686037 [A/C] NM_003906 MCM3AP EXON Missense_L945V exm1985491 21 47686968 [T/C] NM_003906 MCM3AP EXON Missense_R906H exm1581323 21 47695129 [T/C] NM_003906 MCM3AP EXON Missense_V657M exm2268396 21 47695220 [A/G] NM_003906 MCM3AP EXON Synonymous_D626D exm1581337 21 47697606 [T/G] NM_003906 MCM3AP EXON Missense_L565I exm1581339 21 47697631 [A/G] NM_003906 MCM3AP EXON Synonymous_S556S exm1581345 21 47699982 [T/C] NM_003906 MCM3AP EXON Missense_E531G exm1581354 21 47703705 [T/C] NM_003906 MCM3AP EXON Missense_T423A exm1581359 21 47703734 [A/G] NM_003906 MCM3AP EXON Missense_P413L exm1581360 21 47703746 [A/G] NM_003906 MCM3AP EXON Missense_L409P exm1581365 21 47704015 [T/C] NM_003906 MCM3AP EXON Missense_E396K exm1581367 21 47704053 [A/G] NM_003906 MCM3AP EXON Missense_S383F exm1581377 21 47704254 [A/G] NM_003906 MCM3AP EXON Missense_S316F exm1581380 21 47704339 [T/C] NM_003906 MCM3AP EXON Missense_M288V exm1581384 21 47704399 [G/C] NM_003906 MCM3AP EXON Missense_A268P exm1581386 21 47704461 [T/C] NM_003906 MCM3AP EXON Missense_N247S exm1581396 21 47704624 [A/G] NM_003906 MCM3AP EXON Missense_S193P exm1581409 21 47704858 [A/G] NM_003906 MCM3AP EXON Missense_P115S exm1581420 21 47705119 [T/G] NM_003906 MCM3AP EXON Missense_K28Q exm1581424 21 47705191 [T/G] NM_003906 MCM3AP EXON Missense_T4P exm1581431 21 47706997 [A/G] NM_058181,NM_001006114 YBEY,YBEY EXON Missense_R57K,Missense_R57K exm1581439 21 47711344 [A/G] NM_058181,NM_001006114 YBEY,YBEY EXON Missense_K103E,Missense_K103E exm1985527 21 47711368 [A/G] NM_058181,NM_001006114 YBEY,YBEY EXON Missense_V111I,Missense_V111I exm1581441 21 47711383 [A/G] NM_058181,NM_001006114 YBEY,YBEY EXON Silent,Missense_G116R exm1985534 21 47717471 [A/G] NM_058181 YBEY EXON Missense_A143T exm1581449 21 47717486 [G/C] NM_058181 YBEY EXON Missense_L148V exm1581450 21 47717493 [T/G] NM_058181 YBEY EXON Missense_R150L exm1581454 21 47717537 [A/G] NM_058181 YBEY EXON Missense_G165R exm1581469 21 47722489 [A/G] NM_058180 C21orf58 EXON Synonymous_D241D exm1581472 21 47731391 [A/G] NM_058180 C21orf58 EXON Missense_R234W exm1581481 21 47734659 [A/G] NM_058180 C21orf58 EXON Missense_P194S exm1581496 21 47735390 [A/G] NM_058180 C21orf58 EXON Missense_R148W exm1581499 21 47735449 [T/C] NM_058180 C21orf58 EXON Missense_R128Q exm1581511 21 47738005 [A/G] NM_058180 C21orf58 EXON Missense_S77L exm1581515 21 47738035 [T/C] NM_058180 C21orf58 EXON Missense_G67D exm1581522 21 47738093 [A/C] NM_058180 C21orf58 EXON Missense_G48C exm1581525 21 47738111 [A/G] NM_058180 C21orf58 EXON Missense_R42C exm1581527 21 47738114 [A/C] NM_058180 C21orf58 EXON Missense_A41S exm1581533 21 47742595 [C/G] NM_058180 C21orf58 EXON Missense_Q20E exm1581539 21 47742642 [G/C] NM_058180 C21orf58 EXON Missense_S4C exm1581550 21 47746375 [G/C] NM_006031 PCNT EXON Missense_D47H exm1581593 21 47754665 [T/C] NM_006031 PCNT EXON Missense_R208C exm1581594 21 47754666 [A/G] NM_006031 PCNT EXON Missense_R208H exm1581598 21 47766046 [A/G] NM_006031 PCNT EXON Missense_C215Y exm1581602 21 47766113 [T/G] NM_006031 PCNT EXON Missense_H237Q exm1581608 21 47766660 [A/G] NM_006031 PCNT EXON Missense_V242M exm1581609 21 47766712 [T/C] NM_006031 PCNT EXON Missense_T259M exm1581611 21 47766840 [A/G] NM_006031 PCNT EXON Missense_E302K exm1581616 21 47766883 [A/T] NM_006031 PCNT EXON Missense_E316V exm1581618 21 47766895 [A/G] NM_006031 PCNT EXON Missense_R320K exm1985569 21 47767371 [T/C] NM_006031 PCNT EXON Missense_A326V exm1985572 21 47768933 [A/G] NM_006031 PCNT EXON Missense_K347R exm1581624 21 47769074 [T/C] NM_006031 PCNT EXON Missense_I394T exm1985577 21 47771436 [A/G] NM_006031 PCNT EXON Missense_S480G exm1985581 21 47773029 [T/C] NM_006031 PCNT EXON Nonsense_Q490X exm1581635 21 47773080 [G/C] NM_006031 PCNT EXON Missense_R507G exm1581640 21 47773177 [T/C] NM_006031 PCNT EXON Missense_T539I exm1581645 21 47773937 [A/T] NM_006031 PCNT EXON Missense_K572N exm2235182 21 47773950 [T/C] NM_006031 PCNT EXON Missense_H577Y exm1581649 21 47775389 [T/C] NM_006031 PCNT EXON Missense_A595V exm1581650 21 47775425 [T/C] NM_006031 PCNT EXON Missense_A607V exm1581655 21 47775491 [A/C] NM_006031 PCNT EXON Nonsense_S629X exm1581666 21 47776985 [A/G] NM_006031 PCNT EXON Missense_K678R exm1581670 21 47777008 [A/G] NM_006031 PCNT EXON Missense_T686A exm1581673 21 47777063 [A/G] NM_006031 PCNT EXON Missense_G704E exm1581676 21 47777106 [A/G] NM_006031 PCNT EXON Synonymous_K718K exm1581680 21 47783487 [A/C] NM_006031 PCNT EXON Missense_E749D exm2275178 21 47783504 [T/G] NM_006031 PCNT EXON Missense_M755R exm1581702 21 47783806 [A/G] NM_006031 PCNT EXON Missense_V856M exm1581703 21 47783815 [A/G] NM_006031 PCNT EXON Missense_D859N exm1581708 21 47786524 [A/G] NM_006031 PCNT EXON Missense_T879A exm1581722 21 47786722 [T/C] NM_006031 PCNT EXON Missense_R945C exm1581726 21 47786755 [A/G] NM_006031 PCNT EXON Missense_D956N exm1581733 21 47786950 [T/C] NM_006031 PCNT EXON Missense_R1021W exm1581735 21 47787002 [T/C] NM_006031 PCNT EXON Missense_V1038A exm1581750 21 47805838 [A/G] NM_006031 PCNT EXON Missense_R1135Q exm1581753 21 47805891 [A/G] NM_006031 PCNT EXON Missense_S1153G exm1581756 21 47808673 [A/G] NM_006031 PCNT EXON Missense_A1161T exm1581757 21 47808679 [T/C] NM_006031 PCNT EXON Missense_R1163C exm1581764 21 47808772 [A/G] NM_006031 PCNT EXON Missense_A1194T exm1581777 21 47809254 [T/C] NM_006031 PCNT EXON Missense_R1250W exm1581782 21 47810597 [T/C] NM_006031 PCNT EXON Missense_R1285C exm1581793 21 47811153 [T/C] NM_006031 PCNT EXON Missense_R1360C exm1581795 21 47811184 [A/G] NM_006031 PCNT EXON Missense_R1370Q exm1581798 21 47811217 [T/C] NM_006031 PCNT EXON Missense_A1381V exm2235185 21 47811249 [T/C] NM_006031 PCNT EXON Missense_R1392W exm1581803 21 47817184 [T/C] NM_006031 PCNT EXON Missense_R1408W exm1581804 21 47817185 [A/G] NM_006031 PCNT EXON Missense_R1408Q exm1581806 21 47817247 [T/C] NM_006031 PCNT EXON Missense_R1429C exm1581807 21 47817307 [C/G] NM_006031 PCNT EXON Missense_Q1449E exm1581809 21 47817316 [A/G] NM_006031 PCNT EXON Missense_G1452R exm1581818 21 47817958 [A/G] NM_006031 PCNT EXON Missense_E1493K exm1581821 21 47818000 [T/C] NM_006031 PCNT EXON Missense_R1507C exm1581829 21 47818156 [G/C] NM_006031 PCNT EXON Missense_P1524R exm1581839 21 47819594 [A/T] NM_006031 PCNT EXON Missense_M1559L exm1581844 21 47819694 [T/G] NM_006031 PCNT EXON Missense_V1592G exm1581854 21 47821583 [T/C] NM_006031 PCNT EXON Missense_P1637L exm1581855 21 47821588 [A/G] NM_006031 PCNT EXON Missense_I1639V exm1581860 21 47821619 [T/C] NM_006031 PCNT EXON Missense_L1649P exm1581861 21 47821621 [T/C] NM_006031 PCNT EXON Missense_R1650W exm1581865 21 47822309 [T/C] NM_006031 PCNT EXON Missense_I1676T exm1985653 21 47822356 [A/G] NM_006031 PCNT EXON Missense_V1692I exm1581871 21 47822397 [A/G] NM_006031 PCNT EXON Synonymous_K1705K exm1985657 21 47831217 [T/G] NM_006031 PCNT EXON Nonsense_E1744X exm1581875 21 47831240 [C/G] NM_006031 PCNT EXON Missense_H1751Q exm1985658 21 47831307 [A/G] NM_006031 PCNT EXON Missense_E1774K exm1581890 21 47831464 [C/G] NM_006031 PCNT EXON Missense_G1826A exm1581893 21 47831509 [A/G] NM_006031 PCNT EXON Missense_N1841S exm1581897 21 47831541 [A/G] NM_006031 PCNT EXON Missense_M1852V exm1581901 21 47831601 [A/G] NM_006031 PCNT EXON Missense_E1872K exm1581908 21 47831655 [G/C] NM_006031 PCNT EXON Missense_E1890Q exm1581909 21 47831667 [A/G] NM_006031 PCNT EXON Missense_V1894I exm1581928 21 47831866 [A/G] NM_006031 PCNT EXON Missense_R1960Q exm1581934 21 47831941 [T/C] NM_006031 PCNT EXON Missense_S1985F exm1985678 21 47832788 [T/C] NM_006031 PCNT EXON Missense_A2011V exm1581944 21 47832836 [A/G] NM_006031 PCNT EXON Missense_Q2027R exm1581949 21 47832881 [A/G] NM_006031 PCNT EXON Missense_R2042H exm1581952 21 47832901 [A/G] NM_006031 PCNT EXON Missense_G2049S exm1581960 21 47836027 [T/G] NM_006031 PCNT EXON Missense_D2065E exm1581963 21 47836090 [C/G] NM_006031 PCNT EXON Missense_F2086L exm1581964 21 47836109 [A/G] NM_006031 PCNT EXON Missense_D2093N exm1581965 21 47836122 [T/C] NM_006031 PCNT EXON Missense_L2097P exm1581972 21 47836236 [T/C] NM_006031 PCNT EXON Missense_T2135M exm1581981 21 47836395 [T/G] NM_006031 PCNT EXON Missense_M2188R exm1581982 21 47836403 [T/C] NM_006031 PCNT EXON Missense_S2191P exm1581991 21 47836466 [T/C] NM_006031 PCNT EXON Missense_R2212W exm1581995 21 47836547 [T/C] NM_006031 PCNT EXON Missense_W2239R exm1581999 21 47836571 [T/C] NM_006031 PCNT EXON Missense_H2247Y exm1582000 21 47836575 [T/C] NM_006031 PCNT EXON Missense_S2248L exm1582001 21 47836593 [A/G] NM_006031 PCNT EXON Missense_C2254Y exm1582005 21 47836653 [T/C] NM_006031 PCNT EXON Missense_P2274L exm1582018 21 47838153 [T/G] NM_006031 PCNT EXON Missense_F2319L exm1582019 21 47838173 [A/G] NM_006031 PCNT EXON Missense_S2326N exm1582020 21 47838182 [G/C] NM_006031 PCNT EXON Missense_P2329R exm1582024 21 47841899 [T/C] NM_006031 PCNT EXON Missense_F2347S exm1582025 21 47841917 [C/G] NM_006031 PCNT EXON Missense_P2353R exm1582029 21 47841941 [A/G] NM_006031 PCNT EXON Missense_Q2361R exm1582032 21 47841989 [T/C] NM_006031 PCNT EXON Missense_P2377L exm1582036 21 47842018 [A/G] NM_006031 PCNT EXON Missense_V2387M exm1582044 21 47845824 [T/C] NM_006031 PCNT EXON Missense_P2420L exm1582048 21 47845862 [T/C] NM_006031 PCNT EXON Missense_S2433P exm1582049 21 47845865 [A/C] NM_006031 PCNT EXON Missense_L2434I exm1582050 21 47845874 [G/C] NM_006031 PCNT EXON Missense_G2437R exm1582055 21 47847560 [A/T] NM_006031 PCNT EXON Missense_W2449R exm1582058 21 47847619 [C/G] NM_006031 PCNT EXON Missense_Q2468H exm2235189 21 47848445 [T/C] NM_006031 PCNT EXON Missense_T2544M exm1582080 21 47848448 [T/C] NM_006031 PCNT EXON Missense_A2545V exm1582081 21 47848459 [A/G] NM_006031 PCNT EXON Missense_A2549T exm1582082 21 47848466 [T/C] NM_006031 PCNT EXON Missense_A2551V exm1582085 21 47848503 [T/G] NM_006031 PCNT EXON Missense_Q2563H exm1582103 21 47850107 [A/G] NM_006031 PCNT EXON Missense_R2625Q exm1582111 21 47850484 [C/G] NM_006031 PCNT EXON Missense_Q2659H exm1582123 21 47851636 [A/G] NM_006031 PCNT EXON Missense_R2753H exm1582124 21 47851638 [A/G] NM_006031 PCNT EXON Missense_T2754A exm1582132 21 47851753 [A/G] NM_006031 PCNT EXON Missense_Q2792R exm2276745 21 47851776 [C/G] NM_006031 PCNT EXON Missense_R2800G exm1582133 21 47851777 [A/G] NM_006031 PCNT EXON Missense_R2800Q exm1582134 21 47851779 [G/C] NM_006031 PCNT EXON Missense_V2801L exm1582136 21 47851809 [T/G] NM_006031 PCNT EXON Missense_V2811L exm1582141 21 47851941 [T/C] NM_006031 PCNT EXON Nonsense_R2855X exm1582142 21 47851951 [A/G] NM_006031 PCNT EXON Missense_R2858K exm1582145 21 47852024 [G/C] NM_006031 PCNT EXON Missense_L2882F exm1582146 21 47852049 [A/G] NM_006031 PCNT EXON Missense_A2891T exm1582149 21 47852080 [T/C] NM_006031 PCNT EXON Missense_P2901L exm1582151 21 47852085 [A/G] NM_006031 PCNT EXON Missense_A2903T exm1582155 21 47855818 [A/G] NM_006031 PCNT EXON Missense_R2918Q exm1582167 21 47855989 [T/C] NM_006031 PCNT EXON Missense_L2975P exm1582168 21 47855995 [T/C] NM_006031 PCNT EXON Missense_A2977V exm1582171 21 47856021 [A/G] NM_006031 PCNT EXON Missense_A2986T exm1582176 21 47856909 [T/C] NM_006031 PCNT EXON Missense_T3005M exm1582186 21 47858224 [T/C] NM_006031 PCNT EXON Missense_H3083Y exm1582189 21 47858248 [A/G] NM_006031 PCNT EXON Missense_S3091G exm1582194 21 47860054 [A/G] NM_006031 PCNT EXON Missense_R3111H exm1582208 21 47860964 [A/G] NM_006031 PCNT EXON Missense_R3197H exm1582214 21 47862435 [G/C] NM_006031 PCNT EXON Missense_Q3217E exm1582215 21 47862447 [T/C] NM_006031 PCNT EXON Missense_R3221W exm1582223 21 47863729 [A/G] NM_006031 PCNT EXON Missense_R3236Q exm1582227 21 47863757 [A/C] NM_006031 PCNT EXON Missense_R3245S exm1582228 21 47863773 [G/C] NM_006031 PCNT EXON Missense_P3251A exm1582231 21 47863822 [A/G] NM_006031 PCNT EXON Missense_R3267H exm2275179 21 47863848 [T/C] NM_006031 PCNT EXON Missense_H3276Y exm1582233 21 47863853 [T/G] NM_006031 PCNT EXON Missense_S3277R exm1582238 21 47864633 [T/C] NM_006031 PCNT EXON Missense_L3289S exm1582254 21 47910542 [A/G] NM_001146116,NM_206890,NM_206891,NM_001146114,NM_001146115,NM_206889,NM_015151 DIP2A,DIP2A,DIP2A,DIP2A,DIP2A,DIP2A,DIP2A EXON Missense_R65G,Missense_R65G,Missense_R65G,Silent,Missense_R65G,Missense_R65G,Missense_R65G exm1582266 21 47918545 [T/C] NM_001146116,NM_206890,NM_206891,NM_001146114,NM_001146115,NM_206889,NM_015151 DIP2A,DIP2A,DIP2A,DIP2A,DIP2A,DIP2A,DIP2A EXON Missense_L152F,Missense_L152F,Missense_L152F,Missense_L88F,Missense_L152F,Missense_L152F,Missense_L152F exm1582270 21 47918578 [A/G] NM_001146116,NM_206890,NM_206891,NM_001146114,NM_001146115,NM_206889,NM_015151 DIP2A,DIP2A,DIP2A,DIP2A,DIP2A,DIP2A,DIP2A EXON Missense_V163I,Missense_V163I,Missense_V163I,Missense_V99I,Missense_V163I,Missense_V163I,Missense_V163I exm1582275 21 47918621 [T/C] NM_001146116,NM_206890,NM_206891,NM_001146114,NM_001146115,NM_206889,NM_015151 DIP2A,DIP2A,DIP2A,DIP2A,DIP2A,DIP2A,DIP2A EXON Missense_S177L,Missense_S177L,Missense_S177L,Missense_S113L,Missense_S177L,Missense_S177L,Missense_S177L exm1582278 21 47918662 [C/G] NM_001146116,NM_206890,NM_206891,NM_001146114,NM_001146115,NM_206889,NM_015151 DIP2A,DIP2A,DIP2A,DIP2A,DIP2A,DIP2A,DIP2A EXON Missense_P191A,Missense_P191A,Missense_P191A,Missense_P127A,Missense_P191A,Missense_P191A,Missense_P191A exm1582285 21 47924334 [A/G] NM_001146116,NM_206890,NM_206891,NM_001146114,NM_001146115,NM_206889,NM_015151 DIP2A,DIP2A,DIP2A,DIP2A,DIP2A,DIP2A,DIP2A EXON Missense_R239H,Missense_R239H,Missense_R239H,Missense_R175H,Silent,Missense_R239H,Missense_R239H exm1582289 21 47929238 [T/C] NM_001146116,NM_206890,NM_206891,NM_001146114,NM_001146115,NM_206889,NM_015151 DIP2A,DIP2A,DIP2A,DIP2A,DIP2A,DIP2A,DIP2A EXON Missense_R285C,Missense_R285C,Missense_R285C,Missense_R221C,Missense_R242C,Missense_R285C,Missense_R285C exm1582291 21 47931401 [A/C] NM_001146116,NM_206890,NM_206891,NM_001146114,NM_001146115,NM_206889,NM_015151 DIP2A,DIP2A,DIP2A,DIP2A,DIP2A,DIP2A,DIP2A EXON Missense_T322P,Missense_T326P,Missense_T326P,Missense_T262P,Missense_T283P,Missense_T326P,Missense_T326P exm1582294 21 47931423 [T/C] NM_001146116,NM_206890,NM_206891,NM_001146114,NM_001146115,NM_206889,NM_015151 DIP2A,DIP2A,DIP2A,DIP2A,DIP2A,DIP2A,DIP2A EXON Missense_P329L,Missense_P333L,Missense_P333L,Missense_P269L,Missense_P290L,Missense_P333L,Missense_P333L exm1582296 21 47931446 [T/C] NM_001146116,NM_206890,NM_206891,NM_001146114,NM_001146115,NM_206889,NM_015151 DIP2A,DIP2A,DIP2A,DIP2A,DIP2A,DIP2A,DIP2A EXON Missense_R337C,Missense_R341C,Missense_R341C,Missense_R277C,Missense_R298C,Missense_R341C,Missense_R341C exm1582302 21 47949017 [A/G] NM_001146116,NM_206890,NM_206891,NM_001146114,NM_001146115,NM_206889,NM_015151 DIP2A,DIP2A,DIP2A,DIP2A,DIP2A,DIP2A,DIP2A EXON Missense_S368N,Missense_S372N,Missense_S372N,Missense_S308N,Missense_S329N,Missense_S372N,Missense_S372N exm1582305 21 47952128 [T/C] NM_001146116,NM_206890,NM_206891,NM_001146114,NM_001146115,NM_206889,NM_015151 DIP2A,DIP2A,DIP2A,DIP2A,DIP2A,DIP2A,DIP2A EXON Missense_I424T,Missense_I428T,Missense_I428T,Missense_I364T,Missense_I385T,Missense_I428T,Missense_I428T exm1582314 21 47954567 [T/C] NM_001146116,NM_206890,NM_206891,NM_001146114,NM_001146115,NM_206889,NM_015151 DIP2A,DIP2A,DIP2A,DIP2A,DIP2A,DIP2A,DIP2A EXON Missense_R533W,Missense_R537W,Missense_R537W,Missense_R473W,Missense_R494W,Missense_R537W,Missense_R537W exm1582322 21 47958399 [A/G] NM_001146116,NM_206890,NM_206891,NM_001146114,NM_001146115,NM_206889,NM_015151 DIP2A,DIP2A,DIP2A,DIP2A,DIP2A,DIP2A,DIP2A EXON Missense_R598Q,Missense_R602Q,Missense_R602Q,Missense_R538Q,Missense_R559Q,Missense_R602Q,Missense_R602Q exm1582344 21 47965143 [G/C] NM_001146116,NM_206890,NM_206891,NM_001146114,NM_001146115,NM_206889,NM_015151 DIP2A,DIP2A,DIP2A,DIP2A,DIP2A,DIP2A,DIP2A EXON Missense_T753R,Missense_T757R,Missense_T757R,Missense_T693R,Missense_T714R,Missense_T757R,Missense_T757R exm1582353 21 47965909 [A/G] NM_001146116,NM_206890,NM_206891,NM_001146114,NM_001146115,NM_206889,NM_015151 DIP2A,DIP2A,DIP2A,DIP2A,DIP2A,DIP2A,DIP2A EXON Silent,Silent,Missense_Q810R,Silent,Silent,Silent,Silent exm1582354 21 47965917 [T/C] NM_001146116,NM_206890,NM_206891,NM_001146114,NM_001146115,NM_206889,NM_015151 DIP2A,DIP2A,DIP2A,DIP2A,DIP2A,DIP2A,DIP2A EXON Silent,Silent,Missense_X813Q,Silent,Silent,Silent,Silent exm1582355 21 47966843 [A/G] NM_001146116,NM_206890,NM_001146114,NM_001146115,NM_206889,NM_015151 DIP2A,DIP2A,DIP2A,DIP2A,DIP2A,DIP2A EXON Missense_I800V,Missense_I804V,Missense_I740V,Missense_I761V,Missense_I804V,Missense_I804V exm1582358 21 47966871 [T/C] NM_001146116,NM_206890,NM_001146114,NM_001146115,NM_206889,NM_015151 DIP2A,DIP2A,DIP2A,DIP2A,DIP2A,DIP2A EXON Missense_V809A,Missense_V813A,Missense_V749A,Missense_V770A,Missense_V813A,Missense_V813A exm1582369 21 47969787 [T/C] NM_001146116,NM_001146114,NM_206889,NM_015151 DIP2A,DIP2A,DIP2A,DIP2A EXON Missense_R872C,Missense_R812C,Missense_R876C,Missense_R876C exm1582371 21 47969809 [T/C] NM_001146116,NM_001146114,NM_206889,NM_015151 DIP2A,DIP2A,DIP2A,DIP2A EXON Silent,Silent,Missense_P883L,Silent exm1582375 21 47969827 [A/G] NM_001146116,NM_001146114,NM_206889,NM_015151 DIP2A,DIP2A,DIP2A,DIP2A EXON Silent,Silent,Missense_R889Q,Silent exm1582379 21 47970540 [A/G] NM_001146116,NM_001146114,NM_015151 DIP2A,DIP2A,DIP2A EXON Missense_I904V,Missense_I844V,Missense_I908V exm1582387 21 47970580 [T/C] NM_001146116,NM_001146114,NM_015151 DIP2A,DIP2A,DIP2A EXON Missense_T917M,Missense_T857M,Missense_T921M exm1582390 21 47970643 [A/G] NM_001146116,NM_001146114,NM_015151 DIP2A,DIP2A,DIP2A EXON Missense_R938H,Missense_R878H,Missense_R942H exm1985821 21 47971556 [T/C] NM_001146116,NM_001146114,NM_015151 DIP2A,DIP2A,DIP2A EXON Missense_P946L,Missense_P886L,Missense_P950L exm1582392 21 47971564 [A/G] NM_001146116,NM_001146114,NM_015151 DIP2A,DIP2A,DIP2A EXON Missense_M949V,Missense_M889V,Missense_M953V exm1582396 21 47971624 [A/G] NM_001146116,NM_001146114,NM_015151 DIP2A,DIP2A,DIP2A EXON Missense_A969T,Missense_A909T,Missense_A973T exm1582398 21 47971652 [A/G] NM_001146116,NM_001146114,NM_015151 DIP2A,DIP2A,DIP2A EXON Missense_R978Q,Missense_R918Q,Missense_R982Q exm1582403 21 47974182 [A/G] NM_001146116,NM_001146114,NM_015151 DIP2A,DIP2A,DIP2A EXON Missense_H1040R,Missense_H980R,Missense_H1044R exm1582404 21 47974202 [T/C] NM_001146116,NM_001146114,NM_015151 DIP2A,DIP2A,DIP2A EXON Missense_P1047S,Missense_P987S,Missense_P1051S exm1582423 21 47976322 [T/C] NM_001146116,NM_001146114,NM_015151 DIP2A,DIP2A,DIP2A EXON Silent,Missense_R1105C,Silent exm1582439 21 47977575 [T/C] NM_001146116,NM_015151 DIP2A,DIP2A EXON Missense_V1232A,Missense_V1236A exm2268377 21 47982363 [A/G] NM_001146116,NM_015151 DIP2A,DIP2A Silent,Silent exm1582466 21 47986496 [A/G] NM_001146116,NM_015151 DIP2A,DIP2A EXON Missense_V1451I,Missense_V1455I exm1582487 21 48063447 [A/G] NM_001242864,NM_001242866,NM_001535,NM_206962,NM_001242865 PRMT2,PRMT2,PRMT2,PRMT2,PRMT2 EXON Missense_G14R,Missense_G14R,Missense_G14R,Missense_G14R,Missense_G14R exm1582489 21 48063469 [T/G] NM_001242864,NM_001242866,NM_001535,NM_206962,NM_001242865 PRMT2,PRMT2,PRMT2,PRMT2,PRMT2 EXON Missense_S21I,Missense_S21I,Missense_S21I,Missense_S21I,Missense_S21I exm1582490 21 48063476 [G/C] NM_001242864,NM_001242866,NM_001535,NM_206962,NM_001242865 PRMT2,PRMT2,PRMT2,PRMT2,PRMT2 EXON Synonymous_A23A,Synonymous_A23A,Synonymous_A23A,Synonymous_A23A,Synonymous_A23A exm1582499 21 48064382 [T/C] NM_001242864,NM_001242866,NM_001535,NM_206962,NM_001242865 PRMT2,PRMT2,PRMT2,PRMT2,PRMT2 EXON Synonymous_F103F,Synonymous_F103F,Synonymous_F103F,Synonymous_F103F,Synonymous_F103F exm1582528 21 48078681 [T/C] NM_001242864,NM_001242866,NM_001535,NM_206962 PRMT2,PRMT2,PRMT2,PRMT2 EXON Silent,Synonymous_L227L,Synonymous_L227L,Synonymous_L227L exm1582533 21 48078825 [A/G] NM_001242864,NM_001242866,NM_001535,NM_206962 PRMT2,PRMT2,PRMT2,PRMT2 EXON Silent,Missense_A275T,Missense_A275T,Missense_A275T exm1582547 21 48081808 [A/G] NM_001242864,NM_001535,NM_206962 PRMT2,PRMT2,PRMT2 EXON Missense_G251R,Missense_G353R,Missense_G353R exm1582672 22 17072086 [A/C] NM_014406 CCT8L2 EXON Missense_L452W exm1582727 22 17073119 [T/C] NM_014406 CCT8L2 EXON Missense_V108M exm1997367 22 17073134 [A/C] NM_014406 CCT8L2 EXON Missense_D103Y exm1582734 22 17073185 [T/C] NM_014406 CCT8L2 EXON Missense_A86T exm1582739 22 17073275 [A/G] NM_014406 CCT8L2 EXON Missense_R56W exm1582745 22 17073373 [A/G] NM_014406 CCT8L2 EXON Missense_P23L exm1582750 22 17264565 [T/G] NM_175878 XKR3 EXON Missense_H442N exm1582770 22 17265194 [A/G] NM_175878 XKR3 EXON Missense_P232L exm1582779 22 17280778 [T/C] NM_175878 XKR3 EXON Missense_M158V exm1582780 22 17280822 [A/G] NM_175878 XKR3 EXON Missense_T143M exm1582783 22 17280882 [A/C] NM_175878 XKR3 EXON Missense_W123L exm2273050 22 17285949 [T/C] NM_175878 XKR3 Silent exm2235220 22 17288635 [A/G] NM_175878 XKR3 EXON Missense_I110T exm1582794 22 17288849 [A/G] NM_175878 XKR3 EXON Missense_F39L exm1582796 22 17288900 [C/G] NM_175878 XKR3 EXON Missense_E22Q exm1582826 22 17443678 [T/C] NM_001037814 GAB4 EXON Missense_H557R exm1582834 22 17444640 [A/G] NM_001037814 GAB4 EXON Missense_A519V exm1582836 22 17444667 [A/G] NM_001037814 GAB4 EXON Missense_P510L exm1582839 22 17444715 [A/G] NM_001037814 GAB4 EXON Missense_P494L exm1582843 22 17445711 [A/G] NM_001037814 GAB4 EXON Missense_T474M exm1582848 22 17446157 [T/G] NM_001037814 GAB4 EXON Synonymous_A430A exm1582850 22 17446991 [T/C] NM_001037814 GAB4 EXON Synonymous_K429K exm1582853 22 17447036 [G/C] NM_001037814 GAB4 EXON Missense_E414D exm1997481 22 17447138 [G/C] NM_001037814 GAB4 EXON Missense_Q380H exm1582860 22 17447169 [A/G] NM_001037814 GAB4 EXON Missense_P370L exm1582876 22 17449273 [A/G] NM_001037814 GAB4 EXON Missense_A313V exm1582880 22 17450841 [A/T] NM_001037814 GAB4 EXON Missense_D310V exm1582884 22 17450898 [A/G] NM_001037814 GAB4 EXON Missense_P291L exm1582888 22 17450929 [T/C] NM_001037814 GAB4 EXON Missense_A281T exm1582890 22 17450952 [A/G] NM_001037814 GAB4 EXON Missense_L273P exm1582899 22 17468875 [T/C] NM_001037814 GAB4 EXON Missense_A221T exm1582900 22 17468886 [A/G] NM_001037814 GAB4 EXON Missense_S217L exm1582901 22 17468893 [A/G] NM_001037814 GAB4 EXON Missense_L215F exm1582902 22 17468901 [A/G] NM_001037814 GAB4 EXON Missense_P212L exm1582903 22 17468918 [A/C] NM_001037814 GAB4 EXON Missense_W206C exm1582904 22 17468928 [A/G] NM_001037814 GAB4 EXON Missense_P203L exm1582909 22 17469049 [A/C] NM_001037814 GAB4 EXON Nonsense_G163X exm1582916 22 17472967 [T/G] NM_001037814 GAB4 EXON Missense_R92S exm1582930 22 17488938 [A/G] NM_001037814 GAB4 EXON Missense_S23P exm2268399 22 17493520 [A/G] exm1582941 22 17577965 [T/C] NM_014339 IL17RA EXON Missense_T51M exm2235222 22 17577975 [T/C] NM_014339 IL17RA EXON Synonymous_N54N exm1582950 22 17578770 [A/G] NM_014339 IL17RA EXON Missense_A83T exm1582953 22 17578800 [A/G] NM_014339 IL17RA EXON Missense_V93M exm1582956 22 17578835 [T/C] NM_014339 IL17RA Silent exm1582960 22 17581248 [T/C] NM_014339 IL17RA EXON Missense_R143C exm1582962 22 17581286 [C/G] NM_014339 IL17RA EXON Missense_Q155H exm1582969 22 17582916 [T/C] NM_014339 IL17RA EXON Missense_T194M exm1582972 22 17583083 [A/G] NM_014339 IL17RA EXON Missense_R218H exm1997555 22 17583085 [T/G] NM_014339 IL17RA EXON Missense_V219L exm1582974 22 17583106 [G/C] NM_014339 IL17RA EXON Missense_E226Q exm1582981 22 17584390 [C/G] NM_014339 IL17RA EXON Missense_P257A exm1997559 22 17585658 [T/C] NM_014339 IL17RA EXON Missense_H297Y exm1997562 22 17586491 [A/G] NM_014339 IL17RA EXON Synonymous_P314P exm1582995 22 17586757 [T/C] NM_014339 IL17RA EXON Missense_W320R exm1582998 22 17586805 [A/G] NM_014339 IL17RA EXON Missense_V336I exm1583002 22 17588617 [C/G] NM_014339 IL17RA EXON Missense_G349A exm1583006 22 17588657 [T/C] NM_014339 IL17RA EXON Synonymous_T362T exm1583007 22 17588658 [A/G] NM_014339 IL17RA EXON Missense_D363N exm1583010 22 17589209 [T/C] NM_014339 IL17RA EXON Missense_A367V exm1583015 22 17589283 [T/G] NM_014339 IL17RA EXON Missense_V392L exm1583018 22 17589341 [T/C] NM_014339 IL17RA EXON Missense_A411V exm1583028 22 17589521 [A/G] NM_014339 IL17RA EXON Missense_H471R exm1583034 22 17589602 [T/C] NM_014339 IL17RA EXON Missense_T498I exm1583042 22 17589794 [A/C] NM_014339 IL17RA EXON Missense_P562Q exm1583046 22 17589856 [G/C] NM_014339 IL17RA EXON Missense_D583H exm1583048 22 17589928 [A/G] NM_014339 IL17RA EXON Missense_E607K exm1583054 22 17589971 [A/C] NM_014339 IL17RA EXON Missense_A621E exm1583083 22 17590582 [G/C] NM_014339 IL17RA EXON Missense_A825P exm1583086 22 17590607 [T/C] NM_014339 IL17RA EXON Missense_L833P exm1583093 22 17600313 [T/C] NM_031890,NM_001163079 CECR6,CECR6 EXON Missense_V569I,Missense_V214I exm1583099 22 17600375 [T/G] NM_031890,NM_001163079 CECR6,CECR6 EXON Missense_P548H,Missense_P193H exm1583101 22 17600385 [T/G] NM_031890,NM_001163079 CECR6,CECR6 EXON Missense_P545T,Missense_P190T exm1997579 22 17600393 [A/G] NM_031890,NM_001163079 CECR6,CECR6 EXON Missense_P542L,Missense_P187L exm1583112 22 17600672 [A/G] NM_031890,NM_001163079 CECR6,CECR6 EXON Missense_A449V,Missense_A94V exm1583168 22 17618937 [A/G] NM_017829,NM_033070 CECR5,CECR5 EXON Missense_R386C,Missense_R416C exm1583176 22 17619023 [T/C] NM_017829,NM_033070 CECR5,CECR5 EXON Missense_G357E,Missense_G387E exm1583180 22 17619076 [C/G] NM_017829,NM_033070 CECR5,CECR5 EXON Missense_R339S,Missense_R369S exm1583194 22 17619449 [T/C] NM_017829,NM_033070 CECR5,CECR5 EXON Missense_Y279C,Missense_Y309C exm1583202 22 17622001 [T/C] NM_017829,NM_033070 CECR5,CECR5 EXON Missense_V202I,Missense_V232I exm1583217 22 17625915 [A/G] NM_017829,NM_033070 CECR5,CECR5 EXON Missense_T149M,Missense_T179M exm1583233 22 17630459 [G/C] NM_017829,NM_033070 CECR5,CECR5 EXON Missense_Q71H,Missense_Q101H exm1583247 22 17640045 [A/G] NM_017829,NM_033070 CECR5,CECR5 EXON Silent,Missense_R33C exm-rs5748919 22 17644131 [T/C] NM_017829,NR_024482,NR_024483 CECR5,CECR5-AS1,CECR5-AS1 Silent,Silent,Silent exm1583252 22 17662444 [C/G] NM_177405,NM_017424 CECR1,CECR1 EXON Missense_E248Q,Missense_E489Q exm1583256 22 17662767 [A/G] NM_177405,NM_017424 CECR1,CECR1 EXON Missense_I221T,Missense_I462T exm2235227 22 17662849 [G/C] NM_177405,NM_017424 CECR1,CECR1 EXON Missense_P194A,Missense_P435A exm1583264 22 17662900 [A/C] NM_177405,NM_017424 CECR1,CECR1 EXON Missense_V177L,Missense_V418L exm1997621 22 17669245 [T/G] NM_177405,NM_017424 CECR1,CECR1 EXON Missense_F114L,Missense_F355L exm1583274 22 17669265 [T/C] NM_177405,NM_017424 CECR1,CECR1 EXON Missense_V108I,Missense_V349I exm1583277 22 17669306 [T/C] NM_177405,NM_017424 CECR1,CECR1 EXON Missense_H94R,Missense_H335R exm1583281 22 17669339 [T/C] NM_177405,NM_017424 CECR1,CECR1 Silent,Silent exm1583289 22 17670877 [T/C] NM_177405,NM_017424 CECR1,CECR1 EXON Missense_M68I,Missense_M309I exm1583299 22 17684454 [A/G] NM_017424 CECR1 EXON Missense_P251L exm1583306 22 17684517 [T/C] NM_017424 CECR1 EXON Missense_R230Q exm1583313 22 17687992 [A/G] NM_017424 CECR1 EXON Missense_R171W exm1583314 22 17687997 [T/C] NM_017424 CECR1 EXON Missense_R169Q exm1583321 22 17688129 [A/C] NM_017424 CECR1 EXON Missense_V125G exm1583324 22 17690296 [T/C] NM_017424 CECR1 EXON Missense_H91R exm1583325 22 17690318 [T/C] NM_017424 CECR1 EXON Missense_M84V exm1583327 22 17690374 [A/G] NM_017424 CECR1 EXON Missense_T65M exm1583334 22 17690464 [A/G] NM_017424 CECR1 EXON Missense_A35V exm2273016 22 17901683 [T/C] exm1583349 22 17976462 [A/G] NM_031413 CECR2 EXON Missense_R42K exm1583365 22 17983978 [A/G] NM_031413 CECR2 EXON Missense_E226K exm1583367 22 17990852 [A/G] NM_031413 CECR2 EXON Missense_V252I exm1583369 22 17990861 [A/G] NM_031413 CECR2 EXON Missense_A255T exm1583371 22 17990875 [T/G] NM_031413 CECR2 EXON Missense_S259R exm1583377 22 18003181 [A/G] NM_031413 CECR2 EXON Missense_A290T exm1583383 22 18003313 [A/G] NM_031413 CECR2 EXON Missense_A334T exm1583388 22 18003341 [A/G] NM_031413 CECR2 EXON Missense_R343Q exm1583392 22 18016826 [A/G] NM_031413 CECR2 EXON Missense_G360E exm1583394 22 18016871 [A/C] NM_031413 CECR2 EXON Missense_P375H exm1583404 22 18020330 [A/G] NM_031413 CECR2 EXON Missense_S554N exm1583405 22 18020350 [A/G] NM_031413 CECR2 EXON Missense_E561K exm1583410 22 18021536 [A/G] NM_031413 CECR2 EXON Missense_Q610R exm1583419 22 18021876 [A/C] NM_031413 CECR2 EXON Missense_D660E exm1997679 22 18021958 [T/C] NM_031413 CECR2 EXON Missense_C688R exm1583426 22 18022046 [T/C] NM_031413 CECR2 EXON Missense_M717T exm1583427 22 18022052 [G/C] NM_031413 CECR2 EXON Missense_G719A exm1583428 22 18022060 [T/C] NM_031413 CECR2 EXON Missense_P722S exm1583434 22 18022247 [T/C] NM_031413 CECR2 EXON Missense_S784L exm1583438 22 18022373 [T/C] NM_031413 CECR2 EXON Missense_P826L exm1583441 22 18022445 [T/G] NM_031413 CECR2 EXON Missense_G850V exm1583444 22 18022508 [G/C] NM_031413 CECR2 EXON Missense_P871R exm1583449 22 18022595 [T/C] NM_031413 CECR2 EXON Missense_T900I exm2235230 22 18027954 [A/T] NM_031413 CECR2 EXON Missense_R971S exm1583454 22 18027977 [A/G] NM_031413 CECR2 EXON Missense_Q979R exm1583457 22 18028042 [A/G] NM_031413 CECR2 EXON Missense_R1001G exm1583459 22 18028073 [T/C] NM_031413 CECR2 EXON Missense_P1011L exm1583462 22 18028084 [G/C] NM_031413 CECR2 EXON Missense_P1015A exm1583466 22 18028127 [T/C] NM_031413 CECR2 EXON Missense_A1029V exm1583467 22 18028142 [T/C] NM_031413 CECR2 EXON Missense_T1034M exm1583469 22 18028166 [T/C] NM_031413 CECR2 EXON Missense_L1042P exm1583477 22 18028331 [A/G] NM_031413 CECR2 EXON Missense_R1097H exm1583478 22 18028394 [A/G] NM_031413 CECR2 EXON Missense_C1118Y exm1583483 22 18028507 [A/G] NM_031413 CECR2 EXON Missense_A1156T exm1583496 22 18028679 [T/G] NM_031413 CECR2 EXON Missense_G1213V exm1583497 22 18028707 [A/G] NM_031413 CECR2 EXON Nonsense_W1222X exm2254965 22 18028758 [T/C] NM_031413 CECR2 EXON Synonymous_P1239P exm1583504 22 18028946 [A/G] NM_031413 CECR2 EXON Missense_R1302H exm2254966 22 18029136 [A/G] NM_031413 CECR2 EXON Synonymous_R1365R exm1583517 22 18029251 [T/C] NM_031413 CECR2 EXON Nonsense_Q1404X exm1997697 22 18031731 [A/G] NM_031413 CECR2 EXON Missense_R1410Q exm2277213 22 18031749 [A/G] NM_031413 CECR2 EXON Missense_R1416H exm1583520 22 18031793 [T/C] NM_031413 CECR2 EXON Missense_R1431C exm1583523 22 18031817 [A/C] NM_031413 CECR2 EXON Missense_P1439T exm1997710 22 18065385 [A/C] NM_031481 SLC25A18 EXON Missense_N86H exm1583545 22 18065401 [A/G] NM_031481 SLC25A18 EXON Missense_R91Q exm1583549 22 18066213 [C/G] NM_031481 SLC25A18 EXON Missense_A108P exm1583554 22 18069904 [A/G] NM_031481 SLC25A18 EXON Missense_V138I exm1583561 22 18070022 [A/G] NM_031481 SLC25A18 EXON Missense_Q177R exm1583567 22 18070761 [A/G] NM_031481 SLC25A18 EXON Missense_A216T exm1583570 22 18070800 [T/C] NM_031481 SLC25A18 EXON Missense_C229R exm1583605 22 18082816 [T/G] NM_001696,NM_001039366,NM_001039367 ATP6V1E1,ATP6V1E1,ATP6V1E1 EXON Missense_K138Q,Missense_K116Q,Missense_K108Q exm1583609 22 18082846 [C/G] NM_001696,NM_001039366,NM_001039367 ATP6V1E1,ATP6V1E1,ATP6V1E1 EXON Missense_L128V,Missense_L106V,Missense_L98V exm1997741 22 18095609 [T/C] NM_001696,NM_001039366,NM_001039367 ATP6V1E1,ATP6V1E1,ATP6V1E1 EXON Missense_K82R,Missense_K60R,Missense_K82R exm1583639 22 18166021 [A/G] NM_015367,NM_001270727,NM_001270726,NM_001270731,NM_001270730,NM_001270732,NM_001270734,NM_001270729,NM_001270728,NM_001270735,NR_073068,NR_073069 BCL2L13,BCL2L13,BCL2L13,BCL2L13,BCL2L13,BCL2L13,BCL2L13,BCL2L13,BCL2L13,BCL2L13,BCL2L13,BCL2L13 EXON Missense_I55V,Missense_I79V,Missense_I79V,Silent,Silent,Missense_I55V,Missense_I55V,Silent,Silent,Missense_I55V,Silent,Silent exm1583645 22 18171776 [A/G] NM_015367,NM_001270727,NM_001270726,NM_001270731,NM_001270730,NM_001270732,NM_001270734,NM_001270729,NM_001270728,NM_001270735,NR_073068,NR_073069 BCL2L13,BCL2L13,BCL2L13,BCL2L13,BCL2L13,BCL2L13,BCL2L13,BCL2L13,BCL2L13,BCL2L13,BCL2L13,BCL2L13 EXON Missense_R85H,Missense_R109H,Missense_R109H,Silent,Silent,Silent,Missense_R85H,Silent,Silent,Silent,Silent,Silent exm1583646 22 18171779 [A/G] NM_015367,NM_001270727,NM_001270726,NM_001270731,NM_001270730,NM_001270732,NM_001270734,NM_001270729,NM_001270728,NM_001270735,NR_073068,NR_073069 BCL2L13,BCL2L13,BCL2L13,BCL2L13,BCL2L13,BCL2L13,BCL2L13,BCL2L13,BCL2L13,BCL2L13,BCL2L13,BCL2L13 EXON Missense_H86R,Missense_H110R,Missense_H110R,Silent,Silent,Silent,Missense_H86R,Silent,Silent,Silent,Silent,Silent exm1583648 22 18171842 [T/G] NM_015367,NM_001270727,NM_001270726,NM_001270731,NM_001270730,NM_001270732,NM_001270734,NM_001270729,NM_001270728,NM_001270735,NR_073068,NR_073069 BCL2L13,BCL2L13,BCL2L13,BCL2L13,BCL2L13,BCL2L13,BCL2L13,BCL2L13,BCL2L13,BCL2L13,BCL2L13,BCL2L13 EXON Missense_L107R,Missense_L131R,Missense_L131R,Silent,Silent,Silent,Missense_L107R,Silent,Silent,Silent,Silent,Silent exm1583657 22 18185123 [T/G] NM_015367,NM_001270727,NM_001270726,NM_001270731,NM_001270730,NM_001270732,NM_001270734,NM_001270729,NM_001270728,NM_001270735,NR_073068,NR_073069 BCL2L13,BCL2L13,BCL2L13,BCL2L13,BCL2L13,BCL2L13,BCL2L13,BCL2L13,BCL2L13,BCL2L13,BCL2L13,BCL2L13 EXON Missense_A191S,Silent,Missense_A215S,Missense_A29S,Missense_A29S,Missense_G115V,Silent,Missense_A29S,Missense_G79V,Silent,Silent,Silent exm1583664 22 18209599 [T/C] NM_015367,NM_001270727,NM_001270726,NM_001270731,NM_001270730,NM_001270732,NM_001270734,NM_001270729,NM_001270728,NM_001270735,NR_073068,NR_073069,NM_001270733 BCL2L13,BCL2L13,BCL2L13,BCL2L13,BCL2L13,BCL2L13,BCL2L13,BCL2L13,BCL2L13,BCL2L13,BCL2L13,BCL2L13,BCL2L13 EXON Missense_P253S,Missense_P229S,Missense_P277S,Missense_P91S,Missense_P91S,Silent,Silent,Missense_P91S,Silent,Silent,Silent,Silent,Silent exm1583667 22 18209651 [T/C] NM_015367,NM_001270727,NM_001270726,NM_001270731,NM_001270730,NM_001270732,NM_001270734,NM_001270729,NM_001270728,NM_001270735,NR_073068,NR_073069,NM_001270733 BCL2L13,BCL2L13,BCL2L13,BCL2L13,BCL2L13,BCL2L13,BCL2L13,BCL2L13,BCL2L13,BCL2L13,BCL2L13,BCL2L13,BCL2L13 EXON Missense_S270L,Missense_S246L,Missense_S294L,Missense_S108L,Missense_S108L,Silent,Silent,Missense_S108L,Silent,Silent,Silent,Silent,Silent exm1583681 22 18209920 [T/C] NM_015367,NM_001270727,NM_001270726,NM_001270731,NM_001270730,NM_001270732,NM_001270734,NM_001270729,NM_001270728,NM_001270735,NR_073068,NR_073069,NM_001270733 BCL2L13,BCL2L13,BCL2L13,BCL2L13,BCL2L13,BCL2L13,BCL2L13,BCL2L13,BCL2L13,BCL2L13,BCL2L13,BCL2L13,BCL2L13 EXON Missense_P360S,Missense_P336S,Missense_P384S,Missense_P198S,Missense_P198S,Silent,Silent,Missense_P198S,Silent,Silent,Silent,Silent,Missense_P80S exm1583683 22 18209989 [A/G] NM_015367,NM_001270727,NM_001270726,NM_001270731,NM_001270730,NM_001270732,NM_001270734,NM_001270729,NM_001270728,NM_001270735,NR_073068,NR_073069,NM_001270733 BCL2L13,BCL2L13,BCL2L13,BCL2L13,BCL2L13,BCL2L13,BCL2L13,BCL2L13,BCL2L13,BCL2L13,BCL2L13,BCL2L13,BCL2L13 EXON Missense_E383K,Missense_E359K,Missense_E407K,Missense_E221K,Missense_E221K,Silent,Silent,Missense_E221K,Silent,Silent,Silent,Silent,Missense_E103K exm1583686 22 18210043 [A/G] NM_015367,NM_001270727,NM_001270726,NM_001270731,NM_001270730,NM_001270732,NM_001270734,NM_001270729,NM_001270728,NM_001270735,NR_073068,NR_073069,NM_001270733 BCL2L13,BCL2L13,BCL2L13,BCL2L13,BCL2L13,BCL2L13,BCL2L13,BCL2L13,BCL2L13,BCL2L13,BCL2L13,BCL2L13,BCL2L13 EXON Missense_A401T,Missense_A377T,Missense_A425T,Missense_A239T,Missense_A239T,Silent,Silent,Missense_A239T,Silent,Silent,Silent,Silent,Missense_A121T exm1583688 22 18210130 [A/G] NM_015367,NM_001270727,NM_001270726,NM_001270731,NM_001270730,NM_001270732,NM_001270734,NM_001270729,NM_001270728,NM_001270735,NR_073068,NR_073069,NM_001270733 BCL2L13,BCL2L13,BCL2L13,BCL2L13,BCL2L13,BCL2L13,BCL2L13,BCL2L13,BCL2L13,BCL2L13,BCL2L13,BCL2L13,BCL2L13 EXON Missense_E430K,Missense_E406K,Missense_E454K,Missense_E268K,Missense_E268K,Silent,Silent,Missense_E268K,Silent,Silent,Silent,Silent,Missense_E150K exm1583698 22 18210200 [T/C] NM_015367,NM_001270727,NM_001270726,NM_001270731,NM_001270730,NM_001270732,NM_001270734,NM_001270729,NM_001270728,NM_001270735,NR_073068,NR_073069,NM_001270733 BCL2L13,BCL2L13,BCL2L13,BCL2L13,BCL2L13,BCL2L13,BCL2L13,BCL2L13,BCL2L13,BCL2L13,BCL2L13,BCL2L13,BCL2L13 EXON Missense_P453L,Missense_P429L,Missense_P477L,Missense_P291L,Missense_P291L,Silent,Silent,Missense_P291L,Silent,Silent,Silent,Silent,Missense_P173L exm1583700 22 18210242 [T/C] NM_015367,NM_001270727,NM_001270726,NM_001270731,NM_001270730,NM_001270732,NM_001270734,NM_001270729,NM_001270728,NM_001270735,NR_073068,NR_073069,NM_001270733 BCL2L13,BCL2L13,BCL2L13,BCL2L13,BCL2L13,BCL2L13,BCL2L13,BCL2L13,BCL2L13,BCL2L13,BCL2L13,BCL2L13,BCL2L13 EXON Missense_A467V,Missense_A443V,Missense_A491V,Missense_A305V,Missense_A305V,Silent,Silent,Missense_A305V,Silent,Silent,Silent,Silent,Missense_A187V exm1583706 22 18218353 [A/G] NM_001244569,NM_001244570,NM_001196,NM_001244567,NM_197967,NM_001244572,NM_197966 BID,BID,BID,BID,BID,BID,BID EXON Missense_M98T,Missense_M98T,Missense_M194T,Missense_M194T,Missense_M98T,Missense_M98T,Missense_M240T exm1997763 22 18220804 [A/G] NM_001244569,NM_001244570,NM_001196,NM_001244567,NM_197967,NM_001244572,NM_197966 BID,BID,BID,BID,BID,BID,BID EXON Synonymous_Y89Y,Synonymous_Y89Y,Synonymous_Y185Y,Synonymous_Y185Y,Synonymous_Y89Y,Synonymous_Y89Y,Synonymous_Y231Y exm1583715 22 18220916 [A/G] NM_001244569,NM_001244570,NM_001196,NM_001244567,NM_197967,NM_001244572,NM_197966 BID,BID,BID,BID,BID,BID,BID EXON Missense_M52T,Missense_M52T,Missense_M148T,Missense_M148T,Missense_M52T,Missense_M52T,Missense_M194T exm1583719 22 18220991 [T/C] NM_001244569,NM_001244570,NM_001196,NM_001244567,NM_197967,NM_001244572,NM_197966 BID,BID,BID,BID,BID,BID,BID EXON Missense_R27Q,Missense_R27Q,Missense_R123Q,Missense_R123Q,Missense_R27Q,Missense_R27Q,Missense_R169Q exm1583724 22 18222118 [A/C] NM_001244569,NM_001244570,NM_001196,NM_001244567,NM_197967,NM_001244572,NM_197966 BID,BID,BID,BID,BID,BID,BID EXON Missense_E24D,Missense_E24D,Missense_E120D,Missense_E120D,Missense_E24D,Missense_E24D,Missense_E166D exm-IND22-16602868 22 18222869 [I/D] NM_001244569,NM_001244570,NM_001196,NM_001244567,NM_197967,NM_001244572,NM_197966 BID,BID,BID,BID,BID,BID,BID exm1583752 22 18226689 [T/C] NM_001244569,NM_001244570,NM_001196,NM_001244567,NM_197967,NM_001244572,NM_197966 BID,BID,BID,BID,BID,BID,BID EXON Silent,Silent,Missense_R35G,Missense_R35G,Silent,Silent,Missense_R81G exm1583753 22 18226764 [T/C] NM_001244569,NM_001244570,NM_001196,NM_001244567,NM_197967,NM_001244572,NM_197966 BID,BID,BID,BID,BID,BID,BID EXON Silent,Silent,Missense_S10G,Missense_S10G,Silent,Silent,Missense_S56G exm1583763 22 18256403 [T/G] NM_001244569,NM_001244570,NM_001196,NM_001244567,NM_197967,NM_001244572,NM_197966 BID,BID,BID,BID,BID,BID,BID EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_A18D exm2268431 22 18263018 [A/G] exm1583766 22 18273560 [G/C] NM_015241 MICAL3 EXON Missense_E1983Q exm2275180 22 18274050 [A/C] NM_015241 MICAL3 EXON Missense_D1890Y exm1583786 22 18293533 [T/C] NM_015241 MICAL3 EXON Missense_R1831H exm1583787 22 18293542 [A/G] NM_015241 MICAL3 EXON Missense_L1828P exm1583789 22 18293572 [A/G] NM_015241 MICAL3 EXON Missense_T1818I exm1583791 22 18299535 [T/C] NM_015241 MICAL3 EXON Missense_R1789H exm1583794 22 18300089 [T/C] NM_015241 MICAL3 EXON Missense_V1780I exm1583795 22 18300098 [T/C] NM_015241 MICAL3 EXON Missense_V1777M exm1583796 22 18300171 [A/C] NM_015241 MICAL3 EXON Missense_K1752N exm2254968 22 18300201 [A/G] NM_015241 MICAL3 EXON Synonymous_S1742S exm1583802 22 18300278 [T/C] NM_015241 MICAL3 EXON Missense_E1717K exm1583805 22 18300311 [A/G] NM_015241 MICAL3 EXON Missense_R1706C exm1583812 22 18300470 [T/G] NM_015241 MICAL3 EXON Missense_P1653T exm1997813 22 18300641 [A/G] NM_015241 MICAL3 EXON Missense_R1596C exm1583828 22 18300740 [T/C] NM_015241 MICAL3 EXON Missense_K1563E exm1583831 22 18300757 [T/C] NM_015241 MICAL3 EXON Missense_R1557H exm1583834 22 18300775 [A/G] NM_015241 MICAL3 EXON Missense_P1551L exm1583838 22 18300844 [T/C] NM_015241 MICAL3 EXON Missense_D1528G exm1583840 22 18300887 [T/C] NM_015241 MICAL3 EXON Missense_V1514M exm1583853 22 18301076 [T/C] NM_015241 MICAL3 EXON Missense_A1451T exm1583854 22 18301117 [A/G] NM_015241 MICAL3 EXON Missense_M1437T exm1583859 22 18301190 [A/G] NM_015241 MICAL3 EXON Missense_R1413C exm1583873 22 18301508 [T/C] NM_015241 MICAL3 EXON Missense_R1307G exm1583883 22 18301685 [T/C] NM_015241 MICAL3 EXON Missense_V1248M exm1583884 22 18301693 [T/C] NM_015241 MICAL3 EXON Missense_Q1245R exm1583903 22 18304804 [T/C] NM_015241 MICAL3 EXON Missense_Q1147R exm1583905 22 18304814 [G/C] NM_015241 MICAL3 EXON Missense_P1144A exm1583908 22 18304843 [A/G] NM_015241 MICAL3 EXON Missense_S1134L exm1583917 22 18305797 [T/C] NM_015241 MICAL3 EXON Missense_D1075N exm1583918 22 18310439 [A/G] NM_015241 MICAL3 EXON Missense_A1055V exm1583926 22 18314815 [A/G] NM_015241 MICAL3 EXON Missense_P954S exm2273017 22 18337880 [T/C] NM_015241,NM_001122731 MICAL3,MICAL3 Silent,Silent exm1583955 22 18347560 [T/C] NM_015241,NM_001122731,NM_001136004 MICAL3,MICAL3,MICAL3 EXON Silent,Silent,Missense_G1028R exm1583957 22 18347598 [T/C] NM_015241,NM_001122731,NM_001136004 MICAL3,MICAL3,MICAL3 EXON Silent,Silent,Missense_G1015D exm1583963 22 18347692 [T/C] NM_015241,NM_001122731,NM_001136004 MICAL3,MICAL3,MICAL3 EXON Missense_V860M,Missense_V860M,Missense_V984M exm1583965 22 18347695 [T/C] NM_015241,NM_001122731,NM_001136004 MICAL3,MICAL3,MICAL3 EXON Missense_A859T,Missense_A859T,Missense_A983T exm1583975 22 18348743 [A/G] NM_015241,NM_001122731,NM_001136004 MICAL3,MICAL3,MICAL3 EXON Missense_L822F,Missense_L822F,Missense_L946F exm1583985 22 18354783 [T/G] NM_015241,NM_001122731,NM_001136004 MICAL3,MICAL3,MICAL3 EXON Missense_M750L,Missense_M750L,Missense_M874L exm1583990 22 18355596 [T/C] NM_015241,NM_001122731,NM_001136004 MICAL3,MICAL3,MICAL3 EXON Silent,Silent,Missense_G844R exm1583996 22 18358243 [A/G] NM_015241,NM_001122731,NM_001136004 MICAL3,MICAL3,MICAL3 EXON Silent,Silent,Synonymous_P825P exm2254969 22 18358243 [A/G] NM_015241,NM_001122731,NM_001136004 MICAL3,MICAL3,MICAL3 EXON Silent,Silent,Synonymous_P825P exm1583997 22 18358260 [A/G] NM_015241,NM_001122731,NM_001136004 MICAL3,MICAL3,MICAL3 EXON Silent,Silent,Missense_R820C exm1584001 22 18358301 [T/C] NM_015241,NM_001122731,NM_001136004 MICAL3,MICAL3,MICAL3 EXON Silent,Silent,Missense_R806H exm1584003 22 18362122 [T/C] NM_015241,NM_001122731,NM_001136004 MICAL3,MICAL3,MICAL3 EXON Silent,Silent,Missense_H796R exm1584010 22 18364065 [T/C] NM_015241,NM_001122731,NM_001136004 MICAL3,MICAL3,MICAL3 EXON Silent,Silent,Missense_R749Q exm1584011 22 18364066 [A/G] NM_015241,NM_001122731,NM_001136004 MICAL3,MICAL3,MICAL3 EXON Silent,Silent,Missense_R749W exm1584031 22 18369986 [T/C] NM_015241,NM_001122731,NM_001136004 MICAL3,MICAL3,MICAL3 EXON Missense_K673E,Missense_K673E,Missense_K673E exm2254970 22 18371819 [T/C] NM_015241,NM_001122731,NM_001136004 MICAL3,MICAL3,MICAL3 EXON Synonymous_K624K,Synonymous_K624K,Synonymous_K624K exm1584041 22 18371970 [T/C] NM_015241,NM_001122731,NM_001136004 MICAL3,MICAL3,MICAL3 EXON Missense_N574S,Missense_N574S,Missense_N574S exm1584044 22 18374272 [T/C] NM_015241,NM_001122731,NM_001136004 MICAL3,MICAL3,MICAL3 EXON Missense_H558R,Missense_H558R,Missense_H558R exm1584050 22 18376646 [T/C] NM_015241,NM_001122731,NM_001136004 MICAL3,MICAL3,MICAL3 EXON Missense_E492K,Missense_E492K,Missense_E492K exm1584068 22 18379620 [T/C] NM_015241,NM_001122731,NM_001136004 MICAL3,MICAL3,MICAL3 EXON Missense_N359S,Missense_N359S,Missense_N359S exm1584098 22 18389548 [G/C] NM_015241,NM_001122731,NM_001136004 MICAL3,MICAL3,MICAL3 EXON Missense_P11A,Missense_P11A,Missense_P11A exm1584122 22 18562701 [T/C] NM_017929,NM_001199319,NM_001127649 PEX26,PEX26,PEX26 EXON Missense_R98W,Missense_R98W,Missense_R98W exm1584125 22 18562734 [T/C] NM_017929,NM_001199319,NM_001127649 PEX26,PEX26,PEX26 EXON Missense_Y109H,Missense_Y109H,Missense_Y109H exm1584129 22 18566240 [G/C] NM_017929,NM_001199319,NM_001127649 PEX26,PEX26,PEX26 EXON Missense_V137L,Missense_V137L,Missense_V137L exm1584131 22 18566288 [G/C] NM_017929,NM_001199319,NM_001127649 PEX26,PEX26,PEX26 EXON Missense_L153V,Missense_L153V,Missense_L153V exm1584134 22 18566328 [A/G] NM_017929,NM_001199319,NM_001127649 PEX26,PEX26,PEX26 EXON Missense_R166Q,Missense_R166Q,Missense_R166Q exm2235244 22 18566379 [A/G] NM_017929,NM_001199319,NM_001127649 PEX26,PEX26,PEX26 EXON Missense_G183D,Missense_G183D,Missense_G183D exm1584139 22 18566474 [A/G] NM_017929,NM_001199319,NM_001127649 PEX26,PEX26,PEX26 EXON Missense_E215K,Missense_E215K,Missense_E215K exm1584146 22 18567938 [T/C] NM_017929,NM_001199319,NM_001127649 PEX26,PEX26,PEX26 EXON Missense_A243V,Silent,Missense_A243V exm1584151 22 18570809 [T/C] NM_017929,NM_001199319,NM_001127649 PEX26,PEX26,PEX26 EXON Missense_S296P,Missense_S247P,Missense_S296P exm1584154 22 18570834 [A/G] NM_017929,NM_001199319,NM_001127649 PEX26,PEX26,PEX26 EXON Missense_R304H,Missense_R255H,Missense_R304H exm1584172 22 18606946 [T/C] NM_001193414,NM_018943 TUBA8,TUBA8 EXON Missense_R18C,Missense_R84C exm1584173 22 18606947 [A/G] NM_001193414,NM_018943 TUBA8,TUBA8 EXON Missense_R18H,Missense_R84H exm1584182 22 18609128 [T/C] NM_001193414,NM_018943 TUBA8,TUBA8 EXON Missense_A62V,Missense_A128V exm1584185 22 18609211 [T/C] NM_001193414,NM_018943 TUBA8,TUBA8 EXON Missense_R90C,Missense_R156C exm2254972 22 18609213 [T/C] NM_001193414,NM_018943 TUBA8,TUBA8 EXON Synonymous_R90R,Synonymous_R156R exm1584197 22 18609493 [A/G] NM_001193414,NM_018943 TUBA8,TUBA8 EXON Missense_V184M,Missense_V250M exm1584207 22 18609661 [A/G] NM_001193414,NM_018943 TUBA8,TUBA8 EXON Missense_D240N,Missense_D306N exm1584210 22 18609703 [T/C] NM_001193414,NM_018943 TUBA8,TUBA8 EXON Missense_R254W,Missense_R320W exm1584211 22 18609712 [A/G] NM_001193414,NM_018943 TUBA8,TUBA8 EXON Missense_V257M,Missense_V323M exm2268432 22 18611223 [A/G] NM_001193414,NM_018943 TUBA8,TUBA8 Silent,Silent exm1584231 22 18613893 [A/G] NM_001193414,NM_018943 TUBA8,TUBA8 EXON Missense_E381G,Missense_E447G exm1584242 22 18640503 [A/G] NM_017414 USP18 EXON Missense_D25N exm1584243 22 18640527 [A/G] NM_017414 USP18 EXON Missense_D33N exm1584253 22 18643020 [T/C] NM_017414 USP18 EXON Missense_T80I exm2235250 22 18650726 [T/G] NM_017414 USP18 EXON Nonsense_E184X exm2277214 22 18650746 [A/C] NM_017414 USP18 EXON Missense_S190R exm1584266 22 18650803 [A/G] NM_017414 USP18 EXON Synonymous_L209L exm1584351 22 18900755 [T/C] NM_016335,NM_001195226 PRODH,PRODH EXON Missense_R579Q,Missense_R471Q exm1584357 22 18901004 [T/C] NM_016335,NM_001195226 PRODH,PRODH EXON Missense_R521Q,Missense_R413Q exm1584359 22 18901008 [A/G] NM_016335,NM_001195226 PRODH,PRODH EXON Missense_H520Y,Missense_H412Y exm1584429 22 18910355 [T/G] NM_016335,NM_001195226 PRODH,PRODH EXON Missense_T275N,Missense_T167N exm1584431 22 18910412 [A/C] NM_016335,NM_001195226 PRODH,PRODH EXON Missense_C256F,Missense_C148F exm1584432 22 18910446 [A/G] NM_016335,NM_001195226 PRODH,PRODH EXON Synonymous_L245L,Synonymous_L137L exm1584444 22 18912581 [T/C] NM_016335,NM_001195226 PRODH,PRODH EXON Missense_R217H,Missense_R109H exm1998119 22 18912612 [T/G] NM_016335,NM_001195226 PRODH,PRODH EXON Missense_K207Q,Missense_K99Q exm1584448 22 18912620 [T/C] NM_016335,NM_001195226 PRODH,PRODH EXON Missense_N204S,Missense_N96S exm1584450 22 18912653 [T/C] NM_016335,NM_001195226 PRODH,PRODH EXON Missense_G193D,Missense_G85D exm2235256 22 18912662 [T/C] NM_016335,NM_001195226 PRODH,PRODH EXON Missense_R190H,Missense_R82H exm1584452 22 18912677 [T/C] NM_016335,NM_001195226 PRODH,PRODH EXON Nonsense_W185X,Nonsense_W77X exm1584453 22 18912678 [A/G] NM_016335,NM_001195226 PRODH,PRODH EXON Missense_W185R,Missense_W77R exm1584465 22 18918528 [T/C] NM_016335,NM_001195226 PRODH,PRODH EXON Missense_E153K,Missense_E45K exm1584475 22 18918666 [T/C] NM_016335,NM_001195226 PRODH,PRODH EXON Missense_K107E,Silent exm1584504 22 19026403 [T/C] NM_001173533,NM_001173534,NR_033674,NM_001184781,NM_005137 DGCR2,DGCR2,DGCR2,DGCR2,DGCR2 EXON Missense_R502H,Missense_R499H,Silent,Missense_R540H,Missense_R543H exm1584505 22 19026413 [A/G] NM_001173533,NM_001173534,NR_033674,NM_001184781,NM_005137 DGCR2,DGCR2,DGCR2,DGCR2,DGCR2 EXON Missense_R499C,Missense_R496C,Silent,Missense_R537C,Missense_R540C exm1584512 22 19026506 [A/C] NM_001173533,NM_001173534,NR_033674,NM_001184781,NM_005137 DGCR2,DGCR2,DGCR2,DGCR2,DGCR2 EXON Missense_D468Y,Missense_D465Y,Silent,Missense_D506Y,Missense_D509Y exm1584514 22 19026556 [T/C] NM_001173533,NM_001173534,NR_033674,NM_001184781,NM_005137 DGCR2,DGCR2,DGCR2,DGCR2,DGCR2 EXON Missense_R451H,Missense_R448H,Silent,Missense_R489H,Missense_R492H exm1584516 22 19026613 [A/G] NM_001173533,NM_001173534,NR_033674,NM_001184781,NM_005137 DGCR2,DGCR2,DGCR2,DGCR2,DGCR2 EXON Missense_V432A,Missense_V429A,Silent,Missense_V470A,Missense_V473A exm1584517 22 19026633 [A/G] NM_001173533,NM_001173534,NR_033674,NM_001184781,NM_005137 DGCR2,DGCR2,DGCR2,DGCR2,DGCR2 EXON Synonymous_D425D,Synonymous_D422D,Silent,Synonymous_D463D,Synonymous_D466D exm1584518 22 19028580 [A/C] NM_001173533,NM_001173534,NR_033674,NM_001184781,NM_005137 DGCR2,DGCR2,DGCR2,DGCR2,DGCR2 EXON Missense_D422Y,Missense_D419Y,Silent,Missense_D460Y,Missense_D463Y exm1584520 22 19028643 [T/C] NM_001173533,NM_001173534,NR_033674,NM_001184781,NM_005137 DGCR2,DGCR2,DGCR2,DGCR2,DGCR2 EXON Missense_G401S,Missense_G398S,Silent,Missense_G439S,Missense_G442S exm1584529 22 19029374 [A/G] NM_001173533,NM_001173534,NR_033674,NM_001184781,NM_005137 DGCR2,DGCR2,DGCR2,DGCR2,DGCR2 EXON Missense_H328Y,Missense_H325Y,Silent,Missense_H366Y,Missense_H369Y exm1584538 22 19036129 [T/C] NM_001173533,NM_001173534,NR_033674,NM_001184781,NM_005137 DGCR2,DGCR2,DGCR2,DGCR2,DGCR2 EXON Missense_N236S,Missense_N233S,Silent,Missense_N274S,Missense_N277S exm1584544 22 19044565 [A/G] NM_001173533,NM_001173534,NR_033674,NM_001184781,NM_005137 DGCR2,DGCR2,DGCR2,DGCR2,DGCR2 EXON Missense_H205Y,Missense_H202Y,Silent,Missense_H243Y,Missense_H246Y exm2273018 22 19049602 [T/G] NM_001173533,NM_001173534,NR_033674,NM_001184781,NM_005137 DGCR2,DGCR2,DGCR2,DGCR2,DGCR2 Silent,Silent,Silent,Silent,Silent exm1584567 22 19050719 [C/G] NM_001173533,NM_001173534,NR_033674,NM_001184781,NM_005137 DGCR2,DGCR2,DGCR2,DGCR2,DGCR2 EXON Missense_F166L,Missense_F163L,Silent,Missense_F204L,Missense_F207L exm1998190 22 19050750 [T/C] NM_001173533,NM_001173534,NR_033674,NM_001184781,NM_005137 DGCR2,DGCR2,DGCR2,DGCR2,DGCR2 EXON Missense_R156H,Missense_R153H,Silent,Missense_R194H,Missense_R197H exm1584575 22 19052424 [A/C] NM_001173533,NM_001173534,NR_033674,NM_001184781,NM_005137 DGCR2,DGCR2,DGCR2,DGCR2,DGCR2 EXON Missense_R121L,Missense_R118L,Silent,Missense_R159L,Missense_R162L exm1584579 22 19052506 [T/C] NM_001173533,NM_001173534,NR_033674,NM_001184781,NM_005137 DGCR2,DGCR2,DGCR2,DGCR2,DGCR2 EXON Missense_G94R,Missense_G91R,Silent,Missense_G132R,Missense_G135R exm1584585 22 19055637 [T/C] NM_001173533,NM_001173534,NR_033674,NM_001184781,NM_005137 DGCR2,DGCR2,DGCR2,DGCR2,DGCR2 EXON Missense_V61M,Missense_V61M,Silent,Missense_V102M,Missense_V102M exm1584600 22 19076970 [T/C] NM_001173533,NM_001173534,NR_033674,NM_001184781,NM_005137 DGCR2,DGCR2,DGCR2,DGCR2,DGCR2 EXON Silent,Silent,Silent,Missense_R38H,Missense_R38H exm1998231 22 19109689 [A/G] NM_001173533,NM_001173534,NR_033674,NM_001184781,NM_005137 DGCR2,DGCR2,DGCR2,DGCR2,DGCR2 EXON Synonymous_L11L,Synonymous_L11L,Silent,Synonymous_L11L,Synonymous_L11L exm1584620 22 19118992 [A/G] NM_022719,NM_053006 DGCR14,TSSK2 EXON Silent,Missense_K27R exm1584622 22 19119010 [A/G] NM_022719,NM_053006 DGCR14,TSSK2 EXON Silent,Missense_R33H exm1584623 22 19119021 [A/G] NM_022719,NM_053006 DGCR14,TSSK2 EXON Silent,Missense_N37D exm1584629 22 19119134 [C/G] NM_022719,NM_053006 DGCR14,TSSK2 EXON Silent,Missense_K74N exm1584634 22 19119252 [T/C] NM_022719,NM_053006 DGCR14,TSSK2 EXON Silent,Missense_R114C exm1584639 22 19119336 [G/C] NM_022719,NM_053006 DGCR14,TSSK2 EXON Silent,Missense_L142V exm1584666 22 19119751 [T/C] NM_022719,NM_053006 DGCR14,TSSK2 EXON Silent,Missense_T280M exm1584669 22 19119778 [C/G] NM_022719,NM_053006 DGCR14,TSSK2 EXON Silent,Missense_G289A exm1584673 22 19119801 [T/C] NM_022719,NM_053006 DGCR14,TSSK2 EXON Silent,Missense_C297R exm1584677 22 19119836 [A/C] NM_022719,NM_053006 DGCR14,TSSK2 EXON Silent,Missense_D308E exm1998256 22 19121722 [G/C] NM_022719 DGCR14 EXON Missense_S473W exm1584701 22 19121872 [A/G] NM_022719 DGCR14 EXON Missense_A423V exm1584715 22 19124865 [T/C] NM_022719 DGCR14 EXON Missense_V336M exm1998270 22 19125772 [T/C] NM_022719 DGCR14 EXON Missense_R294Q exm1584730 22 19126745 [T/C] NM_022719 DGCR14 EXON Missense_R250H exm1584742 22 19127403 [T/C] NM_022719 DGCR14 EXON Missense_A179T exm1584746 22 19127414 [T/C] NM_022719 DGCR14 EXON Missense_R175Q exm1584760 22 19130146 [T/C] NM_022719 DGCR14 EXON Missense_Y102C exm1584762 22 19130247 [A/G] NM_022719 DGCR14 EXON Missense_P99L exm1584775 22 19132135 [A/C] NM_022719 DGCR14 EXON Missense_S7A exm1584779 22 19136508 [G/C] NM_005315 GSC2 EXON Missense_C205S exm-rs5748014 22 19148721 [A/C] exm1584808 22 19163991 [T/C] NM_001256534,NR_046298,NR_033687,NM_005984 SLC25A1,SLC25A1,SLC25A1,SLC25A1 EXON Missense_K262R,Silent,Silent,Missense_K255R exm1584834 22 19168288 [T/C] NM_001835,NM_007098 CLTCL1,CLTCL1 EXON Missense_R1563H,Missense_R1620H exm1998427 22 19170956 [C/G] NM_001835,NM_007098 CLTCL1,CLTCL1 EXON Missense_V1535L,Missense_V1592L exm1584844 22 19171053 [G/C] NM_001835,NM_007098 CLTCL1,CLTCL1 EXON Missense_E1502D,Missense_E1559D exm1584846 22 19175095 [A/C] NM_001835,NM_007098 CLTCL1,CLTCL1 EXON Silent,Missense_L1527R exm1584849 22 19175143 [A/G] NM_001835,NM_007098 CLTCL1,CLTCL1 EXON Silent,Missense_A1511V exm1584851 22 19175161 [A/G] NM_001835,NM_007098 CLTCL1,CLTCL1 EXON Silent,Missense_M1505T exm1584860 22 19178854 [A/G] NM_001835,NM_007098 CLTCL1,CLTCL1 EXON Missense_R1429W,Missense_R1429W exm1584864 22 19183787 [A/G] NM_001835,NM_007098 CLTCL1,CLTCL1 EXON Missense_I1394T,Missense_I1394T exm1584871 22 19184095 [T/C] NM_001835,NM_007098 CLTCL1,CLTCL1 EXON Missense_M1316V,Missense_M1316V exm1584875 22 19184146 [C/G] NM_001835,NM_007098 CLTCL1,CLTCL1 EXON Missense_L1299V,Missense_L1299V exm1584879 22 19187289 [T/C] NM_001835,NM_007098 CLTCL1,CLTCL1 EXON Missense_V1277I,Missense_V1277I exm1584887 22 19188971 [T/C] NM_001835,NM_007098 CLTCL1,CLTCL1 EXON Missense_E1212K,Missense_E1212K exm1584890 22 19195680 [T/C] NM_001835,NM_007098 CLTCL1,CLTCL1 EXON Missense_N1195S,Missense_N1195S exm1584897 22 19195771 [A/G] NM_001835,NM_007098 CLTCL1,CLTCL1 EXON Missense_R1165C,Missense_R1165C exm1584899 22 19196449 [T/C] NM_001835,NM_007098 CLTCL1,CLTCL1 EXON Missense_Q1142R,Missense_Q1142R exm1584903 22 19196491 [T/C] NM_001835,NM_007098 CLTCL1,CLTCL1 EXON Missense_Y1128C,Missense_Y1128C exm1584912 22 19196615 [T/C] NM_001835,NM_007098 CLTCL1,CLTCL1 EXON Missense_E1087K,Missense_E1087K exm1584920 22 19197949 [A/G] NM_001835,NM_007098 CLTCL1,CLTCL1 EXON Missense_R1046C,Missense_R1046C exm1584926 22 19197988 [A/T] NM_001835,NM_007098 CLTCL1,CLTCL1 EXON Missense_I1033F,Missense_I1033F exm1584927 22 19198017 [A/T] NM_001835,NM_007098 CLTCL1,CLTCL1 EXON Missense_N1023I,Missense_N1023I exm1584928 22 19203625 [A/G] NM_001835,NM_007098 CLTCL1,CLTCL1 EXON Missense_H1021Y,Missense_H1021Y exm1584931 22 19203682 [T/C] NM_001835,NM_007098 CLTCL1,CLTCL1 EXON Missense_N1002D,Missense_N1002D exm1584936 22 19207411 [T/C] NM_001835,NM_007098 CLTCL1,CLTCL1 EXON Missense_R968G,Missense_R968G exm1584940 22 19207470 [A/C] NM_001835,NM_007098 CLTCL1,CLTCL1 EXON Missense_V948G,Missense_V948G exm1584941 22 19207479 [T/C] NM_001835,NM_007098 CLTCL1,CLTCL1 EXON Missense_R945H,Missense_R945H exm1998477 22 19207487 [A/G] NM_001835,NM_007098 CLTCL1,CLTCL1 EXON Synonymous_S942S,Synonymous_S942S exm1584943 22 19207491 [T/C] NM_001835,NM_007098 CLTCL1,CLTCL1 EXON Missense_K941R,Missense_K941R exm1584957 22 19209604 [A/G] NM_001835,NM_007098 CLTCL1,CLTCL1 EXON Missense_R811W,Missense_R811W exm1584965 22 19211467 [A/T] NM_001835,NM_007098 CLTCL1,CLTCL1 EXON Missense_I747L,Missense_I747L exm1584970 22 19212984 [T/C] NM_001835,NM_007098 CLTCL1,CLTCL1 EXON Missense_S707N,Missense_S707N exm1584971 22 19213033 [T/C] NM_001835,NM_007098 CLTCL1,CLTCL1 EXON Missense_E691K,Missense_E691K exm1584976 22 19213150 [A/C] NM_001835,NM_007098 CLTCL1,CLTCL1 EXON Missense_V652F,Missense_V652F exm1584977 22 19213744 [T/C] NM_001835,NM_007098 CLTCL1,CLTCL1 EXON Missense_E649K,Missense_E649K exm1584982 22 19213869 [T/C] NM_001835,NM_007098 CLTCL1,CLTCL1 EXON Missense_H607R,Missense_H607R exm1584984 22 19217375 [A/C] NM_001835,NM_007098 CLTCL1,CLTCL1 EXON Missense_V590F,Missense_V590F exm1584987 22 19217422 [T/C] NM_001835,NM_007098 CLTCL1,CLTCL1 EXON Missense_R574H,Missense_R574H exm1584989 22 19217488 [A/G] NM_001835,NM_007098 CLTCL1,CLTCL1 EXON Missense_I552T,Missense_I552T exm1584992 22 19220018 [A/G] NM_001835,NM_007098 CLTCL1,CLTCL1 EXON Missense_P542L,Missense_P542L exm1585000 22 19220066 [A/G] NM_001835,NM_007098 CLTCL1,CLTCL1 EXON Missense_P526L,Missense_P526L exm1585005 22 19220768 [T/C] NM_001835,NM_007098 CLTCL1,CLTCL1 EXON Missense_R481Q,Missense_R481Q exm1585008 22 19220971 [T/G] NM_001835,NM_007098 CLTCL1,CLTCL1 EXON Missense_L448I,Missense_L448I exm1585017 22 19221123 [A/G] NM_001835,NM_007098 CLTCL1,CLTCL1 EXON Missense_T397M,Missense_T397M exm1585018 22 19221135 [T/C] NM_001835,NM_007098 CLTCL1,CLTCL1 EXON Missense_R393H,Missense_R393H exm1998520 22 19222138 [T/C] NM_001835,NM_007098 CLTCL1,CLTCL1 EXON Missense_R354H,Missense_R354H exm1585028 22 19222211 [T/C] NM_001835,NM_007098 CLTCL1,CLTCL1 EXON Missense_E330K,Missense_E330K exm1585029 22 19223229 [T/C] NM_001835,NM_007098 CLTCL1,CLTCL1 EXON Missense_K320R,Missense_K320R exm1585033 22 19223298 [C/G] NM_001835,NM_007098 CLTCL1,CLTCL1 EXON Missense_R297P,Missense_R297P exm1998532 22 19223332 [C/G] NM_001835,NM_007098 CLTCL1,CLTCL1 EXON Missense_D286H,Missense_D286H exm1585039 22 19226874 [T/C] NM_001835,NM_007098 CLTCL1,CLTCL1 EXON Missense_N240S,Missense_N240S exm1585042 22 19230365 [T/C] NM_001835,NM_007098 CLTCL1,CLTCL1 EXON Missense_K205R,Missense_K205R exm1585051 22 19241609 [T/C] NM_001835,NM_007098 CLTCL1,CLTCL1 EXON Missense_S131N,Missense_S131N exm1585054 22 19241625 [T/C] NM_001835,NM_007098 CLTCL1,CLTCL1 EXON Missense_A126T,Missense_A126T exm1585055 22 19241631 [T/C] NM_001835,NM_007098 CLTCL1,CLTCL1 EXON Missense_E124K,Missense_E124K exm1585057 22 19241688 [T/C] NM_001835,NM_007098 CLTCL1,CLTCL1 EXON Missense_A105T,Missense_A105T exm1585063 22 19263200 [T/C] NM_001835,NM_007098 CLTCL1,CLTCL1 EXON Missense_I66V,Missense_I66V exm1585066 22 19263214 [A/G] NM_001835,NM_007098 CLTCL1,CLTCL1 EXON Missense_P61L,Missense_P61L exm1585067 22 19263266 [A/C] NM_001835,NM_007098 CLTCL1,CLTCL1 EXON Missense_V44F,Missense_V44F exm2235270 22 19340888 [T/C] NM_003325 HIRA EXON Missense_V947I exm1585102 22 19343298 [A/G] NM_003325 HIRA EXON Missense_P849L exm1585112 22 19344569 [A/G] NM_003325 HIRA EXON Missense_V747A exm1585117 22 19346884 [A/G] NM_003325 HIRA EXON Missense_R737W exm1585119 22 19346934 [T/C] NM_003325 HIRA EXON Missense_R720H exm1998747 22 19363188 [T/C] NM_003325 HIRA EXON Missense_A581T exm1585163 22 19365575 [A/G] NM_003325 HIRA EXON Missense_A477V exm1585168 22 19373100 [A/T] NM_003325 HIRA EXON Missense_S425T exm1585185 22 19384377 [T/C] NM_003325 HIRA EXON Missense_R196H exm1585211 22 19420090 [G/C] NM_003776 MRPL40 EXON Missense_V5L exm1585212 22 19420109 [T/C] NM_003776 MRPL40 EXON Missense_L11P exm1585222 22 19420851 [C/G] NM_003776 MRPL40 EXON Missense_F39L exm1585229 22 19423196 [G/C] NM_003776 MRPL40 EXON Missense_T111S exm1585230 22 19423210 [G/C] NM_003776 MRPL40 EXON Missense_L116V exm1585231 22 19423214 [T/C] NM_003776 MRPL40 EXON Missense_L117P exm1585234 22 19423250 [A/G] NM_003776 MRPL40 EXON Missense_R129H exm1585240 22 19423354 [T/C] NM_003776 MRPL40 EXON Missense_R164W exm1585251 22 19431805 [C/G] NM_001166242,NM_173793 C22orf39,C22orf39 EXON Silent,Missense_Q138E exm1585257 22 19434995 [T/C] NM_001166242,NM_173793 C22orf39,C22orf39 EXON Missense_Y70C,Missense_Y70C exm1998804 22 19435225 [C/G] NM_001166242,NM_173793 C22orf39,C22orf39 EXON Missense_A33G,Missense_A33G exm1585291 22 19445594 [A/G] NM_001035247,NM_005659 UFD1L,UFD1L EXON Synonymous_N188N,Synonymous_N188N exm1585296 22 19455430 [C/G] NM_001035247,NM_005659 UFD1L,UFD1L EXON Missense_P130A,Missense_P130A exm1585314 22 19467510 [C/G] NM_001178011,NM_001178010,NM_003504 CDC45,CDC45,CDC45 EXON Missense_R7G,Missense_R7G,Missense_R7G exm1585326 22 19470249 [A/G] NM_001178011,NM_001178010,NM_003504 CDC45,CDC45,CDC45 EXON Silent,Missense_V81I,Missense_V81I exm1585327 22 19470273 [T/C] NM_001178011,NM_001178010,NM_003504 CDC45,CDC45,CDC45 EXON Silent,Missense_P89S,Missense_P89S exm1585330 22 19470310 [A/G] NM_001178011,NM_001178010,NM_003504 CDC45,CDC45,CDC45 EXON Silent,Missense_H101R,Missense_H101R exm1585334 22 19471407 [A/G] NM_001178011,NM_001178010,NM_003504 CDC45,CDC45,CDC45 EXON Missense_D76G,Missense_D122G,Missense_D122G exm1585335 22 19471414 [A/C] NM_001178011,NM_001178010,NM_003504 CDC45,CDC45,CDC45 EXON Missense_D78E,Missense_D124E,Missense_D124E exm1585341 22 19471506 [A/G] NM_001178011,NM_001178010,NM_003504 CDC45,CDC45,CDC45 EXON Missense_E109G,Missense_E155G,Missense_E155G exm1585350 22 19482035 [G/C] NM_001178011,NM_001178010,NM_003504 CDC45,CDC45,CDC45 EXON Silent,Missense_S183C,Silent exm1585357 22 19483552 [A/G] NM_001178011,NM_001178010,NM_003504 CDC45,CDC45,CDC45 EXON Synonymous_S151S,Synonymous_S229S,Synonymous_S197S exm1585370 22 19492986 [A/G] NM_001178011,NM_001178010,NM_003504 CDC45,CDC45,CDC45 EXON Missense_R223Q,Missense_R301Q,Missense_R269Q exm1585378 22 19495012 [T/C] NM_001178011,NM_001178010,NM_003504 CDC45,CDC45,CDC45 EXON Missense_R264W,Missense_R342W,Missense_R310W exm1585384 22 19496123 [A/G] NM_001178011,NM_001178010,NM_003504 CDC45,CDC45,CDC45 EXON Missense_V330M,Missense_V408M,Missense_V376M exm1585394 22 19502488 [A/G] NM_001178011,NM_001178010,NM_003504 CDC45,CDC45,CDC45 EXON Missense_G407S,Missense_G485S,Missense_G453S exm1585399 22 19504113 [A/G] NM_001178011,NM_001178010,NM_003504 CDC45,CDC45,CDC45 EXON Missense_G456S,Missense_G534S,Missense_G502S exm1585401 22 19504134 [A/G] NM_001178011,NM_001178010,NM_003504 CDC45,CDC45,CDC45 EXON Missense_I463V,Missense_I541V,Missense_I509V exm1998923 22 19504398 [A/G] NM_001178011,NM_001178010,NM_003504 CDC45,CDC45,CDC45 EXON Missense_N494D,Missense_N572D,Missense_N540D exm1585418 22 19511229 [T/C] NM_001130861,NM_003277 CLDN5,CLDN5 EXON Missense_G269S,Missense_G269S exm1585422 22 19511273 [G/C] NM_001130861,NM_003277 CLDN5,CLDN5 EXON Missense_A254G,Missense_A254G exm1585436 22 19511684 [A/C] NM_001130861,NM_003277 CLDN5,CLDN5 EXON Missense_V117G,Missense_V117G exm1585447 22 19511925 [A/G] NM_001130861,NM_003277 CLDN5,CLDN5 EXON Nonsense_Q37X,Nonsense_Q37X exm2268400 22 19588535 [A/G] exm-rs1015939 22 19678655 [T/C] exm1585474 22 19707639 [A/G] NM_002688,NR_037611,NM_001009939,NR_037612 SEPT5,SEPT5-GP1BB,SEPT5,SEPT5-GP1BB EXON Synonymous_E80E,Silent,Synonymous_E89E,Silent exm1585524 22 19747082 [G/C] NM_080647,NM_080646,NM_005992 TBX1,TBX1,TBX1 EXON Silent,Silent,Silent exm1585559 22 19751849 [T/C] NM_080647,NM_080646,NM_005992 TBX1,TBX1,TBX1 EXON Synonymous_H228H,Synonymous_H228H,Synonymous_H228H exm1585560 22 19752592 [A/G] NM_080647,NM_080646,NM_005992 TBX1,TBX1,TBX1 EXON Missense_E266K,Missense_E266K,Missense_E266K exm1585573 22 19754176 [A/G] NM_080647,NM_080646,NM_005992 TBX1,TBX1,TBX1 EXON Missense_H425R,Silent,Silent exm1585581 22 19766752 [A/T] NM_080646,NM_005992 TBX1,TBX1 EXON Missense_V340D,Silent exm1585582 22 19766782 [T/C] NM_080646,NM_005992 TBX1,TBX1 EXON Missense_T350M,Silent exm1585583 22 19766797 [G/C] NM_080646,NM_005992 TBX1,TBX1 EXON Missense_P355R,Silent exm1585593 22 19766910 [A/G] NM_080646,NM_005992 TBX1,TBX1 EXON Missense_A393T,Silent exm1585603 22 19776240 [A/G] NM_053004 GNB1L EXON Missense_R326C exm1585609 22 19776303 [T/C] NM_053004 GNB1L EXON Missense_A305T exm1585615 22 19776365 [A/G] NM_053004 GNB1L EXON Missense_T284M exm1585631 22 19789541 [A/C] NM_053004 GNB1L EXON Missense_W239G exm1585633 22 19789574 [T/C] NM_053004 GNB1L EXON Missense_A228T exm1585636 22 19789621 [A/G] NM_053004 GNB1L EXON Missense_M212T exm1585637 22 19789649 [A/G] NM_053004 GNB1L EXON Missense_R203C exm1585660 22 19808120 [A/C] NM_053004 GNB1L Silent exm1585661 22 19808137 [T/C] NM_053004 GNB1L EXON Missense_G80R exm1585665 22 19808199 [A/G] NM_053004 GNB1L EXON Missense_A59V exm1585666 22 19808205 [T/C] NM_053004 GNB1L EXON Missense_R57Q exm1585671 22 19808769 [T/C] NM_053004 GNB1L EXON Missense_R37H exm1585674 22 19808791 [T/C] NM_053004 GNB1L EXON Missense_E30K exm1999333 22 19808805 [A/G] NM_053004 GNB1L EXON Missense_A25V exm1585682 22 19808859 [C/G] NM_053004 GNB1L EXON Missense_P7R exm1585684 22 19808874 [A/G] NM_053004 GNB1L EXON Missense_T2M exm1585700 22 19839019 [T/C] NM_053004,NM_024627 GNB1L,C22orf29 EXON Silent,Missense_E256K exm1585707 22 19839274 [A/G] NM_053004,NM_024627 GNB1L,C22orf29 EXON Silent,Missense_F171L exm1999343 22 19839334 [A/G] NM_053004,NM_024627 GNB1L,C22orf29 EXON Silent,Nonsense_Q151X exm1585715 22 19839351 [T/C] NM_053004,NM_024627 GNB1L,C22orf29 EXON Silent,Missense_R145H exm1585717 22 19839418 [A/C] NM_053004,NM_024627 GNB1L,C22orf29 EXON Silent,Missense_D123Y exm1585719 22 19839438 [T/C] NM_053004,NM_024627 GNB1L,C22orf29 EXON Silent,Missense_R116H exm1585720 22 19839453 [A/G] NM_053004,NM_024627 GNB1L,C22orf29 EXON Silent,Missense_P111L exm1585726 22 19839516 [T/C] NM_053004,NM_024627 GNB1L,C22orf29 EXON Silent,Missense_R90Q exm1999347 22 19839517 [A/G] NM_053004,NM_024627 GNB1L,C22orf29 EXON Silent,Nonsense_R90X exm1585728 22 19839606 [A/G] NM_053004,NM_024627 GNB1L,C22orf29 EXON Silent,Missense_T60M exm1585734 22 19839727 [A/T] NM_053004,NM_024627 GNB1L,C22orf29 EXON Silent,Missense_N20Y exm2268433 22 19840123 [A/G] NM_053004,NM_024627 GNB1L,C22orf29 Silent,Silent exm1585738 22 19864669 [A/G] NM_006440 TXNRD2 EXON Missense_R512C exm1585740 22 19864680 [T/C] NM_006440 TXNRD2 EXON Missense_R508H exm1999368 22 19864729 [A/G] NM_006440 TXNRD2 EXON Missense_R492W exm2275356 22 19865895 [A/C] NM_006440 TXNRD2 EXON Nonsense_Y447X exm1585753 22 19865915 [A/G] NM_006440 TXNRD2 EXON Nonsense_R441X exm1585762 22 19867782 [T/C] NM_006440 TXNRD2 EXON Missense_V399I exm1585766 22 19868153 [A/G] NM_006440 TXNRD2 EXON Missense_Y392H exm1585770 22 19868177 [T/C] NM_006440 TXNRD2 EXON Missense_G384S exm1585774 22 19868218 [A/G] NM_006440 TXNRD2 EXON Missense_I370T exm1585784 22 19870918 [A/T] NM_006440 TXNRD2 EXON Missense_Q339L exm1585798 22 19882984 [T/G] NM_006440 TXNRD2 EXON Missense_S299R exm1585800 22 19883032 [A/G] NM_006440 TXNRD2 EXON Missense_R283W exm1585805 22 19885573 [C/G] NM_006440 TXNRD2 EXON Missense_G255R exm1999518 22 19898900 [A/G] NM_006440 TXNRD2 EXON Missense_T221M exm1585819 22 19898906 [C/G] NM_006440 TXNRD2 EXON Missense_G219A exm1999519 22 19898912 [T/G] NM_006440 TXNRD2 EXON Missense_S217Y exm1585821 22 19898939 [T/C] NM_006440 TXNRD2 EXON Missense_S208N exm1585822 22 19898951 [T/C] NM_006440 TXNRD2 EXON Missense_Y204C exm1585835 22 19903290 [G/C] NM_006440 TXNRD2 EXON Missense_E176Q exm1585836 22 19903311 [T/C] NM_006440 TXNRD2 EXON Missense_G169S exm1585843 22 19906410 [T/C] NM_006440 TXNRD2 EXON Missense_E116G exm1585849 22 19906498 [T/C] NM_006440 TXNRD2 EXON Missense_V87I exm2254994 22 19906511 [A/G] NM_006440 TXNRD2 EXON Synonymous_L82L exm1585856 22 19907099 [A/C] NM_006440 TXNRD2 EXON Missense_A66S exm1585859 22 19918615 [T/A] NM_006440 TXNRD2 EXON Missense_Q37L exm1585867 22 19950143 [A/G] NM_000754,NM_001135161,NM_001135162,NM_007310 COMT,COMT,COMT,COMT EXON Missense_G32S,Missense_G32S,Missense_G32S,Silent exm1585872 22 19950164 [A/G] NM_000754,NM_001135161,NM_001135162,NM_007310 COMT,COMT,COMT,COMT EXON Missense_N39D,Missense_N39D,Missense_N39D,Silent exm1585879 22 19950263 [T/G] NM_000754,NM_001135161,NM_001135162,NM_007310 COMT,COMT,COMT,COMT EXON Missense_A72S,Missense_A72S,Missense_A72S,Missense_A22S exm1585883 22 19950299 [A/G] NM_000754,NM_001135161,NM_001135162,NM_007310 COMT,COMT,COMT,COMT EXON Missense_E84K,Missense_E84K,Missense_E84K,Missense_E34K exm1999583 22 19950329 [A/G] NM_000754,NM_001135161,NM_001135162,NM_007310 COMT,COMT,COMT,COMT EXON Missense_D94N,Missense_D94N,Missense_D94N,Missense_D44N exm1585888 22 19951117 [C/G] NM_000754,NM_001135161,NM_001135162,NM_007310 COMT,COMT,COMT,COMT EXON Missense_E106D,Missense_E106D,Missense_E106D,Missense_E56D exm1999586 22 19951119 [A/G] NM_000754,NM_001135161,NM_001135162,NM_007310 COMT,COMT,COMT,COMT EXON Missense_H107R,Missense_H107R,Missense_H107R,Missense_H57R exm1585896 22 19951220 [A/G] NM_000754,NM_001135161,NM_001135162,NM_007310 COMT,COMT,COMT,COMT EXON Missense_I141V,Missense_I141V,Missense_I141V,Missense_I91V exm1585902 22 19951271 [A/G] NM_000754,NM_001135161,NM_001135162,NM_007310 COMT,COMT,COMT,COMT EXON Missense_V158M,Missense_V158M,Missense_V158M,Missense_V108M exm1585912 22 19951803 [T/C] NM_000754,NM_001135161,NM_001135162,NM_007310 COMT,COMT,COMT,COMT EXON Missense_P199L,Missense_P199L,Missense_P199L,Missense_P149L exm1585927 22 19956143 [T/C] NM_000754,NM_001135161,NM_001135162,NM_007310 COMT,COMT,COMT,COMT EXON Missense_R234C,Missense_R234C,Missense_R234C,Missense_R184C exm1585939 22 19958768 [T/C] NM_001670 ARVCF EXON Missense_V958I exm1585942 22 19958789 [T/C] NM_001670 ARVCF EXON Missense_G951R exm1585953 22 19959450 [T/C] NM_001670 ARVCF EXON Missense_A914T exm1585954 22 19959456 [A/G] NM_001670 ARVCF EXON Missense_R912W exm1585955 22 19959464 [T/C] NM_001670 ARVCF EXON Missense_R909Q exm1585957 22 19959473 [T/C] NM_001670 ARVCF EXON Missense_R906Q exm1999609 22 19959880 [T/C] NM_001670 ARVCF Silent exm1585960 22 19959913 [T/C] NM_001670 ARVCF EXON Missense_R888Q exm1585961 22 19959915 [G/C] NM_001670 ARVCF EXON Missense_S887R exm1585963 22 19960286 [T/G] NM_001670 ARVCF EXON Missense_T872K exm1999613 22 19960326 [A/G] NM_001670 ARVCF EXON Missense_P859S exm1585978 22 19960512 [A/G] NM_001670 ARVCF EXON Missense_V829A exm1585981 22 19960533 [A/G] NM_001670 ARVCF EXON Missense_A822V exm1585982 22 19960536 [A/G] NM_001670 ARVCF EXON Missense_A821V exm1585985 22 19960666 [A/G] NM_001670 ARVCF EXON Missense_A805V exm1586009 22 19961673 [T/C] NM_001670 ARVCF EXON Missense_A684T exm1586010 22 19961692 [G/C] NM_001670 ARVCF EXON Missense_F677L exm1586012 22 19961730 [A/G] NM_001670 ARVCF EXON Missense_R665C exm1999632 22 19963271 [T/G] NM_001670 ARVCF EXON Missense_D633A exm1586018 22 19963276 [G/C] NM_001670 ARVCF EXON Missense_K631N exm1586022 22 19964976 [T/C] NM_001670 ARVCF EXON Missense_R611Q exm1586026 22 19964986 [A/G] NM_001670 ARVCF EXON Missense_R608C exm2276749 22 19965501 [A/G] NM_001670 ARVCF EXON Missense_R560W exm1586036 22 19965512 [A/G] NM_001670 ARVCF EXON Missense_S556L exm1586040 22 19965557 [T/C] NM_001670 ARVCF EXON Missense_R541Q exm1586041 22 19965563 [T/C] NM_001670 ARVCF EXON Missense_R539Q exm1586049 22 19966448 [T/C] NM_001670 ARVCF EXON Missense_V518I exm1586057 22 19966549 [T/C] NM_001670 ARVCF EXON Missense_H484R exm1586059 22 19966562 [T/C] NM_001670 ARVCF EXON Missense_V480I exm1586060 22 19966579 [T/G] NM_001670 ARVCF EXON Missense_Y474S exm1586108 22 19968932 [T/C] NM_001670 ARVCF EXON Missense_R233Q exm1586109 22 19968933 [A/G] NM_001670 ARVCF EXON Missense_R233W exm1586111 22 19968971 [A/G] NM_001670 ARVCF EXON Missense_P220L exm1586114 22 19969043 [T/C] NM_001670 ARVCF EXON Missense_R196Q exm1586120 22 19969106 [A/G] NM_001670 ARVCF EXON Missense_V175A exm1586122 22 19969182 [T/C] NM_001670 ARVCF EXON Missense_D150N exm1586141 22 19978190 [T/C] NM_001670 ARVCF EXON Missense_R43H exm1586142 22 19978218 [A/G] NM_001670 ARVCF EXON Missense_R34W exm1999674 22 19978335 [A/G] NM_001670 ARVCF EXON Silent exm1586158 22 20024370 [A/G] NM_152906 TANGO2 EXON Missense_A17T exm1586187 22 20043504 [A/G] NM_152906 TANGO2 EXON Missense_R140Q exm1586188 22 20043521 [A/G] NM_152906 TANGO2 EXON Missense_I146V exm1586213 22 20050883 [A/G] NM_152906 TANGO2 EXON Missense_E210K exm1586214 22 20050886 [G/C] NM_152906 TANGO2 EXON Missense_D211H exm1999794 22 20050940 [A/G] NM_152906 TANGO2 EXON Missense_V229M exm1586223 22 20052089 [T/G] NM_152906 TANGO2 EXON Missense_D245E exm1586231 22 20073518 [T/C] NM_001190326,NM_022720 DGCR8,DGCR8 EXON Missense_P11L,Missense_P11L exm1586234 22 20073529 [A/G] NM_001190326,NM_022720 DGCR8,DGCR8 EXON Missense_A15T,Missense_A15T exm1586247 22 20073742 [A/C] NM_001190326,NM_022720 DGCR8,DGCR8 EXON Missense_L86I,Missense_L86I exm1586258 22 20073919 [T/C] NM_001190326,NM_022720 DGCR8,DGCR8 EXON Missense_R145W,Missense_R145W exm1586262 22 20073937 [T/C] NM_001190326,NM_022720 DGCR8,DGCR8 EXON Missense_L151F,Missense_L151F exm1586265 22 20074006 [A/G] NM_001190326,NM_022720 DGCR8,DGCR8 EXON Missense_I174V,Missense_I174V exm1586286 22 20077523 [A/G] NM_001190326,NM_022720 DGCR8,DGCR8 EXON Missense_I350V,Missense_I350V exm1586288 22 20077566 [A/G] NM_001190326,NM_022720 DGCR8,DGCR8 EXON Missense_R364Q,Missense_R364Q exm1586289 22 20077575 [A/G] NM_001190326,NM_022720 DGCR8,DGCR8 EXON Missense_S367N,Missense_S367N exm1586307 22 20079084 [C/G] NM_001190326,NM_022720 DGCR8,DGCR8 EXON Missense_S478C,Missense_S478C exm1586316 22 20082293 [A/G] NM_001190326,NM_022720 DGCR8,DGCR8 EXON Missense_K555R,Missense_K588R exm1586332 22 20097585 [T/C] NM_001190326,NM_022720 DGCR8,DGCR8 EXON Missense_A726V,Missense_A759V exm1586334 22 20097602 [A/G] NM_001190326,NM_022720 DGCR8,DGCR8 EXON Missense_G732S,Missense_G765S exm1586371 22 20100666 [A/G] NM_001257994,NM_182984,NM_022727 TRMT2A,TRMT2A,TRMT2A EXON Synonymous_I508I,Synonymous_I508I,Synonymous_I508I exm1586372 22 20100674 [T/C] NM_001257994,NM_182984,NM_022727 TRMT2A,TRMT2A,TRMT2A EXON Missense_V506M,Missense_V506M,Missense_V506M exm2000011 22 20100697 [T/C] NM_001257994,NM_182984,NM_022727 TRMT2A,TRMT2A,TRMT2A EXON Missense_S498N,Missense_S498N,Missense_S498N exm1586378 22 20100722 [T/C] NM_001257994,NM_182984,NM_022727 TRMT2A,TRMT2A,TRMT2A EXON Missense_E490K,Missense_E490K,Missense_E490K exm1586386 22 20100981 [T/C] NM_001257994,NM_182984,NM_022727 TRMT2A,TRMT2A,TRMT2A EXON Missense_D469G,Missense_D469G,Missense_D469G exm1586395 22 20101289 [T/C] NM_001257994,NM_182984,NM_022727 TRMT2A,TRMT2A,TRMT2A EXON Missense_D426N,Missense_D426N,Missense_D426N exm1586409 22 20102537 [T/C] NM_001257994,NM_182984,NM_022727 TRMT2A,TRMT2A,TRMT2A EXON Missense_R319H,Missense_R319H,Missense_R319H exm1586415 22 20102789 [T/C] NM_001257994,NM_182984,NM_022727 TRMT2A,TRMT2A,TRMT2A EXON Missense_R297Q,Missense_R297Q,Missense_R297Q exm1586419 22 20102855 [A/G] NM_001257994,NM_182984,NM_022727 TRMT2A,TRMT2A,TRMT2A EXON Missense_P275L,Missense_P275L,Missense_P275L exm1586433 22 20103253 [T/C] NM_001257994,NM_182984,NM_022727 TRMT2A,TRMT2A,TRMT2A EXON Missense_R217K,Missense_R217K,Missense_R217K exm1586435 22 20103263 [T/G] NM_001257994,NM_182984,NM_022727 TRMT2A,TRMT2A,TRMT2A EXON Missense_L214I,Missense_L214I,Missense_L214I exm1586446 22 20103645 [A/G] NM_001257994,NM_182984,NM_022727 TRMT2A,TRMT2A,TRMT2A EXON Missense_V172A,Missense_V172A,Missense_V172A exm2000067 22 20103736 [A/G] NM_001257994,NM_182984,NM_022727 TRMT2A,TRMT2A,TRMT2A EXON Missense_R142C,Missense_R142C,Missense_R142C exm1586460 22 20103876 [T/C] NM_001257994,NM_182984,NM_022727 TRMT2A,TRMT2A,TRMT2A EXON Missense_R95H,Missense_R95H,Missense_R95H exm2000070 22 20103915 [T/C] NM_001257994,NM_182984,NM_022727 TRMT2A,TRMT2A,TRMT2A EXON Missense_R82H,Missense_R82H,Missense_R82H exm1586472 22 20104101 [T/C] NM_001257994,NM_182984,NM_022727 TRMT2A,TRMT2A,TRMT2A EXON Missense_S20N,Missense_S20N,Missense_S20N exm2000120 22 20112840 [T/C] NM_002882 RANBP1 EXON Missense_M107T exm1586518 22 20127002 [A/G] NM_013373,NM_001185024 ZDHHC8,ZDHHC8 EXON Synonymous_A76A,Synonymous_A76A exm2268401 22 20127554 [A/G] NM_013373,NM_001185024 ZDHHC8,ZDHHC8 Silent,Silent exm1586540 22 20127718 [A/G] NM_013373,NM_001185024 ZDHHC8,ZDHHC8 EXON Missense_R213Q,Missense_R213Q exm1586547 22 20128225 [T/C] NM_013373,NM_001185024 ZDHHC8,ZDHHC8 EXON Missense_A249V,Missense_A249V exm1586550 22 20128402 [T/C] NM_013373,NM_001185024 ZDHHC8,ZDHHC8 EXON Missense_V254A,Missense_V254A exm1586571 22 20130321 [T/C] NM_013373,NM_001185024 ZDHHC8,ZDHHC8 EXON Missense_R390C,Missense_R390C exm1586577 22 20130474 [T/C] NM_013373,NM_001185024 ZDHHC8,ZDHHC8 EXON Missense_R441W,Missense_R441W exm1586583 22 20130570 [T/C] NM_013373,NM_001185024 ZDHHC8,ZDHHC8 EXON Missense_R473C,Missense_R473C exm1586611 22 20130955 [T/C] NM_013373,NM_001185024 ZDHHC8,ZDHHC8 EXON Missense_A601V,Missense_A601V exm1586635 22 20131213 [A/G] NM_013373,NM_001185024 ZDHHC8,ZDHHC8 EXON Missense_G687D,Missense_G687D exm1586646 22 20132858 [A/G] NM_013373,NM_001185024 ZDHHC8,ZDHHC8 EXON Missense_T745A,Silent exm2235296 22 20229332 [G/C] NM_023004 RTN4R EXON Missense_G442R exm1586745 22 20230067 [T/C] NM_023004 RTN4R EXON Missense_A197T exm1586746 22 20230069 [T/C] NM_023004 RTN4R EXON Missense_R196H exm1586762 22 20230264 [T/C] NM_023004 RTN4R EXON Missense_R131H exm1586766 22 20230301 [A/G] NM_023004 RTN4R EXON Missense_R119W exm2273051 22 20260814 [T/G] exm1586818 22 20302992 [T/C] NM_033257 DGCR6L EXON Missense_E127G exm2000832 22 20748934 [T/C] NM_001256523,NM_001256525,NM_001256524,NM_003426,NR_046282 ZNF74,ZNF74,ZNF74,ZNF74,ZNF74 EXON Missense_P6S,Silent,Missense_P6S,Missense_P6S,Silent exm1586925 22 20749694 [A/G] NM_001256523,NM_001256525,NM_001256524,NM_003426,NR_046282 ZNF74,ZNF74,ZNF74,ZNF74,ZNF74 EXON Silent,Silent,Missense_E36K,Missense_E36K,Silent exm1586931 22 20755047 [A/G] NM_001256523,NM_001256525,NM_001256524,NM_003426,NR_046282 ZNF74,ZNF74,ZNF74,ZNF74,ZNF74 EXON Missense_R54G,Synonymous_L11L,Synonymous_L82L,Synonymous_L82L,Silent exm1586937 22 20755631 [A/G] NM_001256523,NM_001256525,NM_001256524,NM_003426,NR_046282 ZNF74,ZNF74,ZNF74,ZNF74,ZNF74 EXON Missense_A76T,Missense_M33I,Missense_M104I,Missense_M104I,Silent exm1586939 22 20759672 [A/G] NM_001256523,NM_001256525,NM_001256524,NM_003426,NR_046282 ZNF74,ZNF74,ZNF74,ZNF74,ZNF74 EXON Missense_G88E,Missense_E46K,Missense_E117K,Missense_E117K,Silent exm1586947 22 20759825 [A/C] NM_001256523,NM_001256525,NM_001256524,NM_003426,NR_046282 ZNF74,ZNF74,ZNF74,ZNF74,ZNF74 EXON Missense_T139N,Missense_P97T,Missense_P168T,Missense_P168T,Silent exm1586953 22 20759967 [T/C] NM_001256523,NM_001256525,NM_001256524,NM_003426,NR_046282 ZNF74,ZNF74,ZNF74,ZNF74,ZNF74 EXON Silent,Missense_A144V,Missense_A215V,Missense_A215V,Silent exm1586965 22 20760221 [A/G] NM_001256523,NM_001256525,NM_001256524,NM_003426,NR_046282 ZNF74,ZNF74,ZNF74,ZNF74,ZNF74 EXON Silent,Missense_G229S,Missense_G300S,Missense_G300S,Silent exm1586971 22 20760319 [G/C] NM_001256523,NM_001256525,NM_001256524,NM_003426,NR_046282 ZNF74,ZNF74,ZNF74,ZNF74,ZNF74 EXON Silent,Nonsense_Y261X,Nonsense_Y332X,Nonsense_Y332X,Silent exm1586981 22 20760515 [A/C] NM_001256523,NM_001256525,NM_001256524,NM_003426,NR_046282 ZNF74,ZNF74,ZNF74,ZNF74,ZNF74 EXON Silent,Missense_T327P,Missense_T398P,Missense_T398P,Silent exm1586982 22 20760516 [A/C] NM_001256523,NM_001256525,NM_001256524,NM_003426,NR_046282 ZNF74,ZNF74,ZNF74,ZNF74,ZNF74 EXON Silent,Missense_T327N,Missense_T398N,Missense_T398N,Silent exm1586995 22 20760691 [C/G] NM_001256523,NM_001256525,NM_001256524,NM_003426,NR_046282 ZNF74,ZNF74,ZNF74,ZNF74,ZNF74 EXON Silent,Missense_H385Q,Missense_H456Q,Missense_H456Q,Silent exm1587000 22 20760795 [A/G] NM_001256523,NM_001256525,NM_001256524,NM_003426,NR_046282 ZNF74,ZNF74,ZNF74,ZNF74,ZNF74 EXON Silent,Missense_R420Q,Missense_R491Q,Missense_R491Q,Silent exm1587006 22 20760977 [A/G] NM_001256523,NM_001256525,NM_001256524,NM_003426,NR_046282 ZNF74,ZNF74,ZNF74,ZNF74,ZNF74 EXON Silent,Missense_G481R,Missense_G552R,Missense_G552R,Silent exm1587007 22 20760991 [T/G] NM_001256523,NM_001256525,NM_001256524,NM_003426,NR_046282 ZNF74,ZNF74,ZNF74,ZNF74,ZNF74 EXON Silent,Missense_F485L,Missense_F556L,Missense_F556L,Silent exm1587009 22 20761028 [T/C] NM_001256523,NM_001256525,NM_001256524,NM_003426,NR_046282 ZNF74,ZNF74,ZNF74,ZNF74,ZNF74 EXON Silent,Missense_S498P,Missense_S569P,Missense_S569P,Silent exm2275182 22 20761033 [A/C] NM_001256523,NM_001256525,NM_001256524,NM_003426,NR_046282 ZNF74,ZNF74,ZNF74,ZNF74,ZNF74 EXON Silent,Missense_H499Q,Missense_H570Q,Missense_H570Q,Silent exm1587017 22 20761112 [T/A] NM_001256523,NM_001256525,NM_001256524,NM_003426,NR_046282 ZNF74,ZNF74,ZNF74,ZNF74,ZNF74 EXON Silent,Missense_Y526N,Missense_Y597N,Missense_Y597N,Silent exm1587022 22 20761193 [T/C] NM_001256523,NM_001256525,NM_001256524,NM_003426,NR_046282 ZNF74,ZNF74,ZNF74,ZNF74,ZNF74 EXON Silent,Missense_L553F,Missense_L624F,Missense_L624F,Silent exm1587066 22 20780296 [A/G] NM_153334,NM_182895 SCARF2,SCARF2 EXON Missense_P661L,Missense_P656L exm1587077 22 20781732 [A/G] NM_153334,NM_182895 SCARF2,SCARF2 EXON Missense_S554L,Missense_S549L exm1587090 22 20784050 [T/A] NM_153334,NM_182895 SCARF2,SCARF2 EXON Missense_T425S,Missense_T425S exm1587095 22 20784784 [C/G] NM_153334,NM_182895 SCARF2,SCARF2 EXON Missense_D378E,Missense_D378E exm2275261 22 20786033 [A/G] NM_153334,NM_182895 SCARF2,SCARF2 EXON Synonymous_T111T,Synonymous_T111T exm2000877 22 20786125 [T/C] NM_153334,NM_182895 SCARF2,SCARF2 EXON Missense_E81K,Missense_E81K exm2273019 22 20789074 [T/C] NM_153334,NM_182895 SCARF2,SCARF2 Silent,Silent exm1587140 22 20800824 [T/C] NR_033825,NM_032775 KLHL22,KLHL22 EXON Silent,Missense_R482Q exm1587143 22 20800848 [T/C] NR_033825,NM_032775 KLHL22,KLHL22 EXON Silent,Missense_H474R exm1587149 22 20800941 [A/G] NR_033825,NM_032775 KLHL22,KLHL22 EXON Silent,Missense_T443M exm2000891 22 20819692 [A/G] NR_033825,NM_032775 KLHL22,KLHL22 EXON Silent,Missense_R189C exm1587192 22 20843315 [C/G] NR_033825,NM_032775 KLHL22,KLHL22 EXON Silent,Missense_E62Q exm1587217 22 20909246 [G/C] NM_001003891,NM_015889 MED15,MED15 EXON Missense_L88V,Missense_L88V exm1587219 22 20909285 [T/A] NM_001003891,NM_015889 MED15,MED15 EXON Missense_M101L,Missense_M101L exm2235306 22 20909315 [T/G] NM_001003891,NM_015889 MED15,MED15 EXON Missense_G111C,Missense_G111C exm2000921 22 20922898 [A/C] NM_001003891,NM_015889 MED15,MED15 EXON Missense_M378L,Missense_M378L exm1587272 22 20937201 [T/C] NM_001003891,NM_015889 MED15,MED15 EXON Missense_A495V,Missense_A455V exm1587316 22 20940856 [T/C] NM_001003891,NM_015889 MED15,MED15 EXON Synonymous_D744D,Synonymous_D704D exm1587317 22 20940857 [A/G] NM_001003891,NM_015889 MED15,MED15 EXON Missense_A745T,Missense_A705T exm2268402 22 21024880 [A/G] exm1587431 22 21073040 [C/G] NM_002650,NM_058004 PI4KA,PI4KA EXON Missense_D481E,Missense_D1729E exm2276802 22 21075586 [A/G] NM_002650,NM_058004 PI4KA,PI4KA EXON Missense_P458S,Missense_P1706S exm1587473 22 21083617 [T/C] NM_002650,NM_058004 PI4KA,PI4KA EXON Missense_V308M,Missense_V1556M exm1587479 22 21083728 [C/G] NM_002650,NM_058004 PI4KA,PI4KA EXON Missense_Q271E,Missense_Q1519E exm1587522 22 21097036 [T/C] NM_058004 PI4KA EXON Missense_R1158Q exm2235320 22 21098989 [T/C] NM_058004 PI4KA EXON Missense_R1128H exm1587530 22 21101959 [A/G] NM_058004 PI4KA EXON Missense_S1092L exm1587555 22 21107414 [T/C] NM_058004 PI4KA EXON Missense_N949S exm1587565 22 21119148 [T/C] NM_058004 PI4KA EXON Missense_M889V exm1587578 22 21133619 [A/G] NM_058004,NM_000185 PI4KA,SERPIND1 EXON Silent,Missense_A7T exm1587581 22 21133685 [A/G] NM_058004,NM_000185 PI4KA,SERPIND1 EXON Silent,Missense_E29K exm1587582 22 21133692 [A/G] NM_058004,NM_000185 PI4KA,SERPIND1 EXON Silent,Missense_G31E exm1587592 22 21133793 [A/G] NM_058004,NM_000185 PI4KA,SERPIND1 EXON Silent,Missense_V65I exm1587595 22 21133831 [A/C] NM_058004,NM_000185 PI4KA,SERPIND1 EXON Silent,Missense_D77E exm1587596 22 21133860 [A/G] NM_058004,NM_000185 PI4KA,SERPIND1 EXON Silent,Missense_S87N exm1587599 22 21133886 [A/G] NM_058004,NM_000185 PI4KA,SERPIND1 EXON Silent,Missense_V96I exm1587607 22 21134007 [A/T] NM_058004,NM_000185 PI4KA,SERPIND1 EXON Silent,Missense_N136I exm1587612 22 21134067 [T/C] NM_058004,NM_000185 PI4KA,SERPIND1 EXON Silent,Missense_V156A exm1587621 22 21134223 [A/G] NM_058004,NM_000185 PI4KA,SERPIND1 EXON Silent,Missense_R208H exm1587622 22 21134349 [T/C] NM_058004,NM_000185 PI4KA,SERPIND1 EXON Silent,Missense_I250T exm1587626 22 21134442 [T/C] NM_058004,NM_000185 PI4KA,SERPIND1 EXON Silent,Missense_I281T exm2235321 22 21134448 [G/C] NM_058004,NM_000185 PI4KA,SERPIND1 EXON Silent,Missense_P283R exm1587636 22 21138428 [A/T] NM_058004,NM_000185 PI4KA,SERPIND1 EXON Silent,Missense_I353N exm1587654 22 21141187 [G/C] NM_058004,NM_000185 PI4KA,SERPIND1 EXON Silent,Missense_V445L exm1587693 22 21153533 [A/G] NM_058004 PI4KA EXON Nonsense_R618X exm1587732 22 21159447 [A/G] NM_058004 PI4KA EXON Missense_P392L exm1587739 22 21165311 [T/C] NM_058004 PI4KA EXON Missense_I339V exm1587742 22 21167667 [T/C] NM_058004 PI4KA EXON Missense_M328I exm2001090 22 21174855 [A/C] NM_058004 PI4KA EXON Missense_M167I exm1587796 22 21213449 [C/G] NM_004782 SNAP29 EXON Missense_D17E exm1587801 22 21213511 [T/C] NM_004782 SNAP29 EXON Missense_P38L exm1587822 22 21235389 [A/G] NM_004782 SNAP29 EXON Missense_S163G exm1587829 22 21241976 [T/C] NM_004782 SNAP29 EXON Missense_S210F exm1587831 22 21242054 [A/G] NM_004782 SNAP29 EXON Missense_R236Q exm1587837 22 21242113 [T/C] NM_004782 SNAP29 EXON Nonsense_R256X exm2001126 22 21288083 [A/G] NM_005207 CRKL EXON Missense_M110V exm1587872 22 21288416 [A/G] NM_005207 CRKL EXON Missense_G221S exm2273588 22 21306743 [A/G] NM_005207 CRKL EXON Silent exm1587888 22 21327589 [T/C] NM_001018060,NM_144704,NR_027464,NM_001146288 AIFM3,AIFM3,AIFM3,AIFM3 EXON Silent,Silent,Silent,Missense_P15S exm1587910 22 21328568 [A/G] NM_001018060,NM_144704,NR_027464,NM_001146288 AIFM3,AIFM3,AIFM3,AIFM3 EXON Missense_V165I,Missense_V165I,Silent,Missense_V171I exm1587911 22 21328572 [A/G] NM_001018060,NM_144704,NR_027464,NM_001146288 AIFM3,AIFM3,AIFM3,AIFM3 EXON Missense_R166Q,Missense_R166Q,Silent,Missense_R172Q exm1587913 22 21328829 [T/C] NM_001018060,NM_144704,NR_027464,NM_001146288 AIFM3,AIFM3,AIFM3,AIFM3 EXON Nonsense_R176X,Nonsense_R176X,Silent,Nonsense_R182X exm1587915 22 21328899 [T/C] NM_001018060,NM_144704,NR_027464,NM_001146288 AIFM3,AIFM3,AIFM3,AIFM3 EXON Missense_I199T,Missense_I199T,Silent,Missense_I205T exm1587920 22 21329025 [T/C] NM_001018060,NM_144704,NR_027464,NM_001146288 AIFM3,AIFM3,AIFM3,AIFM3 EXON Missense_R214W,Missense_R214W,Silent,Missense_R220W exm1587924 22 21329070 [T/C] NM_001018060,NM_144704,NR_027464,NM_001146288 AIFM3,AIFM3,AIFM3,AIFM3 EXON Missense_R229W,Missense_R229W,Silent,Missense_R235W exm1587932 22 21330032 [T/C] NM_001018060,NM_144704,NR_027464,NM_001146288 AIFM3,AIFM3,AIFM3,AIFM3 EXON Nonsense_R258X,Nonsense_R258X,Silent,Nonsense_R264X exm1587940 22 21330750 [A/G] NM_001018060,NM_144704,NR_027464,NM_001146288 AIFM3,AIFM3,AIFM3,AIFM3 EXON Missense_R318Q,Missense_R318Q,Silent,Missense_R324Q exm1587944 22 21330788 [T/C] NM_001018060,NM_144704,NR_027464,NM_001146288 AIFM3,AIFM3,AIFM3,AIFM3 EXON Nonsense_R331X,Nonsense_R331X,Silent,Nonsense_R337X exm1587948 22 21330806 [A/G] NM_001018060,NM_144704,NR_027464,NM_001146288 AIFM3,AIFM3,AIFM3,AIFM3 EXON Missense_V337I,Missense_V337I,Silent,Missense_V343I exm1587950 22 21330818 [A/G] NM_001018060,NM_144704,NR_027464,NM_001146288 AIFM3,AIFM3,AIFM3,AIFM3 EXON Missense_G341S,Missense_G341S,Silent,Missense_G347S exm1587958 22 21331032 [T/C] NM_001018060,NM_144704,NR_027464,NM_001146288 AIFM3,AIFM3,AIFM3,AIFM3 EXON Missense_R375C,Missense_R375C,Silent,Missense_R381C exm1587961 22 21331171 [T/C] NM_001018060,NM_144704,NR_027464,NM_001146288 AIFM3,AIFM3,AIFM3,AIFM3 EXON Missense_R388W,Missense_R388W,Silent,Missense_R394W exm1587964 22 21331187 [T/G] NM_001018060,NM_144704,NR_027464,NM_001146288 AIFM3,AIFM3,AIFM3,AIFM3 EXON Missense_M393R,Missense_M393R,Silent,Missense_M399R exm1587966 22 21331324 [A/G] NM_001018060,NM_144704,NR_027464,NM_001146288 AIFM3,AIFM3,AIFM3,AIFM3 EXON Missense_K408E,Missense_K408E,Silent,Missense_K414E exm1587982 22 21332030 [A/G] NM_001018060,NM_144704,NR_027464,NM_001146288 AIFM3,AIFM3,AIFM3,AIFM3 EXON Missense_G442S,Missense_G442S,Silent,Missense_G448S exm1587983 22 21332187 [C/G] NM_001018060,NM_144704,NR_027464,NM_001146288 AIFM3,AIFM3,AIFM3,AIFM3 EXON Missense_T457S,Missense_T457S,Silent,Missense_T463S exm1587984 22 21332252 [T/C] NM_001018060,NM_144704,NR_027464,NM_001146288 AIFM3,AIFM3,AIFM3,AIFM3 EXON Missense_R479C,Missense_R479C,Silent,Missense_R485C exm1587986 22 21332296 [T/C] NM_001018060,NM_144704,NR_027464,NM_001146288 AIFM3,AIFM3,AIFM3,AIFM3 Silent,Silent,Silent,Silent exm1587989 22 21333605 [C/G] NM_001018060,NM_144704,NR_027464,NM_001146288 AIFM3,AIFM3,AIFM3,AIFM3 EXON Missense_S508T,Missense_S508T,Silent,Missense_S514T exm1587992 22 21333628 [A/G] NM_001018060,NM_144704,NR_027464,NM_001146288 AIFM3,AIFM3,AIFM3,AIFM3 EXON Missense_A516T,Missense_A516T,Silent,Missense_A522T exm1588004 22 21334389 [A/G] NM_001018060,NM_144704,NR_027464,NM_001146288 AIFM3,AIFM3,AIFM3,AIFM3 EXON Missense_R578H,Missense_R578H,Silent,Missense_R584H exm1588046 22 21342308 [A/C] NM_006767 LZTR1 EXON Missense_T137N exm1588048 22 21342321 [T/G] NM_006767 LZTR1 EXON Nonsense_Y141X exm2255012 22 21342351 [T/C] NM_006767 LZTR1 EXON Synonymous_D151D exm1588050 22 21342351 [T/C] NM_006767 LZTR1 EXON Synonymous_D151D exm1588052 22 21342386 [T/C] NM_006767 LZTR1 EXON Missense_T163M exm1588060 22 21343955 [T/G] NM_006767 LZTR1 EXON Missense_L212R exm2001198 22 21344815 [A/G] NM_006767 LZTR1 Silent exm1588099 22 21347097 [A/G] NM_006767 LZTR1 EXON Synonymous_R388R exm1588152 22 21348954 [A/G] NM_006767 LZTR1 EXON Missense_D575N exm1588162 22 21349277 [T/C] NM_006767 LZTR1 EXON Missense_P635L exm1588174 22 21350082 [A/G] NM_006767 LZTR1 EXON Missense_A664T exm1588254 22 21354503 [T/C] NM_001008695,NM_030573 THAP7,THAP7 EXON Missense_R199Q,Missense_R199Q exm1588259 22 21354595 [A/C] NM_001008695,NM_030573 THAP7,THAP7 EXON Missense_E168D,Missense_E168D exm1588265 22 21354674 [A/G] NM_001008695,NM_030573 THAP7,THAP7 EXON Missense_P142L,Missense_P142L exm1588270 22 21354936 [C/G] NM_001008695,NM_030573 THAP7,THAP7 EXON Missense_R126P,Missense_R126P exm1588273 22 21354970 [C/G] NM_001008695,NM_030573 THAP7,THAP7 EXON Missense_A115P,Missense_A115P exm1588281 22 21355576 [G/C] NM_001008695,NM_030573 THAP7,THAP7 EXON Missense_E69Q,Missense_E69Q exm1588309 22 21369606 [A/G] NM_001159554,NM_005446 P2RX6,P2RX6 EXON Silent,Missense_G48E exm1588316 22 21370244 [A/G] NM_001159554,NM_005446 P2RX6,P2RX6 EXON Missense_A34T,Missense_A60T exm1588337 22 21376969 [T/C] NM_001159554,NM_005446 P2RX6,P2RX6 EXON Missense_P105L,Missense_P131L exm1588341 22 21377031 [T/C] NM_001159554,NM_005446 P2RX6,P2RX6 EXON Missense_H126Y,Missense_H152Y exm1588348 22 21377302 [A/G] NM_001159554,NM_005446 P2RX6,P2RX6 EXON Missense_V153M,Missense_V179M exm1588349 22 21377325 [A/G] NM_001159554,NM_005446 P2RX6,P2RX6 Silent,Silent exm1588351 22 21377412 [T/C] NM_001159554,NM_005446 P2RX6,P2RX6 EXON Missense_P162L,Missense_P188L exm1588354 22 21377624 [T/A] NM_001159554,NM_005446 P2RX6,P2RX6 EXON Missense_Q207H,Missense_Q233H exm1588359 22 21377650 [A/G] NM_001159554,NM_005446 P2RX6,P2RX6 EXON Missense_R216H,Missense_R242H exm1588387 22 21380583 [A/G] NM_001159554,NM_005446 P2RX6,P2RX6 EXON Missense_E339K,Missense_E365K exm1588393 22 21380772 [T/C] NM_001159554,NM_005446 P2RX6,P2RX6 EXON Nonsense_R372X,Nonsense_R398X exm1588398 22 21380823 [A/G] NM_001159554,NM_005446 P2RX6,P2RX6 EXON Missense_A389T,Missense_A415T exm1588400 22 21380895 [A/G] NM_001159554,NM_005446 P2RX6,P2RX6 EXON Missense_G413R,Missense_G439R exm2001295 22 21383420 [T/C] NM_004173 SLC7A4 EXON Missense_G611D exm1588409 22 21383429 [T/A] NM_004173 SLC7A4 EXON Missense_F608Y exm1588413 22 21383489 [T/C] NM_004173 SLC7A4 EXON Missense_R588Q exm2001298 22 21383649 [A/G] NM_004173 SLC7A4 EXON Missense_R570C exm1588432 22 21384206 [T/C] NM_004173 SLC7A4 EXON Missense_S473G exm1588435 22 21384275 [T/C] NM_004173 SLC7A4 EXON Missense_A450T exm1588437 22 21384318 [A/C] NM_004173 SLC7A4 EXON Missense_Q435H exm1588443 22 21384374 [T/A] NM_004173 SLC7A4 EXON Missense_S417T exm1588449 22 21384475 [A/C] NM_004173 SLC7A4 EXON Missense_L383R exm2001303 22 21384490 [A/G] NM_004173 SLC7A4 EXON Missense_T378M exm1588453 22 21384505 [A/G] NM_004173 SLC7A4 EXON Missense_A373V exm1588462 22 21384598 [T/C] NM_004173 SLC7A4 EXON Missense_R342H exm1588466 22 21385191 [T/G] NM_004173 SLC7A4 EXON Missense_A304E exm1588473 22 21385309 [A/G] NM_004173 SLC7A4 EXON Missense_R265W exm1588478 22 21385393 [T/C] NM_004173 SLC7A4 EXON Missense_V237I exm1588481 22 21385420 [T/C] NM_004173 SLC7A4 EXON Missense_G228S exm1588484 22 21385432 [T/C] NM_004173 SLC7A4 EXON Missense_A224T exm1588501 22 21385741 [T/C] NM_004173 SLC7A4 EXON Missense_N121D exm1588507 22 21385819 [A/G] NM_004173 SLC7A4 EXON Missense_R95C exm1588513 22 21385876 [T/C] NM_004173 SLC7A4 EXON Missense_G76S exm1588515 22 21385918 [T/C] NM_004173 SLC7A4 EXON Missense_V62M exm1588517 22 21385954 [T/C] NM_004173 SLC7A4 EXON Missense_M50V exm1588523 22 21386010 [A/G] NM_004173 SLC7A4 EXON Missense_T31M exm1588525 22 21386019 [A/G] NM_004173 SLC7A4 EXON Missense_T28I exm2261181 22 21408430 [T/C] NR_027006 LOC400891 Silent exm1588656 22 21799719 [A/G] NM_015094 HIC2 EXON Missense_V179M exm1588662 22 21799758 [T/C] NM_015094 HIC2 EXON Missense_P192S exm1588669 22 21799831 [A/G] NM_015094 HIC2 EXON Missense_R216Q exm1588672 22 21799890 [A/G] NM_015094 HIC2 EXON Missense_G236R exm1588683 22 21800032 [T/C] NM_015094 HIC2 EXON Missense_A283V exm1588687 22 21800049 [A/G] NM_015094 HIC2 EXON Missense_V289I exm1588695 22 21800227 [C/G] NM_015094 HIC2 EXON Missense_S348C exm1588703 22 21800277 [A/G] NM_015094 HIC2 EXON Missense_E365K exm1588717 22 21800578 [T/C] NM_015094 HIC2 EXON Missense_T465M exm-rs131654 22 21917190 [T/G] NM_001256355 UBE2L3 Silent exm-rs181359 22 21928641 [A/G] NM_001256355,NM_003347,NM_001256356,NR_028436,NR_046082 UBE2L3,UBE2L3,UBE2L3,UBE2L3,UBE2L3 Silent,Silent,Silent,Silent,Silent exm-rs181362 22 21932068 [T/C] NM_001256355,NM_003347,NM_001256356,NR_028436,NR_046082 UBE2L3,UBE2L3,UBE2L3,UBE2L3,UBE2L3 Silent,Silent,Silent,Silent,Silent exm-rs5754217 22 21939675 [T/G] NM_001256355,NM_003347,NM_001256356,NR_028436,NR_046082 UBE2L3,UBE2L3,UBE2L3,UBE2L3,UBE2L3 Silent,Silent,Silent,Silent,Silent exm-rs4821112 22 21964761 [A/G] NM_001256355,NM_003347,NM_001256356,NR_028436,NR_046082 UBE2L3,UBE2L3,UBE2L3,UBE2L3,UBE2L3 Silent,Silent,Silent,Silent,Silent exm1588790 22 21982892 [T/C] NM_001017964 YDJC EXON Missense_A263T exm1588806 22 21983693 [G/C] NM_001017964 YDJC EXON Missense_R110G exm1588812 22 21983989 [A/G] NM_001017964 YDJC EXON Missense_R76C exm1588831 22 21988330 [G/C] NM_152612 CCDC116 EXON Missense_P31R exm1588834 22 21988419 [T/C] NM_152612 CCDC116 EXON Missense_R61C exm1588835 22 21988422 [T/C] NM_152612 CCDC116 EXON Nonsense_R62X exm1588836 22 21988423 [A/G] NM_152612 CCDC116 EXON Missense_R62Q exm1588837 22 21988524 [T/C] NM_152612 CCDC116 EXON Missense_R96C exm1588839 22 21988599 [A/G] NM_152612 CCDC116 EXON Missense_G121R exm1588844 22 21988641 [T/C] NM_152612 CCDC116 EXON Missense_R135W exm1588851 22 21988758 [T/C] NM_152612 CCDC116 EXON Missense_R174W exm1588853 22 21988774 [A/G] NM_152612 CCDC116 EXON Missense_G179D exm1588854 22 21988833 [T/C] NM_152612 CCDC116 EXON Missense_R199W exm1588855 22 21988834 [A/G] NM_152612 CCDC116 EXON Missense_R199Q exm1588862 22 21989092 [T/G] NM_152612 CCDC116 EXON Missense_G247V exm1588863 22 21989106 [A/G] NM_152612 CCDC116 EXON Missense_V252M exm1588866 22 21989142 [A/G] NM_152612 CCDC116 EXON Missense_E264K exm1588867 22 21989154 [T/C] NM_152612 CCDC116 EXON Missense_R268C exm1588868 22 21989155 [A/G] NM_152612 CCDC116 EXON Missense_R268H exm1588870 22 21989179 [A/T] NM_152612 CCDC116 EXON Missense_I276N exm1588871 22 21989215 [T/C] NM_152612 CCDC116 EXON Missense_L288P exm1588872 22 21989230 [T/C] NM_152612 CCDC116 EXON Missense_P293L exm1588874 22 21989236 [A/G] NM_152612 CCDC116 EXON Missense_R295H exm1588876 22 21989248 [A/G] NM_152612 CCDC116 EXON Missense_R299H exm1588878 22 21989274 [T/C] NM_152612 CCDC116 EXON Missense_R308C exm1588883 22 21989325 [T/C] NM_152612 CCDC116 EXON Missense_R325C exm2001380 22 21989346 [A/G] NM_152612 CCDC116 EXON Missense_G332S exm1588885 22 21989397 [G/C] NM_152612 CCDC116 EXON Missense_L349V exm1588888 22 21989490 [T/C] NM_152612 CCDC116 EXON Missense_R380C exm1588891 22 21989555 [C/G] NM_152612 CCDC116 EXON Missense_K401N exm1588893 22 21990752 [A/G] NM_152612 CCDC116 EXON Missense_K412R exm1588898 22 21990823 [A/G] NM_152612 CCDC116 EXON Missense_A436T exm1588900 22 21990826 [A/G] NM_152612 CCDC116 EXON Missense_D437N exm1588912 22 21991072 [T/C] NM_152612 CCDC116 EXON Missense_C519R exm1588914 22 21991120 [A/G] NM_152612 CCDC116 EXON Missense_A535T exm1588918 22 21991147 [T/C] NM_152612 CCDC116 EXON Missense_R544C exm1588919 22 21991151 [C/G] NM_152612 CCDC116 EXON Missense_S545C exm1588927 22 21991243 [G/C] NM_152612 CCDC116 EXON Missense_P576A exm1588937 22 21991357 [T/C] NM_152612 CCDC116 EXON Missense_X614Q exm1588945 22 21996722 [A/G] NM_022044 SDF2L1 EXON Missense_A33T exm1588958 22 21998219 [A/G] NM_022044 SDF2L1 EXON Missense_D141N exm1588962 22 21998280 [A/G] NM_022044 SDF2L1 EXON Missense_R161H exm1588967 22 21998346 [A/G] NM_022044 SDF2L1 EXON Missense_R183H exm1588997 22 22024887 [T/C] NM_148176,NM_014337,NM_148175 PPIL2,PPIL2,PPIL2 EXON Missense_F39L,Missense_F39L,Missense_F39L exm1589005 22 22029362 [A/G] NM_148176,NM_014337,NM_148175 PPIL2,PPIL2,PPIL2 EXON Missense_G85R,Missense_G85R,Missense_G85R exm1589015 22 22036763 [A/G] NM_148176,NM_014337,NM_148175 PPIL2,PPIL2,PPIL2 EXON Missense_R142Q,Missense_R142Q,Missense_R142Q exm1589027 22 22039143 [A/G] NM_148176,NM_014337,NM_148175 PPIL2,PPIL2,PPIL2 EXON Missense_E219K,Missense_E219K,Missense_E219K exm1589033 22 22040836 [T/C] NM_148176,NM_014337,NM_148175 PPIL2,PPIL2,PPIL2 EXON Missense_T260I,Missense_T260I,Missense_T260I exm1589040 22 22042011 [A/G] NM_148176,NM_014337,NM_148175 PPIL2,PPIL2,PPIL2 EXON Missense_R326Q,Missense_R326Q,Missense_R326Q exm1589046 22 22042377 [A/C] NM_148176,NM_014337,NM_148175 PPIL2,PPIL2,PPIL2 EXON Missense_P335T,Missense_P335T,Missense_P335T exm1589053 22 22043113 [C/G] NM_148176,NM_014337,NM_148175 PPIL2,PPIL2,PPIL2 EXON Missense_G372R,Missense_G372R,Missense_G372R exm2255017 22 22048114 [A/G] NM_148176,NM_014337,NM_148175 PPIL2,PPIL2,PPIL2 EXON Synonymous_T383T,Synonymous_T383T,Synonymous_T383T exm1589074 22 22049263 [T/C] NM_148176,NM_014337,NM_148175 PPIL2,PPIL2,PPIL2 EXON Missense_P457L,Missense_P457L,Missense_P457L exm2255018 22 22160301 [T/C] NM_002745,NM_138957 MAPK1,MAPK1 EXON Synonymous_T110T,Synonymous_T110T exm1589138 22 22161964 [T/G] NM_002745,NM_138957 MAPK1,MAPK1 EXON Missense_Q97H,Missense_Q97H exm1589139 22 22161974 [A/G] NM_002745,NM_138957 MAPK1,MAPK1 EXON Missense_T94I,Missense_T94I exm1589140 22 22161975 [T/C] NM_002745,NM_138957 MAPK1,MAPK1 EXON Missense_T94A,Missense_T94A exm1589145 22 22162135 [A/G] NM_002745,NM_138957 MAPK1,MAPK1 EXON Synonymous_C40C,Synonymous_C40C exm2268403 22 22260576 [A/G] exm1589157 22 22277485 [C/G] NM_014634 PPM1F EXON Missense_Q449E exm1589163 22 22277571 [A/C] NM_014634 PPM1F EXON Missense_L420R exm1589168 22 22277637 [T/C] NM_014634 PPM1F EXON Missense_R398Q exm1589172 22 22277667 [T/C] NM_014634 PPM1F EXON Missense_R388H exm1589198 22 22285632 [A/G] NM_014634 PPM1F EXON Missense_A260V exm1589224 22 22288560 [A/G] NM_014634 PPM1F EXON Missense_R132C exm1589226 22 22293938 [G/C] NM_014634 PPM1F EXON Missense_E107D exm1589235 22 22294015 [T/C] NM_014634 PPM1F EXON Missense_E82K exm1589243 22 22300281 [A/G] NM_014634 PPM1F EXON Missense_T47M exm1589250 22 22300377 [T/C] NM_014634 PPM1F EXON Missense_G15E exm1589251 22 22300380 [C/G] NM_014634 PPM1F EXON Missense_S14T exm-rs412050 22 22307519 [G/C] exm1589275 22 22312879 [A/G] NM_003935 TOP3B EXON Nonsense_R698X exm1589286 22 22313598 [T/C] NM_003935 TOP3B EXON Missense_D604G exm1589299 22 22314720 [T/C] NM_003935 TOP3B EXON Missense_V543I exm1589311 22 22316808 [T/A] NM_003935 TOP3B EXON Missense_H506Q exm1589313 22 22316824 [A/G] NM_003935 TOP3B EXON Missense_T501M exm2275184 22 22316863 [A/G] NM_003935 TOP3B EXON Missense_T488M exm1589318 22 22316911 [T/C] NM_003935 TOP3B EXON Missense_R472Q exm1589324 22 22317154 [A/G] NM_003935 TOP3B EXON Missense_L439P exm2001536 22 22317165 [A/C] NM_003935 TOP3B EXON Missense_I435M exm1589337 22 22318354 [T/C] NM_003935 TOP3B EXON Missense_H382R exm1589338 22 22318364 [A/G] NM_003935 TOP3B EXON Missense_R379W exm1589342 22 22318533 [T/C] NM_003935 TOP3B EXON Synonymous_T366T exm1589343 22 22318538 [T/C] NM_003935 TOP3B EXON Missense_D365N exm1589345 22 22318568 [A/G] NM_003935 TOP3B EXON Missense_R355W exm2001542 22 22318595 [C/G] NM_003935 TOP3B EXON Missense_E346Q exm1589351 22 22318660 [A/G] NM_003935 TOP3B EXON Missense_T324M exm1589357 22 22319731 [T/C] NM_003935 TOP3B EXON Missense_R290K exm1589360 22 22322028 [A/G] NM_003935 TOP3B EXON Missense_R267W exm2235347 22 22322030 [T/C] NM_003935 TOP3B EXON Missense_D266G exm1589380 22 22326322 [A/C] NM_003935 TOP3B EXON Missense_V104G exm2261183 22 22438050 [T/G] exm1589760 22 22599238 [C/G] NM_007128 VPREB1 EXON Missense_P5A exm1589771 22 22599424 [A/G] NM_007128 VPREB1 EXON Missense_R38H exm1589775 22 22599537 [A/G] NM_007128 VPREB1 EXON Missense_D76N exm1589777 22 22599549 [A/G] NM_007128 VPREB1 EXON Missense_G80S exm1589782 22 22599607 [T/A] NM_007128 VPREB1 EXON Missense_Y99F exm1589783 22 22599616 [A/T] NM_007128 VPREB1 EXON Missense_I102N exm1589787 22 22599666 [T/G] NM_007128 VPREB1 EXON Missense_A119S exm1589791 22 22599705 [A/G] NM_007128 VPREB1 EXON Missense_E132K exm1590587 22 22843254 [T/C] NM_080764 ZNF280B EXON Missense_S157N exm1590604 22 22868378 [A/G] NM_080740 ZNF280A EXON Missense_T526M exm1590645 22 22869086 [A/G] NM_080740 ZNF280A EXON Missense_P290L exm1590649 22 22869129 [A/G] NM_080740 ZNF280A EXON Missense_L276F exm1590656 22 22869270 [A/G] NM_080740 ZNF280A EXON Missense_P229S exm1590663 22 22869456 [A/G] NM_080740 ZNF280A EXON Nonsense_R167X exm1590667 22 22869477 [T/C] NM_080740 ZNF280A EXON Missense_E160K exm1590671 22 22869528 [T/G] NM_080740 ZNF280A EXON Missense_P143T exm2001777 22 22869626 [A/G] NM_080740 ZNF280A EXON Missense_S110L exm1590688 22 22869810 [G/C] NM_080740 ZNF280A EXON Missense_V49L exm2001786 22 22890642 [A/C] NM_206956,NM_206955,NM_206954,NM_206953,NM_006115 PRAME,PRAME,PRAME,PRAME,PRAME EXON Missense_R459S,Missense_R459S,Missense_R459S,Missense_R459S,Missense_R459S exm1590751 22 22892352 [A/G] NM_206956,NM_206955,NM_206954,NM_206953,NM_006115 PRAME,PRAME,PRAME,PRAME,PRAME EXON Missense_A250V,Missense_A250V,Missense_A250V,Missense_A250V,Missense_A250V exm2001794 22 22892362 [A/G] NM_206956,NM_206955,NM_206954,NM_206953,NM_006115 PRAME,PRAME,PRAME,PRAME,PRAME EXON Missense_P247S,Missense_P247S,Missense_P247S,Missense_P247S,Missense_P247S exm1590868 22 22989304 [T/C] NM_199127 GGTLC2 EXON Missense_T86I exm1592112 22 23237674 [A/G] NM_001256296,NM_001178126 IGLL5,IGLL5 EXON Missense_A74T,Missense_A149T exm-rs463235 22 23278593 [T/C] exm1592281 22 23401668 [A/G] NM_014433 RTDR1 EXON Missense_A340V exm1592283 22 23401696 [T/C] NM_014433 RTDR1 EXON Missense_E331K exm1592287 22 23401750 [T/C] NM_014433 RTDR1 EXON Missense_V313M exm1592292 22 23401770 [T/C] NM_014433 RTDR1 EXON Missense_R306H exm1592297 22 23401822 [A/G] NM_014433 RTDR1 EXON Missense_R289C exm1592300 22 23401884 [A/G] NM_014433 RTDR1 EXON Missense_A268V exm1592304 22 23404020 [T/C] NM_014433 RTDR1 EXON Missense_G253S exm1592307 22 23404038 [T/C] NM_014433 RTDR1 EXON Missense_V247M exm1592311 22 23406099 [A/G] NM_014433 RTDR1 EXON Missense_R212C exm1592321 22 23406182 [A/G] NM_014433 RTDR1 EXON Missense_T184I exm1592327 22 23406302 [T/C] NM_014433 RTDR1 EXON Missense_E144G exm2268404 22 23412017 [A/G] NM_014433 RTDR1 Silent exm1592340 22 23438192 [T/G] NM_014433,NM_002073 RTDR1,GNAZ EXON Silent,Missense_A104S exm1592349 22 23438273 [A/C] NM_014433,NM_002073 RTDR1,GNAZ EXON Silent,Missense_L131I exm1592368 22 23465418 [A/G] NM_014433,NM_002073 RTDR1,GNAZ EXON Silent,Missense_E290K exm1592386 22 23476261 [A/G] NM_014433 RTDR1 EXON Missense_R125W exm1592387 22 23476266 [A/G] NM_014433 RTDR1 EXON Missense_V123A exm1592390 22 23476312 [T/C] NM_014433 RTDR1 EXON Missense_D108N exm1592410 22 23482483 [A/G] NM_014433 RTDR1 EXON Missense_T42M exm1592411 22 23482528 [T/G] NM_014433 RTDR1 EXON Missense_A27D exm2002174 22 23482658 [T/C] NM_014433 RTDR1 EXON Silent exm1592414 22 23487575 [A/G] NM_004914 RAB36 EXON Nonsense_W8X exm1592419 22 23487701 [T/C] NM_004914 RAB36 EXON Missense_P50L exm1592431 22 23488859 [T/C] NM_004914 RAB36 EXON Missense_A85V exm1592434 22 23492257 [T/C] NM_004914 RAB36 EXON Missense_T92M exm1592438 22 23492320 [A/G] NM_004914 RAB36 EXON Missense_R113H exm1592443 22 23492340 [A/G] NM_004914 RAB36 EXON Missense_G120R exm1592449 22 23495247 [G/C] NM_004914 RAB36 EXON Missense_D151E exm1592450 22 23495285 [A/G] NM_004914 RAB36 EXON Missense_R164H exm1592451 22 23495296 [A/G] NM_004914 RAB36 EXON Missense_A168T exm1592465 22 23501407 [T/C] NM_004914 RAB36 EXON Nonsense_Q262X exm1592479 22 23503155 [T/C] NM_004914 RAB36 EXON Missense_R303W exm1592482 22 23503170 [A/G] NM_004914 RAB36 EXON Missense_N308D exm1592489 22 23503707 [A/G] NM_004914 RAB36 EXON Missense_E320K exm2264740 22 23506826 [A/C] exm1592502 22 23523285 [T/G] NM_004327,NM_021574 BCR,BCR EXON Missense_E46D,Missense_E46D exm1592512 22 23523602 [T/C] NM_004327,NM_021574 BCR,BCR EXON Missense_A152V,Missense_A152V exm1592516 22 23523644 [A/G] NM_004327,NM_021574 BCR,BCR EXON Missense_G166D,Missense_G166D exm1592555 22 23524334 [T/C] NM_004327,NM_021574 BCR,BCR EXON Missense_P396L,Missense_P396L exm1592561 22 23524386 [C/G] NM_004327,NM_021574 BCR,BCR EXON Missense_I413M,Missense_I413M exm-rs5751614 22 23593051 [A/G] NM_004327,NM_021574 BCR,BCR Silent,Silent exm1592583 22 23596073 [T/C] NM_004327,NM_021574 BCR,BCR EXON Missense_I456T,Missense_I456T exm1592601 22 23603727 [A/G] NM_004327,NM_021574 BCR,BCR EXON Synonymous_L584L,Synonymous_L584L exm1592609 22 23613735 [A/G] NM_004327,NM_021574 BCR,BCR EXON Missense_S626N,Missense_S626N exm1592637 22 23627238 [A/C] NM_004327,NM_021574 BCR,BCR EXON Missense_D752E,Missense_D752E exm1592662 22 23632538 [T/C] NM_004327,NM_021574 BCR,BCR EXON Missense_P907L,Missense_P907L exm1592663 22 23632547 [A/G] NM_004327,NM_021574 BCR,BCR EXON Missense_Y910C,Missense_Y910C exm1592673 22 23634790 [A/G] NM_004327,NM_021574 BCR,BCR EXON Missense_V949I,Missense_V949I exm1592680 22 23637281 [T/C] NM_004327,NM_021574 BCR,BCR EXON Missense_T984M,Silent exm1592701 22 23653987 [A/G] NM_004327,NM_021574 BCR,BCR EXON Missense_T1096A,Missense_T1052A exm2268434 22 23912723 [A/G] exm1592812 22 23915670 [A/G] NM_020070,NM_152855 IGLL1,IGLL1 EXON Missense_P142L,Silent exm1592847 22 23922281 [T/C] NM_020070,NM_152855 IGLL1,IGLL1 EXON Missense_V33M,Missense_V33M exm-rs140174 22 23922983 [A/G] exm1592854 22 23950955 [A/C] NM_016449 C22orf43 EXON Missense_G229V exm1592859 22 23955509 [C/G] NM_016449 C22orf43 EXON Missense_L218V exm1592861 22 23956322 [A/G] NM_016449 C22orf43 EXON Synonymous_H207H exm1592862 22 23956340 [T/A] NM_016449 C22orf43 EXON Missense_E201D exm1592876 22 23962789 [T/C] NM_016449 C22orf43 EXON Missense_R133H exm1592889 22 23968167 [T/C] NM_016449 C22orf43 Silent exm1592905 22 23974200 [A/G] NM_016449 C22orf43 EXON Missense_I4T exm1592910 22 24034288 [A/G] NR_024448,NM_153615 GUSBP11,RGL4 EXON Silent,Missense_Q24R exm1592912 22 24034304 [G/C] NR_024448,NM_153615 GUSBP11,RGL4 EXON Silent,Missense_E29D exm1592916 22 24034326 [T/C] NR_024448,NM_153615 GUSBP11,RGL4 EXON Silent,Missense_R37C exm1592917 22 24034330 [T/C] NR_024448,NM_153615 GUSBP11,RGL4 EXON Silent,Missense_T38M exm1592919 22 24034353 [T/C] NR_024448,NM_153615 GUSBP11,RGL4 EXON Silent,Missense_Y46H exm1592925 22 24034553 [T/C] NR_024448,NM_153615 GUSBP11,RGL4 EXON Silent,Missense_P71S exm1592932 22 24034611 [A/T] NR_024448,NM_153615 GUSBP11,RGL4 EXON Silent,Missense_L90Q exm1592933 22 24034671 [T/C] NR_024448,NM_153615 GUSBP11,RGL4 EXON Silent,Missense_L110P exm2002432 22 24034706 [A/G] NR_024448,NM_153615 GUSBP11,RGL4 EXON Silent,Missense_K122E exm1592938 22 24034867 [T/C] NR_024448,NM_153615 GUSBP11,RGL4 EXON Silent,Missense_R129C exm1592939 22 24034868 [A/G] NR_024448,NM_153615 GUSBP11,RGL4 EXON Silent,Missense_R129H exm1592943 22 24034948 [A/C] NR_024448,NM_153615 GUSBP11,RGL4 EXON Silent,Missense_P156T exm1592944 22 24034949 [A/C] NR_024448,NM_153615 GUSBP11,RGL4 EXON Silent,Missense_P156Q exm1592945 22 24034969 [G/C] NR_024448,NM_153615 GUSBP11,RGL4 EXON Silent,Missense_G163R exm1592956 22 24035129 [T/C] NR_024448,NM_153615 GUSBP11,RGL4 EXON Silent,Missense_T216M exm1592959 22 24035177 [T/C] NR_024448,NM_153615 GUSBP11,RGL4 EXON Silent,Missense_A232V exm1592961 22 24035962 [T/C] NR_024448,NM_153615 GUSBP11,RGL4 EXON Silent,Missense_V238A exm1592962 22 24035970 [T/C] NR_024448,NM_153615 GUSBP11,RGL4 EXON Silent,Missense_H241Y exm1592965 22 24036000 [C/G] NR_024448,NM_153615 GUSBP11,RGL4 EXON Silent,Missense_G251R exm1592966 22 24036040 [A/G] NR_024448,NM_153615 GUSBP11,RGL4 EXON Silent,Missense_R264H exm1592969 22 24036064 [A/G] NR_024448,NM_153615 GUSBP11,RGL4 EXON Silent,Missense_R272K exm1592973 22 24036138 [A/G] NR_024448,NM_153615 GUSBP11,RGL4 EXON Silent,Missense_E297K exm1592986 22 24037150 [C/G] NR_024448,NM_153615 GUSBP11,RGL4 EXON Silent,Missense_E344Q exm1592988 22 24037178 [T/C] NR_024448,NM_153615 GUSBP11,RGL4 EXON Silent,Missense_T353I exm1592989 22 24037190 [C/G] NR_024448,NM_153615 GUSBP11,RGL4 EXON Silent,Missense_R357T exm1592990 22 24037193 [T/A] NR_024448,NM_153615 GUSBP11,RGL4 EXON Silent,Missense_D358V exm2255034 22 24038809 [T/C] NR_024448,NM_153615 GUSBP11,RGL4 EXON Silent,Synonymous_S365S exm2235369 22 24038817 [T/C] NR_024448,NM_153615 GUSBP11,RGL4 EXON Silent,Missense_V368A exm1593001 22 24038840 [T/C] NR_024448,NM_153615 GUSBP11,RGL4 EXON Silent,Nonsense_Q376X exm1593003 22 24038847 [T/C] NR_024448,NM_153615 GUSBP11,RGL4 EXON Silent,Missense_V378A exm1593009 22 24039410 [T/C] NR_024448,NM_153615 GUSBP11,RGL4 EXON Silent,Missense_S405L exm1593010 22 24039419 [T/C] NR_024448,NM_153615 GUSBP11,RGL4 EXON Silent,Missense_P408L exm1593013 22 24040025 [C/G] NR_024448,NM_153615 GUSBP11,RGL4 EXON Silent,Missense_G413R exm1593018 22 24040462 [T/C] NR_024448,NM_153615 GUSBP11,RGL4 EXON Silent,Missense_P442S exm1593019 22 24040475 [T/C] NR_024448,NM_153615 GUSBP11,RGL4 EXON Silent,Missense_F446S exm1593021 22 24040507 [A/G] NR_024448,NM_153615 GUSBP11,RGL4 EXON Silent,Missense_S457G exm1593028 22 24041056 [T/C] NR_024448,NM_153615 GUSBP11,RGL4 EXON Silent,Missense_P470S exm1593030 22 24041062 [A/G] NR_024448,NM_153615 GUSBP11,RGL4 EXON Silent,Missense_N472D exm1593056 22 24086195 [A/G] NM_021916 ZNF70 EXON Missense_A378V exm1593071 22 24086429 [T/C] NM_021916 ZNF70 EXON Missense_R300Q exm1593072 22 24086438 [T/C] NM_021916 ZNF70 EXON Missense_R297Q exm1593079 22 24086640 [T/C] NM_021916 ZNF70 EXON Missense_G230R exm1593080 22 24086661 [A/G] NM_021916 ZNF70 EXON Missense_P223S exm1593103 22 24086939 [T/G] NM_021916 ZNF70 EXON Missense_P130H exm1593105 22 24087030 [T/C] NM_021916 ZNF70 EXON Missense_D100N exm2002472 22 24087185 [T/C] NM_021916 ZNF70 EXON Missense_Y48C exm1593124 22 24087327 [T/C] NM_021916 ZNF70 EXON Missense_M1V exm1593132 22 24095122 [T/C] NM_013378 VPREB3 EXON Missense_V105M exm1593137 22 24095199 [T/C] NM_013378 VPREB3 EXON Missense_R79Q exm1593142 22 24095221 [A/G] NM_013378 VPREB3 EXON Missense_R72C exm1593143 22 24095256 [T/C] NM_013378 VPREB3 EXON Missense_R60Q exm1593144 22 24095278 [T/C] NM_013378 VPREB3 EXON Missense_G53S exm1593145 22 24095292 [T/G] NM_013378 VPREB3 EXON Missense_T48N exm1593146 22 24095296 [T/C] NM_013378 VPREB3 EXON Missense_V47I exm1593147 22 24095313 [T/G] NM_013378 VPREB3 EXON Missense_T41K exm2002487 22 24095337 [T/C] NM_013378 VPREB3 EXON Missense_G33D exm1593149 22 24095387 [T/C] NM_013378 VPREB3 Silent exm1593154 22 24096541 [A/G] NM_013378 VPREB3 EXON Missense_R4W exm1593158 22 24106336 [T/C] NM_182520 C22orf15 EXON Nonsense_Q30X exm1593159 22 24106448 [A/G] NM_182520 C22orf15 EXON Synonymous_A38A exm1593160 22 24106506 [A/G] NM_182520 C22orf15 EXON Missense_E58K exm1593177 22 24107034 [A/G] NM_182520 C22orf15 EXON Missense_R127H exm1593178 22 24107048 [T/C] NM_182520 C22orf15 EXON Nonsense_R132X exm2235373 22 24107054 [T/C] NM_182520 C22orf15 EXON Missense_R134C exm1593216 22 24121378 [T/C] NM_005940 MMP11 EXON Missense_A38V exm1593239 22 24122587 [A/G] NM_005940 MMP11 EXON Missense_R127Q exm1593250 22 24122785 [A/G] NM_005940 MMP11 EXON Missense_D167N exm1593260 22 24123166 [A/G] NM_005940 MMP11 EXON Missense_S246N exm2255036 22 24123185 [T/C] NM_005940 MMP11 EXON Synonymous_G252G exm1593274 22 24123521 [T/C] NM_005940 MMP11 EXON Missense_R334C exm2255037 22 24125689 [T/C] NM_005940 MMP11 EXON Synonymous_P475P exm1593336 22 24175759 [T/C] NM_001007468,NM_003073 SMARCB1,SMARCB1 EXON Synonymous_S320S,Synonymous_S329S exm1593352 22 24177094 [T/C] NM_001002862,NM_198440,NM_001135751 DERL3,DERL3,DERL3 EXON Silent,Silent,Missense_A214T exm2002546 22 24179872 [T/C] NM_001002862,NM_198440,NM_001135751 DERL3,DERL3,DERL3 EXON Missense_G166D,Missense_G166D,Missense_G166D exm1593372 22 24179922 [G/C] NM_001002862,NM_198440,NM_001135751 DERL3,DERL3,DERL3 EXON Missense_F149L,Missense_F149L,Missense_F149L exm1593374 22 24179956 [A/C] NM_001002862,NM_198440,NM_001135751 DERL3,DERL3,DERL3 EXON Missense_R138L,Missense_R138L,Missense_R138L exm1593376 22 24180005 [A/G] NM_001002862,NM_198440,NM_001135751 DERL3,DERL3,DERL3 EXON Nonsense_Q122X,Nonsense_Q122X,Nonsense_Q122X exm1593379 22 24180540 [A/G] NM_001002862,NM_198440,NM_001135751 DERL3,DERL3,DERL3 EXON Missense_T109I,Missense_T109I,Missense_T109I exm1593384 22 24180568 [T/G] NM_001002862,NM_198440,NM_001135751 DERL3,DERL3,DERL3 EXON Missense_M100L,Missense_M100L,Missense_M100L exm1593385 22 24180578 [T/G] NM_001002862,NM_198440,NM_001135751 DERL3,DERL3,DERL3 EXON Missense_D96E,Missense_D96E,Missense_D96E exm1593387 22 24180585 [T/G] NM_001002862,NM_198440,NM_001135751 DERL3,DERL3,DERL3 EXON Missense_T94K,Missense_T94K,Missense_T94K exm2235379 22 24180588 [C/G] NM_001002862,NM_198440,NM_001135751 DERL3,DERL3,DERL3 EXON Missense_R93P,Missense_R93P,Missense_R93P exm2002552 22 24181162 [T/C] NM_001002862,NM_198440,NM_001135751 DERL3,DERL3,DERL3 EXON Missense_G5R,Missense_G5R,Missense_G5R exm1593406 22 24199704 [T/C] NM_030807,NM_001024938 SLC2A11,SLC2A11 EXON Missense_R10W,Silent exm1593429 22 24210725 [A/G] NM_030807,NM_001024938,NM_001024939 SLC2A11,SLC2A11,SLC2A11 EXON Missense_D67N,Missense_D60N,Missense_D63N exm1593430 22 24210743 [A/G] NM_030807,NM_001024938,NM_001024939 SLC2A11,SLC2A11,SLC2A11 EXON Missense_M73V,Missense_M66V,Missense_M69V exm1593431 22 24210745 [A/G] NM_030807,NM_001024938,NM_001024939 SLC2A11,SLC2A11,SLC2A11 EXON Missense_M73I,Missense_M66I,Missense_M69I exm1593433 22 24210816 [T/C] NM_030807,NM_001024938,NM_001024939 SLC2A11,SLC2A11,SLC2A11 EXON Missense_I97T,Missense_I90T,Missense_I93T exm1593434 22 24210819 [T/C] NM_030807,NM_001024938,NM_001024939 SLC2A11,SLC2A11,SLC2A11 EXON Missense_T98M,Missense_T91M,Missense_T94M exm1593435 22 24210822 [T/G] NM_030807,NM_001024938,NM_001024939 SLC2A11,SLC2A11,SLC2A11 EXON Missense_L99R,Missense_L92R,Missense_L95R exm1593439 22 24217368 [T/C] NM_030807,NM_001024938,NM_001024939 SLC2A11,SLC2A11,SLC2A11 EXON Missense_R123C,Missense_R116C,Missense_R119C exm1593454 22 24219342 [T/C] NM_030807,NM_001024938,NM_001024939 SLC2A11,SLC2A11,SLC2A11 EXON Nonsense_Q181X,Nonsense_Q174X,Nonsense_Q177X exm1593465 22 24220011 [T/C] NM_030807,NM_001024938,NM_001024939 SLC2A11,SLC2A11,SLC2A11 EXON Missense_R221C,Missense_R214C,Missense_R217C exm1593469 22 24220044 [A/G] NM_030807,NM_001024938,NM_001024939 SLC2A11,SLC2A11,SLC2A11 EXON Missense_A232T,Missense_A225T,Missense_A228T exm1593471 22 24220053 [G/C] NM_030807,NM_001024938,NM_001024939 SLC2A11,SLC2A11,SLC2A11 EXON Missense_A235P,Missense_A228P,Missense_A231P exm1593472 22 24224655 [A/G] NM_030807,NM_001024938,NM_001024939 SLC2A11,SLC2A11,SLC2A11 EXON Missense_R239Q,Missense_R232Q,Missense_R235Q exm2002580 22 24224736 [A/G] NM_030807,NM_001024938,NM_001024939 SLC2A11,SLC2A11,SLC2A11 EXON Missense_R266Q,Missense_R259Q,Missense_R262Q exm1593486 22 24224974 [A/G] NM_030807,NM_001024938,NM_001024939 SLC2A11,SLC2A11,SLC2A11 EXON Missense_R308Q,Missense_R301Q,Missense_R304Q exm1593489 22 24225010 [T/C] NM_030807,NM_001024938,NM_001024939 SLC2A11,SLC2A11,SLC2A11 EXON Missense_A320V,Missense_A313V,Missense_A316V exm1593495 22 24225055 [A/G] NM_030807,NM_001024938,NM_001024939 SLC2A11,SLC2A11,SLC2A11 EXON Missense_S335N,Missense_S328N,Missense_S331N exm2002589 22 24226213 [T/C] NM_030807,NM_001024938,NM_001024939 SLC2A11,SLC2A11,SLC2A11 Silent,Silent,Silent exm1593526 22 24226584 [T/A] NM_030807,NM_001024938,NM_001024939 SLC2A11,SLC2A11,SLC2A11 EXON Missense_I427F,Missense_I420F,Missense_I423F exm1593530 22 24226890 [A/G] NM_030807,NM_001024938,NM_001024939 SLC2A11,SLC2A11,SLC2A11 EXON Missense_A456T,Missense_A449T,Missense_A452T exm1593531 22 24226950 [A/G] NM_030807,NM_001024938,NM_001024939 SLC2A11,SLC2A11,SLC2A11 EXON Missense_K476E,Missense_K469E,Missense_K472E exm1593548 22 24237074 [T/C] NR_038911,NM_002415 LOC284889,MIF EXON Silent,Missense_S75F exm2273023 22 24255296 [T/C] exm1593597 22 24313483 [T/C] NM_001084393 DDTL EXON Missense_T98M exm1593599 22 24313506 [A/G] NM_001084393 DDTL EXON Missense_A106T exm1593608 22 24313804 [A/G] NM_001084393,NM_001084392,NM_001355 DDTL,DDT,DDT EXON Silent,Missense_I98T,Missense_I98T exm1593681 22 24381773 [T/C] NM_000853 GSTT1 EXON Missense_D43N exm1593698 22 24432578 [T/G] NM_001201429,NM_012295,NM_001199281 CABIN1,CABIN1,CABIN1 EXON Missense_D15E,Missense_D15E,Missense_D15E exm1593699 22 24434850 [T/C] NM_001201429,NM_012295,NM_001199281 CABIN1,CABIN1,CABIN1 EXON Missense_R51W,Missense_R51W,Missense_R51W exm1593712 22 24437704 [A/G] NM_001201429,NM_012295,NM_001199281 CABIN1,CABIN1,CABIN1 EXON Missense_M110V,Missense_M110V,Missense_M110V exm1593727 22 24447310 [C/G] NM_001201429,NM_012295,NM_001199281 CABIN1,CABIN1,CABIN1 EXON Silent,Missense_S227W,Missense_S227W exm2275185 22 24447387 [T/C] NM_001201429,NM_012295,NM_001199281 CABIN1,CABIN1,CABIN1 EXON Silent,Missense_R253W,Missense_R253W exm1593738 22 24451389 [A/G] NM_001201429,NM_012295,NM_001199281 CABIN1,CABIN1,CABIN1 EXON Missense_C237Y,Missense_C287Y,Missense_C287Y exm1593740 22 24451454 [T/C] NM_001201429,NM_012295,NM_001199281 CABIN1,CABIN1,CABIN1 EXON Missense_P259S,Missense_P309S,Missense_P309S exm2002648 22 24451504 [A/C] NM_001201429,NM_012295,NM_001199281 CABIN1,CABIN1,CABIN1 EXON Missense_S275R,Missense_S325R,Missense_S325R exm1593752 22 24452804 [A/G] NM_001201429,NM_012295,NM_001199281 CABIN1,CABIN1,CABIN1 EXON Missense_M365V,Missense_M415V,Missense_M415V exm1593758 22 24455815 [T/G] NM_001201429,NM_012295,NM_001199281 CABIN1,CABIN1,CABIN1 EXON Missense_F413C,Missense_F463C,Missense_F463C exm1593763 22 24456455 [T/C] NM_001201429,NM_012295,NM_001199281 CABIN1,CABIN1,CABIN1 EXON Missense_R440C,Missense_R490C,Missense_R490C exm1593764 22 24456473 [A/G] NM_001201429,NM_012295,NM_001199281 CABIN1,CABIN1,CABIN1 EXON Missense_G446S,Missense_G496S,Missense_G496S exm2255040 22 24459474 [T/C] NM_001201429,NM_012295,NM_001199281 CABIN1,CABIN1,CABIN1 EXON Synonymous_D533D,Synonymous_D583D,Synonymous_D583D exm1593784 22 24460593 [A/C] NM_001201429,NM_012295,NM_001199281 CABIN1,CABIN1,CABIN1 EXON Missense_R610S,Missense_R660S,Missense_R660S exm1593786 22 24460606 [T/C] NM_001201429,NM_012295,NM_001199281 CABIN1,CABIN1,CABIN1 EXON Missense_R615W,Missense_R665W,Missense_R665W exm1593806 22 24466964 [T/C] NM_001201429,NM_012295,NM_001199281 CABIN1,CABIN1,CABIN1 EXON Missense_L766F,Missense_L816F,Missense_L816F exm1593808 22 24468346 [C/G] NM_001201429,NM_012295,NM_001199281 CABIN1,CABIN1,CABIN1 EXON Missense_P790A,Missense_P840A,Missense_P840A exm1593811 22 24468386 [A/G] NM_001201429,NM_012295,NM_001199281 CABIN1,CABIN1,CABIN1 EXON Missense_R803Q,Missense_R853Q,Missense_R853Q exm1593813 22 24468448 [T/C] NM_001201429,NM_012295,NM_001199281 CABIN1,CABIN1,CABIN1 EXON Missense_P824S,Missense_P874S,Missense_P874S exm1593823 22 24479193 [G/C] NM_001201429,NM_012295,NM_001199281 CABIN1,CABIN1,CABIN1 EXON Missense_Q871E,Missense_Q921E,Missense_Q921E exm1593840 22 24481006 [C/G] NM_001201429,NM_012295,NM_001199281 CABIN1,CABIN1,CABIN1 EXON Missense_N1005K,Missense_N1055K,Missense_N1055K exm1593842 22 24483436 [T/C] NM_001201429,NM_012295,NM_001199281 CABIN1,CABIN1,CABIN1 EXON Missense_R1049W,Missense_R1099W,Missense_R1099W exm1593857 22 24487543 [A/G] NM_001201429,NM_012295,NM_001199281 CABIN1,CABIN1,CABIN1 EXON Missense_G1128S,Missense_G1178S,Missense_G1178S exm1593858 22 24487546 [T/C] NM_001201429,NM_012295,NM_001199281 CABIN1,CABIN1,CABIN1 EXON Missense_R1129W,Missense_R1179W,Missense_R1179W exm1593864 22 24487714 [G/C] NM_001201429,NM_012295,NM_001199281 CABIN1,CABIN1,CABIN1 EXON Missense_H1185D,Missense_H1235D,Missense_H1235D exm1593865 22 24487738 [T/C] NM_001201429,NM_012295,NM_001199281 CABIN1,CABIN1,CABIN1 EXON Missense_R1193C,Missense_R1243C,Missense_R1243C exm1593866 22 24487739 [A/G] NM_001201429,NM_012295,NM_001199281 CABIN1,CABIN1,CABIN1 EXON Missense_R1193H,Missense_R1243H,Missense_R1243H exm1593887 22 24509536 [A/G] NM_001201429,NM_012295,NM_001199281 CABIN1,CABIN1,CABIN1 EXON Missense_R1324Q,Missense_R1374Q,Missense_R1374Q exm1593891 22 24509645 [C/G] NM_001201429,NM_012295,NM_001199281 CABIN1,CABIN1,CABIN1 EXON Missense_K1360N,Missense_K1410N,Missense_K1410N exm1593894 22 24509662 [A/G] NM_001201429,NM_012295,NM_001199281 CABIN1,CABIN1,CABIN1 EXON Missense_S1366N,Missense_S1416N,Missense_S1416N exm1593922 22 24560471 [A/G] NM_001201429,NM_012295,NM_001199281 CABIN1,CABIN1,CABIN1 EXON Missense_R1567Q,Missense_R1617Q,Missense_R1617Q exm1593945 22 24562838 [T/C] NM_001201429,NM_012295,NM_001199281 CABIN1,CABIN1,CABIN1 EXON Missense_R1697W,Missense_R1747W,Missense_R1747W exm1593946 22 24562844 [A/G] NM_001201429,NM_012295,NM_001199281 CABIN1,CABIN1,CABIN1 EXON Missense_D1699N,Missense_D1749N,Missense_D1749N exm1593951 22 24562940 [T/C] NM_001201429,NM_012295,NM_001199281 CABIN1,CABIN1,CABIN1 EXON Missense_P1731S,Missense_P1781S,Missense_P1781S exm1593952 22 24562944 [A/G] NM_001201429,NM_012295,NM_001199281 CABIN1,CABIN1,CABIN1 EXON Missense_G1732D,Missense_G1782D,Missense_G1782D exm1593955 22 24562961 [T/C] NM_001201429,NM_012295,NM_001199281 CABIN1,CABIN1,CABIN1 EXON Missense_R1738W,Missense_R1788W,Missense_R1788W exm2002765 22 24562977 [A/G] NM_001201429,NM_012295,NM_001199281 CABIN1,CABIN1,CABIN1 EXON Missense_R1743Q,Missense_R1793Q,Missense_R1793Q exm1593980 22 24567744 [G/C] NM_001201429,NM_012295,NM_001199281 CABIN1,CABIN1,CABIN1 EXON Missense_V1891L,Missense_V1941L,Missense_V1941L exm1593984 22 24567795 [T/C] NM_001201429,NM_012295,NM_001199281 CABIN1,CABIN1,CABIN1 EXON Missense_R1908W,Missense_R1958W,Missense_R1958W exm1593985 22 24567805 [A/C] NM_001201429,NM_012295,NM_001199281 CABIN1,CABIN1,CABIN1 EXON Missense_D1911A,Missense_D1961A,Missense_D1961A exm1593989 22 24567865 [T/C] NM_001201429,NM_012295,NM_001199281 CABIN1,CABIN1,CABIN1 EXON Missense_P1931L,Missense_P1981L,Missense_P1981L exm1593991 22 24567897 [A/G] NM_001201429,NM_012295,NM_001199281 CABIN1,CABIN1,CABIN1 EXON Missense_K1942E,Missense_K1992E,Missense_K1992E exm2002775 22 24567910 [T/C] NM_001201429,NM_012295,NM_001199281 CABIN1,CABIN1,CABIN1 EXON Missense_P1946L,Missense_P1996L,Missense_P1996L exm1594022 22 24574054 [A/G] NM_001201429,NM_012295,NM_001199281 CABIN1,CABIN1,CABIN1 EXON Missense_V2135M,Missense_V2185M,Missense_V2185M exm1594024 22 24574137 [C/G] NM_001201429,NM_012295,NM_001199281 CABIN1,CABIN1,CABIN1 EXON Missense_D2162E,Missense_D2212E,Missense_D2212E exm1594053 22 24579503 [A/T] NM_019601 SUSD2 EXON Missense_S110T exm1594062 22 24579593 [T/C] NM_019601 SUSD2 EXON Missense_R140C exm1594063 22 24579594 [A/G] NM_019601 SUSD2 EXON Missense_R140H exm1594064 22 24579597 [T/C] NM_019601 SUSD2 EXON Missense_A141V exm1594069 22 24580157 [G/C] NM_019601 SUSD2 EXON Missense_R165G exm1594070 22 24580158 [A/G] NM_019601 SUSD2 EXON Missense_R165H exm1594071 22 24580210 [A/G] NM_019601 SUSD2 EXON Nonsense_W182X exm1594073 22 24580235 [A/G] NM_019601 SUSD2 EXON Missense_T191A exm1594097 22 24581123 [T/C] NM_019601 SUSD2 EXON Nonsense_R282X exm1594113 22 24581511 [A/G] NM_019601 SUSD2 EXON Missense_V348M exm1594116 22 24581634 [A/G] NM_019601 SUSD2 EXON Missense_R359Q exm1594131 22 24581754 [T/C] NM_019601 SUSD2 EXON Missense_T399M exm2002806 22 24581769 [G/C] NM_019601 SUSD2 EXON Missense_P404R exm1594140 22 24581865 [A/G] NM_019601 SUSD2 EXON Missense_N436S exm1594143 22 24581995 [A/G] NM_019601 SUSD2 EXON Missense_G451R exm1594144 22 24582041 [A/G] NM_019601 SUSD2 EXON Missense_N466S exm1594148 22 24582080 [T/C] NM_019601 SUSD2 EXON Missense_T479I exm1594151 22 24582098 [T/C] NM_019601 SUSD2 EXON Missense_A485V exm1594160 22 24582236 [T/C] NM_019601 SUSD2 EXON Missense_R499C exm1594176 22 24583271 [A/G] NM_019601 SUSD2 EXON Missense_V582I exm1594179 22 24583364 [T/C] NM_019601 SUSD2 EXON Missense_R613C exm1594180 22 24583365 [A/G] NM_019601 SUSD2 EXON Missense_R613H exm2002818 22 24583377 [G/C] NM_019601 SUSD2 EXON Missense_P617R exm1594188 22 24583544 [A/G] NM_019601 SUSD2 EXON Missense_V633M exm1594207 22 24583953 [T/C] NM_019601 SUSD2 EXON Missense_P731S exm1594211 22 24584027 [A/C] NM_019601 SUSD2 EXON Nonsense_Y755X exm1594228 22 24584280 [A/G] NM_019601 SUSD2 EXON Missense_R810H exm1594246 22 24616059 [T/C] NM_001099782,NM_001099781,NM_004121 GGT5,GGT5,GGT5 EXON Missense_R515H,Missense_R548H,Missense_R547H exm1594247 22 24616060 [A/G] NM_001099782,NM_001099781,NM_004121 GGT5,GGT5,GGT5 EXON Missense_R515C,Missense_R548C,Missense_R547C exm1594258 22 24621293 [T/C] NM_001099782,NM_001099781,NM_004121 GGT5,GGT5,GGT5 EXON Missense_I443V,Missense_I476V,Missense_I475V exm1594259 22 24621323 [T/C] NM_001099782,NM_001099781,NM_004121 GGT5,GGT5,GGT5 EXON Missense_E433K,Missense_E466K,Missense_E465K exm1594267 22 24621541 [A/G] NM_001099782,NM_001099781,NM_004121 GGT5,GGT5,GGT5 EXON Missense_R405W,Missense_R437W,Missense_R437W exm1594271 22 24621586 [T/C] NM_001099782,NM_001099781,NM_004121 GGT5,GGT5,GGT5 EXON Missense_I390V,Missense_I422V,Missense_I422V exm1594287 22 24622648 [T/C] NM_001099782,NM_001099781,NM_004121 GGT5,GGT5,GGT5 EXON Missense_K298R,Missense_K330R,Missense_K330R exm1594289 22 24622663 [A/G] NM_001099782,NM_001099781,NM_004121 GGT5,GGT5,GGT5 EXON Missense_T293M,Missense_T325M,Missense_T325M exm1594324 22 24629905 [T/C] NM_001099782,NM_001099781,NM_004121 GGT5,GGT5,GGT5 EXON Missense_V81I,Missense_V81I,Missense_V81I exm1594355 22 24709420 [T/C] NM_001254732,NM_015330,NM_001145468 SPECC1L,SPECC1L,SPECC1L EXON Missense_S98F,Missense_S98F,Missense_S98F exm1594357 22 24717258 [A/G] NM_001254732,NM_015330,NM_001145468 SPECC1L,SPECC1L,SPECC1L EXON Missense_T104A,Missense_T104A,Missense_T104A exm1594364 22 24717411 [T/C] NM_001254732,NM_015330,NM_001145468 SPECC1L,SPECC1L,SPECC1L EXON Missense_R155C,Missense_R155C,Missense_R155C exm1594365 22 24717418 [A/G] NM_001254732,NM_015330,NM_001145468 SPECC1L,SPECC1L,SPECC1L EXON Missense_R157Q,Missense_R157Q,Missense_R157Q exm1594368 22 24717444 [A/G] NM_001254732,NM_015330,NM_001145468 SPECC1L,SPECC1L,SPECC1L EXON Missense_M166V,Missense_M166V,Missense_M166V exm1594369 22 24717510 [T/C] NM_001254732,NM_015330,NM_001145468 SPECC1L,SPECC1L,SPECC1L EXON Missense_L188F,Missense_L188F,Missense_L188F exm1594370 22 24717517 [T/C] NM_001254732,NM_015330,NM_001145468 SPECC1L,SPECC1L,SPECC1L EXON Missense_T190M,Missense_T190M,Missense_T190M exm1594372 22 24717548 [A/T] NM_001254732,NM_015330,NM_001145468 SPECC1L,SPECC1L,SPECC1L EXON Missense_L200F,Missense_L200F,Missense_L200F exm1594376 22 24717619 [A/G] NM_001254732,NM_015330,NM_001145468 SPECC1L,SPECC1L,SPECC1L EXON Missense_E224G,Missense_E224G,Missense_E224G exm2002885 22 24717637 [T/C] NM_001254732,NM_015330,NM_001145468 SPECC1L,SPECC1L,SPECC1L EXON Missense_T230I,Missense_T230I,Missense_T230I exm1594388 22 24717820 [A/G] NM_001254732,NM_015330,NM_001145468 SPECC1L,SPECC1L,SPECC1L EXON Missense_Y291C,Missense_Y291C,Missense_Y291C exm1594389 22 24717835 [T/C] NM_001254732,NM_015330,NM_001145468 SPECC1L,SPECC1L,SPECC1L EXON Missense_P296L,Missense_P296L,Missense_P296L exm2002886 22 24717843 [A/G] NM_001254732,NM_015330,NM_001145468 SPECC1L,SPECC1L,SPECC1L EXON Missense_T299A,Missense_T299A,Missense_T299A exm1594390 22 24717850 [A/G] NM_001254732,NM_015330,NM_001145468 SPECC1L,SPECC1L,SPECC1L EXON Missense_D301G,Missense_D301G,Missense_D301G exm2002891 22 24718288 [A/G] NM_001254732,NM_015330,NM_001145468 SPECC1L,SPECC1L,SPECC1L EXON Missense_E447G,Missense_E447G,Missense_E447G exm1594401 22 24718347 [T/C] NM_001254732,NM_015330,NM_001145468 SPECC1L,SPECC1L,SPECC1L EXON Missense_R467C,Missense_R467C,Missense_R467C exm1594404 22 24718408 [A/G] NM_001254732,NM_015330,NM_001145468 SPECC1L,SPECC1L,SPECC1L EXON Missense_R487H,Missense_R487H,Missense_R487H exm1594408 22 24718528 [T/A] NM_001254732,NM_015330,NM_001145468 SPECC1L,SPECC1L,SPECC1L EXON Missense_N527I,Missense_N527I,Missense_N527I exm1594409 22 24718567 [A/G] NM_001254732,NM_015330,NM_001145468 SPECC1L,SPECC1L,SPECC1L EXON Missense_R540H,Missense_R540H,Missense_R540H exm1594413 22 24718677 [A/C] NM_001254732,NM_015330,NM_001145468 SPECC1L,SPECC1L,SPECC1L EXON Missense_N577H,Missense_N577H,Missense_N577H exm1594420 22 24720252 [T/C] NM_001254732,NM_015330,NM_001145468 SPECC1L,SPECC1L,SPECC1L EXON Missense_T668M,Missense_T668M,Missense_T668M exm1594425 22 24724816 [A/G] NM_001254732,NM_015330,NM_001145468 SPECC1L,SPECC1L,SPECC1L EXON Missense_T717A,Missense_T717A,Missense_T717A exm2002898 22 24726329 [T/C] NM_001254732,NM_015330,NM_001145468 SPECC1L,SPECC1L,SPECC1L EXON Missense_R776C,Missense_R776C,Missense_R776C exm1594438 22 24730421 [A/G] NM_001254732,NM_015330,NM_001145468 SPECC1L,SPECC1L,SPECC1L EXON Missense_V814I,Missense_V814I,Missense_V814I exm1594449 22 24743090 [T/C] NM_001254732,NM_015330,NM_001145468,NM_001254733 SPECC1L,SPECC1L,SPECC1L,SPECC1L EXON Missense_P897S,Missense_P897S,Missense_P897S,Silent exm1594455 22 24761467 [A/G] NM_001254732,NM_015330,NM_001145468,NM_001254733 SPECC1L,SPECC1L,SPECC1L,SPECC1L EXON Missense_V951M,Missense_V951M,Missense_V951M,Missense_V17M exm1594458 22 24761498 [T/C] NM_001254732,NM_015330,NM_001145468,NM_001254733 SPECC1L,SPECC1L,SPECC1L,SPECC1L EXON Missense_A961V,Missense_A961V,Missense_A961V,Missense_A27V exm2276754 22 24810547 [A/G] NM_001254732,NM_015330,NM_001145468,NM_001254733 SPECC1L,SPECC1L,SPECC1L,SPECC1L EXON Missense_V1065M,Missense_V1104M,Missense_V1104M,Missense_V170M exm2002969 22 24829383 [T/C] NM_000675,NR_028484 ADORA2A,ADORA2A-AS1 EXON Missense_M4T,Silent exm1594487 22 24829521 [T/C] NM_000675,NR_028484 ADORA2A,ADORA2A-AS1 EXON Missense_A50V,Silent exm1594496 22 24836657 [A/G] NM_000675,NR_028484,NR_028483 ADORA2A,ADORA2A-AS1,ADORA2A-AS1 EXON Missense_G147S,Silent,Silent exm1594515 22 24837041 [A/G] NM_000675,NR_028484,NR_028483 ADORA2A,ADORA2A-AS1,ADORA2A-AS1 EXON Missense_V275I,Silent,Silent exm1594527 22 24837236 [A/G] NM_000675,NR_028484,NR_028483 ADORA2A,ADORA2A-AS1,ADORA2A-AS1 EXON Missense_G340S,Silent,Silent exm1594535 22 24837424 [A/C] NM_000675,NR_028484,NR_028483 ADORA2A,ADORA2A-AS1,ADORA2A-AS1 EXON Missense_D402E,Silent,Silent exm2273024 22 24881781 [T/C] NR_028484,NR_028483 ADORA2A-AS1,ADORA2A-AS1 Silent,Silent exm1594551 22 24891433 [T/A] NM_016327 UPB1 EXON Missense_D21V exm1594552 22 24891453 [A/G] NM_016327 UPB1 EXON Missense_V28I exm2003004 22 24891462 [A/G] NM_016327 UPB1 EXON Missense_G31S exm1594556 22 24896082 [G/C] NM_016327 UPB1 EXON Missense_D38H exm1594565 22 24896224 [A/C] NM_016327 UPB1 EXON Missense_A85E exm1594573 22 24898175 [T/G] NM_016327 UPB1 EXON Missense_A120S exm1594586 22 24906738 [T/C] NM_016327 UPB1 EXON Missense_T129M exm1594593 22 24909346 [A/G] NM_016327 UPB1 EXON Missense_E172K exm1594607 22 24911253 [T/C] NM_016327 UPB1 EXON Missense_R236W exm2235401 22 24911254 [A/G] NM_016327 UPB1 EXON Missense_R236Q exm1594613 22 24916355 [A/C] NM_016327 UPB1 EXON Missense_S264R exm1594624 22 24919586 [A/G] NM_016327 UPB1 Silent exm1594631 22 24919647 [A/G] NM_016327 UPB1 EXON Missense_R326Q exm1594655 22 24939810 [A/G] NM_031444 GUCD1 EXON Missense_P210S exm1594656 22 24939813 [T/C] NM_031444 GUCD1 EXON Missense_D209N exm2003038 22 24939873 [T/C] NM_031444 GUCD1 EXON Missense_V189M exm1594666 22 24939965 [T/C] NM_031444 GUCD1 EXON Missense_D158G exm1594668 22 24939978 [A/C] NM_031444 GUCD1 EXON Missense_V154L exm1594696 22 24963975 [T/C] NM_004175 SNRPD3 EXON Synonymous_Y50Y exm2255046 22 24963975 [T/C] NM_004175 SNRPD3 EXON Synonymous_Y50Y exm1594728 22 24982005 [T/C] NM_013430,NM_207644 GGT1,FAM211B EXON Silent,Missense_R266Q exm1594730 22 24982011 [T/C] NM_013430,NM_207644 GGT1,FAM211B EXON Silent,Missense_R264H exm1594732 22 24982018 [T/C] NM_013430,NM_207644 GGT1,FAM211B EXON Silent,Missense_G262S exm1594735 22 24982063 [T/C] NM_013430,NM_207644 GGT1,FAM211B EXON Silent,Missense_G247S exm1594736 22 24982098 [A/G] NM_013430,NM_207644 GGT1,FAM211B EXON Silent,Missense_T235I exm2003055 22 24982103 [G/C] NM_013430,NM_207644 GGT1,FAM211B EXON Silent,Missense_K233N exm1594737 22 24982125 [T/C] NM_013430,NM_207644 GGT1,FAM211B EXON Silent,Missense_R226H exm1594738 22 24982126 [A/G] NM_013430,NM_207644 GGT1,FAM211B EXON Silent,Missense_R226C exm1594739 22 24982137 [T/C] NM_013430,NM_207644 GGT1,FAM211B EXON Silent,Missense_R222Q exm1594746 22 24982194 [A/C] NM_013430,NM_207644 GGT1,FAM211B EXON Silent,Missense_S203I exm1594750 22 24982233 [A/G] NM_013430,NM_207644 GGT1,FAM211B EXON Silent,Missense_T190M exm1594754 22 24982254 [A/G] NM_013430,NM_207644 GGT1,FAM211B EXON Silent,Missense_A183V exm1594757 22 24982371 [G/C] NM_013430,NM_207644 GGT1,FAM211B EXON Silent,Missense_S144T exm1594758 22 24984186 [T/G] NM_013430,NM_207644 GGT1,FAM211B EXON Silent,Missense_S140R exm1594759 22 24984204 [A/G] NM_013430,NM_207644 GGT1,FAM211B EXON Silent,Missense_R134C exm1594765 22 24984260 [A/C] NM_013430,NM_207644 GGT1,FAM211B EXON Silent,Missense_R115L exm1594766 22 24984261 [A/G] NM_013430,NM_207644 GGT1,FAM211B EXON Silent,Nonsense_R115X exm1594768 22 24984275 [A/G] NM_013430,NM_207644 GGT1,FAM211B EXON Silent,Missense_S110L exm1594779 22 24985848 [T/C] NM_013430,NM_207644 GGT1,FAM211B EXON Silent,Missense_D83N exm1594780 22 24985853 [A/G] NM_013430,NM_207644 GGT1,FAM211B EXON Silent,Missense_P81L exm1594781 22 24985860 [C/G] NM_013430,NM_207644 GGT1,FAM211B EXON Silent,Missense_L79V exm-rs4820599 22 24990213 [A/G] NM_013430 GGT1 Silent exm-rs5751901 22 24992266 [T/C] NM_013430 GGT1 Silent exm1594803 22 25010855 [A/G] NM_013430,NM_001032364,NM_005265,NM_001032365 GGT1,GGT1,GGT1,GGT1 EXON Missense_I93V,Missense_I93V,Missense_I93V,Missense_I93V exm1594804 22 25010874 [A/G] NM_013430,NM_001032364,NM_005265,NM_001032365 GGT1,GGT1,GGT1,GGT1 Silent,Silent,Silent,Silent exm2255047 22 25082586 [T/G] exm1594893 22 25115449 [A/G] NM_001255975,NR_045648,NR_045649,NM_001008496 PIWIL3,PIWIL3,PIWIL3,PIWIL3 EXON Missense_F871S,Silent,Silent,Missense_F880S exm1594894 22 25115456 [A/G] NM_001255975,NR_045648,NR_045649,NM_001008496 PIWIL3,PIWIL3,PIWIL3,PIWIL3 EXON Missense_R869C,Silent,Silent,Missense_R878C exm1594896 22 25115459 [T/G] NM_001255975,NR_045648,NR_045649,NM_001008496 PIWIL3,PIWIL3,PIWIL3,PIWIL3 EXON Missense_T868P,Silent,Silent,Missense_T877P exm1594900 22 25115524 [T/C] NM_001255975,NR_045648,NR_045649,NM_001008496 PIWIL3,PIWIL3,PIWIL3,PIWIL3 EXON Missense_Y846C,Silent,Silent,Missense_Y855C exm2275186 22 25115747 [A/G] NM_001255975,NR_045648,NR_045649,NM_001008496 PIWIL3,PIWIL3,PIWIL3,PIWIL3 EXON Missense_Y825H,Silent,Silent,Missense_Y834H exm1594907 22 25115780 [T/C] NM_001255975,NR_045648,NR_045649,NM_001008496 PIWIL3,PIWIL3,PIWIL3,PIWIL3 EXON Missense_G814S,Silent,Silent,Missense_G823S exm1594914 22 25119160 [T/C] NM_001255975,NR_045648,NR_045649,NM_001008496 PIWIL3,PIWIL3,PIWIL3,PIWIL3 EXON Missense_G765E,Silent,Silent,Missense_G774E exm1594916 22 25119191 [A/G] NM_001255975,NR_045648,NR_045649,NM_001008496 PIWIL3,PIWIL3,PIWIL3,PIWIL3 EXON Nonsense_R755X,Silent,Silent,Nonsense_R764X exm1594932 22 25123957 [T/C] NM_001255975,NR_045648,NR_045649,NM_001008496 PIWIL3,PIWIL3,PIWIL3,PIWIL3 EXON Missense_I657V,Silent,Silent,Missense_I666V exm1594933 22 25123968 [T/C] NM_001255975,NR_045648,NR_045649,NM_001008496 PIWIL3,PIWIL3,PIWIL3,PIWIL3 EXON Missense_R653Q,Silent,Silent,Missense_R662Q exm1594934 22 25123969 [A/G] NM_001255975,NR_045648,NR_045649,NM_001008496 PIWIL3,PIWIL3,PIWIL3,PIWIL3 EXON Nonsense_R653X,Silent,Silent,Nonsense_R662X exm1594935 22 25123975 [T/C] NM_001255975,NR_045648,NR_045649,NM_001008496 PIWIL3,PIWIL3,PIWIL3,PIWIL3 EXON Missense_V651I,Silent,Silent,Missense_V660I exm1594942 22 25124143 [T/C] NM_001255975,NR_045648,NR_045649,NM_001008496 PIWIL3,PIWIL3,PIWIL3,PIWIL3 Silent,Silent,Silent,Silent exm1594944 22 25124151 [T/C] NM_001255975,NR_045648,NR_045649,NM_001008496 PIWIL3,PIWIL3,PIWIL3,PIWIL3 EXON Missense_E633G,Silent,Silent,Missense_E642G exm1594945 22 25124155 [T/C] NM_001255975,NR_045648,NR_045649,NM_001008496 PIWIL3,PIWIL3,PIWIL3,PIWIL3 EXON Missense_V632M,Silent,Silent,Missense_V641M exm2003127 22 25124176 [T/C] NM_001255975,NR_045648,NR_045649,NM_001008496 PIWIL3,PIWIL3,PIWIL3,PIWIL3 EXON Missense_M625V,Silent,Silent,Missense_M634V exm1594949 22 25124311 [A/G] NM_001255975,NR_045648,NR_045649,NM_001008496 PIWIL3,PIWIL3,PIWIL3,PIWIL3 EXON Missense_R580C,Silent,Silent,Missense_R589C exm1594956 22 25130050 [A/C] NM_001255975,NR_045648,NR_045649,NM_001008496 PIWIL3,PIWIL3,PIWIL3,PIWIL3 Silent,Silent,Silent,Silent exm1594958 22 25130068 [T/C] NM_001255975,NR_045648,NR_045649,NM_001008496 PIWIL3,PIWIL3,PIWIL3,PIWIL3 EXON Missense_R564G,Silent,Silent,Missense_R564G exm1594959 22 25130077 [T/C] NM_001255975,NR_045648,NR_045649,NM_001008496 PIWIL3,PIWIL3,PIWIL3,PIWIL3 EXON Missense_K561E,Silent,Silent,Missense_K561E exm1594963 22 25131681 [T/G] NM_001255975,NR_045648,NR_045649,NM_001008496 PIWIL3,PIWIL3,PIWIL3,PIWIL3 EXON Missense_A543E,Silent,Silent,Missense_A543E exm2003133 22 25131837 [T/C] NM_001255975,NR_045648,NR_045649,NM_001008496 PIWIL3,PIWIL3,PIWIL3,PIWIL3 EXON Missense_D491G,Silent,Silent,Missense_D491G exm1594965 22 25144894 [T/C] NM_001255975,NR_045648,NR_045649,NM_001008496 PIWIL3,PIWIL3,PIWIL3,PIWIL3 EXON Missense_I477V,Silent,Silent,Missense_I477V exm1594967 22 25144912 [T/C] NM_001255975,NR_045648,NR_045649,NM_001008496 PIWIL3,PIWIL3,PIWIL3,PIWIL3 EXON Missense_V471I,Silent,Silent,Missense_V471I exm1594972 22 25144975 [A/G] NM_001255975,NR_045648,NR_045649,NM_001008496 PIWIL3,PIWIL3,PIWIL3,PIWIL3 EXON Nonsense_R450X,Silent,Silent,Nonsense_R450X exm1594976 22 25145453 [T/C] NM_001255975,NR_045648,NR_045649,NM_001008496 PIWIL3,PIWIL3,PIWIL3,PIWIL3 EXON Missense_V418M,Silent,Silent,Missense_V418M exm1594978 22 25145471 [A/G] NM_001255975,NR_045648,NR_045649,NM_001008496 PIWIL3,PIWIL3,PIWIL3,PIWIL3 EXON Missense_C412R,Silent,Silent,Missense_C412R exm2003140 22 25145737 [T/A] NM_001255975,NR_045648,NR_045649,NM_001008496 PIWIL3,PIWIL3,PIWIL3,PIWIL3 EXON Missense_Q380L,Silent,Silent,Missense_Q380L exm1594983 22 25145753 [A/G] NM_001255975,NR_045648,NR_045649,NM_001008496 PIWIL3,PIWIL3,PIWIL3,PIWIL3 EXON Missense_P375S,Silent,Silent,Missense_P375S exm1594993 22 25147456 [T/G] NM_001255975,NR_045648,NR_045649,NM_001008496 PIWIL3,PIWIL3,PIWIL3,PIWIL3 EXON Missense_N329K,Silent,Silent,Missense_N329K exm1594994 22 25149988 [G/C] NM_001255975,NR_045648,NR_045649,NM_001008496 PIWIL3,PIWIL3,PIWIL3,PIWIL3 EXON Missense_L324V,Silent,Silent,Missense_L324V exm1594995 22 25150026 [T/C] NM_001255975,NR_045648,NR_045649,NM_001008496 PIWIL3,PIWIL3,PIWIL3,PIWIL3 EXON Missense_R311Q,Silent,Silent,Missense_R311Q exm1594997 22 25150030 [T/C] NM_001255975,NR_045648,NR_045649,NM_001008496 PIWIL3,PIWIL3,PIWIL3,PIWIL3 EXON Missense_I310V,Silent,Silent,Missense_I310V exm1595004 22 25150138 [A/G] NM_001255975,NR_045648,NR_045649,NM_001008496 PIWIL3,PIWIL3,PIWIL3,PIWIL3 EXON Missense_Y274H,Silent,Silent,Missense_Y274H exm1595006 22 25150147 [T/C] NM_001255975,NR_045648,NR_045649,NM_001008496 PIWIL3,PIWIL3,PIWIL3,PIWIL3 EXON Missense_V271I,Silent,Silent,Missense_V271I exm1595008 22 25150757 [T/C] NM_001255975,NR_045648,NR_045649,NM_001008496 PIWIL3,PIWIL3,PIWIL3,PIWIL3 EXON Missense_R256H,Silent,Silent,Missense_R256H exm1595012 22 25150797 [A/G] NM_001255975,NR_045648,NR_045649,NM_001008496 PIWIL3,PIWIL3,PIWIL3,PIWIL3 EXON Missense_R243C,Silent,Silent,Missense_R243C exm1595019 22 25151833 [T/C] NM_001255975,NR_045648,NR_045649,NM_001008496 PIWIL3,PIWIL3,PIWIL3,PIWIL3 EXON Missense_V204M,Silent,Silent,Missense_V204M exm1595023 22 25152471 [A/G] NM_001255975,NR_045648,NR_045649,NM_001008496 PIWIL3,PIWIL3,PIWIL3,PIWIL3 EXON Missense_P186L,Silent,Silent,Missense_P186L exm1595024 22 25152475 [A/G] NM_001255975,NR_045648,NR_045649,NM_001008496 PIWIL3,PIWIL3,PIWIL3,PIWIL3 EXON Missense_R185W,Silent,Silent,Missense_R185W exm1595025 22 25152477 [A/G] NM_001255975,NR_045648,NR_045649,NM_001008496 PIWIL3,PIWIL3,PIWIL3,PIWIL3 EXON Missense_S184F,Silent,Silent,Missense_S184F exm1595027 22 25152511 [A/G] NM_001255975,NR_045648,NR_045649,NM_001008496 PIWIL3,PIWIL3,PIWIL3,PIWIL3 EXON Missense_R173C,Silent,Silent,Missense_R173C exm1595031 22 25152618 [T/C] NM_001255975,NR_045648,NR_045649,NM_001008496 PIWIL3,PIWIL3,PIWIL3,PIWIL3 EXON Missense_R137H,Silent,Silent,Missense_R137H exm1595036 22 25152658 [T/C] NM_001255975,NR_045648,NR_045649,NM_001008496 PIWIL3,PIWIL3,PIWIL3,PIWIL3 EXON Missense_V124M,Silent,Silent,Missense_V124M exm1595049 22 25155922 [T/C] NM_001255975,NR_045648,NR_045649,NM_001008496 PIWIL3,PIWIL3,PIWIL3,PIWIL3 EXON Missense_R46Q,Silent,Silent,Missense_R46Q exm1595050 22 25155925 [A/G] NM_001255975,NR_045648,NR_045649,NM_001008496 PIWIL3,PIWIL3,PIWIL3,PIWIL3 EXON Missense_P45L,Silent,Silent,Missense_P45L exm1595056 22 25158391 [T/C] NM_001255975,NR_045648,NR_045649,NM_001008496 PIWIL3,PIWIL3,PIWIL3,PIWIL3 EXON Missense_G26R,Silent,Silent,Missense_G26R exm1595060 22 25158404 [T/A] NM_001255975,NR_045648,NR_045649,NM_001008496 PIWIL3,PIWIL3,PIWIL3,PIWIL3 EXON Missense_Q21H,Silent,Silent,Missense_Q21H exm1595062 22 25158423 [T/C] NM_001255975,NR_045648,NR_045649,NM_001008496 PIWIL3,PIWIL3,PIWIL3,PIWIL3 EXON Missense_R15H,Silent,Silent,Missense_R15H exm1595066 22 25158438 [T/C] NM_001255975,NR_045648,NR_045649,NM_001008496 PIWIL3,PIWIL3,PIWIL3,PIWIL3 EXON Missense_R10Q,Silent,Silent,Missense_R10Q exm2275187 22 25158439 [C/G] NM_001255975,NR_045648,NR_045649,NM_001008496 PIWIL3,PIWIL3,PIWIL3,PIWIL3 EXON Missense_R10G,Silent,Silent,Missense_R10G exm1595070 22 25158444 [T/C] NM_001255975,NR_045648,NR_045649,NM_001008496 PIWIL3,PIWIL3,PIWIL3,PIWIL3 EXON Missense_R8H,Silent,Silent,Missense_R8H exm1595071 22 25158445 [A/G] NM_001255975,NR_045648,NR_045649,NM_001008496 PIWIL3,PIWIL3,PIWIL3,PIWIL3 EXON Missense_R8C,Silent,Silent,Missense_R8C exm1595090 22 25243618 [A/G] NM_001098497,NM_001039948,NM_001098498,NM_133454 SGSM1,SGSM1,SGSM1,SGSM1 EXON Missense_V53I,Missense_V53I,Missense_V53I,Missense_V53I exm1595098 22 25243709 [T/C] NM_001098497,NM_001039948,NM_001098498,NM_133454 SGSM1,SGSM1,SGSM1,SGSM1 EXON Missense_P83L,Missense_P83L,Missense_P83L,Missense_P83L exm1595099 22 25243727 [A/G] NM_001098497,NM_001039948,NM_001098498,NM_133454 SGSM1,SGSM1,SGSM1,SGSM1 EXON Missense_R89H,Missense_R89H,Missense_R89H,Missense_R89H exm1595101 22 25243756 [A/G] NM_001098497,NM_001039948,NM_001098498,NM_133454 SGSM1,SGSM1,SGSM1,SGSM1 EXON Missense_E99K,Missense_E99K,Missense_E99K,Missense_E99K exm1595105 22 25246247 [A/G] NM_001098497,NM_001039948,NM_001098498,NM_133454 SGSM1,SGSM1,SGSM1,SGSM1 EXON Synonymous_A101A,Synonymous_A101A,Synonymous_A101A,Synonymous_A101A exm1595108 22 25246287 [G/C] NM_001098497,NM_001039948,NM_001098498,NM_133454 SGSM1,SGSM1,SGSM1,SGSM1 EXON Missense_L115V,Missense_L115V,Missense_L115V,Missense_L115V exm1595110 22 25246303 [A/G] NM_001098497,NM_001039948,NM_001098498,NM_133454 SGSM1,SGSM1,SGSM1,SGSM1 EXON Missense_N120S,Missense_N120S,Missense_N120S,Missense_N120S exm1595119 22 25251372 [T/C] NM_001098497,NM_001039948,NM_001098498,NM_133454 SGSM1,SGSM1,SGSM1,SGSM1 EXON Missense_S215L,Missense_S215L,Missense_S215L,Missense_S215L exm1595123 22 25251516 [A/G] NM_001098497,NM_001039948,NM_001098498,NM_133454 SGSM1,SGSM1,SGSM1,SGSM1 EXON Missense_I224V,Missense_I224V,Missense_I224V,Missense_I224V exm1595126 22 25251573 [A/G] NM_001098497,NM_001039948,NM_001098498,NM_133454 SGSM1,SGSM1,SGSM1,SGSM1 EXON Missense_D243N,Missense_D243N,Missense_D243N,Missense_D243N exm2235406 22 25255776 [A/G] NM_001098497,NM_001039948,NM_001098498,NM_133454 SGSM1,SGSM1,SGSM1,SGSM1 EXON Missense_G299R,Missense_G299R,Missense_G299R,Missense_G299R exm1595147 22 25264730 [A/G] NM_001098497,NM_001039948,NM_001098498,NM_133454 SGSM1,SGSM1,SGSM1,SGSM1 EXON Missense_G400D,Missense_G400D,Missense_G400D,Missense_G400D exm1595153 22 25270390 [A/G] NM_001098497,NM_001039948,NM_001098498,NM_133454 SGSM1,SGSM1,SGSM1,SGSM1 EXON Silent,Missense_D434N,Silent,Missense_D434N exm1595155 22 25270441 [G/C] NM_001098497,NM_001039948,NM_001098498,NM_133454 SGSM1,SGSM1,SGSM1,SGSM1 EXON Silent,Missense_V451L,Silent,Missense_V451L exm1595161 22 25270520 [T/C] NM_001098497,NM_001039948,NM_001098498,NM_133454 SGSM1,SGSM1,SGSM1,SGSM1 EXON Silent,Missense_T477M,Silent,Missense_T477M exm1595163 22 25270529 [T/C] NM_001098497,NM_001039948,NM_001098498,NM_133454 SGSM1,SGSM1,SGSM1,SGSM1 EXON Silent,Missense_P480L,Silent,Missense_P480L exm1595181 22 25282584 [T/G] NM_001098497,NM_001039948,NM_001098498,NM_133454 SGSM1,SGSM1,SGSM1,SGSM1 EXON Missense_E553D,Missense_E608D,Missense_E553D,Missense_E608D exm1595188 22 25282688 [C/G] NM_001098497,NM_001039948,NM_001098498,NM_133454 SGSM1,SGSM1,SGSM1,SGSM1 EXON Missense_R588T,Missense_R643T,Missense_R588T,Missense_R643T exm2261191 22 25287889 [A/C] NM_001098497,NM_001039948,NM_001098498,NM_133454 SGSM1,SGSM1,SGSM1,SGSM1 Silent,Silent,Silent,Silent exm1595212 22 25294155 [A/C] NM_001098497,NM_001039948,NM_001098498,NM_133454 SGSM1,SGSM1,SGSM1,SGSM1 EXON Missense_T747P,Missense_T802P,Missense_T686P,Missense_T741P exm1595218 22 25294234 [A/G] NM_001098497,NM_001039948,NM_001098498,NM_133454 SGSM1,SGSM1,SGSM1,SGSM1 EXON Missense_R773Q,Missense_R828Q,Missense_R712Q,Missense_R767Q exm1595225 22 25294369 [A/G] NM_001098497,NM_001039948,NM_001098498,NM_133454 SGSM1,SGSM1,SGSM1,SGSM1 EXON Missense_R818K,Missense_R873K,Missense_R757K,Missense_R812K exm1595228 22 25294399 [T/C] NM_001098497,NM_001039948,NM_001098498,NM_133454 SGSM1,SGSM1,SGSM1,SGSM1 EXON Missense_A828V,Missense_A883V,Missense_A767V,Missense_A822V exm1595230 22 25294420 [T/C] NM_001098497,NM_001039948,NM_001098498,NM_133454 SGSM1,SGSM1,SGSM1,SGSM1 EXON Missense_S835L,Missense_S890L,Missense_S774L,Missense_S829L exm1595233 22 25294447 [T/C] NM_001098497,NM_001039948,NM_001098498,NM_133454 SGSM1,SGSM1,SGSM1,SGSM1 EXON Missense_F844S,Missense_F899S,Missense_F783S,Missense_F838S exm1595243 22 25301142 [A/G] NM_001098497,NM_001039948,NM_001098498,NM_133454 SGSM1,SGSM1,SGSM1,SGSM1 EXON Missense_I936V,Missense_I991V,Missense_I875V,Missense_I930V exm1595248 22 25315810 [A/G] NM_001098497,NM_001039948,NM_001098498,NM_133454 SGSM1,SGSM1,SGSM1,SGSM1 EXON Missense_V1015I,Missense_V1070I,Missense_V954I,Missense_V1009I exm1595250 22 25315849 [A/G] NM_001098497,NM_001039948,NM_001098498,NM_133454 SGSM1,SGSM1,SGSM1,SGSM1 EXON Missense_V1028I,Missense_V1083I,Missense_V967I,Missense_V1022I exm1595254 22 25315903 [T/C] NM_001098497,NM_001039948,NM_001098498,NM_133454 SGSM1,SGSM1,SGSM1,SGSM1 EXON Missense_R1046C,Missense_R1101C,Missense_R985C,Missense_R1040C exm1595263 22 25331451 [T/C] NM_001001663 TMEM211 EXON Missense_G80D exm1595275 22 25334184 [T/G] NM_001001663 TMEM211 EXON Missense_A20D exm1595277 22 25334220 [A/G] NM_001001663 TMEM211 EXON Missense_L8P exm2235415 22 25436468 [T/C] NM_001145206 KIAA1671 EXON Missense_I1124T exm2235416 22 25436557 [A/T] NM_001145206 KIAA1671 EXON Missense_S1154T exm1595348 22 25570332 [A/G] NM_001145206 KIAA1671 EXON Missense_R1592K exm1595357 22 25573488 [A/G] NM_001145206 KIAA1671 EXON Synonymous_T1691T exm1595358 22 25577667 [A/G] NM_001145206 KIAA1671 EXON Synonymous_E1692E exm2235417 22 25577763 [T/G] NM_001145206 KIAA1671 EXON Missense_F1724L exm1595370 22 25597371 [A/G] NM_004076 CRYBB3 EXON Missense_E3G exm1595373 22 25597401 [G/C] NM_004076 CRYBB3 EXON Missense_A13G exm1595377 22 25598690 [T/C] NM_004076 CRYBB3 EXON Missense_S42L exm2003318 22 25598695 [A/G] NM_004076 CRYBB3 EXON Missense_E44K exm2003319 22 25598760 [A/G] NM_004076 CRYBB3 Silent exm2003322 22 25599759 [A/G] NM_004076 CRYBB3 EXON Missense_R75H exm1595382 22 25599798 [A/G] NM_004076 CRYBB3 EXON Missense_R88H exm1595383 22 25599849 [A/G] NM_004076 CRYBB3 EXON Missense_R105Q exm1595384 22 25599863 [T/G] NM_004076 CRYBB3 Silent exm1595385 22 25601196 [G/C] NM_004076 CRYBB3 EXON Missense_H113D exm1595395 22 25603018 [A/G] NM_004076 CRYBB3 EXON Missense_V159I exm1595399 22 25603074 [T/G] NM_004076 CRYBB3 EXON Missense_E177D exm1595400 22 25603078 [T/C] NM_004076 CRYBB3 EXON Missense_R179C exm1595401 22 25603079 [A/G] NM_004076 CRYBB3 EXON Missense_R179H exm1595402 22 25603090 [T/G] NM_004076 CRYBB3 EXON Nonsense_E183X exm1595407 22 25603127 [A/G] NM_004076 CRYBB3 EXON Missense_R195H exm1595409 22 25603146 [T/G] NM_004076 CRYBB3 EXON Missense_K201N exm1595417 22 25617436 [A/T] NM_000496 CRYBB2 EXON Missense_S14T exm1595426 22 25623888 [A/G] NM_000496 CRYBB2 EXON Missense_R81H exm1595438 22 25627680 [A/G] NM_000496 CRYBB2 EXON Missense_V187M exm2268405 22 25650460 [A/G] exm1595536 22 25747801 [T/C] NM_001135772,NM_182492 LRP5L,LRP5L EXON Missense_G242S,Missense_G242S exm2003471 22 25747810 [A/T] NM_001135772,NM_182492 LRP5L,LRP5L EXON Missense_T239S,Missense_T239S exm1595548 22 25750626 [T/C] NM_001135772,NM_182492 LRP5L,LRP5L EXON Missense_V198I,Missense_V198I exm1595550 22 25750656 [A/G] NM_001135772,NM_182492 LRP5L,LRP5L EXON Missense_R188W,Missense_R188W exm1595553 22 25750676 [G/C] NM_001135772,NM_182492 LRP5L,LRP5L EXON Missense_W181S,Missense_W181S exm1595554 22 25750680 [T/C] NM_001135772,NM_182492 LRP5L,LRP5L EXON Missense_A180T,Missense_A180T exm1595561 22 25750778 [A/G] NM_001135772,NM_182492 LRP5L,LRP5L EXON Missense_A147V,Missense_A147V exm1595567 22 25753287 [T/C] NM_001135772,NM_182492 LRP5L,LRP5L EXON Missense_G125S,Missense_G125S exm1595571 22 25753310 [T/C] NM_001135772,NM_182492 LRP5L,LRP5L EXON Missense_N117S,Missense_N117S exm1595574 22 25753322 [T/C] NM_001135772,NM_182492 LRP5L,LRP5L EXON Missense_R113H,Missense_R113H exm1595577 22 25753349 [T/C] NM_001135772,NM_182492 LRP5L,LRP5L EXON Missense_R104H,Missense_R104H exm1595579 22 25753362 [T/G] NM_001135772,NM_182492 LRP5L,LRP5L EXON Missense_P100T,Missense_P100T exm1595586 22 25755793 [T/C] NM_001135772,NM_182492 LRP5L,LRP5L Silent,Silent exm1595587 22 25755878 [A/G] NM_001135772,NM_182492 LRP5L,LRP5L EXON Missense_T61M,Missense_T61M exm1595589 22 25755885 [T/C] NM_001135772,NM_182492 LRP5L,LRP5L EXON Missense_E59K,Missense_E59K exm1595593 22 25755908 [A/G] NM_001135772,NM_182492 LRP5L,LRP5L EXON Missense_T51I,Missense_T51I exm1595595 22 25755924 [A/G] NM_001135772,NM_182492 LRP5L,LRP5L EXON Nonsense_R46X,Nonsense_R46X exm1595601 22 25755980 [A/G] NM_001135772,NM_182492 LRP5L,LRP5L EXON Missense_T27M,Missense_T27M exm1595602 22 25755984 [A/G] NM_001135772,NM_182492 LRP5L,LRP5L EXON Nonsense_Q26X,Nonsense_Q26X exm1595604 22 25755987 [T/C] NM_001135772,NM_182492 LRP5L,LRP5L EXON Missense_A25T,Missense_A25T exm1595619 22 26000352 [T/G] NM_005160 ADRBK2 EXON Missense_S41I exm1595632 22 26063736 [T/C] NM_005160 ADRBK2 EXON Nonsense_R158X exm1595636 22 26068297 [A/G] NM_005160 ADRBK2 EXON Missense_V180I exm1595642 22 26083561 [A/G] NM_005160 ADRBK2 EXON Missense_R295Q exm1595659 22 26100076 [A/G] NM_005160 ADRBK2 EXON Missense_N410D exm1595664 22 26100169 [A/G] NM_005160 ADRBK2 EXON Missense_G441R exm1595666 22 26105900 [T/G] NM_005160 ADRBK2 EXON Missense_G455V exm1595671 22 26110429 [T/C] NM_005160 ADRBK2 EXON Missense_R516C exm1595678 22 26114252 [A/G] NM_005160 ADRBK2 EXON Missense_M565I exm1595697 22 26157068 [C/G] NM_032608 MYO18B EXON Missense_I3M exm1595703 22 26159232 [T/C] NM_032608 MYO18B EXON Missense_S25L exm1595705 22 26159253 [T/C] NM_032608 MYO18B EXON Missense_V32A exm1595707 22 26159289 [A/G] NM_032608 MYO18B EXON Missense_G44E exm1595708 22 26159313 [T/C] NM_032608 MYO18B EXON Missense_A52V exm1595720 22 26164192 [G/C] NM_032608 MYO18B EXON Missense_D103E exm1595726 22 26164245 [G/C] NM_032608 MYO18B EXON Missense_T121R exm1595732 22 26164328 [A/G] NM_032608 MYO18B EXON Missense_R149G exm1595733 22 26164368 [T/C] NM_032608 MYO18B EXON Missense_P162L exm1595738 22 26164413 [T/C] NM_032608 MYO18B EXON Missense_P177L exm1595759 22 26164758 [T/C] NM_032608 MYO18B EXON Missense_T292M exm1595765 22 26164855 [T/A] NM_032608 MYO18B EXON Missense_R324S exm1595773 22 26165025 [T/C] NM_032608 MYO18B EXON Missense_T381M exm1595774 22 26165040 [A/G] NM_032608 MYO18B EXON Missense_G386D exm1595775 22 26165065 [C/G] NM_032608 MYO18B EXON Missense_K394N exm1595776 22 26165109 [A/G] NM_032608 MYO18B EXON Missense_R409Q exm1595780 22 26165205 [A/G] NM_032608 MYO18B EXON Missense_R441H exm1595797 22 26166839 [T/C] NM_032608 MYO18B EXON Missense_A527V exm1595800 22 26166900 [G/C] NM_032608 MYO18B EXON Missense_W547C exm1595801 22 26166902 [T/A] NM_032608 MYO18B EXON Missense_I548N exm1595807 22 26168367 [C/G] NM_032608 MYO18B EXON Missense_V587L exm1595810 22 26168448 [T/C] NM_032608 MYO18B EXON Missense_R614W exm1595813 22 26173557 [A/G] NM_032608 MYO18B EXON Missense_K626R exm1595820 22 26173661 [T/C] NM_032608 MYO18B EXON Missense_W661R exm1595824 22 26176101 [A/G] NM_032608 MYO18B EXON Missense_R716Q exm1595835 22 26181397 [T/C] NM_032608 MYO18B EXON Missense_T772M exm1595840 22 26193939 [T/C] NM_032608 MYO18B EXON Missense_A799V exm1595853 22 26219491 [T/G] NM_032608 MYO18B EXON Missense_M847I exm1595869 22 26222454 [T/C] NM_032608 MYO18B EXON Missense_S925L exm1595872 22 26224825 [A/G] NM_032608 MYO18B EXON Missense_K957E exm2003577 22 26224835 [T/C] NM_032608 MYO18B EXON Missense_A960V exm1595876 22 26224900 [T/C] NM_032608 MYO18B EXON Missense_R982W exm1595878 22 26224922 [A/G] NM_032608 MYO18B EXON Missense_Q989R exm1595885 22 26231312 [C/G] NM_032608 MYO18B EXON Missense_W1037S exm1595887 22 26231322 [T/G] NM_032608 MYO18B EXON Missense_D1040E exm1595895 22 26239784 [A/C] NM_032608 MYO18B EXON Missense_D1097E exm1595900 22 26242096 [A/G] NM_032608 MYO18B EXON Missense_R1133Q exm1595902 22 26242129 [T/C] NM_032608 MYO18B EXON Missense_A1144V exm1595910 22 26243460 [T/C] NM_032608 MYO18B EXON Missense_P1206S exm1595914 22 26243604 [T/C] NM_032608 MYO18B EXON Missense_R1254C exm2235431 22 26264290 [A/G] NM_032608 MYO18B EXON Missense_V1297M exm1595919 22 26270269 [T/G] NM_032608 MYO18B EXON Missense_G1323V exm1595924 22 26270325 [T/C] NM_032608 MYO18B EXON Missense_L1342F exm1595934 22 26272244 [T/C] NM_032608 MYO18B EXON Missense_S1390F exm1595936 22 26272270 [A/G] NM_032608 MYO18B EXON Missense_I1399V exm1595941 22 26273948 [A/G] NM_032608 MYO18B EXON Missense_R1416Q exm1595944 22 26286738 [T/A] NM_032608 MYO18B EXON Missense_S1444T exm1595945 22 26286750 [A/G] NM_032608 MYO18B EXON Missense_D1448N exm1595949 22 26286807 [T/C] NM_032608 MYO18B EXON Missense_R1467W exm1595957 22 26291182 [T/C] NM_032608 MYO18B EXON Missense_R1535C exm1595959 22 26291211 [C/G] NM_032608 MYO18B EXON Missense_D1544E exm1595969 22 26299697 [A/G] NM_032608 MYO18B EXON Missense_V1683I exm1595970 22 26299708 [T/G] NM_032608 MYO18B EXON Missense_L1686F exm2235433 22 26304316 [A/G] NM_032608 MYO18B EXON Missense_E1726K exm1595975 22 26304320 [A/G] NM_032608 MYO18B EXON Missense_R1727Q exm1595978 22 26304379 [T/C] NM_032608 MYO18B EXON Missense_R1747C exm1595990 22 26317368 [A/C] NM_032608 MYO18B EXON Missense_H1837N exm1595996 22 26342202 [T/C] NM_032608 MYO18B EXON Missense_R1873W exm1596011 22 26348304 [A/G] NM_032608 MYO18B EXON Missense_R1962Q exm1596022 22 26351253 [T/C] NM_032608 MYO18B EXON Missense_R2027C exm1596024 22 26351314 [A/G] NM_032608 MYO18B EXON Missense_R2047Q exm1596029 22 26388398 [T/C] NM_032608 MYO18B EXON Missense_R2076W exm-rs8139900 22 26394724 [A/G] NM_032608 MYO18B Silent exm-rs1001021 22 26403599 [A/G] NM_032608 MYO18B Silent exm1596045 22 26422447 [T/G] NM_032608 MYO18B EXON Missense_Q2169H exm1596051 22 26422536 [A/G] NM_032608 MYO18B EXON Missense_R2199Q exm1596061 22 26422740 [G/C] NM_032608 MYO18B EXON Missense_G2267A exm1596062 22 26422746 [T/C] NM_032608 MYO18B EXON Missense_T2269M exm1596063 22 26422754 [G/C] NM_032608 MYO18B EXON Missense_L2272V exm1596066 22 26422794 [A/G] NM_032608 MYO18B EXON Missense_G2285E exm1596077 22 26422980 [A/G] NM_032608 MYO18B EXON Missense_Q2347R exm1596083 22 26423082 [A/G] NM_032608 MYO18B EXON Missense_R2381H exm1596084 22 26423087 [T/C] NM_032608 MYO18B EXON Missense_R2383W exm1596088 22 26423124 [G/C] NM_032608 MYO18B EXON Missense_G2395A exm1596091 22 26423285 [T/C] NM_032608 MYO18B EXON Missense_R2449W exm1596092 22 26423296 [G/C] NM_032608 MYO18B EXON Missense_Q2452H exm1596105 22 26423477 [A/G] NM_032608 MYO18B EXON Missense_G2513S exm1596108 22 26423523 [G/C] NM_032608 MYO18B EXON Missense_P2528R exm1596109 22 26423535 [A/G] NM_032608 MYO18B EXON Missense_R2532Q exm1596118 22 26423592 [T/G] NM_032608 MYO18B EXON Missense_G2551V exm2261193 22 26455216 [T/C] exm2268406 22 26631600 [A/G] NM_001184777,NM_001184775,NM_021115,NM_001184773,NM_001184774,NM_001184776 SEZ6L,SEZ6L,SEZ6L,SEZ6L,SEZ6L,SEZ6L Silent,Silent,Silent,Silent,Silent,Silent exm1596130 22 26688413 [G/C] NM_001184777,NM_001184775,NM_021115,NM_001184773,NM_001184774,NM_001184776 SEZ6L,SEZ6L,SEZ6L,SEZ6L,SEZ6L,SEZ6L EXON Missense_L46V,Missense_L46V,Missense_L46V,Missense_L46V,Missense_L46V,Missense_L46V exm1596141 22 26688621 [G/C] NM_001184777,NM_001184775,NM_021115,NM_001184773,NM_001184774,NM_001184776 SEZ6L,SEZ6L,SEZ6L,SEZ6L,SEZ6L,SEZ6L EXON Missense_P115R,Missense_P115R,Missense_P115R,Missense_P115R,Missense_P115R,Missense_P115R exm2003678 22 26688692 [A/G] NM_001184777,NM_001184775,NM_021115,NM_001184773,NM_001184774,NM_001184776 SEZ6L,SEZ6L,SEZ6L,SEZ6L,SEZ6L,SEZ6L EXON Missense_A139T,Missense_A139T,Missense_A139T,Missense_A139T,Missense_A139T,Missense_A139T exm1596145 22 26688759 [T/C] NM_001184777,NM_001184775,NM_021115,NM_001184773,NM_001184774,NM_001184776 SEZ6L,SEZ6L,SEZ6L,SEZ6L,SEZ6L,SEZ6L EXON Missense_T161M,Missense_T161M,Missense_T161M,Missense_T161M,Missense_T161M,Missense_T161M exm1596154 22 26688831 [T/G] NM_001184777,NM_001184775,NM_021115,NM_001184773,NM_001184774,NM_001184776 SEZ6L,SEZ6L,SEZ6L,SEZ6L,SEZ6L,SEZ6L EXON Missense_W185L,Missense_W185L,Missense_W185L,Missense_W185L,Missense_W185L,Missense_W185L exm1596156 22 26688852 [C/G] NM_001184777,NM_001184775,NM_021115,NM_001184773,NM_001184774,NM_001184776 SEZ6L,SEZ6L,SEZ6L,SEZ6L,SEZ6L,SEZ6L EXON Missense_A192G,Missense_A192G,Missense_A192G,Missense_A192G,Missense_A192G,Missense_A192G exm-rs688034 22 26689635 [T/C] NM_001184777,NM_001184775,NM_021115,NM_001184773,NM_001184774,NM_001184776 SEZ6L,SEZ6L,SEZ6L,SEZ6L,SEZ6L,SEZ6L Silent,Silent,Silent,Silent,Silent,Silent exm1596188 22 26693026 [A/C] NM_001184777,NM_001184775,NM_021115,NM_001184773,NM_001184774,NM_001184776 SEZ6L,SEZ6L,SEZ6L,SEZ6L,SEZ6L,SEZ6L EXON Missense_T381N,Missense_T381N,Missense_T381N,Missense_T381N,Missense_T381N,Missense_T381N exm1596190 22 26694950 [G/C] NM_001184777,NM_001184775,NM_021115,NM_001184773,NM_001184774,NM_001184776 SEZ6L,SEZ6L,SEZ6L,SEZ6L,SEZ6L,SEZ6L EXON Missense_A388G,Missense_A388G,Missense_A388G,Missense_A388G,Missense_A388G,Missense_A388G exm1596194 22 26695009 [A/G] NM_001184777,NM_001184775,NM_021115,NM_001184773,NM_001184774,NM_001184776 SEZ6L,SEZ6L,SEZ6L,SEZ6L,SEZ6L,SEZ6L EXON Missense_D408N,Missense_D408N,Missense_D408N,Missense_D408N,Missense_D408N,Missense_D408N exm1596197 22 26695057 [A/G] NM_001184777,NM_001184775,NM_021115,NM_001184773,NM_001184774,NM_001184776 SEZ6L,SEZ6L,SEZ6L,SEZ6L,SEZ6L,SEZ6L EXON Missense_E424K,Missense_E424K,Missense_E424K,Missense_E424K,Missense_E424K,Missense_E424K exm1596199 22 26695077 [T/G] NM_001184777,NM_001184775,NM_021115,NM_001184773,NM_001184774,NM_001184776 SEZ6L,SEZ6L,SEZ6L,SEZ6L,SEZ6L,SEZ6L EXON Missense_M430I,Missense_M430I,Missense_M430I,Missense_M430I,Missense_M430I,Missense_M430I exm1596208 22 26706743 [A/G] NM_001184777,NM_001184775,NM_021115,NM_001184773,NM_001184774,NM_001184776 SEZ6L,SEZ6L,SEZ6L,SEZ6L,SEZ6L,SEZ6L EXON Missense_R541H,Missense_R541H,Missense_R541H,Missense_R541H,Missense_R541H,Missense_R541H exm2255054 22 26706747 [T/C] NM_001184777,NM_001184775,NM_021115,NM_001184773,NM_001184774,NM_001184776 SEZ6L,SEZ6L,SEZ6L,SEZ6L,SEZ6L,SEZ6L EXON Synonymous_I542I,Synonymous_I542I,Synonymous_I542I,Synonymous_I542I,Synonymous_I542I,Synonymous_I542I exm1596212 22 26706760 [A/G] NM_001184777,NM_001184775,NM_021115,NM_001184773,NM_001184774,NM_001184776 SEZ6L,SEZ6L,SEZ6L,SEZ6L,SEZ6L,SEZ6L EXON Missense_D547N,Missense_D547N,Missense_D547N,Missense_D547N,Missense_D547N,Missense_D547N exm2003706 22 26706770 [A/G] NM_001184777,NM_001184775,NM_021115,NM_001184773,NM_001184774,NM_001184776 SEZ6L,SEZ6L,SEZ6L,SEZ6L,SEZ6L,SEZ6L EXON Missense_R550Q,Missense_R550Q,Missense_R550Q,Missense_R550Q,Missense_R550Q,Missense_R550Q exm1596214 22 26706773 [T/C] NM_001184777,NM_001184775,NM_021115,NM_001184773,NM_001184774,NM_001184776 SEZ6L,SEZ6L,SEZ6L,SEZ6L,SEZ6L,SEZ6L EXON Missense_A551V,Missense_A551V,Missense_A551V,Missense_A551V,Missense_A551V,Missense_A551V exm1596218 22 26707734 [G/C] NM_001184777,NM_001184775,NM_021115,NM_001184773,NM_001184774,NM_001184776 SEZ6L,SEZ6L,SEZ6L,SEZ6L,SEZ6L,SEZ6L EXON Missense_A561G,Missense_A561G,Missense_A561G,Missense_A561G,Missense_A561G,Missense_A561G exm1596220 22 26707756 [T/G] NM_001184777,NM_001184775,NM_021115,NM_001184773,NM_001184774,NM_001184776 SEZ6L,SEZ6L,SEZ6L,SEZ6L,SEZ6L,SEZ6L EXON Nonsense_Y568X,Nonsense_Y568X,Nonsense_Y568X,Nonsense_Y568X,Nonsense_Y568X,Nonsense_Y568X exm2235438 22 26709765 [A/G] NM_001184777,NM_001184775,NM_021115,NM_001184773,NM_001184774,NM_001184776 SEZ6L,SEZ6L,SEZ6L,SEZ6L,SEZ6L,SEZ6L EXON Missense_V638M,Missense_V638M,Missense_V638M,Missense_V638M,Missense_V638M,Missense_V638M exm1596229 22 26709847 [A/G] NM_001184777,NM_001184775,NM_021115,NM_001184773,NM_001184774,NM_001184776 SEZ6L,SEZ6L,SEZ6L,SEZ6L,SEZ6L,SEZ6L EXON Missense_R665Q,Missense_R665Q,Missense_R665Q,Missense_R665Q,Missense_R665Q,Missense_R665Q exm1596233 22 26736486 [C/G] NM_001184777,NM_001184775,NM_021115,NM_001184773,NM_001184774,NM_001184776 SEZ6L,SEZ6L,SEZ6L,SEZ6L,SEZ6L,SEZ6L EXON Missense_N700K,Missense_N700K,Missense_N700K,Missense_N700K,Missense_N700K,Missense_N700K exm2003726 22 26769441 [T/C] NM_001184777,NM_001184775,NM_021115,NM_001184773,NM_001184774,NM_001184776 SEZ6L,SEZ6L,SEZ6L,SEZ6L,SEZ6L,SEZ6L EXON Silent,Silent,Missense_A940V,Missense_A940V,Silent,Silent exm1596269 22 26771580 [A/G] NM_001184777,NM_001184775,NM_021115,NM_001184773,NM_001184774,NM_001184776 SEZ6L,SEZ6L,SEZ6L,SEZ6L,SEZ6L,SEZ6L EXON Missense_N880S,Missense_N943S,Missense_N956S,Missense_N955S,Missense_N945S,Missense_N881S exm1596287 22 26829679 [T/G] NM_020437 ASPHD2 EXON Missense_V33G exm1596315 22 26830285 [A/G] NM_020437 ASPHD2 EXON Missense_N235S exm1596326 22 26838430 [A/C] NM_020437 ASPHD2 EXON Missense_K298Q exm1596336 22 26839071 [G/C] NM_020437 ASPHD2 EXON Missense_E337Q exm1596338 22 26839083 [T/C] NM_020437 ASPHD2 EXON Missense_R341W exm1596347 22 26849285 [T/C] NR_073135,NR_073136,NM_022081,NM_152841 HPS4,HPS4,HPS4,HPS4 EXON Silent,Silent,Missense_G681S,Missense_G676S exm1596354 22 26849360 [T/A] NR_073135,NR_073136,NM_022081,NM_152841 HPS4,HPS4,HPS4,HPS4 EXON Silent,Silent,Missense_T656S,Missense_T651S exm2003766 22 26853833 [T/C] NR_073135,NR_073136,NM_022081,NM_152841 HPS4,HPS4,HPS4,HPS4 EXON Silent,Silent,Missense_M649I,Missense_M644I exm1596361 22 26853892 [A/G] NR_073135,NR_073136,NM_022081,NM_152841 HPS4,HPS4,HPS4,HPS4 EXON Silent,Silent,Missense_L630F,Missense_L625F exm1596362 22 26853897 [T/C] NR_073135,NR_073136,NM_022081,NM_152841 HPS4,HPS4,HPS4,HPS4 EXON Silent,Silent,Missense_R628H,Missense_R623H exm1596363 22 26853905 [A/C] NR_073135,NR_073136,NM_022081,NM_152841 HPS4,HPS4,HPS4,HPS4 EXON Silent,Silent,Missense_Q625H,Missense_Q620H exm1596367 22 26854441 [A/G] NR_073135,NR_073136,NM_022081,NM_152841 HPS4,HPS4,HPS4,HPS4 EXON Silent,Silent,Missense_H606Y,Missense_H601Y exm1596370 22 26854510 [T/C] NR_073135,NR_073136,NM_022081,NM_152841 HPS4,HPS4,HPS4,HPS4 EXON Silent,Silent,Missense_E583K,Missense_E578K exm1596371 22 26859896 [A/G] NR_073135,NR_073136,NM_022081,NM_152841 HPS4,HPS4,HPS4,HPS4 EXON Silent,Silent,Missense_A567V,Missense_A562V exm1596375 22 26859917 [A/G] NR_073135,NR_073136,NM_022081,NM_152841 HPS4,HPS4,HPS4,HPS4 EXON Silent,Silent,Missense_P560L,Missense_P555L exm1596376 22 26859942 [T/C] NR_073135,NR_073136,NM_022081,NM_152841 HPS4,HPS4,HPS4,HPS4 EXON Silent,Silent,Missense_V552M,Missense_V547M exm2003773 22 26859956 [G/C] NR_073135,NR_073136,NM_022081,NM_152841 HPS4,HPS4,HPS4,HPS4 EXON Silent,Silent,Missense_C547S,Missense_C542S exm1596382 22 26860053 [A/G] NR_073135,NR_073136,NM_022081,NM_152841 HPS4,HPS4,HPS4,HPS4 EXON Silent,Silent,Missense_C515R,Missense_C510R exm1596384 22 26860061 [A/G] NR_073135,NR_073136,NM_022081,NM_152841 HPS4,HPS4,HPS4,HPS4 EXON Silent,Silent,Missense_S512L,Missense_S507L exm1596387 22 26860199 [T/C] NR_073135,NR_073136,NM_022081,NM_152841 HPS4,HPS4,HPS4,HPS4 EXON Silent,Silent,Missense_R466H,Missense_R461H exm1596388 22 26860200 [A/G] NR_073135,NR_073136,NM_022081,NM_152841 HPS4,HPS4,HPS4,HPS4 EXON Silent,Silent,Missense_R466C,Missense_R461C exm1596393 22 26860269 [C/G] NR_073135,NR_073136,NM_022081,NM_152841 HPS4,HPS4,HPS4,HPS4 EXON Silent,Silent,Missense_L443V,Missense_L438V exm1596398 22 26860364 [T/C] NR_073135,NR_073136,NM_022081,NM_152841 HPS4,HPS4,HPS4,HPS4 EXON Silent,Silent,Missense_S411N,Missense_S406N exm1596413 22 26860535 [G/C] NR_073135,NR_073136,NM_022081,NM_152841 HPS4,HPS4,HPS4,HPS4 EXON Silent,Silent,Missense_S354C,Missense_S349C exm1596414 22 26860536 [T/A] NR_073135,NR_073136,NM_022081,NM_152841 HPS4,HPS4,HPS4,HPS4 EXON Silent,Silent,Missense_S354T,Missense_S349T exm1596421 22 26860665 [T/G] NR_073135,NR_073136,NM_022081,NM_152841 HPS4,HPS4,HPS4,HPS4 EXON Silent,Silent,Missense_P311T,Missense_P306T exm1596426 22 26860760 [T/C] NR_073135,NR_073136,NM_022081,NM_152841 HPS4,HPS4,HPS4,HPS4 EXON Silent,Silent,Missense_G279D,Missense_G274D exm1596427 22 26860762 [T/A] NR_073135,NR_073136,NM_022081,NM_152841 HPS4,HPS4,HPS4,HPS4 EXON Silent,Silent,Missense_D278E,Missense_D273E exm1596439 22 26861514 [A/G] NR_073135,NR_073136,NM_022081,NM_152841 HPS4,HPS4,HPS4,HPS4 EXON Silent,Silent,Missense_A237V,Missense_A232V exm1596444 22 26862194 [T/C] NR_073135,NR_073136,NM_022081,NM_152841 HPS4,HPS4,HPS4,HPS4 EXON Silent,Silent,Missense_H235R,Missense_H230R exm1596446 22 26862212 [T/C] NR_073135,NR_073136,NM_022081,NM_152841 HPS4,HPS4,HPS4,HPS4 EXON Silent,Silent,Missense_E229G,Missense_E224G exm1596456 22 26866688 [T/C] NR_073135,NR_073136,NM_022081,NM_152841 HPS4,HPS4,HPS4,HPS4 EXON Silent,Silent,Missense_G198E,Missense_G193E exm2003793 22 26866718 [T/C] NR_073135,NR_073136,NM_022081,NM_152841 HPS4,HPS4,HPS4,HPS4 EXON Silent,Silent,Missense_H188R,Missense_H183R exm1596459 22 26866724 [A/G] NR_073135,NR_073136,NM_022081,NM_152841 HPS4,HPS4,HPS4,HPS4 EXON Silent,Silent,Missense_S186L,Missense_S181L exm1596467 22 26868324 [T/C] NR_073135,NR_073136,NM_022081,NM_152841 HPS4,HPS4,HPS4,HPS4 EXON Silent,Silent,Missense_N149D,Missense_N144D exm1596474 22 26868797 [T/C] NR_073135,NR_073136,NM_022081,NM_152841 HPS4,HPS4,HPS4,HPS4 Silent,Silent,Silent,Silent exm2003801 22 26868809 [C/G] NR_073135,NR_073136,NM_022081,NM_152841 HPS4,HPS4,HPS4,HPS4 EXON Silent,Silent,Missense_L125V,Missense_L120V exm1596475 22 26868862 [A/C] NR_073135,NR_073136,NM_022081,NM_152841 HPS4,HPS4,HPS4,HPS4 EXON Silent,Silent,Missense_R107L,Missense_R102L exm1596481 22 26872985 [T/C] NR_073135,NR_073136,NM_022081,NM_152841 HPS4,HPS4,HPS4,HPS4 EXON Silent,Silent,Missense_I84V,Missense_I79V exm1596486 22 26873045 [T/C] NR_073135,NR_073136,NM_022081,NM_152841 HPS4,HPS4,HPS4,HPS4 EXON Silent,Silent,Missense_V64I,Missense_V59I exm1596488 22 26873051 [A/G] NR_073135,NR_073136,NM_022081,NM_152841 HPS4,HPS4,HPS4,HPS4 EXON Silent,Silent,Missense_R62C,Missense_R57C exm1596509 22 26884039 [A/G] NM_001013694 SRRD EXON Missense_A99T exm1596510 22 26884042 [T/C] NM_001013694 SRRD EXON Missense_P100S exm1596511 22 26884079 [T/A] NM_001013694 SRRD EXON Missense_H112L exm1596512 22 26884086 [G/C] NM_001013694 SRRD EXON Missense_D114E exm1596530 22 26886094 [A/C] NM_001013694 SRRD EXON Missense_S232R exm1596539 22 26886994 [T/G] NM_001013694 SRRD EXON Missense_L256F exm2003823 22 26887442 [T/G] NM_001013694 SRRD EXON Missense_L275R exm1596550 22 26887540 [A/G] NM_001013694 SRRD EXON Missense_I308V exm1596568 22 26888197 [T/C] NM_001008697,NM_012143 TFIP11,TFIP11 EXON Missense_A766T,Missense_A766T exm1596572 22 26888221 [T/C] NM_001008697,NM_012143 TFIP11,TFIP11 EXON Missense_A758T,Missense_A758T exm2003833 22 26890155 [T/C] NM_001008697,NM_012143 TFIP11,TFIP11 EXON Missense_K703R,Missense_K703R exm1596607 22 26894869 [T/C] NM_001008697,NM_012143 TFIP11,TFIP11 EXON Missense_G468S,Missense_G468S exm1596620 22 26895231 [T/C] NM_001008697,NM_012143 TFIP11,TFIP11 EXON Missense_D390N,Missense_D390N exm2003856 22 26895387 [T/G] NM_001008697,NM_012143 TFIP11,TFIP11 EXON Missense_N338H,Missense_N338H exm1596650 22 26899691 [A/G] NM_001008697,NM_012143 TFIP11,TFIP11 EXON Missense_R197C,Missense_R197C exm1596654 22 26902371 [T/C] NM_001008697,NM_012143 TFIP11,TFIP11 EXON Missense_M140V,Missense_M140V exm1596655 22 26902388 [T/C] NM_001008697,NM_012143 TFIP11,TFIP11 EXON Missense_G134E,Missense_G134E exm1596660 22 26902835 [A/G] NM_001008697,NM_012143 TFIP11,TFIP11 EXON Missense_A90V,Missense_A90V exm1596666 22 26906070 [A/G] NM_001008697,NM_012143 TFIP11,TFIP11 EXON Nonsense_R57X,Nonsense_R57X exm1596677 22 26906217 [A/G] NM_001008697,NM_012143 TFIP11,TFIP11 EXON Missense_R8W,Missense_R8W exm1596693 22 26932397 [T/G] NM_003595,NM_001008566 TPST2,TPST2 EXON Missense_K300Q,Missense_K300Q exm1596708 22 26936901 [G/C] NM_003595,NM_001008566 TPST2,TPST2 EXON Missense_K232N,Missense_K232N exm1596720 22 26937139 [T/C] NM_003595,NM_001008566 TPST2,TPST2 EXON Missense_R153H,Missense_R153H exm1596722 22 26937214 [A/C] NM_003595,NM_001008566 TPST2,TPST2 EXON Missense_V128G,Missense_V128G exm1596727 22 26937244 [T/C] NM_003595,NM_001008566 TPST2,TPST2 EXON Missense_R118H,Missense_R118H exm1596728 22 26937263 [T/C] NM_003595,NM_001008566 TPST2,TPST2 EXON Missense_A112T,Missense_A112T exm2235443 22 26937314 [A/G] NM_003595,NM_001008566 TPST2,TPST2 EXON Missense_R95C,Missense_R95C exm1596738 22 26937391 [A/G] NM_003595,NM_001008566 TPST2,TPST2 EXON Missense_P69L,Missense_P69L exm1596742 22 26937440 [A/C] NM_003595,NM_001008566 TPST2,TPST2 EXON Missense_V53L,Missense_V53L exm1596780 22 27003875 [A/G] NM_001887 CRYBB1 EXON Missense_M137T exm1596783 22 27003891 [A/G] NM_001887 CRYBB1 EXON Missense_R132C exm1596785 22 27003957 [A/G] NM_001887 CRYBB1 EXON Missense_R110C exm1596786 22 27003985 [A/G] NM_001887 CRYBB1 EXON Synonymous_P100P exm1596789 22 27008043 [T/C] NM_001887 CRYBB1 EXON Missense_A98T exm1596794 22 27012105 [G/C] NM_001887 CRYBB1 EXON Missense_R60T exm1596796 22 27012132 [T/G] NM_001887 CRYBB1 EXON Missense_A51E exm1596799 22 27012178 [T/C] NM_001887 CRYBB1 EXON Missense_G36S exm1596811 22 27019197 [G/C] NM_001886 CRYBA4 Silent exm1596814 22 27019225 [T/C] NM_001886 CRYBA4 EXON Nonsense_Q23X exm1596821 22 27019264 [A/G] NM_001886 CRYBA4 EXON Missense_V36M exm1596828 22 27021497 [T/C] NM_001886 CRYBA4 EXON Nonsense_R71X exm1596830 22 27021503 [A/G] NM_001886 CRYBA4 EXON Missense_E73K exm1596835 22 27021576 [T/C] NM_001886 CRYBA4 EXON Missense_A97V exm1596837 22 27024258 [T/C] NM_001886 CRYBA4 EXON Missense_R103C exm1596857 22 27026389 [T/C] NM_001886 CRYBA4 EXON Missense_R177W exm-rs744016 22 27042106 [T/C] exm2255059 22 27129747 [A/G] exm2273055 22 27328787 [T/C] exm2255061 22 27638420 [A/G] exm-rs5762311 22 28090207 [A/G] exm2261199 22 28096963 [A/C] exm2268409 22 28106402 [A/G] exm1596872 22 28192982 [C/G] NM_002430 MN1 EXON Missense_E1184Q exm1596941 22 28195031 [A/G] NM_002430 MN1 EXON Missense_P501S exm1596958 22 28195386 [A/C] NM_002430 MN1 EXON Missense_Q382H exm1596969 22 28195715 [A/C] NM_002430 MN1 EXON Missense_A273S exm1596984 22 28196248 [T/C] NM_002430 MN1 EXON Missense_Q95R exm1596987 22 28196290 [G/C] NM_002430 MN1 EXON Missense_G81A exm1596989 22 28196339 [T/G] NM_002430 MN1 EXON Missense_M65L exm1596992 22 28196476 [T/C] NM_002430 MN1 EXON Missense_G19D exm1597023 22 28378351 [T/C] NR_026963,NM_001145418 TTC28-AS1,TTC28 EXON Silent,Missense_R2435H exm1597025 22 28378384 [C/G] NR_026963,NM_001145418 TTC28-AS1,TTC28 EXON Silent,Missense_A2424G exm1597026 22 28378445 [T/C] NR_026963,NM_001145418 TTC28-AS1,TTC28 EXON Silent,Missense_K2404E exm1597027 22 28378450 [T/C] NR_026963,NM_001145418 TTC28-AS1,TTC28 EXON Silent,Missense_N2402S exm1597032 22 28378688 [G/C] NR_026963,NM_001145418 TTC28-AS1,TTC28 EXON Silent,Missense_A2323P exm2004266 22 28378810 [T/G] NR_026963,NM_001145418 TTC28-AS1,TTC28 EXON Silent,Missense_D2282A exm1597043 22 28379120 [A/G] NR_026963,NM_001145418 TTC28-AS1,TTC28 EXON Silent,Missense_R2179C exm1597048 22 28379270 [T/C] NR_026963,NM_001145418 TTC28-AS1,TTC28 EXON Silent,Missense_A2129T exm1597070 22 28389314 [A/G] NR_026963,NM_001145418 TTC28-AS1,TTC28 EXON Silent,Missense_R1813W exm1597072 22 28389379 [T/C] NR_026963,NM_001145418 TTC28-AS1,TTC28 EXON Silent,Missense_R1791Q exm1597098 22 28397505 [A/G] NR_026963,NM_001145418 TTC28-AS1,TTC28 EXON Silent,Missense_R1419W exm1597104 22 28410313 [C/G] NM_001145418 TTC28 EXON Missense_L1381V exm1597109 22 28410336 [A/G] NM_001145418 TTC28 EXON Missense_P1373L exm1597114 22 28426233 [A/G] NM_001145418 TTC28 EXON Missense_R1352C exm2235453 22 28490078 [C/G] NM_001145418 TTC28 EXON Missense_H1308D exm1597123 22 28501344 [A/G] NM_001145418 TTC28 EXON Missense_T1077M exm1597126 22 28501414 [T/C] NM_001145418 TTC28 EXON Missense_E1054K exm1597133 22 28503194 [T/C] NM_001145418 TTC28 EXON Missense_Y880C exm2255068 22 28625291 [A/G] NM_001145418 TTC28 Silent exm2268411 22 28882973 [A/G] NM_001145418 TTC28 Silent exm1597177 22 29025743 [T/C] NM_001145418 TTC28 EXON Missense_E60K exm1597203 22 29091741 [A/G] NM_145862,NM_007194,NM_001257387,NM_001005735 CHEK2,CHEK2,CHEK2,CHEK2 EXON Missense_R377C,Missense_R406C,Missense_R185C,Missense_R449C exm1597220 22 29095881 [T/C] NM_145862,NM_007194,NM_001257387,NM_001005735 CHEK2,CHEK2,CHEK2,CHEK2 EXON Missense_R318H,Missense_R318H,Missense_R97H,Missense_R361H exm1597221 22 29095882 [A/G] NM_145862,NM_007194,NM_001257387,NM_001005735 CHEK2,CHEK2,CHEK2,CHEK2 EXON Missense_R318C,Missense_R318C,Missense_R97C,Missense_R361C exm-rs1547014 22 29100711 [T/C] NM_145862,NM_007194,NM_001257387,NM_001005735 CHEK2,CHEK2,CHEK2,CHEK2 Silent,Silent,Silent,Silent exm1597252 22 29121019 [A/G] NM_145862,NM_007194,NM_001257387,NM_001005735 CHEK2,CHEK2,CHEK2,CHEK2 EXON Missense_R180C,Missense_R180C,Silent,Missense_R223C exm2235458 22 29121028 [A/T] NM_145862,NM_007194,NM_001257387,NM_001005735 CHEK2,CHEK2,CHEK2,CHEK2 EXON Nonsense_K177X,Nonsense_K177X,Silent,Nonsense_K220X exm1597255 22 29121087 [A/G] NM_145862,NM_007194,NM_001257387,NM_001005735 CHEK2,CHEK2,CHEK2,CHEK2 EXON Missense_I157T,Missense_I157T,Silent,Missense_I200T exm1597261 22 29121326 [T/C] NM_145862,NM_007194,NM_001257387,NM_001005735 CHEK2,CHEK2,CHEK2,CHEK2 EXON Missense_R117G,Missense_R117G,Silent,Missense_R160G exm-rs738722 22 29130012 [T/C] NM_145862,NM_007194,NM_001257387,NM_001005735 CHEK2,CHEK2,CHEK2,CHEK2 Silent,Silent,Silent,Silent exm1597265 22 29130456 [A/G] NM_145862,NM_007194,NM_001257387,NM_001005735 CHEK2,CHEK2,CHEK2,CHEK2 EXON Missense_P85L,Missense_P85L,Silent,Missense_P85L exm1597269 22 29130520 [T/C] NM_145862,NM_007194,NM_001257387,NM_001005735 CHEK2,CHEK2,CHEK2,CHEK2 EXON Missense_E64K,Missense_E64K,Silent,Missense_E64K exm1597276 22 29130696 [A/G] NM_145862,NM_007194,NM_001257387,NM_001005735 CHEK2,CHEK2,CHEK2,CHEK2 EXON Missense_S5L,Missense_S5L,Silent,Missense_S5L exm1597277 22 29130703 [A/G] NM_145862,NM_007194,NM_001257387,NM_001005735 CHEK2,CHEK2,CHEK2,CHEK2 EXON Missense_R3W,Missense_R3W,Silent,Missense_R3W exm1597302 22 29141906 [A/C] NM_172002 HSCB EXON Missense_Q160K exm1597304 22 29141917 [A/G] NM_172002 HSCB EXON Missense_I163M exm1597305 22 29141930 [A/C] NM_172002 HSCB EXON Missense_I168L exm1597321 22 29169729 [A/G] NM_173510 CCDC117 EXON Missense_K68E exm2004495 22 29169761 [T/G] NM_173510 CCDC117 EXON Missense_D78E exm1597341 22 29182169 [T/C] NM_173510 CCDC117 EXON Missense_T232I exm1597393 22 29196494 [T/C] NM_005080,NM_001079539 XBP1,XBP1 EXON Missense_A7T,Missense_A7T exm2273056 22 29318724 [T/C] NM_001206998,NM_032173 ZNRF3,ZNRF3 Silent,Silent exm1597414 22 29383125 [T/G] NM_001206998,NM_032173 ZNRF3,ZNRF3 EXON Missense_V121G,Missense_V21G exm2273027 22 29410104 [T/C] NM_001206998,NM_032173 ZNRF3,ZNRF3 Silent,Silent exm1597440 22 29444445 [A/C] NM_001206998,NM_032173 ZNRF3,ZNRF3 EXON Missense_H327Q,Missense_H227Q exm1597447 22 29445205 [A/G] NM_001206998,NM_032173 ZNRF3,ZNRF3 EXON Missense_A346T,Missense_A246T exm2235462 22 29445563 [A/G] NM_001206998,NM_032173 ZNRF3,ZNRF3 EXON Missense_Y465C,Missense_Y365C exm1597474 22 29445795 [A/C] NM_001206998,NM_032173 ZNRF3,ZNRF3 EXON Nonsense_Y542X,Nonsense_Y442X exm1597476 22 29445852 [A/C] NM_001206998,NM_032173 ZNRF3,ZNRF3 EXON Missense_H561Q,Missense_H461Q exm1597497 22 29446403 [T/C] NM_001206998,NM_032173 ZNRF3,ZNRF3 EXON Missense_P745L,Missense_P645L exm1597520 22 29446903 [A/C] NM_001206998,NM_032173 ZNRF3,ZNRF3 EXON Missense_Q912K,Missense_Q812K exm-rs4823006 22 29451671 [A/G] NM_001206998,NM_032173 ZNRF3,ZNRF3 EXON Silent,Silent exm1597532 22 29454819 [A/G] NM_015370 C22orf31 EXON Nonsense_Q262X exm1597534 22 29454836 [A/G] NM_015370 C22orf31 EXON Missense_A256V exm1597538 22 29454948 [T/C] NM_015370 C22orf31 EXON Missense_A219T exm1597542 22 29454998 [A/G] NM_015370 C22orf31 EXON Missense_T202M exm2255072 22 29455003 [T/C] NM_015370 C22orf31 EXON Synonymous_E200E exm1597553 22 29456467 [T/C] NM_015370 C22orf31 EXON Missense_N123S exm1597562 22 29456671 [A/G] NM_015370 C22orf31 EXON Missense_A55V exm1597563 22 29456699 [A/G] NM_015370 C22orf31 EXON Missense_C46R exm1597565 22 29456743 [T/C] NM_015370 C22orf31 EXON Missense_Y31C exm1597568 22 29456782 [T/C] NM_015370 C22orf31 EXON Missense_R18Q exm1597571 22 29456797 [A/G] NM_015370 C22orf31 EXON Missense_P13L exm1597583 22 29490381 [C/G] NM_032045,NM_001039570 KREMEN1,KREMEN1 EXON Missense_G78A,Missense_G78A exm-rs134678 22 29503955 [T/C] NM_032045,NM_001039570 KREMEN1,KREMEN1 Silent,Silent exm1597589 22 29517453 [A/G] NM_032045,NM_001039570 KREMEN1,KREMEN1 EXON Missense_R154Q,Missense_R154Q exm1597590 22 29517463 [T/G] NM_032045,NM_001039570 KREMEN1,KREMEN1 EXON Missense_R157S,Missense_R157S exm1597591 22 29521270 [T/G] NM_032045,NM_001039570 KREMEN1,KREMEN1 EXON Missense_G166V,Missense_G166V exm1597594 22 29521314 [A/G] NM_032045,NM_001039570 KREMEN1,KREMEN1 EXON Missense_G181R,Missense_G181R exm1597603 22 29533437 [T/C] NM_032045,NM_001039570 KREMEN1,KREMEN1 EXON Missense_R247W,Missense_R247W exm1597604 22 29533495 [T/C] NM_032045,NM_001039570 KREMEN1,KREMEN1 EXON Missense_S266L,Missense_S266L exm1597608 22 29533536 [A/G] NM_032045,NM_001039570 KREMEN1,KREMEN1 EXON Missense_V280I,Missense_V280I exm1597610 22 29533572 [G/C] NM_032045,NM_001039570 KREMEN1,KREMEN1 EXON Missense_L292V,Missense_L292V exm1597614 22 29533602 [A/G] NM_032045,NM_001039570 KREMEN1,KREMEN1 EXON Missense_I302V,Missense_I302V exm1597618 22 29534621 [A/G] NM_032045,NM_001039570 KREMEN1,KREMEN1 EXON Missense_E325G,Missense_E325G exm1597620 22 29534635 [A/G] NM_032045,NM_001039570 KREMEN1,KREMEN1 EXON Missense_E330K,Missense_E330K exm1597621 22 29534644 [A/G] NM_032045,NM_001039570 KREMEN1,KREMEN1 EXON Missense_A333T,Missense_A333T exm1597624 22 29534701 [A/G] NM_032045,NM_001039570 KREMEN1,KREMEN1 EXON Missense_A352T,Missense_A352T exm1597626 22 29534713 [T/G] NM_032045,NM_001039570 KREMEN1,KREMEN1 EXON Missense_S356A,Missense_S356A exm1597634 22 29537940 [A/G] NM_032045,NM_001039570 KREMEN1,KREMEN1 EXON Missense_R423H,Missense_R406H exm2268436 22 29602971 [A/G] NM_001267895,NM_133455 EMID1,EMID1 Silent,Silent exm1597647 22 29611019 [T/C] NM_001267895,NM_133455 EMID1,EMID1 EXON Missense_P69L,Missense_P69L exm1597650 22 29611565 [A/T] NM_001267895,NM_133455 EMID1,EMID1 EXON Missense_T89S,Missense_T89S exm1597652 22 29611568 [A/G] NM_001267895,NM_133455 EMID1,EMID1 EXON Missense_A90T,Missense_A90T exm1597656 22 29621128 [G/C] NM_001267895,NM_133455 EMID1,EMID1 EXON Missense_A107G,Missense_A109G exm1597657 22 29621158 [T/C] NM_001267895,NM_133455 EMID1,EMID1 EXON Missense_S117L,Missense_S119L exm1597659 22 29621173 [A/G] NM_001267895,NM_133455 EMID1,EMID1 EXON Missense_R122Q,Missense_R124Q exm1597671 22 29627111 [A/G] NM_001267895,NM_133455 EMID1,EMID1 EXON Missense_G188R,Missense_G190R exm1597681 22 29628260 [G/C] NM_001267895,NM_133455 EMID1,EMID1 EXON Missense_P229R,Missense_P231R exm1597691 22 29629433 [A/C] NM_001267895,NM_133455 EMID1,EMID1 EXON Missense_P295T,Missense_P297T exm1597698 22 29630337 [A/G] NM_001267895,NM_133455 EMID1,EMID1 EXON Missense_R356Q,Missense_R358Q exm1597744 22 29656431 [T/C] NM_012265 RHBDD3 EXON Nonsense_W289X exm1597750 22 29656532 [G/C] NM_012265 RHBDD3 EXON Missense_P256A exm1597752 22 29656585 [A/G] NM_012265 RHBDD3 EXON Missense_P238L exm1597753 22 29656697 [A/C] NM_012265 RHBDD3 EXON Missense_G230V exm1597754 22 29656706 [T/C] NM_012265 RHBDD3 EXON Missense_H227R exm1597761 22 29656837 [T/G] NM_012265 RHBDD3 EXON Missense_F183L exm1597771 22 29659953 [A/G] NM_012265 RHBDD3 EXON Missense_R135C exm1597798 22 29661524 [A/C] NM_012265 RHBDD3 EXON Missense_V31G exm1597807 22 29664337 [A/G] NM_001163287,NM_005243,NM_013986,NM_001163286,NM_001163285 EWSR1,EWSR1,EWSR1,EWSR1,EWSR1 EXON Synonymous_T4T,Synonymous_T4T,Synonymous_T4T,Synonymous_T4T,Synonymous_T4T exm1597832 22 29674201 [A/G] NM_001163287,NM_005243,NM_013986,NM_001163286,NM_001163285 EWSR1,EWSR1,EWSR1,EWSR1,EWSR1 EXON Missense_T137A,Missense_T137A,Missense_T143A,Missense_T137A,Missense_T137A exm1597837 22 29678534 [A/T] NM_001163287,NM_005243,NM_013986,NM_001163286,NM_001163285 EWSR1,EWSR1,EWSR1,EWSR1,EWSR1 EXON Missense_Y190F,Missense_Y190F,Missense_Y196F,Silent,Missense_Y190F exm1597876 22 29693859 [A/G] NM_005243,NM_013986,NM_001163286,NM_001163285 EWSR1,EWSR1,EWSR1,EWSR1 EXON Missense_R446Q,Missense_R451Q,Missense_R390Q,Missense_R445Q exm1597878 22 29693915 [A/G] NM_005243,NM_013986,NM_001163286,NM_001163285 EWSR1,EWSR1,EWSR1,EWSR1 EXON Missense_G465S,Missense_G470S,Missense_G409S,Missense_G464S exm1597882 22 29694755 [A/G] NM_005243,NM_013986,NM_001163286,NM_001163285 EWSR1,EWSR1,EWSR1,EWSR1 EXON Missense_M484V,Missense_M489V,Missense_M428V,Missense_M483V exm1597914 22 29696113 [A/G] NM_005243,NM_013986,NM_001163286,NM_001163285 EWSR1,EWSR1,EWSR1,EWSR1 EXON Missense_G645S,Missense_G650S,Missense_G589S,Missense_G644S exm1597929 22 29704361 [G/C] NM_006478,NM_152237,NM_152236 GAS2L1,GAS2L1,GAS2L1 EXON Missense_A89G,Missense_A89G,Missense_A89G exm1597930 22 29704409 [T/C] NM_006478,NM_152237,NM_152236 GAS2L1,GAS2L1,GAS2L1 EXON Missense_T105I,Missense_T105I,Missense_T105I exm1597932 22 29704423 [T/G] NM_006478,NM_152237,NM_152236 GAS2L1,GAS2L1,GAS2L1 EXON Missense_C110G,Missense_C110G,Missense_C110G exm1597941 22 29704627 [T/C] NM_006478,NM_152237,NM_152236 GAS2L1,GAS2L1,GAS2L1 EXON Missense_P178S,Missense_P178S,Missense_P178S exm1597944 22 29706514 [C/G] NM_006478,NM_152237,NM_152236 GAS2L1,GAS2L1,GAS2L1 EXON Missense_S240W,Missense_S240W,Missense_S240W exm1597949 22 29706885 [T/C] NM_006478,NM_152237,NM_152236 GAS2L1,GAS2L1,GAS2L1 EXON Missense_R303C,Missense_R303C,Missense_R303C exm2004701 22 29706919 [A/G] NM_006478,NM_152237,NM_152236 GAS2L1,GAS2L1,GAS2L1 EXON Missense_R314Q,Missense_R314Q,Missense_R314Q exm1597954 22 29706927 [C/G] NM_006478,NM_152237,NM_152236 GAS2L1,GAS2L1,GAS2L1 EXON Missense_R317G,Missense_R317G,Missense_R317G exm1597977 22 29707955 [A/T] NM_006478,NM_152237,NM_152236 GAS2L1,GAS2L1,GAS2L1 EXON Missense_H505L,Silent,Missense_H505L exm1597987 22 29708458 [T/C] NM_006478,NM_152237,NM_152236 GAS2L1,GAS2L1,GAS2L1 EXON Nonsense_R673X,Silent,Nonsense_R673X exm1598020 22 29726395 [T/C] NM_145730,NM_001166019,NM_001127 AP1B1,AP1B1,AP1B1 EXON Missense_R906Q,Missense_R886Q,Missense_R913Q exm1598024 22 29726477 [T/C] NM_145730,NM_001166019,NM_001127 AP1B1,AP1B1,AP1B1 EXON Missense_A879T,Missense_A859T,Missense_A886T exm1598027 22 29726515 [A/G] NM_145730,NM_001166019,NM_001127 AP1B1,AP1B1,AP1B1 EXON Missense_A866V,Missense_A846V,Missense_A873V exm1598028 22 29726516 [A/C] NM_145730,NM_001166019,NM_001127 AP1B1,AP1B1,AP1B1 EXON Missense_A866S,Missense_A846S,Missense_A873S exm2235472 22 29726624 [A/G] NM_145730,NM_001166019,NM_001127 AP1B1,AP1B1,AP1B1 EXON Missense_P860S,Missense_P840S,Missense_P867S exm1598050 22 29735056 [T/C] NM_145730,NM_001166019,NM_001127 AP1B1,AP1B1,AP1B1 EXON Missense_G689S,Missense_G689S,Missense_G696S exm1598051 22 29735065 [T/C] NM_145730,NM_001166019,NM_001127 AP1B1,AP1B1,AP1B1 EXON Missense_A686T,Missense_A686T,Missense_A693T exm1598066 22 29736764 [T/C] NM_145730,NM_001166019,NM_001127 AP1B1,AP1B1,AP1B1 EXON Missense_D627N,Missense_D627N,Missense_D627N exm1598075 22 29737521 [T/C] NM_145730,NM_001166019,NM_001127 AP1B1,AP1B1,AP1B1 EXON Missense_V589M,Missense_V589M,Missense_V589M exm2004741 22 29737551 [T/C] NM_145730,NM_001166019,NM_001127 AP1B1,AP1B1,AP1B1 EXON Missense_S579G,Missense_S579G,Missense_S579G exm1598085 22 29737633 [G/C] NM_145730,NM_001166019,NM_001127 AP1B1,AP1B1,AP1B1 EXON Missense_E551D,Missense_E551D,Missense_E551D exm2255074 22 29745219 [A/G] NM_145730,NM_001166019,NM_001127 AP1B1,AP1B1,AP1B1 EXON Synonymous_D475D,Synonymous_D475D,Synonymous_D475D exm1598093 22 29745219 [A/G] NM_145730,NM_001166019,NM_001127 AP1B1,AP1B1,AP1B1 EXON Synonymous_D475D,Synonymous_D475D,Synonymous_D475D exm1598114 22 29747699 [T/C] NM_145730,NM_001166019,NM_001127 AP1B1,AP1B1,AP1B1 EXON Missense_A352T,Missense_A352T,Missense_A352T exm1598122 22 29750817 [T/C] NM_145730,NM_001166019,NM_001127 AP1B1,AP1B1,AP1B1 EXON Missense_A254T,Missense_A254T,Missense_A254T exm2268412 22 29767034 [A/G] NM_145730,NM_001166019,NM_001127 AP1B1,AP1B1,AP1B1 Silent,Silent,Silent exm1598164 22 29834968 [A/G] NR_002727,NM_021026 RFPL1-AS1,RFPL1 EXON Silent,Missense_C63Y exm1598175 22 29835141 [T/C] NR_002727,NM_021026 RFPL1-AS1,RFPL1 EXON Silent,Missense_R121W exm2004786 22 29838017 [A/G] NR_002727,NM_021026 RFPL1-AS1,RFPL1 EXON Silent,Missense_S287N exm1598209 22 29838068 [T/C] NR_002727,NM_021026 RFPL1-AS1,RFPL1 EXON Silent,Missense_P304L exm1598210 22 29838088 [T/G] NR_002727,NM_021026 RFPL1-AS1,RFPL1 EXON Silent,Missense_V311F exm-rs13053817 22 29847722 [A/C] exm1598250 22 29879534 [A/C] NM_021076 NEFH EXON Missense_R352S exm2004794 22 29881766 [A/G] NM_021076 NEFH EXON Missense_A380T exm1598252 22 29881797 [A/C] NM_021076 NEFH EXON Missense_N390T exm1598266 22 29885204 [C/G] NM_021076 NEFH EXON Missense_K525N exm2004802 22 29885554 [T/C] NM_021076 NEFH EXON Missense_T642M exm1598334 22 29886043 [A/C] NM_021076 NEFH EXON Missense_E805A exm1598344 22 29886230 [T/G] NM_021076 NEFH EXON Missense_K867N exm1598349 22 29886400 [A/C] NM_021076 NEFH EXON Missense_E924A exm1598370 22 29904509 [T/C] NM_001002877,NM_001002878,NM_003678,NM_001002879 THOC5,THOC5,THOC5,THOC5 EXON Synonymous_R663R,Synonymous_R663R,Synonymous_R663R,Synonymous_R663R exm1598375 22 29907200 [T/C] NM_001002877,NM_001002878,NM_003678,NM_001002879 THOC5,THOC5,THOC5,THOC5 EXON Missense_R628Q,Missense_R628Q,Missense_R628Q,Missense_R628Q exm1598381 22 29908024 [T/C] NM_001002877,NM_001002878,NM_003678,NM_001002879 THOC5,THOC5,THOC5,THOC5 EXON Missense_D595N,Missense_D595N,Missense_D595N,Missense_D595N exm1598383 22 29908072 [T/C] NM_001002877,NM_001002878,NM_003678,NM_001002879 THOC5,THOC5,THOC5,THOC5 EXON Missense_V579I,Missense_V579I,Missense_V579I,Missense_V579I exm1598391 22 29913033 [T/C] NM_001002877,NM_001002878,NM_003678,NM_001002879 THOC5,THOC5,THOC5,THOC5 EXON Missense_I556V,Missense_I556V,Missense_I556V,Missense_I556V exm1598396 22 29913272 [T/C] NM_001002877,NM_001002878,NM_003678,NM_001002879 THOC5,THOC5,THOC5,THOC5 EXON Missense_V525I,Missense_V525I,Missense_V525I,Missense_V525I exm1598397 22 29913278 [T/C] NM_001002877,NM_001002878,NM_003678,NM_001002879 THOC5,THOC5,THOC5,THOC5 EXON Missense_V523M,Missense_V523M,Missense_V523M,Missense_V523M exm1598410 22 29916047 [T/A] NM_001002877,NM_001002878,NM_003678,NM_001002879 THOC5,THOC5,THOC5,THOC5 EXON Missense_L442M,Missense_L442M,Missense_L442M,Missense_L442M exm1598437 22 29927873 [A/G] NM_001002877,NM_001002878,NM_003678,NM_001002879 THOC5,THOC5,THOC5,THOC5 EXON Missense_P265L,Missense_P265L,Missense_P265L,Missense_P265L exm1598438 22 29927903 [T/C] NM_001002877,NM_001002878,NM_003678,NM_001002879 THOC5,THOC5,THOC5,THOC5 EXON Missense_H255R,Missense_H255R,Missense_H255R,Missense_H255R exm2004854 22 29935380 [T/C] NM_001002877,NM_001002878,NM_003678,NM_001002879 THOC5,THOC5,THOC5,THOC5 EXON Missense_M180V,Missense_M180V,Missense_M180V,Missense_M180V exm1598461 22 29940556 [G/C] NM_001002877,NM_001002878,NM_003678,NM_001002879 THOC5,THOC5,THOC5,THOC5 EXON Missense_L45V,Missense_L45V,Missense_L45V,Missense_L45V exm1598478 22 29956807 [T/C] NM_001202502,NM_003634 NIPSNAP1,NIPSNAP1 EXON Missense_I188V,Missense_I208V exm1598482 22 29957570 [A/G] NM_001202502,NM_003634 NIPSNAP1,NIPSNAP1 EXON Synonymous_L148L,Synonymous_L168L exm1598495 22 29966462 [A/T] NM_001202502,NM_003634 NIPSNAP1,NIPSNAP1 EXON Missense_D33V,Missense_D53V exm1598521 22 30051649 [T/C] NM_181829,NM_000268,NM_181825,NM_181832,NM_181828,NM_181831,NM_181833,NM_016418,NM_181830 NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2 EXON Missense_H154Y,Missense_H195Y,Missense_H195Y,Missense_H195Y,Missense_H153Y,Missense_H112Y,Silent,Missense_H195Y,Missense_H112Y exm1598524 22 30054191 [A/G] NM_181829,NM_000268,NM_181825,NM_181832,NM_181828,NM_181831,NM_181833,NM_016418,NM_181830 NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2 EXON Missense_M164V,Missense_M205V,Missense_M205V,Missense_M205V,Missense_M163V,Missense_M122V,Silent,Missense_M205V,Missense_M122V exm1598551 22 30069367 [A/G] NM_181829,NM_000268,NM_181825,NM_181832,NM_181828,NM_181831,NM_181833,NM_016418,NM_181830 NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2 EXON Missense_R370H,Missense_R411H,Missense_R411H,Missense_R411H,Missense_R369H,Missense_R328H,Silent,Missense_R411H,Missense_R328H exm2235491 22 30070923 [T/C] NM_181829,NM_000268,NM_181825,NM_181832,NM_181828,NM_181831,NM_181833,NM_016418,NM_181830 NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2 EXON Missense_T439M,Missense_T480M,Missense_T480M,Missense_T480M,Missense_T438M,Missense_T397M,Silent,Missense_T480M,Missense_T397M exm1598563 22 30074189 [T/C] NM_181829,NM_000268,NM_181825,NM_181832,NM_181828,NM_181831,NM_181833,NM_016418,NM_181830 NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2 EXON Missense_M443T,Missense_M484T,Missense_M484T,Missense_M484T,Missense_M442T,Missense_M401T,Silent,Missense_M484T,Missense_M401T exm1598568 22 30074278 [A/G] NM_181829,NM_000268,NM_181825,NM_181832,NM_181828,NM_181831,NM_181833,NM_016418,NM_181830 NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2 EXON Missense_M473V,Missense_M514V,Missense_M514V,Missense_M514V,Missense_M472V,Missense_M431V,Silent,Missense_M514V,Missense_M431V exm1598571 22 30077492 [A/G] NM_181829,NM_000268,NM_181825,NM_181832,NM_181828,NM_181831,NM_181833,NM_016418,NM_181830 NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2 EXON Missense_E506K,Missense_E547K,Missense_E547K,Missense_E547K,Missense_E505K,Missense_E464K,Silent,Missense_E547K,Missense_E464K exm1598580 22 30090756 [A/G] NM_181829,NM_000268,NM_181832,NM_181828,NM_181833,NM_016418,NM_181830 NF2,NF2,NF2,NF2,NF2,NF2,NF2 EXON Silent,Missense_A585T,Silent,Silent,Missense_A155T,Silent,Silent exm1598602 22 30125188 [A/G] NM_182527 CABP7 EXON Missense_D171N exm1598606 22 30125490 [A/G] NM_182527 CABP7 EXON Missense_A194T exm1598630 22 30136701 [G/C] NM_001003692,NM_019103 ZMAT5,ZMAT5 EXON Missense_S70C,Missense_S70C exm1598633 22 30138423 [A/C] NM_001003692,NM_019103 ZMAT5,ZMAT5 EXON Missense_R58S,Missense_R58S exm1598634 22 30138468 [A/G] NM_001003692,NM_019103 ZMAT5,ZMAT5 EXON Synonymous_D43D,Synonymous_D43D exm1598650 22 30163410 [C/G] NM_001003684,NM_013387 UQCR10,UQCR10 EXON Missense_S8W,Missense_S8W exm2235494 22 30163425 [T/C] NM_001003684,NM_013387 UQCR10,UQCR10 EXON Missense_L13P,Missense_L13P exm1598654 22 30163526 [A/G] NM_001003684,NM_013387 UQCR10,UQCR10 EXON Missense_I47V,Missense_I47V exm1598659 22 30163571 [A/G] NM_001003684,NM_013387 UQCR10,UQCR10 EXON Missense_A62T,Silent exm1598661 22 30165696 [A/T] NM_001003684,NM_013387 UQCR10,UQCR10 EXON Silent,Nonsense_Y60X exm1598689 22 30189592 [T/C] NM_032204,NM_001242906 ASCC2,ASCC2 EXON Missense_E588K,Missense_E512K exm1598694 22 30189643 [A/G] NM_032204,NM_001242906 ASCC2,ASCC2 EXON Missense_R571W,Missense_R495W exm1598698 22 30197031 [T/C] NM_032204,NM_001242906 ASCC2,ASCC2 EXON Missense_D546G,Missense_D470G exm1598702 22 30197083 [A/G] NM_032204,NM_001242906 ASCC2,ASCC2 EXON Missense_P529S,Missense_P453S exm1598723 22 30200713 [A/G] NM_032204,NM_001242906 ASCC2,ASCC2 EXON Missense_P423S,Missense_P347S exm1598725 22 30200761 [C/G] NM_032204,NM_001242906 ASCC2,ASCC2 EXON Missense_D407H,Missense_D331H exm1598728 22 30200810 [T/C] NM_032204,NM_001242906 ASCC2,ASCC2 EXON Synonymous_T390T,Synonymous_T314T exm1598745 22 30209434 [T/C] NM_032204,NM_001242906 ASCC2,ASCC2 EXON Missense_H273R,Missense_H197R exm1598757 22 30221120 [T/C] NM_032204,NM_001242906 ASCC2,ASCC2 EXON Missense_V123I,Missense_V70I exm1598763 22 30221201 [A/G] NM_032204,NM_001242906 ASCC2,ASCC2 EXON Missense_R96C,Missense_R43C exm1598771 22 30221712 [T/C] NM_032204,NM_001242906 ASCC2,ASCC2 EXON Missense_N47D,Silent exm1598783 22 30228268 [A/G] NM_032204,NM_001242906 ASCC2,ASCC2 EXON Missense_P16L,Missense_P16L exm1598786 22 30228309 [T/C] NM_032204,NM_001242906 ASCC2,ASCC2 EXON Synonymous_P2P,Synonymous_P2P exm-rs36600 22 30337586 [T/C] NM_153050,NM_153051,NM_021090 MTMR3,MTMR3,MTMR3 Silent,Silent,Silent exm1598804 22 30375036 [G/C] NM_153050,NM_153051,NM_021090 MTMR3,MTMR3,MTMR3 EXON Missense_V69L,Missense_V69L,Missense_V69L exm-rs5763662 22 30378703 [T/C] NM_153050,NM_153051,NM_021090 MTMR3,MTMR3,MTMR3 Silent,Silent,Silent exm1598810 22 30387597 [A/G] NM_153050,NM_153051,NM_021090 MTMR3,MTMR3,MTMR3 EXON Missense_H133R,Missense_H133R,Missense_H133R exm1598823 22 30403222 [A/G] NM_153050,NM_153051,NM_021090 MTMR3,MTMR3,MTMR3 EXON Missense_D264G,Missense_D264G,Missense_D264G exm1598825 22 30403279 [A/G] NM_153050,NM_153051,NM_021090 MTMR3,MTMR3,MTMR3 EXON Missense_N283S,Missense_N283S,Missense_N283S exm1598826 22 30403290 [G/C] NM_153050,NM_153051,NM_021090 MTMR3,MTMR3,MTMR3 EXON Missense_L287V,Missense_L287V,Missense_L287V exm1598827 22 30403307 [T/C] NM_153050,NM_153051,NM_021090 MTMR3,MTMR3,MTMR3 EXON Synonymous_F292F,Synonymous_F292F,Synonymous_F292F exm1598830 22 30403941 [A/G] NM_153050,NM_153051,NM_021090 MTMR3,MTMR3,MTMR3 EXON Missense_Q310R,Missense_Q310R,Missense_Q310R exm1598841 22 30409367 [T/C] NM_153050,NM_153051,NM_021090 MTMR3,MTMR3,MTMR3 EXON Missense_M447T,Missense_M447T,Missense_M447T exm1598864 22 30415581 [T/C] NM_153050,NM_153051,NM_021090 MTMR3,MTMR3,MTMR3 EXON Missense_R645W,Missense_R645W,Missense_R645W exm1598865 22 30415665 [C/G] NM_153050,NM_153051,NM_021090 MTMR3,MTMR3,MTMR3 EXON Missense_P673A,Missense_P673A,Missense_P673A exm1598866 22 30415666 [T/C] NM_153050,NM_153051,NM_021090 MTMR3,MTMR3,MTMR3 EXON Missense_P673L,Missense_P673L,Missense_P673L exm1598868 22 30415669 [T/G] NM_153050,NM_153051,NM_021090 MTMR3,MTMR3,MTMR3 EXON Missense_G674V,Missense_G674V,Missense_G674V exm1598873 22 30415812 [T/C] NM_153050,NM_153051,NM_021090 MTMR3,MTMR3,MTMR3 EXON Missense_L722F,Missense_L722F,Missense_L722F exm1598877 22 30415929 [T/C] NM_153050,NM_153051,NM_021090 MTMR3,MTMR3,MTMR3 EXON Missense_F761L,Missense_F761L,Missense_F761L exm1598878 22 30415938 [T/G] NM_153050,NM_153051,NM_021090 MTMR3,MTMR3,MTMR3 EXON Missense_G764C,Missense_G764C,Missense_G764C exm1598881 22 30415983 [T/C] NM_153050,NM_153051,NM_021090 MTMR3,MTMR3,MTMR3 EXON Missense_L779F,Missense_L779F,Missense_L779F exm1598882 22 30416038 [A/G] NM_153050,NM_153051,NM_021090 MTMR3,MTMR3,MTMR3 EXON Missense_R797Q,Missense_R797Q,Missense_R797Q exm1598884 22 30416057 [T/G] NM_153050,NM_153051,NM_021090 MTMR3,MTMR3,MTMR3 EXON Missense_E803D,Missense_E803D,Missense_E803D exm1598887 22 30416107 [A/G] NM_153050,NM_153051,NM_021090 MTMR3,MTMR3,MTMR3 EXON Missense_Y820C,Missense_Y820C,Missense_Y820C exm1598890 22 30416172 [A/G] NM_153050,NM_153051,NM_021090 MTMR3,MTMR3,MTMR3 EXON Missense_V842M,Missense_V842M,Missense_V842M exm1598897 22 30416292 [T/C] NM_153050,NM_153051,NM_021090 MTMR3,MTMR3,MTMR3 EXON Missense_P882S,Missense_P882S,Missense_P882S exm1598901 22 30416383 [A/G] NM_153050,NM_153051,NM_021090 MTMR3,MTMR3,MTMR3 EXON Missense_R912H,Missense_R912H,Missense_R912H exm1598903 22 30416434 [A/G] NM_153050,NM_153051,NM_021090 MTMR3,MTMR3,MTMR3 EXON Missense_N929S,Missense_N929S,Missense_N929S exm1598910 22 30416527 [A/G] NM_153050,NM_153051,NM_021090 MTMR3,MTMR3,MTMR3 EXON Missense_N960S,Missense_N960S,Missense_N960S exm1598918 22 30416725 [T/C] NM_153050,NM_153051,NM_021090 MTMR3,MTMR3,MTMR3 EXON Missense_T1026M,Missense_T1026M,Missense_T1026M exm1598925 22 30418019 [T/C] NM_153050,NM_153051,NM_021090 MTMR3,MTMR3,MTMR3 EXON Silent,Silent,Missense_T1076I exm1598929 22 30418123 [A/G] NM_153050,NM_153051,NM_021090 MTMR3,MTMR3,MTMR3 EXON Silent,Silent,Missense_T1111A exm1598944 22 30421786 [A/T] NM_153050,NM_153051,NM_021090 MTMR3,MTMR3,MTMR3 EXON Missense_N1170I,Missense_N1161I,Missense_N1198I exm1598946 22 30489945 [A/G] NM_152510 HORMAD2 EXON Missense_A2T exm-rs2412971 22 30494371 [A/G] NM_152510 HORMAD2 Silent exm1598947 22 30494847 [G/C] NM_152510 HORMAD2 EXON Missense_V20L exm1598951 22 30494958 [T/C] NM_152510 HORMAD2 EXON Missense_S57P exm1598959 22 30499486 [A/G] NM_152510 HORMAD2 EXON Missense_R85K exm1598961 22 30500401 [A/G] NM_152510 HORMAD2 EXON Missense_C90Y exm1598970 22 30514993 [A/G] NM_152510 HORMAD2 EXON Missense_K123E exm1598974 22 30517650 [A/G] NM_152510 HORMAD2 EXON Missense_G147E exm1598975 22 30517694 [T/C] NM_152510 HORMAD2 EXON Missense_R162C exm1598976 22 30517715 [T/C] NM_152510 HORMAD2 EXON Nonsense_Q169X exm1598990 22 30518166 [A/G] NM_152510 HORMAD2 EXON Missense_G261D exm-rs2412973 22 30529631 [A/C] NM_152510 HORMAD2 Silent exm-rs5753037 22 30581722 [T/C] exm-rs2412980 22 30592069 [T/C] exm-rs713875 22 30592487 [G/C] exm2255082 22 30612949 [A/G] exm1599017 22 30639834 [T/C] NM_002309,NM_001257135 LIF,LIF EXON Missense_A139T,Missense_R79H exm1599026 22 30639969 [T/C] NM_002309,NM_001257135 LIF,LIF EXON Missense_A94T,Missense_R34H exm1599029 22 30639989 [A/G] NM_002309,NM_001257135 LIF,LIF EXON Missense_T87M,Synonymous_D27D exm1599030 22 30639993 [T/C] NM_002309,NM_001257135 LIF,LIF EXON Missense_V86M,Missense_R26H exm2261205 22 30647657 [T/C] exm2005150 22 30659934 [A/G] NM_020530 OSM EXON Missense_R233C exm1599057 22 30660012 [A/G] NM_020530 OSM EXON Missense_R207W exm1599064 22 30660123 [G/C] NM_020530 OSM EXON Missense_R170G exm1599068 22 30660209 [A/G] NM_020530 OSM EXON Missense_P141L exm1599072 22 30660271 [A/G] NM_020530 OSM EXON Synonymous_A120A exm2235502 22 30661028 [T/C] NM_020530 OSM EXON Missense_D47G exm1599090 22 30662763 [A/G] NM_020530 OSM EXON Missense_T9M exm2005202 22 30681647 [C/G] NM_001037666 GATSL3 EXON Missense_E318Q exm1599118 22 30683155 [T/C] NM_001037666 GATSL3 EXON Missense_R165H exm1599132 22 30683439 [A/G] NM_001037666 GATSL3 EXON Missense_R99C exm1599134 22 30683474 [A/G] NM_001037666 GATSL3 EXON Missense_A87V exm1599151 22 30688488 [T/C] NM_031937,NM_001204240 TBC1D10A,TBC1D10A EXON Missense_H468R,Missense_H475R exm2005234 22 30688611 [C/G] NM_031937,NM_001204240 TBC1D10A,TBC1D10A EXON Missense_P427R,Missense_P434R exm1599163 22 30688659 [T/C] NM_031937,NM_001204240 TBC1D10A,TBC1D10A EXON Missense_R411H,Missense_R418H exm1599165 22 30688662 [A/G] NM_031937,NM_001204240 TBC1D10A,TBC1D10A EXON Missense_I410T,Missense_I417T exm1599168 22 30688690 [A/G] NM_031937,NM_001204240 TBC1D10A,TBC1D10A EXON Missense_R401W,Missense_R408W exm1599169 22 30688765 [A/G] NM_031937,NM_001204240 TBC1D10A,TBC1D10A EXON Missense_R376W,Missense_R383W exm1599172 22 30688827 [A/G] NM_031937,NM_001204240 TBC1D10A,TBC1D10A EXON Missense_P355L,Missense_P362L exm1599174 22 30689667 [G/C] NM_031937,NM_001204240 TBC1D10A,TBC1D10A EXON Missense_I341M,Missense_I348M exm2005241 22 30689749 [A/G] NM_031937,NM_001204240 TBC1D10A,TBC1D10A EXON Missense_A314V,Missense_A321V exm2005244 22 30690020 [T/C] NM_031937,NM_001204240 TBC1D10A,TBC1D10A EXON Missense_R262H,Missense_R269H exm1599190 22 30690805 [T/C] NM_031937,NM_001204240 TBC1D10A,TBC1D10A EXON Missense_G229S,Missense_G236S exm1599275 22 30737736 [A/G] NM_001005409,NM_005877 SF3A1,SF3A1 EXON Missense_A274V,Missense_A339V exm2005286 22 30737748 [T/C] NM_001005409,NM_005877 SF3A1,SF3A1 EXON Missense_K270R,Missense_K335R exm1599278 22 30737857 [T/G] NM_001005409,NM_005877 SF3A1,SF3A1 EXON Missense_T234P,Missense_T299P exm1599302 22 30742434 [T/C] NM_001005409,NM_005877 SF3A1,SF3A1 EXON Missense_N87S,Missense_N87S exm1599317 22 30762123 [A/G] NM_001017437 CCDC157 EXON Missense_R45H exm2005305 22 30762125 [A/G] NM_001017437 CCDC157 EXON Missense_M46V exm1599327 22 30762234 [A/G] NM_001017437 CCDC157 EXON Missense_D82G exm1599330 22 30765486 [C/G] NM_001017437,NR_046312 CCDC157,KIAA1656 EXON Missense_P105R,Silent exm2276961 22 30766366 [A/G] NM_001017437,NR_046312 CCDC157,KIAA1656 EXON Missense_E158K,Silent exm1599346 22 30766466 [T/C] NM_001017437,NR_046312 CCDC157,KIAA1656 EXON Missense_P191L,Silent exm1599349 22 30766496 [T/C] NM_001017437,NR_046312 CCDC157,KIAA1656 EXON Missense_T201M,Silent exm1599352 22 30766535 [T/C] NM_001017437,NR_046312 CCDC157,KIAA1656 EXON Missense_I214T,Silent exm1599354 22 30766567 [A/G] NM_001017437,NR_046312 CCDC157,KIAA1656 EXON Missense_A225T,Silent exm1599366 22 30766747 [T/C] NM_001017437,NR_046312 CCDC157,KIAA1656 EXON Missense_R285C,Silent exm1599367 22 30766757 [A/G] NM_001017437,NR_046312 CCDC157,KIAA1656 EXON Missense_K288R,Silent exm1599368 22 30766758 [C/G] NM_001017437,NR_046312 CCDC157,KIAA1656 EXON Missense_K288N,Silent exm1599374 22 30766850 [A/G] NM_001017437,NR_046312 CCDC157,KIAA1656 EXON Missense_K319R,Silent exm1599381 22 30767644 [A/T] NM_001017437,NR_046312 CCDC157,KIAA1656 EXON Missense_S351C,Silent exm1599386 22 30767708 [A/G] NM_001017437,NR_046312 CCDC157,KIAA1656 EXON Missense_Q372R,Silent exm1599389 22 30768072 [T/G] NM_001017437,NR_046312 CCDC157,KIAA1656 EXON Missense_A378S,Silent exm1599391 22 30768124 [T/G] NM_001017437,NR_046312 CCDC157,KIAA1656 EXON Missense_V395G,Silent exm1599407 22 30768265 [A/G] NM_001017437,NR_046312 CCDC157,KIAA1656 EXON Missense_R442H,Silent exm1599413 22 30769605 [A/G] NM_001017437,NR_046312 CCDC157,KIAA1656 EXON Missense_R452Q,Silent exm1599418 22 30769670 [A/G] NM_001017437,NR_046312 CCDC157,KIAA1656 EXON Missense_E474K,Silent exm2235511 22 30769685 [T/C] NM_001017437,NR_046312 CCDC157,KIAA1656 EXON Missense_R479W,Silent exm1599430 22 30769964 [T/C] NM_001017437,NR_046312 CCDC157,KIAA1656 EXON Missense_T519M,Silent exm1599432 22 30769996 [T/C] NM_001017437,NR_046312 CCDC157,KIAA1656 EXON Missense_R530W,Silent exm1599433 22 30769997 [A/G] NM_001017437,NR_046312 CCDC157,KIAA1656 EXON Missense_R530Q,Silent exm1599436 22 30770021 [A/G] NM_001017437,NR_046312 CCDC157,KIAA1656 EXON Missense_R538Q,Silent exm1599437 22 30770027 [A/G] NM_001017437,NR_046312 CCDC157,KIAA1656 EXON Missense_R540Q,Silent exm1599450 22 30771554 [T/G] NM_001017437,NR_046312 CCDC157,KIAA1656 EXON Missense_S587A,Silent exm1599455 22 30771573 [A/G] NM_001017437,NR_046312 CCDC157,KIAA1656 EXON Missense_R593Q,Silent exm2005329 22 30772305 [A/C] NM_001017437,NR_046312 CCDC157,KIAA1656 EXON Missense_P639T,Silent exm1599461 22 30772424 [T/C] NM_001017437,NR_046312 CCDC157,KIAA1656 EXON Missense_P650L,Silent exm1599463 22 30772451 [A/G] NM_001017437,NR_046312 CCDC157,KIAA1656 EXON Missense_S659N,Silent exm2005332 22 30772457 [C/G] NM_001017437,NR_046312 CCDC157,KIAA1656 EXON Missense_T661R,Silent exm1599488 22 30775729 [A/G] NM_001017981 RNF215 EXON Missense_T361I exm1599489 22 30775793 [A/C] NM_001017981 RNF215 EXON Missense_V340L exm1599491 22 30776095 [T/C] NM_001017981 RNF215 EXON Missense_A322T exm1599493 22 30776103 [T/C] NM_001017981 RNF215 EXON Missense_D319G exm1599494 22 30776106 [C/G] NM_001017981 RNF215 EXON Missense_P318R exm1599496 22 30776122 [A/C] NM_001017981 RNF215 EXON Missense_A313S exm1599497 22 30776139 [T/C] NM_001017981 RNF215 EXON Missense_R307H exm2005341 22 30776173 [T/C] NM_001017981 RNF215 EXON Missense_V296M exm1599510 22 30776327 [T/C] NM_001017981 RNF215 EXON Missense_V270M exm1599517 22 30780351 [T/C] NM_001017981 RNF215 EXON Missense_G241R exm1599548 22 30793137 [A/G] NM_001204204,NM_033382,NM_012429 SEC14L2,SEC14L2,SEC14L2 EXON Missense_R11K,Missense_R11K,Missense_R11K exm1599557 22 30795636 [A/G] NM_001204204,NM_033382,NM_012429 SEC14L2,SEC14L2,SEC14L2 EXON Missense_R20Q,Missense_R20Q,Missense_R20Q exm1599560 22 30795706 [A/C] NM_001204204,NM_033382,NM_012429 SEC14L2,SEC14L2,SEC14L2 EXON Synonymous_R43R,Synonymous_R43R,Synonymous_R43R exm1599567 22 30803114 [A/G] NM_001204204,NM_033382,NM_012429 SEC14L2,SEC14L2,SEC14L2 EXON Silent,Missense_D69N,Missense_D69N exm1599568 22 30803123 [A/G] NM_001204204,NM_033382,NM_012429 SEC14L2,SEC14L2,SEC14L2 EXON Silent,Missense_I72V,Missense_I72V exm1599575 22 30803579 [A/G] NM_001204204,NM_033382,NM_012429 SEC14L2,SEC14L2,SEC14L2 EXON Silent,Missense_H137R,Missense_H137R exm2235514 22 30806644 [T/C] NM_001204204,NM_033382,NM_012429 SEC14L2,SEC14L2,SEC14L2 EXON Missense_R131C,Missense_R214C,Missense_R214C exm1599595 22 30812022 [A/G] NM_001204204,NM_033382,NM_012429 SEC14L2,SEC14L2,SEC14L2 EXON Missense_R203H,Missense_R286H,Missense_R286H exm1599648 22 30824621 [A/T] NM_001003704,NM_016498 MTFP1,MTFP1 EXON Missense_D123V,Silent exm-IND22-29154659 22 30824660 [I/D] NM_001003704,NM_016498 MTFP1,MTFP1 EXON exm1599663 22 30856091 [T/C] NM_174975,NM_001257382,NM_001257378,NM_001257379 SEC14L3,SEC14L3,SEC14L3,SEC14L3 EXON Missense_A374T,Missense_A315T,Missense_A297T,Missense_A315T exm1599664 22 30856115 [T/C] NM_174975,NM_001257382,NM_001257378,NM_001257379 SEC14L3,SEC14L3,SEC14L3,SEC14L3 EXON Missense_D366N,Missense_D307N,Missense_D289N,Missense_D307N exm1599665 22 30856121 [A/G] NM_174975,NM_001257382,NM_001257378,NM_001257379 SEC14L3,SEC14L3,SEC14L3,SEC14L3 EXON Missense_R364C,Missense_R305C,Missense_R287C,Missense_R305C exm1599667 22 30857329 [A/T] NM_174975,NM_001257382,NM_001257378,NM_001257379 SEC14L3,SEC14L3,SEC14L3,SEC14L3 EXON Missense_D350V,Missense_D291V,Missense_D273V,Missense_D291V exm1599670 22 30857353 [T/C] NM_174975,NM_001257382,NM_001257378,NM_001257379 SEC14L3,SEC14L3,SEC14L3,SEC14L3 EXON Missense_Y342C,Missense_Y283C,Missense_Y265C,Missense_Y283C exm1599671 22 30857373 [A/C] NM_174975,NM_001257382,NM_001257378,NM_001257379 SEC14L3,SEC14L3,SEC14L3,SEC14L3 EXON Missense_D335E,Missense_D276E,Missense_D258E,Missense_D276E exm1599673 22 30857398 [T/C] NM_174975,NM_001257382,NM_001257378,NM_001257379 SEC14L3,SEC14L3,SEC14L3,SEC14L3 EXON Missense_R327Q,Missense_R268Q,Missense_R250Q,Missense_R268Q exm1599683 22 30857549 [T/C] NM_174975,NM_001257382,NM_001257378,NM_001257379 SEC14L3,SEC14L3,SEC14L3,SEC14L3 EXON Missense_V302I,Missense_V243I,Missense_V225I,Missense_V243I exm1599686 22 30857611 [A/G] NM_174975,NM_001257382,NM_001257378,NM_001257379 SEC14L3,SEC14L3,SEC14L3,SEC14L3 EXON Missense_S281L,Missense_S222L,Missense_S204L,Missense_S222L exm1599695 22 30860830 [T/C] NM_174975,NM_001257382,NM_001257378,NM_001257379 SEC14L3,SEC14L3,SEC14L3,SEC14L3 EXON Missense_R214H,Missense_R155H,Missense_R137H,Missense_R155H exm1599696 22 30860831 [A/G] NM_174975,NM_001257382,NM_001257378,NM_001257379 SEC14L3,SEC14L3,SEC14L3,SEC14L3 EXON Missense_R214C,Missense_R155C,Missense_R137C,Missense_R155C exm1599697 22 30860869 [T/C] NM_174975,NM_001257382,NM_001257378,NM_001257379 SEC14L3,SEC14L3,SEC14L3,SEC14L3 EXON Missense_G201D,Missense_G142D,Missense_G124D,Missense_G142D exm2235516 22 30863040 [T/C] NM_174975,NM_001257382,NM_001257378,NM_001257379 SEC14L3,SEC14L3,SEC14L3,SEC14L3 EXON Missense_V150M,Missense_V91M,Missense_V73M,Missense_V91M exm1599710 22 30864545 [A/T] NM_174975,NM_001257382,NM_001257378,NM_001257379 SEC14L3,SEC14L3,SEC14L3,SEC14L3 EXON Missense_M125L,Missense_M66L,Missense_M48L,Missense_M66L exm1599715 22 30864610 [A/G] NM_174975,NM_001257382,NM_001257378,NM_001257379 SEC14L3,SEC14L3,SEC14L3,SEC14L3 EXON Missense_I103T,Missense_I44T,Missense_I26T,Missense_I44T exm1599716 22 30864621 [T/C] NM_174975,NM_001257382,NM_001257378,NM_001257379 SEC14L3,SEC14L3,SEC14L3,SEC14L3 EXON Nonsense_W99X,Nonsense_W40X,Nonsense_W22X,Nonsense_W40X exm1599717 22 30864655 [A/G] NM_174975,NM_001257382,NM_001257378,NM_001257379 SEC14L3,SEC14L3,SEC14L3,SEC14L3 EXON Missense_L88P,Missense_L29P,Missense_L11P,Missense_L29P exm1599718 22 30864668 [T/G] NM_174975,NM_001257382,NM_001257378,NM_001257379 SEC14L3,SEC14L3,SEC14L3,SEC14L3 EXON Missense_M84L,Missense_M25L,Missense_M7L,Missense_M25L exm1599726 22 30866053 [A/G] NM_174975,NM_001257382,NM_001257378,NM_001257379 SEC14L3,SEC14L3,SEC14L3,SEC14L3 EXON Missense_R63W,Missense_R4W,Silent,Missense_R4W exm1599734 22 30866240 [A/G] NM_174975,NM_001257382,NM_001257378,NM_001257379 SEC14L3,SEC14L3,SEC14L3,SEC14L3 EXON Missense_R45W,Silent,Silent,Silent exm1599739 22 30866497 [A/G] NM_174975,NM_001257382,NM_001257378,NM_001257379 SEC14L3,SEC14L3,SEC14L3,SEC14L3 EXON Nonsense_R43X,Silent,Silent,Silent exm1599740 22 30866506 [A/G] NM_174975,NM_001257382,NM_001257378,NM_001257379 SEC14L3,SEC14L3,SEC14L3,SEC14L3 EXON Missense_R40C,Silent,Silent,Silent exm1599761 22 30886156 [T/C] NM_174977,NM_001161368 SEC14L4,SEC14L4 EXON Missense_D387N,Silent exm1599768 22 30886224 [T/C] NM_174977,NM_001161368 SEC14L4,SEC14L4 EXON Missense_R364H,Silent exm1599769 22 30886233 [A/T] NM_174977,NM_001161368 SEC14L4,SEC14L4 EXON Missense_Y361F,Silent exm2005434 22 30887578 [A/G] NM_174977,NM_001161368 SEC14L4,SEC14L4 EXON Missense_C355R,Missense_C355R exm1599800 22 30888492 [G/C] NM_174977,NM_001161368 SEC14L4,SEC14L4 EXON Missense_E211D,Missense_E211D exm1599801 22 30888494 [T/C] NM_174977,NM_001161368 SEC14L4,SEC14L4 EXON Missense_E211K,Missense_E211K exm1599804 22 30888505 [A/G] NM_174977,NM_001161368 SEC14L4,SEC14L4 EXON Missense_S207L,Missense_S207L exm1599805 22 30888527 [T/C] NM_174977,NM_001161368 SEC14L4,SEC14L4 EXON Missense_V200M,Missense_V200M exm2255086 22 30888528 [A/G] NM_174977,NM_001161368 SEC14L4,SEC14L4 EXON Synonymous_P199P,Synonymous_P199P exm1599812 22 30890926 [A/G] NM_174977,NM_001161368 SEC14L4,SEC14L4 EXON Missense_A149V,Missense_A149V exm1599813 22 30890927 [T/C] NM_174977,NM_001161368 SEC14L4,SEC14L4 EXON Missense_A149T,Missense_A149T exm1599814 22 30890933 [A/C] NM_174977,NM_001161368 SEC14L4,SEC14L4 EXON Nonsense_E147X,Nonsense_E147X exm1599817 22 30891264 [A/C] NM_174977,NM_001161368 SEC14L4,SEC14L4 EXON Nonsense_E134X,Nonsense_E134X exm1599819 22 30891294 [G/C] NM_174977,NM_001161368 SEC14L4,SEC14L4 EXON Missense_R124G,Missense_R124G exm1599822 22 30891300 [A/G] NM_174977,NM_001161368 SEC14L4,SEC14L4 EXON Missense_R122W,Missense_R122W exm1599830 22 30891410 [A/G] NM_174977,NM_001161368 SEC14L4,SEC14L4 EXON Missense_S85L,Missense_S85L exm1599835 22 30891616 [T/C] NM_174977,NM_001161368 SEC14L4,SEC14L4 EXON Missense_R63Q,Missense_R63Q exm1599846 22 30899741 [A/T] NM_174977,NM_001161368 SEC14L4,SEC14L4 Silent,Silent exm1599861 22 30927957 [C/G] NM_001193336 SEC14L6 EXON Missense_A151G exm1599862 22 30927975 [T/C] NM_001193336 SEC14L6 EXON Missense_R145K exm1599865 22 30928620 [G/C] NM_001193336 SEC14L6 EXON Missense_S105R exm1599866 22 30934816 [T/C] NM_001193336 SEC14L6 EXON Missense_Q43R exm1599867 22 30934885 [T/C] NM_001193336 SEC14L6 EXON Missense_R20Q exm1599878 22 30951208 [T/C] NM_004861 GAL3ST1 EXON Missense_R335H exm1599879 22 30951226 [T/C] NM_004861 GAL3ST1 EXON Missense_R329H exm1599891 22 30951482 [G/C] NM_004861 GAL3ST1 EXON Missense_R244G exm1599893 22 30951503 [T/C] NM_004861 GAL3ST1 EXON Missense_E237K exm1599903 22 30951644 [T/C] NM_004861 GAL3ST1 EXON Missense_G190S exm1599906 22 30951709 [T/C] NM_004861 GAL3ST1 EXON Missense_R168H exm1599912 22 30951848 [T/C] NM_004861 GAL3ST1 EXON Missense_A122T exm1599917 22 30951985 [T/C] NM_004861 GAL3ST1 EXON Missense_R76H exm1599918 22 30951999 [C/G] NM_004861 GAL3ST1 EXON Missense_E71D exm2255087 22 30952008 [G/C] NM_004861 GAL3ST1 EXON Synonymous_S68S exm1599922 22 30952019 [T/C] NM_004861 GAL3ST1 EXON Missense_A65T exm1599929 22 30953280 [T/C] NM_004861 GAL3ST1 EXON Missense_V34M exm1599932 22 30953295 [T/C] NM_004861 GAL3ST1 EXON Missense_V29M exm1599937 22 30953352 [T/C] NM_004861 GAL3ST1 EXON Missense_E10K exm1599971 22 30975745 [A/C] NM_001243225,NM_014303,NR_036550 PES1,PES1,PES1 EXON Missense_E444D,Missense_E449D,Silent exm1599980 22 30975882 [T/C] NM_001243225,NM_014303,NR_036550 PES1,PES1,PES1 EXON Missense_A399T,Missense_A404T,Silent exm1599994 22 30976664 [A/G] NM_001243225,NM_014303,NR_036550 PES1,PES1,PES1 EXON Missense_R308C,Missense_R313C,Silent exm1599998 22 30976678 [A/G] NM_001243225,NM_014303,NR_036550 PES1,PES1,PES1 EXON Silent,Missense_A308V,Silent exm1599999 22 30977001 [T/C] NM_001243225,NM_014303,NR_036550 PES1,PES1,PES1 EXON Missense_G304R,Missense_G304R,Silent exm2005519 22 30977014 [C/G] NM_001243225,NM_014303,NR_036550 PES1,PES1,PES1 EXON Missense_E299D,Missense_E299D,Silent exm1600005 22 30977353 [A/T] NM_001243225,NM_014303,NR_036550 PES1,PES1,PES1 EXON Missense_T264S,Missense_T264S,Silent exm2005532 22 30977576 [A/G] NM_001243225,NM_014303,NR_036550 PES1,PES1,PES1 EXON Missense_T229M,Missense_T229M,Silent exm1600033 22 30980679 [A/G] NM_001243225,NM_014303,NR_036550 PES1,PES1,PES1 EXON Missense_R132W,Missense_R132W,Silent exm2255088 22 30980695 [T/C] NM_001243225,NM_014303,NR_036550 PES1,PES1,PES1 EXON Synonymous_T126T,Synonymous_T126T,Silent exm1600038 22 30983274 [A/G] NM_001243225,NM_014303,NR_036550 PES1,PES1,PES1 EXON Missense_R123W,Missense_R123W,Silent exm1600047 22 30984018 [T/C] NM_001243225,NM_014303,NR_036550 PES1,PES1,PES1 EXON Missense_R83H,Missense_R83H,Silent exm1600049 22 30984027 [T/C] NM_001243225,NM_014303,NR_036550 PES1,PES1,PES1 EXON Missense_N80S,Missense_N80S,Silent exm1600069 22 31006860 [A/G] NM_000355,NM_001184726 TCN2,TCN2 EXON Missense_I23V,Missense_I23V exm1600070 22 31006882 [T/G] NM_000355,NM_001184726 TCN2,TCN2 EXON Missense_L30R,Missense_L30R exm1600074 22 31006957 [A/G] NM_000355,NM_001184726 TCN2,TCN2 EXON Missense_Y55C,Missense_Y55C exm1600077 22 31006977 [A/G] NM_000355,NM_001184726 TCN2,TCN2 EXON Missense_S62G,Missense_S62G exm1600079 22 31007023 [A/T] NM_000355,NM_001184726 TCN2,TCN2 EXON Missense_K77M,Missense_K77M exm1600082 22 31008867 [T/C] NM_000355,NM_001184726 TCN2,TCN2 EXON Missense_F89L,Missense_F89L exm1600084 22 31008882 [A/G] NM_000355,NM_001184726 TCN2,TCN2 EXON Missense_G94S,Missense_G94S exm1600085 22 31008898 [A/C] NM_000355,NM_001184726 TCN2,TCN2 EXON Missense_K99T,Missense_K99T exm1600090 22 31009026 [A/G] NM_000355,NM_001184726 TCN2,TCN2 EXON Missense_I142V,Silent exm1600098 22 31010417 [A/G] NM_000355,NM_001184726 TCN2,TCN2 EXON Missense_R170Q,Missense_R143Q exm1600100 22 31010431 [A/G] NM_000355,NM_001184726 TCN2,TCN2 EXON Missense_V175M,Missense_V148M exm1600104 22 31010462 [T/C] NM_000355,NM_001184726 TCN2,TCN2 EXON Missense_P185L,Missense_P158L exm1600108 22 31010480 [A/G] NM_000355,NM_001184726 TCN2,TCN2 EXON Missense_H191R,Missense_H164R exm1600110 22 31011330 [A/G] NM_000355,NM_001184726 TCN2,TCN2 EXON Missense_R208H,Missense_R181H exm1600112 22 31011350 [T/C] NM_000355,NM_001184726 TCN2,TCN2 EXON Missense_R215W,Missense_R188W exm1600124 22 31011610 [G/C] NM_000355,NM_001184726 TCN2,TCN2 EXON Missense_R259P,Missense_R232P exm1600125 22 31011618 [G/C] NM_000355,NM_001184726 TCN2,TCN2 EXON Missense_E262Q,Missense_E235Q exm1600126 22 31011643 [T/C] NM_000355,NM_001184726 TCN2,TCN2 EXON Missense_A270V,Missense_A243V exm2235527 22 31011648 [A/G] NM_000355,NM_001184726 TCN2,TCN2 EXON Missense_V272I,Missense_V245I exm1600141 22 31013374 [T/C] NM_000355,NM_001184726 TCN2,TCN2 EXON Missense_T333M,Missense_T306M exm1600144 22 31013419 [T/C] NM_000355,NM_001184726 TCN2,TCN2 EXON Missense_S348F,Missense_S321F exm1600158 22 31022453 [G/C] NM_000355,NM_001184726 TCN2,TCN2 EXON Missense_A410G,Missense_A383G exm1600160 22 31022461 [A/G] NM_000355,NM_001184726 TCN2,TCN2 EXON Missense_R413G,Missense_R386G exm2005586 22 31032609 [G/C] NM_001001479 SLC35E4 EXON Missense_L58V exm2255089 22 31032704 [A/G] NM_001001479 SLC35E4 EXON Synonymous_V89V exm1600190 22 31042606 [A/G] NM_001001479 SLC35E4 EXON Missense_R214K exm1600192 22 31042632 [A/G] NM_001001479 SLC35E4 EXON Missense_A223T exm1600199 22 31042815 [A/G] NM_001001479 SLC35E4 EXON Missense_V284I exm1600201 22 31042821 [A/G] NM_001001479 SLC35E4 EXON Missense_V286I exm1600202 22 31042833 [A/C] NM_001001479 SLC35E4 EXON Missense_L290I exm1600207 22 31042931 [A/G] NM_001001479 SLC35E4 EXON Missense_M322I exm1600224 22 31059504 [T/C] NM_152511 DUSP18 EXON Missense_T163A exm1600226 22 31059530 [T/C] NM_152511 DUSP18 EXON Missense_Y154C exm1600238 22 31059759 [A/G] NM_152511 DUSP18 EXON Missense_R78C exm1600239 22 31059770 [A/G] NM_152511 DUSP18 EXON Missense_S74F exm1600243 22 31059951 [A/G] NM_152511 DUSP18 EXON Nonsense_Q14X exm2261206 22 31061283 [T/C] NM_152511 DUSP18 Silent exm1600260 22 31091164 [T/C] NM_030758 OSBP2 EXON Missense_P90S exm1600265 22 31091305 [T/C] NM_030758 OSBP2 EXON Missense_L137F exm1600267 22 31091324 [C/G] NM_030758 OSBP2 EXON Missense_S143W exm1600268 22 31091347 [T/C] NM_030758 OSBP2 EXON Missense_P151S exm2005671 22 31091429 [T/C] NM_030758 OSBP2 EXON Missense_A178V exm1600274 22 31091525 [T/G] NM_030758 OSBP2 EXON Missense_L210W exm1600285 22 31137288 [A/G] NM_030758 OSBP2 EXON Missense_R262Q exm1600289 22 31137335 [T/C] NM_030758 OSBP2 EXON Missense_R278C exm1600310 22 31266669 [T/C] NM_030758 OSBP2 EXON Synonymous_N369N exm1600322 22 31283549 [A/G] NM_030758 OSBP2 EXON Missense_R415Q exm1600330 22 31284281 [T/G] NM_030758 OSBP2 EXON Missense_D458Y exm1600334 22 31285190 [G/C] NM_030758 OSBP2 EXON Missense_T482R exm1600336 22 31285477 [A/G] NM_030758 OSBP2 EXON Missense_V493I exm2235531 22 31285495 [A/C] NM_030758 OSBP2 EXON Missense_L499I exm1600339 22 31285526 [C/G] NM_030758 OSBP2 EXON Missense_R509T exm1600369 22 31289891 [A/G] NM_030758 OSBP2 EXON Missense_M760V exm1600370 22 31289894 [T/C] NM_030758 OSBP2 EXON Missense_H761Y exm1600389 22 31302259 [T/C] NM_030758 OSBP2 EXON Missense_V895A exm1600429 22 31328662 [A/C] NM_014941 MORC2 EXON Missense_V811L exm1600454 22 31330855 [T/G] NM_014941 MORC2 EXON Missense_N640K exm1600458 22 31330901 [T/C] NM_014941 MORC2 EXON Missense_R625Q exm1600460 22 31330917 [T/C] NM_014941 MORC2 EXON Missense_V620I exm1600473 22 31331293 [T/C] NM_014941 MORC2 EXON Missense_R523H exm2273028 22 31333631 [T/C] NM_014941 MORC2 EXON Synonymous_P417P exm2005885 22 31337950 [T/C] NM_014941 MORC2 EXON Missense_N147S exm2005890 22 31338196 [A/C] NM_014941 MORC2 EXON Missense_E101D exm2255093 22 31342355 [T/C] NM_014941 MORC2 EXON Synonymous_T71T exm1600523 22 31342429 [T/C] NM_014941 MORC2 EXON Missense_M47V exm1600526 22 31345797 [G/C] NM_014941 MORC2 EXON Missense_K24N exm1600538 22 31479234 [A/G] NM_134270,NM_134269,NM_006932,NM_001207017 SMTN,SMTN,SMTN,SMTN EXON Silent,Silent,Silent,Missense_G51E exm1600553 22 31484035 [G/C] NM_134270,NM_134269,NM_006932,NM_001207017,NM_001207018 SMTN,SMTN,SMTN,SMTN,SMTN EXON Missense_E46Q,Missense_E46Q,Missense_E46Q,Missense_E100Q,Missense_E102Q exm2005935 22 31484930 [T/C] NM_134270,NM_134269,NM_006932,NM_001207017,NM_001207018 SMTN,SMTN,SMTN,SMTN,SMTN EXON Missense_A149V,Missense_A149V,Missense_A149V,Missense_A203V,Missense_A205V exm1600571 22 31485695 [A/G] NM_134270,NM_134269,NM_006932,NM_001207017,NM_001207018 SMTN,SMTN,SMTN,SMTN,SMTN EXON Missense_R161Q,Missense_R161Q,Missense_R161Q,Missense_R215Q,Missense_R217Q exm1600573 22 31485757 [A/C] NM_134270,NM_134269,NM_006932,NM_001207017,NM_001207018 SMTN,SMTN,SMTN,SMTN,SMTN EXON Missense_Q182K,Missense_Q182K,Missense_Q182K,Missense_Q236K,Missense_Q238K exm1600580 22 31485923 [T/C] NM_134270,NM_134269,NM_006932,NM_001207017,NM_001207018 SMTN,SMTN,SMTN,SMTN,SMTN EXON Missense_P237L,Missense_P237L,Missense_P237L,Missense_P291L,Missense_P293L exm1600583 22 31485994 [T/G] NM_134270,NM_134269,NM_006932,NM_001207017,NM_001207018 SMTN,SMTN,SMTN,SMTN,SMTN EXON Missense_V261L,Missense_V261L,Missense_V261L,Missense_V315L,Missense_V317L exm1600600 22 31486985 [T/C] NM_134270,NM_134269,NM_006932,NM_001207017,NM_001207018 SMTN,SMTN,SMTN,SMTN,SMTN EXON Missense_R326W,Missense_R326W,Missense_R326W,Missense_R380W,Missense_R382W exm1600602 22 31486997 [C/G] NM_134270,NM_134269,NM_006932,NM_001207017,NM_001207018 SMTN,SMTN,SMTN,SMTN,SMTN EXON Missense_V330L,Missense_V330L,Missense_V330L,Missense_V384L,Missense_V386L exm1600604 22 31487022 [T/C] NM_134270,NM_134269,NM_006932,NM_001207017,NM_001207018 SMTN,SMTN,SMTN,SMTN,SMTN EXON Missense_T338I,Missense_T338I,Missense_T338I,Missense_T392I,Missense_T394I exm1600615 22 31487159 [T/C] NM_134270,NM_134269,NM_006932,NM_001207017,NM_001207018 SMTN,SMTN,SMTN,SMTN,SMTN EXON Missense_R384W,Missense_R384W,Missense_R384W,Missense_R438W,Missense_R440W exm1600619 22 31487354 [A/G] NM_134270,NM_134269,NM_006932,NM_001207017,NM_001207018 SMTN,SMTN,SMTN,SMTN,SMTN EXON Missense_G449S,Missense_G449S,Missense_G449S,Missense_G503S,Missense_G505S exm1600624 22 31487415 [A/G] NM_134270,NM_134269,NM_006932,NM_001207017,NM_001207018 SMTN,SMTN,SMTN,SMTN,SMTN EXON Missense_R469H,Missense_R469H,Missense_R469H,Missense_R523H,Missense_R525H exm1600626 22 31487679 [A/G] NM_134270,NM_134269,NM_006932,NM_001207017,NM_001207018 SMTN,SMTN,SMTN,SMTN,SMTN EXON Missense_R493Q,Missense_R493Q,Missense_R493Q,Missense_R547Q,Missense_R549Q exm1600628 22 31487682 [T/C] NM_134270,NM_134269,NM_006932,NM_001207017,NM_001207018 SMTN,SMTN,SMTN,SMTN,SMTN EXON Missense_A494V,Missense_A494V,Missense_A494V,Missense_A548V,Missense_A550V exm2255096 22 31487701 [T/C] NM_134270,NM_134269,NM_006932,NM_001207017,NM_001207018 SMTN,SMTN,SMTN,SMTN,SMTN EXON Synonymous_S500S,Synonymous_S500S,Synonymous_S500S,Synonymous_S554S,Synonymous_S556S exm1600633 22 31487706 [A/G] NM_134270,NM_134269,NM_006932,NM_001207017,NM_001207018 SMTN,SMTN,SMTN,SMTN,SMTN EXON Missense_S502N,Missense_S502N,Missense_S502N,Missense_S556N,Missense_S558N exm1600635 22 31487732 [T/C] NM_134270,NM_134269,NM_006932,NM_001207017,NM_001207018 SMTN,SMTN,SMTN,SMTN,SMTN EXON Missense_R511C,Missense_R511C,Missense_R511C,Missense_R565C,Missense_R567C exm1600636 22 31487733 [A/G] NM_134270,NM_134269,NM_006932,NM_001207017,NM_001207018 SMTN,SMTN,SMTN,SMTN,SMTN EXON Missense_R511H,Missense_R511H,Missense_R511H,Missense_R565H,Missense_R567H exm1600641 22 31487814 [A/G] NM_134270,NM_134269,NM_006932,NM_001207017,NM_001207018 SMTN,SMTN,SMTN,SMTN,SMTN EXON Missense_R538Q,Missense_R538Q,Missense_R538Q,Missense_R592Q,Missense_R594Q exm1600670 22 31491332 [T/C] NM_134270,NM_134269,NM_006932,NM_001207017,NM_001207018 SMTN,SMTN,SMTN,SMTN,SMTN EXON Missense_A559V,Missense_A559V,Missense_A559V,Missense_A644V,Missense_A615V exm1600673 22 31491394 [A/G] NM_134270,NM_134269,NM_006932,NM_001207017,NM_001207018 SMTN,SMTN,SMTN,SMTN,SMTN EXON Missense_A580T,Missense_A580T,Missense_A580T,Missense_A665T,Missense_A636T exm1600692 22 31492809 [T/C] NM_134270,NM_134269,NM_006932,NM_001207017,NM_001207018 SMTN,SMTN,SMTN,SMTN,SMTN EXON Missense_T651M,Missense_T651M,Missense_T651M,Missense_T736M,Missense_T707M exm1600693 22 31492816 [C/G] NM_134270,NM_134269,NM_006932,NM_001207017,NM_001207018 SMTN,SMTN,SMTN,SMTN,SMTN EXON Missense_H653Q,Missense_H653Q,Missense_H653Q,Missense_H738Q,Missense_H709Q exm1600702 22 31493031 [A/G] NM_134270,NM_134269,NM_006932,NM_001207017,NM_001207018 SMTN,SMTN,SMTN,SMTN,SMTN EXON Missense_V692M,Missense_V692M,Missense_V692M,Missense_V777M,Missense_V748M exm1600710 22 31493273 [T/C] NM_134270,NM_134269,NM_006932,NM_001207017,NM_001207018 SMTN,SMTN,SMTN,SMTN,SMTN EXON Missense_M703T,Missense_M703T,Missense_M703T,Missense_M788T,Missense_M759T exm1600716 22 31494813 [G/C] NM_134270,NM_134269,NM_006932,NM_001207017,NM_001207018 SMTN,SMTN,SMTN,SMTN,SMTN EXON Missense_E774Q,Missense_E774Q,Missense_E774Q,Missense_E859Q,Missense_E830Q exm2005973 22 31495154 [T/C] NM_134270,NM_134269,NM_006932,NM_001207017,NM_001207018 SMTN,SMTN,SMTN,SMTN,SMTN EXON Missense_R814C,Missense_R814C,Missense_R814C,Missense_R899C,Missense_R870C exm1600728 22 31495849 [A/G] NM_134270,NM_134269,NM_006932,NM_001207017,NM_001207018 SMTN,SMTN,SMTN,SMTN,SMTN EXON Missense_R857H,Missense_R857H,Missense_R857H,Missense_R942H,Missense_R913H exm1600745 22 31500415 [A/G] NM_134270,NM_134269,NM_006932,NM_001207017,NM_001207018 SMTN,SMTN,SMTN,SMTN,SMTN EXON Missense_R929Q,Silent,Missense_R906Q,Missense_R991Q,Silent exm1600749 22 31500991 [A/G] NM_080430 SELM EXON Missense_P135S exm1600758 22 31501206 [G/C] NM_080430 SELM EXON Nonsense_Y89X exm1600808 22 31522435 [A/G] NM_001002837 INPP5J EXON Missense_G81S exm1600809 22 31522450 [A/G] NM_001002837 INPP5J EXON Missense_D86N exm1600822 22 31522949 [A/G] NM_001002837 INPP5J EXON Missense_A145T exm1600823 22 31522977 [A/G] NM_001002837 INPP5J EXON Missense_R154Q exm1600842 22 31524249 [A/G] NM_001002837 INPP5J EXON Missense_G282E exm1600854 22 31524578 [T/C] NM_001002837 INPP5J EXON Missense_R343C exm1600861 22 31529142 [A/G] NM_001002837 INPP5J EXON Missense_R383Q exm1600862 22 31529169 [A/G] NM_001002837 INPP5J EXON Missense_R392H exm1600871 22 31529680 [A/G] NM_001002837 INPP5J EXON Missense_G464S exm1600876 22 31529993 [T/C] NM_001002837 INPP5J EXON Missense_A502V exm1600880 22 31530073 [T/C] NM_001002837 INPP5J EXON Missense_L529F exm1600886 22 31530202 [A/G] NM_001002837 INPP5J EXON Missense_G572R exm1600890 22 31530271 [A/G] NM_001002837 INPP5J EXON Missense_A595T exm1600894 22 31530308 [A/G] NM_001002837 INPP5J EXON Missense_G607D exm1600903 22 31531788 [A/C] NM_015715 PLA2G3 EXON Missense_M484R exm2235543 22 31531789 [T/C] NM_015715 PLA2G3 EXON Missense_M484V exm2277220 22 31531829 [A/G] NM_015715 PLA2G3 EXON Synonymous_D470D exm1600905 22 31531849 [A/G] NM_015715 PLA2G3 EXON Missense_L464F exm1600908 22 31531863 [T/C] NM_015715 PLA2G3 EXON Missense_Q459R exm1600909 22 31531875 [T/C] NM_015715 PLA2G3 EXON Missense_R455Q exm1600914 22 31532697 [A/G] NM_015715 PLA2G3 EXON Missense_P430S exm1600915 22 31532702 [A/G] NM_015715 PLA2G3 EXON Missense_L428P exm1600917 22 31532894 [T/C] NM_015715 PLA2G3 EXON Missense_R400H exm1600918 22 31532895 [A/G] NM_015715 PLA2G3 EXON Missense_R400C exm1600924 22 31532960 [T/C] NM_015715 PLA2G3 EXON Missense_R378Q exm1600929 22 31533020 [T/C] NM_015715 PLA2G3 EXON Missense_R358H exm1600939 22 31533843 [A/G] NM_015715 PLA2G3 EXON Missense_H307Y exm1600940 22 31533854 [T/C] NM_015715 PLA2G3 EXON Missense_R303Q exm1600941 22 31533855 [A/G] NM_015715 PLA2G3 EXON Nonsense_R303X exm1600953 22 31533966 [T/C] NM_015715 PLA2G3 EXON Missense_G266S exm-rs2074739 22 31533967 [A/G] NM_015715 PLA2G3 EXON Synonymous_Y265Y exm1600957 22 31534280 [A/G] NM_015715 PLA2G3 EXON Missense_A255V exm2275189 22 31534756 [A/G] NM_015715 PLA2G3 EXON Missense_R182W exm1600971 22 31535872 [C/G] NM_015715 PLA2G3 EXON Missense_L157V exm1600972 22 31535905 [A/G] NM_015715 PLA2G3 EXON Nonsense_R146X exm1600975 22 31535946 [T/C] NM_015715 PLA2G3 EXON Missense_R132Q exm1600976 22 31535947 [A/G] NM_015715 PLA2G3 EXON Nonsense_R132X exm1600977 22 31535981 [T/C] NM_015715 PLA2G3 EXON Synonymous_A120A exm2255097 22 31535981 [T/C] NM_015715 PLA2G3 EXON Synonymous_A120A exm1600979 22 31535995 [C/G] NM_015715 PLA2G3 EXON Missense_E116Q exm1600983 22 31536074 [T/A] NM_015715 PLA2G3 EXON Missense_H89Q exm1600987 22 31536133 [A/C] NM_015715 PLA2G3 EXON Missense_S70A exm1600993 22 31536232 [T/C] NM_015715 PLA2G3 EXON Missense_V37I exm1601004 22 31583129 [A/G] NR_024210,NR_024209,NR_024211,NR_024212,NM_001135825,NM_152267 RNF185,RNF185,RNF185,RNF185,RNF185,RNF185 EXON Silent,Silent,Silent,Silent,Missense_A17T,Missense_A17T exm1601009 22 31583228 [A/G] NR_024210,NR_024209,NR_024211,NR_024212,NM_001135825,NM_152267 RNF185,RNF185,RNF185,RNF185,RNF185,RNF185 EXON Silent,Silent,Silent,Silent,Missense_V50I,Missense_V50I exm2006062 22 31591512 [A/C] NR_024210,NR_024209,NR_024211,NR_024212,NM_001135825,NM_152267 RNF185,RNF185,RNF185,RNF185,RNF185,RNF185 EXON Silent,Silent,Silent,Silent,Silent,Synonymous_R85R exm1601037 22 31621792 [A/G] NM_005569 LIMK2 EXON Missense_G35S exm-rs2106294 22 31645759 [T/C] NM_005569,NM_016733,NM_001031801 LIMK2,LIMK2,LIMK2 Silent,Silent,Silent exm2235545 22 31654293 [A/G] NM_005569,NM_016733,NM_001031801 LIMK2,LIMK2,LIMK2 EXON Missense_D45N,Missense_D24N,Missense_D24N exm1601054 22 31656011 [A/G] NM_005569,NM_016733,NM_001031801 LIMK2,LIMK2,LIMK2 EXON Missense_V167M,Missense_V146M,Missense_V146M exm1601064 22 31658220 [A/G] NM_005569,NM_016733,NM_001031801 LIMK2,LIMK2,LIMK2 EXON Missense_E218K,Missense_E197K,Missense_E197K exm1601066 22 31658650 [T/C] NM_005569,NM_016733,NM_001031801 LIMK2,LIMK2,LIMK2 EXON Missense_R243C,Missense_R222C,Missense_R222C exm1601068 22 31658677 [T/C] NM_005569,NM_016733,NM_001031801 LIMK2,LIMK2,LIMK2 EXON Missense_R252W,Missense_R231W,Missense_R231W exm1601072 22 31658716 [A/G] NM_005569,NM_016733,NM_001031801 LIMK2,LIMK2,LIMK2 EXON Missense_A265T,Missense_A244T,Missense_A244T exm1601079 22 31661997 [A/G] NM_005569,NM_016733,NM_001031801 LIMK2,LIMK2,LIMK2 EXON Missense_R307H,Missense_R286H,Missense_R286H exm1601095 22 31663885 [T/C] NM_005569,NM_016733,NM_001031801 LIMK2,LIMK2,LIMK2 EXON Missense_R418C,Missense_R397C,Missense_R397C exm1601096 22 31663886 [A/G] NM_005569,NM_016733,NM_001031801 LIMK2,LIMK2,LIMK2 EXON Missense_R418H,Missense_R397H,Missense_R397H exm1601107 22 31668689 [T/C] NM_005569,NM_016733,NM_001031801 LIMK2,LIMK2,LIMK2 EXON Synonymous_N519N,Synonymous_N498N,Synonymous_N498N exm1601150 22 31679110 [G/C] NM_052880,NM_001135911 PIK3IP1,PIK3IP1 EXON Missense_T251S,Silent exm1601151 22 31679114 [T/C] NM_052880,NM_001135911 PIK3IP1,PIK3IP1 EXON Missense_G250S,Silent exm1601152 22 31679158 [G/C] NM_052880,NM_001135911 PIK3IP1,PIK3IP1 EXON Missense_T235S,Silent exm1601159 22 31685338 [T/C] NM_052880,NM_001135911 PIK3IP1,PIK3IP1 EXON Missense_I184V,Silent exm1601183 22 31687065 [T/C] NM_052880,NM_001135911 PIK3IP1,PIK3IP1 EXON Missense_G65S,Missense_G65S exm1601185 22 31687070 [T/C] NM_052880,NM_001135911 PIK3IP1,PIK3IP1 EXON Missense_G63E,Missense_G63E exm1601196 22 31688288 [A/G] NM_052880,NM_001135911 PIK3IP1,PIK3IP1 EXON Missense_L15F,Missense_L15F exm2006150 22 31688312 [T/G] NM_052880,NM_001135911 PIK3IP1,PIK3IP1 EXON Missense_Q7K,Missense_Q7K exm1601201 22 31722884 [T/C] NM_032052,NM_014323,NM_032050 PATZ1,PATZ1,PATZ1 EXON Silent,Missense_G686E,Missense_G640E exm1601202 22 31722886 [T/G] NM_032052,NM_014323,NM_032050 PATZ1,PATZ1,PATZ1 EXON Silent,Missense_E685D,Missense_E639D exm1601218 22 31724813 [A/C] NM_032052,NM_014323,NM_032050 PATZ1,PATZ1,PATZ1 EXON Missense_G514W,Synonymous_G535G,Silent exm1601242 22 31740564 [A/G] NM_032052,NM_014323,NM_032050,NM_032051 PATZ1,PATZ1,PATZ1,PATZ1 EXON Missense_P342L,Missense_P342L,Missense_P342L,Missense_P342L exm1601249 22 31740769 [T/C] NM_032052,NM_014323,NM_032050,NM_032051 PATZ1,PATZ1,PATZ1,PATZ1 EXON Missense_N274D,Missense_N274D,Missense_N274D,Missense_N274D exm2235550 22 31741258 [A/G] NM_032052,NM_014323,NM_032050,NM_032051 PATZ1,PATZ1,PATZ1,PATZ1 EXON Missense_S111P,Missense_S111P,Missense_S111P,Missense_S111P exm1601272 22 31741474 [C/G] NM_032052,NM_014323,NM_032050,NM_032051 PATZ1,PATZ1,PATZ1,PATZ1 EXON Missense_R39G,Missense_R39G,Missense_R39G,Missense_R39G exm1601296 22 31819281 [A/C] NM_004147 DRG1 EXON Missense_L200M exm1601305 22 31829917 [T/C] NM_004147 DRG1 EXON Missense_T355M exm1601317 22 31836002 [A/G] NM_001164502,NM_001164501,NM_019843 EIF4ENIF1,EIF4ENIF1,EIF4ENIF1 EXON Missense_L767P,Missense_L941P,Missense_L941P exm1601319 22 31836042 [T/C] NM_001164502,NM_001164501,NM_019843 EIF4ENIF1,EIF4ENIF1,EIF4ENIF1 EXON Missense_V754M,Missense_V928M,Missense_V928M exm1601329 22 31836842 [A/G] NM_001164502,NM_001164501,NM_019843 EIF4ENIF1,EIF4ENIF1,EIF4ENIF1 EXON Missense_P681L,Missense_P855L,Missense_P855L exm1601336 22 31838014 [A/G] NM_001164502,NM_001164501,NM_019843 EIF4ENIF1,EIF4ENIF1,EIF4ENIF1 EXON Missense_S592L,Missense_S766L,Missense_S766L exm1601349 22 31840638 [T/C] NM_001164502,NM_001164501,NM_019843 EIF4ENIF1,EIF4ENIF1,EIF4ENIF1 EXON Missense_R502Q,Missense_R676Q,Missense_R676Q exm1601353 22 31843478 [T/G] NM_001164502,NM_001164501,NM_019843 EIF4ENIF1,EIF4ENIF1,EIF4ENIF1 EXON Missense_A467E,Missense_A641E,Missense_A641E exm1601362 22 31845460 [T/C] NM_001164502,NM_001164501,NM_019843 EIF4ENIF1,EIF4ENIF1,EIF4ENIF1 EXON Missense_M373V,Missense_M548V,Missense_M548V exm1601363 22 31845490 [A/G] NM_001164502,NM_001164501,NM_019843 EIF4ENIF1,EIF4ENIF1,EIF4ENIF1 EXON Missense_P363S,Missense_P538S,Missense_P538S exm1601365 22 31846341 [T/G] NM_001164502,NM_001164501,NM_019843 EIF4ENIF1,EIF4ENIF1,EIF4ENIF1 EXON Missense_N331K,Missense_N506K,Missense_N506K exm1601378 22 31851148 [A/G] NM_001164502,NM_001164501,NM_019843 EIF4ENIF1,EIF4ENIF1,EIF4ENIF1 EXON Missense_A255V,Missense_A418V,Missense_A418V exm1601383 22 31854559 [G/C] NM_001164502,NM_001164501,NM_019843 EIF4ENIF1,EIF4ENIF1,EIF4ENIF1 EXON Missense_Q126E,Missense_Q289E,Missense_Q289E exm1601391 22 31859102 [A/C] NM_001164502,NM_001164501,NM_019843 EIF4ENIF1,EIF4ENIF1,EIF4ENIF1 EXON Silent,Missense_S201R,Missense_S201R exm1601394 22 31859740 [T/C] NM_001164502,NM_001164501,NM_019843 EIF4ENIF1,EIF4ENIF1,EIF4ENIF1 EXON Silent,Missense_R171H,Missense_R171H exm1601400 22 31859854 [A/G] NM_001164502,NM_001164501,NM_019843 EIF4ENIF1,EIF4ENIF1,EIF4ENIF1 EXON Silent,Missense_S133F,Missense_S133F exm1601406 22 31864245 [A/G] NM_001164502,NM_001164501,NM_019843 EIF4ENIF1,EIF4ENIF1,EIF4ENIF1 EXON Missense_P72S,Missense_P72S,Missense_P72S exm1601411 22 31867903 [T/C] NM_001164502,NM_001164501,NM_019843 EIF4ENIF1,EIF4ENIF1,EIF4ENIF1 EXON Missense_E33K,Missense_E33K,Missense_E33K exm1601427 22 31924729 [A/G] NM_001258325,NM_001258327,NM_001258326,NM_014775,NM_001007467 SFI1,SFI1,SFI1,SFI1,SFI1 EXON Missense_N49S,Silent,Silent,Missense_N49S,Missense_N49S exm1601430 22 31924798 [A/G] NM_001258325,NM_001258327,NM_001258326,NM_014775,NM_001007467 SFI1,SFI1,SFI1,SFI1,SFI1 EXON Missense_R72H,Silent,Silent,Missense_R72H,Missense_R72H exm1601431 22 31924818 [T/C] NM_001258325,NM_001258327,NM_001258326,NM_014775,NM_001007467 SFI1,SFI1,SFI1,SFI1,SFI1 EXON Nonsense_R79X,Silent,Silent,Nonsense_R79X,Nonsense_R79X exm1601437 22 31927079 [G/C] NM_001258325,NM_001258327,NM_001258326,NM_014775,NM_001007467 SFI1,SFI1,SFI1,SFI1,SFI1 EXON Silent,Silent,Silent,Missense_R101P,Missense_R101P exm1601438 22 31942872 [T/C] NM_001258325,NM_001258327,NM_001258326,NM_014775,NM_001007467 SFI1,SFI1,SFI1,SFI1,SFI1 EXON Missense_R98W,Missense_R40W,Missense_R40W,Missense_R122W,Missense_R122W exm2006314 22 31942920 [T/G] NM_001258325,NM_001258327,NM_001258326,NM_014775,NM_001007467 SFI1,SFI1,SFI1,SFI1,SFI1 EXON Nonsense_E114X,Nonsense_E56X,Nonsense_E56X,Nonsense_E138X,Nonsense_E138X exm1601443 22 31942938 [T/C] NM_001258325,NM_001258327,NM_001258326,NM_014775,NM_001007467 SFI1,SFI1,SFI1,SFI1,SFI1 EXON Nonsense_R120X,Nonsense_R62X,Nonsense_R62X,Nonsense_R144X,Nonsense_R144X exm1601454 22 31946325 [A/G] NM_001258325,NM_001258327,NM_001258326,NM_014775,NM_001007467 SFI1,SFI1,SFI1,SFI1,SFI1 EXON Missense_E155K,Missense_E97K,Missense_E97K,Missense_E179K,Missense_E179K exm1601455 22 31946334 [A/G] NM_001258325,NM_001258327,NM_001258326,NM_014775,NM_001007467 SFI1,SFI1,SFI1,SFI1,SFI1 EXON Missense_D158N,Missense_D100N,Missense_D100N,Missense_D182N,Missense_D182N exm1601457 22 31952937 [A/G] NM_001258325,NM_001258327,NM_001258326,NM_014775,NM_001007467 SFI1,SFI1,SFI1,SFI1,SFI1 EXON Missense_Q161R,Missense_Q103R,Missense_Q103R,Missense_Q185R,Missense_Q185R exm1601470 22 31957358 [A/G] NM_001258325,NM_001258327,NM_001258326,NM_014775,NM_001007467 SFI1,SFI1,SFI1,SFI1,SFI1 EXON Missense_A225T,Missense_A167T,Missense_A167T,Missense_A249T,Missense_A249T exm1601473 22 31969098 [A/G] NM_001258325,NM_001258327,NM_001258326,NM_014775,NM_001007467 SFI1,SFI1,SFI1,SFI1,SFI1 EXON Missense_V250I,Missense_V192I,Missense_V192I,Missense_V274I,Missense_V274I exm2235555 22 31969110 [A/G] NM_001258325,NM_001258327,NM_001258326,NM_014775,NM_001007467 SFI1,SFI1,SFI1,SFI1,SFI1 EXON Missense_V254M,Missense_V196M,Missense_V196M,Missense_V278M,Missense_V278M exm1601474 22 31969137 [T/C] NM_001258325,NM_001258327,NM_001258326,NM_014775,NM_001007467 SFI1,SFI1,SFI1,SFI1,SFI1 EXON Missense_R263W,Missense_R205W,Missense_R205W,Missense_R287W,Missense_R287W exm1601476 22 31969182 [A/G] NM_001258325,NM_001258327,NM_001258326,NM_014775,NM_001007467 SFI1,SFI1,SFI1,SFI1,SFI1 EXON Missense_V278M,Missense_V220M,Missense_V220M,Missense_V302M,Missense_V302M exm1601481 22 31971258 [T/C] NM_001258325,NM_001258327,NM_001258326,NM_014775,NM_001007467 SFI1,SFI1,SFI1,SFI1,SFI1 EXON Missense_Y298H,Missense_Y240H,Missense_Y240H,Missense_Y322H,Missense_Y322H exm1601482 22 31971282 [T/C] NM_001258325,NM_001258327,NM_001258326,NM_014775,NM_001007467 SFI1,SFI1,SFI1,SFI1,SFI1 EXON Missense_W306R,Missense_W248R,Missense_W248R,Missense_W330R,Missense_W330R exm1601483 22 31971288 [T/C] NM_001258325,NM_001258327,NM_001258326,NM_014775,NM_001007467 SFI1,SFI1,SFI1,SFI1,SFI1 EXON Missense_R308W,Missense_R250W,Missense_R250W,Missense_R332W,Missense_R332W exm1601486 22 31971351 [T/C] NM_001258325,NM_001258327,NM_001258326,NM_014775,NM_001007467 SFI1,SFI1,SFI1,SFI1,SFI1 EXON Missense_R329W,Missense_R271W,Missense_R271W,Missense_R353W,Missense_R353W exm1601492 22 31974397 [A/C] NM_001258325,NM_001258327,NM_001258326,NM_014775,NM_001007467 SFI1,SFI1,SFI1,SFI1,SFI1 EXON Missense_Q348K,Missense_Q290K,Missense_Q290K,Missense_Q372K,Missense_Q372K exm1601509 22 31979937 [T/A] NM_001258325,NM_001258327,NM_001258326,NM_014775,NM_001007467 SFI1,SFI1,SFI1,SFI1,SFI1 EXON Missense_H387L,Missense_H360L,Missense_H360L,Missense_H411L,Missense_H442L exm1601517 22 31985449 [T/C] NM_001258325,NM_001258327,NM_001258326,NM_014775,NM_001007467 SFI1,SFI1,SFI1,SFI1,SFI1 EXON Missense_A422V,Missense_A395V,Missense_A395V,Missense_A446V,Missense_A477V exm1601530 22 31998263 [A/G] NM_001258325,NM_001258327,NM_001258326,NM_014775,NM_001007467 SFI1,SFI1,SFI1,SFI1,SFI1 EXON Missense_R482H,Missense_R455H,Missense_R455H,Missense_R506H,Missense_R537H exm1601532 22 31998612 [A/G] NM_001258325,NM_001258327,NM_001258326,NM_014775,NM_001007467 SFI1,SFI1,SFI1,SFI1,SFI1 EXON Missense_R494Q,Missense_R467Q,Missense_R467Q,Missense_R518Q,Missense_R549Q exm2006374 22 32000307 [T/C] NM_001258325,NM_001258327,NM_001258326,NM_014775,NM_001007467 SFI1,SFI1,SFI1,SFI1,SFI1 EXON Missense_R577W,Missense_R550W,Missense_R550W,Missense_R601W,Missense_R632W exm1601546 22 32000873 [T/C] NM_001258325,NM_001258327,NM_001258326,NM_014775,NM_001007467 SFI1,SFI1,SFI1,SFI1,SFI1 EXON Nonsense_R611X,Nonsense_R584X,Nonsense_R584X,Nonsense_R635X,Nonsense_R666X exm1601547 22 32000898 [A/C] NM_001258325,NM_001258327,NM_001258326,NM_014775,NM_001007467 SFI1,SFI1,SFI1,SFI1,SFI1 EXON Missense_A619D,Missense_A592D,Missense_A592D,Missense_A643D,Missense_A674D exm1601548 22 32000909 [T/C] NM_001258325,NM_001258327,NM_001258326,NM_014775,NM_001007467 SFI1,SFI1,SFI1,SFI1,SFI1 EXON Nonsense_Q623X,Nonsense_Q596X,Nonsense_Q596X,Nonsense_Q647X,Nonsense_Q678X exm1601551 22 32000930 [T/C] NM_001258325,NM_001258327,NM_001258326,NM_014775,NM_001007467 SFI1,SFI1,SFI1,SFI1,SFI1 EXON Missense_R630C,Missense_R603C,Missense_R603C,Missense_R654C,Missense_R685C exm2006378 22 32002351 [G/C] NM_001258325,NM_001258327,NM_001258326,NM_014775,NM_001007467 SFI1,SFI1,SFI1,SFI1,SFI1 EXON Missense_R643G,Missense_R616G,Missense_R616G,Missense_R667G,Missense_R698G exm1601567 22 32003939 [A/G] NM_001258325,NM_001258327,NM_001258326,NM_014775,NM_001007467 SFI1,SFI1,SFI1,SFI1,SFI1 EXON Missense_R670Q,Missense_R631Q,Missense_R643Q,Missense_R694Q,Missense_R725Q exm1601575 22 32007153 [A/G] NM_001258325,NM_001258327,NM_001258326,NM_014775,NM_001007467 SFI1,SFI1,SFI1,SFI1,SFI1 EXON Missense_R705H,Missense_R666H,Missense_R678H,Missense_R729H,Missense_R760H exm2006385 22 32007224 [A/C] NM_001258325,NM_001258327,NM_001258326,NM_014775,NM_001007467 SFI1,SFI1,SFI1,SFI1,SFI1 EXON Synonymous_R729R,Synonymous_R690R,Synonymous_R702R,Synonymous_R753R,Synonymous_R784R exm1601578 22 32007264 [T/A] NM_001258325,NM_001258327,NM_001258326,NM_014775,NM_001007467 SFI1,SFI1,SFI1,SFI1,SFI1 EXON Missense_H742L,Missense_H703L,Missense_H715L,Missense_H766L,Missense_H797L exm1601581 22 32007810 [A/G] NM_001258325,NM_001258327,NM_001258326,NM_014775,NM_001007467 SFI1,SFI1,SFI1,SFI1,SFI1 EXON Missense_R770H,Missense_R731H,Missense_R743H,Missense_R794H,Missense_R825H exm1601584 22 32009153 [A/G] NM_001258325,NM_001258327,NM_001258326,NM_014775,NM_001007467 SFI1,SFI1,SFI1,SFI1,SFI1 EXON Missense_R784Q,Missense_R745Q,Missense_R757Q,Missense_R808Q,Missense_R839Q exm1601595 22 32009612 [A/G] NM_001258325,NM_001258327,NM_001258326,NM_014775,NM_001007467 SFI1,SFI1,SFI1,SFI1,SFI1 EXON Missense_V868I,Missense_V829I,Missense_V841I,Missense_V892I,Missense_V923I exm1601603 22 32009727 [A/G] NM_001258325,NM_001258327,NM_001258326,NM_014775,NM_001007467 SFI1,SFI1,SFI1,SFI1,SFI1 EXON Missense_N906S,Missense_N867S,Missense_N879S,Missense_N930S,Missense_N961S exm1601604 22 32009730 [A/G] NM_001258325,NM_001258327,NM_001258326,NM_014775,NM_001007467 SFI1,SFI1,SFI1,SFI1,SFI1 EXON Missense_R907H,Missense_R868H,Missense_R880H,Missense_R931H,Missense_R962H exm1601615 22 32010834 [T/C] NM_001258325,NM_001258327,NM_001258326,NM_014775,NM_001007467 SFI1,SFI1,SFI1,SFI1,SFI1 EXON Missense_A964V,Missense_A925V,Missense_A937V,Missense_A988V,Missense_A1019V exm1601621 22 32011225 [T/C] NM_001258325,NM_001258327,NM_001258326,NM_014775,NM_001007467 SFI1,SFI1,SFI1,SFI1,SFI1 EXON Missense_L1032P,Missense_L993P,Missense_L1005P,Missense_L1056P,Missense_L1087P exm1601622 22 32011234 [T/C] NM_001258325,NM_001258327,NM_001258326,NM_014775,NM_001007467 SFI1,SFI1,SFI1,SFI1,SFI1 EXON Missense_F1035S,Missense_F996S,Missense_F1008S,Missense_F1059S,Missense_F1090S exm1601638 22 32014112 [A/G] NM_001258325,NM_001258327,NM_001258326,NM_014775,NM_001007467 SFI1,SFI1,SFI1,SFI1,SFI1 EXON Missense_R1120Q,Missense_R1081Q,Missense_R1093Q,Missense_R1144Q,Missense_R1175Q exm1601650 22 32014366 [A/G] NM_001258325,NM_001258327,NM_001258326,NM_014775,NM_001007467 SFI1,SFI1,SFI1,SFI1,SFI1 EXON Missense_V1176I,Missense_V1137I,Missense_V1149I,Missense_V1200I,Missense_V1231I exm1601651 22 32014373 [A/G] NM_001258325,NM_001258327,NM_001258326,NM_014775,NM_001007467 SFI1,SFI1,SFI1,SFI1,SFI1 EXON Missense_R1178H,Missense_R1139H,Missense_R1151H,Missense_R1202H,Missense_R1233H exm1601661 22 32015712 [A/G] NM_014338 PISD EXON Synonymous_G338G exm1601662 22 32015741 [C/G] NM_014338 PISD EXON Missense_V329L exm1601663 22 32015742 [A/G] NM_014338 PISD EXON Synonymous_G328G exm1601664 22 32015765 [C/G] NM_014338 PISD EXON Missense_V321L exm1601671 22 32016541 [A/G] NM_014338 PISD EXON Missense_R301W exm1601673 22 32016621 [A/G] NM_014338 PISD EXON Missense_T274M exm1601678 22 32016996 [T/C] NM_014338 PISD EXON Missense_R243Q exm1601688 22 32017350 [T/C] NM_014338 PISD EXON Missense_M189V exm1601689 22 32017352 [A/C] NM_014338 PISD EXON Missense_R188L exm1601703 22 32017670 [T/G] NM_014338 PISD EXON Missense_P141T exm2235560 22 32017778 [T/C] NM_014338 PISD EXON Missense_V105I exm1601715 22 32019696 [A/G] NM_014338 PISD EXON Missense_R65W exm2006444 22 32019741 [T/C] NM_014338 PISD EXON Missense_V50I exm1601722 22 32019806 [T/C] NM_014338 PISD EXON Missense_R28Q exm1601728 22 32021758 [A/G] NM_014338 PISD EXON Missense_A15V exm2235561 22 32021779 [T/C] NM_014338 PISD EXON Missense_R8Q exm-rs6518754 22 32097775 [T/C] NM_173566 PRR14L Silent exm1601783 22 32100678 [T/C] NM_173566 PRR14L EXON Missense_M1931V exm1601786 22 32100705 [T/C] NM_173566 PRR14L EXON Missense_M1922V exm1601793 22 32108345 [T/C] NM_173566 PRR14L EXON Missense_C1827Y exm1601796 22 32108475 [T/C] NM_173566 PRR14L EXON Missense_V1784I exm1601797 22 32108481 [T/C] NM_173566 PRR14L EXON Missense_T1782A exm2235563 22 32108633 [A/G] NM_173566 PRR14L EXON Missense_T1731M exm1601803 22 32108738 [A/C] NM_173566 PRR14L EXON Missense_I1696S exm1601809 22 32108997 [T/C] NM_173566 PRR14L EXON Missense_T1610A exm1601815 22 32109300 [A/C] NM_173566 PRR14L EXON Missense_A1509S exm1601816 22 32109305 [T/C] NM_173566 PRR14L EXON Missense_H1507R exm2235564 22 32109788 [A/G] NM_173566 PRR14L EXON Missense_L1346P exm1601829 22 32109879 [T/C] NM_173566 PRR14L EXON Missense_E1316K exm1601831 22 32109911 [T/C] NM_173566 PRR14L EXON Missense_E1305G exm1601832 22 32109927 [T/C] NM_173566 PRR14L EXON Missense_V1300I exm1601836 22 32110163 [A/G] NM_173566 PRR14L EXON Missense_S1221L exm1601839 22 32110374 [A/G] NM_173566 PRR14L EXON Missense_S1151P exm1601842 22 32110562 [A/G] NM_173566 PRR14L EXON Missense_F1088S exm2235565 22 32110926 [C/G] NM_173566 PRR14L EXON Missense_D967H exm1601849 22 32110938 [T/C] NM_173566 PRR14L EXON Missense_D963N exm1601850 22 32110943 [A/G] NM_173566 PRR14L EXON Missense_T961I exm1601851 22 32110988 [A/G] NM_173566 PRR14L EXON Missense_P946L exm2255102 22 32111149 [C/G] NM_173566 PRR14L EXON Synonymous_T892T exm1601855 22 32111149 [C/G] NM_173566 PRR14L EXON Synonymous_T892T exm1601862 22 32111362 [T/C] NM_173566 PRR14L EXON Missense_I821M exm1601864 22 32111442 [T/C] NM_173566 PRR14L EXON Missense_V795I exm1601865 22 32111456 [T/C] NM_173566 PRR14L EXON Missense_R790H exm1601868 22 32111606 [A/G] NM_173566 PRR14L EXON Missense_L740P exm1601885 22 32112461 [T/C] NM_173566 PRR14L EXON Missense_N455S exm1601892 22 32112866 [T/C] NM_173566 PRR14L EXON Missense_N320S exm1601905 22 32113269 [A/C] NM_173566 PRR14L EXON Missense_V186L exm1601928 22 32161029 [A/G] NM_001242897,NM_014662,NM_001242896,NM_001007188,NM_001136029 DEPDC5,DEPDC5,DEPDC5,DEPDC5,DEPDC5 EXON Missense_N88D,Missense_N88D,Missense_N88D,Missense_N88D,Missense_N88D exm1601943 22 32180846 [A/G] NM_001242897,NM_014662,NM_001242896,NM_001007188,NM_001136029 DEPDC5,DEPDC5,DEPDC5,DEPDC5,DEPDC5 EXON Synonymous_L203L,Synonymous_L203L,Synonymous_L203L,Synonymous_L203L,Synonymous_L203L exm1601949 22 32188784 [T/G] NM_001242897,NM_014662,NM_001242896,NM_001007188,NM_001136029 DEPDC5,DEPDC5,DEPDC5,DEPDC5,DEPDC5 EXON Missense_F250V,Missense_F250V,Missense_F250V,Missense_F250V,Missense_F250V exm1601951 22 32193632 [A/G] NM_001242897,NM_014662,NM_001242896,NM_001007188,NM_001136029 DEPDC5,DEPDC5,DEPDC5,DEPDC5,DEPDC5 EXON Missense_V272I,Missense_V272I,Missense_V272I,Missense_V272I,Missense_V272I exm1601953 22 32194581 [A/G] NM_001242897,NM_014662,NM_001242896,NM_001007188,NM_001136029 DEPDC5,DEPDC5,DEPDC5,DEPDC5,DEPDC5 EXON Synonymous_Q295Q,Synonymous_Q295Q,Synonymous_Q295Q,Synonymous_Q295Q,Synonymous_Q295Q exm1601955 22 32198711 [A/G] NM_001242897,NM_014662,NM_001242896,NM_001007188,NM_001136029 DEPDC5,DEPDC5,DEPDC5,DEPDC5,DEPDC5 EXON Missense_N323S,Missense_N323S,Missense_N323S,Missense_N323S,Missense_N323S exm1601962 22 32200849 [T/C] NM_001242897,NM_014662,NM_001242896,NM_001007188,NM_001136029 DEPDC5,DEPDC5,DEPDC5,DEPDC5,DEPDC5 EXON Missense_R389C,Missense_R389C,Missense_R389C,Missense_R389C,Missense_R389C exm1601969 22 32205599 [T/C] NM_001242897,NM_014662,NM_001242896,NM_001007188,NM_001136029 DEPDC5,DEPDC5,DEPDC5,DEPDC5,DEPDC5 EXON Synonymous_P430P,Synonymous_P430P,Synonymous_P430P,Synonymous_P430P,Synonymous_P430P exm1601971 22 32205630 [A/G] NM_001242897,NM_014662,NM_001242896,NM_001007188,NM_001136029 DEPDC5,DEPDC5,DEPDC5,DEPDC5,DEPDC5 EXON Missense_T441A,Missense_T441A,Missense_T441A,Missense_T441A,Missense_T441A exm1601972 22 32205632 [A/C] NM_001242897,NM_014662,NM_001242896,NM_001007188,NM_001136029 DEPDC5,DEPDC5,DEPDC5,DEPDC5,DEPDC5 EXON Synonymous_T441T,Synonymous_T441T,Synonymous_T441T,Synonymous_T441T,Synonymous_T441T exm1601973 22 32206512 [A/G] NM_001242897,NM_014662,NM_001242896,NM_001007188,NM_001136029 DEPDC5,DEPDC5,DEPDC5,DEPDC5,DEPDC5 EXON Missense_G444R,Missense_G444R,Missense_G444R,Missense_G444R,Missense_G444R exm1601976 22 32206537 [T/C] NM_001242897,NM_014662,NM_001242896,NM_001007188,NM_001136029 DEPDC5,DEPDC5,DEPDC5,DEPDC5,DEPDC5 EXON Missense_A452V,Missense_A452V,Missense_A452V,Missense_A452V,Missense_A452V exm1601979 22 32211004 [C/G] NM_001242897,NM_014662,NM_001242896,NM_001007188,NM_001136029 DEPDC5,DEPDC5,DEPDC5,DEPDC5,DEPDC5 EXON Missense_S491T,Missense_S491T,Missense_S491T,Missense_S491T,Missense_S491T exm1601981 22 32211057 [T/C] NM_001242897,NM_014662,NM_001242896,NM_001007188,NM_001136029 DEPDC5,DEPDC5,DEPDC5,DEPDC5,DEPDC5 EXON Missense_R509C,Missense_R509C,Missense_R509C,Missense_R509C,Missense_R509C exm1602003 22 32217539 [T/C] NM_001242897,NM_014662,NM_001242896,NM_001136029 DEPDC5,DEPDC5,DEPDC5,DEPDC5 EXON Silent,Missense_A641V,Missense_A641V,Missense_A641V exm1602008 22 32218692 [T/C] NM_001242897,NM_014662,NM_001242896,NM_001136029 DEPDC5,DEPDC5,DEPDC5,DEPDC5 EXON Silent,Missense_R674C,Missense_R674C,Missense_R674C exm1602010 22 32218727 [A/C] NM_001242897,NM_014662,NM_001242896,NM_001136029 DEPDC5,DEPDC5,DEPDC5,DEPDC5 EXON Silent,Missense_F685L,Missense_F685L,Missense_F685L exm1602011 22 32218744 [T/C] NM_001242897,NM_014662,NM_001242896,NM_001136029 DEPDC5,DEPDC5,DEPDC5,DEPDC5 EXON Silent,Missense_L691P,Missense_L691P,Missense_L691P exm1602012 22 32218747 [T/C] NM_001242897,NM_014662,NM_001242896,NM_001136029 DEPDC5,DEPDC5,DEPDC5,DEPDC5 EXON Silent,Missense_S692F,Missense_S692F,Missense_S692F exm2268416 22 32220680 [A/G] NM_001242897,NM_014662,NM_001242896,NM_001136029 DEPDC5,DEPDC5,DEPDC5,DEPDC5 Silent,Silent,Silent,Silent exm1602013 22 32229931 [T/C] NM_001242897,NM_014662,NM_001242896,NM_001136029 DEPDC5,DEPDC5,DEPDC5,DEPDC5 EXON Missense_S634F,Missense_S712F,Missense_S712F,Missense_S712F exm1602021 22 32233028 [G/C] NM_001242897,NM_014662,NM_001242896,NM_001136029 DEPDC5,DEPDC5,DEPDC5,DEPDC5 EXON Synonymous_L669L,Synonymous_L738L,Synonymous_L747L,Synonymous_L738L exm1602032 22 32239669 [C/G] NM_001242897,NM_014662,NM_001242896,NM_001136029 DEPDC5,DEPDC5,DEPDC5,DEPDC5 EXON Missense_S813T,Missense_S882T,Missense_S891T,Missense_S882T exm1602035 22 32239739 [A/G] NM_001242897,NM_014662,NM_001242896,NM_001136029 DEPDC5,DEPDC5,DEPDC5,DEPDC5 EXON Synonymous_E836E,Synonymous_E905E,Synonymous_E914E,Synonymous_E905E exm1602037 22 32239781 [T/C] NM_001242897,NM_014662,NM_001242896,NM_001136029 DEPDC5,DEPDC5,DEPDC5,DEPDC5 EXON Synonymous_A850A,Synonymous_A919A,Synonymous_A928A,Synonymous_A919A exm1602040 22 32241058 [T/C] NM_001242897,NM_014662,NM_001242896,NM_001136029 DEPDC5,DEPDC5,DEPDC5,DEPDC5 EXON Synonymous_C874C,Synonymous_C943C,Synonymous_C952C,Synonymous_C943C exm1602041 22 32241106 [T/C] NM_001242897,NM_014662,NM_001242896,NM_001136029 DEPDC5,DEPDC5,DEPDC5,DEPDC5 EXON Synonymous_I890I,Synonymous_I959I,Synonymous_I968I,Synonymous_I959I exm2006572 22 32241198 [A/G] NM_001242897,NM_014662,NM_001242896,NM_001136029 DEPDC5,DEPDC5,DEPDC5,DEPDC5 EXON Missense_R921Q,Missense_R990Q,Missense_R999Q,Missense_R990Q exm1602045 22 32241218 [T/A] NM_001242897,NM_014662,NM_001242896,NM_001136029 DEPDC5,DEPDC5,DEPDC5,DEPDC5 EXON Missense_M928L,Missense_M997L,Missense_M1006L,Missense_M997L exm1602051 22 32242953 [A/G] NM_001242897,NM_014662,NM_001242896,NM_001136029 DEPDC5,DEPDC5,DEPDC5,DEPDC5 EXON Missense_K974R,Missense_K1043R,Missense_K1052R,Missense_K1043R exm1602055 22 32253516 [A/C] NM_001242897,NM_014662,NM_001242896,NM_001136029 DEPDC5,DEPDC5,DEPDC5,DEPDC5 EXON Missense_T1003P,Missense_T1072P,Missense_T1081P,Missense_T1072P exm1602058 22 32257400 [T/C] NM_001242897,NM_014662,NM_001242896,NM_001136029 DEPDC5,DEPDC5,DEPDC5,DEPDC5 EXON Silent,Silent,Missense_S1104L,Missense_S1095L exm2261209 22 32263131 [T/C] NM_001242897,NM_014662,NM_001242896,NM_001136029 DEPDC5,DEPDC5,DEPDC5,DEPDC5 Silent,Silent,Silent,Silent exm-rs1012068 22 32265903 [T/G] NM_001242897,NM_014662,NM_001242896,NM_001136029 DEPDC5,DEPDC5,DEPDC5,DEPDC5 Silent,Silent,Silent,Silent exm1602066 22 32266603 [A/G] NM_001242897,NM_014662,NM_001242896,NM_001136029 DEPDC5,DEPDC5,DEPDC5,DEPDC5 EXON Missense_M1020V,Missense_M1089V,Missense_M1120V,Missense_M1111V exm1602073 22 32270262 [A/G] NM_001242897,NM_014662,NM_001242896,NM_001136029 DEPDC5,DEPDC5,DEPDC5,DEPDC5 EXON Synonymous_T1089T,Synonymous_T1158T,Synonymous_T1189T,Synonymous_T1180T exm1602080 22 32270338 [A/G] NM_001242897,NM_014662,NM_001242896,NM_001136029 DEPDC5,DEPDC5,DEPDC5,DEPDC5 EXON Missense_V1115M,Missense_V1184M,Missense_V1215M,Missense_V1206M exm1602083 22 32270378 [T/C] NM_001242897,NM_014662,NM_001242896,NM_001136029 DEPDC5,DEPDC5,DEPDC5,DEPDC5 EXON Missense_I1128T,Missense_I1197T,Missense_I1228T,Missense_I1219T exm1602088 22 32275515 [T/C] NM_001242897,NM_014662,NM_001242896,NM_001136029 DEPDC5,DEPDC5,DEPDC5,DEPDC5 EXON Synonymous_A1170A,Synonymous_A1239A,Synonymous_A1270A,Synonymous_A1261A exm1602089 22 32275541 [A/G] NM_001242897,NM_014662,NM_001242896,NM_001136029 DEPDC5,DEPDC5,DEPDC5,DEPDC5 EXON Missense_H1179R,Missense_H1248R,Missense_H1279R,Missense_H1270R exm1602109 22 32302045 [T/C] NM_001242897,NM_014662,NM_001242896,NM_001136029 DEPDC5,DEPDC5,DEPDC5,DEPDC5 EXON Synonymous_H1404H,Synonymous_H1473H,Synonymous_H1504H,Synonymous_H1495H exm1602131 22 32330271 [T/C] NM_015372 C22orf24 EXON Missense_A106T exm1602134 22 32330282 [G/C] NM_015372 C22orf24 EXON Missense_P102R exm1602141 22 32333967 [T/G] NM_015372 C22orf24 EXON Missense_N29T exm1602143 22 32333988 [C/G] NM_015372 C22orf24 EXON Missense_P22R exm1602145 22 32334021 [A/T] NM_015372 C22orf24 EXON Missense_H11L exm1602151 22 32352154 [A/G] NM_003405 YWHAH EXON Missense_N39S exm1602204 22 32439303 [T/C] NM_000343 SLC5A1 EXON Missense_A12V exm1602207 22 32439318 [T/C] NM_000343 SLC5A1 EXON Missense_V17A exm1602208 22 32439338 [T/C] NM_000343 SLC5A1 EXON Missense_R24C exm2235572 22 32439365 [A/G] NM_000343 SLC5A1 EXON Missense_V33I exm1602213 22 32445946 [A/G] NM_000343 SLC5A1 EXON Missense_N51S exm1602228 22 32479102 [T/G] NM_000343,NM_001256314 SLC5A1,SLC5A1 EXON Missense_V209L,Missense_V82L exm1602240 22 32480623 [T/G] NM_000343,NM_001256314 SLC5A1,SLC5A1 EXON Missense_L288V,Missense_L161V exm1602245 22 32482251 [A/G] NM_000343,NM_001256314 SLC5A1,SLC5A1 EXON Missense_G356S,Missense_G229S exm1602254 22 32487700 [A/G] NM_000343,NM_001256314 SLC5A1,SLC5A1 EXON Missense_A411T,Missense_A284T exm2275191 22 32498115 [T/C] NM_000343,NM_001256314 SLC5A1,SLC5A1 EXON Missense_T519M,Missense_T392M exm1602268 22 32500870 [T/C] NM_000343,NM_001256314 SLC5A1,SLC5A1 EXON Missense_I588T,Missense_I461T exm1602271 22 32505988 [A/C] NM_000343,NM_001256314 SLC5A1,SLC5A1 EXON Missense_P595T,Missense_P468T exm1602274 22 32506050 [C/G] NM_000343,NM_001256314 SLC5A1,SLC5A1 EXON Missense_H615Q,Missense_H488Q exm1602275 22 32506051 [A/G] NM_000343,NM_001256314 SLC5A1,SLC5A1 EXON Missense_G616S,Missense_G489S exm1602276 22 32506071 [C/G] NM_000343,NM_001256314 SLC5A1,SLC5A1 EXON Missense_E622D,Missense_E495D exm1602318 22 32547484 [A/G] NM_001010859 C22orf42 EXON Missense_T152M exm1602344 22 32554985 [A/G] NM_001010859 C22orf42 EXON Missense_L73P exm1602346 22 32554994 [A/G] NM_001010859 C22orf42 EXON Missense_P70L exm1602348 22 32554997 [A/G] NM_001010859 C22orf42 EXON Missense_T69M exm1602397 22 32587251 [A/C] NM_001159546,NM_001159545,NM_006605,NM_001098527 RFPL2,RFPL2,RFPL2,RFPL2 EXON Missense_Q125H,Missense_Q125H,Missense_Q154H,Missense_Q215H exm1602412 22 32589006 [A/G] NM_001159546,NM_001159545,NM_006605,NM_001098527 RFPL2,RFPL2,RFPL2,RFPL2 EXON Missense_R57W,Missense_R57W,Missense_R86W,Missense_R147W exm1602413 22 32589023 [T/C] NM_001159546,NM_001159545,NM_006605,NM_001098527 RFPL2,RFPL2,RFPL2,RFPL2 EXON Missense_C51Y,Missense_C51Y,Missense_C80Y,Missense_C141Y exm1602430 22 32590449 [A/G] NM_001159546,NM_001159545,NM_001098527 RFPL2,RFPL2,RFPL2 EXON Silent,Silent,Missense_R50C exm1602436 22 32598426 [T/C] NM_001159546,NM_001159545,NM_001098527 RFPL2,RFPL2,RFPL2 EXON Silent,Silent,Missense_E5K exm1602438 22 32614536 [T/C] NM_014227 SLC5A4 EXON Missense_A649T exm1602444 22 32614712 [T/C] NM_014227 SLC5A4 EXON Missense_D590G exm2006851 22 32614713 [T/C] NM_014227 SLC5A4 Silent exm2006853 22 32616967 [A/G] NM_014227 SLC5A4 EXON Nonsense_R570X exm1602449 22 32616985 [A/G] NM_014227 SLC5A4 EXON Missense_R564W exm1602450 22 32617002 [T/C] NM_014227 SLC5A4 EXON Missense_R558H exm1602451 22 32617003 [A/G] NM_014227 SLC5A4 EXON Missense_R558C exm1602456 22 32620322 [A/G] NM_014227 SLC5A4 EXON Missense_L533F exm2006856 22 32620349 [T/C] NM_014227 SLC5A4 EXON Missense_V524M exm2235581 22 32620358 [T/A] NM_014227 SLC5A4 EXON Missense_I521F exm1602466 22 32625182 [A/G] NM_014227 SLC5A4 EXON Missense_R427W exm1602474 22 32625260 [T/C] NM_014227 SLC5A4 EXON Missense_A401T exm1602482 22 32626981 [A/G] NM_014227 SLC5A4 EXON Missense_T368M exm1602484 22 32626996 [T/C] NM_014227 SLC5A4 EXON Missense_N363S exm1602488 22 32628900 [T/C] NM_014227 SLC5A4 EXON Missense_R336H exm1602493 22 32629008 [T/C] NM_014227 SLC5A4 EXON Missense_R300H exm1602499 22 32630898 [T/C] NM_014227 SLC5A4 EXON Missense_M283V exm1602501 22 32630946 [A/G] NM_014227 SLC5A4 EXON Nonsense_R267X exm1602504 22 32630969 [T/C] NM_014227 SLC5A4 EXON Missense_R259Q exm1602506 22 32630981 [G/C] NM_014227 SLC5A4 EXON Missense_C255S exm1602507 22 32630990 [T/C] NM_014227 SLC5A4 EXON Missense_S252N exm1602508 22 32631018 [T/C] NM_014227 SLC5A4 EXON Missense_V243I exm2006883 22 32643397 [G/C] NM_014227 SLC5A4 Silent exm1602526 22 32643460 [A/C] NM_014227 SLC5A4 EXON Nonsense_E139X exm1602532 22 32647774 [T/C] NM_014227 SLC5A4 EXON Missense_V99I exm2255106 22 32650156 [A/G] NM_014227 SLC5A4 EXON Synonymous_L60L exm1602538 22 32650200 [T/C] NM_014227 SLC5A4 EXON Missense_A46T exm1602539 22 32651238 [T/C] NM_014227 SLC5A4 EXON Missense_A27T exm1602541 22 32651295 [A/T] NM_014227 SLC5A4 EXON Missense_S8C exm1602543 22 32651306 [A/G] NM_014227 SLC5A4 EXON Missense_T4M exm-rs5998432 22 32745916 [T/C] exm1602584 22 32756358 [A/G] NM_006604,NM_001098535,NR_002596,NR_001450 RFPL3,RFPL3,RFPL3S,RFPL3S EXON Missense_V136M,Missense_V165M,Silent,Silent exm2235583 22 32756793 [T/C] NM_006604,NM_001098535,NR_002596,NR_001450 RFPL3,RFPL3,RFPL3S,RFPL3S EXON Missense_P281S,Missense_P310S,Silent,Silent exm1602642 22 32788264 [A/G] NM_014306 C22orf28 EXON Missense_A458V exm1602655 22 32791113 [T/C] NM_014306 C22orf28 EXON Missense_Q360R exm1602683 22 32797807 [T/G] NM_014306 C22orf28 EXON Missense_Q142K exm2275192 22 32802742 [T/C] NM_014306 C22orf28 EXON Missense_I83V exm1602693 22 32804176 [T/G] NM_014306 C22orf28 EXON Missense_P76T exm1602698 22 32804804 [T/C] NM_014306 C22orf28 EXON Missense_Y37C exm1602712 22 32810378 [T/G] NM_174932 BPIFC EXON Missense_E479A exm1602714 22 32811904 [T/C] NM_174932 BPIFC EXON Missense_E467K exm1602716 22 32811952 [A/G] NM_174932 BPIFC EXON Missense_S451P exm1602725 22 32827368 [T/C] NM_174932 BPIFC EXON Missense_G395R exm1602745 22 32829753 [T/C] NM_174932 BPIFC EXON Missense_N311D exm1602747 22 32831711 [G/C] NM_174932 BPIFC EXON Missense_V302L exm1602748 22 32831719 [A/G] NM_174932 BPIFC EXON Missense_V299A exm1602754 22 32831768 [A/C] NM_174932 BPIFC EXON Missense_A283S exm1602758 22 32831809 [A/G] NM_174932 BPIFC EXON Missense_V269A exm1602759 22 32831830 [A/G] NM_174932 BPIFC EXON Missense_P262L exm1602761 22 32831837 [T/C] NM_174932 BPIFC EXON Missense_D260N exm1602765 22 32833754 [T/C] NM_174932 BPIFC EXON Missense_N247S exm1602769 22 32838661 [T/C] NM_174932 BPIFC EXON Missense_E218K exm1602771 22 32838673 [A/G] NM_174932 BPIFC EXON Missense_L214F exm1602782 22 32841928 [T/C] NM_174932 BPIFC EXON Missense_I144V exm1602789 22 32843235 [T/C] NM_174932 BPIFC EXON Missense_N113S exm1602791 22 32843259 [A/G] NM_174932 BPIFC EXON Missense_A105V exm1602796 22 32843317 [T/C] NM_174932 BPIFC EXON Missense_S86G exm1602801 22 32849470 [A/T] NM_174932 BPIFC EXON Missense_M49L exm1602808 22 32871356 [A/G] NM_012179,NM_001033024,NM_001257990 FBXO7,FBXO7,FBXO7 EXON Silent,Missense_R3Q,Silent exm1602809 22 32871365 [A/G] NM_012179,NM_001033024,NM_001257990 FBXO7,FBXO7,FBXO7 EXON Silent,Missense_G6E,Silent exm1602811 22 32871383 [T/G] NM_012179,NM_001033024,NM_001257990 FBXO7,FBXO7,FBXO7 EXON Silent,Missense_L12R,Silent exm1602818 22 32875119 [G/C] NM_012179,NM_001033024,NM_001257990 FBXO7,FBXO7,FBXO7 EXON Missense_D92H,Silent,Silent exm1602819 22 32875122 [T/G] NM_012179,NM_001033024,NM_001257990 FBXO7,FBXO7,FBXO7 EXON Missense_S93A,Missense_S14A,Silent exm1602821 22 32875190 [A/G] NM_012179,NM_001033024,NM_001257990 FBXO7,FBXO7,FBXO7 EXON Missense_M115I,Missense_M36I,Missense_M1I exm1602838 22 32880067 [A/G] NM_012179,NM_001033024,NM_001257990 FBXO7,FBXO7,FBXO7 EXON Missense_V201M,Missense_V122M,Missense_V87M exm1602873 22 32894401 [A/G] NM_012179,NM_001033024,NM_001257990 FBXO7,FBXO7,FBXO7 EXON Missense_V485I,Missense_V406I,Missense_V371I exm1602877 22 32894453 [A/G] NM_012179,NM_001033024,NM_001257990 FBXO7,FBXO7,FBXO7 EXON Missense_N502S,Missense_N423S,Missense_N388S exm2007036 22 32894494 [G/C] NM_012179,NM_001033024,NM_001257990 FBXO7,FBXO7,FBXO7 EXON Missense_D516H,Missense_D437H,Missense_D402H exm2235586 22 32914049 [G/C] NM_003490,NM_133633,NM_001135774 SYN3,SYN3,SYN3 EXON Missense_P531A,Silent,Missense_P530A exm1602890 22 32914067 [G/C] NM_003490,NM_133633,NM_001135774 SYN3,SYN3,SYN3 EXON Missense_E525Q,Silent,Missense_E524Q exm1602895 22 32914174 [T/C] NM_003490,NM_133633,NM_001135774 SYN3,SYN3,SYN3 EXON Missense_R489Q,Silent,Missense_R488Q exm1602896 22 32914175 [A/G] NM_003490,NM_133633,NM_001135774 SYN3,SYN3,SYN3 EXON Missense_R489W,Silent,Missense_R488W exm1602899 22 32914209 [A/C] NM_003490,NM_133633,NM_001135774 SYN3,SYN3,SYN3 EXON Missense_Q477H,Silent,Missense_Q476H exm1602907 22 32914312 [T/C] NM_003490,NM_133633,NM_001135774 SYN3,SYN3,SYN3 EXON Missense_R443H,Silent,Missense_R442H exm1602910 22 32923919 [T/C] NM_003490,NM_133633,NM_001135774 SYN3,SYN3,SYN3 EXON Missense_R435H,Missense_R435H,Missense_R434H exm1602922 22 32929841 [T/C] NM_003490,NM_133633,NM_001135774 SYN3,SYN3,SYN3 EXON Missense_G345S,Missense_G345S,Missense_G344S exm2007056 22 32929861 [G/C] NM_003490,NM_133633,NM_001135774 SYN3,SYN3,SYN3 EXON Missense_S338T,Missense_S338T,Missense_S337T exm1602929 22 32937633 [T/C] NM_003490,NM_133633,NM_001135774 SYN3,SYN3,SYN3 EXON Missense_A281T,Missense_A281T,Missense_A280T exm2273029 22 32971900 [T/C] NM_003490,NM_133633,NM_001135774 SYN3,SYN3,SYN3 Silent,Silent,Silent exm2261210 22 32994777 [A/G] NM_003490,NM_133633,NM_001135774 SYN3,SYN3,SYN3 Silent,Silent,Silent exm-rs5754188 22 33048216 [T/G] NM_003490,NM_133633,NM_001135774 SYN3,SYN3,SYN3 Silent,Silent,Silent exm-rs242076 22 33229830 [A/G] NM_003490,NM_133633,NM_001135774,NM_000362 SYN3,SYN3,SYN3,TIMP3 Silent,Silent,Silent,Silent exm1602949 22 33253320 [A/G] NM_003490,NM_133633,NM_001135774,NM_000362 SYN3,SYN3,SYN3,TIMP3 EXON Silent,Silent,Silent,Missense_V97I exm1602952 22 33254048 [A/G] NM_003490,NM_133633,NM_001135774,NM_000362 SYN3,SYN3,SYN3,TIMP3 EXON Silent,Silent,Silent,Missense_V121M exm1602968 22 33264982 [T/C] NM_003490,NM_133633,NM_001135774 SYN3,SYN3,SYN3 EXON Missense_V198I,Missense_V198I,Missense_V197I exm1602974 22 33327400 [T/C] NM_003490,NM_133633,NM_001135774 SYN3,SYN3,SYN3 EXON Missense_V146M,Missense_V146M,Missense_V146M exm1602980 22 33376632 [T/G] NM_003490,NM_133633,NM_001135774 SYN3,SYN3,SYN3 EXON Missense_Q123K,Missense_Q123K,Missense_Q123K exm1602982 22 33376644 [T/C] NM_003490,NM_133633,NM_001135774 SYN3,SYN3,SYN3 EXON Missense_I119V,Missense_I119V,Missense_I119V exm2007364 22 33402580 [A/G] NM_003490,NM_133633,NM_001135774 SYN3,SYN3,SYN3 EXON Missense_T23M,Missense_T23M,Missense_T23M exm1602993 22 33402604 [A/G] NM_003490,NM_133633,NM_001135774 SYN3,SYN3,SYN3 EXON Missense_A15V,Missense_A15V,Missense_A15V exm2268418 22 33591130 [A/G] exm2261212 22 33661960 [T/C] exm1603016 22 33673125 [T/C] NM_004737,NM_133642 LARGE,LARGE EXON Missense_R665H,Missense_R665H exm1603023 22 33673216 [T/C] NM_004737,NM_133642 LARGE,LARGE EXON Missense_A635T,Missense_A635T exm1603035 22 33700270 [T/C] NM_004737,NM_133642 LARGE,LARGE EXON Missense_M559V,Missense_M559V exm1603037 22 33700300 [T/C] NM_004737,NM_133642 LARGE,LARGE EXON Missense_V549M,Missense_V549M exm1603045 22 33712102 [T/C] NM_004737,NM_133642 LARGE,LARGE EXON Missense_V474I,Missense_V474I exm2007580 22 33778028 [A/G] NM_004737,NM_133642 LARGE,LARGE EXON Synonymous_D336D,Synonymous_D336D exm1603061 22 33828243 [G/C] NM_004737,NM_133642 LARGE,LARGE EXON Missense_V266L,Missense_V266L exm1603086 22 34000452 [T/C] NM_004737,NM_133642 LARGE,LARGE EXON Missense_R195H,Missense_R195H exm1603107 22 34046370 [T/C] NM_004737,NM_133642 LARGE,LARGE EXON Missense_V131I,Missense_V131I exm1603126 22 34046583 [A/G] NM_004737,NM_133642 LARGE,LARGE EXON Missense_R60W,Missense_R60W exm1603128 22 34046598 [T/C] NM_004737,NM_133642 LARGE,LARGE EXON Missense_T55A,Missense_T55A exm1603130 22 34046630 [A/G] NM_004737,NM_133642 LARGE,LARGE EXON Missense_P44L,Missense_P44L exm-rs240343 22 34053443 [T/C] NM_004737,NM_133642 LARGE,LARGE Silent,Silent exm2268419 22 34058890 [A/G] NM_004737,NM_133642 LARGE,LARGE Silent,Silent exm2261214 22 34469292 [T/C] exm2273030 22 34842677 [T/C] exm-rs130575 22 34859793 [A/G] exm2268421 22 35262039 [A/G] exm1603174 22 35463162 [A/G] NM_001008494 ISX EXON Missense_S28G exm1603181 22 35463225 [T/C] NM_001008494 ISX EXON Missense_P49S exm1603182 22 35463249 [T/C] NM_001008494 ISX EXON Missense_P57S exm1603189 22 35478529 [A/G] NM_001008494 ISX EXON Missense_R83Q exm1603191 22 35478538 [A/G] NM_001008494 ISX EXON Missense_R86H exm1603197 22 35478616 [A/G] NM_001008494 ISX EXON Missense_R112H exm1603207 22 35480395 [A/G] NM_001008494 ISX EXON Missense_R134Q exm1603208 22 35480407 [A/G] NM_001008494 ISX EXON Missense_R138Q exm1603210 22 35480467 [T/C] NM_001008494 ISX EXON Missense_A158V exm1603217 22 35481493 [T/C] NM_001008494 ISX EXON Missense_T182M exm1603218 22 35481508 [T/C] NM_001008494 ISX EXON Missense_S187L exm1603222 22 35481564 [A/G] NM_001008494 ISX EXON Missense_A206T exm1603225 22 35481661 [T/G] NM_001008494 ISX EXON Missense_G238V exm1603232 22 35658407 [G/C] NR_027780,NM_001003681 HMGXB4,HMGXB4 EXON Silent,Missense_K8N exm1603249 22 35660875 [T/G] NR_027780,NM_001003681 HMGXB4,HMGXB4 EXON Silent,Missense_G165V exm1603253 22 35660939 [T/G] NR_027780,NM_001003681 HMGXB4,HMGXB4 EXON Silent,Missense_E186D exm1603259 22 35661087 [T/C] NR_027780,NM_001003681 HMGXB4,HMGXB4 EXON Silent,Missense_L236F exm2273062 22 35663523 [T/C] NR_027780,NM_001003681 HMGXB4,HMGXB4 Silent,Silent exm1603292 22 35684269 [T/C] NR_027780,NM_001003681 HMGXB4,HMGXB4 EXON Silent,Missense_P503S exm-rs138777 22 35711098 [A/G] NM_001135729,NM_001135732,NM_005488,NR_024194,NM_001135730,NR_024195 TOM1,TOM1,TOM1,TOM1,TOM1,TOM1 Silent,Silent,Silent,Silent,Silent,Silent exm1603312 22 35717957 [A/G] NM_001135729,NM_001135732,NM_005488,NR_024194,NM_001135730,NR_024195 TOM1,TOM1,TOM1,TOM1,TOM1,TOM1 EXON Missense_K15R,Missense_K48R,Missense_K48R,Silent,Missense_K48R,Silent exm1603345 22 35719860 [G/C] NM_001135729,NM_001135732,NM_005488,NR_024194,NM_001135730,NR_024195 TOM1,TOM1,TOM1,TOM1,TOM1,TOM1 EXON Missense_P168A,Missense_P201A,Missense_P201A,Silent,Missense_P156A,Silent exm1603349 22 35719875 [A/G] NM_001135729,NM_001135732,NM_005488,NR_024194,NM_001135730,NR_024195 TOM1,TOM1,TOM1,TOM1,TOM1,TOM1 EXON Missense_G173S,Missense_G206S,Missense_G206S,Silent,Missense_G161S,Silent exm1603359 22 35723351 [T/G] NM_001135729,NM_001135732,NM_005488,NR_024194,NM_001135730,NR_024195 TOM1,TOM1,TOM1,TOM1,TOM1,TOM1 EXON Missense_A213S,Missense_A246S,Missense_A246S,Silent,Missense_A201S,Silent exm1603361 22 35726364 [A/G] NM_001135729,NM_001135732,NM_005488,NR_024194,NM_001135730,NR_024195 TOM1,TOM1,TOM1,TOM1,TOM1,TOM1 EXON Missense_M231V,Missense_M264V,Missense_M264V,Silent,Missense_M219V,Silent exm2273031 22 35728466 [T/C] NM_001135729,NM_001135732,NM_005488,NR_024194,NM_001135730,NR_024195 TOM1,TOM1,TOM1,TOM1,TOM1,TOM1 Silent,Silent,Silent,Silent,Silent,Silent exm1603378 22 35730426 [T/C] NM_001135729,NM_001135732,NM_005488,NR_024194,NM_001135730,NR_024195 TOM1,TOM1,TOM1,TOM1,TOM1,TOM1 EXON Missense_A345V,Missense_A378V,Missense_A378V,Silent,Missense_A333V,Silent exm1603381 22 35734737 [A/G] NM_001135729,NM_001135732,NM_005488,NR_024194,NM_001135730,NR_024195 TOM1,TOM1,TOM1,TOM1,TOM1,TOM1 EXON Missense_G361S,Missense_G394S,Missense_G394S,Silent,Missense_G349S,Silent exm1603383 22 35734779 [A/G] NM_001135729,NM_001135732,NM_005488,NR_024194,NM_001135730,NR_024195 TOM1,TOM1,TOM1,TOM1,TOM1,TOM1 EXON Missense_A375T,Missense_A408T,Missense_A408T,Silent,Missense_A363T,Silent exm1603392 22 35741775 [A/G] NM_001135729,NM_001135732,NM_005488,NR_024194,NM_001135730,NR_024195 TOM1,TOM1,TOM1,TOM1,TOM1,TOM1 EXON Missense_V395M,Missense_V428M,Missense_V428M,Silent,Missense_V383M,Silent exm1603397 22 35742933 [T/C] NM_001135729,NM_001135732,NM_005488,NR_024194,NM_001135730,NR_024195 TOM1,TOM1,TOM1,TOM1,TOM1,TOM1 EXON Missense_A399V,Missense_A432V,Missense_A432V,Silent,Missense_A387V,Silent exm1603401 22 35743083 [A/G] NM_001135729,NM_001135732,NM_005488,NR_024194,NM_001135730,NR_024195 TOM1,TOM1,TOM1,TOM1,TOM1,TOM1 EXON Missense_A422T,Missense_A455T,Missense_A454T,Silent,Missense_A409T,Silent exm1603402 22 35743090 [A/G] NM_001135729,NM_001135732,NM_005488,NR_024194,NM_001135730,NR_024195 TOM1,TOM1,TOM1,TOM1,TOM1,TOM1 EXON Missense_R424Q,Missense_R457Q,Missense_R456Q,Silent,Missense_R411Q,Silent exm1603403 22 35743105 [T/C] NM_001135729,NM_001135732,NM_005488,NR_024194,NM_001135730,NR_024195 TOM1,TOM1,TOM1,TOM1,TOM1,TOM1 EXON Missense_S429F,Missense_S462F,Missense_S461F,Silent,Missense_S416F,Silent exm2008281 22 35779124 [A/C] NM_002133 HMOX1 EXON Missense_L17M exm1603418 22 35779162 [T/G] NM_002133 HMOX1 EXON Missense_E29D exm1603419 22 35779206 [A/G] NM_002133 HMOX1 EXON Missense_R44Q exm1603424 22 35782786 [T/C] NM_002133 HMOX1 EXON Missense_R85C exm1603426 22 35782796 [A/C] NM_002133 HMOX1 EXON Missense_A88D exm1603428 22 35782820 [A/G] NM_002133 HMOX1 EXON Nonsense_W96X exm1603447 22 35783110 [T/C] NM_002133 HMOX1 EXON Missense_P193S exm1603455 22 35785929 [C/G] NM_002133 HMOX1 EXON Missense_R237G exm1603457 22 35785936 [A/G] NM_002133 HMOX1 EXON Missense_R239Q exm1603460 22 35789508 [T/C] NM_002133 HMOX1 EXON Missense_R262C exm1603461 22 35789521 [T/C] NM_002133 HMOX1 EXON Missense_P266L exm1603463 22 35789530 [A/G] NM_002133 HMOX1 EXON Missense_R269Q exm1603464 22 35789560 [T/C] NM_002133 HMOX1 EXON Missense_A279V exm1603471 22 35796514 [A/C] NM_006739 MCM5 EXON Missense_K28T exm1603480 22 35799429 [T/C] NM_006739 MCM5 EXON Missense_V106A exm1603481 22 35799447 [A/G] NM_006739 MCM5 EXON Missense_R112Q exm1603482 22 35799487 [C/G] NM_006739 MCM5 EXON Missense_Q125H exm1603483 22 35799491 [A/G] NM_006739 MCM5 EXON Missense_M127V exm1603484 22 35799499 [T/G] NM_006739 MCM5 EXON Missense_K129N exm2235598 22 35799506 [A/G] NM_006739 MCM5 EXON Missense_A132T exm1603492 22 35802567 [G/C] NM_006739 MCM5 EXON Missense_V149L exm1603494 22 35802592 [T/C] NM_006739 MCM5 EXON Missense_A157V exm2235599 22 35802622 [A/G] NM_006739 MCM5 EXON Missense_R167H exm1603502 22 35802649 [A/G] NM_006739 MCM5 EXON Missense_R176H exm1603503 22 35802661 [C/G] NM_006739 MCM5 EXON Missense_T180S exm1603516 22 35806756 [A/G] NM_006739 MCM5 EXON Missense_V258I exm1603517 22 35806779 [C/G] NM_006739 MCM5 EXON Missense_I265M exm1603520 22 35806828 [T/C] NM_006739 MCM5 EXON Missense_R282C exm1603535 22 35809872 [T/C] NM_006739 MCM5 EXON Missense_P366S exm1603541 22 35811868 [T/C] NM_006739 MCM5 EXON Missense_S417L exm1603550 22 35811955 [T/A] NM_006739 MCM5 EXON Missense_E446V exm1603555 22 35812389 [A/G] NM_006739 MCM5 EXON Missense_I469V exm1603558 22 35812697 [T/C] NM_006739 MCM5 EXON Missense_R494C exm1603564 22 35813743 [T/G] NM_006739 MCM5 EXON Missense_A533S exm1603565 22 35813767 [A/G] NM_006739 MCM5 EXON Missense_V541M exm2275193 22 35813772 [C/G] NM_006739 MCM5 EXON Missense_S542R exm1603568 22 35813809 [A/G] NM_006739 MCM5 EXON Missense_D555N exm1603571 22 35815942 [A/G] NM_006739 MCM5 EXON Missense_R590Q exm2008346 22 35815954 [A/G] NM_006739 MCM5 EXON Missense_R594H exm1603573 22 35815981 [A/G] NM_006739 MCM5 EXON Missense_R603H exm1603583 22 35817441 [A/G] NM_006739 MCM5 EXON Missense_G655S exm1603597 22 35820175 [T/C] NM_006739 MCM5 EXON Missense_V711A exm1603607 22 35942878 [A/G] NM_014310 RASD2 EXON Missense_G8R exm1603612 22 35942984 [A/G] NM_014310 RASD2 EXON Missense_R43H exm1603642 22 36003390 [T/C] NM_203378,NM_005368,NM_203377 MB,MB,MB EXON Missense_R140Q,Missense_R140Q,Missense_R140Q exm1603662 22 36013289 [T/C] NM_203378,NM_005368,NM_203377 MB,MB,MB EXON Missense_G6R,Missense_G6R,Missense_G6R exm1603680 22 36054741 [A/G] NM_030641 APOL6 EXON Missense_R44G exm1603691 22 36054862 [T/C] NM_030641 APOL6 EXON Missense_T84I exm1603697 22 36054997 [T/C] NM_030641 APOL6 EXON Missense_T129M exm1603699 22 36055005 [T/C] NM_030641 APOL6 EXON Missense_R132C exm1603700 22 36055033 [A/G] NM_030641 APOL6 EXON Missense_R141Q exm1603701 22 36055036 [T/C] NM_030641 APOL6 EXON Missense_A142V exm1603704 22 36055077 [A/G] NM_030641 APOL6 EXON Missense_D156N exm1603707 22 36055130 [A/T] NM_030641 APOL6 EXON Missense_N173K exm1603708 22 36055141 [A/C] NM_030641 APOL6 EXON Missense_T177N exm1603709 22 36055164 [A/G] NM_030641 APOL6 EXON Missense_V185I exm1603716 22 36055294 [T/C] NM_030641 APOL6 EXON Missense_A228V exm1603718 22 36055314 [A/G] NM_030641 APOL6 EXON Missense_V235M exm1603719 22 36055320 [A/G] NM_030641 APOL6 EXON Missense_G237R exm1603727 22 36055502 [T/G] NM_030641 APOL6 EXON Missense_R297S exm1603728 22 36055507 [T/G] NM_030641 APOL6 EXON Missense_R299M exm1603738 22 36116662 [A/G] NM_030642 APOL5 EXON Missense_G35R exm2275262 22 36116702 [A/G] NM_030642 APOL5 Silent exm1603751 22 36122356 [A/G] NM_030642 APOL5 EXON Missense_E81K exm1603753 22 36122365 [T/C] NM_030642 APOL5 EXON Nonsense_R84X exm1603755 22 36122380 [A/T] NM_030642 APOL5 EXON Missense_S89T exm1603764 22 36122501 [A/C] NM_030642 APOL5 EXON Missense_T129N exm1603772 22 36122724 [A/C] NM_030642 APOL5 EXON Missense_S203R exm1603780 22 36122791 [A/G] NM_030642 APOL5 EXON Missense_A226T exm1603785 22 36122930 [T/C] NM_030642 APOL5 EXON Missense_T272M exm1603790 22 36123083 [T/C] NM_030642 APOL5 EXON Missense_T323M exm1603794 22 36123139 [C/G] NM_030642 APOL5 EXON Missense_R342G exm1603804 22 36124810 [T/G] NM_030642 APOL5 EXON Missense_Q389H exm2268422 22 36130577 [A/G] exm1603821 22 36142031 [A/C] NM_001082578,NM_014309,NM_001031695,NM_001082577,NM_001082579,NM_001082576 RBFOX2,RBFOX2,RBFOX2,RBFOX2,RBFOX2,RBFOX2 EXON Missense_V417G,Missense_C330G,Missense_V346G,Missense_C333G,Missense_V416G,Missense_V342G exm2275194 22 36164375 [C/G] NM_001082578,NM_014309,NM_001031695,NM_001082577,NM_001082579,NM_001082576 RBFOX2,RBFOX2,RBFOX2,RBFOX2,RBFOX2,RBFOX2 EXON Missense_E229Q,Missense_E159Q,Missense_E158Q,Missense_E158Q,Missense_E228Q,Missense_E158Q exm2255138 22 36174093 [T/G] NM_001082578,NM_014309,NM_001031695,NM_001082577,NM_001082579,NM_001082576 RBFOX2,RBFOX2,RBFOX2,RBFOX2,RBFOX2,RBFOX2 EXON Synonymous_I214I,Synonymous_I144I,Synonymous_I143I,Synonymous_I143I,Synonymous_I213I,Synonymous_I143I exm1603854 22 36205862 [T/C] NM_001082578,NM_014309,NM_001031695,NM_001082577,NM_001082579,NM_001082576 RBFOX2,RBFOX2,RBFOX2,RBFOX2,RBFOX2,RBFOX2 EXON Missense_S143G,Missense_S73G,Missense_S73G,Missense_S73G,Missense_S143G,Missense_S73G exm2255140 22 36206037 [T/C] NM_001082578,NM_014309,NM_001031695,NM_001082577,NM_001082579,NM_001082576 RBFOX2,RBFOX2,RBFOX2,RBFOX2,RBFOX2,RBFOX2 EXON Synonymous_P84P,Synonymous_P14P,Synonymous_P14P,Synonymous_P14P,Synonymous_P84P,Synonymous_P14P exm2268438 22 36443705 [A/G] exm1603889 22 36537327 [T/C] NM_145641,NR_027835,NR_027833,NR_027834,NM_145642,NM_145640 APOL3,APOL3,APOL3,APOL3,APOL3,APOL3 EXON Missense_R177Q,Silent,Silent,Silent,Missense_R177Q,Missense_R377Q exm1603900 22 36537432 [A/G] NM_145641,NR_027835,NR_027833,NR_027834,NM_145642,NM_145640 APOL3,APOL3,APOL3,APOL3,APOL3,APOL3 EXON Missense_A142V,Silent,Silent,Silent,Missense_A142V,Missense_A342V exm1603903 22 36537480 [A/G] NM_145641,NR_027835,NR_027833,NR_027834,NM_145642,NM_145640 APOL3,APOL3,APOL3,APOL3,APOL3,APOL3 EXON Missense_I126T,Silent,Silent,Silent,Missense_I126T,Missense_I326T exm2255141 22 36537725 [A/G] NM_145641,NR_027835,NR_027833,NR_027834,NM_145642,NM_145640 APOL3,APOL3,APOL3,APOL3,APOL3,APOL3 EXON Synonymous_Y44Y,Silent,Silent,Silent,Synonymous_Y44Y,Synonymous_Y244Y exm1603923 22 36537736 [T/C] NM_145641,NR_027835,NR_027833,NR_027834,NM_145642,NM_145640 APOL3,APOL3,APOL3,APOL3,APOL3,APOL3 EXON Missense_E41K,Silent,Silent,Silent,Missense_E41K,Missense_E241K exm1603924 22 36537763 [T/C] NM_145641,NR_027835,NR_027833,NR_027834,NM_145642,NM_145640 APOL3,APOL3,APOL3,APOL3,APOL3,APOL3 EXON Missense_V32M,Silent,Silent,Silent,Missense_V32M,Missense_V232M exm1603926 22 36537775 [T/C] NM_145641,NR_027835,NR_027833,NR_027834,NM_145642,NM_145640 APOL3,APOL3,APOL3,APOL3,APOL3,APOL3 EXON Missense_A28T,Silent,Silent,Silent,Missense_A28T,Missense_A228T exm1603927 22 36537798 [A/G] NM_145641,NR_027835,NR_027833,NR_027834,NM_145642,NM_145640 APOL3,APOL3,APOL3,APOL3,APOL3,APOL3 EXON Missense_T20I,Silent,Silent,Silent,Missense_T20I,Missense_T220I exm1603930 22 36537871 [T/C] NM_145641,NR_027835,NR_027833,NR_027834,NM_145642,NM_145640 APOL3,APOL3,APOL3,APOL3,APOL3,APOL3 EXON Silent,Silent,Silent,Silent,Silent,Missense_A196T exm1603935 22 36537952 [T/G] NM_145641,NR_027835,NR_027833,NR_027834,NM_145642,NM_145640 APOL3,APOL3,APOL3,APOL3,APOL3,APOL3 EXON Silent,Silent,Silent,Silent,Silent,Missense_K169Q exm1603940 22 36538053 [A/G] NM_145641,NR_027835,NR_027833,NR_027834,NM_145642,NM_145640 APOL3,APOL3,APOL3,APOL3,APOL3,APOL3 EXON Silent,Silent,Silent,Silent,Silent,Missense_A135V exm2255142 22 36539754 [T/G] NM_145641,NR_027835,NR_027833,NR_027834,NM_145642,NM_145640 APOL3,APOL3,APOL3,APOL3,APOL3,APOL3 Silent,Silent,Silent,Silent,Silent,Silent exm1603943 22 36541536 [A/G] NM_145641,NR_027835,NR_027833,NR_027834,NM_145642,NM_145640 APOL3,APOL3,APOL3,APOL3,APOL3,APOL3 EXON Silent,Silent,Silent,Silent,Silent,Missense_A112V exm2008490 22 36541567 [T/C] NM_145641,NR_027835,NR_027833,NR_027834,NM_145642,NM_145640 APOL3,APOL3,APOL3,APOL3,APOL3,APOL3 EXON Silent,Silent,Silent,Silent,Silent,Missense_N102D exm-rs132628 22 36541825 [T/C] NM_145641,NR_027835,NR_027833,NR_027834,NM_145642,NM_145640 APOL3,APOL3,APOL3,APOL3,APOL3,APOL3 Silent,Silent,Silent,Silent,Silent,Silent exm1603957 22 36556729 [T/C] NM_145641,NR_027835,NR_027833,NR_027834,NM_145642,NM_145640 APOL3,APOL3,APOL3,APOL3,APOL3,APOL3 EXON Silent,Silent,Silent,Silent,Silent,Missense_R71G exm1603958 22 36556768 [A/G] NM_145641,NR_027835,NR_027833,NR_027834,NM_145642,NM_145640 APOL3,APOL3,APOL3,APOL3,APOL3,APOL3 EXON Silent,Silent,Silent,Silent,Silent,Nonsense_Q58X exm1603962 22 36556823 [T/G] NM_145641,NR_027835,NR_027833,NR_027834,NM_145642,NM_145640 APOL3,APOL3,APOL3,APOL3,APOL3,APOL3 EXON Silent,Silent,Silent,Silent,Silent,Missense_S39R exm1603963 22 36556836 [A/C] NM_145641,NR_027835,NR_027833,NR_027834,NM_145642,NM_145640 APOL3,APOL3,APOL3,APOL3,APOL3,APOL3 EXON Silent,Silent,Silent,Silent,Silent,Missense_G35V exm1603968 22 36556882 [T/C] NM_145641,NR_027835,NR_027833,NR_027834,NM_145642,NM_145640 APOL3,APOL3,APOL3,APOL3,APOL3,APOL3 EXON Silent,Silent,Silent,Silent,Silent,Missense_S20G exm1603971 22 36587154 [T/G] NM_145660,NM_030643 APOL4,APOL4 EXON Missense_H341Q,Missense_H338Q exm1603983 22 36587279 [A/G] NM_145660,NM_030643 APOL4,APOL4 EXON Missense_C300R,Missense_C297R exm1603986 22 36587311 [A/G] NM_145660,NM_030643 APOL4,APOL4 EXON Missense_P289L,Missense_P286L exm2008501 22 36587386 [A/G] NM_145660,NM_030643 APOL4,APOL4 EXON Missense_A264V,Missense_A261V exm1603995 22 36587404 [A/G] NM_145660,NM_030643 APOL4,APOL4 EXON Missense_T258M,Missense_T255M exm1603998 22 36587468 [A/G] NM_145660,NM_030643 APOL4,APOL4 EXON Nonsense_R237X,Nonsense_R234X exm1604000 22 36587486 [A/G] NM_145660,NM_030643 APOL4,APOL4 EXON Missense_F231L,Missense_F228L exm1604006 22 36587626 [A/C] NM_145660,NM_030643 APOL4,APOL4 EXON Missense_G184V,Missense_G181V exm1604013 22 36587704 [T/C] NM_145660,NM_030643 APOL4,APOL4 EXON Missense_Y158C,Missense_Y155C exm1604020 22 36587886 [T/C] NM_145660,NM_030643 APOL4,APOL4 EXON Missense_M97I,Missense_M94I exm1604040 22 36595421 [T/C] NM_145660,NM_030643 APOL4,APOL4 EXON Missense_V16M,Missense_V13M exm1604049 22 36598049 [C/G] NM_145660,NM_030643 APOL4,APOL4 EXON Missense_V12L,Silent exm1604050 22 36598058 [T/C] NM_145660,NM_030643 APOL4,APOL4 EXON Missense_I9V,Silent exm1604051 22 36598081 [T/A] NM_145660,NM_030643 APOL4,APOL4 EXON Missense_M1K,Silent exm1604054 22 36598101 [T/C] NM_145660,NM_030643 APOL4,APOL4 EXON Silent,Silent exm-rs4821469 22 36616445 [T/C] exm1604065 22 36623628 [A/G] NM_030882,NM_145637 APOL2,APOL2 EXON Missense_T279I,Missense_T279I exm1604072 22 36623731 [T/C] NM_030882,NM_145637 APOL2,APOL2 EXON Missense_I245V,Missense_I245V exm1604084 22 36623898 [A/G] NM_030882,NM_145637 APOL2,APOL2 EXON Missense_T189I,Missense_T189I exm1604085 22 36623902 [T/C] NM_030882,NM_145637 APOL2,APOL2 EXON Missense_G188S,Missense_G188S exm1604089 22 36623920 [A/G] NM_030882,NM_145637 APOL2,APOL2 EXON Missense_R182C,Missense_R182C exm1604091 22 36623931 [T/C] NM_030882,NM_145637 APOL2,APOL2 EXON Missense_R178Q,Missense_R178Q exm1604095 22 36623980 [T/C] NM_030882,NM_145637 APOL2,APOL2 EXON Missense_A162T,Missense_A162T exm1604096 22 36623988 [A/G] NM_030882,NM_145637 APOL2,APOL2 EXON Missense_A159V,Missense_A159V exm1604097 22 36624005 [T/C] NM_030882,NM_145637 APOL2,APOL2 EXON Missense_M153I,Missense_M153I exm1604101 22 36624073 [T/A] NM_030882,NM_145637 APOL2,APOL2 EXON Missense_T131S,Missense_T131S exm1604103 22 36624123 [A/G] NM_030882,NM_145637 APOL2,APOL2 EXON Missense_T114I,Missense_T114I exm1604106 22 36624231 [T/C] NM_030882,NM_145637 APOL2,APOL2 EXON Missense_R78K,Missense_R78K exm1604107 22 36624242 [G/C] NM_030882,NM_145637 APOL2,APOL2 EXON Missense_D74E,Missense_D74E exm1604111 22 36624307 [A/G] NM_030882,NM_145637 APOL2,APOL2 EXON Missense_R53C,Missense_R53C exm1604120 22 36627504 [T/C] NM_030882,NM_145637 APOL2,APOL2 EXON Missense_I7V,Missense_I7V exm1604136 22 36651030 [T/C] NM_001136540,NM_145343,NM_003661,NM_001136541 APOL1,APOL1,APOL1,APOL1 EXON Missense_S10F,Missense_S26F,Missense_S10F,Missense_S10F exm1604143 22 36653403 [A/G] NM_001136540,NM_145343,NM_003661,NM_001136541 APOL1,APOL1,APOL1,APOL1 EXON Missense_D46G,Missense_D62G,Missense_D46G,Missense_D28G exm1604151 22 36657740 [A/G] NM_001136540,NM_145343,NM_003661,NM_001136541 APOL1,APOL1,APOL1,APOL1 EXON Missense_G96R,Missense_G112R,Missense_G96R,Missense_G78R exm1604159 22 36661330 [A/G] NM_001136540,NM_145343,NM_003661,NM_001136541 APOL1,APOL1,APOL1,APOL1 EXON Missense_E150K,Missense_E166K,Missense_E150K,Missense_E132K exm1604162 22 36661354 [T/C] NM_001136540,NM_145343,NM_003661,NM_001136541 APOL1,APOL1,APOL1,APOL1 EXON Missense_L158F,Missense_L174F,Missense_L158F,Missense_L140F exm1604163 22 36661358 [A/G] NM_001136540,NM_145343,NM_003661,NM_001136541 APOL1,APOL1,APOL1,APOL1 EXON Missense_R159H,Missense_R175H,Missense_R159H,Missense_R141H exm1604169 22 36661459 [A/G] NM_001136540,NM_145343,NM_003661,NM_001136541 APOL1,APOL1,APOL1,APOL1 EXON Missense_G193S,Missense_G209S,Missense_G193S,Missense_G175S exm1604172 22 36661566 [A/G] NM_001136540,NM_145343,NM_003661,NM_001136541 APOL1,APOL1,APOL1,APOL1 EXON Missense_M228I,Missense_M244I,Missense_M228I,Missense_M210I exm1604173 22 36661573 [A/G] NM_001136540,NM_145343,NM_003661,NM_001136541 APOL1,APOL1,APOL1,APOL1 EXON Missense_G231R,Missense_G247R,Missense_G231R,Missense_G213R exm1604176 22 36661646 [A/G] NM_001136540,NM_145343,NM_003661,NM_001136541 APOL1,APOL1,APOL1,APOL1 EXON Missense_R255K,Missense_R271K,Missense_R255K,Missense_R237K exm2008570 22 36661649 [A/G] NM_001136540,NM_145343,NM_003661,NM_001136541 APOL1,APOL1,APOL1,APOL1 EXON Missense_E256G,Missense_E272G,Missense_E256G,Missense_E238G exm1604179 22 36661674 [A/C] NM_001136540,NM_145343,NM_003661,NM_001136541 APOL1,APOL1,APOL1,APOL1 EXON Missense_N264K,Missense_N280K,Missense_N264K,Missense_N246K exm1604182 22 36661691 [A/G] NM_001136540,NM_145343,NM_003661,NM_001136541 APOL1,APOL1,APOL1,APOL1 EXON Missense_G270D,Missense_G286D,Missense_G270D,Missense_G252D exm1604187 22 36661733 [A/G] NM_001136540,NM_145343,NM_003661,NM_001136541 APOL1,APOL1,APOL1,APOL1 EXON Missense_R284H,Missense_R300H,Missense_R284H,Missense_R266H exm1604192 22 36661796 [A/G] NM_001136540,NM_145343,NM_003661,NM_001136541 APOL1,APOL1,APOL1,APOL1 EXON Missense_R305Q,Missense_R321Q,Missense_R305Q,Missense_R287Q exm1604200 22 36661891 [A/G] NM_001136540,NM_145343,NM_003661,NM_001136541 APOL1,APOL1,APOL1,APOL1 EXON Missense_D337N,Missense_D353N,Missense_D337N,Missense_D319N exm1604201 22 36661906 [A/G] NM_001136540,NM_145343,NM_003661,NM_001136541 APOL1,APOL1,APOL1,APOL1 EXON Missense_S342G,Missense_S358G,Missense_S342G,Missense_S324G exm1604205 22 36661945 [A/G] NM_001136540,NM_145343,NM_003661,NM_001136541 APOL1,APOL1,APOL1,APOL1 EXON Missense_E355K,Missense_E371K,Missense_E355K,Missense_E337K exm1604211 22 36662034 [T/G] NM_001136540,NM_145343,NM_003661,NM_001136541 APOL1,APOL1,APOL1,APOL1 EXON Missense_I384M,Missense_I400M,Missense_I384M,Missense_I366M exm1604212 22 36662046 [T/G] NM_001136540,NM_145343,NM_003661,NM_001136541 APOL1,APOL1,APOL1,APOL1 EXON Missense_N388K,Missense_N404K,Missense_N388K,Missense_N370K exm1604213 22 36662047 [A/T] NM_001136540,NM_145343,NM_003661,NM_001136541 APOL1,APOL1,APOL1,APOL1 EXON Missense_Y389N,Missense_Y405N,Missense_Y389N,Missense_Y371N exm2008574 22 36662063 [G/C] NM_001136540,NM_145343,NM_003661,NM_001136541 APOL1,APOL1,APOL1,APOL1 EXON Missense_A394G,Missense_A410G,Missense_A394G,Missense_A376G exm1604216 22 36662068 [T/C] NM_001136540,NM_145343,NM_003661,NM_001136541 APOL1,APOL1,APOL1,APOL1 EXON Nonsense_Q396X,Nonsense_Q412X,Nonsense_Q396X,Nonsense_Q378X exm1604221 22 36678719 [T/C] NM_002473 MYH9 EXON Missense_E1960K exm1604225 22 36678782 [T/C] NM_002473 MYH9 EXON Missense_A1939T exm1604229 22 36678809 [T/C] NM_002473 MYH9 EXON Missense_V1930M exm-rs735854 22 36679058 [T/C] NM_002473 MYH9 Silent exm1604246 22 36680499 [C/G] NM_002473 MYH9 EXON Missense_L1848V exm1604252 22 36681272 [T/C] NM_002473 MYH9 EXON Missense_K1793R exm1604253 22 36681327 [T/C] NM_002473 MYH9 EXON Missense_K1775E exm1604274 22 36682799 [T/C] NM_002473 MYH9 EXON Missense_K1676E exm1604280 22 36682873 [A/G] NM_002473 MYH9 EXON Missense_M1651T exm1604285 22 36684354 [T/C] NM_002473 MYH9 EXON Missense_I1626V exm1604292 22 36684790 [T/G] NM_002473 MYH9 EXON Missense_K1585Q exm1604293 22 36684816 [T/C] NM_002473 MYH9 EXON Missense_R1576Q exm1604295 22 36684879 [T/C] NM_002473 MYH9 EXON Missense_K1555R exm1604300 22 36685177 [A/G] NM_002473 MYH9 EXON Missense_T1504M exm1604307 22 36685292 [A/G] NM_002473 MYH9 EXON Missense_R1466W exm1604313 22 36688151 [T/C] NM_002473 MYH9 EXON Missense_D1409N exm1604315 22 36688178 [A/G] NM_002473 MYH9 EXON Missense_R1400W exm1604320 22 36689446 [A/G] NM_002473 MYH9 EXON Missense_R1342W exm1604328 22 36689909 [T/C] NM_002473 MYH9 EXON Missense_V1280M exm1604348 22 36691696 [A/G] NM_002473 MYH9 EXON Missense_S1114P exm1604366 22 36696184 [T/G] NM_002473 MYH9 EXON Missense_K989Q exm1604368 22 36696277 [T/C] NM_002473 MYH9 EXON Missense_A958T exm1604374 22 36696964 [A/G] NM_002473 MYH9 EXON Missense_V924A exm1604382 22 36697620 [A/G] NM_002473 MYH9 EXON Missense_A864V exm1604392 22 36700087 [T/C] NM_002473 MYH9 EXON Missense_V782I exm1604393 22 36700088 [G/C] NM_002473 MYH9 EXON Missense_D781E exm2008688 22 36714301 [T/C] NM_002473 MYH9 EXON Missense_R393H exm1604465 22 36716349 [T/C] NM_002473 MYH9 EXON Missense_I310V exm1604469 22 36716407 [A/G] NM_002473 MYH9 EXON Synonymous_T290T exm2008706 22 36717851 [T/C] NM_002473 MYH9 EXON Missense_I241V exm1604495 22 36745146 [A/G] NM_002473 MYH9 EXON Missense_L46F exm1604498 22 36745250 [T/C] NM_002473 MYH9 EXON Missense_Y11C exm1604511 22 36872818 [T/C] NM_012473 TXN2 EXON Missense_D117N exm2008744 22 36876729 [T/C] NM_012473 TXN2 EXON Missense_I52M exm1604535 22 36886060 [A/G] NM_024955,NM_001102371 FOXRED2,FOXRED2 EXON Missense_L684F,Missense_L684F exm1604536 22 36886078 [T/C] NM_024955,NM_001102371 FOXRED2,FOXRED2 EXON Missense_D678N,Missense_D678N exm1604542 22 36886116 [C/G] NM_024955,NM_001102371 FOXRED2,FOXRED2 EXON Missense_G665A,Missense_G665A exm1604552 22 36886199 [G/C] NM_024955,NM_001102371 FOXRED2,FOXRED2 EXON Missense_E637D,Missense_E637D exm1604580 22 36892240 [A/C] NM_024955,NM_001102371 FOXRED2,FOXRED2 EXON Missense_F466L,Missense_F466L exm1604582 22 36894054 [A/C] NM_024955,NM_001102371 FOXRED2,FOXRED2 EXON Missense_V456F,Missense_V456F exm1604584 22 36894069 [T/C] NM_024955,NM_001102371 FOXRED2,FOXRED2 EXON Missense_G451S,Missense_G451S exm1604589 22 36894133 [G/C] NM_024955,NM_001102371 FOXRED2,FOXRED2 EXON Missense_I429M,Missense_I429M exm1604593 22 36894162 [T/C] NM_024955,NM_001102371 FOXRED2,FOXRED2 EXON Missense_V420I,Missense_V420I exm1604594 22 36894173 [T/C] NM_024955,NM_001102371 FOXRED2,FOXRED2 EXON Missense_R416H,Missense_R416H exm1604597 22 36894189 [A/G] NM_024955,NM_001102371 FOXRED2,FOXRED2 EXON Missense_R411W,Missense_R411W exm1604610 22 36897341 [A/G] NM_024955,NM_001102371 FOXRED2,FOXRED2 EXON Missense_S388L,Missense_S388L exm1604613 22 36897383 [T/C] NM_024955,NM_001102371 FOXRED2,FOXRED2 EXON Missense_K374R,Missense_K374R exm1604618 22 36900186 [G/C] NM_024955,NM_001102371 FOXRED2,FOXRED2 EXON Missense_I336M,Missense_I336M exm1604622 22 36900230 [T/C] NM_024955,NM_001102371 FOXRED2,FOXRED2 EXON Missense_D322N,Missense_D322N exm1604625 22 36900263 [A/G] NM_024955,NM_001102371 FOXRED2,FOXRED2 EXON Nonsense_Q311X,Nonsense_Q311X exm1604627 22 36900271 [T/C] NM_024955,NM_001102371 FOXRED2,FOXRED2 EXON Missense_N308S,Missense_N308S exm1604632 22 36900343 [A/G] NM_024955,NM_001102371 FOXRED2,FOXRED2 EXON Missense_T284M,Missense_T284M exm1604640 22 36900679 [T/C] NM_024955,NM_001102371 FOXRED2,FOXRED2 EXON Missense_R221H,Missense_R221H exm2235619 22 36900725 [T/C] NM_024955,NM_001102371 FOXRED2,FOXRED2 EXON Missense_V206M,Missense_V206M exm1604643 22 36900774 [A/C] NM_024955,NM_001102371 FOXRED2,FOXRED2 EXON Missense_Q189H,Missense_Q189H exm1604646 22 36900806 [A/G] NM_024955,NM_001102371 FOXRED2,FOXRED2 EXON Missense_F179L,Missense_F179L exm1604647 22 36900812 [T/C] NM_024955,NM_001102371 FOXRED2,FOXRED2 EXON Missense_V177I,Missense_V177I exm1604663 22 36902259 [A/G] NM_024955,NM_001102371 FOXRED2,FOXRED2 EXON Missense_R71C,Missense_R71C exm1604751 22 36922102 [T/C] NM_003753 EIF3D EXON Missense_E23K exm1604766 22 36960730 [T/C] NM_006078 CACNG2 EXON Missense_A214T exm1604796 22 37154413 [A/G] NM_001177701,NM_006860 IFT27,IFT27 EXON Missense_A168V,Missense_A167V exm1604801 22 37158985 [A/G] NM_001177701,NM_006860 IFT27,IFT27 EXON Missense_A142V,Missense_A141V exm1604804 22 37159006 [G/C] NM_001177701,NM_006860 IFT27,IFT27 EXON Nonsense_S135X,Nonsense_S134X exm1604806 22 37159025 [T/C] NM_001177701,NM_006860 IFT27,IFT27 EXON Missense_G129S,Missense_G128S exm1604815 22 37159992 [T/C] NM_001177701,NM_006860 IFT27,IFT27 EXON Missense_R108Q,Missense_R107Q exm1604816 22 37159993 [A/G] NM_001177701,NM_006860 IFT27,IFT27 EXON Missense_R108W,Missense_R107W exm1604828 22 37163367 [T/C] NM_001177701,NM_006860 IFT27,IFT27 EXON Missense_D53N,Missense_D52N exm1604830 22 37163833 [A/G] NM_001177701,NM_006860 IFT27,IFT27 EXON Synonymous_Y36Y,Synonymous_Y35Y exm2008878 22 37163864 [T/C] NM_001177701,NM_006860 IFT27,IFT27 EXON Missense_R26H,Missense_R25H exm2273033 22 37196680 [T/C] exm1604850 22 37209691 [A/G] NM_002854 PVALB EXON Synonymous_D101D exm1604854 22 37211148 [T/C] NM_002854 PVALB EXON Missense_G65R exm1604855 22 37211163 [T/C] NM_002854 PVALB EXON Missense_E60K exm1604859 22 37211219 [A/G] NM_002854 PVALB EXON Missense_A41V exm1604875 22 37260104 [T/C] NM_013416,NM_000631 NCF4,NCF4 EXON Missense_P17L,Missense_P17L exm1604883 22 37260160 [A/C] NM_013416,NM_000631 NCF4,NCF4 EXON Missense_T36P,Missense_T36P exm1604888 22 37261015 [T/C] NM_013416,NM_000631 NCF4,NCF4 EXON Missense_R58C,Missense_R58C exm1604893 22 37261097 [A/C] NM_013416,NM_000631 NCF4,NCF4 EXON Missense_T85N,Missense_T85N exm1604907 22 37266572 [A/G] NM_013416,NM_000631 NCF4,NCF4 EXON Missense_R153H,Missense_R153H exm1604908 22 37267701 [A/G] NM_013416,NM_000631 NCF4,NCF4 EXON Missense_V160M,Missense_V160M exm1604916 22 37268367 [A/T] NM_013416,NM_000631 NCF4,NCF4 Silent,Silent exm1604917 22 37268444 [T/C] NM_013416,NM_000631 NCF4,NCF4 EXON Missense_R202W,Missense_R202W exm1604923 22 37271737 [A/G] NM_013416,NM_000631 NCF4,NCF4 EXON Missense_V224M,Missense_V224M exm1604934 22 37271875 [T/C] NM_013416,NM_000631 NCF4,NCF4 EXON Nonsense_R270X,Silent exm1604935 22 37271876 [A/G] NM_013416,NM_000631 NCF4,NCF4 EXON Missense_R270Q,Silent exm1604947 22 37272064 [A/C] NM_013416,NM_000631 NCF4,NCF4 EXON Missense_P333T,Silent exm1604952 22 37273670 [T/G] NM_013416,NM_000631 NCF4,NCF4 EXON Silent,Missense_R275S exm1604953 22 37273671 [T/C] NM_013416,NM_000631 NCF4,NCF4 EXON Silent,Missense_R276W exm1604959 22 37273756 [A/C] NM_013416,NM_000631 NCF4,NCF4 EXON Silent,Missense_A304E exm2008947 22 37273779 [T/G] NM_013416,NM_000631 NCF4,NCF4 EXON Silent,Missense_G312C exm2008961 22 37318309 [A/C] NM_000395 CSF2RB EXON Missense_S20R exm1604982 22 37319327 [A/C] NM_000395 CSF2RB EXON Missense_T40P exm1604985 22 37319358 [T/C] NM_000395 CSF2RB EXON Missense_T50I exm1604987 22 37319378 [A/G] NM_000395 CSF2RB EXON Missense_V57I exm1604994 22 37322102 [A/G] NM_000395 CSF2RB EXON Missense_V92M exm1605003 22 37325703 [A/G] NM_000395 CSF2RB EXON Missense_N191S exm1605005 22 37325726 [T/C] NM_000395 CSF2RB EXON Missense_P199S exm1605008 22 37325775 [A/G] NM_000395 CSF2RB EXON Missense_R215H exm1605014 22 37326443 [G/C] NM_000395 CSF2RB EXON Missense_E249Q exm1605017 22 37326467 [A/G] NM_000395 CSF2RB EXON Missense_V257M exm1605022 22 37326749 [G/C] NM_000395 CSF2RB EXON Missense_L297V exm1605027 22 37326794 [A/G] NM_000395 CSF2RB EXON Missense_D312N exm1605030 22 37326801 [T/C] NM_000395 CSF2RB EXON Missense_A314V exm1605036 22 37328864 [A/G] NM_000395 CSF2RB EXON Missense_R357H exm1605050 22 37330000 [A/G] NM_000395 CSF2RB EXON Missense_E427K exm1605076 22 37332642 [A/G] NM_000395 CSF2RB EXON Missense_G506R exm1605077 22 37332649 [A/C] NM_000395 CSF2RB EXON Missense_P508H exm1605090 22 37333657 [A/C] NM_000395 CSF2RB EXON Missense_P603T exm1605104 22 37333804 [A/G] NM_000395 CSF2RB EXON Missense_V652M exm1605108 22 37333900 [G/C] NM_000395 CSF2RB EXON Missense_G684R exm1605138 22 37334281 [A/G] NM_000395 CSF2RB EXON Missense_E811K exm1605144 22 37334351 [T/C] NM_000395 CSF2RB EXON Missense_S834L exm1605153 22 37334458 [A/G] NM_000395 CSF2RB EXON Missense_V870I exm1605160 22 37387257 [T/C] NM_001163857,NM_178552 TEX33,TEX33 EXON Missense_Y269C,Missense_Y184C exm1605165 22 37387316 [T/C] NM_001163857,NM_178552 TEX33,TEX33 EXON Synonymous_G249G,Synonymous_G164G exm1605173 22 37395884 [A/G] NM_001163857,NM_178552 TEX33,TEX33 EXON Nonsense_R211X,Nonsense_R126X exm1605181 22 37396024 [C/G] NM_001163857,NM_178552 TEX33,TEX33 EXON Missense_A164G,Missense_A79G exm1605182 22 37397876 [A/G] NM_001163857,NM_178552 TEX33,TEX33 Silent,Silent exm1605188 22 37397934 [T/C] NM_001163857,NM_178552 TEX33,TEX33 EXON Missense_N145D,Missense_N60D exm1605189 22 37397942 [A/C] NM_001163857,NM_178552 TEX33,TEX33 EXON Missense_I142S,Missense_I57S exm1605192 22 37397969 [A/G] NM_001163857,NM_178552 TEX33,TEX33 EXON Missense_T133M,Missense_T48M exm1605198 22 37398011 [A/G] NM_001163857,NM_178552 TEX33,TEX33 EXON Missense_T119M,Missense_T34M exm1605201 22 37398062 [A/G] NM_001163857,NM_178552 TEX33,TEX33 EXON Missense_S102L,Missense_S17L exm1605202 22 37398080 [A/G] NM_001163857,NM_178552 TEX33,TEX33 EXON Missense_A96V,Missense_A11V exm1605203 22 37398102 [A/G] NM_001163857,NM_178552 TEX33,TEX33 EXON Nonsense_Q89X,Nonsense_Q4X exm1605208 22 37398195 [T/C] NM_001163857,NM_178552 TEX33,TEX33 EXON Missense_A58T,Silent exm1605213 22 37398242 [T/G] NM_001163857,NM_178552 TEX33,TEX33 EXON Missense_K42T,Silent exm1605219 22 37407109 [C/G] NM_003312,NM_001270483 TST,TST EXON Missense_P285A,Missense_P285A exm1605227 22 37407193 [T/C] NM_003312,NM_001270483 TST,TST EXON Missense_V257M,Missense_V257M exm1605234 22 37407295 [T/C] NM_003312,NM_001270483 TST,TST EXON Missense_E223K,Missense_E223K exm1605237 22 37407346 [A/G] NM_003312,NM_001270483 TST,TST EXON Missense_R206C,Missense_R206C exm1605239 22 37414181 [A/G] NM_003312,NM_001270483 TST,TST EXON Missense_V198A,Missense_V198A exm1605248 22 37414283 [A/G] NM_003312,NM_001270483 TST,TST EXON Missense_T164I,Missense_T164I exm1605252 22 37414326 [A/G] NM_003312,NM_001270483 TST,TST EXON Missense_P150S,Missense_P150S exm1605255 22 37414404 [T/C] NM_003312,NM_001270483 TST,TST EXON Missense_V124I,Missense_V124I exm1605257 22 37414468 [T/G] NM_003312,NM_001270483 TST,TST EXON Missense_E102D,Missense_E102D exm1605266 22 37414724 [C/G] NM_003312,NM_001270483 TST,TST EXON Missense_A17G,Missense_A17G exm1605275 22 37420423 [T/G] NM_001013436,NM_001130517,NM_021126 MPST,MPST,MPST EXON Missense_G56V,Missense_G56V,Missense_G76V exm1605280 22 37420504 [T/C] NM_001013436,NM_001130517,NM_021126 MPST,MPST,MPST EXON Missense_A83V,Missense_A83V,Missense_A103V exm2009079 22 37420511 [A/C] NM_001013436,NM_001130517,NM_021126 MPST,MPST,MPST EXON Nonsense_Y85X,Nonsense_Y85X,Nonsense_Y105X exm2235628 22 37425307 [T/G] NM_001013436,NM_001130517,NM_021126 MPST,MPST,MPST EXON Missense_F216V,Missense_F216V,Missense_F236V exm1605307 22 37425332 [A/G] NM_001013436,NM_001130517,NM_021126 MPST,MPST,MPST EXON Missense_K224R,Missense_K224R,Missense_K244R exm1605334 22 37452392 [A/G] NM_024681 KCTD17 EXON Missense_G118S exm1605351 22 37457585 [A/G] NM_024681 KCTD17 EXON Missense_R247H exm1605352 22 37457647 [T/C] NM_024681 KCTD17 EXON Missense_R268C exm1605358 22 37458587 [A/G] NM_024681 KCTD17 EXON Missense_G283R exm1605359 22 37458605 [C/G] NM_024681 KCTD17 EXON Missense_H289D exm1605363 22 37462155 [T/C] NM_153609 TMPRSS6 EXON Missense_G801S exm1605365 22 37462173 [T/C] NM_153609 TMPRSS6 EXON Missense_V795I exm-rs2235321 22 37462926 [A/G] NM_153609 TMPRSS6 EXON Synonymous_Y739Y exm1605376 22 37462936 [A/G] NM_153609 TMPRSS6 EXON Missense_V736A exm1605379 22 37462988 [T/C] NM_153609 TMPRSS6 EXON Missense_A719T exm1605386 22 37465121 [A/C] NM_153609 TMPRSS6 EXON Missense_R711L exm1605401 22 37466563 [T/C] NM_153609 TMPRSS6 EXON Missense_R610H exm1605411 22 37466678 [T/C] NM_153609 TMPRSS6 EXON Missense_G572S exm1605415 22 37466992 [A/G] NM_153609 TMPRSS6 EXON Missense_P555S exm1605417 22 37466995 [A/G] NM_153609 TMPRSS6 EXON Missense_R554W exm1605419 22 37467001 [T/C] NM_153609 TMPRSS6 EXON Missense_D552N exm-rs5756506 22 37467392 [G/C] NM_153609 TMPRSS6 Silent exm-rs4820268 22 37469591 [A/G] NM_153609 TMPRSS6 EXON Synonymous_D521D exm1605426 22 37469634 [A/G] NM_153609 TMPRSS6 EXON Missense_P507L exm-rs2413450 22 37470224 [T/C] NM_153609 TMPRSS6 Silent exm1605440 22 37471208 [A/G] NM_153609 TMPRSS6 EXON Missense_R446W exm1605446 22 37471289 [T/C] NM_153609 TMPRSS6 EXON Missense_A419T exm2235630 22 37480861 [A/G] NM_153609 TMPRSS6 EXON Missense_T340M exm1605470 22 37482338 [T/G] NM_153609 TMPRSS6 EXON Missense_P329T exm2009143 22 37482353 [T/C] NM_153609 TMPRSS6 EXON Missense_V324M exm1605477 22 37482452 [T/C] NM_153609 TMPRSS6 EXON Missense_G291S exm1605478 22 37482458 [A/C] NM_153609 TMPRSS6 EXON Missense_V289L exm1605480 22 37485618 [A/G] NM_153609 TMPRSS6 EXON Missense_S288L exm1605488 22 37485724 [T/C] NM_153609 TMPRSS6 EXON Missense_K253E exm1605494 22 37491627 [T/C] NM_153609 TMPRSS6 EXON Missense_S208G exm1605505 22 37492005 [A/G] NM_153609 TMPRSS6 EXON Missense_S186L exm1605510 22 37492078 [A/G] NM_153609 TMPRSS6 EXON Missense_R162C exm1605517 22 37492731 [A/G] NM_153609 TMPRSS6 EXON Missense_R130C exm1605518 22 37492733 [A/G] NM_153609 TMPRSS6 EXON Missense_T129I exm1605526 22 37494485 [A/G] NM_153609 TMPRSS6 EXON Missense_R112C exm1605529 22 37494530 [A/G] NM_153609 TMPRSS6 EXON Missense_R97C exm1605535 22 37494580 [A/G] NM_153609 TMPRSS6 EXON Missense_A80V exm1605552 22 37499393 [A/G] NM_153609 TMPRSS6 EXON Missense_A31V exm1605569 22 37524140 [A/G] NM_000878 IL2RB EXON Missense_V551A exm1605584 22 37524483 [T/C] NM_000878 IL2RB EXON Missense_G437S exm2275195 22 37524600 [T/C] NM_000878 IL2RB EXON Missense_G398R exm1605591 22 37524619 [T/G] NM_000878 IL2RB EXON Missense_D391E exm2009188 22 37524639 [T/C] NM_000878 IL2RB EXON Missense_D385N exm1605595 22 37524662 [C/G] NM_000878 IL2RB EXON Missense_A377G exm1605600 22 37524774 [T/G] NM_000878 IL2RB EXON Missense_Q340K exm1605603 22 37524843 [T/C] NM_000878 IL2RB EXON Missense_G317S exm1605609 22 37531375 [T/C] NM_000878 IL2RB EXON Missense_G271R exm1605618 22 37532283 [T/C] NM_000878 IL2RB EXON Missense_R230G exm1605622 22 37532381 [A/G] NM_000878 IL2RB EXON Missense_T197M exm1605627 22 37533705 [T/G] NM_000878 IL2RB EXON Missense_E153D exm-rs2284033 22 37534034 [A/G] NM_000878 IL2RB Silent exm2276842 22 37535157 [A/G] NM_000878 IL2RB EXON Missense_L130F exm1605634 22 37538508 [A/G] NM_000878 IL2RB EXON Missense_S83F exm1605635 22 37538521 [T/C] NM_000878 IL2RB EXON Missense_V79M exm1605648 22 37540133 [A/G] NM_000878 IL2RB EXON Missense_A27V exm1605649 22 37540149 [A/G] NM_000878 IL2RB EXON Missense_S22P exm2235634 22 37540182 [T/G] NM_000878 IL2RB EXON Missense_P11T exm1605651 22 37540185 [G/C] NM_000878 IL2RB EXON Missense_L10V exm1605652 22 37540187 [T/C] NM_000878 IL2RB EXON Missense_R9H exm1605654 22 37540199 [C/G] NM_000878 IL2RB EXON Missense_A5G exm-rs743777 22 37551607 [A/G] exm1605666 22 37578337 [T/C] NM_182486,NM_031910 C1QTNF6,C1QTNF6 EXON Missense_R243H,Missense_R243H exm2276892 22 37578345 [A/G] NM_182486,NM_031910 C1QTNF6,C1QTNF6 EXON Synonymous_Y240Y,Synonymous_Y240Y exm1605669 22 37578380 [T/C] NM_182486,NM_031910 C1QTNF6,C1QTNF6 EXON Missense_M229V,Missense_M229V exm1605670 22 37578388 [T/C] NM_182486,NM_031910 C1QTNF6,C1QTNF6 EXON Missense_R226H,Missense_R226H exm1605675 22 37578488 [A/C] NM_182486,NM_031910 C1QTNF6,C1QTNF6 EXON Missense_F193V,Missense_F193V exm2009222 22 37578570 [A/G] NM_182486,NM_031910 C1QTNF6,C1QTNF6 EXON Synonymous_F165F,Synonymous_F165F exm1605685 22 37578652 [A/G] NM_182486,NM_031910 C1QTNF6,C1QTNF6 EXON Missense_P138L,Missense_P138L exm1605699 22 37581353 [C/G] NM_182486,NM_031910 C1QTNF6,C1QTNF6 EXON Missense_P65R,Missense_P65R exm1605700 22 37581383 [T/C] NM_182486,NM_031910 C1QTNF6,C1QTNF6 EXON Missense_G55D,Missense_G55D exm1605707 22 37581477 [T/C] NM_182486,NM_031910 C1QTNF6,C1QTNF6 EXON Missense_A24T,Missense_A24T exm1605711 22 37581485 [A/C] NM_182486,NM_031910 C1QTNF6,C1QTNF6 EXON Missense_G21V,Missense_G21V exm1605714 22 37584228 [A/G] NM_182486,NM_031910 C1QTNF6,C1QTNF6 EXON Missense_S9L,Missense_S9L exm-rs229541 22 37591318 [A/G] exm1605718 22 37602602 [T/C] NM_001051 SSTR3 EXON Missense_R414H exm1605719 22 37602603 [A/G] NM_001051 SSTR3 EXON Missense_R414C exm1605736 22 37602836 [T/C] NM_001051 SSTR3 EXON Missense_R336H exm1605737 22 37602837 [A/G] NM_001051 SSTR3 EXON Missense_R336C exm2235635 22 37603073 [T/C] NM_001051 SSTR3 EXON Missense_R257H exm1605755 22 37603142 [T/C] NM_001051 SSTR3 EXON Missense_R234H exm1605760 22 37603254 [T/C] NM_001051 SSTR3 EXON Missense_E197K exm1605768 22 37603326 [T/C] NM_001051 SSTR3 EXON Missense_V173M exm1605772 22 37603349 [A/G] NM_001051 SSTR3 EXON Missense_A165V exm1605788 22 37603493 [T/C] NM_001051 SSTR3 EXON Missense_R117H exm1605798 22 37603710 [T/C] NM_001051 SSTR3 EXON Missense_V45I exm1605800 22 37603733 [A/G] NM_001051 SSTR3 EXON Missense_P37L exm1605802 22 37603745 [A/G] NM_001051 SSTR3 EXON Missense_A33V exm1605809 22 37603784 [A/G] NM_001051 SSTR3 EXON Missense_S20L exm-rs13053175 22 37613309 [T/C] exm2264734 22 37615360 [A/C] exm2264743 22 37640673 [A/C] exm1605874 22 37688667 [A/G] NM_013385 CYTH4 EXON Missense_A9T exm1605888 22 37692092 [A/G] NM_013385 CYTH4 EXON Missense_M74V exm1605897 22 37693653 [A/G] NM_013385 CYTH4 EXON Missense_D95N exm1605899 22 37693689 [A/C] NM_013385 CYTH4 EXON Missense_N107H exm1605904 22 37695286 [A/G] NM_013385 CYTH4 EXON Missense_V125I exm1605910 22 37696952 [T/C] NM_013385 CYTH4 EXON Missense_F147L exm1605917 22 37699387 [A/G] NM_013385 CYTH4 EXON Missense_V214M exm2235639 22 37699418 [A/G] NM_013385 CYTH4 EXON Missense_S224N exm1605923 22 37699429 [A/G] NM_013385 CYTH4 EXON Missense_E228K exm1605924 22 37699442 [A/G] NM_013385 CYTH4 EXON Missense_R232Q exm1605958 22 37709536 [T/C] NM_013385 CYTH4 EXON Missense_I390T exm1605973 22 37769260 [T/C] NM_052906 ELFN2 EXON Missense_R772H exm1605983 22 37769377 [A/G] NM_052906 ELFN2 EXON Missense_P733L exm1605984 22 37769393 [T/C] NM_052906 ELFN2 EXON Missense_V728M exm1605995 22 37769662 [T/C] NM_052906 ELFN2 EXON Missense_K638R exm1606017 22 37770044 [T/C] NM_052906 ELFN2 EXON Missense_G511R exm1606018 22 37770047 [T/C] NM_052906 ELFN2 EXON Missense_G510S exm1606027 22 37770154 [T/G] NM_052906 ELFN2 EXON Missense_P474H exm1606028 22 37770155 [A/G] NM_052906 ELFN2 EXON Missense_P474S exm1606034 22 37770278 [T/C] NM_052906 ELFN2 EXON Missense_N433D exm1606039 22 37770356 [T/C] NM_052906 ELFN2 EXON Missense_G407S exm1606050 22 37770469 [T/C] NM_052906 ELFN2 EXON Missense_R369H exm1606051 22 37770517 [A/G] NM_052906 ELFN2 EXON Missense_A353V exm1606058 22 37770661 [A/G] NM_052906 ELFN2 EXON Missense_T305M exm1606060 22 37770699 [A/C] NM_052906 ELFN2 EXON Missense_D292E exm1606067 22 37770782 [T/C] NM_052906 ELFN2 EXON Missense_A265T exm1606069 22 37770790 [T/G] NM_052906 ELFN2 EXON Missense_S262Y exm2275196 22 37770812 [A/C] NM_052906 ELFN2 EXON Missense_V255L exm2009317 22 37770821 [T/C] NM_052906 ELFN2 EXON Missense_A252T exm1606083 22 37770999 [T/G] NM_052906 ELFN2 EXON Missense_D192E exm1606098 22 37771348 [T/C] NM_052906 ELFN2 EXON Missense_N76S exm1606108 22 37866006 [A/G] NM_001166343,NR_029413,NM_002405 MFNG,MFNG,MFNG EXON Nonsense_R307X,Silent,Nonsense_R321X exm1606112 22 37866063 [A/G] NM_001166343,NR_029413,NM_002405 MFNG,MFNG,MFNG EXON Missense_R288C,Silent,Missense_R302C exm1606116 22 37868499 [A/G] NM_001166343,NR_029413,NM_002405 MFNG,MFNG,MFNG EXON Missense_P280L,Silent,Missense_P294L exm1606125 22 37870681 [A/G] NM_001166343,NR_029413,NM_002405 MFNG,MFNG,MFNG EXON Missense_R214W,Silent,Missense_R228W exm2009334 22 37870707 [T/C] NM_001166343,NR_029413,NM_002405 MFNG,MFNG,MFNG EXON Missense_R205H,Silent,Missense_R219H exm1606134 22 37873012 [A/C] NM_001166343,NR_029413,NM_002405 MFNG,MFNG,MFNG EXON Missense_V176G,Silent,Missense_V190G exm1606145 22 37875492 [A/G] NM_001166343,NR_029413,NM_002405 MFNG,MFNG,MFNG EXON Missense_A137V,Silent,Missense_A151V exm1606150 22 37876233 [A/G] NM_001166343,NR_029413,NM_002405 MFNG,MFNG,MFNG Silent,Silent,Silent exm1606151 22 37876258 [T/G] NM_001166343,NR_029413,NM_002405 MFNG,MFNG,MFNG EXON Missense_D114E,Silent,Missense_D128E exm1606156 22 37876307 [A/G] NM_001166343,NR_029413,NM_002405 MFNG,MFNG,MFNG EXON Missense_A98V,Silent,Missense_A112V exm1606164 22 37881961 [T/C] NM_001166343,NR_029413,NM_002405 MFNG,MFNG,MFNG EXON Synonymous_Q85Q,Silent,Synonymous_Q85Q exm1606171 22 37882128 [C/G] NM_001166343,NR_029413,NM_002405 MFNG,MFNG,MFNG EXON Missense_L30V,Silent,Missense_L30V exm1606172 22 37882149 [A/C] NM_001166343,NR_029413,NM_002405 MFNG,MFNG,MFNG EXON Missense_C23G,Silent,Missense_C23G exm1606174 22 37882197 [G/C] NM_001166343,NR_029413,NM_002405 MFNG,MFNG,MFNG EXON Missense_R7G,Silent,Missense_R7G exm1606179 22 37887241 [C/G] NM_014550 CARD10 EXON Missense_E1019Q exm1606181 22 37887259 [T/C] NM_014550 CARD10 EXON Missense_A1013T exm2009357 22 37888488 [A/G] NM_014550 CARD10 EXON Missense_P902L exm1606201 22 37888801 [A/G] NM_014550 CARD10 EXON Missense_R829W exm1606206 22 37890147 [T/C] NM_014550 CARD10 EXON Missense_V808M exm1606223 22 37891873 [A/G] NM_014550 CARD10 EXON Nonsense_R733X exm1606230 22 37892482 [A/G] NM_014550 CARD10 EXON Missense_T678I exm1606240 22 37893171 [T/C] NM_014550 CARD10 EXON Missense_R601Q exm1606245 22 37898721 [A/G] NM_014550 CARD10 EXON Missense_L559F exm1606248 22 37899198 [T/C] NM_014550 CARD10 EXON Missense_I553V exm1606254 22 37900286 [T/C] NM_014550 CARD10 EXON Missense_K514R exm2009384 22 37902377 [T/C] NM_014550 CARD10 EXON Missense_R402H exm1606273 22 37903883 [T/C] NM_014550 CARD10 EXON Missense_A382T exm1606288 22 37904676 [A/G] NM_014550 CARD10 EXON Missense_P308L exm2268439 22 37905173 [A/G] NM_014550 CARD10 Silent exm1606293 22 37906262 [T/C] NM_014550 CARD10 EXON Missense_R289Q exm1606304 22 37906400 [T/C] NM_014550 CARD10 EXON Missense_R243Q exm1606305 22 37906401 [A/G] NM_014550 CARD10 EXON Missense_R243W exm1606308 22 37912014 [A/G] NM_014550 CARD10 EXON Missense_S222L exm1606317 22 37912254 [T/C] NM_014550 CARD10 EXON Missense_R142Q exm-rs9607469 22 37919267 [A/G] exm1606342 22 37962514 [A/G] NM_152243 CDC42EP1 EXON Missense_R53H exm1606347 22 37962583 [A/G] NM_152243 CDC42EP1 EXON Missense_R76H exm2255155 22 37962740 [T/C] NM_152243 CDC42EP1 EXON Synonymous_A128A exm1606358 22 37962756 [A/G] NM_152243 CDC42EP1 EXON Missense_V134M exm1606359 22 37962781 [A/G] NM_152243 CDC42EP1 EXON Missense_S142N exm1606362 22 37964145 [A/G] NM_152243 CDC42EP1 EXON Missense_R165H exm1606363 22 37964154 [A/G] NM_152243 CDC42EP1 EXON Missense_R168H exm1606366 22 37964180 [T/C] NM_152243 CDC42EP1 EXON Missense_R177W exm1606370 22 37964214 [A/G] NM_152243 CDC42EP1 EXON Missense_R188H exm1606392 22 37964396 [A/G] NM_152243 CDC42EP1 EXON Missense_T249A exm1606410 22 37964618 [A/G] NM_152243 CDC42EP1 EXON Missense_A323T exm1606419 22 37964727 [A/G] NM_152243 CDC42EP1 EXON Missense_R359K exm1606432 22 37966314 [T/C] NM_006498 LGALS2 EXON Missense_V119I exm1606437 22 37966409 [A/G] NM_006498 LGALS2 EXON Missense_T87I exm1606445 22 37966648 [T/C] NM_006498 LGALS2 EXON Missense_G62S exm1606448 22 37966686 [T/C] NM_006498 LGALS2 EXON Missense_R49H exm1606449 22 37966689 [A/G] NM_006498 LGALS2 EXON Missense_P48L exm1606451 22 37966703 [T/G] NM_006498 LGALS2 EXON Missense_N43K exm1606454 22 37966728 [A/G] NM_006498 LGALS2 EXON Missense_L35P exm1606457 22 37967904 [A/G] NM_006498 LGALS2 EXON Missense_P14L exm1606488 22 38016296 [G/C] NM_013365,NM_001001560,NM_001172687,NM_001172688 GGA1,GGA1,GGA1,GGA1 EXON Missense_L119V,Missense_L119V,Missense_L119V,Missense_L46V exm1606494 22 38016825 [A/G] NM_013365,NM_001001560,NM_001172687,NM_001172688 GGA1,GGA1,GGA1,GGA1 EXON Missense_V145I,Missense_V145I,Missense_V145I,Missense_V72I exm1606500 22 38017632 [T/C] NM_013365,NM_001001560,NM_001172687,NM_001172688 GGA1,GGA1,GGA1,GGA1 EXON Missense_R180C,Missense_R180C,Missense_R180C,Missense_R107C exm2009458 22 38019458 [A/G] NM_013365,NM_001001560,NM_001172687,NM_001172688 GGA1,GGA1,GGA1,GGA1 EXON Missense_S245N,Missense_S245N,Missense_S245N,Missense_S172N exm1606515 22 38019602 [A/G] NM_013365,NM_001001560,NM_001172687,NM_001172688 GGA1,GGA1,GGA1,GGA1 EXON Missense_R265Q,Missense_R265Q,Missense_R265Q,Missense_R192Q exm1606523 22 38021882 [A/G] NM_013365,NM_001001560,NM_001172687,NM_001172688 GGA1,GGA1,GGA1,GGA1 EXON Missense_R340H,Silent,Missense_R340H,Missense_R267H exm1606534 22 38026059 [A/G] NM_013365,NM_001001560,NM_001172687,NM_001172688 GGA1,GGA1,GGA1,GGA1 EXON Missense_E405K,Missense_E318K,Missense_E405K,Missense_E332K exm2009471 22 38026075 [T/C] NM_013365,NM_001001560,NM_001172687,NM_001172688 GGA1,GGA1,GGA1,GGA1 EXON Missense_A410V,Missense_A323V,Missense_A410V,Missense_A337V exm2009472 22 38026077 [G/C] NM_013365,NM_001001560,NM_001172687,NM_001172688 GGA1,GGA1,GGA1,GGA1 EXON Missense_Q411E,Missense_Q324E,Missense_Q411E,Missense_Q338E exm2255158 22 38026109 [T/C] NM_013365,NM_001001560,NM_001172687,NM_001172688 GGA1,GGA1,GGA1,GGA1 EXON Synonymous_D421D,Synonymous_D334D,Synonymous_D421D,Synonymous_D348D exm1606542 22 38026945 [A/G] NM_013365,NM_001001560,NM_001172687,NM_001172688 GGA1,GGA1,GGA1,GGA1 EXON Missense_R456Q,Missense_R369Q,Missense_R452Q,Missense_R383Q exm1606545 22 38026992 [A/G] NM_013365,NM_001001560,NM_001172687,NM_001172688 GGA1,GGA1,GGA1,GGA1 EXON Missense_A472T,Missense_A385T,Missense_A468T,Missense_A399T exm1606558 22 38028045 [A/G] NM_013365,NM_001001560,NM_001172687,NM_001172688 GGA1,GGA1,GGA1,GGA1 EXON Missense_R524H,Missense_R437H,Missense_R520H,Missense_R451H exm1606560 22 38028066 [A/G] NM_013365,NM_001001560,NM_001172687,NM_001172688 GGA1,GGA1,GGA1,GGA1 EXON Missense_R531Q,Missense_R444Q,Missense_R527Q,Missense_R458Q exm1606584 22 38028708 [T/G] NM_013365,NM_001001560,NM_001172687,NM_001172688 GGA1,GGA1,GGA1,GGA1 EXON Missense_G637V,Missense_G550V,Missense_G633V,Missense_G564V exm1606608 22 38038616 [C/G] NM_018957 SH3BP1 EXON Missense_S93T exm1606628 22 38039746 [T/C] NM_018957 SH3BP1 EXON Missense_T190M exm1606633 22 38040711 [A/G] NM_018957 SH3BP1 EXON Missense_R229H exm1606640 22 38040958 [A/G] NM_018957 SH3BP1 EXON Missense_G257S exm1606643 22 38041375 [A/G] NM_018957 SH3BP1 EXON Missense_H261R exm1606653 22 38042916 [C/G] NM_018957 SH3BP1 EXON Missense_S339C exm1606655 22 38042938 [T/G] NM_018957 SH3BP1 Silent exm1606672 22 38046173 [T/G] NM_018957 SH3BP1 EXON Missense_L444R exm1606675 22 38046235 [A/G] NM_018957 SH3BP1 EXON Missense_A465T exm1606682 22 38046666 [T/C] NM_018957 SH3BP1 EXON Missense_P511L exm1606683 22 38046672 [T/C] NM_018957 SH3BP1 EXON Missense_P513L exm1606687 22 38046695 [A/C] NM_018957 SH3BP1 EXON Missense_P521T exm2264735 22 38054262 [A/C] exm1606733 22 38061576 [T/G] NM_020315 PDXP EXON Missense_A197S exm1606736 22 38061637 [A/T] NM_020315 PDXP EXON Missense_Y217F exm2255160 22 38061671 [T/C] NM_020315 PDXP EXON Synonymous_I228I exm1606746 22 38061802 [T/C] NM_020315 PDXP EXON Missense_A272V exm1606747 22 38061816 [A/G] NM_020315 PDXP EXON Missense_D277N exm1606768 22 38074614 [A/G] NM_002305 LGALS1 EXON Missense_E72K exm1606779 22 38082417 [C/G] NM_024313 NOL12 EXON Missense_K6N exm1606780 22 38082421 [A/C] NM_024313 NOL12 EXON Missense_K8Q exm1606781 22 38082442 [T/C] NM_024313 NOL12 EXON Missense_R15W exm1606792 22 38084896 [T/C] NM_024313 NOL12 EXON Missense_T93M exm1606793 22 38084902 [T/C] NM_024313 NOL12 EXON Missense_S95L exm1606795 22 38084910 [T/C] NM_024313 NOL12 EXON Missense_Y98H exm1606799 22 38086725 [A/G] NM_024313 NOL12 EXON Missense_E135K exm1606809 22 38087290 [A/G] NM_024313 NOL12 EXON Missense_S197G exm1606810 22 38087303 [A/G] NM_024313 NOL12 EXON Missense_R201H exm1606812 22 38087309 [G/C] NM_024313 NOL12 EXON Missense_R203P exm1606823 22 38106521 [A/G] NM_001039141 TRIOBP EXON Missense_T68A exm1606829 22 38109227 [C/G] NM_001039141 TRIOBP EXON Missense_P89A exm2255161 22 38109325 [A/C] NM_001039141 TRIOBP EXON Synonymous_S121S exm1606834 22 38109327 [T/C] NM_001039141 TRIOBP EXON Missense_L122S exm1606838 22 38109346 [C/G] NM_001039141 TRIOBP EXON Missense_E128D exm1606839 22 38109353 [A/G] NM_001039141 TRIOBP EXON Missense_G131S exm1606842 22 38111817 [A/C] NM_001039141 TRIOBP EXON Missense_D168E exm1606846 22 38111885 [T/C] NM_001039141 TRIOBP EXON Missense_P191L exm1606847 22 38111897 [T/C] NM_001039141 TRIOBP EXON Missense_T195I exm1606848 22 38111900 [C/G] NM_001039141 TRIOBP EXON Missense_R196T exm1606855 22 38119213 [A/G] NM_001039141 TRIOBP EXON Missense_S217N exm1606858 22 38119272 [T/C] NM_001039141 TRIOBP EXON Missense_R237W exm1606862 22 38119378 [A/C] NM_001039141 TRIOBP EXON Missense_T272K exm1606863 22 38119380 [T/C] NM_001039141 TRIOBP EXON Missense_R273C exm2235664 22 38119459 [T/C] NM_001039141 TRIOBP EXON Missense_I299T exm2009612 22 38119527 [T/G] NM_001039141 TRIOBP EXON Missense_A322S exm1606870 22 38119528 [T/C] NM_001039141 TRIOBP EXON Missense_A322V exm1606873 22 38119551 [T/C] NM_001039141 TRIOBP EXON Missense_P330S exm1606880 22 38119777 [T/C] NM_001039141 TRIOBP EXON Missense_S405F exm1606882 22 38119788 [T/C] NM_001039141 TRIOBP EXON Missense_R409W exm1606883 22 38119789 [A/G] NM_001039141 TRIOBP EXON Missense_R409Q exm1606939 22 38120797 [A/G] NM_001039141 TRIOBP EXON Missense_R745K exm1606946 22 38120955 [T/C] NM_001039141 TRIOBP EXON Missense_R798W exm1606947 22 38121013 [G/C] NM_001039141 TRIOBP EXON Missense_T817S exm2235676 22 38121019 [T/C] NM_001039141 TRIOBP EXON Missense_I819T exm1606949 22 38121040 [T/C] NM_001039141 TRIOBP EXON Missense_S826L exm1606955 22 38121152 [A/C] NM_001039141 TRIOBP EXON Missense_N863K exm1606965 22 38121340 [A/G] NM_001039141 TRIOBP EXON Missense_R926H exm1606967 22 38121398 [C/G] NM_001039141 TRIOBP EXON Missense_D945E exm1606975 22 38121631 [T/C] NM_001039141 TRIOBP EXON Missense_A1023V exm1606977 22 38121652 [G/C] NM_001039141 TRIOBP EXON Missense_P1030R exm1606988 22 38121795 [T/C] NM_001039141 TRIOBP EXON Missense_R1078C exm1607009 22 38122198 [T/A] NM_001039141 TRIOBP EXON Missense_L1212Q exm1607011 22 38122225 [A/G] NM_001039141 TRIOBP EXON Missense_R1221Q exm1607019 22 38122462 [A/G] NM_001039141 TRIOBP EXON Missense_H1300R exm1607024 22 38129388 [A/G] NM_001039141 TRIOBP EXON Missense_R1344Q exm1607029 22 38130442 [T/C] NM_001039141 TRIOBP EXON Missense_R1367W exm1607030 22 38130446 [A/G] NM_001039141 TRIOBP EXON Missense_R1368Q exm1607031 22 38130459 [T/G] NM_001039141 TRIOBP EXON Missense_E1372D exm1607032 22 38130472 [T/C] NM_001039141 TRIOBP EXON Missense_W1377R exm1607035 22 38130508 [A/C] NM_001039141 TRIOBP EXON Missense_L1389I exm1607036 22 38130521 [T/C] NM_001039141 TRIOBP EXON Missense_P1393L exm1607043 22 38130676 [A/G] NM_001039141 TRIOBP EXON Missense_R1445G exm2009657 22 38130827 [T/A] NM_001039141 TRIOBP EXON Missense_E1495V exm2009660 22 38130910 [A/G] NM_001039141 TRIOBP EXON Missense_A1523T exm1607059 22 38131069 [T/C] NM_001039141 TRIOBP EXON Missense_R1576C exm1607061 22 38131126 [T/C] NM_001039141 TRIOBP EXON Missense_R1595C exm1607069 22 38131357 [T/G] NM_001039141 TRIOBP EXON Nonsense_G1672X exm1607074 22 38134708 [C/G] NM_001039141 TRIOBP EXON Missense_D1722E exm1607082 22 38136939 [T/C] NM_001039141 TRIOBP EXON Missense_P1741L exm1607083 22 38136941 [T/C] NM_001039141 TRIOBP EXON Missense_L1742F exm1607086 22 38136990 [A/C] NM_001039141 TRIOBP EXON Missense_T1758K exm1607100 22 38147834 [A/C] NM_001039141,NM_007032,NM_138632 TRIOBP,TRIOBP,TRIOBP EXON Missense_E1793A,Missense_E80A,Missense_E80A exm2009677 22 38150908 [T/A] NM_001039141,NM_007032,NM_138632 TRIOBP,TRIOBP,TRIOBP EXON Missense_T1802S,Missense_T89S,Missense_T89S exm1607119 22 38151587 [A/G] NM_001039141,NM_007032,NM_138632 TRIOBP,TRIOBP,TRIOBP EXON Missense_M1870V,Missense_M157V,Missense_M157V exm1607120 22 38151606 [A/G] NM_001039141,NM_007032,NM_138632 TRIOBP,TRIOBP,TRIOBP EXON Missense_R1876Q,Missense_R163Q,Missense_R163Q exm1607122 22 38151621 [T/C] NM_001039141,NM_007032,NM_138632 TRIOBP,TRIOBP,TRIOBP EXON Missense_A1881V,Missense_A168V,Missense_A168V exm1607124 22 38153637 [A/C] NM_001039141,NM_007032,NM_138632 TRIOBP,TRIOBP,TRIOBP EXON Missense_K1902T,Missense_K189T,Missense_K189T exm2009681 22 38153696 [T/C] NM_001039141,NM_007032,NM_138632 TRIOBP,TRIOBP,TRIOBP EXON Missense_R1922W,Missense_R209W,Missense_R209W exm1607125 22 38153699 [A/G] NM_001039141,NM_007032,NM_138632 TRIOBP,TRIOBP,TRIOBP EXON Missense_A1923T,Missense_A210T,Missense_A210T exm1607139 22 38153862 [A/G] NM_001039141,NM_007032,NM_138632 TRIOBP,TRIOBP,TRIOBP EXON Missense_R1977Q,Missense_R264Q,Missense_R264Q exm1607145 22 38154059 [C/G] NM_001039141,NM_007032,NM_138632 TRIOBP,TRIOBP,TRIOBP EXON Missense_R2043G,Missense_R330G,Missense_R330G exm1607150 22 38155189 [T/C] NM_001039141,NM_007032,NM_138632 TRIOBP,TRIOBP,TRIOBP EXON Missense_A2081V,Missense_A368V,Missense_A368V exm2235679 22 38155195 [A/G] NM_001039141,NM_007032,NM_138632 TRIOBP,TRIOBP,TRIOBP EXON Missense_R2083H,Missense_R370H,Missense_R370H exm1607151 22 38155219 [C/G] NM_001039141,NM_007032,NM_138632 TRIOBP,TRIOBP,TRIOBP EXON Missense_S2091T,Missense_S378T,Missense_S378T exm1607158 22 38155433 [A/G] NM_001039141,NM_007032,NM_138632 TRIOBP,TRIOBP,TRIOBP EXON Silent,Silent,Missense_V399M exm1607164 22 38155506 [T/C] NM_001039141,NM_007032,NM_138632 TRIOBP,TRIOBP,TRIOBP EXON Silent,Silent,Missense_P423L exm1607167 22 38161714 [T/C] NM_001039141,NM_007032 TRIOBP,TRIOBP EXON Missense_S2121L,Missense_S408L exm2009697 22 38164123 [A/G] NM_001039141,NM_007032 TRIOBP,TRIOBP EXON Missense_R2172Q,Missense_R459Q exm1607179 22 38164164 [A/G] NM_001039141,NM_007032 TRIOBP,TRIOBP EXON Missense_G2186S,Missense_G473S exm1607180 22 38164179 [T/C] NM_001039141,NM_007032 TRIOBP,TRIOBP EXON Missense_H2191Y,Missense_H478Y exm1607188 22 38165153 [T/C] NM_001039141,NM_007032 TRIOBP,TRIOBP EXON Missense_R2232C,Missense_R519C exm1607191 22 38165269 [A/G] NM_001039141,NM_007032 TRIOBP,TRIOBP EXON Missense_E2246K,Missense_E533K exm1607195 22 38165302 [G/C] NM_001039141,NM_007032 TRIOBP,TRIOBP EXON Missense_Q2257E,Missense_Q544E exm2009705 22 38165336 [A/G] NM_001039141,NM_007032 TRIOBP,TRIOBP EXON Missense_G2268D,Missense_G555D exm1607201 22 38165339 [A/G] NM_001039141,NM_007032 TRIOBP,TRIOBP EXON Missense_N2269S,Missense_N556S exm1607208 22 38167669 [A/G] NM_001039141,NM_007032 TRIOBP,TRIOBP EXON Missense_V2288I,Missense_V575I exm1607210 22 38167706 [T/C] NM_001039141,NM_007032 TRIOBP,TRIOBP EXON Missense_V2300A,Missense_V587A exm1607251 22 38205989 [T/C] NM_001171690,NM_014291 GCAT,GCAT EXON Missense_L77S,Silent exm1607255 22 38206037 [T/G] NM_001171690,NM_014291 GCAT,GCAT EXON Missense_I93S,Missense_I67S exm1607258 22 38206081 [T/C] NM_001171690,NM_014291 GCAT,GCAT EXON Missense_P108S,Missense_P82S exm2235683 22 38206124 [T/G] NM_001171690,NM_014291 GCAT,GCAT EXON Missense_G122V,Missense_G96V exm2009725 22 38206144 [C/G] NM_001171690,NM_014291 GCAT,GCAT EXON Missense_R129G,Missense_R103G exm1607284 22 38211173 [T/C] NM_001171690,NM_014291 GCAT,GCAT EXON Missense_S232F,Missense_S206F exm1607286 22 38211190 [A/G] NM_001171690,NM_014291 GCAT,GCAT EXON Missense_A238T,Missense_A212T exm2235685 22 38211232 [A/G] NM_001171690,NM_014291 GCAT,GCAT EXON Missense_A252T,Missense_A226T exm1607288 22 38211281 [G/C] NM_001171690,NM_014291 GCAT,GCAT EXON Missense_T268R,Missense_T242R exm1607297 22 38211711 [T/C] NM_001171690,NM_014291 GCAT,GCAT EXON Missense_R312W,Missense_R286W exm1607307 22 38212254 [A/G] NM_001171690,NM_014291 GCAT,GCAT EXON Missense_S371N,Missense_S345N exm1607310 22 38212289 [T/C] NM_001171690,NM_014291 GCAT,GCAT EXON Missense_R383W,Missense_R357W exm2276764 22 38212302 [A/G] NM_001171690,NM_014291 GCAT,GCAT EXON Missense_R387H,Missense_R361H exm1607317 22 38212624 [T/C] NM_001171690,NM_014291 GCAT,GCAT EXON Missense_R413W,Missense_R387W exm1607330 22 38219421 [A/C] NM_003614 GALR3 EXON Missense_D3A exm1607332 22 38219455 [A/T] NM_003614 GALR3 EXON Missense_S14R exm1607333 22 38219465 [A/G] NM_003614 GALR3 EXON Missense_V18M exm1607351 22 38220815 [G/C] NM_003614 GALR3 EXON Missense_L149V exm1607352 22 38220854 [C/G] NM_003614 GALR3 EXON Missense_G162R exm1607354 22 38220869 [A/G] NM_003614 GALR3 EXON Missense_G167S exm1607363 22 38221122 [A/C] NM_003614 GALR3 EXON Missense_H251P exm1607377 22 38221461 [T/C] NM_003614 GALR3 EXON Missense_A364V exm1607383 22 38228644 [T/C] NR_036556,NM_138797 ANKRD54,ANKRD54 EXON Silent,Synonymous_Q276Q exm1607384 22 38228693 [T/C] NR_036556,NM_138797 ANKRD54,ANKRD54 EXON Silent,Missense_R260H exm1607388 22 38228745 [A/G] NR_036556,NM_138797 ANKRD54,ANKRD54 EXON Silent,Missense_H243Y exm1607390 22 38228981 [T/C] NR_036556,NM_138797 ANKRD54,ANKRD54 EXON Silent,Missense_R235H exm1607396 22 38229057 [A/G] NR_036556,NM_138797 ANKRD54,ANKRD54 EXON Silent,Missense_R210C exm1607418 22 38240061 [T/C] NR_036556,NM_138797 ANKRD54,ANKRD54 EXON Silent,Missense_Q62R exm1607463 22 38259334 [T/C] NM_001242923,NM_016091 EIF3L,EIF3L EXON Silent,Synonymous_I187I exm1607482 22 38271999 [C/G] NM_001242923,NM_016091 EIF3L,EIF3L EXON Missense_T305S,Missense_T353S exm-rs9466 22 38273749 [T/C] NM_001242923,NM_016091 EIF3L,EIF3L EXON Synonymous_I334I,Synonymous_I382I exm1607520 22 38308394 [A/G] NM_033386 MICALL1 EXON Missense_A78T exm1607521 22 38308400 [T/C] NM_033386 MICALL1 EXON Synonymous_L80L exm1607522 22 38308428 [C/G] NM_033386 MICALL1 EXON Missense_S89T exm1607530 22 38313787 [T/A] NM_033386 MICALL1 EXON Synonymous_P137P exm1607544 22 38318029 [T/C] NM_033386 MICALL1 EXON Missense_P207L exm1607551 22 38318175 [A/G] NM_033386 MICALL1 EXON Missense_G256S exm1607552 22 38318176 [A/G] NM_033386 MICALL1 EXON Missense_G256D exm1607556 22 38318238 [T/C] NM_033386 MICALL1 EXON Missense_R277W exm1607574 22 38321806 [T/C] NM_033386 MICALL1 EXON Synonymous_T407T exm1607592 22 38322040 [A/G] NM_033386 MICALL1 EXON Synonymous_A485A exm1607595 22 38323451 [T/C] NM_033386 MICALL1 EXON Missense_P500L exm2010022 22 38323452 [A/G] NM_033386 MICALL1 EXON Synonymous_P500P exm1607600 22 38323483 [A/G] NM_033386 MICALL1 EXON Missense_V511M exm1607602 22 38323507 [T/G] NM_033386 MICALL1 EXON Missense_A519S exm2010024 22 38323554 [T/C] NM_033386 MICALL1 EXON Synonymous_P534P exm1607608 22 38323700 [T/C] NM_033386 MICALL1 EXON Missense_P583L exm1607609 22 38323718 [T/C] NM_033386 MICALL1 EXON Missense_S589L exm1607616 22 38323784 [A/G] NM_033386 MICALL1 EXON Missense_R611K exm1607619 22 38328597 [A/G] NM_033386 MICALL1 EXON Missense_H685R exm1607621 22 38328624 [T/G] NM_033386 MICALL1 EXON Missense_R694L exm1607630 22 38328881 [T/C] NM_033386 MICALL1 EXON Synonymous_S740S exm1607632 22 38328895 [T/C] NM_033386 MICALL1 EXON Missense_V745A exm1607639 22 38333148 [A/C] NM_033386 MICALL1 EXON Synonymous_T790T exm1607650 22 38336794 [A/G] NM_033386 MICALL1 EXON Missense_N850S exm1607651 22 38336799 [T/C] NM_033386 MICALL1 EXON Missense_R852C exm1607658 22 38340186 [A/G] NM_032561,NM_001207062 C22orf23,C22orf23 EXON Missense_T217I,Missense_T196I exm1607662 22 38340452 [T/C] NM_032561,NM_001207062 C22orf23,C22orf23 EXON Missense_R185Q,Missense_R164Q exm1607670 22 38341115 [A/G] NM_032561,NM_001207062 C22orf23,C22orf23 EXON Missense_R139W,Missense_R118W exm1607671 22 38341124 [T/G] NM_032561,NM_001207062 C22orf23,C22orf23 EXON Missense_M136L,Missense_M115L exm1607675 22 38343321 [A/T] NM_032561,NM_001207062 C22orf23,C22orf23 EXON Missense_Y106N,Missense_Y85N exm1607684 22 38347490 [A/C] NM_032561,NM_001207062 C22orf23,C22orf23 EXON Missense_R48L,Silent exm1607685 22 38347491 [A/G] NM_032561,NM_001207062 C22orf23,C22orf23 EXON Missense_R48C,Silent exm1607688 22 38349068 [G/C] NM_032561,NM_001207062 C22orf23,C22orf23 EXON Missense_C30S,Missense_C30S exm1607705 22 38363113 [T/G] NM_021974 POLR2F EXON Missense_A77S exm1607715 22 38369535 [G/C] NM_006941 SOX10 EXON Missense_E456D exm1607729 22 38369872 [A/G] NM_006941 SOX10 EXON Missense_T344M exm1607748 22 38373967 [T/C] NM_006941 SOX10 EXON Missense_A202T exm1607793 22 38453836 [A/G] NM_012407,NM_001039583,NM_001039584 PICK1,PICK1,PICK1 EXON Missense_Y7C,Missense_Y7C,Missense_Y7C exm1607795 22 38455241 [T/C] NM_012407,NM_001039583,NM_001039584 PICK1,PICK1,PICK1 EXON Synonymous_L14L,Synonymous_L14L,Synonymous_L14L exm1607812 22 38466878 [A/G] NM_012407,NM_001039583,NM_001039584 PICK1,PICK1,PICK1 EXON Missense_R158Q,Missense_R158Q,Missense_R158Q exm1607820 22 38467749 [A/G] NM_012407,NM_001039583,NM_001039584 PICK1,PICK1,PICK1 EXON Missense_R185Q,Missense_R185Q,Missense_R185Q exm1607827 22 38468517 [A/G] NM_012407,NM_001039583,NM_001039584 PICK1,PICK1,PICK1 EXON Missense_R197Q,Missense_R197Q,Missense_R197Q exm1607835 22 38468617 [A/G] NM_012407,NM_001039583,NM_001039584 PICK1,PICK1,PICK1 EXON Synonymous_P230P,Synonymous_P230P,Synonymous_P230P exm2010158 22 38471068 [A/G] NM_012407,NM_001039583,NM_001039584 PICK1,PICK1,PICK1 EXON Missense_G393R,Missense_G393R,Missense_G393R exm2010161 22 38474406 [T/C] NM_013356 SLC16A8 EXON Missense_E502K exm1607865 22 38474457 [A/G] NM_013356 SLC16A8 EXON Missense_R485W exm1607867 22 38474478 [T/C] NM_013356 SLC16A8 EXON Missense_A478T exm1607868 22 38474490 [T/C] NM_013356 SLC16A8 EXON Missense_G474S exm1607876 22 38474622 [T/C] NM_013356 SLC16A8 EXON Missense_A430T exm1607878 22 38474696 [A/G] NM_013356 SLC16A8 EXON Missense_V405A exm-rs8135665 22 38476276 [T/C] NM_013356 SLC16A8 Silent exm1607892 22 38477137 [A/C] NM_013356 SLC16A8 EXON Missense_R303L exm1607896 22 38477188 [G/C] NM_013356 SLC16A8 EXON Missense_T286S exm1607902 22 38477275 [A/G] NM_013356 SLC16A8 EXON Missense_A257V exm2010177 22 38478679 [A/G] NM_013356 SLC16A8 EXON Missense_L68F exm1607929 22 38478769 [T/C] NM_013356 SLC16A8 EXON Missense_A38T exm1607932 22 38478793 [T/C] NM_013356 SLC16A8 EXON Missense_G30S exm1607933 22 38478804 [A/G] NM_013356 SLC16A8 EXON Missense_F26S exm2275197 22 38481311 [A/C] NM_025045 BAIAP2L2 EXON Missense_R529L exm1607941 22 38481347 [C/G] NM_025045 BAIAP2L2 EXON Missense_P517R exm1607942 22 38481351 [A/G] NM_025045 BAIAP2L2 EXON Missense_R516C exm1607947 22 38481695 [T/C] NM_025045 BAIAP2L2 EXON Synonymous_P504P exm1607977 22 38483165 [T/A] NM_025045 BAIAP2L2 EXON Missense_T409S exm1607984 22 38483189 [A/G] NM_025045 BAIAP2L2 EXON Missense_S401P exm1607986 22 38483198 [A/G] NM_025045 BAIAP2L2 EXON Missense_P398S exm2010188 22 38483215 [T/G] NM_025045 BAIAP2L2 EXON Missense_P392H exm2010189 22 38483222 [T/C] NM_025045 BAIAP2L2 EXON Missense_V390M exm1608020 22 38503908 [A/G] NM_025045 BAIAP2L2 EXON Missense_V76A exm1608023 22 38504270 [T/C] NM_025045 BAIAP2L2 EXON Missense_Q69R exm2010232 22 38508172 [G/C] NM_001199562,NM_001004426,NM_003560 PLA2G6,PLA2G6,PLA2G6 EXON Missense_P752R,Missense_P752R,Missense_P806R exm1608062 22 38509628 [T/C] NM_001199562,NM_001004426,NM_003560 PLA2G6,PLA2G6,PLA2G6 EXON Missense_V636I,Missense_V636I,Missense_V690I exm1608075 22 38512126 [A/C] NM_001199562,NM_001004426,NM_003560 PLA2G6,PLA2G6,PLA2G6 EXON Missense_R558L,Missense_R558L,Missense_R612L exm1608077 22 38512162 [T/C] NM_001199562,NM_001004426,NM_003560 PLA2G6,PLA2G6,PLA2G6 EXON Missense_R546Q,Missense_R546Q,Missense_R600Q exm1608088 22 38516784 [A/G] NM_001199562,NM_001004426,NM_003560 PLA2G6,PLA2G6,PLA2G6 EXON Missense_T521M,Missense_T521M,Missense_T575M exm1608095 22 38516893 [T/C] NM_001199562,NM_001004426,NM_003560 PLA2G6,PLA2G6,PLA2G6 EXON Missense_G485S,Missense_G485S,Missense_G539S exm1608105 22 38522378 [A/G] NM_001199562,NM_001004426,NM_003560 PLA2G6,PLA2G6,PLA2G6 EXON Missense_T422I,Missense_T422I,Missense_T476I exm1608106 22 38522381 [T/C] NM_001199562,NM_001004426,NM_003560 PLA2G6,PLA2G6,PLA2G6 EXON Missense_R421Q,Missense_R421Q,Missense_R475Q exm1608110 22 38522397 [T/C] NM_001199562,NM_001004426,NM_003560 PLA2G6,PLA2G6,PLA2G6 EXON Missense_M416V,Missense_M416V,Missense_M470V exm2010252 22 38522424 [A/G] NM_001199562,NM_001004426,NM_003560 PLA2G6,PLA2G6,PLA2G6 EXON Missense_R407W,Missense_R407W,Missense_R461W exm1608122 22 38524356 [A/G] NM_001199562,NM_001004426,NM_003560 PLA2G6,PLA2G6,PLA2G6 EXON Silent,Silent,Missense_A423V exm1608133 22 38528888 [T/C] NM_001199562,NM_001004426,NM_003560 PLA2G6,PLA2G6,PLA2G6 EXON Missense_A343T,Missense_A343T,Missense_A343T exm1608140 22 38528959 [A/G] NM_001199562,NM_001004426,NM_003560 PLA2G6,PLA2G6,PLA2G6 EXON Missense_T319M,Missense_T319M,Missense_T319M exm1608153 22 38536013 [A/G] NM_001199562,NM_001004426,NM_003560 PLA2G6,PLA2G6,PLA2G6 EXON Missense_S258L,Missense_S258L,Missense_S258L exm1608159 22 38536076 [T/C] NM_001199562,NM_001004426,NM_003560 PLA2G6,PLA2G6,PLA2G6 EXON Missense_R237H,Missense_R237H,Missense_R237H exm1608173 22 38539282 [T/C] NM_001199562,NM_001004426,NM_003560 PLA2G6,PLA2G6,PLA2G6 EXON Missense_A147T,Missense_A147T,Missense_A147T exm1608187 22 38541545 [C/G] NM_001199562,NM_001004426,NM_003560 PLA2G6,PLA2G6,PLA2G6 EXON Missense_H109D,Missense_H109D,Missense_H109D exm2010280 22 38541604 [T/G] NM_001199562,NM_001004426,NM_003560 PLA2G6,PLA2G6,PLA2G6 EXON Missense_S89Y,Missense_S89Y,Missense_S89Y exm-rs2284063 22 38544298 [A/G] NM_001199562,NM_001004426,NM_003560 PLA2G6,PLA2G6,PLA2G6 Silent,Silent,Silent exm-rs5756931 22 38546033 [T/C] NM_001199562,NM_001004426,NM_003560 PLA2G6,PLA2G6,PLA2G6 Silent,Silent,Silent exm1608203 22 38565262 [T/C] NM_001199562,NM_001004426,NM_003560 PLA2G6,PLA2G6,PLA2G6 EXON Missense_V58I,Missense_V58I,Missense_V58I exm1608208 22 38565318 [T/C] NM_001199562,NM_001004426,NM_003560 PLA2G6,PLA2G6,PLA2G6 EXON Missense_R39Q,Missense_R39Q,Missense_R39Q exm1608210 22 38565325 [A/G] NM_001199562,NM_001004426,NM_003560 PLA2G6,PLA2G6,PLA2G6 EXON Nonsense_R37X,Nonsense_R37X,Nonsense_R37X exm1608211 22 38565333 [A/G] NM_001199562,NM_001004426,NM_003560 PLA2G6,PLA2G6,PLA2G6 EXON Missense_S34L,Missense_S34L,Missense_S34L exm1608213 22 38565343 [T/C] NM_001199562,NM_001004426,NM_003560 PLA2G6,PLA2G6,PLA2G6 EXON Missense_D31N,Missense_D31N,Missense_D31N exm-rs738322 22 38569006 [A/G] NM_001199562,NM_001004426,NM_003560 PLA2G6,PLA2G6,PLA2G6 Silent,Silent,Silent exm2010290 22 38609876 [G/C] NM_001161574,NM_012323,NM_001161572,NM_001161573 MAFF,MAFF,MAFF,MAFF EXON Silent,Missense_L6V,Missense_L6V,Missense_L6V exm1608223 22 38609892 [T/C] NM_001161574,NM_012323,NM_001161572,NM_001161573 MAFF,MAFF,MAFF,MAFF EXON Silent,Missense_L11P,Missense_L11P,Missense_L11P exm1608245 22 38617570 [T/C] NM_012264,NM_001195071,NM_001195072 TMEM184B,TMEM184B,TMEM184B EXON Missense_R377H,Missense_R377H,Missense_R311H exm2255173 22 38620928 [A/G] NM_012264,NM_001195071,NM_001195072 TMEM184B,TMEM184B,TMEM184B EXON Synonymous_R282R,Synonymous_R282R,Synonymous_R216R exm1608274 22 38627339 [A/G] NM_012264,NM_001195071,NM_001195072 TMEM184B,TMEM184B,TMEM184B EXON Synonymous_A120A,Synonymous_A120A,Synonymous_A54A exm2255174 22 38641960 [A/G] NM_012264,NM_001195071,NM_001195072 TMEM184B,TMEM184B,TMEM184B EXON Synonymous_T113T,Synonymous_T113T,Synonymous_T47T exm1608292 22 38643885 [A/G] NM_012264,NM_001195071,NM_001195072 TMEM184B,TMEM184B,TMEM184B EXON Missense_P28L,Missense_P28L,Silent exm1608293 22 38643898 [T/C] NM_012264,NM_001195071,NM_001195072 TMEM184B,TMEM184B,TMEM184B EXON Missense_V24I,Missense_V24I,Silent exm1608314 22 38690126 [A/G] NM_001894,NM_152221 CSNK1E,CSNK1E EXON Missense_P403S,Missense_P403S exm1608318 22 38690182 [A/G] NM_001894,NM_152221 CSNK1E,CSNK1E EXON Missense_A384V,Missense_A384V exm1608320 22 38690353 [A/G] NM_001894,NM_152221 CSNK1E,CSNK1E EXON Missense_P358L,Missense_P358L exm1608440 22 38864287 [A/G] NM_016657,NM_006855 KDELR3,KDELR3 EXON Missense_I17V,Missense_I17V exm1608456 22 38875632 [A/G] NM_016657,NM_006855 KDELR3,KDELR3 EXON Missense_Y76C,Missense_Y76C exm1608459 22 38875653 [A/G] NM_016657,NM_006855 KDELR3,KDELR3 EXON Missense_R83H,Missense_R83H exm1608463 22 38877231 [A/C] NM_016657,NM_006855 KDELR3,KDELR3 EXON Missense_F122L,Missense_F122L exm1608481 22 38877461 [T/G] NM_016657,NM_006855 KDELR3,KDELR3 EXON Missense_V199G,Missense_V199G exm1608485 22 38877527 [A/C] NM_016657,NM_006855 KDELR3,KDELR3 EXON Missense_X221S,Silent exm1608494 22 38881951 [A/G] NM_006386,NM_001098504 DDX17,DDX17 EXON Missense_S727P,Missense_S729P exm1608501 22 38882187 [C/G] NM_006386,NM_001098504 DDX17,DDX17 EXON Missense_S648T,Missense_S650T exm1608522 22 38894090 [A/G] NM_006386,NM_001098504 DDX17,DDX17 EXON Synonymous_I246I,Synonymous_I246I exm1608531 22 38895423 [A/G] NM_006386,NM_001098504 DDX17,DDX17 EXON Missense_H174Y,Missense_H174Y exm1608534 22 38897266 [T/C] NM_006386,NM_001098504 DDX17,DDX17 EXON Missense_G103S,Missense_G103S exm2273035 22 38898051 [T/C] NM_006386,NM_001098504 DDX17,DDX17 Silent,Silent exm1608547 22 38917703 [A/G] NM_007068 DMC1 EXON Missense_I288T exm1608551 22 38934396 [T/C] NM_007068 DMC1 EXON Missense_A227T exm1608564 22 38945975 [T/C] NM_007068 DMC1 EXON Missense_G150D exm1608591 22 38993302 [T/C] NM_001013647 FAM227A EXON Missense_R480Q exm1608597 22 39003414 [T/C] NM_001013647 FAM227A EXON Missense_R369Q exm1608605 22 39022281 [T/C] NM_001013647 FAM227A EXON Missense_V252M exm1608615 22 39034786 [T/C] NM_001013647 FAM227A EXON Missense_E113K exm1608619 22 39035680 [T/C] NM_001013647 FAM227A EXON Missense_R92H exm2235714 22 39066932 [T/G] NM_001002880,NM_015373 CBY1,CBY1 EXON Missense_G84V,Missense_G41V exm1608645 22 39067128 [T/C] NM_001002880,NM_015373 CBY1,CBY1 EXON Missense_R123W,Missense_R80W exm1608651 22 39069189 [A/C] NM_001002880,NM_015373 CBY1,CBY1 EXON Missense_H153P,Missense_H110P exm1608658 22 39077991 [C/G] NM_020243 TOMM22 EXON Missense_A3G exm1608662 22 39078021 [T/C] NM_020243 TOMM22 EXON Missense_P13L exm1608675 22 39078437 [A/G] NM_020243 TOMM22 EXON Missense_K76R exm2255178 22 39079820 [T/C] NM_020243 TOMM22 EXON Synonymous_L135L exm1608694 22 39085085 [G/C] NM_014876 JOSD1 EXON Missense_L122V exm1608709 22 39095849 [C/G] NM_014876 JOSD1 EXON Missense_S48R exm2268440 22 39100128 [A/G] exm1608732 22 39112062 [A/G] NM_004286 GTPBP1 EXON Missense_R152Q exm1608770 22 39125549 [T/C] NM_004286 GTPBP1 EXON Missense_T600M exm1608790 22 39132369 [A/G] NM_001199580,NM_015374,NM_001199579 SUN2,SUN2,SUN2 EXON Missense_T686M,Missense_T686M,Missense_T707M exm1608792 22 39134207 [T/C] NM_001199580,NM_015374,NM_001199579 SUN2,SUN2,SUN2 EXON Missense_G671S,Missense_G671S,Missense_G692S exm1608799 22 39134681 [A/G] NM_001199580,NM_015374,NM_001199579 SUN2,SUN2,SUN2 EXON Missense_R620C,Missense_R620C,Missense_R641C exm1608813 22 39135419 [T/C] NM_001199580,NM_015374,NM_001199579 SUN2,SUN2,SUN2 EXON Missense_I531V,Missense_I531V,Missense_I552V exm1608817 22 39135783 [T/C] NM_001199580,NM_015374,NM_001199579 SUN2,SUN2,SUN2 EXON Missense_A508T,Missense_A508T,Missense_A529T exm1608824 22 39135933 [A/G] NM_001199580,NM_015374,NM_001199579 SUN2,SUN2,SUN2 EXON Missense_P458S,Missense_P458S,Missense_P479S exm1608826 22 39136272 [A/G] NM_001199580,NM_015374,NM_001199579 SUN2,SUN2,SUN2 EXON Synonymous_D452D,Synonymous_D452D,Synonymous_D473D exm1608827 22 39136274 [T/C] NM_001199580,NM_015374,NM_001199579 SUN2,SUN2,SUN2 EXON Missense_D452N,Missense_D452N,Missense_D473N exm2275198 22 39136283 [T/C] NM_001199580,NM_015374,NM_001199579 SUN2,SUN2,SUN2 EXON Missense_V449M,Missense_V449M,Missense_V470M exm1608830 22 39136314 [T/A] NM_001199580,NM_015374,NM_001199579 SUN2,SUN2,SUN2 EXON Missense_E438D,Missense_E438D,Missense_E459D exm2010790 22 39136423 [A/G] NM_001199580,NM_015374,NM_001199579 SUN2,SUN2,SUN2 EXON Missense_S402F,Missense_S402F,Missense_S423F exm1608850 22 39137513 [T/C] NM_001199580,NM_015374,NM_001199579 SUN2,SUN2,SUN2 EXON Missense_V378I,Missense_V378I,Missense_V399I exm1608853 22 39138331 [T/C] NM_001199580,NM_015374,NM_001199579 SUN2,SUN2,SUN2 EXON Missense_R348H,Missense_R348H,Missense_R369H exm1608854 22 39138332 [A/G] NM_001199580,NM_015374,NM_001199579 SUN2,SUN2,SUN2 EXON Missense_R348C,Missense_R348C,Missense_R369C exm1608857 22 39138464 [A/G] NM_001199580,NM_015374,NM_001199579 SUN2,SUN2,SUN2 EXON Missense_R304W,Missense_R304W,Missense_R325W exm2235717 22 39138538 [T/C] NM_001199580,NM_015374,NM_001199579 SUN2,SUN2,SUN2 EXON Missense_R279Q,Missense_R279Q,Missense_R300Q exm2010803 22 39141729 [T/C] NM_001199580,NM_015374,NM_001199579 SUN2,SUN2,SUN2 EXON Missense_D258G,Missense_D258G,Missense_D279G exm1608864 22 39144747 [A/G] NM_001199580,NM_015374,NM_001199579 SUN2,SUN2,SUN2 EXON Missense_P219L,Missense_P219L,Missense_P240L exm1608866 22 39144787 [T/G] NM_001199580,NM_015374,NM_001199579 SUN2,SUN2,SUN2 EXON Missense_R206S,Missense_R206S,Missense_R227S exm1608874 22 39145816 [T/C] NM_001199580,NM_015374,NM_001199579 SUN2,SUN2,SUN2 EXON Missense_R190H,Missense_R190H,Missense_R211H exm1608880 22 39145864 [A/C] NM_001199580,NM_015374,NM_001199579 SUN2,SUN2,SUN2 EXON Missense_G174V,Missense_G174V,Missense_G195V exm1608882 22 39146265 [A/G] NM_001199580,NM_015374,NM_001199579 SUN2,SUN2,SUN2 EXON Missense_A162V,Missense_A162V,Missense_A183V exm1608883 22 39146269 [A/G] NM_001199580,NM_015374,NM_001199579 SUN2,SUN2,SUN2 EXON Missense_R161W,Missense_R161W,Missense_R182W exm2275199 22 39146275 [T/C] NM_001199580,NM_015374,NM_001199579 SUN2,SUN2,SUN2 EXON Missense_V159I,Missense_V159I,Missense_V180I exm1608885 22 39146283 [T/C] NM_001199580,NM_015374,NM_001199579 SUN2,SUN2,SUN2 EXON Missense_R156Q,Missense_R156Q,Missense_R177Q exm1608886 22 39146289 [T/C] NM_001199580,NM_015374,NM_001199579 SUN2,SUN2,SUN2 EXON Missense_R154Q,Missense_R154Q,Missense_R175Q exm1608893 22 39146319 [A/G] NM_001199580,NM_015374,NM_001199579 SUN2,SUN2,SUN2 EXON Missense_S144L,Missense_S144L,Missense_S165L exm2235718 22 39146966 [A/G] NM_001199580,NM_015374,NM_001199579 SUN2,SUN2,SUN2 EXON Missense_R121C,Missense_R121C,Missense_R121C exm1608908 22 39147235 [A/C] NM_001199580,NM_015374,NM_001199579 SUN2,SUN2,SUN2 EXON Missense_L89R,Missense_L89R,Missense_L89R exm1608916 22 39147335 [G/C] NM_001199580,NM_015374,NM_001199579 SUN2,SUN2,SUN2 EXON Missense_A56P,Missense_A56P,Missense_A56P exm1608918 22 39147346 [T/C] NM_001199580,NM_015374,NM_001199579 SUN2,SUN2,SUN2 EXON Missense_R52H,Missense_R52H,Missense_R52H exm1608923 22 39148537 [T/C] NM_001199580,NM_015374,NM_001199579 SUN2,SUN2,SUN2 EXON Missense_T33A,Missense_T33A,Missense_T33A exm1608930 22 39148588 [T/C] NM_001199580,NM_015374,NM_001199579 SUN2,SUN2,SUN2 EXON Missense_D16N,Missense_D16N,Missense_D16N exm1608933 22 39148606 [A/G] NM_001199580,NM_015374,NM_001199579 SUN2,SUN2,SUN2 EXON Missense_R10C,Missense_R10C,Missense_R10C exm1608935 22 39148608 [A/G] NM_001199580,NM_015374,NM_001199579 SUN2,SUN2,SUN2 EXON Missense_T9M,Missense_T9M,Missense_T9M exm2010902 22 39176976 [A/C] NM_005740 DNAL4 EXON Missense_M36I exm2010903 22 39176987 [T/C] NM_005740 DNAL4 EXON Missense_V33M exm1608947 22 39178693 [T/C] NM_005740 DNAL4 EXON Missense_R15Q exm-rs760482 22 39178701 [A/G] NM_005740 DNAL4 EXON Synonymous_D12D exm1608962 22 39218763 [T/C] NM_014293 NPTXR EXON Missense_A452T exm1608966 22 39218819 [A/G] NM_014293 NPTXR EXON Missense_F433S exm1608973 22 39222512 [T/C] NM_014293 NPTXR EXON Missense_N364S exm1608976 22 39222573 [T/C] NM_014293 NPTXR EXON Missense_G344R exm1608981 22 39222627 [A/G] NM_014293 NPTXR EXON Missense_R326W exm1608999 22 39224357 [T/C] NM_014293 NPTXR EXON Missense_R262Q exm1609021 22 39262240 [T/C] NM_014292 CBX6 EXON Missense_G405S exm1609046 22 39262740 [G/C] NM_014292 CBX6 EXON Missense_P238R exm1609063 22 39263050 [G/C] NM_014292 CBX6 EXON Missense_P135A exm1609072 22 39267761 [A/C] NM_014292 CBX6 EXON Missense_Y39D exm-rs5757362 22 39306080 [T/C] exm1609089 22 39355572 [A/G] NM_001193289,NM_145699,NM_001270406 APOBEC3A_B,APOBEC3A,APOBEC3A EXON Missense_T19A,Missense_T19A,Silent exm1609138 22 39380151 [A/G] NM_001193289,NM_001270411,NM_004900 APOBEC3A_B,APOBEC3B,APOBEC3B EXON Silent,Missense_R30Q,Missense_R30Q exm1609175 22 39382079 [A/C] NM_001193289,NM_001270411,NM_004900 APOBEC3A_B,APOBEC3B,APOBEC3B EXON Silent,Missense_T146K,Missense_T146K exm1609196 22 39385595 [A/G] NM_001193289,NM_001270411,NM_004900 APOBEC3A_B,APOBEC3B,APOBEC3B EXON Silent,Missense_M235V,Missense_M235V exm1609227 22 39388092 [A/C] NM_001193289,NM_001270411,NM_004900 APOBEC3A_B,APOBEC3B,APOBEC3B EXON Silent,Missense_P333T,Missense_P358T exm1609252 22 39411737 [T/C] NM_014508 APOBEC3C EXON Missense_T52M exm1609254 22 39413782 [C/G] NM_014508 APOBEC3C EXON Missense_E62D exm1609271 22 39414341 [T/A] NM_014508 APOBEC3C EXON Missense_L174F exm1609288 22 39421122 [G/C] NM_152426 APOBEC3D EXON Missense_W86C exm1609289 22 39421153 [T/C] NM_152426 APOBEC3D EXON Missense_R97C exm1609294 22 39421240 [A/G] NM_152426 APOBEC3D EXON Missense_V126I exm1609339 22 39428305 [A/G] NM_152426 APOBEC3D EXON Missense_R382Q exm1609353 22 39440176 [T/A] NM_001006666,NM_145298 APOBEC3F,APOBEC3F EXON Missense_Q87L,Silent exm2011146 22 39441221 [T/C] NM_145298 APOBEC3F EXON Synonymous_D149D exm1609384 22 39441434 [A/C] NM_145298 APOBEC3F EXON Missense_E151D exm1609400 22 39445554 [A/G] NM_145298 APOBEC3F EXON Missense_V231I exm1609416 22 39448615 [A/G] NM_145298 APOBEC3F EXON Missense_N346S exm2011169 22 39448661 [A/T] NM_145298 APOBEC3F EXON Missense_F361L exm1609420 22 39448695 [A/G] NM_145298 APOBEC3F EXON Missense_E373K exm1609447 22 39477101 [A/C] NM_021822 APOBEC3G EXON Missense_P112Q exm2011175 22 39477173 [A/G] NM_021822 APOBEC3G EXON Missense_R136H exm1609461 22 39477566 [A/G] NM_021822 APOBEC3G EXON Missense_H186R exm1609468 22 39479866 [T/C] NM_021822 APOBEC3G EXON Missense_R238C exm1609474 22 39482315 [A/G] NM_021822 APOBEC3G EXON Missense_R256H exm1609477 22 39482371 [G/C] NM_021822 APOBEC3G EXON Missense_Q275E exm1609478 22 39482378 [A/G] NM_021822 APOBEC3G EXON Missense_Y277C exm2273063 22 39493294 [T/C] NM_181773,NM_001166004,NM_001166003,NM_001166002 APOBEC3H,APOBEC3H,APOBEC3H,APOBEC3H EXON Silent,Silent,Silent,Silent exm1609516 22 39496336 [T/G] NM_181773,NM_001166004,NM_001166003,NM_001166002 APOBEC3H,APOBEC3H,APOBEC3H,APOBEC3H EXON Missense_R18L,Missense_R18L,Missense_R18L,Missense_R18L exm1609520 22 39496402 [T/C] NM_181773,NM_001166004,NM_001166003,NM_001166002 APOBEC3H,APOBEC3H,APOBEC3H,APOBEC3H EXON Missense_S40F,Missense_S40F,Missense_S40F,Missense_S40F exm1609525 22 39496417 [T/G] NM_181773,NM_001166004,NM_001166003,NM_001166002 APOBEC3H,APOBEC3H,APOBEC3H,APOBEC3H EXON Missense_G45V,Missense_G45V,Missense_G45V,Missense_G45V exm1609530 22 39497287 [A/G] NM_181773,NM_001166004,NM_001166003,NM_001166002 APOBEC3H,APOBEC3H,APOBEC3H,APOBEC3H EXON Missense_M66V,Missense_M66V,Missense_M66V,Missense_M66V exm2011198 22 39497300 [A/G] NM_181773,NM_001166004,NM_001166003,NM_001166002 APOBEC3H,APOBEC3H,APOBEC3H,APOBEC3H EXON Missense_E70G,Missense_E70G,Missense_E70G,Missense_E70G exm2011199 22 39497389 [G/C] NM_181773,NM_001166004,NM_001166003,NM_001166002 APOBEC3H,APOBEC3H,APOBEC3H,APOBEC3H EXON Missense_D100H,Missense_D100H,Missense_D100H,Missense_D100H exm1609541 22 39497452 [A/G] NM_181773,NM_001166004,NM_001166003,NM_001166002 APOBEC3H,APOBEC3H,APOBEC3H,APOBEC3H EXON Missense_K121E,Missense_K121E,Missense_K121E,Missense_K121E exm1609542 22 39497454 [C/G] NM_181773,NM_001166004,NM_001166003,NM_001166002 APOBEC3H,APOBEC3H,APOBEC3H,APOBEC3H EXON Missense_K121N,Missense_K121N,Missense_K121N,Missense_K121N exm1609546 22 39497509 [A/G] NM_181773,NM_001166004,NM_001166003,NM_001166002 APOBEC3H,APOBEC3H,APOBEC3H,APOBEC3H EXON Missense_K140E,Missense_N140D,Missense_K140E,Missense_K140E exm1609549 22 39497952 [A/G] NM_181773,NM_001166004,NM_001166003,NM_001166002 APOBEC3H,APOBEC3H,APOBEC3H,APOBEC3H EXON Missense_D150N,Silent,Missense_D150N,Missense_D150N exm1609554 22 39498015 [C/G] NM_181773,NM_001166004,NM_001166003,NM_001166002 APOBEC3H,APOBEC3H,APOBEC3H,APOBEC3H EXON Missense_R171G,Silent,Missense_R171G,Missense_R171G exm1609555 22 39498031 [A/G] NM_181773,NM_001166004,NM_001166003,NM_001166002 APOBEC3H,APOBEC3H,APOBEC3H,APOBEC3H EXON Missense_R176Q,Silent,Missense_R176Q,Missense_R176Q exm1609556 22 39498038 [C/G] NM_181773,NM_001166004,NM_001166003,NM_001166002 APOBEC3H,APOBEC3H,APOBEC3H,APOBEC3H EXON Missense_E178D,Silent,Missense_E178D,Missense_E178D exm2011209 22 39530471 [A/G] NM_175709 CBX7 EXON Missense_P178L exm2264736 22 39573724 [A/C] exm1609613 22 39621784 [A/G] NM_033016,NM_002608 PDGFB,PDGFB EXON Missense_R209W,Missense_R224W exm1609618 22 39621819 [A/G] NM_033016,NM_002608 PDGFB,PDGFB EXON Missense_T197M,Missense_T212M exm1609624 22 39621846 [A/G] NM_033016,NM_002608 PDGFB,PDGFB EXON Missense_T188M,Missense_T203M exm1609645 22 39627787 [A/G] NM_033016,NM_002608 PDGFB,PDGFB EXON Missense_T84M,Missense_T99M exm1609650 22 39627821 [T/C] NM_033016,NM_002608 PDGFB,PDGFB EXON Missense_I73V,Missense_I88V exm1609658 22 39631786 [T/C] NM_033016,NM_002608 PDGFB,PDGFB EXON Missense_G38R,Missense_G53R exm1609659 22 39631788 [A/G] NM_033016,NM_002608 PDGFB,PDGFB EXON Missense_P37L,Missense_P52L exm1609661 22 39631806 [T/C] NM_033016,NM_002608 PDGFB,PDGFB EXON Missense_R31H,Missense_R46H exm1609671 22 39639934 [A/C] NM_002608 PDGFB EXON Missense_C12F exm-rs2413583 22 39659773 [T/C] exm-rs968451 22 39670851 [T/G] exm-rs54211 22 39687484 [A/G] exm1609673 22 39708965 [T/C] NM_000967,NM_001033853 RPL3,RPL3 EXON Missense_A398T,Missense_A349T exm1609681 22 39709231 [A/G] NM_000967,NM_001033853 RPL3,RPL3 EXON Missense_R378C,Missense_R329C exm1609758 22 39714440 [G/C] NM_000967,NM_001033853 RPL3,RPL3 EXON Missense_T54S,Missense_T54S exm2264737 22 39737669 [A/C] exm1609792 22 39760219 [A/G] NM_004711,NM_145731,NM_145738 SYNGR1,SYNGR1,SYNGR1 EXON Silent,Silent,Missense_G7E exm1609795 22 39760275 [A/G] NM_004711,NM_145731,NM_145738 SYNGR1,SYNGR1,SYNGR1 EXON Silent,Silent,Missense_S26G exm1609801 22 39770384 [C/G] NM_004711,NM_145731,NM_145738 SYNGR1,SYNGR1,SYNGR1 EXON Missense_G55R,Missense_G55R,Missense_G56R exm1609807 22 39770441 [A/G] NM_004711,NM_145731,NM_145738 SYNGR1,SYNGR1,SYNGR1 EXON Missense_V74M,Missense_V74M,Missense_V75M exm1609823 22 39772080 [G/C] NM_004711,NM_145731,NM_145738 SYNGR1,SYNGR1,SYNGR1 EXON Missense_V121L,Missense_V121L,Missense_V122L exm1609825 22 39772114 [T/G] NM_004711,NM_145731,NM_145738 SYNGR1,SYNGR1,SYNGR1 EXON Missense_V132G,Missense_V132G,Missense_V133G exm1609833 22 39773612 [A/G] NM_004711,NM_145731,NM_145738 SYNGR1,SYNGR1,SYNGR1 EXON Silent,Missense_A165T,Missense_A166T exm1609835 22 39773624 [A/G] NM_004711,NM_145731,NM_145738 SYNGR1,SYNGR1,SYNGR1 EXON Silent,Missense_V169M,Missense_V170M exm1609836 22 39773627 [T/C] NM_004711,NM_145731,NM_145738 SYNGR1,SYNGR1,SYNGR1 EXON Silent,Missense_R170W,Missense_R171W exm1609840 22 39773691 [T/C] NM_004711,NM_145731,NM_145738 SYNGR1,SYNGR1,SYNGR1 EXON Silent,Missense_P191L,Missense_P192L exm1609848 22 39777825 [A/C] NM_004711 SYNGR1 EXON Missense_T203N exm1609857 22 39777887 [A/G] NM_004711 SYNGR1 EXON Missense_E224K exm2011320 22 39813759 [T/C] NM_006116,NM_153497 TAB1,TAB1 EXON Missense_L152P,Missense_L152P exm1609901 22 39813853 [T/C] NM_006116,NM_153497 TAB1,TAB1 EXON Synonymous_V183V,Synonymous_V183V exm1609905 22 39814746 [A/G] NM_006116,NM_153497 TAB1,TAB1 EXON Missense_R187H,Missense_R187H exm1609908 22 39814802 [A/G] NM_006116,NM_153497 TAB1,TAB1 EXON Missense_D206N,Missense_D206N exm1609914 22 39815564 [T/G] NM_006116,NM_153497 TAB1,TAB1 EXON Missense_C235W,Missense_C235W exm1609916 22 39815617 [C/G] NM_006116,NM_153497 TAB1,TAB1 EXON Missense_T253R,Missense_T253R exm1609927 22 39822759 [A/G] NM_006116,NM_153497 TAB1,TAB1 EXON Missense_A325T,Missense_A325T exm1609933 22 39822847 [A/G] NM_006116,NM_153497 TAB1,TAB1 EXON Missense_R354Q,Missense_R354Q exm1609936 22 39822889 [T/C] NM_006116,NM_153497 TAB1,TAB1 EXON Missense_P368L,Missense_P368L exm1609947 22 39826049 [T/C] NM_006116,NM_153497 TAB1,TAB1 EXON Missense_T446I,Silent exm1609949 22 39826100 [A/G] NM_006116,NM_153497 TAB1,TAB1 EXON Missense_R463H,Silent exm1609961 22 39826210 [A/G] NM_006116,NM_153497 TAB1,TAB1 EXON Missense_V500M,Silent exm2255185 22 39883517 [T/G] NM_002409,NM_001098270 MGAT3,MGAT3 EXON Synonymous_P55P,Synonymous_P55P exm1609988 22 39883951 [T/G] NM_002409,NM_001098270 MGAT3,MGAT3 EXON Missense_V200G,Missense_V200G exm1610013 22 39884436 [A/G] NM_002409,NM_001098270 MGAT3,MGAT3 EXON Missense_V362M,Missense_V362M exm2011367 22 39884623 [A/C] NM_002409,NM_001098270 MGAT3,MGAT3 EXON Missense_T424K,Missense_T424K exm1610030 22 39884826 [G/C] NM_002409,NM_001098270 MGAT3,MGAT3 EXON Missense_D492H,Missense_D492H exm1610031 22 39884847 [G/C] NM_002409,NM_001098270 MGAT3,MGAT3 EXON Missense_D499H,Missense_D499H exm1610033 22 39884910 [A/G] NM_002409,NM_001098270 MGAT3,MGAT3 EXON Missense_G520R,Missense_G520R exm1610035 22 39884922 [A/G] NM_002409,NM_001098270 MGAT3,MGAT3 EXON Missense_A524T,Missense_A524T exm1610036 22 39884925 [T/C] NM_002409,NM_001098270 MGAT3,MGAT3 EXON Missense_R525W,Missense_R525W exm1610040 22 39907318 [T/C] NM_019008 SMCR7L EXON Missense_R7C exm2011372 22 39907906 [T/C] NM_019008 SMCR7L EXON Missense_S66L exm1610053 22 39907941 [C/G] NM_019008 SMCR7L EXON Missense_G78R exm1610055 22 39907975 [T/C] NM_019008 SMCR7L EXON Missense_T89M exm1610056 22 39907978 [A/G] NM_019008 SMCR7L EXON Missense_G90D exm1610060 22 39908255 [A/G] NM_019008 SMCR7L EXON Missense_R114Q exm1610066 22 39908419 [T/C] NM_019008 SMCR7L EXON Missense_R169W exm1610072 22 39909600 [A/G] NM_019008 SMCR7L EXON Missense_D222N exm1610076 22 39909726 [A/G] NM_019008 SMCR7L EXON Missense_D264N exm1610131 22 39917787 [T/G] NM_182810,NM_001675 ATF4,ATF4 EXON Missense_F79C,Missense_F79C exm1610191 22 39925564 [T/G] NM_194326 RPS19BP1 EXON Missense_K115T exm1610192 22 39925565 [T/C] NM_194326 RPS19BP1 EXON Missense_K115E exm1610200 22 39925859 [T/G] NM_194326 RPS19BP1 EXON Missense_T82K exm1610206 22 39928517 [A/G] NM_194326 RPS19BP1 EXON Missense_P22S exm1610217 22 39966777 [T/C] NM_001003406,NM_021096 CACNA1I,CACNA1I EXON Missense_P7L,Missense_P7L exm1610230 22 39996558 [A/C] NM_001003406,NM_021096 CACNA1I,CACNA1I EXON Missense_M128L,Missense_M128L exm1610249 22 40037036 [A/G] NM_001003406,NM_021096 CACNA1I,CACNA1I EXON Missense_D302G,Missense_D302G exm1610252 22 40037051 [A/G] NM_001003406,NM_021096 CACNA1I,CACNA1I EXON Missense_R307H,Missense_R307H exm1610263 22 40042737 [T/C] NM_001003406,NM_021096 CACNA1I,CACNA1I EXON Missense_I438T,Missense_I438T exm1610272 22 40043874 [T/C] NM_001003406,NM_021096 CACNA1I,CACNA1I EXON Silent,Missense_R504W exm1610273 22 40043877 [A/C] NM_001003406,NM_021096 CACNA1I,CACNA1I EXON Silent,Missense_H505N exm1610274 22 40043923 [T/C] NM_001003406,NM_021096 CACNA1I,CACNA1I EXON Silent,Missense_S520L exm1610290 22 40045718 [T/G] NM_001003406,NM_021096 CACNA1I,CACNA1I EXON Missense_A559S,Missense_A594S exm1610317 22 40055726 [A/G] NM_001003406,NM_021096 CACNA1I,CACNA1I EXON Missense_V790I,Missense_V825I exm1610325 22 40056439 [A/G] NM_001003406,NM_021096 CACNA1I,CACNA1I EXON Missense_G864R,Missense_G899R exm1610346 22 40058393 [T/A] NM_001003406,NM_021096 CACNA1I,CACNA1I EXON Missense_M1074L,Missense_M1109L exm2235750 22 40059723 [A/G] NM_001003406,NM_021096 CACNA1I,CACNA1I EXON Synonymous_R1123R,Synonymous_R1158R exm1610358 22 40059828 [G/C] NM_001003406,NM_021096 CACNA1I,CACNA1I EXON Missense_Q1158H,Missense_Q1193H exm1610381 22 40066191 [A/G] NM_001003406,NM_021096 CACNA1I,CACNA1I EXON Missense_R1413Q,Missense_R1448Q exm2011567 22 40066233 [A/G] NM_001003406,NM_021096 CACNA1I,CACNA1I EXON Missense_R1427Q,Missense_R1462Q exm1610387 22 40066873 [A/C] NM_001003406,NM_021096 CACNA1I,CACNA1I EXON Missense_T1450P,Missense_T1485P exm1610391 22 40068267 [T/G] NM_001003406,NM_021096 CACNA1I,CACNA1I EXON Missense_V1500L,Missense_V1535L exm1610417 22 40075733 [A/C] NM_001003406,NM_021096 CACNA1I,CACNA1I EXON Missense_L1766M,Missense_L1801M exm1610425 22 40076951 [T/C] NM_001003406,NM_021096 CACNA1I,CACNA1I EXON Missense_T1818M,Missense_T1853M exm1610435 22 40078571 [T/C] NM_001003406,NM_021096 CACNA1I,CACNA1I EXON Missense_T1877M,Missense_T1912M exm1610461 22 40139865 [A/G] NM_152512 ENTHD1 EXON Missense_I548T exm1610470 22 40140166 [T/C] NM_152512 ENTHD1 EXON Missense_T448A exm1610471 22 40140181 [T/C] NM_152512 ENTHD1 EXON Missense_G443R exm1610476 22 40161282 [G/C] NM_152512 ENTHD1 EXON Missense_P389A exm1610478 22 40161305 [A/G] NM_152512 ENTHD1 EXON Missense_V381A exm1610487 22 40217114 [A/G] NM_152512 ENTHD1 EXON Missense_L239P exm1610499 22 40257832 [A/G] NM_152512 ENTHD1 EXON Missense_P177L exm1610505 22 40257887 [T/C] NM_152512 ENTHD1 EXON Missense_K159E exm1610516 22 40283427 [A/G] NM_152512 ENTHD1 EXON Missense_I109T exm1610547 22 40362152 [A/G] NM_004810 GRAP2 EXON Missense_R150Q exm1610548 22 40364052 [T/C] NM_004810 GRAP2 EXON Missense_R156W exm1610566 22 40365463 [A/G] NM_004810 GRAP2 EXON Missense_G247S exm2235754 22 40366910 [A/G] NM_004810 GRAP2 EXON Missense_R272Q exm1610571 22 40366915 [T/C] NM_004810 GRAP2 EXON Missense_R274W exm1610572 22 40366924 [T/C] NM_004810 GRAP2 EXON Missense_R277W exm1610573 22 40366925 [A/G] NM_004810 GRAP2 EXON Missense_R277Q exm1610590 22 40415226 [A/G] NM_138435 FAM83F EXON Missense_V182M exm1610592 22 40415247 [T/C] NM_138435 FAM83F EXON Missense_R189W exm1610597 22 40415323 [T/C] NM_138435 FAM83F EXON Missense_T214I exm1610601 22 40415903 [T/C] NM_138435 FAM83F EXON Missense_R224C exm1610611 22 40415968 [T/G] NM_138435 FAM83F EXON Missense_R245S exm1610613 22 40415988 [A/G] NM_138435 FAM83F EXON Missense_D252G exm1610628 22 40417514 [T/C] NM_138435 FAM83F EXON Missense_R334C exm1610636 22 40417604 [A/G] NM_138435 FAM83F EXON Missense_G364S exm1610641 22 40417683 [T/C] NM_138435 FAM83F EXON Missense_P390L exm1610643 22 40417734 [T/C] NM_138435 FAM83F EXON Missense_M407T exm1610645 22 40417761 [A/G] NM_138435 FAM83F EXON Missense_R416Q exm1610647 22 40417776 [A/G] NM_138435 FAM83F EXON Missense_R421Q exm1610650 22 40417794 [T/C] NM_138435 FAM83F EXON Missense_A427V exm1610652 22 40417800 [G/C] NM_138435 FAM83F EXON Missense_R429P exm1610655 22 40417820 [A/G] NM_138435 FAM83F EXON Missense_R436G exm1610659 22 40417851 [A/G] NM_138435 FAM83F EXON Missense_R446Q exm1610663 22 40417875 [A/G] NM_138435 FAM83F EXON Missense_N454S exm1610666 22 40417943 [A/G] NM_138435 FAM83F EXON Missense_E477K exm1610667 22 40417964 [T/C] NM_138435 FAM83F EXON Missense_S484P exm1610669 22 40425535 [A/G] NM_138435 FAM83F EXON Missense_S490N exm-rs9623117 22 40452119 [T/C] NM_001024843 TNRC6B Silent exm2264744 22 40526472 [A/C] NM_001024843 TNRC6B Silent exm1610676 22 40552119 [A/G] NM_001024843 TNRC6B EXON Missense_V16M exm-rs12484776 22 40652873 [A/G] NM_001024843,NM_001162501,NM_015088 TNRC6B,TNRC6B,TNRC6B Silent,Silent,Silent exm1610701 22 40658145 [T/C] NM_001024843,NM_001162501,NM_015088 TNRC6B,TNRC6B,TNRC6B EXON Missense_A178V,Missense_A142V,Missense_A142V exm1610711 22 40660856 [A/G] NM_001024843,NM_001162501,NM_015088 TNRC6B,TNRC6B,TNRC6B EXON Silent,Missense_T208A,Missense_T208A exm1610714 22 40660887 [A/G] NM_001024843,NM_001162501,NM_015088 TNRC6B,TNRC6B,TNRC6B EXON Silent,Missense_N218S,Missense_N218S exm1610722 22 40661105 [A/G] NM_001024843,NM_001162501,NM_015088 TNRC6B,TNRC6B,TNRC6B EXON Silent,Missense_D291N,Missense_D291N exm1610723 22 40661109 [A/G] NM_001024843,NM_001162501,NM_015088 TNRC6B,TNRC6B,TNRC6B EXON Silent,Missense_R292K,Missense_R292K exm1610724 22 40661112 [T/C] NM_001024843,NM_001162501,NM_015088 TNRC6B,TNRC6B,TNRC6B EXON Silent,Missense_I293T,Missense_I293T exm1610738 22 40661483 [C/G] NM_001024843,NM_001162501,NM_015088 TNRC6B,TNRC6B,TNRC6B EXON Silent,Missense_R417G,Missense_R417G exm1610740 22 40661502 [T/G] NM_001024843,NM_001162501,NM_015088 TNRC6B,TNRC6B,TNRC6B EXON Silent,Missense_G423V,Missense_G423V exm1610750 22 40661729 [C/G] NM_001024843,NM_001162501,NM_015088 TNRC6B,TNRC6B,TNRC6B EXON Silent,Missense_G499R,Missense_G499R exm1610752 22 40661846 [T/C] NM_001024843,NM_001162501,NM_015088 TNRC6B,TNRC6B,TNRC6B EXON Silent,Missense_W538R,Missense_W538R exm2275204 22 40661867 [T/C] NM_001024843,NM_001162501,NM_015088 TNRC6B,TNRC6B,TNRC6B EXON Silent,Missense_P545S,Missense_P545S exm1610756 22 40661979 [A/G] NM_001024843,NM_001162501,NM_015088 TNRC6B,TNRC6B,TNRC6B EXON Silent,Missense_S582N,Missense_S582N exm1610766 22 40662207 [T/C] NM_001024843,NM_001162501,NM_015088 TNRC6B,TNRC6B,TNRC6B EXON Silent,Missense_T658I,Missense_T658I exm1610771 22 40662540 [T/C] NM_001024843,NM_001162501,NM_015088 TNRC6B,TNRC6B,TNRC6B EXON Silent,Missense_V769A,Missense_V769A exm1610774 22 40662585 [T/G] NM_001024843,NM_001162501,NM_015088 TNRC6B,TNRC6B,TNRC6B EXON Silent,Missense_G784V,Missense_G784V exm1610785 22 40662789 [A/G] NM_001024843,NM_001162501,NM_015088 TNRC6B,TNRC6B,TNRC6B EXON Silent,Missense_R852Q,Missense_R852Q exm1610786 22 40662843 [A/C] NM_001024843,NM_001162501,NM_015088 TNRC6B,TNRC6B,TNRC6B EXON Silent,Missense_E870A,Missense_E870A exm1610791 22 40662984 [G/C] NM_001024843,NM_001162501,NM_015088 TNRC6B,TNRC6B,TNRC6B EXON Silent,Missense_G917A,Missense_G917A exm1610798 22 40666230 [T/C] NM_001024843,NM_001162501,NM_015088 TNRC6B,TNRC6B,TNRC6B EXON Missense_S224P,Missense_S971P,Silent exm1610803 22 40669482 [A/G] NM_001024843,NM_001162501,NM_015088 TNRC6B,TNRC6B,TNRC6B EXON Missense_A260T,Missense_A1007T,Missense_A954T exm1610813 22 40676095 [A/C] NM_001024843,NM_001162501,NM_015088 TNRC6B,TNRC6B,TNRC6B EXON Missense_P373Q,Missense_P1120Q,Missense_P1067Q exm1610824 22 40697319 [A/G] NM_001024843,NM_001162501,NM_015088 TNRC6B,TNRC6B,TNRC6B EXON Missense_I564V,Missense_I1368V,Missense_I1258V exm-rs139909 22 40697581 [T/C] NM_001024843,NM_001162501,NM_015088 TNRC6B,TNRC6B,TNRC6B Silent,Silent,Silent exm1610836 22 40708907 [A/G] NM_001024843,NM_001162501,NM_015088 TNRC6B,TNRC6B,TNRC6B EXON Synonymous_G724G,Synonymous_G1528G,Synonymous_G1418G exm-rs470113 22 40729614 [A/G] NM_001024843,NM_001162501,NM_015088 TNRC6B,TNRC6B,TNRC6B EXON Silent,Silent,Silent exm1610857 22 40742567 [T/C] NM_000026,NM_001123378 ADSL,ADSL EXON Missense_A2V,Missense_A2V exm1610898 22 40750289 [A/T] NM_000026,NM_001123378 ADSL,ADSL EXON Missense_K147M,Missense_K147M exm1610909 22 40755001 [T/G] NM_000026,NM_001123378 ADSL,ADSL EXON Missense_A206S,Missense_A206S exm2011784 22 40755034 [G/C] NM_000026,NM_001123378 ADSL,ADSL EXON Missense_H217D,Missense_H217D exm1610924 22 40757509 [T/C] NM_000026,NM_001123378 ADSL,ADSL EXON Missense_Y294H,Missense_Y294H exm1610926 22 40757524 [A/G] NM_000026,NM_001123378 ADSL,ADSL EXON Missense_M299V,Missense_M299V exm1610936 22 40760293 [A/G] NM_000026,NM_001123378 ADSL,ADSL EXON Missense_R372H,Missense_R372H exm1610941 22 40760954 [A/G] NM_000026,NM_001123378 ADSL,ADSL EXON Missense_N421S,Silent exm1610942 22 40760969 [A/G] NM_000026,NM_001123378 ADSL,ADSL EXON Missense_R426H,Silent exm1610944 22 40760983 [A/G] NM_000026,NM_001123378 ADSL,ADSL EXON Missense_A431T,Silent exm1610955 22 40797647 [T/C] NM_015705 SGSM3 EXON Missense_W20R exm2011807 22 40800386 [T/C] NM_015705 SGSM3 EXON Missense_A98V exm1610973 22 40800400 [T/C] NM_015705 SGSM3 EXON Missense_R103C exm1610984 22 40800632 [C/G] NM_015705 SGSM3 EXON Missense_K146N exm1610986 22 40800645 [A/G] NM_015705 SGSM3 EXON Missense_D151N exm2011823 22 40801688 [C/G] NM_015705 SGSM3 EXON Missense_E218D exm1611015 22 40802115 [T/C] NM_015705 SGSM3 EXON Missense_T283M exm1611036 22 40802548 [A/G] NM_015705 SGSM3 EXON Missense_R356Q exm1611041 22 40802631 [T/C] NM_015705 SGSM3 EXON Missense_L384F exm1611046 22 40803074 [T/C] NM_015705 SGSM3 EXON Synonymous_F413F exm2261229 22 40803186 [T/G] NM_015705 SGSM3 Silent exm1611056 22 40803285 [T/C] NM_015705 SGSM3 EXON Missense_R441C exm1611058 22 40803288 [A/G] NM_015705 SGSM3 EXON Missense_V442M exm1611070 22 40803478 [A/G] NM_015705 SGSM3 EXON Missense_C477Y exm1611079 22 40803845 [A/G] NM_015705 SGSM3 EXON Missense_R526Q exm1611116 22 40804845 [A/G] NM_015705 SGSM3 EXON Missense_R634Q exm1611123 22 40804979 [G/C] NM_015705 SGSM3 EXON Missense_Q649E exm1611125 22 40805280 [A/G] NM_015705 SGSM3 EXON Missense_E672G exm1611146 22 40805710 [A/G] NM_015705 SGSM3 EXON Missense_V733I exm2011878 22 40805713 [T/C] NM_015705 SGSM3 EXON Missense_R734W exm1611177 22 40813413 [A/G] NM_020831 MKL1 EXON Missense_P717S exm2011896 22 40814431 [T/C] NM_020831 MKL1 EXON Missense_V671M exm1611187 22 40814461 [T/C] NM_020831 MKL1 EXON Missense_D661N exm1611191 22 40814500 [T/C] NM_020831 MKL1 EXON Missense_S648G exm1611193 22 40814533 [T/C] NM_020831 MKL1 EXON Missense_A637T exm1611195 22 40814542 [A/G] NM_020831 MKL1 EXON Missense_P634S exm1611200 22 40814581 [T/C] NM_020831 MKL1 EXON Missense_V621M exm1611216 22 40814749 [T/C] NM_020831 MKL1 EXON Missense_A565T exm1611225 22 40814878 [T/C] NM_020831 MKL1 EXON Missense_D522N exm1611232 22 40814950 [T/C] NM_020831 MKL1 EXON Missense_V498M exm1611235 22 40814965 [T/G] NM_020831 MKL1 EXON Missense_P493T exm1611239 22 40814988 [A/G] NM_020831 MKL1 EXON Missense_T485M exm1611245 22 40815048 [A/G] NM_020831 MKL1 EXON Missense_T465M exm2275205 22 40815190 [T/C] NM_020831 MKL1 EXON Missense_G418R exm1611260 22 40815256 [T/C] NM_020831 MKL1 EXON Missense_A396T exm1611263 22 40815309 [T/C] NM_020831 MKL1 EXON Missense_R378Q exm1611269 22 40816431 [A/G] NM_020831 MKL1 EXON Missense_P344L exm1611270 22 40816443 [A/G] NM_020831 MKL1 EXON Missense_P340L exm1611275 22 40816503 [A/G] NM_020831 MKL1 EXON Missense_S320L exm1611278 22 40816548 [T/G] NM_020831 MKL1 EXON Missense_T305N exm1611282 22 40816889 [G/C] NM_020831 MKL1 EXON Missense_Q281H exm1611287 22 40819589 [T/G] NM_020831 MKL1 EXON Missense_T193N exm1611290 22 40819629 [G/C] NM_020831 MKL1 EXON Missense_P180A exm-rs5757949 22 40820151 [T/C] NM_020831 MKL1 Silent exm1611294 22 40820248 [T/C] NM_020831 MKL1 EXON Missense_E147K exm1611295 22 40820273 [T/C] NM_020831 MKL1 EXON Synonymous_P138P exm1611296 22 40820311 [T/C] NM_020831 MKL1 EXON Missense_E126K exm2011931 22 40831541 [T/C] NM_020831 MKL1 EXON Missense_A9T exm2264738 22 40849704 [A/C] NM_020831 MKL1 Silent exm1611317 22 41075523 [T/C] NM_005297 MCHR1 EXON Missense_T25M exm1611318 22 41075532 [A/T] NM_005297 MCHR1 EXON Missense_D28V exm1611330 22 41075615 [T/A] NM_005297 MCHR1 EXON Missense_S56C exm1611332 22 41075645 [A/G] NM_005297 MCHR1 EXON Missense_G66S exm1611339 22 41075733 [T/C] NM_005297 MCHR1 EXON Missense_S95L exm1611340 22 41076970 [A/G] NM_005297 MCHR1 EXON Missense_G103R exm1611341 22 41076982 [T/C] NM_005297 MCHR1 EXON Missense_Y107H exm1611345 22 41077066 [A/G] NM_005297 MCHR1 EXON Missense_V135M exm1611353 22 41077343 [T/C] NM_005297 MCHR1 EXON Missense_S227F exm1611363 22 41077549 [A/G] NM_005297 MCHR1 EXON Missense_A296T exm1611369 22 41077594 [A/G] NM_005297 MCHR1 EXON Missense_A311T exm1611371 22 41077613 [A/G] NM_005297 MCHR1 EXON Missense_R317Q exm2012089 22 41077832 [A/G] NM_005297 MCHR1 EXON Missense_R390H exm1611390 22 41077864 [A/G] NM_005297 MCHR1 EXON Missense_G401R exm1611393 22 41077895 [T/C] NM_005297 MCHR1 EXON Missense_T411M exm2012110 22 41166855 [A/G] NM_006358 SLC25A17 EXON Missense_R303C exm1611401 22 41166867 [T/C] NM_006358 SLC25A17 EXON Missense_M299V exm1611402 22 41166911 [A/G] NM_006358 SLC25A17 EXON Missense_M284T exm1611406 22 41169950 [T/C] NM_006358 SLC25A17 EXON Missense_Q256R exm1611407 22 41169951 [A/G] NM_006358 SLC25A17 EXON Nonsense_Q256X exm1611409 22 41169975 [A/G] NM_006358 SLC25A17 EXON Missense_R248W exm1611410 22 41169984 [T/C] NM_006358 SLC25A17 EXON Missense_G245R exm2273037 22 41170063 [T/C] NM_006358 SLC25A17 Silent exm1611419 22 41173106 [T/C] NM_006358 SLC25A17 EXON Missense_V211I exm1611420 22 41173118 [T/C] NM_006358 SLC25A17 EXON Missense_I207V exm1611436 22 41188570 [T/C] NM_006358 SLC25A17 EXON Missense_H98R exm1611462 22 41223206 [T/C] NM_003932 ST13 EXON Missense_N292S exm1611467 22 41226872 [A/G] NM_003932 ST13 EXON Missense_A257V exm1611496 22 41244346 [C/G] NM_003932 ST13 EXON Missense_E66Q exm1611517 22 41253248 [A/G] NM_001204827,NM_022098 XPNPEP3,XPNPEP3 EXON Synonymous_S21S,Synonymous_S21S exm1611531 22 41257393 [A/C] NM_001204827,NM_022098,NM_145174 XPNPEP3,XPNPEP3,DNAJB7 EXON Silent,Silent,Missense_K202N exm1611533 22 41257445 [A/G] NM_001204827,NM_022098,NM_145174 XPNPEP3,XPNPEP3,DNAJB7 EXON Silent,Silent,Missense_I185T exm1611535 22 41257469 [T/C] NM_001204827,NM_022098,NM_145174 XPNPEP3,XPNPEP3,DNAJB7 EXON Silent,Silent,Missense_D177G exm1611538 22 41257503 [T/C] NM_001204827,NM_022098,NM_145174 XPNPEP3,XPNPEP3,DNAJB7 EXON Silent,Silent,Missense_E166K exm1611542 22 41257566 [T/G] NM_001204827,NM_022098,NM_145174 XPNPEP3,XPNPEP3,DNAJB7 EXON Silent,Silent,Missense_P145T exm1611543 22 41257620 [A/C] NM_001204827,NM_022098,NM_145174 XPNPEP3,XPNPEP3,DNAJB7 EXON Silent,Silent,Missense_Y127D exm1611545 22 41257631 [A/G] NM_001204827,NM_022098,NM_145174 XPNPEP3,XPNPEP3,DNAJB7 EXON Silent,Silent,Missense_P123L exm1611546 22 41257634 [T/C] NM_001204827,NM_022098,NM_145174 XPNPEP3,XPNPEP3,DNAJB7 EXON Silent,Silent,Missense_R122H exm1611563 22 41257877 [T/G] NM_001204827,NM_022098,NM_145174 XPNPEP3,XPNPEP3,DNAJB7 EXON Silent,Silent,Missense_E41A exm1611573 22 41277980 [G/C] NM_022098 XPNPEP3 EXON Missense_P130A exm1611576 22 41278055 [T/C] NM_022098 XPNPEP3 EXON Missense_R155W exm1611577 22 41278056 [A/G] NM_022098 XPNPEP3 EXON Missense_R155Q exm1611591 22 41282493 [T/C] NM_022098 XPNPEP3 EXON Nonsense_Q256X exm1611612 22 41320373 [A/G] NM_022098 XPNPEP3 EXON Missense_R415Q exm1611620 22 41322392 [C/G] NM_022098 XPNPEP3 EXON Missense_P493A exm1611621 22 41322431 [A/G] NM_022098 XPNPEP3 EXON Missense_A506T exm1611652 22 41513412 [A/G] NM_001429 EP300 EXON Missense_S106G exm1611660 22 41513544 [T/C] NM_001429 EP300 EXON Missense_S150P exm1611667 22 41513682 [A/G] NM_001429 EP300 EXON Missense_I196V exm1611670 22 41513727 [A/G] NM_001429 EP300 EXON Missense_G211S exm2255201 22 41513774 [G/C] NM_001429 EP300 EXON Synonymous_G226G exm1611673 22 41513774 [G/C] NM_001429 EP300 EXON Synonymous_G226G exm1611676 22 41521877 [A/G] NM_001429 EP300 EXON Missense_M247V exm1611677 22 41521890 [A/G] NM_001429 EP300 EXON Missense_N251S exm1611683 22 41522003 [A/G] NM_001429 EP300 EXON Missense_M289V exm2012357 22 41526007 [T/C] NM_001429 EP300 EXON Missense_P428S exm1611696 22 41527461 [A/C] NM_001429 EP300 EXON Missense_P451H exm1611703 22 41527628 [A/G] NM_001429 EP300 EXON Missense_S507G exm1611732 22 41542766 [A/G] NM_001429 EP300 EXON Missense_M693V exm1611735 22 41542780 [T/G] NM_001429 EP300 EXON Missense_S697R exm1611736 22 41542799 [T/C] NM_001429 EP300 EXON Missense_P704S exm1611746 22 41545151 [T/C] NM_001429 EP300 EXON Missense_P784L exm1611758 22 41545919 [C/G] NM_001429 EP300 EXON Missense_T845S exm2012422 22 41545957 [A/G] NM_001429 EP300 EXON Missense_T858A exm2012423 22 41545961 [T/C] NM_001429 EP300 EXON Missense_I859T exm1611765 22 41546041 [T/C] NM_001429 EP300 EXON Missense_P886S exm2012425 22 41546131 [T/A] NM_001429 EP300 EXON Missense_S916T exm1611768 22 41546150 [T/C] NM_001429 EP300 EXON Missense_A922V exm1611770 22 41546158 [A/C] NM_001429 EP300 EXON Missense_P925T exm1611785 22 41548008 [A/G] NM_001429 EP300 EXON Missense_I997V exm1611814 22 41564725 [A/G] NM_001429 EP300 EXON Synonymous_R1342R exm1611817 22 41565548 [A/G] NM_001429 EP300 EXON Missense_R1405H exm2255205 22 41568649 [G/C] NM_001429 EP300 EXON Synonymous_T1533T exm1611836 22 41572269 [G/C] NM_001429 EP300 EXON Missense_L1600V exm1611845 22 41572862 [C/G] NM_001429 EP300 EXON Missense_S1716T exm2275206 22 41573338 [T/C] NM_001429 EP300 EXON Missense_P1875S exm2012488 22 41573384 [G/C] NM_001429 EP300 EXON Missense_T1890S exm1611890 22 41573672 [T/C] NM_001429 EP300 EXON Missense_P1986L exm1611898 22 41573798 [T/C] NM_001429 EP300 EXON Missense_A2028V exm1611905 22 41574004 [C/G] NM_001429 EP300 EXON Missense_P2097A exm1611907 22 41574026 [A/C] NM_001429 EP300 EXON Missense_P2104H exm1611914 22 41574105 [A/G] NM_001429 EP300 EXON Missense_M2130I exm2012498 22 41574253 [T/C] NM_001429 EP300 EXON Nonsense_R2180X exm1611923 22 41574356 [T/C] NM_001429 EP300 EXON Missense_P2214L exm1611925 22 41574383 [A/C] NM_001429 EP300 EXON Missense_Q2223P exm1611942 22 41574632 [A/G] NM_001429 EP300 EXON Missense_Q2306R exm1611951 22 41574764 [G/C] NM_001429 EP300 EXON Missense_G2350A exm1611956 22 41574850 [A/C] NM_001429 EP300 EXON Missense_N2379H exm2235777 22 41574928 [A/G] NM_001429 EP300 EXON Missense_N2405D exm1611974 22 41601385 [A/G] NM_031488 L3MBTL2 EXON Missense_I7V exm1611981 22 41605776 [G/C] NM_031488 L3MBTL2 EXON Missense_R34P exm1611984 22 41605809 [C/G] NM_031488 L3MBTL2 EXON Missense_S45T exm1611997 22 41612265 [T/C] NM_031488 L3MBTL2 EXON Synonymous_D173D exm1612020 22 41617247 [T/C] NM_031488 L3MBTL2 EXON Missense_R300W exm1612021 22 41617250 [G/C] NM_031488 L3MBTL2 EXON Missense_L301V exm1612022 22 41617254 [T/G] NM_031488 L3MBTL2 EXON Missense_V302G exm1612026 22 41620091 [T/C] NM_031488 L3MBTL2 EXON Missense_V337A exm2255208 22 41623275 [T/C] NM_031488 L3MBTL2 EXON Synonymous_P590P exm1612072 22 41623324 [T/G] NM_031488 L3MBTL2 EXON Missense_A607S exm1612076 22 41623820 [T/C] NM_031488 L3MBTL2 EXON Missense_P612L exm1612102 22 41631149 [T/C] NM_138481 CHADL EXON Synonymous_K754K exm1612106 22 41631250 [T/C] NM_138481 CHADL EXON Missense_D721N exm2235781 22 41632540 [T/C] NM_138481 CHADL EXON Missense_D671N exm1612131 22 41634806 [T/G] NM_138481 CHADL EXON Missense_H90Q exm1612167 22 41647049 [T/C] NM_002883 RANGAP1 EXON Missense_D482G exm2012605 22 41650338 [A/G] NM_002883 RANGAP1 EXON Missense_R412W exm1612199 22 41652080 [G/C] NM_002883 RANGAP1 EXON Missense_Q340E exm1612202 22 41652257 [C/G] NM_002883 RANGAP1 EXON Missense_A309G exm1612205 22 41652732 [T/C] NM_002883 RANGAP1 EXON Missense_G291S exm1612211 22 41652806 [A/C] NM_002883 RANGAP1 EXON Missense_V266G exm1612217 22 41654029 [T/C] NM_002883 RANGAP1 EXON Missense_A233T exm1612218 22 41654030 [A/G] NM_002883 RANGAP1 EXON Synonymous_F232F exm2235783 22 41654049 [T/G] NM_002883 RANGAP1 EXON Missense_T226N exm2235784 22 41660673 [T/C] NM_002883 RANGAP1 EXON Missense_G159S exm1612228 22 41660747 [A/G] NM_002883 RANGAP1 EXON Missense_A134V exm2012652 22 41660751 [C/G] NM_002883 RANGAP1 EXON Missense_E133Q exm1612231 22 41660826 [T/C] NM_002883 RANGAP1 EXON Missense_I108V exm1612255 22 41721792 [A/G] NM_017590 ZC3H7B EXON Missense_Y52C exm1612274 22 41726079 [A/G] NM_017590 ZC3H7B EXON Missense_R166Q exm1612281 22 41728205 [A/G] NM_017590 ZC3H7B EXON Missense_G186S exm2012808 22 41735050 [T/C] NM_017590 ZC3H7B EXON Missense_T224M exm1612297 22 41735060 [A/G] NM_017590 ZC3H7B EXON Missense_M227I exm1612318 22 41736000 [A/G] NM_017590 ZC3H7B EXON Missense_A333T exm1612327 22 41736090 [A/G] NM_017590 ZC3H7B EXON Missense_D363N exm2012820 22 41737145 [A/C] NM_017590 ZC3H7B EXON Missense_P398T exm1612331 22 41737149 [T/C] NM_017590 ZC3H7B EXON Missense_S399L exm1612339 22 41739451 [A/G] NM_017590 ZC3H7B EXON Missense_G444S exm1612347 22 41739523 [T/C] NM_017590 ZC3H7B EXON Missense_R468W exm1612355 22 41742139 [A/G] NM_017590 ZC3H7B EXON Missense_G531D exm1612370 22 41747576 [A/G] NM_017590 ZC3H7B EXON Missense_E654K exm1612372 22 41751488 [T/C] NM_017590 ZC3H7B EXON Missense_H684Y exm1612396 22 41752747 [A/G] NM_017590 ZC3H7B EXON Synonymous_T872T exm1612398 22 41752753 [A/C] NM_017590 ZC3H7B EXON Missense_D874E exm1612400 22 41753221 [T/C] NM_017590 ZC3H7B EXON Missense_R908C exm1612413 22 41763602 [A/G] NM_001145398 TEF EXON Synonymous_T22T exm-rs5751086 22 41768862 [T/C] NM_001145398 TEF Silent exm1612465 22 41832319 [T/C] NM_016272 TOB2 EXON Missense_N344S exm1612469 22 41832425 [T/C] NM_016272 TOB2 EXON Missense_A309T exm1612471 22 41832485 [T/C] NM_016272 TOB2 EXON Missense_S289G exm1612474 22 41832514 [T/C] NM_016272 TOB2 EXON Missense_G279D exm1612483 22 41832641 [T/C] NM_016272 TOB2 EXON Missense_M237V exm1612488 22 41832698 [A/G] NM_016272 TOB2 EXON Missense_R218C exm1612496 22 41832844 [T/C] NM_016272 TOB2 EXON Missense_R169H exm1612497 22 41832845 [A/G] NM_016272 TOB2 EXON Missense_R169C exm1612498 22 41832923 [T/C] NM_016272 TOB2 EXON Missense_I143V exm1612502 22 41832989 [T/C] NM_016272 TOB2 EXON Missense_G121S exm1612508 22 41833129 [T/C] NM_016272 TOB2 EXON Missense_R74Q exm2268441 22 41880770 [A/G] NM_001098 ACO2 Silent exm1612537 22 41895745 [T/C] NM_001098 ACO2 EXON Missense_R18W exm1612547 22 41903841 [G/C] NM_001098 ACO2 EXON Missense_L74V exm1612550 22 41903866 [T/C] NM_001098 ACO2 EXON Missense_I82T exm1612570 22 41911805 [G/C] NM_001098 ACO2 EXON Missense_G240A exm1612600 22 41920947 [T/C] NM_001098 ACO2 EXON Missense_P527L exm1612638 22 41924552 [A/G] NM_001098,NM_138338,NM_001018050,NM_001018052 ACO2,POLR3H,POLR3H,POLR3H EXON Missense_E760K,Silent,Silent,Silent exm1612639 22 41924556 [T/C] NM_001098,NM_138338,NM_001018050,NM_001018052 ACO2,POLR3H,POLR3H,POLR3H EXON Missense_T761M,Silent,Silent,Silent exm1612641 22 41924573 [T/C] NM_001098,NM_138338,NM_001018050,NM_001018052 ACO2,POLR3H,POLR3H,POLR3H EXON Missense_R767C,Silent,Silent,Silent exm1612642 22 41924574 [A/G] NM_001098,NM_138338,NM_001018050,NM_001018052 ACO2,POLR3H,POLR3H,POLR3H EXON Missense_R767H,Silent,Silent,Silent exm1612654 22 41926730 [A/C] NM_138338,NM_001018050,NM_001018052 POLR3H,POLR3H,POLR3H EXON Missense_S174R,Missense_S174R,Missense_S145R exm1612655 22 41926756 [T/C] NM_138338,NM_001018050,NM_001018052 POLR3H,POLR3H,POLR3H EXON Missense_S166G,Missense_S166G,Missense_S137G exm1612657 22 41926773 [A/G] NM_138338,NM_001018050,NM_001018052 POLR3H,POLR3H,POLR3H EXON Missense_T160M,Missense_T160M,Missense_T131M exm1612661 22 41926807 [A/G] NM_138338,NM_001018050,NM_001018052 POLR3H,POLR3H,POLR3H EXON Missense_R149C,Missense_R149C,Missense_R120C exm1612701 22 41940075 [T/C] NM_138338,NM_001018050,NM_001018052 POLR3H,POLR3H,POLR3H EXON Missense_V11I,Missense_V11I,Missense_V11I exm1612707 22 41968068 [G/C] NM_014460 CSDC2 EXON Missense_R33S exm2013057 22 41970871 [T/C] NM_014460 CSDC2 EXON Missense_T145M exm1612733 22 41973390 [T/C] NM_002676 PMM1 EXON Missense_V241M exm1612745 22 41973890 [C/G] NM_002676 PMM1 EXON Missense_W196C exm1612758 22 41979974 [T/C] NM_002676 PMM1 EXON Missense_E155K exm1612768 22 41980547 [T/C] NM_002676 PMM1 EXON Missense_R89Q exm1612785 22 41985797 [A/C] NM_002676 PMM1 EXON Missense_A5S exm1612786 22 41985801 [A/G] NM_002676 PMM1 EXON Synonymous_V3V exm1612796 22 41999311 [T/C] NM_015704 DESI1 EXON Missense_R122Q exm1612800 22 42000072 [A/G] NM_015704 DESI1 EXON Missense_S89F exm1612850 22 42046810 [A/G] NM_001469 XRCC6 EXON Missense_M348I exm1612861 22 42057349 [A/G] NM_001469 XRCC6 EXON Missense_A513T exm1612908 22 42089623 [T/C] NM_001142964 C22orf46 EXON Missense_W125R exm1612909 22 42089630 [A/G] NM_001142964 C22orf46 EXON Missense_Q127R exm1612910 22 42089659 [T/C] NM_001142964 C22orf46 EXON Missense_P137S exm1612925 22 42095603 [A/G] NM_152513 MEI1 EXON Missense_A21T exm1612928 22 42095655 [T/C] NM_152513 MEI1 EXON Missense_P38L exm1612930 22 42095658 [T/G] NM_152513 MEI1 EXON Missense_V39G exm1612933 22 42095711 [G/C] NM_152513 MEI1 EXON Missense_V57L exm1612948 22 42110066 [A/C] NM_152513 MEI1 EXON Missense_E137A exm1612952 22 42112127 [T/C] NM_152513 MEI1 EXON Missense_A169V exm2013338 22 42114122 [T/G] NM_152513 MEI1 EXON Missense_G193C exm1612958 22 42114195 [A/G] NM_152513 MEI1 EXON Missense_G217E exm1612966 22 42125754 [T/C] NM_152513 MEI1 EXON Missense_A317V exm1612996 22 42149994 [A/G] NM_152513 MEI1 EXON Missense_Y632C exm1612997 22 42154386 [C/G] NM_152513 MEI1 EXON Missense_E657Q exm1613008 22 42159254 [T/C] NM_152513 MEI1 EXON Missense_P733S exm1613009 22 42159255 [A/C] NM_152513 MEI1 EXON Missense_P733Q exm1613011 22 42159270 [A/G] NM_152513 MEI1 EXON Missense_K738R exm1613015 22 42166724 [A/G] NM_152513 MEI1 EXON Missense_G768D exm1613016 22 42166729 [T/C] NM_152513 MEI1 EXON Missense_P770S exm1613020 22 42166894 [A/G] NM_152513 MEI1 EXON Missense_A825T exm1613023 22 42172109 [T/C] NM_152513 MEI1 EXON Missense_L850F exm1613024 22 42172118 [A/T] NM_152513 MEI1 EXON Missense_S853T exm1613032 22 42177317 [A/G] NM_152513 MEI1 EXON Missense_T949A exm1613034 22 42177378 [T/C] NM_152513 MEI1 EXON Missense_T969I exm1613041 22 42177841 [A/G] NM_152513 MEI1 EXON Missense_S1027G exm1613043 22 42180400 [A/G] NM_152513 MEI1 EXON Missense_K1049E exm-rs139553 22 42187199 [T/C] NM_152513 MEI1 Silent exm1613064 22 42191821 [T/C] NM_152513 MEI1 EXON Missense_S1250F exm1613066 22 42191844 [T/G] NM_152513 MEI1 EXON Missense_D1258Y exm1613075 22 42205957 [T/C] NM_024821 CCDC134 EXON Missense_H60Y exm-rs7364180 22 42218856 [A/G] NM_024821 CCDC134 Silent exm1613098 22 42221714 [A/G] NM_024821 CCDC134 EXON Missense_T193A exm1613101 22 42221757 [A/G] NM_024821 CCDC134 EXON Missense_R207Q exm1613127 22 42263057 [T/C] NM_004599 SREBF2 EXON Missense_A104V exm1613150 22 42264796 [A/G] NM_004599 SREBF2 EXON Synonymous_P240P exm2235800 22 42266998 [A/G] NM_004599 SREBF2 EXON Missense_A276T exm1613157 22 42267025 [T/G] NM_004599 SREBF2 EXON Missense_A285S exm1613169 22 42271363 [A/G] NM_004599 SREBF2 EXON Missense_R371K exm1613180 22 42271653 [A/C] NM_004599 SREBF2 EXON Missense_D437E exm1613193 22 42273963 [A/G] NM_004599 SREBF2 EXON Missense_D533N exm1613194 22 42273997 [T/G] NM_004599 SREBF2 EXON Missense_V544G exm1613201 22 42276724 [A/C] NM_004599 SREBF2 EXON Missense_D589A exm1613203 22 42276742 [G/C] NM_004599 SREBF2 EXON Missense_G595A exm1613208 22 42276825 [A/G] NM_004599 SREBF2 EXON Missense_V623M exm1613210 22 42276861 [T/C] NM_004599 SREBF2 EXON Missense_R635C exm1613213 22 42276895 [A/G] NM_004599 SREBF2 EXON Missense_R646Q exm1613217 22 42276955 [T/C] NM_004599 SREBF2 EXON Missense_A666V exm2013636 22 42280875 [A/G] NM_004599 SREBF2 EXON Missense_D690N exm1613230 22 42280996 [T/G] NM_004599 SREBF2 EXON Missense_G730V exm1613231 22 42281015 [T/C] NM_004599 SREBF2 EXON Synonymous_A736A exm1613239 22 42289234 [G/C] NM_004599 SREBF2 EXON Missense_S774R exm1613244 22 42293064 [T/C] NM_004599 SREBF2 EXON Missense_S835F exm1613251 22 42293140 [G/C] NM_004599 SREBF2 EXON Missense_R860S exm1613257 22 42294751 [C/G] NM_004599 SREBF2 EXON Missense_V902L exm1613272 22 42299074 [T/C] NM_004599 SREBF2 EXON Missense_A1003V exm1613276 22 42299116 [A/G] NM_004599 SREBF2 EXON Missense_S1017N exm1613283 22 42300939 [A/C] NM_004599 SREBF2 EXON Missense_H1056N exm1613295 22 42301477 [A/G] NM_004599 SREBF2 EXON Missense_R1080Q exm1613313 22 42321451 [A/G] NM_052945 TNFRSF13C EXON Missense_H159Y exm1613345 22 42336172 [A/G] NM_024053,NM_001110215,NM_001002876 CENPM,CENPM,CENPM EXON Silent,Nonsense_R3X,Silent exm1613348 22 42339675 [T/C] NM_024053,NM_001002876 CENPM,CENPM EXON Missense_R114Q,Silent exm1613349 22 42339699 [T/C] NM_024053,NM_001002876 CENPM,CENPM EXON Missense_R106Q,Silent exm1613352 22 42341308 [A/G] NM_024053,NM_001002876 CENPM,CENPM EXON Synonymous_S77S,Synonymous_S77S exm2268442 22 42343091 [A/G] NM_024053,NM_001002876 CENPM,CENPM EXON Silent,Silent exm1613380 22 42383245 [A/G] NM_145733,NM_019106 SEPT3,SEPT3 EXON Missense_V123I,Missense_V123I exm1613391 22 42387596 [T/C] NM_145733,NM_019106 SEPT3,SEPT3 EXON Missense_V230A,Missense_V230A exm2013748 22 42390746 [A/G] NM_145733,NM_019106 SEPT3,SEPT3 EXON Silent,Missense_D347N exm1613410 22 42394835 [C/G] NM_152613 WBP2NL EXON Missense_Q5E exm1613424 22 42416026 [T/C] NM_152613 WBP2NL EXON Missense_A111V exm1613426 22 42416056 [A/G] NM_152613 WBP2NL EXON Missense_D121G exm1613430 22 42418265 [T/G] NM_152613 WBP2NL EXON Missense_F140C exm1613431 22 42418294 [A/C] NM_152613 WBP2NL EXON Missense_S150R exm1613433 22 42418355 [T/G] NM_152613 WBP2NL EXON Missense_C170F exm1613437 22 42422869 [T/G] NM_152613 WBP2NL EXON Missense_G205V exm1613439 22 42422874 [A/C] NM_152613 WBP2NL EXON Missense_P207T exm1613454 22 42423069 [A/G] NM_152613 WBP2NL EXON Missense_G272R exm1613457 22 42423110 [C/G] NM_152613 WBP2NL EXON Missense_Q285H exm1613478 22 42457056 [T/C] NM_000262 NAGA EXON Missense_E325K exm1613489 22 42459001 [A/T] NM_000262 NAGA EXON Missense_L263I exm1613494 22 42461804 [T/C] NM_000262 NAGA EXON Missense_V233M exm1613504 22 42463137 [A/G] NM_000262 NAGA EXON Missense_T161I exm1613505 22 42463140 [G/C] NM_000262 NAGA EXON Missense_S160C exm2235809 22 42463269 [T/C] NM_000262 NAGA EXON Missense_G117D exm1613513 22 42463804 [G/C] NM_000262 NAGA EXON Missense_R97G exm1613514 22 42463813 [T/C] NM_000262 NAGA EXON Missense_D94N exm1613521 22 42464459 [C/G] NM_000262 NAGA EXON Missense_P46A exm2273039 22 42468910 [T/C] exm1613539 22 42473586 [T/C] NM_001002034 FAM109B EXON Missense_R97C exm1613545 22 42473683 [A/G] NM_001002034 FAM109B EXON Missense_R129H exm1613553 22 42473860 [C/G] NM_001002034 FAM109B EXON Missense_A188G exm2013911 22 42473883 [A/G] NM_001002034 FAM109B EXON Missense_G196R exm1613558 22 42473986 [A/G] NM_001002034 FAM109B EXON Nonsense_W230X exm1613561 22 42474003 [A/G] NM_001002034 FAM109B EXON Missense_V236M exm1613562 22 42474068 [T/G] NM_001002034 FAM109B EXON Missense_D257E exm1613567 22 42475792 [G/C] NM_033318 C22orf32 EXON Missense_R7P exm1613573 22 42475860 [A/G] NM_033318 C22orf32 EXON Missense_D30N exm1613583 22 42477948 [A/G] NM_033318 C22orf32 EXON Missense_R69H exm1613593 22 42482252 [A/G] NM_002490 NDUFA6 EXON Missense_H134Y exm1613601 22 42483090 [T/C] NM_002490 NDUFA6 EXON Missense_R103G exm2013925 22 42486611 [A/G] NM_002490 NDUFA6 EXON Synonymous_T72T exm1613605 22 42486723 [A/G] NM_002490 NDUFA6 EXON Missense_A35V exm1613611 22 42486765 [T/C] NM_002490 NDUFA6 EXON Missense_S21N exm1613613 22 42486789 [A/G] NM_002490 NDUFA6 EXON Missense_A13V exm1613617 22 42486804 [C/G] NM_002490 NDUFA6 EXON Missense_R8P exm1613628 22 42522684 [G/C] NM_000106,NM_001025161 CYP2D6,CYP2D6 EXON Missense_Q462H,Missense_Q411H exm1613665 22 42523844 [A/G] NM_000106,NM_001025161 CYP2D6,CYP2D6 EXON Missense_R329C,Missense_R278C exm1613669 22 42523855 [A/G] NM_000106,NM_001025161 CYP2D6,CYP2D6 EXON Missense_P325L,Missense_P274L exm1613684 22 42523975 [T/C] NM_000106,NM_001025161 CYP2D6,CYP2D6 EXON Missense_N285S,Missense_N234S exm1613716 22 42524817 [T/C] NM_000106,NM_001025161 CYP2D6,CYP2D6 EXON Missense_G212E,Missense_G161E exm2235815 22 42525182 [A/T] NM_000106,NM_001025161 CYP2D6,CYP2D6 EXON Missense_F120I,Silent exm1613783 22 42526670 [T/C] NM_000106,NM_001025161 CYP2D6,CYP2D6 EXON Missense_G42R,Missense_G42R exm2014021 22 42557363 [A/G] NM_181492,NM_005650 TCF20,TCF20 EXON Missense_V1934A,Silent exm2276770 22 42564717 [C/G] NM_181492,NM_005650 TCF20,TCF20 EXON Silent,Missense_P1942R exm2014029 22 42564718 [A/G] NM_181492,NM_005650 TCF20,TCF20 EXON Silent,Missense_P1942S exm1613843 22 42564732 [A/G] NM_181492,NM_005650 TCF20,TCF20 EXON Silent,Missense_P1937L exm1613855 22 42575687 [T/C] NM_181492,NM_005650 TCF20,TCF20 EXON Missense_A1893T,Missense_A1893T exm1613860 22 42605724 [T/C] NM_181492,NM_005650 TCF20,TCF20 EXON Missense_N1863S,Missense_N1863S exm1613862 22 42605766 [T/C] NM_181492,NM_005650 TCF20,TCF20 EXON Missense_S1849N,Missense_S1849N exm1613863 22 42605821 [T/C] NM_181492,NM_005650 TCF20,TCF20 EXON Missense_T1831A,Missense_T1831A exm1613865 22 42605878 [T/C] NM_181492,NM_005650 TCF20,TCF20 EXON Missense_A1812T,Missense_A1812T exm1613878 22 42606078 [A/G] NM_181492,NM_005650 TCF20,TCF20 EXON Missense_M1745T,Missense_M1745T exm1613901 22 42606642 [A/G] NM_181492,NM_005650 TCF20,TCF20 EXON Missense_P1557L,Missense_P1557L exm1613922 22 42607071 [A/G] NM_181492,NM_005650 TCF20,TCF20 EXON Missense_S1414L,Missense_S1414L exm1613927 22 42607194 [A/G] NM_181492,NM_005650 TCF20,TCF20 EXON Missense_A1373V,Missense_A1373V exm1613934 22 42607338 [T/C] NM_181492,NM_005650 TCF20,TCF20 EXON Missense_S1325N,Missense_S1325N exm1613948 22 42607605 [A/G] NM_181492,NM_005650 TCF20,TCF20 EXON Missense_M1236T,Missense_M1236T exm1613955 22 42607817 [T/C] NM_181492,NM_005650 TCF20,TCF20 EXON Missense_M1165I,Missense_M1165I exm1613970 22 42608044 [A/G] NM_181492,NM_005650 TCF20,TCF20 EXON Missense_Y1090H,Missense_Y1090H exm1613971 22 42608058 [T/C] NM_181492,NM_005650 TCF20,TCF20 EXON Missense_Y1085C,Missense_Y1085C exm1613979 22 42608347 [A/G] NM_181492,NM_005650 TCF20,TCF20 EXON Missense_R989W,Missense_R989W exm2014099 22 42608515 [A/G] NM_181492,NM_005650 TCF20,TCF20 EXON Missense_F933L,Missense_F933L exm1613989 22 42608574 [T/C] NM_181492,NM_005650 TCF20,TCF20 EXON Missense_G913D,Missense_G913D exm1614011 22 42609148 [T/C] NM_181492,NM_005650 TCF20,TCF20 EXON Missense_S722G,Missense_S722G exm2014102 22 42609163 [T/C] NM_181492,NM_005650 TCF20,TCF20 EXON Missense_V717M,Missense_V717M exm1614029 22 42609466 [A/G] NM_181492,NM_005650 TCF20,TCF20 EXON Missense_R616W,Missense_R616W exm1614054 22 42610096 [T/C] NM_181492,NM_005650 TCF20,TCF20 EXON Missense_G406S,Missense_G406S exm1614055 22 42610099 [T/C] NM_181492,NM_005650 TCF20,TCF20 EXON Missense_M405V,Missense_M405V exm1614060 22 42610283 [T/G] NM_181492,NM_005650 TCF20,TCF20 EXON Missense_Q343H,Missense_Q343H exm1614072 22 42610599 [G/C] NM_181492,NM_005650 TCF20,TCF20 EXON Missense_S238C,Missense_S238C exm1614100 22 42611115 [A/G] NM_181492,NM_005650 TCF20,TCF20 EXON Missense_A66V,Missense_A66V exm1614101 22 42611121 [A/G] NM_181492,NM_005650 TCF20,TCF20 EXON Missense_A64V,Missense_A64V exm1614110 22 42611239 [A/C] NM_181492,NM_005650 TCF20,TCF20 EXON Missense_S25A,Missense_S25A exm1614112 22 42611265 [G/C] NM_181492,NM_005650 TCF20,TCF20 EXON Missense_S16T,Missense_S16T exm1614119 22 42781198 [G/C] NM_145912 NFAM1 EXON Missense_G261A exm1614132 22 42783063 [T/C] NM_145912 NFAM1 EXON Missense_E229K exm1614135 22 42783075 [A/G] NM_145912 NFAM1 EXON Missense_R225C exm1614146 22 42805444 [C/G] NM_145912 NFAM1 EXON Missense_N187K exm1614158 22 42807455 [A/G] NM_145912 NFAM1 EXON Missense_H137Y exm1614177 22 42828276 [T/C] NM_145912 NFAM1 EXON Missense_V30M exm2235822 22 42828344 [T/C] NM_145912 NFAM1 EXON Missense_R7K exm1614218 22 42908938 [T/G] NM_015703 RRP7A EXON Missense_Q274P exm1614230 22 42910142 [T/C] NM_015703 RRP7A EXON Missense_A243T exm1614253 22 42912021 [A/G] NM_015703 RRP7A EXON Missense_V113A exm1614257 22 42912097 [T/C] NM_015703 RRP7A EXON Missense_V88I exm1614258 22 42912106 [T/C] NM_015703 RRP7A EXON Missense_V85I exm1614261 22 42912136 [T/G] NM_015703 RRP7A EXON Missense_L75M exm1614263 22 42914033 [T/C] NM_015703 RRP7A EXON Missense_N65S exm2276772 22 42950033 [A/G] NM_014509 SERHL2 EXON Missense_E3K exm1614295 22 42956211 [T/C] NM_014509 SERHL2 EXON Missense_H185Y exm1614297 22 42956229 [A/G] NM_014509 SERHL2 EXON Missense_G191R exm1614300 22 42956273 [T/A] NM_014509 SERHL2 Silent exm1614327 22 42968465 [A/C] NM_014509 SERHL2 EXON Nonsense_S252X exm1614370 22 42981840 [A/G] NM_032311,NM_178136 POLDIP3,POLDIP3 EXON Missense_A408V,Missense_A379V exm1614375 22 42981961 [T/A] NM_032311,NM_178136 POLDIP3,POLDIP3 EXON Missense_S368C,Missense_S339C exm2235824 22 42992344 [T/C] NM_032311,NM_178136 POLDIP3,POLDIP3 EXON Missense_M221V,Missense_M192V exm1614397 22 42995724 [T/C] NM_032311,NM_178136 POLDIP3,POLDIP3 EXON Missense_G205S,Missense_G176S exm1614402 22 42997995 [T/C] NM_032311,NM_178136 POLDIP3,POLDIP3 EXON Missense_N173S,Silent exm1614403 22 42998007 [A/G] NM_032311,NM_178136 POLDIP3,POLDIP3 EXON Missense_I169T,Silent exm1614404 22 42998012 [T/C] NM_032311,NM_178136 POLDIP3,POLDIP3 EXON Missense_M167I,Silent exm1614405 22 42998017 [T/C] NM_032311,NM_178136 POLDIP3,POLDIP3 EXON Missense_G166R,Silent exm1614426 22 43010817 [A/G] NM_032311,NM_178136 POLDIP3,POLDIP3 EXON Missense_A16V,Missense_A16V exm1614427 22 43010821 [T/C] NM_032311,NM_178136 POLDIP3,POLDIP3 EXON Missense_A15T,Missense_A15T exm1614434 22 43015787 [T/C] NM_001171661,NM_000398,NM_007326,NM_001171660,NM_001129819 CYB5R3,CYB5R3,CYB5R3,CYB5R3,CYB5R3 EXON Missense_V277I,Missense_V300I,Missense_V277I,Missense_V333I,Missense_V277I exm1614435 22 43015795 [T/C] NM_001171661,NM_000398,NM_007326,NM_001171660,NM_001129819 CYB5R3,CYB5R3,CYB5R3,CYB5R3,CYB5R3 EXON Missense_R274H,Missense_R297H,Missense_R274H,Missense_R330H,Missense_R274H exm1614447 22 43019809 [T/C] NM_001171661,NM_000398,NM_007326,NM_001171660,NM_001129819 CYB5R3,CYB5R3,CYB5R3,CYB5R3,CYB5R3 EXON Missense_D217G,Missense_D240G,Missense_D217G,Missense_D273G,Missense_D217G exm1614450 22 43019891 [T/C] NM_001171661,NM_000398,NM_007326,NM_001171660,NM_001129819 CYB5R3,CYB5R3,CYB5R3,CYB5R3,CYB5R3 EXON Missense_E190K,Missense_E213K,Missense_E190K,Missense_E246K,Missense_E190K exm1614469 22 43024271 [G/C] NM_001171661,NM_000398,NM_007326,NM_001171660,NM_001129819 CYB5R3,CYB5R3,CYB5R3,CYB5R3,CYB5R3 EXON Missense_T94S,Missense_T117S,Missense_T94S,Missense_T150S,Missense_T94S exm1614483 22 43032725 [T/C] NM_001171661,NM_000398,NM_007326,NM_001171660,NM_001129819 CYB5R3,CYB5R3,CYB5R3,CYB5R3,CYB5R3 EXON Missense_R27Q,Missense_R50Q,Missense_R27Q,Missense_R83Q,Missense_R27Q exm1614484 22 43032729 [C/G] NM_001171661,NM_000398,NM_007326,NM_001171660,NM_001129819 CYB5R3,CYB5R3,CYB5R3,CYB5R3,CYB5R3 EXON Missense_D26H,Missense_D49H,Missense_D26H,Missense_D82H,Missense_D26H exm1614494 22 43032843 [T/C] NM_001171661,NM_000398,NM_007326,NM_001171660,NM_001129819 CYB5R3,CYB5R3,CYB5R3,CYB5R3,CYB5R3 EXON Silent,Missense_M11V,Silent,Missense_M44V,Silent exm1614514 22 43089044 [A/G] NM_017436 A4GALT EXON Missense_P305L exm1614533 22 43089464 [T/C] NM_017436 A4GALT EXON Missense_R165H exm1614541 22 43089591 [A/G] NM_017436 A4GALT EXON Missense_S123P exm2276773 22 43089753 [A/G] NM_017436 A4GALT EXON Missense_P69S exm1614554 22 43089833 [A/G] NM_017436 A4GALT EXON Missense_V42A exm1614555 22 43089844 [G/C] NM_017436 A4GALT EXON Missense_I38M exm1614556 22 43089849 [T/C] NM_017436 A4GALT EXON Missense_M37V exm2273065 22 43155392 [T/C] exm1614574 22 43195045 [G/C] NM_014570,NM_001142293 ARFGAP3,ARFGAP3 EXON Missense_Q511H,Missense_Q467H exm1614579 22 43195109 [T/C] NM_014570,NM_001142293 ARFGAP3,ARFGAP3 EXON Missense_Q490R,Missense_Q446R exm1614581 22 43195114 [G/C] NM_014570,NM_001142293 ARFGAP3,ARFGAP3 EXON Missense_F488L,Missense_F444L exm1614590 22 43203086 [A/C] NM_014570,NM_001142293 ARFGAP3,ARFGAP3 EXON Missense_Q468H,Missense_Q424H exm1614595 22 43204801 [A/G] NM_014570,NM_001142293 ARFGAP3,ARFGAP3 EXON Missense_M431T,Missense_M387T exm1614600 22 43204882 [T/C] NM_014570,NM_001142293 ARFGAP3,ARFGAP3 EXON Missense_R404H,Missense_R360H exm1614607 22 43206882 [T/C] NM_014570,NM_001142293 ARFGAP3,ARFGAP3 EXON Missense_Y378C,Missense_Y334C exm1614609 22 43206950 [A/C] NM_014570,NM_001142293 ARFGAP3,ARFGAP3 EXON Missense_S355R,Missense_S311R exm1614616 22 43213187 [T/C] NM_014570,NM_001142293 ARFGAP3,ARFGAP3 EXON Missense_N342S,Missense_N298S exm1614621 22 43213262 [A/G] NM_014570,NM_001142293 ARFGAP3,ARFGAP3 EXON Missense_S317L,Missense_S273L exm1614623 22 43213266 [A/T] NM_014570,NM_001142293 ARFGAP3,ARFGAP3 EXON Missense_I316F,Missense_I272F exm1614632 22 43213808 [T/C] NM_014570,NM_001142293 ARFGAP3,ARFGAP3 EXON Missense_E290K,Missense_E246K exm1614635 22 43218276 [A/G] NM_014570,NM_001142293 ARFGAP3,ARFGAP3 EXON Missense_I271T,Missense_I227T exm1614640 22 43218397 [T/C] NM_014570,NM_001142293 ARFGAP3,ARFGAP3 EXON Missense_S231G,Missense_S187G exm1614641 22 43218411 [A/C] NM_014570,NM_001142293 ARFGAP3,ARFGAP3 EXON Missense_G226V,Missense_G182V exm1614650 22 43227561 [T/C] NM_014570,NM_001142293 ARFGAP3,ARFGAP3 EXON Missense_N187D,Missense_N143D exm1614653 22 43227602 [T/G] NM_014570,NM_001142293 ARFGAP3,ARFGAP3 EXON Missense_S173Y,Missense_S129Y exm1614659 22 43231385 [A/G] NM_014570,NM_001142293 ARFGAP3,ARFGAP3 EXON Missense_R126W,Silent exm1614715 22 43275082 [T/C] NM_001184971,NM_001184970,NM_007229 PACSIN2,PACSIN2,PACSIN2 EXON Missense_D334N,Missense_D334N,Missense_D334N exm1614717 22 43275112 [T/C] NM_001184971,NM_001184970,NM_007229 PACSIN2,PACSIN2,PACSIN2 EXON Missense_V324I,Missense_V324I,Missense_V324I exm1614734 22 43280404 [T/G] NM_001184971,NM_001184970,NM_007229 PACSIN2,PACSIN2,PACSIN2 EXON Missense_S258Y,Missense_S258Y,Missense_S258Y exm1614744 22 43284734 [T/C] NM_001184971,NM_001184970,NM_007229 PACSIN2,PACSIN2,PACSIN2 EXON Missense_N175S,Missense_N175S,Missense_N175S exm1614754 22 43287153 [T/C] NM_001184971,NM_001184970,NM_007229 PACSIN2,PACSIN2,PACSIN2 EXON Missense_A85T,Missense_A85T,Missense_A85T exm-rs11090122 22 43308475 [T/C] NM_001184971,NM_001184970,NM_007229 PACSIN2,PACSIN2,PACSIN2 Silent,Silent,Silent exm2268423 22 43432826 [A/G] exm1614777 22 43435822 [T/G] NR_027779,NM_012263 TTLL1,TTLL1 EXON Silent,Nonsense_S411X exm1614810 22 43455457 [T/C] NR_027779,NM_012263 TTLL1,TTLL1 EXON Silent,Missense_K275R exm2275263 22 43464416 [A/G] NR_027779,NM_012263 TTLL1,TTLL1 EXON Silent,Missense_S168L exm1614841 22 43464591 [T/C] NR_027779,NM_012263 TTLL1,TTLL1 EXON Silent,Missense_V110I exm1614855 22 43471508 [T/C] NR_027779,NM_012263 TTLL1,TTLL1 EXON Silent,Missense_T29A exm1614857 22 43471583 [T/C] NR_027779,NM_012263 TTLL1,TTLL1 EXON Silent,Missense_K4E exm-rs5759167 22 43500212 [T/G] exm-rs742134 22 43518275 [A/G] NM_001197 BIK Silent exm1614860 22 43520105 [T/C] NM_001197 BIK EXON Missense_T26I exm1614863 22 43520152 [A/C] NM_001197 BIK EXON Missense_M42L exm1614880 22 43524582 [T/C] NM_001197 BIK EXON Missense_L114P exm2014619 22 43524587 [A/G] NM_001197 BIK EXON Missense_E116K exm1614883 22 43524615 [T/C] NM_001197 BIK EXON Missense_P125L exm1614891 22 43525243 [C/G] NM_001197 BIK EXON Missense_A139P exm1614893 22 43525256 [T/C] NM_001197 BIK EXON Missense_L143P exm1614909 22 43529061 [A/C] NM_173467,NR_046423,NM_014507 MCAT,MCAT,MCAT EXON Missense_E387D,Silent,Silent exm1614910 22 43529094 [G/C] NM_173467,NR_046423,NM_014507 MCAT,MCAT,MCAT EXON Missense_Q376H,Silent,Silent exm1614913 22 43529111 [T/C] NM_173467,NR_046423,NM_014507 MCAT,MCAT,MCAT EXON Missense_A371T,Silent,Silent exm1614916 22 43529138 [T/C] NM_173467,NR_046423,NM_014507 MCAT,MCAT,MCAT EXON Missense_N362D,Silent,Silent exm1614928 22 43529314 [C/G] NM_173467,NR_046423,NM_014507 MCAT,MCAT,MCAT EXON Missense_A303G,Silent,Silent exm1614931 22 43529323 [T/C] NM_173467,NR_046423,NM_014507 MCAT,MCAT,MCAT EXON Missense_N300S,Silent,Silent exm1614944 22 43533130 [T/C] NM_173467,NR_046423,NM_014507 MCAT,MCAT,MCAT EXON Missense_N229S,Silent,Silent exm1614954 22 43533221 [A/G] NM_173467,NR_046423,NM_014507 MCAT,MCAT,MCAT EXON Nonsense_Q199X,Silent,Silent exm1614956 22 43533284 [A/G] NM_173467,NR_046423,NM_014507 MCAT,MCAT,MCAT EXON Nonsense_R178X,Silent,Silent exm1614995 22 43557156 [T/C] NM_000714,NR_046308,NM_001256531,NM_001256530 TSPO,TSPO,TSPO,TSPO EXON Missense_A94V,Silent,Missense_A94V,Missense_A94V exm1614996 22 43557192 [T/G] NM_000714,NR_046308,NM_001256531,NM_001256530 TSPO,TSPO,TSPO,TSPO EXON Missense_G106V,Silent,Missense_G106V,Missense_G106V exm1615002 22 43558910 [A/G] NM_000714,NR_046308,NM_001256531,NM_001256530 TSPO,TSPO,TSPO,TSPO EXON Synonymous_L141L,Silent,Synonymous_L141L,Synonymous_L141L exm1615003 22 43558926 [A/G] NM_000714,NR_046308,NM_001256531,NM_001256530 TSPO,TSPO,TSPO,TSPO EXON Missense_T147A,Silent,Missense_T147A,Missense_T147A exm1615007 22 43558972 [A/G] NM_000714,NR_046308,NM_001256531,NM_001256530 TSPO,TSPO,TSPO,TSPO EXON Missense_R162H,Silent,Missense_R162H,Missense_R162H exm1615009 22 43558999 [T/G] NM_000714,NR_046308,NM_001256531,NM_001256530 TSPO,TSPO,TSPO,TSPO EXON Silent,Silent,Silent,Silent exm1615012 22 43559067 [T/C] NM_000714,NR_046308,NM_001256531,NM_001256530 TSPO,TSPO,TSPO,TSPO EXON Silent,Silent,Silent,Silent exm1615025 22 43564050 [G/C] NM_015140 TTLL12 EXON Missense_D633E exm1615031 22 43564108 [T/C] NM_015140 TTLL12 EXON Missense_R614Q exm1615034 22 43564159 [T/C] NM_015140 TTLL12 EXON Missense_R597Q exm1615041 22 43564846 [T/C] NM_015140 TTLL12 EXON Missense_D573N exm1615056 22 43565524 [A/C] NM_015140 TTLL12 EXON Missense_F542L exm1615057 22 43565550 [T/C] NM_015140 TTLL12 EXON Missense_E534K exm1615072 22 43568410 [G/C] NM_015140 TTLL12 EXON Missense_R498G exm1615074 22 43568439 [T/C] NM_015140 TTLL12 EXON Missense_Y488C exm2014665 22 43568494 [T/C] NM_015140 TTLL12 EXON Missense_D470N exm1615078 22 43568512 [T/C] NM_015140 TTLL12 EXON Missense_V464M exm1615080 22 43568520 [T/C] NM_015140 TTLL12 EXON Missense_R461Q exm1615087 22 43569789 [A/G] NM_015140 TTLL12 EXON Missense_R425C exm1615089 22 43569814 [T/C] NM_015140 TTLL12 EXON Nonsense_W416X exm1615115 22 43570583 [A/G] NM_015140 TTLL12 EXON Missense_T319I exm1615127 22 43572354 [T/C] NM_015140 TTLL12 EXON Missense_V297M exm1615132 22 43572378 [T/G] NM_015140 TTLL12 EXON Missense_K289Q exm1615133 22 43572402 [T/C] NM_015140 TTLL12 EXON Missense_A281T exm1615143 22 43575666 [A/G] NM_015140 TTLL12 EXON Missense_L267F exm1615148 22 43575926 [T/G] NM_015140 TTLL12 EXON Missense_F209L exm1615156 22 43576006 [T/C] NM_015140 TTLL12 EXON Missense_T183A exm1615160 22 43576863 [T/C] NM_015140 TTLL12 EXON Missense_R144H exm1615174 22 43579049 [T/C] NM_015140 TTLL12 EXON Missense_N95S exm1615176 22 43579055 [A/G] NM_015140 TTLL12 EXON Missense_P93L exm1615223 22 43606181 [T/C] NM_173050 SCUBE1 EXON Missense_D817N exm1615233 22 43606960 [A/G] NM_173050 SCUBE1 EXON Missense_F784S exm1615234 22 43606987 [A/G] NM_173050 SCUBE1 EXON Missense_T775I exm1615240 22 43607038 [T/C] NM_173050 SCUBE1 EXON Missense_R758H exm1615251 22 43608515 [T/C] NM_173050 SCUBE1 EXON Missense_G713R exm1615263 22 43610131 [T/C] NM_173050 SCUBE1 EXON Missense_G673D exm1615264 22 43610138 [T/C] NM_173050 SCUBE1 EXON Missense_G671R exm2014728 22 43610141 [T/C] NM_173050 SCUBE1 EXON Missense_D670N exm1615270 22 43610187 [A/G] NM_173050 SCUBE1 EXON Synonymous_Y654Y exm1615271 22 43610201 [T/C] NM_173050 SCUBE1 EXON Missense_M650V exm1615283 22 43614381 [A/G] NM_173050 SCUBE1 EXON Missense_R591W exm1615284 22 43614440 [T/C] NM_173050 SCUBE1 EXON Missense_R571Q exm1615285 22 43614443 [A/G] NM_173050 SCUBE1 EXON Missense_L570S exm1615290 22 43616533 [A/C] NM_173050 SCUBE1 EXON Missense_G537V exm1615302 22 43617229 [T/C] NM_173050 SCUBE1 EXON Missense_R500Q exm1615306 22 43618659 [T/C] NM_173050 SCUBE1 EXON Missense_G473R exm1615307 22 43618669 [C/G] NM_173050 SCUBE1 EXON Missense_S469R exm1615310 22 43618695 [A/C] NM_173050 SCUBE1 EXON Missense_A461S exm1615321 22 43619126 [A/G] NM_173050 SCUBE1 EXON Missense_P435L exm1615322 22 43619183 [T/C] NM_173050 SCUBE1 EXON Missense_R416Q exm2014748 22 43623418 [G/C] NM_173050 SCUBE1 EXON Missense_P390R exm1615367 22 43654225 [T/C] NM_173050 SCUBE1 EXON Missense_E243K exm1615369 22 43654233 [A/G] NM_173050 SCUBE1 EXON Missense_T240M exm1615371 22 43654240 [T/C] NM_173050 SCUBE1 EXON Missense_G238S exm1615375 22 43654278 [A/G] NM_173050 SCUBE1 EXON Missense_T225M exm1615377 22 43658754 [T/G] NM_173050 SCUBE1 EXON Missense_D194E exm1615386 22 43687171 [T/C] NM_173050 SCUBE1 EXON Missense_Q122R exm2255236 22 43714716 [A/G] NM_173050 SCUBE1 Silent exm1615399 22 43735185 [T/C] NM_173050 SCUBE1 EXON Missense_I49V exm1615423 22 43831058 [C/G] NM_001044370 MPPED1 EXON Missense_G110A exm2273066 22 43843065 [T/C] NM_001044370 MPPED1 Silent exm2014799 22 43924749 [T/C] NR_046563,NM_022785,NM_198856 EFCAB6-AS1,EFCAB6,EFCAB6 EXON Silent,Missense_R1497Q,Missense_R1345Q exm1615452 22 43924750 [A/G] NR_046563,NM_022785,NM_198856 EFCAB6-AS1,EFCAB6,EFCAB6 EXON Silent,Missense_R1497W,Missense_R1345W exm1615461 22 43926708 [A/G] NR_046563,NM_022785,NM_198856 EFCAB6-AS1,EFCAB6,EFCAB6 EXON Silent,Missense_A1457V,Missense_A1305V exm1615463 22 43926715 [T/G] NR_046563,NM_022785,NM_198856 EFCAB6-AS1,EFCAB6,EFCAB6 EXON Silent,Missense_S1455R,Missense_S1303R exm2014803 22 43926729 [A/C] NR_046563,NM_022785,NM_198856 EFCAB6-AS1,EFCAB6,EFCAB6 EXON Silent,Missense_G1450V,Missense_G1298V exm2014804 22 43926741 [T/C] NR_046563,NM_022785,NM_198856 EFCAB6-AS1,EFCAB6,EFCAB6 EXON Silent,Missense_Y1446C,Missense_Y1294C exm1615468 22 43926798 [T/C] NR_046563,NM_022785,NM_198856 EFCAB6-AS1,EFCAB6,EFCAB6 EXON Silent,Missense_R1427H,Missense_R1275H exm1615477 22 43930707 [T/C] NR_046563,NM_022785,NM_198856 EFCAB6-AS1,EFCAB6,EFCAB6 EXON Silent,Missense_Q1365R,Missense_Q1213R exm1615480 22 43930724 [T/C] NR_046563,NM_022785,NM_198856 EFCAB6-AS1,EFCAB6,EFCAB6 EXON Silent,Missense_I1359M,Missense_I1207M exm-IND22-42264617 22 43933285 [I/D] NM_022785,NM_198856 EFCAB6,EFCAB6 EXON exm1615486 22 43933296 [T/C] NM_022785,NM_198856 EFCAB6,EFCAB6 EXON Missense_V1337M,Missense_V1185M exm1615487 22 43933329 [A/G] NM_022785,NM_198856 EFCAB6,EFCAB6 EXON Missense_R1326C,Missense_R1174C exm1615489 22 43933357 [A/C] NM_022785,NM_198856 EFCAB6,EFCAB6 EXON Missense_R1316S,Missense_R1164S exm1615497 22 43936117 [T/C] NM_022785,NM_198856 EFCAB6,EFCAB6 EXON Missense_V1257M,Missense_V1105M exm1615500 22 43936207 [A/T] NM_022785,NM_198856 EFCAB6,EFCAB6 EXON Missense_N1227Y,Missense_N1075Y exm1615501 22 43936219 [T/C] NM_022785,NM_198856 EFCAB6,EFCAB6 EXON Missense_E1223K,Missense_E1071K exm1615502 22 43936229 [T/G] NM_022785,NM_198856 EFCAB6,EFCAB6 EXON Missense_R1219S,Missense_R1067S exm1615509 22 43950759 [A/G] NM_022785,NM_198856 EFCAB6,EFCAB6 EXON Missense_T1213M,Missense_T1061M exm1615511 22 43950777 [T/C] NM_022785,NM_198856 EFCAB6,EFCAB6 EXON Missense_R1207H,Missense_R1055H exm2014827 22 43950819 [A/G] NM_022785,NM_198856 EFCAB6,EFCAB6 EXON Missense_T1193M,Missense_T1041M exm1615513 22 43950853 [T/G] NM_022785,NM_198856 EFCAB6,EFCAB6 EXON Missense_T1182P,Missense_T1030P exm1615514 22 43950891 [T/C] NM_022785,NM_198856 EFCAB6,EFCAB6 EXON Missense_R1169H,Missense_R1017H exm1615516 22 43950906 [C/G] NM_022785,NM_198856 EFCAB6,EFCAB6 EXON Missense_R1164T,Missense_R1012T exm1615520 22 43950949 [A/G] NM_022785,NM_198856 EFCAB6,EFCAB6 EXON Missense_P1150S,Missense_P998S exm1615528 22 43972363 [A/C] NM_022785,NM_198856 EFCAB6,EFCAB6 EXON Missense_F1078L,Missense_F926L exm1615532 22 43976396 [A/G] NM_022785,NM_198856 EFCAB6,EFCAB6 EXON Missense_A1059V,Missense_A907V exm1615533 22 43976414 [A/G] NM_022785,NM_198856 EFCAB6,EFCAB6 EXON Missense_T1053M,Missense_T901M exm1615534 22 43976423 [T/C] NM_022785,NM_198856 EFCAB6,EFCAB6 EXON Missense_N1050S,Missense_N898S exm1615568 22 44004465 [T/C] NM_022785,NM_198856 EFCAB6,EFCAB6 EXON Missense_D860N,Missense_D708N exm1615574 22 44022345 [A/G] NM_022785,NM_198856 EFCAB6,EFCAB6 EXON Missense_A816V,Missense_A664V exm1615575 22 44022394 [A/G] NM_022785,NM_198856 EFCAB6,EFCAB6 EXON Missense_R800W,Missense_R648W exm1615579 22 44022454 [T/C] NM_022785,NM_198856 EFCAB6,EFCAB6 EXON Missense_D780N,Missense_D628N exm1615582 22 44022520 [T/C] NM_022785,NM_198856 EFCAB6,EFCAB6 EXON Missense_D758N,Missense_D606N exm1615587 22 44028056 [A/C] NM_022785,NM_198856 EFCAB6,EFCAB6 EXON Missense_V721L,Missense_V569L exm1615589 22 44028074 [T/G] NM_022785,NM_198856 EFCAB6,EFCAB6 EXON Missense_T715P,Missense_T563P exm1615593 22 44028088 [A/G] NM_022785,NM_198856 EFCAB6,EFCAB6 EXON Missense_P710L,Missense_P558L exm1615594 22 44028096 [T/G] NM_022785,NM_198856 EFCAB6,EFCAB6 EXON Missense_E707D,Missense_E555D exm1615595 22 44028100 [A/G] NM_022785,NM_198856 EFCAB6,EFCAB6 EXON Missense_P706L,Missense_P554L exm1615600 22 44031027 [T/C] NM_022785,NM_198856 EFCAB6,EFCAB6 EXON Missense_E685K,Missense_E533K exm1615601 22 44031042 [T/C] NM_022785,NM_198856 EFCAB6,EFCAB6 EXON Missense_T680A,Missense_T528A exm1615603 22 44031070 [T/C] NM_022785,NM_198856 EFCAB6,EFCAB6 EXON Missense_M670I,Missense_M518I exm1615604 22 44031075 [A/G] NM_022785,NM_198856 EFCAB6,EFCAB6 EXON Missense_P669S,Missense_P517S exm1615611 22 44063042 [T/C] NM_022785,NM_198856 EFCAB6,EFCAB6 EXON Missense_R642Q,Missense_R490Q exm1615613 22 44063048 [T/C] NM_022785,NM_198856 EFCAB6,EFCAB6 EXON Missense_K640R,Missense_K488R exm1615621 22 44064803 [A/T] NM_022785,NM_198856 EFCAB6,EFCAB6 EXON Nonsense_L588X,Nonsense_L436X exm1615623 22 44064859 [T/C] NM_022785,NM_198856 EFCAB6,EFCAB6 EXON Missense_I569M,Missense_I417M exm1615624 22 44064909 [G/C] NM_022785,NM_198856 EFCAB6,EFCAB6 EXON Missense_Q553E,Missense_Q401E exm1615627 22 44067871 [A/G] NM_022785,NM_198856 EFCAB6,EFCAB6 EXON Missense_T541M,Missense_T389M exm1615630 22 44067926 [A/G] NM_022785,NM_198856 EFCAB6,EFCAB6 EXON Missense_R523C,Missense_R371C exm1615644 22 44073970 [T/G] NM_022785,NM_198856 EFCAB6,EFCAB6 EXON Nonsense_S442X,Nonsense_S290X exm1615646 22 44073983 [T/C] NM_022785,NM_198856 EFCAB6,EFCAB6 EXON Missense_K438E,Missense_K286E exm1615647 22 44074021 [A/C] NM_022785,NM_198856 EFCAB6,EFCAB6 EXON Missense_R425I,Missense_R273I exm1615654 22 44079680 [A/G] NM_022785,NM_198856 EFCAB6,EFCAB6 EXON Missense_H400Y,Missense_H248Y exm1615656 22 44079728 [A/C] NM_022785,NM_198856 EFCAB6,EFCAB6 EXON Missense_S384A,Missense_S232A exm1615660 22 44083357 [T/C] NM_022785,NM_198856 EFCAB6,EFCAB6 EXON Missense_R379K,Missense_R227K exm1615665 22 44083442 [T/C] NM_022785,NM_198856 EFCAB6,EFCAB6 EXON Missense_T351A,Missense_T199A exm2275208 22 44107407 [T/C] NM_022785,NM_198856 EFCAB6,EFCAB6 EXON Missense_D327N,Missense_D175N exm1615679 22 44112807 [T/C] NM_022785,NM_198856 EFCAB6,EFCAB6 EXON Missense_R268H,Missense_R116H exm1615683 22 44112846 [A/G] NM_022785,NM_198856 EFCAB6,EFCAB6 EXON Missense_S255L,Missense_S103L exm1615688 22 44127629 [T/G] NM_022785,NM_198856 EFCAB6,EFCAB6 EXON Missense_N236T,Missense_N84T exm2014897 22 44127659 [T/G] NM_022785,NM_198856 EFCAB6,EFCAB6 EXON Missense_T226N,Missense_T74N exm1615695 22 44131786 [T/C] NM_022785,NM_198856 EFCAB6,EFCAB6 EXON Missense_R199G,Missense_R47G exm1615698 22 44131803 [T/C] NM_022785,NM_198856 EFCAB6,EFCAB6 EXON Missense_R193Q,Missense_R41Q exm1615701 22 44151656 [A/G] NM_022785,NM_198856 EFCAB6,EFCAB6 EXON Missense_V166A,Missense_V14A exm1615708 22 44161261 [T/A] NM_022785,NM_198856 EFCAB6,EFCAB6 EXON Missense_T122S,Silent exm-rs16990991 22 44167684 [A/G] NM_022785,NM_198856 EFCAB6,EFCAB6 Silent,Silent exm1615712 22 44168845 [T/C] NM_022785,NM_198856 EFCAB6,EFCAB6 EXON Missense_S93N,Silent exm1615787 22 44277512 [C/G] NM_138814,NM_001177675 PNPLA5,PNPLA5 EXON Missense_W375C,Missense_W261C exm1615795 22 44280184 [C/G] NM_138814,NM_001177675 PNPLA5,PNPLA5 EXON Missense_R331G,Missense_R217G exm1615798 22 44280193 [A/G] NM_138814,NM_001177675 PNPLA5,PNPLA5 EXON Missense_R328W,Missense_R214W exm1615799 22 44280207 [A/G] NM_138814,NM_001177675 PNPLA5,PNPLA5 EXON Missense_T323M,Missense_T209M exm1615800 22 44280225 [A/G] NM_138814,NM_001177675 PNPLA5,PNPLA5 EXON Missense_A317V,Missense_A203V exm1615803 22 44282276 [A/G] NM_138814,NM_001177675 PNPLA5,PNPLA5 EXON Missense_W286R,Missense_W172R exm1615809 22 44282368 [A/C] NM_138814,NM_001177675 PNPLA5,PNPLA5 EXON Missense_G255V,Missense_G141V exm1615810 22 44282369 [T/C] NM_138814,NM_001177675 PNPLA5,PNPLA5 Silent,Silent exm1615816 22 44285258 [A/G] NM_138814,NM_001177675 PNPLA5,PNPLA5 EXON Missense_T218I,Missense_T104I exm1615819 22 44285312 [A/G] NM_138814,NM_001177675 PNPLA5,PNPLA5 EXON Missense_T200I,Missense_T86I exm1615829 22 44285418 [A/G] NM_138814,NM_001177675 PNPLA5,PNPLA5 EXON Missense_R165C,Silent exm1615838 22 44285723 [A/G] NM_138814,NM_001177675 PNPLA5,PNPLA5 EXON Missense_F150L,Silent exm1615844 22 44286950 [A/G] NM_138814,NM_001177675 PNPLA5,PNPLA5 EXON Missense_L140F,Silent exm1615845 22 44286956 [T/C] NM_138814,NM_001177675 PNPLA5,PNPLA5 EXON Missense_D138N,Silent exm2014958 22 44286992 [A/C] NM_138814,NM_001177675 PNPLA5,PNPLA5 EXON Nonsense_G126X,Silent exm1615849 22 44287073 [A/G] NM_138814,NM_001177675 PNPLA5,PNPLA5 EXON Nonsense_Q99X,Silent exm1615852 22 44287109 [T/G] NM_138814,NM_001177675 PNPLA5,PNPLA5 EXON Missense_H87N,Silent exm1615856 22 44287165 [A/C] NM_138814,NM_001177675 PNPLA5,PNPLA5 EXON Missense_C68F,Silent exm1615867 22 44287759 [A/G] NM_138814,NM_001177675 PNPLA5,PNPLA5 EXON Missense_M1T,Missense_M1T exm1615876 22 44319936 [A/G] NM_025225 PNPLA3 EXON Missense_G49R exm1615884 22 44322922 [T/G] NM_025225 PNPLA3 EXON Missense_C99G exm1615889 22 44322970 [T/G] NM_025225 PNPLA3 EXON Missense_G115C exm1615904 22 44324727 [C/G] NM_025225 PNPLA3 EXON Missense_I148M exm1615906 22 44324767 [A/G] NM_025225 PNPLA3 EXON Missense_V162M exm1615912 22 44328798 [T/C] NM_025225 PNPLA3 EXON Missense_I176T exm1615914 22 44328828 [A/C] NM_025225 PNPLA3 EXON Missense_P186H exm1615918 22 44328917 [A/C] NM_025225 PNPLA3 EXON Missense_T216P exm1615919 22 44328930 [A/G] NM_025225 PNPLA3 EXON Missense_Y220C exm1615920 22 44328950 [A/G] NM_025225 PNPLA3 EXON Missense_V227I exm-rs2281135 22 44332570 [A/G] NM_025225 PNPLA3 Silent exm1615927 22 44332974 [A/C] NM_025225 PNPLA3 EXON Missense_E267D exm1615933 22 44333039 [T/C] NM_025225 PNPLA3 EXON Missense_S289L exm1615940 22 44333102 [T/G] NM_025225 PNPLA3 EXON Missense_L310R exm1615945 22 44335885 [A/G] NM_025225 PNPLA3 EXON Missense_E331G exm1615951 22 44340642 [C/G] NM_025225 PNPLA3 EXON Missense_T395S exm1615953 22 44342038 [A/C] NM_025225 PNPLA3 EXON Missense_Q408K exm1615955 22 44342069 [A/C] NM_025225 PNPLA3 EXON Missense_P418Q exm1615958 22 44342116 [A/G] NM_025225 PNPLA3 EXON Missense_K434E exm1615959 22 44342118 [C/G] NM_025225 PNPLA3 EXON Missense_K434N exm1615961 22 44342150 [T/C] NM_025225 PNPLA3 EXON Missense_T445I exm1615963 22 44342156 [A/G] NM_025225 PNPLA3 EXON Missense_R447Q exm1615965 22 44342174 [T/G] NM_025225 PNPLA3 EXON Missense_S453I exm1615977 22 44359215 [A/G] NM_015380 SAMM50 EXON Missense_E24G exm1615979 22 44360335 [A/G] NM_015380 SAMM50 EXON Missense_V46I exm1615985 22 44364635 [T/C] NM_015380 SAMM50 EXON Missense_R87C exm1615987 22 44364651 [A/G] NM_015380 SAMM50 EXON Missense_R92H exm1615988 22 44364695 [G/C] NM_015380 SAMM50 EXON Missense_Q107E exm1615990 22 44368122 [A/G] NM_015380 SAMM50 EXON Missense_D110G exm1615993 22 44368179 [T/C] NM_015380 SAMM50 EXON Missense_T129M exm1615994 22 44368196 [A/G] NM_015380 SAMM50 EXON Missense_M135V exm1616011 22 44371983 [T/C] NM_015380 SAMM50 EXON Nonsense_R233X exm2015050 22 44372652 [A/G] NM_015380 SAMM50 EXON Missense_R267Q exm1616032 22 44379838 [A/G] NM_015380 SAMM50 EXON Missense_I345V exm1616041 22 44385044 [G/C] NM_015380 SAMM50 EXON Missense_P377A exm1616049 22 44386199 [A/G] NM_015380 SAMM50 EXON Missense_Y426C exm2273041 22 44390568 [T/C] NM_015380 SAMM50 Silent exm1616068 22 44395434 [A/G] NM_001003828 PARVB EXON Missense_R31H exm1616070 22 44395451 [T/C] NM_001003828 PARVB EXON Missense_W37R exm1616071 22 44395452 [A/G] NM_001003828 PARVB EXON Nonsense_W37X exm2015083 22 44489850 [G/C] NM_001003828,NM_013327,NM_001243386,NM_001243385 PARVB,PARVB,PARVB,PARVB EXON Missense_P85R,Missense_P52R,Silent,Missense_P30R exm1616086 22 44489868 [T/C] NM_001003828,NM_013327,NM_001243386,NM_001243385 PARVB,PARVB,PARVB,PARVB EXON Missense_V91A,Missense_V58A,Missense_V6A,Missense_V36A exm1616088 22 44489896 [T/C] NM_001003828,NM_013327,NM_001243386,NM_001243385 PARVB,PARVB,PARVB,PARVB EXON Synonymous_L100L,Synonymous_L67L,Synonymous_L15L,Synonymous_L45L exm1616091 22 44495951 [C/G] NM_001003828,NM_013327,NM_001243386,NM_001243385 PARVB,PARVB,PARVB,PARVB EXON Missense_T107R,Missense_T74R,Missense_T22R,Missense_T52R exm1616093 22 44495953 [A/G] NM_001003828,NM_013327,NM_001243386,NM_001243385 PARVB,PARVB,PARVB,PARVB EXON Missense_M108V,Missense_M75V,Missense_M23V,Missense_M53V exm1616094 22 44495983 [A/G] NM_001003828,NM_013327,NM_001243386,NM_001243385 PARVB,PARVB,PARVB,PARVB EXON Missense_K118E,Missense_K85E,Missense_K33E,Missense_K63E exm1616115 22 44527414 [A/G] NM_001003828,NM_013327,NM_001243386,NM_001243385 PARVB,PARVB,PARVB,PARVB EXON Missense_E175K,Missense_E142K,Missense_E90K,Missense_E120K exm1616116 22 44527442 [T/C] NM_001003828,NM_013327,NM_001243386,NM_001243385 PARVB,PARVB,PARVB,PARVB EXON Missense_T184M,Missense_T151M,Missense_T99M,Missense_T129M exm1616118 22 44527489 [T/C] NM_001003828,NM_013327,NM_001243386,NM_001243385 PARVB,PARVB,PARVB,PARVB EXON Missense_L200F,Missense_L167F,Missense_L115F,Missense_L145F exm1616119 22 44527492 [T/C] NM_001003828,NM_013327,NM_001243386,NM_001243385 PARVB,PARVB,PARVB,PARVB EXON Missense_R201W,Missense_R168W,Missense_R116W,Missense_R146W exm1616135 22 44536003 [T/G] NM_001003828,NM_013327,NM_001243386,NM_001243385 PARVB,PARVB,PARVB,PARVB Silent,Silent,Silent,Silent exm2015100 22 44536017 [A/C] NM_001003828,NM_013327,NM_001243386,NM_001243385 PARVB,PARVB,PARVB,PARVB EXON Synonymous_R269R,Synonymous_R236R,Synonymous_R184R,Synonymous_R214R exm1616152 22 44547379 [T/C] NM_001003828,NM_013327,NM_001243386,NM_001243385 PARVB,PARVB,PARVB,PARVB EXON Missense_V297A,Missense_V264A,Silent,Missense_V242A exm1616155 22 44547418 [A/G] NM_001003828,NM_013327,NM_001243386,NM_001243385 PARVB,PARVB,PARVB,PARVB EXON Missense_E310G,Missense_E277G,Silent,Missense_E255G exm1616165 22 44559753 [T/A] NM_001003828,NM_013327,NM_001243386,NM_001243385 PARVB,PARVB,PARVB,PARVB EXON Missense_F354I,Missense_F321I,Missense_F246I,Missense_F299I exm1616169 22 44559783 [T/C] NM_001003828,NM_013327,NM_001243386,NM_001243385 PARVB,PARVB,PARVB,PARVB EXON Missense_L364F,Missense_L331F,Missense_L256F,Missense_L309F exm1616173 22 44564483 [T/C] NM_001003828,NM_013327,NM_001243386,NM_001243385 PARVB,PARVB,PARVB,PARVB EXON Synonymous_D373D,Synonymous_D340D,Synonymous_D265D,Synonymous_D318D exm1616187 22 44579253 [C/G] NM_001254742,NM_001137605,NM_001254741,NM_022141,NM_001254743,NM_001137606 PARVG,PARVG,PARVG,PARVG,PARVG,PARVG EXON Missense_G82A,Missense_G15A,Missense_G15A,Missense_G15A,Missense_G15A,Missense_G15A exm1616216 22 44585128 [A/G] NM_001137605,NM_022141,NM_001137606 PARVG,PARVG,PARVG EXON Missense_V128M,Missense_V128M,Missense_V128M exm1616220 22 44586484 [A/G] NM_001137605,NM_022141,NM_001137606 PARVG,PARVG,PARVG EXON Missense_K148E,Missense_K148E,Missense_K148E exm1616223 22 44586519 [A/C] NM_001137605,NM_022141,NM_001137606 PARVG,PARVG,PARVG EXON Missense_N159K,Missense_N159K,Missense_N159K exm1616245 22 44594535 [A/G] NM_001137605,NM_022141,NM_001137606 PARVG,PARVG,PARVG EXON Missense_G249E,Missense_G249E,Missense_G249E exm1616250 22 44601656 [T/C] NM_001137605,NM_022141,NM_001137606 PARVG,PARVG,PARVG EXON Missense_A278V,Missense_A278V,Missense_A278V exm1616262 22 44602262 [T/C] NM_001137605,NM_022141,NM_001137606 PARVG,PARVG,PARVG EXON Nonsense_Q318X,Nonsense_Q318X,Nonsense_Q318X exm1616263 22 44602281 [A/G] NM_001137605,NM_022141,NM_001137606 PARVG,PARVG,PARVG EXON Missense_R324K,Missense_R324K,Missense_R324K exm1616264 22 44602284 [T/C] NM_001137605,NM_022141,NM_001137606 PARVG,PARVG,PARVG EXON Missense_T325M,Missense_T325M,Missense_T325M exm2273589 22 44645332 [A/G] NM_001099294 KIAA1644 EXON Missense_A278V exm1616279 22 44681317 [A/G] NM_001099294 KIAA1644 EXON Missense_S197L exm1616305 22 44692612 [A/G] NM_001099294 KIAA1644 EXON Missense_T74M exm-rs1557553 22 44760984 [T/C] exm2261237 22 45038965 [A/G] exm1616384 22 45075720 [T/C] NM_001017529,NM_001017528,NM_001017530,NM_001198721,NM_015366 PRR5,PRR5,PRR5,PRR5,PRR5 EXON Silent,Silent,Silent,Missense_S14L,Silent exm1616385 22 45075738 [T/C] NM_001017529,NM_001017528,NM_001017530,NM_001198721,NM_015366 PRR5,PRR5,PRR5,PRR5,PRR5 EXON Silent,Silent,Silent,Missense_M20T,Silent exm1616386 22 45075741 [T/C] NM_001017529,NM_001017528,NM_001017530,NM_001198721,NM_015366 PRR5,PRR5,PRR5,PRR5,PRR5 EXON Silent,Silent,Silent,Missense_P21L,Silent exm1616404 22 45122490 [T/C] NM_001017529,NM_001017528,NM_001017530,NM_001198721,NM_015366,NM_181333,NM_181334 PRR5,PRR5,PRR5,PRR5,PRR5,PRR5,PRR5-ARHGAP8 EXON Missense_R5W,Missense_R91W,Missense_R5W,Missense_R123W,Missense_R91W,Missense_R100W,Missense_R91W exm1616415 22 45127649 [A/T] NM_001017529,NM_001017528,NM_001017530,NM_001198721,NM_015366,NM_181333,NM_181334 PRR5,PRR5,PRR5,PRR5,PRR5,PRR5,PRR5-ARHGAP8 EXON Missense_F26Y,Missense_F112Y,Missense_F26Y,Missense_F144Y,Missense_F112Y,Missense_F121Y,Silent exm2235855 22 45127663 [A/G] NM_001017529,NM_001017528,NM_001017530,NM_001198721,NM_015366,NM_181333,NM_181334 PRR5,PRR5,PRR5,PRR5,PRR5,PRR5,PRR5-ARHGAP8 EXON Missense_V31M,Missense_V117M,Missense_V31M,Missense_V149M,Missense_V117M,Missense_V126M,Silent exm1616427 22 45128218 [T/C] NM_001017529,NM_001017528,NM_001017530,NM_001198721,NM_015366,NM_181333,NM_181334 PRR5,PRR5,PRR5,PRR5,PRR5,PRR5,PRR5-ARHGAP8 EXON Missense_R73W,Missense_R159W,Missense_R73W,Missense_R191W,Missense_R159W,Missense_R168W,Silent exm1616440 22 45130947 [A/G] NM_001017529,NM_001017528,NM_001017530,NM_001198721,NM_015366,NM_181333,NM_181334 PRR5,PRR5,PRR5,PRR5,PRR5,PRR5,PRR5-ARHGAP8 EXON Missense_R104H,Missense_R190H,Missense_R104H,Missense_R222H,Missense_R190H,Missense_R199H,Silent exm1616445 22 45130997 [A/G] NM_001017529,NM_001017528,NM_001017530,NM_001198721,NM_015366,NM_181333,NM_181334 PRR5,PRR5,PRR5,PRR5,PRR5,PRR5,PRR5-ARHGAP8 EXON Missense_G121S,Missense_G207S,Missense_G121S,Missense_G239S,Missense_G207S,Missense_G216S,Silent exm1616451 22 45132658 [A/G] NM_001017529,NM_001017528,NM_001017530,NM_001198721,NM_015366,NM_181333,NM_181334 PRR5,PRR5,PRR5,PRR5,PRR5,PRR5,PRR5-ARHGAP8 EXON Missense_R138H,Missense_R224H,Missense_R138H,Missense_R256H,Missense_R224H,Missense_R233H,Silent exm1616457 22 45132687 [A/G] NM_001017529,NM_001017528,NM_001017530,NM_001198721,NM_015366,NM_181333,NM_181334 PRR5,PRR5,PRR5,PRR5,PRR5,PRR5,PRR5-ARHGAP8 EXON Missense_V148M,Missense_V234M,Missense_V148M,Missense_V266M,Missense_V234M,Missense_V243M,Silent exm1616468 22 45132831 [A/G] NM_001017529,NM_001017528,NM_001017530,NM_001198721,NM_015366,NM_181333,NM_181334 PRR5,PRR5,PRR5,PRR5,PRR5,PRR5,PRR5-ARHGAP8 EXON Missense_E196K,Missense_E282K,Missense_E196K,Missense_E314K,Missense_E282K,Missense_E291K,Silent exm1616471 22 45132849 [A/G] NM_001017529,NM_001017528,NM_001017530,NM_001198721,NM_015366,NM_181333,NM_181334 PRR5,PRR5,PRR5,PRR5,PRR5,PRR5,PRR5-ARHGAP8 EXON Missense_D202N,Missense_D288N,Missense_D202N,Missense_D320N,Missense_D288N,Missense_D297N,Silent exm1616477 22 45132985 [A/G] NM_001017529,NM_001017528,NM_001017530,NM_001198721,NM_015366,NM_181333,NM_181334 PRR5,PRR5,PRR5,PRR5,PRR5,PRR5,PRR5-ARHGAP8 EXON Missense_R247H,Missense_R333H,Missense_R247H,Missense_R365H,Missense_R333H,Missense_R342H,Silent exm1616479 22 45133033 [C/G] NM_001017529,NM_001017528,NM_001017530,NM_001198721,NM_015366,NM_181333,NM_181334 PRR5,PRR5,PRR5,PRR5,PRR5,PRR5,PRR5-ARHGAP8 EXON Missense_S263W,Missense_S349W,Missense_S263W,Missense_S381W,Missense_S349W,Missense_S358W,Silent exm1616484 22 45133111 [A/G] NM_001017529,NM_001017528,NM_001017530,NM_001198721,NM_015366,NM_181333,NM_181334 PRR5,PRR5,PRR5,PRR5,PRR5,PRR5,PRR5-ARHGAP8 EXON Missense_R289Q,Missense_R375Q,Missense_R289Q,Missense_R407Q,Missense_R375Q,Missense_R384Q,Silent exm2273042 22 45150659 [T/C] NM_181334,NM_001017526,NM_001198726,NM_181335 PRR5-ARHGAP8,ARHGAP8,ARHGAP8,ARHGAP8 Silent,Silent,Silent,Silent exm1616489 22 45182361 [T/C] NM_181334,NM_001017526,NM_001198726,NM_181335 PRR5-ARHGAP8,ARHGAP8,ARHGAP8,ARHGAP8 EXON Missense_A107V,Silent,Silent,Silent exm1616495 22 45182427 [T/C] NM_181334,NM_001017526,NM_001198726,NM_181335 PRR5-ARHGAP8,ARHGAP8,ARHGAP8,ARHGAP8 EXON Missense_A129V,Missense_A7V,Missense_A7V,Missense_A7V exm1616499 22 45182453 [A/G] NM_181334,NM_001017526,NM_001198726,NM_181335 PRR5-ARHGAP8,ARHGAP8,ARHGAP8,ARHGAP8 EXON Missense_D138N,Missense_D16N,Missense_D16N,Missense_D16N exm1616500 22 45182456 [A/G] NM_181334,NM_001017526,NM_001198726,NM_181335 PRR5-ARHGAP8,ARHGAP8,ARHGAP8,ARHGAP8 EXON Missense_V139M,Missense_V17M,Missense_V17M,Missense_V17M exm1616501 22 45182469 [A/G] NM_181334,NM_001017526,NM_001198726,NM_181335 PRR5-ARHGAP8,ARHGAP8,ARHGAP8,ARHGAP8 EXON Missense_G143D,Missense_G21D,Missense_G21D,Missense_G21D exm1616505 22 45198002 [A/G] NM_181334,NM_001017526,NM_001198726,NM_181335 PRR5-ARHGAP8,ARHGAP8,ARHGAP8,ARHGAP8 EXON Missense_R164Q,Missense_R42Q,Missense_R42Q,Missense_R42Q exm1616511 22 45198034 [T/C] NM_181334,NM_001017526,NM_001198726,NM_181335 PRR5-ARHGAP8,ARHGAP8,ARHGAP8,ARHGAP8 EXON Missense_R175W,Missense_R53W,Missense_R53W,Missense_R53W exm1616517 22 45204240 [A/G] NM_181334,NM_001017526,NM_001198726,NM_181335 PRR5-ARHGAP8,ARHGAP8,ARHGAP8,ARHGAP8 EXON Missense_Y196C,Missense_Y74C,Missense_Y74C,Missense_Y74C exm1616519 22 45204257 [T/A] NM_181334,NM_001017526,NM_001198726,NM_181335 PRR5-ARHGAP8,ARHGAP8,ARHGAP8,ARHGAP8 EXON Missense_N202Y,Missense_N80Y,Missense_N80Y,Missense_N80Y exm1616520 22 45204263 [T/C] NM_181334,NM_001017526,NM_001198726,NM_181335 PRR5-ARHGAP8,ARHGAP8,ARHGAP8,ARHGAP8 EXON Missense_R204W,Missense_R82W,Missense_R82W,Missense_R82W exm1616524 22 45204311 [G/C] NM_181334,NM_001017526,NM_001198726,NM_181335 PRR5-ARHGAP8,ARHGAP8,ARHGAP8,ARHGAP8 EXON Missense_D220H,Missense_D98H,Missense_D98H,Missense_D98H exm1616542 22 45218286 [A/G] NM_181334,NM_001017526,NM_001198726,NM_181335 PRR5-ARHGAP8,ARHGAP8,ARHGAP8,ARHGAP8 EXON Missense_Y263C,Missense_Y172C,Missense_Y141C,Missense_Y141C exm1616546 22 45218318 [T/G] NM_181334,NM_001017526,NM_001198726,NM_181335 PRR5-ARHGAP8,ARHGAP8,ARHGAP8,ARHGAP8 EXON Missense_D274Y,Missense_D183Y,Missense_D152Y,Missense_D152Y exm1616548 22 45218339 [A/G] NM_181334,NM_001017526,NM_001198726,NM_181335 PRR5-ARHGAP8,ARHGAP8,ARHGAP8,ARHGAP8 EXON Missense_E281K,Missense_E190K,Missense_E159K,Missense_E159K exm1616552 22 45221398 [A/G] NM_181334,NM_001017526,NM_001198726,NM_181335 PRR5-ARHGAP8,ARHGAP8,ARHGAP8,ARHGAP8 EXON Missense_R296Q,Missense_R205Q,Missense_R174Q,Missense_R174Q exm1616554 22 45221404 [T/C] NM_181334,NM_001017526,NM_001198726,NM_181335 PRR5-ARHGAP8,ARHGAP8,ARHGAP8,ARHGAP8 EXON Missense_P298L,Missense_P207L,Missense_P176L,Missense_P176L exm1616566 22 45241205 [T/C] NM_181334,NM_001017526,NM_001198726,NM_181335 PRR5-ARHGAP8,ARHGAP8,ARHGAP8,ARHGAP8 EXON Missense_T340M,Missense_T249M,Missense_T218M,Missense_T218M exm1616569 22 45241216 [T/G] NM_181334,NM_001017526,NM_001198726,NM_181335 PRR5-ARHGAP8,ARHGAP8,ARHGAP8,ARHGAP8 EXON Nonsense_E344X,Nonsense_E253X,Nonsense_E222X,Nonsense_E222X exm1616577 22 45243896 [C/G] NM_181334,NM_001017526,NM_001198726,NM_181335 PRR5-ARHGAP8,ARHGAP8,ARHGAP8,ARHGAP8 EXON Missense_Q360H,Missense_Q269H,Missense_Q238H,Missense_Q238H exm1616578 22 45243900 [A/G] NM_181334,NM_001017526,NM_001198726,NM_181335 PRR5-ARHGAP8,ARHGAP8,ARHGAP8,ARHGAP8 EXON Missense_V362I,Missense_V271I,Missense_V240I,Missense_V240I exm2235858 22 45244826 [T/G] NM_181334,NM_001017526,NM_001198726,NM_181335 PRR5-ARHGAP8,ARHGAP8,ARHGAP8,ARHGAP8 EXON Missense_F377V,Missense_F286V,Missense_F255V,Missense_F255V exm1616585 22 45244838 [A/G] NM_181334,NM_001017526,NM_001198726,NM_181335 PRR5-ARHGAP8,ARHGAP8,ARHGAP8,ARHGAP8 EXON Missense_G381R,Missense_G290R,Missense_G259R,Missense_G259R exm1616591 22 45244919 [A/G] NM_181334,NM_001017526,NM_001198726,NM_181335 PRR5-ARHGAP8,ARHGAP8,ARHGAP8,ARHGAP8 EXON Missense_E408K,Missense_E317K,Missense_E286K,Missense_E286K exm2268426 22 45251423 [A/G] NM_181334,NM_001017526,NM_001198726,NM_181335 PRR5-ARHGAP8,ARHGAP8,ARHGAP8,ARHGAP8 Silent,Silent,Silent,Silent exm1616610 22 45255637 [C/G] NM_181334,NM_001017526,NM_001198726,NM_181335 PRR5-ARHGAP8,ARHGAP8,ARHGAP8,ARHGAP8 EXON Missense_G424R,Missense_G333R,Silent,Missense_G302R exm1616611 22 45255643 [T/C] NM_181334,NM_001017526,NM_001198726,NM_181335 PRR5-ARHGAP8,ARHGAP8,ARHGAP8,ARHGAP8 EXON Missense_R426C,Missense_R335C,Silent,Missense_R304C exm1616612 22 45255655 [T/C] NM_181334,NM_001017526,NM_001198726,NM_181335 PRR5-ARHGAP8,ARHGAP8,ARHGAP8,ARHGAP8 EXON Missense_R430W,Missense_R339W,Silent,Missense_R308W exm1616618 22 45255679 [A/G] NM_181334,NM_001017526,NM_001198726,NM_181335 PRR5-ARHGAP8,ARHGAP8,ARHGAP8,ARHGAP8 EXON Missense_V438I,Missense_V347I,Silent,Missense_V316I exm1616619 22 45255682 [A/G] NM_181334,NM_001017526,NM_001198726,NM_181335 PRR5-ARHGAP8,ARHGAP8,ARHGAP8,ARHGAP8 EXON Missense_V439I,Missense_V348I,Silent,Missense_V317I exm1616623 22 45255688 [T/C] NM_181334,NM_001017526,NM_001198726,NM_181335 PRR5-ARHGAP8,ARHGAP8,ARHGAP8,ARHGAP8 EXON Missense_R441C,Missense_R350C,Silent,Missense_R319C exm1616624 22 45255689 [T/G] NM_181334,NM_001017526,NM_001198726,NM_181335 PRR5-ARHGAP8,ARHGAP8,ARHGAP8,ARHGAP8 EXON Missense_R441L,Missense_R350L,Silent,Missense_R319L exm2015300 22 45255714 [A/G] NM_181334,NM_001017526,NM_001198726,NM_181335 PRR5-ARHGAP8,ARHGAP8,ARHGAP8,ARHGAP8 EXON Synonymous_A449A,Synonymous_A358A,Silent,Synonymous_A327A exm1616640 22 45258162 [A/G] NM_181334,NM_001017526,NM_001198726,NM_181335 PRR5-ARHGAP8,ARHGAP8,ARHGAP8,ARHGAP8 EXON Missense_R452Q,Missense_R361Q,Synonymous_P295P,Missense_R330Q exm1616641 22 45258168 [A/G] NM_181334,NM_001017526,NM_001198726,NM_181335 PRR5-ARHGAP8,ARHGAP8,ARHGAP8,ARHGAP8 EXON Missense_S454N,Missense_S363N,Synonymous_E297E,Missense_S332N exm1616643 22 45258193 [T/G] NM_181334,NM_001017526,NM_001198726,NM_181335 PRR5-ARHGAP8,ARHGAP8,ARHGAP8,ARHGAP8 EXON Synonymous_S462S,Synonymous_S371S,Missense_X306E,Synonymous_S340S exm1616645 22 45258234 [C/G] NM_181334,NM_001017526,NM_001198726,NM_181335 PRR5-ARHGAP8,ARHGAP8,ARHGAP8,ARHGAP8 EXON Missense_S476C,Missense_S385C,Silent,Missense_S354C exm1616648 22 45258242 [G/C] NM_181334,NM_001017526,NM_001198726,NM_181335 PRR5-ARHGAP8,ARHGAP8,ARHGAP8,ARHGAP8 EXON Missense_V479L,Missense_V388L,Silent,Missense_V357L exm1616656 22 45258296 [A/G] NM_181334,NM_001017526,NM_001198726,NM_181335 PRR5-ARHGAP8,ARHGAP8,ARHGAP8,ARHGAP8 EXON Missense_E497K,Missense_E406K,Silent,Missense_E375K exm1616661 22 45258324 [T/C] NM_181334,NM_001017526,NM_001198726,NM_181335 PRR5-ARHGAP8,ARHGAP8,ARHGAP8,ARHGAP8 EXON Missense_P506L,Missense_P415L,Silent,Missense_P384L exm1616663 22 45258333 [G/C] NM_181334,NM_001017526,NM_001198726,NM_181335 PRR5-ARHGAP8,ARHGAP8,ARHGAP8,ARHGAP8 EXON Missense_P509R,Missense_P418R,Silent,Missense_P387R exm1616667 22 45258344 [A/G] NM_181334,NM_001017526,NM_001198726,NM_181335 PRR5-ARHGAP8,ARHGAP8,ARHGAP8,ARHGAP8 EXON Missense_G513S,Missense_G422S,Silent,Missense_G391S exm2015323 22 45258359 [G/C] NM_181334,NM_001017526,NM_001198726,NM_181335 PRR5-ARHGAP8,ARHGAP8,ARHGAP8,ARHGAP8 EXON Missense_E518Q,Missense_E427Q,Silent,Missense_E396Q exm1616670 22 45258373 [C/G] NM_181334,NM_001017526,NM_001198726,NM_181335 PRR5-ARHGAP8,ARHGAP8,ARHGAP8,ARHGAP8 EXON Missense_R522S,Missense_R431S,Silent,Missense_R400S exm1616674 22 45258398 [T/C] NM_181334,NM_001017526,NM_001198726,NM_181335 PRR5-ARHGAP8,ARHGAP8,ARHGAP8,ARHGAP8 EXON Missense_P531S,Missense_P440S,Silent,Missense_P409S exm1616675 22 45258401 [T/C] NM_181334,NM_001017526,NM_001198726,NM_181335 PRR5-ARHGAP8,ARHGAP8,ARHGAP8,ARHGAP8 EXON Missense_R532W,Missense_R441W,Silent,Missense_R410W exm1616676 22 45258402 [A/G] NM_181334,NM_001017526,NM_001198726,NM_181335 PRR5-ARHGAP8,ARHGAP8,ARHGAP8,ARHGAP8 EXON Missense_R532Q,Missense_R441Q,Silent,Missense_R410Q exm1616677 22 45258414 [T/C] NM_181334,NM_001017526,NM_001198726,NM_181335 PRR5-ARHGAP8,ARHGAP8,ARHGAP8,ARHGAP8 EXON Missense_T536M,Missense_T445M,Silent,Missense_T414M exm1616680 22 45258422 [A/C] NM_181334,NM_001017526,NM_001198726,NM_181335 PRR5-ARHGAP8,ARHGAP8,ARHGAP8,ARHGAP8 EXON Missense_T539P,Missense_T448P,Silent,Missense_T417P exm1616687 22 45258467 [T/C] NM_181334,NM_001017526,NM_001198726,NM_181335 PRR5-ARHGAP8,ARHGAP8,ARHGAP8,ARHGAP8 EXON Missense_R554C,Missense_R463C,Silent,Missense_R432C exm1616705 22 45279034 [T/C] NM_138415,NM_001135862,NM_001242450 PHF21B,PHF21B,PHF21B EXON Missense_G510R,Missense_G468R,Missense_G456R exm1616710 22 45279150 [T/C] NM_138415,NM_001135862,NM_001242450 PHF21B,PHF21B,PHF21B EXON Missense_R471H,Missense_R429H,Missense_R417H exm1616711 22 45279151 [A/G] NM_138415,NM_001135862,NM_001242450 PHF21B,PHF21B,PHF21B EXON Missense_R471C,Missense_R429C,Missense_R417C exm1616729 22 45283971 [T/C] NM_138415,NM_001135862,NM_001242450 PHF21B,PHF21B,PHF21B EXON Missense_A357T,Missense_A315T,Missense_A303T exm1616736 22 45287218 [T/C] NM_138415,NM_001135862,NM_001242450 PHF21B,PHF21B,PHF21B EXON Missense_Y328C,Missense_Y286C,Missense_Y274C exm1616743 22 45291948 [T/C] NM_138415,NM_001135862,NM_001242450 PHF21B,PHF21B,PHF21B EXON Missense_V283I,Missense_V241I,Missense_V229I exm1616756 22 45309808 [A/G] NM_138415,NM_001135862,NM_001242450 PHF21B,PHF21B,PHF21B EXON Missense_P242L,Missense_P200L,Missense_P188L exm1616758 22 45309820 [A/C] NM_138415,NM_001135862,NM_001242450 PHF21B,PHF21B,PHF21B EXON Missense_V238G,Missense_V196G,Missense_V184G exm1616760 22 45309851 [T/C] NM_138415,NM_001135862,NM_001242450 PHF21B,PHF21B,PHF21B EXON Missense_I228V,Silent,Silent exm1616777 22 45312306 [T/C] NM_138415,NM_001135862,NM_001242450 PHF21B,PHF21B,PHF21B EXON Missense_A140T,Missense_A140T,Missense_A128T exm1616787 22 45312410 [T/C] NM_138415,NM_001135862,NM_001242450 PHF21B,PHF21B,PHF21B EXON Missense_S105N,Missense_S105N,Missense_S93N exm1616792 22 45312455 [T/C] NM_138415,NM_001135862,NM_001242450 PHF21B,PHF21B,PHF21B EXON Missense_R90Q,Missense_R90Q,Missense_R78Q exm1616793 22 45312474 [T/C] NM_138415,NM_001135862,NM_001242450 PHF21B,PHF21B,PHF21B EXON Missense_V84I,Missense_V84I,Missense_V72I exm1616804 22 45405405 [T/G] NM_138415,NM_001135862 PHF21B,PHF21B EXON Missense_A9E,Missense_A9E exm2235862 22 45560641 [T/C] NM_007172,NM_153645 NUP50,NUP50 Silent,Silent exm1616809 22 45564104 [A/G] NM_007172,NM_153645 NUP50,NUP50 EXON Missense_D16N,Silent exm1616813 22 45567544 [T/C] NM_007172,NM_153645 NUP50,NUP50 EXON Missense_R45C,Missense_R17C exm1616851 22 45579311 [A/G] NM_007172,NM_153645 NUP50,NUP50 EXON Missense_E372K,Missense_E344K exm2273591 22 45580573 [T/C] NM_007172,NM_153645 NUP50,NUP50 EXON Silent,Silent exm1616907 22 45598872 [T/C] NM_001009880,NM_015264 KIAA0930,KIAA0930 EXON Missense_R284Q,Missense_R289Q exm1616946 22 45601725 [T/G] NM_001009880,NM_015264 KIAA0930,KIAA0930 EXON Missense_D95E,Missense_D100E exm1616957 22 45607987 [A/C] NM_001009880,NM_015264 KIAA0930,KIAA0930 EXON Synonymous_G22G,Synonymous_G27G exm1616964 22 45608215 [A/G] NM_001009880,NM_015264 KIAA0930,KIAA0930 EXON Silent,Nonsense_Q4X exm1616966 22 45608347 [A/G] NM_001009880,NM_015264 KIAA0930,KIAA0930 EXON Silent,Silent exm1616984 22 45683071 [A/C] NM_001167574,NM_006953 UPK3A,UPK3A EXON Silent,Nonsense_S76X exm1616985 22 45683103 [T/G] NM_001167574,NM_006953 UPK3A,UPK3A EXON Silent,Missense_S87A exm1616986 22 45683104 [A/C] NM_001167574,NM_006953 UPK3A,UPK3A EXON Silent,Nonsense_S87X exm1616988 22 45683116 [T/A] NM_001167574,NM_006953 UPK3A,UPK3A EXON Silent,Missense_Q91L exm1616991 22 45683179 [A/C] NM_001167574,NM_006953 UPK3A,UPK3A EXON Silent,Missense_D112A exm1616993 22 45683200 [T/C] NM_001167574,NM_006953 UPK3A,UPK3A EXON Silent,Missense_I119T exm1616996 22 45683248 [A/G] NM_001167574,NM_006953 UPK3A,UPK3A EXON Silent,Missense_R135K exm1616998 22 45683262 [A/G] NM_001167574,NM_006953 UPK3A,UPK3A EXON Silent,Missense_G140R exm1616999 22 45683265 [A/C] NM_001167574,NM_006953 UPK3A,UPK3A EXON Silent,Missense_T141P exm1617002 22 45683304 [C/G] NM_001167574,NM_006953 UPK3A,UPK3A EXON Silent,Missense_A154P exm1617015 22 45684998 [A/G] NM_001167574,NM_006953 UPK3A,UPK3A EXON Silent,Nonsense_W182X exm1617017 22 45685013 [A/G] NM_001167574,NM_006953 UPK3A,UPK3A EXON Silent,Missense_R187H exm1617019 22 45685025 [A/G] NM_001167574,NM_006953 UPK3A,UPK3A Silent,Silent exm1617025 22 45689118 [A/G] NM_001167574,NM_006953 UPK3A,UPK3A EXON Missense_V89I,Missense_V210I exm1617030 22 45691446 [A/T] NM_001167574,NM_006953 UPK3A,UPK3A EXON Missense_M116K,Missense_M237K exm2015456 22 45691521 [T/C] NM_001167574,NM_006953 UPK3A,UPK3A EXON Missense_S141L,Missense_S262L exm1617036 22 45691554 [T/C] NM_001167574,NM_006953 UPK3A,UPK3A EXON Missense_P152L,Missense_P273L exm1617049 22 45719183 [A/G] NM_001104595,NM_017911 FAM118A,FAM118A EXON Missense_V59I,Missense_V59I exm1617054 22 45719222 [A/G] NM_001104595,NM_017911 FAM118A,FAM118A EXON Missense_G72R,Missense_G72R exm1617055 22 45719228 [A/G] NM_001104595,NM_017911 FAM118A,FAM118A EXON Missense_V74I,Missense_V74I exm1617069 22 45723846 [A/G] NM_001104595,NM_017911 FAM118A,FAM118A EXON Missense_A142T,Missense_A142T exm1617075 22 45723898 [A/G] NM_001104595,NM_017911 FAM118A,FAM118A EXON Missense_R159Q,Missense_R159Q exm1617076 22 45723902 [G/C] NM_001104595,NM_017911 FAM118A,FAM118A EXON Missense_Q160H,Missense_Q160H exm1617096 22 45726589 [A/G] NM_001104595,NM_017911 FAM118A,FAM118A EXON Missense_V210I,Missense_V210I exm1617103 22 45728370 [A/G] NM_001104595,NM_017911 FAM118A,FAM118A EXON Missense_R239H,Missense_R239H exm1617131 22 45740462 [G/C] NM_148674 SMC1B EXON Missense_S1228T exm1617135 22 45741416 [A/T] NM_148674 SMC1B EXON Missense_Q1177L exm1617144 22 45749862 [A/G] NM_148674 SMC1B EXON Missense_A1090V exm1617149 22 45749966 [G/C] NM_148674 SMC1B EXON Missense_F1055L exm1617151 22 45749983 [T/G] NM_148674 SMC1B EXON Missense_L1050M exm1617152 22 45750004 [T/C] NM_148674 SMC1B EXON Missense_A1043T exm1617162 22 45755814 [T/G] NM_148674 SMC1B EXON Missense_E911D exm1617180 22 45767391 [T/C] NM_148674 SMC1B EXON Missense_R758Q exm1617183 22 45767421 [T/C] NM_148674 SMC1B EXON Missense_C748Y exm1617190 22 45768153 [T/C] NM_148674 SMC1B EXON Missense_R693H exm1617195 22 45779406 [T/C] NM_148674 SMC1B EXON Missense_D667N exm1617198 22 45782886 [T/C] NM_148674 SMC1B EXON Missense_C591Y exm1617205 22 45789642 [A/C] NM_148674 SMC1B EXON Missense_F473V exm1617210 22 45792273 [T/C] NM_148674 SMC1B EXON Missense_D403N exm1617211 22 45792283 [T/G] NM_148674 SMC1B EXON Missense_E399D exm1617215 22 45792359 [T/C] NM_148674 SMC1B EXON Missense_R374H exm1617218 22 45795041 [A/T] NM_148674 SMC1B EXON Missense_S349R exm1617228 22 45802354 [A/G] NM_148674 SMC1B EXON Missense_L201S exm1617236 22 45802704 [T/C] NM_148674 SMC1B EXON Missense_R114H exm1617237 22 45802728 [T/C] NM_148674 SMC1B EXON Missense_R106H exm1617238 22 45804621 [T/C] NM_148674 SMC1B EXON Missense_E90K exm1617249 22 45810273 [A/G] NM_015653 RIBC2 EXON Missense_H62R exm1617251 22 45813530 [A/G] NM_015653 RIBC2 EXON Missense_G82R exm1617256 22 45813642 [C/G] NM_015653 RIBC2 EXON Missense_R119T exm1617260 22 45813687 [A/G] NM_015653 RIBC2 EXON Missense_R134Q exm1617271 22 45818230 [T/A] NM_015653 RIBC2 EXON Missense_W201R exm1617276 22 45821887 [A/G] NM_015653 RIBC2 EXON Nonsense_W240X exm1617281 22 45821917 [T/C] NM_015653 RIBC2 EXON Missense_T250I exm1617282 22 45821934 [T/C] NM_015653 RIBC2 EXON Missense_R256C exm1617283 22 45821935 [A/G] NM_015653 RIBC2 EXON Missense_R256H exm1617284 22 45821956 [C/G] NM_015653 RIBC2 EXON Missense_S263W exm1617290 22 45821982 [A/G] NM_015653 RIBC2 EXON Missense_A272T exm1617291 22 45822003 [A/G] NM_015653 RIBC2 EXON Missense_S279G exm1617301 22 45826880 [A/G] NM_015653 RIBC2 EXON Missense_G330S exm1617321 22 45914595 [T/C] NM_006485,NM_006487,NM_006486,NM_001996 FBLN1,FBLN1,FBLN1,FBLN1 EXON Missense_A38V,Missense_A38V,Missense_A38V,Missense_A38V exm1617338 22 45921523 [A/G] NM_006485,NM_006487,NM_006486,NM_001996 FBLN1,FBLN1,FBLN1,FBLN1 EXON Missense_G96S,Missense_G96S,Missense_G96S,Missense_G96S exm1617344 22 45923827 [A/G] NM_006485,NM_006487,NM_006486,NM_001996 FBLN1,FBLN1,FBLN1,FBLN1 EXON Missense_Q141R,Missense_Q141R,Missense_Q141R,Missense_Q141R exm1617351 22 45927150 [A/G] NM_006485,NM_006487,NM_006486,NM_001996 FBLN1,FBLN1,FBLN1,FBLN1 EXON Missense_I164V,Missense_I164V,Missense_I164V,Missense_I164V exm1617369 22 45929694 [A/C] NM_006485,NM_006487,NM_006486,NM_001996 FBLN1,FBLN1,FBLN1,FBLN1 EXON Missense_I234L,Missense_I234L,Missense_I234L,Missense_I234L exm1617392 22 45938088 [A/G] NM_006485,NM_006487,NM_006486,NM_001996 FBLN1,FBLN1,FBLN1,FBLN1 EXON Missense_V374M,Missense_V374M,Missense_V374M,Missense_V374M exm1617405 22 45939367 [T/G] NM_006485,NM_006487,NM_006486,NM_001996 FBLN1,FBLN1,FBLN1,FBLN1 EXON Missense_V428L,Missense_V428L,Missense_V428L,Missense_V428L exm1617430 22 45946472 [G/C] NM_006485,NM_006487,NM_006486,NM_001996 FBLN1,FBLN1,FBLN1,FBLN1 EXON Missense_E558D,Missense_E558D,Missense_E558D,Missense_E558D exm1617433 22 45946488 [A/G] NM_006485,NM_006487,NM_006486,NM_001996 FBLN1,FBLN1,FBLN1,FBLN1 EXON Missense_A564T,Missense_A564T,Missense_A564T,Missense_A564T exm1617434 22 45946495 [T/C] NM_006485,NM_006487,NM_006486,NM_001996 FBLN1,FBLN1,FBLN1,FBLN1 EXON Missense_T566M,Missense_T566I,Missense_T566M,Missense_T566I exm1617440 22 45958890 [T/C] NM_006485,NM_006486,NM_001996 FBLN1,FBLN1,FBLN1 EXON Silent,Silent,Missense_A599V exm1617445 22 45958958 [A/G] NM_006485,NM_006486,NM_001996 FBLN1,FBLN1,FBLN1 EXON Silent,Silent,Missense_T622A exm1617461 22 45960864 [T/G] NM_006485,NM_006486 FBLN1,FBLN1 EXON Missense_D600Y,Silent exm1617465 22 45970420 [A/G] NM_006486 FBLN1 EXON Missense_R576H exm1617467 22 45970491 [A/G] NM_006486 FBLN1 EXON Missense_V600I exm1617478 22 45972941 [T/G] NM_006486 FBLN1 EXON Missense_R642L exm1617488 22 45996280 [A/G] NM_006486 FBLN1 EXON Missense_R689Q exm1617492 22 45996298 [A/G] NM_006486 FBLN1 EXON Missense_H695R exm1617499 22 46085654 [T/C] NM_013236,NM_001167621 ATXN10,ATXN10 EXON Missense_A60V,Silent exm1617501 22 46085782 [A/G] NM_013236,NM_001167621 ATXN10,ATXN10 EXON Missense_R103G,Silent exm1617506 22 46096174 [T/G] NM_013236,NM_001167621 ATXN10,ATXN10 EXON Missense_G135V,Missense_G71V exm1617527 22 46125340 [T/C] NM_013236,NM_001167621 ATXN10,ATXN10 EXON Missense_T255M,Missense_T191M exm1617528 22 46125400 [T/C] NM_013236,NM_001167621 ATXN10,ATXN10 EXON Missense_I275T,Missense_I211T exm1617534 22 46134641 [A/G] NM_013236,NM_001167621 ATXN10,ATXN10 EXON Missense_V309I,Missense_V245I exm2015652 22 46238914 [A/C] NM_013236,NM_001167621 ATXN10,ATXN10 EXON Missense_E427D,Missense_E363D exm1617565 22 46238930 [A/C] NM_013236,NM_001167621 ATXN10,ATXN10 EXON Missense_Q433K,Missense_Q369K exm2261238 22 46287772 [T/C] exm1617578 22 46318879 [T/C] NM_058238 WNT7B EXON Missense_G303S exm1617581 22 46318884 [A/G] NM_058238 WNT7B EXON Missense_A301V exm1617587 22 46318927 [T/C] NM_058238 WNT7B EXON Missense_V287M exm1617606 22 46319202 [T/C] NM_058238 WNT7B EXON Missense_R195Q exm1617620 22 46327092 [T/G] NM_058238 WNT7B EXON Nonsense_C152X exm1617624 22 46327122 [G/C] NM_058238 WNT7B EXON Missense_N142K exm1617653 22 46447714 [T/C] NM_018280 C22orf26 EXON Missense_Q137R exm1617726 22 46611106 [T/C] NM_001001928,NM_005036 PPARA,PPARA EXON Missense_T82I,Missense_T82I exm1617738 22 46614297 [T/C] NM_001001928,NM_005036 PPARA,PPARA EXON Synonymous_N169N,Synonymous_N169N exm1617741 22 46615732 [A/G] NM_001001928,NM_005036 PPARA,PPARA EXON Missense_R178G,Missense_R178G exm1617749 22 46615880 [T/C] NM_001001928,NM_005036 PPARA,PPARA EXON Missense_V227A,Missense_V227A exm-rs4253772 22 46627603 [T/C] NM_001001928,NM_005036 PPARA,PPARA Silent,Silent exm1617756 22 46627735 [T/C] NM_001001928,NM_005036 PPARA,PPARA EXON Missense_T253M,Missense_T253M exm1617760 22 46627780 [T/C] NM_001001928,NM_005036 PPARA,PPARA EXON Missense_A268V,Missense_A268V exm-rs4253776 22 46629479 [A/G] NM_001001928,NM_005036 PPARA,PPARA Silent,Silent exm1617773 22 46631108 [T/A] NM_001001928,NM_005036 PPARA,PPARA EXON Missense_Q413L,Missense_Q413L exm1617776 22 46631206 [A/C] NM_001001928,NM_005036 PPARA,PPARA EXON Missense_I446L,Missense_I446L exm1617783 22 46640993 [A/G] NM_207327 CDPF1 EXON Missense_T123M exm1617786 22 46641077 [T/C] NM_207327 CDPF1 EXON Missense_N95S exm1617795 22 46643023 [A/C] NM_207327 CDPF1 EXON Missense_L70R exm1617807 22 46644168 [A/G] NM_207327 CDPF1 EXON Missense_V5A exm1617809 22 46644177 [A/G] NM_207327 CDPF1 EXON Missense_A2V exm1617810 22 46644178 [T/C] NM_207327 CDPF1 EXON Missense_A2T exm1617823 22 46652516 [T/A] NM_006071 PKDREJ EXON Missense_Y2235F exm1617828 22 46652612 [A/G] NM_006071 PKDREJ EXON Missense_M2203T exm1617829 22 46652628 [A/G] NM_006071 PKDREJ EXON Missense_R2198C exm1617834 22 46652736 [T/C] NM_006071 PKDREJ EXON Missense_V2162I exm1617839 22 46652892 [A/C] NM_006071 PKDREJ EXON Missense_V2110L exm1617864 22 46653273 [T/C] NM_006071 PKDREJ EXON Missense_G1983S exm1617866 22 46653287 [T/C] NM_006071 PKDREJ EXON Missense_Y1978C exm1617867 22 46653323 [T/C] NM_006071 PKDREJ EXON Missense_Y1966C exm1617871 22 46653534 [T/G] NM_006071 PKDREJ EXON Missense_L1896M exm1617873 22 46653548 [T/C] NM_006071 PKDREJ EXON Missense_R1891Q exm1617879 22 46653681 [A/G] NM_006071 PKDREJ EXON Nonsense_Q1847X exm1617881 22 46653809 [T/G] NM_006071 PKDREJ EXON Missense_K1804T exm1617890 22 46653989 [T/C] NM_006071 PKDREJ EXON Missense_R1744H exm1617892 22 46654025 [T/C] NM_006071 PKDREJ EXON Missense_R1732H exm1617893 22 46654035 [T/C] NM_006071 PKDREJ EXON Missense_V1729I exm1617909 22 46654454 [T/C] NM_006071 PKDREJ EXON Missense_S1589N exm1617911 22 46654515 [A/G] NM_006071 PKDREJ EXON Missense_R1569W exm1617915 22 46654572 [T/C] NM_006071 PKDREJ EXON Missense_V1550I exm1617917 22 46654598 [T/C] NM_006071 PKDREJ EXON Missense_N1541S exm1617920 22 46654636 [G/C] NM_006071 PKDREJ EXON Missense_I1528M exm2015726 22 46654664 [T/G] NM_006071 PKDREJ EXON Missense_P1519H exm1617934 22 46655108 [A/G] NM_006071 PKDREJ EXON Missense_M1371T exm1617940 22 46655313 [T/C] NM_006071 PKDREJ EXON Missense_E1303K exm1617942 22 46655319 [T/C] NM_006071 PKDREJ EXON Missense_N1301D exm1617951 22 46655498 [T/C] NM_006071 PKDREJ EXON Missense_R1241H exm1617958 22 46655652 [T/C] NM_006071 PKDREJ EXON Missense_V1190M exm1617965 22 46655779 [G/C] NM_006071 PKDREJ EXON Missense_I1147M exm1617966 22 46655919 [T/A] NM_006071 PKDREJ EXON Missense_S1101C exm1617967 22 46655925 [T/C] NM_006071 PKDREJ EXON Missense_I1099V exm1617968 22 46655948 [T/C] NM_006071 PKDREJ EXON Missense_N1091S exm1617969 22 46655966 [T/C] NM_006071 PKDREJ EXON Missense_R1085H exm1617981 22 46656242 [A/G] NM_006071 PKDREJ EXON Missense_V993A exm1617982 22 46656246 [T/G] NM_006071 PKDREJ EXON Missense_T992P exm1617984 22 46656275 [G/C] NM_006071 PKDREJ EXON Missense_T982R exm1617985 22 46656278 [A/G] NM_006071 PKDREJ EXON Missense_T981M exm1617988 22 46656332 [C/G] NM_006071 PKDREJ EXON Missense_A963G exm1617990 22 46656407 [A/T] NM_006071 PKDREJ EXON Missense_D938V exm1617992 22 46656479 [A/G] NM_006071 PKDREJ EXON Missense_L914P exm1617993 22 46656494 [T/C] NM_006071 PKDREJ EXON Missense_D909G exm1617996 22 46656534 [T/C] NM_006071 PKDREJ EXON Missense_G896S exm1617997 22 46656551 [T/C] NM_006071 PKDREJ EXON Missense_N890S exm2235877 22 46656638 [A/G] NM_006071 PKDREJ EXON Missense_M861T exm1618007 22 46656813 [T/C] NM_006071 PKDREJ EXON Missense_I803V exm1618009 22 46656831 [A/G] NM_006071 PKDREJ EXON Missense_R797C exm1618019 22 46657038 [T/C] NM_006071 PKDREJ EXON Missense_D728N exm1618020 22 46657047 [A/G] NM_006071 PKDREJ EXON Missense_P725S exm1618031 22 46657285 [A/C] NM_006071 PKDREJ EXON Missense_L645F exm1618032 22 46657308 [T/C] NM_006071 PKDREJ EXON Missense_M638V exm1618037 22 46657447 [A/G] NM_006071 PKDREJ EXON Synonymous_H591H exm1618038 22 46657475 [A/G] NM_006071 PKDREJ EXON Missense_V582A exm2015753 22 46657485 [T/C] NM_006071 PKDREJ EXON Missense_K579E exm1618047 22 46657713 [T/C] NM_006071 PKDREJ EXON Missense_M503V exm1618054 22 46657881 [T/C] NM_006071 PKDREJ EXON Missense_R447G exm1618055 22 46657895 [A/G] NM_006071 PKDREJ EXON Missense_A442V exm1618065 22 46658232 [A/G] NM_006071 PKDREJ EXON Missense_W330R exm2235882 22 46658421 [T/C] NM_006071 PKDREJ EXON Missense_V267M exm1618077 22 46658471 [G/C] NM_006071 PKDREJ EXON Missense_P250R exm1618080 22 46658525 [T/C] NM_006071 PKDREJ EXON Missense_R232H exm1618089 22 46658619 [T/G] NM_006071 PKDREJ EXON Missense_H201N exm1618112 22 46664412 [T/C] NM_017931 TTC38 EXON Missense_A12V exm1618123 22 46669887 [A/G] NM_017931 TTC38 EXON Missense_M96V exm1618135 22 46671180 [T/C] NM_017931 TTC38 EXON Missense_I134T exm1618145 22 46674554 [A/G] NM_017931 TTC38 EXON Missense_K204R exm1618157 22 46677607 [T/C] NM_017931 TTC38 EXON Missense_F243L exm1618161 22 46679924 [C/G] NM_017931 TTC38 EXON Missense_E264Q exm1618163 22 46681141 [A/G] NM_017931 TTC38 EXON Missense_E267K exm1618169 22 46682976 [T/C] NM_017931 TTC38 EXON Missense_P281S exm1618171 22 46682995 [A/G] NM_017931 TTC38 EXON Missense_D287G exm1618173 22 46683037 [A/G] NM_017931 TTC38 EXON Missense_R301H exm1618177 22 46684364 [T/C] NM_017931 TTC38 EXON Missense_R321W exm1618179 22 46684377 [A/G] NM_017931 TTC38 EXON Missense_R325Q exm1618184 22 46684473 [A/G] NM_017931 TTC38 EXON Missense_R357Q exm1618192 22 46685316 [A/G] NM_017931 TTC38 EXON Missense_C367Y exm1618194 22 46685334 [A/G] NM_017931 TTC38 EXON Missense_R373Q exm1618199 22 46685426 [T/C] NM_017931 TTC38 EXON Missense_R404W exm1618202 22 46685736 [A/G] NM_017931 TTC38 EXON Missense_N419S exm1618204 22 46685754 [T/C] NM_017931 TTC38 EXON Missense_A425V exm1618207 22 46685777 [A/G] NM_017931 TTC38 EXON Missense_V433I exm1618212 22 46688749 [T/C] NM_017931 TTC38 EXON Missense_R460C exm1618216 22 46693319 [T/G] NM_016426 GTSE1 EXON Missense_D8Y exm1618218 22 46693375 [A/G] NM_016426 GTSE1 EXON Synonymous_E26E exm1618225 22 46704244 [A/G] NM_016426 GTSE1 EXON Missense_G56R exm1618230 22 46704337 [T/C] NM_016426 GTSE1 EXON Missense_P87S exm1618233 22 46704467 [A/G] NM_016426 GTSE1 EXON Missense_R130Q exm1618242 22 46704577 [T/G] NM_016426 GTSE1 EXON Missense_Y167D exm1618244 22 46704610 [T/G] NM_016426 GTSE1 EXON Missense_V178L exm1618255 22 46704692 [T/C] NM_016426 GTSE1 EXON Missense_P205L exm1618257 22 46704734 [T/C] NM_016426 GTSE1 EXON Missense_A219V exm1618259 22 46704833 [T/C] NM_016426 GTSE1 EXON Missense_A252V exm1618267 22 46708152 [A/G] NM_016426 GTSE1 EXON Missense_A293T exm1618268 22 46708155 [A/G] NM_016426 GTSE1 EXON Missense_G294R exm1618269 22 46708156 [A/G] NM_016426 GTSE1 EXON Missense_G294E exm1618270 22 46708180 [A/G] NM_016426 GTSE1 EXON Missense_R302Q exm1618275 22 46709881 [A/G] NM_016426 GTSE1 EXON Missense_S341N exm1618284 22 46712019 [T/C] NM_016426 GTSE1 EXON Missense_L381P exm1618285 22 46712021 [T/C] NM_016426 GTSE1 EXON Missense_R382W exm1618287 22 46712058 [T/C] NM_016426 GTSE1 EXON Missense_S394F exm1618294 22 46712228 [T/C] NM_016426 GTSE1 EXON Missense_R451W exm2015820 22 46712229 [A/G] NM_016426 GTSE1 EXON Missense_R451Q exm1618298 22 46719100 [G/C] NM_016426 GTSE1 EXON Missense_D482E exm1618299 22 46719120 [T/C] NM_016426 GTSE1 EXON Missense_S489L exm2268444 22 46722256 [A/G] NM_016426 GTSE1 Silent exm1618306 22 46722361 [A/C] NM_016426 GTSE1 EXON Missense_R512S exm1618307 22 46722362 [A/G] NM_016426 GTSE1 EXON Missense_R512H exm1618309 22 46722397 [A/G] NM_016426 GTSE1 EXON Missense_A524T exm1618314 22 46722419 [T/C] NM_016426 GTSE1 EXON Missense_P531L exm1618318 22 46722484 [A/G] NM_016426 GTSE1 EXON Missense_V553M exm1618320 22 46722512 [A/G] NM_016426 GTSE1 EXON Missense_R562Q exm1618328 22 46724641 [T/C] NM_016426 GTSE1 EXON Missense_S594F exm2015831 22 46724650 [C/G] NM_016426 GTSE1 EXON Missense_R597T exm1618330 22 46724731 [C/G] NM_016426 GTSE1 EXON Missense_A624G exm1618333 22 46724769 [G/C] NM_016426 GTSE1 EXON Missense_D637H exm1618336 22 46725288 [A/G] NM_016426 GTSE1 EXON Missense_A654T exm1618349 22 46725960 [T/C] NM_016426 GTSE1 EXON Missense_S718F exm1618350 22 46725974 [G/C] NM_016426 GTSE1 EXON Missense_L723V exm1618352 22 46725983 [G/C] NM_016426 GTSE1 EXON Missense_E726Q exm1618359 22 46731689 [T/G] NM_018006 TRMU EXON Missense_A10S exm1618371 22 46733831 [A/G] NM_018006 TRMU EXON Missense_D80N exm1618372 22 46739174 [T/G] NM_018006 TRMU EXON Missense_E88D exm1618375 22 46739206 [T/C] NM_018006 TRMU EXON Missense_I99T exm1618382 22 46742405 [A/G] NM_018006 TRMU EXON Missense_E148K exm1618384 22 46742424 [A/G] NM_018006 TRMU EXON Missense_R154Q exm2015856 22 46746276 [C/G] NM_018006 TRMU EXON Missense_I189M exm1618406 22 46749744 [A/G] NM_018006 TRMU EXON Missense_V285I exm2015872 22 46751377 [G/C] NM_018006 TRMU EXON Missense_L304V exm2015883 22 46751949 [T/C] NM_018006 TRMU EXON Missense_R361C exm1618440 22 46752829 [T/C] NM_018006 TRMU EXON Missense_R398C exm1618464 22 46759949 [A/G] NM_014246 CELSR1 EXON Synonymous_N2993N exm1618467 22 46759981 [C/G] NM_014246 CELSR1 EXON Missense_P2983A exm1618470 22 46760037 [A/G] NM_014246 CELSR1 EXON Missense_S2964L exm1618477 22 46760086 [T/C] NM_014246 CELSR1 EXON Missense_G2948S exm1618484 22 46760115 [T/G] NM_014246 CELSR1 EXON Missense_P2938Q exm1618504 22 46760604 [T/C] NM_014246 CELSR1 EXON Missense_G2862S exm1618518 22 46761221 [T/C] NM_014246 CELSR1 EXON Missense_A2821T exm1618530 22 46761561 [T/C] NM_014246 CELSR1 EXON Missense_V2776M exm1618534 22 46762301 [A/G] NM_014246 CELSR1 EXON Missense_S2761L exm2015929 22 46762891 [A/G] NM_014246 CELSR1 EXON Missense_T2735M exm1618549 22 46762969 [T/C] NM_014246 CELSR1 EXON Missense_R2709Q exm1618550 22 46762970 [G/C] NM_014246 CELSR1 EXON Missense_R2709G exm1618551 22 46762988 [T/C] NM_014246 CELSR1 EXON Missense_V2703M exm1618555 22 46763006 [A/C] NM_014246 CELSR1 EXON Missense_V2697F exm1618561 22 46763654 [T/C] NM_014246 CELSR1 EXON Missense_Y2684C exm1618572 22 46763750 [T/G] NM_014246 CELSR1 EXON Missense_S2652Y exm1618580 22 46765593 [A/G] NM_014246 CELSR1 EXON Missense_I2623T exm1618603 22 46768912 [T/C] NM_014246 CELSR1 EXON Missense_M2543V exm1618608 22 46772958 [T/C] NM_014246 CELSR1 EXON Synonymous_P2528P exm1618611 22 46772988 [T/G] NM_014246 CELSR1 EXON Missense_F2518L exm1618621 22 46773124 [T/C] NM_014246 CELSR1 EXON Missense_Y2473C exm1618625 22 46774492 [T/C] NM_014246 CELSR1 EXON Missense_R2460H exm1618631 22 46774558 [T/C] NM_014246 CELSR1 EXON Missense_R2438Q exm1618643 22 46776781 [A/G] NM_014246 CELSR1 EXON Missense_P2387L exm1618663 22 46777936 [T/G] NM_014246 CELSR1 EXON Missense_L2299M exm1618665 22 46780446 [T/C] NM_014246 CELSR1 EXON Missense_E2293K exm1618669 22 46780494 [T/G] NM_014246 CELSR1 EXON Missense_L2277M exm1618671 22 46780521 [T/C] NM_014246 CELSR1 EXON Missense_T2268A exm1618695 22 46782461 [T/C] NM_014246 CELSR1 EXON Missense_A2193T exm1618713 22 46785281 [T/C] NM_014246 CELSR1 EXON Missense_R2154H exm1618734 22 46787544 [A/G] NM_014246 CELSR1 EXON Missense_T2045M exm1618740 22 46787596 [T/C] NM_014246 CELSR1 EXON Missense_V2028I exm1618744 22 46787668 [T/C] NM_014246 CELSR1 EXON Missense_D2004N exm1618745 22 46787694 [A/G] NM_014246 CELSR1 EXON Missense_L1995P exm1618746 22 46787697 [A/G] NM_014246 CELSR1 EXON Missense_L1994P exm1618758 22 46790131 [A/C] NM_014246 CELSR1 EXON Missense_W1958G exm1618759 22 46790142 [A/G] NM_014246 CELSR1 EXON Missense_P1954L exm1618761 22 46790159 [T/C] NM_014246 CELSR1 EXON Synonymous_K1948K exm1618769 22 46793592 [A/G] NM_014246 CELSR1 EXON Missense_Y1894H exm1618770 22 46793607 [T/C] NM_014246 CELSR1 EXON Missense_D1889N exm1618772 22 46793621 [T/C] NM_014246 CELSR1 EXON Missense_N1884S exm1618777 22 46793726 [A/G] NM_014246 CELSR1 EXON Missense_T1849M exm1618788 22 46794497 [A/G] NM_014246 CELSR1 EXON Missense_T1817M exm-rs9615362 22 46795141 [A/C] NM_014246 CELSR1 Silent exm1618795 22 46795723 [T/C] NM_014246 CELSR1 EXON Missense_R1768Q exm1618797 22 46795742 [T/C] NM_014246 CELSR1 EXON Missense_V1762M exm2016026 22 46804901 [A/G] NM_014246 CELSR1 EXON Missense_R1740C exm1618813 22 46805772 [T/C] NM_014246 CELSR1 EXON Missense_A1647T exm1618832 22 46807602 [T/C] NM_014246 CELSR1 EXON Missense_V1556M exm1618837 22 46829349 [A/C] NM_014246 CELSR1 EXON Missense_V1518F exm1618839 22 46829377 [A/G] NM_014246 CELSR1 EXON Synonymous_G1508G exm1618852 22 46835086 [A/G] NM_014246 CELSR1 EXON Missense_T1469M exm1618856 22 46835126 [A/G] NM_014246 CELSR1 EXON Missense_R1456W exm1618859 22 46835165 [T/G] NM_014246 CELSR1 EXON Missense_T1443P exm1618861 22 46835192 [T/C] NM_014246 CELSR1 EXON Missense_E1434K exm1618862 22 46835207 [T/C] NM_014246 CELSR1 EXON Missense_V1429M exm1618867 22 46835243 [T/C] NM_014246 CELSR1 EXON Missense_T1417A exm2276776 22 46835265 [A/G] NM_014246 CELSR1 EXON Synonymous_N1409N exm1618870 22 46835285 [A/G] NM_014246 CELSR1 EXON Missense_R1403C exm1618891 22 46859751 [T/C] NM_014246 CELSR1 EXON Missense_G1346S exm1618907 22 46860063 [T/C] NM_014246 CELSR1 EXON Missense_V1242I exm1618909 22 46860090 [T/C] NM_014246 CELSR1 EXON Missense_A1233T exm1618924 22 46929575 [T/C] NM_014246 CELSR1 EXON Missense_D1165N exm1618931 22 46929692 [A/G] NM_014246 CELSR1 EXON Missense_C1126R exm1618940 22 46929838 [A/G] NM_014246 CELSR1 EXON Missense_T1077M exm1618944 22 46929896 [T/C] NM_014246 CELSR1 EXON Missense_A1058T exm1618945 22 46929899 [A/G] NM_014246 CELSR1 EXON Missense_R1057C exm1618948 22 46930003 [T/C] NM_014246 CELSR1 EXON Missense_R1022H exm1618950 22 46930013 [A/C] NM_014246 CELSR1 EXON Missense_A1019S exm1618958 22 46930138 [A/G] NM_014246 CELSR1 EXON Missense_T977I exm1618966 22 46930297 [T/C] NM_014246 CELSR1 EXON Missense_N924S exm1618967 22 46930313 [A/G] NM_014246 CELSR1 EXON Missense_R919W exm1618968 22 46930318 [A/G] NM_014246 CELSR1 EXON Missense_T917M exm1618971 22 46930463 [T/C] NM_014246 CELSR1 EXON Missense_I869V exm1618982 22 46930646 [T/C] NM_014246 CELSR1 EXON Missense_I808V exm1618985 22 46930733 [T/C] NM_014246 CELSR1 EXON Missense_V779I exm1618988 22 46930747 [T/C] NM_014246 CELSR1 EXON Missense_H774R exm1618989 22 46930750 [A/G] NM_014246 CELSR1 EXON Missense_A773V exm1618990 22 46930754 [T/C] NM_014246 CELSR1 EXON Missense_T772A exm1618991 22 46930763 [A/G] NM_014246 CELSR1 EXON Missense_R769W exm1618997 22 46930798 [T/C] NM_014246 CELSR1 EXON Missense_Q757R exm1618999 22 46930828 [A/G] NM_014246 CELSR1 EXON Missense_A747V exm1619035 22 46931309 [T/C] NM_014246 CELSR1 EXON Missense_I587V exm1619036 22 46931324 [A/G] NM_014246 CELSR1 EXON Missense_Y582H exm1619041 22 46931402 [C/G] NM_014246 CELSR1 EXON Missense_L556V exm1619065 22 46931858 [T/C] NM_014246 CELSR1 EXON Missense_E404K exm1619069 22 46931921 [A/G] NM_014246 CELSR1 EXON Missense_P383S exm1619080 22 46932032 [T/A] NM_014246 CELSR1 EXON Missense_T346S exm2273044 22 46961271 [T/C] exm-rs5768984 22 46978776 [A/G] exm1619115 22 47022814 [T/G] NM_015124 GRAMD4 EXON Missense_V40L exm1619123 22 47057289 [A/G] NM_015124 GRAMD4 EXON Missense_Q139R exm1619150 22 47060014 [T/C] NM_015124 GRAMD4 EXON Synonymous_T239T exm1619167 22 47064743 [T/C] NM_015124 GRAMD4 EXON Missense_A341V exm1619185 22 47069574 [T/C] NM_015124 GRAMD4 EXON Missense_T416M exm2255254 22 47069581 [A/G] NM_015124 GRAMD4 EXON Synonymous_S418S exm1619193 22 47069710 [A/G] NM_015124 GRAMD4 EXON Synonymous_A461A exm2016176 22 47085983 [T/C] NM_022766 CERK EXON Missense_I483V exm1619231 22 47086006 [G/C] NM_022766 CERK EXON Missense_G475A exm2276777 22 47086007 [A/C] NM_022766 CERK EXON Missense_G475W exm1619232 22 47086016 [A/G] NM_022766 CERK EXON Missense_L472F exm1619237 22 47086048 [A/G] NM_022766 CERK EXON Missense_T461M exm2016179 22 47087519 [T/C] NM_022766 CERK EXON Missense_R428G exm1619247 22 47087575 [A/G] NM_022766 CERK EXON Missense_P409L exm1619251 22 47087651 [T/C] NM_022766 CERK EXON Missense_V384I exm1619253 22 47087669 [T/C] NM_022766 CERK EXON Missense_V378M exm1619260 22 47091113 [T/C] NM_022766 CERK EXON Missense_R348Q exm1619262 22 47091143 [A/C] NM_022766 CERK EXON Missense_V338G exm1619266 22 47095235 [A/C] NM_022766 CERK EXON Missense_L306F exm1619269 22 47095300 [T/C] NM_022766 CERK EXON Missense_V285M exm1619270 22 47095308 [A/C] NM_022766 CERK EXON Missense_R282L exm1619271 22 47095309 [A/G] NM_022766 CERK EXON Missense_R282C exm1619280 22 47097544 [T/C] NM_022766 CERK EXON Missense_H260R exm1619292 22 47103788 [A/G] NM_022766 CERK EXON Missense_R223W exm1619293 22 47103809 [T/C] NM_022766 CERK EXON Missense_G216R exm1619296 22 47103823 [A/G] NM_022766 CERK EXON Missense_T211M exm1619299 22 47103884 [T/C] NM_022766 CERK EXON Missense_I191V exm1619303 22 47106996 [G/C] NM_022766 CERK EXON Missense_D186H exm1619310 22 47108154 [A/G] NM_022766 CERK EXON Missense_P139L exm1619311 22 47108163 [A/T] NM_022766 CERK EXON Missense_F136Y exm1619312 22 47108189 [T/C] NM_022766 CERK EXON Synonymous_T127T exm1619326 22 47116913 [T/C] NM_022766 CERK Silent exm1619332 22 47158733 [A/C] NM_014346 TBC1D22A EXON Missense_K17T exm1619358 22 47189552 [A/G] NM_014346 TBC1D22A EXON Missense_E92K exm1619369 22 47189678 [G/C] NM_014346 TBC1D22A EXON Missense_P134A exm1619376 22 47193415 [A/G] NM_014346 TBC1D22A EXON Missense_T179A exm1619390 22 47287231 [T/C] NM_014346 TBC1D22A EXON Missense_F260L exm1619394 22 47290705 [A/G] NM_014346 TBC1D22A EXON Missense_S288N exm1619398 22 47290738 [T/C] NM_014346 TBC1D22A EXON Missense_T299M exm1619419 22 47370218 [A/G] NM_014346 TBC1D22A EXON Missense_G350S exm1619422 22 47370227 [A/G] NM_014346 TBC1D22A EXON Missense_A353T exm1619434 22 47433018 [C/G] NM_014346 TBC1D22A EXON Missense_A418G exm1619437 22 47433062 [T/C] NM_014346 TBC1D22A EXON Missense_R433C exm2268445 22 47593413 [A/G] exm2273045 22 47683805 [T/C] exm2273046 22 47823761 [T/G] exm-rs5768001 22 48198112 [T/C] exm-rs9627183 22 48284514 [A/G] exm2255257 22 48526700 [A/G] exm2273068 22 48843119 [T/C] exm-rs133501 22 48912283 [T/C] NM_001082967 FAM19A5 Silent exm1619487 22 48972321 [T/C] NM_001082967,NM_015381 FAM19A5,FAM19A5 EXON Silent,Missense_L10P exm1619493 22 48972369 [A/G] NM_001082967,NM_015381 FAM19A5,FAM19A5 EXON Silent,Missense_Q26R exm2273047 22 49096694 [T/C] NM_001082967,NM_015381 FAM19A5,FAM19A5 Silent,Silent exm1619506 22 49103591 [A/G] NM_001082967,NM_015381 FAM19A5,FAM19A5 EXON Missense_D109N,Missense_D102N exm2273048 22 49665841 [T/C] exm2273049 22 49911222 [T/G] exm2273069 22 49928018 [T/C] exm-rs5770651 22 50077531 [A/G] exm2255261 22 50169346 [C/G] NM_014577 BRD1 EXON Synonymous_V962V exm1619580 22 50169762 [A/G] NM_014577 BRD1 EXON Missense_S925L exm1619603 22 50181050 [A/G] NM_014577 BRD1 EXON Missense_R818C exm1619605 22 50181065 [A/C] NM_014577 BRD1 EXON Nonsense_E813X exm1619612 22 50187715 [T/C] NM_014577 BRD1 EXON Missense_G776R exm1619616 22 50187747 [A/G] NM_014577 BRD1 EXON Missense_T765M exm1619618 22 50187757 [A/G] NM_014577 BRD1 EXON Missense_P762S exm1619625 22 50191474 [A/G] NM_014577 BRD1 EXON Missense_R693W exm2235904 22 50191485 [A/G] NM_014577 BRD1 EXON Missense_A689V exm2235905 22 50216639 [T/C] NM_014577 BRD1 EXON Missense_V443I exm1619659 22 50216641 [A/G] NM_014577 BRD1 EXON Missense_A442V exm1619660 22 50216725 [T/C] NM_014577 BRD1 EXON Missense_E414G exm1619664 22 50216758 [T/C] NM_014577 BRD1 EXON Missense_D403G exm1619708 22 50217649 [G/C] NM_014577 BRD1 EXON Missense_S106T exm1619725 22 50277333 [T/G] NM_014838 ZBED4 EXON Missense_C8F exm1619727 22 50277352 [T/G] NM_014838 ZBED4 EXON Missense_D14E exm1619734 22 50277473 [A/G] NM_014838 ZBED4 EXON Missense_G55S exm1619736 22 50277485 [C/G] NM_014838 ZBED4 EXON Missense_A59P exm1619740 22 50277494 [A/G] NM_014838 ZBED4 EXON Missense_G62S exm1619748 22 50277639 [A/G] NM_014838 ZBED4 EXON Missense_R110Q exm1619769 22 50278031 [A/G] NM_014838 ZBED4 EXON Missense_V241I exm1619782 22 50278325 [A/G] NM_014838 ZBED4 EXON Missense_V339M exm1619786 22 50278356 [C/G] NM_014838 ZBED4 EXON Missense_P349R exm1619790 22 50278404 [T/C] NM_014838 ZBED4 EXON Missense_P365L exm1619795 22 50278446 [T/C] NM_014838 ZBED4 EXON Missense_P379L exm1619802 22 50278541 [A/G] NM_014838 ZBED4 EXON Missense_V411M exm1619805 22 50278568 [A/G] NM_014838 ZBED4 EXON Missense_I420V exm1619806 22 50278581 [T/C] NM_014838 ZBED4 EXON Missense_S424L exm1619807 22 50278584 [T/C] NM_014838 ZBED4 EXON Missense_A425V exm1619815 22 50278755 [T/G] NM_014838 ZBED4 EXON Missense_C482F exm1619834 22 50279061 [A/G] NM_014838 ZBED4 EXON Missense_R584Q exm1619847 22 50279184 [T/C] NM_014838 ZBED4 EXON Missense_P625L exm1619849 22 50279192 [T/C] NM_014838 ZBED4 EXON Missense_R628W exm1619850 22 50279193 [A/G] NM_014838 ZBED4 EXON Missense_R628Q exm1619860 22 50279550 [T/C] NM_014838 ZBED4 EXON Missense_T747M exm1619864 22 50279586 [T/C] NM_014838 ZBED4 EXON Missense_P759L exm2016451 22 50279628 [T/C] NM_014838 ZBED4 EXON Missense_S773L exm1619869 22 50279642 [A/G] NM_014838 ZBED4 EXON Missense_D778N exm1619877 22 50279750 [A/G] NM_014838 ZBED4 EXON Missense_G814R exm1619890 22 50279943 [T/C] NM_014838 ZBED4 EXON Missense_A878V exm1619899 22 50280114 [A/G] NM_014838 ZBED4 EXON Missense_R935H exm2235907 22 50280188 [A/C] NM_014838 ZBED4 EXON Missense_M960L exm1619942 22 50280759 [T/C] NM_014838 ZBED4 EXON Missense_M1150T exm1619950 22 50297526 [C/G] NM_024105 ALG12 EXON Missense_T476R exm1619956 22 50297608 [A/G] NM_024105 ALG12 EXON Missense_R449W exm1619961 22 50297714 [C/G] NM_024105 ALG12 EXON Missense_R413S exm1619965 22 50297888 [T/C] NM_024105 ALG12 EXON Missense_I393V exm1619994 22 50302962 [T/C] NM_024105 ALG12 EXON Missense_R233Q exm1619995 22 50302995 [C/G] NM_024105 ALG12 EXON Missense_G222A exm1620000 22 50303554 [T/C] NM_024105 ALG12 EXON Missense_I218V exm1620002 22 50303575 [A/G] NM_024105 ALG12 EXON Missense_R211C exm1620011 22 50304114 [T/C] NM_024105 ALG12 EXON Missense_R146Q exm2016505 22 50304150 [A/G] NM_024105 ALG12 EXON Missense_T134M exm2276778 22 50304166 [T/C] NM_024105 ALG12 EXON Missense_M129V exm1620016 22 50304192 [T/C] NM_024105 ALG12 EXON Missense_R120Q exm1620017 22 50304232 [T/C] NM_024105 ALG12 EXON Missense_V107M exm1620025 22 50307086 [A/G] NM_024105 ALG12 EXON Missense_A81V exm2016509 22 50307162 [T/C] NM_024105 ALG12 EXON Missense_D56N exm1620035 22 50307359 [T/C] NM_024105 ALG12 EXON Missense_A19T exm1620039 22 50307386 [A/G] NM_024105 ALG12 EXON Missense_R10W exm1620048 22 50312877 [T/G] NM_024324,NM_001135101 CRELD2,CRELD2 Silent,Silent exm1620056 22 50313441 [G/C] NM_024324,NM_001135101 CRELD2,CRELD2 EXON Missense_Q92H,Missense_Q92H exm1620057 22 50313452 [T/C] NM_024324,NM_001135101 CRELD2,CRELD2 EXON Missense_A96V,Missense_A96V exm1620058 22 50313465 [A/C] NM_024324,NM_001135101 CRELD2,CRELD2 EXON Missense_H100Q,Missense_H100Q exm1620075 22 50315361 [A/G] NM_024324,NM_001135101 CRELD2,CRELD2 EXON Missense_D182N,Missense_D182N exm1620076 22 50315363 [A/C] NM_024324,NM_001135101 CRELD2,CRELD2 EXON Missense_D182E,Missense_D182E exm1620078 22 50315382 [C/G] NM_024324,NM_001135101 CRELD2,CRELD2 EXON Missense_R189G,Missense_R189G exm2016532 22 50316007 [A/G] NM_024324,NM_001135101 CRELD2,CRELD2 EXON Silent,Missense_V219M exm1620096 22 50316073 [A/G] NM_024324,NM_001135101 CRELD2,CRELD2 EXON Silent,Missense_I241V exm1620102 22 50316301 [A/G] NM_024324,NM_001135101 CRELD2,CRELD2 EXON Missense_R212G,Missense_R261G exm1620106 22 50316902 [A/G] NM_024324,NM_001135101 CRELD2,CRELD2 EXON Missense_E237K,Missense_E286K exm1620107 22 50316906 [T/C] NM_024324,NM_001135101 CRELD2,CRELD2 EXON Missense_P238L,Missense_P287L exm1620115 22 50316957 [T/C] NM_024324,NM_001135101 CRELD2,CRELD2 EXON Missense_T255M,Missense_T304M exm1620123 22 50318061 [C/G] NM_024324,NM_001135101 CRELD2,CRELD2 EXON Missense_E276Q,Missense_E325Q exm1620131 22 50319079 [T/G] NM_024324,NM_001135101 CRELD2,CRELD2 EXON Missense_S295A,Missense_S344A exm1620139 22 50319170 [A/G] NM_024324,NM_001135101 CRELD2,CRELD2 EXON Missense_E325G,Missense_E374G exm2016545 22 50319193 [T/C] NM_024324,NM_001135101 CRELD2,CRELD2 EXON Missense_P333S,Missense_P382S exm1620147 22 50320921 [A/G] NM_024324,NM_001135101 CRELD2,CRELD2 EXON Missense_S343N,Missense_S392N exm-rs28372448 22 50350971 [A/G] exm1620160 22 50354783 [G/C] NM_001001852 PIM3 EXON Missense_D32E exm1620180 22 50356432 [A/T] NM_001001852 PIM3 EXON Missense_M238L exm1620193 22 50356693 [T/C] NM_001001852 PIM3 EXON Missense_V300A exm1620196 22 50356731 [T/C] NM_001001852 PIM3 EXON Missense_P313S exm1620201 22 50435480 [A/G] NM_001001694 IL17REL EXON Missense_L333P exm1620202 22 50435489 [A/G] NM_001001694 IL17REL EXON Missense_P330L exm1620206 22 50435764 [T/C] NM_001001694 IL17REL EXON Missense_R320H exm1620211 22 50435827 [T/C] NM_001001694 IL17REL EXON Missense_C299Y exm1620212 22 50435842 [A/G] NM_001001694 IL17REL EXON Missense_P294L exm1620216 22 50436143 [T/C] NM_001001694 IL17REL EXON Missense_R283Q exm1620221 22 50436488 [A/G] NM_001001694 IL17REL EXON Missense_P262L exm1620230 22 50436627 [T/C] NM_001001694 IL17REL EXON Missense_R238H exm1620246 22 50438279 [T/C] NM_001001694 IL17REL EXON Missense_E151G exm2016613 22 50438379 [A/C] NM_001001694 IL17REL EXON Missense_W118G exm1620265 22 50439194 [T/C] NM_001001694 IL17REL EXON Missense_G70R exm2264739 22 50482126 [A/C] exm1620458 22 50502491 [T/C] NM_139202,NM_015166 MLC1,MLC1 EXON Missense_N344S,Missense_N344S exm1620460 22 50502514 [A/C] NM_139202,NM_015166 MLC1,MLC1 EXON Missense_Q336H,Missense_Q336H exm1620462 22 50502539 [T/C] NM_139202,NM_015166 MLC1,MLC1 EXON Missense_R328H,Missense_R328H exm1620466 22 50502573 [T/C] NM_139202,NM_015166 MLC1,MLC1 EXON Missense_G317S,Missense_G317S exm1620480 22 50506978 [C/G] NM_139202,NM_015166 MLC1,MLC1 EXON Missense_V260L,Missense_V260L exm1620489 22 50512705 [T/G] NM_139202,NM_015166 MLC1,MLC1 EXON Missense_N218K,Missense_N218K exm1620494 22 50512758 [T/C] NM_139202,NM_015166 MLC1,MLC1 EXON Missense_V201I,Missense_V201I exm1620496 22 50515270 [T/C] NM_139202,NM_015166 MLC1,MLC1 EXON Synonymous_S199S,Synonymous_S199S exm1620500 22 50515306 [T/G] NM_139202,NM_015166 MLC1,MLC1 EXON Missense_E187D,Missense_E187D exm1620517 22 50521550 [A/G] NM_139202,NM_015166 MLC1,MLC1 EXON Missense_P77L,Missense_P77L exm1620525 22 50523231 [A/G] NM_139202,NM_015166 MLC1,MLC1 EXON Missense_P34L,Missense_P34L exm2235917 22 50523237 [A/G] NM_139202,NM_015166 MLC1,MLC1 EXON Missense_A32V,Missense_A32V exm2016722 22 50523256 [T/C] NM_139202,NM_015166 MLC1,MLC1 EXON Missense_A26T,Missense_A26T exm2016723 22 50523267 [T/C] NM_139202,NM_015166 MLC1,MLC1 EXON Missense_R22Q,Missense_R22Q exm1620535 22 50528569 [A/T] NM_018995,NM_001164104 MOV10L1,MOV10L1 EXON Missense_T18S,Missense_T18S exm1620547 22 50530501 [A/T] NM_018995,NM_001164104,NM_001164105 MOV10L1,MOV10L1,MOV10L1 EXON Missense_M57L,Missense_M57L,Missense_M37L exm1620553 22 50537888 [A/G] NM_018995,NM_001164104,NM_001164105 MOV10L1,MOV10L1,MOV10L1 EXON Missense_D100G,Missense_D100G,Missense_D80G exm1620561 22 50537980 [A/G] NM_018995,NM_001164104,NM_001164105 MOV10L1,MOV10L1,MOV10L1 EXON Missense_A131T,Missense_A131T,Missense_A111T exm1620567 22 50546612 [T/C] NM_018995,NM_001164104,NM_001164105 MOV10L1,MOV10L1,MOV10L1 EXON Missense_R164W,Missense_R164W,Missense_R144W exm1620570 22 50546622 [T/C] NM_018995,NM_001164104,NM_001164105 MOV10L1,MOV10L1,MOV10L1 EXON Missense_T167M,Missense_T167M,Missense_T147M exm1620572 22 50546633 [A/G] NM_018995,NM_001164104,NM_001164105 MOV10L1,MOV10L1,MOV10L1 EXON Missense_E171K,Missense_E171K,Missense_E151K exm1620574 22 50546666 [T/C] NM_018995,NM_001164104,NM_001164105 MOV10L1,MOV10L1,MOV10L1 EXON Missense_R182C,Missense_R182C,Missense_R162C exm1620580 22 50547183 [A/G] NM_018995,NM_001164104,NM_001164105 MOV10L1,MOV10L1,MOV10L1 EXON Missense_R218Q,Missense_R218Q,Missense_R198Q exm1620596 22 50552171 [A/G] NM_018995,NM_001164104,NM_001164105 MOV10L1,MOV10L1,MOV10L1 EXON Missense_G280R,Missense_G280R,Missense_G260R exm1620602 22 50552916 [A/G] NM_018995,NM_001164104,NM_001164105 MOV10L1,MOV10L1,MOV10L1 EXON Missense_V331M,Missense_V331M,Missense_V311M exm1620606 22 50553013 [T/C] NM_018995,NM_001164104,NM_001164105 MOV10L1,MOV10L1,MOV10L1 EXON Missense_S363L,Missense_S363L,Missense_S343L exm1620607 22 50553033 [A/G] NM_018995,NM_001164104,NM_001164105 MOV10L1,MOV10L1,MOV10L1 EXON Missense_N370D,Missense_N370D,Missense_N350D exm1620622 22 50555686 [A/C] NM_018995,NM_001164104,NM_001164105 MOV10L1,MOV10L1,MOV10L1 EXON Missense_I454L,Missense_I454L,Missense_I434L exm1620627 22 50555770 [T/G] NM_018995,NM_001164104,NM_001164105 MOV10L1,MOV10L1,MOV10L1 EXON Missense_A482S,Missense_A482S,Missense_A462S exm1620630 22 50558941 [T/C] NM_018995,NM_001164104,NM_001164105 MOV10L1,MOV10L1,MOV10L1 EXON Nonsense_R489X,Nonsense_R489X,Nonsense_R469X exm2016757 22 50559010 [A/C] NM_018995,NM_001164104,NM_001164105 MOV10L1,MOV10L1,MOV10L1 EXON Missense_I512L,Missense_I512L,Missense_I492L exm1620635 22 50559026 [T/C] NM_018995,NM_001164104,NM_001164105 MOV10L1,MOV10L1,MOV10L1 EXON Missense_F517S,Missense_F517S,Missense_F497S exm1620644 22 50563989 [G/C] NM_018995,NM_001164104,NM_001164105 MOV10L1,MOV10L1,MOV10L1 EXON Missense_L580V,Missense_L580V,Missense_L560V exm1620652 22 50566849 [A/G] NM_018995,NM_001164104,NM_001164105 MOV10L1,MOV10L1,MOV10L1 EXON Missense_H608R,Missense_H608R,Missense_H588R exm1620653 22 50566890 [A/C] NM_018995,NM_001164104,NM_001164105 MOV10L1,MOV10L1,MOV10L1 EXON Missense_Q622K,Missense_Q622K,Missense_Q602K exm1620660 22 50572473 [A/G] NM_018995,NM_001164104,NM_001164105 MOV10L1,MOV10L1,MOV10L1 EXON Missense_V650I,Missense_V650I,Missense_V630I exm1620673 22 50580589 [T/C] NM_018995,NM_001164104,NM_001164105 MOV10L1,MOV10L1,MOV10L1 EXON Missense_A717V,Missense_A717V,Missense_A697V exm1620684 22 50582575 [A/G] NM_018995,NM_001164104,NM_001164105 MOV10L1,MOV10L1,MOV10L1 EXON Missense_N803S,Missense_N803S,Missense_N783S exm1620692 22 50582626 [A/G] NM_018995,NM_001164104,NM_001164105 MOV10L1,MOV10L1,MOV10L1 EXON Missense_Q820R,Missense_Q820R,Missense_Q800R exm1620696 22 50584130 [A/G] NM_018995,NM_001164104,NM_001164105 MOV10L1,MOV10L1,MOV10L1 EXON Missense_A840T,Missense_A840T,Missense_A820T exm1620699 22 50584140 [T/C] NM_018995,NM_001164104,NM_001164105 MOV10L1,MOV10L1,MOV10L1 EXON Missense_P843L,Missense_P843L,Missense_P823L exm1620701 22 50584179 [A/G] NM_018995,NM_001164104,NM_001164105 MOV10L1,MOV10L1,MOV10L1 EXON Missense_R856H,Missense_R856H,Missense_R836H exm2016803 22 50589174 [T/C] NM_018995,NM_001164104,NM_001164105,NM_001164106 MOV10L1,MOV10L1,MOV10L1,MOV10L1 EXON Missense_A913V,Missense_A913V,Missense_A893V,Missense_A40V exm1620723 22 50589218 [T/G] NM_018995,NM_001164104,NM_001164105,NM_001164106 MOV10L1,MOV10L1,MOV10L1,MOV10L1 EXON Missense_A928S,Missense_A928S,Missense_A908S,Missense_A55S exm2016804 22 50589260 [A/G] NM_018995,NM_001164104,NM_001164105,NM_001164106 MOV10L1,MOV10L1,MOV10L1,MOV10L1 EXON Missense_M942V,Missense_M942V,Missense_M922V,Missense_M69V exm1620738 22 50591521 [A/G] NM_018995,NM_001164104,NM_001164105,NM_001164106 MOV10L1,MOV10L1,MOV10L1,MOV10L1 EXON Missense_M980I,Missense_M980I,Missense_M960I,Missense_M107I exm2016813 22 50596612 [A/G] NM_018995,NM_001164104,NM_001164105,NM_001164106 MOV10L1,MOV10L1,MOV10L1,MOV10L1 EXON Missense_V1065I,Missense_V1065I,Missense_V1045I,Missense_V192I exm1620755 22 50598132 [A/G] NM_018995,NM_001164104,NM_001164105,NM_001164106 MOV10L1,MOV10L1,MOV10L1,MOV10L1 EXON Missense_R1081H,Missense_R1081H,Missense_R1061H,Missense_R208H exm1620765 22 50599253 [A/G] NM_018995,NM_001164104,NM_001164105,NM_001164106 MOV10L1,MOV10L1,MOV10L1,MOV10L1 EXON Missense_R1154Q,Silent,Missense_R1134Q,Missense_R281Q exm1620769 22 50599466 [A/C] NM_018995,NM_001164104,NM_001164105,NM_001164106 MOV10L1,MOV10L1,MOV10L1,MOV10L1 EXON Missense_A1179E,Missense_A1133E,Silent,Missense_A306E exm1620770 22 50599472 [A/G] NM_018995,NM_001164104,NM_001164105,NM_001164106 MOV10L1,MOV10L1,MOV10L1,MOV10L1 EXON Missense_Q1181R,Missense_Q1135R,Silent,Missense_Q308R exm1620810 22 50616267 [A/G] NM_001160300,NR_027691,NM_052839 PANX2,PANX2,PANX2 EXON Missense_D376N,Silent,Missense_D376N exm1620822 22 50616483 [T/G] NM_001160300,NR_027691,NM_052839 PANX2,PANX2,PANX2 EXON Missense_A448S,Silent,Missense_A448S exm1620836 22 50617395 [T/C] NM_001160300,NR_027691,NM_052839 PANX2,PANX2,PANX2 EXON Missense_P575S,Silent,Missense_P575S exm1620847 22 50617606 [T/C] NM_001160300,NR_027691,NM_052839 PANX2,PANX2,PANX2 EXON Silent,Silent,Missense_P645L exm1620858 22 50632045 [T/C] NM_025204 TRABD EXON Missense_P25L exm1620861 22 50632055 [G/C] NM_025204 TRABD EXON Missense_R28S exm1620862 22 50632771 [A/G] NM_025204 TRABD EXON Missense_D39N exm1620871 22 50632912 [A/G] NM_025204 TRABD EXON Missense_D86N exm1620898 22 50636361 [A/G] NM_025204 TRABD EXON Missense_V261I exm1620924 22 50636916 [A/C] NM_025204 TRABD EXON Missense_L367M exm1620946 22 50644783 [T/C] NM_031454 SELO EXON Missense_R198W exm1620949 22 50644834 [T/C] NM_031454 SELO EXON Missense_R215W exm1620967 22 50647012 [A/G] NM_031454 SELO EXON Missense_R269H exm1620970 22 50647038 [A/G] NM_031454 SELO EXON Missense_D278N exm1620972 22 50647086 [A/G] NM_031454 SELO EXON Missense_E294K exm1620975 22 50647098 [A/G] NM_031454 SELO EXON Missense_A298T exm1620993 22 50649061 [T/G] NM_031454 SELO EXON Missense_Y358D exm1621004 22 50649173 [T/C] NM_031454 SELO EXON Missense_P395L exm1621006 22 50649223 [C/G] NM_031454 SELO EXON Missense_A412P exm1621029 22 50654298 [T/G] NM_031454 SELO Silent exm1621032 22 50655169 [A/G] NM_031454 SELO EXON Missense_A518T exm1621058 22 50655468 [A/G] NM_031454 SELO EXON Missense_V586M exm1621068 22 50655528 [A/G] NM_031454 SELO EXON Missense_E606K exm1621069 22 50655537 [A/G] NM_031454 SELO EXON Missense_E609K exm1621071 22 50655541 [A/G] NM_031454 SELO EXON Missense_R610H exm1621072 22 50655543 [A/G] NM_031454 SELO EXON Missense_G611R exm1621081 22 50655676 [A/G] NM_031454 SELO EXON Missense_E630K exm1621084 22 50655700 [A/G] NM_031454 SELO EXON Missense_E638K exm1621088 22 50655722 [T/C] NM_031454 SELO EXON Missense_A645V exm1621091 22 50655737 [A/G] NM_031454 SELO EXON Missense_R650H exm1621095 22 50655781 [A/G] NM_031454 SELO EXON Missense_V665M exm1621108 22 50656236 [A/G] NM_020461 TUBGCP6 EXON Missense_R1797C exm1621120 22 50656485 [T/C] NM_020461 TUBGCP6 EXON Missense_V1744M exm1621125 22 50656523 [A/G] NM_020461 TUBGCP6 EXON Missense_A1731V exm1621135 22 50656736 [T/C] NM_020461 TUBGCP6 EXON Missense_I1684V exm2016957 22 50656773 [A/G] NM_020461 TUBGCP6 EXON Synonymous_H1671H exm1621146 22 50657010 [C/G] NM_020461 TUBGCP6 EXON Missense_V1621L exm1621153 22 50657206 [T/C] NM_020461 TUBGCP6 EXON Missense_A1583T exm1621162 22 50657310 [A/G] NM_020461 TUBGCP6 EXON Missense_T1548M exm2016968 22 50657616 [T/C] NM_020461 TUBGCP6 EXON Missense_A1503T exm1621181 22 50657844 [A/G] NM_020461 TUBGCP6 EXON Missense_R1453W exm1621194 22 50658075 [A/G] NM_020461 TUBGCP6 EXON Missense_M1438T exm1621195 22 50658082 [T/C] NM_020461 TUBGCP6 EXON Missense_E1436K exm1621199 22 50658135 [T/G] NM_020461 TUBGCP6 EXON Missense_Y1418S exm1621207 22 50658424 [T/C] NM_020461 TUBGCP6 EXON Missense_T1377A exm1621209 22 50658442 [A/G] NM_020461 TUBGCP6 EXON Missense_P1371S exm2235929 22 50658686 [T/C] NM_020461 TUBGCP6 EXON Missense_E1368K exm1621216 22 50658695 [C/G] NM_020461 TUBGCP6 EXON Missense_V1365L exm1621217 22 50658698 [A/T] NM_020461 TUBGCP6 EXON Missense_S1364C exm1621224 22 50658791 [T/G] NM_020461 TUBGCP6 EXON Missense_S1333R exm1621253 22 50659094 [T/C] NM_020461 TUBGCP6 EXON Missense_V1232M exm1621255 22 50659099 [A/G] NM_020461 TUBGCP6 EXON Missense_S1230L exm1621260 22 50659157 [A/G] NM_020461 TUBGCP6 EXON Missense_R1211W exm1621277 22 50659379 [T/C] NM_020461 TUBGCP6 EXON Missense_V1137M exm1621282 22 50659399 [A/C] NM_020461 TUBGCP6 EXON Missense_R1130L exm1621286 22 50659481 [A/G] NM_020461 TUBGCP6 EXON Missense_R1103W exm1621294 22 50659595 [T/C] NM_020461 TUBGCP6 EXON Missense_E1065K exm1621301 22 50659648 [T/C] NM_020461 TUBGCP6 EXON Missense_R1047Q exm1621313 22 50659790 [A/G] NM_020461 TUBGCP6 EXON Missense_R1000W exm2235932 22 50659874 [C/G] NM_020461 TUBGCP6 EXON Missense_A972P exm1621326 22 50660137 [A/G] NM_020461 TUBGCP6 EXON Missense_A884V exm2017001 22 50660214 [C/G] NM_020461 TUBGCP6 EXON Missense_W858C exm1621354 22 50662633 [T/C] NM_020461 TUBGCP6 EXON Missense_R736H exm1621359 22 50662682 [A/G] NM_020461 TUBGCP6 EXON Missense_R720C exm1621372 22 50663015 [A/G] NM_020461 TUBGCP6 EXON Missense_R664C exm1621383 22 50664351 [T/C] NM_020461 TUBGCP6 EXON Missense_V619I exm1621397 22 50664612 [A/G] NM_020461 TUBGCP6 EXON Missense_L567S exm1621405 22 50664797 [T/C] NM_020461 TUBGCP6 EXON Missense_D538N exm1621407 22 50665163 [A/G] NM_020461 TUBGCP6 EXON Missense_R534W exm1621408 22 50665175 [T/C] NM_020461 TUBGCP6 EXON Missense_E530K exm1621409 22 50665217 [T/C] NM_020461 TUBGCP6 EXON Missense_E516K exm1621432 22 50667861 [A/G] NM_020461 TUBGCP6 EXON Missense_S421F exm1621445 22 50668005 [A/G] NM_020461 TUBGCP6 EXON Missense_P373L exm1621462 22 50671923 [A/G] NM_020461 TUBGCP6 EXON Missense_T313M exm2017058 22 50678643 [A/G] NM_020461 TUBGCP6 EXON Nonsense_R299X exm2017060 22 50678739 [T/A] NM_020461 TUBGCP6 EXON Missense_T267S exm1621480 22 50682300 [A/G] NM_020461 TUBGCP6 EXON Missense_S197P exm1621485 22 50682351 [T/G] NM_020461 TUBGCP6 EXON Missense_Q180K exm2017067 22 50682361 [G/C] NM_020461 TUBGCP6 EXON Missense_Q176H exm1621488 22 50682446 [T/C] NM_020461 TUBGCP6 EXON Missense_Y148C exm1621490 22 50682578 [A/G] NM_020461 TUBGCP6 EXON Missense_L104P exm1621496 22 50682728 [C/G] NM_020461 TUBGCP6 EXON Missense_T54S exm1621500 22 50682785 [T/C] NM_020461 TUBGCP6 EXON Missense_R35Q exm1621501 22 50682800 [T/C] NM_020461 TUBGCP6 EXON Missense_R30Q exm1621504 22 50682879 [T/C] NM_020461 TUBGCP6 EXON Missense_I4V exm1621529 22 50684515 [T/C] NM_001159286,NM_032019 HDAC10,HDAC10 EXON Missense_G533S,Missense_G553S exm1621533 22 50684747 [T/C] NM_001159286,NM_032019 HDAC10,HDAC10 EXON Missense_V524I,Missense_V544I exm1621534 22 50684771 [T/C] NM_001159286,NM_032019 HDAC10,HDAC10 EXON Missense_A516T,Missense_A536T exm2017082 22 50684772 [G/C] NM_001159286,NM_032019 HDAC10,HDAC10 EXON Missense_E515D,Missense_E535D exm2017090 22 50685303 [T/C] NM_001159286,NM_032019 HDAC10,HDAC10 Silent,Silent exm1621549 22 50685370 [A/G] NM_001159286,NM_032019 HDAC10,HDAC10 EXON Missense_P463L,Missense_P483L exm1621558 22 50686371 [T/C] NM_001159286,NM_032019 HDAC10,HDAC10 EXON Missense_V409I,Missense_V429I exm1621562 22 50686403 [A/G] NM_001159286,NM_032019 HDAC10,HDAC10 EXON Missense_T398M,Missense_T418M exm1621564 22 50686424 [A/C] NM_001159286,NM_032019 HDAC10,HDAC10 EXON Missense_R391L,Missense_R411L exm1621574 22 50686535 [T/G] NM_001159286,NM_032019 HDAC10,HDAC10 EXON Missense_P354Q,Missense_P374Q exm1621613 22 50687883 [A/G] NM_001159286,NM_032019 HDAC10,HDAC10 EXON Synonymous_S188S,Synonymous_S188S exm1621617 22 50688074 [T/C] NM_001159286,NM_032019 HDAC10,HDAC10 EXON Missense_D185N,Missense_D185N exm1621629 22 50688386 [T/C] NM_001159286,NM_032019 HDAC10,HDAC10 EXON Missense_G133R,Missense_G133R exm1621634 22 50688573 [A/G] NM_001159286,NM_032019 HDAC10,HDAC10 EXON Missense_A103V,Missense_A103V exm1621635 22 50688574 [T/C] NM_001159286,NM_032019 HDAC10,HDAC10 EXON Missense_A103T,Missense_A103T exm1621646 22 50688909 [T/C] NM_001159286,NM_032019 HDAC10,HDAC10 EXON Missense_K80E,Missense_K80E exm1621658 22 50689311 [A/G] NM_001159286,NM_032019 HDAC10,HDAC10 EXON Missense_P28L,Missense_P28L exm2275211 22 50689427 [A/G] NM_001159286,NM_032019 HDAC10,HDAC10 EXON Missense_T12M,Missense_T12M exm1621662 22 50689460 [A/G] NM_001159286,NM_032019 HDAC10,HDAC10 EXON Missense_M1T,Missense_M1T exm1621674 22 50691870 [T/C] NM_002969 MAPK12 EXON Missense_R355Q exm1621691 22 50693704 [T/C] NM_002969 MAPK12 EXON Missense_D316N exm1621707 22 50693939 [C/G] NM_002969 MAPK12 EXON Missense_L265V exm1621715 22 50694084 [A/G] NM_002969 MAPK12 EXON Missense_T244M exm1621719 22 50694239 [A/G] NM_002969 MAPK12 EXON Missense_H231Y exm1621725 22 50694529 [A/G] NM_002969 MAPK12 EXON Missense_R202C exm1621728 22 50694568 [A/G] NM_002969 MAPK12 EXON Missense_R189W exm1621733 22 50695045 [T/C] NM_002969 MAPK12 EXON Missense_E163K exm1621750 22 50695510 [T/C] NM_002969 MAPK12 Silent exm1621759 22 50696678 [A/G] NM_002969 MAPK12 EXON Missense_T103M exm1621770 22 50699625 [A/G] NM_002969 MAPK12 EXON Missense_R76C exm1621774 22 50699669 [A/G] NM_002969 MAPK12 EXON Missense_P61L exm2235941 22 50703849 [T/C] NM_002751 MAPK11 EXON Missense_A306T exm1621796 22 50704028 [T/C] NM_002751 MAPK11 EXON Missense_R275H exm1621798 22 50704655 [A/G] NM_002751 MAPK11 EXON Synonymous_H254H exm1621843 22 50708703 [T/C] NM_002751 MAPK11 EXON Missense_G7S exm2235942 22 50713409 [A/G] NM_012401 PLXNB2 EXON Silent exm1621853 22 50714320 [T/C] NM_012401 PLXNB2 EXON Missense_E1804K exm1621857 22 50714389 [A/G] NM_012401 PLXNB2 EXON Missense_H1781Y exm1621871 22 50715271 [T/C] NM_012401 PLXNB2 EXON Missense_D1754G exm1621884 22 50716167 [A/G] NM_012401 PLXNB2 EXON Synonymous_S1683S exm1621891 22 50716375 [A/G] NM_012401 PLXNB2 EXON Missense_P1652L exm2017218 22 50716612 [A/G] NM_012401 PLXNB2 EXON Synonymous_S1607S exm1621910 22 50717092 [A/G] NM_012401 PLXNB2 EXON Missense_S1527L exm1621918 22 50717397 [A/G] NM_012401 PLXNB2 EXON Missense_P1478L exm1621937 22 50719062 [A/G] NM_012401 PLXNB2 EXON Missense_A1344V exm1621940 22 50719174 [T/C] NM_012401 PLXNB2 EXON Missense_N1331S exm1621942 22 50719237 [A/G] NM_012401 PLXNB2 EXON Missense_P1310L exm1621943 22 50719238 [T/G] NM_012401 PLXNB2 EXON Missense_P1310T exm1621946 22 50719246 [A/G] NM_012401 PLXNB2 EXON Missense_P1307L exm1621952 22 50719319 [A/G] NM_012401 PLXNB2 EXON Missense_R1283C exm1621991 22 50720392 [T/C] NM_012401 PLXNB2 EXON Missense_R1079H exm1621992 22 50720408 [T/C] NM_012401 PLXNB2 EXON Missense_E1074K exm1622010 22 50721170 [T/C] NM_012401 PLXNB2 EXON Missense_R986Q exm1622011 22 50721177 [T/C] NM_012401 PLXNB2 EXON Missense_V984I exm1622012 22 50721182 [T/G] NM_012401 PLXNB2 EXON Missense_N982T exm1622014 22 50721189 [A/G] NM_012401 PLXNB2 EXON Missense_R980C exm1622016 22 50721207 [T/C] NM_012401 PLXNB2 EXON Missense_G974S exm1622023 22 50721252 [T/C] NM_012401 PLXNB2 EXON Missense_M959V exm1622029 22 50721296 [A/G] NM_012401 PLXNB2 EXON Missense_A944V exm1622033 22 50721495 [T/C] NM_012401 PLXNB2 EXON Missense_G934S exm1622040 22 50721785 [T/C] NM_012401 PLXNB2 EXON Missense_N887S exm1622042 22 50721797 [T/C] NM_012401 PLXNB2 EXON Missense_R883H exm1622043 22 50721798 [A/G] NM_012401 PLXNB2 EXON Missense_R883C exm1622047 22 50721845 [A/G] NM_012401 PLXNB2 EXON Missense_T867M exm1622054 22 50722049 [T/C] NM_012401 PLXNB2 EXON Missense_R851H exm1622056 22 50722077 [T/C] NM_012401 PLXNB2 EXON Missense_G842S exm1622060 22 50722134 [T/C] NM_012401 PLXNB2 EXON Missense_I823V exm1622063 22 50722167 [T/C] NM_012401 PLXNB2 EXON Missense_T812A exm1622064 22 50722175 [T/A] NM_012401 PLXNB2 EXON Missense_Q809L exm1622073 22 50722408 [T/C] NM_012401 PLXNB2 EXON Missense_N759D exm1622086 22 50723068 [C/G] NM_012401 PLXNB2 EXON Missense_D705E exm1622089 22 50723094 [A/C] NM_012401 PLXNB2 EXON Missense_G697C exm1622099 22 50724433 [T/C] NM_012401 PLXNB2 EXON Missense_V658I exm1622104 22 50724499 [T/G] NM_012401 PLXNB2 EXON Missense_T636P exm1622106 22 50724504 [T/C] NM_012401 PLXNB2 EXON Missense_R634H exm1622113 22 50724648 [A/G] NM_012401 PLXNB2 EXON Missense_P611S exm2235947 22 50727189 [T/C] NM_012401 PLXNB2 EXON Missense_A455T exm1622153 22 50727290 [A/G] NM_012401 PLXNB2 EXON Missense_T421I exm1622174 22 50728062 [T/C] NM_012401 PLXNB2 EXON Missense_K318E exm1622187 22 50728355 [A/G] NM_012401 PLXNB2 EXON Missense_A220V exm1622197 22 50728517 [T/C] NM_012401 PLXNB2 EXON Missense_R166H exm1622219 22 50728881 [T/C] NM_012401 PLXNB2 EXON Missense_V45M exm1622222 22 50728919 [T/G] NM_012401 PLXNB2 EXON Missense_K32T exm1622225 22 50750573 [A/G] NM_001001794 DENND6B EXON Missense_P585S exm1622236 22 50750832 [T/C] NM_001001794 DENND6B EXON Nonsense_W525X exm1622247 22 50751528 [C/G] NM_001001794 DENND6B EXON Missense_Q453E exm2017345 22 50752105 [A/G] NM_001001794 DENND6B EXON Missense_R418W exm1622255 22 50752107 [T/C] NM_001001794 DENND6B EXON Missense_R417Q exm1622259 22 50752150 [T/C] NM_001001794 DENND6B EXON Missense_V403M exm1622279 22 50753069 [A/G] NM_001001794 DENND6B EXON Synonymous_S314S exm1622297 22 50754477 [A/G] NM_001001794 DENND6B EXON Missense_P227S exm1622301 22 50754507 [A/G] NM_001001794 DENND6B EXON Missense_P217S exm1622302 22 50754512 [T/C] NM_001001794 DENND6B EXON Missense_R215H exm1622334 22 50845173 [T/C] NM_014678,NM_001242900,NM_001242898,NM_001242899 PPP6R2,PPP6R2,PPP6R2,PPP6R2 EXON Missense_R95C,Missense_R95C,Missense_R95C,Missense_R95C exm1622337 22 50845251 [A/G] NM_014678,NM_001242900,NM_001242898,NM_001242899 PPP6R2,PPP6R2,PPP6R2,PPP6R2 EXON Missense_A121T,Missense_A121T,Missense_A121T,Missense_A121T exm1622347 22 50853089 [T/C] NM_014678,NM_001242900,NM_001242898,NM_001242899 PPP6R2,PPP6R2,PPP6R2,PPP6R2 EXON Missense_P175S,Missense_P175S,Missense_P175S,Missense_P175S exm1622349 22 50853095 [A/G] NM_014678,NM_001242900,NM_001242898,NM_001242899 PPP6R2,PPP6R2,PPP6R2,PPP6R2 EXON Missense_G177R,Missense_G177R,Missense_G177R,Missense_G177R exm1622360 22 50857824 [T/C] NM_014678,NM_001242900,NM_001242898,NM_001242899 PPP6R2,PPP6R2,PPP6R2,PPP6R2 EXON Missense_R260W,Missense_R260W,Missense_R260W,Missense_R261W exm1622361 22 50857825 [A/G] NM_014678,NM_001242900,NM_001242898,NM_001242899 PPP6R2,PPP6R2,PPP6R2,PPP6R2 EXON Missense_R260Q,Missense_R260Q,Missense_R260Q,Missense_R261Q exm1622362 22 50857832 [T/G] NM_014678,NM_001242900,NM_001242898,NM_001242899 PPP6R2,PPP6R2,PPP6R2,PPP6R2 EXON Missense_E262D,Missense_E262D,Missense_E262D,Missense_E263D exm1622364 22 50857842 [A/G] NM_014678,NM_001242900,NM_001242898,NM_001242899 PPP6R2,PPP6R2,PPP6R2,PPP6R2 EXON Missense_V266I,Missense_V266I,Missense_V266I,Missense_V267I exm1622366 22 50857885 [A/G] NM_014678,NM_001242900,NM_001242898,NM_001242899 PPP6R2,PPP6R2,PPP6R2,PPP6R2 EXON Missense_R280Q,Missense_R280Q,Missense_R280Q,Missense_R281Q exm1622372 22 50861913 [T/C] NM_014678,NM_001242900,NM_001242898,NM_001242899 PPP6R2,PPP6R2,PPP6R2,PPP6R2 EXON Missense_I332T,Missense_I332T,Missense_I332T,Missense_I333T exm1622387 22 50869761 [A/G] NM_014678,NM_001242900,NM_001242898,NM_001242899 PPP6R2,PPP6R2,PPP6R2,PPP6R2 EXON Missense_E429K,Missense_E429K,Missense_E429K,Missense_E430K exm1622389 22 50869779 [A/G] NM_014678,NM_001242900,NM_001242898,NM_001242899 PPP6R2,PPP6R2,PPP6R2,PPP6R2 EXON Missense_A435T,Missense_A435T,Missense_A435T,Missense_A436T exm1622399 22 50873415 [A/G] NM_014678,NM_001242900,NM_001242898,NM_001242899 PPP6R2,PPP6R2,PPP6R2,PPP6R2 EXON Missense_R474H,Missense_R474H,Missense_R474H,Missense_R475H exm1622403 22 50873451 [T/C] NM_014678,NM_001242900,NM_001242898,NM_001242899 PPP6R2,PPP6R2,PPP6R2,PPP6R2 EXON Missense_A486V,Missense_A486V,Missense_A486V,Missense_A487V exm1622409 22 50873497 [T/C] NM_014678,NM_001242900,NM_001242898,NM_001242899 PPP6R2,PPP6R2,PPP6R2,PPP6R2 EXON Synonymous_S501S,Synonymous_S501S,Synonymous_S501S,Synonymous_S502S exm1622438 22 50876662 [T/G] NM_014678,NM_001242900,NM_001242898,NM_001242899 PPP6R2,PPP6R2,PPP6R2,PPP6R2 EXON Missense_D606E,Missense_D606E,Missense_D633E,Missense_D607E exm1622444 22 50877037 [T/C] NM_014678,NM_001242900,NM_001242898,NM_001242899 PPP6R2,PPP6R2,PPP6R2,PPP6R2 EXON Synonymous_A631A,Synonymous_A631A,Synonymous_A658A,Synonymous_A632A exm1622448 22 50877144 [T/C] NM_014678,NM_001242900,NM_001242898,NM_001242899 PPP6R2,PPP6R2,PPP6R2,PPP6R2 EXON Missense_P667L,Missense_P667L,Missense_P694L,Missense_P668L exm1622457 22 50878172 [T/C] NM_014678,NM_001242900,NM_001242898,NM_001242899 PPP6R2,PPP6R2,PPP6R2,PPP6R2 EXON Missense_T697M,Missense_T698M,Missense_T724M,Missense_T698M exm1622469 22 50878449 [A/G] NM_014678,NM_001242900,NM_001242898,NM_001242899 PPP6R2,PPP6R2,PPP6R2,PPP6R2 EXON Missense_G755D,Missense_G756D,Missense_G782D,Missense_G756D exm2017451 22 50879373 [C/G] NM_014678,NM_001242900,NM_001242898,NM_001242899 PPP6R2,PPP6R2,PPP6R2,PPP6R2 EXON Missense_A806P,Missense_A807P,Missense_A833P,Missense_A807P exm1622487 22 50882299 [A/G] NM_014678,NM_001242900,NM_001242898,NM_001242899 PPP6R2,PPP6R2,PPP6R2,PPP6R2 EXON Missense_G835R,Missense_G836R,Missense_G862R,Missense_G836R exm1622491 22 50882338 [A/G] NM_014678,NM_001242900,NM_001242898,NM_001242899 PPP6R2,PPP6R2,PPP6R2,PPP6R2 EXON Missense_A848T,Missense_A849T,Missense_A875T,Missense_A849T exm1622495 22 50882385 [A/G] NM_014678,NM_001242900,NM_001242898,NM_001242899 PPP6R2,PPP6R2,PPP6R2,PPP6R2 EXON Synonymous_E863E,Synonymous_E864E,Synonymous_E890E,Synonymous_E864E exm1622508 22 50882643 [A/G] NM_014678,NM_001242900,NM_001242898,NM_001242899 PPP6R2,PPP6R2,PPP6R2,PPP6R2 EXON Synonymous_P922P,Missense_R922H,Synonymous_P949P,Synonymous_P923P exm1622524 22 50885623 [A/G] NM_002972 SBF1 EXON Missense_P1877L exm1622535 22 50885795 [T/C] NM_002972 SBF1 EXON Missense_T1847A exm1622562 22 50886873 [T/C] NM_002972 SBF1 EXON Missense_G1718S exm1622567 22 50887037 [A/G] NM_002972 SBF1 EXON Missense_R1696C exm1622584 22 50893287 [T/C] NM_002972 SBF1 EXON Missense_T1590A exm2235958 22 50893302 [A/G] NM_002972 SBF1 EXON Missense_R1585W exm1622595 22 50893514 [T/C] NM_002972 SBF1 EXON Missense_G1538S exm1622606 22 50893795 [A/G] NM_002972 SBF1 EXON Missense_T1471M exm1622622 22 50894757 [A/C] NM_002972 SBF1 EXON Missense_V1385G exm1622637 22 50895067 [T/C] NM_002972 SBF1 EXON Missense_S1314G exm1622639 22 50895085 [A/G] NM_002972 SBF1 EXON Missense_R1308W exm1622653 22 50897714 [T/C] NM_002972 SBF1 EXON Missense_G1266S exm1622668 22 50897911 [T/C] NM_002972 SBF1 EXON Missense_A1226T exm1622671 22 50897933 [A/G] NM_002972 SBF1 EXON Synonymous_V1218V exm1622697 22 50898585 [A/G] NM_002972 SBF1 EXON Missense_S1096L exm1622705 22 50898793 [T/C] NM_002972 SBF1 EXON Missense_G1064E exm1622708 22 50898827 [A/G] NM_002972 SBF1 EXON Missense_R1053W exm1622728 22 50900006 [T/C] NM_002972 SBF1 EXON Missense_V929I exm1622741 22 50900141 [C/G] NM_002972 SBF1 EXON Missense_L884V exm1622745 22 50900263 [T/C] NM_002972 SBF1 EXON Missense_V869M exm1622765 22 50900775 [A/G] NM_002972 SBF1 EXON Missense_T752M exm1622791 22 50901349 [C/G] NM_002972 SBF1 EXON Missense_E640Q exm1622815 22 50903029 [A/T] NM_002972 SBF1 EXON Missense_M524L exm1622826 22 50903253 [T/C] NM_002972 SBF1 EXON Missense_K476E exm1622830 22 50903280 [T/C] NM_002972 SBF1 EXON Missense_V467I exm2017541 22 50903294 [T/C] NM_002972 SBF1 EXON Missense_R462H exm1622840 22 50903450 [A/G] NM_002972 SBF1 EXON Missense_P438S exm1622856 22 50904223 [A/G] NM_002972 SBF1 EXON Missense_P353L exm1622865 22 50904467 [T/C] NM_002972 SBF1 EXON Missense_V312I exm1622869 22 50904608 [T/C] NM_002972 SBF1 EXON Missense_A290T exm1622876 22 50904828 [G/C] NM_002972 SBF1 EXON Missense_A247P exm1622932 22 50921022 [A/G] NM_024866,NM_001253845 ADM2,ADM2 EXON Missense_S46N,Missense_S46N exm1622933 22 50921052 [A/G] NM_024866,NM_001253845 ADM2,ADM2 EXON Missense_R56Q,Missense_R56Q exm1622940 22 50921119 [A/G] NM_024866,NM_001253845 ADM2,ADM2 EXON Missense_M78I,Missense_M78I exm2017565 22 50921132 [A/C] NM_024866,NM_001253845 ADM2,ADM2 EXON Synonymous_R83R,Synonymous_R83R exm1622942 22 50921163 [A/G] NM_024866,NM_001253845 ADM2,ADM2 EXON Missense_R93Q,Missense_R93Q exm1622947 22 50921198 [T/C] NM_024866,NM_001253845 ADM2,ADM2 EXON Missense_L105F,Missense_L105F exm1622952 22 50921274 [T/C] NM_024866,NM_001253845 ADM2,ADM2 EXON Missense_P130L,Missense_P130L exm1622958 22 50921305 [A/C] NM_024866,NM_001253845 ADM2,ADM2 EXON Missense_D140E,Missense_D140E exm1622971 22 50925884 [A/G] NM_017584 MIOX EXON Missense_R29Q exm1622973 22 50925894 [A/G] NM_017584 MIOX EXON Synonymous_T32T exm2017587 22 50926466 [A/G] NM_017584 MIOX EXON Missense_H110R exm1622996 22 50926765 [T/G] NM_017584 MIOX EXON Missense_E134D exm1623004 22 50927478 [A/G] NM_017584 MIOX EXON Missense_V140I exm1623008 22 50927503 [A/G] NM_017584 MIOX EXON Missense_C148Y exm1623013 22 50927532 [A/G] NM_017584 MIOX EXON Missense_D158N exm1623021 22 50927855 [A/G] NM_017584 MIOX EXON Missense_K206E exm1623023 22 50927870 [T/C] NM_017584 MIOX EXON Missense_P211S exm1623028 22 50927976 [T/C] NM_017584 MIOX EXON Missense_R218W exm1623029 22 50927977 [A/G] NM_017584 MIOX EXON Missense_R218Q exm1623038 22 50928012 [A/G] NM_017584 MIOX EXON Missense_D230N exm1623044 22 50928179 [A/G] NM_017584 MIOX EXON Missense_K251R exm1623050 22 50928217 [A/G] NM_017584 MIOX EXON Missense_V264M exm1623067 22 50941924 [T/G] NM_033200 LMF2 EXON Missense_R674S exm1623073 22 50941960 [A/G] NM_033200 LMF2 EXON Missense_R662W exm1623078 22 50942047 [C/G] NM_033200 LMF2 EXON Missense_L633V exm1623082 22 50942107 [A/G] NM_033200 LMF2 EXON Missense_R613C exm1623097 22 50942275 [T/G] NM_033200 LMF2 EXON Missense_P593T exm1623098 22 50942276 [G/C] NM_033200 LMF2 EXON Missense_D592E exm1623099 22 50942277 [T/C] NM_033200 LMF2 EXON Missense_D592G exm1623100 22 50942290 [T/C] NM_033200 LMF2 EXON Missense_V588M exm1623101 22 50942296 [A/G] NM_033200 LMF2 EXON Missense_P586S exm2017619 22 50942322 [A/C] NM_033200 LMF2 EXON Missense_R577L exm1623108 22 50942805 [T/C] NM_033200 LMF2 EXON Missense_R561H exm1623114 22 50942862 [G/C] NM_033200 LMF2 EXON Missense_S542T exm1623123 22 50943035 [A/G] NM_033200 LMF2 EXON Missense_P520L exm1623126 22 50943045 [T/C] NM_033200 LMF2 EXON Missense_T517A exm1623129 22 50943072 [T/C] NM_033200 LMF2 EXON Missense_M508V exm1623132 22 50943095 [T/G] NM_033200 LMF2 EXON Missense_H500P exm1623133 22 50943099 [A/G] NM_033200 LMF2 EXON Missense_P499S exm1623134 22 50943101 [A/G] NM_033200 LMF2 EXON Missense_V498A exm1623138 22 50943232 [A/G] NM_033200 LMF2 EXON Missense_T479M exm1623145 22 50943356 [A/G] NM_033200 LMF2 EXON Missense_R438C exm1623148 22 50943389 [T/C] NM_033200 LMF2 EXON Missense_G427R exm1623156 22 50943506 [T/C] NM_033200 LMF2 EXON Missense_A412T exm1623172 22 50943706 [A/C] NM_033200 LMF2 EXON Missense_W370L exm1623190 22 50943907 [A/G] NM_033200 LMF2 EXON Missense_L326F exm1623191 22 50943916 [T/C] NM_033200 LMF2 EXON Missense_V323I exm1623201 22 50944151 [A/G] NM_033200 LMF2 EXON Missense_H290Y exm1623202 22 50944156 [T/G] NM_033200 LMF2 EXON Missense_D288A exm1623206 22 50944168 [A/G] NM_033200 LMF2 EXON Missense_A284V exm1623218 22 50944480 [A/G] NM_033200 LMF2 EXON Missense_A253V exm1623228 22 50944529 [T/C] NM_033200 LMF2 EXON Missense_I237V exm1623232 22 50944601 [T/C] NM_033200 LMF2 EXON Missense_A213T exm1623236 22 50944625 [C/G] NM_033200 LMF2 EXON Missense_E205Q exm1623261 22 50945270 [A/G] NM_033200 LMF2 EXON Missense_P97S exm1623291 22 50956201 [A/G] NM_001185011,NM_152299,NM_014551 NCAPH2,NCAPH2,NCAPH2 EXON Missense_R128Q,Missense_R128Q,Missense_R128Q exm1623293 22 50956231 [T/C] NM_001185011,NM_152299,NM_014551 NCAPH2,NCAPH2,NCAPH2 EXON Missense_T138M,Missense_T138M,Missense_T138M exm1623304 22 50956614 [A/G] NM_001185011,NM_152299,NM_014551 NCAPH2,NCAPH2,NCAPH2 EXON Missense_V185I,Missense_V185I,Missense_V185I exm1623315 22 50957143 [A/G] NM_001185011,NM_152299,NM_014551 NCAPH2,NCAPH2,NCAPH2 EXON Missense_G238S,Missense_G238S,Missense_G238S exm1623316 22 50957160 [A/G] NM_001185011,NM_152299,NM_014551 NCAPH2,NCAPH2,NCAPH2 EXON Synonymous_P243P,Synonymous_P243P,Synonymous_P243P exm1623319 22 50957625 [G/C] NM_001185011,NM_152299,NM_014551 NCAPH2,NCAPH2,NCAPH2 EXON Missense_S246C,Missense_S246C,Missense_S246C exm2235961 22 50957663 [A/G] NM_001185011,NM_152299,NM_014551 NCAPH2,NCAPH2,NCAPH2 EXON Missense_E259K,Missense_E259K,Missense_E259K exm1623325 22 50957733 [T/C] NM_001185011,NM_152299,NM_014551 NCAPH2,NCAPH2,NCAPH2 EXON Missense_S282F,Missense_S282F,Missense_S282F exm2255274 22 50959456 [G/C] NM_001185011,NM_152299 NCAPH2,NCAPH2 EXON Synonymous_S308S,Synonymous_S308S exm1623332 22 50960002 [T/C] NM_001185011,NM_152299 NCAPH2,NCAPH2 EXON Missense_P322S,Missense_P322S exm2276781 22 50960235 [A/G] NM_001185011,NM_152299 NCAPH2,NCAPH2 EXON Missense_A356T,Missense_A356T exm1623342 22 50960434 [G/C] NM_001185011,NM_152299 NCAPH2,NCAPH2 EXON Missense_S376R,Missense_S376R exm1623349 22 50960660 [T/C] NM_001185011,NM_152299 NCAPH2,NCAPH2 EXON Missense_R405W,Missense_R405W exm1623350 22 50960682 [T/C] NM_001185011,NM_152299 NCAPH2,NCAPH2 Silent,Silent exm1623352 22 50960791 [A/G] NM_001185011,NM_152299 NCAPH2,NCAPH2 EXON Missense_R418Q,Missense_R418Q exm1623364 22 50961458 [T/C] NM_001185011,NM_152299 NCAPH2,NCAPH2 EXON Missense_P515S,Missense_P514S exm1623368 22 50961521 [T/C] NM_001185011,NM_152299 NCAPH2,NCAPH2 EXON Missense_C536R,Missense_C535R exm1623377 22 50961578 [G/C] NM_001185011,NM_152299 NCAPH2,NCAPH2 EXON Missense_L555V,Missense_L554V exm1623393 22 50962065 [A/G] NM_001185011,NM_152299,NM_001169109,NM_005138,NM_001169111,NM_001169110 NCAPH2,NCAPH2,SCO2,SCO2,SCO2,SCO2 EXON Silent,Silent,Missense_A259V,Missense_A259V,Missense_A259V,Missense_A259V exm1623419 22 50962300 [T/C] NM_001185011,NM_152299,NM_001169109,NM_005138,NM_001169111,NM_001169110 NCAPH2,NCAPH2,SCO2,SCO2,SCO2,SCO2 EXON Silent,Silent,Missense_V181I,Missense_V181I,Missense_V181I,Missense_V181I exm1623422 22 50962305 [T/C] NM_001185011,NM_152299,NM_001169109,NM_005138,NM_001169111,NM_001169110 NCAPH2,NCAPH2,SCO2,SCO2,SCO2,SCO2 EXON Silent,Silent,Missense_R179H,Missense_R179H,Missense_R179H,Missense_R179H exm1623427 22 50962381 [T/C] NM_001185011,NM_152299,NM_001169109,NM_005138,NM_001169111,NM_001169110 NCAPH2,NCAPH2,SCO2,SCO2,SCO2,SCO2 EXON Silent,Silent,Missense_E154K,Missense_E154K,Missense_E154K,Missense_E154K exm1623428 22 50962423 [T/C] NM_001185011,NM_152299,NM_001169109,NM_005138,NM_001169111,NM_001169110 NCAPH2,NCAPH2,SCO2,SCO2,SCO2,SCO2 EXON Silent,Silent,Missense_E140K,Missense_E140K,Missense_E140K,Missense_E140K exm1623431 22 50962463 [T/C] NM_001185011,NM_152299,NM_001169109,NM_005138,NM_001169111,NM_001169110 NCAPH2,NCAPH2,SCO2,SCO2,SCO2,SCO2 EXON Silent,Silent,Missense_M126I,Missense_M126I,Missense_M126I,Missense_M126I exm1623434 22 50962500 [T/C] NM_001185011,NM_152299,NM_001169109,NM_005138,NM_001169111,NM_001169110 NCAPH2,NCAPH2,SCO2,SCO2,SCO2,SCO2 EXON Silent,Silent,Missense_R114H,Missense_R114H,Missense_R114H,Missense_R114H exm1623439 22 50962538 [G/C] NM_001185011,NM_152299,NM_001169109,NM_005138,NM_001169111,NM_001169110 NCAPH2,NCAPH2,SCO2,SCO2,SCO2,SCO2 EXON Silent,Silent,Missense_Q101H,Missense_Q101H,Missense_Q101H,Missense_Q101H exm1623457 22 50962782 [G/C] NM_001185011,NM_152299,NM_001169109,NM_005138,NM_001169111,NM_001169110 NCAPH2,NCAPH2,SCO2,SCO2,SCO2,SCO2 EXON Silent,Silent,Missense_R20P,Missense_R20P,Missense_R20P,Missense_R20P exm1623463 22 50964207 [A/G] NM_001169109,NM_001169110,NM_001953,NM_001257988,NM_001257989,NM_001113756,NM_001113755 SCO2,SCO2,TYMP,TYMP,TYMP,TYMP,TYMP EXON Silent,Silent,Nonsense_Q481X,Nonsense_Q481X,Nonsense_Q486X,Nonsense_Q481X,Nonsense_Q481X exm1623464 22 50964236 [A/G] NM_001169109,NM_001169110,NM_001953,NM_001257988,NM_001257989,NM_001113756,NM_001113755 SCO2,SCO2,TYMP,TYMP,TYMP,TYMP,TYMP EXON Silent,Silent,Missense_S471L,Missense_S471L,Missense_S476L,Missense_S471L,Missense_S471L exm1623491 22 50965683 [T/C] NM_001953,NM_001257988,NM_001257989,NM_001113756,NM_001113755 TYMP,TYMP,TYMP,TYMP,TYMP EXON Missense_G226R,Missense_G226R,Missense_G226R,Missense_G226R,Missense_G226R exm1623497 22 50966041 [T/C] NM_001953,NM_001257988,NM_001257989,NM_001113756,NM_001113755 TYMP,TYMP,TYMP,TYMP,TYMP EXON Missense_V208M,Missense_V208M,Missense_V208M,Missense_V208M,Missense_V208M exm1623500 22 50966144 [T/C] NM_001953,NM_001257988,NM_001257989,NM_001113756,NM_001113755 TYMP,TYMP,TYMP,TYMP,TYMP EXON Missense_M173I,Missense_M173I,Missense_M173I,Missense_M173I,Missense_M173I exm-rs470119 22 50966914 [T/C] NM_001953,NM_001257988,NM_001257989,NM_001113756,NM_001113755 TYMP,TYMP,TYMP,TYMP,TYMP Silent,Silent,Silent,Silent,Silent exm1623506 22 50967020 [T/C] NM_001953,NM_001257988,NM_001257989,NM_001113756,NM_001113755 TYMP,TYMP,TYMP,TYMP,TYMP EXON Missense_R146H,Missense_R146H,Missense_R146H,Missense_R146H,Missense_R146H exm1623507 22 50967581 [A/G] NM_001953,NM_001257988,NM_001257989,NM_001113756,NM_001113755 TYMP,TYMP,TYMP,TYMP,TYMP EXON Missense_A134V,Missense_A134V,Missense_A134V,Missense_A134V,Missense_A134V exm2235966 22 50967663 [G/C] NM_001953,NM_001257988,NM_001257989,NM_001113756,NM_001113755 TYMP,TYMP,TYMP,TYMP,TYMP EXON Missense_A107P,Missense_A107P,Missense_A107P,Missense_A107P,Missense_A107P exm1623512 22 50967740 [T/C] NM_001953,NM_001257988,NM_001257989,NM_001113756,NM_001113755 TYMP,TYMP,TYMP,TYMP,TYMP EXON Missense_R81Q,Missense_R81Q,Missense_R81Q,Missense_R81Q,Missense_R81Q exm1623520 22 50967946 [T/C] NM_001953,NM_001257988,NM_001257989,NM_001113756,NM_001113755 TYMP,TYMP,TYMP,TYMP,TYMP EXON Missense_S65G,Missense_S65G,Missense_S65G,Missense_S65G,Missense_S65G exm1623525 22 50968000 [T/C] NM_001953,NM_001257988,NM_001257989,NM_001113756,NM_001113755 TYMP,TYMP,TYMP,TYMP,TYMP EXON Missense_G47S,Missense_G47S,Missense_G47S,Missense_G47S,Missense_G47S exm1623543 22 50969172 [T/G] NM_001014440 ODF3B EXON Missense_K217T exm1623546 22 50969367 [T/G] NM_001014440 ODF3B EXON Missense_K180T exm2276782 22 50969637 [A/G] NM_001014440 ODF3B EXON Missense_A134V exm1623555 22 50969647 [C/G] NM_001014440 ODF3B EXON Missense_G131R exm1623556 22 50969673 [T/C] NM_001014440 ODF3B EXON Missense_R122Q exm-rs131794 22 50971752 [A/C] exm1623600 22 50987747 [C/G] NM_138433 KLHDC7B EXON Missense_I384M exm1623614 22 50988105 [A/G] NM_138433 KLHDC7B EXON Missense_V504M exm2017771 22 50988141 [A/G] NM_138433 KLHDC7B EXON Missense_G516S exm2017773 22 50988183 [A/G] NM_138433 KLHDC7B EXON Missense_A530T exm1623622 22 50988193 [A/G] NM_138433 KLHDC7B EXON Missense_H533R exm1623629 22 50988376 [T/C] NM_138433 KLHDC7B EXON Missense_L594P exm1623632 22 50989678 [A/G] NM_001123225 SYCE3 EXON Missense_L88P exm1623635 22 50989742 [T/C] NM_001123225 SYCE3 EXON Missense_V67I exm1623644 22 51007772 [T/G] NM_152245,NM_001145137,NM_001145134,NM_001145135,NM_001145136,NM_152246,NR_027928,NM_004377 CPT1B,CPT1B,CPT1B,CPT1B,CPT1B,CPT1B,CHKB-CPT1B,CPT1B EXON Missense_S772R,Missense_S772R,Missense_S738R,Missense_S772R,Missense_S691R,Missense_S772R,Silent,Missense_S772R exm1623653 22 51008048 [A/G] NM_152245,NM_001145137,NM_001145134,NM_001145135,NM_001145136,NM_152246,NR_027928,NM_004377 CPT1B,CPT1B,CPT1B,CPT1B,CPT1B,CPT1B,CHKB-CPT1B,CPT1B EXON Missense_T731M,Missense_T731M,Missense_T697M,Missense_T731M,Missense_T650M,Missense_T731M,Silent,Missense_T731M exm1623654 22 51008055 [T/C] NM_152245,NM_001145137,NM_001145134,NM_001145135,NM_001145136,NM_152246,NR_027928,NM_004377 CPT1B,CPT1B,CPT1B,CPT1B,CPT1B,CPT1B,CHKB-CPT1B,CPT1B EXON Missense_E729K,Missense_E729K,Missense_E695K,Missense_E729K,Missense_E648K,Missense_E729K,Silent,Missense_E729K exm1623659 22 51008816 [T/C] NM_152245,NM_001145137,NM_001145134,NM_001145135,NM_001145136,NM_152246,NR_027928,NM_004377 CPT1B,CPT1B,CPT1B,CPT1B,CPT1B,CPT1B,CHKB-CPT1B,CPT1B EXON Missense_R683H,Missense_R683H,Missense_R649H,Missense_R683H,Missense_R602H,Missense_R683H,Silent,Missense_R683H exm1623666 22 51009468 [T/G] NM_152245,NM_001145137,NM_001145134,NM_001145135,NM_001145136,NM_152246,NR_027928,NM_004377 CPT1B,CPT1B,CPT1B,CPT1B,CPT1B,CPT1B,CHKB-CPT1B,CPT1B EXON Missense_A627E,Missense_A627E,Missense_A593E,Missense_A627E,Missense_A546E,Missense_A627E,Silent,Missense_A627E exm1623672 22 51009660 [T/C] NM_152245,NM_001145137,NM_001145134,NM_001145135,NM_001145136,NM_152246,NR_027928,NM_004377 CPT1B,CPT1B,CPT1B,CPT1B,CPT1B,CPT1B,CHKB-CPT1B,CPT1B EXON Missense_R601Q,Missense_R601Q,Missense_R567Q,Missense_R601Q,Missense_R520Q,Missense_R601Q,Silent,Missense_R601Q exm1623679 22 51009856 [T/C] NM_152245,NM_001145137,NM_001145134,NM_001145135,NM_001145136,NM_152246,NR_027928,NM_004377 CPT1B,CPT1B,CPT1B,CPT1B,CPT1B,CPT1B,CHKB-CPT1B,CPT1B EXON Missense_R563Q,Missense_R563Q,Missense_R529Q,Missense_R563Q,Missense_R482Q,Missense_R563Q,Silent,Missense_R563Q exm1623682 22 51009938 [T/C] NM_152245,NM_001145137,NM_001145134,NM_001145135,NM_001145136,NM_152246,NR_027928,NM_004377 CPT1B,CPT1B,CPT1B,CPT1B,CPT1B,CPT1B,CHKB-CPT1B,CPT1B EXON Missense_V536M,Missense_V536M,Missense_V502M,Missense_V536M,Missense_V455M,Missense_V536M,Silent,Missense_V536M exm1623683 22 51009953 [T/C] NM_152245,NM_001145137,NM_001145134,NM_001145135,NM_001145136,NM_152246,NR_027928,NM_004377 CPT1B,CPT1B,CPT1B,CPT1B,CPT1B,CPT1B,CHKB-CPT1B,CPT1B EXON Missense_E531K,Missense_E531K,Missense_E497K,Missense_E531K,Missense_E450K,Missense_E531K,Silent,Missense_E531K exm1623696 22 51010737 [T/C] NM_152245,NM_001145137,NM_001145134,NM_001145135,NM_001145136,NM_152246,NR_027928,NM_004377 CPT1B,CPT1B,CPT1B,CPT1B,CPT1B,CPT1B,CHKB-CPT1B,CPT1B EXON Synonymous_R451R,Synonymous_R451R,Synonymous_R417R,Synonymous_R451R,Synonymous_R370R,Synonymous_R451R,Silent,Synonymous_R451R exm1623699 22 51011322 [A/T] NM_152245,NM_001145137,NM_001145134,NM_001145135,NM_001145136,NM_152246,NR_027928,NM_004377 CPT1B,CPT1B,CPT1B,CPT1B,CPT1B,CPT1B,CHKB-CPT1B,CPT1B EXON Missense_H445L,Missense_H445L,Missense_H411L,Missense_H445L,Missense_H364L,Missense_H445L,Silent,Missense_H445L exm1623702 22 51011373 [T/C] NM_152245,NM_001145137,NM_001145134,NM_001145135,NM_001145136,NM_152246,NR_027928,NM_004377 CPT1B,CPT1B,CPT1B,CPT1B,CPT1B,CPT1B,CHKB-CPT1B,CPT1B EXON Missense_Y428C,Missense_Y428C,Missense_Y394C,Missense_Y428C,Silent,Missense_Y428C,Silent,Missense_Y428C exm1623703 22 51011376 [G/C] NM_152245,NM_001145137,NM_001145134,NM_001145135,NM_001145136,NM_152246,NR_027928,NM_004377 CPT1B,CPT1B,CPT1B,CPT1B,CPT1B,CPT1B,CHKB-CPT1B,CPT1B EXON Missense_S427C,Missense_S427C,Missense_S393C,Missense_S427C,Silent,Missense_S427C,Silent,Missense_S427C exm1623716 22 51012057 [T/C] NM_152245,NM_001145137,NM_001145134,NM_001145135,NM_001145136,NM_152246,NR_027928,NM_004377 CPT1B,CPT1B,CPT1B,CPT1B,CPT1B,CPT1B,CHKB-CPT1B,CPT1B EXON Missense_R353H,Missense_R353H,Missense_R319H,Missense_R353H,Missense_R353H,Missense_R353H,Silent,Missense_R353H exm1623724 22 51012775 [T/C] NM_152245,NM_001145137,NM_001145134,NM_001145135,NM_001145136,NM_152246,NR_027928,NM_004377 CPT1B,CPT1B,CPT1B,CPT1B,CPT1B,CPT1B,CHKB-CPT1B,CPT1B EXON Missense_G320D,Missense_G320D,Missense_G286D,Missense_G320D,Missense_G320D,Missense_G320D,Silent,Missense_G320D exm1623731 22 51012953 [T/C] NM_152245,NM_001145137,NM_001145134,NM_001145135,NM_001145136,NM_152246,NR_027928,NM_004377 CPT1B,CPT1B,CPT1B,CPT1B,CPT1B,CPT1B,CHKB-CPT1B,CPT1B EXON Missense_R285H,Missense_R285H,Missense_R251H,Missense_R285H,Missense_R285H,Missense_R285H,Silent,Missense_R285H exm1623732 22 51012974 [A/G] NM_152245,NM_001145137,NM_001145134,NM_001145135,NM_001145136,NM_152246,NR_027928,NM_004377 CPT1B,CPT1B,CPT1B,CPT1B,CPT1B,CPT1B,CHKB-CPT1B,CPT1B EXON Missense_I278T,Missense_I278T,Missense_I244T,Missense_I278T,Missense_I278T,Missense_I278T,Silent,Missense_I278T exm1623736 22 51014487 [T/C] NM_152245,NM_001145137,NM_001145134,NM_001145135,NM_001145136,NM_152246,NR_027928,NM_004377 CPT1B,CPT1B,CPT1B,CPT1B,CPT1B,CPT1B,CHKB-CPT1B,CPT1B EXON Missense_V252M,Missense_V252M,Missense_V218M,Missense_V252M,Missense_V252M,Missense_V252M,Silent,Missense_V252M exm1623762 22 51015371 [T/C] NM_152245,NM_001145137,NM_001145134,NM_001145135,NM_001145136,NM_152246,NR_027928,NM_004377 CPT1B,CPT1B,CPT1B,CPT1B,CPT1B,CPT1B,CHKB-CPT1B,CPT1B EXON Missense_R125H,Missense_R125H,Missense_R125H,Missense_R125H,Missense_R125H,Missense_R125H,Silent,Missense_R125H exm1623776 22 51015838 [T/C] NM_152245,NM_001145137,NM_001145134,NM_001145135,NM_001145136,NM_152246,NR_027928,NM_004377 CPT1B,CPT1B,CPT1B,CPT1B,CPT1B,CPT1B,CHKB-CPT1B,CPT1B EXON Missense_I66V,Missense_I66V,Missense_I66V,Missense_I66V,Missense_I66V,Missense_I66V,Silent,Missense_I66V exm-rs5770917 22 51017353 [T/C] NR_027928 CHKB-CPT1B Silent exm1623795 22 51018157 [A/G] NR_027928,NM_005198 CHKB-CPT1B,CHKB EXON Silent,Missense_R344W exm1623797 22 51018204 [T/C] NR_027928,NM_005198 CHKB-CPT1B,CHKB EXON Silent,Missense_Q328R exm1623808 22 51018428 [A/G] NR_027928,NM_005198 CHKB-CPT1B,CHKB EXON Silent,Missense_T301I exm2017839 22 51018814 [T/C] NR_027928,NM_005198 CHKB-CPT1B,CHKB EXON Silent,Missense_V237I exm1623817 22 51019001 [T/G] NR_027928,NM_005198 CHKB-CPT1B,CHKB EXON Silent,Missense_N224H exm1623826 22 51019849 [T/C] NR_027928,NM_005198 CHKB-CPT1B,CHKB EXON Silent,Missense_R194Q exm1623855 22 51021197 [A/G] NR_027928,NM_005198 CHKB-CPT1B,CHKB EXON Silent,Missense_A5V exm2255277 22 51041663 [A/C] NM_012324,NM_016431 MAPK8IP2,MAPK8IP2 EXON Synonymous_S61S,Synonymous_S34S exm1623881 22 51042092 [A/G] NM_012324,NM_016431 MAPK8IP2,MAPK8IP2 EXON Missense_R162H,Missense_R135H exm1623902 22 51042761 [T/C] NM_012324,NM_016431 MAPK8IP2,MAPK8IP2 EXON Missense_R345W,Missense_R318W exm1623911 22 51043278 [A/G] NM_012324,NM_016431 MAPK8IP2,MAPK8IP2 EXON Missense_S517N,Missense_S490N exm1623917 22 51043421 [T/C] NM_012324,NM_016431 MAPK8IP2,MAPK8IP2 EXON Missense_R565W,Missense_R538W exm1623921 22 51043836 [T/C] NM_012324,NM_016431 MAPK8IP2,MAPK8IP2 EXON Missense_A602V,Missense_A575V exm1623927 22 51044065 [T/C] NM_012324,NM_016431 MAPK8IP2,MAPK8IP2 EXON Missense_T639I,Missense_T612I exm1623932 22 51044154 [A/T] NM_012324,NM_016431 MAPK8IP2,MAPK8IP2 EXON Missense_T669S,Missense_T642S exm1623939 22 51045109 [T/C] NM_012324,NM_016431 MAPK8IP2,MAPK8IP2 EXON Missense_P716L,Missense_P689L exm1623963 22 51048721 [A/G] NM_012324,NM_016431 MAPK8IP2,MAPK8IP2 EXON Missense_R795Q,Missense_R768Q exm1623964 22 51049171 [A/G] NM_012324,NM_016431 MAPK8IP2,MAPK8IP2 EXON Missense_R813H,Missense_R786H exm2017882 22 51063758 [T/C] NM_001085427,NM_001085426,NM_001085425,NM_001085428,NM_000487 ARSA,ARSA,ARSA,ARSA,ARSA EXON Missense_G449R,Missense_G449R,Missense_G449R,Missense_G363R,Missense_G449R exm1623980 22 51063778 [T/C] NM_001085427,NM_001085426,NM_001085425,NM_001085428,NM_000487 ARSA,ARSA,ARSA,ARSA,ARSA EXON Missense_N442S,Missense_N442S,Missense_N442S,Missense_N356S,Missense_N442S exm1623983 22 51063820 [A/G] NM_001085427,NM_001085426,NM_001085425,NM_001085428,NM_000487 ARSA,ARSA,ARSA,ARSA,ARSA EXON Missense_P428L,Missense_P428L,Missense_P428L,Missense_P342L,Missense_P428L exm1623984 22 51063845 [T/G] NM_001085427,NM_001085426,NM_001085425,NM_001085428,NM_000487 ARSA,ARSA,ARSA,ARSA,ARSA EXON Missense_S420R,Missense_S420R,Missense_S420R,Missense_S334R,Missense_S420R exm1623987 22 51064039 [C/G] NM_001085427,NM_001085426,NM_001085425,NM_001085428,NM_000487 ARSA,ARSA,ARSA,ARSA,ARSA EXON Missense_T393S,Missense_T393S,Missense_T393S,Missense_T307S,Missense_T393S exm1623992 22 51064416 [T/C] NM_001085427,NM_001085426,NM_001085425,NM_001085428,NM_000487 ARSA,ARSA,ARSA,ARSA,ARSA EXON Missense_N352S,Missense_N352S,Missense_N352S,Missense_N266S,Missense_N352S exm2017894 22 51064489 [T/C] NM_001085427,NM_001085426,NM_001085425,NM_001085428,NM_000487 ARSA,ARSA,ARSA,ARSA,ARSA EXON Missense_V328M,Missense_V328M,Missense_V328M,Missense_V242M,Missense_V328M exm1624014 22 51065266 [C/G] NM_001085427,NM_001085426,NM_001085425,NM_001085428,NM_000487 ARSA,ARSA,ARSA,ARSA,ARSA EXON Missense_S227C,Missense_S227C,Missense_S227C,Missense_S141C,Missense_S227C exm1624016 22 51065287 [A/G] NM_001085427,NM_001085426,NM_001085425,NM_001085428,NM_000487 ARSA,ARSA,ARSA,ARSA,ARSA EXON Missense_P220L,Missense_P220L,Missense_P220L,Missense_P134L,Missense_P220L exm1624027 22 51065341 [T/C] NM_001085427,NM_001085426,NM_001085425,NM_001085428,NM_000487 ARSA,ARSA,ARSA,ARSA,ARSA EXON Missense_R202H,Missense_R202H,Missense_R202H,Missense_R116H,Missense_R202H exm1624031 22 51065361 [A/C] NM_001085427,NM_001085426,NM_001085425,NM_001085428,NM_000487 ARSA,ARSA,ARSA,ARSA,ARSA EXON Missense_W195C,Missense_W195C,Missense_W195C,Missense_W109C,Missense_W195C exm1624042 22 51065593 [T/C] NM_001085427,NM_001085426,NM_001085425,NM_001085428,NM_000487 ARSA,ARSA,ARSA,ARSA,ARSA Silent,Silent,Silent,Silent,Silent exm1624059 22 51066194 [A/G] NM_001085427,NM_001085426,NM_001085425,NM_001085428,NM_000487 ARSA,ARSA,ARSA,ARSA,ARSA EXON Missense_A5V,Missense_A5V,Missense_A5V,Silent,Missense_A5V exm-rs9616906 22 51104680 [A/G] exm1624089 22 51117580 [T/C] NM_033517 SHANK3 EXON Missense_I245T exm1624151 22 51143462 [A/G] NM_033517 SHANK3 EXON Missense_R642H exm2255280 22 51144513 [G/C] NM_033517 SHANK3 EXON Synonymous_P667P exm1624169 22 51153371 [A/G] NM_033517 SHANK3 EXON Missense_A707T exm2268429 22 51156078 [A/G] NM_033517 SHANK3 Silent exm1624201 22 51159778 [A/G] NM_033517 SHANK3 EXON Missense_A1159T exm1624216 22 51160154 [A/G] NM_033517 SHANK3 EXON Missense_R1284K exm1624265 22 51169684 [T/C] NM_033517 SHANK3 EXON Missense_R1700C exm2017996 22 51176664 [A/G] NM_001097 ACR EXON Missense_M1V exm2017998 22 51176734 [T/C] NM_001097 ACR EXON Missense_T24M exm1624282 22 51177812 [T/C] NM_001097 ACR EXON Missense_T64M exm1624294 22 51178286 [T/C] NM_001097 ACR EXON Missense_T149I exm2268446 22 51181759 [A/G] NM_001097 ACR Silent exm2269392 3 107776 [T/C] exm-rs10510181 3 191047 [A/G] exm-rs6764363 3 312349 [T/C] NM_006614,NM_001253387 CHL1,CHL1 Silent,Silent exm285444 3 361487 [G/C] NM_006614,NM_001253387,NM_001253388 CHL1,CHL1,CHL1 EXON Missense_L10V,Missense_L10V,Missense_L10V exm285445 3 361493 [A/G] NM_006614,NM_001253387,NM_001253388 CHL1,CHL1,CHL1 EXON Missense_V12I,Missense_V12I,Missense_V12I exm285447 3 361508 [T/C] NM_006614,NM_001253387,NM_001253388 CHL1,CHL1,CHL1 EXON Missense_L17F,Missense_L17F,Missense_L17F exm285451 3 361547 [T/G] NM_006614,NM_001253387,NM_001253388 CHL1,CHL1,CHL1 EXON Missense_S30A,Missense_S30A,Missense_S30A exm285454 3 367645 [A/G] NM_006614,NM_001253387,NM_001253388 CHL1,CHL1,CHL1 EXON Missense_Q32R,Missense_Q32R,Missense_Q32R exm285455 3 367656 [A/G] NM_006614,NM_001253387,NM_001253388 CHL1,CHL1,CHL1 EXON Missense_T36A,Missense_T36A,Missense_T36A exm285456 3 367678 [T/C] NM_006614,NM_001253387,NM_001253388 CHL1,CHL1,CHL1 EXON Missense_V43A,Missense_V43A,Missense_V43A exm285458 3 367705 [A/G] NM_006614,NM_001253387,NM_001253388 CHL1,CHL1,CHL1 EXON Missense_Y52C,Missense_Y52C,Missense_Y52C exm2256007 3 382547 [T/A] NM_006614,NM_001253387,NM_001253388 CHL1,CHL1,CHL1 EXON Synonymous_P152P,Synonymous_P152P,Synonymous_P152P exm285480 3 383757 [T/C] NM_006614,NM_001253387,NM_001253388 CHL1,CHL1,CHL1 EXON Missense_V224A,Missense_V224A,Missense_V224A exm285482 3 384691 [T/C] NM_006614,NM_001253387,NM_001253388 CHL1,CHL1,CHL1 EXON Missense_S235L,Silent,Missense_S235L exm285495 3 391100 [A/G] NM_006614,NM_001253387,NM_001253388 CHL1,CHL1,CHL1 EXON Missense_T303A,Missense_T287A,Missense_T303A exm285498 3 391139 [A/G] NM_006614,NM_001253387,NM_001253388 CHL1,CHL1,CHL1 EXON Missense_V316I,Missense_V300I,Missense_V316I exm285503 3 396324 [A/G] NM_006614,NM_001253387,NM_001253388 CHL1,CHL1,CHL1 EXON Synonymous_E345E,Synonymous_E329E,Synonymous_E345E exm285509 3 396442 [T/G] NM_006614,NM_001253387,NM_001253388 CHL1,CHL1,CHL1 EXON Missense_S385A,Missense_S369A,Missense_S385A exm285519 3 403395 [T/G] NM_006614,NM_001253387,NM_001253388 CHL1,CHL1,CHL1 EXON Missense_L440F,Missense_L424F,Missense_L440F exm285528 3 404921 [A/T] NM_006614,NM_001253387,NM_001253388 CHL1,CHL1,CHL1 EXON Missense_K480N,Missense_K464N,Missense_K480N exm285533 3 404982 [A/G] NM_006614,NM_001253387,NM_001253388 CHL1,CHL1,CHL1 EXON Missense_T501A,Missense_T485A,Missense_T501A exm285536 3 404985 [A/G] NM_006614,NM_001253387,NM_001253388 CHL1,CHL1,CHL1 EXON Missense_E502K,Missense_E486K,Missense_E502K exm285544 3 407693 [T/A] NM_006614,NM_001253387,NM_001253388 CHL1,CHL1,CHL1 EXON Missense_E549V,Missense_E533V,Missense_E549V exm285545 3 407753 [A/G] NM_006614,NM_001253387,NM_001253388 CHL1,CHL1,CHL1 EXON Missense_S569N,Missense_S553N,Missense_S569N exm285553 3 419546 [A/T] NM_006614,NM_001253387,NM_001253388 CHL1,CHL1,CHL1 EXON Missense_L599F,Missense_L583F,Missense_L599F exm285557 3 423879 [A/G] NM_006614,NM_001253387,NM_001253388 CHL1,CHL1,CHL1 EXON Missense_E632K,Missense_E616K,Missense_E632K exm285558 3 423901 [C/G] NM_006614,NM_001253387,NM_001253388 CHL1,CHL1,CHL1 EXON Missense_R639T,Missense_R623T,Missense_R639T exm285559 3 423904 [A/G] NM_006614,NM_001253387,NM_001253388 CHL1,CHL1,CHL1 EXON Missense_Q640R,Missense_Q624R,Missense_Q640R exm285560 3 423934 [G/C] NM_006614,NM_001253387,NM_001253388 CHL1,CHL1,CHL1 EXON Missense_A650G,Missense_A634G,Missense_A650G exm2051708 3 424274 [A/G] NM_006614,NM_001253387,NM_001253388 CHL1,CHL1,CHL1 EXON Missense_Q699R,Missense_Q683R,Missense_Q699R exm285575 3 424345 [T/C] NM_006614,NM_001253387,NM_001253388 CHL1,CHL1,CHL1 EXON Missense_P723S,Missense_P707S,Missense_P723S exm285578 3 430965 [C/G] NM_006614,NM_001253387,NM_001253388 CHL1,CHL1,CHL1 EXON Missense_G760R,Missense_G744R,Missense_G760R exm285601 3 432698 [A/G] NM_006614,NM_001253387,NM_001253388 CHL1,CHL1,CHL1 EXON Missense_I883V,Missense_I867V,Missense_I883V exm285618 3 436384 [A/T] NM_006614,NM_001253387,NM_001253388 CHL1,CHL1,CHL1 EXON Missense_T975S,Missense_T959S,Missense_T975S exm285627 3 439963 [A/G] NM_006614,NM_001253387,NM_001253388 CHL1,CHL1,CHL1 EXON Missense_I1050V,Missense_I1034V,Silent exm285651 3 447195 [T/C] NM_006614,NM_001253387,NM_001253388 CHL1,CHL1,CHL1 EXON Missense_P1159L,Missense_P1143L,Missense_P1106L exm285661 3 447323 [A/G] NM_006614,NM_001253387,NM_001253388 CHL1,CHL1,CHL1 EXON Missense_A1202T,Missense_A1186T,Missense_A1149T exm2265554 3 669478 [A/G] exm2265409 3 812421 [A/G] exm-rs4684585 3 883851 [A/G] exm-rs35964523 3 898661 [T/C] exm-rs4594610 3 1014666 [A/G] exm285668 3 1189697 [A/G] NM_014461 CNTN6 EXON Missense_R2K exm285689 3 1320121 [T/C] NM_014461 CNTN6 EXON Missense_T128I exm285695 3 1320181 [G/C] NM_014461 CNTN6 EXON Missense_P148R exm285696 3 1320187 [T/C] NM_014461 CNTN6 EXON Missense_F150S exm2261387 3 1355266 [T/C] NM_014461 CNTN6 Silent exm285717 3 1363344 [G/C] NM_014461 CNTN6 EXON Missense_D258H exm285723 3 1363411 [G/C] NM_014461 CNTN6 EXON Missense_A280G exm285725 3 1363480 [A/G] NM_014461 CNTN6 EXON Missense_R303Q exm285727 3 1363500 [A/G] NM_014461 CNTN6 EXON Missense_G310S exm285736 3 1367590 [C/G] NM_014461 CNTN6 EXON Missense_N346K exm285737 3 1369171 [A/G] NM_014461 CNTN6 EXON Missense_I372V exm285739 3 1369241 [T/C] NM_014461 CNTN6 EXON Missense_I395T exm285740 3 1369255 [G/C] NM_014461 CNTN6 EXON Missense_E400Q exm285750 3 1371573 [T/G] NM_014461 CNTN6 EXON Missense_A440S exm285751 3 1371603 [G/C] NM_014461 CNTN6 EXON Missense_L450V exm285763 3 1414033 [A/G] NM_014461 CNTN6 EXON Missense_E515K exm285766 3 1414075 [A/C] NM_014461 CNTN6 EXON Missense_I529L exm2039885 3 1414127 [A/G] NM_014461 CNTN6 EXON Missense_K546R exm285769 3 1414159 [A/G] NM_014461 CNTN6 Silent exm285795 3 1415692 [T/C] NM_014461 CNTN6 EXON Missense_A677V exm285797 3 1415694 [A/G] NM_014461 CNTN6 EXON Missense_G678S exm285810 3 1424693 [T/C] NM_014461 CNTN6 EXON Missense_S745L exm285816 3 1424828 [G/C] NM_014461 CNTN6 EXON Missense_S790T exm285823 3 1425032 [T/G] NM_014461 CNTN6 EXON Missense_M819I exm285824 3 1425055 [T/C] NM_014461 CNTN6 EXON Missense_A827V exm285832 3 1427412 [A/G] NM_014461 CNTN6 EXON Missense_V879I exm285837 3 1427461 [A/G] NM_014461 CNTN6 EXON Missense_N895S exm285855 3 1445085 [A/C] NM_014461 CNTN6 EXON Missense_I1024L exm2269393 3 1498979 [T/C] exm-rs440961 3 1600348 [A/G] exm2265410 3 1791236 [A/G] exm-rs10510217 3 1839693 [A/G] exm-rs2727943 3 1897973 [T/C] exm2265555 3 1982593 [A/G] exm2265411 3 2302790 [A/G] NM_175607,NM_001206955 CNTN4,CNTN4 Silent,Silent exm285861 3 2613232 [C/G] NM_175607,NM_001206955 CNTN4,CNTN4 EXON Missense_L15F,Missense_L15F exm-rs2619566 3 2624938 [A/G] NM_175607,NM_001206955 CNTN4,CNTN4 Silent,Silent exm-rs4370013 3 2654691 [A/T] NM_175607,NM_001206955 CNTN4,CNTN4 Silent,Silent exm2261479 3 2751953 [A/G] NM_175607,NM_001206955 CNTN4,CNTN4 Silent,Silent exm285883 3 2908507 [A/G] NM_175607,NM_001206955 CNTN4,CNTN4 EXON Missense_T176A,Missense_T176A exm285885 3 2908513 [A/G] NM_175607,NM_001206955 CNTN4,CNTN4 EXON Missense_N178D,Missense_N178D exm285888 3 2908537 [A/C] NM_175607,NM_001206955 CNTN4,CNTN4 EXON Missense_K186Q,Missense_K186Q exm285892 3 2924838 [A/G] NM_175607,NM_001206955 CNTN4,CNTN4 EXON Missense_G221D,Missense_G221D exm285897 3 2928747 [A/G] NM_175607,NM_001206955 CNTN4,CNTN4 EXON Missense_R260Q,Missense_R260Q exm285898 3 2928764 [T/C] NM_175607,NM_001206955 CNTN4,CNTN4 EXON Missense_P266S,Missense_P266S exm285910 3 2942488 [A/G] NM_175607,NM_001206955,NM_001206956,NM_175613 CNTN4,CNTN4,CNTN4,CNTN4 EXON Missense_E354K,Missense_E354K,Missense_E26K,Missense_E26K exm285911 3 2944569 [G/C] NM_175607,NM_001206955,NM_001206956,NM_175613 CNTN4,CNTN4,CNTN4,CNTN4 EXON Missense_Q363E,Missense_Q363E,Missense_Q35E,Missense_Q35E exm2263979 3 2954866 [A/C] NM_175607,NM_001206955,NM_001206956,NM_175613 CNTN4,CNTN4,CNTN4,CNTN4 Silent,Silent,Silent,Silent exm285920 3 3030052 [A/G] NM_175607,NM_001206955,NM_001206956,NM_175613 CNTN4,CNTN4,CNTN4,CNTN4 EXON Missense_N461S,Missense_N461S,Missense_N133S,Missense_N133S exm285921 3 3030069 [A/G] NM_175607,NM_001206955,NM_001206956,NM_175613 CNTN4,CNTN4,CNTN4,CNTN4 EXON Missense_V467I,Missense_V467I,Missense_V139I,Missense_V139I exm285928 3 3067802 [T/G] NM_175607,NM_001206955,NM_001206956,NM_175613 CNTN4,CNTN4,CNTN4,CNTN4 EXON Missense_M501I,Missense_M501I,Missense_M173I,Missense_M173I exm285932 3 3067864 [T/C] NM_175607,NM_001206955,NM_001206956,NM_175613 CNTN4,CNTN4,CNTN4,CNTN4 EXON Missense_T522M,Missense_T522M,Missense_T194M,Missense_T194M exm285938 3 3072619 [T/G] NM_175607,NM_001206955,NM_001206956,NM_175613 CNTN4,CNTN4,CNTN4,CNTN4 EXON Missense_S581R,Missense_S581R,Missense_S252R,Missense_S253R exm285939 3 3072635 [T/G] NM_175607,NM_001206955,NM_001206956,NM_175613 CNTN4,CNTN4,CNTN4,CNTN4 EXON Missense_A587S,Missense_A587S,Missense_A258S,Missense_A259S exm285948 3 3076420 [T/C] NM_175607,NM_001206955,NM_001206956,NM_175613 CNTN4,CNTN4,CNTN4,CNTN4 EXON Missense_Y630H,Missense_Y630H,Missense_Y301H,Missense_Y302H exm2255970 3 3081933 [A/G] NM_175607,NM_001206955,NM_001206956,NM_175613 CNTN4,CNTN4,CNTN4,CNTN4 EXON Synonymous_T792T,Synonymous_T792T,Synonymous_T463T,Synonymous_T464T exm285987 3 3084045 [T/A] NM_175607,NM_001206955,NM_001206956,NM_175613 CNTN4,CNTN4,CNTN4,CNTN4 EXON Missense_D817V,Missense_D817V,Missense_D488V,Missense_D489V exm285996 3 3084747 [G/C] NM_175607,NM_001206955,NM_001206956,NM_175613 CNTN4,CNTN4,CNTN4,CNTN4 EXON Missense_N866K,Missense_N866K,Missense_N537K,Missense_N538K exm286005 3 3095492 [T/G] NM_175607,NM_001206955,NM_001206956,NM_175613 CNTN4,CNTN4,CNTN4,CNTN4 EXON Missense_V938G,Missense_V938G,Missense_V609G,Missense_V610G exm286012 3 3097813 [T/C] NM_175607,NM_001206955,NM_001206956,NM_175613 CNTN4,CNTN4,CNTN4,CNTN4 EXON Missense_A997V,Missense_A997V,Missense_A668V,Missense_A669V exm2273368 3 3098041 [C/G] NM_175607,NM_001206955,NM_001206956,NM_175613 CNTN4,CNTN4,CNTN4,CNTN4 EXON Silent,Silent,Silent,Silent exm286025 3 3111976 [A/G] NM_175726,NM_000564,NM_001243099 IL5RA,IL5RA,IL5RA EXON Missense_T399M,Missense_T399M,Missense_R371W exm286031 3 3116518 [A/G] NM_175726,NM_000564,NM_001243099 IL5RA,IL5RA,IL5RA EXON Missense_I375T,Missense_I375T,Silent exm286034 3 3118230 [A/G] NM_175726,NM_000564,NM_001243099 IL5RA,IL5RA,IL5RA EXON Missense_S359L,Missense_S359L,Missense_S359L exm286048 3 3133920 [T/G] NM_175726,NM_000564,NM_001243099,NM_175725,NM_175728,NM_175727,NM_175724 IL5RA,IL5RA,IL5RA,IL5RA,IL5RA,IL5RA,IL5RA EXON Missense_P328T,Missense_P328T,Missense_P328T,Missense_P328T,Missense_P328T,Missense_P328T,Missense_P328T exm286049 3 3133937 [A/C] NM_175726,NM_000564,NM_001243099,NM_175725,NM_175728,NM_175727,NM_175724 IL5RA,IL5RA,IL5RA,IL5RA,IL5RA,IL5RA,IL5RA EXON Missense_W322L,Missense_W322L,Missense_W322L,Missense_W322L,Missense_W322L,Missense_W322L,Missense_W322L exm286053 3 3133989 [T/C] NM_175726,NM_000564,NM_001243099,NM_175725,NM_175728,NM_175727,NM_175724 IL5RA,IL5RA,IL5RA,IL5RA,IL5RA,IL5RA,IL5RA EXON Missense_D305N,Missense_D305N,Missense_D305N,Missense_D305N,Missense_D305N,Missense_D305N,Missense_D305N exm286055 3 3137053 [A/G] NM_175726,NM_000564,NM_001243099,NM_175725,NM_175728,NM_175727,NM_175724 IL5RA,IL5RA,IL5RA,IL5RA,IL5RA,IL5RA,IL5RA EXON Missense_V262A,Missense_V262A,Missense_V262A,Missense_V262A,Missense_V262A,Missense_V262A,Missense_V262A exm286058 3 3137092 [A/G] NM_175726,NM_000564,NM_001243099,NM_175725,NM_175728,NM_175727,NM_175724 IL5RA,IL5RA,IL5RA,IL5RA,IL5RA,IL5RA,IL5RA EXON Missense_I249T,Missense_I249T,Missense_I249T,Missense_I249T,Missense_I249T,Missense_I249T,Missense_I249T exm286061 3 3139568 [G/C] NM_175726,NM_000564,NM_001243099,NM_175725,NM_175728,NM_175727,NM_175724 IL5RA,IL5RA,IL5RA,IL5RA,IL5RA,IL5RA,IL5RA EXON Missense_A232G,Missense_A232G,Missense_A232G,Missense_A232G,Missense_A232G,Missense_A232G,Missense_A232G exm286072 3 3139957 [T/C] NM_175726,NM_000564,NM_001243099,NM_175725,NM_175728,NM_175727,NM_175724 IL5RA,IL5RA,IL5RA,IL5RA,IL5RA,IL5RA,IL5RA EXON Missense_I129V,Missense_I129V,Missense_I129V,Missense_I129V,Missense_I129V,Missense_I129V,Missense_I129V exm286077 3 3143404 [T/C] NM_175726,NM_000564,NM_001243099,NM_175725,NM_175728,NM_175727,NM_175724 IL5RA,IL5RA,IL5RA,IL5RA,IL5RA,IL5RA,IL5RA EXON Nonsense_W113X,Nonsense_W113X,Nonsense_W113X,Nonsense_W113X,Nonsense_W113X,Nonsense_W113X,Nonsense_W113X exm286080 3 3143447 [T/C] NM_175726,NM_000564,NM_001243099,NM_175725,NM_175728,NM_175727,NM_175724 IL5RA,IL5RA,IL5RA,IL5RA,IL5RA,IL5RA,IL5RA EXON Missense_R99Q,Missense_R99Q,Missense_R99Q,Missense_R99Q,Missense_R99Q,Missense_R99Q,Missense_R99Q exm286084 3 3144388 [T/C] NM_175726,NM_000564,NM_001243099,NM_175725,NM_175728,NM_175727,NM_175724 IL5RA,IL5RA,IL5RA,IL5RA,IL5RA,IL5RA,IL5RA EXON Missense_V67M,Missense_V67M,Missense_V67M,Missense_V67M,Missense_V67M,Missense_V67M,Missense_V67M exm286085 3 3144410 [A/C] NM_175726,NM_000564,NM_001243099,NM_175725,NM_175728,NM_175727,NM_175724 IL5RA,IL5RA,IL5RA,IL5RA,IL5RA,IL5RA,IL5RA EXON Missense_R59S,Missense_R59S,Missense_R59S,Missense_R59S,Missense_R59S,Missense_R59S,Missense_R59S exm286095 3 3146659 [T/C] NM_175726,NM_000564,NM_001243099,NM_175725,NM_175728,NM_175727,NM_175724 IL5RA,IL5RA,IL5RA,IL5RA,IL5RA,IL5RA,IL5RA EXON Missense_V4M,Missense_V4M,Missense_V4M,Missense_V4M,Missense_V4M,Missense_V4M,Missense_V4M exm2255974 3 3156811 [A/G] exm286100 3 3170792 [T/C] NM_182916 TRNT1 EXON Missense_P23L exm286103 3 3170831 [T/A] NM_182916 TRNT1 EXON Missense_E36V exm286113 3 3179054 [A/G] NM_182916 TRNT1 EXON Missense_T87A exm286117 3 3179126 [A/G] NM_182916 TRNT1 EXON Missense_I111V exm2049357 3 3179136 [A/G] NM_182916 TRNT1 EXON Missense_R114K exm286129 3 3188248 [A/G] NM_182916 TRNT1 EXON Missense_G248D exm286135 3 3189140 [G/C] NM_182916 TRNT1 EXON Missense_P270R exm286137 3 3189179 [A/G] NM_182916 TRNT1 EXON Missense_K283R exm286138 3 3189193 [T/A] NM_182916 TRNT1 EXON Missense_F288I exm2255975 3 3189276 [T/C] NM_182916 TRNT1 EXON Synonymous_I315I exm286154 3 3189779 [A/G] NM_182916 TRNT1 EXON Missense_K416E exm286157 3 3189824 [A/G] NM_182916 TRNT1 EXON Missense_I431V exm286158 3 3189825 [T/C] NM_182916 TRNT1 EXON Missense_I431T exm2255976 3 3192660 [T/C] NM_016302,NM_001173482 CRBN,CRBN EXON Synonymous_K406K,Synonymous_K405K exm286176 3 3194170 [T/C] NM_016302,NM_001173482 CRBN,CRBN EXON Missense_R373Q,Missense_R372Q exm286184 3 3195658 [G/C] NM_016302,NM_001173482 CRBN,CRBN EXON Missense_D313H,Missense_D312H exm286209 3 3209416 [T/C] NM_016302,NM_001173482 CRBN,CRBN EXON Missense_V197I,Missense_V196I exm286217 3 3214607 [T/C] NM_016302,NM_001173482 CRBN,CRBN EXON Missense_N127S,Missense_N126S exm286222 3 3215870 [A/G] NM_016302,NM_001173482 CRBN,CRBN EXON Missense_L84F,Missense_L83F exm286231 3 3216933 [T/C] NM_016302,NM_001173482 CRBN,CRBN EXON Missense_E30K,Missense_E29K exm286237 3 3221322 [T/G] NM_016302,NM_001173482 CRBN,CRBN EXON Missense_H17P,Missense_H17P exm286240 3 3221343 [A/G] NM_016302,NM_001173482 CRBN,CRBN EXON Missense_A10V,Missense_A10V exm-rs4109078 3 3240356 [T/C] exm2265557 3 3587732 [A/G] exm-rs1601875 3 3658840 [A/G] exm2265413 3 3767186 [A/G] exm286256 3 3886665 [A/G] NM_020873 LRRN1 EXON Missense_G114R exm286267 3 3886878 [T/C] NM_020873 LRRN1 EXON Missense_R185C exm2050956 3 3886894 [T/C] NM_020873 LRRN1 EXON Missense_T190I exm286279 3 3887188 [A/G] NM_020873 LRRN1 EXON Missense_R288Q exm286283 3 3887238 [T/C] NM_020873 LRRN1 EXON Missense_R305C exm286287 3 3887313 [T/C] NM_020873 LRRN1 EXON Missense_R330C exm286288 3 3887330 [T/G] NM_020873 LRRN1 EXON Missense_S335R exm286294 3 3887508 [G/C] NM_020873 LRRN1 EXON Missense_L395V exm286300 3 3887643 [A/G] NM_020873 LRRN1 EXON Missense_G440S exm286310 3 3887901 [T/G] NM_020873 LRRN1 EXON Missense_V526L exm286313 3 3887968 [A/G] NM_020873 LRRN1 EXON Missense_N548S exm286323 3 3888153 [A/G] NM_020873 LRRN1 EXON Missense_V610I exm2275649 3 3888177 [A/G] NM_020873 LRRN1 EXON Missense_A618T exm286333 3 3888392 [A/T] NM_020873 LRRN1 EXON Missense_E689D exm286339 3 3888442 [A/G] NM_020873 LRRN1 EXON Missense_Q706R exm286348 3 4345184 [T/C] NM_006515,NM_001276325,NR_075073,NM_001243723 SETMAR,SETMAR,SETMAR,SETMAR EXON Missense_P44S,Missense_P44S,Silent,Missense_P44S exm286354 3 4354581 [T/G] NM_006515,NM_001276325,NR_075073,NM_001243723,NR_024022 SETMAR,SETMAR,SETMAR,SETMAR,SETMAR Silent,Silent,Silent,Silent,Silent exm286356 3 4354682 [T/C] NM_006515,NM_001276325,NR_075073,NM_001243723,NR_024022 SETMAR,SETMAR,SETMAR,SETMAR,SETMAR EXON Missense_T86I,Missense_T86I,Silent,Missense_T86I,Silent exm286357 3 4354697 [A/G] NM_006515,NM_001276325,NR_075073,NM_001243723,NR_024022 SETMAR,SETMAR,SETMAR,SETMAR,SETMAR EXON Missense_R91H,Missense_R91H,Silent,Missense_R91H,Silent exm286363 3 4354774 [C/G] NM_006515,NM_001276325,NR_075073,NM_001243723,NR_024022 SETMAR,SETMAR,SETMAR,SETMAR,SETMAR EXON Missense_E117Q,Missense_E117Q,Silent,Missense_E117Q,Silent exm286365 3 4354802 [A/G] NM_006515,NM_001276325,NR_075073,NM_001243723,NR_024022 SETMAR,SETMAR,SETMAR,SETMAR,SETMAR EXON Missense_D126G,Missense_D126G,Silent,Missense_D126G,Silent exm286367 3 4354826 [T/A] NM_006515,NM_001276325,NR_075073,NM_001243723,NR_024022 SETMAR,SETMAR,SETMAR,SETMAR,SETMAR EXON Missense_Q134L,Missense_Q134L,Silent,Missense_Q134L,Silent exm2273890 3 4354849 [G/C] NM_006515,NM_001276325,NR_075073,NM_001243723,NR_024022 SETMAR,SETMAR,SETMAR,SETMAR,SETMAR EXON Missense_Q142E,Missense_Q142E,Silent,Missense_Q142E,Silent exm286379 3 4355005 [A/G] NM_006515,NM_001276325,NR_075073,NM_001243723,NR_024022 SETMAR,SETMAR,SETMAR,SETMAR,SETMAR EXON Missense_I194V,Missense_I194V,Silent,Silent,Silent exm286382 3 4355132 [A/G] NM_006515,NM_001276325,NR_075073,NM_001243723,NR_024022 SETMAR,SETMAR,SETMAR,SETMAR,SETMAR EXON Missense_R236Q,Missense_R236Q,Silent,Silent,Silent exm286383 3 4355138 [A/C] NM_006515,NM_001276325,NR_075073,NM_001243723,NR_024022 SETMAR,SETMAR,SETMAR,SETMAR,SETMAR EXON Missense_D238A,Missense_D238A,Silent,Silent,Silent exm286385 3 4355180 [T/C] NM_006515,NM_001276325,NR_075073,NM_001243723,NR_024022 SETMAR,SETMAR,SETMAR,SETMAR,SETMAR EXON Missense_I252T,Missense_I252T,Silent,Silent,Silent exm2052042 3 4355201 [G/C] NM_006515,NM_001276325,NR_075073,NM_001243723,NR_024022 SETMAR,SETMAR,SETMAR,SETMAR,SETMAR EXON Missense_S259C,Missense_S259C,Silent,Silent,Silent exm286393 3 4355347 [A/G] NM_006515,NM_001276325,NR_075073,NM_001243723,NR_024022 SETMAR,SETMAR,SETMAR,SETMAR,SETMAR EXON Missense_V308I,Missense_V308I,Silent,Missense_V169I,Silent exm-rs794185 3 4437358 [T/C] NM_001164675,NM_001164674,NM_182760 SUMF1,SUMF1,SUMF1 Silent,Silent,Silent exm286456 3 4452551 [A/G] NM_001164675,NM_001164674,NM_182760 SUMF1,SUMF1,SUMF1 EXON Missense_P318S,Missense_P293S,Missense_P318S exm286467 3 4458816 [A/G] NM_001164675,NM_001164674,NM_182760 SUMF1,SUMF1,SUMF1 EXON Missense_A279V,Missense_A254V,Missense_A279V exm286469 3 4458850 [T/C] NM_001164675,NM_001164674,NM_182760 SUMF1,SUMF1,SUMF1 EXON Missense_T268A,Missense_T243A,Missense_T268A exm286472 3 4459697 [T/C] NM_001164675,NM_001164674,NM_182760 SUMF1,SUMF1,SUMF1 EXON Missense_N241S,Missense_N216S,Missense_N241S exm286475 3 4459755 [G/C] NM_001164675,NM_001164674,NM_182760 SUMF1,SUMF1,SUMF1 EXON Missense_G222R,Missense_G197R,Missense_G222R exm286486 3 4461747 [T/C] NM_001164675,NM_001164674,NM_182760 SUMF1,SUMF1,SUMF1 Silent,Silent,Silent exm286488 3 4461782 [A/G] NM_001164675,NM_001164674,NM_182760 SUMF1,SUMF1,SUMF1 EXON Missense_H190Y,Missense_H165Y,Missense_H190Y exm286493 3 4490950 [T/C] NM_001164675,NM_001164674,NM_182760 SUMF1,SUMF1,SUMF1 EXON Synonymous_A173A,Silent,Synonymous_A173A exm286515 3 4508871 [A/C] NM_001164675,NM_001164674,NM_182760 SUMF1,SUMF1,SUMF1 EXON Missense_L20R,Missense_L20R,Missense_L20R exm286516 3 4508872 [A/G] NM_001164675,NM_001164674,NM_182760 SUMF1,SUMF1,SUMF1 EXON Missense_L20F,Missense_L20F,Missense_L20F exm2261504 3 4662497 [A/G] NM_001099952,NM_002222,NM_001168272 ITPR1,ITPR1,ITPR1 Silent,Silent,Silent exm286563 3 4704816 [A/G] NM_001099952,NM_002222,NM_001168272 ITPR1,ITPR1,ITPR1 EXON Missense_V494I,Missense_V479I,Missense_V479I exm286578 3 4712413 [A/G] NM_001099952,NM_002222,NM_001168272 ITPR1,ITPR1,ITPR1 EXON Synonymous_K669K,Synonymous_K654K,Synonymous_K654K exm286586 3 4714920 [A/G] NM_001099952,NM_002222,NM_001168272 ITPR1,ITPR1,ITPR1 EXON Missense_M769V,Missense_M754V,Missense_M754V exm286595 3 4715070 [A/G] NM_001099952,NM_002222,NM_001168272 ITPR1,ITPR1,ITPR1 EXON Missense_D819N,Missense_D804N,Missense_D804N exm286604 3 4716885 [T/C] NM_001099952,NM_002222,NM_001168272 ITPR1,ITPR1,ITPR1 EXON Missense_A911V,Missense_A896V,Missense_A896V exm286617 3 4725441 [A/G] NM_001099952,NM_002222,NM_001168272 ITPR1,ITPR1,ITPR1 EXON Missense_M1144V,Missense_M1129V,Missense_M1138V exm286619 3 4725445 [A/G] NM_001099952,NM_002222,NM_001168272 ITPR1,ITPR1,ITPR1 EXON Missense_D1145G,Missense_D1130G,Missense_D1139G exm286622 3 4725976 [A/C] NM_001099952,NM_002222,NM_001168272 ITPR1,ITPR1,ITPR1 EXON Missense_N1161K,Missense_N1146K,Missense_N1155K exm286636 3 4732835 [A/C] NM_001099952,NM_002222,NM_001168272 ITPR1,ITPR1,ITPR1 EXON Missense_E1270A,Missense_E1255A,Missense_E1264A exm286654 3 4735407 [C/G] NM_001099952,NM_002222,NM_001168272 ITPR1,ITPR1,ITPR1 EXON Missense_H1412Q,Missense_H1397Q,Missense_H1406Q exm286655 3 4738837 [A/G] NM_001099952,NM_002222,NM_001168272 ITPR1,ITPR1,ITPR1 EXON Missense_I1421V,Missense_I1406V,Missense_I1415V exm286657 3 4741510 [T/C] NM_001099952,NM_002222,NM_001168272 ITPR1,ITPR1,ITPR1 EXON Missense_T1465I,Missense_T1450I,Missense_T1459I exm286662 3 4741563 [A/G] NM_001099952,NM_002222,NM_001168272 ITPR1,ITPR1,ITPR1 EXON Missense_V1483I,Missense_V1468I,Missense_V1477I exm286684 3 4767256 [A/C] NM_001099952,NM_002222,NM_001168272 ITPR1,ITPR1,ITPR1 EXON Silent,Silent,Missense_N1706K exm286701 3 4776848 [T/G] NM_001099952,NM_002222,NM_001168272 ITPR1,ITPR1,ITPR1 EXON Missense_G1737V,Missense_G1722V,Missense_G1770V exm2239677 3 4776935 [A/G] NM_001099952,NM_002222,NM_001168272 ITPR1,ITPR1,ITPR1 EXON Missense_N1766S,Missense_N1751S,Missense_N1799S exm286708 3 4808290 [T/G] NM_001099952,NM_002222,NM_001168272 ITPR1,ITPR1,ITPR1 EXON Missense_V1826G,Missense_V1811G,Missense_V1859G exm286733 3 4824363 [A/G] NM_001099952,NM_002222,NM_001168272 ITPR1,ITPR1,ITPR1 EXON Missense_G2102S,Missense_G2087S,Missense_G2135S exm286753 3 4842276 [A/G] NM_001099952,NM_002222,NM_001168272 ITPR1,ITPR1,ITPR1 EXON Missense_A2319T,Missense_A2304T,Missense_A2352T exm2269394 3 4842488 [T/G] NM_001099952,NM_002222,NM_001168272 ITPR1,ITPR1,ITPR1 Silent,Silent,Silent exm286772 3 4856204 [T/C] NM_001099952,NM_002222,NM_001168272 ITPR1,ITPR1,ITPR1 EXON Synonymous_S2505S,Synonymous_S2490S,Synonymous_S2538S exm2256053 3 4856204 [T/C] NM_001099952,NM_002222,NM_001168272 ITPR1,ITPR1,ITPR1 EXON Synonymous_S2505S,Synonymous_S2490S,Synonymous_S2538S exm286798 3 5023157 [T/G] NM_003670 BHLHE40 EXON Missense_Q113H exm286813 3 5024734 [T/C] NM_003670 BHLHE40 EXON Missense_M199T exm286822 3 5024900 [C/G] NM_003670 BHLHE40 EXON Missense_L254F exm286827 3 5024953 [G/C] NM_003670 BHLHE40 EXON Missense_G272A exm286836 3 5025066 [A/C] NM_003670 BHLHE40 EXON Missense_P310T exm286841 3 5025147 [T/C] NM_003670 BHLHE40 EXON Missense_P337S exm286844 3 5025216 [A/G] NM_003670 BHLHE40 EXON Missense_A360T exm286855 3 5025363 [C/G] NM_003670 BHLHE40 EXON Missense_E409Q exm2239872 3 5164223 [A/C] NM_018184 ARL8B EXON Missense_L25I exm286874 3 5216072 [A/G] NM_018184 ARL8B EXON Missense_I162V exm286883 3 5229499 [C/G] NM_014674 EDEM1 EXON Missense_W3C exm286897 3 5229860 [C/G] NM_014674 EDEM1 EXON Missense_P124A exm286917 3 5243490 [A/C] NM_014674 EDEM1 EXON Missense_P247T exm286922 3 5243571 [A/G] NM_014674 EDEM1 EXON Missense_A274T exm2276810 3 5243609 [A/G] NM_014674 EDEM1 EXON Synonymous_R286R exm286923 3 5244678 [A/G] NM_014674 EDEM1 EXON Missense_D296N exm286943 3 5248942 [T/C] NM_014674 EDEM1 EXON Missense_F441S exm286945 3 5249841 [T/C] NM_014674 EDEM1 EXON Nonsense_R468X exm2277264 3 5249916 [G/C] NM_014674 EDEM1 EXON Missense_E493Q exm286954 3 5252833 [A/G] NM_014674 EDEM1 EXON Missense_I538V exm286964 3 5255160 [T/C] NM_014674 EDEM1 EXON Missense_H613Y exm286967 3 5255176 [A/G] NM_014674 EDEM1 EXON Missense_H618R exm2057776 3 5255207 [T/C] NM_014674 EDEM1 EXON Synonymous_N628N exm286970 3 5257521 [A/G] NM_014674 EDEM1 EXON Missense_R631H exm286972 3 5257572 [A/G] NM_014674 EDEM1 EXON Missense_R648Q exm2269395 3 5490708 [T/C] exm2265415 3 5719861 [A/G] exm2261518 3 5775231 [T/G] exm2269396 3 6245005 [T/C] exm2263980 3 6678484 [A/C] exm2261531 3 6764063 [T/C] exm2269601 3 7080267 [T/C] NM_000844,NM_181874 GRM7,GRM7 Silent,Silent exm2269397 3 7142227 [T/C] NM_000844,NM_181874 GRM7,GRM7 Silent,Silent exm287016 3 7188188 [A/G] NM_000844,NM_181874 GRM7,GRM7 EXON Missense_R190Q,Missense_R190Q exm-rs6768750 3 7240675 [A/G] NM_000844,NM_181874 GRM7,GRM7 Silent,Silent exm-rs13080594 3 7403646 [T/C] NM_000844,NM_181874 GRM7,GRM7 Silent,Silent exm287067 3 7494417 [A/T] NM_000844,NM_181874 GRM7,GRM7 EXON Missense_Y433F,Missense_Y433F exm287068 3 7494419 [T/C] NM_000844,NM_181874 GRM7,GRM7 EXON Missense_R434W,Missense_R434W exm287075 3 7503395 [A/G] NM_000844,NM_181874 GRM7,GRM7 EXON Missense_E501K,Missense_E501K exm2060735 3 7503408 [T/A] NM_000844,NM_181874 GRM7,GRM7 EXON Missense_N505I,Missense_N505I exm2269398 3 7511375 [T/C] NM_000844,NM_181874 GRM7,GRM7 Silent,Silent exm-rs9870680 3 7529555 [T/C] NM_000844,NM_181874 GRM7,GRM7 Silent,Silent exm287108 3 7620302 [A/G] NM_000844,NM_181874 GRM7,GRM7 EXON Missense_N570S,Missense_N570S exm287115 3 7620433 [T/C] NM_000844,NM_181874 GRM7,GRM7 EXON Missense_R614C,Missense_R614C exm287119 3 7620494 [T/C] NM_000844,NM_181874 GRM7,GRM7 EXON Missense_T634M,Missense_T634M exm287131 3 7620773 [A/G] NM_000844,NM_181874 GRM7,GRM7 EXON Missense_N727S,Missense_N727S exm287135 3 7620805 [A/G] NM_000844,NM_181874 GRM7,GRM7 EXON Missense_M738V,Missense_M738V exm287161 3 7721878 [T/C] NM_000844,NM_181874 GRM7,GRM7 EXON Missense_A865V,Missense_A865V exm-rs4591494 3 7982827 [T/C] exm2269399 3 8152315 [T/C] exm2269602 3 8243768 [T/C] exm287187 3 8574462 [T/C] NM_014583 LMCD1 EXON Missense_C28R exm2240121 3 8574478 [A/G] NM_014583 LMCD1 EXON Missense_G33E exm2060941 3 8574487 [T/C] NM_014583 LMCD1 EXON Missense_S36L exm287193 3 8578948 [C/G] NM_014583 LMCD1 EXON Missense_G70A exm287197 3 8579001 [A/G] NM_014583 LMCD1 EXON Missense_G88R exm287201 3 8579032 [A/G] NM_014583 LMCD1 EXON Missense_R98Q exm287202 3 8579053 [T/C] NM_014583 LMCD1 EXON Missense_I105T exm287205 3 8579116 [A/C] NM_014583 LMCD1 EXON Missense_T126N exm-rs9312025 3 8589906 [T/C] NM_014583 LMCD1 Silent exm287208 3 8590292 [T/G] NM_014583 LMCD1 EXON Missense_Q142H exm2060958 3 8590329 [T/C] NM_014583 LMCD1 EXON Missense_R155C exm287213 3 8590374 [T/C] NM_014583 LMCD1 EXON Missense_R170C exm287215 3 8590381 [A/G] NM_014583 LMCD1 EXON Missense_R172H exm287218 3 8590449 [A/G] NM_014583 LMCD1 EXON Missense_G195S exm287225 3 8590576 [A/G] NM_014583 LMCD1 EXON Missense_K237R exm287228 3 8607169 [T/G] NM_014583 LMCD1 EXON Missense_S259A exm287235 3 8607307 [T/C] NM_014583 LMCD1 EXON Missense_R305W exm287237 3 8609126 [A/G] NM_014583 LMCD1 EXON Missense_I314V exm287240 3 8609151 [A/G] NM_014583 LMCD1 EXON Missense_R322H exm287243 3 8609186 [A/G] NM_014583 LMCD1 EXON Missense_V334I exm287255 3 8609276 [T/C] NM_014583 LMCD1 EXON Missense_R364C exm2060985 3 8609277 [A/G] NM_014583 LMCD1 EXON Missense_R364H exm2060988 3 8661567 [C/G] NR_046358,NM_001256748,NM_015931,NM_001256749 SSUH2,SSUH2,SSUH2,SSUH2 EXON Silent,Missense_C372S,Missense_C350S,Missense_C299S exm2060990 3 8661578 [A/C] NR_046358,NM_001256748,NM_015931,NM_001256749 SSUH2,SSUH2,SSUH2,SSUH2 EXON Silent,Nonsense_Y368X,Nonsense_Y346X,Nonsense_Y295X exm287260 3 8661592 [A/G] NR_046358,NM_001256748,NM_015931,NM_001256749 SSUH2,SSUH2,SSUH2,SSUH2 EXON Silent,Missense_Y364H,Missense_Y342H,Missense_Y291H exm287268 3 8665254 [C/G] NR_046358,NM_001256748,NM_015931,NM_001256749 SSUH2,SSUH2,SSUH2,SSUH2 EXON Silent,Missense_R321P,Missense_R299P,Missense_R248P exm287277 3 8667232 [A/G] NR_046358,NM_001256748,NM_015931,NM_001256749 SSUH2,SSUH2,SSUH2,SSUH2 EXON Silent,Missense_S290L,Missense_S268L,Missense_S217L exm287280 3 8667299 [A/G] NR_046358,NM_001256748,NM_015931,NM_001256749 SSUH2,SSUH2,SSUH2,SSUH2 EXON Silent,Missense_R268W,Missense_R246W,Missense_R195W exm2240123 3 8667325 [T/C] NR_046358,NM_001256748,NM_015931,NM_001256749 SSUH2,SSUH2,SSUH2,SSUH2 EXON Silent,Missense_S259N,Missense_S237N,Missense_S186N exm2060999 3 8669388 [A/G] NR_046358,NM_001256748,NM_015931,NM_001256749 SSUH2,SSUH2,SSUH2,SSUH2 EXON Silent,Nonsense_R224X,Nonsense_R202X,Nonsense_R151X exm287293 3 8669402 [A/G] NR_046358,NM_001256748,NM_015931,NM_001256749 SSUH2,SSUH2,SSUH2,SSUH2 EXON Silent,Missense_A219V,Missense_A197V,Missense_A146V exm287304 3 8671361 [T/C] NR_046358,NM_001256748,NM_015931,NM_001256749 SSUH2,SSUH2,SSUH2,SSUH2 EXON Silent,Missense_G193R,Missense_G171R,Missense_G120R exm287312 3 8672534 [T/C] NR_046358,NM_001256748,NM_015931,NM_001256749 SSUH2,SSUH2,SSUH2,SSUH2 EXON Silent,Missense_E161G,Missense_E139G,Missense_E88G exm287315 3 8672586 [T/C] NR_046358,NM_001256748,NM_015931,NM_001256749 SSUH2,SSUH2,SSUH2,SSUH2 EXON Silent,Missense_A144T,Missense_A122T,Missense_A71T exm287320 3 8673791 [T/C] NR_046358,NM_001256748,NM_015931,NM_001256749 SSUH2,SSUH2,SSUH2,SSUH2 EXON Silent,Missense_R115H,Missense_R93H,Missense_R42H exm287325 3 8675382 [G/C] NR_046358,NM_001256748,NM_015931,NM_001256749 SSUH2,SSUH2,SSUH2,SSUH2 EXON Silent,Missense_I103M,Missense_I81M,Missense_I30M exm287330 3 8675447 [T/C] NR_046358,NM_001256748,NM_015931,NM_001256749 SSUH2,SSUH2,SSUH2,SSUH2 EXON Silent,Missense_A82T,Missense_A60T,Missense_A9T exm287331 3 8675452 [T/C] NR_046358,NM_001256748,NM_015931,NM_001256749 SSUH2,SSUH2,SSUH2,SSUH2 EXON Silent,Missense_R80Q,Missense_R58Q,Missense_R7Q exm287337 3 8675506 [A/G] NR_046358,NM_001256748,NM_015931,NM_001256749 SSUH2,SSUH2,SSUH2,SSUH2 EXON Silent,Silent,Missense_P40L,Silent exm287338 3 8675510 [T/G] NR_046358,NM_001256748,NM_015931,NM_001256749 SSUH2,SSUH2,SSUH2,SSUH2 EXON Silent,Silent,Missense_P39T,Silent exm287339 3 8675539 [A/G] NR_046358,NM_001256748,NM_015931,NM_001256749 SSUH2,SSUH2,SSUH2,SSUH2 EXON Silent,Silent,Missense_P29L,Silent exm2061012 3 8675560 [A/G] NR_046358,NM_001256748,NM_015931,NM_001256749 SSUH2,SSUH2,SSUH2,SSUH2 EXON Silent,Silent,Missense_T22M,Silent exm287340 3 8675567 [T/C] NR_046358,NM_001256748,NM_015931,NM_001256749 SSUH2,SSUH2,SSUH2,SSUH2 EXON Silent,Silent,Missense_A20T,Silent exm287342 3 8675584 [A/G] NR_046358,NM_001256748,NM_015931,NM_001256749 SSUH2,SSUH2,SSUH2,SSUH2 EXON Silent,Silent,Missense_P14L,Silent exm287362 3 8775602 [A/G] NM_033337,NM_001234 CAV3,CAV3 EXON Missense_V14I,Missense_V14I exm287374 3 8787263 [A/G] NM_033337,NM_001234 CAV3,CAV3 EXON Missense_G56S,Missense_G56S exm287376 3 8787313 [G/C] NM_033337,NM_001234 CAV3,CAV3 EXON Missense_C72W,Missense_C72W exm287377 3 8787330 [T/C] NM_033337,NM_001234 CAV3,CAV3 EXON Missense_T78M,Missense_T78M exm287380 3 8787341 [A/G] NM_033337,NM_001234 CAV3,CAV3 EXON Missense_V82I,Missense_V82I exm287382 3 8787357 [T/C] NM_033337,NM_001234 CAV3,CAV3 EXON Missense_L87P,Missense_L87P exm287394 3 8787540 [A/G] NM_033337,NM_001234 CAV3,CAV3 EXON Missense_R148Q,Missense_R148Q exm2240127 3 8794707 [G/C] NM_000916 OXTR EXON Missense_R376G exm287407 3 8794818 [T/C] NM_000916 OXTR EXON Missense_E339K exm287411 3 8794843 [T/C] NM_000916 OXTR EXON Missense_M330I exm2061079 3 8794870 [T/G] NM_000916 OXTR EXON Missense_N321K exm287414 3 8809033 [T/C] NM_000916 OXTR EXON Missense_V281M exm287417 3 8809119 [G/C] NM_000916 OXTR EXON Missense_G252A exm287423 3 8809190 [A/C] NM_000916 OXTR EXON Missense_W228C exm287424 3 8809213 [T/C] NM_000916 OXTR EXON Missense_G221S exm287426 3 8809222 [T/C] NM_000916 OXTR EXON Missense_A218T exm287428 3 8809258 [C/G] NM_000916 OXTR EXON Missense_L206V exm287431 3 8809359 [A/G] NM_000916 OXTR EXON Missense_V172A exm287450 3 8809741 [A/C] NM_000916 OXTR EXON Missense_V45L exm2265559 3 8864726 [A/G] exm2265416 3 8895531 [A/G] exm287459 3 8923099 [T/C] NM_020165 RAD18 EXON Missense_R477H exm287460 3 8923102 [T/C] NM_020165 RAD18 EXON Missense_R476H exm287463 3 8923119 [T/C] NM_020165 RAD18 EXON Missense_I470M exm287467 3 8940620 [A/G] NM_020165 RAD18 EXON Missense_I427T exm287471 3 8944099 [A/T] NM_020165 RAD18 EXON Missense_D378V exm287473 3 8944139 [A/C] NM_020165 RAD18 EXON Missense_A365S exm287474 3 8944169 [A/C] NM_020165 RAD18 EXON Missense_D355Y exm287479 3 8955375 [T/C] NM_020165 RAD18 EXON Missense_I307V exm287480 3 8955389 [T/C] NM_020165 RAD18 EXON Missense_R302Q exm287489 3 8983166 [A/T] NM_020165 RAD18 EXON Nonsense_K197X exm287492 3 8983189 [T/G] NM_020165 RAD18 EXON Missense_E189A exm287499 3 8983324 [A/G] NM_020165 RAD18 EXON Missense_S144F exm2061193 3 8983405 [T/C] NM_020165 RAD18 EXON Missense_Y117C exm287502 3 8983427 [T/C] NM_020165 RAD18 EXON Missense_K110E exm287515 3 8990246 [C/G] NM_020165 RAD18 EXON Missense_L48V exm2240137 3 9027262 [T/C] NM_001033117,NM_014850 SRGAP3,SRGAP3 EXON Missense_V1057M,Missense_V1081M exm287555 3 9032275 [A/G] NM_001033117,NM_014850 SRGAP3,SRGAP3 EXON Missense_S912L,Missense_S936L exm2256208 3 9032334 [T/C] NM_001033117,NM_014850 SRGAP3,SRGAP3 EXON Synonymous_T892T,Synonymous_T916T exm287559 3 9032348 [A/G] NM_001033117,NM_014850 SRGAP3,SRGAP3 EXON Missense_R888W,Missense_R912W exm287561 3 9032402 [T/C] NM_001033117,NM_014850 SRGAP3,SRGAP3 EXON Missense_S870G,Missense_S894G exm287567 3 9032486 [A/G] NM_001033117,NM_014850 SRGAP3,SRGAP3 EXON Missense_R842C,Missense_R866C exm2275652 3 9034605 [A/C] NM_001033117,NM_014850 SRGAP3,SRGAP3 EXON Missense_G824V,Missense_G848V exm2256209 3 9034724 [A/G] NM_001033117,NM_014850 SRGAP3,SRGAP3 EXON Synonymous_S784S,Synonymous_S808S exm2240138 3 9055458 [T/C] NM_001033117,NM_014850 SRGAP3,SRGAP3 EXON Missense_I604V,Missense_I628V exm287616 3 9074342 [A/G] NM_001033117,NM_014850 SRGAP3,SRGAP3 EXON Silent,Missense_F511L exm2269400 3 9074843 [T/C] NM_001033117,NM_014850 SRGAP3,SRGAP3 Silent,Silent exm287639 3 9097991 [T/C] NM_001033117,NM_014850 SRGAP3,SRGAP3 EXON Missense_V351I,Missense_V351I exm287667 3 9146455 [T/C] NM_001033117,NM_014850 SRGAP3,SRGAP3 EXON Missense_R111Q,Missense_R111Q exm287697 3 9408625 [A/G] NM_015453,NM_001114092 THUMPD3,THUMPD3 EXON Missense_V96M,Missense_V96M exm287698 3 9408626 [T/C] NM_015453,NM_001114092 THUMPD3,THUMPD3 EXON Missense_V96A,Missense_V96A exm287699 3 9408637 [G/C] NM_015453,NM_001114092 THUMPD3,THUMPD3 EXON Missense_E100Q,Missense_E100Q exm287701 3 9408659 [A/G] NM_015453,NM_001114092 THUMPD3,THUMPD3 EXON Missense_K107R,Missense_K107R exm287702 3 9408662 [A/C] NM_015453,NM_001114092 THUMPD3,THUMPD3 EXON Missense_Q108P,Missense_Q108P exm287705 3 9412826 [A/G] NM_015453,NM_001114092 THUMPD3,THUMPD3 EXON Missense_S138N,Missense_S138N exm287715 3 9413122 [A/G] NM_015453,NM_001114092 THUMPD3,THUMPD3 EXON Missense_K237E,Missense_K237E exm287720 3 9416254 [A/G] NM_015453,NM_001114092 THUMPD3,THUMPD3 EXON Missense_E288K,Missense_E288K exm287728 3 9422207 [G/C] NM_015453,NM_001114092 THUMPD3,THUMPD3 EXON Missense_D343E,Missense_D343E exm287733 3 9424945 [T/G] NM_015453,NM_001114092 THUMPD3,THUMPD3 EXON Missense_R396I,Missense_R396I exm287738 3 9425907 [A/G] NM_015453,NM_001114092 THUMPD3,THUMPD3 EXON Missense_K416R,Missense_K416R exm287741 3 9425933 [T/G] NM_015453,NM_001114092 THUMPD3,THUMPD3 EXON Missense_A425S,Missense_A425S exm287745 3 9426002 [A/G] NM_015453,NM_001114092 THUMPD3,THUMPD3 EXON Missense_T448A,Missense_T448A exm287747 3 9426015 [T/C] NM_015453,NM_001114092 THUMPD3,THUMPD3 EXON Missense_T452I,Missense_T452I exm287749 3 9426209 [T/C] NM_015453,NM_001114092 THUMPD3,THUMPD3 EXON Missense_A454V,Missense_A454V exm287753 3 9426235 [T/C] NM_015453,NM_001114092 THUMPD3,THUMPD3 EXON Nonsense_R463X,Nonsense_R463X exm287758 3 9426337 [A/G] NM_015453,NM_001114092 THUMPD3,THUMPD3 EXON Missense_G497R,Missense_G497R exm287766 3 9470657 [T/C] NM_001080517 SETD5 EXON Missense_S12L exm287772 3 9476070 [A/G] NM_001080517 SETD5 EXON Missense_R77H exm287817 3 9489593 [G/C] NM_001080517 SETD5 EXON Missense_G669A exm287821 3 9490275 [T/G] NM_001080517 SETD5 EXON Missense_R769S exm287822 3 9495424 [A/G] NM_001080517 SETD5 EXON Missense_R783H exm287833 3 9506277 [A/G] NM_001080517 SETD5 EXON Missense_R882Q exm287834 3 9506285 [T/C] NM_001080517 SETD5 EXON Missense_Y885H exm287844 3 9512284 [A/T] NM_001080517 SETD5 EXON Missense_T956S exm287845 3 9512345 [G/C] NM_001080517 SETD5 EXON Missense_A976G exm287852 3 9512534 [A/G] NM_001080517 SETD5 EXON Missense_R1039H exm287856 3 9514984 [A/G] NM_001080517 SETD5 EXON Missense_G1087D exm2061431 3 9515062 [A/G] NM_001080517 SETD5 EXON Missense_H1113R exm287868 3 9515133 [A/G] NM_001080517 SETD5 EXON Missense_M1137V exm287875 3 9517217 [G/C] NM_001080517 SETD5 EXON Missense_Q1257H exm287880 3 9517369 [T/C] NM_001080517 SETD5 EXON Missense_T1308I exm287881 3 9517375 [T/C] NM_001080517 SETD5 EXON Missense_S1310L exm287884 3 9517390 [T/C] NM_001080517 SETD5 EXON Missense_T1315M exm287889 3 9517561 [T/C] NM_001080517 SETD5 EXON Missense_T1372I exm2273891 3 9517606 [A/G] NM_001080517 SETD5 EXON Missense_R1387Q exm287897 3 9517726 [T/C] NM_001080517 SETD5 EXON Missense_L1427P exm287947 3 9714369 [T/C] NM_022485,NM_001077526,NM_001077525 MTMR14,MTMR14,MTMR14 EXON Synonymous_N226N,Synonymous_N226N,Synonymous_N226N exm287949 3 9714412 [A/G] NM_022485,NM_001077526,NM_001077525 MTMR14,MTMR14,MTMR14 EXON Missense_D241N,Missense_D241N,Missense_D241N exm287951 3 9714418 [A/G] NM_022485,NM_001077526,NM_001077525 MTMR14,MTMR14,MTMR14 EXON Missense_T243A,Missense_T243A,Missense_T243A exm287954 3 9719029 [A/T] NM_022485,NM_001077526,NM_001077525 MTMR14,MTMR14,MTMR14 EXON Missense_D260E,Missense_D260E,Missense_D260E exm287964 3 9724926 [T/A] NM_022485,NM_001077526,NM_001077525 MTMR14,MTMR14,MTMR14 EXON Missense_D321V,Missense_D321V,Missense_D321V exm287970 3 9726588 [T/C] NM_022485,NM_001077526,NM_001077525 MTMR14,MTMR14,MTMR14 EXON Missense_T356M,Missense_T356M,Missense_T356M exm287973 3 9726918 [A/G] NM_022485,NM_001077526,NM_001077525 MTMR14,MTMR14,MTMR14 EXON Missense_S384N,Missense_S384N,Missense_S384N exm287991 3 9731692 [A/G] NM_022485,NM_001077526,NM_001077525 MTMR14,MTMR14,MTMR14 EXON Silent,Missense_R493Q,Missense_R493Q exm287996 3 9739439 [A/G] NM_022485,NM_001077526,NM_001077525 MTMR14,MTMR14,MTMR14 EXON Silent,Silent,Missense_Y553C exm2240155 3 9739483 [T/C] NM_022485,NM_001077526,NM_001077525 MTMR14,MTMR14,MTMR14 EXON Silent,Silent,Missense_R568W exm2061553 3 9739550 [T/A] NM_022485,NM_001077526,NM_001077525 MTMR14,MTMR14,MTMR14 EXON Silent,Silent,Missense_L590Q exm288010 3 9743632 [A/G] NM_022485,NM_001077526,NM_001077525 MTMR14,MTMR14,MTMR14 EXON Missense_R531Q,Missense_R591Q,Missense_R643Q exm288016 3 9746438 [G/C] NM_153635 CPNE9 EXON Missense_V39L exm288017 3 9746457 [A/G] NM_153635 CPNE9 EXON Missense_R45Q exm288025 3 9746676 [A/T] NM_153635 CPNE9 EXON Missense_D86E exm2061573 3 9746678 [T/C] NM_153635 CPNE9 EXON Missense_V87A exm2256223 3 9756976 [T/C] NM_153635 CPNE9 EXON Synonymous_H232H exm2240159 3 9758780 [T/C] NM_153635 CPNE9 EXON Missense_A308V exm288069 3 9767710 [T/C] NM_153635 CPNE9 EXON Missense_T440M exm288075 3 9768827 [A/G] NM_153635 CPNE9 EXON Missense_R478H exm288108 3 9776324 [A/G] NM_004634,NM_001003694 BRPF1,BRPF1 EXON Missense_N167S,Missense_N167S exm288111 3 9780683 [A/G] NM_004634,NM_001003694 BRPF1,BRPF1 EXON Synonymous_R200R,Synonymous_R200R exm288133 3 9781502 [T/G] NM_004634,NM_001003694 BRPF1,BRPF1 EXON Missense_D473E,Missense_D473E exm288165 3 9785283 [T/G] NM_004634,NM_001003694 BRPF1,BRPF1 EXON Missense_V772G,Missense_V778G exm288167 3 9785304 [A/C] NM_004634,NM_001003694 BRPF1,BRPF1 EXON Missense_H779P,Missense_H785P exm288180 3 9785492 [T/C] NM_004634,NM_001003694 BRPF1,BRPF1 EXON Missense_R842W,Missense_R848W exm288181 3 9785493 [A/G] NM_004634,NM_001003694 BRPF1,BRPF1 EXON Missense_R842Q,Missense_R848Q exm288184 3 9785937 [A/G] NM_004634,NM_001003694 BRPF1,BRPF1 EXON Missense_A883T,Missense_A889T exm288214 3 9787497 [A/G] NM_004634,NM_001003694 BRPF1,BRPF1 EXON Missense_M1063I,Missense_M1069I exm288235 3 9792107 [A/G] NM_016829,NM_002542,NM_016820,NM_016826,NM_016821,NM_016828,NM_016819,NM_016827 OGG1,OGG1,OGG1,OGG1,OGG1,OGG1,OGG1,OGG1 EXON Missense_R46Q,Missense_R46Q,Missense_R46Q,Missense_R46Q,Missense_R46Q,Missense_R46Q,Missense_R46Q,Missense_R46Q exm288240 3 9792643 [C/G] NM_016829,NM_002542,NM_016820,NM_016826,NM_016821,NM_016828,NM_016819,NM_016827 OGG1,OGG1,OGG1,OGG1,OGG1,OGG1,OGG1,OGG1 EXON Missense_S51T,Missense_S51T,Missense_S51T,Missense_S51T,Missense_S51T,Missense_S51T,Missense_S51T,Missense_S51T exm288244 3 9792744 [T/G] NM_016829,NM_002542,NM_016820,NM_016826,NM_016821,NM_016828,NM_016819,NM_016827 OGG1,OGG1,OGG1,OGG1,OGG1,OGG1,OGG1,OGG1 EXON Missense_A85S,Missense_A85S,Missense_A85S,Missense_A85S,Missense_A85S,Missense_A85S,Missense_A85S,Missense_A85S exm288261 3 9793529 [A/G] NM_016829,NM_002542,NM_016820,NM_016826,NM_016821,NM_016828,NM_016819,NM_016827 OGG1,OGG1,OGG1,OGG1,OGG1,OGG1,OGG1,OGG1 EXON Missense_R154H,Missense_R154H,Missense_R154H,Missense_R154H,Missense_R154H,Missense_R154H,Missense_R154H,Missense_R154H exm288268 3 9796411 [A/T] NM_016829,NM_002542,NM_016820,NM_016826,NM_016821,NM_016828,NM_016819,NM_016827 OGG1,OGG1,OGG1,OGG1,OGG1,OGG1,OGG1,OGG1 EXON Missense_R197W,Missense_R197W,Missense_R197W,Missense_R197W,Missense_R197W,Missense_R197W,Missense_R197W,Silent exm288275 3 9796508 [A/G] NM_016829,NM_002542,NM_016820,NM_016826,NM_016821,NM_016828,NM_016819,NM_016827 OGG1,OGG1,OGG1,OGG1,OGG1,OGG1,OGG1,OGG1 EXON Missense_R229Q,Missense_R229Q,Missense_R229Q,Missense_R229Q,Missense_R229Q,Missense_R229Q,Missense_R229Q,Silent exm288276 3 9796510 [G/C] NM_016829,NM_002542,NM_016820,NM_016826,NM_016821,NM_016828,NM_016819,NM_016827 OGG1,OGG1,OGG1,OGG1,OGG1,OGG1,OGG1,OGG1 EXON Missense_E230Q,Missense_E230Q,Missense_E230Q,Missense_E230Q,Missense_E230Q,Missense_E230Q,Missense_E230Q,Silent exm288280 3 9798270 [T/C] NM_016829,NM_002542,NM_016820,NM_016826,NM_016821,NM_016828,NM_016819,NM_016827 OGG1,OGG1,OGG1,OGG1,OGG1,OGG1,OGG1,OGG1 EXON Missense_A288V,Missense_A288V,Missense_A288V,Silent,Missense_A288V,Missense_A288V,Missense_A288V,Silent exm288284 3 9798475 [A/G] NM_016829,NM_002542,NM_016820,NM_016826,NM_016821,NM_016828,NM_016819,NM_016827 OGG1,OGG1,OGG1,OGG1,OGG1,OGG1,OGG1,OGG1 EXON Missense_G308E,Missense_G308E,Missense_G308E,Silent,Missense_G308E,Missense_G308E,Missense_G308E,Silent exm288285 3 9798499 [T/C] NM_016829,NM_002542,NM_016820,NM_016826,NM_016821,NM_016828,NM_016819,NM_016827 OGG1,OGG1,OGG1,OGG1,OGG1,OGG1,OGG1,OGG1 EXON Missense_A316V,Missense_A316V,Missense_A316V,Silent,Missense_A316V,Missense_A316V,Missense_A316V,Silent exm288286 3 9798740 [T/C] NM_016829,NM_002542,NM_016820,NM_016826,NM_016821,NM_016828,NM_016819,NM_016827 OGG1,OGG1,OGG1,OGG1,OGG1,OGG1,OGG1,OGG1 EXON Silent,Silent,Missense_Y321H,Silent,Silent,Silent,Silent,Silent exm288287 3 9798745 [A/G] NM_016829,NM_002542,NM_016820,NM_016826,NM_016821,NM_016828,NM_016819,NM_016827 OGG1,OGG1,OGG1,OGG1,OGG1,OGG1,OGG1,OGG1 EXON Silent,Missense_V317M,Synonymous_R322R,Silent,Silent,Silent,Silent,Silent exm288288 3 9798760 [A/G] NM_016829,NM_002542,NM_016820,NM_016826,NM_016821,NM_016828,NM_016819,NM_016827 OGG1,OGG1,OGG1,OGG1,OGG1,OGG1,OGG1,OGG1 EXON Silent,Missense_D322N,Synonymous_P327P,Silent,Silent,Silent,Silent,Silent exm2061828 3 9798771 [A/G] NM_016829,NM_002542,NM_016820,NM_016826,NM_016821,NM_016828,NM_016819,NM_016827 OGG1,OGG1,OGG1,OGG1,OGG1,OGG1,OGG1,OGG1 EXON Silent,Synonymous_Q325Q,Missense_N331S,Silent,Silent,Silent,Silent,Silent exm288298 3 9799282 [A/G] NM_016829,NM_016826,NM_016821,NM_016828,NM_016827,NM_003656 OGG1,OGG1,OGG1,OGG1,OGG1,CAMK1 EXON Silent,Silent,Silent,Silent,Silent,Nonsense_R352X exm288310 3 9800893 [T/C] NM_016829,NM_016826,NM_016821,NM_016828,NM_016827,NM_003656 OGG1,OGG1,OGG1,OGG1,OGG1,CAMK1 EXON Silent,Silent,Silent,Missense_F324S,Silent,Silent exm288311 3 9800918 [A/G] NM_016829,NM_016826,NM_016821,NM_016828,NM_016827,NM_003656 OGG1,OGG1,OGG1,OGG1,OGG1,CAMK1 EXON Missense_A317T,Silent,Silent,Synonymous_R332R,Silent,Silent exm288343 3 9804859 [T/C] NM_016829,NM_016826,NM_016821,NM_016828,NM_016827,NM_003656 OGG1,OGG1,OGG1,OGG1,OGG1,CAMK1 EXON Silent,Silent,Silent,Silent,Silent,Missense_Y85C exm288344 3 9804868 [T/C] NM_016829,NM_016826,NM_016821,NM_016828,NM_016827,NM_003656 OGG1,OGG1,OGG1,OGG1,OGG1,CAMK1 EXON Silent,Silent,Silent,Silent,Silent,Missense_D82G exm288353 3 9807587 [A/G] NM_016829,NM_016826,NM_016821,NM_016828,NM_016827,NM_003656 OGG1,OGG1,OGG1,OGG1,OGG1,CAMK1 EXON Silent,Missense_G281E,Missense_G348E,Silent,Silent,Silent exm288356 3 9807733 [A/C] NM_016829,NM_016826,NM_016821,NM_016828,NM_016827,NM_003656 OGG1,OGG1,OGG1,OGG1,OGG1,CAMK1 EXON Silent,Missense_M330L,Missense_M397L,Silent,Silent,Silent exm288365 3 9809418 [C/G] NM_003656 CAMK1 EXON Missense_E6Q exm288366 3 9809426 [T/C] NM_003656 CAMK1 EXON Missense_G3E exm288408 3 9831246 [A/G] NM_006354,NM_133480 TADA3,TADA3 EXON Missense_R171C,Missense_R171C exm2256232 3 9831432 [A/G] NM_006354,NM_133480 TADA3,TADA3 EXON Synonymous_D141D,Synonymous_D141D exm288464 3 9854630 [A/C] NM_001198793,NM_001025930,NR_037162 ARPC4-TTLL3,TTLL3,TTLL3 EXON Missense_K112Q,Missense_K161Q,Silent exm288467 3 9854682 [A/G] NM_001198793,NM_001025930,NR_037162 ARPC4-TTLL3,TTLL3,TTLL3 EXON Missense_R129H,Missense_R178H,Silent exm288474 3 9854952 [A/G] NM_001198793,NM_001025930,NR_037162 ARPC4-TTLL3,TTLL3,TTLL3 EXON Missense_E174K,Missense_E223K,Silent exm288484 3 9859350 [T/C] NM_001198793,NM_001025930,NR_037162 ARPC4-TTLL3,TTLL3,TTLL3 EXON Missense_R207W,Missense_R256W,Silent exm288487 3 9859364 [A/G] NM_001198793,NM_001025930,NR_037162 ARPC4-TTLL3,TTLL3,TTLL3 EXON Nonsense_W211X,Nonsense_W260X,Silent exm288488 3 9859377 [C/G] NM_001198793,NM_001025930,NR_037162 ARPC4-TTLL3,TTLL3,TTLL3 EXON Missense_D216H,Missense_D265H,Silent exm288494 3 9860529 [T/C] NM_001198793,NM_001025930,NR_037162 ARPC4-TTLL3,TTLL3,TTLL3 EXON Silent,Missense_R295C,Silent exm2273893 3 9860595 [A/G] NM_001198793,NM_001025930,NR_037162 ARPC4-TTLL3,TTLL3,TTLL3 EXON Silent,Missense_E317K,Silent exm288498 3 9862274 [A/T] NM_001198793,NM_001025930,NR_037162 ARPC4-TTLL3,TTLL3,TTLL3 EXON Missense_S253T,Missense_S335T,Silent exm288501 3 9862346 [A/G] NM_001198793,NM_001025930,NR_037162 ARPC4-TTLL3,TTLL3,TTLL3 EXON Missense_D277N,Missense_D359N,Silent exm288506 3 9867484 [T/C] NM_001198793,NM_001025930,NR_037162 ARPC4-TTLL3,TTLL3,TTLL3 EXON Synonymous_H303H,Synonymous_H385H,Silent exm288511 3 9867629 [T/C] NM_001198793,NM_001025930,NR_037162 ARPC4-TTLL3,TTLL3,TTLL3 EXON Nonsense_R352X,Nonsense_R434X,Silent exm288516 3 9868737 [A/G] NM_001198793,NM_001025930,NR_037162 ARPC4-TTLL3,TTLL3,TTLL3 EXON Missense_V372M,Missense_V454M,Silent exm288527 3 9868857 [A/G] NM_001198793,NM_001025930,NR_037162 ARPC4-TTLL3,TTLL3,TTLL3 EXON Missense_V412M,Missense_V494M,Silent exm288528 3 9868869 [T/C] NM_001198793,NM_001025930,NR_037162 ARPC4-TTLL3,TTLL3,TTLL3 EXON Missense_R416C,Missense_R498C,Silent exm288529 3 9868870 [A/G] NM_001198793,NM_001025930,NR_037162 ARPC4-TTLL3,TTLL3,TTLL3 EXON Missense_R416H,Missense_R498H,Silent exm288532 3 9868894 [T/C] NM_001198793,NM_001025930,NR_037162 ARPC4-TTLL3,TTLL3,TTLL3 EXON Missense_T424M,Missense_T506M,Silent exm288542 3 9870700 [A/G] NM_001198793,NM_001025930,NR_037162 ARPC4-TTLL3,TTLL3,TTLL3 EXON Missense_R453Q,Missense_R535Q,Silent exm288550 3 9870862 [A/G] NM_001198793,NM_001025930,NR_037162 ARPC4-TTLL3,TTLL3,TTLL3 EXON Missense_R507Q,Missense_R589Q,Silent exm288555 3 9870958 [A/C] NM_001198793,NM_001025930,NR_037162 ARPC4-TTLL3,TTLL3,TTLL3 EXON Missense_P539H,Missense_P621H,Silent exm288556 3 9870973 [A/C] NM_001198793,NM_001025930,NR_037162 ARPC4-TTLL3,TTLL3,TTLL3 EXON Missense_T544N,Missense_T626N,Silent exm288558 3 9870991 [C/G] NM_001198793,NM_001025930,NR_037162 ARPC4-TTLL3,TTLL3,TTLL3 EXON Missense_G550A,Missense_G632A,Silent exm288563 3 9871030 [T/G] NM_001198793,NM_001025930,NR_037162 ARPC4-TTLL3,TTLL3,TTLL3 EXON Missense_M563R,Missense_M645R,Silent exm288564 3 9871038 [T/C] NM_001198793,NM_001025930,NR_037162 ARPC4-TTLL3,TTLL3,TTLL3 EXON Missense_R566C,Missense_R648C,Silent exm288575 3 9874914 [T/C] NM_001198793,NM_001025930,NR_037162 ARPC4-TTLL3,TTLL3,TTLL3 EXON Silent,Nonsense_R704X,Silent exm288584 3 9876512 [T/C] NM_001198793,NM_001025930,NR_037162 ARPC4-TTLL3,TTLL3,TTLL3 EXON Silent,Missense_L758P,Silent exm288591 3 9876800 [A/G] NM_001198793,NM_001025930,NR_037162 ARPC4-TTLL3,TTLL3,TTLL3 EXON Silent,Missense_R792Q,Silent exm288593 3 9876845 [T/C] NM_001198793,NM_001025930,NR_037162 ARPC4-TTLL3,TTLL3,TTLL3 EXON Silent,Missense_S807L,Silent exm288598 3 9876919 [A/G] NM_001198793,NM_001025930,NR_037162 ARPC4-TTLL3,TTLL3,TTLL3 EXON Silent,Missense_A832T,Silent exm288606 3 9877087 [T/A] NM_001198793,NM_001025930,NR_037162 ARPC4-TTLL3,TTLL3,TTLL3 EXON Silent,Missense_Y888N,Silent exm288607 3 9877127 [T/C] NM_001198793,NM_001025930,NR_037162 ARPC4-TTLL3,TTLL3,TTLL3 EXON Silent,Missense_V901A,Silent exm288610 3 9877151 [T/C] NM_001198793,NM_001025930,NR_037162 ARPC4-TTLL3,TTLL3,TTLL3 EXON Silent,Missense_P909L,Silent exm288616 3 9879810 [A/G] NM_001142547,NM_173659 RPUSD3,RPUSD3 EXON Missense_R301W,Missense_R316W exm288617 3 9879813 [A/G] NM_001142547,NM_173659 RPUSD3,RPUSD3 EXON Missense_H300Y,Missense_H315Y exm288623 3 9880781 [A/G] NM_001142547,NM_173659 RPUSD3,RPUSD3 EXON Missense_R252C,Missense_R267C exm2062073 3 9881921 [T/C] NM_001142547,NM_173659 RPUSD3,RPUSD3 EXON Missense_R209H,Missense_R224H exm288636 3 9882215 [T/C] NM_001142547,NM_173659 RPUSD3,RPUSD3 Silent,Silent exm288638 3 9882275 [G/C] NM_001142547,NM_173659 RPUSD3,RPUSD3 EXON Missense_A166P,Missense_A181P exm288645 3 9882473 [T/C] NM_001142547,NM_173659 RPUSD3,RPUSD3 EXON Missense_V127I,Missense_V142I exm288647 3 9883679 [T/C] NM_001142547,NM_173659 RPUSD3,RPUSD3 EXON Missense_R117Q,Missense_R132Q exm288650 3 9883697 [T/C] NM_001142547,NM_173659 RPUSD3,RPUSD3 EXON Missense_Q111R,Missense_Q126R exm288651 3 9883709 [T/C] NM_001142547,NM_173659 RPUSD3,RPUSD3 EXON Missense_G107E,Missense_G122E exm288660 3 9885205 [T/C] NM_001142547,NM_173659 RPUSD3,RPUSD3 EXON Missense_N69S,Missense_N69S exm288664 3 9885285 [T/C] NM_001142547,NM_173659 RPUSD3,RPUSD3 EXON Synonymous_R42R,Synonymous_R42R exm288672 3 9885650 [A/G] NM_001142547,NM_173659 RPUSD3,RPUSD3 EXON Missense_R17W,Missense_R17W exm288683 3 9908888 [A/G] NM_001199552,NM_022094,NM_001199623,NM_001199551 CIDEC,CIDEC,CIDEC,CIDEC EXON Missense_T216M,Missense_T216M,Missense_T229M,Missense_T226M exm288694 3 9908970 [A/G] NM_001199552,NM_022094,NM_001199623,NM_001199551 CIDEC,CIDEC,CIDEC,CIDEC EXON Missense_R189C,Missense_R189C,Missense_R202C,Missense_R199C exm288708 3 9911717 [T/C] NM_001199552,NM_022094,NM_001199623,NM_001199551 CIDEC,CIDEC,CIDEC,CIDEC EXON Missense_A135T,Missense_A135T,Missense_A148T,Missense_A145T exm288717 3 9912149 [T/G] NM_001199552,NM_022094,NM_001199623,NM_001199551 CIDEC,CIDEC,CIDEC,CIDEC EXON Silent,Silent,Silent,Missense_P73T exm288722 3 9918776 [A/G] NM_001199552,NM_022094,NM_001199623,NM_001199551 CIDEC,CIDEC,CIDEC,CIDEC EXON Missense_Y61H,Missense_Y61H,Missense_Y74H,Missense_Y61H exm2062110 3 9918782 [T/C] NM_001199552,NM_022094,NM_001199623,NM_001199551 CIDEC,CIDEC,CIDEC,CIDEC EXON Missense_M59V,Missense_M59V,Missense_M72V,Missense_M59V exm288725 3 9918811 [A/G] NM_001199552,NM_022094,NM_001199623,NM_001199551 CIDEC,CIDEC,CIDEC,CIDEC EXON Missense_T49M,Missense_T49M,Missense_T62M,Missense_T49M exm288726 3 9918818 [T/C] NM_001199552,NM_022094,NM_001199623,NM_001199551 CIDEC,CIDEC,CIDEC,CIDEC EXON Missense_V47I,Missense_V47I,Missense_V60I,Missense_V47I exm288727 3 9918839 [A/G] NM_001199552,NM_022094,NM_001199623,NM_001199551 CIDEC,CIDEC,CIDEC,CIDEC EXON Missense_P40S,Missense_P40S,Missense_P53S,Missense_P40S exm288733 3 9920128 [T/A] NM_001199552,NM_022094,NM_001199623,NM_001199551 CIDEC,CIDEC,CIDEC,CIDEC EXON Missense_S15T,Missense_S15T,Missense_S28T,Missense_S15T exm288739 3 9932407 [A/G] NM_032492 JAGN1 EXON Missense_M1V exm2062113 3 9932458 [A/C] NM_032492 JAGN1 EXON Missense_Q18K exm288758 3 9934753 [A/G] NM_032492 JAGN1 EXON Missense_I82V exm288766 3 9934912 [A/G] NM_032492 JAGN1 EXON Missense_A135T exm288787 3 9944636 [T/C] NM_153483,NM_153480,NM_001193380 IL17RE,IL17RE,IL17RE EXON Missense_A47V,Missense_A7V,Missense_A7V exm288792 3 9944702 [A/G] NM_153483,NM_153480,NM_001193380 IL17RE,IL17RE,IL17RE EXON Missense_R69H,Missense_R29H,Missense_R29H exm2062120 3 9944726 [A/G] NM_153483,NM_153480,NM_001193380 IL17RE,IL17RE,IL17RE EXON Missense_R77H,Missense_R37H,Missense_R37H exm288810 3 9948059 [A/G] NM_153483,NM_153480,NM_001193380 IL17RE,IL17RE,IL17RE EXON Missense_G134S,Missense_G94S,Missense_G94S exm288815 3 9948480 [A/G] NM_153483,NM_153480,NM_001193380 IL17RE,IL17RE,IL17RE EXON Missense_K193E,Missense_K153E,Missense_K153E exm288819 3 9948648 [A/C] NM_153483,NM_153480,NM_001193380 IL17RE,IL17RE,IL17RE EXON Missense_P217H,Missense_P177H,Missense_P177H exm288823 3 9948774 [A/G] NM_153483,NM_153480,NM_001193380 IL17RE,IL17RE,IL17RE EXON Missense_Y259C,Missense_Y219C,Missense_Y219C exm288825 3 9948783 [T/A] NM_153483,NM_153480,NM_001193380 IL17RE,IL17RE,IL17RE EXON Missense_Q262L,Missense_Q222L,Missense_Q222L exm288838 3 9952559 [A/C] NM_153483,NM_153480,NM_001193380 IL17RE,IL17RE,IL17RE EXON Missense_D311E,Missense_D271E,Missense_D271E exm288842 3 9952627 [A/G] NM_153483,NM_153480,NM_001193380 IL17RE,IL17RE,IL17RE EXON Missense_R334H,Missense_R294H,Missense_R294H exm288845 3 9952668 [A/G] NM_153483,NM_153480,NM_001193380 IL17RE,IL17RE,IL17RE EXON Missense_D348N,Missense_D308N,Missense_D308N exm288855 3 9953171 [A/C] NM_153483,NM_153480,NM_001193380 IL17RE,IL17RE,IL17RE EXON Missense_Q413K,Missense_Q373K,Missense_Q373K exm288861 3 9953248 [A/C] NM_153483,NM_153480,NM_001193380 IL17RE,IL17RE,IL17RE EXON Missense_D438E,Missense_D398E,Missense_D398E exm288862 3 9953258 [T/C] NM_153483,NM_153480,NM_001193380 IL17RE,IL17RE,IL17RE EXON Missense_P442S,Missense_P402S,Missense_P402S exm288867 3 9955647 [A/G] NM_153483,NM_153480,NM_001193380 IL17RE,IL17RE,IL17RE EXON Missense_G452D,Missense_G412D,Missense_G412D exm288868 3 9955661 [T/A] NM_153483,NM_153480,NM_001193380 IL17RE,IL17RE,IL17RE EXON Missense_S457T,Missense_S417T,Missense_S417T exm288871 3 9956279 [A/G] NM_153483,NM_153480,NM_001193380 IL17RE,IL17RE,IL17RE EXON Synonymous_P488P,Synonymous_P448P,Missense_G473R exm288875 3 9956450 [A/G] NM_153483,NM_153480,NM_001193380 IL17RE,IL17RE,IL17RE EXON Missense_R519H,Missense_R479H,Synonymous_A503A exm288879 3 9956938 [C/G] NM_153483,NM_153480,NM_001193380 IL17RE,IL17RE,IL17RE EXON Missense_P524R,Missense_P484R,Synonymous_P508P exm2256236 3 9959033 [T/C] NM_032732,NM_001203263,NR_037807,NM_001203264,NM_001203265,NM_153460,NM_153461 IL17RC,IL17RC,IL17RC,IL17RC,IL17RC,IL17RC,IL17RC EXON Synonymous_L12L,Synonymous_L12L,Silent,Synonymous_L12L,Synonymous_L12L,Synonymous_L12L,Synonymous_L12L exm288903 3 9959033 [T/C] NM_032732,NM_001203263,NR_037807,NM_001203264,NM_001203265,NM_153460,NM_153461 IL17RC,IL17RC,IL17RC,IL17RC,IL17RC,IL17RC,IL17RC EXON Synonymous_L12L,Synonymous_L12L,Silent,Synonymous_L12L,Synonymous_L12L,Synonymous_L12L,Synonymous_L12L exm288909 3 9959160 [A/G] NM_032732,NM_001203263,NR_037807,NM_001203264,NM_001203265,NM_153460,NM_153461 IL17RC,IL17RC,IL17RC,IL17RC,IL17RC,IL17RC,IL17RC EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_Q54R exm2062202 3 9959166 [A/G] NM_032732,NM_001203263,NR_037807,NM_001203264,NM_001203265,NM_153460,NM_153461 IL17RC,IL17RC,IL17RC,IL17RC,IL17RC,IL17RC,IL17RC EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_S56N exm288917 3 9959410 [A/G] NM_032732,NM_001203263,NR_037807,NM_001203264,NM_001203265,NM_153460,NM_153461 IL17RC,IL17RC,IL17RC,IL17RC,IL17RC,IL17RC,IL17RC EXON Missense_R40H,Missense_R40H,Silent,Missense_R40H,Missense_R40H,Missense_R40H,Missense_R111H exm288923 3 9959640 [T/C] NM_032732,NM_001203263,NR_037807,NM_001203264,NM_001203265,NM_153460,NM_153461 IL17RC,IL17RC,IL17RC,IL17RC,IL17RC,IL17RC,IL17RC EXON Missense_V54A,Missense_V54A,Silent,Missense_V54A,Missense_V54A,Missense_V54A,Missense_V125A exm288931 3 9959687 [G/C] NM_032732,NM_001203263,NR_037807,NM_001203264,NM_001203265,NM_153460,NM_153461 IL17RC,IL17RC,IL17RC,IL17RC,IL17RC,IL17RC,IL17RC EXON Missense_L70V,Missense_L70V,Silent,Missense_L70V,Missense_L70V,Missense_L70V,Missense_L141V exm288936 3 9959753 [A/G] NM_032732,NM_001203263,NR_037807,NM_001203264,NM_001203265,NM_153460,NM_153461 IL17RC,IL17RC,IL17RC,IL17RC,IL17RC,IL17RC,IL17RC EXON Missense_V92M,Missense_V92M,Silent,Missense_V92M,Missense_V92M,Missense_V92M,Missense_V163M exm288939 3 9960070 [T/C] NM_032732,NM_001203263,NR_037807,NM_001203264,NM_001203265,NM_153460,NM_153461 IL17RC,IL17RC,IL17RC,IL17RC,IL17RC,IL17RC,IL17RC EXON Missense_S111L,Missense_S111L,Silent,Missense_S111L,Missense_S111L,Missense_S111L,Missense_S182L exm288940 3 9960273 [C/G] NM_032732,NM_001203263,NR_037807,NM_001203264,NM_001203265,NM_153460,NM_153461 IL17RC,IL17RC,IL17RC,IL17RC,IL17RC,IL17RC,IL17RC EXON Missense_V149L,Missense_V149L,Silent,Missense_V149L,Missense_V149L,Missense_V149L,Missense_V220L exm288949 3 9965576 [T/C] NM_032732,NM_001203263,NR_037807,NM_001203264,NM_001203265,NM_153460,NM_153461 IL17RC,IL17RC,IL17RC,IL17RC,IL17RC,IL17RC,IL17RC EXON Missense_L197F,Missense_L212F,Silent,Missense_L212F,Missense_L197F,Missense_L212F,Missense_L283F exm288950 3 9965582 [A/G] NM_032732,NM_001203263,NR_037807,NM_001203264,NM_001203265,NM_153460,NM_153461 IL17RC,IL17RC,IL17RC,IL17RC,IL17RC,IL17RC,IL17RC EXON Missense_V199M,Missense_V214M,Silent,Missense_V214M,Missense_V199M,Missense_V214M,Missense_V285M exm288952 3 9965636 [A/C] NM_032732,NM_001203263,NR_037807,NM_001203264,NM_001203265,NM_153460,NM_153461 IL17RC,IL17RC,IL17RC,IL17RC,IL17RC,IL17RC,IL17RC EXON Missense_H217N,Missense_H232N,Silent,Missense_H232N,Missense_H217N,Missense_H232N,Missense_H303N exm288953 3 9965642 [A/G] NM_032732,NM_001203263,NR_037807,NM_001203264,NM_001203265,NM_153460,NM_153461 IL17RC,IL17RC,IL17RC,IL17RC,IL17RC,IL17RC,IL17RC EXON Missense_G219S,Missense_G234S,Silent,Missense_G234S,Missense_G219S,Missense_G234S,Missense_G305S exm288958 3 9965927 [G/C] NM_032732,NM_001203263,NR_037807,NM_001203264,NM_001203265,NM_153460,NM_153461 IL17RC,IL17RC,IL17RC,IL17RC,IL17RC,IL17RC,IL17RC EXON Missense_Q243H,Missense_Q258H,Silent,Missense_Q258H,Missense_Q243H,Missense_Q258H,Missense_Q329H exm288962 3 9969850 [A/G] NM_032732,NM_001203263,NR_037807,NM_001203264,NM_001203265,NM_153460,NM_153461 IL17RC,IL17RC,IL17RC,IL17RC,IL17RC,IL17RC,IL17RC EXON Missense_V260M,Missense_V275M,Silent,Missense_V275M,Missense_V260M,Missense_V275M,Missense_V346M exm288965 3 9969874 [A/G] NM_032732,NM_001203263,NR_037807,NM_001203264,NM_001203265,NM_153460,NM_153461 IL17RC,IL17RC,IL17RC,IL17RC,IL17RC,IL17RC,IL17RC EXON Missense_V268I,Missense_V283I,Silent,Missense_V283I,Missense_V268I,Missense_V283I,Missense_V354I exm288966 3 9969881 [T/C] NM_032732,NM_001203263,NR_037807,NM_001203264,NM_001203265,NM_153460,NM_153461 IL17RC,IL17RC,IL17RC,IL17RC,IL17RC,IL17RC,IL17RC EXON Missense_T270M,Missense_T285M,Silent,Missense_T285M,Missense_T270M,Missense_T285M,Missense_T356M exm288971 3 9969994 [T/C] NM_032732,NM_001203263,NR_037807,NM_001203264,NM_001203265,NM_153460,NM_153461 IL17RC,IL17RC,IL17RC,IL17RC,IL17RC,IL17RC,IL17RC EXON Missense_R280C,Missense_R295C,Silent,Missense_R295C,Missense_R280C,Missense_R295C,Missense_R366C exm288975 3 9970030 [T/C] NM_032732,NM_001203263,NR_037807,NM_001203264,NM_001203265,NM_153460,NM_153461 IL17RC,IL17RC,IL17RC,IL17RC,IL17RC,IL17RC,IL17RC EXON Nonsense_Q292X,Nonsense_Q307X,Silent,Nonsense_Q307X,Nonsense_Q292X,Nonsense_Q307X,Nonsense_Q378X exm288976 3 9970031 [A/G] NM_032732,NM_001203263,NR_037807,NM_001203264,NM_001203265,NM_153460,NM_153461 IL17RC,IL17RC,IL17RC,IL17RC,IL17RC,IL17RC,IL17RC EXON Missense_Q292R,Missense_Q307R,Silent,Missense_Q307R,Missense_Q292R,Missense_Q307R,Missense_Q378R exm288978 3 9970063 [A/G] NM_032732,NM_001203263,NR_037807,NM_001203264,NM_001203265,NM_153460,NM_153461 IL17RC,IL17RC,IL17RC,IL17RC,IL17RC,IL17RC,IL17RC EXON Missense_A303T,Missense_A318T,Silent,Missense_A318T,Missense_A303T,Missense_A318T,Missense_A389T exm2062245 3 9970073 [C/G] NM_032732,NM_001203263,NR_037807,NM_001203264,NM_001203265,NM_153460,NM_153461 IL17RC,IL17RC,IL17RC,IL17RC,IL17RC,IL17RC,IL17RC EXON Missense_S306W,Missense_S321W,Silent,Missense_S321W,Missense_S306W,Missense_S321W,Missense_S392W exm288982 3 9970081 [A/G] NM_032732,NM_001203263,NR_037807,NM_001203264,NM_001203265,NM_153460,NM_153461 IL17RC,IL17RC,IL17RC,IL17RC,IL17RC,IL17RC,IL17RC EXON Missense_A309T,Missense_A324T,Silent,Missense_A324T,Missense_A309T,Missense_A324T,Missense_A395T exm288983 3 9970088 [T/C] NM_032732,NM_001203263,NR_037807,NM_001203264,NM_001203265,NM_153460,NM_153461 IL17RC,IL17RC,IL17RC,IL17RC,IL17RC,IL17RC,IL17RC EXON Missense_A311V,Missense_A326V,Silent,Missense_A326V,Missense_A311V,Missense_A326V,Missense_A397V exm288986 3 9970109 [T/C] NM_032732,NM_001203263,NR_037807,NM_001203264,NM_001203265,NM_153460,NM_153461 IL17RC,IL17RC,IL17RC,IL17RC,IL17RC,IL17RC,IL17RC EXON Missense_P318L,Missense_P333L,Silent,Missense_P333L,Missense_P318L,Missense_P333L,Missense_P404L exm288987 3 9970121 [T/C] NM_032732,NM_001203263,NR_037807,NM_001203264,NM_001203265,NM_153460,NM_153461 IL17RC,IL17RC,IL17RC,IL17RC,IL17RC,IL17RC,IL17RC EXON Missense_P322L,Missense_P337L,Silent,Missense_P337L,Missense_P322L,Missense_P337L,Missense_P408L exm288994 3 9970170 [T/C] NM_032732,NM_001203263,NR_037807,NM_001203264,NM_001203265,NM_153460,NM_153461 IL17RC,IL17RC,IL17RC,IL17RC,IL17RC,IL17RC,IL17RC EXON Synonymous_D338D,Synonymous_D353D,Silent,Synonymous_D353D,Synonymous_D338D,Synonymous_D353D,Synonymous_D424D exm289025 3 9974348 [T/C] NM_032732,NM_001203263,NR_037807,NM_001203264,NM_001203265,NM_153460,NM_153461 IL17RC,IL17RC,IL17RC,IL17RC,IL17RC,IL17RC,IL17RC EXON Missense_L467F,Missense_L482F,Silent,Missense_L465F,Missense_L450F,Missense_L482F,Missense_L553F exm2062254 3 9974774 [C/G] NM_032732,NM_001203263,NR_037807,NM_001203264,NM_001203265,NM_153460,NM_153461 IL17RC,IL17RC,IL17RC,IL17RC,IL17RC,IL17RC,IL17RC EXON Missense_L539V,Missense_L541V,Silent,Missense_L524V,Missense_L522V,Missense_L554V,Missense_L625V exm289042 3 9974882 [A/G] NM_032732,NM_001203263,NR_037807,NM_001203264,NM_001203265,NM_153460,NM_153461 IL17RC,IL17RC,IL17RC,IL17RC,IL17RC,IL17RC,IL17RC EXON Missense_S575G,Missense_S577G,Silent,Missense_S560G,Missense_S558G,Missense_S590G,Missense_S661G exm289064 3 9976159 [A/G] NM_015513,NM_001077415,NM_001031717 CRELD1,CRELD1,CRELD1 EXON Missense_M13V,Missense_M13V,Missense_M13V exm289074 3 9979275 [A/G] NM_015513,NM_001077415,NM_001031717 CRELD1,CRELD1,CRELD1 EXON Missense_G96D,Missense_G96D,Missense_G96D exm289077 3 9979308 [A/G] NM_015513,NM_001077415,NM_001031717 CRELD1,CRELD1,CRELD1 EXON Missense_R107H,Missense_R107H,Missense_R107H exm2265560 3 9979660 [A/G] NM_015513,NM_001077415,NM_001031717 CRELD1,CRELD1,CRELD1 Silent,Silent,Silent exm289083 3 9979713 [G/C] NM_015513,NM_001077415,NM_001031717 CRELD1,CRELD1,CRELD1 EXON Missense_P128R,Missense_P128R,Missense_P128R exm289084 3 9979763 [A/G] NM_015513,NM_001077415,NM_001031717 CRELD1,CRELD1,CRELD1 EXON Missense_A145T,Missense_A145T,Missense_A145T exm2062283 3 9982689 [A/G] NM_015513,NM_001077415,NM_001031717 CRELD1,CRELD1,CRELD1 EXON Missense_A206T,Missense_A206T,Missense_A206T exm289095 3 9982708 [T/C] NM_015513,NM_001077415,NM_001031717 CRELD1,CRELD1,CRELD1 EXON Missense_S212L,Missense_S212L,Missense_S212L exm289098 3 9982816 [A/G] NM_015513,NM_001077415,NM_001031717 CRELD1,CRELD1,CRELD1 EXON Missense_R220Q,Missense_R220Q,Missense_R220Q exm289109 3 9984855 [T/C] NM_015513,NM_001077415,NM_001031717 CRELD1,CRELD1,CRELD1 EXON Synonymous_L304L,Synonymous_L304L,Synonymous_L304L exm289112 3 9985083 [T/C] NM_015513,NM_001077415,NM_001031717 CRELD1,CRELD1,CRELD1 EXON Missense_T311I,Missense_T311I,Missense_T311I exm289116 3 9985136 [T/C] NM_015513,NM_001077415,NM_001031717 CRELD1,CRELD1,CRELD1 EXON Missense_R329C,Missense_R329C,Missense_R329C exm289122 3 9985631 [A/G] NM_015513,NM_001077415,NM_001031717 CRELD1,CRELD1,CRELD1 EXON Silent,Silent,Missense_R365H exm289125 3 9985673 [T/C] NM_015513,NM_001077415,NM_001031717 CRELD1,CRELD1,CRELD1 EXON Silent,Silent,Missense_M379T exm289127 3 9985697 [T/C] NM_015513,NM_001077415,NM_001031717 CRELD1,CRELD1,CRELD1 EXON Silent,Silent,Missense_T387I exm289145 3 9986249 [A/G] NM_015513,NM_001077415,NM_001031717 CRELD1,CRELD1,CRELD1 EXON Missense_I417V,Missense_I417V,Silent exm289168 3 9988425 [T/C] NM_207351 PRRT3 EXON Missense_N811S exm289199 3 9989377 [A/C] NM_207351,NR_046734 PRRT3,PRRT3-AS1 EXON Missense_A494S,Silent exm289208 3 9989641 [A/C] NM_207351,NR_046734 PRRT3,PRRT3-AS1 EXON Missense_A406S,Silent exm289222 3 9990800 [G/C] NM_207351,NR_046734 PRRT3,PRRT3-AS1 EXON Missense_R334G,Silent exm289226 3 9990863 [T/G] NM_207351,NR_046734 PRRT3,PRRT3-AS1 EXON Missense_P313T,Silent exm289230 3 9990895 [A/G] NM_207351,NR_046734 PRRT3,PRRT3-AS1 EXON Missense_S302F,Silent exm289234 3 9990998 [T/C] NM_207351,NR_046734 PRRT3,PRRT3-AS1 EXON Missense_A268T,Silent exm2062330 3 9991040 [A/G] NM_207351,NR_046734 PRRT3,PRRT3-AS1 EXON Missense_S254P,Silent exm289238 3 9991101 [G/C] NM_207351,NR_046734 PRRT3,PRRT3-AS1 EXON Missense_L233F,Silent exm289240 3 9991163 [A/G] NM_207351,NR_046734 PRRT3,PRRT3-AS1 EXON Missense_S213P,Silent exm289243 3 9991352 [A/G] NM_207351,NR_046734 PRRT3,PRRT3-AS1 EXON Missense_P150S,Silent exm289244 3 9991369 [G/C] NM_207351,NR_046734 PRRT3,PRRT3-AS1 EXON Missense_P144R,Silent exm289245 3 9991388 [C/G] NM_207351,NR_046734 PRRT3,PRRT3-AS1 EXON Missense_Q138E,Silent exm289250 3 9991429 [A/G] NM_207351,NR_046734 PRRT3,PRRT3-AS1 EXON Missense_S124F,Silent exm289269 3 10005790 [C/G] NM_018447 EMC3 EXON Missense_G250A exm289310 3 10049228 [T/G] NM_001008737 LOC401052 EXON Missense_P53T exm289314 3 10049258 [A/C] NM_001008737 LOC401052 EXON Missense_C43G exm289316 3 10049287 [T/C] NM_001008737 LOC401052 EXON Missense_H33R exm289320 3 10050086 [A/G] NM_001008737 LOC401052 Silent exm289321 3 10050088 [T/C] NM_001008737 LOC401052 EXON Missense_R26K exm289322 3 10050094 [T/C] NM_001008737 LOC401052 EXON Missense_R24Q exm289324 3 10050103 [A/G] NM_001008737 LOC401052 EXON Missense_P21L exm289325 3 10050110 [T/C] NM_001008737 LOC401052 EXON Missense_A19T exm289330 3 10070369 [T/C] NM_001018115,NM_033084 FANCD2,FANCD2 EXON Missense_S10P,Missense_S10P exm289335 3 10074529 [A/C] NM_001018115,NM_033084 FANCD2,FANCD2 EXON Missense_Q26H,Missense_Q26H exm289338 3 10074633 [T/C] NM_001018115,NM_033084 FANCD2,FANCD2 EXON Missense_T61M,Missense_T61M exm289340 3 10074646 [G/C] NM_001018115,NM_033084 FANCD2,FANCD2 EXON Missense_Q65H,Missense_Q65H exm289343 3 10076416 [T/C] NM_001018115,NM_033084 FANCD2,FANCD2 EXON Missense_I104T,Missense_I104T exm289354 3 10080987 [A/G] NM_001018115,NM_033084 FANCD2,FANCD2 EXON Missense_I172M,Missense_I172M exm289357 3 10081411 [A/G] NM_001018115,NM_033084 FANCD2,FANCD2 EXON Missense_T193A,Missense_T193A exm289365 3 10083307 [T/C] NM_001018115,NM_033084 FANCD2,FANCD2 EXON Synonymous_S232S,Synonymous_S232S exm289368 3 10084267 [T/G] NM_001018115,NM_033084 FANCD2,FANCD2 EXON Missense_L270V,Missense_L270V exm289371 3 10084828 [A/G] NM_001018115,NM_033084 FANCD2,FANCD2 EXON Missense_R328Q,Missense_R328Q exm289372 3 10084831 [G/C] NM_001018115,NM_033084 FANCD2,FANCD2 EXON Missense_A329G,Missense_A329G exm289375 3 10085193 [A/G] NM_001018115,NM_033084 FANCD2,FANCD2 EXON Missense_G339S,Missense_G339S exm289381 3 10085544 [A/G] NM_001018115,NM_033084 FANCD2,FANCD2 EXON Missense_H377R,Missense_H377R exm289390 3 10088285 [T/G] NM_001018115,NM_033084 FANCD2,FANCD2 EXON Missense_F386V,Missense_F386V exm289415 3 10089689 [T/G] NM_001018115,NM_033084 FANCD2,FANCD2 EXON Missense_L456R,Missense_L456R exm289430 3 10094126 [A/G] NM_001018115,NM_033084 FANCD2,FANCD2 EXON Missense_Y534C,Missense_Y534C exm289441 3 10103845 [T/C] NM_001018115,NM_033084 FANCD2,FANCD2 EXON Missense_P593S,Missense_P593S exm289444 3 10103878 [A/G] NM_001018115,NM_033084 FANCD2,FANCD2 EXON Missense_D604N,Missense_D604N exm289450 3 10105568 [A/C] NM_001018115,NM_033084 FANCD2,FANCD2 EXON Missense_Q640H,Missense_Q640H exm289471 3 10107089 [T/C] NM_001018115,NM_033084 FANCD2,FANCD2 EXON Missense_P727L,Missense_P727L exm2031947 3 10108991 [A/G] NM_001018115,NM_033084 FANCD2,FANCD2 EXON Synonymous_K828K,Synonymous_K828K exm289504 3 10115018 [T/C] NM_001018115,NM_033084 FANCD2,FANCD2 EXON Missense_T896M,Missense_T896M exm289505 3 10115033 [T/G] NM_001018115,NM_033084 FANCD2,FANCD2 EXON Missense_G901V,Missense_G901V exm289507 3 10115047 [A/G] NM_001018115,NM_033084 FANCD2,FANCD2 Silent,Silent exm2031957 3 10116221 [T/C] NM_001018115,NM_033084 FANCD2,FANCD2 EXON Missense_T908I,Missense_T908I exm289545 3 10128825 [A/G] NM_001018115,NM_033084,NM_173472 FANCD2,FANCD2,FANCD2OS EXON Missense_V1115I,Missense_V1115I,Silent exm289546 3 10128928 [T/C] NM_001018115,NM_033084,NM_173472 FANCD2,FANCD2,FANCD2OS EXON Missense_A1149V,Missense_A1149V,Silent exm289568 3 10134996 [A/G] NM_001018115,NM_033084,NM_173472 FANCD2,FANCD2,FANCD2OS EXON Missense_V1293I,Missense_V1293I,Silent exm289580 3 10140451 [C/G] NM_001018115,NM_033084,NM_173472 FANCD2,FANCD2,FANCD2OS EXON Missense_E1411D,Missense_E1411D,Silent exm289587 3 10140614 [A/C] NM_001018115,NM_033084,NM_173472 FANCD2,FANCD2,FANCD2OS EXON Silent,Missense_P1466T,Silent exm289607 3 10146173 [A/G] NM_173472,NM_001164839 FANCD2OS,FANCD2OS EXON Missense_L96F,Missense_L96F exm289609 3 10146181 [C/G] NM_173472,NM_001164839 FANCD2OS,FANCD2OS EXON Missense_P93R,Missense_P93R exm289610 3 10146208 [T/A] NM_173472,NM_001164839 FANCD2OS,FANCD2OS EXON Missense_N84I,Missense_N84I exm289614 3 10146223 [A/C] NM_173472,NM_001164839 FANCD2OS,FANCD2OS EXON Missense_L79W,Missense_L79W exm289616 3 10146253 [G/C] NM_173472,NM_001164839 FANCD2OS,FANCD2OS EXON Missense_S69T,Missense_S69T exm289619 3 10146268 [A/G] NM_173472,NM_001164839 FANCD2OS,FANCD2OS EXON Missense_L64P,Missense_L64P exm289628 3 10146448 [T/C] NM_173472,NM_001164839 FANCD2OS,FANCD2OS EXON Missense_Y4C,Missense_Y4C exm289656 3 10183766 [T/C] NM_000551,NM_198156 VHL,VHL EXON Missense_R79C,Missense_R79C exm289671 3 10191605 [T/C] NM_000551,NM_198156 VHL,VHL EXON Missense_R200W,Missense_R159W exm289673 3 10191636 [A/G] NM_000551,NM_198156 VHL,VHL EXON Missense_R210Q,Missense_R169Q exm289680 3 10219555 [A/G] NM_001570 IRAK2 EXON Missense_R43Q exm289683 3 10219567 [A/C] NM_001570 IRAK2 EXON Missense_S47Y exm289687 3 10219638 [A/G] NM_001570 IRAK2 EXON Missense_V71I exm289688 3 10219647 [T/C] NM_001570 IRAK2 EXON Missense_L74F exm289692 3 10219689 [T/C] NM_001570 IRAK2 EXON Nonsense_Q88X exm289694 3 10242051 [A/G] NM_001570 IRAK2 Silent exm289698 3 10242070 [A/G] NM_001570 IRAK2 EXON Missense_I99V exm289700 3 10242097 [A/G] NM_001570 IRAK2 EXON Missense_D108N exm289706 3 10242198 [A/G] NM_001570 IRAK2 EXON Synonymous_P141P exm2265418 3 10242243 [A/G] NM_001570 IRAK2 Silent exm289709 3 10251288 [C/G] NM_001570 IRAK2 EXON Missense_R147T exm289715 3 10254969 [A/G] NM_001570 IRAK2 EXON Missense_V203M exm289716 3 10255002 [C/G] NM_001570 IRAK2 EXON Missense_R214G exm289718 3 10255013 [A/C] NM_001570 IRAK2 EXON Missense_S217R exm2032255 3 10255225 [T/C] NM_001570 IRAK2 EXON Missense_C261R exm289736 3 10261394 [G/C] NM_001570 IRAK2 EXON Missense_R312G exm289737 3 10261445 [C/G] NM_001570 IRAK2 EXON Missense_L329V exm289741 3 10264378 [A/C] NM_001570 IRAK2 EXON Missense_L358M exm289744 3 10264432 [T/C] NM_001570 IRAK2 EXON Missense_R376W exm289747 3 10264477 [A/C] NM_001570 IRAK2 EXON Missense_Q391K exm289748 3 10264480 [G/C] NM_001570 IRAK2 EXON Missense_L392V exm289751 3 10268064 [A/G] NM_001570 IRAK2 EXON Missense_E407K exm289754 3 10276163 [T/A] NM_001570 IRAK2 EXON Missense_D431E exm289759 3 10276185 [G/C] NM_001570 IRAK2 EXON Missense_L439V exm289769 3 10280460 [A/G] NM_001570 IRAK2 EXON Missense_E501G exm289770 3 10280465 [A/C] NM_001570 IRAK2 EXON Missense_L503I exm2032281 3 10280469 [A/G] NM_001570 IRAK2 EXON Missense_R504Q exm289774 3 10280481 [T/C] NM_001570 IRAK2 EXON Missense_T508M exm289785 3 10280654 [T/C] NM_001570 IRAK2 EXON Missense_R566W exm289803 3 10290952 [A/G] NM_014760 TATDN2 EXON Missense_R23H exm289810 3 10291083 [T/C] NM_014760 TATDN2 EXON Missense_R67W exm289812 3 10291135 [T/C] NM_014760 TATDN2 EXON Missense_F84S exm289813 3 10291140 [T/C] NM_014760 TATDN2 EXON Missense_P86S exm289814 3 10291153 [A/G] NM_014760 TATDN2 EXON Missense_G90D exm289819 3 10291231 [T/C] NM_014760 TATDN2 EXON Missense_P116L exm289837 3 10302056 [A/G] NM_014760 TATDN2 EXON Missense_H217R exm289838 3 10302076 [C/G] NM_014760 TATDN2 EXON Missense_P224A exm289844 3 10302172 [A/G] NM_014760 TATDN2 EXON Missense_V256I exm289848 3 10302329 [C/G] NM_014760 TATDN2 EXON Missense_S308C exm2032306 3 10311918 [T/C] NM_014760 TATDN2 EXON Missense_S351F exm289856 3 10311939 [T/C] NM_014760 TATDN2 EXON Missense_P358L exm289862 3 10312076 [A/G] NM_014760 TATDN2 EXON Missense_D404N exm289864 3 10312113 [T/C] NM_014760 TATDN2 EXON Missense_M416T exm289865 3 10312121 [T/C] NM_014760 TATDN2 EXON Missense_Y419H exm289874 3 10312346 [T/G] NM_014760 TATDN2 EXON Missense_G494C exm289883 3 10312599 [A/G] NM_014760 TATDN2 EXON Missense_N578S exm289891 3 10318082 [A/G] NM_014760 TATDN2 EXON Missense_K624R exm289895 3 10320058 [T/C] NM_014760 TATDN2 EXON Missense_S686F exm289930 3 10328453 [A/T] NR_073566,NR_004431,NR_024145,NR_073567,NR_073568,NR_024144,NR_024132,NM_001134944,NM_016362,NR_024133,NR_024134,NR_024135,NR_024137,NM_001134941,NM_001134945,NR_024138,NR_024136,NM_001134946 GHRLOS,GHRLOS,GHRLOS,GHRLOS,GHRLOS,GHRLOS,GHRL,GHRL,GHRL,GHRL,GHRL,GHRL,GHRL,GHRL,GHRL,GHRL,GHRL,GHRL EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_Q78L,Missense_Q90L,Silent,Silent,Silent,Silent,Missense_Q89L,Missense_Q77L,Silent,Silent,Missense_Q39L exm289939 3 10331447 [T/C] NR_073566,NR_004431,NR_024145,NR_073567,NR_073568,NR_024144,NR_024132,NM_001134944,NM_016362,NR_024133,NR_024134,NR_024135,NR_024137,NM_001134941,NM_001134945,NR_024138,NR_024136,NM_001134946 GHRLOS,GHRLOS,GHRLOS,GHRLOS,GHRLOS,GHRLOS,GHRL,GHRL,GHRL,GHRL,GHRL,GHRL,GHRL,GHRL,GHRL,GHRL,GHRL,GHRL EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_R63Q,Missense_R75Q,Silent,Silent,Silent,Silent,Missense_R74Q,Missense_R62Q,Silent,Silent,Silent exm289947 3 10331519 [T/C] NR_073566,NR_004431,NR_024145,NR_073567,NR_073568,NR_024144,NR_024132,NM_001134944,NM_016362,NR_024133,NR_024134,NR_024135,NR_024137,NM_001134941,NM_001134945,NR_024138,NR_024136,NM_001134946 GHRLOS,GHRLOS,GHRLOS,GHRLOS,GHRLOS,GHRLOS,GHRL,GHRL,GHRL,GHRL,GHRL,GHRL,GHRL,GHRL,GHRL,GHRL,GHRL,GHRL EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_R39Q,Missense_R51Q,Silent,Silent,Silent,Silent,Missense_R50Q,Missense_R38Q,Silent,Silent,Silent exm2238271 3 10334532 [A/C] NR_073566,NR_004431,NR_024145,NR_073567,NR_073568,NR_024144,NR_024132,NM_001134944,NR_024133,NR_024134,NR_024135,NR_024137,NM_001134945,NR_024138,NR_024136,NM_001134946 GHRLOS,GHRLOS,GHRLOS,GHRLOS,GHRLOS,GHRLOS,GHRL,GHRL,GHRL,GHRL,GHRL,GHRL,GHRL,GHRL,GHRL,GHRL EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_R22S,Silent,Silent,Silent,Silent,Missense_R22S,Silent,Silent,Missense_R22S exm289960 3 10334546 [T/C] NR_073566,NR_004431,NR_024145,NR_073567,NR_073568,NR_024144,NR_024132,NM_001134944,NR_024133,NR_024134,NR_024135,NR_024137,NM_001134945,NR_024138,NR_024136,NM_001134946 GHRLOS,GHRLOS,GHRLOS,GHRLOS,GHRLOS,GHRLOS,GHRL,GHRL,GHRL,GHRL,GHRL,GHRL,GHRL,GHRL,GHRL,GHRL EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_G18R,Silent,Silent,Silent,Silent,Missense_G18R,Silent,Silent,Missense_G18R exm289971 3 10342986 [T/C] NM_001136232,NR_024272,NR_024273,NM_183352 SEC13,SEC13,SEC13,SEC13 EXON Missense_V296I,Silent,Silent,Missense_V310I exm289979 3 10345849 [C/G] NM_001136232,NR_024272,NR_024273,NM_183352 SEC13,SEC13,SEC13,SEC13 EXON Missense_R225P,Silent,Silent,Missense_R239P exm289991 3 10347312 [A/G] NM_001136232,NR_024272,NR_024273,NM_183352 SEC13,SEC13,SEC13,SEC13 EXON Missense_S158L,Silent,Silent,Missense_S172L exm290018 3 10357018 [T/C] NM_001136232,NR_024272,NR_024273,NM_183352 SEC13,SEC13,SEC13,SEC13 EXON Missense_A37T,Silent,Silent,Missense_A51T exm290022 3 10357089 [T/C] NM_001136232,NR_024272,NR_024273,NM_183352 SEC13,SEC13,SEC13,SEC13 EXON Missense_R13H,Silent,Silent,Missense_R27H exm2255578 3 10387206 [A/G] NM_001683,NM_001001331 ATP2B2,ATP2B2 EXON Synonymous_D810D,Synonymous_D855D exm290109 3 10392233 [T/C] NM_001683,NM_001001331 ATP2B2,ATP2B2 EXON Missense_R677Q,Missense_R722Q exm290117 3 10400574 [T/C] NM_001683,NM_001001331 ATP2B2,ATP2B2 EXON Missense_R601H,Missense_R646H exm290118 3 10400592 [T/C] NM_001683,NM_001001331 ATP2B2,ATP2B2 EXON Missense_N595S,Missense_N640S exm290121 3 10401576 [T/C] NM_001683,NM_001001331 ATP2B2,ATP2B2 EXON Missense_V586M,Missense_V631M exm290123 3 10401618 [T/C] NM_001683,NM_001001331 ATP2B2,ATP2B2 EXON Missense_D572N,Missense_D617N exm2255579 3 10413526 [A/G] NM_001683,NM_001001331 ATP2B2,ATP2B2 EXON Synonymous_I497I,Synonymous_I542I exm290153 3 10419937 [T/C] NM_001683,NM_001001331 ATP2B2,ATP2B2 EXON Synonymous_A355A,Synonymous_A400A exm290169 3 10426972 [A/G] NM_001683,NM_001001331 ATP2B2,ATP2B2 EXON Silent,Missense_A327V exm290183 3 10442672 [T/C] NM_001683,NM_001001331 ATP2B2,ATP2B2 EXON Missense_R249H,Missense_R249H exm2255583 3 10491075 [T/C] NM_001683,NM_001001331 ATP2B2,ATP2B2 EXON Synonymous_G51G,Synonymous_G51G exm-rs6807064 3 10535771 [T/C] NM_001683,NM_001001331 ATP2B2,ATP2B2 Silent,Silent exm2265419 3 10595564 [A/G] exm2261348 3 10706597 [T/C] exm290219 3 10858071 [A/G] NM_014229 SLC6A11 EXON Missense_V41I exm290233 3 10861429 [T/C] NM_014229 SLC6A11 EXON Missense_H142Y exm2032933 3 10865032 [A/G] NM_014229 SLC6A11 EXON Missense_H193R exm-rs2304725 3 10885920 [T/C] NM_014229 SLC6A11 EXON Synonymous_S215S exm290245 3 10916655 [T/G] NM_014229 SLC6A11 EXON Missense_V256L exm290249 3 10916706 [A/G] NM_014229 SLC6A11 EXON Missense_V273I exm290254 3 10953786 [A/T] NM_014229 SLC6A11 EXON Missense_D301E exm-rs4684746 3 10966588 [A/G] NM_014229 SLC6A11 Silent exm2033057 3 10970982 [T/C] NM_014229 SLC6A11 EXON Missense_L443S exm290293 3 10975803 [G/C] NM_014229 SLC6A11 EXON Missense_P509R exm290294 3 10975833 [T/C] NM_014229 SLC6A11 EXON Missense_M519T exm290296 3 10975851 [T/C] NM_014229 SLC6A11 EXON Missense_A525V exm290299 3 10976751 [G/C] NM_014229 SLC6A11 EXON Missense_L538V exm290303 3 10976854 [T/C] NM_014229 SLC6A11 EXON Missense_T572I exm290313 3 10979978 [T/C] NM_014229 SLC6A11 EXON Missense_R597W exm290314 3 10979979 [A/G] NM_014229 SLC6A11 EXON Missense_R597Q exm2033074 3 10979998 [A/C] NM_014229 SLC6A11 EXON Missense_S603R exm-rs9990174 3 11040439 [T/G] NM_003042 SLC6A1 Silent exm290342 3 11060302 [G/C] NM_003042,NR_046647 SLC6A1,SLC6A1-AS1 EXON Missense_A130G,Silent exm290348 3 11061962 [A/G] NM_003042 SLC6A1 EXON Missense_M179V exm290384 3 11070958 [A/C] NM_003042 SLC6A1 EXON Missense_L415I exm290393 3 11072964 [T/C] NM_003042 SLC6A1 EXON Synonymous_Y475Y exm290397 3 11075425 [A/G] NM_003042 SLC6A1 EXON Synonymous_A509A exm290399 3 11076352 [A/G] NM_003042 SLC6A1 EXON Missense_M555V exm2269401 3 11092828 [T/C] exm290409 3 11300765 [A/G] NM_001098213,NM_001098212,NM_001098211,NM_000861 HRH1,HRH1,HRH1,HRH1 EXON Missense_M14I,Missense_M14I,Missense_M14I,Missense_M14I exm290410 3 11300780 [C/G] NM_001098213,NM_001098212,NM_001098211,NM_000861 HRH1,HRH1,HRH1,HRH1 EXON Missense_K19N,Missense_K19N,Missense_K19N,Missense_K19N exm290413 3 11300881 [A/G] NM_001098213,NM_001098212,NM_001098211,NM_000861 HRH1,HRH1,HRH1,HRH1 EXON Missense_R53Q,Missense_R53Q,Missense_R53Q,Missense_R53Q exm290426 3 11301013 [A/G] NM_001098213,NM_001098212,NM_001098211,NM_000861 HRH1,HRH1,HRH1,HRH1 EXON Missense_R97H,Missense_R97H,Missense_R97H,Missense_R97H exm290427 3 11301075 [A/G] NM_001098213,NM_001098212,NM_001098211,NM_000861 HRH1,HRH1,HRH1,HRH1 EXON Missense_V118I,Missense_V118I,Missense_V118I,Missense_V118I exm290437 3 11301309 [A/G] NM_001098213,NM_001098212,NM_001098211,NM_000861 HRH1,HRH1,HRH1,HRH1 EXON Missense_I196V,Missense_I196V,Missense_I196V,Missense_I196V exm290440 3 11301394 [A/G] NM_001098213,NM_001098212,NM_001098211,NM_000861 HRH1,HRH1,HRH1,HRH1 EXON Missense_R224Q,Missense_R224Q,Missense_R224Q,Missense_R224Q exm290446 3 11301532 [A/G] NM_001098213,NM_001098212,NM_001098211,NM_000861 HRH1,HRH1,HRH1,HRH1 EXON Missense_G270E,Missense_G270E,Missense_G270E,Missense_G270E exm2033633 3 11301661 [T/C] NM_001098213,NM_001098212,NM_001098211,NM_000861 HRH1,HRH1,HRH1,HRH1 EXON Missense_A313V,Missense_A313V,Missense_A313V,Missense_A313V exm290449 3 11301672 [T/A] NM_001098213,NM_001098212,NM_001098211,NM_000861 HRH1,HRH1,HRH1,HRH1 EXON Missense_S317C,Missense_S317C,Missense_S317C,Missense_S317C exm290452 3 11301693 [A/G] NM_001098213,NM_001098212,NM_001098211,NM_000861 HRH1,HRH1,HRH1,HRH1 EXON Missense_V324I,Missense_V324I,Missense_V324I,Missense_V324I exm290453 3 11301700 [A/G] NM_001098213,NM_001098212,NM_001098211,NM_000861 HRH1,HRH1,HRH1,HRH1 EXON Missense_R326Q,Missense_R326Q,Missense_R326Q,Missense_R326Q exm290457 3 11301768 [G/C] NM_001098213,NM_001098212,NM_001098211,NM_000861 HRH1,HRH1,HRH1,HRH1 EXON Missense_D349H,Missense_D349H,Missense_D349H,Missense_D349H exm290461 3 11301810 [T/C] NM_001098213,NM_001098212,NM_001098211,NM_000861 HRH1,HRH1,HRH1,HRH1 EXON Missense_S363P,Missense_S363P,Missense_S363P,Missense_S363P exm290463 3 11301858 [A/G] NM_001098213,NM_001098212,NM_001098211,NM_000861 HRH1,HRH1,HRH1,HRH1 EXON Missense_G379R,Missense_G379R,Missense_G379R,Missense_G379R exm290472 3 11301988 [T/C] NM_001098213,NM_001098212,NM_001098211,NM_000861 HRH1,HRH1,HRH1,HRH1 EXON Missense_A422V,Missense_A422V,Missense_A422V,Missense_A422V exm-rs1809049 3 11302884 [A/G] NM_001098213,NM_001098212,NM_001098211,NM_000861 HRH1,HRH1,HRH1,HRH1 EXON Silent,Silent,Silent,Silent exm290484 3 11348425 [A/C] NM_001136031,NM_006395,NM_001144912 ATG7,ATG7,ATG7 EXON Missense_P75H,Missense_P75H,Missense_P75H exm290485 3 11348437 [A/G] NM_001136031,NM_006395,NM_001144912 ATG7,ATG7,ATG7 EXON Missense_R79H,Missense_R79H,Missense_R79H exm290492 3 11354815 [A/G] NM_001136031,NM_006395,NM_001144912 ATG7,ATG7,ATG7 EXON Missense_Y150C,Missense_Y150C,Silent exm290501 3 11374505 [T/C] NM_001136031,NM_006395,NM_001144912 ATG7,ATG7,ATG7 EXON Missense_A276V,Missense_A276V,Missense_A237V exm290506 3 11382205 [A/C] NM_001136031,NM_006395,NM_001144912 ATG7,ATG7,ATG7 EXON Missense_K326Q,Missense_K326Q,Missense_K287Q exm290514 3 11389387 [A/G] NM_001136031,NM_006395,NM_001144912 ATG7,ATG7,ATG7 EXON Missense_A388T,Missense_A388T,Missense_A349T exm2034026 3 11389426 [T/C] NM_001136031,NM_006395,NM_001144912 ATG7,ATG7,ATG7 EXON Missense_Y401H,Missense_Y401H,Missense_Y362H exm290517 3 11389484 [A/G] NM_001136031,NM_006395,NM_001144912 ATG7,ATG7,ATG7 EXON Missense_R420Q,Missense_R420Q,Missense_R381Q exm290518 3 11389502 [T/C] NM_001136031,NM_006395,NM_001144912 ATG7,ATG7,ATG7 EXON Missense_P426L,Missense_P426L,Missense_P387L exm290525 3 11400019 [T/C] NM_001136031,NM_006395,NM_001144912 ATG7,ATG7,ATG7 EXON Missense_V471A,Missense_V471A,Missense_V432A exm290531 3 11400085 [A/G] NM_001136031,NM_006395,NM_001144912 ATG7,ATG7,ATG7 EXON Missense_K493R,Missense_K493R,Missense_K454R exm-rs2606736 3 11400249 [T/C] NM_001136031,NM_006395,NM_001144912 ATG7,ATG7,ATG7 Silent,Silent,Silent exm290533 3 11402163 [A/G] NM_001136031,NM_006395,NM_001144912 ATG7,ATG7,ATG7 EXON Missense_A530T,Missense_A530T,Missense_A491T exm290557 3 11596283 [A/G] NM_001136031,NM_006395,NM_001144912 ATG7,ATG7,ATG7 Silent,Silent,Silent exm290577 3 11600231 [A/G] NM_014667,NM_001128219,NM_001128220,NM_001128221 VGLL4,VGLL4,VGLL4,VGLL4 EXON Synonymous_P224P,Synonymous_P230P,Synonymous_P144P,Synonymous_P140P exm290583 3 11600860 [T/C] NM_014667,NM_001128219,NM_001128220,NM_001128221 VGLL4,VGLL4,VGLL4,VGLL4 EXON Missense_A183T,Missense_A189T,Missense_A103T,Missense_A99T exm2255621 3 11600873 [T/C] NM_014667,NM_001128219,NM_001128220,NM_001128221 VGLL4,VGLL4,VGLL4,VGLL4 EXON Synonymous_S178S,Synonymous_S184S,Synonymous_S98S,Synonymous_S94S exm-rs6772112 3 11641535 [T/C] NM_014667,NM_001128219 VGLL4,VGLL4 Silent,Silent exm290618 3 11643410 [T/C] NM_014667,NM_001128219 VGLL4,VGLL4 EXON Missense_I51V,Missense_I57V exm290619 3 11643416 [A/G] NM_014667,NM_001128219 VGLL4,VGLL4 EXON Missense_P49S,Missense_P55S exm290622 3 11643428 [A/G] NM_014667,NM_001128219 VGLL4,VGLL4 EXON Missense_R45C,Missense_R51C exm290624 3 11643465 [T/C] NM_014667,NM_001128219 VGLL4,VGLL4 EXON Missense_I32M,Missense_I38M exm2265561 3 11662320 [A/G] NM_014667,NM_001128219 VGLL4,VGLL4 Silent,Silent exm290633 3 11744520 [A/G] NM_014667 VGLL4 EXON Silent exm290642 3 11851051 [T/C] NM_138807 TAMM41 EXON Missense_V272M exm290654 3 11871215 [T/C] NM_138807 TAMM41 EXON Missense_I179V exm290659 3 11871299 [A/G] NM_138807 TAMM41 EXON Missense_S151P exm290671 3 11885549 [T/C] NM_138807 TAMM41 EXON Missense_Y91C exm290672 3 11885597 [A/G] NM_138807 TAMM41 EXON Missense_F75S exm290680 3 11887993 [A/G] NM_138807 TAMM41 EXON Missense_P40S exm2269402 3 11891529 [T/C] exm-rs6777876 3 11956598 [A/G] exm290733 3 12195065 [A/G] NM_133625,NM_003178,NM_003256 SYN2,SYN2,TIMP4 EXON Silent,Silent,Missense_R209W exm290742 3 12195848 [A/G] NM_133625,NM_003178,NM_003256 SYN2,SYN2,TIMP4 EXON Silent,Silent,Synonymous_Y152Y exm2255642 3 12195848 [A/G] NM_133625,NM_003178,NM_003256 SYN2,SYN2,TIMP4 EXON Silent,Silent,Synonymous_Y152Y exm290752 3 12198388 [A/G] NM_133625,NM_003178,NM_003256 SYN2,SYN2,TIMP4 EXON Silent,Silent,Missense_T95M exm290777 3 12203582 [T/C] NM_133625,NM_003178 SYN2,SYN2 EXON Missense_T302I,Missense_T302I exm2255645 3 12231996 [A/G] NM_133625 SYN2 EXON Synonymous_S539S exm290809 3 12232046 [G/C] NM_133625 SYN2 EXON Missense_S556C exm-rs17036101 3 12277845 [A/G] exm-rs13081389 3 12289800 [A/G] exm290816 3 12393125 [C/G] NM_005037,NM_138712,NM_138711,NM_015869 PPARG,PPARG,PPARG,PPARG EXON Silent,Silent,Silent,Missense_P12A exm2261372 3 12399270 [T/C] NM_005037,NM_138712,NM_138711,NM_015869 PPARG,PPARG,PPARG,PPARG Silent,Silent,Silent,Silent exm290822 3 12421253 [T/A] NM_005037,NM_138712,NM_138711,NM_015869 PPARG,PPARG,PPARG,PPARG EXON Missense_I17F,Missense_I17F,Missense_I17F,Missense_I45F exm290849 3 12458209 [A/G] NM_005037,NM_138712,NM_138711,NM_015869 PPARG,PPARG,PPARG,PPARG EXON Missense_V248I,Missense_V248I,Missense_V248I,Missense_V276I exm2255659 3 12458274 [T/C] NM_005037,NM_138712,NM_138711,NM_015869 PPARG,PPARG,PPARG,PPARG EXON Synonymous_P269P,Synonymous_P269P,Synonymous_P269P,Synonymous_P297P exm290853 3 12458386 [G/C] NM_005037,NM_138712,NM_138711,NM_015869 PPARG,PPARG,PPARG,PPARG EXON Missense_V307L,Missense_V307L,Missense_V307L,Missense_V335L exm2269403 3 12488027 [T/C] exm290884 3 12531421 [A/G] NM_001145393,NM_001145394,NM_001145395,NM_025265,NM_001145392 TSEN2,TSEN2,TSEN2,TSEN2,TSEN2 EXON Missense_R41H,Missense_R41H,Missense_R41H,Missense_R41H,Missense_R41H exm290897 3 12544761 [A/G] NM_001145393,NM_001145394,NM_001145395,NM_025265,NM_001145392 TSEN2,TSEN2,TSEN2,TSEN2,TSEN2 EXON Synonymous_R103R,Synonymous_R103R,Synonymous_R103R,Synonymous_R103R,Synonymous_R103R exm290899 3 12544774 [T/G] NM_001145393,NM_001145394,NM_001145395,NM_025265,NM_001145392 TSEN2,TSEN2,TSEN2,TSEN2,TSEN2 EXON Missense_V108F,Missense_V108F,Missense_V108F,Missense_V108F,Missense_V108F exm2255664 3 12544779 [A/G] NM_001145393,NM_001145394,NM_001145395,NM_025265,NM_001145392 TSEN2,TSEN2,TSEN2,TSEN2,TSEN2 EXON Synonymous_E109E,Synonymous_E109E,Synonymous_E109E,Synonymous_E109E,Synonymous_E109E exm290902 3 12544828 [T/C] NM_001145393,NM_001145394,NM_001145395,NM_025265,NM_001145392 TSEN2,TSEN2,TSEN2,TSEN2,TSEN2 EXON Missense_R126C,Missense_R126C,Missense_R126C,Missense_R126C,Missense_R126C exm290903 3 12544829 [A/G] NM_001145393,NM_001145394,NM_001145395,NM_025265,NM_001145392 TSEN2,TSEN2,TSEN2,TSEN2,TSEN2 EXON Missense_R126H,Missense_R126H,Missense_R126H,Missense_R126H,Missense_R126H exm290905 3 12544850 [T/C] NM_001145393,NM_001145394,NM_001145395,NM_025265,NM_001145392 TSEN2,TSEN2,TSEN2,TSEN2,TSEN2 EXON Missense_T133M,Missense_T133M,Missense_T133M,Missense_T133M,Missense_T133M exm290913 3 12545039 [T/G] NM_001145393,NM_001145394,NM_001145395,NM_025265,NM_001145392 TSEN2,TSEN2,TSEN2,TSEN2,TSEN2 EXON Missense_G196V,Silent,Missense_G196V,Missense_G196V,Missense_G196V exm2036159 3 12558126 [A/G] NM_001145393,NM_001145394,NM_001145395,NM_025265,NM_001145392 TSEN2,TSEN2,TSEN2,TSEN2,TSEN2 EXON Missense_Y283C,Missense_Y250C,Missense_Y283C,Missense_Y309C,Missense_Y309C exm290942 3 12560610 [C/G] NM_001145393,NM_001145394,NM_001145395,NM_025265,NM_001145392 TSEN2,TSEN2,TSEN2,TSEN2,TSEN2 EXON Missense_T312R,Missense_T279R,Missense_T312R,Missense_T338R,Missense_T338R exm290944 3 12560645 [T/C] NM_001145393,NM_001145394,NM_001145395,NM_025265,NM_001145392 TSEN2,TSEN2,TSEN2,TSEN2,TSEN2 EXON Nonsense_R324X,Nonsense_R291X,Nonsense_R324X,Nonsense_R350X,Nonsense_R350X exm290949 3 12570395 [T/C] NM_001145393,NM_001145394,NM_001145395,NM_025265,NM_001145392 TSEN2,TSEN2,TSEN2,TSEN2,TSEN2 EXON Missense_R344W,Missense_R311W,Missense_R344W,Missense_R370W,Missense_R370W exm290957 3 12571387 [C/G] NM_001145393,NM_001145394,NM_001145395,NM_025265,NM_001145392 TSEN2,TSEN2,TSEN2,TSEN2,TSEN2 EXON Silent,Silent,Missense_Q395H,Silent,Silent exm290975 3 12584699 [A/G] NM_001195279 LOC100129480 EXON Missense_V83A exm2238514 3 12610453 [A/G] NM_014160,NM_001271707 MKRN2,MKRN2 EXON Missense_I36V,Silent exm290995 3 12611570 [A/G] NM_014160,NM_001271707 MKRN2,MKRN2 EXON Synonymous_R52R,Synonymous_R9R exm2255666 3 12613842 [T/C] NM_014160,NM_001271707 MKRN2,MKRN2 EXON Synonymous_F204F,Synonymous_F161F exm291022 3 12616309 [A/G] NM_014160,NM_001271707 MKRN2,MKRN2 EXON Missense_E221K,Missense_E178K exm2036417 3 12616379 [T/G] NM_014160,NM_001271707 MKRN2,MKRN2 EXON Missense_V244G,Missense_V201G exm291031 3 12616498 [A/G] NM_014160,NM_001271707 MKRN2,MKRN2 EXON Missense_I284V,Missense_I241V exm291042 3 12623664 [A/G] NM_014160,NM_001271707 MKRN2,MKRN2 EXON Missense_R388Q,Missense_R345Q exm291045 3 12623701 [T/G] NM_014160,NM_001271707 MKRN2,MKRN2 EXON Missense_E400D,Missense_E357D exm-rs3729931 3 12626516 [A/G] NM_002880 RAF1 Silent exm-rs2290159 3 12628920 [C/G] NM_002880 RAF1 Silent exm291092 3 12641718 [A/G] NM_002880 RAF1 EXON Missense_P308L exm291107 3 12650834 [A/G] NM_002880 RAF1 EXON Synonymous_G107G exm2036594 3 12653557 [T/C] NM_002880 RAF1 EXON Missense_N71S exm291114 3 12660099 [T/C] NM_002880 RAF1 EXON Missense_R41Q exm2036598 3 12660102 [T/C] NM_002880 RAF1 EXON Missense_R40H exm291119 3 12776291 [A/C] NM_018306 TMEM40 EXON Synonymous_G228G exm291122 3 12777111 [A/G] NM_018306 TMEM40 EXON Missense_R209C exm291131 3 12778302 [A/C] NM_018306 TMEM40 EXON Missense_A169S exm291142 3 12780070 [T/C] NM_018306 TMEM40 EXON Missense_V125I exm291153 3 12785414 [T/C] NM_018306 TMEM40 EXON Missense_G96R exm291156 3 12785441 [A/G] NM_018306 TMEM40 EXON Missense_R87W exm291157 3 12785444 [A/G] NM_018306 TMEM40 EXON Nonsense_R86X exm291158 3 12785447 [A/G] NM_018306 TMEM40 EXON Missense_H85Y exm291172 3 12790229 [T/C] NM_018306 TMEM40 EXON Missense_E46K exm291192 3 12845013 [T/C] NM_012298,NM_001162499 CAND2,CAND2 EXON Missense_S32L,Missense_S32L exm291198 3 12848822 [T/C] NM_012298,NM_001162499 CAND2,CAND2 EXON Silent,Missense_V77A exm291199 3 12848861 [T/C] NM_012298,NM_001162499 CAND2,CAND2 EXON Silent,Missense_T90I exm291229 3 12854873 [T/A] NM_012298,NM_001162499 CAND2,CAND2 EXON Missense_E238V,Missense_E331V exm291235 3 12856711 [A/G] NM_012298,NM_001162499 CAND2,CAND2 EXON Missense_A267T,Missense_A360T exm291236 3 12856727 [T/C] NM_012298,NM_001162499 CAND2,CAND2 EXON Missense_S272L,Missense_S365L exm291237 3 12856730 [A/G] NM_012298,NM_001162499 CAND2,CAND2 EXON Missense_R273Q,Missense_R366Q exm291244 3 12856856 [A/G] NM_012298,NM_001162499 CAND2,CAND2 EXON Missense_Q315R,Missense_Q408R exm291245 3 12856857 [T/G] NM_012298,NM_001162499 CAND2,CAND2 EXON Missense_Q315H,Missense_Q408H exm291247 3 12856903 [A/G] NM_012298,NM_001162499 CAND2,CAND2 EXON Missense_G331S,Missense_G424S exm291254 3 12857413 [G/C] NM_012298,NM_001162499 CAND2,CAND2 EXON Missense_S356R,Missense_S449R exm291257 3 12857493 [T/C] NM_012298,NM_001162499 CAND2,CAND2 EXON Missense_P383L,Missense_P476L exm2037054 3 12857880 [C/G] NM_012298,NM_001162499 CAND2,CAND2 EXON Missense_I390M,Missense_I483M exm291259 3 12857896 [T/C] NM_012298,NM_001162499 CAND2,CAND2 EXON Missense_R396C,Missense_R489C exm291262 3 12857920 [A/G] NM_012298,NM_001162499 CAND2,CAND2 EXON Missense_M404V,Missense_M497V exm291264 3 12857959 [A/G] NM_012298,NM_001162499 CAND2,CAND2 EXON Missense_E417K,Missense_E510K exm291265 3 12857978 [A/T] NM_012298,NM_001162499 CAND2,CAND2 EXON Missense_H423L,Missense_H516L exm291268 3 12858028 [T/C] NM_012298,NM_001162499 CAND2,CAND2 EXON Missense_S440P,Missense_S533P exm291274 3 12858158 [T/C] NM_012298,NM_001162499 CAND2,CAND2 EXON Missense_A483V,Missense_A576V exm291283 3 12858290 [A/G] NM_012298,NM_001162499 CAND2,CAND2 EXON Missense_R527H,Missense_R620H exm291288 3 12858319 [A/G] NM_012298,NM_001162499 CAND2,CAND2 EXON Missense_A537T,Missense_A630T exm291290 3 12858346 [A/G] NM_012298,NM_001162499 CAND2,CAND2 EXON Missense_V546I,Missense_V639I exm291292 3 12858380 [A/T] NM_012298,NM_001162499 CAND2,CAND2 EXON Missense_L557Q,Missense_L650Q exm291294 3 12858395 [A/G] NM_012298,NM_001162499 CAND2,CAND2 EXON Missense_H562R,Missense_H655R exm291296 3 12858428 [A/G] NM_012298,NM_001162499 CAND2,CAND2 EXON Missense_R573Q,Missense_R666Q exm291301 3 12858557 [A/G] NM_012298,NM_001162499 CAND2,CAND2 EXON Missense_H616R,Missense_H709R exm291312 3 12858779 [T/C] NM_012298,NM_001162499 CAND2,CAND2 EXON Missense_A690V,Missense_A783V exm291316 3 12858847 [T/C] NM_012298,NM_001162499 CAND2,CAND2 EXON Missense_R713W,Missense_R806W exm291318 3 12858901 [T/A] NM_012298,NM_001162499 CAND2,CAND2 EXON Missense_S731C,Missense_S824C exm291323 3 12858929 [T/C] NM_012298,NM_001162499 CAND2,CAND2 EXON Missense_P740L,Missense_P833L exm291326 3 12858966 [T/G] NM_012298,NM_001162499 CAND2,CAND2 EXON Missense_L752F,Missense_L845F exm291328 3 12859004 [A/C] NM_012298,NM_001162499 CAND2,CAND2 EXON Missense_H765P,Missense_H858P exm291334 3 12859091 [A/G] NM_012298,NM_001162499 CAND2,CAND2 EXON Missense_R794H,Missense_R887H exm2037070 3 12859262 [A/G] NM_012298,NM_001162499 CAND2,CAND2 EXON Missense_R851H,Missense_R944H exm291350 3 12859342 [T/C] NM_012298,NM_001162499 CAND2,CAND2 EXON Missense_L878F,Missense_L971F exm291354 3 12861586 [T/C] NM_012298,NM_001162499 CAND2,CAND2 EXON Synonymous_G889G,Synonymous_G982G exm291357 3 12861600 [A/G] NM_012298,NM_001162499 CAND2,CAND2 EXON Missense_R894Q,Missense_R987Q exm291358 3 12861608 [A/G] NM_012298,NM_001162499 CAND2,CAND2 EXON Missense_V897I,Missense_V990I exm291364 3 12861680 [A/G] NM_012298,NM_001162499 CAND2,CAND2 EXON Missense_A921T,Missense_G1014R exm291366 3 12867010 [T/C] NM_012298,NM_001162499 CAND2,CAND2 EXON Silent,Missense_R1028C exm291369 3 12867119 [A/G] NM_012298,NM_001162499 CAND2,CAND2 EXON Missense_R947Q,Missense_R1064Q exm291377 3 12868994 [T/C] NM_012298,NM_001162499 CAND2,CAND2 EXON Missense_A972V,Missense_A1089V exm291378 3 12869045 [A/G] NM_012298,NM_001162499 CAND2,CAND2 EXON Missense_D989G,Missense_D1106G exm291383 3 12872995 [T/C] NM_012298,NM_001162499 CAND2,CAND2 EXON Missense_A1019V,Missense_A1136V exm291387 3 12875306 [A/G] NM_012298,NM_001162499 CAND2,CAND2 EXON Missense_R1062H,Missense_R1179H exm291390 3 12875347 [A/G] NM_012298,NM_001162499 CAND2,CAND2 EXON Missense_E1076K,Missense_E1193K exm291396 3 12875443 [A/G] NM_012298,NM_001162499 CAND2,CAND2 EXON Missense_A1108T,Missense_A1225T exm291397 3 12875455 [A/G] NM_012298,NM_001162499 CAND2,CAND2 EXON Missense_S1112G,Missense_S1229G exm291449 3 12942710 [T/C] NM_001134382,NM_014869 IQSEC1,IQSEC1 EXON Synonymous_P1039P,Silent exm291460 3 12943013 [T/G] NM_001134382,NM_014869 IQSEC1,IQSEC1 EXON Missense_I939L,Silent exm291474 3 12950002 [T/C] NM_001134382,NM_014869 IQSEC1,IQSEC1 EXON Missense_V868I,Missense_V882I exm2037585 3 12953129 [A/G] NM_001134382,NM_014869 IQSEC1,IQSEC1 EXON Missense_Y806H,Missense_Y820H exm2275218 3 12957095 [A/G] NM_001134382,NM_014869 IQSEC1,IQSEC1 EXON Missense_P720L,Missense_P734L exm291494 3 12957173 [A/C] NM_001134382,NM_014869 IQSEC1,IQSEC1 EXON Missense_R694L,Missense_R708L exm291497 3 12957207 [A/G] NM_001134382,NM_014869 IQSEC1,IQSEC1 EXON Missense_R683C,Missense_R697C exm291501 3 12961945 [T/C] NM_001134382,NM_014869 IQSEC1,IQSEC1 EXON Missense_I669V,Missense_I683V exm291505 3 12962074 [A/G] NM_001134382,NM_014869 IQSEC1,IQSEC1 EXON Missense_P626S,Missense_P640S exm291525 3 12976987 [T/C] NM_001134382,NM_014869 IQSEC1,IQSEC1 EXON Missense_R510H,Missense_R524H exm291540 3 12977185 [T/G] NM_001134382,NM_014869 IQSEC1,IQSEC1 EXON Missense_Q444P,Missense_Q458P exm2037622 3 12977188 [T/C] NM_001134382,NM_014869 IQSEC1,IQSEC1 EXON Missense_R443Q,Missense_R457Q exm291542 3 12977230 [T/C] NM_001134382,NM_014869 IQSEC1,IQSEC1 EXON Missense_R429K,Missense_R443K exm2037628 3 12977479 [T/C] NM_001134382,NM_014869 IQSEC1,IQSEC1 EXON Missense_R346Q,Missense_R360Q exm291567 3 12977602 [A/G] NM_001134382,NM_014869 IQSEC1,IQSEC1 EXON Missense_S305L,Missense_S319L exm291572 3 12977686 [T/C] NM_001134382,NM_014869 IQSEC1,IQSEC1 EXON Missense_R277H,Missense_R291H exm2037633 3 12977696 [T/C] NM_001134382,NM_014869 IQSEC1,IQSEC1 EXON Missense_M274V,Missense_M288V exm291576 3 12977710 [A/G] NM_001134382,NM_014869 IQSEC1,IQSEC1 EXON Missense_T269I,Missense_T283I exm291584 3 12977855 [T/C] NM_001134382,NM_014869 IQSEC1,IQSEC1 EXON Missense_A221T,Missense_A235T exm2255684 3 12977856 [A/G] NM_001134382,NM_014869 IQSEC1,IQSEC1 EXON Synonymous_D220D,Synonymous_D234D exm291611 3 12983234 [T/C] NM_001134382,NM_014869 IQSEC1,IQSEC1 EXON Missense_Y52C,Missense_Y66C exm291617 3 12983355 [T/C] NM_001134382,NM_014869 IQSEC1,IQSEC1 EXON Missense_E12K,Missense_E26K exm2269404 3 13232556 [T/C] exm291628 3 13360604 [A/G] NM_024923 NUP210 EXON Missense_T1844M exm291630 3 13360631 [T/C] NM_024923 NUP210 EXON Missense_R1835Q exm291642 3 13361277 [T/C] NM_024923 NUP210 EXON Missense_R1790H exm291644 3 13361287 [T/C] NM_024923 NUP210 EXON Missense_V1787M exm291647 3 13361332 [T/C] NM_024923 NUP210 EXON Missense_V1772M exm291654 3 13361391 [A/G] NM_024923 NUP210 EXON Missense_L1752S exm291658 3 13361403 [A/G] NM_024923 NUP210 EXON Missense_T1748M exm291663 3 13363084 [A/C] NM_024923 NUP210 Silent exm291664 3 13363102 [T/C] NM_024923 NUP210 EXON Missense_V1717I exm291683 3 13364836 [T/C] NM_024923 NUP210 EXON Missense_V1581M exm291688 3 13364910 [A/C] NM_024923 NUP210 EXON Missense_R1556M exm291694 3 13367357 [A/G] NM_024923 NUP210 EXON Missense_R1528W exm291701 3 13368741 [T/C] NM_024923 NUP210 EXON Missense_A1495T exm291704 3 13368824 [A/G] NM_024923 NUP210 EXON Missense_S1467L exm291708 3 13368843 [T/C] NM_024923 NUP210 EXON Missense_A1461T exm291716 3 13370299 [T/C] NM_024923 NUP210 EXON Missense_S1420G exm291725 3 13371970 [A/G] NM_024923 NUP210 EXON Missense_V1367A exm291738 3 13373830 [T/C] NM_024923 NUP210 EXON Missense_M1300V exm291739 3 13373846 [T/A] NM_024923 NUP210 EXON Missense_E1294D exm291753 3 13378322 [A/G] NM_024923 NUP210 EXON Missense_R1217W exm291758 3 13379357 [A/G] NM_024923 NUP210 EXON Missense_R1178W exm291761 3 13379372 [A/G] NM_024923 NUP210 EXON Missense_R1173C exm291772 3 13381419 [T/C] NM_024923 NUP210 EXON Missense_G1136S exm291775 3 13381437 [T/C] NM_024923 NUP210 EXON Missense_G1130S exm2038636 3 13383282 [A/C] NM_024923 NUP210 EXON Missense_G1065V exm291792 3 13383315 [G/C] NM_024923 NUP210 EXON Missense_T1054S exm291793 3 13383322 [T/C] NM_024923 NUP210 EXON Missense_G1052S exm291796 3 13383511 [A/G] NM_024923 NUP210 EXON Missense_P1026L exm291800 3 13383596 [A/G] NM_024923 NUP210 EXON Missense_Y998H exm291809 3 13384748 [A/G] NM_024923 NUP210 EXON Missense_V964A exm291814 3 13393479 [A/G] NM_024923 NUP210 EXON Missense_A912V exm291821 3 13393678 [A/G] NM_024923 NUP210 EXON Missense_P879S exm291826 3 13395097 [T/C] NM_024923 NUP210 EXON Missense_G862D exm291827 3 13395125 [T/C] NM_024923 NUP210 EXON Missense_T853A exm291828 3 13395137 [T/C] NM_024923 NUP210 EXON Missense_E849K exm291830 3 13395416 [A/G] NM_024923 NUP210 EXON Synonymous_H840H exm291831 3 13395433 [T/C] NM_024923 NUP210 EXON Missense_G835S exm291832 3 13395445 [C/G] NM_024923 NUP210 EXON Missense_D831H exm291834 3 13395475 [C/G] NM_024923 NUP210 EXON Missense_P821A exm291838 3 13395579 [A/C] NM_024923 NUP210 EXON Missense_R786L exm291842 3 13399786 [A/G] NM_024923 NUP210 EXON Missense_A755V exm2238654 3 13399852 [C/G] NM_024923 NUP210 EXON Missense_P733R exm2038675 3 13399853 [T/G] NM_024923 NUP210 EXON Missense_P733T exm291857 3 13407493 [T/C] NM_024923 NUP210 EXON Missense_V629I exm291864 3 13407556 [T/C] NM_024923 NUP210 EXON Missense_I608V exm291869 3 13413348 [A/G] NM_024923 NUP210 EXON Missense_F591S exm291892 3 13417126 [A/T] NM_024923 NUP210 EXON Missense_I437L exm291918 3 13421116 [A/G] NM_024923 NUP210 EXON Missense_S308L exm291919 3 13421143 [A/G] NM_024923 NUP210 EXON Missense_P299L exm291920 3 13421150 [T/C] NM_024923 NUP210 EXON Missense_A297T exm291921 3 13421162 [T/C] NM_024923 NUP210 EXON Missense_E293K exm291922 3 13421170 [A/G] NM_024923 NUP210 EXON Missense_P290L exm291925 3 13427829 [T/C] NM_024923 NUP210 EXON Missense_V255M exm2038797 3 13429826 [A/G] NM_024923 NUP210 EXON Missense_R221C exm2038799 3 13429930 [A/G] NM_024923 NUP210 EXON Missense_T186M exm291948 3 13438979 [T/C] NM_024923 NUP210 EXON Missense_Q105R exm291992 3 13543384 [A/G] NM_024827,NM_001136041 HDAC11,HDAC11 EXON Missense_R168H,Missense_R117H exm292002 3 13545606 [A/G] NM_024827,NM_001136041 HDAC11,HDAC11 EXON Missense_R221Q,Missense_R170Q exm292026 3 13546167 [A/C] NM_024827,NM_001136041 HDAC11,HDAC11 EXON Missense_P343H,Missense_P292H exm292034 3 13611988 [A/G] NM_001998,NM_001004019,NM_001165035 FBLN2,FBLN2,FBLN2 EXON Missense_I45V,Missense_I45V,Missense_I45V exm2255716 3 13612026 [A/G] NM_001998,NM_001004019,NM_001165035 FBLN2,FBLN2,FBLN2 EXON Synonymous_T57T,Synonymous_T57T,Synonymous_T57T exm292044 3 13612108 [A/G] NM_001998,NM_001004019,NM_001165035 FBLN2,FBLN2,FBLN2 EXON Missense_A85T,Missense_A85T,Missense_A85T exm292050 3 13612224 [T/G] NM_001998,NM_001004019,NM_001165035 FBLN2,FBLN2,FBLN2 EXON Missense_E123D,Missense_E123D,Missense_E123D exm292057 3 13612319 [T/C] NM_001998,NM_001004019,NM_001165035 FBLN2,FBLN2,FBLN2 EXON Missense_P155L,Missense_P155L,Missense_P155L exm292058 3 13612327 [T/C] NM_001998,NM_001004019,NM_001165035 FBLN2,FBLN2,FBLN2 EXON Missense_R158W,Missense_R158W,Missense_R158W exm292070 3 13612459 [G/C] NM_001998,NM_001004019,NM_001165035 FBLN2,FBLN2,FBLN2 EXON Missense_E202Q,Missense_E202Q,Missense_E202Q exm292071 3 13612468 [A/G] NM_001998,NM_001004019,NM_001165035 FBLN2,FBLN2,FBLN2 EXON Missense_E205K,Missense_E205K,Missense_E205K exm292081 3 13612717 [A/G] NM_001998,NM_001004019,NM_001165035 FBLN2,FBLN2,FBLN2 EXON Missense_E288K,Missense_E288K,Missense_E288K exm292082 3 13612786 [A/G] NM_001998,NM_001004019,NM_001165035 FBLN2,FBLN2,FBLN2 EXON Missense_A311T,Missense_A311T,Missense_A311T exm292088 3 13612901 [A/G] NM_001998,NM_001004019,NM_001165035 FBLN2,FBLN2,FBLN2 EXON Missense_R349H,Missense_R349H,Missense_R349H exm292091 3 13612921 [A/G] NM_001998,NM_001004019,NM_001165035 FBLN2,FBLN2,FBLN2 EXON Missense_V356M,Missense_V356M,Missense_V356M exm292097 3 13613015 [A/C] NM_001998,NM_001004019,NM_001165035 FBLN2,FBLN2,FBLN2 EXON Missense_N387T,Missense_N387T,Missense_N387T exm292103 3 13613081 [T/C] NM_001998,NM_001004019,NM_001165035 FBLN2,FBLN2,FBLN2 EXON Missense_P409L,Missense_P409L,Missense_P409L exm292115 3 13651070 [T/C] NM_001998,NM_001004019,NM_001165035 FBLN2,FBLN2,FBLN2 EXON Synonymous_G492G,Synonymous_G492G,Synonymous_G492G exm2255718 3 13651070 [T/C] NM_001998,NM_001004019,NM_001165035 FBLN2,FBLN2,FBLN2 EXON Synonymous_G492G,Synonymous_G492G,Synonymous_G492G exm292123 3 13655548 [A/G] NM_001998,NM_001004019,NM_001165035 FBLN2,FBLN2,FBLN2 EXON Missense_N538S,Missense_N538S,Missense_N538S exm292135 3 13659653 [A/G] NM_001998,NM_001004019,NM_001165035 FBLN2,FBLN2,FBLN2 EXON Missense_D603N,Missense_D603N,Missense_D603N exm292138 3 13659770 [T/C] NM_001998,NM_001004019,NM_001165035 FBLN2,FBLN2,FBLN2 EXON Missense_R642C,Missense_R642C,Missense_R642C exm2261389 3 13659897 [A/C] NM_001998,NM_001004019,NM_001165035 FBLN2,FBLN2,FBLN2 Silent,Silent,Silent exm292140 3 13660463 [T/C] NM_001998,NM_001004019,NM_001165035 FBLN2,FBLN2,FBLN2 EXON Nonsense_Q667X,Nonsense_Q667X,Nonsense_Q667X exm292142 3 13660487 [A/C] NM_001998,NM_001004019,NM_001165035 FBLN2,FBLN2,FBLN2 EXON Missense_L675M,Missense_L675M,Missense_L675M exm292143 3 13660506 [A/G] NM_001998,NM_001004019,NM_001165035 FBLN2,FBLN2,FBLN2 EXON Missense_N681S,Missense_N681S,Missense_N681S exm292144 3 13660508 [A/G] NM_001998,NM_001004019,NM_001165035 FBLN2,FBLN2,FBLN2 EXON Missense_T682A,Missense_T682A,Missense_T682A exm292148 3 13661269 [A/G] NM_001998,NM_001004019,NM_001165035 FBLN2,FBLN2,FBLN2 EXON Missense_G698D,Missense_G698D,Missense_G698D exm292152 3 13661319 [A/G] NM_001998,NM_001004019,NM_001165035 FBLN2,FBLN2,FBLN2 EXON Missense_V715M,Missense_V715M,Missense_V715M exm292158 3 13663365 [T/C] NM_001998,NM_001004019,NM_001165035 FBLN2,FBLN2,FBLN2 EXON Silent,Missense_T749I,Missense_T749I exm292162 3 13667983 [T/C] NM_001998,NM_001004019,NM_001165035 FBLN2,FBLN2,FBLN2 EXON Missense_R732W,Missense_R779W,Missense_R779W exm292166 3 13669333 [T/C] NM_001998,NM_001004019,NM_001165035 FBLN2,FBLN2,FBLN2 EXON Synonymous_D764D,Synonymous_D811D,Synonymous_D811D exm292174 3 13670493 [A/C] NM_001998,NM_001004019,NM_001165035 FBLN2,FBLN2,FBLN2 EXON Missense_N839K,Missense_N886K,Missense_N886K exm292181 3 13670536 [A/G] NM_001998,NM_001004019,NM_001165035 FBLN2,FBLN2,FBLN2 EXON Missense_T854A,Missense_T901A,Missense_T901A exm292182 3 13670665 [T/C] NM_001998,NM_001004019,NM_001165035 FBLN2,FBLN2,FBLN2 EXON Synonymous_D858D,Synonymous_D905D,Synonymous_D905D exm292194 3 13670791 [T/C] NM_001998,NM_001004019,NM_001165035 FBLN2,FBLN2,FBLN2 EXON Synonymous_I900I,Synonymous_I947I,Synonymous_I947I exm292195 3 13671321 [T/C] NM_001998,NM_001004019,NM_001165035 FBLN2,FBLN2,FBLN2 EXON Synonymous_D901D,Synonymous_D948D,Synonymous_D948D exm292198 3 13671392 [A/G] NM_001998,NM_001004019,NM_001165035 FBLN2,FBLN2,FBLN2 EXON Missense_R925H,Missense_R972H,Missense_R972H exm292205 3 13672274 [A/G] NM_001998,NM_001004019,NM_001165035 FBLN2,FBLN2,FBLN2 EXON Missense_R968H,Missense_R1015H,Missense_R1015H exm2039185 3 13672855 [A/G] NM_001998,NM_001004019,NM_001165035 FBLN2,FBLN2,FBLN2 EXON Missense_G991S,Missense_G1038S,Missense_G1038S exm292215 3 13672930 [A/G] NM_001998,NM_001004019,NM_001165035 FBLN2,FBLN2,FBLN2 EXON Missense_M1016V,Missense_M1063V,Missense_M1063V exm2039191 3 13672946 [A/G] NM_001998,NM_001004019,NM_001165035 FBLN2,FBLN2,FBLN2 EXON Missense_R1021K,Missense_R1068K,Missense_R1068K exm292217 3 13677946 [T/C] NM_001998,NM_001004019,NM_001165035 FBLN2,FBLN2,FBLN2 EXON Synonymous_D1025D,Synonymous_D1072D,Synonymous_D1072D exm292223 3 13678020 [A/G] NM_001998,NM_001004019,NM_001165035 FBLN2,FBLN2,FBLN2 EXON Missense_R1050H,Missense_R1097H,Missense_R1097H exm292229 3 13678068 [T/C] NM_001998,NM_001004019,NM_001165035 FBLN2,FBLN2,FBLN2 EXON Missense_T1066M,Missense_T1113M,Missense_T1113M exm292234 3 13679148 [T/C] NM_001998,NM_001004019,NM_001165035 FBLN2,FBLN2,FBLN2 EXON Missense_T1095M,Missense_T1142M,Missense_T1142M exm2255720 3 13679167 [A/G] NM_001998,NM_001004019,NM_001165035 FBLN2,FBLN2,FBLN2 EXON Synonymous_A1101A,Synonymous_A1148A,Synonymous_A1148A exm292239 3 13679190 [T/C] NM_001998,NM_001004019,NM_001165035 FBLN2,FBLN2,FBLN2 EXON Missense_A1109V,Missense_A1156V,Missense_A1156V exm-rs9846232 3 13743132 [T/G] NR_027103 LINC00620 Silent exm292255 3 13860463 [A/G] NM_004625 WNT7A EXON Missense_T343M exm292276 3 13896108 [T/C] NM_004625 WNT7A EXON Missense_K164R exm292280 3 13896129 [T/C] NM_004625 WNT7A EXON Missense_R157H exm292357 3 14157941 [G/C] NM_144636,NM_001098502 CHCHD4,CHCHD4 EXON Missense_P49A,Missense_P36A exm292361 3 14163417 [A/C] NM_144636,NM_001098502 CHCHD4,CHCHD4 EXON Missense_G21W,Silent exm292377 3 14170981 [T/C] NM_024334 TMEM43 EXON Missense_R28W exm292384 3 14172325 [T/C] NM_024334 TMEM43 EXON Missense_R56C exm292385 3 14172328 [A/G] NM_024334 TMEM43 EXON Missense_A57T exm292388 3 14172381 [T/C] NM_024334 TMEM43 EXON Synonymous_P74P exm2255736 3 14172381 [T/C] NM_024334 TMEM43 EXON Synonymous_P74P exm292393 3 14172430 [A/G] NM_024334 TMEM43 EXON Missense_I91V exm292410 3 14174407 [A/G] NM_024334 TMEM43 EXON Missense_D162N exm292412 3 14174427 [A/T] NM_024334 TMEM43 EXON Missense_K168N exm292415 3 14175262 [T/C] NM_024334 TMEM43 EXON Missense_M179T exm292421 3 14176384 [A/G] NM_024334 TMEM43 EXON Missense_Y233C exm292439 3 14180693 [C/G] NM_024334 TMEM43 EXON Missense_R299T exm292441 3 14180731 [T/C] NM_024334 TMEM43 EXON Missense_R312W exm292442 3 14180744 [C/G] NM_024334 TMEM43 EXON Missense_W316S exm292443 3 14180750 [T/C] NM_024334 TMEM43 EXON Missense_A318V exm292448 3 14183153 [C/G] NM_024334 TMEM43 EXON Missense_C354S exm292451 3 14183188 [A/G] NM_024334 TMEM43 EXON Missense_A366T exm292452 3 14183197 [T/C] NM_024334 TMEM43 EXON Missense_L369F exm2039992 3 14183203 [T/C] NM_024334 TMEM43 EXON Missense_Y371H exm292458 3 14187449 [T/G] NM_001145769,NM_004628,NR_027299 XPC,XPC,XPC EXON Missense_Q902K,Missense_Q939K,Silent exm292459 3 14187482 [T/G] NM_001145769,NM_004628,NR_027299 XPC,XPC,XPC EXON Missense_K891Q,Missense_K928Q,Silent exm2277247 3 14187542 [A/G] NM_001145769,NM_004628,NR_027299 XPC,XPC,XPC EXON Nonsense_R871X,Nonsense_R908X,Silent exm2255737 3 14189426 [A/G] NM_001145769,NM_004628,NR_027299 XPC,XPC,XPC EXON Synonymous_I795I,Synonymous_I832I,Silent exm292481 3 14190078 [T/C] NM_001145769,NM_004628,NR_027299 XPC,XPC,XPC EXON Missense_G765S,Missense_G802S,Silent exm292499 3 14193884 [A/G] NM_001145769,NM_004628,NR_027299 XPC,XPC,XPC EXON Missense_T652M,Missense_T689M,Silent exm292509 3 14199542 [A/G] NM_001145769,NM_004628,NR_027299 XPC,XPC,XPC EXON Missense_F577S,Missense_F614S,Silent exm292511 3 14199602 [T/C] NM_001145769,NM_004628,NR_027299 XPC,XPC,XPC EXON Missense_R557H,Missense_R594H,Silent exm292512 3 14199603 [A/G] NM_001145769,NM_004628,NR_027299 XPC,XPC,XPC EXON Missense_R557C,Missense_R594C,Silent exm2238725 3 14199767 [T/C] NM_001145769,NM_004628,NR_027299 XPC,XPC,XPC EXON Missense_E502G,Missense_E539G,Silent exm292522 3 14199844 [G/C] NM_001145769,NM_004628,NR_027299 XPC,XPC,XPC EXON Missense_M476I,Missense_M513I,Silent exm292528 3 14199887 [A/G] NM_001145769,NM_004628,NR_027299 XPC,XPC,XPC EXON Missense_A462V,Missense_A499V,Silent exm292529 3 14199908 [T/C] NM_001145769,NM_004628,NR_027299 XPC,XPC,XPC EXON Missense_R455H,Missense_R492H,Silent exm292530 3 14199940 [A/C] NM_001145769,NM_004628,NR_027299 XPC,XPC,XPC EXON Missense_K444N,Missense_K481N,Silent exm292542 3 14200206 [A/G] NM_001145769,NM_004628,NR_027299 XPC,XPC,XPC EXON Missense_R356W,Missense_R393W,Silent exm292545 3 14200382 [T/G] NM_001145769,NM_004628,NR_027299 XPC,XPC,XPC EXON Missense_P297H,Missense_P334H,Silent exm292548 3 14206328 [A/C] NM_001145769,NM_004628,NR_027299 XPC,XPC,XPC EXON Missense_D258E,Missense_D295E,Silent exm292550 3 14206341 [G/C] NM_001145769,NM_004628,NR_027299 XPC,XPC,XPC EXON Missense_S254C,Missense_S291C,Silent exm292551 3 14206353 [A/C] NM_001145769,NM_004628,NR_027299 XPC,XPC,XPC EXON Missense_F250C,Missense_F287C,Silent exm292555 3 14206958 [T/C] NM_001145769,NM_004628,NR_027299 XPC,XPC,XPC EXON Missense_D213G,Missense_D250G,Silent exm2040097 3 14208697 [T/C] NM_001145769,NM_004628,NR_027299 XPC,XPC,XPC EXON Missense_N161S,Missense_N198S,Silent exm292559 3 14208716 [T/C] NM_001145769,NM_004628,NR_027299 XPC,XPC,XPC EXON Missense_R155G,Missense_R192G,Silent exm292561 3 14209787 [A/G] NM_001145769,NM_004628,NR_027299 XPC,XPC,XPC EXON Silent,Missense_T169M,Silent exm292571 3 14212050 [T/C] NM_001145769,NM_004628,NR_027299 XPC,XPC,XPC EXON Synonymous_R100R,Synonymous_R100R,Silent exm292572 3 14214475 [G/C] NM_001145769,NM_004628,NR_027299 XPC,XPC,XPC EXON Missense_G64A,Missense_G64A,Silent exm292574 3 14214524 [A/G] NM_001145769,NM_004628,NR_027299 XPC,XPC,XPC EXON Missense_L48F,Missense_L48F,Silent exm2040159 3 14214561 [T/A] NM_001145769,NM_004628,NR_027299 XPC,XPC,XPC EXON Missense_D35E,Missense_D35E,Silent exm292577 3 14220032 [C/G] NM_001145769,NM_004628,NR_027299 XPC,XPC,XPC EXON Missense_G13R,Missense_G13R,Silent exm2269406 3 14424656 [T/C] exm292612 3 14487358 [T/C] NM_001134367,NM_003043,NM_001134368 SLC6A6,SLC6A6,SLC6A6 EXON Synonymous_S121S,Synonymous_S121S,Synonymous_S121S exm292615 3 14489107 [A/G] NM_001134367,NM_003043,NM_001134368 SLC6A6,SLC6A6,SLC6A6 EXON Missense_V128I,Missense_V128I,Missense_V128I exm292624 3 14499573 [A/G] NM_001134367,NM_003043 SLC6A6,SLC6A6 EXON Missense_V239I,Missense_V239I exm292642 3 14518815 [A/C] NM_001134367,NM_003043 SLC6A6,SLC6A6 EXON Missense_I438L,Missense_I438L exm292645 3 14520036 [T/G] NM_001134367,NM_003043 SLC6A6,SLC6A6 EXON Missense_W470C,Missense_W470C exm292652 3 14523209 [A/G] NM_001134367,NM_003043 SLC6A6,SLC6A6 EXON Missense_V528I,Missense_V528I exm292653 3 14523255 [T/C] NM_001134367,NM_003043 SLC6A6,SLC6A6 EXON Missense_I543T,Missense_I543T exm292655 3 14523296 [A/G] NM_001134367,NM_003043 SLC6A6,SLC6A6 EXON Missense_V557I,Missense_V557I exm292662 3 14526454 [A/G] NM_001134367,NM_003043 SLC6A6,SLC6A6 EXON Missense_R601H,Missense_R601H exm292663 3 14526459 [A/G] NM_001134367,NM_003043 SLC6A6,SLC6A6 EXON Missense_V603I,Missense_V603I exm292664 3 14526466 [A/G] NM_001134367,NM_003043 SLC6A6,SLC6A6 EXON Missense_N605S,Missense_N605S exm-rs9036 3 14530721 [A/G] NM_001134367,NM_003043,NM_001080423 SLC6A6,SLC6A6,GRIP2 EXON Silent,Silent,Silent exm2040555 3 14535183 [T/C] NM_001080423 GRIP2 EXON Missense_G1138R exm292682 3 14535267 [T/G] NM_001080423 GRIP2 EXON Missense_M1110L exm292703 3 14545077 [G/C] NM_001080423 GRIP2 EXON Missense_W989S exm292704 3 14545080 [T/C] NM_001080423 GRIP2 EXON Missense_N988S exm292706 3 14545122 [A/G] NM_001080423 GRIP2 EXON Missense_S974L exm292708 3 14545141 [T/C] NM_001080423 GRIP2 EXON Missense_A968T exm292715 3 14547182 [A/G] NM_001080423 GRIP2 EXON Missense_P935L exm292716 3 14547198 [A/G] NM_001080423 GRIP2 EXON Nonsense_R930X exm292725 3 14548425 [T/G] NM_001080423 GRIP2 EXON Missense_Q858K exm292745 3 14551444 [A/G] NM_001080423 GRIP2 EXON Missense_V751A exm292746 3 14551454 [T/C] NM_001080423 GRIP2 EXON Missense_V748M exm292750 3 14552719 [A/G] NM_001080423 GRIP2 EXON Missense_A726V exm292756 3 14552932 [A/G] NM_001080423 GRIP2 EXON Missense_A689V exm292757 3 14552958 [T/C] NM_001080423 GRIP2 EXON Missense_X680W exm292760 3 14552986 [T/C] NM_001080423 GRIP2 EXON Missense_R671Q exm292764 3 14554313 [A/G] NM_001080423 GRIP2 EXON Missense_A661V exm292778 3 14555277 [T/C] NM_001080423 GRIP2 EXON Missense_M609V exm292780 3 14555318 [T/C] NM_001080423 GRIP2 EXON Missense_G595D exm292783 3 14555811 [A/G] NM_001080423 GRIP2 EXON Missense_V591A exm292786 3 14555907 [T/G] NM_001080423 GRIP2 EXON Missense_T559N exm292788 3 14555928 [T/C] NM_001080423 GRIP2 EXON Missense_R552Q exm292792 3 14555968 [A/G] NM_001080423 GRIP2 EXON Missense_R539W exm292842 3 14565939 [A/G] NM_001080423 GRIP2 EXON Missense_R219C exm292859 3 14567382 [T/C] NM_001080423 GRIP2 EXON Missense_A130T exm292862 3 14581790 [A/G] NM_001080423 GRIP2 EXON Missense_T106I exm292872 3 14581893 [A/G] NM_001080423 GRIP2 EXON Missense_S72P exm2238755 3 14583383 [A/G] NM_001080423 GRIP2 EXON Missense_I69T exm292874 3 14583393 [T/C] NM_001080423 GRIP2 EXON Missense_G66S exm292875 3 14583408 [T/G] NM_001080423 GRIP2 EXON Missense_H61N exm2265421 3 14642891 [A/G] exm292889 3 14695976 [T/C] NM_016474 CCDC174 EXON Missense_F29S exm292902 3 14700436 [A/G] NM_016474 CCDC174 EXON Missense_D103N exm292909 3 14703094 [A/G] NM_016474 CCDC174 EXON Missense_R122H exm2238759 3 14703184 [T/G] NM_016474 CCDC174 EXON Missense_I152S exm292912 3 14703201 [T/C] NM_016474 CCDC174 EXON Missense_P158S exm292913 3 14703205 [A/G] NM_016474 CCDC174 EXON Missense_S159N exm292914 3 14706569 [T/C] NM_016474 CCDC174 EXON Missense_R174C exm292918 3 14706603 [A/G] NM_016474 CCDC174 EXON Missense_E185G exm292926 3 14708420 [A/G] NM_016474 CCDC174 EXON Missense_M230I exm292928 3 14708427 [A/G] NM_016474 CCDC174 EXON Missense_V233I exm292937 3 14711441 [A/C] NM_016474 CCDC174 EXON Missense_D318A exm292939 3 14711468 [T/C] NM_016474 CCDC174 EXON Missense_P327L exm2040749 3 14712693 [A/G] NM_016474 CCDC174 EXON Missense_V466M exm292969 3 14724264 [T/C] NM_001184958,NM_032137,NM_001184957 C3orf20,C3orf20,C3orf20 EXON Silent,Missense_T15I,Silent exm292970 3 14724291 [A/G] NM_001184958,NM_032137,NM_001184957 C3orf20,C3orf20,C3orf20 EXON Silent,Missense_R24H,Silent exm292975 3 14724327 [A/G] NM_001184958,NM_032137,NM_001184957 C3orf20,C3orf20,C3orf20 EXON Silent,Missense_G36D,Silent exm292976 3 14724345 [A/G] NM_001184958,NM_032137,NM_001184957 C3orf20,C3orf20,C3orf20 EXON Silent,Missense_G42D,Silent exm292979 3 14724413 [A/G] NM_001184958,NM_032137,NM_001184957 C3orf20,C3orf20,C3orf20 EXON Silent,Missense_D65N,Silent exm292982 3 14724483 [T/C] NM_001184958,NM_032137,NM_001184957 C3orf20,C3orf20,C3orf20 EXON Silent,Missense_V88A,Silent exm292984 3 14724555 [A/G] NM_001184958,NM_032137,NM_001184957 C3orf20,C3orf20,C3orf20 EXON Silent,Missense_G112E,Silent exm292986 3 14724594 [A/G] NM_001184958,NM_032137,NM_001184957 C3orf20,C3orf20,C3orf20 EXON Missense_R3H,Missense_R125H,Missense_R3H exm292992 3 14724698 [A/G] NM_001184958,NM_032137,NM_001184957 C3orf20,C3orf20,C3orf20 EXON Missense_M38V,Missense_M160V,Missense_M38V exm292993 3 14724703 [A/G] NM_001184958,NM_032137,NM_001184957 C3orf20,C3orf20,C3orf20 EXON Synonymous_S39S,Synonymous_S161S,Synonymous_S39S exm293003 3 14725878 [A/G] NM_001184958,NM_032137,NM_001184957 C3orf20,C3orf20,C3orf20 EXON Missense_Q83R,Missense_Q205R,Missense_Q83R exm293009 3 14731555 [T/C] NM_001184958,NM_032137,NM_001184957 C3orf20,C3orf20,C3orf20 EXON Missense_I104T,Missense_I226T,Missense_I104T exm293012 3 14731623 [C/G] NM_001184958,NM_032137,NM_001184957 C3orf20,C3orf20,C3orf20 EXON Missense_G127R,Missense_G249R,Missense_G127R exm293025 3 14745857 [A/G] NM_001184958,NM_032137,NM_001184957 C3orf20,C3orf20,C3orf20 EXON Missense_A176T,Missense_A298T,Missense_A176T exm293027 3 14745890 [A/G] NM_001184958,NM_032137,NM_001184957 C3orf20,C3orf20,C3orf20 EXON Missense_M187V,Missense_M309V,Missense_M187V exm293042 3 14755530 [A/G] NM_001184958,NM_032137,NM_001184957 C3orf20,C3orf20,C3orf20 EXON Missense_V271I,Missense_V393I,Missense_V271I exm293045 3 14755572 [A/G] NM_001184958,NM_032137,NM_001184957 C3orf20,C3orf20,C3orf20 EXON Missense_I285V,Missense_I407V,Missense_I285V exm293048 3 14755617 [G/C] NM_001184958,NM_032137,NM_001184957 C3orf20,C3orf20,C3orf20 EXON Missense_L300V,Missense_L422V,Missense_L300V exm293049 3 14755667 [G/C] NM_001184958,NM_032137,NM_001184957 C3orf20,C3orf20,C3orf20 Silent,Silent,Silent exm293059 3 14763251 [T/C] NM_001184958,NM_032137,NM_001184957 C3orf20,C3orf20,C3orf20 EXON Missense_S387L,Missense_S509L,Missense_S387L exm2238763 3 14763277 [T/G] NM_001184958,NM_032137,NM_001184957 C3orf20,C3orf20,C3orf20 EXON Missense_A396S,Missense_A518S,Missense_A396S exm293068 3 14768516 [A/G] NM_001184958,NM_032137,NM_001184957 C3orf20,C3orf20,C3orf20 EXON Missense_I437V,Missense_I559V,Missense_I437V exm293072 3 14769996 [T/C] NM_001184958,NM_032137,NM_001184957 C3orf20,C3orf20,C3orf20 EXON Missense_R459W,Missense_R581W,Missense_R459W exm293074 3 14770001 [G/C] NM_001184958,NM_032137,NM_001184957 C3orf20,C3orf20,C3orf20 EXON Missense_F460L,Missense_F582L,Missense_F460L exm2040798 3 14798948 [T/C] NM_001184958,NM_032137,NM_001184957 C3orf20,C3orf20,C3orf20 EXON Missense_R549W,Missense_R671W,Missense_R549W exm293089 3 14798976 [A/G] NM_001184958,NM_032137,NM_001184957 C3orf20,C3orf20,C3orf20 EXON Missense_R558H,Missense_R680H,Missense_R558H exm293090 3 14799003 [T/C] NM_001184958,NM_032137,NM_001184957 C3orf20,C3orf20,C3orf20 EXON Missense_A567V,Missense_A689V,Missense_A567V exm293101 3 14799143 [A/G] NM_001184958,NM_032137,NM_001184957 C3orf20,C3orf20,C3orf20 EXON Missense_N614D,Missense_N736D,Missense_N614D exm293103 3 14799170 [T/C] NM_001184958,NM_032137,NM_001184957 C3orf20,C3orf20,C3orf20 EXON Missense_P623S,Missense_P745S,Missense_P623S exm293106 3 14801402 [A/G] NM_001184958,NM_032137,NM_001184957 C3orf20,C3orf20,C3orf20 EXON Missense_R628Q,Missense_R750Q,Missense_R628Q exm293119 3 14803068 [A/G] NM_001184958,NM_032137,NM_001184957 C3orf20,C3orf20,C3orf20 EXON Missense_R692Q,Missense_R814Q,Missense_R692Q exm293121 3 14803109 [T/G] NM_001184958,NM_032137,NM_001184957 C3orf20,C3orf20,C3orf20 EXON Missense_D706Y,Missense_D828Y,Missense_D706Y exm2265563 3 14811258 [A/G] NM_001184958,NM_032137,NM_001184957 C3orf20,C3orf20,C3orf20 Silent,Silent,Silent exm293123 3 14813698 [A/G] NM_001184958,NM_032137,NM_001184957 C3orf20,C3orf20,C3orf20 EXON Missense_E752K,Missense_E874K,Missense_E752K exm293138 3 14860955 [T/C] NM_152536 FGD5 EXON Missense_P126L exm2255759 3 14861289 [A/G] NM_152536 FGD5 EXON Synonymous_R237R exm293156 3 14861476 [A/G] NM_152536 FGD5 EXON Missense_E300K exm293160 3 14861540 [G/C] NM_152536 FGD5 EXON Missense_A321G exm293163 3 14861671 [T/C] NM_152536 FGD5 EXON Missense_L365F exm293166 3 14861725 [T/C] NM_152536 FGD5 EXON Missense_R383C exm293169 3 14861785 [A/G] NM_152536 FGD5 EXON Missense_G403R exm2255760 3 14861823 [T/C] NM_152536 FGD5 EXON Synonymous_V415V exm293188 3 14862085 [T/C] NM_152536 FGD5 EXON Missense_P503S exm2238770 3 14862112 [A/G] NM_152536 FGD5 EXON Missense_I512V exm293190 3 14862121 [A/G] NM_152536 FGD5 EXON Missense_A515T exm293196 3 14862227 [T/C] NM_152536 FGD5 EXON Missense_S550L exm293198 3 14862235 [A/G] NM_152536 FGD5 EXON Missense_V553M exm293200 3 14862262 [A/G] NM_152536 FGD5 EXON Missense_V562M exm293201 3 14862275 [T/C] NM_152536 FGD5 EXON Missense_P566L exm293216 3 14862567 [T/G] NM_152536 FGD5 EXON Missense_K663N exm293222 3 14862640 [A/G] NM_152536 FGD5 EXON Missense_G688R exm293226 3 14862704 [A/G] NM_152536 FGD5 EXON Missense_R709Q exm293238 3 14863060 [A/G] NM_152536 FGD5 EXON Missense_A828T exm293240 3 14863096 [A/G] NM_152536 FGD5 EXON Missense_A840T exm-rs294636 3 14899778 [T/G] NM_152536 FGD5 Silent exm293242 3 14905700 [T/C] NM_152536 FGD5 EXON Missense_S864L exm293248 3 14922265 [G/C] NM_152536 FGD5 EXON Missense_Q912E exm293252 3 14939082 [T/C] NM_152536 FGD5 EXON Missense_R939W exm293253 3 14939088 [A/G] NM_152536 FGD5 EXON Missense_E941K exm293257 3 14939462 [A/G] NM_152536 FGD5 EXON Missense_V976I exm293259 3 14939471 [A/G] NM_152536 FGD5 EXON Missense_V979I exm293274 3 14942551 [A/G] NM_152536 FGD5 EXON Missense_D1083N exm293288 3 14958805 [A/G] NM_152536 FGD5 EXON Missense_R1152Q exm293312 3 14964637 [A/G] NM_152536 FGD5 EXON Missense_G1298R exm293314 3 14965580 [A/G] NM_152536 FGD5 EXON Missense_V1335I exm293318 3 14967590 [G/C] NM_152536 FGD5 EXON Missense_G1361A exm293319 3 14967622 [T/C] NM_152536 FGD5 EXON Missense_R1372W exm293322 3 14967694 [A/G] NM_152536 FGD5 EXON Missense_M1396V exm2041362 3 15062438 [A/G] NM_003298 NR2C2 EXON Synonymous_E204E exm293367 3 15065667 [T/G] NM_003298 NR2C2 EXON Missense_Q269H exm293379 3 15071948 [A/G] NM_003298 NR2C2 EXON Missense_V386I exm293395 3 15079643 [T/C] NM_003298 NR2C2 EXON Synonymous_P522P exm293409 3 15084430 [A/G] NM_003298 NR2C2 EXON Missense_N588S exm293417 3 15094061 [A/G] NM_022497 MRPS25 EXON Missense_R137W exm293419 3 15094075 [T/C] NM_022497 MRPS25 EXON Missense_R132Q exm293438 3 15115296 [C/G] NM_022340 ZFYVE20 EXON Missense_T783S exm293447 3 15115478 [T/C] NM_022340 ZFYVE20 EXON Missense_M722I exm293451 3 15115637 [G/C] NM_022340 ZFYVE20 EXON Missense_E669D exm293454 3 15115660 [T/C] NM_022340 ZFYVE20 EXON Missense_N662D exm293456 3 15115677 [C/G] NM_022340 ZFYVE20 EXON Missense_R656P exm293459 3 15115723 [T/C] NM_022340 ZFYVE20 EXON Missense_T641A exm293461 3 15115872 [A/G] NM_022340 ZFYVE20 EXON Missense_L591P exm293476 3 15116197 [A/G] NM_022340 ZFYVE20 EXON Missense_R483C exm293480 3 15116209 [T/C] NM_022340 ZFYVE20 EXON Missense_M479V exm293482 3 15116218 [T/C] NM_022340 ZFYVE20 EXON Missense_A476T exm293487 3 15116371 [T/C] NM_022340 ZFYVE20 EXON Missense_G425R exm293492 3 15116437 [T/C] NM_022340 ZFYVE20 EXON Missense_A403T exm293502 3 15119634 [T/C] NM_022340 ZFYVE20 EXON Missense_S316G exm293517 3 15123978 [T/C] NM_022340 ZFYVE20 EXON Missense_D246N exm293521 3 15126283 [A/G] NM_022340 ZFYVE20 EXON Missense_M186T exm293527 3 15126509 [T/C] NM_022340 ZFYVE20 EXON Missense_R145Q exm293529 3 15127459 [T/C] NM_022340 ZFYVE20 EXON Missense_R100K exm2238812 3 15131909 [A/G] NM_022340 ZFYVE20 EXON Missense_L96F exm293535 3 15137503 [T/C] NM_022340 ZFYVE20 EXON Missense_R42H exm293538 3 15137528 [C/G] NM_022340 ZFYVE20 EXON Missense_E34Q exm293541 3 15248049 [T/G] NM_014296 CAPN7 EXON Missense_L16R exm293544 3 15248082 [C/G] NM_014296 CAPN7 EXON Missense_S27C exm293552 3 15259048 [A/G] NM_014296 CAPN7 EXON Missense_I110V exm293554 3 15259992 [A/G] NM_014296 CAPN7 EXON Missense_A128T exm2041753 3 15260008 [A/G] NM_014296 CAPN7 EXON Missense_Q133R exm293555 3 15262286 [A/G] NM_014296 CAPN7 Silent exm293556 3 15262289 [A/G] NM_014296 CAPN7 EXON Missense_A147T exm293576 3 15270563 [T/C] NM_014296 CAPN7 EXON Missense_T312I exm293578 3 15270565 [A/G] NM_014296 CAPN7 EXON Missense_G313S exm293579 3 15271950 [A/G] NM_014296 CAPN7 EXON Missense_I314V exm293581 3 15272038 [A/G] NM_014296 CAPN7 EXON Missense_R343K exm293584 3 15274077 [T/G] NM_014296 CAPN7 EXON Missense_S362A exm293587 3 15274172 [T/C] NM_014296 CAPN7 EXON Synonymous_S393S exm293625 3 15288911 [A/C] NM_014296 CAPN7 EXON Nonsense_Y717X exm293636 3 15292741 [T/C] NM_014296 CAPN7 EXON Missense_P806S exm293646 3 15297719 [A/C] NR_046084,NM_004844,NM_001018009 SH3BP5-AS1,SH3BP5,SH3BP5 EXON Silent,Missense_S414R,Missense_S257R exm293650 3 15297787 [T/C] NR_046084,NM_004844,NM_001018009 SH3BP5-AS1,SH3BP5,SH3BP5 EXON Silent,Missense_N392D,Missense_N235D exm293657 3 15298424 [G/C] NR_046084,NM_004844,NM_001018009 SH3BP5-AS1,SH3BP5,SH3BP5 EXON Silent,Missense_F362L,Missense_F205L exm293666 3 15298549 [T/C] NR_046084,NM_004844,NM_001018009 SH3BP5-AS1,SH3BP5,SH3BP5 EXON Silent,Missense_V321M,Missense_V164M exm2041807 3 15298588 [T/C] NR_046084,NM_004844,NM_001018009 SH3BP5-AS1,SH3BP5,SH3BP5 EXON Silent,Missense_S308G,Missense_S151G exm293671 3 15298590 [T/C] NR_046084,NM_004844,NM_001018009 SH3BP5-AS1,SH3BP5,SH3BP5 EXON Silent,Missense_C307Y,Missense_C150Y exm2238819 3 15300472 [A/G] NR_046084,NM_004844,NM_001018009 SH3BP5-AS1,SH3BP5,SH3BP5 EXON Silent,Missense_M252T,Missense_M95T exm293679 3 15300515 [C/G] NR_046084,NM_004844,NM_001018009 SH3BP5-AS1,SH3BP5,SH3BP5 EXON Silent,Missense_L238V,Missense_L81V exm293700 3 15311270 [A/G] NM_004844,NM_001018009 SH3BP5,SH3BP5 EXON Missense_R149W,Silent exm2255776 3 15344254 [A/G] NM_004844,NM_001018009 SH3BP5,SH3BP5 Silent,Silent exm293714 3 15373858 [T/C] NM_004844,NM_001018009 SH3BP5,SH3BP5 EXON Missense_A20T,Silent exm-rs6442522 3 15440556 [T/C] exm293750 3 15467858 [A/G] NM_152396 METTL6 EXON Missense_T54I exm293753 3 15467993 [A/G] NM_152396 METTL6 EXON Missense_L9P exm293760 3 15469383 [A/G] NM_033083 EAF1 EXON Missense_I33V exm293764 3 15471471 [T/C] NM_033083 EAF1 EXON Missense_V52A exm293780 3 15475982 [T/C] NM_033083 EAF1 EXON Missense_P155S exm293781 3 15475992 [T/C] NM_033083 EAF1 EXON Missense_S158F exm293788 3 15477987 [T/C] NM_033083 EAF1 EXON Missense_P222L exm293789 3 15478020 [T/G] NM_033083 EAF1 EXON Missense_R233M exm293790 3 15478028 [A/G] NM_033083 EAF1 EXON Missense_V236I exm293791 3 15478047 [A/G] NM_033083 EAF1 EXON Missense_R242Q exm293820 3 15497446 [C/G] NM_080539,NM_005677,NM_080538 COLQ,COLQ,COLQ EXON Missense_E351D,Missense_E385D,Missense_E375D exm293822 3 15497493 [T/C] NM_080539,NM_005677,NM_080538 COLQ,COLQ,COLQ EXON Missense_D336N,Missense_D370N,Missense_D360N exm2042030 3 15497520 [A/G] NM_080539,NM_005677,NM_080538 COLQ,COLQ,COLQ EXON Missense_P327S,Missense_P361S,Missense_P351S exm293832 3 15498023 [A/G] NM_080539,NM_005677,NM_080538 COLQ,COLQ,COLQ EXON Missense_R306C,Missense_R340C,Missense_R330C exm293836 3 15499713 [T/C] NM_080539,NM_005677,NM_080538 COLQ,COLQ,COLQ EXON Missense_S278G,Missense_S312G,Missense_S302G exm293845 3 15507874 [A/G] NM_080539,NM_005677,NM_080538 COLQ,COLQ,COLQ EXON Missense_P229L,Missense_P263L,Missense_P253L exm293846 3 15507925 [C/G] NM_080539,NM_005677,NM_080538 COLQ,COLQ,COLQ EXON Missense_G212A,Missense_G246A,Missense_G236A exm293877 3 15520486 [T/C] NM_080539,NM_005677,NM_080538 COLQ,COLQ,COLQ EXON Missense_K97E,Missense_K131E,Missense_K121E exm2269407 3 15547970 [T/C] NM_080539,NM_005677 COLQ,COLQ Silent,Silent exm293916 3 15604875 [T/C] NM_012260 HACL1 EXON Missense_R565Q exm293922 3 15605014 [T/C] NM_012260 HACL1 EXON Missense_E519K exm293929 3 15609385 [G/C] NM_012260 HACL1 EXON Missense_G459R exm293934 3 15609448 [A/C] NM_012260 HACL1 EXON Missense_V438L exm293935 3 15609490 [T/C] NM_012260 HACL1 EXON Missense_G424R exm2276785 3 15609509 [C/G] NM_012260 HACL1 EXON Missense_R417S exm293940 3 15609973 [A/G] NM_012260 HACL1 EXON Missense_R406W exm293945 3 15610066 [T/C] NM_012260 HACL1 EXON Missense_M375V exm293955 3 15614707 [T/C] NM_012260 HACL1 EXON Missense_A318T exm-rs7648958 3 15621143 [A/G] NM_012260 HACL1 Silent exm293966 3 15624390 [T/C] NM_012260 HACL1 EXON Missense_G221R exm293967 3 15624419 [T/C] NM_012260 HACL1 EXON Missense_R211K exm293973 3 15624498 [T/C] NM_012260 HACL1 Silent exm293977 3 15628040 [T/A] NM_012260 HACL1 EXON Missense_I151F exm293980 3 15628064 [T/C] NM_012260 HACL1 EXON Missense_S143G exm293990 3 15637903 [T/A] NM_012260 HACL1 EXON Missense_Y72F exm293997 3 15642601 [A/T] NM_012260 HACL1 EXON Missense_Q61L exm294003 3 15642910 [T/C] NM_012260 HACL1 EXON Missense_A21T exm-rs7651039 3 15648004 [T/C] NM_000060 BTD Silent exm294023 3 15676984 [T/G] NM_000060 BTD EXON Missense_C33F exm294029 3 15677014 [A/G] NM_000060 BTD EXON Missense_H43R exm294030 3 15677019 [A/G] NM_000060 BTD EXON Missense_G45R exm294032 3 15677088 [A/G] NM_000060 BTD EXON Missense_I68V exm2255789 3 15677147 [T/C] NM_000060 BTD EXON Synonymous_N87N exm294033 3 15677147 [T/C] NM_000060 BTD EXON Synonymous_N87N exm294034 3 15677148 [G/C] NM_000060 BTD EXON Missense_Q88E exm294040 3 15683547 [T/C] NM_000060 BTD EXON Missense_R148C exm294045 3 15685833 [A/G] NM_000060 BTD EXON Missense_R157H exm294049 3 15685874 [A/G] NM_000060 BTD EXON Missense_A171T exm2238846 3 15685989 [A/G] NM_000060 BTD EXON Missense_R209H exm294057 3 15686027 [A/G] NM_000060 BTD EXON Missense_D222N exm294066 3 15686243 [A/G] NM_000060 BTD EXON Missense_I294V exm2255791 3 15686248 [T/C] NM_000060 BTD EXON Synonymous_N295N exm2042296 3 15686249 [A/G] NM_000060 BTD EXON Missense_V296I exm2042297 3 15686270 [T/C] NM_000060 BTD EXON Missense_H303Y exm294071 3 15686391 [T/G] NM_000060 BTD EXON Missense_G343V exm294080 3 15686534 [T/C] NM_000060 BTD EXON Missense_P391S exm294082 3 15686568 [A/G] NM_000060 BTD EXON Missense_N402S exm294087 3 15686693 [C/G] NM_000060 BTD EXON Missense_D444H exm294089 3 15686731 [A/C] NM_000060 BTD EXON Missense_Q456H exm294095 3 15686799 [T/C] NM_000060 BTD EXON Missense_T479M exm294100 3 15686958 [T/C] NM_000060 BTD EXON Missense_T532M exm294113 3 15717462 [T/C] NM_001195099,NM_015199,NM_001195098 ANKRD28,ANKRD28,ANKRD28 EXON Missense_M786V,Missense_M940V,Missense_M786V exm294114 3 15718494 [T/C] NM_001195099,NM_015199,NM_001195098 ANKRD28,ANKRD28,ANKRD28 EXON Missense_A770T,Missense_A924T,Missense_A770T exm2042372 3 15718505 [T/C] NM_001195099,NM_015199,NM_001195098 ANKRD28,ANKRD28,ANKRD28 EXON Missense_N766S,Missense_N920S,Missense_N766S exm294119 3 15719049 [T/C] NM_001195099,NM_015199,NM_001195098 ANKRD28,ANKRD28,ANKRD28 EXON Missense_S726G,Missense_S880G,Missense_S726G exm294128 3 15721019 [A/G] NM_001195099,NM_015199,NM_001195098 ANKRD28,ANKRD28,ANKRD28 EXON Missense_T630M,Missense_T784M,Missense_T630M exm294129 3 15721056 [T/C] NM_001195099,NM_015199,NM_001195098 ANKRD28,ANKRD28,ANKRD28 EXON Missense_V618I,Missense_V772I,Missense_V618I exm2238852 3 15726823 [T/C] NM_001195099,NM_015199,NM_001195098 ANKRD28,ANKRD28,ANKRD28 EXON Missense_A583T,Missense_A737T,Missense_A583T exm294133 3 15726889 [A/G] NM_001195099,NM_015199,NM_001195098 ANKRD28,ANKRD28,ANKRD28 EXON Missense_R561W,Missense_R715W,Missense_R561W exm294136 3 15727774 [T/C] NM_001195099,NM_015199,NM_001195098 ANKRD28,ANKRD28,ANKRD28 EXON Missense_N485S,Missense_N639S,Missense_N485S exm294142 3 15731571 [A/C] NM_001195099,NM_015199,NM_001195098 ANKRD28,ANKRD28,ANKRD28 EXON Missense_L456V,Missense_L610V,Missense_L456V exm2042411 3 15731667 [G/C] NM_001195099,NM_015199,NM_001195098 ANKRD28,ANKRD28,ANKRD28 EXON Missense_V424L,Missense_V578L,Missense_V424L exm294150 3 15737669 [A/G] NM_001195099,NM_015199,NM_001195098 ANKRD28,ANKRD28,ANKRD28 EXON Missense_A360V,Missense_A514V,Missense_A360V exm294172 3 15755098 [T/C] NM_001195099,NM_015199,NM_001195098 ANKRD28,ANKRD28,ANKRD28 EXON Missense_A192T,Missense_A346T,Missense_A192T exm294182 3 15762552 [A/G] NM_001195099,NM_015199,NM_001195098 ANKRD28,ANKRD28,ANKRD28 EXON Missense_I105T,Missense_I259T,Missense_I105T exm294186 3 15765941 [A/G] NM_001195099,NM_015199,NM_001195098 ANKRD28,ANKRD28,ANKRD28 EXON Missense_A60V,Missense_A214V,Missense_A60V exm294194 3 15778544 [A/C] NM_001195099,NM_015199,NM_001195098 ANKRD28,ANKRD28,ANKRD28 EXON Silent,Missense_G153V,Silent exm294223 3 16216861 [T/G] NM_054110 GALNT15 EXON Missense_V68G exm294230 3 16216962 [T/C] NM_054110 GALNT15 EXON Missense_P102S exm294231 3 16217011 [A/G] NM_054110 GALNT15 EXON Missense_R118H exm2238887 3 16217079 [A/G] NM_054110 GALNT15 EXON Missense_G141R exm294238 3 16217110 [T/C] NM_054110 GALNT15 EXON Missense_P151L exm2269605 3 16237372 [T/C] NM_054110 GALNT15 EXON Synonymous_L215L exm294257 3 16242126 [A/G] NM_054110 GALNT15 EXON Missense_G236E exm2269408 3 16244959 [T/C] NM_054110 GALNT15 Silent exm294271 3 16250068 [C/G] NM_054110 GALNT15 EXON Missense_P324A exm2042968 3 16254129 [A/C] NM_054110 GALNT15 EXON Missense_H417Q exm294291 3 16254172 [A/G] NM_054110 GALNT15 EXON Missense_A432T exm294295 3 16254271 [T/G] NM_054110 GALNT15 Silent exm294301 3 16261420 [T/C] NM_054110 GALNT15 EXON Missense_H510Y exm294306 3 16264121 [A/G] NM_054110 GALNT15 Silent exm294308 3 16264233 [T/G] NM_054110 GALNT15 EXON Missense_A581S exm294313 3 16268940 [A/G] NM_054110 GALNT15 EXON Missense_R618H exm294343 3 16312496 [T/C] NM_138381 OXNAD1 EXON Missense_R13W exm294344 3 16312497 [A/G] NM_138381 OXNAD1 EXON Missense_R13Q exm294345 3 16312530 [T/C] NM_138381 OXNAD1 EXON Missense_A24V exm294352 3 16313222 [A/G] NM_138381 OXNAD1 EXON Missense_R59Q exm294357 3 16327849 [A/G] NM_138381 OXNAD1 EXON Missense_I62V exm294358 3 16327855 [T/G] NM_138381 OXNAD1 EXON Missense_S64A exm294364 3 16327909 [T/C] NM_138381 OXNAD1 EXON Missense_R82C exm294369 3 16336364 [A/G] NM_138381 OXNAD1 EXON Missense_V98I exm294371 3 16336503 [T/C] NM_138381 OXNAD1 EXON Missense_T144M exm294387 3 16343334 [C/G] NM_138381 OXNAD1 EXON Missense_L212V exm294394 3 16344229 [A/G] NM_138381 OXNAD1 EXON Missense_N253S exm2043003 3 16344253 [T/C] NM_138381 OXNAD1 EXON Missense_T261M exm294399 3 16344974 [A/C] NM_138381 OXNAD1 EXON Missense_I282L exm294402 3 16358342 [T/C] NM_015150 RFTN1 EXON Missense_E577G exm294409 3 16358552 [T/C] NM_015150 RFTN1 EXON Missense_E507G exm294414 3 16358601 [T/C] NM_015150 RFTN1 EXON Missense_M491V exm294415 3 16358615 [T/G] NM_015150 RFTN1 EXON Missense_S486Y exm294416 3 16358653 [T/G] NM_015150 RFTN1 EXON Missense_Q473H exm2043008 3 16358693 [A/C] NM_015150 RFTN1 EXON Missense_R460M exm294421 3 16364898 [G/C] NM_015150 RFTN1 EXON Missense_K439N exm294423 3 16364954 [T/C] NM_015150 RFTN1 EXON Missense_V421I exm294425 3 16364964 [A/G] NM_015150 RFTN1 EXON Synonymous_S417S exm-rs690037 3 16395668 [T/C] NM_015150 RFTN1 Silent exm-rs12635698 3 16408489 [T/C] NM_015150 RFTN1 Silent exm294446 3 16411695 [A/C] NM_015150 RFTN1 EXON Missense_K306N exm2255812 3 16411731 [T/C] NM_015150 RFTN1 EXON Synonymous_Q294Q exm294448 3 16411736 [A/G] NM_015150 RFTN1 EXON Missense_R293W exm294459 3 16419309 [T/C] NM_015150 RFTN1 EXON Missense_E248K exm294461 3 16419351 [T/C] NM_015150 RFTN1 EXON Missense_A234T exm294467 3 16419377 [A/G] NM_015150 RFTN1 EXON Missense_S225L exm294478 3 16419539 [A/G] NM_015150 RFTN1 EXON Missense_S171L exm294480 3 16419576 [T/C] NM_015150 RFTN1 EXON Missense_V159I exm294485 3 16450919 [A/G] NM_015150 RFTN1 EXON Missense_P135L exm294486 3 16450927 [T/G] NM_015150 RFTN1 EXON Missense_L132F exm2265423 3 16454480 [A/G] NM_015150 RFTN1 Silent exm2238905 3 16636054 [A/G] NM_001190811,NM_001351 DAZL,DAZL EXON Missense_Y223H,Missense_Y203H exm294531 3 16638303 [T/C] NM_001190811,NM_001351 DAZL,DAZL EXON Missense_Y171C,Missense_Y151C exm294534 3 16638352 [A/G] NM_001190811,NM_001351 DAZL,DAZL EXON Missense_P155S,Missense_P135S exm294535 3 16638360 [T/C] NM_001190811,NM_001351 DAZL,DAZL EXON Missense_N152S,Missense_N132S exm294540 3 16639023 [G/C] NM_001190811,NM_001351 DAZL,DAZL EXON Missense_D110H,Missense_D90H exm294545 3 16640068 [G/C] NM_001190811,NM_001351 DAZL,DAZL EXON Missense_S34C,Missense_S14C exm294547 3 16645993 [T/C] NM_001190811,NM_001351 DAZL,DAZL EXON Missense_C6Y,Silent exm294561 3 16926648 [T/G] NM_001144382 PLCL2 EXON Missense_C33W exm294562 3 16926666 [T/G] NM_001144382 PLCL2 EXON Synonymous_R39R exm294563 3 16926699 [T/G] NM_001144382 PLCL2 EXON Synonymous_G50G exm-rs1372072 3 16955259 [A/G] NM_001144382 PLCL2 Silent exm294567 3 17051292 [A/G] NM_001144382,NM_015184 PLCL2,PLCL2 EXON Missense_G148D,Missense_V26I exm294573 3 17051450 [A/C] NM_001144382,NM_015184 PLCL2,PLCL2 EXON Missense_Q201K,Synonymous_R78R exm294580 3 17051698 [T/C] NM_001144382,NM_015184 PLCL2,PLCL2 EXON Synonymous_Y283Y,Missense_I161T exm2273895 3 17052089 [T/C] NM_001144382,NM_015184 PLCL2,PLCL2 EXON Nonsense_R414X,Synonymous_F291F exm2273896 3 17052311 [G/C] NM_001144382,NM_015184 PLCL2,PLCL2 EXON Missense_L488V,Synonymous_T365T exm294594 3 17052482 [T/C] NM_001144382,NM_015184 PLCL2,PLCL2 EXON Nonsense_Q545X,Synonymous_P422P exm294604 3 17053001 [T/C] NM_001144382,NM_015184 PLCL2,PLCL2 EXON Missense_R718W,Synonymous_N595N exm294606 3 17053156 [T/G] NM_001144382,NM_015184 PLCL2,PLCL2 EXON Missense_R769S,Missense_G647V exm294619 3 17053499 [A/G] NM_001144382,NM_015184 PLCL2,PLCL2 EXON Missense_K884E,Synonymous_G761G exm294625 3 17053613 [T/C] NM_001144382,NM_015184 PLCL2,PLCL2 EXON Missense_P922S,Synonymous_P799P exm294627 3 17056203 [T/G] NM_001144382,NM_015184 PLCL2,PLCL2 EXON Missense_C936F,Missense_A814S exm294630 3 17056271 [A/G] NM_001144382,NM_015184 PLCL2,PLCL2 EXON Missense_G959S,Synonymous_A836A exm294631 3 17056278 [T/C] NM_001144382,NM_015184 PLCL2,PLCL2 EXON Missense_S961F,Missense_P839S exm294633 3 17056301 [T/C] NM_001144382,NM_015184 PLCL2,PLCL2 EXON Missense_H969Y,Synonymous_N846N exm-rs17272796 3 17077268 [T/C] NM_001144382,NM_015184 PLCL2,PLCL2 Silent,Silent exm294643 3 17131373 [A/C] NM_001144382,NM_015184 PLCL2,PLCL2 EXON Synonymous_T1114T,Missense_P992H exm294644 3 17131374 [T/C] NM_001144382,NM_015184 PLCL2,PLCL2 EXON Nonsense_R1115X,Synonymous_P992P exm294647 3 17131402 [T/G] NM_001144382,NM_015184 PLCL2,PLCL2 EXON Missense_M1124R,Missense_X1002G exm2269606 3 17157586 [T/C] exm2263981 3 17193348 [A/C] exm294661 3 17202637 [T/G] NM_014744,NM_001134380,NM_001134381 TBC1D5,TBC1D5,TBC1D5 EXON Missense_Q736K,Missense_Q736K,Missense_Q758K exm294662 3 17202646 [T/C] NM_014744,NM_001134380,NM_001134381 TBC1D5,TBC1D5,TBC1D5 EXON Missense_G733S,Missense_G733S,Missense_G755S exm294664 3 17202649 [T/A] NM_014744,NM_001134380,NM_001134381 TBC1D5,TBC1D5,TBC1D5 EXON Missense_S732T,Missense_S732T,Missense_S754T exm294670 3 17208267 [T/C] NM_014744,NM_001134380,NM_001134381 TBC1D5,TBC1D5,TBC1D5 EXON Missense_I696V,Missense_I696V,Missense_I718V exm294676 3 17208341 [T/G] NM_014744,NM_001134380,NM_001134381 TBC1D5,TBC1D5,TBC1D5 EXON Missense_A671E,Missense_A671E,Missense_A693E exm294677 3 17208352 [C/G] NM_014744,NM_001134380,NM_001134381 TBC1D5,TBC1D5,TBC1D5 EXON Missense_Q667H,Missense_Q667H,Missense_Q689H exm294680 3 17209300 [A/C] NM_014744,NM_001134380,NM_001134381 TBC1D5,TBC1D5,TBC1D5 EXON Missense_L625V,Missense_L625V,Missense_L647V exm294682 3 17226601 [G/C] NM_014744,NM_001134380,NM_001134381 TBC1D5,TBC1D5,TBC1D5 EXON Missense_V618L,Missense_V618L,Missense_V640L exm294694 3 17255827 [T/C] NM_014744,NM_001134380,NM_001134381 TBC1D5,TBC1D5,TBC1D5 EXON Missense_V542I,Missense_V542I,Missense_V564I exm294699 3 17275221 [T/C] NM_014744,NM_001134380,NM_001134381 TBC1D5,TBC1D5,TBC1D5 EXON Silent,Silent,Missense_D537G exm294706 3 17300064 [A/G] NM_014744,NM_001134380,NM_001134381 TBC1D5,TBC1D5,TBC1D5 EXON Missense_T422I,Missense_T422I,Missense_T422I exm294713 3 17349483 [C/G] NM_014744,NM_001134380,NM_001134381 TBC1D5,TBC1D5,TBC1D5 Silent,Silent,Silent exm294714 3 17349498 [T/C] NM_014744,NM_001134380,NM_001134381 TBC1D5,TBC1D5,TBC1D5 EXON Missense_Y375C,Missense_Y375C,Missense_Y375C exm294731 3 17415967 [T/C] NM_014744,NM_001134380,NM_001134381 TBC1D5,TBC1D5,TBC1D5 EXON Missense_Q273R,Missense_Q273R,Missense_Q273R exm294737 3 17446443 [T/C] NM_014744,NM_001134380,NM_001134381 TBC1D5,TBC1D5,TBC1D5 EXON Missense_C96Y,Missense_C96Y,Missense_C96Y exm294738 3 17446447 [A/G] NM_014744,NM_001134380,NM_001134381 TBC1D5,TBC1D5,TBC1D5 EXON Missense_L95F,Missense_L95F,Missense_L95F exm294742 3 17469978 [A/G] NM_014744,NM_001134380,NM_001134381 TBC1D5,TBC1D5,TBC1D5 EXON Missense_S44F,Missense_S44F,Missense_S44F exm-rs17043638 3 17486643 [T/C] NM_014744,NM_001134380,NM_001134381 TBC1D5,TBC1D5,TBC1D5 Silent,Silent,Silent exm2269409 3 17877828 [T/G] exm2265565 3 18142767 [A/G] NM_001257177 LOC339862 Silent exm2265424 3 18302624 [A/G] NM_001257177 LOC339862 Silent exm294751 3 18390700 [T/C] NM_002971,NM_001131010,NM_001195470 SATB1,SATB1,SATB1 EXON Missense_E752K,Missense_E752K,Missense_E784K exm294775 3 18393546 [T/C] NM_002971,NM_001131010,NM_001195470 SATB1,SATB1,SATB1 EXON Missense_A573T,Missense_A573T,Missense_A573T exm294787 3 18436063 [A/G] NM_002971,NM_001131010,NM_001195470 SATB1,SATB1,SATB1 EXON Missense_S366L,Missense_S366L,Missense_S366L exm294792 3 18436286 [T/C] NM_002971,NM_001131010,NM_001195470 SATB1,SATB1,SATB1 EXON Missense_S292G,Missense_S292G,Missense_S292G exm2269410 3 18634962 [T/G] exm-rs13073817 3 18706858 [A/G] exm-rs6809854 3 18784423 [A/G] exm2269607 3 19230451 [T/G] NM_144633 KCNH8 Silent exm2265425 3 19339747 [A/G] NM_144633 KCNH8 Silent exm-rs2053506 3 19375791 [A/G] NM_144633 KCNH8 Silent exm294836 3 19384135 [A/G] NM_144633 KCNH8 EXON Missense_S167G exm294837 3 19384171 [A/C] NM_144633 KCNH8 EXON Missense_Q179K exm294869 3 19479731 [A/G] NM_144633 KCNH8 EXON Missense_R418Q exm294876 3 19491636 [A/G] NM_144633 KCNH8 EXON Missense_I472V exm294890 3 19498358 [A/G] NM_144633 KCNH8 EXON Missense_I642V exm294896 3 19554508 [T/C] NM_144633 KCNH8 EXON Missense_I709T exm294917 3 19559510 [G/C] NM_144633 KCNH8 EXON Missense_V855L exm294922 3 19574945 [A/G] NM_144633 KCNH8 EXON Missense_Q893R exm294924 3 19574957 [A/C] NM_144633 KCNH8 EXON Missense_N897T exm294925 3 19574959 [A/G] NM_144633 KCNH8 EXON Missense_V898I exm294935 3 19575181 [T/C] NM_144633 KCNH8 EXON Nonsense_R972X exm294938 3 19575217 [G/C] NM_144633 KCNH8 EXON Missense_E984Q exm294939 3 19575232 [T/C] NM_144633 KCNH8 EXON Missense_P989S exm2047857 3 19575323 [T/C] NM_144633 KCNH8 EXON Missense_T1019M exm2239295 3 19575329 [T/C] NM_144633 KCNH8 EXON Missense_T1021M exm294945 3 19575434 [A/G] NM_144633 KCNH8 EXON Missense_S1056N exm2265566 3 19813225 [A/G] exm294949 3 19921149 [A/G] NM_144715 EFHB EXON Missense_R826W exm2255940 3 19921153 [T/C] NM_144715 EFHB EXON Synonymous_A824A exm294950 3 19921153 [T/C] NM_144715 EFHB EXON Synonymous_A824A exm294954 3 19924058 [A/G] NM_144715 EFHB EXON Missense_T771I exm294957 3 19924091 [T/C] NM_144715 EFHB EXON Missense_R760Q exm294962 3 19924172 [T/C] NM_144715 EFHB EXON Missense_R733Q exm2048544 3 19925950 [T/G] NM_144715 EFHB EXON Nonsense_Y697X exm294973 3 19926053 [T/G] NM_144715 EFHB EXON Missense_Q663P exm294983 3 19930130 [T/A] NM_144715 EFHB EXON Missense_M580K exm294987 3 19938235 [T/G] NM_144715 EFHB EXON Missense_K557Q exm294991 3 19938255 [T/G] NM_144715 EFHB EXON Missense_A550E exm294996 3 19938285 [T/C] NM_144715 EFHB EXON Missense_G540D exm294998 3 19938304 [A/G] NM_144715 EFHB EXON Missense_P534S exm295001 3 19938327 [T/C] NM_144715 EFHB EXON Missense_G526D exm295003 3 19940315 [G/C] NM_144715 EFHB EXON Missense_P509A exm295004 3 19940924 [A/G] NM_144715 EFHB EXON Missense_P501L exm295024 3 19959819 [T/C] NM_144715 EFHB EXON Missense_R361Q exm295026 3 19959864 [T/C] NM_144715 EFHB EXON Missense_Q346R exm295029 3 19961330 [T/C] NM_144715 EFHB EXON Missense_V331I exm295038 3 19961395 [T/C] NM_144715 EFHB EXON Missense_Y309C exm295046 3 19962044 [A/G] NM_144715 EFHB EXON Missense_P269S exm295047 3 19974739 [T/C] NM_144715 EFHB EXON Missense_T258A exm2048568 3 19974891 [A/T] NM_144715 EFHB EXON Missense_N207I exm295055 3 19975008 [A/C] NM_144715 EFHB EXON Missense_R168I exm295061 3 19975194 [A/G] NM_144715 EFHB EXON Missense_P106L exm295063 3 19975215 [A/C] NM_144715 EFHB EXON Missense_G99V exm2273897 3 19975234 [T/C] NM_144715 EFHB EXON Missense_S93G exm295071 3 19975497 [A/G] NM_144715 EFHB EXON Missense_I5T exm2265426 3 19975582 [A/G] NM_144715 EFHB EXON Silent exm295093 3 20017598 [G/C] NM_004162 RAB5A EXON Missense_N125K exm2255941 3 20109901 [T/G] NM_003884 KAT2B Silent exm295121 3 20113883 [G/C] NM_003884 KAT2B EXON Missense_P121R exm295125 3 20136890 [A/G] NM_003884 KAT2B EXON Missense_Y189C exm295129 3 20141369 [A/G] NM_003884 KAT2B EXON Missense_I198V exm295136 3 20142872 [A/C] NM_003884 KAT2B EXON Missense_I255L exm295145 3 20153252 [A/G] NM_003884 KAT2B EXON Missense_R339Q exm295148 3 20156426 [G/C] NM_003884 KAT2B EXON Missense_D366H exm295150 3 20161092 [A/G] NM_003884 KAT2B EXON Missense_I385V exm295151 3 20161096 [A/G] NM_003884 KAT2B EXON Missense_N386S exm295157 3 20164175 [T/C] NM_003884 KAT2B EXON Missense_M431T exm2048597 3 20164184 [C/G] NM_003884 KAT2B EXON Missense_S434C exm295161 3 20164282 [A/G] NM_003884 KAT2B EXON Missense_M467V exm295168 3 20167605 [T/C] NM_003884 KAT2B EXON Missense_P541L exm295176 3 20181809 [T/C] NM_003884 KAT2B EXON Missense_R653W exm295187 3 20189472 [A/C] NM_003884 KAT2B EXON Missense_P713T exm295199 3 20193983 [A/G] NM_003884 KAT2B EXON Missense_S822N exm295201 3 20202616 [A/G] NM_001199252,NM_001199257,NM_138484,NM_001199254,NM_001012410,NM_001012412,NM_001199256 SGOL1,SGOL1,SGOL1,SGOL1,SGOL1,SGOL1,SGOL1 EXON Missense_T556I,Missense_T210I,Missense_T287I,Missense_T304I,Missense_T556I,Missense_T304I,Missense_T287I exm295204 3 20202646 [A/G] NM_001199252,NM_001199257,NM_138484,NM_001199254,NM_001012410,NM_001012412,NM_001199256 SGOL1,SGOL1,SGOL1,SGOL1,SGOL1,SGOL1,SGOL1 EXON Missense_F546S,Missense_F200S,Missense_F277S,Missense_F294S,Missense_F546S,Missense_F294S,Missense_F277S exm2255942 3 20202651 [T/C] NM_001199252,NM_001199257,NM_138484,NM_001199254,NM_001012410,NM_001012412,NM_001199256 SGOL1,SGOL1,SGOL1,SGOL1,SGOL1,SGOL1,SGOL1 EXON Synonymous_S544S,Synonymous_S198S,Synonymous_S275S,Synonymous_S292S,Synonymous_S544S,Synonymous_S292S,Synonymous_S275S exm295205 3 20202651 [T/C] NM_001199252,NM_001199257,NM_138484,NM_001199254,NM_001012410,NM_001012412,NM_001199256 SGOL1,SGOL1,SGOL1,SGOL1,SGOL1,SGOL1,SGOL1 EXON Synonymous_S544S,Synonymous_S198S,Synonymous_S275S,Synonymous_S292S,Synonymous_S544S,Synonymous_S292S,Synonymous_S275S exm295210 3 20202715 [A/G] NM_001199252,NM_001199257,NM_138484,NM_001199254,NM_001012410,NM_001012412,NM_001199256 SGOL1,SGOL1,SGOL1,SGOL1,SGOL1,SGOL1,SGOL1 EXON Missense_A523V,Missense_A177V,Missense_A254V,Missense_A271V,Missense_A523V,Missense_A271V,Missense_A254V exm295214 3 20212227 [T/C] NM_001199252,NM_001199257,NM_138484,NM_001199254,NM_001012410,NM_001012412,NM_001199256,NM_001199253,NM_001012413,NM_001012409,NM_001199255,NM_001012411,NM_001199251 SGOL1,SGOL1,SGOL1,SGOL1,SGOL1,SGOL1,SGOL1,SGOL1,SGOL1,SGOL1,SGOL1,SGOL1,SGOL1 EXON Missense_R518H,Silent,Missense_R249H,Missense_R266H,Missense_R518H,Missense_R266H,Missense_R249H,Missense_R266H,Missense_R249H,Missense_R518H,Missense_R249H,Missense_R266H,Missense_R518H exm295223 3 20212652 [A/G] NM_001199252,NM_001199257,NM_138484,NM_001199254,NM_001012410,NM_001012412,NM_001199256,NM_001199253,NM_001012413,NM_001012409,NM_001199255,NM_001012411,NM_001199251 SGOL1,SGOL1,SGOL1,SGOL1,SGOL1,SGOL1,SGOL1,SGOL1,SGOL1,SGOL1,SGOL1,SGOL1,SGOL1 EXON Missense_V452A,Silent,Missense_V183A,Missense_V200A,Missense_V452A,Missense_V200A,Missense_V183A,Missense_V200A,Missense_V183A,Missense_V452A,Missense_V183A,Missense_V200A,Missense_V452A exm295236 3 20215845 [G/C] NM_001199252,NM_001199257,NM_138484,NM_001199254,NM_001012410,NM_001012412,NM_001199256,NM_001199253,NM_001012413,NM_001012409,NM_001199255,NM_001012411,NM_001199251,NR_046723 SGOL1,SGOL1,SGOL1,SGOL1,SGOL1,SGOL1,SGOL1,SGOL1,SGOL1,SGOL1,SGOL1,SGOL1,SGOL1,SGOL1-AS1 EXON Missense_T393R,Silent,Silent,Silent,Missense_T393R,Silent,Silent,Silent,Silent,Missense_T393R,Silent,Silent,Missense_T393R,Silent exm295248 3 20216058 [T/G] NM_001199252,NM_001199257,NM_138484,NM_001199254,NM_001012410,NM_001012412,NM_001199256,NM_001199253,NM_001012413,NM_001012409,NM_001199255,NM_001012411,NM_001199251,NR_046723 SGOL1,SGOL1,SGOL1,SGOL1,SGOL1,SGOL1,SGOL1,SGOL1,SGOL1,SGOL1,SGOL1,SGOL1,SGOL1,SGOL1-AS1 EXON Missense_Q322P,Silent,Silent,Silent,Missense_Q322P,Silent,Silent,Silent,Silent,Missense_Q322P,Silent,Silent,Missense_Q322P,Silent exm295249 3 20216062 [A/G] NM_001199252,NM_001199257,NM_138484,NM_001199254,NM_001012410,NM_001012412,NM_001199256,NM_001199253,NM_001012413,NM_001012409,NM_001199255,NM_001012411,NM_001199251,NR_046723 SGOL1,SGOL1,SGOL1,SGOL1,SGOL1,SGOL1,SGOL1,SGOL1,SGOL1,SGOL1,SGOL1,SGOL1,SGOL1,SGOL1-AS1 EXON Missense_P321S,Silent,Silent,Silent,Missense_P321S,Silent,Silent,Silent,Silent,Missense_P321S,Silent,Silent,Missense_P321S,Silent exm295255 3 20216097 [T/C] NM_001199252,NM_001199257,NM_138484,NM_001199254,NM_001012410,NM_001012412,NM_001199256,NM_001199253,NM_001012413,NM_001012409,NM_001199255,NM_001012411,NM_001199251,NR_046723 SGOL1,SGOL1,SGOL1,SGOL1,SGOL1,SGOL1,SGOL1,SGOL1,SGOL1,SGOL1,SGOL1,SGOL1,SGOL1,SGOL1-AS1 EXON Missense_Y309C,Silent,Silent,Silent,Missense_Y309C,Silent,Silent,Silent,Silent,Missense_Y309C,Silent,Silent,Missense_Y309C,Silent exm295259 3 20216232 [A/G] NM_001199252,NM_001199257,NM_138484,NM_001199254,NM_001012410,NM_001012412,NM_001199256,NM_001199253,NM_001012413,NM_001012409,NM_001199255,NM_001012411,NM_001199251,NR_046723 SGOL1,SGOL1,SGOL1,SGOL1,SGOL1,SGOL1,SGOL1,SGOL1,SGOL1,SGOL1,SGOL1,SGOL1,SGOL1,SGOL1-AS1 EXON Missense_T264M,Silent,Silent,Silent,Missense_T264M,Silent,Silent,Silent,Silent,Missense_T264M,Silent,Silent,Missense_T264M,Silent exm295265 3 20216374 [A/C] NM_001199252,NM_001199257,NM_138484,NM_001199254,NM_001012410,NM_001012412,NM_001199256,NM_001199253,NM_001012413,NM_001012409,NM_001199255,NM_001012411,NM_001199251,NR_046723 SGOL1,SGOL1,SGOL1,SGOL1,SGOL1,SGOL1,SGOL1,SGOL1,SGOL1,SGOL1,SGOL1,SGOL1,SGOL1,SGOL1-AS1 EXON Missense_A217S,Silent,Silent,Silent,Missense_A217S,Silent,Silent,Silent,Silent,Missense_A217S,Silent,Silent,Missense_A217S,Silent exm295268 3 20216413 [A/G] NM_001199252,NM_001199257,NM_138484,NM_001199254,NM_001012410,NM_001012412,NM_001199256,NM_001199253,NM_001012413,NM_001012409,NM_001199255,NM_001012411,NM_001199251,NR_046723 SGOL1,SGOL1,SGOL1,SGOL1,SGOL1,SGOL1,SGOL1,SGOL1,SGOL1,SGOL1,SGOL1,SGOL1,SGOL1,SGOL1-AS1 EXON Nonsense_Q204X,Silent,Silent,Silent,Nonsense_Q204X,Silent,Silent,Silent,Silent,Nonsense_Q204X,Silent,Silent,Nonsense_Q204X,Silent exm295269 3 20216443 [T/C] NM_001199252,NM_001199257,NM_138484,NM_001199254,NM_001012410,NM_001012412,NM_001199256,NM_001199253,NM_001012413,NM_001012409,NM_001199255,NM_001012411,NM_001199251,NR_046723 SGOL1,SGOL1,SGOL1,SGOL1,SGOL1,SGOL1,SGOL1,SGOL1,SGOL1,SGOL1,SGOL1,SGOL1,SGOL1,SGOL1-AS1 EXON Missense_S194G,Silent,Silent,Silent,Missense_S194G,Silent,Silent,Silent,Silent,Missense_S194G,Silent,Silent,Missense_S194G,Silent exm295270 3 20216484 [A/G] NM_001199252,NM_001199257,NM_138484,NM_001199254,NM_001012410,NM_001012412,NM_001199256,NM_001199253,NM_001012413,NM_001012409,NM_001199255,NM_001012411,NM_001199251,NR_046723 SGOL1,SGOL1,SGOL1,SGOL1,SGOL1,SGOL1,SGOL1,SGOL1,SGOL1,SGOL1,SGOL1,SGOL1,SGOL1,SGOL1-AS1 EXON Missense_S180F,Silent,Silent,Silent,Missense_S180F,Silent,Silent,Silent,Silent,Missense_S180F,Silent,Silent,Missense_S180F,Silent exm295271 3 20216511 [A/G] NM_001199252,NM_001199257,NM_138484,NM_001199254,NM_001012410,NM_001012412,NM_001199256,NM_001199253,NM_001012413,NM_001012409,NM_001199255,NM_001012411,NM_001199251,NR_046723 SGOL1,SGOL1,SGOL1,SGOL1,SGOL1,SGOL1,SGOL1,SGOL1,SGOL1,SGOL1,SGOL1,SGOL1,SGOL1,SGOL1-AS1 EXON Missense_V171A,Missense_V171A,Silent,Missense_V171A,Missense_V171A,Missense_V171A,Silent,Missense_V171A,Silent,Missense_V171A,Silent,Missense_V171A,Missense_V171A,Silent exm2048639 3 20219814 [A/G] NM_001199252,NM_001199257,NM_138484,NM_001199254,NM_001012410,NM_001012412,NM_001199256,NM_001199253,NM_001012413,NM_001012409,NM_001199255,NM_001012411,NM_001199251,NR_046723 SGOL1,SGOL1,SGOL1,SGOL1,SGOL1,SGOL1,SGOL1,SGOL1,SGOL1,SGOL1,SGOL1,SGOL1,SGOL1,SGOL1-AS1 EXON Missense_M122T,Missense_M122T,Missense_M122T,Missense_M122T,Missense_M122T,Missense_M122T,Missense_M122T,Missense_M122T,Missense_M122T,Missense_M122T,Missense_M122T,Missense_M122T,Missense_M122T,Silent exm2048643 3 20225197 [A/G] NM_001199252,NM_001199257,NM_138484,NM_001199254,NM_001012410,NM_001012412,NM_001199256,NM_001199253,NM_001012413,NM_001012409,NM_001199255,NM_001012411,NM_001199251,NR_046723 SGOL1,SGOL1,SGOL1,SGOL1,SGOL1,SGOL1,SGOL1,SGOL1,SGOL1,SGOL1,SGOL1,SGOL1,SGOL1,SGOL1-AS1 EXON Missense_I81T,Missense_I81T,Missense_I81T,Missense_I81T,Missense_I81T,Missense_I81T,Missense_I81T,Missense_I81T,Missense_I81T,Missense_I81T,Missense_I81T,Missense_I81T,Missense_I81T,Silent exm295286 3 20225278 [A/T] NM_001199252,NM_001199257,NM_138484,NM_001199254,NM_001012410,NM_001012412,NM_001199256,NM_001199253,NM_001012413,NM_001012409,NM_001199255,NM_001012411,NM_001199251,NR_046723 SGOL1,SGOL1,SGOL1,SGOL1,SGOL1,SGOL1,SGOL1,SGOL1,SGOL1,SGOL1,SGOL1,SGOL1,SGOL1,SGOL1-AS1 EXON Missense_L54Q,Missense_L54Q,Missense_L54Q,Missense_L54Q,Missense_L54Q,Missense_L54Q,Missense_L54Q,Missense_L54Q,Missense_L54Q,Missense_L54Q,Missense_L54Q,Missense_L54Q,Missense_L54Q,Silent exm295292 3 20225429 [A/C] NM_001199252,NM_001199257,NM_138484,NM_001199254,NM_001012410,NM_001012412,NM_001199256,NM_001199253,NM_001012413,NM_001012409,NM_001199255,NM_001012411,NM_001199251,NR_046723 SGOL1,SGOL1,SGOL1,SGOL1,SGOL1,SGOL1,SGOL1,SGOL1,SGOL1,SGOL1,SGOL1,SGOL1,SGOL1,SGOL1-AS1 EXON Missense_A31S,Missense_A31S,Missense_A31S,Missense_A31S,Missense_A31S,Missense_A31S,Missense_A31S,Missense_A31S,Missense_A31S,Missense_A31S,Missense_A31S,Missense_A31S,Missense_A31S,Silent exm295293 3 20225453 [T/C] NM_001199252,NM_001199257,NM_138484,NM_001199254,NM_001012410,NM_001012412,NM_001199256,NM_001199253,NM_001012413,NM_001012409,NM_001199255,NM_001012411,NM_001199251,NR_046723 SGOL1,SGOL1,SGOL1,SGOL1,SGOL1,SGOL1,SGOL1,SGOL1,SGOL1,SGOL1,SGOL1,SGOL1,SGOL1,SGOL1-AS1 EXON Missense_K23E,Missense_K23E,Missense_K23E,Missense_K23E,Missense_K23E,Missense_K23E,Missense_K23E,Missense_K23E,Missense_K23E,Missense_K23E,Missense_K23E,Missense_K23E,Missense_K23E,Silent exm2269412 3 20772716 [T/C] exm2269413 3 20995849 [T/C] exm-rs11720452 3 21248642 [T/C] exm-rs1605524 3 21376648 [A/G] exm2265567 3 21399012 [A/G] exm295312 3 21465510 [A/G] NM_024697 ZNF385D EXON Missense_P300L exm295323 3 21467150 [T/G] NM_024697 ZNF385D EXON Missense_K229T exm295324 3 21478476 [T/G] NM_024697 ZNF385D EXON Missense_E220A exm295333 3 21478645 [A/G] NM_024697 ZNF385D EXON Missense_R164C exm295336 3 21478694 [A/G] NM_024697 ZNF385D EXON Synonymous_D147D exm295339 3 21552412 [A/G] NM_024697 ZNF385D EXON Missense_A127V exm295345 3 21606118 [T/C] NM_024697 ZNF385D EXON Missense_R75Q exm2255945 3 21689964 [T/G] NM_024697 ZNF385D Silent exm-rs3821396 3 21706369 [A/G] NM_024697 ZNF385D Silent exm295353 3 21706469 [T/G] NM_024697 ZNF385D EXON Missense_P25H exm295354 3 21706473 [G/C] NM_024697 ZNF385D EXON Missense_A24P exm295357 3 21706503 [A/G] NM_024697 ZNF385D EXON Missense_P14S exm-rs1490157 3 21719246 [T/C] NM_024697 ZNF385D Silent exm-rs2593321 3 22122396 [T/C] exm2269415 3 22350158 [T/C] exm2269609 3 22466842 [T/C] exm-rs9310709 3 23093574 [T/C] exm2255949 3 23176416 [A/G] exm2265568 3 23242050 [A/G] exm295375 3 23848835 [A/C] NM_182666,NM_003341 UBE2E1,UBE2E1 EXON Missense_E25D,Missense_E25D exm2265428 3 23893940 [A/G] NM_182666,NM_003341,NM_001202476 UBE2E1,UBE2E1,UBE2E1 Silent,Silent,Silent exm2239345 3 23929083 [T/C] NM_182666,NM_003341,NM_001202476 UBE2E1,UBE2E1,UBE2E1 EXON Missense_Y60H,Missense_Y77H,Missense_Y44H exm295397 3 23934639 [T/C] NM_020345 NKIRAS1 EXON Missense_S176G exm295398 3 23934648 [T/C] NM_020345 NKIRAS1 EXON Missense_S173G exm295400 3 23934710 [G/C] NM_020345 NKIRAS1 EXON Missense_T152R exm295463 3 24003564 [A/G] NM_005126,NM_001145425 NR1D2,NR1D2 EXON Missense_G205D,Missense_G130D exm295467 3 24003590 [A/G] NM_005126,NM_001145425 NR1D2,NR1D2 EXON Missense_E214K,Missense_E139K exm2048718 3 24003646 [A/C] NM_005126,NM_001145425 NR1D2,NR1D2 EXON Missense_Q232H,Missense_Q157H exm295474 3 24003803 [A/G] NM_005126,NM_001145425 NR1D2,NR1D2 EXON Missense_E285K,Missense_E210K exm295479 3 24003852 [A/G] NM_005126,NM_001145425 NR1D2,NR1D2 EXON Missense_C301Y,Missense_C226Y exm295482 3 24003858 [A/G] NM_005126,NM_001145425 NR1D2,NR1D2 EXON Missense_N303S,Missense_N228S exm295484 3 24003945 [A/G] NM_005126,NM_001145425 NR1D2,NR1D2 EXON Missense_N332S,Missense_N257S exm295485 3 24003959 [T/G] NM_005126,NM_001145425 NR1D2,NR1D2 EXON Missense_C337G,Missense_C262G exm295495 3 24006477 [T/A] NM_005126,NM_001145425 NR1D2,NR1D2 EXON Missense_L386M,Missense_L311M exm2048726 3 24009322 [A/G] NM_005126,NM_001145425 NR1D2,NR1D2 EXON Missense_A451T,Missense_A376T exm295503 3 24009341 [A/G] NM_005126,NM_001145425 NR1D2,NR1D2 EXON Missense_K457R,Missense_K382R exm295511 3 24018783 [C/G] NM_005126,NM_001145425 NR1D2,NR1D2 EXON Missense_T538S,Missense_T463S exm295544 3 24185137 [T/C] NM_001128176,NM_001252634,NM_000461,NM_001128177 THRB,THRB,THRB,THRB EXON Missense_K198R,Missense_K198R,Missense_K198R,Missense_K198R exm2048747 3 24231780 [T/C] NM_001128176,NM_001252634,NM_000461,NM_001128177 THRB,THRB,THRB,THRB EXON Missense_R23Q,Missense_R23Q,Missense_R23Q,Missense_R23Q exm295575 3 24231796 [T/G] NM_001128176,NM_001252634,NM_000461,NM_001128177 THRB,THRB,THRB,THRB EXON Missense_K18Q,Missense_K18Q,Missense_K18Q,Missense_K18Q exm295576 3 24270440 [T/C] NM_001128176,NM_001252634,NM_000461,NM_001128177 THRB,THRB,THRB,THRB EXON Missense_N4S,Missense_N4S,Missense_N4S,Missense_N4S exm-rs1700936 3 24327558 [T/C] NM_001128176,NM_001252634,NM_000461,NM_001128177 THRB,THRB,THRB,THRB Silent,Silent,Silent,Silent exm2255951 3 24339734 [A/G] NM_001128176,NM_001252634,NM_000461,NM_001128177 THRB,THRB,THRB,THRB Silent,Silent,Silent,Silent exm-rs9310736 3 24350811 [A/G] NM_001128176,NM_001252634,NM_000461,NM_001128177 THRB,THRB,THRB,THRB Silent,Silent,Silent,Silent exm2261475 3 24904904 [A/G] exm2255952 3 25063595 [T/C] exm-rs993804 3 25112171 [T/C] exm2255954 3 25423265 [T/C] exm2048753 3 25470268 [G/C] NM_016152,NM_000965 RARB,RARB EXON Silent,Missense_L16V exm-rs1435703 3 25560231 [T/G] NM_016152,NM_000965 RARB,RARB Silent,Silent exm295615 3 25622155 [C/G] NM_016152,NM_000965 RARB,RARB EXON Missense_T131S,Missense_T243S exm2255955 3 25622168 [T/C] NM_016152,NM_000965 RARB,RARB EXON Synonymous_I135I,Synonymous_I247I exm295625 3 25635127 [A/C] NM_016152,NM_000965 RARB,RARB EXON Missense_N195T,Missense_N307T exm295640 3 25639821 [T/C] NM_001068 TOP2B EXON Missense_V1615I exm295641 3 25639828 [T/A] NM_001068 TOP2B EXON Missense_E1612D exm295645 3 25639964 [A/G] NM_001068 TOP2B EXON Missense_P1567L exm295646 3 25640934 [T/C] NM_001068 TOP2B EXON Missense_T1563A exm295650 3 25642693 [T/G] NM_001068 TOP2B EXON Missense_P1500T exm295655 3 25646268 [A/G] NM_001068 TOP2B EXON Missense_T1486M exm295658 3 25648698 [T/C] NM_001068 TOP2B EXON Missense_Y1416C exm295660 3 25648736 [A/C] NM_001068 TOP2B EXON Missense_D1403E exm295668 3 25648865 [A/G] NM_001068 TOP2B EXON Synonymous_A1360A exm295670 3 25650812 [T/C] NM_001068 TOP2B EXON Missense_T1314A exm295683 3 25654166 [A/G] NM_001068 TOP2B EXON Missense_A1204V exm295685 3 25656775 [T/C] NM_001068 TOP2B EXON Missense_R1166Q exm295710 3 25666268 [A/T] NM_001068 TOP2B EXON Missense_L746I exm295729 3 25672322 [T/C] NM_001068 TOP2B EXON Missense_I454V exm295731 3 25672412 [T/C] NM_001068 TOP2B EXON Missense_V424I exm295743 3 25675505 [A/C] NM_001068 TOP2B EXON Missense_V280L exm295750 3 25678716 [T/C] NM_001068 TOP2B EXON Missense_S205N exm295768 3 25686838 [T/G] NM_001068 TOP2B EXON Missense_L60I exm295783 3 25761112 [A/G] NM_001145294,NM_001145295,NM_018297,NM_001145293 NGLY1,NGLY1,NGLY1,NGLY1 EXON Missense_S560P,Synonymous_T542T,Missense_S602P,Missense_S584P exm295790 3 25770627 [T/G] NM_001145294,NM_001145295,NM_018297,NM_001145293 NGLY1,NGLY1,NGLY1,NGLY1 EXON Missense_H494Q,Missense_H536Q,Missense_H536Q,Missense_H518Q exm295791 3 25770656 [T/C] NM_001145294,NM_001145295,NM_018297,NM_001145293 NGLY1,NGLY1,NGLY1,NGLY1 EXON Missense_I485V,Missense_I527V,Missense_I527V,Missense_I509V exm295795 3 25770727 [T/C] NM_001145294,NM_001145295,NM_018297,NM_001145293 NGLY1,NGLY1,NGLY1,NGLY1 EXON Missense_R461H,Missense_R503H,Missense_R503H,Missense_R485H exm2269611 3 25771579 [T/G] NM_001145294,NM_001145295,NM_018297,NM_001145293 NGLY1,NGLY1,NGLY1,NGLY1 Silent,Silent,Silent,Silent exm2048852 3 25773880 [C/G] NM_001145294,NM_001145295,NM_018297,NM_001145293 NGLY1,NGLY1,NGLY1,NGLY1 EXON Missense_P410R,Missense_P452R,Missense_P452R,Missense_P434R exm295802 3 25773902 [T/G] NM_001145294,NM_001145295,NM_018297,NM_001145293 NGLY1,NGLY1,NGLY1,NGLY1 EXON Missense_I403L,Missense_I445L,Missense_I445L,Missense_I427L exm295809 3 25775392 [A/G] NM_001145294,NM_001145295,NM_018297,NM_001145293 NGLY1,NGLY1,NGLY1,NGLY1 EXON Nonsense_R369X,Nonsense_R411X,Nonsense_R411X,Nonsense_R393X exm295810 3 25775422 [A/T] NM_001145294,NM_001145295,NM_018297,NM_001145293 NGLY1,NGLY1,NGLY1,NGLY1 EXON Nonsense_R359X,Nonsense_R401X,Nonsense_R401X,Nonsense_R383X exm295813 3 25777564 [T/G] NM_001145294,NM_001145295,NM_018297,NM_001145293 NGLY1,NGLY1,NGLY1,NGLY1 EXON Missense_D318E,Missense_D360E,Missense_D360E,Silent exm295822 3 25778931 [A/C] NM_001145294,NM_001145295,NM_018297,NM_001145293 NGLY1,NGLY1,NGLY1,NGLY1 EXON Missense_E257D,Missense_E299D,Missense_E299D,Missense_E299D exm295826 3 25781131 [G/C] NM_001145294,NM_001145295,NM_018297,NM_001145293 NGLY1,NGLY1,NGLY1,NGLY1 EXON Missense_W231S,Missense_W273S,Missense_W273S,Missense_W273S exm295847 3 25792697 [A/C] NM_001145294,NM_001145295,NM_018297,NM_001145293 NGLY1,NGLY1,NGLY1,NGLY1 EXON Missense_V142F,Missense_V184F,Missense_V184F,Missense_V184F exm295880 3 25832713 [A/G] NM_017897,NM_001145391,NR_026937 OXSM,OXSM,OXSM EXON Missense_G68R,Missense_G68R,Silent exm295889 3 25833094 [C/G] NM_017897,NM_001145391,NR_026937 OXSM,OXSM,OXSM EXON Missense_R195G,Missense_R195G,Silent exm295892 3 25833202 [A/G] NM_017897,NM_001145391,NR_026937 OXSM,OXSM,OXSM EXON Missense_M231V,Silent,Silent exm295900 3 25833320 [A/G] NM_017897,NM_001145391,NR_026937 OXSM,OXSM,OXSM EXON Missense_K270R,Silent,Silent exm295905 3 25833401 [A/G] NM_017897,NM_001145391,NR_026937 OXSM,OXSM,OXSM EXON Missense_R297Q,Silent,Silent exm295911 3 25835767 [T/G] NM_017897,NM_001145391,NR_026937 OXSM,OXSM,OXSM EXON Nonsense_G388X,Nonsense_G305X,Silent exm2255957 3 25835772 [T/G] NM_017897,NM_001145391,NR_026937 OXSM,OXSM,OXSM EXON Synonymous_A389A,Synonymous_A306A,Silent exm295914 3 25835860 [G/C] NM_017897,NM_001145391,NR_026937 OXSM,OXSM,OXSM EXON Missense_E419Q,Missense_E336Q,Silent exm295920 3 25835983 [T/C] NM_017897,NM_001145391,NR_026937 OXSM,OXSM,OXSM EXON Missense_X460Q,Missense_X377Q,Silent exm2265570 3 26256357 [A/G] exm2269420 3 26562597 [T/C] exm296088 3 27326094 [A/T] NM_199347 NEK10 EXON Synonymous_V671V exm2255960 3 27326097 [T/G] NM_199347 NEK10 EXON Synonymous_T670T exm296090 3 27326131 [T/C] NM_199347 NEK10 EXON Missense_N659S exm296096 3 27326451 [A/G] NM_199347 NEK10 EXON Synonymous_N597N exm296103 3 27332820 [A/G] NM_199347 NEK10 EXON Missense_L513S exm2048937 3 27333013 [T/C] NM_199347 NEK10 EXON Missense_A480T exm296104 3 27333024 [T/C] NM_199347 NEK10 EXON Missense_R476H exm296112 3 27338698 [T/C] NM_199347 NEK10 EXON Missense_N401S exm296113 3 27338730 [A/G] NM_199347 NEK10 EXON Synonymous_A390A exm2265571 3 27349047 [A/G] NM_199347 NEK10 Silent exm296137 3 27363739 [A/G] NM_199347 NEK10 EXON Nonsense_R126X exm296139 3 27385817 [T/C] NM_199347 NEK10 EXON Missense_R103H exm296143 3 27387641 [T/C] NM_199347 NEK10 EXON Missense_G67S exm296148 3 27387690 [T/G] NM_199347 NEK10 EXON Missense_F50L exm296151 3 27393976 [T/C] NM_199347 NEK10 EXON Missense_V38I exm-rs4973768 3 27416013 [T/C] NM_003615,NM_001258380,NM_001258379 SLC4A7,SLC4A7,SLC4A7 EXON Silent,Silent,Silent exm296156 3 27418257 [A/G] NM_003615,NM_001258380,NM_001258379 SLC4A7,SLC4A7,SLC4A7 EXON Missense_X1215Q,Missense_X1091Q,Missense_X1132Q exm296164 3 27424710 [T/C] NM_003615,NM_001258380,NM_001258379 SLC4A7,SLC4A7,SLC4A7 EXON Missense_D1166G,Missense_D1042G,Missense_D1047G exm296172 3 27427425 [A/T] NM_003615,NM_001258380,NM_001258379 SLC4A7,SLC4A7,SLC4A7 EXON Missense_S1141R,Missense_S1017R,Missense_S1022R exm296184 3 27436597 [A/G] NM_003615,NM_001258380,NM_001258379 SLC4A7,SLC4A7,SLC4A7 EXON Missense_P896S,Missense_P772S,Missense_P777S exm296190 3 27439742 [T/C] NM_003615,NM_001258380,NM_001258379 SLC4A7,SLC4A7,SLC4A7 EXON Missense_T835A,Missense_T711A,Missense_T716A exm296191 3 27439775 [G/C] NM_003615,NM_001258380,NM_001258379 SLC4A7,SLC4A7,SLC4A7 EXON Missense_V824L,Missense_V700L,Missense_V705L exm296193 3 27439790 [G/C] NM_003615,NM_001258380,NM_001258379 SLC4A7,SLC4A7,SLC4A7 EXON Missense_P819A,Missense_P695A,Missense_P700A exm296200 3 27444657 [T/C] NM_003615,NM_001258380,NM_001258379 SLC4A7,SLC4A7,SLC4A7 EXON Missense_N756S,Missense_N632S,Missense_N637S exm296203 3 27444664 [T/C] NM_003615,NM_001258380,NM_001258379 SLC4A7,SLC4A7,SLC4A7 EXON Missense_M754V,Missense_M630V,Missense_M635V exm296218 3 27453185 [T/C] NM_003615,NM_001258380,NM_001258379 SLC4A7,SLC4A7,SLC4A7 EXON Missense_T563A,Missense_T439A,Missense_T444A exm296243 3 27472839 [A/G] NM_003615,NM_001258380,NM_001258379 SLC4A7,SLC4A7,SLC4A7 EXON Missense_A358V,Silent,Silent exm296244 3 27472846 [T/C] NM_003615,NM_001258380,NM_001258379 SLC4A7,SLC4A7,SLC4A7 EXON Missense_E356K,Silent,Silent exm296246 3 27472936 [T/C] NM_003615,NM_001258380,NM_001258379 SLC4A7,SLC4A7,SLC4A7 EXON Missense_E326K,Silent,Silent exm296255 3 27473124 [G/C] NM_003615,NM_001258380,NM_001258379 SLC4A7,SLC4A7,SLC4A7 EXON Missense_T263R,Silent,Silent exm296256 3 27473127 [T/C] NM_003615,NM_001258380,NM_001258379 SLC4A7,SLC4A7,SLC4A7 EXON Missense_R262Q,Silent,Silent exm296257 3 27473139 [T/C] NM_003615,NM_001258380,NM_001258379 SLC4A7,SLC4A7,SLC4A7 EXON Missense_R258H,Silent,Silent exm296259 3 27473156 [T/A] NM_003615,NM_001258380,NM_001258379 SLC4A7,SLC4A7,SLC4A7 EXON Missense_E252D,Silent,Silent exm296276 3 27490159 [T/C] NM_003615,NM_001258380,NM_001258379 SLC4A7,SLC4A7,SLC4A7 EXON Missense_R82Q,Missense_R82Q,Missense_R87Q exm2261480 3 27614316 [A/C] exm2269421 3 27615419 [T/C] exm296324 3 27759192 [A/G] NM_005442 EOMES EXON Missense_P477L exm296325 3 27759202 [A/G] NM_005442 EOMES EXON Missense_S474P exm296327 3 27759208 [T/C] NM_005442 EOMES EXON Missense_V472I exm296365 3 27763770 [C/G] NM_005442 EOMES EXON Missense_Q6E exm-rs9823274 3 27812666 [T/G] exm2269422 3 27919338 [T/C] exm296372 3 28304794 [G/C] NM_182523 CMC1 EXON Missense_R11T exm296382 3 28361031 [A/G] NM_182523 CMC1 EXON Missense_K78E exm2239356 3 28361095 [T/C] NM_182523 CMC1 EXON Missense_L99P exm296392 3 28365865 [T/C] NM_001271650,NM_022461 AZI2,AZI2 EXON Missense_T171A,Missense_T283A exm296401 3 28378263 [T/C] NM_001271650,NM_022461,NM_001134433,NM_001134432 AZI2,AZI2,AZI2,AZI2 EXON Missense_D73N,Missense_D185N,Missense_D185N,Missense_D185N exm296403 3 28378347 [T/C] NM_001271650,NM_022461,NM_001134433,NM_001134432 AZI2,AZI2,AZI2,AZI2 EXON Missense_N45D,Missense_N157D,Missense_N157D,Missense_N157D exm296419 3 28454627 [A/G] NM_001040432 ZCWPW2 EXON Missense_N23S exm296431 3 28476661 [A/T] NM_001040432 ZCWPW2 EXON Missense_D131E exm2049086 3 28520380 [T/C] NM_001040432 ZCWPW2 EXON Missense_H190Y exm296450 3 28555577 [T/C] NM_001040432 ZCWPW2 EXON Missense_I227T exm296452 3 28557052 [A/G] NM_001040432 ZCWPW2 EXON Missense_I242V exm296454 3 28557092 [G/C] NM_001040432 ZCWPW2 EXON Missense_A255G exm296455 3 28557114 [T/C] NM_001040432 ZCWPW2 Silent exm296464 3 28566101 [A/G] NM_001040432 ZCWPW2 EXON Missense_I331M exm296465 3 28566126 [A/G] NM_001040432 ZCWPW2 EXON Missense_E340K exm2269423 3 28567322 [T/C] exm-rs7617877 3 28705764 [A/G] NR_038840 LINC00693 Silent exm2269612 3 28828525 [T/G] exm2265431 3 29387631 [A/G] NM_001177711,NM_001003793,NM_001177712,NM_001003792,NM_014483 RBMS3,RBMS3,RBMS3,RBMS3,RBMS3 Silent,Silent,Silent,Silent,Silent exm2239360 3 29476318 [A/G] NM_001177711,NM_001003793,NM_001177712,NM_001003792,NM_014483 RBMS3,RBMS3,RBMS3,RBMS3,RBMS3 EXON Missense_S54G,Missense_S54G,Missense_S54G,Missense_S53G,Missense_S54G exm296474 3 29476391 [A/T] NM_001177711,NM_001003793,NM_001177712,NM_001003792,NM_014483 RBMS3,RBMS3,RBMS3,RBMS3,RBMS3 EXON Missense_I78N,Missense_I78N,Missense_I78N,Missense_I77N,Missense_I78N exm-rs1530057 3 29575463 [T/G] NM_001177711,NM_001003793,NM_001177712,NM_001003792,NM_014483 RBMS3,RBMS3,RBMS3,RBMS3,RBMS3 Silent,Silent,Silent,Silent,Silent exm296484 3 29628682 [A/G] NM_001177711,NM_001003793,NM_001177712,NM_001003792,NM_014483 RBMS3,RBMS3,RBMS3,RBMS3,RBMS3 EXON Missense_A129T,Missense_A129T,Missense_A129T,Missense_A128T,Missense_A129T exm2255966 3 29729120 [A/G] NM_001177711,NM_001003793,NM_001177712,NM_001003792,NM_014483 RBMS3,RBMS3,RBMS3,RBMS3,RBMS3 Silent,Silent,Silent,Silent,Silent exm-rs10510628 3 29853403 [A/G] NM_001177711,NM_001003793,NM_001177712,NM_001003792,NM_014483 RBMS3,RBMS3,RBMS3,RBMS3,RBMS3 Silent,Silent,Silent,Silent,Silent exm296511 3 29977687 [A/G] NM_001177711,NM_001003793,NM_001177712,NM_001003792,NM_014483 RBMS3,RBMS3,RBMS3,RBMS3,RBMS3 EXON Synonymous_T350T,Synonymous_T350T,Synonymous_T363T,Synonymous_T332T,Synonymous_T350T exm296522 3 30029695 [T/C] NM_001177711,NM_001003793,NM_001177712,NM_001003792,NM_014483 RBMS3,RBMS3,RBMS3,RBMS3,RBMS3 EXON Missense_P371L,Missense_P387L,Missense_P384L,Missense_P369L,Missense_P371L exm2261482 3 30032530 [A/G] NM_001177711,NM_001003793,NM_001177712,NM_001003792,NM_014483 RBMS3,RBMS3,RBMS3,RBMS3,RBMS3 Silent,Silent,Silent,Silent,Silent exm2255967 3 30032626 [G/C] NM_001177711,NM_001003793,NM_001177712,NM_001003792,NM_014483 RBMS3,RBMS3,RBMS3,RBMS3,RBMS3 EXON Synonymous_T395T,Synonymous_T411T,Synonymous_T408T,Synonymous_T393T,Synonymous_T395T exm2265433 3 30193577 [A/G] exm-rs10510634 3 30346968 [A/G] exm296547 3 30664714 [A/G] NM_003242,NM_001024847 TGFBR2,TGFBR2 EXON Silent,Missense_D40N exm296550 3 30664729 [A/C] NM_003242,NM_001024847 TGFBR2,TGFBR2 EXON Silent,Missense_P45T exm2049164 3 30664732 [A/C] NM_003242,NM_001024847 TGFBR2,TGFBR2 EXON Silent,Missense_S46R exm296555 3 30686250 [A/G] NM_003242,NM_001024847 TGFBR2,TGFBR2 EXON Missense_M36V,Missense_M61V exm2255969 3 30690424 [A/G] NM_003242,NM_001024847 TGFBR2,TGFBR2 Silent,Silent exm-rs3773643 3 30710243 [A/G] NM_003242,NM_001024847 TGFBR2,TGFBR2 Silent,Silent exm2239363 3 30713246 [A/G] NM_003242,NM_001024847 TGFBR2,TGFBR2 EXON Missense_V191I,Missense_V216I exm296584 3 30713619 [T/C] NM_003242,NM_001024847 TGFBR2,TGFBR2 EXON Missense_T315M,Missense_T340M exm296588 3 30713660 [A/G] NM_003242,NM_001024847 TGFBR2,TGFBR2 EXON Missense_A329T,Missense_A354T exm296592 3 30713717 [T/C] NM_003242,NM_001024847 TGFBR2,TGFBR2 EXON Missense_R348C,Missense_R373C exm296594 3 30713753 [C/G] NM_003242,NM_001024847 TGFBR2,TGFBR2 EXON Missense_H360D,Missense_H385D exm296597 3 30713794 [A/G] NM_003242,NM_001024847 TGFBR2,TGFBR2 EXON Missense_M373I,Missense_M398I exm296600 3 30713834 [A/G] NM_003242,NM_001024847 TGFBR2,TGFBR2 EXON Missense_V387M,Missense_V412M exm296618 3 30733044 [A/T] NM_003242,NM_001024847 TGFBR2,TGFBR2 EXON Missense_S553T,Missense_S578T exm296622 3 30769761 [A/C] NM_207359 GADL1 EXON Missense_E513D exm296624 3 30769819 [T/C] NM_207359 GADL1 EXON Missense_R494H exm296625 3 30769840 [T/C] NM_207359 GADL1 EXON Missense_R487Q exm296627 3 30769847 [A/G] NM_207359 GADL1 EXON Missense_P485S exm296641 3 30819751 [T/C] NM_207359 GADL1 EXON Missense_A438T exm296643 3 30827898 [T/C] NM_207359 GADL1 EXON Synonymous_R417R exm296654 3 30842460 [A/G] NM_207359 GADL1 EXON Missense_F391L exm296658 3 30842517 [A/C] NM_207359 GADL1 EXON Missense_D372Y exm296663 3 30875374 [A/G] NM_207359 GADL1 EXON Missense_C341R exm296668 3 30875733 [T/C] NM_207359 GADL1 EXON Missense_R315H exm296675 3 30880518 [T/C] NM_207359 GADL1 EXON Missense_E292K exm2275658 3 30891522 [A/C] NM_207359 GADL1 EXON Missense_G206V exm2239368 3 30896214 [G/C] NM_207359 GADL1 EXON Missense_M135I exm296700 3 30896279 [A/G] NM_207359 GADL1 EXON Missense_H114Y exm296702 3 30898561 [A/G] NM_207359 GADL1 EXON Missense_P95S exm2265573 3 30975073 [A/G] exm2269425 3 31090454 [T/C] exm2261484 3 31386232 [A/G] exm-rs17027625 3 31445580 [T/C] exm-rs2372321 3 31446887 [A/C] exm2269426 3 31481326 [T/C] exm296720 3 31617966 [T/G] NM_178862 STT3B EXON Missense_W131C exm296741 3 31656614 [A/G] NM_178862 STT3B EXON Missense_I299V exm296748 3 31659458 [T/G] NM_178862 STT3B EXON Missense_F384V exm296778 3 31674551 [A/G] NM_178862 STT3B EXON Missense_K771R exm296782 3 31674605 [A/G] NM_178862 STT3B EXON Missense_N789S exm296818 3 31725213 [T/C] NM_017784,NM_001174060 OSBPL10,OSBPL10 EXON Missense_E547K,Missense_E483K exm2049334 3 31725335 [T/C] NM_017784,NM_001174060 OSBPL10,OSBPL10 EXON Missense_R506H,Missense_R442H exm296831 3 31725450 [T/C] NM_017784,NM_001174060 OSBPL10,OSBPL10 EXON Missense_E468K,Missense_E404K exm296838 3 31743901 [T/C] NM_017784,NM_001174060 OSBPL10,OSBPL10 EXON Missense_I399V,Missense_I335V exm296840 3 31743907 [A/G] NM_017784,NM_001174060 OSBPL10,OSBPL10 EXON Missense_R397C,Missense_R333C exm296868 3 31789582 [T/C] NM_017784,NM_001174060 OSBPL10,OSBPL10 EXON Missense_N254D,Missense_N190D exm-rs1902341 3 31795570 [T/C] NM_017784,NM_001174060 OSBPL10,OSBPL10 Silent,Silent exm296876 3 31871578 [T/C] NM_017784,NM_001174060 OSBPL10,OSBPL10 EXON Missense_R228Q,Silent exm296879 3 31871593 [A/G] NM_017784,NM_001174060 OSBPL10,OSBPL10 EXON Missense_S223L,Silent exm296884 3 31871656 [A/G] NM_017784,NM_001174060 OSBPL10,OSBPL10 EXON Missense_P202L,Silent exm296886 3 31871710 [A/G] NM_017784,NM_001174060 OSBPL10,OSBPL10 EXON Missense_S184F,Silent exm296892 3 31917936 [T/C] NM_017784,NM_001174060 OSBPL10,OSBPL10 EXON Missense_M176V,Missense_M176V exm2049383 3 31917989 [T/C] NM_017784,NM_001174060 OSBPL10,OSBPL10 EXON Missense_E158G,Missense_E158G exm296906 3 32030662 [A/G] NM_001137674 ZNF860 EXON Missense_I31V exm296908 3 32030881 [A/G] NM_001137674 ZNF860 EXON Missense_K104E exm296910 3 32030998 [T/C] NM_001137674 ZNF860 EXON Nonsense_R143X exm296912 3 32031053 [T/C] NM_001137674 ZNF860 EXON Missense_S161L exm296923 3 32031615 [A/C] NM_001137674 ZNF860 EXON Missense_E348D exm296924 3 32031622 [T/C] NM_001137674 ZNF860 EXON Missense_F351L exm2255977 3 32031852 [A/G] NM_001137674 ZNF860 EXON Synonymous_K427K exm296930 3 32031895 [A/G] NM_001137674 ZNF860 EXON Missense_V442I exm296952 3 32180100 [A/G] NM_015141 GPD1L EXON Missense_E83K exm296962 3 32181723 [A/G] NM_015141 GPD1L EXON Missense_I124V exm296973 3 32188128 [A/G] NM_015141 GPD1L EXON Missense_E174K exm296988 3 32200408 [A/G] NM_015141 GPD1L EXON Missense_R220H exm296998 3 32200588 [T/C] NM_015141 GPD1L EXON Missense_A280V exm-rs4380451 3 32329497 [T/C] NM_178868 CMTM8 Silent exm297022 3 32398914 [A/G] NM_178868 CMTM8 EXON Missense_R66Q exm297026 3 32398997 [A/G] NM_178868 CMTM8 EXON Missense_M94V exm297030 3 32409379 [A/G] NM_178868 CMTM8 EXON Missense_G113S exm297031 3 32409391 [A/G] NM_178868 CMTM8 EXON Missense_V117I exm297033 3 32409410 [T/C] NM_178868 CMTM8 EXON Missense_A123V exm2261485 3 32439785 [A/G] NM_181472,NM_138410 CMTM7,CMTM7 Silent,Silent exm2255979 3 32481915 [T/C] NM_181472,NM_138410 CMTM7,CMTM7 Silent,Silent exm297046 3 32483474 [A/G] NM_181472,NM_138410 CMTM7,CMTM7 EXON Missense_R101H,Missense_R101H exm-rs12638540 3 32488534 [A/G] NM_181472,NM_138410 CMTM7,CMTM7 Silent,Silent exm297055 3 32493888 [T/C] NM_181472,NM_138410 CMTM7,CMTM7 EXON Missense_F113S,Missense_F146S exm-rs7640978 3 32533010 [T/C] NM_017801 CMTM6 Silent exm297071 3 32533246 [T/C] NM_017801 CMTM6 EXON Missense_T91A exm297075 3 32544147 [T/C] NM_017801 CMTM6 EXON Missense_M31V exm297110 3 32576060 [A/G] NM_016141 DYNC1LI1 EXON Missense_L304P exm297115 3 32578505 [T/C] NM_016141 DYNC1LI1 EXON Missense_Q277R exm297134 3 32586421 [T/C] NM_016141 DYNC1LI1 EXON Missense_H172R exm297135 3 32586491 [T/C] NM_016141 DYNC1LI1 EXON Missense_V149I exm297136 3 32586496 [A/G] NM_016141 DYNC1LI1 EXON Missense_M147T exm297137 3 32586499 [A/G] NM_016141 DYNC1LI1 EXON Missense_V146A exm297139 3 32586521 [T/C] NM_016141 DYNC1LI1 EXON Missense_V139I exm297145 3 32587449 [T/C] NM_016141 DYNC1LI1 EXON Missense_G77R exm297153 3 32612174 [A/C] NM_016141 DYNC1LI1 EXON Missense_I30R exm297154 3 32612195 [G/C] NM_016141 DYNC1LI1 EXON Missense_G23A exm297160 3 32745369 [G/C] NM_015442,NM_001256741,NR_046352,NM_001256742 CNOT10,CNOT10,CNOT10,CNOT10 EXON Missense_A11G,Missense_A11G,Silent,Missense_A71G exm297162 3 32745454 [A/G] NM_015442,NM_001256741,NR_046352,NM_001256742 CNOT10,CNOT10,CNOT10,CNOT10 EXON Synonymous_T39T,Synonymous_T39T,Silent,Synonymous_T99T exm297195 3 32769189 [A/T] NM_015442,NM_001256741,NR_046352,NM_001256742 CNOT10,CNOT10,CNOT10,CNOT10 EXON Missense_T348S,Missense_T348S,Silent,Missense_T408S exm297201 3 32776360 [T/C] NM_015442,NM_001256741,NR_046352,NM_001256742 CNOT10,CNOT10,CNOT10,CNOT10 EXON Missense_L469S,Missense_L469S,Silent,Missense_L529S exm297205 3 32778930 [A/C] NM_015442,NM_001256741,NR_046352,NM_001256742 CNOT10,CNOT10,CNOT10,CNOT10 EXON Missense_I515L,Silent,Silent,Missense_I575L exm297208 3 32800957 [A/G] NM_015442,NM_001256741,NR_046352,NM_001256742 CNOT10,CNOT10,CNOT10,CNOT10 EXON Missense_I535V,Missense_I508V,Silent,Missense_I595V exm297210 3 32800976 [A/T] NM_015442,NM_001256741,NR_046352,NM_001256742 CNOT10,CNOT10,CNOT10,CNOT10 EXON Missense_Y541F,Missense_Y514F,Silent,Missense_Y601F exm-rs9845475 3 32842101 [T/G] exm297243 3 32859603 [A/G] NM_001039111 TRIM71 EXON Missense_I11V exm2265436 3 32886446 [A/G] NM_001039111 TRIM71 Silent exm2255981 3 32915429 [C/G] NM_001039111 TRIM71 EXON Synonymous_L324L exm297295 3 32932095 [T/G] NM_001039111 TRIM71 EXON Missense_A467S exm297297 3 32932159 [A/G] NM_001039111 TRIM71 EXON Missense_K488R exm297299 3 32932183 [A/G] NM_001039111 TRIM71 EXON Missense_R496H exm297305 3 32932455 [A/G] NM_001039111 TRIM71 EXON Missense_V587M exm297309 3 32932485 [A/G] NM_001039111 TRIM71 EXON Missense_G597S exm297313 3 32932642 [A/G] NM_001039111 TRIM71 EXON Missense_R649Q exm297321 3 32932890 [A/G] NM_001039111 TRIM71 EXON Missense_V732I exm297330 3 32933068 [A/G] NM_001039111 TRIM71 EXON Missense_N791S exm297333 3 32933121 [A/G] NM_001039111 TRIM71 EXON Missense_I809V exm297341 3 32933295 [A/G] NM_001039111 TRIM71 EXON Missense_V867I exm297379 3 32995884 [A/G] NM_005508 CCR4 EXON Missense_G324S exm-rs13314993 3 33015469 [T/G] exm-rs4678680 3 33020035 [T/G] exm297393 3 33038787 [T/C] NM_001079811,NM_000404,NM_001135602 GLB1,GLB1,GLB1 EXON Missense_R565Q,Missense_R595Q,Missense_R464Q exm297398 3 33055567 [T/C] NM_001079811,NM_000404,NM_001135602 GLB1,GLB1,GLB1 EXON Missense_Q542R,Missense_Q572R,Missense_Q441R exm297403 3 33055688 [T/C] NM_001079811,NM_000404,NM_001135602 GLB1,GLB1,GLB1 EXON Missense_S502G,Missense_S532G,Missense_S401G exm297405 3 33055705 [T/C] NM_001079811,NM_000404,NM_001135602 GLB1,GLB1,GLB1 EXON Missense_G496D,Missense_G526D,Missense_G395D exm297407 3 33055720 [T/C] NM_001079811,NM_000404,NM_001135602 GLB1,GLB1,GLB1 EXON Missense_C491Y,Missense_C521Y,Missense_C390Y exm297408 3 33055721 [A/G] NM_001079811,NM_000404,NM_001135602 GLB1,GLB1,GLB1 EXON Missense_C491R,Missense_C521R,Missense_C390R exm297421 3 33059977 [T/C] NM_001079811,NM_000404,NM_001135602 GLB1,GLB1,GLB1 EXON Missense_N407S,Missense_N437S,Missense_N306S exm297422 3 33059981 [A/G] NM_001079811,NM_000404,NM_001135602 GLB1,GLB1,GLB1 EXON Missense_L406F,Missense_L436F,Missense_L305F exm297423 3 33060002 [A/G] NM_001079811,NM_000404,NM_001135602 GLB1,GLB1,GLB1 EXON Missense_P399S,Missense_P429S,Missense_P298S exm297446 3 33094993 [T/C] NM_001079811,NM_000404,NM_001135602 GLB1,GLB1,GLB1 EXON Missense_K231R,Missense_K261R,Missense_K130R exm297453 3 33099691 [T/C] NM_001079811,NM_000404,NM_001135602 GLB1,GLB1,GLB1 EXON Missense_R178H,Missense_R208H,Silent exm297454 3 33099713 [A/G] NM_001079811,NM_000404,NM_001135602 GLB1,GLB1,GLB1 EXON Missense_R171C,Missense_R201C,Silent exm297464 3 33110383 [A/G] NM_001079811,NM_000404,NM_001135602 GLB1,GLB1,GLB1 EXON Missense_R79W,Missense_R109W,Silent exm297478 3 33134405 [T/C] NM_001079811,NM_000404,NM_001135602,NM_001039770,NM_001136238 GLB1,GLB1,GLB1,TMPPE,TMPPE EXON Silent,Silent,Silent,Missense_G428D,Missense_G291D exm297486 3 33134598 [T/C] NM_001079811,NM_000404,NM_001135602,NM_001039770,NM_001136238 GLB1,GLB1,GLB1,TMPPE,TMPPE EXON Silent,Silent,Silent,Missense_I364V,Missense_I227V exm297497 3 33134744 [T/C] NM_001079811,NM_000404,NM_001135602,NM_001039770,NM_001136238 GLB1,GLB1,GLB1,TMPPE,TMPPE EXON Silent,Silent,Silent,Missense_G315D,Missense_G178D exm297499 3 33134756 [T/C] NM_001079811,NM_000404,NM_001135602,NM_001039770,NM_001136238 GLB1,GLB1,GLB1,TMPPE,TMPPE EXON Silent,Silent,Silent,Missense_R311Q,Missense_R174Q exm2049633 3 33134847 [A/G] NM_001079811,NM_000404,NM_001135602,NM_001039770,NM_001136238 GLB1,GLB1,GLB1,TMPPE,TMPPE EXON Silent,Silent,Silent,Missense_Y281H,Missense_Y144H exm2239389 3 33135004 [T/C] NM_001079811,NM_000404,NM_001135602,NM_001039770,NM_001136238 GLB1,GLB1,GLB1,TMPPE,TMPPE EXON Silent,Silent,Silent,Missense_M228I,Missense_M91I exm297512 3 33135030 [T/C] NM_001079811,NM_000404,NM_001135602,NM_001039770,NM_001136238 GLB1,GLB1,GLB1,TMPPE,TMPPE EXON Silent,Silent,Silent,Missense_T220A,Missense_T83A exm297516 3 33135071 [T/C] NM_001079811,NM_000404,NM_001135602,NM_001039770,NM_001136238 GLB1,GLB1,GLB1,TMPPE,TMPPE EXON Silent,Silent,Silent,Missense_N206S,Missense_N69S exm2255982 3 33135592 [T/C] NM_001079811,NM_000404,NM_001135602,NM_001039770,NM_001136238 GLB1,GLB1,GLB1,TMPPE,TMPPE EXON Silent,Silent,Silent,Synonymous_A32A,Silent exm297539 3 33135592 [T/C] NM_001079811,NM_000404,NM_001135602,NM_001039770,NM_001136238 GLB1,GLB1,GLB1,TMPPE,TMPPE EXON Silent,Silent,Silent,Synonymous_A32A,Silent exm297541 3 33135605 [T/C] NM_001079811,NM_000404,NM_001135602,NM_001039770,NM_001136238 GLB1,GLB1,GLB1,TMPPE,TMPPE EXON Silent,Silent,Silent,Missense_R28H,Silent exm297548 3 33135657 [T/C] NM_001079811,NM_000404,NM_001135602,NM_001039770,NM_001136238 GLB1,GLB1,GLB1,TMPPE,TMPPE EXON Silent,Silent,Silent,Missense_A11T,Silent exm297555 3 33138549 [A/G] NM_000404,NM_001135602 GLB1,GLB1 EXON Missense_P10L,Missense_P10L exm297579 3 33156015 [A/G] NM_006371 CRTAP EXON Missense_K149R exm297580 3 33156020 [G/C] NM_006371 CRTAP EXON Missense_L151V exm297591 3 33161947 [A/G] NM_006371 CRTAP EXON Missense_E195K exm297595 3 33165912 [T/C] NM_006371 CRTAP EXON Nonsense_R212X exm297597 3 33165919 [T/C] NM_006371 CRTAP EXON Missense_V214A exm297601 3 33165933 [A/G] NM_006371 CRTAP EXON Missense_G219S exm297607 3 33166011 [A/G] NM_006371 CRTAP EXON Missense_A245T exm297610 3 33166039 [A/G] NM_006371 CRTAP EXON Missense_K254R exm297613 3 33171463 [T/C] NM_006371 CRTAP EXON Nonsense_Q276X exm297615 3 33171503 [T/C] NM_006371 CRTAP EXON Missense_P289L exm297625 3 33174163 [T/C] NM_006371 CRTAP EXON Missense_L347F exm297633 3 33194241 [T/C] NM_015551 SUSD5 EXON Missense_K628R exm297648 3 33194431 [A/C] NM_015551 SUSD5 EXON Missense_D565Y exm297649 3 33194470 [T/C] NM_015551 SUSD5 EXON Missense_S552G exm297651 3 33194504 [T/G] NM_015551 SUSD5 EXON Missense_D540E exm297656 3 33194596 [T/C] NM_015551 SUSD5 EXON Missense_I510V exm297659 3 33194721 [T/C] NM_015551 SUSD5 EXON Missense_Y468C exm297661 3 33194757 [T/C] NM_015551 SUSD5 EXON Missense_E456G exm297668 3 33194938 [T/C] NM_015551 SUSD5 EXON Missense_D396N exm297670 3 33194990 [A/C] NM_015551 SUSD5 EXON Missense_E378D exm297672 3 33195084 [A/G] NM_015551 SUSD5 EXON Missense_S347L exm297675 3 33195152 [C/G] NM_015551 SUSD5 EXON Missense_H324Q exm297677 3 33195202 [T/C] NM_015551 SUSD5 EXON Missense_K308E exm297679 3 33195213 [A/G] NM_015551 SUSD5 EXON Missense_P304L exm2239392 3 33195244 [A/G] NM_015551 SUSD5 EXON Missense_F294L exm297681 3 33195264 [T/C] NM_015551 SUSD5 EXON Missense_R287Q exm297684 3 33195309 [A/G] NM_015551 SUSD5 EXON Missense_L272S exm297687 3 33195356 [T/C] NM_015551 SUSD5 EXON Synonymous_G256G exm2255983 3 33195356 [T/C] NM_015551 SUSD5 EXON Synonymous_G256G exm297693 3 33195477 [T/C] NM_015551 SUSD5 EXON Missense_R216K exm297694 3 33195486 [T/G] NM_015551 SUSD5 EXON Missense_P213H exm297696 3 33216480 [T/C] NM_015551 SUSD5 EXON Missense_V166M exm2049677 3 33249308 [T/C] NM_015551 SUSD5 EXON Missense_K134R exm297704 3 33249326 [T/A] NM_015551 SUSD5 EXON Missense_Y128F exm2255985 3 33249370 [A/C] NM_015551 SUSD5 EXON Synonymous_A113A exm297713 3 33255592 [A/G] NM_015551 SUSD5 EXON Missense_F40L exm297739 3 33414819 [A/G] NM_012157,NM_001171713 FBXL2,FBXL2 EXON Missense_I143V,Silent exm297745 3 33416780 [T/C] NM_012157,NM_001171713 FBXL2,FBXL2 EXON Missense_R220C,Missense_R152C exm297753 3 33418788 [T/C] NM_012157,NM_001171713 FBXL2,FBXL2 EXON Missense_S271F,Missense_S203F exm297772 3 33425620 [A/G] NM_012157,NM_001171713 FBXL2,FBXL2 EXON Missense_N364S,Missense_N296S exm2049719 3 33434079 [T/A] NM_001128160,NM_014517,NM_001128161 UBP1,UBP1,UBP1 EXON Missense_C485S,Missense_C521S,Missense_C521S exm297825 3 33453135 [T/C] NM_001128160,NM_014517,NM_001128161 UBP1,UBP1,UBP1 EXON Missense_S165G,Missense_S165G,Missense_S165G exm297826 3 33453171 [T/C] NM_001128160,NM_014517,NM_001128161 UBP1,UBP1,UBP1 EXON Missense_M153V,Missense_M153V,Missense_M153V exm297834 3 33458266 [T/C] NM_001128160,NM_014517,NM_001128161 UBP1,UBP1,UBP1 EXON Missense_N109S,Missense_N109S,Missense_N109S exm-rs6765153 3 33461796 [A/C] NM_001128160,NM_014517,NM_001128161 UBP1,UBP1,UBP1 Silent,Silent,Silent exm297839 3 33467112 [A/G] NM_001128160,NM_014517,NM_001128161 UBP1,UBP1,UBP1 EXON Missense_H79Y,Missense_H79Y,Missense_H79Y exm297841 3 33467159 [C/G] NM_001128160,NM_014517,NM_001128161 UBP1,UBP1,UBP1 EXON Missense_P63R,Missense_P63R,Missense_P63R exm2269428 3 33468329 [T/G] NM_001128160,NM_014517,NM_001128161 UBP1,UBP1,UBP1 Silent,Silent,Silent exm297862 3 33543196 [G/C] NM_015097,NM_001207044 CLASP2,CLASP2 EXON Missense_A1470G,Missense_A1249G exm297871 3 33558489 [A/G] NM_015097,NM_001207044 CLASP2,CLASP2 EXON Missense_T1331M,Missense_T1110M exm297879 3 33576830 [A/G] NM_015097,NM_001207044 CLASP2,CLASP2 EXON Missense_S1237P,Missense_S1016P exm297883 3 33576854 [T/C] NM_015097,NM_001207044 CLASP2,CLASP2 EXON Missense_M1229V,Missense_M1008V exm297888 3 33580286 [T/C] NM_015097,NM_001207044 CLASP2,CLASP2 EXON Missense_D1194N,Missense_D973N exm297896 3 33586302 [A/T] NM_015097,NM_001207044 CLASP2,CLASP2 EXON Missense_E1071V,Missense_E850V exm297929 3 33633967 [A/G] NM_015097,NM_001207044 CLASP2,CLASP2 EXON Missense_S664L,Missense_S430L exm297934 3 33644497 [T/C] NM_015097,NM_001207044 CLASP2,CLASP2 EXON Missense_R625Q,Missense_R391Q exm297967 3 33725866 [T/C] NM_015097 CLASP2 EXON Missense_G210E exm297970 3 33728610 [A/G] NM_015097 CLASP2 EXON Missense_L163P exm2269429 3 33786741 [T/G] exm297998 3 33840234 [T/C] NM_001162429,NM_013374,NM_001256192 PDCD6IP,PDCD6IP,PDCD6IP EXON Missense_I5T,Missense_I5T,Missense_I5T exm2049802 3 33866713 [C/G] NM_001162429,NM_013374,NM_001256192 PDCD6IP,PDCD6IP,PDCD6IP EXON Missense_T166R,Missense_T166R,Missense_T166R exm298027 3 33868034 [A/G] NM_001162429,NM_013374,NM_001256192 PDCD6IP,PDCD6IP,PDCD6IP EXON Missense_A227T,Missense_A227T,Missense_A227T exm298042 3 33877626 [A/G] NM_001162429,NM_013374 PDCD6IP,PDCD6IP EXON Missense_A314T,Missense_A309T exm2049811 3 33877696 [T/C] NM_001162429,NM_013374 PDCD6IP,PDCD6IP EXON Missense_I337T,Missense_I332T exm298046 3 33877726 [T/C] NM_001162429,NM_013374 PDCD6IP,PDCD6IP EXON Missense_P347L,Missense_P342L exm2049816 3 33879764 [A/G] NM_001162429,NM_013374 PDCD6IP,PDCD6IP EXON Missense_D381N,Missense_D376N exm298050 3 33879770 [A/G] NM_001162429,NM_013374 PDCD6IP,PDCD6IP EXON Missense_V383I,Missense_V378I exm298090 3 33905532 [A/G] NM_001162429,NM_013374 PDCD6IP,PDCD6IP EXON Missense_A724T,Missense_A719T exm298094 3 33905566 [T/C] NM_001162429,NM_013374 PDCD6IP,PDCD6IP EXON Missense_S735L,Missense_S730L exm298096 3 33905587 [G/C] NM_001162429,NM_013374 PDCD6IP,PDCD6IP EXON Missense_P742R,Missense_P737R exm298104 3 33906807 [C/G] NM_001162429,NM_013374 PDCD6IP,PDCD6IP EXON Missense_A778P,Missense_A773P exm298110 3 33906823 [C/G] NM_001162429,NM_013374 PDCD6IP,PDCD6IP EXON Missense_G783A,Missense_G778A exm298120 3 33907865 [A/G] NM_001162429,NM_013374 PDCD6IP,PDCD6IP EXON Missense_M824V,Missense_M819V exm2261487 3 33926125 [A/G] exm2255988 3 34532947 [T/C] exm2263982 3 34692880 [A/C] exm2269613 3 34833364 [T/G] exm-rs10514688 3 34962669 [T/C] exm2269431 3 35316680 [T/C] exm2269432 3 35536237 [T/C] exm298136 3 35723305 [T/C] NM_001267616,NM_001267617,NM_016300,NM_001267618,NM_001025069,NM_001025068,NM_001267619,NM_198399 ARPP21,ARPP21,ARPP21,ARPP21,ARPP21,ARPP21,ARPP21,ARPP21 EXON Missense_T21M,Missense_T21M,Missense_T21M,Missense_T21M,Missense_T21M,Missense_T21M,Missense_T21M,Missense_T21M exm298167 3 35756952 [G/C] NM_001267617,NM_016300,NM_001267619 ARPP21,ARPP21,ARPP21 EXON Missense_L273V,Missense_L307V,Missense_L273V exm298182 3 35763323 [A/G] NM_001267617,NM_016300,NM_001267619 ARPP21,ARPP21,ARPP21 EXON Missense_A354T,Missense_A408T,Missense_A374T exm298187 3 35770840 [A/G] NM_001267617,NM_016300,NM_001267619 ARPP21,ARPP21,ARPP21 EXON Missense_R370H,Missense_R424H,Missense_R390H exm298191 3 35770896 [C/G] NM_001267617,NM_016300,NM_001267619 ARPP21,ARPP21,ARPP21 EXON Missense_P389A,Missense_P443A,Missense_P409A exm298199 3 35778697 [C/G] NM_001267617,NM_016300,NM_001267619 ARPP21,ARPP21,ARPP21 EXON Missense_T442S,Missense_T496S,Missense_T462S exm298213 3 35780852 [A/G] NM_001267617,NM_016300,NM_001267619 ARPP21,ARPP21,ARPP21 EXON Missense_R544Q,Missense_R563Q,Missense_R564Q exm2275659 3 35780921 [A/C] NM_001267617,NM_016300,NM_001267619 ARPP21,ARPP21,ARPP21 EXON Missense_P567Q,Missense_P586Q,Missense_P587Q exm298217 3 35780947 [A/G] NM_001267617,NM_016300,NM_001267619 ARPP21,ARPP21,ARPP21 EXON Missense_A576T,Missense_A595T,Missense_A596T exm298228 3 35785363 [A/C] NM_001267617,NM_016300,NM_001267619 ARPP21,ARPP21,ARPP21 EXON Nonsense_Y627X,Nonsense_Y646X,Nonsense_Y647X exm298229 3 35785377 [T/C] NM_001267617,NM_016300,NM_001267619 ARPP21,ARPP21,ARPP21 EXON Missense_T632M,Missense_T651M,Missense_T652M exm298234 3 35785416 [T/C] NM_001267617,NM_016300,NM_001267619 ARPP21,ARPP21,ARPP21 EXON Missense_A645V,Missense_A664V,Missense_A665V exm298245 3 35833993 [A/G] NM_001267617,NM_016300,NM_001267619 ARPP21,ARPP21,ARPP21 EXON Missense_V699I,Missense_V718I,Missense_V719I exm298246 3 35834005 [A/G] NM_001267617,NM_016300,NM_001267619 ARPP21,ARPP21,ARPP21 EXON Missense_T703A,Missense_T722A,Missense_T723A exm298254 3 35835320 [T/C] NM_001267617,NM_016300,NM_001267619 ARPP21,ARPP21,ARPP21 EXON Missense_P751L,Missense_P770L,Missense_P771L exm2264022 3 35926289 [A/C] exm-rs6799705 3 35982130 [T/C] exm2269433 3 36214197 [T/C] exm2261490 3 36377812 [A/G] exm298273 3 36422209 [T/C] NM_003149 STAC EXON Missense_P25L exm298277 3 36484871 [T/C] NM_003149 STAC EXON Nonsense_R43X exm298280 3 36484950 [T/G] NM_003149 STAC EXON Missense_M69R exm298282 3 36485022 [T/C] NM_003149 STAC EXON Missense_T93M exm298294 3 36526482 [A/G] NM_003149 STAC EXON Missense_R168Q exm298300 3 36527631 [A/G] NM_003149 STAC EXON Missense_G193S exm298314 3 36545903 [A/G] NM_003149 STAC EXON Missense_N262S exm298317 3 36545938 [A/G] NM_003149 STAC EXON Missense_I274V exm298322 3 36547286 [T/C] NM_003149 STAC EXON Missense_Y294H exm298328 3 36570223 [A/G] NM_003149 STAC EXON Missense_N319S exm2049896 3 36570347 [T/C] NM_003149 STAC EXON Missense_I327T exm298334 3 36570440 [A/G] NM_003149 STAC EXON Missense_C358Y exm298344 3 36756821 [A/C] NM_033403 DCLK3 EXON Missense_X649E exm298345 3 36756863 [A/G] NM_033403 DCLK3 EXON Missense_H635Y exm298346 3 36756867 [A/C] NM_033403 DCLK3 EXON Missense_E633D exm298347 3 36756884 [C/G] NM_033403 DCLK3 EXON Missense_V628L exm298376 3 36779144 [T/C] NM_033403 DCLK3 EXON Missense_R336Q exm298389 3 36779444 [A/G] NM_033403 DCLK3 EXON Missense_A236V exm298396 3 36779585 [T/G] NM_033403 DCLK3 EXON Missense_A189E exm2239408 3 36779638 [C/G] NM_033403 DCLK3 EXON Missense_M171I exm298399 3 36779691 [A/G] NM_033403 DCLK3 EXON Missense_R154C exm298404 3 36779753 [A/G] NM_033403 DCLK3 EXON Missense_S133L exm298408 3 36779841 [A/G] NM_033403 DCLK3 EXON Missense_P104S exm298409 3 36779865 [T/C] NM_033403 DCLK3 EXON Missense_G96R exm298417 3 36780080 [T/C] NM_033403 DCLK3 EXON Missense_R24Q exm298434 3 36871070 [A/G] NM_014831 TRANK1 EXON Missense_R2888C exm298437 3 36871124 [T/C] NM_014831 TRANK1 EXON Missense_I2870V exm298440 3 36872408 [A/G] NM_014831 TRANK1 EXON Missense_S2845L exm298449 3 36872541 [A/C] NM_014831 TRANK1 EXON Missense_V2801L exm298455 3 36872701 [G/C] NM_014831 TRANK1 EXON Missense_E2747D exm298458 3 36872741 [T/C] NM_014831 TRANK1 EXON Missense_R2734H exm298465 3 36872837 [T/C] NM_014831 TRANK1 EXON Missense_R2702H exm2273898 3 36872931 [A/G] NM_014831 TRANK1 EXON Missense_R2671W exm298469 3 36872939 [T/C] NM_014831 TRANK1 EXON Missense_Q2668R exm298474 3 36873092 [T/C] NM_014831 TRANK1 EXON Missense_R2617H exm298490 3 36873314 [T/C] NM_014831 TRANK1 EXON Missense_R2543H exm298504 3 36873494 [G/C] NM_014831 TRANK1 EXON Missense_S2483C exm298510 3 36873657 [T/G] NM_014831 TRANK1 EXON Missense_N2429H exm298528 3 36874071 [T/G] NM_014831 TRANK1 EXON Missense_Q2291K exm298537 3 36874292 [A/G] NM_014831 TRANK1 EXON Missense_M2217T exm298555 3 36874599 [T/C] NM_014831 TRANK1 EXON Missense_I2115V exm298586 3 36875279 [A/G] NM_014831 TRANK1 EXON Missense_S1888L exm298589 3 36875292 [T/C] NM_014831 TRANK1 EXON Missense_M1884V exm298596 3 36876362 [A/G] NM_014831 TRANK1 EXON Missense_C1808R exm298598 3 36876398 [T/C] NM_014831 TRANK1 EXON Missense_I1796V exm298647 3 36896741 [T/C] NM_014831 TRANK1 EXON Missense_N1447S exm298652 3 36896825 [A/G] NM_014831 TRANK1 EXON Missense_T1419M exm298653 3 36896849 [T/C] NM_014831 TRANK1 EXON Missense_N1411S exm298657 3 36896948 [A/G] NM_014831 TRANK1 EXON Missense_S1378L exm298680 3 36897597 [T/G] NM_014831 TRANK1 EXON Missense_Q1162K exm298688 3 36897812 [T/C] NM_014831 TRANK1 EXON Missense_E1090G exm298694 3 36897930 [A/G] NM_014831 TRANK1 EXON Missense_H1051Y exm298704 3 36898271 [T/G] NM_014831 TRANK1 EXON Missense_Q937P exm2255994 3 36898699 [A/G] NM_014831 TRANK1 EXON Synonymous_C794C exm298727 3 36898757 [A/G] NM_014831 TRANK1 EXON Missense_T775M exm298730 3 36898836 [T/C] NM_014831 TRANK1 EXON Missense_V749M exm298736 3 36898923 [T/C] NM_014831 TRANK1 EXON Missense_A720T exm298739 3 36898973 [A/G] NM_014831 TRANK1 EXON Missense_P703L exm298740 3 36898991 [T/C] NM_014831 TRANK1 EXON Missense_Q697R exm298762 3 36900362 [T/C] NM_014831 TRANK1 EXON Missense_S463G exm298769 3 36915712 [A/G] NM_014831 TRANK1 EXON Missense_V284A exm298772 3 36931397 [T/C] NM_014831 TRANK1 EXON Missense_R233H exm2255995 3 36940741 [T/G] NM_014831 TRANK1 EXON Synonymous_R54R exm2265437 3 36979042 [A/G] NM_014831 TRANK1 Silent exm298804 3 37033491 [A/C] NM_014805 EPM2AIP1 EXON Missense_A360S exm298817 3 37034021 [A/G] NM_014805 EPM2AIP1 EXON Missense_A183V exm2239419 3 37042541 [T/G] NM_001258273,NM_000249,NM_001258271,NM_001167619,NM_001167617,NM_001167618,NM_001258274 MLH1,MLH1,MLH1,MLH1,MLH1,MLH1,MLH1 EXON Silent,Synonymous_G101G,Synonymous_G101G,Silent,Silent,Silent,Silent exm298850 3 37045961 [T/A] NM_001258273,NM_000249,NM_001258271,NM_001167619,NM_001167617,NM_001167618,NM_001258274 MLH1,MLH1,MLH1,MLH1,MLH1,MLH1,MLH1 EXON Silent,Missense_Y126N,Missense_Y126N,Silent,Missense_Y28N,Silent,Silent exm298851 3 37048495 [G/C] NM_001258273,NM_000249,NM_001258271,NM_001167619,NM_001167617,NM_001167618,NM_001258274 MLH1,MLH1,MLH1,MLH1,MLH1,MLH1,MLH1 EXON Silent,Missense_D132H,Missense_D132H,Silent,Missense_D34H,Silent,Silent exm298863 3 37053550 [A/G] NM_001258273,NM_000249,NM_001258271,NM_001167619,NM_001167617,NM_001167618,NM_001258274 MLH1,MLH1,MLH1,MLH1,MLH1,MLH1,MLH1 EXON Silent,Missense_V213M,Missense_V213M,Silent,Missense_V115M,Silent,Silent exm298864 3 37053562 [T/C] NM_001258273,NM_000249,NM_001258271,NM_001167619,NM_001167617,NM_001167618,NM_001258274 MLH1,MLH1,MLH1,MLH1,MLH1,MLH1,MLH1 EXON Silent,Missense_R217C,Missense_R217C,Silent,Missense_R119C,Silent,Silent exm298865 3 37053568 [A/G] NM_001258273,NM_000249,NM_001258271,NM_001167619,NM_001167617,NM_001167618,NM_001258274 MLH1,MLH1,MLH1,MLH1,MLH1,MLH1,MLH1 EXON Silent,Missense_I219V,Missense_I219V,Silent,Missense_I121V,Silent,Silent exm298871 3 37059009 [A/G] NM_001258273,NM_000249,NM_001258271,NM_001167619,NM_001167617,NM_001167618,NM_001258274 MLH1,MLH1,MLH1,MLH1,MLH1,MLH1,MLH1 EXON Missense_E27G,Missense_E268G,Missense_E268G,Missense_E27G,Missense_E170G,Missense_E27G,Missense_E27G exm298881 3 37061893 [T/C] NM_001258273,NM_000249,NM_001258271,NM_001167619,NM_001167617,NM_001167618,NM_001258274 MLH1,MLH1,MLH1,MLH1,MLH1,MLH1,MLH1 EXON Missense_V85A,Missense_V326A,Missense_V326A,Missense_V85A,Missense_V228A,Missense_V85A,Missense_V85A exm298887 3 37067225 [A/G] NM_001258273,NM_000249,NM_001258271,NM_001167619,NM_001167617,NM_001167618,NM_001258274 MLH1,MLH1,MLH1,MLH1,MLH1,MLH1,MLH1 EXON Missense_Y138C,Missense_Y379C,Missense_Y379C,Missense_Y138C,Missense_Y281C,Missense_Y138C,Missense_Y138C exm298892 3 37067255 [A/G] NM_001258273,NM_000249,NM_001258271,NM_001167619,NM_001167617,NM_001167618,NM_001258274 MLH1,MLH1,MLH1,MLH1,MLH1,MLH1,MLH1 EXON Missense_R148Q,Missense_R389Q,Missense_R389Q,Missense_R148Q,Missense_R291Q,Missense_R148Q,Missense_R148Q exm298894 3 37067306 [A/G] NM_001258273,NM_000249,NM_001258271,NM_001167619,NM_001167617,NM_001167618,NM_001258274 MLH1,MLH1,MLH1,MLH1,MLH1,MLH1,MLH1 EXON Missense_S165N,Missense_S406N,Missense_S406N,Missense_S165N,Missense_S308N,Missense_S165N,Missense_S165N exm298899 3 37067410 [A/G] NM_001258273,NM_000249,NM_001258271,NM_001167619,NM_001167617,NM_001167618,NM_001258274 MLH1,MLH1,MLH1,MLH1,MLH1,MLH1,MLH1 EXON Missense_A200T,Missense_A441T,Missense_A441T,Missense_A200T,Missense_A343T,Missense_A200T,Missense_A200T exm298901 3 37067468 [A/C] NM_001258273,NM_000249,NM_001258271,NM_001167619,NM_001167617,NM_001167618,NM_001258274 MLH1,MLH1,MLH1,MLH1,MLH1,MLH1,MLH1 EXON Missense_E219A,Missense_E460A,Missense_E460A,Missense_E219A,Missense_E362A,Missense_E219A,Missense_E219A exm298902 3 37070285 [C/G] NM_001258273,NM_000249,NM_001258271,NM_001167619,NM_001167617,NM_001167618,NM_001258274 MLH1,MLH1,MLH1,MLH1,MLH1,MLH1,MLH1 EXON Missense_R233G,Missense_R474G,Missense_R474G,Missense_R233G,Missense_R376G,Missense_R233G,Missense_R233G exm298916 3 37089011 [A/G] NM_001258273,NM_000249,NM_001258271,NM_001167619,NM_001167617,NM_001167618,NM_001258274 MLH1,MLH1,MLH1,MLH1,MLH1,MLH1,MLH1 EXON Missense_E337G,Missense_E578G,Missense_E578G,Missense_E337G,Missense_E480G,Missense_E337G,Missense_E337G exm298920 3 37089098 [T/A] NM_001258273,NM_000249,NM_001258271,NM_001167619,NM_001167617,NM_001167618,NM_001258274 MLH1,MLH1,MLH1,MLH1,MLH1,MLH1,MLH1 EXON Missense_L366H,Missense_L607H,Missense_L607H,Missense_L366H,Missense_L509H,Missense_L366H,Missense_L366H exm298931 3 37090050 [A/G] NM_001258273,NM_000249,NM_001258271,NM_001167619,NM_001167617,NM_001167618,NM_001258274 MLH1,MLH1,MLH1,MLH1,MLH1,MLH1,MLH1 EXON Missense_V406M,Missense_V647M,Silent,Missense_V406M,Missense_V549M,Missense_V406M,Missense_V406M exm298933 3 37090074 [A/G] NM_001258273,NM_000249,NM_001258271,NM_001167619,NM_001167617,NM_001167618,NM_001258274 MLH1,MLH1,MLH1,MLH1,MLH1,MLH1,MLH1 EXON Missense_I414V,Missense_I655V,Silent,Missense_I414V,Missense_I557V,Missense_I414V,Missense_I414V exm298938 3 37090471 [A/G] NM_001258273,NM_000249,NM_001258271,NM_001167619,NM_001167617,NM_001167618,NM_001258274 MLH1,MLH1,MLH1,MLH1,MLH1,MLH1,MLH1 EXON Missense_Q448R,Missense_Q689R,Silent,Missense_Q448R,Missense_Q591R,Missense_Q448R,Missense_Q448R exm298939 3 37090485 [T/G] NM_001258273,NM_000249,NM_001258271,NM_001167619,NM_001167617,NM_001167618,NM_001258274 MLH1,MLH1,MLH1,MLH1,MLH1,MLH1,MLH1 EXON Nonsense_E453X,Nonsense_E694X,Silent,Nonsense_E453X,Nonsense_E596X,Nonsense_E453X,Nonsense_E453X exm298940 3 37090486 [A/C] NM_001258273,NM_000249,NM_001258271,NM_001167619,NM_001167617,NM_001167618,NM_001258274 MLH1,MLH1,MLH1,MLH1,MLH1,MLH1,MLH1 EXON Missense_E453A,Missense_E694A,Silent,Missense_E453A,Missense_E596A,Missense_E453A,Missense_E453A exm298942 3 37092019 [A/G] NM_001258273,NM_000249,NM_001258271,NM_001167619,NM_001167617,NM_001167618,NM_001258274 MLH1,MLH1,MLH1,MLH1,MLH1,MLH1,MLH1 EXON Missense_V475M,Missense_V716M,Missense_V647M,Missense_V475M,Missense_V618M,Missense_V475M,Missense_V475M exm298943 3 37092025 [T/C] NM_001258273,NM_000249,NM_001258271,NM_001167619,NM_001167617,NM_001167618,NM_001258274 MLH1,MLH1,MLH1,MLH1,MLH1,MLH1,MLH1 EXON Missense_H477Y,Missense_H718Y,Missense_H649Y,Missense_H477Y,Missense_H620Y,Missense_H477Y,Missense_H477Y exm298966 3 37096000 [A/G] NM_001134369,NM_006309,NM_017724 LRRFIP2,LRRFIP2,LRRFIP2 EXON Missense_R356W,Missense_R653W,Missense_R332W exm298972 3 37096638 [A/G] NM_001134369,NM_006309,NM_017724 LRRFIP2,LRRFIP2,LRRFIP2 EXON Missense_I333T,Missense_I630T,Missense_I309T exm298974 3 37100359 [A/C] NM_001134369,NM_006309,NM_017724 LRRFIP2,LRRFIP2,LRRFIP2 EXON Missense_C301G,Missense_C598G,Missense_C277G exm298975 3 37100367 [T/C] NM_001134369,NM_006309,NM_017724 LRRFIP2,LRRFIP2,LRRFIP2 EXON Missense_R298Q,Missense_R595Q,Missense_R274Q exm2050023 3 37100403 [T/C] NM_001134369,NM_006309,NM_017724 LRRFIP2,LRRFIP2,LRRFIP2 Silent,Silent,Silent exm298980 3 37105271 [A/G] NM_001134369,NM_006309,NM_017724 LRRFIP2,LRRFIP2,LRRFIP2 EXON Nonsense_R274X,Nonsense_R571X,Nonsense_R250X exm298986 3 37107722 [A/G] NM_001134369,NM_006309,NM_017724 LRRFIP2,LRRFIP2,LRRFIP2 EXON Silent,Missense_T520M,Silent exm298992 3 37116538 [A/G] NM_001134369,NM_006309,NM_017724 LRRFIP2,LRRFIP2,LRRFIP2 EXON Missense_R218W,Missense_R450W,Missense_R194W exm298994 3 37125165 [A/T] NM_001134369,NM_006309,NM_017724 LRRFIP2,LRRFIP2,LRRFIP2 EXON Missense_M182L,Missense_M414L,Missense_M158L exm299003 3 37136284 [T/C] NM_001134369,NM_006309,NM_017724 LRRFIP2,LRRFIP2,LRRFIP2 EXON Missense_R113Q,Missense_R345Q,Missense_R113Q exm299009 3 37144415 [T/G] NM_001134369,NM_006309,NM_017724 LRRFIP2,LRRFIP2,LRRFIP2 EXON Silent,Missense_S291R,Silent exm299011 3 37144422 [A/G] NM_001134369,NM_006309,NM_017724 LRRFIP2,LRRFIP2,LRRFIP2 EXON Silent,Missense_L289S,Silent exm299017 3 37144480 [A/G] NM_001134369,NM_006309,NM_017724 LRRFIP2,LRRFIP2,LRRFIP2 EXON Silent,Missense_R270C,Silent exm299033 3 37150133 [A/G] NM_001134369,NM_006309,NM_017724 LRRFIP2,LRRFIP2,LRRFIP2 EXON Silent,Nonsense_R218X,Silent exm299041 3 37151052 [A/G] NM_001134369,NM_006309,NM_017724 LRRFIP2,LRRFIP2,LRRFIP2 EXON Silent,Missense_T192I,Silent exm299043 3 37151157 [T/C] NM_001134369,NM_006309,NM_017724 LRRFIP2,LRRFIP2,LRRFIP2 EXON Silent,Missense_Y184C,Silent exm299051 3 37152519 [A/G] NM_001134369,NM_006309,NM_017724 LRRFIP2,LRRFIP2,LRRFIP2 EXON Silent,Missense_L159P,Silent exm299057 3 37154417 [T/C] NM_001134369,NM_006309,NM_017724 LRRFIP2,LRRFIP2,LRRFIP2 EXON Silent,Missense_K143E,Silent exm299065 3 37163011 [A/G] NM_001134369,NM_006309,NM_017724 LRRFIP2,LRRFIP2,LRRFIP2 EXON Silent,Missense_L101S,Silent exm299074 3 37163152 [A/G] NM_001134369,NM_006309,NM_017724 LRRFIP2,LRRFIP2,LRRFIP2 EXON Silent,Missense_R87W,Silent exm299075 3 37163155 [A/G] NM_001134369,NM_006309,NM_017724 LRRFIP2,LRRFIP2,LRRFIP2 EXON Silent,Missense_H86Y,Silent exm2050061 3 37163175 [A/G] NM_001134369,NM_006309,NM_017724 LRRFIP2,LRRFIP2,LRRFIP2 EXON Silent,Missense_S79L,Silent exm-rs7631605 3 37234589 [T/C] exm299094 3 37323459 [T/C] NM_002078,NM_001172713 GOLGA4,GOLGA4 EXON Missense_T58I,Missense_T80I exm299095 3 37323465 [T/C] NM_002078,NM_001172713 GOLGA4,GOLGA4 EXON Missense_S60F,Missense_S82F exm299096 3 37323488 [T/C] NM_002078,NM_001172713 GOLGA4,GOLGA4 EXON Missense_R68W,Missense_R90W exm299107 3 37323645 [T/C] NM_002078,NM_001172713 GOLGA4,GOLGA4 EXON Missense_M120T,Missense_M142T exm299111 3 37323711 [A/G] NM_002078,NM_001172713 GOLGA4,GOLGA4 EXON Missense_R142Q,Missense_R164Q exm299130 3 37337681 [T/A] NM_002078,NM_001172713 GOLGA4,GOLGA4 EXON Missense_E262V,Missense_E284V exm299131 3 37337707 [T/G] NM_002078,NM_001172713 GOLGA4,GOLGA4 EXON Missense_V271L,Missense_V293L exm2273899 3 37340833 [A/G] NM_002078,NM_001172713 GOLGA4,GOLGA4 EXON Missense_N353D,Missense_N375D exm299141 3 37343751 [T/C] NM_002078,NM_001172713 GOLGA4,GOLGA4 EXON Missense_R388C,Missense_R410C exm299151 3 37357030 [T/C] NM_002078,NM_001172713 GOLGA4,GOLGA4 EXON Missense_R452C,Missense_R474C exm299152 3 37357033 [A/G] NM_002078,NM_001172713 GOLGA4,GOLGA4 EXON Missense_I453V,Missense_I475V exm299156 3 37360564 [A/G] NM_002078,NM_001172713 GOLGA4,GOLGA4 EXON Missense_E475G,Missense_E497G exm299164 3 37363353 [T/G] NM_002078,NM_001172713 GOLGA4,GOLGA4 EXON Missense_Q559H,Missense_Q581H exm299167 3 37365169 [A/G] NM_002078,NM_001172713 GOLGA4,GOLGA4 EXON Missense_K598E,Missense_K620E exm299168 3 37365173 [A/T] NM_002078,NM_001172713 GOLGA4,GOLGA4 EXON Missense_N599I,Missense_N621I exm299171 3 37365215 [A/G] NM_002078,NM_001172713 GOLGA4,GOLGA4 EXON Missense_K613R,Missense_K635R exm299172 3 37365275 [T/A] NM_002078,NM_001172713 GOLGA4,GOLGA4 EXON Missense_V633D,Missense_V655D exm299178 3 37365476 [A/G] NM_002078,NM_001172713 GOLGA4,GOLGA4 EXON Missense_R700H,Missense_R722H exm2050106 3 37365599 [A/G] NM_002078,NM_001172713 GOLGA4,GOLGA4 EXON Missense_K741R,Missense_K763R exm2050111 3 37365878 [A/C] NM_002078,NM_001172713 GOLGA4,GOLGA4 EXON Missense_E834A,Missense_E856A exm299190 3 37365968 [A/G] NM_002078,NM_001172713 GOLGA4,GOLGA4 EXON Missense_Q864R,Missense_Q886R exm299198 3 37366288 [A/C] NM_002078,NM_001172713 GOLGA4,GOLGA4 EXON Missense_K971Q,Missense_K993Q exm2239428 3 37366343 [T/C] NM_002078,NM_001172713 GOLGA4,GOLGA4 EXON Missense_A989V,Missense_A1011V exm299207 3 37366459 [A/C] NM_002078,NM_001172713 GOLGA4,GOLGA4 EXON Missense_Q1028K,Missense_Q1050K exm299215 3 37366598 [T/C] NM_002078,NM_001172713 GOLGA4,GOLGA4 EXON Missense_A1074V,Missense_A1096V exm299217 3 37366667 [T/C] NM_002078,NM_001172713 GOLGA4,GOLGA4 EXON Missense_L1097P,Missense_L1119P exm299223 3 37366882 [T/C] NM_002078,NM_001172713 GOLGA4,GOLGA4 EXON Missense_R1169W,Missense_R1191W exm299226 3 37366946 [T/C] NM_002078,NM_001172713 GOLGA4,GOLGA4 EXON Missense_S1190F,Missense_S1212F exm299228 3 37366956 [T/A] NM_002078,NM_001172713 GOLGA4,GOLGA4 EXON Missense_E1193D,Missense_E1215D exm299229 3 37366967 [A/G] NM_002078,NM_001172713 GOLGA4,GOLGA4 EXON Missense_K1197R,Missense_K1219R exm299233 3 37367020 [A/G] NM_002078,NM_001172713 GOLGA4,GOLGA4 EXON Missense_I1215V,Missense_I1237V exm299243 3 37367159 [A/C] NM_002078,NM_001172713 GOLGA4,GOLGA4 EXON Missense_K1261T,Missense_K1283T exm299246 3 37367249 [A/C] NM_002078,NM_001172713 GOLGA4,GOLGA4 EXON Missense_S1291Y,Missense_S1313Y exm299250 3 37367386 [A/G] NM_002078,NM_001172713 GOLGA4,GOLGA4 EXON Missense_K1337E,Missense_K1359E exm299254 3 37367524 [T/C] NM_002078,NM_001172713 GOLGA4,GOLGA4 EXON Missense_L1383F,Missense_L1405F exm2255997 3 37367547 [A/C] NM_002078,NM_001172713 GOLGA4,GOLGA4 EXON Synonymous_S1390S,Synonymous_S1412S exm299257 3 37367547 [A/C] NM_002078,NM_001172713 GOLGA4,GOLGA4 EXON Synonymous_S1390S,Synonymous_S1412S exm299267 3 37367856 [A/C] NM_002078,NM_001172713 GOLGA4,GOLGA4 EXON Missense_K1493N,Missense_K1515N exm299271 3 37367989 [A/G] NM_002078,NM_001172713 GOLGA4,GOLGA4 EXON Missense_T1538A,Missense_T1560A exm299273 3 37368032 [A/G] NM_002078,NM_001172713 GOLGA4,GOLGA4 EXON Missense_N1552S,Missense_N1574S exm299275 3 37368193 [A/G] NM_002078,NM_001172713 GOLGA4,GOLGA4 EXON Missense_K1606E,Missense_K1628E exm299277 3 37368206 [A/G] NM_002078,NM_001172713 GOLGA4,GOLGA4 EXON Missense_H1610R,Missense_H1632R exm299278 3 37368209 [T/G] NM_002078,NM_001172713 GOLGA4,GOLGA4 EXON Missense_V1611G,Missense_V1633G exm299282 3 37368395 [A/G] NM_002078,NM_001172713 GOLGA4,GOLGA4 EXON Missense_H1673R,Missense_H1695R exm299291 3 37368704 [A/G] NM_002078,NM_001172713 GOLGA4,GOLGA4 EXON Missense_R1776H,Missense_R1798H exm299292 3 37368710 [A/T] NM_002078,NM_001172713 GOLGA4,GOLGA4 EXON Missense_I1778K,Missense_I1800K exm299295 3 37368755 [A/T] NM_002078,NM_001172713 GOLGA4,GOLGA4 EXON Missense_M1793K,Missense_M1815K exm299297 3 37368758 [T/C] NM_002078,NM_001172713 GOLGA4,GOLGA4 EXON Missense_I1794T,Missense_I1816T exm299298 3 37368808 [A/G] NM_002078,NM_001172713 GOLGA4,GOLGA4 EXON Missense_I1811V,Missense_I1833V exm2050125 3 37368811 [A/G] NM_002078,NM_001172713 GOLGA4,GOLGA4 EXON Missense_V1812I,Missense_V1834I exm299305 3 37368961 [T/C] NM_002078,NM_001172713 GOLGA4,GOLGA4 EXON Missense_C1862R,Missense_C1884R exm299307 3 37369008 [T/G] NM_002078,NM_001172713 GOLGA4,GOLGA4 EXON Missense_L1877F,Missense_L1899F exm299310 3 37369132 [A/G] NM_002078,NM_001172713 GOLGA4,GOLGA4 EXON Missense_S1919G,Missense_S1941G exm299321 3 37369984 [T/C] NM_002078,NM_001172713 GOLGA4,GOLGA4 EXON Missense_A2006V,Missense_A2028V exm299333 3 37370566 [T/A] NM_002078,NM_001172713 GOLGA4,GOLGA4 EXON Missense_R2058S,Missense_R2080S exm299336 3 37376547 [T/C] NM_002078,NM_001172713 GOLGA4,GOLGA4 EXON Missense_R2066C,Missense_R2088C exm2050137 3 37388702 [T/C] NM_002078,NM_001172713 GOLGA4,GOLGA4 EXON Missense_T2164M,Missense_T2179M exm299362 3 37396678 [A/G] NM_002078,NM_001172713 GOLGA4,GOLGA4 EXON Missense_M2221I,Missense_M2236I exm299371 3 37458758 [A/C] NM_178342,NM_178339 C3orf35,C3orf35 EXON Missense_M1L,Missense_M1L exm299375 3 37458846 [A/G] NM_178342,NM_178339 C3orf35,C3orf35 EXON Missense_R30Q,Missense_R30Q exm299376 3 37458851 [T/C] NM_178342,NM_178339 C3orf35,C3orf35 EXON Missense_F32L,Missense_F32L exm299380 3 37458926 [A/G] NM_178342,NM_178339 C3orf35,C3orf35 EXON Missense_G57S,Missense_G57S exm299386 3 37458998 [A/G] NM_178342,NM_178339 C3orf35,C3orf35 EXON Missense_V81M,Silent exm299391 3 37459028 [T/G] NM_178342,NM_178339 C3orf35,C3orf35 EXON Missense_F91V,Silent exm299395 3 37476419 [T/C] NM_178339 C3orf35 EXON Missense_I104T exm299397 3 37476429 [A/C] NM_178339 C3orf35 EXON Missense_H107Q exm299399 3 37476484 [T/G] NM_178339 C3orf35 EXON Missense_G126C exm299402 3 37476545 [T/C] NM_178339 C3orf35 EXON Missense_P146L exm299404 3 37476583 [A/G] NM_178339 C3orf35 EXON Missense_A159T exm299415 3 37512596 [A/G] NM_002207 ITGA9 EXON Missense_R95Q exm299421 3 37514860 [T/C] NM_002207 ITGA9 EXON Missense_T110M exm2269434 3 37515341 [T/C] NM_002207 ITGA9 Silent exm-rs189897 3 37518545 [A/T] NM_002207 ITGA9 Silent exm299437 3 37536043 [T/C] NM_002207 ITGA9 EXON Missense_A199V exm2255998 3 37536056 [T/C] NM_002207 ITGA9 EXON Synonymous_T203T exm299440 3 37544736 [T/C] NM_002207 ITGA9 EXON Missense_T227M exm299466 3 37559040 [A/G] NM_002207 ITGA9 EXON Missense_N361D exm299474 3 37560819 [A/G] NM_002207 ITGA9 EXON Missense_G404S exm299488 3 37574852 [T/C] NM_002207 ITGA9 EXON Missense_S474F exm299494 3 37574951 [A/G] NM_002207 ITGA9 EXON Missense_G507E exm299499 3 37583942 [A/G] NM_002207 ITGA9 EXON Missense_V519M exm299500 3 37583948 [A/G] NM_002207 ITGA9 EXON Missense_K521E exm299504 3 37584044 [A/G] NM_002207 ITGA9 EXON Missense_E553K exm299506 3 37584054 [A/G] NM_002207 ITGA9 EXON Missense_R556H exm299508 3 37584062 [A/G] NM_002207 ITGA9 EXON Missense_V559M exm-rs1155741 3 37627112 [T/C] NM_002207 ITGA9 Silent exm299512 3 37670678 [T/C] NM_002207 ITGA9 EXON Missense_R564W exm299513 3 37670679 [A/G] NM_002207 ITGA9 EXON Missense_R564Q exm2050182 3 37670789 [T/C] NM_002207 ITGA9 EXON Missense_R601C exm299525 3 37695260 [A/G] NM_002207 ITGA9 EXON Missense_Q632R exm299529 3 37725370 [T/C] NM_002207 ITGA9 EXON Missense_T644I exm299532 3 37725466 [A/G] NM_002207 ITGA9 EXON Missense_N676S exm299537 3 37774225 [A/G] NM_002207 ITGA9 EXON Missense_E697G exm299551 3 37778407 [A/G] NM_002207 ITGA9 EXON Missense_V723M exm299562 3 37785454 [A/G] NM_002207 ITGA9 EXON Missense_V788M exm299572 3 37818912 [A/C] NM_002207 ITGA9 EXON Missense_F857L exm2239438 3 37826568 [T/C] NM_002207 ITGA9 EXON Missense_T963M exm299589 3 37860395 [A/G] NM_002207 ITGA9 EXON Missense_R1008H exm-rs9311171 3 37996477 [T/G] NM_005808,NM_001008392 CTDSPL,CTDSPL Silent,Silent exm2261492 3 38000885 [A/G] NM_005808,NM_001008392 CTDSPL,CTDSPL Silent,Silent exm299615 3 38006068 [A/G] NM_005808,NM_001008392 CTDSPL,CTDSPL EXON Missense_A81T,Missense_A92T exm299616 3 38006111 [A/G] NM_005808,NM_001008392 CTDSPL,CTDSPL EXON Missense_K95R,Missense_K106R exm2050220 3 38017281 [T/C] NM_005808,NM_001008392 CTDSPL,CTDSPL EXON Missense_R190C,Missense_R201C exm299633 3 38022254 [A/G] NM_005808,NM_001008392 CTDSPL,CTDSPL EXON Missense_D232N,Missense_D243N exm299634 3 38022264 [T/C] NM_005808,NM_001008392 CTDSPL,CTDSPL EXON Missense_T235M,Missense_T246M exm299662 3 38035950 [A/G] NM_015873 VILL EXON Missense_G112R exm299665 3 38037265 [T/A] NM_015873 VILL EXON Missense_H126L exm299668 3 38038568 [A/G] NM_015873 VILL EXON Missense_V151M exm2273900 3 38038990 [A/G] NM_015873 VILL EXON Missense_Y193C exm2050244 3 38039157 [A/G] NM_015873 VILL EXON Missense_A249T exm299690 3 38039654 [G/C] NM_015873 VILL EXON Missense_E280Q exm299692 3 38039809 [A/G] NM_015873 VILL EXON Missense_R299H exm299699 3 38040522 [A/C] NM_015873 VILL EXON Missense_N354K exm299706 3 38042947 [T/G] NM_015873 VILL EXON Missense_V395L exm299708 3 38042993 [A/G] NM_015873 VILL EXON Missense_R410H exm299709 3 38042995 [T/C] NM_015873 VILL EXON Missense_H411Y exm299712 3 38043061 [T/C] NM_015873 VILL EXON Nonsense_Q433X exm299715 3 38043199 [T/C] NM_015873 VILL EXON Nonsense_Q443X exm299716 3 38043231 [C/G] NM_015873 VILL EXON Missense_N453K exm299723 3 38043885 [A/C] NM_015873 VILL Silent exm299734 3 38044690 [A/G] NM_015873 VILL EXON Missense_R564Q exm299737 3 38044729 [T/C] NM_015873 VILL EXON Missense_T577M exm299745 3 38045770 [C/G] NM_015873 VILL EXON Missense_F610L exm299763 3 38047428 [T/C] NM_015873 VILL EXON Missense_I699T exm299773 3 38047954 [C/G] NM_015873 VILL EXON Missense_L740F exm299774 3 38047971 [T/C] NM_015873 VILL EXON Missense_P746L exm299781 3 38048061 [A/C] NM_015873 VILL EXON Nonsense_S776X exm299789 3 38048158 [A/C] NM_015873 VILL EXON Missense_D808E exm299796 3 38048481 [A/G] NM_015873 VILL EXON Missense_E836K exm299797 3 38048503 [T/C] NM_015873 VILL EXON Missense_T843M exm2256000 3 38048513 [A/G] NM_015873 VILL EXON Synonymous_Q846Q exm299798 3 38048513 [A/G] NM_015873 VILL EXON Synonymous_Q846Q exm299807 3 38049310 [T/C] NM_001130964,NR_024071,NM_006225 PLCD1,PLCD1,PLCD1 EXON Missense_Q763R,Silent,Missense_Q742R exm299822 3 38049653 [A/T] NM_001130964,NR_024071,NM_006225 PLCD1,PLCD1,PLCD1 EXON Synonymous_G700G,Silent,Synonymous_G679G exm299824 3 38049774 [A/C] NM_001130964,NR_024071,NM_006225 PLCD1,PLCD1,PLCD1 EXON Missense_V684L,Silent,Missense_V663L exm299834 3 38050025 [T/C] NM_001130964,NR_024071,NM_006225 PLCD1,PLCD1,PLCD1 EXON Missense_R630Q,Silent,Missense_R609Q exm299842 3 38050537 [A/C] NM_001130964,NR_024071,NM_006225 PLCD1,PLCD1,PLCD1 EXON Missense_Q594H,Silent,Missense_Q573H exm299851 3 38050644 [T/C] NM_001130964,NR_024071,NM_006225 PLCD1,PLCD1,PLCD1 EXON Missense_G559S,Silent,Missense_G538S exm299854 3 38050781 [A/G] NM_001130964,NR_024071,NM_006225 PLCD1,PLCD1,PLCD1 EXON Nonsense_R551X,Silent,Nonsense_R530X exm2050309 3 38051432 [C/G] NM_001130964,NR_024071,NM_006225 PLCD1,PLCD1,PLCD1 EXON Missense_P438R,Silent,Missense_P417R exm299877 3 38051487 [A/G] NM_001130964,NR_024071,NM_006225 PLCD1,PLCD1,PLCD1 EXON Missense_R420C,Silent,Missense_R399C exm299895 3 38051967 [A/G] NM_001130964,NR_024071,NM_006225 PLCD1,PLCD1,PLCD1 EXON Missense_R314C,Silent,Missense_R293C exm299900 3 38052041 [T/C] NM_001130964,NR_024071,NM_006225 PLCD1,PLCD1,PLCD1 EXON Missense_R289Q,Silent,Missense_R268Q exm2050317 3 38052047 [A/G] NM_001130964,NR_024071,NM_006225 PLCD1,PLCD1,PLCD1 EXON Missense_A287V,Silent,Missense_A266V exm299903 3 38052725 [T/C] NM_001130964,NR_024071,NM_006225 PLCD1,PLCD1,PLCD1 EXON Missense_R278H,Silent,Missense_R257H exm299912 3 38052804 [T/C] NM_001130964,NR_024071,NM_006225 PLCD1,PLCD1,PLCD1 EXON Missense_D252N,Silent,Missense_D231N exm299921 3 38052845 [T/G] NM_001130964,NR_024071,NM_006225 PLCD1,PLCD1,PLCD1 EXON Missense_T238N,Silent,Missense_T217N exm299925 3 38052900 [T/C] NM_001130964,NR_024071,NM_006225 PLCD1,PLCD1,PLCD1 EXON Missense_E220K,Silent,Missense_E199K exm299930 3 38053084 [T/G] NM_001130964,NR_024071,NM_006225 PLCD1,PLCD1,PLCD1 EXON Missense_K191T,Silent,Missense_K170T exm299948 3 38058171 [T/C] NM_001130964,NR_024071,NM_006225 PLCD1,PLCD1,PLCD1 EXON Missense_R101H,Silent,Missense_R80H exm299964 3 38065843 [T/C] NM_001130964,NR_024071,NM_006225 PLCD1,PLCD1,PLCD1 EXON Missense_N28D,Silent,Silent exm299977 3 38080763 [T/C] NM_007335,NM_007337 DLEC1,DLEC1 EXON Missense_T16I,Missense_T16I exm299983 3 38080952 [T/G] NM_007335,NM_007337 DLEC1,DLEC1 EXON Missense_L79R,Missense_L79R exm299984 3 38080966 [T/C] NM_007335,NM_007337 DLEC1,DLEC1 EXON Missense_P84S,Missense_P84S exm299985 3 38080978 [T/C] NM_007335,NM_007337 DLEC1,DLEC1 EXON Missense_R88C,Missense_R88C exm299989 3 38087037 [T/C] NM_007335,NM_007337 DLEC1,DLEC1 EXON Missense_R139W,Missense_R139W exm299998 3 38087142 [A/G] NM_007335,NM_007337 DLEC1,DLEC1 EXON Missense_A174T,Missense_A174T exm300002 3 38087184 [C/G] NM_007335,NM_007337 DLEC1,DLEC1 EXON Missense_V188L,Missense_V188L exm2256001 3 38088279 [T/C] NM_007335,NM_007337 DLEC1,DLEC1 Silent,Silent exm300004 3 38101245 [T/C] NM_007335,NM_007337 DLEC1,DLEC1 EXON Missense_S192F,Missense_S192F exm300005 3 38101248 [A/G] NM_007335,NM_007337 DLEC1,DLEC1 EXON Missense_R193K,Missense_R193K exm300020 3 38103713 [A/G] NM_007335,NM_007337 DLEC1,DLEC1 EXON Missense_V243I,Missense_V243I exm300021 3 38103776 [A/G] NM_007335,NM_007337 DLEC1,DLEC1 EXON Missense_E264K,Missense_E264K exm300023 3 38103849 [A/G] NM_007335,NM_007337 DLEC1,DLEC1 EXON Missense_E288G,Missense_E288G exm300033 3 38104256 [T/C] NM_007335,NM_007337 DLEC1,DLEC1 EXON Missense_P353L,Missense_P353L exm300036 3 38105366 [C/G] NM_007335,NM_007337 DLEC1,DLEC1 EXON Missense_P377A,Missense_P377A exm300059 3 38125659 [T/C] NM_007335,NM_007337 DLEC1,DLEC1 EXON Missense_A395V,Missense_A395V exm300063 3 38125685 [T/C] NM_007335,NM_007337 DLEC1,DLEC1 EXON Missense_R404C,Missense_R404C exm300064 3 38125686 [A/G] NM_007335,NM_007337 DLEC1,DLEC1 EXON Missense_R404H,Missense_R404H exm2239446 3 38127851 [A/C] NM_007335,NM_007337 DLEC1,DLEC1 EXON Missense_P519T,Missense_P519T exm300099 3 38129857 [T/C] NM_007335,NM_007337 DLEC1,DLEC1 EXON Missense_P548L,Missense_P548L exm2050378 3 38135258 [T/C] NM_007335,NM_007337 DLEC1,DLEC1 EXON Missense_T640M,Missense_T640M exm300120 3 38136374 [T/G] NM_007335,NM_007337 DLEC1,DLEC1 EXON Missense_V642L,Missense_V642L exm300123 3 38136401 [A/G] NM_007335,NM_007337 DLEC1,DLEC1 EXON Missense_M651V,Missense_M651V exm300129 3 38136476 [A/G] NM_007335,NM_007337 DLEC1,DLEC1 EXON Missense_E676K,Missense_E676K exm2050382 3 38137383 [A/G] NM_007335,NM_007337 DLEC1,DLEC1 EXON Missense_R706K,Missense_R706K exm300141 3 38138149 [T/C] NM_007335,NM_007337 DLEC1,DLEC1 EXON Missense_F754S,Missense_F754S exm300152 3 38138754 [A/G] NM_007335,NM_007337 DLEC1,DLEC1 EXON Missense_T808A,Missense_T808A exm300159 3 38139120 [A/G] NM_007335,NM_007337 DLEC1,DLEC1 EXON Missense_V853I,Missense_V853I exm2256002 3 38139282 [T/C] NM_007335,NM_007337 DLEC1,DLEC1 EXON Synonymous_L871L,Synonymous_L871L exm300165 3 38139282 [T/C] NM_007335,NM_007337 DLEC1,DLEC1 EXON Synonymous_L871L,Synonymous_L871L exm2256003 3 38139300 [T/C] NM_007335,NM_007337 DLEC1,DLEC1 EXON Synonymous_A877A,Synonymous_A877A exm2275660 3 38139320 [A/G] NM_007335,NM_007337 DLEC1,DLEC1 EXON Missense_R884Q,Missense_R884Q exm300178 3 38141882 [A/G] NM_007335,NM_007337 DLEC1,DLEC1 EXON Missense_V944I,Missense_V944I exm2050401 3 38149133 [A/G] NM_007335,NM_007337 DLEC1,DLEC1 EXON Missense_V975M,Missense_V975M exm300187 3 38149943 [A/T] NM_007335,NM_007337 DLEC1,DLEC1 EXON Missense_K1022N,Missense_K1022N exm300190 3 38151053 [A/G] NM_007335,NM_007337 DLEC1,DLEC1 EXON Missense_S1087N,Missense_S1087N exm300193 3 38151601 [A/G] NM_007335,NM_007337 DLEC1,DLEC1 EXON Nonsense_W1091X,Nonsense_W1091X exm300201 3 38151690 [T/C] NM_007335,NM_007337 DLEC1,DLEC1 EXON Missense_R1121C,Missense_R1121C exm300202 3 38151709 [A/G] NM_007335,NM_007337 DLEC1,DLEC1 EXON Missense_R1127H,Missense_R1127H exm300207 3 38151765 [A/C] NM_007335,NM_007337 DLEC1,DLEC1 EXON Missense_T1146P,Missense_T1146P exm300212 3 38153172 [A/G] NM_007335,NM_007337 DLEC1,DLEC1 EXON Missense_N1150D,Missense_N1150D exm300216 3 38153202 [T/C] NM_007335,NM_007337 DLEC1,DLEC1 EXON Missense_R1160W,Missense_R1160W exm300218 3 38153715 [A/G] NM_007335,NM_007337 DLEC1,DLEC1 EXON Missense_M1177V,Missense_M1177V exm300226 3 38153852 [A/G] NM_007335,NM_007337 DLEC1,DLEC1 EXON Synonymous_T1222T,Synonymous_T1222T exm300230 3 38155846 [T/C] NM_007335,NM_007337 DLEC1,DLEC1 EXON Missense_L1227P,Missense_L1227P exm300232 3 38155849 [T/C] NM_007335,NM_007337 DLEC1,DLEC1 EXON Missense_P1228L,Missense_P1228L exm300249 3 38157998 [T/G] NM_007335,NM_007337 DLEC1,DLEC1 EXON Missense_V1304G,Missense_V1304G exm300252 3 38158031 [A/C] NM_007335,NM_007337 DLEC1,DLEC1 EXON Missense_P1315Q,Missense_P1315Q exm2256004 3 38158032 [A/G] NM_007335,NM_007337 DLEC1,DLEC1 EXON Synonymous_P1315P,Synonymous_P1315P exm300254 3 38158036 [T/C] NM_007335,NM_007337 DLEC1,DLEC1 EXON Missense_R1317W,Missense_R1317W exm300260 3 38158122 [A/G] NM_007335,NM_007337 DLEC1,DLEC1 EXON Synonymous_S1345S,Synonymous_S1345S exm2256005 3 38158122 [A/G] NM_007335,NM_007337 DLEC1,DLEC1 EXON Synonymous_S1345S,Synonymous_S1345S exm300266 3 38158348 [A/G] NM_007335,NM_007337 DLEC1,DLEC1 EXON Missense_G1383S,Missense_G1383S exm300268 3 38158380 [A/G] NM_007335,NM_007337 DLEC1,DLEC1 EXON Synonymous_V1393V,Synonymous_V1393V exm300271 3 38158553 [A/T] NM_007335,NM_007337 DLEC1,DLEC1 EXON Missense_T1423S,Missense_T1423S exm300292 3 38159462 [A/G] NM_007335,NM_007337 DLEC1,DLEC1 EXON Missense_E1551K,Missense_E1551K exm300293 3 38159475 [T/C] NM_007335,NM_007337 DLEC1,DLEC1 EXON Missense_A1555V,Missense_A1555V exm300295 3 38159501 [T/C] NM_007335,NM_007337 DLEC1,DLEC1 EXON Nonsense_Q1564X,Nonsense_Q1564X exm300304 3 38163146 [A/G] NM_007335,NM_007337 DLEC1,DLEC1 EXON Missense_V1632M,Missense_V1632M exm300308 3 38163203 [A/C] NM_007335,NM_007337 DLEC1,DLEC1 EXON Missense_Q1651K,Missense_Q1651K exm300311 3 38163248 [T/C] NM_007335,NM_007337 DLEC1,DLEC1 EXON Nonsense_R1666X,Nonsense_R1666X exm300318 3 38163636 [A/G] NM_007335,NM_007337 DLEC1,DLEC1 EXON Missense_A1699T,Silent exm300323 3 38163803 [T/C] NM_007335,NM_007337 DLEC1,DLEC1 EXON Missense_T1723M,Nonsense_R1682X exm300325 3 38163833 [A/C] NM_007335,NM_007337 DLEC1,DLEC1 EXON Missense_K1733T,Missense_S1692R exm300327 3 38163847 [A/C] NM_007335,NM_007337 DLEC1,DLEC1 EXON Synonymous_R1738R,Nonsense_C1696X exm300328 3 38163854 [A/G] NM_007335,NM_007337 DLEC1,DLEC1 EXON Missense_R1740Q,Missense_G1699R exm300330 3 38163867 [T/C] NM_007335,NM_007337 DLEC1,DLEC1 EXON Synonymous_S1744S,Missense_P1703L exm300331 3 38163900 [T/C] NM_007335,NM_007337 DLEC1,DLEC1 EXON Synonymous_P1755P,Missense_P1714L exm300339 3 38164002 [A/C] NM_007335,NM_007337 DLEC1,DLEC1 EXON Silent,Missense_T1748N exm300342 3 38164040 [T/C] NM_007335,NM_007337 DLEC1,DLEC1 EXON Silent,Missense_P1761S exm300351 3 38164585 [T/C] NR_024024,NM_001607,NM_001130410 ACAA1,ACAA1,ACAA1 EXON Silent,Missense_G410R,Missense_G317R exm300356 3 38167065 [T/C] NR_024024,NM_001607,NM_001130410 ACAA1,ACAA1,ACAA1 EXON Silent,Missense_R397H,Missense_R304H exm300359 3 38167080 [T/C] NR_024024,NM_001607,NM_001130410 ACAA1,ACAA1,ACAA1 EXON Silent,Missense_N392S,Missense_N299S exm300360 3 38167089 [A/G] NR_024024,NM_001607,NM_001130410 ACAA1,ACAA1,ACAA1 EXON Silent,Missense_T389M,Missense_T296M exm300361 3 38167095 [A/G] NR_024024,NM_001607,NM_001130410 ACAA1,ACAA1,ACAA1 EXON Silent,Missense_V387A,Missense_V294A exm300365 3 38167168 [C/G] NR_024024,NM_001607,NM_001130410 ACAA1,ACAA1,ACAA1 EXON Silent,Missense_P363A,Missense_P270A exm2256006 3 38167190 [A/G] NR_024024,NM_001607,NM_001130410 ACAA1,ACAA1,ACAA1 EXON Silent,Synonymous_C355C,Synonymous_C262C exm300375 3 38167694 [A/G] NR_024024,NM_001607,NM_001130410 ACAA1,ACAA1,ACAA1 EXON Silent,Missense_I319T,Silent exm300378 3 38167743 [T/C] NR_024024,NM_001607,NM_001130410 ACAA1,ACAA1,ACAA1 EXON Silent,Missense_V303I,Silent exm300385 3 38168125 [A/C] NR_024024,NM_001607,NM_001130410 ACAA1,ACAA1,ACAA1 EXON Silent,Missense_H231Q,Missense_H198Q exm300389 3 38170810 [C/G] NR_024024,NM_001607,NM_001130410 ACAA1,ACAA1,ACAA1 EXON Silent,Missense_E172D,Silent exm300391 3 38170838 [T/C] NR_024024,NM_001607,NM_001130410 ACAA1,ACAA1,ACAA1 EXON Silent,Missense_N163S,Silent exm300413 3 38178123 [G/C] NR_024024,NM_001607,NM_001130410 ACAA1,ACAA1,ACAA1 EXON Silent,Missense_D75E,Missense_D75E exm300426 3 38180271 [T/C] NM_001172566,NM_001172567,NM_002468,NM_001172569,NM_001172568 MYD88,MYD88,MYD88,MYD88,MYD88 EXON Missense_M40T,Missense_M40T,Missense_M40T,Missense_M40T,Missense_M40T exm2050474 3 38181420 [A/G] NM_001172566,NM_001172567,NM_002468,NM_001172569,NM_001172568 MYD88,MYD88,MYD88,MYD88,MYD88 EXON Silent,Missense_A145T,Missense_A145T,Missense_A145T,Silent exm2050477 3 38181953 [T/C] NM_001172566,NM_001172567,NM_002468,NM_001172569,NM_001172568 MYD88,MYD88,MYD88,MYD88,MYD88 EXON Silent,Missense_R193W,Missense_R193W,Silent,Missense_R148W exm300448 3 38182019 [A/C] NM_001172566,NM_001172567,NM_002468,NM_001172569,NM_001172568 MYD88,MYD88,MYD88,MYD88,MYD88 EXON Silent,Missense_T215P,Missense_T215P,Silent,Missense_T170P exm300467 3 38224533 [A/C] NM_005109 OXSR1 EXON Missense_A37D exm300488 3 38271881 [T/C] NM_005109 OXSR1 EXON Missense_T304I exm300496 3 38287626 [T/C] NM_005109 OXSR1 EXON Missense_H391Y exm300510 3 38292941 [A/G] NM_005109 OXSR1 EXON Missense_D475N exm300519 3 38307398 [A/G] NM_004256 SLC22A13 EXON Missense_R16H exm300524 3 38307565 [A/G] NM_004256 SLC22A13 EXON Missense_V72M exm300527 3 38307581 [T/C] NM_004256 SLC22A13 EXON Missense_A77V exm300532 3 38307622 [A/G] NM_004256 SLC22A13 EXON Missense_A91T exm300534 3 38307656 [A/G] NM_004256 SLC22A13 EXON Missense_R102H exm300535 3 38307668 [T/C] NM_004256 SLC22A13 EXON Missense_T106M exm300546 3 38316168 [A/C] NM_004256 SLC22A13 EXON Missense_P186T exm300556 3 38316518 [A/G] NM_004256 SLC22A13 EXON Missense_V226M exm300557 3 38316537 [A/G] NM_004256 SLC22A13 EXON Missense_N232S exm300560 3 38316577 [A/C] NM_004256 SLC22A13 EXON Nonsense_Y245X exm300566 3 38316881 [A/G] NM_004256 SLC22A13 EXON Missense_R276H exm300574 3 38317123 [T/C] NM_004256 SLC22A13 EXON Missense_P328S exm300578 3 38317414 [T/C] NM_004256 SLC22A13 EXON Missense_V355A exm300579 3 38317417 [A/G] NM_004256 SLC22A13 EXON Missense_G356E exm300582 3 38317434 [A/G] NM_004256 SLC22A13 EXON Missense_V362I exm300585 3 38317479 [T/C] NM_004256 SLC22A13 EXON Missense_R377C exm2050547 3 38317515 [T/C] NM_004256 SLC22A13 EXON Missense_R389C exm300599 3 38317882 [T/C] NM_004256 SLC22A13 EXON Missense_L448F exm300600 3 38317885 [T/C] NM_004256 SLC22A13 EXON Missense_R449W exm300601 3 38317886 [A/G] NM_004256 SLC22A13 EXON Missense_R449Q exm300602 3 38318413 [A/C] NM_004256 SLC22A13 EXON Missense_M453L exm300607 3 38318464 [A/G] NM_004256 SLC22A13 EXON Missense_V470M exm300627 3 38347632 [T/C] NM_004803 SLC22A14 EXON Missense_R39C exm300628 3 38347633 [A/G] NM_004803 SLC22A14 EXON Missense_R39H exm300633 3 38347680 [T/C] NM_004803 SLC22A14 EXON Missense_L55F exm300635 3 38347711 [T/C] NM_004803 SLC22A14 EXON Missense_F65S exm300638 3 38347785 [A/G] NM_004803 SLC22A14 EXON Missense_V90M exm300642 3 38347840 [A/C] NM_004803 SLC22A14 EXON Missense_P108H exm300643 3 38347851 [A/G] NM_004803 SLC22A14 EXON Missense_K112E exm300649 3 38348743 [A/C] NM_004803 SLC22A14 Silent exm300650 3 38348770 [T/C] NM_004803 SLC22A14 EXON Missense_T181M exm300652 3 38348793 [A/G] NM_004803 SLC22A14 EXON Missense_M189V exm300659 3 38349064 [G/C] NM_004803 SLC22A14 EXON Missense_R210G exm300665 3 38349109 [A/G] NM_004803 SLC22A14 EXON Missense_G225S exm-IND3-38324150 3 38349147 [I/D] NM_004803 SLC22A14 EXON exm300668 3 38349158 [A/G] NM_004803 SLC22A14 EXON Missense_R241H exm300681 3 38350519 [A/G] NM_004803 SLC22A14 EXON Missense_V284M exm300683 3 38350543 [A/G] NM_004803 SLC22A14 EXON Missense_S292G exm300688 3 38354498 [T/C] NM_004803 SLC22A14 EXON Missense_P318L exm300709 3 38355244 [T/C] NM_004803 SLC22A14 EXON Missense_T397M exm300717 3 38355325 [A/G] NM_004803 SLC22A14 EXON Missense_R424Q exm300722 3 38357067 [T/C] NM_004803 SLC22A14 EXON Missense_L466P exm2273902 3 38357106 [T/C] NM_004803 SLC22A14 EXON Missense_M479T exm300727 3 38357134 [G/C] NM_004803 SLC22A14 EXON Missense_E488D exm300728 3 38357147 [A/G] NM_004803 SLC22A14 EXON Missense_A493T exm300730 3 38357156 [A/G] NM_004803 SLC22A14 EXON Missense_T496A exm300731 3 38357175 [T/C] NM_004803 SLC22A14 EXON Missense_T502I exm300735 3 38357817 [T/C] NM_004803 SLC22A14 EXON Missense_A512V exm300737 3 38357847 [T/C] NM_004803 SLC22A14 EXON Missense_S522L exm300744 3 38357952 [C/G] NM_004803 SLC22A14 EXON Missense_S557C exm300745 3 38357961 [G/C] NM_004803 SLC22A14 EXON Missense_P560R exm300748 3 38357987 [A/G] NM_004803 SLC22A14 EXON Missense_E569K exm2239454 3 38358012 [T/C] NM_004803 SLC22A14 EXON Missense_I577T exm300760 3 38390056 [G/C] NM_005108 XYLB EXON Missense_V25L exm300761 3 38401831 [A/G] NM_005108 XYLB EXON Missense_T48A exm300765 3 38401858 [G/C] NM_005108 XYLB EXON Missense_D57H exm300766 3 38401868 [T/C] NM_005108 XYLB EXON Missense_T60M exm300770 3 38404472 [A/C] NM_005108 XYLB EXON Missense_D85E exm300788 3 38407117 [A/G] NM_005108 XYLB EXON Missense_D133N exm300791 3 38407198 [A/C] NM_005108 XYLB EXON Missense_S160R exm300802 3 38411582 [A/G] NM_005108 XYLB EXON Missense_V228I exm300803 3 38411606 [T/G] NM_005108 XYLB EXON Missense_A236S exm300806 3 38411656 [G/C] NM_005108 XYLB EXON Missense_C252W exm300821 3 38415954 [A/G] NM_005108 XYLB EXON Synonymous_A283A exm300830 3 38417645 [A/G] NM_005108 XYLB EXON Missense_N348D exm300840 3 38420828 [A/G] NM_005108 XYLB EXON Missense_R429Q exm300842 3 38436996 [T/C] NM_005108 XYLB EXON Missense_M431T exm300845 3 38437052 [T/C] NM_005108 XYLB EXON Nonsense_Q450X exm300849 3 38438594 [A/G] NM_005108 XYLB EXON Missense_Y461C exm300850 3 38438638 [T/C] NM_005108 XYLB EXON Nonsense_R476X exm300852 3 38442397 [T/C] NM_005108 XYLB EXON Missense_T485I exm300854 3 38442402 [A/G] NM_005108 XYLB EXON Missense_V487M exm-rs2070488 3 38442490 [A/G] NM_005108 XYLB Silent exm300863 3 38454497 [T/C] NM_005108 XYLB EXON Missense_P535L exm300867 3 38518844 [A/G] NM_001106 ACVR2B EXON Missense_R40H exm300880 3 38519870 [G/C] NM_001106 ACVR2B EXON Missense_P176R exm300898 3 38521284 [A/G] NM_001106 ACVR2B EXON Missense_R309H exm2256008 3 38523754 [T/C] NM_001106 ACVR2B EXON Synonymous_A380A exm300925 3 38524728 [T/C] NM_001106 ACVR2B EXON Missense_R482W exm300928 3 38524761 [T/C] NM_001106 ACVR2B EXON Missense_L493F exm300942 3 38537901 [C/G] NM_005107,NM_001145464 EXOG,EXOG EXON Missense_R15G,Missense_R15G exm300968 3 38539270 [A/G] NM_005107,NM_001145464 EXOG,EXOG Silent,Silent exm300969 3 38542915 [A/G] NM_005107,NM_001145464 EXOG,EXOG EXON Missense_N128S,Missense_N78S exm300974 3 38545105 [A/G] NM_005107,NM_001145464 EXOG,EXOG Silent,Silent exm300976 3 38545177 [G/C] NM_005107,NM_001145464 EXOG,EXOG EXON Missense_W175C,Missense_W125C exm300980 3 38565410 [A/G] NM_005107,NM_001145464 EXOG,EXOG EXON Missense_V222M,Missense_V172M exm300987 3 38565576 [T/G] NM_005107,NM_001145464 EXOG,EXOG EXON Missense_G277V,Missense_G227V exm2050711 3 38565618 [A/G] NM_005107,NM_001145464 EXOG,EXOG EXON Missense_R291Q,Missense_R241Q exm300992 3 38565753 [A/G] NM_005107,NM_001145464 EXOG,EXOG EXON Missense_E336G,Missense_E286G exm300993 3 38565782 [T/C] NM_005107,NM_001145464 EXOG,EXOG EXON Missense_R346C,Missense_R296C exm300996 3 38565798 [T/G] NM_005107,NM_001145464 EXOG,EXOG EXON Missense_L351R,Missense_L301R exm-rs11129795 3 38589163 [A/G] exm301003 3 38591847 [C/G] NM_001099405,NM_001160160,NM_001099404,NM_000335,NM_198056,NM_001160161 SCN5A,SCN5A,SCN5A,SCN5A,SCN5A,SCN5A EXON Missense_P1988A,Missense_P1973A,Missense_P2006A,Missense_P2005A,Missense_P2006A,Missense_P1952A exm301004 3 38591853 [A/G] NM_001099405,NM_001160160,NM_001099404,NM_000335,NM_198056,NM_001160161 SCN5A,SCN5A,SCN5A,SCN5A,SCN5A,SCN5A EXON Missense_F1986L,Missense_F1971L,Missense_F2004L,Missense_F2003L,Missense_F2004L,Missense_F1950L exm301022 3 38592152 [A/G] NM_001099405,NM_001160160,NM_001099404,NM_000335,NM_198056,NM_001160161 SCN5A,SCN5A,SCN5A,SCN5A,SCN5A,SCN5A EXON Missense_S1886L,Missense_S1871L,Missense_S1904L,Missense_S1903L,Missense_S1904L,Missense_S1850L exm301026 3 38592174 [A/G] NM_001099405,NM_001160160,NM_001099404,NM_000335,NM_198056,NM_001160161 SCN5A,SCN5A,SCN5A,SCN5A,SCN5A,SCN5A EXON Missense_R1879W,Missense_R1864W,Missense_R1897W,Missense_R1896W,Missense_R1897W,Missense_R1843W exm301030 3 38592356 [A/G] NM_001099405,NM_001160160,NM_001099404,NM_000335,NM_198056,NM_001160161 SCN5A,SCN5A,SCN5A,SCN5A,SCN5A,SCN5A EXON Missense_I1818T,Missense_I1803T,Missense_I1836T,Missense_I1835T,Missense_I1836T,Missense_I1782T exm301039 3 38592503 [T/C] NM_001099405,NM_001160160,NM_001099404,NM_000335,NM_198056,NM_001160161 SCN5A,SCN5A,SCN5A,SCN5A,SCN5A,SCN5A EXON Missense_S1769N,Missense_S1754N,Missense_S1787N,Missense_S1786N,Missense_S1787N,Missense_S1733N exm-rs12053903 3 38593393 [T/C] NM_001099405,NM_001160160,NM_001099404,NM_000335,NM_198056,NM_001160161 SCN5A,SCN5A,SCN5A,SCN5A,SCN5A,SCN5A Silent,Silent,Silent,Silent,Silent,Silent exm301061 3 38595989 [T/C] NM_001099405,NM_001160160,NM_001099404,NM_000335,NM_198056,NM_001160161 SCN5A,SCN5A,SCN5A,SCN5A,SCN5A,SCN5A EXON Missense_V1514I,Missense_V1531I,Missense_V1532I,Missense_V1531I,Missense_V1532I,Missense_V1478I exm2050736 3 38598067 [A/G] NM_001099405,NM_001160160,NM_001099404,NM_000335,NM_198056,NM_001160161 SCN5A,SCN5A,SCN5A,SCN5A,SCN5A,SCN5A EXON Synonymous_Y1416Y,Synonymous_Y1433Y,Synonymous_Y1434Y,Synonymous_Y1433Y,Synonymous_Y1434Y,Synonymous_Y1380Y exm2256010 3 38598067 [A/G] NM_001099405,NM_001160160,NM_001099404,NM_000335,NM_198056,NM_001160161 SCN5A,SCN5A,SCN5A,SCN5A,SCN5A,SCN5A EXON Synonymous_Y1416Y,Synonymous_Y1433Y,Synonymous_Y1434Y,Synonymous_Y1433Y,Synonymous_Y1434Y,Synonymous_Y1380Y exm301081 3 38603947 [A/G] NM_001099405,NM_001160160,NM_001099404,NM_000335,NM_198056,NM_001160161 SCN5A,SCN5A,SCN5A,SCN5A,SCN5A,SCN5A EXON Missense_L1308F,Missense_L1307F,Missense_L1308F,Missense_L1307F,Missense_L1308F,Missense_L1254F exm301082 3 38603958 [A/G] NM_001099405,NM_001160160,NM_001099404,NM_000335,NM_198056,NM_001160161 SCN5A,SCN5A,SCN5A,SCN5A,SCN5A,SCN5A EXON Missense_T1304M,Missense_T1303M,Missense_T1304M,Missense_T1303M,Missense_T1304M,Missense_T1250M exm301085 3 38603991 [A/G] NM_001099405,NM_001160160,NM_001099404,NM_000335,NM_198056,NM_001160161 SCN5A,SCN5A,SCN5A,SCN5A,SCN5A,SCN5A EXON Missense_F1293S,Missense_F1292S,Missense_F1293S,Missense_F1292S,Missense_F1293S,Missense_F1239S exm301090 3 38607989 [T/C] NM_001099405,NM_001160160,NM_001099404,NM_000335,NM_198056,NM_001160161 SCN5A,SCN5A,SCN5A,SCN5A,SCN5A,SCN5A EXON Missense_V1251M,Missense_V1250M,Missense_V1251M,Missense_V1250M,Missense_V1251M,Missense_V1197M exm301095 3 38616876 [T/C] NM_001099405,NM_001160160,NM_001099404,NM_000335,NM_198056,NM_001160161 SCN5A,SCN5A,SCN5A,SCN5A,SCN5A,SCN5A EXON Missense_R1193Q,Missense_R1192Q,Missense_R1193Q,Missense_R1192Q,Missense_R1193Q,Missense_R1139Q exm2050754 3 38616877 [A/G] NM_001099405,NM_001160160,NM_001099404,NM_000335,NM_198056,NM_001160161 SCN5A,SCN5A,SCN5A,SCN5A,SCN5A,SCN5A EXON Missense_R1193W,Missense_R1192W,Missense_R1193W,Missense_R1192W,Missense_R1193W,Missense_R1139W exm301106 3 38620907 [T/G] NM_001099405,NM_001160160,NM_001099404,NM_000335,NM_198056,NM_001160161 SCN5A,SCN5A,SCN5A,SCN5A,SCN5A,SCN5A EXON Missense_S1103Y,Missense_S1102Y,Missense_S1103Y,Missense_S1102Y,Missense_S1103Y,Silent exm301107 3 38620916 [A/G] NM_001099405,NM_001160160,NM_001099404,NM_000335,NM_198056,NM_001160161 SCN5A,SCN5A,SCN5A,SCN5A,SCN5A,SCN5A EXON Missense_A1100V,Missense_A1099V,Missense_A1100V,Missense_A1099V,Missense_A1100V,Silent exm301108 3 38620946 [A/G] NM_001099405,NM_001160160,NM_001099404,NM_000335,NM_198056,NM_001160161 SCN5A,SCN5A,SCN5A,SCN5A,SCN5A,SCN5A EXON Missense_P1090L,Missense_P1089L,Missense_P1090L,Missense_P1089L,Missense_P1090L,Silent exm-rs3922844 3 38624253 [T/C] NM_001099405,NM_001160160,NM_001099404,NM_000335,NM_198056,NM_001160161 SCN5A,SCN5A,SCN5A,SCN5A,SCN5A,SCN5A Silent,Silent,Silent,Silent,Silent,Silent exm-rs11708996 3 38633923 [G/C] NM_001099405,NM_001160160,NM_001099404,NM_000335,NM_198056,NM_001160161 SCN5A,SCN5A,SCN5A,SCN5A,SCN5A,SCN5A Silent,Silent,Silent,Silent,Silent,Silent exm301141 3 38639411 [T/C] NM_001099405,NM_001160160,NM_001099404,NM_000335,NM_198056,NM_001160161 SCN5A,SCN5A,SCN5A,SCN5A,SCN5A,SCN5A EXON Missense_A691T,Missense_A691T,Missense_A691T,Missense_A691T,Missense_A691T,Missense_A691T exm301143 3 38640418 [T/C] NM_001099405,NM_001160160,NM_001099404,NM_000335,NM_198056,NM_001160161 SCN5A,SCN5A,SCN5A,SCN5A,SCN5A,SCN5A EXON Missense_A672T,Missense_A672T,Missense_A672T,Missense_A672T,Missense_A672T,Missense_A672T exm301145 3 38640439 [A/C] NM_001099405,NM_001160160,NM_001099404,NM_000335,NM_198056,NM_001160161 SCN5A,SCN5A,SCN5A,SCN5A,SCN5A,SCN5A EXON Missense_A665S,Missense_A665S,Missense_A665S,Missense_A665S,Missense_A665S,Missense_A665S exm301149 3 38640465 [A/G] NM_001099405,NM_001160160,NM_001099404,NM_000335,NM_198056,NM_001160161 SCN5A,SCN5A,SCN5A,SCN5A,SCN5A,SCN5A EXON Missense_P656L,Missense_P656L,Missense_P656L,Missense_P656L,Missense_P656L,Missense_P656L exm301152 3 38645235 [A/G] NM_001099405,NM_001160160,NM_001099404,NM_000335,NM_198056,NM_001160161 SCN5A,SCN5A,SCN5A,SCN5A,SCN5A,SCN5A EXON Missense_R620C,Missense_R620C,Missense_R620C,Missense_R620C,Missense_R620C,Missense_R620C exm301154 3 38645241 [A/G] NM_001099405,NM_001160160,NM_001099404,NM_000335,NM_198056,NM_001160161 SCN5A,SCN5A,SCN5A,SCN5A,SCN5A,SCN5A EXON Missense_L618F,Missense_L618F,Missense_L618F,Missense_L618F,Missense_L618F,Missense_L618F exm301155 3 38645249 [T/C] NM_001099405,NM_001160160,NM_001099404,NM_000335,NM_198056,NM_001160161 SCN5A,SCN5A,SCN5A,SCN5A,SCN5A,SCN5A EXON Missense_G615E,Missense_G615E,Missense_G615E,Missense_G615E,Missense_G615E,Missense_G615E exm301164 3 38645420 [T/C] NM_001099405,NM_001160160,NM_001099404,NM_000335,NM_198056,NM_001160161 SCN5A,SCN5A,SCN5A,SCN5A,SCN5A,SCN5A EXON Missense_H558R,Missense_H558R,Missense_H558R,Missense_H558R,Missense_H558R,Missense_H558R exm301170 3 38645522 [T/G] NM_001099405,NM_001160160,NM_001099404,NM_000335,NM_198056,NM_001160161 SCN5A,SCN5A,SCN5A,SCN5A,SCN5A,SCN5A EXON Missense_S524Y,Missense_S524Y,Missense_S524Y,Missense_S524Y,Missense_S524Y,Missense_S524Y exm301174 3 38646297 [A/G] NM_001099405,NM_001160160,NM_001099404,NM_000335,NM_198056,NM_001160161 SCN5A,SCN5A,SCN5A,SCN5A,SCN5A,SCN5A EXON Missense_R481W,Missense_R481W,Missense_R481W,Missense_R481W,Missense_R481W,Missense_R481W exm301177 3 38646357 [A/C] NM_001099405,NM_001160160,NM_001099404,NM_000335,NM_198056,NM_001160161 SCN5A,SCN5A,SCN5A,SCN5A,SCN5A,SCN5A EXON Missense_L461V,Missense_L461V,Missense_L461V,Missense_L461V,Missense_L461V,Missense_L461V exm301183 3 38647498 [T/C] NM_001099405,NM_001160160,NM_001099404,NM_000335,NM_198056,NM_001160161 SCN5A,SCN5A,SCN5A,SCN5A,SCN5A,SCN5A EXON Missense_E428K,Missense_E428K,Missense_E428K,Missense_E428K,Missense_E428K,Missense_E428K exm301203 3 38651264 [A/T] NM_001099405,NM_001160160,NM_001099404,NM_000335,NM_198056,NM_001160161 SCN5A,SCN5A,SCN5A,SCN5A,SCN5A,SCN5A EXON Missense_L299M,Missense_L299M,Missense_L299M,Missense_L299M,Missense_L299M,Missense_L299M exm301207 3 38651303 [A/C] NM_001099405,NM_001160160,NM_001099404,NM_000335,NM_198056,NM_001160161 SCN5A,SCN5A,SCN5A,SCN5A,SCN5A,SCN5A EXON Missense_A286S,Missense_A286S,Missense_A286S,Missense_A286S,Missense_A286S,Missense_A286S exm301213 3 38655278 [A/G] NM_001099405,NM_001160160,NM_001099404,NM_000335,NM_198056,NM_001160161 SCN5A,SCN5A,SCN5A,SCN5A,SCN5A,SCN5A EXON Silent,Silent,Silent,Missense_T220I,Missense_T220I,Silent exm301214 3 38655290 [A/G] NM_001099405,NM_001160160,NM_001099404,NM_000335,NM_198056,NM_001160161 SCN5A,SCN5A,SCN5A,SCN5A,SCN5A,SCN5A EXON Silent,Silent,Silent,Missense_S216L,Missense_S216L,Silent exm301220 3 38655522 [A/G] NM_001099405,NM_001160160,NM_001099404,NM_000335,NM_198056,NM_001160161 SCN5A,SCN5A,SCN5A,SCN5A,SCN5A,SCN5A EXON Missense_S216L,Missense_S216L,Missense_S216L,Silent,Silent,Missense_S216L exm-rs11710077 3 38657899 [T/A] NM_001099405,NM_001160160,NM_001099404,NM_000335,NM_198056,NM_001160161 SCN5A,SCN5A,SCN5A,SCN5A,SCN5A,SCN5A Silent,Silent,Silent,Silent,Silent,Silent exm2050823 3 38662392 [T/C] NM_001099405,NM_001160160,NM_001099404,NM_000335,NM_198056,NM_001160161 SCN5A,SCN5A,SCN5A,SCN5A,SCN5A,SCN5A EXON Missense_A185T,Missense_A185T,Missense_A185T,Missense_A185T,Missense_A185T,Missense_A185T exm301223 3 38662449 [T/C] NM_001099405,NM_001160160,NM_001099404,NM_000335,NM_198056,NM_001160161 SCN5A,SCN5A,SCN5A,SCN5A,SCN5A,SCN5A EXON Missense_A166T,Missense_A166T,Missense_A166T,Missense_A166T,Missense_A166T,Missense_A166T exm301232 3 38671914 [T/C] NM_001099405,NM_001160160,NM_001099404,NM_000335,NM_198056,NM_001160161 SCN5A,SCN5A,SCN5A,SCN5A,SCN5A,SCN5A EXON Missense_I94V,Missense_I94V,Missense_I94V,Missense_I94V,Missense_I94V,Missense_I94V exm301236 3 38674699 [A/G] NM_001099405,NM_001160160,NM_001099404,NM_000335,NM_198056,NM_001160161 SCN5A,SCN5A,SCN5A,SCN5A,SCN5A,SCN5A EXON Missense_R34C,Missense_R34C,Missense_R34C,Missense_R34C,Missense_R34C,Missense_R34C exm2265438 3 38687803 [A/G] NM_001099405,NM_001160160,NM_001099404,NM_000335,NM_198056,NM_001160161 SCN5A,SCN5A,SCN5A,SCN5A,SCN5A,SCN5A Silent,Silent,Silent,Silent,Silent,Silent exm-rs9851724 3 38719935 [T/C] exm301255 3 38739054 [A/G] NM_006514 SCN10A EXON Missense_A1886V exm301258 3 38739081 [A/G] NM_006514 SCN10A EXON Missense_P1877L exm301260 3 38739106 [A/G] NM_006514 SCN10A EXON Missense_R1869C exm301261 3 38739108 [T/G] NM_006514 SCN10A EXON Missense_H1868P exm301267 3 38739171 [T/C] NM_006514 SCN10A EXON Missense_R1847Q exm301268 3 38739172 [A/G] NM_006514 SCN10A EXON Nonsense_R1847X exm2239465 3 38739265 [T/C] NM_006514 SCN10A EXON Missense_G1816R exm301282 3 38739511 [T/C] NM_006514 SCN10A EXON Missense_E1734K exm301286 3 38739574 [T/C] NM_006514 SCN10A EXON Missense_M1713V exm301288 3 38739622 [T/C] NM_006514 SCN10A EXON Missense_V1697I exm301317 3 38743331 [T/C] NM_006514 SCN10A EXON Synonymous_A1552A exm301324 3 38743419 [T/C] NM_006514 SCN10A EXON Missense_C1523Y exm301325 3 38743435 [T/C] NM_006514 SCN10A EXON Missense_V1518I exm301330 3 38743591 [A/G] NM_006514 SCN10A EXON Nonsense_Q1466X exm301333 3 38748778 [A/G] NM_006514 SCN10A EXON Missense_R1460W exm301341 3 38752339 [T/C] NM_006514 SCN10A EXON Missense_R1380Q exm2050865 3 38753672 [A/T] NM_006514 SCN10A EXON Missense_Y1357N exm301347 3 38753732 [T/A] NM_006514 SCN10A EXON Missense_S1337T exm301356 3 38753882 [T/C] NM_006514 SCN10A EXON Missense_V1287I exm301358 3 38753903 [T/A] NM_006514 SCN10A EXON Missense_S1280T exm301362 3 38755450 [T/C] NM_006514 SCN10A EXON Missense_R1268Q exm301374 3 38755561 [A/G] NM_006514 SCN10A EXON Missense_I1231T exm301377 3 38760151 [A/G] NM_006514 SCN10A EXON Missense_I1225T exm2239468 3 38760270 [A/C] NM_006514 SCN10A EXON Missense_L1185F exm2050874 3 38760283 [A/G] NM_006514 SCN10A EXON Missense_T1181M exm301384 3 38763774 [A/G] NM_006514 SCN10A EXON Missense_M1161T exm301392 3 38763895 [T/G] NM_006514 SCN10A EXON Missense_R1121S exm301395 3 38764998 [A/G] NM_006514 SCN10A EXON Missense_L1092P exm301398 3 38766675 [A/G] NM_006514 SCN10A EXON Missense_V1073A exm301400 3 38766760 [T/G] NM_006514 SCN10A EXON Missense_P1045T exm2239470 3 38768164 [T/C] NM_006514 SCN10A EXON Missense_D1007G exm301407 3 38768212 [A/G] NM_006514 SCN10A EXON Missense_P991L exm301409 3 38768300 [T/C] NM_006514 SCN10A EXON Missense_I962V exm301414 3 38768342 [C/G] NM_006514 SCN10A EXON Missense_V948L exm301416 3 38768368 [A/G] NM_006514 SCN10A EXON Missense_P939L exm301433 3 38770198 [T/G] NM_006514 SCN10A EXON Missense_E825D exm301436 3 38770223 [T/C] NM_006514 SCN10A EXON Missense_R817Q exm301437 3 38770224 [A/G] NM_006514 SCN10A EXON Nonsense_R817X exm301439 3 38770232 [T/C] NM_006514 SCN10A EXON Missense_R814H exm301441 3 38770245 [A/C] NM_006514 SCN10A EXON Missense_G810W exm2050897 3 38770349 [A/G] NM_006514 SCN10A EXON Missense_T775I exm-rs6800541 3 38774832 [T/C] NM_006514 SCN10A Silent exm301451 3 38781116 [A/C] NM_006514 SCN10A EXON Missense_Y724D exm301463 3 38791573 [T/C] NM_006514 SCN10A EXON Missense_V620I exm301467 3 38791663 [T/C] NM_006514 SCN10A EXON Missense_G590R exm301477 3 38793930 [T/C] NM_006514 SCN10A EXON Missense_R512Q exm301478 3 38793931 [A/G] NM_006514 SCN10A EXON Nonsense_R512X exm301480 3 38793940 [A/G] NM_006514 SCN10A EXON Missense_S509P exm301487 3 38797287 [A/G] NM_006514 SCN10A EXON Missense_R485C exm301490 3 38797310 [A/G] NM_006514 SCN10A EXON Missense_P477L exm301493 3 38797351 [A/C] NM_006514 SCN10A EXON Missense_K463N exm301501 3 38798178 [T/C] NM_006514 SCN10A EXON Missense_R426Q exm301508 3 38798292 [A/G] NM_006514 SCN10A EXON Missense_L388P exm2050926 3 38798298 [A/C] NM_006514 SCN10A EXON Missense_F386C exm301509 3 38798314 [T/C] NM_006514 SCN10A EXON Missense_I381V exm301510 3 38798317 [T/C] NM_006514 SCN10A EXON Missense_V380I exm301523 3 38802217 [T/C] NM_006514 SCN10A EXON Missense_R302Q exm301527 3 38802713 [T/C] NM_006514 SCN10A EXON Missense_E285K exm301538 3 38805069 [T/C] NM_006514 SCN10A EXON Missense_I206M exm301541 3 38812769 [T/C] NM_006514 SCN10A Silent exm301546 3 38812827 [T/G] NM_006514 SCN10A EXON Missense_E181A exm301548 3 38812897 [A/C] NM_006514 SCN10A EXON Missense_Y158D exm301556 3 38833622 [T/C] NM_006514 SCN10A EXON Missense_R103Q exm301558 3 38833649 [A/C] NM_006514 SCN10A EXON Missense_V94G exm301559 3 38835234 [A/G] NM_006514 SCN10A EXON Missense_R90W exm301560 3 38835251 [A/G] NM_006514 SCN10A EXON Missense_P84L exm301562 3 38835323 [T/C] NM_006514 SCN10A EXON Missense_C60Y exm2239474 3 38835449 [A/G] NM_006514 SCN10A EXON Missense_P18L exm301567 3 38835461 [A/C] NM_006514 SCN10A EXON Missense_R14L exm2273369 3 38888162 [A/G] NM_014139 SCN11A EXON Silent exm301579 3 38888281 [T/A] NM_014139 SCN11A EXON Missense_N1760K exm301582 3 38888354 [A/C] NM_014139 SCN11A EXON Missense_G1736V exm301590 3 38888494 [G/C] NM_014139 SCN11A EXON Missense_F1689L exm301598 3 38888588 [T/C] NM_014139 SCN11A EXON Missense_R1658H exm301602 3 38888682 [A/G] NM_014139 SCN11A EXON Missense_Y1627H exm301603 3 38888735 [A/G] NM_014139 SCN11A EXON Missense_T1609I exm301608 3 38888933 [T/C] NM_014139 SCN11A EXON Missense_C1543Y exm301627 3 38892017 [T/C] NM_014139 SCN11A EXON Missense_G1428S exm2239477 3 38908898 [T/C] NM_014139 SCN11A EXON Missense_V1289I exm301647 3 38912182 [T/C] NM_014139 SCN11A EXON Synonymous_E1271E exm301657 3 38913189 [T/C] NM_014139 SCN11A EXON Missense_N1169S exm301659 3 38913706 [A/G] NM_014139 SCN11A EXON Missense_L1158P exm2051001 3 38924811 [G/C] NM_014139 SCN11A EXON Missense_N1044K exm301670 3 38926829 [T/C] NM_014139 SCN11A EXON Nonsense_W1005X exm301685 3 38936089 [T/C] NM_014139 SCN11A EXON Missense_D924N exm301689 3 38936134 [T/C] NM_014139 SCN11A EXON Missense_V909I exm301694 3 38936310 [A/G] NM_014139 SCN11A EXON Missense_L850P exm301698 3 38936346 [T/C] NM_014139 SCN11A EXON Missense_R838Q exm301700 3 38936401 [A/T] NM_014139 SCN11A EXON Missense_N820Y exm301715 3 38938526 [A/G] NM_014139 SCN11A EXON Missense_P738L exm301718 3 38938644 [T/C] NM_014139 SCN11A EXON Missense_G699R exm301722 3 38941398 [T/C] NM_014139 SCN11A EXON Missense_R670H exm301726 3 38941480 [T/C] NM_014139 SCN11A EXON Missense_I643V exm301730 3 38945454 [T/C] NM_014139 SCN11A EXON Missense_A582T exm301735 3 38945574 [T/G] NM_014139 SCN11A EXON Missense_P542T exm301742 3 38949447 [T/C] NM_014139 SCN11A EXON Missense_Q489R exm301744 3 38949471 [T/C] NM_014139 SCN11A EXON Missense_G481E exm301748 3 38950530 [A/C] NM_014139 SCN11A EXON Missense_K419N exm301749 3 38950564 [T/C] NM_014139 SCN11A EXON Missense_K408R exm301752 3 38950678 [T/C] NM_014139 SCN11A EXON Missense_R370H exm301773 3 38966906 [A/G] NM_014139 SCN11A EXON Missense_R238C exm301780 3 38968310 [A/T] NM_014139 SCN11A EXON Missense_I201F exm301784 3 38986920 [T/A] NM_014139 SCN11A EXON Missense_N157I exm301792 3 38988312 [G/C] NM_014139 SCN11A EXON Missense_I118M exm301808 3 38991759 [A/G] NM_014139 SCN11A EXON Missense_A32V exm301819 3 39093508 [A/C] NM_020839 WDR48 EXON Silent exm301835 3 39108050 [T/G] NM_020839 WDR48 EXON Missense_S94A exm301851 3 39118649 [T/C] NM_020839 WDR48 EXON Missense_A306V exm301852 3 39118655 [T/C] NM_020839 WDR48 EXON Missense_P308L exm301862 3 39121256 [C/G] NM_020839 WDR48 EXON Missense_T377S exm301869 3 39127071 [A/G] NM_020839 WDR48 EXON Missense_M482V exm301880 3 39133129 [A/G] NM_020839 WDR48 EXON Missense_K561R exm301893 3 39139755 [T/C] NM_031899 GORASP1 EXON Missense_S432N exm301894 3 39139776 [A/G] NM_031899 GORASP1 EXON Missense_T425M exm2273903 3 39139911 [A/G] NM_031899 GORASP1 EXON Missense_A380V exm2051103 3 39140337 [T/C] NM_031899 GORASP1 EXON Missense_S322G exm301909 3 39140348 [T/C] NM_031899 GORASP1 EXON Missense_N318S exm301910 3 39140352 [A/C] NM_031899 GORASP1 EXON Missense_D317Y exm301915 3 39140856 [T/C] NM_031899 GORASP1 EXON Missense_V302I exm301917 3 39140972 [G/C] NM_031899 GORASP1 EXON Missense_S263C exm301924 3 39141944 [T/G] NM_031899 GORASP1 EXON Missense_P206H exm301933 3 39142284 [A/G] NM_031899 GORASP1 EXON Missense_R174W exm301940 3 39142562 [A/G] NM_031899 GORASP1 EXON Missense_A127V exm301941 3 39142568 [A/G] NM_031899 GORASP1 EXON Missense_A125V exm301946 3 39144190 [A/T] NM_031899 GORASP1 EXON Missense_S109R exm301947 3 39144200 [T/C] NM_031899 GORASP1 EXON Missense_R106H exm301949 3 39144216 [A/G] NM_031899 GORASP1 EXON Missense_R101C exm301962 3 39145016 [A/G] NM_031899 GORASP1 EXON Missense_A31V exm301965 3 39145040 [T/C] NM_031899 GORASP1 EXON Missense_Q23R exm301983 3 39150586 [T/C] NM_001105513,NM_145755 TTC21A,TTC21A EXON Missense_I13T,Missense_I13T exm301987 3 39150622 [A/G] NM_001105513,NM_145755 TTC21A,TTC21A EXON Missense_Q25R,Missense_Q25R exm301988 3 39150636 [T/G] NM_001105513,NM_145755 TTC21A,TTC21A EXON Missense_V30L,Missense_V30L exm301995 3 39152345 [A/G] NM_001105513,NM_145755 TTC21A,TTC21A EXON Missense_R91Q,Missense_R91Q exm301999 3 39152447 [A/G] NM_001105513,NM_145755 TTC21A,TTC21A EXON Missense_R125H,Missense_R125H exm302003 3 39156081 [A/G] NM_001105513,NM_145755 TTC21A,TTC21A EXON Missense_M147I,Missense_M188I exm302009 3 39159609 [A/G] NM_001105513,NM_145755 TTC21A,TTC21A EXON Missense_V215M,Missense_V256M exm302015 3 39161453 [T/C] NM_001105513,NM_145755 TTC21A,TTC21A EXON Missense_T240I,Missense_T289I exm302016 3 39161456 [A/G] NM_001105513,NM_145755 TTC21A,TTC21A EXON Missense_R241K,Missense_R290K exm302017 3 39161464 [A/G] NM_001105513,NM_145755 TTC21A,TTC21A EXON Missense_E244K,Missense_E293K exm302020 3 39162518 [A/G] NM_001105513,NM_145755 TTC21A,TTC21A EXON Missense_V270M,Missense_V319M exm2239487 3 39162558 [T/C] NM_001105513,NM_145755 TTC21A,TTC21A EXON Missense_S283L,Missense_S332L exm302021 3 39162561 [A/G] NM_001105513,NM_145755 TTC21A,TTC21A EXON Missense_Y284C,Missense_Y333C exm302024 3 39162597 [T/C] NM_001105513,NM_145755 TTC21A,TTC21A EXON Missense_I296T,Missense_I345T exm2051149 3 39166625 [A/G] NM_001105513,NM_145755 TTC21A,TTC21A EXON Missense_V348M,Missense_V397M exm302033 3 39166829 [A/C] NM_001105513,NM_145755 TTC21A,TTC21A EXON Missense_I359L,Missense_I408L exm2051154 3 39166887 [A/C] NM_001105513,NM_145755 TTC21A,TTC21A EXON Missense_A378E,Missense_A427E exm302038 3 39166971 [T/C] NM_001105513,NM_145755 TTC21A,TTC21A EXON Missense_P406L,Missense_P455L exm302042 3 39167024 [A/G] NM_001105513,NM_145755 TTC21A,TTC21A Silent,Silent exm302048 3 39169851 [T/C] NM_001105513,NM_145755 TTC21A,TTC21A EXON Nonsense_Q477X,Nonsense_Q525X exm302054 3 39170206 [A/G] NM_001105513,NM_145755 TTC21A,TTC21A Silent,Silent exm302055 3 39170211 [T/C] NM_001105513,NM_145755 TTC21A,TTC21A EXON Nonsense_R521X,Nonsense_R569X exm302061 3 39170370 [T/C] NM_001105513,NM_145755 TTC21A,TTC21A EXON Missense_R574W,Missense_R622W exm302066 3 39170614 [A/C] NM_001105513,NM_145755 TTC21A,TTC21A EXON Missense_P609T,Missense_P657T exm302075 3 39170782 [A/C] NM_001105513,NM_145755 TTC21A,TTC21A EXON Missense_L665I,Missense_L713I exm302077 3 39170800 [T/C] NM_001105513,NM_145755 TTC21A,TTC21A EXON Missense_R671C,Missense_R719C exm302078 3 39170801 [A/G] NM_001105513,NM_145755 TTC21A,TTC21A EXON Missense_R671H,Missense_R719H exm302083 3 39171814 [A/G] NM_001105513,NM_145755 TTC21A,TTC21A EXON Missense_G721R,Missense_G769R exm302088 3 39172229 [A/G] NM_001105513,NM_145755 TTC21A,TTC21A EXON Missense_G745E,Missense_G793E exm302093 3 39172566 [G/C] NM_001105513,NM_145755 TTC21A,TTC21A EXON Missense_V807L,Missense_V855L exm302099 3 39174543 [T/G] NM_001105513,NM_145755 TTC21A,TTC21A EXON Missense_A814S,Missense_A862S exm302106 3 39174721 [C/G] NM_001105513,NM_145755 TTC21A,TTC21A EXON Missense_T873S,Missense_T921S exm2256011 3 39176625 [A/G] NM_001105513,NM_145755 TTC21A,TTC21A EXON Synonymous_A927A,Synonymous_A975A exm302111 3 39176660 [T/C] NM_001105513,NM_145755 TTC21A,TTC21A EXON Missense_A939V,Missense_A987V exm302121 3 39178409 [A/G] NM_001105513,NM_145755 TTC21A,TTC21A EXON Missense_E998K,Missense_E1046K exm302122 3 39178437 [T/G] NM_001105513,NM_145755 TTC21A,TTC21A EXON Missense_R1007L,Missense_R1055L exm302124 3 39178453 [C/G] NM_001105513,NM_145755 TTC21A,TTC21A EXON Missense_W1012C,Missense_W1060C exm302130 3 39178505 [A/G] NM_001105513,NM_145755 TTC21A,TTC21A EXON Missense_E1030K,Missense_E1078K exm302140 3 39178808 [A/G] NM_001105513,NM_145755 TTC21A,TTC21A EXON Missense_R1086Q,Missense_R1134Q exm2239491 3 39178986 [A/G] NM_001105513,NM_145755 TTC21A,TTC21A EXON Missense_V1113I,Missense_V1161I exm302151 3 39179157 [A/G] NM_001105513,NM_145755 TTC21A,TTC21A EXON Missense_D1170N,Missense_D1218N exm302157 3 39179820 [T/G] NM_001105513,NM_145755 TTC21A,TTC21A EXON Missense_D1205E,Missense_D1253E exm302166 3 39180100 [A/G] NM_001105513,NM_145755 TTC21A,TTC21A EXON Missense_E1243K,Missense_E1291K exm302175 3 39180263 [A/G] NM_001105513,NM_145755 TTC21A,TTC21A EXON Missense_R1268K,Missense_R1316K exm2273370 3 39184510 [A/C] NM_033027 CSRNP1 EXON Silent exm302186 3 39184638 [A/G] NM_033027 CSRNP1 EXON Missense_S560P exm2051207 3 39184850 [A/G] NM_033027 CSRNP1 EXON Missense_A489V exm302193 3 39184884 [A/G] NM_033027 CSRNP1 EXON Missense_L478F exm302196 3 39184959 [T/C] NM_033027 CSRNP1 EXON Missense_V453I exm302198 3 39185034 [T/G] NM_033027 CSRNP1 EXON Missense_I428L exm302204 3 39185151 [T/C] NM_033027 CSRNP1 EXON Missense_D389N exm302210 3 39185306 [T/G] NM_033027 CSRNP1 EXON Missense_P337H exm302231 3 39185900 [T/G] NM_033027 CSRNP1 EXON Missense_P170T exm302245 3 39186607 [A/G] NM_033027 CSRNP1 EXON Missense_R116C exm302254 3 39188053 [A/G] NM_033027 CSRNP1 EXON Missense_R41C exm2269436 3 39214312 [T/C] exm302263 3 39225442 [T/C] NM_001198621,NM_194293 XIRP1,XIRP1 EXON Silent,Missense_Q1832R exm302272 3 39225585 [T/C] NM_001198621,NM_194293 XIRP1,XIRP1 EXON Silent,Missense_M1784I exm302275 3 39225635 [T/C] NM_001198621,NM_194293 XIRP1,XIRP1 EXON Silent,Missense_V1768M exm302282 3 39225752 [G/C] NM_001198621,NM_194293 XIRP1,XIRP1 EXON Silent,Missense_V1729L exm302283 3 39225767 [T/C] NM_001198621,NM_194293 XIRP1,XIRP1 EXON Silent,Missense_I1724V exm302284 3 39225816 [A/C] NM_001198621,NM_194293 XIRP1,XIRP1 EXON Silent,Missense_Q1707H exm302287 3 39225835 [A/G] NM_001198621,NM_194293 XIRP1,XIRP1 EXON Silent,Missense_L1701P exm302292 3 39225916 [A/G] NM_001198621,NM_194293 XIRP1,XIRP1 EXON Silent,Missense_S1674F exm302295 3 39225943 [T/C] NM_001198621,NM_194293 XIRP1,XIRP1 EXON Silent,Missense_D1665G exm302296 3 39225946 [T/C] NM_001198621,NM_194293 XIRP1,XIRP1 EXON Silent,Missense_R1664Q exm302297 3 39225964 [T/C] NM_001198621,NM_194293 XIRP1,XIRP1 EXON Silent,Missense_R1658Q exm302306 3 39226079 [T/C] NM_001198621,NM_194293 XIRP1,XIRP1 EXON Silent,Missense_E1620K exm302322 3 39226336 [A/G] NM_001198621,NM_194293 XIRP1,XIRP1 EXON Silent,Missense_T1534M exm302323 3 39226345 [T/C] NM_001198621,NM_194293 XIRP1,XIRP1 EXON Silent,Missense_R1531Q exm302327 3 39226436 [T/C] NM_001198621,NM_194293 XIRP1,XIRP1 EXON Silent,Missense_V1501M exm302332 3 39226481 [T/C] NM_001198621,NM_194293 XIRP1,XIRP1 EXON Silent,Missense_A1486T exm2239494 3 39226849 [T/C] NM_001198621,NM_194293 XIRP1,XIRP1 EXON Silent,Missense_R1363Q exm302344 3 39226876 [A/G] NM_001198621,NM_194293 XIRP1,XIRP1 EXON Silent,Missense_S1354L exm302346 3 39226916 [T/C] NM_001198621,NM_194293 XIRP1,XIRP1 EXON Silent,Missense_R1341G exm2239495 3 39226928 [A/G] NM_001198621,NM_194293 XIRP1,XIRP1 EXON Silent,Missense_H1337Y exm302354 3 39227165 [T/G] NM_001198621,NM_194293 XIRP1,XIRP1 EXON Silent,Missense_P1258T exm302355 3 39227174 [A/G] NM_001198621,NM_194293 XIRP1,XIRP1 EXON Silent,Missense_P1255S exm302358 3 39227254 [A/G] NM_001198621,NM_194293 XIRP1,XIRP1 EXON Silent,Missense_T1228I exm302370 3 39227495 [T/C] NM_001198621,NM_194293 XIRP1,XIRP1 EXON Silent,Missense_V1148M exm302371 3 39227504 [T/C] NM_001198621,NM_194293 XIRP1,XIRP1 EXON Silent,Missense_A1145T exm302373 3 39227597 [A/G] NM_001198621,NM_194293 XIRP1,XIRP1 EXON Missense_P1114S,Missense_P1114S exm302382 3 39227743 [T/G] NM_001198621,NM_194293 XIRP1,XIRP1 EXON Missense_A1065D,Missense_A1065D exm302383 3 39227755 [A/G] NM_001198621,NM_194293 XIRP1,XIRP1 EXON Missense_A1061V,Missense_A1061V exm302395 3 39227954 [G/C] NM_001198621,NM_194293 XIRP1,XIRP1 EXON Missense_P995A,Missense_P995A exm302420 3 39228311 [C/G] NM_001198621,NM_194293 XIRP1,XIRP1 EXON Missense_P876A,Missense_P876A exm302422 3 39228361 [A/G] NM_001198621,NM_194293 XIRP1,XIRP1 EXON Missense_P859L,Missense_P859L exm302424 3 39228427 [T/C] NM_001198621,NM_194293 XIRP1,XIRP1 EXON Missense_R837Q,Missense_R837Q exm302428 3 39228484 [T/C] NM_001198621,NM_194293 XIRP1,XIRP1 EXON Missense_R818Q,Missense_R818Q exm302431 3 39228514 [A/G] NM_001198621,NM_194293 XIRP1,XIRP1 EXON Missense_S808L,Missense_S808L exm302435 3 39228610 [T/C] NM_001198621,NM_194293 XIRP1,XIRP1 EXON Missense_R776Q,Missense_R776Q exm302436 3 39228611 [A/G] NM_001198621,NM_194293 XIRP1,XIRP1 EXON Missense_R776W,Missense_R776W exm302437 3 39228676 [T/G] NM_001198621,NM_194293 XIRP1,XIRP1 EXON Missense_Q754P,Missense_Q754P exm302442 3 39228772 [A/G] NM_001198621,NM_194293 XIRP1,XIRP1 EXON Missense_A722V,Missense_A722V exm302446 3 39228815 [A/T] NM_001198621,NM_194293 XIRP1,XIRP1 EXON Nonsense_K708X,Nonsense_K708X exm302453 3 39228854 [A/G] NM_001198621,NM_194293 XIRP1,XIRP1 EXON Missense_R695C,Missense_R695C exm302454 3 39228871 [A/G] NM_001198621,NM_194293 XIRP1,XIRP1 EXON Missense_P689L,Missense_P689L exm302460 3 39228905 [A/G] NM_001198621,NM_194293 XIRP1,XIRP1 EXON Missense_R678W,Missense_R678W exm302465 3 39228941 [T/C] NM_001198621,NM_194293 XIRP1,XIRP1 EXON Missense_E666K,Missense_E666K exm302466 3 39228953 [T/C] NM_001198621,NM_194293 XIRP1,XIRP1 EXON Missense_V662I,Missense_V662I exm302474 3 39229097 [T/C] NM_001198621,NM_194293 XIRP1,XIRP1 EXON Missense_V614I,Missense_V614I exm302478 3 39229118 [A/C] NM_001198621,NM_194293 XIRP1,XIRP1 EXON Missense_A607S,Missense_A607S exm302480 3 39229142 [T/C] NM_001198621,NM_194293 XIRP1,XIRP1 EXON Missense_E599K,Missense_E599K exm302483 3 39229172 [T/C] NM_001198621,NM_194293 XIRP1,XIRP1 EXON Missense_G589S,Missense_G589S exm302486 3 39229196 [T/G] NM_001198621,NM_194293 XIRP1,XIRP1 EXON Missense_P581T,Missense_P581T exm302487 3 39229229 [A/G] NM_001198621,NM_194293 XIRP1,XIRP1 EXON Nonsense_R570X,Nonsense_R570X exm302491 3 39229307 [G/C] NM_001198621,NM_194293 XIRP1,XIRP1 EXON Missense_A544P,Missense_A544P exm302492 3 39229321 [T/C] NM_001198621,NM_194293 XIRP1,XIRP1 EXON Missense_R539Q,Missense_R539Q exm302500 3 39229462 [T/C] NM_001198621,NM_194293 XIRP1,XIRP1 EXON Missense_R492H,Missense_R492H exm302505 3 39229638 [A/C] NM_001198621,NM_194293 XIRP1,XIRP1 EXON Missense_E433D,Missense_E433D exm302506 3 39229645 [G/C] NM_001198621,NM_194293 XIRP1,XIRP1 EXON Missense_R431T,Missense_R431T exm302512 3 39229726 [T/C] NM_001198621,NM_194293 XIRP1,XIRP1 EXON Missense_R404Q,Missense_R404Q exm302513 3 39229772 [G/C] NM_001198621,NM_194293 XIRP1,XIRP1 EXON Missense_P389A,Missense_P389A exm302514 3 39229781 [T/C] NM_001198621,NM_194293 XIRP1,XIRP1 EXON Missense_E386K,Missense_E386K exm302518 3 39229856 [T/C] NM_001198621,NM_194293 XIRP1,XIRP1 EXON Missense_E361K,Missense_E361K exm302519 3 39229879 [A/G] NM_001198621,NM_194293 XIRP1,XIRP1 EXON Missense_A353V,Missense_A353V exm302521 3 39229882 [T/C] NM_001198621,NM_194293 XIRP1,XIRP1 EXON Missense_R352Q,Missense_R352Q exm302522 3 39229900 [T/C] NM_001198621,NM_194293 XIRP1,XIRP1 EXON Missense_Q346R,Missense_Q346R exm302523 3 39229901 [A/G] NM_001198621,NM_194293 XIRP1,XIRP1 EXON Nonsense_Q346X,Nonsense_Q346X exm302525 3 39229978 [T/C] NM_001198621,NM_194293 XIRP1,XIRP1 EXON Missense_R320Q,Missense_R320Q exm302533 3 39230072 [A/G] NM_001198621,NM_194293 XIRP1,XIRP1 EXON Missense_R289W,Missense_R289W exm2051270 3 39230110 [T/C] NM_001198621,NM_194293 XIRP1,XIRP1 EXON Missense_R276Q,Missense_R276Q exm2051271 3 39230128 [T/C] NM_001198621,NM_194293 XIRP1,XIRP1 EXON Missense_R270H,Missense_R270H exm302547 3 39230281 [A/G] NM_001198621,NM_194293 XIRP1,XIRP1 EXON Missense_S219L,Missense_S219L exm302555 3 39230393 [T/G] NM_001198621,NM_194293 XIRP1,XIRP1 EXON Missense_P182T,Missense_P182T exm302559 3 39230479 [A/G] NM_001198621,NM_194293 XIRP1,XIRP1 EXON Missense_V153A,Missense_V153A exm302561 3 39230502 [A/C] NM_001198621,NM_194293 XIRP1,XIRP1 EXON Missense_R145S,Missense_R145S exm302565 3 39230585 [T/C] NM_001198621,NM_194293 XIRP1,XIRP1 EXON Missense_V118M,Missense_V118M exm302566 3 39230607 [G/C] NM_001198621,NM_194293 XIRP1,XIRP1 EXON Missense_E110D,Missense_E110D exm302574 3 39230740 [T/C] NM_001198621,NM_194293 XIRP1,XIRP1 EXON Missense_R66H,Missense_R66H exm302577 3 39230765 [A/G] NM_001198621,NM_194293 XIRP1,XIRP1 EXON Missense_Y58H,Missense_Y58H exm302581 3 39230774 [A/G] NM_001198621,NM_194293 XIRP1,XIRP1 EXON Missense_R55C,Missense_R55C exm302596 3 39230912 [T/C] NM_001198621,NM_194293 XIRP1,XIRP1 EXON Missense_A9T,Missense_A9T exm2256014 3 39306947 [A/G] NM_001337,NM_001171172,NM_001171174,NM_001171171 CX3CR1,CX3CR1,CX3CR1,CX3CR1 EXON Synonymous_L352L,Synonymous_L352L,Synonymous_L384L,Synonymous_L352L exm302602 3 39306958 [T/C] NM_001337,NM_001171172,NM_001171174,NM_001171171 CX3CR1,CX3CR1,CX3CR1,CX3CR1 EXON Missense_D348G,Missense_D348G,Missense_D380G,Missense_D348G exm302604 3 39307037 [T/C] NM_001337,NM_001171172,NM_001171174,NM_001171171 CX3CR1,CX3CR1,CX3CR1,CX3CR1 EXON Missense_V322I,Missense_V322I,Missense_V354I,Missense_V322I exm302605 3 39307049 [A/G] NM_001337,NM_001171172,NM_001171174,NM_001171171 CX3CR1,CX3CR1,CX3CR1,CX3CR1 EXON Missense_R318C,Missense_R318C,Missense_R350C,Missense_R318C exm302606 3 39307063 [A/G] NM_001337,NM_001171172,NM_001171174,NM_001171171 CX3CR1,CX3CR1,CX3CR1,CX3CR1 EXON Missense_A313V,Missense_A313V,Missense_A345V,Missense_A313V exm302608 3 39307125 [C/G] NM_001337,NM_001171172,NM_001171174,NM_001171171 CX3CR1,CX3CR1,CX3CR1,CX3CR1 EXON Missense_I292M,Missense_I292M,Missense_I324M,Missense_I292M exm302610 3 39307162 [A/G] NM_001337,NM_001171172,NM_001171174,NM_001171171 CX3CR1,CX3CR1,CX3CR1,CX3CR1 EXON Missense_T280M,Missense_T280M,Missense_T312M,Missense_T280M exm302613 3 39307256 [T/C] NM_001337,NM_001171172,NM_001171174,NM_001171171 CX3CR1,CX3CR1,CX3CR1,CX3CR1 EXON Missense_V249I,Missense_V249I,Missense_V281I,Missense_V249I exm302627 3 39307562 [T/C] NM_001337,NM_001171172,NM_001171174,NM_001171171 CX3CR1,CX3CR1,CX3CR1,CX3CR1 EXON Missense_V147I,Missense_V147I,Missense_V179I,Missense_V147I exm2256015 3 39307596 [C/G] NM_001337,NM_001171172,NM_001171174,NM_001171171 CX3CR1,CX3CR1,CX3CR1,CX3CR1 EXON Synonymous_A135A,Synonymous_A135A,Synonymous_A167A,Synonymous_A135A exm302630 3 39307596 [C/G] NM_001337,NM_001171172,NM_001171174,NM_001171171 CX3CR1,CX3CR1,CX3CR1,CX3CR1 EXON Synonymous_A135A,Synonymous_A135A,Synonymous_A167A,Synonymous_A135A exm302631 3 39307637 [T/C] NM_001337,NM_001171172,NM_001171174,NM_001171171 CX3CR1,CX3CR1,CX3CR1,CX3CR1 EXON Missense_V122I,Missense_V122I,Missense_V154I,Missense_V122I exm2273904 3 39307666 [C/G] NM_001337,NM_001171172,NM_001171174,NM_001171171 CX3CR1,CX3CR1,CX3CR1,CX3CR1 EXON Missense_G112A,Missense_G112A,Missense_G144A,Missense_G112A exm302634 3 39307832 [T/C] NM_001337,NM_001171172,NM_001171174,NM_001171171 CX3CR1,CX3CR1,CX3CR1,CX3CR1 EXON Missense_T57A,Missense_T57A,Missense_T89A,Missense_T57A exm302638 3 39307927 [T/C] NM_001337,NM_001171172,NM_001171174,NM_001171171 CX3CR1,CX3CR1,CX3CR1,CX3CR1 EXON Missense_D25G,Missense_D25G,Missense_D57G,Missense_D25G exm302640 3 39307962 [A/C] NM_001337,NM_001171172,NM_001171174,NM_001171171 CX3CR1,CX3CR1,CX3CR1,CX3CR1 EXON Missense_E13D,Missense_E13D,Missense_E45D,Missense_E13D exm302646 3 39323163 [A/C] NM_001171174 CX3CR1 EXON Missense_F8L exm302647 3 39323177 [G/C] NM_001171174 CX3CR1 EXON Missense_P4A exm302652 3 39373902 [C/G] NM_005201 CCR8 EXON Missense_A27G exm302653 3 39373950 [C/G] NM_005201 CCR8 EXON Missense_C43S exm302656 3 39374151 [T/C] NM_005201 CCR8 EXON Missense_S110F exm302661 3 39374214 [T/G] NM_005201 CCR8 EXON Missense_R131M exm302669 3 39374394 [T/C] NM_005201 CCR8 EXON Missense_T191I exm302686 3 39425226 [A/G] NM_017875 SLC25A38 EXON Missense_N4S exm2051303 3 39425235 [T/C] NM_017875 SLC25A38 EXON Missense_P7L exm302692 3 39431918 [A/G] NM_017875 SLC25A38 EXON Missense_R66G exm2239503 3 39431921 [T/C] NM_017875 SLC25A38 EXON Missense_R67C exm302696 3 39431957 [T/C] NM_017875 SLC25A38 EXON Missense_R79C exm302697 3 39431961 [C/G] NM_017875 SLC25A38 EXON Missense_T80R exm302703 3 39432957 [T/C] NM_017875 SLC25A38 EXON Missense_V101A exm302709 3 39433037 [A/G] NM_017875 SLC25A38 EXON Missense_M128V exm302710 3 39433101 [T/C] NM_017875 SLC25A38 EXON Missense_T149M exm302715 3 39433345 [A/G] NM_017875 SLC25A38 EXON Missense_S153N exm302728 3 39433464 [A/G] NM_017875 SLC25A38 EXON Missense_G193R exm302729 3 39433512 [C/G] NM_017875 SLC25A38 EXON Missense_D209H exm302734 3 39436027 [A/G] NM_017875 SLC25A38 EXON Missense_K251R exm302736 3 39437901 [T/C] NM_017875 SLC25A38 EXON Missense_R269C exm2239505 3 39448204 [T/C] NM_002295 RPSA EXON Silent exm-rs1768208 3 39523003 [T/C] NM_182935,NR_003090 MOBP,MOBP Silent,Silent exm302803 3 39543574 [C/G] NM_182935,NR_003090 MOBP,MOBP EXON Missense_P5R,Silent exm302808 3 39543626 [A/C] NM_182935,NR_003090 MOBP,MOBP EXON Missense_F22L,Silent exm302809 3 39543648 [T/C] NM_182935,NR_003090 MOBP,MOBP EXON Missense_F30L,Silent exm-rs816488 3 39553788 [T/C] NM_182935,NR_003090 MOBP,MOBP Silent,Silent exm-rs864643 3 39555580 [A/G] NM_182935,NR_003090 MOBP,MOBP EXON Silent,Silent exm2265439 3 39957493 [A/G] NM_015460 MYRIP Silent exm-rs9985399 3 40008634 [T/C] NM_015460 MYRIP Silent exm302821 3 40085614 [A/C] NM_015460 MYRIP EXON Missense_H62N exm302824 3 40085644 [A/G] NM_015460 MYRIP EXON Missense_T72A exm302826 3 40085653 [A/G] NM_015460 MYRIP EXON Missense_V75I exm302830 3 40085722 [T/C] NM_015460 MYRIP EXON Missense_H98Y exm302831 3 40085729 [A/G] NM_015460 MYRIP EXON Missense_K100R exm-rs6599077 3 40096618 [A/G] NM_015460 MYRIP Silent exm2256018 3 40129206 [T/C] NM_015460 MYRIP Silent exm302845 3 40192643 [A/G] NM_015460 MYRIP EXON Missense_R146Q exm2051364 3 40208373 [A/G] NM_015460 MYRIP EXON Missense_R196Q exm302863 3 40208683 [A/C] NM_015460 MYRIP EXON Missense_H228N exm302876 3 40223806 [A/C] NM_015460,NR_033965 MYRIP,EIF1B-AS1 EXON Missense_H323Q,Silent exm302877 3 40223808 [T/C] NM_015460,NR_033965 MYRIP,EIF1B-AS1 EXON Missense_P324L,Silent exm302881 3 40231346 [A/G] NM_015460,NR_033965 MYRIP,EIF1B-AS1 EXON Missense_G353R,Silent exm302884 3 40231383 [T/C] NM_015460,NR_033965 MYRIP,EIF1B-AS1 EXON Missense_P365L,Silent exm302886 3 40231416 [T/C] NM_015460,NR_033965 MYRIP,EIF1B-AS1 EXON Missense_T376M,Silent exm302889 3 40231451 [A/T] NM_015460,NR_033965 MYRIP,EIF1B-AS1 EXON Missense_S388T,Silent exm302891 3 40231460 [A/G] NM_015460,NR_033965 MYRIP,EIF1B-AS1 EXON Missense_D391N,Silent exm302894 3 40231489 [G/C] NM_015460,NR_033965 MYRIP,EIF1B-AS1 EXON Missense_D400E,Silent exm302895 3 40231495 [A/C] NM_015460,NR_033965 MYRIP,EIF1B-AS1 EXON Missense_D402E,Silent exm302910 3 40231688 [A/G] NM_015460,NR_033965 MYRIP,EIF1B-AS1 EXON Missense_G467R,Silent exm302914 3 40231814 [A/G] NM_015460,NR_033965 MYRIP,EIF1B-AS1 EXON Missense_D509N,Silent exm302917 3 40231856 [T/C] NM_015460,NR_033965 MYRIP,EIF1B-AS1 EXON Missense_R523W,Silent exm302918 3 40231857 [A/G] NM_015460,NR_033965 MYRIP,EIF1B-AS1 EXON Missense_R523Q,Silent exm302924 3 40231935 [A/G] NM_015460,NR_033965 MYRIP,EIF1B-AS1 EXON Missense_R549Q,Silent exm302929 3 40251388 [A/G] NM_015460,NR_033965 MYRIP,EIF1B-AS1 EXON Missense_R570Q,Silent exm302934 3 40251483 [A/G] NM_015460,NR_033965 MYRIP,EIF1B-AS1 EXON Missense_G602R,Silent exm302940 3 40275461 [T/C] NM_015460,NR_033965 MYRIP,EIF1B-AS1 EXON Missense_P673S,Silent exm302942 3 40275492 [A/G] NM_015460,NR_033965 MYRIP,EIF1B-AS1 EXON Missense_R683H,Silent exm2273905 3 40275521 [A/C] NM_015460,NR_033965 MYRIP,EIF1B-AS1 EXON Missense_Q693K,Silent exm302948 3 40286003 [T/C] NM_015460,NR_033965 MYRIP,EIF1B-AS1 EXON Missense_R723C,Silent exm302954 3 40286040 [T/C] NM_015460,NR_033965 MYRIP,EIF1B-AS1 EXON Missense_A735V,Silent exm302962 3 40291981 [T/C] NM_015460,NR_033965 MYRIP,EIF1B-AS1 EXON Missense_P807S,Silent exm302963 3 40293402 [T/C] NM_015460,NR_033965 MYRIP,EIF1B-AS1 EXON Missense_T820I,Silent exm302964 3 40293431 [T/C] NM_015460,NR_033965 MYRIP,EIF1B-AS1 EXON Missense_L830F,Silent exm2269616 3 40367524 [T/C] exm302993 3 40429586 [A/C] NM_001248 ENTPD3 EXON Missense_A13E exm303007 3 40442421 [A/G] NM_001248,NR_040100 ENTPD3,ENTPD3-AS1 EXON Missense_T69A,Silent exm303008 3 40442458 [A/G] NM_001248,NR_040100 ENTPD3,ENTPD3-AS1 EXON Missense_N81S,Silent exm2051424 3 40453383 [A/C] NM_001248,NR_040100 ENTPD3,ENTPD3-AS1 EXON Missense_Q123K,Silent exm2273906 3 40453442 [T/G] NM_001248,NR_040100 ENTPD3,ENTPD3-AS1 EXON Missense_M142I,Silent exm2051429 3 40457373 [A/T] NM_001248,NR_040100 ENTPD3,ENTPD3-AS1 EXON Missense_T214S,Silent exm2273907 3 40457374 [A/C] NM_001248,NR_040100 ENTPD3,ENTPD3-AS1 EXON Missense_T214N,Silent exm303029 3 40457421 [A/G] NM_001248,NR_040100 ENTPD3,ENTPD3-AS1 EXON Missense_V230M,Silent exm303032 3 40457524 [A/G] NM_001248,NR_040100 ENTPD3,ENTPD3-AS1 EXON Missense_R264Q,Silent exm303034 3 40464363 [T/C] NM_001248,NR_040100 ENTPD3,ENTPD3-AS1 EXON Missense_L285P,Silent exm303035 3 40464372 [T/C] NM_001248,NR_040100 ENTPD3,ENTPD3-AS1 EXON Missense_P288L,Silent exm303047 3 40464893 [A/G] NM_001248,NR_040100 ENTPD3,ENTPD3-AS1 Silent,Silent exm303049 3 40465332 [T/C] NM_001248,NR_040100 ENTPD3,ENTPD3-AS1 EXON Missense_P411S,Silent exm303059 3 40468886 [T/A] NM_001248,NR_040100 ENTPD3,ENTPD3-AS1 EXON Missense_F493I,Silent exm303060 3 40468896 [T/C] NM_001248,NR_040100 ENTPD3,ENTPD3-AS1 EXON Missense_A496V,Silent exm303084 3 40499445 [A/G] NM_003973,NM_001034996 RPL14,RPL14 EXON Missense_K23R,Missense_K23R exm303091 3 40500154 [T/A] NM_003973,NM_001034996 RPL14,RPL14 EXON Missense_T43S,Missense_T43S exm303124 3 40519470 [T/C] NM_001145082,NR_026746,NM_001145093,NM_001145083 ZNF619,ZNF619,ZNF619,ZNF619 EXON Silent,Silent,Silent,Missense_H8Y exm303126 3 40523409 [T/G] NM_001145082,NR_026746,NM_001145093,NM_001145083 ZNF619,ZNF619,ZNF619,ZNF619 EXON Missense_V27G,Silent,Missense_V27G,Silent exm303130 3 40523832 [T/C] NM_001145082,NR_026746,NM_001145093,NM_001145083 ZNF619,ZNF619,ZNF619,ZNF619 EXON Missense_L97S,Silent,Silent,Silent exm303132 3 40524168 [A/G] NM_001145082,NR_026746,NM_001145093,NM_001145083 ZNF619,ZNF619,ZNF619,ZNF619 EXON Missense_G130R,Silent,Missense_G90R,Missense_G46R exm303137 3 40528359 [C/G] NM_001145082,NR_026746,NM_001145093,NM_001145083 ZNF619,ZNF619,ZNF619,ZNF619 EXON Missense_E160Q,Silent,Missense_E120Q,Missense_E76Q exm303146 3 40528670 [C/G] NM_001145082,NR_026746,NM_001145093,NM_001145083 ZNF619,ZNF619,ZNF619,ZNF619 EXON Missense_Q263H,Silent,Missense_Q223H,Missense_Q179H exm303148 3 40528693 [G/C] NM_001145082,NR_026746,NM_001145093,NM_001145083 ZNF619,ZNF619,ZNF619,ZNF619 EXON Missense_P271R,Silent,Missense_P231R,Missense_P187R exm2051479 3 40528791 [G/C] NM_001145082,NR_026746,NM_001145093,NM_001145083 ZNF619,ZNF619,ZNF619,ZNF619 EXON Missense_E304Q,Silent,Missense_E264Q,Missense_E220Q exm303152 3 40528816 [A/G] NM_001145082,NR_026746,NM_001145093,NM_001145083 ZNF619,ZNF619,ZNF619,ZNF619 EXON Missense_N312S,Silent,Missense_N272S,Missense_N228S exm303161 3 40529008 [A/G] NM_001145082,NR_026746,NM_001145093,NM_001145083 ZNF619,ZNF619,ZNF619,ZNF619 EXON Missense_R376Q,Silent,Missense_R336Q,Missense_R292Q exm303162 3 40529046 [T/C] NM_001145082,NR_026746,NM_001145093,NM_001145083 ZNF619,ZNF619,ZNF619,ZNF619 EXON Missense_C389R,Silent,Missense_C349R,Missense_C305R exm303167 3 40529155 [T/C] NM_001145082,NR_026746,NM_001145093,NM_001145083 ZNF619,ZNF619,ZNF619,ZNF619 EXON Missense_S425L,Silent,Missense_S385L,Missense_S341L exm303176 3 40529271 [A/G] NM_001145082,NR_026746,NM_001145093,NM_001145083 ZNF619,ZNF619,ZNF619,ZNF619 EXON Missense_G464R,Silent,Missense_G424R,Missense_G380R exm303178 3 40529317 [A/G] NM_001145082,NR_026746,NM_001145093,NM_001145083 ZNF619,ZNF619,ZNF619,ZNF619 EXON Missense_Q479R,Silent,Missense_Q439R,Missense_Q395R exm303193 3 40529652 [A/G] NM_001145082,NR_026746,NM_001145093,NM_001145083 ZNF619,ZNF619,ZNF619,ZNF619 EXON Missense_I591V,Silent,Missense_I551V,Missense_I507V exm303194 3 40529667 [A/C] NM_001145082,NR_026746,NM_001145093,NM_001145083 ZNF619,ZNF619,ZNF619,ZNF619 EXON Missense_Q596K,Silent,Missense_Q556K,Missense_Q512K exm303196 3 40529671 [T/A] NM_001145082,NR_026746,NM_001145093,NM_001145083 ZNF619,ZNF619,ZNF619,ZNF619 EXON Missense_D597V,Silent,Missense_D557V,Missense_D513V exm303202 3 40547853 [A/G] NM_175888,NM_001256167,NM_001256168 ZNF620,ZNF620,ZNF620 EXON Missense_T4A,Silent,Silent exm303204 3 40552964 [T/C] NM_175888,NM_001256167,NM_001256168 ZNF620,ZNF620,ZNF620 EXON Missense_P10S,Silent,Silent exm303209 3 40553905 [T/C] NM_175888,NM_001256167,NM_001256168 ZNF620,ZNF620,ZNF620 EXON Missense_T55I,Silent,Silent exm303212 3 40553955 [T/C] NM_175888,NM_001256167,NM_001256168 ZNF620,ZNF620,ZNF620 EXON Missense_L72F,Silent,Silent exm303213 3 40553958 [A/G] NM_175888,NM_001256167,NM_001256168 ZNF620,ZNF620,ZNF620 EXON Missense_D73N,Silent,Silent exm303215 3 40553984 [C/G] NM_175888,NM_001256167,NM_001256168 ZNF620,ZNF620,ZNF620 EXON Missense_E81D,Silent,Silent exm303219 3 40557438 [A/G] NM_175888,NM_001256167,NM_001256168 ZNF620,ZNF620,ZNF620 EXON Missense_G118D,Missense_G4D,Missense_G4D exm303220 3 40557443 [A/C] NM_175888,NM_001256167,NM_001256168 ZNF620,ZNF620,ZNF620 EXON Missense_P120T,Missense_P6T,Missense_P6T exm303225 3 40557686 [T/C] NM_175888,NM_001256167,NM_001256168 ZNF620,ZNF620,ZNF620 EXON Missense_C201R,Missense_C87R,Missense_C87R exm303234 3 40557891 [A/T] NM_175888,NM_001256167,NM_001256168 ZNF620,ZNF620,ZNF620 EXON Missense_Q269L,Missense_Q155L,Missense_Q155L exm303236 3 40557933 [A/C] NM_175888,NM_001256167,NM_001256168 ZNF620,ZNF620,ZNF620 EXON Missense_K283T,Missense_K169T,Missense_K169T exm303247 3 40558088 [T/C] NM_175888,NM_001256167,NM_001256168 ZNF620,ZNF620,ZNF620 EXON Missense_P335S,Missense_P221S,Missense_P221S exm303249 3 40558150 [C/G] NM_175888,NM_001256167,NM_001256168 ZNF620,ZNF620,ZNF620 EXON Missense_Q355H,Missense_Q241H,Missense_Q241H exm303278 3 40573556 [A/G] NM_198484,NM_001098414 ZNF621,ZNF621 EXON Missense_I99V,Missense_I99V exm2256019 3 40573621 [T/C] NM_198484,NM_001098414 ZNF621,ZNF621 EXON Synonymous_N120N,Synonymous_N120N exm2051507 3 40573621 [T/C] NM_198484,NM_001098414 ZNF621,ZNF621 EXON Synonymous_N120N,Synonymous_N120N exm303290 3 40573763 [T/C] NM_198484,NM_001098414 ZNF621,ZNF621 EXON Missense_R168W,Missense_R168W exm303299 3 40573904 [A/G] NM_198484,NM_001098414 ZNF621,ZNF621 EXON Missense_G215S,Missense_G215S exm303311 3 40574249 [T/C] NM_198484,NM_001098414 ZNF621,ZNF621 EXON Missense_W330R,Missense_W330R exm303313 3 40574309 [A/G] NM_198484,NM_001098414 ZNF621,ZNF621 EXON Missense_V350I,Missense_V350I exm2256020 3 40825795 [T/C] exm2265440 3 41039907 [A/G] exm-rs10490823 3 41123735 [T/C] exm-rs87938 3 41137672 [A/G] exm303335 3 41266655 [A/G] NM_001904,NM_001098210,NM_001098209 CTNNB1,CTNNB1,CTNNB1 EXON Missense_R151H,Missense_R151H,Missense_R151H exm303349 3 41267276 [A/G] NM_001904,NM_001098210,NM_001098209 CTNNB1,CTNNB1,CTNNB1 EXON Missense_N287S,Missense_N287S,Missense_N287S exm303375 3 41278119 [A/C] NM_001904,NM_001098210,NM_001098209 CTNNB1,CTNNB1,CTNNB1 EXON Missense_D665E,Missense_D665E,Missense_D665E exm303393 3 41288466 [A/G] NM_017886 ULK4 EXON Missense_A1261V exm2239520 3 41288469 [T/C] NM_017886 ULK4 EXON Missense_S1260N exm303395 3 41288472 [T/C] NM_017886 ULK4 EXON Missense_D1259G exm2261497 3 41305804 [T/C] NM_017886 ULK4 Silent exm303418 3 41504594 [A/G] NM_017886 ULK4 EXON Missense_V1126A exm303421 3 41504679 [T/C] NM_017886 ULK4 EXON Missense_K1098E exm303432 3 41705105 [A/C] NM_017886 ULK4 EXON Missense_F1022V exm303441 3 41723053 [T/C] NM_017886 ULK4 EXON Missense_S975N exm303444 3 41723090 [T/C] NM_017886 ULK4 EXON Missense_V963M exm303448 3 41723128 [A/G] NM_017886 ULK4 EXON Missense_F950S exm303449 3 41723244 [G/C] NM_017886 ULK4 EXON Missense_V945L exm2265580 3 41725005 [A/G] NM_017886 ULK4 Silent exm303452 3 41746550 [A/G] NM_017886 ULK4 EXON Missense_T927M exm303453 3 41746556 [T/C] NM_017886 ULK4 EXON Missense_R925H exm303464 3 41756779 [A/G] NM_017886 ULK4 EXON Nonsense_R862X exm303469 3 41756965 [T/C] NM_017886 ULK4 EXON Missense_V851I exm303472 3 41756986 [A/T] NM_017886 ULK4 EXON Missense_L844M exm303473 3 41757003 [T/G] NM_017886 ULK4 EXON Missense_Q838P exm303479 3 41759241 [A/G] NM_017886 ULK4 EXON Nonsense_Q812X exm303480 3 41759262 [A/G] NM_017886 ULK4 EXON Missense_L805F exm303483 3 41759288 [T/C] NM_017886 ULK4 EXON Missense_N796S exm303489 3 41795901 [A/T] NM_017886 ULK4 EXON Missense_Y758F exm303490 3 41795902 [A/G] NM_017886 ULK4 EXON Missense_Y758H exm303495 3 41831187 [T/C] NM_017886 ULK4 EXON Missense_C720Y exm303496 3 41831203 [T/C] NM_017886 ULK4 EXON Missense_A715T exm303503 3 41831290 [T/C] NM_017886 ULK4 EXON Missense_V686I exm303514 3 41841716 [A/C] NM_017886 ULK4 EXON Missense_S640A exm303516 3 41841779 [A/G] NM_017886 ULK4 EXON Missense_R619C exm303519 3 41860923 [A/G] NM_017886 ULK4 EXON Missense_R614W exm303520 3 41860935 [T/A] NM_017886 ULK4 EXON Missense_M610L exm303521 3 41860955 [A/G] NM_017886 ULK4 EXON Missense_L603S exm303524 3 41877387 [A/G] NM_017886 ULK4 EXON Missense_L578P exm303525 3 41877410 [T/G] NM_017886 ULK4 EXON Missense_L570F exm303526 3 41877414 [T/C] NM_017886 ULK4 EXON Missense_K569R exm-rs9815354 3 41912651 [A/G] NM_017886 ULK4 Silent exm303532 3 41925398 [T/C] NM_017886 ULK4 EXON Missense_A542T exm303543 3 41938361 [T/C] NM_017886 ULK4 EXON Missense_V495M exm303544 3 41938364 [C/G] NM_017886 ULK4 EXON Missense_V494L exm303552 3 41939938 [A/G] NM_017886 ULK4 EXON Missense_L445P exm303560 3 41942255 [A/G] NM_017886 ULK4 EXON Missense_S417P exm303567 3 41949348 [A/G] NM_017886 ULK4 EXON Missense_P391S exm303578 3 41952852 [T/C] NM_017886 ULK4 EXON Missense_S348G exm2239522 3 41953040 [T/G] NM_017886 ULK4 EXON Missense_F336L exm303579 3 41953134 [T/C] NM_017886 ULK4 EXON Missense_C305Y exm303590 3 41960006 [T/C] NM_017886 ULK4 EXON Missense_I224V exm303601 3 41973384 [T/C] NM_017886 ULK4 EXON Missense_D165N exm303603 3 41973460 [C/G] NM_017886 ULK4 EXON Missense_N139K exm303604 3 41973462 [T/C] NM_017886 ULK4 EXON Missense_N139D exm303619 3 41996136 [T/C] NM_017886 ULK4 EXON Missense_K39R exm2256022 3 42131415 [A/G] exm303626 3 42132983 [A/G] NM_001265608,NM_001042646 TRAK1,TRAK1 EXON Missense_G8R,Missense_G8R exm303633 3 42166936 [T/C] NM_001265608,NM_001042646 TRAK1,TRAK1 EXON Missense_P39L,Missense_P39L exm303637 3 42166995 [A/G] NM_001265608,NM_001042646 TRAK1,TRAK1 EXON Missense_D59N,Missense_D59N exm303668 3 42229550 [A/G] NM_001265608,NM_001042646,NM_001265609,NM_001265610,NM_014965 TRAK1,TRAK1,TRAK1,TRAK1,TRAK1 EXON Missense_R165Q,Missense_R165Q,Missense_R91Q,Missense_R91Q,Missense_R107Q exm303672 3 42230546 [A/G] NM_001265608,NM_001042646,NM_001265609,NM_001265610,NM_014965 TRAK1,TRAK1,TRAK1,TRAK1,TRAK1 EXON Missense_Y207C,Missense_Y207C,Missense_Y133C,Missense_Y133C,Missense_Y149C exm303714 3 42242363 [A/G] NM_001265608,NM_001042646,NM_001265609,NM_001265610,NM_014965 TRAK1,TRAK1,TRAK1,TRAK1,TRAK1 EXON Missense_Q415R,Missense_Q415R,Missense_Q341R,Missense_Q341R,Missense_Q357R exm303727 3 42242483 [T/G] NM_001265608,NM_001042646,NM_001265609,NM_001265610,NM_014965 TRAK1,TRAK1,TRAK1,TRAK1,TRAK1 EXON Missense_G455V,Missense_G455V,Missense_G381V,Missense_G381V,Missense_G397V exm303730 3 42242539 [A/G] NM_001265608,NM_001042646,NM_001265609,NM_001265610,NM_014965 TRAK1,TRAK1,TRAK1,TRAK1,TRAK1 EXON Missense_D474N,Missense_D474N,Missense_D400N,Missense_D400N,Missense_D416N exm303732 3 42243951 [T/C] NM_001265608,NM_001042646,NM_001265609,NM_001265610,NM_014965 TRAK1,TRAK1,TRAK1,TRAK1,TRAK1 EXON Missense_P484L,Missense_P484L,Missense_P410L,Missense_P410L,Missense_P426L exm303737 3 42244049 [A/G] NM_001265608,NM_001042646,NM_001265609,NM_001265610,NM_014965 TRAK1,TRAK1,TRAK1,TRAK1,TRAK1 EXON Missense_E517K,Missense_E517K,Missense_E443K,Missense_E443K,Missense_E459K exm303747 3 42244172 [A/G] NM_001265608,NM_001042646,NM_001265609,NM_001265610,NM_014965 TRAK1,TRAK1,TRAK1,TRAK1,TRAK1 EXON Missense_G558S,Missense_G558S,Missense_G484S,Missense_G484S,Missense_G500S exm303770 3 42251436 [A/G] NM_001265608,NM_001042646,NM_001265609,NM_014965 TRAK1,TRAK1,TRAK1,TRAK1 EXON Missense_R641H,Missense_R641H,Missense_R567H,Missense_R583H exm303774 3 42251498 [G/C] NM_001265608,NM_001042646,NM_001265609,NM_014965 TRAK1,TRAK1,TRAK1,TRAK1 EXON Missense_V662L,Silent,Missense_V588L,Missense_V604L exm303798 3 42251703 [T/G] NM_001265608,NM_001042646,NM_001265609,NM_014965 TRAK1,TRAK1,TRAK1,TRAK1 EXON Missense_I730S,Silent,Missense_I656S,Missense_I672S exm303799 3 42251706 [A/G] NM_001265608,NM_001042646,NM_001265609,NM_014965 TRAK1,TRAK1,TRAK1,TRAK1 EXON Missense_R731H,Silent,Missense_R657H,Missense_R673H exm303807 3 42264468 [A/C] NM_001042646 TRAK1 EXON Missense_T701P exm303818 3 42264712 [T/C] NM_001042646 TRAK1 EXON Missense_P782L exm303820 3 42264721 [T/C] NM_001042646 TRAK1 EXON Missense_S785L exm303831 3 42264946 [A/G] NM_001042646 TRAK1 EXON Missense_R860Q exm303832 3 42264948 [A/G] NM_001042646 TRAK1 EXON Missense_A861T exm303843 3 42265099 [A/G] NM_001042646 TRAK1 EXON Missense_N911S exm303851 3 42265174 [T/C] NM_001042646 TRAK1 EXON Missense_L936P exm2269440 3 42417576 [T/C] exm2051714 3 42448377 [T/C] NM_144634 LYZL4 EXON Missense_G85S exm303893 3 42448455 [A/G] NM_144634 LYZL4 EXON Missense_P59S exm-rs2286720 3 42448471 [A/G] NM_144634 LYZL4 EXON Synonymous_F53F exm303896 3 42448647 [T/C] NM_144634 LYZL4 EXON Missense_D33N exm303900 3 42448725 [T/G] NM_144634 LYZL4 EXON Missense_L7I exm2239535 3 42555244 [A/G] NM_001251882,NM_001251884,NM_001251883,NM_004624,NM_001251885 VIPR1,VIPR1,VIPR1,VIPR1,VIPR1 EXON Silent,Silent,Silent,Missense_G28S,Silent exm303910 3 42555275 [A/C] NM_001251882,NM_001251884,NM_001251883,NM_004624,NM_001251885 VIPR1,VIPR1,VIPR1,VIPR1,VIPR1 EXON Silent,Silent,Silent,Missense_D38A,Missense_D11A exm303912 3 42555323 [A/C] NM_001251882,NM_001251884,NM_001251883,NM_004624,NM_001251885 VIPR1,VIPR1,VIPR1,VIPR1,VIPR1 EXON Missense_A13D,Silent,Silent,Missense_A54D,Missense_A27D exm303921 3 42560796 [T/C] NM_001251882,NM_001251884,NM_001251883,NM_004624,NM_001251885 VIPR1,VIPR1,VIPR1,VIPR1,VIPR1 EXON Missense_I48T,Missense_I42T,Silent,Missense_I89T,Missense_I62T exm303922 3 42567381 [A/C] NM_001251882,NM_001251884,NM_001251883,NM_004624,NM_001251885 VIPR1,VIPR1,VIPR1,VIPR1,VIPR1 EXON Missense_R58S,Missense_R52S,Silent,Missense_R99S,Missense_R72S exm303928 3 42567463 [A/G] NM_001251882,NM_001251884,NM_001251883,NM_004624,NM_001251885 VIPR1,VIPR1,VIPR1,VIPR1,VIPR1 EXON Missense_D85G,Missense_D79G,Missense_T2A,Missense_D126G,Missense_D99G exm303953 3 42569593 [T/C] NM_001251882,NM_001251884,NM_001251883,NM_004624,NM_001251885 VIPR1,VIPR1,VIPR1,VIPR1,VIPR1 EXON Missense_S164L,Missense_S157L,Silent,Missense_S205L,Missense_S178L exm303955 3 42572286 [A/G] NM_001251882,NM_001251884,NM_001251883,NM_004624,NM_001251885 VIPR1,VIPR1,VIPR1,VIPR1,VIPR1 EXON Missense_A177T,Missense_A170T,Synonymous_Q14Q,Missense_A218T,Missense_A191T exm303968 3 42573022 [A/G] NM_001251882,NM_001251884,NM_001251883,NM_004624,NM_001251885 VIPR1,VIPR1,VIPR1,VIPR1,VIPR1 EXON Missense_G243R,Missense_G236R,Missense_G74R,Missense_G284R,Missense_G257R exm2051752 3 42577733 [T/G] NM_001251882,NM_001251884,NM_001251883,NM_004624,NM_001251885 VIPR1,VIPR1,VIPR1,VIPR1,VIPR1 EXON Missense_R404L,Missense_R397L,Missense_R235L,Missense_R445L,Missense_R418L exm304009 3 42590119 [T/G] NM_001201584,NM_032970,NM_004206,NM_001201572 SEC22C,SEC22C,SEC22C,SEC22C EXON Missense_Q226K,Silent,Missense_Q248K,Missense_Q248K exm304017 3 42599125 [A/G] NM_001201584,NM_032970,NM_004206,NM_001201572 SEC22C,SEC22C,SEC22C,SEC22C EXON Missense_M197T,Missense_M197T,Missense_M197T,Missense_M197T exm304020 3 42599171 [T/C] NM_001201584,NM_032970,NM_004206,NM_001201572 SEC22C,SEC22C,SEC22C,SEC22C EXON Missense_E182K,Missense_E182K,Missense_E182K,Missense_E182K exm304026 3 42602642 [T/C] NM_001201584,NM_032970,NM_004206,NM_001201572 SEC22C,SEC22C,SEC22C,SEC22C EXON Missense_M165V,Missense_M165V,Missense_M165V,Missense_M165V exm304030 3 42602773 [T/C] NM_001201584,NM_032970,NM_004206,NM_001201572 SEC22C,SEC22C,SEC22C,SEC22C EXON Missense_K121R,Missense_K121R,Missense_K121R,Missense_K121R exm304035 3 42610411 [T/C] NM_001201584,NM_032970,NM_004206,NM_001201572 SEC22C,SEC22C,SEC22C,SEC22C EXON Missense_R43Q,Missense_R43Q,Missense_R43Q,Missense_R43Q exm2256024 3 42660516 [A/G] NM_005385 NKTR EXON Synonymous_E46E exm2239538 3 42672803 [A/C] NM_005385 NKTR EXON Missense_K182T exm304070 3 42674094 [T/C] NM_005385 NKTR EXON Synonymous_V184V exm304076 3 42674162 [A/C] NM_005385 NKTR EXON Missense_S207Y exm304079 3 42674218 [T/C] NM_005385 NKTR EXON Missense_H226Y exm304081 3 42675110 [T/G] NM_005385 NKTR EXON Missense_V271G exm304084 3 42675205 [T/G] NM_005385 NKTR EXON Missense_V303F exm304085 3 42675220 [T/C] NM_005385 NKTR EXON Missense_P308S exm304088 3 42676140 [A/G] NM_005385 NKTR EXON Missense_Q322R exm2239539 3 42678413 [C/G] NM_005385 NKTR EXON Missense_S406C exm2051782 3 42678463 [T/C] NM_005385 NKTR EXON Missense_H423Y exm304103 3 42678484 [T/C] NM_005385 NKTR EXON Missense_R430C exm304105 3 42678571 [T/A] NM_005385 NKTR EXON Missense_I459F exm304107 3 42678591 [A/G] NM_005385 NKTR EXON Missense_I465M exm2239540 3 42678639 [A/T] NM_005385 NKTR EXON Missense_R481S exm304115 3 42678946 [T/C] NM_005385 NKTR EXON Missense_P584S exm304117 3 42679132 [A/G] NM_005385 NKTR EXON Missense_I646V exm304125 3 42679382 [A/G] NM_005385 NKTR EXON Missense_R729Q exm304130 3 42679486 [A/G] NM_005385 NKTR EXON Missense_K764E exm2273908 3 42679555 [A/G] NM_005385 NKTR EXON Missense_K787E exm304142 3 42679777 [T/G] NM_005385 NKTR EXON Missense_L861V exm304151 3 42679966 [A/G] NM_005385 NKTR EXON Missense_E924K exm304153 3 42679979 [A/C] NM_005385 NKTR EXON Missense_K928T exm304154 3 42680000 [T/C] NM_005385 NKTR EXON Missense_S935L exm304157 3 42680033 [G/C] NM_005385 NKTR EXON Missense_G946A exm304160 3 42680088 [T/G] NM_005385 NKTR EXON Missense_C964W exm304174 3 42680555 [A/G] NM_005385 NKTR EXON Missense_E1120G exm304187 3 42680854 [A/G] NM_005385 NKTR EXON Missense_N1220D exm304189 3 42680890 [A/G] NM_005385 NKTR EXON Missense_V1232M exm304195 3 42681053 [A/G] NM_005385 NKTR EXON Missense_R1286H exm304208 3 42684016 [A/G] NM_005385 NKTR EXON Missense_R1357Q exm304238 3 42700697 [A/G] NM_145166 ZBTB47 EXON Missense_E284K exm304246 3 42701000 [A/G] NM_145166 ZBTB47 EXON Missense_A385T exm304256 3 42701069 [A/C] NM_145166 ZBTB47 EXON Missense_P408T exm304261 3 42701123 [A/G] NM_145166 ZBTB47 EXON Missense_A426T exm304264 3 42701205 [A/C] NM_145166 ZBTB47 EXON Missense_K453T exm304271 3 42703029 [A/G] NM_145166 ZBTB47 EXON Missense_N509S exm304294 3 42727198 [A/G] NM_152393 KLHL40 EXON Missense_G30S exm304295 3 42727207 [T/C] NM_152393 KLHL40 EXON Missense_L33F exm304304 3 42727348 [G/C] NM_152393 KLHL40 EXON Missense_D80H exm2051829 3 42727387 [C/G] NM_152393 KLHL40 EXON Missense_E93Q exm304330 3 42727946 [T/G] NM_152393 KLHL40 EXON Missense_G279V exm304331 3 42727979 [A/C] NM_152393 KLHL40 EXON Missense_A290D exm304332 3 42727982 [A/C] NM_152393 KLHL40 EXON Missense_K291T exm304335 3 42728078 [T/G] NM_152393 KLHL40 EXON Missense_I323S exm304337 3 42728144 [A/G] NM_152393 KLHL40 EXON Missense_N345S exm304346 3 42729664 [A/G] NM_152393 KLHL40 EXON Missense_M395V exm304351 3 42729754 [A/G] NM_152393 KLHL40 EXON Missense_G425S exm2239544 3 42729761 [A/G] NM_152393 KLHL40 EXON Missense_R427H exm304369 3 42730434 [A/G] NM_152393 KLHL40 EXON Missense_A499T exm304370 3 42730479 [A/G] NM_152393 KLHL40 EXON Missense_V514M exm2261499 3 42732236 [T/C] NM_152393 KLHL40 Silent exm304378 3 42732383 [A/G] NM_152393 KLHL40 EXON Missense_R547H exm304383 3 42732452 [T/C] NM_152393 KLHL40 EXON Missense_T570M exm304385 3 42732481 [A/C] NM_152393 KLHL40 EXON Missense_L580I exm304387 3 42733381 [A/G] NM_152393 KLHL40 EXON Missense_E588K exm304390 3 42733420 [A/G] NM_152393 KLHL40 EXON Missense_A601T exm304397 3 42733468 [T/C] NM_152393 KLHL40 EXON Missense_C617R exm304408 3 42734343 [A/G] NM_020707,NR_027753 HHATL,HHATL EXON Missense_I472T,Silent exm304411 3 42734587 [G/C] NM_020707,NR_027753 HHATL,HHATL EXON Missense_R458G,Silent exm304425 3 42735117 [A/G] NM_020707,NR_027753 HHATL,HHATL EXON Nonsense_R414X,Silent exm304426 3 42735150 [T/C] NM_020707,NR_027753 HHATL,HHATL EXON Missense_M403V,Silent exm304428 3 42735207 [A/C] NM_020707,NR_027753 HHATL,HHATL EXON Missense_D384Y,Silent exm304429 3 42735237 [T/C] NM_020707,NR_027753 HHATL,HHATL EXON Missense_A374T,Silent exm304434 3 42735299 [T/C] NM_020707,NR_027753 HHATL,HHATL EXON Missense_N353S,Silent exm304435 3 42735302 [T/G] NM_020707,NR_027753 HHATL,HHATL EXON Missense_Y352S,Silent exm2239547 3 42738342 [A/C] NM_020707,NR_027753 HHATL,HHATL EXON Missense_W346C,Silent exm304439 3 42738359 [A/G] NM_020707,NR_027753 HHATL,HHATL EXON Missense_R341C,Silent exm304442 3 42738533 [T/G] NM_020707,NR_027753 HHATL,HHATL EXON Missense_P324T,Silent exm2256025 3 42738594 [T/C] NM_020707,NR_027753 HHATL,HHATL EXON Synonymous_A303A,Silent exm304455 3 42739144 [T/C] NM_020707,NR_027753 HHATL,HHATL EXON Missense_E241K,Silent exm304459 3 42739695 [T/C] NM_020707,NR_027753 HHATL,HHATL EXON Missense_N211S,Silent exm2273909 3 42739729 [A/G] NM_020707,NR_027753 HHATL,HHATL EXON Missense_R200C,Silent exm304465 3 42739785 [A/C] NM_020707,NR_027753 HHATL,HHATL EXON Missense_S181I,Silent exm304471 3 42740283 [C/G] NM_020707,NR_027753 HHATL,HHATL EXON Missense_L134V,Silent exm304476 3 42740367 [T/C] NM_020707,NR_027753 HHATL,HHATL EXON Missense_G106R,Silent exm2051886 3 42740540 [A/G] NM_020707,NR_027753 HHATL,HHATL EXON Missense_T91M,Silent exm304479 3 42740553 [A/C] NM_020707,NR_027753 HHATL,HHATL EXON Missense_A87S,Silent exm304482 3 42740576 [A/G] NM_020707,NR_027753 HHATL,HHATL EXON Missense_A79V,Silent exm304485 3 42740594 [T/C] NM_020707,NR_027753 HHATL,HHATL EXON Missense_R73H,Silent exm304489 3 42741282 [A/G] NM_020707,NR_027753 HHATL,HHATL EXON Nonsense_R48X,Silent exm304493 3 42742237 [A/G] NM_020707,NR_027753 HHATL,HHATL EXON Missense_R28W,Silent exm2051896 3 42750516 [T/C] NM_144719 CCDC13 EXON Missense_V702I exm304508 3 42751241 [A/C] NM_144719 CCDC13 EXON Missense_K641N exm304509 3 42751249 [T/C] NM_144719 CCDC13 EXON Missense_E639K exm304514 3 42754660 [T/C] NM_144719 CCDC13 EXON Missense_K623E exm304515 3 42754693 [T/C] NM_144719 CCDC13 EXON Missense_A612T exm304533 3 42775053 [T/C] NM_144719,NR_046732 CCDC13,CCDC13-AS1 EXON Missense_S474G,Silent exm304540 3 42775098 [A/G] NM_144719,NR_046732 CCDC13,CCDC13-AS1 EXON Missense_L459F,Silent exm304542 3 42777240 [T/C] NM_144719,NR_046732 CCDC13,CCDC13-AS1 EXON Missense_V444M,Silent exm304546 3 42777347 [A/G] NM_144719,NR_046732 CCDC13,CCDC13-AS1 EXON Missense_T408M,Silent exm2256026 3 42777369 [A/G] NM_144719,NR_046732 CCDC13,CCDC13-AS1 EXON Synonymous_L401L,Silent exm304558 3 42784419 [A/C] NM_144719,NR_046732 CCDC13,CCDC13-AS1 EXON Missense_S319I,Silent exm2051915 3 42784452 [A/G] NM_144719,NR_046732 CCDC13,CCDC13-AS1 EXON Missense_S308L,Silent exm2256027 3 42787469 [A/G] NM_144719 CCDC13 EXON Synonymous_S257S exm304566 3 42787486 [T/C] NM_144719 CCDC13 EXON Missense_V252I exm304568 3 42788771 [T/C] NM_144719 CCDC13 EXON Missense_Q233R exm304569 3 42788795 [T/C] NM_144719 CCDC13 EXON Missense_R225Q exm304571 3 42788823 [A/C] NM_144719 CCDC13 EXON Missense_A216S exm304582 3 42794071 [T/C] NM_144719 CCDC13 EXON Missense_R170Q exm304584 3 42794123 [G/C] NM_144719 CCDC13 EXON Missense_G153R exm2239552 3 42794186 [C/G] NM_144719 CCDC13 EXON Missense_V132L exm304597 3 42798677 [T/C] NM_144719 CCDC13 EXON Missense_R84Q exm304602 3 42799674 [T/C] NM_144719 CCDC13 EXON Missense_D55G exm304606 3 42799765 [A/G] NM_144719 CCDC13 EXON Missense_R25W exm304609 3 42799804 [A/G] NM_144719 CCDC13 EXON Missense_R12W exm2239553 3 42814668 [A/T] NM_144719 CCDC13 EXON Silent exm2269441 3 42890731 [T/C] NM_001296 CCBP2 Silent exm304627 3 42906116 [T/C] NM_001296 CCBP2 EXON Missense_V41A exm304638 3 42906386 [A/G] NM_001296 CCBP2 EXON Missense_G131D exm304658 3 42906629 [T/C] NM_001296 CCBP2 EXON Missense_F212S exm304659 3 42906647 [G/C] NM_001296 CCBP2 EXON Missense_G218A exm304663 3 42906692 [T/C] NM_001296 CCBP2 EXON Missense_I233T exm2256028 3 42906864 [A/G] NM_001296 CCBP2 EXON Synonymous_L290L exm304673 3 42906871 [A/G] NM_001296 CCBP2 EXON Missense_A293T exm304677 3 42906925 [G/C] NM_001296 CCBP2 EXON Missense_L311V exm304678 3 42906941 [T/G] NM_001296 CCBP2 EXON Missense_S316I exm304681 3 42906953 [A/G] NM_001296 CCBP2 EXON Missense_R320H exm304685 3 42907076 [T/G] NM_001296 CCBP2 EXON Missense_G361V exm304686 3 42907112 [A/C] NM_001296 CCBP2 EXON Missense_Y373S exm304699 3 42916000 [T/C] NM_004391 CYP8B1 EXON Missense_V437I exm304708 3 42916105 [T/C] NM_004391 CYP8B1 EXON Missense_V402I exm304712 3 42916240 [A/G] NM_004391 CYP8B1 EXON Missense_L357F exm2275661 3 42916283 [A/G] NM_004391 CYP8B1 EXON Synonymous_S342S exm304721 3 42916392 [T/C] NM_004391 CYP8B1 EXON Missense_R306Q exm304730 3 42916596 [T/C] NM_004391 CYP8B1 EXON Missense_K238R exm304735 3 42916726 [T/C] NM_004391 CYP8B1 EXON Missense_D195N exm304737 3 42916751 [T/G] NM_004391 CYP8B1 EXON Missense_F186L exm304738 3 42916797 [T/C] NM_004391 CYP8B1 EXON Missense_R171H exm2051966 3 42916798 [A/G] NM_004391 CYP8B1 EXON Missense_R171C exm2239556 3 42917004 [T/C] NM_004391 CYP8B1 EXON Missense_Y102C exm304749 3 42917047 [A/G] NM_004391 CYP8B1 EXON Missense_S88P exm304752 3 42917071 [T/C] NM_004391 CYP8B1 EXON Missense_V80I exm304757 3 42917160 [T/C] NM_004391 CYP8B1 EXON Missense_R50Q exm-rs4682869 3 42923964 [T/C] exm304774 3 42950306 [T/C] NM_207404,NM_001134656 ZNF662,ZNF662 EXON Missense_P19L,Missense_P79L exm304776 3 42950329 [T/C] NM_207404,NM_001134656 ZNF662,ZNF662 EXON Nonsense_R27X,Nonsense_R87X exm304781 3 42954777 [G/C] NM_207404,NM_001134656 ZNF662,ZNF662 EXON Missense_P79R,Silent exm304782 3 42954792 [T/C] NM_207404,NM_001134656 ZNF662,ZNF662 EXON Missense_P84L,Silent exm304783 3 42954793 [A/G] NM_207404,NM_001134656 ZNF662,ZNF662 EXON Synonymous_P84P,Silent exm304787 3 42955899 [T/G] NM_207404,NM_001134656 ZNF662,ZNF662 EXON Missense_S112A,Missense_S138A exm304788 3 42955915 [C/G] NM_207404,NM_001134656 ZNF662,ZNF662 EXON Missense_W117S,Missense_W143S exm304792 3 42956026 [T/C] NM_207404,NM_001134656 ZNF662,ZNF662 EXON Missense_I154T,Missense_I180T exm304796 3 42956211 [A/G] NM_207404,NM_001134656 ZNF662,ZNF662 EXON Missense_G216R,Missense_G242R exm304806 3 42956454 [A/C] NM_207404,NM_001134656 ZNF662,ZNF662 EXON Missense_I297L,Missense_I323L exm304811 3 42956670 [T/G] NM_207404,NM_001134656 ZNF662,ZNF662 EXON Missense_F369V,Missense_F395V exm304812 3 42956694 [T/C] NM_207404,NM_001134656 ZNF662,ZNF662 EXON Nonsense_R377X,Nonsense_R403X exm304816 3 42956738 [T/G] NM_207404,NM_001134656 ZNF662,ZNF662 EXON Missense_N391K,Missense_N417K exm304817 3 42956773 [T/C] NM_207404,NM_001134656 ZNF662,ZNF662 EXON Missense_L403S,Missense_L429S exm304818 3 42956790 [T/C] NM_207404,NM_001134656 ZNF662,ZNF662 EXON Missense_R409C,Missense_R435C exm304827 3 43073796 [A/G] NM_001129908 FAM198A EXON Missense_R14Q exm304837 3 43074303 [T/C] NM_001129908 FAM198A EXON Missense_P183L exm304839 3 43074371 [C/G] NM_001129908 FAM198A EXON Missense_A206P exm304842 3 43074434 [T/C] NM_001129908 FAM198A EXON Missense_H227Y exm304843 3 43074492 [T/C] NM_001129908 FAM198A EXON Missense_T246M exm304858 3 43095101 [A/G] NM_001129908 FAM198A EXON Missense_Q460R exm304859 3 43095112 [A/G] NM_001129908 FAM198A EXON Missense_E464K exm304861 3 43095119 [A/G] NM_001129908 FAM198A EXON Missense_R466Q exm304868 3 43096966 [A/G] NM_001129908 FAM198A EXON Missense_A486T exm304871 3 43097765 [A/G] NM_001129908 FAM198A EXON Missense_G539S exm304872 3 43097810 [T/C] NM_001129908 FAM198A EXON Nonsense_R554X exm304879 3 43121258 [A/C] NM_032806 GTDC2 EXON Missense_Y556D exm304883 3 43121410 [G/C] NM_032806 GTDC2 EXON Missense_S505C exm304891 3 43121509 [T/C] NM_032806 GTDC2 EXON Missense_R472Q exm304895 3 43121522 [A/G] NM_032806 GTDC2 EXON Missense_R468W exm304897 3 43121534 [T/C] NM_032806 GTDC2 EXON Missense_V464M exm304899 3 43121539 [A/C] NM_032806 GTDC2 EXON Missense_R462L exm304900 3 43121540 [A/G] NM_032806 GTDC2 EXON Missense_R462W exm304912 3 43121705 [A/G] NM_032806 GTDC2 EXON Missense_R407W exm304915 3 43121762 [A/G] NM_032806 GTDC2 EXON Missense_L388F exm304921 3 43121854 [T/C] NM_032806 GTDC2 EXON Missense_R357H exm304922 3 43121914 [T/C] NM_032806 GTDC2 EXON Missense_N337S exm2051997 3 43121968 [A/G] NM_032806 GTDC2 EXON Missense_V319A exm304933 3 43122095 [T/C] NM_032806 GTDC2 EXON Missense_V277M exm304943 3 43122250 [T/C] NM_032806 GTDC2 EXON Missense_R225Q exm304948 3 43122289 [T/C] NM_032806 GTDC2 EXON Missense_K212R exm304953 3 43122374 [T/C] NM_032806 GTDC2 EXON Missense_G184S exm2052001 3 43122425 [T/C] NM_032806 GTDC2 EXON Missense_V167I exm304959 3 43122436 [T/C] NM_032806 GTDC2 EXON Missense_N163S exm2052002 3 43122470 [T/C] NM_032806 GTDC2 EXON Missense_V152M exm304968 3 43122503 [A/G] NM_032806 GTDC2 EXON Missense_R141C exm2052003 3 43122527 [T/C] NM_032806 GTDC2 EXON Missense_V133M exm304971 3 43122560 [T/C] NM_032806 GTDC2 EXON Missense_V122M exm304976 3 43122685 [T/C] NM_032806 GTDC2 EXON Missense_R80H exm2052005 3 43122805 [T/C] NM_032806 GTDC2 EXON Missense_R40Q exm304987 3 43122847 [T/C] NM_032806 GTDC2 EXON Missense_R26H exm304988 3 43122853 [T/C] NM_032806 GTDC2 EXON Missense_R24Q exm2265442 3 43174229 [A/G] exm-rs17075286 3 43230723 [C/G] exm2261500 3 43334020 [A/G] NM_001100594,NM_017719 SNRK,SNRK Silent,Silent exm305029 3 43388922 [T/C] NM_001100594,NM_017719,NR_046757 SNRK,SNRK,SNRK-AS1 EXON Missense_P391S,Missense_P391S,Silent exm305057 3 43389648 [A/G] NM_001100594,NM_017719,NR_046757 SNRK,SNRK,SNRK-AS1 EXON Missense_M633V,Missense_M633V,Silent exm305059 3 43389699 [A/G] NM_001100594,NM_017719,NR_046757 SNRK,SNRK,SNRK-AS1 EXON Missense_M650V,Missense_M650V,Silent exm305060 3 43389767 [T/G] NM_001100594,NM_017719,NR_046757 SNRK,SNRK,SNRK-AS1 EXON Missense_L672F,Missense_L672F,Silent exm305065 3 43389858 [A/G] NM_001100594,NM_017719,NR_046757 SNRK,SNRK,SNRK-AS1 EXON Missense_G703S,Missense_G703S,Silent exm305067 3 43389910 [A/G] NM_001100594,NM_017719,NR_046757 SNRK,SNRK,SNRK-AS1 EXON Missense_R720Q,Missense_R720Q,Silent exm305083 3 43408427 [T/C] NM_001204831,NM_001204834,NM_001204832,NM_018075,NM_001204833 ANO10,ANO10,ANO10,ANO10,ANO10 EXON Silent,Missense_M462V,Missense_M586V,Missense_M652V,Missense_M541V exm305087 3 43474153 [T/C] NM_001204831,NM_001204834,NM_001204832,NM_018075,NM_001204833 ANO10,ANO10,ANO10,ANO10,ANO10 EXON Silent,Missense_M432V,Missense_M556V,Missense_M622V,Missense_M511V exm305089 3 43474174 [T/C] NM_001204831,NM_001204834,NM_001204832,NM_018075,NM_001204833 ANO10,ANO10,ANO10,ANO10,ANO10 EXON Silent,Missense_D425N,Missense_D549N,Missense_D615N,Missense_D504N exm305096 3 43591327 [A/G] NM_001204831,NM_001204834,NM_001204832,NM_018075,NM_001204833 ANO10,ANO10,ANO10,ANO10,ANO10 EXON Missense_T561M,Missense_T371M,Missense_T495M,Missense_T561M,Missense_T450M exm305107 3 43602803 [T/C] NM_001204831,NM_001204834,NM_001204832,NM_018075,NM_001204833 ANO10,ANO10,ANO10,ANO10,ANO10 EXON Missense_R462Q,Missense_R272Q,Missense_R396Q,Missense_R462Q,Missense_R351Q exm305121 3 43618202 [T/C] NM_001204831,NM_001204834,NM_001204832,NM_018075,NM_001204833 ANO10,ANO10,ANO10,ANO10,ANO10 EXON Missense_E382K,Silent,Missense_E316K,Missense_E382K,Missense_E271K exm305122 3 43618213 [T/C] NM_001204831,NM_001204834,NM_001204832,NM_018075,NM_001204833 ANO10,ANO10,ANO10,ANO10,ANO10 EXON Missense_R378Q,Silent,Missense_R312Q,Missense_R378Q,Missense_R267Q exm305126 3 43618280 [T/C] NM_001204831,NM_001204834,NM_001204832,NM_018075,NM_001204833 ANO10,ANO10,ANO10,ANO10,ANO10 EXON Missense_S356G,Silent,Missense_S290G,Missense_S356G,Missense_S245G exm2273910 3 43618334 [T/C] NM_001204831,NM_001204834,NM_001204832,NM_018075,NM_001204833 ANO10,ANO10,ANO10,ANO10,ANO10 EXON Missense_D338N,Silent,Missense_D272N,Missense_D338N,Missense_D227N exm305137 3 43618462 [T/C] NM_001204831,NM_001204834,NM_001204832,NM_018075,NM_001204833 ANO10,ANO10,ANO10,ANO10,ANO10 EXON Missense_N295S,Silent,Missense_N229S,Missense_N295S,Missense_N184S exm305141 3 43618504 [A/G] NM_001204831,NM_001204834,NM_001204832,NM_018075,NM_001204833 ANO10,ANO10,ANO10,ANO10,ANO10 EXON Missense_F281S,Silent,Missense_F215S,Missense_F281S,Missense_F170S exm2052065 3 43618547 [T/C] NM_001204831,NM_001204834,NM_001204832,NM_018075,NM_001204833 ANO10,ANO10,ANO10,ANO10,ANO10 EXON Missense_N267D,Silent,Missense_N201D,Missense_N267D,Missense_N156D exm305144 3 43618558 [T/C] NM_001204831,NM_001204834,NM_001204832,NM_018075,NM_001204833 ANO10,ANO10,ANO10,ANO10,ANO10 EXON Missense_R263H,Silent,Missense_R197H,Missense_R263H,Missense_R152H exm305155 3 43618696 [T/C] NM_001204831,NM_001204834,NM_001204832,NM_018075,NM_001204833 ANO10,ANO10,ANO10,ANO10,ANO10 EXON Missense_Y217C,Silent,Missense_Y151C,Missense_Y217C,Missense_Y106C exm305161 3 43621871 [T/C] NM_001204831,NM_001204834,NM_001204832,NM_018075,NM_001204833 ANO10,ANO10,ANO10,ANO10,ANO10 EXON Missense_R189Q,Missense_R189Q,Missense_R123Q,Missense_R189Q,Missense_R78Q exm305173 3 43641977 [A/C] NM_001204831,NM_001204834,NM_001204832,NM_018075,NM_001204833 ANO10,ANO10,ANO10,ANO10,ANO10 EXON Missense_M79R,Missense_M79R,Silent,Missense_M79R,Silent exm305186 3 43647257 [C/G] NM_001204831,NM_001204834,NM_001204832,NM_018075,NM_001204833 ANO10,ANO10,ANO10,ANO10,ANO10 EXON Missense_E30Q,Missense_E30Q,Missense_E30Q,Missense_E30Q,Missense_E30Q exm305187 3 43647259 [T/C] NM_001204831,NM_001204834,NM_001204832,NM_018075,NM_001204833 ANO10,ANO10,ANO10,ANO10,ANO10 EXON Missense_E29G,Missense_E29G,Missense_E29G,Missense_E29G,Missense_E29G exm305188 3 43647271 [T/G] NM_001204831,NM_001204834,NM_001204832,NM_018075,NM_001204833 ANO10,ANO10,ANO10,ANO10,ANO10 EXON Missense_Q25P,Missense_Q25P,Missense_Q25P,Missense_Q25P,Missense_Q25P exm305210 3 43743718 [A/G] NM_016006 ABHD5 EXON Missense_T49A exm305212 3 43743774 [G/C] NM_016006 ABHD5 EXON Missense_K67N exm305213 3 43743775 [T/C] NM_016006 ABHD5 EXON Missense_F68L exm2239570 3 43743788 [T/C] NM_016006 ABHD5 EXON Missense_I72T exm305219 3 43743914 [T/G] NM_016006 ABHD5 EXON Missense_R114L exm2052084 3 43743972 [A/C] NM_016006 ABHD5 EXON Missense_E133D exm2239571 3 43753322 [C/G] NM_016006 ABHD5 EXON Missense_P210A exm2269442 3 43902170 [T/C] exm2261501 3 44105159 [A/G] exm2265443 3 44141157 [A/G] exm305261 3 44283808 [A/C] NM_001145030 TOPAZ1 EXON Missense_P88Q exm305263 3 44283844 [T/C] NM_001145030 TOPAZ1 EXON Missense_L100P exm305267 3 44284584 [A/G] NM_001145030 TOPAZ1 EXON Missense_V196I exm2239575 3 44284764 [A/G] NM_001145030 TOPAZ1 EXON Missense_A256T exm305273 3 44284822 [A/G] NM_001145030 TOPAZ1 EXON Missense_N275S exm305279 3 44285146 [A/G] NM_001145030 TOPAZ1 EXON Missense_K383R exm305283 3 44285287 [A/C] NM_001145030 TOPAZ1 EXON Missense_N430T exm305290 3 44285446 [A/G] NM_001145030 TOPAZ1 EXON Missense_Q483R exm305300 3 44286015 [C/G] NM_001145030 TOPAZ1 EXON Missense_P673A exm305303 3 44286207 [A/G] NM_001145030 TOPAZ1 EXON Missense_M737V exm305308 3 44286384 [A/G] NM_001145030 TOPAZ1 EXON Missense_K796E exm305312 3 44286631 [A/G] NM_001145030 TOPAZ1 EXON Missense_N878S exm305338 3 44345521 [A/G] NM_001145030 TOPAZ1 EXON Missense_R1271Q exm305340 3 44347833 [A/G] NM_001145030 TOPAZ1 EXON Missense_Q1352R exm305344 3 44364661 [T/A] NM_001145030 TOPAZ1 EXON Missense_M1517L exm305346 3 44369849 [A/G] NM_001145030 TOPAZ1 EXON Missense_I1595V exm305360 3 44402941 [T/C] NM_173826 TCAIM EXON Nonsense_Q84X exm305361 3 44402954 [A/T] NM_173826 TCAIM EXON Missense_Y88F exm2052109 3 44402966 [T/C] NM_173826 TCAIM EXON Missense_T92I exm305373 3 44434424 [A/G] NM_173826 TCAIM EXON Missense_R217H exm305381 3 44437984 [T/C] NM_173826 TCAIM EXON Missense_A263V exm305388 3 44442007 [A/G] NM_173826 TCAIM EXON Missense_Y349C exm305391 3 44442054 [T/C] NM_173826 TCAIM EXON Missense_R365C exm305401 3 44449071 [A/T] NM_173826 TCAIM EXON Missense_Y463F exm305402 3 44449144 [G/C] NM_173826 TCAIM EXON Missense_W487C exm305403 3 44449160 [A/G] NM_173826 TCAIM EXON Missense_E493K exm305413 3 44488293 [T/C] NM_181489 ZNF445 EXON Missense_E957G exm305417 3 44488438 [T/G] NM_181489 ZNF445 EXON Missense_H909N exm305418 3 44488439 [A/T] NM_181489 ZNF445 EXON Missense_R908S exm305419 3 44488446 [A/G] NM_181489 ZNF445 EXON Missense_I906T exm305424 3 44488656 [A/C] NM_181489 ZNF445 EXON Missense_G836V exm305438 3 44489059 [T/C] NM_181489 ZNF445 EXON Missense_I702V exm305442 3 44489137 [T/C] NM_181489 ZNF445 EXON Missense_A676T exm305444 3 44489153 [G/C] NM_181489 ZNF445 EXON Missense_Q670H exm2256035 3 44489264 [A/G] NM_181489 ZNF445 EXON Synonymous_T633T exm305448 3 44489419 [A/C] NM_181489 ZNF445 EXON Missense_S582A exm305457 3 44489700 [T/C] NM_181489 ZNF445 EXON Missense_S488N exm305460 3 44489755 [A/C] NM_181489 ZNF445 EXON Missense_S470A exm305461 3 44489782 [T/C] NM_181489 ZNF445 EXON Missense_V461M exm305462 3 44489880 [T/C] NM_181489 ZNF445 EXON Missense_Y428C exm305463 3 44489894 [A/C] NM_181489 ZNF445 EXON Missense_M423I exm2256036 3 44490011 [T/C] NM_181489 ZNF445 EXON Synonymous_T384T exm305468 3 44490049 [T/C] NM_181489 ZNF445 EXON Missense_R372G exm305493 3 44492449 [A/G] NM_181489 ZNF445 EXON Missense_P202S exm2052145 3 44492807 [A/G] NM_181489 ZNF445 EXON Synonymous_S199S exm305505 3 44496628 [T/A] NM_181489 ZNF445 EXON Missense_D138E exm305507 3 44496672 [T/C] NM_181489 ZNF445 EXON Missense_E124K exm305516 3 44496977 [T/C] NM_181489 ZNF445 EXON Missense_R22Q exm305533 3 44598609 [T/C] NM_025169,NM_018651 ZKSCAN7,ZKSCAN7 EXON Missense_R24C,Missense_R24C exm305543 3 44598757 [T/G] NM_025169,NM_018651 ZKSCAN7,ZKSCAN7 EXON Missense_S73I,Missense_S73I exm2239584 3 44598777 [T/C] NM_025169,NM_018651 ZKSCAN7,ZKSCAN7 EXON Missense_R80C,Missense_R80C exm305549 3 44606988 [A/C] NM_025169,NM_018651 ZKSCAN7,ZKSCAN7 EXON Missense_P145T,Missense_P145T exm305550 3 44607013 [T/C] NM_025169,NM_018651 ZKSCAN7,ZKSCAN7 EXON Missense_F153S,Missense_F153S exm305559 3 44609875 [T/C] NM_025169,NM_018651 ZKSCAN7,ZKSCAN7 EXON Missense_A254V,Missense_A254V exm2273911 3 44611558 [T/C] NM_025169,NM_018651 ZKSCAN7,ZKSCAN7 EXON Silent,Missense_F319S exm305572 3 44611677 [A/G] NM_025169,NM_018651 ZKSCAN7,ZKSCAN7 EXON Silent,Missense_E359K exm305578 3 44611759 [A/G] NM_025169,NM_018651 ZKSCAN7,ZKSCAN7 EXON Silent,Missense_D386G exm2052171 3 44611780 [A/G] NM_025169,NM_018651 ZKSCAN7,ZKSCAN7 EXON Silent,Missense_N393S exm305593 3 44612137 [A/G] NM_025169,NM_018651 ZKSCAN7,ZKSCAN7 EXON Silent,Missense_R512Q exm305619 3 44612684 [T/G] NM_025169,NM_018651 ZKSCAN7,ZKSCAN7 EXON Silent,Missense_N694K exm305628 3 44612839 [T/C] NM_025169,NM_018651 ZKSCAN7,ZKSCAN7 EXON Silent,Missense_S746F exm305643 3 44635894 [A/G] NM_173658 ZNF660 EXON Missense_R70Q exm305644 3 44635903 [T/C] NM_173658 ZNF660 EXON Missense_T73M exm305649 3 44635974 [T/C] NM_173658 ZNF660 EXON Missense_R97W exm305650 3 44635975 [A/G] NM_173658 ZNF660 EXON Missense_R97Q exm2239586 3 44636119 [A/G] NM_173658 ZNF660 EXON Missense_R145Q exm305663 3 44636157 [A/G] NM_173658 ZNF660 EXON Missense_G158R exm305671 3 44636284 [A/G] NM_173658 ZNF660 EXON Missense_G200D exm305684 3 44636646 [A/C] NM_173658 ZNF660 EXON Missense_Q321K exm2052196 3 44670831 [A/G] NM_006991,NM_001024855 ZNF197,ZNF197 EXON Missense_R62Q,Missense_R62Q exm305693 3 44670848 [T/C] NM_006991,NM_001024855 ZNF197,ZNF197 EXON Missense_R68C,Missense_R68C exm305703 3 44672596 [G/C] NM_006991,NM_001024855 ZNF197,ZNF197 EXON Missense_V145L,Missense_V145L exm305713 3 44683454 [G/C] NM_006991,NM_001024855 ZNF197,ZNF197 EXON Missense_D278H,Silent exm2052209 3 44683787 [T/C] NM_006991,NM_001024855 ZNF197,ZNF197 EXON Missense_R389W,Silent exm305731 3 44683875 [A/G] NM_006991,NM_001024855 ZNF197,ZNF197 EXON Missense_R418Q,Silent exm305734 3 44683896 [T/C] NM_006991,NM_001024855 ZNF197,ZNF197 EXON Missense_P425L,Silent exm305736 3 44683983 [T/A] NM_006991,NM_001024855 ZNF197,ZNF197 EXON Missense_Y454F,Silent exm305747 3 44684320 [A/C] NM_006991,NM_001024855 ZNF197,ZNF197 EXON Nonsense_Y566X,Silent exm305793 3 44685500 [T/G] NM_006991,NM_001024855 ZNF197,ZNF197 EXON Missense_C960G,Silent exm305808 3 44692692 [A/G] NM_003420 ZNF35 EXON Missense_V45I exm305809 3 44692719 [A/C] NM_003420 ZNF35 EXON Missense_T54P exm305814 3 44700270 [T/C] NM_003420 ZNF35 EXON Missense_S139P exm305819 3 44700420 [A/G] NM_003420 ZNF35 EXON Missense_K189E exm305820 3 44700433 [A/C] NM_003420 ZNF35 EXON Missense_N193T exm305823 3 44700567 [A/G] NM_003420 ZNF35 EXON Missense_V238I exm305860 3 44762392 [T/C] NM_033210,NM_001134440,NM_001134442,NM_001134441 ZNF502,ZNF502,ZNF502,ZNF502 EXON Missense_L28P,Missense_L28P,Missense_L28P,Missense_L28P exm2052248 3 44762403 [A/G] NM_033210,NM_001134440,NM_001134442,NM_001134441 ZNF502,ZNF502,ZNF502,ZNF502 EXON Missense_V32I,Missense_V32I,Missense_V32I,Missense_V32I exm305870 3 44762748 [A/G] NM_033210,NM_001134440,NM_001134442,NM_001134441 ZNF502,ZNF502,ZNF502,ZNF502 EXON Missense_T147A,Missense_T147A,Missense_T147A,Missense_T147A exm305871 3 44762770 [T/C] NM_033210,NM_001134440,NM_001134442,NM_001134441 ZNF502,ZNF502,ZNF502,ZNF502 EXON Missense_S154F,Missense_S154F,Missense_S154F,Missense_S154F exm305874 3 44762827 [T/A] NM_033210,NM_001134440,NM_001134442,NM_001134441 ZNF502,ZNF502,ZNF502,ZNF502 EXON Missense_H173L,Missense_H173L,Missense_H173L,Missense_H173L exm305876 3 44762830 [A/G] NM_033210,NM_001134440,NM_001134442,NM_001134441 ZNF502,ZNF502,ZNF502,ZNF502 EXON Missense_Q174R,Missense_Q174R,Missense_Q174R,Missense_Q174R exm305887 3 44763037 [A/C] NM_033210,NM_001134440,NM_001134442,NM_001134441 ZNF502,ZNF502,ZNF502,ZNF502 EXON Missense_E243A,Missense_E243A,Missense_E243A,Missense_E243A exm305895 3 44763118 [A/G] NM_033210,NM_001134440,NM_001134442,NM_001134441 ZNF502,ZNF502,ZNF502,ZNF502 EXON Missense_N270S,Missense_N270S,Missense_N270S,Missense_N270S exm305902 3 44763273 [A/C] NM_033210,NM_001134440,NM_001134442,NM_001134441 ZNF502,ZNF502,ZNF502,ZNF502 EXON Missense_P322T,Missense_P322T,Missense_P322T,Missense_P322T exm305915 3 44763766 [C/G] NM_033210,NM_001134440,NM_001134442,NM_001134441 ZNF502,ZNF502,ZNF502,ZNF502 EXON Missense_T486S,Missense_T486S,Missense_T486S,Missense_T486S exm305916 3 44763811 [A/G] NM_033210,NM_001134440,NM_001134442,NM_001134441 ZNF502,ZNF502,ZNF502,ZNF502 EXON Missense_R501H,Missense_R501H,Missense_R501H,Missense_R501H exm305918 3 44763822 [T/C] NM_033210,NM_001134440,NM_001134442,NM_001134441 ZNF502,ZNF502,ZNF502,ZNF502 EXON Missense_H505Y,Missense_H505Y,Missense_H505Y,Missense_H505Y exm305920 3 44763861 [T/C] NM_033210,NM_001134440,NM_001134442,NM_001134441 ZNF502,ZNF502,ZNF502,ZNF502 EXON Missense_P518S,Missense_P518S,Missense_P518S,Missense_P518S exm305927 3 44775959 [A/G] NM_145044,NM_001258280 ZNF501,ZNF501 EXON Missense_N16D,Missense_N16D exm305928 3 44775962 [A/G] NM_145044,NM_001258280 ZNF501,ZNF501 EXON Missense_M17V,Missense_M17V exm2052264 3 44776070 [A/G] NM_145044,NM_001258280 ZNF501,ZNF501 EXON Missense_S53G,Missense_S53G exm305945 3 44776337 [A/G] NM_145044,NM_001258280 ZNF501,ZNF501 EXON Missense_A142T,Missense_A142T exm305946 3 44776352 [A/G] NM_145044,NM_001258280 ZNF501,ZNF501 EXON Missense_I147V,Missense_I147V exm2052269 3 44776413 [A/G] NM_145044,NM_001258280 ZNF501,ZNF501 EXON Missense_C167Y,Missense_C167Y exm305961 3 44776726 [A/G] NM_145044,NM_001258280 ZNF501,ZNF501 EXON Synonymous_E271E,Synonymous_E271E exm2269443 3 44777796 [T/C] NM_145044,NM_001258280 ZNF501,ZNF501 EXON Silent,Silent exm305971 3 44794955 [T/C] NM_020696 KIAA1143 EXON Missense_S115G exm305977 3 44803004 [T/G] NM_020696 KIAA1143 EXON Missense_P31T exm305982 3 44803078 [T/C] NM_020696 KIAA1143 EXON Missense_Q6R exm306005 3 44816862 [A/G] NM_020242 KIF15 EXON Missense_R60Q exm306013 3 44826358 [T/C] NM_020242 KIF15 EXON Missense_F128S exm306028 3 44828026 [T/C] NM_020242 KIF15 EXON Missense_A200V exm306029 3 44828059 [T/C] NM_020242 KIF15 EXON Missense_A211V exm306030 3 44835707 [A/G] NM_020242 KIF15 Silent exm306038 3 44835838 [T/C] NM_020242 KIF15 EXON Missense_R257W exm306046 3 44841902 [A/G] NM_020242 KIF15 EXON Missense_T399A exm306048 3 44842943 [A/C] NM_020242 KIF15 EXON Missense_D408E exm306058 3 44843440 [A/G] NM_020242 KIF15 EXON Missense_N495D exm306059 3 44843459 [T/G] NM_020242 KIF15 EXON Missense_R501L exm306062 3 44844424 [C/G] NM_020242 KIF15 EXON Missense_T543S exm2052320 3 44846575 [A/G] NM_020242 KIF15 EXON Missense_E582K exm306071 3 44846644 [T/G] NM_020242 KIF15 EXON Missense_F605V exm306079 3 44852341 [A/G] NM_020242 KIF15 EXON Missense_I659V exm306080 3 44852353 [A/G] NM_020242 KIF15 EXON Missense_T663A exm2273912 3 44852434 [T/A] NM_020242 KIF15 EXON Missense_N690Y exm306084 3 44852497 [C/G] NM_020242 KIF15 EXON Missense_A711P exm2052326 3 44852530 [A/G] NM_020242 KIF15 EXON Missense_V722M exm306090 3 44854594 [A/G] NM_020242 KIF15 EXON Missense_T769A exm2256039 3 44854614 [T/G] NM_020242 KIF15 EXON Synonymous_L775L exm306099 3 44856496 [C/G] NM_020242 KIF15 EXON Missense_T826R exm306100 3 44856499 [A/G] NM_020242 KIF15 EXON Missense_N827S exm306101 3 44856506 [G/C] NM_020242 KIF15 EXON Missense_E829D exm306104 3 44856528 [A/G] NM_020242 KIF15 EXON Missense_E837K exm306110 3 44867592 [C/G] NM_020242 KIF15 EXON Missense_Q871E exm306111 3 44867598 [A/G] NM_020242 KIF15 EXON Missense_I873V exm306118 3 44868956 [T/C] NM_020242 KIF15 EXON Missense_I931T exm306119 3 44868976 [A/G] NM_020242 KIF15 EXON Missense_V938I exm306124 3 44869731 [A/G] NM_020242 KIF15 EXON Missense_E961G exm306127 3 44871505 [A/T] NM_020242 KIF15 EXON Missense_T996S exm306128 3 44871509 [T/C] NM_020242 KIF15 EXON Missense_S997L exm306135 3 44879770 [G/C] NM_020242 KIF15 EXON Missense_D1059H exm306137 3 44879843 [T/C] NM_020242 KIF15 EXON Missense_S1083L exm306138 3 44879846 [A/G] NM_020242 KIF15 EXON Missense_G1084E exm306139 3 44881887 [A/G] NM_020242 KIF15 EXON Missense_E1120G exm306141 3 44881897 [A/C] NM_020242 KIF15 EXON Missense_F1123L exm306144 3 44882586 [G/C] NM_020242 KIF15 EXON Missense_H1147Q exm306145 3 44884627 [A/G] NM_020242 KIF15 EXON Missense_R1199H exm306147 3 44884647 [A/C] NM_020242 KIF15 EXON Missense_L1206M exm306150 3 44884665 [A/G] NM_020242 KIF15 EXON Missense_I1212V exm2052354 3 44884687 [A/G] NM_020242 KIF15 EXON Missense_Q1219R exm306153 3 44889517 [A/C] NM_020242 KIF15 EXON Missense_Q1246K exm306155 3 44893288 [A/C] NM_020242 KIF15 EXON Missense_E1272D exm306157 3 44893346 [A/G] NM_020242 KIF15 EXON Missense_E1292K exm306184 3 44905748 [A/G] NM_144638 TMEM42 EXON Missense_M84I exm306186 3 44905770 [T/C] NM_144638 TMEM42 EXON Missense_L92F exm306188 3 44905782 [A/G] NM_144638 TMEM42 EXON Missense_M96V exm306190 3 44905834 [T/C] NM_144638 TMEM42 EXON Missense_S113L exm306193 3 44906575 [T/C] NM_144638 TMEM42 EXON Missense_L128S exm306206 3 44926861 [A/G] NM_003241 TGM4 EXON Missense_V22I exm306216 3 44926931 [A/G] NM_003241 TGM4 EXON Missense_R45Q exm306217 3 44926937 [T/G] NM_003241 TGM4 EXON Missense_V47G exm306218 3 44926943 [A/C] NM_003241 TGM4 EXON Missense_N49T exm306219 3 44929195 [A/G] NM_003241 TGM4 EXON Missense_I70V exm306225 3 44929287 [C/G] NM_003241 TGM4 EXON Missense_E100D exm306228 3 44932123 [A/G] NM_003241 TGM4 EXON Missense_N110S exm306240 3 44935105 [A/G] NM_003241 TGM4 EXON Missense_K156R exm2052382 3 44935152 [A/G] NM_003241 TGM4 EXON Missense_R172G exm306254 3 44938291 [A/G] NM_003241 TGM4 EXON Missense_R214G exm306259 3 44943057 [T/G] NM_003241 TGM4 EXON Missense_W233C exm306263 3 44943088 [T/C] NM_003241 TGM4 EXON Missense_Y244H exm306265 3 44943098 [T/C] NM_003241 TGM4 EXON Missense_T247I exm306266 3 44943104 [C/G] NM_003241 TGM4 EXON Missense_S249T exm306274 3 44943164 [A/G] NM_003241 TGM4 EXON Nonsense_W269X exm2239599 3 44943311 [T/C] NM_003241 TGM4 EXON Missense_R287C exm306281 3 44943350 [A/G] NM_003241 TGM4 EXON Missense_R300G exm306283 3 44943389 [A/G] NM_003241 TGM4 EXON Missense_E313K exm2052390 3 44943399 [A/C] NM_003241 TGM4 EXON Missense_T316N exm306284 3 44943401 [A/C] NM_003241 TGM4 EXON Missense_S317R exm306291 3 44945443 [A/C] NM_003241 TGM4 EXON Missense_Q347K exm306294 3 44945470 [T/C] NM_003241 TGM4 EXON Nonsense_R356X exm306298 3 44948479 [T/C] NM_003241 TGM4 EXON Missense_R372C exm306299 3 44948480 [A/G] NM_003241 TGM4 EXON Missense_R372H exm306300 3 44948491 [A/G] NM_003241 TGM4 EXON Missense_I376V exm306303 3 44948518 [A/G] NM_003241 TGM4 EXON Missense_V385I exm306308 3 44948590 [A/G] NM_003241 TGM4 EXON Missense_V409I exm306309 3 44948599 [A/G] NM_003241 TGM4 EXON Missense_M412V exm306313 3 44948656 [T/C] NM_003241 TGM4 EXON Missense_R431W exm306315 3 44948674 [C/G] NM_003241 TGM4 EXON Missense_E437Q exm306316 3 44951650 [T/C] NM_003241 TGM4 EXON Nonsense_R466X exm306351 3 44955078 [T/C] NM_003241 TGM4 EXON Missense_T639M exm306357 3 44955174 [T/C] NM_003241 TGM4 EXON Missense_V671A exm306380 3 44974404 [A/G] NM_001135179,NM_016598 ZDHHC3,ZDHHC3 EXON Silent,Missense_S230L exm2239602 3 44974429 [T/G] NM_001135179,NM_016598 ZDHHC3,ZDHHC3 EXON Silent,Missense_K222Q exm306383 3 44974433 [A/C] NM_001135179,NM_016598 ZDHHC3,ZDHHC3 EXON Silent,Missense_H220Q exm306384 3 44974434 [T/C] NM_001135179,NM_016598 ZDHHC3,ZDHHC3 EXON Silent,Missense_H220R exm306387 3 44974685 [T/C] NM_001135179,NM_016598 ZDHHC3,ZDHHC3 EXON Missense_I179V,Missense_I179V exm306396 3 45000709 [T/C] NM_001135179,NM_016598 ZDHHC3,ZDHHC3 EXON Missense_V74M,Missense_V74M exm306406 3 45017782 [A/G] NM_015004,NR_023353 EXOSC7,EXOSC7 EXON Missense_T5A,Silent exm306411 3 45030641 [T/C] NM_015004,NR_023353 EXOSC7,EXOSC7 EXON Missense_R23C,Silent exm306415 3 45030680 [A/G] NM_015004,NR_023353 EXOSC7,EXOSC7 EXON Missense_E36K,Silent exm306417 3 45030719 [A/G] NM_015004,NR_023353 EXOSC7,EXOSC7 EXON Missense_A49T,Silent exm306435 3 45046797 [A/G] NM_015004,NR_023353 EXOSC7,EXOSC7 EXON Missense_R169Q,Silent exm306450 3 45052775 [C/G] NM_015004,NR_023353 EXOSC7,EXOSC7 EXON Missense_V274L,Silent exm306465 3 45077123 [A/G] NM_003278 CLEC3B EXON Missense_G106S exm306483 3 45127353 [T/C] NM_022842 CDCP1 EXON Missense_R763Q exm306485 3 45127396 [T/C] NM_022842 CDCP1 EXON Missense_D749N exm306490 3 45127487 [A/C] NM_022842 CDCP1 EXON Missense_Q718H exm306493 3 45127515 [T/C] NM_022842 CDCP1 EXON Missense_D709G exm306499 3 45130613 [T/C] NM_022842 CDCP1 EXON Missense_A672T exm2256040 3 45130614 [A/G] NM_022842 CDCP1 EXON Synonymous_I671I exm306516 3 45132872 [T/C] NM_022842 CDCP1 EXON Missense_G596S exm306522 3 45134822 [T/C] NM_022842 CDCP1 EXON Missense_Q525R exm306538 3 45137000 [T/C] NM_022842 CDCP1 EXON Missense_R362Q exm306547 3 45152082 [T/C] NM_022842,NM_178181 CDCP1,CDCP1 EXON Missense_G303R,Missense_G303R exm306548 3 45152112 [T/C] NM_022842,NM_178181 CDCP1,CDCP1 EXON Missense_E293K,Missense_E293K exm306551 3 45152199 [T/C] NM_022842,NM_178181 CDCP1,CDCP1 EXON Missense_V264I,Missense_V264I exm2052498 3 45152208 [A/G] NM_022842,NM_178181 CDCP1,CDCP1 EXON Missense_R261W,Missense_R261W exm306566 3 45153626 [A/G] NM_022842,NM_178181 CDCP1,CDCP1 EXON Missense_H202Y,Missense_H202Y exm306572 3 45153758 [T/C] NM_022842,NM_178181 CDCP1,CDCP1 EXON Missense_G158R,Missense_G158R exm306574 3 45153770 [T/C] NM_022842,NM_178181 CDCP1,CDCP1 EXON Missense_S154G,Missense_S154G exm306588 3 45160038 [T/G] NM_022842,NM_178181 CDCP1,CDCP1 EXON Missense_A53E,Missense_A53E exm306590 3 45160066 [T/C] NM_022842,NM_178181 CDCP1,CDCP1 EXON Missense_I44V,Missense_I44V exm2261502 3 45276370 [T/C] exm2269444 3 45296740 [T/C] exm2273913 3 45436093 [A/G] NM_015340 LARS2 EXON Missense_E50K exm306640 3 45441840 [A/G] NM_015340 LARS2 EXON Missense_R113Q exm-rs854208 3 45452578 [A/G] NM_015340 LARS2 Silent exm306651 3 45500293 [A/G] NM_015340 LARS2 EXON Missense_E222G exm306661 3 45518073 [A/C] NM_015340 LARS2 EXON Missense_H324Q exm306669 3 45530243 [A/C] NM_015340,NR_048543 LARS2,LARS2-AS1 EXON Missense_A393D,Silent exm306685 3 45537795 [A/G] NM_015340,NR_048543 LARS2,LARS2-AS1 EXON Missense_D518N,Silent exm306687 3 45537808 [A/C] NM_015340,NR_048543 LARS2,LARS2-AS1 EXON Missense_T522N,Silent exm306697 3 45554679 [T/C] NM_015340 LARS2 EXON Missense_R605C exm306718 3 45559531 [T/G] NM_015340 LARS2 EXON Missense_K727N exm306719 3 45559553 [A/G] NM_015340 LARS2 EXON Missense_V735I exm306737 3 45583409 [T/G] NM_015340 LARS2 EXON Missense_E831D exm306746 3 45588912 [A/G] NM_015340 LARS2 EXON Missense_E868K exm306748 3 45588930 [A/G] NM_015340 LARS2 EXON Missense_E874K exm306757 3 45636460 [A/G] NM_014240 LIMD1 EXON Missense_R30Q exm306758 3 45636470 [C/G] NM_014240 LIMD1 EXON Missense_K33N exm2052562 3 45636505 [T/G] NM_014240 LIMD1 EXON Missense_R45L exm306772 3 45636696 [A/G] NM_014240 LIMD1 EXON Missense_A109T exm306775 3 45636805 [A/G] NM_014240 LIMD1 EXON Missense_S145N exm306782 3 45636879 [A/G] NM_014240 LIMD1 EXON Missense_D170N exm306785 3 45636961 [T/C] NM_014240 LIMD1 EXON Missense_S197F exm306790 3 45637104 [A/G] NM_014240 LIMD1 EXON Missense_G245S exm306794 3 45637134 [A/C] NM_014240 LIMD1 EXON Missense_S255R exm306798 3 45637230 [C/G] NM_014240 LIMD1 EXON Missense_V287L exm306810 3 45637398 [A/T] NM_014240 LIMD1 EXON Missense_S343T exm306813 3 45637434 [A/G] NM_014240 LIMD1 EXON Missense_A355T exm306821 3 45637650 [A/G] NM_014240 LIMD1 EXON Missense_V427I exm306826 3 45637755 [T/G] NM_014240 LIMD1 EXON Missense_A462S exm306828 3 45637765 [A/G] NM_014240 LIMD1 EXON Missense_K465R exm306856 3 45718433 [A/G] NM_014240 LIMD1 EXON Missense_N638S exm306888 3 45744976 [A/G] NM_014016 SACM1L EXON Missense_A27T exm2052601 3 45748283 [A/G] NM_014016 SACM1L EXON Missense_I73V exm306903 3 45751035 [A/C] NM_014016 SACM1L EXON Missense_N127H exm306939 3 45776753 [A/G] NM_014016 SACM1L EXON Missense_Q376R exm306941 3 45776782 [T/C] NM_014016 SACM1L EXON Nonsense_R386X exm306946 3 45779136 [A/T] NM_014016 SACM1L EXON Missense_Y434F exm306952 3 45780326 [T/G] NM_014016 SACM1L EXON Missense_H510Q exm306968 3 45800505 [A/G] NM_020208,NM_022405 SLC6A20,SLC6A20 EXON Missense_R582C,Missense_R545C exm306970 3 45800571 [T/C] NM_020208,NM_022405 SLC6A20,SLC6A20 EXON Missense_G560R,Missense_G523R exm306973 3 45800603 [T/C] NM_020208,NM_022405 SLC6A20,SLC6A20 EXON Missense_K549R,Missense_K512R exm306978 3 45801393 [T/C] NM_020208,NM_022405 SLC6A20,SLC6A20 EXON Missense_I529V,Missense_I492V exm306994 3 45804438 [A/G] NM_020208,NM_022405 SLC6A20,SLC6A20 EXON Missense_T477M,Missense_T440M exm306996 3 45804452 [G/C] NM_020208,NM_022405 SLC6A20,SLC6A20 EXON Missense_I472M,Missense_I435M exm307010 3 45807230 [T/C] NM_020208,NM_022405 SLC6A20,SLC6A20 EXON Missense_V368I,Missense_V331I exm307015 3 45811741 [A/G] NM_020208,NM_022405 SLC6A20,SLC6A20 EXON Missense_P353L,Missense_P316L exm307016 3 45811748 [T/G] NM_020208,NM_022405 SLC6A20,SLC6A20 EXON Missense_M351L,Missense_M314L exm307017 3 45811751 [T/C] NM_020208,NM_022405 SLC6A20,SLC6A20 EXON Missense_E350K,Missense_E313K exm307021 3 45812751 [T/C] NM_020208,NM_022405 SLC6A20,SLC6A20 EXON Missense_Y298C,Missense_Y261C exm307030 3 45812898 [A/G] NM_020208,NM_022405 SLC6A20,SLC6A20 EXON Missense_F249S,Missense_F212S exm2239615 3 45814071 [A/G] NM_020208,NM_022405 SLC6A20,SLC6A20 EXON Missense_L207F,Silent exm307040 3 45814094 [A/G] NM_020208,NM_022405 SLC6A20,SLC6A20 EXON Missense_T199M,Silent exm307043 3 45817275 [T/C] NM_020208,NM_022405 SLC6A20,SLC6A20 EXON Missense_R187H,Missense_R187H exm307051 3 45817414 [T/C] NM_020208,NM_022405 SLC6A20,SLC6A20 EXON Missense_K141E,Missense_K141E exm307054 3 45817437 [A/G] NM_020208,NM_022405 SLC6A20,SLC6A20 EXON Missense_T133M,Missense_T133M exm307058 3 45821536 [T/C] NM_020208,NM_022405 SLC6A20,SLC6A20 EXON Missense_A107T,Missense_A107T exm307060 3 45821545 [T/C] NM_020208,NM_022405 SLC6A20,SLC6A20 EXON Missense_V104I,Missense_V104I exm307065 3 45823588 [G/C] NM_020208,NM_022405 SLC6A20,SLC6A20 EXON Nonsense_Y83X,Nonsense_Y83X exm2273914 3 45823635 [A/G] NM_020208,NM_022405 SLC6A20,SLC6A20 EXON Missense_R68C,Missense_R68C exm307083 3 45837875 [A/G] NM_020208,NM_022405 SLC6A20,SLC6A20 EXON Nonsense_Q13X,Nonsense_Q13X exm307084 3 45837886 [C/G] NM_020208,NM_022405 SLC6A20,SLC6A20 EXON Missense_A9G,Missense_A9G exm307093 3 45869972 [T/C] NM_020347,NR_075080,NM_001276378,NM_001276379 LZTFL1,LZTFL1,LZTFL1,LZTFL1 EXON Missense_D246N,Silent,Missense_D229N,Missense_D242N exm2239617 3 45869984 [T/C] NM_020347,NR_075080,NM_001276378,NM_001276379 LZTFL1,LZTFL1,LZTFL1,LZTFL1 EXON Missense_T242A,Silent,Missense_T225A,Missense_T238A exm307095 3 45869987 [T/C] NM_020347,NR_075080,NM_001276378,NM_001276379 LZTFL1,LZTFL1,LZTFL1,LZTFL1 EXON Missense_A241T,Silent,Missense_A224T,Missense_A237T exm307096 3 45870023 [T/C] NM_020347,NR_075080,NM_001276378,NM_001276379 LZTFL1,LZTFL1,LZTFL1,LZTFL1 EXON Missense_K229E,Silent,Missense_K212E,Missense_K225E exm307098 3 45870062 [T/C] NM_020347,NR_075080,NM_001276378,NM_001276379 LZTFL1,LZTFL1,LZTFL1,LZTFL1 EXON Missense_A216T,Silent,Missense_A199T,Missense_A212T exm307103 3 45872578 [T/G] NM_020347,NR_075080,NM_001276378,NM_001276379 LZTFL1,LZTFL1,LZTFL1,LZTFL1 EXON Missense_T170N,Silent,Missense_T153N,Missense_T166N exm307106 3 45875738 [T/G] NM_020347,NR_075080,NM_001276378,NM_001276379 LZTFL1,LZTFL1,LZTFL1,LZTFL1 EXON Missense_N126H,Silent,Missense_N109H,Missense_N122H exm307109 3 45877082 [T/C] NM_020347,NR_075080,NM_001276378,NM_001276379 LZTFL1,LZTFL1,LZTFL1,LZTFL1 EXON Missense_R108Q,Silent,Missense_R91Q,Missense_R104Q exm307127 3 45942538 [A/C] NM_001276378,NM_001276379,NM_031200,NM_001256369,NM_006641 LZTFL1,LZTFL1,CCR9,CCR9,CCR9 EXON Silent,Silent,Missense_F86L,Missense_F74L,Missense_F74L exm2239619 3 45942551 [A/G] NM_001276378,NM_001276379,NM_031200,NM_001256369,NM_006641 LZTFL1,LZTFL1,CCR9,CCR9,CCR9 EXON Silent,Silent,Missense_A91T,Missense_A79T,Missense_A79T exm307128 3 45942554 [A/G] NM_001276378,NM_001276379,NM_031200,NM_001256369,NM_006641 LZTFL1,LZTFL1,CCR9,CCR9,CCR9 EXON Silent,Silent,Missense_I92V,Missense_I80V,Missense_I80V exm307129 3 45942584 [T/C] NM_001276378,NM_001276379,NM_031200,NM_001256369,NM_006641 LZTFL1,LZTFL1,CCR9,CCR9,CCR9 EXON Silent,Silent,Missense_P102S,Missense_P90S,Missense_P90S exm2239620 3 45942608 [A/G] NM_001276378,NM_001276379,NM_031200,NM_001256369,NM_006641 LZTFL1,LZTFL1,CCR9,CCR9,CCR9 EXON Silent,Silent,Missense_D110N,Missense_D98N,Missense_D98N exm307141 3 45942860 [A/G] NM_001276378,NM_001276379,NM_031200,NM_001256369,NM_006641 LZTFL1,LZTFL1,CCR9,CCR9,CCR9 EXON Silent,Silent,Missense_G194S,Missense_G182S,Missense_G182S exm307148 3 45942971 [A/G] NM_001276378,NM_001276379,NM_031200,NM_001256369,NM_006641 LZTFL1,LZTFL1,CCR9,CCR9,CCR9 EXON Silent,Silent,Missense_A231T,Missense_A219T,Missense_A219T exm307153 3 45943130 [A/G] NM_001276378,NM_001276379,NM_031200,NM_001256369,NM_006641 LZTFL1,LZTFL1,CCR9,CCR9,CCR9 EXON Silent,Silent,Missense_M284V,Missense_M272V,Missense_M272V exm307158 3 45943287 [A/G] NM_001276378,NM_001276379,NM_031200,NM_001256369,NM_006641 LZTFL1,LZTFL1,CCR9,CCR9,CCR9 EXON Silent,Silent,Missense_G336D,Missense_G324D,Missense_G324D exm2052694 3 45943318 [A/T] NM_001276378,NM_001276379,NM_031200,NM_001256369,NM_006641 LZTFL1,LZTFL1,CCR9,CCR9,CCR9 EXON Silent,Silent,Missense_F346L,Missense_F334L,Missense_F334L exm307167 3 45963300 [A/G] NM_024513 FYCO1 EXON Missense_T1465M exm307169 3 45965185 [T/C] NM_024513 FYCO1 EXON Missense_G1442S exm307170 3 45965188 [T/G] NM_024513 FYCO1 EXON Missense_P1441T exm307175 3 45965238 [T/C] NM_024513 FYCO1 EXON Missense_R1424Q exm307177 3 45965244 [A/G] NM_024513 FYCO1 EXON Missense_T1422M exm2052702 3 45972667 [T/C] NM_024513 FYCO1 EXON Missense_E1383K exm307188 3 45978012 [A/G] NM_024513 FYCO1 EXON Missense_T1323M exm307204 3 45988293 [A/G] NM_024513,NM_006564 FYCO1,CXCR6 EXON Silent,Missense_G107D exm307212 3 45988499 [A/G] NM_024513,NM_006564 FYCO1,CXCR6 EXON Silent,Missense_D176N exm2269445 3 45989044 [T/G] NM_024513,NM_006564 FYCO1,CXCR6 EXON Silent,Silent exm307244 3 45996877 [T/C] NM_024513 FYCO1 EXON Missense_T1270A exm307246 3 45999920 [C/G] NM_024513 FYCO1 EXON Missense_P1260R exm307258 3 46000931 [T/C] NM_024513 FYCO1 EXON Missense_D1181N exm307266 3 46003735 [T/C] NM_024513 FYCO1 EXON Missense_R1140Q exm307267 3 46003736 [A/G] NM_024513 FYCO1 EXON Missense_R1140W exm307270 3 46003762 [T/G] NM_024513 FYCO1 EXON Missense_N1131T exm307272 3 46003807 [T/C] NM_024513 FYCO1 EXON Missense_R1116H exm307273 3 46003831 [T/C] NM_024513 FYCO1 EXON Missense_K1108R exm307274 3 46003832 [T/C] NM_024513 FYCO1 EXON Missense_K1108E exm307277 3 46003868 [T/C] NM_024513 FYCO1 EXON Missense_E1096K exm307278 3 46005863 [T/G] NM_024513 FYCO1 EXON Missense_D1078E exm2052720 3 46005882 [A/G] NM_024513 FYCO1 EXON Missense_A1072V exm307279 3 46005885 [T/C] NM_024513 FYCO1 EXON Missense_Q1071R exm2052724 3 46006565 [T/C] NM_024513 FYCO1 EXON Missense_R1037Q exm307283 3 46006603 [G/C] NM_024513 FYCO1 EXON Missense_E1024D exm307285 3 46007802 [T/A] NM_024513 FYCO1 EXON Missense_S1008R exm307288 3 46007846 [T/C] NM_024513 FYCO1 EXON Missense_E994K exm307297 3 46007969 [A/C] NM_024513 FYCO1 EXON Missense_G953W exm307298 3 46007980 [T/C] NM_024513 FYCO1 EXON Missense_R949H exm307303 3 46008020 [T/C] NM_024513 FYCO1 EXON Missense_A936T exm307309 3 46008214 [T/C] NM_024513 FYCO1 EXON Missense_R871Q exm2052733 3 46008467 [A/G] NM_024513 FYCO1 EXON Missense_R787W exm307323 3 46008532 [T/C] NM_024513 FYCO1 EXON Missense_R765H exm307329 3 46008647 [T/G] NM_024513 FYCO1 EXON Missense_H727N exm307335 3 46008790 [A/G] NM_024513 FYCO1 EXON Missense_A679V exm307338 3 46008820 [T/C] NM_024513 FYCO1 EXON Missense_S669N exm307341 3 46008841 [A/G] NM_024513 FYCO1 EXON Missense_S662F exm307344 3 46008871 [T/C] NM_024513 FYCO1 EXON Missense_R652Q exm307353 3 46008941 [T/C] NM_024513 FYCO1 EXON Missense_V629I exm307355 3 46008983 [A/G] NM_024513 FYCO1 EXON Missense_R615W exm307363 3 46009157 [A/C] NM_024513 FYCO1 EXON Missense_A557S exm307365 3 46009169 [A/G] NM_024513 FYCO1 EXON Missense_L553F exm307366 3 46009205 [G/C] NM_024513 FYCO1 EXON Missense_Q541E exm307368 3 46009277 [A/T] NM_024513 FYCO1 EXON Missense_F517I exm307369 3 46009289 [A/G] NM_024513 FYCO1 EXON Missense_R513W exm2052745 3 46009324 [T/C] NM_024513 FYCO1 EXON Missense_K501R exm307371 3 46009352 [A/G] NM_024513 FYCO1 EXON Missense_R492W exm307372 3 46009387 [A/G] NM_024513 FYCO1 EXON Missense_T480M exm307374 3 46009403 [A/C] NM_024513 FYCO1 EXON Nonsense_E475X exm307376 3 46009466 [A/G] NM_024513 FYCO1 EXON Missense_P454S exm307377 3 46009487 [A/G] NM_024513 FYCO1 EXON Missense_R447C exm307379 3 46009501 [T/C] NM_024513 FYCO1 EXON Missense_R442Q exm307384 3 46009684 [A/G] NM_024513 FYCO1 EXON Missense_T381M exm307385 3 46009705 [A/G] NM_024513 FYCO1 EXON Missense_M374T exm307387 3 46009763 [A/G] NM_024513 FYCO1 EXON Missense_R355W exm307389 3 46009810 [T/C] NM_024513 FYCO1 EXON Missense_R339Q exm307394 3 46009864 [C/G] NM_024513 FYCO1 EXON Missense_G321A exm307398 3 46009957 [T/C] NM_024513 FYCO1 EXON Missense_R290H exm307401 3 46009981 [T/C] NM_024513 FYCO1 EXON Missense_R282H exm307404 3 46010073 [A/C] NM_024513 FYCO1 EXON Missense_E251D exm307405 3 46010077 [T/C] NM_024513 FYCO1 EXON Missense_R250Q exm307406 3 46010078 [A/G] NM_024513 FYCO1 EXON Missense_R250W exm307409 3 46010113 [T/G] NM_024513 FYCO1 EXON Missense_E238A exm307410 3 46010119 [T/C] NM_024513 FYCO1 EXON Missense_R236Q exm307414 3 46010179 [A/G] NM_024513 FYCO1 EXON Missense_S216F exm307416 3 46010194 [A/G] NM_024513 FYCO1 EXON Missense_T211I exm307426 3 46014667 [A/G] NM_024513 FYCO1 EXON Missense_V151A exm2052768 3 46062484 [T/G] NM_005283,NM_001024644 XCR1,XCR1 EXON Missense_P319H,Missense_P319H exm307455 3 46062676 [A/C] NM_005283,NM_001024644 XCR1,XCR1 EXON Missense_I255S,Missense_I255S exm307456 3 46062678 [A/C] NM_005283,NM_001024644 XCR1,XCR1 EXON Missense_Q254H,Missense_Q254H exm307459 3 46062776 [A/G] NM_005283,NM_001024644 XCR1,XCR1 EXON Missense_R222C,Missense_R222C exm307460 3 46062824 [A/C] NM_005283,NM_001024644 XCR1,XCR1 EXON Missense_V206L,Missense_V206L exm2052774 3 46063024 [T/C] NM_005283,NM_001024644 XCR1,XCR1 EXON Missense_R139H,Missense_R139H exm307482 3 46063343 [T/C] NM_005283,NM_001024644 XCR1,XCR1 EXON Missense_A33T,Missense_A33T exm2265583 3 46140002 [A/G] exm-rs13098911 3 46235201 [T/C] exm307491 3 46244849 [T/C] NM_001295 CCR1 EXON Missense_R319H exm307498 3 46244934 [A/G] NM_001295 CCR1 EXON Missense_Y291H exm307499 3 46244937 [T/C] NM_001295 CCR1 EXON Missense_A290T exm307505 3 46245329 [A/G] NM_001295 CCR1 EXON Missense_A159V exm2273915 3 46245548 [A/G] NM_001295 CCR1 EXON Missense_T86M exm307517 3 46245596 [T/C] NM_001295 CCR1 EXON Missense_S70N exm307518 3 46245613 [A/C] NM_001295 CCR1 EXON Missense_R64S exm307530 3 46306642 [A/G] NM_001837,NM_178328,NM_178329,NM_001164680 CCR3,CCR3,CCR3,CCR3 EXON Silent,Missense_R19K,Silent,Missense_R16K exm307534 3 46306707 [A/G] NM_001837,NM_178328,NM_178329,NM_001164680 CCR3,CCR3,CCR3,CCR3 EXON Missense_V20M,Missense_V41M,Missense_V20M,Missense_V38M exm307537 3 46306765 [T/C] NM_001837,NM_178328,NM_178329,NM_001164680 CCR3,CCR3,CCR3,CCR3 EXON Missense_P39L,Missense_P60L,Missense_P39L,Missense_P57L exm2052788 3 46306902 [A/G] NM_001837,NM_178328,NM_178329,NM_001164680 CCR3,CCR3,CCR3,CCR3 EXON Missense_V85I,Missense_V106I,Missense_V85I,Missense_V103I exm307549 3 46307000 [G/C] NM_001837,NM_178328,NM_178329,NM_001164680 CCR3,CCR3,CCR3,CCR3 EXON Missense_L117F,Missense_L138F,Missense_L117F,Missense_L135F exm307553 3 46307064 [A/G] NM_001837,NM_178328,NM_178329,NM_001164680 CCR3,CCR3,CCR3,CCR3 EXON Missense_V139M,Missense_V160M,Missense_V139M,Missense_V157M exm307554 3 46307089 [T/C] NM_001837,NM_178328,NM_178329,NM_001164680 CCR3,CCR3,CCR3,CCR3 EXON Missense_V147A,Missense_V168A,Missense_V147A,Missense_V165A exm307562 3 46307313 [A/G] NM_001837,NM_178328,NM_178329,NM_001164680 CCR3,CCR3,CCR3,CCR3 EXON Missense_I222V,Missense_I243V,Missense_I222V,Missense_I240V exm307566 3 46307365 [A/G] NM_001837,NM_178328,NM_178329,NM_001164680 CCR3,CCR3,CCR3,CCR3 EXON Missense_R239Q,Missense_R260Q,Missense_R239Q,Missense_R257Q exm307569 3 46307391 [T/G] NM_001837,NM_178328,NM_178329,NM_001164680 CCR3,CCR3,CCR3,CCR3 EXON Missense_F248V,Missense_F269V,Missense_F248V,Missense_F266V exm307571 3 46307473 [A/G] NM_001837,NM_178328,NM_178329,NM_001164680 CCR3,CCR3,CCR3,CCR3 EXON Missense_R275Q,Missense_R296Q,Missense_R275Q,Missense_R293Q exm307582 3 46307695 [T/C] NM_001837,NM_178328,NM_178329,NM_001164680 CCR3,CCR3,CCR3,CCR3 EXON Missense_P349L,Missense_P370L,Missense_P349L,Missense_P367L exm307583 3 46307701 [T/C] NM_001837,NM_178328,NM_178329,NM_001164680 CCR3,CCR3,CCR3,CCR3 EXON Missense_L351P,Missense_L372P,Missense_L351P,Missense_L369P exm-rs9990343 3 46339812 [A/G] exm-rs6441961 3 46352384 [T/C] exm307595 3 46399158 [T/C] NM_001123396,NM_001123041 CCR2,CCR2 EXON Missense_P47L,Missense_P47L exm307598 3 46399208 [A/G] NM_001123396,NM_001123041 CCR2,CCR2 EXON Missense_V64I,Missense_V64I exm307612 3 46399633 [A/G] NM_001123396,NM_001123041 CCR2,CCR2 EXON Missense_M205I,Missense_M205I exm307616 3 46399764 [A/T] NM_001123396,NM_001123041 CCR2,CCR2 EXON Missense_M249K,Missense_M249K exm307629 3 46401174 [A/T] NM_001123041 CCR2 EXON Missense_F316L exm307634 3 46401290 [A/G] NM_001123041 CCR2 EXON Missense_G355E exm307642 3 46414529 [A/G] NM_000579,NM_001100168 CCR5,CCR5 EXON Missense_V46M,Missense_V46M exm307643 3 46414557 [T/A] NM_000579,NM_001100168 CCR5,CCR5 EXON Missense_L55Q,Missense_L55Q exm307645 3 46414573 [T/G] NM_000579,NM_001100168 CCR5,CCR5 EXON Missense_R60S,Missense_R60S exm307650 3 46414611 [T/C] NM_000579,NM_001100168 CCR5,CCR5 EXON Missense_A73V,Missense_A73V exm307654 3 46414696 [T/A] NM_000579,NM_001100168 CCR5,CCR5 EXON Nonsense_C101X,Nonsense_C101X exm2239633 3 46414709 [A/G] NM_000579,NM_001100168 CCR5,CCR5 EXON Missense_G106R,Missense_G106R exm307656 3 46414712 [T/C] NM_000579,NM_001100168 CCR5,CCR5 EXON Missense_L107F,Missense_L107F exm307659 3 46414755 [T/G] NM_000579,NM_001100168 CCR5,CCR5 EXON Missense_L121R,Missense_L121R exm307661 3 46414766 [A/G] NM_000579,NM_001100168 CCR5,CCR5 EXON Missense_D125N,Missense_D125N exm307663 3 46414784 [T/G] NM_000579,NM_001100168 CCR5,CCR5 EXON Missense_V131F,Missense_V131F exm307669 3 46414947 [T/G] NM_000579,NM_001100168 CCR5,CCR5 EXON Missense_S185I,Missense_S185I exm307670 3 46414949 [A/C] NM_000579,NM_001100168 CCR5,CCR5 EXON Missense_Q186K,Missense_Q186K exm2263446 3 46414968 [T/A] NM_000579,NM_001100168 CCR5,CCR5 EXON Missense_N192I,Missense_N192I exm307681 3 46414975 [T/G] NM_000579,NM_001100168 CCR5,CCR5 EXON Missense_Q194H,Missense_Q194H exm307688 3 46415061 [A/G] NM_000579,NM_001100168 CCR5,CCR5 EXON Missense_R223Q,Missense_R223Q exm307689 3 46415066 [T/C] NM_000579,NM_001100168 CCR5,CCR5 EXON Nonsense_R225X,Nonsense_R225X exm307699 3 46415255 [A/G] NM_000579,NM_001100168 CCR5,CCR5 EXON Missense_T288A,Missense_T288A exm2263448 3 46415397 [T/C] NM_000579,NM_001100168 CCR5,CCR5 EXON Missense_A335V,Missense_A335V exm307705 3 46415409 [A/T] NM_000579,NM_001100168 CCR5,CCR5 EXON Missense_Y339F,Missense_Y339F exm-rs6441975 3 46428190 [A/C] exm307706 3 46449164 [A/G] NM_003965,NM_001130910 CCRL2,CCRL2 EXON Silent,Missense_M1I exm307708 3 46449175 [A/G] NM_003965,NM_001130910 CCRL2,CCRL2 EXON Silent,Missense_R5H exm307714 3 46449637 [A/G] NM_003965,NM_001130910 CCRL2,CCRL2 EXON Missense_D23N,Missense_D35N exm307717 3 46449668 [C/G] NM_003965,NM_001130910 CCRL2,CCRL2 EXON Missense_A33G,Missense_A45G exm307722 3 46449751 [T/C] NM_003965,NM_001130910 CCRL2,CCRL2 EXON Missense_L61F,Missense_L73F exm307727 3 46449863 [A/G] NM_003965,NM_001130910 CCRL2,CCRL2 EXON Missense_G98E,Missense_G110E exm307729 3 46449890 [T/C] NM_003965,NM_001130910 CCRL2,CCRL2 EXON Missense_I107T,Missense_I119T exm307738 3 46450070 [A/T] NM_003965,NM_001130910 CCRL2,CCRL2 EXON Missense_F167Y,Missense_F179Y exm307739 3 46450072 [A/G] NM_003965,NM_001130910 CCRL2,CCRL2 EXON Missense_V168M,Missense_V180M exm307740 3 46450165 [T/C] NM_003965,NM_001130910 CCRL2,CCRL2 EXON Missense_F199L,Missense_F211L exm307742 3 46450190 [T/C] NM_003965,NM_001130910 CCRL2,CCRL2 EXON Missense_S207L,Missense_S219L exm307746 3 46450297 [A/G] NM_003965,NM_001130910 CCRL2,CCRL2 EXON Missense_I243V,Missense_I255V exm2052830 3 46450429 [A/C] NM_003965,NM_001130910 CCRL2,CCRL2 EXON Missense_L287I,Missense_L299I exm307751 3 46450472 [T/C] NM_003965,NM_001130910 CCRL2,CCRL2 EXON Missense_A301V,Missense_A313V exm307754 3 46450586 [A/G] NM_003965,NM_001130910 CCRL2,CCRL2 EXON Missense_D339G,Missense_D351G exm307756 3 46450604 [A/C] NM_003965,NM_001130910 CCRL2,CCRL2 EXON Missense_X345S,Missense_X357S exm-rs1015164 3 46451680 [A/G] exm307761 3 46479431 [A/G] NM_002343,NM_001199149 LTF,LTF EXON Missense_P700S,Missense_P656S exm307763 3 46479499 [A/G] NM_002343,NM_001199149 LTF,LTF EXON Missense_T677I,Missense_T633I exm307768 3 46479589 [A/G] NM_002343,NM_001199149 LTF,LTF EXON Missense_P647L,Missense_P603L exm307772 3 46480815 [T/C] NM_002343,NM_001199149 LTF,LTF EXON Missense_R627H,Missense_R583H exm307777 3 46480854 [A/G] NM_002343,NM_001199149 LTF,LTF EXON Missense_P614L,Missense_P570L exm307783 3 46480958 [G/C] NM_002343,NM_001199149 LTF,LTF EXON Missense_E579D,Missense_E535D exm2052842 3 46484951 [T/C] NM_002343,NM_001199149 LTF,LTF EXON Missense_G546S,Missense_G502S exm307794 3 46484978 [T/C] NM_002343,NM_001199149 LTF,LTF EXON Missense_V537M,Missense_V493M exm307799 3 46485035 [A/G] NM_002343,NM_001199149 LTF,LTF EXON Missense_P518S,Missense_P474S exm307802 3 46486841 [A/C] NM_002343,NM_001199149 LTF,LTF EXON Missense_V482L,Missense_V438L exm307810 3 46487937 [T/C] NM_002343,NM_001199149 LTF,LTF EXON Missense_V451M,Missense_V407M exm307811 3 46487942 [T/C] NM_002343,NM_001199149 LTF,LTF EXON Missense_R449K,Missense_R405K exm2052854 3 46490388 [A/G] NM_002343,NM_001199149 LTF,LTF EXON Missense_A393V,Missense_A349V exm307833 3 46490487 [T/C] NM_002343,NM_001199149 LTF,LTF EXON Missense_R360Q,Missense_R316Q exm307836 3 46490497 [A/C] NM_002343,NM_001199149 LTF,LTF EXON Missense_V357L,Missense_V313L exm307842 3 46491431 [A/T] NM_002343,NM_001199149 LTF,LTF EXON Missense_I324F,Missense_I280F exm307845 3 46491985 [T/C] NM_002343,NM_001199149 LTF,LTF EXON Synonymous_Q294Q,Synonymous_Q250Q exm307846 3 46491995 [T/C] NM_002343,NM_001199149 LTF,LTF EXON Missense_R291H,Missense_R247H exm307849 3 46492103 [T/C] NM_002343,NM_001199149 LTF,LTF EXON Missense_R255Q,Missense_R211Q exm2052865 3 46492149 [T/C] NM_002343,NM_001199149 LTF,LTF EXON Missense_E240K,Missense_E196K exm307854 3 46492162 [A/C] NM_002343,NM_001199149 LTF,LTF EXON Missense_E235D,Missense_E191D exm307868 3 46496854 [A/G] NM_002343,NM_001199149 LTF,LTF EXON Missense_A193V,Missense_A149V exm307874 3 46497312 [A/G] NM_002343,NM_001199149 LTF,LTF EXON Missense_T158M,Missense_T114M exm307875 3 46497330 [T/C] NM_002343,NM_001199149 LTF,LTF EXON Missense_R152H,Missense_R108H exm307879 3 46497342 [A/G] NM_002343,NM_001199149 LTF,LTF EXON Missense_I148T,Missense_I104T exm307902 3 46501168 [T/A] NM_002343,NM_001199149 LTF,LTF EXON Missense_I62N,Missense_I18N exm307906 3 46501213 [T/C] NM_002343,NM_001199149 LTF,LTF EXON Missense_K47R,Missense_K3R exm307907 3 46501253 [T/C] NM_002343,NM_001199149 LTF,LTF EXON Missense_E34K,Silent exm307909 3 46501268 [T/C] NM_002343,NM_001199149 LTF,LTF EXON Missense_A29T,Silent exm307916 3 46501308 [T/C] NM_002343,NM_001199149 LTF,LTF EXON Synonymous_G15G,Silent exm307935 3 46542052 [A/G] NM_031440 RTP3 EXON Missense_R121Q exm307941 3 46542222 [A/G] NM_031440 RTP3 EXON Missense_R178G exm307958 3 46563069 [A/G] NM_024512 LRRC2 EXON Missense_R337C exm307959 3 46563074 [A/C] NM_024512 LRRC2 EXON Missense_R335L exm307961 3 46563125 [A/G] NM_024512 LRRC2 EXON Missense_P318L exm2269446 3 46569721 [T/G] NM_024512 LRRC2 Silent exm307982 3 46574357 [T/G] NM_024512 LRRC2 EXON Missense_Y178S exm307987 3 46580591 [T/G] NM_024512 LRRC2 EXON Missense_A145E exm307991 3 46586534 [A/G] NM_024512 LRRC2 Silent exm2239637 3 46586537 [A/G] NM_024512 LRRC2 EXON Missense_T111M exm307993 3 46586622 [T/C] NM_024512 LRRC2 EXON Missense_T83A exm307996 3 46586682 [A/G] NM_024512 LRRC2 EXON Missense_Y63H exm307997 3 46586685 [T/C] NM_024512 LRRC2 EXON Missense_V62I exm308004 3 46592987 [A/G] NM_024512 LRRC2 EXON Missense_V32A exm308007 3 46593054 [T/G] NM_024512 LRRC2 EXON Missense_I10L exm308009 3 46593062 [A/G] NM_024512 LRRC2 EXON Missense_V7A exm308010 3 46593068 [A/G] NM_024512 LRRC2 EXON Missense_V5A exm308016 3 46620614 [T/C] NM_001174136,NM_003212 TDGF1,TDGF1 EXON Missense_V6A,Missense_V22A exm308044 3 46621330 [G/C] NM_001174136,NM_003212 TDGF1,TDGF1 EXON Missense_D93H,Missense_D109H exm308046 3 46621344 [A/G] NM_001174136,NM_003212 TDGF1,TDGF1 Silent,Silent exm308051 3 46621476 [T/C] NM_001174136,NM_003212 TDGF1,TDGF1 EXON Missense_P109L,Missense_P125L exm308059 3 46622648 [A/G] NM_001174136,NM_003212 TDGF1,TDGF1 EXON Missense_V143M,Missense_V159M exm2239640 3 46654182 [T/G] NM_001195442 LOC100132146 EXON Missense_L9F exm308068 3 46658712 [T/C] NM_001195442 LOC100132146 EXON Missense_R25W exm308070 3 46658737 [A/G] NM_001195442 LOC100132146 EXON Missense_H33R exm308071 3 46658775 [T/C] NM_001195442 LOC100132146 EXON Nonsense_R46X exm308072 3 46658790 [T/C] NM_001195442 LOC100132146 EXON Missense_R51C exm308111 3 46712490 [A/G] NM_182775,NR_033815,NM_001190707,NM_147129 ALS2CL,ALS2CL,ALS2CL,ALS2CL EXON Missense_S296F,Silent,Missense_S949F,Missense_S949F exm308115 3 46712514 [T/C] NM_182775,NR_033815,NM_001190707,NM_147129 ALS2CL,ALS2CL,ALS2CL,ALS2CL EXON Missense_H288R,Silent,Missense_H941R,Missense_H941R exm308116 3 46712548 [A/G] NM_182775,NR_033815,NM_001190707,NM_147129 ALS2CL,ALS2CL,ALS2CL,ALS2CL EXON Missense_Y277H,Silent,Missense_Y930H,Missense_Y930H exm2273916 3 46713039 [T/C] NM_182775,NR_033815,NM_001190707,NM_147129 ALS2CL,ALS2CL,ALS2CL,ALS2CL EXON Missense_R254H,Silent,Missense_R907H,Missense_R907H exm2273917 3 46713040 [A/G] NM_182775,NR_033815,NM_001190707,NM_147129 ALS2CL,ALS2CL,ALS2CL,ALS2CL EXON Missense_R254C,Silent,Missense_R907C,Missense_R907C exm308128 3 46713383 [A/G] NM_182775,NR_033815,NM_001190707,NM_147129 ALS2CL,ALS2CL,ALS2CL,ALS2CL EXON Missense_S239L,Silent,Missense_S892L,Missense_S892L exm308160 3 46717165 [T/C] NM_182775,NR_033815,NM_001190707,NM_147129 ALS2CL,ALS2CL,ALS2CL,ALS2CL EXON Missense_R80Q,Silent,Missense_R733Q,Missense_R733Q exm308161 3 46717175 [T/C] NM_182775,NR_033815,NM_001190707,NM_147129 ALS2CL,ALS2CL,ALS2CL,ALS2CL EXON Missense_G77S,Silent,Missense_G730S,Missense_G730S exm308166 3 46717820 [T/C] NM_182775,NR_033815,NM_001190707,NM_147129 ALS2CL,ALS2CL,ALS2CL,ALS2CL EXON Missense_A48T,Silent,Missense_A701T,Missense_A701T exm308187 3 46718370 [A/G] NM_182775,NR_033815,NM_001190707,NM_147129 ALS2CL,ALS2CL,ALS2CL,ALS2CL EXON Silent,Silent,Missense_R634C,Missense_R634C exm308189 3 46718394 [T/C] NM_182775,NR_033815,NM_001190707,NM_147129 ALS2CL,ALS2CL,ALS2CL,ALS2CL EXON Silent,Silent,Missense_D626N,Missense_D626N exm308192 3 46718451 [A/G] NM_182775,NR_033815,NM_001190707,NM_147129 ALS2CL,ALS2CL,ALS2CL,ALS2CL EXON Silent,Silent,Missense_R607W,Missense_R607W exm308203 3 46719860 [T/C] NR_033815,NM_001190707,NM_147129 ALS2CL,ALS2CL,ALS2CL EXON Silent,Missense_N549S,Missense_N549S exm2052977 3 46720718 [A/G] NR_033815,NM_001190707,NM_147129 ALS2CL,ALS2CL,ALS2CL EXON Silent,Synonymous_D536D,Synonymous_D536D exm308210 3 46720773 [A/G] NR_033815,NM_001190707,NM_147129 ALS2CL,ALS2CL,ALS2CL EXON Silent,Missense_P518L,Missense_P518L exm308214 3 46721988 [T/C] NR_033815,NM_001190707,NM_147129 ALS2CL,ALS2CL,ALS2CL EXON Silent,Missense_G494S,Missense_G494S exm308217 3 46722023 [T/C] NR_033815,NM_001190707,NM_147129 ALS2CL,ALS2CL,ALS2CL EXON Silent,Missense_R482H,Missense_R482H exm308234 3 46723537 [A/C] NR_033815,NM_001190707,NM_147129 ALS2CL,ALS2CL,ALS2CL EXON Silent,Missense_C386F,Missense_C386F exm2052990 3 46724654 [T/C] NR_033815,NM_001190707,NM_147129 ALS2CL,ALS2CL,ALS2CL EXON Silent,Missense_E359K,Missense_E359K exm308250 3 46724714 [T/C] NR_033815,NM_001190707,NM_147129 ALS2CL,ALS2CL,ALS2CL EXON Silent,Missense_D339N,Missense_D339N exm308255 3 46725291 [A/G] NR_033815,NM_001190707,NM_147129 ALS2CL,ALS2CL,ALS2CL EXON Silent,Missense_A298V,Missense_A298V exm2052998 3 46725313 [A/C] NR_033815,NM_001190707,NM_147129 ALS2CL,ALS2CL,ALS2CL EXON Silent,Nonsense_E291X,Nonsense_E291X exm308273 3 46727842 [G/C] NR_033815,NM_001190707,NM_147129 ALS2CL,ALS2CL,ALS2CL EXON Silent,Missense_V208L,Missense_V208L exm308276 3 46727920 [T/C] NR_033815,NM_001190707,NM_147129 ALS2CL,ALS2CL,ALS2CL EXON Silent,Missense_T182A,Missense_T182A exm308278 3 46728480 [A/G] NR_033815,NM_001190707,NM_147129 ALS2CL,ALS2CL,ALS2CL EXON Silent,Missense_I176T,Missense_I176T exm308283 3 46728543 [T/G] NR_033815,NM_001190707,NM_147129 ALS2CL,ALS2CL,ALS2CL EXON Silent,Missense_H155P,Missense_H155P exm308288 3 46728619 [A/G] NR_033815,NM_001190707,NM_147129 ALS2CL,ALS2CL,ALS2CL EXON Silent,Missense_R130W,Missense_R130W exm308292 3 46729609 [T/C] NR_033815,NM_001190707,NM_147129 ALS2CL,ALS2CL,ALS2CL EXON Silent,Missense_R94H,Missense_R94H exm308295 3 46729649 [T/C] NR_033815,NM_001190707,NM_147129 ALS2CL,ALS2CL,ALS2CL EXON Silent,Missense_T81A,Missense_T81A exm308296 3 46729663 [T/C] NR_033815,NM_001190707,NM_147129 ALS2CL,ALS2CL,ALS2CL EXON Silent,Missense_R76H,Missense_R76H exm308300 3 46729697 [A/C] NR_033815,NM_001190707,NM_147129 ALS2CL,ALS2CL,ALS2CL EXON Silent,Nonsense_E65X,Nonsense_E65X exm308303 3 46729757 [C/G] NR_033815,NM_001190707,NM_147129 ALS2CL,ALS2CL,ALS2CL EXON Silent,Missense_E45Q,Missense_E45Q exm308307 3 46730845 [T/C] NR_033815,NM_001190707,NM_147129 ALS2CL,ALS2CL,ALS2CL EXON Silent,Missense_Q29R,Missense_Q29R exm308311 3 46730893 [T/C] NR_033815,NM_001190707,NM_147129 ALS2CL,ALS2CL,ALS2CL EXON Silent,Missense_E13G,Missense_E13G exm308327 3 46747377 [T/C] NM_147196 TMIE EXON Missense_S64L exm308329 3 46747392 [T/C] NM_147196 TMIE EXON Missense_S69F exm308372 3 46754470 [T/G] NM_013270 PRSS50 EXON Missense_T281N exm308375 3 46754539 [T/C] NM_013270 PRSS50 EXON Missense_R258Q exm308379 3 46755747 [A/G] NM_013270 PRSS50 EXON Missense_R239C exm308380 3 46755773 [A/G] NM_013270 PRSS50 EXON Missense_T230M exm308388 3 46755875 [T/C] NM_013270 PRSS50 EXON Missense_R196Q exm308389 3 46755885 [A/G] NM_013270 PRSS50 EXON Missense_R193W exm308392 3 46755930 [T/C] NM_013270 PRSS50 EXON Missense_A178T exm308394 3 46755938 [A/G] NM_013270 PRSS50 EXON Missense_T175M exm308397 3 46755975 [A/G] NM_013270 PRSS50 EXON Missense_S163P exm308406 3 46758942 [T/C] NM_013270 PRSS50 EXON Missense_V98I exm308409 3 46759010 [T/G] NM_013270 PRSS50 EXON Missense_Q75P exm308425 3 46783849 [T/C] NM_199183 PRSS45 EXON Missense_M226I exm308427 3 46783919 [T/C] NM_199183 PRSS45 EXON Missense_N203S exm308431 3 46783959 [T/C] NM_199183 PRSS45 EXON Missense_I190V exm308433 3 46783983 [C/G] NM_199183 PRSS45 EXON Missense_Q182E exm308437 3 46784048 [A/C] NM_199183 PRSS45 EXON Missense_C160F exm308440 3 46784467 [A/G] NM_199183 PRSS45 EXON Missense_P130L exm308444 3 46784548 [T/G] NM_199183 PRSS45 EXON Missense_T103N exm308450 3 46785517 [T/C] NM_199183 PRSS45 EXON Missense_R76Q exm308451 3 46785518 [A/G] NM_199183 PRSS45 EXON Missense_R76W exm308452 3 46785536 [A/G] NM_199183 PRSS45 EXON Missense_H70Y exm308453 3 46785547 [T/G] NM_199183 PRSS45 EXON Missense_D66A exm308454 3 46785582 [T/C] NM_199183 PRSS45 EXON Missense_M54I exm308458 3 46786162 [T/C] NM_199183 PRSS45 EXON Nonsense_W28X exm308462 3 46871917 [A/C] NM_182702 PRSS42 EXON Missense_W287G exm308466 3 46873490 [T/C] NM_182702 PRSS42 EXON Missense_D223G exm308497 3 46899901 [T/C] NM_000258 MYL3 EXON Missense_D178N exm2261505 3 46902129 [T/G] NM_000258 MYL3 Silent exm308529 3 46935398 [T/G] NM_000316,NM_001184744 PTH1R,PTH1R EXON Missense_V26G,Missense_V26G exm308530 3 46935449 [A/G] NM_000316,NM_001184744 PTH1R,PTH1R EXON Missense_R43H,Missense_R43H exm308539 3 46937272 [C/G] NM_000316,NM_001184744 PTH1R,PTH1R EXON Missense_G76R,Missense_G76R exm308544 3 46937345 [A/G] NM_000316,NM_001184744 PTH1R,PTH1R EXON Missense_G100D,Missense_G100D exm308554 3 46939587 [T/C] NM_000316,NM_001184744 PTH1R,PTH1R EXON Missense_R150C,Missense_R150C exm308555 3 46939588 [A/G] NM_000316,NM_001184744 PTH1R,PTH1R EXON Missense_R150H,Missense_R150H exm308619 3 46945000 [A/G] NM_000316,NM_001184744 PTH1R,PTH1R EXON Missense_E546K,Missense_E546K exm308634 3 46963755 [T/C] NM_144716 CCDC12 EXON Missense_R143Q exm308647 3 46965111 [T/C] NM_144716 CCDC12 EXON Missense_V111I exm308648 3 46965126 [T/C] NM_144716 CCDC12 EXON Missense_A106T exm308665 3 46982503 [T/C] NM_144716 CCDC12 EXON Missense_E63G exm308666 3 46982510 [T/C] NM_144716 CCDC12 EXON Missense_E61K exm308669 3 47018127 [T/C] NM_144716 CCDC12 EXON Synonymous_K45K exm308705 3 47030865 [A/G] NM_015175 NBEAL2 EXON Missense_R156H exm308710 3 47032777 [A/G] NM_015175 NBEAL2 EXON Missense_V209I exm308720 3 47033113 [A/C] NM_015175 NBEAL2 EXON Missense_D287A exm308721 3 47033125 [A/G] NM_015175 NBEAL2 EXON Missense_G291D exm308739 3 47036565 [A/G] NM_015175 NBEAL2 EXON Missense_R447H exm308740 3 47036568 [A/G] NM_015175 NBEAL2 EXON Missense_N448S exm308750 3 47036756 [G/C] NM_015175 NBEAL2 EXON Missense_R511G exm308752 3 47036825 [T/C] NM_015175 NBEAL2 EXON Missense_R534C exm308754 3 47036843 [T/C] NM_015175 NBEAL2 EXON Missense_R540W exm308756 3 47036859 [T/C] NM_015175 NBEAL2 EXON Missense_S545L exm308759 3 47036892 [A/G] NM_015175 NBEAL2 EXON Missense_R556Q exm308778 3 47037253 [A/G] NM_015175 NBEAL2 EXON Missense_G650R exm308783 3 47037437 [A/G] NM_015175 NBEAL2 EXON Missense_V683I exm308784 3 47037452 [T/C] NM_015175 NBEAL2 EXON Missense_R688C exm308790 3 47037965 [A/G] NM_015175 NBEAL2 EXON Missense_A786T exm308791 3 47037984 [A/G] NM_015175 NBEAL2 EXON Missense_R792Q exm308802 3 47038764 [A/G] NM_015175 NBEAL2 EXON Missense_V889I exm308803 3 47038801 [A/G] NM_015175 NBEAL2 EXON Missense_R901Q exm308804 3 47038837 [T/C] NM_015175 NBEAL2 EXON Missense_P913L exm308806 3 47038915 [A/G] NM_015175 NBEAL2 EXON Missense_K939R exm308821 3 47039710 [T/C] NM_015175 NBEAL2 EXON Missense_R1038C exm308832 3 47040323 [T/C] NM_015175 NBEAL2 EXON Missense_T1113M exm2053207 3 47040466 [A/C] NM_015175 NBEAL2 EXON Missense_D1134E exm308839 3 47040566 [T/C] NM_015175 NBEAL2 EXON Missense_R1168W exm308842 3 47040838 [A/C] NM_015175 NBEAL2 EXON Missense_P1193T exm308852 3 47041428 [A/G] NM_015175 NBEAL2 EXON Missense_R1280Q exm308859 3 47041650 [T/C] NM_015175 NBEAL2 EXON Missense_T1354M exm308860 3 47041706 [C/G] NM_015175 NBEAL2 EXON Missense_G1373R exm2053218 3 47041800 [A/G] NM_015175 NBEAL2 EXON Missense_R1404H exm308885 3 47043188 [A/G] NM_015175 NBEAL2 EXON Missense_G1552S exm2053226 3 47043255 [A/G] NM_015175 NBEAL2 EXON Missense_R1574H exm308894 3 47043467 [A/C] NM_015175 NBEAL2 EXON Missense_R1614S exm308901 3 47043648 [A/G] NM_015175 NBEAL2 EXON Missense_R1674H exm308918 3 47044168 [T/C] NM_015175 NBEAL2 EXON Missense_R1779C exm308930 3 47044679 [T/C] NM_015175 NBEAL2 EXON Missense_T1867I exm308953 3 47045665 [A/G] NM_015175 NBEAL2 EXON Missense_D1994N exm308954 3 47045708 [T/C] NM_015175 NBEAL2 EXON Missense_T2008M exm308960 3 47045846 [T/C] NM_015175 NBEAL2 EXON Missense_S2054F exm308962 3 47045998 [A/G] NM_015175 NBEAL2 EXON Missense_R2071H exm308969 3 47046519 [A/G] NM_015175 NBEAL2 EXON Missense_V2118I exm308982 3 47047109 [A/G] NM_015175 NBEAL2 EXON Missense_G2231S exm308987 3 47047500 [A/G] NM_015175 NBEAL2 EXON Missense_R2289Q exm308989 3 47047514 [A/G] NM_015175 NBEAL2 EXON Missense_E2294K exm309003 3 47047916 [A/G] NM_015175 NBEAL2 EXON Missense_E2371K exm309006 3 47048629 [T/G] NM_015175 NBEAL2 EXON Missense_G2403V exm309009 3 47048785 [T/C] NM_015175 NBEAL2 EXON Missense_R2427C exm309010 3 47048786 [A/G] NM_015175 NBEAL2 EXON Missense_R2427H exm309019 3 47049387 [A/G] NM_015175 NBEAL2 EXON Missense_R2530Q exm2053294 3 47049827 [T/C] NM_015175 NBEAL2 EXON Missense_R2592W exm309031 3 47050052 [T/C] NM_015175 NBEAL2 EXON Missense_R2641W exm2053304 3 47079245 [T/C] NM_014159 SETD2 EXON Missense_T2421A exm309076 3 47088015 [T/C] NM_014159 SETD2 EXON Missense_T2354A exm309077 3 47088027 [T/C] NM_014159 SETD2 EXON Missense_A2350T exm309083 3 47098389 [T/C] NM_014159 SETD2 EXON Missense_I2295M exm309092 3 47098819 [T/C] NM_014159 SETD2 EXON Missense_Y2152C exm309107 3 47103773 [T/C] NM_014159 SETD2 EXON Missense_N2058S exm309108 3 47103777 [A/G] NM_014159 SETD2 EXON Missense_P2057S exm309126 3 47125370 [T/C] NM_014159 SETD2 EXON Missense_G1967D exm309127 3 47125385 [A/G] NM_014159 SETD2 EXON Missense_P1962L exm309129 3 47125419 [T/C] NM_014159 SETD2 EXON Missense_T1951A exm309131 3 47125458 [T/C] NM_014159 SETD2 EXON Missense_V1938I exm2256045 3 47125621 [A/G] NM_014159 SETD2 EXON Synonymous_I1883I exm309152 3 47129678 [G/C] NM_014159 SETD2 EXON Missense_Q1734H exm309217 3 47161933 [A/G] NM_014159 SETD2 EXON Missense_I1398T exm309219 3 47162066 [T/C] NM_014159 SETD2 EXON Missense_D1354N exm309221 3 47162092 [T/C] NM_014159 SETD2 EXON Missense_D1345G exm309245 3 47162704 [A/G] NM_014159 SETD2 EXON Missense_P1141L exm309254 3 47162886 [T/C] NM_014159 SETD2 EXON Missense_M1080I exm309255 3 47162897 [T/C] NM_014159 SETD2 EXON Missense_T1077A exm309256 3 47162990 [T/C] NM_014159 SETD2 EXON Missense_N1046D exm309259 3 47163029 [T/C] NM_014159 SETD2 EXON Missense_T1033A exm309271 3 47163328 [A/C] NM_014159 SETD2 EXON Missense_G933V exm309272 3 47163332 [T/C] NM_014159 SETD2 EXON Missense_V932I exm309273 3 47163343 [C/G] NM_014159 SETD2 EXON Missense_T928R exm309277 3 47163422 [C/G] NM_014159 SETD2 EXON Missense_E902Q exm309284 3 47163583 [A/G] NM_014159 SETD2 EXON Missense_A848V exm309285 3 47163676 [A/G] NM_014159 SETD2 EXON Missense_M817T exm309289 3 47163812 [T/C] NM_014159 SETD2 EXON Missense_K772E exm309290 3 47163824 [G/C] NM_014159 SETD2 EXON Missense_V768L exm2273918 3 47163843 [T/C] NM_014159 SETD2 EXON Missense_M761I exm309291 3 47163875 [T/G] NM_014159 SETD2 EXON Missense_P751T exm2053374 3 47163971 [T/C] NM_014159 SETD2 EXON Missense_N719D exm309302 3 47164223 [T/C] NM_014159 SETD2 EXON Missense_I635V exm309303 3 47164241 [T/C] NM_014159 SETD2 EXON Missense_K629E exm309309 3 47164351 [T/G] NM_014159 SETD2 EXON Missense_T592K exm309319 3 47164711 [T/C] NM_014159 SETD2 EXON Missense_R472H exm309354 3 47277065 [A/C] NR_033373,NM_001134878,NM_022342,NM_182902 KIF9-AS1,KIF9,KIF9,KIF9 EXON Silent,Missense_V754L,Missense_V689L,Missense_V754L exm309372 3 47282303 [A/G] NR_033373,NM_001134878,NM_022342,NM_182902 KIF9-AS1,KIF9,KIF9,KIF9 EXON Silent,Missense_R638W,Missense_R573W,Missense_R638W exm309373 3 47282313 [C/G] NR_033373,NM_001134878,NM_022342,NM_182902 KIF9-AS1,KIF9,KIF9,KIF9 EXON Silent,Missense_Q634H,Missense_Q569H,Missense_Q634H exm309374 3 47282362 [T/C] NR_033373,NM_001134878,NM_022342,NM_182902 KIF9-AS1,KIF9,KIF9,KIF9 EXON Silent,Missense_N618S,Missense_N553S,Missense_N618S exm2053415 3 47282435 [A/G] NR_033373,NM_001134878,NM_022342,NM_182902 KIF9-AS1,KIF9,KIF9,KIF9 EXON Silent,Nonsense_R594X,Nonsense_R529X,Nonsense_R594X exm309380 3 47284552 [T/A] NR_033373,NM_001134878,NM_022342,NM_182902 KIF9-AS1,KIF9,KIF9,KIF9 EXON Silent,Missense_L566F,Silent,Missense_L566F exm309383 3 47284565 [A/G] NR_033373,NM_001134878,NM_022342,NM_182902 KIF9-AS1,KIF9,KIF9,KIF9 EXON Silent,Missense_P562L,Silent,Missense_P562L exm309384 3 47284604 [T/C] NR_033373,NM_001134878,NM_022342,NM_182902 KIF9-AS1,KIF9,KIF9,KIF9 EXON Silent,Missense_R549Q,Silent,Missense_R549Q exm309386 3 47284611 [A/G] NR_033373,NM_001134878,NM_022342,NM_182902 KIF9-AS1,KIF9,KIF9,KIF9 EXON Silent,Missense_R547W,Silent,Missense_R547W exm309389 3 47284676 [A/C] NR_033373,NM_001134878,NM_022342,NM_182902 KIF9-AS1,KIF9,KIF9,KIF9 EXON Silent,Missense_V525G,Silent,Missense_V525G exm309397 3 47286320 [T/C] NM_001134878,NM_022342,NM_182902 KIF9,KIF9,KIF9 EXON Missense_K492R,Missense_K492R,Missense_K492R exm309404 3 47287700 [A/G] NM_001134878,NM_022342,NM_182902 KIF9,KIF9,KIF9 EXON Missense_R426W,Missense_R426W,Missense_R426W exm309412 3 47288913 [T/C] NM_001134878,NM_022342,NM_182902 KIF9,KIF9,KIF9 EXON Missense_I395V,Missense_I395V,Missense_I395V exm309413 3 47288960 [T/C] NM_001134878,NM_022342,NM_182902 KIF9,KIF9,KIF9 EXON Missense_R379H,Missense_R379H,Missense_R379H exm309414 3 47288961 [A/G] NM_001134878,NM_022342,NM_182902 KIF9,KIF9,KIF9 EXON Missense_R379C,Missense_R379C,Missense_R379C exm309432 3 47307226 [T/A] NM_001134878,NM_022342,NM_182902 KIF9,KIF9,KIF9 EXON Missense_S304T,Missense_S304T,Missense_S304T exm2256046 3 47307239 [A/G] NM_001134878,NM_022342,NM_182902 KIF9,KIF9,KIF9 EXON Synonymous_H299H,Synonymous_H299H,Synonymous_H299H exm309434 3 47307255 [T/G] NM_001134878,NM_022342,NM_182902 KIF9,KIF9,KIF9 EXON Missense_Q294P,Missense_Q294P,Missense_Q294P exm309436 3 47307276 [T/C] NM_001134878,NM_022342,NM_182902 KIF9,KIF9,KIF9 EXON Missense_R287Q,Missense_R287Q,Missense_R287Q exm309441 3 47308480 [T/G] NM_001134878,NM_022342,NM_182902 KIF9,KIF9,KIF9 EXON Missense_L252M,Missense_L252M,Missense_L252M exm309442 3 47308491 [T/C] NM_001134878,NM_022342,NM_182902 KIF9,KIF9,KIF9 EXON Missense_G248D,Missense_G248D,Missense_G248D exm309447 3 47308746 [A/G] NM_001134878,NM_022342,NM_182902 KIF9,KIF9,KIF9 EXON Missense_T200I,Missense_T200I,Missense_T200I exm309452 3 47312813 [T/C] NM_001134878,NM_022342,NM_182902 KIF9,KIF9,KIF9 EXON Missense_V169M,Missense_V169M,Missense_V169M exm309454 3 47312827 [A/G] NM_001134878,NM_022342,NM_182902 KIF9,KIF9,KIF9 EXON Missense_T164I,Missense_T164I,Missense_T164I exm309457 3 47312906 [A/G] NM_001134878,NM_022342,NM_182902 KIF9,KIF9,KIF9 EXON Missense_R138C,Missense_R138C,Missense_R138C exm2239658 3 47316842 [T/C] NM_001134878,NM_022342,NM_182902 KIF9,KIF9,KIF9 EXON Missense_V78I,Missense_V78I,Missense_V78I exm309467 3 47316887 [T/C] NM_001134878,NM_022342,NM_182902 KIF9,KIF9,KIF9 EXON Missense_D63N,Missense_D63N,Missense_D63N exm309470 3 47316952 [A/G] NM_001134878,NM_022342,NM_182902 KIF9,KIF9,KIF9 EXON Missense_I41T,Missense_I41T,Missense_I41T exm309479 3 47318825 [T/C] NM_001134878,NM_022342,NM_182902 KIF9,KIF9,KIF9 EXON Missense_K14E,Missense_K14E,Missense_K14E exm2273919 3 47318830 [A/C] NM_001134878,NM_022342,NM_182902 KIF9,KIF9,KIF9 EXON Missense_R12L,Missense_R12L,Missense_R12L exm309500 3 47374680 [A/G] NM_025010 KLHL18 EXON Missense_D212N exm309506 3 47374744 [A/G] NM_025010 KLHL18 EXON Missense_R233Q exm309511 3 47376277 [T/A] NM_025010 KLHL18 EXON Missense_L289H exm309515 3 47378058 [T/C] NM_025010 KLHL18 EXON Missense_P311L exm309521 3 47378189 [A/G] NM_025010 KLHL18 EXON Missense_A355T exm309524 3 47378219 [A/G] NM_025010 KLHL18 EXON Missense_R365G exm309569 3 47446239 [T/C] NM_015466 PTPN23 EXON Missense_S86L exm2053510 3 47447463 [A/G] NM_015466 PTPN23 EXON Missense_R158Q exm309580 3 47447473 [A/C] NM_015466 PTPN23 EXON Missense_F161L exm309585 3 47447884 [A/G] NM_015466 PTPN23 EXON Missense_I206V exm309595 3 47448094 [A/G] NM_015466 PTPN23 EXON Missense_V251M exm309600 3 47448214 [A/G] NM_015466 PTPN23 EXON Missense_E261K exm309603 3 47448239 [A/G] NM_015466 PTPN23 EXON Missense_R269Q exm309634 3 47449941 [T/C] NM_015466 PTPN23 EXON Missense_R431W exm309645 3 47450514 [T/C] NM_015466 PTPN23 EXON Missense_R527C exm309646 3 47450515 [A/G] NM_015466 PTPN23 EXON Missense_R527H exm309658 3 47450982 [T/C] NM_015466 PTPN23 EXON Missense_R625C exm309659 3 47450983 [A/G] NM_015466 PTPN23 EXON Missense_R625H exm309670 3 47451299 [A/G] NM_015466 PTPN23 EXON Missense_A702T exm309680 3 47451545 [A/G] NM_015466 PTPN23 EXON Missense_V753M exm309692 3 47451678 [T/C] NM_015466 PTPN23 EXON Missense_S797L exm309701 3 47451815 [A/G] NM_015466 PTPN23 EXON Missense_V843M exm309702 3 47451833 [A/G] NM_015466 PTPN23 EXON Missense_V849M exm309708 3 47451915 [T/C] NM_015466 PTPN23 EXON Missense_A876V exm2275663 3 47451980 [C/G] NM_015466 PTPN23 EXON Missense_R898G exm2239661 3 47452070 [A/G] NM_015466 PTPN23 EXON Missense_A928T exm309718 3 47452118 [A/G] NM_015466 PTPN23 EXON Missense_A944T exm309727 3 47452311 [T/G] NM_015466 PTPN23 EXON Missense_G1008V exm309729 3 47452339 [C/G] NM_015466 PTPN23 EXON Missense_Q1017H exm309746 3 47452572 [G/C] NM_015466 PTPN23 EXON Missense_G1095A exm309747 3 47452583 [T/C] NM_015466 PTPN23 EXON Missense_P1099S exm309750 3 47452676 [A/G] NM_015466 PTPN23 EXON Missense_G1130S exm309759 3 47452772 [T/C] NM_015466 PTPN23 EXON Missense_R1162W exm309764 3 47452833 [A/G] NM_015466 PTPN23 EXON Missense_R1182Q exm309774 3 47453036 [A/G] NM_015466 PTPN23 EXON Missense_E1250K exm309775 3 47453061 [T/C] NM_015466 PTPN23 EXON Missense_P1258L exm309782 3 47453285 [T/C] NM_015466 PTPN23 EXON Missense_R1301C exm309787 3 47453340 [T/C] NM_015466 PTPN23 EXON Missense_A1319V exm309790 3 47453372 [A/G] NM_015466 PTPN23 EXON Missense_V1330M exm309799 3 47453616 [A/G] NM_015466 PTPN23 EXON Missense_R1369H exm309802 3 47453665 [C/G] NM_015466 PTPN23 EXON Missense_H1385Q exm309807 3 47453879 [T/C] NM_015466 PTPN23 EXON Missense_R1429W exm309811 3 47454023 [A/G] NM_015466 PTPN23 EXON Missense_Y1446C exm309813 3 47454046 [A/G] NM_015466 PTPN23 EXON Missense_E1454K exm309830 3 47454473 [T/C] NM_015466 PTPN23 EXON Missense_S1570L exm309862 3 47455807 [C/G] NM_012235 SCAP EXON Missense_V1153L exm309865 3 47455825 [T/C] NM_012235 SCAP EXON Missense_V1147I exm309866 3 47456076 [T/C] NM_012235 SCAP EXON Missense_V1125M exm309882 3 47458640 [T/C] NM_012235 SCAP EXON Missense_I1010V exm309898 3 47459050 [T/C] NM_012235 SCAP EXON Missense_R905Q exm309910 3 47459195 [A/G] NM_012235 SCAP EXON Missense_R857C exm309945 3 47460314 [T/C] NM_012235 SCAP EXON Missense_V654I exm309954 3 47460960 [A/G] NM_012235 SCAP EXON Missense_R600C exm309955 3 47460969 [A/T] NM_012235 SCAP EXON Missense_S597T exm2053605 3 47461115 [A/G] NM_012235 SCAP EXON Missense_T548M exm309966 3 47462093 [T/C] NM_012235 SCAP EXON Missense_R505H exm2239668 3 47462171 [A/G] NM_012235 SCAP EXON Missense_A479V exm309971 3 47462192 [A/G] NM_012235 SCAP EXON Missense_T472M exm309989 3 47467487 [A/G] NM_012235 SCAP EXON Missense_R304W exm309994 3 47467612 [A/G] NM_012235 SCAP EXON Missense_P262L exm310001 3 47468698 [T/C] NM_012235 SCAP EXON Missense_K229R exm310033 3 47537594 [A/T] NM_001031703 ELP6 EXON Missense_F256I exm310035 3 47537633 [A/C] NM_001031703 ELP6 EXON Missense_F243V exm310044 3 47539870 [T/C] NM_001031703 ELP6 EXON Missense_N193S exm2239671 3 47545850 [T/C] NM_001031703 ELP6 EXON Missense_Q98R exm310064 3 47545916 [T/C] NM_001031703 ELP6 EXON Missense_R76Q exm310066 3 47545919 [A/G] NM_001031703 ELP6 EXON Missense_A75V exm310073 3 47552683 [T/C] NM_001031703 ELP6 EXON Missense_D30N exm2269621 3 47575568 [T/C] exm310089 3 47610572 [T/C] NM_001206942,NM_006574,NM_001206945,NM_001206944,NM_001206943 CSPG5,CSPG5,CSPG5,CSPG5,CSPG5 EXON Silent,Silent,Missense_V372I,Silent,Missense_V510I exm310099 3 47614239 [A/G] NM_001206942,NM_006574,NM_001206945,NM_001206944,NM_001206943 CSPG5,CSPG5,CSPG5,CSPG5,CSPG5 EXON Missense_T302M,Missense_T440M,Missense_T302M,Missense_T440M,Missense_T440M exm310110 3 47618437 [T/C] NM_001206942,NM_006574,NM_001206945,NM_001206944,NM_001206943 CSPG5,CSPG5,CSPG5,CSPG5,CSPG5 EXON Missense_R222H,Missense_R360H,Missense_R222H,Missense_R360H,Missense_R360H exm310120 3 47618516 [T/C] NM_001206942,NM_006574,NM_001206945,NM_001206944,NM_001206943 CSPG5,CSPG5,CSPG5,CSPG5,CSPG5 EXON Missense_G196S,Missense_G334S,Missense_G196S,Missense_G334S,Missense_G334S exm2239672 3 47618639 [C/G] NM_001206942,NM_006574,NM_001206945,NM_001206944,NM_001206943 CSPG5,CSPG5,CSPG5,CSPG5,CSPG5 EXON Missense_D155H,Missense_D293H,Missense_D155H,Missense_D293H,Missense_D293H exm310131 3 47618825 [A/C] NM_001206942,NM_006574,NM_001206945,NM_001206944,NM_001206943 CSPG5,CSPG5,CSPG5,CSPG5,CSPG5 EXON Missense_S93A,Missense_S231A,Missense_S93A,Missense_S231A,Missense_S231A exm310136 3 47618921 [C/G] NM_001206942,NM_006574,NM_001206945,NM_001206944,NM_001206943 CSPG5,CSPG5,CSPG5,CSPG5,CSPG5 EXON Missense_L61V,Missense_L199V,Missense_L61V,Missense_L199V,Missense_L199V exm310138 3 47618953 [A/C] NM_001206942,NM_006574,NM_001206945,NM_001206944,NM_001206943 CSPG5,CSPG5,CSPG5,CSPG5,CSPG5 EXON Missense_G50V,Missense_G188V,Missense_G50V,Missense_G188V,Missense_G188V exm310140 3 47619025 [C/G] NM_001206942,NM_006574,NM_001206945,NM_001206944,NM_001206943 CSPG5,CSPG5,CSPG5,CSPG5,CSPG5 EXON Missense_A26G,Missense_A164G,Missense_A26G,Missense_A164G,Missense_A164G exm310144 3 47619109 [T/C] NM_001206942,NM_006574,NM_001206945,NM_001206944,NM_001206943 CSPG5,CSPG5,CSPG5,CSPG5,CSPG5 EXON Silent,Missense_Q136R,Silent,Missense_Q136R,Missense_Q136R exm310171 3 47632160 [T/C] NM_003074 SMARCC1 EXON Missense_N1071D exm2273921 3 47702865 [T/C] NM_003074 SMARCC1 EXON Missense_A747T exm310217 3 47717058 [T/C] NM_003074 SMARCC1 EXON Missense_M582I exm310255 3 47777540 [A/G] NM_003074 SMARCC1 EXON Missense_I187T exm310256 3 47777559 [T/C] NM_003074 SMARCC1 EXON Missense_A181T exm310258 3 47777612 [T/C] NM_003074 SMARCC1 EXON Missense_N163S exm310297 3 47882517 [A/G] NM_014966,NM_138615 DHX30,DHX30 EXON Missense_I134V,Missense_I173V exm310301 3 47882649 [A/G] NM_014966,NM_138615 DHX30,DHX30 EXON Missense_A178T,Missense_A217T exm310306 3 47884735 [A/G] NM_014966,NM_138615 DHX30,DHX30 EXON Missense_K271R,Missense_K310R exm2256049 3 47887849 [A/G] NM_014966,NM_138615 DHX30,DHX30 EXON Synonymous_Q390Q,Synonymous_Q429Q exm310328 3 47888228 [A/G] NM_014966,NM_138615 DHX30,DHX30 EXON Missense_V517I,Missense_V556I exm310336 3 47888367 [A/T] NM_014966,NM_138615 DHX30,DHX30 EXON Missense_Y563F,Missense_Y602F exm310411 3 47894380 [T/C] NM_001134364,NM_002375 MAP4,MAP4 EXON Missense_D1104N,Silent exm310430 3 47908815 [A/G] NM_001134364,NM_002375 MAP4,MAP4 EXON Missense_S996F,Missense_S996F exm310431 3 47908822 [T/C] NM_001134364,NM_002375 MAP4,MAP4 EXON Missense_I994V,Missense_I994V exm2256050 3 47910803 [T/C] NM_001134364,NM_002375 MAP4,MAP4 EXON Synonymous_K958K,Synonymous_K958K exm310436 3 47912305 [A/G] NM_001134364,NM_002375 MAP4,MAP4 EXON Missense_R953W,Missense_R953W exm310445 3 47912433 [A/G] NM_001134364,NM_002375 MAP4,MAP4 EXON Missense_S910L,Missense_S910L exm310449 3 47912491 [T/C] NM_001134364,NM_002375 MAP4,MAP4 EXON Missense_A891T,Missense_A891T exm310466 3 47913430 [A/G] NM_001134364,NM_002375 MAP4,MAP4 EXON Missense_T828M,Missense_T828M exm310525 3 47956384 [T/C] NM_001134364,NM_002375 MAP4,MAP4 EXON Missense_E641G,Missense_E641G exm310528 3 47956424 [T/C] NM_001134364,NM_002375 MAP4,MAP4 EXON Missense_V628I,Missense_V628I exm310532 3 47957480 [T/C] NM_001134364,NM_002375 MAP4,MAP4 EXON Missense_V613M,Missense_V613M exm310533 3 47957493 [T/A] NM_001134364,NM_002375 MAP4,MAP4 EXON Missense_E608D,Missense_E608D exm310539 3 47957596 [T/G] NM_001134364,NM_002375 MAP4,MAP4 EXON Missense_K574T,Missense_K574T exm310540 3 47957606 [T/G] NM_001134364,NM_002375 MAP4,MAP4 EXON Missense_T571P,Missense_T571P exm310543 3 47957668 [A/G] NM_001134364,NM_002375 MAP4,MAP4 EXON Missense_P550L,Missense_P550L exm310547 3 47957717 [T/C] NM_001134364,NM_002375 MAP4,MAP4 EXON Missense_V534I,Missense_V534I exm310548 3 47957741 [T/C] NM_001134364,NM_002375 MAP4,MAP4 EXON Missense_T526A,Missense_T526A exm310560 3 47957996 [C/G] NM_001134364,NM_002375 MAP4,MAP4 EXON Missense_E441Q,Missense_E441Q exm310563 3 47958037 [T/G] NM_001134364,NM_002375 MAP4,MAP4 EXON Missense_S427Y,Missense_S427Y exm310568 3 47958136 [T/C] NM_001134364,NM_002375 MAP4,MAP4 EXON Missense_K394R,Missense_K394R exm310570 3 47958161 [T/C] NM_001134364,NM_002375 MAP4,MAP4 EXON Missense_I386V,Missense_I386V exm310571 3 47958224 [A/C] NM_001134364,NM_002375 MAP4,MAP4 EXON Missense_A365S,Missense_A365S exm310584 3 47960263 [A/G] NM_001134364,NM_002375 MAP4,MAP4 EXON Missense_S200P,Missense_S200P exm310588 3 47963320 [A/G] NM_001134364,NM_002375 MAP4,MAP4 EXON Missense_P155L,Missense_P155L exm310592 3 47969730 [A/G] NM_001134364,NM_002375 MAP4,MAP4 EXON Missense_P135S,Missense_P135S exm310608 3 48019420 [A/G] NM_001134364,NM_002375,NM_030885 MAP4,MAP4,MAP4 EXON Missense_T76I,Missense_T76I,Missense_T76I exm310612 3 48040174 [G/C] NM_001134364,NM_002375,NM_030885 MAP4,MAP4,MAP4 EXON Missense_N59K,Missense_N59K,Missense_N59K exm310618 3 48040283 [T/C] NM_001134364,NM_002375,NM_030885 MAP4,MAP4,MAP4 EXON Missense_R23Q,Missense_R23Q,Missense_R23Q exm2239686 3 48040284 [A/G] NM_001134364,NM_002375,NM_030885 MAP4,MAP4,MAP4 EXON Missense_R23W,Missense_R23W,Missense_R23W exm2053833 3 48040317 [T/C] NM_001134364,NM_002375,NM_030885 MAP4,MAP4,MAP4 EXON Missense_E12K,Missense_E12K,Missense_E12K exm310630 3 48200898 [T/C] NM_001789,NM_201567 CDC25A,CDC25A EXON Missense_K457R,Missense_K417R exm310643 3 48207367 [A/G] NM_001789,NM_201567 CDC25A,CDC25A EXON Missense_T349I,Missense_T309I exm310649 3 48209403 [A/G] NM_001789,NM_201567 CDC25A,CDC25A EXON Missense_S321F,Missense_S281F exm310652 3 48215802 [T/A] NM_001789,NM_201567 CDC25A,CDC25A EXON Missense_E301V,Missense_E261V exm2053855 3 48215844 [T/C] NM_001789,NM_201567 CDC25A,CDC25A EXON Missense_S287N,Missense_S247N exm310653 3 48215869 [A/G] NM_001789,NM_201567 CDC25A,CDC25A EXON Missense_S279P,Missense_S239P exm310663 3 48222216 [A/G] NM_001789,NM_201567 CDC25A,CDC25A EXON Missense_R182W,Silent exm310671 3 48224457 [T/C] NM_001789,NM_201567 CDC25A,CDC25A EXON Missense_I131V,Missense_I131V exm310689 3 48229366 [A/C] NM_001789,NM_201567 CDC25A,CDC25A EXON Missense_Q24H,Missense_Q24H exm2053874 3 48265146 [T/C] NM_004345 CAMP EXON Missense_R52W exm310700 3 48265171 [A/G] NM_004345 CAMP EXON Missense_R60H exm310714 3 48266819 [T/C] NM_004345 CAMP EXON Missense_R143W exm310722 3 48282695 [A/G] NM_016089 ZNF589 EXON Missense_T12A exm310742 3 48309617 [T/C] NM_016089 ZNF589 EXON Nonsense_R146X exm310746 3 48309707 [A/G] NM_016089 ZNF589 EXON Missense_I176V exm310747 3 48309828 [C/G] NM_016089 ZNF589 EXON Missense_T216R exm310749 3 48309903 [A/C] NM_016089 ZNF589 EXON Missense_S241Y exm310750 3 48309944 [T/C] NM_016089 ZNF589 EXON Nonsense_R255X exm310758 3 48310055 [T/C] NM_016089 ZNF589 EXON Missense_R292C exm310760 3 48310113 [A/G] NM_016089 ZNF589 EXON Missense_R311Q exm310765 3 48310206 [A/G] NM_016089 ZNF589 EXON Missense_R342H exm310778 3 48336263 [T/G] NM_005793 NME6 EXON Missense_A150E exm310779 3 48336266 [A/G] NM_005793 NME6 EXON Missense_I149T exm310780 3 48336566 [T/C] NM_005793 NME6 EXON Synonymous_S139S exm310782 3 48336622 [A/C] NM_005793 NME6 EXON Missense_D121Y exm310785 3 48336643 [A/G] NM_005793 NME6 EXON Nonsense_R114X exm310787 3 48336669 [A/G] NM_005793 NME6 EXON Missense_T105M exm310796 3 48337624 [A/C] NM_005793 NME6 EXON Missense_V81G exm310802 3 48339937 [T/C] NM_005793 NME6 EXON Missense_A32T exm310805 3 48340010 [A/C] NM_005793 NME6 EXON Missense_S7R exm310806 3 48340012 [T/C] NM_005793 NME6 EXON Missense_S7G exm310819 3 48360992 [T/G] NM_001080525 SPINK8 EXON Missense_K78N exm310820 3 48361027 [T/C] NM_001080525 SPINK8 EXON Missense_V67I exm310821 3 48361053 [T/C] NM_001080525 SPINK8 EXON Missense_S58N exm310825 3 48369830 [A/G] NM_001080525 SPINK8 EXON Missense_M1T exm310831 3 48414274 [T/C] NM_001159929,NM_001159927,NM_207102 FBXW12,FBXW12,FBXW12 EXON Silent,Missense_P6L,Missense_P6L exm310842 3 48415052 [A/C] NM_001159929,NM_001159927,NM_207102 FBXW12,FBXW12,FBXW12 EXON Missense_Q29P,Missense_Q48P,Missense_Q48P exm310848 3 48415154 [G/C] NM_001159929,NM_001159927,NM_207102 FBXW12,FBXW12,FBXW12 EXON Missense_A63G,Missense_A82G,Missense_A82G exm2265444 3 48416756 [A/G] NM_001159929,NM_001159927,NM_207102 FBXW12,FBXW12,FBXW12 Silent,Silent,Silent exm2053924 3 48416853 [A/C] NM_001159929,NM_001159927,NM_207102 FBXW12,FBXW12,FBXW12 EXON Missense_T80K,Missense_T99K,Missense_T99K exm310856 3 48416919 [A/G] NM_001159929,NM_001159927,NM_207102 FBXW12,FBXW12,FBXW12 EXON Missense_S102N,Missense_S121N,Missense_S121N exm310857 3 48416954 [T/G] NM_001159929,NM_001159927,NM_207102 FBXW12,FBXW12,FBXW12 EXON Missense_V114L,Missense_V133L,Missense_V133L exm310863 3 48419897 [T/C] NM_001159929,NM_001159927,NM_207102 FBXW12,FBXW12,FBXW12 EXON Missense_R147W,Silent,Missense_R166W exm310864 3 48419898 [A/G] NM_001159929,NM_001159927,NM_207102 FBXW12,FBXW12,FBXW12 EXON Missense_R147Q,Silent,Missense_R166Q exm2053929 3 48419952 [T/C] NM_001159929,NM_001159927,NM_207102 FBXW12,FBXW12,FBXW12 EXON Missense_L165P,Silent,Missense_L184P exm310867 3 48419957 [A/G] NM_001159929,NM_001159927,NM_207102 FBXW12,FBXW12,FBXW12 EXON Missense_M167V,Silent,Missense_M186V exm310870 3 48420943 [A/T] NM_001159929,NM_001159927,NM_207102 FBXW12,FBXW12,FBXW12 EXON Missense_D204E,Missense_D153E,Missense_D223E exm310871 3 48420987 [A/G] NM_001159929,NM_001159927,NM_207102 FBXW12,FBXW12,FBXW12 EXON Missense_H219R,Missense_H168R,Missense_H238R exm310878 3 48422235 [T/A] NM_001159929,NM_001159927,NM_207102 FBXW12,FBXW12,FBXW12 EXON Missense_V254D,Missense_V203D,Missense_V273D exm310880 3 48422276 [A/G] NM_001159929,NM_001159927,NM_207102 FBXW12,FBXW12,FBXW12 EXON Missense_A268T,Missense_A217T,Missense_A287T exm310893 3 48423472 [A/G] NM_001159929,NM_001159927,NM_207102 FBXW12,FBXW12,FBXW12 EXON Missense_E379K,Missense_E328K,Missense_E398K exm310946 3 48451889 [T/C] NM_002673,NM_001130082 PLXNB1,PLXNB1 EXON Missense_R1832H,Missense_R1832H exm310958 3 48452394 [T/C] NM_002673,NM_001130082 PLXNB1,PLXNB1 EXON Missense_V1767M,Missense_V1767M exm310962 3 48453279 [T/C] NM_002673,NM_001130082 PLXNB1,PLXNB1 EXON Missense_R1747H,Missense_R1747H exm310963 3 48453280 [A/G] NM_002673,NM_001130082 PLXNB1,PLXNB1 EXON Missense_R1747C,Missense_R1747C exm310978 3 48453990 [A/G] NM_002673,NM_001130082 PLXNB1,PLXNB1 EXON Missense_R1632W,Missense_R1632W exm310994 3 48455155 [T/C] NM_002673,NM_001130082 PLXNB1,PLXNB1 EXON Missense_V1487M,Missense_V1487M exm2273922 3 48455393 [A/G] NM_002673,NM_001130082 PLXNB1,PLXNB1 EXON Missense_H1433Y,Missense_H1433Y exm311006 3 48456270 [A/G] NM_002673,NM_001130082 PLXNB1,PLXNB1 EXON Missense_L1383F,Missense_L1383F exm311013 3 48456404 [T/C] NM_002673,NM_001130082 PLXNB1,PLXNB1 EXON Missense_R1338H,Missense_R1338H exm311017 3 48456431 [A/G] NM_002673,NM_001130082 PLXNB1,PLXNB1 EXON Missense_V1329A,Missense_V1329A exm311018 3 48456440 [A/G] NM_002673,NM_001130082 PLXNB1,PLXNB1 EXON Missense_P1326L,Missense_P1326L exm311019 3 48456584 [T/C] NM_002673,NM_001130082 PLXNB1,PLXNB1 Silent,Silent exm311024 3 48456673 [A/G] NM_002673,NM_001130082 PLXNB1,PLXNB1 EXON Missense_M1293T,Missense_M1293T exm311045 3 48457545 [T/C] NM_002673,NM_001130082 PLXNB1,PLXNB1 EXON Missense_R1171H,Missense_R1171H exm311059 3 48459435 [A/G] NM_002673,NM_001130082 PLXNB1,PLXNB1 EXON Missense_R1087C,Missense_R1087C exm2054007 3 48459686 [T/C] NM_002673,NM_001130082 PLXNB1,PLXNB1 EXON Missense_G1046R,Missense_G1046R exm311065 3 48459730 [T/C] NM_002673,NM_001130082 PLXNB1,PLXNB1 EXON Missense_R1031H,Missense_R1031H exm311066 3 48459731 [A/G] NM_002673,NM_001130082 PLXNB1,PLXNB1 EXON Missense_R1031C,Missense_R1031C exm311088 3 48460768 [A/G] NM_002673,NM_001130082 PLXNB1,PLXNB1 EXON Missense_A906V,Missense_A906V exm311112 3 48461377 [A/G] NM_002673,NM_001130082 PLXNB1,PLXNB1 EXON Missense_P773L,Missense_P773L exm311118 3 48461605 [A/G] NM_002673,NM_001130082 PLXNB1,PLXNB1 EXON Missense_A697V,Missense_A697V exm311126 3 48462266 [A/G] NM_002673,NM_001130082 PLXNB1,PLXNB1 EXON Missense_P637L,Missense_P637L exm311159 3 48463799 [T/G] NM_002673,NM_001130082 PLXNB1,PLXNB1 EXON Missense_S454R,Missense_S454R exm311160 3 48463832 [A/C] NM_002673,NM_001130082 PLXNB1,PLXNB1 EXON Missense_S443A,Missense_S443A exm311161 3 48463856 [A/G] NM_002673,NM_001130082 PLXNB1,PLXNB1 EXON Missense_P435S,Missense_P435S exm311163 3 48464278 [A/G] NM_002673,NM_001130082 PLXNB1,PLXNB1 EXON Missense_P396S,Missense_P396S exm311167 3 48464979 [T/C] NM_002673,NM_001130082 PLXNB1,PLXNB1 EXON Missense_E348K,Missense_E348K exm311170 3 48465029 [T/C] NM_002673,NM_001130082 PLXNB1,PLXNB1 EXON Missense_R331Q,Missense_R331Q exm311173 3 48465092 [A/G] NM_002673,NM_001130082 PLXNB1,PLXNB1 EXON Missense_S310L,Missense_S310L exm2054050 3 48465113 [C/G] NM_002673,NM_001130082 PLXNB1,PLXNB1 EXON Missense_P303R,Missense_P303R exm311177 3 48465168 [T/C] NM_002673,NM_001130082 PLXNB1,PLXNB1 EXON Missense_R285G,Missense_R285G exm311178 3 48465173 [A/G] NM_002673,NM_001130082 PLXNB1,PLXNB1 EXON Missense_T283M,Missense_T283M exm311186 3 48465366 [T/C] NM_002673,NM_001130082 PLXNB1,PLXNB1 EXON Missense_V219M,Missense_V219M exm311216 3 48473953 [C/G] NM_024661,NM_001256966,NM_001256965,NM_001256968,NM_001256964,NM_001256969,NM_001256967 CCDC51,CCDC51,CCDC51,CCDC51,CCDC51,CCDC51,CCDC51 EXON Missense_M367I,Missense_M258I,Missense_M258I,Missense_M258I,Missense_M367I,Missense_M258I,Missense_M258I exm311218 3 48474024 [T/C] NM_024661,NM_001256966,NM_001256965,NM_001256968,NM_001256964,NM_001256969,NM_001256967 CCDC51,CCDC51,CCDC51,CCDC51,CCDC51,CCDC51,CCDC51 EXON Missense_A344T,Missense_A235T,Missense_A235T,Missense_A235T,Missense_A344T,Missense_A235T,Missense_A235T exm311222 3 48474086 [T/C] NM_024661,NM_001256966,NM_001256965,NM_001256968,NM_001256964,NM_001256969,NM_001256967 CCDC51,CCDC51,CCDC51,CCDC51,CCDC51,CCDC51,CCDC51 EXON Missense_Q323R,Missense_Q214R,Missense_Q214R,Missense_Q214R,Missense_Q323R,Missense_Q214R,Missense_Q214R exm311223 3 48474092 [T/C] NM_024661,NM_001256966,NM_001256965,NM_001256968,NM_001256964,NM_001256969,NM_001256967 CCDC51,CCDC51,CCDC51,CCDC51,CCDC51,CCDC51,CCDC51 EXON Missense_R321Q,Missense_R212Q,Missense_R212Q,Missense_R212Q,Missense_R321Q,Missense_R212Q,Missense_R212Q exm311230 3 48474258 [T/C] NM_024661,NM_001256966,NM_001256965,NM_001256968,NM_001256964,NM_001256969,NM_001256967 CCDC51,CCDC51,CCDC51,CCDC51,CCDC51,CCDC51,CCDC51 EXON Missense_M266V,Missense_M157V,Missense_M157V,Missense_M157V,Missense_M266V,Missense_M157V,Missense_M157V exm2239701 3 48474284 [T/C] NM_024661,NM_001256966,NM_001256965,NM_001256968,NM_001256964,NM_001256969,NM_001256967 CCDC51,CCDC51,CCDC51,CCDC51,CCDC51,CCDC51,CCDC51 EXON Missense_R257H,Missense_R148H,Missense_R148H,Missense_R148H,Missense_R257H,Missense_R148H,Missense_R148H exm311233 3 48474359 [A/G] NM_024661,NM_001256966,NM_001256965,NM_001256968,NM_001256964,NM_001256969,NM_001256967 CCDC51,CCDC51,CCDC51,CCDC51,CCDC51,CCDC51,CCDC51 EXON Missense_A232V,Missense_A123V,Missense_A123V,Missense_A123V,Missense_A232V,Missense_A123V,Missense_A123V exm311250 3 48475236 [A/G] NM_024661,NM_001256966,NM_001256965,NM_001256968,NM_001256964,NM_001256969,NM_001256967 CCDC51,CCDC51,CCDC51,CCDC51,CCDC51,CCDC51,CCDC51 EXON Missense_R120W,Missense_R11W,Missense_R11W,Missense_R11W,Missense_R120W,Missense_R11W,Missense_R11W exm311256 3 48476261 [T/C] NM_024661,NM_001256966,NM_001256965,NM_001256968,NM_001256964,NM_001256969,NM_001256967 CCDC51,CCDC51,CCDC51,CCDC51,CCDC51,CCDC51,CCDC51 EXON Missense_N93S,Silent,Silent,Silent,Missense_N93S,Silent,Silent exm311258 3 48476297 [C/G] NM_024661,NM_001256966,NM_001256965,NM_001256968,NM_001256964,NM_001256969,NM_001256967 CCDC51,CCDC51,CCDC51,CCDC51,CCDC51,CCDC51,CCDC51 EXON Missense_T81S,Silent,Silent,Silent,Missense_T81S,Silent,Silent exm311262 3 48476406 [T/C] NM_024661,NM_001256966,NM_001256965,NM_001256968,NM_001256964,NM_001256969,NM_001256967 CCDC51,CCDC51,CCDC51,CCDC51,CCDC51,CCDC51,CCDC51 EXON Missense_G45R,Silent,Silent,Silent,Missense_G45R,Silent,Silent exm-rs9876781 3 48487338 [A/G] exm2054085 3 48488219 [T/C] NM_130384,NM_032166,NM_001271022 ATRIP,ATRIP,ATRIP EXON Silent,Silent,Silent exm311296 3 48491568 [A/C] NM_130384,NM_032166,NM_001271022,NM_001271023 ATRIP,ATRIP,ATRIP,ATRIP EXON Missense_K125Q,Missense_K125Q,Silent,Missense_K32Q exm311300 3 48493268 [A/G] NM_130384,NM_032166,NM_001271022,NM_001271023 ATRIP,ATRIP,ATRIP,ATRIP EXON Missense_Q172R,Missense_Q172R,Missense_Q45R,Missense_Q79R exm311320 3 48501519 [A/G] NM_130384,NM_032166,NM_001271022,NM_001271023 ATRIP,ATRIP,ATRIP,ATRIP EXON Missense_G356R,Missense_G356R,Missense_G229R,Missense_G263R exm311326 3 48501625 [A/G] NM_130384,NM_032166,NM_001271022,NM_001271023 ATRIP,ATRIP,ATRIP,ATRIP EXON Missense_R391Q,Missense_R391Q,Missense_R264Q,Missense_R298Q exm311337 3 48501819 [A/G] NM_130384,NM_032166,NM_001271022,NM_001271023 ATRIP,ATRIP,ATRIP,ATRIP EXON Missense_V456M,Missense_V456M,Missense_V329M,Missense_V363M exm311347 3 48501991 [T/C] NM_130384,NM_032166,NM_001271022,NM_001271023 ATRIP,ATRIP,ATRIP,ATRIP EXON Missense_L513P,Missense_L513P,Missense_L386P,Missense_L420P exm311367 3 48506017 [T/C] NM_130384,NM_032166,NM_001271022,NM_001271023 ATRIP,ATRIP,ATRIP,ATRIP EXON Missense_P671S,Silent,Missense_P544S,Missense_P578S exm311368 3 48506049 [G/C] NM_130384,NM_032166,NM_001271022,NM_001271023 ATRIP,ATRIP,ATRIP,ATRIP EXON Missense_Q681H,Silent,Missense_Q554H,Missense_Q588H exm311374 3 48506279 [A/G] NM_130384,NM_032166,NM_001271022,NM_001271023 ATRIP,ATRIP,ATRIP,ATRIP EXON Missense_R702Q,Missense_R675Q,Missense_R575Q,Missense_R609Q exm2054109 3 48506305 [A/G] NM_130384,NM_032166,NM_001271022,NM_001271023 ATRIP,ATRIP,ATRIP,ATRIP EXON Missense_D711N,Missense_D684N,Missense_D584N,Missense_D618N exm311375 3 48506389 [T/A] NM_130384,NM_032166,NM_001271022,NM_001271023 ATRIP,ATRIP,ATRIP,ATRIP EXON Missense_M739L,Missense_M712L,Missense_M612L,Missense_M646L exm311380 3 48506471 [T/C] NM_130384,NM_032166,NM_001271022,NM_001271023 ATRIP,ATRIP,ATRIP,ATRIP EXON Missense_T766M,Missense_T739M,Missense_T639M,Missense_T673M exm311381 3 48506476 [T/G] NM_130384,NM_032166,NM_001271022,NM_001271023 ATRIP,ATRIP,ATRIP,ATRIP EXON Missense_C768G,Missense_C741G,Missense_C641G,Missense_C675G exm311390 3 48507894 [A/G] NM_033629,NM_016381,NM_007248 TREX1,TREX1,TREX1 EXON Silent,Missense_G2D,Silent exm311393 3 48507933 [A/G] NM_033629,NM_016381,NM_007248 TREX1,TREX1,TREX1 EXON Silent,Missense_R15K,Silent exm311417 3 48508392 [A/G] NM_033629,NM_016381,NM_007248 TREX1,TREX1,TREX1 EXON Missense_R113Q,Missense_R168Q,Missense_R103Q exm2054123 3 48508395 [A/G] NM_033629,NM_016381,NM_007248 TREX1,TREX1,TREX1 EXON Missense_R114H,Missense_R169H,Missense_R104H exm2054126 3 48508545 [A/G] NM_033629,NM_016381,NM_007248 TREX1,TREX1,TREX1 EXON Missense_R164Q,Missense_R219Q,Missense_R154Q exm311427 3 48508607 [T/C] NM_033629,NM_016381,NM_007248 TREX1,TREX1,TREX1 EXON Missense_R185C,Missense_R240C,Missense_R175C exm311432 3 48508732 [C/G] NM_033629,NM_016381,NM_007248 TREX1,TREX1,TREX1 EXON Missense_F226L,Missense_F281L,Missense_F216L exm311433 3 48508733 [A/G] NM_033629,NM_016381,NM_007248 TREX1,TREX1,TREX1 EXON Missense_G227S,Missense_G282S,Missense_G217S exm311437 3 48508774 [G/C] NM_033629,NM_016381,NM_007248 TREX1,TREX1,TREX1 EXON Missense_R240S,Missense_R295S,Missense_R230S exm311439 3 48508793 [C/G] NM_033629,NM_016381,NM_007248 TREX1,TREX1,TREX1 EXON Missense_A247P,Missense_A302P,Missense_A237P exm311440 3 48508851 [A/G] NM_033629,NM_016381,NM_007248 TREX1,TREX1,TREX1 EXON Missense_E266G,Missense_E321G,Missense_E256G exm311457 3 48510583 [T/C] NM_016479,NM_001272068,NM_001272066,NM_001272065,NM_001272083,NM_001272082,NM_001272067 SHISA5,SHISA5,SHISA5,SHISA5,SHISA5,SHISA5,SHISA5 EXON Missense_G216R,Missense_G185R,Missense_G185R,Missense_G209R,Silent,Missense_G113R,Missense_G185R exm311463 3 48510831 [T/C] NM_016479,NM_001272068,NM_001272066,NM_001272065,NM_001272083,NM_001272082,NM_001272067 SHISA5,SHISA5,SHISA5,SHISA5,SHISA5,SHISA5,SHISA5 EXON Missense_Y191C,Missense_Y160C,Missense_Y160C,Missense_Y184C,Missense_Y88C,Missense_Y88C,Missense_Y160C exm2054133 3 48510861 [A/G] NM_016479,NM_001272068,NM_001272066,NM_001272065,NM_001272083,NM_001272082,NM_001272067 SHISA5,SHISA5,SHISA5,SHISA5,SHISA5,SHISA5,SHISA5 EXON Missense_P181L,Missense_P150L,Missense_P150L,Missense_P174L,Missense_P78L,Missense_P78L,Missense_P150L exm311468 3 48510906 [A/G] NM_016479,NM_001272068,NM_001272066,NM_001272065,NM_001272083,NM_001272082,NM_001272067 SHISA5,SHISA5,SHISA5,SHISA5,SHISA5,SHISA5,SHISA5 EXON Missense_P166L,Missense_P135L,Missense_P135L,Missense_P159L,Missense_P63L,Missense_P63L,Missense_P135L exm311471 3 48510919 [T/G] NM_016479,NM_001272068,NM_001272066,NM_001272065,NM_001272083,NM_001272082,NM_001272067 SHISA5,SHISA5,SHISA5,SHISA5,SHISA5,SHISA5,SHISA5 EXON Missense_P162T,Missense_P131T,Missense_P131T,Missense_P155T,Missense_P59T,Missense_P59T,Missense_P131T exm311475 3 48510971 [T/C] NM_016479,NM_001272068,NM_001272066,NM_001272065,NM_001272083,NM_001272082,NM_001272067 SHISA5,SHISA5,SHISA5,SHISA5,SHISA5,SHISA5,SHISA5 EXON Synonymous_P144P,Synonymous_P113P,Synonymous_P113P,Synonymous_P137P,Synonymous_P41P,Synonymous_P41P,Synonymous_P113P exm2054134 3 48510972 [A/G] NM_016479,NM_001272068,NM_001272066,NM_001272065,NM_001272083,NM_001272082,NM_001272067 SHISA5,SHISA5,SHISA5,SHISA5,SHISA5,SHISA5,SHISA5 EXON Missense_P144L,Missense_P113L,Missense_P113L,Missense_P137L,Missense_P41L,Missense_P41L,Missense_P113L exm311488 3 48520628 [T/G] NM_016479,NM_001272068,NM_001272066,NM_001272065,NM_001272067 SHISA5,SHISA5,SHISA5,SHISA5,SHISA5 EXON Nonsense_S91X,Nonsense_S60X,Nonsense_S60X,Nonsense_S84X,Nonsense_S60X exm311489 3 48520646 [A/G] NM_016479,NM_001272068,NM_001272066,NM_001272065,NM_001272067 SHISA5,SHISA5,SHISA5,SHISA5,SHISA5 EXON Missense_P85L,Missense_P54L,Missense_P54L,Missense_P78L,Missense_P54L exm311491 3 48520666 [A/G] NM_016479,NM_001272068,NM_001272066,NM_001272065,NM_001272067 SHISA5,SHISA5,SHISA5,SHISA5,SHISA5 EXON Synonymous_S78S,Synonymous_S47S,Synonymous_S47S,Synonymous_S71S,Synonymous_S47S exm2054148 3 48538699 [T/C] NM_016479,NM_001272068,NM_001272066,NM_001272065,NM_001272067 SHISA5,SHISA5,SHISA5,SHISA5,SHISA5 EXON Missense_R35H,Missense_R4H,Missense_R4H,Missense_R35H,Missense_R4H exm311497 3 48538700 [A/G] NM_016479,NM_001272068,NM_001272066,NM_001272065,NM_001272067 SHISA5,SHISA5,SHISA5,SHISA5,SHISA5 EXON Missense_R35C,Missense_R4C,Missense_R4C,Missense_R35C,Missense_R4C exm311505 3 48559436 [A/G] NM_004567 PFKFB4 EXON Missense_H445Y exm2054159 3 48561003 [A/G] NM_004567 PFKFB4 EXON Missense_H418Y exm311512 3 48561146 [T/C] NM_004567 PFKFB4 EXON Missense_D404N exm311530 3 48573700 [A/G] NM_004567 PFKFB4 EXON Missense_R277W exm311539 3 48573820 [A/G] NM_004567 PFKFB4 EXON Missense_R237C exm311563 3 48581056 [T/C] NM_004567 PFKFB4 EXON Missense_R112H exm311567 3 48587361 [C/G] NM_004567 PFKFB4 EXON Missense_V83L exm311568 3 48587370 [A/G] NM_004567 PFKFB4 EXON Missense_R80W exm311583 3 48600230 [T/C] NM_033199 UCN2 EXON Missense_G110S exm311591 3 48600349 [A/G] NM_033199 UCN2 EXON Missense_S70L exm311597 3 48600437 [A/G] NM_033199 UCN2 EXON Nonsense_R41X exm311604 3 48602243 [A/G] NM_000094 COL7A1 EXON Missense_P2931S exm311605 3 48602254 [T/C] NM_000094 COL7A1 EXON Missense_R2927H exm311610 3 48602350 [T/C] NM_000094 COL7A1 EXON Missense_R2895Q exm2054214 3 48602623 [A/G] NM_000094 COL7A1 EXON Missense_P2847S exm311621 3 48602866 [T/C] NM_000094 COL7A1 EXON Missense_R2835H exm311629 3 48603081 [T/C] NM_000094 COL7A1 EXON Missense_A2810T exm311634 3 48603723 [T/C] NM_000094 COL7A1 EXON Missense_R2795H exm311635 3 48603736 [A/G] NM_000094 COL7A1 EXON Missense_R2791W exm311647 3 48604157 [A/G] NM_000094 COL7A1 EXON Missense_P2747L exm2239711 3 48604575 [T/C] NM_000094 COL7A1 EXON Missense_E2699K exm311673 3 48605534 [A/G] NM_000094 COL7A1 EXON Missense_R2622W exm311674 3 48605573 [T/C] NM_000094 COL7A1 EXON Missense_I2609V exm311676 3 48605933 [A/G] NM_000094 COL7A1 EXON Missense_P2598L exm2239713 3 48608072 [T/C] NM_000094 COL7A1 EXON Synonymous_V2448V exm311704 3 48608130 [A/G] NM_000094 COL7A1 EXON Missense_P2429L exm311707 3 48608349 [A/G] NM_000094 COL7A1 EXON Missense_P2406L exm311712 3 48608574 [T/A] NM_000094 COL7A1 EXON Missense_V2375D exm2239715 3 48609588 [T/C] NM_000094 COL7A1 EXON Missense_R2332Q exm311754 3 48610968 [A/G] NM_000094 COL7A1 EXON Missense_P2199L exm311756 3 48611124 [A/G] NM_000094 COL7A1 EXON Missense_P2191L exm311761 3 48611696 [A/G] NM_000094 COL7A1 EXON Missense_P2167L exm311794 3 48613082 [T/C] NM_000094 COL7A1 EXON Missense_E1986K exm311795 3 48613087 [A/G] NM_000094 COL7A1 EXON Missense_S1984L exm311796 3 48613108 [A/C] NM_000094 COL7A1 EXON Missense_R1977L exm2275666 3 48613112 [A/G] NM_000094 COL7A1 EXON Missense_R1976W exm311804 3 48613683 [A/G] NM_000094 COL7A1 EXON Missense_P1940L exm311814 3 48613965 [A/G] NM_000094 COL7A1 EXON Missense_T1909M exm311824 3 48614331 [T/C] NM_000094 COL7A1 EXON Missense_A1864T exm311829 3 48615794 [T/C] NM_000094 COL7A1 EXON Missense_K1831R exm311834 3 48615914 [C/G] NM_000094 COL7A1 EXON Missense_P1820R exm2275667 3 48616675 [A/G] NM_000094 COL7A1 EXON Synonymous_S1781S exm311847 3 48617085 [T/C] NM_000094 COL7A1 EXON Missense_R1724H exm311859 3 48617744 [A/G] NM_000094 COL7A1 EXON Missense_R1696C exm311860 3 48617772 [A/G] NM_000094 COL7A1 EXON Synonymous_S1686S exm2256054 3 48617772 [A/G] NM_000094 COL7A1 EXON Synonymous_S1686S exm311865 3 48618079 [T/G] NM_000094 COL7A1 EXON Missense_P1663T exm311868 3 48618317 [A/G] NM_000094 COL7A1 EXON Missense_R1660W exm311890 3 48619177 [T/C] NM_000094 COL7A1 EXON Missense_A1562T exm311893 3 48619376 [G/C] NM_000094 COL7A1 EXON Missense_G1546R exm311896 3 48619778 [T/C] NM_000094 COL7A1 EXON Missense_R1538H exm311897 3 48619779 [A/G] NM_000094 COL7A1 EXON Missense_R1538C exm311901 3 48619925 [A/G] NM_000094 COL7A1 EXON Missense_R1529C exm311913 3 48620475 [A/G] NM_000094 COL7A1 EXON Missense_R1497C exm311924 3 48621017 [A/G] NM_000094 COL7A1 EXON Missense_P1458L exm311929 3 48621180 [T/C] NM_000094 COL7A1 EXON Missense_V1438I exm311936 3 48621482 [T/C] NM_000094 COL7A1 EXON Missense_D1404N exm311946 3 48621919 [A/G] NM_000094 COL7A1 EXON Missense_S1373L exm311955 3 48622168 [A/G] NM_000094 COL7A1 EXON Missense_P1349L exm311959 3 48622343 [T/C] NM_000094 COL7A1 EXON Synonymous_P1337P exm311962 3 48622363 [A/G] NM_000094 COL7A1 EXON Missense_P1331S exm311970 3 48622995 [T/C] NM_000094 COL7A1 EXON Missense_E1297K exm311976 3 48623124 [A/G] NM_000094 COL7A1 EXON Missense_P1277L exm311978 3 48623145 [A/G] NM_000094 COL7A1 EXON Missense_P1270L exm311980 3 48623264 [A/G] NM_000094 COL7A1 EXON Missense_M1262T exm311992 3 48623625 [T/C] NM_000094 COL7A1 EXON Missense_R1202H exm311998 3 48623834 [T/C] NM_000094 COL7A1 EXON Missense_M1161V exm312001 3 48623854 [T/C] NM_000094 COL7A1 EXON Missense_R1154H exm312006 3 48624040 [T/C] NM_000094 COL7A1 EXON Missense_R1120K exm312008 3 48624056 [G/C] NM_000094 COL7A1 EXON Missense_G1115R exm312013 3 48624449 [A/G] NM_000094 COL7A1 EXON Missense_R1078C exm312021 3 48624655 [T/C] NM_000094 COL7A1 EXON Missense_R1036Q exm312037 3 48625267 [A/G] NM_000094 COL7A1 EXON Missense_P939L exm312040 3 48625291 [T/C] NM_000094 COL7A1 EXON Missense_R931H exm312041 3 48625292 [A/G] NM_000094 COL7A1 EXON Missense_R931C exm312054 3 48625836 [T/C] NM_000094 COL7A1 EXON Synonymous_P863P exm312062 3 48626213 [T/C] NM_000094 COL7A1 EXON Missense_M817V exm312069 3 48626372 [T/C] NM_000094 COL7A1 EXON Missense_V791I exm312078 3 48626832 [T/C] NM_000094 COL7A1 EXON Missense_E748K exm312080 3 48627033 [A/G] NM_000094 COL7A1 EXON Synonymous_H723H exm312081 3 48627056 [T/C] NM_000094 COL7A1 EXON Missense_R716G exm312103 3 48627786 [A/G] NM_000094 COL7A1 EXON Missense_P637L exm312104 3 48627789 [A/C] NM_000094 COL7A1 EXON Missense_G636V exm312106 3 48627916 [A/G] NM_000094 COL7A1 EXON Missense_R628W exm312107 3 48627933 [T/G] NM_000094 COL7A1 EXON Missense_P622H exm2256055 3 48627962 [A/C] NM_000094 COL7A1 EXON Synonymous_T612T exm312113 3 48628014 [A/G] NM_000094 COL7A1 EXON Missense_P595L exm2054419 3 48628109 [A/G] NM_000094 COL7A1 EXON Missense_R593W exm312115 3 48628112 [A/G] NM_000094 COL7A1 EXON Missense_R592C exm312125 3 48628920 [T/C] NM_000094 COL7A1 EXON Missense_R538H exm312126 3 48628929 [T/G] NM_000094 COL7A1 EXON Missense_T535N exm312131 3 48629118 [T/C] NM_000094 COL7A1 EXON Missense_V499M exm312145 3 48629340 [A/G] NM_000094 COL7A1 EXON Missense_R450C exm312147 3 48629364 [A/G] NM_000094 COL7A1 EXON Missense_R442C exm312149 3 48629420 [A/G] NM_000094 COL7A1 EXON Missense_P423L exm312176 3 48630056 [A/G] NM_000094 COL7A1 EXON Missense_I308T exm312178 3 48630086 [T/C] NM_000094 COL7A1 EXON Missense_R298Q exm312179 3 48630102 [A/G] NM_000094 COL7A1 EXON Missense_R293W exm312184 3 48630252 [A/G] NM_000094 COL7A1 EXON Missense_P268S exm2054442 3 48630293 [A/G] NM_000094 COL7A1 EXON Missense_A254V exm312190 3 48630564 [A/G] NM_000094 COL7A1 EXON Missense_T218I exm312192 3 48630625 [T/C] NM_000094 COL7A1 EXON Missense_V198I exm312208 3 48631118 [T/C] NM_000094 COL7A1 EXON Missense_G93D exm312216 3 48631939 [A/G] NM_000094 COL7A1 EXON Missense_L43P exm312220 3 48631978 [A/G] NM_000094 COL7A1 EXON Missense_T30I exm312224 3 48632580 [C/G] NM_000094 COL7A1 EXON Missense_L5V exm312238 3 48637071 [A/T] NM_003365 UQCRC1 EXON Missense_Y459N exm312242 3 48637143 [T/C] NM_003365 UQCRC1 EXON Missense_E435K exm312265 3 48638440 [T/C] NM_003365 UQCRC1 EXON Missense_G312S exm2054468 3 48638451 [T/C] NM_003365 UQCRC1 EXON Missense_N308S exm312267 3 48638472 [T/C] NM_003365 UQCRC1 EXON Missense_N301S exm312277 3 48638801 [T/C] NM_003365 UQCRC1 EXON Missense_R269H exm312278 3 48638807 [C/G] NM_003365 UQCRC1 EXON Missense_P267R exm312286 3 48641060 [C/G] NM_003365 UQCRC1 EXON Missense_D215H exm312300 3 48643235 [A/C] NM_003365 UQCRC1 EXON Missense_A89S exm312303 3 48646654 [T/C] NM_003365 UQCRC1 EXON Missense_S51G exm312319 3 48658315 [T/C] NM_001008269 TMEM89 EXON Missense_R147Q exm312322 3 48658351 [T/C] NM_001008269 TMEM89 EXON Missense_H135R exm312323 3 48658367 [T/C] NM_001008269 TMEM89 EXON Missense_D130N exm312330 3 48658418 [A/G] NM_001008269 TMEM89 EXON Missense_R113W exm312333 3 48658439 [A/G] NM_001008269 TMEM89 EXON Missense_P106S exm312339 3 48658918 [T/C] NM_001008269 TMEM89 EXON Missense_R91H exm312340 3 48658921 [T/C] NM_001008269 TMEM89 EXON Missense_R90Q exm312341 3 48658922 [A/G] NM_001008269 TMEM89 EXON Missense_R90W exm312343 3 48658925 [A/G] NM_001008269 TMEM89 EXON Missense_R89W exm312346 3 48658942 [T/C] NM_001008269 TMEM89 EXON Missense_R83H exm2054494 3 48658943 [A/G] NM_001008269 TMEM89 EXON Missense_R83C exm312347 3 48658947 [G/C] NM_001008269 TMEM89 EXON Missense_I81M exm312351 3 48659009 [T/G] NM_001008269 TMEM89 EXON Missense_P61T exm312355 3 48659119 [A/G] NM_001008269 TMEM89 EXON Missense_S24L exm312358 3 48659182 [T/C] NM_001008269 TMEM89 EXON Missense_H3R exm312372 3 48664473 [T/C] NM_022911,NM_001040454,NM_134426,NM_134263 SLC26A6,SLC26A6,SLC26A6,SLC26A6 EXON Missense_D637N,Missense_D616N,Missense_D618N,Missense_D636N exm312383 3 48665917 [T/C] NM_022911,NM_001040454,NM_134426,NM_134263 SLC26A6,SLC26A6,SLC26A6,SLC26A6 EXON Missense_E584K,Missense_E563K,Missense_E584K,Missense_E584K exm312392 3 48666132 [C/G] NM_022911,NM_001040454,NM_134426,NM_134263 SLC26A6,SLC26A6,SLC26A6,SLC26A6 EXON Missense_G539R,Missense_G518R,Missense_G539R,Missense_G539R exm312393 3 48666134 [G/C] NM_022911,NM_001040454,NM_134426,NM_134263 SLC26A6,SLC26A6,SLC26A6,SLC26A6 EXON Missense_R538P,Missense_R517P,Missense_R538P,Missense_R538P exm312396 3 48667073 [A/G] NM_022911,NM_001040454,NM_134426,NM_134263 SLC26A6,SLC26A6,SLC26A6,SLC26A6 Silent,Silent,Silent,Silent exm312408 3 48667506 [A/G] NM_022911,NM_001040454,NM_134426,NM_134263 SLC26A6,SLC26A6,SLC26A6,SLC26A6 EXON Missense_R471W,Missense_R450W,Missense_R471W,Missense_R471W exm312431 3 48668685 [T/C] NM_022911,NM_001040454,NM_134426,NM_134263 SLC26A6,SLC26A6,SLC26A6,SLC26A6 EXON Missense_V320I,Missense_V299I,Missense_V320I,Missense_V320I exm312446 3 48669447 [T/C] NM_022911,NM_001040454,NM_134426,NM_134263 SLC26A6,SLC26A6,SLC26A6,SLC26A6 EXON Missense_V206M,Missense_V185M,Missense_V206M,Missense_V206M exm312455 3 48669724 [T/C] NM_022911,NM_001040454,NM_134426,NM_134263 SLC26A6,SLC26A6,SLC26A6,SLC26A6 EXON Missense_R180Q,Missense_R159Q,Missense_R180Q,Missense_R180Q exm312456 3 48669725 [A/G] NM_022911,NM_001040454,NM_134426,NM_134263 SLC26A6,SLC26A6,SLC26A6,SLC26A6 EXON Missense_R180W,Missense_R159W,Missense_R180W,Missense_R180W exm2273923 3 48669762 [A/G] NM_022911,NM_001040454,NM_134426,NM_134263 SLC26A6,SLC26A6,SLC26A6,SLC26A6 EXON Synonymous_N167N,Synonymous_N146N,Synonymous_N167N,Synonymous_N167N exm2054535 3 48669776 [A/G] NM_022911,NM_001040454,NM_134426,NM_134263 SLC26A6,SLC26A6,SLC26A6,SLC26A6 EXON Missense_P163S,Missense_P142S,Missense_P163S,Missense_P163S exm2256056 3 48670483 [A/G] NM_022911,NM_001040454,NM_134426,NM_134263 SLC26A6,SLC26A6,SLC26A6,SLC26A6 EXON Synonymous_P119P,Synonymous_P98P,Synonymous_P119P,Synonymous_P119P exm312472 3 48670746 [T/C] NM_022911,NM_001040454,NM_134426,NM_134263 SLC26A6,SLC26A6,SLC26A6,SLC26A6 EXON Missense_R87H,Missense_R66H,Missense_R87H,Missense_R87H exm312473 3 48670771 [T/C] NM_022911,NM_001040454,NM_134426,NM_134263 SLC26A6,SLC26A6,SLC26A6,SLC26A6 EXON Missense_V79I,Missense_V58I,Missense_V79I,Missense_V79I exm312475 3 48670819 [A/G] NM_022911,NM_001040454,NM_134426,NM_134263 SLC26A6,SLC26A6,SLC26A6,SLC26A6 EXON Missense_S63P,Missense_S42P,Missense_S63P,Missense_S63P exm312481 3 48671018 [T/C] NM_022911,NM_001040454,NM_134426,NM_134263 SLC26A6,SLC26A6,SLC26A6,SLC26A6 EXON Missense_R25Q,Missense_R4Q,Missense_R25Q,Missense_R25Q exm312482 3 48671025 [C/G] NM_022911,NM_001040454,NM_134426,NM_134263 SLC26A6,SLC26A6,SLC26A6,SLC26A6 EXON Missense_D23H,Missense_D2H,Missense_D23H,Missense_D23H exm312491 3 48677114 [C/G] NM_001407 CELSR3 EXON Missense_D3302H exm312493 3 48677153 [A/G] NM_001407 CELSR3 EXON Missense_R3289C exm312496 3 48677191 [A/G] NM_001407 CELSR3 EXON Missense_P3276L exm312501 3 48677389 [T/C] NM_001407 CELSR3 EXON Missense_R3210Q exm312502 3 48677416 [T/C] NM_001407 CELSR3 EXON Missense_R3201Q exm312503 3 48677417 [A/G] NM_001407 CELSR3 EXON Missense_R3201W exm312505 3 48677452 [T/C] NM_001407 CELSR3 EXON Missense_R3189Q exm2054554 3 48677540 [A/G] NM_001407 CELSR3 EXON Missense_R3160C exm312513 3 48677569 [T/C] NM_001407 CELSR3 EXON Missense_R3150Q exm312515 3 48677603 [T/C] NM_001407 CELSR3 EXON Missense_G3139R exm312525 3 48677848 [T/C] NM_001407 CELSR3 EXON Missense_G3057D exm312533 3 48677920 [T/C] NM_001407 CELSR3 EXON Missense_R3033H exm312541 3 48678864 [T/C] NM_001407 CELSR3 EXON Missense_R2973H exm312543 3 48678897 [C/G] NM_001407 CELSR3 EXON Missense_P2962R exm312547 3 48679352 [A/G] NM_001407 CELSR3 EXON Missense_T2919M exm312553 3 48679862 [T/C] NM_001407 CELSR3 EXON Missense_H2865R exm312560 3 48680265 [T/C] NM_001407 CELSR3 EXON Missense_R2820H exm312563 3 48680310 [A/C] NM_001407 CELSR3 EXON Missense_G2805V exm312566 3 48680431 [A/G] NM_001407 CELSR3 EXON Missense_A2792V exm312568 3 48680470 [T/C] NM_001407 CELSR3 EXON Missense_R2779Q exm312582 3 48682486 [T/C] NM_001407 CELSR3 EXON Missense_V2652I exm312583 3 48682503 [T/C] NM_001407 CELSR3 EXON Missense_H2646R exm312589 3 48682525 [A/G] NM_001407 CELSR3 EXON Missense_R2639C exm312592 3 48682550 [T/C] NM_001407 CELSR3 EXON Missense_M2630I exm312609 3 48683075 [T/C] NM_001407 CELSR3 EXON Missense_E2533G exm312610 3 48683179 [T/C] NM_001407 CELSR3 EXON Missense_R2529H exm312612 3 48683218 [T/C] NM_001407 CELSR3 EXON Missense_R2516Q exm312613 3 48683228 [A/G] NM_001407 CELSR3 EXON Missense_R2513C exm312614 3 48683237 [T/C] NM_001407 CELSR3 EXON Missense_A2510T exm312626 3 48683635 [T/C] NM_001407 CELSR3 EXON Missense_G2451R exm312629 3 48683674 [T/C] NM_001407 CELSR3 EXON Missense_V2438I exm2239729 3 48684353 [T/C] NM_001407 CELSR3 EXON Missense_T2380A exm312637 3 48685379 [A/G] NM_001407 CELSR3 EXON Missense_R2342C exm312642 3 48685722 [A/G] NM_001407 CELSR3 EXON Missense_M2317T exm312648 3 48685836 [A/G] NM_001407 CELSR3 EXON Missense_A2279V exm312649 3 48685879 [T/C] NM_001407 CELSR3 EXON Missense_G2265S exm312652 3 48686234 [T/C] NM_001407 CELSR3 EXON Missense_R2232H exm312654 3 48686298 [A/G] NM_001407 CELSR3 EXON Missense_R2211W exm312667 3 48688346 [T/C] NM_001407 CELSR3 EXON Missense_V2117M exm312677 3 48688833 [T/C] NM_001407 CELSR3 EXON Missense_D2049N exm312698 3 48690482 [A/G] NM_001407 CELSR3 EXON Missense_R1863W exm312703 3 48690599 [T/C] NM_001407 CELSR3 EXON Missense_V1824M exm312705 3 48691153 [C/G] NM_001407 CELSR3 EXON Missense_V1783L exm312708 3 48691197 [T/C] NM_001407 CELSR3 EXON Missense_R1768H exm312709 3 48691316 [T/C] NM_001407 CELSR3 EXON Missense_Q1758R exm312713 3 48691376 [A/G] NM_001407 CELSR3 EXON Missense_S1738L exm2054631 3 48692550 [A/C] NM_001407 CELSR3 EXON Missense_V1639L exm312726 3 48692595 [T/C] NM_001407 CELSR3 EXON Missense_K1624E exm312748 3 48694332 [A/C] NM_001407 CELSR3 EXON Missense_A1400S exm2054640 3 48694512 [T/C] NM_001407 CELSR3 EXON Missense_A1340T exm312755 3 48694524 [A/G] NM_001407 CELSR3 EXON Missense_R1336C exm312758 3 48694616 [A/G] NM_001407 CELSR3 EXON Missense_T1305M exm312763 3 48694676 [T/C] NM_001407 CELSR3 EXON Missense_E1285G exm312776 3 48696521 [A/G] NM_001407 CELSR3 EXON Missense_R1183C exm312777 3 48696595 [A/C] NM_001407 CELSR3 EXON Missense_R1158L exm312796 3 48697148 [A/C] NM_001407 CELSR3 EXON Missense_A974S exm2277260 3 48697322 [G/C] NM_001407 CELSR3 EXON Missense_Q916E exm312803 3 48697329 [A/C] NM_001407 CELSR3 EXON Missense_I913M exm312809 3 48697488 [A/C] NM_001407 CELSR3 EXON Missense_S860R exm312815 3 48697595 [A/G] NM_001407 CELSR3 EXON Missense_R825C exm312817 3 48697654 [G/C] NM_001407 CELSR3 EXON Missense_S805T exm2054655 3 48697811 [A/G] NM_001407 CELSR3 EXON Missense_R753W exm312831 3 48698107 [A/G] NM_001407 CELSR3 EXON Missense_T654M exm312857 3 48698930 [A/G] NM_001407 CELSR3 EXON Missense_P380S exm312858 3 48699007 [A/G] NM_001407 CELSR3 EXON Missense_A354V exm312874 3 48699332 [A/C] NM_001407 CELSR3 EXON Missense_D246Y exm2239735 3 48699599 [C/G] NM_001407 CELSR3 EXON Missense_A157P exm312887 3 48699685 [A/C] NM_001407 CELSR3 EXON Missense_G128V exm312907 3 48712110 [T/C] NM_016453,NM_184231 NCKIPSD,NCKIPSD EXON Missense_R679Q,Missense_R672Q exm312912 3 48712174 [T/C] NM_016453,NM_184231 NCKIPSD,NCKIPSD EXON Missense_M658V,Missense_M651V exm312918 3 48716065 [A/G] NM_016453,NM_184231 NCKIPSD,NCKIPSD EXON Missense_H633Y,Missense_H626Y exm312929 3 48716130 [C/G] NM_016453,NM_184231 NCKIPSD,NCKIPSD EXON Missense_P611R,Missense_P604R exm312932 3 48716148 [T/C] NM_016453,NM_184231 NCKIPSD,NCKIPSD EXON Missense_K605R,Missense_K598R exm312934 3 48716361 [T/C] NM_016453,NM_184231 NCKIPSD,NCKIPSD EXON Missense_A581T,Missense_A574T exm312938 3 48716536 [A/G] NM_016453,NM_184231 NCKIPSD,NCKIPSD EXON Missense_P551S,Missense_P544S exm2273925 3 48717065 [T/G] NM_016453,NM_184231 NCKIPSD,NCKIPSD EXON Missense_L478I,Missense_L471I exm2256057 3 48717066 [T/C] NM_016453,NM_184231 NCKIPSD,NCKIPSD EXON Synonymous_T477T,Synonymous_T470T exm312959 3 48717619 [T/C] NM_016453,NM_184231 NCKIPSD,NCKIPSD EXON Missense_Q379R,Missense_Q372R exm312970 3 48718827 [T/C] NM_016453,NM_184231 NCKIPSD,NCKIPSD EXON Missense_E329K,Missense_E322K exm312973 3 48718931 [A/C] NM_016453,NM_184231 NCKIPSD,NCKIPSD EXON Missense_S294I,Missense_S287I exm312987 3 48719504 [T/C] NM_016453,NM_184231 NCKIPSD,NCKIPSD EXON Missense_R191H,Missense_R184H exm312991 3 48719549 [T/C] NM_016453,NM_184231 NCKIPSD,NCKIPSD EXON Missense_R176Q,Missense_R169Q exm312996 3 48719798 [T/C] NM_016453,NM_184231 NCKIPSD,NCKIPSD EXON Missense_D157N,Missense_D157N exm312999 3 48719858 [A/C] NM_016453,NM_184231 NCKIPSD,NCKIPSD EXON Missense_V137L,Missense_V137L exm313004 3 48719951 [A/G] NM_016453,NM_184231 NCKIPSD,NCKIPSD EXON Missense_R106C,Missense_R106C exm313018 3 48720412 [A/G] NM_016453,NM_184231 NCKIPSD,NCKIPSD EXON Missense_R69W,Missense_R69W exm313041 3 48726170 [T/G] NM_001005909,NM_016291 IP6K2,IP6K2 EXON Missense_N273H,Missense_N273H exm313050 3 48728819 [C/G] NM_001005909,NM_016291 IP6K2,IP6K2 EXON Missense_H175Q,Missense_H175Q exm313067 3 48732363 [T/C] NM_001005909,NM_016291,NR_027437,NR_027438,NM_001005910,NM_001190316,NM_001190317,NM_001146179,NM_001146178,NM_001005911 IP6K2,IP6K2,IP6K2,IP6K2,IP6K2,IP6K2,IP6K2,IP6K2,IP6K2,IP6K2 EXON Silent,Silent,Silent,Silent,Silent,Missense_H176R,Missense_H179R,Silent,Silent,Silent exm313069 3 48732480 [T/C] NM_001005909,NM_016291,NR_027437,NR_027438,NM_001005910,NM_001190316,NM_001190317,NM_001146179,NM_001146178,NM_001005911 IP6K2,IP6K2,IP6K2,IP6K2,IP6K2,IP6K2,IP6K2,IP6K2,IP6K2,IP6K2 EXON Silent,Silent,Silent,Silent,Silent,Missense_D137G,Missense_D140G,Silent,Silent,Silent exm313071 3 48732618 [T/C] NM_001005909,NM_016291,NR_027437,NR_027438,NM_001005910,NM_001190316,NM_001190317,NM_001146179,NM_001146178,NM_001005911 IP6K2,IP6K2,IP6K2,IP6K2,IP6K2,IP6K2,IP6K2,IP6K2,IP6K2,IP6K2 EXON Missense_N36S,Missense_N36S,Silent,Silent,Missense_N36S,Missense_N91S,Missense_N94S,Missense_N36S,Missense_N36S,Missense_N36S exm313073 3 48732676 [T/C] NM_001005909,NM_016291,NR_027437,NR_027438,NM_001005910,NM_001190316,NM_001190317,NM_001146179,NM_001146178,NM_001005911 IP6K2,IP6K2,IP6K2,IP6K2,IP6K2,IP6K2,IP6K2,IP6K2,IP6K2,IP6K2 EXON Missense_V17I,Missense_V17I,Silent,Silent,Missense_V17I,Missense_V72I,Missense_V75I,Missense_V17I,Missense_V17I,Missense_V17I exm313078 3 48732748 [A/G] NM_001005909,NM_016291,NR_027437,NR_027438,NM_001005910,NM_001190316,NM_001190317,NM_001146179,NM_001146178,NM_001005911 IP6K2,IP6K2,IP6K2,IP6K2,IP6K2,IP6K2,IP6K2,IP6K2,IP6K2,IP6K2 EXON Silent,Silent,Silent,Silent,Silent,Missense_L48F,Missense_L51F,Silent,Silent,Silent exm313079 3 48732846 [A/G] NM_001005909,NM_016291,NR_027437,NR_027438,NM_001005910,NM_001190316,NM_001190317,NM_001146179,NM_001146178,NM_001005911 IP6K2,IP6K2,IP6K2,IP6K2,IP6K2,IP6K2,IP6K2,IP6K2,IP6K2,IP6K2 EXON Silent,Silent,Silent,Silent,Silent,Missense_S15F,Missense_S18F,Silent,Silent,Silent exm313084 3 48789044 [T/C] NM_004157 PRKAR2A EXON Missense_V397M exm2256058 3 48789102 [A/G] NM_004157 PRKAR2A EXON Synonymous_I377I exm2054733 3 48789660 [T/C] NM_004157 PRKAR2A EXON Missense_N344D exm313097 3 48789705 [A/G] NM_004157 PRKAR2A EXON Missense_R329C exm313104 3 48802465 [T/C] NM_004157 PRKAR2A EXON Missense_Y282C exm313109 3 48810437 [A/G] NM_004157 PRKAR2A EXON Missense_P216L exm2054738 3 48810500 [T/C] NM_004157 PRKAR2A EXON Missense_R195H exm313134 3 48896010 [T/C] NM_000387 SLC25A20 EXON Missense_R258Q exm313137 3 48896063 [T/C] NM_000387 SLC25A20 EXON Synonymous_A240A exm313147 3 48916844 [T/C] NM_000387 SLC25A20 EXON Missense_V122I exm313148 3 48916850 [A/G] NM_000387 SLC25A20 EXON Missense_S120P exm313149 3 48916873 [T/G] NM_000387 SLC25A20 EXON Missense_Q112P exm313154 3 48921530 [G/C] NM_000387 SLC25A20 EXON Missense_A76P exm313171 3 48955795 [A/G] NM_001123040 ARIH2OS EXON Missense_L263S exm313172 3 48955822 [A/C] NM_001123040 ARIH2OS EXON Missense_L254R exm313186 3 48956125 [G/C] NM_001123040 ARIH2OS EXON Missense_A153G exm313195 3 48956257 [A/G] NM_001123040 ARIH2OS EXON Missense_V109A exm313211 3 48965078 [A/C] NM_006321 ARIH2 EXON Missense_E29D exm313216 3 48965175 [A/T] NM_006321 ARIH2 EXON Missense_T62S exm313229 3 49004687 [A/G] NM_006321 ARIH2 EXON Missense_V173I exm313243 3 49012411 [T/C] NM_006321 ARIH2 EXON Synonymous_H320H exm313270 3 49039018 [A/G] NM_177939,NM_177938 P4HTM,P4HTM EXON Missense_R195Q,Missense_R195Q exm313278 3 49039984 [A/G] NM_177939,NM_177938 P4HTM,P4HTM EXON Missense_I227V,Missense_I227V exm313280 3 49040002 [A/G] NM_177939,NM_177938 P4HTM,P4HTM EXON Missense_A233T,Missense_A233T exm313285 3 49041612 [G/C] NM_177939,NM_177938 P4HTM,P4HTM EXON Missense_S269T,Missense_S269T exm313286 3 49041623 [T/C] NM_177939,NM_177938 P4HTM,P4HTM EXON Missense_R273W,Missense_R273W exm313296 3 49042479 [A/G] NM_177939,NM_177938 P4HTM,P4HTM EXON Missense_R358H,Missense_R358Q exm313300 3 49042562 [A/G] NM_177939,NM_177938 P4HTM,P4HTM EXON Silent,Missense_V386M exm313308 3 49043292 [A/G] NM_177939,NM_177938 P4HTM,P4HTM EXON Missense_D386N,Missense_D447N exm313315 3 49044290 [T/C] NM_177939,NM_177938 P4HTM,P4HTM EXON Missense_P487S,Missense_P548S exm313326 3 49044932 [T/G] NM_018031 WDR6 EXON Missense_G53V exm2054824 3 49049391 [A/G] NM_018031 WDR6 EXON Missense_D172N exm2239749 3 49049636 [C/G] NM_018031 WDR6 EXON Missense_L253F exm313366 3 49049934 [T/C] NM_018031 WDR6 EXON Missense_R353W exm313369 3 49049980 [T/C] NM_018031 WDR6 EXON Missense_S368L exm313371 3 49050001 [A/G] NM_018031 WDR6 EXON Missense_R375H exm2054830 3 49050133 [T/A] NM_018031 WDR6 EXON Missense_H419L exm313378 3 49050231 [A/G] NM_018031 WDR6 EXON Missense_I452V exm313380 3 49050304 [A/G] NM_018031 WDR6 EXON Missense_R476H exm2239750 3 49050306 [A/G] NM_018031 WDR6 EXON Missense_G477S exm2054834 3 49050415 [A/G] NM_018031 WDR6 EXON Missense_R513Q exm313391 3 49050468 [C/G] NM_018031 WDR6 EXON Missense_P531A exm313394 3 49050498 [T/C] NM_018031 WDR6 EXON Missense_R541C exm313395 3 49050499 [A/G] NM_018031 WDR6 EXON Missense_R541H exm313396 3 49050501 [T/C] NM_018031 WDR6 EXON Missense_R542W exm313402 3 49050646 [T/C] NM_018031 WDR6 EXON Missense_V590A exm313414 3 49050918 [A/G] NM_018031 WDR6 EXON Missense_V681I exm313417 3 49050967 [T/C] NM_018031 WDR6 EXON Missense_A697V exm313422 3 49051059 [A/G] NM_018031 WDR6 EXON Missense_G728S exm2054850 3 49051842 [A/G] NM_018031 WDR6 EXON Missense_R928Q exm313458 3 49052273 [T/C] NM_018031 WDR6 EXON Missense_S1003F exm313467 3 49052422 [A/G] NM_018031 WDR6 EXON Missense_V1053M exm313471 3 49052453 [A/G] NM_018031 WDR6 EXON Missense_R1063H exm313472 3 49052510 [A/C] NM_018031 WDR6 EXON Missense_K1082T exm313475 3 49052594 [T/C] NM_018031 WDR6 EXON Missense_F1110S exm313478 3 49052598 [T/G] NM_018031 WDR6 EXON Missense_M1111I exm313508 3 49053918 [T/C] NM_001009996,NM_001276405,NM_018114 DALRD3,DALRD3,DALRD3 EXON Missense_V364I,Missense_V364I,Missense_V197I exm313513 3 49054102 [A/G] NM_001009996,NM_001276405,NM_018114 DALRD3,DALRD3,DALRD3 EXON Missense_R336W,Missense_R336W,Missense_R169W exm313521 3 49054692 [T/C] NM_001009996,NM_001276405,NM_018114 DALRD3,DALRD3,DALRD3 EXON Missense_Q299R,Missense_Q299R,Missense_Q132R exm313525 3 49054758 [A/C] NM_001009996,NM_001276405,NM_018114 DALRD3,DALRD3,DALRD3 EXON Missense_C277F,Missense_C277F,Missense_C110F exm313526 3 49054768 [T/G] NM_001009996,NM_001276405,NM_018114 DALRD3,DALRD3,DALRD3 EXON Missense_T274P,Missense_T274P,Missense_T107P exm313532 3 49055183 [T/C] NM_001009996,NM_001276405,NM_018114 DALRD3,DALRD3,DALRD3 EXON Missense_H194R,Missense_H194R,Missense_H27R exm2269622 3 49058793 [T/G] NM_199074,NM_199073 NDUFAF3,NDUFAF3 EXON Silent,Silent exm313568 3 49059892 [A/C] NM_199074,NM_199073,NM_199070,NM_199069 NDUFAF3,NDUFAF3,NDUFAF3,NDUFAF3 EXON Missense_N7T,Missense_N7T,Missense_N7T,Missense_N64T exm313569 3 49059894 [A/T] NM_199074,NM_199073,NM_199070,NM_199069 NDUFAF3,NDUFAF3,NDUFAF3,NDUFAF3 EXON Missense_S8C,Missense_S8C,Missense_S8C,Missense_S65C exm313581 3 49060200 [A/T] NM_199074,NM_199073,NM_199070,NM_199069 NDUFAF3,NDUFAF3,NDUFAF3,NDUFAF3 EXON Synonymous_I55I,Synonymous_I55I,Synonymous_I55I,Synonymous_I112I exm313628 3 49064398 [T/C] NM_000884 IMPDH2 EXON Missense_K205R exm313654 3 49067904 [T/C] NM_198880,NM_017730 QRICH1,QRICH1 EXON Missense_N771S,Missense_N771S exm313659 3 49068013 [T/G] NM_198880,NM_017730 QRICH1,QRICH1 EXON Missense_N735H,Missense_N735H exm2256059 3 49085923 [A/C] NM_198880,NM_017730 QRICH1,QRICH1 Silent,Silent exm313691 3 49094486 [A/G] NM_198880,NM_017730 QRICH1,QRICH1 EXON Missense_L383F,Missense_L383F exm313730 3 49135441 [T/C] NM_001272073,NR_073590,NM_005051 QARS,QARS,QARS EXON Missense_D743G,Silent,Missense_D754G exm313739 3 49135653 [A/G] NM_001272073,NR_073590,NM_005051 QARS,QARS,QARS EXON Missense_P697L,Silent,Missense_P708L exm313760 3 49136359 [A/C] NM_001272073,NR_073590,NM_005051 QARS,QARS,QARS EXON Missense_F597V,Silent,Missense_F608V exm313765 3 49136421 [A/G] NM_001272073,NR_073590,NM_005051 QARS,QARS,QARS EXON Missense_S576F,Silent,Missense_S587F exm313769 3 49136602 [A/G] NM_001272073,NR_073590,NM_005051 QARS,QARS,QARS EXON Nonsense_R556X,Silent,Nonsense_R567X exm2054980 3 49136779 [A/G] NM_001272073,NR_073590,NM_005051 QARS,QARS,QARS EXON Missense_R527W,Silent,Missense_R538W exm2054981 3 49136823 [T/C] NM_001272073,NR_073590,NM_005051 QARS,QARS,QARS EXON Missense_R512Q,Silent,Missense_R523Q exm313782 3 49137043 [T/C] NM_001272073,NR_073590,NM_005051 QARS,QARS,QARS EXON Missense_V465I,Silent,Missense_V476I exm313795 3 49137443 [T/C] NM_001272073,NR_073590,NM_005051 QARS,QARS,QARS EXON Missense_V405I,Silent,Missense_V416I exm313799 3 49137494 [T/C] NM_001272073,NR_073590,NM_005051 QARS,QARS,QARS EXON Missense_E388K,Silent,Missense_E399K exm313809 3 49138037 [A/G] NM_001272073,NR_073590,NM_005051 QARS,QARS,QARS EXON Missense_T305M,Silent,Missense_T316M exm313811 3 49138810 [T/C] NM_001272073,NR_073590,NM_005051 QARS,QARS,QARS EXON Missense_N274S,Silent,Missense_N285S exm313823 3 49139291 [A/G] NM_001272073,NR_073590,NM_005051 QARS,QARS,QARS EXON Missense_R214W,Silent,Missense_R225W exm313834 3 49141115 [A/G] NM_001272073,NR_073590,NM_005051 QARS,QARS,QARS EXON Missense_R123W,Silent,Missense_R134W exm2239761 3 49141120 [G/C] NM_001272073,NR_073590,NM_005051 QARS,QARS,QARS EXON Missense_R121T,Silent,Missense_R132T exm313837 3 49141355 [T/C] NM_001272073,NR_073590,NM_005051 QARS,QARS,QARS EXON Missense_D95N,Silent,Missense_D106N exm313851 3 49142142 [T/G] NM_001272073,NR_073590,NM_005051 QARS,QARS,QARS EXON Missense_L9I,Silent,Missense_L9I exm313855 3 49145895 [T/G] NM_001199161,NM_001199162 USP19,USP19 EXON Missense_P1369T,Missense_P1357T exm313856 3 49146401 [T/C] NM_001199161,NM_001199162,NM_001199160,NM_006677 USP19,USP19,USP19,USP19 EXON Silent,Silent,Missense_R1417H,Missense_R1316H exm313874 3 49147760 [T/C] NM_001199161,NM_001199162,NM_001199160,NM_006677 USP19,USP19,USP19,USP19 EXON Missense_V1299I,Missense_V1287I,Missense_V1297I,Missense_V1196I exm313879 3 49147897 [A/C] NM_001199161,NM_001199162,NM_001199160,NM_006677 USP19,USP19,USP19,USP19 EXON Missense_S1280I,Missense_S1268I,Missense_S1278I,Missense_S1177I exm313884 3 49148214 [A/G] NM_001199161,NM_001199162,NM_001199160,NM_006677 USP19,USP19,USP19,USP19 EXON Missense_L1210F,Missense_L1198F,Missense_L1208F,Missense_L1107F exm2239762 3 49148450 [A/G] NM_001199161,NM_001199162,NM_001199160,NM_006677 USP19,USP19,USP19,USP19 EXON Missense_H1160Y,Missense_H1148Y,Missense_H1158Y,Missense_H1057Y exm313904 3 49149020 [T/C] NM_001199161,NM_001199162,NM_001199160,NM_006677 USP19,USP19,USP19,USP19 EXON Missense_T1044A,Missense_T1032A,Missense_T1042A,Missense_T941A exm313906 3 49149038 [A/G] NM_001199161,NM_001199162,NM_001199160,NM_006677 USP19,USP19,USP19,USP19 EXON Missense_R1038W,Missense_R1026W,Missense_R1036W,Missense_R935W exm313908 3 49149059 [A/G] NM_001199161,NM_001199162,NM_001199160,NM_006677 USP19,USP19,USP19,USP19 EXON Missense_R1031W,Missense_R1019W,Missense_R1029W,Missense_R928W exm313910 3 49149151 [A/G] NM_001199161,NM_001199162,NM_001199160,NM_006677 USP19,USP19,USP19,USP19 EXON Missense_S1000F,Missense_S988F,Missense_S998F,Missense_S897F exm313911 3 49149169 [A/G] NM_001199161,NM_001199162,NM_001199160,NM_006677 USP19,USP19,USP19,USP19 EXON Missense_T994I,Missense_T982I,Missense_T992I,Missense_T891I exm313929 3 49150049 [T/C] NM_001199161,NM_001199162,NM_001199160,NM_006677 USP19,USP19,USP19,USP19 EXON Missense_R840H,Missense_R828H,Missense_R838H,Missense_R737H exm313950 3 49152707 [A/G] NM_001199161,NM_001199162,NM_001199160,NM_006677 USP19,USP19,USP19,USP19 EXON Missense_A659V,Missense_A647V,Missense_A657V,Missense_A556V exm313962 3 49153185 [T/G] NM_001199161,NM_001199162,NM_001199160,NM_006677 USP19,USP19,USP19,USP19 EXON Missense_T555N,Missense_T543N,Missense_T553N,Missense_T452N exm313984 3 49153935 [T/G] NM_001199161,NM_001199162,NM_001199160,NM_006677 USP19,USP19,USP19,USP19 EXON Missense_T411N,Missense_T401N,Missense_T411N,Missense_T310N exm313998 3 49154238 [A/G] NM_001199161,NM_001199162,NM_001199160,NM_006677 USP19,USP19,USP19,USP19 EXON Missense_R350W,Missense_R340W,Missense_R350W,Missense_R249W exm314004 3 49154880 [A/G] NM_001199161,NM_001199162,NM_001199160,NM_006677 USP19,USP19,USP19,USP19 EXON Missense_P199L,Silent,Missense_P199L,Missense_P199L exm314005 3 49154893 [T/C] NM_001199161,NM_001199162,NM_001199160,NM_006677 USP19,USP19,USP19,USP19 EXON Missense_M195V,Silent,Missense_M195V,Missense_M195V exm314010 3 49154948 [T/A] NM_001199161,NM_001199162,NM_001199160,NM_006677 USP19,USP19,USP19,USP19 EXON Missense_K176N,Missense_K176N,Missense_K176N,Missense_K176N exm314015 3 49155168 [A/G] NM_001199161,NM_001199162,NM_001199160,NM_006677 USP19,USP19,USP19,USP19 EXON Missense_R132C,Missense_R132C,Missense_R132C,Missense_R132C exm314031 3 49156473 [C/G] NM_001199161,NM_001199162,NM_001199160,NM_006677 USP19,USP19,USP19,USP19 EXON Missense_D36H,Missense_D36H,Missense_D36H,Missense_D36H exm314034 3 49156520 [A/G] NM_001199161,NM_001199162,NM_001199160,NM_006677 USP19,USP19,USP19,USP19 EXON Missense_T20I,Missense_T20I,Missense_T20I,Missense_T20I exm314038 3 49158670 [T/G] NM_002292 LAMB2 EXON Missense_T1796P exm314039 3 49158677 [C/G] NM_002292 LAMB2 EXON Missense_I1793M exm314040 3 49158763 [T/C] NM_002292 LAMB2 EXON Missense_A1765T exm314046 3 49158893 [T/C] NM_002292 LAMB2 EXON Missense_A1745T exm314048 3 49158913 [A/G] NM_002292 LAMB2 EXON Missense_A1738V exm314061 3 49159178 [A/G] NM_002292 LAMB2 EXON Missense_A1680V exm314069 3 49159265 [T/C] NM_002292 LAMB2 EXON Missense_R1651Q exm314078 3 49159603 [A/G] NM_002292 LAMB2 EXON Missense_R1592W exm314082 3 49160151 [T/C] NM_002292 LAMB2 EXON Missense_K1520R exm314086 3 49160272 [T/C] NM_002292 LAMB2 EXON Missense_T1480A exm2055081 3 49160340 [T/C] NM_002292 LAMB2 EXON Missense_R1457Q exm314105 3 49160626 [T/C] NM_002292 LAMB2 EXON Missense_R1388Q exm314107 3 49160640 [T/G] NM_002292 LAMB2 EXON Missense_H1383Q exm314111 3 49160671 [T/C] NM_002292 LAMB2 EXON Missense_D1373G exm314117 3 49160755 [T/C] NM_002292 LAMB2 EXON Missense_R1345H exm314124 3 49160987 [T/A] NM_002292 LAMB2 EXON Missense_N1292I exm314138 3 49161284 [T/C] NM_002292 LAMB2 EXON Missense_G1225D exm2055094 3 49161317 [T/C] NM_002292 LAMB2 EXON Missense_R1214Q exm314146 3 49161515 [T/C] NM_002292 LAMB2 EXON Missense_R1148H exm314153 3 49161698 [A/G] NM_002292 LAMB2 EXON Missense_R1117C exm314155 3 49161830 [T/C] NM_002292 LAMB2 EXON Missense_E1109K exm314156 3 49161853 [T/C] NM_002292 LAMB2 EXON Missense_R1101Q exm314159 3 49161923 [A/G] NM_002292 LAMB2 EXON Missense_R1078C exm314167 3 49162268 [A/G] NM_002292 LAMB2 EXON Missense_I992T exm314169 3 49162284 [T/C] NM_002292 LAMB2 EXON Missense_E987K exm314170 3 49162298 [T/C] NM_002292 LAMB2 EXON Missense_R982Q exm314172 3 49162469 [A/T] NM_002292 LAMB2 EXON Missense_I952F exm314173 3 49162513 [T/C] NM_002292 LAMB2 EXON Missense_R937Q exm314177 3 49162583 [T/C] NM_002292 LAMB2 EXON Missense_G914R exm314192 3 49163234 [A/G] NM_002292 LAMB2 EXON Missense_R812C exm314193 3 49163236 [T/C] NM_002292 LAMB2 EXON Missense_R811H exm2055116 3 49163260 [A/G] NM_002292 LAMB2 EXON Missense_L803P exm314200 3 49163473 [T/G] NM_002292 LAMB2 EXON Missense_S757R exm314201 3 49163507 [T/C] NM_002292 LAMB2 EXON Missense_R746H exm2055119 3 49163577 [A/G] NM_002292 LAMB2 EXON Missense_R723C exm314205 3 49163850 [T/C] NM_002292 LAMB2 EXON Missense_G700E exm314207 3 49163860 [A/G] NM_002292 LAMB2 EXON Missense_R697W exm314209 3 49165978 [T/C] NM_002292 LAMB2 EXON Missense_R644H exm314211 3 49166098 [A/G] NM_002292 LAMB2 EXON Missense_P629L exm314217 3 49166222 [G/C] NM_002292 LAMB2 EXON Missense_P588A exm314218 3 49166228 [T/C] NM_002292 LAMB2 EXON Missense_V586M exm314222 3 49166460 [T/C] NM_002292 LAMB2 EXON Missense_R575Q exm314229 3 49166718 [A/G] NM_002292 LAMB2 EXON Missense_R520C exm314235 3 49167113 [T/C] NM_002292 LAMB2 EXON Missense_S481N exm314236 3 49167132 [A/G] NM_002292 LAMB2 EXON Missense_R475W exm2273926 3 49167286 [T/C] NM_002292 LAMB2 EXON Missense_R464H exm2055138 3 49167350 [A/G] NM_002292 LAMB2 EXON Missense_H443Y exm314241 3 49167371 [T/C] NM_002292 LAMB2 EXON Missense_G436S exm314246 3 49167696 [A/G] NM_002292 LAMB2 EXON Missense_T398I exm314259 3 49168384 [A/G] NM_002292 LAMB2 EXON Missense_M305T exm314266 3 49168511 [A/G] NM_002292 LAMB2 EXON Missense_R263W exm314270 3 49168821 [A/G] NM_002292 LAMB2 EXON Missense_R235W exm314275 3 49169018 [T/C] NM_002292 LAMB2 EXON Missense_V200I exm314276 3 49169033 [A/G] NM_002292 LAMB2 EXON Missense_R195W exm2275668 3 49169827 [G/C] NM_002292 LAMB2 EXON Missense_K87N exm314289 3 49170064 [C/G] NM_002292 LAMB2 EXON Missense_P37A exm314290 3 49170072 [T/G] NM_002292 LAMB2 EXON Missense_A34D exm2275669 3 49200259 [G/C] NM_022903 CCDC71 EXON Missense_L461F exm314312 3 49200573 [A/G] NM_022903 CCDC71 EXON Missense_R357W exm314323 3 49200627 [A/G] NM_022903 CCDC71 EXON Missense_W339R exm314324 3 49200641 [T/C] NM_022903 CCDC71 EXON Missense_K334R exm314326 3 49200651 [T/C] NM_022903 CCDC71 EXON Missense_A331T exm314328 3 49200692 [T/A] NM_022903 CCDC71 EXON Missense_Q317L exm314333 3 49200866 [T/C] NM_022903 CCDC71 EXON Missense_N259S exm314340 3 49200971 [T/C] NM_022903 CCDC71 EXON Missense_R224Q exm314345 3 49201046 [T/C] NM_022903 CCDC71 EXON Missense_Q199R exm314351 3 49201323 [T/C] NM_022903 CCDC71 EXON Missense_M107V exm314365 3 49210519 [A/G] NM_173546 KLHDC8B EXON Missense_R106H exm-rs7617480 3 49210732 [A/C] NM_173546 KLHDC8B Silent exm314371 3 49211815 [A/G] NM_173546 KLHDC8B EXON Missense_G174R exm314379 3 49212355 [A/G] NM_173546 KLHDC8B EXON Missense_R241H exm314408 3 49215404 [T/C] NM_001080528 LOC646498 EXON Missense_A94T exm314429 3 49249233 [A/G] NM_178173,NM_001135197 CCDC36,CCDC36 EXON Missense_N7S,Missense_N7S exm314433 3 49274027 [A/G] NM_178173,NM_001135197 CCDC36,CCDC36 EXON Missense_S35G,Missense_S35G exm314447 3 49282098 [A/G] NM_178173,NM_001135197 CCDC36,CCDC36 EXON Missense_K155R,Missense_K155R exm314454 3 49293732 [A/G] NM_178173,NM_001135197 CCDC36,CCDC36 EXON Missense_D268N,Missense_D268N exm314457 3 49293819 [T/G] NM_178173,NM_001135197 CCDC36,CCDC36 EXON Missense_W297G,Missense_W297G exm314461 3 49293960 [A/G] NM_178173,NM_001135197 CCDC36,CCDC36 EXON Missense_R344G,Missense_R344G exm314478 3 49294250 [A/C] NM_178173,NM_001135197 CCDC36,CCDC36 EXON Missense_D440E,Missense_D440E exm314483 3 49294425 [T/C] NM_178173,NM_001135197 CCDC36,CCDC36 EXON Missense_P499S,Missense_P499S exm314486 3 49294503 [A/G] NM_178173,NM_001135197 CCDC36,CCDC36 EXON Missense_T525A,Missense_T525A exm2055216 3 49294683 [A/G] NM_178173,NM_001135197 CCDC36,CCDC36 EXON Missense_G585S,Missense_G585S exm314505 3 49308696 [T/C] NM_198562 C3orf62 EXON Missense_D241N exm314510 3 49308804 [T/C] NM_198562 C3orf62 EXON Missense_G205S exm314522 3 49313882 [T/C] NM_198562 C3orf62 EXON Missense_N142D exm314523 3 49313893 [T/C] NM_198562 C3orf62 EXON Missense_G138E exm314527 3 49313978 [T/C] NM_198562 C3orf62 EXON Missense_E110K exm314530 3 49313995 [C/G] NM_198562 C3orf62 EXON Missense_P104R exm314533 3 49314251 [T/C] NM_198562 C3orf62 EXON Missense_R19G exm314539 3 49315843 [A/C] NM_003363,NM_199443 USP4,USP4 EXON Missense_D925E,Missense_D878E exm314543 3 49316308 [T/C] NM_003363,NM_199443 USP4,USP4 EXON Missense_N891S,Missense_N844S exm314552 3 49321424 [T/C] NM_003363,NM_199443 USP4,USP4 EXON Missense_I846V,Missense_I799V exm314562 3 49321998 [G/C] NM_003363,NM_199443 USP4,USP4 EXON Missense_S764T,Missense_S717T exm2256060 3 49322012 [A/G] NM_003363,NM_199443 USP4,USP4 EXON Synonymous_Y759Y,Synonymous_Y712Y exm314579 3 49329966 [T/C] NM_003363,NM_199443 USP4,USP4 EXON Missense_N650S,Missense_N603S exm314581 3 49330026 [T/C] NM_003363,NM_199443 USP4,USP4 EXON Missense_Y630C,Missense_Y583C exm314583 3 49330030 [A/G] NM_003363,NM_199443 USP4,USP4 EXON Missense_R629C,Missense_R582C exm314587 3 49331864 [T/C] NM_003363,NM_199443 USP4,USP4 EXON Missense_Y620C,Missense_Y573C exm314603 3 49335360 [T/C] NM_003363,NM_199443 USP4,USP4 EXON Missense_K545R,Missense_K498R exm314612 3 49337950 [T/C] NM_003363,NM_199443 USP4,USP4 EXON Missense_V488I,Missense_V441I exm314620 3 49339833 [T/C] NM_003363,NM_199443 USP4,USP4 EXON Missense_N424S,Missense_N377S exm314624 3 49343212 [T/C] NM_003363,NM_199443 USP4,USP4 EXON Missense_Y355C,Missense_Y308C exm314625 3 49343264 [T/C] NM_003363,NM_199443 USP4,USP4 EXON Missense_E338K,Missense_E291K exm314628 3 49348052 [T/C] NM_003363,NM_199443 USP4,USP4 Silent,Silent exm314643 3 49362424 [T/C] NM_003363,NM_199443,NM_001251877 USP4,USP4,USP4 EXON Missense_R179H,Missense_R179H,Missense_R179H exm314648 3 49363239 [T/C] NM_003363,NM_199443,NM_001251877 USP4,USP4,USP4 EXON Missense_E134K,Missense_E134K,Missense_E134K exm314649 3 49363244 [A/T] NM_003363,NM_199443,NM_001251877 USP4,USP4,USP4 EXON Missense_K132I,Missense_K132I,Missense_K132I exm314650 3 49363262 [A/G] NM_003363,NM_199443,NM_001251877 USP4,USP4,USP4 EXON Missense_L126P,Missense_L126P,Missense_L126P exm314655 3 49365133 [T/G] NM_003363,NM_199443,NM_001251877 USP4,USP4,USP4 EXON Missense_P116T,Missense_P116T,Missense_P116T exm314659 3 49365166 [T/G] NM_003363,NM_199443,NM_001251877 USP4,USP4,USP4 EXON Missense_L105I,Missense_L105I,Missense_L105I exm314671 3 49373003 [T/C] NM_003363,NM_199443,NM_001251877 USP4,USP4,USP4 EXON Missense_K43R,Missense_K43R,Missense_K43R exm314674 3 49377361 [A/G] NM_003363,NM_199443,NM_001251877 USP4,USP4,USP4 EXON Nonsense_Q33X,Nonsense_Q33X,Nonsense_Q33X exm2055272 3 49377424 [A/C] NM_003363,NM_199443,NM_001251877 USP4,USP4,USP4 EXON Missense_D12Y,Missense_D12Y,Missense_D12Y exm314677 3 49377436 [C/G] NM_003363,NM_199443,NM_001251877 USP4,USP4,USP4 EXON Missense_R8G,Missense_R8G,Missense_R8G exm314739 3 49450021 [C/G] NM_022171 TCTA EXON Missense_Q54H exm314750 3 49450535 [A/C] NM_022171 TCTA EXON Missense_F87L exm2273927 3 49452278 [A/G] NM_022171 TCTA EXON Missense_K99E exm314764 3 49455040 [T/C] NM_000481,NR_028435,NM_001164712,NM_001164711,NM_001164710 AMT,AMT,AMT,AMT,AMT EXON Missense_R382Q,Silent,Silent,Missense_R326Q,Missense_R338Q exm314765 3 49455049 [T/G] NM_000481,NR_028435,NM_001164712,NM_001164711,NM_001164710 AMT,AMT,AMT,AMT,AMT EXON Missense_E379A,Silent,Missense_E379A,Missense_E323A,Missense_E335A exm314766 3 49455073 [T/C] NM_000481,NR_028435,NM_001164712,NM_001164711,NM_001164710 AMT,AMT,AMT,AMT,AMT EXON Missense_R371H,Silent,Missense_R371H,Missense_R315H,Missense_R327H exm314773 3 49455323 [T/C] NM_000481,NR_028435,NM_001164712,NM_001164711,NM_001164710 AMT,AMT,AMT,AMT,AMT EXON Missense_V321M,Silent,Missense_V321M,Missense_V265M,Missense_V277M exm-rs11715915 3 49455330 [T/C] NM_000481,NR_028435,NM_001164712,NM_001164711,NM_001164710 AMT,AMT,AMT,AMT,AMT EXON Synonymous_R318R,Silent,Synonymous_R318R,Synonymous_R262R,Synonymous_R274R exm314779 3 49455386 [T/C] NM_000481,NR_028435,NM_001164712,NM_001164711,NM_001164710 AMT,AMT,AMT,AMT,AMT EXON Missense_M300V,Silent,Missense_M300V,Missense_M244V,Missense_M256V exm314780 3 49456456 [T/A] NM_000481,NR_028435,NM_001164712,NM_001164711,NM_001164710 AMT,AMT,AMT,AMT,AMT EXON Missense_N275K,Silent,Missense_N275K,Missense_N219K,Missense_N231K exm314788 3 49456754 [A/G] NM_000481,NR_028435,NM_001164712,NM_001164711,NM_001164710 AMT,AMT,AMT,AMT,AMT EXON Missense_V212A,Silent,Missense_V212A,Missense_V156A,Missense_V168A exm314790 3 49456758 [T/C] NM_000481,NR_028435,NM_001164712,NM_001164711,NM_001164710 AMT,AMT,AMT,AMT,AMT EXON Missense_E211K,Silent,Missense_E211K,Missense_E155K,Missense_E167K exm314802 3 49457652 [A/G] NM_000481,NR_028435,NM_001164712,NM_001164711,NM_001164710 AMT,AMT,AMT,AMT,AMT EXON Missense_L155F,Silent,Missense_L155F,Missense_L99F,Silent exm314818 3 49459643 [A/G] NM_000481,NR_028435,NM_001164712,NM_001164711,NM_001164710 AMT,AMT,AMT,AMT,AMT EXON Missense_A51V,Silent,Missense_A51V,Silent,Missense_A51V exm2273928 3 49459647 [A/C] NM_000481,NR_028435,NM_001164712,NM_001164711,NM_001164710 AMT,AMT,AMT,AMT,AMT EXON Missense_V50L,Silent,Missense_V50L,Silent,Missense_V50L exm314821 3 49459694 [T/C] NM_000481,NR_028435,NM_001164712,NM_001164711,NM_001164710 AMT,AMT,AMT,AMT,AMT EXON Missense_R34H,Silent,Missense_R34H,Silent,Missense_R34H exm314839 3 49462805 [A/G] NM_032316 NICN1 EXON Missense_R164C exm314841 3 49462856 [A/G] NM_032316 NICN1 EXON Missense_F147L exm314849 3 49463396 [A/G] NM_032316 NICN1 EXON Missense_R115C exm314865 3 49548008 [C/G] NM_001177643,NM_001177642,NM_001177641,NM_001177640,NM_001177636,NM_001165928,NM_001177639,NM_001177638,NM_001177637,NM_004393,NM_001177634,NM_001177635,NM_001177644 DAG1,DAG1,DAG1,DAG1,DAG1,DAG1,DAG1,DAG1,DAG1,DAG1,DAG1,DAG1,DAG1 EXON Missense_S14W,Missense_S14W,Missense_S14W,Missense_S14W,Missense_S14W,Missense_S14W,Missense_S14W,Missense_S14W,Missense_S14W,Missense_S14W,Missense_S14W,Missense_S14W,Missense_S14W exm314869 3 49548060 [T/G] NM_001177643,NM_001177642,NM_001177641,NM_001177640,NM_001177636,NM_001165928,NM_001177639,NM_001177638,NM_001177637,NM_004393,NM_001177634,NM_001177635,NM_001177644 DAG1,DAG1,DAG1,DAG1,DAG1,DAG1,DAG1,DAG1,DAG1,DAG1,DAG1,DAG1,DAG1 EXON Missense_W31C,Missense_W31C,Missense_W31C,Missense_W31C,Missense_W31C,Missense_W31C,Missense_W31C,Missense_W31C,Missense_W31C,Missense_W31C,Missense_W31C,Missense_W31C,Missense_W31C exm314871 3 49548118 [T/C] NM_001177643,NM_001177642,NM_001177641,NM_001177640,NM_001177636,NM_001165928,NM_001177639,NM_001177638,NM_001177637,NM_004393,NM_001177634,NM_001177635,NM_001177644 DAG1,DAG1,DAG1,DAG1,DAG1,DAG1,DAG1,DAG1,DAG1,DAG1,DAG1,DAG1,DAG1 EXON Missense_H51Y,Missense_H51Y,Missense_H51Y,Missense_H51Y,Missense_H51Y,Missense_H51Y,Missense_H51Y,Missense_H51Y,Missense_H51Y,Missense_H51Y,Missense_H51Y,Missense_H51Y,Missense_H51Y exm2055334 3 49548127 [G/C] NM_001177643,NM_001177642,NM_001177641,NM_001177640,NM_001177636,NM_001165928,NM_001177639,NM_001177638,NM_001177637,NM_004393,NM_001177634,NM_001177635,NM_001177644 DAG1,DAG1,DAG1,DAG1,DAG1,DAG1,DAG1,DAG1,DAG1,DAG1,DAG1,DAG1,DAG1 EXON Missense_L54V,Missense_L54V,Missense_L54V,Missense_L54V,Missense_L54V,Missense_L54V,Missense_L54V,Missense_L54V,Missense_L54V,Missense_L54V,Missense_L54V,Missense_L54V,Missense_L54V exm314878 3 49548187 [A/G] NM_001177643,NM_001177642,NM_001177641,NM_001177640,NM_001177636,NM_001165928,NM_001177639,NM_001177638,NM_001177637,NM_004393,NM_001177634,NM_001177635,NM_001177644 DAG1,DAG1,DAG1,DAG1,DAG1,DAG1,DAG1,DAG1,DAG1,DAG1,DAG1,DAG1,DAG1 EXON Missense_V74I,Missense_V74I,Missense_V74I,Missense_V74I,Missense_V74I,Missense_V74I,Missense_V74I,Missense_V74I,Missense_V74I,Missense_V74I,Missense_V74I,Missense_V74I,Missense_V74I exm314882 3 49548225 [C/G] NM_001177643,NM_001177642,NM_001177641,NM_001177640,NM_001177636,NM_001165928,NM_001177639,NM_001177638,NM_001177637,NM_004393,NM_001177634,NM_001177635,NM_001177644 DAG1,DAG1,DAG1,DAG1,DAG1,DAG1,DAG1,DAG1,DAG1,DAG1,DAG1,DAG1,DAG1 EXON Missense_L86F,Missense_L86F,Missense_L86F,Missense_L86F,Missense_L86F,Missense_L86F,Missense_L86F,Missense_L86F,Missense_L86F,Missense_L86F,Missense_L86F,Missense_L86F,Missense_L86F exm314883 3 49548226 [A/G] NM_001177643,NM_001177642,NM_001177641,NM_001177640,NM_001177636,NM_001165928,NM_001177639,NM_001177638,NM_001177637,NM_004393,NM_001177634,NM_001177635,NM_001177644 DAG1,DAG1,DAG1,DAG1,DAG1,DAG1,DAG1,DAG1,DAG1,DAG1,DAG1,DAG1,DAG1 EXON Missense_I87V,Missense_I87V,Missense_I87V,Missense_I87V,Missense_I87V,Missense_I87V,Missense_I87V,Missense_I87V,Missense_I87V,Missense_I87V,Missense_I87V,Missense_I87V,Missense_I87V exm314885 3 49548245 [T/C] NM_001177643,NM_001177642,NM_001177641,NM_001177640,NM_001177636,NM_001165928,NM_001177639,NM_001177638,NM_001177637,NM_004393,NM_001177634,NM_001177635,NM_001177644 DAG1,DAG1,DAG1,DAG1,DAG1,DAG1,DAG1,DAG1,DAG1,DAG1,DAG1,DAG1,DAG1 EXON Missense_I93T,Missense_I93T,Missense_I93T,Missense_I93T,Missense_I93T,Missense_I93T,Missense_I93T,Missense_I93T,Missense_I93T,Missense_I93T,Missense_I93T,Missense_I93T,Missense_I93T exm314890 3 49568275 [A/G] NM_001177643,NM_001177642,NM_001177641,NM_001177640,NM_001177636,NM_001165928,NM_001177639,NM_001177638,NM_001177637,NM_004393,NM_001177634,NM_001177635,NM_001177644 DAG1,DAG1,DAG1,DAG1,DAG1,DAG1,DAG1,DAG1,DAG1,DAG1,DAG1,DAG1,DAG1 EXON Missense_D111N,Missense_D111N,Missense_D111N,Missense_D111N,Missense_D111N,Missense_D111N,Missense_D111N,Missense_D111N,Missense_D111N,Missense_D111N,Missense_D111N,Missense_D111N,Missense_D111N exm314897 3 49568543 [C/G] NM_001177643,NM_001177642,NM_001177641,NM_001177640,NM_001177636,NM_001165928,NM_001177639,NM_001177638,NM_001177637,NM_004393,NM_001177634,NM_001177635,NM_001177644 DAG1,DAG1,DAG1,DAG1,DAG1,DAG1,DAG1,DAG1,DAG1,DAG1,DAG1,DAG1,DAG1 EXON Missense_T200S,Missense_T200S,Missense_T200S,Missense_T200S,Missense_T200S,Missense_T200S,Missense_T200S,Missense_T200S,Missense_T200S,Missense_T200S,Missense_T200S,Missense_T200S,Missense_T200S exm314899 3 49568557 [A/G] NM_001177643,NM_001177642,NM_001177641,NM_001177640,NM_001177636,NM_001165928,NM_001177639,NM_001177638,NM_001177637,NM_004393,NM_001177634,NM_001177635,NM_001177644 DAG1,DAG1,DAG1,DAG1,DAG1,DAG1,DAG1,DAG1,DAG1,DAG1,DAG1,DAG1,DAG1 EXON Missense_K205E,Missense_K205E,Missense_K205E,Missense_K205E,Missense_K205E,Missense_K205E,Missense_K205E,Missense_K205E,Missense_K205E,Missense_K205E,Missense_K205E,Missense_K205E,Missense_K205E exm314912 3 49568966 [T/C] NM_001177643,NM_001177642,NM_001177641,NM_001177640,NM_001177636,NM_001165928,NM_001177639,NM_001177638,NM_001177637,NM_004393,NM_001177634,NM_001177635,NM_001177644 DAG1,DAG1,DAG1,DAG1,DAG1,DAG1,DAG1,DAG1,DAG1,DAG1,DAG1,DAG1,DAG1 EXON Missense_T341I,Missense_T341I,Missense_T341I,Missense_T341I,Missense_T341I,Missense_T341I,Missense_T341I,Missense_T341I,Missense_T341I,Missense_T341I,Missense_T341I,Missense_T341I,Missense_T341I exm314920 3 49569159 [A/G] NM_001177643,NM_001177642,NM_001177641,NM_001177640,NM_001177636,NM_001165928,NM_001177639,NM_001177638,NM_001177637,NM_004393,NM_001177634,NM_001177635,NM_001177644 DAG1,DAG1,DAG1,DAG1,DAG1,DAG1,DAG1,DAG1,DAG1,DAG1,DAG1,DAG1,DAG1 EXON Missense_M405I,Missense_M405I,Missense_M405I,Missense_M405I,Missense_M405I,Missense_M405I,Missense_M405I,Missense_M405I,Missense_M405I,Missense_M405I,Missense_M405I,Missense_M405I,Missense_M405I exm314926 3 49569251 [T/C] NM_001177643,NM_001177642,NM_001177641,NM_001177640,NM_001177636,NM_001165928,NM_001177639,NM_001177638,NM_001177637,NM_004393,NM_001177634,NM_001177635,NM_001177644 DAG1,DAG1,DAG1,DAG1,DAG1,DAG1,DAG1,DAG1,DAG1,DAG1,DAG1,DAG1,DAG1 EXON Missense_T436M,Missense_T436M,Missense_T436M,Missense_T436M,Missense_T436M,Missense_T436M,Missense_T436M,Missense_T436M,Missense_T436M,Missense_T436M,Missense_T436M,Missense_T436M,Missense_T436M exm2055346 3 49569415 [A/G] NM_001177643,NM_001177642,NM_001177641,NM_001177640,NM_001177636,NM_001165928,NM_001177639,NM_001177638,NM_001177637,NM_004393,NM_001177634,NM_001177635,NM_001177644 DAG1,DAG1,DAG1,DAG1,DAG1,DAG1,DAG1,DAG1,DAG1,DAG1,DAG1,DAG1,DAG1 EXON Missense_G491R,Missense_G491R,Missense_G491R,Missense_G491R,Missense_G491R,Missense_G491R,Missense_G491R,Missense_G491R,Missense_G491R,Missense_G491R,Missense_G491R,Missense_G491R,Missense_G491R exm2055350 3 49569634 [A/C] NM_001177643,NM_001177642,NM_001177641,NM_001177640,NM_001177636,NM_001165928,NM_001177639,NM_001177638,NM_001177637,NM_004393,NM_001177634,NM_001177635,NM_001177644 DAG1,DAG1,DAG1,DAG1,DAG1,DAG1,DAG1,DAG1,DAG1,DAG1,DAG1,DAG1,DAG1 EXON Missense_L564I,Missense_L564I,Missense_L564I,Missense_L564I,Missense_L564I,Missense_L564I,Missense_L564I,Missense_L564I,Missense_L564I,Missense_L564I,Missense_L564I,Missense_L564I,Missense_L564I exm314950 3 49569980 [A/G] NM_001177643,NM_001177642,NM_001177641,NM_001177640,NM_001177636,NM_001165928,NM_001177639,NM_001177638,NM_001177637,NM_004393,NM_001177634,NM_001177635,NM_001177644 DAG1,DAG1,DAG1,DAG1,DAG1,DAG1,DAG1,DAG1,DAG1,DAG1,DAG1,DAG1,DAG1 EXON Missense_R679H,Missense_R679H,Missense_R679H,Missense_R679H,Missense_R679H,Missense_R679H,Missense_R679H,Missense_R679H,Missense_R679H,Missense_R679H,Missense_R679H,Missense_R679H,Missense_R679H exm314952 3 49570009 [T/C] NM_001177643,NM_001177642,NM_001177641,NM_001177640,NM_001177636,NM_001165928,NM_001177639,NM_001177638,NM_001177637,NM_004393,NM_001177634,NM_001177635,NM_001177644 DAG1,DAG1,DAG1,DAG1,DAG1,DAG1,DAG1,DAG1,DAG1,DAG1,DAG1,DAG1,DAG1 EXON Missense_R689W,Missense_R689W,Missense_R689W,Missense_R689W,Missense_R689W,Missense_R689W,Missense_R689W,Missense_R689W,Missense_R689W,Missense_R689W,Missense_R689W,Missense_R689W,Missense_R689W exm314962 3 49570175 [C/G] NM_001177643,NM_001177642,NM_001177641,NM_001177640,NM_001177636,NM_001165928,NM_001177639,NM_001177638,NM_001177637,NM_004393,NM_001177634,NM_001177635,NM_001177644 DAG1,DAG1,DAG1,DAG1,DAG1,DAG1,DAG1,DAG1,DAG1,DAG1,DAG1,DAG1,DAG1 EXON Missense_S744T,Missense_S744T,Missense_S744T,Missense_S744T,Missense_S744T,Missense_S744T,Missense_S744T,Missense_S744T,Missense_S744T,Missense_S744T,Missense_S744T,Missense_S744T,Missense_S744T exm314990 3 49662500 [A/G] NM_003458 BSN EXON Missense_H106R exm314993 3 49662566 [T/C] NM_003458 BSN EXON Missense_T128M exm2055376 3 49679926 [A/G] NM_003458 BSN EXON Missense_V287M exm315011 3 49679930 [T/C] NM_003458 BSN EXON Missense_P288L exm315019 3 49680058 [A/G] NM_003458 BSN EXON Missense_A331T exm315024 3 49680130 [A/G] NM_003458 BSN EXON Missense_A355T exm315039 3 49680548 [A/T] NM_003458 BSN EXON Missense_N494I exm315065 3 49689007 [T/C] NM_003458 BSN EXON Missense_A673V exm315071 3 49689164 [G/C] NM_003458 BSN EXON Missense_H725Q exm315072 3 49689167 [C/G] NM_003458 BSN EXON Missense_K726N exm315076 3 49689210 [A/G] NM_003458 BSN EXON Missense_A741T exm315094 3 49689390 [A/G] NM_003458 BSN EXON Missense_E801K exm315096 3 49689449 [T/G] NM_003458 BSN EXON Missense_E820D exm315103 3 49689628 [G/C] NM_003458 BSN EXON Missense_R880T exm315104 3 49689642 [T/C] NM_003458 BSN EXON Missense_P885S exm315105 3 49689675 [T/C] NM_003458 BSN EXON Missense_R896C exm315148 3 49690684 [T/C] NM_003458 BSN EXON Missense_T1232I exm2239781 3 49690687 [T/C] NM_003458 BSN EXON Missense_T1233I exm2256062 3 49690706 [A/G] NM_003458 BSN EXON Synonymous_Q1239Q exm315157 3 49690794 [T/C] NM_003458 BSN EXON Missense_R1269C exm315161 3 49690890 [A/G] NM_003458 BSN EXON Missense_M1301V exm315174 3 49691131 [T/C] NM_003458 BSN EXON Missense_P1381L exm315179 3 49691290 [A/G] NM_003458 BSN EXON Missense_D1434G exm315184 3 49691430 [A/T] NM_003458 BSN EXON Missense_S1481T exm315191 3 49691482 [T/C] NM_003458 BSN EXON Missense_P1498L exm315194 3 49691544 [T/C] NM_003458 BSN EXON Missense_R1519W exm315209 3 49691838 [T/C] NM_003458 BSN EXON Missense_R1617W exm315210 3 49691856 [A/G] NM_003458 BSN EXON Missense_A1623T exm315219 3 49692096 [A/G] NM_003458 BSN EXON Missense_I1703V exm315221 3 49692120 [A/G] NM_003458 BSN EXON Missense_V1711M exm315224 3 49692183 [A/G] NM_003458 BSN EXON Missense_V1732M exm315226 3 49692212 [C/G] NM_003458 BSN EXON Missense_F1741L exm315228 3 49692261 [T/C] NM_003458 BSN EXON Missense_R1758C exm315256 3 49692910 [A/C] NM_003458 BSN EXON Missense_Q1974P exm315261 3 49692980 [A/T] NM_003458 BSN EXON Missense_H1997Q exm315273 3 49693500 [A/G] NM_003458 BSN EXON Missense_A2171T exm315286 3 49693797 [T/G] NM_003458 BSN EXON Missense_A2270S exm315289 3 49693975 [T/C] NM_003458 BSN EXON Missense_A2329V exm315301 3 49694230 [A/G] NM_003458 BSN EXON Missense_R2414Q exm315309 3 49694403 [T/C] NM_003458 BSN EXON Missense_R2472W exm315317 3 49694614 [T/C] NM_003458 BSN EXON Missense_T2542M exm315338 3 49694979 [A/G] NM_003458 BSN EXON Missense_V2664M exm315372 3 49698075 [A/G] NM_003458 BSN EXON Missense_V2933I exm315373 3 49698115 [A/G] NM_003458 BSN EXON Missense_R2946Q exm315374 3 49698130 [T/G] NM_003458 BSN EXON Missense_V2951G exm315383 3 49698316 [T/C] NM_003458 BSN EXON Missense_S3013L exm315392 3 49698498 [A/G] NM_003458 BSN EXON Missense_G3074R exm315400 3 49698681 [A/C] NM_003458 BSN EXON Missense_P3135T exm315403 3 49698714 [T/C] NM_003458 BSN EXON Missense_R3146C exm315406 3 49698732 [A/G] NM_003458 BSN EXON Missense_D3152N exm315419 3 49698957 [A/G] NM_003458 BSN EXON Missense_V3227I exm315424 3 49699107 [A/G] NM_003458 BSN EXON Missense_G3277R exm315426 3 49699114 [T/C] NM_003458 BSN EXON Missense_T3279I exm315430 3 49699168 [A/G] NM_003458 BSN EXON Missense_D3297G exm315433 3 49699197 [A/G] NM_003458 BSN EXON Missense_S3307G exm315444 3 49699371 [A/G] NM_003458 BSN EXON Missense_M3365V exm315453 3 49699596 [A/G] NM_003458 BSN EXON Missense_S3440G exm2055457 3 49699602 [T/C] NM_003458 BSN EXON Missense_R3442W exm315456 3 49699609 [A/G] NM_003458 BSN EXON Missense_R3444Q exm315461 3 49699665 [A/G] NM_003458 BSN EXON Missense_G3463S exm315471 3 49699875 [T/C] NM_003458 BSN EXON Missense_S3533P exm315474 3 49700310 [A/G] NM_003458 BSN EXON Synonymous_A3573A exm2273929 3 49700428 [A/G] NM_003458 BSN EXON Missense_A3613T exm315479 3 49700471 [T/G] NM_003458 BSN EXON Missense_G3627V exm315482 3 49700503 [T/C] NM_003458 BSN EXON Missense_R3638C exm2055466 3 49700579 [T/G] NM_003458 BSN EXON Missense_G3663V exm315509 3 49700875 [A/C] NM_003458 BSN EXON Missense_P3762T exm315513 3 49700912 [C/G] NM_003458 BSN EXON Missense_R3774P exm315518 3 49701076 [A/G] NM_003458 BSN EXON Missense_T3829A exm2055470 3 49701080 [A/G] NM_003458 BSN EXON Missense_G3830D exm315520 3 49701298 [A/G] NM_003458 BSN EXON Missense_A3863T exm2239788 3 49701871 [T/C] NM_003458 BSN EXON Missense_A3875V exm315523 3 49701910 [T/C] NM_003458 BSN EXON Missense_P3888L exm315559 3 49713866 [A/T] NM_001640 APEH EXON Missense_I221N exm315574 3 49714238 [C/G] NM_001640 APEH EXON Missense_G289R exm315580 3 49714395 [T/C] NM_001640 APEH EXON Missense_R313C exm315581 3 49715033 [C/G] NM_001640 APEH EXON Missense_V343L exm315584 3 49716286 [T/G] NM_001640 APEH EXON Missense_E354D exm315590 3 49716378 [A/G] NM_001640 APEH EXON Missense_R385Q exm315594 3 49718586 [T/C] NM_001640 APEH EXON Missense_S451F exm315596 3 49718631 [A/G] NM_001640 APEH EXON Missense_R466Q exm315597 3 49718643 [T/C] NM_001640 APEH EXON Missense_P470L exm315599 3 49719214 [A/G] NM_001640 APEH EXON Missense_V500M exm-rs9822268 3 49719729 [A/G] NM_001640 APEH Silent exm315608 3 49719799 [T/C] NM_001640 APEH EXON Missense_T541M exm315611 3 49720002 [C/G] NM_001640 APEH EXON Missense_Q572H exm315612 3 49720010 [A/G] NM_001640 APEH EXON Missense_H575R exm315643 3 49721532 [A/G] NM_020998 MST1 EXON Missense_R703C exm2239795 3 49722217 [C/G] NM_020998 MST1 EXON Missense_V575L exm315669 3 49722264 [T/G] NM_020998 MST1 EXON Missense_P559Q exm315789 3 49728870 [A/G] NM_022064 RNF123 EXON Missense_E32G exm315803 3 49735503 [T/C] NM_022064 RNF123 EXON Missense_V139A exm315806 3 49735541 [T/G] NM_022064 RNF123 EXON Missense_C152G exm315825 3 49736537 [T/C] NM_022064 RNF123 EXON Missense_R255C exm2239809 3 49736959 [A/G] NM_022064 RNF123 EXON Missense_A275T exm315848 3 49737660 [T/C] NM_022064 RNF123 EXON Missense_R329C exm315850 3 49737691 [T/C] NM_022064 RNF123 EXON Missense_M339T exm315855 3 49737954 [A/G] NM_022064 RNF123 EXON Missense_R387Q exm315867 3 49738949 [T/G] NM_022064 RNF123 EXON Missense_F435V exm315868 3 49738973 [T/C] NM_022064 RNF123 EXON Missense_R443C exm315871 3 49739000 [T/C] NM_022064 RNF123 EXON Missense_L452F exm315876 3 49739277 [A/G] NM_022064 RNF123 EXON Missense_A477T exm315878 3 49739286 [T/C] NM_022064 RNF123 EXON Missense_R480W exm315897 3 49740132 [T/C] NM_022064 RNF123 EXON Missense_R566C exm2239811 3 49740872 [T/C] NM_022064 RNF123 EXON Missense_P588L exm315900 3 49740895 [A/G] NM_022064 RNF123 EXON Missense_K596E exm315902 3 49740946 [T/C] NM_022064 RNF123 EXON Missense_R613W exm315929 3 49743014 [A/G] NM_022064 RNF123 EXON Missense_E736K exm315944 3 49749939 [G/C] NM_022064 RNF123 EXON Missense_L842V exm315945 3 49749942 [T/C] NM_022064 RNF123 EXON Missense_R843C exm315947 3 49749976 [A/G] NM_022064 RNF123 EXON Missense_R854H exm2055655 3 49751224 [A/T] NM_022064 RNF123 EXON Missense_S935T exm315966 3 49751230 [T/C] NM_022064 RNF123 EXON Missense_R937W exm315967 3 49751251 [A/G] NM_022064 RNF123 EXON Missense_E944K exm315979 3 49753044 [T/C] NM_022064 RNF123 EXON Missense_A1016V exm2055664 3 49753405 [T/C] NM_022064 RNF123 EXON Missense_R1101W exm315991 3 49753901 [T/C] NM_022064 RNF123 EXON Missense_P1164L exm315995 3 49755481 [A/G] NM_022064,NM_198722 RNF123,AMIGO3 EXON Silent,Missense_A473V exm315999 3 49755558 [G/C] NM_022064,NM_198722 RNF123,AMIGO3 EXON Silent,Missense_K447N exm316023 3 49756129 [A/G] NM_022064,NM_198722 RNF123,AMIGO3 EXON Silent,Missense_P257L exm316029 3 49756304 [A/C] NM_022064,NM_198722 RNF123,AMIGO3 EXON Silent,Missense_S199A exm316035 3 49756376 [C/G] NM_022064,NM_198722 RNF123,AMIGO3 EXON Silent,Missense_D175H exm316036 3 49756451 [T/C] NM_022064,NM_198722 RNF123,AMIGO3 EXON Silent,Missense_E150K exm316037 3 49756511 [T/C] NM_022064,NM_198722 RNF123,AMIGO3 EXON Silent,Missense_D130N exm316050 3 49756756 [A/G] NM_022064,NM_198722 RNF123,AMIGO3 EXON Silent,Missense_T48I exm316052 3 49756778 [T/C] NM_022064,NM_198722 RNF123,AMIGO3 EXON Silent,Missense_A41T exm316065 3 49758039 [G/C] NM_022064 RNF123 EXON Missense_G1199A exm316069 3 49758236 [T/C] NM_022064 RNF123 EXON Missense_A1216V exm2055701 3 49759220 [T/C] NM_013334,NM_021971 GMPPB,GMPPB EXON Missense_G377S,Missense_G350S exm316099 3 49759412 [A/G] NM_013334,NM_021971 GMPPB,GMPPB EXON Missense_R313C,Missense_R313C exm316101 3 49759462 [T/C] NM_013334,NM_021971 GMPPB,GMPPB EXON Missense_R296Q,Missense_R296Q exm316103 3 49759480 [A/G] NM_013334,NM_021971 GMPPB,GMPPB EXON Missense_T290M,Missense_T290M exm316128 3 49760039 [T/C] NM_013334,NM_021971 GMPPB,GMPPB EXON Missense_Q184R,Missense_Q184R exm316130 3 49760062 [T/G] NM_013334,NM_021971 GMPPB,GMPPB EXON Nonsense_Y176X,Nonsense_Y176X exm316131 3 49760065 [A/C] NM_013334,NM_021971 GMPPB,GMPPB EXON Missense_M175I,Missense_M175I exm316141 3 49760431 [C/G] NM_013334,NM_021971 GMPPB,GMPPB EXON Missense_H126D,Missense_H126D exm316148 3 49760875 [T/G] NM_013334,NM_021971 GMPPB,GMPPB EXON Missense_S54R,Missense_S54R exm316151 3 49761081 [C/G] NM_013334,NM_021971 GMPPB,GMPPB EXON Missense_D27H,Missense_D27H exm316162 3 49764824 [A/G] NM_153273,NM_001006115,NM_001242829 IP6K1,IP6K1,IP6K1 EXON Missense_R353W,Missense_R188W,Missense_R353W exm316170 3 49765013 [A/G] NM_153273,NM_001006115,NM_001242829 IP6K1,IP6K1,IP6K1 EXON Missense_R290C,Missense_R125C,Missense_R290C exm316200 3 49785430 [T/C] NM_153273,NM_001006115,NM_001242829 IP6K1,IP6K1,IP6K1 EXON Missense_N15S,Silent,Missense_N15S exm316201 3 49785440 [A/G] NM_153273,NM_001006115,NM_001242829 IP6K1,IP6K1,IP6K1 EXON Missense_Y12H,Silent,Missense_Y12H exm316222 3 49831032 [A/G] NM_001007540 CDHR4 EXON Missense_I536T exm316225 3 49831237 [A/G] NM_001007540 CDHR4 EXON Synonymous_S494S exm316232 3 49832638 [A/G] NM_001007540 CDHR4 EXON Missense_A341V exm316233 3 49832691 [A/C] NM_001007540 CDHR4 EXON Missense_N323K exm316236 3 49832788 [A/G] NM_001007540 CDHR4 EXON Missense_T291M exm2239817 3 49836267 [T/C] NM_001007540 CDHR4 EXON Missense_G163R exm2256064 3 49836292 [T/C] NM_001007540 CDHR4 EXON Synonymous_L154L exm2055747 3 49836736 [A/T] NM_001007540 CDHR4 EXON Missense_T62S exm316263 3 49836777 [A/G] NM_001007540 CDHR4 EXON Missense_T48M exm316291 3 49841876 [T/G] NM_203370 FAM212A EXON Missense_R107L exm316297 3 49841962 [A/G] NM_203370 FAM212A EXON Missense_M136V exm316299 3 49841993 [T/C] NM_203370 FAM212A EXON Missense_P146L exm316316 3 49842319 [T/C] NM_203370 FAM212A EXON Missense_R255C exm316318 3 49842325 [T/G] NM_203370 FAM212A EXON Nonsense_E257X exm316322 3 49842383 [A/G] NM_203370 FAM212A EXON Missense_R276H exm316326 3 49842818 [A/G] NM_003335 UBA7 EXON Missense_R988W exm316329 3 49843375 [A/G] NM_003335 UBA7 EXON Missense_A955V exm2055755 3 49843379 [A/G] NM_003335 UBA7 EXON Missense_Y954H exm316332 3 49843505 [C/G] NM_003335 UBA7 Silent exm316338 3 49843568 [A/G] NM_003335 UBA7 EXON Missense_R916C exm316341 3 49845170 [A/G] NM_003335 UBA7 EXON Missense_T905M exm316345 3 49845252 [A/G] NM_003335 UBA7 EXON Missense_R878C exm316358 3 49845526 [T/C] NM_003335 UBA7 EXON Missense_H817R exm2055771 3 49846412 [A/C] NM_003335 UBA7 EXON Missense_F782V exm316362 3 49846459 [T/G] NM_003335 UBA7 EXON Missense_A766D exm316364 3 49846552 [T/C] NM_003335 UBA7 EXON Missense_Y735C exm316371 3 49846852 [A/G] NM_003335 UBA7 EXON Missense_P712S exm2055784 3 49847428 [A/C] NM_003335 UBA7 EXON Missense_A608S exm316381 3 49847440 [A/G] NM_003335 UBA7 EXON Missense_F604L exm316388 3 49847614 [A/G] NM_003335 UBA7 EXON Missense_R546C exm316397 3 49847804 [T/C] NM_003335 UBA7 EXON Missense_V509M exm316402 3 49847982 [A/G] NM_003335 UBA7 EXON Missense_R479C exm316404 3 49847997 [A/G] NM_003335 UBA7 EXON Missense_R474C exm316419 3 49848470 [T/C] NM_003335 UBA7 EXON Missense_D393N exm2055802 3 49849325 [T/C] NM_003335 UBA7 EXON Missense_R306Q exm2256065 3 49849336 [A/G] NM_003335 UBA7 EXON Synonymous_H302H exm316438 3 49849871 [T/C] NM_003335 UBA7 EXON Missense_D222N exm316448 3 49850493 [A/G] NM_003335 UBA7 Silent exm316449 3 49850499 [T/C] NM_003335 UBA7 EXON Missense_V155M exm316450 3 49850508 [A/G] NM_003335 UBA7 EXON Missense_R152W exm316452 3 49850519 [A/G] NM_003335 UBA7 EXON Missense_A148V exm2239819 3 49850953 [A/G] NM_003335 UBA7 EXON Missense_H62Y exm316467 3 49851053 [A/C] NM_003335 UBA7 EXON Missense_Q28H exm316485 3 49866894 [A/C] NM_005879 TRAIP EXON Missense_Q428H exm316490 3 49867472 [A/G] NM_005879 TRAIP EXON Missense_I356T exm316496 3 49869455 [A/G] NM_005879 TRAIP EXON Missense_R311C exm316502 3 49869500 [A/G] NM_005879 TRAIP EXON Missense_P296S exm316503 3 49877220 [T/C] NM_005879 TRAIP EXON Missense_R290H exm316511 3 49879341 [T/C] NM_005879 TRAIP EXON Missense_E179K exm316513 3 49879917 [A/G] NM_005879 TRAIP EXON Missense_R158W exm2055839 3 49879919 [T/C] NM_005879 TRAIP EXON Missense_R157H exm316520 3 49881319 [T/C] NM_005879 TRAIP EXON Missense_R108Q exm316527 3 49881975 [T/C] NM_005879 TRAIP EXON Synonymous_K93K exm316539 3 49896944 [A/G] NM_024046 CAMKV EXON Missense_T438I exm316589 3 49924763 [A/T] NM_001244937,NM_002447 MST1R,MST1R EXON Missense_S1345T,Missense_S1394T exm2055878 3 49924777 [T/C] NM_001244937,NM_002447 MST1R,MST1R EXON Missense_R1340Q,Missense_R1389Q exm316593 3 49924789 [A/C] NM_001244937,NM_002447 MST1R,MST1R EXON Missense_G1336V,Missense_G1385V exm316601 3 49924940 [T/C] NM_001244937,NM_002447 MST1R,MST1R EXON Missense_R1286G,Missense_R1335G exm316608 3 49927459 [T/G] NM_001244937,NM_002447 MST1R,MST1R EXON Missense_T1233K,Missense_T1282K exm316641 3 49929221 [A/G] NM_001244937,NM_002447 MST1R,MST1R EXON Nonsense_R1059X,Nonsense_R1108X exm316659 3 49933163 [A/G] NM_001244937,NM_002447 MST1R,MST1R EXON Missense_R934W,Missense_R983W exm316660 3 49933175 [T/C] NM_001244937,NM_002447 MST1R,MST1R EXON Missense_S930G,Missense_S979G exm316664 3 49933228 [A/G] NM_001244937,NM_002447 MST1R,MST1R EXON Missense_I912T,Missense_I961T exm316665 3 49933240 [A/G] NM_001244937,NM_002447 MST1R,MST1R EXON Missense_T908M,Missense_T957M exm316692 3 49934059 [A/G] NM_001244937,NM_002447 MST1R,MST1R EXON Missense_H785Y,Missense_H785Y exm316694 3 49934174 [T/G] NM_001244937,NM_002447 MST1R,MST1R EXON Missense_N778T,Missense_N778T exm316696 3 49934193 [T/C] NM_001244937,NM_002447 MST1R,MST1R EXON Missense_V772M,Missense_V772M exm316701 3 49934714 [A/G] NM_001244937,NM_002447 MST1R,MST1R EXON Missense_R728W,Missense_R728W exm316703 3 49934772 [A/C] NM_001244937,NM_002447 MST1R,MST1R EXON Missense_S708R,Missense_S708R exm316708 3 49934828 [A/G] NM_001244937,NM_002447 MST1R,MST1R EXON Nonsense_Q690X,Nonsense_Q690X exm2055916 3 49934990 [A/C] NM_001244937,NM_002447 MST1R,MST1R EXON Missense_V670G,Missense_V670G exm316716 3 49935503 [A/T] NM_001244937,NM_002447 MST1R,MST1R EXON Nonsense_K621X,Nonsense_K621X exm316718 3 49935526 [T/G] NM_001244937,NM_002447 MST1R,MST1R EXON Missense_Q613P,Missense_Q613P exm316725 3 49935646 [T/C] NM_001244937,NM_002447 MST1R,MST1R Silent,Silent exm316726 3 49935976 [T/G] NM_001244937,NM_002447 MST1R,MST1R EXON Missense_D565A,Missense_D565A exm316730 3 49936067 [C/G] NM_001244937,NM_002447 MST1R,MST1R EXON Missense_R535G,Missense_R535G exm316732 3 49936102 [T/C] NM_001244937,NM_002447 MST1R,MST1R EXON Missense_Q523R,Missense_Q523R exm316745 3 49936608 [T/C] NM_001244937,NM_002447 MST1R,MST1R EXON Missense_N440S,Missense_N440S exm316748 3 49936626 [A/G] NM_001244937,NM_002447 MST1R,MST1R EXON Missense_S434L,Missense_S434L exm316751 3 49939814 [A/G] NM_001244937,NM_002447 MST1R,MST1R EXON Missense_P410L,Missense_P410L exm316753 3 49939850 [A/G] NM_001244937,NM_002447 MST1R,MST1R EXON Missense_L398P,Missense_L398P exm2275366 3 49939857 [A/G] NM_001244937,NM_002447 MST1R,MST1R EXON Nonsense_R396X,Nonsense_R396X exm316759 3 49939993 [T/A] NM_001244937,NM_002447 MST1R,MST1R EXON Missense_F350L,Missense_F350L exm2239824 3 49940064 [T/C] NM_001244937,NM_002447 MST1R,MST1R EXON Missense_A327T,Missense_A327T exm316763 3 49940078 [T/C] NM_001244937,NM_002447 MST1R,MST1R EXON Missense_R322Q,Missense_R322Q exm316768 3 49940156 [A/G] NM_001244937,NM_002447 MST1R,MST1R EXON Missense_L296P,Missense_L296P exm316773 3 49940207 [T/C] NM_001244937,NM_002447 MST1R,MST1R EXON Missense_R279H,Missense_R279H exm316776 3 49940238 [T/C] NM_001244937,NM_002447 MST1R,MST1R EXON Missense_V269M,Missense_V269M exm316792 3 49940517 [T/C] NM_001244937,NM_002447 MST1R,MST1R EXON Missense_D176N,Missense_D176N exm316802 3 49940820 [T/G] NM_001244937,NM_002447 MST1R,MST1R EXON Missense_R75S,Missense_R75S exm316804 3 49940889 [T/C] NM_001244937,NM_002447 MST1R,MST1R EXON Missense_G52R,Missense_G52R exm316830 3 49947766 [T/C] NM_001142501,NM_032355 MON1A,MON1A EXON Missense_T324A,Missense_T486A exm316838 3 49947954 [T/C] NM_001142501,NM_032355 MON1A,MON1A EXON Missense_R261H,Missense_R423H exm2256066 3 49949071 [A/G] NM_001142501,NM_032355 MON1A,MON1A EXON Silent,Synonymous_P264P exm316856 3 49949151 [T/C] NM_001142501,NM_032355 MON1A,MON1A EXON Silent,Missense_E238K exm316869 3 49949430 [T/C] NM_001142501,NM_032355 MON1A,MON1A EXON Silent,Missense_G145S exm316873 3 49950751 [T/C] NM_001142501,NM_032355 MON1A,MON1A EXON Missense_S107N,Missense_S107N exm-rs7613875 3 49971514 [A/C] exm316880 3 50000117 [T/C] NM_001167582,NM_005777 RBM6,RBM6 EXON Silent,Missense_R15C exm316884 3 50005037 [T/A] NM_001167582,NM_005777 RBM6,RBM6 EXON Silent,Missense_H60L exm316887 3 50005082 [A/G] NM_001167582,NM_005777 RBM6,RBM6 EXON Silent,Missense_Y75C exm2273933 3 50005146 [A/G] NM_001167582,NM_005777 RBM6,RBM6 EXON Silent,Synonymous_R96R exm316899 3 50005331 [A/G] NM_001167582,NM_005777 RBM6,RBM6 EXON Silent,Missense_R158K exm316905 3 50005373 [T/C] NM_001167582,NM_005777 RBM6,RBM6 EXON Silent,Missense_P172L exm316916 3 50005855 [A/G] NM_001167582,NM_005777 RBM6,RBM6 EXON Silent,Missense_E333K exm316918 3 50005916 [T/C] NM_001167582,NM_005777 RBM6,RBM6 EXON Silent,Missense_S353F exm316919 3 50006003 [T/C] NM_001167582,NM_005777 RBM6,RBM6 EXON Silent,Missense_A382V exm316921 3 50006026 [A/G] NM_001167582,NM_005777 RBM6,RBM6 EXON Silent,Missense_G390S exm316924 3 50006072 [A/C] NM_001167582,NM_005777 RBM6,RBM6 EXON Silent,Missense_E405A exm316939 3 50085708 [A/G] NM_001167582,NM_005777 RBM6,RBM6 EXON Missense_T8A,Missense_T530A exm316947 3 50091769 [A/G] NM_001167582,NM_005777 RBM6,RBM6 EXON Missense_C23Y,Missense_C545Y exm-rs6762477 3 50093209 [A/G] NM_001167582,NM_005777 RBM6,RBM6 Silent,Silent exm316967 3 50097113 [A/G] NM_001167582,NM_005777 RBM6,RBM6 EXON Missense_N199S,Missense_N721S exm316973 3 50098925 [T/C] NM_001167582,NM_005777 RBM6,RBM6 EXON Missense_A273V,Missense_A795V exm316983 3 50099500 [A/G] NM_001167582,NM_005777 RBM6,RBM6 EXON Missense_K327E,Missense_K849E exm316984 3 50099512 [A/G] NM_001167582,NM_005777 RBM6,RBM6 EXON Missense_K331E,Missense_K853E exm2256067 3 50103698 [T/C] NM_001167582,NM_005777 RBM6,RBM6 EXON Synonymous_I380I,Synonymous_I902I exm317003 3 50107915 [T/C] NM_001167582,NM_005777 RBM6,RBM6 EXON Missense_R494C,Missense_R1016C exm317004 3 50107916 [A/G] NM_001167582,NM_005777 RBM6,RBM6 EXON Missense_R494H,Missense_R1016H exm317012 3 50112710 [A/G] NM_001167582,NM_005777 RBM6,RBM6 EXON Missense_R543G,Missense_R1065G exm2239832 3 50114450 [T/C] NM_001167582,NM_005777 RBM6,RBM6 EXON Missense_R564W,Missense_R1086W exm317040 3 50131235 [A/C] NR_036627,NM_005778 RBM5,RBM5 EXON Silent,Missense_H89P exm317051 3 50141740 [T/C] NR_036627,NM_005778 RBM5,RBM5 EXON Silent,Synonymous_F209F exm317077 3 50147036 [T/G] NR_036627,NM_005778 RBM5,RBM5 EXON Silent,Missense_G398V exm317083 3 50147120 [T/C] NR_036627,NM_005778 RBM5,RBM5 EXON Silent,Missense_P426L exm317102 3 50151623 [T/C] NR_036627,NM_005778 RBM5,RBM5 EXON Silent,Missense_A593V exm317114 3 50154597 [A/G] NR_036627,NM_005778 RBM5,RBM5 EXON Silent,Missense_G729S exm-rs739983 3 50178011 [A/G] exm317134 3 50197110 [T/C] NM_004186 SEMA3F EXON Missense_S19P exm317149 3 50211487 [A/G] NM_004186 SEMA3F EXON Missense_I92M exm2056066 3 50211665 [T/G] NM_004186 SEMA3F EXON Missense_G113V exm317155 3 50211695 [A/G] NM_004186 SEMA3F EXON Missense_Q123R exm317164 3 50214207 [A/G] NM_004186 SEMA3F EXON Missense_I186V exm317202 3 50222142 [T/C] NM_004186 SEMA3F EXON Missense_R451W exm317203 3 50222143 [A/G] NM_004186 SEMA3F EXON Missense_R451Q exm317210 3 50222879 [A/G] NM_004186 SEMA3F EXON Missense_R487H exm317211 3 50222926 [T/A] NM_004186 SEMA3F EXON Missense_L503M exm317224 3 50224121 [T/C] NM_004186 SEMA3F EXON Missense_S630L exm2265446 3 50224225 [A/G] NM_004186 SEMA3F Silent exm317227 3 50225153 [A/C] NM_004186 SEMA3F EXON Missense_R655S exm317233 3 50225255 [A/G] NM_004186 SEMA3F EXON Missense_V689I exm317253 3 50229241 [A/G] NM_144499,NM_000172 GNAT1,GNAT1 EXON Missense_R28Q,Missense_R28Q exm317261 3 50230789 [A/G] NM_144499,NM_000172 GNAT1,GNAT1 EXON Missense_V81I,Missense_V81I exm317270 3 50231042 [T/G] NM_144499,NM_000172 GNAT1,GNAT1 EXON Missense_I132S,Missense_I132S exm2056124 3 50231244 [A/G] NM_144499,NM_000172 GNAT1,GNAT1 EXON Missense_V170M,Missense_V170M exm317295 3 50232321 [A/C] NM_144499,NM_000172 GNAT1,GNAT1 EXON Missense_K329T,Missense_K329T exm317315 3 50253005 [T/C] NM_006841 SLC38A3 EXON Missense_R135C exm317331 3 50255745 [A/G] NM_006841 SLC38A3 EXON Missense_A327T exm317360 3 50289947 [A/G] NM_002070,NM_001166425 GNAI2,GNAI2 EXON Missense_D94N,Missense_D57N exm317362 3 50289969 [T/C] NM_002070,NM_001166425 GNAI2,GNAI2 EXON Missense_A101V,Missense_A64V exm2056169 3 50290531 [A/G] NM_002070,NM_001166425 GNAI2,GNAI2 EXON Missense_V127I,Missense_V90I exm2261509 3 50291785 [A/G] NM_002070,NM_001166425 GNAI2,GNAI2 Silent,Silent exm317409 3 50307645 [A/G] NM_004636,NM_001005914 SEMA3B,SEMA3B EXON Missense_A66T,Missense_A66T exm317416 3 50307896 [A/G] NM_004636,NM_001005914 SEMA3B,SEMA3B EXON Missense_R100K,Missense_R100K exm317425 3 50308568 [A/G] NM_004636,NM_001005914 SEMA3B,SEMA3B EXON Missense_R167G,Missense_R167G exm317428 3 50308808 [A/C] NM_004636,NM_001005914 SEMA3B,SEMA3B EXON Missense_Q187P,Missense_Q187P exm317435 3 50310753 [T/G] NM_004636,NM_001005914 SEMA3B,SEMA3B EXON Nonsense_G230X,Nonsense_G230X exm317436 3 50310769 [T/G] NM_004636,NM_001005914 SEMA3B,SEMA3B EXON Missense_R235I,Missense_R235I exm317439 3 50310836 [C/G] NM_004636,NM_001005914 SEMA3B,SEMA3B EXON Missense_W257C,Missense_W257C exm317445 3 50311342 [A/G] NM_004636,NM_001005914 SEMA3B,SEMA3B Silent,Silent exm317449 3 50311476 [A/G] NM_004636,NM_001005914 SEMA3B,SEMA3B EXON Missense_R375H,Missense_R374H exm317458 3 50311986 [A/C] NM_004636,NM_001005914 SEMA3B,SEMA3B EXON Missense_D443E,Missense_D442E exm2239837 3 50312295 [T/C] NM_004636,NM_001005914 SEMA3B,SEMA3B EXON Missense_X460R,Missense_X459R exm317472 3 50312774 [T/C] NM_004636,NM_001005914 SEMA3B,SEMA3B EXON Missense_S511L,Missense_S510L exm317474 3 50312822 [T/C] NM_004636,NM_001005914 SEMA3B,SEMA3B EXON Missense_V527A,Missense_V526A exm317512 3 50324164 [A/G] NM_153215 C3orf45 EXON Missense_V78I exm317515 3 50324185 [T/G] NM_153215 C3orf45 EXON Missense_A85S exm317516 3 50324215 [T/C] NM_153215 C3orf45 EXON Nonsense_R95X exm317519 3 50324269 [A/G] NM_153215 C3orf45 EXON Missense_A113T exm317521 3 50324292 [T/C] NM_153215 C3orf45 EXON Synonymous_S120S exm317530 3 50325638 [T/C] NM_006764 IFRD2 EXON Missense_R502Q exm317545 3 50326091 [T/C] NM_006764 IFRD2 EXON Missense_M423V exm317553 3 50326254 [A/G] NM_006764 IFRD2 EXON Missense_R398C exm317554 3 50326292 [T/C] NM_006764 IFRD2 EXON Missense_R385H exm317556 3 50326304 [T/C] NM_006764 IFRD2 EXON Missense_S381N exm317558 3 50326320 [T/C] NM_006764 IFRD2 EXON Missense_T376A exm317559 3 50326342 [T/C] NM_006764 IFRD2 EXON Synonymous_E368E exm2256069 3 50326342 [T/C] NM_006764 IFRD2 EXON Synonymous_E368E exm317560 3 50326353 [T/C] NM_006764 IFRD2 EXON Missense_E365K exm317563 3 50326729 [T/C] NM_006764 IFRD2 EXON Missense_G345D exm317565 3 50326741 [T/C] NM_006764 IFRD2 EXON Missense_R341Q exm317576 3 50326986 [A/C] NM_006764 IFRD2 EXON Missense_S288I exm317579 3 50327010 [T/C] NM_006764 IFRD2 EXON Missense_Y280C exm317589 3 50327642 [T/C] NM_006764 IFRD2 EXON Missense_R180H exm317601 3 50327845 [C/G] NM_006764 IFRD2 EXON Missense_E143D exm317603 3 50327903 [G/C] NM_006764 IFRD2 EXON Missense_G124A exm317607 3 50328060 [A/C] NM_006764 IFRD2 EXON Missense_A101S exm317622 3 50329885 [T/A] NM_006764 IFRD2 EXON Missense_S5T exm317636 3 50330813 [C/G] NM_001200029,NM_001200030,NM_001200031,NM_003549,NM_001200032 HYAL3,HYAL3,HYAL3,HYAL3,HYAL3 EXON Missense_G373A,Missense_G343A,Missense_G124A,Missense_G373A,Missense_G94A exm317638 3 50330825 [T/C] NM_001200029,NM_001200030,NM_001200031,NM_003549,NM_001200032 HYAL3,HYAL3,HYAL3,HYAL3,HYAL3 EXON Missense_R369Q,Missense_R339Q,Missense_R120Q,Missense_R369Q,Missense_R90Q exm317641 3 50330890 [C/G] NM_001200029,NM_001200030,NM_001200031,NM_003549,NM_001200032 HYAL3,HYAL3,HYAL3,HYAL3,HYAL3 EXON Missense_I347M,Missense_I317M,Missense_I98M,Missense_I347M,Missense_I68M exm317646 3 50331101 [T/C] NM_001200029,NM_001200030,NM_001200031,NM_003549,NM_001200032 HYAL3,HYAL3,HYAL3,HYAL3,HYAL3 EXON Missense_V316M,Silent,Missense_V67M,Missense_V316M,Silent exm317647 3 50331107 [T/C] NM_001200029,NM_001200030,NM_001200031,NM_003549,NM_001200032 HYAL3,HYAL3,HYAL3,HYAL3,HYAL3 EXON Missense_A314T,Silent,Missense_A65T,Missense_A314T,Silent exm317648 3 50331133 [A/G] NM_001200029,NM_001200030,NM_001200031,NM_003549,NM_001200032 HYAL3,HYAL3,HYAL3,HYAL3,HYAL3 EXON Missense_I305T,Silent,Missense_I56T,Missense_I305T,Silent exm317661 3 50332262 [T/C] NM_001200029,NM_001200030,NM_001200031,NM_003549,NM_001200032 HYAL3,HYAL3,HYAL3,HYAL3,HYAL3 EXON Missense_A258T,Missense_A258T,Missense_A9T,Missense_A258T,Missense_A9T exm317664 3 50332355 [A/G] NM_001200029,NM_001200030,NM_001200031,NM_003549,NM_001200032 HYAL3,HYAL3,HYAL3,HYAL3,HYAL3 EXON Missense_R227C,Missense_R227C,Silent,Missense_R227C,Silent exm317665 3 50332378 [T/C] NM_001200029,NM_001200030,NM_001200031,NM_003549,NM_001200032 HYAL3,HYAL3,HYAL3,HYAL3,HYAL3 EXON Missense_R219H,Missense_R219H,Silent,Missense_R219H,Silent exm317674 3 50332460 [A/G] NM_001200029,NM_001200030,NM_001200031,NM_003549,NM_001200032 HYAL3,HYAL3,HYAL3,HYAL3,HYAL3 EXON Missense_R192W,Missense_R192W,Silent,Missense_R192W,Silent exm317676 3 50332477 [A/C] NM_001200029,NM_001200030,NM_001200031,NM_003549,NM_001200032 HYAL3,HYAL3,HYAL3,HYAL3,HYAL3 EXON Missense_R186L,Missense_R186L,Silent,Missense_R186L,Silent exm317678 3 50332501 [T/C] NM_001200029,NM_001200030,NM_001200031,NM_003549,NM_001200032 HYAL3,HYAL3,HYAL3,HYAL3,HYAL3 EXON Missense_R178H,Missense_R178H,Silent,Missense_R178H,Silent exm317685 3 50332612 [T/C] NM_001200029,NM_001200030,NM_001200031,NM_003549,NM_001200032 HYAL3,HYAL3,HYAL3,HYAL3,HYAL3 EXON Missense_R141H,Missense_R141H,Silent,Missense_R141H,Silent exm317688 3 50332697 [A/G] NM_001200029,NM_001200030,NM_001200031,NM_003549,NM_001200032 HYAL3,HYAL3,HYAL3,HYAL3,HYAL3 EXON Missense_H113Y,Missense_H113Y,Silent,Missense_H113Y,Silent exm317698 3 50332888 [T/G] NM_001200029,NM_001200030,NM_001200031,NM_003549,NM_001200032 HYAL3,HYAL3,HYAL3,HYAL3,HYAL3 EXON Missense_H49P,Missense_H49P,Silent,Missense_H49P,Silent exm317708 3 50334066 [A/G] NM_001200029,NM_001200030,NM_001200031,NM_003549,NM_001200032,NM_012191,NM_001200018,NM_001200016 HYAL3,HYAL3,HYAL3,HYAL3,HYAL3,NAT6,NAT6,NAT6 EXON Silent,Silent,Silent,Silent,Silent,Missense_R299C,Missense_R277C,Missense_R277C exm317716 3 50334116 [T/C] NM_001200029,NM_001200030,NM_001200031,NM_003549,NM_001200032,NM_012191,NM_001200018,NM_001200016 HYAL3,HYAL3,HYAL3,HYAL3,HYAL3,NAT6,NAT6,NAT6 EXON Silent,Silent,Silent,Silent,Silent,Missense_G282E,Missense_G260E,Missense_G260E exm317719 3 50334162 [C/G] NM_001200029,NM_001200030,NM_001200031,NM_003549,NM_001200032,NM_012191,NM_001200018,NM_001200016 HYAL3,HYAL3,HYAL3,HYAL3,HYAL3,NAT6,NAT6,NAT6 EXON Silent,Silent,Silent,Silent,Silent,Missense_P267A,Missense_P245A,Missense_P245A exm317726 3 50334239 [T/C] NM_001200029,NM_001200030,NM_001200031,NM_003549,NM_001200032,NM_012191,NM_001200018,NM_001200016 HYAL3,HYAL3,HYAL3,HYAL3,HYAL3,NAT6,NAT6,NAT6 EXON Silent,Silent,Silent,Silent,Silent,Missense_R241Q,Missense_R219Q,Missense_R219Q exm317728 3 50334275 [G/C] NM_001200029,NM_001200030,NM_001200031,NM_003549,NM_001200032,NM_012191,NM_001200018,NM_001200016 HYAL3,HYAL3,HYAL3,HYAL3,HYAL3,NAT6,NAT6,NAT6 EXON Silent,Silent,Silent,Silent,Silent,Missense_T229S,Missense_T207S,Missense_T207S exm317734 3 50334462 [A/G] NM_001200029,NM_001200030,NM_001200031,NM_003549,NM_001200032,NM_012191,NM_001200018,NM_001200016 HYAL3,HYAL3,HYAL3,HYAL3,HYAL3,NAT6,NAT6,NAT6 EXON Silent,Silent,Silent,Silent,Silent,Missense_R167W,Missense_R145W,Missense_R145W exm317736 3 50334512 [T/C] NM_001200029,NM_001200030,NM_001200031,NM_003549,NM_001200032,NM_012191,NM_001200018,NM_001200016 HYAL3,HYAL3,HYAL3,HYAL3,HYAL3,NAT6,NAT6,NAT6 EXON Silent,Silent,Silent,Silent,Silent,Missense_R150Q,Missense_R128Q,Missense_R128Q exm317741 3 50334633 [T/C] NM_001200029,NM_001200030,NM_001200031,NM_003549,NM_001200032,NM_012191,NM_001200018,NM_001200016 HYAL3,HYAL3,HYAL3,HYAL3,HYAL3,NAT6,NAT6,NAT6 EXON Silent,Silent,Silent,Silent,Silent,Missense_T110A,Missense_T88A,Missense_T88A exm2239842 3 50336292 [A/G] NM_001200029,NM_001200030,NM_001200031,NM_003549,NM_001200032,NM_012191,NM_001200018,NM_001200016 HYAL3,HYAL3,HYAL3,HYAL3,HYAL3,NAT6,NAT6,NAT6 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm317762 3 50337932 [G/C] NM_153282,NM_153285,NM_033159,NR_047690,NM_153283,NM_153281 HYAL1,HYAL1,HYAL1,HYAL1,HYAL1,HYAL1 EXON Missense_E400D,Missense_E171D,Missense_E430D,Silent,Missense_E248D,Missense_E430D exm317763 3 50337945 [C/G] NM_153282,NM_153285,NM_033159,NR_047690,NM_153283,NM_153281 HYAL1,HYAL1,HYAL1,HYAL1,HYAL1,HYAL1 EXON Missense_A396G,Missense_A167G,Missense_A426G,Silent,Missense_A244G,Missense_A426G exm317769 3 50338047 [A/G] NM_153282,NM_153285,NM_033159,NR_047690,NM_153283,NM_153281 HYAL1,HYAL1,HYAL1,HYAL1,HYAL1,HYAL1 EXON Missense_T362M,Missense_T133M,Missense_T392M,Silent,Missense_T210M,Missense_T392M exm317792 3 50339576 [T/C] NM_153282,NM_153285,NM_033159,NR_047690,NM_153283,NM_153281 HYAL1,HYAL1,HYAL1,HYAL1,HYAL1,HYAL1 EXON Missense_R271H,Missense_R12H,Missense_R271H,Silent,Missense_R89H,Missense_R271H exm317799 3 50339622 [T/C] NM_153282,NM_153285,NM_033159,NR_047690,NM_153283,NM_153281 HYAL1,HYAL1,HYAL1,HYAL1,HYAL1,HYAL1 EXON Missense_G256R,Silent,Missense_G256R,Silent,Missense_G74R,Missense_G256R exm317802 3 50339643 [A/G] NM_153282,NM_153285,NM_033159,NR_047690,NM_153283,NM_153281 HYAL1,HYAL1,HYAL1,HYAL1,HYAL1,HYAL1 EXON Missense_P249S,Silent,Missense_P249S,Silent,Missense_P67S,Missense_P249S exm317805 3 50339709 [T/C] NM_153282,NM_153285,NM_033159,NR_047690,NM_153283,NM_153281 HYAL1,HYAL1,HYAL1,HYAL1,HYAL1,HYAL1 EXON Missense_A227T,Silent,Missense_A227T,Silent,Missense_A45T,Missense_A227T exm317813 3 50339802 [A/G] NM_153282,NM_153285,NM_033159,NR_047690,NM_153283,NM_153281 HYAL1,HYAL1,HYAL1,HYAL1,HYAL1,HYAL1 EXON Missense_R196C,Silent,Missense_R196C,Silent,Missense_R14C,Missense_R196C exm317816 3 50339817 [A/G] NM_153282,NM_153285,NM_033159,NR_047690,NM_153283,NM_153281 HYAL1,HYAL1,HYAL1,HYAL1,HYAL1,HYAL1 EXON Missense_R191W,Silent,Missense_R191W,Silent,Missense_R9W,Missense_R191W exm317824 3 50340065 [T/C] NM_153282,NM_153285,NM_033159,NR_047690,NM_153283,NM_153281 HYAL1,HYAL1,HYAL1,HYAL1,HYAL1,HYAL1 EXON Missense_R108H,Silent,Missense_R108H,Silent,Silent,Missense_R108H exm317826 3 50340118 [G/C] NM_153282,NM_153285,NM_033159,NR_047690,NM_153283,NM_153281 HYAL1,HYAL1,HYAL1,HYAL1,HYAL1,HYAL1 EXON Missense_E90D,Silent,Missense_E90D,Silent,Silent,Missense_E90D exm317839 3 50340374 [A/G] NM_153282,NM_153285,NM_033159,NR_047690,NM_153283,NM_153281 HYAL1,HYAL1,HYAL1,HYAL1,HYAL1,HYAL1 EXON Missense_L5P,Silent,Missense_L5P,Silent,Silent,Missense_L5P exm-rs11130248 3 50352200 [A/G] exm317851 3 50355730 [T/G] NM_033158,NM_003773 HYAL2,HYAL2 EXON Missense_I418L,Missense_I418L exm317918 3 50368091 [T/C] NM_007182,NM_170712,NM_170713,NM_001206957,NM_170714 RASSF1,RASSF1,RASSF1,RASSF1,RASSF1 EXON Missense_H315R,Missense_H164R,Missense_H245R,Missense_H164R,Missense_H319R exm317925 3 50368842 [A/G] NM_007182,NM_170712,NM_170713,NM_001206957,NM_170714 RASSF1,RASSF1,RASSF1,RASSF1,RASSF1 EXON Missense_R267W,Missense_R116W,Missense_R197W,Missense_R116W,Missense_R271W exm317926 3 50368871 [T/C] NM_007182,NM_170712,NM_170713,NM_001206957,NM_170714 RASSF1,RASSF1,RASSF1,RASSF1,RASSF1 EXON Missense_R257Q,Missense_R106Q,Missense_R187Q,Missense_R106Q,Missense_R261Q exm317931 3 50369010 [T/C] NM_007182,NM_170712,NM_170713,NM_001206957,NM_170714 RASSF1,RASSF1,RASSF1,RASSF1,RASSF1 EXON Missense_R247H,Missense_R96H,Missense_R177H,Missense_R96H,Missense_R251H exm317933 3 50369058 [T/C] NM_007182,NM_170712,NM_170713,NM_001206957,NM_170714 RASSF1,RASSF1,RASSF1,RASSF1,RASSF1 EXON Missense_R231Q,Missense_R80Q,Missense_R161Q,Missense_R80Q,Missense_R235Q exm317938 3 50369169 [T/C] NM_007182,NM_170712,NM_170713,NM_001206957,NM_170714 RASSF1,RASSF1,RASSF1,RASSF1,RASSF1 EXON Missense_R194Q,Missense_R43Q,Missense_R124Q,Missense_R43Q,Missense_R198Q exm317944 3 50369236 [A/G] NM_007182,NM_170712,NM_170713,NM_001206957,NM_170714 RASSF1,RASSF1,RASSF1,RASSF1,RASSF1 EXON Missense_R172C,Missense_R21C,Missense_R102C,Missense_R21C,Missense_R176C exm317947 3 50369495 [C/G] NM_007182,NM_170712,NM_170713,NM_001206957,NM_170714 RASSF1,RASSF1,RASSF1,RASSF1,RASSF1 EXON Missense_L150V,Silent,Missense_L80V,Silent,Missense_L154V exm317950 3 50369546 [A/C] NM_007182,NM_170712,NM_170713,NM_001206957,NM_170714 RASSF1,RASSF1,RASSF1,RASSF1,RASSF1 EXON Missense_A133S,Silent,Missense_A63S,Silent,Missense_A137S exm317952 3 50369556 [G/C] NM_007182,NM_170712,NM_170713,NM_001206957,NM_170714 RASSF1,RASSF1,RASSF1,RASSF1,RASSF1 EXON Missense_D129E,Silent,Missense_D59E,Silent,Missense_D133E exm317964 3 50374735 [A/C] NM_007182,NM_170712,NM_170713,NM_001206957,NM_170714 RASSF1,RASSF1,RASSF1,RASSF1,RASSF1 EXON Silent,Silent,Missense_A6S,Silent,Silent exm317985 3 50379081 [A/G] NM_015896 ZMYND10 EXON Missense_R391W exm317992 3 50379257 [A/G] NM_015896 ZMYND10 EXON Missense_R369W exm317994 3 50379289 [T/C] NM_015896 ZMYND10 EXON Missense_Q358R exm318002 3 50379475 [T/G] NM_015896 ZMYND10 EXON Missense_P324T exm318008 3 50379904 [A/G] NM_015896 ZMYND10 EXON Missense_L266P exm318011 3 50379973 [T/C] NM_015896 ZMYND10 EXON Missense_R243H exm318012 3 50379974 [A/G] NM_015896 ZMYND10 EXON Missense_R243C exm318015 3 50379980 [T/C] NM_015896 ZMYND10 EXON Missense_G241S exm318018 3 50380360 [T/C] NM_015896 ZMYND10 EXON Missense_R230Q exm318021 3 50380412 [A/G] NM_015896 ZMYND10 EXON Missense_H213Y exm2056332 3 50380438 [T/C] NM_015896 ZMYND10 EXON Missense_S204N exm318026 3 50380574 [A/G] NM_015896 ZMYND10 EXON Missense_R192C exm318046 3 50381231 [G/C] NM_015896 ZMYND10 EXON Missense_K84N exm318057 3 50382964 [A/C] NM_015896 ZMYND10 EXON Missense_V16G exm318077 3 50386159 [C/G] NM_006545 NPRL2 EXON Missense_D214H exm318087 3 50386411 [A/G] NM_006545 NPRL2 EXON Missense_I160T exm318096 3 50387257 [T/C] NM_006545 NPRL2 EXON Missense_M60V exm318104 3 50388069 [G/C] NM_006545 NPRL2 EXON Missense_C5W exm318115 3 50389477 [T/C] NM_007022 CYB561D2 EXON Synonymous_A55A exm318122 3 50390723 [G/C] NM_007022 CYB561D2 EXON Missense_L73V exm318125 3 50390750 [T/C] NM_007022 CYB561D2 EXON Nonsense_R82X exm318126 3 50390756 [T/C] NM_007022 CYB561D2 EXON Missense_R84C exm318132 3 50390861 [T/C] NM_007022 CYB561D2 EXON Missense_R119W exm318134 3 50390897 [A/G] NM_007022 CYB561D2 EXON Missense_A131T exm318138 3 50390951 [T/C] NM_007022 CYB561D2 EXON Nonsense_R149X exm2056364 3 50391017 [A/G] NM_007022 CYB561D2 EXON Missense_S171G exm318146 3 50391083 [T/A] NM_007022 CYB561D2 EXON Missense_Y193N exm318148 3 50391092 [A/G] NM_007022 CYB561D2 EXON Missense_V196I exm318150 3 50391167 [T/C] NM_007022 CYB561D2 EXON Nonsense_Q221X exm318152 3 50392847 [A/G] NM_007024 TMEM115 EXON Missense_P328L exm2056366 3 50392955 [T/C] NM_007024 TMEM115 EXON Missense_N292S exm318162 3 50395827 [C/G] NM_007024 TMEM115 EXON Missense_A223G exm318163 3 50395926 [T/G] NM_007024 TMEM115 EXON Missense_A190E exm318165 3 50395948 [G/C] NM_007024 TMEM115 EXON Missense_A183P exm318167 3 50395984 [T/C] NM_007024 TMEM115 EXON Missense_M171V exm318209 3 50402850 [T/C] NM_001174051,NM_001005505,NM_006030 CACNA2D2,CACNA2D2,CACNA2D2 EXON Missense_Q1019R,Missense_Q1012R,Missense_Q1012R exm318212 3 50402890 [A/G] NM_001174051,NM_001005505,NM_006030 CACNA2D2,CACNA2D2,CACNA2D2 EXON Missense_P1006S,Missense_P999S,Missense_P999S exm318221 3 50403503 [T/C] NM_001174051,NM_001005505,NM_006030 CACNA2D2,CACNA2D2,CACNA2D2 EXON Missense_Q941R,Missense_Q934R,Missense_Q934R exm318245 3 50407767 [T/C] NM_001174051,NM_001005505,NM_006030 CACNA2D2,CACNA2D2,CACNA2D2 EXON Missense_V684I,Missense_V677I,Missense_V677I exm318252 3 50413290 [T/C] NM_001174051,NM_001005505,NM_006030 CACNA2D2,CACNA2D2,CACNA2D2 EXON Missense_G599S,Missense_G599S,Missense_G599S exm318308 3 50421734 [A/G] NM_001174051,NM_001005505,NM_006030 CACNA2D2,CACNA2D2,CACNA2D2 EXON Missense_S182F,Missense_S182F,Missense_S182F exm318312 3 50425007 [T/C] NM_001174051,NM_001005505,NM_006030 CACNA2D2,CACNA2D2,CACNA2D2 EXON Missense_A168T,Missense_A168T,Missense_A168T exm318315 3 50431560 [A/G] NM_001174051,NM_001005505,NM_006030 CACNA2D2,CACNA2D2,CACNA2D2 EXON Missense_R149C,Missense_R149C,Missense_R149C exm318318 3 50471758 [T/C] NM_001174051,NM_001005505,NM_006030 CACNA2D2,CACNA2D2,CACNA2D2 EXON Missense_V131M,Missense_V131M,Missense_V131M exm318325 3 50513553 [T/C] NM_001174051,NM_001005505,NM_006030 CACNA2D2,CACNA2D2,CACNA2D2 EXON Missense_R95H,Missense_R95H,Missense_R95H exm318326 3 50513566 [T/C] NM_001174051,NM_001005505,NM_006030 CACNA2D2,CACNA2D2,CACNA2D2 EXON Missense_V91I,Missense_V91I,Missense_V91I exm318332 3 50513613 [T/C] NM_001174051,NM_001005505,NM_006030 CACNA2D2,CACNA2D2,CACNA2D2 EXON Missense_R75Q,Missense_R75Q,Missense_R75Q exm2275277 3 50513629 [T/C] NM_001174051,NM_001005505,NM_006030 CACNA2D2,CACNA2D2,CACNA2D2 EXON Missense_M70V,Missense_M70V,Missense_M70V exm318336 3 50597092 [A/G] NM_016210,NM_001171741,NM_001171740,NM_001171743 C3orf18,C3orf18,C3orf18,C3orf18 EXON Missense_A162V,Missense_A162V,Missense_A162V,Missense_A142V exm318347 3 50598400 [T/C] NM_016210,NM_001171741,NM_001171740,NM_001171743 C3orf18,C3orf18,C3orf18,C3orf18 EXON Missense_R119Q,Missense_R119Q,Missense_R119Q,Missense_R99Q exm318351 3 50598481 [T/C] NM_016210,NM_001171741,NM_001171740,NM_001171743 C3orf18,C3orf18,C3orf18,C3orf18 EXON Missense_R92H,Missense_R92H,Missense_R92H,Missense_R72H exm318352 3 50598482 [A/G] NM_016210,NM_001171741,NM_001171740,NM_001171743 C3orf18,C3orf18,C3orf18,C3orf18 EXON Missense_R92C,Missense_R92C,Missense_R92C,Missense_R72C exm318362 3 50603097 [A/C] NM_016210,NM_001171741,NM_001171740,NM_001171743 C3orf18,C3orf18,C3orf18,C3orf18 EXON Missense_F12V,Missense_F12V,Missense_F12V,Missense_F12V exm318371 3 50608659 [A/G] NM_016173 HEMK1 EXON Missense_I42V exm318388 3 50609625 [T/C] NM_016173 HEMK1 EXON Missense_R134W exm318396 3 50614965 [A/G] NM_016173 HEMK1 EXON Missense_R192Q exm318398 3 50614990 [T/G] NM_016173 HEMK1 EXON Missense_H200Q exm318400 3 50615262 [A/G] NM_016173 HEMK1 EXON Missense_R207Q exm2265447 3 50615539 [A/G] NM_016173 HEMK1 Silent exm318416 3 50617609 [A/G] NM_016173 HEMK1 EXON Missense_R310Q exm2056462 3 50617641 [T/C] NM_016173 HEMK1 EXON Missense_R321C exm318426 3 50645081 [T/C] NM_145071,NM_013324 CISH,CISH EXON Missense_R245Q,Missense_R262Q exm318428 3 50645106 [T/C] NM_145071,NM_013324 CISH,CISH EXON Missense_D237N,Missense_D254N exm2256071 3 50645146 [T/C] NM_145071,NM_013324 CISH,CISH EXON Synonymous_L223L,Synonymous_L240L exm318431 3 50645153 [T/C] NM_145071,NM_013324 CISH,CISH EXON Missense_R221H,Missense_R238H exm318440 3 50645286 [T/C] NM_145071,NM_013324 CISH,CISH EXON Missense_D177N,Missense_D194N exm318448 3 50645387 [T/C] NM_145071,NM_013324 CISH,CISH EXON Missense_N143S,Missense_N160S exm2256072 3 50645413 [A/G] NM_145071,NM_013324 CISH,CISH EXON Synonymous_A134A,Synonymous_A151A exm318453 3 50645445 [A/G] NM_145071,NM_013324 CISH,CISH EXON Missense_R124C,Missense_R141C exm318467 3 50645812 [T/C] NM_145071,NM_013324 CISH,CISH EXON Missense_R78Q,Missense_R95Q exm2239862 3 50645893 [T/G] NM_145071,NM_013324 CISH,CISH EXON Missense_P51Q,Missense_P68Q exm2056471 3 50645911 [T/A] NM_145071,NM_013324 CISH,CISH EXON Missense_E45V,Missense_E62V exm318480 3 50655025 [A/G] NM_001243926,NM_004635,NM_001243925 MAPKAPK3,MAPKAPK3,MAPKAPK3 EXON Missense_G10E,Missense_G10E,Missense_G10E exm318489 3 50655190 [T/G] NM_001243926,NM_004635,NM_001243925 MAPKAPK3,MAPKAPK3,MAPKAPK3 EXON Missense_R65L,Missense_R65L,Missense_R65L exm318518 3 50816121 [A/G] NM_004947 DOCK3 EXON Missense_R18Q exm-rs13088462 3 51071713 [T/C] NM_004947 DOCK3 Silent exm318529 3 51101887 [A/C] NM_004947 DOCK3 EXON Missense_K108N exm318531 3 51101958 [A/G] NM_004947 DOCK3 EXON Missense_G132D exm2256073 3 51248198 [A/G] NM_004947 DOCK3 Silent exm318553 3 51251601 [A/G] NM_004947 DOCK3 EXON Missense_R392Q exm318567 3 51266985 [A/G] NM_004947 DOCK3 EXON Missense_R621Q exm318573 3 51274967 [A/G] NM_004947 DOCK3 EXON Missense_R683Q exm318582 3 51308421 [A/G] NM_004947 DOCK3 EXON Missense_R844H exm318584 3 51312518 [T/C] NM_004947 DOCK3 EXON Missense_R853C exm318600 3 51367600 [C/G] NM_004947 DOCK3 EXON Missense_S1145T exm318611 3 51378717 [C/G] NM_004947 DOCK3 EXON Missense_D1272E exm318616 3 51378788 [A/G] NM_004947 DOCK3 EXON Missense_K1296R exm2256074 3 51386327 [A/G] NM_004947 DOCK3 EXON Synonymous_Q1320Q exm2056570 3 51386327 [A/G] NM_004947 DOCK3 EXON Synonymous_Q1320Q exm318632 3 51393595 [T/C] NM_004947 DOCK3 EXON Missense_V1442A exm318649 3 51399303 [T/A] NM_004947 DOCK3 EXON Missense_M1674L exm318652 3 51399378 [T/G] NM_004947 DOCK3 EXON Missense_G1699C exm318654 3 51399421 [A/G] NM_004947 DOCK3 EXON Missense_H1713R exm318659 3 51400000 [A/G] NM_004947 DOCK3 EXON Missense_V1730I exm318670 3 51413183 [T/C] NM_004947 DOCK3 EXON Missense_P1806L exm2269623 3 51416368 [T/C] NM_004947 DOCK3 Silent exm318677 3 51418611 [T/C] NM_004947 DOCK3 EXON Missense_S1905L exm318703 3 51423690 [A/T] NM_006010 MANF EXON Missense_V49D exm318705 3 51423699 [T/C] NM_006010 MANF EXON Missense_S52L exm318711 3 51426347 [A/G] NM_006010 MANF EXON Missense_D126N exm318721 3 51429281 [T/C] NM_013286 RBM15B EXON Missense_P151S exm318733 3 51429787 [A/C] NM_013286 RBM15B EXON Nonsense_Y319X exm318736 3 51429881 [A/G] NM_013286 RBM15B EXON Missense_V351M exm318746 3 51430276 [A/C] NM_013286 RBM15B EXON Missense_D482E exm318760 3 51430581 [A/G] NM_013286 RBM15B EXON Missense_R584H exm318761 3 51430631 [A/G] NM_013286 RBM15B EXON Missense_S601G exm318778 3 51430930 [T/G] NM_013286 RBM15B EXON Missense_E700D exm318812 3 51452176 [A/G] NM_001171904,NM_014703 VPRBP,VPRBP EXON Missense_R1193C,Missense_R1194C exm318815 3 51454241 [A/G] NM_001171904,NM_014703 VPRBP,VPRBP EXON Synonymous_H1147H,Synonymous_H1148H exm318860 3 51458414 [T/G] NM_001171904,NM_014703 VPRBP,VPRBP EXON Missense_F616L,Missense_F617L exm318866 3 51466720 [A/G] NM_001171904,NM_014703 VPRBP,VPRBP EXON Missense_P503L,Missense_P504L exm318874 3 51467517 [A/G] NM_001171904,NM_014703 VPRBP,VPRBP EXON Missense_R425C,Missense_R426C exm318892 3 51475619 [T/C] NM_001171904,NM_014703 VPRBP,VPRBP EXON Missense_A269T,Missense_A270T exm318894 3 51475699 [A/G] NM_001171904,NM_014703 VPRBP,VPRBP EXON Missense_L242P,Missense_L243P exm2269448 3 51568137 [T/C] exm318923 3 51661631 [T/C] NM_015106 RAD54L2 EXON Missense_P68S exm318924 3 51661749 [T/C] NM_015106 RAD54L2 EXON Missense_S107F exm318929 3 51664847 [A/G] NM_015106 RAD54L2 EXON Missense_R242H exm318939 3 51667967 [T/C] NM_015106 RAD54L2 EXON Missense_P353L exm318946 3 51669728 [T/C] NM_015106 RAD54L2 EXON Missense_P421L exm318957 3 51671458 [A/G] NM_015106 RAD54L2 EXON Missense_V541I exm318959 3 51672170 [A/G] NM_015106 RAD54L2 EXON Missense_T565A exm318979 3 51673994 [A/G] NM_015106 RAD54L2 EXON Missense_G737E exm318988 3 51680316 [C/G] NM_015106 RAD54L2 EXON Missense_E949Q exm318991 3 51680461 [A/G] NM_015106 RAD54L2 EXON Missense_S997N exm318992 3 51680478 [A/G] NM_015106 RAD54L2 EXON Missense_A1003T exm2239873 3 51696460 [A/G] NM_015106 RAD54L2 EXON Missense_C1143Y exm319006 3 51696501 [A/G] NM_015106 RAD54L2 EXON Missense_K1157E exm319012 3 51696592 [G/C] NM_015106 RAD54L2 EXON Missense_A1187G exm319014 3 51696619 [G/C] NM_015106 RAD54L2 EXON Missense_P1196R exm319016 3 51696633 [A/G] NM_015106 RAD54L2 EXON Missense_A1201T exm319022 3 51696840 [T/C] NM_015106 RAD54L2 EXON Missense_R1270W exm319030 3 51697024 [A/G] NM_015106 RAD54L2 EXON Missense_N1331S exm319031 3 51697089 [A/G] NM_015106 RAD54L2 EXON Missense_V1353I exm319034 3 51697137 [T/C] NM_015106 RAD54L2 EXON Missense_F1369L exm319044 3 51697330 [A/G] NM_015106 RAD54L2 EXON Missense_R1433Q exm319046 3 51697366 [A/C] NM_015106 RAD54L2 EXON Missense_A1445D exm319052 3 51708349 [T/C] NR_024012,NM_015926,NM_001243727,NM_001129884,NM_001243725,NM_001243726 TEX264,TEX264,TEX264,TEX264,TEX264,TEX264 EXON Silent,Missense_I10T,Missense_I10T,Missense_I10T,Missense_I10T,Missense_I10T exm319055 3 51708421 [T/G] NR_024012,NM_015926,NM_001243727,NM_001129884,NM_001243725,NM_001243726 TEX264,TEX264,TEX264,TEX264,TEX264,TEX264 EXON Silent,Missense_V34G,Missense_V34G,Missense_V34G,Missense_V34G,Missense_V34G exm2239876 3 51708465 [A/G] NR_024012,NM_015926,NM_001243727,NM_001129884,NM_001243725,NM_001243726 TEX264,TEX264,TEX264,TEX264,TEX264,TEX264 EXON Silent,Missense_A49T,Missense_A49T,Missense_A49T,Missense_A49T,Missense_A49T exm319069 3 51718552 [T/C] NR_024012,NM_015926,NM_001243727,NM_001129884,NM_001243725,NM_001243726 TEX264,TEX264,TEX264,TEX264,TEX264,TEX264 EXON Silent,Missense_P128S,Silent,Missense_P128S,Missense_P128S,Missense_P128S exm319094 3 51737995 [T/C] NR_024012,NM_015926,NM_001243727,NM_001129884,NM_001243725,NM_001243726 TEX264,TEX264,TEX264,TEX264,TEX264,TEX264 EXON Silent,Missense_L302P,Missense_L228P,Missense_L302P,Missense_L302P,Missense_L302P exm319100 3 51743034 [T/C] NM_001130063,NM_000839 GRM2,GRM2 EXON Silent,Missense_L12P exm319102 3 51743096 [A/G] NM_001130063,NM_000839 GRM2,GRM2 EXON Silent,Missense_V33M exm319113 3 51743411 [A/G] NM_001130063,NM_000839 GRM2,GRM2 EXON Silent,Missense_G138S exm2056741 3 51746780 [A/G] NM_001130063,NM_000839 GRM2,GRM2 EXON Silent,Missense_A248T exm319128 3 51746781 [T/C] NM_001130063,NM_000839 GRM2,GRM2 EXON Silent,Missense_A248V exm319140 3 51747111 [A/G] NM_001130063,NM_000839 GRM2,GRM2 EXON Silent,Missense_R358Q exm319142 3 51747125 [A/G] NM_001130063,NM_000839 GRM2,GRM2 EXON Silent,Missense_A363T exm319147 3 51747288 [A/G] NM_001130063,NM_000839 GRM2,GRM2 EXON Silent,Missense_R417H exm319150 3 51749105 [A/G] NM_001130063,NM_000839 GRM2,GRM2 EXON Silent,Missense_N439S exm319157 3 51749360 [T/C] NM_001130063,NM_000839 GRM2,GRM2 EXON Silent,Missense_P524L exm2239880 3 51749675 [T/C] NM_001130063,NM_000839 GRM2,GRM2 EXON Missense_T11M,Missense_T629M exm319169 3 51749696 [A/G] NM_001130063,NM_000839 GRM2,GRM2 EXON Missense_R18H,Missense_R636H exm319179 3 51749863 [T/C] NM_001130063,NM_000839 GRM2,GRM2 EXON Missense_L74F,Missense_L692F exm2256077 3 51750141 [T/C] NM_001130063,NM_000839 GRM2,GRM2 EXON Synonymous_S166S,Synonymous_S784S exm319199 3 51751674 [A/G] NM_001130063,NM_000839 GRM2,GRM2 EXON Missense_V178M,Missense_V796M exm319207 3 51751813 [T/C] NM_001130063,NM_000839 GRM2,GRM2 EXON Missense_A224V,Missense_A842V exm319216 3 51812691 [T/C] NM_001143833 IQCF6 EXON Missense_Y91C exm319221 3 51812788 [A/G] NM_001143833 IQCF6 EXON Missense_R59C exm319222 3 51812791 [T/C] NM_001143833 IQCF6 EXON Missense_A58T exm319227 3 51812952 [T/C] NM_001143833 IQCF6 EXON Missense_R4Q exm319228 3 51812953 [A/G] NM_001143833 IQCF6 EXON Missense_R4W exm2239881 3 51863322 [A/G] NM_001085479,NM_001207023 IQCF3,IQCF3 EXON Silent,Silent exm319233 3 51863690 [A/C] NM_001085479,NM_001207023 IQCF3,IQCF3 EXON Missense_P10T,Missense_P10T exm319236 3 51863712 [T/G] NM_001085479,NM_001207023 IQCF3,IQCF3 EXON Missense_R17I,Missense_R17I exm319243 3 51864558 [T/C] NM_001085479,NM_001207023 IQCF3,IQCF3 EXON Missense_T69M,Missense_T69M exm319246 3 51864572 [T/C] NM_001085479,NM_001207023 IQCF3,IQCF3 EXON Missense_R74W,Missense_R74W exm319251 3 51864611 [A/G] NM_001085479,NM_001207023 IQCF3,IQCF3 EXON Missense_V87I,Missense_V87I exm319259 3 51864721 [C/G] NM_001085479,NM_001207023 IQCF3,IQCF3 EXON Missense_E123D,Missense_E123D exm319266 3 51895692 [T/C] NM_203424 IQCF2 EXON Nonsense_R4X exm319267 3 51895693 [A/G] NM_203424 IQCF2 EXON Missense_R4Q exm319277 3 51897124 [A/G] NM_203424 IQCF2 EXON Missense_R78Q exm319279 3 51897130 [T/C] NM_203424 IQCF2 EXON Missense_T80M exm319284 3 51897222 [T/C] NM_203424 IQCF2 EXON Missense_R111C exm319287 3 51897361 [T/C] NM_203424 IQCF2 EXON Missense_F157S exm319288 3 51907769 [A/G] NM_001145059 IQCF5 EXON Missense_P143S exm319291 3 51907870 [T/C] NM_001145059 IQCF5 EXON Missense_R109H exm319295 3 51908098 [T/C] NM_001145059 IQCF5 EXON Missense_H33R exm319298 3 51908113 [T/C] NM_001145059 IQCF5 EXON Missense_R28Q exm319301 3 51908182 [T/C] NM_001145059 IQCF5 EXON Missense_E5G exm319305 3 51928908 [A/G] NM_152397 IQCF1 EXON Missense_X206R exm2056795 3 51928928 [A/G] NM_152397 IQCF1 EXON Missense_I199T exm319313 3 51929069 [T/C] NM_152397 IQCF1 EXON Missense_R152H exm319314 3 51929096 [T/C] NM_152397 IQCF1 EXON Missense_R143H exm319316 3 51929115 [T/G] NM_152397 IQCF1 EXON Missense_M137L exm319321 3 51929183 [T/C] NM_152397 IQCF1 EXON Missense_R114Q exm319323 3 51929217 [A/G] NM_152397 IQCF1 EXON Missense_R103W exm319331 3 51930850 [T/C] NM_152397 IQCF1 EXON Missense_K57E exm319359 3 51968725 [A/G] NM_004704 RRP9 EXON Missense_R368W exm319362 3 51968775 [A/C] NM_004704 RRP9 EXON Missense_G351V exm319365 3 51969223 [T/C] NM_004704 RRP9 EXON Missense_A342T exm2056818 3 51969449 [A/G] NM_004704 RRP9 EXON Missense_R294W exm319384 3 51969657 [A/G] NM_004704 RRP9 EXON Missense_R263C exm319388 3 51970274 [A/G] NM_004704 RRP9 EXON Missense_S245L exm319389 3 51970296 [T/G] NM_004704 RRP9 EXON Missense_T238P exm319391 3 51970353 [A/G] NM_004704 RRP9 EXON Missense_R219C exm319396 3 51970535 [A/G] NM_004704 RRP9 EXON Missense_P185L exm319402 3 51971298 [A/G] NM_004704 RRP9 EXON Missense_R143W exm319423 3 51977385 [G/C] NM_001003931,NM_005485 PARP3,PARP3 EXON Missense_P12R,Missense_P5R exm2273937 3 51977419 [A/G] NM_001003931,NM_005485 PARP3,PARP3 EXON Synonymous_K23K,Synonymous_K16K exm319427 3 51977492 [T/G] NM_001003931,NM_005485 PARP3,PARP3 EXON Missense_A48S,Missense_A41S exm319436 3 51978193 [A/G] NM_001003931,NM_005485 PARP3,PARP3 EXON Missense_S98N,Missense_S91N exm319439 3 51978220 [A/G] NM_001003931,NM_005485 PARP3,PARP3 EXON Missense_H107R,Missense_H100R exm319442 3 51978481 [T/C] NM_001003931,NM_005485 PARP3,PARP3 EXON Missense_R137W,Missense_R130W exm319443 3 51978494 [A/G] NM_001003931,NM_005485 PARP3,PARP3 EXON Missense_K141R,Missense_K134R exm319444 3 51978511 [T/C] NM_001003931,NM_005485 PARP3,PARP3 EXON Missense_R147W,Missense_R140W exm2056854 3 51978529 [T/C] NM_001003931,NM_005485 PARP3,PARP3 EXON Missense_H153Y,Missense_H146Y exm319456 3 51978793 [A/G] NM_001003931,NM_005485 PARP3,PARP3 Silent,Silent exm319460 3 51978908 [A/G] NM_001003931,NM_005485 PARP3,PARP3 EXON Missense_M213V,Missense_M206V exm319463 3 51979062 [A/G] NM_001003931,NM_005485 PARP3,PARP3 EXON Missense_R235Q,Missense_R228Q exm319465 3 51979070 [T/G] NM_001003931,NM_005485 PARP3,PARP3 EXON Nonsense_E238X,Nonsense_E231X exm319467 3 51979083 [T/C] NM_001003931,NM_005485 PARP3,PARP3 EXON Missense_A242V,Missense_A235V exm319473 3 51979164 [T/C] NM_001003931,NM_005485 PARP3,PARP3 EXON Missense_P269L,Missense_P262L exm319484 3 51979588 [A/C] NM_001003931,NM_005485 PARP3,PARP3 EXON Missense_H320Q,Missense_H313Q exm319488 3 51979875 [T/C] NM_001003931,NM_005485 PARP3,PARP3 EXON Nonsense_Q347X,Nonsense_Q340X exm319494 3 51980236 [A/G] NM_001003931,NM_005485 PARP3,PARP3 EXON Missense_G392S,Missense_G385S exm319498 3 51980281 [T/C] NM_001003931,NM_005485 PARP3,PARP3 EXON Missense_R407C,Missense_R400C exm319499 3 51980284 [A/G] NM_001003931,NM_005485 PARP3,PARP3 EXON Missense_I408V,Missense_I401V exm319506 3 51981894 [A/G] NM_001003931,NM_005485 PARP3,PARP3 EXON Missense_R479Q,Missense_R472Q exm319509 3 51982335 [T/C] NM_001003931,NM_005485 PARP3,PARP3 EXON Nonsense_Q488X,Nonsense_Q481X exm319513 3 51982465 [A/G] NM_001003931,NM_005485 PARP3,PARP3 EXON Missense_R531H,Missense_R524H exm319549 3 51990315 [A/G] NM_080865 GPR62 EXON Missense_H216R exm319557 3 51990605 [C/G] NM_080865 GPR62 EXON Missense_V313L exm319563 3 51990732 [A/G] NM_080865 GPR62 EXON Missense_R355Q exm319565 3 51990763 [T/G] NM_080865 GPR62 EXON Missense_S365R exm319568 3 51992141 [A/G] NM_020418,NM_001174100,NM_033008,NM_033010 PCBP4,PCBP4,PCBP4,PCBP4 EXON Missense_T340I,Missense_T383I,Missense_T383I,Missense_T383I exm319571 3 51992165 [A/G] NM_020418,NM_001174100,NM_033008,NM_033010 PCBP4,PCBP4,PCBP4,PCBP4 EXON Missense_P332L,Missense_P375L,Missense_P375L,Missense_P375L exm319573 3 51992175 [A/C] NM_020418,NM_001174100,NM_033008,NM_033010 PCBP4,PCBP4,PCBP4,PCBP4 EXON Missense_S329A,Missense_S372A,Missense_S372A,Missense_S372A exm319580 3 51992274 [A/G] NM_020418,NM_001174100,NM_033008,NM_033010 PCBP4,PCBP4,PCBP4,PCBP4 EXON Missense_P296S,Missense_P339S,Missense_P339S,Missense_P339S exm2056887 3 51992365 [A/G] NM_020418,NM_001174100,NM_033008,NM_033010 PCBP4,PCBP4,PCBP4,PCBP4 EXON Synonymous_C265C,Synonymous_C308C,Synonymous_C308C,Synonymous_C308C exm319591 3 51992824 [A/T] NM_020418,NM_001174100,NM_033008,NM_033010 PCBP4,PCBP4,PCBP4,PCBP4 EXON Missense_Q259L,Missense_Q302L,Missense_Q302L,Missense_Q302L exm319603 3 51993427 [T/C] NM_020418,NM_001174100,NM_033008,NM_033010 PCBP4,PCBP4,PCBP4,PCBP4 EXON Missense_G155S,Missense_G198S,Missense_G198S,Missense_G198S exm319616 3 51994306 [A/T] NM_020418,NM_001174100,NM_033008,NM_033010 PCBP4,PCBP4,PCBP4,PCBP4 EXON Missense_N96Y,Missense_N96Y,Missense_N96Y,Missense_N96Y exm319657 3 52003482 [T/C] NM_001146314,NM_032750,NM_001254753 ABHD14B,ABHD14B,ABHD14B EXON Nonsense_W198X,Nonsense_W198X,Nonsense_W160X exm319661 3 52003560 [A/G] NM_001146314,NM_032750,NM_001254753 ABHD14B,ABHD14B,ABHD14B EXON Missense_L172P,Missense_L172P,Missense_L134P exm319669 3 52004171 [A/G] NM_001146314,NM_032750,NM_001254753 ABHD14B,ABHD14B,ABHD14B EXON Missense_P81S,Missense_P81S,Missense_P43S exm319673 3 52005593 [A/G] NM_001146314,NM_032750,NM_001254753 ABHD14B,ABHD14B,ABHD14B EXON Missense_R32C,Missense_R32C,Silent exm319678 3 52005638 [A/G] NM_001146314,NM_032750,NM_001254753 ABHD14B,ABHD14B,ABHD14B EXON Nonsense_Q17X,Nonsense_Q17X,Silent exm319679 3 52005665 [A/G] NM_001146314,NM_032750,NM_001254753 ABHD14B,ABHD14B,ABHD14B EXON Missense_R8C,Missense_R8C,Silent exm319688 3 52011906 [T/G] NM_015407,NR_037192 ABHD14A,ABHD14A-ACY1 EXON Missense_M30R,Silent exm319690 3 52011912 [A/G] NM_015407,NR_037192 ABHD14A,ABHD14A-ACY1 EXON Missense_R32Q,Silent exm319695 3 52012000 [G/C] NM_015407,NR_037192 ABHD14A,ABHD14A-ACY1 EXON Missense_C61W,Silent exm319700 3 52012087 [C/G] NM_015407,NR_037192 ABHD14A,ABHD14A-ACY1 EXON Missense_N90K,Silent exm2239887 3 52012283 [T/C] NM_015407,NR_037192 ABHD14A,ABHD14A-ACY1 EXON Missense_V97A,Silent exm319704 3 52012326 [T/G] NM_015407,NR_037192 ABHD14A,ABHD14A-ACY1 EXON Missense_E111D,Silent exm319711 3 52014474 [T/C] NM_015407,NR_037192 ABHD14A,ABHD14A-ACY1 EXON Missense_R155W,Silent exm319721 3 52014567 [T/C] NM_015407,NR_037192 ABHD14A,ABHD14A-ACY1 EXON Missense_H186Y,Silent exm319722 3 52014577 [A/G] NM_015407,NR_037192 ABHD14A,ABHD14A-ACY1 EXON Missense_H189R,Silent exm319725 3 52014897 [C/G] NM_015407,NR_037192 ABHD14A,ABHD14A-ACY1 EXON Missense_R227G,Silent exm319726 3 52014898 [A/G] NM_015407,NR_037192 ABHD14A,ABHD14A-ACY1 EXON Missense_R227Q,Silent exm319727 3 52014907 [T/G] NM_015407,NR_037192 ABHD14A,ABHD14A-ACY1 EXON Missense_L230R,Silent exm319754 3 52019928 [A/G] NR_037192,NM_000666,NM_001198897,NM_001198898,NM_001198895,NM_001198896 ABHD14A-ACY1,ACY1,ACY1,ACY1,ACY1,ACY1 EXON Silent,Missense_R109G,Missense_R109G,Missense_R74G,Missense_R109G,Silent exm319755 3 52019935 [T/C] NR_037192,NM_000666,NM_001198897,NM_001198898,NM_001198895,NM_001198896 ABHD14A-ACY1,ACY1,ACY1,ACY1,ACY1,ACY1 EXON Silent,Missense_A111V,Missense_A111V,Missense_A76V,Missense_A111V,Silent exm319769 3 52020630 [A/G] NR_037192,NM_000666,NM_001198897,NM_001198898,NM_001198895,NM_001198896 ABHD14A-ACY1,ACY1,ACY1,ACY1,ACY1,ACY1 EXON Silent,Missense_N179S,Missense_N179S,Missense_N144S,Missense_N179S,Missense_N107S exm319774 3 52021010 [A/G] NR_037192,NM_000666,NM_001198897,NM_001198898,NM_001198895,NM_001198896 ABHD14A-ACY1,ACY1,ACY1,ACY1,ACY1,ACY1 EXON Silent,Missense_R197Q,Missense_R197Q,Missense_R162Q,Missense_R197Q,Missense_R125Q exm319775 3 52021045 [T/C] NR_037192,NM_000666,NM_001198897,NM_001198898,NM_001198895,NM_001198896 ABHD14A-ACY1,ACY1,ACY1,ACY1,ACY1,ACY1 EXON Silent,Missense_R209C,Missense_R209C,Missense_R174C,Missense_R209C,Missense_R137C exm319785 3 52021422 [A/G] NR_037192,NM_000666,NM_001198897,NM_001198898,NM_001198895,NM_001198896 ABHD14A-ACY1,ACY1,ACY1,ACY1,ACY1,ACY1 EXON Silent,Missense_M269V,Silent,Missense_M234V,Missense_M269V,Missense_M197V exm2056958 3 52021614 [A/G] NR_037192,NM_000666,NM_001198897,NM_001198898,NM_001198895,NM_001198896 ABHD14A-ACY1,ACY1,ACY1,ACY1,ACY1,ACY1 EXON Silent,Missense_E299K,Missense_E234K,Missense_E264K,Missense_E299K,Missense_E227K exm2239890 3 52022604 [A/G] NR_037192,NM_000666,NM_001198897,NM_001198898,NM_001198895,NM_001198896 ABHD14A-ACY1,ACY1,ACY1,ACY1,ACY1,ACY1 EXON Silent,Missense_R329Q,Missense_R264Q,Missense_R294Q,Missense_R329Q,Missense_R257Q exm319796 3 52022829 [A/G] NR_037192,NM_000666,NM_001198897,NM_001198898,NM_001198895,NM_001198896 ABHD14A-ACY1,ACY1,ACY1,ACY1,ACY1,ACY1 EXON Silent,Missense_R350H,Missense_R285H,Missense_R315H,Missense_R350H,Missense_R278H exm319797 3 52022837 [T/C] NR_037192,NM_000666,NM_001198897,NM_001198898,NM_001198895,NM_001198896 ABHD14A-ACY1,ACY1,ACY1,ACY1,ACY1,ACY1 EXON Silent,Missense_R353C,Missense_R288C,Missense_R318C,Missense_R353C,Missense_R281C exm2056961 3 52022926 [A/G] NR_037192,NM_000666,NM_001198897,NM_001198898,NM_001198895,NM_001198896 ABHD14A-ACY1,ACY1,ACY1,ACY1,ACY1,ACY1 Silent,Silent,Silent,Silent,Silent,Silent exm319800 3 52022964 [A/G] NR_037192,NM_000666,NM_001198897,NM_001198898,NM_001198895,NM_001198896 ABHD14A-ACY1,ACY1,ACY1,ACY1,ACY1,ACY1 EXON Silent,Missense_R367H,Missense_R302H,Missense_R332H,Missense_R367H,Missense_R295H exm319805 3 52023020 [T/C] NR_037192,NM_000666,NM_001198897,NM_001198898,NM_001198895,NM_001198896 ABHD14A-ACY1,ACY1,ACY1,ACY1,ACY1,ACY1 EXON Silent,Missense_R386C,Missense_R321C,Missense_R351C,Missense_R386C,Missense_R314C exm319807 3 52023041 [T/C] NR_037192,NM_000666,NM_001198897,NM_001198898,NM_001198895,NM_001198896 ABHD14A-ACY1,ACY1,ACY1,ACY1,ACY1,ACY1 EXON Silent,Missense_R393C,Missense_R328C,Missense_R358C,Missense_R393C,Missense_R321C exm319808 3 52023042 [A/G] NR_037192,NM_000666,NM_001198897,NM_001198898,NM_001198895,NM_001198896 ABHD14A-ACY1,ACY1,ACY1,ACY1,ACY1,ACY1 EXON Silent,Missense_R393H,Missense_R328H,Missense_R358H,Missense_R393H,Missense_R321H exm319869 3 52088253 [T/C] NM_001947 DUSP7 EXON Missense_G219S exm319905 3 52109923 [T/G] NM_015426,NM_001161580,NM_001161581 POC1A,POC1A,POC1A EXON Missense_M402L,Missense_M354L,Missense_M364L exm319912 3 52130653 [T/C] NM_015426,NM_001161580,NM_001161581 POC1A,POC1A,POC1A EXON Missense_V353M,Silent,Missense_V315M exm319913 3 52130666 [A/C] NM_015426,NM_001161580,NM_001161581 POC1A,POC1A,POC1A EXON Missense_Q348H,Silent,Missense_Q310H exm2239895 3 52156396 [A/G] NM_015426,NM_001161580,NM_001161581 POC1A,POC1A,POC1A EXON Missense_L327P,Missense_L327P,Missense_L289P exm319915 3 52156406 [T/C] NM_015426,NM_001161580,NM_001161581 POC1A,POC1A,POC1A EXON Missense_M324V,Missense_M324V,Missense_M286V exm319920 3 52159128 [T/C] NM_015426,NM_001161580,NM_001161581 POC1A,POC1A,POC1A Silent,Silent,Silent exm319922 3 52159166 [A/G] NM_015426,NM_001161580,NM_001161581 POC1A,POC1A,POC1A EXON Missense_T282M,Missense_T282M,Missense_T244M exm319924 3 52172214 [A/G] NM_015426,NM_001161580,NM_001161581 POC1A,POC1A,POC1A EXON Missense_R262W,Missense_R262W,Missense_R224W exm2056991 3 52172229 [T/C] NM_015426,NM_001161580,NM_001161581 POC1A,POC1A,POC1A EXON Missense_D257N,Missense_D257N,Missense_D219N exm2056995 3 52179886 [A/G] NM_015426,NM_001161580,NM_001161581 POC1A,POC1A,POC1A EXON Missense_H219Y,Missense_H219Y,Missense_H181Y exm319931 3 52179895 [T/C] NM_015426,NM_001161580,NM_001161581 POC1A,POC1A,POC1A EXON Missense_V216M,Missense_V216M,Missense_V178M exm319933 3 52179925 [T/C] NM_015426,NM_001161580,NM_001161581 POC1A,POC1A,POC1A EXON Missense_G206S,Missense_G206S,Missense_G168S exm319934 3 52179931 [T/C] NM_015426,NM_001161580,NM_001161581 POC1A,POC1A,POC1A EXON Missense_A204T,Missense_A204T,Missense_A166T exm319936 3 52179955 [A/G] NM_015426,NM_001161580,NM_001161581 POC1A,POC1A,POC1A EXON Missense_H196Y,Missense_H196Y,Missense_H158Y exm319937 3 52179970 [T/C] NM_015426,NM_001161580,NM_001161581 POC1A,POC1A,POC1A EXON Missense_T191A,Missense_T191A,Missense_T153A exm319942 3 52181038 [A/G] NM_015426,NM_001161580,NM_001161581 POC1A,POC1A,POC1A EXON Missense_R177W,Missense_R177W,Missense_R139W exm319955 3 52183872 [T/C] NM_015426,NM_001161580,NM_001161581 POC1A,POC1A,POC1A EXON Missense_G79S,Missense_G79S,Missense_G41S exm319960 3 52183958 [A/G] NM_015426,NM_001161580,NM_001161581 POC1A,POC1A,POC1A EXON Missense_P50L,Missense_P50L,Missense_P12L exm319961 3 52185053 [T/C] NM_015426,NM_001161580,NM_001161581 POC1A,POC1A,POC1A EXON Missense_S28G,Missense_S28G,Silent exm319971 3 52233264 [A/G] NM_000688,NM_199166 ALAS1,ALAS1 EXON Missense_S3G,Missense_S3G exm319978 3 52233295 [A/G] NM_000688,NM_199166 ALAS1,ALAS1 EXON Missense_R13Q,Missense_R13Q exm319980 3 52233305 [C/G] NM_000688,NM_199166 ALAS1,ALAS1 EXON Missense_Q16H,Missense_Q16H exm319984 3 52233384 [T/C] NM_000688,NM_199166 ALAS1,ALAS1 EXON Missense_P43S,Missense_P43S exm319985 3 52233387 [T/G] NM_000688,NM_199166 ALAS1,ALAS1 EXON Missense_A44S,Missense_A44S exm319986 3 52233390 [A/C] NM_000688,NM_199166 ALAS1,ALAS1 EXON Missense_P45T,Missense_P45T exm2057008 3 52233450 [A/G] NM_000688,NM_199166 ALAS1,ALAS1 EXON Missense_S65G,Missense_S65G exm2057010 3 52236528 [A/G] NM_000688,NM_199166 ALAS1,ALAS1 EXON Missense_K69E,Missense_K69E exm319991 3 52236580 [G/C] NM_000688,NM_199166 ALAS1,ALAS1 EXON Missense_P86R,Missense_P86R exm320020 3 52238931 [T/C] NM_000688,NM_199166 ALAS1,ALAS1 EXON Missense_M267T,Missense_M267T exm320028 3 52240620 [T/G] NM_000688,NM_199166 ALAS1,ALAS1 EXON Missense_A340S,Missense_A340S exm320033 3 52240692 [T/C] NM_000688,NM_199166 ALAS1,ALAS1 EXON Missense_L364F,Missense_L364F exm320035 3 52240725 [A/G] NM_000688,NM_199166 ALAS1,ALAS1 EXON Missense_V375I,Missense_V375I exm320038 3 52242152 [A/G] NM_000688,NM_199166 ALAS1,ALAS1 EXON Missense_I407V,Missense_I407V exm320049 3 52245437 [A/G] NM_000688,NM_199166 ALAS1,ALAS1 EXON Missense_R490Q,Missense_R490Q exm320060 3 52245566 [A/G] NM_000688,NM_199166 ALAS1,ALAS1 EXON Missense_R533Q,Missense_R533Q exm320083 3 52255308 [G/C] NM_017442 TLR9 EXON Missense_Q1008H exm320092 3 52255366 [T/C] NM_017442 TLR9 EXON Missense_R989H exm2057043 3 52255447 [T/C] NM_017442 TLR9 EXON Missense_R962H exm2057045 3 52255540 [T/C] NM_017442 TLR9 EXON Missense_R931H exm320118 3 52255744 [T/C] NM_017442 TLR9 EXON Missense_R863Q exm320121 3 52255747 [T/C] NM_017442 TLR9 EXON Missense_G862E exm320130 3 52255874 [T/C] NM_017442 TLR9 EXON Missense_A820T exm2057048 3 52255913 [A/G] NM_017442 TLR9 EXON Missense_R807C exm320142 3 52256157 [G/C] NM_017442 TLR9 EXON Missense_K725N exm320146 3 52256222 [A/G] NM_017442 TLR9 EXON Missense_R704W exm320152 3 52256315 [C/G] NM_017442 TLR9 EXON Missense_L673V exm320158 3 52256447 [T/C] NM_017442 TLR9 EXON Missense_G629S exm320159 3 52256450 [T/G] NM_017442 TLR9 EXON Missense_S628R exm320166 3 52256621 [T/C] NM_017442 TLR9 EXON Missense_V571M exm320172 3 52256715 [T/G] NM_017442 TLR9 EXON Missense_H539Q exm320184 3 52257064 [A/G] NM_017442 TLR9 EXON Missense_S423L exm320198 3 52257400 [T/C] NM_017442 TLR9 EXON Missense_R311Q exm320211 3 52257665 [T/C] NM_017442 TLR9 EXON Missense_E223K exm320242 3 52258319 [A/G] NM_017442 TLR9 EXON Missense_R5C exm2269449 3 52258372 [T/C] NM_017442 TLR9 Silent exm320253 3 52263216 [A/G] NM_007284 TWF2 EXON Missense_I295T exm320266 3 52264932 [T/C] NM_007284 TWF2 EXON Missense_R188Q exm2277263 3 52264933 [A/G] NM_007284 TWF2 EXON Missense_R188W exm320267 3 52264959 [A/G] NM_007284 TWF2 EXON Missense_A179V exm320269 3 52265160 [T/G] NM_007284 TWF2 EXON Missense_Q156K exm320272 3 52265210 [A/G] NM_007284 TWF2 EXON Missense_S139L exm320275 3 52265497 [C/G] NM_007284 TWF2 EXON Missense_G114A exm2057097 3 52269066 [T/G] NM_007284 TWF2 EXON Missense_I28L exm320286 3 52269071 [T/C] NM_007284 TWF2 EXON Missense_R26Q exm320287 3 52269087 [A/G] NM_007284 TWF2 EXON Missense_R21W exm320290 3 52269113 [T/C] NM_007284 TWF2 EXON Missense_E12G exm2057102 3 52281713 [T/C] NM_144641,NM_001122870 PPM1M,PPM1M EXON Missense_R205W,Silent exm320309 3 52282182 [T/C] NM_144641,NM_001122870 PPM1M,PPM1M EXON Missense_R242W,Missense_R30W exm320311 3 52282200 [T/C] NM_144641,NM_001122870 PPM1M,PPM1M EXON Missense_P248S,Missense_P36S exm320319 3 52282458 [G/C] NM_144641,NM_001122870 PPM1M,PPM1M EXON Missense_H301Q,Missense_H89Q exm320339 3 52283334 [T/C] NM_144641,NM_001122870 PPM1M,PPM1M EXON Missense_H411Y,Missense_H199Y exm320344 3 52283774 [A/G] NM_144641,NM_001122870 PPM1M,PPM1M EXON Missense_V442I,Missense_V230I exm320347 3 52283798 [T/C] NM_144641,NM_001122870 PPM1M,PPM1M EXON Missense_H450Y,Missense_H238Y exm320348 3 52283808 [A/G] NM_144641,NM_001122870 PPM1M,PPM1M EXON Missense_G453D,Missense_G241D exm320397 3 52324437 [T/C] NM_001144951,NR_026699,NR_026700,NM_145262,NR_026702,NR_026701 GLYCTK,GLYCTK,GLYCTK,GLYCTK,GLYCTK,GLYCTK EXON Missense_R27C,Silent,Silent,Missense_R27C,Silent,Silent exm320398 3 52324438 [A/G] NM_001144951,NR_026699,NR_026700,NM_145262,NR_026702,NR_026701 GLYCTK,GLYCTK,GLYCTK,GLYCTK,GLYCTK,GLYCTK EXON Missense_R27H,Silent,Silent,Missense_R27H,Silent,Silent exm320405 3 52324600 [T/C] NM_001144951,NR_026699,NR_026700,NM_145262,NR_026702,NR_026701 GLYCTK,GLYCTK,GLYCTK,GLYCTK,GLYCTK,GLYCTK EXON Missense_L81P,Silent,Silent,Missense_L81P,Silent,Silent exm320412 3 52324683 [A/G] NM_001144951,NR_026699,NR_026700,NM_145262,NR_026702,NR_026701 GLYCTK,GLYCTK,GLYCTK,GLYCTK,GLYCTK,GLYCTK EXON Missense_V109M,Silent,Silent,Missense_V109M,Silent,Silent exm320417 3 52324982 [C/G] NM_001144951,NR_026699,NR_026700,NM_145262,NR_026702,NR_026701 GLYCTK,GLYCTK,GLYCTK,GLYCTK,GLYCTK,GLYCTK EXON Missense_M128I,Silent,Silent,Missense_M128I,Silent,Silent exm320419 3 52325001 [T/C] NM_001144951,NR_026699,NR_026700,NM_145262,NR_026702,NR_026701 GLYCTK,GLYCTK,GLYCTK,GLYCTK,GLYCTK,GLYCTK EXON Missense_R135C,Silent,Silent,Missense_R135C,Silent,Silent exm320423 3 52325055 [T/C] NM_001144951,NR_026699,NR_026700,NM_145262,NR_026702,NR_026701 GLYCTK,GLYCTK,GLYCTK,GLYCTK,GLYCTK,GLYCTK EXON Missense_R153W,Silent,Silent,Missense_R153W,Silent,Silent exm320425 3 52325089 [A/G] NM_001144951,NR_026699,NR_026700,NM_145262,NR_026702,NR_026701 GLYCTK,GLYCTK,GLYCTK,GLYCTK,GLYCTK,GLYCTK EXON Missense_G164E,Silent,Silent,Missense_G164E,Silent,Silent exm2273938 3 52325786 [A/G] NM_001144951,NR_026699,NR_026700,NM_145262,NR_026702,NR_026701 GLYCTK,GLYCTK,GLYCTK,GLYCTK,GLYCTK,GLYCTK EXON Silent,Silent,Silent,Missense_A185T,Silent,Silent exm320435 3 52326358 [A/G] NM_001144951,NR_026699,NR_026700,NM_145262,NR_026702,NR_026701 GLYCTK,GLYCTK,GLYCTK,GLYCTK,GLYCTK,GLYCTK EXON Synonymous_Q204Q,Silent,Silent,Missense_N263S,Silent,Silent exm320436 3 52326361 [A/T] NM_001144951,NR_026699,NR_026700,NM_145262,NR_026702,NR_026701 GLYCTK,GLYCTK,GLYCTK,GLYCTK,GLYCTK,GLYCTK EXON Nonsense_C205X,Silent,Silent,Missense_V264E,Silent,Silent exm320458 3 52326751 [T/C] NM_001144951,NR_026699,NR_026700,NM_145262,NR_026702,NR_026701 GLYCTK,GLYCTK,GLYCTK,GLYCTK,GLYCTK,GLYCTK EXON Silent,Silent,Silent,Missense_T394I,Silent,Silent exm320462 3 52326864 [A/G] NM_001144951,NR_026699,NR_026700,NM_145262,NR_026702,NR_026701 GLYCTK,GLYCTK,GLYCTK,GLYCTK,GLYCTK,GLYCTK EXON Silent,Silent,Silent,Missense_A432T,Silent,Silent exm320469 3 52326967 [T/C] NM_001144951,NR_026699,NR_026700,NM_145262,NR_026702,NR_026701 GLYCTK,GLYCTK,GLYCTK,GLYCTK,GLYCTK,GLYCTK EXON Silent,Silent,Silent,Missense_T466I,Silent,Silent exm320473 3 52327038 [T/C] NR_026699,NR_026700,NM_145262,NR_026702,NR_026701 GLYCTK,GLYCTK,GLYCTK,GLYCTK,GLYCTK EXON Silent,Silent,Missense_H490Y,Silent,Silent exm320474 3 52327048 [T/G] NR_026699,NR_026700,NM_145262,NR_026702,NR_026701 GLYCTK,GLYCTK,GLYCTK,GLYCTK,GLYCTK EXON Silent,Silent,Missense_F493C,Silent,Silent exm320487 3 52356504 [T/C] NM_015512 DNAH1 EXON Nonsense_Q16X exm320492 3 52356727 [T/C] NM_015512 DNAH1 EXON Missense_P90L exm320507 3 52360318 [T/C] NM_015512 DNAH1 EXON Missense_I190T exm2273939 3 52360763 [T/G] NM_015512 DNAH1 EXON Missense_Q198H exm320520 3 52361926 [A/G] NM_015512 DNAH1 EXON Missense_R256Q exm320525 3 52365180 [G/C] NM_015512 DNAH1 EXON Missense_Q296H exm320528 3 52365223 [A/G] NM_015512 DNAH1 EXON Missense_D311N exm320533 3 52366211 [T/C] NM_015512 DNAH1 EXON Missense_F363L exm320540 3 52366284 [A/C] NM_015512 DNAH1 EXON Missense_A387E exm320541 3 52366296 [A/G] NM_015512 DNAH1 EXON Missense_Y391C exm320542 3 52366368 [A/G] NM_015512 DNAH1 EXON Missense_K415R exm320546 3 52378506 [A/G] NM_015512 DNAH1 EXON Synonymous_S429S exm320549 3 52378540 [C/G] NM_015512 DNAH1 EXON Missense_V441L exm320550 3 52378570 [A/G] NM_015512 DNAH1 EXON Missense_K451E exm320551 3 52378603 [T/C] NM_015512 DNAH1 EXON Missense_P462S exm320552 3 52378661 [A/G] NM_015512 DNAH1 EXON Missense_R481Q exm320561 3 52379676 [A/G] NM_015512 DNAH1 EXON Missense_S537N exm320564 3 52380519 [A/G] NM_015512 DNAH1 EXON Missense_S563N exm320566 3 52380539 [T/C] NM_015512 DNAH1 EXON Missense_R570C exm2239906 3 52380590 [A/C] NM_015512 DNAH1 EXON Missense_N587H exm320568 3 52380620 [T/C] NM_015512 DNAH1 EXON Missense_R597C exm320573 3 52380678 [A/C] NM_015512 DNAH1 EXON Missense_Q616P exm320576 3 52380743 [A/G] NM_015512 DNAH1 EXON Missense_D638N exm320578 3 52381841 [T/C] NM_015512 DNAH1 EXON Missense_P653S exm320581 3 52381865 [A/G] NM_015512 DNAH1 EXON Missense_M661V exm320593 3 52383001 [A/G] NM_015512 DNAH1 EXON Missense_S735N exm320599 3 52383312 [T/G] NM_015512 DNAH1 EXON Missense_I801S exm320600 3 52383318 [T/C] NM_015512 DNAH1 EXON Missense_I803T exm320605 3 52383392 [A/G] NM_015512 DNAH1 EXON Missense_V828M exm320612 3 52384020 [T/C] NM_015512 DNAH1 EXON Missense_R848C exm2057207 3 52384025 [G/C] NM_015512 DNAH1 EXON Missense_S849R exm320617 3 52384054 [A/G] NM_015512 DNAH1 EXON Missense_N859S exm320622 3 52384594 [A/G] NM_015512 DNAH1 EXON Missense_D906G exm320626 3 52385992 [A/G] NM_015512 DNAH1 EXON Missense_N915S exm320637 3 52386622 [A/G] NM_015512 DNAH1 EXON Missense_A976T exm320642 3 52386646 [A/G] NM_015512 DNAH1 EXON Missense_K984E exm320646 3 52386698 [A/G] NM_015512 DNAH1 EXON Missense_R1001H exm320651 3 52387236 [G/C] NM_015512 DNAH1 EXON Missense_D1049H exm320653 3 52387293 [A/G] NM_015512 DNAH1 EXON Missense_V1068M exm320663 3 52387519 [A/G] NM_015512 DNAH1 EXON Missense_Q1117R exm320675 3 52388886 [A/T] NM_015512 DNAH1 EXON Missense_S1170T exm320685 3 52390692 [G/C] NM_015512 DNAH1 EXON Missense_S1252R exm320687 3 52390789 [T/C] NM_015512 DNAH1 EXON Missense_R1285W exm320690 3 52391648 [A/G] NM_015512 DNAH1 EXON Missense_D1293N exm320696 3 52391993 [T/C] NM_015512 DNAH1 EXON Missense_R1354C exm320701 3 52392595 [A/G] NM_015512 DNAH1 EXON Missense_E1370K exm320720 3 52394028 [A/G] NM_015512 DNAH1 EXON Missense_V1502M exm320721 3 52394055 [A/G] NM_015512 DNAH1 EXON Missense_V1511M exm320722 3 52394343 [A/G] NM_015512 DNAH1 EXON Missense_N1530D exm320738 3 52396410 [T/C] NM_015512 DNAH1 EXON Missense_R1663C exm320749 3 52397071 [T/C] NM_015512 DNAH1 EXON Missense_L1719F exm320752 3 52397098 [T/A] NM_015512 DNAH1 EXON Missense_S1728C exm320758 3 52398697 [T/C] NM_015512 DNAH1 EXON Missense_S1763L exm320761 3 52398709 [A/C] NM_015512 DNAH1 EXON Missense_N1767T exm320780 3 52400807 [T/G] NM_015512 DNAH1 EXON Missense_G1890V exm320781 3 52400812 [A/C] NM_015512 DNAH1 EXON Missense_M1892L exm2057269 3 52400828 [A/G] NM_015512 DNAH1 EXON Missense_N1897S exm320786 3 52400878 [A/G] NM_015512 DNAH1 EXON Missense_E1914K exm320806 3 52404178 [A/G] NM_015512 DNAH1 EXON Missense_N2064S exm320811 3 52404541 [A/G] NM_015512 DNAH1 EXON Missense_I2103V exm320819 3 52404776 [A/G] NM_015512 DNAH1 EXON Missense_R2154G exm320821 3 52404788 [A/G] NM_015512 DNAH1 EXON Missense_A2158T exm320825 3 52406046 [A/G] NM_015512 DNAH1 EXON Missense_M2204V exm320826 3 52406252 [A/G] NM_015512 DNAH1 EXON Missense_I2226V exm320828 3 52406364 [A/G] NM_015512 DNAH1 EXON Missense_N2263S exm2239908 3 52409345 [T/C] NM_015512 DNAH1 EXON Missense_R2359C exm320844 3 52409379 [A/C] NM_015512 DNAH1 EXON Missense_D2370A exm320847 3 52409393 [A/C] NM_015512 DNAH1 EXON Missense_K2375Q exm320849 3 52409413 [C/G] NM_015512 DNAH1 EXON Missense_I2381M exm320851 3 52409421 [A/G] NM_015512 DNAH1 EXON Missense_N2384S exm320853 3 52410004 [A/G] NM_015512 DNAH1 EXON Missense_R2398H exm320854 3 52410008 [C/G] NM_015512 DNAH1 EXON Synonymous_V2399V exm320857 3 52412729 [A/C] NM_015512 DNAH1 EXON Missense_T2437N exm320859 3 52412794 [A/G] NM_015512 DNAH1 EXON Missense_E2459K exm320866 3 52415693 [A/G] NM_015512 DNAH1 EXON Missense_N2549S exm320882 3 52416395 [A/G] NM_015512 DNAH1 EXON Missense_R2622Q exm2256080 3 52416426 [A/G] NM_015512 DNAH1 EXON Synonymous_A2632A exm320889 3 52417508 [A/G] NM_015512 DNAH1 EXON Missense_R2683Q exm320892 3 52417594 [A/G] NM_015512 DNAH1 EXON Missense_M2712V exm320896 3 52417940 [A/G] NM_015512 DNAH1 EXON Missense_I2739V exm320897 3 52417991 [A/G] NM_015512 DNAH1 EXON Missense_V2756M exm320912 3 52419443 [T/C] NM_015512 DNAH1 EXON Missense_L2869F exm320920 3 52420199 [C/G] NM_015512 DNAH1 EXON Missense_E2883D exm2057334 3 52420212 [T/G] NM_015512 DNAH1 EXON Missense_V2888L exm320921 3 52420231 [A/G] NM_015512 DNAH1 EXON Missense_K2894R exm320925 3 52420315 [T/C] NM_015512 DNAH1 EXON Missense_A2922V exm2057335 3 52420333 [A/G] NM_015512 DNAH1 EXON Missense_R2928H exm320930 3 52420751 [A/C] NM_015512 DNAH1 EXON Missense_K2962T exm320935 3 52422300 [T/C] NM_015512 DNAH1 EXON Missense_R3041C exm320939 3 52422564 [A/G] NM_015512 DNAH1 EXON Missense_K3101R exm320940 3 52422605 [T/C] NM_015512 DNAH1 EXON Missense_R3115W exm320958 3 52422898 [A/T] NM_015512 DNAH1 EXON Missense_I3147N exm320964 3 52423541 [A/G] NM_015512 DNAH1 EXON Missense_H3187R exm320969 3 52424967 [A/G] NM_015512 DNAH1 EXON Missense_N3213S exm320970 3 52424975 [G/C] NM_015512 DNAH1 EXON Missense_L3216V exm320971 3 52425000 [A/G] NM_015512 DNAH1 EXON Missense_N3224S exm2256081 3 52425260 [T/C] NM_015512 DNAH1 EXON Synonymous_N3269N exm320978 3 52425260 [T/C] NM_015512 DNAH1 EXON Synonymous_N3269N exm320979 3 52425264 [A/G] NM_015512 DNAH1 EXON Missense_I3271V exm320980 3 52425267 [T/C] NM_015512 DNAH1 EXON Missense_R3272C exm320987 3 52425502 [T/C] NM_015512 DNAH1 EXON Missense_T3312M exm320994 3 52426507 [C/G] NM_015512 DNAH1 EXON Missense_Q3360H exm320998 3 52426643 [A/G] NM_015512 DNAH1 EXON Missense_V3406I exm321000 3 52426846 [T/G] NM_015512 DNAH1 EXON Missense_A3427S exm2256082 3 52426989 [T/C] NM_015512 DNAH1 EXON Synonymous_L3474L exm321011 3 52427005 [A/G] NM_015512 DNAH1 EXON Missense_I3480V exm321012 3 52427015 [T/C] NM_015512 DNAH1 EXON Missense_S3483L exm321015 3 52427412 [A/G] NM_015512 DNAH1 EXON Missense_V3513I exm321021 3 52427491 [A/G] NM_015512 DNAH1 EXON Missense_K3539R exm321023 3 52428490 [T/C] NM_015512 DNAH1 EXON Nonsense_R3546X exm321031 3 52428959 [T/C] NM_015512 DNAH1 EXON Missense_Y3618H exm321033 3 52428993 [A/G] NM_015512 DNAH1 EXON Missense_R3629H exm321035 3 52429022 [A/G] NM_015512 DNAH1 EXON Missense_A3639T exm321037 3 52429059 [A/G] NM_015512 DNAH1 EXON Missense_R3651H exm321040 3 52429358 [A/G] NM_015512 DNAH1 EXON Missense_N3668S exm321047 3 52429570 [A/G] NM_015512 DNAH1 EXON Missense_R3712Q exm321051 3 52429665 [T/C] NM_015512 DNAH1 EXON Missense_R3744C exm321058 3 52430526 [A/G] NM_015512 DNAH1 EXON Missense_G3801D exm321065 3 52430697 [T/C] NM_015512 DNAH1 EXON Missense_H3832Y exm321066 3 52430698 [A/G] NM_015512 DNAH1 EXON Missense_H3832R exm2057390 3 52430775 [A/C] NM_015512 DNAH1 EXON Missense_K3858Q exm321098 3 52432933 [A/G] NM_015512 DNAH1 EXON Missense_V4053I exm321105 3 52433125 [T/C] NM_015512 DNAH1 EXON Missense_F4117L exm2239913 3 52433156 [T/C] NM_015512 DNAH1 EXON Missense_T4127I exm321107 3 52433600 [G/C] NM_015512 DNAH1 EXON Missense_Q4161E exm321112 3 52433745 [A/G] NM_015512 DNAH1 EXON Missense_Q4209R exm321114 3 52433754 [T/A] NM_015512 DNAH1 EXON Missense_D4212V exm321135 3 52437206 [A/G] NM_004656 BAP1 EXON Missense_T613M exm321141 3 52437258 [T/C] NM_004656 BAP1 EXON Missense_S596G exm321159 3 52437734 [A/G] NM_004656 BAP1 EXON Missense_V476A exm321170 3 52437893 [T/G] NM_004656 BAP1 EXON Missense_T423K exm321173 3 52438507 [G/C] NM_004656 BAP1 EXON Missense_D404E exm321174 3 52438516 [A/C] NM_004656 BAP1 EXON Nonsense_Y401X exm321200 3 52440269 [T/C] NM_004656 BAP1 EXON Synonymous_Q261Q exm321267 3 52455056 [T/C] NM_016483,NM_173341 PHF7,PHF7 EXON Missense_I184T,Missense_I184T exm321271 3 52455721 [A/G] NM_016483,NM_173341 PHF7,PHF7 EXON Missense_K211E,Missense_K211E exm321285 3 52456889 [A/C] NM_016483,NM_173341 PHF7,PHF7 EXON Missense_A304E,Missense_A265E exm321294 3 52457263 [A/G] NM_016483,NM_173341 PHF7,PHF7 EXON Missense_R359H,Missense_R320H exm321297 3 52457310 [A/C] NM_016483,NM_173341 PHF7,PHF7 EXON Missense_N375H,Missense_N336H exm321303 3 52469639 [A/G] NM_020163 SEMA3G EXON Missense_R777W exm321314 3 52469807 [A/G] NM_020163 SEMA3G EXON Missense_R721W exm321318 3 52469894 [A/G] NM_020163 SEMA3G EXON Missense_P692S exm321320 3 52469941 [T/G] NM_020163 SEMA3G EXON Missense_A676D exm321324 3 52470003 [T/G] NM_020163 SEMA3G EXON Nonsense_C655X exm321342 3 52472055 [T/C] NM_020163 SEMA3G EXON Missense_R557H exm321359 3 52473728 [T/C] NM_020163 SEMA3G EXON Missense_E479K exm321364 3 52473930 [T/C] NM_020163 SEMA3G EXON Missense_R443H exm321379 3 52474473 [T/C] NM_020163 SEMA3G EXON Missense_G355R exm321385 3 52474774 [T/C] NM_020163 SEMA3G EXON Missense_V332I exm321386 3 52474788 [A/G] NM_020163 SEMA3G EXON Missense_A327V exm2057510 3 52474789 [T/C] NM_020163 SEMA3G EXON Missense_A327T exm321411 3 52475405 [T/C] NM_020163 SEMA3G EXON Missense_A230T exm321427 3 52475886 [A/G] NM_020163 SEMA3G EXON Missense_R167W exm321439 3 52476767 [T/C] NM_020163 SEMA3G EXON Missense_R91Q exm321445 3 52476839 [T/C] NM_020163 SEMA3G EXON Missense_R67Q exm321449 3 52476899 [A/G] NM_020163 SEMA3G EXON Missense_A47V exm2261511 3 52477866 [T/C] NM_020163 SEMA3G Silent exm321470 3 52486123 [A/G] NM_003280 TNNC1 EXON Synonymous_D67D exm321506 3 52505834 [A/T] NM_007184,NM_001276293,NM_001276294 NISCH,NISCH,NISCH EXON Missense_E138D,Missense_E138D,Missense_E138D exm321512 3 52505935 [A/G] NM_007184,NM_001276293,NM_001276294 NISCH,NISCH,NISCH EXON Missense_D172G,Missense_D172G,Missense_D172G exm321517 3 52506367 [T/C] NM_007184,NM_001276293,NM_001276294 NISCH,NISCH,NISCH EXON Missense_L208F,Missense_L208F,Missense_L208F exm321521 3 52506388 [A/G] NM_007184,NM_001276293,NM_001276294 NISCH,NISCH,NISCH EXON Missense_I215V,Missense_I215V,Missense_I215V exm-rs6784615 3 52506426 [T/C] NM_007184,NM_001276293,NM_001276294 NISCH,NISCH,NISCH Silent,Silent,Silent exm321525 3 52507769 [A/G] NM_007184,NM_001276293,NM_001276294 NISCH,NISCH,NISCH EXON Missense_K230R,Missense_K230R,Missense_K230R exm321528 3 52507789 [A/G] NM_007184,NM_001276293,NM_001276294 NISCH,NISCH,NISCH EXON Missense_A237T,Missense_A237T,Missense_A237T exm321529 3 52507793 [T/C] NM_007184,NM_001276293,NM_001276294 NISCH,NISCH,NISCH EXON Missense_S238L,Missense_S238L,Missense_S238L exm321534 3 52510484 [T/A] NM_007184,NM_001276293,NM_001276294 NISCH,NISCH,NISCH EXON Missense_S263T,Missense_S263T,Missense_S263T exm321540 3 52510592 [A/G] NM_007184,NM_001276293,NM_001276294 NISCH,NISCH,NISCH EXON Missense_V299I,Missense_V299I,Missense_V299I exm321543 3 52510604 [A/G] NM_007184,NM_001276293,NM_001276294 NISCH,NISCH,NISCH EXON Missense_D303N,Missense_D303N,Missense_D303N exm321561 3 52513841 [A/G] NM_007184,NM_001276293,NM_001276294 NISCH,NISCH,NISCH EXON Missense_K460R,Missense_K460R,Missense_K460R exm321570 3 52518567 [T/C] NM_007184 NISCH EXON Missense_L523F exm321604 3 52521558 [A/G] NM_007184 NISCH EXON Missense_E684K exm321614 3 52521711 [A/G] NM_007184 NISCH EXON Missense_G735S exm321616 3 52521757 [A/G] NM_007184 NISCH EXON Missense_S750N exm321623 3 52521865 [A/G] NM_007184 NISCH EXON Missense_H786R exm321627 3 52521897 [A/G] NM_007184 NISCH EXON Missense_A797T exm321643 3 52522119 [A/G] NM_007184 NISCH EXON Missense_A871T exm321653 3 52522218 [A/G] NM_007184 NISCH EXON Missense_A904T exm321659 3 52522297 [A/G] NM_007184 NISCH EXON Missense_R930H exm321678 3 52522591 [T/C] NM_007184 NISCH EXON Missense_A1028V exm321711 3 52525466 [T/C] NM_007184 NISCH EXON Missense_R1281C exm321716 3 52525923 [T/C] NM_007184 NISCH EXON Missense_R1314C exm2057621 3 52526372 [T/G] NM_007184 NISCH EXON Missense_Q1463H exm321738 3 52526395 [T/G] NM_007184 NISCH EXON Missense_V1471G exm-rs13326165 3 52532118 [A/G] NM_015136 STAB1 Silent exm2239923 3 52535264 [T/C] NM_015136 STAB1 EXON Missense_T54M exm321760 3 52535760 [T/C] NM_015136 STAB1 EXON Missense_R108W exm321762 3 52535766 [T/C] NM_015136 STAB1 EXON Missense_H110Y exm321765 3 52536185 [A/G] NM_015136 STAB1 EXON Missense_R143H exm321772 3 52536686 [T/C] NM_015136 STAB1 EXON Missense_R176C exm321778 3 52537083 [A/T] NM_015136 STAB1 EXON Missense_R218W exm321782 3 52537122 [T/C] NM_015136 STAB1 EXON Nonsense_R231X exm321787 3 52537448 [T/G] NM_015136 STAB1 EXON Missense_E261D exm321788 3 52537450 [A/C] NM_015136 STAB1 EXON Missense_N262T exm321791 3 52537479 [T/C] NM_015136 STAB1 EXON Missense_P272S exm321816 3 52538507 [T/C] NM_015136 STAB1 EXON Missense_A394V exm321819 3 52538565 [T/C] NM_015136 STAB1 EXON Synonymous_N413N exm2239928 3 52539335 [A/G] NM_015136 STAB1 EXON Missense_R507G exm321829 3 52539369 [T/C] NM_015136 STAB1 EXON Missense_A518V exm321835 3 52539765 [T/C] NM_015136 STAB1 EXON Missense_R555C exm321850 3 52540712 [A/G] NM_015136 STAB1 EXON Missense_R612H exm321863 3 52541692 [G/C] NM_015136 STAB1 Silent exm321872 3 52542291 [A/T] NM_015136 STAB1 EXON Missense_E717D exm321875 3 52542329 [T/C] NM_015136 STAB1 EXON Missense_T730M exm321878 3 52542354 [A/C] NM_015136 STAB1 EXON Missense_N738K exm321882 3 52543247 [A/G] NM_015136 STAB1 EXON Missense_N753D exm321887 3 52543906 [A/C] NM_015136 STAB1 EXON Missense_L790I exm321906 3 52544470 [A/G] NM_015136 STAB1 EXON Missense_M912V exm321913 3 52545733 [A/G] NM_015136 STAB1 EXON Missense_R952Q exm321923 3 52546403 [A/C] NM_015136 STAB1 EXON Missense_P977H exm321936 3 52546872 [A/G] NM_015136 STAB1 EXON Missense_R1019H exm321939 3 52546895 [T/C] NM_015136 STAB1 EXON Missense_S1027P exm321940 3 52546910 [T/C] NM_015136 STAB1 EXON Missense_R1032C exm321958 3 52547915 [A/G] NM_015136 STAB1 EXON Missense_R1122Q exm2239931 3 52547929 [G/C] NM_015136 STAB1 EXON Missense_G1127R exm321967 3 52548189 [A/C] NM_015136 STAB1 EXON Missense_T1169N exm321968 3 52548194 [T/C] NM_015136 STAB1 EXON Missense_R1171C exm321974 3 52548465 [T/C] NM_015136 STAB1 EXON Missense_L1211F exm321979 3 52548768 [T/C] NM_015136 STAB1 EXON Missense_R1244C exm321980 3 52548787 [T/C] NM_015136 STAB1 EXON Missense_S1250L exm321990 3 52549061 [A/G] NM_015136 STAB1 EXON Synonymous_Q1288Q exm322004 3 52550173 [A/G] NM_015136 STAB1 EXON Missense_E1355K exm322013 3 52550569 [T/C] NM_015136 STAB1 EXON Missense_P1418S exm322015 3 52550590 [A/G] NM_015136 STAB1 EXON Missense_D1425N exm322017 3 52550722 [T/C] NM_015136 STAB1 EXON Missense_S1434L exm322018 3 52550727 [A/G] NM_015136 STAB1 EXON Missense_G1436R exm2256083 3 52551010 [T/C] NM_015136 STAB1 EXON Synonymous_P1458P exm322026 3 52551020 [C/G] NM_015136 STAB1 EXON Missense_G1462R exm322039 3 52551566 [G/C] NM_015136 STAB1 EXON Missense_V1522L exm322048 3 52551966 [A/G] NM_015136 STAB1 EXON Missense_D1570N exm322050 3 52551973 [T/C] NM_015136 STAB1 EXON Missense_A1572V exm322052 3 52551981 [A/G] NM_015136 STAB1 EXON Missense_V1575M exm322058 3 52552014 [A/G] NM_015136 STAB1 EXON Missense_G1586S exm322095 3 52553540 [G/C] NM_015136 STAB1 EXON Missense_A1732G exm322097 3 52553551 [A/G] NM_015136 STAB1 EXON Missense_G1736S exm322123 3 52554304 [G/C] NM_015136 STAB1 EXON Missense_A1833P exm322128 3 52554467 [T/C] NM_015136 STAB1 EXON Missense_P1851S exm322144 3 52554940 [A/G] NM_015136 STAB1 EXON Missense_G1943S exm322149 3 52555418 [A/G] NM_015136 STAB1 EXON Missense_V1984M exm322152 3 52555460 [T/C] NM_015136 STAB1 EXON Missense_R1998C exm322164 3 52555884 [T/C] NM_015136 STAB1 EXON Missense_P2063L exm322167 3 52555933 [C/G] NM_015136 STAB1 EXON Missense_S2079R exm322168 3 52555947 [C/G] NM_015136 STAB1 EXON Missense_G2084A exm322170 3 52555958 [A/G] NM_015136 STAB1 EXON Missense_V2088M exm322175 3 52556127 [A/G] NM_015136 STAB1 EXON Missense_T2116A exm322176 3 52556145 [A/G] NM_015136 STAB1 EXON Missense_D2122N exm2239932 3 52556168 [G/C] NM_015136 STAB1 EXON Missense_S2129R exm322178 3 52556184 [C/G] NM_015136 STAB1 EXON Missense_P2135A exm322197 3 52556651 [A/G] NM_015136 STAB1 EXON Missense_E2231K exm322209 3 52557059 [A/G] NM_015136 STAB1 EXON Missense_R2310Q exm2057844 3 52557356 [T/C] NM_015136 STAB1 EXON Missense_M2380T exm322227 3 52557527 [A/G] NM_015136 STAB1 EXON Missense_A2409T exm2275674 3 52557693 [A/G] NM_015136 STAB1 EXON Missense_R2439H exm322233 3 52557705 [A/G] NM_015136 STAB1 EXON Nonsense_W2443X exm322236 3 52557921 [T/C] NM_015136 STAB1 EXON Missense_A2477V exm322238 3 52557945 [T/C] NM_015136 STAB1 EXON Missense_A2485V exm322245 3 52558008 [T/C] NM_015136 STAB1 EXON Missense_M2506T exm322251 3 52558137 [A/G] NM_015136 STAB1 EXON Missense_D2522N exm2256085 3 52558226 [T/C] NM_015136 STAB1 EXON Synonymous_F2551F exm322264 3 52558490 [T/C] NM_015136,NM_022908,NM_001134231 STAB1,NT5DC2,NT5DC2 EXON Silent,Missense_R520H,Missense_R557H exm322281 3 52558884 [A/G] NM_022908,NM_001134231 NT5DC2,NT5DC2 EXON Missense_A417V,Missense_A454V exm322282 3 52558894 [A/G] NM_022908,NM_001134231 NT5DC2,NT5DC2 EXON Missense_Y414H,Missense_Y451H exm322289 3 52559025 [A/G] NM_022908,NM_001134231 NT5DC2,NT5DC2 EXON Missense_S397L,Missense_S434L exm322293 3 52559085 [A/G] NM_022908,NM_001134231 NT5DC2,NT5DC2 EXON Missense_A377V,Missense_A414V exm322300 3 52559251 [T/C] NM_022908,NM_001134231 NT5DC2,NT5DC2 EXON Missense_G357R,Missense_G394R exm322309 3 52561347 [T/C] NM_022908,NM_001134231 NT5DC2,NT5DC2 EXON Missense_R324Q,Missense_R361Q exm322321 3 52561846 [T/C] NM_022908,NM_001134231 NT5DC2,NT5DC2 EXON Missense_V275I,Missense_V312I exm2057878 3 52562211 [G/C] NM_022908,NM_001134231 NT5DC2,NT5DC2 EXON Nonsense_Y216X,Nonsense_Y253X exm322348 3 52562903 [A/G] NM_022908,NM_001134231 NT5DC2,NT5DC2 EXON Missense_R119C,Missense_R156C exm322358 3 52563199 [A/T] NM_022908,NM_001134231 NT5DC2,NT5DC2 EXON Missense_S91R,Missense_S128R exm322363 3 52563279 [A/G] NM_022908,NM_001134231 NT5DC2,NT5DC2 EXON Missense_R65C,Missense_R102C exm322366 3 52563300 [T/C] NM_022908,NM_001134231 NT5DC2,NT5DC2 EXON Missense_A58T,Missense_A95T exm322375 3 52568562 [T/G] NM_022908 NT5DC2 EXON Missense_N36K exm322379 3 52568641 [T/C] NM_022908 NT5DC2 EXON Missense_E10G exm322384 3 52570892 [A/G] NM_001124767 SMIM4 EXON Missense_I41V exm322392 3 52582210 [A/G] NM_018313 PBRM1 EXON Missense_R1540C exm322400 3 52584478 [A/G] NM_018313 PBRM1 EXON Missense_A1512V exm2273941 3 52584634 [A/G] NM_018313 PBRM1 EXON Missense_P1460L exm-rs2251219 3 52584787 [T/C] NM_018313 PBRM1 EXON Synonymous_P1445P exm322419 3 52597433 [T/C] NM_018313 PBRM1 EXON Missense_E1293K exm322437 3 52613205 [A/T] NM_018313 PBRM1 EXON Missense_D1108V exm322443 3 52620536 [A/C] NM_018313 PBRM1 EXON Missense_A1073S exm322448 3 52620675 [G/C] NM_018313 PBRM1 EXON Missense_F1026L exm322454 3 52623136 [T/C] NM_018313 PBRM1 EXON Missense_N972S exm322455 3 52623182 [T/C] NM_018313 PBRM1 EXON Missense_M957V exm322457 3 52623229 [A/G] NM_018313 PBRM1 EXON Missense_S941L exm322473 3 52643617 [T/C] NM_018313 PBRM1 EXON Missense_R760H exm322484 3 52649453 [A/G] NM_018313 PBRM1 EXON Missense_I613T exm322491 3 52661368 [A/C] NM_018313 PBRM1 EXON Missense_A488S exm322500 3 52668701 [T/G] NM_018313 PBRM1 EXON Missense_E406D exm322502 3 52668826 [A/G] NM_018313 PBRM1 EXON Missense_R365C exm2263987 3 52719398 [A/C] NM_018313 PBRM1 Silent exm322556 3 52721305 [A/G] NM_206825,NM_206826,NM_014366 GNL3,GNL3,GNL3 EXON Missense_R27Q,Missense_R27Q,Missense_R39Q exm322560 3 52721545 [T/C] NM_206825,NM_206826,NM_014366 GNL3,GNL3,GNL3 EXON Missense_L68F,Missense_L68F,Missense_L80F exm322567 3 52723208 [T/C] NM_206825,NM_206826,NM_014366 GNL3,GNL3,GNL3 EXON Missense_I164T,Missense_I164T,Missense_I176T exm322574 3 52724713 [T/A] NM_206825,NM_206826,NM_014366 GNL3,GNL3,GNL3 EXON Missense_I204K,Missense_I204K,Missense_I216K exm322578 3 52724973 [T/A] NM_206825,NM_206826,NM_014366 GNL3,GNL3,GNL3 EXON Nonsense_K211X,Nonsense_K211X,Nonsense_K223X exm322581 3 52725000 [A/G] NM_206825,NM_206826,NM_014366 GNL3,GNL3,GNL3 EXON Missense_E220K,Missense_E220K,Missense_E232K exm322585 3 52725626 [A/G] NM_206825,NM_206826,NM_014366 GNL3,GNL3,GNL3 EXON Missense_V272I,Missense_V272I,Missense_V284I exm322592 3 52726942 [G/C] NM_206825,NM_206826,NM_014366 GNL3,GNL3,GNL3 EXON Missense_S296R,Missense_S296R,Missense_S308R exm2239945 3 52727019 [T/C] NM_206825,NM_206826,NM_014366 GNL3,GNL3,GNL3 EXON Missense_M322T,Missense_M322T,Missense_M334T exm2256086 3 52727217 [T/C] NM_206825,NM_206826,NM_014366 GNL3,GNL3,GNL3 EXON Synonymous_Y341Y,Synonymous_Y341Y,Synonymous_Y353Y exm322598 3 52727257 [A/G] NM_206825,NM_206826,NM_014366 GNL3,GNL3,GNL3 EXON Missense_V355M,Missense_V355M,Missense_V367M exm322600 3 52727275 [C/G] NM_206825,NM_206826,NM_014366 GNL3,GNL3,GNL3 EXON Missense_G361R,Missense_G361R,Missense_G373R exm322602 3 52727467 [A/C] NM_206825,NM_206826,NM_014366 GNL3,GNL3,GNL3 EXON Missense_P399T,Missense_P399T,Missense_P411T exm322606 3 52727504 [A/T] NM_206825,NM_206826,NM_014366 GNL3,GNL3,GNL3 EXON Missense_M411K,Missense_M411K,Missense_M423K exm322612 3 52727675 [C/G] NM_206825,NM_206826,NM_014366 GNL3,GNL3,GNL3 EXON Missense_S439T,Missense_S439T,Missense_S451T exm322619 3 52727756 [A/G] NM_206825,NM_206826,NM_014366 GNL3,GNL3,GNL3 EXON Missense_E466G,Missense_E466G,Missense_E478G exm322621 3 52727807 [T/C] NM_206825,NM_206826,NM_014366 GNL3,GNL3,GNL3 EXON Missense_V483A,Missense_V483A,Missense_V495A exm322622 3 52728055 [A/C] NM_206825,NM_206826,NM_014366 GNL3,GNL3,GNL3 EXON Missense_E489D,Missense_E489D,Missense_E501D exm322623 3 52728058 [C/G] NM_206825,NM_206826,NM_014366 GNL3,GNL3,GNL3 EXON Missense_N490K,Missense_N490K,Missense_N502K exm322625 3 52728107 [A/G] NM_206825,NM_206826,NM_014366 GNL3,GNL3,GNL3 EXON Missense_E507K,Missense_E507K,Missense_E519K exm322652 3 52729960 [T/C] NM_018446,NM_152932,NM_001010983 GLT8D1,GLT8D1,GLT8D1 EXON Missense_R210H,Missense_R210H,Missense_R210H exm322653 3 52729969 [A/G] NM_018446,NM_152932,NM_001010983 GLT8D1,GLT8D1,GLT8D1 EXON Missense_V207A,Missense_V207A,Missense_V207A exm322667 3 52730675 [T/C] NM_018446,NM_152932,NM_001010983 GLT8D1,GLT8D1,GLT8D1 EXON Synonymous_R110R,Synonymous_R110R,Synonymous_R110R exm322672 3 52731827 [A/G] NM_018446,NM_152932,NM_001010983 GLT8D1,GLT8D1,GLT8D1 EXON Missense_A80V,Missense_A80V,Missense_A80V exm322673 3 52731828 [T/C] NM_018446,NM_152932,NM_001010983 GLT8D1,GLT8D1,GLT8D1 EXON Missense_A80T,Missense_A80T,Missense_A80T exm2277265 3 52731900 [A/G] NM_018446,NM_152932,NM_001010983 GLT8D1,GLT8D1,GLT8D1 EXON Nonsense_R56X,Nonsense_R56X,Nonsense_R56X exm322682 3 52740182 [C/G] NM_014041 SPCS1 EXON Missense_P41A exm322687 3 52740272 [T/C] NM_014041 SPCS1 EXON Missense_H71Y exm2256087 3 52740889 [A/G] NM_014041 SPCS1 EXON Synonymous_S126S exm322699 3 52741712 [C/G] NM_014041 SPCS1 EXON Missense_P132A exm322708 3 52745881 [T/C] NM_003157,NM_001193533 NEK4,NEK4 EXON Missense_R813H,Missense_R724H exm322709 3 52745882 [A/G] NM_003157,NM_001193533 NEK4,NEK4 EXON Missense_R813C,Missense_R724C exm322714 3 52771715 [T/C] NM_003157,NM_001193533 NEK4,NEK4 EXON Missense_K774E,Missense_K685E exm322716 3 52773455 [G/C] NM_003157,NM_001193533 NEK4,NEK4 EXON Missense_E763D,Missense_E674D exm322719 3 52773561 [A/G] NM_003157,NM_001193533 NEK4,NEK4 EXON Missense_P728L,Missense_P639L exm322725 3 52777396 [T/C] NM_003157,NM_001193533 NEK4,NEK4 EXON Missense_R659Q,Missense_R570Q exm322726 3 52777397 [A/G] NM_003157,NM_001193533 NEK4,NEK4 EXON Missense_R659W,Missense_R570W exm322730 3 52780117 [A/G] NM_003157,NM_001193533 NEK4,NEK4 EXON Missense_S596F,Missense_S507F exm322735 3 52780205 [A/G] NM_003157,NM_001193533 NEK4,NEK4 EXON Missense_F567L,Missense_F478L exm322738 3 52780749 [T/C] NM_003157,NM_001193533 NEK4,NEK4 Silent,Silent exm322739 3 52780766 [T/C] NM_003157,NM_001193533 NEK4,NEK4 EXON Missense_R554H,Missense_R465H exm322743 3 52780796 [G/C] NM_003157,NM_001193533 NEK4,NEK4 EXON Missense_T544S,Missense_T455S exm322747 3 52780827 [A/G] NM_003157,NM_001193533 NEK4,NEK4 EXON Nonsense_R534X,Nonsense_R445X exm2058036 3 52780878 [T/G] NM_003157,NM_001193533 NEK4,NEK4 EXON Missense_I517L,Missense_I428L exm322759 3 52786054 [A/G] NM_003157,NM_001193533 NEK4,NEK4 EXON Missense_P421L,Missense_P332L exm322763 3 52786165 [T/A] NM_003157,NM_001193533 NEK4,NEK4 EXON Missense_Q384L,Missense_Q295L exm322766 3 52786246 [A/G] NM_003157,NM_001193533 NEK4,NEK4 EXON Missense_T357I,Missense_T268I exm2239952 3 52794833 [T/C] NM_003157,NM_001193533 NEK4,NEK4 EXON Missense_E314G,Missense_E225G exm322772 3 52797487 [T/C] NM_003157,NM_001193533 NEK4,NEK4 EXON Missense_I274V,Missense_I185V exm322774 3 52797634 [G/C] NM_003157,NM_001193533 NEK4,NEK4 EXON Missense_P225A,Missense_P136A exm322776 3 52799944 [T/C] NM_003157,NM_001193533 NEK4,NEK4 EXON Missense_K209E,Missense_K120E exm322795 3 52802581 [A/G] NM_003157,NM_001193533 NEK4,NEK4 EXON Nonsense_R45X,Silent exm322799 3 52811645 [T/C] NM_002215 ITIH1 EXON Missense_M5T exm322815 3 52812368 [A/G] NM_002215 ITIH1 EXON Missense_V51M exm322818 3 52812386 [A/G] NM_002215 ITIH1 EXON Missense_K57E exm322819 3 52812410 [T/C] NM_002215 ITIH1 EXON Missense_R65C exm322825 3 52812960 [T/C] NM_002215,NM_001166434 ITIH1,ITIH1 EXON Missense_T103I,Silent exm322847 3 52814349 [T/C] NM_002215,NM_001166434,NM_001166435,NM_001166436 ITIH1,ITIH1,ITIH1,ITIH1 EXON Missense_P213L,Missense_P71L,Silent,Silent exm322851 3 52815977 [A/G] NM_002215,NM_001166434,NM_001166435,NM_001166436 ITIH1,ITIH1,ITIH1,ITIH1 EXON Missense_T237A,Missense_T95A,Silent,Silent exm322858 3 52816252 [C/G] NM_002215,NM_001166434,NM_001166435,NM_001166436 ITIH1,ITIH1,ITIH1,ITIH1 EXON Missense_S300T,Missense_S158T,Missense_S12T,Missense_S12T exm322861 3 52817048 [T/C] NM_002215,NM_001166434,NM_001166435,NM_001166436 ITIH1,ITIH1,ITIH1,ITIH1 EXON Nonsense_R336X,Nonsense_R194X,Nonsense_R48X,Nonsense_R48X exm322865 3 52817130 [A/C] NM_002215,NM_001166434,NM_001166435,NM_001166436 ITIH1,ITIH1,ITIH1,ITIH1 EXON Missense_S363Y,Missense_S221Y,Missense_S75Y,Missense_S75Y exm322869 3 52817142 [A/G] NM_002215,NM_001166434,NM_001166435,NM_001166436 ITIH1,ITIH1,ITIH1,ITIH1 Silent,Silent,Silent,Silent exm322873 3 52817256 [T/C] NM_002215,NM_001166434,NM_001166435,NM_001166436 ITIH1,ITIH1,ITIH1,ITIH1 EXON Missense_R376W,Missense_R234W,Missense_R88W,Missense_R88W exm322878 3 52817343 [A/G] NM_002215,NM_001166434,NM_001166435,NM_001166436 ITIH1,ITIH1,ITIH1,ITIH1 EXON Missense_D405N,Missense_D263N,Missense_D117N,Missense_D117N exm322889 3 52818419 [G/C] NM_002215,NM_001166434,NM_001166435,NM_001166436 ITIH1,ITIH1,ITIH1,ITIH1 EXON Missense_E445Q,Missense_E303Q,Missense_E157Q,Missense_E157Q exm322891 3 52818443 [A/G] NM_002215,NM_001166434,NM_001166435,NM_001166436 ITIH1,ITIH1,ITIH1,ITIH1 EXON Missense_G453R,Missense_G311R,Missense_G165R,Missense_G165R exm322892 3 52818446 [T/C] NM_002215,NM_001166434,NM_001166435,NM_001166436 ITIH1,ITIH1,ITIH1,ITIH1 EXON Missense_R454W,Missense_R312W,Missense_R166W,Missense_R166W exm2058087 3 52819061 [G/C] NM_002215,NM_001166434,NM_001166435,NM_001166436 ITIH1,ITIH1,ITIH1,ITIH1 EXON Missense_G470A,Missense_G328A,Missense_G182A,Missense_G182A exm322906 3 52820356 [A/G] NM_002215,NM_001166434,NM_001166435,NM_001166436 ITIH1,ITIH1,ITIH1,ITIH1 EXON Missense_M547V,Missense_M405V,Missense_M259V,Missense_M259V exm322914 3 52820450 [A/G] NM_002215,NM_001166434,NM_001166435,NM_001166436 ITIH1,ITIH1,ITIH1,ITIH1 EXON Missense_R578Q,Missense_R436Q,Missense_R290Q,Missense_R290Q exm322918 3 52821011 [A/G] NM_002215,NM_001166434,NM_001166435,NM_001166436 ITIH1,ITIH1,ITIH1,ITIH1 EXON Missense_Q595R,Missense_Q453R,Missense_Q307R,Missense_Q307R exm322928 3 52821210 [T/C] NM_002215,NM_001166434,NM_001166435,NM_001166436 ITIH1,ITIH1,ITIH1,ITIH1 EXON Missense_P632L,Missense_P490L,Missense_P344L,Missense_P344L exm322943 3 52822079 [A/G] NM_002215,NM_001166434,NM_001166435,NM_001166436 ITIH1,ITIH1,ITIH1,ITIH1 EXON Missense_G668S,Missense_G526S,Missense_G380S,Missense_G380S exm322949 3 52822314 [A/G] NM_002215,NM_001166434,NM_001166435,NM_001166436 ITIH1,ITIH1,ITIH1,ITIH1 EXON Missense_N691S,Missense_N549S,Missense_N403S,Missense_N403S exm322959 3 52823743 [T/C] NM_002215,NM_001166434,NM_001166435,NM_001166436 ITIH1,ITIH1,ITIH1,ITIH1 EXON Missense_R732W,Missense_R590W,Missense_R444W,Missense_R444W exm322968 3 52824821 [A/G] NM_002215,NM_001166434,NM_001166435,NM_001166436 ITIH1,ITIH1,ITIH1,ITIH1 EXON Missense_G793D,Missense_G651D,Missense_G505D,Missense_G505D exm322970 3 52824845 [A/G] NM_002215,NM_001166434,NM_001166435,NM_001166436 ITIH1,ITIH1,ITIH1,ITIH1 EXON Missense_R801Q,Missense_R659Q,Missense_R513Q,Missense_R513Q exm322973 3 52824868 [T/C] NM_002215,NM_001166434,NM_001166435,NM_001166436 ITIH1,ITIH1,ITIH1,ITIH1 EXON Missense_H809Y,Missense_H667Y,Missense_H521Y,Missense_H521Y exm322974 3 52824890 [A/G] NM_002215,NM_001166434,NM_001166435,NM_001166436 ITIH1,ITIH1,ITIH1,ITIH1 EXON Missense_Y816C,Missense_Y674C,Missense_Y528C,Missense_Y528C exm322977 3 52824920 [A/G] NM_002215,NM_001166434,NM_001166435,NM_001166436 ITIH1,ITIH1,ITIH1,ITIH1 EXON Missense_R826Q,Missense_R684Q,Missense_R538Q,Missense_R538Q exm322985 3 52825574 [T/C] NM_002215,NM_001166434,NM_001166435,NM_001166436 ITIH1,ITIH1,ITIH1,ITIH1 EXON Missense_H846Y,Missense_H704Y,Missense_H558Y,Missense_H558Y exm322994 3 52825833 [A/G] NM_002215,NM_001166434,NM_001166435,NM_001166436 ITIH1,ITIH1,ITIH1,ITIH1 EXON Missense_H881R,Missense_H739R,Missense_H593R,Missense_H593R exm323010 3 52830527 [A/G] NM_002217 ITIH3 EXON Missense_K49E exm323015 3 52830584 [A/G] NM_002217 ITIH3 EXON Missense_V68I exm323038 3 52833078 [A/G] NM_002217 ITIH3 EXON Missense_V254M exm-rs2535629 3 52833219 [A/G] NM_002217 ITIH3 Silent exm323044 3 52833805 [A/C] NM_002217 ITIH3 EXON Missense_Q315K exm2256089 3 52833885 [T/C] NM_002217 ITIH3 EXON Synonymous_P341P exm323052 3 52833924 [A/G] NM_002217 ITIH3 EXON Missense_M354I exm323054 3 52834608 [A/G] NM_002217 ITIH3 EXON Missense_R377Q exm323055 3 52834626 [T/C] NM_002217 ITIH3 EXON Missense_P383L exm323057 3 52834667 [A/G] NM_002217 ITIH3 EXON Missense_D397N exm323060 3 52835032 [A/G] NM_002217 ITIH3 EXON Missense_G418D exm323065 3 52835122 [A/G] NM_002217 ITIH3 EXON Missense_R448Q exm323074 3 52836397 [A/G] NM_002217 ITIH3 EXON Missense_M477I exm2273942 3 52836483 [A/G] NM_002217 ITIH3 EXON Missense_R506H exm323082 3 52836533 [A/G] NM_002217 ITIH3 EXON Missense_G523R exm323084 3 52836693 [A/G] NM_002217 ITIH3 EXON Missense_D527G exm323086 3 52836750 [A/G] NM_002217 ITIH3 EXON Missense_R546Q exm323090 3 52836800 [A/G] NM_002217 ITIH3 EXON Missense_I563V exm323098 3 52837989 [A/G] NM_002217 ITIH3 EXON Missense_E610K exm2058164 3 52840130 [T/C] NM_002217 ITIH3 EXON Missense_P640S exm323108 3 52840131 [T/C] NM_002217 ITIH3 EXON Missense_P640L exm323110 3 52840313 [A/C] NM_002217 ITIH3 EXON Missense_D649E exm323112 3 52840342 [T/C] NM_002217 ITIH3 EXON Missense_P659L exm323118 3 52840983 [T/C] NM_002217 ITIH3 EXON Missense_T708I exm323123 3 52841072 [A/G] NM_002217 ITIH3 EXON Missense_V738M exm323124 3 52841076 [T/C] NM_002217 ITIH3 EXON Missense_P739L exm323126 3 52841111 [A/G] NM_002217 ITIH3 EXON Missense_T751A exm323129 3 52841772 [A/G] NM_002217 ITIH3 EXON Missense_M757I exm323134 3 52841867 [A/G] NM_002217 ITIH3 EXON Missense_R789H exm323136 3 52842167 [T/C] NM_002217 ITIH3 EXON Missense_R825W exm323137 3 52842168 [A/G] NM_002217 ITIH3 EXON Missense_R825Q exm323148 3 52842625 [A/G] NM_002217 ITIH3 EXON Nonsense_W867X exm323162 3 52848027 [A/G] NM_002218,NM_001166449 ITIH4,ITIH4 EXON Missense_T896M,Missense_T866M exm323163 3 52848030 [T/C] NM_002218,NM_001166449 ITIH4,ITIH4 EXON Missense_R895H,Missense_R865H exm323164 3 52848037 [T/C] NM_002218,NM_001166449 ITIH4,ITIH4 EXON Missense_G893S,Missense_G863S exm323181 3 52848315 [T/C] NM_002218,NM_001166449 ITIH4,ITIH4 EXON Missense_G846S,Missense_G816S exm323194 3 52852106 [T/C] NM_002218,NM_001166449 ITIH4,ITIH4 EXON Missense_R753H,Missense_R723H exm323196 3 52852131 [A/G] NM_002218,NM_001166449 ITIH4,ITIH4 EXON Missense_R745W,Missense_R715W exm323206 3 52852488 [G/C] NM_002218,NM_001166449 ITIH4,ITIH4 EXON Missense_M714I,Missense_M684I exm323211 3 52852538 [T/G] NM_002218,NM_001166449 ITIH4,ITIH4 EXON Missense_P698T,Missense_P668T exm323216 3 52853420 [T/C] NM_002218,NM_001166449 ITIH4,ITIH4 EXON Missense_R689H,Missense_R659H exm323218 3 52853480 [A/T] NM_002218,NM_001166449 ITIH4,ITIH4 EXON Missense_Q669L,Missense_Q639L exm323251 3 52857612 [T/C] NM_002218,NM_001166449 ITIH4,ITIH4 EXON Missense_R500Q,Missense_R500Q exm323272 3 52857931 [T/C] NM_002218,NM_001166449 ITIH4,ITIH4 EXON Missense_V421I,Missense_V421I exm323274 3 52857940 [T/C] NM_002218,NM_001166449 ITIH4,ITIH4 EXON Missense_G418S,Missense_G418S exm323278 3 52857988 [T/C] NM_002218,NM_001166449 ITIH4,ITIH4 EXON Missense_V402M,Missense_V402M exm323283 3 52858242 [C/G] NM_002218,NM_001166449 ITIH4,ITIH4 EXON Missense_L379V,Missense_L379V exm323284 3 52858257 [A/C] NM_002218,NM_001166449 ITIH4,ITIH4 EXON Nonsense_E374X,Nonsense_E374X exm323289 3 52858433 [A/G] NM_002218,NM_001166449 ITIH4,ITIH4 EXON Missense_A342V,Missense_A342V exm323295 3 52858526 [T/G] NM_002218,NM_001166449 ITIH4,ITIH4 EXON Missense_N311T,Missense_N311T exm323301 3 52858938 [T/C] NM_002218,NM_001166449 ITIH4,ITIH4 EXON Missense_E266K,Missense_E266K exm323308 3 52859916 [G/C] NM_002218,NM_001166449 ITIH4,ITIH4 EXON Missense_G249R,Missense_G249R exm323312 3 52860002 [G/C] NM_002218,NM_001166449 ITIH4,ITIH4 EXON Missense_S220C,Missense_S220C exm323321 3 52860854 [T/C] NM_002218,NM_001166449 ITIH4,ITIH4 EXON Missense_E158K,Missense_E158K exm323326 3 52860904 [T/G] NM_002218,NM_001166449 ITIH4,ITIH4 EXON Missense_T141N,Missense_T141N exm323331 3 52861142 [A/G] NM_002218,NM_001166449 ITIH4,ITIH4 EXON Missense_A108V,Missense_A108V exm323332 3 52861211 [T/A] NM_002218,NM_001166449 ITIH4,ITIH4 EXON Missense_I85N,Missense_I85N exm323334 3 52863155 [A/G] NM_002218,NM_001166449 ITIH4,ITIH4 EXON Synonymous_A77A,Synonymous_A77A exm323346 3 52864631 [A/C] NM_002218,NM_001166449 ITIH4,ITIH4 EXON Missense_C10G,Missense_C10G exm323355 3 52867366 [T/C] NM_205853,NM_001198974 MUSTN1,TMEM110-MUSTN1 EXON Missense_G75R,Missense_G365R exm323356 3 52867393 [T/C] NM_205853,NM_001198974 MUSTN1,TMEM110-MUSTN1 EXON Missense_E66K,Missense_E356K exm323357 3 52867404 [T/C] NM_205853,NM_001198974 MUSTN1,TMEM110-MUSTN1 EXON Missense_R62H,Missense_R352H exm2256091 3 52867409 [A/G] NM_205853,NM_001198974 MUSTN1,TMEM110-MUSTN1 EXON Synonymous_R60R,Synonymous_R350R exm323361 3 52867434 [A/G] NM_205853,NM_001198974 MUSTN1,TMEM110-MUSTN1 EXON Missense_S52L,Missense_S342L exm323364 3 52867715 [G/C] NM_205853,NM_001198974 MUSTN1,TMEM110-MUSTN1 EXON Missense_D20E,Missense_D310E exm323366 3 52867731 [T/C] NM_205853,NM_001198974 MUSTN1,TMEM110-MUSTN1 EXON Missense_R15H,Missense_R305H exm2273943 3 52867744 [A/T] NM_205853,NM_001198974 MUSTN1,TMEM110-MUSTN1 EXON Missense_I11F,Missense_I301F exm2273373 3 52874288 [T/C] NM_001198974,NM_198563 TMEM110-MUSTN1,TMEM110 EXON Silent,Silent exm323383 3 52876853 [T/C] NM_001198974,NM_198563 TMEM110-MUSTN1,TMEM110 EXON Missense_A248T,Missense_A248T exm323392 3 52878907 [T/C] NM_001198974,NM_198563 TMEM110-MUSTN1,TMEM110 EXON Missense_V160M,Missense_V160M exm323399 3 52883862 [T/C] NM_001198974,NM_198563 TMEM110-MUSTN1,TMEM110 EXON Missense_V125I,Missense_V125I exm323415 3 52939156 [T/C] NM_016329 SFMBT1 EXON Missense_N866S exm323416 3 52939210 [T/C] NM_016329 SFMBT1 EXON Missense_K848R exm2058283 3 52941099 [A/G] NM_016329 SFMBT1 EXON Missense_P773S exm323453 3 52954565 [A/G] NM_016329 SFMBT1 EXON Missense_R454C exm323471 3 52962314 [A/C] NM_016329 SFMBT1 EXON Missense_R314L exm323488 3 52966269 [T/C] NM_016329 SFMBT1 EXON Missense_C170Y exm323492 3 52968842 [A/G] NM_016329 SFMBT1 EXON Missense_P147L exm323500 3 52977431 [T/C] NM_016329 SFMBT1 EXON Missense_K101R exm323501 3 52977519 [T/C] NM_016329 SFMBT1 EXON Missense_V72I exm323504 3 52977600 [A/G] NM_016329 SFMBT1 EXON Missense_R45C exm323508 3 52988425 [T/C] NM_016329 SFMBT1 EXON Missense_A11T exm-rs2336725 3 53118739 [T/C] exm323524 3 53126016 [T/C] NM_052859 RFT1 EXON Missense_G510E exm323528 3 53126443 [A/C] NM_052859 RFT1 EXON Missense_L467R exm323538 3 53126512 [A/G] NM_052859 RFT1 EXON Missense_T444M exm323548 3 53133472 [T/C] NM_052859 RFT1 EXON Missense_Y378C exm323549 3 53133487 [T/C] NM_052859 RFT1 EXON Missense_R373H exm323553 3 53137970 [A/G] NM_052859 RFT1 EXON Synonymous_S367S exm323555 3 53138022 [T/C] NM_052859 RFT1 EXON Missense_Y350C exm2058332 3 53153964 [A/G] NM_052859 RFT1 EXON Missense_T211I exm323577 3 53155720 [T/C] NM_052859 RFT1 EXON Missense_A185T exm323580 3 53156410 [A/G] NM_052859 RFT1 EXON Missense_H146Y exm323582 3 53156464 [A/G] NM_052859 RFT1 EXON Missense_L128F exm323591 3 53159938 [T/C] NM_052859 RFT1 EXON Missense_V46I exm323594 3 53159964 [T/C] NM_052859 RFT1 EXON Missense_R37H exm323595 3 53159970 [A/G] NM_052859 RFT1 EXON Missense_I35T exm323597 3 53164354 [T/C] NM_052859 RFT1 EXON Synonymous_Q21Q exm323598 3 53164370 [G/C] NM_052859 RFT1 EXON Missense_S16C exm323601 3 53164412 [T/C] NM_052859 RFT1 EXON Missense_G2D exm323603 3 53212506 [T/C] NM_006254,NM_212539 PRKCD,PRKCD EXON Missense_A23V,Missense_A23V exm323614 3 53213691 [C/G] NM_006254,NM_212539 PRKCD,PRKCD EXON Missense_V72L,Missense_V72L exm323625 3 53215478 [A/G] NM_006254,NM_212539 PRKCD,PRKCD EXON Missense_R132H,Missense_R132H exm2256094 3 53218942 [T/C] NM_006254,NM_212539 PRKCD,PRKCD EXON Synonymous_C280C,Synonymous_C280C exm323657 3 53219630 [A/G] NM_006254,NM_212539 PRKCD,PRKCD EXON Missense_R300Q,Missense_R300Q exm323666 3 53220000 [A/G] NM_006254,NM_212539 PRKCD,PRKCD EXON Missense_N348S,Missense_N348S exm323670 3 53220309 [A/G] NM_006254,NM_212539 PRKCD,PRKCD EXON Missense_A405T,Missense_A405T exm323684 3 53222767 [T/C] NM_006254,NM_212539 PRKCD,PRKCD EXON Missense_R483W,Missense_R483W exm2256095 3 53222820 [T/C] NM_006254,NM_212539 PRKCD,PRKCD EXON Synonymous_F500F,Synonymous_F500F exm323686 3 53222820 [T/C] NM_006254,NM_212539 PRKCD,PRKCD EXON Synonymous_F500F,Synonymous_F500F exm323693 3 53223210 [T/C] NM_006254,NM_212539 PRKCD,PRKCD EXON Missense_T564M,Missense_T564M exm323694 3 53223224 [T/C] NM_006254,NM_212539 PRKCD,PRKCD EXON Missense_R569C,Missense_R569C exm323695 3 53223225 [A/G] NM_006254,NM_212539 PRKCD,PRKCD EXON Missense_R569H,Missense_R569H exm323698 3 53223926 [T/C] NM_006254,NM_212539 PRKCD,PRKCD EXON Missense_T594I,Missense_T594I exm323712 3 53226232 [A/G] NM_006254,NM_212539 PRKCD,PRKCD EXON Missense_A661T,Missense_A661T exm323718 3 53259854 [T/C] NM_001135055,NR_047580,NM_001258028,NM_001064 TKT,TKT,TKT,TKT EXON Missense_K597R,Silent,Missense_K605R,Missense_K597R exm323739 3 53262106 [G/C] NM_001135055,NR_047580,NM_001258028,NM_001064 TKT,TKT,TKT,TKT EXON Missense_H513Q,Silent,Missense_H521Q,Missense_H513Q exm323748 3 53263112 [T/C] NM_001135055,NR_047580,NM_001258028,NM_001064 TKT,TKT,TKT,TKT EXON Missense_M436V,Silent,Missense_M444V,Missense_M436V exm323753 3 53263305 [T/C] NM_001135055,NR_047580,NM_001258028,NM_001064 TKT,TKT,TKT,TKT EXON Missense_V419I,Silent,Missense_V427I,Missense_V419I exm323758 3 53263383 [A/G] NM_001135055,NR_047580,NM_001258028,NM_001064 TKT,TKT,TKT,TKT EXON Missense_F393L,Silent,Missense_F401L,Missense_F393L exm323778 3 53265467 [T/A] NM_001135055,NR_047580,NM_001258028,NM_001064 TKT,TKT,TKT,TKT EXON Missense_K283M,Silent,Missense_K291M,Missense_K283M exm323779 3 53265510 [T/G] NM_001135055,NR_047580,NM_001258028,NM_001064 TKT,TKT,TKT,TKT EXON Missense_Q269K,Silent,Missense_Q277K,Missense_Q269K exm323788 3 53267174 [A/G] NM_001135055,NR_047580,NM_001258028,NM_001064 TKT,TKT,TKT,TKT EXON Missense_T249M,Silent,Missense_T257M,Missense_T249M exm323799 3 53269028 [T/G] NM_001135055,NR_047580,NM_001258028,NM_001064 TKT,TKT,TKT,TKT EXON Missense_D200E,Silent,Missense_D208E,Missense_D200E exm323805 3 53269087 [T/C] NM_001135055,NR_047580,NM_001258028,NM_001064 TKT,TKT,TKT,TKT EXON Missense_I181V,Silent,Missense_I189V,Missense_I181V exm323812 3 53274274 [T/C] NM_001135055,NR_047580,NM_001258028,NM_001064 TKT,TKT,TKT,TKT EXON Missense_K144E,Silent,Missense_K144E,Missense_K144E exm323815 3 53274310 [T/C] NM_001135055,NR_047580,NM_001258028,NM_001064 TKT,TKT,TKT,TKT EXON Missense_A132T,Silent,Missense_A132T,Missense_A132T exm323822 3 53275194 [A/G] NM_001135055,NR_047580,NM_001258028,NM_001064 TKT,TKT,TKT,TKT EXON Missense_L98P,Silent,Missense_L98P,Missense_L98P exm323828 3 53276163 [T/C] NM_001135055,NR_047580,NM_001258028,NM_001064 TKT,TKT,TKT,TKT EXON Missense_N68S,Silent,Missense_N68S,Missense_N68S exm323829 3 53276175 [T/C] NM_001135055,NR_047580,NM_001258028,NM_001064 TKT,TKT,TKT,TKT EXON Missense_R64Q,Silent,Missense_R64Q,Missense_R64Q exm2269450 3 53282188 [T/C] NM_001135055,NR_047580,NM_001258028,NM_001064 TKT,TKT,TKT,TKT Silent,Silent,Silent,Silent exm-rs4687718 3 53282303 [A/G] NM_001135055,NR_047580,NM_001258028,NM_001064 TKT,TKT,TKT,TKT Silent,Silent,Silent,Silent exm323846 3 53324848 [G/C] NM_018403 DCP1A EXON Missense_Q474H exm323849 3 53326100 [T/C] NM_018403 DCP1A EXON Missense_Q461R exm323853 3 53326142 [A/G] NM_018403 DCP1A EXON Missense_A447V exm323863 3 53326419 [A/G] NM_018403 DCP1A EXON Missense_L355F exm323867 3 53326467 [T/C] NM_018403 DCP1A EXON Missense_S339G exm323869 3 53326488 [T/G] NM_018403 DCP1A EXON Missense_P332T exm323875 3 53326608 [T/C] NM_018403 DCP1A EXON Missense_V292M exm323942 3 53700459 [T/G] NM_001128840,NM_001128839,NM_000720 CACNA1D,CACNA1D,CACNA1D EXON Missense_V338G,Missense_V338G,Missense_V338G exm323953 3 53736798 [G/C] NM_001128840,NM_001128839,NM_000720 CACNA1D,CACNA1D,CACNA1D EXON Missense_E451Q,Missense_E451Q,Missense_E451Q exm323955 3 53736825 [A/G] NM_001128840,NM_001128839,NM_000720 CACNA1D,CACNA1D,CACNA1D EXON Missense_G460S,Missense_G460S,Missense_G460S exm323956 3 53736832 [A/G] NM_001128840,NM_001128839,NM_000720 CACNA1D,CACNA1D,CACNA1D EXON Missense_R462Q,Missense_R462Q,Missense_R462Q exm323958 3 53736836 [T/G] NM_001128840,NM_001128839,NM_000720 CACNA1D,CACNA1D,CACNA1D EXON Missense_N463K,Missense_N463K,Missense_N463K exm323968 3 53752710 [T/C] NM_001128840,NM_001128839,NM_000720 CACNA1D,CACNA1D,CACNA1D EXON Silent,Silent,Missense_C494R exm2239965 3 53760987 [A/G] NM_001128840,NM_001128839,NM_000720 CACNA1D,CACNA1D,CACNA1D EXON Missense_V728I,Missense_V728I,Missense_V748I exm324001 3 53766050 [T/C] NM_001128840,NM_001128839,NM_000720 CACNA1D,CACNA1D,CACNA1D EXON Missense_I805T,Missense_I805T,Missense_I825T exm324003 3 53766103 [A/G] NM_001128840,NM_001128839,NM_000720 CACNA1D,CACNA1D,CACNA1D EXON Missense_V823M,Missense_V823M,Missense_V843M exm324006 3 53766920 [T/G] NM_001128840,NM_001128839,NM_000720 CACNA1D,CACNA1D,CACNA1D EXON Missense_L851W,Missense_L851W,Missense_L871W exm2256097 3 53776678 [A/G] NM_001128840,NM_001128839,NM_000720 CACNA1D,CACNA1D,CACNA1D Silent,Silent,Silent exm324028 3 53779682 [A/G] NM_001128840,NM_001128839,NM_000720 CACNA1D,CACNA1D,CACNA1D EXON Missense_R1013Q,Missense_R1013Q,Missense_R1033Q exm324043 3 53783341 [A/G] NM_001128840,NM_001128839,NM_000720 CACNA1D,CACNA1D,CACNA1D EXON Missense_I1121V,Missense_I1121V,Missense_I1141V exm324056 3 53787624 [A/G] NM_001128840,NM_001128839,NM_000720 CACNA1D,CACNA1D,CACNA1D EXON Missense_N1234S,Missense_N1234S,Missense_N1254S exm324061 3 53796059 [T/C] NM_001128840,NM_001128839,NM_000720 CACNA1D,CACNA1D,CACNA1D EXON Missense_S1274F,Missense_S1274F,Missense_S1294F exm324064 3 53796091 [A/G] NM_001128840,NM_001128839,NM_000720 CACNA1D,CACNA1D,CACNA1D EXON Missense_A1285T,Missense_A1285T,Missense_A1305T exm324066 3 53804021 [T/C] NM_001128840,NM_001128839,NM_000720 CACNA1D,CACNA1D,CACNA1D EXON Missense_P1298S,Silent,Missense_P1318S exm324068 3 53804489 [T/C] NM_001128840,NM_001128839,NM_000720 CACNA1D,CACNA1D,CACNA1D EXON Synonymous_F1318F,Synonymous_F1303F,Synonymous_F1338F exm2256098 3 53804489 [T/C] NM_001128840,NM_001128839,NM_000720 CACNA1D,CACNA1D,CACNA1D EXON Synonymous_F1318F,Synonymous_F1303F,Synonymous_F1338F exm324070 3 53804531 [C/G] NM_001128840,NM_001128839,NM_000720 CACNA1D,CACNA1D,CACNA1D EXON Missense_R1332S,Missense_R1317S,Missense_R1352S exm324083 3 53814150 [T/C] NM_001128840,NM_001128839,NM_000720 CACNA1D,CACNA1D,CACNA1D EXON Missense_T1562I,Missense_T1547I,Missense_T1582I exm324097 3 53834369 [A/G] NM_001128840,NM_001128839,NM_000720 CACNA1D,CACNA1D,CACNA1D EXON Missense_E1673K,Missense_E1658K,Missense_E1693K exm324101 3 53835340 [C/G] NM_001128840,NM_001128839,NM_000720 CACNA1D,CACNA1D,CACNA1D EXON Missense_A1766P,Missense_A1751P,Missense_A1786P exm324105 3 53835422 [A/G] NM_001128840,NM_001128839,NM_000720 CACNA1D,CACNA1D,CACNA1D EXON Missense_R1793Q,Missense_R1778Q,Missense_R1813Q exm324109 3 53837487 [T/C] NM_001128840,NM_001128839,NM_000720 CACNA1D,CACNA1D,CACNA1D EXON Missense_R1825W,Missense_R1801W,Missense_R1845W exm324119 3 53839116 [A/G] NM_001128840,NM_001128839,NM_000720 CACNA1D,CACNA1D,CACNA1D EXON Missense_V1898I,Missense_V1874I,Missense_V1918I exm324126 3 53842763 [A/G] NM_001128840,NM_001128839,NM_000720 CACNA1D,CACNA1D,CACNA1D EXON Missense_R1946H,Missense_R1922H,Missense_R1966H exm324133 3 53844063 [T/C] NM_001128840,NM_001128839,NM_000720 CACNA1D,CACNA1D,CACNA1D EXON Missense_S1977L,Missense_S1953L,Missense_S1997L exm324134 3 53844069 [G/C] NM_001128840,NM_001128839,NM_000720 CACNA1D,CACNA1D,CACNA1D EXON Missense_R1979P,Missense_R1955P,Missense_R1999P exm324137 3 53844126 [A/C] NM_001128840,NM_001128839,NM_000720 CACNA1D,CACNA1D,CACNA1D EXON Missense_T1998N,Missense_T1974N,Missense_T2018N exm324156 3 53845236 [A/G] NM_001128840,NM_001128839,NM_000720 CACNA1D,CACNA1D,CACNA1D EXON Missense_D2097N,Missense_D2073N,Missense_D2117N exm324160 3 53845288 [T/G] NM_001128840,NM_001128839,NM_000720 CACNA1D,CACNA1D,CACNA1D EXON Missense_R2114L,Missense_R2090L,Missense_R2134L exm324164 3 53845384 [A/G] NM_001128840,NM_001128839,NM_000720 CACNA1D,CACNA1D,CACNA1D EXON Missense_R2146K,Missense_R2122K,Missense_R2166K exm324170 3 53851910 [A/G] NM_018397 CHDH EXON Missense_T560I exm2239971 3 53852082 [A/G] NM_018397 CHDH EXON Missense_R503W exm324181 3 53852133 [C/G] NM_018397 CHDH EXON Missense_L486V exm2275675 3 53852216 [T/C] NM_018397 CHDH EXON Missense_D458G exm324185 3 53853009 [T/C] NM_018397 CHDH EXON Missense_N441S exm2058559 3 53854599 [T/C] NM_018397 CHDH EXON Missense_Y341C exm324214 3 53856668 [A/G] NM_018397 CHDH EXON Synonymous_G235G exm324243 3 53857894 [A/C] NM_018397 CHDH EXON Missense_A48S exm324252 3 53857989 [T/C] NM_018397 CHDH EXON Missense_R16Q exm324261 3 53882694 [A/G] NM_018725 IL17RB EXON Missense_V22I exm324268 3 53883742 [A/G] NM_018725 IL17RB EXON Missense_R49Q exm324271 3 53883813 [T/C] NM_018725 IL17RB EXON Missense_R73W exm324273 3 53886024 [A/C] NM_018725 IL17RB Silent exm324275 3 53886035 [A/G] NM_018725 IL17RB EXON Missense_R79H exm324292 3 53889368 [A/G] NM_018725 IL17RB EXON Missense_G177R exm324299 3 53890967 [T/C] NM_018725 IL17RB EXON Missense_A209V exm324301 3 53891003 [A/C] NM_018725 IL17RB EXON Missense_Q221P exm324308 3 53891665 [A/G] NM_018725 IL17RB EXON Missense_R232Q exm324318 3 53892824 [A/G] NM_018725 IL17RB EXON Missense_V276I exm324319 3 53892830 [T/C] NM_018725 IL17RB EXON Missense_F278L exm324338 3 53899057 [A/G] NM_018725 IL17RB EXON Missense_S411G exm2058588 3 53899069 [C/G] NM_018725 IL17RB EXON Missense_P415A exm324341 3 53899178 [T/C] NM_018725 IL17RB EXON Missense_I451T exm324343 3 53899199 [A/G] NM_018725 IL17RB EXON Missense_N458S exm324348 3 53899276 [T/C] NM_018725 IL17RB EXON Nonsense_Q484X exm324354 3 53899321 [T/C] NM_018725 IL17RB EXON Missense_C499R exm324367 3 53905277 [A/G] NM_022899 ACTR8 EXON Missense_H517Y exm2058595 3 53905393 [C/G] NM_022899 ACTR8 EXON Missense_G478A exm324375 3 53905480 [A/G] NM_022899 ACTR8 EXON Missense_I449T exm324377 3 53906434 [A/C] NM_022899 ACTR8 EXON Missense_A427S exm324389 3 53908348 [A/C] NM_022899 ACTR8 EXON Missense_Y319D exm324411 3 53911383 [T/C] NM_022899 ACTR8 EXON Missense_N181S exm324420 3 53911775 [A/G] NM_022899 ACTR8 EXON Missense_R137C exm324431 3 53914093 [A/G] NM_022899 ACTR8 EXON Missense_T56I exm324442 3 53919869 [A/C] NM_021237 SELK EXON Missense_A89S exm324450 3 53922492 [T/C] NM_021237 SELK EXON Missense_R13Q exm324453 3 53925798 [A/G] NM_021237 SELK EXON Synonymous_N6N exm2261513 3 54077256 [A/C] exm324464 3 54157610 [G/C] NM_018398 CACNA2D3 EXON Missense_L65V exm2265450 3 54183550 [A/G] NM_018398 CACNA2D3 Silent exm324482 3 54596895 [C/G] NM_018398 CACNA2D3 EXON Missense_R205G exm2256101 3 54604188 [T/C] NM_018398 CACNA2D3 Silent exm324498 3 54661890 [A/G] NM_018398 CACNA2D3 EXON Missense_N347S exm324534 3 54905597 [A/G] NM_018398 CACNA2D3 EXON Missense_N553S exm324552 3 54922021 [A/G] NM_018398,NR_046666 CACNA2D3,CACNA2D3-AS1 EXON Missense_A698T,Silent exm324557 3 54925426 [T/C] NM_018398,NR_046666 CACNA2D3,CACNA2D3-AS1 EXON Missense_T732M,Silent exm324565 3 54933872 [A/G] NM_018398,NR_046666 CACNA2D3,CACNA2D3-AS1 EXON Missense_E809G,Silent exm324572 3 54952554 [G/C] NM_018398,NM_020678 CACNA2D3,LRTM1 EXON Silent,Missense_P324A exm324579 3 54952644 [T/C] NM_018398,NM_020678 CACNA2D3,LRTM1 EXON Silent,Missense_V294I exm324581 3 54952676 [T/C] NM_018398,NM_020678 CACNA2D3,LRTM1 EXON Silent,Missense_R283H exm324582 3 54952677 [A/G] NM_018398,NM_020678 CACNA2D3,LRTM1 EXON Silent,Missense_R283C exm324585 3 54952688 [A/G] NM_018398,NM_020678 CACNA2D3,LRTM1 EXON Silent,Missense_P279L exm324586 3 54952727 [A/C] NM_018398,NM_020678 CACNA2D3,LRTM1 EXON Silent,Missense_R266L exm324587 3 54952731 [C/G] NM_018398,NM_020678 CACNA2D3,LRTM1 EXON Silent,Missense_E265Q exm324588 3 54952734 [C/G] NM_018398,NM_020678 CACNA2D3,LRTM1 EXON Silent,Missense_G264R exm2239976 3 54952918 [T/C] NM_018398,NM_020678 CACNA2D3,LRTM1 EXON Silent,Synonymous_G202G exm2273944 3 54958762 [C/G] NM_018398,NM_020678 CACNA2D3,LRTM1 EXON Silent,Missense_R163P exm324605 3 54958763 [A/G] NM_018398,NM_020678 CACNA2D3,LRTM1 EXON Silent,Nonsense_R163X exm324612 3 54958901 [C/G] NM_018398,NM_020678 CACNA2D3,LRTM1 EXON Silent,Missense_L117V exm324616 3 54958975 [C/G] NM_018398,NM_020678 CACNA2D3,LRTM1 EXON Silent,Missense_G92A exm324622 3 54959123 [T/C] NM_018398,NM_020678 CACNA2D3,LRTM1 EXON Silent,Missense_E43K exm324638 3 55003851 [T/C] NM_018398 CACNA2D3 EXON Missense_S846P exm324642 3 55018689 [T/G] NM_018398 CACNA2D3 EXON Missense_Y871D exm324652 3 55043415 [T/G] NM_018398 CACNA2D3 EXON Missense_L940F exm324653 3 55043440 [A/G] NM_018398 CACNA2D3 EXON Missense_S949G exm324662 3 55108163 [A/G] NM_018398 CACNA2D3 EXON Missense_G1069D exm2265451 3 55281622 [A/G] exm-rs358806 3 55313400 [A/C] exm-rs3846041 3 55449471 [A/G] exm2269625 3 55453536 [T/G] exm2256103 3 55474073 [A/G] exm324692 3 55508479 [T/G] NM_001256105,NM_003392 WNT5A,WNT5A EXON Nonsense_Y175X,Nonsense_Y190X exm324711 3 55514843 [G/C] NM_001256105,NM_003392 WNT5A,WNT5A EXON Missense_A22G,Missense_A37G exm324716 3 55514934 [A/T] NM_001256105,NM_003392 WNT5A,WNT5A EXON Silent,Missense_I7L exm324717 3 55514939 [A/G] NM_001256105,NM_003392 WNT5A,WNT5A EXON Silent,Missense_I5T exm-rs1795648 3 55571760 [A/G] NM_015576 ERC2 Silent exm324727 3 55733488 [T/C] NM_015576 ERC2 EXON Missense_H920R exm324733 3 55922456 [A/G] NM_015576 ERC2 EXON Missense_I840T exm324736 3 55922477 [A/G] NM_015576 ERC2 EXON Missense_A833V exm324740 3 55922561 [T/G] NM_015576 ERC2 EXON Missense_N805T exm324741 3 55922576 [A/G] NM_015576 ERC2 EXON Missense_I800T exm324753 3 55984592 [A/C] NM_015576 ERC2 EXON Missense_L753R exm324761 3 56026218 [A/G] NM_015576 ERC2 EXON Missense_L708F exm324771 3 56044536 [G/C] NM_015576 ERC2 EXON Missense_E621Q exm324777 3 56114861 [T/C] NM_015576 ERC2 EXON Missense_N542S exm324804 3 56330401 [T/G] NM_015576 ERC2 EXON Missense_H240Q exm-rs2054989 3 56530709 [A/G] exm2265588 3 56533016 [A/G] exm324834 3 56597950 [T/C] NM_001012506,NM_001141947,NR_024460 CCDC66,CCDC66,CCDC66 EXON Missense_A80V,Missense_A114V,Silent exm2239978 3 56597976 [A/G] NM_001012506,NM_001141947,NR_024460 CCDC66,CCDC66,CCDC66 EXON Missense_N89D,Missense_N123D,Silent exm324844 3 56598136 [A/C] NM_001012506,NM_001141947,NR_024460 CCDC66,CCDC66,CCDC66 EXON Missense_N142T,Missense_N176T,Silent exm324849 3 56600690 [A/C] NM_001012506,NM_001141947,NR_024460 CCDC66,CCDC66,CCDC66 EXON Missense_K171Q,Missense_K205Q,Silent exm324850 3 56600691 [A/G] NM_001012506,NM_001141947,NR_024460 CCDC66,CCDC66,CCDC66 EXON Missense_K171R,Missense_K205R,Silent exm324864 3 56605266 [T/C] NM_001012506,NM_001141947,NR_024460 CCDC66,CCDC66,CCDC66 EXON Missense_P257L,Missense_P291L,Silent exm324866 3 56605311 [A/G] NM_001012506,NM_001141947,NR_024460 CCDC66,CCDC66,CCDC66 EXON Missense_Q272R,Missense_Q306R,Silent exm324871 3 56627037 [T/C] NM_001012506,NM_001141947,NR_024460 CCDC66,CCDC66,CCDC66 EXON Nonsense_Q292X,Nonsense_Q326X,Silent exm324877 3 56627543 [A/G] NM_001012506,NM_001141947,NR_024460 CCDC66,CCDC66,CCDC66 EXON Missense_M331V,Missense_M365V,Silent exm324880 3 56627598 [A/G] NM_001012506,NM_001141947,NR_024460 CCDC66,CCDC66,CCDC66 EXON Missense_Q349R,Missense_Q383R,Silent exm324889 3 56628031 [A/G] NM_001012506,NM_001141947,NR_024460 CCDC66,CCDC66,CCDC66 EXON Missense_R426Q,Missense_R460Q,Silent exm324890 3 56628033 [T/C] NM_001012506,NM_001141947,NR_024460 CCDC66,CCDC66,CCDC66 EXON Nonsense_R427X,Nonsense_R461X,Silent exm324892 3 56628055 [A/G] NM_001012506,NM_001141947,NR_024460 CCDC66,CCDC66,CCDC66 EXON Missense_Q434R,Missense_Q468R,Silent exm324910 3 56649256 [T/C] NM_001012506,NM_001141947,NR_024460 CCDC66,CCDC66,CCDC66 EXON Missense_A522V,Missense_A556V,Silent exm324920 3 56650054 [T/C] NM_001012506,NM_001141947,NR_024460 CCDC66,CCDC66,CCDC66 EXON Missense_S572P,Missense_S606P,Silent exm324933 3 56651245 [T/C] NM_001012506,NM_001141947,NR_024460 CCDC66,CCDC66,CCDC66 EXON Missense_I616T,Missense_I650T,Silent exm324934 3 56651298 [C/G] NM_001012506,NM_001141947,NR_024460 CCDC66,CCDC66,CCDC66 EXON Missense_A634P,Missense_A668P,Silent exm324937 3 56651323 [A/G] NM_001012506,NM_001141947,NR_024460 CCDC66,CCDC66,CCDC66 EXON Missense_R642Q,Missense_R676Q,Silent exm324938 3 56651356 [T/G] NM_001012506,NM_001141947,NR_024460 CCDC66,CCDC66,CCDC66 EXON Missense_I653R,Missense_I687R,Silent exm324943 3 56651574 [T/A] NM_001012506,NM_001141947,NR_024460 CCDC66,CCDC66,CCDC66 EXON Missense_I726F,Missense_I760F,Silent exm324945 3 56651599 [T/C] NM_001012506,NM_001141947,NR_024460 CCDC66,CCDC66,CCDC66 EXON Missense_T734M,Missense_T768M,Silent exm324955 3 56653337 [T/C] NM_001012506,NM_001141947,NR_024460 CCDC66,CCDC66,CCDC66 EXON Missense_T772I,Missense_T806I,Silent exm324960 3 56653424 [T/A] NM_001012506,NM_001141947,NR_024460 CCDC66,CCDC66,CCDC66 EXON Missense_E801V,Missense_E835V,Silent exm324962 3 56653427 [T/C] NM_001012506,NM_001141947,NR_024460 CCDC66,CCDC66,CCDC66 EXON Missense_L802S,Missense_L836S,Silent exm324966 3 56653479 [A/T] NM_001012506,NM_001141947,NR_024460 CCDC66,CCDC66,CCDC66 EXON Missense_N819K,Missense_N853K,Silent exm324968 3 56653492 [T/C] NM_001012506,NM_001141947,NR_024460 CCDC66,CCDC66,CCDC66 EXON Missense_L824F,Missense_L858F,Silent exm324982 3 56655621 [A/G] NM_001012506,NM_001141947,NR_024460,NM_015224,NM_001112736 CCDC66,CCDC66,CCDC66,FAM208A,FAM208A EXON Missense_E907G,Missense_E941G,Silent,Silent,Silent exm324998 3 56657447 [T/C] NM_015224,NM_001112736 FAM208A,FAM208A EXON Missense_N1107S,Silent exm325004 3 56658515 [A/G] NM_015224,NM_001112736 FAM208A,FAM208A EXON Missense_S1055L,Missense_S1492L exm325007 3 56658569 [T/C] NM_015224,NM_001112736 FAM208A,FAM208A EXON Missense_N1037S,Missense_N1474S exm325009 3 56658614 [A/G] NM_015224,NM_001112736 FAM208A,FAM208A EXON Missense_A1022V,Missense_A1459V exm325010 3 56658646 [A/T] NM_015224,NM_001112736 FAM208A,FAM208A EXON Missense_S1011R,Missense_S1448R exm325013 3 56658871 [T/C] NM_015224,NM_001112736 FAM208A,FAM208A EXON Missense_I998V,Missense_I1435V exm325031 3 56667274 [A/G] NM_015224,NM_001112736 FAM208A,FAM208A EXON Missense_M745T,Missense_M1182T exm325035 3 56667377 [T/C] NM_015224,NM_001112736 FAM208A,FAM208A EXON Missense_D711N,Missense_D1148N exm325041 3 56667532 [A/C] NM_015224,NM_001112736 FAM208A,FAM208A EXON Missense_G659V,Missense_G1096V exm325047 3 56667640 [T/C] NM_015224,NM_001112736 FAM208A,FAM208A EXON Missense_R623Q,Missense_R1060Q exm325054 3 56667682 [G/C] NM_015224,NM_001112736 FAM208A,FAM208A EXON Missense_T609R,Missense_T1046R exm325058 3 56667725 [T/C] NM_015224,NM_001112736 FAM208A,FAM208A EXON Missense_I595V,Missense_I1032V exm325063 3 56667896 [T/G] NM_015224,NM_001112736 FAM208A,FAM208A EXON Silent,Missense_Q975K exm325070 3 56674140 [T/C] NM_015224,NM_001112736 FAM208A,FAM208A EXON Missense_V484M,Missense_V880M exm325074 3 56675504 [C/G] NM_015224,NM_001112736 FAM208A,FAM208A EXON Missense_A435G,Missense_A831G exm325077 3 56675565 [T/C] NM_015224,NM_001112736 FAM208A,FAM208A EXON Missense_K415E,Missense_K811E exm325078 3 56675612 [T/C] NM_015224,NM_001112736 FAM208A,FAM208A EXON Missense_K399R,Missense_K795R exm325097 3 56680925 [A/T] NM_015224,NM_001112736 FAM208A,FAM208A EXON Missense_L218I,Missense_L614I exm325100 3 56681126 [T/C] NM_015224,NM_001112736 FAM208A,FAM208A EXON Missense_A151T,Missense_A547T exm325107 3 56683066 [T/C] NM_015224,NM_001112736 FAM208A,FAM208A EXON Missense_G67E,Missense_G463E exm325114 3 56695022 [A/G] NM_015224,NM_001112736 FAM208A,FAM208A EXON Silent,Missense_T395I exm325123 3 56702553 [T/C] NM_001112736 FAM208A EXON Missense_V257I exm325129 3 56707653 [G/C] NM_001112736 FAM208A EXON Missense_N144K exm325140 3 56716992 [T/C] NM_001112736 FAM208A EXON Missense_A15T exm325147 3 56763303 [T/C] NM_019555,NM_001128616,NM_001128615 ARHGEF3,ARHGEF3,ARHGEF3 EXON Missense_V526I,Missense_V532I,Missense_V558I exm325151 3 56763325 [G/C] NM_019555,NM_001128616,NM_001128615 ARHGEF3,ARHGEF3,ARHGEF3 EXON Missense_N518K,Missense_N524K,Missense_N550K exm2058855 3 56763357 [A/G] NM_019555,NM_001128616,NM_001128615 ARHGEF3,ARHGEF3,ARHGEF3 EXON Missense_R508C,Missense_R514C,Missense_R540C exm325153 3 56763366 [T/C] NM_019555,NM_001128616,NM_001128615 ARHGEF3,ARHGEF3,ARHGEF3 EXON Missense_D505N,Missense_D511N,Missense_D537N exm325164 3 56763573 [T/G] NM_019555,NM_001128616,NM_001128615 ARHGEF3,ARHGEF3,ARHGEF3 EXON Missense_N436H,Missense_N442H,Missense_N468H exm325165 3 56763584 [T/C] NM_019555,NM_001128616,NM_001128615 ARHGEF3,ARHGEF3,ARHGEF3 EXON Missense_N432S,Missense_N438S,Missense_N464S exm325174 3 56766353 [T/C] NM_019555,NM_001128616,NM_001128615 ARHGEF3,ARHGEF3,ARHGEF3 EXON Missense_V381M,Missense_V387M,Missense_V413M exm325176 3 56766367 [T/C] NM_019555,NM_001128616,NM_001128615 ARHGEF3,ARHGEF3,ARHGEF3 EXON Missense_R376H,Missense_R382H,Missense_R408H exm325177 3 56766368 [A/G] NM_019555,NM_001128616,NM_001128615 ARHGEF3,ARHGEF3,ARHGEF3 EXON Missense_R376C,Missense_R382C,Missense_R408C exm325182 3 56771251 [A/C] NM_019555,NM_001128616,NM_001128615 ARHGEF3,ARHGEF3,ARHGEF3 EXON Missense_L335V,Missense_L341V,Missense_L367V exm325183 3 56771256 [T/C] NM_019555,NM_001128616,NM_001128615 ARHGEF3,ARHGEF3,ARHGEF3 EXON Missense_R333Q,Missense_R339Q,Missense_R365Q exm2239985 3 56771323 [A/G] NM_019555,NM_001128616,NM_001128615 ARHGEF3,ARHGEF3,ARHGEF3 EXON Missense_R311C,Missense_R317C,Missense_R343C exm2058867 3 56789146 [A/C] NM_019555,NM_001128616,NM_001128615 ARHGEF3,ARHGEF3,ARHGEF3 EXON Missense_D80Y,Missense_D86Y,Missense_D112Y exm2261516 3 56796026 [T/C] NM_019555,NM_001128616,NM_001128615 ARHGEF3,ARHGEF3,ARHGEF3 Silent,Silent,Silent exm325207 3 56809056 [A/G] NM_019555,NM_001128616,NM_001128615 ARHGEF3,ARHGEF3,ARHGEF3 EXON Silent,Missense_T29I,Silent exm2265454 3 56861222 [A/G] NM_001128615 ARHGEF3 Silent exm-rs12485738 3 56865776 [A/G] NM_001128615 ARHGEF3 Silent exm-rs2062583 3 56966246 [T/G] NM_001128615 ARHGEF3 Silent exm2256107 3 57091575 [A/G] NM_001128615 ARHGEF3 Silent exm325223 3 57107910 [T/C] NM_001128615,NM_181727 ARHGEF3,SPATA12 EXON Silent,Missense_A63V exm325228 3 57108005 [A/G] NM_001128615,NM_181727 ARHGEF3,SPATA12 EXON Silent,Missense_A95T exm325231 3 57108101 [T/C] NM_001128615,NM_181727 ARHGEF3,SPATA12 EXON Silent,Missense_P127S exm325242 3 57108282 [A/G] NM_001128615,NM_181727 ARHGEF3,SPATA12 EXON Silent,Missense_H187R exm2058890 3 57131719 [A/G] NM_017563 IL17RD EXON Missense_S671L exm325255 3 57131722 [A/G] NM_017563 IL17RD EXON Missense_P670L exm325257 3 57131785 [A/G] NM_017563 IL17RD EXON Missense_T649M exm325263 3 57132026 [A/G] NM_017563 IL17RD EXON Missense_P569S exm325264 3 57132034 [A/G] NM_017563 IL17RD EXON Missense_P566L exm325265 3 57132035 [A/G] NM_017563 IL17RD EXON Missense_P566S exm325283 3 57132223 [T/C] NM_017563 IL17RD EXON Missense_N503S exm325299 3 57132469 [A/G] NM_017563 IL17RD EXON Missense_V421A exm325320 3 57136585 [T/C] NM_017563 IL17RD EXON Missense_V301M exm325321 3 57136608 [A/G] NM_017563 IL17RD EXON Missense_P293L exm325323 3 57137154 [A/G] NM_017563 IL17RD EXON Missense_T278I exm325330 3 57138419 [A/G] NM_017563 IL17RD EXON Missense_T255M exm325334 3 57139917 [T/C] NM_017563 IL17RD EXON Missense_E239K exm325338 3 57139997 [A/G] NM_017563 IL17RD EXON Missense_S212L exm325343 3 57140161 [A/G] NM_017563 IL17RD EXON Missense_P191L exm325345 3 57143567 [T/C] NM_017563 IL17RD EXON Missense_R183Q exm325348 3 57143645 [A/G] NM_017563 IL17RD EXON Missense_T157M exm325351 3 57144258 [T/G] NM_017563 IL17RD EXON Missense_K131T exm325367 3 57232493 [T/C] NM_003865 HESX1 EXON Missense_V129I exm325368 3 57232504 [T/C] NM_003865 HESX1 EXON Missense_N125S exm325370 3 57232780 [T/C] NM_003865 HESX1 Silent exm325376 3 57232918 [T/C] NM_003865 HESX1 EXON Missense_V74M exm325379 3 57232938 [C/G] NM_003865 HESX1 EXON Missense_S67T exm2058925 3 57271566 [A/G] NM_012096 APPL1 EXON Missense_E67G exm325409 3 57274520 [A/G] NM_012096 APPL1 EXON Missense_T105A exm325411 3 57274536 [T/C] NM_012096 APPL1 EXON Missense_A110V exm325417 3 57276914 [A/G] NM_012096 APPL1 EXON Missense_R149H exm325421 3 57280200 [A/C] NM_012096 APPL1 EXON Missense_K191Q exm325435 3 57283526 [G/C] NM_012096 APPL1 EXON Missense_D334E exm325437 3 57283558 [T/C] NM_012096 APPL1 EXON Missense_T345I exm2256108 3 57291038 [A/G] NM_012096 APPL1 EXON Synonymous_P402P exm325447 3 57291288 [T/C] NM_012096 APPL1 EXON Missense_P421L exm325458 3 57293057 [T/C] NM_012096 APPL1 EXON Missense_R478C exm325459 3 57293058 [A/G] NM_012096 APPL1 EXON Missense_R478H exm325474 3 57301815 [G/C] NM_012096 APPL1 EXON Missense_E630Q exm2239987 3 57302458 [A/G] NM_012096,NM_130387,NM_001142733 APPL1,ASB14,ASB14 EXON Missense_I642M,Silent,Silent exm325479 3 57302493 [A/G] NM_012096,NM_130387,NM_001142733 APPL1,ASB14,ASB14 EXON Missense_N654S,Silent,Silent exm325486 3 57303684 [A/G] NM_012096,NM_130387,NM_001142733 APPL1,ASB14,ASB14 EXON Missense_E700G,Silent,Silent exm325492 3 57310616 [T/C] NM_130387,NM_001142733 ASB14,ASB14 EXON Missense_D291N,Missense_D576N exm325494 3 57310649 [A/G] NM_130387,NM_001142733 ASB14,ASB14 EXON Missense_R280C,Missense_R565C exm325497 3 57310687 [T/C] NM_130387,NM_001142733 ASB14,ASB14 EXON Missense_R267H,Missense_R552H exm325501 3 57310715 [A/G] NM_130387,NM_001142733 ASB14,ASB14 EXON Missense_R258W,Missense_R543W exm325525 3 57312565 [A/G] NM_130387,NM_001142733 ASB14,ASB14 EXON Missense_P139L,Missense_P424L exm325533 3 57312937 [A/G] NM_130387,NM_001142733 ASB14,ASB14 EXON Missense_I15T,Missense_I300T exm325545 3 57322251 [T/A] NM_001142733 ASB14 EXON Missense_I81K exm325547 3 57322306 [A/C] NM_001142733 ASB14 EXON Missense_D63Y exm325567 3 57335876 [T/C] NM_178504 DNAH12 EXON Missense_G2893S exm325576 3 57344818 [A/T] NM_178504 DNAH12 EXON Missense_Y2740F exm325578 3 57344879 [A/G] NM_178504 DNAH12 EXON Missense_R2720C exm325579 3 57348532 [T/C] NM_178504 DNAH12 EXON Missense_R2683Q exm325585 3 57357084 [G/C] NM_178504 DNAH12 EXON Missense_T2577S exm325590 3 57357527 [T/C] NM_178504 DNAH12 EXON Missense_V2499I exm325591 3 57357584 [A/G] NM_178504 DNAH12 EXON Missense_P2480S exm2239993 3 57386228 [A/G] NM_178504 DNAH12 EXON Missense_R2319C exm325605 3 57389060 [T/C] NM_178504 DNAH12 EXON Missense_M2289I exm325606 3 57389124 [T/C] NM_178504 DNAH12 EXON Missense_R2268H exm325622 3 57399498 [A/G] NM_178504 DNAH12 EXON Nonsense_R1980X exm325625 3 57401178 [C/G] NM_178504 DNAH12 EXON Missense_A1924G exm325627 3 57401266 [T/C] NM_178504 DNAH12 EXON Missense_G1895S exm325629 3 57405152 [A/G] NM_178504 DNAH12 EXON Missense_P1867S exm325630 3 57405210 [T/G] NM_178504 DNAH12 EXON Missense_E1847D exm325632 3 57407327 [A/T] NM_178504 DNAH12 EXON Missense_D1808V exm325633 3 57407357 [A/G] NM_178504 DNAH12 EXON Missense_F1798S exm325636 3 57414071 [A/G] NM_178504 DNAH12 EXON Missense_T1763I exm325637 3 57414097 [T/A] NM_178504 DNAH12 EXON Missense_K1754N exm325638 3 57414116 [T/C] NM_178504 DNAH12 EXON Missense_R1748H exm325639 3 57414117 [A/G] NM_178504 DNAH12 EXON Missense_R1748C exm325646 3 57414434 [A/G] NM_178504 DNAH12 EXON Missense_Y1704H exm325651 3 57415434 [T/G] NM_178504 DNAH12 EXON Missense_D1660A exm325656 3 57419180 [G/C] NM_178504 DNAH12 EXON Missense_P1609A exm325658 3 57419439 [G/C] NM_178504 DNAH12 EXON Missense_R1568T exm325660 3 57419482 [T/A] NM_178504 DNAH12 EXON Missense_M1554L exm2256110 3 57419492 [T/C] NM_178504 DNAH12 EXON Synonymous_T1550T exm325662 3 57419497 [T/C] NM_178504 DNAH12 EXON Missense_D1549N exm325674 3 57431804 [A/G] NM_178504 DNAH12 EXON Missense_M1355T exm325676 3 57431945 [T/C] NM_178504 DNAH12 EXON Missense_N1308S exm325679 3 57432311 [T/C] NM_178504 DNAH12 EXON Missense_V1275M exm325689 3 57440510 [T/C] NM_178504 DNAH12 EXON Missense_G1127R exm325698 3 57443624 [A/C] NM_178504 DNAH12 EXON Missense_L1031V exm325701 3 57445383 [T/C] NM_178504 DNAH12 EXON Missense_R933H exm325706 3 57447313 [A/G] NM_178504 DNAH12 EXON Missense_S857L exm325710 3 57448435 [T/C] NM_178504 DNAH12 EXON Missense_I816M exm325712 3 57448553 [T/C] NM_178504 DNAH12 EXON Missense_R777H exm325715 3 57454545 [A/T] NM_178504 DNAH12 EXON Missense_E756V exm325739 3 57475351 [T/G] NM_178504 DNAH12 EXON Missense_T467P exm325740 3 57475381 [T/C] NM_178504 DNAH12 EXON Missense_I457V exm325755 3 57489826 [T/C] NM_178504,NM_198564 DNAH12,DNAH12 EXON Missense_D335N,Missense_D335N exm325757 3 57489835 [A/G] NM_178504,NM_198564 DNAH12,DNAH12 EXON Missense_F332L,Missense_F332L exm325759 3 57489856 [T/C] NM_178504,NM_198564 DNAH12,DNAH12 EXON Missense_I325V,Missense_I325V exm325760 3 57493374 [T/C] NM_178504,NM_198564 DNAH12,DNAH12 EXON Missense_N298S,Missense_N298S exm325761 3 57493410 [A/T] NM_178504,NM_198564 DNAH12,DNAH12 EXON Missense_D286V,Missense_D286V exm325769 3 57494119 [T/C] NM_178504,NM_198564 DNAH12,DNAH12 EXON Missense_T231A,Missense_T231A exm325771 3 57494138 [A/C] NM_178504,NM_198564 DNAH12,DNAH12 EXON Missense_D224E,Missense_D224E exm325773 3 57494178 [A/G] NM_178504,NM_198564 DNAH12,DNAH12 EXON Missense_M211T,Missense_M211T exm2058981 3 57494251 [T/C] NM_178504,NM_198564 DNAH12,DNAH12 EXON Missense_N187D,Missense_N187D exm325776 3 57494263 [T/G] NM_178504,NM_198564 DNAH12,DNAH12 EXON Missense_L183I,Missense_L183I exm325778 3 57494915 [T/G] NM_178504,NM_198564 DNAH12,DNAH12 EXON Missense_P165Q,Missense_P165Q exm325781 3 57496570 [T/C] NM_178504,NM_198564 DNAH12,DNAH12 EXON Missense_S139N,Missense_S139N exm325783 3 57496630 [A/G] NM_178504,NM_198564 DNAH12,DNAH12 EXON Missense_M119T,Missense_M119T exm325800 3 57528440 [A/C] NM_178504,NM_198564 DNAH12,DNAH12 EXON Missense_I53S,Missense_I53S exm325803 3 57528503 [A/G] NM_178504,NM_198564 DNAH12,DNAH12 EXON Missense_V32A,Missense_V32A exm325805 3 57528509 [A/G] NM_178504,NM_198564 DNAH12,DNAH12 EXON Missense_I30T,Missense_I30T exm325806 3 57528510 [T/C] NM_178504,NM_198564 DNAH12,DNAH12 EXON Missense_I30V,Missense_I30V exm325807 3 57528533 [A/G] NM_178504,NM_198564 DNAH12,DNAH12 EXON Missense_P22L,Missense_P22L exm325818 3 57542348 [A/G] NM_177966 PDE12 EXON Missense_N81S exm325824 3 57542456 [T/C] NM_177966 PDE12 EXON Missense_V117A exm325832 3 57542538 [A/C] NM_177966 PDE12 EXON Missense_D144E exm325874 3 57543376 [A/G] NM_177966 PDE12 EXON Missense_A424T exm2059005 3 57545409 [C/G] NM_177966 PDE12 EXON Missense_T503R exm325883 3 57545532 [A/G] NM_177966 PDE12 EXON Missense_C544Y exm325905 3 57613954 [A/G] NM_152678 DENND6A EXON Missense_T605M exm325909 3 57614059 [C/G] NM_152678 DENND6A EXON Missense_R570P exm325921 3 57619029 [T/C] NM_152678 DENND6A EXON Missense_Y439C exm325933 3 57631400 [T/C] NM_152678 DENND6A EXON Missense_R342H exm325934 3 57631401 [A/G] NM_152678 DENND6A EXON Missense_R342C exm325937 3 57631425 [T/C] NM_152678 DENND6A EXON Missense_S334G exm325940 3 57632086 [C/G] NM_152678 DENND6A EXON Missense_P300A exm2269452 3 57723143 [T/C] exm325975 3 57743569 [T/C] NM_007159 SLMAP EXON Missense_T64M exm325980 3 57832925 [A/G] NM_007159 SLMAP EXON Missense_V141I exm326010 3 57875813 [A/C] NM_007159 SLMAP EXON Missense_T415K exm326013 3 57882601 [T/C] NM_007159 SLMAP EXON Synonymous_D447D exm326016 3 57893625 [T/G] NM_007159 SLMAP EXON Missense_A472S exm326023 3 57898111 [A/G] NM_007159 SLMAP EXON Missense_Q534R exm326025 3 57898147 [T/G] NM_007159 SLMAP EXON Missense_R546L exm326034 3 57898399 [A/G] NM_007159 SLMAP EXON Missense_Q630R exm326036 3 57898906 [A/G] NM_007159 SLMAP EXON Missense_K647R exm326043 3 57898980 [T/C] NM_007159 SLMAP EXON Missense_R672W exm326052 3 57902766 [T/A] NM_007159 SLMAP EXON Missense_S724C exm326056 3 57908707 [A/G] NM_007159 SLMAP EXON Missense_Q767R exm326069 3 57994565 [A/G] NM_001164317,NM_001164319,NM_001457,NM_001164318 FLNB,FLNB,FLNB,FLNB EXON Missense_I92V,Missense_I92V,Missense_I92V,Missense_I92V exm2269627 3 58022761 [T/C] NM_001164317,NM_001164319,NM_001457,NM_001164318 FLNB,FLNB,FLNB,FLNB Silent,Silent,Silent,Silent exm2256112 3 58036651 [T/C] NM_001164317,NM_001164319,NM_001457,NM_001164318 FLNB,FLNB,FLNB,FLNB Silent,Silent,Silent,Silent exm2059094 3 58062775 [A/G] NM_001164317,NM_001164319,NM_001457,NM_001164318 FLNB,FLNB,FLNB,FLNB EXON Missense_S99G,Missense_S99G,Missense_S99G,Missense_S99G exm326089 3 58080583 [A/G] NM_001164317,NM_001164319,NM_001457,NM_001164318 FLNB,FLNB,FLNB,FLNB EXON Missense_M270V,Missense_M270V,Missense_M270V,Missense_M270V exm326101 3 58084486 [A/G] NM_001164317,NM_001164319,NM_001457,NM_001164318 FLNB,FLNB,FLNB,FLNB EXON Missense_K399R,Missense_K399R,Missense_K399R,Missense_K399R exm326109 3 58084617 [A/G] NM_001164317,NM_001164319,NM_001457,NM_001164318 FLNB,FLNB,FLNB,FLNB EXON Missense_V443I,Missense_V443I,Missense_V443I,Missense_V443I exm326114 3 58088056 [T/C] NM_001164317,NM_001164319,NM_001457,NM_001164318 FLNB,FLNB,FLNB,FLNB EXON Missense_M491T,Missense_M491T,Missense_M491T,Missense_M491T exm326117 3 58089736 [A/G] NM_001164317,NM_001164319,NM_001457,NM_001164318 FLNB,FLNB,FLNB,FLNB EXON Missense_A512T,Missense_A512T,Missense_A512T,Missense_A512T exm326118 3 58089761 [T/C] NM_001164317,NM_001164319,NM_001457,NM_001164318 FLNB,FLNB,FLNB,FLNB EXON Missense_P520L,Missense_P520L,Missense_P520L,Missense_P520L exm326123 3 58090836 [T/C] NM_001164317,NM_001164319,NM_001457,NM_001164318 FLNB,FLNB,FLNB,FLNB EXON Missense_A547V,Missense_A547V,Missense_A547V,Missense_A547V exm326127 3 58090893 [A/G] NM_001164317,NM_001164319,NM_001457,NM_001164318 FLNB,FLNB,FLNB,FLNB EXON Missense_R566Q,Missense_R566Q,Missense_R566Q,Missense_R566Q exm326132 3 58092527 [A/T] NM_001164317,NM_001164319,NM_001457,NM_001164318 FLNB,FLNB,FLNB,FLNB EXON Missense_D623V,Missense_D623V,Missense_D623V,Missense_D623V exm326135 3 58092578 [T/C] NM_001164317,NM_001164319,NM_001457,NM_001164318 FLNB,FLNB,FLNB,FLNB EXON Missense_T640M,Missense_T640M,Missense_T640M,Missense_T640M exm326138 3 58094189 [A/G] NM_001164317,NM_001164319,NM_001457,NM_001164318 FLNB,FLNB,FLNB,FLNB EXON Missense_R649Q,Missense_R649Q,Missense_R649Q,Missense_R649Q exm326144 3 58094909 [A/G] NM_001164317,NM_001164319,NM_001457,NM_001164318 FLNB,FLNB,FLNB,FLNB EXON Missense_G687R,Missense_G687R,Missense_G687R,Missense_G687R exm326160 3 58095770 [A/G] NM_001164317,NM_001164319,NM_001457,NM_001164318 FLNB,FLNB,FLNB,FLNB EXON Missense_R786Q,Missense_R786Q,Missense_R786Q,Missense_R786Q exm326165 3 58095866 [A/G] NM_001164317,NM_001164319,NM_001457,NM_001164318 FLNB,FLNB,FLNB,FLNB EXON Missense_R818Q,Missense_R818Q,Missense_R818Q,Missense_R818Q exm326169 3 58097527 [A/G] NM_001164317,NM_001164319,NM_001457,NM_001164318 FLNB,FLNB,FLNB,FLNB EXON Missense_A832T,Missense_A832T,Missense_A832T,Missense_A832T exm326179 3 58104626 [T/G] NM_001164317,NM_001164319,NM_001457,NM_001164318 FLNB,FLNB,FLNB,FLNB EXON Missense_G925C,Missense_G925C,Missense_G925C,Missense_G925C exm326193 3 58107156 [A/G] NM_001164317,NM_001164319,NM_001457,NM_001164318 FLNB,FLNB,FLNB,FLNB EXON Missense_V1018M,Missense_V1018M,Missense_V1018M,Missense_V1018M exm326204 3 58108856 [A/G] NM_001164317,NM_001164319,NM_001457,NM_001164318 FLNB,FLNB,FLNB,FLNB EXON Missense_V1055M,Missense_V1055M,Missense_V1055M,Missense_V1055M exm326205 3 58108862 [A/C] NM_001164317,NM_001164319,NM_001457,NM_001164318 FLNB,FLNB,FLNB,FLNB EXON Missense_K1057Q,Missense_K1057Q,Missense_K1057Q,Missense_K1057Q exm326206 3 58108878 [T/C] NM_001164317,NM_001164319,NM_001457,NM_001164318 FLNB,FLNB,FLNB,FLNB EXON Missense_T1062I,Missense_T1062I,Missense_T1062I,Missense_T1062I exm326228 3 58109162 [A/G] NM_001164317,NM_001164319,NM_001457,NM_001164318 FLNB,FLNB,FLNB,FLNB EXON Missense_D1157N,Missense_D1157N,Missense_D1157N,Missense_D1157N exm326232 3 58109228 [A/G] NM_001164317,NM_001164319,NM_001457,NM_001164318 FLNB,FLNB,FLNB,FLNB EXON Missense_E1179K,Missense_E1179K,Missense_E1179K,Missense_E1179K exm2059150 3 58109276 [A/G] NM_001164317,NM_001164319,NM_001457,NM_001164318 FLNB,FLNB,FLNB,FLNB EXON Missense_V1195M,Missense_V1195M,Missense_V1195M,Missense_V1195M exm326236 3 58109324 [A/G] NM_001164317,NM_001164319,NM_001457,NM_001164318 FLNB,FLNB,FLNB,FLNB EXON Missense_E1211K,Missense_E1211K,Missense_E1211K,Missense_E1211K exm326245 3 58110100 [T/C] NM_001164317,NM_001164319,NM_001457,NM_001164318 FLNB,FLNB,FLNB,FLNB EXON Missense_R1256W,Missense_R1256W,Missense_R1256W,Missense_R1256W exm326246 3 58110101 [A/G] NM_001164317,NM_001164319,NM_001457,NM_001164318 FLNB,FLNB,FLNB,FLNB EXON Missense_R1256Q,Missense_R1256Q,Missense_R1256Q,Missense_R1256Q exm326249 3 58110118 [A/G] NM_001164317,NM_001164319,NM_001457,NM_001164318 FLNB,FLNB,FLNB,FLNB EXON Missense_G1262R,Missense_G1262R,Missense_G1262R,Missense_G1262R exm326254 3 58110191 [T/C] NM_001164317,NM_001164319,NM_001457,NM_001164318 FLNB,FLNB,FLNB,FLNB EXON Missense_A1286V,Missense_A1286V,Missense_A1286V,Missense_A1286V exm326256 3 58110220 [T/C] NM_001164317,NM_001164319,NM_001457,NM_001164318 FLNB,FLNB,FLNB,FLNB EXON Missense_P1296S,Missense_P1296S,Missense_P1296S,Missense_P1296S exm326265 3 58111431 [G/C] NM_001164317,NM_001164319,NM_001457,NM_001164318 FLNB,FLNB,FLNB,FLNB EXON Missense_A1341G,Missense_A1341G,Missense_A1341G,Missense_A1341G exm326267 3 58111449 [A/G] NM_001164317,NM_001164319,NM_001457,NM_001164318 FLNB,FLNB,FLNB,FLNB EXON Missense_N1347S,Missense_N1347S,Missense_N1347S,Missense_N1347S exm326270 3 58111467 [C/G] NM_001164317,NM_001164319,NM_001457,NM_001164318 FLNB,FLNB,FLNB,FLNB EXON Missense_T1353S,Missense_T1353S,Missense_T1353S,Missense_T1353S exm326276 3 58112442 [T/C] NM_001164317,NM_001164319,NM_001457,NM_001164318 FLNB,FLNB,FLNB,FLNB EXON Missense_P1392L,Missense_P1392L,Missense_P1392L,Missense_P1392L exm326278 3 58112488 [T/C] NM_001164317,NM_001164319,NM_001457,NM_001164318 FLNB,FLNB,FLNB,FLNB EXON Synonymous_P1407P,Synonymous_P1407P,Synonymous_P1407P,Synonymous_P1407P exm326279 3 58112489 [A/G] NM_001164317,NM_001164319,NM_001457,NM_001164318 FLNB,FLNB,FLNB,FLNB EXON Missense_G1408S,Missense_G1408S,Missense_G1408S,Missense_G1408S exm326285 3 58116540 [G/C] NM_001164317,NM_001164319,NM_001457,NM_001164318 FLNB,FLNB,FLNB,FLNB EXON Missense_G1432A,Missense_G1432A,Missense_G1432A,Missense_G1432A exm326287 3 58116552 [A/G] NM_001164317,NM_001164319,NM_001457,NM_001164318 FLNB,FLNB,FLNB,FLNB EXON Missense_R1436Q,Missense_R1436Q,Missense_R1436Q,Missense_R1436Q exm326288 3 58116558 [A/G] NM_001164317,NM_001164319,NM_001457,NM_001164318 FLNB,FLNB,FLNB,FLNB EXON Missense_R1438H,Missense_R1438H,Missense_R1438H,Missense_R1438H exm326300 3 58118555 [A/G] NM_001164317,NM_001164319,NM_001457,NM_001164318 FLNB,FLNB,FLNB,FLNB EXON Missense_V1502M,Missense_V1471M,Missense_V1471M,Missense_V1471M exm326301 3 58118558 [A/G] NM_001164317,NM_001164319,NM_001457,NM_001164318 FLNB,FLNB,FLNB,FLNB EXON Missense_V1503M,Missense_V1472M,Missense_V1472M,Missense_V1472M exm326305 3 58118639 [A/G] NM_001164317,NM_001164319,NM_001457,NM_001164318 FLNB,FLNB,FLNB,FLNB EXON Missense_D1530N,Missense_D1499N,Missense_D1499N,Missense_D1499N exm2059180 3 58120498 [T/C] NM_001164317,NM_001164319,NM_001457,NM_001164318 FLNB,FLNB,FLNB,FLNB EXON Missense_T1588M,Missense_T1557M,Missense_T1557M,Missense_T1557M exm326318 3 58121758 [T/C] NM_001164317,NM_001164319,NM_001457,NM_001164318 FLNB,FLNB,FLNB,FLNB EXON Missense_T1606M,Missense_T1575M,Missense_T1575M,Missense_T1575M exm326319 3 58121764 [T/C] NM_001164317,NM_001164319,NM_001457,NM_001164318 FLNB,FLNB,FLNB,FLNB EXON Missense_A1608V,Missense_A1577V,Missense_A1577V,Missense_A1577V exm2059183 3 58121848 [A/G] NM_001164317,NM_001164319,NM_001457,NM_001164318 FLNB,FLNB,FLNB,FLNB EXON Missense_R1636H,Missense_R1605H,Missense_R1605H,Missense_R1605H exm326327 3 58124020 [A/G] NM_001164317,NM_001164319,NM_001457,NM_001164318 FLNB,FLNB,FLNB,FLNB EXON Missense_A1656T,Missense_A1625T,Missense_A1625T,Missense_A1625T exm326328 3 58124050 [A/G] NM_001164317,NM_001164319,NM_001457,NM_001164318 FLNB,FLNB,FLNB,FLNB EXON Missense_G1666S,Missense_G1635S,Missense_G1635S,Missense_G1635S exm326331 3 58124134 [A/G] NM_001164317,NM_001164319,NM_001457,NM_001164318 FLNB,FLNB,FLNB,FLNB EXON Missense_D1694N,Missense_D1663N,Missense_D1663N,Missense_D1663N exm2059189 3 58127622 [T/C] NM_001164317,NM_001164319,NM_001457,NM_001164318 FLNB,FLNB,FLNB,FLNB EXON Missense_P1747L,Silent,Missense_P1716L,Missense_P1716L exm326344 3 58129295 [A/G] NM_001164317,NM_001164319,NM_001457,NM_001164318 FLNB,FLNB,FLNB,FLNB EXON Missense_G1825R,Missense_G1770R,Missense_G1794R,Missense_G1783R exm326361 3 58133989 [A/G] NM_001164317,NM_001164319,NM_001457,NM_001164318 FLNB,FLNB,FLNB,FLNB EXON Missense_D1960N,Missense_D1905N,Missense_D1929N,Missense_D1918N exm326373 3 58134505 [A/G] NM_001164317,NM_001164319,NM_001457,NM_001164318 FLNB,FLNB,FLNB,FLNB EXON Missense_K2037R,Missense_K1982R,Missense_K2006R,Missense_K1995R exm326374 3 58134516 [T/C] NM_001164317,NM_001164319,NM_001457,NM_001164318 FLNB,FLNB,FLNB,FLNB EXON Missense_R2041C,Missense_R1986C,Missense_R2010C,Missense_R1999C exm326376 3 58134535 [A/G] NM_001164317,NM_001164319,NM_001457,NM_001164318 FLNB,FLNB,FLNB,FLNB EXON Missense_R2047Q,Missense_R1992Q,Missense_R2016Q,Missense_R2005Q exm326385 3 58135658 [A/G] NM_001164317,NM_001164319,NM_001457,NM_001164318 FLNB,FLNB,FLNB,FLNB EXON Missense_K2089R,Missense_K2034R,Missense_K2058R,Missense_K2047R exm2059213 3 58135711 [A/G] NM_001164317,NM_001164319,NM_001457,NM_001164318 FLNB,FLNB,FLNB,FLNB EXON Missense_A2107T,Missense_A2052T,Missense_A2076T,Missense_A2065T exm2059223 3 58140563 [C/G] NM_001164317,NM_001164319,NM_001457,NM_001164318 FLNB,FLNB,FLNB,FLNB EXON Missense_S2258C,Missense_S2203C,Missense_S2227C,Missense_S2216C exm326412 3 58140566 [T/C] NM_001164317,NM_001164319,NM_001457,NM_001164318 FLNB,FLNB,FLNB,FLNB EXON Missense_I2259T,Missense_I2204T,Missense_I2228T,Missense_I2217T exm326417 3 58140628 [A/G] NM_001164317,NM_001164319,NM_001457,NM_001164318 FLNB,FLNB,FLNB,FLNB EXON Missense_G2280S,Missense_G2225S,Missense_G2249S,Missense_G2238S exm326425 3 58141791 [A/C] NM_001164317,NM_001164319,NM_001457,NM_001164318 FLNB,FLNB,FLNB,FLNB EXON Missense_M2324L,Missense_M2269L,Missense_M2293L,Missense_M2282L exm326427 3 58145320 [A/G] NM_001164317,NM_001164319,NM_001457,NM_001164318 FLNB,FLNB,FLNB,FLNB EXON Missense_I2341V,Missense_I2286V,Missense_I2310V,Missense_I2299V exm326428 3 58145348 [T/C] NM_001164317,NM_001164319,NM_001457,NM_001164318 FLNB,FLNB,FLNB,FLNB EXON Missense_I2350T,Missense_I2295T,Missense_I2319T,Missense_I2308T exm326431 3 58145363 [A/C] NM_001164317,NM_001164319,NM_001457,NM_001164318 FLNB,FLNB,FLNB,FLNB EXON Missense_H2355P,Missense_H2300P,Missense_H2324P,Missense_H2313P exm326433 3 58145395 [A/G] NM_001164317,NM_001164319,NM_001457,NM_001164318 FLNB,FLNB,FLNB,FLNB EXON Missense_V2366M,Missense_V2311M,Missense_V2335M,Missense_V2324M exm326434 3 58148895 [T/C] NM_001164317,NM_001164319,NM_001457,NM_001164318 FLNB,FLNB,FLNB,FLNB EXON Missense_R2377C,Missense_R2322C,Missense_R2346C,Missense_R2335C exm326437 3 58148900 [A/C] NM_001164317,NM_001164319,NM_001457,NM_001164318 FLNB,FLNB,FLNB,FLNB EXON Missense_F2378L,Missense_F2323L,Missense_F2347L,Missense_F2336L exm326440 3 58148958 [A/G] NM_001164317,NM_001164319,NM_001457,NM_001164318 FLNB,FLNB,FLNB,FLNB EXON Missense_V2398I,Missense_V2343I,Missense_V2367I,Missense_V2356I exm326442 3 58148979 [T/C] NM_001164317,NM_001164319,NM_001457,NM_001164318 FLNB,FLNB,FLNB,FLNB EXON Missense_R2405C,Missense_R2350C,Missense_R2374C,Missense_R2363C exm326447 3 58149042 [A/G] NM_001164317,NM_001164319,NM_001457,NM_001164318 FLNB,FLNB,FLNB,FLNB EXON Missense_E2426K,Missense_E2371K,Missense_E2395K,Missense_E2384K exm326451 3 58154223 [A/G] NM_001164317,NM_001164319,NM_001457,NM_001164318 FLNB,FLNB,FLNB,FLNB EXON Missense_V2450I,Missense_V2395I,Missense_V2419I,Missense_V2408I exm326454 3 58154328 [A/G] NM_001164317,NM_001164319,NM_001457,NM_001164318 FLNB,FLNB,FLNB,FLNB EXON Missense_V2485I,Missense_V2430I,Missense_V2454I,Missense_V2443I exm326467 3 58155409 [A/G] NM_001164317,NM_001164319,NM_001457,NM_001164318 FLNB,FLNB,FLNB,FLNB EXON Missense_A2535T,Missense_A2480T,Missense_A2504T,Missense_A2493T exm326469 3 58155433 [A/G] NM_001164317,NM_001164319,NM_001457,NM_001164318 FLNB,FLNB,FLNB,FLNB EXON Missense_A2543T,Missense_A2488T,Missense_A2512T,Missense_A2501T exm326482 3 58178478 [T/C] NM_001256560,NM_004944 DNASE1L3,DNASE1L3 EXON Missense_R255K,Missense_R285K exm326487 3 58179089 [T/C] NM_001256560,NM_004944 DNASE1L3,DNASE1L3 EXON Missense_Y231C,Missense_Y261C exm326493 3 58183616 [C/G] NM_001256560,NM_004944 DNASE1L3,DNASE1L3 EXON Missense_R182S,Missense_R212S exm326495 3 58183636 [A/G] NM_001256560,NM_004944 DNASE1L3,DNASE1L3 EXON Missense_R176C,Missense_R206C exm326507 3 58186804 [T/G] NM_001256560,NM_004944 DNASE1L3,DNASE1L3 EXON Missense_T126P,Missense_T156P exm326508 3 58186833 [A/G] NM_001256560,NM_004944 DNASE1L3,DNASE1L3 EXON Missense_V116A,Missense_V146A exm326513 3 58191230 [T/G] NM_001256560,NM_004944 DNASE1L3,DNASE1L3 EXON Silent,Missense_N96K exm326517 3 58191244 [A/G] NM_001256560,NM_004944 DNASE1L3,DNASE1L3 EXON Silent,Missense_R92W exm326520 3 58191274 [G/C] NM_001256560,NM_004944 DNASE1L3,DNASE1L3 EXON Silent,Missense_G82R exm326527 3 58196522 [G/C] NM_001256560,NM_004944 DNASE1L3,DNASE1L3 EXON Missense_D38H,Missense_D38H exm326528 3 58196537 [T/C] NM_001256560,NM_004944 DNASE1L3,DNASE1L3 EXON Missense_E33K,Missense_E33K exm2059269 3 58242333 [A/G] NM_020676 ABHD6 EXON Missense_N7S exm326544 3 58242335 [T/A] NM_020676 ABHD6 EXON Missense_M8L exm326550 3 58252948 [A/G] NM_020676 ABHD6 EXON Missense_R51H exm326562 3 58260399 [A/G] NM_020676 ABHD6 EXON Missense_T180A exm326580 3 58271099 [T/G] NM_020676 ABHD6 EXON Missense_S252R exm326592 3 58279442 [A/G] NM_020676 ABHD6 EXON Missense_D322N exm-rs13075746 3 58293867 [A/G] NR_049758,NR_049756,NM_007042,NR_049757,NM_001098783,NR_049755 RPP14,RPP14,RPP14,RPP14,RPP14,RPP14 Silent,Silent,Silent,Silent,Silent,Silent exm326605 3 58302249 [T/C] NR_049758,NR_049756,NM_007042,NR_049757,NM_001098783,NR_049755 RPP14,RPP14,RPP14,RPP14,RPP14,RPP14 EXON Silent,Silent,Missense_A57V,Silent,Missense_A57V,Silent exm326607 3 58302285 [A/G] NR_049758,NR_049756,NM_007042,NR_049757,NM_001098783,NR_049755 RPP14,RPP14,RPP14,RPP14,RPP14,RPP14 EXON Silent,Silent,Missense_K69R,Silent,Missense_K69R,Silent exm326608 3 58302657 [T/G] NR_049758,NR_049756,NM_007042,NR_049757,NM_001098783,NR_049755 RPP14,RPP14,RPP14,RPP14,RPP14,RPP14 EXON Silent,Silent,Missense_L85F,Silent,Missense_L85F,Silent exm326611 3 58302710 [A/G] NR_049758,NR_049756,NM_007042,NR_049757,NM_001098783,NR_049755 RPP14,RPP14,RPP14,RPP14,RPP14,RPP14 EXON Silent,Silent,Missense_R103Q,Silent,Missense_R103Q,Silent exm326612 3 58302718 [C/G] NR_049758,NR_049756,NM_007042,NR_049757,NM_001098783,NR_049755 RPP14,RPP14,RPP14,RPP14,RPP14,RPP14 EXON Silent,Silent,Missense_Q106E,Silent,Missense_Q106E,Silent exm326622 3 58355183 [A/C] NM_017771 PXK EXON Missense_D60A exm2275219 3 58368242 [T/C] NM_017771 PXK EXON Missense_I68T exm326630 3 58368343 [A/G] NM_017771 PXK EXON Missense_V102M exm-rs6445975 3 58370177 [T/G] NM_017771 PXK Silent exm326636 3 58376875 [T/G] NM_017771 PXK EXON Synonymous_G156G exm326640 3 58376908 [G/C] NM_017771 PXK EXON Missense_K167N exm326647 3 58380747 [T/C] NM_017771 PXK EXON Missense_T213I exm-rs13315871 3 58381287 [A/G] NM_017771 PXK Silent exm326654 3 58381472 [T/C] NM_017771 PXK EXON Missense_R270W exm326666 3 58383396 [T/C] NM_017771 PXK EXON Missense_P350L exm326675 3 58394693 [T/C] NM_017771 PXK EXON Missense_C425R exm326679 3 58395281 [T/C] NM_017771 PXK EXON Missense_T444I exm326686 3 58395842 [A/T] NM_017771 PXK EXON Missense_N474I exm326687 3 58395863 [A/G] NM_017771 PXK EXON Missense_K481R exm326690 3 58395886 [A/G] NM_017771 PXK EXON Missense_A489T exm326700 3 58410554 [T/C] NM_017771 PXK EXON Missense_A535V exm326703 3 58410621 [G/C] NM_017771 PXK EXON Missense_Q557H exm326714 3 58413812 [T/C] NR_033384,NM_000925,NM_001173468 PDHB,PDHB,PDHB EXON Silent,Missense_I343M,Missense_I325M exm326717 3 58413904 [G/C] NR_033384,NM_000925,NM_001173468 PDHB,PDHB,PDHB EXON Silent,Missense_P313A,Missense_P295A exm326723 3 58414275 [T/C] NR_033384,NM_000925,NM_001173468 PDHB,PDHB,PDHB EXON Silent,Missense_N287D,Missense_N269D exm326739 3 58416547 [T/C] NR_033384,NM_000925,NM_001173468 PDHB,PDHB,PDHB EXON Silent,Missense_I142M,Silent exm326741 3 58416663 [A/C] NR_033384,NM_000925,NM_001173468 PDHB,PDHB,PDHB EXON Silent,Missense_L104V,Missense_L104V exm326759 3 58419499 [T/C] NR_033384,NM_000925,NM_001173468 PDHB,PDHB,PDHB EXON Silent,Missense_R13Q,Missense_R13Q exm326762 3 58419524 [A/G] NR_033384,NM_000925,NM_001173468 PDHB,PDHB,PDHB EXON Silent,Missense_S5P,Missense_S5P exm326763 3 58419527 [T/C] NR_033384,NM_000925,NM_001173468 PDHB,PDHB,PDHB EXON Silent,Missense_V4M,Missense_V4M exm326768 3 58486772 [A/G] NM_001128214,NM_153331 KCTD6,KCTD6 EXON Missense_G43R,Missense_G43R exm326774 3 58487264 [A/C] NM_001128214,NM_153331 KCTD6,KCTD6 EXON Missense_N207H,Missense_N207H exm326785 3 58494664 [T/C] NM_003500 ACOX2 EXON Missense_E647K exm326787 3 58502943 [A/G] NM_003500 ACOX2 EXON Missense_R614C exm326795 3 58503063 [A/G] NM_003500 ACOX2 EXON Missense_R574C exm326796 3 58503090 [G/C] NM_003500 ACOX2 EXON Missense_E565Q exm326798 3 58503131 [A/G] NM_003500 ACOX2 EXON Missense_T551I exm326801 3 58508273 [C/G] NM_003500 ACOX2 EXON Missense_Q528E exm326819 3 58512353 [T/C] NM_003500 ACOX2 EXON Missense_M396V exm2256113 3 58512375 [T/C] NM_003500 ACOX2 EXON Synonymous_A388A exm326824 3 58512384 [A/C] NM_003500 ACOX2 Silent exm326829 3 58514586 [C/G] NM_003500 ACOX2 EXON Missense_L364V exm326836 3 58516239 [T/C] NM_003500 ACOX2 EXON Missense_A316T exm326841 3 58516335 [T/C] NM_003500 ACOX2 EXON Missense_G284S exm326842 3 58516344 [T/C] NM_003500 ACOX2 EXON Missense_V281I exm326852 3 58517450 [A/G] NM_003500 ACOX2 EXON Missense_R225W exm326857 3 58517534 [A/G] NM_003500 ACOX2 EXON Missense_R197W exm326877 3 58519760 [A/G] NM_003500 ACOX2 EXON Nonsense_Q146X exm326882 3 58519841 [A/G] NM_003500 ACOX2 EXON Missense_H119Y exm326890 3 58520135 [T/C] NM_003500 ACOX2 EXON Missense_R92Q exm2275676 3 58520141 [A/G] NM_003500 ACOX2 EXON Missense_I90T exm326895 3 58520228 [A/G] NM_003500 ACOX2 EXON Missense_P61L exm326896 3 58520238 [T/G] NM_003500 ACOX2 EXON Missense_H58N exm326902 3 58520686 [A/G] NM_003500 ACOX2 EXON Missense_R50C exm326903 3 58520730 [T/C] NM_003500 ACOX2 EXON Missense_R35Q exm326904 3 58520731 [A/G] NM_003500 ACOX2 EXON Missense_R35W exm326905 3 58520737 [T/C] NM_003500 ACOX2 EXON Missense_V33M exm326915 3 58552329 [G/C] NM_007177,NM_001076778 FAM107A,FAM107A EXON Missense_E141Q,Missense_E141Q exm326927 3 58552997 [A/C] NM_007177,NM_001076778 FAM107A,FAM107A EXON Missense_A89S,Missense_A89S exm326932 3 58553039 [A/G] NM_007177,NM_001076778 FAM107A,FAM107A EXON Missense_R75W,Missense_R75W exm326937 3 58555442 [T/C] NM_007177,NM_001076778 FAM107A,FAM107A EXON Missense_R49Q,Missense_R49Q exm326938 3 58555444 [T/G] NM_007177,NM_001076778 FAM107A,FAM107A EXON Missense_H48Q,Missense_H48Q exm326940 3 58555502 [T/A] NM_007177,NM_001076778 FAM107A,FAM107A EXON Missense_I29N,Missense_I29N exm2256114 3 58555510 [T/C] NM_007177,NM_001076778 FAM107A,FAM107A EXON Synonymous_P26P,Synonymous_P26P exm-rs13315591 3 58556841 [T/C] NM_007177,NM_001076778 FAM107A,FAM107A Silent,Silent exm2263988 3 58590284 [A/C] exm326956 3 58622914 [T/C] NM_138805 FAM3D EXON Missense_G138R exm2059420 3 58622916 [A/G] NM_138805 FAM3D EXON Missense_P137L exm326958 3 58625875 [A/C] NM_138805 FAM3D EXON Missense_A118S exm326968 3 58631270 [T/C] NM_138805 FAM3D EXON Missense_V77I exm326971 3 58631321 [A/G] NM_138805 FAM3D EXON Missense_P60S exm326979 3 58639410 [A/G] NM_138805 FAM3D EXON Missense_R38C exm326981 3 58639418 [T/C] NM_138805 FAM3D EXON Missense_R35H exm326982 3 58639419 [A/G] NM_138805 FAM3D EXON Missense_R35C exm326998 3 58728270 [T/C] NM_198463 C3orf67 EXON Missense_E537K exm327000 3 58739502 [C/G] NM_198463 C3orf67 EXON Missense_V525L exm327001 3 58739528 [T/C] NM_198463 C3orf67 EXON Missense_R516H exm327015 3 58817602 [T/C] NM_198463 C3orf67 EXON Missense_R411Q exm327018 3 58849291 [T/C] NM_198463 C3orf67 EXON Missense_S404N exm327024 3 58849343 [T/C] NM_198463 C3orf67 EXON Missense_V387M exm327030 3 58849479 [G/C] NM_198463 C3orf67 EXON Missense_Q341H exm327032 3 58849590 [T/A] NM_198463 C3orf67 EXON Missense_D304E exm327035 3 58852298 [C/G] NM_198463 C3orf67 EXON Missense_Q293E exm327040 3 58852379 [T/C] NM_198463 C3orf67 EXON Missense_A266T exm327045 3 58853578 [T/C] NM_198463 C3orf67 EXON Missense_K242R exm327048 3 58853638 [A/G] NM_198463 C3orf67 EXON Missense_P222L exm327051 3 58855127 [G/C] NM_198463 C3orf67 EXON Missense_L189F exm327054 3 58855204 [T/C] NM_198463 C3orf67 EXON Missense_V164I exm327056 3 58855902 [T/G] NM_198463 C3orf67 EXON Missense_S158R exm327063 3 58870301 [T/C] NM_198463 C3orf67 EXON Missense_G104R exm327065 3 58870321 [T/C] NM_198463 C3orf67 EXON Missense_R97H exm327070 3 58870429 [T/C] NM_198463 C3orf67 EXON Missense_Y61C exm2263989 3 59290258 [A/C] exm-rs4679621 3 59324733 [T/C] exm2265456 3 59475736 [A/G] exm2264024 3 59678338 [A/C] exm-rs6803290 3 59692168 [T/C] exm327085 3 59737969 [A/G] NM_001166243,NM_002012 FHIT,FHIT EXON Missense_R143W,Missense_R143W exm327087 3 59737975 [A/C] NM_001166243,NM_002012 FHIT,FHIT EXON Missense_A141S,Missense_A141S exm327088 3 59737999 [T/C] NM_001166243,NM_002012 FHIT,FHIT EXON Missense_E133K,Missense_E133K exm-rs1825630 3 59902801 [T/C] NM_001166243,NM_002012 FHIT,FHIT Silent,Silent exm327110 3 59999794 [T/C] NM_001166243,NM_002012 FHIT,FHIT EXON Missense_Q63R,Missense_Q63R exm2256118 3 59999799 [T/C] NM_001166243,NM_002012 FHIT,FHIT EXON Synonymous_T61T,Synonymous_T61T exm2059483 3 59999800 [A/G] NM_001166243,NM_002012 FHIT,FHIT EXON Missense_T61M,Missense_T61M exm-rs182418 3 60020000 [A/G] NM_001166243,NM_002012 FHIT,FHIT Silent,Silent exm2263990 3 60134540 [A/C] NM_001166243,NM_002012 FHIT,FHIT Silent,Silent exm-rs10866033 3 60280743 [T/C] NM_001166243,NM_002012 FHIT,FHIT Silent,Silent exm-rs10510837 3 60289842 [A/G] NM_001166243,NM_002012 FHIT,FHIT Silent,Silent exm327121 3 60522599 [T/G] NM_001166243,NM_002012 FHIT,FHIT EXON Missense_P33T,Missense_P33T exm2265457 3 60546856 [A/G] NM_001166243,NM_002012 FHIT,FHIT Silent,Silent exm-rs6791644 3 60771108 [A/G] NM_001166243,NM_002012 FHIT,FHIT Silent,Silent exm2264025 3 60874077 [A/C] NM_001166243,NM_002012 FHIT,FHIT Silent,Silent exm2256122 3 60933934 [T/C] NM_001166243,NM_002012 FHIT,FHIT Silent,Silent exm2265589 3 61315350 [A/G] exm-rs10514718 3 61413814 [C/G] exm2265458 3 61446281 [A/G] exm327132 3 61548010 [A/G] NM_002841 PTPRG EXON Missense_T17A exm327135 3 61548022 [T/C] NM_002841 PTPRG EXON Missense_L21F exm2256124 3 61734640 [A/G] NM_002841 PTPRG EXON Synonymous_P58P exm-rs652889 3 61794054 [A/C] NM_002841 PTPRG Silent exm327158 3 61975382 [T/C] NM_002841 PTPRG EXON Missense_Y92H exm327166 3 61989028 [A/G] NM_002841 PTPRG EXON Missense_I126V exm-rs10490775 3 62036724 [T/C] NM_002841 PTPRG Silent exm327176 3 62063892 [T/C] NM_002841 PTPRG EXON Missense_S192F exm327179 3 62118283 [T/C] NM_002841 PTPRG EXON Missense_P208L exm327189 3 62142767 [A/G] NM_002841 PTPRG EXON Missense_V237I exm327195 3 62142878 [A/G] NM_002841 PTPRG EXON Missense_V274I exm327201 3 62153771 [T/C] NM_002841 PTPRG EXON Missense_R323C exm327202 3 62153794 [A/G] NM_002841 PTPRG EXON Missense_M330I exm327224 3 62189036 [A/G] NM_002841 PTPRG EXON Missense_G523S exm327225 3 62189076 [T/C] NM_002841 PTPRG EXON Missense_T536M exm327234 3 62189151 [A/C] NM_002841 PTPRG EXON Missense_S561Y exm327237 3 62189172 [T/C] NM_002841 PTPRG EXON Missense_S568L exm327239 3 62189189 [A/G] NM_002841 PTPRG EXON Missense_G574S exm327252 3 62189385 [A/G] NM_002841 PTPRG EXON Missense_Q639R exm327255 3 62189432 [G/C] NM_002841 PTPRG EXON Missense_Q655E exm327263 3 62189570 [A/G] NM_002841 PTPRG EXON Missense_M701V exm327264 3 62189577 [A/G] NM_002841 PTPRG EXON Missense_R703H exm327268 3 62204525 [T/C] NM_002841 PTPRG EXON Missense_A719V exm327273 3 62204621 [T/G] NM_002841 PTPRG EXON Missense_C751F exm327276 3 62216936 [T/C] NM_002841 PTPRG EXON Missense_R776C exm327289 3 62240843 [A/G] NM_002841 PTPRG EXON Missense_G838S exm327291 3 62248503 [T/A] NM_002841,NR_038281,NR_038283,NR_038282 PTPRG,PTPRG-AS1,PTPRG-AS1,PTPRG-AS1 EXON Missense_I864F,Silent,Silent,Silent exm327308 3 62254771 [T/C] NM_002841,NR_038281,NR_038283,NR_038282 PTPRG,PTPRG-AS1,PTPRG-AS1,PTPRG-AS1 EXON Missense_T979M,Silent,Silent,Silent exm327316 3 62257121 [C/G] NM_002841,NR_038281,NR_038283,NR_038282 PTPRG,PTPRG-AS1,PTPRG-AS1,PTPRG-AS1 EXON Missense_Q1025E,Silent,Silent,Silent exm327322 3 62258700 [A/G] NM_002841,NR_038281,NR_038283,NR_038282 PTPRG,PTPRG-AS1,PTPRG-AS1,PTPRG-AS1 EXON Missense_V1088I,Silent,Silent,Silent exm327330 3 62259455 [A/G] NM_002841,NR_038281,NR_038283,NR_038282 PTPRG,PTPRG-AS1,PTPRG-AS1,PTPRG-AS1 EXON Missense_S1134N,Silent,Silent,Silent exm327338 3 62262653 [A/G] NM_002841,NR_038281,NR_038283,NR_038282 PTPRG,PTPRG-AS1,PTPRG-AS1,PTPRG-AS1 EXON Missense_R1189H,Silent,Silent,Silent exm327341 3 62263311 [A/G] NM_002841,NR_038281,NR_038283,NR_038282 PTPRG,PTPRG-AS1,PTPRG-AS1,PTPRG-AS1 EXON Missense_H1241R,Silent,Silent,Silent exm327344 3 62267293 [T/C] NM_002841,NR_038281,NR_038283,NR_038282 PTPRG,PTPRG-AS1,PTPRG-AS1,PTPRG-AS1 EXON Missense_A1274V,Silent,Silent,Silent exm327348 3 62268487 [T/C] NM_002841,NR_038281,NR_038283,NR_038282 PTPRG,PTPRG-AS1,PTPRG-AS1,PTPRG-AS1 EXON Missense_I1333T,Silent,Silent,Silent exm327349 3 62268528 [A/G] NM_002841,NR_038281,NR_038283,NR_038282 PTPRG,PTPRG-AS1,PTPRG-AS1,PTPRG-AS1 EXON Missense_T1347A,Silent,Silent,Silent exm327354 3 62278936 [T/C] NM_002841,NR_038281,NR_038283,NR_038282 PTPRG,PTPRG-AS1,PTPRG-AS1,PTPRG-AS1 EXON Missense_I1431T,Silent,Silent,Silent exm327361 3 62307648 [A/T] NM_020685 C3orf14 EXON Missense_L33M exm327367 3 62317005 [A/G] NM_020685 C3orf14 EXON Missense_I61M exm2059619 3 62317022 [A/C] NM_020685 C3orf14 EXON Nonsense_S67X exm327373 3 62319048 [A/G] NM_020685 C3orf14 EXON Missense_N124S exm327392 3 62357981 [T/C] NM_018008 FEZF2 EXON Missense_G188D exm327395 3 62358166 [A/C] NM_018008 FEZF2 EXON Missense_L126F exm327402 3 62358264 [A/G] NM_018008 FEZF2 EXON Missense_L94F exm327418 3 62385193 [A/G] NM_183393,NM_003716,NM_183394 CADPS,CADPS,CADPS EXON Missense_T1238M,Missense_T1317M,Missense_T1278M exm327428 3 62431456 [T/C] NM_183393,NM_003716,NM_183394 CADPS,CADPS,CADPS EXON Missense_K1139R,Missense_K1218R,Missense_K1179R exm327430 3 62451042 [A/G] NM_183393,NM_003716,NM_183394 CADPS,CADPS,CADPS EXON Synonymous_T1133T,Synonymous_T1212T,Synonymous_T1173T exm327468 3 62484892 [T/C] NM_183393,NM_003716,NM_183394 CADPS,CADPS,CADPS EXON Missense_R861H,Missense_R884H,Missense_R901H exm327470 3 62484925 [A/G] NM_183393,NM_003716,NM_183394 CADPS,CADPS,CADPS EXON Missense_I850T,Missense_I873T,Missense_I890T exm327475 3 62501769 [T/C] NM_183393,NM_003716,NM_183394 CADPS,CADPS,CADPS EXON Missense_N832S,Missense_N849S,Missense_N849S exm327480 3 62503834 [T/C] NM_183393,NM_003716,NM_183394 CADPS,CADPS,CADPS EXON Missense_T778A,Missense_T795A,Missense_T795A exm2059678 3 62518613 [T/C] NM_183393,NM_003716,NM_183394 CADPS,CADPS,CADPS EXON Missense_A725T,Missense_A742T,Missense_A742T exm2261524 3 62552794 [T/C] NM_183393,NM_003716,NM_183394 CADPS,CADPS,CADPS Silent,Silent,Silent exm327515 3 62570924 [T/C] NM_183393,NM_003716,NM_183394 CADPS,CADPS,CADPS EXON Missense_D505N,Missense_D505N,Missense_D505N exm327516 3 62570980 [A/G] NM_183393,NM_003716,NM_183394 CADPS,CADPS,CADPS EXON Missense_P486L,Missense_P486L,Missense_P486L exm327521 3 62578344 [T/C] NM_183393,NM_003716,NM_183394 CADPS,CADPS,CADPS EXON Missense_V469I,Missense_V469I,Missense_V469I exm327527 3 62631482 [A/C] NM_183393,NM_003716,NM_183394 CADPS,CADPS,CADPS EXON Missense_A414S,Missense_A414S,Missense_A414S exm327531 3 62636542 [T/C] NM_183393,NM_003716,NM_183394 CADPS,CADPS,CADPS EXON Missense_V395M,Missense_V395M,Missense_V395M exm327572 3 62860387 [G/C] NM_183393,NM_003716,NM_183394 CADPS,CADPS,CADPS EXON Missense_E106D,Missense_E106D,Missense_E106D exm327592 3 63264392 [T/C] NM_001130003 SYNPR EXON Missense_L20F exm2261525 3 63404743 [T/C] NM_001130003 SYNPR Silent exm327595 3 63466538 [A/G] NM_001130003,NR_046677,NM_144642 SYNPR,SYNPR-AS1,SYNPR EXON Missense_G39S,Silent,Missense_G19S exm2256129 3 63560623 [T/C] NM_001130003,NM_144642 SYNPR,SYNPR Silent,Silent exm2256130 3 63600905 [T/C] NM_001130003,NM_144642 SYNPR,SYNPR EXON Synonymous_F202F,Synonymous_F182F exm2240025 3 63601009 [A/G] NM_001130003,NM_144642 SYNPR,SYNPR EXON Missense_K237R,Missense_K217R exm327630 3 63601065 [A/C] NM_001130003,NM_144642 SYNPR,SYNPR EXON Missense_S256R,Missense_S236R exm327631 3 63601084 [T/C] NM_001130003,NM_144642 SYNPR,SYNPR EXON Missense_A262V,Missense_A242V exm327643 3 63645410 [A/G] NM_001080537 SNTN EXON Missense_K52R exm2273945 3 63645496 [A/G] NM_001080537 SNTN EXON Missense_I81V exm327652 3 63649748 [T/C] NM_001080537 SNTN EXON Missense_R141W exm327655 3 63819848 [T/G] NR_026866,NM_025075 C3orf49,THOC7 EXON Silent,Missense_E192A exm327661 3 63821005 [C/G] NR_026866,NM_025075 C3orf49,THOC7 EXON Silent,Missense_D158H exm327662 3 63821022 [A/C] NR_026866,NM_025075 C3orf49,THOC7 EXON Silent,Missense_I152S exm327668 3 63823653 [T/C] NR_026866,NM_025075 C3orf49,THOC7 EXON Silent,Synonymous_Q117Q exm327681 3 63898497 [A/G] NM_000333,NM_001177387 ATXN7,ATXN7 EXON Missense_M75V,Missense_M75V exm327697 3 63965786 [A/G] NM_000333,NM_001177387,NM_001128149 ATXN7,ATXN7,ATXN7 EXON Missense_R232K,Missense_R232K,Missense_R87K exm327699 3 63965830 [T/C] NM_000333,NM_001177387,NM_001128149 ATXN7,ATXN7,ATXN7 EXON Missense_P247S,Missense_P247S,Missense_P102S exm327704 3 63967893 [C/G] NM_000333,NM_001177387,NM_001128149 ATXN7,ATXN7,ATXN7 EXON Missense_H262D,Missense_H262D,Missense_H117D exm327706 3 63967900 [A/G] NM_000333,NM_001177387,NM_001128149 ATXN7,ATXN7,ATXN7 EXON Missense_K264R,Missense_K264R,Missense_K119R exm327712 3 63968083 [A/G] NM_000333,NM_001177387,NM_001128149 ATXN7,ATXN7,ATXN7 EXON Missense_N325S,Missense_N325S,Missense_N180S exm327713 3 63968089 [A/G] NM_000333,NM_001177387,NM_001128149 ATXN7,ATXN7,ATXN7 EXON Missense_N327S,Missense_N327S,Missense_N182S exm327723 3 63973888 [A/G] NM_000333,NM_001177387,NM_001128149 ATXN7,ATXN7,ATXN7 EXON Missense_A417T,Missense_A417T,Missense_A272T exm327739 3 63976451 [A/G] NM_000333,NM_001177387,NM_001128149 ATXN7,ATXN7,ATXN7 EXON Missense_Y533C,Missense_Y533C,Missense_Y388C exm327740 3 63976466 [C/G] NM_000333,NM_001177387,NM_001128149 ATXN7,ATXN7,ATXN7 EXON Missense_S538C,Missense_S538C,Missense_S393C exm327742 3 63976489 [A/G] NM_000333,NM_001177387,NM_001128149 ATXN7,ATXN7,ATXN7 EXON Missense_A546T,Missense_A546T,Missense_A401T exm327749 3 63981215 [A/G] NM_000333,NM_001177387,NM_001128149 ATXN7,ATXN7,ATXN7 EXON Missense_I573V,Missense_I573V,Missense_I428V exm327750 3 63981225 [A/G] NM_000333,NM_001177387,NM_001128149 ATXN7,ATXN7,ATXN7 EXON Missense_R576H,Missense_R576H,Missense_R431H exm327754 3 63981335 [G/C] NM_000333,NM_001177387,NM_001128149 ATXN7,ATXN7,ATXN7 EXON Missense_P613A,Missense_P613A,Missense_P468A exm327757 3 63981399 [T/C] NM_000333,NM_001177387,NM_001128149 ATXN7,ATXN7,ATXN7 EXON Missense_A634V,Missense_A634V,Missense_A489V exm327760 3 63981419 [A/G] NM_000333,NM_001177387,NM_001128149 ATXN7,ATXN7,ATXN7 EXON Missense_M641V,Missense_M641V,Missense_M496V exm327762 3 63981444 [T/C] NM_000333,NM_001177387,NM_001128149 ATXN7,ATXN7,ATXN7 EXON Missense_S649L,Missense_S649L,Missense_S504L exm327763 3 63981473 [G/C] NM_000333,NM_001177387,NM_001128149 ATXN7,ATXN7,ATXN7 EXON Missense_L659V,Missense_L659V,Missense_L514V exm327785 3 63981933 [A/C] NM_000333,NM_001177387,NM_001128149 ATXN7,ATXN7,ATXN7 EXON Missense_N812T,Missense_N812T,Missense_N667T exm327786 3 63981949 [A/C] NM_000333,NM_001177387,NM_001128149 ATXN7,ATXN7,ATXN7 EXON Missense_N817K,Missense_N817K,Missense_N672K exm327789 3 63981977 [A/G] NM_000333,NM_001177387,NM_001128149 ATXN7,ATXN7,ATXN7 EXON Missense_T827A,Missense_T827A,Missense_T682A exm327793 3 63982082 [A/G] NM_000333,NM_001177387,NM_001128149 ATXN7,ATXN7,ATXN7 EXON Missense_V862M,Missense_V862M,Missense_V717M exm327800 3 63985157 [A/C] NM_000333,NM_001177387,NM_001128149 ATXN7,ATXN7,ATXN7 EXON Silent,Missense_S920R,Silent exm327808 3 63996606 [T/C] NR_038286,NM_001271780,NM_001271781,NM_001271779,NM_014814 PSMD6-AS2,PSMD6,PSMD6,PSMD6,PSMD6 EXON Silent,Missense_G303R,Missense_G302R,Missense_G394R,Missense_G341R exm2240030 3 63999283 [A/G] NM_001271780,NM_001271781,NM_001271779,NM_014814 PSMD6,PSMD6,PSMD6,PSMD6 EXON Missense_A238V,Missense_A237V,Missense_A329V,Missense_A276V exm327825 3 64004301 [T/C] NM_001271780,NM_001271781,NM_001271779,NM_014814 PSMD6,PSMD6,PSMD6,PSMD6 EXON Missense_R229H,Missense_R228H,Missense_R320H,Missense_R267H exm327828 3 64004515 [T/G] NM_001271780,NM_001271781,NM_001271779,NM_014814 PSMD6,PSMD6,PSMD6,PSMD6 EXON Missense_E194D,Missense_E193D,Missense_E285D,Missense_E232D exm327832 3 64004552 [A/G] NM_001271780,NM_001271781,NM_001271779,NM_014814 PSMD6,PSMD6,PSMD6,PSMD6 EXON Missense_V182A,Missense_V181A,Missense_V273A,Missense_V220A exm327849 3 64008187 [T/A] NM_001271780,NM_001271781,NM_001271779,NM_014814 PSMD6,PSMD6,PSMD6,PSMD6 EXON Missense_Y15F,Missense_Y14F,Missense_Y106F,Missense_Y53F exm327873 3 64085071 [T/C] NR_045697,NM_198859 PRICKLE2-AS1,PRICKLE2 EXON Silent,Missense_S731G exm2256131 3 64085159 [A/C] NR_045697,NM_198859 PRICKLE2-AS1,PRICKLE2 EXON Silent,Synonymous_L701L exm327909 3 64132958 [T/A] NM_198859 PRICKLE2 EXON Missense_Y403F exm2275678 3 64133159 [A/C] NM_198859 PRICKLE2 EXON Missense_R336L exm327917 3 64133216 [T/C] NM_198859 PRICKLE2 EXON Missense_N317S exm327918 3 64133243 [T/C] NM_198859 PRICKLE2 EXON Missense_R308Q exm2240031 3 64142907 [T/G] NM_198859 PRICKLE2 EXON Missense_Q177H exm327932 3 64142981 [T/C] NM_198859 PRICKLE2 EXON Missense_V153I exm327933 3 64142993 [A/C] NM_198859 PRICKLE2 EXON Missense_A149S exm2265460 3 64171993 [A/G] NM_198859 PRICKLE2 Silent exm2261526 3 64332101 [T/C] exm327952 3 64507857 [T/C] NM_182920 ADAMTS9 EXON Missense_R1933Q exm327957 3 64507921 [T/C] NM_182920 ADAMTS9 EXON Missense_V1912I exm327958 3 64507926 [T/C] NM_182920 ADAMTS9 EXON Missense_R1910Q exm327973 3 64524959 [G/C] NM_182920 ADAMTS9 EXON Missense_Q1845E exm327977 3 64526815 [T/C] NM_182920 ADAMTS9 EXON Missense_S1826N exm327985 3 64526863 [T/C] NM_182920 ADAMTS9 EXON Missense_R1810H exm2273946 3 64527012 [C/G] NM_182920 ADAMTS9 EXON Missense_E1791Q exm327994 3 64527080 [A/G] NM_182920 ADAMTS9 EXON Missense_A1768V exm327999 3 64527275 [T/C] NM_182920 ADAMTS9 EXON Missense_K1740R exm328005 3 64527520 [A/G] NM_182920 ADAMTS9 EXON Missense_Y1731H exm328007 3 64527535 [T/G] NM_182920 ADAMTS9 EXON Missense_T1726P exm328017 3 64527603 [T/C] NM_182920 ADAMTS9 EXON Missense_Q1703R exm328022 3 64532476 [G/C] NM_182920 ADAMTS9 EXON Missense_D1674E exm328023 3 64532501 [A/C] NM_182920 ADAMTS9 EXON Missense_S1666I exm328024 3 64532504 [A/G] NM_182920 ADAMTS9 EXON Missense_P1665L exm328036 3 64536638 [T/C] NM_182920 ADAMTS9 EXON Missense_R1600Q exm328038 3 64536648 [T/C] NM_182920 ADAMTS9 EXON Missense_V1597M exm328044 3 64536702 [T/C] NM_182920 ADAMTS9 EXON Missense_K1579E exm328068 3 64580068 [T/C] NM_182920 ADAMTS9 EXON Missense_V1408I exm328074 3 64582592 [T/C] NM_182920 ADAMTS9 EXON Missense_D1365N exm2256134 3 64587656 [A/G] NM_182920 ADAMTS9 EXON Synonymous_L1327L exm328085 3 64587688 [A/G] NM_182920 ADAMTS9 EXON Missense_R1317W exm2059906 3 64601759 [G/C] NM_182920 ADAMTS9 EXON Missense_R967S exm328128 3 64601793 [T/C] NM_182920 ADAMTS9 EXON Missense_R956H exm328138 3 64607943 [T/C] NM_182920 ADAMTS9 EXON Missense_E873K exm328149 3 64617162 [G/C] NM_182920 ADAMTS9 EXON Missense_F786L exm328162 3 64619218 [T/C] NM_182920 ADAMTS9 EXON Missense_R702Q exm328165 3 64619282 [G/C] NM_182920 ADAMTS9 EXON Missense_L681V exm328169 3 64619524 [A/G] NM_182920 ADAMTS9 EXON Missense_R630C exm328170 3 64619550 [T/C] NM_182920 ADAMTS9 EXON Missense_K621R exm328173 3 64627546 [T/C] NM_182920 ADAMTS9 EXON Missense_I612V exm328177 3 64627587 [A/C] NM_182920 ADAMTS9 EXON Missense_G598V exm328189 3 64635391 [T/G] NM_182920 ADAMTS9 EXON Missense_Q509H exm328193 3 64635449 [T/C] NM_182920 ADAMTS9 EXON Missense_G490D exm328229 3 64644414 [T/C] NM_182920 ADAMTS9 EXON Missense_G245R exm328235 3 64666930 [T/C] NM_182920 ADAMTS9 EXON Missense_R209H exm328236 3 64666931 [A/G] NM_182920 ADAMTS9 EXON Missense_R209C exm328239 3 64666977 [T/A] NM_182920 ADAMTS9 EXON Missense_E193D exm328242 3 64667026 [T/C] NM_182920 ADAMTS9 EXON Missense_R177Q exm328249 3 64672380 [A/G] NM_182920,NR_038264 ADAMTS9,ADAMTS9-AS2 EXON Missense_T127I,Silent exm328250 3 64672474 [T/A] NM_182920,NR_038264 ADAMTS9,ADAMTS9-AS2 EXON Missense_S96T,Silent exm328251 3 64672501 [A/C] NM_182920,NR_038264 ADAMTS9,ADAMTS9-AS2 EXON Missense_A87S,Silent exm328254 3 64672534 [T/C] NM_182920,NR_038264 ADAMTS9,ADAMTS9-AS2 EXON Missense_I76V,Silent exm328256 3 64672566 [G/C] NM_182920,NR_038264 ADAMTS9,ADAMTS9-AS2 EXON Missense_T65R,Silent exm328261 3 64672631 [A/C] NM_182920,NR_038264 ADAMTS9,ADAMTS9-AS2 EXON Missense_E43D,Silent exm-rs9860730 3 64701146 [A/G] NR_038264 ADAMTS9-AS2 Silent exm-rs6795735 3 64705365 [T/C] NR_038264 ADAMTS9-AS2 Silent exm-rs4607103 3 64711904 [T/C] NR_038264,NR_030317 ADAMTS9-AS2,MIR548A2 Silent,Silent exm2269457 3 64792082 [T/C] NR_038264,NR_030317 ADAMTS9-AS2,MIR548A2 Silent,Silent exm2265590 3 65034421 [A/G] exm-rs1482611 3 65121760 [T/C] exm2256136 3 65127595 [A/C] exm328274 3 65342135 [T/C] NM_015520,NM_001033057 MAGI1,MAGI1 EXON Silent,Missense_Q1436R exm328285 3 65342433 [A/C] NM_015520,NM_001033057 MAGI1,MAGI1 EXON Silent,Missense_L1337V exm328303 3 65342781 [T/C] NM_015520,NM_001033057 MAGI1,MAGI1 EXON Synonymous_P1278P,Missense_A1221T exm328304 3 65342788 [T/G] NM_015520,NM_001033057 MAGI1,MAGI1 EXON Missense_T1276K,Missense_H1218Q exm328306 3 65342804 [T/G] NM_015520,NM_001033057 MAGI1,MAGI1 EXON Missense_P1271T,Missense_P1213H exm328309 3 65344826 [T/C] NM_015520,NM_001033057 MAGI1,MAGI1 EXON Synonymous_A1240A,Silent exm328315 3 65346924 [T/C] NM_015520,NM_001033057,NM_004742 MAGI1,MAGI1,MAGI1 EXON Missense_R1223H,Missense_R1195H,Missense_R1224H exm328343 3 65365010 [T/C] NM_015520,NM_001033057,NM_004742 MAGI1,MAGI1,MAGI1 EXON Missense_R1002Q,Missense_R974Q,Missense_R1002Q exm2059994 3 65365139 [G/C] NM_015520,NM_001033057,NM_004742 MAGI1,MAGI1,MAGI1 EXON Missense_P959R,Missense_P931R,Missense_P959R exm328351 3 65365169 [A/G] NM_015520,NM_001033057,NM_004742 MAGI1,MAGI1,MAGI1 EXON Missense_P949L,Missense_P921L,Missense_P949L exm328355 3 65367554 [A/G] NM_015520,NM_001033057,NM_004742 MAGI1,MAGI1,MAGI1 EXON Missense_A928V,Missense_A900V,Missense_A928V exm2060001 3 65367689 [G/C] NM_015520,NM_001033057,NM_004742 MAGI1,MAGI1,MAGI1 EXON Missense_R883T,Missense_R855T,Missense_R883T exm2240041 3 65369218 [A/G] NM_015520,NM_001033057,NM_004742 MAGI1,MAGI1,MAGI1 EXON Missense_P861S,Missense_P833S,Missense_P861S exm2273947 3 65376819 [T/C] NM_015520,NM_001033057,NM_004742 MAGI1,MAGI1,MAGI1 EXON Missense_R805Q,Missense_R805Q,Missense_R805Q exm328372 3 65376936 [A/C] NM_015520,NM_001033057,NM_004742 MAGI1,MAGI1,MAGI1 EXON Missense_V766G,Missense_V766G,Missense_V766G exm328373 3 65376943 [T/G] NM_015520,NM_001033057,NM_004742 MAGI1,MAGI1,MAGI1 EXON Missense_T764P,Missense_T764P,Missense_T764P exm328387 3 65415409 [T/C] NM_015520,NM_001033057,NM_004742 MAGI1,MAGI1,MAGI1 EXON Missense_M651I,Missense_M651I,Missense_M651I exm328389 3 65415491 [T/C] NM_015520,NM_001033057,NM_004742 MAGI1,MAGI1,MAGI1 EXON Missense_Y624C,Missense_Y624C,Missense_Y624C exm328391 3 65415516 [T/C] NM_015520,NM_001033057,NM_004742 MAGI1,MAGI1,MAGI1 EXON Missense_V616M,Missense_V616M,Missense_V616M exm328394 3 65415540 [T/C] NM_015520,NM_001033057,NM_004742 MAGI1,MAGI1,MAGI1 EXON Missense_A608T,Missense_A608T,Missense_A608T exm328400 3 65415665 [T/C] NM_015520,NM_001033057,NM_004742 MAGI1,MAGI1,MAGI1 EXON Missense_N566S,Missense_N566S,Missense_N566S exm2256137 3 65416411 [T/C] NM_015520,NM_001033057,NM_004742 MAGI1,MAGI1,MAGI1 EXON Synonymous_L503L,Synonymous_L503L,Synonymous_L503L exm328405 3 65416411 [T/C] NM_015520,NM_001033057,NM_004742 MAGI1,MAGI1,MAGI1 EXON Synonymous_L503L,Synonymous_L503L,Synonymous_L503L exm328427 3 65428480 [T/C] NM_015520,NM_001033057,NM_004742 MAGI1,MAGI1,MAGI1 EXON Missense_I375V,Missense_I375V,Missense_I375V exm328445 3 65456075 [G/C] NM_015520,NM_001033057,NM_004742 MAGI1,MAGI1,MAGI1 EXON Missense_T281R,Missense_T281R,Missense_T281R exm328446 3 65456135 [T/C] NM_015520,NM_001033057,NM_004742 MAGI1,MAGI1,MAGI1 EXON Missense_H261R,Missense_H261R,Missense_H261R exm328447 3 65456154 [T/A] NM_015520,NM_001033057,NM_004742 MAGI1,MAGI1,MAGI1 EXON Missense_S255T,Missense_S255T,Missense_S255T exm328451 3 65464311 [T/C] NM_015520,NM_001033057,NM_004742 MAGI1,MAGI1,MAGI1 EXON Missense_N238S,Missense_N238S,Missense_N238S exm328454 3 65464335 [T/C] NM_015520,NM_001033057,NM_004742 MAGI1,MAGI1,MAGI1 EXON Missense_N230S,Missense_N230S,Missense_N230S exm328455 3 65464336 [T/C] NM_015520,NM_001033057,NM_004742 MAGI1,MAGI1,MAGI1 EXON Missense_N230D,Missense_N230D,Missense_N230D exm328462 3 65464467 [T/G] NM_015520,NM_001033057,NM_004742 MAGI1,MAGI1,MAGI1 EXON Missense_Y186S,Missense_Y186S,Missense_Y186S exm328465 3 65479192 [A/T] NM_015520,NM_001033057,NM_004742 MAGI1,MAGI1,MAGI1 EXON Missense_Y182F,Missense_Y182F,Missense_Y182F exm2269458 3 65766233 [T/G] NM_015520,NM_001033057,NM_004742 MAGI1,MAGI1,MAGI1 Silent,Silent,Silent exm328485 3 66023754 [T/C] NM_015520,NM_001033057,NM_004742 MAGI1,MAGI1,MAGI1 EXON Missense_R77Q,Missense_R77Q,Missense_R77Q exm2275679 3 66023892 [A/G] NM_015520,NM_001033057,NM_004742 MAGI1,MAGI1,MAGI1 EXON Missense_T31M,Missense_T31M,Missense_T31M exm328490 3 66023926 [T/C] NM_015520,NM_001033057,NM_004742 MAGI1,MAGI1,MAGI1 EXON Missense_V20M,Missense_V20M,Missense_V20M exm328491 3 66023956 [T/G] NM_015520,NM_001033057,NM_004742 MAGI1,MAGI1,MAGI1 EXON Missense_H10N,Missense_H10N,Missense_H10N exm2269459 3 66071065 [T/C] exm328498 3 66287056 [A/G] NM_173471,NR_028475,NM_001164796 SLC25A26,SLC25A26,SLC25A26 EXON Missense_S41N,Silent,Silent exm328514 3 66312541 [A/G] NM_173471,NR_028475,NM_001164796 SLC25A26,SLC25A26,SLC25A26 EXON Missense_R123G,Silent,Missense_R35G exm328520 3 66313781 [A/G] NM_173471,NR_028475,NM_001164796 SLC25A26,SLC25A26,SLC25A26 EXON Missense_Y144C,Silent,Missense_Y56C exm328536 3 66419956 [T/C] NM_173471,NR_028475,NM_001164796 SLC25A26,SLC25A26,SLC25A26 EXON Missense_T208M,Silent,Missense_T120M exm328555 3 66430695 [T/C] NM_015541 LRIG1 EXON Missense_K1092E exm328568 3 66430877 [G/C] NM_015541 LRIG1 EXON Missense_P1031R exm2240045 3 66431019 [G/C] NM_015541 LRIG1 EXON Missense_A1013P exm328577 3 66431055 [T/C] NM_015541 LRIG1 EXON Missense_D1001N exm328579 3 66431059 [G/C] NM_015541 LRIG1 EXON Missense_N999K exm328580 3 66431078 [G/C] NM_015541 LRIG1 EXON Missense_G993A exm328588 3 66431144 [T/A] NM_015541 LRIG1 EXON Missense_D971V exm328592 3 66431162 [A/G] NM_015541 LRIG1 EXON Missense_P965L exm328597 3 66431187 [T/C] NM_015541 LRIG1 EXON Missense_A957T exm2060080 3 66431237 [C/G] NM_015541 LRIG1 EXON Missense_C940S exm328603 3 66431279 [A/C] NM_015541 LRIG1 EXON Missense_G926V exm328604 3 66431280 [T/C] NM_015541 LRIG1 EXON Missense_G926S exm-rs2242285 3 66431602 [A/G] NM_015541 LRIG1 Silent exm328607 3 66431944 [A/G] NM_015541 LRIG1 EXON Missense_A910V exm328609 3 66431953 [A/G] NM_015541 LRIG1 EXON Missense_P907L exm328611 3 66431968 [A/G] NM_015541 LRIG1 EXON Missense_A902V exm328622 3 66432717 [T/C] NM_015541 LRIG1 EXON Missense_N866S exm328628 3 66432759 [T/C] NM_015541 LRIG1 EXON Missense_R852Q exm328635 3 66432814 [T/C] NM_015541 LRIG1 EXON Missense_V834I exm2256141 3 66433458 [A/G] NM_015541 LRIG1 EXON Synonymous_C813C exm328640 3 66433484 [T/C] NM_015541 LRIG1 EXON Missense_V805I exm328644 3 66433522 [A/G] NM_015541 LRIG1 EXON Missense_T792M exm328655 3 66433640 [T/C] NM_015541 LRIG1 EXON Missense_V753M exm328662 3 66433702 [A/G] NM_015541 LRIG1 EXON Missense_P732L exm328665 3 66433730 [A/G] NM_015541 LRIG1 EXON Missense_R723C exm328666 3 66433735 [A/G] NM_015541 LRIG1 EXON Missense_P721L exm328670 3 66433748 [T/C] NM_015541 LRIG1 EXON Missense_T717A exm328673 3 66433793 [A/G] NM_015541 LRIG1 EXON Missense_R702C exm328676 3 66434423 [C/G] NM_015541 LRIG1 EXON Missense_T688S exm328684 3 66434643 [T/C] NM_015541 LRIG1 EXON Missense_M615V exm328688 3 66434675 [A/G] NM_015541 LRIG1 EXON Missense_T604M exm328693 3 66434696 [A/G] NM_015541 LRIG1 EXON Missense_V597A exm328700 3 66436474 [A/G] NM_015541 LRIG1 EXON Missense_R574C exm328709 3 66436537 [T/C] NM_015541 LRIG1 EXON Missense_G553R exm328712 3 66436546 [T/C] NM_015541 LRIG1 EXON Missense_A550T exm328720 3 66436679 [T/C] NM_015541 LRIG1 EXON Missense_M505I exm328741 3 66455656 [T/C] NM_015541 LRIG1 EXON Missense_G376S exm2060132 3 66455701 [C/G] NM_015541 LRIG1 EXON Missense_D361H exm328746 3 66457776 [T/C] NM_015541 LRIG1 EXON Missense_V359I exm328751 3 66457866 [T/C] NM_015541 LRIG1 EXON Missense_E329K exm328763 3 66460631 [T/C] NM_015541 LRIG1 EXON Missense_H286R exm328764 3 66460640 [A/G] NM_015541 LRIG1 EXON Missense_T283M exm328773 3 66463340 [T/C] NM_015541 LRIG1 EXON Missense_K249R exm328776 3 66463388 [T/C] NM_015541 LRIG1 EXON Missense_G233E exm328778 3 66463430 [T/C] NM_015541 LRIG1 EXON Missense_N219S exm328779 3 66463437 [T/C] NM_015541 LRIG1 EXON Missense_D217N exm328781 3 66465378 [T/C] NM_015541 LRIG1 EXON Missense_V205I exm2060147 3 66465453 [A/C] NM_015541 LRIG1 EXON Missense_L180V exm328788 3 66467568 [A/G] NM_015541 LRIG1 EXON Missense_P163L exm2060155 3 66502031 [A/G] NM_015541 LRIG1 EXON Missense_A106V exm328816 3 66512866 [T/C] NM_015541 LRIG1 EXON Missense_E96K exm2269633 3 66539628 [T/C] NM_015541 LRIG1 Silent exm328825 3 66550756 [C/G] NM_015541 LRIG1 EXON Missense_L26V exm2269460 3 66714410 [T/C] exm-rs11709625 3 66823157 [A/C] exm328847 3 67053926 [T/C] NM_032505 KBTBD8 EXON Missense_F179L exm328855 3 67054115 [T/C] NM_032505 KBTBD8 EXON Missense_F242L exm328856 3 67054127 [A/G] NM_032505 KBTBD8 EXON Missense_E246K exm328863 3 67054317 [T/C] NM_032505 KBTBD8 EXON Missense_I309T exm328868 3 67054564 [A/T] NM_032505 KBTBD8 EXON Missense_K391N exm328875 3 67054649 [T/C] NM_032505 KBTBD8 EXON Missense_C420R exm328881 3 67058351 [T/C] NM_032505 KBTBD8 EXON Missense_F450L exm328888 3 67058535 [A/G] NM_032505 KBTBD8 EXON Missense_R511H exm328897 3 67058769 [T/C] NM_032505 KBTBD8 EXON Missense_V589A exm2269634 3 67291478 [T/C] exm2269461 3 67320030 [T/C] exm328900 3 67411103 [T/C] NM_001177599 SUCLG2 EXON Missense_V425I exm328902 3 67411166 [A/G] NM_001177599 SUCLG2 EXON Missense_Y404H exm-rs17806888 3 67416322 [T/C] NM_001177599 SUCLG2 Silent exm328905 3 67426242 [T/C] NM_001177599,NM_003848 SUCLG2,SUCLG2 EXON Silent,Missense_G409R exm328909 3 67426281 [T/C] NM_001177599,NM_003848 SUCLG2,SUCLG2 EXON Silent,Missense_T396A exm328914 3 67451188 [T/C] NM_001177599,NM_003848 SUCLG2,SUCLG2 EXON Missense_E384K,Missense_E384K exm328915 3 67451197 [A/G] NM_001177599,NM_003848 SUCLG2,SUCLG2 EXON Missense_R381W,Missense_R381W exm328947 3 67568723 [T/G] NM_001177599,NM_003848 SUCLG2,SUCLG2 EXON Missense_Q203P,Missense_Q203P exm328955 3 67578596 [A/G] NM_001177599,NM_003848 SUCLG2,SUCLG2 EXON Missense_A126V,Missense_A126V exm328956 3 67578624 [T/C] NM_001177599,NM_003848 SUCLG2,SUCLG2 EXON Missense_A117T,Missense_A117T exm328959 3 67579535 [T/C] NM_001177599,NM_003848 SUCLG2,SUCLG2 EXON Missense_K101R,Missense_K101R exm328960 3 67579542 [A/C] NM_001177599,NM_003848 SUCLG2,SUCLG2 EXON Missense_G99C,Missense_G99C exm2269462 3 67657497 [T/G] NM_001177599,NM_003848 SUCLG2,SUCLG2 Silent,Silent exm328969 3 67659983 [T/G] NM_001177599,NM_003848 SUCLG2,SUCLG2 EXON Missense_Q41P,Missense_Q41P exm2265461 3 68102663 [A/G] NM_001252216,NM_213609 FAM19A1,FAM19A1 Silent,Silent exm2265591 3 68362436 [A/G] NM_001252216,NM_213609 FAM19A1,FAM19A1 Silent,Silent exm329008 3 68802026 [A/C] NM_001005527,NM_182522 FAM19A4,FAM19A4 EXON Missense_S92A,Missense_S92A exm329011 3 68802082 [A/G] NM_001005527,NM_182522 FAM19A4,FAM19A4 EXON Missense_T73M,Missense_T73M exm329013 3 68802092 [A/G] NM_001005527,NM_182522 FAM19A4,FAM19A4 EXON Missense_R70W,Missense_R70W exm2269463 3 68812466 [T/C] NM_001005527,NM_182522 FAM19A4,FAM19A4 Silent,Silent exm329017 3 68929887 [A/G] NM_001005527,NM_182522 FAM19A4,FAM19A4 EXON Missense_H42Y,Missense_H42Y exm329019 3 68929893 [A/G] NM_001005527,NM_182522 FAM19A4,FAM19A4 EXON Missense_R40W,Missense_R40W exm329025 3 68934335 [T/C] NM_001005527,NM_182522 FAM19A4,FAM19A4 EXON Missense_R2K,Missense_R2K exm-rs3925004 3 68963500 [A/C] NM_001005527,NM_182522 FAM19A4,FAM19A4 Silent,Silent exm329030 3 69026778 [A/C] NM_173654 EOGT EXON Missense_D441E exm329042 3 69027587 [T/C] NM_173654 EOGT Silent exm329047 3 69031963 [T/C] NM_173654 EOGT EXON Missense_R321G exm329073 3 69053565 [A/G] NM_173654 EOGT EXON Missense_T195M exm329076 3 69053586 [T/A] NM_173654 EOGT EXON Missense_K188I exm329077 3 69053587 [A/T] NM_173654 EOGT EXON Nonsense_K188X exm329084 3 69056950 [T/C] NM_173654 EOGT EXON Missense_E112K exm329086 3 69057585 [A/G] NM_173654 EOGT EXON Missense_M102T exm329097 3 69058843 [T/C] NM_173654 EOGT EXON Missense_H52R exm329098 3 69058876 [A/C] NM_173654 EOGT EXON Missense_R41L exm329104 3 69058948 [T/C] NM_173654 EOGT EXON Missense_S17N exm329115 3 69073206 [T/C] NM_007114 TMF1 EXON Synonymous_R1046R exm329117 3 69073223 [A/G] NM_007114 TMF1 EXON Missense_L1041F exm2060257 3 69074781 [A/G] NM_007114 TMF1 EXON Missense_A981V exm329129 3 69075245 [A/G] NM_007114 TMF1 EXON Missense_R921C exm329132 3 69077140 [A/C] NM_007114 TMF1 EXON Missense_L890V exm329134 3 69077412 [A/G] NM_007114 TMF1 EXON Missense_Y877H exm2256148 3 69079037 [T/C] NM_007114 TMF1 EXON Synonymous_E841E exm2060266 3 69079051 [T/G] NM_007114 TMF1 EXON Missense_L837I exm2060267 3 69079081 [G/C] NM_007114 TMF1 EXON Missense_Q827E exm329144 3 69082708 [C/G] NM_007114 TMF1 EXON Missense_D798H exm329146 3 69082740 [A/G] NM_007114 TMF1 EXON Missense_S787L exm329152 3 69082833 [T/C] NM_007114 TMF1 EXON Missense_R756Q exm329162 3 69087804 [A/G] NM_007114 TMF1 EXON Missense_R688C exm2240055 3 69087821 [T/C] NM_007114 TMF1 EXON Missense_Q682R exm329178 3 69092014 [A/T] NM_007114 TMF1 EXON Missense_E543V exm329187 3 69096513 [T/C] NM_007114 TMF1 EXON Missense_C448Y exm329191 3 69096568 [C/G] NM_007114 TMF1 EXON Missense_Q430E exm329194 3 69096787 [A/G] NM_007114 TMF1 EXON Missense_P357S exm329201 3 69096972 [A/G] NM_007114 TMF1 EXON Missense_L295P exm329205 3 69097140 [T/C] NM_007114 TMF1 EXON Missense_S239N exm329206 3 69097162 [C/G] NM_007114 TMF1 EXON Missense_Q232E exm329208 3 69097240 [T/G] NM_007114 TMF1 EXON Missense_T206P exm2060292 3 69097297 [T/C] NM_007114 TMF1 EXON Missense_M187V exm329212 3 69097324 [T/C] NM_007114 TMF1 EXON Missense_E178K exm329223 3 69097630 [T/C] NM_007114 TMF1 EXON Missense_A76T exm329225 3 69097647 [C/G] NM_007114 TMF1 EXON Missense_P70R exm2060319 3 69112288 [T/C] NM_003968,NM_198195 UBA3,UBA3 EXON Missense_I180V,Missense_I166V exm329296 3 69129491 [T/C] NM_003968,NM_198195 UBA3,UBA3 EXON Missense_E5G,Missense_E5G exm329298 3 69129497 [T/C] NM_003968,NM_198195 UBA3,UBA3 EXON Missense_D3G,Missense_D3G exm329305 3 69151024 [A/C] NM_006407 ARL6IP5 EXON Missense_I71L exm329307 3 69151049 [G/C] NM_006407 ARL6IP5 EXON Missense_G79A exm329310 3 69151087 [T/C] NM_006407 ARL6IP5 EXON Missense_R92W exm329312 3 69151117 [A/G] NM_006407 ARL6IP5 EXON Missense_V102I exm329321 3 69153645 [A/G] NM_006407 ARL6IP5 EXON Missense_R142Q exm329322 3 69153684 [A/T] NM_006407 ARL6IP5 EXON Missense_I155K exm329330 3 69158250 [A/G] NM_198271 LMOD3 EXON Missense_A560V exm329331 3 69158262 [T/G] NM_198271 LMOD3 EXON Missense_P556Q exm329335 3 69167851 [T/G] NM_198271 LMOD3 EXON Missense_P552H exm329336 3 69167861 [A/G] NM_198271 LMOD3 EXON Missense_Y549H exm329347 3 69168013 [T/C] NM_198271 LMOD3 EXON Missense_R498Q exm329352 3 69168083 [T/C] NM_198271 LMOD3 EXON Missense_A475T exm329357 3 69168193 [T/A] NM_198271 LMOD3 EXON Missense_K438M exm329359 3 69168249 [C/G] NM_198271 LMOD3 EXON Missense_M419I exm329362 3 69168280 [T/C] NM_198271 LMOD3 EXON Missense_Q409R exm329367 3 69168362 [A/G] NM_198271 LMOD3 EXON Missense_P382S exm329369 3 69168383 [A/G] NM_198271 LMOD3 EXON Missense_Y375H exm329375 3 69168628 [T/C] NM_198271 LMOD3 EXON Missense_G293D exm329381 3 69168718 [A/G] NM_198271 LMOD3 EXON Missense_I263T exm2240065 3 69168898 [C/G] NM_198271 LMOD3 EXON Missense_P203R exm329406 3 69171285 [T/G] NM_198271 LMOD3 EXON Missense_L85M exm329407 3 69171286 [T/C] NM_198271 LMOD3 EXON Missense_M84I exm329409 3 69171290 [T/C] NM_198271 LMOD3 EXON Missense_R83H exm329410 3 69171291 [A/G] NM_198271 LMOD3 EXON Missense_R83C exm2269635 3 69206654 [T/G] exm329456 3 69230061 [A/G] NM_015123 FRMD4B EXON Missense_S947L exm329458 3 69230070 [T/C] NM_015123 FRMD4B EXON Missense_R944H exm329462 3 69230224 [A/C] NM_015123 FRMD4B EXON Missense_A893S exm329467 3 69230359 [T/C] NM_015123 FRMD4B EXON Missense_E848K exm329472 3 69230407 [C/G] NM_015123 FRMD4B EXON Missense_Q832E exm329477 3 69230511 [T/C] NM_015123 FRMD4B EXON Missense_Q797R exm329478 3 69230514 [G/C] NM_015123 FRMD4B EXON Missense_S796T exm329479 3 69230554 [G/C] NM_015123 FRMD4B EXON Missense_A783P exm329480 3 69230566 [T/C] NM_015123 FRMD4B EXON Missense_M779V exm329484 3 69230622 [G/C] NM_015123 FRMD4B EXON Missense_T760S exm329491 3 69230779 [T/C] NM_015123 FRMD4B EXON Missense_D708N exm329498 3 69230847 [G/C] NM_015123 FRMD4B EXON Missense_S685C exm329500 3 69231756 [C/G] NM_015123 FRMD4B EXON Missense_H678D exm329503 3 69231791 [A/G] NM_015123 FRMD4B EXON Missense_T666M exm329509 3 69236991 [C/G] NM_015123 FRMD4B EXON Missense_L617V exm329513 3 69239047 [T/G] NM_015123 FRMD4B EXON Missense_P591T exm329518 3 69242802 [A/G] NM_015123 FRMD4B EXON Missense_P571S exm329519 3 69242853 [T/C] NM_015123 FRMD4B EXON Missense_E554K exm329522 3 69242891 [C/G] NM_015123 FRMD4B EXON Missense_A541G exm329524 3 69243011 [T/C] NM_015123 FRMD4B EXON Missense_Q501R exm329532 3 69244222 [T/C] NM_015123 FRMD4B EXON Missense_R480H exm329533 3 69244237 [A/G] NM_015123 FRMD4B EXON Missense_P475L exm329534 3 69244252 [A/G] NM_015123 FRMD4B EXON Missense_I470T exm329536 3 69244405 [T/C] NM_015123 FRMD4B EXON Missense_K449E exm329538 3 69244498 [T/C] NM_015123 FRMD4B EXON Missense_V418I exm329540 3 69245429 [T/C] NM_015123 FRMD4B EXON Missense_S404N exm329542 3 69245454 [T/C] NM_015123 FRMD4B EXON Missense_T396A exm2060400 3 69246065 [A/G] NM_015123 FRMD4B EXON Missense_R360W exm329554 3 69247888 [T/C] NM_015123 FRMD4B EXON Missense_R305H exm-rs6806528 3 69252899 [T/C] NM_015123 FRMD4B Silent exm329561 3 69265419 [A/G] NM_015123 FRMD4B EXON Missense_R291W exm329563 3 69265476 [C/G] NM_015123 FRMD4B EXON Missense_L272V exm2060407 3 69265500 [T/C] NM_015123 FRMD4B EXON Missense_D264N exm329573 3 69273822 [A/C] NM_015123 FRMD4B EXON Missense_D201Y exm329578 3 69299233 [G/C] NM_015123 FRMD4B EXON Missense_E173D exm329579 3 69336917 [A/C] NM_015123 FRMD4B EXON Missense_A163S exm329580 3 69336918 [A/C] NM_015123 FRMD4B EXON Missense_K162N exm329586 3 69351582 [C/G] NM_015123 FRMD4B EXON Missense_Q110E exm329591 3 69360466 [A/G] NM_015123 FRMD4B EXON Missense_H91Y exm329593 3 69360504 [T/C] NM_015123 FRMD4B EXON Missense_K78R exm2269464 3 69422051 [T/C] NM_015123 FRMD4B Silent exm-rs922948 3 69442637 [A/G] exm2269465 3 69592507 [T/C] exm-rs7647307 3 69623188 [T/G] exm-rs11128141 3 69779740 [A/C] exm329607 3 69813078 [A/G] NM_198159,NM_001184967,NM_006722 MITF,MITF,MITF EXON Silent,Silent,Missense_C29Y exm329630 3 69987012 [A/C] NM_198159,NM_001184967,NM_006722,NM_198177,NM_001184968,NM_000248,NM_198178,NM_198158 MITF,MITF,MITF,MITF,MITF,MITF,MITF,MITF EXON Missense_Q132K,Missense_Q80K,Missense_Q131K,Missense_Q116K,Missense_Q25K,Missense_Q25K,Missense_Q25K,Missense_Q25K exm2060440 3 69988289 [A/G] NM_198159,NM_001184967,NM_006722,NM_198177,NM_000248,NM_198178,NM_198158 MITF,MITF,MITF,MITF,MITF,MITF,MITF EXON Missense_E208G,Missense_E156G,Missense_E207G,Missense_E192G,Missense_E101G,Missense_E45G,Missense_E101G exm329647 3 69990446 [C/G] NM_198159,NM_001184967,NM_006722,NM_198177,NM_000248,NM_198178,NM_198158 MITF,MITF,MITF,MITF,MITF,MITF,MITF EXON Missense_L242F,Missense_L190F,Missense_L241F,Missense_L226F,Missense_L135F,Missense_L79F,Missense_L135F exm329648 3 69990481 [T/C] NM_198159,NM_001184967,NM_006722,NM_198177,NM_000248,NM_198178,NM_198158 MITF,MITF,MITF,MITF,MITF,MITF,MITF EXON Missense_T254M,Missense_T202M,Missense_T253M,Missense_T238M,Missense_T147M,Missense_T91M,Missense_T147M exm329672 3 70014031 [T/C] NM_198159,NM_001184967,NM_006722,NM_198177,NM_000248,NM_198178,NM_198158 MITF,MITF,MITF,MITF,MITF,MITF,MITF EXON Missense_S399P,Missense_S347P,Missense_S398P,Missense_S383P,Missense_S298P,Missense_S236P,Missense_S292P exm329674 3 70014091 [A/G] NM_198159,NM_001184967,NM_006722,NM_198177,NM_000248,NM_198178,NM_198158 MITF,MITF,MITF,MITF,MITF,MITF,MITF EXON Missense_E419K,Missense_E367K,Missense_E418K,Missense_E403K,Missense_E318K,Missense_E256K,Missense_E312K exm329675 3 70014098 [T/C] NM_198159,NM_001184967,NM_006722,NM_198177,NM_000248,NM_198178,NM_198158 MITF,MITF,MITF,MITF,MITF,MITF,MITF EXON Missense_V421A,Missense_V369A,Missense_V420A,Missense_V405A,Missense_V320A,Missense_V258A,Missense_V314A exm2060455 3 70014199 [A/C] NM_198159,NM_001184967,NM_006722,NM_198177,NM_000248,NM_198178,NM_198158 MITF,MITF,MITF,MITF,MITF,MITF,MITF EXON Missense_L455I,Missense_L403I,Missense_L454I,Missense_L439I,Missense_L354I,Missense_L292I,Missense_L348I exm329677 3 70014202 [A/G] NM_198159,NM_001184967,NM_006722,NM_198177,NM_000248,NM_198178,NM_198158 MITF,MITF,MITF,MITF,MITF,MITF,MITF EXON Missense_G456R,Missense_G404R,Missense_G455R,Missense_G440R,Missense_G355R,Missense_G293R,Missense_G349R exm329679 3 70014230 [T/A] NM_198159,NM_001184967,NM_006722,NM_198177,NM_000248,NM_198178,NM_198158 MITF,MITF,MITF,MITF,MITF,MITF,MITF EXON Missense_Y465F,Missense_Y413F,Missense_Y464F,Missense_Y449F,Missense_Y364F,Missense_Y302F,Missense_Y358F exm329687 3 70014391 [A/G] NM_198159,NM_001184967,NM_006722,NM_198177,NM_000248,NM_198178,NM_198158 MITF,MITF,MITF,MITF,MITF,MITF,MITF EXON Missense_T519A,Missense_T467A,Missense_T518A,Missense_T503A,Missense_T418A,Missense_T356A,Missense_T412A exm2261534 3 70136592 [T/G] exm2265462 3 70274229 [A/G] exm2263993 3 70397985 [A/C] exm-rs1024889 3 70463330 [A/G] exm329716 3 71015105 [T/C] NM_001244816,NM_001244813,NM_032682,NM_001244808,NM_001244814,NM_001244815,NM_001244810,NM_001244812 FOXP1,FOXP1,FOXP1,FOXP1,FOXP1,FOXP1,FOXP1,FOXP1 EXON Missense_A609T,Missense_A509T,Missense_A609T,Missense_A608T,Missense_A609T,Missense_A611T,Missense_A625T,Missense_A533T exm329723 3 71015168 [T/C] NM_001244816,NM_001244813,NM_032682,NM_001244808,NM_001244814,NM_001244815,NM_001244810,NM_001244812 FOXP1,FOXP1,FOXP1,FOXP1,FOXP1,FOXP1,FOXP1,FOXP1 EXON Missense_A588T,Missense_A488T,Missense_A588T,Missense_A587T,Missense_A588T,Missense_A590T,Missense_A604T,Missense_A512T exm329729 3 71019900 [T/C] NM_001244816,NM_001244813,NM_032682,NM_001244808,NM_001244814,NM_001244815,NM_001244810,NM_001244812 FOXP1,FOXP1,FOXP1,FOXP1,FOXP1,FOXP1,FOXP1,FOXP1 EXON Missense_N570S,Missense_N470S,Missense_N570S,Missense_N569S,Missense_N570S,Missense_N572S,Missense_N586S,Missense_N494S exm329730 3 71019907 [A/G] NM_001244816,NM_001244813,NM_032682,NM_001244808,NM_001244814,NM_001244815,NM_001244810,NM_001244812 FOXP1,FOXP1,FOXP1,FOXP1,FOXP1,FOXP1,FOXP1,FOXP1 EXON Missense_P568S,Missense_P468S,Missense_P568S,Missense_P567S,Missense_P568S,Missense_P570S,Missense_P584S,Missense_P492S exm-rs17651978 3 71020490 [A/G] NM_001244816,NM_001244813,NM_032682,NM_001244808,NM_001244814,NM_001244815,NM_001244810,NM_001244812 FOXP1,FOXP1,FOXP1,FOXP1,FOXP1,FOXP1,FOXP1,FOXP1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm329746 3 71026994 [T/C] NM_001244816,NM_001244813,NM_032682,NM_001244808,NM_001244814,NM_001244815,NM_001244810,NM_001244812 FOXP1,FOXP1,FOXP1,FOXP1,FOXP1,FOXP1,FOXP1,FOXP1 EXON Missense_V445M,Missense_V345M,Missense_V445M,Missense_V445M,Missense_V445M,Missense_V447M,Missense_V445M,Missense_V369M exm329750 3 71027093 [T/C] NM_001244816,NM_001244813,NM_032682,NM_001244808,NM_001244814,NM_001244815,NM_001244810,NM_001244812 FOXP1,FOXP1,FOXP1,FOXP1,FOXP1,FOXP1,FOXP1,FOXP1 EXON Missense_A412T,Missense_A312T,Missense_A412T,Missense_A412T,Missense_A412T,Missense_A414T,Missense_A412T,Missense_A336T exm329753 3 71027110 [G/C] NM_001244816,NM_001244813,NM_032682,NM_001244808,NM_001244814,NM_001244815,NM_001244810,NM_001244812 FOXP1,FOXP1,FOXP1,FOXP1,FOXP1,FOXP1,FOXP1,FOXP1 EXON Missense_T406S,Missense_T306S,Missense_T406S,Missense_T406S,Missense_T406S,Missense_T408S,Missense_T406S,Missense_T330S exm329770 3 71096114 [G/C] NM_001244816,NM_001244813,NM_032682,NM_001244808,NM_001244814,NM_001244815,NM_001244810,NM_001244812 FOXP1,FOXP1,FOXP1,FOXP1,FOXP1,FOXP1,FOXP1,FOXP1 EXON Missense_P215A,Missense_P115A,Missense_P215A,Missense_P215A,Missense_P215A,Missense_P217A,Missense_P215A,Missense_P139A exm2269637 3 71103136 [T/C] NM_001244816,NM_001244813,NM_032682,NM_001244808,NM_001244814,NM_001244815,NM_001244810,NM_001244812 FOXP1,FOXP1,FOXP1,FOXP1,FOXP1,FOXP1,FOXP1,FOXP1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm2263994 3 71145830 [A/C] NM_001244816,NM_032682,NM_001244808,NM_001244814,NM_001244815,NM_001244810,NM_001244812 FOXP1,FOXP1,FOXP1,FOXP1,FOXP1,FOXP1,FOXP1 Silent,Silent,Silent,Silent,Silent,Silent,Silent exm2256153 3 71330949 [T/C] NM_001244816,NM_032682,NM_001244808,NM_001244810,NM_001244812,NM_001012505 FOXP1,FOXP1,FOXP1,FOXP1,FOXP1,FOXP1 Silent,Silent,Silent,Silent,Silent,Silent exm-rs7617596 3 71521494 [T/C] NM_001244816,NM_032682,NM_001244808,NM_001244810,NM_001012505 FOXP1,FOXP1,FOXP1,FOXP1,FOXP1 Silent,Silent,Silent,Silent,Silent exm329863 3 71804047 [T/G] NM_018971 GPR27 EXON Missense_C283G exm329868 3 71804101 [A/G] NM_018971 GPR27 EXON Missense_V301I exm329880 3 71821933 [T/G] NM_021935,NM_001126128 PROK2,PROK2 EXON Missense_P90Q,Missense_P111Q exm2060520 3 71821952 [A/G] NM_021935,NM_001126128 PROK2,PROK2 EXON Missense_H84Y,Missense_H105Y exm329884 3 71821969 [A/G] NM_021935,NM_001126128 PROK2,PROK2 EXON Missense_F78S,Missense_F99S exm329892 3 71830718 [T/C] NM_021935,NM_001126128 PROK2,PROK2 EXON Missense_G41D,Missense_G41D exm2265463 3 72064190 [A/G] exm-rs9863706 3 72437413 [T/C] NM_012234 RYBP Silent exm2261538 3 72590900 [T/C] exm2256157 3 72650801 [A/G] exm329917 3 72799481 [T/C] NM_018130 SHQ1 EXON Missense_R563H exm329920 3 72799548 [T/C] NM_018130 SHQ1 EXON Missense_E541K exm329928 3 72799703 [T/C] NM_018130 SHQ1 EXON Missense_S489N exm329934 3 72799870 [T/G] NM_018130 SHQ1 EXON Missense_E433D exm2060547 3 72873586 [T/C] NM_018130 SHQ1 EXON Missense_H239R exm329953 3 72873677 [T/C] NM_018130 SHQ1 EXON Missense_I209V exm329955 3 72881596 [A/C] NM_018130 SHQ1 EXON Missense_D175Y exm329956 3 72881614 [T/C] NM_018130 SHQ1 EXON Missense_I169V exm2276856 3 72890222 [A/G] NM_018130 SHQ1 EXON Nonsense_R154X exm329962 3 72890350 [T/C] NM_018130 SHQ1 EXON Missense_G111D exm329972 3 72897412 [A/G] NM_018130 SHQ1 EXON Missense_S27F exm329977 3 72897459 [A/C] NM_018130 SHQ1 EXON Missense_D11E exm329978 3 72897467 [T/C] NM_018130 SHQ1 EXON Missense_S9G exm329988 3 72957538 [A/G] NM_001080393 GXYLT2 EXON Missense_S99N exm329991 3 72957561 [A/G] NM_001080393 GXYLT2 EXON Missense_E107K exm329993 3 72957570 [A/C] NM_001080393 GXYLT2 EXON Missense_I110L exm329994 3 72957598 [A/G] NM_001080393 GXYLT2 EXON Missense_N119S exm329997 3 72957607 [A/G] NM_001080393 GXYLT2 EXON Missense_E122G exm2240073 3 72957669 [A/C] NM_001080393 GXYLT2 EXON Missense_I143L exm330001 3 72971358 [T/C] NM_001080393 GXYLT2 EXON Missense_R158C exm330002 3 72971409 [A/G] NM_001080393 GXYLT2 EXON Missense_I175V exm2256158 3 73004278 [T/C] NM_001080393 GXYLT2 EXON Synonymous_L210L exm330010 3 73004360 [A/G] NM_001080393 GXYLT2 EXON Missense_A238T exm330017 3 73006396 [T/C] NM_001080393 GXYLT2 EXON Missense_T290I exm330021 3 73006482 [A/G] NM_001080393 GXYLT2 EXON Missense_I319V exm330039 3 73047240 [A/G] NM_174907 PPP4R2 EXON Missense_R16K exm330062 3 73111401 [C/G] NM_174907,NM_018029 PPP4R2,EBLN2 EXON Silent,Missense_P57A exm330065 3 73111425 [A/G] NM_174907,NM_018029 PPP4R2,EBLN2 EXON Silent,Missense_M65V exm330069 3 73111447 [A/G] NM_174907,NM_018029 PPP4R2,EBLN2 EXON Silent,Missense_D72G exm330096 3 73111624 [A/T] NM_174907,NM_018029 PPP4R2,EBLN2 EXON Silent,Missense_F131Y exm330098 3 73111724 [T/G] NM_174907,NM_018029 PPP4R2,EBLN2 EXON Silent,Nonsense_Y164X exm330102 3 73111809 [A/G] NM_174907,NM_018029 PPP4R2,EBLN2 EXON Silent,Missense_I193V exm330104 3 73111828 [A/G] NM_174907,NM_018029 PPP4R2,EBLN2 EXON Silent,Missense_D199G exm330108 3 73111900 [A/C] NM_174907,NM_018029 PPP4R2,EBLN2 EXON Silent,Nonsense_S223X exm2256160 3 73111973 [A/G] NM_174907,NM_018029 PPP4R2,EBLN2 EXON Silent,Synonymous_P247P exm2240079 3 73113179 [A/C] NM_174907 PPP4R2 EXON Missense_P174T exm330122 3 73113180 [T/C] NM_174907 PPP4R2 EXON Missense_P174L exm2240080 3 73113201 [A/C] NM_174907 PPP4R2 EXON Missense_K181T exm330131 3 73114003 [T/C] NM_174907 PPP4R2 EXON Synonymous_S213S exm330139 3 73114209 [C/G] NM_174907 PPP4R2 EXON Missense_S282C exm330141 3 73114266 [T/A] NM_174907 PPP4R2 EXON Missense_E301V exm2060596 3 73114272 [A/T] NM_174907 PPP4R2 EXON Missense_E303V exm330151 3 73114740 [A/C] NM_174907 PPP4R2 EXON Missense_S374Y exm2240082 3 73114751 [A/C] NM_174907 PPP4R2 EXON Missense_R378S exm2269467 3 73336315 [T/C] exm330161 3 73432565 [A/G] NM_015009 PDZRN3 EXON Missense_P1051L exm330176 3 73432944 [T/C] NM_015009 PDZRN3 EXON Missense_I925V exm330191 3 73433112 [T/C] NM_015009 PDZRN3 EXON Missense_K869E exm330206 3 73433306 [A/G] NM_015009 PDZRN3 EXON Missense_A804V exm330216 3 73433431 [C/G] NM_015009 PDZRN3 EXON Missense_E762D exm330232 3 73433730 [T/C] NM_015009 PDZRN3 EXON Missense_G663S exm330282 3 73439024 [G/C] NM_015009 PDZRN3 EXON Missense_D453E exm330285 3 73440206 [G/C] NM_015009 PDZRN3 EXON Missense_T439R exm330287 3 73440254 [T/C] NM_015009 PDZRN3 EXON Missense_Y423C exm330291 3 73450108 [T/G] NM_015009 PDZRN3 EXON Missense_H407N exm330292 3 73450146 [T/C] NM_015009 PDZRN3 EXON Missense_H394R exm2264027 3 73484914 [A/C] NM_015009 PDZRN3 Silent exm2269468 3 73609996 [T/C] NM_015009 PDZRN3 Silent exm-rs11128347 3 73619561 [C/G] NM_015009 PDZRN3 Silent exm330315 3 73657832 [T/C] NM_015009 PDZRN3 EXON Missense_E243K exm-rs6795429 3 73967610 [A/G] exm2256163 3 74112675 [A/G] exm330347 3 74315765 [T/G] NM_020872 CNTN3 EXON Missense_Q951H exm330348 3 74315770 [T/C] NM_020872 CNTN3 EXON Missense_V950I exm330352 3 74316427 [T/G] NM_020872 CNTN3 EXON Missense_T936K exm330358 3 74334458 [A/G] NM_020872 CNTN3 EXON Missense_T901M exm330361 3 74334560 [T/C] NM_020872 CNTN3 EXON Missense_R867Q exm330362 3 74334561 [A/G] NM_020872 CNTN3 EXON Missense_R867W exm330366 3 74334638 [T/C] NM_020872 CNTN3 EXON Missense_R841Q exm330371 3 74344356 [T/G] NM_020872 CNTN3 EXON Synonymous_A811A exm2256164 3 74344356 [T/G] NM_020872 CNTN3 EXON Synonymous_A811A exm330383 3 74349062 [T/C] NM_020872 CNTN3 EXON Missense_N708S exm330388 3 74350611 [T/C] NM_020872 CNTN3 EXON Missense_S678N exm2060678 3 74350618 [C/G] NM_020872 CNTN3 EXON Missense_V676L exm330391 3 74350674 [A/G] NM_020872 CNTN3 EXON Missense_T657M exm2240084 3 74350684 [T/C] NM_020872 CNTN3 EXON Missense_D654N exm330393 3 74350690 [T/C] NM_020872 CNTN3 EXON Missense_V652I exm330397 3 74350807 [T/C] NM_020872 CNTN3 EXON Missense_V646I exm330399 3 74350836 [T/C] NM_020872 CNTN3 EXON Missense_R636Q exm330400 3 74350837 [A/G] NM_020872 CNTN3 EXON Missense_R636W exm330403 3 74350869 [T/C] NM_020872 CNTN3 EXON Missense_H625R exm330406 3 74350933 [T/C] NM_020872 CNTN3 EXON Missense_V604M exm330413 3 74383974 [A/G] NM_020872 CNTN3 EXON Missense_P527L exm330415 3 74384005 [T/C] NM_020872 CNTN3 EXON Missense_V517I exm330416 3 74385683 [T/C] NM_020872 CNTN3 EXON Synonymous_T497T exm330418 3 74385708 [T/G] NM_020872 CNTN3 EXON Missense_N489T exm2060691 3 74385712 [T/C] NM_020872 CNTN3 EXON Missense_A488T exm330421 3 74385774 [A/G] NM_020872 CNTN3 EXON Missense_A467V exm2261540 3 74400688 [T/G] NM_020872 CNTN3 Silent exm2240086 3 74414809 [T/C] NM_020872 CNTN3 EXON Missense_V331M exm330441 3 74419065 [T/C] NM_020872 CNTN3 EXON Missense_K246E exm330442 3 74419073 [A/G] NM_020872 CNTN3 EXON Missense_S243L exm330443 3 74419076 [T/C] NM_020872 CNTN3 EXON Missense_G242D exm330446 3 74420434 [T/C] NM_020872 CNTN3 EXON Missense_V191M exm2256165 3 74452081 [T/G] NM_020872 CNTN3 Silent exm330459 3 74535742 [C/G] NM_020872 CNTN3 EXON Missense_H75D exm-rs9841544 3 75202547 [T/C] exm2265592 3 75373177 [A/G] exm2265467 3 75552718 [A/G] exm2240088 3 75786288 [A/G] NM_001128223 ZNF717 EXON Missense_L829P exm2240089 3 75786298 [T/C] NM_001128223 ZNF717 EXON Missense_K826E exm330616 3 75786403 [T/A] NM_001128223 ZNF717 EXON Missense_C791S exm2240090 3 75786421 [T/G] NM_001128223 ZNF717 EXON Missense_P785T exm2240091 3 75786430 [T/C] NM_001128223 ZNF717 EXON Missense_G782R exm2240092 3 75786586 [T/G] NM_001128223 ZNF717 EXON Missense_P730T exm330675 3 75786916 [A/C] NM_001128223 ZNF717 EXON Nonsense_E620X exm2240099 3 75787269 [T/G] NM_001128223 ZNF717 EXON Missense_T502K exm2240100 3 75787273 [T/G] NM_001128223 ZNF717 EXON Missense_H501N exm2240101 3 75787276 [T/C] NM_001128223 ZNF717 EXON Missense_T500A exm2240104 3 75787455 [A/G] NM_001128223,NR_036235 ZNF717,MIR4273 EXON Missense_V440A,Silent exm330731 3 75787511 [A/C] NM_001128223,NR_036235 ZNF717,MIR4273 EXON Missense_K421N,Silent exm330754 3 75787840 [A/C] NM_001128223 ZNF717 EXON Missense_A312S exm2240109 3 75787956 [T/G] NM_001128223 ZNF717 EXON Missense_H273P exm330768 3 75788033 [T/A] NM_001128223 ZNF717 EXON Missense_N247K exm330778 3 75788137 [T/C] NM_001128223 ZNF717 EXON Missense_E213K exm330779 3 75788146 [T/G] NM_001128223 ZNF717 EXON Missense_Q210K exm330791 3 75788217 [A/G] NM_001128223 ZNF717 EXON Missense_T186I exm330822 3 75790472 [T/C] NM_001128223 ZNF717 EXON Missense_A78T exm330823 3 75790478 [T/G] NM_001128223 ZNF717 EXON Missense_Q76K exm330825 3 75790513 [T/C] NM_001128223 ZNF717 EXON Missense_Y64C exm330826 3 75790516 [A/T] NM_001128223 ZNF717 EXON Missense_H63L exm330845 3 75790880 [A/G] NM_001128223 ZNF717 EXON Missense_V22A exm330848 3 75832483 [T/C] NM_001128223 ZNF717 EXON Missense_E11K exm2265593 3 75981747 [A/G] exm2269470 3 76126167 [T/C] exm2269471 3 76472055 [T/C] exm2269472 3 76992952 [T/C] exm2265594 3 77103671 [A/G] NM_002942 ROBO2 Silent exm330864 3 77147197 [A/C] NM_002942,NM_001128929 ROBO2,ROBO2 EXON Synonymous_R32R,Missense_A12E exm2269640 3 77378207 [T/C] NM_002942,NM_001128929 ROBO2,ROBO2 Silent,Silent exm2269473 3 77526031 [T/G] NM_002942,NM_001128929 ROBO2,ROBO2 Silent,Silent exm330880 3 77526678 [A/C] NM_002942,NM_001128929 ROBO2,ROBO2 EXON Missense_K168Q,Missense_E148A exm330884 3 77530268 [A/G] NM_002942,NM_001128929 ROBO2,ROBO2 EXON Missense_M189V,Missense_D169G exm330886 3 77530342 [G/C] NM_002942,NM_001128929 ROBO2,ROBO2 EXON Missense_D213E,Missense_Q194E exm330888 3 77542417 [A/G] NM_002942,NM_001128929 ROBO2,ROBO2 EXON Synonymous_R230R,Missense_A211T exm330893 3 77571941 [T/C] NM_002942,NM_001128929 ROBO2,ROBO2 EXON Synonymous_D274D,Nonsense_R255X exm330900 3 77595544 [A/G] NM_002942,NM_001128929 ROBO2,ROBO2 EXON Synonymous_T330T,Missense_S311G exm330905 3 77607101 [T/C] NM_002942,NM_001128929 ROBO2,ROBO2 EXON Missense_T413I,Synonymous_D393D exm330907 3 77607147 [T/G] NM_002942,NM_001128929 ROBO2,ROBO2 EXON Synonymous_T428T,Missense_A409S exm2060793 3 77614161 [A/G] NM_002942,NM_001128929 ROBO2,ROBO2 EXON Missense_Y580C,Synonymous_L560L exm330929 3 77614215 [T/C] NM_002942,NM_001128929 ROBO2,ROBO2 EXON Missense_I598T,Synonymous_D578D exm330934 3 77617558 [T/C] NM_002942,NM_001128929 ROBO2,ROBO2 EXON Synonymous_T648T,Missense_S629P exm330939 3 77623717 [T/C] NM_002942,NM_001128929 ROBO2,ROBO2 EXON Missense_A680V,Synonymous_G660G exm330941 3 77623752 [T/C] NM_002942,NM_001128929 ROBO2,ROBO2 EXON Missense_P692S,Missense_P672L exm330947 3 77629142 [T/G] NM_002942,NM_001128929 ROBO2,ROBO2 EXON Synonymous_T791T,Missense_C772G exm330950 3 77629163 [T/C] NM_002942,NM_001128929 ROBO2,ROBO2 EXON Synonymous_S798S,Missense_R779C exm330951 3 77629200 [T/C] NM_002942,NM_001128929 ROBO2,ROBO2 EXON Missense_R811W,Missense_P791L exm330952 3 77629201 [A/G] NM_002942,NM_001128929 ROBO2,ROBO2 EXON Missense_R811Q,Synonymous_P791P exm330960 3 77637967 [G/C] NM_002942,NM_001128929 ROBO2,ROBO2 EXON Missense_V856L,Missense_G836A exm330964 3 77645776 [A/G] NM_002942,NM_001128929 ROBO2,ROBO2 EXON Missense_R910H,Synonymous_P890P exm330965 3 77645777 [T/C] NM_002942,NM_001128929 ROBO2,ROBO2 EXON Synonymous_R910R,Missense_S891P exm330974 3 77651417 [A/G] NM_002942,NM_001128929 ROBO2,ROBO2 EXON Missense_G971R,Nonsense_W951X exm330976 3 77651445 [T/C] NM_002942,NM_001128929 ROBO2,ROBO2 EXON Missense_T980I,Synonymous_H960H exm330979 3 77651467 [T/C] NM_002942,NM_001128929 ROBO2,ROBO2 EXON Synonymous_S987S,Missense_F968L exm330982 3 77651581 [A/G] NM_002942,NM_001128929 ROBO2,ROBO2 EXON Synonymous_Q1025Q,Missense_A1006T exm331003 3 77666778 [T/C] NM_002942,NM_001128929 ROBO2,ROBO2 EXON Synonymous_G1136G,Missense_R1117C exm331008 3 77671489 [T/C] NM_002942,NM_001128929 ROBO2,ROBO2 EXON Synonymous_D1222D,Nonsense_R1203X exm331011 3 77671544 [T/C] NM_002942,NM_001128929 ROBO2,ROBO2 EXON Missense_P1241S,Missense_S1221F exm331013 3 77671576 [T/C] NM_002942,NM_001128929 ROBO2,ROBO2 EXON Synonymous_S1251S,Missense_C1232R exm331017 3 77684116 [T/C] NM_002942,NM_001128929 ROBO2,ROBO2 EXON Missense_R1286W,Missense_S1266L exm331018 3 77684117 [T/G] NM_002942,NM_001128929 ROBO2,ROBO2 EXON Missense_R1286L,Synonymous_S1266S exm331029 3 77693958 [T/C] NM_002942,NM_001128929 ROBO2,ROBO2 EXON Synonymous_T1346T,Nonsense_R1327X exm331031 3 77693976 [T/C] NM_002942,NM_001128929 ROBO2,ROBO2 EXON Synonymous_G1352G,Missense_P1333S exm-rs9836484 3 78044689 [A/G] exm2256175 3 78107128 [A/C] exm2269474 3 78280658 [T/C] exm-rs9831754 3 78353591 [T/G] exm-rs9834373 3 78498997 [T/G] exm2265595 3 78608819 [A/G] exm331038 3 78649293 [T/A] NM_002941,NM_133631,NM_001145845 ROBO1,ROBO1,ROBO1 EXON Missense_E1637D,Missense_E1592D,Missense_E1537D exm331050 3 78655944 [T/G] NM_002941,NM_133631,NM_001145845 ROBO1,ROBO1,ROBO1 EXON Missense_K1561N,Missense_K1516N,Missense_K1461N exm331054 3 78656017 [T/C] NM_002941,NM_133631,NM_001145845 ROBO1,ROBO1,ROBO1 EXON Missense_G1537E,Missense_G1492E,Missense_G1437E exm331057 3 78656028 [T/G] NM_002941,NM_133631,NM_001145845 ROBO1,ROBO1,ROBO1 EXON Missense_E1533D,Missense_E1488D,Missense_E1433D exm331058 3 78656062 [A/G] NM_002941,NM_133631,NM_001145845 ROBO1,ROBO1,ROBO1 EXON Missense_S1522L,Missense_S1477L,Missense_S1422L exm331065 3 78663873 [A/C] NM_002941,NM_133631,NM_001145845 ROBO1,ROBO1,ROBO1 EXON Missense_V1454L,Missense_V1409L,Missense_V1354L exm331071 3 78663947 [T/C] NM_002941,NM_133631,NM_001145845 ROBO1,ROBO1,ROBO1 EXON Missense_R1429H,Missense_R1384H,Missense_R1329H exm331072 3 78663949 [A/G] NM_002941,NM_133631,NM_001145845 ROBO1,ROBO1,ROBO1 EXON Synonymous_G1428G,Synonymous_G1383G,Synonymous_G1328G exm331086 3 78676530 [G/C] NM_002941,NM_133631,NM_001145845 ROBO1,ROBO1,ROBO1 EXON Missense_Q1272H,Missense_Q1227H,Missense_Q1172H exm331090 3 78676694 [T/C] NM_002941,NM_133631,NM_001145845 ROBO1,ROBO1,ROBO1 EXON Missense_V1218M,Missense_V1173M,Missense_V1118M exm331095 3 78680374 [A/G] NM_002941,NM_133631,NM_001145845 ROBO1,ROBO1,ROBO1 EXON Missense_P1188L,Missense_P1143L,Missense_P1088L exm331097 3 78680377 [A/G] NM_002941,NM_133631,NM_001145845 ROBO1,ROBO1,ROBO1 EXON Missense_P1187L,Missense_P1142L,Missense_P1087L exm331100 3 78685024 [T/C] NM_002941,NM_133631,NM_001145845 ROBO1,ROBO1,ROBO1 EXON Missense_S1091N,Missense_S1046N,Missense_S991N exm331124 3 78700929 [T/C] NM_002941,NM_133631,NM_001145845 ROBO1,ROBO1,ROBO1 EXON Missense_R922H,Missense_R886H,Missense_R886H exm331126 3 78701029 [C/G] NM_002941,NM_133631,NM_001145845 ROBO1,ROBO1,ROBO1 EXON Missense_Q889E,Missense_Q853E,Missense_Q853E exm331132 3 78710296 [T/C] NM_002941,NM_133631,NM_001145845 ROBO1,ROBO1,ROBO1 EXON Missense_S735N,Missense_S699N,Missense_S699N exm331135 3 78710311 [A/G] NM_002941,NM_133631,NM_001145845 ROBO1,ROBO1,ROBO1 EXON Missense_T730M,Missense_T694M,Missense_T694M exm331141 3 78711157 [T/C] NM_002941,NM_133631,NM_001145845 ROBO1,ROBO1,ROBO1 EXON Missense_E692K,Missense_E656K,Missense_E656K exm331155 3 78717699 [T/C] NM_002941,NM_133631,NM_001145845 ROBO1,ROBO1,ROBO1 EXON Missense_R522Q,Missense_R486Q,Missense_R486Q exm331156 3 78719256 [T/C] NM_002941,NM_133631,NM_001145845 ROBO1,ROBO1,ROBO1 EXON Missense_R513Q,Missense_R477Q,Missense_R477Q exm331180 3 78763613 [A/G] NM_002941,NM_133631,NM_001145845 ROBO1,ROBO1,ROBO1 EXON Missense_S327P,Missense_S288P,Missense_S288P exm331186 3 78766524 [A/G] NM_002941,NM_133631,NM_001145845 ROBO1,ROBO1,ROBO1 EXON Missense_V273A,Missense_V234A,Missense_V234A exm2269475 3 78865306 [T/G] NM_002941,NM_133631,NM_001145845 ROBO1,ROBO1,ROBO1 Silent,Silent,Silent exm331202 3 78987780 [A/C] NM_002941,NM_133631,NM_001145845 ROBO1,ROBO1,ROBO1 EXON Missense_V157G,Missense_V118G,Missense_V118G exm331224 3 79174657 [G/C] NM_002941 ROBO1 EXON Missense_G41R exm2265596 3 79354187 [A/G] NM_002941 ROBO1 Silent exm2256178 3 79499153 [T/C] NM_002941 ROBO1 Silent exm331229 3 79639036 [A/G] NM_002941 ROBO1 EXON Missense_L9S exm2256179 3 80023498 [T/C] exm2261546 3 80257958 [A/G] exm-rs9855082 3 80359855 [A/G] exm2269641 3 81019528 [T/C] exm2256182 3 81346834 [A/G] exm331234 3 81539593 [T/C] NM_000158 GBE1 EXON Missense_A692T exm331239 3 81548296 [T/C] NM_000158 GBE1 EXON Missense_A673T exm331248 3 81586077 [T/C] NM_000158 GBE1 EXON Nonsense_W596X exm331258 3 81627131 [T/G] NM_000158 GBE1 EXON Missense_K521N exm331264 3 81627175 [T/C] NM_000158 GBE1 EXON Missense_T507A exm331281 3 81640290 [A/C] NM_000158 GBE1 EXON Missense_S378R exm2256183 3 81643087 [T/C] NM_000158 GBE1 EXON Synonymous_T360T exm331285 3 81643167 [T/C] NM_000158 GBE1 EXON Missense_I334V exm2265469 3 81643583 [A/G] NM_000158 GBE1 Silent exm331289 3 81692085 [T/C] NM_000158 GBE1 EXON Missense_G280D exm331292 3 81698005 [A/G] NM_000158 GBE1 Silent exm331298 3 81698130 [T/C] NM_000158 GBE1 EXON Missense_R190G exm331307 3 81720068 [A/G] NM_000158 GBE1 EXON Missense_L117P exm331310 3 81754630 [A/G] NM_000158 GBE1 EXON Missense_P93L exm331315 3 81754732 [A/G] NM_000158 GBE1 EXON Missense_I59T exm331319 3 81810551 [T/G] NM_000158 GBE1 EXON Missense_P40T exm331326 3 81810654 [T/C] NM_000158 GBE1 EXON Missense_M5I exm2261548 3 82120191 [A/G] exm2269479 3 82280224 [T/C] exm2269642 3 82789651 [T/C] exm2269480 3 83089596 [T/C] exm2263996 3 83546019 [A/C] exm2265599 3 83770825 [A/G] exm2269481 3 83970229 [T/C] exm2265600 3 84270877 [A/G] exm-rs10511089 3 84481068 [T/G] exm2269482 3 84688248 [T/C] NR_033860 LOC440970 EXON Silent exm2265471 3 85015779 [A/G] NM_001167674,NM_001167675 CADM2,CADM2 Silent,Silent exm-rs13061527 3 85151828 [T/G] NM_001167674,NM_001167675 CADM2,CADM2 Silent,Silent exm2269643 3 85460131 [T/C] NM_001167674,NM_001167675 CADM2,CADM2 Silent,Silent exm2256193 3 85683470 [A/G] NM_001167674,NM_001167675,NM_001256503,NM_001256502,NM_001256504,NM_001256505 CADM2,CADM2,CADM2,CADM2,CADM2,CADM2 Silent,Silent,Silent,Silent,Silent,Silent exm331329 3 85775665 [A/G] NM_001167674,NM_001167675,NM_001256503,NM_001256502,NM_001256504,NM_001256505,NM_153184 CADM2,CADM2,CADM2,CADM2,CADM2,CADM2,CADM2 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_V12I exm331332 3 85851198 [T/C] NM_001167674,NM_001167675,NM_001256503,NM_001256502,NM_001256504,NM_001256505,NM_153184,NR_046752 CADM2,CADM2,CADM2,CADM2,CADM2,CADM2,CADM2,CADM2-AS2 EXON Synonymous_G21G,Synonymous_G30G,Silent,Silent,Silent,Silent,Synonymous_G23G,Silent exm331336 3 85851345 [A/G] NM_001167674,NM_001167675,NM_001256503,NM_001256502,NM_001256504,NM_001256505,NM_153184,NR_046752 CADM2,CADM2,CADM2,CADM2,CADM2,CADM2,CADM2,CADM2-AS2 EXON Synonymous_K70K,Synonymous_K79K,Silent,Silent,Silent,Silent,Synonymous_K72K,Silent exm-rs13078807 3 85884150 [A/G] NM_001167674,NM_001167675,NM_001256503,NM_001256502,NM_001256504,NM_001256505,NM_153184 CADM2,CADM2,CADM2,CADM2,CADM2,CADM2,CADM2 Silent,Silent,Silent,Silent,Silent,Silent,Silent exm331359 3 85985007 [T/C] NM_001167674,NM_001167675,NM_001256503,NM_001256502,NM_001256504,NM_001256505,NM_153184 CADM2,CADM2,CADM2,CADM2,CADM2,CADM2,CADM2 EXON Missense_L255P,Missense_L264P,Missense_L147P,Missense_L147P,Missense_L147P,Missense_L147P,Missense_L257P exm331365 3 86010704 [A/C] NM_001167674,NM_001167675,NM_001256503,NM_001256502,NM_001256504,NM_001256505,NM_153184 CADM2,CADM2,CADM2,CADM2,CADM2,CADM2,CADM2 EXON Missense_L284I,Missense_L293I,Missense_L176I,Missense_L176I,Missense_L176I,Missense_L176I,Missense_L286I exm2060972 3 86028395 [C/G] NM_001167674,NM_001167675,NM_001256503,NM_001256502,NM_001256504,NM_001256505,NM_153184 CADM2,CADM2,CADM2,CADM2,CADM2,CADM2,CADM2 EXON Missense_T342S,Silent,Missense_T234S,Missense_T234S,Silent,Silent,Missense_T344S exm2265473 3 86249401 [A/G] exm2269644 3 86637887 [T/G] exm-rs7642134 3 86916882 [A/G] exm331411 3 87017998 [T/G] NM_016206 VGLL3 EXON Missense_M227L exm331412 3 87018099 [A/T] NM_016206 VGLL3 EXON Missense_H193L exm331429 3 87039792 [G/C] NM_016206 VGLL3 EXON Missense_Q34H exm331432 3 87039857 [A/G] NM_016206 VGLL3 EXON Missense_Y13H exm-rs2660753 3 87110674 [T/C] exm-rs9284813 3 87152169 [A/G] exm-rs17181170 3 87173324 [A/G] exm-rs7629490 3 87241497 [T/C] exm331438 3 87289870 [A/G] NM_001244644,NM_014043 CHMP2B,CHMP2B EXON Silent,Missense_R19Q exm331439 3 87289878 [T/C] NM_001244644,NM_014043 CHMP2B,CHMP2B EXON Silent,Nonsense_R22X exm331440 3 87289899 [A/G] NM_001244644,NM_014043 CHMP2B,CHMP2B EXON Silent,Missense_I29V exm331441 3 87289902 [A/G] NM_001244644,NM_014043 CHMP2B,CHMP2B EXON Silent,Missense_R30G exm331451 3 87294955 [T/C] NM_001244644,NM_014043 CHMP2B,CHMP2B EXON Missense_T32M,Missense_T73M exm331463 3 87302890 [A/G] NM_001244644,NM_014043 CHMP2B,CHMP2B EXON Missense_S146N,Missense_S187N exm331464 3 87302911 [T/C] NM_001244644,NM_014043 CHMP2B,CHMP2B EXON Missense_S153L,Missense_S194L exm331488 3 87313507 [T/C] NM_000306,NM_001122757 POU1F1,POU1F1 EXON Missense_M124V,Missense_M150V exm331490 3 87313540 [A/G] NM_000306,NM_001122757 POU1F1,POU1F1 EXON Missense_R113W,Missense_R139W exm2061052 3 87313653 [T/G] NM_000306,NM_001122757 POU1F1,POU1F1 EXON Missense_T75N,Missense_T101N exm331498 3 87322572 [T/A] NM_000306,NM_001122757 POU1F1,POU1F1 EXON Silent,Missense_T73S exm2269645 3 87431686 [T/C] exm331510 3 88039942 [G/C] NM_000866 HTR1F EXON Missense_E15Q exm331515 3 88040035 [A/G] NM_000866 HTR1F EXON Missense_A46T exm331518 3 88040054 [A/G] NM_000866 HTR1F EXON Missense_R52Q exm331520 3 88040156 [A/G] NM_000866 HTR1F EXON Missense_R86K exm331521 3 88040158 [C/G] NM_000866 HTR1F EXON Missense_E87Q exm2256200 3 88040427 [T/C] NM_000866 HTR1F EXON Synonymous_H176H exm331534 3 88040459 [T/G] NM_000866 HTR1F EXON Missense_F187C exm331544 3 88040770 [C/G] NM_000866 HTR1F EXON Missense_A291P exm331570 3 88188791 [A/G] NM_001195308,NM_018293 CGGBP1,ZNF654 EXON Silent,Missense_V111M exm331571 3 88188798 [A/G] NM_001195308,NM_018293 CGGBP1,ZNF654 EXON Silent,Missense_E113G exm331585 3 88189341 [T/C] NM_001195308,NM_018293 CGGBP1,ZNF654 EXON Silent,Missense_I294T exm331590 3 88189580 [T/G] NM_001195308,NM_018293 CGGBP1,ZNF654 EXON Silent,Missense_S374A exm331596 3 88189878 [T/C] NM_001195308,NM_018293 CGGBP1,ZNF654 EXON Silent,Missense_T473I exm331601 3 88190049 [A/G] NM_001195308,NM_018293 CGGBP1,ZNF654 EXON Silent,Missense_C530Y exm331605 3 88190795 [A/G] NM_001195308,NM_018293 CGGBP1,ZNF654 EXON Silent,Missense_S580N exm331614 3 88199317 [T/C] NM_173824 C3orf38 EXON Nonsense_Q39X exm331621 3 88202490 [A/G] NM_173824 C3orf38 EXON Missense_I82V exm331622 3 88202512 [A/C] NM_173824 C3orf38 EXON Missense_H89P exm331638 3 88205454 [A/G] NM_173824 C3orf38 EXON Missense_H220R exm331646 3 88205579 [T/G] NM_173824 C3orf38 EXON Missense_V262L exm331647 3 88205601 [A/G] NM_173824 C3orf38 EXON Missense_K269R exm331651 3 88205660 [T/C] NM_173824 C3orf38 EXON Missense_P289S exm331652 3 88205681 [A/C] NM_173824 C3orf38 EXON Missense_S296R exm2263997 3 88374655 [A/C] exm2256202 3 88484631 [T/C] exm2264028 3 88518442 [A/C] exm-rs2880961 3 88524175 [T/C] exm2265474 3 89187123 [A/G] NM_182644,NM_005233 EPHA3,EPHA3 Silent,Silent exm2265601 3 89237732 [A/G] NM_182644,NM_005233 EPHA3,EPHA3 Silent,Silent exm331675 3 89259477 [T/G] NM_182644,NM_005233 EPHA3,EPHA3 EXON Missense_K207N,Missense_K207N exm331682 3 89259650 [A/G] NM_182644,NM_005233 EPHA3,EPHA3 EXON Missense_E265G,Missense_E265G exm2269486 3 89384566 [T/G] NM_182644,NM_005233 EPHA3,EPHA3 Silent,Silent exm331684 3 89390143 [G/C] NM_182644,NM_005233 EPHA3,EPHA3 EXON Missense_E298Q,Missense_E298Q exm331686 3 89390170 [A/G] NM_182644,NM_005233 EPHA3,EPHA3 EXON Missense_E307K,Missense_E307K exm331696 3 89391064 [A/G] NM_182644,NM_005233 EPHA3,EPHA3 EXON Missense_S377N,Missense_S377N exm331705 3 89445005 [T/C] NM_182644,NM_005233 EPHA3,EPHA3 EXON Missense_T442M,Missense_T442M exm331718 3 89456470 [T/C] NM_005233 EPHA3 EXON Missense_A549V exm331722 3 89456514 [A/G] NM_005233 EPHA3 EXON Missense_I564V exm331743 3 89480301 [A/C] NM_005233 EPHA3 EXON Missense_K713T exm331748 3 89480493 [G/C] NM_005233 EPHA3 EXON Missense_A777G exm331750 3 89498430 [A/T] NM_005233 EPHA3 EXON Missense_F801Y exm2256206 3 89521644 [T/C] NM_005233 EPHA3 EXON Synonymous_N907N exm331765 3 89521644 [T/C] NM_005233 EPHA3 EXON Synonymous_N907N exm331767 3 89521664 [A/G] NM_005233 EPHA3 EXON Missense_R914H exm331769 3 89521694 [A/G] NM_005233 EPHA3 EXON Nonsense_W924X exm2061175 3 89521763 [A/C] NM_005233 EPHA3 EXON Missense_S947Y exm2273374 3 89530956 [A/G] NM_005233 EPHA3 EXON Silent exm2261560 3 90056453 [A/G] exm2240143 3 93593130 [T/G] NM_000313 PROS1 EXON Missense_H664N exm331789 3 93595933 [T/G] NM_000313 PROS1 EXON Missense_N583H exm331798 3 93598150 [A/G] NM_000313 PROS1 EXON Missense_S501P exm2061282 3 93598157 [A/G] NM_000313 PROS1 EXON Synonymous_N498N exm331803 3 93603731 [A/G] NM_000313 PROS1 EXON Missense_R445C exm331818 3 93611911 [T/C] NM_000313 PROS1 EXON Missense_A341T exm331845 3 93629516 [G/C] NM_000313 PROS1 EXON Missense_T98S exm331846 3 93629525 [T/C] NM_000313 PROS1 EXON Missense_G95E exm331853 3 93646095 [A/G] NM_000313 PROS1 EXON Missense_T78M exm331855 3 93646101 [A/G] NM_000313 PROS1 EXON Missense_P76L exm331861 3 93646209 [A/C] NM_000313 PROS1 EXON Missense_R40L exm331871 3 93714764 [A/G] NM_182896,NM_001174151,NM_144996,NM_001174150,NR_033427 ARL13B,ARL13B,ARL13B,ARL13B,ARL13B EXON Missense_A36T,Silent,Silent,Missense_A36T,Silent exm331883 3 93733357 [T/C] NM_182896,NM_001174151,NM_144996,NM_001174150,NR_033427,NM_001001850 ARL13B,ARL13B,ARL13B,ARL13B,ARL13B,STX19 EXON Silent,Silent,Silent,Silent,Silent,Missense_T253A exm331897 3 93733695 [A/G] NM_182896,NM_001174151,NM_144996,NM_001174150,NR_033427,NM_001001850 ARL13B,ARL13B,ARL13B,ARL13B,ARL13B,STX19 EXON Silent,Silent,Silent,Silent,Silent,Missense_M140T exm331899 3 93733793 [T/G] NM_182896,NM_001174151,NM_144996,NM_001174150,NR_033427,NM_001001850 ARL13B,ARL13B,ARL13B,ARL13B,ARL13B,STX19 EXON Silent,Silent,Silent,Silent,Silent,Missense_R107S exm331903 3 93733913 [T/A] NM_182896,NM_001174151,NM_144996,NM_001174150,NR_033427,NM_001001850 ARL13B,ARL13B,ARL13B,ARL13B,ARL13B,STX19 EXON Silent,Silent,Silent,Silent,Silent,Missense_N67K exm331908 3 93734044 [A/C] NM_182896,NM_001174151,NM_144996,NM_001174150,NR_033427,NM_001001850 ARL13B,ARL13B,ARL13B,ARL13B,ARL13B,STX19 EXON Silent,Silent,Silent,Silent,Silent,Missense_S24A exm331912 3 93754191 [T/G] NM_182896,NM_001174151,NM_144996,NM_001174150,NR_033427 ARL13B,ARL13B,ARL13B,ARL13B,ARL13B EXON Missense_D133Y,Missense_D30Y,Missense_D26Y,Missense_D133Y,Silent exm2240148 3 93754195 [A/G] NM_182896,NM_001174151,NM_144996,NM_001174150,NR_033427 ARL13B,ARL13B,ARL13B,ARL13B,ARL13B EXON Missense_K134R,Missense_K31R,Missense_K27R,Missense_K134R,Silent exm2061334 3 93755477 [A/G] NM_182896,NM_001174151,NM_144996,NM_001174150,NR_033427 ARL13B,ARL13B,ARL13B,ARL13B,ARL13B EXON Missense_I190V,Missense_I87V,Missense_I83V,Missense_I190V,Silent exm331931 3 93758804 [T/C] NM_182896,NM_001174151,NM_144996,NM_001174150,NR_033427 ARL13B,ARL13B,ARL13B,ARL13B,ARL13B EXON Missense_F257S,Missense_F154S,Missense_F150S,Missense_F257S,Silent exm331934 3 93761891 [A/C] NM_182896,NM_001174151,NM_144996,NM_001174150,NR_033427 ARL13B,ARL13B,ARL13B,ARL13B,ARL13B EXON Missense_N277K,Missense_N174K,Missense_N170K,Missense_N277K,Silent exm331936 3 93761951 [T/A] NM_182896,NM_001174151,NM_144996,NM_001174150,NR_033427 ARL13B,ARL13B,ARL13B,ARL13B,ARL13B EXON Missense_Q297H,Missense_Q194H,Missense_Q190H,Missense_Q297H,Silent exm331937 3 93761956 [A/C] NM_182896,NM_001174151,NM_144996,NM_001174150,NR_033427 ARL13B,ARL13B,ARL13B,ARL13B,ARL13B EXON Missense_E299A,Missense_E196A,Missense_E192A,Missense_E299A,Silent exm331938 3 93762003 [A/G] NM_182896,NM_001174151,NM_144996,NM_001174150,NR_033427 ARL13B,ARL13B,ARL13B,ARL13B,ARL13B EXON Missense_G315R,Missense_G212R,Missense_G208R,Missense_G315R,Silent exm331940 3 93768268 [C/G] NM_182896,NM_001174151,NM_144996,NM_001174150,NR_033427 ARL13B,ARL13B,ARL13B,ARL13B,ARL13B EXON Missense_T348S,Missense_T245S,Missense_T241S,Missense_T348S,Silent exm331942 3 93768295 [A/G] NM_182896,NM_001174151,NM_144996,NM_001174150,NR_033427 ARL13B,ARL13B,ARL13B,ARL13B,ARL13B EXON Missense_H357R,Missense_H254R,Missense_H250R,Missense_H357R,Silent exm331943 3 93768315 [A/G] NM_182896,NM_001174151,NM_144996,NM_001174150,NR_033427 ARL13B,ARL13B,ARL13B,ARL13B,ARL13B EXON Missense_I364V,Missense_I261V,Missense_I257V,Missense_I364V,Silent exm331949 3 93769677 [A/G] NM_182896,NM_001174151,NM_144996,NM_001174150,NR_033427 ARL13B,ARL13B,ARL13B,ARL13B,ARL13B EXON Missense_G384E,Missense_G281E,Missense_G277E,Missense_G384E,Silent exm331950 3 93769712 [C/G] NM_182896,NM_001174151,NM_144996,NM_001174150,NR_033427 ARL13B,ARL13B,ARL13B,ARL13B,ARL13B EXON Missense_P396A,Missense_P293A,Missense_P289A,Missense_P396A,Silent exm331955 3 93772073 [A/G] NM_182896,NM_001174151,NM_144996,NM_001174150,NR_033427 ARL13B,ARL13B,ARL13B,ARL13B,ARL13B EXON Missense_R418Q,Missense_R315Q,Missense_R311Q,Missense_R418Q,Silent exm331956 3 93772081 [A/G] NM_182896,NM_001174151,NM_144996,NM_001174150,NR_033427 ARL13B,ARL13B,ARL13B,ARL13B,ARL13B EXON Missense_S421G,Missense_S318G,Missense_S314G,Missense_S421G,Silent exm331959 3 93779860 [T/C] NM_001195643,NM_176815 DHFRL1,DHFRL1 EXON Missense_V166I,Missense_V166I exm331987 3 93783369 [A/G] NM_022072 NSUN3 EXON Missense_G34E exm2269647 3 93784559 [T/C] NM_022072 NSUN3 Silent exm331990 3 93803000 [T/C] NM_022072 NSUN3 EXON Nonsense_R58X exm331993 3 93803041 [C/G] NM_022072 NSUN3 EXON Missense_L71F exm331994 3 93803061 [T/C] NM_022072 NSUN3 EXON Missense_S78F exm332008 3 93813882 [A/T] NM_022072 NSUN3 EXON Missense_L209F exm332009 3 93813935 [A/G] NM_022072 NSUN3 EXON Missense_Q227R exm332013 3 93813980 [T/A] NM_022072 NSUN3 EXON Missense_L242Q exm332015 3 93845062 [A/G] NM_022072 NSUN3 EXON Missense_I251V exm2269489 3 93991504 [T/C] exm2269490 3 94452002 [T/G] exm2265603 3 95020162 [A/G] exm2265475 3 95154073 [A/G] exm-rs4572767 3 95176677 [A/C] exm2261565 3 95353835 [A/C] exm2256218 3 95519536 [A/C] exm-rs9814870 3 95688843 [A/G] exm-rs4390941 3 95795276 [T/G] exm2269491 3 95906561 [T/C] exm-rs1395769 3 96442435 [T/C] exm2261566 3 96472739 [T/C] exm332040 3 96533846 [A/C] NM_001080448 EPHA6 EXON Missense_N127H exm332042 3 96706208 [C/G] NM_001080448 EPHA6 EXON Missense_R162T exm332043 3 96706285 [T/C] NM_001080448 EPHA6 EXON Missense_R188C exm332058 3 96706636 [A/G] NM_001080448 EPHA6 EXON Missense_V305I exm2269649 3 96929437 [T/C] NM_001080448 EPHA6 Silent exm332086 3 97185266 [T/G] NM_001080448,NM_173655 EPHA6,EPHA6 EXON Silent,Missense_S4A exm332089 3 97194205 [T/G] NM_001080448,NM_173655 EPHA6,EPHA6 EXON Missense_M635R,Missense_M27R exm332099 3 97202829 [A/C] NM_001080448,NM_173655 EPHA6,EPHA6 EXON Missense_P709Q,Missense_P101Q exm332100 3 97202832 [T/C] NM_001080448,NM_173655 EPHA6,EPHA6 EXON Missense_S710F,Missense_S102F exm332105 3 97251297 [T/C] NM_001080448,NM_173655 EPHA6,EPHA6 EXON Missense_R766W,Missense_R158W exm-rs2317212 3 97328284 [T/G] NM_001080448,NM_173655 EPHA6,EPHA6 Silent,Silent exm332124 3 97367134 [T/C] NM_001080448,NM_173655 EPHA6,EPHA6 EXON Silent,Missense_L322P exm332128 3 97439178 [T/C] NM_001080448 EPHA6 EXON Missense_A953V exm332137 3 97454920 [A/G] NM_001080448 EPHA6 EXON Missense_R1029Q exm2269492 3 97462795 [T/C] NM_001080448 EPHA6 Silent exm332144 3 97466388 [T/C] NM_001080448 EPHA6 EXON Missense_F1084L exm332145 3 97467457 [T/A] NM_001080448 EPHA6 EXON Missense_L1102H exm332167 3 97506926 [T/G] NM_032146,NM_177976 ARL6,ARL6 EXON Missense_C148G,Missense_C148G exm332170 3 97510628 [A/G] NM_032146,NM_177976 ARL6,ARL6 EXON Missense_I165V,Missense_I165V exm332285 3 97664725 [T/C] NM_001042533,NM_001261829,NM_032778,NM_153182 MINA,MINA,MINA,MINA EXON Missense_A386T,Missense_A385T,Missense_A385T,Missense_A386T exm2061657 3 97666281 [A/G] NM_001042533,NM_001261829,NM_032778,NM_153182 MINA,MINA,MINA,MINA EXON Missense_P358L,Missense_P357L,Missense_P357L,Missense_P358L exm332296 3 97668721 [A/G] NM_001042533,NM_001261829,NM_032778,NM_153182 MINA,MINA,MINA,MINA EXON Missense_S343P,Missense_S342P,Missense_S342P,Missense_S343P exm332304 3 97668796 [A/G] NM_001042533,NM_001261829,NM_032778,NM_153182 MINA,MINA,MINA,MINA EXON Missense_R318W,Missense_R317W,Missense_R317W,Missense_R318W exm332308 3 97669668 [T/C] NM_001042533,NM_001261829,NM_032778,NM_153182 MINA,MINA,MINA,MINA EXON Missense_V284M,Missense_V284M,Missense_V284M,Missense_V284M exm332310 3 97669710 [T/C] NM_001042533,NM_001261829,NM_032778,NM_153182 MINA,MINA,MINA,MINA EXON Missense_D270N,Missense_D270N,Missense_D270N,Missense_D270N exm332311 3 97673261 [T/C] NM_001042533,NM_001261829,NM_032778,NM_153182 MINA,MINA,MINA,MINA EXON Missense_V254M,Missense_V254M,Missense_V254M,Missense_V254M exm332318 3 97677897 [T/G] NM_001042533,NM_001261829,NM_032778,NM_153182 MINA,MINA,MINA,MINA EXON Missense_K227Q,Missense_K227Q,Missense_K227Q,Missense_K227Q exm332321 3 97677933 [T/C] NM_001042533,NM_001261829,NM_032778,NM_153182 MINA,MINA,MINA,MINA EXON Missense_E215K,Missense_E215K,Missense_E215K,Missense_E215K exm332325 3 97677974 [A/G] NM_001042533,NM_001261829,NM_032778,NM_153182 MINA,MINA,MINA,MINA EXON Missense_P201L,Missense_P201L,Missense_P201L,Missense_P201L exm332342 3 97680522 [C/G] NM_001042533,NM_001261829,NM_032778,NM_153182 MINA,MINA,MINA,MINA EXON Missense_E155Q,Missense_E155Q,Missense_E155Q,Missense_E155Q exm332346 3 97686019 [A/G] NM_001042533,NM_001261829,NM_032778,NM_153182 MINA,MINA,MINA,MINA EXON Missense_P140L,Missense_P140L,Missense_P140L,Missense_P140L exm332352 3 97686157 [A/C] NM_001042533,NM_001261829,NM_032778,NM_153182 MINA,MINA,MINA,MINA EXON Missense_M94R,Missense_M94R,Missense_M94R,Missense_M94R exm332358 3 97686251 [G/C] NM_001042533,NM_001261829,NM_032778,NM_153182 MINA,MINA,MINA,MINA EXON Missense_P63A,Missense_P63A,Missense_P63A,Missense_P63A exm332361 3 97686389 [C/G] NM_001042533,NM_001261829,NM_032778,NM_153182 MINA,MINA,MINA,MINA EXON Missense_A17P,Missense_A17P,Missense_A17P,Missense_A17P exm332369 3 97705793 [T/C] NR_047685,NM_001105580 GABRR3,GABRR3 EXON Silent,Missense_A380T exm332371 3 97711701 [T/C] NR_047685,NM_001105580 GABRR3,GABRR3 EXON Silent,Missense_G367R exm332373 3 97711722 [A/G] NR_047685,NM_001105580 GABRR3,GABRR3 EXON Silent,Missense_R360W exm332380 3 97726626 [A/C] NR_047685,NM_001105580 GABRR3,GABRR3 EXON Silent,Missense_A246S exm332382 3 97726647 [A/G] NR_047685,NM_001105580 GABRR3,GABRR3 EXON Silent,Missense_F239L exm332387 3 97726747 [T/A] NR_047685,NM_001105580 GABRR3,GABRR3 EXON Silent,Missense_X205Y exm332388 3 97727827 [A/G] NR_047685,NM_001105580 GABRR3,GABRR3 EXON Silent,Nonsense_Q196X exm332392 3 97727871 [A/G] NR_047685,NM_001105580 GABRR3,GABRR3 EXON Silent,Missense_S181L exm332394 3 97731225 [A/G] NR_047685,NM_001105580 GABRR3,GABRR3 EXON Silent,Missense_R165C exm2265478 3 97741821 [A/G] NR_047685,NM_001105580 GABRR3,GABRR3 Silent,Silent exm332404 3 97744411 [T/C] NR_047685,NM_001105580 GABRR3,GABRR3 EXON Silent,Missense_G80R exm332406 3 97744432 [A/C] NR_047685,NM_001105580 GABRR3,GABRR3 EXON Silent,Missense_A73S exm332408 3 97744479 [A/C] NR_047685,NM_001105580 GABRR3,GABRR3 EXON Silent,Missense_R57L exm332419 3 97806175 [A/C] NM_054106 OR5AC2 EXON Missense_N53K exm2275683 3 97806216 [A/G] NM_054106 OR5AC2 EXON Missense_G67D exm332425 3 97806305 [C/G] NM_054106 OR5AC2 EXON Missense_A97P exm332435 3 97806451 [T/G] NM_054106 OR5AC2 EXON Missense_Q145H exm332448 3 97806616 [A/G] NM_054106 OR5AC2 EXON Missense_M200I exm332452 3 97806683 [A/G] NM_054106 OR5AC2 EXON Missense_V223M exm332465 3 97806893 [A/C] NM_054106 OR5AC2 EXON Missense_S293R exm332467 3 97806936 [T/C] NM_054106 OR5AC2 EXON Missense_I307T exm332468 3 97806944 [T/C] NM_054106 OR5AC2 EXON Missense_X310Q exm332516 3 97852211 [A/G] NM_001005338 OR5H1 EXON Missense_A224T exm2061741 3 97852274 [T/C] NM_001005338 OR5H1 EXON Missense_L245F exm332526 3 97852317 [A/G] NM_001005338 OR5H1 EXON Missense_Y259C exm332551 3 97868422 [A/G] NM_001005514 OR5H14 EXON Missense_N65D exm332555 3 97868477 [A/T] NM_001005514 OR5H14 EXON Missense_I83N exm332604 3 97868883 [A/C] NM_001005514 OR5H14 EXON Nonsense_Y218X exm332606 3 97868931 [A/G] NM_001005514 OR5H14 EXON Missense_M234I exm332617 3 97869026 [A/G] NM_001005514 OR5H14 EXON Missense_Q266R exm332649 3 97887833 [A/G] NM_001005515 OR5H15 EXON Missense_C97Y exm332656 3 97887874 [A/G] NM_001005515 OR5H15 EXON Missense_E111K exm332668 3 97888000 [A/C] NM_001005515 OR5H15 EXON Missense_I153L exm332673 3 97888177 [A/G] NM_001005515 OR5H15 EXON Missense_V212M exm332684 3 97888324 [A/G] NM_001005515 OR5H15 EXON Missense_G261S exm332708 3 97983231 [T/C] NM_001005479 OR5H6 EXON Missense_H35Y exm332710 3 97983253 [T/C] NM_001005479 OR5H6 EXON Missense_P42L exm332712 3 97983265 [A/C] NM_001005479 OR5H6 EXON Missense_A46E exm332730 3 97983495 [A/C] NM_001005479 OR5H6 EXON Missense_T123P exm332762 3 97983839 [C/G] NM_001005479 OR5H6 EXON Missense_I237M exm332770 3 97983942 [A/G] NM_001005479 OR5H6 EXON Missense_T272A exm332773 3 97983981 [A/G] NM_001005479 OR5H6 EXON Missense_D285N exm332781 3 98001736 [T/C] NM_001005482 OR5H2 EXON Missense_S2L exm332783 3 98001750 [G/C] NM_001005482 OR5H2 EXON Missense_E7Q exm332785 3 98001777 [G/C] NM_001005482 OR5H2 EXON Missense_E16Q exm332789 3 98001858 [A/G] NM_001005482 OR5H2 EXON Missense_T43A exm332791 3 98001874 [T/C] NM_001005482 OR5H2 EXON Missense_L48P exm332806 3 98002188 [T/C] NM_001005482 OR5H2 EXON Missense_S153P exm2240188 3 98002299 [T/G] NM_001005482 OR5H2 EXON Missense_F190V exm332815 3 98002417 [T/C] NM_001005482 OR5H2 EXON Missense_T229I exm332816 3 98002419 [A/G] NM_001005482 OR5H2 EXON Missense_I230V exm332819 3 98002497 [T/C] NM_001005482 OR5H2 EXON Missense_Y256H exm332821 3 98002527 [T/C] NM_001005482 OR5H2 EXON Missense_R266C exm332822 3 98002528 [A/G] NM_001005482 OR5H2 EXON Missense_R266H exm332823 3 98002576 [T/C] NM_001005482 OR5H2 EXON Missense_F282S exm332824 3 98002587 [A/G] NM_001005482 OR5H2 EXON Missense_I286V exm332825 3 98002636 [T/C] NM_001005482 OR5H2 EXON Missense_V302A exm-rs1497546 3 98034526 [A/G] exm332828 3 98072715 [A/C] NM_001005517 OR5K4 EXON Missense_H6Q exm332834 3 98072756 [A/T] NM_001005517 OR5K4 EXON Missense_Y20F exm332840 3 98072852 [A/C] NM_001005517 OR5K4 EXON Missense_E52A exm332841 3 98072855 [A/G] NM_001005517 OR5K4 EXON Missense_R53H exm2061861 3 98072878 [A/G] NM_001005517 OR5K4 EXON Missense_I61V exm2240192 3 98073113 [T/C] NM_001005517 OR5K4 EXON Missense_T139M exm332860 3 98073137 [A/G] NM_001005517 OR5K4 EXON Missense_G147E exm332862 3 98073197 [T/C] NM_001005517 OR5K4 EXON Missense_T167I exm332865 3 98073241 [C/G] NM_001005517 OR5K4 EXON Missense_L182V exm332866 3 98073251 [A/G] NM_001005517 OR5K4 EXON Missense_Y185C exm332868 3 98073313 [A/G] NM_001005517 OR5K4 EXON Missense_I206V exm332872 3 98073382 [A/G] NM_001005517 OR5K4 EXON Missense_K229E exm332876 3 98073421 [T/G] NM_001005517 OR5K4 EXON Missense_A242S exm332877 3 98073527 [T/C] NM_001005517 OR5K4 EXON Missense_I277T exm332879 3 98073574 [A/G] NM_001005517 OR5K4 EXON Missense_E293K exm332883 3 98073637 [A/G] NM_001005517 OR5K4 EXON Missense_I314V exm2061878 3 98109510 [A/C] NM_001005516 OR5K3 EXON Missense_M1L exm332889 3 98109529 [T/C] NM_001005516 OR5K3 EXON Missense_S7F exm332890 3 98109573 [A/C] NM_001005516 OR5K3 EXON Missense_K22Q exm332892 3 98109616 [T/C] NM_001005516 OR5K3 EXON Missense_L36P exm332894 3 98109640 [A/G] NM_001005516 OR5K3 EXON Missense_G44D exm332896 3 98109669 [A/C] NM_001005516 OR5K3 EXON Missense_R54S exm332898 3 98109709 [T/C] NM_001005516 OR5K3 EXON Missense_V67A exm332912 3 98109990 [C/G] NM_001005516 OR5K3 EXON Missense_E161Q exm332915 3 98110038 [T/C] NM_001005516 OR5K3 EXON Missense_F177L exm332923 3 98110287 [T/C] NM_001005516 OR5K3 EXON Missense_P260S exm332925 3 98110303 [A/C] NM_001005516 OR5K3 EXON Missense_E265A exm332927 3 98110363 [T/C] NM_001005516 OR5K3 EXON Missense_P285L exm2261568 3 98169442 [A/G] exm332936 3 98188485 [A/G] NM_001004736 OR5K1 EXON Missense_E22G exm2061896 3 98189012 [G/C] NM_001004736 OR5K1 EXON Missense_V198L exm332973 3 98189028 [A/C] NM_001004736 OR5K1 EXON Nonsense_S203X exm332977 3 98189157 [T/C] NM_001004736 OR5K1 EXON Missense_L246S exm332985 3 98189265 [T/C] NM_001004736 OR5K1 EXON Missense_V282A exm333009 3 98217042 [A/C] NM_001004737 OR5K2 EXON Missense_H173P exm333011 3 98217050 [A/C] NM_001004737 OR5K2 EXON Missense_H176N exm333023 3 98217261 [A/C] NM_001004737 OR5K2 EXON Nonsense_S246X exm333025 3 98217368 [C/G] NM_001004737 OR5K2 EXON Missense_V282L exm333032 3 98235513 [T/C] NM_001040200,NM_001040199,NM_001040181,NM_019895,NM_001040182,NM_001040183 CLDND1,CLDND1,CLDND1,CLDND1,CLDND1,CLDND1 EXON Missense_R156H,Missense_R251H,Missense_R251H,Missense_R251H,Missense_R274H,Missense_R251H exm333034 3 98235553 [A/G] NM_001040200,NM_001040199,NM_001040181,NM_019895,NM_001040182,NM_001040183 CLDND1,CLDND1,CLDND1,CLDND1,CLDND1,CLDND1 EXON Missense_H143Y,Missense_H238Y,Missense_H238Y,Missense_H238Y,Missense_H261Y,Missense_H238Y exm333042 3 98235681 [A/G] NM_001040200,NM_001040199,NM_001040181,NM_019895,NM_001040182,NM_001040183 CLDND1,CLDND1,CLDND1,CLDND1,CLDND1,CLDND1 EXON Missense_I100T,Missense_I195T,Missense_I195T,Missense_I195T,Missense_I218T,Missense_I195T exm333044 3 98235898 [C/G] NM_001040200,NM_001040199,NM_001040181,NM_019895,NM_001040182,NM_001040183 CLDND1,CLDND1,CLDND1,CLDND1,CLDND1,CLDND1 EXON Missense_A85G,Missense_A180G,Missense_A180G,Missense_A180G,Missense_A203G,Missense_A180G exm333054 3 98237741 [G/C] NM_001040200,NM_001040199,NM_001040181,NM_019895,NM_001040182,NM_001040183 CLDND1,CLDND1,CLDND1,CLDND1,CLDND1,CLDND1 EXON Missense_L36V,Missense_L131V,Missense_L131V,Missense_L131V,Missense_L154V,Missense_L131V exm333055 3 98237750 [T/C] NM_001040200,NM_001040199,NM_001040181,NM_019895,NM_001040182,NM_001040183 CLDND1,CLDND1,CLDND1,CLDND1,CLDND1,CLDND1 EXON Missense_G33R,Missense_G128R,Missense_G128R,Missense_G128R,Missense_G151R,Missense_G128R exm333056 3 98237781 [A/C] NM_001040200,NM_001040199,NM_001040181,NM_019895,NM_001040182,NM_001040183 CLDND1,CLDND1,CLDND1,CLDND1,CLDND1,CLDND1 EXON Missense_E22D,Missense_E117D,Missense_E117D,Missense_E117D,Missense_E140D,Missense_E117D exm2061923 3 98240501 [T/G] NM_001040200,NM_001040199,NM_001040181,NM_019895,NM_001040182,NM_001040183 CLDND1,CLDND1,CLDND1,CLDND1,CLDND1,CLDND1 EXON Silent,Silent,Silent,Silent,Missense_S16Y,Silent exm333063 3 98240528 [A/T] NM_001040200,NM_001040199,NM_001040181,NM_019895,NM_001040182,NM_001040183 CLDND1,CLDND1,CLDND1,CLDND1,CLDND1,CLDND1 EXON Silent,Silent,Silent,Silent,Missense_E7V,Silent exm333077 3 98250986 [T/C] NM_005290 GPR15 EXON Missense_P37S exm333080 3 98251038 [T/G] NM_005290 GPR15 EXON Missense_L54R exm333082 3 98251064 [A/G] NM_005290 GPR15 EXON Missense_G63S exm333083 3 98251071 [A/G] NM_005290 GPR15 EXON Missense_R65Q exm2256231 3 98251108 [A/C] NM_005290 GPR15 EXON Synonymous_A77A exm333093 3 98251211 [A/G] NM_005290 GPR15 EXON Missense_M112V exm333095 3 98251220 [A/G] NM_005290 GPR15 EXON Missense_V115I exm333098 3 98251272 [A/C] NM_005290 GPR15 EXON Missense_Y132S exm333099 3 98251277 [A/G] NM_005290 GPR15 EXON Missense_A134T exm333101 3 98251352 [T/A] NM_005290 GPR15 EXON Missense_F159I exm333106 3 98251487 [T/A] NM_005290 GPR15 EXON Missense_F204I exm333114 3 98251685 [T/C] NM_005290 GPR15 EXON Missense_R270W exm2061933 3 98251793 [A/G] NM_005290 GPR15 EXON Missense_D306N exm2269493 3 98267289 [T/C] exm333124 3 98299553 [A/G] NM_000097 CPOX EXON Missense_R447C exm333128 3 98300318 [T/C] NM_000097 CPOX EXON Missense_K404E exm333130 3 98300354 [A/C] NM_000097 CPOX EXON Missense_Y392D exm333137 3 98304403 [A/G] NM_000097 CPOX EXON Missense_R352C exm333142 3 98307630 [T/C] NM_000097 CPOX EXON Missense_V294I exm333143 3 98307632 [A/G] NM_000097 CPOX EXON Missense_A293V exm333145 3 98307696 [T/G] NM_000097 CPOX EXON Missense_N272H exm333152 3 98309571 [T/C] NM_000097 CPOX EXON Missense_C239Y exm333160 3 98311829 [T/C] NM_000097 CPOX EXON Missense_A174T exm333163 3 98311954 [A/G] NM_000097 CPOX EXON Missense_A132V exm333169 3 98312065 [T/C] NM_000097 CPOX EXON Missense_H95R exm333179 3 98487361 [T/C] NM_001271147,NM_001271142,NM_001271148,NM_001271146,NM_001271145,NM_006100 ST3GAL6,ST3GAL6,ST3GAL6,ST3GAL6,ST3GAL6,ST3GAL6 EXON Silent,Silent,Silent,Missense_T26M,Missense_T79M,Missense_T26M exm333195 3 98492821 [A/T] NM_001271147,NM_001271142,NM_001271148,NM_001271146,NM_001271145,NM_006100 ST3GAL6,ST3GAL6,ST3GAL6,ST3GAL6,ST3GAL6,ST3GAL6 EXON Missense_F24Y,Missense_F24Y,Silent,Missense_F110Y,Missense_F163Y,Missense_F110Y exm2061991 3 98506938 [T/C] NM_001271147,NM_001271142,NM_001271148,NM_001271146,NM_001271145,NM_006100 ST3GAL6,ST3GAL6,ST3GAL6,ST3GAL6,ST3GAL6,ST3GAL6 EXON Nonsense_R46X,Nonsense_R78X,Nonsense_R20X,Nonsense_R164X,Nonsense_R217X,Nonsense_R164X exm333204 3 98507032 [A/G] NM_001271147,NM_001271142,NM_001271148,NM_001271146,NM_001271145,NM_006100 ST3GAL6,ST3GAL6,ST3GAL6,ST3GAL6,ST3GAL6,ST3GAL6 EXON Missense_R77K,Missense_R109K,Missense_R51K,Missense_R195K,Missense_R248K,Missense_R195K exm333205 3 98507043 [A/G] NM_001271147,NM_001271142,NM_001271148,NM_001271146,NM_001271145,NM_006100 ST3GAL6,ST3GAL6,ST3GAL6,ST3GAL6,ST3GAL6,ST3GAL6 EXON Missense_E81K,Missense_E113K,Missense_E55K,Missense_E199K,Missense_E252K,Missense_E199K exm333221 3 98512540 [A/G] NM_001271147,NM_001271142,NM_001271148,NM_001271146,NM_001271145,NM_006100 ST3GAL6,ST3GAL6,ST3GAL6,ST3GAL6,ST3GAL6,ST3GAL6 EXON Missense_A193T,Missense_A225T,Missense_A167T,Missense_A311T,Missense_A364T,Missense_A311T exm333223 3 98512576 [A/C] NM_001271147,NM_001271142,NM_001271148,NM_001271146,NM_001271145,NM_006100 ST3GAL6,ST3GAL6,ST3GAL6,ST3GAL6,ST3GAL6,ST3GAL6 EXON Missense_N205H,Missense_N237H,Missense_N179H,Missense_N323H,Missense_N376H,Missense_N323H exm333231 3 98518223 [T/A] NM_080927 DCBLD2 EXON Missense_I774N exm333239 3 98518346 [T/C] NM_080927 DCBLD2 EXON Missense_D733G exm333240 3 98518359 [T/G] NM_080927 DCBLD2 EXON Missense_Q729K exm333242 3 98518377 [T/C] NM_080927 DCBLD2 EXON Missense_D723N exm333247 3 98518479 [A/G] NM_080927 DCBLD2 EXON Missense_P689S exm333252 3 98518530 [T/C] NM_080927 DCBLD2 EXON Missense_I672V exm333264 3 98520449 [T/C] NM_080927 DCBLD2 EXON Missense_R572Q exm333269 3 98526982 [A/G] NM_080927 DCBLD2 EXON Missense_V538A exm333278 3 98530317 [T/G] NM_080927 DCBLD2 EXON Missense_A482D exm333279 3 98530329 [A/G] NM_080927 DCBLD2 EXON Missense_P478L exm333285 3 98536663 [T/C] NM_080927 DCBLD2 EXON Missense_D388N exm333289 3 98538066 [T/C] NM_080927 DCBLD2 EXON Missense_N356S exm333290 3 98538112 [T/C] NM_080927 DCBLD2 EXON Missense_A341T exm333300 3 98541076 [G/C] NM_080927 DCBLD2 EXON Missense_V276L exm333306 3 98541118 [T/C] NM_080927 DCBLD2 EXON Missense_I262V exm333313 3 98568332 [T/C] NM_080927 DCBLD2 EXON Missense_A182T exm333314 3 98568388 [T/C] NM_080927 DCBLD2 EXON Missense_N163S exm333315 3 98600385 [T/C] NM_080927 DCBLD2 EXON Missense_I144M exm333328 3 98620032 [T/C] NM_080927 DCBLD2 EXON Missense_M47V exm2265479 3 98697729 [A/G] exm-rs13070584 3 99266337 [T/C] exm-rs13095226 3 99396272 [T/C] NR_031662,NM_020351,NM_001850 MIR548G,COL8A1,COL8A1 Silent,Silent,Silent exm2269494 3 99442809 [T/C] NR_031662,NM_020351,NM_001850 MIR548G,COL8A1,COL8A1 Silent,Silent,Silent exm-rs13081855 3 99481539 [T/G] NR_031662,NM_020351,NM_001850 MIR548G,COL8A1,COL8A1 Silent,Silent,Silent exm333342 3 99509683 [T/C] NR_031662,NM_020351,NM_001850 MIR548G,COL8A1,COL8A1 EXON Silent,Missense_P53S,Missense_P53S exm333348 3 99509813 [T/C] NR_031662,NM_020351,NM_001850 MIR548G,COL8A1,COL8A1 EXON Silent,Missense_A96V,Missense_A96V exm333349 3 99509830 [A/G] NR_031662,NM_020351,NM_001850 MIR548G,COL8A1,COL8A1 EXON Silent,Missense_E102K,Missense_E102K exm333350 3 99509836 [A/G] NR_031662,NM_020351,NM_001850 MIR548G,COL8A1,COL8A1 EXON Silent,Missense_V104I,Missense_V104I exm333359 3 99513419 [A/G] NR_031662,NM_020351,NM_001850 MIR548G,COL8A1,COL8A1 EXON Silent,Missense_R225Q,Missense_R225Q exm333361 3 99513455 [A/G] NR_031662,NM_020351,NM_001850 MIR548G,COL8A1,COL8A1 EXON Silent,Missense_R237Q,Missense_R237Q exm333364 3 99513493 [A/G] NR_031662,NM_020351,NM_001850 MIR548G,COL8A1,COL8A1 EXON Silent,Missense_A250T,Missense_A250T exm333365 3 99513494 [T/C] NR_031662,NM_020351,NM_001850 MIR548G,COL8A1,COL8A1 EXON Silent,Missense_A250V,Missense_A250V exm333383 3 99513830 [A/G] NR_031662,NM_020351,NM_001850 MIR548G,COL8A1,COL8A1 EXON Silent,Missense_R362Q,Missense_R362Q exm2062149 3 99513973 [T/C] NR_031662,NM_020351,NM_001850 MIR548G,COL8A1,COL8A1 EXON Silent,Missense_P410S,Missense_P410S exm2256235 3 99514530 [A/G] NR_031662,NM_020351,NM_001850 MIR548G,COL8A1,COL8A1 EXON Silent,Synonymous_V595V,Synonymous_V595V exm333425 3 99514789 [A/G] NR_031662,NM_020351,NM_001850 MIR548G,COL8A1,COL8A1 EXON Silent,Missense_N682D,Missense_N682D exm333429 3 99514829 [A/G] NR_031662,NM_020351,NM_001850 MIR548G,COL8A1,COL8A1 EXON Silent,Missense_G695D,Missense_G695D exm2273950 3 99514883 [A/G] NR_031662,NM_020351,NM_001850 MIR548G,COL8A1,COL8A1 EXON Silent,Missense_R713Q,Missense_R713Q exm333462 3 99567275 [T/C] NR_031662,NM_032359,NM_182909,NM_014890,NM_001042459 MIR548G,CMSS1,FILIP1L,FILIP1L,FILIP1L EXON Silent,Silent,Missense_S1082N,Missense_S842N,Missense_S1082N exm2240207 3 99567870 [G/C] NR_031662,NM_032359,NM_182909,NM_014890,NM_001042459 MIR548G,CMSS1,FILIP1L,FILIP1L,FILIP1L EXON Silent,Silent,Missense_A884P,Missense_A644P,Missense_A884P exm333494 3 99567990 [T/C] NR_031662,NM_032359,NM_182909,NM_014890,NM_001042459 MIR548G,CMSS1,FILIP1L,FILIP1L,FILIP1L EXON Silent,Silent,Missense_V844M,Missense_V604M,Missense_V844M exm333498 3 99568074 [T/C] NR_031662,NM_032359,NM_182909,NM_014890,NM_001042459 MIR548G,CMSS1,FILIP1L,FILIP1L,FILIP1L EXON Silent,Silent,Missense_I816V,Missense_I576V,Missense_I816V exm333503 3 99568239 [G/C] NR_031662,NM_032359,NM_182909,NM_014890,NM_001042459 MIR548G,CMSS1,FILIP1L,FILIP1L,FILIP1L EXON Silent,Silent,Missense_G761R,Missense_G521R,Missense_G761R exm333506 3 99568332 [A/T] NR_031662,NM_032359,NM_182909,NM_014890,NM_001042459 MIR548G,CMSS1,FILIP1L,FILIP1L,FILIP1L EXON Silent,Silent,Missense_M730L,Missense_M490L,Missense_M730L exm333507 3 99568394 [T/G] NR_031662,NM_032359,NM_182909,NM_014890,NM_001042459 MIR548G,CMSS1,FILIP1L,FILIP1L,FILIP1L EXON Silent,Silent,Missense_E709A,Missense_E469A,Missense_E709A exm333508 3 99568437 [T/C] NR_031662,NM_032359,NM_182909,NM_014890,NM_001042459 MIR548G,CMSS1,FILIP1L,FILIP1L,FILIP1L EXON Silent,Silent,Missense_T695A,Missense_T455A,Missense_T695A exm333511 3 99568538 [T/C] NR_031662,NM_032359,NM_182909,NM_014890,NM_001042459 MIR548G,CMSS1,FILIP1L,FILIP1L,FILIP1L EXON Silent,Silent,Missense_R661Q,Missense_R421Q,Missense_R661Q exm333515 3 99568634 [C/G] NR_031662,NM_032359,NM_182909,NM_014890,NM_001042459 MIR548G,CMSS1,FILIP1L,FILIP1L,FILIP1L EXON Silent,Silent,Missense_S629C,Missense_S389C,Missense_S629C exm333522 3 99568791 [T/G] NR_031662,NM_032359,NM_182909,NM_014890,NM_001042459 MIR548G,CMSS1,FILIP1L,FILIP1L,FILIP1L EXON Silent,Silent,Missense_K577Q,Missense_K337Q,Missense_K577Q exm333528 3 99568956 [A/C] NR_031662,NM_032359,NM_182909,NM_014890,NM_001042459 MIR548G,CMSS1,FILIP1L,FILIP1L,FILIP1L EXON Silent,Silent,Missense_S522A,Missense_S282A,Missense_S522A exm2062190 3 99569094 [T/C] NR_031662,NM_032359,NM_182909,NM_014890,NM_001042459 MIR548G,CMSS1,FILIP1L,FILIP1L,FILIP1L EXON Silent,Silent,Missense_E476K,Missense_E236K,Missense_E476K exm333533 3 99569321 [T/C] NR_031662,NM_032359,NM_182909,NM_014890,NM_001042459 MIR548G,CMSS1,FILIP1L,FILIP1L,FILIP1L EXON Silent,Silent,Missense_N400S,Missense_N160S,Missense_N400S exm2240208 3 99569558 [T/C] NR_031662,NM_032359,NM_182909,NM_014890,NM_001042459 MIR548G,CMSS1,FILIP1L,FILIP1L,FILIP1L EXON Silent,Silent,Missense_R321H,Missense_R81H,Missense_R321H exm333545 3 99569599 [T/G] NR_031662,NM_032359,NM_182909,NM_014890,NM_001042459 MIR548G,CMSS1,FILIP1L,FILIP1L,FILIP1L EXON Silent,Silent,Missense_D307E,Missense_D67E,Missense_D307E exm333547 3 99569618 [T/A] NR_031662,NM_032359,NM_182909,NM_014890,NM_001042459 MIR548G,CMSS1,FILIP1L,FILIP1L,FILIP1L EXON Silent,Silent,Missense_K301M,Missense_K61M,Missense_K301M exm333554 3 99569847 [T/C] NR_031662,NM_032359,NM_182909,NM_014890,NM_001042459 MIR548G,CMSS1,FILIP1L,FILIP1L,FILIP1L EXON Silent,Silent,Missense_V225I,Silent,Missense_V225I exm333555 3 99569880 [G/C] NR_031662,NM_032359,NM_182909,NM_014890,NM_001042459 MIR548G,CMSS1,FILIP1L,FILIP1L,FILIP1L EXON Silent,Silent,Missense_Q214E,Silent,Missense_Q214E exm333560 3 99643132 [T/C] NR_031662,NM_032359,NM_182909,NM_001042459 MIR548G,CMSS1,FILIP1L,FILIP1L EXON Silent,Silent,Missense_K183E,Missense_K183E exm333564 3 99643176 [T/C] NR_031662,NM_032359,NM_182909,NM_001042459 MIR548G,CMSS1,FILIP1L,FILIP1L EXON Silent,Silent,Missense_R168H,Missense_R168H exm333580 3 99649815 [A/G] NR_031662,NM_032359,NM_182909,NM_001042459 MIR548G,CMSS1,FILIP1L,FILIP1L EXON Silent,Silent,Missense_P17L,Missense_P17L exm333581 3 99649840 [T/C] NR_031662,NM_032359,NM_182909,NM_001042459 MIR548G,CMSS1,FILIP1L,FILIP1L EXON Silent,Silent,Missense_E9K,Missense_E9K exm333585 3 99649860 [T/C] NR_031662,NM_032359,NM_182909,NM_001042459 MIR548G,CMSS1,FILIP1L,FILIP1L EXON Silent,Silent,Missense_R2H,Missense_R2H exm333594 3 99881173 [A/T] NM_032359,NM_001167924 CMSS1,CMSS1 EXON Missense_K84N,Missense_K66N exm333598 3 99881240 [T/C] NM_032359,NM_001167924 CMSS1,CMSS1 EXON Missense_R107C,Missense_R89C exm2240219 3 99881270 [A/C] NM_032359,NM_001167924 CMSS1,CMSS1 EXON Missense_L117M,Missense_L99M exm333600 3 99885200 [A/G] NM_032359,NM_001167924 CMSS1,CMSS1 EXON Missense_N126S,Missense_N108S exm333602 3 99885236 [A/G] NM_032359,NM_001167924 CMSS1,CMSS1 EXON Missense_E138G,Missense_E120G exm333608 3 99886662 [A/G] NM_032359,NM_001167924 CMSS1,CMSS1 EXON Missense_V166I,Missense_V148I exm333619 3 99895251 [A/C] NM_032359,NM_001167924 CMSS1,CMSS1 EXON Missense_I250L,Missense_I232L exm333620 3 99897158 [A/G] NM_032359,NM_001167924 CMSS1,CMSS1 EXON Missense_E256K,Missense_E238K exm333625 3 99979884 [C/G] NM_018309,NM_001199198 TBC1D23,TBC1D23 EXON Missense_P8A,Missense_P8A exm333632 3 99998531 [C/G] NM_018309,NM_001199198 TBC1D23,TBC1D23 EXON Missense_C31S,Missense_C31S exm333634 3 99998558 [T/C] NM_018309,NM_001199198 TBC1D23,TBC1D23 EXON Missense_I40T,Missense_I40T exm333654 3 100002633 [A/G] NM_018309,NM_001199198 TBC1D23,TBC1D23 EXON Missense_I152V,Missense_I152V exm333655 3 100002639 [A/C] NM_018309,NM_001199198 TBC1D23,TBC1D23 EXON Missense_N154H,Missense_N154H exm2265480 3 100004117 [A/G] NM_018309,NM_001199198 TBC1D23,TBC1D23 Silent,Silent exm333660 3 100013931 [T/C] NM_018309,NM_001199198 TBC1D23,TBC1D23 EXON Missense_L201F,Missense_L201F exm333664 3 100014146 [A/G] NM_018309,NM_001199198 TBC1D23,TBC1D23 EXON Synonymous_K242K,Synonymous_K242K exm333686 3 100023712 [T/C] NM_018309,NM_001199198 TBC1D23,TBC1D23 EXON Missense_I429T,Missense_I429T exm333687 3 100023731 [A/G] NM_018309,NM_001199198 TBC1D23,TBC1D23 EXON Missense_M435I,Missense_M435I exm333695 3 100029301 [A/G] NM_018309,NM_001199198 TBC1D23,TBC1D23 EXON Missense_M490V,Missense_M490V exm333709 3 100039665 [T/A] NM_018309,NM_001199198 TBC1D23,TBC1D23 EXON Missense_I608N,Missense_I623N exm333719 3 100053639 [A/G] NM_020202 NIT2 EXON Missense_T2A exm333729 3 100057993 [A/G] NM_020202 NIT2 EXON Missense_A24T exm333730 3 100058008 [T/C] NM_020202 NIT2 EXON Missense_R29W exm333731 3 100058009 [A/G] NM_020202 NIT2 EXON Missense_R29Q exm333739 3 100058733 [G/C] NM_020202 NIT2 EXON Missense_Q67H exm333742 3 100059943 [A/C] NM_020202 NIT2 EXON Missense_K92Q exm2255566 3 100071278 [A/G] NM_020202 NIT2 EXON Synonymous_T205T exm333768 3 100073616 [C/G] NM_020202 NIT2 EXON Missense_W228C exm333771 3 100074059 [A/G] NM_020202 NIT2 EXON Missense_V260I exm333777 3 100084451 [C/G] NM_014820 TOMM70A EXON Missense_T595R exm2264031 3 100085556 [A/C] NM_014820 TOMM70A Silent exm2031620 3 100086948 [A/G] NM_014820 TOMM70A EXON Missense_I538T exm333794 3 100093896 [A/G] NM_014820 TOMM70A EXON Missense_P398L exm333795 3 100093981 [C/G] NM_014820 TOMM70A EXON Missense_L370V exm333800 3 100096697 [T/C] NM_014820 TOMM70A EXON Missense_S315N exm333804 3 100100549 [A/G] NM_014820 TOMM70A EXON Missense_T265M exm2238228 3 100105110 [A/G] NM_014820 TOMM70A EXON Missense_R193C exm333817 3 100119504 [A/C] NM_014820 TOMM70A EXON Missense_G97V exm333832 3 100148679 [T/C] NM_001085451 LNP1 EXON Missense_R36C exm333842 3 100170600 [T/A] NM_001085451 LNP1 EXON Missense_H65L exm333850 3 100170653 [T/C] NM_001085451 LNP1 EXON Missense_R83W exm333851 3 100170715 [T/A] NM_001085451 LNP1 EXON Missense_R103S exm333859 3 100174634 [A/G] NM_001085451 LNP1 EXON Missense_R134K exm333869 3 100274090 [A/C] NM_018004 TMEM45A EXON Missense_T12N exm333873 3 100274161 [T/C] NM_018004 TMEM45A EXON Nonsense_R36X exm333874 3 100274162 [A/G] NM_018004 TMEM45A EXON Missense_R36Q exm333878 3 100275616 [A/G] NM_018004 TMEM45A EXON Missense_E68G exm333885 3 100277341 [A/G] NM_018004 TMEM45A EXON Missense_V166I exm333896 3 100287744 [A/G] NM_018004 TMEM45A EXON Missense_I223V exm333901 3 100295834 [A/G] NM_018004 TMEM45A EXON Missense_R267Q exm333913 3 100328725 [A/C] NM_032787 GPR128 EXON Missense_L9I exm333915 3 100328764 [T/G] NM_032787 GPR128 EXON Missense_G22C exm333938 3 100352109 [T/C] NM_032787 GPR128 EXON Missense_A112V exm333941 3 100352151 [A/G] NM_032787 GPR128 EXON Missense_Y126C exm333944 3 100354524 [A/G] NM_032787 GPR128 EXON Missense_K151E exm333947 3 100354621 [T/C] NM_032787 GPR128 EXON Missense_T183M exm333956 3 100362114 [A/G] NM_032787 GPR128 EXON Missense_I235V exm333967 3 100362431 [C/G] NM_032787 GPR128 EXON Missense_N300K exm333969 3 100364818 [T/C] NM_032787 GPR128 EXON Missense_Y326H exm333971 3 100364833 [G/C] NM_032787 GPR128 EXON Missense_L331V exm333975 3 100364914 [A/G] NM_032787 GPR128 EXON Missense_D358N exm333978 3 100365420 [A/G] NM_032787 GPR128 EXON Missense_Q373R exm2031680 3 100365471 [T/C] NM_032787 GPR128 EXON Missense_A390V exm333984 3 100365491 [A/G] NM_032787 GPR128 EXON Missense_G397S exm2031681 3 100365528 [A/G] NM_032787 GPR128 EXON Missense_R409H exm333987 3 100365533 [T/C] NM_032787 GPR128 EXON Missense_R411C exm333989 3 100368546 [A/G] NM_032787 GPR128 EXON Missense_K425R exm333999 3 100373679 [A/G] NM_032787 GPR128 EXON Synonymous_R460R exm334004 3 100373923 [A/C] NM_032787 GPR128 EXON Missense_T542P exm334014 3 100378648 [T/C] NM_032787 GPR128 EXON Missense_S647L exm334017 3 100378687 [A/G] NM_032787 GPR128 EXON Missense_S660N exm2031696 3 100387906 [A/G] NM_032787 GPR128 EXON Missense_R698K exm334020 3 100387926 [T/C] NM_032787 GPR128 EXON Missense_F705L exm334025 3 100413642 [A/G] NM_032787 GPR128 EXON Missense_A731T exm2031698 3 100413645 [T/G] NM_032787 GPR128 EXON Missense_S732A exm334029 3 100413717 [T/C] NM_032787 GPR128 EXON Missense_R756C exm334030 3 100413718 [A/G] NM_032787 GPR128 EXON Missense_R756H exm334031 3 100413754 [A/C] NM_032787 GPR128 EXON Missense_T768N exm334032 3 100413760 [A/G] NM_032787 GPR128 EXON Missense_H770R exm334053 3 100451393 [T/G] NM_001007565,NM_001195479,NM_006070,NM_001195478 TFG,TFG,TFG,TFG EXON Missense_S153A,Missense_S153A,Missense_S153A,Missense_S153A exm334075 3 100467160 [A/G] NM_001007565,NM_001195479,NM_006070,NM_001195478 TFG,TFG,TFG,TFG EXON Missense_T330A,Missense_T326A,Missense_T330A,Missense_T330A exm334078 3 100467232 [C/G] NM_001007565,NM_001195479,NM_006070,NM_001195478 TFG,TFG,TFG,TFG EXON Missense_P354A,Missense_P350A,Missense_P354A,Missense_P354A exm334080 3 100467262 [A/C] NM_001007565,NM_001195479,NM_006070,NM_001195478 TFG,TFG,TFG,TFG EXON Missense_T364P,Missense_T360P,Missense_T364P,Missense_T364P exm334094 3 100472692 [A/G] NM_015429 ABI3BP EXON Missense_A933V exm334109 3 100494075 [C/G] NM_015429 ABI3BP EXON Missense_V769L exm334110 3 100494090 [T/C] NM_015429 ABI3BP EXON Missense_I764V exm334113 3 100494138 [A/G] NM_015429 ABI3BP EXON Missense_S748P exm334121 3 100511585 [A/G] NM_015429 ABI3BP EXON Missense_P639L exm334123 3 100511595 [T/C] NM_015429 ABI3BP EXON Missense_T636A exm334138 3 100523692 [C/G] NM_015429 ABI3BP EXON Missense_R564P exm334139 3 100523693 [A/G] NM_015429 ABI3BP EXON Missense_R564C exm334142 3 100527031 [T/C] NM_015429 ABI3BP EXON Missense_R549H exm334143 3 100527032 [A/G] NM_015429 ABI3BP EXON Missense_R549C exm334147 3 100565278 [A/G] NM_015429 ABI3BP EXON Missense_T512I exm334152 3 100566500 [T/C] NM_015429 ABI3BP EXON Missense_G490R exm334153 3 100567662 [A/G] NM_015429 ABI3BP EXON Missense_P478L exm334154 3 100567671 [T/C] NM_015429 ABI3BP EXON Missense_R475Q exm334159 3 100567707 [A/G] NM_015429 ABI3BP EXON Missense_T463I exm334160 3 100568897 [A/G] NM_015429 ABI3BP EXON Missense_T456M exm334175 3 100581221 [T/C] NM_015429 ABI3BP EXON Missense_E365K exm334187 3 100585790 [T/A] NM_015429 ABI3BP EXON Missense_E314D exm334188 3 100585792 [T/C] NM_015429 ABI3BP EXON Missense_E314K exm2269495 3 100594640 [T/C] NM_015429 ABI3BP Silent exm334197 3 100604389 [G/C] NM_015429 ABI3BP EXON Missense_D236E exm334199 3 100605006 [T/C] NM_015429 ABI3BP EXON Missense_N215S exm334202 3 100605084 [T/C] NM_015429 ABI3BP EXON Missense_E189G exm334203 3 100605153 [T/C] NM_015429 ABI3BP EXON Missense_R166H exm2261341 3 100612453 [A/C] NM_015429 ABI3BP Silent exm2255568 3 100645207 [A/G] NM_015429 ABI3BP EXON Synonymous_N73N exm334232 3 100712249 [T/C] NM_015429 ABI3BP EXON Missense_M1V exm2265481 3 100793911 [A/G] exm334241 3 100948354 [C/G] NM_016247 IMPG2 EXON Missense_A1168G exm334243 3 100948418 [A/G] NM_016247 IMPG2 EXON Missense_P1147S exm334255 3 100951820 [A/G] NM_016247 IMPG2 EXON Missense_P1013L exm334256 3 100961565 [T/C] NM_016247 IMPG2 EXON Missense_A997T exm334258 3 100961657 [T/C] NM_016247 IMPG2 EXON Missense_K966R exm334271 3 100962651 [T/G] NM_016247 IMPG2 EXON Missense_L842M exm2031854 3 100962744 [A/C] NM_016247 IMPG2 EXON Missense_S811A exm334279 3 100962917 [A/G] NM_016247 IMPG2 EXON Missense_S753L exm334290 3 100963154 [A/G] NM_016247 IMPG2 EXON Missense_T674I exm334305 3 100963593 [T/C] NM_016247 IMPG2 EXON Missense_I528V exm334306 3 100964694 [T/G] NM_016247 IMPG2 EXON Missense_P499T exm2031870 3 100964807 [G/C] NM_016247 IMPG2 EXON Missense_T461R exm2275685 3 100964889 [A/G] NM_016247 IMPG2 EXON Missense_P434S exm334314 3 100964946 [T/C] NM_016247 IMPG2 EXON Missense_N415D exm334318 3 100972556 [A/G] NM_016247 IMPG2 EXON Missense_T408M exm334320 3 100972610 [T/C] NM_016247 IMPG2 EXON Missense_R390H exm334321 3 100976375 [T/C] NM_016247 IMPG2 EXON Missense_N384S exm334327 3 100976613 [T/C] NM_016247 IMPG2 EXON Missense_V305I exm334340 3 100994578 [T/C] NM_016247 IMPG2 EXON Missense_S199G exm334348 3 101010335 [T/G] NM_016247 IMPG2 EXON Missense_E174A exm334354 3 101023121 [A/G] NM_016247 IMPG2 EXON Missense_F124L exm2238245 3 101039159 [T/C] NM_016247 IMPG2 EXON Missense_I20V exm334370 3 101039185 [T/G] NM_016247 IMPG2 EXON Missense_S11Y exm334374 3 101044835 [A/C] NM_001077203,NM_020654 SENP7,SENP7 EXON Missense_E970D,Missense_E1035D exm334376 3 101044893 [T/C] NM_001077203,NM_020654 SENP7,SENP7 EXON Missense_H951R,Missense_H1016R exm334381 3 101047352 [G/C] NM_001077203,NM_020654 SENP7,SENP7 EXON Missense_S880C,Missense_S945C exm334389 3 101049218 [C/G] NM_001077203,NM_020654 SENP7,SENP7 EXON Missense_R839P,Missense_R904P exm334390 3 101050907 [T/C] NM_001077203,NM_020654 SENP7,SENP7 EXON Missense_A809T,Missense_A874T exm334399 3 101060520 [T/C] NM_001077203,NM_020654 SENP7,SENP7 EXON Missense_R672Q,Missense_R737Q exm334400 3 101060536 [A/G] NM_001077203,NM_020654 SENP7,SENP7 EXON Missense_P667S,Missense_P732S exm334404 3 101062671 [A/C] NM_001077203,NM_020654 SENP7,SENP7 EXON Missense_L590F,Missense_L655F exm334406 3 101062717 [A/G] NM_001077203,NM_020654 SENP7,SENP7 EXON Missense_T575M,Missense_T640M exm334407 3 101062727 [A/C] NM_001077203,NM_020654 SENP7,SENP7 EXON Missense_D572Y,Missense_D637Y exm334409 3 101062748 [T/C] NM_001077203,NM_020654 SENP7,SENP7 EXON Missense_R565G,Missense_R630G exm334412 3 101066719 [T/G] NM_001077203,NM_020654 SENP7,SENP7 EXON Missense_Q547K,Missense_Q612K exm334432 3 101085336 [A/G] NM_001077203,NM_020654 SENP7,SENP7 EXON Missense_I354T,Missense_I419T exm334446 3 101086729 [T/C] NM_001077203,NM_020654 SENP7,SENP7 EXON Missense_N243S,Missense_N308S exm334451 3 101090924 [T/A] NM_001077203,NM_020654 SENP7,SENP7 EXON Missense_T177S,Missense_T242S exm334452 3 101090925 [A/C] NM_001077203,NM_020654 SENP7,SENP7 EXON Missense_Q176H,Missense_Q241H exm334454 3 101117713 [T/G] NM_001077203,NM_020654 SENP7,SENP7 EXON Silent,Missense_L223F exm334462 3 101136506 [T/G] NM_001077203,NM_020654 SENP7,SENP7 EXON Missense_T138K,Missense_T138K exm334464 3 101136541 [A/C] NM_001077203,NM_020654 SENP7,SENP7 EXON Missense_D126E,Missense_D126E exm334473 3 101177848 [T/G] NM_001077203,NM_020654 SENP7,SENP7 EXON Missense_K79Q,Missense_K79Q exm-rs3846087 3 101211487 [A/G] NM_001077203,NM_020654 SENP7,SENP7 Silent,Silent exm-rs16843947 3 101238259 [A/G] NR_036433 FAM172BP Silent exm334497 3 101283792 [C/G] NM_017819 TRMT10C EXON Missense_P56R exm2031983 3 101283987 [T/C] NM_017819 TRMT10C EXON Missense_M121T exm334510 3 101284117 [C/G] NM_017819 TRMT10C EXON Missense_K164N exm334511 3 101284119 [A/T] NM_017819 TRMT10C EXON Missense_L165Q exm334512 3 101284167 [T/G] NM_017819 TRMT10C EXON Missense_R181L exm334522 3 101284640 [G/C] NM_017819 TRMT10C EXON Missense_D339H exm334535 3 101293089 [T/G] NM_020357 PCNP EXON Missense_K10N exm334537 3 101293108 [C/G] NM_020357 PCNP EXON Missense_A17P exm334538 3 101298747 [A/G] NM_020357 PCNP EXON Missense_D60N exm2265482 3 101345965 [A/G] exm334549 3 101370015 [T/C] NM_014415 ZBTB11 EXON Missense_E1053K exm334567 3 101371363 [T/C] NM_014415 ZBTB11 EXON Missense_R874K exm334594 3 101383435 [T/C] NM_014415 ZBTB11 EXON Missense_A583T exm334609 3 101384055 [T/C] NM_014415 ZBTB11 EXON Missense_D459G exm334611 3 101384086 [T/A] NM_014415 ZBTB11 EXON Missense_S449C exm334615 3 101384148 [T/C] NM_014415 ZBTB11 EXON Missense_N428S exm334619 3 101384225 [T/C] NM_014415 ZBTB11 EXON Missense_I402M exm334623 3 101384286 [T/C] NM_014415 ZBTB11 EXON Missense_R382Q exm334629 3 101384382 [T/G] NM_014415 ZBTB11 EXON Missense_T350N exm334635 3 101384430 [T/C] NM_014415 ZBTB11 EXON Missense_R334Q exm334643 3 101390043 [C/G] NM_014415 ZBTB11 EXON Missense_E237Q exm334651 3 101391010 [T/G] NM_014415 ZBTB11 EXON Missense_Q120K exm334658 3 101395629 [T/C] NM_014415,NR_024407 ZBTB11,LOC100009676 EXON Missense_G44S,Silent exm334714 3 101443528 [T/G] NM_024548 CEP97 EXON Missense_V3G exm334720 3 101445570 [A/G] NM_024548 CEP97 EXON Missense_R59Q exm334725 3 101446270 [T/C] NM_024548 CEP97 EXON Missense_A77V exm334745 3 101451483 [T/C] NM_024548 CEP97 EXON Missense_I238T exm334752 3 101474398 [A/G] NM_024548 CEP97 EXON Missense_A285T exm334753 3 101474429 [A/G] NM_024548 CEP97 EXON Missense_S295N exm334754 3 101475968 [G/C] NM_024548 CEP97 EXON Missense_V319L exm334765 3 101476645 [T/C] NM_024548 CEP97 EXON Missense_L399F exm334766 3 101476672 [T/G] NM_024548 CEP97 EXON Missense_V408F exm334769 3 101476732 [T/G] NM_024548 CEP97 EXON Missense_L428V exm334772 3 101476817 [T/C] NM_024548 CEP97 EXON Missense_L456S exm334774 3 101476853 [T/G] NM_024548 CEP97 EXON Missense_R468I exm334779 3 101476937 [T/A] NM_024548 CEP97 EXON Missense_D496V exm334783 3 101477036 [T/C] NM_024548 CEP97 EXON Missense_I529T exm334787 3 101477180 [A/G] NM_024548 CEP97 EXON Missense_Y577C exm334788 3 101477203 [T/C] NM_024548 CEP97 EXON Missense_R585C exm334790 3 101477221 [T/C] NM_024548 CEP97 EXON Missense_R591C exm334804 3 101483907 [T/C] NM_024548 CEP97 EXON Missense_H704Y exm334809 3 101484019 [T/G] NM_024548 CEP97 EXON Missense_R741I exm2255571 3 101484092 [T/C] NM_024548 CEP97 EXON Synonymous_N765N exm334819 3 101484270 [T/G] NM_024548 CEP97 EXON Missense_S825A exm334825 3 101484363 [T/C] NM_024548 CEP97 EXON Missense_F856L exm334830 3 101504505 [T/C] NM_145037,NM_001134456 NXPE3,NXPE3 EXON Missense_V22A,Missense_V22A exm334831 3 101504517 [A/G] NM_145037,NM_001134456 NXPE3,NXPE3 EXON Missense_N26S,Missense_N26S exm334834 3 101520167 [C/G] NM_145037,NM_001134456 NXPE3,NXPE3 EXON Missense_P61R,Missense_P61R exm334840 3 101520258 [A/T] NM_145037,NM_001134456 NXPE3,NXPE3 EXON Missense_D91E,Missense_D91E exm334855 3 101520777 [C/G] NM_145037,NM_001134456 NXPE3,NXPE3 EXON Missense_F264L,Missense_F264L exm334865 3 101535731 [T/C] NM_145037,NM_001134456 NXPE3,NXPE3 EXON Missense_R339C,Missense_R339C exm334875 3 101540387 [T/G] NM_145037,NM_001134456 NXPE3,NXPE3 EXON Missense_H423Q,Missense_H423Q exm334878 3 101540407 [A/G] NM_145037,NM_001134456 NXPE3,NXPE3 EXON Missense_N430S,Missense_N430S exm334881 3 101540509 [A/G] NM_145037,NM_001134456 NXPE3,NXPE3 EXON Missense_R464H,Missense_R464H exm334887 3 101540638 [T/C] NM_145037,NM_001134456 NXPE3,NXPE3 EXON Missense_T507I,Missense_T507I exm334889 3 101540697 [A/T] NM_145037,NM_001134456 NXPE3,NXPE3 EXON Missense_T527S,Missense_T527S exm334892 3 101540721 [A/G] NM_145037,NM_001134456 NXPE3,NXPE3 EXON Missense_K535E,Missense_K535E exm334901 3 101570944 [C/G] NM_001005474,NM_031419 NFKBIZ,NFKBIZ EXON Missense_G2A,Missense_G102A exm334906 3 101571733 [T/G] NM_001005474,NM_031419 NFKBIZ,NFKBIZ EXON Missense_L55W,Missense_L155W exm334907 3 101571742 [G/C] NM_001005474,NM_031419 NFKBIZ,NFKBIZ EXON Missense_T58R,Missense_T158R exm334928 3 101572284 [A/G] NM_001005474,NM_031419 NFKBIZ,NFKBIZ EXON Missense_K205R,Missense_K305R exm2238260 3 101572290 [C/G] NM_001005474,NM_031419 NFKBIZ,NFKBIZ EXON Missense_T207S,Missense_T307S exm2273951 3 101572310 [T/C] NM_001005474,NM_031419 NFKBIZ,NFKBIZ EXON Missense_P214S,Missense_P314S exm334930 3 101572317 [G/C] NM_001005474,NM_031419 NFKBIZ,NFKBIZ EXON Missense_P216R,Missense_P316R exm334934 3 101572464 [T/A] NM_001005474,NM_031419 NFKBIZ,NFKBIZ EXON Missense_Q265L,Missense_Q365L exm334938 3 101572538 [A/G] NM_001005474,NM_031419 NFKBIZ,NFKBIZ EXON Missense_M290V,Missense_M390V exm334939 3 101572544 [T/G] NM_001005474,NM_031419 NFKBIZ,NFKBIZ EXON Missense_S292A,Missense_S392A exm334943 3 101572635 [T/G] NM_001005474,NM_031419 NFKBIZ,NFKBIZ EXON Missense_V322G,Missense_V422G exm334948 3 101573934 [A/G] NM_001005474,NM_031419 NFKBIZ,NFKBIZ EXON Missense_N391S,Missense_N491S exm334953 3 101574282 [T/C] NM_001005474,NM_031419 NFKBIZ,NFKBIZ EXON Missense_L445P,Missense_L545P exm2032174 3 101576143 [A/G] NM_001005474,NM_031419 NFKBIZ,NFKBIZ EXON Missense_N548S,Missense_N648S exm2269496 3 101600724 [T/C] exm-rs991258 3 101774043 [C/G] exm2265605 3 101780814 [A/G] exm334983 3 102157365 [T/A] NM_175056 ZPLD1 EXON Missense_I28F exm334984 3 102157378 [T/C] NM_175056 ZPLD1 EXON Missense_P32L exm334985 3 102157417 [A/G] NM_175056 ZPLD1 EXON Missense_N45S exm334992 3 102171826 [T/C] NM_175056 ZPLD1 EXON Missense_T73M exm335011 3 102176697 [T/C] NM_175056 ZPLD1 EXON Synonymous_N210N exm335014 3 102181131 [A/G] NM_175056 ZPLD1 EXON Missense_T213A exm335019 3 102181200 [A/C] NM_175056 ZPLD1 EXON Missense_Q236K exm335023 3 102183071 [A/G] NM_175056 ZPLD1 EXON Missense_D262G exm335040 3 102187979 [A/G] NM_175056 ZPLD1 EXON Synonymous_P327P exm335042 3 102189278 [T/C] NM_175056 ZPLD1 EXON Missense_T341M exm335055 3 102196328 [A/C] NM_175056 ZPLD1 EXON Missense_S388R exm335060 3 102196367 [A/G] NM_175056 ZPLD1 EXON Missense_S401G exm335062 3 102196412 [C/G] NM_175056 ZPLD1 EXON Missense_G416R exm2032231 3 102196440 [T/A] NM_175056 ZPLD1 EXON Missense_I425K exm2269497 3 102240202 [T/C] exm2269498 3 102987771 [T/C] exm2265606 3 103029840 [A/G] exm2255577 3 103777955 [T/C] exm2261344 3 104060810 [T/C] exm2265484 3 104380356 [A/G] exm2265607 3 104570060 [A/G] exm2265485 3 104640080 [A/G] exm-rs952365 3 104981251 [A/G] exm2255584 3 105132008 [T/C] NM_001243281,NM_001243283,NM_001243280,NM_001627 ALCAM,ALCAM,ALCAM,ALCAM Silent,Silent,Silent,Silent exm335082 3 105243209 [T/C] NM_001243281,NM_001243283,NM_001243280,NM_001627 ALCAM,ALCAM,ALCAM,ALCAM EXON Missense_P84L,Missense_P84L,Missense_P84L,Missense_P84L exm335084 3 105243227 [T/C] NM_001243281,NM_001243283,NM_001243280,NM_001627 ALCAM,ALCAM,ALCAM,ALCAM EXON Missense_L90S,Missense_L90S,Missense_L90S,Missense_L90S exm335085 3 105243230 [A/G] NM_001243281,NM_001243283,NM_001243280,NM_001627 ALCAM,ALCAM,ALCAM,ALCAM EXON Missense_N91S,Missense_N91S,Missense_N91S,Missense_N91S exm335094 3 105253507 [T/C] NM_001243281,NM_001243280,NM_001627 ALCAM,ALCAM,ALCAM EXON Missense_A183V,Missense_A183V,Missense_A183V exm335104 3 105253645 [A/G] NM_001243281,NM_001243280,NM_001627 ALCAM,ALCAM,ALCAM EXON Missense_G229D,Missense_G229D,Missense_G229D exm335105 3 105258845 [A/G] NM_001243281,NM_001243280,NM_001627 ALCAM,ALCAM,ALCAM EXON Missense_V253M,Missense_V253M,Missense_V253M exm335107 3 105258861 [A/G] NM_001243281,NM_001243280,NM_001627 ALCAM,ALCAM,ALCAM EXON Missense_N258S,Missense_N258S,Missense_N258S exm335111 3 105258946 [A/G] NM_001243281,NM_001243280,NM_001627 ALCAM,ALCAM,ALCAM EXON Synonymous_P286P,Synonymous_P286P,Synonymous_P286P exm335124 3 105264129 [A/G] NM_001243281,NM_001243280,NM_001627 ALCAM,ALCAM,ALCAM EXON Missense_V352M,Missense_V352M,Missense_V352M exm335125 3 105264155 [T/G] NM_001243281,NM_001243280,NM_001627 ALCAM,ALCAM,ALCAM EXON Missense_R360S,Missense_R360S,Missense_R360S exm335126 3 105264176 [T/G] NM_001243281,NM_001243280,NM_001627 ALCAM,ALCAM,ALCAM EXON Missense_M367I,Missense_M367I,Missense_M367I exm335133 3 105269001 [T/G] NM_001243281,NM_001243280,NM_001627 ALCAM,ALCAM,ALCAM EXON Missense_Y469D,Missense_Y469D,Missense_Y469D exm335137 3 105271401 [A/G] NM_001243281,NM_001243280,NM_001627 ALCAM,ALCAM,ALCAM EXON Missense_V546I,Missense_V533I,Missense_V546I exm2273375 3 105377515 [T/C] NM_170662 CBLB EXON Silent exm335150 3 105377929 [A/G] NM_170662 CBLB EXON Missense_A945V exm335153 3 105377983 [A/G] NM_170662 CBLB EXON Missense_A927V exm2273952 3 105377994 [T/A] NM_170662 CBLB EXON Missense_H923Q exm335158 3 105378034 [A/G] NM_170662 CBLB EXON Missense_P910L exm335161 3 105378061 [C/G] NM_170662 CBLB EXON Missense_A901G exm335164 3 105389119 [T/C] NM_170662 CBLB EXON Missense_N883D exm335197 3 105404299 [A/G] NM_170662 CBLB EXON Missense_P689L exm335198 3 105412383 [T/C] NM_170662 CBLB EXON Missense_R670Q exm335199 3 105420963 [T/C] NM_170662 CBLB EXON Missense_H645R exm335201 3 105421032 [C/G] NM_170662 CBLB EXON Missense_S622T exm335211 3 105421156 [T/C] NM_170662 CBLB EXON Missense_V581M exm335213 3 105421227 [A/G] NM_170662 CBLB EXON Missense_P557L exm2032508 3 105438902 [T/C] NM_170662 CBLB EXON Missense_N466D exm335224 3 105438920 [T/C] NM_170662 CBLB EXON Missense_M460V exm335230 3 105438994 [T/C] NM_170662 CBLB EXON Missense_C435Y exm2269501 3 105455955 [T/C] NM_170662 CBLB Silent exm335249 3 105464791 [T/C] NM_170662 CBLB EXON Missense_R272Q exm-rs7638504 3 105499373 [T/C] NM_170662 CBLB Silent exm-rs9657904 3 105586714 [T/C] NM_170662 CBLB Silent exm2265608 3 105809730 [A/G] exm2255586 3 106050024 [T/C] exm-rs12491921 3 106288950 [T/C] exm2269652 3 106393843 [T/G] exm2255587 3 106404147 [A/C] exm2255588 3 106941033 [A/G] NR_028303 LOC100302640 Silent exm-rs2553955 3 107050997 [T/C] exm335284 3 107096547 [A/G] NM_032600 CCDC54 EXON Missense_R38Q exm335287 3 107096618 [A/G] NM_032600 CCDC54 EXON Missense_G62R exm2238276 3 107096703 [T/C] NM_032600 CCDC54 EXON Missense_M90T exm335291 3 107096750 [T/G] NM_032600 CCDC54 EXON Nonsense_E106X exm335293 3 107096768 [A/C] NM_032600 CCDC54 EXON Missense_M112L exm335295 3 107096847 [A/G] NM_032600 CCDC54 EXON Missense_K138R exm335296 3 107096868 [A/T] NM_032600 CCDC54 EXON Missense_I145N exm335297 3 107096877 [T/C] NM_032600 CCDC54 EXON Missense_S148F exm335300 3 107096948 [T/A] NM_032600 CCDC54 EXON Nonsense_K172X exm335303 3 107097030 [T/C] NM_032600 CCDC54 EXON Missense_P199L exm335304 3 107097072 [T/C] NM_032600 CCDC54 EXON Missense_I213T exm335306 3 107097102 [A/G] NM_032600 CCDC54 EXON Missense_R223H exm335308 3 107097137 [A/G] NM_032600 CCDC54 EXON Missense_A235T exm335312 3 107097236 [T/A] NM_032600 CCDC54 EXON Missense_L268I exm335316 3 107097407 [A/G] NM_032600 CCDC54 EXON Missense_V325I exm335317 3 107097414 [A/G] NM_032600 CCDC54 EXON Missense_R327Q exm2261349 3 107175486 [T/C] exm335320 3 107429321 [A/G] NM_001142568,NM_020235,NM_001276286 BBX,BBX,BBX EXON Missense_N5S,Missense_N5S,Missense_N5S exm335330 3 107435527 [A/G] NM_001142568,NM_020235,NM_001276286 BBX,BBX,BBX EXON Missense_R79Q,Missense_R79Q,Missense_R79Q exm335333 3 107435587 [A/G] NM_001142568,NM_020235,NM_001276286 BBX,BBX,BBX EXON Missense_R99H,Missense_R99H,Missense_R99H exm335334 3 107435605 [T/G] NM_001142568,NM_020235,NM_001276286 BBX,BBX,BBX EXON Missense_L105R,Missense_L105R,Missense_L105R exm-rs6437740 3 107465817 [T/C] NM_001142568,NM_020235,NM_001276286 BBX,BBX,BBX Silent,Silent,Silent exm335349 3 107466833 [T/A] NM_001142568,NM_020235,NM_001276286 BBX,BBX,BBX EXON Missense_S258T,Missense_S258T,Missense_S258T exm335350 3 107466840 [T/C] NM_001142568,NM_020235,NM_001276286 BBX,BBX,BBX EXON Missense_A260V,Missense_A260V,Missense_A260V exm335372 3 107491892 [A/G] NM_001142568,NM_020235,NM_001276286 BBX,BBX,BBX EXON Missense_A442T,Missense_A442T,Silent exm335383 3 107492182 [A/G] NM_001142568,NM_020235,NM_001276286 BBX,BBX,BBX EXON Missense_M538I,Missense_M538I,Silent exm335388 3 107492259 [T/A] NM_001142568,NM_020235,NM_001276286 BBX,BBX,BBX EXON Missense_I564N,Missense_I564N,Silent exm335390 3 107492294 [T/C] NM_001142568,NM_020235,NM_001276286 BBX,BBX,BBX EXON Missense_P576S,Missense_P576S,Silent exm335398 3 107493608 [C/G] NM_001142568,NM_020235,NM_001276286 BBX,BBX,BBX EXON Missense_G653A,Missense_G653A,Missense_G317R exm335403 3 107497267 [A/C] NM_001142568,NM_020235,NM_001276286 BBX,BBX,BBX EXON Missense_Q702K,Missense_Q702K,Synonymous_L365L exm335418 3 107517405 [G/C] NM_001142568,NM_020235,NM_001276286 BBX,BBX,BBX EXON Missense_V797L,Missense_V767L,Synonymous_L460L exm335420 3 107517460 [T/C] NM_001142568,NM_020235,NM_001276286 BBX,BBX,BBX EXON Missense_T815M,Missense_T785M,Missense_R479C exm335437 3 107524265 [A/G] NM_001142568,NM_020235,NM_001276286 BBX,BBX,BBX EXON Missense_M929I,Missense_M899I,Missense_C593Y exm2265609 3 107714075 [A/G] exm335448 3 107776404 [A/G] NM_198793,NM_001777 CD47,CD47 EXON Missense_M266T,Missense_M266T exm335450 3 107776415 [T/C] NM_198793,NM_001777 CD47,CD47 EXON Synonymous_A262A,Synonymous_A262A exm335451 3 107777185 [G/C] NM_198793,NM_001777 CD47,CD47 EXON Synonymous_A261A,Synonymous_A261A exm335466 3 107798858 [A/G] NM_198793,NM_001777 CD47,CD47 EXON Missense_I127T,Missense_I127T exm335469 3 107798983 [A/T] NM_198793,NM_001777 CD47,CD47 EXON Missense_K85N,Missense_K85N exm335473 3 107799146 [A/G] NM_198793,NM_001777 CD47,CD47 EXON Missense_T31M,Missense_T31M exm2238280 3 107799165 [T/A] NM_198793,NM_001777 CD47,CD47 EXON Missense_T25S,Missense_T25S exm2269504 3 107805334 [T/C] NM_198793,NM_001777 CD47,CD47 Silent,Silent exm335479 3 107881382 [T/C] NM_018010 IFT57 EXON Missense_N411S exm335482 3 107881463 [T/C] NM_018010 IFT57 EXON Missense_K384R exm335484 3 107881495 [A/C] NM_018010 IFT57 EXON Missense_L373F exm335489 3 107884324 [T/C] NM_018010 IFT57 EXON Missense_Q333R exm2032597 3 107886661 [T/G] NM_018010 IFT57 EXON Missense_E276D exm335501 3 107910426 [T/C] NM_018010 IFT57 EXON Missense_S240N exm335513 3 107932868 [T/C] NM_018010 IFT57 EXON Synonymous_R165R exm335516 3 107937401 [T/C] NM_018010 IFT57 EXON Missense_I159V exm335518 3 107937414 [T/G] NM_018010 IFT57 EXON Missense_E154D exm335529 3 107938354 [A/C] NM_018010 IFT57 EXON Missense_W93L exm335530 3 107938358 [A/C] NM_018010 IFT57 EXON Missense_A92S exm2032615 3 107941050 [T/C] NM_018010 IFT57 EXON Missense_M40I exm2032616 3 107941163 [T/C] NM_018010 IFT57 EXON Missense_A3T exm335539 3 107941167 [A/C] NM_018010 IFT57 EXON Missense_M1I exm2238283 3 108021333 [A/G] NM_007072 HHLA2 EXON Silent exm335541 3 108072287 [T/G] NM_007072 HHLA2 EXON Missense_L26F exm335542 3 108072298 [T/C] NM_007072 HHLA2 EXON Missense_I30T exm335544 3 108072329 [T/G] NM_007072 HHLA2 EXON Missense_I40M exm335545 3 108072387 [A/G] NM_007072 HHLA2 EXON Missense_V60I exm335562 3 108074043 [A/G] NM_007072 HHLA2 EXON Missense_R167H exm335564 3 108074105 [C/G] NM_007072 HHLA2 EXON Missense_G188R exm335575 3 108076849 [A/G] NM_007072 HHLA2 EXON Missense_I282V exm335578 3 108076875 [A/G] NM_007072 HHLA2 EXON Nonsense_W290X exm335581 3 108076928 [A/G] NM_007072 HHLA2 EXON Missense_N308S exm335582 3 108077008 [A/G] NM_007072 HHLA2 EXON Missense_E335K exm335584 3 108081217 [A/C] NM_007072 HHLA2 EXON Missense_N344K exm335586 3 108081277 [A/C] NM_007072 HHLA2 EXON Missense_S364R exm335590 3 108095355 [T/C] NM_007072 HHLA2 EXON Missense_P392L exm335600 3 108100406 [A/C] NM_014981 MYH15 EXON Missense_V1943F exm335606 3 108103534 [T/C] NM_014981 MYH15 EXON Synonymous_A1897A exm335613 3 108107849 [A/G] NM_014981 MYH15 EXON Missense_L1855F exm335615 3 108107854 [T/C] NM_014981 MYH15 EXON Missense_R1853H exm335623 3 108110618 [G/C] NM_014981 MYH15 EXON Missense_L1827V exm335627 3 108110705 [T/C] NM_014981 MYH15 EXON Missense_M1798V exm335628 3 108112954 [T/C] NM_014981 MYH15 EXON Missense_R1748Q exm335632 3 108117483 [T/C] NM_014981 MYH15 Silent exm335637 3 108117612 [A/G] NM_014981 MYH15 EXON Missense_R1689C exm335662 3 108127252 [A/C] NM_014981 MYH15 Silent exm335668 3 108129586 [T/C] NM_014981 MYH15 EXON Missense_D1467N exm335679 3 108129724 [T/C] NM_014981 MYH15 EXON Missense_A1421T exm335681 3 108129739 [T/C] NM_014981 MYH15 EXON Missense_M1416V exm335685 3 108133172 [T/C] NM_014981 MYH15 EXON Missense_R1371Q exm2032675 3 108133218 [A/G] NM_014981 MYH15 EXON Nonsense_R1356X exm335693 3 108133277 [T/C] NM_014981 MYH15 Silent exm335702 3 108140024 [T/C] NM_014981 MYH15 EXON Missense_R1267H exm335703 3 108140025 [A/G] NM_014981 MYH15 EXON Missense_R1267C exm335710 3 108147400 [T/C] NM_014981 MYH15 EXON Missense_S1234N exm2238285 3 108147679 [T/C] NM_014981 MYH15 EXON Missense_R1141Q exm335719 3 108147680 [A/G] NM_014981 MYH15 EXON Nonsense_R1141X exm335721 3 108147728 [T/C] NM_014981 MYH15 EXON Missense_T1125A exm335729 3 108156428 [T/G] NM_014981 MYH15 EXON Missense_Q1085P exm335735 3 108156515 [A/G] NM_014981 MYH15 EXON Missense_A1056V exm335742 3 108158661 [A/C] NM_014981 MYH15 EXON Missense_D1020Y exm335754 3 108159977 [A/G] NM_014981 MYH15 EXON Missense_T949I exm2032701 3 108163602 [T/G] NM_014981 MYH15 EXON Missense_E867A exm335765 3 108163632 [A/T] NM_014981 MYH15 EXON Missense_V857E exm335766 3 108163686 [T/C] NM_014981 MYH15 EXON Nonsense_W839X exm335771 3 108172857 [T/C] NM_014981 MYH15 EXON Missense_E819K exm335772 3 108172884 [A/G] NM_014981 MYH15 EXON Nonsense_R810X exm335777 3 108172953 [T/C] NM_014981 MYH15 EXON Missense_A787T exm335779 3 108174612 [C/G] NM_014981 MYH15 EXON Missense_H765D exm335782 3 108175728 [T/C] NM_014981 MYH15 EXON Missense_I695V exm335784 3 108178213 [T/C] NM_014981 MYH15 EXON Missense_I692M exm335794 3 108181993 [A/G] NM_014981 MYH15 EXON Missense_A630V exm2032714 3 108182000 [G/C] NM_014981 MYH15 EXON Missense_L628V exm335798 3 108183561 [A/G] NM_014981 MYH15 EXON Missense_S572L exm335799 3 108183585 [A/T] NM_014981 MYH15 EXON Missense_L564H exm335808 3 108188993 [A/G] NM_014981 MYH15 EXON Missense_H504Y exm335812 3 108189553 [T/C] NM_014981 MYH15 EXON Missense_I479V exm335814 3 108189582 [A/G] NM_014981 MYH15 EXON Missense_I469T exm335816 3 108189627 [T/C] NM_014981 MYH15 EXON Missense_R454Q exm335827 3 108203973 [T/G] NM_014981 MYH15 EXON Missense_P380H exm335850 3 108216901 [A/G] NM_014981 MYH15 EXON Nonsense_Q226X exm335856 3 108218302 [A/G] NM_014981 MYH15 EXON Missense_T195I exm2032746 3 108218986 [T/C] NM_014981 MYH15 EXON Missense_A179T exm335861 3 108219018 [A/G] NM_014981 MYH15 EXON Missense_A168V exm2032748 3 108220564 [T/C] NM_014981 MYH15 EXON Missense_I132V exm335874 3 108220603 [T/C] NM_014981 MYH15 EXON Missense_V119M exm335900 3 108271082 [T/C] NM_020890 KIAA1524 EXON Missense_K849R exm335902 3 108271169 [T/G] NM_020890 KIAA1524 EXON Missense_K820T exm335905 3 108273272 [T/C] NM_020890 KIAA1524 EXON Missense_I759V exm335908 3 108273312 [A/C] NM_020890 KIAA1524 EXON Missense_N745K exm335921 3 108276207 [T/A] NM_020890 KIAA1524 EXON Missense_S690C exm335923 3 108276243 [T/G] NM_020890 KIAA1524 EXON Missense_M678L exm335926 3 108278633 [A/G] NM_020890 KIAA1524 EXON Missense_R662C exm335931 3 108278871 [T/C] NM_020890 KIAA1524 EXON Missense_K611R exm335933 3 108279519 [G/C] NM_020890 KIAA1524 EXON Missense_E602Q exm2032771 3 108279578 [T/A] NM_020890 KIAA1524 EXON Missense_K582M exm335935 3 108279609 [A/C] NM_020890 KIAA1524 EXON Missense_S572A exm335936 3 108279656 [T/C] NM_020890 KIAA1524 EXON Missense_Y556C exm335940 3 108284236 [A/G] NM_020890 KIAA1524 EXON Missense_P494L exm335947 3 108285420 [T/C] NM_020890 KIAA1524 EXON Missense_T447A exm335950 3 108287049 [A/G] NM_020890 KIAA1524 EXON Missense_T409I exm335956 3 108288265 [T/C] NM_020890 KIAA1524 EXON Missense_A362T exm335957 3 108288285 [A/G] NM_020890 KIAA1524 EXON Missense_S355L exm335964 3 108288408 [T/C] NM_020890 KIAA1524 EXON Missense_H314R exm335971 3 108295135 [T/G] NM_020890 KIAA1524 EXON Missense_P293T exm335973 3 108295189 [G/C] NM_020890 KIAA1524 EXON Missense_E275Q exm335977 3 108298260 [T/C] NM_020890 KIAA1524 EXON Missense_R229Q exm335978 3 108298447 [A/G] NM_020890 KIAA1524 EXON Missense_S213F exm335982 3 108300260 [A/C] NM_020890 KIAA1524 Silent exm335984 3 108300348 [A/C] NM_020890 KIAA1524 EXON Nonsense_E155X exm335987 3 108300986 [T/C] NM_020890 KIAA1524 EXON Missense_D141N exm335988 3 108301003 [T/C] NM_020890 KIAA1524 EXON Missense_Y135C exm335989 3 108301030 [T/C] NM_020890 KIAA1524 EXON Missense_K126R exm335991 3 108301852 [G/C] NM_020890 KIAA1524 EXON Missense_S110T exm2255591 3 108301920 [A/G] NM_020890 KIAA1524 EXON Synonymous_I87I exm336001 3 108303989 [A/C] NM_020890 KIAA1524 EXON Missense_C58F exm336004 3 108304027 [T/A] NM_020890 KIAA1524 EXON Missense_F45L exm336011 3 108324261 [C/G] NM_014648 DZIP3 EXON Missense_S3C exm336012 3 108324270 [A/G] NM_014648 DZIP3 EXON Missense_D6G exm336019 3 108326995 [A/C] NM_014648 DZIP3 EXON Missense_S31Y exm336026 3 108335445 [T/C] NM_014648 DZIP3 EXON Missense_R106C exm336028 3 108335504 [T/C] NM_014648 DZIP3 EXON Synonymous_T125T exm336034 3 108344791 [A/G] NM_014648 DZIP3 EXON Missense_G186S exm336038 3 108347982 [A/G] NM_014648 DZIP3 EXON Missense_I219V exm336050 3 108351915 [A/G] NM_014648 DZIP3 EXON Missense_Y271C exm336058 3 108361326 [T/C] NM_014648 DZIP3 EXON Missense_I369T exm336060 3 108363103 [T/G] NM_014648 DZIP3 EXON Missense_F412V exm336064 3 108363206 [A/G] NM_014648 DZIP3 EXON Missense_G446D exm2255592 3 108363327 [A/G] NM_014648 DZIP3 EXON Synonymous_G486G exm336069 3 108363344 [T/C] NM_014648 DZIP3 EXON Missense_P492L exm336075 3 108363496 [A/G] NM_014648 DZIP3 EXON Missense_M543V exm336076 3 108363539 [A/C] NM_014648 DZIP3 EXON Missense_N557T exm336081 3 108365497 [A/G] NM_014648 DZIP3 Silent exm336084 3 108366888 [A/G] NM_014648 DZIP3 EXON Missense_A631T exm336097 3 108373008 [A/G] NM_014648 DZIP3 EXON Missense_K684E exm336105 3 108373098 [A/G] NM_014648 DZIP3 EXON Missense_A714T exm336110 3 108380782 [A/G] NM_014648 DZIP3 EXON Missense_R753H exm336111 3 108380982 [A/C] NM_014648 DZIP3 EXON Missense_F767L exm2238288 3 108388571 [T/C] NM_014648 DZIP3 EXON Missense_L823F exm336124 3 108388597 [T/G] NM_014648 DZIP3 Silent exm336127 3 108391459 [A/G] NM_014648 DZIP3 EXON Missense_V849I exm2032860 3 108396420 [T/C] NM_014648 DZIP3 EXON Missense_P953L exm336143 3 108403148 [T/C] NM_014648 DZIP3 EXON Missense_P990L exm336151 3 108405374 [T/C] NM_014648 DZIP3 EXON Missense_I1031T exm-rs746546 3 108458283 [T/C] exm336166 3 108474645 [A/G] NM_032579 RETNLB EXON Missense_R106C exm336171 3 108474696 [T/G] NM_032579 RETNLB EXON Missense_L89M exm336175 3 108475387 [T/C] NM_032579 RETNLB EXON Missense_K59R exm2238291 3 108475924 [T/C] NM_032579 RETNLB EXON Missense_D37N exm336179 3 108475945 [T/C] NM_032579 RETNLB EXON Missense_V30I exm336180 3 108475974 [A/G] NM_032579 RETNLB EXON Missense_P20L exm336187 3 108476019 [A/G] NM_032579 RETNLB EXON Missense_S5F exm2265487 3 108499238 [A/G] exm336198 3 108549621 [T/C] NM_016388 TRAT1 EXON Nonsense_R38X exm336199 3 108549622 [A/G] NM_016388 TRAT1 EXON Missense_R38Q exm336204 3 108565933 [T/G] NM_016388 TRAT1 EXON Missense_I57M exm336211 3 108568052 [A/G] NM_016388 TRAT1 EXON Missense_R85Q exm2032906 3 108568054 [T/C] NM_016388 TRAT1 EXON Missense_P86S exm336214 3 108572494 [A/G] NM_016388 TRAT1 EXON Missense_A111T exm2032909 3 108572524 [A/C] NM_016388 TRAT1 EXON Missense_R121S exm2032910 3 108572533 [A/C] NM_016388 TRAT1 EXON Missense_P124T exm336218 3 108572573 [A/G] NM_016388 TRAT1 EXON Missense_D137G exm336220 3 108572602 [A/G] NM_016388 TRAT1 EXON Missense_V147I exm336221 3 108572605 [T/C] NM_016388 TRAT1 EXON Missense_S148P exm336225 3 108572699 [A/G] NM_016388 TRAT1 EXON Missense_R179H exm336226 3 108572717 [T/C] NM_016388 TRAT1 EXON Missense_I185T exm2269654 3 108625479 [T/C] exm336231 3 108626945 [G/C] NM_005459 GUCA1C EXON Missense_G185A exm336235 3 108627024 [T/C] NM_005459 GUCA1C EXON Missense_M159V exm336241 3 108634973 [A/C] NM_005459 GUCA1C Silent exm336246 3 108635060 [A/G] NM_005459 GUCA1C EXON Missense_A119V exm336254 3 108639384 [T/C] NM_005459 GUCA1C EXON Missense_M85V exm336258 3 108639423 [T/C] NM_005459 GUCA1C EXON Missense_V72I exm2255594 3 108672514 [A/G] NM_005459 GUCA1C EXON Synonymous_S32S exm336263 3 108672558 [A/C] NM_005459 GUCA1C EXON Nonsense_E18X exm336264 3 108672572 [A/G] NM_005459 GUCA1C EXON Missense_A13V exm336268 3 108677826 [T/C] NM_014429 MORC1 EXON Missense_T981A exm336271 3 108677910 [T/C] NM_014429 MORC1 EXON Missense_E953K exm336286 3 108690221 [A/G] NM_014429 MORC1 EXON Missense_H836Y exm2255595 3 108698403 [T/C] NM_014429 MORC1 EXON Synonymous_T812T exm336292 3 108698431 [C/G] NM_014429 MORC1 EXON Missense_A803G exm336295 3 108698491 [T/C] NM_014429 MORC1 EXON Missense_D783G exm336296 3 108698497 [A/G] NM_014429 MORC1 EXON Missense_M781T exm336302 3 108703587 [T/C] NM_014429 MORC1 EXON Missense_S767N exm2032951 3 108705739 [C/G] NM_014429 MORC1 EXON Missense_L749V exm336310 3 108719436 [C/G] NM_014429 MORC1 EXON Missense_D719H exm336318 3 108723713 [A/G] NM_014429 MORC1 EXON Missense_T679I exm336321 3 108723983 [T/C] NM_014429 MORC1 EXON Missense_M649I exm336345 3 108754214 [T/C] NM_014429 MORC1 EXON Missense_M478V exm336347 3 108754222 [A/C] NM_014429 MORC1 EXON Missense_R475I exm336348 3 108754238 [A/T] NM_014429 MORC1 EXON Missense_F470I exm336359 3 108773585 [A/G] NM_014429 MORC1 EXON Synonymous_D440D exm2255596 3 108773585 [A/G] NM_014429 MORC1 EXON Synonymous_D440D exm2238294 3 108773722 [T/C] NM_014429 MORC1 EXON Missense_A395T exm336380 3 108780836 [T/A] NM_014429 MORC1 EXON Missense_K322M exm336390 3 108782075 [A/C] NM_014429 MORC1 EXON Missense_K273N exm336393 3 108788596 [T/G] NM_014429 MORC1 EXON Missense_A233E exm2032980 3 108813787 [T/C] NM_014429 MORC1 EXON Missense_M184I exm-rs4855697 3 108867128 [A/G] NR_033977 FLJ22763 EXON Silent exm336427 3 109023515 [T/C] NM_138815 DPPA2 EXON Missense_V221I exm336433 3 109026983 [A/G] NM_138815 DPPA2 EXON Missense_M185T exm2033018 3 109049430 [C/G] NM_018189 DPPA4 EXON Missense_A207G exm336480 3 109049625 [T/C] NM_018189 DPPA4 EXON Missense_R142Q exm2033022 3 109049658 [A/T] NM_018189 DPPA4 EXON Missense_D131V exm336491 3 109052732 [T/C] NM_018189 DPPA4 EXON Missense_I55V exm336494 3 109052791 [A/T] NM_018189 DPPA4 EXON Missense_Q35L exm2264033 3 109056751 [A/C] exm336508 3 109178758 [T/C] NM_001145553 FLJ25363 EXON Missense_T77I exm-rs769554 3 109204413 [T/C] NM_001145553 FLJ25363 Silent exm2265488 3 109213239 [A/G] NM_001145553 FLJ25363 EXON Missense_G181R exm2269505 3 109477246 [T/C] exm-rs13323983 3 109927376 [A/G] exm2269655 3 110043633 [T/C] exm2269506 3 110083511 [T/C] exm-rs10934040 3 110153012 [T/G] exm2269507 3 110467766 [T/C] exm336517 3 110790928 [A/G] NM_001243286,NM_015480 PVRL3,PVRL3 EXON Missense_A22T,Missense_A22T exm336522 3 110790997 [T/C] NM_001243286,NM_015480 PVRL3,PVRL3 EXON Missense_P45S,Missense_P45S exm336543 3 110841054 [A/C] NM_001243286,NM_015480,NM_001243288 PVRL3,PVRL3,PVRL3 EXON Missense_N296H,Missense_N296H,Missense_N273H exm336548 3 110845105 [A/G] NM_001243286,NM_015480,NM_001243288 PVRL3,PVRL3,PVRL3 EXON Missense_N331S,Missense_N331S,Missense_N308S exm336557 3 110852637 [A/G] NM_001243286,NM_015480,NM_001243288 PVRL3,PVRL3,PVRL3 EXON Silent,Missense_V409I,Silent exm336558 3 110852694 [T/C] NM_001243286,NM_015480,NM_001243288 PVRL3,PVRL3,PVRL3 EXON Silent,Missense_Y428H,Silent exm336559 3 110852718 [A/G] NM_001243286,NM_015480,NM_001243288 PVRL3,PVRL3,PVRL3 EXON Silent,Missense_G436R,Silent exm336561 3 110852851 [A/G] NM_001243286,NM_015480,NM_001243288 PVRL3,PVRL3,PVRL3 EXON Silent,Missense_N480S,Silent exm336570 3 110853057 [A/G] NM_001243286,NM_015480,NM_001243288 PVRL3,PVRL3,PVRL3 EXON Silent,Missense_V549I,Silent exm2261354 3 110882326 [T/G] NM_001243288 PVRL3 Silent exm2255601 3 110940862 [A/G] exm-rs76884941 3 111201785 [T/G] exm-rs56238310 3 111233239 [A/C] exm336575 3 111261097 [T/C] NM_198196,NM_005816 CD96,CD96 EXON Missense_M1T,Missense_M1T exm336577 3 111261127 [A/G] NM_198196,NM_005816 CD96,CD96 EXON Missense_Y11C,Missense_Y11C exm336586 3 111263991 [A/G] NM_198196,NM_005816 CD96,CD96 EXON Missense_V54M,Missense_V54M exm336589 3 111264012 [A/G] NM_198196,NM_005816 CD96,CD96 EXON Missense_V61I,Missense_V61I exm336595 3 111264190 [T/C] NM_198196,NM_005816 CD96,CD96 EXON Missense_L120P,Missense_L120P exm336602 3 111286375 [C/G] NM_198196,NM_005816 CD96,CD96 EXON Missense_A142P,Missense_A142P exm336603 3 111286400 [T/C] NM_198196,NM_005816 CD96,CD96 EXON Missense_T150M,Missense_T150M exm336605 3 111286403 [T/C] NM_198196,NM_005816 CD96,CD96 EXON Missense_I151T,Missense_I151T exm336608 3 111296362 [T/C] NM_198196,NM_005816 CD96,CD96 EXON Missense_T186M,Silent exm336611 3 111297908 [A/C] NM_198196,NM_005816 CD96,CD96 EXON Missense_Q209P,Missense_Q193P exm336612 3 111297916 [T/C] NM_198196,NM_005816 CD96,CD96 EXON Missense_L212F,Missense_L196F exm2033154 3 111297944 [A/G] NM_198196,NM_005816 CD96,CD96 EXON Missense_D221G,Missense_D205G exm336614 3 111298010 [A/G] NM_198196,NM_005816 CD96,CD96 EXON Missense_R243Q,Missense_R227Q exm336628 3 111312442 [A/G] NM_198196,NM_005816,NM_024508 CD96,CD96,ZBED2 EXON Silent,Silent,Nonsense_Q203X exm336629 3 111312445 [A/G] NM_198196,NM_005816,NM_024508 CD96,CD96,ZBED2 EXON Silent,Silent,Missense_C202R exm336636 3 111312553 [T/C] NM_198196,NM_005816,NM_024508 CD96,CD96,ZBED2 EXON Silent,Silent,Missense_A166T exm336637 3 111312555 [T/C] NM_198196,NM_005816,NM_024508 CD96,CD96,ZBED2 EXON Silent,Silent,Missense_R165K exm336643 3 111312687 [T/C] NM_198196,NM_005816,NM_024508 CD96,CD96,ZBED2 EXON Silent,Silent,Missense_R121H exm336650 3 111312826 [A/G] NM_198196,NM_005816,NM_024508 CD96,CD96,ZBED2 EXON Silent,Silent,Missense_Y75H exm336657 3 111312950 [T/A] NM_198196,NM_005816,NM_024508 CD96,CD96,ZBED2 EXON Silent,Silent,Missense_E33D exm336665 3 111313030 [T/C] NM_198196,NM_005816,NM_024508 CD96,CD96,ZBED2 EXON Silent,Silent,Missense_E7K exm336666 3 111313038 [T/C] NM_198196,NM_005816,NM_024508 CD96,CD96,ZBED2 EXON Silent,Silent,Missense_R4Q exm2261355 3 111313457 [T/C] NM_198196,NM_005816,NM_024508 CD96,CD96,ZBED2 EXON Silent,Silent,Silent exm336667 3 111316970 [A/G] NM_198196,NM_005816 CD96,CD96 EXON Missense_R287G,Missense_R271G exm336673 3 111319666 [A/G] NM_198196,NM_005816 CD96,CD96 EXON Missense_Q347R,Missense_Q331R exm336674 3 111319674 [T/A] NM_198196,NM_005816 CD96,CD96 EXON Missense_N350Y,Missense_N334Y exm336676 3 111319710 [T/C] NM_198196,NM_005816 CD96,CD96 EXON Missense_P362S,Missense_P346S exm336683 3 111325625 [A/G] NM_198196,NM_005816 CD96,CD96 EXON Missense_S405N,Missense_S389N exm2033169 3 111342600 [A/G] NM_198196,NM_005816 CD96,CD96 Silent,Silent exm336686 3 111342667 [T/A] NM_198196,NM_005816 CD96,CD96 EXON Missense_Q432L,Missense_Q416L exm336688 3 111343181 [A/C] NM_198196,NM_005816 CD96,CD96 EXON Synonymous_P433P,Synonymous_P417P exm336690 3 111356051 [T/C] NM_198196,NM_005816 CD96,CD96 EXON Missense_R460W,Missense_R444W exm2255604 3 111394179 [A/G] NM_001185106,NM_153268 PLCXD2,PLCXD2 EXON Synonymous_E29E,Synonymous_E29E exm-rs4450776 3 111423129 [C/G] NM_001185106,NM_153268 PLCXD2,PLCXD2 Silent,Silent exm336720 3 111426839 [T/C] NM_001185106,NM_153268 PLCXD2,PLCXD2 EXON Missense_A77V,Missense_A77V exm336722 3 111426848 [A/G] NM_001185106,NM_153268 PLCXD2,PLCXD2 EXON Missense_R80H,Missense_R80H exm336730 3 111427070 [T/C] NM_001185106,NM_153268 PLCXD2,PLCXD2 EXON Missense_P154L,Missense_P154L exm336732 3 111427208 [A/G] NM_001185106,NM_153268 PLCXD2,PLCXD2 EXON Missense_R200Q,Missense_R200Q exm336734 3 111432752 [T/C] NM_001185106,NM_153268 PLCXD2,PLCXD2 EXON Missense_C215R,Missense_C215R exm336739 3 111432825 [A/G] NM_001185106,NM_153268 PLCXD2,PLCXD2 EXON Missense_S239N,Missense_S239N exm336745 3 111432963 [T/C] NM_001185106,NM_153268 PLCXD2,PLCXD2 EXON Missense_T285M,Missense_T285M exm2269508 3 111513720 [T/G] NM_001185106,NM_153268,NM_001134437 PLCXD2,PLCXD2,PHLDB2 Silent,Silent,Silent exm336749 3 111564728 [A/G] NM_001185106,NM_153268,NM_001134437 PLCXD2,PLCXD2,PHLDB2 EXON Silent,Silent,Missense_D5N exm336757 3 111603046 [A/G] NM_001134437,NM_145753,NM_001134438,NM_001134439 PHLDB2,PHLDB2,PHLDB2,PHLDB2 EXON Missense_K68R,Missense_K41R,Missense_K41R,Missense_K41R exm336758 3 111603061 [T/G] NM_001134437,NM_145753,NM_001134438,NM_001134439 PHLDB2,PHLDB2,PHLDB2,PHLDB2 EXON Missense_S73I,Missense_S46I,Missense_S46I,Missense_S46I exm336760 3 111603151 [T/G] NM_001134437,NM_145753,NM_001134438,NM_001134439 PHLDB2,PHLDB2,PHLDB2,PHLDB2 EXON Missense_G103V,Missense_G76V,Missense_G76V,Missense_G76V exm2033200 3 111603313 [T/A] NM_001134437,NM_145753,NM_001134438,NM_001134439 PHLDB2,PHLDB2,PHLDB2,PHLDB2 EXON Missense_H157L,Missense_H130L,Missense_H130L,Missense_H130L exm336767 3 111603355 [T/A] NM_001134437,NM_145753,NM_001134438,NM_001134439 PHLDB2,PHLDB2,PHLDB2,PHLDB2 EXON Missense_E171V,Missense_E144V,Missense_E144V,Missense_E144V exm336771 3 111603493 [T/C] NM_001134437,NM_145753,NM_001134438,NM_001134439 PHLDB2,PHLDB2,PHLDB2,PHLDB2 EXON Missense_P217L,Missense_P190L,Missense_P190L,Missense_P190L exm336772 3 111603496 [T/C] NM_001134437,NM_145753,NM_001134438,NM_001134439 PHLDB2,PHLDB2,PHLDB2,PHLDB2 EXON Missense_P218L,Missense_P191L,Missense_P191L,Missense_P191L exm336779 3 111603633 [A/G] NM_001134437,NM_145753,NM_001134438,NM_001134439 PHLDB2,PHLDB2,PHLDB2,PHLDB2 EXON Missense_R264G,Missense_R237G,Missense_R237G,Missense_R237G exm336782 3 111603771 [T/C] NM_001134437,NM_145753,NM_001134438,NM_001134439 PHLDB2,PHLDB2,PHLDB2,PHLDB2 EXON Nonsense_R310X,Nonsense_R283X,Nonsense_R283X,Nonsense_R283X exm336784 3 111603790 [A/G] NM_001134437,NM_145753,NM_001134438,NM_001134439 PHLDB2,PHLDB2,PHLDB2,PHLDB2 EXON Missense_K316R,Missense_K289R,Missense_K289R,Missense_K289R exm336785 3 111603794 [A/T] NM_001134437,NM_145753,NM_001134438,NM_001134439 PHLDB2,PHLDB2,PHLDB2,PHLDB2 EXON Missense_D317E,Missense_D290E,Missense_D290E,Missense_D290E exm336800 3 111603969 [T/C] NM_001134437,NM_145753,NM_001134438,NM_001134439 PHLDB2,PHLDB2,PHLDB2,PHLDB2 EXON Missense_C376R,Missense_C349R,Missense_C349R,Missense_C349R exm336819 3 111632247 [A/G] NM_001134437,NM_145753,NM_001134438,NM_001134439 PHLDB2,PHLDB2,PHLDB2,PHLDB2 EXON Missense_V500M,Missense_V473M,Missense_V473M,Missense_V473M exm336822 3 111632292 [G/C] NM_001134437,NM_145753,NM_001134438,NM_001134439 PHLDB2,PHLDB2,PHLDB2,PHLDB2 EXON Missense_L515V,Missense_L488V,Missense_L488V,Missense_L488V exm336828 3 111632344 [T/G] NM_001134437,NM_145753,NM_001134438,NM_001134439 PHLDB2,PHLDB2,PHLDB2,PHLDB2 EXON Missense_R532I,Missense_R505I,Missense_R505I,Missense_R505I exm336831 3 111632416 [C/G] NM_001134437,NM_145753,NM_001134438,NM_001134439 PHLDB2,PHLDB2,PHLDB2,PHLDB2 EXON Missense_S556T,Missense_S529T,Missense_S529T,Missense_S529T exm336832 3 111632422 [A/G] NM_001134437,NM_145753,NM_001134438,NM_001134439 PHLDB2,PHLDB2,PHLDB2,PHLDB2 EXON Missense_S558N,Missense_S531N,Missense_S531N,Missense_S531N exm336846 3 111637980 [A/G] NM_001134437,NM_145753,NM_001134438,NM_001134439 PHLDB2,PHLDB2,PHLDB2,PHLDB2 EXON Missense_R621Q,Missense_R594Q,Missense_R594Q,Missense_R594Q exm336850 3 111639187 [T/C] NM_001134437,NM_145753,NM_001134438,NM_001134439 PHLDB2,PHLDB2,PHLDB2,PHLDB2 EXON Missense_M668T,Missense_M641T,Missense_M641T,Missense_M641T exm336865 3 111659453 [T/G] NM_001134437,NM_145753,NM_001134438,NM_001134439 PHLDB2,PHLDB2,PHLDB2,PHLDB2 EXON Missense_F770L,Missense_F743L,Missense_F786L,Missense_F786L exm336866 3 111659480 [A/G] NM_001134437,NM_145753,NM_001134438,NM_001134439 PHLDB2,PHLDB2,PHLDB2,PHLDB2 EXON Missense_M779I,Missense_M752I,Missense_M795I,Missense_M795I exm336870 3 111664151 [T/C] NM_001134437,NM_145753,NM_001134438,NM_001134439 PHLDB2,PHLDB2,PHLDB2,PHLDB2 EXON Missense_S796P,Missense_S769P,Missense_S812P,Missense_S812P exm336873 3 111664191 [A/G] NM_001134437,NM_145753,NM_001134438,NM_001134439 PHLDB2,PHLDB2,PHLDB2,PHLDB2 EXON Missense_N809S,Missense_N782S,Missense_N825S,Missense_N825S exm336877 3 111667833 [A/T] NM_001134437,NM_145753,NM_001134438,NM_001134439 PHLDB2,PHLDB2,PHLDB2,PHLDB2 EXON Missense_S832T,Missense_S805T,Missense_S848T,Missense_S848T exm336880 3 111667900 [T/C] NM_001134437,NM_145753,NM_001134438,NM_001134439 PHLDB2,PHLDB2,PHLDB2,PHLDB2 EXON Missense_A854V,Missense_A827V,Missense_A870V,Missense_A870V exm336884 3 111671426 [A/G] NM_001134437,NM_145753,NM_001134438,NM_001134439 PHLDB2,PHLDB2,PHLDB2,PHLDB2 EXON Missense_R864K,Missense_R837K,Missense_R880K,Missense_R880K exm336887 3 111671473 [T/A] NM_001134437,NM_145753,NM_001134438,NM_001134439 PHLDB2,PHLDB2,PHLDB2,PHLDB2 EXON Missense_S880C,Missense_S853C,Missense_S896C,Missense_S896C exm336892 3 111672822 [T/C] NM_001134437,NM_145753,NM_001134438,NM_001134439 PHLDB2,PHLDB2,PHLDB2,PHLDB2 EXON Missense_P924S,Missense_P897S,Missense_P940S,Missense_P940S exm336893 3 111672825 [T/C] NM_001134437,NM_145753,NM_001134438,NM_001134439 PHLDB2,PHLDB2,PHLDB2,PHLDB2 EXON Missense_P925S,Missense_P898S,Missense_P941S,Missense_P941S exm336894 3 111672861 [T/C] NM_001134437,NM_145753,NM_001134438,NM_001134439 PHLDB2,PHLDB2,PHLDB2,PHLDB2 EXON Missense_R937W,Missense_R910W,Missense_R953W,Missense_R953W exm336905 3 111681152 [A/G] NM_001134437,NM_145753,NM_001134438,NM_001134439 PHLDB2,PHLDB2,PHLDB2,PHLDB2 EXON Missense_I1008V,Missense_I981V,Missense_I1024V,Missense_I1024V exm336908 3 111685534 [A/G] NM_001134437,NM_145753,NM_001134438,NM_001134439 PHLDB2,PHLDB2,PHLDB2,PHLDB2 EXON Missense_R1035Q,Missense_R1008Q,Missense_R1051Q,Missense_R1051Q exm336926 3 111692636 [A/G] NM_001134437,NM_145753,NM_001134438,NM_001134439 PHLDB2,PHLDB2,PHLDB2,PHLDB2 EXON Missense_Y1182C,Missense_Y1155C,Missense_Y1198C,Missense_Y1198C exm336935 3 111697922 [G/C] NR_073571,NM_001272069,NM_018394,NR_073570 ABHD10,ABHD10,ABHD10,ABHD10 EXON Silent,Missense_R5P,Missense_R5P,Silent exm336936 3 111697931 [A/C] NR_073571,NM_001272069,NM_018394,NR_073570 ABHD10,ABHD10,ABHD10,ABHD10 EXON Silent,Missense_A8D,Missense_A8D,Silent exm336940 3 111697987 [T/C] NR_073571,NM_001272069,NM_018394,NR_073570 ABHD10,ABHD10,ABHD10,ABHD10 EXON Silent,Missense_P27S,Missense_P27S,Silent exm336964 3 111705800 [T/C] NR_073571,NM_001272069,NM_018394,NR_073570 ABHD10,ABHD10,ABHD10,ABHD10 EXON Silent,Missense_H160Y,Missense_H160Y,Silent exm336969 3 111710284 [A/G] NR_073571,NM_001272069,NM_018394,NR_073570 ABHD10,ABHD10,ABHD10,ABHD10 EXON Silent,Silent,Missense_G213R,Silent exm336970 3 111710287 [G/C] NR_073571,NM_001272069,NM_018394,NR_073570 ABHD10,ABHD10,ABHD10,ABHD10 EXON Silent,Silent,Missense_V214L,Silent exm336973 3 111710350 [A/G] NR_073571,NM_001272069,NM_018394,NR_073570 ABHD10,ABHD10,ABHD10,ABHD10 EXON Silent,Silent,Missense_I235V,Silent exm336976 3 111710398 [A/G] NR_073571,NM_001272069,NM_018394,NR_073570 ABHD10,ABHD10,ABHD10,ABHD10 EXON Silent,Silent,Missense_I251V,Silent exm336979 3 111710446 [A/C] NR_073571,NM_001272069,NM_018394,NR_073570 ABHD10,ABHD10,ABHD10,ABHD10 EXON Silent,Silent,Missense_T267P,Silent exm336980 3 111710480 [T/A] NR_073571,NM_001272069,NM_018394,NR_073570 ABHD10,ABHD10,ABHD10,ABHD10 EXON Silent,Silent,Missense_D278V,Silent exm337001 3 111760812 [C/G] NM_001042575,NR_026734 TMPRSS7,TMPRSS7 EXON Missense_R3P,Silent exm337014 3 111766585 [A/G] NM_001042575,NR_026734 TMPRSS7,TMPRSS7 Silent,Silent exm337015 3 111766612 [A/G] NM_001042575,NR_026734 TMPRSS7,TMPRSS7 EXON Missense_A127T,Silent exm337016 3 111766637 [T/C] NM_001042575,NR_026734 TMPRSS7,TMPRSS7 EXON Missense_P135L,Silent exm337017 3 111766711 [T/C] NM_001042575,NR_026734 TMPRSS7,TMPRSS7 EXON Missense_R160C,Silent exm-IND3-113249438 3 111766749 [D/I] NM_001042575,NR_026734 TMPRSS7,TMPRSS7 EXON exm337022 3 111766795 [T/C] NM_001042575,NR_026734 TMPRSS7,TMPRSS7 EXON Missense_R188W,Silent exm337032 3 111775885 [T/C] NM_001042575,NR_026734 TMPRSS7,TMPRSS7 EXON Missense_T280I,Silent exm337033 3 111775891 [A/G] NM_001042575,NR_026734 TMPRSS7,TMPRSS7 EXON Missense_G282D,Silent exm337035 3 111775906 [T/C] NM_001042575,NR_026734 TMPRSS7,TMPRSS7 EXON Missense_F287S,Silent exm337043 3 111780671 [T/C] NM_001042575,NR_026734 TMPRSS7,TMPRSS7 EXON Nonsense_R324X,Silent exm337046 3 111780693 [A/G] NM_001042575,NR_026734 TMPRSS7,TMPRSS7 EXON Missense_H331R,Silent exm337048 3 111780716 [A/T] NM_001042575,NR_026734 TMPRSS7,TMPRSS7 EXON Missense_R339W,Silent exm337050 3 111780727 [A/C] NM_001042575,NR_026734 TMPRSS7,TMPRSS7 EXON Missense_D342E,Silent exm337051 3 111780734 [T/C] NM_001042575,NR_026734 TMPRSS7,TMPRSS7 EXON Missense_L345F,Silent exm337052 3 111780741 [T/C] NM_001042575,NR_026734 TMPRSS7,TMPRSS7 EXON Missense_A347V,Silent exm337055 3 111782404 [A/G] NM_001042575,NR_026734 TMPRSS7,TMPRSS7 EXON Missense_G368S,Silent exm337061 3 111785283 [A/G] NM_001042575,NR_026734 TMPRSS7,TMPRSS7 EXON Missense_G408S,Silent exm337069 3 111793212 [A/G] NM_001042575,NR_026734 TMPRSS7,TMPRSS7 EXON Missense_C453Y,Silent exm2273954 3 111794198 [A/G] NM_001042575,NR_026734 TMPRSS7,TMPRSS7 EXON Missense_R479H,Silent exm2238305 3 111794246 [T/G] NM_001042575,NR_026734 TMPRSS7,TMPRSS7 EXON Missense_V495G,Silent exm2273955 3 111795910 [A/G] NM_001042575,NR_026734 TMPRSS7,TMPRSS7 EXON Missense_I589V,Silent exm337090 3 111795976 [T/C] NM_001042575,NR_026734 TMPRSS7,TMPRSS7 EXON Nonsense_R611X,Silent exm337097 3 111797617 [A/T] NM_001042575,NR_026734 TMPRSS7,TMPRSS7 EXON Missense_Q625H,Silent exm337106 3 111799810 [T/G] NM_001042575,NR_026734 TMPRSS7,TMPRSS7 EXON Missense_W678L,Silent exm337108 3 111799845 [A/T] NM_001042575,NR_026734 TMPRSS7,TMPRSS7 EXON Missense_S690C,Silent exm337109 3 111799851 [T/C] NM_001042575,NR_026734 TMPRSS7,TMPRSS7 EXON Nonsense_R692X,Silent exm337111 3 111799867 [A/G] NM_001042575,NR_026734 TMPRSS7,TMPRSS7 EXON Missense_G697D,Silent exm337112 3 111799893 [A/G] NM_001042575,NR_026734 TMPRSS7,TMPRSS7 EXON Missense_V706I,Silent exm337113 3 111799894 [T/C] NM_001042575,NR_026734 TMPRSS7,TMPRSS7 EXON Missense_V706A,Silent exm337123 3 111812214 [A/G] NM_024616,NM_001171747 C3orf52,C3orf52 EXON Missense_K49R,Missense_K49R exm337125 3 111812265 [T/C] NM_024616,NM_001171747 C3orf52,C3orf52 EXON Missense_L66P,Missense_L66P exm337131 3 111821711 [A/G] NM_024616,NM_001171747 C3orf52,C3orf52 EXON Missense_E99K,Missense_E99K exm337133 3 111821736 [A/G] NM_024616,NM_001171747 C3orf52,C3orf52 EXON Missense_K107R,Missense_K107R exm337134 3 111821747 [A/G] NM_024616,NM_001171747 C3orf52,C3orf52 EXON Missense_I111V,Missense_I111V exm337137 3 111821808 [T/A] NM_024616,NM_001171747 C3orf52,C3orf52 EXON Missense_E131V,Missense_E131V exm337142 3 111828423 [A/G] NM_024616,NM_001171747 C3orf52,C3orf52 EXON Missense_G144S,Silent exm337153 3 111831831 [T/C] NM_024616,NM_001171747 C3orf52,C3orf52 EXON Missense_T163M,Silent exm337157 3 111831896 [A/G] NM_024616,NM_001171747 C3orf52,C3orf52 EXON Missense_E185K,Silent exm337159 3 111831909 [G/C] NM_024616,NM_001171747 C3orf52,C3orf52 EXON Missense_G189A,Silent exm337165 3 111831992 [A/G] NM_024616,NM_001171747 C3orf52,C3orf52 EXON Missense_E217K,Silent exm2033331 3 111835543 [A/G] NM_024616,NM_001171747 C3orf52,C3orf52 EXON Silent,Missense_E151K exm337167 3 111835594 [T/C] NM_024616,NM_001171747 C3orf52,C3orf52 EXON Silent,Nonsense_Q168X exm337170 3 111835739 [T/C] NM_024616,NM_001171747 C3orf52,C3orf52 EXON Silent,Missense_A216V exm337174 3 111842346 [A/G] NM_001190259,NM_152785,NM_001190260 GCSAM,GCSAM,GCSAM EXON Missense_R167C,Missense_R165C,Missense_R150C exm337177 3 111842375 [A/C] NM_001190259,NM_152785,NM_001190260 GCSAM,GCSAM,GCSAM EXON Missense_R157I,Missense_R155I,Missense_R140I exm2238310 3 111842471 [T/C] NM_001190259,NM_152785,NM_001190260 GCSAM,GCSAM,GCSAM EXON Missense_G125E,Missense_G123E,Missense_G108E exm337184 3 111842508 [G/C] NM_001190259,NM_152785,NM_001190260 GCSAM,GCSAM,GCSAM EXON Missense_P113A,Missense_P111A,Missense_P96A exm337186 3 111842534 [A/G] NM_001190259,NM_152785,NM_001190260 GCSAM,GCSAM,GCSAM EXON Missense_S104F,Missense_S102F,Missense_S87F exm337195 3 111845841 [T/G] NM_001190259,NM_152785,NM_001190260 GCSAM,GCSAM,GCSAM EXON Missense_Q63H,Missense_Q61H,Missense_Q46H exm337200 3 111846865 [A/G] NM_001190259,NM_152785,NM_001190260 GCSAM,GCSAM,GCSAM EXON Missense_W50R,Missense_W48R,Silent exm337205 3 111849318 [T/C] NM_001190259,NM_152785,NM_001190260 GCSAM,GCSAM,GCSAM EXON Missense_M26I,Missense_M24I,Missense_M24I exm337208 3 111849358 [T/C] NM_001190259,NM_152785,NM_001190260 GCSAM,GCSAM,GCSAM EXON Missense_R13Q,Missense_R11Q,Missense_R11Q exm337228 3 111870771 [T/G] NM_183061 SLC9C1 EXON Missense_P1153T exm337231 3 111873869 [A/C] NM_183061 SLC9C1 EXON Missense_I1131S exm337237 3 111886191 [T/G] NM_183061 SLC9C1 EXON Missense_Q1081K exm337239 3 111887771 [A/G] NM_183061 SLC9C1 EXON Nonsense_R1064X exm337243 3 111887792 [A/C] NM_183061 SLC9C1 EXON Missense_A1057S exm337251 3 111888130 [A/G] NM_183061 SLC9C1 EXON Missense_C989R exm337252 3 111888137 [T/A] NM_183061 SLC9C1 EXON Missense_F986L exm2264001 3 111897540 [A/C] NM_183061 SLC9C1 Silent exm337258 3 111898502 [A/G] NM_183061 SLC9C1 EXON Missense_S932L exm337262 3 111899409 [A/G] NM_183061 SLC9C1 Silent exm337264 3 111899449 [A/G] NM_183061 SLC9C1 EXON Missense_P904S exm337268 3 111901062 [A/T] NM_183061 SLC9C1 EXON Missense_I856N exm337269 3 111901099 [T/C] NM_183061 SLC9C1 EXON Missense_M844V exm337271 3 111918215 [T/C] NM_183061 SLC9C1 EXON Missense_G826S exm337276 3 111918281 [T/C] NM_183061 SLC9C1 EXON Missense_T804A exm337283 3 111921116 [A/C] NM_183061 SLC9C1 EXON Missense_S768I exm337287 3 111923084 [T/C] NM_183061 SLC9C1 EXON Missense_R718H exm337289 3 111923123 [A/G] NM_183061 SLC9C1 EXON Missense_T705I exm2033363 3 111923150 [T/C] NM_183061 SLC9C1 EXON Missense_D696G exm337290 3 111923153 [A/G] NM_183061 SLC9C1 EXON Missense_I695T exm337292 3 111923210 [T/C] NM_183061 SLC9C1 EXON Missense_N676S exm337298 3 111927115 [A/C] NM_183061 SLC9C1 EXON Missense_W632C exm337301 3 111927206 [T/C] NM_183061 SLC9C1 EXON Missense_R602H exm337310 3 111939974 [A/C] NM_183061 SLC9C1 Silent exm337313 3 111950254 [G/C] NM_183061 SLC9C1 EXON Missense_T509S exm337322 3 111958820 [A/G] NM_183061 SLC9C1 EXON Missense_S438L exm2033377 3 111958848 [A/G] NM_183061 SLC9C1 EXON Missense_R429C exm337325 3 111962851 [T/C] NM_183061 SLC9C1 EXON Missense_T424A exm337337 3 111981878 [T/C] NM_183061 SLC9C1 EXON Missense_I364V exm337343 3 111981924 [T/C] NM_183061 SLC9C1 EXON Missense_I348M exm337351 3 111985107 [T/C] NM_183061 SLC9C1 EXON Missense_I286V exm337359 3 111993752 [T/C] NM_183061 SLC9C1 EXON Missense_H202R exm337361 3 111993793 [A/T] NM_183061 SLC9C1 EXON Missense_S188R exm337367 3 111996554 [T/C] NM_183061 SLC9C1 EXON Missense_I158V exm337396 3 112059768 [G/C] NM_005944,NM_001004196 CD200,CD200 EXON Missense_S11C,Missense_S36C exm337402 3 112063850 [A/C] NM_005944,NM_001004196 CD200,CD200 EXON Missense_P46T,Missense_P71T exm337404 3 112063957 [A/C] NM_005944,NM_001004196 CD200,CD200 EXON Missense_N81K,Missense_N106K exm337405 3 112063971 [T/C] NM_005944,NM_001004196 CD200,CD200 EXON Missense_I86T,Missense_I111T exm337413 3 112066446 [T/C] NM_005944,NM_001004196 CD200,CD200 EXON Missense_H155Y,Missense_H180Y exm337422 3 112066570 [T/C] NM_005944,NM_001004196 CD200,CD200 EXON Missense_T196I,Missense_T221I exm337429 3 112066668 [A/G] NM_005944,NM_001004196 CD200,CD200 EXON Missense_V229I,Missense_V254I exm337431 3 112068615 [A/G] NM_005944,NM_001004196 CD200,CD200 EXON Missense_V251I,Missense_V276I exm337443 3 112185025 [A/G] NM_001085357,NM_181780 BTLA,BTLA EXON Missense_P219L,Missense_P267L exm337449 3 112188609 [T/G] NM_001085357,NM_181780 BTLA,BTLA EXON Missense_N149T,Missense_N197T exm337451 3 112188649 [T/C] NM_001085357,NM_181780 BTLA,BTLA EXON Missense_K136E,Missense_K184E exm337454 3 112190137 [T/G] NM_001085357,NM_181780 BTLA,BTLA EXON Silent,Missense_R157S exm337460 3 112198335 [T/C] NM_001085357,NM_181780 BTLA,BTLA EXON Missense_I124V,Missense_I124V exm337492 3 112262921 [T/G] NM_022488 ATG3 EXON Missense_I126L exm337494 3 112262938 [A/G] NM_022488 ATG3 EXON Missense_T120M exm337498 3 112267464 [G/C] NM_022488 ATG3 EXON Missense_Q87E exm337517 3 112282323 [A/G] NM_017945 SLC35A5 EXON Missense_I25V exm337521 3 112288095 [T/C] NM_017945 SLC35A5 EXON Missense_S70P exm337527 3 112289416 [T/C] NM_017945 SLC35A5 EXON Missense_S87P exm337534 3 112299398 [A/G] NM_017945 SLC35A5 EXON Missense_R145H exm337542 3 112299542 [T/C] NM_017945 SLC35A5 EXON Missense_L193P exm337544 3 112299584 [T/C] NM_017945 SLC35A5 EXON Missense_A207V exm337548 3 112299710 [A/G] NM_017945 SLC35A5 EXON Missense_Y249C exm337550 3 112299734 [A/G] NM_017945 SLC35A5 EXON Missense_G257E exm337555 3 112299961 [A/G] NM_017945 SLC35A5 EXON Missense_V333I exm337558 3 112300052 [T/C] NM_017945 SLC35A5 EXON Missense_A363V exm337573 3 112324305 [A/G] NM_199512,NM_199511 CCDC80,CCDC80 EXON Missense_Y938H,Missense_Y938H exm337583 3 112328836 [A/G] NM_199512,NM_199511 CCDC80,CCDC80 EXON Missense_A805V,Missense_A805V exm337586 3 112328923 [T/C] NM_199512,NM_199511 CCDC80,CCDC80 EXON Missense_R776Q,Missense_R776Q exm2255606 3 112335658 [A/G] NM_199512,NM_199511 CCDC80,CCDC80 EXON Synonymous_I740I,Synonymous_I740I exm337623 3 112357078 [A/C] NM_199512,NM_199511 CCDC80,CCDC80 EXON Missense_A559S,Missense_A559S exm337626 3 112357133 [T/A] NM_199512,NM_199511 CCDC80,CCDC80 EXON Missense_H540Q,Missense_H540Q exm337635 3 112357245 [T/C] NM_199512,NM_199511 CCDC80,CCDC80 EXON Missense_S503N,Missense_S503N exm337640 3 112357333 [T/C] NM_199512,NM_199511 CCDC80,CCDC80 EXON Missense_G474S,Missense_G474S exm337641 3 112357335 [T/C] NM_199512,NM_199511 CCDC80,CCDC80 EXON Missense_H473R,Missense_H473R exm337642 3 112357336 [A/G] NM_199512,NM_199511 CCDC80,CCDC80 EXON Missense_H473Y,Missense_H473Y exm337645 3 112357368 [T/C] NM_199512,NM_199511 CCDC80,CCDC80 EXON Missense_R462H,Missense_R462H exm337649 3 112357515 [T/G] NM_199512,NM_199511 CCDC80,CCDC80 EXON Missense_N413T,Missense_N413T exm337650 3 112357548 [A/G] NM_199512,NM_199511 CCDC80,CCDC80 EXON Missense_V402A,Missense_V402A exm337652 3 112357561 [T/C] NM_199512,NM_199511 CCDC80,CCDC80 EXON Missense_T398A,Missense_T398A exm337653 3 112357564 [A/G] NM_199512,NM_199511 CCDC80,CCDC80 EXON Missense_P397S,Missense_P397S exm337659 3 112357668 [G/C] NM_199512,NM_199511 CCDC80,CCDC80 EXON Missense_T362S,Missense_T362S exm337666 3 112357734 [C/G] NM_199512,NM_199511 CCDC80,CCDC80 EXON Missense_A340G,Missense_A340G exm337670 3 112357771 [T/C] NM_199512,NM_199511 CCDC80,CCDC80 EXON Missense_V328M,Missense_V328M exm2033494 3 112358107 [A/G] NM_199512,NM_199511 CCDC80,CCDC80 EXON Missense_P216S,Missense_P216S exm337699 3 112358333 [C/G] NM_199512,NM_199511 CCDC80,CCDC80 EXON Missense_N140K,Missense_N140K exm2033496 3 112358343 [T/C] NM_199512,NM_199511 CCDC80,CCDC80 EXON Missense_S137N,Missense_S137N exm337710 3 112358517 [C/G] NM_199512,NM_199511 CCDC80,CCDC80 EXON Missense_S79T,Missense_S79T exm337715 3 112358658 [T/C] NM_199512,NM_199511 CCDC80,CCDC80 EXON Missense_S32N,Missense_S32N exm337716 3 112358722 [T/C] NM_199512,NM_199511 CCDC80,CCDC80 EXON Missense_M11V,Missense_M11V exm2255607 3 112437047 [A/C] exm337726 3 112538691 [T/A] NM_001008784,NM_001199215 CD200R1L,CD200R1L EXON Missense_V244E,Missense_V223E exm-IND3-114028600 3 112545911 [I/D] NM_001008784,NM_001199215 CD200R1L,CD200R1L EXON exm2033509 3 112546020 [A/G] NM_001008784,NM_001199215 CD200R1L,CD200R1L EXON Missense_P167S,Missense_P146S exm337743 3 112546214 [T/C] NM_001008784,NM_001199215 CD200R1L,CD200R1L EXON Missense_V144I,Missense_V123I exm337745 3 112546303 [A/G] NM_001008784,NM_001199215 CD200R1L,CD200R1L EXON Missense_P114L,Missense_P93L exm337746 3 112546306 [A/C] NM_001008784,NM_001199215 CD200R1L,CD200R1L EXON Missense_R113L,Missense_R92L exm337748 3 112546327 [T/C] NM_001008784,NM_001199215 CD200R1L,CD200R1L EXON Missense_Q106R,Missense_Q85R exm337749 3 112546369 [T/C] NM_001008784,NM_001199215 CD200R1L,CD200R1L EXON Missense_N92S,Missense_N71S exm2238321 3 112546399 [T/C] NM_001008784,NM_001199215 CD200R1L,CD200R1L EXON Missense_K82R,Missense_K61R exm337756 3 112548167 [T/C] NM_001008784,NM_001199215 CD200R1L,CD200R1L EXON Synonymous_E37E,Synonymous_E16E exm337765 3 112642568 [G/C] NM_138806,NM_170780 CD200R1,CD200R1 EXON Missense_E335Q,Missense_E312Q exm337773 3 112643981 [T/C] NM_138806,NM_170780 CD200R1,CD200R1 EXON Missense_I277V,Missense_I254V exm337780 3 112647738 [A/G] NM_138806,NM_170780 CD200R1,CD200R1 EXON Missense_H232Y,Missense_H209Y exm337781 3 112647783 [T/C] NM_138806,NM_170780,NM_138940,NM_138939 CD200R1,CD200R1,CD200R1,CD200R1 EXON Missense_S217G,Missense_S194G,Silent,Silent exm337782 3 112647832 [A/C] NM_138806,NM_170780,NM_138940,NM_138939 CD200R1,CD200R1,CD200R1,CD200R1 EXON Missense_H200Q,Missense_H177Q,Silent,Silent exm337784 3 112647859 [G/C] NM_138806,NM_170780,NM_138940,NM_138939 CD200R1,CD200R1,CD200R1,CD200R1 EXON Missense_K191N,Missense_K168N,Silent,Silent exm2033523 3 112648144 [A/G] NM_138806,NM_170780,NM_138940,NM_138939 CD200R1,CD200R1,CD200R1,CD200R1 EXON Missense_S138L,Missense_S115L,Missense_S115L,Missense_S138L exm337810 3 112666718 [T/C] NM_138806,NM_170780,NM_138940,NM_138939 CD200R1,CD200R1,CD200R1,CD200R1 EXON Missense_E41K,Silent,Silent,Missense_E41K exm2033532 3 112693638 [T/C] NM_138806,NM_170780,NM_138940,NM_138939 CD200R1,CD200R1,CD200R1,CD200R1 EXON Missense_E23K,Missense_A23T,Missense_A23T,Missense_E23K exm337818 3 112693652 [A/G] NM_138806,NM_170780,NM_138940,NM_138939 CD200R1,CD200R1,CD200R1,CD200R1 EXON Missense_I18T,Missense_I18T,Missense_I18T,Missense_I18T exm2261357 3 112696331 [A/G] exm337826 3 112709932 [C/G] NM_014170,NM_138485 GTPBP8,GTPBP8 EXON Missense_T29R,Missense_T29R exm337827 3 112709964 [C/G] NM_014170,NM_138485 GTPBP8,GTPBP8 EXON Missense_P40A,Missense_P40A exm337832 3 112710000 [T/C] NM_014170,NM_138485 GTPBP8,GTPBP8 EXON Nonsense_Q52X,Nonsense_Q52X exm337836 3 112710048 [G/C] NM_014170,NM_138485 GTPBP8,GTPBP8 EXON Missense_L68V,Missense_L68V exm337848 3 112710145 [T/C] NM_014170,NM_138485 GTPBP8,GTPBP8 EXON Missense_V100A,Missense_V100A exm337855 3 112714106 [A/G] NM_014170,NM_138485 GTPBP8,GTPBP8 EXON Missense_R187Q,Missense_R154Q exm337862 3 112718352 [T/G] NM_014170,NM_138485 GTPBP8,GTPBP8 EXON Missense_Q242H,Missense_Q209H exm337874 3 112724471 [A/G] NR_027796,NR_027794,NM_015412 C3orf17,C3orf17,C3orf17 EXON Silent,Silent,Missense_T539M exm337879 3 112724619 [A/G] NR_027796,NR_027794,NM_015412 C3orf17,C3orf17,C3orf17 EXON Silent,Silent,Missense_S490P exm337883 3 112724658 [A/G] NR_027796,NR_027794,NM_015412 C3orf17,C3orf17,C3orf17 EXON Silent,Silent,Missense_R477W exm337884 3 112724661 [T/C] NR_027796,NR_027794,NM_015412 C3orf17,C3orf17,C3orf17 EXON Silent,Silent,Missense_T476A exm337885 3 112724693 [A/G] NR_027796,NR_027794,NM_015412 C3orf17,C3orf17,C3orf17 EXON Silent,Silent,Missense_L465P exm337893 3 112724817 [T/C] NR_027796,NR_027794,NM_015412 C3orf17,C3orf17,C3orf17 EXON Silent,Silent,Missense_I424V exm337895 3 112727040 [A/G] NR_027796,NR_027794,NM_015412 C3orf17,C3orf17,C3orf17 EXON Silent,Silent,Missense_H405Y exm337897 3 112727049 [A/G] NR_027796,NR_027794,NM_015412 C3orf17,C3orf17,C3orf17 EXON Silent,Silent,Missense_R402W exm337898 3 112727078 [A/G] NR_027796,NR_027794,NM_015412 C3orf17,C3orf17,C3orf17 EXON Silent,Silent,Missense_F392S exm337899 3 112727085 [T/C] NR_027796,NR_027794,NM_015412 C3orf17,C3orf17,C3orf17 EXON Silent,Silent,Missense_A390T exm337903 3 112727184 [A/T] NR_027796,NR_027794,NM_015412 C3orf17,C3orf17,C3orf17 EXON Silent,Silent,Missense_F357I exm337904 3 112727199 [A/G] NR_027796,NR_027794,NM_015412 C3orf17,C3orf17,C3orf17 EXON Silent,Silent,Missense_P352S exm337905 3 112727222 [T/G] NR_027796,NR_027794,NM_015412 C3orf17,C3orf17,C3orf17 EXON Silent,Silent,Missense_S344Y exm337916 3 112729916 [T/C] NR_027796,NR_027794,NM_015412 C3orf17,C3orf17,C3orf17 EXON Silent,Silent,Missense_V297I exm337918 3 112729934 [T/C] NR_027796,NR_027794,NM_015412 C3orf17,C3orf17,C3orf17 EXON Silent,Silent,Missense_V291M exm337921 3 112730047 [T/C] NR_027796,NR_027794,NM_015412 C3orf17,C3orf17,C3orf17 EXON Silent,Silent,Missense_K253R exm337924 3 112730186 [A/C] NR_027796,NR_027794,NM_015412 C3orf17,C3orf17,C3orf17 EXON Silent,Silent,Nonsense_E207X exm337925 3 112730204 [A/C] NR_027796,NR_027794,NM_015412 C3orf17,C3orf17,C3orf17 EXON Silent,Silent,Missense_L201V exm337945 3 112732840 [T/C] NR_027796,NR_027794,NM_015412 C3orf17,C3orf17,C3orf17 EXON Silent,Silent,Missense_E101K exm2033560 3 112736324 [A/G] NR_027796,NR_027794,NM_015412 C3orf17,C3orf17,C3orf17 EXON Silent,Silent,Missense_R78C exm337953 3 112736411 [T/C] NR_027796,NR_027794,NM_015412 C3orf17,C3orf17,C3orf17 EXON Silent,Silent,Missense_V49I exm337958 3 112738404 [A/G] NR_027796,NR_027794,NM_015412 C3orf17,C3orf17,C3orf17 EXON Silent,Silent,Missense_P31S exm337967 3 112738472 [A/C] NR_027796,NR_027794,NM_015412 C3orf17,C3orf17,C3orf17 EXON Silent,Silent,Missense_G8V exm2265490 3 112920299 [A/G] exm2033569 3 112968708 [A/G] NM_033254 BOC EXON Missense_C20Y exm337975 3 112969432 [T/C] NM_033254 BOC EXON Missense_A43V exm337984 3 112969612 [A/G] NM_033254 BOC EXON Missense_R103Q exm-rs4682479 3 112974641 [T/C] NM_033254 BOC Silent exm337997 3 112987262 [A/G] NM_033254 BOC EXON Missense_V165I exm338000 3 112987291 [A/C] NM_033254 BOC EXON Missense_R174S exm338018 3 112991313 [A/G] NM_033254 BOC EXON Missense_V242I exm338019 3 112991329 [A/G] NM_033254 BOC EXON Missense_S247N exm2033584 3 112991397 [A/C] NM_033254 BOC EXON Missense_S270R exm338022 3 112991404 [A/C] NM_033254 BOC EXON Missense_T272N exm338030 3 112991481 [T/C] NM_033254 BOC EXON Missense_R298C exm338034 3 112991493 [A/G] NM_033254 BOC EXON Missense_D302N exm338036 3 112991514 [A/G] NM_033254 BOC EXON Missense_G309R exm338040 3 112991985 [A/G] NM_033254 BOC EXON Missense_C344Y exm338046 3 112992051 [A/G] NM_033254 BOC EXON Missense_S366N exm338047 3 112992056 [T/C] NM_033254 BOC EXON Missense_R368C exm338058 3 112992116 [A/G] NM_033254 BOC EXON Missense_V388I exm338061 3 112992140 [G/C] NM_033254 BOC EXON Missense_E396Q exm338066 3 112993223 [T/C] NM_033254 BOC EXON Synonymous_S412S exm338070 3 112993293 [A/G] NM_033254 BOC EXON Missense_G436S exm2255608 3 112993367 [A/G] NM_033254 BOC EXON Synonymous_P460P exm338081 3 112993456 [T/A] NM_033254 BOC EXON Missense_E490V exm338082 3 112993467 [T/C] NM_033254 BOC EXON Missense_R494W exm338087 3 112993492 [A/G] NM_033254 BOC EXON Missense_R502Q exm2275688 3 112997000 [A/G] NM_033254 BOC EXON Missense_R533H exm338112 3 112998254 [A/G] NM_033254 BOC EXON Missense_A658T exm338127 3 112998761 [A/C] NM_033254 BOC EXON Missense_Y704S exm338136 3 112998815 [A/G] NM_033254 BOC EXON Missense_D722G exm338140 3 112999430 [A/C] NM_033254 BOC EXON Missense_T743N exm2255609 3 112999960 [A/G] NM_033254 BOC EXON Synonymous_G797G exm338151 3 113002261 [A/G] NM_033254 BOC EXON Missense_R812Q exm338155 3 113002309 [G/C] NM_033254 BOC EXON Missense_P828R exm338158 3 113002342 [A/G] NM_033254 BOC EXON Missense_R839Q exm338159 3 113002344 [T/C] NM_033254 BOC EXON Missense_P840S exm338160 3 113002345 [G/C] NM_033254 BOC EXON Missense_P840R exm338170 3 113002475 [C/G] NM_033254 BOC EXON Missense_K883N exm338175 3 113003262 [T/C] NM_033254 BOC EXON Missense_P912S exm338177 3 113003273 [T/G] NM_033254 BOC EXON Missense_Q915H exm338187 3 113004235 [T/C] NM_033254 BOC EXON Missense_P994S exm338210 3 113010544 [T/C] NM_001164496 WDR52 EXON Missense_V1809I exm338214 3 113015660 [A/G] NM_001164496 WDR52 EXON Missense_T1717M exm338215 3 113015687 [T/C] NM_001164496 WDR52 EXON Missense_R1708H exm338218 3 113022870 [T/C] NM_001164496 WDR52 EXON Missense_H1657R exm338219 3 113022889 [A/G] NM_001164496 WDR52 EXON Missense_R1651W exm338230 3 113045325 [A/G] NM_001164496 WDR52 EXON Missense_R1495W exm338240 3 113049189 [T/A] NM_001164496 WDR52 EXON Missense_D1314E exm338243 3 113049270 [T/G] NM_001164496 WDR52 EXON Missense_K1287N exm338246 3 113049376 [T/G] NM_001164496 WDR52 EXON Missense_P1252H exm338251 3 113052314 [C/G] NM_001164496 WDR52 EXON Missense_P1185R exm338255 3 113063449 [T/C] NM_001164496 WDR52 EXON Missense_R1059Q exm338261 3 113082086 [T/C] NM_001164496,NM_018338 WDR52,WDR52 EXON Missense_R947Q,Missense_R947Q exm338268 3 113084927 [T/C] NM_001164496,NM_018338 WDR52,WDR52 EXON Missense_M892V,Missense_M892V exm338269 3 113084989 [T/C] NM_001164496,NM_018338 WDR52,WDR52 EXON Missense_R871H,Missense_R871H exm338273 3 113085143 [T/C] NM_001164496,NM_018338 WDR52,WDR52 EXON Missense_M820V,Missense_M820V exm338276 3 113092306 [T/C] NM_001164496,NM_018338 WDR52,WDR52 EXON Missense_R799H,Missense_R799H exm338280 3 113092365 [T/G] NM_001164496,NM_018338 WDR52,WDR52 EXON Missense_F779L,Missense_F779L exm2033645 3 113115376 [G/C] NM_001164496,NM_018338 WDR52,WDR52 EXON Missense_L590V,Missense_L590V exm338297 3 113115480 [A/G] NM_001164496,NM_018338 WDR52,WDR52 EXON Missense_A555V,Missense_A555V exm338299 3 113115543 [C/G] NM_001164496,NM_018338 WDR52,WDR52 EXON Missense_G534A,Missense_G534A exm338303 3 113115559 [T/C] NM_001164496,NM_018338 WDR52,WDR52 EXON Missense_A529T,Missense_A529T exm338310 3 113118798 [T/C] NM_001164496,NM_018338 WDR52,WDR52 EXON Missense_M508I,Missense_M508I exm338312 3 113118838 [T/C] NM_001164496,NM_018338 WDR52,WDR52 EXON Missense_R495Q,Missense_R495Q exm338313 3 113118847 [A/C] NM_001164496,NM_018338 WDR52,WDR52 EXON Missense_C492F,Missense_C492F exm338315 3 113119409 [A/G] NM_001164496,NM_018338 WDR52,WDR52 EXON Missense_A486V,Missense_A486V exm338318 3 113119440 [T/C] NM_001164496,NM_018338 WDR52,WDR52 EXON Missense_V476M,Missense_V476M exm338322 3 113120127 [T/C] NM_001164496,NM_018338 WDR52,WDR52 EXON Missense_N445S,Missense_N445S exm338331 3 113122712 [T/C] NM_001164496,NM_018338 WDR52,WDR52 EXON Missense_D386G,Missense_D386G exm338334 3 113122781 [T/C] NM_001164496,NM_018338 WDR52,WDR52 EXON Missense_K363R,Missense_K363R exm338340 3 113127991 [A/C] NM_001164496,NM_018338,NR_046728 WDR52,WDR52,WDR52-AS1 EXON Missense_K284N,Missense_K284N,Silent exm338342 3 113128048 [T/C] NM_001164496,NM_018338,NR_046728 WDR52,WDR52,WDR52-AS1 EXON Missense_I265M,Missense_I265M,Silent exm338354 3 113139004 [T/C] NM_001164496,NM_018338,NR_046728 WDR52,WDR52,WDR52-AS1 EXON Missense_R144G,Missense_R144G,Silent exm338366 3 113145118 [T/A] NM_001164496,NM_018338,NR_046728 WDR52,WDR52,WDR52-AS1 EXON Missense_Q87L,Missense_Q87L,Silent exm338367 3 113145119 [A/G] NM_001164496,NM_018338,NR_046728 WDR52,WDR52,WDR52-AS1 EXON Nonsense_Q87X,Nonsense_Q87X,Silent exm338371 3 113146130 [T/C] NM_001164496,NM_018338,NR_046728 WDR52,WDR52,WDR52-AS1 EXON Missense_K53E,Missense_K53E,Silent exm338378 3 113164170 [G/C] NM_144718 SPICE1 EXON Missense_S851C exm338382 3 113165480 [T/G] NM_144718 SPICE1 EXON Missense_T824P exm338384 3 113165488 [A/C] NM_144718 SPICE1 EXON Missense_L821R exm338385 3 113165516 [T/C] NM_144718 SPICE1 EXON Missense_G812R exm338410 3 113172420 [A/T] NM_144718 SPICE1 EXON Missense_N679Y exm338414 3 113172548 [T/G] NM_144718 SPICE1 EXON Missense_Q636P exm338423 3 113172687 [T/C] NM_144718 SPICE1 EXON Missense_I590V exm338427 3 113175984 [A/G] NM_144718 SPICE1 EXON Synonymous_D552D exm338429 3 113176009 [T/G] NM_144718 SPICE1 EXON Missense_N544T exm338436 3 113179485 [T/C] NM_144718 SPICE1 EXON Missense_R472G exm338437 3 113179497 [T/C] NM_144718 SPICE1 EXON Missense_G468R exm338440 3 113179581 [C/G] NM_144718 SPICE1 EXON Missense_D440H exm338443 3 113184511 [T/C] NM_144718 SPICE1 EXON Missense_A426T exm338453 3 113187144 [T/C] NM_144718 SPICE1 EXON Missense_V333I exm338457 3 113187648 [T/C] NM_144718 SPICE1 EXON Missense_V284M exm338459 3 113187675 [C/G] NM_144718 SPICE1 EXON Missense_L275V exm338464 3 113187981 [A/G] NM_144718 SPICE1 EXON Missense_T239M exm338472 3 113207804 [A/G] NM_144718 SPICE1 EXON Missense_T200M exm2033703 3 113212106 [T/C] NM_144718 SPICE1 EXON Missense_N147D exm338478 3 113212111 [A/G] NM_144718 SPICE1 EXON Missense_V145A exm338480 3 113212970 [T/C] NM_144718 SPICE1 EXON Missense_Q104R exm338481 3 113212974 [A/G] NM_144718 SPICE1 EXON Missense_Y103H exm338508 3 113251977 [A/C] NM_017699 SIDT1 EXON Missense_R37S exm338520 3 113285276 [A/G] NM_017699 SIDT1 EXON Missense_V78M exm338526 3 113285388 [T/G] NM_017699 SIDT1 EXON Missense_L115R exm338539 3 113286556 [T/C] NM_017699 SIDT1 EXON Missense_R172W exm338540 3 113286557 [A/G] NM_017699 SIDT1 EXON Missense_R172Q exm338544 3 113299528 [A/G] NM_017699 SIDT1 EXON Missense_C212Y exm338563 3 113303548 [A/G] NM_017699 SIDT1 EXON Missense_K280R exm338564 3 113303574 [T/C] NM_017699 SIDT1 EXON Nonsense_R289X exm338577 3 113311894 [T/C] NM_017699 SIDT1 EXON Synonymous_D348D exm338581 3 113320477 [T/C] NM_017699 SIDT1 EXON Missense_T363I exm338585 3 113320497 [A/G] NM_017699 SIDT1 EXON Missense_G370R exm2273956 3 113321950 [A/G] NM_017699 SIDT1 EXON Missense_D406N exm338598 3 113323755 [A/G] NM_017699 SIDT1 Silent exm338608 3 113325954 [A/G] NM_017699 SIDT1 EXON Missense_V491I exm338609 3 113326943 [T/C] NM_017699 SIDT1 EXON Missense_A494V exm338611 3 113327011 [T/C] NM_017699 SIDT1 EXON Missense_R517C exm338613 3 113327015 [A/G] NM_017699 SIDT1 EXON Missense_R518H exm338615 3 113327030 [A/G] NM_017699 SIDT1 EXON Missense_R523Q exm338625 3 113327342 [G/C] NM_017699 SIDT1 EXON Missense_A560G exm338627 3 113327382 [T/C] NM_017699 SIDT1 EXON Synonymous_F573F exm338635 3 113329939 [A/G] NM_017699 SIDT1 EXON Missense_Y602C exm338639 3 113330934 [T/C] NM_017699 SIDT1 EXON Missense_V620A exm338640 3 113330949 [A/T] NM_017699 SIDT1 EXON Missense_D625V exm338643 3 113330976 [T/C] NM_017699 SIDT1 EXON Missense_A634V exm338645 3 113330984 [A/G] NM_017699 SIDT1 EXON Missense_V637I exm338646 3 113331030 [A/G] NM_017699 SIDT1 EXON Missense_R652H exm2238343 3 113331039 [T/C] NM_017699 SIDT1 EXON Missense_I655T exm2033765 3 113342281 [T/C] NM_017699 SIDT1 EXON Missense_F700L exm338653 3 113342318 [A/G] NM_017699 SIDT1 EXON Missense_Y712C exm338655 3 113342349 [C/G] NM_017699 SIDT1 EXON Missense_L722F exm338656 3 113342473 [T/C] NM_017699 SIDT1 EXON Missense_R734C exm338662 3 113344949 [A/G] NM_017699 SIDT1 EXON Missense_G770R exm338665 3 113344961 [A/G] NM_017699 SIDT1 EXON Missense_E774K exm338677 3 113373930 [A/G] NM_001009899 KIAA2018 EXON Missense_V2200A exm338705 3 113374627 [A/G] NM_001009899 KIAA2018 EXON Missense_R1968C exm338706 3 113374633 [A/C] NM_001009899 KIAA2018 EXON Missense_A1966S exm338714 3 113374831 [T/A] NM_001009899 KIAA2018 EXON Missense_S1900T exm338728 3 113375077 [T/C] NM_001009899 KIAA2018 EXON Missense_S1818G exm338729 3 113375167 [A/G] NM_001009899 KIAA2018 EXON Missense_R1788C exm338732 3 113375226 [T/C] NM_001009899 KIAA2018 EXON Missense_R1768Q exm338734 3 113375251 [T/C] NM_001009899 KIAA2018 EXON Missense_I1760V exm338738 3 113375341 [A/G] NM_001009899 KIAA2018 EXON Missense_R1730C exm2033793 3 113375764 [A/G] NM_001009899 KIAA2018 EXON Missense_H1589Y exm338751 3 113375772 [T/C] NM_001009899 KIAA2018 EXON Missense_R1586Q exm338755 3 113375867 [G/C] NM_001009899 KIAA2018 EXON Missense_Q1554H exm338766 3 113376139 [T/G] NM_001009899 KIAA2018 EXON Missense_Q1464K exm338768 3 113376159 [A/T] NM_001009899 KIAA2018 EXON Missense_H1457L exm338773 3 113376342 [T/C] NM_001009899 KIAA2018 EXON Missense_D1396G exm338780 3 113376484 [A/G] NM_001009899 KIAA2018 EXON Missense_P1349S exm338799 3 113377150 [A/C] NM_001009899 KIAA2018 EXON Missense_V1127L exm338801 3 113377207 [T/C] NM_001009899 KIAA2018 EXON Missense_T1108A exm338807 3 113377290 [T/C] NM_001009899 KIAA2018 EXON Missense_N1080S exm338809 3 113377338 [T/C] NM_001009899 KIAA2018 EXON Missense_H1064R exm338822 3 113377701 [A/C] NM_001009899 KIAA2018 EXON Missense_V943G exm338826 3 113377819 [T/C] NM_001009899 KIAA2018 EXON Missense_M904V exm338829 3 113377828 [A/G] NM_001009899 KIAA2018 EXON Missense_H901Y exm338834 3 113377917 [T/C] NM_001009899 KIAA2018 EXON Missense_S871N exm338852 3 113378472 [A/G] NM_001009899 KIAA2018 EXON Missense_T686I exm338854 3 113378554 [C/G] NM_001009899 KIAA2018 EXON Missense_Q659E exm338861 3 113378610 [A/G] NM_001009899 KIAA2018 EXON Missense_P640L exm2033810 3 113379520 [C/G] NM_001009899 KIAA2018 EXON Missense_V337L exm338885 3 113379544 [T/C] NM_001009899 KIAA2018 EXON Missense_G329S exm338886 3 113379585 [T/C] NM_001009899 KIAA2018 EXON Missense_H315R exm338889 3 113379720 [A/G] NM_001009899 KIAA2018 EXON Missense_S270F exm338897 3 113379865 [C/G] NM_001009899 KIAA2018 EXON Missense_P222A exm338898 3 113379907 [A/G] NM_001009899 KIAA2018 EXON Missense_P208S exm338899 3 113380031 [A/C] NM_001009899 KIAA2018 EXON Missense_Q166H exm338913 3 113388970 [C/G] NM_001009899 KIAA2018 EXON Missense_Q53E exm338917 3 113440653 [T/C] NM_025146 NAA50 EXON Missense_K155R exm338922 3 113441818 [T/C] NM_025146 NAA50 EXON Synonymous_G89G exm338945 3 113503269 [T/C] NM_001690 ATP6V1A EXON Missense_P137L exm338951 3 113505110 [T/C] NM_001690 ATP6V1A EXON Missense_V199A exm338989 3 113557770 [T/C] NM_017577 GRAMD1C EXON Missense_P5L exm339000 3 113563381 [T/C] NM_017577 GRAMD1C EXON Missense_T20I exm2269509 3 113586776 [T/C] NM_017577 GRAMD1C Silent exm339014 3 113595063 [T/C] NM_017577 GRAMD1C EXON Nonsense_R139X exm339024 3 113619952 [G/C] NM_017577,NM_001172105 GRAMD1C,GRAMD1C EXON Missense_E205D,Silent exm339027 3 113619994 [T/G] NM_017577,NM_001172105 GRAMD1C,GRAMD1C Silent,Silent exm339033 3 113627859 [T/C] NM_017577,NM_001172105 GRAMD1C,GRAMD1C EXON Missense_P282S,Missense_P77S exm339038 3 113634682 [A/C] NM_017577,NM_001172105 GRAMD1C,GRAMD1C EXON Missense_I363L,Missense_I158L exm339040 3 113649612 [T/C] NM_017577,NM_001172105 GRAMD1C,GRAMD1C EXON Missense_T381M,Missense_T176M exm339045 3 113652367 [A/G] NM_017577,NM_001172105 GRAMD1C,GRAMD1C EXON Missense_K407E,Missense_K202E exm339051 3 113652451 [A/G] NM_017577,NM_001172105 GRAMD1C,GRAMD1C EXON Missense_V435M,Missense_V230M exm339054 3 113653278 [A/G] NM_017577,NM_001172105 GRAMD1C,GRAMD1C Silent,Silent exm339070 3 113656945 [A/C] NM_017577,NM_001172105 GRAMD1C,GRAMD1C EXON Missense_E549A,Missense_E344A exm339071 3 113656962 [A/G] NM_017577,NM_001172105 GRAMD1C,GRAMD1C EXON Missense_V555I,Missense_V350I exm339074 3 113656977 [G/C] NM_017577,NM_001172105 GRAMD1C,GRAMD1C EXON Missense_V560L,Missense_V355L exm339081 3 113659100 [A/G] NM_017577,NM_001172105 GRAMD1C,GRAMD1C EXON Missense_M606V,Missense_M401V exm339083 3 113659148 [C/G] NM_017577,NM_001172105 GRAMD1C,GRAMD1C EXON Missense_R622G,Missense_R417G exm339085 3 113664291 [A/G] NM_017577,NM_001172105 GRAMD1C,GRAMD1C EXON Missense_N652S,Missense_N447S exm339087 3 113664322 [G/C] NM_017577,NM_001172105 GRAMD1C,GRAMD1C EXON Missense_S662R,Missense_S457R exm2238348 3 113666020 [C/G] NM_017577,NM_001172105 GRAMD1C,GRAMD1C EXON Silent,Silent exm339090 3 113667642 [T/C] NM_173570 ZDHHC23 EXON Silent exm339094 3 113667767 [A/G] NM_173570 ZDHHC23 EXON Missense_T40A exm339105 3 113672799 [A/C] NM_173570 ZDHHC23 EXON Synonymous_T138T exm2255613 3 113672799 [A/C] NM_173570 ZDHHC23 EXON Synonymous_T138T exm339109 3 113672878 [T/C] NM_173570 ZDHHC23 EXON Missense_R165C exm339110 3 113672879 [A/G] NM_173570 ZDHHC23 EXON Missense_R165H exm2255614 3 113672982 [A/G] NM_173570 ZDHHC23 EXON Synonymous_A199A exm339113 3 113672982 [A/G] NM_173570 ZDHHC23 EXON Synonymous_A199A exm2033912 3 113673097 [A/G] NM_173570 ZDHHC23 EXON Missense_T238A exm339120 3 113673125 [A/G] NM_173570 ZDHHC23 EXON Missense_K247R exm339129 3 113675310 [T/G] NM_173570 ZDHHC23 EXON Missense_F333V exm339130 3 113675346 [A/G] NM_173570 ZDHHC23 EXON Missense_N345D exm339153 3 113684061 [T/C] NM_020817 KIAA1407 EXON Missense_E918K exm339157 3 113684133 [T/C] NM_020817 KIAA1407 EXON Missense_E894K exm339159 3 113684183 [T/C] NM_020817 KIAA1407 EXON Missense_R877Q exm339163 3 113697048 [A/G] NM_020817 KIAA1407 EXON Missense_A864V exm2033934 3 113697072 [A/G] NM_020817 KIAA1407 EXON Missense_S856F exm2033935 3 113697179 [A/C] NM_020817 KIAA1407 Silent exm339172 3 113697743 [C/G] NM_020817 KIAA1407 EXON Missense_Q808E exm339174 3 113697749 [A/C] NM_020817 KIAA1407 EXON Missense_Y806D exm339179 3 113699534 [T/C] NM_020817 KIAA1407 EXON Nonsense_W757X exm339181 3 113699546 [A/C] NM_020817 KIAA1407 EXON Missense_G753V exm339185 3 113699599 [G/C] NM_020817 KIAA1407 EXON Missense_Q735H exm339192 3 113721317 [G/C] NM_020817 KIAA1407 EXON Missense_E683Q exm339195 3 113721352 [T/C] NM_020817 KIAA1407 EXON Missense_C671Y exm339216 3 113724586 [A/G] NM_020817 KIAA1407 EXON Missense_P546L exm339225 3 113729789 [T/C] NM_020817 KIAA1407 EXON Missense_A415T exm339226 3 113729825 [A/G] NM_020817 KIAA1407 EXON Nonsense_R403X exm339227 3 113729839 [T/C] NM_020817 KIAA1407 EXON Missense_R398Q exm2238354 3 113737559 [A/G] NM_020817 KIAA1407 EXON Nonsense_Q377X exm339231 3 113737567 [T/C] NM_020817 KIAA1407 EXON Missense_R374Q exm339232 3 113737568 [A/G] NM_020817 KIAA1407 EXON Missense_R374W exm2033962 3 113750534 [A/C] NM_020817 KIAA1407 EXON Missense_V304G exm339245 3 113753890 [A/C] NM_020817 KIAA1407 EXON Nonsense_E234X exm339247 3 113753910 [A/G] NM_020817 KIAA1407 EXON Missense_A227V exm339249 3 113753937 [A/G] NM_020817 KIAA1407 EXON Missense_T218I exm339250 3 113753949 [A/C] NM_020817 KIAA1407 EXON Missense_R214I exm339254 3 113755488 [T/A] NM_020817 KIAA1407 EXON Missense_D187E exm2275689 3 113755502 [T/C] NM_020817 KIAA1407 EXON Missense_K183E exm2033967 3 113755549 [T/C] NM_020817 KIAA1407 EXON Missense_D167G exm339266 3 113765459 [T/G] NM_020817 KIAA1407 EXON Missense_H84N exm339270 3 113772448 [A/G] NM_020817 KIAA1407 EXON Missense_I42T exm339278 3 113775306 [A/G] NM_020817 KIAA1407 EXON Missense_L3P exm339286 3 113784270 [T/G] NM_024638,NM_001256837,NM_001256835,NM_001256836 QTRTD1,QTRTD1,QTRTD1,QTRTD1 EXON Missense_V56F,Silent,Missense_V68F,Silent exm339300 3 113789591 [A/G] NM_024638,NM_001256837,NM_001256835,NM_001256836 QTRTD1,QTRTD1,QTRTD1,QTRTD1 EXON Missense_C151Y,Missense_C28Y,Missense_C163Y,Missense_C45Y exm339319 3 113798773 [A/G] NM_024638,NM_001256837,NM_001256835,NM_001256836 QTRTD1,QTRTD1,QTRTD1,QTRTD1 EXON Missense_R256Q,Missense_R133Q,Missense_R268Q,Missense_R150Q exm339323 3 113798847 [A/G] NM_024638,NM_001256837,NM_001256835,NM_001256836 QTRTD1,QTRTD1,QTRTD1,QTRTD1 EXON Missense_E281K,Missense_E158K,Missense_E293K,Missense_E175K exm339341 3 113804708 [A/G] NM_024638,NM_001256837,NM_001256835,NM_001256836 QTRTD1,QTRTD1,QTRTD1,QTRTD1 EXON Missense_K402R,Missense_K279R,Missense_K414R,Missense_K296R exm2265491 3 113842013 [A/G] exm339344 3 113847646 [T/C] NM_000796,NM_033663 DRD3,DRD3 EXON Missense_V374M,Missense_V341M exm339359 3 113850123 [T/C] NM_000796,NM_033663 DRD3,DRD3 EXON Missense_R283Q,Missense_R283Q exm339367 3 113858379 [T/A] NM_000796,NM_033663 DRD3,DRD3 EXON Missense_C231S,Missense_C231S exm339369 3 113858429 [A/G] NM_000796,NM_033663 DRD3,DRD3 EXON Missense_V214A,Missense_V214A exm339372 3 113866337 [T/C] NM_000796,NM_033663 DRD3,DRD3 EXON Missense_A151T,Missense_A151T exm339378 3 113866384 [T/G] NM_000796,NM_033663 DRD3,DRD3 EXON Missense_P135H,Missense_P135H exm2261358 3 113876275 [A/G] NM_000796,NM_033663 DRD3,DRD3 Silent,Silent exm339386 3 113890685 [A/G] NM_000796,NM_033663 DRD3,DRD3 EXON Missense_M52T,Missense_M52T exm339392 3 113890728 [T/C] NM_000796,NM_033663 DRD3,DRD3 EXON Missense_A38T,Missense_A38T exm339400 3 113890815 [T/C] NM_000796,NM_033663 DRD3,DRD3 EXON Missense_G9S,Missense_G9S exm2238360 3 113953480 [T/G] NM_007136 ZNF80 EXON Silent exm339408 3 113955187 [A/C] NM_007136 ZNF80 EXON Nonsense_Y245X exm339413 3 113955320 [T/C] NM_007136 ZNF80 EXON Missense_R201H exm339417 3 113955366 [T/C] NM_007136 ZNF80 EXON Missense_E186K exm2255616 3 113955367 [T/G] NM_007136 ZNF80 EXON Synonymous_G185G exm339419 3 113955389 [A/C] NM_007136 ZNF80 EXON Missense_R178L exm339423 3 113955489 [A/G] NM_007136 ZNF80 EXON Missense_H145Y exm339433 3 113955612 [A/G] NM_007136 ZNF80 EXON Missense_P104S exm339443 3 113955726 [A/G] NM_007136 ZNF80 EXON Nonsense_R66X exm339444 3 113955753 [T/C] NM_007136 ZNF80 EXON Missense_V57M exm339451 3 113955890 [T/C] NM_007136 ZNF80 EXON Missense_G11D exm339453 3 113955906 [T/C] NM_007136 ZNF80 EXON Missense_D6N exm339456 3 114012913 [A/G] NM_173799 TIGIT EXON Missense_R2H exm339463 3 114014427 [A/G] NM_173799 TIGIT EXON Missense_I33V exm339464 3 114014429 [T/G] NM_173799 TIGIT EXON Missense_I33M exm339471 3 114014575 [A/T] NM_173799 TIGIT EXON Missense_K82M exm2034048 3 114018469 [T/G] NM_173799 TIGIT EXON Missense_Q139H exm339486 3 114018536 [A/G] NM_173799 TIGIT EXON Missense_A162T exm339488 3 114018543 [A/C] NM_173799 TIGIT EXON Missense_T164N exm339491 3 114026923 [A/G] NM_173799 TIGIT EXON Missense_N227S exm339492 3 114026974 [A/G] NM_173799 TIGIT EXON Missense_G244D exm339508 3 114058000 [A/G] NM_001164343,NM_001164346,NM_001164342,NM_001164345,NM_001164347,NM_001164344,NM_015642 ZBTB20,ZBTB20,ZBTB20,ZBTB20,ZBTB20,ZBTB20,ZBTB20 EXON Missense_A620V,Missense_A620V,Missense_A693V,Missense_A620V,Missense_A620V,Missense_A620V,Missense_A620V exm339539 3 114069607 [T/C] NM_001164343,NM_001164346,NM_001164342,NM_001164345,NM_001164347,NM_001164344,NM_015642 ZBTB20,ZBTB20,ZBTB20,ZBTB20,ZBTB20,ZBTB20,ZBTB20 EXON Missense_E367K,Missense_E367K,Missense_E440K,Missense_E367K,Missense_E367K,Missense_E367K,Missense_E367K exm339542 3 114069675 [C/G] NM_001164343,NM_001164346,NM_001164342,NM_001164345,NM_001164347,NM_001164344,NM_015642 ZBTB20,ZBTB20,ZBTB20,ZBTB20,ZBTB20,ZBTB20,ZBTB20 EXON Missense_A344G,Missense_A344G,Missense_A417G,Missense_A344G,Missense_A344G,Missense_A344G,Missense_A344G exm339563 3 114099109 [T/C] NM_001164343,NM_001164346,NM_001164342,NM_001164345,NM_001164347,NM_001164344,NM_015642,NR_038993 ZBTB20,ZBTB20,ZBTB20,ZBTB20,ZBTB20,ZBTB20,ZBTB20,ZBTB20-AS1 EXON Silent,Silent,Missense_T52A,Silent,Silent,Silent,Silent,Silent exm-rs6438208 3 114170272 [A/G] NM_001164343,NM_001164346,NM_001164345,NM_001164347,NM_001164344,NM_015642 ZBTB20,ZBTB20,ZBTB20,ZBTB20,ZBTB20,ZBTB20 Silent,Silent,Silent,Silent,Silent,Silent exm2269658 3 114511356 [T/C] NM_001164343,NM_015642 ZBTB20,ZBTB20 Silent,Silent exm2265613 3 115155648 [A/G] exm2269511 3 115340900 [T/C] exm339594 3 115394860 [T/G] NM_002045,NM_001130064 GAP43,GAP43 EXON Missense_V11F,Missense_V47F exm339617 3 115395370 [A/C] NM_002045,NM_001130064 GAP43,GAP43 EXON Missense_T181P,Missense_T217P exm339625 3 115439686 [A/C] NM_002045,NM_001130064 GAP43,GAP43 EXON Missense_E225A,Missense_E261A exm2034095 3 115439697 [T/G] NM_002045,NM_001130064 GAP43,GAP43 EXON Nonsense_E229X,Nonsense_E265X exm339644 3 115561339 [T/C] NM_002338 LSAMP EXON Missense_A246T exm2269659 3 115965648 [T/C] NM_002338 LSAMP Silent exm339658 3 116163812 [T/G] NM_002338 LSAMP EXON Missense_L23I exm2269512 3 116269592 [T/C] exm2269660 3 117084425 [T/C] exm-rs1676232 3 117234839 [A/G] exm-rs1875517 3 117307567 [A/G] exm2269513 3 117340316 [T/C] exm2265614 3 117349754 [A/G] exm-rs6438424 3 117574822 [A/C] exm2265493 3 117740707 [A/G] exm2269514 3 118356071 [T/C] exm2269661 3 118581688 [T/C] exm339660 3 118621387 [A/G] NM_152538,NM_001015887 IGSF11,IGSF11 EXON Missense_R425W,Missense_R426W exm339668 3 118621500 [T/C] NM_152538,NM_001015887 IGSF11,IGSF11 EXON Missense_S387N,Missense_S388N exm339676 3 118621664 [A/C] NM_152538,NM_001015887 IGSF11,IGSF11 EXON Missense_E332D,Missense_E333D exm339680 3 118621746 [A/G] NM_152538,NM_001015887 IGSF11,IGSF11 EXON Missense_S305L,Missense_S306L exm339687 3 118623547 [A/G] NM_152538,NM_001015887 IGSF11,IGSF11 EXON Missense_W267R,Missense_W268R exm339688 3 118623559 [T/C] NM_152538,NM_001015887 IGSF11,IGSF11 EXON Missense_A263T,Missense_A264T exm339689 3 118623592 [T/C] NM_152538,NM_001015887 IGSF11,IGSF11 EXON Missense_I252V,Missense_I253V exm339692 3 118624560 [T/C] NM_152538,NM_001015887 IGSF11,IGSF11 EXON Missense_V195I,Missense_V196I exm339693 3 118644960 [T/C] NM_152538,NM_001015887 IGSF11,IGSF11 EXON Missense_T189A,Missense_T190A exm339697 3 118645038 [A/G] NM_152538,NM_001015887 IGSF11,IGSF11 EXON Missense_L163F,Missense_L164F exm2238372 3 118647391 [T/C] NM_152538,NM_001015887 IGSF11,IGSF11 EXON Missense_G129D,Missense_G130D exm339705 3 118647520 [T/C] NM_152538,NM_001015887 IGSF11,IGSF11 EXON Missense_R86Q,Missense_R87Q exm339708 3 118649018 [T/C] NM_152538,NM_001015887 IGSF11,IGSF11 EXON Missense_I52V,Missense_I53V exm2269515 3 118840453 [T/C] NM_152538 IGSF11 Silent exm339718 3 118864997 [A/G] NM_152539 C3orf30 EXON Silent exm339721 3 118865140 [A/G] NM_152539 C3orf30 EXON Missense_Q35R exm339723 3 118865224 [T/C] NM_152539 C3orf30 EXON Missense_A63V exm2034160 3 118865247 [C/G] NM_152539 C3orf30 EXON Missense_A71P exm339725 3 118865290 [A/G] NM_152539 C3orf30 EXON Missense_G85D exm339727 3 118865332 [A/G] NM_152539 C3orf30 EXON Missense_D99G exm2034162 3 118865479 [A/G] NM_152539 C3orf30 EXON Missense_R148Q exm339735 3 118865581 [T/C] NM_152539 C3orf30 EXON Missense_M182T exm339738 3 118865615 [G/C] NM_152539 C3orf30 EXON Missense_Q193H exm339739 3 118865618 [A/G] NM_152539 C3orf30 EXON Missense_M194I exm339740 3 118865621 [A/C] NM_152539 C3orf30 EXON Missense_D195E exm339742 3 118865623 [A/G] NM_152539 C3orf30 EXON Missense_R196H exm339752 3 118865730 [A/G] NM_152539 C3orf30 EXON Missense_V232I exm339758 3 118865806 [A/G] NM_152539 C3orf30 EXON Missense_Q257R exm339759 3 118865815 [A/G] NM_152539 C3orf30 EXON Missense_R260H exm339761 3 118865844 [A/T] NM_152539 C3orf30 EXON Missense_S270C exm339767 3 118865929 [T/C] NM_152539 C3orf30 EXON Missense_V298A exm339771 3 118865970 [A/G] NM_152539 C3orf30 EXON Missense_G312S exm339774 3 118866003 [A/G] NM_152539 C3orf30 EXON Missense_I323V exm339782 3 118866133 [A/G] NM_152539 C3orf30 EXON Missense_R366H exm339784 3 118866199 [A/G] NM_152539 C3orf30 EXON Missense_Y388C exm339790 3 118866376 [T/C] NM_152539 C3orf30 EXON Missense_S447L exm339791 3 118866405 [A/G] NM_152539 C3orf30 EXON Missense_E457K exm339793 3 118866414 [A/C] NM_152539 C3orf30 EXON Missense_Q460K exm339794 3 118867036 [T/C] NM_152539 C3orf30 EXON Missense_S470P exm339796 3 118867047 [C/G] NM_152539 C3orf30 EXON Missense_D473E exm339797 3 118867055 [A/T] NM_152539 C3orf30 EXON Missense_K476M exm339798 3 118867069 [T/C] NM_152539 C3orf30 EXON Missense_R481C exm2034177 3 118905562 [A/G] NM_006952 UPK1B EXON Silent exm2034179 3 118905614 [A/G] NM_006952 UPK1B EXON Missense_R9H exm339809 3 118906638 [T/A] NM_006952 UPK1B EXON Missense_L29Q exm2238377 3 118906757 [G/C] NM_006952 UPK1B EXON Missense_L69V exm339815 3 118906791 [A/T] NM_006952 UPK1B EXON Missense_I80N exm339819 3 118906822 [A/G] NM_006952 UPK1B EXON Synonymous_A90A exm339823 3 118909159 [A/G] NM_006952 UPK1B EXON Missense_Q113R exm339825 3 118909892 [A/G] NM_006952 UPK1B EXON Missense_N137D exm339831 3 118913124 [A/G] NM_006952 UPK1B EXON Missense_R176Q exm339832 3 118913160 [A/G] NM_006952 UPK1B EXON Missense_R188H exm339838 3 118913242 [T/G] NM_006952 UPK1B EXON Missense_N215K exm339847 3 118931401 [A/C] NM_003778,NM_212543 B4GALT4,B4GALT4 EXON Missense_A344S,Missense_A344S exm339848 3 118931403 [T/C] NM_003778,NM_212543 B4GALT4,B4GALT4 EXON Missense_G343D,Missense_G343D exm339867 3 118942956 [A/C] NM_003778,NM_212543 B4GALT4,B4GALT4 EXON Missense_C208F,Missense_C208F exm339876 3 118945760 [T/C] NM_003778,NM_212543 B4GALT4,B4GALT4 EXON Missense_V128I,Missense_V128I exm339882 3 118945796 [C/G] NM_003778,NM_212543 B4GALT4,B4GALT4 EXON Missense_Q116E,Missense_Q116E exm2238381 3 119099765 [A/T] NM_020754 ARHGAP31 EXON Missense_H121Q exm339910 3 119101159 [A/G] NM_020754 ARHGAP31 EXON Missense_R151Q exm339912 3 119101206 [A/G] NM_020754 ARHGAP31 EXON Missense_A167T exm339922 3 119102053 [T/C] NM_020754 ARHGAP31 EXON Missense_P221L exm339924 3 119102067 [A/G] NM_020754 ARHGAP31 EXON Missense_N226D exm339925 3 119109637 [T/C] NM_020754 ARHGAP31 EXON Missense_R230W exm339930 3 119109769 [T/C] NM_020754 ARHGAP31 EXON Missense_P274S exm-rs11712165 3 119118796 [T/G] NM_020754 ARHGAP31 Silent exm339942 3 119120866 [G/C] NM_020754 ARHGAP31 EXON Missense_A423P exm2034238 3 119120980 [A/C] NM_020754 ARHGAP31 EXON Missense_P461T exm339950 3 119121196 [A/G] NM_020754 ARHGAP31 EXON Missense_G533R exm339954 3 119121217 [A/G] NM_020754 ARHGAP31 EXON Missense_K540E exm339959 3 119128397 [T/C] NM_020754 ARHGAP31 EXON Missense_P567L exm339974 3 119132812 [T/C] NM_020754 ARHGAP31 EXON Missense_T679I exm339979 3 119132992 [T/C] NM_020754 ARHGAP31 EXON Missense_P739L exm339984 3 119133061 [A/C] NM_020754 ARHGAP31 EXON Missense_K762T exm339986 3 119133099 [A/G] NM_020754 ARHGAP31 EXON Missense_G775S exm339987 3 119133106 [T/C] NM_020754 ARHGAP31 EXON Missense_L777P exm339988 3 119133120 [A/C] NM_020754 ARHGAP31 EXON Missense_P782T exm339990 3 119133135 [G/C] NM_020754 ARHGAP31 EXON Missense_P787A exm339992 3 119133183 [A/G] NM_020754 ARHGAP31 EXON Missense_G803S exm339997 3 119133273 [T/C] NM_020754 ARHGAP31 EXON Missense_L833F exm340000 3 119133310 [T/A] NM_020754 ARHGAP31 EXON Missense_D845V exm340003 3 119133345 [A/C] NM_020754 ARHGAP31 EXON Missense_K857Q exm340011 3 119133590 [T/G] NM_020754 ARHGAP31 EXON Missense_Q938H exm340016 3 119133624 [T/C] NM_020754 ARHGAP31 EXON Missense_R950C exm340020 3 119133741 [A/C] NM_020754 ARHGAP31 EXON Missense_P989T exm340023 3 119133880 [T/C] NM_020754 ARHGAP31 EXON Missense_T1035I exm340029 3 119134032 [A/G] NM_020754 ARHGAP31 EXON Missense_A1086T exm340031 3 119134119 [A/C] NM_020754 ARHGAP31 EXON Missense_I1115L exm340036 3 119134234 [A/G] NM_020754 ARHGAP31 EXON Missense_D1153G exm340043 3 119134576 [T/C] NM_020754 ARHGAP31 EXON Missense_P1267L exm340044 3 119134578 [A/G] NM_020754 ARHGAP31 EXON Missense_G1268R exm340050 3 119134759 [A/G] NM_020754 ARHGAP31 EXON Missense_R1328Q exm2238383 3 119134908 [A/G] NM_020754 ARHGAP31 EXON Missense_S1378G exm340060 3 119135011 [G/C] NM_020754 ARHGAP31 EXON Missense_P1412R exm340061 3 119135028 [A/C] NM_020754 ARHGAP31 EXON Missense_L1418I exm340062 3 119150836 [T/C] NM_018266,NR_073506 TMEM39A,TMEM39A EXON Missense_A487T,Silent exm340066 3 119151048 [T/C] NM_018266,NR_073506 TMEM39A,TMEM39A EXON Missense_R416Q,Silent exm340072 3 119155746 [A/G] NM_018266,NR_073506 TMEM39A,TMEM39A EXON Missense_T335M,Silent exm340079 3 119156748 [T/C] NM_018266,NR_073506 TMEM39A,TMEM39A EXON Missense_T260A,Silent exm340087 3 119156862 [T/C] NM_018266,NR_073506 TMEM39A,TMEM39A EXON Missense_E222K,Silent exm340099 3 119171308 [T/C] NM_018266,NR_073506 TMEM39A,TMEM39A EXON Missense_A136T,Silent exm340101 3 119176890 [T/C] NM_018266,NR_073506 TMEM39A,TMEM39A EXON Missense_N104S,Silent exm340128 3 119196201 [A/G] NR_024265,NM_152305 POGLUT1,POGLUT1 EXON Silent,Missense_R121H exm340131 3 119196288 [T/C] NR_024265,NM_152305 POGLUT1,POGLUT1 EXON Silent,Missense_F150S exm340136 3 119198989 [A/G] NR_024265,NM_152305 POGLUT1,POGLUT1 EXON Silent,Missense_R183Q exm2265615 3 119203154 [A/G] NR_024265,NM_152305 POGLUT1,POGLUT1 Silent,Silent exm340137 3 119204198 [A/G] NR_024265,NM_152305 POGLUT1,POGLUT1 EXON Silent,Missense_K201R exm2034294 3 119205718 [A/G] NR_024265,NM_152305 POGLUT1,POGLUT1 EXON Silent,Missense_R226Q exm340141 3 119207778 [T/C] NR_024265,NM_152305 POGLUT1,POGLUT1 EXON Silent,Synonymous_D247D exm340145 3 119209495 [A/G] NR_024265,NM_152305 POGLUT1,POGLUT1 EXON Silent,Missense_E299K exm340150 3 119211217 [T/C] NR_024265,NM_152305 POGLUT1,POGLUT1 EXON Silent,Missense_S371P exm340153 3 119211265 [A/T] NR_024265,NM_152305 POGLUT1,POGLUT1 EXON Silent,Missense_M387L exm340165 3 119217756 [A/G] NM_016589 TIMMDC1 EXON Missense_R59Q exm340169 3 119219573 [A/G] NM_016589 TIMMDC1 EXON Missense_N76D exm340170 3 119219577 [T/C] NM_016589 TIMMDC1 EXON Missense_I77T exm340171 3 119219579 [T/C] NM_016589 TIMMDC1 EXON Missense_C78R exm-rs2293370 3 119219934 [A/G] NM_016589 TIMMDC1 Silent exm340189 3 119222832 [A/G] NM_016589 TIMMDC1 EXON Missense_N161D exm340191 3 119232489 [T/C] NM_016589 TIMMDC1 EXON Synonymous_A173A exm340198 3 119236053 [A/G] NM_016589 TIMMDC1 EXON Missense_T200A exm340200 3 119236104 [A/G] NM_016589 TIMMDC1 EXON Missense_V217I exm340202 3 119236128 [T/C] NM_016589 TIMMDC1 EXON Nonsense_R225X exm340214 3 119242484 [T/C] NM_016589 TIMMDC1 EXON Missense_P247S exm340222 3 119246670 [T/C] NM_005191 CD80 EXON Missense_R272K exm340224 3 119255986 [A/G] NM_005191 CD80 EXON Missense_T233I exm340226 3 119255998 [T/A] NM_005191 CD80 EXON Missense_F229Y exm340228 3 119256020 [A/G] NM_005191 CD80 EXON Missense_H222Y exm340229 3 119256056 [T/C] NM_005191 CD80 EXON Missense_T210A exm2034319 3 119256150 [A/C] NM_005191 CD80 EXON Missense_N178K exm340236 3 119256246 [A/C] NM_005191 CD80 EXON Missense_S146R exm340247 3 119263570 [A/T] NM_005191 CD80 EXON Missense_N82I exm2034324 3 119263675 [A/G] NM_005191 CD80 EXON Missense_T47M exm340250 3 119263676 [T/C] NM_005191 CD80 EXON Missense_T47A exm340268 3 119301255 [A/G] NM_001125 ADPRH EXON Missense_Y80C exm340285 3 119305332 [A/G] NM_001125 ADPRH EXON Missense_T167A exm340297 3 119306449 [A/G] NM_001125 ADPRH EXON Nonsense_W266X exm340298 3 119306468 [A/G] NM_001125 ADPRH EXON Missense_D273N exm340301 3 119306534 [T/C] NM_001125 ADPRH EXON Nonsense_R295X exm340302 3 119306535 [A/G] NM_001125 ADPRH EXON Missense_R295Q exm340311 3 119316828 [T/G] NM_001206960,NM_015900,NM_001206961 PLA1A,PLA1A,PLA1A EXON Missense_S23I,Missense_S23I,Silent exm340326 3 119327648 [A/G] NM_001206960,NM_015900,NM_001206961 PLA1A,PLA1A,PLA1A EXON Missense_T103A,Missense_T103A,Silent exm340327 3 119327651 [T/C] NM_001206960,NM_015900,NM_001206961 PLA1A,PLA1A,PLA1A EXON Missense_F104L,Missense_F104L,Silent exm340330 3 119327670 [A/G] NM_001206960,NM_015900,NM_001206961 PLA1A,PLA1A,PLA1A EXON Missense_R110H,Missense_R110H,Silent exm340341 3 119328316 [A/T] NM_001206960,NM_015900,NM_001206961 PLA1A,PLA1A,PLA1A EXON Missense_V136E,Missense_V152E,Silent exm340363 3 119336896 [A/G] NM_001206960,NM_015900,NM_001206961 PLA1A,PLA1A,PLA1A EXON Missense_R246K,Missense_R262K,Missense_R89K exm340366 3 119336962 [A/G] NM_001206960,NM_015900,NM_001206961 PLA1A,PLA1A,PLA1A EXON Missense_S268N,Missense_S284N,Missense_S111N exm340373 3 119343970 [C/G] NM_001206960,NM_015900,NM_001206961 PLA1A,PLA1A,PLA1A Silent,Silent,Silent exm340378 3 119347549 [C/G] NM_001206960,NM_015900,NM_001206961 PLA1A,PLA1A,PLA1A EXON Missense_P359A,Missense_P375A,Missense_P202A exm340380 3 119347561 [T/C] NM_001206960,NM_015900,NM_001206961 PLA1A,PLA1A,PLA1A EXON Missense_R363C,Missense_R379C,Missense_R206C exm340381 3 119347611 [A/C] NM_001206960,NM_015900,NM_001206961 PLA1A,PLA1A,PLA1A EXON Missense_N379K,Missense_N395K,Missense_N222K exm340382 3 119347623 [A/C] NM_001206960,NM_015900,NM_001206961 PLA1A,PLA1A,PLA1A EXON Missense_F383L,Missense_F399L,Missense_F226L exm340387 3 119348231 [A/G] NM_001206960,NM_015900,NM_001206961 PLA1A,PLA1A,PLA1A EXON Synonymous_R413R,Synonymous_R429R,Synonymous_R256R exm340390 3 119348275 [C/G] NM_001206960,NM_015900,NM_001206961 PLA1A,PLA1A,PLA1A EXON Missense_S428T,Missense_S444T,Missense_S271T exm340391 3 119348277 [A/G] NM_001206960,NM_015900,NM_001206961 PLA1A,PLA1A,PLA1A EXON Missense_V429M,Missense_V445M,Missense_V272M exm340393 3 119348298 [A/G] NM_001206960,NM_015900,NM_001206961 PLA1A,PLA1A,PLA1A EXON Missense_K436E,Missense_K452E,Missense_K279E exm340403 3 119361336 [A/G] NM_022135 POPDC2 EXON Missense_T361M exm340411 3 119367340 [T/C] NM_022135 POPDC2 EXON Missense_R259H exm340423 3 119373389 [T/C] NM_022135 POPDC2 EXON Nonsense_W188X exm340426 3 119378781 [A/G] NM_022135 POPDC2 EXON Missense_R164W exm340439 3 119378979 [A/G] NM_022135 POPDC2 EXON Missense_R98C exm340442 3 119379078 [T/C] NM_022135 POPDC2 EXON Missense_V65M exm340449 3 119379186 [T/C] NM_022135 POPDC2 EXON Missense_V29I exm340452 3 119379227 [A/C] NM_022135 POPDC2 EXON Missense_G15V exm340454 3 119379264 [T/C] NM_022135 POPDC2 EXON Missense_A3T exm340472 3 119422033 [T/C] NM_033364 MAATS1 EXON Missense_H30Y exm340475 3 119422069 [G/C] NM_033364 MAATS1 EXON Missense_D42H exm340483 3 119426311 [G/C] NM_033364 MAATS1 EXON Missense_L88V exm340489 3 119426409 [A/G] NM_033364 MAATS1 Silent exm340499 3 119428735 [A/G] NM_033364 MAATS1 EXON Missense_V165I exm340511 3 119445021 [A/G] NM_033364 MAATS1 EXON Missense_R229Q exm340515 3 119445077 [T/C] NM_033364 MAATS1 EXON Missense_R248C exm340517 3 119445092 [T/A] NM_033364 MAATS1 EXON Missense_S253T exm2269516 3 119446862 [T/C] NM_033364 MAATS1 Silent exm340524 3 119449081 [T/G] NM_033364 MAATS1 EXON Missense_R292L exm2034411 3 119449114 [A/G] NM_033364 MAATS1 EXON Missense_R303H exm340527 3 119449159 [A/G] NM_033364 MAATS1 EXON Missense_R318Q exm340537 3 119451232 [C/G] NM_033364 MAATS1 EXON Missense_Q370H exm340540 3 119451252 [A/G] NM_033364 MAATS1 EXON Missense_R377H exm340541 3 119451267 [G/C] NM_033364 MAATS1 EXON Missense_P382R exm340543 3 119452345 [A/G] NM_033364 MAATS1 EXON Missense_V446I exm340546 3 119456262 [A/G] NM_033364 MAATS1 EXON Missense_R465H exm340555 3 119459418 [A/G] NM_033364 MAATS1 EXON Missense_R519Q exm340560 3 119459516 [T/C] NM_033364 MAATS1 EXON Missense_R552W exm2238395 3 119462955 [A/G] NM_033364 MAATS1 EXON Missense_R605H exm340584 3 119466025 [A/G] NM_033364 MAATS1 EXON Missense_A656T exm340591 3 119469789 [T/A] NM_033364 MAATS1 EXON Missense_N717Y exm340594 3 119469841 [T/C] NM_033364 MAATS1 EXON Missense_T734M exm340599 3 119469903 [A/G] NM_033364 MAATS1 EXON Missense_M755V exm340601 3 119469919 [A/C] NM_033364 MAATS1 EXON Missense_E760A exm2238396 3 119485949 [A/T] NM_033364 MAATS1 EXON Silent exm340611 3 119526120 [C/G] NM_033013,NM_003889,NM_022002 NR1I2,NR1I2,NR1I2 EXON Missense_S8T,Missense_S8T,Missense_S47T exm340613 3 119526149 [A/G] NM_033013,NM_003889,NM_022002 NR1I2,NR1I2,NR1I2 EXON Missense_E18K,Missense_E18K,Missense_E57K exm340615 3 119526176 [T/C] NM_033013,NM_003889,NM_022002 NR1I2,NR1I2,NR1I2 EXON Missense_P27S,Missense_P27S,Missense_P66S exm340618 3 119526203 [A/G] NM_033013,NM_003889,NM_022002 NR1I2,NR1I2,NR1I2 EXON Missense_G36R,Missense_G36R,Missense_G75R exm2238398 3 119530424 [T/G] NM_033013,NM_003889,NM_022002 NR1I2,NR1I2,NR1I2 EXON Missense_L124V,Missense_L124V,Missense_L163V exm340644 3 119530571 [T/C] NM_033013,NM_003889,NM_022002 NR1I2,NR1I2,NR1I2 EXON Missense_R173W,Missense_R173W,Missense_R212W exm340657 3 119533824 [A/G] NM_033013,NM_003889,NM_022002 NR1I2,NR1I2,NR1I2 Silent,Silent,Silent exm340660 3 119533842 [A/G] NM_033013,NM_003889,NM_022002 NR1I2,NR1I2,NR1I2 EXON Missense_D234N,Missense_D271N,Missense_D310N exm340662 3 119533864 [A/G] NM_033013,NM_003889,NM_022002 NR1I2,NR1I2,NR1I2 EXON Missense_G241E,Missense_G278E,Missense_G317E exm340679 3 119534582 [T/G] NM_033013,NM_003889,NM_022002 NR1I2,NR1I2,NR1I2 EXON Missense_G318V,Missense_G355V,Missense_G394V exm340684 3 119534626 [A/G] NM_033013,NM_003889,NM_022002 NR1I2,NR1I2,NR1I2 EXON Missense_A333T,Missense_A370T,Missense_A409T exm340687 3 119535916 [T/C] NM_033013,NM_003889,NM_022002 NR1I2,NR1I2,NR1I2 EXON Missense_F351L,Missense_F388L,Missense_F427L exm2034471 3 119535955 [T/C] NM_033013,NM_003889,NM_022002 NR1I2,NR1I2,NR1I2 EXON Missense_R364C,Missense_R401C,Missense_R440C exm340694 3 119536030 [G/C] NM_033013,NM_003889,NM_022002 NR1I2,NR1I2,NR1I2 EXON Missense_Q389E,Missense_Q426E,Missense_Q465E exm340711 3 119562149 [T/C] NM_001146156,NM_002093 GSK3B,GSK3B EXON Missense_R383Q,Missense_R396Q exm340714 3 119582406 [T/C] NM_001146156,NM_002093 GSK3B,GSK3B EXON Missense_R319H,Missense_R332H exm340716 3 119582452 [A/C] NM_001146156,NM_002093 GSK3B,GSK3B EXON Missense_V304F,Missense_V317F exm340719 3 119585455 [A/T] NM_001146156,NM_002093 GSK3B,GSK3B EXON Silent,Missense_H310Q exm2034498 3 119885910 [A/G] NM_153002,NM_001168271 GPR156,GPR156 EXON Missense_F805S,Missense_F801S exm340749 3 119885931 [T/C] NM_153002,NM_001168271 GPR156,GPR156 EXON Missense_R798H,Missense_R794H exm340757 3 119886055 [A/G] NM_153002,NM_001168271 GPR156,GPR156 EXON Missense_R757C,Missense_R753C exm340761 3 119886108 [G/C] NM_153002,NM_001168271 GPR156,GPR156 EXON Missense_S739C,Missense_S735C exm340765 3 119886265 [T/C] NM_153002,NM_001168271 GPR156,GPR156 EXON Missense_G687R,Missense_G683R exm340766 3 119886266 [G/C] NM_153002,NM_001168271 GPR156,GPR156 EXON Missense_E686D,Missense_E682D exm340773 3 119886457 [A/G] NM_153002,NM_001168271 GPR156,GPR156 EXON Missense_R623W,Missense_R619W exm340775 3 119886502 [A/C] NM_153002,NM_001168271 GPR156,GPR156 EXON Missense_A608S,Missense_A604S exm340776 3 119886517 [A/G] NM_153002,NM_001168271 GPR156,GPR156 EXON Missense_R603W,Missense_R599W exm340781 3 119886607 [T/G] NM_153002,NM_001168271 GPR156,GPR156 EXON Missense_Q573K,Missense_Q569K exm2034502 3 119886621 [T/G] NM_153002,NM_001168271 GPR156,GPR156 EXON Missense_P568H,Missense_P564H exm340788 3 119886714 [T/C] NM_153002,NM_001168271 GPR156,GPR156 EXON Missense_R537Q,Missense_R533Q exm340791 3 119886776 [T/A] NM_153002,NM_001168271 GPR156,GPR156 EXON Missense_E516D,Missense_E512D exm2255630 3 119886974 [T/G] NM_153002,NM_001168271 GPR156,GPR156 EXON Synonymous_S450S,Synonymous_S446S exm340798 3 119886990 [A/C] NM_153002,NM_001168271 GPR156,GPR156 EXON Missense_C445F,Missense_C441F exm340801 3 119887003 [A/G] NM_153002,NM_001168271 GPR156,GPR156 EXON Missense_R441W,Missense_R437W exm2034507 3 119887047 [A/G] NM_153002,NM_001168271 GPR156,GPR156 EXON Missense_S426L,Missense_S422L exm340806 3 119887146 [T/C] NM_153002,NM_001168271 GPR156,GPR156 EXON Missense_Y393C,Missense_Y389C exm340813 3 119892232 [T/C] NM_153002,NM_001168271 GPR156,GPR156 EXON Missense_H340R,Missense_H336R exm340815 3 119892255 [G/C] NM_153002,NM_001168271 GPR156,GPR156 EXON Missense_F332L,Missense_F328L exm340816 3 119892272 [A/G] NM_153002,NM_001168271 GPR156,GPR156 EXON Missense_R327C,Missense_R323C exm340831 3 119904174 [A/G] NM_153002,NM_001168271 GPR156,GPR156 EXON Missense_V223A,Missense_V219A exm340834 3 119904187 [A/G] NM_153002,NM_001168271 GPR156,GPR156 EXON Missense_R219W,Missense_R215W exm340835 3 119904226 [T/C] NM_153002,NM_001168271 GPR156,GPR156 EXON Missense_V206M,Missense_V202M exm340837 3 119904237 [A/G] NM_153002,NM_001168271 GPR156,GPR156 EXON Missense_T202I,Missense_T198I exm340838 3 119905508 [A/C] NM_153002,NM_001168271 GPR156,GPR156 EXON Missense_M199I,Silent exm340839 3 119905560 [A/G] NM_153002,NM_001168271 GPR156,GPR156 EXON Missense_T182M,Missense_T182M exm340845 3 119911827 [A/G] NM_153002,NM_001168271 GPR156,GPR156 EXON Missense_L145F,Missense_L145F exm340849 3 119912201 [T/C] NM_153002,NM_001168271 GPR156,GPR156 EXON Missense_A102T,Missense_A102T exm340857 3 119962499 [A/C] NM_153002,NM_001168271 GPR156,GPR156 EXON Missense_C74F,Missense_C74F exm340871 3 119962938 [A/G] NM_153002,NM_001168271 GPR156,GPR156 EXON Missense_P3L,Missense_P3L exm-rs2319669 3 119999954 [T/C] exm2265494 3 120001235 [A/G] exm340873 3 120050075 [T/C] NM_001099678 LRRC58 EXON Missense_R363H exm340874 3 120050076 [A/G] NM_001099678 LRRC58 EXON Missense_R363C exm340877 3 120050156 [A/G] NM_001099678 LRRC58 EXON Missense_S336F exm340889 3 120053972 [T/C] NM_001099678 LRRC58 EXON Missense_R215H exm340892 3 120054795 [T/C] NM_001099678 LRRC58 EXON Missense_E169G exm340898 3 120067667 [T/G] NM_001099678 LRRC58 EXON Missense_L142M exm340920 3 120118730 [T/C] NM_007085 FSTL1 EXON Synonymous_Q294Q exm340926 3 120121656 [A/G] NM_007085 FSTL1 EXON Synonymous_D268D exm340934 3 120123714 [T/G] NM_007085 FSTL1 EXON Missense_N189K exm2034544 3 120123739 [A/G] NM_007085 FSTL1 EXON Missense_I181T exm2275221 3 120123818 [T/C] NM_007085 FSTL1 EXON Missense_N155D exm340941 3 120128482 [T/C] NM_007085 FSTL1 EXON Missense_E120G exm340946 3 120129820 [T/C] NM_007085 FSTL1 EXON Missense_V104I exm340949 3 120130716 [T/C] NM_007085 FSTL1 EXON Missense_D95N exm2238404 3 120134775 [T/C] NM_007085 FSTL1 EXON Missense_I55V exm2261367 3 120158211 [A/G] NM_007085 FSTL1 Silent exm340975 3 120319987 [A/T] NM_001168331,NM_004547 NDUFB4,NDUFB4 EXON Nonsense_Y70X,Nonsense_Y70X exm340984 3 120321071 [T/G] NM_001168331,NM_004547 NDUFB4,NDUFB4 EXON Silent,Missense_L115R exm340996 3 120352054 [G/C] NM_000187 HGD EXON Missense_D376E exm340999 3 120352080 [T/C] NM_000187 HGD EXON Missense_M368V exm341006 3 120357389 [A/G] NM_000187 HGD EXON Missense_R307C exm341009 3 120360480 [T/G] NM_000187 HGD EXON Missense_L279M exm341036 3 120371441 [T/G] NM_000187 HGD EXON Missense_S114R exm341041 3 120389296 [T/G] NM_000187 HGD EXON Missense_E87A exm341042 3 120389316 [T/A] NM_000187 HGD EXON Missense_Q80H exm341050 3 120393782 [A/C] NM_000187 HGD EXON Missense_A48S exm341057 3 120400951 [T/G] NM_000187 HGD EXON Missense_E3A exm341061 3 120408670 [T/C] NM_173825 RABL3 EXON Missense_X237W exm341066 3 120413055 [T/C] NM_173825 RABL3 EXON Missense_R184Q exm341075 3 120424862 [A/C] NM_173825 RABL3 EXON Missense_V123G exm341106 3 120469550 [G/C] NM_005513 GTF2E1 EXON Missense_L51V exm341120 3 120489640 [A/G] NM_005513 GTF2E1 EXON Missense_D172N exm341126 3 120495353 [T/C] NM_005513 GTF2E1 EXON Missense_S245F exm341130 3 120495491 [A/G] NM_005513 GTF2E1 EXON Missense_G291D exm341131 3 120495503 [T/C] NM_005513 GTF2E1 EXON Missense_M295T exm341137 3 120499920 [A/G] NM_005513 GTF2E1 EXON Missense_R308H exm341144 3 120500093 [T/C] NM_005513 GTF2E1 EXON Missense_P366S exm341145 3 120500099 [T/C] NM_005513 GTF2E1 EXON Missense_R368C exm341146 3 120500103 [T/C] NM_005513 GTF2E1 EXON Missense_P369L exm341152 3 120500228 [T/C] NM_005513 GTF2E1 EXON Missense_R411W exm341154 3 120500291 [T/C] NM_005513 GTF2E1 EXON Missense_R432C exm2269517 3 120511490 [T/G] exm2269662 3 120551100 [T/G] exm341198 3 120952486 [A/G] NM_014980 STXBP5L EXON Missense_V379M exm341202 3 120957928 [T/C] NM_014980 STXBP5L EXON Missense_I432T exm341213 3 120976023 [T/C] NM_014980 STXBP5L EXON Missense_L559F exm341216 3 120976051 [C/G] NM_014980 STXBP5L EXON Missense_T568S exm341221 3 120978000 [A/G] NM_014980 STXBP5L EXON Missense_S648N exm341232 3 121001127 [T/C] NM_014980 STXBP5L EXON Missense_R709C exm341233 3 121001128 [A/G] NM_014980 STXBP5L EXON Missense_R709H exm2265495 3 121039333 [A/G] NM_014980 STXBP5L Silent exm341248 3 121100164 [A/G] NM_014980 STXBP5L EXON Missense_R815H exm341250 3 121100283 [A/G] NM_014980 STXBP5L EXON Missense_V855I exm341263 3 121126246 [T/C] NM_014980 STXBP5L EXON Missense_S939F exm341266 3 121126404 [A/G] NM_014980 STXBP5L EXON Missense_A992T exm341268 3 121126425 [T/G] NM_014980 STXBP5L EXON Missense_A999S exm341277 3 121134709 [A/G] NM_014980 STXBP5L EXON Missense_M1064I exm341286 3 121137304 [A/G] NM_014980 STXBP5L EXON Missense_R1140Q exm341287 3 121137315 [A/G] NM_014980 STXBP5L EXON Missense_D1144N exm2273376 3 121137976 [T/C] NM_014980 STXBP5L EXON Silent exm341295 3 121151240 [T/C] NM_199420 POLQ EXON Missense_M2562V exm2238414 3 121151264 [T/C] NM_199420 POLQ EXON Missense_V2554I exm341297 3 121151784 [A/G] NM_199420 POLQ EXON Missense_A2547V exm341298 3 121151812 [G/C] NM_199420 POLQ EXON Missense_L2538V exm341300 3 121151879 [T/C] NM_199420 POLQ EXON Synonymous_G2515G exm341301 3 121154974 [T/C] NM_199420 POLQ EXON Missense_Q2513R exm341302 3 121154975 [A/G] NM_199420 POLQ EXON Nonsense_Q2513X exm341308 3 121155119 [T/C] NM_199420 POLQ EXON Missense_E2465K exm341309 3 121155122 [T/C] NM_199420 POLQ EXON Missense_A2464T exm341317 3 121168167 [T/C] NM_199420 POLQ EXON Missense_Y2420C exm341322 3 121168194 [G/C] NM_199420 POLQ EXON Missense_C2411S exm341331 3 121186422 [A/G] NM_199420 POLQ EXON Missense_A2304V exm2034717 3 121187155 [A/C] NM_199420 POLQ EXON Missense_G2281V exm341341 3 121190933 [T/A] NM_199420 POLQ EXON Missense_T2208S exm341343 3 121191008 [T/C] NM_199420 POLQ EXON Missense_V2183I exm341344 3 121191013 [T/C] NM_199420 POLQ Silent exm2238415 3 121192310 [T/G] NM_199420 POLQ EXON Missense_P2144T exm341348 3 121195439 [T/C] NM_199420 POLQ EXON Missense_Y2118C exm2034732 3 121200482 [T/A] NM_199420 POLQ EXON Missense_S2050T exm341356 3 121200503 [A/G] NM_199420 POLQ EXON Nonsense_R2043X exm341363 3 121202345 [T/C] NM_199420 POLQ EXON Missense_R1953Q exm341364 3 121202346 [A/G] NM_199420 POLQ EXON Nonsense_R1953X exm341375 3 121204025 [A/G] NM_199420 POLQ EXON Missense_S1879L exm341382 3 121206383 [A/T] NM_199420 POLQ EXON Missense_I1799F exm341383 3 121206391 [T/C] NM_199420 POLQ EXON Missense_N1796S exm341384 3 121206428 [A/C] NM_199420 POLQ EXON Missense_D1784Y exm341390 3 121206527 [A/C] NM_199420 POLQ EXON Missense_G1751W exm341393 3 121206620 [A/G] NM_199420 POLQ EXON Missense_L1720F exm341408 3 121207083 [A/C] NM_199420 POLQ EXON Missense_Q1565H exm341409 3 121207094 [A/C] NM_199420 POLQ EXON Missense_D1562Y exm341410 3 121207095 [T/C] NM_199420 POLQ EXON Missense_M1561I exm341412 3 121207143 [T/G] NM_199420 POLQ EXON Missense_H1545Q exm341417 3 121207258 [A/G] NM_199420 POLQ EXON Missense_M1507T exm341419 3 121207270 [T/C] NM_199420 POLQ EXON Missense_Q1503R exm341423 3 121207376 [A/G] NM_199420 POLQ EXON Missense_P1468S exm341434 3 121207637 [T/G] NM_199420 POLQ EXON Missense_P1381T exm341439 3 121207721 [T/C] NM_199420 POLQ EXON Missense_I1353V exm341442 3 121207760 [A/C] NM_199420 POLQ EXON Missense_A1340S exm341446 3 121207795 [C/G] NM_199420 POLQ EXON Nonsense_S1328X exm341451 3 121207883 [T/C] NM_199420 POLQ EXON Missense_T1299A exm341453 3 121207947 [T/G] NM_199420 POLQ EXON Missense_K1277N exm341456 3 121207976 [T/C] NM_199420 POLQ EXON Missense_V1268I exm341457 3 121208008 [T/C] NM_199420 POLQ EXON Missense_D1257G exm341458 3 121208011 [T/C] NM_199420 POLQ EXON Missense_G1256E exm341459 3 121208033 [T/G] NM_199420 POLQ EXON Missense_P1249T exm341463 3 121208093 [T/C] NM_199420 POLQ EXON Missense_R1229G exm341472 3 121208390 [A/T] NM_199420 POLQ EXON Missense_N1130Y exm341480 3 121208593 [A/G] NM_199420 POLQ EXON Missense_A1062V exm341481 3 121208611 [A/G] NM_199420 POLQ EXON Missense_P1056L exm341490 3 121208833 [C/G] NM_199420 POLQ EXON Missense_T982R exm341491 3 121208882 [T/C] NM_199420 POLQ EXON Missense_T966A exm341494 3 121208894 [T/C] NM_199420 POLQ EXON Missense_S962G exm341500 3 121209029 [T/C] NM_199420 POLQ EXON Missense_E917K exm341502 3 121209041 [A/G] NM_199420 POLQ EXON Missense_H913Y exm341504 3 121209142 [A/G] NM_199420 POLQ EXON Missense_I879T exm341515 3 121212497 [A/G] NM_199420 POLQ EXON Missense_R784C exm341524 3 121215771 [T/G] NM_199420 POLQ EXON Missense_T721N exm341529 3 121217454 [T/C] NM_199420 POLQ EXON Missense_K675E exm341531 3 121217496 [A/C] NM_199420 POLQ EXON Missense_W661G exm341538 3 121228551 [T/C] NM_199420 POLQ Silent exm341544 3 121228960 [A/G] NM_199420 POLQ EXON Missense_A581V exm341551 3 121230748 [A/G] NM_199420 POLQ EXON Nonsense_R533X exm341552 3 121230798 [T/C] NM_199420 POLQ EXON Missense_R516H exm341553 3 121230799 [A/G] NM_199420 POLQ EXON Missense_R516C exm341557 3 121238787 [A/G] NM_199420 POLQ EXON Nonsense_R467X exm341561 3 121238820 [A/G] NM_199420 POLQ EXON Missense_R456C exm341568 3 121238874 [A/G] NM_199420 POLQ EXON Missense_R438W exm341573 3 121240967 [C/G] NM_199420 POLQ EXON Missense_V380L exm341579 3 121248602 [A/G] NM_199420 POLQ EXON Missense_T333M exm341581 3 121251868 [A/C] NM_199420 POLQ EXON Missense_V310G exm341584 3 121251884 [A/C] NM_199420 POLQ EXON Missense_S305A exm341587 3 121251934 [T/C] NM_199420 POLQ EXON Missense_R288H exm341593 3 121252048 [T/G] NM_199420 POLQ EXON Missense_D250A exm341599 3 121255993 [T/G] NM_199420 POLQ EXON Missense_L232I exm341601 3 121256014 [A/G] NM_199420 POLQ EXON Missense_H225Y exm341604 3 121258339 [A/G] NM_199420 POLQ EXON Missense_I191T exm341614 3 121260325 [A/G] NM_199420 POLQ EXON Synonymous_A115A exm341616 3 121263590 [A/C] NM_199420 POLQ EXON Missense_K109N exm341617 3 121263644 [A/C] NM_199420 POLQ EXON Missense_K91N exm341624 3 121263720 [A/C] NM_199420 POLQ EXON Missense_R66I exm2238422 3 121264709 [G/C] NM_199420 POLQ EXON Missense_R6G exm341638 3 121289594 [T/C] NM_001012659 ARGFX EXON Missense_P12S exm341646 3 121303787 [T/C] NM_001012659 ARGFX EXON Missense_R82C exm341655 3 121304933 [A/G] NM_001012659 ARGFX EXON Missense_R145Q exm341658 3 121304981 [T/C] NM_001012659 ARGFX EXON Missense_T161I exm341661 3 121305055 [T/C] NM_001012659 ARGFX EXON Missense_P186S exm2238423 3 121305328 [A/G] NM_001012659 ARGFX EXON Missense_G277S exm341673 3 121305362 [T/C] NM_001012659 ARGFX EXON Missense_T288I exm341689 3 121340420 [A/G] NM_016298 FBXO40 EXON Missense_M48I exm341695 3 121340492 [C/G] NM_016298 FBXO40 EXON Missense_C72W exm341698 3 121340509 [A/G] NM_016298 FBXO40 EXON Missense_R78H exm341699 3 121340536 [T/C] NM_016298 FBXO40 EXON Missense_V87A exm341701 3 121340550 [A/G] NM_016298 FBXO40 EXON Missense_V92M exm341703 3 121340620 [T/G] NM_016298 FBXO40 EXON Missense_I115S exm341708 3 121340775 [A/G] NM_016298 FBXO40 EXON Missense_E167K exm341720 3 121340955 [A/G] NM_016298 FBXO40 EXON Missense_A227T exm341724 3 121341019 [T/A] NM_016298 FBXO40 EXON Missense_K248I exm2034824 3 121341109 [T/A] NM_016298 FBXO40 EXON Missense_V278D exm2034825 3 121341202 [T/C] NM_016298 FBXO40 EXON Missense_M309T exm341742 3 121341401 [A/C] NM_016298 FBXO40 EXON Missense_H375Q exm341747 3 121341467 [C/G] NM_016298 FBXO40 EXON Missense_K397N exm341755 3 121341621 [A/G] NM_016298 FBXO40 EXON Missense_A449T exm341758 3 121341646 [A/T] NM_016298 FBXO40 EXON Missense_V457E exm341763 3 121341816 [A/G] NM_016298 FBXO40 EXON Missense_A514T exm341764 3 121341826 [A/G] NM_016298 FBXO40 EXON Missense_G517E exm341769 3 121341888 [T/C] NM_016298 FBXO40 EXON Nonsense_Q538X exm341772 3 121341916 [T/C] NM_016298 FBXO40 EXON Missense_P547L exm341774 3 121341930 [G/C] NM_016298 FBXO40 EXON Missense_E552Q exm341790 3 121342177 [A/G] NM_016298 FBXO40 EXON Missense_R634K exm-rs3772130 3 121344140 [A/G] NM_016298 FBXO40 Silent exm341791 3 121345555 [A/G] NM_016298 FBXO40 EXON Missense_S643N exm341793 3 121345582 [A/G] NM_016298 FBXO40 EXON Nonsense_W652X exm341795 3 121345660 [T/C] NM_016298 FBXO40 EXON Missense_P678L exm341797 3 121345678 [T/C] NM_016298 FBXO40 EXON Missense_M684T exm341802 3 121345737 [T/C] NM_016298 FBXO40 EXON Nonsense_R704X exm2264005 3 121346930 [A/C] NM_016298 FBXO40 EXON Silent exm341814 3 121350748 [T/C] NM_005335 HCLS1 EXON Missense_R469H exm341815 3 121350749 [A/G] NM_005335 HCLS1 EXON Missense_R469C exm341823 3 121350802 [A/G] NM_005335 HCLS1 EXON Missense_P451L exm341825 3 121350966 [C/G] NM_005335 HCLS1 EXON Missense_V436L exm341837 3 121351257 [T/C] NM_005335 HCLS1 EXON Missense_E388K exm341839 3 121351302 [T/C] NM_005335 HCLS1 EXON Missense_E373K exm341844 3 121351338 [T/C] NM_005335 HCLS1 EXON Missense_E361K exm341852 3 121351918 [A/G] NM_005335 HCLS1 EXON Missense_P335L exm341857 3 121352005 [A/G] NM_005335 HCLS1 EXON Missense_V306A exm341860 3 121353085 [A/G] NM_005335 HCLS1 EXON Missense_P291L exm341861 3 121353086 [A/G] NM_005335 HCLS1 EXON Missense_P291S exm341862 3 121353110 [A/T] NM_005335 HCLS1 EXON Missense_I283L exm341865 3 121353152 [T/G] NM_005335 HCLS1 EXON Missense_K269Q exm341870 3 121353202 [T/C] NM_005335 HCLS1 EXON Missense_R252Q exm341872 3 121353238 [A/G] NM_005335 HCLS1 EXON Missense_A240V exm341875 3 121353254 [T/C] NM_005335 HCLS1 EXON Missense_T235A exm341878 3 121354583 [A/G] NM_005335 HCLS1 EXON Synonymous_A230A exm341881 3 121354599 [A/G] NM_005335 HCLS1 EXON Missense_T225M exm341883 3 121354620 [A/G] NM_005335 HCLS1 EXON Missense_P218L exm341885 3 121354642 [T/C] NM_005335 HCLS1 EXON Missense_G211S exm341894 3 121356062 [T/C] NM_005335 HCLS1 EXON Missense_D166N exm341898 3 121356079 [T/C] NM_005335 HCLS1 EXON Missense_R160Q exm341910 3 121366216 [A/C] NM_005335 HCLS1 EXON Missense_S80A exm341913 3 121366293 [A/G] NM_005335 HCLS1 EXON Missense_I54T exm341915 3 121376141 [T/C] NM_005335 HCLS1 EXON Missense_R48H exm341921 3 121377175 [C/G] NM_005335 HCLS1 EXON Missense_G7A exm341931 3 121383458 [A/G] NM_001256487,NM_001256486,NM_004487,NM_001256488 GOLGB1,GOLGB1,GOLGB1,GOLGB1 EXON Missense_R3183W,Missense_R3227W,Missense_R3217W,Missense_R3142W exm341933 3 121383792 [A/G] NM_001256487,NM_001256486,NM_004487,NM_001256488 GOLGB1,GOLGB1,GOLGB1,GOLGB1 EXON Missense_T3175I,Missense_T3219I,Missense_T3209I,Missense_T3134I exm341942 3 121386428 [T/C] NM_001256487,NM_001256486,NM_004487,NM_001256488 GOLGB1,GOLGB1,GOLGB1,GOLGB1 EXON Missense_N3111S,Missense_N3155S,Missense_N3145S,Missense_N3070S exm341945 3 121388060 [A/G] NM_001256487,NM_001256486,NM_004487,NM_001256488 GOLGB1,GOLGB1,GOLGB1,GOLGB1 EXON Missense_A3068V,Missense_A3107V,Missense_A3102V,Missense_A3027V exm341948 3 121388135 [T/C] NM_001256487,NM_001256486,NM_004487,NM_001256488 GOLGB1,GOLGB1,GOLGB1,GOLGB1 EXON Missense_R3043H,Missense_R3082H,Missense_R3077H,Missense_R3002H exm341949 3 121388141 [T/C] NM_001256487,NM_001256486,NM_004487,NM_001256488 GOLGB1,GOLGB1,GOLGB1,GOLGB1 EXON Missense_S3041N,Missense_S3080N,Missense_S3075N,Missense_S3000N exm341955 3 121395795 [T/C] NM_001256487,NM_001256486,NM_004487,NM_001256488 GOLGB1,GOLGB1,GOLGB1,GOLGB1 EXON Missense_D3002G,Missense_D3041G,Missense_D3036G,Missense_D2961G exm2034895 3 121409890 [A/G] NM_001256487,NM_001256486,NM_004487,NM_001256488 GOLGB1,GOLGB1,GOLGB1,GOLGB1 EXON Missense_A2735V,Missense_A2774V,Missense_A2769V,Missense_A2694V exm341996 3 121410365 [T/C] NM_001256487,NM_001256486,NM_004487,NM_001256488 GOLGB1,GOLGB1,GOLGB1,GOLGB1 EXON Missense_I2577V,Missense_I2616V,Missense_I2611V,Missense_I2536V exm341997 3 121410436 [T/C] NM_001256487,NM_001256486,NM_004487,NM_001256488 GOLGB1,GOLGB1,GOLGB1,GOLGB1 EXON Missense_R2553Q,Missense_R2592Q,Missense_R2587Q,Missense_R2512Q exm2034899 3 121410613 [T/C] NM_001256487,NM_001256486,NM_004487,NM_001256488 GOLGB1,GOLGB1,GOLGB1,GOLGB1 EXON Missense_K2494R,Missense_K2533R,Missense_K2528R,Missense_K2453R exm342000 3 121410640 [A/G] NM_001256487,NM_001256486,NM_004487,NM_001256488 GOLGB1,GOLGB1,GOLGB1,GOLGB1 EXON Missense_M2485T,Missense_M2524T,Missense_M2519T,Missense_M2444T exm342003 3 121410728 [T/C] NM_001256487,NM_001256486,NM_004487,NM_001256488 GOLGB1,GOLGB1,GOLGB1,GOLGB1 EXON Missense_I2456V,Missense_I2495V,Missense_I2490V,Missense_I2415V exm342005 3 121410772 [T/C] NM_001256487,NM_001256486,NM_004487,NM_001256488 GOLGB1,GOLGB1,GOLGB1,GOLGB1 EXON Missense_R2441H,Missense_R2480H,Missense_R2475H,Missense_R2400H exm342006 3 121410773 [A/G] NM_001256487,NM_001256486,NM_004487,NM_001256488 GOLGB1,GOLGB1,GOLGB1,GOLGB1 EXON Missense_R2441C,Missense_R2480C,Missense_R2475C,Missense_R2400C exm342011 3 121410850 [T/C] NM_001256487,NM_001256486,NM_004487,NM_001256488 GOLGB1,GOLGB1,GOLGB1,GOLGB1 EXON Missense_K2415R,Missense_K2454R,Missense_K2449R,Missense_K2374R exm342013 3 121410896 [T/C] NM_001256487,NM_001256486,NM_004487,NM_001256488 GOLGB1,GOLGB1,GOLGB1,GOLGB1 EXON Missense_A2400T,Missense_A2439T,Missense_A2434T,Missense_A2359T exm2238429 3 121411341 [T/G] NM_001256487,NM_001256486,NM_004487,NM_001256488 GOLGB1,GOLGB1,GOLGB1,GOLGB1 EXON Missense_E2251D,Missense_E2290D,Missense_E2285D,Missense_E2210D exm342026 3 121411420 [T/C] NM_001256487,NM_001256486,NM_004487,NM_001256488 GOLGB1,GOLGB1,GOLGB1,GOLGB1 EXON Missense_H2225R,Missense_H2264R,Missense_H2259R,Missense_H2184R exm342027 3 121411423 [A/T] NM_001256487,NM_001256486,NM_004487,NM_001256488 GOLGB1,GOLGB1,GOLGB1,GOLGB1 EXON Missense_E2224V,Missense_E2263V,Missense_E2258V,Missense_E2183V exm342028 3 121412618 [T/C] NM_001256487,NM_001256486,NM_004487,NM_001256488 GOLGB1,GOLGB1,GOLGB1,GOLGB1 EXON Missense_H2212R,Missense_H2251R,Missense_H2246R,Missense_H2171R exm342030 3 121412702 [A/G] NM_001256487,NM_001256486,NM_004487,NM_001256488 GOLGB1,GOLGB1,GOLGB1,GOLGB1 EXON Missense_A2184V,Missense_A2223V,Missense_A2218V,Missense_A2143V exm342045 3 121413176 [T/C] NM_001256487,NM_001256486,NM_004487,NM_001256488 GOLGB1,GOLGB1,GOLGB1,GOLGB1 EXON Missense_K2026R,Missense_K2065R,Missense_K2060R,Missense_K1985R exm342053 3 121413395 [T/C] NM_001256487,NM_001256486,NM_004487,NM_001256488 GOLGB1,GOLGB1,GOLGB1,GOLGB1 EXON Missense_R1953Q,Missense_R1992Q,Missense_R1987Q,Missense_R1912Q exm342073 3 121413951 [A/G] NM_001256487,NM_001256486,NM_004487,NM_001256488 GOLGB1,GOLGB1,GOLGB1,GOLGB1 EXON Missense_S1768P,Missense_S1807P,Missense_S1802P,Missense_S1727P exm342079 3 121414061 [T/C] NM_001256487,NM_001256486,NM_004487,NM_001256488 GOLGB1,GOLGB1,GOLGB1,GOLGB1 EXON Missense_G1731D,Missense_G1770D,Missense_G1765D,Missense_G1690D exm342081 3 121414165 [A/C] NM_001256487,NM_001256486,NM_004487,NM_001256488 GOLGB1,GOLGB1,GOLGB1,GOLGB1 EXON Missense_R1696S,Missense_R1735S,Missense_R1730S,Missense_R1655S exm342083 3 121414217 [A/C] NM_001256487,NM_001256486,NM_004487,NM_001256488 GOLGB1,GOLGB1,GOLGB1,GOLGB1 EXON Missense_C1679F,Missense_C1718F,Missense_C1713F,Missense_C1638F exm342086 3 121414325 [T/C] NM_001256487,NM_001256486,NM_004487,NM_001256488 GOLGB1,GOLGB1,GOLGB1,GOLGB1 EXON Missense_K1643R,Missense_K1682R,Missense_K1677R,Missense_K1602R exm342096 3 121414735 [T/C] NM_001256487,NM_001256486,NM_004487,NM_001256488 GOLGB1,GOLGB1,GOLGB1,GOLGB1 EXON Synonymous_R1506R,Synonymous_R1545R,Synonymous_R1540R,Synonymous_R1465R exm2255635 3 121414735 [T/C] NM_001256487,NM_001256486,NM_004487,NM_001256488 GOLGB1,GOLGB1,GOLGB1,GOLGB1 EXON Synonymous_R1506R,Synonymous_R1545R,Synonymous_R1540R,Synonymous_R1465R exm342102 3 121414971 [A/G] NM_001256487,NM_001256486,NM_004487,NM_001256488 GOLGB1,GOLGB1,GOLGB1,GOLGB1 EXON Missense_C1428R,Missense_C1467R,Missense_C1462R,Missense_C1387R exm342110 3 121415291 [T/C] NM_001256487,NM_001256486,NM_004487,NM_001256488 GOLGB1,GOLGB1,GOLGB1,GOLGB1 EXON Missense_S1321N,Missense_S1360N,Missense_S1355N,Missense_S1280N exm342113 3 121415370 [T/C] NM_001256487,NM_001256486,NM_004487,NM_001256488 GOLGB1,GOLGB1,GOLGB1,GOLGB1 EXON Missense_T1295A,Missense_T1334A,Missense_T1329A,Missense_T1254A exm342114 3 121415438 [T/C] NM_001256487,NM_001256486,NM_004487,NM_001256488 GOLGB1,GOLGB1,GOLGB1,GOLGB1 EXON Missense_Q1272R,Missense_Q1311R,Missense_Q1306R,Missense_Q1231R exm2034913 3 121415471 [A/G] NM_001256487,NM_001256486,NM_004487,NM_001256488 GOLGB1,GOLGB1,GOLGB1,GOLGB1 EXON Missense_A1261V,Missense_A1300V,Missense_A1295V,Missense_A1220V exm342118 3 121415540 [T/C] NM_001256487,NM_001256486,NM_004487,NM_001256488 GOLGB1,GOLGB1,GOLGB1,GOLGB1 EXON Missense_E1238G,Missense_E1277G,Missense_E1272G,Missense_E1197G exm342120 3 121415610 [A/G] NM_001256487,NM_001256486,NM_004487,NM_001256488 GOLGB1,GOLGB1,GOLGB1,GOLGB1 EXON Missense_P1215S,Missense_P1254S,Missense_P1249S,Missense_P1174S exm342121 3 121415642 [A/G] NM_001256487,NM_001256486,NM_004487,NM_001256488 GOLGB1,GOLGB1,GOLGB1,GOLGB1 EXON Missense_I1204T,Missense_I1243T,Missense_I1238T,Missense_I1163T exm342125 3 121415720 [T/C] NM_001256487,NM_001256486,NM_004487,NM_001256488 GOLGB1,GOLGB1,GOLGB1,GOLGB1 EXON Missense_Y1178C,Missense_Y1217C,Missense_Y1212C,Missense_Y1137C exm342129 3 121415795 [T/C] NM_001256487,NM_001256486,NM_004487,NM_001256488 GOLGB1,GOLGB1,GOLGB1,GOLGB1 EXON Missense_R1153H,Missense_R1192H,Missense_R1187H,Missense_R1112H exm342135 3 121415988 [C/G] NM_001256487,NM_001256486,NM_004487,NM_001256488 GOLGB1,GOLGB1,GOLGB1,GOLGB1 EXON Missense_Q1089E,Missense_Q1128E,Missense_Q1123E,Missense_Q1048E exm342136 3 121416024 [C/G] NM_001256487,NM_001256486,NM_004487,NM_001256488 GOLGB1,GOLGB1,GOLGB1,GOLGB1 EXON Missense_L1077V,Missense_L1116V,Missense_L1111V,Missense_L1036V exm342142 3 121416473 [T/C] NM_001256487,NM_001256486,NM_004487,NM_001256488 GOLGB1,GOLGB1,GOLGB1,GOLGB1 EXON Missense_Q927R,Missense_Q966R,Missense_Q961R,Missense_Q886R exm342143 3 121416500 [T/C] NM_001256487,NM_001256486,NM_004487,NM_001256488 GOLGB1,GOLGB1,GOLGB1,GOLGB1 EXON Missense_D918G,Missense_D957G,Missense_D952G,Missense_D877G exm342146 3 121416623 [G/C] NM_001256487,NM_001256486,NM_004487,NM_001256488 GOLGB1,GOLGB1,GOLGB1,GOLGB1 EXON Missense_T877S,Missense_T916S,Missense_T911S,Missense_T836S exm342151 3 121416804 [A/C] NM_001256487,NM_001256486,NM_004487,NM_001256488 GOLGB1,GOLGB1,GOLGB1,GOLGB1 EXON Missense_A817S,Missense_A856S,Missense_A851S,Missense_A776S exm342153 3 121416813 [A/G] NM_001256487,NM_001256486,NM_004487,NM_001256488 GOLGB1,GOLGB1,GOLGB1,GOLGB1 EXON Missense_L814F,Missense_L853F,Missense_L848F,Missense_L773F exm342154 3 121416863 [T/G] NM_001256487,NM_001256486,NM_004487,NM_001256488 GOLGB1,GOLGB1,GOLGB1,GOLGB1 EXON Missense_T797N,Missense_T836N,Missense_T831N,Missense_T756N exm342156 3 121416927 [T/C] NM_001256487,NM_001256486,NM_004487,NM_001256488 GOLGB1,GOLGB1,GOLGB1,GOLGB1 EXON Missense_V776M,Missense_V815M,Missense_V810M,Missense_V735M exm342157 3 121416980 [T/C] NM_001256487,NM_001256486,NM_004487,NM_001256488 GOLGB1,GOLGB1,GOLGB1,GOLGB1 EXON Missense_N758S,Missense_N797S,Missense_N792S,Missense_N717S exm2255636 3 121417159 [A/G] NM_001256487,NM_001256486,NM_004487,NM_001256488 GOLGB1,GOLGB1,GOLGB1,GOLGB1 EXON Synonymous_A698A,Synonymous_A737A,Synonymous_A732A,Synonymous_A657A exm342168 3 121417391 [T/A] NM_001256487,NM_001256486,NM_004487,NM_001256488 GOLGB1,GOLGB1,GOLGB1,GOLGB1 EXON Missense_N621I,Missense_N660I,Missense_N655I,Missense_N580I exm342172 3 121417641 [T/C] NM_001256487,NM_001256486,NM_004487,NM_001256488 GOLGB1,GOLGB1,GOLGB1,GOLGB1 EXON Missense_E538K,Missense_E577K,Missense_E572K,Missense_E497K exm342173 3 121417674 [T/C] NM_001256487,NM_001256486,NM_004487,NM_001256488 GOLGB1,GOLGB1,GOLGB1,GOLGB1 EXON Missense_V527I,Missense_V566I,Missense_V561I,Missense_V486I exm342176 3 121417736 [C/G] NM_001256487,NM_001256486,NM_004487,NM_001256488 GOLGB1,GOLGB1,GOLGB1,GOLGB1 EXON Missense_A506G,Missense_A545G,Missense_A540G,Missense_A465G exm342180 3 121418709 [G/C] NM_001256487,NM_001256486,NM_004487,NM_001256488 GOLGB1,GOLGB1,GOLGB1,GOLGB1 EXON Missense_L476V,Missense_L515V,Missense_L510V,Missense_L435V exm342181 3 121418726 [A/G] NM_001256487,NM_001256486,NM_004487,NM_001256488 GOLGB1,GOLGB1,GOLGB1,GOLGB1 EXON Missense_L470P,Missense_L509P,Missense_L504P,Missense_L429P exm342197 3 121435698 [T/C] NM_001256487,NM_001256486,NM_004487,NM_001256488 GOLGB1,GOLGB1,GOLGB1,GOLGB1 EXON Missense_T353A,Missense_T392A,Missense_T387A,Missense_T312A exm342204 3 121435874 [A/G] NM_001256487,NM_001256486,NM_004487,NM_001256488 GOLGB1,GOLGB1,GOLGB1,GOLGB1 EXON Missense_V294A,Missense_V333A,Missense_V328A,Missense_V253A exm342208 3 121437294 [A/G] NM_001256487,NM_001256486,NM_004487,NM_001256488 GOLGB1,GOLGB1,GOLGB1,GOLGB1 EXON Missense_R237C,Missense_R276C,Missense_R271C,Missense_R196C exm342229 3 121445881 [T/C] NM_001256487,NM_001256486,NM_004487,NM_001256488 GOLGB1,GOLGB1,GOLGB1,GOLGB1 EXON Missense_K98R,Missense_K137R,Missense_K137R,Missense_K98R exm342232 3 121448088 [T/G] NM_001256487,NM_001256486,NM_004487,NM_001256488 GOLGB1,GOLGB1,GOLGB1,GOLGB1 EXON Missense_Q78K,Missense_Q117K,Missense_Q117K,Missense_Q78K exm342237 3 121448767 [T/C] NM_001256487,NM_001256486,NM_004487,NM_001256488 GOLGB1,GOLGB1,GOLGB1,GOLGB1 EXON Missense_K26R,Missense_K65R,Missense_K65R,Missense_K26R exm342250 3 121489286 [A/G] NM_001023570,NM_001023571 IQCB1,IQCB1 EXON Missense_L568P,Missense_L435P exm342253 3 121489395 [T/C] NM_001023570,NM_001023571 IQCB1,IQCB1 EXON Missense_G532R,Missense_G399R exm342260 3 121491530 [T/C] NM_001023570,NM_001023571 IQCB1,IQCB1 EXON Missense_E481K,Missense_E348K exm2034950 3 121500607 [A/G] NM_001023570,NM_001023571 IQCB1,IQCB1 EXON Missense_Y465H,Missense_Y332H exm342265 3 121500697 [A/G] NM_001023570,NM_001023571 IQCB1,IQCB1 EXON Missense_R435C,Missense_R302C exm342266 3 121500699 [T/C] NM_001023570,NM_001023571 IQCB1,IQCB1 EXON Missense_C434Y,Missense_C301Y exm342270 3 121500720 [T/G] NM_001023570,NM_001023571 IQCB1,IQCB1 EXON Missense_A427E,Missense_A294E exm342295 3 121516059 [A/C] NM_001023570,NM_001023571 IQCB1,IQCB1 EXON Missense_L261R,Silent exm342301 3 121518221 [A/G] NM_001023570,NM_001023571 IQCB1,IQCB1 EXON Synonymous_S196S,Silent exm342305 3 121526218 [T/A] NM_001023570,NM_001023571 IQCB1,IQCB1 EXON Missense_M187K,Missense_M187K exm342310 3 121527826 [A/G] NM_001023570,NM_001023571 IQCB1,IQCB1 EXON Missense_F142L,Missense_F142L exm342315 3 121544969 [A/G] NM_001023570,NM_001023571 IQCB1,IQCB1 EXON Missense_L108F,Missense_L108F exm342325 3 121554209 [A/G] NM_018456 EAF2 EXON Missense_Q26R exm342333 3 121573568 [G/C] NM_018456 EAF2 EXON Nonsense_S79X exm342339 3 121575986 [T/C] NM_018456 EAF2 EXON Missense_I156T exm342340 3 121575991 [A/G] NM_018456 EAF2 EXON Missense_D158N exm342341 3 121575997 [A/G] NM_018456 EAF2 EXON Missense_E160K exm2238434 3 121591417 [T/G] NM_018456 EAF2 EXON Missense_M173R exm342344 3 121591441 [A/G] NM_018456 EAF2 EXON Missense_D181G exm2034985 3 121591519 [T/C] NM_018456 EAF2 EXON Missense_S207F exm342351 3 121591607 [G/C] NM_018456 EAF2 EXON Missense_D236E exm342355 3 121605219 [A/G] NM_018456 EAF2 EXON Missense_S256N exm342367 3 121615340 [T/G] NM_001145998,NM_021082 SLC15A2,SLC15A2 EXON Missense_A65S,Missense_A65S exm-rs2049330 3 121633904 [A/G] NM_001145998,NM_021082 SLC15A2,SLC15A2 Silent,Silent exm2255638 3 121634470 [A/G] NM_001145998,NM_021082 SLC15A2,SLC15A2 EXON Synonymous_V178V,Synonymous_V209V exm342383 3 121634470 [A/G] NM_001145998,NM_021082 SLC15A2,SLC15A2 EXON Synonymous_V178V,Synonymous_V209V exm2238436 3 121634533 [T/G] NM_001145998,NM_021082 SLC15A2,SLC15A2 EXON Missense_I199M,Missense_I230M exm342391 3 121641670 [T/C] NM_001145998,NM_021082 SLC15A2,SLC15A2 EXON Nonsense_R246X,Nonsense_R277X exm2035001 3 121641710 [T/C] NM_001145998,NM_021082 SLC15A2,SLC15A2 Silent,Silent exm342395 3 121641888 [A/G] NM_001145998,NM_021082 SLC15A2,SLC15A2 EXON Missense_K259R,Missense_K290R exm342404 3 121642070 [A/G] NM_001145998,NM_021082 SLC15A2,SLC15A2 EXON Missense_G289D,Missense_G320D exm342411 3 121643804 [T/C] NM_001145998,NM_021082 SLC15A2,SLC15A2 EXON Missense_L319F,Missense_L350F exm342418 3 121647286 [T/C] NM_001145998,NM_021082 SLC15A2,SLC15A2 EXON Missense_P378S,Missense_P409S exm342430 3 121647962 [A/G] NM_001145998,NM_021082 SLC15A2,SLC15A2 EXON Missense_R461H,Missense_R492H exm342432 3 121648168 [A/G] NM_001145998,NM_021082 SLC15A2,SLC15A2 EXON Missense_R478K,Missense_R509K exm342442 3 121658203 [A/G] NM_001145998,NM_021082 SLC15A2,SLC15A2 EXON Missense_N559S,Missense_N590S exm342454 3 121659744 [T/C] NM_001145998,NM_021082 SLC15A2,SLC15A2 EXON Missense_Y663H,Missense_Y694H exm342456 3 121659777 [T/C] NM_001145998,NM_021082 SLC15A2,SLC15A2 EXON Missense_R674W,Missense_R705W exm342468 3 121712002 [A/G] NM_175924,NM_001199799,NM_001199800 ILDR1,ILDR1,ILDR1 EXON Missense_R488C,Missense_R532C,Missense_R443C exm342475 3 121712088 [T/C] NM_175924,NM_001199799,NM_001199800 ILDR1,ILDR1,ILDR1 EXON Missense_H459R,Missense_H503R,Missense_H414R exm342477 3 121712098 [A/G] NM_175924,NM_001199799,NM_001199800 ILDR1,ILDR1,ILDR1 EXON Missense_H456Y,Missense_H500Y,Missense_H411Y exm342486 3 121712208 [T/C] NM_175924,NM_001199799,NM_001199800 ILDR1,ILDR1,ILDR1 EXON Missense_R419H,Missense_R463H,Missense_R374H exm342494 3 121712271 [T/C] NM_175924,NM_001199799,NM_001199800 ILDR1,ILDR1,ILDR1 EXON Missense_R398H,Missense_R442H,Missense_R353H exm342496 3 121712291 [T/G] NM_175924,NM_001199799,NM_001199800 ILDR1,ILDR1,ILDR1 EXON Missense_S391R,Missense_S435R,Missense_S346R exm342498 3 121712298 [T/C] NM_175924,NM_001199799,NM_001199800 ILDR1,ILDR1,ILDR1 EXON Missense_R389Q,Missense_R433Q,Missense_R344Q exm342499 3 121712299 [A/G] NM_175924,NM_001199799,NM_001199800 ILDR1,ILDR1,ILDR1 EXON Missense_R389W,Missense_R433W,Missense_R344W exm342501 3 121712351 [T/C] NM_175924,NM_001199799,NM_001199800 ILDR1,ILDR1,ILDR1 EXON Nonsense_W371X,Nonsense_W415X,Nonsense_W326X exm342503 3 121712358 [A/G] NM_175924,NM_001199799,NM_001199800 ILDR1,ILDR1,ILDR1 EXON Missense_I369T,Missense_I413T,Missense_I324T exm342506 3 121712385 [T/C] NM_175924,NM_001199799,NM_001199800 ILDR1,ILDR1,ILDR1 EXON Missense_R360H,Missense_R404H,Missense_R315H exm342511 3 121712412 [A/G] NM_175924,NM_001199799,NM_001199800 ILDR1,ILDR1,ILDR1 EXON Missense_L351S,Missense_L395S,Missense_L306S exm342514 3 121712434 [A/G] NM_175924,NM_001199799,NM_001199800 ILDR1,ILDR1,ILDR1 EXON Missense_W344R,Missense_W388R,Missense_W299R exm342516 3 121712437 [A/G] NM_175924,NM_001199799,NM_001199800 ILDR1,ILDR1,ILDR1 EXON Missense_S343P,Missense_S387P,Missense_S298P exm342518 3 121712458 [A/G] NM_175924,NM_001199799,NM_001199800 ILDR1,ILDR1,ILDR1 EXON Missense_L336F,Missense_L380F,Missense_L291F exm342519 3 121712540 [G/C] NM_175924,NM_001199799,NM_001199800 ILDR1,ILDR1,ILDR1 EXON Missense_Q308H,Missense_Q352H,Missense_Q263H exm2255640 3 121712624 [A/G] NM_175924,NM_001199799,NM_001199800 ILDR1,ILDR1,ILDR1 EXON Synonymous_V280V,Synonymous_V324V,Synonymous_V235V exm342528 3 121712730 [A/C] NM_175924,NM_001199799,NM_001199800 ILDR1,ILDR1,ILDR1 EXON Missense_L245W,Missense_L289W,Missense_L200W exm342531 3 121712779 [T/C] NM_175924,NM_001199799,NM_001199800 ILDR1,ILDR1,ILDR1 EXON Missense_T229A,Missense_T273A,Missense_T184A exm342537 3 121713043 [A/G] NM_175924,NM_001199799,NM_001199800 ILDR1,ILDR1,ILDR1 EXON Silent,Missense_P255L,Missense_P166L exm2238439 3 121713121 [A/G] NM_175924,NM_001199799,NM_001199800 ILDR1,ILDR1,ILDR1 EXON Silent,Missense_L229P,Missense_L140P exm342539 3 121720197 [A/G] NM_175924,NM_001199799,NM_001199800 ILDR1,ILDR1,ILDR1 EXON Missense_R202C,Missense_R202C,Silent exm342554 3 121724163 [T/C] NM_175924,NM_001199799,NM_001199800 ILDR1,ILDR1,ILDR1 EXON Missense_A103T,Missense_A103T,Missense_A103T exm342557 3 121725840 [A/G] NM_175924,NM_001199799,NM_001199800 ILDR1,ILDR1,ILDR1 EXON Missense_A76V,Missense_A76V,Missense_A76V exm342580 3 121774344 [A/C] NM_001206924,NM_175862,NM_001206925 CD86,CD86,CD86 EXON Missense_P3H,Missense_P3H,Silent exm2264034 3 121800487 [A/C] NM_001206924,NM_175862,NM_001206925,NM_176892,NM_006889 CD86,CD86,CD86,CD86,CD86 Silent,Silent,Silent,Silent,Silent exm342589 3 121822512 [A/G] NM_001206924,NM_175862,NM_001206925,NM_176892,NM_006889 CD86,CD86,CD86,CD86,CD86 EXON Silent,Missense_E73G,Silent,Missense_E67G,Missense_E67G exm342596 3 121825153 [A/G] NM_001206924,NM_175862,NM_001206925,NM_176892,NM_006889 CD86,CD86,CD86,CD86,CD86 EXON Missense_S58N,Missense_S170N,Missense_S88N,Missense_S164N,Missense_S164N exm342599 3 121825197 [A/G] NM_001206924,NM_175862,NM_001206925,NM_176892,NM_006889 CD86,CD86,CD86,CD86,CD86 EXON Missense_V73I,Missense_V185I,Missense_V103I,Missense_V179I,Missense_V179I exm342600 3 121825217 [T/G] NM_001206924,NM_175862,NM_001206925,NM_176892,NM_006889 CD86,CD86,CD86,CD86,CD86 EXON Missense_D79E,Missense_D191E,Missense_D109E,Missense_D185E,Missense_D185E exm2035063 3 121825338 [T/C] NM_001206924,NM_175862,NM_001206925,NM_176892,NM_006889 CD86,CD86,CD86,CD86,CD86 EXON Missense_F120L,Missense_F232L,Missense_F150L,Missense_F226L,Missense_F226L exm342609 3 121828181 [T/C] NM_001206924,NM_175862,NM_001206925,NM_176892,NM_006889 CD86,CD86,CD86,CD86,CD86 EXON Missense_I146T,Missense_I258T,Missense_I176T,Silent,Missense_I252T exm342618 3 121838319 [A/G] NM_001206924,NM_175862,NM_001206925,NM_176892,NM_006889 CD86,CD86,CD86,CD86,CD86 EXON Missense_A198T,Missense_A310T,Missense_A228T,Missense_A256T,Missense_A304T exm342621 3 121838358 [A/G] NM_001206924,NM_175862,NM_001206925,NM_176892,NM_006889 CD86,CD86,CD86,CD86,CD86 EXON Missense_D211N,Missense_D323N,Missense_D241N,Missense_D269N,Missense_D317N exm2265496 3 121855727 [A/G] exm-rs16832787 3 121919740 [A/G] NM_000388,NM_001178065 CASR,CASR Silent,Silent exm342642 3 121980622 [T/C] NM_000388,NM_001178065 CASR,CASR EXON Missense_S247F,Missense_S247F exm342643 3 121980630 [A/G] NM_000388,NM_001178065 CASR,CASR EXON Missense_E250K,Missense_E250K exm342648 3 121980730 [T/C] NM_000388,NM_001178065 CASR,CASR EXON Missense_I283T,Missense_I283T exm342664 3 121981022 [A/T] NM_000388,NM_001178065 CASR,CASR EXON Missense_S380R,Missense_S380R exm342665 3 121981031 [G/C] NM_000388,NM_001178065 CASR,CASR EXON Missense_R383S,Missense_R383S exm342667 3 121981074 [A/G] NM_000388,NM_001178065 CASR,CASR EXON Missense_D398N,Missense_D398N exm342668 3 121981167 [T/C] NM_000388,NM_001178065 CASR,CASR EXON Missense_H429Y,Missense_H429Y exm342682 3 122000982 [A/G] NM_000388,NM_001178065 CASR,CASR EXON Missense_R544Q,Missense_R554Q exm342686 3 122002576 [A/G] NM_000388,NM_001178065 CASR,CASR EXON Missense_N592S,Missense_N602S exm2255643 3 122003045 [G/C] NM_000388,NM_001178065 CASR,CASR EXON Synonymous_P748P,Synonymous_P758P exm2238442 3 122003625 [A/G] NM_000388,NM_001178065 CASR,CASR EXON Missense_E942K,Missense_E952K exm342721 3 122003757 [T/G] NM_000388,NM_001178065 CASR,CASR EXON Missense_A986S,Missense_A996S exm342722 3 122003769 [A/G] NM_000388,NM_001178065 CASR,CASR EXON Missense_R990G,Missense_R1000G exm342726 3 122003832 [G/C] NM_000388,NM_001178065 CASR,CASR EXON Missense_E1011Q,Missense_E1021Q exm342728 3 122003892 [A/G] NM_000388,NM_001178065 CASR,CASR EXON Missense_G1031S,Missense_G1041S exm2035120 3 122060340 [A/G] NM_005213 CSTA EXON Missense_G75R exm342749 3 122060367 [A/G] NM_005213 CSTA EXON Missense_G84R exm342752 3 122060397 [A/G] NM_005213 CSTA EXON Missense_E94K exm342753 3 122060404 [T/C] NM_005213 CSTA EXON Missense_T96M exm342783 3 122103120 [A/G] NM_014367 FAM162A EXON Missense_S3N exm342786 3 122121623 [A/C] NM_014367 FAM162A EXON Missense_L17F exm342789 3 122121729 [T/C] NM_014367 FAM162A EXON Missense_R53C exm2273959 3 122123138 [T/C] NM_014367 FAM162A EXON Missense_T64M exm2035134 3 122123174 [A/G] NM_014367 FAM162A EXON Missense_R76H exm342794 3 122123179 [A/G] NM_014367 FAM162A EXON Missense_K78E exm342795 3 122123211 [A/G] NM_014367 FAM162A Silent exm342799 3 122126196 [T/C] NM_014367 FAM162A EXON Missense_T111M exm342802 3 122128589 [A/G] NM_014367 FAM162A EXON Missense_A126T exm342804 3 122128637 [T/C] NM_014367 FAM162A EXON Missense_R142C exm342805 3 122128638 [A/G] NM_014367 FAM162A EXON Missense_R142H exm342806 3 122128658 [A/G] NM_014367 FAM162A EXON Missense_M149V exm342807 3 122128659 [T/C] NM_014367 FAM162A EXON Missense_M149T exm2255644 3 122133383 [T/C] NM_019069 WDR5B EXON Synonymous_X331X exm342820 3 122133510 [A/G] NM_019069 WDR5B EXON Missense_I289T exm342821 3 122133530 [T/C] NM_019069 WDR5B EXON Nonsense_W282X exm342822 3 122133544 [C/G] NM_019069 WDR5B EXON Missense_L278V exm2238448 3 122134117 [A/G] NM_019069 WDR5B EXON Missense_S87P exm342847 3 122134254 [A/G] NM_019069 WDR5B EXON Missense_T41M exm342851 3 122134317 [T/C] NM_019069 WDR5B EXON Missense_N20S exm342855 3 122134341 [T/G] NM_019069 WDR5B EXON Missense_Q12P exm342856 3 122134353 [T/C] NM_019069 WDR5B EXON Missense_D8G exm2035155 3 122170872 [T/C] NR_026698,NM_002264 KPNA1,KPNA1 EXON Silent,Missense_M202V exm342889 3 122186188 [T/C] NR_026698,NM_002264 KPNA1,KPNA1 EXON Silent,Missense_S73N exm342900 3 122247284 [T/G] NM_001146102,NM_001146103,NM_001146104,NM_031458,NM_001146105 PARP9,PARP9,PARP9,PARP9,PARP9 EXON Missense_Y831S,Missense_Y796S,Missense_Y796S,Missense_Y831S,Missense_Y796S exm342901 3 122247286 [A/T] NM_001146102,NM_001146103,NM_001146104,NM_031458,NM_001146105 PARP9,PARP9,PARP9,PARP9,PARP9 EXON Missense_D830E,Missense_D795E,Missense_D795E,Missense_D830E,Missense_D795E exm342904 3 122247435 [A/G] NM_001146102,NM_001146103,NM_001146104,NM_031458,NM_001146105 PARP9,PARP9,PARP9,PARP9,PARP9 EXON Missense_P781S,Missense_P746S,Missense_P746S,Missense_P781S,Missense_P746S exm342907 3 122247449 [A/G] NM_001146102,NM_001146103,NM_001146104,NM_031458,NM_001146105 PARP9,PARP9,PARP9,PARP9,PARP9 EXON Missense_P776L,Missense_P741L,Missense_P741L,Missense_P776L,Missense_P741L exm342909 3 122247453 [A/G] NM_001146102,NM_001146103,NM_001146104,NM_031458,NM_001146105 PARP9,PARP9,PARP9,PARP9,PARP9 EXON Missense_H775Y,Missense_H740Y,Missense_H740Y,Missense_H775Y,Missense_H740Y exm342926 3 122255840 [T/C] NM_001146102,NM_001146103,NM_001146104,NM_031458,NM_001146105,NM_001146106 PARP9,PARP9,PARP9,PARP9,PARP9,PARP9 EXON Missense_T651A,Missense_T616A,Missense_T616A,Missense_T651A,Missense_T616A,Missense_T616A exm342936 3 122259432 [A/G] NM_001146102,NM_001146103,NM_001146104,NM_031458,NM_001146105,NM_001146106 PARP9,PARP9,PARP9,PARP9,PARP9,PARP9 EXON Missense_I586T,Missense_I551T,Missense_I551T,Missense_I586T,Missense_I551T,Missense_I551T exm342943 3 122259606 [T/C] NM_001146102,NM_001146103,NM_001146104,NM_031458,NM_001146105,NM_001146106 PARP9,PARP9,PARP9,PARP9,PARP9,PARP9 EXON Missense_Y528C,Missense_Y493C,Missense_Y493C,Missense_Y528C,Missense_Y493C,Missense_Y493C exm342945 3 122259619 [T/C] NM_001146102,NM_001146103,NM_001146104,NM_031458,NM_001146105,NM_001146106 PARP9,PARP9,PARP9,PARP9,PARP9,PARP9 EXON Missense_V524M,Missense_V489M,Missense_V489M,Missense_V524M,Missense_V489M,Missense_V489M exm342947 3 122259640 [T/C] NM_001146102,NM_001146103,NM_001146104,NM_031458,NM_001146105,NM_001146106 PARP9,PARP9,PARP9,PARP9,PARP9,PARP9 EXON Missense_I517V,Missense_I482V,Missense_I482V,Missense_I517V,Missense_I482V,Missense_I482V exm342953 3 122269544 [T/C] NM_001146102,NM_001146103,NM_001146104,NM_031458,NM_001146105,NM_001146106 PARP9,PARP9,PARP9,PARP9,PARP9,PARP9 EXON Missense_E440K,Missense_E405K,Missense_E405K,Missense_E440K,Missense_E405K,Missense_E405K exm342966 3 122274134 [A/G] NM_001146102,NM_001146103,NM_001146104,NM_031458,NM_001146105,NM_001146106 PARP9,PARP9,PARP9,PARP9,PARP9,PARP9 EXON Missense_T330M,Missense_T295M,Missense_T295M,Missense_T330M,Missense_T295M,Missense_T295M exm342970 3 122274206 [A/G] NM_001146102,NM_001146103,NM_001146104,NM_031458,NM_001146105,NM_001146106 PARP9,PARP9,PARP9,PARP9,PARP9,PARP9 EXON Missense_T306I,Missense_T271I,Missense_T271I,Missense_T306I,Missense_T271I,Missense_T271I exm342985 3 122274792 [T/C] NM_001146102,NM_001146103,NM_001146104,NM_031458,NM_001146105,NM_001146106 PARP9,PARP9,PARP9,PARP9,PARP9,PARP9 EXON Missense_R111G,Missense_R76G,Missense_R76G,Missense_R111G,Missense_R76G,Missense_R76G exm342986 3 122274866 [T/C] NM_001146102,NM_001146103,NM_001146104,NM_031458,NM_001146105,NM_001146106 PARP9,PARP9,PARP9,PARP9,PARP9,PARP9 EXON Missense_Q86R,Missense_Q51R,Missense_Q51R,Missense_Q86R,Missense_Q51R,Missense_Q51R exm342997 3 122277268 [A/G] NM_001146102,NM_001146103,NM_001146104,NM_031458,NM_001146105,NM_001146106 PARP9,PARP9,PARP9,PARP9,PARP9,PARP9 EXON Missense_S21L,Silent,Silent,Missense_S21L,Silent,Silent exm343000 3 122277305 [T/C] NM_001146102,NM_001146103,NM_001146104,NM_031458,NM_001146105,NM_001146106 PARP9,PARP9,PARP9,PARP9,PARP9,PARP9 EXON Missense_A9T,Missense_A9T,Missense_A9T,Missense_A9T,Missense_A9T,Missense_A9T exm343011 3 122283363 [A/C] NM_001146103,NM_031458,NM_138287 PARP9,PARP9,DTX3L EXON Silent,Silent,Missense_F30L exm343016 3 122284865 [T/C] NM_138287 DTX3L EXON Missense_M116T exm343021 3 122287547 [T/C] NM_138287 DTX3L EXON Missense_S204L exm343025 3 122287688 [T/C] NM_138287 DTX3L EXON Missense_P251L exm343029 3 122287775 [T/C] NM_138287 DTX3L EXON Missense_T280I exm2238452 3 122287807 [T/C] NM_138287 DTX3L EXON Missense_R291C exm2035219 3 122287808 [A/G] NM_138287 DTX3L EXON Missense_R291H exm343036 3 122288145 [T/G] NM_138287 DTX3L EXON Nonsense_Y403X exm343037 3 122288210 [A/G] NM_138287 DTX3L EXON Missense_R425K exm343041 3 122288279 [T/G] NM_138287 DTX3L EXON Missense_L448W exm343043 3 122288312 [T/G] NM_138287 DTX3L EXON Missense_G459V exm343049 3 122288441 [T/C] NM_138287 DTX3L EXON Missense_A502V exm343051 3 122288506 [T/C] NM_138287 DTX3L EXON Missense_H524Y exm343057 3 122288593 [C/G] NM_138287 DTX3L EXON Missense_L553V exm2035228 3 122289303 [A/G] NM_138287 DTX3L EXON Missense_E646G exm343069 3 122289369 [A/T] NM_138287 DTX3L EXON Missense_K668M exm343071 3 122289420 [T/A] NM_138287 DTX3L EXON Missense_L685Q exm343076 3 122289500 [T/C] NM_138287 DTX3L EXON Missense_R712W exm343078 3 122290557 [A/G] NM_138287 DTX3L EXON Missense_R729H exm343082 3 122296647 [A/G] NM_001113523 PARP15 EXON Missense_A45T exm-rs9880647 3 122306920 [A/G] NM_001113523 PARP15 Silent exm343089 3 122329380 [T/C] NM_001113523 PARP15 EXON Missense_L116F exm343093 3 122329499 [A/C] NM_001113523 PARP15 EXON Missense_S155R exm343097 3 122329551 [A/G] NM_001113523 PARP15 EXON Missense_N173D exm343099 3 122331994 [T/C] NM_001113523 PARP15 EXON Missense_A217V exm343105 3 122334591 [A/G] NM_001113523,NM_152615 PARP15,PARP15 EXON Silent,Missense_N12S exm343121 3 122340310 [T/G] NM_001113523,NM_152615 PARP15,PARP15 EXON Missense_D361E,Missense_D127E exm2035244 3 122345704 [T/C] NM_001113523,NM_152615 PARP15,PARP15 EXON Missense_A421V,Missense_A187V exm343132 3 122345746 [A/G] NM_001113523,NM_152615 PARP15,PARP15 EXON Missense_H435R,Missense_H201R exm343137 3 122345815 [A/G] NM_001113523,NM_152615 PARP15,PARP15 EXON Missense_D458G,Missense_D224G exm343148 3 122351055 [A/G] NM_001113523,NM_152615 PARP15,PARP15 EXON Missense_A521T,Missense_A287T exm343149 3 122351058 [A/G] NM_001113523,NM_152615 PARP15,PARP15 EXON Missense_I522V,Missense_I288V exm343152 3 122353931 [T/C] NM_001113523,NM_152615 PARP15,PARP15 EXON Missense_I546T,Missense_I312T exm343156 3 122354009 [A/G] NM_001113523,NM_152615 PARP15,PARP15 EXON Missense_H572R,Missense_H338R exm343162 3 122354714 [A/G] NM_001113523,NM_152615 PARP15,PARP15 EXON Missense_D602N,Missense_D368N exm2275694 3 122354759 [A/G] NM_001113523,NM_152615 PARP15,PARP15 EXON Missense_V617I,Missense_V383I exm343168 3 122354766 [A/G] NM_001113523,NM_152615 PARP15,PARP15 EXON Missense_R619Q,Missense_R385Q exm343170 3 122354792 [A/G] NM_001113523,NM_152615 PARP15,PARP15 EXON Missense_G628R,Missense_G394R exm343174 3 122354874 [A/G] NM_001113523,NM_152615 PARP15,PARP15 EXON Missense_R655Q,Missense_R421Q exm343176 3 122354895 [T/C] NM_001113523,NM_152615 PARP15,PARP15 EXON Missense_V662A,Missense_V428A exm343178 3 122354926 [T/C] NM_001113523,NM_152615 PARP15,PARP15 EXON Synonymous_Y672Y,Synonymous_Y438Y exm-rs2650951 3 122368347 [T/C] exm2269518 3 122397064 [T/G] exm343182 3 122399915 [A/C] NM_017554 PARP14 EXON Missense_D62A exm343188 3 122404166 [A/G] NM_017554 PARP14 Silent exm343201 3 122418238 [A/G] NM_017554 PARP14 EXON Synonymous_V279V exm343213 3 122418624 [A/C] NM_017554 PARP14 EXON Missense_T408K exm343217 3 122418743 [G/C] NM_017554 PARP14 EXON Missense_Q448E exm343218 3 122418750 [A/G] NM_017554 PARP14 EXON Missense_R450K exm343223 3 122418876 [T/C] NM_017554 PARP14 EXON Missense_T492M exm343230 3 122419083 [A/C] NM_017554 PARP14 EXON Missense_A561E exm343233 3 122419151 [A/G] NM_017554 PARP14 EXON Missense_A584T exm343236 3 122419292 [A/G] NM_017554 PARP14 EXON Missense_T631A exm2035267 3 122419394 [A/G] NM_017554 PARP14 EXON Missense_V665I exm343258 3 122419838 [T/C] NM_017554 PARP14 EXON Missense_R813W exm2255648 3 122419993 [T/C] NM_017554 PARP14 EXON Synonymous_A864A exm343279 3 122422748 [A/G] NM_017554 PARP14 EXON Missense_S1081G exm343288 3 122432728 [A/G] NM_017554 PARP14 EXON Missense_K1260R exm343294 3 122433166 [A/G] NM_017554 PARP14 EXON Missense_N1297S exm343300 3 122437232 [T/C] NM_017554 PARP14 EXON Missense_P1412S exm343301 3 122437236 [A/C] NM_017554 PARP14 EXON Missense_Q1413P exm343307 3 122437536 [T/C] NM_017554 PARP14 EXON Missense_A1513V exm343320 3 122437794 [A/C] NM_017554 PARP14 EXON Missense_T1599K exm343329 3 122446776 [A/G] NM_017554 PARP14 EXON Missense_G1687S exm343338 3 122459274 [A/G] NM_024610 HSPBAP1 EXON Missense_T462M exm343357 3 122459520 [T/C] NM_024610 HSPBAP1 EXON Missense_D380G exm343359 3 122459615 [A/T] NM_024610 HSPBAP1 EXON Missense_R348S exm343361 3 122459626 [A/G] NM_024610 HSPBAP1 EXON Nonsense_Q345X exm2238455 3 122471512 [T/C] NM_024610 HSPBAP1 EXON Missense_V251I exm343372 3 122474121 [G/C] NM_024610 HSPBAP1 EXON Missense_L243V exm343374 3 122474162 [T/C] NM_024610 HSPBAP1 EXON Missense_R229H exm343397 3 122487657 [T/C] NM_024610 HSPBAP1 EXON Missense_Q108R exm343403 3 122496628 [A/C] NM_024610 HSPBAP1 EXON Missense_S64A exm343406 3 122496747 [T/C] NM_024610 HSPBAP1 EXON Missense_H24R exm2035320 3 122512499 [C/G] NM_024610 HSPBAP1 EXON Missense_P10R exm343433 3 122545885 [T/G] NM_032839 DIRC2 EXON Missense_D226Y exm343435 3 122545891 [A/G] NM_032839 DIRC2 EXON Missense_I228V exm343437 3 122552162 [A/G] NM_032839 DIRC2 Silent exm343440 3 122564618 [A/G] NM_032839 DIRC2 EXON Missense_R281Q exm-rs12638324 3 122607098 [A/G] NR_024618 LOC100129550 EXON Silent exm2255649 3 122629077 [A/G] NM_001256347,NM_001256348,NR_046079,NM_001256346,NM_001031702 SEMA5B,SEMA5B,SEMA5B,SEMA5B,SEMA5B EXON Synonymous_Y1177Y,Synonymous_Y1029Y,Silent,Synonymous_Y1123Y,Synonymous_Y1123Y exm343465 3 122629077 [A/G] NM_001256347,NM_001256348,NR_046079,NM_001256346,NM_001031702 SEMA5B,SEMA5B,SEMA5B,SEMA5B,SEMA5B EXON Synonymous_Y1177Y,Synonymous_Y1029Y,Silent,Synonymous_Y1123Y,Synonymous_Y1123Y exm343466 3 122629128 [T/C] NM_001256347,NM_001256348,NR_046079,NM_001256346,NM_001031702 SEMA5B,SEMA5B,SEMA5B,SEMA5B,SEMA5B EXON Synonymous_L1160L,Synonymous_L1012L,Silent,Synonymous_L1106L,Synonymous_L1106L exm2255650 3 122629128 [T/C] NM_001256347,NM_001256348,NR_046079,NM_001256346,NM_001031702 SEMA5B,SEMA5B,SEMA5B,SEMA5B,SEMA5B EXON Synonymous_L1160L,Synonymous_L1012L,Silent,Synonymous_L1106L,Synonymous_L1106L exm343468 3 122629701 [A/G] NM_001256347,NM_001256348,NR_046079,NM_001256346,NM_001031702 SEMA5B,SEMA5B,SEMA5B,SEMA5B,SEMA5B EXON Missense_P1149S,Missense_P1001S,Silent,Missense_P1095S,Missense_P1095S exm343482 3 122630346 [T/C] NM_001256347,NM_001256348,NR_046079,NM_001256346,NM_001031702 SEMA5B,SEMA5B,SEMA5B,SEMA5B,SEMA5B EXON Missense_D1082G,Missense_D934G,Silent,Missense_D1028G,Missense_D1028G exm343488 3 122630827 [A/G] NM_001256347,NM_001256348,NR_046079,NM_001256346,NM_001031702 SEMA5B,SEMA5B,SEMA5B,SEMA5B,SEMA5B EXON Missense_S1050P,Missense_S902P,Silent,Missense_S996P,Missense_S996P exm2035358 3 122631753 [G/C] NM_001256347,NM_001256348,NR_046079,NM_001256346,NM_001031702 SEMA5B,SEMA5B,SEMA5B,SEMA5B,SEMA5B EXON Missense_G942R,Missense_G830R,Silent,Missense_G888R,Missense_G888R exm2035363 3 122632248 [G/C] NM_001256347,NM_001256348,NR_046079,NM_001256346,NM_001031702 SEMA5B,SEMA5B,SEMA5B,SEMA5B,SEMA5B EXON Missense_E822D,Missense_E710D,Silent,Missense_E768D,Missense_E768D exm343543 3 122634685 [A/G] NM_001256347,NM_001256348,NR_046079,NM_001256346,NM_001031702 SEMA5B,SEMA5B,SEMA5B,SEMA5B,SEMA5B EXON Missense_R635C,Missense_R523C,Silent,Missense_R581C,Missense_R581C exm343556 3 122640948 [A/G] NM_001256347,NM_001256348,NR_046079,NM_001256346,NM_001031702 SEMA5B,SEMA5B,SEMA5B,SEMA5B,SEMA5B EXON Missense_A555V,Missense_A443V,Silent,Missense_A501V,Missense_A501V exm343559 3 122641088 [G/C] NM_001256347,NM_001256348,NR_046079,NM_001256346,NM_001031702 SEMA5B,SEMA5B,SEMA5B,SEMA5B,SEMA5B EXON Synonymous_T547T,Synonymous_T435T,Silent,Synonymous_T493T,Synonymous_T493T exm343570 3 122642588 [G/C] NM_001256347,NM_001256348,NR_046079,NM_001256346,NM_001031702 SEMA5B,SEMA5B,SEMA5B,SEMA5B,SEMA5B EXON Missense_A437G,Missense_A325G,Silent,Missense_A383G,Missense_A383G exm2255651 3 122645241 [A/G] NM_001256347,NM_001256348,NR_046079,NM_001256346,NM_001031702 SEMA5B,SEMA5B,SEMA5B,SEMA5B,SEMA5B EXON Synonymous_N432N,Synonymous_N320N,Silent,Synonymous_N378N,Synonymous_N378N exm343585 3 122645440 [T/C] NM_001256347,NM_001256348,NR_046079,NM_001256346,NM_001031702 SEMA5B,SEMA5B,SEMA5B,SEMA5B,SEMA5B EXON Missense_R366H,Missense_R254H,Silent,Missense_R312H,Missense_R312H exm343588 3 122645509 [A/G] NM_001256347,NM_001256348,NR_046079,NM_001256346,NM_001031702 SEMA5B,SEMA5B,SEMA5B,SEMA5B,SEMA5B EXON Missense_A343V,Missense_A231V,Silent,Missense_A289V,Missense_A289V exm343591 3 122646675 [A/G] NM_001256347,NM_001256348,NR_046079,NM_001256346,NM_001031702 SEMA5B,SEMA5B,SEMA5B,SEMA5B,SEMA5B EXON Missense_P325L,Missense_P213L,Silent,Missense_P271L,Missense_P271L exm343603 3 122646828 [A/G] NM_001256347,NM_001256348,NR_046079,NM_001256346,NM_001031702 SEMA5B,SEMA5B,SEMA5B,SEMA5B,SEMA5B EXON Missense_I274T,Missense_I162T,Silent,Missense_I220T,Missense_I220T exm343605 3 122646835 [A/G] NM_001256347,NM_001256348,NR_046079,NM_001256346,NM_001031702 SEMA5B,SEMA5B,SEMA5B,SEMA5B,SEMA5B EXON Missense_R272W,Missense_R160W,Silent,Missense_R218W,Missense_R218W exm343615 3 122647877 [A/G] NM_001256347,NM_001256348,NR_046079,NM_001256346,NM_001031702 SEMA5B,SEMA5B,SEMA5B,SEMA5B,SEMA5B EXON Missense_T222M,Missense_T110M,Silent,Missense_T168M,Missense_T168M exm2265497 3 122649522 [A/G] NM_001256347,NM_001256348,NR_046079,NM_001256346,NM_001031702 SEMA5B,SEMA5B,SEMA5B,SEMA5B,SEMA5B Silent,Silent,Silent,Silent,Silent exm343622 3 122662308 [T/C] NM_001256347,NM_001256348,NR_046079,NM_001256346,NM_001031702 SEMA5B,SEMA5B,SEMA5B,SEMA5B,SEMA5B EXON Missense_G189R,Missense_G77R,Silent,Missense_G135R,Missense_G135R exm343627 3 122667353 [A/C] NM_001256347,NM_001256348,NR_046079,NM_001256346,NM_001031702 SEMA5B,SEMA5B,SEMA5B,SEMA5B,SEMA5B EXON Missense_D164Y,Missense_D52Y,Silent,Missense_D110Y,Missense_D110Y exm343630 3 122667454 [T/A] NM_001256347,NM_001256348,NR_046079,NM_001256346,NM_001031702 SEMA5B,SEMA5B,SEMA5B,SEMA5B,SEMA5B EXON Missense_L130Q,Missense_L18Q,Silent,Missense_L76Q,Missense_L76Q exm343632 3 122667532 [T/C] NM_001256347,NM_001256348,NR_046079,NM_001256346,NM_001031702 SEMA5B,SEMA5B,SEMA5B,SEMA5B,SEMA5B EXON Missense_G104E,Silent,Silent,Missense_G50E,Missense_G50E exm343639 3 122680016 [A/C] NM_001256347,NM_001256348,NR_046079,NM_001256346,NM_001031702 SEMA5B,SEMA5B,SEMA5B,SEMA5B,SEMA5B EXON Missense_V86G,Silent,Silent,Missense_V32G,Missense_V32G exm343642 3 122680034 [A/G] NM_001256347,NM_001256348,NR_046079,NM_001256346,NM_001031702 SEMA5B,SEMA5B,SEMA5B,SEMA5B,SEMA5B EXON Missense_L80P,Silent,Silent,Missense_L26P,Missense_L26P exm2035397 3 122680047 [T/G] NM_001256347,NM_001256348,NR_046079,NM_001256346,NM_001031702 SEMA5B,SEMA5B,SEMA5B,SEMA5B,SEMA5B EXON Missense_P76T,Silent,Silent,Missense_P22T,Missense_P22T exm343644 3 122680058 [A/G] NM_001256347,NM_001256348,NR_046079,NM_001256346,NM_001031702 SEMA5B,SEMA5B,SEMA5B,SEMA5B,SEMA5B EXON Missense_P72L,Silent,Silent,Missense_P18L,Missense_P18L exm2264035 3 122756601 [A/C] exm343672 3 122825664 [T/G] NM_006810,NR_028444 PDIA5,PDIA5 EXON Missense_D152E,Silent exm343676 3 122829825 [T/C] NM_006810,NR_028444 PDIA5,PDIA5 EXON Missense_P172L,Silent exm2238460 3 122829836 [A/C] NM_006810,NR_028444 PDIA5,PDIA5 EXON Missense_M176L,Silent exm343678 3 122829848 [T/C] NM_006810,NR_028444 PDIA5,PDIA5 EXON Missense_P180S,Silent exm343683 3 122835143 [A/G] NM_006810,NR_028444 PDIA5,PDIA5 EXON Missense_A203T,Silent exm343688 3 122842988 [A/G] NM_006810,NR_028444 PDIA5,PDIA5 EXON Missense_T229A,Silent exm343689 3 122842994 [A/T] NM_006810,NR_028444 PDIA5,PDIA5 EXON Missense_C231S,Silent exm343695 3 122843188 [G/C] NM_006810,NR_028444 PDIA5,PDIA5 EXON Missense_K257N,Silent exm343707 3 122849460 [G/C] NM_006810,NR_028444 PDIA5,PDIA5 EXON Missense_P303A,Silent exm2035419 3 122869110 [T/C] NM_006810,NR_028444 PDIA5,PDIA5 EXON Missense_T391M,Silent exm2277243 3 122869205 [C/G] NM_006810,NR_028444 PDIA5,PDIA5 EXON Missense_A423P,Silent exm343738 3 122869205 [A/G] NM_006810,NR_028444 PDIA5,PDIA5 EXON Missense_A423T,Silent exm343741 3 122873827 [T/A] NM_006810,NR_028444 PDIA5,PDIA5 EXON Missense_H428L,Silent exm343752 3 122880212 [C/G] NM_006810,NR_028444 PDIA5,PDIA5 EXON Missense_D463E,Silent exm343754 3 122880228 [A/G] NM_006810,NR_028444 PDIA5,PDIA5 EXON Missense_A469T,Silent exm2035430 3 122942470 [A/G] NM_012430 SEC22A EXON Missense_A83T exm343777 3 122944025 [T/G] NM_012430 SEC22A EXON Missense_M141R exm2273960 3 123003465 [A/G] NM_183357,NM_001199642 ADCY5,ADCY5 EXON Missense_P1259L,Missense_P909L exm343835 3 123010034 [T/C] NM_183357,NM_001199642 ADCY5,ADCY5 EXON Missense_V1085I,Missense_V735I exm343859 3 123019001 [T/C] NM_183357,NM_001199642 ADCY5,ADCY5 EXON Missense_D956N,Missense_D606N exm343860 3 123019022 [T/C] NM_183357,NM_001199642 ADCY5,ADCY5 EXON Missense_V949M,Missense_V599M exm343865 3 123019049 [T/C] NM_183357,NM_001199642 ADCY5,ADCY5 EXON Missense_E940K,Missense_E590K exm343876 3 123021952 [T/C] NM_183357,NM_001199642 ADCY5,ADCY5 EXON Missense_D892N,Missense_D542N exm343880 3 123021981 [A/G] NM_183357,NM_001199642 ADCY5,ADCY5 EXON Missense_A882V,Missense_A532V exm2035454 3 123022002 [T/C] NM_183357,NM_001199642 ADCY5,ADCY5 EXON Missense_Q875R,Missense_Q525R exm343884 3 123022006 [T/G] NM_183357,NM_001199642 ADCY5,ADCY5 EXON Missense_S874R,Missense_S524R exm343907 3 123033147 [A/G] NM_183357,NM_001199642 ADCY5,ADCY5 EXON Missense_Y793H,Missense_Y443H exm343910 3 123036874 [T/C] NM_183357,NM_001199642 ADCY5,ADCY5 EXON Missense_V783M,Missense_V433M exm343912 3 123036877 [T/C] NM_183357,NM_001199642 ADCY5,ADCY5 EXON Missense_I782V,Missense_I432V exm343931 3 123046510 [G/C] NM_183357,NM_001199642 ADCY5,ADCY5 EXON Missense_E634D,Missense_E284D exm-rs11708067 3 123065778 [A/G] NM_183357,NM_001199642 ADCY5,ADCY5 Silent,Silent exm343955 3 123071301 [A/G] NM_183357,NM_001199642 ADCY5,ADCY5 EXON Missense_S421L,Missense_S71L exm343958 3 123071389 [T/C] NM_183357,NM_001199642 ADCY5,ADCY5 EXON Missense_V392M,Missense_V42M exm-rs2877716 3 123094451 [T/C] NM_183357,NM_001199642 ADCY5,ADCY5 Silent,Silent exm-rs9883204 3 123096820 [T/C] NM_183357,NM_001199642 ADCY5,ADCY5 Silent,Silent exm343976 3 123166575 [A/G] NM_183357 ADCY5 EXON Missense_V273A exm2035501 3 123167263 [A/G] NM_183357 ADCY5 EXON Missense_H44Y exm2269519 3 123190731 [T/C] exm344004 3 123247241 [T/C] NM_198402 PTPLB EXON Missense_V125I exm2238466 3 123331143 [T/C] NR_038266,NM_053025,NM_053026,NM_053028,NM_053032,NM_053031,NM_053027 MYLK-AS1,MYLK,MYLK,MYLK,MYLK,MYLK,MYLK EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent exm344021 3 123332995 [A/G] NR_038266,NM_053025,NM_053026,NM_053028,NM_053032,NM_053031,NM_053027 MYLK-AS1,MYLK,MYLK,MYLK,MYLK,MYLK,MYLK EXON Silent,Missense_T1901M,Missense_T1832M,Missense_T1781M,Missense_T141M,Missense_T140M,Missense_T1850M exm344035 3 123337509 [A/G] NR_038266,NM_053025,NM_053026,NM_053028,NM_053032,NM_053031,NM_053027 MYLK-AS1,MYLK,MYLK,MYLK,MYLK,MYLK,MYLK EXON Silent,Missense_A1826V,Missense_A1757V,Missense_A1706V,Missense_A66V,Missense_A65V,Missense_A1775V exm344039 3 123337545 [A/G] NR_038266,NM_053025,NM_053026,NM_053028,NM_053032,NM_053031,NM_053027 MYLK-AS1,MYLK,MYLK,MYLK,MYLK,MYLK,MYLK EXON Silent,Missense_T1814I,Missense_T1745I,Missense_T1694I,Missense_T54I,Missense_T53I,Missense_T1763I exm344047 3 123339120 [T/C] NR_038266,NM_053025,NM_053026,NM_053028,NM_053032,NM_053031,NM_053027 MYLK-AS1,MYLK,MYLK,MYLK,MYLK,MYLK,MYLK EXON Silent,Missense_S1768G,Missense_S1699G,Missense_S1648G,Missense_S8G,Missense_S8G,Missense_S1717G exm2035532 3 123356997 [T/C] NM_053025,NM_053026,NM_053028,NM_053027 MYLK,MYLK,MYLK,MYLK EXON Missense_V1628M,Missense_V1559M,Missense_V1559M,Missense_V1628M exm344070 3 123357035 [A/G] NM_053025,NM_053026,NM_053028,NM_053027 MYLK,MYLK,MYLK,MYLK EXON Missense_A1615V,Missense_A1546V,Missense_A1546V,Missense_A1615V exm2269663 3 123362856 [T/C] NM_053025,NM_053026,NM_053028,NM_053027 MYLK,MYLK,MYLK,MYLK Silent,Silent,Silent,Silent exm344093 3 123367884 [T/C] NM_053025,NM_053026,NM_053028,NM_053027 MYLK,MYLK,MYLK,MYLK EXON Missense_R1450Q,Missense_R1381Q,Missense_R1381Q,Missense_R1450Q exm344094 3 123367885 [A/G] NM_053025,NM_053026,NM_053028,NM_053027 MYLK,MYLK,MYLK,MYLK EXON Missense_R1450W,Missense_R1381W,Missense_R1381W,Missense_R1450W exm344112 3 123376066 [T/C] NM_053025,NM_053026,NM_053028,NM_053027 MYLK,MYLK,MYLK,MYLK EXON Missense_E1399K,Missense_E1330K,Missense_E1330K,Missense_E1399K exm344121 3 123376274 [A/C] NM_053025,NM_053026,NM_053028,NM_053027 MYLK,MYLK,MYLK,MYLK EXON Missense_D1329E,Missense_D1260E,Missense_D1260E,Missense_D1329E exm344130 3 123383039 [T/C] NM_053025,NM_053026,NM_053028,NM_053027 MYLK,MYLK,MYLK,MYLK EXON Missense_A1300T,Missense_A1231T,Missense_A1231T,Missense_A1300T exm344134 3 123383069 [T/C] NM_053025,NM_053026,NM_053028,NM_053027 MYLK,MYLK,MYLK,MYLK EXON Missense_E1290K,Missense_E1221K,Missense_E1221K,Missense_E1290K exm344138 3 123385148 [T/C] NM_053025,NM_053026,NM_053028,NM_053027 MYLK,MYLK,MYLK,MYLK EXON Missense_R1250H,Missense_R1181H,Missense_R1181H,Missense_R1250H exm344140 3 123385191 [T/C] NM_053025,NM_053026,NM_053028,NM_053027 MYLK,MYLK,MYLK,MYLK EXON Missense_M1236V,Missense_M1167V,Missense_M1167V,Missense_M1236V exm344149 3 123401113 [A/G] NM_053025,NM_053026,NM_053028,NM_053027 MYLK,MYLK,MYLK,MYLK EXON Missense_R1204W,Missense_R1135W,Missense_R1135W,Missense_R1204W exm344156 3 123411611 [A/G] NM_053025,NM_053026,NM_053028,NM_053027 MYLK,MYLK,MYLK,MYLK EXON Missense_A1179V,Missense_A1110V,Missense_A1110V,Missense_A1179V exm-rs2605419 3 123414429 [T/C] NM_053025,NM_053026,NM_053028,NM_053027 MYLK,MYLK,MYLK,MYLK Silent,Silent,Silent,Silent exm344167 3 123419062 [T/C] NM_053025,NM_053026,NM_053028,NM_053027 MYLK,MYLK,MYLK,MYLK EXON Missense_T1085A,Missense_T1016A,Missense_T1016A,Missense_T1085A exm344195 3 123419573 [T/G] NM_053025,NM_053026,NM_053028,NM_053027 MYLK,MYLK,MYLK,MYLK EXON Missense_D914E,Missense_D845E,Missense_D845E,Missense_D914E exm344196 3 123419622 [T/C] NM_053025,NM_053026,NM_053028,NM_053027 MYLK,MYLK,MYLK,MYLK EXON Missense_R898Q,Missense_R829Q,Missense_R829Q,Missense_R898Q exm344211 3 123419841 [A/G] NM_053025,NM_053026,NM_053028,NM_053027 MYLK,MYLK,MYLK,MYLK EXON Missense_P825L,Missense_P756L,Missense_P756L,Missense_P825L exm344215 3 123420286 [A/G] NM_053025,NM_053026,NM_053028,NM_053027 MYLK,MYLK,MYLK,MYLK EXON Missense_R821W,Missense_R752W,Missense_R752W,Missense_R821W exm344235 3 123427560 [T/C] NM_053025,NM_053026,NM_053028,NM_053027 MYLK,MYLK,MYLK,MYLK EXON Missense_V709M,Missense_V640M,Missense_V640M,Missense_V709M exm344237 3 123427584 [T/C] NM_053025,NM_053026,NM_053028,NM_053027 MYLK,MYLK,MYLK,MYLK EXON Missense_A701T,Missense_A632T,Missense_A632T,Missense_A701T exm344267 3 123444811 [T/C] NM_053025,NM_053026,NM_053028,NM_053027 MYLK,MYLK,MYLK,MYLK EXON Missense_R544Q,Missense_R475Q,Missense_R475Q,Missense_R544Q exm344276 3 123451743 [T/C] NM_053025,NM_053026,NM_053028,NM_053027 MYLK,MYLK,MYLK,MYLK EXON Missense_R506G,Silent,Silent,Missense_R506G exm344279 3 123451773 [C/G] NM_053025,NM_053026,NM_053028,NM_053027 MYLK,MYLK,MYLK,MYLK EXON Missense_L496V,Silent,Silent,Missense_L496V exm344280 3 123451785 [T/C] NM_053025,NM_053026,NM_053028,NM_053027 MYLK,MYLK,MYLK,MYLK EXON Missense_A492T,Silent,Silent,Missense_A492T exm344284 3 123451932 [A/G] NM_053025,NM_053026,NM_053028,NM_053027 MYLK,MYLK,MYLK,MYLK EXON Missense_P443S,Silent,Silent,Missense_P443S exm344287 3 123452624 [A/C] NM_053025,NM_053026,NM_053028,NM_053027 MYLK,MYLK,MYLK,MYLK EXON Missense_G407C,Missense_G407C,Missense_G407C,Missense_G407C exm344293 3 123452711 [C/G] NM_053025,NM_053026,NM_053028,NM_053027 MYLK,MYLK,MYLK,MYLK EXON Missense_R378G,Missense_R378G,Missense_R378G,Missense_R378G exm344301 3 123452836 [A/G] NM_053025,NM_053026,NM_053028,NM_053027 MYLK,MYLK,MYLK,MYLK EXON Missense_P336L,Missense_P336L,Missense_P336L,Missense_P336L exm344312 3 123453001 [T/C] NM_053025,NM_053026,NM_053028,NM_053027 MYLK,MYLK,MYLK,MYLK EXON Missense_K281R,Missense_K281R,Missense_K281R,Missense_K281R exm344313 3 123453061 [A/G] NM_053025,NM_053026,NM_053028,NM_053027 MYLK,MYLK,MYLK,MYLK EXON Missense_V261A,Missense_V261A,Missense_V261A,Missense_V261A exm344336 3 123457763 [A/G] NM_053025,NM_053026,NM_053028,NM_053027 MYLK,MYLK,MYLK,MYLK EXON Missense_P190L,Missense_P190L,Missense_P190L,Missense_P190L exm344337 3 123457853 [C/G] NM_053025,NM_053026,NM_053028,NM_053027 MYLK,MYLK,MYLK,MYLK EXON Missense_P160R,Missense_P160R,Missense_P160R,Missense_P160R exm344342 3 123457877 [T/C] NM_053025,NM_053026,NM_053028,NM_053027 MYLK,MYLK,MYLK,MYLK EXON Missense_R152H,Missense_R152H,Missense_R152H,Missense_R152H exm344344 3 123457893 [A/G] NM_053025,NM_053026,NM_053028,NM_053027 MYLK,MYLK,MYLK,MYLK EXON Missense_P147S,Missense_P147S,Missense_P147S,Missense_P147S exm344349 3 123458823 [A/C] NM_053025,NM_053026,NM_053028,NM_053027 MYLK,MYLK,MYLK,MYLK EXON Missense_Q133H,Missense_Q133H,Missense_Q133H,Missense_Q133H exm344351 3 123458839 [A/G] NM_053025,NM_053026,NM_053028,NM_053027 MYLK,MYLK,MYLK,MYLK EXON Missense_A128V,Missense_A128V,Missense_A128V,Missense_A128V exm344354 3 123471207 [T/C] NM_053025,NM_053026,NM_053028,NM_053027 MYLK,MYLK,MYLK,MYLK EXON Missense_R115H,Missense_R115H,Missense_R115H,Missense_R115H exm344362 3 123471294 [T/C] NM_053025,NM_053026,NM_053028,NM_053027 MYLK,MYLK,MYLK,MYLK EXON Missense_R86Q,Missense_R86Q,Missense_R86Q,Missense_R86Q exm344364 3 123471306 [T/C] NM_053025,NM_053026,NM_053028,NM_053027 MYLK,MYLK,MYLK,MYLK EXON Missense_D82G,Missense_D82G,Missense_D82G,Missense_D82G exm344372 3 123512620 [A/T] NM_053025,NM_053026,NM_053028,NM_053027 MYLK,MYLK,MYLK,MYLK EXON Missense_R23S,Missense_R23S,Missense_R23S,Missense_R23S exm344374 3 123512627 [T/G] NM_053025,NM_053026,NM_053028,NM_053027 MYLK,MYLK,MYLK,MYLK EXON Missense_P21H,Missense_P21H,Missense_P21H,Missense_P21H exm2255654 3 123584488 [A/G] NM_053025,NM_053026,NM_053028,NM_053027 MYLK,MYLK,MYLK,MYLK Silent,Silent,Silent,Silent exm2035631 3 123633720 [T/C] NM_022757 CCDC14 EXON Missense_R882H exm344384 3 123633898 [T/C] NM_022757 CCDC14 EXON Missense_I823V exm2035634 3 123633951 [A/G] NM_022757 CCDC14 EXON Missense_S805F exm344387 3 123633990 [A/G] NM_022757 CCDC14 EXON Missense_S792F exm344392 3 123634107 [C/G] NM_022757 CCDC14 EXON Missense_S753C exm344400 3 123634285 [T/C] NM_022757 CCDC14 EXON Missense_N694D exm344401 3 123634294 [T/C] NM_022757 CCDC14 EXON Missense_G691S exm344404 3 123634400 [G/C] NM_022757 CCDC14 EXON Missense_K655N exm344408 3 123634509 [T/C] NM_022757 CCDC14 EXON Missense_R619H exm344411 3 123649985 [T/C] NM_022757 CCDC14 EXON Missense_R588H exm2035641 3 123650179 [T/G] NM_022757 CCDC14 EXON Missense_I548L exm344418 3 123650335 [A/G] NM_022757 CCDC14 EXON Nonsense_Q496X exm344425 3 123663699 [T/C] NM_022757 CCDC14 EXON Missense_R454Q exm344432 3 123665766 [T/C] NM_022757 CCDC14 EXON Missense_R369Q exm344436 3 123665859 [T/C] NM_022757 CCDC14 EXON Missense_Q338R exm344439 3 123665902 [T/G] NM_022757 CCDC14 EXON Missense_T324P exm344450 3 123667754 [A/G] NM_022757 CCDC14 EXON Missense_P200L exm2035662 3 123667760 [T/C] NM_022757 CCDC14 EXON Missense_H198R exm344452 3 123667820 [A/G] NM_022757 CCDC14 EXON Missense_S178L exm344454 3 123667857 [A/C] NM_022757 CCDC14 EXON Missense_Y166D exm344463 3 123675239 [A/T] NM_022757 CCDC14 EXON Missense_D89V exm344567 3 124017713 [A/G] NM_001024660,NM_003947 KALRN,KALRN EXON Missense_A347T,Missense_A347T exm344572 3 124044867 [T/C] NM_001024660,NM_003947 KALRN,KALRN EXON Missense_S376F,Missense_S376F exm344576 3 124045010 [T/G] NM_001024660,NM_003947 KALRN,KALRN EXON Missense_A424S,Missense_A424S exm2035691 3 124048784 [A/T] NM_001024660,NM_003947 KALRN,KALRN EXON Missense_L452Q,Missense_L452Q exm344584 3 124053205 [A/G] NM_001024660,NM_003947 KALRN,KALRN EXON Missense_K502E,Missense_K502E exm344586 3 124053260 [A/G] NM_001024660,NM_003947 KALRN,KALRN EXON Missense_R520Q,Missense_R520Q exm344596 3 124103870 [T/C] NM_001024660,NM_003947 KALRN,KALRN EXON Missense_T648I,Missense_T648I exm344638 3 124117549 [T/C] NM_001024660,NM_003947 KALRN,KALRN EXON Missense_S724L,Missense_S724L exm344672 3 124132324 [T/C] NM_001024660,NM_003947 KALRN,KALRN EXON Missense_A783V,Missense_A783V exm344693 3 124149591 [A/G] NM_001024660,NM_003947 KALRN,KALRN EXON Missense_R931Q,Missense_R931Q exm344699 3 124153209 [A/G] NM_001024660,NM_003947 KALRN,KALRN EXON Missense_Q960R,Missense_Q960R exm344703 3 124153250 [A/G] NM_001024660,NM_003947 KALRN,KALRN EXON Missense_A974T,Missense_A974T exm344719 3 124165674 [A/C] NM_001024660,NM_003947 KALRN,KALRN EXON Missense_T1163N,Missense_T1163N exm2035744 3 124174035 [G/C] NM_001024660,NM_003947 KALRN,KALRN EXON Missense_E1186D,Missense_E1186D exm344722 3 124174121 [T/C] NM_001024660,NM_003947 KALRN,KALRN EXON Missense_T1215M,Missense_T1215M exm344730 3 124175526 [A/G] NM_001024660,NM_003947 KALRN,KALRN EXON Missense_A1267T,Missense_A1267T exm-rs10433406 3 124192674 [A/C] NM_001024660,NM_003947 KALRN,KALRN Silent,Silent exm344752 3 124201668 [A/G] NM_001024660,NM_003947 KALRN,KALRN EXON Missense_R1400Q,Missense_R1400Q exm344779 3 124281690 [T/C] NM_001024660 KALRN EXON Missense_L1644F exm344788 3 124281829 [A/C] NM_001024660 KALRN EXON Missense_T1690N exm344790 3 124281844 [A/C] NM_001024660 KALRN EXON Missense_P1695Q exm344795 3 124281903 [A/G] NM_001024660 KALRN EXON Missense_V1715M exm344798 3 124303696 [T/C] NM_001024660,NM_007064 KALRN,KALRN EXON Silent,Nonsense_R10X exm2255656 3 124309338 [A/G] NM_001024660,NM_007064 KALRN,KALRN Silent,Silent exm344807 3 124351363 [T/C] NM_001024660,NM_007064 KALRN,KALRN EXON Missense_P1758L,Missense_P61L exm344810 3 124351459 [A/G] NM_001024660,NM_007064 KALRN,KALRN EXON Missense_Q1790R,Missense_Q93R exm344827 3 124356070 [T/G] NM_001024660,NM_007064 KALRN,KALRN EXON Missense_A1861S,Missense_A164S exm344829 3 124356082 [A/G] NM_001024660,NM_007064 KALRN,KALRN EXON Missense_A1865T,Missense_A168T exm344832 3 124356119 [A/G] NM_001024660,NM_007064 KALRN,KALRN EXON Missense_N1877S,Missense_N180S exm344836 3 124356148 [A/C] NM_001024660,NM_007064 KALRN,KALRN EXON Missense_L1887M,Missense_L190M exm344839 3 124369671 [T/C] NM_001024660,NM_007064 KALRN,KALRN EXON Missense_S1893L,Missense_S196L exm344847 3 124369782 [T/G] NM_001024660,NM_007064 KALRN,KALRN EXON Missense_R1930M,Missense_R233M exm344854 3 124376592 [T/C] NM_001024660,NM_007064 KALRN,KALRN EXON Missense_A1992V,Missense_A295V exm344855 3 124376650 [T/C] NM_001024660,NM_007064 KALRN,KALRN EXON Synonymous_H2011H,Synonymous_H314H exm344861 3 124377324 [A/G] NM_001024660,NM_007064 KALRN,KALRN EXON Missense_R2027H,Missense_R330H exm344862 3 124377326 [T/G] NM_001024660,NM_007064 KALRN,KALRN EXON Missense_S2028A,Missense_S331A exm344864 3 124377338 [A/G] NM_001024660,NM_007064 KALRN,KALRN EXON Missense_V2032I,Missense_V335I exm2255657 3 124385301 [T/C] NM_001024660,NM_007064 KALRN,KALRN EXON Synonymous_T2116T,Synonymous_T419T exm344879 3 124385342 [A/G] NM_001024660,NM_007064 KALRN,KALRN EXON Missense_Y2130C,Missense_Y433C exm344885 3 124385380 [A/C] NM_001024660,NM_007064 KALRN,KALRN EXON Missense_K2143Q,Missense_K446Q exm344896 3 124390569 [A/C] NM_001024660,NM_007064 KALRN,KALRN EXON Missense_P2255T,Missense_P558T exm344902 3 124390722 [A/G] NM_001024660,NM_007064 KALRN,KALRN EXON Missense_G2306R,Missense_G609R exm344905 3 124393226 [T/C] NM_001024660,NM_007064 KALRN,KALRN EXON Missense_C2320R,Missense_C623R exm344908 3 124393302 [A/G] NM_001024660,NM_007064 KALRN,KALRN EXON Missense_G2345D,Missense_G648D exm344951 3 124418847 [A/G] NM_001024660,NM_007064 KALRN,KALRN EXON Missense_E2655K,Missense_E958K exm344954 3 124418879 [T/C] NM_001024660,NM_007064 KALRN,KALRN EXON Synonymous_Y2665Y,Synonymous_Y968Y exm344958 3 124431782 [A/G] NM_001024660,NM_007064 KALRN,KALRN EXON Synonymous_R2692R,Synonymous_R995R exm344960 3 124431841 [T/G] NM_001024660,NM_007064 KALRN,KALRN EXON Missense_V2712G,Missense_V1015G exm344966 3 124431954 [G/C] NM_001024660,NM_007064 KALRN,KALRN EXON Missense_P2750A,Missense_P1053A exm2238484 3 124438274 [A/G] NM_001024660,NM_007064 KALRN,KALRN EXON Missense_N2973S,Missense_N1276S exm2035861 3 124438307 [A/G] NM_001024660,NM_007064 KALRN,KALRN EXON Missense_Q2984R,Missense_Q1287R exm344995 3 124449406 [A/G] NR_033434,NR_033437,NM_000373 UMPS,UMPS,UMPS EXON Silent,Silent,Missense_S30G exm345005 3 124456424 [A/G] NR_033434,NR_033437,NM_000373 UMPS,UMPS,UMPS EXON Silent,Silent,Missense_R107H exm345016 3 124456742 [G/C] NR_033434,NR_033437,NM_000373 UMPS,UMPS,UMPS EXON Silent,Silent,Missense_G213A exm345020 3 124456931 [A/G] NR_033434,NR_033437,NM_000373 UMPS,UMPS,UMPS EXON Silent,Silent,Missense_S276N exm345022 3 124456961 [T/A] NR_033434,NR_033437,NM_000373 UMPS,UMPS,UMPS EXON Silent,Silent,Missense_I286N exm345032 3 124458902 [T/G] NR_033434,NR_033437,NM_000373 UMPS,UMPS,UMPS EXON Silent,Silent,Missense_D338E exm345037 3 124459005 [T/G] NR_033434,NR_033437,NM_000373 UMPS,UMPS,UMPS EXON Silent,Silent,Missense_S373A exm345041 3 124459045 [T/C] NR_033434,NR_033437,NM_000373 UMPS,UMPS,UMPS EXON Silent,Silent,Missense_A386V exm2035881 3 124462785 [T/A] NR_033434,NR_033437,NM_000373 UMPS,UMPS,UMPS EXON Silent,Silent,Missense_N433Y exm2035882 3 124462804 [T/C] NR_033434,NR_033437,NM_000373 UMPS,UMPS,UMPS EXON Silent,Silent,Missense_I439T exm345049 3 124462813 [A/G] NR_033434,NR_033437,NM_000373 UMPS,UMPS,UMPS EXON Silent,Silent,Missense_R442Q exm345051 3 124462824 [A/G] NR_033434,NR_033437,NM_000373 UMPS,UMPS,UMPS EXON Silent,Silent,Missense_I446V exm345064 3 124483290 [T/C] NM_002213 ITGB5 EXON Missense_R751Q exm345078 3 124485151 [T/C] NM_002213 ITGB5 EXON Missense_A687T exm345083 3 124487911 [T/G] NM_002213 ITGB5 EXON Missense_T656P exm345090 3 124492666 [T/C] NM_002213 ITGB5 EXON Missense_G596D exm345100 3 124515354 [T/C] NM_002213 ITGB5 EXON Missense_R525H exm345106 3 124515454 [T/C] NM_002213 ITGB5 EXON Missense_G492S exm345108 3 124515496 [T/C] NM_002213 ITGB5 EXON Missense_G478R exm345123 3 124515636 [T/C] NM_002213 ITGB5 EXON Missense_R431Q exm345127 3 124527870 [A/G] NM_002213 ITGB5 EXON Missense_T421M exm2264036 3 124535635 [A/C] NM_002213 ITGB5 Silent exm345136 3 124540183 [T/C] NM_002213 ITGB5 EXON Missense_E307K exm345138 3 124540185 [T/C] NM_002213 ITGB5 EXON Missense_N306S exm345147 3 124560289 [A/G] NM_002213 ITGB5 EXON Missense_R241W exm345165 3 124567375 [T/C] NM_002213 ITGB5 EXON Missense_R131H exm345168 3 124578125 [A/T] NM_002213 ITGB5 EXON Missense_M109L exm345169 3 124578134 [T/C] NM_002213 ITGB5 EXON Missense_V106I exm2035921 3 124578170 [C/G] NM_002213 ITGB5 EXON Missense_L94V exm2035922 3 124578203 [A/C] NM_002213 ITGB5 EXON Missense_A83S exm345174 3 124578212 [G/C] NM_002213 ITGB5 EXON Missense_E80Q exm2035923 3 124578257 [T/C] NM_002213 ITGB5 EXON Missense_D65N exm345179 3 124578278 [A/G] NM_002213 ITGB5 EXON Missense_R58W exm345183 3 124592303 [T/C] NM_002213 ITGB5 EXON Missense_C49Y exm345193 3 124627024 [T/G] NM_033049 MUC13 EXON Missense_R502S exm345197 3 124627149 [T/C] NM_033049 MUC13 EXON Missense_E461K exm345218 3 124632082 [T/C] NM_033049 MUC13 EXON Missense_S363G exm345220 3 124632412 [T/C] NM_033049 MUC13 EXON Missense_V360I exm345223 3 124632448 [G/C] NM_033049 MUC13 EXON Missense_D348H exm345229 3 124632510 [T/C] NM_033049 MUC13 EXON Missense_Y327C exm345234 3 124635323 [A/G] NM_033049 MUC13 EXON Missense_S268P exm345237 3 124639097 [T/C] NM_033049 MUC13 EXON Missense_V261I exm345256 3 124646594 [A/G] NM_033049 MUC13 EXON Missense_I99T exm345274 3 124646837 [A/G] NM_033049 MUC13 EXON Missense_A18V exm345282 3 124692579 [T/C] NM_020733 HEG1 EXON Missense_Y1331C exm345292 3 124696725 [T/C] NM_020733 HEG1 EXON Missense_A1267T exm345302 3 124716596 [T/C] NM_020733 HEG1 EXON Missense_V1197I exm345304 3 124716640 [A/G] NM_020733 HEG1 EXON Missense_P1182L exm345307 3 124720710 [T/C] NM_020733 HEG1 EXON Missense_R1168K exm2035966 3 124721108 [T/C] NM_020733 HEG1 EXON Missense_A1117T exm345321 3 124724174 [A/C] NM_020733 HEG1 EXON Missense_F1078V exm345324 3 124728550 [G/C] NM_020733 HEG1 EXON Missense_L1064F exm345327 3 124728626 [A/G] NM_020733 HEG1 EXON Missense_M1039T exm345331 3 124729336 [T/C] NM_020733 HEG1 EXON Missense_R1007H exm345334 3 124729355 [T/C] NM_020733 HEG1 EXON Missense_V1001I exm345336 3 124731485 [G/C] NM_020733 HEG1 EXON Missense_V980L exm345340 3 124731553 [A/G] NM_020733 HEG1 EXON Missense_T957M exm345343 3 124731626 [T/C] NM_020733 HEG1 EXON Missense_V933I exm345346 3 124731689 [A/T] NM_020733 HEG1 EXON Missense_T912S exm345347 3 124731709 [T/C] NM_020733 HEG1 EXON Missense_R905Q exm345353 3 124731806 [T/C] NM_020733 HEG1 EXON Missense_V873I exm345354 3 124731812 [T/C] NM_020733 HEG1 EXON Missense_I871V exm345364 3 124732102 [T/C] NM_020733 HEG1 EXON Missense_Q774R exm345365 3 124732177 [G/C] NM_020733 HEG1 EXON Missense_R749T exm2035981 3 124732292 [T/G] NM_020733 HEG1 EXON Missense_P711T exm345374 3 124732334 [T/C] NM_020733 HEG1 EXON Missense_A697T exm345377 3 124732375 [T/C] NM_020733 HEG1 EXON Missense_Q683R exm345383 3 124732426 [A/G] NM_020733 HEG1 EXON Missense_S666F exm345385 3 124732495 [A/G] NM_020733 HEG1 EXON Missense_P643L exm345392 3 124732618 [A/G] NM_020733 HEG1 EXON Missense_F602S exm345394 3 124732739 [T/A] NM_020733 HEG1 EXON Missense_T562S exm345396 3 124732811 [T/C] NM_020733 HEG1 EXON Missense_V538M exm345399 3 124732829 [T/C] NM_020733 HEG1 EXON Missense_G532R exm345401 3 124732833 [A/G] NM_020733 HEG1 EXON Synonymous_I530I exm345403 3 124738107 [T/C] NM_020733 HEG1 EXON Synonymous_S529S exm345411 3 124738283 [T/C] NM_020733 HEG1 EXON Missense_G471R exm345430 3 124739863 [A/G] NM_020733 HEG1 EXON Missense_T342M exm2255660 3 124739922 [T/G] NM_020733 HEG1 EXON Synonymous_S322S exm345433 3 124739948 [T/C] NM_020733 HEG1 EXON Missense_N314D exm345434 3 124746049 [A/G] NM_020733 HEG1 EXON Missense_S305P exm345445 3 124746241 [G/C] NM_020733 HEG1 EXON Missense_G241R exm345451 3 124748073 [T/C] NM_020733 HEG1 EXON Missense_I192M exm345454 3 124748129 [T/C] NM_020733 HEG1 EXON Missense_G174S exm345456 3 124748159 [T/C] NM_020733 HEG1 EXON Missense_A164T exm345479 3 124802888 [T/C] NM_024628,NM_001195483 SLC12A8,SLC12A8 EXON Missense_R664Q,Missense_R664Q exm345483 3 124807188 [A/G] NM_024628,NM_001195483 SLC12A8,SLC12A8 EXON Missense_R650W,Missense_R650W exm345484 3 124810283 [T/C] NM_024628,NM_001195483 SLC12A8,SLC12A8 EXON Missense_G641R,Missense_G641R exm345486 3 124810295 [G/C] NM_024628,NM_001195483 SLC12A8,SLC12A8 EXON Missense_G637R,Missense_G637R exm345489 3 124810306 [T/C] NM_024628,NM_001195483 SLC12A8,SLC12A8 EXON Missense_R633Q,Missense_R633Q exm345497 3 124810955 [A/G] NM_024628,NM_001195483 SLC12A8,SLC12A8 EXON Missense_S598F,Missense_S598F exm345515 3 124826403 [T/C] NM_024628,NM_001195483 SLC12A8,SLC12A8 EXON Missense_E543K,Missense_E543K exm345516 3 124826408 [T/C] NM_024628,NM_001195483 SLC12A8,SLC12A8 EXON Missense_K541R,Missense_K541R exm345519 3 124826478 [T/C] NM_024628,NM_001195483 SLC12A8,SLC12A8 EXON Missense_E518K,Missense_E518K exm345522 3 124826536 [G/C] NM_024628,NM_001195483 SLC12A8,SLC12A8 EXON Missense_K498N,Missense_K498N exm345524 3 124826596 [A/C] NM_024628,NM_001195483 SLC12A8,SLC12A8 EXON Missense_R478S,Missense_R478S exm2255661 3 124826788 [T/C] NM_024628,NM_001195483 SLC12A8,SLC12A8 EXON Synonymous_P414P,Synonymous_P414P exm345534 3 124826801 [T/C] NM_024628,NM_001195483 SLC12A8,SLC12A8 EXON Missense_C410Y,Missense_C410Y exm345587 3 124854539 [A/G] NM_024628,NM_001195483 SLC12A8,SLC12A8 EXON Missense_F237S,Missense_F237S exm345620 3 124896625 [A/G] NM_024628,NM_001195483 SLC12A8,SLC12A8 EXON Missense_L195P,Missense_L195P exm345621 3 124896667 [T/C] NM_024628,NM_001195483 SLC12A8,SLC12A8 EXON Missense_R181H,Missense_R181H exm345622 3 124896668 [A/G] NM_024628,NM_001195483 SLC12A8,SLC12A8 EXON Missense_R181C,Missense_R181C exm345625 3 124896755 [T/C] NM_024628,NM_001195483 SLC12A8,SLC12A8 EXON Missense_G152R,Missense_G152R exm345641 3 124906136 [A/G] NM_024628,NM_001195483 SLC12A8,SLC12A8 EXON Missense_S112L,Missense_S112L exm2255662 3 124906162 [A/G] NM_024628,NM_001195483 SLC12A8,SLC12A8 EXON Synonymous_S103S,Synonymous_S103S exm345646 3 124906167 [T/C] NM_024628,NM_001195483 SLC12A8,SLC12A8 EXON Missense_G102S,Missense_G102S exm345652 3 124906235 [A/G] NM_024628,NM_001195483 SLC12A8,SLC12A8 EXON Missense_S79F,Missense_S79F exm345662 3 124930167 [G/C] NM_024628,NM_001195483 SLC12A8,SLC12A8 EXON Missense_E9D,Missense_E9D exm2265617 3 124938103 [A/G] exm345674 3 124951699 [T/C] NM_021964 ZNF148 EXON Missense_N624S exm345675 3 124951807 [T/C] NM_021964 ZNF148 EXON Missense_G588E exm345694 3 124952611 [A/G] NM_021964 ZNF148 EXON Missense_T320M exm345713 3 125032366 [C/G] NM_021964 ZNF148 EXON Missense_G40A exm345720 3 125166661 [T/C] NR_073435,NM_003794 SNX4,SNX4 EXON Silent,Missense_V439I exm345734 3 125176183 [A/G] NR_073435,NM_003794 SNX4,SNX4 EXON Silent,Missense_M324T exm2269520 3 125182246 [T/C] NR_073435,NM_003794 SNX4,SNX4 Silent,Silent exm345740 3 125188298 [A/G] NR_073435,NM_003794 SNX4,SNX4 EXON Silent,Missense_V285A exm345778 3 125250737 [T/C] NM_022776 OSBPL11 EXON Missense_T716A exm345781 3 125250775 [T/C] NM_022776 OSBPL11 EXON Missense_R703H exm345798 3 125271280 [T/C] NM_022776 OSBPL11 EXON Missense_E467K exm345799 3 125271349 [T/C] NM_022776 OSBPL11 EXON Missense_I444V exm345811 3 125282610 [T/G] NM_022776 OSBPL11 EXON Missense_T316P exm345835 3 125313552 [T/G] NM_022776 OSBPL11 EXON Missense_N31K exm2036138 3 125313635 [A/C] NM_022776 OSBPL11 EXON Missense_G4C exm2036178 3 125652537 [A/G] NM_001195223,NM_001015050 ALG1L,ALG1L EXON Missense_S14L,Silent exm2036180 3 125690885 [A/G] NM_001012337 ROPN1B Silent exm346005 3 125702113 [T/G] NM_001012337 ROPN1B EXON Missense_L197V exm346007 3 125702134 [A/C] NM_001012337 ROPN1B EXON Missense_T204P exm346011 3 125725272 [T/A] NM_001008487,NM_001164475,NM_001008485,NM_017836,NM_001008486 SLC41A3,SLC41A3,SLC41A3,SLC41A3,SLC41A3 EXON Silent,Silent,Nonsense_L501X,Silent,Nonsense_L465X exm2036204 3 125726016 [T/C] NM_001008487,NM_001164475,NM_001008485,NM_017836,NM_001008486 SLC41A3,SLC41A3,SLC41A3,SLC41A3,SLC41A3 EXON Missense_Q410R,Missense_Q319R,Missense_Q436R,Missense_Q436R,Missense_Q400R exm346029 3 125727669 [A/T] NM_001008487,NM_001164475,NM_001008485,NM_017836,NM_001008486 SLC41A3,SLC41A3,SLC41A3,SLC41A3,SLC41A3 EXON Missense_L361Q,Missense_L270Q,Missense_L387Q,Missense_L387Q,Missense_L351Q exm346032 3 125727710 [T/C] NM_001008487,NM_001164475,NM_001008485,NM_017836,NM_001008486 SLC41A3,SLC41A3,SLC41A3,SLC41A3,SLC41A3 EXON Missense_M347I,Missense_M256I,Missense_M373I,Missense_M373I,Missense_M337I exm346036 3 125731518 [T/C] NM_001008487,NM_001164475,NM_001008485,NM_017836,NM_001008486 SLC41A3,SLC41A3,SLC41A3,SLC41A3,SLC41A3 EXON Missense_V323I,Missense_V232I,Missense_V349I,Missense_V349I,Missense_V313I exm346040 3 125734340 [T/A] NM_001008487,NM_001164475,NM_001008485,NM_017836,NM_001008486 SLC41A3,SLC41A3,SLC41A3,SLC41A3,SLC41A3 EXON Missense_C297S,Missense_C206S,Missense_C323S,Missense_C323S,Missense_C287S exm346041 3 125734346 [T/C] NM_001008487,NM_001164475,NM_001008485,NM_017836,NM_001008486 SLC41A3,SLC41A3,SLC41A3,SLC41A3,SLC41A3 EXON Missense_V295I,Missense_V204I,Missense_V321I,Missense_V321I,Missense_V285I exm346048 3 125735613 [A/G] NM_001008487,NM_001164475,NM_001008485,NM_017836,NM_001008486 SLC41A3,SLC41A3,SLC41A3,SLC41A3,SLC41A3 EXON Missense_F258S,Missense_F167S,Missense_F284S,Missense_F284S,Missense_F248S exm346049 3 125735629 [T/C] NM_001008487,NM_001164475,NM_001008485,NM_017836,NM_001008486 SLC41A3,SLC41A3,SLC41A3,SLC41A3,SLC41A3 EXON Missense_V253M,Missense_V162M,Missense_V279M,Missense_V279M,Missense_V243M exm346053 3 125735679 [A/G] NM_001008487,NM_001164475,NM_001008485,NM_017836,NM_001008486 SLC41A3,SLC41A3,SLC41A3,SLC41A3,SLC41A3 EXON Missense_A236V,Missense_A145V,Missense_A262V,Missense_A262V,Missense_A226V exm346058 3 125741740 [T/G] NM_001008487,NM_001164475,NM_001008485,NM_017836,NM_001008486 SLC41A3,SLC41A3,SLC41A3,SLC41A3,SLC41A3 EXON Missense_K186Q,Missense_K95Q,Missense_K212Q,Missense_K212Q,Missense_K176Q exm346083 3 125769847 [A/G] NM_001008487,NM_001164475,NM_001008485,NM_017836,NM_001008486 SLC41A3,SLC41A3,SLC41A3,SLC41A3,SLC41A3 EXON Missense_P81L,Silent,Missense_P107L,Missense_P107L,Silent exm346089 3 125775266 [T/C] NM_001008487,NM_001164475,NM_001008485,NM_017836,NM_001008486 SLC41A3,SLC41A3,SLC41A3,SLC41A3,SLC41A3 EXON Missense_V44M,Silent,Silent,Silent,Silent exm346101 3 125786791 [T/C] NM_001164475,NM_001008485,NM_017836,NM_001008486 SLC41A3,SLC41A3,SLC41A3,SLC41A3 EXON Silent,Missense_Q91R,Missense_Q91R,Missense_Q91R exm346107 3 125786852 [T/C] NM_001164475,NM_001008485,NM_017836,NM_001008486 SLC41A3,SLC41A3,SLC41A3,SLC41A3 EXON Silent,Missense_V71M,Missense_V71M,Missense_V71M exm346109 3 125786879 [T/C] NM_001164475,NM_001008485,NM_017836,NM_001008486 SLC41A3,SLC41A3,SLC41A3,SLC41A3 EXON Silent,Missense_T62A,Missense_T62A,Missense_T62A exm346129 3 125824595 [T/C] NM_001270365,NR_072979,NM_012190,NM_001270364,NR_046602 ALDH1L1,ALDH1L1,ALDH1L1,ALDH1L1,ALDH1L1-AS1 EXON Missense_K775R,Silent,Missense_K876R,Missense_K886R,Silent exm346138 3 125824719 [A/C] NM_001270365,NR_072979,NM_012190,NM_001270364,NR_046602 ALDH1L1,ALDH1L1,ALDH1L1,ALDH1L1,ALDH1L1-AS1 EXON Missense_A734S,Silent,Missense_A835S,Missense_A845S,Silent exm346144 3 125826003 [T/C] NM_001270365,NR_072979,NM_012190,NM_001270364,NR_046602 ALDH1L1,ALDH1L1,ALDH1L1,ALDH1L1,ALDH1L1-AS1 EXON Missense_I711V,Silent,Missense_I812V,Missense_I822V,Silent exm346148 3 125826057 [T/C] NM_001270365,NR_072979,NM_012190,NM_001270364,NR_046602 ALDH1L1,ALDH1L1,ALDH1L1,ALDH1L1,ALDH1L1-AS1 EXON Missense_V693M,Silent,Missense_V794M,Missense_V804M,Silent exm346149 3 125826059 [T/C] NM_001270365,NR_072979,NM_012190,NM_001270364,NR_046602 ALDH1L1,ALDH1L1,ALDH1L1,ALDH1L1,ALDH1L1-AS1 EXON Missense_D692G,Silent,Missense_D793G,Missense_D803G,Silent exm346151 3 125826072 [T/C] NM_001270365,NR_072979,NM_012190,NM_001270364,NR_046602 ALDH1L1,ALDH1L1,ALDH1L1,ALDH1L1,ALDH1L1-AS1 EXON Missense_T688A,Silent,Missense_T789A,Missense_T799A,Silent exm346158 3 125828823 [T/C] NM_001270365,NR_072979,NM_012190,NM_001270364 ALDH1L1,ALDH1L1,ALDH1L1,ALDH1L1 EXON Missense_T670A,Silent,Missense_T771A,Missense_T781A exm346159 3 125828838 [T/C] NM_001270365,NR_072979,NM_012190,NM_001270364 ALDH1L1,ALDH1L1,ALDH1L1,ALDH1L1 EXON Missense_V665M,Silent,Missense_V766M,Missense_V776M exm346164 3 125828918 [A/G] NM_001270365,NR_072979,NM_012190,NM_001270364 ALDH1L1,ALDH1L1,ALDH1L1,ALDH1L1 EXON Missense_P638L,Silent,Missense_P739L,Missense_P749L exm346168 3 125831633 [G/C] NM_001270365,NR_072979,NM_012190,NM_001270364 ALDH1L1,ALDH1L1,ALDH1L1,ALDH1L1 EXON Missense_R624G,Silent,Missense_R725G,Missense_R735G exm346170 3 125833399 [C/G] NM_001270365,NR_072979,NM_012190,NM_001270364 ALDH1L1,ALDH1L1,ALDH1L1,ALDH1L1 Silent,Silent,Silent,Silent exm346194 3 125843294 [T/C] NM_001270365,NR_072979,NM_012190,NM_001270364 ALDH1L1,ALDH1L1,ALDH1L1,ALDH1L1 EXON Missense_V500M,Silent,Missense_V601M,Missense_V611M exm346201 3 125849099 [T/C] NM_001270365,NR_072979,NM_012190,NM_001270364 ALDH1L1,ALDH1L1,ALDH1L1,ALDH1L1 EXON Missense_R453H,Silent,Missense_R554H,Missense_R564H exm346204 3 125850241 [A/C] NM_001270365,NR_072979,NM_012190,NM_001270364 ALDH1L1,ALDH1L1,ALDH1L1,ALDH1L1 EXON Missense_C436G,Silent,Missense_C537G,Missense_C547G exm346218 3 125854390 [T/C] NM_001270365,NR_072979,NM_012190,NM_001270364 ALDH1L1,ALDH1L1,ALDH1L1,ALDH1L1 EXON Missense_R386Q,Silent,Missense_R487Q,Missense_R497Q exm346223 3 125854409 [T/C] NM_001270365,NR_072979,NM_012190,NM_001270364 ALDH1L1,ALDH1L1,ALDH1L1,ALDH1L1 EXON Missense_S380G,Silent,Missense_S481G,Missense_S491G exm346226 3 125854466 [T/C] NM_001270365,NR_072979,NM_012190,NM_001270364 ALDH1L1,ALDH1L1,ALDH1L1,ALDH1L1 EXON Missense_D361N,Silent,Missense_D462N,Missense_D472N exm346230 3 125855608 [T/C] NM_001270365,NR_072979,NM_012190,NM_001270364 ALDH1L1,ALDH1L1,ALDH1L1,ALDH1L1 EXON Missense_S347N,Silent,Missense_S448N,Missense_S458N exm346234 3 125855645 [T/C] NM_001270365,NR_072979,NM_012190,NM_001270364 ALDH1L1,ALDH1L1,ALDH1L1,ALDH1L1 EXON Missense_A335T,Silent,Missense_A436T,Missense_A446T exm346245 3 125855726 [T/C] NM_001270365,NR_072979,NM_012190,NM_001270364 ALDH1L1,ALDH1L1,ALDH1L1,ALDH1L1 EXON Missense_V308M,Silent,Missense_V409M,Missense_V419M exm2036295 3 125856656 [A/G] NM_001270365,NR_072979,NM_012190,NM_001270364 ALDH1L1,ALDH1L1,ALDH1L1,ALDH1L1 EXON Synonymous_Y307Y,Silent,Synonymous_Y408Y,Synonymous_Y418Y exm346267 3 125865685 [T/C] NM_001270365,NR_072979,NM_012190,NM_001270364 ALDH1L1,ALDH1L1,ALDH1L1,ALDH1L1 EXON Missense_V256I,Silent,Missense_V357I,Missense_V367I exm346270 3 125865723 [A/G] NM_001270365,NR_072979,NM_012190,NM_001270364 ALDH1L1,ALDH1L1,ALDH1L1,ALDH1L1 EXON Missense_S243F,Silent,Missense_S344F,Missense_S354F exm346272 3 125865756 [T/C] NM_001270365,NR_072979,NM_012190,NM_001270364 ALDH1L1,ALDH1L1,ALDH1L1,ALDH1L1 EXON Missense_R232Q,Silent,Missense_R333Q,Missense_R343Q exm346273 3 125865766 [A/C] NM_001270365,NR_072979,NM_012190,NM_001270364 ALDH1L1,ALDH1L1,ALDH1L1,ALDH1L1 EXON Missense_V229F,Silent,Missense_V330F,Missense_V340F exm2265501 3 125867617 [A/G] NM_001270365,NR_072979,NM_012190,NM_001270364 ALDH1L1,ALDH1L1,ALDH1L1,ALDH1L1 Silent,Silent,Silent,Silent exm346286 3 125869336 [A/C] NM_001270365,NR_072979,NM_012190,NM_001270364 ALDH1L1,ALDH1L1,ALDH1L1,ALDH1L1 EXON Missense_M198I,Silent,Missense_M299I,Missense_M309I exm346288 3 125869354 [A/C] NM_001270365,NR_072979,NM_012190,NM_001270364 ALDH1L1,ALDH1L1,ALDH1L1,ALDH1L1 EXON Missense_Q192H,Silent,Missense_Q293H,Missense_Q303H exm346295 3 125872366 [T/G] NM_001270365,NR_072979,NM_012190,NM_001270364 ALDH1L1,ALDH1L1,ALDH1L1,ALDH1L1 EXON Missense_A159D,Silent,Missense_A260D,Missense_A270D exm346296 3 125872376 [T/C] NM_001270365,NR_072979,NM_012190,NM_001270364 ALDH1L1,ALDH1L1,ALDH1L1,ALDH1L1 EXON Missense_E156K,Silent,Missense_E257K,Missense_E267K exm346298 3 125872384 [A/G] NM_001270365,NR_072979,NM_012190,NM_001270364 ALDH1L1,ALDH1L1,ALDH1L1,ALDH1L1 EXON Missense_L153P,Silent,Missense_L254P,Missense_L264P exm346304 3 125873404 [T/C] NM_001270365,NR_072979,NM_012190,NM_001270364 ALDH1L1,ALDH1L1,ALDH1L1,ALDH1L1 EXON Missense_C137Y,Silent,Missense_C238Y,Missense_C248Y exm346335 3 125877264 [T/C] NM_001270365,NR_072979,NM_012190,NM_001270364 ALDH1L1,ALDH1L1,ALDH1L1,ALDH1L1 EXON Missense_A116T,Silent,Missense_A116T,Missense_A126T exm346338 3 125877270 [A/G] NM_001270365,NR_072979,NM_012190,NM_001270364 ALDH1L1,ALDH1L1,ALDH1L1,ALDH1L1 EXON Nonsense_R114X,Silent,Nonsense_R114X,Nonsense_R124X exm346339 3 125877290 [A/G] NM_001270365,NR_072979,NM_012190,NM_001270364 ALDH1L1,ALDH1L1,ALDH1L1,ALDH1L1 EXON Missense_P107L,Silent,Missense_P107L,Missense_P117L exm346341 3 125877314 [T/C] NM_001270365,NR_072979,NM_012190,NM_001270364 ALDH1L1,ALDH1L1,ALDH1L1,ALDH1L1 EXON Missense_R99Q,Silent,Missense_R99Q,Missense_R109Q exm346354 3 125877455 [A/G] NM_001270365,NR_072979,NM_012190,NM_001270364 ALDH1L1,ALDH1L1,ALDH1L1,ALDH1L1 EXON Missense_P52L,Silent,Missense_P52L,Missense_P62L exm346358 3 125879703 [T/G] NM_001270365,NR_072979,NM_012190,NM_001270364 ALDH1L1,ALDH1L1,ALDH1L1,ALDH1L1 EXON Missense_D40E,Silent,Missense_D40E,Missense_D50E exm346359 3 125879705 [T/C] NM_001270365,NR_072979,NM_012190,NM_001270364 ALDH1L1,ALDH1L1,ALDH1L1,ALDH1L1 EXON Missense_D40N,Silent,Missense_D40N,Missense_D50N exm346361 3 125879755 [T/C] NM_001270365,NR_072979,NM_012190,NM_001270364 ALDH1L1,ALDH1L1,ALDH1L1,ALDH1L1 EXON Missense_G23D,Silent,Missense_G23D,Missense_G33D exm2269664 3 125983396 [T/G] exm2269521 3 125997198 [T/C] exm346401 3 126070736 [A/G] NM_014079 KLF15 EXON Missense_R344W exm346402 3 126070823 [T/C] NM_014079 KLF15 EXON Missense_A315T exm346408 3 126071170 [A/G] NM_014079 KLF15 EXON Missense_A199V exm346410 3 126071195 [A/G] NM_014079 KLF15 EXON Missense_R191C exm346415 3 126071362 [A/C] NM_014079 KLF15 EXON Missense_R135L exm346422 3 126071431 [A/G] NM_014079 KLF15 EXON Missense_A112V exm346423 3 126071434 [A/G] NM_014079 KLF15 EXON Missense_A111V exm346427 3 126071600 [T/C] NM_014079 KLF15 EXON Missense_D56N exm346451 3 126132999 [A/C] NM_182628 CCDC37 EXON Missense_Q68K exm346453 3 126133023 [A/G] NM_182628 CCDC37 Silent exm346462 3 126135332 [A/G] NM_182628 CCDC37 EXON Nonsense_W133X exm346471 3 126137472 [T/C] NM_182628 CCDC37 EXON Missense_R169W exm346478 3 126137547 [A/G] NM_182628 CCDC37 EXON Missense_E194K exm346480 3 126137556 [A/G] NM_182628 CCDC37 EXON Missense_A197T exm346482 3 126137560 [G/C] NM_182628 CCDC37 EXON Missense_A198G exm346484 3 126137571 [A/G] NM_182628 CCDC37 EXON Missense_E202K exm346489 3 126137618 [A/G] NM_182628 CCDC37 Silent exm346490 3 126137966 [A/G] NM_182628 CCDC37 EXON Missense_R233Q exm346504 3 126138949 [A/G] NM_182628 CCDC37 EXON Missense_G320D exm346505 3 126138988 [T/C] NM_182628 CCDC37 EXON Missense_M333T exm346508 3 126138999 [G/C] NM_182628 CCDC37 EXON Missense_R337G exm346509 3 126139000 [A/G] NM_182628 CCDC37 EXON Missense_R337Q exm346511 3 126139024 [T/C] NM_182628 CCDC37 EXON Missense_P345L exm346516 3 126142191 [T/C] NM_182628 CCDC37 EXON Missense_T369M exm2036387 3 126142479 [T/G] NM_182628 CCDC37 EXON Missense_Q426H exm-IND3-127634621 3 126151932 [I/D] NM_182628 CCDC37 EXON exm346537 3 126152027 [A/G] NM_182628 CCDC37 EXON Missense_E468K exm346553 3 126153193 [A/G] NM_182628 CCDC37 EXON Missense_E533K exm2036403 3 126154470 [A/G] NM_182628 CCDC37 EXON Missense_R566H exm2036405 3 126154472 [A/G] NM_182628 CCDC37 EXON Missense_A567T exm346572 3 126155161 [T/C] NM_182628 CCDC37 EXON Nonsense_R584X exm346587 3 126158496 [T/G] NM_025112 ZXDC EXON Missense_D823E exm346619 3 126178497 [T/C] NM_025112,NM_001040653 ZXDC,ZXDC EXON Synonymous_A737A,Silent exm2036424 3 126180382 [T/C] NM_025112,NM_001040653 ZXDC,ZXDC EXON Missense_Y708C,Missense_Y708C exm346628 3 126180503 [A/G] NM_025112,NM_001040653 ZXDC,ZXDC EXON Missense_R668C,Missense_R668C exm346635 3 126180556 [G/C] NM_025112,NM_001040653 ZXDC,ZXDC EXON Missense_A650G,Missense_A650G exm2036425 3 126180577 [A/G] NM_025112,NM_001040653 ZXDC,ZXDC EXON Missense_S643L,Missense_S643L exm346640 3 126180691 [T/C] NM_025112,NM_001040653 ZXDC,ZXDC EXON Missense_S605N,Missense_S605N exm346648 3 126180826 [A/G] NM_025112,NM_001040653 ZXDC,ZXDC EXON Missense_L560P,Missense_L560P exm346649 3 126180849 [T/G] NM_025112,NM_001040653 ZXDC,ZXDC EXON Missense_N552K,Missense_N552K exm346650 3 126180850 [T/C] NM_025112,NM_001040653 ZXDC,ZXDC EXON Missense_N552S,Missense_N552S exm346658 3 126181042 [A/G] NM_025112,NM_001040653 ZXDC,ZXDC EXON Missense_A488V,Missense_A488V exm2255668 3 126191011 [A/G] NM_025112,NM_001040653 ZXDC,ZXDC EXON Synonymous_L349L,Synonymous_L349L exm346679 3 126191092 [A/G] NM_025112,NM_001040653 ZXDC,ZXDC EXON Missense_F322L,Missense_F322L exm346684 3 126193913 [T/C] NM_025112,NM_001040653 ZXDC,ZXDC EXON Missense_S266G,Missense_S266G exm346686 3 126193994 [T/C] NM_025112,NM_001040653 ZXDC,ZXDC EXON Missense_G239S,Missense_G239S exm346689 3 126194083 [T/C] NM_025112,NM_001040653 ZXDC,ZXDC EXON Missense_K209R,Missense_K209R exm346711 3 126201221 [A/G] NM_144639,NM_001165974 UROC1,UROC1 EXON Synonymous_D666D,Synonymous_D726D exm346713 3 126201291 [T/C] NM_144639,NM_001165974 UROC1,UROC1 EXON Missense_Y643C,Missense_Y703C exm346729 3 126207048 [T/C] NM_144639,NM_001165974 UROC1,UROC1 EXON Missense_V595M,Missense_V655M exm346736 3 126208137 [T/C] NM_144639,NM_001165974 UROC1,UROC1 EXON Missense_G564S,Missense_G624S exm346753 3 126214885 [T/C] NM_144639,NM_001165974 UROC1,UROC1 EXON Missense_R502Q,Missense_R562Q exm346756 3 126214903 [T/C] NM_144639,NM_001165974 UROC1,UROC1 EXON Missense_R496Q,Missense_R556Q exm346760 3 126216909 [T/C] NM_144639,NM_001165974 UROC1,UROC1 EXON Missense_A475T,Missense_A535T exm346766 3 126216983 [T/C] NM_144639,NM_001165974 UROC1,UROC1 EXON Missense_R450H,Missense_R510H exm346773 3 126218210 [T/C] NM_144639,NM_001165974 UROC1,UROC1 EXON Missense_R429H,Missense_R489H exm346774 3 126218211 [A/G] NM_144639,NM_001165974 UROC1,UROC1 EXON Missense_R429C,Missense_R489C exm346775 3 126218231 [T/C] NM_144639,NM_001165974 UROC1,UROC1 EXON Missense_G422D,Missense_G482D exm346778 3 126218903 [T/C] NM_144639,NM_001165974 UROC1,UROC1 EXON Missense_A414T,Missense_A474T exm2036467 3 126219566 [T/C] NM_144639,NM_001165974 UROC1,UROC1 EXON Missense_A373T,Missense_A433T exm346785 3 126219598 [A/G] NM_144639,NM_001165974 UROC1,UROC1 EXON Missense_T362M,Missense_T422M exm346807 3 126222856 [T/C] NM_144639,NM_001165974 UROC1,UROC1 EXON Missense_R295H,Missense_R295H exm346809 3 126222885 [T/C] NM_144639,NM_001165974 UROC1,UROC1 EXON Nonsense_W285X,Nonsense_W285X exm346810 3 126222886 [T/C] NM_144639,NM_001165974 UROC1,UROC1 EXON Nonsense_W285X,Nonsense_W285X exm2273963 3 126224550 [T/C] NM_144639,NM_001165974 UROC1,UROC1 EXON Missense_I269M,Missense_I269M exm346815 3 126224601 [T/C] NM_144639,NM_001165974 UROC1,UROC1 EXON Missense_M252I,Missense_M252I exm346824 3 126226625 [A/G] NM_144639,NM_001165974 UROC1,UROC1 EXON Missense_R188W,Missense_R188W exm346834 3 126227314 [G/C] NM_144639,NM_001165974 UROC1,UROC1 EXON Missense_P119R,Missense_P119R exm346837 3 126228436 [T/C] NM_144639,NM_001165974 UROC1,UROC1 EXON Missense_V115M,Missense_V115M exm346849 3 126229571 [A/C] NM_144639,NM_001165974 UROC1,UROC1 EXON Missense_A65S,Missense_A65S exm346857 3 126236523 [A/G] NM_144639,NM_001165974 UROC1,UROC1 EXON Missense_R14W,Missense_R14W exm346859 3 126236546 [A/G] NM_144639,NM_001165974 UROC1,UROC1 EXON Missense_A6V,Missense_A6V exm346861 3 126255166 [C/G] NM_152889 CHST13 EXON Missense_S50R exm346869 3 126260772 [T/C] NM_152889 CHST13 EXON Missense_A126V exm346886 3 126261077 [T/G] NM_152889 CHST13 EXON Missense_F228V exm346900 3 126261332 [T/C] NM_152889 CHST13 EXON Missense_P313S exm346901 3 126261345 [A/G] NM_152889 CHST13 EXON Missense_R317Q exm2036538 3 126270861 [A/G] NM_152533 C3orf22 EXON Missense_T65M exm346915 3 126270897 [A/G] NM_152533 C3orf22 EXON Missense_T53M exm346917 3 126270943 [T/C] NM_152533 C3orf22 EXON Missense_D38N exm346921 3 126272151 [A/G] NM_152533 C3orf22 EXON Missense_P28L exm346922 3 126272160 [T/C] NM_152533 C3orf22 EXON Missense_K25R exm346943 3 126291298 [A/C] NM_001039783 TXNRD3NB EXON Missense_S30I exm346945 3 126291352 [A/G] NM_001039783 TXNRD3NB EXON Missense_P12L exm346955 3 126329885 [A/C] NM_052883,NM_001173513 TXNRD3,TXNRD3 EXON Missense_D575Y,Missense_D539Y exm346962 3 126363199 [C/G] NM_052883,NM_001173513 TXNRD3,TXNRD3 EXON Missense_A154P,Missense_A154P exm346966 3 126423192 [A/T] NM_032343 CHCHD6 EXON Missense_S13T exm346971 3 126445921 [T/C] NM_032343 CHCHD6 EXON Synonymous_L30L exm346974 3 126445975 [T/C] NM_032343 CHCHD6 EXON Missense_P48S exm346981 3 126451937 [T/G] NM_032343 CHCHD6 EXON Missense_A95S exm346982 3 126451955 [T/C] NM_032343 CHCHD6 EXON Missense_L101F exm346989 3 126571529 [T/C] NM_032343 CHCHD6 EXON Missense_R151C exm346990 3 126571530 [A/G] NM_032343 CHCHD6 EXON Missense_R151H exm346991 3 126571571 [A/C] NM_032343 CHCHD6 EXON Missense_K165Q exm346995 3 126633594 [A/G] NM_032343 CHCHD6 Silent exm346996 3 126676264 [A/G] NM_032343 CHCHD6 EXON Missense_R191H exm346997 3 126676268 [T/G] NM_032343 CHCHD6 EXON Missense_R192S exm347000 3 126676278 [A/G] NM_032343 CHCHD6 EXON Missense_V196I exm347003 3 126676314 [T/C] NM_032343 CHCHD6 EXON Missense_Y208H exm347006 3 126676329 [T/C] NM_032343 CHCHD6 EXON Missense_H213Y exm2036608 3 126676377 [A/G] NM_032343 CHCHD6 EXON Missense_V229M exm347025 3 126707755 [A/G] NM_032242 PLXNA1 EXON Missense_G107S exm347027 3 126707765 [A/G] NM_032242 PLXNA1 EXON Missense_S110N exm347035 3 126707978 [A/G] NM_032242 PLXNA1 EXON Missense_G181D exm347043 3 126708076 [A/G] NM_032242 PLXNA1 EXON Missense_D214N exm2255669 3 126708459 [T/C] NM_032242 PLXNA1 EXON Synonymous_F341F exm347068 3 126708481 [G/C] NM_032242 PLXNA1 EXON Missense_V349L exm2275696 3 126723761 [C/G] NM_032242 PLXNA1 EXON Missense_D551E exm347103 3 126723975 [A/G] NM_032242 PLXNA1 EXON Missense_V596I exm347108 3 126724014 [A/G] NM_032242 PLXNA1 EXON Missense_V609I exm347120 3 126726712 [A/G] NM_032242 PLXNA1 EXON Missense_V690M exm347131 3 126730930 [A/G] NM_032242 PLXNA1 EXON Missense_I748V exm2255670 3 126733176 [A/G] NM_032242 PLXNA1 EXON Synonymous_A854A exm347170 3 126733406 [A/G] NM_032242 PLXNA1 EXON Missense_R897H exm347222 3 126737138 [T/G] NM_032242 PLXNA1 EXON Missense_V1221G exm2264006 3 126737268 [A/C] NM_032242 PLXNA1 EXON Synonymous_L1264L exm347292 3 126747860 [A/G] NM_032242 PLXNA1 EXON Missense_R1565H exm347329 3 126751579 [A/G] NM_032242 PLXNA1 EXON Missense_S1832N exm347339 3 126752799 [A/G] NM_032242 PLXNA1 EXON Missense_R1877Q exm-rs9871760 3 126993099 [A/C] exm-rs12185961 3 127080468 [A/G] exm2269665 3 127094785 [T/C] exm2255672 3 127183098 [A/G] exm347386 3 127292494 [A/G] NM_001142646,NR_073377,NM_001136053 TPRA1,TPRA1,TPRA1 EXON Synonymous_C276C,Silent,Missense_A331V exm347387 3 127292517 [T/C] NM_001142646,NR_073377,NM_001136053 TPRA1,TPRA1,TPRA1 EXON Missense_R269G,Silent,Synonymous_A323A exm347389 3 127292537 [A/G] NM_001142646,NR_073377,NM_001136053 TPRA1,TPRA1,TPRA1 EXON Missense_A262V,Silent,Missense_R317W exm347392 3 127292589 [A/G] NM_001142646,NR_073377,NM_001136053 TPRA1,TPRA1,TPRA1 EXON Nonsense_R245X,Silent,Synonymous_D299D exm347397 3 127294041 [A/G] NM_001142646,NR_073377,NM_001136053 TPRA1,TPRA1,TPRA1 EXON Missense_P226L,Silent,Missense_R281W exm347404 3 127294805 [A/G] NM_001142646,NR_073377,NM_001136053 TPRA1,TPRA1,TPRA1 EXON Missense_V196A,Silent,Missense_V196A exm347406 3 127294853 [A/G] NM_001142646,NR_073377,NM_001136053 TPRA1,TPRA1,TPRA1 EXON Missense_A180V,Silent,Missense_A180V exm2036703 3 127295510 [A/G] NM_001142646,NR_073377,NM_001136053 TPRA1,TPRA1,TPRA1 EXON Missense_R150W,Silent,Missense_R150W exm347422 3 127298598 [G/C] NM_001142646,NR_073377,NM_001136053 TPRA1,TPRA1,TPRA1 EXON Missense_I81M,Silent,Missense_I81M exm347426 3 127298641 [A/G] NM_001142646,NR_073377,NM_001136053 TPRA1,TPRA1,TPRA1 EXON Missense_S67F,Silent,Missense_S67F exm347431 3 127298714 [T/C] NM_001142646,NR_073377,NM_001136053 TPRA1,TPRA1,TPRA1 EXON Missense_V43I,Silent,Missense_V43I exm347437 3 127298917 [T/C] NM_001142646,NR_073377,NM_001136053 TPRA1,TPRA1,TPRA1 EXON Missense_S25G,Silent,Missense_S25G exm347438 3 127298941 [A/G] NM_001142646,NR_073377,NM_001136053 TPRA1,TPRA1,TPRA1 EXON Missense_P17S,Silent,Missense_P17S exm347447 3 127318207 [C/G] NR_073375,NM_004526 MCM2,MCM2 EXON Silent,Missense_R18P exm2036721 3 127318252 [A/G] NR_073375,NM_004526 MCM2,MCM2 EXON Silent,Missense_R33Q exm347455 3 127318358 [T/G] NR_073375,NM_004526 MCM2,MCM2 EXON Silent,Missense_D68E exm2238537 3 127318367 [A/G] NR_073375,NM_004526 MCM2,MCM2 EXON Silent,Synonymous_E71E exm347458 3 127323492 [A/C] NR_073375,NM_004526 MCM2,MCM2 EXON Silent,Missense_E93A exm347460 3 127323567 [A/G] NR_073375,NM_004526 MCM2,MCM2 EXON Silent,Missense_R118Q exm347464 3 127323612 [A/G] NR_073375,NM_004526 MCM2,MCM2 EXON Silent,Missense_R133H exm347465 3 127323749 [C/G] NR_073375,NM_004526 MCM2,MCM2 EXON Silent,Missense_E141D exm347468 3 127323772 [A/G] NR_073375,NM_004526 MCM2,MCM2 EXON Silent,Missense_R149H exm347471 3 127323822 [T/G] NR_073375,NM_004526 MCM2,MCM2 EXON Silent,Nonsense_E166X exm347474 3 127323900 [T/C] NR_073375,NM_004526 MCM2,MCM2 EXON Silent,Missense_R192W exm347496 3 127325493 [G/C] NR_073375,NM_004526 MCM2,MCM2 EXON Silent,Missense_V312L exm347508 3 127327309 [A/G] NR_073375,NM_004526 MCM2,MCM2 EXON Silent,Missense_A396T exm2255673 3 127327320 [T/C] NR_073375,NM_004526 MCM2,MCM2 EXON Silent,Synonymous_L399L exm347509 3 127327320 [T/C] NR_073375,NM_004526 MCM2,MCM2 EXON Silent,Synonymous_L399L exm2238538 3 127327750 [A/G] NR_073375,NM_004526 MCM2,MCM2 EXON Silent,Missense_V438I exm347519 3 127334730 [T/C] NR_073375,NM_004526 MCM2,MCM2 EXON Silent,Missense_I485T exm347521 3 127334777 [A/G] NR_073375,NM_004526 MCM2,MCM2 EXON Silent,Missense_G501R exm347522 3 127334786 [A/C] NR_073375,NM_004526 MCM2,MCM2 EXON Silent,Missense_P504T exm2275697 3 127335873 [A/G] NR_073375,NM_004526 MCM2,MCM2 EXON Silent,Missense_R562Q exm2036749 3 127336236 [A/G] NR_073375,NM_004526 MCM2,MCM2 EXON Silent,Missense_A630T exm347539 3 127336910 [A/G] NR_073375,NM_004526 MCM2,MCM2 EXON Silent,Missense_V667M exm347542 3 127337927 [A/G] NR_073375,NM_004526 MCM2,MCM2 EXON Silent,Missense_K691E exm347547 3 127338035 [A/G] NR_073375,NM_004526 MCM2,MCM2 EXON Silent,Missense_A727T exm2036758 3 127339654 [A/G] NR_073375,NM_004526 MCM2,MCM2 EXON Silent,Missense_M793I exm347558 3 127339703 [A/G] NR_073375,NM_004526 MCM2,MCM2 EXON Silent,Missense_V810I exm347559 3 127339706 [A/G] NR_073375,NM_004526 MCM2,MCM2 EXON Silent,Missense_M811V exm2036759 3 127339710 [A/G] NR_073375,NM_004526 MCM2,MCM2 EXON Silent,Missense_R812H exm347564 3 127339925 [T/C] NR_073375,NM_004526 MCM2,MCM2 EXON Silent,Missense_R820C exm347571 3 127340037 [T/C] NR_073375,NM_004526 MCM2,MCM2 EXON Silent,Missense_T857I exm347598 3 127379313 [A/G] NM_015720 PODXL2 EXON Missense_K148E exm347604 3 127379452 [A/G] NM_015720 PODXL2 EXON Missense_G194E exm347605 3 127379473 [G/C] NM_015720 PODXL2 EXON Missense_P201R exm347606 3 127379476 [A/G] NM_015720 PODXL2 EXON Missense_Q202R exm347610 3 127379547 [A/G] NM_015720 PODXL2 EXON Missense_G226R exm347616 3 127379635 [T/C] NM_015720 PODXL2 EXON Missense_P255L exm347619 3 127379694 [T/C] NM_015720 PODXL2 EXON Missense_L275F exm347623 3 127379730 [A/G] NM_015720 PODXL2 EXON Missense_E287K exm347631 3 127379826 [A/G] NM_015720 PODXL2 EXON Missense_E319K exm2255674 3 127379909 [T/C] NM_015720 PODXL2 EXON Synonymous_S346S exm347654 3 127387987 [T/C] NM_015720 PODXL2 EXON Missense_V456A exm347655 3 127387989 [A/G] NM_015720 PODXL2 EXON Missense_V457M exm347659 3 127390346 [C/G] NM_015720 PODXL2 EXON Missense_G499R exm347675 3 127393271 [T/C] NM_032548,NM_172027,NR_033429 ABTB1,ABTB1,ABTB1 EXON Silent,Missense_R32W,Silent exm347676 3 127393272 [A/G] NM_032548,NM_172027,NR_033429 ABTB1,ABTB1,ABTB1 EXON Silent,Missense_R32Q,Silent exm347691 3 127394885 [A/G] NM_032548,NM_172027,NR_033429 ABTB1,ABTB1,ABTB1 EXON Silent,Missense_R83Q,Silent exm347702 3 127395188 [A/G] NM_032548,NM_172027,NR_033429 ABTB1,ABTB1,ABTB1 EXON Silent,Missense_V132I,Silent exm347715 3 127395847 [A/T] NM_032548,NM_172027,NR_033429 ABTB1,ABTB1,ABTB1 EXON Nonsense_C46X,Nonsense_C188X,Silent exm347729 3 127396073 [T/C] NM_032548,NM_172027,NR_033429 ABTB1,ABTB1,ABTB1 EXON Missense_R94C,Missense_R236C,Silent exm347743 3 127396573 [T/C] NM_032548,NM_172027,NR_033429 ABTB1,ABTB1,ABTB1 EXON Nonsense_R164X,Nonsense_R306X,Silent exm347746 3 127396588 [T/C] NM_032548,NM_172027,NR_033429 ABTB1,ABTB1,ABTB1 EXON Missense_P169S,Missense_P311S,Silent exm347766 3 127398955 [A/G] NM_032548,NM_172027,NR_033429 ABTB1,ABTB1,ABTB1 EXON Missense_R244H,Missense_R386H,Silent exm2036819 3 127399014 [A/G] NM_032548,NM_172027,NR_033429 ABTB1,ABTB1,ABTB1 EXON Missense_K264E,Missense_K406E,Silent exm347779 3 127399269 [A/G] NM_032548,NM_172027,NR_033429 ABTB1,ABTB1,ABTB1 EXON Missense_R321H,Missense_R463H,Silent exm2273377 3 127410959 [T/G] NM_001003794,NM_001256585,NM_007283 MGLL,MGLL,MGLL EXON Silent,Silent,Silent exm347794 3 127411064 [T/C] NM_001003794,NM_001256585,NM_007283 MGLL,MGLL,MGLL EXON Missense_A297T,Missense_A277T,Missense_A307T exm347796 3 127411093 [T/A] NM_001003794,NM_001256585,NM_007283 MGLL,MGLL,MGLL EXON Missense_N287I,Missense_N267I,Missense_N297I exm347807 3 127413976 [T/C] NM_001003794,NM_001256585,NM_007283 MGLL,MGLL,MGLL EXON Missense_G210S,Missense_G190S,Missense_G220S exm347817 3 127439979 [T/C] NM_001003794,NM_001256585,NM_007283 MGLL,MGLL,MGLL EXON Missense_A133T,Missense_A143T,Missense_A143T exm347818 3 127439994 [T/C] NM_001003794,NM_001256585,NM_007283 MGLL,MGLL,MGLL EXON Missense_A128T,Missense_A138T,Missense_A138T exm347821 3 127441353 [T/C] NM_001003794,NM_001256585,NM_007283 MGLL,MGLL,MGLL EXON Missense_V97I,Missense_V107I,Missense_V107I exm2036835 3 127441392 [T/C] NM_001003794,NM_001256585,NM_007283 MGLL,MGLL,MGLL EXON Missense_E84K,Missense_E94K,Missense_E94K exm2036838 3 127500677 [A/G] NM_001003794,NM_001256585,NM_007283 MGLL,MGLL,MGLL EXON Missense_R63W,Missense_R73W,Missense_R73W exm2036842 3 127540550 [T/C] NM_001003794,NM_001256585,NM_007283 MGLL,MGLL,MGLL EXON Missense_T38A,Missense_T48A,Missense_T48A exm347842 3 127540645 [A/G] NM_001003794,NM_001256585,NM_007283 MGLL,MGLL,MGLL EXON Missense_S6F,Missense_S16F,Missense_S16F exm347846 3 127641968 [A/C] NM_207335 KBTBD12 EXON Missense_Q22K exm347853 3 127642152 [T/C] NM_207335 KBTBD12 EXON Missense_S83L exm347856 3 127642198 [A/T] NM_207335 KBTBD12 EXON Missense_N98K exm347865 3 127642561 [A/C] NM_207335 KBTBD12 EXON Missense_Q219H exm2036850 3 127642806 [A/T] NM_207335 KBTBD12 EXON Missense_Y301F exm347870 3 127642814 [G/C] NM_207335 KBTBD12 EXON Missense_V304L exm347874 3 127646773 [T/C] NM_207335 KBTBD12 EXON Missense_R413W exm347877 3 127646863 [C/G] NM_207335 KBTBD12 EXON Missense_G443R exm347881 3 127649010 [A/G] NM_207335 KBTBD12 EXON Missense_S459N exm347884 3 127682033 [T/C] NM_207335 KBTBD12 EXON Synonymous_G498G exm347887 3 127682121 [T/C] NM_207335 KBTBD12 EXON Nonsense_R528X exm347889 3 127682160 [T/C] NM_207335 KBTBD12 EXON Missense_R541C exm347897 3 127703031 [A/C] NM_207335 KBTBD12 EXON Missense_D594E exm2036859 3 127703051 [T/C] NM_207335 KBTBD12 EXON Missense_V601A exm347999 3 127872469 [A/C] NM_021937 EEFSEC EXON Missense_P40Q exm-rs2687729 3 127895226 [A/G] NM_021937 EEFSEC Silent exm348012 3 127965732 [T/C] NM_021937 EEFSEC EXON Nonsense_Q124X exm348021 3 127981001 [A/G] NM_021937 EEFSEC EXON Synonymous_A185A exm2255677 3 127981001 [A/G] NM_021937 EEFSEC EXON Synonymous_A185A exm348026 3 127983506 [T/C] NM_021937 EEFSEC EXON Missense_P223L exm-rs10934853 3 128038373 [A/C] NM_021937 EEFSEC Silent exm348032 3 128060143 [A/G] NM_021937 EEFSEC EXON Missense_R285Q exm348035 3 128060208 [A/G] NM_021937 EEFSEC EXON Missense_E307K exm348038 3 128060328 [T/C] NM_021937 EEFSEC EXON Missense_R347W exm348039 3 128060329 [A/G] NM_021937 EEFSEC EXON Missense_R347Q exm348043 3 128060445 [T/C] NM_021937 EEFSEC EXON Missense_P386S exm348046 3 128060547 [A/G] NM_021937 EEFSEC EXON Missense_V420I exm348049 3 128060593 [T/C] NM_021937 EEFSEC EXON Missense_A435V exm348053 3 128060678 [C/G] NM_021937 EEFSEC EXON Missense_F463L exm348071 3 128126926 [A/G] NM_021937 EEFSEC EXON Missense_E539K exm348079 3 128126974 [T/G] NM_021937 EEFSEC EXON Missense_G555C exm348083 3 128127053 [T/G] NM_021937 EEFSEC EXON Missense_F581C exm2269666 3 128127805 [T/C] exm348102 3 128181491 [T/C] NM_153330 DNAJB8 EXON Missense_V200M exm2238552 3 128181547 [A/G] NM_153330 DNAJB8 EXON Missense_S181L exm348111 3 128181581 [G/C] NM_153330 DNAJB8 EXON Missense_G170R exm348118 3 128181632 [T/G] NM_153330 DNAJB8 EXON Missense_M153L exm348121 3 128181692 [T/C] NM_153330 DNAJB8 EXON Missense_A133T exm2036972 3 128181726 [T/A] NM_153330 DNAJB8 EXON Missense_S121R exm348123 3 128181744 [T/C] NM_153330 DNAJB8 EXON Nonsense_W115X exm348125 3 128181776 [T/C] NM_153330 DNAJB8 EXON Missense_G105S exm348127 3 128181787 [T/C] NM_153330 DNAJB8 EXON Missense_R101Q exm348130 3 128181827 [T/C] NM_153330 DNAJB8 EXON Missense_D88N exm348135 3 128181905 [A/G] NM_153330 DNAJB8 EXON Missense_R62C exm2036978 3 128181970 [T/C] NM_153330 DNAJB8 EXON Missense_E40G exm348151 3 128199918 [A/G] NM_001145661,NM_001145662,NM_032638 GATA2,GATA2,GATA2 EXON Missense_S463P,Missense_S449P,Missense_S463P exm348153 3 128199935 [A/G] NM_001145661,NM_001145662,NM_032638 GATA2,GATA2,GATA2 EXON Missense_T457M,Missense_T443M,Missense_T457M exm348176 3 128204612 [T/C] NM_001145661,NM_001145662,NM_032638 GATA2,GATA2,GATA2 EXON Missense_S277G,Missense_S277G,Missense_S277G exm348177 3 128204693 [G/C] NM_001145661,NM_001145662,NM_032638 GATA2,GATA2,GATA2 EXON Missense_P250A,Missense_P250A,Missense_P250A exm348178 3 128204731 [T/C] NM_001145661,NM_001145662,NM_032638 GATA2,GATA2,GATA2 EXON Missense_G237D,Missense_G237D,Missense_G237D exm2273964 3 128204772 [T/C] NM_001145661,NM_001145662,NM_032638 GATA2,GATA2,GATA2 EXON Missense_M223I,Missense_M223I,Missense_M223I exm348217 3 128205754 [C/G] NM_001145661,NM_001145662,NM_032638 GATA2,GATA2,GATA2 EXON Missense_P41A,Missense_P41A,Missense_P41A exm-rs4857855 3 128260550 [T/C] exm348231 3 128292301 [T/C] NM_007354 C3orf27 EXON Missense_G91E exm348233 3 128292334 [C/G] NM_007354 C3orf27 EXON Missense_R80T exm348246 3 128292517 [A/G] NM_007354 C3orf27 EXON Missense_T19M exm348247 3 128292541 [T/C] NM_007354 C3orf27 EXON Missense_R11H exm-rs4328821 3 128316435 [A/G] exm348260 3 128341146 [T/C] NM_002950 RPN1 EXON Missense_N501S exm348266 3 128344378 [T/C] NM_002950 RPN1 EXON Missense_K465R exm348271 3 128344415 [T/C] NM_002950 RPN1 EXON Missense_V453I exm348278 3 128344820 [T/C] NM_002950 RPN1 EXON Missense_R391H exm348289 3 128350877 [T/G] NM_002950 RPN1 EXON Missense_T253P exm348292 3 128350922 [A/G] NM_002950 RPN1 EXON Missense_H238Y exm348296 3 128356661 [T/G] NM_002950 RPN1 EXON Missense_D205A exm348297 3 128356666 [G/C] NM_002950 RPN1 EXON Missense_F203L exm348303 3 128356736 [T/C] NM_002950 RPN1 EXON Missense_R180Q exm348307 3 128356845 [T/C] NM_002950 RPN1 EXON Missense_T144A exm348333 3 128369597 [C/G] NM_002950 RPN1 EXON Missense_T16S exm2255680 3 128430941 [T/C] exm348356 3 128532174 [T/C] NM_004637 RAB7A EXON Missense_T178M exm348367 3 128603497 [A/T] NM_014049,NR_033426 ACAD9,ACAD9 EXON Missense_K51I,Silent exm348378 3 128614248 [A/G] NM_014049,NR_033426 ACAD9,ACAD9 EXON Missense_I148V,Silent exm348382 3 128615304 [A/C] NM_014049,NR_033426 ACAD9,ACAD9 EXON Missense_E160A,Silent exm348399 3 128618303 [T/C] NM_014049,NR_033426 ACAD9,ACAD9 EXON Synonymous_N269N,Silent exm348407 3 128621441 [A/G] NM_014049,NR_033426 ACAD9,ACAD9 EXON Missense_V310I,Silent exm348409 3 128622922 [A/G] NM_014049,NR_033426 ACAD9,ACAD9 EXON Missense_A326T,Silent exm348410 3 128622934 [A/C] NM_014049,NR_033426 ACAD9,ACAD9 EXON Missense_K330Q,Silent exm348412 3 128622968 [T/C] NM_014049,NR_033426 ACAD9,ACAD9 EXON Missense_L341S,Silent exm2238560 3 128625004 [T/C] NM_014049,NR_033426 ACAD9,ACAD9 EXON Missense_A397V,Silent exm348423 3 128627862 [T/C] NM_014049,NR_033426 ACAD9,ACAD9 EXON Missense_R469W,Silent exm348427 3 128627887 [A/G] NM_014049,NR_033426 ACAD9,ACAD9 EXON Missense_R477Q,Silent exm348432 3 128627942 [A/G] NM_014049,NR_033426 ACAD9,ACAD9 EXON Synonymous_A495A,Silent exm348434 3 128628226 [A/G] NM_014049,NR_033426 ACAD9,ACAD9 EXON Missense_G509S,Silent exm348438 3 128628253 [T/C] NM_014049,NR_033426 ACAD9,ACAD9 EXON Missense_R518C,Silent exm2037120 3 128628975 [A/C] NM_014049,NR_033426 ACAD9,ACAD9 EXON Missense_R559S,Silent exm348460 3 128631385 [A/G] NM_014049,NR_033426 ACAD9,ACAD9 EXON Missense_V601M,Silent exm2269523 3 128677188 [T/C] exm348474 3 128690076 [A/G] NM_020741 KIAA1257 EXON Missense_R408W exm348482 3 128694629 [C/G] NM_020741 KIAA1257 EXON Missense_R338S exm348485 3 128695828 [A/G] NM_020741 KIAA1257 EXON Missense_T297M exm348487 3 128695837 [T/C] NM_020741 KIAA1257 EXON Missense_D294G exm348492 3 128696903 [A/G] NM_020741 KIAA1257 EXON Missense_P265S exm348494 3 128696935 [A/G] NM_020741 KIAA1257 EXON Missense_P254L exm348507 3 128707600 [A/C] NM_020741 KIAA1257 EXON Missense_A142S exm348511 3 128707715 [G/C] NM_020741 KIAA1257 EXON Missense_H103Q exm348515 3 128711946 [A/C] NM_020741 KIAA1257 EXON Missense_D68Y exm348517 3 128711985 [T/C] NM_020741 KIAA1257 EXON Missense_I55V exm348536 3 128722685 [A/G] NM_024768 EFCC1 EXON Missense_G249R exm348539 3 128749572 [T/C] NM_024768 EFCC1 EXON Missense_P336L exm348554 3 128753102 [T/C] NM_024768 EFCC1 EXON Missense_I460T exm348558 3 128753140 [A/G] NM_024768 EFCC1 EXON Missense_G473S exm348561 3 128755896 [A/G] NM_024768 EFCC1 EXON Missense_R509Q exm348563 3 128755944 [A/G] NM_024768 EFCC1 EXON Missense_Q525R exm348565 3 128755953 [A/G] NM_024768 EFCC1 EXON Missense_R528Q exm348580 3 128780662 [A/G] NM_000174 GP9 EXON Missense_R27H exm348591 3 128780818 [T/C] NM_000174 GP9 EXON Missense_T79I exm348592 3 128780823 [A/G] NM_000174 GP9 EXON Missense_D81N exm348596 3 128780872 [A/G] NM_000174 GP9 EXON Missense_R97H exm348611 3 128810169 [T/C] NM_001204883,NM_001204884,NM_198490,NM_001204890,NM_001204888,NM_001204885,NM_001204887,NM_001204886 RAB43,RAB43,RAB43,ISY1-RAB43,RAB43,RAB43,RAB43,RAB43 EXON Missense_E137K,Missense_E137K,Missense_E137K,Silent,Silent,Missense_E137K,Silent,Missense_E137K exm348667 3 128890540 [T/C] NM_001127195,NM_001127194,NM_001127193,NM_003418,NM_001127196,NM_001127192 CNBP,CNBP,CNBP,CNBP,CNBP,CNBP EXON Missense_T21A,Missense_T21A,Missense_T21A,Missense_T21A,Missense_T21A,Missense_T21A exm348676 3 128971197 [T/C] NM_016128 COPG1 EXON Missense_I55T exm348686 3 128971732 [A/G] NM_016128 COPG1 EXON Missense_R86Q exm2238571 3 128976425 [T/C] NM_016128 COPG1 EXON Missense_M231T exm348704 3 128976451 [G/C] NM_016128 COPG1 EXON Missense_L240V exm348716 3 128979205 [T/G] NM_016128 COPG1 EXON Missense_A301S exm2238573 3 128979240 [A/T] NM_016128 COPG1 EXON Missense_N312K exm348738 3 128984597 [A/G] NM_016128 COPG1 EXON Missense_Y477C exm348747 3 128987359 [A/G] NM_016128 COPG1 EXON Missense_G557D exm348761 3 128991112 [A/G] NM_016128 COPG1 EXON Missense_D671G exm348817 3 129009622 [A/G] NM_020187,NM_001006109 C3orf37,C3orf37 EXON Missense_Y143C,Missense_Y143C exm348820 3 129017206 [A/C] NM_020187,NM_001006109 C3orf37,C3orf37 EXON Missense_I155L,Missense_I155L exm348823 3 129017256 [A/G] NM_020187,NM_001006109 C3orf37,C3orf37 EXON Nonsense_W171X,Nonsense_W171X exm348841 3 129023630 [A/G] NM_020187,NM_001006109 C3orf37,C3orf37 EXON Missense_E343K,Missense_E343K exm348855 3 129034195 [A/C] NM_006026 H1FX EXON Missense_G184V exm348866 3 129034666 [A/G] NM_006026 H1FX EXON Missense_S27L exm-rs6439167 3 129050756 [T/C] exm348874 3 129120467 [T/C] NM_207307 EFCAB12 EXON Missense_Y563C exm348877 3 129120534 [A/G] NM_207307 EFCAB12 EXON Missense_P541S exm348882 3 129120623 [A/G] NM_207307 EFCAB12 EXON Missense_L511P exm348884 3 129120684 [A/C] NM_207307 EFCAB12 EXON Missense_V491L exm348888 3 129123129 [T/C] NM_207307 EFCAB12 EXON Missense_R456Q exm348893 3 129123190 [A/G] NM_207307 EFCAB12 EXON Missense_R436W exm348897 3 129127574 [T/C] NM_207307 EFCAB12 EXON Missense_R388H exm348907 3 129130018 [A/G] NM_207307 EFCAB12 EXON Missense_R340W exm348917 3 129130087 [T/C] NM_207307 EFCAB12 EXON Missense_D317N exm348923 3 129130197 [T/C] NM_207307 EFCAB12 EXON Missense_H280R exm348929 3 129134207 [A/C] NM_207307 EFCAB12 EXON Missense_I240R exm348930 3 129134241 [T/C] NM_207307 EFCAB12 EXON Missense_G229R exm348938 3 129137135 [T/C] NM_207307 EFCAB12 EXON Missense_R215G exm348940 3 129137188 [T/C] NM_207307 EFCAB12 EXON Missense_R197H exm348943 3 129137245 [T/G] NM_207307 EFCAB12 EXON Missense_Q178P exm348944 3 129137260 [T/C] NM_207307 EFCAB12 EXON Missense_R173H exm2037311 3 129140253 [T/C] NM_207307 EFCAB12 EXON Missense_S148N exm348951 3 129140359 [A/G] NM_207307 EFCAB12 EXON Missense_R113W exm348952 3 129140410 [A/G] NM_207307 EFCAB12 EXON Nonsense_Q96X exm348953 3 129140458 [A/G] NM_207307 EFCAB12 EXON Missense_P80S exm348955 3 129140499 [T/C] NM_207307 EFCAB12 EXON Missense_E66G exm348957 3 129140526 [T/C] NM_207307 EFCAB12 EXON Missense_R57Q exm348962 3 129140589 [A/G] NM_207307 EFCAB12 EXON Missense_P36L exm348967 3 129140634 [C/G] NM_207307 EFCAB12 EXON Missense_S21C exm348976 3 129150385 [G/C] NM_001276273,NM_003925,NM_001276270,NM_001276272 MBD4,MBD4,MBD4,MBD4 EXON Missense_D250H,Missense_D568H,Missense_D562H,Silent exm348977 3 129150399 [A/T] NM_001276273,NM_003925,NM_001276270,NM_001276272 MBD4,MBD4,MBD4,MBD4 EXON Nonsense_L245X,Nonsense_L563X,Nonsense_L557X,Silent exm348982 3 129151417 [T/C] NM_001276273,NM_003925,NM_001276270,NM_001276272,NM_001276271 MBD4,MBD4,MBD4,MBD4,MBD4 EXON Missense_I214V,Missense_I532V,Missense_I526V,Missense_I532V,Missense_I532V exm348994 3 129152089 [A/G] NM_001276273,NM_003925,NM_001276270,NM_001276272,NM_001276271 MBD4,MBD4,MBD4,MBD4,MBD4 EXON Synonymous_G153G,Synonymous_G471G,Synonymous_G465G,Synonymous_G471G,Synonymous_G471G exm349000 3 129152704 [T/C] NM_001276273,NM_003925,NM_001276270,NM_001276272,NM_001276271 MBD4,MBD4,MBD4,MBD4,MBD4 EXON Missense_N149S,Missense_N467S,Missense_N461S,Missense_N467S,Missense_N467S exm2275279 3 129155287 [T/C] NM_001276273,NM_003925,NM_001276270,NM_001276272,NM_001276271 MBD4,MBD4,MBD4,MBD4,MBD4 EXON Silent,Synonymous_Q400Q,Silent,Synonymous_Q400Q,Synonymous_Q400Q exm349008 3 129155325 [A/G] NM_001276273,NM_003925,NM_001276270,NM_001276272,NM_001276271 MBD4,MBD4,MBD4,MBD4,MBD4 EXON Silent,Missense_P388S,Missense_P388S,Missense_P388S,Missense_P388S exm2037322 3 129155327 [A/G] NM_001276273,NM_003925,NM_001276270,NM_001276272,NM_001276271 MBD4,MBD4,MBD4,MBD4,MBD4 EXON Silent,Missense_S387L,Missense_S387L,Missense_S387L,Missense_S387L exm349012 3 129155414 [A/G] NM_001276273,NM_003925,NM_001276270,NM_001276272,NM_001276271 MBD4,MBD4,MBD4,MBD4,MBD4 EXON Silent,Missense_I358T,Missense_I358T,Missense_I358T,Missense_I358T exm349014 3 129155451 [T/C] NM_001276273,NM_003925,NM_001276270,NM_001276272,NM_001276271 MBD4,MBD4,MBD4,MBD4,MBD4 EXON Silent,Missense_E346K,Missense_E346K,Missense_E346K,Missense_E346K exm349023 3 129155670 [T/C] NM_001276273,NM_003925,NM_001276270,NM_001276272,NM_001276271 MBD4,MBD4,MBD4,MBD4,MBD4 EXON Silent,Missense_A273T,Missense_A273T,Missense_A273T,Missense_A273T exm349026 3 129155805 [C/G] NM_001276273,NM_003925,NM_001276270,NM_001276272,NM_001276271 MBD4,MBD4,MBD4,MBD4,MBD4 EXON Silent,Missense_V228L,Missense_V228L,Missense_V228L,Missense_V228L exm349030 3 129155915 [A/G] NM_001276273,NM_003925,NM_001276270,NM_001276272,NM_001276271 MBD4,MBD4,MBD4,MBD4,MBD4 EXON Silent,Missense_P191L,Missense_P191L,Missense_P191L,Missense_P191L exm349035 3 129156084 [A/C] NM_001276273,NM_003925,NM_001276270,NM_001276272,NM_001276271 MBD4,MBD4,MBD4,MBD4,MBD4 EXON Silent,Missense_S135A,Missense_S135A,Missense_S135A,Missense_S135A exm349038 3 129156151 [A/G] NM_001276273,NM_003925,NM_001276270,NM_001276272,NM_001276271 MBD4,MBD4,MBD4,MBD4,MBD4 EXON Silent,Synonymous_S112S,Synonymous_S112S,Synonymous_S112S,Synonymous_S112S exm349046 3 129156717 [A/G] NM_001276273,NM_003925,NM_001276270,NM_001276272,NM_001276271 MBD4,MBD4,MBD4,MBD4,MBD4 EXON Missense_C61R,Missense_C61R,Missense_C61R,Missense_C61R,Missense_C61R exm349052 3 129158655 [T/C] NM_001276273,NM_003925,NM_001276270,NM_001276272,NM_001276271 MBD4,MBD4,MBD4,MBD4,MBD4 EXON Missense_S8G,Missense_S8G,Missense_S8G,Missense_S8G,Missense_S8G exm349071 3 129177462 [T/G] NM_052990,NM_052989,NM_018262,NM_052985 IFT122,IFT122,IFT122,IFT122 EXON Silent,Missense_S72A,Missense_S72A,Missense_S72A exm349076 3 129179740 [A/C] NM_052990,NM_052989,NM_018262,NM_052985 IFT122,IFT122,IFT122,IFT122 EXON Silent,Silent,Silent,Missense_L106M exm349084 3 129180146 [T/C] NM_052990,NM_052989,NM_018262,NM_052985 IFT122,IFT122,IFT122,IFT122 EXON Silent,Synonymous_F116F,Synonymous_F116F,Synonymous_F167F exm349087 3 129183519 [A/G] NM_052990,NM_052989,NM_018262,NM_052985 IFT122,IFT122,IFT122,IFT122 EXON Missense_N101S,Missense_N153S,Missense_N153S,Missense_N204S exm349095 3 129185734 [T/C] NM_052990,NM_052989,NM_018262,NM_052985 IFT122,IFT122,IFT122,IFT122 EXON Silent,Nonsense_R189X,Silent,Nonsense_R240X exm349096 3 129185786 [T/C] NM_052990,NM_052989,NM_018262,NM_052985 IFT122,IFT122,IFT122,IFT122 EXON Silent,Missense_I206T,Silent,Missense_I257T exm349108 3 129195166 [T/G] NM_052990,NM_052989,NM_018262,NM_052985 IFT122,IFT122,IFT122,IFT122 EXON Missense_K164N,Missense_K275N,Missense_K216N,Missense_K326N exm349110 3 129195170 [T/C] NM_052990,NM_052989,NM_018262,NM_052985 IFT122,IFT122,IFT122,IFT122 EXON Missense_R166W,Missense_R277W,Missense_R218W,Missense_R328W exm349118 3 129195327 [T/C] NM_052990,NM_052989,NM_018262,NM_052985 IFT122,IFT122,IFT122,IFT122 EXON Missense_A218V,Missense_A329V,Missense_A270V,Missense_A380V exm349124 3 129195600 [A/G] NM_052990,NM_052989,NM_018262,NM_052985 IFT122,IFT122,IFT122,IFT122 EXON Missense_S257N,Missense_S368N,Missense_S309N,Missense_S419N exm349131 3 129196963 [A/G] NM_052990,NM_052989,NM_018262,NM_052985 IFT122,IFT122,IFT122,IFT122 EXON Missense_D307N,Missense_D418N,Missense_D359N,Missense_D469N exm349132 3 129196984 [T/C] NM_052990,NM_052989,NM_018262,NM_052985 IFT122,IFT122,IFT122,IFT122 EXON Missense_R314W,Missense_R425W,Missense_R366W,Missense_R476W exm349135 3 129197021 [A/G] NM_052990,NM_052989,NM_018262,NM_052985 IFT122,IFT122,IFT122,IFT122 EXON Missense_N326S,Missense_N437S,Missense_N378S,Missense_N488S exm349185 3 129211009 [A/G] NM_052990,NM_052989,NM_018262,NM_052985 IFT122,IFT122,IFT122,IFT122 EXON Missense_R562Q,Missense_R673Q,Missense_R614Q,Missense_R724Q exm349205 3 129218830 [A/C] NM_052990,NM_052989,NM_018262,NM_052985 IFT122,IFT122,IFT122,IFT122 EXON Missense_K654T,Missense_K765T,Missense_K706T,Missense_K816T exm349240 3 129225350 [T/G] NM_052990,NM_052989,NM_018262,NM_052985 IFT122,IFT122,IFT122,IFT122 EXON Missense_Y806D,Missense_Y917D,Missense_Y858D,Missense_Y968D exm349244 3 129231176 [T/C] NM_052990,NM_052989,NM_018262,NM_052985 IFT122,IFT122,IFT122,IFT122 EXON Missense_R860C,Missense_R970C,Missense_R911C,Missense_R1021C exm349256 3 129233315 [A/G] NM_052990,NM_052989,NM_018262,NM_052985 IFT122,IFT122,IFT122,IFT122 EXON Missense_G914D,Missense_G1024D,Missense_G965D,Missense_G1075D exm349262 3 129233375 [T/C] NM_052990,NM_052989,NM_018262,NM_052985 IFT122,IFT122,IFT122,IFT122 EXON Missense_A934V,Missense_A1044V,Missense_A985V,Missense_A1095V exm349288 3 129238426 [T/A] NM_052990,NM_052989,NM_018262,NM_052985 IFT122,IFT122,IFT122,IFT122 EXON Missense_F1053I,Missense_F1163I,Missense_F1104I,Missense_F1214I exm349290 3 129238429 [A/G] NM_052990,NM_052989,NM_018262,NM_052985 IFT122,IFT122,IFT122,IFT122 EXON Missense_V1054M,Missense_V1164M,Missense_V1105M,Missense_V1215M exm349293 3 129238459 [T/C] NM_052990,NM_052989,NM_018262,NM_052985 IFT122,IFT122,IFT122,IFT122 EXON Missense_R1064C,Missense_R1174C,Missense_R1115C,Missense_R1225C exm349304 3 129239020 [T/C] NM_052990,NM_052989,NM_018262,NM_052985 IFT122,IFT122,IFT122,IFT122 EXON Missense_M1103T,Missense_M1213T,Missense_M1154T,Missense_M1264T exm349307 3 129239080 [A/G] NM_052990,NM_052989,NM_018262,NM_052985 IFT122,IFT122,IFT122,IFT122 EXON Missense_R1123H,Missense_R1233H,Missense_R1174H,Missense_R1284H exm2269667 3 129246414 [T/C] exm349320 3 129247728 [G/C] NM_000539 RHO EXON Missense_G51A exm349321 3 129247749 [T/C] NM_000539 RHO EXON Missense_T58M exm349325 3 129247779 [T/G] NM_000539 RHO EXON Missense_L68R exm349326 3 129247785 [T/C] NM_000539 RHO EXON Missense_T70M exm349332 3 129247875 [A/G] NM_000539 RHO EXON Missense_H100R exm349334 3 129247886 [A/G] NM_000539 RHO EXON Missense_V104I exm349338 3 129247936 [T/C] NM_000539 RHO EXON Synonymous_G120G exm349349 3 129249874 [A/G] NM_000539 RHO EXON Missense_A173T exm2037416 3 129251490 [A/G] NM_000539 RHO EXON Missense_V271M exm349397 3 129262077 [A/G] NM_153833 H1FOO EXON Missense_V6I exm349420 3 129267910 [A/G] NM_153833 H1FOO EXON Missense_A149T exm349429 3 129268073 [T/C] NM_153833 H1FOO EXON Missense_A203V exm349438 3 129268139 [T/C] NM_153833 H1FOO EXON Missense_M225T exm349451 3 129270029 [A/G] NM_153833 H1FOO EXON Missense_N296S exm349462 3 129275166 [T/C] NM_015103 PLXND1 EXON Missense_S1923G exm2255683 3 129275475 [T/C] NM_015103 PLXND1 EXON Synonymous_K1882K exm349481 3 129275975 [A/G] NM_015103 PLXND1 EXON Missense_T1846M exm349497 3 129279235 [A/G] NM_015103 PLXND1 EXON Missense_R1691W exm349499 3 129279255 [A/G] NM_015103 PLXND1 EXON Missense_A1684V exm349501 3 129279274 [T/G] NM_015103 PLXND1 EXON Missense_L1678M exm349509 3 129280528 [T/C] NM_015103 PLXND1 EXON Missense_M1652V exm2037469 3 129281639 [T/C] NM_015103 PLXND1 EXON Missense_V1606I exm349527 3 129281980 [T/C] NM_015103 PLXND1 EXON Missense_S1542N exm349548 3 129284818 [A/C] NM_015103 PLXND1 EXON Missense_L1412V exm349576 3 129289655 [T/C] NM_015103 PLXND1 EXON Missense_A1242T exm349581 3 129289738 [T/C] NM_015103 PLXND1 EXON Missense_R1214Q exm349586 3 129289978 [A/G] NM_015103 PLXND1 EXON Missense_R1169C exm349587 3 129289992 [T/C] NM_015103 PLXND1 EXON Missense_R1164Q exm349591 3 129290035 [A/C] NM_015103 PLXND1 EXON Missense_V1150L exm349598 3 129290353 [A/G] NM_015103 PLXND1 EXON Missense_T1112M exm349601 3 129290378 [T/C] NM_015103 PLXND1 EXON Missense_V1104I exm349608 3 129290532 [T/C] NM_015103 PLXND1 EXON Missense_R1078H exm349613 3 129290568 [A/G] NM_015103 PLXND1 EXON Missense_M1066T exm2037499 3 129290590 [T/C] NM_015103 PLXND1 EXON Missense_G1059S exm349621 3 129290640 [A/G] NM_015103 PLXND1 EXON Missense_P1042L exm349627 3 129291498 [T/C] NM_015103 PLXND1 EXON Missense_E1011K exm349637 3 129291704 [T/C] NM_015103 PLXND1 EXON Missense_R973Q exm349638 3 129291715 [A/C] NM_015103 PLXND1 EXON Missense_E969D exm2269524 3 129291751 [T/C] NM_015103 PLXND1 EXON Synonymous_P957P exm349644 3 129291758 [A/G] NM_015103 PLXND1 EXON Missense_P955L exm349653 3 129292495 [A/C] NM_015103 PLXND1 EXON Missense_V927L exm349656 3 129292539 [T/C] NM_015103 PLXND1 EXON Missense_R912Q exm349669 3 129293256 [T/C] NM_015103 PLXND1 EXON Missense_M870V exm349670 3 129293316 [T/C] NM_015103 PLXND1 EXON Missense_A850T exm349679 3 129294392 [T/C] NM_015103 PLXND1 EXON Missense_R817Q exm349680 3 129294393 [A/G] NM_015103 PLXND1 EXON Missense_R817W exm349689 3 129297243 [A/G] NM_015103 PLXND1 EXON Missense_P759S exm349693 3 129302411 [A/G] NM_015103 PLXND1 EXON Missense_T747M exm349698 3 129302489 [T/C] NM_015103 PLXND1 EXON Missense_Q721R exm349707 3 129303236 [C/G] NM_015103 PLXND1 EXON Missense_P674R exm349711 3 129303315 [A/G] NM_015103 PLXND1 EXON Missense_R648W exm349712 3 129303326 [T/C] NM_015103 PLXND1 EXON Missense_R644H exm349713 3 129303386 [A/G] NM_015103 PLXND1 EXON Missense_S624L exm349715 3 129304797 [A/G] NM_015103 PLXND1 EXON Missense_P617S exm349719 3 129304853 [G/C] NM_015103 PLXND1 EXON Missense_S598T exm349730 3 129305459 [A/C] NM_015103 PLXND1 EXON Missense_G531V exm349731 3 129305460 [T/C] NM_015103 PLXND1 EXON Missense_G531S exm349732 3 129305473 [G/C] NM_015103 PLXND1 EXON Missense_D526E exm349737 3 129305538 [C/G] NM_015103 PLXND1 EXON Missense_V505L exm2037541 3 129305540 [T/C] NM_015103 PLXND1 EXON Missense_Q504R exm349738 3 129305549 [T/C] NM_015103 PLXND1 EXON Missense_E501G exm349739 3 129305550 [T/C] NM_015103 PLXND1 EXON Missense_E501K exm349742 3 129308229 [C/G] NM_015103 PLXND1 EXON Missense_V485L exm349747 3 129308276 [A/G] NM_015103 PLXND1 EXON Missense_P469L exm349791 3 129370346 [T/C] NM_001128224,NR_033361,NM_001017395 TMCC1,TMCC1,TMCC1 EXON Missense_R533Q,Silent,Missense_R647Q exm349824 3 129546729 [T/C] NM_001128224,NM_001017395 TMCC1,TMCC1 EXON Missense_S51G,Missense_S165G exm2269525 3 129677673 [T/C] exm349844 3 129694666 [A/G] NM_007117 TRH EXON Missense_G3S exm349845 3 129694681 [G/C] NM_007117 TRH EXON Missense_L8V exm2037614 3 129694826 [G/C] NM_007117 TRH EXON Missense_R56P exm349858 3 129695542 [T/C] NM_007117 TRH EXON Missense_A71V exm349860 3 129695578 [A/G] NM_007117 TRH EXON Missense_R83H exm2238598 3 129695745 [T/C] NM_007117 TRH EXON Missense_R139W exm349877 3 129695857 [A/G] NM_007117 TRH EXON Missense_R176K exm349880 3 129695893 [T/C] NM_007117 TRH EXON Missense_P188L exm349887 3 129696006 [T/C] NM_007117 TRH EXON Missense_R226W exm349888 3 129696007 [A/G] NM_007117 TRH EXON Missense_R226Q exm349889 3 129696025 [A/G] NM_007117 TRH EXON Missense_R232Q exm349931 3 130095179 [T/C] NR_022012,NM_153264 COL6A5,COL6A5 EXON Silent,Missense_M56T exm349933 3 130095297 [A/C] NR_022012,NM_153264 COL6A5,COL6A5 EXON Silent,Missense_N95K exm349941 3 130095598 [A/G] NR_022012,NM_153264 COL6A5,COL6A5 EXON Silent,Missense_S196G exm349953 3 130098623 [C/G] NR_022012,NM_153264 COL6A5,COL6A5 EXON Silent,Missense_L344V exm349954 3 130098639 [T/C] NR_022012,NM_153264 COL6A5,COL6A5 EXON Silent,Missense_P349L exm349956 3 130098653 [T/G] NR_022012,NM_153264 COL6A5,COL6A5 EXON Silent,Missense_V354L exm349958 3 130098695 [A/G] NR_022012,NM_153264 COL6A5,COL6A5 EXON Silent,Missense_V368M exm349964 3 130103686 [T/C] NR_022012,NM_153264 COL6A5,COL6A5 EXON Silent,Missense_I447T exm349966 3 130103709 [A/G] NR_022012,NM_153264 COL6A5,COL6A5 EXON Silent,Missense_E455K exm349969 3 130103784 [T/C] NR_022012,NM_153264 COL6A5,COL6A5 EXON Silent,Nonsense_R480X exm349978 3 130104088 [T/C] NR_022012,NM_153264 COL6A5,COL6A5 EXON Silent,Missense_A581V exm349985 3 130104206 [A/G] NR_022012,NM_153264 COL6A5,COL6A5 EXON Silent,Synonymous_K620K exm349988 3 130107482 [A/C] NR_022012,NM_153264 COL6A5,COL6A5 EXON Silent,Missense_N641H exm349989 3 130107567 [T/G] NR_022012,NM_153264 COL6A5,COL6A5 EXON Silent,Missense_V669G exm349995 3 130107816 [A/G] NR_022012,NM_153264 COL6A5,COL6A5 EXON Silent,Missense_R752Q exm350002 3 130107975 [A/G] NR_022012,NM_153264 COL6A5,COL6A5 EXON Silent,Missense_H805R exm350006 3 130110197 [C/G] NR_022012,NM_153264 COL6A5,COL6A5 EXON Silent,Missense_I864M exm350009 3 130110220 [T/C] NR_022012,NM_153264 COL6A5,COL6A5 EXON Silent,Missense_S872L exm350013 3 130110291 [T/G] NR_022012,NM_153264 COL6A5,COL6A5 EXON Silent,Missense_A896S exm350020 3 130110550 [A/G] NR_022012,NM_153264 COL6A5,COL6A5 EXON Silent,Missense_D982G exm350026 3 130114082 [C/G] NR_022012,NM_153264 COL6A5,COL6A5 EXON Silent,Missense_I1114M exm350031 3 130114290 [T/C] NR_022012,NM_153264 COL6A5,COL6A5 EXON Silent,Nonsense_Q1184X exm350034 3 130116684 [A/G] NR_022012,NM_153264 COL6A5,COL6A5 EXON Silent,Missense_V1276I exm350035 3 130116696 [A/C] NR_022012,NM_153264 COL6A5,COL6A5 EXON Silent,Missense_T1280P exm350045 3 130122493 [A/G] NR_022012,NM_153264 COL6A5,COL6A5 EXON Silent,Missense_E1423G exm350047 3 130124469 [A/G] NR_022012,NM_153264 COL6A5,COL6A5 EXON Silent,Missense_G1440E exm350049 3 130124844 [A/G] NR_022012,NM_153264 COL6A5,COL6A5 EXON Silent,Missense_K1454R exm350053 3 130125116 [G/C] NR_022012,NM_153264 COL6A5,COL6A5 EXON Silent,Missense_C1477S exm350056 3 130128232 [A/G] NR_022012,NM_153264 COL6A5,COL6A5 EXON Silent,Synonymous_P1514P exm350059 3 130129322 [C/G] NR_022012,NM_153264 COL6A5,COL6A5 EXON Silent,Missense_S1539T exm350060 3 130132401 [T/C] NR_022012,NM_153264 COL6A5,COL6A5 EXON Silent,Nonsense_Q1559X exm350064 3 130134492 [T/C] NR_022012,NM_153264 COL6A5,COL6A5 EXON Silent,Missense_S1589P exm350067 3 130135644 [A/C] NR_022012,NM_153264 COL6A5,COL6A5 EXON Silent,Missense_P1623H exm350070 3 130139996 [T/G] NR_022012,NM_153264 COL6A5,COL6A5 Silent,Silent exm350077 3 130145236 [A/G] NR_022012,NM_153264 COL6A5,COL6A5 EXON Silent,Missense_R1742Q exm2264008 3 130149845 [A/C] NR_022012,NM_153264 COL6A5,COL6A5 Silent,Silent exm350082 3 130150310 [A/C] NR_022012,NM_153264 COL6A5,COL6A5 EXON Silent,Missense_E1750D exm350086 3 130150503 [T/C] NR_022012,NM_153264 COL6A5,COL6A5 EXON Silent,Missense_R1815C exm350090 3 130150704 [A/G] NR_022012,NM_153264 COL6A5,COL6A5 EXON Silent,Missense_I1882V exm350093 3 130158438 [T/C] NR_022012,NM_153264 COL6A5,COL6A5 EXON Silent,Missense_R1936W exm350099 3 130159071 [T/G] NR_022012,NM_153264 COL6A5,COL6A5 EXON Silent,Missense_D1963E exm350101 3 130159097 [A/G] NR_022012,NM_153264 COL6A5,COL6A5 EXON Silent,Missense_R1972Q exm350105 3 130159330 [T/C] NR_022012,NM_153264 COL6A5,COL6A5 EXON Silent,Nonsense_Q2050X exm350107 3 130159426 [A/G] NR_022012,NM_153264 COL6A5,COL6A5 EXON Silent,Missense_I2082V exm350113 3 130159540 [T/C] NR_022012,NM_153264 COL6A5,COL6A5 EXON Silent,Missense_R2120C exm350115 3 130159601 [C/G] NR_022012,NM_153264 COL6A5,COL6A5 EXON Silent,Missense_G2140A exm350122 3 130162355 [A/G] NR_022012,NM_153264 COL6A5,COL6A5 EXON Silent,Missense_D2175N exm350126 3 130162395 [A/G] NR_022012,NM_153264 COL6A5,COL6A5 EXON Silent,Missense_Q2188R exm350127 3 130174334 [A/G] NR_022012,NM_153264 COL6A5,COL6A5 EXON Silent,Missense_G2205D exm350134 3 130174433 [A/G] NR_022012,NM_153264 COL6A5,COL6A5 EXON Silent,Missense_Q2238R exm350135 3 130174469 [A/G] NR_022012,NM_153264 COL6A5,COL6A5 EXON Silent,Missense_E2250G exm350140 3 130187662 [T/G] NR_022012,NM_153264 COL6A5,COL6A5 EXON Silent,Nonsense_E2272X exm350142 3 130187752 [A/G] NR_022012,NM_153264 COL6A5,COL6A5 EXON Silent,Missense_V2302I exm350144 3 130187772 [T/G] NR_022012,NM_153264 COL6A5,COL6A5 EXON Silent,Missense_K2308N exm350156 3 130188088 [T/C] NR_022012,NM_153264 COL6A5,COL6A5 EXON Silent,Missense_S2414P exm350158 3 130188121 [A/G] NR_022012,NM_153264 COL6A5,COL6A5 EXON Silent,Missense_V2425I exm350161 3 130188161 [A/C] NR_022012,NM_153264 COL6A5,COL6A5 EXON Silent,Missense_Y2438S exm350164 3 130188215 [T/A] NR_022012,NM_153264 COL6A5,COL6A5 EXON Silent,Missense_E2456V exm350166 3 130188325 [T/C] NR_022012,NM_153264 COL6A5,COL6A5 EXON Silent,Missense_R2493C exm350167 3 130189738 [A/G] NR_022012,NM_153264 COL6A5,COL6A5 EXON Silent,Missense_E2501K exm350170 3 130279229 [C/G] NM_001102608 COL6A6 EXON Missense_F7L exm350174 3 130279271 [T/C] NM_001102608 COL6A6 EXON Synonymous_S21S exm350178 3 130282040 [T/C] NM_001102608 COL6A6 EXON Missense_R65C exm350181 3 130282112 [A/C] NM_001102608 COL6A6 EXON Missense_P89T exm350187 3 130282228 [A/C] NM_001102608 COL6A6 EXON Missense_D127E exm350189 3 130282298 [T/C] NM_001102608 COL6A6 EXON Missense_S151P exm350191 3 130282311 [A/G] NM_001102608 COL6A6 EXON Missense_R155Q exm2255687 3 130282315 [A/G] NM_001102608 COL6A6 EXON Synonymous_K156K exm350194 3 130282344 [T/A] NM_001102608 COL6A6 EXON Missense_V166E exm350199 3 130282383 [A/C] NM_001102608 COL6A6 EXON Missense_T179K exm350201 3 130282406 [T/C] NM_001102608 COL6A6 EXON Missense_R187W exm350202 3 130282407 [A/G] NM_001102608 COL6A6 EXON Missense_R187Q exm2037665 3 130282503 [T/C] NM_001102608 COL6A6 EXON Missense_V219A exm350212 3 130283916 [A/G] NM_001102608 COL6A6 EXON Missense_Y247C exm350218 3 130284063 [T/C] NM_001102608 COL6A6 EXON Missense_I296T exm350220 3 130284144 [A/G] NM_001102608 COL6A6 EXON Missense_R323Q exm350225 3 130284252 [A/G] NM_001102608 COL6A6 EXON Missense_G359D exm350226 3 130284284 [A/G] NM_001102608 COL6A6 EXON Missense_A370T exm350231 3 130284399 [A/G] NM_001102608 COL6A6 EXON Missense_R408Q exm350234 3 130284459 [G/C] NM_001102608 COL6A6 Silent exm350237 3 130285645 [A/C] NM_001102608 COL6A6 EXON Missense_E461A exm350239 3 130285686 [A/G] NM_001102608 COL6A6 EXON Missense_V475I exm2255688 3 130285880 [T/C] NM_001102608 COL6A6 EXON Synonymous_C539C exm350252 3 130285929 [T/C] NM_001102608 COL6A6 EXON Missense_P556S exm350259 3 130286040 [A/G] NM_001102608 COL6A6 EXON Missense_V593M exm350261 3 130286914 [T/A] NM_001102608 COL6A6 EXON Missense_I623F exm350262 3 130286987 [A/G] NM_001102608 COL6A6 EXON Missense_N647S exm350268 3 130287078 [A/C] NM_001102608 COL6A6 EXON Missense_N677K exm350271 3 130287133 [C/G] NM_001102608 COL6A6 EXON Missense_G696R exm350277 3 130287274 [A/G] NM_001102608 COL6A6 EXON Missense_V743I exm2037685 3 130287379 [T/G] NM_001102608 COL6A6 EXON Missense_V778F exm350287 3 130289732 [G/C] NM_001102608 COL6A6 EXON Missense_E824D exm350291 3 130289890 [T/A] NM_001102608 COL6A6 EXON Missense_Q877L exm350293 3 130289976 [T/C] NM_001102608 COL6A6 EXON Missense_R906C exm350294 3 130290007 [T/C] NM_001102608 COL6A6 EXON Missense_I916T exm350300 3 130290069 [T/C] NM_001102608 COL6A6 EXON Missense_R937W exm350304 3 130290123 [G/C] NM_001102608 COL6A6 EXON Missense_E955Q exm350310 3 130292871 [A/G] NM_001102608 COL6A6 EXON Missense_K1017E exm350320 3 130292998 [A/G] NM_001102608 COL6A6 EXON Missense_G1059D exm350322 3 130293046 [G/C] NM_001102608 COL6A6 EXON Missense_G1075A exm350327 3 130293208 [A/G] NM_001102608 COL6A6 EXON Missense_G1129D exm350330 3 130293232 [T/C] NM_001102608 COL6A6 EXON Missense_I1137T exm350335 3 130293336 [A/G] NM_001102608 COL6A6 EXON Missense_V1172I exm350339 3 130300413 [A/G] NM_001102608 COL6A6 EXON Missense_V1186M exm2238611 3 130300462 [G/C] NM_001102608 COL6A6 EXON Missense_T1202S exm350341 3 130300513 [A/G] NM_001102608 COL6A6 EXON Missense_R1219H exm350347 3 130300716 [A/G] NM_001102608 COL6A6 EXON Missense_T1287A exm350348 3 130300740 [T/C] NM_001102608 COL6A6 EXON Nonsense_R1295X exm350366 3 130311398 [T/C] NM_001102608 COL6A6 EXON Missense_A1429V exm350367 3 130311412 [T/G] NM_001102608 COL6A6 EXON Nonsense_G1434X exm350388 3 130317272 [A/C] NM_001102608 COL6A6 EXON Missense_Q1533K exm350394 3 130318608 [T/G] NM_001102608 COL6A6 EXON Missense_R1536I exm350405 3 130329508 [T/G] NM_001102608 COL6A6 EXON Missense_A1590S exm350409 3 130340668 [A/C] NM_001102608 COL6A6 EXON Missense_P1607T exm350411 3 130340689 [T/G] NM_001102608 COL6A6 EXON Missense_A1614S exm350412 3 130340704 [T/C] NM_001102608 COL6A6 EXON Missense_R1619C exm2037746 3 130345381 [A/G] NM_001102608 COL6A6 EXON Missense_R1644H exm350416 3 130346185 [A/G] NM_001102608 COL6A6 EXON Missense_Y1655C exm2037749 3 130346196 [A/G] NM_001102608 COL6A6 EXON Missense_G1659R exm350417 3 130346199 [T/C] NM_001102608 COL6A6 EXON Missense_R1660C exm350418 3 130353458 [A/G] NM_001102608 COL6A6 EXON Missense_S1673G exm350420 3 130354550 [T/C] NM_001102608 COL6A6 EXON Missense_I1679T exm350422 3 130360527 [T/C] NM_001102608 COL6A6 EXON Missense_S1708F exm350429 3 130361856 [A/G] NM_001102608 COL6A6 EXON Missense_R1739Q exm350435 3 130367936 [G/C] NM_001102608 COL6A6 EXON Missense_P1755A exm350438 3 130368069 [A/G] NM_001102608 COL6A6 EXON Missense_H1799R exm350442 3 130368098 [A/G] NM_001102608 COL6A6 EXON Missense_A1809T exm350447 3 130368170 [T/C] NM_001102608 COL6A6 EXON Missense_Y1833H exm350453 3 130368317 [A/G] NM_001102608 COL6A6 EXON Missense_T1882A exm2255689 3 130377525 [T/C] NM_001102608 COL6A6 EXON Synonymous_D1913D exm350458 3 130377548 [T/C] NM_001102608 COL6A6 EXON Missense_I1921T exm350459 3 130377560 [T/C] NM_001102608 COL6A6 EXON Missense_S1925F exm350469 3 130380600 [A/G] NM_001102608 COL6A6 EXON Missense_I1984V exm350472 3 130380666 [A/G] NM_001102608 COL6A6 EXON Missense_T2006A exm350491 3 130380970 [A/G] NM_001102608 COL6A6 EXON Missense_R2107Q exm350492 3 130380990 [T/G] NM_001102608 COL6A6 EXON Missense_A2114S exm350499 3 130381104 [T/C] NM_001102608 COL6A6 EXON Missense_H2152Y exm350502 3 130381152 [T/C] NM_001102608 COL6A6 EXON Missense_R2168C exm350506 3 130383924 [T/C] NM_001102608 COL6A6 EXON Missense_P2194S exm350508 3 130394046 [T/C] NM_001102608 COL6A6 EXON Synonymous_S2199S exm350511 3 130394240 [T/A] NM_001102608 COL6A6 EXON Missense_X2264L exm350522 3 130398298 [G/C] NM_014602 PIK3R4 EXON Missense_S1313T exm350529 3 130403127 [T/C] NM_014602 PIK3R4 EXON Missense_M1192V exm350536 3 130405138 [T/C] NM_014602 PIK3R4 EXON Missense_N1131S exm350543 3 130409433 [A/T] NM_014602 PIK3R4 EXON Missense_H1055L exm350545 3 130409469 [A/C] NM_014602 PIK3R4 EXON Missense_G1043V exm2275699 3 130409494 [T/C] NM_014602 PIK3R4 EXON Missense_I1035V exm350548 3 130422592 [A/T] NM_014602 PIK3R4 EXON Missense_M1025L exm350562 3 130425836 [T/C] NM_014602 PIK3R4 EXON Missense_E893K exm350572 3 130435289 [A/G] NM_014602 PIK3R4 EXON Missense_P761L exm350577 3 130437265 [G/C] NM_014602 PIK3R4 EXON Missense_L699V exm350579 3 130442259 [A/G] NM_014602 PIK3R4 EXON Synonymous_I660I exm350595 3 130452431 [A/C] NM_014602 PIK3R4 EXON Missense_A471S exm350596 3 130452435 [C/G] NM_014602 PIK3R4 EXON Missense_H469Q exm350599 3 130452500 [T/C] NM_014602 PIK3R4 EXON Missense_V448I exm350601 3 130452556 [C/G] NM_014602 PIK3R4 EXON Missense_S429C exm350607 3 130452743 [T/C] NM_014602 PIK3R4 EXON Missense_E367K exm350612 3 130452803 [A/G] NM_014602 PIK3R4 EXON Missense_R347W exm350615 3 130452817 [T/C] NM_014602 PIK3R4 EXON Missense_R342H exm2255690 3 130545096 [A/G] exm350654 3 130650929 [A/G] NM_001199182,NM_001199180,NM_001199181,NM_001199179,NM_001001485,NM_001199184,NM_001199183,NM_014382,NM_001199185,NM_001001486,NM_001001487 ATP2C1,ATP2C1,ATP2C1,ATP2C1,ATP2C1,ATP2C1,ATP2C1,ATP2C1,ATP2C1,ATP2C1,ATP2C1 EXON Silent,Missense_N95D,Missense_N95D,Missense_N61D,Missense_N61D,Missense_N45D,Missense_N45D,Missense_N61D,Missense_N61D,Missense_N61D,Missense_N61D exm350672 3 130673859 [A/G] NM_001199182,NM_001199180,NM_001199181,NM_001199179,NM_001001485,NM_001199184,NM_001199183,NM_014382,NM_001199185,NM_001001486,NM_001001487 ATP2C1,ATP2C1,ATP2C1,ATP2C1,ATP2C1,ATP2C1,ATP2C1,ATP2C1,ATP2C1,ATP2C1,ATP2C1 EXON Missense_V226I,Missense_V265I,Missense_V265I,Missense_V231I,Missense_V231I,Missense_V215I,Missense_V215I,Missense_V231I,Missense_V231I,Missense_V231I,Missense_V231I exm350676 3 130678120 [A/G] NM_001199182,NM_001199180,NM_001199181,NM_001199179,NM_001001485,NM_001199184,NM_001199183,NM_014382,NM_001199185,NM_001001486,NM_001001487 ATP2C1,ATP2C1,ATP2C1,ATP2C1,ATP2C1,ATP2C1,ATP2C1,ATP2C1,ATP2C1,ATP2C1,ATP2C1 EXON Synonymous_G273G,Synonymous_G312G,Synonymous_G312G,Synonymous_G278G,Synonymous_G278G,Synonymous_G262G,Synonymous_G262G,Synonymous_G278G,Synonymous_G278G,Synonymous_G278G,Synonymous_G278G exm350690 3 130686175 [T/C] NM_001199182,NM_001199180,NM_001199181,NM_001199179,NM_001001485,NM_001199184,NM_001199183,NM_014382,NM_001199185,NM_001001486,NM_001001487 ATP2C1,ATP2C1,ATP2C1,ATP2C1,ATP2C1,ATP2C1,ATP2C1,ATP2C1,ATP2C1,ATP2C1,ATP2C1 EXON Missense_A402V,Missense_A441V,Missense_A441V,Missense_A407V,Missense_A407V,Missense_A391V,Missense_A391V,Missense_A407V,Missense_A407V,Missense_A407V,Missense_A407V exm350696 3 130688175 [A/G] NM_001199182,NM_001199180,NM_001199181,NM_001199179,NM_001001485,NM_001199184,NM_001199183,NM_014382,NM_001199185,NM_001001486,NM_001001487 ATP2C1,ATP2C1,ATP2C1,ATP2C1,ATP2C1,ATP2C1,ATP2C1,ATP2C1,ATP2C1,ATP2C1,ATP2C1 EXON Missense_A445T,Missense_A484T,Missense_A484T,Missense_A450T,Missense_A450T,Missense_A434T,Missense_A434T,Missense_A450T,Missense_A450T,Missense_A450T,Missense_A450T exm350704 3 130698145 [C/G] NM_001199182,NM_001199180,NM_001199181,NM_001199179,NM_001001485,NM_001199184,NM_001199183,NM_014382,NM_001199185,NM_001001486,NM_001001487 ATP2C1,ATP2C1,ATP2C1,ATP2C1,ATP2C1,ATP2C1,ATP2C1,ATP2C1,ATP2C1,ATP2C1,ATP2C1 EXON Missense_L536F,Missense_L575F,Missense_L575F,Missense_L541F,Missense_L541F,Missense_L525F,Missense_L525F,Missense_L541F,Missense_L541F,Missense_L541F,Missense_L541F exm350738 3 130732909 [T/C] NM_001199182,NM_001199180,NM_001001485,NM_001199183,NM_001199185,NM_001001486,NM_001001487,NM_014065 ATP2C1,ATP2C1,ATP2C1,ATP2C1,ATP2C1,ATP2C1,ATP2C1,ASTE1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_I678V exm350740 3 130732963 [A/G] NM_001199182,NM_001199180,NM_001001485,NM_001199183,NM_001199185,NM_001001486,NM_001001487,NM_014065 ATP2C1,ATP2C1,ATP2C1,ATP2C1,ATP2C1,ATP2C1,ATP2C1,ASTE1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_R660W exm350741 3 130732991 [T/G] NM_001199182,NM_001199180,NM_001001485,NM_001199183,NM_001199185,NM_001001486,NM_001001487,NM_014065 ATP2C1,ATP2C1,ATP2C1,ATP2C1,ATP2C1,ATP2C1,ATP2C1,ASTE1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_H650Q exm350747 3 130733092 [T/C] NM_001199182,NM_001199180,NM_001001485,NM_001199183,NM_001199185,NM_001001486,NM_001001487,NM_014065 ATP2C1,ATP2C1,ATP2C1,ATP2C1,ATP2C1,ATP2C1,ATP2C1,ASTE1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_A617T exm350749 3 130733118 [A/C] NM_001199182,NM_001199180,NM_001001485,NM_001199183,NM_001199185,NM_001001486,NM_001001487,NM_014065 ATP2C1,ATP2C1,ATP2C1,ATP2C1,ATP2C1,ATP2C1,ATP2C1,ASTE1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_F608C exm350753 3 130733190 [A/G] NM_001199182,NM_001199180,NM_001001485,NM_001199183,NM_001199185,NM_001001486,NM_001001487,NM_014065 ATP2C1,ATP2C1,ATP2C1,ATP2C1,ATP2C1,ATP2C1,ATP2C1,ASTE1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_L584P exm350754 3 130733200 [T/A] NM_001199182,NM_001199180,NM_001001485,NM_001199183,NM_001199185,NM_001001486,NM_001001487,NM_014065 ATP2C1,ATP2C1,ATP2C1,ATP2C1,ATP2C1,ATP2C1,ATP2C1,ASTE1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_C581S exm350763 3 130737383 [T/C] NM_014065 ASTE1 EXON Missense_V494M exm350769 3 130742847 [A/G] NM_014065 ASTE1 Silent exm350771 3 130742900 [A/C] NM_014065 ASTE1 EXON Missense_I417M exm350772 3 130742901 [A/G] NM_014065 ASTE1 EXON Missense_I417T exm350784 3 130743369 [T/C] NM_014065 ASTE1 EXON Missense_N261S exm350786 3 130743427 [T/G] NM_014065 ASTE1 EXON Missense_P242T exm350788 3 130743458 [A/G] NM_014065 ASTE1 EXON Synonymous_I231I exm350790 3 130743495 [A/G] NM_014065 ASTE1 EXON Missense_A219V exm350792 3 130743574 [T/C] NM_014065 ASTE1 EXON Missense_I193V exm350803 3 130743962 [T/G] NM_014065 ASTE1 EXON Missense_F63L exm350809 3 130744074 [A/G] NM_014065 ASTE1 EXON Missense_T26I exm350812 3 130744130 [A/C] NM_014065 ASTE1 EXON Missense_M7I exm350815 3 130748640 [A/G] NM_145910,NM_024800,NM_001146003 NEK11,NEK11,NEK11 EXON Missense_V30M,Missense_V30M,Missense_V30M exm350818 3 130748679 [G/C] NM_145910,NM_024800,NM_001146003 NEK11,NEK11,NEK11 EXON Missense_V43L,Missense_V43L,Missense_V43L exm2037926 3 130799419 [T/C] NM_145910,NM_024800,NM_001146003 NEK11,NEK11,NEK11 EXON Missense_T108M,Missense_T108M,Missense_T108M exm350827 3 130828651 [A/G] NM_145910,NM_024800,NM_001146003 NEK11,NEK11,NEK11 EXON Missense_R114Q,Missense_R114Q,Missense_R114Q exm2238618 3 130828678 [A/G] NM_145910,NM_024800,NM_001146003 NEK11,NEK11,NEK11 EXON Missense_Y123C,Missense_Y123C,Missense_Y123C exm350839 3 130852702 [A/G] NM_145910,NM_024800,NM_001146003 NEK11,NEK11,NEK11 EXON Missense_M183I,Missense_M183I,Missense_M183I exm2037938 3 130871515 [A/G] NM_145910,NM_024800,NM_001146003 NEK11,NEK11,NEK11 EXON Missense_E280K,Missense_E280K,Missense_E280K exm350851 3 130871553 [A/G] NM_145910,NM_024800,NM_001146003 NEK11,NEK11,NEK11 EXON Synonymous_Q292Q,Synonymous_Q292Q,Synonymous_Q292Q exm350859 3 130881305 [T/C] NM_145910,NM_024800,NM_001146003 NEK11,NEK11,NEK11 EXON Missense_M339T,Missense_M339T,Missense_M339T exm350860 3 130881308 [T/C] NM_145910,NM_024800,NM_001146003 NEK11,NEK11,NEK11 EXON Missense_T340M,Missense_T340M,Missense_T340M exm350878 3 130889683 [A/G] NM_145910,NM_024800,NM_001146003 NEK11,NEK11,NEK11 EXON Missense_E451K,Missense_E451K,Missense_E451K exm350880 3 130889695 [A/G] NM_145910,NM_024800,NM_001146003 NEK11,NEK11,NEK11 EXON Missense_I455V,Missense_I455V,Missense_I455V exm350891 3 130947435 [T/A] NM_024800,NM_001146003 NEK11,NEK11 EXON Missense_E488V,Missense_E488V exm2238621 3 130992343 [T/C] NM_024800,NM_001146003 NEK11,NEK11 EXON Missense_M548T,Silent exm350901 3 130992385 [T/C] NM_024800,NM_001146003 NEK11,NEK11 EXON Missense_V562A,Silent exm350903 3 130992403 [A/T] NM_024800,NM_001146003 NEK11,NEK11 EXON Missense_M568K,Silent exm350904 3 130992408 [T/C] NM_024800,NM_001146003 NEK11,NEK11 EXON Missense_R570C,Silent exm350908 3 131068471 [A/C] NM_024800,NM_001146003,NR_038976 NEK11,NEK11,LOC339874 EXON Missense_Q597K,Synonymous_I564I,Silent exm350911 3 131068489 [T/G] NM_024800,NM_001146003,NR_038976 NEK11,NEK11,LOC339874 EXON Nonsense_E603X,Missense_Q570H,Silent exm350912 3 131068495 [T/C] NM_024800,NM_001146003,NR_038976 NEK11,NEK11,LOC339874 EXON Missense_R605C,Synonymous_S572S,Silent exm350913 3 131068496 [A/G] NM_024800,NM_001146003,NR_038976 NEK11,NEK11,LOC339874 EXON Missense_R605H,Missense_A573T,Silent exm350914 3 131068497 [T/C] NM_024800,NM_001146003,NR_038976 NEK11,NEK11,LOC339874 EXON Synonymous_R605R,Missense_A573V,Silent exm2037966 3 131068498 [A/G] NM_024800,NM_001146003,NR_038976 NEK11,NEK11,LOC339874 EXON Missense_E606K,Synonymous_A573A,Silent exm350915 3 131068509 [A/G] NM_024800,NM_001146003,NR_038976 NEK11,NEK11,LOC339874 EXON Synonymous_E609E,Missense_K577R,Silent exm350918 3 131068567 [A/G] NM_024800,NM_001146003,NR_038976 NEK11,NEK11,LOC339874 EXON Missense_E629K,Synonymous_K596K,Silent exm350919 3 131068578 [G/C] NM_024800,NM_001146003,NR_038976 NEK11,NEK11,LOC339874 EXON Synonymous_L632L,Missense_X600S,Silent exm350924 3 131068594 [T/G] NM_024800,NM_001146003,NR_038976 NEK11,NEK11,LOC339874 EXON Nonsense_E638X,Silent,Silent exm2255692 3 131100699 [T/G] NM_001171905,NM_152395,NM_001171906,NR_033268 NUDT16,NUDT16,NUDT16,NUDT16 EXON Silent,Synonymous_S17S,Synonymous_S17S,Silent exm350934 3 131100909 [A/G] NM_001171905,NM_152395,NM_001171906,NR_033268 NUDT16,NUDT16,NUDT16,NUDT16 EXON Missense_G7E,Missense_G53E,Missense_G53E,Silent exm350939 3 131100984 [A/G] NM_001171905,NM_152395,NM_001171906,NR_033268 NUDT16,NUDT16,NUDT16,NUDT16 EXON Missense_R32H,Missense_R78H,Missense_R78H,Silent exm2238624 3 131101224 [A/C] NM_001171905,NM_152395,NM_001171906,NR_033268 NUDT16,NUDT16,NUDT16,NUDT16 EXON Silent,Silent,Missense_P158Q,Silent exm350949 3 131102097 [T/C] NM_001171905,NM_152395,NR_033268 NUDT16,NUDT16,NUDT16 EXON Missense_A121V,Missense_A167V,Silent exm2255693 3 131102185 [A/G] NM_001171905,NM_152395,NR_033268 NUDT16,NUDT16,NUDT16 EXON Silent,Synonymous_X196X,Silent exm350956 3 131102189 [T/C] NM_001171905,NM_152395,NR_033268 NUDT16,NUDT16,NUDT16 EXON Missense_A128V,Silent,Silent exm350959 3 131181581 [T/C] NM_007208 MRPL3 EXON Missense_I345V exm350961 3 131181605 [T/C] NM_007208 MRPL3 EXON Missense_V337M exm350965 3 131181683 [T/C] NM_007208 MRPL3 EXON Missense_G311S exm2255694 3 131186944 [A/G] NM_007208 MRPL3 EXON Synonymous_C295C exm350971 3 131186967 [A/G] NM_007208 MRPL3 EXON Missense_S288P exm350974 3 131188574 [A/G] NM_007208 MRPL3 EXON Missense_M261T exm350977 3 131190061 [T/C] NM_007208 MRPL3 EXON Missense_H231R exm350986 3 131206542 [A/C] NM_007208 MRPL3 EXON Missense_V204G exm350988 3 131206557 [T/C] NM_007208 MRPL3 EXON Missense_R199H exm350998 3 131217121 [T/C] NM_007208 MRPL3 EXON Missense_V124I exm2261380 3 131323142 [A/G] NM_130808 CPNE4 Silent exm351068 3 131415435 [T/C] NM_130808 CPNE4 EXON Missense_N153S exm351076 3 131442345 [T/C] NM_130808 CPNE4 EXON Missense_H102R exm351080 3 131442358 [T/C] NM_130808 CPNE4 EXON Missense_I98V exm351083 3 131442381 [T/C] NM_130808 CPNE4 EXON Missense_R90H exm2269527 3 131530483 [T/C] NM_130808 CPNE4 Silent exm-rs6439334 3 131740655 [A/G] NM_130808 CPNE4 Silent exm-rs13076253 3 131751775 [A/C] NM_130808 CPNE4 Silent exm-rs6775745 3 131813900 [A/G] exm2265504 3 131879146 [A/G] exm351091 3 132036310 [A/G] NM_001134194,NM_001099 ACPP,ACPP EXON Missense_A4T,Missense_A4T exm351096 3 132036382 [T/C] NM_001134194,NM_001099 ACPP,ACPP EXON Nonsense_R28X,Nonsense_R28X exm351117 3 132056349 [A/G] NM_001134194,NM_001099 ACPP,ACPP EXON Missense_S169N,Missense_S169N exm351126 3 132063829 [A/G] NM_001134194,NM_001099 ACPP,ACPP EXON Missense_R236K,Missense_R236K exm2038062 3 132068845 [T/C] NM_001134194,NM_001099 ACPP,ACPP EXON Missense_A288V,Missense_A288V exm351139 3 132071602 [T/G] NM_001134194,NM_001099 ACPP,ACPP EXON Missense_D301E,Missense_D301E exm351142 3 132071668 [T/G] NM_001134194,NM_001099 ACPP,ACPP Silent,Silent exm351144 3 132075565 [T/C] NM_001134194,NM_001099 ACPP,ACPP EXON Missense_T335M,Missense_T335M exm2038069 3 132075720 [T/C] NM_001134194,NM_001099 ACPP,ACPP EXON Silent,Missense_X387Q exm-rs17404153 3 132163200 [T/G] NM_015268 DNAJC13 Silent exm351182 3 132172268 [T/C] NM_015268 DNAJC13 EXON Missense_R222C exm351190 3 132172498 [T/C] NM_015268 DNAJC13 EXON Missense_P267L exm351207 3 132175595 [T/C] NM_015268 DNAJC13 EXON Missense_A423V exm351213 3 132176139 [T/C] NM_015268 DNAJC13 EXON Missense_V459A exm351238 3 132185195 [A/C] NM_015268 DNAJC13 EXON Missense_D674A exm351239 3 132185236 [A/G] NM_015268 DNAJC13 EXON Missense_M688V exm351244 3 132186121 [A/G] NM_015268 DNAJC13 EXON Missense_M724I exm351248 3 132193820 [A/G] NM_015268 DNAJC13 EXON Missense_K779R exm351249 3 132193853 [A/C] NM_015268 DNAJC13 EXON Missense_S790Y exm351250 3 132193894 [A/G] NM_015268 DNAJC13 EXON Missense_A804T exm2038110 3 132196651 [A/G] NM_015268 DNAJC13 EXON Missense_A822T exm351254 3 132196715 [A/G] NM_015268 DNAJC13 EXON Missense_E843G exm351260 3 132196983 [A/G] NM_015268 DNAJC13 EXON Missense_R903K exm351268 3 132199295 [A/G] NM_015268 DNAJC13 EXON Missense_R952Q exm351279 3 132203494 [T/C] NM_015268 DNAJC13 EXON Missense_T1082I exm351296 3 132211341 [A/G] NM_015268 DNAJC13 EXON Missense_Y1236C exm351303 3 132213034 [A/G] NM_015268 DNAJC13 EXON Missense_E1291G exm351306 3 132213932 [A/G] NM_015268 DNAJC13 EXON Synonymous_P1314P exm351312 3 132215496 [A/G] NM_015268 DNAJC13 EXON Missense_R1382H exm351314 3 132218012 [A/G] NM_015268 DNAJC13 EXON Missense_R1400Q exm351315 3 132218075 [T/C] NM_015268 DNAJC13 EXON Missense_A1421V exm351323 3 132218621 [A/G] NM_015268 DNAJC13 EXON Missense_R1462H exm351324 3 132218623 [T/G] NM_015268 DNAJC13 EXON Missense_A1463S exm351327 3 132219665 [A/C] NM_015268 DNAJC13 EXON Missense_S1482R exm351328 3 132221139 [T/C] NM_015268 DNAJC13 EXON Missense_P1515S exm351343 3 132222224 [A/C] NM_015268 DNAJC13 EXON Missense_E1628A exm351348 3 132224222 [A/C] NM_015268 DNAJC13 EXON Missense_E1654A exm2038144 3 132224244 [T/A] NM_015268 DNAJC13 EXON Missense_E1661D exm351352 3 132226100 [A/G] NM_015268 DNAJC13 EXON Missense_Y1673C exm351355 3 132229948 [T/C] NM_015268 DNAJC13 EXON Missense_I1718T exm351356 3 132230013 [C/G] NM_015268 DNAJC13 EXON Missense_E1740Q exm351357 3 132230035 [T/C] NM_015268 DNAJC13 EXON Missense_P1747L exm351362 3 132235269 [A/G] NM_015268 DNAJC13 EXON Missense_R1830H exm351370 3 132235602 [A/G] NM_015268 DNAJC13 EXON Missense_R1872Q exm351373 3 132241682 [T/C] NM_015268 DNAJC13 EXON Missense_T1895M exm351377 3 132241794 [T/G] NM_015268 DNAJC13 EXON Missense_D1932E exm351379 3 132242012 [A/C] NM_015268 DNAJC13 EXON Missense_N1952T exm2277246 3 132242480 [A/G] NM_015268 DNAJC13 EXON Missense_V1995I exm2238634 3 132244543 [T/G] NM_015268 DNAJC13 EXON Missense_H2050Q exm351399 3 132244562 [T/G] NM_015268 DNAJC13 EXON Missense_A2057S exm2038172 3 132247075 [A/G] NM_015268 DNAJC13 EXON Missense_E2142K exm351408 3 132247160 [T/G] NM_015268 DNAJC13 EXON Missense_L2170W exm351419 3 132257069 [A/G] NM_015268 DNAJC13 EXON Missense_M2225I exm351427 3 132277849 [T/C] NM_032169,NR_037804 ACAD11,NPHP3-ACAD11 EXON Missense_R770Q,Silent exm351436 3 132278764 [G/C] NM_032169,NR_037804 ACAD11,NPHP3-ACAD11 EXON Missense_A714G,Silent exm351437 3 132279956 [T/C] NM_032169,NR_037804 ACAD11,NPHP3-ACAD11 EXON Missense_A703T,Silent exm351438 3 132280031 [A/G] NM_032169,NR_037804 ACAD11,NPHP3-ACAD11 EXON Missense_R678C,Silent exm2269668 3 132294075 [T/C] NM_032169,NR_037804 ACAD11,NPHP3-ACAD11 Silent,Silent exm351442 3 132294653 [A/G] NM_032169,NR_037804 ACAD11,NPHP3-ACAD11 EXON Missense_T655I,Silent exm351443 3 132294659 [T/C] NM_032169,NR_037804 ACAD11,NPHP3-ACAD11 EXON Missense_R653Q,Silent exm351458 3 132297687 [A/G] NM_032169,NR_037804 ACAD11,NPHP3-ACAD11 EXON Missense_T576I,Silent exm351461 3 132297725 [T/C] NM_032169,NR_037804 ACAD11,NPHP3-ACAD11 EXON Synonymous_R563R,Silent exm351463 3 132298373 [T/C] NM_032169,NR_037804 ACAD11,NPHP3-ACAD11 EXON Missense_I551V,Silent exm351505 3 132324000 [A/C] NM_032169,NR_037804 ACAD11,NPHP3-ACAD11 EXON Missense_K488N,Silent exm351511 3 132337477 [A/C] NM_032169,NR_037804 ACAD11,NPHP3-ACAD11 Silent,Silent exm351512 3 132337553 [T/C] NM_032169,NR_037804 ACAD11,NPHP3-ACAD11 EXON Missense_V447M,Silent exm351514 3 132337565 [T/C] NM_032169,NR_037804 ACAD11,NPHP3-ACAD11 EXON Missense_G443R,Silent exm351517 3 132338334 [C/G] NM_032169,NR_037804 ACAD11,NPHP3-ACAD11 EXON Missense_P418R,Silent exm351519 3 132338346 [T/G] NM_032169,NR_037804 ACAD11,NPHP3-ACAD11 EXON Missense_K414T,Silent exm351525 3 132345591 [T/C] NM_032169,NR_037804 ACAD11,NPHP3-ACAD11 EXON Missense_E381K,Silent exm351527 3 132345648 [A/C] NM_032169,NR_037804 ACAD11,NPHP3-ACAD11 EXON Missense_V362L,Silent exm351532 3 132347185 [A/G] NM_032169,NR_037804 ACAD11,NPHP3-ACAD11 EXON Nonsense_R357X,Silent exm351539 3 132350185 [T/C] NM_032169,NR_037804 ACAD11,NPHP3-ACAD11 EXON Missense_G281R,Silent exm351554 3 132360866 [A/G] NM_032169,NR_037804 ACAD11,NPHP3-ACAD11 EXON Missense_S163P,Silent exm351557 3 132360883 [T/C] NM_032169,NR_037804 ACAD11,NPHP3-ACAD11 EXON Missense_R157H,Silent exm351560 3 132360965 [A/G] NM_032169,NR_037804 ACAD11,NPHP3-ACAD11 EXON Missense_R130C,Silent exm351561 3 132360973 [T/C] NM_032169,NR_037804 ACAD11,NPHP3-ACAD11 EXON Missense_R127Q,Silent exm351563 3 132361538 [T/C] NM_032169,NR_037804 ACAD11,NPHP3-ACAD11 EXON Missense_V120I,Silent exm351570 3 132361606 [A/G] NM_032169,NR_037804 ACAD11,NPHP3-ACAD11 EXON Missense_I97T,Silent exm351573 3 132363726 [T/C] NM_032169,NR_037804 ACAD11,NPHP3-ACAD11 EXON Missense_N55S,Silent exm351576 3 132378459 [A/G] NM_032169,NR_037804,NM_198329 ACAD11,NPHP3-ACAD11,UBA5 EXON Missense_I46T,Silent,Silent exm2038231 3 132378559 [A/C] NM_032169,NR_037804,NM_198329 ACAD11,NPHP3-ACAD11,UBA5 EXON Nonsense_E13X,Silent,Silent exm351585 3 132379481 [A/G] NR_037804,NM_198329,NM_024818 NPHP3-ACAD11,UBA5,UBA5 EXON Silent,Silent,Missense_G34R exm351593 3 132384704 [A/G] NR_037804,NM_198329,NM_024818 NPHP3-ACAD11,UBA5,UBA5 EXON Silent,Missense_D11N,Missense_D67N exm351617 3 132394747 [A/G] NR_037804,NM_198329,NM_024818 NPHP3-ACAD11,UBA5,UBA5 EXON Silent,Missense_A315T,Missense_A371T exm351622 3 132400776 [A/G] NR_037804,NM_153240 NPHP3-ACAD11,NPHP3 EXON Silent,Missense_F1324S exm351625 3 132400834 [A/G] NR_037804,NM_153240 NPHP3-ACAD11,NPHP3 EXON Silent,Missense_R1305C exm2038247 3 132400851 [T/C] NR_037804,NM_153240 NPHP3-ACAD11,NPHP3 EXON Silent,Missense_G1299D exm351636 3 132401603 [G/C] NR_037804,NM_153240 NPHP3-ACAD11,NPHP3 EXON Silent,Missense_S1252R exm351648 3 132403418 [T/C] NR_037804,NM_153240 NPHP3-ACAD11,NPHP3 EXON Silent,Missense_A1184T exm351651 3 132403468 [T/C] NR_037804,NM_153240 NPHP3-ACAD11,NPHP3 EXON Silent,Missense_R1167H exm351652 3 132403474 [T/C] NR_037804,NM_153240 NPHP3-ACAD11,NPHP3 EXON Silent,Missense_R1165Q exm351659 3 132405152 [T/C] NR_037804,NM_153240 NPHP3-ACAD11,NPHP3 EXON Silent,Missense_R1094Q exm351663 3 132405212 [T/C] NR_037804,NM_153240 NPHP3-ACAD11,NPHP3 EXON Silent,Missense_R1074H exm351681 3 132407920 [G/C] NR_037804,NM_153240 NPHP3-ACAD11,NPHP3 EXON Silent,Missense_Q961E exm351686 3 132408031 [T/C] NR_037804,NM_153240 NPHP3-ACAD11,NPHP3 EXON Silent,Missense_D924N exm351689 3 132408049 [T/C] NR_037804,NM_153240 NPHP3-ACAD11,NPHP3 EXON Silent,Missense_M918V exm2255698 3 132409455 [T/C] NR_037804,NM_153240 NPHP3-ACAD11,NPHP3 EXON Silent,Synonymous_P870P exm351696 3 132409455 [T/C] NR_037804,NM_153240 NPHP3-ACAD11,NPHP3 EXON Silent,Synonymous_P870P exm351698 3 132410043 [A/G] NR_037804,NM_153240 NPHP3-ACAD11,NPHP3 EXON Silent,Nonsense_Q855X exm351702 3 132410109 [C/G] NR_037804,NM_153240 NPHP3-ACAD11,NPHP3 EXON Silent,Missense_E833Q exm2255699 3 132411531 [A/G] NR_037804,NM_153240 NPHP3-ACAD11,NPHP3 EXON Silent,Synonymous_Y814Y exm2038279 3 132415614 [T/C] NR_037804,NM_153240 NPHP3-ACAD11,NPHP3 EXON Silent,Missense_N711S exm351720 3 132415632 [T/C] NR_037804,NM_153240 NPHP3-ACAD11,NPHP3 EXON Silent,Missense_R705H exm351726 3 132416206 [T/C] NR_037804,NM_153240 NPHP3-ACAD11,NPHP3 EXON Silent,Synonymous_R662R exm351729 3 132418206 [A/G] NR_037804,NM_153240 NPHP3-ACAD11,NPHP3 EXON Silent,Missense_P659L exm351734 3 132418796 [A/G] NR_037804,NM_153240 NPHP3-ACAD11,NPHP3 EXON Silent,Missense_I618T exm2038282 3 132418832 [T/C] NR_037804,NM_153240 NPHP3-ACAD11,NPHP3 EXON Silent,Nonsense_W606X exm351737 3 132418836 [A/G] NR_037804,NM_153240 NPHP3-ACAD11,NPHP3 EXON Silent,Missense_R605C exm351754 3 132427031 [A/G] NR_037804,NM_153240 NPHP3-ACAD11,NPHP3 EXON Silent,Missense_R397C exm351756 3 132427048 [C/G] NR_037804,NM_153240 NPHP3-ACAD11,NPHP3 EXON Silent,Missense_P391R exm351757 3 132427063 [T/C] NR_037804,NM_153240 NPHP3-ACAD11,NPHP3 EXON Silent,Missense_N386S exm351761 3 132432060 [A/G] NR_037804,NM_153240 NPHP3-ACAD11,NPHP3 EXON Silent,Missense_I343T exm351764 3 132433942 [A/T] NR_037804,NM_153240 NPHP3-ACAD11,NPHP3 EXON Silent,Missense_D315V exm351778 3 132437855 [T/C] NR_037804,NM_153240 NPHP3-ACAD11,NPHP3 EXON Silent,Missense_N218S exm351782 3 132437918 [A/C] NR_037804,NM_153240 NPHP3-ACAD11,NPHP3 EXON Silent,Missense_L197R exm351788 3 132438619 [A/G] NR_037804,NM_153240 NPHP3-ACAD11,NPHP3 EXON Silent,Missense_A150V exm2265505 3 132609907 [A/G] exm-rs6439371 3 132610752 [A/G] exm-rs2369955 3 132693588 [A/C] exm2038319 3 133098661 [G/C] NM_001136469,NM_023943 TMEM108,TMEM108 EXON Missense_E36Q,Missense_E36Q exm351823 3 133098806 [T/C] NM_001136469,NM_023943 TMEM108,TMEM108 EXON Missense_P84L,Missense_P84L exm351830 3 133098910 [T/C] NM_001136469,NM_023943 TMEM108,TMEM108 EXON Missense_P119S,Missense_P119S exm351833 3 133098949 [T/C] NM_001136469,NM_023943 TMEM108,TMEM108 EXON Missense_R132C,Missense_R132C exm351848 3 133099096 [T/C] NM_001136469,NM_023943 TMEM108,TMEM108 EXON Missense_R181C,Missense_R181C exm351852 3 133099186 [T/C] NM_001136469,NM_023943 TMEM108,TMEM108 EXON Missense_R211W,Missense_R211W exm2255702 3 133099245 [A/G] NM_001136469,NM_023943 TMEM108,TMEM108 EXON Synonymous_P230P,Synonymous_P230P exm351863 3 133099417 [A/G] NM_001136469,NM_023943 TMEM108,TMEM108 EXON Missense_G288S,Missense_G288S exm351877 3 133099625 [T/C] NM_001136469,NM_023943 TMEM108,TMEM108 EXON Missense_T357M,Missense_T357M exm351880 3 133099711 [C/G] NM_001136469,NM_023943 TMEM108,TMEM108 EXON Missense_P386A,Missense_P386A exm2038332 3 133109080 [A/G] NM_001136469,NM_023943 TMEM108,TMEM108 EXON Missense_N503D,Missense_N503D exm2269528 3 133112473 [T/C] NM_001136469,NM_023943 TMEM108,TMEM108 Silent,Silent exm351904 3 133114726 [T/C] NM_001136469,NM_023943 TMEM108,TMEM108 EXON Missense_R542C,Missense_R542C exm351918 3 133118994 [T/C] NM_003571 BFSP2 EXON Missense_R23C exm351919 3 133118995 [A/G] NM_003571 BFSP2 EXON Missense_R23H exm351930 3 133119192 [T/C] NM_003571 BFSP2 EXON Missense_R89W exm2038341 3 133119306 [G/C] NM_003571 BFSP2 EXON Missense_Q127E exm351937 3 133119363 [T/C] NM_003571 BFSP2 EXON Missense_R146C exm351938 3 133119364 [T/G] NM_003571 BFSP2 EXON Missense_R146L exm351939 3 133119385 [T/A] NM_003571 BFSP2 EXON Missense_L153Q exm351946 3 133167356 [A/G] NM_003571 BFSP2 EXON Missense_R199Q exm2238641 3 133167427 [G/C] NM_003571 BFSP2 EXON Missense_L223V exm351954 3 133169238 [T/C] NM_003571 BFSP2 EXON Missense_T274M exm351958 3 133169282 [A/G] NM_003571 BFSP2 EXON Missense_E289K exm2038350 3 133169284 [C/G] NM_003571 BFSP2 EXON Missense_E289D exm351961 3 133185734 [T/G] NM_003571 BFSP2 EXON Missense_R318S exm351963 3 133185774 [T/C] NM_003571 BFSP2 EXON Nonsense_Q332X exm351967 3 133191280 [T/C] NM_003571 BFSP2 EXON Missense_A372V exm351969 3 133191330 [A/G] NM_003571 BFSP2 EXON Missense_A389T exm351973 3 133191385 [A/C] NM_003571 BFSP2 EXON Missense_A407D exm2265621 3 133293618 [A/G] NM_017548,NM_001134422,NM_001134423 CDV3,CDV3,CDV3 Silent,Silent,Silent exm351986 3 133302865 [A/G] NM_017548,NM_001134422,NM_001134423 CDV3,CDV3,CDV3 EXON Missense_D113N,Missense_D113N,Missense_D11N exm2038370 3 133302985 [T/C] NM_017548,NM_001134422,NM_001134423 CDV3,CDV3,CDV3 EXON Missense_P153S,Missense_P153S,Missense_P51S exm352009 3 133320184 [A/C] NM_007027 TOPBP1 EXON Missense_I1493M exm352011 3 133320222 [T/C] NM_007027 TOPBP1 EXON Missense_V1481I exm352015 3 133327416 [T/C] NM_007027 TOPBP1 EXON Missense_C1463Y exm2038381 3 133327432 [A/C] NM_007027 TOPBP1 EXON Missense_A1458S exm352031 3 133336030 [A/G] NM_007027 TOPBP1 EXON Missense_P1245S exm352035 3 133336147 [A/G] NM_007027 TOPBP1 EXON Missense_R1206C exm352036 3 133336155 [C/G] NM_007027 TOPBP1 EXON Missense_G1203A exm352037 3 133337092 [T/C] NM_007027 TOPBP1 EXON Missense_Q1186R exm352047 3 133341959 [T/C] NM_007027 TOPBP1 EXON Missense_S1052G exm352049 3 133341988 [T/C] NM_007027 TOPBP1 EXON Missense_N1042S exm352052 3 133342192 [T/C] NM_007027 TOPBP1 EXON Missense_R1013Q exm2038398 3 133342223 [T/C] NM_007027 TOPBP1 EXON Missense_A1003T exm352057 3 133342288 [T/C] NM_007027 TOPBP1 EXON Missense_C981Y exm352058 3 133342945 [T/G] NM_007027 TOPBP1 EXON Missense_S960Y exm352072 3 133356720 [T/C] NM_007027 TOPBP1 EXON Synonymous_K840K exm352073 3 133356733 [G/C] NM_007027 TOPBP1 EXON Missense_S836C exm352075 3 133356790 [A/G] NM_007027 TOPBP1 EXON Missense_S817L exm352078 3 133356838 [T/C] NM_007027 TOPBP1 EXON Missense_Q801R exm352085 3 133358897 [T/G] NM_007027 TOPBP1 EXON Missense_L713F exm352092 3 133362207 [T/C] NM_007027 TOPBP1 EXON Missense_I620V exm352096 3 133363070 [T/A] NM_007027 TOPBP1 EXON Missense_T548S exm352100 3 133363195 [A/G] NM_007027 TOPBP1 EXON Missense_T506M exm352103 3 133368362 [T/G] NM_007027 TOPBP1 EXON Missense_K457Q exm352108 3 133371326 [A/T] NM_007027 TOPBP1 EXON Missense_D357V exm352110 3 133371423 [T/C] NM_007027 TOPBP1 EXON Missense_V325I exm352113 3 133371470 [T/C] NM_007027 TOPBP1 EXON Missense_R309H exm352114 3 133371471 [A/G] NM_007027 TOPBP1 EXON Missense_R309C exm352116 3 133372234 [T/C] NM_007027 TOPBP1 EXON Missense_M293V exm352119 3 133374188 [T/C] NM_007027 TOPBP1 EXON Missense_M230V exm2038433 3 133374204 [A/C] NM_007027 TOPBP1 EXON Missense_K224N exm352122 3 133374301 [A/G] NM_007027 TOPBP1 EXON Missense_M192T exm352123 3 133374307 [A/G] NM_007027 TOPBP1 EXON Missense_I190T exm352129 3 133376750 [T/C] NM_007027 TOPBP1 EXON Missense_I85M exm352130 3 133377883 [T/C] NM_007027 TOPBP1 EXON Missense_V66I exm-rs2718812 3 133399702 [T/C] exm-rs1867504 3 133410661 [A/G] exm352145 3 133467337 [T/G] NM_001063 TF EXON Missense_R42L exm352147 3 133467366 [A/G] NM_001063 TF EXON Missense_D52N exm352148 3 133467377 [T/A] NM_001063 TF EXON Missense_S55R exm352153 3 133472449 [T/C] NM_001063 TF EXON Missense_A76V exm352155 3 133472503 [A/G] NM_001063 TF EXON Missense_N94S exm2038450 3 133472534 [A/T] NM_001063 TF EXON Nonsense_Y104X exm352166 3 133474225 [T/C] NM_001063 TF EXON Missense_S174L exm-rs1799852 3 133475722 [T/C] NM_001063 TF EXON Synonymous_L247L exm352193 3 133475812 [A/G] NM_001063 TF EXON Missense_G277S exm352197 3 133476629 [A/G] NM_001063 TF EXON Missense_D296G exm352201 3 133476694 [T/G] NM_001063 TF EXON Missense_A318S exm352202 3 133476698 [A/G] NM_001063 TF EXON Missense_H319R exm352206 3 133476769 [T/C] NM_001063 TF EXON Missense_R343W exm2038465 3 133476778 [T/C] NM_001063 TF EXON Missense_R346W exm-rs3811647 3 133484029 [A/G] NM_001063 TF Silent exm352227 3 133485133 [A/G] NM_001063 TF EXON Missense_I448V exm352228 3 133485143 [T/C] NM_001063 TF EXON Missense_V451A exm352244 3 133494307 [T/G] NM_001063 TF EXON Missense_L573R exm352245 3 133494354 [T/C] NM_001063 TF EXON Missense_P589S exm352246 3 133494363 [A/G] NM_001063 TF EXON Missense_E592K exm2038483 3 133495924 [T/C] NM_001063 TF EXON Missense_S635L exm352257 3 133496032 [A/G] NM_001063 TF EXON Missense_G671E exm-rs1830084 3 133508464 [T/A] NM_021203 SRPRB Silent exm352270 3 133525458 [T/C] NM_021203 SRPRB EXON Missense_W54R exm352283 3 133534466 [T/C] NM_021203 SRPRB EXON Missense_F148S exm352284 3 133534472 [A/G] NM_021203 SRPRB EXON Missense_R150Q exm352289 3 133534562 [A/G] NM_021203 SRPRB EXON Missense_N180S exm-rs1534166 3 133537067 [A/G] NM_021203 SRPRB Silent exm352293 3 133538442 [G/C] NM_021203 SRPRB EXON Missense_D216E exm352295 3 133538515 [T/G] NM_021203 SRPRB EXON Missense_V241L exm352296 3 133538548 [A/G] NM_021203 SRPRB EXON Missense_R252G exm352304 3 133547639 [A/G] NM_016577 RAB6B EXON Missense_S207F exm352336 3 133647163 [T/C] NM_025041 C3orf36 EXON Missense_G162E exm352339 3 133647212 [G/C] NM_025041 C3orf36 EXON Missense_P146A exm352351 3 133647437 [T/C] NM_025041 C3orf36 EXON Missense_A71T exm352357 3 133647506 [A/G] NM_025041 C3orf36 EXON Missense_P48S exm352361 3 133647626 [T/C] NM_025041 C3orf36 EXON Missense_E8K exm352366 3 133653573 [A/G] NM_005630 SLCO2A1 EXON Missense_A639V exm352371 3 133653652 [A/G] NM_005630 SLCO2A1 EXON Missense_Y613H exm352376 3 133654649 [T/C] NM_005630 SLCO2A1 EXON Missense_A595T exm352377 3 133654687 [T/C] NM_005630 SLCO2A1 EXON Missense_R582Q exm352382 3 133657306 [A/T] NM_005630 SLCO2A1 EXON Missense_I553F exm352395 3 133661558 [T/A] NM_005630 SLCO2A1 EXON Missense_S506T exm352396 3 133661565 [A/C] NM_005630 SLCO2A1 EXON Missense_K503N exm352397 3 133661576 [T/C] NM_005630 SLCO2A1 EXON Missense_A500T exm352402 3 133664015 [T/C] NM_005630 SLCO2A1 EXON Missense_N462S exm352404 3 133664040 [T/C] NM_005630 SLCO2A1 EXON Missense_I454V exm352406 3 133664067 [A/G] NM_005630 SLCO2A1 EXON Missense_R445C exm352409 3 133664084 [A/G] NM_005630 SLCO2A1 EXON Missense_P439L exm352416 3 133666209 [T/C] NM_005630 SLCO2A1 EXON Missense_A396T exm352418 3 133667409 [A/G] NM_005630 SLCO2A1 EXON Missense_T359I exm352426 3 133667773 [G/C] NM_005630 SLCO2A1 EXON Missense_A302P exm352431 3 133670066 [A/G] NM_005630 SLCO2A1 EXON Missense_P283S exm352441 3 133670170 [A/G] NM_005630 SLCO2A1 EXON Missense_P248L exm352444 3 133672549 [T/C] NM_005630 SLCO2A1 EXON Missense_V228I exm352450 3 133673940 [A/C] NM_005630 SLCO2A1 EXON Missense_E165D exm352452 3 133673951 [G/C] NM_005630 SLCO2A1 EXON Missense_P162A exm352459 3 133692537 [T/C] NM_005630 SLCO2A1 EXON Missense_E123K exm352464 3 133692609 [A/G] NM_005630 SLCO2A1 EXON Missense_R99C exm352471 3 133698324 [T/C] NM_005630 SLCO2A1 Silent exm2238651 3 133698350 [A/G] NM_005630 SLCO2A1 EXON Missense_S70L exm352473 3 133698374 [T/C] NM_005630 SLCO2A1 EXON Missense_R62H exm352478 3 133748570 [A/G] NM_005630 SLCO2A1 EXON Missense_S26L exm352484 3 133877002 [T/C] NM_002958,NM_001005861 RYK,RYK EXON Missense_R606H,Missense_R609H exm352498 3 133894485 [T/C] NM_002958,NM_001005861 RYK,RYK EXON Missense_G514D,Missense_G517D exm352505 3 133901889 [T/C] NM_002958,NM_001005861 RYK,RYK EXON Missense_N376S,Missense_N379S exm352529 3 133928551 [T/C] NM_002958,NM_001005861 RYK,RYK EXON Missense_N192S,Missense_N192S exm352556 3 134077435 [A/G] NM_016201 AMOTL2 EXON Missense_P744L exm352558 3 134077454 [T/C] NM_016201 AMOTL2 EXON Missense_T738A exm352559 3 134077470 [G/C] NM_016201 AMOTL2 EXON Missense_E732D exm352561 3 134077489 [T/C] NM_016201 AMOTL2 EXON Missense_D726G exm352563 3 134078137 [G/C] NM_016201 AMOTL2 EXON Missense_R698G exm352570 3 134078284 [A/G] NM_016201 AMOTL2 EXON Missense_R649C exm352574 3 134079019 [G/C] NM_016201 AMOTL2 EXON Missense_Q604H exm352586 3 134079224 [A/C] NM_016201 AMOTL2 EXON Missense_G536V exm352589 3 134080370 [A/G] NM_016201 AMOTL2 EXON Missense_A520V exm2238657 3 134080619 [T/A] NM_016201 AMOTL2 EXON Missense_L437Q exm352608 3 134084660 [C/G] NM_016201 AMOTL2 EXON Missense_Q426H exm352609 3 134084695 [T/C] NM_016201 AMOTL2 EXON Missense_G415S exm352612 3 134084727 [T/C] NM_016201 AMOTL2 EXON Missense_R404H exm352613 3 134084730 [T/C] NM_016201 AMOTL2 EXON Missense_R403H exm352614 3 134085126 [T/G] NM_016201 AMOTL2 EXON Missense_R395S exm352619 3 134085205 [T/C] NM_016201 AMOTL2 EXON Missense_R369H exm352628 3 134086392 [A/G] NM_016201 AMOTL2 EXON Missense_R330W exm352629 3 134086431 [T/C] NM_016201 AMOTL2 EXON Missense_V317M exm352650 3 134089758 [T/C] NM_016201 AMOTL2 EXON Missense_R173Q exm352655 3 134089834 [A/G] NM_016201 AMOTL2 EXON Missense_R148W exm352688 3 134214206 [A/G] NM_001042384,NM_001042383,NM_001042400,NM_025180 CEP63,CEP63,CEP63,CEP63 EXON Missense_G15E,Missense_G15E,Missense_G15E,Missense_G15E exm352693 3 134226028 [C/G] NM_001042384,NM_001042383,NM_001042400,NM_025180 CEP63,CEP63,CEP63,CEP63 EXON Missense_S41C,Missense_S41C,Missense_S41C,Missense_S41C exm-rs10935120 3 134233092 [A/G] NM_001042384,NM_001042383,NM_001042400,NM_025180 CEP63,CEP63,CEP63,CEP63 Silent,Silent,Silent,Silent exm352710 3 134256004 [A/G] NM_001042384,NM_001042383,NM_001042400,NM_025180 CEP63,CEP63,CEP63,CEP63 EXON Missense_R150H,Missense_R150H,Missense_R150H,Missense_R150H exm2038763 3 134256034 [G/C] NM_001042384,NM_001042383,NM_001042400,NM_025180 CEP63,CEP63,CEP63,CEP63 EXON Missense_R160P,Missense_R160P,Missense_R160P,Missense_R160P exm2038764 3 134256054 [A/G] NM_001042384,NM_001042383,NM_001042400,NM_025180 CEP63,CEP63,CEP63,CEP63 EXON Missense_V167I,Missense_V167I,Missense_V167I,Missense_V167I exm352714 3 134256110 [C/G] NM_001042384,NM_001042383,NM_001042400,NM_025180 CEP63,CEP63,CEP63,CEP63 EXON Missense_Q185H,Missense_Q185H,Missense_Q185H,Missense_Q185H exm352717 3 134264441 [A/G] NM_001042384,NM_001042383,NM_001042400,NM_025180 CEP63,CEP63,CEP63,CEP63 EXON Missense_N190S,Missense_N190S,Missense_N190S,Missense_N190S exm2238660 3 134264444 [A/G] NM_001042384,NM_001042383,NM_001042400,NM_025180 CEP63,CEP63,CEP63,CEP63 EXON Missense_R191Q,Missense_R191Q,Missense_R191Q,Missense_R191Q exm352718 3 134264449 [T/C] NM_001042384,NM_001042383,NM_001042400,NM_025180 CEP63,CEP63,CEP63,CEP63 EXON Nonsense_Q193X,Nonsense_Q193X,Nonsense_Q193X,Nonsense_Q193X exm352722 3 134264540 [A/G] NM_001042384,NM_001042383,NM_001042400,NM_025180 CEP63,CEP63,CEP63,CEP63 EXON Missense_N223S,Missense_N223S,Missense_N223S,Missense_N223S exm352725 3 134265106 [C/G] NM_001042384,NM_001042383,NM_001042400,NM_025180 CEP63,CEP63,CEP63,CEP63 EXON Missense_T302S,Missense_T302S,Missense_T302S,Missense_T302S exm352731 3 134266220 [A/G] NM_001042384,NM_001042383,NM_001042400,NM_025180 CEP63,CEP63,CEP63,CEP63 EXON Silent,Silent,Missense_G325R,Missense_G325R exm352736 3 134267902 [A/G] NM_001042384,NM_001042383,NM_001042400,NM_025180 CEP63,CEP63,CEP63,CEP63 Silent,Silent,Silent,Silent exm352742 3 134267991 [A/C] NM_001042384,NM_001042383,NM_001042400,NM_025180 CEP63,CEP63,CEP63,CEP63 EXON Missense_N339K,Missense_N339K,Missense_N385K,Missense_N385K exm352747 3 134269053 [A/G] NM_001042384,NM_001042383,NM_001042400,NM_025180 CEP63,CEP63,CEP63,CEP63 EXON Missense_R398Q,Missense_R398Q,Missense_R444Q,Missense_R444Q exm352748 3 134269099 [T/G] NM_001042384,NM_001042383,NM_001042400,NM_025180 CEP63,CEP63,CEP63,CEP63 EXON Missense_H413Q,Missense_H413Q,Missense_H459Q,Missense_H459Q exm352753 3 134277024 [T/C] NM_001042384,NM_001042383,NM_001042400,NM_025180 CEP63,CEP63,CEP63,CEP63 EXON Silent,Silent,Silent,Missense_I503T exm2255705 3 134277136 [A/G] NM_001042384,NM_001042383,NM_001042400,NM_025180 CEP63,CEP63,CEP63,CEP63 EXON Silent,Silent,Silent,Synonymous_R540R exm352762 3 134277173 [A/G] NM_001042384,NM_001042383,NM_001042400,NM_025180 CEP63,CEP63,CEP63,CEP63 EXON Silent,Silent,Silent,Missense_K553E exm352770 3 134278117 [C/G] NM_001042384,NM_001042383,NM_001042400,NM_025180 CEP63,CEP63,CEP63,CEP63 EXON Silent,Silent,Silent,Missense_S600T exm352776 3 134278251 [G/C] NM_001042384,NM_001042383,NM_001042400,NM_025180 CEP63,CEP63,CEP63,CEP63 EXON Silent,Silent,Silent,Missense_Q645E exm352777 3 134278270 [T/C] NM_001042384,NM_001042383,NM_001042400,NM_025180 CEP63,CEP63,CEP63,CEP63 EXON Silent,Silent,Silent,Missense_S651L exm352779 3 134280231 [A/G] NM_001042384,NM_001042383,NM_001042400,NM_025180 CEP63,CEP63,CEP63,CEP63 EXON Silent,Missense_V448I,Missense_V494I,Missense_V656I exm352783 3 134280303 [T/C] NM_001042384,NM_001042383,NM_001042400,NM_025180 CEP63,CEP63,CEP63,CEP63 EXON Silent,Missense_R472C,Missense_R518C,Missense_R680C exm352798 3 134322630 [A/G] NM_178554 KY EXON Missense_R593W exm352804 3 134322756 [T/C] NM_178554 KY EXON Missense_V551I exm2255706 3 134322877 [A/G] NM_178554 KY EXON Synonymous_R510R exm352814 3 134322878 [T/C] NM_178554 KY EXON Missense_R510H exm352815 3 134322882 [A/G] NM_178554 KY EXON Missense_R509W exm352837 3 134327503 [A/T] NM_178554 KY EXON Missense_M360L exm352839 3 134327593 [A/G] NM_178554 KY EXON Missense_P330S exm352850 3 134338059 [T/G] NM_178554 KY EXON Missense_P214H exm352856 3 134339626 [A/G] NM_178554 KY EXON Missense_V186A exm352857 3 134339675 [T/C] NM_178554 KY EXON Missense_E170K exm2255707 3 134388550 [A/G] exm352889 3 134514510 [T/C] NM_004441 EPHB1 EXON Missense_S13P exm352890 3 134514525 [A/G] NM_004441 EPHB1 EXON Missense_M18V exm2269669 3 134536972 [T/C] NM_004441 EPHB1 Silent exm352898 3 134670252 [A/G] NM_004441 EPHB1 EXON Missense_I55V exm352915 3 134670765 [A/G] NM_004441 EPHB1 EXON Missense_I226V exm352950 3 134873104 [T/C] NM_004441 EPHB1 EXON Missense_R470W exm352952 3 134880891 [A/G] NM_004441 EPHB1 EXON Missense_R485K exm352954 3 134880927 [T/G] NM_004441 EPHB1 EXON Missense_R497L exm352962 3 134884908 [A/G] NM_004441 EPHB1 EXON Missense_V562I exm2255709 3 134898742 [T/C] NM_004441 EPHB1 EXON Synonymous_Y600Y exm2255710 3 134898754 [T/C] NM_004441 EPHB1 EXON Synonymous_N604N exm352973 3 134911508 [T/C] NM_004441 EPHB1 EXON Missense_S658L exm352981 3 134920337 [A/G] NM_004441 EPHB1 EXON Missense_V718M exm2255711 3 134960118 [T/C] NM_004441 EPHB1 EXON Synonymous_Y825Y exm352996 3 134967350 [A/G] NM_004441 EPHB1 EXON Missense_V897M exm2038881 3 134968200 [T/C] NM_004441 EPHB1 EXON Missense_R905C exm352998 3 134968201 [A/G] NM_004441 EPHB1 EXON Missense_R905H exm353004 3 134977949 [T/C] NM_004441 EPHB1 EXON Missense_T981M exm2255712 3 135288025 [T/C] exm2269532 3 135609010 [T/G] exm2264037 3 135621652 [A/C] exm353007 3 135720404 [T/C] NM_001190447,NM_002718 PPP2R3A,PPP2R3A EXON Silent,Missense_R22W exm353008 3 135720407 [T/C] NM_001190447,NM_002718 PPP2R3A,PPP2R3A EXON Silent,Missense_R23C exm353012 3 135720539 [A/G] NM_001190447,NM_002718 PPP2R3A,PPP2R3A EXON Silent,Missense_D67N exm353013 3 135720540 [A/G] NM_001190447,NM_002718 PPP2R3A,PPP2R3A EXON Silent,Missense_D67G exm353014 3 135720549 [G/C] NM_001190447,NM_002718 PPP2R3A,PPP2R3A EXON Silent,Missense_S70C exm353015 3 135720551 [A/G] NM_001190447,NM_002718 PPP2R3A,PPP2R3A EXON Silent,Missense_M71V exm353017 3 135720572 [A/G] NM_001190447,NM_002718 PPP2R3A,PPP2R3A EXON Silent,Missense_G78R exm353023 3 135720663 [A/G] NM_001190447,NM_002718 PPP2R3A,PPP2R3A EXON Silent,Missense_N108S exm353025 3 135720689 [A/G] NM_001190447,NM_002718 PPP2R3A,PPP2R3A EXON Silent,Missense_I117V exm353031 3 135720851 [T/G] NM_001190447,NM_002718 PPP2R3A,PPP2R3A EXON Silent,Missense_A171S exm353034 3 135720924 [A/C] NM_001190447,NM_002718 PPP2R3A,PPP2R3A EXON Silent,Missense_T195K exm353039 3 135721033 [A/G] NM_001190447,NM_002718 PPP2R3A,PPP2R3A EXON Silent,Missense_M231I exm353041 3 135721057 [G/C] NM_001190447,NM_002718 PPP2R3A,PPP2R3A EXON Silent,Missense_C239W exm353042 3 135721061 [A/G] NM_001190447,NM_002718 PPP2R3A,PPP2R3A EXON Silent,Missense_E241K exm353043 3 135721085 [A/G] NM_001190447,NM_002718 PPP2R3A,PPP2R3A EXON Silent,Missense_I249V exm353044 3 135721120 [T/G] NM_001190447,NM_002718 PPP2R3A,PPP2R3A EXON Silent,Missense_S260R exm353046 3 135721208 [A/G] NM_001190447,NM_002718 PPP2R3A,PPP2R3A EXON Silent,Missense_K290E exm353050 3 135721279 [T/G] NM_001190447,NM_002718 PPP2R3A,PPP2R3A EXON Silent,Missense_N313K exm353062 3 135721469 [T/G] NM_001190447,NM_002718 PPP2R3A,PPP2R3A EXON Silent,Missense_L377V exm353068 3 135721553 [A/C] NM_001190447,NM_002718 PPP2R3A,PPP2R3A EXON Silent,Missense_N405H exm353082 3 135721850 [A/C] NM_001190447,NM_002718 PPP2R3A,PPP2R3A EXON Silent,Missense_S504R exm353084 3 135721903 [G/C] NM_001190447,NM_002718 PPP2R3A,PPP2R3A EXON Silent,Missense_Q521H exm353086 3 135721935 [T/C] NM_001190447,NM_002718 PPP2R3A,PPP2R3A EXON Silent,Missense_A532V exm353091 3 135722030 [A/G] NM_001190447,NM_002718 PPP2R3A,PPP2R3A EXON Silent,Missense_I564V exm353094 3 135722103 [A/G] NM_001190447,NM_002718 PPP2R3A,PPP2R3A EXON Silent,Missense_R588Q exm353100 3 135722241 [A/G] NM_001190447,NM_002718 PPP2R3A,PPP2R3A EXON Silent,Missense_Q634R exm353101 3 135722253 [T/C] NM_001190447,NM_002718 PPP2R3A,PPP2R3A EXON Silent,Missense_S638L exm353102 3 135722264 [A/G] NM_001190447,NM_002718 PPP2R3A,PPP2R3A EXON Silent,Missense_S642G exm353113 3 135745762 [T/C] NM_001190447,NM_002718,NM_181897 PPP2R3A,PPP2R3A,PPP2R3A EXON Silent,Missense_P695L,Missense_P74L exm353117 3 135745810 [A/G] NM_001190447,NM_002718,NM_181897 PPP2R3A,PPP2R3A,PPP2R3A EXON Silent,Missense_R711Q,Missense_R90Q exm353122 3 135745894 [A/T] NM_001190447,NM_002718,NM_181897 PPP2R3A,PPP2R3A,PPP2R3A EXON Missense_I3N,Missense_I739N,Missense_I118N exm353123 3 135745911 [A/G] NM_001190447,NM_002718,NM_181897 PPP2R3A,PPP2R3A,PPP2R3A EXON Missense_D9N,Missense_D745N,Missense_D124N exm353125 3 135759743 [A/G] NM_001190447,NM_002718,NM_181897 PPP2R3A,PPP2R3A,PPP2R3A EXON Missense_A33T,Missense_A769T,Missense_A148T exm353154 3 135820941 [A/G] NM_001190447,NM_002718,NM_181897 PPP2R3A,PPP2R3A,PPP2R3A EXON Missense_R271Q,Missense_R1007Q,Missense_R386Q exm353155 3 135820952 [A/G] NM_001190447,NM_002718,NM_181897 PPP2R3A,PPP2R3A,PPP2R3A EXON Missense_M275V,Missense_M1011V,Missense_M390V exm353161 3 135822151 [A/G] NM_001190447,NM_002718,NM_181897 PPP2R3A,PPP2R3A,PPP2R3A EXON Missense_Y316C,Missense_Y1052C,Missense_Y431C exm353171 3 135825125 [T/A] NM_001190447,NM_002718,NM_181897 PPP2R3A,PPP2R3A,PPP2R3A EXON Missense_L361H,Missense_L1097H,Missense_L476H exm353181 3 135870104 [T/C] NM_018133,NM_001145417 MSL2,MSL2 EXON Missense_S540N,Missense_S466N exm353198 3 135870731 [C/G] NM_018133,NM_001145417 MSL2,MSL2 EXON Missense_A331G,Missense_A257G exm353206 3 135870882 [A/G] NM_018133,NM_001145417 MSL2,MSL2 EXON Missense_S281P,Missense_S207P exm353210 3 135870984 [A/C] NM_018133,NM_001145417 MSL2,MSL2 EXON Missense_C247G,Missense_C173G exm353221 3 135871179 [A/G] NM_018133,NM_001145417 MSL2,MSL2 EXON Missense_L182F,Missense_L108F exm353222 3 135871194 [T/C] NM_018133,NM_001145417 MSL2,MSL2 EXON Missense_M177V,Missense_M103V exm353227 3 135871513 [A/G] NM_018133,NM_001145417 MSL2,MSL2 EXON Synonymous_C70C,Silent exm2255713 3 135871513 [A/G] NM_018133,NM_001145417 MSL2,MSL2 EXON Synonymous_C70C,Silent exm353228 3 135871560 [T/C] NM_018133,NM_001145417 MSL2,MSL2 EXON Missense_I55V,Silent exm2273967 3 135913882 [A/G] NM_018133 MSL2 EXON Missense_P25L exm-rs645040 3 135926622 [T/G] exm-rs511154 3 135950921 [A/G] exm353250 3 135969392 [T/C] NM_001178014,NM_000532 PCCB,PCCB EXON Missense_H59Y,Missense_H59Y exm-rs9844666 3 135974216 [A/G] NM_001178014,NM_000532 PCCB,PCCB Silent,Silent exm353260 3 135975431 [A/G] NM_001178014,NM_000532 PCCB,PCCB EXON Missense_R113Q,Missense_R113Q exm2255715 3 136002681 [A/G] NM_001178014,NM_000532 PCCB,PCCB EXON Synonymous_R202R,Synonymous_R182R exm353265 3 136002681 [A/G] NM_001178014,NM_000532 PCCB,PCCB EXON Synonymous_R202R,Synonymous_R182R exm353270 3 136002748 [A/G] NM_001178014,NM_000532 PCCB,PCCB EXON Missense_V225I,Missense_V205I exm353279 3 136016804 [G/C] NM_001178014,NM_000532 PCCB,PCCB EXON Missense_H278Q,Missense_H258Q exm353280 3 136016834 [T/G] NM_001178014,NM_000532 PCCB,PCCB EXON Missense_L288F,Missense_L268F exm353281 3 136016845 [A/G] NM_001178014,NM_000532 PCCB,PCCB EXON Missense_R292Q,Missense_R272Q exm353282 3 136016892 [A/G] NM_001178014,NM_000532 PCCB,PCCB EXON Missense_V308I,Missense_V288I exm353283 3 136016902 [A/G] NM_001178014,NM_000532 PCCB,PCCB EXON Missense_C311Y,Missense_C291Y exm353287 3 136019898 [T/C] NM_001178014,NM_000532 PCCB,PCCB EXON Missense_T324I,Missense_T304I exm353288 3 136019901 [T/G] NM_001178014,NM_000532 PCCB,PCCB EXON Missense_I325S,Missense_I305S exm353294 3 136045708 [A/G] NM_001178014,NM_000532 PCCB,PCCB EXON Missense_N405S,Missense_N385S exm353311 3 136047622 [A/G] NM_001178014,NM_000532 PCCB,PCCB EXON Missense_K494R,Missense_K474R exm353314 3 136047657 [T/C] NM_001178014,NM_000532 PCCB,PCCB EXON Missense_Y506H,Missense_Y486H exm353317 3 136047691 [T/C] NM_001178014,NM_000532 PCCB,PCCB EXON Missense_A517V,Missense_A497V exm353326 3 136062724 [C/G] NM_005862 STAG1 EXON Missense_Q1132H exm353337 3 136078108 [A/G] NM_005862 STAG1 EXON Missense_P940S exm353403 3 136221470 [T/C] NM_005862 STAG1 EXON Synonymous_E276E exm353414 3 136287658 [T/C] NM_005862 STAG1 EXON Missense_I115V exm2039126 3 136573358 [C/G] NM_001097599,NM_001097600,NM_025246 SLC35G2,SLC35G2,SLC35G2 EXON Missense_P19R,Missense_P19R,Missense_P19R exm353441 3 136573484 [T/G] NM_001097599,NM_001097600,NM_025246 SLC35G2,SLC35G2,SLC35G2 EXON Missense_M61R,Missense_M61R,Missense_M61R exm353452 3 136573671 [G/C] NM_001097599,NM_001097600,NM_025246 SLC35G2,SLC35G2,SLC35G2 EXON Missense_R123S,Missense_R123S,Missense_R123S exm353460 3 136573864 [A/G] NM_001097599,NM_001097600,NM_025246 SLC35G2,SLC35G2,SLC35G2 EXON Missense_I188V,Missense_I188V,Missense_I188V exm353461 3 136573942 [A/G] NM_001097599,NM_001097600,NM_025246 SLC35G2,SLC35G2,SLC35G2 EXON Missense_V214I,Missense_V214I,Missense_V214I exm353463 3 136574049 [T/A] NM_001097599,NM_001097600,NM_025246 SLC35G2,SLC35G2,SLC35G2 EXON Missense_L249F,Missense_L249F,Missense_L249F exm353476 3 136574420 [A/G] NM_001097599,NM_001097600,NM_025246 SLC35G2,SLC35G2,SLC35G2 EXON Missense_Y373C,Missense_Y373C,Missense_Y373C exm353478 3 136574501 [A/G] NM_001097599,NM_001097600,NM_025246 SLC35G2,SLC35G2,SLC35G2 EXON Missense_K400R,Missense_K400R,Missense_K400R exm353484 3 136647028 [A/C] NM_006153 NCK1 EXON Missense_A62D exm353495 3 136664709 [T/C] NM_006153,NM_001190796 NCK1,NCK1 EXON Missense_H171Y,Missense_H107Y exm353496 3 136664737 [T/C] NM_006153,NM_001190796 NCK1,NCK1 EXON Missense_A180V,Missense_A116V exm353497 3 136664745 [A/G] NM_006153,NM_001190796 NCK1,NCK1 EXON Missense_V183I,Missense_V119I exm353498 3 136664749 [A/G] NM_006153,NM_001190796 NCK1,NCK1 EXON Missense_N184S,Missense_N120S exm353509 3 136664970 [C/G] NM_006153,NM_001190796 NCK1,NCK1 EXON Missense_G258R,Missense_G194R exm353513 3 136667116 [A/G] NM_006153,NM_001190796 NCK1,NCK1 EXON Missense_V319I,Missense_V255I exm353528 3 136699398 [A/C] NM_144717 IL20RB EXON Missense_P60H exm353532 3 136701093 [A/G] NM_144717 IL20RB EXON Missense_I103V exm353536 3 136708329 [C/G] NM_144717 IL20RB EXON Missense_H151Q exm2039190 3 136728965 [A/G] NM_144717 IL20RB EXON Missense_N279S exm353553 3 136729021 [A/G] NM_144717 IL20RB EXON Missense_A298T exm-rs1382269 3 137108482 [T/C] exm2269670 3 137130750 [T/C] exm2264009 3 137320213 [A/C] exm-rs10935268 3 137447485 [A/G] exm353572 3 137483889 [A/G] NM_004189 SOX14 EXON Missense_K88R exm353575 3 137483951 [A/G] NM_004189 SOX14 EXON Missense_G109S exm353585 3 137717711 [A/G] NM_001002026 CLDN18 EXON Missense_M1V exm353588 3 137717744 [A/G] NM_001002026 CLDN18 EXON Missense_V12M exm353595 3 137717862 [A/G] NM_001002026 CLDN18 EXON Missense_R51H exm353609 3 137742541 [A/G] NM_001002026,NM_016369 CLDN18,CLDN18 EXON Missense_V88I,Missense_V88I exm353618 3 137743458 [T/C] NM_001002026,NM_016369 CLDN18,CLDN18 EXON Missense_A132V,Missense_A132V exm353619 3 137743460 [A/G] NM_001002026,NM_016369 CLDN18,CLDN18 EXON Missense_I133V,Missense_I133V exm353625 3 137743508 [T/A] NM_001002026,NM_016369 CLDN18,CLDN18 EXON Missense_M149L,Missense_M149L exm353626 3 137743539 [A/G] NM_001002026,NM_016369 CLDN18,CLDN18 EXON Missense_G159D,Missense_G159D exm2039240 3 137781674 [G/C] NM_173543 DZIP1L EXON Missense_R763T exm353650 3 137781678 [A/G] NM_173543 DZIP1L EXON Missense_P762S exm353651 3 137781689 [T/C] NM_173543 DZIP1L EXON Missense_S758N exm353653 3 137781729 [A/G] NM_173543 DZIP1L EXON Missense_R745C exm353666 3 137786442 [T/C] NM_173543 DZIP1L EXON Missense_K645E exm353667 3 137786448 [A/G] NM_173543 DZIP1L EXON Missense_R643W exm353678 3 137786995 [T/C] NM_173543 DZIP1L EXON Missense_M610I exm2039248 3 137787086 [T/C] NM_173543 DZIP1L EXON Missense_H580R exm2039249 3 137787144 [A/C] NM_173543 DZIP1L EXON Missense_A561S exm353695 3 137787192 [T/C] NM_173543 DZIP1L EXON Missense_T545A exm353701 3 137790545 [A/T] NM_173543,NM_001170538 DZIP1L,DZIP1L EXON Nonsense_R519X,Nonsense_R519X exm353702 3 137790559 [T/C] NM_173543,NM_001170538 DZIP1L,DZIP1L EXON Missense_K514R,Missense_K514R exm353705 3 137790602 [A/G] NM_173543,NM_001170538 DZIP1L,DZIP1L EXON Missense_R500W,Missense_R500W exm353709 3 137790616 [T/C] NM_173543,NM_001170538 DZIP1L,DZIP1L EXON Missense_R495Q,Missense_R495Q exm353715 3 137796424 [A/G] NM_173543,NM_001170538 DZIP1L,DZIP1L EXON Missense_R447C,Missense_R447C exm2269534 3 137798155 [T/C] NM_173543,NM_001170538 DZIP1L,DZIP1L Silent,Silent exm353723 3 137799459 [T/A] NM_173543,NM_001170538 DZIP1L,DZIP1L EXON Missense_I413N,Missense_I413N exm353737 3 137807259 [A/G] NM_173543,NM_001170538 DZIP1L,DZIP1L EXON Missense_R321W,Missense_R321W exm353749 3 137811385 [T/C] NM_173543,NM_001170538 DZIP1L,DZIP1L EXON Missense_E237G,Missense_E237G exm353752 3 137813726 [A/G] NM_173543,NM_001170538 DZIP1L,DZIP1L EXON Missense_A229V,Missense_A229V exm353760 3 137816662 [T/C] NM_173543,NM_001170538 DZIP1L,DZIP1L EXON Missense_N177D,Missense_N177D exm353775 3 137822558 [A/C] NM_173543,NM_001170538 DZIP1L,DZIP1L EXON Missense_V86L,Missense_V86L exm353783 3 137822681 [A/G] NM_173543,NM_001170538 DZIP1L,DZIP1L EXON Missense_R45C,Missense_R45C exm353784 3 137822698 [T/C] NM_173543,NM_001170538 DZIP1L,DZIP1L EXON Missense_S39N,Missense_S39N exm353790 3 137822755 [A/G] NM_173543,NM_001170538 DZIP1L,DZIP1L EXON Missense_T20M,Missense_T20M exm353798 3 137843194 [T/C] NM_016161 A4GNT EXON Missense_Y312C exm353800 3 137843246 [T/G] NM_016161 A4GNT EXON Missense_Q295K exm353806 3 137843363 [A/G] NM_016161 A4GNT EXON Missense_H256Y exm353810 3 137843476 [T/G] NM_016161 A4GNT EXON Missense_A218D exm353811 3 137843487 [T/G] NM_016161 A4GNT EXON Missense_H214Q exm353821 3 137849702 [A/G] NM_016161 A4GNT EXON Missense_W133R exm353826 3 137849730 [A/C] NM_016161 A4GNT EXON Missense_R123S exm353837 3 137849888 [T/C] NM_016161 A4GNT EXON Missense_V71I exm353851 3 137880785 [A/C] NM_016216 DBR1 EXON Missense_R527S exm353853 3 137880829 [C/G] NM_016216 DBR1 EXON Missense_L513V exm2039291 3 137880921 [A/G] NM_016216 DBR1 EXON Missense_T482M exm353860 3 137881014 [A/G] NM_016216 DBR1 EXON Missense_S451L exm353861 3 137881029 [T/C] NM_016216 DBR1 EXON Missense_G446D exm353862 3 137881084 [C/G] NM_016216 DBR1 EXON Missense_E428Q exm353868 3 137881236 [A/G] NM_016216 DBR1 EXON Missense_I377T exm353871 3 137881275 [T/C] NM_016216 DBR1 EXON Missense_N364S exm353874 3 137881320 [T/C] NM_016216 DBR1 EXON Missense_D349G exm353879 3 137882285 [T/C] NM_016216 DBR1 EXON Missense_I283V exm353883 3 137882648 [T/C] NM_016216 DBR1 EXON Missense_K256R exm353907 3 137890531 [T/C] NM_016216 DBR1 EXON Missense_R116Q exm353921 3 137893559 [T/C] NM_016216 DBR1 EXON Missense_G27S exm353934 3 137942265 [A/G] NR_049770,NM_015396,NM_014154,NM_213654,NM_001267042,NM_001267041 ARMC8,ARMC8,ARMC8,ARMC8,ARMC8,ARMC8 EXON Silent,Missense_T63A,Missense_T63A,Missense_T63A,Missense_T77A,Missense_T77A exm353950 3 137960673 [G/C] NR_049770,NM_015396,NM_014154,NM_213654,NM_001267042,NM_001267041 ARMC8,ARMC8,ARMC8,ARMC8,ARMC8,ARMC8 EXON Silent,Missense_E282Q,Missense_E282Q,Missense_E282Q,Silent,Missense_E265Q exm353958 3 137981393 [T/C] NR_049770,NM_015396,NM_001267042,NM_001267041,NM_178130 ARMC8,ARMC8,ARMC8,ARMC8,NME9 EXON Silent,Silent,Silent,Silent,Missense_D261N exm353973 3 137982973 [A/G] NR_049770,NM_015396,NM_001267042,NM_001267041,NM_178130 ARMC8,ARMC8,ARMC8,ARMC8,NME9 EXON Silent,Synonymous_R392R,Synonymous_R339R,Synonymous_R375R,Silent exm354006 3 138022481 [A/G] NM_178130 NME9 EXON Nonsense_R205X exm354011 3 138023752 [T/G] NM_178130 NME9 EXON Missense_R191S exm354013 3 138023784 [A/G] NM_178130 NME9 EXON Missense_V180A exm354018 3 138024853 [A/G] NM_178130 NME9 EXON Missense_A149V exm354024 3 138025244 [A/G] NM_178130 NME9 EXON Missense_M119T exm-rs9846480 3 138025396 [A/G] NM_178130 NME9 Silent exm354030 3 138033228 [C/G] NM_178130 NME9 EXON Missense_D75H exm-rs2306374 3 138119952 [T/C] NM_001252091,NM_012219,NM_001085049,NM_001252093,NM_001252092,NM_001252090 MRAS,MRAS,MRAS,MRAS,MRAS,MRAS Silent,Silent,Silent,Silent,Silent,Silent exm-rs9818870 3 138122122 [T/C] NM_001252091,NM_012219,NM_001085049,NM_001252093,NM_001252092,NM_001252090 MRAS,MRAS,MRAS,MRAS,MRAS,MRAS EXON Silent,Silent,Silent,Silent,Silent,Silent exm354072 3 138153666 [C/G] NM_031913 ESYT3 EXON Missense_P9R exm354081 3 138153923 [A/G] NM_031913 ESYT3 EXON Missense_E95K exm2255724 3 138154174 [T/C] NM_031913 ESYT3 Silent exm354099 3 138176414 [T/C] NM_031913 ESYT3 EXON Missense_P170L exm354100 3 138176419 [A/G] NM_031913 ESYT3 EXON Missense_V172I exm354113 3 138178845 [A/G] NM_031913 ESYT3 EXON Missense_G236E exm2039372 3 138179496 [T/C] NM_031913 ESYT3 EXON Missense_A261V exm354122 3 138180965 [A/G] NM_031913 ESYT3 EXON Missense_T278A exm354123 3 138180999 [A/C] NM_031913 ESYT3 EXON Missense_P289H exm354125 3 138183187 [C/G] NM_031913 ESYT3 EXON Missense_G306R exm2255725 3 138183273 [T/C] NM_031913 ESYT3 EXON Synonymous_Y334Y exm354140 3 138186974 [A/G] NM_031913 ESYT3 EXON Missense_G416R exm354144 3 138187016 [A/G] NM_031913 ESYT3 EXON Missense_D430N exm2275701 3 138187527 [A/G] NM_031913 ESYT3 EXON Missense_V447M exm354147 3 138187558 [T/C] NM_031913 ESYT3 EXON Missense_P457L exm354153 3 138188315 [T/C] NM_031913 ESYT3 EXON Missense_L491P exm354155 3 138188336 [A/G] NM_031913 ESYT3 EXON Missense_H498R exm354157 3 138188922 [A/C] NM_031913 ESYT3 EXON Missense_D508E exm2039399 3 138188958 [A/C] NM_031913 ESYT3 EXON Missense_H520Q exm354159 3 138188974 [T/C] NM_031913 ESYT3 EXON Missense_R526W exm354160 3 138188981 [T/A] NM_031913 ESYT3 EXON Missense_H528L exm354161 3 138188988 [A/G] NM_031913 ESYT3 EXON Synonymous_K530K exm354164 3 138189719 [A/G] NM_031913 ESYT3 EXON Missense_V531M exm354167 3 138189810 [A/G] NM_031913 ESYT3 EXON Missense_R561H exm354170 3 138189841 [A/C] NM_031913 ESYT3 EXON Missense_S571R exm354174 3 138191232 [A/G] NM_031913 ESYT3 EXON Missense_G590R exm354181 3 138191347 [T/C] NM_031913 ESYT3 EXON Missense_P628L exm354182 3 138191379 [G/C] NM_031913 ESYT3 EXON Missense_D639H exm354183 3 138191382 [A/G] NM_031913 ESYT3 EXON Missense_V640I exm2039404 3 138191400 [A/G] NM_031913 ESYT3 EXON Missense_T646A exm354184 3 138191410 [T/G] NM_031913 ESYT3 EXON Missense_S649I exm354185 3 138191421 [A/G] NM_031913 ESYT3 EXON Missense_V653I exm354186 3 138191448 [A/T] NM_031913 ESYT3 EXON Missense_T662S exm354195 3 138191614 [T/C] NM_031913 ESYT3 EXON Missense_P717L exm354199 3 138191662 [T/C] NM_031913 ESYT3 EXON Missense_S733F exm354201 3 138191698 [T/C] NM_031913 ESYT3 EXON Missense_I745T exm354205 3 138192395 [A/G] NM_031913 ESYT3 EXON Missense_R752Q exm354209 3 138192424 [C/G] NM_031913 ESYT3 EXON Missense_V762L exm354214 3 138192476 [T/G] NM_031913 ESYT3 EXON Missense_R779I exm354217 3 138193103 [A/G] NM_031913 ESYT3 EXON Missense_V793I exm354221 3 138193163 [T/C] NM_031913 ESYT3 EXON Missense_R813W exm354222 3 138193164 [A/G] NM_031913 ESYT3 EXON Missense_R813Q exm354223 3 138193195 [A/G] NM_031913 ESYT3 Silent exm354244 3 138216947 [A/G] NM_024491 CEP70 EXON Missense_I553T exm354246 3 138218956 [A/G] NM_024491 CEP70 EXON Nonsense_Q550X exm354247 3 138218994 [T/C] NM_024491 CEP70 EXON Missense_N537S exm354249 3 138219066 [T/C] NM_024491 CEP70 EXON Missense_D513G exm354251 3 138219252 [A/T] NM_024491 CEP70 EXON Missense_L509H exm354252 3 138219289 [T/C] NM_024491 CEP70 EXON Missense_G497R exm2039434 3 138219315 [T/C] NM_024491 CEP70 EXON Missense_R488Q exm354256 3 138219391 [A/G] NM_024491 CEP70 EXON Missense_F463L exm354261 3 138219674 [A/T] NM_024491 CEP70 EXON Missense_L424H exm2039440 3 138224152 [T/A] NM_024491 CEP70 EXON Missense_Q402H exm354264 3 138224214 [T/C] NM_024491 CEP70 EXON Missense_D382N exm354267 3 138224274 [G/C] NM_024491 CEP70 EXON Missense_P362A exm354274 3 138244331 [C/G] NM_024491 CEP70 Silent exm354277 3 138244395 [T/C] NM_024491 CEP70 EXON Missense_H294R exm354283 3 138248227 [A/C] NM_024491 CEP70 EXON Missense_G257V exm354292 3 138256033 [A/C] NM_024491 CEP70 EXON Missense_V208F exm2039455 3 138256177 [A/G] NM_024491 CEP70 EXON Missense_H160Y exm354299 3 138289221 [T/C] NM_024491 CEP70 EXON Missense_S135N exm2039457 3 138289315 [A/G] NM_024491 CEP70 EXON Nonsense_R104X exm354315 3 138291735 [T/C] NM_024491 CEP70 EXON Missense_S12N exm354319 3 138329852 [T/C] NM_001033030,NM_001033031,NM_001033032,NM_018147 FAIM,FAIM,FAIM,FAIM EXON Missense_L18S,Silent,Silent,Silent exm354323 3 138340283 [A/G] NM_001033030,NM_001033031,NM_001033032,NM_018147 FAIM,FAIM,FAIM,FAIM EXON Missense_V39I,Missense_V27I,Missense_V5I,Missense_V5I exm354334 3 138341253 [T/G] NM_001033030,NM_001033031,NM_001033032,NM_018147 FAIM,FAIM,FAIM,FAIM EXON Missense_V146G,Missense_V134G,Missense_V112G,Missense_V112G exm354336 3 138347957 [A/G] NM_001033030,NM_001033031,NM_001033032,NM_018147 FAIM,FAIM,FAIM,FAIM EXON Missense_A151T,Missense_A139T,Missense_A117T,Missense_A117T exm354340 3 138347988 [T/C] NM_001033030,NM_001033031,NM_001033032,NM_018147 FAIM,FAIM,FAIM,FAIM EXON Missense_L161S,Missense_L149S,Missense_L127S,Missense_L127S exm354341 3 138347997 [T/C] NM_001033030,NM_001033031,NM_001033032,NM_018147 FAIM,FAIM,FAIM,FAIM EXON Missense_A164V,Missense_A152V,Missense_A130V,Missense_A130V exm2255726 3 138351813 [T/C] NM_001033030,NM_001033031,NM_001033032,NM_018147 FAIM,FAIM,FAIM,FAIM EXON Synonymous_I178I,Synonymous_I166I,Synonymous_I144I,Synonymous_I144I exm354351 3 138351874 [T/C] NM_001033030,NM_001033031,NM_001033032,NM_018147 FAIM,FAIM,FAIM,FAIM EXON Missense_H199Y,Missense_H187Y,Missense_H165Y,Missense_H165Y exm2039485 3 138382857 [A/C] NM_006219,NM_001256045 PIK3CB,PIK3CB EXON Missense_R896L,Missense_R408L exm354387 3 138403632 [T/C] NM_006219,NM_001256045 PIK3CB,PIK3CB EXON Missense_N717S,Missense_N229S exm354437 3 138461426 [T/C] NM_006219 PIK3CB EXON Missense_V199I exm354485 3 138666277 [A/G] NM_001040061 C3orf72 EXON Missense_K24R exm354491 3 138668400 [T/G] NM_001040061 C3orf72 EXON Missense_C47G exm354498 3 138669236 [A/G] NM_001040061 C3orf72 EXON Missense_R117H exm354500 3 138669289 [T/C] NM_001040061 C3orf72 EXON Missense_P135S exm354501 3 138669290 [T/C] NM_001040061 C3orf72 EXON Missense_P135L exm354502 3 138669317 [G/C] NM_001040061 C3orf72 EXON Missense_P144R exm2269671 3 138678130 [T/C] exm-rs1511412 3 138713704 [A/G] exm354528 3 138738833 [T/G] NM_001013650 PRR23B EXON Missense_P224H exm354545 3 138739113 [C/G] NM_001013650 PRR23B EXON Missense_V131L exm2238701 3 138763158 [A/T] NM_001134657 PRR23C EXON Missense_E102V exm-rs1586861 3 139058496 [T/C] exm354589 3 139065755 [T/C] NM_020191 MRPS22 EXON Missense_F70L exm354594 3 139065804 [A/G] NM_020191 MRPS22 EXON Missense_N86S exm354596 3 139065830 [A/C] NM_020191 MRPS22 EXON Missense_I95L exm354616 3 139069133 [T/C] NM_020191 MRPS22 EXON Missense_T206I exm354619 3 139069822 [A/G] NM_020191 MRPS22 EXON Missense_M218V exm354625 3 139071543 [T/C] NM_020191 MRPS22 EXON Missense_R263C exm354627 3 139071624 [C/G] NM_020191 MRPS22 EXON Missense_Q290E exm354633 3 139074583 [T/C] NM_020191 MRPS22 EXON Missense_S313L exm354643 3 139076713 [T/C] NR_023350,NM_004766 COPB2,COPB2 EXON Silent,Missense_D905N exm354679 3 139085592 [A/G] NR_023350,NM_004766 COPB2,COPB2 EXON Silent,Missense_P568S exm354684 3 139086994 [C/G] NR_023350,NM_004766 COPB2,COPB2 EXON Silent,Missense_A513G exm354693 3 139088104 [A/T] NR_023350,NM_004766 COPB2,COPB2 EXON Silent,Missense_H467L exm2039607 3 139092116 [T/C] NR_023350,NM_004766 COPB2,COPB2 EXON Silent,Missense_V345I exm354712 3 139092548 [T/C] NR_023350,NM_004766 COPB2,COPB2 EXON Silent,Missense_N285S exm354719 3 139094380 [T/C] NR_023350,NM_004766 COPB2,COPB2 EXON Silent,Missense_Y194C exm354728 3 139097997 [T/C] NR_023350,NM_004766 COPB2,COPB2 EXON Silent,Missense_V83M exm354740 3 139171980 [T/C] NM_004164 RBP2 EXON Missense_R128H exm2039640 3 139180954 [T/C] NM_004164 RBP2 EXON Synonymous_K84K exm354755 3 139181052 [T/C] NM_004164 RBP2 EXON Missense_T52A exm354757 3 139181129 [A/G] NM_004164 RBP2 EXON Missense_I26T exm354768 3 139237264 [A/G] NM_002899 RBP1 EXON Missense_L180P exm2039661 3 139257654 [T/G] NM_002899,NM_001130993,NM_001130992 RBP1,RBP1,RBP1 EXON Missense_D136A,Missense_D136A,Missense_D136A exm354790 3 139258508 [A/G] NM_002899,NM_001130993,NM_001130992 RBP1,RBP1,RBP1 EXON Missense_P18L,Missense_P18L,Missense_P18L exm354793 3 139279894 [T/C] NM_178177,NM_001200047 NMNAT3,NMNAT3 EXON Nonsense_W202X,Nonsense_W150X exm354795 3 139279910 [A/G] NM_178177,NM_001200047 NMNAT3,NMNAT3 EXON Missense_T197I,Missense_T145I exm2238707 3 139280101 [T/G] NM_178177,NM_001200047 NMNAT3,NMNAT3 EXON Missense_H133Q,Missense_H81Q exm2039668 3 139280159 [A/G] NM_178177,NM_001200047 NMNAT3,NMNAT3 EXON Missense_A114V,Missense_A62V exm354817 3 139292494 [A/G] NM_178177,NM_001200047 NMNAT3,NMNAT3 EXON Missense_P71S,Silent exm354819 3 139297737 [T/C] NM_178177,NM_001200047 NMNAT3,NMNAT3 EXON Nonsense_W53X,Silent exm354829 3 139297832 [T/C] NM_178177,NM_001200047 NMNAT3,NMNAT3 EXON Missense_A22T,Silent exm354832 3 139346467 [A/G] NM_178177,NM_001200047 NMNAT3,NMNAT3 EXON Silent,Missense_H34Y exm-rs4568080 3 139472488 [T/C] exm2255728 3 139570504 [T/C] exm2269672 3 139859628 [T/C] NM_022131 CLSTN2 Silent exm2255729 3 140120742 [T/C] NM_022131 CLSTN2 Silent exm354848 3 140122558 [A/G] NM_022131 CLSTN2 EXON Missense_R107H exm354857 3 140123453 [A/G] NM_022131 CLSTN2 EXON Missense_K161R exm354858 3 140123456 [A/C] NM_022131 CLSTN2 EXON Missense_E162A exm354860 3 140123483 [A/G] NM_022131 CLSTN2 EXON Missense_E171G exm354882 3 140167423 [T/C] NM_022131 CLSTN2 EXON Missense_H284Y exm354884 3 140167433 [T/C] NM_022131 CLSTN2 EXON Missense_T287M exm354889 3 140167490 [A/T] NM_022131 CLSTN2 EXON Missense_I306N exm354892 3 140167508 [A/G] NM_022131 CLSTN2 EXON Missense_R312Q exm-rs11708189 3 140175360 [A/G] NM_022131 CLSTN2 Silent exm354895 3 140178381 [T/C] NM_022131 CLSTN2 EXON Missense_I331T exm354897 3 140178410 [A/G] NM_022131 CLSTN2 EXON Missense_T341A exm354939 3 140275479 [A/G] NM_022131 CLSTN2 EXON Missense_R600H exm354944 3 140277571 [A/G] NM_022131 CLSTN2 EXON Missense_R638Q exm354946 3 140277658 [A/C] NM_022131 CLSTN2 EXON Missense_T667N exm354952 3 140277687 [A/G] NM_022131 CLSTN2 EXON Missense_V677M exm354956 3 140281045 [A/G] NM_022131 CLSTN2 EXON Missense_G703R exm354963 3 140281682 [T/G] NM_022131 CLSTN2 EXON Missense_V748L exm354965 3 140281704 [A/G] NM_022131 CLSTN2 EXON Missense_R755H exm354968 3 140281716 [T/C] NM_022131 CLSTN2 EXON Missense_P759L exm354971 3 140281743 [A/G] NM_022131 CLSTN2 EXON Missense_R768Q exm2039735 3 140282886 [T/C] NM_022131 CLSTN2 EXON Missense_R856W exm354992 3 140284955 [A/G] NM_022131 CLSTN2 EXON Missense_E910K exm2039739 3 140397135 [A/T] NM_152616 TRIM42 EXON Missense_C22S exm355012 3 140397221 [G/C] NM_152616 TRIM42 EXON Missense_C50W exm355016 3 140397361 [A/G] NM_152616 TRIM42 EXON Missense_R97H exm355018 3 140397409 [A/C] NM_152616 TRIM42 EXON Missense_T113N exm355019 3 140397411 [T/A] NM_152616 TRIM42 EXON Missense_S114T exm355020 3 140397413 [A/G] NM_152616 TRIM42 Silent exm355021 3 140401341 [G/C] NM_152616 TRIM42 EXON Missense_Q127E exm355023 3 140401373 [A/C] NM_152616 TRIM42 EXON Missense_N137K exm355026 3 140401420 [T/G] NM_152616 TRIM42 EXON Missense_R153L exm355027 3 140401440 [T/C] NM_152616 TRIM42 EXON Missense_P160S exm355032 3 140401563 [A/G] NM_152616 TRIM42 EXON Missense_N201D exm2039746 3 140401581 [A/G] NM_152616 TRIM42 EXON Missense_E207K exm355038 3 140401693 [A/G] NM_152616 TRIM42 EXON Missense_K244R exm355039 3 140401696 [A/G] NM_152616 TRIM42 EXON Missense_R245H exm355046 3 140401845 [T/C] NM_152616 TRIM42 EXON Missense_S295P exm355053 3 140401999 [T/C] NM_152616 TRIM42 EXON Missense_A346V exm355060 3 140406642 [A/G] NM_152616 TRIM42 EXON Missense_R373Q exm355061 3 140406674 [T/C] NM_152616 TRIM42 EXON Missense_R384C exm355063 3 140406713 [A/C] NM_152616 TRIM42 EXON Missense_Q397K exm355069 3 140406890 [A/G] NM_152616 TRIM42 EXON Missense_G456S exm2238710 3 140406891 [A/G] NM_152616 TRIM42 EXON Missense_G456D exm355072 3 140406947 [A/G] NM_152616 TRIM42 EXON Missense_V475M exm2039755 3 140407014 [T/C] NM_152616 TRIM42 EXON Missense_V497A exm355076 3 140407028 [A/G] NM_152616 TRIM42 EXON Missense_D502N exm355077 3 140407052 [A/G] NM_152616 TRIM42 EXON Missense_V510M exm355079 3 140407106 [A/G] NM_152616 TRIM42 EXON Missense_G528S exm355080 3 140407127 [T/C] NM_152616 TRIM42 EXON Nonsense_R535X exm355088 3 140407217 [A/G] NM_152616 TRIM42 EXON Missense_A565T exm355090 3 140407260 [A/C] NM_152616 TRIM42 EXON Missense_A579E exm355098 3 140409837 [A/G] NM_152616 TRIM42 EXON Missense_V630M exm355104 3 140409898 [T/C] NM_152616 TRIM42 EXON Missense_M650T exm355105 3 140409919 [A/G] NM_152616 TRIM42 EXON Missense_R657Q exm355111 3 140419730 [A/G] NM_152616 TRIM42 EXON Missense_V696M exm355112 3 140419734 [T/C] NM_152616 TRIM42 EXON Missense_V697A exm2269539 3 140455487 [T/C] exm-rs908821 3 140540718 [A/G] exm355128 3 140675500 [A/G] NM_018155,NM_001104647 SLC25A36,SLC25A36 EXON Missense_R58Q,Missense_R58Q exm2039770 3 140675506 [T/C] NM_018155,NM_001104647 SLC25A36,SLC25A36 EXON Missense_V60A,Missense_V60A exm355145 3 140692577 [A/G] NM_018155,NM_001104647 SLC25A36,SLC25A36 EXON Missense_M158V,Missense_M158V exm355146 3 140692599 [A/G] NM_018155,NM_001104647 SLC25A36,SLC25A36 EXON Missense_R165H,Missense_R165H exm2273378 3 140695332 [T/C] NM_018155,NM_001104647 SLC25A36,SLC25A36 EXON Silent,Silent exm2039784 3 140785128 [A/G] NM_080862 SPSB4 EXON Missense_R61H exm2255731 3 140785175 [A/C] NM_080862 SPSB4 EXON Synonymous_R77R exm355186 3 140785473 [T/C] NM_080862 SPSB4 EXON Missense_S176L exm355193 3 140785553 [A/G] NM_080862 SPSB4 EXON Missense_G203S exm2261395 3 140875814 [T/C] exm355212 3 140997252 [A/G] NM_001037172,NM_152282 ACPL2,ACPL2 EXON Missense_D50N,Missense_D50N exm355213 3 140997262 [T/C] NM_001037172,NM_152282 ACPL2,ACPL2 EXON Missense_T53M,Missense_T53M exm355215 3 140997282 [C/G] NM_001037172,NM_152282 ACPL2,ACPL2 EXON Missense_P60A,Missense_P60A exm355216 3 140997285 [A/G] NM_001037172,NM_152282 ACPL2,ACPL2 EXON Missense_V61I,Missense_V61I exm355251 3 141011448 [A/G] NM_001037172,NM_152282 ACPL2,ACPL2 EXON Missense_V282M,Missense_V282M exm355256 3 141011649 [A/G] NM_001037172,NM_152282 ACPL2,ACPL2 EXON Missense_A349T,Missense_A349T exm355258 3 141011680 [A/G] NM_001037172,NM_152282 ACPL2,ACPL2 EXON Missense_R359Q,Missense_R359Q exm355260 3 141011752 [T/C] NM_001037172,NM_152282 ACPL2,ACPL2 EXON Missense_S383L,Missense_S383L exm355264 3 141011859 [A/G] NM_001037172,NM_152282 ACPL2,ACPL2 EXON Missense_V419I,Missense_V419I exm355267 3 141011898 [A/G] NM_001037172,NM_152282 ACPL2,ACPL2 EXON Missense_T432A,Missense_T432A exm355270 3 141011926 [A/G] NM_001037172,NM_152282 ACPL2,ACPL2 EXON Missense_R441H,Missense_R441H exm2255733 3 141011972 [G/C] NM_001037172,NM_152282 ACPL2,ACPL2 EXON Synonymous_V456V,Synonymous_V456V exm-rs724016 3 141105570 [A/G] NM_001080412 ZBTB38 Silent exm-rs16851397 3 141134818 [A/G] NM_001080412 ZBTB38 Silent exm-rs9825379 3 141137035 [A/G] NM_001080412 ZBTB38 Silent exm-rs10513137 3 141143430 [A/G] NM_001080412 ZBTB38 Silent exm355304 3 141162003 [T/C] NM_001080412 ZBTB38 EXON Missense_A258V exm355310 3 141162128 [C/G] NM_001080412 ZBTB38 EXON Missense_P300A exm355313 3 141162179 [T/C] NM_001080412 ZBTB38 EXON Missense_H317Y exm355314 3 141162185 [T/G] NM_001080412 ZBTB38 EXON Missense_S319A exm355316 3 141162218 [A/C] NM_001080412 ZBTB38 EXON Missense_P330T exm355317 3 141162221 [A/G] NM_001080412 ZBTB38 EXON Missense_G331R exm355340 3 141162993 [A/T] NM_001080412 ZBTB38 EXON Missense_N588I exm355343 3 141163074 [T/C] NM_001080412 ZBTB38 EXON Missense_T615M exm355345 3 141163079 [A/G] NM_001080412 ZBTB38 EXON Missense_N617D exm355349 3 141163253 [A/G] NM_001080412 ZBTB38 EXON Missense_V675I exm355350 3 141163362 [T/G] NM_001080412 ZBTB38 EXON Missense_G711V exm355359 3 141163655 [A/G] NM_001080412 ZBTB38 EXON Missense_A809T exm355377 3 141164114 [A/G] NM_001080412 ZBTB38 EXON Missense_V962M exm355378 3 141164123 [C/G] NM_001080412 ZBTB38 EXON Missense_A965P exm355383 3 141164429 [A/G] NM_001080412 ZBTB38 EXON Missense_V1067I exm2273971 3 141272706 [A/G] NM_006506 RASA2 EXON Missense_A179T exm355416 3 141278737 [A/G] NM_006506 RASA2 EXON Missense_I255V exm355437 3 141299222 [A/G] NM_006506 RASA2 EXON Missense_I535V exm355458 3 141326546 [A/G] NM_006506 RASA2 EXON Missense_V654I exm355460 3 141326602 [T/C] NM_006506 RASA2 EXON Synonymous_N672N exm355464 3 141327438 [T/A] NM_006506 RASA2 EXON Missense_Q708H exm355468 3 141327529 [G/C] NM_006506 RASA2 EXON Missense_P739A exm355471 3 141328343 [A/T] NM_006506 RASA2 EXON Missense_L769F exm355472 3 141328725 [T/G] NM_006506 RASA2 EXON Missense_C779F exm-rs868768 3 141377532 [T/C] exm355504 3 141497178 [T/C] NM_139209 GRK7 EXON Nonsense_Q18X exm355510 3 141497319 [A/G] NM_139209 GRK7 EXON Missense_I65V exm355512 3 141497340 [T/G] NM_139209 GRK7 EXON Missense_D72Y exm355515 3 141497368 [A/G] NM_139209 GRK7 EXON Missense_R81H exm355523 3 141497469 [T/A] NM_139209 GRK7 EXON Missense_S115C exm355527 3 141497506 [C/G] NM_139209 GRK7 EXON Missense_S127T exm355529 3 141497527 [A/G] NM_139209 GRK7 EXON Missense_C134Y exm355539 3 141497712 [A/G] NM_139209 GRK7 EXON Missense_V196M exm355540 3 141497713 [T/G] NM_139209 GRK7 EXON Missense_V196G exm355551 3 141499478 [A/G] NM_139209 GRK7 EXON Missense_R292Q exm355554 3 141499528 [G/C] NM_139209 GRK7 EXON Missense_E309Q exm355557 3 141499585 [A/G] NM_139209 GRK7 EXON Missense_G328S exm2261396 3 141519874 [T/C] NM_139209 GRK7 Silent exm355559 3 141526535 [A/G] NM_139209 GRK7 EXON Missense_S367G exm355562 3 141526598 [T/C] NM_139209 GRK7 EXON Nonsense_R388X exm355564 3 141526640 [A/G] NM_139209 GRK7 EXON Missense_D402N exm355565 3 141526667 [A/G] NM_139209 GRK7 EXON Missense_E411K exm355567 3 141535558 [A/G] NM_139209 GRK7 EXON Missense_E443G exm355570 3 141535608 [A/C] NM_139209 GRK7 EXON Missense_P460T exm355585 3 141535875 [A/G] NM_139209 GRK7 EXON Missense_V549M exm2269541 3 141636249 [T/C] NM_001679 ATP1B3 Silent exm355615 3 141644439 [A/G] NM_001679 ATP1B3 EXON Missense_V246I exm355623 3 141671482 [A/G] NM_001178138,NM_001178140,NM_001178139,NM_001178141,NM_001178142,NM_006286 TFDP2,TFDP2,TFDP2,TFDP2,TFDP2,TFDP2 EXON Missense_L345P,Missense_L377P,Missense_L405P,Missense_L308P,Missense_L269P,Missense_L345P exm355626 3 141671856 [T/C] NM_001178138,NM_001178140,NM_001178139,NM_001178141,NM_001178142,NM_006286 TFDP2,TFDP2,TFDP2,TFDP2,TFDP2,TFDP2 EXON Missense_I292V,Missense_I324V,Missense_I352V,Missense_I255V,Missense_I216V,Missense_I292V exm355631 3 141682750 [T/C] NM_001178138,NM_001178140,NM_001178139,NM_001178141,NM_001178142,NM_006286 TFDP2,TFDP2,TFDP2,TFDP2,TFDP2,TFDP2 EXON Missense_Q203R,Missense_Q235R,Missense_Q263R,Missense_Q166R,Missense_Q127R,Missense_Q203R exm355638 3 141692903 [T/C] NM_001178138,NM_001178140,NM_001178139,NM_001178141,NM_001178142,NM_006286 TFDP2,TFDP2,TFDP2,TFDP2,TFDP2,TFDP2 EXON Missense_C157Y,Missense_C189Y,Missense_C217Y,Missense_C120Y,Missense_C81Y,Missense_C157Y exm355656 3 141713929 [A/G] NM_001178138,NM_001178140,NM_001178139,NM_001178141,NM_001178142,NM_006286 TFDP2,TFDP2,TFDP2,TFDP2,TFDP2,TFDP2 EXON Missense_P20S,Missense_P53S,Missense_P81S,Silent,Silent,Missense_P20S exm355657 3 141713932 [T/C] NM_001178138,NM_001178140,NM_001178139,NM_001178141,NM_001178142,NM_006286 TFDP2,TFDP2,TFDP2,TFDP2,TFDP2,TFDP2 EXON Missense_S19G,Missense_S52G,Missense_S80G,Silent,Silent,Missense_S19G exm-rs347685 3 141807137 [A/C] NM_001178138,NM_001178139 TFDP2,TFDP2 Silent,Silent exm2269542 3 141845000 [T/G] NM_001178138,NM_001178139 TFDP2,TFDP2 Silent,Silent exm355725 3 141944186 [A/G] NR_033289,NM_001039547 GK5,GK5 EXON Silent,Missense_R38W exm2040055 3 142030465 [A/G] NM_019001,NM_001042604 XRN1,XRN1 EXON Missense_T1670I,Missense_T1657I exm355740 3 142030520 [T/C] NM_019001,NM_001042604 XRN1,XRN1 EXON Missense_A1652T,Missense_A1639T exm355741 3 142030526 [A/G] NM_019001,NM_001042604 XRN1,XRN1 EXON Missense_S1650P,Missense_S1637P exm355743 3 142030563 [A/C] NM_019001,NM_001042604 XRN1,XRN1 EXON Missense_D1637E,Missense_D1624E exm355751 3 142031589 [G/C] NM_019001,NM_001042604 XRN1,XRN1 EXON Missense_P1557A,Missense_P1544A exm355757 3 142037536 [T/C] NM_019001,NM_001042604 XRN1,XRN1 EXON Missense_G1506S,Missense_G1506S exm355759 3 142037667 [T/C] NM_019001,NM_001042604 XRN1,XRN1 EXON Missense_K1494E,Missense_K1494E exm355760 3 142037703 [T/C] NM_019001,NM_001042604 XRN1,XRN1 EXON Missense_V1482I,Missense_V1482I exm355775 3 142051882 [T/G] NM_019001,NM_001042604 XRN1,XRN1 EXON Missense_E1330A,Missense_E1330A exm355779 3 142066116 [A/T] NM_019001,NM_001042604 XRN1,XRN1 EXON Missense_S1279R,Missense_S1279R exm355780 3 142066120 [T/C] NM_019001,NM_001042604 XRN1,XRN1 EXON Missense_N1278S,Missense_N1278S exm355781 3 142066144 [T/C] NM_019001,NM_001042604 XRN1,XRN1 EXON Missense_H1270R,Missense_H1270R exm355784 3 142074260 [A/G] NM_019001,NM_001042604 XRN1,XRN1 EXON Missense_P1251S,Missense_P1251S exm355789 3 142075896 [T/C] NM_019001,NM_001042604 XRN1,XRN1 EXON Missense_R1177H,Missense_R1177H exm355792 3 142078759 [T/C] NM_019001,NM_001042604 XRN1,XRN1 EXON Missense_D1137N,Missense_D1137N exm355795 3 142084168 [T/G] NM_019001,NM_001042604 XRN1,XRN1 EXON Missense_P1082H,Missense_P1082H exm355825 3 142103365 [T/C] NM_019001,NM_001042604 XRN1,XRN1 EXON Synonymous_K834K,Synonymous_K834K exm2040115 3 142103456 [T/C] NM_019001,NM_001042604 XRN1,XRN1 EXON Missense_R804H,Missense_R804H exm355839 3 142122599 [T/C] NM_019001,NM_001042604 XRN1,XRN1 EXON Missense_S674G,Missense_S674G exm355850 3 142123830 [T/C] NM_019001,NM_001042604 XRN1,XRN1 EXON Missense_C601Y,Missense_C601Y exm355858 3 142133008 [A/G] NM_019001,NM_001042604 XRN1,XRN1 EXON Missense_A521V,Missense_A521V exm355860 3 142133075 [T/G] NM_019001,NM_001042604 XRN1,XRN1 EXON Missense_K499Q,Missense_K499Q exm355861 3 142133080 [A/G] NM_019001,NM_001042604 XRN1,XRN1 EXON Missense_T497I,Missense_T497I exm355876 3 142137451 [T/C] NM_019001,NM_001042604 XRN1,XRN1 EXON Missense_D414G,Missense_D414G exm355890 3 142141436 [A/G] NM_019001,NM_001042604 XRN1,XRN1 EXON Missense_P319S,Missense_P319S exm2040144 3 142141453 [A/G] NM_019001,NM_001042604 XRN1,XRN1 EXON Missense_T313I,Missense_T313I exm355892 3 142141474 [A/G] NM_019001,NM_001042604 XRN1,XRN1 EXON Missense_A306V,Missense_A306V exm355900 3 142141763 [A/C] NM_019001,NM_001042604 XRN1,XRN1 EXON Missense_V238L,Missense_V238L exm355934 3 142178115 [T/C] NM_001184 ATR EXON Missense_I2435V exm355935 3 142178118 [G/C] NM_001184 ATR EXON Missense_P2434A exm355936 3 142178144 [T/C] NM_001184 ATR EXON Missense_R2425Q exm2040180 3 142184013 [T/G] NM_001184 ATR EXON Missense_I2323L exm355956 3 142188337 [A/C] NM_001184 ATR EXON Missense_Y2132D exm355962 3 142203998 [T/C] NM_001184 ATR EXON Missense_V2069I exm355969 3 142212029 [A/C] NM_001184 ATR EXON Missense_R2008L exm355970 3 142212030 [A/G] NM_001184 ATR EXON Nonsense_R2008X exm355972 3 142212065 [A/G] NM_001184 ATR EXON Missense_M1996T exm355998 3 142222235 [T/C] NM_001184 ATR EXON Missense_I1753V exm2255739 3 142226860 [C/G] NM_001184 ATR EXON Synonymous_S1648S exm356015 3 142231119 [T/C] NM_001184 ATR EXON Missense_N1612S exm356016 3 142231134 [T/C] NM_001184 ATR EXON Missense_S1607N exm2040235 3 142231162 [T/C] NM_001184 ATR EXON Missense_A1598T exm356024 3 142232369 [T/C] NM_001184 ATR EXON Missense_G1539S exm356026 3 142232392 [T/C] NM_001184 ATR EXON Missense_H1531R exm356028 3 142232408 [T/C] NM_001184 ATR EXON Missense_I1526V exm356035 3 142234335 [T/C] NM_001184 ATR EXON Missense_T1469A exm356037 3 142238542 [A/G] NM_001184 ATR EXON Missense_R1451W exm356041 3 142241634 [A/G] NM_001184 ATR EXON Missense_T1401I exm356048 3 142253974 [A/T] NM_001184 ATR EXON Missense_D1298V exm356059 3 142257354 [T/G] NM_001184 ATR EXON Missense_A1232D exm356067 3 142261524 [T/C] NM_001184 ATR EXON Missense_I1145V exm356068 3 142261533 [T/C] NM_001184 ATR EXON Missense_S1142G exm356073 3 142266679 [T/C] NM_001184 ATR EXON Missense_R1082H exm356086 3 142269075 [T/C] NM_001184 ATR EXON Missense_V959M exm356088 3 142269099 [T/G] NM_001184 ATR EXON Missense_N951H exm356091 3 142272098 [A/G] NM_001184 ATR EXON Missense_F926L exm356093 3 142272170 [A/G] NM_001184 ATR EXON Missense_S902P exm2255740 3 142272171 [T/G] NM_001184 ATR EXON Synonymous_A901A exm356112 3 142274770 [T/C] NM_001184 ATR EXON Missense_K764E exm356121 3 142274902 [T/C] NM_001184 ATR EXON Missense_G720S exm2040277 3 142275225 [A/G] NM_001184 ATR EXON Missense_I693T exm356129 3 142275399 [T/C] NM_001184 ATR EXON Missense_R635Q exm356144 3 142278201 [T/C] NM_001184 ATR EXON Missense_K542E exm356154 3 142280106 [G/C] NM_001184 ATR EXON Missense_R443T exm356166 3 142281252 [T/C] NM_001184 ATR EXON Missense_D331G exm356167 3 142281298 [T/C] NM_001184 ATR EXON Missense_V316I exm356169 3 142281353 [G/C] NM_001184 ATR EXON Missense_K297N exm356178 3 142281612 [A/G] NM_001184 ATR EXON Missense_M211T exm356186 3 142281919 [A/G] NM_001184 ATR EXON Missense_R109W exm356189 3 142284987 [A/G] NM_001184 ATR EXON Missense_H90Y exm2238739 3 142285065 [T/C] NM_001184 ATR EXON Missense_T64A exm356198 3 142297533 [A/C] NM_001184 ATR EXON Missense_G5V exm356217 3 142389963 [A/G] NM_001145319,NM_002670,NM_001172312 PLS1,PLS1,PLS1 EXON Synonymous_S121S,Synonymous_S121S,Synonymous_S121S exm356219 3 142395072 [A/G] NM_001145319,NM_002670,NM_001172312 PLS1,PLS1,PLS1 EXON Missense_I146M,Missense_I146M,Missense_I146M exm356226 3 142402915 [T/C] NM_001145319,NM_002670,NM_001172312 PLS1,PLS1,PLS1 EXON Missense_S216L,Missense_S216L,Missense_S216L exm356229 3 142402975 [T/C] NM_001145319,NM_002670,NM_001172312 PLS1,PLS1,PLS1 EXON Missense_V236A,Missense_V236A,Missense_V236A exm356230 3 142403001 [T/C] NM_001145319,NM_002670,NM_001172312 PLS1,PLS1,PLS1 EXON Missense_S245P,Missense_S245P,Missense_S245P exm356232 3 142403119 [A/G] NM_001145319,NM_002670,NM_001172312 PLS1,PLS1,PLS1 EXON Missense_G257D,Missense_G257D,Missense_G257D exm2275704 3 142405201 [A/G] NM_001145319,NM_002670,NM_001172312 PLS1,PLS1,PLS1 EXON Missense_D322N,Missense_D322N,Missense_D322N exm356251 3 142408502 [A/G] NM_001145319,NM_002670,NM_001172312 PLS1,PLS1,PLS1 EXON Missense_A342T,Missense_A342T,Missense_A342T exm356252 3 142408506 [T/A] NM_001145319,NM_002670,NM_001172312 PLS1,PLS1,PLS1 EXON Missense_D343V,Missense_D343V,Missense_D343V exm2255741 3 142408606 [A/G] NM_001145319,NM_002670,NM_001172312 PLS1,PLS1,PLS1 EXON Synonymous_P376P,Synonymous_P376P,Synonymous_P376P exm356258 3 142413338 [A/G] NM_001145319,NM_002670,NM_001172312 PLS1,PLS1,PLS1 EXON Missense_R402Q,Missense_R402Q,Missense_R402Q exm356266 3 142423375 [A/G] NM_001145319,NM_002670,NM_001172312 PLS1,PLS1,PLS1 EXON Missense_V526I,Missense_V526I,Missense_V526I exm356273 3 142430733 [T/C] NM_001145319,NM_002670,NM_001172312 PLS1,PLS1,PLS1 EXON Nonsense_R592X,Nonsense_R592X,Nonsense_R592X exm356281 3 142430803 [T/C] NM_001145319,NM_002670,NM_001172312 PLS1,PLS1,PLS1 EXON Missense_T615M,Missense_T615M,Missense_T615M exm-rs3773506 3 142431000 [G/C] NM_001145319,NM_002670,NM_001172312 PLS1,PLS1,PLS1 EXON Silent,Silent,Silent exm356291 3 142443450 [A/T] NM_001251845,NM_003304 TRPC1,TRPC1 EXON Missense_S17T,Missense_S17T exm2255742 3 142467270 [A/C] NM_001251845,NM_003304 TRPC1,TRPC1 EXON Synonymous_A200A,Synonymous_A166A exm356307 3 142467278 [A/G] NM_001251845,NM_003304 TRPC1,TRPC1 EXON Missense_K203R,Missense_K169R exm356311 3 142496489 [A/G] NM_001251845,NM_003304 TRPC1,TRPC1 EXON Missense_I216M,Missense_I182M exm2040355 3 142496541 [A/G] NM_001251845,NM_003304 TRPC1,TRPC1 EXON Missense_I234V,Missense_I200V exm2255743 3 142503806 [T/C] NM_001251845,NM_003304 TRPC1,TRPC1 EXON Synonymous_V407V,Synonymous_V373V exm356366 3 142537215 [A/G] NM_013363 PCOLCE2 EXON Nonsense_Q404X exm356370 3 142537266 [A/G] NM_013363 PCOLCE2 EXON Nonsense_R387X exm356374 3 142539831 [T/C] NM_013363 PCOLCE2 EXON Missense_V336I exm356376 3 142539854 [T/C] NM_013363 PCOLCE2 EXON Missense_R328H exm356380 3 142542415 [T/C] NM_013363 PCOLCE2 EXON Missense_R303Q exm356383 3 142542449 [T/G] NM_013363 PCOLCE2 EXON Missense_P292T exm2255744 3 142547417 [T/C] NM_013363 PCOLCE2 Silent exm356385 3 142548560 [A/G] NM_013363 PCOLCE2 EXON Missense_V280A exm356386 3 142548566 [T/C] NM_013363 PCOLCE2 EXON Missense_Q278R exm356390 3 142548681 [T/C] NM_013363 PCOLCE2 EXON Missense_V240M exm356393 3 142557667 [T/C] NM_013363 PCOLCE2 EXON Missense_G219R exm356397 3 142557712 [A/G] NM_013363 PCOLCE2 EXON Nonsense_R204X exm356407 3 142567175 [T/C] NM_013363 PCOLCE2 EXON Missense_R111Q exm356410 3 142567193 [T/C] NM_013363 PCOLCE2 EXON Missense_R105H exm356412 3 142567203 [A/G] NM_013363 PCOLCE2 EXON Missense_R102C exm356416 3 142567275 [A/T] NM_013363 PCOLCE2 EXON Missense_I78L exm2261397 3 142653680 [A/G] NR_038455 LOC100507389 Silent exm356439 3 142681233 [T/C] NM_198504 PAQR9 EXON Missense_I316V exm356450 3 142681466 [T/C] NM_198504 PAQR9 EXON Missense_Y238C exm356489 3 142731103 [T/C] NM_001080415 U2SURP EXON Missense_R44W exm356500 3 142740197 [A/G] NM_001080415 U2SURP EXON Missense_A247T exm2273972 3 142753741 [A/G] NM_001080415 U2SURP EXON Missense_K622R exm2273379 3 142775315 [T/A] NM_001080415 U2SURP EXON Silent exm356569 3 142840139 [C/G] NM_004267 CHST2 EXON Missense_G161R exm356586 3 142840518 [T/G] NM_004267 CHST2 EXON Missense_R287L exm2238745 3 142840524 [T/C] NM_004267 CHST2 EXON Missense_A289V exm356596 3 142840775 [A/G] NM_004267 CHST2 EXON Missense_G373S exm356599 3 142840802 [A/G] NM_004267 CHST2 EXON Missense_G382S exm-rs9810857 3 142982899 [A/G] exm356641 3 142985674 [T/G] NM_173653 SLC9A9 EXON Missense_A603E exm356644 3 142985717 [T/C] NM_173653 SLC9A9 EXON Missense_I589V exm356653 3 142987760 [T/C] NM_173653 SLC9A9 EXON Missense_C556Y exm356656 3 142987809 [T/C] NM_173653 SLC9A9 EXON Missense_I540V exm-rs7632299 3 143056467 [A/G] NM_173653 SLC9A9 Silent exm356661 3 143082401 [A/G] NM_173653 SLC9A9 EXON Missense_A510V exm356664 3 143100940 [T/C] NM_173653 SLC9A9 EXON Missense_D496N exm2238747 3 143185993 [T/C] NM_173653 SLC9A9 EXON Missense_N452S exm2255745 3 143200129 [T/C] NM_173653 SLC9A9 Silent exm356680 3 143212543 [A/G] NM_173653 SLC9A9 EXON Nonsense_R423X exm356682 3 143214181 [C/G] NM_173653 SLC9A9 EXON Missense_A400G exm356683 3 143214209 [T/C] NM_173653 SLC9A9 EXON Missense_I391V exm356688 3 143214257 [T/C] NM_173653 SLC9A9 EXON Missense_V375I exm-rs1371924 3 143250070 [T/C] NM_173653 SLC9A9 Silent exm2255746 3 143360568 [A/C] NM_173653 SLC9A9 Silent exm356717 3 143371145 [A/G] NM_173653 SLC9A9 EXON Missense_L236S exm356721 3 143371201 [T/C] NM_173653 SLC9A9 EXON Synonymous_V217V exm-rs2800 3 143424822 [T/C] NM_173653 SLC9A9 Silent exm356759 3 143513885 [A/G] NM_173653 SLC9A9 EXON Missense_T164M exm356764 3 143550956 [T/C] NM_173653 SLC9A9 EXON Missense_V95I exm356770 3 143566991 [A/G] NM_173653 SLC9A9 EXON Synonymous_Y58Y exm2264038 3 143570871 [A/C] exm2238749 3 143704602 [A/G] NM_173552,NM_001134470 C3orf58,C3orf58 EXON Missense_N292S,Missense_N83S exm356813 3 143708358 [G/C] NM_173552,NM_001134470 C3orf58,C3orf58 EXON Missense_P323R,Missense_P114R exm356821 3 143708561 [A/G] NM_173552,NM_001134470 C3orf58,C3orf58 EXON Missense_K391E,Missense_K182E exm356822 3 143708601 [A/T] NM_173552,NM_001134470 C3orf58,C3orf58 EXON Missense_N404I,Missense_N195I exm2269545 3 143969565 [T/C] exm-rs800082 3 144340205 [T/C] exm2265625 3 144436001 [A/G] exm2255749 3 144579406 [T/G] exm-rs345013 3 145173788 [A/G] exm2269547 3 145238164 [T/C] exm2265626 3 145685722 [A/G] exm356831 3 145788840 [T/C] NM_000935,NM_182943 PLOD2,PLOD2 EXON Missense_E683K,Missense_E704K exm356838 3 145789104 [A/G] NM_000935,NM_182943 PLOD2,PLOD2 EXON Missense_A631V,Missense_A652V exm2255751 3 145790803 [T/G] NM_000935,NM_182943 PLOD2,PLOD2 Silent,Silent exm356848 3 145794607 [A/G] NM_000935,NM_182943 PLOD2,PLOD2 EXON Missense_Y526H,Missense_Y547H exm356861 3 145796952 [T/C] NM_000935,NM_182943 PLOD2,PLOD2 EXON Missense_R484H,Missense_R484H exm356877 3 145803060 [T/C] NM_000935,NM_182943 PLOD2,PLOD2 EXON Missense_M376I,Missense_M376I exm356882 3 145804575 [T/G] NM_000935,NM_182943 PLOD2,PLOD2 EXON Missense_M376L,Missense_M376L exm356884 3 145804593 [T/C] NM_000935,NM_182943 PLOD2,PLOD2 EXON Missense_E370K,Missense_E370K exm2040635 3 145806407 [A/G] NM_000935,NM_182943 PLOD2,PLOD2 EXON Missense_P324L,Missense_P324L exm356896 3 145809622 [A/G] NM_000935,NM_182943 PLOD2,PLOD2 EXON Missense_C282R,Missense_C282R exm356898 3 145809661 [T/C] NM_000935,NM_182943 PLOD2,PLOD2 EXON Missense_V269I,Missense_V269I exm356903 3 145822093 [T/C] NM_000935,NM_182943 PLOD2,PLOD2 EXON Missense_I218V,Missense_I218V exm356905 3 145824347 [A/G] NM_000935,NM_182943 PLOD2,PLOD2 EXON Missense_T196I,Missense_T196I exm356908 3 145824401 [T/C] NM_000935,NM_182943 PLOD2,PLOD2 EXON Missense_R178H,Missense_R178H exm356910 3 145824404 [T/C] NM_000935,NM_182943 PLOD2,PLOD2 EXON Missense_N177S,Missense_N177S exm356913 3 145828077 [G/C] NM_000935,NM_182943 PLOD2,PLOD2 EXON Nonsense_S166X,Nonsense_S166X exm356919 3 145828192 [T/C] NM_000935,NM_182943 PLOD2,PLOD2 EXON Missense_K128E,Missense_K128E exm356934 3 145841947 [T/C] NM_000935,NM_182943 PLOD2,PLOD2 EXON Missense_K60R,Missense_K60R exm356949 3 145912919 [A/G] NM_020353,NM_001128304,NM_001177304,NM_001128306,NM_001128305 PLSCR4,PLSCR4,PLSCR4,PLSCR4,PLSCR4 EXON Missense_F313L,Missense_F313L,Missense_F208L,Missense_F223L,Missense_F313L exm356957 3 145913015 [G/C] NM_020353,NM_001128304,NM_001177304,NM_001128306,NM_001128305 PLSCR4,PLSCR4,PLSCR4,PLSCR4,PLSCR4 EXON Missense_G281R,Missense_G281R,Missense_G176R,Missense_G191R,Missense_G281R exm356958 3 145913039 [T/C] NM_020353,NM_001128304,NM_001177304,NM_001128306,NM_001128305 PLSCR4,PLSCR4,PLSCR4,PLSCR4,PLSCR4 EXON Missense_G273S,Missense_G273S,Missense_G168S,Missense_G183S,Missense_G273S exm356962 3 145913069 [T/C] NM_020353,NM_001128304,NM_001177304,NM_001128306,NM_001128305 PLSCR4,PLSCR4,PLSCR4,PLSCR4,PLSCR4 EXON Missense_V263I,Missense_V263I,Missense_V158I,Missense_V173I,Missense_V263I exm356969 3 145914490 [T/C] NM_020353,NM_001128304,NM_001177304,NM_001128306,NM_001128305 PLSCR4,PLSCR4,PLSCR4,PLSCR4,PLSCR4 EXON Missense_K239E,Missense_K239E,Missense_K134E,Missense_K149E,Missense_K239E exm356977 3 145917599 [T/C] NM_020353,NM_001128304,NM_001177304,NM_001128306,NM_001128305 PLSCR4,PLSCR4,PLSCR4,PLSCR4,PLSCR4 Silent,Silent,Silent,Silent,Silent exm356980 3 145917673 [T/C] NM_020353,NM_001128304,NM_001177304,NM_001128306,NM_001128305 PLSCR4,PLSCR4,PLSCR4,PLSCR4,PLSCR4 EXON Missense_R184Q,Missense_R184Q,Silent,Silent,Missense_R184Q exm356986 3 145917761 [T/C] NM_020353,NM_001128304,NM_001177304,NM_001128306,NM_001128305 PLSCR4,PLSCR4,PLSCR4,PLSCR4,PLSCR4 EXON Missense_I155V,Missense_I155V,Silent,Silent,Missense_I155V exm356987 3 145917769 [A/G] NM_020353,NM_001128304,NM_001177304,NM_001128306,NM_001128305 PLSCR4,PLSCR4,PLSCR4,PLSCR4,PLSCR4 EXON Missense_M152T,Missense_M152T,Silent,Silent,Missense_M152T exm356988 3 145917773 [T/G] NM_020353,NM_001128304,NM_001177304,NM_001128306,NM_001128305 PLSCR4,PLSCR4,PLSCR4,PLSCR4,PLSCR4 EXON Missense_Q151K,Missense_Q151K,Silent,Silent,Missense_Q151K exm356992 3 145924348 [A/C] NM_020353,NM_001128304,NM_001177304,NM_001128306,NM_001128305 PLSCR4,PLSCR4,PLSCR4,PLSCR4,PLSCR4 EXON Missense_A107S,Missense_A107S,Missense_A92S,Missense_A107S,Missense_A107S exm356995 3 145924422 [A/C] NM_020353,NM_001128304,NM_001177304,NM_001128306,NM_001128305 PLSCR4,PLSCR4,PLSCR4,PLSCR4,PLSCR4 EXON Missense_R82L,Missense_R82L,Missense_R67L,Missense_R82L,Missense_R82L exm356996 3 145924423 [A/G] NM_020353,NM_001128304,NM_001177304,NM_001128306,NM_001128305 PLSCR4,PLSCR4,PLSCR4,PLSCR4,PLSCR4 EXON Missense_R82W,Missense_R82W,Missense_R67W,Missense_R82W,Missense_R82W exm356998 3 145924454 [A/C] NM_020353,NM_001128304,NM_001177304,NM_001128306,NM_001128305 PLSCR4,PLSCR4,PLSCR4,PLSCR4,PLSCR4 EXON Missense_L71F,Missense_L71F,Missense_L56F,Missense_L71F,Missense_L71F exm357000 3 145924511 [T/G] NM_020353,NM_001128304,NM_001177304,NM_001128306,NM_001128305 PLSCR4,PLSCR4,PLSCR4,PLSCR4,PLSCR4 EXON Nonsense_Y52X,Nonsense_Y52X,Nonsense_Y37X,Nonsense_Y52X,Nonsense_Y52X exm357004 3 145938619 [T/C] NM_020353,NM_001128304,NM_001177304,NM_001128306,NM_001128305 PLSCR4,PLSCR4,PLSCR4,PLSCR4,PLSCR4 EXON Missense_N34S,Missense_N34S,Missense_N19S,Missense_N34S,Missense_N34S exm357007 3 145939852 [A/C] NM_020353,NM_001128304,NM_001177304,NM_001128306,NM_001128305 PLSCR4,PLSCR4,PLSCR4,PLSCR4,PLSCR4 EXON Missense_G3C,Missense_G3C,Silent,Missense_G3C,Missense_G3C exm357008 3 145939856 [G/C] NM_020353,NM_001128304,NM_001177304,NM_001128306,NM_001128305 PLSCR4,PLSCR4,PLSCR4,PLSCR4,PLSCR4 EXON Missense_M1I,Missense_M1I,Silent,Missense_M1I,Missense_M1I exm357009 3 145939878 [T/C] NM_020353,NM_001128304,NM_001177304,NM_001128306,NM_001128305 PLSCR4,PLSCR4,PLSCR4,PLSCR4,PLSCR4 EXON Silent,Silent,Silent,Silent,Silent exm2269675 3 145955736 [T/C] NM_020353,NM_001128304,NM_001177304,NM_001128306,NM_001128305 PLSCR4,PLSCR4,PLSCR4,PLSCR4,PLSCR4 Silent,Silent,Silent,Silent,Silent exm357015 3 146167019 [T/C] NM_001199978,NM_001199979 PLSCR2,PLSCR2 EXON Missense_V280M,Missense_V276M exm357018 3 146167089 [T/A] NM_001199978,NM_001199979 PLSCR2,PLSCR2 EXON Missense_R256S,Missense_R252S exm357028 3 146171883 [C/G] NM_001199978,NM_001199979 PLSCR2,PLSCR2 EXON Missense_T203R,Missense_T199R exm357033 3 146173135 [T/C] NM_001199978,NM_001199979 PLSCR2,PLSCR2 EXON Missense_R144Q,Missense_R140Q exm357035 3 146173150 [T/C] NM_001199978,NM_001199979 PLSCR2,PLSCR2 EXON Missense_R139Q,Missense_R135Q exm357036 3 146173151 [A/G] NM_001199978,NM_001199979 PLSCR2,PLSCR2 EXON Nonsense_R139X,Nonsense_R135X exm357040 3 146173245 [A/G] NM_001199978,NM_001199979 PLSCR2,PLSCR2 EXON Synonymous_V107V,Synonymous_V103V exm357041 3 146173246 [A/C] NM_001199978,NM_001199979 PLSCR2,PLSCR2 EXON Missense_V107G,Missense_V103G exm357045 3 146176241 [G/C] NM_001199978,NM_001199979 PLSCR2,PLSCR2 Silent,Silent exm2255752 3 146186189 [T/G] NM_001199978,NM_001199979 PLSCR2,PLSCR2 Silent,Silent exm357054 3 146234909 [A/G] NM_021105 PLSCR1 EXON Missense_H262Y exm357071 3 146246559 [T/C] NM_021105 PLSCR1 EXON Missense_G52S exm357074 3 146246567 [C/G] NM_021105 PLSCR1 EXON Missense_P49R exm357077 3 146246596 [T/G] NM_021105 PLSCR1 EXON Nonsense_Y39X exm357079 3 146251266 [T/C] NM_021105 PLSCR1 EXON Missense_A29T exm357081 3 146251292 [A/C] NM_021105 PLSCR1 EXON Missense_G20V exm357082 3 146251299 [T/G] NM_021105 PLSCR1 EXON Missense_P18T exm357092 3 146307460 [T/C] NM_001085420 PLSCR5 EXON Missense_I253V exm357100 3 146307586 [G/C] NM_001085420 PLSCR5 EXON Missense_E211Q exm357111 3 146311832 [T/G] NM_001085420 PLSCR5 EXON Missense_R110S exm357120 3 146318211 [A/G] NM_001085420 PLSCR5 EXON Missense_P18L exm357123 3 146322998 [A/G] NM_001085420 PLSCR5 EXON Missense_M1T exm2269550 3 146874012 [T/C] exm2269676 3 147105790 [T/C] NR_040762,NM_001168378,NM_001243256,NR_033118,NM_001168379,NR_033119,NM_032153 ZIC4,ZIC4,ZIC4,ZIC4,ZIC4,ZIC4,ZIC4 EXON Silent,Missense_T671A,Missense_T415A,Silent,Missense_T659A,Silent,Missense_T621A exm357132 3 147108757 [A/G] NR_040762,NM_001168378,NM_001243256,NR_033118,NM_001168379,NR_033119,NM_032153 ZIC4,ZIC4,ZIC4,ZIC4,ZIC4,ZIC4,ZIC4 EXON Silent,Missense_S372L,Missense_S116L,Silent,Missense_S360L,Silent,Missense_S322L exm357139 3 147109032 [T/G] NR_040762,NM_001168378,NM_001243256,NR_033118,NM_001168379,NR_033119,NM_032153 ZIC4,ZIC4,ZIC4,ZIC4,ZIC4,ZIC4,ZIC4 EXON Silent,Synonymous_G280G,Missense_S24R,Silent,Synonymous_G268G,Silent,Synonymous_G230G exm357145 3 147113821 [C/G] NM_001168378,NM_001243256,NM_001168379,NM_032153 ZIC4,ZIC4,ZIC4,ZIC4 EXON Missense_A219G,Silent,Missense_A207G,Missense_A169G exm357146 3 147113834 [T/C] NM_001168378,NM_001243256,NM_001168379,NM_032153 ZIC4,ZIC4,ZIC4,ZIC4 EXON Missense_G215S,Silent,Missense_G203S,Missense_G165S exm357167 3 147114253 [T/C] NM_001168378,NM_001243256,NM_001168379,NM_032153 ZIC4,ZIC4,ZIC4,ZIC4 EXON Missense_S75N,Silent,Missense_S63N,Missense_S25N exm357169 3 147120535 [T/C] NM_001168378,NM_001243256,NM_001168379,NM_032153 ZIC4,ZIC4,ZIC4,ZIC4 EXON Missense_R67Q,Missense_R17Q,Missense_R55Q,Missense_R17Q exm357171 3 147120551 [A/G] NM_001168378,NM_001243256,NM_001168379,NM_032153 ZIC4,ZIC4,ZIC4,ZIC4 EXON Nonsense_R62X,Nonsense_R12X,Nonsense_R50X,Nonsense_R12X exm357173 3 147121751 [T/C] NM_001168378,NM_001243256,NM_001168379,NM_032153 ZIC4,ZIC4,ZIC4,ZIC4 EXON Synonymous_K45K,Silent,Silent,Silent exm357189 3 147128227 [C/G] NM_003412 ZIC1 EXON Missense_A110P exm2255755 3 147128352 [C/G] NM_003412 ZIC1 EXON Synonymous_A151A exm2255756 3 147359950 [T/G] exm-rs1841770 3 147756686 [T/G] exm2265508 3 147959286 [A/G] exm2269677 3 148170986 [T/C] exm357224 3 148458977 [T/G] NM_031850,NM_009585,NM_004835,NM_000685,NM_032049 AGTR1,AGTR1,AGTR1,AGTR1,AGTR1 EXON Missense_V87G,Missense_V52G,Missense_V87G,Missense_V52G,Missense_V81G exm357225 3 148459015 [A/G] NM_031850,NM_009585,NM_004835,NM_000685,NM_032049 AGTR1,AGTR1,AGTR1,AGTR1,AGTR1 EXON Missense_V100I,Missense_V65I,Missense_V100I,Missense_V65I,Missense_V94I exm357232 3 148459130 [T/C] NM_031850,NM_009585,NM_004835,NM_000685,NM_032049 AGTR1,AGTR1,AGTR1,AGTR1,AGTR1 EXON Missense_I138T,Missense_I103T,Missense_I138T,Missense_I103T,Missense_I132T exm357240 3 148459519 [A/C] NM_031850,NM_009585,NM_004835,NM_000685,NM_032049 AGTR1,AGTR1,AGTR1,AGTR1,AGTR1 EXON Missense_P268T,Missense_P233T,Missense_P268T,Missense_P233T,Missense_P262T exm357242 3 148459552 [T/G] NM_031850,NM_009585,NM_004835,NM_000685,NM_032049 AGTR1,AGTR1,AGTR1,AGTR1,AGTR1 EXON Missense_A279S,Missense_A244S,Missense_A279S,Missense_A244S,Missense_A273S exm2265627 3 148460700 [A/G] NM_031850,NM_009585,NM_004835,NM_000685,NM_032049 AGTR1,AGTR1,AGTR1,AGTR1,AGTR1 EXON Silent,Silent,Silent,Silent,Silent exm357265 3 148545841 [T/C] NM_001871 CPB1 EXON Missense_R42C exm357266 3 148545857 [T/C] NM_001871 CPB1 EXON Missense_T47M exm357270 3 148552330 [A/G] NM_001871 CPB1 EXON Missense_S65G exm357272 3 148552345 [T/C] NM_001871 CPB1 EXON Missense_R70C exm2040847 3 148558505 [A/C] NM_001871 CPB1 EXON Missense_E102A exm357276 3 148558559 [A/G] NM_001871 CPB1 EXON Missense_N120S exm357282 3 148558724 [A/G] NM_001871 CPB1 EXON Missense_G146R exm357284 3 148559651 [A/C] NM_001871 CPB1 EXON Missense_D172E exm357287 3 148562272 [A/G] NM_001871 CPB1 EXON Missense_R195H exm357290 3 148562310 [A/G] NM_001871 CPB1 EXON Missense_D208N exm357294 3 148562470 [T/C] NM_001871 CPB1 EXON Missense_F232L exm357304 3 148563261 [A/G] NM_001871 CPB1 EXON Missense_A277T exm357311 3 148575278 [T/C] NM_001871 CPB1 EXON Missense_A339V exm357313 3 148575299 [A/T] NM_001871 CPB1 EXON Missense_Y346F exm357317 3 148577625 [T/G] NM_001871 CPB1 EXON Missense_D364Y exm357318 3 148577674 [A/G] NM_001871 CPB1 EXON Missense_R380Q exm357319 3 148577717 [C/G] NM_001871 CPB1 EXON Missense_I394M exm357322 3 148577730 [A/G] NM_001871 CPB1 EXON Missense_E399K exm357323 3 148577742 [G/C] NM_001871 CPB1 EXON Missense_L403V exm357324 3 148583113 [A/G] NM_001870 CPA3 EXON Missense_V7M exm357327 3 148583153 [T/G] NM_001870 CPA3 EXON Missense_R20L exm357341 3 148586735 [A/G] NM_001870 CPA3 EXON Missense_V60I exm357342 3 148586742 [T/C] NM_001870 CPA3 EXON Missense_A62V exm357348 3 148596317 [A/G] NM_001870 CPA3 EXON Missense_N120S exm357352 3 148596462 [A/C] NM_001870 CPA3 EXON Missense_D134A exm357354 3 148596506 [G/C] NM_001870 CPA3 EXON Missense_V149L exm357357 3 148597602 [T/G] NM_001870 CPA3 EXON Missense_A168S exm357358 3 148597612 [T/C] NM_001870 CPA3 EXON Missense_T171M exm357362 3 148597632 [T/C] NM_001870 CPA3 EXON Nonsense_R178X exm2040886 3 148599357 [A/C] NM_001870 CPA3 EXON Synonymous_R209R exm357372 3 148600298 [T/A] NM_001870 CPA3 EXON Missense_M232L exm2040889 3 148600313 [T/C] NM_001870 CPA3 EXON Missense_R237C exm357378 3 148601439 [C/G] NM_001870 CPA3 EXON Missense_R273P exm357382 3 148601469 [T/C] NM_001870 CPA3 EXON Missense_T283M exm357390 3 148601571 [T/C] NM_001870 CPA3 EXON Missense_T317I exm357395 3 148603899 [A/G] NM_001870 CPA3 EXON Missense_G334D exm357396 3 148603920 [A/G] NM_001870 CPA3 EXON Missense_R341Q exm357401 3 148614472 [A/C] NM_001870 CPA3 EXON Missense_Y411S exm2255761 3 148673739 [A/G] exm357409 3 148711989 [A/G] NM_004130,NM_001184720,NM_001184721 GYG1,GYG1,GYG1 EXON Missense_G23E,Missense_G23E,Missense_G23E exm357411 3 148712019 [A/G] NM_004130,NM_001184720,NM_001184721 GYG1,GYG1,GYG1 EXON Missense_R33K,Missense_R33K,Missense_R33K exm357416 3 148714094 [T/C] NM_004130,NM_001184720,NM_001184721 GYG1,GYG1,GYG1 EXON Missense_V50A,Missense_V50A,Missense_V50A exm357424 3 148714249 [G/C] NM_004130,NM_001184720,NM_001184721 GYG1,GYG1,GYG1 EXON Missense_D102H,Missense_D102H,Missense_D102H exm357426 3 148714542 [T/C] NM_004130,NM_001184720,NM_001184721 GYG1,GYG1,GYG1 EXON Missense_I111T,Missense_I111T,Missense_I111T exm357429 3 148714649 [A/G] NM_004130,NM_001184720,NM_001184721 GYG1,GYG1,GYG1 EXON Missense_N147D,Missense_N147D,Missense_N147D exm357444 3 148741840 [A/G] NM_004130,NM_001184720,NM_001184721 GYG1,GYG1,GYG1 EXON Synonymous_V203V,Synonymous_V203V,Silent exm357455 3 148744625 [T/G] NM_004130,NM_001184720,NM_001184721 GYG1,GYG1,GYG1 EXON Nonsense_E320X,Nonsense_E303X,Missense_K229N exm2040934 3 148750077 [A/G] NM_139048,NM_003071 HLTF,HLTF EXON Missense_T987I,Missense_T987I exm357464 3 148750143 [C/G] NM_139048,NM_003071 HLTF,HLTF EXON Missense_S965C,Missense_S965C exm357481 3 148757849 [T/G] NM_139048,NM_003071 HLTF,HLTF EXON Missense_K824T,Missense_K824T exm357482 3 148757864 [T/C] NM_139048,NM_003071 HLTF,HLTF EXON Missense_R819H,Missense_R819H exm357484 3 148757880 [A/G] NM_139048,NM_003071 HLTF,HLTF EXON Missense_P814S,Missense_P814S exm357497 3 148759961 [T/C] NM_139048,NM_003071 HLTF,HLTF EXON Missense_G730D,Missense_G730D exm357498 3 148759964 [T/C] NM_139048,NM_003071 HLTF,HLTF EXON Missense_N729S,Missense_N729S exm357522 3 148768128 [T/C] NM_139048,NM_003071 HLTF,HLTF EXON Missense_H503R,Missense_H503R exm357528 3 148777576 [A/G] NM_139048,NM_003071 HLTF,HLTF EXON Missense_I435T,Missense_I435T exm357531 3 148778460 [T/C] NM_139048,NM_003071 HLTF,HLTF EXON Missense_V419I,Missense_V419I exm357540 3 148781246 [T/A] NM_139048,NM_003071 HLTF,HLTF EXON Missense_S378T,Missense_S378T exm357542 3 148781251 [T/C] NM_139048,NM_003071 HLTF,HLTF EXON Missense_R376H,Missense_R376H exm2238775 3 148782604 [A/C] NM_139048,NM_003071 HLTF,HLTF EXON Missense_S347I,Missense_S347I exm357549 3 148782649 [T/C] NM_139048,NM_003071 HLTF,HLTF EXON Missense_Y332C,Missense_Y332C exm357552 3 148786064 [A/G] NM_139048,NM_003071 HLTF,HLTF EXON Missense_L318P,Missense_L318P exm357553 3 148786085 [T/C] NM_139048,NM_003071 HLTF,HLTF EXON Missense_N311S,Missense_N311S exm357562 3 148789127 [T/C] NM_139048,NM_003071 HLTF,HLTF EXON Missense_D269G,Missense_D269G exm2040972 3 148789128 [T/C] NM_139048,NM_003071 HLTF,HLTF EXON Missense_D269N,Missense_D269N exm357569 3 148791055 [T/C] NM_139048,NM_003071 HLTF,HLTF EXON Missense_Y195C,Missense_Y195C exm357578 3 148793705 [T/C] NM_139048,NM_003071 HLTF,HLTF EXON Missense_A120T,Missense_A120T exm357581 3 148793804 [A/G] NM_139048,NM_003071 HLTF,HLTF EXON Nonsense_R87X,Nonsense_R87X exm357596 3 148857818 [A/G] NM_032383 HPS3 EXON Missense_K82R exm357599 3 148857916 [A/G] NM_032383 HPS3 EXON Missense_G115R exm357600 3 148858021 [A/G] NM_032383 HPS3 EXON Missense_V150I exm357605 3 148858165 [A/G] NM_032383 HPS3 EXON Missense_V198I exm357606 3 148858175 [T/C] NM_032383 HPS3 EXON Missense_M201T exm357609 3 148858234 [A/G] NM_032383 HPS3 EXON Missense_V221I exm357613 3 148858914 [A/G] NM_032383 HPS3 EXON Missense_E275K exm357618 3 148859084 [A/G] NM_032383 HPS3 EXON Missense_R296H exm357633 3 148863306 [T/C] NM_032383 HPS3 EXON Missense_T379M exm357649 3 148871401 [A/G] NM_032383 HPS3 EXON Missense_I456V exm2041021 3 148876472 [T/C] NM_032383 HPS3 EXON Missense_H571Y exm357673 3 148876548 [A/G] NM_032383 HPS3 EXON Missense_E596G exm357676 3 148876582 [C/G] NM_032383 HPS3 EXON Missense_I607M exm357678 3 148876631 [T/G] NM_032383 HPS3 EXON Nonsense_E624X exm357691 3 148880043 [A/G] NM_032383 HPS3 EXON Missense_G739R exm357693 3 148880107 [A/C] NM_032383 HPS3 EXON Missense_D760A exm357699 3 148880562 [T/C] NM_032383,NR_046371 HPS3,CP EXON Missense_V793A,Silent exm357718 3 148884930 [A/G] NM_032383,NR_046371 HPS3,CP EXON Missense_R900H,Silent exm357750 3 148895647 [T/C] NR_046371,NM_000096 CP,CP EXON Silent,Missense_G1000S exm357773 3 148899821 [T/C] NR_046371,NM_000096 CP,CP EXON Silent,Missense_E842G exm357774 3 148899824 [G/C] NR_046371,NM_000096 CP,CP EXON Silent,Missense_T841R exm357777 3 148899900 [T/C] NR_046371,NM_000096 CP,CP EXON Silent,Missense_V816I exm357779 3 148901300 [T/C] NR_046371,NM_000096 CP,CP EXON Silent,Missense_R793H exm357798 3 148904439 [T/C] NR_046371,NM_000096 CP,CP EXON Silent,Missense_A649T exm357800 3 148904457 [T/C] NR_046371,NM_000096 CP,CP EXON Silent,Missense_V643M exm357803 3 148904489 [A/G] NR_046371,NM_000096 CP,CP EXON Silent,Missense_P632L exm357811 3 148905929 [A/G] NR_046371,NM_000096 CP,CP EXON Silent,Missense_L592F exm357819 3 148917499 [T/G] NR_046371,NM_000096 CP,CP EXON Silent,Missense_S501R exm2238782 3 148917507 [T/C] NR_046371,NM_000096 CP,CP EXON Silent,Missense_Q498R exm357822 3 148917570 [A/G] NR_046371,NM_000096 CP,CP EXON Silent,Missense_P477L exm357828 3 148917643 [T/C] NR_046371,NM_000096 CP,CP EXON Silent,Missense_I453V exm357846 3 148924064 [A/G] NR_046371,NM_000096 CP,CP EXON Silent,Missense_R367C exm357850 3 148924125 [A/G] NR_046371,NM_000096 CP,CP EXON Silent,Synonymous_A346A exm357855 3 148925248 [A/G] NR_046371,NM_000096 CP,CP EXON Silent,Missense_T313I exm357856 3 148925257 [T/C] NR_046371,NM_000096 CP,CP EXON Silent,Missense_R310H exm357862 3 148925398 [T/C] NR_046371,NM_000096 CP,CP EXON Silent,Missense_N263S exm357868 3 148927063 [T/A] NR_046371,NM_000096 CP,CP EXON Silent,Missense_Y239F exm357872 3 148927156 [T/C] NR_046371,NM_000096 CP,CP EXON Silent,Missense_E208G exm357877 3 148928104 [T/C] NR_046371,NM_000096 CP,CP EXON Silent,Missense_E153K exm357881 3 148930285 [T/G] NR_046371,NM_000096 CP,CP EXON Silent,Missense_P116H exm357882 3 148930310 [A/G] NR_046371,NM_000096 CP,CP EXON Silent,Missense_H108Y exm357889 3 148930403 [C/G] NR_046371,NM_000096 CP,CP EXON Silent,Missense_D77H exm357891 3 148930433 [A/G] NR_046371,NM_000096 CP,CP EXON Silent,Missense_Y67H exm357893 3 148930481 [A/G] NR_046371,NM_000096 CP,CP EXON Silent,Missense_H51Y exm357898 3 148939540 [T/C] NR_046371,NM_000096 CP,CP EXON Silent,Missense_S14G exm357908 3 149040056 [A/G] NM_001184723,NM_138786 TM4SF18,TM4SF18 EXON Missense_S193L,Missense_S193L exm357915 3 149042668 [A/G] NM_001184723,NM_138786 TM4SF18,TM4SF18 EXON Missense_R137C,Missense_R137C exm357919 3 149042706 [A/G] NM_001184723,NM_138786 TM4SF18,TM4SF18 EXON Missense_L124P,Missense_L124P exm357920 3 149042712 [T/C] NM_001184723,NM_138786 TM4SF18,TM4SF18 EXON Missense_R122H,Missense_R122H exm357928 3 149048166 [T/C] NM_001184723,NM_138786 TM4SF18,TM4SF18 EXON Missense_N73S,Missense_N73S exm357930 3 149048185 [T/G] NM_001184723,NM_138786 TM4SF18,TM4SF18 EXON Missense_L67I,Missense_L67I exm357949 3 149089632 [A/G] NM_014220 TM4SF1 EXON Missense_W146R exm357968 3 149095235 [T/C] NM_014220 TM4SF1 EXON Missense_E34K exm357979 3 149192678 [A/G] NM_004617 TM4SF4 EXON Missense_G5D exm357981 3 149192698 [A/G] NM_004617 TM4SF4 EXON Missense_G12R exm357994 3 149216533 [A/T] NM_004617 TM4SF4 EXON Missense_L142F exm358004 3 149216646 [A/G] NM_004617 TM4SF4 EXON Missense_N180S exm358015 3 149238768 [T/C] NM_001168278,NM_015472,NM_001168280 WWTR1,WWTR1,WWTR1 EXON Missense_A343T,Missense_A343T,Missense_A343T exm358020 3 149243833 [T/C] NM_001168278,NM_015472,NM_001168280 WWTR1,WWTR1,WWTR1 EXON Missense_D329N,Missense_D329N,Missense_D329N exm358024 3 149245647 [T/C] NM_001168278,NM_015472,NM_001168280 WWTR1,WWTR1,WWTR1 EXON Missense_N294S,Missense_N294S,Missense_N294S exm2041153 3 149245654 [T/G] NM_001168278,NM_015472,NM_001168280 WWTR1,WWTR1,WWTR1 EXON Missense_T292P,Missense_T292P,Missense_T292P exm358025 3 149245675 [T/A] NM_001168278,NM_015472,NM_001168280 WWTR1,WWTR1,WWTR1 EXON Missense_T285S,Missense_T285S,Missense_T285S exm358033 3 149260270 [T/G] NM_001168278,NM_015472,NM_001168280 WWTR1,WWTR1,WWTR1 EXON Missense_N208T,Missense_N208T,Missense_N208T exm358036 3 149290675 [T/C] NM_001168278,NM_015472,NM_001168280 WWTR1,WWTR1,WWTR1 EXON Missense_M182V,Missense_M182V,Missense_M182V exm2255762 3 149362592 [A/G] NM_001168278,NM_015472,NM_001168280 WWTR1,WWTR1,WWTR1 Silent,Silent,Silent exm358050 3 149375068 [A/G] NM_001168278,NM_015472,NM_001168280 WWTR1,WWTR1,WWTR1 EXON Missense_P9L,Missense_P9L,Missense_P9L exm2269678 3 149459413 [T/C] NM_016094 COMMD2 EXON Synonymous_L165L exm358058 3 149459466 [T/C] NM_016094 COMMD2 EXON Missense_V148M exm358062 3 149468530 [T/G] NM_016094 COMMD2 EXON Missense_I113L exm358070 3 149469218 [T/C] NM_016094 COMMD2 EXON Missense_Y67C exm358083 3 149479284 [T/C] NM_001144960 ANKUB1 EXON Missense_E541G exm358089 3 149484960 [A/G] NM_001144960 ANKUB1 EXON Missense_C497R exm358091 3 149484969 [T/C] NM_001144960 ANKUB1 EXON Missense_A494T exm358098 3 149485293 [T/C] NM_001144960 ANKUB1 EXON Missense_S386G exm358105 3 149485531 [A/C] NM_001144960 ANKUB1 EXON Missense_I306M exm358108 3 149485580 [A/G] NM_001144960 ANKUB1 EXON Missense_V290A exm358109 3 149485581 [T/C] NM_001144960 ANKUB1 EXON Missense_V290I exm358118 3 149485850 [A/G] NM_001144960 ANKUB1 EXON Missense_A200V exm358126 3 149498097 [T/C] NM_001144960 ANKUB1 EXON Missense_Y127C exm358140 3 149563896 [A/C] NM_183381,NM_007282 RNF13,RNF13 EXON Missense_N28T,Missense_N28T exm358146 3 149589903 [G/C] NM_183381,NM_007282 RNF13,RNF13 EXON Missense_V95L,Missense_V95L exm358156 3 149629781 [A/G] NM_183381,NM_007282 RNF13,RNF13 EXON Missense_V173I,Missense_V173I exm358161 3 149638922 [T/C] NM_183381,NM_007282 RNF13,RNF13 EXON Missense_I203T,Missense_I203T exm2269552 3 149889584 [T/C] exm358284 3 150127576 [G/C] NM_014779 TSC22D2 EXON Missense_V147L exm358286 3 150127645 [T/G] NM_014779 TSC22D2 EXON Missense_G170W exm358299 3 150127948 [A/G] NM_014779 TSC22D2 EXON Missense_V271I exm358309 3 150128161 [T/C] NM_014779 TSC22D2 EXON Missense_P342S exm358315 3 150128392 [A/G] NM_014779 TSC22D2 EXON Missense_A419T exm358326 3 150128574 [T/G] NM_014779 TSC22D2 EXON Missense_Q479H exm358328 3 150128626 [A/G] NM_014779 TSC22D2 EXON Missense_G497S exm358341 3 150128839 [T/G] NM_014779 TSC22D2 EXON Missense_A568S exm358346 3 150140889 [T/C] NM_014779 TSC22D2 EXON Missense_S671L exm2255764 3 150176303 [A/G] NM_014779 TSC22D2 EXON Synonymous_Q741Q exm358358 3 150176316 [A/C] NM_014779 TSC22D2 EXON Missense_P746T exm358361 3 150176352 [A/C] NM_014779 TSC22D2 EXON Missense_Q758K exm2238792 3 150264428 [T/C] NM_014445 SERP1 EXON Silent exm358391 3 150280445 [G/C] NM_032025 EIF2A EXON Missense_T97S exm358392 3 150281340 [T/C] NM_032025 EIF2A EXON Missense_L111F exm358407 3 150289757 [A/C] NM_032025 EIF2A EXON Missense_P275H exm358411 3 150289862 [T/C] NM_032025 EIF2A EXON Missense_F310S exm358416 3 150290062 [T/C] NM_032025 EIF2A EXON Missense_C377R exm358419 3 150290150 [G/C] NM_032025 EIF2A EXON Missense_A406G exm358420 3 150290165 [T/G] NM_032025 EIF2A EXON Missense_V411G exm358426 3 150290316 [A/G] NM_032025 EIF2A EXON Synonymous_L461L exm358441 3 150321225 [A/G] NM_016275 SELT EXON Missense_V26M exm358455 3 150342611 [A/G] NM_016275 SELT EXON Missense_M130V exm358462 3 150377771 [A/G] NM_152394 FAM194A EXON Missense_L634F exm358464 3 150377860 [T/C] NM_152394 FAM194A EXON Missense_R604H exm358473 3 150384637 [C/G] NM_152394 FAM194A EXON Missense_K555N exm358482 3 150384801 [A/C] NM_152394 FAM194A EXON Missense_V501L exm358486 3 150387095 [T/C] NM_152394 FAM194A EXON Missense_N496S exm358487 3 150387108 [A/C] NM_152394 FAM194A EXON Missense_C492G exm358492 3 150387209 [T/C] NM_152394 FAM194A EXON Missense_R458Q exm358494 3 150391789 [T/C] NM_152394 FAM194A EXON Missense_G433R exm358495 3 150391810 [A/C] NM_152394 FAM194A EXON Missense_L426V exm358504 3 150398311 [A/C] NM_152394 FAM194A EXON Missense_R352L exm358507 3 150398594 [T/C] NM_152394 FAM194A EXON Missense_D336N exm358510 3 150400030 [T/C] NM_152394 FAM194A EXON Missense_D286G exm358513 3 150400088 [A/T] NM_152394 FAM194A EXON Missense_T267S exm358515 3 150403588 [T/C] NM_152394 FAM194A EXON Missense_G242R exm358518 3 150403630 [T/C] NM_152394 FAM194A EXON Missense_I228V exm358525 3 150404106 [T/A] NM_152394 FAM194A EXON Missense_C197S exm358526 3 150404142 [T/C] NM_152394 FAM194A Silent exm358529 3 150416658 [T/C] NM_152394 FAM194A EXON Missense_R158H exm358530 3 150416659 [A/G] NM_152394 FAM194A EXON Missense_R158C exm358539 3 150421345 [T/C] NM_152394 FAM194A EXON Missense_Q114R exm358540 3 150421354 [T/A] NM_152394 FAM194A EXON Missense_V111E exm358563 3 150421660 [A/C] NM_152394 FAM194A EXON Missense_G9V exm358571 3 150459935 [T/C] NM_005067 SIAH2 EXON Missense_C323Y exm358585 3 150460332 [T/C] NM_005067 SIAH2 EXON Missense_A191T exm2265628 3 150530065 [A/G] exm2269553 3 150609866 [T/C] exm358610 3 150645894 [A/C] NM_052995,NR_046380,NM_174878,NM_001256819,NM_001195794 CLRN1,CLRN1,CLRN1,CLRN1,CLRN1 EXON Nonsense_Y100X,Silent,Nonsense_Y176X,Silent,Nonsense_Y189X exm358615 3 150645985 [A/G] NM_052995,NR_046380,NM_174878,NM_001256819,NM_001195794 CLRN1,CLRN1,CLRN1,CLRN1,CLRN1 EXON Missense_S70F,Silent,Missense_S146F,Silent,Missense_S159F exm358620 3 150659480 [A/G] NM_052995,NR_046380,NM_174878,NM_001256819,NM_001195794 CLRN1,CLRN1,CLRN1,CLRN1,CLRN1 EXON Missense_L32F,Silent,Missense_L108F,Missense_P165L,Missense_L108F exm358629 3 150690278 [T/C] NR_046380,NM_174878,NM_001256819,NM_001195794 CLRN1,CLRN1,CLRN1,CLRN1 EXON Silent,Missense_Q73R,Missense_Q73R,Missense_Q73R exm358631 3 150690313 [T/C] NR_046380,NM_174878,NM_001256819,NM_001195794 CLRN1,CLRN1,CLRN1,CLRN1 EXON Silent,Missense_M61I,Missense_M61I,Missense_M61I exm358637 3 150690378 [A/C] NR_046380,NM_174878,NM_001256819,NM_001195794 CLRN1,CLRN1,CLRN1,CLRN1 EXON Silent,Missense_C40G,Missense_C40G,Missense_C40G exm358641 3 150690476 [A/T] NR_046380,NM_174878,NM_001256819,NM_001195794,NR_024066 CLRN1,CLRN1,CLRN1,CLRN1,CLRN1-AS1 EXON Silent,Missense_K7I,Missense_K7I,Missense_K7I,Silent exm358642 3 150690487 [T/G] NR_046380,NM_174878,NM_001256819,NM_001195794,NR_024066 CLRN1,CLRN1,CLRN1,CLRN1,CLRN1-AS1 EXON Silent,Missense_S3R,Missense_S3R,Missense_S3R,Silent exm2255765 3 150690490 [T/G] NR_046380,NM_174878,NM_001256819,NM_001195794,NR_024066 CLRN1,CLRN1,CLRN1,CLRN1,CLRN1-AS1 EXON Silent,Synonymous_P2P,Synonymous_P2P,Synonymous_P2P,Silent exm358670 3 150874057 [T/G] NM_053002 MED12L EXON Missense_E222D exm358689 3 150881774 [A/C] NM_053002 MED12L EXON Missense_Q401P exm358698 3 150883678 [A/G] NM_053002 MED12L EXON Missense_R468H exm358716 3 150908578 [T/G] NM_053002 MED12L EXON Missense_D610Y exm358738 3 150916327 [T/C] NM_053002,NM_013308 MED12L,GPR171 EXON Silent,Missense_I283V exm2238799 3 150916945 [T/C] NM_053002,NM_013308 MED12L,GPR171 EXON Silent,Missense_V77M exm358768 3 150917006 [G/C] NM_053002,NM_013308 MED12L,GPR171 EXON Silent,Missense_L56F exm2238800 3 150917062 [T/C] NM_053002,NM_013308 MED12L,GPR171 EXON Silent,Missense_A38T exm358783 3 150931146 [A/G] NM_053002,NM_001081455,NM_014879 MED12L,P2RY14,P2RY14 EXON Silent,Missense_L320P,Missense_L320P exm358785 3 150931174 [A/G] NM_053002,NM_001081455,NM_014879 MED12L,P2RY14,P2RY14 EXON Silent,Missense_H311Y,Missense_H311Y exm2041441 3 150931197 [G/C] NM_053002,NM_001081455,NM_014879 MED12L,P2RY14,P2RY14 EXON Silent,Missense_R303T,Missense_R303T exm358787 3 150931203 [A/G] NM_053002,NM_001081455,NM_014879 MED12L,P2RY14,P2RY14 EXON Silent,Missense_P301L,Missense_P301L exm358792 3 150931282 [A/G] NM_053002,NM_001081455,NM_014879 MED12L,P2RY14,P2RY14 EXON Silent,Missense_Y275H,Missense_Y275H exm358808 3 150931605 [A/G] NM_053002,NM_001081455,NM_014879 MED12L,P2RY14,P2RY14 EXON Silent,Missense_V167A,Missense_V167A exm358815 3 150931798 [T/C] NM_053002,NM_001081455,NM_014879 MED12L,P2RY14,P2RY14 EXON Silent,Missense_V103I,Missense_V103I exm358825 3 150931989 [A/T] NM_053002,NM_001081455,NM_014879 MED12L,P2RY14,P2RY14 EXON Silent,Missense_L39H,Missense_L39H exm358826 3 150931990 [G/C] NM_053002,NM_001081455,NM_014879 MED12L,P2RY14,P2RY14 EXON Silent,Missense_L39V,Missense_L39V exm358834 3 150932086 [T/G] NM_053002,NM_001081455,NM_014879 MED12L,P2RY14,P2RY14 EXON Silent,Missense_T7P,Missense_T7P exm358837 3 151011985 [T/C] NM_053002,NM_023915 MED12L,GPR87 EXON Silent,Missense_R350H exm358847 3 151012255 [A/C] NM_053002,NM_023915 MED12L,GPR87 EXON Silent,Missense_V260G exm358852 3 151012393 [A/G] NM_053002,NM_023915 MED12L,GPR87 EXON Silent,Missense_L214S exm358853 3 151012420 [A/G] NM_053002,NM_023915 MED12L,GPR87 EXON Silent,Missense_T205M exm358858 3 151012468 [A/G] NM_053002,NM_023915 MED12L,GPR87 EXON Silent,Missense_I189T exm358859 3 151012481 [T/C] NM_053002,NM_023915 MED12L,GPR87 EXON Silent,Missense_T185A exm358863 3 151012541 [T/C] NM_053002,NM_023915 MED12L,GPR87 EXON Silent,Missense_V165I exm358876 3 151012832 [A/G] NM_053002,NM_023915 MED12L,GPR87 EXON Silent,Missense_F68L exm2238804 3 151012906 [A/G] NM_053002,NM_023915 MED12L,GPR87 EXON Silent,Missense_I43T exm358890 3 151017855 [T/G] NM_053002,NM_023915 MED12L,GPR87 EXON Silent,Missense_N12H exm358899 3 151045832 [A/C] NM_053002,NM_176894 MED12L,P2RY13 EXON Silent,Missense_A338S exm358903 3 151045976 [T/C] NM_053002,NM_176894 MED12L,P2RY13 EXON Silent,Missense_R290G exm358923 3 151046398 [A/G] NM_053002,NM_176894 MED12L,P2RY13 EXON Silent,Missense_L149S exm358926 3 151046441 [G/C] NM_053002,NM_176894 MED12L,P2RY13 EXON Silent,Missense_G135R exm358931 3 151046506 [T/G] NM_053002,NM_176894 MED12L,P2RY13 EXON Silent,Missense_A113D exm358944 3 151055645 [T/C] NM_053002,NM_022788,NM_176876 MED12L,P2RY12,P2RY12 EXON Silent,Missense_E330G,Missense_E330G exm358964 3 151056254 [A/G] NM_053002,NM_022788,NM_176876 MED12L,P2RY12,P2RY12 EXON Silent,Missense_T127I,Missense_T127I exm358977 3 151056611 [T/G] NM_053002,NM_022788,NM_176876 MED12L,P2RY12,P2RY12 EXON Silent,Missense_T8N,Missense_T8N exm358997 3 151075103 [T/C] NM_053002,NM_022788 MED12L,P2RY12 EXON Missense_L887F,Silent exm359040 3 151090424 [A/G] NM_053002,NM_022788 MED12L,P2RY12 EXON Missense_R1210Q,Silent exm359042 3 151090471 [A/C] NM_053002,NM_022788 MED12L,P2RY12 EXON Missense_K1226Q,Silent exm2265629 3 151090963 [A/G] NM_053002,NM_022788 MED12L,P2RY12 Silent,Silent exm359066 3 151100493 [A/G] NM_053002,NM_022788 MED12L,P2RY12 EXON Missense_R1512Q,Silent exm359082 3 151105707 [A/G] NM_053002 MED12L EXON Missense_R1698Q exm359087 3 151105881 [A/G] NM_053002 MED12L EXON Missense_D1756G exm359092 3 151105949 [T/C] NM_053002 MED12L EXON Missense_S1779P exm359095 3 151107788 [T/C] NM_053002 MED12L EXON Missense_Y1790H exm359096 3 151107797 [C/G] NM_053002 MED12L EXON Missense_P1793A exm359112 3 151129067 [A/C] NM_053002 MED12L EXON Missense_T1936N exm359114 3 151129087 [A/G] NM_053002 MED12L EXON Missense_M1943V exm359115 3 151129121 [T/C] NM_053002 MED12L EXON Missense_S1954L exm359144 3 151148099 [A/G] NM_053002 MED12L EXON Missense_G2106S exm359157 3 151154509 [T/C] NM_001178146,NM_001178145,NM_178822 IGSF10,IGSF10,IGSF10 EXON Missense_D593N,Missense_D641N,Missense_D2614N exm359166 3 151154614 [A/G] NM_001178146,NM_001178145,NM_178822 IGSF10,IGSF10,IGSF10 EXON Missense_H558Y,Missense_H606Y,Missense_H2579Y exm359168 3 151154634 [A/G] NM_001178146,NM_001178145,NM_178822 IGSF10,IGSF10,IGSF10 EXON Missense_T551M,Missense_T599M,Missense_T2572M exm359169 3 151154666 [T/C] NM_001178146,NM_001178145,NM_178822 IGSF10,IGSF10,IGSF10 EXON Synonymous_T540T,Synonymous_T588T,Synonymous_T2561T exm2255767 3 151154666 [T/C] NM_001178146,NM_001178145,NM_178822 IGSF10,IGSF10,IGSF10 EXON Synonymous_T540T,Synonymous_T588T,Synonymous_T2561T exm359174 3 151154781 [A/G] NM_001178146,NM_001178145,NM_178822 IGSF10,IGSF10,IGSF10 EXON Missense_I502T,Missense_I550T,Missense_I2523T exm359180 3 151154899 [T/C] NM_001178146,NM_001178145,NM_178822 IGSF10,IGSF10,IGSF10 EXON Missense_I463V,Missense_I511V,Missense_I2484V exm359182 3 151154923 [T/A] NM_001178146,NM_001178145,NM_178822 IGSF10,IGSF10,IGSF10 EXON Missense_R455W,Missense_R503W,Missense_R2476W exm359189 3 151155090 [A/G] NM_001178146,NM_001178145,NM_178822 IGSF10,IGSF10,IGSF10 EXON Missense_I399T,Missense_I447T,Missense_I2420T exm359192 3 151155132 [A/G] NM_001178146,NM_001178145,NM_178822 IGSF10,IGSF10,IGSF10 EXON Missense_A385V,Missense_A433V,Missense_A2406V exm359196 3 151155169 [T/C] NM_001178146,NM_001178145,NM_178822 IGSF10,IGSF10,IGSF10 EXON Missense_G373S,Missense_G421S,Missense_G2394S exm359201 3 151155225 [T/C] NM_001178146,NM_001178145,NM_178822 IGSF10,IGSF10,IGSF10 EXON Missense_N354S,Missense_N402S,Missense_N2375S exm359207 3 151155340 [A/G] NM_001178146,NM_001178145,NM_178822 IGSF10,IGSF10,IGSF10 EXON Missense_P316S,Missense_P364S,Missense_P2337S exm359216 3 151155519 [T/C] NM_001178146,NM_001178145,NM_178822 IGSF10,IGSF10,IGSF10 EXON Missense_D256G,Missense_D304G,Missense_D2277G exm359220 3 151155603 [T/G] NM_001178146,NM_001178145,NM_178822 IGSF10,IGSF10,IGSF10 EXON Missense_A228D,Missense_A276D,Missense_A2249D exm359224 3 151155702 [T/C] NM_001178146,NM_001178145,NM_178822 IGSF10,IGSF10,IGSF10 EXON Missense_R195Q,Missense_R243Q,Missense_R2216Q exm359225 3 151155703 [A/G] NM_001178146,NM_001178145,NM_178822 IGSF10,IGSF10,IGSF10 EXON Nonsense_R195X,Nonsense_R243X,Nonsense_R2216X exm359231 3 151155789 [A/G] NM_001178146,NM_001178145,NM_178822 IGSF10,IGSF10,IGSF10 EXON Missense_I166T,Missense_I214T,Missense_I2187T exm359234 3 151155892 [T/C] NM_001178146,NM_001178145,NM_178822 IGSF10,IGSF10,IGSF10 EXON Missense_I132V,Missense_I180V,Missense_I2153V exm359244 3 151156090 [T/C] NM_001178146,NM_001178145,NM_178822 IGSF10,IGSF10,IGSF10 EXON Missense_D66N,Missense_D114N,Missense_D2087N exm359246 3 151156104 [T/C] NM_001178146,NM_001178145,NM_178822 IGSF10,IGSF10,IGSF10 EXON Missense_N61S,Missense_N109S,Missense_N2082S exm359253 3 151156343 [A/C] NM_001178146,NM_001178145,NM_178822 IGSF10,IGSF10,IGSF10 EXON Silent,Missense_F29L,Missense_F2002L exm359256 3 151156366 [T/C] NM_001178146,NM_001178145,NM_178822 IGSF10,IGSF10,IGSF10 EXON Silent,Missense_V22I,Missense_V1995I exm359257 3 151156371 [A/G] NM_001178146,NM_001178145,NM_178822 IGSF10,IGSF10,IGSF10 EXON Silent,Missense_I20T,Missense_I1993T exm359276 3 151161100 [A/C] NM_178822 IGSF10 EXON Missense_S1879A exm359277 3 151161112 [A/G] NM_178822 IGSF10 EXON Missense_Y1875H exm359278 3 151161115 [T/C] NM_178822 IGSF10 EXON Missense_V1874I exm359282 3 151161258 [T/C] NM_178822 IGSF10 EXON Missense_G1826D exm359286 3 151161330 [T/A] NM_178822 IGSF10 EXON Missense_D1802V exm2041583 3 151161372 [C/G] NM_178822 IGSF10 EXON Nonsense_S1788X exm359307 3 151162772 [C/G] NM_178822 IGSF10 EXON Missense_A1666G exm359312 3 151162965 [A/C] NM_178822 IGSF10 EXON Nonsense_E1602X exm359314 3 151162987 [T/C] NM_178822 IGSF10 EXON Missense_M1594I exm359316 3 151163021 [A/G] NM_178822 IGSF10 EXON Missense_I1583T exm359323 3 151163138 [A/G] NM_178822 IGSF10 EXON Missense_S1544F exm359324 3 151163156 [A/G] NM_178822 IGSF10 EXON Missense_T1538I exm359325 3 151163162 [A/G] NM_178822 IGSF10 EXON Missense_I1536T exm359327 3 151163205 [T/C] NM_178822 IGSF10 EXON Missense_V1522I exm359340 3 151163352 [T/C] NM_178822 IGSF10 EXON Missense_M1473V exm359345 3 151163582 [A/G] NM_178822 IGSF10 EXON Missense_S1396F exm359355 3 151163696 [C/G] NM_178822 IGSF10 EXON Missense_P1358R exm359356 3 151163702 [A/G] NM_178822 IGSF10 EXON Missense_T1356I exm359358 3 151163727 [T/G] NM_178822 IGSF10 EXON Missense_Q1348K exm359362 3 151163794 [G/C] NM_178822 IGSF10 EXON Missense_F1325L exm359364 3 151163838 [T/C] NM_178822 IGSF10 EXON Missense_I1311V exm359368 3 151163913 [T/C] NM_178822 IGSF10 EXON Missense_K1286E exm359372 3 151163972 [G/C] NM_178822 IGSF10 EXON Missense_T1266S exm359373 3 151163973 [T/A] NM_178822 IGSF10 EXON Missense_T1266S exm2273974 3 151164013 [A/G] NM_178822 IGSF10 EXON Synonymous_F1252F exm359375 3 151164032 [T/G] NM_178822 IGSF10 EXON Missense_K1246T exm359377 3 151164057 [T/C] NM_178822 IGSF10 EXON Missense_T1238A exm359381 3 151164174 [A/C] NM_178822 IGSF10 EXON Missense_S1199A exm359382 3 151164189 [T/C] NM_178822 IGSF10 EXON Missense_A1194T exm359384 3 151164195 [T/C] NM_178822 IGSF10 EXON Missense_I1192V exm359406 3 151164674 [T/C] NM_178822 IGSF10 EXON Missense_R1032Q exm359415 3 151164827 [A/G] NM_178822 IGSF10 EXON Missense_T981M exm359418 3 151164891 [C/G] NM_178822 IGSF10 EXON Missense_E960Q exm359422 3 151164917 [T/G] NM_178822 IGSF10 EXON Missense_T951K exm359425 3 151165106 [T/G] NM_178822 IGSF10 EXON Missense_Q888P exm359437 3 151165291 [T/G] NM_178822 IGSF10 EXON Missense_R826S exm359438 3 151165292 [C/G] NM_178822 IGSF10 EXON Missense_R826T exm359443 3 151165386 [T/C] NM_178822 IGSF10 EXON Missense_D795N exm359446 3 151165409 [A/G] NM_178822 IGSF10 EXON Missense_P787L exm359452 3 151165532 [C/G] NM_178822 IGSF10 EXON Missense_P746R exm359460 3 151165610 [T/C] NM_178822 IGSF10 EXON Missense_N720S exm-IND3-152648307 3 151165618 [I/D] NM_178822 IGSF10 EXON exm359462 3 151165643 [A/C] NM_178822 IGSF10 EXON Missense_G709V exm359465 3 151165701 [T/G] NM_178822 IGSF10 EXON Missense_L690I exm359468 3 151165770 [T/G] NM_178822 IGSF10 EXON Missense_Q667K exm359469 3 151165778 [A/G] NM_178822 IGSF10 EXON Missense_M664T exm359472 3 151165859 [A/G] NM_178822 IGSF10 EXON Missense_P637L exm359479 3 151166007 [T/C] NM_178822 IGSF10 EXON Missense_G588S exm359482 3 151166049 [T/C] NM_178822 IGSF10 EXON Missense_E574K exm359484 3 151166058 [A/G] NM_178822 IGSF10 EXON Missense_P571S exm359487 3 151166124 [A/G] NM_178822 IGSF10 EXON Missense_Y549H exm359488 3 151166127 [T/C] NM_178822 IGSF10 EXON Missense_V548I exm359493 3 151166312 [A/G] NM_178822 IGSF10 EXON Missense_T486I exm359497 3 151166387 [A/G] NM_178822 IGSF10 EXON Missense_P461L exm359498 3 151166397 [T/C] NM_178822 IGSF10 EXON Missense_I458V exm2041618 3 151166522 [A/G] NM_178822 IGSF10 EXON Missense_T416I exm359507 3 151166615 [A/G] NM_178822 IGSF10 EXON Missense_P385L exm359511 3 151166723 [T/C] NM_178822 IGSF10 EXON Missense_N349S exm359514 3 151166835 [A/G] NM_178822 IGSF10 EXON Missense_P312S exm359523 3 151167014 [A/G] NM_178822 IGSF10 EXON Missense_A252V exm359525 3 151171204 [T/G] NM_178822 IGSF10 EXON Missense_K228T exm359532 3 151171329 [T/G] NM_178822 IGSF10 EXON Missense_F186L exm359537 3 151171406 [T/C] NM_178822 IGSF10 EXON Missense_E161K exm359538 3 151171420 [A/C] NM_178822 IGSF10 EXON Missense_R156L exm359540 3 151171439 [A/C] NM_178822 IGSF10 EXON Missense_Y150D exm359545 3 151171483 [T/G] NM_178822 IGSF10 EXON Missense_H135P exm359547 3 151171516 [A/G] NM_178822 IGSF10 EXON Missense_T124I exm359548 3 151171534 [T/C] NM_178822 IGSF10 EXON Missense_R118Q exm359549 3 151171535 [A/G] NM_178822 IGSF10 EXON Nonsense_R118X exm359551 3 151174852 [T/C] NM_178822 IGSF10 EXON Missense_I96V exm359556 3 151176325 [T/C] NM_178822 IGSF10 EXON Missense_N58S exm359566 3 151176451 [A/G] NM_178822 IGSF10 EXON Missense_A16V exm2255768 3 151314495 [A/G] exm359572 3 151451961 [A/G] NR_031678,NM_207365 MIR548H2,AADACL2 EXON Silent,Synonymous_T46T exm359573 3 151458456 [A/G] NR_031678,NM_207365 MIR548H2,AADACL2 EXON Silent,Missense_R54H exm2041661 3 151458518 [T/C] NR_031678,NM_207365 MIR548H2,AADACL2 EXON Silent,Missense_S75P exm359576 3 151458560 [A/G] NR_031678,NM_207365 MIR548H2,AADACL2 EXON Silent,Missense_I89V exm359579 3 151458602 [T/C] NR_031678,NM_207365 MIR548H2,AADACL2 EXON Silent,Nonsense_R103X exm359581 3 151458609 [A/G] NR_031678,NM_207365 MIR548H2,AADACL2 EXON Silent,Missense_R105Q exm2041664 3 151461925 [T/C] NR_031678,NM_207365 MIR548H2,AADACL2 EXON Silent,Missense_L136F exm359599 3 151463421 [T/G] NR_031678,NM_207365 MIR548H2,AADACL2 EXON Silent,Missense_A186S exm359600 3 151463422 [T/C] NR_031678,NM_207365 MIR548H2,AADACL2 EXON Silent,Missense_A186V exm359630 3 151475311 [A/T] NR_031678,NM_207365 MIR548H2,AADACL2 EXON Silent,Missense_S379T exm359634 3 151531952 [T/C] NR_031678,NM_001086 MIR548H2,AADAC EXON Silent,Missense_M1T exm359649 3 151535235 [A/G] NR_031678,NM_001086 MIR548H2,AADAC EXON Silent,Missense_T74A exm359661 3 151538227 [A/G] NR_031678,NM_001086 MIR548H2,AADAC EXON Silent,Missense_V140I exm359665 3 151542533 [A/G] NM_001086 AADAC EXON Missense_V172I exm359671 3 151545504 [T/A] NM_001086 AADAC EXON Missense_R248S exm359677 3 151545601 [A/G] NM_001086 AADAC EXON Missense_V281I exm359679 3 151545611 [T/G] NM_001086 AADAC EXON Missense_S284I exm2041693 3 151545686 [A/C] NM_001086 AADAC EXON Missense_K309T exm359681 3 151545726 [T/G] NM_001086 AADAC EXON Missense_L322F exm359682 3 151545733 [A/G] NM_001086 AADAC EXON Missense_D325N exm359687 3 151545830 [A/G] NM_001086 AADAC EXON Missense_R357H exm2041695 3 151545858 [C/G] NM_001086 AADAC EXON Missense_N366K exm359691 3 151545958 [T/C] NM_001086 AADAC EXON Missense_X400Q exm-rs6798928 3 151579873 [A/T] exm359703 3 151598470 [A/G] NM_033050 SUCNR1 EXON Missense_G47S exm359704 3 151598475 [A/C] NM_033050 SUCNR1 EXON Nonsense_Y48X exm359708 3 151598555 [T/C] NM_033050 SUCNR1 EXON Missense_T75I exm359712 3 151598684 [T/C] NM_033050 SUCNR1 EXON Missense_I118T exm359717 3 151598717 [A/G] NM_033050 SUCNR1 EXON Missense_R129Q exm359721 3 151598828 [T/C] NM_033050 SUCNR1 EXON Missense_T166I exm359730 3 151599086 [A/G] NM_033050 SUCNR1 EXON Missense_R252Q exm359736 3 151599173 [A/G] NM_033050 SUCNR1 EXON Missense_R281Q exm-rs161792 3 151899704 [A/T] exm2265630 3 151921374 [A/G] exm2264011 3 151978186 [A/C] exm359749 3 152058344 [A/G] NM_021038,NM_207292,NM_207296,NM_207293,NM_207297,NM_207295,NM_207294,NM_001123228 MBNL1,MBNL1,MBNL1,MBNL1,MBNL1,MBNL1,MBNL1,TMEM14E EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_M117T exm359751 3 152058351 [T/C] NM_021038,NM_207292,NM_207296,NM_207293,NM_207297,NM_207295,NM_207294,NM_001123228 MBNL1,MBNL1,MBNL1,MBNL1,MBNL1,MBNL1,MBNL1,TMEM14E EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_V115I exm359753 3 152058449 [A/G] NM_021038,NM_207292,NM_207296,NM_207293,NM_207297,NM_207295,NM_207294,NM_001123228 MBNL1,MBNL1,MBNL1,MBNL1,MBNL1,MBNL1,MBNL1,TMEM14E EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_L82P exm359755 3 152058469 [A/C] NM_021038,NM_207292,NM_207296,NM_207293,NM_207297,NM_207295,NM_207294,NM_001123228 MBNL1,MBNL1,MBNL1,MBNL1,MBNL1,MBNL1,MBNL1,TMEM14E EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_R75S exm2041713 3 152058626 [A/G] NM_021038,NM_207292,NM_207296,NM_207293,NM_207297,NM_207295,NM_207294,NM_001123228 MBNL1,MBNL1,MBNL1,MBNL1,MBNL1,MBNL1,MBNL1,TMEM14E EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_A23V exm2255772 3 152150628 [A/G] NM_021038,NM_207292,NM_207296,NM_207293,NM_207297,NM_207295,NM_207294 MBNL1,MBNL1,MBNL1,MBNL1,MBNL1,MBNL1,MBNL1 EXON Synonymous_L156L,Synonymous_L156L,Synonymous_L156L,Synonymous_L156L,Synonymous_L156L,Silent,Silent exm2255773 3 152165477 [T/C] NM_021038,NM_207292,NM_207296,NM_207293,NM_207297,NM_207295,NM_207294 MBNL1,MBNL1,MBNL1,MBNL1,MBNL1,MBNL1,MBNL1 EXON Synonymous_T292T,Synonymous_T292T,Silent,Synonymous_T310T,Synonymous_T292T,Synonymous_T224T,Synonymous_T224T exm359796 3 152174133 [A/C] NM_021038,NM_207292,NM_207296,NM_207293,NM_207297,NM_207295,NM_207294 MBNL1,MBNL1,MBNL1,MBNL1,MBNL1,MBNL1,MBNL1 EXON Missense_T359P,Missense_T347P,Missense_Q295H,Missense_T365P,Silent,Missense_T291P,Missense_T279P exm359797 3 152175920 [T/C] NM_021038,NM_207292,NM_207296,NM_207293,NM_207297,NM_207295,NM_207294 MBNL1,MBNL1,MBNL1,MBNL1,MBNL1,MBNL1,MBNL1 EXON Silent,Silent,Missense_P302S,Silent,Silent,Silent,Silent exm2265512 3 152328890 [A/G] exm359816 3 152553909 [A/G] NM_002563 P2RY1 EXON Missense_N113S exm-rs6785504 3 152672779 [T/G] exm2261410 3 152864665 [T/G] exm359862 3 153202348 [A/G] NM_001101337 C3orf79 EXON Missense_M1I exm359868 3 153203844 [A/C] NM_001101337 C3orf79 EXON Missense_H58P exm359871 3 153220213 [T/C] NM_001101337 C3orf79 EXON Missense_T82I exm359872 3 153220243 [A/C] NM_001101337 C3orf79 EXON Missense_Q92P exm2265631 3 153258272 [A/G] exm2265513 3 153550577 [A/G] exm359875 3 153839806 [T/A] NM_001251962,NM_001251963,NM_015595 ARHGEF26,ARHGEF26,ARHGEF26 EXON Missense_F9I,Missense_F9I,Missense_F9I exm359877 3 153839852 [T/C] NM_001251962,NM_001251963,NM_015595 ARHGEF26,ARHGEF26,ARHGEF26 EXON Missense_P24L,Missense_P24L,Missense_P24L exm359878 3 153839866 [G/C] NM_001251962,NM_001251963,NM_015595 ARHGEF26,ARHGEF26,ARHGEF26 EXON Missense_V29L,Missense_V29L,Missense_V29L exm359884 3 153839947 [C/G] NM_001251962,NM_001251963,NM_015595 ARHGEF26,ARHGEF26,ARHGEF26 EXON Missense_G56R,Missense_G56R,Missense_G56R exm359886 3 153839959 [T/C] NM_001251962,NM_001251963,NM_015595 ARHGEF26,ARHGEF26,ARHGEF26 EXON Missense_L60F,Missense_L60F,Missense_L60F exm359892 3 153840104 [T/C] NM_001251962,NM_001251963,NM_015595 ARHGEF26,ARHGEF26,ARHGEF26 EXON Missense_L108P,Missense_L108P,Missense_L108P exm2255778 3 153840267 [T/C] NM_001251962,NM_001251963,NM_015595 ARHGEF26,ARHGEF26,ARHGEF26 EXON Synonymous_L162L,Synonymous_L162L,Synonymous_L162L exm359910 3 153840328 [G/C] NM_001251962,NM_001251963,NM_015595 ARHGEF26,ARHGEF26,ARHGEF26 EXON Missense_D183H,Missense_D183H,Missense_D183H exm359916 3 153840449 [A/G] NM_001251962,NM_001251963,NM_015595 ARHGEF26,ARHGEF26,ARHGEF26 EXON Missense_Q223R,Missense_Q223R,Missense_Q223R exm359929 3 153847507 [T/C] NM_001251962,NM_001251963,NM_015595 ARHGEF26,ARHGEF26,ARHGEF26 EXON Missense_A423V,Missense_A423V,Missense_A423V exm359939 3 153909204 [A/G] NM_001251962,NM_001251963,NM_015595 ARHGEF26,ARHGEF26,ARHGEF26 EXON Missense_M589I,Missense_M589I,Missense_M589I exm359940 3 153912438 [C/G] NM_001251962,NM_001251963,NM_015595 ARHGEF26,ARHGEF26,ARHGEF26 EXON Missense_I592M,Missense_I592M,Missense_I592M exm359958 3 153943770 [C/G] NM_001251962,NM_001251963,NM_015595 ARHGEF26,ARHGEF26,ARHGEF26 EXON Missense_N687K,Missense_N687K,Missense_N687K exm359961 3 153958173 [A/G] NM_001251962,NM_001251963,NM_015595 ARHGEF26,ARHGEF26,ARHGEF26 EXON Missense_N702S,Missense_N702S,Missense_N702S exm359967 3 153958268 [A/C] NM_001251962,NM_001251963,NM_015595 ARHGEF26,ARHGEF26,ARHGEF26 EXON Missense_L734I,Missense_L734I,Missense_L734I exm359984 3 153972583 [A/G] NM_001251962,NM_001251963,NM_015595 ARHGEF26,ARHGEF26,ARHGEF26 EXON Missense_V815I,Silent,Missense_V815I exm359991 3 153993964 [T/C] NM_001114397,NM_020865 DHX36,DHX36 EXON Missense_S994N,Missense_S1008N exm359992 3 153993974 [T/C] NM_001114397,NM_020865 DHX36,DHX36 EXON Missense_G991R,Missense_G1005R exm359993 3 153993985 [T/C] NM_001114397,NM_020865 DHX36,DHX36 EXON Missense_R987Q,Missense_R1001Q exm359994 3 153993991 [A/G] NM_001114397,NM_020865 DHX36,DHX36 EXON Missense_P985L,Missense_P999L exm2255779 3 153998619 [T/C] NM_001114397,NM_020865 DHX36,DHX36 EXON Synonymous_E789E,Synonymous_E803E exm360029 3 154010399 [T/C] NM_001114397,NM_020865 DHX36,DHX36 EXON Synonymous_T571T,Synonymous_T585T exm2255780 3 154010399 [T/C] NM_001114397,NM_020865 DHX36,DHX36 EXON Synonymous_T571T,Synonymous_T585T exm360035 3 154011573 [T/C] NM_001114397,NM_020865 DHX36,DHX36 EXON Missense_R531Q,Missense_R545Q exm360045 3 154018780 [T/C] NM_001114397,NM_020865 DHX36,DHX36 EXON Missense_R452G,Missense_R452G exm360047 3 154018788 [T/C] NM_001114397,NM_020865 DHX36,DHX36 EXON Missense_E449G,Missense_E449G exm360051 3 154018887 [G/C] NM_001114397,NM_020865 DHX36,DHX36 EXON Missense_S416C,Missense_S416C exm360071 3 154032856 [T/G] NM_001114397,NM_020865 DHX36,DHX36 EXON Missense_D194E,Missense_D194E exm360098 3 154055656 [A/C] NM_001038705 GPR149 EXON Missense_L676F exm360100 3 154055726 [T/C] NM_001038705 GPR149 EXON Missense_R653H exm360110 3 154055990 [T/C] NM_001038705 GPR149 EXON Missense_G565E exm360121 3 154138979 [T/G] NM_001038705 GPR149 EXON Missense_A491E exm360124 3 154139047 [T/G] NM_001038705 GPR149 EXON Missense_R468S exm360130 3 154139182 [A/C] NM_001038705 GPR149 EXON Missense_N423K exm360133 3 154139275 [T/G] NM_001038705 GPR149 EXON Synonymous_I392I exm2264013 3 154144067 [A/C] NM_001038705 GPR149 Silent exm360149 3 154146545 [A/G] NM_001038705 GPR149 EXON Missense_A287V exm360180 3 154147072 [T/C] NM_001038705 GPR149 EXON Missense_M111I exm360200 3 154147380 [A/C] NM_001038705 GPR149 EXON Missense_S9A exm360201 3 154147404 [T/G] NM_001038705 GPR149 EXON Missense_M1L exm2269680 3 154405414 [T/C] exm2255782 3 154726215 [T/G] exm360204 3 154801978 [A/G] NM_000902,NM_007287,NM_007288,NM_007289 MME,MME,MME,MME EXON Missense_M8V,Missense_M8V,Missense_M8V,Missense_M8V exm360214 3 154802095 [A/G] NM_000902,NM_007287,NM_007288,NM_007289 MME,MME,MME,MME EXON Missense_A47T,Missense_A47T,Missense_A47T,Missense_A47T exm360222 3 154832803 [A/G] NM_000902,NM_007287,NM_007288,NM_007289 MME,MME,MME,MME EXON Missense_M73V,Missense_M73V,Missense_M73V,Missense_M73V exm360234 3 154834451 [A/C] NM_000902,NM_007287,NM_007288,NM_007289 MME,MME,MME,MME Silent,Silent,Silent,Silent exm360241 3 154836554 [C/G] NM_000902,NM_007287,NM_007288,NM_007289 MME,MME,MME,MME EXON Missense_G225A,Missense_G225A,Missense_G225A,Missense_G225A exm360252 3 154857998 [A/G] NM_000902,NM_007287,NM_007288,NM_007289 MME,MME,MME,MME EXON Missense_D292N,Missense_D292N,Missense_D292N,Missense_D292N exm360257 3 154859855 [A/G] NM_000902,NM_007287,NM_007288,NM_007289 MME,MME,MME,MME EXON Missense_V345I,Missense_V345I,Missense_V345I,Missense_V345I exm360259 3 154859862 [A/G] NM_000902,NM_007287,NM_007288,NM_007289 MME,MME,MME,MME EXON Missense_Y347C,Missense_Y347C,Missense_Y347C,Missense_Y347C exm360263 3 154860064 [T/A] NM_000902,NM_007287,NM_007288,NM_007289 MME,MME,MME,MME EXON Missense_D378V,Missense_D378V,Missense_D378V,Missense_D378V exm360265 3 154860085 [A/G] NM_000902,NM_007287,NM_007288,NM_007289 MME,MME,MME,MME EXON Missense_R385Q,Missense_R385Q,Missense_R385Q,Missense_R385Q exm360271 3 154861298 [A/C] NM_000902,NM_007287,NM_007288,NM_007289 MME,MME,MME,MME EXON Missense_M419L,Missense_M419L,Missense_M419L,Missense_M419L exm2042011 3 154884808 [A/G] NM_000902,NM_007287,NM_007288,NM_007289 MME,MME,MME,MME EXON Missense_N593S,Missense_N593S,Missense_N593S,Missense_N593S exm2042013 3 154886414 [T/C] NM_000902,NM_007287,NM_007288,NM_007289 MME,MME,MME,MME EXON Synonymous_H638H,Synonymous_H638H,Synonymous_H638H,Synonymous_H638H exm2255783 3 154886556 [T/A] NM_000902,NM_007287,NM_007288,NM_007289 MME,MME,MME,MME EXON Synonymous_A650A,Synonymous_A650A,Synonymous_A650A,Synonymous_A650A exm360319 3 154898228 [A/G] NM_000902,NM_007287,NM_007288,NM_007289 MME,MME,MME,MME EXON Missense_K745E,Missense_K745E,Missense_K745E,Missense_K745E exm360320 3 154898237 [T/C] NM_000902,NM_007287,NM_007288,NM_007289 MME,MME,MME,MME EXON Missense_R748W,Missense_R748W,Missense_R748W,Missense_R748W exm360323 3 155198866 [A/G] NM_014996,NM_001130961,NM_001130960 PLCH1,PLCH1,PLCH1 EXON Missense_T1620M,Silent,Missense_T1658M exm2042048 3 155198933 [A/C] NM_014996,NM_001130961,NM_001130960 PLCH1,PLCH1,PLCH1 EXON Missense_A1598S,Silent,Missense_A1636S exm360330 3 155198984 [T/G] NM_014996,NM_001130961,NM_001130960 PLCH1,PLCH1,PLCH1 EXON Missense_P1581T,Silent,Missense_P1619T exm360339 3 155199079 [T/C] NM_014996,NM_001130961,NM_001130960 PLCH1,PLCH1,PLCH1 EXON Missense_R1549H,Silent,Missense_R1587H exm360341 3 155199155 [A/G] NM_014996,NM_001130961,NM_001130960 PLCH1,PLCH1,PLCH1 EXON Missense_Y1524H,Silent,Missense_Y1562H exm2255784 3 155199480 [T/C] NM_014996,NM_001130961,NM_001130960 PLCH1,PLCH1,PLCH1 EXON Synonymous_K1415K,Silent,Synonymous_K1453K exm360353 3 155199598 [T/C] NM_014996,NM_001130961,NM_001130960 PLCH1,PLCH1,PLCH1 EXON Missense_R1376H,Silent,Missense_R1414H exm360367 3 155200118 [T/C] NM_014996,NM_001130961,NM_001130960 PLCH1,PLCH1,PLCH1 EXON Missense_G1203S,Silent,Missense_G1241S exm360368 3 155200133 [T/C] NM_014996,NM_001130961,NM_001130960 PLCH1,PLCH1,PLCH1 EXON Missense_M1198V,Silent,Missense_M1236V exm2042059 3 155200227 [T/A] NM_014996,NM_001130961,NM_001130960 PLCH1,PLCH1,PLCH1 EXON Missense_D1166E,Silent,Missense_D1204E exm360374 3 155200240 [A/G] NM_014996,NM_001130961,NM_001130960 PLCH1,PLCH1,PLCH1 EXON Missense_I1162T,Silent,Missense_I1200T exm360377 3 155200344 [T/G] NM_014996,NM_001130961,NM_001130960 PLCH1,PLCH1,PLCH1 EXON Missense_D1127E,Silent,Missense_D1165E exm360383 3 155200502 [A/G] NM_014996,NM_001130961,NM_001130960 PLCH1,PLCH1,PLCH1 EXON Missense_P1075S,Silent,Missense_P1113S exm360384 3 155200562 [T/C] NM_014996,NM_001130961,NM_001130960 PLCH1,PLCH1,PLCH1 EXON Missense_D1055N,Silent,Missense_D1093N exm360387 3 155200652 [T/C] NM_014996,NM_001130961,NM_001130960 PLCH1,PLCH1,PLCH1 EXON Missense_G1025S,Silent,Missense_G1063S exm360393 3 155203168 [A/G] NM_014996,NM_001130961,NM_001130960 PLCH1,PLCH1,PLCH1 EXON Missense_I954T,Missense_I992T,Missense_I992T exm360395 3 155203193 [A/G] NM_014996,NM_001130961,NM_001130960 PLCH1,PLCH1,PLCH1 EXON Missense_P946S,Missense_P984S,Missense_P984S exm360398 3 155203301 [T/C] NM_014996,NM_001130961,NM_001130960 PLCH1,PLCH1,PLCH1 EXON Missense_E910K,Missense_E948K,Missense_E948K exm360414 3 155210598 [T/G] NM_014996,NM_001130961,NM_001130960 PLCH1,PLCH1,PLCH1 EXON Missense_K713Q,Missense_K731Q,Missense_K731Q exm360430 3 155222375 [T/C] NM_014996,NM_001130961,NM_001130960 PLCH1,PLCH1,PLCH1 EXON Missense_R528Q,Missense_R546Q,Missense_R546Q exm360436 3 155232515 [G/C] NM_014996,NM_001130961,NM_001130960 PLCH1,PLCH1,PLCH1 EXON Missense_K513N,Missense_K531N,Missense_K531N exm360439 3 155232543 [A/G] NM_014996,NM_001130961,NM_001130960 PLCH1,PLCH1,PLCH1 EXON Missense_T504M,Missense_T522M,Missense_T522M exm360444 3 155241691 [A/G] NM_014996,NM_001130961,NM_001130960 PLCH1,PLCH1,PLCH1 EXON Missense_H459Y,Missense_H477Y,Missense_H477Y exm2042091 3 155267674 [G/C] NM_014996,NM_001130961,NM_001130960 PLCH1,PLCH1,PLCH1 EXON Missense_G392R,Missense_G410R,Missense_G410R exm360491 3 155311937 [T/C] NM_014996,NM_001130961,NM_001130960 PLCH1,PLCH1,PLCH1 EXON Missense_R58Q,Missense_R76Q,Missense_R76Q exm360499 3 155314113 [T/C] NM_014996,NM_001130961,NM_001130960 PLCH1,PLCH1,PLCH1 EXON Missense_R15H,Missense_R33H,Missense_R33H exm360500 3 155314114 [A/G] NM_014996,NM_001130961,NM_001130960 PLCH1,PLCH1,PLCH1 EXON Missense_R15C,Missense_R33C,Missense_R33C exm2255785 3 155424575 [A/G] exm360501 3 155481319 [T/C] NM_173657 C3orf33 EXON Missense_R248H exm360502 3 155481320 [A/G] NM_173657 C3orf33 EXON Missense_R248C exm360505 3 155481368 [A/G] NM_173657 C3orf33 EXON Missense_C232R exm360506 3 155481440 [T/G] NM_173657 C3orf33 EXON Missense_S208R exm360507 3 155481454 [T/G] NM_173657 C3orf33 EXON Missense_T203K exm360508 3 155481483 [T/C] NM_173657 C3orf33 EXON Missense_I193M exm360513 3 155485302 [T/C] NM_173657 C3orf33 EXON Missense_S117N exm2238835 3 155485309 [G/C] NM_173657 C3orf33 EXON Missense_L115V exm360516 3 155485450 [A/G] NM_173657 C3orf33 EXON Missense_R68C exm360518 3 155493498 [A/G] NM_173657 C3orf33 EXON Missense_S62L exm360527 3 155520356 [T/C] NM_173657 C3orf33 EXON Missense_A4T exm360537 3 155547508 [T/G] NM_001190992,NM_004733 SLC33A1,SLC33A1 EXON Missense_N484T,Missense_N484T exm2269681 3 155548882 [T/G] NM_001190992,NM_004733 SLC33A1,SLC33A1 Silent,Silent exm2042129 3 155560337 [T/C] NM_001190992,NM_004733 SLC33A1,SLC33A1 EXON Missense_E283K,Missense_E283K exm360571 3 155571275 [T/C] NM_001190992,NM_004733 SLC33A1,SLC33A1 EXON Missense_D171G,Missense_D171G exm360574 3 155571387 [C/G] NM_001190992,NM_004733 SLC33A1,SLC33A1 EXON Missense_V134L,Missense_V134L exm2255786 3 155571610 [A/G] NM_001190992,NM_004733 SLC33A1,SLC33A1 EXON Synonymous_G59G,Synonymous_G59G exm360582 3 155571618 [G/C] NM_001190992,NM_004733 SLC33A1,SLC33A1 EXON Missense_G57R,Missense_G57R exm360585 3 155571651 [T/C] NM_001190992,NM_004733 SLC33A1,SLC33A1 EXON Missense_E46K,Missense_E46K exm360602 3 155615783 [A/G] NM_003875 GMPS EXON Missense_I93V exm360603 3 155615785 [A/G] NM_003875 GMPS EXON Missense_I93M exm360619 3 155628652 [G/C] NM_003875 GMPS EXON Missense_R233T exm360637 3 155649576 [A/C] NM_003875 GMPS EXON Missense_Y528S exm360645 3 155838485 [C/G] NM_172160 KCNAB1 EXON Missense_A29P exm360646 3 155838488 [C/G] NM_172160 KCNAB1 EXON Missense_G30R exm360647 3 155838501 [C/G] NM_172160 KCNAB1 EXON Missense_S34C exm360653 3 155838591 [A/G] NM_172160 KCNAB1 EXON Missense_R64H exm2273975 3 155838607 [C/G] NM_172160 KCNAB1 EXON Missense_N69K exm360669 3 155861152 [A/G] NM_172160,NM_003471 KCNAB1,KCNAB1 EXON Silent,Missense_R62H exm360672 3 155861194 [T/C] NM_172160,NM_003471 KCNAB1,KCNAB1 EXON Silent,Missense_T76M exm360674 3 155861197 [T/G] NM_172160,NM_003471 KCNAB1,KCNAB1 EXON Silent,Missense_G77V exm2255788 3 156157738 [T/C] NM_172160,NM_003471,NM_172159 KCNAB1,KCNAB1,KCNAB1 Silent,Silent,Silent exm360718 3 156234060 [T/G] NM_172160,NM_003471,NM_172159 KCNAB1,KCNAB1,KCNAB1 EXON Synonymous_G289G,Synonymous_G278G,Synonymous_G271G exm360725 3 156241691 [G/C] NM_172160,NM_003471,NM_172159 KCNAB1,KCNAB1,KCNAB1 EXON Missense_P346A,Missense_P335A,Missense_P328A exm360729 3 156249254 [G/C] NM_172160,NM_003471,NM_172159 KCNAB1,KCNAB1,KCNAB1 EXON Missense_E380Q,Missense_E369Q,Missense_E362Q exm360780 3 156395848 [T/C] NM_015508,NM_001184717,NM_001184718 TIPARP,TIPARP,TIPARP EXON Missense_I121T,Missense_I121T,Missense_I121T exm360783 3 156395884 [A/G] NM_015508,NM_001184717,NM_001184718 TIPARP,TIPARP,TIPARP EXON Missense_R133Q,Missense_R133Q,Missense_R133Q exm360794 3 156396123 [A/G] NM_015508,NM_001184717,NM_001184718 TIPARP,TIPARP,TIPARP EXON Missense_D213N,Missense_D213N,Missense_D213N exm-rs2665390 3 156397749 [T/C] NM_015508,NM_001184717,NM_001184718 TIPARP,TIPARP,TIPARP Silent,Silent,Silent exm360809 3 156411975 [A/G] NM_015508,NM_001184717,NM_001184718 TIPARP,TIPARP,TIPARP EXON Missense_E362K,Missense_E362K,Missense_E362K exm360812 3 156413682 [A/C] NM_015508,NM_001184717,NM_001184718 TIPARP,TIPARP,TIPARP EXON Missense_N372T,Missense_N372T,Missense_N372T exm360820 3 156421238 [C/G] NM_015508,NM_001184717,NM_001184718 TIPARP,TIPARP,TIPARP EXON Missense_A425P,Missense_A425P,Missense_A425P exm360823 3 156421401 [A/G] NM_015508,NM_001184717,NM_001184718 TIPARP,TIPARP,TIPARP EXON Missense_N479S,Missense_N479S,Missense_N479S exm360834 3 156422507 [T/C] NM_015508,NM_001184717,NM_001184718 TIPARP,TIPARP,TIPARP EXON Missense_R521C,Missense_R521C,Missense_R521C exm360847 3 156570680 [A/G] NM_001004316,NM_001193283 LEKR1,LEKR1 EXON Missense_V58I,Missense_V58I exm-rs12638253 3 156626091 [T/C] NM_001004316,NM_001193283 LEKR1,LEKR1 Silent,Silent exm360856 3 156697028 [T/C] NM_001004316 LEKR1 EXON Missense_A264V exm360857 3 156697059 [C/G] NM_001004316 LEKR1 EXON Missense_M274I exm360859 3 156710969 [A/C] NM_001004316 LEKR1 EXON Missense_I338L exm360868 3 156745976 [T/C] NM_001004316 LEKR1 EXON Missense_R485W exm360881 3 156763196 [C/G] NM_001004316 LEKR1 EXON Missense_S579T exm360887 3 156763332 [A/C] NM_001004316 LEKR1 EXON Missense_R624S exm360891 3 156763370 [A/G] NM_001004316 LEKR1 EXON Missense_R637H exm360894 3 156763405 [T/G] NM_001004316 LEKR1 EXON Missense_D649Y exm360895 3 156763427 [C/G] NM_001004316 LEKR1 EXON Nonsense_S656X exm360896 3 156763438 [A/G] NM_001004316 LEKR1 EXON Missense_I660V exm-rs900399 3 156798732 [A/G] exm-rs900400 3 156798775 [T/C] exm-rs13064954 3 156854742 [A/G] exm2269556 3 156862145 [T/C] exm360910 3 156866176 [A/G] NM_020307 CCNL1 EXON Missense_R479W exm2255792 3 156866201 [A/G] NM_020307 CCNL1 EXON Synonymous_S470S exm360917 3 156867134 [G/C] NM_020307 CCNL1 EXON Missense_A392P exm360920 3 156867365 [T/C] NM_020307 CCNL1 EXON Missense_A348T exm360944 3 156876659 [T/C] NM_020307 CCNL1 EXON Missense_K162E exm360947 3 156876748 [A/C] NM_020307 CCNL1 EXON Missense_C132F exm-rs9866141 3 156950579 [T/C] exm360975 3 156978981 [T/C] NM_001167911,NM_024621,NM_001167912 VEPH1,VEPH1,VEPH1 EXON Missense_N770S,Missense_N815S,Missense_N815S exm360981 3 156979068 [T/C] NM_001167911,NM_024621,NM_001167912 VEPH1,VEPH1,VEPH1 EXON Missense_R741Q,Missense_R786Q,Missense_R786Q exm2042330 3 156979077 [C/G] NM_001167911,NM_024621,NM_001167912 VEPH1,VEPH1,VEPH1 EXON Missense_S738C,Missense_S783C,Missense_S783C exm360984 3 156979089 [T/C] NM_001167911,NM_024621,NM_001167912 VEPH1,VEPH1,VEPH1 EXON Missense_R734H,Missense_R779H,Missense_R779H exm361003 3 157034904 [A/G] NM_001167911,NM_024621,NM_001167912 VEPH1,VEPH1,VEPH1 EXON Missense_L608F,Missense_L608F,Missense_L608F exm361004 3 157034921 [T/C] NM_001167911,NM_024621,NM_001167912 VEPH1,VEPH1,VEPH1 EXON Missense_S602N,Missense_S602N,Missense_S602N exm2042339 3 157034929 [A/G] NM_001167911,NM_024621,NM_001167912 VEPH1,VEPH1,VEPH1 EXON Synonymous_C599C,Synonymous_C599C,Synonymous_C599C exm2255793 3 157081214 [T/C] NM_001167911,NM_024621,NM_001167912 VEPH1,VEPH1,VEPH1 EXON Synonymous_V558V,Synonymous_V558V,Synonymous_V558V exm361014 3 157081278 [A/G] NM_001167911,NM_024621,NM_001167912 VEPH1,VEPH1,VEPH1 EXON Missense_T537I,Missense_T537I,Missense_T537I exm361017 3 157081324 [A/G] NM_001167911,NM_024621,NM_001167912 VEPH1,VEPH1,VEPH1 EXON Missense_S522P,Missense_S522P,Missense_S522P exm361019 3 157081352 [A/T] NM_001167911,NM_024621,NM_001167912 VEPH1,VEPH1,VEPH1 EXON Missense_N512K,Missense_N512K,Missense_N512K exm361020 3 157081353 [A/T] NM_001167911,NM_024621,NM_001167912 VEPH1,VEPH1,VEPH1 EXON Missense_N512I,Missense_N512I,Missense_N512I exm361021 3 157081360 [A/G] NM_001167911,NM_024621,NM_001167912 VEPH1,VEPH1,VEPH1 EXON Missense_Y510H,Missense_Y510H,Missense_Y510H exm361022 3 157081386 [A/G] NM_001167911,NM_024621,NM_001167912 VEPH1,VEPH1,VEPH1 EXON Missense_S501L,Missense_S501L,Missense_S501L exm361023 3 157081389 [T/C] NM_001167911,NM_024621,NM_001167912 VEPH1,VEPH1,VEPH1 EXON Missense_R500K,Missense_R500K,Missense_R500K exm361029 3 157081492 [T/C] NM_001167911,NM_024621,NM_001167912 VEPH1,VEPH1,VEPH1 EXON Missense_E466K,Missense_E466K,Missense_E466K exm361030 3 157081495 [T/C] NM_001167911,NM_024621,NM_001167912 VEPH1,VEPH1,VEPH1 EXON Missense_G465S,Missense_G465S,Missense_G465S exm361032 3 157081510 [T/C] NM_001167911,NM_024621,NM_001167912 VEPH1,VEPH1,VEPH1 EXON Missense_V460M,Missense_V460M,Missense_V460M exm361041 3 157098978 [T/C] NM_001167911,NM_024621,NM_001167912 VEPH1,VEPH1,VEPH1 EXON Missense_R365Q,Missense_R365Q,Missense_R365Q exm361045 3 157099025 [G/C] NM_001167911,NM_024621,NM_001167912 VEPH1,VEPH1,VEPH1 EXON Missense_I349M,Missense_I349M,Missense_I349M exm361047 3 157099066 [T/C] NM_001167911,NM_024621,NM_001167912 VEPH1,VEPH1,VEPH1 EXON Missense_D336N,Missense_D336N,Missense_D336N exm2255794 3 157099090 [A/G] NM_001167911,NM_024621,NM_001167912 VEPH1,VEPH1,VEPH1 EXON Synonymous_L328L,Synonymous_L328L,Synonymous_L328L exm361048 3 157099090 [A/G] NM_001167911,NM_024621,NM_001167912 VEPH1,VEPH1,VEPH1 EXON Synonymous_L328L,Synonymous_L328L,Synonymous_L328L exm361050 3 157099117 [T/C] NM_001167911,NM_024621,NM_001167912 VEPH1,VEPH1,VEPH1 EXON Missense_M319V,Missense_M319V,Missense_M319V exm361053 3 157131706 [T/C] NM_001167911,NM_024621,NM_001167912 VEPH1,VEPH1,VEPH1 EXON Missense_M290I,Missense_M290I,Missense_M290I exm361055 3 157131751 [T/C] NM_001167911,NM_024621,NM_001167912 VEPH1,VEPH1,VEPH1 EXON Missense_M275I,Missense_M275I,Missense_M275I exm361056 3 157131765 [A/T] NM_001167911,NM_024621,NM_001167912 VEPH1,VEPH1,VEPH1 EXON Missense_S271C,Missense_S271C,Missense_S271C exm361058 3 157131788 [A/C] NM_001167911,NM_024621,NM_001167912 VEPH1,VEPH1,VEPH1 EXON Missense_V263G,Missense_V263G,Missense_V263G exm361061 3 157131819 [A/T] NM_001167911,NM_024621,NM_001167912 VEPH1,VEPH1,VEPH1 EXON Missense_I253F,Missense_I253F,Missense_I253F exm361063 3 157131858 [A/G] NM_001167911,NM_024621,NM_001167912 VEPH1,VEPH1,VEPH1 EXON Missense_F240L,Missense_F240L,Missense_F240L exm361065 3 157146149 [A/G] NM_001167911,NM_024621,NM_001167912 VEPH1,VEPH1,VEPH1 EXON Missense_R220W,Missense_R220W,Missense_R220W exm361067 3 157146184 [G/C] NM_001167911,NM_024621,NM_001167912 VEPH1,VEPH1,VEPH1 EXON Missense_S208C,Missense_S208C,Missense_S208C exm361068 3 157146186 [T/C] NM_001167911,NM_024621,NM_001167912 VEPH1,VEPH1,VEPH1 EXON Missense_M207I,Missense_M207I,Missense_M207I exm361069 3 157146268 [A/G] NM_001167911,NM_024621,NM_001167912 VEPH1,VEPH1,VEPH1 EXON Missense_M180T,Missense_M180T,Missense_M180T exm361078 3 157154839 [T/G] NM_001167911,NM_024621,NM_001167912,NM_002852 VEPH1,VEPH1,VEPH1,PTX3 EXON Silent,Silent,Silent,Missense_H39Q exm361082 3 157155314 [A/C] NM_001167911,NM_024621,NM_001167912,NM_002852 VEPH1,VEPH1,VEPH1,PTX3 EXON Silent,Silent,Silent,Missense_A48D exm361087 3 157155419 [G/C] NM_001167911,NM_024621,NM_001167912,NM_002852 VEPH1,VEPH1,VEPH1,PTX3 EXON Silent,Silent,Silent,Missense_G83A exm361096 3 157155702 [T/A] NM_001167911,NM_024621,NM_001167912,NM_002852 VEPH1,VEPH1,VEPH1,PTX3 EXON Silent,Silent,Silent,Synonymous_A177A exm361109 3 157160530 [G/C] NM_001167911,NM_024621,NM_001167912,NM_002852 VEPH1,VEPH1,VEPH1,PTX3 EXON Silent,Silent,Silent,Missense_P303R exm361119 3 157160701 [A/G] NM_001167911,NM_024621,NM_001167912,NM_002852 VEPH1,VEPH1,VEPH1,PTX3 EXON Silent,Silent,Silent,Missense_R360Q exm2273380 3 157161305 [A/G] NM_001167911,NM_024621,NM_001167912,NM_002852 VEPH1,VEPH1,VEPH1,PTX3 EXON Silent,Silent,Silent,Silent exm361128 3 157178026 [T/G] NM_001167911,NM_024621,NM_001167912,NM_001167915,NM_001167916,NM_001167917 VEPH1,VEPH1,VEPH1,VEPH1,VEPH1,VEPH1 EXON Missense_T158N,Missense_T158N,Missense_T158N,Missense_T158N,Missense_T158N,Missense_T158N exm361132 3 157178134 [T/C] NM_001167911,NM_024621,NM_001167912,NM_001167915,NM_001167916,NM_001167917 VEPH1,VEPH1,VEPH1,VEPH1,VEPH1,VEPH1 EXON Missense_R122Q,Missense_R122Q,Missense_R122Q,Missense_R122Q,Missense_R122Q,Missense_R122Q exm361137 3 157188170 [A/G] NM_001167911,NM_024621,NM_001167912,NM_001167915,NM_001167916,NM_001167917 VEPH1,VEPH1,VEPH1,VEPH1,VEPH1,VEPH1 EXON Missense_P96L,Missense_P96L,Missense_P96L,Missense_P96L,Missense_P96L,Missense_P96L exm361143 3 157213093 [A/G] NM_001167911,NM_024621,NM_001167912,NM_001167915,NM_001167916,NM_001167917 VEPH1,VEPH1,VEPH1,VEPH1,VEPH1,VEPH1 EXON Nonsense_R16X,Nonsense_R16X,Nonsense_R16X,Nonsense_R16X,Nonsense_R16X,Nonsense_R16X exm361148 3 157271056 [T/G] NM_001243729,NM_001099777,NR_024016,NM_001130001,NM_001130002 C3orf55,C3orf55,C3orf55,C3orf55,C3orf55 EXON Missense_V4L,Missense_V4L,Silent,Missense_V4L,Missense_V4L exm361149 3 157271099 [T/C] NM_001243729,NM_001099777,NR_024016,NM_001130001,NM_001130002 C3orf55,C3orf55,C3orf55,C3orf55,C3orf55 EXON Missense_T18M,Missense_T18M,Silent,Missense_T18M,Missense_T18M exm361155 3 157289766 [T/C] NM_001243729,NM_001099777,NM_001130001,NM_001130002 C3orf55,C3orf55,C3orf55,C3orf55 EXON Silent,Missense_M79T,Silent,Missense_M79T exm361164 3 157318084 [A/G] NM_001130001,NM_001130002 C3orf55,C3orf55 EXON Missense_I106V,Synonymous_R135R exm2255795 3 157375087 [A/C] exm2265632 3 157386185 [A/G] exm-rs9845687 3 157682536 [T/C] exm361187 3 157817705 [T/C] NM_001163678,NM_006884,NM_003030 SHOX2,SHOX2,SHOX2 EXON Missense_A216T,Missense_A216T,Missense_A240T exm361228 3 157839955 [A/G] NM_001271834,NM_001271838,NM_016625 RSRC1,RSRC1,RSRC1 EXON Missense_R21H,Missense_R21H,Missense_R21H exm361231 3 157840065 [T/C] NM_001271834,NM_001271838,NM_016625 RSRC1,RSRC1,RSRC1 EXON Missense_R58C,Missense_R58C,Missense_R58C exm361238 3 157841743 [A/G] NM_001271834,NM_001271838,NM_016625 RSRC1,RSRC1,RSRC1 EXON Missense_R95G,Missense_R95G,Missense_R95G exm361239 3 157841771 [T/G] NM_001271834,NM_001271838,NM_016625 RSRC1,RSRC1,RSRC1 EXON Missense_R104I,Missense_R104I,Missense_R104I exm361242 3 157920895 [T/C] NM_001271834,NM_001271838,NM_016625 RSRC1,RSRC1,RSRC1 EXON Silent,Missense_R119C,Missense_R119C exm361246 3 157920934 [T/C] NM_001271834,NM_001271838,NM_016625 RSRC1,RSRC1,RSRC1 EXON Silent,Missense_R132W,Missense_R132W exm361247 3 157920983 [A/G] NM_001271834,NM_001271838,NM_016625 RSRC1,RSRC1,RSRC1 EXON Silent,Missense_E148G,Missense_E148G exm361251 3 157921022 [A/G] NM_001271834,NM_001271838,NM_016625 RSRC1,RSRC1,RSRC1 EXON Silent,Missense_N161S,Missense_N161S exm-rs7643792 3 157992814 [A/G] NM_001271834,NM_001271838,NM_016625 RSRC1,RSRC1,RSRC1 Silent,Silent,Silent exm2265515 3 158104706 [A/G] NM_001271834,NM_001271838,NM_016625 RSRC1,RSRC1,RSRC1 Silent,Silent,Silent exm2265633 3 158172592 [A/G] NM_001271834,NM_001271838,NM_016625 RSRC1,RSRC1,RSRC1 Silent,Silent,Silent exm361271 3 158261981 [A/G] NM_001271834,NM_001271838,NM_016625 RSRC1,RSRC1,RSRC1 EXON Missense_E250K,Missense_E308K,Missense_E308K exm361286 3 158310353 [T/G] NM_001130156,NM_022443,NM_001195434,NM_001195433,NM_001195432,NM_001130157 MLF1,MLF1,MLF1,MLF1,MLF1,MLF1 EXON Missense_G35C,Missense_G60C,Missense_G35C,Missense_G35C,Missense_G76C,Missense_G35C exm361292 3 158314689 [A/G] NM_001130156,NM_022443,NM_001195434,NM_001195433,NM_001195432,NM_001130157 MLF1,MLF1,MLF1,MLF1,MLF1,MLF1 EXON Missense_M53I,Missense_M78I,Missense_M68I,Missense_M53I,Missense_M109I,Missense_M53I exm361295 3 158314721 [A/T] NM_001130156,NM_022443,NM_001195434,NM_001195433,NM_001195432,NM_001130157 MLF1,MLF1,MLF1,MLF1,MLF1,MLF1 EXON Nonsense_L64X,Nonsense_L89X,Nonsense_L79X,Nonsense_L64X,Nonsense_L120X,Nonsense_L64X exm2042502 3 158315984 [A/G] NM_001130156,NM_022443,NM_001195434,NM_001195433,NM_001195432,NM_001130157 MLF1,MLF1,MLF1,MLF1,MLF1,MLF1 EXON Missense_R107Q,Missense_R132Q,Missense_R122Q,Silent,Missense_R163Q,Missense_R107Q exm361302 3 158317821 [A/G] NM_001130156,NM_022443,NM_001195434,NM_001195433,NM_001195432,NM_001130157 MLF1,MLF1,MLF1,MLF1,MLF1,MLF1 EXON Missense_A118T,Missense_A143T,Missense_A133T,Missense_A75T,Missense_A174T,Missense_A118T exm361308 3 158320597 [T/C] NM_001130156,NM_022443,NM_001195434,NM_001195433,NM_001195432,NM_001130157 MLF1,MLF1,MLF1,MLF1,MLF1,MLF1 EXON Synonymous_S165S,Synonymous_S190S,Synonymous_S180S,Synonymous_S122S,Synonymous_S221S,Synonymous_S165S exm361315 3 158320703 [A/C] NM_001130156,NM_022443,NM_001195434,NM_001195433,NM_001195432,NM_001130157 MLF1,MLF1,MLF1,MLF1,MLF1,MLF1 EXON Missense_P201T,Missense_P226T,Missense_P216T,Missense_P158T,Missense_P257T,Missense_P201T exm2042507 3 158320712 [T/C] NM_001130156,NM_022443,NM_001195434,NM_001195433,NM_001195432,NM_001130157 MLF1,MLF1,MLF1,MLF1,MLF1,MLF1 EXON Nonsense_R204X,Nonsense_R229X,Nonsense_R219X,Nonsense_R161X,Nonsense_R260X,Nonsense_R204X exm361318 3 158322934 [A/T] NM_001130156,NM_022443,NM_001195434,NM_001195433,NM_001195432,NM_001130157 MLF1,MLF1,MLF1,MLF1,MLF1,MLF1 EXON Missense_N225K,Missense_N250K,Missense_N240K,Missense_N182K,Missense_N281K,Missense_N225K exm361326 3 158363463 [A/G] NM_024996 GFM1 EXON Missense_N43D exm361328 3 158363556 [T/G] NM_024996 GFM1 EXON Missense_A74S exm2042518 3 158364636 [T/G] NM_024996 GFM1 EXON Missense_V158F exm361336 3 158364640 [A/G] NM_024996 GFM1 EXON Missense_N159S exm361338 3 158364654 [T/C] NM_024996 GFM1 EXON Missense_R164C exm361339 3 158364655 [A/G] NM_024996 GFM1 EXON Missense_R164H exm361343 3 158364732 [A/C] NM_024996 GFM1 EXON Missense_M190L exm361345 3 158366853 [T/C] NM_024996 GFM1 EXON Missense_A199V exm2238858 3 158366879 [A/G] NM_024996 GFM1 EXON Missense_E208K exm361349 3 158366900 [A/G] NM_024996 GFM1 EXON Missense_V215I exm361350 3 158366924 [A/G] NM_024996 GFM1 EXON Missense_I223V exm361354 3 158369926 [T/C] NM_024996 GFM1 EXON Missense_A244V exm361357 3 158369983 [A/G] NM_024996 GFM1 EXON Missense_Q263R exm2255798 3 158378752 [T/C] NM_024996 GFM1 EXON Synonymous_S437S exm361383 3 158380436 [A/G] NM_024996 GFM1 EXON Missense_D448G exm2238860 3 158383160 [A/G] NM_024996 GFM1 EXON Missense_R472K exm361386 3 158383162 [T/G] NM_024996 GFM1 EXON Missense_F473V exm361388 3 158383202 [T/C] NM_024996 GFM1 EXON Missense_T486I exm2255799 3 158384167 [T/C] NM_024996 GFM1 EXON Synonymous_A531A exm361398 3 158384463 [T/C] NM_024996,NM_020169 GFM1,LXN EXON Silent,Missense_R214H exm361400 3 158384811 [A/G] NM_024996,NM_020169 GFM1,LXN EXON Silent,Missense_I187T exm361409 3 158386886 [T/C] NM_024996,NM_020169 GFM1,LXN EXON Silent,Missense_V136I exm361410 3 158386891 [A/G] NM_024996,NM_020169 GFM1,LXN EXON Silent,Missense_T134M exm2238861 3 158387242 [A/G] NM_024996,NM_020169 GFM1,LXN EXON Silent,Missense_L117P exm361418 3 158387350 [T/C] NM_024996,NM_020169 GFM1,LXN EXON Silent,Missense_Q81R exm361429 3 158388751 [T/G] NM_024996,NM_020169 GFM1,LXN EXON Silent,Missense_Q63K exm361431 3 158388780 [T/C] NM_024996,NM_020169 GFM1,LXN EXON Silent,Missense_H53R exm361432 3 158388795 [T/C] NM_024996,NM_020169 GFM1,LXN EXON Silent,Missense_R48K exm361435 3 158390222 [T/C] NM_024996,NM_020169 GFM1,LXN EXON Silent,Missense_V16M exm361436 3 158390230 [A/G] NM_024996,NM_020169 GFM1,LXN EXON Silent,Missense_A13V exm361454 3 158407990 [A/G] NM_024996 GFM1 EXON Missense_M650V exm361459 3 158408032 [A/G] NM_024996 GFM1 EXON Missense_V664I exm361465 3 158409143 [A/G] NM_024996 GFM1 EXON Missense_M715V exm361485 3 158422600 [A/G] NM_206963,NM_002888 RARRES1,RARRES1 EXON Missense_L218F,Missense_L218F exm361492 3 158428589 [A/T] NM_206963,NM_002888 RARRES1,RARRES1 EXON Missense_D158V,Missense_D158V exm361493 3 158428602 [T/C] NM_206963,NM_002888 RARRES1,RARRES1 EXON Missense_R154G,Missense_R154G exm361499 3 158428637 [T/C] NM_206963,NM_002888 RARRES1,RARRES1 EXON Missense_N142S,Missense_N142S exm361504 3 158428700 [A/C] NM_206963,NM_002888 RARRES1,RARRES1 EXON Missense_G121V,Missense_G121V exm2269557 3 158429009 [T/C] NM_206963,NM_002888 RARRES1,RARRES1 Silent,Silent exm361526 3 158519861 [T/G] NM_022736,NM_001167903 MFSD1,MFSD1 EXON Missense_L23V,Missense_L23V exm361538 3 158523170 [T/C] NM_022736,NM_001167903 MFSD1,MFSD1 EXON Missense_T128M,Silent exm361544 3 158523262 [T/C] NM_022736,NM_001167903 MFSD1,MFSD1 EXON Nonsense_R159X,Silent exm2277250 3 158527008 [T/G] NM_022736,NM_001167903 MFSD1,MFSD1 EXON Missense_A210S,Missense_A171S exm361558 3 158531803 [A/C] NM_022736,NM_001167903 MFSD1,MFSD1 EXON Missense_E249A,Missense_E210A exm361567 3 158537443 [A/G] NM_022736,NM_001167903 MFSD1,MFSD1 EXON Missense_I269V,Missense_I230V exm361575 3 158539799 [A/T] NM_022736,NM_001167903 MFSD1,MFSD1 EXON Missense_M365K,Missense_M326K exm361596 3 158543843 [A/G] NM_022736,NM_001167903 MFSD1,MFSD1 EXON Missense_R492H,Missense_R453H exm361609 3 158970516 [T/G] NM_001042706,NM_001197113,NM_001197100,NM_001197114,NM_001042705 IQCJ,IQCJ-SCHIP1,IQCJ,IQCJ-SCHIP1,IQCJ EXON Missense_N25K,Missense_N25K,Silent,Silent,Missense_N25K exm361614 3 158980458 [A/G] NM_001042706,NM_001197113,NM_001197100,NM_001197114,NM_001042705 IQCJ,IQCJ-SCHIP1,IQCJ,IQCJ-SCHIP1,IQCJ EXON Missense_D93N,Missense_D93N,Missense_D66N,Missense_D66N,Missense_D93N exm361615 3 158983034 [T/C] NM_001197113,NM_001197100,NM_001197114,NM_001042705 IQCJ-SCHIP1,IQCJ,IQCJ-SCHIP1,IQCJ EXON Silent,Missense_P81S,Silent,Missense_P108S exm361617 3 158983091 [A/G] NM_001197113,NM_001197100,NM_001197114,NM_001042705 IQCJ-SCHIP1,IQCJ,IQCJ-SCHIP1,IQCJ EXON Silent,Missense_V100M,Silent,Missense_V127M exm361620 3 158991638 [T/C] NM_001197113,NM_001197114,NM_001197108,NM_001197107,NM_014575 IQCJ-SCHIP1,IQCJ-SCHIP1,SCHIP1,SCHIP1,SCHIP1 EXON Silent,Silent,Missense_T10M,Missense_T10M,Missense_T10M exm2269558 3 159073317 [T/C] NM_001197113,NM_001197114,NM_001197108,NM_001197107,NM_014575 IQCJ-SCHIP1,IQCJ-SCHIP1,SCHIP1,SCHIP1,SCHIP1 Silent,Silent,Silent,Silent,Silent exm-rs2222328 3 159259291 [T/C] NM_001197113,NM_001197114,NM_001197108,NM_001197107,NM_014575 IQCJ-SCHIP1,IQCJ-SCHIP1,SCHIP1,SCHIP1,SCHIP1 Silent,Silent,Silent,Silent,Silent exm361665 3 159614512 [A/G] NM_001197113,NM_001197114,NM_001197108,NM_001197107,NM_014575,NM_001197109 IQCJ-SCHIP1,IQCJ-SCHIP1,SCHIP1,SCHIP1,SCHIP1,SCHIP1 EXON Synonymous_R547R,Synonymous_R520R,Synonymous_R239R,Synonymous_R458R,Synonymous_R471R,Synonymous_R228R exm-rs17810546 3 159665050 [A/G] exm-rs4680534 3 159698945 [T/C] exm361674 3 159707972 [A/C] NM_000882 IL12A EXON Missense_T46N exm361679 3 159708079 [A/G] NM_000882 IL12A EXON Missense_V82I exm361681 3 159708100 [T/G] NM_000882 IL12A Silent exm361702 3 159713215 [A/G] NM_000882 IL12A EXON Missense_V211M exm361703 3 159713243 [T/C] NM_000882 IL12A EXON Missense_P220L exm-rs485499 3 159745863 [T/C] exm2264040 3 159822667 [A/C] exm361711 3 159943849 [T/G] NM_001168214 C3orf80 EXON Missense_A143S exm361720 3 159986266 [T/G] NM_001190241,NM_020800,NM_001190242 IFT80,IFT80,IFT80 EXON Missense_Q583K,Missense_Q720K,Missense_Q583K exm361736 3 159995412 [T/C] NM_001190241,NM_020800,NM_001190242 IFT80,IFT80,IFT80 EXON Missense_R491Q,Missense_R628Q,Missense_R491Q exm361737 3 159995431 [T/C] NM_001190241,NM_020800,NM_001190242 IFT80,IFT80,IFT80 EXON Missense_A485T,Missense_A622T,Missense_A485T exm361738 3 159997046 [T/C] NM_001190241,NM_020800,NM_001190242 IFT80,IFT80,IFT80 EXON Missense_I454V,Missense_I591V,Missense_I454V exm361739 3 159997061 [T/A] NM_001190241,NM_020800,NM_001190242 IFT80,IFT80,IFT80 EXON Missense_T449S,Missense_T586S,Missense_T449S exm361763 3 160025451 [A/G] NM_001190241,NM_020800,NM_001190242 IFT80,IFT80,IFT80 EXON Missense_S222F,Missense_S359F,Missense_S222F exm361769 3 160037568 [T/C] NM_001190241,NM_020800,NM_001190242 IFT80,IFT80,IFT80 EXON Missense_T176A,Missense_T313A,Missense_T176A exm361773 3 160037625 [T/C] NM_001190241,NM_020800,NM_001190242 IFT80,IFT80,IFT80 EXON Missense_V157I,Missense_V294I,Missense_V157I exm361775 3 160037636 [T/C] NM_001190241,NM_020800,NM_001190242 IFT80,IFT80,IFT80 EXON Missense_N153S,Missense_N290S,Missense_N153S exm361783 3 160073820 [T/C] NM_001190241,NM_020800,NM_001190242 IFT80,IFT80,IFT80 EXON Missense_R116H,Missense_R253H,Missense_R116H exm361788 3 160073857 [G/C] NM_001190241,NM_020800,NM_001190242 IFT80,IFT80,IFT80 EXON Missense_G104R,Missense_G241R,Missense_G104R exm361794 3 160073923 [T/C] NM_001190241,NM_020800,NM_001190242 IFT80,IFT80,IFT80 EXON Missense_G82S,Missense_G219S,Missense_G82S exm361812 3 160099358 [A/C] NM_001190241,NM_020800,NM_001190242 IFT80,IFT80,IFT80 EXON Silent,Missense_W64C,Silent exm361830 3 160119783 [A/G] NM_001002800,NM_005496 SMC4,SMC4 EXON Missense_T74A,Missense_T74A exm361841 3 160120601 [G/C] NM_001002800,NM_005496 SMC4,SMC4 EXON Missense_H152Q,Missense_H152Q exm361844 3 160122156 [A/G] NM_001002800,NM_005496 SMC4,SMC4 EXON Missense_Y184C,Missense_Y184C exm361859 3 160129834 [T/C] NM_001002800,NM_005496 SMC4,SMC4 EXON Missense_R272W,Missense_R272W exm361866 3 160130211 [C/G] NM_001002800,NM_005496 SMC4,SMC4 EXON Missense_R317T,Missense_R317T exm361868 3 160131274 [A/G] NM_001002800,NM_005496 SMC4,SMC4 EXON Missense_K332E,Missense_K332E exm361871 3 160131347 [A/G] NM_001002800,NM_005496 SMC4,SMC4 EXON Missense_N356S,Missense_N356S exm361893 3 160135704 [T/C] NM_001002800,NM_005496 SMC4,SMC4 EXON Missense_I544T,Missense_I544T exm361896 3 160137235 [C/G] NM_001002800,NM_005496 SMC4,SMC4 EXON Missense_K587N,Missense_K587N exm361898 3 160137281 [A/G] NM_001002800,NM_005496 SMC4,SMC4 EXON Missense_I603V,Missense_I603V exm361900 3 160137317 [A/G] NM_001002800,NM_005496 SMC4,SMC4 EXON Missense_I615V,Missense_I615V exm361906 3 160141226 [T/C] NM_001002800,NM_005496 SMC4,SMC4 EXON Missense_A678V,Missense_A678V exm361908 3 160141230 [A/C] NM_001002800,NM_005496 SMC4,SMC4 EXON Missense_K679N,Missense_K679N exm361913 3 160142685 [A/G] NM_001002800,NM_005496 SMC4,SMC4 EXON Missense_D786N,Missense_D786N exm361920 3 160143863 [A/G] NM_001002800,NM_005496 SMC4,SMC4 EXON Missense_R827H,Missense_R827H exm361922 3 160143877 [A/G] NM_001002800,NM_005496 SMC4,SMC4 EXON Missense_E832K,Missense_E832K exm361924 3 160143905 [A/G] NM_001002800,NM_005496 SMC4,SMC4 EXON Missense_E841G,Missense_E841G exm361926 3 160143943 [A/G] NM_001002800,NM_005496 SMC4,SMC4 EXON Missense_K854E,Missense_K854E exm361958 3 160150092 [A/G] NM_001002800,NM_005496 SMC4,SMC4 EXON Missense_V1107I,Missense_V1107I exm361960 3 160150107 [A/G] NM_001002800,NM_005496 SMC4,SMC4 EXON Missense_K1112E,Missense_K1112E exm361969 3 160150908 [T/C] NM_001002800,NM_005496 SMC4,SMC4 EXON Missense_H1209Y,Missense_H1209Y exm361977 3 160156040 [G/C] NM_173084 TRIM59 EXON Missense_R311T exm2273976 3 160156046 [A/G] NM_173084 TRIM59 EXON Missense_P309L exm361978 3 160156092 [T/C] NM_173084 TRIM59 EXON Missense_I294V exm361982 3 160156143 [T/C] NM_173084 TRIM59 EXON Missense_I277V exm361986 3 160156193 [T/C] NM_173084 TRIM59 EXON Missense_H260R exm361988 3 160156199 [T/C] NM_173084 TRIM59 EXON Missense_R258H exm361989 3 160156200 [A/G] NM_173084 TRIM59 EXON Missense_R258C exm361993 3 160156298 [A/G] NM_173084 TRIM59 EXON Missense_M225T exm2042789 3 160156347 [T/C] NM_173084 TRIM59 EXON Missense_D209N exm362004 3 160156383 [T/C] NM_173084 TRIM59 EXON Missense_E197K exm362006 3 160156431 [T/C] NM_173084 TRIM59 EXON Missense_D181N exm362010 3 160156502 [A/C] NM_173084 TRIM59 EXON Missense_W157L exm362021 3 160156708 [T/G] NM_173084 TRIM59 EXON Missense_Q88H exm362024 3 160156761 [T/C] NM_173084 TRIM59 EXON Missense_E71K exm2042791 3 160156820 [T/C] NM_173084 TRIM59 EXON Missense_R51Q exm2269560 3 160168769 [T/C] exm362043 3 160219951 [T/C] NM_002268 KPNA4 EXON Missense_G503S exm-rs4679904 3 160340896 [T/C] exm362101 3 160395139 [T/G] NM_025047 ARL14 EXON Missense_G2V exm362102 3 160395142 [T/C] NM_025047 ARL14 EXON Missense_S3L exm362107 3 160395207 [A/G] NM_025047 ARL14 EXON Missense_G25R exm2042838 3 160395208 [A/G] NM_025047 ARL14 EXON Missense_G25E exm362117 3 160395381 [A/G] NM_025047 ARL14 EXON Missense_D83N exm362120 3 160395483 [A/C] NM_025047 ARL14 EXON Missense_P117T exm362124 3 160395579 [T/C] NM_025047 ARL14 EXON Missense_R149W exm362126 3 160395621 [A/G] NM_025047 ARL14 EXON Missense_G163R exm362130 3 160395694 [T/C] NM_025047 ARL14 EXON Missense_A187V exm362135 3 160474172 [G/C] NM_139245 PPM1L EXON Missense_L26V exm2269561 3 160523531 [T/C] NM_139245 PPM1L Silent exm362154 3 160679623 [A/G] NM_139245 PPM1L EXON Missense_T167A exm362155 3 160679624 [T/C] NM_139245 PPM1L EXON Missense_T167I exm362157 3 160679651 [T/C] NM_139245 PPM1L EXON Missense_I176T exm2261420 3 160755062 [A/G] NM_139245 PPM1L Silent exm362186 3 160804017 [T/C] NM_001038628,NM_033167,NM_033168,NM_033169,NM_003781 B3GALNT1,B3GALNT1,B3GALNT1,B3GALNT1,B3GALNT1 EXON Missense_V176I,Missense_V176I,Missense_V176I,Missense_V176I,Missense_V176I exm362196 3 160804341 [A/G] NM_001038628,NM_033167,NM_033168,NM_033169,NM_003781 B3GALNT1,B3GALNT1,B3GALNT1,B3GALNT1,B3GALNT1 EXON Nonsense_R68X,Nonsense_R68X,Nonsense_R68X,Nonsense_R68X,Nonsense_R68X exm362217 3 160939832 [A/C] NM_015938 NMD3 EXON Missense_S11R exm362232 3 160951196 [T/G] NM_015938 NMD3 EXON Missense_V96L exm2238883 3 160960337 [A/G] NM_015938 NMD3 EXON Missense_N305D exm362255 3 160960377 [T/G] NM_015938 NMD3 EXON Missense_V318G exm362256 3 160960401 [T/A] NM_015938 NMD3 EXON Missense_D326V exm362266 3 160967274 [A/T] NM_015938 NMD3 EXON Missense_K412N exm362272 3 160968084 [A/G] NM_015938 NMD3 EXON Missense_A451T exm362286 3 161063913 [T/C] NM_001040100 SPTSSB EXON Missense_I67V exm2269683 3 161102719 [T/C] exm2265516 3 161170611 [A/G] exm362317 3 161214696 [A/G] NM_001080440 OTOL1 EXON Missense_K34R exm362318 3 161214753 [A/G] NM_001080440 OTOL1 EXON Missense_E53G exm362324 3 161214827 [A/G] NM_001080440 OTOL1 EXON Missense_V78I exm362330 3 161217030 [T/G] NM_001080440 OTOL1 EXON Missense_G146C exm362337 3 161220819 [A/C] NM_001080440 OTOL1 EXON Missense_P175T exm362343 3 161220921 [A/G] NM_001080440 OTOL1 EXON Missense_G209R exm362351 3 161221267 [A/G] NM_001080440 OTOL1 EXON Missense_K324R exm362369 3 161221650 [T/G] NM_001080440 OTOL1 EXON Missense_V452L exm362370 3 161221705 [A/C] NM_001080440 OTOL1 EXON Missense_E470A exm362371 3 161221726 [A/C] NM_001080440 OTOL1 EXON Missense_P477Q exm-rs6808138 3 161392576 [C/G] exm2255806 3 161453946 [T/C] exm2255807 3 162053213 [T/C] exm2265635 3 162123179 [A/G] exm-rs11924705 3 162161616 [T/C] exm-rs1968824 3 162261021 [A/G] exm2269564 3 162282328 [T/G] exm2269565 3 163233510 [T/C] exm2269566 3 163617301 [T/C] exm2269685 3 163735214 [T/C] exm-rs7427021 3 163761964 [A/G] exm2265517 3 164182926 [A/G] exm2265518 3 164404292 [A/G] exm2269686 3 164586522 [T/C] exm362381 3 164697211 [T/C] NM_001041 SI EXON Missense_R1808H exm362383 3 164700041 [C/G] NM_001041 SI EXON Missense_T1802S exm362385 3 164700062 [A/G] NM_001041 SI EXON Missense_S1795L exm362388 3 164700083 [A/G] NM_001041 SI EXON Missense_T1788M exm2275707 3 164700167 [A/C] NM_001041 SI EXON Missense_G1760V exm362400 3 164700803 [A/C] NM_001041 SI EXON Missense_F1745C exm362414 3 164709250 [C/G] NM_001041 SI EXON Missense_V1667L exm362422 3 164709997 [T/C] NM_001041 SI EXON Missense_V1651I exm362426 3 164710154 [A/C] NM_001041 SI EXON Missense_F1625V exm362427 3 164710159 [T/G] NM_001041 SI EXON Missense_D1623A exm362428 3 164710178 [G/C] NM_001041 SI EXON Missense_D1617H exm362434 3 164712061 [A/G] NM_001041 SI EXON Nonsense_R1609X exm362440 3 164712165 [C/G] NM_001041 SI EXON Missense_T1574S exm362452 3 164714532 [T/C] NM_001041 SI EXON Missense_M1523I exm362457 3 164716417 [T/C] NM_001041 SI EXON Missense_R1484H exm2238896 3 164724614 [T/G] NM_001041 SI EXON Missense_P1466T exm362469 3 164725726 [T/C] NM_001041 SI EXON Missense_E1414K exm362473 3 164727113 [A/C] NM_001041 SI EXON Missense_I1378S exm362475 3 164727147 [T/C] NM_001041 SI EXON Missense_R1367G exm2043086 3 164733820 [T/C] NM_001041 SI EXON Missense_T1270A exm362494 3 164733847 [T/C] NM_001041 SI EXON Missense_D1261N exm362496 3 164733856 [T/C] NM_001041 SI EXON Missense_T1258A exm362503 3 164735584 [A/G] NM_001041 SI EXON Missense_P1200S exm2043099 3 164737395 [C/G] NM_001041 SI EXON Missense_P1140A exm362535 3 164741443 [T/G] NM_001041 SI EXON Missense_N1005T exm362536 3 164741458 [T/G] NM_001041 SI EXON Missense_Q1000P exm362537 3 164741534 [A/G] NM_001041 SI EXON Missense_Y975H exm362541 3 164748500 [T/C] NM_001041 SI EXON Synonymous_T964T exm362542 3 164748504 [T/C] NM_001041 SI EXON Missense_R963K exm362545 3 164748603 [T/C] NM_001041 SI EXON Missense_Q930R exm362548 3 164748652 [T/G] NM_001041 SI EXON Missense_L914I exm362554 3 164750368 [A/G] NM_001041 SI EXON Missense_A893V exm362558 3 164750447 [A/G] NM_001041 SI EXON Missense_Y867H exm362566 3 164755713 [A/C] NM_001041 SI EXON Nonsense_E801X exm362567 3 164755719 [T/C] NM_001041 SI EXON Missense_I799V exm362573 3 164755772 [T/A] NM_001041 SI EXON Missense_Y781F exm362575 3 164755793 [T/C] NM_001041 SI EXON Missense_R774K exm362576 3 164755794 [T/C] NM_001041 SI EXON Missense_R774G exm362582 3 164758737 [A/T] NM_001041 SI EXON Missense_V717D exm362587 3 164760932 [T/C] NM_001041 SI EXON Missense_E640G exm362589 3 164764679 [A/C] NM_001041 SI EXON Nonsense_E613X exm362592 3 164764786 [A/C] NM_001041 SI EXON Missense_V577G exm362601 3 164767632 [A/C] NM_001041 SI EXON Missense_G515V exm362612 3 164776771 [T/A] NM_001041 SI EXON Missense_S460C exm362621 3 164777725 [T/C] NM_001041 SI EXON Missense_V371M exm362627 3 164777793 [A/G] NM_001041 SI EXON Missense_P348L exm362650 3 164783108 [A/G] NM_001041 SI EXON Missense_R250C exm362654 3 164783165 [T/C] NM_001041 SI EXON Missense_T231A exm362659 3 164785165 [T/C] NM_001041 SI EXON Missense_S200G exm362665 3 164785207 [A/G] NM_001041 SI EXON Missense_S186P exm362667 3 164785246 [G/C] NM_001041 SI EXON Missense_P173A exm362680 3 164786917 [A/C] NM_001041 SI EXON Missense_F108V exm362688 3 164793758 [A/C] NM_001041 SI EXON Missense_V15F exm362690 3 164793796 [T/G] NM_001041 SI EXON Missense_A2E exm362714 3 164905959 [T/C] NM_014926 SLITRK3 EXON Missense_R887Q exm362718 3 164906020 [A/C] NM_014926 SLITRK3 EXON Missense_G867C exm362719 3 164906031 [T/C] NM_014926 SLITRK3 EXON Missense_H863R exm362730 3 164906209 [T/C] NM_014926 SLITRK3 EXON Missense_N804D exm362732 3 164906320 [T/A] NM_014926 SLITRK3 EXON Missense_S767T exm362742 3 164906745 [T/G] NM_014926 SLITRK3 EXON Missense_A625D exm362746 3 164906806 [T/C] NM_014926 SLITRK3 EXON Missense_I605V exm2238902 3 164907541 [T/C] NM_014926 SLITRK3 EXON Missense_I360V exm362773 3 164907679 [T/G] NM_014926 SLITRK3 EXON Missense_L314I exm362787 3 164908092 [T/C] NM_014926 SLITRK3 EXON Missense_R176K exm2255815 3 164963899 [A/G] exm2269567 3 165207449 [T/C] exm-rs1523288 3 165280209 [T/C] exm362806 3 165491264 [T/C] NM_000055 BCHE EXON Missense_K572R exm362807 3 165491280 [T/C] NM_000055 BCHE EXON Missense_A567T exm362808 3 165491288 [A/G] NM_000055 BCHE EXON Missense_I564T exm362813 3 165503962 [A/G] NM_000055 BCHE EXON Missense_S552L exm2273978 3 165504085 [G/C] NM_000055 BCHE EXON Missense_T511S exm362822 3 165547330 [A/G] NM_000055 BCHE EXON Missense_R498W exm362829 3 165547539 [T/C] NM_000055 BCHE EXON Missense_C428Y exm362831 3 165547569 [A/C] NM_000055 BCHE EXON Missense_G418V exm362836 3 165547672 [T/C] NM_000055 BCHE EXON Missense_I384V exm362846 3 165547973 [C/G] NM_000055 BCHE EXON Missense_E283D exm362848 3 165548010 [A/G] NM_000055 BCHE EXON Missense_T271M exm362852 3 165548187 [A/G] NM_000055 BCHE EXON Missense_A212V exm362864 3 165548374 [T/C] NM_000055 BCHE EXON Missense_T150A exm362866 3 165548394 [T/C] NM_000055 BCHE EXON Missense_G143D exm362871 3 165548508 [T/C] NM_000055 BCHE EXON Missense_H105R exm362872 3 165548529 [T/C] NM_000055 BCHE EXON Missense_D98G exm362882 3 165548703 [T/C] NM_000055 BCHE EXON Missense_K40R exm362884 3 165548755 [T/C] NM_000055 BCHE EXON Missense_I23V exm2265636 3 165706855 [A/G] exm2265520 3 165761918 [A/G] exm2265521 3 166124934 [A/G] exm2265522 3 166522847 [A/G] exm2265637 3 166576022 [A/G] exm362892 3 166958644 [A/C] NM_001199202,NM_024687,NM_001199201 ZBBX,ZBBX,ZBBX EXON Missense_E751D,Missense_E780D,Missense_E819D exm362893 3 166958669 [C/G] NM_001199202,NM_024687,NM_001199201 ZBBX,ZBBX,ZBBX EXON Nonsense_S743X,Nonsense_S772X,Nonsense_S811X exm362897 3 166960317 [T/C] NM_001199202,NM_024687,NM_001199201 ZBBX,ZBBX,ZBBX EXON Missense_G722D,Missense_G751D,Missense_G790D exm2255820 3 166960412 [A/G] NM_001199202,NM_024687,NM_001199201 ZBBX,ZBBX,ZBBX EXON Synonymous_Y690Y,Synonymous_Y719Y,Synonymous_Y758Y exm362915 3 167023493 [T/C] NM_001199202,NM_024687,NM_001199201 ZBBX,ZBBX,ZBBX EXON Missense_E526K,Missense_E555K,Missense_E555K exm362918 3 167023573 [T/C] NM_001199202,NM_024687,NM_001199201 ZBBX,ZBBX,ZBBX EXON Missense_S499N,Missense_S528N,Missense_S528N exm362919 3 167023588 [T/C] NM_001199202,NM_024687,NM_001199201 ZBBX,ZBBX,ZBBX EXON Missense_C494Y,Missense_C523Y,Missense_C523Y exm362920 3 167023624 [A/G] NM_001199202,NM_024687,NM_001199201 ZBBX,ZBBX,ZBBX EXON Missense_I482T,Missense_I511T,Missense_I511T exm362923 3 167023660 [T/C] NM_001199202,NM_024687,NM_001199201 ZBBX,ZBBX,ZBBX EXON Missense_S470N,Missense_S499N,Missense_S499N exm362926 3 167023713 [T/G] NM_001199202,NM_024687,NM_001199201 ZBBX,ZBBX,ZBBX EXON Missense_D452E,Missense_D481E,Missense_D481E exm362927 3 167023738 [C/G] NM_001199202,NM_024687,NM_001199201 ZBBX,ZBBX,ZBBX EXON Missense_A444G,Missense_A473G,Missense_A473G exm362932 3 167033541 [T/C] NM_001199202,NM_024687,NM_001199201 ZBBX,ZBBX,ZBBX EXON Missense_R395Q,Missense_R424Q,Missense_R424Q exm362941 3 167035291 [T/C] NM_001199202,NM_024687,NM_001199201 ZBBX,ZBBX,ZBBX EXON Missense_D331N,Missense_D360N,Missense_D360N exm362944 3 167035326 [T/G] NM_001199202,NM_024687,NM_001199201 ZBBX,ZBBX,ZBBX EXON Missense_T319N,Missense_T348N,Missense_T348N exm362945 3 167035332 [T/C] NM_001199202,NM_024687,NM_001199201 ZBBX,ZBBX,ZBBX EXON Missense_H317R,Missense_H346R,Missense_H346R exm362947 3 167035354 [A/G] NM_001199202,NM_024687,NM_001199201 ZBBX,ZBBX,ZBBX EXON Missense_P310S,Missense_P339S,Missense_P339S exm362952 3 167040008 [T/C] NM_001199202,NM_024687,NM_001199201 ZBBX,ZBBX,ZBBX EXON Missense_E265K,Missense_E294K,Missense_E294K exm362953 3 167045741 [A/G] NM_001199202,NM_024687,NM_001199201 ZBBX,ZBBX,ZBBX EXON Missense_A255V,Missense_A284V,Missense_A284V exm362955 3 167045759 [T/C] NM_001199202,NM_024687,NM_001199201 ZBBX,ZBBX,ZBBX EXON Missense_K249R,Missense_K278R,Missense_K278R exm362957 3 167045778 [T/C] NM_001199202,NM_024687,NM_001199201 ZBBX,ZBBX,ZBBX EXON Missense_G243R,Missense_G272R,Missense_G272R exm362958 3 167045787 [A/G] NM_001199202,NM_024687,NM_001199201 ZBBX,ZBBX,ZBBX EXON Missense_W240R,Missense_W269R,Missense_W269R exm362969 3 167051635 [A/G] NM_001199202,NM_024687,NM_001199201 ZBBX,ZBBX,ZBBX EXON Missense_L194F,Missense_L223F,Missense_L223F exm362970 3 167051649 [A/G] NM_001199202,NM_024687,NM_001199201 ZBBX,ZBBX,ZBBX EXON Missense_P189L,Missense_P218L,Missense_P218L exm362973 3 167051659 [T/G] NM_001199202,NM_024687,NM_001199201 ZBBX,ZBBX,ZBBX EXON Missense_Q186K,Missense_Q215K,Missense_Q215K exm2269568 3 167062902 [T/C] NM_001199202,NM_024687,NM_001199201 ZBBX,ZBBX,ZBBX Silent,Silent,Silent exm362979 3 167068256 [T/A] NM_001199202,NM_024687,NM_001199201 ZBBX,ZBBX,ZBBX EXON Missense_K131N,Missense_K160N,Missense_K160N exm362993 3 167083673 [C/G] NM_001199202,NM_024687,NM_001199201 ZBBX,ZBBX,ZBBX Silent,Silent,Silent exm2238911 3 167083674 [A/C] NM_001199202,NM_024687,NM_001199201 ZBBX,ZBBX,ZBBX EXON Missense_K62N,Missense_K91N,Missense_K91N exm362999 3 167083741 [A/G] NM_001199202,NM_024687,NM_001199201 ZBBX,ZBBX,ZBBX EXON Missense_S40F,Missense_S69F,Missense_S69F exm363001 3 167086327 [A/G] NM_001199202,NM_024687,NM_001199201 ZBBX,ZBBX,ZBBX EXON Missense_L6S,Missense_L35S,Missense_L35S exm363003 3 167086346 [A/G] NM_001199202,NM_024687,NM_001199201 ZBBX,ZBBX,ZBBX EXON Silent,Nonsense_R29X,Nonsense_R29X exm363027 3 167167160 [A/G] NM_006217,NM_001012303 SERPINI2,SERPINI2 EXON Missense_T332M,Missense_T342M exm2255822 3 167170764 [A/G] NM_006217,NM_001012303 SERPINI2,SERPINI2 EXON Synonymous_T308T,Synonymous_T318T exm363039 3 167183091 [T/C] NM_006217,NM_001012303 SERPINI2,SERPINI2 EXON Missense_M257V,Missense_M267V exm363041 3 167183345 [A/G] NM_006217,NM_001012303 SERPINI2,SERPINI2 EXON Nonsense_Q199X,Nonsense_Q209X exm363045 3 167183414 [A/G] NM_006217,NM_001012303 SERPINI2,SERPINI2 EXON Missense_R176W,Missense_R186W exm363046 3 167183441 [T/A] NM_006217,NM_001012303 SERPINI2,SERPINI2 EXON Missense_S167T,Missense_S177T exm363048 3 167184878 [T/C] NM_006217,NM_001012303 SERPINI2,SERPINI2 EXON Missense_E148G,Missense_E158G exm363049 3 167184888 [A/C] NM_006217,NM_001012303 SERPINI2,SERPINI2 EXON Missense_A145S,Missense_A155S exm363065 3 167189601 [T/C] NM_006217,NM_001012303 SERPINI2,SERPINI2 EXON Missense_S8G,Missense_S18G exm363066 3 167189607 [A/C] NM_006217,NM_001012303 SERPINI2,SERPINI2 EXON Missense_L6V,Missense_L16V exm2043326 3 167196724 [T/C] NM_178824 WDR49 EXON Missense_R679Q exm363078 3 167217964 [A/G] NM_178824 WDR49 EXON Missense_L651P exm363081 3 167218066 [A/G] NM_178824 WDR49 EXON Missense_I617T exm2238912 3 167223119 [T/C] NM_178824 WDR49 EXON Missense_G602S exm363086 3 167240151 [G/C] NM_178824 WDR49 EXON Missense_T557R exm363087 3 167240176 [T/C] NM_178824 WDR49 EXON Missense_K549E exm363088 3 167240215 [T/C] NM_178824 WDR49 EXON Missense_V536M exm363094 3 167245655 [T/C] NM_178824 WDR49 EXON Missense_I501V exm363095 3 167245724 [T/C] NM_178824 WDR49 EXON Missense_I478V exm363096 3 167245727 [A/G] NM_178824 WDR49 EXON Nonsense_R477X exm363098 3 167245750 [A/C] NM_178824 WDR49 EXON Missense_R469I exm363099 3 167245765 [A/G] NM_178824 WDR49 EXON Missense_A464V exm363107 3 167246997 [T/G] NM_178824 WDR49 EXON Missense_S398Y exm363116 3 167248995 [A/G] NM_178824 WDR49 EXON Missense_T357M exm363120 3 167254659 [T/C] NM_178824 WDR49 EXON Synonymous_T299T exm363121 3 167254664 [A/C] NM_178824 WDR49 EXON Missense_V298F exm2043345 3 167254700 [A/T] NM_178824 WDR49 EXON Missense_I286F exm363126 3 167272557 [A/T] NM_178824 WDR49 EXON Missense_H227Q exm363131 3 167277887 [A/G] NM_178824 WDR49 EXON Missense_R206W exm363136 3 167277985 [A/G] NM_178824 WDR49 EXON Missense_S173F exm363138 3 167278013 [T/C] NM_178824 WDR49 EXON Missense_I164V exm363141 3 167293773 [G/C] NM_178824 WDR49 EXON Missense_A140G exm363144 3 167293828 [A/G] NM_178824 WDR49 EXON Nonsense_R122X exm363148 3 167319938 [T/G] NM_178824 WDR49 EXON Missense_L77I exm363153 3 167320010 [T/C] NM_178824 WDR49 EXON Missense_K53E exm363155 3 167322103 [T/C] NM_178824 WDR49 EXON Missense_R30Q exm363156 3 167322104 [A/G] NM_178824 WDR49 EXON Missense_R30W exm363159 3 167322157 [T/C] NM_178824 WDR49 EXON Missense_N12S exm363161 3 167322164 [A/G] NM_178824 WDR49 EXON Missense_R10C exm363182 3 167437888 [T/C] NM_145860,NM_145859,NM_007217 PDCD10,PDCD10,PDCD10 EXON Missense_M20V,Missense_M20V,Missense_M20V exm363186 3 167506956 [A/G] NM_001122752,NM_005025 SERPINI1,SERPINI1 EXON Missense_S14G,Missense_S14G exm363188 3 167506966 [A/C] NM_001122752,NM_005025 SERPINI1,SERPINI1 EXON Missense_T17K,Missense_T17K exm363193 3 167506993 [T/C] NM_001122752,NM_005025 SERPINI1,SERPINI1 EXON Missense_I26T,Missense_I26T exm363194 3 167507022 [A/C] NM_001122752,NM_005025 SERPINI1,SERPINI1 EXON Missense_R36S,Missense_R36S exm363195 3 167507124 [A/G] NM_001122752,NM_005025 SERPINI1,SERPINI1 EXON Missense_K70E,Missense_K70E exm363203 3 167508198 [A/G] NM_001122752,NM_005025 SERPINI1,SERPINI1 EXON Missense_V97I,Missense_V97I exm363206 3 167508249 [A/G] NM_001122752,NM_005025 SERPINI1,SERPINI1 EXON Missense_V114M,Missense_V114M exm363212 3 167510414 [A/G] NM_001122752,NM_005025 SERPINI1,SERPINI1 EXON Missense_D173G,Missense_D173G exm363219 3 167512569 [A/G] NM_001122752,NM_005025 SERPINI1,SERPINI1 EXON Missense_A280T,Missense_A280T exm363227 3 167540827 [A/G] NM_001122752,NM_005025 SERPINI1,SERPINI1 EXON Missense_N345D,Missense_N345D exm363235 3 167543061 [A/G] NM_001122752,NM_005025 SERPINI1,SERPINI1 EXON Missense_M395V,Missense_M395V exm2255824 3 167578227 [A/G] exm363245 3 167728092 [T/C] NM_014498 GOLIM4 EXON Missense_V686I exm363250 3 167728167 [A/G] NM_014498 GOLIM4 EXON Nonsense_R661X exm363265 3 167742756 [T/C] NM_014498 GOLIM4 EXON Missense_N584S exm363272 3 167747019 [T/C] NM_014498 GOLIM4 EXON Missense_E502G exm363277 3 167747589 [A/G] NM_014498 GOLIM4 EXON Missense_P471L exm363279 3 167747643 [T/C] NM_014498 GOLIM4 EXON Missense_Q453R exm363283 3 167747679 [A/C] NM_014498 GOLIM4 EXON Missense_G441V exm363288 3 167747707 [T/C] NM_014498 GOLIM4 EXON Missense_E432K exm363294 3 167750318 [A/G] NM_014498 GOLIM4 EXON Missense_A389V exm363300 3 167750348 [T/C] NM_014498 GOLIM4 EXON Missense_R379Q exm363306 3 167750423 [A/G] NM_014498 GOLIM4 EXON Missense_A354V exm363308 3 167750481 [T/C] NM_014498 GOLIM4 EXON Missense_V335M exm363309 3 167750504 [T/C] NM_014498 GOLIM4 EXON Missense_R327H exm2043419 3 167750553 [T/C] NM_014498 GOLIM4 EXON Missense_E311K exm363322 3 167754775 [A/G] NM_014498 GOLIM4 EXON Missense_V231A exm2043424 3 167758596 [T/C] NM_014498 GOLIM4 EXON Missense_K221R exm2043427 3 167759217 [A/G] NM_014498 GOLIM4 EXON Missense_A188V exm363333 3 167761233 [T/C] NM_014498 GOLIM4 EXON Missense_N151D exm363341 3 167762624 [T/C] NM_014498 GOLIM4 EXON Missense_M120V exm363349 3 167812940 [A/G] NM_014498 GOLIM4 EXON Missense_A45V exm-rs4345115 3 167837748 [T/C] exm-rs6802578 3 168162869 [T/C] NR_021485 EGFEM1P Silent exm2265638 3 168196092 [A/G] NR_021485 EGFEM1P Silent exm2255825 3 168308799 [A/G] NR_021485 EGFEM1P Silent exm363361 3 168802737 [A/G] NM_001164000,NM_001163999,NM_001105078,NM_005241,NM_001205194,NM_001105077,NM_004991 MECOM,MECOM,MECOM,MECOM,MECOM,MECOM,MECOM EXON Missense_A1030V,Missense_A1031V,Missense_A1039V,Missense_A1039V,Missense_A1039V,Missense_A1104V,Missense_A1227V exm363374 3 168806925 [T/C] NM_001164000,NM_001163999,NM_001105078,NM_005241,NM_001205194,NM_001105077,NM_004991 MECOM,MECOM,MECOM,MECOM,MECOM,MECOM,MECOM EXON Missense_I953V,Missense_I954V,Missense_I962V,Missense_I962V,Missense_I962V,Missense_I1027V,Missense_I1150V exm363378 3 168807806 [T/C] NM_001164000,NM_001163999,NM_001105078,NM_005241,NM_001205194,NM_001105077,NM_004991 MECOM,MECOM,MECOM,MECOM,MECOM,MECOM,MECOM EXON Missense_C931Y,Missense_C932Y,Missense_C940Y,Missense_C940Y,Missense_C940Y,Missense_C1005Y,Missense_C1128Y exm363388 3 168812865 [A/G] NM_001164000,NM_001163999,NM_001105078,NM_005241,NM_001205194,NM_001105077,NM_004991 MECOM,MECOM,MECOM,MECOM,MECOM,MECOM,MECOM EXON Synonymous_S809S,Synonymous_S810S,Synonymous_S818S,Synonymous_S818S,Synonymous_S818S,Synonymous_S883S,Synonymous_S1006S exm363389 3 168812870 [T/C] NM_001164000,NM_001163999,NM_001105078,NM_005241,NM_001205194,NM_001105077,NM_004991 MECOM,MECOM,MECOM,MECOM,MECOM,MECOM,MECOM EXON Missense_M808V,Missense_M809V,Missense_M817V,Missense_M817V,Missense_M817V,Missense_M882V,Missense_M1005V exm363392 3 168812942 [A/G] NM_001164000,NM_001163999,NM_001105078,NM_005241,NM_001205194,NM_001105077,NM_004991 MECOM,MECOM,MECOM,MECOM,MECOM,MECOM,MECOM EXON Missense_H784Y,Missense_H785Y,Missense_H793Y,Missense_H793Y,Missense_H793Y,Missense_H858Y,Missense_H981Y exm363398 3 168819953 [C/G] NM_001164000,NM_001163999,NM_001105078,NM_005241,NM_001205194,NM_001105077,NM_004991 MECOM,MECOM,MECOM,MECOM,MECOM,MECOM,MECOM EXON Missense_A692G,Missense_A693G,Missense_A701G,Missense_A701G,Missense_A701G,Missense_A766G,Missense_A889G exm363399 3 168819954 [T/C] NM_001164000,NM_001163999,NM_001105078,NM_005241,NM_001205194,NM_001105077,NM_004991 MECOM,MECOM,MECOM,MECOM,MECOM,MECOM,MECOM EXON Missense_A692T,Missense_A693T,Missense_A701T,Missense_A701T,Missense_A701T,Missense_A766T,Missense_A889T exm363401 3 168825728 [T/C] NM_001164000,NM_001163999,NM_001105078,NM_005241,NM_001205194,NM_001105077,NM_004991 MECOM,MECOM,MECOM,MECOM,MECOM,MECOM,MECOM EXON Silent,Silent,Missense_D676N,Missense_D676N,Missense_D676N,Missense_D741N,Missense_D864N exm363403 3 168830660 [A/G] NM_001164000,NM_001163999,NM_001105078,NM_005241,NM_001205194,NM_001105077,NM_004991 MECOM,MECOM,MECOM,MECOM,MECOM,MECOM,MECOM EXON Missense_V643A,Missense_V644A,Missense_V643A,Missense_V643A,Missense_V643A,Missense_V708A,Missense_V831A exm363413 3 168833357 [T/C] NM_001164000,NM_001163999,NM_001105078,NM_005241,NM_001205194,NM_001105077,NM_004991 MECOM,MECOM,MECOM,MECOM,MECOM,MECOM,MECOM EXON Missense_S580N,Missense_S581N,Missense_S580N,Missense_S580N,Missense_S580N,Missense_S645N,Missense_S768N exm363419 3 168833441 [A/G] NM_001164000,NM_001163999,NM_001105078,NM_005241,NM_001205194,NM_001105077,NM_004991 MECOM,MECOM,MECOM,MECOM,MECOM,MECOM,MECOM EXON Missense_S552F,Missense_S553F,Missense_S552F,Missense_S552F,Missense_S552F,Missense_S617F,Missense_S740F exm363435 3 168833976 [T/C] NM_001164000,NM_001163999,NM_001105078,NM_005241,NM_001205194,NM_001105077,NM_004991 MECOM,MECOM,MECOM,MECOM,MECOM,MECOM,MECOM EXON Missense_E374K,Missense_E375K,Missense_E374K,Missense_E374K,Missense_E374K,Missense_E439K,Missense_E562K exm363447 3 168834305 [T/G] NM_001164000,NM_001163999,NM_001105078,NM_005241,NM_001205194,NM_001105077,NM_004991 MECOM,MECOM,MECOM,MECOM,MECOM,MECOM,MECOM EXON Missense_D264A,Missense_D265A,Missense_D264A,Missense_D264A,Missense_D264A,Missense_D329A,Missense_D452A exm363448 3 168834317 [G/C] NM_001164000,NM_001163999,NM_001105078,NM_005241,NM_001205194,NM_001105077,NM_004991 MECOM,MECOM,MECOM,MECOM,MECOM,MECOM,MECOM EXON Missense_T260S,Missense_T261S,Missense_T260S,Missense_T260S,Missense_T260S,Missense_T325S,Missense_T448S exm2043475 3 168834417 [T/C] NM_001164000,NM_001163999,NM_001105078,NM_005241,NM_001205194,NM_001105077,NM_004991 MECOM,MECOM,MECOM,MECOM,MECOM,MECOM,MECOM EXON Missense_S227G,Missense_S228G,Missense_S227G,Missense_S227G,Missense_S227G,Missense_S292G,Missense_S415G exm363489 3 168861533 [T/C] NM_001164000,NM_001163999,NM_001105078,NM_005241,NM_001205194,NM_001105077,NM_004991 MECOM,MECOM,MECOM,MECOM,MECOM,MECOM,MECOM EXON Silent,Silent,Silent,Silent,Silent,Missense_G31S,Missense_G155S exm363490 3 168861536 [A/C] NM_001164000,NM_001163999,NM_001105078,NM_005241,NM_001205194,NM_001105077,NM_004991 MECOM,MECOM,MECOM,MECOM,MECOM,MECOM,MECOM EXON Silent,Silent,Silent,Silent,Silent,Missense_A30S,Missense_A154S exm363491 3 168861537 [T/G] NM_001164000,NM_001163999,NM_001105078,NM_005241,NM_001205194,NM_001105077,NM_004991 MECOM,MECOM,MECOM,MECOM,MECOM,MECOM,MECOM EXON Silent,Silent,Silent,Silent,Silent,Missense_F29L,Missense_F153L exm2255826 3 168904516 [A/G] NM_001205194,NM_004991 MECOM,MECOM Silent,Silent exm2261432 3 168995182 [A/G] NM_001205194,NM_004991 MECOM,MECOM Silent,Silent exm-rs2106124 3 169058009 [A/G] NM_001205194,NM_004991 MECOM,MECOM Silent,Silent exm-rs6774494 3 169082633 [A/G] NM_001205194,NM_004991 MECOM,MECOM Silent,Silent exm2264016 3 169084827 [A/C] NM_001205194,NM_004991 MECOM,MECOM Silent,Silent exm363514 3 169098992 [A/G] NM_001205194,NM_004991 MECOM,MECOM EXON Silent,Missense_P120S exm-rs448378 3 169100899 [A/G] NM_001205194,NM_004991 MECOM,MECOM Silent,Silent exm-rs1344555 3 169300219 [T/C] NM_001205194,NM_004991 MECOM,MECOM Silent,Silent exm-rs12696304 3 169481271 [C/G] exm363548 3 169485261 [T/C] NM_032487 ACTRT3 EXON Missense_K360E exm363551 3 169485326 [A/G] NM_032487 ACTRT3 EXON Missense_M338T exm363552 3 169485336 [A/G] NM_032487 ACTRT3 EXON Missense_S335P exm363555 3 169485414 [A/G] NM_032487 ACTRT3 EXON Missense_R309W exm363559 3 169485588 [C/G] NM_032487 ACTRT3 EXON Missense_L251V exm363560 3 169485639 [T/C] NM_032487 ACTRT3 EXON Missense_E234K exm363578 3 169485989 [A/T] NM_032487 ACTRT3 EXON Missense_Q117L exm363586 3 169487182 [T/G] NM_032487 ACTRT3 EXON Missense_R43S exm-rs10936599 3 169492101 [T/C] NM_018657,NR_033703,NM_001185118,NR_033702,NM_001185119 MYNN,MYNN,MYNN,MYNN,MYNN EXON Synonymous_H6H,Silent,Synonymous_H6H,Silent,Synonymous_H6H exm363594 3 169492304 [A/G] NM_018657,NR_033703,NM_001185118,NR_033702,NM_001185119 MYNN,MYNN,MYNN,MYNN,MYNN EXON Missense_Q74R,Silent,Missense_Q74R,Silent,Missense_Q74R exm363603 3 169496843 [G/C] NM_018657,NR_033703,NM_001185118,NR_033702,NM_001185119 MYNN,MYNN,MYNN,MYNN,MYNN EXON Missense_A185G,Silent,Missense_A185G,Silent,Missense_A185G exm363614 3 169497146 [T/C] NM_018657,NR_033703,NM_001185118,NR_033702,NM_001185119 MYNN,MYNN,MYNN,MYNN,MYNN EXON Missense_A286V,Silent,Missense_A286V,Silent,Missense_A286V exm363633 3 169504461 [T/C] NM_018657,NR_033703,NM_001185118,NR_033702,NM_001185119 MYNN,MYNN,MYNN,MYNN,MYNN EXON Missense_Y610H,Silent,Missense_Y610H,Silent,Missense_Y581H exm363635 3 169511431 [A/G] NM_153353,NM_001172779 LRRC34,LRRC34 EXON Nonsense_Q431X,Nonsense_Q463X exm363641 3 169511557 [T/C] NM_153353,NM_001172779 LRRC34,LRRC34 EXON Missense_D389N,Missense_D421N exm363643 3 169511603 [A/C] NM_153353,NM_001172779 LRRC34,LRRC34 EXON Missense_M373I,Missense_M405I exm363650 3 169513358 [A/G] NM_153353,NM_001172779 LRRC34,LRRC34 EXON Missense_V337A,Missense_V369A exm-IND3-170996766 3 169514073 [D/I] NM_153353,NM_001172779,NM_001172780 LRRC34,LRRC34,LRRC34 EXON exm363656 3 169514077 [A/G] NM_153353,NM_001172779,NM_001172780 LRRC34,LRRC34,LRRC34 EXON Missense_S298F,Missense_S330F,Missense_S330F exm363668 3 169518455 [T/C] NM_153353,NM_001172779,NM_001172780 LRRC34,LRRC34,LRRC34 EXON Silent,Missense_S249G,Missense_S249G exm363674 3 169524668 [T/C] NM_153353,NM_001172779,NM_001172780 LRRC34,LRRC34,LRRC34 EXON Missense_E166K,Missense_E166K,Missense_E166K exm363689 3 169526527 [A/G] NM_153353,NM_001172779,NM_001172780 LRRC34,LRRC34,LRRC34 EXON Missense_P49L,Missense_P49L,Missense_P49L exm363696 3 169539812 [C/G] NM_001080460 LRRIQ4 EXON Missense_Q35E exm363698 3 169539935 [T/C] NM_001080460 LRRIQ4 EXON Missense_L76F exm363699 3 169539938 [T/C] NM_001080460 LRRIQ4 EXON Missense_Y77H exm363707 3 169540002 [T/G] NM_001080460 LRRIQ4 EXON Missense_S98I exm363709 3 169540049 [A/G] NM_001080460 LRRIQ4 EXON Missense_V114I exm363718 3 169540230 [A/G] NM_001080460 LRRIQ4 EXON Missense_R174Q exm363725 3 169540383 [T/C] NM_001080460 LRRIQ4 EXON Missense_V225A exm363733 3 169540591 [C/G] NM_001080460 LRRIQ4 EXON Missense_R294S exm363736 3 169540713 [A/G] NM_001080460 LRRIQ4 EXON Missense_D335G exm363743 3 169546720 [C/G] NM_001080460 LRRIQ4 EXON Missense_Q398H exm363749 3 169548373 [T/C] NM_001080460 LRRIQ4 EXON Missense_H430Y exm363752 3 169550796 [A/G] NM_001080460 LRRIQ4 EXON Missense_E452G exm363754 3 169550822 [A/G] NM_001080460 LRRIQ4 EXON Missense_E461K exm363767 3 169555318 [A/G] NM_001080460 LRRIQ4 EXON Missense_G528S exm363769 3 169555412 [A/G] NM_001080460 LRRIQ4 EXON Missense_K559R exm363773 3 169557891 [A/G] NM_024727 LRRC31 EXON Missense_P513L exm363774 3 169557919 [A/G] NM_024727 LRRC31 EXON Missense_H504Y exm363781 3 169558086 [A/G] NM_024727 LRRC31 EXON Missense_T448M exm363783 3 169566052 [T/C] NM_024727 LRRC31 EXON Missense_A395T exm363784 3 169566055 [A/G] NM_024727 LRRC31 EXON Missense_S394P exm363790 3 169569410 [C/G] NM_024727 LRRC31 EXON Missense_L386V exm363791 3 169569432 [G/C] NM_024727 LRRC31 EXON Missense_L378F exm363792 3 169569434 [A/C] NM_024727 LRRC31 EXON Missense_L378V exm363794 3 169569517 [T/C] NM_024727 LRRC31 EXON Missense_K350R exm363795 3 169572613 [T/C] NM_024727 LRRC31 EXON Missense_V327M exm363796 3 169572621 [T/G] NM_024727 LRRC31 EXON Missense_A324E exm363799 3 169572694 [T/C] NM_024727 LRRC31 EXON Missense_E300K exm2043565 3 169574172 [G/C] NM_024727 LRRC31 EXON Missense_L259V exm363807 3 169574228 [A/G] NM_024727 LRRC31 EXON Missense_V240A exm363815 3 169574540 [A/G] NM_024727 LRRC31 EXON Missense_I203T exm363819 3 169574628 [T/C] NM_024727 LRRC31 EXON Missense_E174K exm363822 3 169578438 [A/G] NM_024727 LRRC31 EXON Missense_S133F exm363823 3 169578448 [T/A] NM_024727 LRRC31 EXON Missense_T130S exm363829 3 169587423 [A/G] NM_024727 LRRC31 EXON Missense_T58I exm363830 3 169587465 [A/G] NM_024727 LRRC31 EXON Missense_S44F exm2043578 3 169587471 [G/C] NM_024727 LRRC31 EXON Missense_S42T exm363835 3 169637373 [T/G] NM_182610 SAMD7 Silent exm363836 3 169639016 [T/C] NM_182610 SAMD7 EXON Missense_S34F exm363842 3 169639114 [T/C] NM_182610 SAMD7 EXON Missense_R67W exm363849 3 169644366 [T/C] NM_182610 SAMD7 EXON Missense_Y106H exm363856 3 169644582 [A/G] NM_182610 SAMD7 EXON Missense_G178R exm363863 3 169644649 [A/G] NM_182610 SAMD7 EXON Missense_S200N exm363867 3 169644710 [C/G] NM_182610 SAMD7 EXON Missense_E220D exm363874 3 169644879 [A/G] NM_182610 SAMD7 EXON Missense_D277N exm363876 3 169644898 [T/C] NM_182610 SAMD7 EXON Missense_S283L exm363878 3 169644903 [G/C] NM_182610 SAMD7 EXON Missense_Q285E exm363881 3 169646266 [T/C] NM_182610 SAMD7 EXON Missense_I314T exm363890 3 169656188 [T/C] NM_182610 SAMD7 EXON Missense_T412I exm363892 3 169656223 [A/T] NM_182610 SAMD7 EXON Missense_T424S exm363897 3 169656274 [T/C] NM_182610 SAMD7 EXON Nonsense_R441X exm363906 3 169693451 [A/G] NM_003262 SEC62 EXON Missense_N31S exm363917 3 169700568 [A/G] NM_003262 SEC62 EXON Missense_E109K exm363919 3 169700620 [A/G] NM_003262 SEC62 EXON Missense_K126R exm363938 3 169710614 [C/G] NM_003262 SEC62 EXON Missense_E321D exm2043614 3 169710839 [T/G] NM_003262 SEC62 EXON Missense_H396Q exm2265526 3 169801658 [A/G] NM_014373 GPR160 Silent exm363952 3 169801858 [T/C] NM_014373 GPR160 EXON Missense_L33P exm363957 3 169801866 [T/A] NM_014373 GPR160 EXON Missense_I36L exm363961 3 169801953 [A/G] NM_014373 GPR160 EXON Missense_V65I exm363963 3 169801999 [C/G] NM_014373 GPR160 EXON Missense_R80T exm363967 3 169802155 [T/G] NM_014373 GPR160 EXON Missense_F132C exm363974 3 169802446 [A/G] NM_014373 GPR160 EXON Missense_H229R exm2043620 3 169802578 [T/C] NM_014373 GPR160 EXON Missense_I273T exm363987 3 169820366 [A/G] NM_024947 PHC3 EXON Missense_R912W exm363998 3 169820645 [T/C] NM_024947 PHC3 EXON Missense_R849H exm2043627 3 169824726 [G/C] NM_024947 PHC3 EXON Missense_E788Q exm364004 3 169831268 [T/C] NM_024947 PHC3 EXON Missense_K745E exm364005 3 169831270 [A/T] NM_024947 PHC3 EXON Missense_K744I exm364011 3 169835124 [T/C] NM_024947 PHC3 EXON Missense_S695G exm364016 3 169840427 [T/C] NM_024947 PHC3 EXON Missense_I632V exm364018 3 169840471 [T/C] NM_024947 PHC3 EXON Missense_R617Q exm364034 3 169846735 [T/C] NM_024947 PHC3 EXON Missense_I509V exm364035 3 169846767 [T/C] NM_024947 PHC3 EXON Missense_H498R exm364039 3 169846888 [G/C] NM_024947 PHC3 EXON Missense_A458P exm2238933 3 169847052 [T/G] NM_024947 PHC3 EXON Nonsense_S403X exm364046 3 169847125 [T/C] NM_024947 PHC3 EXON Missense_A379T exm364062 3 169889211 [T/C] NM_024947 PHC3 EXON Missense_T122A exm2255829 3 169890492 [T/C] NM_024947 PHC3 EXON Synonymous_Q63Q exm364076 3 169896715 [T/C] NM_024947 PHC3 EXON Missense_H9R exm364108 3 169998015 [T/G] NM_002740 PRKCI EXON Missense_A236S exm364109 3 169998037 [A/G] NM_002740 PRKCI EXON Missense_G243D exm364120 3 169999670 [A/G] NM_002740 PRKCI EXON Synonymous_R327R exm364132 3 170016798 [G/C] NM_002740 PRKCI EXON Missense_V535L exm364142 3 170078232 [T/C] NM_001145098,NM_005414,NM_001248008,NM_001145097 SKIL,SKIL,SKIL,SKIL EXON Missense_A18V,Missense_A38V,Missense_A38V,Missense_A38V exm364149 3 170078324 [G/C] NM_001145098,NM_005414,NM_001248008,NM_001145097 SKIL,SKIL,SKIL,SKIL EXON Missense_V49L,Missense_V69L,Missense_V69L,Missense_V69L exm364154 3 170078450 [T/C] NM_001145098,NM_005414,NM_001248008,NM_001145097 SKIL,SKIL,SKIL,SKIL EXON Missense_H91Y,Missense_H111Y,Missense_H111Y,Missense_H111Y exm364172 3 170078892 [C/G] NM_001145098,NM_005414,NM_001248008,NM_001145097 SKIL,SKIL,SKIL,SKIL EXON Missense_T238S,Missense_T258S,Missense_T258S,Missense_T258S exm364176 3 170079132 [C/G] NM_001145098,NM_005414,NM_001248008,NM_001145097 SKIL,SKIL,SKIL,SKIL EXON Missense_T318R,Missense_T338R,Missense_T338R,Missense_T338R exm364186 3 170102548 [A/G] NM_001145098,NM_005414,NM_001248008,NM_001145097 SKIL,SKIL,SKIL,SKIL EXON Missense_R455H,Missense_R475H,Missense_R475H,Silent exm364189 3 170108068 [A/G] NM_001145098,NM_005414,NM_001248008,NM_001145097 SKIL,SKIL,SKIL,SKIL EXON Missense_N476S,Missense_N496S,Missense_N496S,Missense_N450S exm364204 3 170110147 [A/T] NM_001145098,NM_005414,NM_001248008,NM_001145097 SKIL,SKIL,SKIL,SKIL EXON Missense_M646K,Missense_M666K,Missense_M666K,Missense_M620K exm364212 3 170136972 [A/C] NM_005602 CLDN11 EXON Missense_T40P exm364226 3 170150360 [A/G] NM_005602,NM_001185056 CLDN11,CLDN11 EXON Missense_R147H,Missense_R63H exm-rs6444931 3 170163474 [A/G] exm2269688 3 170171738 [T/C] exm2255831 3 170171835 [A/G] exm364245 3 170184949 [A/G] NM_020949 SLC7A14 EXON Missense_A737V exm364246 3 170184995 [T/C] NM_020949 SLC7A14 EXON Missense_G722R exm364258 3 170198095 [A/G] NM_020949 SLC7A14 EXON Missense_A659V exm364277 3 170198405 [A/G] NM_020949 SLC7A14 EXON Missense_R556W exm364280 3 170198523 [G/C] NM_020949 SLC7A14 EXON Missense_M516I exm364281 3 170198531 [T/C] NM_020949 SLC7A14 EXON Missense_V514M exm2043728 3 170198555 [T/C] NM_020949 SLC7A14 EXON Missense_V506I exm2273979 3 170198680 [A/C] NM_020949 SLC7A14 EXON Missense_C464F exm364306 3 170198903 [C/G] NM_020949 SLC7A14 EXON Missense_V390L exm364308 3 170198942 [T/C] NM_020949 SLC7A14 EXON Missense_V377I exm364310 3 170198945 [C/G] NM_020949 SLC7A14 EXON Missense_H376D exm2238937 3 170201230 [T/C] NM_020949 SLC7A14 EXON Missense_G330R exm364319 3 170201265 [A/G] NM_020949 SLC7A14 EXON Missense_T318M exm364325 3 170204096 [A/G] NM_020949 SLC7A14 EXON Missense_T274I exm364329 3 170204131 [G/C] NM_020949 SLC7A14 EXON Missense_F262L exm364335 3 170216524 [T/C] NM_020949 SLC7A14 EXON Missense_A231T exm364338 3 170216583 [A/G] NM_020949 SLC7A14 EXON Missense_I211T exm364352 3 170218919 [T/C] NM_020949 SLC7A14 EXON Missense_V174M exm364374 3 170244550 [A/G] NM_020949 SLC7A14 EXON Missense_I59T exm364377 3 170244627 [A/C] NM_020949 SLC7A14 EXON Missense_E33D exm364379 3 170244658 [T/C] NM_020949 SLC7A14 EXON Missense_H23R exm-rs4955755 3 170494409 [A/G] exm364385 3 170584249 [A/C] NM_001099645 RPL22L1 EXON Missense_V97F exm364388 3 170585821 [G/C] NM_001099645 RPL22L1 EXON Missense_E69Q exm2043781 3 170585827 [T/C] NM_001099645 RPL22L1 EXON Missense_V67I exm364396 3 170587949 [A/G] NM_001099645 RPL22L1 EXON Missense_P3L exm364400 3 170611172 [A/C] NM_020390 EIF5A2 EXON Missense_V147L exm364405 3 170624866 [A/G] NM_020390 EIF5A2 EXON Missense_I61T exm2043802 3 170715711 [T/C] NM_000340 SLC2A2 EXON Missense_G519E exm364414 3 170715835 [C/G] NM_000340 SLC2A2 EXON Missense_L478V exm2043803 3 170715865 [C/G] NM_000340 SLC2A2 EXON Missense_L468V exm364415 3 170716061 [T/C] NM_000340 SLC2A2 EXON Missense_R432H exm364420 3 170716937 [A/C] NM_000340 SLC2A2 EXON Missense_A363S exm-rs11920090 3 170717521 [A/T] NM_000340 SLC2A2 Silent exm364441 3 170724956 [A/G] NM_000340 SLC2A2 EXON Missense_T198M exm364450 3 170727834 [G/C] NM_000340 SLC2A2 EXON Missense_V137L exm364452 3 170732300 [A/G] NM_000340 SLC2A2 EXON Missense_T110I exm364453 3 170732328 [T/C] NM_000340 SLC2A2 EXON Missense_V101I exm364455 3 170732382 [T/C] NM_000340 SLC2A2 EXON Missense_E83K exm364458 3 170732471 [T/C] NM_000340 SLC2A2 EXON Missense_R53Q exm364486 3 170802910 [T/C] NM_015028,NM_001161560,NM_001161561,NM_001161562,NM_001161565,NM_001161564,NM_001161563,NM_001161566 TNIK,TNIK,TNIK,TNIK,TNIK,TNIK,TNIK,TNIK EXON Missense_A999T,Missense_A991T,Missense_A970T,Missense_A962T,Missense_A915T,Missense_A936T,Missense_A944T,Missense_A907T exm364491 3 170805169 [T/C] NM_015028,NM_001161560,NM_001161561,NM_001161562,NM_001161565,NM_001161564,NM_001161563,NM_001161566 TNIK,TNIK,TNIK,TNIK,TNIK,TNIK,TNIK,TNIK EXON Missense_V950I,Missense_V942I,Missense_V921I,Missense_V913I,Missense_V866I,Missense_V887I,Missense_V895I,Missense_V858I exm364497 3 170811629 [T/G] NM_015028,NM_001161560,NM_001161561,NM_001161562,NM_001161565,NM_001161564,NM_001161563,NM_001161566 TNIK,TNIK,TNIK,TNIK,TNIK,TNIK,TNIK,TNIK EXON Missense_E907A,Missense_E899A,Missense_E878A,Missense_E870A,Missense_E823A,Missense_E844A,Missense_E852A,Missense_E815A exm364509 3 170819385 [T/C] NM_015028,NM_001161560,NM_001161561,NM_001161562,NM_001161565,NM_001161564,NM_001161563,NM_001161566 TNIK,TNIK,TNIK,TNIK,TNIK,TNIK,TNIK,TNIK EXON Missense_R815Q,Missense_R807Q,Missense_R786Q,Missense_R778Q,Missense_R731Q,Missense_R752Q,Missense_R760Q,Missense_R723Q exm364520 3 170825950 [C/G] NM_015028,NM_001161560,NM_001161561,NM_001161562,NM_001161565,NM_001161564,NM_001161563,NM_001161566 TNIK,TNIK,TNIK,TNIK,TNIK,TNIK,TNIK,TNIK EXON Synonymous_A762A,Synonymous_A762A,Synonymous_A733A,Synonymous_A733A,Synonymous_A678A,Synonymous_A707A,Synonymous_A707A,Synonymous_A678A exm2269569 3 170832832 [T/C] NM_015028,NM_001161560,NM_001161561,NM_001161562,NM_001161565,NM_001161564,NM_001161563,NM_001161566 TNIK,TNIK,TNIK,TNIK,TNIK,TNIK,TNIK,TNIK Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm-rs11920719 3 170834559 [A/C] NM_015028,NM_001161560,NM_001161561,NM_001161562,NM_001161565,NM_001161564,NM_001161563,NM_001161566 TNIK,TNIK,TNIK,TNIK,TNIK,TNIK,TNIK,TNIK Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm364533 3 170843757 [A/T] NM_015028,NM_001161560,NM_001161561,NM_001161562,NM_001161565,NM_001161564,NM_001161563,NM_001161566 TNIK,TNIK,TNIK,TNIK,TNIK,TNIK,TNIK,TNIK EXON Missense_I653F,Missense_I653F,Missense_I624F,Missense_I624F,Missense_I569F,Missense_I598F,Missense_I598F,Missense_I569F exm364546 3 170846643 [A/G] NM_015028,NM_001161560,NM_001161561,NM_001161562,NM_001161565,NM_001161564,NM_001161563,NM_001161566 TNIK,TNIK,TNIK,TNIK,TNIK,TNIK,TNIK,TNIK EXON Missense_R545W,Missense_R545W,Missense_R516W,Missense_R516W,Silent,Silent,Silent,Silent exm364560 3 170858246 [T/C] NM_015028,NM_001161560,NM_001161561,NM_001161562,NM_001161565,NM_001161564,NM_001161563,NM_001161566 TNIK,TNIK,TNIK,TNIK,TNIK,TNIK,TNIK,TNIK EXON Missense_R425Q,Missense_R425Q,Missense_R425Q,Missense_R425Q,Missense_R425Q,Missense_R425Q,Missense_R425Q,Missense_R425Q exm-rs10513695 3 171041055 [T/G] NM_015028,NM_001161560,NM_001161561,NM_001161562,NM_001161565,NM_001161564,NM_001161563,NM_001161566 TNIK,TNIK,TNIK,TNIK,TNIK,TNIK,TNIK,TNIK Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm2265640 3 171087469 [A/G] NM_015028,NM_001161560,NM_001161561,NM_001161562,NM_001161565,NM_001161564,NM_001161563,NM_001161566,NR_027767 TNIK,TNIK,TNIK,TNIK,TNIK,TNIK,TNIK,TNIK,TNIK EXON Synonymous_P21P,Synonymous_P21P,Synonymous_P21P,Synonymous_P21P,Synonymous_P21P,Synonymous_P21P,Synonymous_P21P,Synonymous_P21P,Silent exm-rs2901705 3 171098888 [A/G] NM_015028,NM_001161560,NM_001161561,NM_001161562,NM_001161565,NM_001161564,NM_001161563,NM_001161566,NR_027767 TNIK,TNIK,TNIK,TNIK,TNIK,TNIK,TNIK,TNIK,TNIK Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm364603 3 171321023 [T/C] NM_001130081,NM_002662 PLD1,PLD1 EXON Missense_V986I,Missense_V1024I exm364605 3 171321041 [T/C] NM_001130081,NM_002662 PLD1,PLD1 EXON Missense_D980N,Missense_D1018N exm364623 3 171338223 [T/G] NM_001130081,NM_002662 PLD1,PLD1 EXON Missense_Y856S,Missense_Y894S exm2043918 3 171360647 [T/C] NM_001130081,NM_002662 PLD1,PLD1 EXON Missense_G821E,Missense_G859E exm364629 3 171360654 [T/C] NM_001130081,NM_002662 PLD1,PLD1 EXON Missense_I819V,Missense_I857V exm364639 3 171362785 [T/C] NM_001130081,NM_002662 PLD1,PLD1 EXON Missense_V782M,Missense_V820M exm364643 3 171377043 [T/C] NM_001130081,NM_002662 PLD1,PLD1 EXON Missense_I759V,Missense_I797V exm364644 3 171377058 [G/C] NM_001130081,NM_002662 PLD1,PLD1 EXON Missense_V754L,Missense_V792L exm2255833 3 171379853 [A/G] NM_001130081,NM_002662 PLD1,PLD1 EXON Synonymous_I741I,Synonymous_I779I exm2255834 3 171379898 [A/G] NM_001130081,NM_002662 PLD1,PLD1 EXON Synonymous_A726A,Synonymous_A764A exm2275708 3 171394548 [A/C] NM_001130081,NM_002662 PLD1,PLD1 EXON Missense_R653L,Missense_R691L exm364666 3 171394618 [A/T] NM_001130081,NM_002662 PLD1,PLD1 EXON Missense_I630F,Missense_I668F exm364670 3 171404478 [A/C] NM_001130081,NM_002662 PLD1,PLD1 EXON Silent,Missense_A622S exm364671 3 171404481 [T/G] NM_001130081,NM_002662 PLD1,PLD1 EXON Silent,Missense_H621N exm364676 3 171405194 [T/C] NM_001130081,NM_002662 PLD1,PLD1 EXON Missense_A574T,Missense_A574T exm364680 3 171405256 [T/C] NM_001130081,NM_002662 PLD1,PLD1 EXON Missense_K553R,Missense_K553R exm364687 3 171405373 [A/G] NM_001130081,NM_002662 PLD1,PLD1 EXON Missense_P514L,Missense_P514L exm364690 3 171406471 [A/G] NM_001130081,NM_002662 PLD1,PLD1 EXON Missense_L512F,Missense_L512F exm364700 3 171410141 [T/C] NM_001130081,NM_002662 PLD1,PLD1 EXON Missense_R440H,Missense_R440H exm364705 3 171417542 [T/C] NM_001130081,NM_002662 PLD1,PLD1 EXON Missense_R407Q,Missense_R407Q exm364706 3 171417570 [A/G] NM_001130081,NM_002662 PLD1,PLD1 EXON Missense_R398C,Missense_R398C exm364708 3 171426583 [G/C] NM_001130081,NM_002662 PLD1,PLD1 EXON Missense_M369I,Missense_M369I exm364727 3 171442535 [A/C] NM_001130081,NM_002662 PLD1,PLD1 EXON Missense_G237C,Missense_G237C exm364731 3 171443851 [A/T] NM_001130081,NM_002662 PLD1,PLD1 EXON Missense_I208L,Missense_I208L exm364735 3 171452701 [T/C] NM_001130081,NM_002662 PLD1,PLD1 EXON Missense_R165H,Missense_R165H exm364742 3 171452755 [A/G] NM_001130081,NM_002662 PLD1,PLD1 EXON Missense_T147M,Missense_T147M exm364746 3 171455341 [T/C] NM_001130081,NM_002662 PLD1,PLD1 EXON Missense_R90H,Missense_R90H exm364749 3 171455697 [G/C] NM_001130081,NM_002662 PLD1,PLD1 EXON Missense_P49A,Missense_P49A exm364752 3 171455739 [A/G] NM_001130081,NM_002662 PLD1,PLD1 EXON Missense_F35L,Missense_F35L exm2255835 3 171509135 [T/C] NM_001130081,NM_002662 PLD1,PLD1 Silent,Silent exm-rs6794092 3 171558344 [A/G] exm364760 3 171561333 [A/G] NM_001164436 TMEM212 Silent exm364769 3 171571640 [T/C] NM_001164436 TMEM212 EXON Synonymous_N181N exm2255836 3 171780763 [A/G] NM_022763,NM_001135095 FNDC3B,FNDC3B Silent,Silent exm364788 3 171965405 [T/C] NM_022763,NM_001135095 FNDC3B,FNDC3B EXON Missense_A116V,Missense_A116V exm364795 3 171965558 [G/C] NM_022763,NM_001135095 FNDC3B,FNDC3B EXON Missense_G167A,Missense_G167A exm364796 3 171969077 [C/G] NM_022763,NM_001135095 FNDC3B,FNDC3B EXON Missense_T179S,Missense_T179S exm364798 3 171969145 [T/C] NM_022763,NM_001135095 FNDC3B,FNDC3B EXON Missense_R202C,Missense_R202C exm364800 3 171969212 [T/G] NM_022763,NM_001135095 FNDC3B,FNDC3B EXON Missense_G224V,Missense_G224V exm364811 3 172013225 [A/G] NM_022763,NM_001135095 FNDC3B,FNDC3B EXON Missense_S308G,Missense_S308G exm364830 3 172046841 [T/G] NM_022763,NM_001135095 FNDC3B,FNDC3B EXON Missense_A452S,Missense_A452S exm364831 3 172046848 [A/G] NM_022763,NM_001135095 FNDC3B,FNDC3B EXON Missense_R454Q,Missense_R454Q exm2255837 3 172046861 [T/C] NM_022763,NM_001135095 FNDC3B,FNDC3B EXON Synonymous_G458G,Synonymous_G458G exm364833 3 172046861 [T/C] NM_022763,NM_001135095 FNDC3B,FNDC3B EXON Synonymous_G458G,Synonymous_G458G exm2044010 3 172048389 [A/G] NM_022763,NM_001135095 FNDC3B,FNDC3B EXON Missense_A480T,Missense_A480T exm364864 3 172058948 [T/C] NM_022763,NM_001135095 FNDC3B,FNDC3B EXON Missense_T633I,Missense_T633I exm364866 3 172060816 [T/C] NM_022763,NM_001135095 FNDC3B,FNDC3B EXON Missense_P663S,Missense_P663S exm364868 3 172060822 [T/C] NM_022763,NM_001135095 FNDC3B,FNDC3B EXON Missense_R665C,Missense_R665C exm364873 3 172060880 [A/C] NM_022763,NM_001135095 FNDC3B,FNDC3B EXON Missense_K684T,Missense_K684T exm364880 3 172061938 [A/G] NM_022763,NM_001135095 FNDC3B,FNDC3B EXON Missense_E714K,Missense_E714K exm364897 3 172064180 [A/G] NM_022763,NM_001135095 FNDC3B,FNDC3B EXON Missense_A772T,Missense_A772T exm364898 3 172064181 [G/C] NM_022763,NM_001135095 FNDC3B,FNDC3B EXON Missense_A772G,Missense_A772G exm364908 3 172070600 [A/G] NM_022763,NM_001135095 FNDC3B,FNDC3B EXON Missense_N841S,Missense_N841S exm364910 3 172070611 [A/G] NM_022763,NM_001135095 FNDC3B,FNDC3B EXON Missense_A845T,Missense_A845T exm364913 3 172070645 [T/C] NM_022763,NM_001135095 FNDC3B,FNDC3B EXON Missense_T856M,Missense_T856M exm364917 3 172070668 [A/G] NM_022763,NM_001135095 FNDC3B,FNDC3B EXON Missense_V864I,Missense_V864I exm364919 3 172070729 [T/C] NM_022763,NM_001135095 FNDC3B,FNDC3B EXON Missense_A884V,Missense_A884V exm364927 3 172070873 [A/G] NM_022763,NM_001135095 FNDC3B,FNDC3B EXON Missense_R932Q,Missense_R932Q exm364929 3 172080594 [C/G] NM_022763,NM_001135095 FNDC3B,FNDC3B EXON Missense_E989D,Missense_E989D exm2044051 3 172096188 [A/C] NM_022763,NM_001135095 FNDC3B,FNDC3B EXON Missense_T1046N,Missense_T1046N exm364938 3 172098778 [A/C] NM_022763,NM_001135095 FNDC3B,FNDC3B EXON Missense_E1066D,Missense_E1066D exm2265641 3 172102173 [A/G] NM_022763,NM_001135095 FNDC3B,FNDC3B Silent,Silent exm364948 3 172115105 [A/G] NM_022763,NM_001135095 FNDC3B,FNDC3B EXON Missense_R1152Q,Missense_R1152Q exm364953 3 172162980 [T/C] NM_198407 GHSR EXON Missense_A358T exm364954 3 172162982 [T/C] NM_198407 GHSR EXON Missense_R357Q exm2044058 3 172163205 [A/G] NM_198407 GHSR EXON Nonsense_R283X exm364965 3 172163235 [T/C] NM_198407 GHSR EXON Missense_I273V exm364975 3 172165449 [A/G] NM_198407,NM_004122 GHSR,GHSR EXON Missense_S252L,Missense_S252L exm364976 3 172165495 [A/T] NM_198407,NM_004122 GHSR,GHSR EXON Missense_R237W,Missense_R237W exm-rs572169 3 172165727 [T/C] NM_198407,NM_004122 GHSR,GHSR EXON Synonymous_R159R,Synonymous_R159R exm364995 3 172165933 [A/G] NM_198407,NM_004122 GHSR,GHSR EXON Missense_L91F,Missense_L91F exm365003 3 172166080 [C/G] NM_198407,NM_004122 GHSR,GHSR EXON Missense_L42V,Missense_L42V exm365019 3 172224402 [C/G] NM_001190942,NR_033994,NM_003810 TNFSF10,TNFSF10,TNFSF10 EXON Silent,Silent,Missense_I242M exm365035 3 172232659 [T/C] NM_001190942,NR_033994,NM_003810 TNFSF10,TNFSF10,TNFSF10 EXON Missense_V88I,Silent,Missense_V88I exm365036 3 172232682 [A/G] NM_001190942,NR_033994,NM_003810 TNFSF10,TNFSF10,TNFSF10 EXON Missense_V80A,Silent,Missense_V80A exm365041 3 172232758 [T/C] NM_001190942,NR_033994,NM_003810 TNFSF10,TNFSF10,TNFSF10 EXON Missense_A55T,Silent,Missense_A55T exm365042 3 172232780 [T/G] NM_001190942,NR_033994,NM_003810 TNFSF10,TNFSF10,TNFSF10 EXON Missense_D47E,Silent,Missense_D47E exm-rs231983 3 172236440 [T/G] NM_001190942,NR_033994,NM_003810,NM_001190943 TNFSF10,TNFSF10,TNFSF10,TNFSF10 Silent,Silent,Silent,Silent exm365044 3 172241054 [T/C] NM_001190942,NR_033994,NM_003810,NM_001190943 TNFSF10,TNFSF10,TNFSF10,TNFSF10 EXON Missense_E41K,Silent,Missense_E41K,Missense_E41K exm365048 3 172241078 [T/C] NM_001190942,NR_033994,NM_003810,NM_001190943 TNFSF10,TNFSF10,TNFSF10,TNFSF10 EXON Missense_V33I,Silent,Missense_V33I,Missense_V33I exm2255840 3 172351370 [T/C] NM_020792,NM_001146278,NM_001146277,NM_001146276 NCEH1,NCEH1,NCEH1,NCEH1 EXON Synonymous_E406E,Synonymous_E241E,Synonymous_E241E,Synonymous_E414E exm365057 3 172351370 [T/C] NM_020792,NM_001146278,NM_001146277,NM_001146276 NCEH1,NCEH1,NCEH1,NCEH1 EXON Synonymous_E406E,Synonymous_E241E,Synonymous_E241E,Synonymous_E414E exm2255841 3 172351481 [A/G] NM_020792,NM_001146278,NM_001146277,NM_001146276 NCEH1,NCEH1,NCEH1,NCEH1 EXON Synonymous_L369L,Synonymous_L204L,Synonymous_L204L,Synonymous_L377L exm365066 3 172351638 [T/C] NM_020792,NM_001146278,NM_001146277,NM_001146276 NCEH1,NCEH1,NCEH1,NCEH1 EXON Missense_R317H,Missense_R152H,Missense_R152H,Missense_R325H exm365071 3 172351716 [T/C] NM_020792,NM_001146278,NM_001146277,NM_001146276 NCEH1,NCEH1,NCEH1,NCEH1 EXON Missense_N291S,Missense_N126S,Missense_N126S,Missense_N299S exm365081 3 172353780 [T/C] NM_020792,NM_001146278,NM_001146277,NM_001146276 NCEH1,NCEH1,NCEH1,NCEH1 EXON Missense_M211V,Missense_M46V,Missense_M46V,Missense_M219V exm365098 3 172365823 [T/C] NM_020792,NM_001146278,NM_001146277,NM_001146276 NCEH1,NCEH1,NCEH1,NCEH1 EXON Missense_A106T,Silent,Silent,Missense_A106T exm365100 3 172365832 [T/G] NM_020792,NM_001146278,NM_001146277,NM_001146276 NCEH1,NCEH1,NCEH1,NCEH1 EXON Missense_K103Q,Silent,Silent,Missense_K103Q exm365103 3 172365888 [T/C] NM_020792,NM_001146278,NM_001146277,NM_001146276 NCEH1,NCEH1,NCEH1,NCEH1 EXON Missense_Y84C,Silent,Silent,Missense_Y84C exm2265529 3 172376607 [A/G] NM_020792,NM_001146278,NM_001146277,NM_001146276 NCEH1,NCEH1,NCEH1,NCEH1 Silent,Silent,Silent,Silent exm365106 3 172428782 [T/C] NM_020792,NM_001146278,NM_001146277,NM_001146276 NCEH1,NCEH1,NCEH1,NCEH1 EXON Missense_Q30R,Silent,Silent,Missense_Q30R exm2269689 3 172462291 [T/C] exm365114 3 172472364 [C/G] NM_018098,NM_001258316,NM_001258315 ECT2,ECT2,ECT2 EXON Missense_S15T,Missense_S15T,Missense_S15T exm365115 3 172472400 [T/C] NM_018098,NM_001258316,NM_001258315 ECT2,ECT2,ECT2 EXON Missense_T27I,Missense_T27I,Missense_T27I exm365133 3 172477950 [T/G] NM_018098,NM_001258316,NM_001258315 ECT2,ECT2,ECT2 EXON Missense_R163M,Missense_R163M,Missense_R194M exm365143 3 172480214 [A/G] NM_018098,NM_001258316,NM_001258315 ECT2,ECT2,ECT2 EXON Missense_Y225C,Missense_Y225C,Missense_Y256C exm365148 3 172480522 [G/C] NM_018098,NM_001258316,NM_001258315 ECT2,ECT2,ECT2 EXON Missense_L280V,Missense_L280V,Missense_L311V exm365152 3 172480580 [A/G] NM_018098,NM_001258316,NM_001258315 ECT2,ECT2,ECT2 EXON Missense_Y299C,Missense_Y299C,Missense_Y330C exm365160 3 172482204 [A/G] NM_018098,NM_001258316,NM_001258315 ECT2,ECT2,ECT2 EXON Missense_R371H,Missense_R371H,Missense_R402H exm365175 3 172499996 [A/G] NM_018098,NM_001258316,NM_001258315 ECT2,ECT2,ECT2 EXON Missense_S500N,Missense_S500N,Missense_S531N exm365181 3 172504364 [T/C] NM_018098,NM_001258316,NM_001258315 ECT2,ECT2,ECT2 EXON Missense_T605M,Missense_T605M,Missense_T636M exm2044143 3 172520432 [T/C] NM_018098,NM_001258316,NM_001258315 ECT2,ECT2,ECT2 EXON Missense_T614I,Missense_T614I,Missense_T645I exm365195 3 172534520 [A/G] NM_018098,NM_001258316,NM_001258315 ECT2,ECT2,ECT2 EXON Missense_A819T,Missense_A819T,Missense_A850T exm2269571 3 172589869 [T/G] exm365204 3 172607362 [A/G] NM_031955 SPATA16 EXON Missense_X570Q exm365205 3 172607363 [C/G] NM_031955 SPATA16 EXON Missense_R569S exm365207 3 172607410 [A/G] NM_031955 SPATA16 EXON Nonsense_R554X exm365210 3 172631461 [A/G] NM_031955 SPATA16 EXON Missense_M526T exm365216 3 172634209 [A/C] NM_031955 SPATA16 EXON Missense_Q467H exm365243 3 172737276 [T/C] NM_031955 SPATA16 EXON Missense_R283Q exm365245 3 172737324 [T/C] NM_031955 SPATA16 EXON Missense_R267H exm365250 3 172766761 [A/G] NM_031955 SPATA16 EXON Missense_L246F exm2276908 3 172834946 [A/G] NM_031955 SPATA16 EXON Synonymous_Y192Y exm365259 3 172835068 [A/C] NM_031955 SPATA16 EXON Missense_C152G exm365260 3 172835082 [T/C] NM_031955 SPATA16 EXON Missense_G147E exm365261 3 172835092 [T/G] NM_031955 SPATA16 EXON Missense_M144L exm365263 3 172835116 [A/G] NM_031955 SPATA16 EXON Missense_R136C exm365264 3 172835125 [T/C] NM_031955 SPATA16 EXON Missense_M133V exm365267 3 172835194 [T/G] NM_031955 SPATA16 EXON Missense_M110L exm365273 3 172835271 [T/C] NM_031955 SPATA16 EXON Missense_R84Q exm365274 3 172835290 [T/C] NM_031955 SPATA16 EXON Missense_E78K exm365277 3 172835373 [T/C] NM_031955 SPATA16 EXON Missense_N50S exm365279 3 172835392 [T/A] NM_031955 SPATA16 EXON Missense_S44T exm365280 3 172835393 [T/C] NM_031955 SPATA16 EXON Missense_M43I exm365282 3 172835418 [A/G] NM_031955 SPATA16 EXON Missense_A35V exm365283 3 172835469 [T/C] NM_031955 SPATA16 EXON Missense_H18R exm2255843 3 173276758 [A/G] NM_014932 NLGN1 Silent exm365302 3 173322657 [T/C] NM_014932 NLGN1 EXON Missense_T90I exm365304 3 173322686 [T/C] NM_014932 NLGN1 EXON Missense_P100S exm2269690 3 173469241 [T/C] NM_014932 NLGN1 Silent exm2264017 3 173488137 [A/C] NM_014932 NLGN1 Silent exm365329 3 173993297 [A/G] NM_014932 NLGN1 EXON Missense_R280H exm365332 3 173996704 [A/G] NM_014932 NLGN1 EXON Missense_V305I exm365343 3 173996996 [A/G] NM_014932 NLGN1 EXON Missense_S402N exm2044207 3 173997413 [T/C] NM_014932 NLGN1 EXON Missense_T541I exm365355 3 173998453 [G/C] NM_014932 NLGN1 EXON Missense_P611R exm365365 3 173998768 [A/G] NM_014932 NLGN1 EXON Missense_R716H exm365368 3 173998784 [T/G] NM_014932 NLGN1 EXON Missense_D721E exm-rs13074924 3 174029045 [A/G] exm2265531 3 174131106 [A/G] exm-rs1515596 3 174298999 [T/C] exm-rs2861899 3 174659289 [A/G] NM_207015 NAALADL2 Silent exm2269691 3 174708659 [T/C] NM_207015 NAALADL2 Silent exm365376 3 174814613 [A/G] NM_207015,NR_046390 NAALADL2,NAALADL2-AS3 EXON Missense_D26G,Silent exm365378 3 174814684 [A/T] NM_207015,NR_046390 NAALADL2,NAALADL2-AS3 EXON Missense_W50R,Silent exm365381 3 174814738 [A/G] NM_207015,NR_046390 NAALADL2,NAALADL2-AS3 EXON Missense_G68S,Silent exm365382 3 174814750 [C/G] NM_207015,NR_046390 NAALADL2,NAALADL2-AS3 EXON Missense_Q72E,Silent exm365383 3 174814771 [A/G] NM_207015,NR_046390 NAALADL2,NAALADL2-AS3 EXON Missense_T79A,Silent exm365384 3 174814772 [T/C] NM_207015,NR_046390 NAALADL2,NAALADL2-AS3 EXON Missense_T79I,Silent exm365385 3 174814774 [A/G] NM_207015,NR_046390 NAALADL2,NAALADL2-AS3 EXON Missense_I80V,Silent exm365386 3 174814780 [T/C] NM_207015,NR_046390 NAALADL2,NAALADL2-AS3 EXON Missense_L82F,Silent exm365388 3 174814870 [T/C] NM_207015,NR_046390 NAALADL2,NAALADL2-AS3 EXON Nonsense_R112X,Silent exm365391 3 174814909 [A/G] NM_207015,NR_046390 NAALADL2,NAALADL2-AS3 EXON Missense_V125I,Silent exm365393 3 174814920 [A/G] NM_207015,NR_046390 NAALADL2,NAALADL2-AS3 EXON Missense_I128M,Silent exm2265532 3 174826589 [A/G] NM_207015,NR_046390 NAALADL2,NAALADL2-AS3 Silent,Silent exm-rs17531088 3 174893775 [T/C] NM_207015 NAALADL2 Silent exm365403 3 174951734 [G/C] NM_207015 NAALADL2 EXON Missense_L187V exm365405 3 174951756 [T/C] NM_207015 NAALADL2 EXON Missense_M194T exm365408 3 174951784 [C/G] NM_207015 NAALADL2 EXON Missense_Q203H exm-rs1463525 3 174961387 [T/C] NM_207015 NAALADL2 Silent exm365414 3 174974212 [A/G] NM_207015 NAALADL2 EXON Missense_D278N exm2269572 3 174979751 [T/C] NM_207015 NAALADL2 Silent exm365420 3 175042049 [A/C] NM_207015 NAALADL2 EXON Missense_H342P exm365423 3 175042097 [T/C] NM_207015 NAALADL2 EXON Missense_P358L exm365428 3 175165079 [T/C] NM_207015 NAALADL2 EXON Missense_P385S exm365431 3 175181200 [A/G] NM_207015 NAALADL2 EXON Missense_V416I exm365451 3 175189480 [T/G] NM_207015 NAALADL2 EXON Missense_S529R exm365458 3 175293892 [A/G] NM_207015 NAALADL2 EXON Missense_I573V exm365461 3 175293957 [C/G] NM_207015 NAALADL2 EXON Missense_E594D exm365469 3 175345143 [C/G] NM_207015 NAALADL2 EXON Missense_P622R exm365470 3 175455116 [A/G] NM_207015 NAALADL2 EXON Missense_Q640R exm365475 3 175473047 [T/C] NM_207015 NAALADL2 EXON Missense_L677S exm365480 3 175473134 [A/G] NM_207015 NAALADL2 EXON Missense_R706Q exm2265533 3 175592927 [A/G] exm-rs6772209 3 175647165 [A/G] exm2269692 3 175863867 [T/G] exm-rs6799767 3 176030096 [T/G] exm2269574 3 176368462 [T/C] exm2265534 3 176674598 [A/G] exm2269693 3 176972235 [T/C] exm-rs12629106 3 177095072 [T/C] exm2269575 3 177243737 [T/G] NR_047568 LINC00578 Silent exm-rs644695 3 177291697 [A/G] NR_047568 LINC00578 Silent exm-rs7612209 3 177596989 [A/G] exm2264041 3 177707225 [A/C] exm2265535 3 177744450 [A/G] exm-rs1982821 3 177793107 [T/G] exm2255855 3 178207097 [T/C] exm-rs9290663 3 178429939 [A/T] NM_181361,NM_005832 KCNMB2,KCNMB2 Silent,Silent exm365525 3 178525219 [T/C] NM_181361,NM_005832 KCNMB2,KCNMB2 EXON Missense_R8W,Missense_R8W exm365535 3 178545980 [A/T] NM_181361,NM_005832 KCNMB2,KCNMB2 EXON Missense_E81V,Missense_E81V exm2269577 3 178585678 [T/C] exm365556 3 178742974 [T/C] NM_152240,NM_022470 ZMAT3,ZMAT3 EXON Missense_R233H,Missense_R234H exm365564 3 178745522 [T/G] NM_152240,NM_022470 ZMAT3,ZMAT3 EXON Missense_S157R,Missense_S157R exm365565 3 178745555 [T/C] NM_152240,NM_022470 ZMAT3,ZMAT3 EXON Missense_N146D,Missense_N146D exm365567 3 178745576 [A/G] NM_152240,NM_022470 ZMAT3,ZMAT3 EXON Nonsense_R139X,Nonsense_R139X exm365570 3 178748714 [T/C] NM_152240,NM_022470 ZMAT3,ZMAT3 EXON Missense_N115S,Missense_N115S exm365588 3 178916753 [A/G] NM_006218 PIK3CA EXON Missense_H47R exm365589 3 178916791 [A/C] NM_006218 PIK3CA EXON Missense_Q60K exm365611 3 178922361 [G/C] NM_006218 PIK3CA EXON Missense_P377R exm2255857 3 178937400 [A/G] NM_006218 PIK3CA EXON Synonymous_E596E exm2238961 3 178960744 [T/C] NR_028135,NM_001163677,NM_171830,NM_014407,NM_171829,NM_171828 KCNMB3,KCNMB3,KCNMB3,KCNMB3,KCNMB3,KCNMB3 EXON Silent,Silent,Missense_Q259R,Missense_Q263R,Missense_Q241R,Missense_Q261R exm365663 3 178960843 [A/G] NR_028135,NM_001163677,NM_171830,NM_014407,NM_171829,NM_171828 KCNMB3,KCNMB3,KCNMB3,KCNMB3,KCNMB3,KCNMB3 EXON Silent,Silent,Missense_M226T,Missense_M230T,Missense_M208T,Missense_M228T exm2273981 3 178962380 [T/C] NR_028135,NM_001163677,NM_171830,NM_014407,NM_171829,NM_171828 KCNMB3,KCNMB3,KCNMB3,KCNMB3,KCNMB3,KCNMB3 EXON Silent,Missense_G119E,Missense_G117E,Missense_G121E,Missense_G99E,Missense_G119E exm365677 3 178968543 [T/G] NR_028135,NM_001163677,NM_171830,NM_014407,NM_171829,NM_171828 KCNMB3,KCNMB3,KCNMB3,KCNMB3,KCNMB3,KCNMB3 EXON Silent,Missense_P81H,Missense_P79H,Missense_P83H,Missense_P61H,Missense_P81H exm365678 3 178968568 [A/C] NR_028135,NM_001163677,NM_171830,NM_014407,NM_171829,NM_171828 KCNMB3,KCNMB3,KCNMB3,KCNMB3,KCNMB3,KCNMB3 EXON Silent,Missense_L73V,Missense_L71V,Missense_L75V,Missense_L53V,Missense_L73V exm365682 3 178968634 [T/C] NR_028135,NM_001163677,NM_171830,NM_014407,NM_171829,NM_171828 KCNMB3,KCNMB3,KCNMB3,KCNMB3,KCNMB3,KCNMB3 EXON Silent,Missense_A51T,Missense_A49T,Missense_A53T,Missense_A31T,Missense_A51T exm365684 3 178968660 [T/C] NR_028135,NM_001163677,NM_171830,NM_014407,NM_171829,NM_171828 KCNMB3,KCNMB3,KCNMB3,KCNMB3,KCNMB3,KCNMB3 EXON Silent,Missense_D42G,Missense_D40G,Missense_D44G,Missense_D22G,Missense_D42G exm365690 3 178968848 [A/G] NR_028135,NM_001163677,NM_171830,NM_014407,NM_171829,NM_171828 KCNMB3,KCNMB3,KCNMB3,KCNMB3,KCNMB3,KCNMB3 EXON Silent,Silent,Silent,Missense_A15V,Silent,Silent exm365712 3 179050815 [A/G] NM_016331 ZNF639 EXON Missense_K70E exm365714 3 179051069 [A/G] NM_016331 ZNF639 EXON Missense_D106G exm365719 3 179051170 [A/G] NM_016331 ZNF639 EXON Missense_I140V exm365722 3 179051234 [A/G] NM_016331 ZNF639 EXON Missense_E161G exm365731 3 179051533 [A/C] NM_016331 ZNF639 EXON Missense_I261L exm365738 3 179051810 [A/G] NM_016331 ZNF639 EXON Missense_N353S exm365757 3 179069717 [A/C] NM_033540 MFN1 EXON Missense_I48L exm2238970 3 179082167 [A/G] NM_033540 MFN1 EXON Missense_N207D exm365771 3 179082937 [A/G] NM_033540 MFN1 EXON Missense_R226Q exm2269695 3 179084046 [T/C] NM_033540 MFN1 Silent exm365777 3 179085860 [A/G] NM_033540 MFN1 EXON Missense_Q315R exm365781 3 179093011 [T/C] NM_033540 MFN1 EXON Missense_C327R exm2273982 3 179095227 [A/G] NM_033540 MFN1 EXON Missense_I440M exm2044405 3 179096187 [T/A] NM_033540 MFN1 EXON Missense_D463V exm365801 3 179096508 [G/C] NM_033540 MFN1 EXON Missense_P523R exm365803 3 179096602 [C/G] NM_033540 MFN1 EXON Missense_Q554H exm365811 3 179103483 [A/G] NM_033540 MFN1 EXON Missense_M597V exm2238973 3 179104294 [A/G] NM_033540 MFN1 EXON Missense_R630K exm365817 3 179104398 [T/G] NM_033540 MFN1 EXON Missense_C665G exm365826 3 179119066 [T/C] NM_021629 GNB4 EXON Missense_V320I exm365829 3 179122998 [A/G] NM_021629 GNB4 EXON Missense_T299M exm365837 3 179131231 [A/G] NM_021629 GNB4 EXON Missense_T223M exm365862 3 179143945 [T/C] NM_021629 GNB4 EXON Missense_R15Q exm2264018 3 179162316 [A/C] NM_021629 GNB4 Silent exm365872 3 179287647 [T/C] NM_177989,NM_178042,NM_004301 ACTL6A,ACTL6A,ACTL6A EXON Silent,Silent,Missense_Y21H exm365875 3 179287945 [A/G] NM_177989,NM_178042,NM_004301 ACTL6A,ACTL6A,ACTL6A EXON Missense_G23S,Missense_G23S,Missense_G65S exm365887 3 179294052 [T/C] NM_177989,NM_178042,NM_004301 ACTL6A,ACTL6A,ACTL6A EXON Missense_T133I,Missense_T133I,Missense_T175I exm365893 3 179294488 [A/G] NM_177989,NM_178042,NM_004301 ACTL6A,ACTL6A,ACTL6A EXON Missense_V176I,Missense_V176I,Missense_V218I exm365894 3 179294509 [A/T] NM_177989,NM_178042,NM_004301 ACTL6A,ACTL6A,ACTL6A EXON Missense_S183T,Missense_S183T,Missense_S225T exm2255859 3 179298481 [T/C] NM_177989,NM_178042,NM_004301 ACTL6A,ACTL6A,ACTL6A EXON Synonymous_Y232Y,Synonymous_Y232Y,Synonymous_Y274Y exm365898 3 179298958 [A/G] NM_177989,NM_178042,NM_004301 ACTL6A,ACTL6A,ACTL6A EXON Missense_S284G,Missense_S284G,Missense_S326G exm365908 3 179304349 [T/G] NM_177989,NM_178042,NM_004301 ACTL6A,ACTL6A,ACTL6A EXON Missense_L338V,Missense_L338V,Missense_L380V exm365915 3 179306748 [T/C] NM_177988,NM_020409 MRPL47,MRPL47 EXON Missense_R112Q,Missense_R222Q exm365916 3 179306775 [T/C] NM_177988,NM_020409 MRPL47,MRPL47 EXON Missense_R103H,Missense_R213H exm2044461 3 179311676 [A/T] NM_177988,NM_020409 MRPL47,MRPL47 EXON Missense_D27V,Missense_D137V exm2044474 3 179320544 [A/G] NM_177988,NM_020409 MRPL47,MRPL47 EXON Silent,Missense_T47I exm365939 3 179322385 [A/C] NM_177988,NM_020409 MRPL47,MRPL47 EXON Silent,Missense_C10G exm365947 3 179322703 [A/C] NM_001199957,NM_001199958,NM_002492 NDUFB5,NDUFB5,NDUFB5 EXON Missense_T34P,Missense_T34P,Missense_T34P exm365949 3 179332803 [T/A] NM_001199957,NM_001199958,NM_002492 NDUFB5,NDUFB5,NDUFB5 EXON Silent,Missense_I57F,Missense_I57F exm365957 3 179336239 [T/G] NM_001199957,NM_001199958,NM_002492 NDUFB5,NDUFB5,NDUFB5 EXON Missense_D75Y,Silent,Missense_D127Y exm2238976 3 179336257 [T/C] NM_001199957,NM_001199958,NM_002492 NDUFB5,NDUFB5,NDUFB5 EXON Missense_Y81H,Silent,Missense_Y133H exm365965 3 179341806 [T/C] NM_001199957,NM_001199958,NM_002492 NDUFB5,NDUFB5,NDUFB5 EXON Missense_P131L,Silent,Missense_P183L exm365980 3 179371108 [T/G] NM_003940 USP13 EXON Missense_M32R exm365992 3 179408054 [T/C] NM_003940 USP13 EXON Missense_A107V exm365994 3 179408086 [A/T] NM_003940 USP13 EXON Missense_L118I exm366004 3 179424788 [T/C] NM_003940 USP13 EXON Missense_W182R exm366016 3 179426674 [T/C] NM_003940 USP13 EXON Missense_A245V exm366024 3 179439202 [T/C] NM_003940 USP13 EXON Missense_L305F exm366041 3 179460042 [T/C] NM_003940 USP13 EXON Missense_R480C exm366042 3 179460063 [T/C] NM_003940 USP13 EXON Missense_R487W exm366044 3 179460087 [A/G] NM_003940 USP13 EXON Missense_V495M exm366050 3 179462842 [G/C] NM_003940 USP13 EXON Missense_A516P exm366052 3 179462893 [G/C] NM_003940 USP13 EXON Missense_E533Q exm366058 3 179472612 [A/C] NM_003940 USP13 EXON Missense_P631T exm366069 3 179474867 [A/G] NM_003940 USP13 Silent exm366079 3 179483498 [A/G] NM_003940 USP13 EXON Missense_R759G exm366084 3 179501900 [A/G] NM_003940 USP13 EXON Missense_M855V exm366110 3 179527283 [T/C] NM_001256756,NM_001256753,NM_001256751,NM_001256755,NM_001256754,NM_016559,NM_001256750,NM_001256752 PEX5L,PEX5L,PEX5L,PEX5L,PEX5L,PEX5L,PEX5L,PEX5L EXON Missense_R251Q,Missense_R384Q,Missense_R419Q,Missense_R335Q,Missense_R400Q,Missense_R443Q,Missense_R441Q,Missense_R408Q exm366115 3 179527320 [G/C] NM_001256756,NM_001256753,NM_001256751,NM_001256755,NM_001256754,NM_016559,NM_001256750,NM_001256752 PEX5L,PEX5L,PEX5L,PEX5L,PEX5L,PEX5L,PEX5L,PEX5L EXON Missense_V239L,Missense_V372L,Missense_V407L,Missense_V323L,Missense_V388L,Missense_V431L,Missense_V429L,Missense_V396L exm366121 3 179529649 [A/C] NM_001256756,NM_001256753,NM_001256751,NM_001256755,NM_001256754,NM_016559,NM_001256750,NM_001256752 PEX5L,PEX5L,PEX5L,PEX5L,PEX5L,PEX5L,PEX5L,PEX5L EXON Missense_F173C,Missense_F306C,Missense_F341C,Missense_F257C,Missense_F322C,Missense_F365C,Missense_F363C,Missense_F330C exm366128 3 179537671 [C/G] NM_001256756,NM_001256753,NM_001256751,NM_001256755,NM_001256754,NM_016559,NM_001256750,NM_001256752 PEX5L,PEX5L,PEX5L,PEX5L,PEX5L,PEX5L,PEX5L,PEX5L EXON Missense_V114L,Missense_V247L,Missense_V282L,Missense_V198L,Missense_V263L,Missense_V306L,Missense_V304L,Missense_V271L exm366142 3 179576912 [T/C] NM_001256756,NM_001256753,NM_001256751,NM_001256755,NM_001256754,NM_016559,NM_001256750,NM_001256752 PEX5L,PEX5L,PEX5L,PEX5L,PEX5L,PEX5L,PEX5L,PEX5L EXON Missense_A62T,Missense_A195T,Missense_A230T,Missense_A146T,Missense_A211T,Missense_A254T,Missense_A252T,Missense_A219T exm366144 3 179592147 [C/G] NM_001256756,NM_001256753,NM_001256751,NM_001256755,NM_001256754,NM_016559,NM_001256750,NM_001256752 PEX5L,PEX5L,PEX5L,PEX5L,PEX5L,PEX5L,PEX5L,PEX5L EXON Missense_A40P,Missense_A173P,Missense_A208P,Missense_A124P,Missense_A189P,Missense_A232P,Missense_A230P,Missense_A197P exm366164 3 179597912 [A/C] NM_001256756,NM_001256753,NM_001256751,NM_001256755,NM_001256754,NM_016559,NM_001256750,NM_001256752 PEX5L,PEX5L,PEX5L,PEX5L,PEX5L,PEX5L,PEX5L,PEX5L Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm366165 3 179605493 [A/G] NM_001256756,NM_001256753,NM_001256751,NM_001256755,NM_001256754,NM_016559,NM_001256750,NM_001256752 PEX5L,PEX5L,PEX5L,PEX5L,PEX5L,PEX5L,PEX5L,PEX5L EXON Silent,Missense_A34V,Missense_A69V,Missense_A50V,Missense_A50V,Missense_A93V,Missense_A91V,Missense_A58V exm366171 3 179615983 [T/G] NM_001256756,NM_001256753,NM_001256751,NM_001256755,NM_001256754,NM_016559,NM_001256750,NM_001256752 PEX5L,PEX5L,PEX5L,PEX5L,PEX5L,PEX5L,PEX5L,PEX5L EXON Silent,Silent,Missense_I25L,Missense_I6L,Missense_I6L,Missense_I49L,Missense_I47L,Silent exm-rs7630877 3 179661318 [A/G] NM_001256756,NM_001256753,NM_001256751,NM_001256755,NM_001256754,NM_016559,NM_001256750,NM_001256752 PEX5L,PEX5L,PEX5L,PEX5L,PEX5L,PEX5L,PEX5L,PEX5L Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm2265536 3 180022614 [A/G] exm2269696 3 180104190 [T/C] exm366184 3 180320085 [C/G] NM_001042601,NM_133462 TTC14,TTC14 EXON Missense_C12W,Missense_C12W exm366186 3 180320132 [A/G] NM_001042601,NM_133462 TTC14,TTC14 EXON Missense_N28S,Missense_N28S exm366192 3 180320704 [T/G] NM_001042601,NM_133462 TTC14,TTC14 EXON Nonsense_E63X,Nonsense_E63X exm366193 3 180320723 [T/C] NM_001042601,NM_133462 TTC14,TTC14 EXON Missense_S69F,Missense_S69F exm366201 3 180320969 [A/G] NM_001042601,NM_133462 TTC14,TTC14 EXON Missense_R115Q,Missense_R115Q exm366206 3 180321090 [T/G] NM_001042601,NM_133462 TTC14,TTC14 EXON Missense_D155E,Missense_D155E exm366209 3 180322041 [T/C] NM_001042601,NM_133462 TTC14,TTC14 EXON Missense_S172F,Missense_S172F exm366221 3 180322741 [A/G] NM_001042601,NM_133462 TTC14,TTC14 EXON Missense_E268G,Missense_E268G exm366232 3 180324075 [T/C] NM_001042601,NM_133462 TTC14,TTC14 EXON Missense_R322C,Missense_R322C exm366242 3 180325561 [G/C] NM_001042601,NM_133462 TTC14,TTC14 EXON Missense_P433R,Silent exm366246 3 180326538 [A/C] NM_001042601,NM_133462 TTC14,TTC14 EXON Silent,Missense_K447T exm366255 3 180327530 [T/C] NM_001042601,NM_133462 TTC14,TTC14 EXON Silent,Missense_H505Y exm366268 3 180327857 [A/G] NM_001042601,NM_133462 TTC14,TTC14 EXON Silent,Missense_E614K exm366272 3 180327918 [G/C] NM_001042601,NM_133462 TTC14,TTC14 EXON Silent,Missense_C634S exm366274 3 180328025 [A/T] NM_001042601,NM_133462 TTC14,TTC14 EXON Silent,Missense_T670S exm366278 3 180328066 [T/G] NM_001042601,NM_133462 TTC14,TTC14 EXON Silent,Missense_E683D exm366282 3 180328106 [A/G] NM_001042601,NM_133462 TTC14,TTC14 EXON Silent,Missense_S697G exm366284 3 180328142 [A/C] NM_001042601,NM_133462 TTC14,TTC14 EXON Silent,Missense_Q709K exm366285 3 180328194 [T/C] NM_001042601,NM_133462 TTC14,TTC14 EXON Silent,Missense_V726A exm366289 3 180332740 [T/C] NM_181426 CCDC39 EXON Missense_S932N exm366295 3 180334123 [T/G] NM_181426 CCDC39 EXON Missense_T872K exm366296 3 180334332 [T/C] NM_181426 CCDC39 EXON Missense_R853H exm366297 3 180334333 [A/G] NM_181426 CCDC39 EXON Missense_R853C exm366300 3 180334342 [T/C] NM_181426 CCDC39 EXON Missense_T850A exm366301 3 180334356 [A/G] NM_181426 CCDC39 EXON Missense_I845T exm366302 3 180334458 [T/C] NM_181426 CCDC39 EXON Missense_R811H exm366314 3 180337082 [G/C] NM_181426 CCDC39 EXON Missense_Q744E exm366320 3 180337700 [T/C] NM_181426 CCDC39 EXON Missense_N686S exm366323 3 180349284 [A/C] NM_181426 CCDC39 EXON Missense_E657D exm366324 3 180349286 [T/C] NM_181426 CCDC39 EXON Missense_E657K exm366330 3 180349370 [A/G] NM_181426 CCDC39 EXON Missense_R629C exm366331 3 180359790 [T/C] NM_181426 CCDC39 EXON Missense_E622G exm366337 3 180359860 [A/G] NM_181426 CCDC39 EXON Nonsense_R599X exm366338 3 180359874 [A/G] NM_181426 CCDC39 EXON Missense_T594I exm366352 3 180364961 [T/C] NM_181426 CCDC39 EXON Missense_Q478R exm366353 3 180364994 [T/C] NM_181426 CCDC39 EXON Missense_R467Q exm366359 3 180366117 [A/C] NM_181426 CCDC39 EXON Missense_G400C exm366362 3 180369283 [A/G] NM_181426 CCDC39 EXON Missense_T358I exm366369 3 180372580 [T/A] NM_181426 CCDC39 EXON Missense_H300Q exm366371 3 180372600 [T/C] NM_181426 CCDC39 EXON Missense_R294G exm2044633 3 180377260 [T/C] NM_181426 CCDC39 EXON Missense_D240N exm366381 3 180377470 [T/C] NM_181426 CCDC39 EXON Missense_A202T exm366386 3 180377529 [G/C] NM_181426 CCDC39 EXON Missense_T182S exm366388 3 180378402 [C/G] NM_181426 CCDC39 EXON Missense_L158V exm2044639 3 180379699 [A/G] NM_181426 CCDC39 EXON Missense_R103W exm366395 3 180379734 [T/C] NM_181426 CCDC39 EXON Missense_Q91R exm366399 3 180379773 [T/C] NM_181426 CCDC39 EXON Missense_R78H exm366404 3 180397086 [T/G] NM_181426 CCDC39 EXON Missense_E28A exm366405 3 180397101 [T/G] NM_181426 CCDC39 EXON Missense_E23A exm2265537 3 180433381 [A/G] exm-rs6782299 3 180550702 [T/G] exm366444 3 180667018 [T/G] NM_001013439,NM_005087,NM_001013438 FXR1,FXR1,FXR1 EXON Missense_A88S,Missense_A173S,Missense_A173S exm366445 3 180667027 [A/G] NM_001013439,NM_005087,NM_001013438 FXR1,FXR1,FXR1 EXON Missense_A91T,Missense_A176T,Missense_A176T exm366464 3 180685848 [T/C] NM_001013439,NM_005087,NM_001013438 FXR1,FXR1,FXR1 EXON Missense_S318F,Missense_S403F,Missense_S403F exm366465 3 180685872 [T/C] NM_001013439,NM_005087,NM_001013438 FXR1,FXR1,FXR1 EXON Missense_T326M,Missense_T411M,Missense_T411M exm2044683 3 180693182 [A/G] NM_001013439,NM_005087,NM_001013438 FXR1,FXR1,FXR1 EXON Missense_K477R,Missense_K562R,Silent exm366481 3 180693932 [A/G] NM_001013439,NM_005087,NM_001013438 FXR1,FXR1,FXR1 EXON Missense_H488R,Missense_H573R,Silent exm366484 3 180693946 [A/G] NM_001013439,NM_005087,NM_001013438 FXR1,FXR1,FXR1 EXON Missense_K493E,Missense_K578E,Silent exm366487 3 180693973 [T/C] NM_001013439,NM_005087,NM_001013438 FXR1,FXR1,FXR1 EXON Missense_S502P,Missense_S587P,Silent exm366490 3 180694006 [A/C] NM_001013439,NM_005087,NM_001013438 FXR1,FXR1,FXR1 EXON Missense_P513T,Missense_P598T,Silent exm2264042 3 180932119 [A/C] NR_075091,NR_075092,NR_075093 SOX2-OT,SOX2-OT,SOX2-OT Silent,Silent,Silent exm2269579 3 181020115 [T/C] NR_075091,NR_075092,NR_075093 SOX2-OT,SOX2-OT,SOX2-OT Silent,Silent,Silent exm2044701 3 181430799 [T/G] NR_075091,NR_075092,NR_075093,NR_004053,NR_075090,NR_075089,NM_003106 SOX2-OT,SOX2-OT,SOX2-OT,SOX2-OT,SOX2-OT,SOX2-OT,SOX2 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_M217I exm2255864 3 181638250 [A/G] exm2261447 3 181752619 [A/G] exm2269580 3 182132383 [T/C] exm2269581 3 182412605 [T/C] exm366556 3 182538065 [T/G] NM_014616 ATP11B EXON Missense_H15Q exm366564 3 182553920 [A/G] NM_014616 ATP11B EXON Missense_K138R exm366575 3 182563258 [A/G] NM_014616 ATP11B EXON Synonymous_P239P exm2255867 3 182563258 [A/G] NM_014616 ATP11B EXON Synonymous_P239P exm366579 3 182566330 [T/G] NM_014616 ATP11B EXON Missense_R279L exm366591 3 182583349 [G/C] NM_014616 ATP11B EXON Missense_L436V exm366592 3 182583352 [C/G] NM_014616 ATP11B EXON Missense_V437L exm366596 3 182583466 [T/C] NM_014616 ATP11B EXON Missense_P475S exm366598 3 182584077 [T/G] NM_014616 ATP11B EXON Missense_F489V exm366602 3 182584164 [A/G] NM_014616 ATP11B EXON Missense_A518T exm366610 3 182586930 [A/G] NM_014616 ATP11B EXON Missense_A585T exm366613 3 182587090 [A/T] NM_014616 ATP11B EXON Missense_T613S exm366619 3 182590245 [C/G] NM_014616 ATP11B EXON Missense_Q656H exm366631 3 182591781 [G/C] NM_014616 ATP11B EXON Missense_Q744E exm366633 3 182597321 [T/G] NM_014616 ATP11B EXON Missense_V764L exm366641 3 182602594 [A/G] NM_014616 ATP11B EXON Missense_A855T exm366646 3 182607215 [A/G] NM_014616 ATP11B EXON Missense_R954H exm366647 3 182607311 [A/G] NM_014616 ATP11B EXON Missense_D986G exm366653 3 182615148 [A/G] NM_014616 ATP11B EXON Missense_I1036V exm2044751 3 182616549 [A/G] NM_014616 ATP11B EXON Missense_E1103K exm2265643 3 182664547 [A/G] NM_020640 DCUN1D1 Silent exm366696 3 182733233 [A/G] NM_020166 MCCC1 EXON Missense_S724L exm366697 3 182733255 [T/C] NM_020166 MCCC1 EXON Missense_E717K exm366704 3 182735094 [A/G] NM_020166 MCCC1 EXON Missense_A670V exm366706 3 182737953 [T/C] NM_020166 MCCC1 EXON Missense_G648S exm366715 3 182740266 [T/C] NM_020166 MCCC1 EXON Missense_N603S exm366717 3 182740282 [T/G] NM_020166 MCCC1 EXON Missense_L598M exm366725 3 182743569 [T/A] NM_020166 MCCC1 EXON Missense_N569Y exm366732 3 182755039 [T/C] NM_020166 MCCC1 EXON Missense_A521T exm366734 3 182755101 [T/C] NM_020166 MCCC1 EXON Missense_R500Q exm366735 3 182755108 [A/G] NM_020166 MCCC1 EXON Missense_L498F exm366742 3 182756854 [A/G] NM_020166 MCCC1 EXON Missense_A446V exm366751 3 182759462 [T/C] NM_020166 MCCC1 EXON Missense_Y387C exm-rs10513789 3 182760073 [T/G] NM_020166 MCCC1 Silent exm366761 3 182775100 [A/G] NM_020166 MCCC1 EXON Missense_A291V exm366768 3 182788862 [T/C] NM_020166 MCCC1 EXON Missense_E229G exm366769 3 182789018 [T/C] NM_020166 MCCC1 EXON Missense_V207I exm366774 3 182789102 [T/C] NM_020166 MCCC1 EXON Missense_E179K exm366781 3 182790259 [T/C] NM_020166 MCCC1 EXON Missense_C129Y exm366784 3 182804485 [A/G] NM_020166 MCCC1 EXON Missense_A122V exm366792 3 182810216 [T/G] NM_020166 MCCC1 EXON Missense_N85T exm366798 3 182810333 [T/C] NM_020166 MCCC1 EXON Missense_G46E exm366799 3 182812352 [A/G] NM_020166 MCCC1 EXON Missense_A44V exm366800 3 182812353 [A/C] NM_020166 MCCC1 EXON Missense_A44S exm-rs11711441 3 182821275 [A/G] exm2044828 3 182841990 [A/G] NM_014398 LAMP3 EXON Missense_S377L exm366815 3 182853648 [A/G] NM_014398 LAMP3 EXON Missense_A325V exm366817 3 182853654 [T/G] NM_014398 LAMP3 EXON Missense_K323T exm366818 3 182853661 [T/C] NM_014398 LAMP3 EXON Missense_G321R exm366819 3 182853670 [T/C] NM_014398 LAMP3 EXON Missense_I318V exm366821 3 182858328 [A/G] NM_014398 LAMP3 EXON Missense_P315L exm-rs683395 3 182869818 [A/G] NM_014398 LAMP3 Silent exm366833 3 182870243 [T/C] NM_014398 LAMP3 EXON Missense_A270T exm366845 3 182871667 [A/G] NM_014398 LAMP3 EXON Missense_P188S exm366848 3 182871775 [T/C] NM_014398 LAMP3 EXON Missense_V152I exm2255868 3 182871776 [A/G] NM_014398 LAMP3 EXON Synonymous_T151T exm366857 3 182871964 [T/C] NM_014398 LAMP3 EXON Missense_A89T exm366859 3 182871996 [A/G] NM_014398 LAMP3 EXON Missense_A78V exm366863 3 182872068 [T/G] NM_014398 LAMP3 EXON Missense_Q54P exm366883 3 182897920 [A/G] NM_015078 MCF2L2 EXON Missense_M1015T exm366885 3 182910856 [A/G] NM_015078 MCF2L2 EXON Missense_W983R exm366886 3 182910859 [A/G] NM_015078 MCF2L2 EXON Missense_P982S exm366887 3 182910862 [T/C] NM_015078 MCF2L2 EXON Missense_G981R exm366895 3 182923673 [T/A] NM_015078 MCF2L2 EXON Missense_N959Y exm366908 3 182923984 [A/G] NM_015078 MCF2L2 EXON Missense_R911C exm366911 3 182925404 [T/C] NM_015078 MCF2L2 EXON Missense_T902A exm366920 3 182925541 [T/C] NM_015078 MCF2L2 EXON Missense_R856H exm366921 3 182925542 [A/G] NM_015078 MCF2L2 EXON Missense_R856C exm366932 3 182937700 [A/G] NM_015078 MCF2L2 EXON Missense_F772L exm366941 3 182946129 [A/C] NM_015078 MCF2L2 EXON Missense_C691G exm366948 3 182948757 [A/C] NM_015078 MCF2L2 EXON Missense_E637D exm2238996 3 182948794 [T/C] NM_015078 MCF2L2 EXON Missense_R625H exm366950 3 182948795 [A/G] NM_015078 MCF2L2 EXON Missense_R625C exm366953 3 182987591 [A/G] NM_015078,NM_032047 MCF2L2,B3GNT5 EXON Silent,Missense_R2K exm366958 3 182987801 [A/G] NM_015078,NM_032047 MCF2L2,B3GNT5 EXON Silent,Missense_R72H exm366968 3 182988122 [T/C] NM_015078,NM_032047 MCF2L2,B3GNT5 EXON Silent,Missense_A179V exm366974 3 182988406 [A/G] NM_015078,NM_032047 MCF2L2,B3GNT5 EXON Silent,Missense_T274A exm366977 3 182988469 [A/G] NM_015078,NM_032047 MCF2L2,B3GNT5 EXON Silent,Missense_I295V exm366978 3 182988476 [T/C] NM_015078,NM_032047 MCF2L2,B3GNT5 EXON Silent,Missense_P297L exm366985 3 182994744 [T/C] NM_015078 MCF2L2 EXON Missense_S593N exm366990 3 183006918 [A/G] NM_015078 MCF2L2 EXON Missense_F589S exm366993 3 183006946 [A/G] NM_015078 MCF2L2 EXON Missense_R580W exm366997 3 183006997 [A/G] NM_015078 MCF2L2 EXON Missense_R563C exm367000 3 183013090 [A/G] NM_015078 MCF2L2 EXON Missense_S558L exm367005 3 183014825 [A/G] NM_015078 MCF2L2 EXON Missense_P479L exm367013 3 183017822 [T/A] NM_015078 MCF2L2 EXON Missense_S426T exm367014 3 183017837 [T/C] NM_015078 MCF2L2 EXON Missense_D421N exm367016 3 183017858 [T/C] NM_015078 MCF2L2 EXON Missense_N414D exm367020 3 183017897 [A/G] NM_015078 MCF2L2 EXON Missense_R401W exm367022 3 183017965 [A/T] NM_015078 MCF2L2 EXON Missense_Q378L exm367025 3 183027542 [T/G] NM_015078 MCF2L2 EXON Missense_I359L exm367027 3 183027583 [T/C] NM_015078 MCF2L2 EXON Missense_E345G exm367031 3 183029490 [T/C] NM_015078 MCF2L2 EXON Missense_C275Y exm367046 3 183041127 [T/C] NM_015078 MCF2L2 EXON Missense_N167D exm367051 3 183056598 [A/G] NM_015078 MCF2L2 EXON Missense_T159M exm367055 3 183059354 [T/C] NM_015078 MCF2L2 EXON Missense_V114I exm2269582 3 183074900 [T/C] NM_015078 MCF2L2 Silent exm2269697 3 183091561 [T/C] NM_015078 MCF2L2 Silent exm367061 3 183097166 [A/G] NM_015078 MCF2L2 EXON Missense_T65M exm367067 3 183107557 [T/C] NM_015078 MCF2L2 EXON Missense_M29I exm367077 3 183209738 [C/G] NM_130446 KLHL6 EXON Missense_V615L exm367093 3 183210294 [T/C] NM_130446 KLHL6 EXON Missense_I518V exm367096 3 183210347 [A/G] NM_130446 KLHL6 EXON Missense_A500V exm367114 3 183212068 [A/G] NM_130446 KLHL6 EXON Synonymous_G383G exm367121 3 183217586 [A/C] NM_130446 KLHL6 EXON Missense_M313I exm367122 3 183217602 [T/C] NM_130446 KLHL6 EXON Missense_R308H exm367126 3 183225890 [A/G] NM_130446 KLHL6 EXON Missense_P289L exm367132 3 183225990 [A/T] NM_130446 KLHL6 EXON Missense_Y256N exm367134 3 183226025 [T/C] NM_130446 KLHL6 EXON Missense_R244Q exm367136 3 183226046 [T/G] NM_130446 KLHL6 EXON Missense_E237A exm367139 3 183226078 [G/C] NM_130446 KLHL6 EXON Missense_D226E exm367147 3 183226233 [T/C] NM_130446 KLHL6 EXON Missense_V175I exm367152 3 183226280 [T/C] NM_130446 KLHL6 EXON Missense_D159G exm367153 3 183226281 [T/C] NM_130446 KLHL6 EXON Missense_D159N exm2238999 3 183245688 [A/G] NM_130446 KLHL6 EXON Missense_A135V exm367176 3 183273292 [A/G] NM_130446 KLHL6 EXON Synonymous_D50D exm367182 3 183273440 [T/A] NM_130446 KLHL6 EXON Missense_M1K exm2044970 3 183368734 [A/C] NM_017644 KLHL24 EXON Missense_D197A exm367198 3 183368766 [C/G] NM_017644 KLHL24 EXON Missense_D208H exm367200 3 183368859 [T/C] NM_017644 KLHL24 EXON Missense_R239C exm-rs11917105 3 183371250 [T/G] NM_017644 KLHL24 Silent exm367220 3 183388867 [A/G] NM_017644 KLHL24 EXON Missense_V424I exm367224 3 183388945 [A/G] NM_017644 KLHL24 EXON Missense_T450A exm367228 3 183390138 [A/G] NM_017644 KLHL24 EXON Missense_I490V exm2044986 3 183396973 [T/G] NM_017644 KLHL24 EXON Missense_A568S exm367239 3 183432967 [A/G] NM_018023 YEATS2 EXON Missense_R6Q exm367256 3 183442219 [A/G] NM_018023 YEATS2 EXON Missense_I184V exm367258 3 183442244 [A/G] NM_018023 YEATS2 EXON Missense_Q192R exm367259 3 183442247 [A/G] NM_018023 YEATS2 EXON Missense_R193Q exm367260 3 183442258 [T/C] NM_018023 YEATS2 EXON Missense_L197F exm2045012 3 183469906 [A/G] NM_018023 YEATS2 EXON Missense_I339V exm367276 3 183469912 [T/C] NM_018023 YEATS2 EXON Missense_P341S exm367288 3 183472043 [T/C] NM_018023 YEATS2 EXON Missense_F427S exm2045020 3 183474381 [A/G] NM_018023 YEATS2 EXON Missense_V486M exm367298 3 183474410 [T/G] NM_018023 YEATS2 EXON Missense_I495M exm367299 3 183474412 [A/G] NM_018023 YEATS2 EXON Missense_N496S exm367301 3 183474466 [T/C] NM_018023 YEATS2 EXON Missense_T514I exm367306 3 183476676 [T/G] NM_018023 YEATS2 EXON Missense_A527S exm367307 3 183476685 [A/G] NM_018023 YEATS2 EXON Missense_V530I exm367308 3 183476697 [A/G] NM_018023 YEATS2 EXON Missense_T534A exm2045024 3 183476698 [A/C] NM_018023 YEATS2 EXON Missense_T534K exm367315 3 183479940 [T/C] NM_018023 YEATS2 EXON Missense_A607V exm367320 3 183480014 [A/G] NM_018023 YEATS2 EXON Missense_V632I exm367323 3 183490222 [T/G] NM_018023 YEATS2 EXON Missense_V693L exm367324 3 183491429 [A/G] NM_018023 YEATS2 EXON Missense_T739A exm367349 3 183503988 [G/C] NM_018023 YEATS2 EXON Missense_L938V exm2255870 3 183508590 [A/G] NM_018023 YEATS2 EXON Synonymous_E973E exm367354 3 183508650 [T/G] NM_018023 YEATS2 EXON Missense_Q993H exm367356 3 183508669 [A/G] NM_018023 YEATS2 EXON Missense_A1000T exm367357 3 183508675 [A/G] NM_018023 YEATS2 EXON Missense_V1002M exm367360 3 183508714 [A/G] NM_018023 YEATS2 EXON Missense_A1015T exm367362 3 183508767 [T/C] NM_018023 YEATS2 EXON Synonymous_S1032S exm367368 3 183515791 [A/G] NM_018023 YEATS2 EXON Missense_V1060I exm367376 3 183516747 [T/C] NM_018023 YEATS2 EXON Missense_P1099S exm367379 3 183518281 [G/C] NM_018023 YEATS2 EXON Missense_P1118R exm367381 3 183518289 [G/C] NM_018023 YEATS2 EXON Missense_L1121V exm367382 3 183518290 [T/C] NM_018023 YEATS2 EXON Missense_L1121P exm2045078 3 183521887 [T/G] NM_018023 YEATS2 EXON Missense_C1232F exm2045082 3 183524803 [A/G] NM_018023 YEATS2 EXON Missense_E1312K exm2265539 3 183535763 [A/G] NM_024871 MAP6D1 Silent exm367438 3 183535790 [T/C] NM_024871 MAP6D1 EXON Missense_G171S exm367455 3 183547415 [T/C] NM_018622,NM_001037639 PARL,PARL EXON Missense_G371S,Missense_G321S exm2045098 3 183551310 [A/G] NM_018622,NM_001037639 PARL,PARL EXON Missense_A333V,Missense_A283V exm367464 3 183551528 [A/G] NM_018622,NM_001037639 PARL,PARL EXON Missense_T305M,Missense_T255M exm367468 3 183558402 [C/G] NM_018622,NM_001037639 PARL,PARL EXON Missense_V262L,Missense_V212L exm367491 3 183585700 [A/G] NM_018622,NM_001037639 PARL,PARL EXON Missense_P92S,Missense_P92S exm367494 3 183585766 [T/C] NM_018622,NM_001037639 PARL,PARL EXON Missense_S70G,Missense_S70G exm367497 3 183585807 [A/G] NM_018622,NM_001037639 PARL,PARL EXON Missense_A56V,Missense_A56V exm367501 3 183602607 [T/C] NM_018622,NM_001037639 PARL,PARL EXON Missense_G10S,Missense_G10S exm367529 3 183665155 [T/A] NM_005688 ABCC5 EXON Missense_I1124N exm2045130 3 183665213 [T/G] NM_005688 ABCC5 EXON Missense_I1105L exm367538 3 183667631 [A/G] NM_005688 ABCC5 EXON Missense_T1046M exm367600 3 183689586 [A/G] NM_005688 ABCC5 EXON Missense_S509L exm367603 3 183689610 [T/G] NM_005688 ABCC5 EXON Missense_S501Y exm367611 3 183699516 [T/C] NM_005688 ABCC5 EXON Synonymous_Q382Q exm367616 3 183700316 [T/C] NM_005688 ABCC5 EXON Missense_M308V exm367627 3 183700704 [A/G] NM_005688 ABCC5 EXON Missense_T228M exm367657 3 183732053 [A/G] NM_005688,NM_001023587 ABCC5,ABCC5 EXON Missense_P43L,Missense_P43L exm367658 3 183732056 [T/C] NM_005688,NM_001023587 ABCC5,ABCC5 EXON Missense_R42Q,Missense_R42Q exm367661 3 183732084 [A/G] NM_005688,NM_001023587 ABCC5,ABCC5 EXON Missense_R33C,Missense_R33C exm367674 3 183752964 [A/C] NM_182537,NM_001145143,NM_001163646 HTR3D,HTR3D,HTR3D EXON Silent,Silent,Synonymous_R80R exm367676 3 183753777 [A/G] NM_182537,NM_001145143,NM_001163646 HTR3D,HTR3D,HTR3D EXON Silent,Silent,Missense_R90Q exm367679 3 183753843 [T/C] NM_182537,NM_001145143,NM_001163646 HTR3D,HTR3D,HTR3D EXON Silent,Missense_M51T,Missense_M112T exm367680 3 183753872 [A/G] NM_182537,NM_001145143,NM_001163646 HTR3D,HTR3D,HTR3D EXON Silent,Missense_V61I,Missense_V122I exm367683 3 183754255 [A/C] NM_182537,NM_001145143,NM_001163646 HTR3D,HTR3D,HTR3D EXON Missense_A23E,Missense_A97E,Missense_A158E exm367684 3 183754267 [T/C] NM_182537,NM_001145143,NM_001163646 HTR3D,HTR3D,HTR3D EXON Missense_P27L,Missense_P101L,Missense_P162L exm367685 3 183754278 [G/C] NM_182537,NM_001145143,NM_001163646 HTR3D,HTR3D,HTR3D EXON Missense_P31A,Missense_P105A,Missense_P166A exm367686 3 183754294 [G/C] NM_182537,NM_001145143,NM_001163646 HTR3D,HTR3D,HTR3D EXON Missense_G36A,Missense_G110A,Silent exm367688 3 183754300 [A/G] NM_182537,NM_001145143,NM_001163646 HTR3D,HTR3D,HTR3D EXON Missense_R38H,Missense_R112H,Silent exm367694 3 183755809 [T/G] NM_182537,NM_001145143,NM_001163646 HTR3D,HTR3D,HTR3D EXON Missense_V48L,Missense_V173L,Missense_V221L exm367696 3 183755822 [A/G] NM_182537,NM_001145143,NM_001163646 HTR3D,HTR3D,HTR3D EXON Missense_R52H,Missense_R177H,Missense_R225H exm367700 3 183755887 [A/G] NM_182537,NM_001145143,NM_001163646 HTR3D,HTR3D,HTR3D EXON Missense_D74N,Missense_D199N,Missense_D247N exm367701 3 183755948 [T/C] NM_182537,NM_001145143,NM_001163646 HTR3D,HTR3D,HTR3D EXON Missense_V94A,Missense_V219A,Missense_V267A exm367705 3 183756056 [A/G] NM_182537,NM_001145143,NM_001163646 HTR3D,HTR3D,HTR3D EXON Missense_K130R,Missense_K255R,Silent exm367706 3 183756058 [T/C] NM_182537,NM_001145143,NM_001163646 HTR3D,HTR3D,HTR3D EXON Nonsense_R131X,Nonsense_R256X,Silent exm2045198 3 183756062 [T/G] NM_182537,NM_001145143,NM_001163646 HTR3D,HTR3D,HTR3D Silent,Silent,Silent exm367718 3 183756412 [A/G] NM_182537,NM_001145143,NM_001163646 HTR3D,HTR3D,HTR3D EXON Missense_G204S,Missense_G329S,Missense_G379S exm367745 3 183772514 [A/G] NM_130770 HTR3C EXON Missense_G25S exm367768 3 183774074 [T/C] NM_130770 HTR3C EXON Missense_S130F exm2273983 3 183774688 [A/G] NM_130770 HTR3C EXON Missense_G139S exm367775 3 183774713 [A/G] NM_130770 HTR3C EXON Missense_E147G exm367778 3 183774749 [A/C] NM_130770 HTR3C EXON Missense_T159N exm367783 3 183774829 [A/G] NM_130770 HTR3C EXON Missense_T186A exm367803 3 183777627 [A/G] NM_130770 HTR3C EXON Missense_A313T exm367817 3 183777950 [T/C] NM_130770 HTR3C EXON Missense_P385L exm367820 3 183778031 [T/C] NM_130770 HTR3C EXON Missense_M412T exm367822 3 183778075 [T/C] NM_130770 HTR3C EXON Missense_F427L exm367826 3 183778117 [A/G] NM_130770 HTR3C EXON Missense_V441I exm-IND3-185300915 3 183818222 [D/I] NM_001256613,NM_198313,NM_182589,NM_001256614,NM_198314 HTR3E,HTR3E,HTR3E,HTR3E,HTR3E EXON exm367834 3 183818264 [T/C] NM_001256613,NM_198313,NM_182589,NM_001256614,NM_198314 HTR3E,HTR3E,HTR3E,HTR3E,HTR3E EXON Silent,Silent,Missense_S35F,Missense_S35F,Missense_S35F exm367840 3 183818336 [T/C] NM_001256613,NM_198313,NM_182589,NM_001256614,NM_198314 HTR3E,HTR3E,HTR3E,HTR3E,HTR3E EXON Missense_A44V,Missense_A44V,Missense_A59V,Missense_A59V,Missense_A59V exm367845 3 183818416 [A/G] NM_001256613,NM_198313,NM_182589,NM_001256614,NM_198314 HTR3E,HTR3E,HTR3E,HTR3E,HTR3E EXON Missense_A71T,Missense_A71T,Missense_A86T,Missense_A86T,Missense_A86T exm367848 3 183819315 [A/G] NM_001256613,NM_198313,NM_182589,NM_001256614,NM_198314 HTR3E,HTR3E,HTR3E,HTR3E,HTR3E EXON Missense_M93V,Silent,Missense_M108V,Silent,Silent exm2045243 3 183822003 [G/C] NM_001256613,NM_198313,NM_182589,NM_001256614,NM_198314 HTR3E,HTR3E,HTR3E,HTR3E,HTR3E EXON Missense_E105Q,Missense_E90Q,Missense_E120Q,Missense_E105Q,Missense_E105Q exm367857 3 183822642 [A/C] NM_001256613,NM_198313,NM_182589,NM_001256614,NM_198314 HTR3E,HTR3E,HTR3E,HTR3E,HTR3E EXON Missense_K153Q,Missense_K138Q,Missense_K168Q,Missense_K179Q,Missense_K153Q exm367862 3 183822699 [A/G] NM_001256613,NM_198313,NM_182589,NM_001256614,NM_198314 HTR3E,HTR3E,HTR3E,HTR3E,HTR3E EXON Missense_D172N,Missense_D157N,Missense_D187N,Missense_D198N,Missense_D172N exm367864 3 183823059 [G/C] NM_001256613,NM_198313,NM_182589,NM_001256614,NM_198314 HTR3E,HTR3E,HTR3E,HTR3E,HTR3E EXON Missense_D188E,Missense_D173E,Missense_D203E,Missense_D214E,Missense_D188E exm367865 3 183823077 [A/G] NM_001256613,NM_198313,NM_182589,NM_001256614,NM_198314 HTR3E,HTR3E,HTR3E,HTR3E,HTR3E EXON Missense_M194I,Missense_M179I,Missense_M209I,Missense_M220I,Missense_M194I exm367868 3 183823112 [A/G] NM_001256613,NM_198313,NM_182589,NM_001256614,NM_198314 HTR3E,HTR3E,HTR3E,HTR3E,HTR3E EXON Missense_R206Q,Missense_R191Q,Missense_R221Q,Missense_R232Q,Missense_R206Q exm367869 3 183823141 [A/G] NM_001256613,NM_198313,NM_182589,NM_001256614,NM_198314 HTR3E,HTR3E,HTR3E,HTR3E,HTR3E EXON Missense_E216K,Missense_E201K,Missense_E231K,Missense_E242K,Missense_E216K exm367879 3 183823703 [A/G] NM_001256613,NM_198313,NM_182589,NM_001256614,NM_198314 HTR3E,HTR3E,HTR3E,HTR3E,HTR3E EXON Missense_V291I,Missense_V276I,Missense_V306I,Missense_V317I,Missense_V291I exm367881 3 183823751 [G/C] NM_001256613,NM_198313,NM_182589,NM_001256614,NM_198314 HTR3E,HTR3E,HTR3E,HTR3E,HTR3E EXON Missense_L307V,Missense_L292V,Missense_L322V,Missense_L333V,Missense_L307V exm367905 3 183824407 [A/G] NM_001256613,NM_198313,NM_182589,NM_001256614,NM_198314 HTR3E,HTR3E,HTR3E,HTR3E,HTR3E EXON Missense_A433T,Missense_A418T,Missense_A448T,Missense_A459T,Missense_A433T exm2239012 3 183853307 [G/C] NM_003907 EIF2B5 EXON Missense_A45G exm367923 3 183854503 [T/C] NM_003907 EIF2B5 EXON Missense_A100V exm367926 3 183855425 [A/G] NM_003907 EIF2B5 EXON Missense_R113H exm367928 3 183855449 [A/G] NM_003907 EIF2B5 EXON Missense_R121Q exm367989 3 183860628 [C/G] NM_003907 EIF2B5 EXON Missense_E536D exm367990 3 183860633 [T/C] NM_003907 EIF2B5 EXON Missense_P538L exm367997 3 183861243 [A/G] NM_003907 EIF2B5 EXON Missense_I587V exm2045293 3 183861330 [T/C] NM_003907 EIF2B5 EXON Missense_R616C exm368004 3 183861930 [A/G] NM_003907 EIF2B5 EXON Missense_R638H exm368006 3 183861951 [T/C] NM_003907 EIF2B5 EXON Missense_A645V exm368038 3 183882366 [A/G] NM_004423 DVL3 EXON Missense_R147H exm368051 3 183882713 [T/C] NM_004423 DVL3 EXON Missense_T198I exm368056 3 183882984 [A/G] NM_004423 DVL3 EXON Missense_R228Q exm368061 3 183883253 [A/G] NM_004423 DVL3 EXON Missense_N246S exm368063 3 183883262 [T/C] NM_004423 DVL3 EXON Missense_T249M exm368078 3 183884444 [A/G] NM_004423 DVL3 EXON Missense_C344Y exm2045340 3 183888467 [T/C] NM_004423 DVL3 EXON Missense_P692L exm368147 3 183899559 [T/C] NM_001025205,NM_004068 AP2M1,AP2M1 EXON Synonymous_R259R,Synonymous_R261R exm368151 3 183899832 [T/C] NM_001025205,NM_004068 AP2M1,AP2M1 EXON Synonymous_I318I,Synonymous_I320I exm368158 3 183901278 [T/C] NM_001025205,NM_004068 AP2M1,AP2M1 EXON Synonymous_F392F,Synonymous_F394F exm368159 3 183901281 [A/G] NM_001025205,NM_004068 AP2M1,AP2M1 EXON Synonymous_A393A,Synonymous_A395A exm2045374 3 183904384 [A/G] NM_018358 ABCF3 EXON Missense_S55G exm368190 3 183905528 [T/C] NM_018358 ABCF3 EXON Missense_T142M exm368195 3 183905650 [A/G] NM_018358 ABCF3 EXON Missense_V150I exm368221 3 183906587 [A/C] NM_018358 ABCF3 EXON Missense_Y292S exm368226 3 183906750 [T/C] NM_018358 ABCF3 EXON Synonymous_T317T exm2255872 3 183906750 [T/C] NM_018358 ABCF3 EXON Synonymous_T317T exm368228 3 183906775 [T/C] NM_018358 ABCF3 EXON Missense_R326W exm368234 3 183906916 [T/C] NM_018358 ABCF3 EXON Missense_R340W exm368265 3 183908978 [G/C] NM_018358 ABCF3 EXON Missense_D502H exm368266 3 183908982 [T/C] NM_018358 ABCF3 EXON Missense_P503L exm368269 3 183909003 [A/G] NM_018358 ABCF3 EXON Missense_R510H exm368276 3 183910431 [T/C] NM_018358 ABCF3 EXON Missense_L538F exm368282 3 183910604 [T/C] NM_018358 ABCF3 EXON Missense_I557T exm2239018 3 183910673 [A/G] NM_018358 ABCF3 EXON Missense_R580H exm368293 3 183911221 [A/G] NM_018358 ABCF3 EXON Missense_R651H exm368296 3 183911358 [T/C] NM_018358 ABCF3 EXON Missense_R668C exm368301 3 183911416 [A/G] NM_018358 ABCF3 EXON Missense_R687H exm368303 3 183911445 [A/G] NM_018358 ABCF3 EXON Missense_A697T exm368307 3 183911470 [A/G] NM_018358 ABCF3 EXON Missense_R705H exm2045430 3 183950995 [T/C] NM_138345 VWA5B2 EXON Missense_R114W exm368338 3 183953972 [A/G] NM_138345 VWA5B2 EXON Synonymous_P378P exm368341 3 183954168 [T/C] NM_138345 VWA5B2 EXON Missense_L417P exm368344 3 183954203 [A/G] NM_138345 VWA5B2 EXON Missense_A429T exm368350 3 183955017 [T/G] NM_138345 VWA5B2 EXON Missense_V513L exm368366 3 183956588 [A/G] NM_138345 VWA5B2 EXON Missense_R710H exm368373 3 183957281 [A/G] NM_138345 VWA5B2 EXON Missense_G768S exm368374 3 183957291 [A/G] NM_138345 VWA5B2 EXON Missense_R771Q exm368379 3 183957585 [T/C] NM_138345 VWA5B2 EXON Missense_P834L exm368386 3 183957821 [T/C] NM_138345 VWA5B2 EXON Missense_R913W exm368393 3 183959170 [A/G] NM_138345 VWA5B2 EXON Missense_S1053N exm368418 3 183960671 [T/C] NM_001006941,NR_024534,NM_005787,NR_024533 ALG3,ALG3,ALG3,ALG3 EXON Missense_V314I,Silent,Missense_V362I,Silent exm368429 3 183961588 [A/C] NM_001006941,NR_024534,NM_005787,NR_024533 ALG3,ALG3,ALG3,ALG3 EXON Missense_R260M,Silent,Missense_R308M,Silent exm368431 3 183961666 [A/G] NM_001006941,NR_024534,NM_005787,NR_024533 ALG3,ALG3,ALG3,ALG3 EXON Missense_A234V,Silent,Missense_A282V,Silent exm2239021 3 183962992 [A/G] NM_001006941,NR_024534,NM_005787,NR_024533 ALG3,ALG3,ALG3,ALG3 EXON Missense_F152S,Silent,Missense_F200S,Silent exm368449 3 183963134 [T/C] NM_001006941,NR_024534,NM_005787,NR_024533 ALG3,ALG3,ALG3,ALG3 EXON Missense_V105I,Silent,Missense_V153I,Silent exm368455 3 183963381 [T/C] NM_001006941,NR_024534,NM_005787,NR_024533 ALG3,ALG3,ALG3,ALG3 EXON Missense_I59V,Silent,Missense_I107V,Silent exm368458 3 183963549 [T/C] NM_001006941,NR_024534,NM_005787,NR_024533 ALG3,ALG3,ALG3,ALG3 EXON Missense_N35S,Silent,Missense_N83S,Silent exm368486 3 183967677 [A/T] NM_014693,NM_032331 ECE2,ECE2 EXON Synonymous_L65L,Synonymous_L65L exm368489 3 183975266 [A/G] NM_014693,NM_032331 ECE2,ECE2 EXON Missense_G68R,Missense_G68R exm368490 3 183975296 [T/C] NM_014693,NM_032331 ECE2,ECE2 EXON Missense_L78F,Missense_L78F exm368494 3 183975365 [T/C] NM_014693,NM_032331 ECE2,ECE2 EXON Missense_H101Y,Missense_H101Y exm368501 3 183975408 [A/G] NM_014693,NM_032331 ECE2,ECE2 EXON Missense_R115Q,Missense_R115Q exm368505 3 183975444 [T/C] NM_014693,NM_032331 ECE2,ECE2 EXON Missense_V127A,Missense_V127A exm368506 3 183975459 [T/C] NM_014693,NM_032331 ECE2,ECE2 EXON Missense_T132M,Missense_T132M exm368514 3 183976103 [T/C] NM_014693,NM_032331 ECE2,ECE2 EXON Silent,Missense_R170W exm368525 3 183976241 [A/G] NM_014693,NM_032331 ECE2,ECE2 EXON Silent,Missense_K216E exm368527 3 183976337 [T/G] NM_014693,NM_032331 ECE2,ECE2 EXON Silent,Missense_D248Y exm368568 3 183995189 [A/G] NM_014693,NM_001100120,NM_001100121,NM_001037324 ECE2,ECE2,ECE2,ECE2 EXON Missense_R256H,Missense_R184H,Missense_R138H,Missense_R109H exm2269583 3 183995341 [T/C] NM_014693,NM_001100120,NM_001100121,NM_001037324 ECE2,ECE2,ECE2,ECE2 Silent,Silent,Silent,Silent exm368574 3 183995839 [T/C] NM_014693,NM_001100120,NM_001100121,NM_001037324 ECE2,ECE2,ECE2,ECE2 Silent,Silent,Silent,Silent exm2045481 3 183996338 [A/G] NM_014693,NM_001100120,NM_001100121,NM_001037324 ECE2,ECE2,ECE2,ECE2 EXON Missense_N388S,Missense_N316S,Missense_N270S,Missense_N241S exm368611 3 184005719 [A/G] NM_014693,NM_001100120,NM_001100121,NM_001037324 ECE2,ECE2,ECE2,ECE2 EXON Missense_R571Q,Missense_R499Q,Missense_R453Q,Missense_R424Q exm368620 3 184007447 [A/G] NM_014693,NM_001100120,NM_001100121,NM_001037324 ECE2,ECE2,ECE2,ECE2 EXON Missense_M616V,Missense_M544V,Missense_M498V,Missense_M469V exm368621 3 184007478 [G/C] NM_014693,NM_001100120,NM_001100121,NM_001037324 ECE2,ECE2,ECE2,ECE2 EXON Missense_P626R,Missense_P554R,Missense_P508R,Missense_P479R exm368626 3 184008046 [A/G] NM_014693,NM_001100120,NM_001100121,NM_001037324 ECE2,ECE2,ECE2,ECE2 EXON Missense_E637K,Missense_E565K,Missense_E519K,Missense_E490K exm368630 3 184008139 [T/C] NM_014693,NM_001100120,NM_001100121,NM_001037324 ECE2,ECE2,ECE2,ECE2 EXON Nonsense_R668X,Nonsense_R596X,Nonsense_R550X,Nonsense_R521X exm368632 3 184008443 [A/G] NM_014693,NM_001100120,NM_001100121,NM_001037324 ECE2,ECE2,ECE2,ECE2 EXON Missense_R703H,Missense_R631H,Missense_R585H,Missense_R556H exm368641 3 184008833 [A/G] NM_014693,NM_001100120,NM_001100121,NM_001037324 ECE2,ECE2,ECE2,ECE2 EXON Missense_E732K,Missense_E660K,Missense_E614K,Missense_E585K exm368647 3 184008903 [T/C] NM_014693,NM_001100120,NM_001100121,NM_001037324 ECE2,ECE2,ECE2,ECE2 EXON Missense_T755M,Missense_T683M,Missense_T637M,Missense_T608M exm368650 3 184008959 [A/G] NM_014693,NM_001100120,NM_001100121,NM_001037324 ECE2,ECE2,ECE2,ECE2 EXON Missense_G774S,Missense_G702S,Missense_G656S,Missense_G627S exm2045514 3 184009964 [T/C] NM_014693,NM_001100120,NM_001100121,NM_001037324 ECE2,ECE2,ECE2,ECE2 EXON Missense_R864W,Missense_R792W,Missense_R746W,Missense_R717W exm368674 3 184009973 [A/G] NM_014693,NM_001100120,NM_001100121,NM_001037324 ECE2,ECE2,ECE2,ECE2 EXON Missense_G867S,Missense_G795S,Missense_G749S,Missense_G720S exm368703 3 184018215 [A/G] NM_002808 PSMD2 EXON Missense_A114T exm368705 3 184019325 [T/C] NM_002808 PSMD2 EXON Missense_R120C exm368706 3 184019326 [A/G] NM_002808 PSMD2 EXON Missense_R120H exm2045520 3 184019358 [A/G] NM_002808 PSMD2 EXON Missense_M131V exm368711 3 184019670 [A/G] NM_002808 PSMD2 EXON Missense_E172G exm2045524 3 184019834 [A/G] NM_002808 PSMD2 EXON Missense_A227T exm368739 3 184020542 [T/G] NM_002808 PSMD2 EXON Missense_E313D exm368747 3 184021253 [T/C] NM_002808 PSMD2 EXON Synonymous_H405H exm368750 3 184021448 [T/G] NM_002808 PSMD2 EXON Missense_A412S exm368822 3 184035172 [T/C] NM_198242,NM_001194946,NM_198244,NM_001194947,NM_198241,NM_182917 EIF4G1,EIF4G1,EIF4G1,EIF4G1,EIF4G1,EIF4G1 EXON Silent,Missense_P78S,Silent,Missense_P78S,Missense_P71S,Missense_P71S exm368831 3 184037533 [A/G] NM_198242,NM_001194946,NM_198244,NM_001194947,NM_198241,NM_182917 EIF4G1,EIF4G1,EIF4G1,EIF4G1,EIF4G1,EIF4G1 EXON Silent,Missense_T168A,Missense_T74A,Missense_T168A,Missense_T161A,Missense_T161A exm368833 3 184038482 [A/G] NM_198242,NM_001194946,NM_198244,NM_001194947,NM_198241,NM_182917,NM_004953 EIF4G1,EIF4G1,EIF4G1,EIF4G1,EIF4G1,EIF4G1,EIF4G1 EXON Missense_R37H,Missense_R208H,Missense_R114H,Missense_R208H,Missense_R201H,Missense_R201H,Missense_R5H exm368853 3 184039304 [A/G] NM_198242,NM_001194946,NM_198244,NM_001194947,NM_198241,NM_182917,NM_004953 EIF4G1,EIF4G1,EIF4G1,EIF4G1,EIF4G1,EIF4G1,EIF4G1 EXON Missense_Y147C,Missense_Y318C,Missense_Y224C,Missense_Y318C,Missense_Y311C,Missense_Y311C,Missense_Y115C exm368856 3 184039373 [A/C] NM_198242,NM_001194946,NM_198244,NM_001194947,NM_198241,NM_182917,NM_004953 EIF4G1,EIF4G1,EIF4G1,EIF4G1,EIF4G1,EIF4G1,EIF4G1 EXON Missense_P170Q,Missense_P341Q,Missense_P247Q,Missense_P341Q,Missense_P334Q,Missense_P334Q,Missense_P138Q exm368860 3 184039426 [T/G] NM_198242,NM_001194946,NM_198244,NM_001194947,NM_198241,NM_182917,NM_004953 EIF4G1,EIF4G1,EIF4G1,EIF4G1,EIF4G1,EIF4G1,EIF4G1 EXON Missense_A188S,Missense_A359S,Missense_A265S,Missense_A359S,Missense_A352S,Missense_A352S,Missense_A156S exm368871 3 184039666 [A/G] NM_198242,NM_001194946,NM_198244,NM_001194947,NM_198241,NM_182917,NM_004953 EIF4G1,EIF4G1,EIF4G1,EIF4G1,EIF4G1,EIF4G1,EIF4G1 EXON Missense_M268V,Missense_M439V,Missense_M345V,Missense_M439V,Missense_M432V,Missense_M432V,Missense_M236V exm368874 3 184039703 [T/C] NM_198242,NM_001194946,NM_198244,NM_001194947,NM_198241,NM_182917,NM_004953 EIF4G1,EIF4G1,EIF4G1,EIF4G1,EIF4G1,EIF4G1,EIF4G1 EXON Missense_T280M,Missense_T451M,Missense_T357M,Missense_T451M,Missense_T444M,Missense_T444M,Missense_T248M exm368880 3 184039775 [A/C] NM_198242,NM_001194946,NM_198244,NM_001194947,NM_198241,NM_182917,NM_004953 EIF4G1,EIF4G1,EIF4G1,EIF4G1,EIF4G1,EIF4G1,EIF4G1 EXON Missense_A304E,Missense_A475E,Missense_A381E,Missense_A475E,Missense_A468E,Missense_A468E,Missense_A272E exm368882 3 184039828 [T/C] NM_198242,NM_001194946,NM_198244,NM_001194947,NM_198241,NM_182917,NM_004953 EIF4G1,EIF4G1,EIF4G1,EIF4G1,EIF4G1,EIF4G1,EIF4G1 EXON Missense_P322S,Missense_P493S,Missense_P399S,Missense_P493S,Missense_P486S,Missense_P486S,Missense_P290S exm368885 3 184039843 [T/A] NM_198242,NM_001194946,NM_198244,NM_001194947,NM_198241,NM_182917,NM_004953 EIF4G1,EIF4G1,EIF4G1,EIF4G1,EIF4G1,EIF4G1,EIF4G1 EXON Missense_I327F,Missense_I498F,Missense_I404F,Missense_I498F,Missense_I491F,Missense_I491F,Missense_I295F exm368896 3 184040371 [C/G] NM_198242,NM_001194946,NM_198244,NM_001194947,NM_198241,NM_182917,NM_004953 EIF4G1,EIF4G1,EIF4G1,EIF4G1,EIF4G1,EIF4G1,EIF4G1 EXON Missense_A386P,Missense_A557P,Missense_A463P,Missense_A557P,Missense_A550P,Missense_A550P,Missense_A354P exm368898 3 184040419 [T/C] NM_198242,NM_001194946,NM_198244,NM_001194947,NM_198241,NM_182917,NM_004953 EIF4G1,EIF4G1,EIF4G1,EIF4G1,EIF4G1,EIF4G1,EIF4G1 EXON Missense_R402C,Missense_R573C,Missense_R479C,Missense_R573C,Missense_R566C,Missense_R566C,Missense_R370C exm368903 3 184040623 [G/C] NM_198242,NM_001194946,NM_198244,NM_001194947,NM_198241,NM_182917,NM_004953 EIF4G1,EIF4G1,EIF4G1,EIF4G1,EIF4G1,EIF4G1,EIF4G1 EXON Missense_L440V,Missense_L611V,Missense_L517V,Missense_L611V,Missense_L604V,Missense_L604V,Missense_L408V exm368914 3 184041256 [C/G] NM_198242,NM_001194946,NM_198244,NM_001194947,NM_198241,NM_182917,NM_004953 EIF4G1,EIF4G1,EIF4G1,EIF4G1,EIF4G1,EIF4G1,EIF4G1 EXON Missense_A553P,Missense_A724P,Missense_A630P,Missense_A724P,Missense_A717P,Missense_A718P,Missense_A522P exm368915 3 184041329 [T/C] NM_198242,NM_001194946,NM_198244,NM_001194947,NM_198241,NM_182917,NM_004953 EIF4G1,EIF4G1,EIF4G1,EIF4G1,EIF4G1,EIF4G1,EIF4G1 EXON Missense_T577M,Missense_T748M,Missense_T654M,Missense_T748M,Missense_T741M,Missense_T742M,Missense_T546M exm368922 3 184041709 [A/G] NM_198242,NM_001194946,NM_198244,NM_001194947,NM_198241,NM_182917,NM_004953 EIF4G1,EIF4G1,EIF4G1,EIF4G1,EIF4G1,EIF4G1,EIF4G1 EXON Missense_I642V,Missense_I813V,Missense_I719V,Missense_I813V,Missense_I806V,Missense_I807V,Missense_I611V exm368970 3 184045092 [T/C] NM_198242,NM_001194946,NM_198244,NM_001194947,NM_198241,NM_182917,NM_004953 EIF4G1,EIF4G1,EIF4G1,EIF4G1,EIF4G1,EIF4G1,EIF4G1 EXON Missense_R1009W,Missense_R1180W,Missense_R1086W,Missense_R1180W,Missense_R1173W,Missense_R1174W,Missense_R978W exm368975 3 184045189 [A/G] NM_198242,NM_001194946,NM_198244,NM_001194947,NM_198241,NM_182917,NM_004953 EIF4G1,EIF4G1,EIF4G1,EIF4G1,EIF4G1,EIF4G1,EIF4G1 EXON Missense_R1041H,Missense_R1212H,Missense_R1118H,Missense_R1212H,Missense_R1205H,Missense_R1206H,Missense_R1010H exm368978 3 184045222 [A/G] NM_198242,NM_001194946,NM_198244,NM_001194947,NM_198241,NM_182917,NM_004953 EIF4G1,EIF4G1,EIF4G1,EIF4G1,EIF4G1,EIF4G1,EIF4G1 EXON Missense_R1052H,Missense_R1223H,Missense_R1129H,Missense_R1223H,Missense_R1216H,Missense_R1217H,Missense_R1021H exm368982 3 184045397 [G/C] NM_198242,NM_001194946,NM_198244,NM_001194947,NM_198241,NM_182917,NM_004953 EIF4G1,EIF4G1,EIF4G1,EIF4G1,EIF4G1,EIF4G1,EIF4G1 EXON Missense_P1065A,Missense_P1236A,Missense_P1142A,Missense_P1236A,Missense_P1229A,Missense_P1230A,Missense_P1034A exm368984 3 184045410 [T/C] NM_198242,NM_001194946,NM_198244,NM_001194947,NM_198241,NM_182917,NM_004953 EIF4G1,EIF4G1,EIF4G1,EIF4G1,EIF4G1,EIF4G1,EIF4G1 EXON Missense_L1069P,Missense_L1240P,Missense_L1146P,Missense_L1240P,Missense_L1233P,Missense_L1234P,Missense_L1038P exm368985 3 184045416 [T/C] NM_198242,NM_001194946,NM_198244,NM_001194947,NM_198241,NM_182917,NM_004953 EIF4G1,EIF4G1,EIF4G1,EIF4G1,EIF4G1,EIF4G1,EIF4G1 EXON Missense_A1071V,Missense_A1242V,Missense_A1148V,Missense_A1242V,Missense_A1235V,Missense_A1236V,Missense_A1040V exm368987 3 184045482 [A/G] NM_198242,NM_001194946,NM_198244,NM_001194947,NM_198241,NM_182917,NM_004953 EIF4G1,EIF4G1,EIF4G1,EIF4G1,EIF4G1,EIF4G1,EIF4G1 EXON Missense_N1093S,Missense_N1264S,Missense_N1170S,Missense_N1264S,Missense_N1257S,Missense_N1258S,Missense_N1062S exm368991 3 184045771 [A/G] NM_198242,NM_001194946,NM_198244,NM_001194947,NM_198241,NM_182917,NM_004953 EIF4G1,EIF4G1,EIF4G1,EIF4G1,EIF4G1,EIF4G1,EIF4G1 EXON Missense_T1148A,Missense_T1319A,Missense_T1225A,Missense_T1319A,Missense_T1312A,Missense_T1313A,Missense_T1117A exm368996 3 184046450 [A/G] NM_198242,NM_001194946,NM_198244,NM_001194947,NM_198241,NM_182917,NM_004953 EIF4G1,EIF4G1,EIF4G1,EIF4G1,EIF4G1,EIF4G1,EIF4G1 EXON Missense_M1165V,Missense_M1336V,Missense_M1242V,Missense_M1336V,Missense_M1329V,Missense_M1330V,Missense_M1134V exm368999 3 184046529 [T/C] NM_198242,NM_001194946,NM_198244,NM_001194947,NM_198241,NM_182917,NM_004953 EIF4G1,EIF4G1,EIF4G1,EIF4G1,EIF4G1,EIF4G1,EIF4G1 EXON Missense_M1191T,Missense_M1362T,Missense_M1268T,Missense_M1362T,Missense_M1355T,Missense_M1356T,Missense_M1160T exm369003 3 184046720 [T/C] NM_198242,NM_001194946,NM_198244,NM_001194947,NM_198241,NM_182917,NM_004953 EIF4G1,EIF4G1,EIF4G1,EIF4G1,EIF4G1,EIF4G1,EIF4G1 EXON Missense_P1204L,Missense_P1375L,Missense_P1281L,Missense_P1375L,Missense_P1368L,Missense_P1369L,Missense_P1173L exm369008 3 184049090 [A/G] NM_198242,NM_001194946,NM_198244,NM_001194947,NM_198241,NM_182917,NM_004953 EIF4G1,EIF4G1,EIF4G1,EIF4G1,EIF4G1,EIF4G1,EIF4G1 EXON Missense_G1236R,Missense_G1407R,Missense_G1313R,Missense_G1407R,Missense_G1400R,Missense_G1401R,Missense_G1205R exm369021 3 184049550 [T/C] NM_198242,NM_001194946,NM_198244,NM_001194947,NM_198241,NM_182917,NM_004953 EIF4G1,EIF4G1,EIF4G1,EIF4G1,EIF4G1,EIF4G1,EIF4G1 EXON Missense_T1313M,Missense_T1484M,Missense_T1390M,Missense_T1484M,Missense_T1477M,Missense_T1478M,Missense_T1282M exm369024 3 184049739 [A/T] NM_198242,NM_001194946,NM_198244,NM_001194947,NM_198241,NM_182917,NM_004953 EIF4G1,EIF4G1,EIF4G1,EIF4G1,EIF4G1,EIF4G1,EIF4G1 EXON Missense_T1331S,Missense_T1502S,Missense_T1408S,Missense_T1502S,Missense_T1495S,Missense_T1496S,Missense_T1300S exm369043 3 184056275 [T/G] NM_001171093,NM_144635 FAM131A,FAM131A EXON Silent,Missense_R63S exm369045 3 184059582 [T/C] NM_001171093,NM_144635 FAM131A,FAM131A EXON Missense_A16V,Missense_A101V exm369084 3 184062546 [T/G] NM_001171093,NM_144635 FAM131A,FAM131A EXON Missense_G212C,Missense_G297C exm369085 3 184062580 [T/C] NM_001171093,NM_144635 FAM131A,FAM131A EXON Missense_S223L,Missense_S308L exm369102 3 184064408 [T/C] NM_001171089,NM_001171088,NM_004366,NM_001171087 CLCN2,CLCN2,CLCN2,CLCN2 EXON Missense_D866N,Missense_D851N,Missense_D895N,Missense_D878N exm2239037 3 184070545 [A/G] NM_001171089,NM_001171088,NM_004366,NM_001171087 CLCN2,CLCN2,CLCN2,CLCN2 EXON Missense_P733S,Missense_P689S,Missense_P733S,Missense_P716S exm369143 3 184070569 [A/G] NM_001171089,NM_001171088,NM_004366,NM_001171087 CLCN2,CLCN2,CLCN2,CLCN2 EXON Missense_R725W,Missense_R681W,Missense_R725W,Missense_R708W exm369146 3 184070588 [G/C] NM_001171089,NM_001171088,NM_004366,NM_001171087 CLCN2,CLCN2,CLCN2,CLCN2 EXON Missense_E718D,Missense_E674D,Missense_E718D,Missense_E701D exm369153 3 184070901 [T/C] NM_001171089,NM_001171088,NM_004366,NM_001171087 CLCN2,CLCN2,CLCN2,CLCN2 EXON Missense_R688Q,Missense_R644Q,Missense_R688Q,Missense_R671Q exm369168 3 184071129 [T/C] NM_001171089,NM_001171088,NM_004366,NM_001171087 CLCN2,CLCN2,CLCN2,CLCN2 EXON Missense_R646Q,Missense_R602Q,Missense_R646Q,Missense_R629Q exm369170 3 184071136 [A/G] NM_001171089,NM_001171088,NM_004366,NM_001171087 CLCN2,CLCN2,CLCN2,CLCN2 EXON Missense_R644C,Missense_R600C,Missense_R644C,Missense_R627C exm369175 3 184071476 [T/C] NM_001171089,NM_001171088,NM_004366,NM_001171087 CLCN2,CLCN2,CLCN2,CLCN2 EXON Missense_R610Q,Missense_R566Q,Missense_R610Q,Missense_R593Q exm369177 3 184071510 [T/C] NM_001171089,NM_001171088,NM_004366,NM_001171087 CLCN2,CLCN2,CLCN2,CLCN2 EXON Missense_D599N,Missense_D555N,Missense_D599N,Missense_D582N exm369178 3 184071548 [T/C] NM_001171089,NM_001171088,NM_004366,NM_001171087 CLCN2,CLCN2,CLCN2,CLCN2 EXON Missense_R586Q,Missense_R542Q,Missense_R586Q,Missense_R569Q exm369180 3 184071575 [T/C] NM_001171089,NM_001171088,NM_004366,NM_001171087 CLCN2,CLCN2,CLCN2,CLCN2 EXON Missense_R577Q,Missense_R533Q,Missense_R577Q,Missense_R560Q exm369184 3 184071901 [T/C] NM_001171089,NM_001171088,NM_004366,NM_001171087 CLCN2,CLCN2,CLCN2,CLCN2 EXON Nonsense_W570X,Nonsense_W526X,Nonsense_W570X,Nonsense_W553X exm369185 3 184071938 [A/G] NM_001171089,NM_001171088,NM_004366,NM_001171087 CLCN2,CLCN2,CLCN2,CLCN2 EXON Nonsense_R558X,Nonsense_R514X,Nonsense_R558X,Nonsense_R541X exm369186 3 184071977 [T/C] NM_001171089,NM_001171088,NM_004366,NM_001171087 CLCN2,CLCN2,CLCN2,CLCN2 EXON Missense_A545T,Missense_A501T,Missense_A545T,Missense_A528T exm369205 3 184073170 [A/G] NM_001171089,NM_001171088,NM_004366,NM_001171087 CLCN2,CLCN2,CLCN2,CLCN2 EXON Missense_L440F,Missense_L396F,Missense_L440F,Missense_L440F exm369209 3 184073238 [A/G] NM_001171089,NM_001171088,NM_004366,NM_001171087 CLCN2,CLCN2,CLCN2,CLCN2 EXON Missense_P417L,Missense_P373L,Missense_P417L,Missense_P417L exm369226 3 184074877 [A/G] NM_001171089,NM_001171088,NM_004366,NM_001171087 CLCN2,CLCN2,CLCN2,CLCN2 EXON Missense_A330V,Missense_A286V,Missense_A330V,Missense_A330V exm369227 3 184074973 [A/G] NM_001171089,NM_001171088,NM_004366,NM_001171087 CLCN2,CLCN2,CLCN2,CLCN2 EXON Missense_I327T,Missense_I283T,Missense_I327T,Missense_I327T exm369240 3 184075461 [A/G] NM_001171089,NM_001171088,NM_004366,NM_001171087 CLCN2,CLCN2,CLCN2,CLCN2 EXON Missense_L240P,Missense_L196P,Missense_L240P,Missense_L240P exm369241 3 184075476 [T/C] NM_001171089,NM_001171088,NM_004366,NM_001171087 CLCN2,CLCN2,CLCN2,CLCN2 EXON Missense_R235Q,Missense_R191Q,Missense_R235Q,Missense_R235Q exm369244 3 184075626 [T/C] NM_001171089,NM_001171088,NM_004366,NM_001171087 CLCN2,CLCN2,CLCN2,CLCN2 EXON Missense_A212T,Missense_A168T,Missense_A212T,Missense_A212T exm369254 3 184076081 [A/G] NM_001171089,NM_001171088,NM_004366,NM_001171087 CLCN2,CLCN2,CLCN2,CLCN2 EXON Missense_R124W,Missense_R80W,Missense_R124W,Missense_R124W exm369260 3 184076765 [T/C] NM_001171089,NM_001171088,NM_004366,NM_001171087 CLCN2,CLCN2,CLCN2,CLCN2 EXON Missense_R73H,Missense_R73H,Missense_R73H,Missense_R73H exm369263 3 184076780 [T/C] NM_001171089,NM_001171088,NM_004366,NM_001171087 CLCN2,CLCN2,CLCN2,CLCN2 EXON Missense_R68H,Missense_R68H,Missense_R68H,Missense_R68H exm369266 3 184076840 [G/C] NM_001171089,NM_001171088,NM_004366,NM_001171087 CLCN2,CLCN2,CLCN2,CLCN2 EXON Missense_P48R,Missense_P48R,Missense_P48R,Missense_P48R exm369267 3 184076909 [T/C] NM_001171089,NM_001171088,NM_004366,NM_001171087 CLCN2,CLCN2,CLCN2,CLCN2 EXON Missense_R25Q,Missense_R25Q,Missense_R25Q,Missense_R25Q exm369300 3 184090333 [T/C] NM_000460,NM_001177597,NM_001177598 THPO,THPO,THPO EXON Missense_T344A,Missense_T340A,Silent exm369308 3 184090449 [A/G] NM_000460,NM_001177597,NM_001177598 THPO,THPO,THPO EXON Missense_T305M,Missense_T301M,Synonymous_Y299Y exm2045747 3 184090511 [T/C] NM_000460,NM_001177597,NM_001177598 THPO,THPO,THPO EXON Synonymous_L284L,Synonymous_L280L,Missense_A279T exm369314 3 184090590 [T/C] NM_000460,NM_001177597,NM_001177598 THPO,THPO,THPO EXON Missense_R258H,Missense_R254H,Synonymous_S252S exm2045749 3 184090610 [G/C] NM_000460,NM_001177597,NM_001177598 THPO,THPO,THPO EXON Missense_H251Q,Missense_H247Q,Missense_R246G exm369316 3 184090659 [T/C] NM_000460,NM_001177597,NM_001177598 THPO,THPO,THPO EXON Missense_Q235R,Missense_Q231R,Synonymous_P229P exm369318 3 184090724 [A/T] NM_000460,NM_001177597,NM_001177598 THPO,THPO,THPO EXON Synonymous_T213T,Synonymous_T209T,Missense_Y208N exm369320 3 184090784 [A/G] NM_000460,NM_001177597,NM_001177598 THPO,THPO,THPO EXON Synonymous_N193N,Synonymous_N189N,Nonsense_R188X exm369321 3 184090813 [T/C] NM_000460,NM_001177597,NM_001177598 THPO,THPO,THPO EXON Missense_S184G,Missense_S180G,Missense_Q178R exm369329 3 184091243 [T/C] NM_000460,NM_001177597,NM_001177598 THPO,THPO,THPO EXON Missense_R119H,Missense_R119H,Missense_R119H exm369330 3 184091252 [A/C] NM_000460,NM_001177597,NM_001177598 THPO,THPO,THPO EXON Missense_G116V,Missense_G116V,Missense_G116V exm369334 3 184093358 [A/G] NM_000460,NM_001177597,NM_001177598 THPO,THPO,THPO EXON Missense_T58I,Missense_T58I,Missense_T58I exm369336 3 184093693 [T/C] NM_000460,NM_001177597,NM_001177598 THPO,THPO,THPO EXON Missense_V42I,Missense_V42I,Missense_V42I exm369354 3 184099050 [T/C] NM_003741 CHRD EXON Missense_P94S exm369355 3 184099081 [T/C] NM_003741 CHRD EXON Missense_P104L exm369361 3 184099364 [C/G] NM_003741 CHRD EXON Missense_R155G exm369372 3 184100205 [T/G] NM_003741 CHRD EXON Missense_R243L exm369392 3 184100852 [G/C] NM_003741 CHRD EXON Missense_D372H exm369394 3 184100897 [A/G] NM_003741 CHRD EXON Missense_G387S exm369406 3 184101360 [C/G] NM_003741 CHRD EXON Missense_T457S exm369410 3 184101416 [T/C] NM_003741 CHRD EXON Missense_P476S exm369413 3 184101429 [T/C] NM_003741 CHRD EXON Missense_T480M exm369423 3 184102470 [T/C] NM_003741 CHRD EXON Missense_A529V exm369426 3 184102806 [T/C] NM_003741 CHRD EXON Missense_T533M exm2045807 3 184102841 [T/C] NM_003741 CHRD EXON Missense_P545S exm369435 3 184102983 [T/C] NM_003741 CHRD EXON Missense_T592M exm369436 3 184102995 [A/G] NM_003741 CHRD EXON Missense_R596Q exm369442 3 184103903 [A/C] NM_003741 CHRD EXON Missense_M630L exm369472 3 184104726 [A/G] NM_003741 CHRD EXON Missense_E764K exm369477 3 184104896 [T/G] NM_003741 CHRD Silent exm369479 3 184105192 [A/G] NM_003741 CHRD EXON Missense_R793Q exm369484 3 184105726 [T/C] NM_003741 CHRD EXON Missense_T820I exm369493 3 184106780 [T/C] NM_003741 CHRD EXON Missense_R937W exm2045834 3 184106783 [T/C] NM_003741 CHRD EXON Missense_P938S exm-rs3930234 3 184216130 [T/C] exm369509 3 184290319 [T/G] NM_004443 EPHB3 EXON Missense_A71S exm369524 3 184290611 [A/G] NM_004443 EPHB3 EXON Missense_R168Q exm2045854 3 184293704 [A/G] NM_004443 EPHB3 EXON Missense_A315T exm369549 3 184293760 [G/C] NM_004443 EPHB3 EXON Missense_D333E exm369551 3 184294631 [T/C] NM_004443 EPHB3 EXON Synonymous_T338T exm369552 3 184294632 [A/G] NM_004443 EPHB3 EXON Missense_V339M exm369561 3 184294819 [A/G] NM_004443 EPHB3 EXON Missense_R401Q exm369577 3 184295518 [T/C] NM_004443 EPHB3 EXON Missense_R518C exm369583 3 184295724 [A/G] NM_004443 EPHB3 EXON Missense_I560V exm369586 3 184295757 [A/G] NM_004443 EPHB3 EXON Missense_V571M exm369587 3 184295784 [A/G] NM_004443 EPHB3 EXON Missense_V580I exm369597 3 184297301 [T/C] NM_004443 EPHB3 EXON Missense_T613I exm369602 3 184297351 [A/G] NM_004443 EPHB3 EXON Missense_V630M exm369641 3 184298952 [C/G] NM_004443 EPHB3 EXON Missense_G911R exm369644 3 184299085 [A/C] NM_004443 EPHB3 EXON Missense_T926N exm-rs6443987 3 184406997 [T/G] exm2239044 3 184428747 [A/G] NM_022149 MAGEF1 EXON Missense_A288V exm369678 3 184428856 [A/T] NM_022149 MAGEF1 EXON Missense_M252L exm369679 3 184428903 [T/G] NM_022149 MAGEF1 EXON Missense_E236A exm369681 3 184428912 [T/C] NM_022149 MAGEF1 EXON Missense_N233S exm369684 3 184429072 [T/C] NM_022149 MAGEF1 EXON Missense_R180G exm369686 3 184429114 [T/C] NM_022149 MAGEF1 EXON Missense_R166G exm369692 3 184429216 [G/C] NM_022149 MAGEF1 EXON Missense_E132Q exm369695 3 184429332 [T/C] NM_022149 MAGEF1 EXON Missense_K93R exm369699 3 184429411 [A/C] NM_022149 MAGEF1 EXON Missense_L67V exm2261451 3 184452676 [A/G] exm369714 3 184542480 [A/T] NM_015303,NM_001009921 VPS8,VPS8 EXON Missense_E20D,Missense_E20D exm369717 3 184550501 [A/G] NM_015303,NM_001009921 VPS8,VPS8 EXON Missense_I83V,Missense_I83V exm369723 3 184552465 [T/C] NM_015303,NM_001009921 VPS8,VPS8 EXON Missense_L128F,Missense_L128F exm369736 3 184566906 [A/G] NM_015303,NM_001009921 VPS8,VPS8 EXON Missense_G195S,Missense_G197S exm369745 3 184571757 [A/G] NM_015303,NM_001009921 VPS8,VPS8 EXON Missense_I310V,Missense_I312V exm369748 3 184571960 [A/G] NM_015303,NM_001009921 VPS8,VPS8 EXON Missense_R343Q,Missense_R345Q exm369754 3 184577795 [T/C] NM_015303,NM_001009921 VPS8,VPS8 EXON Missense_A387V,Missense_A389V exm369773 3 184603910 [A/G] NM_015303,NM_001009921 VPS8,VPS8 EXON Missense_V581I,Missense_V583I exm2239046 3 184616392 [A/G] NM_015303,NM_001009921 VPS8,VPS8 EXON Missense_M680V,Missense_M682V exm369793 3 184633203 [A/C] NM_015303,NM_001009921 VPS8,VPS8 EXON Missense_P773T,Missense_P775T exm369803 3 184642767 [T/C] NM_015303,NM_001009921 VPS8,VPS8 EXON Nonsense_Q856X,Nonsense_Q858X exm369807 3 184646299 [T/C] NM_015303,NM_001009921 VPS8,VPS8 EXON Missense_R896W,Missense_R898W exm369814 3 184648315 [A/G] NM_015303,NM_001009921 VPS8,VPS8 EXON Missense_E951K,Missense_E953K exm369818 3 184654052 [G/C] NM_015303,NM_001009921 VPS8,VPS8 EXON Missense_P971A,Missense_P973A exm2045965 3 184654077 [T/C] NM_015303,NM_001009921 VPS8,VPS8 EXON Missense_A979V,Missense_A981V exm369820 3 184654109 [A/C] NM_015303,NM_001009921 VPS8,VPS8 EXON Missense_I990L,Missense_I992L exm369831 3 184675179 [A/G] NM_015303,NM_001009921 VPS8,VPS8 EXON Missense_N1016S,Missense_N1018S exm369834 3 184675247 [T/C] NM_015303,NM_001009921 VPS8,VPS8 EXON Missense_P1039S,Missense_P1041S exm369848 3 184700426 [T/C] NM_015303,NM_001009921 VPS8,VPS8 EXON Missense_H1163Y,Missense_H1165Y exm369853 3 184714255 [T/C] NM_015303,NM_001009921 VPS8,VPS8 EXON Missense_R1266C,Missense_R1268C exm369856 3 184717530 [A/G] NM_015303,NM_001009921 VPS8,VPS8 EXON Missense_T1293A,Missense_T1295A exm369858 3 184717603 [A/G] NM_015303,NM_001009921 VPS8,VPS8 EXON Missense_S1317N,Missense_S1319N exm369861 3 184742136 [C/G] NM_015303,NM_001009921 VPS8,VPS8 EXON Missense_P1337A,Missense_P1339A exm369862 3 184742161 [A/G] NM_015303,NM_001009921 VPS8,VPS8 EXON Missense_D1345G,Missense_D1347G exm369863 3 184742179 [T/C] NM_015303,NM_001009921 VPS8,VPS8 Silent,Silent exm369865 3 184766301 [T/C] NM_015303,NM_001009921 VPS8,VPS8 EXON Missense_I1362T,Missense_I1364T exm369871 3 184769695 [A/G] NM_015303,NM_001009921 VPS8,VPS8 EXON Missense_R1388H,Missense_R1390H exm369873 3 184769715 [G/C] NM_015303,NM_001009921 VPS8,VPS8 EXON Missense_P1395A,Missense_P1397A exm369881 3 184800841 [A/G] NM_001025266 C3orf70 EXON Missense_S236L exm369891 3 184801028 [T/C] NM_001025266 C3orf70 EXON Missense_N174D exm369892 3 184801033 [T/C] NM_001025266 C3orf70 EXON Missense_E172G exm369897 3 184801094 [A/G] NM_001025266 C3orf70 EXON Missense_P152S exm369898 3 184801099 [A/G] NM_001025266 C3orf70 EXON Missense_P150L exm369899 3 184801115 [A/G] NM_001025266 C3orf70 EXON Missense_Y145H exm2269585 3 184816323 [T/C] NM_001025266 C3orf70 Silent exm-rs7647854 3 184876783 [A/G] exm369912 3 184910025 [T/C] NM_001966,NM_001166415 EHHADH,EHHADH EXON Missense_S721G,Missense_S625G exm369913 3 184910033 [A/G] NM_001966,NM_001166415 EHHADH,EHHADH EXON Missense_S718F,Missense_S622F exm369914 3 184910042 [A/G] NM_001966,NM_001166415 EHHADH,EHHADH EXON Missense_L715S,Missense_L619S exm369916 3 184910069 [T/A] NM_001966,NM_001166415 EHHADH,EHHADH EXON Missense_N706I,Missense_N610I exm369918 3 184910078 [A/G] NM_001966,NM_001166415 EHHADH,EHHADH EXON Missense_S703F,Missense_S607F exm369921 3 184910120 [A/G] NM_001966,NM_001166415 EHHADH,EHHADH EXON Missense_I689T,Missense_I593T exm369922 3 184910133 [T/G] NM_001966,NM_001166415 EHHADH,EHHADH EXON Missense_Q685K,Missense_Q589K exm369923 3 184910136 [T/C] NM_001966,NM_001166415 EHHADH,EHHADH EXON Missense_R684G,Missense_R588G exm369927 3 184910248 [A/C] NM_001966,NM_001166415 EHHADH,EHHADH EXON Missense_I646M,Missense_I550M exm369930 3 184910322 [A/G] NM_001966,NM_001166415 EHHADH,EHHADH EXON Missense_R622C,Missense_R526C exm369931 3 184910372 [T/C] NM_001966,NM_001166415 EHHADH,EHHADH EXON Missense_K605R,Missense_K509R exm369932 3 184910381 [T/C] NM_001966,NM_001166415 EHHADH,EHHADH EXON Missense_R602Q,Missense_R506Q exm369933 3 184910382 [A/G] NM_001966,NM_001166415 EHHADH,EHHADH EXON Missense_R602W,Missense_R506W exm369935 3 184910520 [T/C] NM_001966,NM_001166415 EHHADH,EHHADH EXON Missense_R556G,Missense_R460G exm369937 3 184910535 [A/G] NM_001966,NM_001166415 EHHADH,EHHADH EXON Nonsense_R551X,Nonsense_R455X exm369945 3 184910738 [T/C] NM_001966,NM_001166415 EHHADH,EHHADH EXON Missense_R483Q,Missense_R387Q exm369948 3 184910807 [A/G] NM_001966,NM_001166415 EHHADH,EHHADH EXON Missense_M460T,Missense_M364T exm369952 3 184910915 [T/C] NM_001966,NM_001166415 EHHADH,EHHADH EXON Missense_R424H,Missense_R328H exm369960 3 184911093 [A/C] NM_001966,NM_001166415 EHHADH,EHHADH EXON Missense_L365V,Missense_L269V exm369962 3 184911123 [T/C] NM_001966,NM_001166415 EHHADH,EHHADH EXON Missense_G355S,Missense_G259S exm369966 3 184911180 [T/C] NM_001966,NM_001166415 EHHADH,EHHADH EXON Missense_A336T,Missense_A240T exm369967 3 184911183 [T/C] NM_001966,NM_001166415 EHHADH,EHHADH EXON Missense_T335A,Missense_T239A exm369968 3 184911203 [A/G] NM_001966,NM_001166415 EHHADH,EHHADH EXON Missense_S328L,Missense_S232L exm2046021 3 184911267 [T/C] NM_001966,NM_001166415 EHHADH,EHHADH EXON Missense_T307A,Missense_T211A exm369978 3 184922207 [T/C] NM_001966,NM_001166415 EHHADH,EHHADH EXON Missense_V303I,Missense_V207I exm369981 3 184922233 [A/G] NM_001966,NM_001166415 EHHADH,EHHADH EXON Missense_A294V,Missense_A198V exm369984 3 184922267 [T/C] NM_001966,NM_001166415 EHHADH,EHHADH EXON Missense_T283A,Missense_T187A exm369985 3 184922294 [T/C] NM_001966,NM_001166415 EHHADH,EHHADH EXON Missense_A274T,Missense_A178T exm369988 3 184922351 [C/G] NM_001966,NM_001166415 EHHADH,EHHADH EXON Missense_L255V,Missense_L159V exm369991 3 184922396 [G/C] NM_001966,NM_001166415 EHHADH,EHHADH EXON Missense_A240P,Missense_A144P exm2239049 3 184922401 [T/A] NM_001966,NM_001166415 EHHADH,EHHADH EXON Missense_Q238L,Missense_Q142L exm369994 3 184922411 [A/G] NM_001966,NM_001166415 EHHADH,EHHADH EXON Missense_R235C,Missense_R139C exm369999 3 184922506 [A/C] NM_001966,NM_001166415 EHHADH,EHHADH EXON Missense_I203S,Missense_I107S exm-rs7374394 3 184945849 [T/C] NM_001966,NM_001166415 EHHADH,EHHADH Silent,Silent exm370014 3 184953127 [T/C] NM_001966,NM_001166415 EHHADH,EHHADH EXON Missense_G101E,Missense_G5E exm370019 3 184953238 [T/C] NM_001966,NM_001166415 EHHADH,EHHADH EXON Missense_R64H,Silent exm370036 3 185146473 [A/G] NM_001242317,NM_001242314,NM_004721 MAP3K13,MAP3K13,MAP3K13 EXON Silent,Missense_G35E,Missense_G35E exm370038 3 185146499 [A/G] NM_001242317,NM_001242314,NM_004721 MAP3K13,MAP3K13,MAP3K13 EXON Silent,Missense_E44K,Missense_E44K exm370040 3 185146540 [C/G] NM_001242317,NM_001242314,NM_004721 MAP3K13,MAP3K13,MAP3K13 EXON Silent,Missense_I57M,Missense_I57M exm370041 3 185146543 [C/G] NM_001242317,NM_001242314,NM_004721 MAP3K13,MAP3K13,MAP3K13 EXON Silent,Missense_E58D,Missense_E58D exm370042 3 185146547 [A/G] NM_001242317,NM_001242314,NM_004721 MAP3K13,MAP3K13,MAP3K13 EXON Silent,Missense_V60M,Missense_V60M exm370049 3 185146656 [T/C] NM_001242317,NM_001242314,NM_004721 MAP3K13,MAP3K13,MAP3K13 EXON Silent,Missense_A96V,Missense_A96V exm370051 3 185146727 [T/A] NM_001242317,NM_001242314,NM_004721 MAP3K13,MAP3K13,MAP3K13 EXON Silent,Missense_F120I,Missense_F120I exm370085 3 185169151 [A/G] NM_001242317,NM_001242314,NM_004721 MAP3K13,MAP3K13,MAP3K13 EXON Missense_A209T,Missense_A416T,Missense_A416T exm370094 3 185183567 [A/G] NM_001242317,NM_001242314,NM_004721 MAP3K13,MAP3K13,MAP3K13 EXON Missense_R267Q,Missense_R474Q,Missense_R474Q exm2046058 3 185184675 [A/G] NM_001242317,NM_001242314,NM_004721 MAP3K13,MAP3K13,MAP3K13 EXON Missense_I316V,Missense_I523V,Missense_I523V exm370106 3 185184738 [A/G] NM_001242317,NM_001242314,NM_004721 MAP3K13,MAP3K13,MAP3K13 EXON Missense_M337V,Missense_M544V,Missense_M544V exm370107 3 185190873 [A/G] NM_001242317,NM_001242314,NM_004721 MAP3K13,MAP3K13,MAP3K13 EXON Missense_R378Q,Missense_R585Q,Missense_R585Q exm370112 3 185191064 [T/C] NM_001242317,NM_001242314,NM_004721 MAP3K13,MAP3K13,MAP3K13 EXON Missense_S442P,Missense_S649P,Missense_S649P exm370113 3 185191071 [G/C] NM_001242317,NM_001242314,NM_004721 MAP3K13,MAP3K13,MAP3K13 EXON Missense_S444T,Missense_S651T,Missense_S651T exm370116 3 185191097 [A/G] NM_001242317,NM_001242314,NM_004721 MAP3K13,MAP3K13,MAP3K13 EXON Missense_G453R,Missense_G660R,Missense_G660R exm370120 3 185191200 [T/C] NM_001242317,NM_001242314,NM_004721 MAP3K13,MAP3K13,MAP3K13 EXON Missense_S487L,Missense_S694L,Missense_S694L exm370124 3 185191253 [A/G] NM_001242317,NM_001242314,NM_004721 MAP3K13,MAP3K13,MAP3K13 EXON Missense_E505K,Missense_E712K,Missense_E712K exm370127 3 185191371 [A/T] NM_001242317,NM_001242314,NM_004721 MAP3K13,MAP3K13,MAP3K13 EXON Missense_V544E,Missense_V751E,Missense_V751E exm370142 3 185198112 [A/G] NM_001242317,NM_001242314,NM_004721 MAP3K13,MAP3K13,MAP3K13 EXON Missense_D658G,Missense_D865G,Missense_D865G exm370143 3 185198129 [A/G] NM_001242317,NM_001242314,NM_004721 MAP3K13,MAP3K13,MAP3K13 EXON Missense_D664N,Missense_D871N,Missense_D871N exm370150 3 185198259 [A/G] NM_001242317,NM_001242314,NM_004721 MAP3K13,MAP3K13,MAP3K13 EXON Missense_R707H,Missense_R914H,Missense_R914H exm370153 3 185198317 [A/G] NM_001242317,NM_001242314,NM_004721 MAP3K13,MAP3K13,MAP3K13 EXON Synonymous_E726E,Synonymous_E933E,Synonymous_E933E exm370155 3 185200182 [G/C] NM_001242317,NM_001242314,NM_004721 MAP3K13,MAP3K13,MAP3K13 EXON Missense_D740H,Missense_D947H,Missense_D947H exm370160 3 185209413 [T/C] NM_080652 TMEM41A EXON Missense_G236E exm370161 3 185209416 [A/G] NM_080652 TMEM41A EXON Missense_P235L exm370164 3 185209476 [A/G] NM_080652 TMEM41A EXON Missense_A215V exm370170 3 185209534 [A/G] NM_080652 TMEM41A EXON Missense_Y196H exm370172 3 185212411 [G/C] NM_080652 TMEM41A EXON Missense_G192R exm370179 3 185212519 [A/G] NM_080652 TMEM41A EXON Missense_F156L exm370187 3 185214626 [A/G] NM_080652 TMEM41A EXON Missense_S88F exm370191 3 185214740 [T/C] NM_080652 TMEM41A EXON Missense_E50G exm2255878 3 185229464 [T/C] NM_139248 LIPH EXON Synonymous_K372K exm370217 3 185232284 [T/C] NM_139248 LIPH EXON Missense_I336M exm370223 3 185236930 [C/G] NM_139248 LIPH EXON Missense_G296R exm370227 3 185236959 [A/G] NM_139248 LIPH EXON Missense_T286M exm370239 3 185252562 [T/G] NM_139248 LIPH EXON Missense_D136E exm370250 3 185252849 [T/C] NM_139248 LIPH EXON Missense_V41M exm370252 3 185252919 [A/G] NM_139248 LIPH EXON Synonymous_D17D exm2269586 3 185307363 [T/G] NM_021627 SENP2 Silent exm370281 3 185327128 [A/G] NM_021627 SENP2 EXON Missense_N238D exm370282 3 185329450 [A/G] NM_021627 SENP2 EXON Missense_S245N exm370294 3 185331165 [A/C] NM_021627 SENP2 EXON Missense_T301K exm370299 3 185332439 [A/G] NM_021627 SENP2 EXON Missense_R341G exm370309 3 185341870 [T/C] NM_021627 SENP2 EXON Synonymous_H537H exm370315 3 185347580 [G/C] NM_021627 SENP2 EXON Missense_P573R exm370317 3 185347585 [T/C] NM_021627 SENP2 EXON Missense_F575L exm2255879 3 185375092 [A/G] NM_006548,NM_001007225 IGF2BP2,IGF2BP2 EXON Synonymous_F456F,Synonymous_F413F exm370334 3 185376148 [A/G] NM_006548,NM_001007225 IGF2BP2,IGF2BP2 EXON Missense_P417L,Missense_P374L exm370341 3 185390366 [T/C] NM_006548,NM_001007225 IGF2BP2,IGF2BP2 EXON Missense_R388H,Silent exm370344 3 185390447 [T/C] NM_006548,NM_001007225 IGF2BP2,IGF2BP2 EXON Missense_N361S,Silent exm2269698 3 185510613 [T/G] NM_006548,NM_001007225 IGF2BP2,IGF2BP2 Silent,Silent exm-rs4402960 3 185511687 [T/G] NM_006548,NM_001007225 IGF2BP2,IGF2BP2 Silent,Silent exm-rs7651090 3 185513392 [A/G] NM_006548,NM_001007225 IGF2BP2,IGF2BP2 Silent,Silent exm-rs1470579 3 185529080 [A/C] NM_006548,NM_001007225 IGF2BP2,IGF2BP2 Silent,Silent exm-rs6769511 3 185530290 [T/C] NM_006548,NM_001007225 IGF2BP2,IGF2BP2 Silent,Silent exm-rs720390 3 185548683 [A/G] exm-rs6444087 3 185621829 [A/G] exm-rs2002675 3 185629568 [A/G] exm370421 3 185638969 [C/G] NM_004593,NM_001243879 TRA2B,TRA2B EXON Missense_S215R,Missense_S115R exm-rs10049246 3 185686741 [A/G] NR_033752 LOC344887 Silent exm2239056 3 185775262 [T/C] NM_004454 ETV5 EXON Missense_D330G exm370475 3 185783611 [T/C] NM_004454 ETV5 EXON Missense_V301I exm370476 3 185783622 [T/C] NM_004454 ETV5 EXON Missense_R297Q exm370489 3 185797672 [T/C] NM_004454 ETV5 EXON Missense_R195Q exm370502 3 185798862 [T/C] NM_004454 ETV5 EXON Missense_Y112C exm370514 3 185823473 [T/C] NM_004454 ETV5 EXON Missense_R25Q exm-rs4686733 3 185830514 [A/G] exm-rs7647305 3 185834290 [T/C] exm-rs9816226 3 185834499 [T/A] exm2269587 3 185845583 [T/G] exm370525 3 185867892 [T/C] NM_001346,NM_001080744,NM_001080745 DGKG,DGKG,DGKG EXON Missense_R788H,Missense_R763H,Missense_R749H exm370530 3 185879392 [T/C] NM_001346,NM_001080744,NM_001080745 DGKG,DGKG,DGKG EXON Synonymous_T759T,Synonymous_T734T,Synonymous_T720T exm370546 3 185906067 [T/G] NM_001346,NM_001080744,NM_001080745 DGKG,DGKG,DGKG EXON Missense_N673K,Missense_N648K,Missense_N634K exm370547 3 185906099 [T/C] NM_001346,NM_001080744,NM_001080745 DGKG,DGKG,DGKG EXON Missense_M663V,Missense_M638V,Missense_M624V exm370548 3 185906117 [T/C] NM_001346,NM_001080744,NM_001080745 DGKG,DGKG,DGKG EXON Missense_I657V,Missense_I632V,Missense_I618V exm370549 3 185929584 [T/C] NM_001346,NM_001080744,NM_001080745 DGKG,DGKG,DGKG EXON Synonymous_E639E,Synonymous_E614E,Synonymous_E600E exm370570 3 185970924 [T/C] NM_001346,NM_001080744,NM_001080745 DGKG,DGKG,DGKG EXON Missense_G520R,Missense_G495R,Missense_G481R exm370571 3 185970936 [C/G] NM_001346,NM_001080744,NM_001080745 DGKG,DGKG,DGKG EXON Missense_V516L,Missense_V491L,Missense_V477L exm370572 3 185970950 [T/C] NM_001346,NM_001080744,NM_001080745 DGKG,DGKG,DGKG EXON Missense_H511R,Missense_H486R,Missense_H472R exm370573 3 185970970 [A/G] NM_001346,NM_001080744,NM_001080745 DGKG,DGKG,DGKG EXON Synonymous_D504D,Synonymous_D479D,Synonymous_D465D exm370582 3 185979555 [T/G] NM_001346,NM_001080744,NM_001080745 DGKG,DGKG,DGKG EXON Missense_P428T,Missense_P428T,Missense_P389T exm370585 3 185983047 [T/G] NM_001346,NM_001080744,NM_001080745 DGKG,DGKG,DGKG EXON Missense_L420I,Missense_L420I,Missense_L381I exm370595 3 185986598 [A/G] NM_001346,NM_001080744,NM_001080745 DGKG,DGKG,DGKG EXON Missense_R370W,Missense_R370W,Silent exm370600 3 185986694 [T/C] NM_001346,NM_001080744,NM_001080745 DGKG,DGKG,DGKG EXON Missense_A338T,Missense_A338T,Silent exm370604 3 185990091 [A/T] NM_001346,NM_001080744,NM_001080745 DGKG,DGKG,DGKG EXON Missense_I318F,Missense_I318F,Missense_I318F exm370605 3 185990096 [T/C] NM_001346,NM_001080744,NM_001080745 DGKG,DGKG,DGKG EXON Missense_R316K,Missense_R316K,Missense_R316K exm370606 3 185990109 [A/G] NM_001346,NM_001080744,NM_001080745 DGKG,DGKG,DGKG EXON Missense_R312C,Missense_R312C,Missense_R312C exm370623 3 185997726 [A/G] NM_001346,NM_001080744,NM_001080745 DGKG,DGKG,DGKG EXON Missense_R236W,Missense_R236W,Missense_R236W exm2046276 3 186002449 [T/C] NM_001346,NM_001080744,NM_001080745 DGKG,DGKG,DGKG EXON Synonymous_A198A,Synonymous_A198A,Synonymous_A198A exm370637 3 186002497 [C/G] NM_001346,NM_001080744,NM_001080745 DGKG,DGKG,DGKG EXON Missense_F182L,Missense_F182L,Missense_F182L exm370645 3 186006585 [T/C] NM_001346,NM_001080744,NM_001080745 DGKG,DGKG,DGKG EXON Missense_S153N,Missense_S153N,Missense_S153N exm370647 3 186006595 [A/G] NM_001346,NM_001080744,NM_001080745 DGKG,DGKG,DGKG EXON Missense_R150W,Missense_R150W,Missense_R150W exm370651 3 186006607 [A/G] NM_001346,NM_001080744,NM_001080745 DGKG,DGKG,DGKG EXON Missense_P146S,Missense_P146S,Missense_P146S exm370657 3 186006643 [A/G] NM_001346,NM_001080744,NM_001080745 DGKG,DGKG,DGKG EXON Missense_P134S,Missense_P134S,Missense_P134S exm370679 3 186016017 [A/G] NM_001346,NM_001080744,NM_001080745 DGKG,DGKG,DGKG EXON Missense_P49L,Missense_P49L,Missense_P49L exm2273985 3 186024707 [T/G] NM_001346,NM_001080744,NM_001080745 DGKG,DGKG,DGKG EXON Missense_Q43K,Missense_Q43K,Missense_Q43K exm2275222 3 186024765 [A/G] NM_001346,NM_001080744,NM_001080745 DGKG,DGKG,DGKG EXON Synonymous_Y23Y,Synonymous_Y23Y,Synonymous_Y23Y exm370693 3 186038220 [A/G] NM_001346,NM_001080744,NM_001080745 DGKG,DGKG,DGKG EXON Missense_T10I,Missense_T10I,Missense_T10I exm-rs6444127 3 186143744 [T/C] exm2255881 3 186177610 [T/C] NR_033844 LOC253573 Silent exm370705 3 186257193 [T/C] NM_017541 CRYGS EXON Missense_R72H exm370708 3 186257331 [T/C] NM_017541 CRYGS EXON Missense_D26G exm370711 3 186257369 [T/G] NM_017541 CRYGS EXON Missense_D13E exm370746 3 186272512 [T/C] NM_001134415,NM_018138 TBCCD1,TBCCD1 EXON Missense_S359G,Missense_S359G exm370747 3 186272688 [A/G] NM_001134415,NM_018138 TBCCD1,TBCCD1 EXON Nonsense_R349X,Nonsense_R349X exm2046304 3 186272719 [A/G] NM_001134415,NM_018138 TBCCD1,TBCCD1 EXON Synonymous_N338N,Synonymous_N338N exm370751 3 186272721 [T/C] NM_001134415,NM_018138 TBCCD1,TBCCD1 EXON Missense_N338D,Missense_N338D exm370754 3 186272754 [G/C] NM_001134415,NM_018138 TBCCD1,TBCCD1 EXON Missense_L327V,Missense_L327V exm2046308 3 186274304 [A/G] NM_001134415,NM_018138 TBCCD1,TBCCD1 EXON Synonymous_F251F,Synonymous_F251F exm370771 3 186274457 [A/C] NM_001134415,NM_018138 TBCCD1,TBCCD1 EXON Missense_H200Q,Missense_H200Q exm370774 3 186274507 [T/C] NM_001134415,NM_018138 TBCCD1,TBCCD1 EXON Missense_E184K,Missense_E184K exm2046312 3 186276213 [A/T] NM_001134415,NM_018138 TBCCD1,TBCCD1 EXON Missense_H162L,Missense_H162L exm370776 3 186276252 [T/C] NM_001134415,NM_018138 TBCCD1,TBCCD1 EXON Missense_K149R,Missense_K149R exm370796 3 186282064 [A/C] NM_001134415,NM_018138 TBCCD1,TBCCD1 EXON Missense_A19S,Missense_A19S exm2265645 3 186296304 [A/G] NM_016306 DNAJB11 Silent exm370831 3 186301661 [A/G] NM_016306 DNAJB11 EXON Missense_I250V exm2239065 3 186301681 [A/T] NM_016306 DNAJB11 EXON Missense_D256E exm370832 3 186301703 [A/G] NM_016306 DNAJB11 EXON Missense_I264V exm370833 3 186302231 [T/C] NM_016306 DNAJB11 EXON Missense_R289W exm370835 3 186302261 [G/C] NM_016306 DNAJB11 EXON Missense_L299V exm370855 3 186331138 [T/C] NM_001622 AHSG EXON Missense_P70S exm370862 3 186334974 [T/A] NM_001622 AHSG Silent exm370864 3 186334990 [T/G] NM_001622 AHSG EXON Missense_V142L exm370870 3 186335088 [G/C] NM_001622 AHSG EXON Missense_Q174H exm370874 3 186336328 [T/C] NM_001622 AHSG EXON Missense_L193F exm370881 3 186337713 [T/C] NM_001622 AHSG EXON Missense_M248T exm370882 3 186338382 [C/G] NM_001622 AHSG EXON Missense_S256T exm370883 3 186338397 [G/C] NM_001622 AHSG EXON Missense_P261R exm370887 3 186338429 [A/G] NM_001622 AHSG EXON Missense_V272M exm370892 3 186338501 [T/G] NM_001622 AHSG EXON Missense_D296Y exm370896 3 186338564 [T/C] NM_001622 AHSG EXON Missense_R317C exm370900 3 186338634 [A/G] NM_001622 AHSG EXON Missense_R340H exm370908 3 186358297 [C/G] NM_014375 FETUB EXON Missense_C16W exm370913 3 186358346 [T/C] NM_014375 FETUB EXON Missense_S33P exm2239066 3 186358424 [A/G] NM_014375 FETUB EXON Missense_G59S exm370923 3 186358446 [A/G] NM_014375 FETUB EXON Missense_R66Q exm370924 3 186358454 [A/G] NM_014375 FETUB EXON Missense_D69N exm370925 3 186358472 [T/C] NM_014375 FETUB EXON Missense_R75W exm370933 3 186360305 [A/G] NM_014375 FETUB EXON Missense_R128G exm370936 3 186360349 [T/G] NM_014375 FETUB Silent exm2255882 3 186362643 [A/G] NM_014375 FETUB EXON Synonymous_A176A exm370943 3 186364046 [A/G] NM_014375 FETUB EXON Missense_G202S exm2046390 3 186369038 [A/G] NM_014375 FETUB EXON Missense_R243Q exm370950 3 186369065 [T/A] NM_014375 FETUB EXON Missense_V252E exm2273986 3 186370098 [T/C] NM_014375 FETUB EXON Missense_T276I exm370968 3 186370350 [A/G] NM_014375 FETUB EXON Missense_K360R exm370977 3 186383798 [A/C] NM_000412 HRG EXON Silent exm370978 3 186383799 [T/C] NM_000412 HRG EXON Silent exm370989 3 186383892 [A/C] NM_000412 HRG EXON Nonsense_C24X exm2046398 3 186383930 [T/C] NM_000412 HRG EXON Missense_L37P exm370993 3 186383945 [A/G] NM_000412 HRG EXON Missense_R42Q exm370994 3 186383947 [T/C] NM_000412 HRG EXON Missense_R43W exm370995 3 186383956 [T/C] NM_000412 HRG EXON Missense_Y46H exm370997 3 186383975 [A/G] NM_000412 HRG EXON Missense_R52Q exm370999 3 186383987 [T/C] NM_000412 HRG EXON Missense_A56V exm371004 3 186386776 [C/G] NM_000412 HRG EXON Missense_S79W exm371009 3 186387779 [A/G] NM_000412 HRG EXON Missense_D118G exm371012 3 186389413 [A/C] NM_000412 HRG EXON Synonymous_V131V exm371014 3 186389439 [T/A] NM_000412 HRG EXON Missense_D140V exm371017 3 186389477 [A/C] NM_000412 HRG EXON Missense_R153S exm371019 3 186389555 [T/C] NM_000412 HRG EXON Nonsense_R179X exm371020 3 186389559 [T/C] NM_000412 HRG EXON Missense_I180T exm371029 3 186390627 [T/C] NM_000412 HRG EXON Missense_P204S exm371030 3 186390655 [A/G] NM_000412 HRG EXON Missense_N213S exm371034 3 186392881 [T/C] NM_000412 HRG EXON Missense_F215L exm371037 3 186392939 [T/C] NM_000412 HRG EXON Missense_P234L exm2046410 3 186392971 [A/G] NM_000412 HRG EXON Missense_D245N exm371040 3 186394864 [T/C] NM_000412 HRG EXON Missense_P257L exm371044 3 186394903 [A/G] NM_000412 HRG EXON Missense_R270H exm371047 3 186394957 [T/A] NM_000412 HRG EXON Missense_H288L exm371048 3 186394974 [T/G] NM_000412 HRG EXON Nonsense_E294X exm371049 3 186394975 [A/C] NM_000412 HRG EXON Missense_E294A exm371051 3 186395046 [T/C] NM_000412 HRG EXON Missense_P318S exm371053 3 186395056 [T/C] NM_000412 HRG EXON Missense_P321L exm371054 3 186395113 [A/G] NM_000412 HRG EXON Missense_H340R exm371060 3 186395145 [A/C] NM_000412 HRG EXON Missense_P351T exm371069 3 186395355 [C/G] NM_000412 HRG EXON Missense_P421A exm371071 3 186395387 [A/C] NM_000412 HRG EXON Missense_H431Q exm371073 3 186395400 [A/G] NM_000412 HRG EXON Missense_G436R exm371077 3 186395473 [A/G] NM_000412 HRG EXON Missense_R460Q exm2046415 3 186395553 [C/G] NM_000412 HRG EXON Missense_H487D exm371079 3 186395572 [A/T] NM_000412 HRG EXON Missense_N493I exm-rs11924390 3 186433099 [T/C] exm371093 3 186435412 [C/G] NM_001166451,NM_000893,NM_001102416 KNG1,KNG1,KNG1 EXON Missense_D27E,Missense_D27E,Missense_D27E exm371097 3 186435497 [T/G] NM_001166451,NM_000893,NM_001102416 KNG1,KNG1,KNG1 EXON Missense_L56V,Missense_L56V,Missense_L56V exm2046418 3 186435525 [T/C] NM_001166451,NM_000893,NM_001102416 KNG1,KNG1,KNG1 EXON Missense_T65M,Missense_T65M,Missense_T65M exm371099 3 186435526 [A/G] NM_001166451,NM_000893,NM_001102416 KNG1,KNG1,KNG1 EXON Synonymous_T65T,Synonymous_T65T,Synonymous_T65T exm371106 3 186440225 [A/G] NM_001166451,NM_000893,NM_001102416 KNG1,KNG1,KNG1 Silent,Silent,Silent exm371119 3 186442972 [A/G] NM_001166451,NM_000893,NM_001102416 KNG1,KNG1,KNG1 EXON Missense_G163S,Missense_G163S,Missense_G163S exm371120 3 186442978 [A/C] NM_001166451,NM_000893,NM_001102416 KNG1,KNG1,KNG1 EXON Missense_Q165K,Missense_Q165K,Missense_Q165K exm371121 3 186443018 [T/C] NM_001166451,NM_000893,NM_001102416 KNG1,KNG1,KNG1 EXON Missense_M178T,Missense_M178T,Missense_M178T exm371123 3 186445048 [A/G] NM_001166451,NM_000893,NM_001102416 KNG1,KNG1,KNG1 EXON Silent,Missense_R196Q,Missense_R196Q exm371125 3 186445052 [T/G] NM_001166451,NM_000893,NM_001102416 KNG1,KNG1,KNG1 EXON Silent,Missense_I197M,Missense_I197M exm371137 3 186450326 [A/G] NM_001166451,NM_000893,NM_001102416 KNG1,KNG1,KNG1 EXON Missense_V229M,Missense_V265M,Missense_V265M exm371141 3 186450441 [A/G] NM_001166451,NM_000893,NM_001102416 KNG1,KNG1,KNG1 EXON Missense_N267S,Missense_N303S,Missense_N303S exm371144 3 186456969 [A/G] NM_001166451,NM_000893,NM_001102416 KNG1,KNG1,KNG1 EXON Missense_E302K,Missense_E338K,Missense_E338K exm371149 3 186459384 [A/C] NM_001166451,NM_000893,NM_001102416 KNG1,KNG1,KNG1 EXON Missense_T364K,Missense_T400K,Missense_T400K exm371151 3 186459434 [T/C] NM_001166451,NM_000893,NM_001102416 KNG1,KNG1,KNG1 EXON Silent,Silent,Missense_R417W exm371157 3 186459475 [C/G] NM_001166451,NM_000893,NM_001102416 KNG1,KNG1,KNG1 EXON Silent,Silent,Missense_D430E exm2046453 3 186459496 [A/C] NM_001166451,NM_000893,NM_001102416 KNG1,KNG1,KNG1 EXON Silent,Silent,Missense_R437S exm2046454 3 186459530 [T/C] NM_001166451,NM_000893,NM_001102416 KNG1,KNG1,KNG1 EXON Silent,Silent,Missense_R449C exm2046456 3 186459842 [A/G] NM_001166451,NM_000893,NM_001102416 KNG1,KNG1,KNG1 EXON Silent,Silent,Missense_K553E exm371172 3 186459927 [T/C] NM_001166451,NM_000893,NM_001102416 KNG1,KNG1,KNG1 EXON Silent,Silent,Missense_I581T exm371180 3 186461524 [T/C] NM_001166451,NM_000893 KNG1,KNG1 EXON Nonsense_R376X,Nonsense_R412X exm-rs822354 3 186480206 [A/G] exm371182 3 186501361 [A/G] NM_001967 EIF4A2 EXON Silent exm371271 3 186507850 [T/C] NM_002916,NM_181573 RFC4,RFC4 EXON Missense_V334I,Missense_V334I exm371275 3 186507931 [A/G] NM_002916,NM_181573 RFC4,RFC4 EXON Synonymous_A332A,Synonymous_A332A exm371283 3 186508022 [A/G] NM_002916,NM_181573 RFC4,RFC4 EXON Missense_A302V,Missense_A302V exm2239072 3 186508026 [A/G] NM_002916,NM_181573 RFC4,RFC4 EXON Missense_H301Y,Missense_H301Y exm371288 3 186508131 [A/G] NM_002916,NM_181573 RFC4,RFC4 EXON Missense_L289P,Missense_L289P exm371292 3 186508158 [A/G] NM_002916,NM_181573 RFC4,RFC4 EXON Missense_A280V,Missense_A280V exm371297 3 186509524 [A/T] NM_002916,NM_181573 RFC4,RFC4 EXON Missense_D264V,Missense_D264V exm371299 3 186509573 [T/C] NM_002916,NM_181573 RFC4,RFC4 EXON Missense_A248T,Missense_A248T exm371301 3 186510315 [T/G] NM_002916,NM_181573 RFC4,RFC4 EXON Missense_D213E,Missense_D213E exm371306 3 186510593 [T/C] NM_002916,NM_181573 RFC4,RFC4 EXON Missense_R185Q,Missense_R185Q exm371316 3 186512517 [A/G] NM_002916,NM_181573 RFC4,RFC4 EXON Missense_R114C,Missense_R114C exm371317 3 186512553 [A/G] NM_002916,NM_181573 RFC4,RFC4 EXON Nonsense_R102X,Nonsense_R102X exm371324 3 186518935 [T/C] NM_002916,NM_181573 RFC4,RFC4 EXON Missense_V61M,Missense_V61M exm371326 3 186518958 [C/G] NM_002916,NM_181573 RFC4,RFC4 EXON Missense_A53G,Missense_A53G exm371331 3 186522456 [A/G] NM_002916,NM_181573 RFC4,RFC4 EXON Missense_L16P,Missense_L16P exm-rs266717 3 186530484 [T/C] exm-rs1648707 3 186551711 [A/C] exm-rs864265 3 186554292 [T/G] exm-rs17366568 3 186570453 [A/G] NM_001177800,NM_004797,NR_046662 ADIPOQ,ADIPOQ,ADIPOQ-AS1 EXON Silent,Silent,Silent exm371338 3 186570873 [A/T] NM_001177800,NM_004797,NR_046662 ADIPOQ,ADIPOQ,ADIPOQ-AS1 EXON Missense_L9Q,Missense_L9Q,Silent exm371347 3 186570960 [A/G] NM_001177800,NM_004797,NR_046662 ADIPOQ,ADIPOQ,ADIPOQ-AS1 EXON Missense_G38D,Missense_G38D,Silent exm2239075 3 186570980 [C/G] NM_001177800,NM_004797,NR_046662 ADIPOQ,ADIPOQ,ADIPOQ-AS1 EXON Missense_G45R,Missense_G45R,Silent exm371350 3 186571010 [T/C] NM_001177800,NM_004797,NR_046662 ADIPOQ,ADIPOQ,ADIPOQ-AS1 EXON Missense_R55C,Missense_R55C,Silent exm371354 3 186571979 [T/C] NM_001177800,NM_004797,NR_046662 ADIPOQ,ADIPOQ,ADIPOQ-AS1 EXON Missense_I74T,Missense_I74T,Silent exm371358 3 186572026 [A/G] NM_001177800,NM_004797,NR_046662 ADIPOQ,ADIPOQ,ADIPOQ-AS1 EXON Missense_G90S,Missense_G90S,Silent exm371362 3 186572089 [T/C] NM_001177800,NM_004797,NR_046662 ADIPOQ,ADIPOQ,ADIPOQ-AS1 EXON Missense_Y111H,Missense_Y111H,Silent exm2046541 3 186572419 [A/C] NM_001177800,NM_004797,NR_046662 ADIPOQ,ADIPOQ,ADIPOQ-AS1 EXON Missense_R221S,Missense_R221S,Silent exm2046542 3 186572480 [A/C] NM_001177800,NM_004797,NR_046662 ADIPOQ,ADIPOQ,ADIPOQ-AS1 EXON Missense_H241P,Missense_H241P,Silent exm-rs6773957 3 186573705 [A/G] NM_001177800,NM_004797,NR_046662 ADIPOQ,ADIPOQ,ADIPOQ-AS1 EXON Silent,Silent,Silent exm-rs10937275 3 186650790 [A/G] NM_173217,NM_173216 ST6GAL1,ST6GAL1 Silent,Silent exm371390 3 186760726 [A/G] NM_173217,NM_173216,NM_003032 ST6GAL1,ST6GAL1,ST6GAL1 EXON Silent,Missense_G79S,Missense_G79S exm371397 3 186760912 [T/C] NM_173217,NM_173216,NM_003032 ST6GAL1,ST6GAL1,ST6GAL1 EXON Silent,Missense_R141C,Missense_R141C exm371400 3 186760925 [A/G] NM_173217,NM_173216,NM_003032 ST6GAL1,ST6GAL1,ST6GAL1 EXON Silent,Missense_R145Q,Missense_R145Q exm371430 3 186793363 [C/G] NM_173217,NM_173216,NM_003032 ST6GAL1,ST6GAL1,ST6GAL1 EXON Missense_M100I,Missense_M331I,Missense_M331I exm2265540 3 186812036 [A/G] exm371448 3 186839079 [A/G] NM_052969 RPL39L EXON Missense_H4Y exm371456 3 186915414 [A/G] NM_153708 RTP1 EXON Missense_M37I exm2255884 3 186915426 [A/G] NM_153708 RTP1 EXON Synonymous_V41V exm371466 3 186917382 [G/C] NM_153708 RTP1 EXON Missense_V106L exm2046576 3 186917405 [A/C] NM_153708 RTP1 EXON Missense_F113L exm2046581 3 186917577 [A/G] NM_153708 RTP1 EXON Missense_G171S exm371479 3 186917586 [T/C] NM_153708 RTP1 EXON Missense_R174C exm371489 3 186917728 [T/C] NM_153708 RTP1 EXON Missense_P221L exm371491 3 186917751 [G/C] NM_153708 RTP1 EXON Missense_Q229E exm371493 3 186917823 [A/G] NM_153708 RTP1 EXON Missense_I253V exm371495 3 186917837 [A/C] NM_153708 RTP1 EXON Missense_F257L exm371511 3 186938912 [A/G] NM_001879 MASP1 EXON Missense_P607L exm371515 3 186940937 [A/C] NM_001879 MASP1 EXON Missense_R596M exm371521 3 186943150 [A/G] NM_001879 MASP1 EXON Missense_V568A exm371530 3 186943244 [G/C] NM_001879 MASP1 EXON Missense_H537D exm371533 3 186943280 [A/G] NM_001879 MASP1 EXON Missense_R525W exm371534 3 186944222 [T/C] NM_001879 MASP1 EXON Missense_S510G exm371535 3 186944239 [T/C] NM_001879 MASP1 EXON Missense_R504H exm371549 3 186947680 [T/C] NM_001879 MASP1 EXON Missense_G437R exm371566 3 186953728 [A/G] NM_001879,NR_033519,NM_139125 MASP1,MASP1,MASP1 EXON Silent,Silent,Missense_T644M exm371583 3 186953932 [A/C] NM_001879,NR_033519,NM_139125 MASP1,MASP1,MASP1 EXON Silent,Silent,Missense_R576M exm371597 3 186954107 [T/C] NM_001879,NR_033519,NM_139125 MASP1,MASP1,MASP1 EXON Silent,Silent,Missense_V518I exm371601 3 186954139 [A/G] NM_001879,NR_033519,NM_139125 MASP1,MASP1,MASP1 EXON Silent,Silent,Missense_T507M exm371603 3 186954152 [A/G] NM_001879,NR_033519,NM_139125 MASP1,MASP1,MASP1 EXON Silent,Silent,Missense_R503C exm371614 3 186954298 [T/C] NM_001879,NR_033519,NM_139125 MASP1,MASP1,MASP1 EXON Silent,Silent,Missense_R454Q exm371616 3 186954307 [A/G] NM_001879,NR_033519,NM_139125 MASP1,MASP1,MASP1 EXON Silent,Silent,Missense_I451T exm371619 3 186954337 [T/C] NM_001879,NR_033519,NM_139125 MASP1,MASP1,MASP1 EXON Silent,Silent,Missense_R441H exm371621 3 186959295 [T/C] NM_001879,NR_033519,NM_139125 MASP1,MASP1,MASP1 EXON Missense_G426E,Silent,Missense_G426E exm371627 3 186961313 [A/G] NM_001879,NR_033519,NM_139125 MASP1,MASP1,MASP1 EXON Missense_S396F,Silent,Missense_S396F exm371631 3 186961364 [A/G] NM_001879,NR_033519,NM_139125 MASP1,MASP1,MASP1 EXON Missense_T379I,Silent,Missense_T379I exm371636 3 186965162 [T/C] NM_001879,NR_033519,NM_139125,NM_001031849 MASP1,MASP1,MASP1,MASP1 EXON Silent,Silent,Silent,Missense_D368N exm371649 3 186969523 [T/G] NM_001879,NR_033519,NM_139125,NM_001031849 MASP1,MASP1,MASP1,MASP1 EXON Missense_L304I,Silent,Missense_L304I,Missense_L304I exm371650 3 186969529 [A/G] NM_001879,NR_033519,NM_139125,NM_001031849 MASP1,MASP1,MASP1,MASP1 EXON Missense_P302S,Silent,Missense_P302S,Missense_P302S exm371655 3 186974465 [T/C] NM_001879,NR_033519,NM_139125,NM_001031849 MASP1,MASP1,MASP1,MASP1 EXON Missense_Y244C,Silent,Missense_Y244C,Missense_Y244C exm371658 3 186974522 [T/C] NM_001879,NR_033519,NM_139125,NM_001031849 MASP1,MASP1,MASP1,MASP1 EXON Missense_N225S,Silent,Missense_N225S,Missense_N225S exm371667 3 186978577 [A/G] NM_001879,NR_033519,NM_139125,NM_001031849 MASP1,MASP1,MASP1,MASP1 EXON Missense_S167P,Silent,Missense_S167P,Missense_S167P exm2046630 3 186978589 [T/C] NM_001879,NR_033519,NM_139125,NM_001031849 MASP1,MASP1,MASP1,MASP1 EXON Missense_G163S,Silent,Missense_G163S,Missense_G163S exm371670 3 186978659 [A/G] NM_001879,NR_033519,NM_139125,NM_001031849 MASP1,MASP1,MASP1,MASP1 EXON Synonymous_D139D,Silent,Synonymous_D139D,Synonymous_D139D exm371672 3 186980390 [T/C] NM_001879,NR_033519,NM_139125,NM_001031849 MASP1,MASP1,MASP1,MASP1 EXON Missense_R119Q,Silent,Missense_R119Q,Missense_R119Q exm371675 3 186980439 [T/C] NM_001879,NR_033519,NM_139125,NM_001031849 MASP1,MASP1,MASP1,MASP1 EXON Missense_G103S,Silent,Missense_G103S,Missense_G103S exm371684 3 187003786 [T/C] NM_001879,NR_033519,NM_139125,NM_001031849 MASP1,MASP1,MASP1,MASP1 EXON Missense_V22M,Silent,Missense_V22M,Missense_V22M exm371686 3 187003843 [A/G] NM_001879,NR_033519,NM_139125,NM_001031849 MASP1,MASP1,MASP1,MASP1 EXON Missense_W3R,Silent,Missense_W3R,Missense_W3R exm371702 3 187086251 [T/G] NM_022147 RTP4 EXON Missense_W8G exm371704 3 187086359 [A/C] NM_022147 RTP4 EXON Missense_Q44K exm371706 3 187088578 [T/G] NM_022147 RTP4 EXON Missense_F53C exm371707 3 187088598 [T/C] NM_022147 RTP4 EXON Nonsense_R60X exm2255885 3 187088612 [T/C] NM_022147 RTP4 EXON Synonymous_S64S exm371710 3 187088613 [A/G] NM_022147 RTP4 EXON Missense_A65T exm371712 3 187088656 [T/C] NM_022147 RTP4 EXON Missense_T79I exm371716 3 187088707 [A/G] NM_022147 RTP4 EXON Missense_C96Y exm371718 3 187088745 [G/C] NM_022147 RTP4 EXON Missense_D109H exm371724 3 187088923 [A/G] NM_022147 RTP4 EXON Missense_S168N exm371725 3 187088926 [A/G] NM_022147 RTP4 EXON Missense_C169Y exm371727 3 187088958 [T/C] NM_022147 RTP4 EXON Missense_H180Y exm371730 3 187089031 [A/C] NM_022147 RTP4 EXON Missense_A204D exm-rs2378269 3 187223226 [T/G] exm2264019 3 187348969 [A/C] exm371740 3 187386972 [T/C] NM_001048 SST EXON Missense_E78K exm371743 3 187387016 [A/G] NM_001048 SST EXON Missense_T63M exm371745 3 187387022 [T/G] NM_001048 SST EXON Missense_N61T exm371761 3 187416373 [A/C] NM_001004312 RTP2 EXON Missense_L197F exm371766 3 187416478 [G/C] NM_001004312 RTP2 EXON Missense_I162M exm371798 3 187419816 [T/C] NM_001004312 RTP2 EXON Missense_N34S exm371830 3 187444543 [G/C] NR_034062,NM_001706,NM_001130845,NM_001134738 LOC100131635,BCL6,BCL6,BCL6 EXON Silent,Missense_A562P,Missense_A562P,Silent exm2239082 3 187444610 [G/C] NR_034062,NM_001706,NM_001130845,NM_001134738 LOC100131635,BCL6,BCL6,BCL6 EXON Silent,Missense_Q539H,Missense_Q539H,Silent exm2239083 3 187444617 [A/G] NR_034062,NM_001706,NM_001130845,NM_001134738 LOC100131635,BCL6,BCL6,BCL6 EXON Silent,Missense_T537M,Missense_T537M,Silent exm371841 3 187446211 [T/C] NR_034062,NM_001706,NM_001130845,NM_001134738 LOC100131635,BCL6,BCL6,BCL6 EXON Silent,Missense_A493T,Missense_A493T,Missense_A493T exm371848 3 187446312 [T/C] NR_034062,NM_001706,NM_001130845,NM_001134738 LOC100131635,BCL6,BCL6,BCL6 EXON Silent,Missense_R459H,Missense_R459H,Missense_R459H exm371849 3 187446313 [A/G] NR_034062,NM_001706,NM_001130845,NM_001134738 LOC100131635,BCL6,BCL6,BCL6 EXON Silent,Missense_R459C,Missense_R459C,Missense_R459C exm2046683 3 187446845 [T/C] NR_034062,NM_001706,NM_001130845,NM_001134738 LOC100131635,BCL6,BCL6,BCL6 EXON Silent,Missense_V450I,Missense_V450I,Missense_V450I exm371854 3 187446941 [T/G] NR_034062,NM_001706,NM_001130845,NM_001134738 LOC100131635,BCL6,BCL6,BCL6 EXON Silent,Missense_M418L,Missense_M418L,Missense_M418L exm371858 3 187446988 [T/C] NR_034062,NM_001706,NM_001130845,NM_001134738 LOC100131635,BCL6,BCL6,BCL6 EXON Silent,Missense_R402H,Missense_R402H,Missense_R402H exm371863 3 187447027 [T/C] NR_034062,NM_001706,NM_001130845,NM_001134738 LOC100131635,BCL6,BCL6,BCL6 EXON Silent,Missense_N389S,Missense_N389S,Missense_N389S exm371868 3 187447219 [T/C] NR_034062,NM_001706,NM_001130845,NM_001134738 LOC100131635,BCL6,BCL6,BCL6 EXON Silent,Missense_R325Q,Missense_R325Q,Missense_R325Q exm371886 3 187447619 [A/G] NR_034062,NM_001706,NM_001130845,NM_001134738 LOC100131635,BCL6,BCL6,BCL6 EXON Silent,Missense_P192S,Missense_P192S,Missense_P192S exm371895 3 187447714 [T/C] NR_034062,NM_001706,NM_001130845,NM_001134738 LOC100131635,BCL6,BCL6,BCL6 EXON Silent,Missense_R160H,Missense_R160H,Missense_R160H exm2046698 3 187451339 [A/G] NM_001706,NM_001130845,NM_001134738 BCL6,BCL6,BCL6 EXON Missense_T48M,Missense_T48M,Missense_T48M exm-rs9820070 3 187687074 [A/C] exm2255887 3 187753889 [T/G] exm2265647 3 187930047 [A/G] NM_001167672 LPP Silent exm-rs1464510 3 188112554 [A/C] NM_001167672,NM_005578,NM_001167671 LPP,LPP,LPP Silent,Silent,Silent exm371928 3 188123957 [A/G] NM_001167672,NM_005578,NM_001167671 LPP,LPP,LPP EXON Missense_G17S,Missense_G17S,Missense_G17S exm371929 3 188123972 [T/C] NM_001167672,NM_005578,NM_001167671 LPP,LPP,LPP EXON Missense_R22W,Missense_R22W,Missense_R22W exm2265541 3 188181560 [A/G] NM_001167672,NM_005578,NM_001167671 LPP,LPP,LPP Silent,Silent,Silent exm371947 3 188326955 [A/G] NM_001167672,NM_005578,NM_001167671 LPP,LPP,LPP EXON Missense_T146A,Missense_T146A,Missense_T146A exm371950 3 188326970 [T/C] NM_001167672,NM_005578,NM_001167671 LPP,LPP,LPP EXON Missense_S151P,Missense_S151P,Missense_S151P exm371954 3 188327019 [T/C] NM_001167672,NM_005578,NM_001167671 LPP,LPP,LPP EXON Missense_P167L,Missense_P167L,Missense_P167L exm371956 3 188327060 [A/G] NM_001167672,NM_005578,NM_001167671 LPP,LPP,LPP EXON Missense_K181E,Missense_K181E,Missense_K181E exm371964 3 188327139 [T/C] NM_001167672,NM_005578,NM_001167671 LPP,LPP,LPP EXON Missense_P207L,Missense_P207L,Missense_P207L exm371966 3 188327154 [T/C] NM_001167672,NM_005578,NM_001167671 LPP,LPP,LPP EXON Missense_T212M,Missense_T212M,Missense_T212M exm371969 3 188327256 [T/C] NM_001167672,NM_005578,NM_001167671 LPP,LPP,LPP EXON Silent,Missense_S246L,Missense_S246L exm371970 3 188327261 [T/C] NM_001167672,NM_005578,NM_001167671 LPP,LPP,LPP EXON Silent,Missense_P248S,Missense_P248S exm371972 3 188327294 [T/C] NM_001167672,NM_005578,NM_001167671 LPP,LPP,LPP EXON Silent,Missense_S259P,Missense_S259P exm371973 3 188327303 [T/C] NM_001167672,NM_005578,NM_001167671 LPP,LPP,LPP EXON Silent,Missense_C262R,Missense_C262R exm371975 3 188327322 [A/G] NM_001167672,NM_005578,NM_001167671 LPP,LPP,LPP EXON Silent,Missense_R268Q,Missense_R268Q exm371981 3 188327388 [C/G] NM_001167672,NM_005578,NM_001167671 LPP,LPP,LPP EXON Silent,Missense_A290G,Missense_A290G exm371983 3 188327402 [T/C] NM_001167672,NM_005578,NM_001167671 LPP,LPP,LPP EXON Silent,Missense_R295C,Missense_R295C exm371984 3 188327403 [A/G] NM_001167672,NM_005578,NM_001167671 LPP,LPP,LPP EXON Silent,Missense_R295H,Missense_R295H exm371986 3 188327412 [A/G] NM_001167672,NM_005578,NM_001167671 LPP,LPP,LPP EXON Silent,Missense_E298G,Missense_E298G exm371991 3 188327445 [A/G] NM_001167672,NM_005578,NM_001167671 LPP,LPP,LPP EXON Silent,Missense_G309D,Missense_G309D exm371999 3 188327555 [T/C] NM_001167672,NM_005578,NM_001167671 LPP,LPP,LPP EXON Silent,Missense_Y346H,Missense_Y346H exm372000 3 188327559 [T/C] NM_001167672,NM_005578,NM_001167671 LPP,LPP,LPP EXON Silent,Missense_P347L,Missense_P347L exm372002 3 188327606 [T/C] NM_001167672,NM_005578,NM_001167671 LPP,LPP,LPP EXON Silent,Missense_P363S,Missense_P363S exm372005 3 188327615 [T/C] NM_001167672,NM_005578,NM_001167671 LPP,LPP,LPP EXON Silent,Missense_P366S,Missense_P366S exm-rs1152846 3 188420897 [T/C] NM_001167672,NM_005578,NM_001167671 LPP,LPP,LPP Silent,Silent,Silent exm2046722 3 188426077 [A/G] NM_001167672,NM_005578,NM_001167671 LPP,LPP,LPP EXON Missense_G232E,Missense_G379E,Missense_G379E exm372017 3 188426103 [T/C] NM_001167672,NM_005578,NM_001167671 LPP,LPP,LPP EXON Missense_R241C,Missense_R388C,Missense_R388C exm372022 3 188426172 [A/G] NM_001167672,NM_005578,NM_001167671 LPP,LPP,LPP EXON Missense_E264K,Missense_E411K,Missense_E411K exm372032 3 188478014 [T/C] NM_001167672,NM_005578,NM_001167671 LPP,LPP,LPP EXON Nonsense_R305X,Nonsense_R452X,Nonsense_R452X exm372037 3 188478047 [A/G] NM_001167672,NM_005578,NM_001167671 LPP,LPP,LPP EXON Missense_A316T,Missense_A463T,Missense_A463T exm-rs2378446 3 188568652 [T/G] NM_001167672,NM_005578,NM_001167671 LPP,LPP,LPP Silent,Silent,Silent exm372041 3 188584051 [G/C] NM_001167672,NM_005578,NM_001167671 LPP,LPP,LPP EXON Missense_G345R,Missense_G492R,Missense_G492R exm372042 3 188584061 [A/G] NM_001167672,NM_005578,NM_001167671 LPP,LPP,LPP EXON Missense_Y348C,Missense_Y495C,Missense_Y495C exm372053 3 188592145 [A/G] NM_001167672,NM_005578,NM_001167671 LPP,LPP,LPP EXON Missense_G426S,Missense_G573S,Missense_G573S exm372055 3 188592226 [T/C] NM_001167672,NM_005578,NM_001167671 LPP,LPP,LPP EXON Missense_R453C,Missense_R600C,Missense_R600C exm372056 3 188592227 [A/G] NM_001167672,NM_005578,NM_001167671 LPP,LPP,LPP EXON Missense_R453H,Missense_R600H,Missense_R600H exm2255889 3 188605426 [A/G] NM_001167672,NM_005578,NM_001167671 LPP,LPP,LPP EXON Silent,Silent,Silent exm2265648 3 188694749 [A/G] exm372071 3 188925364 [A/G] NM_198485 TPRG1 EXON Missense_R64Q exm372072 3 188925368 [T/G] NM_198485 TPRG1 EXON Missense_K65N exm372076 3 188933091 [T/C] NM_198485 TPRG1 EXON Missense_I74T exm372079 3 188933136 [T/C] NM_198485 TPRG1 EXON Missense_S89F exm2269590 3 188956297 [T/C] NM_198485 TPRG1 Silent exm372086 3 188956641 [T/G] NM_198485,NR_046722 TPRG1,TPRG1-AS2 EXON Missense_S141I,Silent exm372088 3 189028174 [A/G] NM_198485 TPRG1 Silent exm2273987 3 189038590 [A/G] NM_198485 TPRG1 EXON Missense_R270H exm-rs7610017 3 189343424 [A/G] exm-rs4488809 3 189356261 [T/C] NM_001114979,NM_003722,NM_001114978 TP63,TP63,TP63 Silent,Silent,Silent exm-rs10937405 3 189383183 [T/C] NM_001114979,NM_003722,NM_001114978 TP63,TP63,TP63 Silent,Silent,Silent exm2269591 3 189441364 [T/G] NM_001114979,NM_003722,NM_001114978 TP63,TP63,TP63 Silent,Silent,Silent exm372151 3 189584543 [A/T] NM_001114979,NM_003722,NM_001114978,NM_001114980,NM_001114981,NM_001114982 TP63,TP63,TP63,TP63,TP63,TP63 EXON Missense_I280N,Missense_I280N,Missense_I280N,Missense_I186N,Missense_I186N,Missense_I186N exm372161 3 189586503 [A/G] NM_001114979,NM_003722,NM_001114978,NM_001114980,NM_001114981,NM_001114982 TP63,TP63,TP63,TP63,TP63,TP63 EXON Missense_R376H,Missense_R376H,Missense_R376H,Missense_R282H,Missense_R282H,Missense_R282H exm372163 3 189587113 [T/C] NM_001114979,NM_003722,NM_001114978,NM_001114980,NM_001114981,NM_001114982 TP63,TP63,TP63,TP63,TP63,TP63 EXON Missense_P377L,Missense_P377L,Missense_P377L,Missense_P283L,Missense_P283L,Missense_P283L exm372186 3 189607152 [A/C] NM_003722,NM_001114978,NM_001114980,NM_001114981 TP63,TP63,TP63,TP63 EXON Missense_P511T,Missense_P511T,Missense_P417T,Missense_P417T exm372198 3 189612062 [A/G] NM_003722,NM_001114978,NM_001114980,NM_001114981 TP63,TP63,TP63,TP63 EXON Missense_R605Q,Silent,Missense_R511Q,Silent exm372207 3 189612269 [A/G] NM_003722,NM_001114978,NM_001114980,NM_001114981 TP63,TP63,TP63,TP63 EXON Missense_R674H,Silent,Missense_R580H,Silent exm-rs710521 3 189645933 [T/C] exm372215 3 189681806 [T/C] NM_001134418,NM_018192 LEPREL1,LEPREL1 EXON Missense_K478E,Missense_K659E exm372233 3 189689778 [T/C] NM_001134418,NM_018192 LEPREL1,LEPREL1 EXON Missense_N392S,Missense_N573S exm372251 3 189692370 [A/G] NM_001134418,NM_018192 LEPREL1,LEPREL1 EXON Missense_R296W,Missense_R477W exm372254 3 189692391 [T/C] NM_001134418,NM_018192 LEPREL1,LEPREL1 EXON Missense_V289I,Missense_V470I exm372262 3 189700903 [A/C] NM_001134418,NM_018192 LEPREL1,LEPREL1 EXON Missense_G238V,Missense_G419V exm372264 3 189702346 [T/C] NM_001134418,NM_018192 LEPREL1,LEPREL1 EXON Missense_E227K,Missense_E408K exm2239089 3 189702375 [T/C] NM_001134418,NM_018192 LEPREL1,LEPREL1 EXON Missense_Y217C,Missense_Y398C exm372272 3 189704596 [T/C] NM_001134418,NM_018192 LEPREL1,LEPREL1 EXON Missense_G209E,Missense_G390E exm372283 3 189706699 [A/G] NM_001134418,NM_018192 LEPREL1,LEPREL1 EXON Nonsense_R137X,Nonsense_R318X exm2046824 3 189706762 [A/G] NM_001134418,NM_018192 LEPREL1,LEPREL1 EXON Missense_R116C,Missense_R297C exm372288 3 189706798 [A/G] NM_001134418,NM_018192 LEPREL1,LEPREL1 EXON Missense_H104Y,Missense_H285Y exm2046826 3 189711922 [A/T] NM_001134418,NM_018192 LEPREL1,LEPREL1 EXON Missense_Y81N,Missense_Y262N exm2046827 3 189711924 [A/T] NM_001134418,NM_018192 LEPREL1,LEPREL1 EXON Missense_E80V,Missense_E261V exm2046828 3 189711927 [T/A] NM_001134418,NM_018192 LEPREL1,LEPREL1 EXON Missense_Y79F,Missense_Y260F exm372300 3 189713157 [A/C] NM_001134418,NM_018192 LEPREL1,LEPREL1 EXON Missense_Q4H,Missense_Q185H exm372302 3 189713194 [C/G] NM_001134418,NM_018192 LEPREL1,LEPREL1 EXON Silent,Missense_T173R exm2269699 3 189823287 [T/G] NM_001134418,NM_018192 LEPREL1,LEPREL1 Silent,Silent exm372313 3 189838136 [A/C] NM_001134418,NM_018192 LEPREL1,LEPREL1 EXON Silent,Missense_G129W exm372314 3 189838142 [A/G] NM_001134418,NM_018192 LEPREL1,LEPREL1 EXON Silent,Missense_R127C exm372316 3 189838208 [T/C] NM_001134418,NM_018192 LEPREL1,LEPREL1 EXON Silent,Missense_A105T exm-rs16865258 3 189997396 [T/C] exm372331 3 190026083 [T/C] NM_021101 CLDN1 EXON Missense_G207R exm372333 3 190026137 [T/C] NM_021101 CLDN1 EXON Missense_K189E exm2046847 3 190030667 [A/G] NM_021101 CLDN1 EXON Missense_L128F exm372342 3 190030679 [T/C] NM_021101 CLDN1 EXON Missense_A124T exm2255893 3 190030680 [A/G] NM_021101 CLDN1 EXON Synonymous_G123G exm372355 3 190039860 [A/T] NM_021101 CLDN1 EXON Missense_M46L exm372358 3 190039955 [A/G] NM_021101 CLDN1 EXON Missense_A14V exm2269592 3 190056322 [T/C] exm372365 3 190105985 [A/G] NM_006580 CLDN16 EXON Missense_G26D exm372368 3 190106053 [T/C] NM_006580 CLDN16 EXON Missense_R49C exm372369 3 190106072 [A/G] NM_006580 CLDN16 EXON Missense_R55K exm372370 3 190106074 [G/C] NM_006580 CLDN16 EXON Missense_A56P exm372371 3 190106078 [T/G] NM_006580 CLDN16 EXON Missense_G57V exm372378 3 190106163 [C/G] NM_006580 CLDN16 EXON Missense_F85L exm2255894 3 190120203 [T/C] NM_006580 CLDN16 EXON Synonymous_Y134Y exm372398 3 190126178 [A/G] NM_006580 CLDN16 EXON Missense_N223S exm372403 3 190126282 [T/C] NM_006580 CLDN16 EXON Missense_Y258H exm372405 3 190127737 [A/G] NM_006580 CLDN16 EXON Missense_Y277C exm372406 3 190127743 [A/C] NM_006580 CLDN16 EXON Missense_A279D exm372408 3 190127779 [G/C] NM_006580 CLDN16 EXON Missense_P291R exm2046864 3 190147482 [T/G] NM_207316 TMEM207 EXON Missense_L115I exm372418 3 190158039 [T/C] NM_207316 TMEM207 EXON Missense_I100V exm372419 3 190158078 [T/G] NM_207316 TMEM207 EXON Missense_R87S exm372421 3 190158168 [C/G] NM_207316 TMEM207 EXON Missense_L57V exm372429 3 190165579 [A/C] NM_207316 TMEM207 EXON Missense_M38R exm372433 3 190165595 [A/G] NM_207316 TMEM207 EXON Missense_C33R exm2046877 3 190165606 [A/G] NM_207316 TMEM207 EXON Missense_S29L exm372439 3 190167534 [A/G] NM_207316 TMEM207 EXON Missense_P22L exm372441 3 190167555 [A/G] NM_207316 TMEM207 EXON Missense_T15M exm372443 3 190167564 [A/G] NM_207316 TMEM207 EXON Missense_A12V exm-rs7642497 3 190207425 [T/G] exm-rs9290936 3 190252635 [T/G] NM_001167931,NM_002182,NM_001167930,NM_001167928,NM_134470,NM_001167929 IL1RAP,IL1RAP,IL1RAP,IL1RAP,IL1RAP,IL1RAP Silent,Silent,Silent,Silent,Silent,Silent exm372452 3 190321918 [A/G] NM_001167931,NM_002182,NM_001167930,NM_001167928,NM_134470,NM_001167929 IL1RAP,IL1RAP,IL1RAP,IL1RAP,IL1RAP,IL1RAP EXON Synonymous_E22E,Synonymous_E22E,Synonymous_E22E,Synonymous_E22E,Synonymous_E22E,Synonymous_E22E exm372454 3 190321920 [A/G] NM_001167931,NM_002182,NM_001167930,NM_001167928,NM_134470,NM_001167929 IL1RAP,IL1RAP,IL1RAP,IL1RAP,IL1RAP,IL1RAP EXON Missense_R23H,Missense_R23H,Missense_R23H,Missense_R23H,Missense_R23H,Missense_R23H exm2046887 3 190326957 [T/C] NM_001167931,NM_002182,NM_001167930,NM_001167928,NM_134470,NM_001167929 IL1RAP,IL1RAP,IL1RAP,IL1RAP,IL1RAP,IL1RAP EXON Missense_I175T,Missense_I175T,Missense_I175T,Missense_I175T,Missense_I175T,Missense_I175T exm372478 3 190338191 [T/C] NM_001167931,NM_002182,NM_001167930,NM_001167928,NM_134470,NM_001167929 IL1RAP,IL1RAP,IL1RAP,IL1RAP,IL1RAP,IL1RAP EXON Missense_T222M,Missense_T222M,Missense_T222M,Missense_T222M,Missense_T222M,Missense_T222M exm372483 3 190345165 [T/C] NM_001167931,NM_002182,NM_001167930,NM_001167928,NM_134470,NM_001167929 IL1RAP,IL1RAP,IL1RAP,IL1RAP,IL1RAP,IL1RAP EXON Missense_R277C,Missense_R277C,Missense_R277C,Missense_R277C,Missense_R277C,Missense_R277C exm-rs7626795 3 190350461 [A/G] NM_001167931,NM_002182,NM_001167928,NM_001167929 IL1RAP,IL1RAP,IL1RAP,IL1RAP Silent,Silent,Silent,Silent exm372513 3 190366198 [A/G] NM_001167931,NM_002182,NM_001167928,NM_001167929 IL1RAP,IL1RAP,IL1RAP,IL1RAP EXON Silent,Missense_V473M,Missense_V473M,Missense_V473M exm372520 3 190366388 [G/C] NM_001167931,NM_002182,NM_001167928,NM_001167929 IL1RAP,IL1RAP,IL1RAP,IL1RAP EXON Silent,Missense_G536A,Missense_G536A,Missense_G536A exm372539 3 190374214 [T/C] NM_001167931 IL1RAP EXON Missense_R628W exm372540 3 190374230 [A/G] NM_001167931 IL1RAP EXON Missense_N633S exm2265543 3 190480177 [A/G] exm372548 3 190573340 [G/C] NM_001146686 GMNC EXON Missense_T250R exm372549 3 190573374 [G/C] NM_001146686 GMNC EXON Missense_E239Q exm372559 3 190573619 [A/G] NM_001146686 GMNC EXON Missense_P157L exm2046919 3 190575660 [A/T] NM_001146686 GMNC EXON Missense_E99V exm372568 3 190578566 [A/G] NM_001146686 GMNC EXON Missense_S29P exm372578 3 190936557 [T/G] NM_198184 OSTN EXON Missense_D42Y exm2269700 3 190965653 [T/C] NM_198184 OSTN Silent exm372588 3 190967888 [A/G] NM_198184 OSTN EXON Missense_R127Q exm372596 3 190993043 [T/C] NM_198152 UTS2D EXON Missense_R111Q exm372597 3 190993044 [A/G] NM_198152 UTS2D EXON Nonsense_R111X exm2239094 3 190993088 [A/G] NM_198152 UTS2D EXON Missense_T96M exm372608 3 190999876 [T/C] NM_198152 UTS2D EXON Missense_G35R exm372609 3 190999897 [A/C] NM_198152 UTS2D EXON Nonsense_G28X exm-rs10937470 3 191000808 [T/C] NM_198152 UTS2D Silent exm372627 3 191075901 [A/G] NM_174908,NM_178335 CCDC50,CCDC50 EXON Missense_R76H,Missense_R76H exm372632 3 191087740 [A/T] NM_174908,NM_178335 CCDC50,CCDC50 EXON Missense_L121F,Missense_L121F exm372641 3 191093019 [T/C] NM_174908,NM_178335 CCDC50,CCDC50 EXON Silent,Missense_S206F exm372642 3 191093028 [T/C] NM_174908,NM_178335 CCDC50,CCDC50 EXON Silent,Missense_S209L exm372659 3 191093285 [T/G] NM_174908,NM_178335 CCDC50,CCDC50 EXON Silent,Missense_D295Y exm372660 3 191093310 [A/G] NM_174908,NM_178335 CCDC50,CCDC50 EXON Silent,Missense_K303R exm372670 3 191097966 [T/C] NM_174908,NM_178335 CCDC50,CCDC50 EXON Missense_M156T,Missense_M332T exm372680 3 191098623 [A/G] NM_174908,NM_178335 CCDC50,CCDC50 EXON Missense_A206T,Missense_A382T exm372681 3 191098660 [A/G] NM_174908,NM_178335 CCDC50,CCDC50 EXON Missense_K218R,Missense_K394R exm372689 3 191100568 [A/G] NM_174908,NM_178335 CCDC50,CCDC50 EXON Missense_K250E,Missense_K426E exm372695 3 191107358 [T/C] NM_174908,NM_178335 CCDC50,CCDC50 EXON Missense_R290W,Missense_R466W exm2255896 3 191114266 [T/C] NM_174908,NM_178335 CCDC50,CCDC50 EXON Silent,Silent exm372705 3 191178962 [A/C] NM_001083308 PYDC2 EXON Missense_S4Y exm2255897 3 191178963 [T/G] NM_001083308 PYDC2 EXON Synonymous_S4S exm372717 3 191179177 [T/G] NM_001083308 PYDC2 EXON Missense_F76V exm372718 3 191179193 [A/G] NM_001083308 PYDC2 EXON Missense_Q81R exm2265544 3 191412597 [A/G] exm-rs7635839 3 191667777 [A/G] exm2239097 3 191861915 [T/C] NM_004113,NM_021032 FGF12,FGF12 EXON Synonymous_V143V,Synonymous_V205V exm-rs975121 3 191897218 [A/G] NM_004113,NM_021032 FGF12,FGF12 Silent,Silent exm2261460 3 192019370 [A/G] NM_004113,NM_021032 FGF12,FGF12 Silent,Silent exm372723 3 192053150 [T/C] NM_004113,NM_021032 FGF12,FGF12 EXON Synonymous_S76S,Synonymous_S138S exm-rs2366659 3 192087751 [T/C] NM_004113,NM_021032 FGF12,FGF12 Silent,Silent exm-rs4453795 3 192093975 [A/G] NM_004113,NM_021032 FGF12,FGF12 Silent,Silent exm2265545 3 192125768 [A/G] NM_004113,NM_021032 FGF12,FGF12 Silent,Silent exm2265546 3 192312270 [A/G] NM_004113 FGF12 Silent exm2261461 3 192497035 [A/G] exm2046978 3 192516315 [C/G] NM_178496 MB21D2 EXON Missense_D446H exm372746 3 192516317 [T/C] NM_178496 MB21D2 EXON Missense_G445E exm372747 3 192516321 [T/C] NM_178496 MB21D2 EXON Missense_G444R exm372752 3 192516377 [A/G] NM_178496 MB21D2 EXON Missense_T425I exm372774 3 192516963 [A/G] NM_178496 MB21D2 EXON Missense_R230C exm372779 3 192517085 [T/C] NM_178496 MB21D2 EXON Missense_Y189C exm372780 3 192517087 [C/G] NM_178496 MB21D2 EXON Missense_F188L exm372782 3 192517142 [T/C] NM_178496 MB21D2 EXON Missense_H170R exm2046988 3 192517421 [T/C] NM_178496 MB21D2 EXON Missense_D77G exm372816 3 192973579 [A/G] NM_020386 HRASLS Silent exm372818 3 192980771 [T/C] NM_020386 HRASLS EXON Missense_A156V exm2255901 3 192980772 [A/G] NM_020386 HRASLS EXON Synonymous_A156A exm372822 3 192980785 [A/G] NM_020386 HRASLS EXON Missense_A161T exm2239100 3 192980885 [T/C] NM_020386 HRASLS EXON Missense_T194M exm2047009 3 192981010 [A/G] NM_020386 HRASLS EXON Missense_G236R exm2265547 3 192984366 [A/G] NM_020386 HRASLS Silent exm2047012 3 192988399 [T/C] NM_020386 HRASLS EXON Nonsense_R243X exm372836 3 192988414 [A/G] NM_020386 HRASLS EXON Missense_V248I exm372844 3 192992920 [T/C] NM_198505 ATP13A5 EXON Missense_G1190R exm372848 3 192992987 [G/C] NM_198505 ATP13A5 EXON Missense_D1167E exm2239101 3 192993027 [T/C] NM_198505 ATP13A5 EXON Missense_K1154R exm372851 3 192994543 [A/G] NM_198505 ATP13A5 EXON Missense_V1131A exm372856 3 192997165 [T/C] NM_198505 ATP13A5 EXON Missense_R1102H exm372861 3 193002772 [T/C] NM_198505 ATP13A5 EXON Missense_I1053V exm372867 3 193002884 [T/G] NM_198505 ATP13A5 EXON Missense_Q1015H exm372868 3 193007713 [T/A] NM_198505 ATP13A5 EXON Missense_V995E exm372876 3 193016956 [T/G] NM_198505 ATP13A5 EXON Missense_Q938K exm372877 3 193019038 [T/C] NM_198505 ATP13A5 EXON Missense_G913S exm372880 3 193019046 [A/G] NM_198505 ATP13A5 EXON Missense_T910I exm372899 3 193029725 [G/C] NM_198505 ATP13A5 EXON Missense_I775M exm372900 3 193031875 [T/C] NM_198505 ATP13A5 EXON Missense_A756T exm372901 3 193031899 [T/C] NM_198505 ATP13A5 EXON Missense_D748N exm372905 3 193032785 [A/G] NM_198505 ATP13A5 EXON Missense_R712C exm372906 3 193032832 [T/C] NM_198505 ATP13A5 EXON Missense_R696H exm372907 3 193032833 [A/G] NM_198505 ATP13A5 EXON Missense_R696C exm2047047 3 193032838 [A/T] NM_198505 ATP13A5 EXON Missense_E694V exm372910 3 193036783 [A/G] NM_198505 ATP13A5 EXON Missense_A677V exm372925 3 193036894 [A/G] NM_198505 ATP13A5 EXON Missense_P640L exm372926 3 193036896 [T/C] NM_198505 ATP13A5 EXON Synonymous_V639V exm372927 3 193039551 [A/G] NM_198505 ATP13A5 EXON Nonsense_Q612X exm372928 3 193039554 [T/C] NM_198505 ATP13A5 EXON Missense_A611T exm2047059 3 193042718 [T/C] NM_198505 ATP13A5 EXON Missense_I537V exm372953 3 193044812 [T/C] NM_198505 ATP13A5 EXON Nonsense_W499X exm2273988 3 193048974 [A/C] NM_198505 ATP13A5 EXON Missense_F467V exm372962 3 193049055 [T/C] NM_198505 ATP13A5 EXON Missense_V440M exm372974 3 193052739 [A/G] NM_198505 ATP13A5 EXON Nonsense_R365X exm372975 3 193052769 [A/G] NM_198505 ATP13A5 EXON Nonsense_Q355X exm372978 3 193052802 [T/C] NM_198505 ATP13A5 EXON Missense_K344E exm372980 3 193052829 [T/C] NM_198505 ATP13A5 EXON Missense_K335E exm372984 3 193061741 [G/C] NM_198505 ATP13A5 EXON Missense_C306W exm372986 3 193061772 [A/G] NM_198505 ATP13A5 EXON Missense_P296L exm372988 3 193061809 [T/C] NM_198505 ATP13A5 EXON Missense_G284R exm372995 3 193068861 [A/G] NM_198505 ATP13A5 EXON Nonsense_R246X exm373001 3 193071964 [T/G] NM_198505 ATP13A5 EXON Missense_N186K exm373009 3 193080356 [C/G] NM_198505 ATP13A5 EXON Missense_G152A exm373010 3 193080372 [A/G] NM_198505 ATP13A5 EXON Missense_R147W exm373011 3 193080383 [T/G] NM_198505 ATP13A5 EXON Missense_D143A exm373014 3 193080417 [T/G] NM_198505 ATP13A5 EXON Missense_M132L exm373022 3 193081090 [T/C] NM_198505 ATP13A5 EXON Missense_E107K exm2047086 3 193081095 [T/C] NM_198505 ATP13A5 EXON Missense_K105R exm373025 3 193081122 [T/G] NM_198505 ATP13A5 EXON Missense_S96Y exm373039 3 193082012 [T/C] NM_198505 ATP13A5 EXON Missense_V41M exm373040 3 193082038 [T/C] NM_198505 ATP13A5 EXON Missense_R32Q exm373060 3 193120535 [A/G] NM_032279 ATP13A4 EXON Missense_P1166L exm373082 3 193130054 [T/C] NM_032279 ATP13A4 EXON Missense_V1041I exm373083 3 193130069 [A/G] NM_032279 ATP13A4 EXON Missense_F1036L exm373091 3 193132381 [T/C] NM_032279 ATP13A4 EXON Missense_V1001M exm373101 3 193132522 [A/G] NM_032279 ATP13A4 EXON Missense_Y954H exm2239105 3 193151636 [T/G] NM_032279 ATP13A4 EXON Missense_T947K exm373104 3 193151645 [A/G] NM_032279 ATP13A4 EXON Missense_I944T exm373126 3 193159357 [A/C] NM_032279 ATP13A4 EXON Missense_R779S exm373135 3 193166028 [T/C] NM_032279 ATP13A4 EXON Missense_I707V exm373144 3 193171965 [A/G] NM_032279 ATP13A4 EXON Missense_T651M exm373145 3 193171979 [T/A] NM_032279 ATP13A4 EXON Missense_E646D exm373146 3 193171996 [T/C] NM_032279 ATP13A4 EXON Missense_T641A exm373149 3 193174817 [A/C] NM_032279 ATP13A4 EXON Missense_R629S exm373155 3 193175184 [G/C] NM_032279 ATP13A4 EXON Missense_C582S exm373156 3 193175200 [T/C] NM_032279 ATP13A4 EXON Missense_M577V exm373174 3 193182733 [T/A] NM_032279 ATP13A4 EXON Missense_D486V exm373181 3 193182868 [A/G] NM_032279 ATP13A4 EXON Missense_A441V exm373195 3 193185125 [T/C] NM_032279 ATP13A4 EXON Missense_R365K exm373196 3 193185128 [A/G] NM_032279 ATP13A4 EXON Missense_V364A exm373204 3 193185248 [A/G] NM_032279 ATP13A4 EXON Missense_P324L exm373224 3 193209140 [A/G] NM_032279 ATP13A4 EXON Missense_I194T exm373226 3 193209178 [T/C] NM_032279 ATP13A4 EXON Missense_I181M exm373229 3 193210749 [T/G] NM_032279 ATP13A4 EXON Missense_Q164K exm2239107 3 193210755 [T/C] NM_032279 ATP13A4 EXON Missense_I162V exm373233 3 193210924 [A/G] NM_032279 ATP13A4 EXON Missense_I136T exm373237 3 193220428 [T/C] NM_032279 ATP13A4 EXON Missense_D79N exm2265548 3 193221230 [A/G] NM_032279 ATP13A4 Silent exm373238 3 193232488 [A/G] NM_032279 ATP13A4 EXON Missense_T78M exm373241 3 193232539 [T/C] NM_032279 ATP13A4 EXON Missense_H61R exm373253 3 193272561 [T/C] NM_032279 ATP13A4 EXON Missense_A10T exm373264 3 193332522 [A/C] NM_130837,NM_130831,NM_015560,NM_130833,NM_130835,NM_130836,NM_130832,NM_130834 OPA1,OPA1,OPA1,OPA1,OPA1,OPA1,OPA1,OPA1 EXON Missense_Q15K,Missense_Q15K,Missense_Q15K,Missense_Q15K,Missense_Q15K,Missense_Q15K,Missense_Q15K,Missense_Q15K exm373266 3 193332549 [A/G] NM_130837,NM_130831,NM_015560,NM_130833,NM_130835,NM_130836,NM_130832,NM_130834 OPA1,OPA1,OPA1,OPA1,OPA1,OPA1,OPA1,OPA1 EXON Missense_I24V,Missense_I24V,Missense_I24V,Missense_I24V,Missense_I24V,Missense_I24V,Missense_I24V,Missense_I24V exm373267 3 193332564 [C/G] NM_130837,NM_130831,NM_015560,NM_130833,NM_130835,NM_130836,NM_130832,NM_130834 OPA1,OPA1,OPA1,OPA1,OPA1,OPA1,OPA1,OPA1 EXON Missense_P29A,Missense_P29A,Missense_P29A,Missense_P29A,Missense_P29A,Missense_P29A,Missense_P29A,Missense_P29A exm373275 3 193332718 [A/G] NM_130837,NM_130831,NM_015560,NM_130833,NM_130835,NM_130836,NM_130832,NM_130834 OPA1,OPA1,OPA1,OPA1,OPA1,OPA1,OPA1,OPA1 EXON Missense_Y80C,Missense_Y80C,Missense_Y80C,Missense_Y80C,Missense_Y80C,Missense_Y80C,Missense_Y80C,Missense_Y80C exm373276 3 193332725 [A/C] NM_130837,NM_130831,NM_015560,NM_130833,NM_130835,NM_130836,NM_130832,NM_130834 OPA1,OPA1,OPA1,OPA1,OPA1,OPA1,OPA1,OPA1 EXON Nonsense_Y82X,Nonsense_Y82X,Nonsense_Y82X,Nonsense_Y82X,Nonsense_Y82X,Nonsense_Y82X,Nonsense_Y82X,Nonsense_Y82X exm373277 3 193332733 [A/G] NM_130837,NM_130831,NM_015560,NM_130833,NM_130835,NM_130836,NM_130832,NM_130834 OPA1,OPA1,OPA1,OPA1,OPA1,OPA1,OPA1,OPA1 EXON Missense_R85H,Missense_R85H,Missense_R85H,Missense_R85H,Missense_R85H,Missense_R85H,Missense_R85H,Missense_R85H exm373278 3 193332763 [T/C] NM_130837,NM_130831,NM_015560,NM_130833,NM_130835,NM_130836,NM_130832,NM_130834 OPA1,OPA1,OPA1,OPA1,OPA1,OPA1,OPA1,OPA1 EXON Missense_T95M,Missense_T95M,Missense_T95M,Missense_T95M,Missense_T95M,Missense_T95M,Missense_T95M,Missense_T95M exm373286 3 193332823 [T/C] NM_130837,NM_130831,NM_015560,NM_130833,NM_130835,NM_130836,NM_130832,NM_130834 OPA1,OPA1,OPA1,OPA1,OPA1,OPA1,OPA1,OPA1 EXON Missense_A115V,Missense_A115V,Missense_A115V,Missense_A115V,Missense_A115V,Missense_A115V,Missense_A115V,Missense_A115V exm373290 3 193334991 [A/G] NM_130837,NM_130831,NM_015560,NM_130833,NM_130835,NM_130836,NM_130832,NM_130834 OPA1,OPA1,OPA1,OPA1,OPA1,OPA1,OPA1,OPA1 EXON Missense_S158N,Silent,Missense_S158N,Silent,Silent,Missense_S158N,Silent,Missense_S158N exm373291 3 193335048 [T/G] NM_130837,NM_130831,NM_015560,NM_130833,NM_130835,NM_130836,NM_130832,NM_130834 OPA1,OPA1,OPA1,OPA1,OPA1,OPA1,OPA1,OPA1 EXON Missense_S177I,Silent,Missense_S177I,Silent,Silent,Missense_S177I,Silent,Missense_S177I exm373300 3 193336676 [T/C] NM_130837,NM_130831,NM_015560,NM_130833,NM_130835,NM_130836,NM_130832,NM_130834,NR_046634 OPA1,OPA1,OPA1,OPA1,OPA1,OPA1,OPA1,OPA1,OPA1-AS1 EXON Missense_A210V,Missense_A156V,Missense_A192V,Missense_A156V,Missense_A174V,Missense_A192V,Missense_A174V,Missense_A210V,Silent exm373301 3 193336700 [T/C] NM_130837,NM_130831,NM_015560,NM_130833,NM_130835,NM_130836,NM_130832,NM_130834,NR_046634 OPA1,OPA1,OPA1,OPA1,OPA1,OPA1,OPA1,OPA1,OPA1-AS1 EXON Missense_S218F,Missense_S164F,Missense_S200F,Missense_S164F,Missense_S182F,Missense_S200F,Missense_S182F,Missense_S218F,Silent exm373307 3 193343950 [A/G] NM_130837,NM_130831,NM_015560,NM_130833,NM_130835,NM_130836,NM_130832,NM_130834,NR_046634 OPA1,OPA1,OPA1,OPA1,OPA1,OPA1,OPA1,OPA1,OPA1-AS1 EXON Missense_A250T,Silent,Silent,Missense_A196T,Missense_A214T,Missense_A232T,Silent,Silent,Silent exm373310 3 193349441 [T/C] NM_130837,NM_130831,NM_015560,NM_130833,NM_130835,NM_130836,NM_130832,NM_130834 OPA1,OPA1,OPA1,OPA1,OPA1,OPA1,OPA1,OPA1 EXON Missense_L277P,Missense_L186P,Missense_L222P,Missense_L223P,Missense_L241P,Missense_L259P,Missense_L204P,Missense_L240P exm373329 3 193361167 [A/G] NM_130837,NM_130831,NM_015560,NM_130833,NM_130835,NM_130836,NM_130832,NM_130834 OPA1,OPA1,OPA1,OPA1,OPA1,OPA1,OPA1,OPA1 EXON Missense_I437M,Missense_I346M,Missense_I382M,Missense_I383M,Missense_I401M,Missense_I419M,Missense_I364M,Missense_I400M exm373336 3 193363535 [T/C] NM_130837,NM_130831,NM_015560,NM_130833,NM_130835,NM_130836,NM_130832,NM_130834 OPA1,OPA1,OPA1,OPA1,OPA1,OPA1,OPA1,OPA1 EXON Missense_I567T,Missense_I476T,Missense_I512T,Missense_I513T,Missense_I531T,Missense_I549T,Missense_I494T,Missense_I530T exm373343 3 193365865 [A/G] NM_130837,NM_130831,NM_015560,NM_130833,NM_130835,NM_130836,NM_130832,NM_130834 OPA1,OPA1,OPA1,OPA1,OPA1,OPA1,OPA1,OPA1 EXON Missense_R626H,Missense_R535H,Missense_R571H,Missense_R572H,Missense_R590H,Missense_R608H,Missense_R553H,Missense_R589H exm373351 3 193366644 [A/G] NM_130837,NM_130831,NM_015560,NM_130833,NM_130835,NM_130836,NM_130832,NM_130834 OPA1,OPA1,OPA1,OPA1,OPA1,OPA1,OPA1,OPA1 EXON Missense_V666I,Missense_V575I,Missense_V611I,Missense_V612I,Missense_V630I,Missense_V648I,Missense_V593I,Missense_V629I exm373366 3 193376735 [T/G] NM_130837,NM_130831,NM_015560,NM_130833,NM_130835,NM_130836,NM_130832,NM_130834 OPA1,OPA1,OPA1,OPA1,OPA1,OPA1,OPA1,OPA1 EXON Missense_D797E,Missense_D706E,Missense_D742E,Missense_D743E,Missense_D761E,Missense_D779E,Missense_D724E,Missense_D760E exm373371 3 193377336 [T/C] NM_130837,NM_130831,NM_015560,NM_130833,NM_130835,NM_130836,NM_130832,NM_130834 OPA1,OPA1,OPA1,OPA1,OPA1,OPA1,OPA1,OPA1 EXON Missense_R836W,Missense_R745W,Missense_R781W,Missense_R782W,Missense_R800W,Missense_R818W,Missense_R763W,Missense_R799W exm2261463 3 193711182 [A/G] NR_033944,NR_027764 LOC647323,DPPA2P3 EXON Silent,Silent exm2269594 3 193766273 [T/C] exm2255904 3 193855650 [A/G] NM_005524 HES1 EXON Synonymous_G157G exm373437 3 193855858 [A/G] NM_005524 HES1 EXON Missense_G227S exm2261464 3 194027568 [A/G] NR_024480 LOC100131551 Silent exm373445 3 194061810 [A/C] NM_001080513 CPN2 EXON Missense_R541L exm373447 3 194061819 [A/G] NM_001080513 CPN2 EXON Missense_I538T exm373448 3 194061826 [T/C] NM_001080513 CPN2 EXON Missense_V536M exm373451 3 194061850 [T/C] NM_001080513 CPN2 EXON Missense_S528G exm373458 3 194061922 [T/C] NM_001080513 CPN2 EXON Missense_V504I exm373461 3 194061955 [T/C] NM_001080513 CPN2 EXON Missense_A493T exm373463 3 194061995 [C/G] NM_001080513 CPN2 EXON Missense_S479R exm373465 3 194062035 [T/C] NM_001080513 CPN2 EXON Missense_G466D exm373469 3 194062087 [A/G] NM_001080513 CPN2 EXON Missense_R449W exm373477 3 194062185 [T/C] NM_001080513 CPN2 EXON Missense_R416Q exm373490 3 194062519 [T/C] NM_001080513 CPN2 EXON Missense_A305T exm373498 3 194062668 [T/G] NM_001080513 CPN2 EXON Missense_H255P exm373500 3 194062675 [T/C] NM_001080513 CPN2 EXON Missense_I253V exm373501 3 194062677 [A/G] NM_001080513 CPN2 EXON Missense_A252V exm373512 3 194062821 [A/G] NM_001080513 CPN2 EXON Missense_A204V exm373523 3 194063040 [T/A] NM_001080513 CPN2 EXON Missense_N131I exm373529 3 194063166 [T/C] NM_001080513 CPN2 EXON Missense_R89K exm373532 3 194063253 [A/G] NM_001080513 CPN2 EXON Missense_S60L exm373534 3 194063280 [A/G] NM_001080513 CPN2 EXON Missense_T51M exm373539 3 194063344 [T/C] NM_001080513 CPN2 EXON Missense_V30I exm373556 3 194080125 [T/C] NM_130830,NM_001135057 LRRC15,LRRC15 EXON Missense_A550T,Missense_A556T exm2047264 3 194080162 [A/G] NM_130830,NM_001135057 LRRC15,LRRC15 EXON Synonymous_S537S,Synonymous_S543S exm373569 3 194080324 [A/T] NM_130830,NM_001135057 LRRC15,LRRC15 EXON Missense_S483R,Missense_S489R exm373570 3 194080335 [T/C] NM_130830,NM_001135057 LRRC15,LRRC15 EXON Missense_E480K,Missense_E486K exm373573 3 194080362 [T/C] NM_130830,NM_001135057 LRRC15,LRRC15 EXON Missense_V471I,Missense_V477I exm373577 3 194080395 [A/G] NM_130830,NM_001135057 LRRC15,LRRC15 EXON Nonsense_R460X,Nonsense_R466X exm373580 3 194080469 [T/C] NM_130830,NM_001135057 LRRC15,LRRC15 EXON Missense_R435H,Missense_R441H exm373584 3 194080545 [T/C] NM_130830,NM_001135057 LRRC15,LRRC15 EXON Missense_D410N,Missense_D416N exm373606 3 194080824 [A/G] NM_130830,NM_001135057 LRRC15,LRRC15 EXON Missense_R317C,Missense_R323C exm373621 3 194081159 [T/C] NM_130830,NM_001135057 LRRC15,LRRC15 EXON Missense_Y205C,Missense_Y211C exm373634 3 194081348 [A/G] NM_130830,NM_001135057 LRRC15,LRRC15 EXON Missense_P142L,Missense_P148L exm373639 3 194081406 [A/C] NM_130830,NM_001135057 LRRC15,LRRC15 EXON Missense_G123C,Missense_G129C exm373647 3 194081480 [T/C] NM_130830,NM_001135057 LRRC15,LRRC15 EXON Missense_R98Q,Missense_R104Q exm373648 3 194081501 [C/G] NM_130830,NM_001135057 LRRC15,LRRC15 EXON Missense_R91P,Missense_R97P exm373650 3 194081525 [T/C] NM_130830,NM_001135057 LRRC15,LRRC15 EXON Missense_R83K,Missense_R89K exm373651 3 194081532 [T/C] NM_130830,NM_001135057 LRRC15,LRRC15 EXON Missense_A81T,Missense_A87T exm373668 3 194081753 [T/A] NM_130830,NM_001135057 LRRC15,LRRC15 EXON Missense_L7H,Missense_L13H exm373682 3 194117448 [T/A] NM_004488 GP5 EXON Missense_W522R exm373697 3 194117723 [T/C] NM_004488 GP5 EXON Missense_G430E exm373722 3 194118357 [T/C] NM_004488 GP5 EXON Missense_A219T exm373728 3 194118624 [A/C] NM_004488 GP5 EXON Missense_D130Y exm373732 3 194118741 [G/C] NM_004488 GP5 EXON Missense_P91A exm2255907 3 194118946 [T/C] NM_004488 GP5 EXON Synonymous_P22P exm373748 3 194126767 [T/C] NM_024524 ATP13A3 EXON Missense_M1188V exm373753 3 194134567 [A/G] NM_024524 ATP13A3 EXON Missense_I1135T exm373760 3 194146248 [T/C] NM_024524 ATP13A3 EXON Missense_T1046A exm373761 3 194147807 [A/G] NM_024524 ATP13A3 EXON Missense_S1041L exm373764 3 194147859 [T/C] NM_024524 ATP13A3 EXON Missense_G1024S exm373765 3 194147873 [C/G] NM_024524 ATP13A3 EXON Missense_G1019A exm373766 3 194147888 [A/C] NM_024524 ATP13A3 EXON Missense_I1014S exm373772 3 194150823 [A/C] NM_024524 ATP13A3 EXON Missense_S919A exm373790 3 194154513 [T/C] NM_024524 ATP13A3 EXON Missense_V745I exm373791 3 194154524 [T/C] NM_024524 ATP13A3 EXON Missense_N741S exm373809 3 194159638 [A/G] NM_024524 ATP13A3 EXON Missense_R592C exm373832 3 194175025 [T/C] NM_024524 ATP13A3 EXON Missense_I243V exm373850 3 194180664 [T/C] NM_024524 ATP13A3 EXON Missense_V88I exm373851 3 194180666 [T/C] NM_024524 ATP13A3 EXON Missense_R87H exm373859 3 194181527 [A/G] NM_024524 ATP13A3 EXON Missense_L29F exm373861 3 194181542 [A/C] NM_024524 ATP13A3 EXON Missense_L24V exm2239118 3 194188614 [G/C] NM_024524 ATP13A3 EXON Silent exm373868 3 194309276 [G/C] NR_047575,NR_047573,NR_047574,NM_001011655,NM_138399,NM_001166305,NM_001166306 TMEM44-AS1,TMEM44-AS1,TMEM44-AS1,TMEM44,TMEM44,TMEM44,TMEM44 EXON Silent,Silent,Silent,Missense_H423Q,Missense_H433Q,Missense_H470Q,Silent exm373873 3 194313800 [T/C] NM_001011655,NM_138399,NM_001166305,NM_001166306 TMEM44,TMEM44,TMEM44,TMEM44 Silent,Silent,Silent,Silent exm373881 3 194325055 [A/G] NM_001011655,NM_138399,NM_001166305,NM_001166306 TMEM44,TMEM44,TMEM44,TMEM44 EXON Synonymous_G379G,Synonymous_G379G,Synonymous_G426G,Missense_A378V exm373882 3 194325057 [T/C] NM_001011655,NM_138399,NM_001166305,NM_001166306 TMEM44,TMEM44,TMEM44,TMEM44 EXON Missense_G379S,Missense_G379S,Missense_G426S,Synonymous_P377P exm373883 3 194325058 [A/G] NM_001011655,NM_138399,NM_001166305,NM_001166306 TMEM44,TMEM44,TMEM44,TMEM44 EXON Synonymous_S378S,Synonymous_S378S,Synonymous_S425S,Missense_P377L exm373884 3 194325068 [T/C] NM_001011655,NM_138399,NM_001166305,NM_001166306 TMEM44,TMEM44,TMEM44,TMEM44 EXON Missense_R375Q,Missense_R375Q,Missense_R422Q,Missense_G374R exm373886 3 194325075 [A/G] NM_001011655,NM_138399,NM_001166305,NM_001166306 TMEM44,TMEM44,TMEM44,TMEM44 EXON Missense_R373W,Missense_R373W,Missense_R420W,Synonymous_S371S exm373887 3 194325080 [A/G] NM_001011655,NM_138399,NM_001166305,NM_001166306 TMEM44,TMEM44,TMEM44,TMEM44 EXON Missense_V371A,Missense_V371A,Missense_V418A,Missense_S370P exm373888 3 194325087 [T/C] NM_001011655,NM_138399,NM_001166305,NM_001166306 TMEM44,TMEM44,TMEM44,TMEM44 EXON Missense_V369I,Missense_V369I,Missense_V416I,Synonymous_P367P exm373889 3 194325101 [A/G] NM_001011655,NM_138399,NM_001166305,NM_001166306 TMEM44,TMEM44,TMEM44,TMEM44 EXON Missense_P364L,Missense_P364L,Missense_P411L,Missense_R363C exm373893 3 194325142 [A/G] NM_001011655,NM_138399,NM_001166305,NM_001166306 TMEM44,TMEM44,TMEM44,TMEM44 EXON Synonymous_D350D,Synonymous_D350D,Synonymous_D397D,Missense_T349M exm-rs789852 3 194327098 [T/C] NM_001011655,NM_138399,NM_001166305,NM_001166306 TMEM44,TMEM44,TMEM44,TMEM44 Silent,Silent,Silent,Silent exm373894 3 194331646 [T/C] NM_001011655,NM_138399,NM_001166305,NM_001166306 TMEM44,TMEM44,TMEM44,TMEM44 EXON Missense_Q339R,Missense_Q339R,Missense_Q386R,Missense_Q339R exm373904 3 194337833 [C/G] NM_001011655,NM_138399,NM_001166305,NM_001166306 TMEM44,TMEM44,TMEM44,TMEM44 EXON Missense_L260V,Missense_L260V,Missense_L307V,Missense_L260V exm373905 3 194337848 [A/G] NM_001011655,NM_138399,NM_001166305,NM_001166306 TMEM44,TMEM44,TMEM44,TMEM44 EXON Missense_R255C,Missense_R255C,Missense_R302C,Missense_R255C exm373906 3 194337851 [T/C] NM_001011655,NM_138399,NM_001166305,NM_001166306 TMEM44,TMEM44,TMEM44,TMEM44 EXON Missense_G254S,Missense_G254S,Missense_G301S,Missense_G254S exm373909 3 194337905 [T/C] NM_001011655,NM_138399,NM_001166305,NM_001166306 TMEM44,TMEM44,TMEM44,TMEM44 EXON Missense_D236N,Missense_D236N,Missense_D283N,Missense_D236N exm373911 3 194337922 [A/G] NM_001011655,NM_138399,NM_001166305,NM_001166306 TMEM44,TMEM44,TMEM44,TMEM44 EXON Missense_S230L,Missense_S230L,Missense_S277L,Missense_S230L exm373912 3 194337949 [A/G] NM_001011655,NM_138399,NM_001166305,NM_001166306 TMEM44,TMEM44,TMEM44,TMEM44 EXON Missense_S221L,Missense_S221L,Missense_S268L,Missense_S221L exm373918 3 194338399 [A/G] NM_001011655,NM_138399,NM_001166305,NM_001166306 TMEM44,TMEM44,TMEM44,TMEM44 EXON Silent,Silent,Missense_A240V,Silent exm373919 3 194338423 [T/C] NM_001011655,NM_138399,NM_001166305,NM_001166306 TMEM44,TMEM44,TMEM44,TMEM44 EXON Silent,Silent,Missense_R232H,Silent exm373921 3 194338475 [A/G] NM_001011655,NM_138399,NM_001166305,NM_001166306 TMEM44,TMEM44,TMEM44,TMEM44 EXON Silent,Silent,Nonsense_Q215X,Silent exm373929 3 194344017 [T/C] NM_001011655,NM_138399,NM_001166305,NM_001166306 TMEM44,TMEM44,TMEM44,TMEM44 EXON Missense_Y183C,Missense_Y183C,Missense_Y183C,Missense_Y183C exm373934 3 194344307 [A/G] NM_001011655,NM_138399,NM_001166305,NM_001166306 TMEM44,TMEM44,TMEM44,TMEM44 EXON Missense_S159L,Missense_S159L,Missense_S159L,Missense_S159L exm2255909 3 194344357 [T/C] NM_001011655,NM_138399,NM_001166305,NM_001166306 TMEM44,TMEM44,TMEM44,TMEM44 EXON Synonymous_P142P,Synonymous_P142P,Synonymous_P142P,Synonymous_P142P exm373945 3 194344395 [A/G] NM_001011655,NM_138399,NM_001166305,NM_001166306 TMEM44,TMEM44,TMEM44,TMEM44 EXON Missense_R130W,Missense_R130W,Missense_R130W,Missense_R130W exm373947 3 194344421 [T/C] NM_001011655,NM_138399,NM_001166305,NM_001166306 TMEM44,TMEM44,TMEM44,TMEM44 EXON Missense_R121Q,Missense_R121Q,Missense_R121Q,Missense_R121Q exm373954 3 194346704 [A/G] NM_001011655,NM_138399,NM_001166305,NM_001166306 TMEM44,TMEM44,TMEM44,TMEM44 EXON Missense_Y94H,Missense_Y94H,Missense_Y94H,Missense_Y94H exm373966 3 194353875 [T/G] NM_001011655,NM_138399,NM_001166305,NM_001166306 TMEM44,TMEM44,TMEM44,TMEM44 EXON Missense_H24N,Missense_H24N,Missense_H24N,Missense_H24N exm373967 3 194353889 [A/C] NM_001011655,NM_138399,NM_001166305,NM_001166306 TMEM44,TMEM44,TMEM44,TMEM44 EXON Missense_R19L,Missense_R19L,Missense_R19L,Missense_R19L exm373973 3 194362826 [A/G] NM_018385 LSG1 EXON Missense_R650C exm373978 3 194362876 [A/G] NM_018385 LSG1 EXON Missense_A633V exm373988 3 194365360 [T/C] NM_018385 LSG1 EXON Missense_G580D exm373990 3 194365409 [A/G] NM_018385 LSG1 EXON Nonsense_R564X exm373999 3 194366951 [A/G] NM_018385 LSG1 EXON Missense_A522V exm374016 3 194371747 [A/G] NM_018385 LSG1 EXON Missense_Y428H exm374018 3 194371881 [G/C] NM_018385 LSG1 EXON Missense_S413C exm374022 3 194371938 [T/C] NM_018385 LSG1 EXON Missense_Y394C exm374027 3 194373468 [A/G] NM_018385 LSG1 EXON Missense_T388M exm374029 3 194373577 [A/G] NM_018385 LSG1 EXON Missense_P352S exm374032 3 194373591 [T/C] NM_018385 LSG1 EXON Missense_R347Q exm374033 3 194373592 [A/G] NM_018385 LSG1 EXON Missense_R347W exm374039 3 194373691 [T/C] NM_018385 LSG1 EXON Missense_E314K exm374041 3 194373711 [T/A] NM_018385 LSG1 EXON Missense_Y307F exm374043 3 194373736 [T/C] NM_018385 LSG1 EXON Missense_T299A exm374045 3 194373747 [T/C] NM_018385 LSG1 EXON Missense_S295N exm374046 3 194373751 [A/G] NM_018385 LSG1 EXON Missense_L294F exm374051 3 194373832 [T/C] NM_018385 LSG1 EXON Missense_K267E exm374054 3 194379708 [A/G] NM_018385 LSG1 EXON Missense_I246T exm374056 3 194379769 [T/C] NM_018385 LSG1 EXON Missense_A226T exm374059 3 194379816 [A/G] NM_018385 LSG1 EXON Missense_L210P exm374061 3 194379839 [T/A] NM_018385 LSG1 EXON Missense_D202E exm374071 3 194386945 [A/G] NM_018385 LSG1 EXON Missense_R141C exm374075 3 194386974 [A/G] NM_018385 LSG1 EXON Missense_A131V exm374077 3 194387016 [C/G] NM_018385 LSG1 EXON Missense_P117R exm374079 3 194387253 [A/G] NM_018385 LSG1 EXON Missense_L92P exm374081 3 194387300 [T/C] NM_018385 LSG1 EXON Synonymous_E76E exm374083 3 194390771 [T/C] NM_018385 LSG1 EXON Missense_T65A exm374084 3 194390824 [T/C] NM_018385 LSG1 EXON Missense_R47H exm374089 3 194392810 [A/G] NM_018385 LSG1 EXON Missense_R28C exm374090 3 194392812 [T/C] NM_018385 LSG1 EXON Missense_H27R exm374091 3 194392834 [A/G] NM_018385 LSG1 EXON Nonsense_Q20X exm2047425 3 194392876 [A/C] NM_018385 LSG1 EXON Missense_A6S exm374117 3 194408302 [T/G] NM_153690 FAM43A EXON Missense_K249N exm374123 3 194408432 [C/G] NM_153690 FAM43A EXON Missense_E293Q exm374125 3 194408444 [A/G] NM_153690 FAM43A EXON Missense_E297K exm374127 3 194408468 [A/G] NM_153690 FAM43A EXON Missense_A305T exm2255910 3 194576166 [T/G] exm-rs3892715 3 194758010 [T/C] exm374142 3 194790454 [A/G] NM_152531 XXYLT1 EXON Missense_P391L exm374153 3 194790601 [C/G] NM_152531 XXYLT1 EXON Missense_P342R exm374160 3 194790650 [T/C] NM_152531 XXYLT1 EXON Missense_G326S exm374162 3 194790665 [T/C] NM_152531 XXYLT1 EXON Missense_K321E exm374163 3 194790668 [T/C] NM_152531 XXYLT1 EXON Missense_D320N exm374166 3 194790688 [A/G] NM_152531 XXYLT1 EXON Missense_A313V exm2255912 3 194790780 [A/G] NM_152531 XXYLT1 EXON Synonymous_P282P exm374178 3 194790799 [C/G] NM_152531 XXYLT1 EXON Missense_R276P exm-rs2131877 3 194858374 [A/G] NM_152531 XXYLT1 Silent exm374273 3 194947512 [T/C] NM_152531 XXYLT1 EXON Missense_S193N exm374275 3 194947557 [A/G] NM_152531 XXYLT1 EXON Missense_T178M exm374276 3 194947586 [G/C] NM_152531 XXYLT1 Silent exm2269701 3 194979407 [T/C] NM_152531 XXYLT1 Silent exm-rs13072883 3 194994754 [A/G] exm374300 3 195012451 [T/C] NM_012287 ACAP2 EXON Missense_V683I exm374308 3 195013094 [T/C] NM_012287 ACAP2 EXON Missense_N618S exm374309 3 195013109 [A/G] NM_012287 ACAP2 EXON Missense_A613V exm374313 3 195013139 [T/C] NM_012287 ACAP2 EXON Missense_H603R exm374315 3 195013145 [A/G] NM_012287 ACAP2 EXON Missense_S601L exm374316 3 195013176 [T/C] NM_012287 ACAP2 EXON Missense_E591K exm374317 3 195015477 [A/G] NM_012287 ACAP2 EXON Missense_T579M exm2047524 3 195243723 [T/G] NM_006241 PPP1R2 EXON Missense_Q197K exm374380 3 195245832 [A/G] NM_006241 PPP1R2 EXON Missense_T185M exm374397 3 195269749 [T/C] NM_006241 PPP1R2 EXON Missense_G34R exm374413 3 195295782 [T/C] NM_001647 APOD EXON Missense_K187E exm374416 3 195295958 [T/C] NM_001647 APOD EXON Missense_Y128C exm374424 3 195300740 [T/C] NM_001647 APOD EXON Missense_V76M exm374428 3 195300800 [A/C] NM_001647 APOD EXON Missense_F56V exm2265653 3 195305994 [A/G] NM_001647 APOD Silent exm2255913 3 195306219 [A/G] NM_001647 APOD EXON Synonymous_D38D exm374438 3 195306219 [A/G] NM_001647 APOD EXON Synonymous_D38D exm2239130 3 195306242 [A/G] NM_001647 APOD EXON Missense_P31S exm374444 3 195306289 [A/G] NM_001647 APOD EXON Missense_F15S exm2265550 3 195308171 [A/G] NM_001647 APOD Silent exm374531 3 195453042 [T/C] NM_152673,NM_001098516 MUC20,MUC20 EXON Missense_V352A,Missense_V317A exm374541 3 195453200 [T/C] NM_152673,NM_001098516 MUC20,MUC20 EXON Missense_P405S,Missense_P370S exm374575 3 195456549 [T/C] NM_152673,NM_001098516 MUC20,MUC20 EXON Missense_L496P,Missense_L461P exm374577 3 195456564 [T/C] NM_152673,NM_001098516 MUC20,MUC20 EXON Missense_P501L,Missense_P466L exm374581 3 195460045 [A/G] NM_152673,NM_001098516 MUC20,MUC20 EXON Missense_A525T,Missense_A490T exm374584 3 195460073 [A/G] NM_152673,NM_001098516 MUC20,MUC20 EXON Missense_R534H,Missense_R499H exm374591 3 195474126 [T/G] NM_018406,NM_138297,NM_004532 MUC4,MUC4,MUC4 EXON Missense_T5387K,Missense_T1100K,Missense_T1151K exm374592 3 195474138 [A/G] NM_018406,NM_138297,NM_004532 MUC4,MUC4,MUC4 EXON Missense_L5383P,Missense_L1096P,Missense_L1147P exm374594 3 195474160 [A/C] NM_018406,NM_138297,NM_004532 MUC4,MUC4,MUC4 EXON Missense_A5376S,Missense_A1089S,Missense_A1140S exm2275368 3 195474176 [A/G] NM_018406,NM_138297,NM_004532 MUC4,MUC4,MUC4 EXON Synonymous_F5370F,Synonymous_F1083F,Synonymous_F1134F exm374611 3 195475900 [T/C] NM_018406,NM_138297,NM_004532 MUC4,MUC4,MUC4 EXON Missense_D5303N,Missense_D1016N,Missense_D1067N exm374619 3 195477779 [A/G] NM_018406,NM_138297,NM_004532 MUC4,MUC4,MUC4 EXON Synonymous_D5284D,Synonymous_D997D,Synonymous_D1048D exm374636 3 195478082 [A/G] NM_018406,NM_138297,NM_004532 MUC4,MUC4,MUC4 EXON Nonsense_R5215X,Nonsense_R928X,Nonsense_R979X exm374650 3 195479250 [A/G] NM_018406,NM_138297,NM_004532 MUC4,MUC4,MUC4 EXON Synonymous_N5192N,Synonymous_N905N,Synonymous_N956N exm374663 3 195481085 [T/C] NM_018406,NM_138297,NM_004532 MUC4,MUC4,MUC4 EXON Synonymous_A5109A,Synonymous_A822A,Synonymous_A873A exm374664 3 195481086 [A/G] NM_018406,NM_138297,NM_004532 MUC4,MUC4,MUC4 EXON Missense_A5109V,Missense_A822V,Missense_A873V exm374665 3 195481111 [T/G] NM_018406,NM_138297,NM_004532 MUC4,MUC4,MUC4 EXON Missense_L5101M,Missense_L814M,Missense_L865M exm374667 3 195481129 [A/C] NM_018406,NM_138297,NM_004532 MUC4,MUC4,MUC4 EXON Nonsense_E5095X,Nonsense_E808X,Nonsense_E859X exm374673 3 195481215 [T/G] NM_018406,NM_138297,NM_004532 MUC4,MUC4,MUC4 EXON Missense_T5066N,Missense_T779N,Missense_T830N exm374684 3 195486072 [A/G] NM_018406,NM_138297,NM_004532 MUC4,MUC4,MUC4 EXON Missense_T4970M,Missense_T683M,Missense_T734M exm374685 3 195486102 [T/C] NM_018406,NM_138297,NM_004532 MUC4,MUC4,MUC4 EXON Missense_R4960H,Missense_R673H,Missense_R724H exm374687 3 195486123 [A/G] NM_018406,NM_138297,NM_004532 MUC4,MUC4,MUC4 EXON Missense_P4953L,Missense_P666L,Missense_P717L exm374694 3 195487823 [T/C] NM_018406,NM_138297,NM_004532 MUC4,MUC4,MUC4 EXON Missense_R4927H,Missense_R640H,Missense_R691H exm374695 3 195487824 [A/G] NM_018406,NM_138297,NM_004532 MUC4,MUC4,MUC4 EXON Missense_R4927C,Missense_R640C,Missense_R691C exm2239133 3 195487857 [A/C] NM_018406,NM_138297,NM_004532 MUC4,MUC4,MUC4 EXON Missense_D4916Y,Missense_D629Y,Missense_D680Y exm374699 3 195487874 [A/G] NM_018406,NM_138297,NM_004532 MUC4,MUC4,MUC4 EXON Missense_I4910T,Missense_I623T,Missense_I674T exm374705 3 195489009 [A/C] NM_018406,NM_138297,NM_004532 MUC4,MUC4,MUC4 EXON Missense_A4821S,Missense_A534S,Missense_A585S exm374711 3 195489087 [A/G] NM_018406,NM_138297,NM_004532 MUC4,MUC4,MUC4 EXON Missense_R4795C,Missense_R508C,Missense_R559C exm374720 3 195490309 [T/C] NM_018406,NM_138297,NM_004532 MUC4,MUC4,MUC4 EXON Missense_V4750I,Missense_V463I,Missense_V514I exm374735 3 195491903 [T/C] NM_018406,NM_138297,NM_004532 MUC4,MUC4,MUC4 EXON Missense_R4630H,Missense_R343H,Missense_R394H exm374737 3 195491979 [T/C] NM_018406,NM_138297,NM_004532 MUC4,MUC4,MUC4 EXON Missense_G4605S,Missense_G318S,Missense_G369S exm374756 3 195495983 [T/C] NM_018406,NM_138297,NM_004532 MUC4,MUC4,MUC4 EXON Missense_R4480K,Missense_R193K,Missense_R244K exm374758 3 195496005 [T/C] NM_018406,NM_138297,NM_004532 MUC4,MUC4,MUC4 EXON Missense_I4473V,Missense_I186V,Missense_I237V exm374761 3 195497121 [T/C] NM_018406,NM_138297,NM_004532 MUC4,MUC4,MUC4 EXON Missense_N4455S,Missense_N168S,Missense_N219S exm374762 3 195497129 [T/C] NM_018406,NM_138297,NM_004532 MUC4,MUC4,MUC4 EXON Synonymous_T4452T,Synonymous_T165T,Synonymous_T216T exm374765 3 195497143 [T/C] NM_018406,NM_138297,NM_004532 MUC4,MUC4,MUC4 EXON Missense_A4448T,Missense_A161T,Missense_A212T exm374775 3 195498600 [A/G] NM_018406,NM_138297,NM_004532 MUC4,MUC4,MUC4 EXON Missense_R4389W,Missense_R102W,Missense_R153W exm374777 3 195501100 [T/C] NM_018406,NM_138297,NM_004532 MUC4,MUC4,MUC4 EXON Synonymous_P4340P,Synonymous_P53P,Synonymous_P104P exm374785 3 195501149 [T/C] NM_018406,NM_138297,NM_004532 MUC4,MUC4,MUC4 EXON Missense_G4324D,Missense_G37D,Missense_G88D exm374787 3 195501162 [A/G] NM_018406,NM_138297,NM_004532 MUC4,MUC4,MUC4 EXON Missense_P4320S,Missense_P33S,Missense_P84S exm374790 3 195505182 [A/G] NM_018406,NM_138297,NM_004532 MUC4,MUC4,MUC4 EXON Missense_P4312L,Silent,Missense_P76L exm2239135 3 195505212 [T/C] NM_018406,NM_138297,NM_004532 MUC4,MUC4,MUC4 EXON Missense_R4302H,Silent,Missense_R66H exm374803 3 195505699 [T/G] NM_018406,NM_138297,NM_004532 MUC4,MUC4,MUC4 EXON Missense_T4251K,Silent,Silent exm2255926 3 195515508 [A/G] NM_018406,NM_138297,NM_004532 MUC4,MUC4,MUC4 EXON Synonymous_Y981Y,Silent,Silent exm375647 3 195515510 [A/C] NM_018406,NM_138297,NM_004532 MUC4,MUC4,MUC4 EXON Missense_Y981D,Silent,Silent exm375651 3 195515543 [A/G] NM_018406,NM_138297,NM_004532 MUC4,MUC4,MUC4 EXON Missense_L970F,Silent,Silent exm375654 3 195515550 [C/G] NM_018406,NM_138297,NM_004532 MUC4,MUC4,MUC4 EXON Synonymous_T967T,Silent,Silent exm375661 3 195515594 [C/G] NM_018406,NM_138297,NM_004532 MUC4,MUC4,MUC4 EXON Missense_E953Q,Silent,Silent exm375664 3 195515617 [G/C] NM_018406,NM_138297,NM_004532 MUC4,MUC4,MUC4 EXON Missense_T945S,Silent,Silent exm375672 3 195515723 [T/C] NM_018406,NM_138297,NM_004532 MUC4,MUC4,MUC4 EXON Missense_T910A,Silent,Silent exm375680 3 195515800 [C/G] NM_018406,NM_138297,NM_004532 MUC4,MUC4,MUC4 EXON Missense_R884T,Silent,Silent exm375687 3 195515996 [T/C] NM_018406,NM_138297,NM_004532 MUC4,MUC4,MUC4 EXON Missense_E819K,Silent,Silent exm2255927 3 195516364 [A/G] NM_018406,NM_138297,NM_004532 MUC4,MUC4,MUC4 EXON Missense_A696V,Silent,Silent exm375709 3 195516380 [A/C] NM_018406,NM_138297,NM_004532 MUC4,MUC4,MUC4 EXON Missense_A691S,Silent,Silent exm375711 3 195516403 [A/G] NM_018406,NM_138297,NM_004532 MUC4,MUC4,MUC4 EXON Missense_P683L,Silent,Silent exm375729 3 195516730 [A/G] NM_018406,NM_138297,NM_004532 MUC4,MUC4,MUC4 EXON Missense_T574I,Silent,Silent exm375730 3 195516731 [T/C] NM_018406,NM_138297,NM_004532 MUC4,MUC4,MUC4 EXON Missense_T574A,Silent,Silent exm375735 3 195516878 [T/C] NM_018406,NM_138297,NM_004532 MUC4,MUC4,MUC4 EXON Missense_T525A,Silent,Silent exm375736 3 195516890 [T/G] NM_018406,NM_138297,NM_004532 MUC4,MUC4,MUC4 EXON Missense_P521T,Silent,Silent exm375738 3 195516970 [T/C] NM_018406,NM_138297,NM_004532 MUC4,MUC4,MUC4 EXON Missense_S494N,Silent,Silent exm375739 3 195516980 [A/G] NM_018406,NM_138297,NM_004532 MUC4,MUC4,MUC4 EXON Missense_S491P,Silent,Silent exm375740 3 195516982 [A/G] NM_018406,NM_138297,NM_004532 MUC4,MUC4,MUC4 EXON Missense_S490F,Silent,Silent exm375742 3 195517048 [T/C] NM_018406,NM_138297,NM_004532 MUC4,MUC4,MUC4 EXON Missense_R468K,Silent,Silent exm375743 3 195517060 [T/C] NM_018406,NM_138297,NM_004532 MUC4,MUC4,MUC4 EXON Missense_R464Q,Silent,Silent exm375745 3 195517076 [T/C] NM_018406,NM_138297,NM_004532 MUC4,MUC4,MUC4 EXON Missense_A459T,Silent,Silent exm375746 3 195517097 [A/G] NM_018406,NM_138297,NM_004532 MUC4,MUC4,MUC4 EXON Missense_H452Y,Silent,Silent exm375749 3 195517124 [A/G] NM_018406,NM_138297,NM_004532 MUC4,MUC4,MUC4 EXON Synonymous_L443L,Silent,Silent exm375754 3 195517201 [T/G] NM_018406,NM_138297,NM_004532 MUC4,MUC4,MUC4 EXON Missense_T417N,Silent,Silent exm375756 3 195517220 [A/G] NM_018406,NM_138297,NM_004532 MUC4,MUC4,MUC4 EXON Missense_S411P,Silent,Silent exm375757 3 195517243 [T/G] NM_018406,NM_138297,NM_004532 MUC4,MUC4,MUC4 EXON Missense_T403N,Silent,Silent exm375759 3 195517321 [A/G] NM_018406,NM_138297,NM_004532 MUC4,MUC4,MUC4 EXON Missense_T377I,Silent,Silent exm375764 3 195517414 [A/G] NM_018406,NM_138297,NM_004532 MUC4,MUC4,MUC4 EXON Missense_P346L,Silent,Silent exm375765 3 195517441 [T/G] NM_018406,NM_138297,NM_004532 MUC4,MUC4,MUC4 EXON Missense_Q337P,Silent,Silent exm375772 3 195517553 [A/C] NM_018406,NM_138297,NM_004532 MUC4,MUC4,MUC4 EXON Missense_F300V,Silent,Silent exm375780 3 195518002 [T/C] NM_018406,NM_138297,NM_004532 MUC4,MUC4,MUC4 EXON Missense_N150S,Silent,Silent exm375781 3 195518036 [T/A] NM_018406,NM_138297,NM_004532 MUC4,MUC4,MUC4 EXON Missense_T139S,Silent,Silent exm375782 3 195518098 [A/T] NM_018406,NM_138297,NM_004532 MUC4,MUC4,MUC4 EXON Missense_E118V,Silent,Silent exm375788 3 195518119 [T/A] NM_018406,NM_138297,NM_004532 MUC4,MUC4,MUC4 EXON Missense_M111K,Silent,Silent exm2255928 3 195518120 [T/G] NM_018406,NM_138297,NM_004532 MUC4,MUC4,MUC4 EXON Missense_M111L,Silent,Silent exm375791 3 195518128 [T/C] NM_018406,NM_138297,NM_004532 MUC4,MUC4,MUC4 EXON Missense_H108R,Silent,Silent exm375793 3 195518170 [A/G] NM_018406,NM_138297,NM_004532 MUC4,MUC4,MUC4 EXON Missense_T94M,Silent,Silent exm375795 3 195518206 [A/G] NM_018406,NM_138297,NM_004532 MUC4,MUC4,MUC4 EXON Missense_T82M,Silent,Silent exm375800 3 195518330 [G/C] NM_018406,NM_138297,NM_004532 MUC4,MUC4,MUC4 EXON Missense_A41P,Silent,Silent exm375805 3 195538675 [T/C] NM_018406,NM_138297,NM_004532 MUC4,MUC4,MUC4 EXON Missense_R5H,Missense_R5H,Missense_R5H exm2273381 3 195591029 [A/C] NM_005781,NM_001010938 TNK2,TNK2 EXON Silent,Silent exm2273382 3 195591034 [T/G] NM_005781,NM_001010938 TNK2,TNK2 EXON Silent,Silent exm375817 3 195591056 [T/C] NM_005781,NM_001010938 TNK2,TNK2 EXON Missense_R1038H,Missense_R1086H exm375818 3 195591057 [A/G] NM_005781,NM_001010938 TNK2,TNK2 EXON Missense_R1038C,Missense_R1086C exm375822 3 195593822 [T/G] NM_005781,NM_001010938 TNK2,TNK2 EXON Missense_F1016L,Missense_F1064L exm375830 3 195594068 [T/C] NM_005781,NM_001010938 TNK2,TNK2 EXON Missense_S985N,Silent exm375832 3 195594241 [G/C] NM_005781,NM_001010938 TNK2,TNK2 EXON Missense_K961N,Missense_K1039N exm375846 3 195594494 [T/C] NM_005781,NM_001010938 TNK2,TNK2 EXON Missense_R877H,Missense_R955H exm375847 3 195594503 [T/C] NM_005781,NM_001010938 TNK2,TNK2 EXON Missense_R874H,Missense_R952H exm375858 3 195594638 [T/G] NM_005781,NM_001010938 TNK2,TNK2 EXON Missense_T829N,Missense_T907N exm375860 3 195594707 [T/C] NM_005781,NM_001010938 TNK2,TNK2 EXON Missense_R806Q,Missense_R884Q exm375884 3 195594950 [A/G] NM_005781,NM_001010938 TNK2,TNK2 EXON Missense_P725L,Missense_P803L exm375897 3 195595091 [T/C] NM_005781,NM_001010938 TNK2,TNK2 EXON Missense_R678Q,Missense_R756Q exm375904 3 195595212 [T/C] NM_005781,NM_001010938 TNK2,TNK2 EXON Missense_V638M,Missense_V716M exm375919 3 195595374 [A/G] NM_005781,NM_001010938 TNK2,TNK2 EXON Missense_P584S,Missense_P662S exm375929 3 195595428 [C/G] NM_005781,NM_001010938 TNK2,TNK2 EXON Missense_A566P,Missense_A644P exm375940 3 195595547 [T/A] NM_005781,NM_001010938 TNK2,TNK2 EXON Missense_D526V,Missense_D604V exm375942 3 195595559 [A/C] NM_005781,NM_001010938 TNK2,TNK2 EXON Missense_S522I,Missense_S600I exm375960 3 195597000 [C/G] NM_005781,NM_001010938 TNK2,TNK2 EXON Missense_L510V,Missense_L573V exm375961 3 195597009 [A/G] NM_005781,NM_001010938 TNK2,TNK2 EXON Missense_P507S,Missense_P570S exm375963 3 195597014 [T/C] NM_005781,NM_001010938 TNK2,TNK2 EXON Missense_R505Q,Missense_R568Q exm376005 3 195605334 [A/G] NM_005781,NM_001010938 TNK2,TNK2 EXON Missense_R382W,Missense_R445W exm376028 3 195609069 [T/C] NM_005781,NM_001010938 TNK2,TNK2 EXON Missense_R247H,Missense_R310H exm2047821 3 195609162 [T/C] NM_005781,NM_001010938 TNK2,TNK2 EXON Missense_R216Q,Missense_R279Q exm376044 3 195611774 [G/C] NM_005781,NM_001010938 TNK2,TNK2 EXON Missense_G122A,Missense_G185A exm376047 3 195611834 [A/G] NM_005781,NM_001010938 TNK2,TNK2 EXON Missense_S102L,Missense_S165L exm376048 3 195611844 [A/G] NM_005781,NM_001010938 TNK2,TNK2 EXON Missense_R99W,Missense_R162W exm376055 3 195615303 [A/G] NM_005781,NM_001010938 TNK2,TNK2 EXON Missense_R53W,Missense_R116W exm376081 3 195778839 [T/C] NM_003234,NM_001128148 TFRC,TFRC EXON Missense_V753I,Missense_V753I exm376092 3 195782006 [T/C] NM_003234,NM_001128148 TFRC,TFRC EXON Missense_N615S,Missense_N615S exm376093 3 195782037 [T/C] NM_003234,NM_001128148 TFRC,TFRC EXON Missense_V605I,Missense_V605I exm376096 3 195782058 [T/C] NM_003234,NM_001128148 TFRC,TFRC EXON Missense_V598M,Missense_V598M exm376118 3 195789515 [T/C] NM_003234,NM_001128148 TFRC,TFRC EXON Missense_G469E,Missense_G469E exm376126 3 195791240 [T/C] NM_003234,NM_001128148 TFRC,TFRC EXON Missense_G420S,Missense_G420S exm376129 3 195791279 [T/C] NM_003234,NM_001128148 TFRC,TFRC EXON Missense_A407T,Missense_A407T exm376137 3 195792457 [T/C] NM_003234,NM_001128148 TFRC,TFRC EXON Missense_D352G,Missense_D352G exm376139 3 195794391 [A/G] NM_003234,NM_001128148 TFRC,TFRC EXON Synonymous_F346F,Synonymous_F346F exm2239298 3 195794420 [T/C] NM_003234,NM_001128148 TFRC,TFRC EXON Missense_I337V,Missense_I337V exm376161 3 195798320 [C/G] NM_003234,NM_001128148 TFRC,TFRC EXON Missense_L212V,Missense_L212V exm-rs9859260 3 195800547 [T/C] NM_003234,NM_001128148 TFRC,TFRC Silent,Silent exm376168 3 195800811 [T/C] NM_003234,NM_001128148 TFRC,TFRC EXON Missense_G142S,Missense_G142S exm-rs11915082 3 195809139 [A/G] exm2269596 3 195823775 [T/C] exm376194 3 195925173 [A/G] NM_001039617 ZDHHC19 EXON Missense_A308V exm376196 3 195925183 [T/A] NM_001039617 ZDHHC19 EXON Missense_T305S exm376204 3 195925709 [T/C] NM_001039617 ZDHHC19 EXON Missense_G242S exm-rs11924930 3 195928854 [A/G] NM_001039617 ZDHHC19 Silent exm376210 3 195934276 [T/C] NM_001039617 ZDHHC19 EXON Missense_K227R exm376211 3 195934286 [G/C] NM_001039617 ZDHHC19 EXON Missense_R224G exm376219 3 195935308 [A/G] NM_001039617 ZDHHC19 EXON Missense_F178L exm376221 3 195935346 [T/C] NM_001039617 ZDHHC19 EXON Missense_C165Y exm376224 3 195936290 [A/G] NM_001039617 ZDHHC19 EXON Missense_P122L exm376229 3 195936319 [T/G] NM_001039617 ZDHHC19 EXON Missense_Q112H exm376232 3 195936337 [T/G] NM_001039617 ZDHHC19 EXON Missense_H106Q exm376239 3 195937559 [T/C] NM_001039617 ZDHHC19 EXON Missense_G66S exm376245 3 195938041 [A/G] NM_001039617 ZDHHC19 EXON Missense_P49L exm376261 3 195943590 [T/C] NM_152672 SLC51A EXON Missense_P3S exm376273 3 195953837 [T/C] NM_152672 SLC51A EXON Synonymous_A45A exm376275 3 195953862 [A/G] NM_152672 SLC51A EXON Missense_T54A exm376277 3 195953919 [A/G] NM_152672 SLC51A EXON Missense_V73I exm376288 3 195954554 [C/G] NM_152672 SLC51A EXON Missense_C103S exm2047943 3 195955026 [T/G] NM_152672 SLC51A EXON Missense_V135L exm376305 3 195955744 [G/C] NM_152672 SLC51A EXON Missense_L196V exm376306 3 195955754 [T/C] NM_152672 SLC51A EXON Missense_L199P exm376308 3 195955762 [A/G] NM_152672 SLC51A EXON Missense_V202I exm376318 3 195956874 [A/G] NM_152672 SLC51A EXON Missense_R241H exm376322 3 195959323 [A/G] NM_152672 SLC51A EXON Missense_I272V exm376325 3 195959389 [T/C] NM_152672 SLC51A EXON Missense_S294P exm376332 3 195960020 [A/G] NM_152672 SLC51A EXON Missense_G325R exm376334 3 195960068 [T/C] NM_152672 SLC51A EXON Missense_X341Q exm376344 3 195965653 [A/G] NM_005017 PCYT1A EXON Missense_P337L exm376364 3 195968819 [A/G] NM_005017 PCYT1A EXON Synonymous_N236N exm2047963 3 195974246 [T/C] NM_005017 PCYT1A EXON Missense_E160K exm376386 3 195984662 [T/G] NM_005017 PCYT1A EXON Missense_P72T exm376391 3 195984752 [A/G] NM_005017 PCYT1A EXON Missense_R42W exm2273990 3 195997297 [A/G] NM_005017 PCYT1A EXON Missense_R36C exm2047970 3 195997345 [C/G] NM_005017 PCYT1A EXON Missense_G20R exm376397 3 195997390 [A/G] NM_005017 PCYT1A EXON Missense_C5R exm376405 3 196022902 [T/C] NM_152773 TCTEX1D2 EXON Missense_N119S exm376408 3 196022930 [A/G] NM_152773 TCTEX1D2 EXON Missense_R110C exm376424 3 196045013 [A/G] NM_152773,NR_037950 TCTEX1D2,TM4SF19-TCTEX1D2 EXON Missense_S4F,Silent exm376425 3 196045014 [A/T] NM_152773,NR_037950 TCTEX1D2,TM4SF19-TCTEX1D2 EXON Missense_S4T,Silent exm376426 3 196050696 [T/C] NR_037950,NM_138461,NM_001204897,NM_001204898 TM4SF19-TCTEX1D2,TM4SF19,TM4SF19,TM4SF19 EXON Silent,Missense_E208K,Synonymous_A206A,Missense_E182K exm376427 3 196050728 [T/C] NR_037950,NM_138461,NM_001204897,NM_001204898 TM4SF19-TCTEX1D2,TM4SF19,TM4SF19,TM4SF19 EXON Silent,Missense_N197S,Missense_T196A,Missense_N171S exm376433 3 196050834 [T/C] NR_037950,NM_138461,NM_001204897,NM_001204898 TM4SF19-TCTEX1D2,TM4SF19,TM4SF19,TM4SF19 EXON Silent,Missense_V162I,Synonymous_P160P,Missense_V136I exm376436 3 196050862 [A/G] NR_037950,NM_138461,NM_001204897,NM_001204898 TM4SF19-TCTEX1D2,TM4SF19,TM4SF19,TM4SF19 EXON Silent,Synonymous_Y152Y,Missense_I151T,Synonymous_Y126Y exm376438 3 196051184 [T/C] NR_037950,NM_138461,NM_001204897,NM_001204898 TM4SF19-TCTEX1D2,TM4SF19,TM4SF19,TM4SF19 EXON Silent,Missense_Q136R,Missense_Q136R,Missense_Q110R exm376439 3 196051191 [A/G] NR_037950,NM_138461,NM_001204897,NM_001204898 TM4SF19-TCTEX1D2,TM4SF19,TM4SF19,TM4SF19 EXON Silent,Nonsense_Q134X,Nonsense_Q134X,Nonsense_Q108X exm376446 3 196053903 [A/C] NR_037950,NM_138461,NM_001204897,NM_001204898 TM4SF19-TCTEX1D2,TM4SF19,TM4SF19,TM4SF19 EXON Silent,Missense_V68L,Missense_V68L,Silent exm376448 3 196054284 [T/C] NR_037950,NM_138461,NM_001204897,NM_001204898 TM4SF19-TCTEX1D2,TM4SF19,TM4SF19,TM4SF19 EXON Silent,Missense_G60R,Missense_G60R,Missense_G60R exm376450 3 196054374 [G/C] NR_037950,NM_138461,NM_001204897,NM_001204898 TM4SF19-TCTEX1D2,TM4SF19,TM4SF19,TM4SF19 EXON Silent,Missense_A30P,Missense_A30P,Missense_A30P exm376453 3 196054425 [T/C] NR_037950,NM_138461,NM_001204897,NM_001204898 TM4SF19-TCTEX1D2,TM4SF19,TM4SF19,TM4SF19 EXON Silent,Missense_T13A,Missense_T13A,Missense_T13A exm376456 3 196054439 [T/G] NR_037950,NM_138461,NM_001204897,NM_001204898 TM4SF19-TCTEX1D2,TM4SF19,TM4SF19,TM4SF19 EXON Silent,Missense_Q8P,Missense_Q8P,Missense_Q8P exm376485 3 196098796 [T/C] NM_015562 UBXN7 EXON Missense_I196V exm376512 3 196198925 [A/G] NM_152617 RNF168 EXON Missense_P494L exm376519 3 196199131 [A/C] NM_152617 RNF168 EXON Missense_F425L exm376520 3 196199169 [T/C] NM_152617 RNF168 EXON Missense_E413K exm376523 3 196199204 [T/G] NM_152617 RNF168 EXON Missense_P401Q exm376526 3 196199246 [T/C] NM_152617 RNF168 EXON Missense_K387R exm376528 3 196199274 [A/G] NM_152617 RNF168 EXON Missense_C378R exm376535 3 196199376 [T/C] NM_152617 RNF168 EXON Missense_A344T exm376537 3 196199387 [A/G] NM_152617 RNF168 EXON Missense_S340L exm376540 3 196199430 [A/G] NM_152617 RNF168 EXON Missense_C326R exm376544 3 196199582 [A/G] NM_152617 RNF168 EXON Missense_P275L exm376553 3 196210725 [A/G] NM_152617 RNF168 EXON Missense_L199S exm376556 3 196214299 [T/C] NM_152617 RNF168 EXON Missense_E177K exm376557 3 196214320 [T/C] NM_152617 RNF168 EXON Missense_E170K exm376558 3 196214329 [T/C] NM_152617 RNF168 EXON Missense_A167T exm2048046 3 196214346 [A/G] NM_152617 RNF168 EXON Missense_A161V exm376560 3 196214358 [T/C] NM_152617 RNF168 EXON Missense_E157G exm376565 3 196214437 [A/G] NM_152617 RNF168 EXON Nonsense_R131X exm376567 3 196214445 [A/G] NM_152617 RNF168 EXON Missense_A128V exm376570 3 196215549 [T/C] NM_152617 RNF168 EXON Missense_D103N exm376575 3 196229810 [T/C] NM_152617 RNF168 EXON Missense_I79V exm376588 3 196234777 [A/G] NM_001077657 C3orf43 EXON Missense_I209T exm376590 3 196234847 [T/C] NM_001077657 C3orf43 EXON Missense_V186M exm376591 3 196234868 [A/G] NM_001077657 C3orf43 EXON Nonsense_Q179X exm376604 3 196235107 [A/G] NM_001077657 C3orf43 EXON Missense_V99A exm376607 3 196235191 [A/G] NM_001077657 C3orf43 EXON Missense_M71T exm376610 3 196236400 [T/C] NM_001077657 C3orf43 EXON Missense_R64Q exm376611 3 196236401 [A/G] NM_001077657 C3orf43 EXON Missense_R64W exm376614 3 196236520 [A/G] NM_001077657 C3orf43 EXON Missense_A24V exm376615 3 196236533 [A/G] NM_001077657 C3orf43 EXON Missense_H20Y exm2048069 3 196281116 [T/C] NM_182627 WDR53 EXON Missense_S348N exm376624 3 196281263 [T/C] NM_182627 WDR53 EXON Missense_G299D exm376642 3 196281618 [C/G] NM_182627 WDR53 EXON Missense_E181Q exm376654 3 196288198 [T/C] NM_182627 WDR53 EXON Missense_G50E exm376656 3 196288243 [A/G] NM_182627 WDR53 EXON Missense_A35V exm376657 3 196288246 [A/G] NM_182627 WDR53 EXON Missense_T34M exm376660 3 196288320 [A/C] NM_182627 WDR53 EXON Missense_H9Q exm376661 3 196288330 [A/G] NM_182627 WDR53 EXON Missense_T6M exm376684 3 196381480 [A/G] NM_198565 LRRC33 EXON Missense_G24R exm376692 3 196386693 [A/G] NM_198565 LRRC33 EXON Missense_R60Q exm376709 3 196386993 [A/G] NM_198565 LRRC33 EXON Missense_R160Q exm376711 3 196387058 [A/C] NM_198565 LRRC33 EXON Missense_R182S exm376716 3 196387121 [A/G] NM_198565 LRRC33 EXON Missense_G203S exm376725 3 196387383 [T/G] NM_198565 LRRC33 EXON Missense_L290R exm376735 3 196387607 [A/C] NM_198565 LRRC33 EXON Missense_M365L exm376742 3 196387697 [C/G] NM_198565 LRRC33 EXON Missense_P395A exm376743 3 196387698 [T/C] NM_198565 LRRC33 EXON Missense_P395L exm376746 3 196387763 [A/G] NM_198565 LRRC33 EXON Missense_V417I exm376757 3 196387884 [A/G] NM_198565 LRRC33 EXON Missense_D457G exm376770 3 196388134 [G/C] NM_198565 LRRC33 EXON Missense_D540E exm376772 3 196388145 [T/C] NM_198565 LRRC33 EXON Missense_S544L exm376774 3 196388160 [T/C] NM_198565 LRRC33 EXON Missense_T549I exm2239307 3 196388220 [T/C] NM_198565 LRRC33 EXON Missense_S569L exm376778 3 196388258 [T/C] NM_198565 LRRC33 EXON Missense_L582F exm376779 3 196388273 [T/C] NM_198565 LRRC33 EXON Missense_R587W exm376780 3 196388274 [A/G] NM_198565 LRRC33 EXON Missense_R587Q exm376781 3 196388342 [A/G] NM_198565 LRRC33 EXON Missense_G610R exm376782 3 196388349 [T/C] NM_198565 LRRC33 EXON Missense_T612M exm376794 3 196388474 [A/G] NM_198565 LRRC33 EXON Missense_V654M exm2048116 3 196388564 [A/G] NM_198565 LRRC33 EXON Missense_S684G exm376809 3 196434643 [C/G] NM_032898 CEP19 EXON Missense_E95Q exm2255932 3 196434692 [A/G] NM_032898 CEP19 EXON Synonymous_F78F exm376815 3 196434747 [A/G] NM_032898 CEP19 EXON Missense_P60L exm376821 3 196435534 [T/C] NM_032898 CEP19 EXON Missense_M3V exm2048127 3 196435539 [A/G] NM_032898 CEP19 EXON Missense_M1T exm376836 3 196454936 [A/G] NM_017861,NM_001166304 PIGX,PIGX EXON Missense_R154Q,Missense_R154Q exm376837 3 196454939 [T/C] NM_017861,NM_001166304 PIGX,PIGX EXON Missense_P155L,Missense_P155L exm376840 3 196455600 [A/G] NM_017861,NM_001166304 PIGX,PIGX EXON Silent,Missense_R187Q exm376842 3 196457899 [T/C] NM_017861,NM_001166304 PIGX,PIGX EXON Missense_V190A,Missense_V208A exm376849 3 196460733 [A/T] NM_017861,NM_001166304 PIGX,PIGX EXON Missense_I246N,Missense_I264N exm2255933 3 196530013 [A/G] NM_002577 PAK2 EXON Synonymous_K138K exm2265551 3 196547538 [A/G] NM_002577 PAK2 Silent exm-rs2084385 3 196553867 [A/G] NM_002577 PAK2 Silent exm376927 3 196612300 [A/G] NM_152699 SENP5 EXON Missense_N83S exm376932 3 196612510 [A/G] NM_152699 SENP5 EXON Missense_N153S exm376954 3 196612959 [T/C] NM_152699 SENP5 EXON Missense_H303Y exm376957 3 196613022 [G/C] NM_152699 SENP5 EXON Missense_P324A exm376958 3 196613029 [C/G] NM_152699 SENP5 EXON Missense_C326S exm376960 3 196613037 [A/C] NM_152699 SENP5 EXON Missense_K329Q exm376963 3 196613072 [A/C] NM_152699 SENP5 EXON Missense_L340F exm376966 3 196613101 [A/G] NM_152699 SENP5 EXON Missense_G350D exm376971 3 196613191 [A/G] NM_152699 SENP5 EXON Missense_H380R exm376979 3 196613316 [A/G] NM_152699 SENP5 EXON Missense_V422M exm376983 3 196613409 [T/C] NM_152699 SENP5 EXON Missense_L453F exm376990 3 196626551 [A/G] NM_152699 SENP5 EXON Missense_V510I exm376992 3 196626830 [A/G] NM_152699 SENP5 EXON Missense_R552Q exm2273384 3 196673831 [A/G] NM_025163 PIGZ EXON Silent exm2255934 3 196674049 [T/C] NM_025163 PIGZ EXON Synonymous_V573V exm377043 3 196674177 [T/C] NM_025163 PIGZ EXON Missense_V531M exm377044 3 196674182 [T/C] NM_025163 PIGZ EXON Missense_R529H exm377050 3 196674237 [T/C] NM_025163 PIGZ EXON Missense_A511T exm377060 3 196674367 [G/C] NM_025163 PIGZ EXON Missense_M467I exm377068 3 196674518 [A/G] NM_025163 PIGZ EXON Missense_V417A exm377072 3 196674599 [T/C] NM_025163 PIGZ EXON Missense_R390Q exm377077 3 196674690 [A/G] NM_025163 PIGZ EXON Missense_R360W exm377081 3 196674749 [T/C] NM_025163 PIGZ EXON Missense_R340Q exm377083 3 196674758 [A/G] NM_025163 PIGZ EXON Missense_A337V exm377098 3 196674944 [A/G] NM_025163 PIGZ EXON Missense_T275M exm377099 3 196674947 [A/G] NM_025163 PIGZ EXON Missense_A274V exm377111 3 196675134 [A/G] NM_025163 PIGZ EXON Missense_R212C exm377116 3 196675151 [A/G] NM_025163 PIGZ EXON Missense_A206V exm377119 3 196675166 [A/G] NM_025163 PIGZ EXON Missense_T201I exm377123 3 196675304 [T/C] NM_025163 PIGZ EXON Missense_R155H exm377126 3 196675319 [A/G] NM_025163 PIGZ EXON Missense_P150L exm377132 3 196675380 [A/G] NM_025163 PIGZ EXON Nonsense_R130X exm377133 3 196675397 [A/G] NM_025163 PIGZ EXON Missense_A124V exm377136 3 196675445 [T/C] NM_025163 PIGZ EXON Missense_R108K exm377141 3 196675533 [T/C] NM_025163 PIGZ EXON Missense_A79T exm377152 3 196678838 [A/G] NM_025163 PIGZ EXON Missense_P22L exm377161 3 196730821 [C/G] NM_005929,NR_038285 MFI2,MFI2-AS1 EXON Missense_D696E,Silent exm377164 3 196730886 [C/G] NM_005929,NR_038285 MFI2,MFI2-AS1 EXON Missense_D675H,Silent exm377170 3 196733469 [T/C] NM_005929 MFI2 EXON Missense_R630Q exm377190 3 196735681 [T/C] NM_005929 MFI2 EXON Missense_R561G exm377191 3 196735687 [T/C] NM_005929 MFI2 EXON Missense_A559T exm377200 3 196735738 [A/G] NM_005929 MFI2 EXON Missense_R542C exm2048231 3 196735756 [T/C] NM_005929 MFI2 EXON Missense_V536M exm377211 3 196736546 [T/C] NM_005929 MFI2 EXON Missense_V490M exm377215 3 196736573 [T/C] NM_005929 MFI2 EXON Missense_G481S exm377216 3 196736575 [A/G] NM_005929 MFI2 EXON Missense_F480S exm377225 3 196736683 [A/G] NM_005929 MFI2 EXON Missense_P444L exm377226 3 196737584 [T/C] NM_005929 MFI2 EXON Missense_G439R exm377229 3 196737602 [T/C] NM_005929 MFI2 EXON Missense_G433S exm377237 3 196737665 [T/C] NM_005929 MFI2 EXON Missense_A412T exm377239 3 196742243 [T/C] NM_005929 MFI2 EXON Missense_R409Q exm2048242 3 196742244 [A/G] NM_005929 MFI2 EXON Missense_R409W exm377244 3 196742309 [T/C] NM_005929 MFI2 EXON Missense_R387H exm377259 3 196743239 [T/C] NM_005929 MFI2 EXON Missense_R301H exm377262 3 196743993 [T/C] NM_005929 MFI2 EXON Missense_R294Q exm377263 3 196743994 [A/G] NM_005929 MFI2 EXON Missense_R294W exm377273 3 196746525 [T/C] NM_005929,NM_033316 MFI2,MFI2 EXON Silent,Missense_D287G exm377279 3 196746595 [T/C] NM_005929,NM_033316 MFI2,MFI2 EXON Silent,Missense_R264G exm377280 3 196746597 [T/C] NM_005929,NM_033316 MFI2,MFI2 EXON Silent,Missense_R263H exm2239319 3 196746607 [T/C] NM_005929,NM_033316 MFI2,MFI2 EXON Silent,Missense_E260K exm377282 3 196746661 [A/G] NM_005929,NM_033316 MFI2,MFI2 EXON Silent,Nonsense_R242X exm377283 3 196746664 [A/G] NM_005929,NM_033316 MFI2,MFI2 EXON Silent,Missense_S241P exm377296 3 196749829 [A/G] NM_005929,NM_033316 MFI2,MFI2 EXON Missense_R215W,Missense_R215W exm377299 3 196749847 [T/C] NM_005929,NM_033316 MFI2,MFI2 EXON Missense_D209N,Missense_D209N exm377317 3 196751237 [T/C] NM_005929,NM_033316 MFI2,MFI2 EXON Missense_V142M,Missense_V142M exm377319 3 196751257 [T/C] NM_005929,NM_033316 MFI2,MFI2 EXON Missense_N135S,Missense_N135S exm377320 3 196751266 [A/G] NM_005929,NM_033316 MFI2,MFI2 EXON Missense_T132M,Missense_T132M exm377321 3 196751281 [A/C] NM_005929,NM_033316 MFI2,MFI2 EXON Missense_V127G,Missense_V127G exm377324 3 196751299 [A/G] NM_005929,NM_033316 MFI2,MFI2 EXON Missense_I121T,Missense_I121T exm377326 3 196751336 [T/C] NM_005929,NM_033316 MFI2,MFI2 EXON Missense_A109T,Missense_A109T exm377328 3 196751341 [T/C] NM_005929,NM_033316 MFI2,MFI2 EXON Missense_Y107C,Missense_Y107C exm377335 3 196753557 [A/G] NM_005929,NM_033316 MFI2,MFI2 EXON Missense_P93L,Missense_P93L exm377337 3 196753581 [A/G] NM_005929,NM_033316 MFI2,MFI2 EXON Missense_A85V,Missense_A85V exm377347 3 196754668 [T/C] NM_005929,NM_033316 MFI2,MFI2 EXON Missense_V55I,Missense_V55I exm377362 3 196771513 [A/G] NM_001204386,NM_001204387,NM_004087,NM_001204388,NM_001098424 DLG1,DLG1,DLG1,DLG1,DLG1 EXON Missense_P887L,Missense_P795L,Missense_P921L,Missense_P783L,Missense_P899L exm377371 3 196792163 [T/C] NM_001204386,NM_001204387,NM_004087,NM_001204388,NM_001098424 DLG1,DLG1,DLG1,DLG1,DLG1 EXON Missense_R785Q,Missense_R693Q,Missense_R819Q,Missense_R681Q,Missense_R797Q exm377373 3 196792196 [T/C] NM_001204386,NM_001204387,NM_004087,NM_001204388,NM_001098424 DLG1,DLG1,DLG1,DLG1,DLG1 EXON Missense_N774S,Missense_N682S,Missense_N808S,Missense_N670S,Missense_N786S exm377381 3 196792663 [A/C] NM_001204386,NM_001204387,NM_004087,NM_001204388,NM_001098424 DLG1,DLG1,DLG1,DLG1,DLG1 EXON Missense_V705L,Missense_V613L,Missense_V739L,Missense_V601L,Missense_V717L exm377391 3 196796090 [A/G] NM_001204386,NM_001204387,NM_004087,NM_001204388,NM_001098424 DLG1,DLG1,DLG1,DLG1,DLG1 EXON Missense_R682C,Synonymous_L578L,Missense_R716C,Missense_R578C,Missense_R694C exm377394 3 196802725 [A/G] NM_001204386,NM_001204387,NM_004087,NM_001204388,NM_001098424 DLG1,DLG1,DLG1,DLG1,DLG1 EXON Silent,Missense_M558T,Silent,Missense_M558T,Missense_M674T exm377400 3 196807928 [A/C] NM_001204386,NM_001204387,NM_004087,NM_001204388,NM_001098424 DLG1,DLG1,DLG1,DLG1,DLG1 EXON Missense_D633E,Missense_D550E,Missense_D666E,Missense_D550E,Missense_D666E exm377401 3 196807971 [T/C] NM_001204386,NM_001204387,NM_004087,NM_001204388,NM_001098424 DLG1,DLG1,DLG1,DLG1,DLG1 EXON Missense_R619Q,Missense_R536Q,Missense_R652Q,Missense_R536Q,Missense_R652Q exm377407 3 196812562 [A/C] NM_001204386,NM_001204387,NM_004087,NM_001204388,NM_001098424 DLG1,DLG1,DLG1,DLG1,DLG1 EXON Missense_F576C,Missense_F493C,Missense_F609C,Missense_F493C,Missense_F609C exm377411 3 196817888 [T/C] NM_001204386,NM_001204387,NM_004087,NM_001204388,NM_001098424 DLG1,DLG1,DLG1,DLG1,DLG1 EXON Missense_R519H,Missense_R436H,Missense_R552H,Missense_R436H,Missense_R552H exm377416 3 196842920 [T/C] NM_001204386,NM_001204387,NM_004087,NM_001204388,NM_001098424 DLG1,DLG1,DLG1,DLG1,DLG1 EXON Missense_T441A,Missense_T358A,Missense_T474A,Missense_T358A,Missense_T474A exm377421 3 196857421 [T/C] NM_001204386,NM_001204387,NM_004087,NM_001204388,NM_001098424 DLG1,DLG1,DLG1,DLG1,DLG1 EXON Missense_Y381C,Missense_Y298C,Missense_Y414C,Missense_Y298C,Missense_Y414C exm377425 3 196857533 [T/C] NM_001204386,NM_001204387,NM_004087,NM_001204388,NM_001098424 DLG1,DLG1,DLG1,DLG1,DLG1 EXON Missense_V344I,Missense_V261I,Missense_V377I,Missense_V261I,Missense_V377I exm2239320 3 196865191 [A/G] NM_001204386,NM_001204387,NM_004087,NM_001204388,NM_001098424 DLG1,DLG1,DLG1,DLG1,DLG1 EXON Missense_A262V,Missense_A179V,Missense_A295V,Missense_A179V,Missense_A295V exm377436 3 196865242 [T/C] NM_001204386,NM_001204387,NM_004087,NM_001204388,NM_001098424 DLG1,DLG1,DLG1,DLG1,DLG1 EXON Missense_R245Q,Missense_R162Q,Missense_R278Q,Missense_R162Q,Missense_R278Q exm377438 3 196867023 [T/C] NM_001204386,NM_001204387,NM_004087,NM_001204388,NM_001098424 DLG1,DLG1,DLG1,DLG1,DLG1 EXON Missense_D234G,Missense_D151G,Missense_D267G,Missense_D151G,Missense_D267G exm377443 3 196876614 [A/G] NM_001204386,NM_001204387,NM_004087,NM_001204388,NM_001098424 DLG1,DLG1,DLG1,DLG1,DLG1 EXON Synonymous_Y179Y,Synonymous_Y96Y,Synonymous_Y212Y,Synonymous_Y96Y,Synonymous_Y212Y exm377452 3 196921352 [A/G] NM_001204386,NM_004087,NM_001098424 DLG1,DLG1,DLG1 EXON Missense_S143P,Missense_S143P,Missense_S143P exm377453 3 196921360 [T/C] NM_001204386,NM_004087,NM_001098424 DLG1,DLG1,DLG1 EXON Missense_K140R,Missense_K140R,Missense_K140R exm377459 3 197009609 [A/G] NM_001204386,NM_004087,NM_001098424 DLG1,DLG1,DLG1 EXON Missense_L87F,Missense_L87F,Missense_L87F exm2265552 3 197063068 [A/G] exm2269702 3 197195013 [T/C] exm377469 3 197238780 [T/C] NM_203315,NM_004051,NM_203314 BDH1,BDH1,BDH1 EXON Missense_I340V,Missense_I340V,Missense_I340V exm377472 3 197238857 [T/C] NM_203315,NM_004051,NM_203314 BDH1,BDH1,BDH1 EXON Missense_R314H,Missense_R314H,Missense_R314H exm377475 3 197238950 [T/A] NM_203315,NM_004051,NM_203314 BDH1,BDH1,BDH1 EXON Missense_K283M,Missense_K283M,Missense_K283M exm377483 3 197239071 [T/C] NM_203315,NM_004051,NM_203314 BDH1,BDH1,BDH1 EXON Missense_A243T,Missense_A243T,Missense_A243T exm377488 3 197239155 [T/C] NM_203315,NM_004051,NM_203314 BDH1,BDH1,BDH1 EXON Missense_V215I,Missense_V215I,Missense_V215I exm377489 3 197239157 [G/C] NM_203315,NM_004051,NM_203314 BDH1,BDH1,BDH1 EXON Missense_G214A,Missense_G214A,Missense_G214A exm377494 3 197239190 [A/G] NM_203315,NM_004051,NM_203314 BDH1,BDH1,BDH1 EXON Missense_P203L,Missense_P203L,Missense_P203L exm377499 3 197239234 [G/C] NM_203315,NM_004051,NM_203314 BDH1,BDH1,BDH1 EXON Synonymous_G188G,Synonymous_G188G,Synonymous_G188G exm377514 3 197241283 [T/C] NM_203315,NM_004051,NM_203314 BDH1,BDH1,BDH1 EXON Missense_M138I,Missense_M138I,Missense_M138I exm377515 3 197241284 [A/G] NM_203315,NM_004051,NM_203314 BDH1,BDH1,BDH1 EXON Missense_M138T,Missense_M138T,Missense_M138T exm377519 3 197249592 [T/C] NM_203315,NM_004051,NM_203314 BDH1,BDH1,BDH1 EXON Missense_V110I,Missense_V110I,Missense_V110I exm377533 3 197260358 [A/G] NM_203315,NM_004051,NM_203314 BDH1,BDH1,BDH1 Silent,Silent,Silent exm377537 3 197260370 [A/G] NM_203315,NM_004051,NM_203314 BDH1,BDH1,BDH1 EXON Missense_A49V,Missense_A49V,Missense_A49V exm377541 3 197260389 [A/G] NM_203315,NM_004051,NM_203314 BDH1,BDH1,BDH1 EXON Missense_R43C,Missense_R43C,Missense_R43C exm377587 3 197403779 [T/C] NM_014687,NM_001145642 KIAA0226,KIAA0226 EXON Missense_A875T,Missense_A830T exm377589 3 197403806 [A/G] NM_014687,NM_001145642 KIAA0226,KIAA0226 EXON Missense_R866W,Missense_R821W exm377594 3 197403844 [T/C] NM_014687,NM_001145642 KIAA0226,KIAA0226 EXON Missense_N853S,Missense_N808S exm377597 3 197408001 [T/C] NM_014687,NM_001145642 KIAA0226,KIAA0226 EXON Missense_R810Q,Missense_R765Q exm377599 3 197408056 [T/C] NM_014687,NM_001145642 KIAA0226,KIAA0226 EXON Missense_V792M,Missense_V747M exm377602 3 197408097 [T/C] NM_014687,NM_001145642 KIAA0226,KIAA0226 EXON Missense_K778R,Missense_K733R exm377605 3 197408139 [T/C] NM_014687,NM_001145642 KIAA0226,KIAA0226 EXON Missense_R764H,Missense_R719H exm377606 3 197408146 [A/C] NM_014687,NM_001145642 KIAA0226,KIAA0226 EXON Missense_V762F,Missense_V717F exm377616 3 197409341 [A/G] NM_014687,NM_001145642 KIAA0226,KIAA0226 EXON Missense_T709M,Missense_T664M exm377638 3 197421270 [T/C] NM_014687,NM_001145642 KIAA0226,KIAA0226 EXON Missense_M554V,Missense_M509V exm377639 3 197421362 [A/G] NM_014687,NM_001145642 KIAA0226,KIAA0226 EXON Missense_V523A,Missense_V478A exm377659 3 197423857 [A/C] NM_014687,NM_001145642 KIAA0226,KIAA0226 EXON Missense_V442G,Missense_V397G exm377663 3 197423888 [C/G] NM_014687,NM_001145642 KIAA0226,KIAA0226 EXON Missense_P432A,Missense_P387A exm377683 3 197427696 [T/C] NM_014687,NM_001145642 KIAA0226,KIAA0226 EXON Missense_S350N,Missense_S290N exm377684 3 197427706 [T/C] NM_014687,NM_001145642 KIAA0226,KIAA0226 EXON Missense_E347K,Missense_E287K exm377687 3 197427816 [T/C] NM_014687,NM_001145642 KIAA0226,KIAA0226 EXON Missense_S310N,Missense_S250N exm377700 3 197428623 [T/C] NM_014687,NM_001145642 KIAA0226,KIAA0226 EXON Missense_G228E,Missense_G168E exm377702 3 197428713 [A/G] NM_014687,NM_001145642 KIAA0226,KIAA0226 EXON Missense_P198L,Missense_P138L exm2048403 3 197430430 [T/C] NM_014687,NM_001145642 KIAA0226,KIAA0226 EXON Missense_D187N,Missense_D127N exm2273991 3 197430447 [T/C] NM_014687,NM_001145642 KIAA0226,KIAA0226 EXON Missense_R181H,Missense_R121H exm377709 3 197431446 [T/C] NM_014687,NM_001145642 KIAA0226,KIAA0226 EXON Missense_G144R,Missense_G84R exm377711 3 197431458 [A/G] NM_014687,NM_001145642 KIAA0226,KIAA0226 EXON Missense_R140W,Missense_R80W exm377712 3 197431479 [A/G] NM_014687,NM_001145642 KIAA0226,KIAA0226 EXON Missense_H133Y,Missense_H73Y exm377717 3 197432000 [T/C] NM_014687,NM_001145642 KIAA0226,KIAA0226 EXON Missense_R89Q,Missense_R29Q exm377720 3 197432036 [T/C] NM_014687,NM_001145642 KIAA0226,KIAA0226 EXON Missense_R77H,Missense_R17H exm377721 3 197432039 [T/C] NM_014687,NM_001145642 KIAA0226,KIAA0226 EXON Missense_R76H,Missense_R16H exm377722 3 197432040 [A/G] NM_014687,NM_001145642 KIAA0226,KIAA0226 EXON Missense_R76C,Missense_R16C exm377746 3 197495334 [A/G] NM_001011537,NM_032288,NR_027840 FYTTD1,FYTTD1,FYTTD1 EXON Missense_R61H,Missense_R87H,Silent exm377761 3 197503828 [T/G] NM_001011537,NM_032288,NR_027840 FYTTD1,FYTTD1,FYTTD1 EXON Missense_I203M,Missense_I229M,Silent exm2048437 3 197505276 [A/G] NM_001011537,NM_032288,NR_027840 FYTTD1,FYTTD1,FYTTD1 EXON Missense_V241I,Missense_V267I,Silent exm377793 3 197544082 [A/G] NM_032773 LRCH3 EXON Missense_C148Y exm377794 3 197544097 [A/C] NM_032773 LRCH3 EXON Missense_K153T exm377817 3 197556508 [T/C] NM_032773 LRCH3 EXON Missense_P284L exm377824 3 197559159 [A/G] NM_032773 LRCH3 EXON Missense_R358H exm377826 3 197559161 [A/G] NM_032773 LRCH3 EXON Missense_G359S exm377836 3 197566201 [G/C] NM_032773 LRCH3 EXON Missense_V421L exm377838 3 197566214 [T/C] NM_032773 LRCH3 EXON Missense_A425V exm377839 3 197566233 [A/C] NM_032773 LRCH3 EXON Missense_K431N exm377840 3 197566245 [A/G] NM_032773 LRCH3 EXON Missense_M435I exm377841 3 197566250 [A/G] NM_032773 LRCH3 EXON Missense_R437K exm377849 3 197574789 [T/A] NM_032773 LRCH3 EXON Missense_V476E exm377854 3 197574881 [A/G] NM_032773 LRCH3 EXON Missense_D507N exm377860 3 197579466 [T/C] NM_032773 LRCH3 EXON Missense_P522L exm2255937 3 197581268 [T/C] NM_032773 LRCH3 EXON Synonymous_P532P exm377862 3 197581268 [T/C] NM_032773 LRCH3 EXON Synonymous_P532P exm377873 3 197593036 [T/C] NM_032773 LRCH3 EXON Nonsense_Q607X exm2273992 3 197593040 [A/G] NM_032773 LRCH3 EXON Missense_R608H exm2048480 3 197597101 [A/T] NM_032773 LRCH3 EXON Missense_N648K exm377881 3 197597144 [T/C] NM_032773 LRCH3 EXON Missense_R663C exm377883 3 197598208 [T/C] NM_032773 LRCH3 EXON Missense_R669W exm377893 3 197616551 [T/C] NM_001134435,NM_032263 IQCG,IQCG EXON Missense_R411K,Missense_R411K exm2048490 3 197619527 [A/G] NM_001134435,NM_032263 IQCG,IQCG EXON Missense_L356S,Missense_L356S exm377904 3 197619588 [T/C] NM_001134435,NM_032263 IQCG,IQCG EXON Missense_K336E,Missense_K336E exm2265655 3 197624444 [A/G] NM_001134435,NM_032263 IQCG,IQCG Silent,Silent exm377908 3 197639571 [T/G] NM_001134435,NM_032263 IQCG,IQCG EXON Missense_E313A,Missense_E313A exm377909 3 197639590 [A/G] NM_001134435,NM_032263 IQCG,IQCG EXON Missense_R307W,Missense_R307W exm377918 3 197652966 [A/C] NM_001134435,NM_032263 IQCG,IQCG EXON Nonsense_G219X,Nonsense_G219X exm377919 3 197659051 [A/G] NM_001134435,NM_032263 IQCG,IQCG EXON Missense_I213T,Missense_I213T exm377931 3 197665491 [T/C] NM_001134435,NM_032263 IQCG,IQCG EXON Missense_D148G,Missense_D148G exm377933 3 197665521 [T/C] NM_001134435,NM_032263 IQCG,IQCG EXON Missense_R138Q,Missense_R138Q exm377934 3 197665522 [A/G] NM_001134435,NM_032263 IQCG,IQCG EXON Missense_R138W,Missense_R138W exm377935 3 197665543 [G/C] NM_001134435,NM_032263 IQCG,IQCG EXON Missense_P131A,Missense_P131A exm377939 3 197665599 [T/G] NM_001134435,NM_032263 IQCG,IQCG EXON Missense_A112D,Missense_A112D exm377940 3 197665603 [T/C] NM_001134435,NM_032263 IQCG,IQCG EXON Missense_M111V,Missense_M111V exm377946 3 197670651 [T/C] NM_001134435,NM_032263 IQCG,IQCG EXON Missense_V94M,Missense_V94M exm2048501 3 197670673 [A/G] NM_001134435,NM_032263 IQCG,IQCG EXON Synonymous_Y86Y,Synonymous_Y86Y exm377948 3 197670681 [T/C] NM_001134435,NM_032263 IQCG,IQCG EXON Missense_V84I,Missense_V84I exm377953 3 197670717 [T/C] NM_001134435,NM_032263 IQCG,IQCG EXON Missense_T72A,Missense_T72A exm377957 3 197670782 [A/G] NM_001134435,NM_032263 IQCG,IQCG EXON Missense_P50L,Missense_P50L exm377960 3 197670824 [T/C] NM_001134435,NM_032263 IQCG,IQCG EXON Missense_G36E,Missense_G36E exm377961 3 197670837 [T/C] NM_001134435,NM_032263 IQCG,IQCG EXON Missense_V32I,Missense_V32I exm377962 3 197670846 [A/G] NM_001134435,NM_032263 IQCG,IQCG EXON Missense_P29S,Missense_P29S exm377987 3 197687102 [A/G] NM_033029,NR_026787,NM_001136049,NR_026786 LMLN,LMLN,LMLN,LMLN EXON Missense_T4A,Silent,Missense_T4A,Silent exm377998 3 197687180 [G/C] NM_033029,NR_026787,NM_001136049,NR_026786 LMLN,LMLN,LMLN,LMLN EXON Missense_R30G,Silent,Missense_R30G,Silent exm378001 3 197687252 [A/C] NM_033029,NR_026787,NM_001136049,NR_026786 LMLN,LMLN,LMLN,LMLN EXON Missense_T54P,Silent,Missense_T54P,Silent exm378006 3 197701913 [T/G] NM_033029,NR_026787,NM_001136049,NR_026786 LMLN,LMLN,LMLN,LMLN EXON Missense_E106D,Silent,Missense_E106D,Silent exm378185 4 86089 [A/G] NM_182524,NM_001039127 ZNF595,ZNF718 EXON Missense_R231K,Silent exm378199 4 86137 [A/G] NM_182524,NM_001039127 ZNF595,ZNF718 EXON Missense_K247R,Silent exm378235 4 86738 [A/G] NM_182524,NM_001039127 ZNF595,ZNF718 EXON Synonymous_G447G,Silent exm378258 4 87277 [G/C] NM_182524,NM_001039127 ZNF595,ZNF718 EXON Missense_G627A,Silent exm378260 4 87300 [A/T] NM_182524,NM_001039127 ZNF595,ZNF718 EXON Missense_T635S,Silent exm378292 4 154839 [A/C] NM_001039127 ZNF718 EXON Missense_K122Q exm378296 4 154894 [A/G] NM_001039127 ZNF718 EXON Missense_K140R exm378320 4 155415 [A/G] NM_001039127 ZNF718 EXON Missense_E314K exm378331 4 155655 [C/G] NM_001039127 ZNF718 EXON Missense_P394A exm378333 4 155675 [A/T] NM_001039127 ZNF718 EXON Nonsense_C400X exm378364 4 265547 [A/G] NM_001137608 ZNF732 EXON Missense_C366R exm378379 4 265955 [T/C] NM_001137608 ZNF732 EXON Missense_I230V exm378386 4 266147 [T/C] NM_001137608 ZNF732 EXON Missense_K166E exm378388 4 266170 [T/C] NM_001137608 ZNF732 EXON Missense_R158H exm378389 4 266171 [A/G] NM_001137608 ZNF732 EXON Missense_R158C exm378391 4 289251 [A/G] NM_001137608 ZNF732 EXON Missense_H67Y exm378393 4 289272 [T/C] NM_001137608 ZNF732 EXON Missense_E60K exm378414 4 337587 [A/G] NM_003441 ZNF141 EXON Missense_R7K exm2240926 4 337598 [A/G] NM_003441 ZNF141 EXON Missense_I11V exm378419 4 338129 [A/G] NM_003441 ZNF141 EXON Missense_A46T exm378449 4 366585 [T/G] NM_003441 ZNF141 EXON Missense_L120W exm378451 4 366596 [A/G] NM_003441 ZNF141 EXON Missense_K124E exm378453 4 366713 [T/C] NM_003441 ZNF141 EXON Missense_R163C exm378455 4 366719 [A/G] NM_003441 ZNF141 EXON Missense_T165A exm378471 4 367142 [A/G] NM_003441 ZNF141 EXON Missense_T306A exm378508 4 435522 [T/C] NR_002451,NM_133474 ABCA11P,ZNF721 EXON Silent,Missense_K912E exm378546 4 436269 [G/C] NR_002451,NM_133474 ABCA11P,ZNF721 EXON Silent,Missense_L663V exm378547 4 436296 [T/C] NR_002451,NM_133474 ABCA11P,ZNF721 EXON Silent,Missense_T654A exm378549 4 436313 [T/C] NR_002451,NM_133474 ABCA11P,ZNF721 EXON Silent,Missense_K648R exm378550 4 436322 [T/A] NR_002451,NM_133474 ABCA11P,ZNF721 EXON Silent,Missense_E645V exm378593 4 437081 [T/C] NR_002451,NM_133474 ABCA11P,ZNF721 EXON Silent,Missense_E392G exm378596 4 437166 [T/C] NR_002451,NM_133474 ABCA11P,ZNF721 EXON Silent,Missense_E364K exm378632 4 437720 [T/G] NR_002451,NM_133474 ABCA11P,ZNF721 EXON Silent,Missense_N179T exm378647 4 437930 [A/C] NR_002451,NM_133474 ABCA11P,ZNF721 EXON Silent,Missense_F109C exm378651 4 437999 [T/C] NR_002451,NM_133474 ABCA11P,ZNF721 EXON Silent,Missense_R86H exm378654 4 438030 [T/C] NR_002451,NM_133474 ABCA11P,ZNF721 EXON Silent,Missense_T76A exm378657 4 438080 [A/C] NR_002451,NM_133474 ABCA11P,ZNF721 EXON Silent,Missense_C59F exm2075464 4 493147 [T/C] NM_133474,NM_017733,NM_001127178 ZNF721,PIGG,PIGG EXON Silent,Missense_F8S,Missense_F8S exm378665 4 493148 [C/G] NM_133474,NM_017733,NM_001127178 ZNF721,PIGG,PIGG EXON Silent,Missense_F8L,Missense_F8L exm378666 4 493156 [T/G] NM_133474,NM_017733,NM_001127178 ZNF721,PIGG,PIGG EXON Silent,Missense_C11F,Missense_C11F exm378672 4 494188 [A/C] NM_017733,NM_001127178 PIGG,PIGG EXON Missense_A53D,Missense_A53D exm378673 4 494194 [A/C] NM_017733,NM_001127178 PIGG,PIGG EXON Missense_S55Y,Missense_S55Y exm378683 4 499568 [T/C] NM_017733,NM_001127178 PIGG,PIGG EXON Missense_A141V,Missense_A141V exm378687 4 501212 [A/G] NM_017733,NM_001127178 PIGG,PIGG EXON Missense_R197G,Missense_R197G exm378691 4 501347 [A/G] NM_017733,NM_001127178 PIGG,PIGG EXON Missense_V242M,Missense_V242M exm378706 4 509858 [A/G] NM_017733,NM_001127178 PIGG,PIGG EXON Missense_S333N,Missense_S333N exm378725 4 515456 [T/C] NM_017733,NM_001127178 PIGG,PIGG EXON Missense_T439I,Missense_T447I exm378730 4 515488 [T/C] NM_017733,NM_001127178 PIGG,PIGG EXON Missense_R450C,Missense_R458C exm378731 4 515489 [A/G] NM_017733,NM_001127178 PIGG,PIGG EXON Missense_R450H,Missense_R458H exm378732 4 515503 [G/C] NM_017733,NM_001127178 PIGG,PIGG EXON Missense_L455V,Missense_L463V exm378735 4 515567 [T/C] NM_017733,NM_001127178 PIGG,PIGG EXON Missense_S476L,Missense_S484L exm378738 4 515631 [A/G] NM_017733,NM_001127178 PIGG,PIGG EXON Nonsense_W497X,Nonsense_W505X exm378739 4 515636 [T/C] NM_017733,NM_001127178 PIGG,PIGG EXON Missense_A499V,Missense_A507V exm378743 4 515677 [A/G] NM_017733,NM_001127178 PIGG,PIGG EXON Missense_V513M,Missense_V521M exm378747 4 515707 [A/G] NM_017733,NM_001127178 PIGG,PIGG EXON Missense_V523M,Missense_V531M exm378751 4 517261 [C/G] NM_017733,NM_001127178 PIGG,PIGG EXON Missense_P535R,Missense_P543R exm378755 4 517332 [A/G] NM_017733,NM_001127178 PIGG,PIGG EXON Missense_A559T,Missense_A567T exm378762 4 517461 [T/C] NM_017733,NM_001127178 PIGG,PIGG EXON Missense_C602R,Missense_C610R exm378765 4 517495 [T/C] NM_017733,NM_001127178 PIGG,PIGG EXON Missense_A613V,Missense_A621V exm378772 4 517563 [A/G] NM_017733,NM_001127178 PIGG,PIGG EXON Missense_E636K,Missense_E644K exm378774 4 517581 [A/G] NM_017733,NM_001127178 PIGG,PIGG EXON Missense_E642K,Missense_E650K exm378775 4 517600 [T/C] NM_017733,NM_001127178 PIGG,PIGG EXON Missense_A648V,Missense_A656V exm378778 4 517639 [A/G] NM_017733,NM_001127178 PIGG,PIGG EXON Missense_R661H,Missense_R669H exm378780 4 517686 [A/G] NM_017733,NM_001127178 PIGG,PIGG EXON Missense_G677S,Missense_G685S exm378783 4 520844 [A/G] NM_017733,NM_001127178 PIGG,PIGG EXON Missense_E688K,Missense_E696K exm378784 4 520853 [A/G] NM_017733,NM_001127178 PIGG,PIGG EXON Missense_V691I,Missense_V699I exm2075528 4 520908 [A/C] NM_017733,NM_001127178 PIGG,PIGG EXON Missense_S709Y,Missense_S717Y exm378790 4 520962 [A/G] NM_017733,NM_001127178 PIGG,PIGG EXON Missense_R727Q,Missense_R735Q exm378792 4 520973 [A/G] NM_017733,NM_001127178 PIGG,PIGG EXON Missense_G731R,Missense_G739R exm2075532 4 524242 [A/G] NM_017733,NM_001127178 PIGG,PIGG EXON Missense_R752H,Missense_R760H exm378808 4 524475 [A/G] NM_017733,NM_001127178 PIGG,PIGG EXON Missense_D830N,Missense_D838N exm378810 4 524515 [A/C] NM_017733,NM_001127178 PIGG,PIGG EXON Missense_Q843P,Missense_Q851P exm378816 4 527677 [T/C] NM_017733,NM_001127178 PIGG,PIGG EXON Missense_I873T,Missense_I881T exm378823 4 533001 [T/C] NM_017733,NM_001127178 PIGG,PIGG EXON Missense_F924S,Missense_F932S exm2075658 4 533097 [T/C] NM_017733,NM_001127178 PIGG,PIGG EXON Missense_I956T,Missense_I964T exm378828 4 619440 [T/C] NM_000283,NM_001145291 PDE6B,PDE6B EXON Missense_R9W,Missense_R9W exm378829 4 619441 [A/G] NM_000283,NM_001145291 PDE6B,PDE6B EXON Missense_R9Q,Missense_R9Q exm378832 4 619516 [T/C] NM_000283,NM_001145291 PDE6B,PDE6B EXON Missense_A34V,Missense_A34V exm378843 4 619560 [T/G] NM_000283,NM_001145291 PDE6B,PDE6B EXON Missense_D49Y,Missense_D49Y exm378848 4 619635 [T/C] NM_000283,NM_001145291 PDE6B,PDE6B EXON Missense_R74C,Missense_R74C exm378856 4 619758 [C/G] NM_000283,NM_001145291 PDE6B,PDE6B EXON Missense_P115A,Missense_P115A exm378858 4 619788 [C/G] NM_000283,NM_001145291 PDE6B,PDE6B EXON Missense_P125A,Missense_P125A exm378871 4 628493 [A/G] NM_000283,NM_001145291 PDE6B,PDE6B EXON Missense_E166K,Missense_E166K exm2076878 4 628589 [A/G] NM_000283,NM_001145291 PDE6B,PDE6B EXON Missense_G198S,Missense_G198S exm378883 4 629702 [T/C] NM_000283,NM_001145291 PDE6B,PDE6B EXON Missense_Y219H,Missense_Y219H exm2076910 4 629741 [A/G] NM_000283,NM_001145291 PDE6B,PDE6B EXON Missense_E232K,Missense_E232K exm378886 4 629753 [A/G] NM_000283,NM_001145291 PDE6B,PDE6B EXON Missense_G236S,Missense_G236S exm378897 4 647723 [A/G] NM_000283,NM_001145291,NM_001145292 PDE6B,PDE6B,PDE6B EXON Missense_R265Q,Missense_R265Q,Silent exm2256676 4 647889 [T/C] NM_000283,NM_001145291,NM_001145292 PDE6B,PDE6B,PDE6B EXON Synonymous_S291S,Synonymous_S291S,Synonymous_S12S exm378909 4 647921 [A/G] NM_000283,NM_001145291,NM_001145292 PDE6B,PDE6B,PDE6B EXON Missense_G302D,Missense_G302D,Missense_G23D exm378912 4 647942 [A/G] NM_000283,NM_001145291,NM_001145292 PDE6B,PDE6B,PDE6B EXON Missense_R309Q,Missense_R309Q,Missense_R30Q exm378914 4 648643 [A/G] NM_000283,NM_001145291,NM_001145292 PDE6B,PDE6B,PDE6B EXON Missense_V320I,Missense_V320I,Missense_V41I exm2077005 4 648652 [A/G] NM_000283,NM_001145291,NM_001145292 PDE6B,PDE6B,PDE6B EXON Missense_G323S,Missense_G323S,Missense_G44S exm2077066 4 652751 [T/C] NM_000283,NM_001145291,NM_001145292 PDE6B,PDE6B,PDE6B EXON Missense_A471V,Missense_A471V,Missense_A192V exm378964 4 654285 [T/G] NM_000283,NM_001145291,NM_001145292 PDE6B,PDE6B,PDE6B EXON Missense_F499L,Missense_F499L,Missense_F220L exm378970 4 654380 [A/G] NM_000283,NM_001145291,NM_001145292 PDE6B,PDE6B,PDE6B EXON Missense_R531Q,Missense_R531Q,Missense_R252Q exm378973 4 655933 [A/G] NM_000283,NM_001145291,NM_001145292 PDE6B,PDE6B,PDE6B EXON Missense_R542Q,Missense_R542Q,Missense_R263Q exm379001 4 657979 [A/T] NM_000283,NM_001145291,NM_001145292 PDE6B,PDE6B,PDE6B EXON Missense_S700T,Missense_S700T,Missense_S421T exm2241164 4 657980 [T/C] NM_000283,NM_001145291,NM_001145292 PDE6B,PDE6B,PDE6B EXON Missense_S700F,Missense_S700F,Missense_S421F exm379019 4 660377 [A/G] NM_000283,NM_001145291,NM_001145292 PDE6B,PDE6B,PDE6B EXON Missense_D776N,Missense_D776N,Missense_D497N exm379023 4 661663 [A/G] NM_000283,NM_001145291,NM_001145292 PDE6B,PDE6B,PDE6B EXON Missense_E791K,Missense_E791K,Missense_E512K exm379026 4 661762 [A/G] NM_000283,NM_001145291,NM_001145292 PDE6B,PDE6B,PDE6B EXON Missense_K824E,Missense_K824E,Missense_K545E exm379027 4 663836 [A/G] NM_000283,NM_001145291,NM_001145292 PDE6B,PDE6B,PDE6B EXON Synonymous_V835V,Silent,Synonymous_V556V exm379042 4 667134 [T/G] NR_033743,NM_007100 ATP5I,ATP5I EXON Silent,Missense_K50Q exm379044 4 667173 [T/C] NR_033743,NM_007100 ATP5I,ATP5I EXON Silent,Missense_A37T exm379055 4 668009 [A/G] NR_033743,NM_007100 ATP5I,ATP5I EXON Silent,Missense_L10F exm379068 4 672459 [A/G] NM_002477 MYL5 EXON Missense_T6A exm379071 4 672486 [T/C] NM_002477 MYL5 EXON Missense_R15W exm379078 4 673702 [A/G] NM_002477 MYL5 Silent exm379088 4 673772 [T/C] NM_002477 MYL5 EXON Missense_T86I exm379089 4 673778 [T/C] NM_002477 MYL5 EXON Missense_F88S exm379091 4 673807 [A/G] NM_002477 MYL5 EXON Missense_G98S exm379096-other 4 674299 [T/G] NM_002477 MYL5 EXON Synonymous_G98G exm379096 4 674299 [T/G] NM_002477 MYL5 EXON Synonymous_G98G exm379099 4 674328 [T/C] NM_002477 MYL5 EXON Missense_A108V exm379100 4 674336 [A/C] NM_002477 MYL5 EXON Missense_M111L exm379101 4 674355 [A/C] NM_002477 MYL5 EXON Missense_K117T exm2077274 4 674892 [T/C] NM_002477 MYL5 EXON Missense_L128P exm379105 4 675682 [A/G] NM_002477,NM_032219 MYL5,MFSD7 EXON Missense_V141M,Silent exm379108 4 675710 [T/C] NM_002477,NM_032219 MYL5,MFSD7 EXON Missense_I150T,Silent exm2256686 4 675720 [A/G] NM_002477,NM_032219 MYL5,MFSD7 EXON Synonymous_A153A,Silent exm379117 4 675772 [A/G] NM_002477,NM_032219 MYL5,MFSD7 EXON Missense_K171E,Missense_F552S exm379118 4 675777 [C/G] NM_002477,NM_032219 MYL5,MFSD7 EXON Missense_E172D,Synonymous_S550S exm379136 4 676125 [C/G] NM_032219 MFSD7 EXON Missense_S434R exm379141 4 676617 [A/G] NM_032219 MFSD7 EXON Missense_P405L exm379151 4 677039 [T/C] NM_032219 MFSD7 EXON Missense_V371M exm379152 4 677059 [A/G] NM_032219 MFSD7 EXON Missense_A364V exm379154 4 677132 [C/G] NM_032219 MFSD7 EXON Missense_L340V exm379158 4 677471 [T/C] NM_032219 MFSD7 EXON Missense_R307Q exm379165 4 678283 [G/C] NM_032219 MFSD7 EXON Missense_G277R exm379166 4 678295 [A/G] NM_032219 MFSD7 EXON Missense_L273F exm379186 4 679662 [C/G] NM_032219 MFSD7 EXON Missense_P183A exm379192 4 679896 [T/C] NM_032219 MFSD7 EXON Missense_N164D exm379195 4 680001 [A/G] NM_032219 MFSD7 EXON Missense_L129F exm379204 4 680328 [T/C] NM_032219 MFSD7 EXON Missense_R96H exm2265658 4 689743 [A/G] exm379218 4 727522 [A/G] NM_006315 PCGF3 EXON Missense_R18H exm379249 4 737321 [A/C] NM_006315 PCGF3 EXON Missense_I108L exm379251 4 737366 [T/C] NM_006315 PCGF3 EXON Missense_R123W exm379252 4 737371 [T/C] NM_006315 PCGF3 EXON Synonymous_N124N exm2269707 4 809787 [T/C] NM_006651 CPLX1 Silent exm379300 4 843498 [A/G] NM_005255 GAK EXON Missense_S1300L exm379302 4 843508 [T/C] NM_005255 GAK EXON Missense_D1297N exm2080762 4 843558 [A/G] NM_005255 GAK EXON Missense_A1280V exm379319 4 843720 [T/C] NM_005255 GAK EXON Missense_K1265R exm379323 4 843765 [A/G] NM_005255 GAK EXON Missense_T1250M exm379330 4 844728 [A/C] NM_005255 GAK EXON Missense_L1218R exm2256757 4 844834 [A/G] NM_005255 GAK EXON Synonymous_L1183L exm379343 4 845543 [T/C] NM_005255 GAK EXON Missense_S1168N exm379347 4 845568 [C/G] NM_005255 GAK EXON Missense_E1160Q exm379351 4 845648 [A/G] NM_005255 GAK EXON Missense_P1133L exm379354 4 845678 [T/C] NM_005255 GAK EXON Missense_R1123Q exm379355 4 845686 [C/G] NM_005255 GAK EXON Missense_Q1120H exm379356 4 845708 [A/G] NM_005255 GAK EXON Missense_P1113L exm379357 4 845720 [A/G] NM_005255 GAK EXON Missense_T1109M exm-rs1564282 4 852313 [T/C] NM_005255 GAK Silent exm379368 4 853438 [A/G] NM_005255 GAK EXON Missense_P1080L exm379369 4 853444 [T/G] NM_005255 GAK EXON Missense_Q1078P exm-rs11248051 4 858332 [T/C] NM_005255 GAK Silent exm379374 4 858924 [A/G] NM_005255 GAK EXON Missense_T1051M exm379387 4 860205 [A/G] NM_005255 GAK EXON Missense_P997L exm2081147 4 860238 [T/C] NM_005255 GAK EXON Missense_N986S exm379390 4 860248 [T/C] NM_005255 GAK EXON Missense_E983K exm379392 4 860298 [A/G] NM_005255 GAK EXON Missense_P966L exm379399 4 860768 [C/G] NM_005255 GAK EXON Missense_P950A exm379415 4 860986 [T/C] NM_005255 GAK EXON Missense_Q877R exm379431 4 861143 [T/C] NM_005255 GAK EXON Missense_E825K exm379432 4 861170 [T/C] NM_005255 GAK EXON Missense_E816K exm379442 4 862363 [A/C] NM_005255 GAK EXON Missense_D787Y exm379445 4 862366 [T/C] NM_005255 GAK EXON Missense_A786T exm379456 4 864532 [A/G] NM_005255 GAK EXON Missense_R739W exm379458 4 864589 [A/G] NM_005255 GAK EXON Missense_P720S exm379460 4 864597 [T/C] NM_005255 GAK EXON Missense_R717Q exm379467 4 864655 [A/G] NM_005255 GAK EXON Missense_P698S exm379472 4 870891 [T/C] NM_005255 GAK EXON Missense_R654Q exm379476 4 870925 [T/C] NM_005255 GAK EXON Missense_V643I exm2256768 4 870941 [T/C] NM_005255 GAK EXON Synonymous_Q637Q exm379481 4 870955 [G/C] NM_005255 GAK EXON Missense_G633R exm2081314 4 870967 [T/C] NM_005255 GAK EXON Missense_V629M exm379488 4 871452 [T/C] NM_005255 GAK EXON Missense_V603M exm379526 4 877125 [T/C] NM_005255 GAK EXON Missense_R461Q exm379528 4 877153 [T/C] NM_005255 GAK EXON Missense_V452I exm379538 4 877843 [T/C] NM_005255 GAK EXON Missense_I413V exm379544 4 882639 [T/C] NM_005255 GAK EXON Missense_A401T exm379552 4 882746 [A/G] NM_005255 GAK EXON Missense_A365V exm379567 4 887276 [A/G] NM_005255 GAK EXON Synonymous_R293R exm379570 4 887698 [A/G] NM_005255 GAK EXON Missense_H281Y exm379592 4 898459 [T/C] NM_005255 GAK EXON Missense_R164Q exm379601 4 905524 [T/C] NM_005255 GAK EXON Missense_I107V exm-rs6599389 4 939113 [A/G] NM_032326 TMEM175 Silent exm379625 4 941940 [C/G] NM_032326 TMEM175 EXON Missense_Q64E exm379630 4 944210 [A/C] NM_032326 TMEM175 EXON Missense_Q65P exm379632 4 944249 [T/C] NM_032326 TMEM175 EXON Missense_I78T exm379634 4 944260 [G/C] NM_032326 TMEM175 EXON Missense_L82V exm379636 4 944278 [A/G] NM_032326 TMEM175 EXON Missense_V88M exm379639 4 945042 [A/C] NM_032326 TMEM175 EXON Missense_N113T exm379648 4 946221 [A/G] NM_032326 TMEM175 EXON Missense_A149T exm379651 4 946233 [A/G] NM_032326 TMEM175 EXON Missense_V153M exm379658 4 947024 [T/C] NM_032326 TMEM175 EXON Missense_P170L exm379659 4 947035 [T/C] NM_032326 TMEM175 EXON Missense_R174C exm379666 4 949214 [A/G] NM_032326 TMEM175 EXON Missense_V217I exm379668 4 949223 [T/C] NM_032326 TMEM175 EXON Missense_L220F exm379669 4 949230 [A/G] NM_032326 TMEM175 EXON Missense_Y222C exm379682 4 951619 [A/G] NM_032326 TMEM175 EXON Missense_N284D exm379683 4 951622 [A/G] NM_032326 TMEM175 EXON Missense_V285I exm379684 4 951623 [T/C] NM_032326 TMEM175 EXON Missense_V285A exm379688 4 951667 [A/G] NM_032326 TMEM175 EXON Missense_V300M exm379691 4 951682 [A/G] NM_032326 TMEM175 EXON Missense_A305T exm379693 4 951688 [A/G] NM_032326 TMEM175 EXON Missense_G307R exm379697 4 951721 [A/G] NM_032326 TMEM175 EXON Missense_A318T exm379699 4 951746 [C/G] NM_032326 TMEM175 EXON Missense_A326G exm379701 4 951773 [A/G] NM_032326 TMEM175 EXON Missense_R335H exm379713 4 951880 [T/G] NM_032326 TMEM175 EXON Missense_D371Y exm379723 4 951982 [G/C] NM_032326 TMEM175 EXON Missense_L405V exm379726 4 952009 [T/C] NM_032326 TMEM175 EXON Missense_R414W exm379754 4 954422 [T/C] NM_001347 DGKQ EXON Missense_S939G exm379756 4 954449 [A/G] NM_001347 DGKQ EXON Missense_R930W exm379762 4 954881 [C/G] NM_001347 DGKQ EXON Missense_V895L exm379765 4 954907 [A/G] NM_001347 DGKQ EXON Missense_P886L exm379775 4 955263 [T/C] NM_001347 DGKQ EXON Missense_V856M exm379803 4 956237 [T/C] NM_001347 DGKQ EXON Missense_A734T exm2256798 4 956280 [T/C] NM_001347 DGKQ EXON Synonymous_L719L exm379811 4 956280 [T/C] NM_001347 DGKQ EXON Synonymous_L719L exm2082523 4 956339 [C/G] NM_001347 DGKQ EXON Missense_V700L exm379816 4 956368 [A/G] NM_001347 DGKQ EXON Missense_A690V exm379826 4 956707 [A/G] NM_001347 DGKQ EXON Missense_L630F exm379836 4 958972 [T/C] NM_001347 DGKQ EXON Missense_D576N exm379838 4 959002 [A/C] NM_001347 DGKQ EXON Missense_G566C exm2241466 4 959764 [A/G] NM_001347 DGKQ EXON Missense_S511P exm379859 4 959770 [T/C] NM_001347 DGKQ EXON Missense_G509S exm379864 4 959830 [T/C] NM_001347 DGKQ EXON Missense_V489M exm379881 4 960553 [A/G] NM_001347 DGKQ EXON Missense_A450V exm379883 4 960590 [T/C] NM_001347 DGKQ EXON Missense_A438T exm2256799 4 960794 [A/G] NM_001347 DGKQ EXON Synonymous_A423A exm379895 4 960996 [T/C] NM_001347 DGKQ EXON Missense_E381K exm379901 4 961122 [T/G] NM_001347 DGKQ EXON Missense_P339T exm379906 4 961362 [T/C] NM_001347 DGKQ EXON Missense_R321H exm379927 4 962141 [C/G] NM_001347 DGKQ EXON Missense_E198Q exm379937 4 962613 [A/G] NM_001347 DGKQ EXON Missense_A146V exm-rs11248060 4 964359 [T/C] NM_001347 DGKQ Silent exm379966 4 981602 [T/C] NM_134425,NM_000203,NM_022042,NM_213613 SLC26A1,IDUA,SLC26A1,SLC26A1 EXON Silent,Missense_P55L,Silent,Silent exm379968 4 981646 [T/C] NM_134425,NM_000203,NM_022042,NM_213613 SLC26A1,IDUA,SLC26A1,SLC26A1 EXON Silent,Nonsense_Q70X,Silent,Silent exm379970 4 981673 [A/G] NM_134425,NM_000203,NM_022042,NM_213613 SLC26A1,IDUA,SLC26A1,SLC26A1 EXON Silent,Missense_A79T,Silent,Silent exm379972 4 981684 [C/G] NM_134425,NM_000203,NM_022042,NM_213613 SLC26A1,IDUA,SLC26A1,SLC26A1 EXON Silent,Missense_H82Q,Silent,Silent exm379977 4 981734 [T/C] NM_134425,NM_000203,NM_022042,NM_213613 SLC26A1,IDUA,SLC26A1,SLC26A1 EXON Silent,Missense_T99I,Silent,Silent exm379978 4 981736 [A/G] NM_134425,NM_000203,NM_022042,NM_213613 SLC26A1,IDUA,SLC26A1,SLC26A1 EXON Silent,Missense_R100G,Silent,Silent exm2082702 4 982718 [A/G] NM_134425,NM_000203,NM_022042,NM_213613 SLC26A1,IDUA,SLC26A1,SLC26A1 EXON Silent,Silent,Missense_T670M,Missense_T670M exm379989 4 982725 [T/C] NM_134425,NM_000203,NM_022042,NM_213613 SLC26A1,IDUA,SLC26A1,SLC26A1 EXON Silent,Silent,Missense_G668R,Missense_G668R exm379995 4 982821 [A/C] NM_134425,NM_000203,NM_022042,NM_213613 SLC26A1,IDUA,SLC26A1,SLC26A1 EXON Silent,Silent,Missense_D636Y,Missense_D636Y exm2241478 4 982826 [T/C] NM_134425,NM_000203,NM_022042,NM_213613 SLC26A1,IDUA,SLC26A1,SLC26A1 EXON Silent,Silent,Missense_R634H,Missense_R634H exm2082712 4 983042 [A/G] NM_134425,NM_000203,NM_022042,NM_213613 SLC26A1,IDUA,SLC26A1,SLC26A1 EXON Silent,Silent,Missense_T562M,Missense_T562M exm2082715 4 983115 [A/G] NM_134425,NM_000203,NM_022042,NM_213613 SLC26A1,IDUA,SLC26A1,SLC26A1 EXON Silent,Silent,Missense_R538W,Missense_R538W exm380021 4 983178 [T/C] NM_134425,NM_000203,NM_022042,NM_213613 SLC26A1,IDUA,SLC26A1,SLC26A1 EXON Silent,Silent,Missense_G517R,Missense_G517R exm380032 4 983394 [T/C] NM_134425,NM_000203,NM_022042,NM_213613 SLC26A1,IDUA,SLC26A1,SLC26A1 EXON Silent,Silent,Missense_V445I,Missense_V445I exm380036 4 983441 [A/G] NM_134425,NM_000203,NM_022042,NM_213613 SLC26A1,IDUA,SLC26A1,SLC26A1 EXON Silent,Silent,Missense_A429V,Missense_A429V exm380045 4 983574 [T/C] NM_134425,NM_000203,NM_022042,NM_213613 SLC26A1,IDUA,SLC26A1,SLC26A1 EXON Silent,Silent,Missense_V385M,Missense_V385M exm380047 4 983612 [T/C] NM_134425,NM_000203,NM_022042,NM_213613 SLC26A1,IDUA,SLC26A1,SLC26A1 EXON Silent,Silent,Missense_R372H,Missense_R372H exm380049 4 983625 [T/C] NM_134425,NM_000203,NM_022042,NM_213613 SLC26A1,IDUA,SLC26A1,SLC26A1 EXON Silent,Silent,Missense_G368S,Missense_G368S exm380051 4 983654 [A/G] NM_134425,NM_000203,NM_022042,NM_213613 SLC26A1,IDUA,SLC26A1,SLC26A1 EXON Silent,Silent,Missense_S358L,Missense_S358L exm380055 4 983684 [A/G] NM_134425,NM_000203,NM_022042,NM_213613 SLC26A1,IDUA,SLC26A1,SLC26A1 EXON Silent,Silent,Missense_L348P,Missense_L348P exm380056 4 983723 [A/G] NM_134425,NM_000203,NM_022042,NM_213613 SLC26A1,IDUA,SLC26A1,SLC26A1 EXON Silent,Silent,Missense_P335L,Missense_P335L exm380061 4 983786 [T/C] NM_134425,NM_000203,NM_022042,NM_213613 SLC26A1,IDUA,SLC26A1,SLC26A1 EXON Silent,Silent,Missense_R314H,Missense_R314H exm2082726 4 983859 [T/C] NM_134425,NM_000203,NM_022042,NM_213613 SLC26A1,IDUA,SLC26A1,SLC26A1 EXON Silent,Silent,Missense_V290M,Missense_V290M exm380065 4 983868 [A/G] NM_134425,NM_000203,NM_022042,NM_213613 SLC26A1,IDUA,SLC26A1,SLC26A1 EXON Silent,Silent,Missense_R287C,Missense_R287C exm380067 4 983898 [T/C] NM_134425,NM_000203,NM_022042,NM_213613 SLC26A1,IDUA,SLC26A1,SLC26A1 EXON Silent,Silent,Missense_A277T,Missense_A277T exm380077 4 984014 [T/C] NM_134425,NM_000203,NM_022042,NM_213613 SLC26A1,IDUA,SLC26A1,SLC26A1 EXON Silent,Silent,Missense_R238Q,Missense_R238Q exm380091 4 984938 [A/G] NM_134425,NM_000203,NM_022042,NM_213613 SLC26A1,IDUA,SLC26A1,SLC26A1 EXON Missense_T185M,Silent,Missense_T185M,Missense_T185M exm380092 4 984948 [T/C] NM_134425,NM_000203,NM_022042,NM_213613 SLC26A1,IDUA,SLC26A1,SLC26A1 EXON Missense_T182A,Silent,Missense_T182A,Missense_T182A exm380105 4 985076 [T/C] NM_134425,NM_000203,NM_022042,NM_213613 SLC26A1,IDUA,SLC26A1,SLC26A1 EXON Missense_R139Q,Silent,Missense_R139Q,Missense_R139Q exm380107 4 985092 [T/C] NM_134425,NM_000203,NM_022042,NM_213613 SLC26A1,IDUA,SLC26A1,SLC26A1 EXON Missense_G134R,Silent,Missense_G134R,Missense_G134R exm380125 4 985275 [T/C] NM_134425,NM_000203,NM_022042,NM_213613 SLC26A1,IDUA,SLC26A1,SLC26A1 EXON Missense_V73I,Silent,Missense_V73I,Missense_V73I exm380127 4 985295 [T/C] NM_134425,NM_000203,NM_022042,NM_213613 SLC26A1,IDUA,SLC26A1,SLC26A1 EXON Missense_R66Q,Silent,Missense_R66Q,Missense_R66Q exm380128 4 985296 [A/G] NM_134425,NM_000203,NM_022042,NM_213613 SLC26A1,IDUA,SLC26A1,SLC26A1 EXON Missense_R66W,Silent,Missense_R66W,Missense_R66W exm380130 4 985310 [T/C] NM_134425,NM_000203,NM_022042,NM_213613 SLC26A1,IDUA,SLC26A1,SLC26A1 EXON Missense_R61H,Silent,Missense_R61H,Missense_R61H exm380143 4 985418 [T/C] NM_134425,NM_000203,NM_022042,NM_213613 SLC26A1,IDUA,SLC26A1,SLC26A1 EXON Missense_R25Q,Silent,Missense_R25Q,Missense_R25Q exm380152 4 994414 [A/G] NM_000203 IDUA EXON Missense_R105Q exm380153 4 994446 [A/G] NM_000203 IDUA EXON Missense_G116R exm2256813 4 994452 [T/C] NM_000203 IDUA EXON Synonymous_L118L exm380167 4 995256 [A/G] NM_000203 IDUA EXON Missense_G165D exm380181 4 995578 [C/G] NM_000203 IDUA EXON Missense_S234T exm380182 4 995586 [T/C] NM_000203 IDUA EXON Missense_L237F exm380192 4 995664 [A/T] NM_000203 IDUA EXON Missense_R263W exm380193 4 995783 [C/G] NM_000203 IDUA EXON Missense_S269C exm380200 4 995942 [A/T] NM_000203 IDUA EXON Missense_V322E exm380211 4 996165 [A/G] NM_000203 IDUA EXON Missense_A361T exm380218 4 996535 [A/G] NM_000203 IDUA EXON Nonsense_W402X exm380246 4 997829 [T/C] NM_000203 IDUA EXON Missense_S586F exm380247 4 997837 [A/G] NM_000203 IDUA EXON Missense_G589S exm380255 4 998080 [C/G] NM_000203 IDUA EXON Missense_R621G exm380282 4 1016197 [A/G] NM_001004356,NM_001004358,NM_021923 FGFRL1,FGFRL1,FGFRL1 EXON Missense_V96M,Missense_V96M,Missense_V96M exm380295 4 1017613 [T/C] NM_001004356,NM_001004358,NM_021923 FGFRL1,FGFRL1,FGFRL1 EXON Missense_R148C,Missense_R148C,Missense_R148C exm2062670 4 1017712 [A/G] NM_001004356,NM_001004358,NM_021923 FGFRL1,FGFRL1,FGFRL1 EXON Missense_D181N,Missense_D181N,Missense_D181N exm380303 4 1017749 [A/G] NM_001004356,NM_001004358,NM_021923 FGFRL1,FGFRL1,FGFRL1 EXON Missense_R193H,Missense_R193H,Missense_R193H exm2256247 4 1017759 [T/C] NM_001004356,NM_001004358,NM_021923 FGFRL1,FGFRL1,FGFRL1 EXON Synonymous_A196A,Synonymous_A196A,Synonymous_A196A exm380305 4 1017829 [A/C] NM_001004356,NM_001004358,NM_021923 FGFRL1,FGFRL1,FGFRL1 EXON Missense_T220P,Missense_T220P,Missense_T220P exm2256248 4 1018208 [A/G] NM_001004356,NM_001004358,NM_021923 FGFRL1,FGFRL1,FGFRL1 EXON Synonymous_P276P,Synonymous_P276P,Synonymous_P276P exm380320 4 1018245 [A/G] NM_001004356,NM_001004358,NM_021923 FGFRL1,FGFRL1,FGFRL1 EXON Missense_E289K,Missense_E289K,Missense_E289K exm380333 4 1018360 [A/G] NM_001004356,NM_001004358,NM_021923 FGFRL1,FGFRL1,FGFRL1 EXON Missense_R327H,Missense_R327H,Missense_R327H exm380334 4 1018362 [A/G] NM_001004356,NM_001004358,NM_021923 FGFRL1,FGFRL1,FGFRL1 EXON Missense_A328T,Missense_A328T,Missense_A328T exm380347 4 1018705 [A/C] NM_001004356,NM_001004358,NM_021923 FGFRL1,FGFRL1,FGFRL1 EXON Missense_P362Q,Missense_P362Q,Missense_P362Q exm380359 4 1018779 [A/G] NM_001004356,NM_001004358,NM_021923 FGFRL1,FGFRL1,FGFRL1 EXON Missense_A387T,Missense_A387T,Missense_A387T exm380371 4 1018902 [A/G] NM_001004356,NM_001004358,NM_021923 FGFRL1,FGFRL1,FGFRL1 EXON Missense_G428R,Missense_G428R,Missense_G428R exm2062688 4 1019011 [T/C] NM_001004356,NM_001004358,NM_021923 FGFRL1,FGFRL1,FGFRL1 EXON Missense_P464L,Missense_P464L,Missense_P464L exm380390 4 1019077 [C/G] NM_001004356,NM_001004358,NM_021923 FGFRL1,FGFRL1,FGFRL1 EXON Missense_S486C,Missense_S486C,Missense_S486C exm2062689 4 1019094 [A/G] NM_001004356,NM_001004358,NM_021923 FGFRL1,FGFRL1,FGFRL1 EXON Missense_V492M,Missense_V492M,Missense_V492M exm380392 4 1019101 [A/G] NM_001004356,NM_001004358,NM_021923 FGFRL1,FGFRL1,FGFRL1 EXON Missense_G494D,Missense_G494D,Missense_G494D exm380397 4 1066769 [T/C] NM_194439,NM_001131034 RNF212,RNF212 EXON Silent,Missense_V263I exm380399 4 1066814 [T/C] NM_194439,NM_001131034 RNF212,RNF212 EXON Missense_H230R,Missense_T248A exm380400 4 1066818 [T/C] NM_194439,NM_001131034 RNF212,RNF212 EXON Missense_T229A,Synonymous_E246E exm2273994 4 1066824 [A/G] NM_194439,NM_001131034 RNF212,RNF212 EXON Missense_R227W,Synonymous_H244H exm380406 4 1066958 [A/C] NM_194439,NM_001131034 RNF212,RNF212 EXON Silent,Missense_C200G exm380414 4 1073459 [A/C] NM_194439,NM_001131034 RNF212,RNF212 EXON Missense_V161G,Missense_V161G exm380418 4 1075216 [G/C] NM_194439,NM_001131034 RNF212,RNF212 EXON Missense_A152G,Missense_A152G exm2256267 4 1075245 [A/G] NM_194439,NM_001131034 RNF212,RNF212 EXON Synonymous_H142H,Synonymous_H142H exm380424 4 1075407 [A/C] NM_194439,NM_001131034 RNF212,RNF212 EXON Missense_S121R,Missense_S121R exm-rs1670533 4 1078187 [A/G] NM_194439,NM_001131034 RNF212,RNF212 Silent,Silent exm380428 4 1087265 [T/C] NM_194439,NM_001131034,NM_001193318 RNF212,RNF212,RNF212 EXON Silent,Silent,Missense_I262V exm380434 4 1087393 [T/G] NM_194439,NM_001131034,NM_001193318 RNF212,RNF212,RNF212 EXON Silent,Silent,Missense_A219D exm380436 4 1087487 [A/G] NM_194439,NM_001131034,NM_001193318 RNF212,RNF212,RNF212 EXON Silent,Silent,Nonsense_Q188X exm380439 4 1087531 [T/C] NM_194439,NM_001131034,NM_001193318 RNF212,RNF212,RNF212 EXON Silent,Silent,Missense_Q173R exm380441 4 1087772 [A/G] NM_194439,NM_001131034,NM_001193318 RNF212,RNF212,RNF212 EXON Silent,Silent,Missense_L93F exm380448 4 1090592 [T/C] NM_194439,NM_001131034,NM_001193318 RNF212,RNF212,RNF212 EXON Missense_I69M,Missense_I69M,Missense_I69M exm380451 4 1090624 [T/C] NM_194439,NM_001131034,NM_001193318 RNF212,RNF212,RNF212 EXON Missense_D59N,Missense_D59N,Missense_D59N exm-rs3796619 4 1095281 [A/G] NM_194439,NM_001131034,NM_001193318 RNF212,RNF212,RNF212 Silent,Silent,Silent exm380456 4 1102173 [A/C] NM_194439,NM_001131034,NM_001193318 RNF212,RNF212,RNF212 EXON Missense_L43F,Missense_L43F,Missense_L43F exm380458 4 1107149 [C/G] NM_194439,NM_001131034,NM_001193318 RNF212,RNF212,RNF212 EXON Missense_G35A,Missense_G35A,Missense_G35A exm380464 4 1107245 [T/C] NM_194439,NM_001131034,NM_001193318 RNF212,RNF212,RNF212 EXON Missense_N3S,Missense_N3S,Missense_N3S exm2265814 4 1135350 [A/G] exm380498 4 1164219 [T/C] NM_012445,NM_001199021,NM_001128325 SPON2,SPON2,SPON2 EXON Missense_R261K,Missense_R261K,Missense_R261K exm380501 4 1164277 [C/G] NM_012445,NM_001199021,NM_001128325 SPON2,SPON2,SPON2 EXON Missense_V242L,Missense_V242L,Missense_V242L exm380507 4 1164318 [A/G] NM_012445,NM_001199021,NM_001128325 SPON2,SPON2,SPON2 EXON Missense_P228L,Missense_P228L,Missense_P228L exm380512 4 1164864 [A/G] NM_012445,NM_001199021,NM_001128325 SPON2,SPON2,SPON2 EXON Missense_Y187H,Missense_Y187H,Missense_Y187H exm380523 4 1165174 [T/C] NM_012445,NM_001199021,NM_001128325 SPON2,SPON2,SPON2 EXON Missense_M107I,Missense_M107I,Missense_M107I exm380527 4 1165238 [T/C] NM_012445,NM_001199021,NM_001128325 SPON2,SPON2,SPON2 EXON Missense_K86R,Missense_K86R,Missense_K86R exm380532 4 1165641 [T/C] NM_012445,NM_001199021,NM_001128325 SPON2,SPON2,SPON2 EXON Synonymous_L73L,Synonymous_L73L,Synonymous_L73L exm380538 4 1165741 [A/G] NM_012445,NM_001199021,NM_001128325 SPON2,SPON2,SPON2 EXON Missense_L40P,Missense_L40P,Missense_L40P exm380539 4 1165748 [T/C] NM_012445,NM_001199021,NM_001128325 SPON2,SPON2,SPON2 EXON Missense_R38G,Missense_R38G,Missense_R38G exm380549 4 1206089 [A/G] NM_001328,NM_001012614 CTBP1,CTBP1 EXON Missense_P421L,Missense_P410L exm380559 4 1206732 [A/C] NM_001328,NM_001012614 CTBP1,CTBP1 EXON Missense_V370L,Missense_V359L exm2256344 4 1305802 [T/C] NM_001017405,NM_005882 MAEA,MAEA EXON Synonymous_A35A,Synonymous_A35A exm380697 4 1316230 [A/G] NM_001017405,NM_005882 MAEA,MAEA EXON Missense_R173H,Silent exm380735 4 1341896 [T/C] NM_020894 UVSSA EXON Missense_S6L exm380737 4 1341934 [T/C] NM_020894 UVSSA EXON Nonsense_R19X exm380738 4 1341935 [A/G] NM_020894 UVSSA EXON Missense_R19Q exm380740 4 1343314 [T/C] NM_020894 UVSSA EXON Missense_S34F exm380743 4 1343341 [A/G] NM_020894 UVSSA EXON Missense_Y43C exm380751 4 1343418 [T/G] NM_020894 UVSSA EXON Missense_F69V exm380762 4 1343547 [A/G] NM_020894 UVSSA EXON Missense_A112T exm380764 4 1343556 [T/C] NM_020894 UVSSA EXON Missense_R115W exm380773 4 1345557 [A/G] NM_020894 UVSSA EXON Missense_E162K exm380781 4 1346848 [T/C] NM_020894 UVSSA EXON Missense_T194M exm380784 4 1346880 [A/C] NM_020894 UVSSA EXON Missense_P205T exm380789 4 1346908 [T/C] NM_020894 UVSSA EXON Missense_T214M exm380796 4 1346974 [C/G] NM_020894 UVSSA EXON Missense_G236A exm380798 4 1347003 [T/C] NM_020894 UVSSA EXON Missense_R246W exm2066015 4 1347004 [A/G] NM_020894 UVSSA EXON Missense_R246Q exm380807 4 1347135 [A/G] NM_020894 UVSSA EXON Missense_E290K exm380808 4 1347144 [A/G] NM_020894 UVSSA EXON Missense_V293M exm2066022 4 1348573 [T/G] NM_020894 UVSSA EXON Missense_A329S exm380819 4 1348576 [T/C] NM_020894 UVSSA EXON Missense_R330C exm380820 4 1348577 [A/G] NM_020894 UVSSA EXON Missense_R330H exm380824 4 1348597 [T/C] NM_020894 UVSSA EXON Missense_R337W exm380829 4 1348622 [T/G] NM_020894 UVSSA EXON Missense_C345F exm380834 4 1348920 [A/G] NM_020894 UVSSA EXON Missense_G355R exm380839 4 1348987 [A/G] NM_020894 UVSSA EXON Missense_K377R exm380841 4 1349029 [A/G] NM_020894 UVSSA EXON Missense_R391H exm380849 4 1360207 [T/C] NM_020894 UVSSA EXON Missense_R426W exm-rs13118159 4 1365127 [T/C] NM_020894 UVSSA Silent exm380854 4 1369196 [T/C] NM_020894 UVSSA EXON Missense_R445W exm380855 4 1369206 [T/C] NM_020894 UVSSA EXON Missense_T448M exm380857 4 1369224 [T/G] NM_020894 UVSSA EXON Missense_V454G exm380874 4 1369892 [A/G] NM_020894 UVSSA EXON Missense_V502M exm380881 4 1373896 [A/G] NM_020894 UVSSA EXON Missense_D544N exm380882 4 1373914 [T/C] NM_020894 UVSSA EXON Missense_R550W exm380894 4 1374714 [T/C] NM_020894 UVSSA EXON Missense_P600L exm380895 4 1374723 [T/C] NM_020894 UVSSA EXON Missense_P603L exm380897 4 1374737 [T/C] NM_020894 UVSSA EXON Missense_R608C exm380901 4 1374774 [T/C] NM_020894 UVSSA EXON Missense_P620L exm380918 4 1377724 [A/G] NM_020894 UVSSA EXON Missense_A678T exm380922 4 1379681 [A/G] NM_020894 UVSSA EXON Missense_A688T exm380925 4 1379691 [A/G] NM_020894 UVSSA EXON Missense_R691Q exm380931 4 1388324 [A/C] NM_175918 CRIPAK EXON Missense_N9H exm380984 4 1388615 [T/C] NM_175918 CRIPAK EXON Missense_R106C exm381178 4 1389482 [A/G] NM_175918 CRIPAK EXON Missense_A395T exm381189 4 1389557 [A/G] NM_175918 CRIPAK EXON Missense_V420I exm381193 4 1389588 [A/G] NM_175918 CRIPAK EXON Missense_R430H exm2265659 4 1535004 [A/G] exm381212 4 1643103 [A/G] NM_001174070,NM_001013622 FAM53A,FAM53A EXON Missense_R372C,Missense_R372C exm381216 4 1643123 [T/C] NM_001174070,NM_001013622 FAM53A,FAM53A EXON Missense_R365H,Missense_R365H exm381221 4 1643204 [T/C] NM_001174070,NM_001013622 FAM53A,FAM53A EXON Missense_C338Y,Missense_C338Y exm381222 4 1643268 [C/G] NM_001174070,NM_001013622 FAM53A,FAM53A EXON Missense_V317L,Missense_V317L exm2068908 4 1643304 [A/G] NM_001174070,NM_001013622 FAM53A,FAM53A EXON Missense_L305F,Missense_L305F exm381229 4 1656760 [T/C] NM_001174070,NM_001013622 FAM53A,FAM53A EXON Missense_R276H,Missense_R276H exm381231 4 1656767 [A/G] NM_001174070,NM_001013622 FAM53A,FAM53A EXON Missense_R274W,Missense_R274W exm381233 4 1656776 [G/C] NM_001174070,NM_001013622 FAM53A,FAM53A EXON Missense_R271G,Missense_R271G exm381265 4 1657232 [A/G] NM_001174070,NM_001013622 FAM53A,FAM53A EXON Missense_R119W,Missense_R119W exm381279 4 1659135 [G/C] NM_001174070,NM_001013622 FAM53A,FAM53A EXON Missense_D46H,Missense_D46H exm381280 4 1659137 [T/C] NM_001174070,NM_001013622 FAM53A,FAM53A EXON Missense_N45S,Missense_N45S exm381281 4 1659162 [T/C] NM_001174070,NM_001013622 FAM53A,FAM53A EXON Missense_G37S,Missense_G37S exm381282 4 1659164 [T/C] NM_001174070,NM_001013622 FAM53A,FAM53A EXON Missense_S36N,Missense_S36N exm381284 4 1659182 [A/G] NM_001174070,NM_001013622 FAM53A,FAM53A EXON Missense_A30V,Missense_A30V exm381287 4 1670395 [A/G] NM_001174070,NM_001013622 FAM53A,FAM53A EXON Missense_P25L,Missense_P25L exm381296 4 1695433 [T/C] NM_006527 SLBP EXON Missense_Y235C exm-rs2247341 4 1701317 [A/G] NM_006527 SLBP EXON Synonymous_Y151Y exm381305 4 1701409 [T/C] NM_006527 SLBP EXON Missense_M121V exm381312 4 1705399 [A/G] NM_006527 SLBP EXON Missense_R69C exm2256482 4 1719294 [T/C] NM_138385,NM_001127266 TMEM129,TMEM129 EXON Silent,Synonymous_T263T exm381333 4 1719940 [T/C] NM_138385,NM_001127266 TMEM129,TMEM129 EXON Missense_V207M,Missense_V207M exm2275719 4 1719984 [A/G] NM_138385,NM_001127266 TMEM129,TMEM129 EXON Missense_T192M,Missense_T192M exm381340 4 1720119 [G/C] NM_138385,NM_001127266 TMEM129,TMEM129 EXON Missense_T147S,Missense_T147S exm381349 4 1720225 [A/T] NM_138385,NM_001127266 TMEM129,TMEM129 EXON Missense_Y112N,Missense_Y112N exm381354 4 1720312 [T/G] NM_138385,NM_001127266 TMEM129,TMEM129 EXON Missense_L83I,Missense_L83I exm381362 4 1725159 [A/G] NM_006342 TACC3 EXON Missense_Q4R exm381372 4 1725489 [T/C] NM_006342 TACC3 EXON Missense_T66M exm381374 4 1725546 [A/G] NM_006342 TACC3 EXON Missense_D85G exm381375 4 1725570 [T/C] NM_006342 TACC3 EXON Missense_S93L exm381379 4 1729556 [A/G] NM_006342 TACC3 EXON Missense_E143K exm2069683 4 1729844 [A/G] NM_006342 TACC3 EXON Missense_G239S exm381405 4 1729887 [T/G] NM_006342 TACC3 EXON Missense_G253V exm381408 4 1729911 [A/G] NM_006342 TACC3 EXON Missense_G261E exm381411 4 1729959 [T/C] NM_006342 TACC3 EXON Missense_A277V exm381413 4 1729976 [A/G] NM_006342 TACC3 EXON Missense_V283M exm381414 4 1729979 [T/C] NM_006342 TACC3 EXON Missense_P284S exm381416 4 1729988 [A/G] NM_006342 TACC3 EXON Missense_G287S exm381420 4 1730121 [C/G] NM_006342 TACC3 EXON Missense_S331W exm381432 4 1730262 [T/C] NM_006342 TACC3 EXON Missense_P378L exm2256486 4 1730308 [T/C] NM_006342 TACC3 EXON Synonymous_D393D exm2069687 4 1730313 [G/C] NM_006342 TACC3 EXON Missense_P395R exm2069688 4 1730328 [A/G] NM_006342 TACC3 EXON Missense_R400Q exm381446 4 1730345 [A/G] NM_006342 TACC3 EXON Missense_D406N exm381449 4 1730379 [T/C] NM_006342 TACC3 EXON Missense_P417L exm381464 4 1732978 [A/G] NM_006342 TACC3 EXON Missense_G514E exm-rs798766 4 1734239 [T/C] NM_006342 TACC3 Silent exm381467 4 1737009 [T/C] NM_006342 TACC3 EXON Missense_T534M exm381476 4 1737468 [T/C] NM_006342 TACC3 EXON Missense_S552L exm381483 4 1737542 [A/G] NM_006342 TACC3 EXON Missense_V577M exm381492 4 1738999 [T/C] NM_006342 TACC3 EXON Missense_R594C exm381497 4 1739008 [A/G] NM_006342 TACC3 EXON Missense_E597K exm381508 4 1739379 [A/G] NM_006342 TACC3 EXON Missense_G631R exm381529 4 1742616 [A/G] NM_006342 TACC3 EXON Missense_D709G exm381559 4 1801001 [A/G] NM_022965,NM_000142,NM_001163213 FGFR3,FGFR3,FGFR3 EXON Missense_G44S,Missense_G44S,Missense_G44S exm381562 4 1801025 [A/G] NM_022965,NM_000142,NM_001163213 FGFR3,FGFR3,FGFR3 EXON Missense_G52S,Missense_G52S,Missense_G52S exm381567 4 1801064 [A/G] NM_022965,NM_000142,NM_001163213 FGFR3,FGFR3,FGFR3 EXON Missense_G65R,Missense_G65R,Missense_G65R exm381579 4 1801241 [T/C] NM_022965,NM_000142,NM_001163213 FGFR3,FGFR3,FGFR3 EXON Missense_R124W,Missense_R124W,Missense_R124W exm381603 4 1803438 [A/G] NM_022965,NM_000142,NM_001163213 FGFR3,FGFR3,FGFR3 EXON Missense_S236N,Missense_S236N,Missense_S236N exm381604 4 1803444 [A/G] NM_022965,NM_000142,NM_001163213 FGFR3,FGFR3,FGFR3 EXON Missense_R238Q,Missense_R238Q,Missense_R238Q exm381605 4 1803456 [T/C] NM_022965,NM_000142,NM_001163213 FGFR3,FGFR3,FGFR3 EXON Missense_T242M,Missense_T242M,Missense_T242M exm381624 4 1805473 [A/G] NM_022965,NM_000142,NM_001163213 FGFR3,FGFR3,FGFR3 EXON Silent,Missense_V329I,Silent exm2070343 4 1806569 [A/G] NM_022965,NM_000142,NM_001163213 FGFR3,FGFR3,FGFR3 EXON Missense_A317T,Missense_A429T,Missense_A431T exm381659 4 1806633 [T/C] NM_022965,NM_000142,NM_001163213 FGFR3,FGFR3,FGFR3 EXON Missense_T338M,Missense_T450M,Missense_T452M exm381681 4 1807488 [A/G] NM_022965,NM_000142,NM_001163213 FGFR3,FGFR3,FGFR3 EXON Missense_V441M,Missense_V553M,Missense_V555M exm381698 4 1807657 [T/C] NM_022965,NM_000142,NM_001163213 FGFR3,FGFR3,FGFR3 EXON Missense_A497V,Missense_A609V,Missense_A611V exm381714 4 1808391 [A/G] NM_022965,NM_000142,NM_001163213 FGFR3,FGFR3,FGFR3 EXON Missense_A605T,Missense_A717T,Missense_A719T exm381737 4 1808964 [T/C] NM_022965,NM_000142,NM_001163213 FGFR3,FGFR3,FGFR3 EXON Missense_P687L,Missense_P799L,Missense_P801L exm2273385 4 1815990 [A/G] NM_012318 LETM1 EXON Silent exm381763 4 1816281 [T/C] NM_012318 LETM1 EXON Missense_K697R exm381765 4 1817466 [T/G] NM_012318 LETM1 EXON Missense_E665D exm381771 4 1818568 [T/C] NM_012318 LETM1 EXON Missense_K606R exm381774 4 1818625 [T/C] NM_012318 LETM1 EXON Missense_K587R exm381776 4 1821141 [T/C] NM_012318 LETM1 EXON Missense_Q556R exm381785 4 1824020 [T/C] NM_012318 LETM1 EXON Missense_R499H exm381798 4 1824770 [A/G] NM_012318 LETM1 EXON Missense_A474V exm381843 4 1843201 [T/C] NM_012318 LETM1 EXON Missense_R156Q exm381852 4 1843324 [T/C] NM_012318 LETM1 EXON Missense_R115H exm381853 4 1843333 [T/C] NM_012318 LETM1 EXON Missense_R112H exm381854 4 1843342 [T/C] NM_012318 LETM1 EXON Missense_H109R exm381855 4 1843351 [T/C] NM_012318 LETM1 EXON Missense_R106H exm381856 4 1843365 [G/C] NM_012318 LETM1 EXON Missense_Q101H exm381861 4 1843417 [A/G] NM_012318 LETM1 EXON Missense_S84L exm381863 4 1843424 [T/C] NM_012318 LETM1 EXON Missense_I82V exm381870 4 1843520 [T/C] NM_012318 LETM1 EXON Missense_V50I exm381881 4 1902580 [A/G] NM_001042424,NM_133331,NM_133335,NM_133330,NM_007331,NM_133334 WHSC1,WHSC1,WHSC1,WHSC1,WHSC1,WHSC1 EXON Missense_G67S,Missense_G67S,Missense_G67S,Missense_G67S,Missense_G67S,Missense_G67S exm381889 4 1902722 [G/C] NM_001042424,NM_133331,NM_133335,NM_133330,NM_007331,NM_133334 WHSC1,WHSC1,WHSC1,WHSC1,WHSC1,WHSC1 EXON Missense_T114S,Missense_T114S,Missense_T114S,Missense_T114S,Missense_T114S,Missense_T114S exm381894 4 1902826 [A/G] NM_001042424,NM_133331,NM_133335,NM_133330,NM_007331,NM_133334 WHSC1,WHSC1,WHSC1,WHSC1,WHSC1,WHSC1 EXON Missense_A149T,Missense_A149T,Missense_A149T,Missense_A149T,Missense_A149T,Missense_A149T exm381907 4 1918721 [T/A] NM_001042424,NM_133331,NM_133335,NM_133330,NM_007331,NM_133334 WHSC1,WHSC1,WHSC1,WHSC1,WHSC1,WHSC1 EXON Missense_Q295L,Missense_Q295L,Missense_Q295L,Missense_Q295L,Missense_Q295L,Missense_Q295L exm381909 4 1918741 [T/C] NM_001042424,NM_133331,NM_133335,NM_133330,NM_007331,NM_133334 WHSC1,WHSC1,WHSC1,WHSC1,WHSC1,WHSC1 EXON Missense_P302S,Missense_P302S,Missense_P302S,Missense_P302S,Missense_P302S,Missense_P302S exm381920 4 1920270 [A/G] NM_001042424,NM_133331,NM_133335,NM_133330,NM_007331,NM_133334 WHSC1,WHSC1,WHSC1,WHSC1,WHSC1,WHSC1 EXON Missense_T444A,Missense_T444A,Missense_T444A,Missense_T444A,Missense_T444A,Missense_T444A exm381937 4 1936897 [A/C] NM_001042424,NM_133331,NM_133335,NM_133330,NM_007331,NM_133334 WHSC1,WHSC1,WHSC1,WHSC1,WHSC1,WHSC1 EXON Missense_H528N,Missense_H528N,Missense_H528N,Missense_H528N,Missense_H528N,Missense_H528N exm381938 4 1936899 [A/C] NM_001042424,NM_133331,NM_133335,NM_133330,NM_007331,NM_133334 WHSC1,WHSC1,WHSC1,WHSC1,WHSC1,WHSC1 EXON Missense_H528Q,Missense_H528Q,Missense_H528Q,Missense_H528Q,Missense_H528Q,Missense_H528Q exm381939 4 1936900 [A/C] NM_001042424,NM_133331,NM_133335,NM_133330,NM_007331,NM_133334 WHSC1,WHSC1,WHSC1,WHSC1,WHSC1,WHSC1 EXON Missense_T529P,Missense_T529P,Missense_T529P,Missense_T529P,Missense_T529P,Missense_T529P exm381940 4 1936907 [C/G] NM_001042424,NM_133331,NM_133335,NM_133330,NM_007331,NM_133334 WHSC1,WHSC1,WHSC1,WHSC1,WHSC1,WHSC1 EXON Missense_R531T,Missense_R531T,Missense_R531T,Missense_R531T,Missense_R531T,Missense_R531T exm381942 4 1936967 [T/C] NM_001042424,NM_133331,NM_133335,NM_133330,NM_007331,NM_133334 WHSC1,WHSC1,WHSC1,WHSC1,WHSC1,WHSC1 EXON Missense_T551M,Missense_T551M,Missense_T551M,Missense_T551M,Missense_T551M,Missense_T551M exm381948 4 1940236 [G/C] NM_001042424,NM_133331,NM_133335,NM_133330,NM_007331,NM_133334 WHSC1,WHSC1,WHSC1,WHSC1,WHSC1,WHSC1 EXON Missense_A578G,Missense_A578G,Missense_A578G,Missense_A578G,Missense_A578G,Missense_A578G exm381952 4 1944099 [T/G] NM_001042424,NM_133331,NM_133335,NM_133330,NM_007331,NM_133334 WHSC1,WHSC1,WHSC1,WHSC1,WHSC1,WHSC1 EXON Silent,Silent,Silent,Silent,Silent,Missense_L639V exm381982 4 1956963 [T/C] NM_001042424,NM_133331,NM_133335,NM_133330 WHSC1,WHSC1,WHSC1,WHSC1 EXON Missense_V805A,Missense_V805A,Missense_V805A,Missense_V805A exm381983 4 1956968 [A/G] NM_001042424,NM_133331,NM_133335,NM_133330 WHSC1,WHSC1,WHSC1,WHSC1 EXON Missense_A807T,Missense_A807T,Missense_A807T,Missense_A807T exm382003 4 1961228 [T/C] NM_001042424,NM_133331,NM_133335,NM_133330 WHSC1,WHSC1,WHSC1,WHSC1 EXON Missense_Y1006H,Missense_Y1006H,Missense_Y1006H,Missense_Y1006H exm382034 4 1978405 [T/C] NM_001042424,NM_133331,NM_133335,NM_133330 WHSC1,WHSC1,WHSC1,WHSC1 EXON Synonymous_F1275F,Synonymous_F1275F,Synonymous_F1275F,Synonymous_F1275F exm382040 4 1980469 [A/G] NM_001042424,NM_133331,NM_133335,NM_133330 WHSC1,WHSC1,WHSC1,WHSC1 EXON Missense_T1311A,Missense_T1311A,Missense_T1311A,Missense_T1311A exm382057 4 1985084 [A/G] NM_005663 NELFA EXON Missense_R528C exm382086 4 1985717 [A/G] NM_005663 NELFA EXON Missense_T398M exm382092 4 1985774 [A/G] NM_005663 NELFA EXON Missense_A379V exm382100 4 1986559 [T/C] NM_005663 NELFA EXON Missense_I349V exm382102 4 1986571 [T/C] NM_005663 NELFA EXON Missense_A345T exm382126 4 1988103 [G/C] NM_005663 NELFA EXON Missense_A232P exm382144 4 1989684 [T/C] NM_005663 NELFA EXON Missense_A210T exm382211 4 2065658 [T/C] NM_178557 NAT8L EXON Missense_V238A exm382232 4 2073958 [T/C] NM_181808 POLN EXON Nonsense_W862X exm-IND4-2044500 4 2074703 [D/I] NM_181808 POLN EXON exm382244 4 2077199 [A/G] NM_181808 POLN EXON Missense_P812L exm382254 4 2083359 [T/C] NM_181808 POLN Silent exm2071957 4 2083438 [T/G] NM_181808 POLN EXON Missense_P744T exm382263 4 2087404 [A/C] NM_181808 POLN EXON Missense_F711L exm382268 4 2097595 [A/G] NM_181808 POLN EXON Missense_A683V exm382270 4 2097602 [T/C] NM_181808 POLN EXON Missense_V681M exm382275 4 2129906 [A/G] NM_181808 POLN EXON Missense_P639L exm382278 4 2129943 [T/C] NM_181808 POLN EXON Missense_I627V exm382279 4 2130921 [T/C] NM_181808 POLN EXON Missense_T618A exm382286 4 2132961 [T/A] NM_181808 POLN EXON Missense_K596N exm382292 4 2158516 [A/G] NM_181808 POLN EXON Missense_P577L exm382296 4 2159625 [T/C] NM_181808 POLN EXON Missense_K542R exm382298 4 2160884 [A/G] NM_181808 POLN EXON Nonsense_Q537X exm382301 4 2160925 [T/C] NM_181808 POLN EXON Missense_R523Q exm382302 4 2160940 [T/C] NM_181808 POLN Silent exm382311 4 2172443 [A/G] NM_181808 POLN EXON Missense_T506M exm382312 4 2172456 [T/C] NM_181808 POLN EXON Missense_S502G exm382313 4 2172826 [T/A] NM_181808 POLN EXON Missense_E486V exm382315 4 2172847 [A/G] NM_181808 POLN EXON Missense_T479M exm382330 4 2176454 [A/G] NM_181808 POLN EXON Missense_R425C exm382333 4 2178018 [T/G] NM_181808 POLN EXON Missense_T408K exm382348 4 2194946 [T/C] NM_181808 POLN EXON Missense_G336S exm382351 4 2195009 [A/G] NM_181808 POLN EXON Missense_P315S exm382352 4 2195024 [T/G] NM_181808 POLN EXON Missense_M310L exm382361 4 2200366 [A/G] NM_181808 POLN EXON Missense_P265S exm382362 4 2200386 [A/C] NM_181808 POLN EXON Missense_G258V exm382363 4 2200402 [A/G] NM_181808 POLN EXON Missense_R253C exm382368 4 2209749 [A/G] NM_181808 POLN EXON Missense_Y227H exm382369 4 2209758 [T/C] NM_181808 POLN EXON Missense_T224A exm382374 4 2209880 [A/C] NM_181808 POLN EXON Missense_G183V exm382375 4 2209884 [T/C] NM_181808 POLN EXON Missense_E182K exm382376 4 2209899 [A/C] NM_181808 POLN EXON Missense_D177Y exm2072009 4 2209922 [T/C] NM_181808 POLN EXON Missense_S169N exm382377 4 2209976 [T/C] NM_181808 POLN EXON Missense_S151N exm382378 4 2210057 [T/G] NM_181808 POLN EXON Missense_Q124P exm382380 4 2210065 [A/C] NM_181808 POLN EXON Missense_Q121H exm382383 4 2210075 [A/G] NM_181808 POLN EXON Missense_L118S exm382394 4 2230858 [A/G] NM_181808,NM_024511 POLN,HAUS3 EXON Missense_V34A,Silent exm382402 4 2233709 [A/G] NM_024511 HAUS3 EXON Missense_I586T exm382405 4 2233755 [A/C] NM_024511 HAUS3 EXON Nonsense_E571X exm382408 4 2233809 [T/C] NM_024511 HAUS3 EXON Missense_V553M exm382414 4 2237980 [T/C] NM_024511 HAUS3 EXON Missense_G518E exm382419 4 2238099 [G/C] NM_024511 HAUS3 EXON Missense_L478F exm382420 4 2240337 [A/G] NM_024511 HAUS3 EXON Missense_T448I exm382422 4 2240377 [T/C] NM_024511 HAUS3 EXON Missense_I435V exm382423 4 2240398 [C/G] NM_024511 HAUS3 EXON Missense_D428H exm382426 4 2240475 [T/C] NM_024511 HAUS3 EXON Missense_Y402C exm382427 4 2240484 [T/C] NM_024511 HAUS3 EXON Missense_R399Q exm382429 4 2240521 [G/C] NM_024511 HAUS3 EXON Missense_L387V exm382435 4 2240724 [T/C] NM_024511 HAUS3 EXON Missense_S319N exm382436 4 2240734 [T/C] NM_024511 HAUS3 EXON Missense_S316G exm382454 4 2242247 [T/C] NM_024511 HAUS3 EXON Missense_E143K exm382458 4 2242450 [A/G] NM_024511 HAUS3 EXON Missense_A75V exm382477 4 2252824 [T/G] NM_006454 MXD4 EXON Missense_D153E exm2256550 4 2252881 [T/C] NM_006454 MXD4 EXON Synonymous_S134S exm2269708 4 2270534 [T/C] exm382517 4 2273127 [T/C] NM_001172656,NM_020972,NM_001172659 ZFYVE28,ZFYVE28,ZFYVE28 EXON Missense_V785M,Missense_V815M,Missense_V745M exm382521 4 2273411 [T/C] NM_001172656,NM_020972,NM_001172659 ZFYVE28,ZFYVE28,ZFYVE28 EXON Missense_D777N,Missense_D807N,Missense_D737N exm382540 4 2306052 [A/G] NM_001172656,NM_020972,NM_001172659 ZFYVE28,ZFYVE28,ZFYVE28 EXON Missense_S642L,Missense_S672L,Missense_S602L exm382541 4 2306053 [A/G] NM_001172656,NM_020972,NM_001172659 ZFYVE28,ZFYVE28,ZFYVE28 EXON Missense_S642P,Missense_S672P,Missense_S602P exm382547 4 2306196 [T/C] NM_001172656,NM_020972,NM_001172659 ZFYVE28,ZFYVE28,ZFYVE28 EXON Missense_R594Q,Missense_R624Q,Missense_R554Q exm382549 4 2306221 [T/G] NM_001172656,NM_020972,NM_001172659 ZFYVE28,ZFYVE28,ZFYVE28 EXON Missense_P586T,Missense_P616T,Missense_P546T exm382550 4 2306229 [A/G] NM_001172656,NM_020972,NM_001172659 ZFYVE28,ZFYVE28,ZFYVE28 EXON Missense_A583V,Missense_A613V,Missense_A543V exm382553 4 2306259 [T/C] NM_001172656,NM_020972,NM_001172659 ZFYVE28,ZFYVE28,ZFYVE28 EXON Missense_S573N,Missense_S603N,Missense_S533N exm382557 4 2306281 [T/C] NM_001172656,NM_020972,NM_001172659 ZFYVE28,ZFYVE28,ZFYVE28 EXON Missense_A566T,Missense_A596T,Missense_A526T exm382559 4 2306286 [A/G] NM_001172656,NM_020972,NM_001172659 ZFYVE28,ZFYVE28,ZFYVE28 EXON Missense_S564L,Missense_S594L,Missense_S524L exm382562 4 2306329 [A/G] NM_001172656,NM_020972,NM_001172659 ZFYVE28,ZFYVE28,ZFYVE28 EXON Missense_R550C,Missense_R580C,Missense_R510C exm2256553 4 2306339 [A/G] NM_001172656,NM_020972,NM_001172659 ZFYVE28,ZFYVE28,ZFYVE28 EXON Synonymous_D546D,Synonymous_D576D,Synonymous_D506D exm382567 4 2306356 [T/C] NM_001172656,NM_020972,NM_001172659 ZFYVE28,ZFYVE28,ZFYVE28 EXON Missense_G541R,Missense_G571R,Missense_G501R exm382573 4 2306440 [T/C] NM_001172656,NM_020972,NM_001172659 ZFYVE28,ZFYVE28,ZFYVE28 EXON Missense_E513K,Missense_E543K,Missense_E473K exm382580 4 2306478 [A/G] NM_001172656,NM_020972,NM_001172659 ZFYVE28,ZFYVE28,ZFYVE28 EXON Missense_A500V,Missense_A530V,Missense_A460V exm382583 4 2306499 [A/G] NM_001172656,NM_020972,NM_001172659 ZFYVE28,ZFYVE28,ZFYVE28 EXON Missense_S493L,Missense_S523L,Missense_S453L exm382589 4 2306583 [A/G] NM_001172656,NM_020972,NM_001172659 ZFYVE28,ZFYVE28,ZFYVE28 EXON Missense_A465V,Missense_A495V,Missense_A425V exm382595 4 2306646 [A/G] NM_001172656,NM_020972,NM_001172659 ZFYVE28,ZFYVE28,ZFYVE28 EXON Missense_A444V,Missense_A474V,Missense_A404V exm382597 4 2306662 [C/G] NM_001172656,NM_020972,NM_001172659 ZFYVE28,ZFYVE28,ZFYVE28 EXON Missense_D439H,Missense_D469H,Missense_D399H exm382603 4 2306696 [T/G] NM_001172656,NM_020972,NM_001172659 ZFYVE28,ZFYVE28,ZFYVE28 EXON Missense_D427E,Missense_D457E,Missense_D387E exm382604 4 2306733 [A/G] NM_001172656,NM_020972,NM_001172659 ZFYVE28,ZFYVE28,ZFYVE28 EXON Missense_A415V,Missense_A445V,Missense_A375V exm2240856 4 2306739 [A/C] NM_001172656,NM_020972,NM_001172659 ZFYVE28,ZFYVE28,ZFYVE28 EXON Missense_G413V,Missense_G443V,Missense_G373V exm382613 4 2306871 [T/C] NM_001172656,NM_020972,NM_001172659 ZFYVE28,ZFYVE28,ZFYVE28 EXON Missense_R369H,Missense_R399H,Missense_R329H exm382616 4 2306896 [A/G] NM_001172656,NM_020972,NM_001172659 ZFYVE28,ZFYVE28,ZFYVE28 EXON Missense_R361W,Missense_R391W,Missense_R321W exm382618 4 2306902 [A/G] NM_001172656,NM_020972,NM_001172659 ZFYVE28,ZFYVE28,ZFYVE28 EXON Missense_R359C,Missense_R389C,Missense_R319C exm382626 4 2307012 [A/G] NM_001172656,NM_020972,NM_001172659 ZFYVE28,ZFYVE28,ZFYVE28 EXON Missense_A322V,Missense_A352V,Missense_A282V exm382630 4 2307087 [A/G] NM_001172656,NM_020972,NM_001172659 ZFYVE28,ZFYVE28,ZFYVE28 EXON Missense_P297L,Missense_P327L,Missense_P257L exm382632 4 2307121 [A/G] NM_001172656,NM_020972,NM_001172659 ZFYVE28,ZFYVE28,ZFYVE28 EXON Missense_P286S,Missense_P316S,Missense_P246S exm382638 4 2307177 [T/C] NM_001172656,NM_020972,NM_001172659 ZFYVE28,ZFYVE28,ZFYVE28 EXON Missense_R267H,Missense_R297H,Missense_R227H exm382643 4 2307225 [A/G] NM_001172656,NM_020972,NM_001172659 ZFYVE28,ZFYVE28,ZFYVE28 EXON Missense_T251M,Missense_T281M,Missense_T211M exm382646 4 2307249 [A/G] NM_001172656,NM_020972,NM_001172659 ZFYVE28,ZFYVE28,ZFYVE28 EXON Missense_T243M,Missense_T273M,Missense_T203M exm382654 4 2332705 [T/C] NM_001172656,NM_020972,NM_001172659,NM_001172660,NM_001172658,NM_001172657 ZFYVE28,ZFYVE28,ZFYVE28,ZFYVE28,ZFYVE28,ZFYVE28 EXON Silent,Silent,Silent,Silent,Silent,Missense_G258R exm382693 4 2355766 [T/C] NM_001172656,NM_020972,NM_001172659,NM_001172660,NM_001172658,NM_001172657 ZFYVE28,ZFYVE28,ZFYVE28,ZFYVE28,ZFYVE28,ZFYVE28 EXON Missense_Y25C,Missense_Y25C,Silent,Silent,Silent,Missense_Y25C exm382702 4 2438704 [A/G] NM_001193282 LOC402160 EXON Missense_D72G exm382706 4 2446955 [T/A] NM_001193282 LOC402160 EXON Nonsense_K188X exm382707 4 2451467 [A/G] NM_001193282 LOC402160 EXON Missense_R238Q exm382708 4 2451694 [T/C] NM_001193282 LOC402160 EXON Missense_C253R exm382712 4 2460519 [G/C] NM_001193282 LOC402160 EXON Missense_E411Q exm382713 4 2460546 [A/G] NM_001193282 LOC402160 EXON Missense_A420T exm382714 4 2460571 [T/C] NM_001193282 LOC402160 EXON Missense_A428V exm382720 4 2461888 [A/G] NM_001193282 LOC402160 EXON Missense_H527R exm2269895 4 2484203 [T/C] NM_001185010,NM_002938,NM_001185009 RNF4,RNF4,RNF4 Silent,Silent,Silent exm382734 4 2514193 [G/C] NM_001185010,NM_002938,NM_001185009 RNF4,RNF4,RNF4 EXON Silent,Missense_R81S,Missense_R81S exm382737 4 2514302 [A/G] NM_001185010,NM_002938,NM_001185009 RNF4,RNF4,RNF4 EXON Silent,Missense_D118N,Missense_D118N exm382739 4 2514816 [A/G] NM_001185010,NM_002938,NM_001185009 RNF4,RNF4,RNF4 EXON Missense_Q74R,Synonymous_S127S,Synonymous_S127S exm382742 4 2515405 [A/G] NM_001185010,NM_002938,NM_001185009 RNF4,RNF4,RNF4 EXON Missense_R91K,Synonymous_Q144Q,Synonymous_Q144Q exm2240883 4 2632732 [A/G] NR_046335,NM_001256667,NM_003704,NM_001256668,NR_046336,NM_001256666 FAM193A,FAM193A,FAM193A,FAM193A,FAM193A,FAM193A EXON Silent,Missense_M1V,Missense_M1V,Missense_M1V,Silent,Missense_M1V exm2072583 4 2632766 [T/C] NR_046335,NM_001256667,NM_003704,NM_001256668,NR_046336,NM_001256666 FAM193A,FAM193A,FAM193A,FAM193A,FAM193A,FAM193A EXON Silent,Missense_A12V,Missense_A12V,Missense_A12V,Silent,Missense_A12V exm382749 4 2632804 [G/C] NR_046335,NM_001256667,NM_003704,NM_001256668,NR_046336,NM_001256666 FAM193A,FAM193A,FAM193A,FAM193A,FAM193A,FAM193A EXON Silent,Missense_P25A,Missense_P25A,Missense_P25A,Silent,Missense_P25A exm382750 4 2632805 [T/C] NR_046335,NM_001256667,NM_003704,NM_001256668,NR_046336,NM_001256666 FAM193A,FAM193A,FAM193A,FAM193A,FAM193A,FAM193A EXON Silent,Missense_P25L,Missense_P25L,Missense_P25L,Silent,Missense_P25L exm382755 4 2641509 [T/C] NR_046335,NM_001256667,NM_003704,NM_001256668,NR_046336,NM_001256666 FAM193A,FAM193A,FAM193A,FAM193A,FAM193A,FAM193A EXON Silent,Synonymous_N71N,Synonymous_N71N,Synonymous_N71N,Silent,Synonymous_N71N exm2256561 4 2641509 [T/C] NR_046335,NM_001256667,NM_003704,NM_001256668,NR_046336,NM_001256666 FAM193A,FAM193A,FAM193A,FAM193A,FAM193A,FAM193A EXON Silent,Synonymous_N71N,Synonymous_N71N,Synonymous_N71N,Silent,Synonymous_N71N exm382758 4 2641568 [T/C] NR_046335,NM_001256667,NM_003704,NM_001256668,NR_046336,NM_001256666 FAM193A,FAM193A,FAM193A,FAM193A,FAM193A,FAM193A EXON Silent,Missense_A91V,Missense_A91V,Missense_A91V,Silent,Missense_A91V exm382763 4 2648449 [A/G] NR_046335,NM_001256667,NM_003704,NM_001256668,NR_046336,NM_001256666 FAM193A,FAM193A,FAM193A,FAM193A,FAM193A,FAM193A EXON Silent,Missense_T110A,Missense_T110A,Missense_T110A,Silent,Missense_T110A exm382769 4 2659543 [A/C] NR_046335,NM_001256667,NM_003704,NM_001256668,NR_046336,NM_001256666 FAM193A,FAM193A,FAM193A,FAM193A,FAM193A,FAM193A EXON Silent,Missense_T175N,Missense_T151N,Missense_T151N,Silent,Missense_T151N exm382773 4 2661301 [A/C] NR_046335,NM_001256667,NM_003704,NM_001256668,NR_046336,NM_001256666 FAM193A,FAM193A,FAM193A,FAM193A,FAM193A,FAM193A EXON Silent,Missense_A202E,Missense_A178E,Missense_A178E,Silent,Missense_A178E exm382777 4 2661342 [A/G] NR_046335,NM_001256667,NM_003704,NM_001256668,NR_046336,NM_001256666 FAM193A,FAM193A,FAM193A,FAM193A,FAM193A,FAM193A EXON Silent,Missense_M216V,Missense_M192V,Missense_M192V,Silent,Missense_M192V exm382779 4 2661355 [A/G] NR_046335,NM_001256667,NM_003704,NM_001256668,NR_046336,NM_001256666 FAM193A,FAM193A,FAM193A,FAM193A,FAM193A,FAM193A EXON Silent,Missense_R220Q,Missense_R196Q,Missense_R196Q,Silent,Missense_R196Q exm382781 4 2661597 [T/C] NR_046335,NM_001256667,NM_003704,NM_001256668,NR_046336,NM_001256666 FAM193A,FAM193A,FAM193A,FAM193A,FAM193A,FAM193A EXON Silent,Missense_P254S,Missense_P230S,Missense_P230S,Silent,Missense_P230S exm382791 4 2661676 [T/C] NR_046335,NM_001256667,NM_003704,NM_001256668,NR_046336,NM_001256666 FAM193A,FAM193A,FAM193A,FAM193A,FAM193A,FAM193A EXON Silent,Missense_P280L,Missense_P256L,Missense_P256L,Silent,Missense_P256L exm382794 4 2661700 [T/C] NR_046335,NM_001256667,NM_003704,NM_001256668,NR_046336,NM_001256666 FAM193A,FAM193A,FAM193A,FAM193A,FAM193A,FAM193A EXON Silent,Missense_S288L,Missense_S264L,Missense_S264L,Silent,Missense_S264L exm2072655 4 2664692 [A/G] NR_046335,NM_001256667,NM_003704,NM_001256668,NR_046336,NM_001256666 FAM193A,FAM193A,FAM193A,FAM193A,FAM193A,FAM193A EXON Silent,Missense_G356R,Missense_G334R,Missense_G334R,Silent,Missense_G334R exm382811 4 2673912 [A/C] NR_046335,NM_001256667,NM_003704,NM_001256668,NR_046336,NM_001256666 FAM193A,FAM193A,FAM193A,FAM193A,FAM193A,FAM193A EXON Silent,Missense_P446Q,Missense_P424Q,Missense_P424Q,Silent,Missense_P424Q exm382814 4 2673963 [T/C] NR_046335,NM_001256667,NM_003704,NM_001256668,NR_046336,NM_001256666 FAM193A,FAM193A,FAM193A,FAM193A,FAM193A,FAM193A EXON Silent,Missense_P463L,Missense_P441L,Missense_P441L,Silent,Missense_P441L exm382815 4 2674038 [A/C] NR_046335,NM_001256667,NM_003704,NM_001256668,NR_046336,NM_001256666 FAM193A,FAM193A,FAM193A,FAM193A,FAM193A,FAM193A EXON Silent,Missense_H488P,Missense_H466P,Missense_H466P,Silent,Missense_H466P exm382824 4 2691411 [T/C] NR_046335,NM_001256667,NM_003704,NM_001256668,NR_046336,NM_001256666 FAM193A,FAM193A,FAM193A,FAM193A,FAM193A,FAM193A EXON Silent,Missense_F568S,Missense_F546S,Missense_F546S,Silent,Missense_F546S exm382828 4 2692479 [T/C] NR_046335,NM_001256667,NM_003704,NM_001256668,NR_046336,NM_001256666 FAM193A,FAM193A,FAM193A,FAM193A,FAM193A,FAM193A EXON Silent,Missense_P593L,Missense_P571L,Missense_P571L,Silent,Missense_P571L exm382830 4 2692509 [T/C] NR_046335,NM_001256667,NM_003704,NM_001256668,NR_046336,NM_001256666 FAM193A,FAM193A,FAM193A,FAM193A,FAM193A,FAM193A EXON Silent,Missense_S603L,Missense_S581L,Missense_S581L,Silent,Missense_S581L exm382843 4 2695385 [T/C] NR_046335,NM_001256667,NM_003704,NM_001256668,NR_046336,NM_001256666 FAM193A,FAM193A,FAM193A,FAM193A,FAM193A,FAM193A EXON Silent,Missense_T690M,Missense_T668M,Missense_T668M,Silent,Missense_T668M exm382860 4 2695585 [T/C] NR_046335,NM_001256667,NM_003704,NM_001256668,NR_046336,NM_001256666 FAM193A,FAM193A,FAM193A,FAM193A,FAM193A,FAM193A EXON Silent,Missense_P757S,Missense_P735S,Missense_P735S,Silent,Missense_P735S exm382864 4 2696701 [A/G] NR_046335,NM_001256667,NM_003704,NM_001256668,NR_046336,NM_001256666 FAM193A,FAM193A,FAM193A,FAM193A,FAM193A,FAM193A EXON Silent,Missense_E772K,Missense_E750K,Missense_E750K,Silent,Missense_E750K exm382893 4 2701518 [T/C] NR_046335,NM_001256667,NM_003704,NM_001256668,NR_046336,NM_001256666 FAM193A,FAM193A,FAM193A,FAM193A,FAM193A,FAM193A EXON Silent,Missense_R938C,Missense_R916C,Missense_R916C,Silent,Missense_R916C exm382899 4 2701540 [A/G] NR_046335,NM_001256667,NM_003704,NM_001256668,NR_046336,NM_001256666 FAM193A,FAM193A,FAM193A,FAM193A,FAM193A,FAM193A EXON Silent,Missense_R945Q,Missense_R923Q,Missense_R923Q,Silent,Missense_R923Q exm382903 4 2701672 [A/G] NR_046335,NM_001256667,NM_003704,NM_001256668,NR_046336,NM_001256666 FAM193A,FAM193A,FAM193A,FAM193A,FAM193A,FAM193A EXON Silent,Missense_N989S,Missense_N967S,Missense_N967S,Silent,Missense_N967S exm382904 4 2701681 [A/G] NR_046335,NM_001256667,NM_003704,NM_001256668,NR_046336,NM_001256666 FAM193A,FAM193A,FAM193A,FAM193A,FAM193A,FAM193A EXON Silent,Missense_N992S,Missense_N970S,Missense_N970S,Silent,Missense_N970S exm382914 4 2701816 [A/G] NR_046335,NM_001256667,NM_003704,NM_001256668,NR_046336,NM_001256666 FAM193A,FAM193A,FAM193A,FAM193A,FAM193A,FAM193A EXON Silent,Missense_K1037R,Missense_K1015R,Missense_K1015R,Silent,Missense_K1015R exm382924 4 2702034 [A/G] NR_046335,NM_001256667,NM_003704,NM_001256668,NR_046336,NM_001256666 FAM193A,FAM193A,FAM193A,FAM193A,FAM193A,FAM193A EXON Silent,Missense_D1110N,Missense_D1088N,Missense_D1088N,Silent,Missense_D1088N exm382926 4 2702066 [C/G] NR_046335,NM_001256667,NM_003704,NM_001256668,NR_046336,NM_001256666 FAM193A,FAM193A,FAM193A,FAM193A,FAM193A,FAM193A EXON Silent,Missense_E1120D,Missense_E1098D,Missense_E1098D,Silent,Missense_E1098D exm382933 4 2702151 [T/C] NR_046335,NM_001256667,NM_003704,NM_001256668,NR_046336,NM_001256666 FAM193A,FAM193A,FAM193A,FAM193A,FAM193A,FAM193A EXON Silent,Missense_P1149S,Missense_P1127S,Missense_P1127S,Silent,Missense_P1127S exm382956 4 2744184 [T/C] NM_024309,NM_001161527 TNIP2,TNIP2 EXON Missense_A364T,Missense_A257T exm382958 4 2744222 [T/C] NM_024309,NM_001161527 TNIP2,TNIP2 EXON Missense_R351Q,Missense_R244Q exm382964 4 2746146 [T/C] NM_024309,NM_001161527 TNIP2,TNIP2 EXON Missense_A332T,Missense_A225T exm382979 4 2746491 [T/C] NM_024309,NM_001161527 TNIP2,TNIP2 EXON Missense_Q280R,Missense_Q173R exm382986 4 2746583 [A/C] NM_024309,NM_001161527 TNIP2,TNIP2 EXON Missense_Q249H,Missense_Q142H exm382996 4 2747198 [T/C] NM_024309,NM_001161527 TNIP2,TNIP2 EXON Missense_R211Q,Missense_R104Q exm383005 4 2749525 [T/C] NM_024309,NM_001161527 TNIP2,TNIP2 EXON Missense_V142I,Missense_V35I exm2256565 4 2814698 [T/G] NM_001122681,NM_001145855 SH3BP2,SH3BP2 Silent,Silent exm383029 4 2822423 [A/G] NM_001122681,NM_001145855,NM_001145856,NM_003023 SH3BP2,SH3BP2,SH3BP2,SH3BP2 EXON Missense_V27M,Missense_V55M,Missense_V84M,Missense_V27M exm383038 4 2824764 [A/G] NM_001122681,NM_001145855,NM_001145856,NM_003023 SH3BP2,SH3BP2,SH3BP2,SH3BP2 EXON Missense_R80Q,Missense_R108Q,Missense_R137Q,Missense_R80Q exm383043 4 2826399 [A/G] NM_001122681,NM_001145855,NM_001145856,NM_003023 SH3BP2,SH3BP2,SH3BP2,SH3BP2 EXON Missense_H100R,Missense_H128R,Missense_H157R,Missense_H100R exm2256566 4 2826400 [T/C] NM_001122681,NM_001145855,NM_001145856,NM_003023 SH3BP2,SH3BP2,SH3BP2,SH3BP2 EXON Synonymous_H100H,Synonymous_H128H,Synonymous_H157H,Synonymous_H100H exm383060 4 2828992 [T/C] NM_001122681,NM_001145855,NM_001145856,NM_003023 SH3BP2,SH3BP2,SH3BP2,SH3BP2 EXON Missense_A155V,Missense_A183V,Missense_A212V,Missense_A155V exm383061 4 2829000 [T/C] NM_001122681,NM_001145855,NM_001145856,NM_003023 SH3BP2,SH3BP2,SH3BP2,SH3BP2 EXON Missense_R158W,Missense_R186W,Missense_R215W,Missense_R158W exm2240891 4 2829034 [T/C] NM_001122681,NM_001145855,NM_001145856,NM_003023 SH3BP2,SH3BP2,SH3BP2,SH3BP2 EXON Missense_T169M,Missense_T197M,Missense_T226M,Missense_T169M exm383071 4 2829381 [T/C] NM_001122681,NM_001145855,NM_001145856,NM_003023 SH3BP2,SH3BP2,SH3BP2,SH3BP2 EXON Missense_P189L,Missense_P217L,Missense_P246L,Missense_P189L exm383074 4 2829400 [A/G] NM_001122681,NM_001145855,NM_001145856,NM_003023 SH3BP2,SH3BP2,SH3BP2,SH3BP2 EXON Synonymous_E195E,Synonymous_E223E,Synonymous_E252E,Synonymous_E195E exm383085 4 2831415 [G/C] NM_001122681,NM_001145855,NM_001145856,NM_003023 SH3BP2,SH3BP2,SH3BP2,SH3BP2 EXON Missense_P261R,Missense_P289R,Missense_P318R,Missense_P261R exm383098 4 2831570 [A/G] NM_001122681,NM_001145855,NM_001145856,NM_003023 SH3BP2,SH3BP2,SH3BP2,SH3BP2 EXON Missense_G313R,Missense_G341R,Missense_G370R,Missense_G313R exm383099 4 2831574 [T/C] NM_001122681,NM_001145855,NM_001145856,NM_003023 SH3BP2,SH3BP2,SH3BP2,SH3BP2 EXON Missense_A314V,Missense_A342V,Missense_A371V,Missense_A314V exm383109 4 2831774 [A/G] NM_001122681,NM_001145855,NM_001145856,NM_003023 SH3BP2,SH3BP2,SH3BP2,SH3BP2 EXON Missense_V381M,Missense_V409M,Missense_V438M,Missense_V381M exm383114 4 2833299 [T/C] NM_001122681,NM_001145855,NM_001145856,NM_003023 SH3BP2,SH3BP2,SH3BP2,SH3BP2 EXON Nonsense_R415X,Nonsense_R443X,Nonsense_R472X,Nonsense_R415X exm383125 4 2833665 [T/C] NM_001122681,NM_001145855,NM_001145856,NM_003023 SH3BP2,SH3BP2,SH3BP2,SH3BP2 EXON Missense_S456P,Missense_S484P,Missense_S513P,Missense_S456P exm383135 4 2834080 [T/C] NM_001122681,NM_001145855,NM_001145856,NM_003023 SH3BP2,SH3BP2,SH3BP2,SH3BP2 EXON Missense_R477W,Missense_R505W,Missense_R534W,Missense_R477W exm383142 4 2834742 [G/C] NM_001122681,NM_001145855,NM_001145856,NM_003023 SH3BP2,SH3BP2,SH3BP2,SH3BP2 EXON Missense_S505C,Missense_S533C,Missense_S562C,Missense_S505C exm383149 4 2835541 [A/G] NM_001122681,NM_001145855,NM_001145856,NM_003023 SH3BP2,SH3BP2,SH3BP2,SH3BP2 EXON Missense_G556S,Missense_G584S,Missense_G613S,Missense_G556S exm383150 4 2835561 [A/G] NM_001122681,NM_001145855,NM_001145856,NM_003023 SH3BP2,SH3BP2,SH3BP2,SH3BP2 EXON Missense_X562W,Missense_X590W,Missense_X619W,Missense_X562W exm2240894 4 2877658 [T/C] NM_014189,NM_014190,NM_176801,NM_001119 ADD1,ADD1,ADD1,ADD1 EXON Missense_R6C,Missense_R6C,Missense_R6C,Missense_R6C exm383152 4 2877665 [T/C] NM_014189,NM_014190,NM_176801,NM_001119 ADD1,ADD1,ADD1,ADD1 EXON Missense_A8V,Missense_A8V,Missense_A8V,Missense_A8V exm383177 4 2896408 [T/C] NM_014189,NM_014190,NM_176801,NM_001119 ADD1,ADD1,ADD1,ADD1 EXON Missense_R231C,Missense_R231C,Missense_R231C,Missense_R231C exm383183 4 2896448 [T/C] NM_014189,NM_014190,NM_176801,NM_001119 ADD1,ADD1,ADD1,ADD1 EXON Missense_A244V,Missense_A244V,Missense_A244V,Missense_A244V exm383197 4 2901088 [T/G] NM_014189,NM_014190,NM_176801,NM_001119 ADD1,ADD1,ADD1,ADD1 EXON Missense_G363C,Missense_G363C,Missense_G363C,Missense_G363C exm383219 4 2906707 [T/G] NM_014189,NM_014190,NM_176801,NM_001119 ADD1,ADD1,ADD1,ADD1 EXON Missense_G460W,Missense_G460W,Missense_G460W,Missense_G460W exm383228 4 2910308 [A/G] NM_014189,NM_014190,NM_176801,NM_001119 ADD1,ADD1,ADD1,ADD1 EXON Missense_V559M,Missense_V528M,Missense_V559M,Missense_V528M exm383242 4 2927761 [A/G] NM_014189,NM_014190,NM_176801,NM_001119 ADD1,ADD1,ADD1,ADD1 EXON Missense_E626K,Missense_E595K,Missense_E626K,Missense_E595K exm383246 4 2927807 [T/C] NM_014189,NM_014190,NM_176801,NM_001119 ADD1,ADD1,ADD1,ADD1 EXON Missense_P641L,Missense_P610L,Missense_P641L,Missense_P610L exm383269 4 2930198 [A/T] NM_014189,NM_014190,NM_176801,NM_001119 ADD1,ADD1,ADD1,ADD1 EXON Missense_K752M,Missense_E732D,Missense_E763D,Missense_K721M exm383278 4 2932668 [G/C] NM_001146069,NM_001120 MFSD10,MFSD10 EXON Missense_A422G,Missense_A422G exm383301 4 2933177 [T/C] NM_001146069,NM_001120 MFSD10,MFSD10 EXON Missense_V347M,Missense_V347M exm383305 4 2933284 [A/G] NM_001146069,NM_001120 MFSD10,MFSD10 EXON Missense_R341W,Missense_R341W exm383315 4 2933343 [A/G] NM_001146069,NM_001120 MFSD10,MFSD10 EXON Missense_T321I,Missense_T321I exm383318 4 2933558 [T/A] NM_001146069,NM_001120 MFSD10,MFSD10 EXON Missense_F303Y,Missense_F303Y exm383319 4 2933567 [T/C] NM_001146069,NM_001120 MFSD10,MFSD10 EXON Missense_R300H,Missense_R300H exm383322 4 2933646 [A/G] NM_001146069,NM_001120 MFSD10,MFSD10 EXON Missense_R274C,Missense_R274C exm2072848 4 2933799 [A/G] NM_001146069,NM_001120 MFSD10,MFSD10 EXON Missense_R259C,Missense_R259C exm383329 4 2933849 [A/G] NM_001146069,NM_001120 MFSD10,MFSD10 EXON Missense_A242V,Missense_A242V exm383332 4 2934118 [A/G] NM_001146069,NM_001120 MFSD10,MFSD10 EXON Missense_I218T,Missense_I218T exm2072859 4 2934328 [A/G] NM_001146069,NM_001120 MFSD10,MFSD10 EXON Missense_M177T,Missense_M177T exm383403 4 2940916 [A/G] NR_015453,NM_003703 NOP14-AS1,NOP14 EXON Silent,Missense_R825W exm2072873 4 2940921 [A/G] NR_015453,NM_003703 NOP14-AS1,NOP14 EXON Silent,Missense_M823T exm2072876 4 2940995 [A/C] NR_015453,NM_003703 NOP14-AS1,NOP14 EXON Silent,Synonymous_R798R exm2256571 4 2940995 [A/C] NR_015453,NM_003703 NOP14-AS1,NOP14 EXON Silent,Synonymous_R798R exm383413 4 2941045 [A/T] NR_015453,NM_003703 NOP14-AS1,NOP14 EXON Silent,Missense_S782C exm2072878 4 2941266 [T/C] NR_015453,NM_003703 NOP14-AS1,NOP14 EXON Silent,Missense_R769Q exm383420 4 2941317 [A/G] NR_015453,NM_003703 NOP14-AS1,NOP14 EXON Silent,Missense_P752L exm383421 4 2941320 [T/C] NR_015453,NM_003703 NOP14-AS1,NOP14 EXON Silent,Missense_R751Q exm383422 4 2941321 [A/G] NR_015453,NM_003703 NOP14-AS1,NOP14 EXON Silent,Missense_R751W exm383423 4 2941327 [A/G] NR_015453,NM_003703 NOP14-AS1,NOP14 EXON Silent,Missense_L749F exm383430 4 2943361 [T/C] NR_015453,NM_003703 NOP14-AS1,NOP14 EXON Silent,Missense_Q716R exm383434 4 2943419 [A/G] NR_015453,NM_003703 NOP14-AS1,NOP14 EXON Silent,Missense_R697C exm383444 4 2944025 [T/C] NR_015453,NM_003703 NOP14-AS1,NOP14 EXON Silent,Missense_V649M exm383454 4 2946920 [T/C] NR_015453,NM_003703 NOP14-AS1,NOP14 EXON Silent,Missense_T558A exm383461 4 2948203 [A/G] NR_015453,NM_003703 NOP14-AS1,NOP14 EXON Silent,Missense_A524V exm383468 4 2949274 [C/G] NR_015453,NM_003703 NOP14-AS1,NOP14 EXON Silent,Missense_T493R exm383473 4 2950087 [A/G] NR_015453,NM_003703 NOP14-AS1,NOP14 EXON Silent,Missense_M444T exm2072909 4 2951669 [G/C] NR_015453,NM_003703 NOP14-AS1,NOP14 EXON Silent,Missense_T425R exm383485 4 2951804 [A/G] NR_015453,NM_003703 NOP14-AS1,NOP14 EXON Silent,Missense_L380S exm383489 4 2951868 [T/C] NR_015453,NM_003703 NOP14-AS1,NOP14 EXON Silent,Missense_E359K exm383491 4 2951912 [A/C] NR_015453,NM_003703 NOP14-AS1,NOP14 EXON Silent,Missense_V344G exm383504 4 2954057 [T/A] NM_003703 NOP14 EXON Missense_M272K exm383509 4 2954121 [T/C] NM_003703 NOP14 EXON Missense_D251N exm383519 4 2956258 [T/C] NM_003703 NOP14 EXON Missense_G169S exm383521 4 2956290 [A/G] NM_003703 NOP14 EXON Missense_A158V exm383531 4 2959357 [T/C] NM_003703 NOP14 EXON Missense_M102I exm383544 4 2964988 [A/G] NM_003703 NOP14 EXON Missense_A20V exm383559 4 2986239 [A/G] NM_001004057,NM_001004056,NM_182982 GRK4,GRK4,GRK4 Silent,Silent,Silent exm383562 4 2986333 [T/C] NM_001004057,NM_001004056,NM_182982 GRK4,GRK4,GRK4 EXON Missense_I49T,Silent,Missense_I49T exm383566 4 2990487 [T/C] NM_001004057,NM_001004056,NM_182982 GRK4,GRK4,GRK4 EXON Missense_P61L,Missense_P29L,Missense_P61L exm383568 4 2990499 [T/G] NM_001004057,NM_001004056,NM_182982 GRK4,GRK4,GRK4 EXON Missense_R65L,Missense_R33L,Missense_R65L exm2240908 4 2993963 [G/C] NM_001004057,NM_001004056,NM_182982 GRK4,GRK4,GRK4 EXON Missense_D95H,Missense_D63H,Missense_D95H exm383575 4 2993991 [T/C] NM_001004057,NM_001004056,NM_182982 GRK4,GRK4,GRK4 EXON Missense_S104L,Missense_S72L,Missense_S104L exm2256573 4 2994002 [A/C] NM_001004057,NM_001004056,NM_182982 GRK4,GRK4,GRK4 EXON Synonymous_R108R,Synonymous_R76R,Synonymous_R108R exm383579 4 3005964 [A/G] NM_001004057,NM_001004056,NM_182982 GRK4,GRK4,GRK4 EXON Missense_A116T,Missense_A84T,Missense_A116T exm383581 4 3006043 [T/C] NM_001004057,NM_001004056,NM_182982 GRK4,GRK4,GRK4 EXON Missense_A142V,Missense_A110V,Missense_A142V exm383587 4 3009536 [T/C] NM_001004057,NM_001004056,NM_182982 GRK4,GRK4,GRK4 EXON Nonsense_Q173X,Nonsense_Q141X,Nonsense_Q173X exm2240909 4 3011382 [A/G] NM_001004057,NM_001004056,NM_182982 GRK4,GRK4,GRK4 EXON Missense_V182I,Missense_V150I,Missense_V182I exm383599 4 3015499 [A/G] NM_001004057,NM_001004056,NM_182982 GRK4,GRK4,GRK4 EXON Missense_E229K,Missense_E197K,Missense_E229K exm383600 4 3015553 [A/G] NM_001004057,NM_001004056,NM_182982 GRK4,GRK4,GRK4 EXON Missense_V247I,Missense_V215I,Missense_V247I exm383606 4 3024158 [A/C] NM_001004057,NM_001004056,NM_182982 GRK4,GRK4,GRK4 EXON Missense_N317T,Missense_N285T,Missense_N317T exm383611 4 3029659 [T/C] NM_001004057,NM_001004056,NM_182982 GRK4,GRK4,GRK4 EXON Missense_L331F,Missense_L299F,Missense_L331F exm383612 4 3029662 [A/G] NM_001004057,NM_001004056,NM_182982 GRK4,GRK4,GRK4 EXON Missense_G332S,Missense_G300S,Missense_G332S exm383615 4 3029694 [G/C] NM_001004057,NM_001004056,NM_182982 GRK4,GRK4,GRK4 EXON Missense_R342S,Missense_R310S,Missense_R342S exm383622 4 3031016 [T/G] NM_001004057,NM_001004056,NM_182982 GRK4,GRK4,GRK4 EXON Missense_H383Q,Missense_H351Q,Missense_H383Q exm383631 4 3037213 [T/C] NM_001004057,NM_001004056,NM_182982 GRK4,GRK4,GRK4 EXON Missense_L457P,Missense_L425P,Missense_L457P exm383632 4 3037231 [A/C] NM_001004057,NM_001004056,NM_182982 GRK4,GRK4,GRK4 EXON Missense_E463A,Missense_E431A,Missense_E463A exm383637 4 3039150 [T/C] NM_001004057,NM_001004056,NM_182982 GRK4,GRK4,GRK4 EXON Missense_V486A,Missense_V454A,Missense_V486A exm383638 4 3039176 [A/G] NM_001004057,NM_001004056,NM_182982 GRK4,GRK4,GRK4 EXON Missense_A495T,Missense_A463T,Missense_A495T exm383640 4 3040146 [C/G] NM_001004057,NM_001004056,NM_182982 GRK4,GRK4,GRK4 EXON Silent,Missense_S498T,Missense_S530T exm383685 4 3109012 [A/G] NM_002111 HTT EXON Synonymous_R203R exm383687 4 3109095 [T/C] NM_002111 HTT EXON Missense_A231V exm383688 4 3109116 [T/C] NM_002111 HTT EXON Missense_S238F exm2073035 4 3129023 [G/C] NM_002111 HTT EXON Missense_A479P exm383716 4 3129062 [T/C] NM_002111 HTT EXON Missense_H492Y exm383722 4 3129240 [A/G] NM_002111 HTT EXON Missense_G551E exm383733 4 3132038 [A/G] NM_002111 HTT EXON Missense_Q625R exm383742 4 3133113 [A/G] NM_002111 HTT EXON Missense_G696E exm383745 4 3133368 [T/G] NM_002111 HTT EXON Missense_L701R exm383751 4 3133442 [T/C] NM_002111 HTT EXON Missense_H726Y exm383758 4 3134411 [A/G] NM_002111 HTT EXON Missense_V787M exm383766 4 3136138 [T/C] NM_002111 HTT EXON Missense_M835T exm383775 4 3138013 [A/G] NM_002111 HTT EXON Missense_D920N exm2073063 4 3144528 [C/G] NM_002111 HTT EXON Missense_T994R exm383798 4 3148570 [A/G] NM_002111 HTT EXON Missense_V1064I exm383802 4 3148624 [G/C] NM_002111 HTT EXON Missense_D1082H exm383803 4 3148653 [T/G] NM_002111 HTT EXON Missense_I1091M exm383805 4 3149780 [C/G] NM_002111 HTT EXON Missense_A1115G exm383825 4 3162034 [T/C] NM_002111 HTT EXON Missense_T1260M exm383833 4 3174845 [A/C] NM_002111 HTT EXON Missense_N1385H exm383845 4 3176775 [A/G] NM_002111 HTT EXON Missense_D1450N exm383860 4 3182293 [T/C] NM_002111 HTT EXON Missense_T1555I exm383866 4 3188417 [T/C] NM_002111 HTT EXON Missense_R1654W exm383869 4 3189391 [A/C] NM_002111 HTT EXON Missense_T1668N exm383872 4 3189510 [T/C] NM_002111 HTT EXON Missense_C1708R exm383873 4 3189547 [A/C] NM_002111 HTT EXON Missense_T1720N exm383892 4 3205776 [A/G] NM_002111 HTT EXON Missense_M1873I exm2265660 4 3207142 [A/G] NM_002111 HTT Silent exm383896 4 3208331 [A/G] NM_002111 HTT EXON Missense_V1943I exm383898 4 3208575 [C/G] NM_002111 HTT EXON Missense_I1980M exm383901 4 3208640 [A/G] NM_002111 HTT EXON Missense_R2002H exm383904 4 3209071 [A/G] NM_002111 HTT EXON Missense_G2047R exm383908 4 3210510 [T/C] NM_002111 HTT EXON Missense_L2055F exm383910 4 3210567 [T/C] NM_002111 HTT EXON Missense_S2074P exm383923 4 3213827 [A/G] NM_002111 HTT EXON Missense_A2196T exm383938 4 3215835 [T/C] NM_002111 HTT EXON Missense_Y2309H exm383945 4 3216894 [A/G] NM_002111 HTT EXON Missense_K2337R exm383958 4 3221998 [A/T] NM_002111 HTT EXON Missense_E2444D exm383979 4 3230343 [T/G] NM_002111 HTT EXON Missense_V2617G exm383987 4 3230681 [T/C] NM_002111 HTT EXON Missense_P2685L exm384009 4 3234980 [A/G] NM_002111 HTT EXON Missense_V2786I exm384032 4 3240187 [T/C] NM_002111 HTT EXON Missense_F2969L exm384043 4 3240698 [A/G] NM_002111 HTT EXON Missense_A3070T exm384084 4 3254965 [A/G] NM_001042690 MSANTD1 EXON Missense_A118T exm384085 4 3255056 [T/C] NM_001042690 MSANTD1 EXON Missense_P148L exm384090 4 3255145 [T/C] NM_001042690 MSANTD1 EXON Missense_Y178H exm384098 4 3257507 [A/C] NM_001042690 MSANTD1 EXON Missense_K218Q exm2073184 4 3257667 [T/G] NM_001042690 MSANTD1 EXON Missense_R271M exm384114 4 3317943 [T/G] NM_198229,NM_002926 RGS12,RGS12 EXON Missense_S16A,Missense_S16A exm384117 4 3317976 [T/C] NM_198229,NM_002926 RGS12,RGS12 EXON Missense_R27W,Missense_R27W exm2073190 4 3318001 [T/C] NM_198229,NM_002926 RGS12,RGS12 EXON Missense_T35M,Missense_T35M exm2073193 4 3318063 [A/G] NM_198229,NM_002926 RGS12,RGS12 EXON Missense_V56M,Missense_V56M exm384126 4 3318100 [A/G] NM_198229,NM_002926 RGS12,RGS12 EXON Missense_N68S,Missense_N68S exm384135 4 3318199 [A/G] NM_198229,NM_002926 RGS12,RGS12 EXON Missense_R101H,Missense_R101H exm384139 4 3318339 [A/G] NM_198229,NM_002926 RGS12,RGS12 EXON Missense_N148D,Missense_N148D exm384150 4 3318517 [T/C] NM_198229,NM_002926 RGS12,RGS12 EXON Missense_S207L,Missense_S207L exm384152 4 3318570 [A/G] NM_198229,NM_002926 RGS12,RGS12 EXON Missense_I225V,Missense_I225V exm384157 4 3318625 [T/C] NM_198229,NM_002926 RGS12,RGS12 EXON Missense_T243M,Missense_T243M exm384164 4 3318726 [T/A] NM_198229,NM_002926 RGS12,RGS12 EXON Missense_M277L,Missense_M277L exm384166 4 3318768 [A/G] NM_198229,NM_002926 RGS12,RGS12 EXON Missense_V291M,Missense_V291M exm2073203 4 3318860 [C/G] NM_198229,NM_002926 RGS12,RGS12 EXON Missense_D321E,Missense_D321E exm384176 4 3318888 [A/G] NM_198229,NM_002926 RGS12,RGS12 EXON Missense_G331S,Missense_G331S exm384183 4 3319024 [T/C] NM_198229,NM_002926 RGS12,RGS12 EXON Missense_P376L,Missense_P376L exm384192 4 3319206 [T/C] NM_198229,NM_002926 RGS12,RGS12 EXON Missense_R437W,Missense_R437W exm384199 4 3319261 [A/G] NM_198229,NM_002926 RGS12,RGS12 EXON Missense_S455N,Missense_S455N exm384211 4 3319366 [A/G] NM_198229,NM_002926 RGS12,RGS12 EXON Missense_H490R,Missense_H490R exm384215 4 3319476 [A/G] NM_198229,NM_002926 RGS12,RGS12 EXON Missense_V527M,Missense_V527M exm384221 4 3319558 [A/G] NM_198229,NM_002926 RGS12,RGS12 EXON Missense_Q554R,Missense_Q554R exm384229 4 3319678 [T/C] NM_198229,NM_002926 RGS12,RGS12 EXON Missense_P594L,Missense_P594L exm384230 4 3319687 [T/C] NM_198229,NM_002926 RGS12,RGS12 EXON Missense_A597V,Missense_A597V exm384240 4 3344760 [T/C] NM_198229,NM_002926 RGS12,RGS12 EXON Missense_R660C,Missense_R660C exm384253 4 3388163 [T/C] NM_198229,NM_002926,NM_198227 RGS12,RGS12,RGS12 EXON Synonymous_G673G,Synonymous_G673G,Synonymous_G25G exm384275 4 3417811 [T/C] NM_198229,NM_002926,NM_198227 RGS12,RGS12,RGS12 EXON Missense_A797V,Missense_A797V,Missense_A149V exm384279 4 3418647 [A/G] NM_198229,NM_002926,NM_198227 RGS12,RGS12,RGS12 EXON Missense_N812S,Missense_N812S,Missense_N164S exm384321 4 3425300 [A/G] NM_198229,NM_002926,NM_198227 RGS12,RGS12,RGS12 EXON Missense_V1056I,Missense_V1056I,Missense_V408I exm384342 4 3430406 [A/T] NM_198229,NM_002926,NM_198227 RGS12,RGS12,RGS12 EXON Missense_K1178I,Missense_K1178I,Missense_K530I exm384352 4 3432319 [T/C] NM_198229,NM_002926,NM_198227 RGS12,RGS12,RGS12 EXON Missense_R1251W,Missense_R1251W,Missense_R603W exm384366 4 3432437 [A/C] NM_198229,NM_002926,NM_198227 RGS12,RGS12,RGS12 EXON Missense_P1290H,Missense_P1290H,Missense_P642H exm384372 4 3432508 [A/G] NM_198229,NM_002926,NM_198227 RGS12,RGS12,RGS12 EXON Missense_A1314T,Missense_A1314T,Missense_A666T exm384376 4 3432638 [T/C] NM_198229,NM_002926,NM_198227 RGS12,RGS12,RGS12 EXON Missense_P1357L,Missense_P1357L,Missense_P709L exm384379 4 3432655 [T/C] NM_198229,NM_002926,NM_198227 RGS12,RGS12,RGS12 EXON Nonsense_Q1363X,Nonsense_Q1363X,Nonsense_Q715X exm-rs6818397 4 3434885 [T/G] NM_198229,NM_198227 RGS12,RGS12 Silent,Silent exm384381 4 3441247 [C/G] NM_198229,NM_198227 RGS12,RGS12 EXON Missense_G1394R,Missense_G746R exm2073264 4 3441254 [T/C] NM_198229,NM_198227 RGS12,RGS12 EXON Missense_A1396V,Missense_A748V exm384384 4 3441259 [A/G] NM_198229,NM_198227 RGS12,RGS12 EXON Missense_G1398R,Missense_G750R exm384398 4 3444460 [A/T] NM_001528 HGFAC EXON Missense_N40I exm384400 4 3444477 [G/C] NM_001528 HGFAC EXON Missense_E46Q exm384403 4 3444510 [A/G] NM_001528 HGFAC EXON Missense_T57A exm384406 4 3444528 [A/G] NM_001528 HGFAC EXON Missense_V63M exm384407 4 3444581 [T/G] NM_001528 HGFAC EXON Missense_S80R exm2256585 4 3445131 [A/G] NM_001528 HGFAC EXON Synonymous_P153P exm384432 4 3445802 [A/G] NM_001528 HGFAC EXON Missense_N171S exm384436 4 3445858 [T/C] NM_001528 HGFAC EXON Missense_R190W exm384444 4 3446079 [T/G] NM_001528 HGFAC EXON Missense_G214C exm384446 4 3446091 [T/G] NM_001528 HGFAC EXON Missense_A218S exm384447 4 3446112 [A/G] NM_001528 HGFAC EXON Missense_V225M exm384448 4 3446117 [A/T] NM_001528 HGFAC EXON Missense_E226D exm2073288 4 3446140 [A/G] NM_001528 HGFAC EXON Missense_R234Q exm384451 4 3446150 [G/C] NM_001528 HGFAC EXON Missense_C237W exm384453 4 3446161 [A/G] NM_001528 HGFAC EXON Missense_R241Q exm384476 4 3447042 [T/C] NM_001528 HGFAC EXON Missense_A356V exm384477 4 3447062 [T/C] NM_001528 HGFAC EXON Missense_R363C exm384478 4 3447063 [A/G] NM_001528 HGFAC EXON Missense_R363H exm384488 4 3447821 [T/G] NM_001528 HGFAC EXON Missense_E385D exm384513 4 3449284 [T/C] NM_001528 HGFAC EXON Missense_T474M exm384515 4 3449314 [T/C] NM_001528 HGFAC EXON Missense_P484L exm384521 4 3449360 [T/C] NM_001528 HGFAC Silent exm384525 4 3449652 [A/G] NM_001528 HGFAC EXON Missense_R509H exm384526 4 3449667 [T/C] NM_001528 HGFAC EXON Missense_S514L exm384536 4 3449863 [A/G] NM_001528 HGFAC EXON Missense_G549S exm384537 4 3449868 [A/C] NM_001528 HGFAC EXON Nonsense_Y550X exm384541 4 3449915 [A/G] NM_001528 HGFAC EXON Missense_K566R exm384544 4 3449941 [A/G] NM_001528 HGFAC EXON Missense_A575T exm384559 4 3451109 [A/G] NM_001528 HGFAC EXON Missense_R644Q exm384561 4 3451120 [T/C] NM_001528 HGFAC EXON Missense_P648S exm-rs6831256 4 3473139 [A/G] NM_173660,NM_001164673 DOK7,DOK7 Silent,Silent exm384573 4 3475166 [T/C] NM_173660,NM_001164673 DOK7,DOK7 EXON Missense_S45L,Missense_S45L exm384576 4 3475193 [A/G] NM_173660,NM_001164673 DOK7,DOK7 EXON Missense_R54H,Missense_R54H exm384577 4 3475210 [A/G] NM_173660,NM_001164673 DOK7,DOK7 EXON Missense_E60K,Missense_E60K exm384587 4 3475345 [T/C] NM_173660,NM_001164673 DOK7,DOK7 EXON Missense_R105C,Missense_R105C exm2073349 4 3487273 [T/C] NM_173660,NM_001164673,NM_001256896 DOK7,DOK7,DOK7 EXON Synonymous_G180G,Missense_R177C,Silent exm384611 4 3487294 [T/C] NM_173660,NM_001164673,NM_001256896 DOK7,DOK7,DOK7 EXON Synonymous_A187A,Nonsense_R184X,Silent exm384617 4 3487321 [T/C] NM_173660,NM_001164673,NM_001256896 DOK7,DOK7,DOK7 EXON Synonymous_F196F,Nonsense_R193X,Silent exm384619 4 3487329 [T/G] NM_173660,NM_001164673,NM_001256896 DOK7,DOK7,DOK7 EXON Missense_I199S,Missense_H195Q,Silent exm384625 4 3487374 [T/C] NM_173660,NM_001164673,NM_001256896 DOK7,DOK7,DOK7 EXON Missense_P214L,Synonymous_A210A,Silent exm384627 4 3491416 [T/C] NM_173660,NM_001164673,NM_001256896 DOK7,DOK7,DOK7 EXON Missense_P222L,Synonymous_P218P,Silent exm384628 4 3491419 [A/G] NM_173660,NM_001164673,NM_001256896 DOK7,DOK7,DOK7 EXON Missense_G223E,Synonymous_G219G,Silent exm384633 4 3491504 [A/G] NM_173660,NM_001164673,NM_001256896 DOK7,DOK7,DOK7 EXON Synonymous_A251A,Missense_G248R,Silent exm384638 4 3494494 [T/C] NM_173660,NM_001164673,NM_001256896 DOK7,DOK7,DOK7 EXON Missense_R261C,Silent,Silent exm384639 4 3494495 [A/G] NM_173660,NM_001164673,NM_001256896 DOK7,DOK7,DOK7 EXON Missense_R261H,Silent,Silent exm384642 4 3494525 [G/C] NM_173660,NM_001164673,NM_001256896 DOK7,DOK7,DOK7 EXON Missense_S271T,Silent,Silent exm384643 4 3494529 [G/C] NM_173660,NM_001164673,NM_001256896 DOK7,DOK7,DOK7 EXON Missense_H272Q,Silent,Silent exm384646 4 3494551 [T/C] NM_173660,NM_001164673,NM_001256896 DOK7,DOK7,DOK7 EXON Missense_R280W,Silent,Silent exm384656 4 3494600 [A/G] NM_173660,NM_001164673,NM_001256896 DOK7,DOK7,DOK7 EXON Missense_Q296R,Silent,Silent exm384658 4 3494617 [C/G] NM_173660,NM_001164673,NM_001256896 DOK7,DOK7,DOK7 EXON Missense_A302P,Silent,Silent exm384690 4 3494881 [T/C] NM_173660,NM_001164673,NM_001256896 DOK7,DOK7,DOK7 EXON Missense_P390S,Silent,Missense_P80S exm384691 4 3494884 [A/G] NM_173660,NM_001164673,NM_001256896 DOK7,DOK7,DOK7 EXON Missense_G391R,Silent,Missense_G81R exm2256587 4 3494898 [T/C] NM_173660,NM_001164673,NM_001256896 DOK7,DOK7,DOK7 EXON Synonymous_Y395Y,Silent,Synonymous_Y85Y exm384695 4 3494917 [T/C] NM_173660,NM_001164673,NM_001256896 DOK7,DOK7,DOK7 EXON Missense_R402W,Silent,Missense_R92W exm384696 4 3494938 [T/C] NM_173660,NM_001164673,NM_001256896 DOK7,DOK7,DOK7 EXON Missense_R409C,Silent,Missense_R99C exm384698 4 3494943 [A/C] NM_173660,NM_001164673,NM_001256896 DOK7,DOK7,DOK7 EXON Missense_S410R,Silent,Missense_S100R exm384700 4 3494956 [T/C] NM_173660,NM_001164673,NM_001256896 DOK7,DOK7,DOK7 EXON Missense_P415S,Silent,Missense_P105S exm384702 4 3494971 [C/G] NM_173660,NM_001164673,NM_001256896 DOK7,DOK7,DOK7 EXON Missense_P420A,Silent,Missense_P110A exm384709 4 3495008 [A/G] NM_173660,NM_001164673,NM_001256896 DOK7,DOK7,DOK7 EXON Missense_R432K,Silent,Missense_R122K exm384721 4 3495170 [T/C] NM_173660,NM_001164673,NM_001256896 DOK7,DOK7,DOK7 EXON Missense_P486L,Silent,Missense_P176L exm2073368 4 3495182 [T/C] NM_173660,NM_001164673,NM_001256896 DOK7,DOK7,DOK7 EXON Missense_S490L,Silent,Missense_S180L exm384723 4 3495193 [A/G] NM_173660,NM_001164673,NM_001256896 DOK7,DOK7,DOK7 EXON Missense_V494I,Silent,Missense_V184I exm384737 4 3514715 [C/G] NM_002337 LRPAP1 EXON Missense_H354D exm384744 4 3516501 [T/C] NM_002337 LRPAP1 EXON Missense_R330Q exm384772 4 3519881 [T/C] NM_002337 LRPAP1 EXON Missense_D211N exm384777 4 3519917 [T/C] NM_002337 LRPAP1 EXON Missense_I199V exm384782 4 3520630 [T/C] NM_002337 LRPAP1 EXON Missense_N187S exm2073395 4 3520638 [A/G] NM_002337 LRPAP1 EXON Synonymous_H184H exm384784 4 3520694 [T/C] NM_002337 LRPAP1 EXON Missense_G166S exm384788 4 3521804 [A/G] NM_002337 LRPAP1 EXON Missense_H156Y exm384789 4 3521805 [A/C] NM_002337 LRPAP1 EXON Missense_W155C exm384791 4 3521837 [T/C] NM_002337 LRPAP1 EXON Missense_G145R exm384796 4 3521895 [T/G] NM_002337 LRPAP1 EXON Missense_D125E exm384798 4 3526642 [T/C] NM_002337 LRPAP1 EXON Missense_N114S exm384799 4 3526645 [T/C] NM_002337 LRPAP1 EXON Missense_R113H exm384803 4 3526685 [T/C] NM_002337 LRPAP1 EXON Missense_G100S exm384804 4 3526709 [A/C] NM_002337 LRPAP1 EXON Missense_A92S exm384805 4 3526715 [T/C] NM_002337 LRPAP1 EXON Missense_E90K exm2073402 4 3534052 [A/T] NM_002337 LRPAP1 EXON Missense_S30C exm2073549 4 3768805 [A/G] NM_000683 ADRA2C EXON Missense_E158K exm384855 4 3769507 [A/G] NM_000683 ADRA2C EXON Missense_V392M exm2269896 4 3881341 [T/G] exm384884 4 4198893 [T/C] NM_177998 OTOP1 EXON Synonymous_S556S exm384902 4 4199083 [T/G] NM_177998 OTOP1 EXON Missense_K493T exm384914 4 4199266 [A/G] NM_177998 OTOP1 EXON Missense_A432V exm384919 4 4199311 [T/C] NM_177998 OTOP1 EXON Missense_G417D exm384942 4 4199600 [T/C] NM_177998 OTOP1 EXON Missense_V321M exm384958 4 4199797 [A/G] NM_177998 OTOP1 EXON Missense_T255M exm384963 4 4204253 [T/C] NM_177998 OTOP1 EXON Missense_V218I exm384973 4 4207798 [A/C] NM_177998 OTOP1 Silent exm384974 4 4207799 [T/C] NM_177998 OTOP1 EXON Missense_R200K exm384996 4 4228425 [T/C] NM_177998 OTOP1 EXON Missense_K56R exm385024 4 4239661 [A/C] NM_032927 TMEM128 EXON Missense_F110V exm385026 4 4242132 [T/C] NM_032927 TMEM128 EXON Nonsense_W81X exm385027 4 4247938 [T/C] NM_032927 TMEM128 EXON Missense_H53R exm385031 4 4248022 [T/G] NM_032927 TMEM128 EXON Missense_N25T exm2265662 4 4267298 [A/G] exm385051 4 4269672 [T/G] NM_001145725,NM_017816 LYAR,LYAR EXON Missense_I362L,Missense_I362L exm385067 4 4276099 [A/G] NM_001145725,NM_017816 LYAR,LYAR EXON Missense_S276L,Missense_S276L exm2074624 4 4276124 [A/C] NM_001145725,NM_017816 LYAR,LYAR EXON Missense_A268S,Missense_A268S exm385068 4 4276132 [T/C] NM_001145725,NM_017816 LYAR,LYAR EXON Missense_H265R,Missense_H265R exm385071 4 4276198 [T/C] NM_001145725,NM_017816 LYAR,LYAR EXON Missense_G243D,Missense_G243D exm385074 4 4276259 [A/G] NM_001145725,NM_017816 LYAR,LYAR EXON Missense_R223C,Missense_R223C exm385083 4 4276469 [A/G] NM_001145725,NM_017816 LYAR,LYAR EXON Missense_R153W,Missense_R153W exm2273995 4 4276475 [A/C] NM_001145725,NM_017816 LYAR,LYAR EXON Missense_D151Y,Missense_D151Y exm2074627 4 4276484 [T/C] NM_001145725,NM_017816 LYAR,LYAR EXON Missense_K148E,Missense_K148E exm385087 4 4276490 [T/C] NM_001145725,NM_017816 LYAR,LYAR EXON Missense_V146I,Missense_V146I exm385090 4 4281173 [T/C] NM_001145725,NM_017816 LYAR,LYAR Silent,Silent exm385091 4 4281174 [A/G] NM_001145725,NM_017816 LYAR,LYAR EXON Synonymous_S143S,Synonymous_S143S exm385093 4 4281194 [A/C] NM_001145725,NM_017816 LYAR,LYAR EXON Missense_F137V,Missense_F137V exm385094 4 4281230 [A/G] NM_001145725,NM_017816 LYAR,LYAR EXON Missense_H125Y,Missense_H125Y exm385099 4 4281449 [A/T] NM_001145725,NM_017816 LYAR,LYAR EXON Missense_N89Y,Missense_N89Y exm385103 4 4283543 [A/G] NM_001145725,NM_017816 LYAR,LYAR EXON Synonymous_H68H,Synonymous_H68H exm2256616 4 4283543 [A/G] NM_001145725,NM_017816 LYAR,LYAR EXON Synonymous_H68H,Synonymous_H68H exm2256617 4 4301786 [A/G] NM_145291 ZBTB49 EXON Synonymous_A38A exm385123 4 4303927 [G/C] NM_145291 ZBTB49 EXON Missense_V122L exm385140 4 4304315 [T/C] NM_145291 ZBTB49 EXON Missense_T251M exm385147 4 4304443 [T/C] NM_145291 ZBTB49 EXON Missense_C294R exm385149 4 4304522 [A/C] NM_145291 ZBTB49 EXON Missense_Y320S exm385152 4 4304599 [A/G] NM_145291 ZBTB49 EXON Missense_E346K exm385153 4 4304605 [A/G] NM_145291 ZBTB49 EXON Missense_A348T exm2277279 4 4304699 [T/C] NM_145291 ZBTB49 EXON Missense_P379L exm385164 4 4304749 [A/G] NM_145291 ZBTB49 EXON Missense_A396T exm385168 4 4304783 [T/C] NM_145291 ZBTB49 EXON Missense_P407L exm385182 4 4322368 [A/G] NM_145291 ZBTB49 EXON Synonymous_G541G exm385185 4 4322411 [A/G] NM_145291 ZBTB49 EXON Missense_T556A exm385192 4 4322570 [A/G] NM_145291 ZBTB49 EXON Missense_E609K exm2273996 4 4322607 [T/C] NM_145291 ZBTB49 EXON Missense_T621M exm385201 4 4322693 [A/G] NM_145291 ZBTB49 EXON Missense_G650S exm385202 4 4322700 [A/G] NM_145291 ZBTB49 EXON Missense_Y652C exm385205 4 4322732 [A/G] NM_145291 ZBTB49 EXON Missense_G663R exm385213 4 4322847 [A/G] NM_145291 ZBTB49 EXON Missense_G701D exm385218 4 4322940 [G/C] NM_145291 ZBTB49 EXON Missense_S732C exm2074712 4 4389331 [A/G] NM_014392,NM_001040101 NSG1,NSG1 EXON Silent,Silent exm385231 4 4389432 [T/C] NM_014392,NM_001040101 NSG1,NSG1 EXON Missense_P26S,Missense_P26S exm385237 4 4393208 [A/G] NM_014392,NM_001040101 NSG1,NSG1 EXON Missense_V46M,Missense_V46M exm2275725 4 4393223 [A/G] NM_014392,NM_001040101 NSG1,NSG1 EXON Missense_E51K,Missense_E51K exm385252 4 4419002 [T/C] NM_014392,NM_001040101 NSG1,NSG1 EXON Missense_A133V,Missense_A133V exm385257 4 4419077 [T/C] NM_014392,NM_001040101 NSG1,NSG1 EXON Missense_T158M,Missense_T158M exm2074736 4 4436545 [G/C] NM_016930 STX18 EXON Missense_W218C exm385304 4 4440183 [T/G] NM_016930 STX18 EXON Missense_E184A exm385311 4 4459224 [T/C] NM_016930 STX18 EXON Missense_H119R exm385315 4 4473433 [T/C] NM_016930 STX18 EXON Missense_I57V exm385335 4 4861844 [T/C] NM_002448 MSX1 EXON Missense_P73L exm385341 4 4861991 [T/G] NM_002448 MSX1 EXON Missense_G122V exm385357 4 4864587 [A/G] NM_002448 MSX1 EXON Missense_S210N exm385360 4 4864712 [A/G] NM_002448 MSX1 EXON Missense_G252S exm385375 4 5016883 [A/G] NM_018659 CYTL1 EXON Missense_R136C exm2273997 4 5016889 [A/G] NM_018659 CYTL1 EXON Missense_R134C exm385381 4 5018561 [A/T] NM_018659 CYTL1 Silent exm385401 4 5021021 [A/G] NM_018659 CYTL1 EXON Missense_S51L exm2265817 4 5023112 [A/G] exm-rs6446315 4 5035587 [A/G] exm2256638 4 5163466 [T/C] NM_018401 STK32B Silent exm385433 4 5170126 [A/G] NM_018401 STK32B EXON Missense_R70Q exm-rs2008242 4 5221538 [G/C] NM_018401 STK32B Silent exm-rs7697839 4 5367985 [A/G] NM_018401 STK32B Silent exm385449 4 5399970 [T/C] NM_018401 STK32B EXON Synonymous_H157H exm385453 4 5418605 [T/C] NM_018401 STK32B EXON Missense_T169M exm385455 4 5448429 [A/G] NM_018401 STK32B EXON Missense_R198G exm385462 4 5458543 [A/G] NM_018401 STK32B EXON Missense_E226K exm385463 4 5458556 [T/C] NM_018401 STK32B EXON Missense_V230A exm385469 4 5461848 [A/G] NM_018401 STK32B EXON Missense_E268K exm385470 4 5461855 [A/G] NM_018401 STK32B EXON Missense_R270H exm2256644 4 5461893 [T/C] NM_018401 STK32B EXON Synonymous_L283L exm385474 4 5461915 [T/C] NM_018401 STK32B EXON Missense_A290V exm385488 4 5469781 [A/G] NM_018401 STK32B EXON Missense_I364V exm385494 4 5500733 [A/C] NM_018401 STK32B EXON Missense_Q390K exm385496 4 5500743 [A/G] NM_018401 STK32B EXON Missense_S393N exm385505 4 5527073 [G/C] NM_005750 C4orf6 EXON Missense_Q6E exm385506 4 5527074 [A/G] NM_005750 C4orf6 EXON Missense_Q6R exm385507 4 5527102 [A/C] NM_005750 C4orf6 EXON Missense_N15K exm385516 4 5527185 [T/C] NM_005750 C4orf6 EXON Missense_I43T exm2075912 4 5527214 [C/G] NM_005750 C4orf6 EXON Missense_A53P exm385522 4 5527943 [A/G] NM_005750 C4orf6 EXON Missense_G56E exm385523 4 5527971 [T/G] NM_005750 C4orf6 EXON Missense_E65D exm385526 4 5527979 [A/G] NM_005750 C4orf6 EXON Missense_C68Y exm385527 4 5527988 [T/C] NM_005750 C4orf6 EXON Missense_A71V exm385529 4 5528039 [G/C] NM_005750 C4orf6 EXON Nonsense_S88X exm385530 4 5528061 [A/G] NM_005750 C4orf6 Silent exm385540 4 5567000 [T/C] NM_147127,NM_001166136 EVC2,EVC2 EXON Missense_R1215H,Missense_R1135H exm385554 4 5570297 [T/C] NM_147127,NM_001166136 EVC2,EVC2 EXON Missense_S1144N,Missense_S1064N exm2075973 4 5570315 [A/G] NM_147127,NM_001166136 EVC2,EVC2 EXON Missense_T1138M,Missense_T1058M exm385560 4 5570333 [A/G] NM_147127,NM_001166136 EVC2,EVC2 EXON Missense_A1132V,Missense_A1052V exm385566 4 5576471 [T/C] NM_147127,NM_001166136 EVC2,EVC2 EXON Missense_V1101M,Missense_V1021M exm385575 4 5578021 [A/G] NM_147127,NM_001166136 EVC2,EVC2 EXON Missense_V1073A,Missense_V993A exm385578 4 5578073 [T/C] NM_147127,NM_001166136 EVC2,EVC2 EXON Missense_G1056R,Missense_G976R exm385579 4 5578101 [C/G] NM_147127,NM_001166136 EVC2,EVC2 EXON Missense_S1046R,Missense_S966R exm385586 4 5586384 [A/G] NM_147127,NM_001166136 EVC2,EVC2 EXON Missense_S1008L,Missense_S928L exm385591 4 5586510 [A/G] NM_147127,NM_001166136 EVC2,EVC2 EXON Missense_S966L,Missense_S886L exm385593 4 5586543 [T/C] NM_147127,NM_001166136 EVC2,EVC2 EXON Missense_R955Q,Missense_R875Q exm385595 4 5586559 [A/G] NM_147127,NM_001166136 EVC2,EVC2 EXON Missense_R950W,Missense_R870W exm2076069 4 5617239 [G/C] NM_147127,NM_001166136 EVC2,EVC2 EXON Missense_K913N,Missense_K833N exm2273998 4 5620257 [T/C] NM_147127,NM_001166136 EVC2,EVC2 EXON Missense_R885Q,Missense_R805Q exm385609 4 5620290 [T/C] NM_147127,NM_001166136 EVC2,EVC2 EXON Missense_R874Q,Missense_R794Q exm385620 4 5624322 [A/G] NM_147127,NM_001166136 EVC2,EVC2 EXON Missense_P815S,Missense_P735S exm385622 4 5624349 [T/C] NM_147127,NM_001166136 EVC2,EVC2 EXON Missense_V806M,Missense_V726M exm385632 4 5624468 [T/C] NM_147127,NM_001166136 EVC2,EVC2 EXON Missense_R766H,Missense_R686H exm385650 4 5624670 [T/C] NM_147127,NM_001166136 EVC2,EVC2 EXON Missense_T699A,Missense_T619A exm385652 4 5624688 [T/C] NM_147127,NM_001166136 EVC2,EVC2 EXON Missense_V693I,Missense_V613I exm385655 4 5624705 [T/C] NM_147127,NM_001166136 EVC2,EVC2 EXON Missense_R687H,Missense_R607H exm385659 4 5627483 [A/G] NM_147127,NM_001166136 EVC2,EVC2 EXON Missense_L680P,Missense_L600P exm385664 4 5627568 [T/C] NM_147127,NM_001166136 EVC2,EVC2 EXON Missense_I652V,Missense_I572V exm385665 4 5627593 [G/C] NM_147127,NM_001166136 EVC2,EVC2 EXON Missense_E643D,Missense_E563D exm385666 4 5627634 [T/C] NM_147127,NM_001166136 EVC2,EVC2 EXON Missense_A630T,Missense_A550T exm385667 4 5630290 [T/C] NM_147127,NM_001166136 EVC2,EVC2 EXON Missense_E628K,Missense_E548K exm385672 4 5630349 [T/C] NM_147127,NM_001166136 EVC2,EVC2 EXON Missense_R608H,Missense_R528H exm385675 4 5630442 [A/G] NM_147127,NM_001166136 EVC2,EVC2 EXON Missense_M577T,Missense_M497T exm385687 4 5633663 [A/C] NM_147127,NM_001166136 EVC2,EVC2 EXON Missense_A523S,Missense_A443S exm385691 4 5633725 [A/C] NM_147127,NM_001166136 EVC2,EVC2 EXON Missense_L502R,Missense_L422R exm385695 4 5633752 [A/G] NM_147127,NM_001166136 EVC2,EVC2 EXON Missense_V493A,Missense_V413A exm2269897 4 5638652 [T/G] NM_147127,NM_001166136 EVC2,EVC2 Silent,Silent exm2269712 4 5641753 [T/G] NM_147127,NM_001166136 EVC2,EVC2 Silent,Silent exm385696 4 5642249 [T/C] NM_147127,NM_001166136 EVC2,EVC2 EXON Missense_G488S,Missense_G408S exm385705 4 5642347 [G/C] NM_147127,NM_001166136 EVC2,EVC2 EXON Missense_T455R,Missense_T375R exm385716 4 5642513 [T/C] NM_147127,NM_001166136 EVC2,EVC2 EXON Missense_T400A,Missense_T320A exm385726 4 5664945 [A/G] NM_147127,NM_001166136 EVC2,EVC2 EXON Missense_P345L,Missense_P265L exm385727 4 5664970 [T/A] NM_147127,NM_001166136 EVC2,EVC2 EXON Missense_W337R,Missense_W257R exm385729 4 5667244 [A/G] NM_147127,NM_001166136 EVC2,EVC2 EXON Missense_R335W,Missense_R255W exm385737 4 5667334 [A/C] NM_147127,NM_001166136 EVC2,EVC2 EXON Missense_A305S,Missense_A225S exm385750 4 5687099 [A/G] NM_147127,NM_001166136 EVC2,EVC2 EXON Missense_R272W,Missense_R192W exm385755 4 5687148 [A/G] NM_147127,NM_001166136 EVC2,EVC2 EXON Synonymous_N255N,Synonymous_N175N exm385764 4 5690898 [T/C] NM_147127,NM_001166136 EVC2,EVC2 EXON Missense_K231R,Missense_K151R exm385766 4 5690902 [T/C] NM_147127,NM_001166136 EVC2,EVC2 EXON Missense_S230G,Missense_S150G exm385782 4 5693048 [A/G] NM_147127,NM_001166136 EVC2,EVC2 EXON Missense_S155P,Missense_S75P exm2076330 4 5696066 [T/C] NM_147127,NM_001166136 EVC2,EVC2 EXON Missense_R149H,Missense_R69H exm385802 4 5721021 [A/C] NM_153717 EVC EXON Missense_Q74P exm385806 4 5721084 [A/G] NM_153717 EVC EXON Missense_D95G exm385809 4 5731074 [T/C] NM_153717 EVC EXON Missense_A114V exm385812 4 5733216 [A/C] NM_153717 EVC EXON Missense_H150P exm385815 4 5733236 [C/G] NM_153717 EVC EXON Missense_P157A exm385816 4 5733240 [C/G] NM_153717 EVC EXON Missense_S158C exm385820 4 5733299 [A/G] NM_153717 EVC EXON Missense_V178I exm385823 4 5733317 [A/G] NM_153717 EVC EXON Missense_D184N exm385824 4 5733336 [T/G] NM_153717 EVC EXON Missense_R190L exm385832 4 5735137 [T/C] NM_153717 EVC EXON Missense_T226M exm385835 4 5743476 [T/G] NM_153717 EVC EXON Missense_D246Y exm385837 4 5743512 [T/C] NM_153717 EVC EXON Missense_Y258H exm385844 4 5747028 [A/C] NM_153717 EVC EXON Missense_E300A exm385848 4 5747063 [A/G] NM_153717 EVC EXON Missense_D312N exm2076543 4 5749917 [T/C] NM_153717 EVC EXON Missense_L328F exm385859 4 5749975 [T/C] NM_153717 EVC EXON Missense_T347M exm385863 4 5750010 [A/G] NM_153717 EVC EXON Missense_D359N exm385871 4 5754579 [T/C] NM_153717 EVC EXON Missense_T372M exm385874 4 5754591 [T/C] NM_153717 EVC EXON Missense_A376V exm385879 4 5754671 [A/G] NM_153717 EVC EXON Missense_G403S exm385882 4 5755516 [A/T] NM_153717 EVC EXON Missense_F440L exm385883 4 5755517 [A/G] NM_153717 EVC EXON Missense_V441I exm385884 4 5755524 [A/G] NM_153717 EVC EXON Missense_R443Q exm385885 4 5755529 [A/C] NM_153717 EVC EXON Missense_K445Q exm385887 4 5755542 [A/C] NM_153717 EVC EXON Missense_T449K exm385890 4 5755565 [A/G] NM_153717 EVC EXON Missense_E457K exm385902 4 5758026 [A/G] NM_153717 EVC EXON Missense_M500I exm385906 4 5758054 [A/G] NM_153717 EVC EXON Missense_V510I exm385909 4 5758066 [A/G] NM_153717 EVC EXON Missense_E514K exm385915 4 5785351 [A/G] NM_153717 EVC EXON Missense_M546V exm385930 4 5785442 [A/G] NM_153717 EVC EXON Missense_R576Q exm2241144 4 5785452 [T/G] NM_153717 EVC EXON Missense_Q579H exm2241145 4 5785469 [A/G] NM_153717 EVC EXON Missense_E585G exm385936 4 5795384 [A/G] NM_153717 EVC EXON Missense_R609Q exm385938 4 5795413 [A/G] NM_153717 EVC EXON Missense_V619I exm385940 4 5798754 [T/C] NM_153717 EVC EXON Missense_T631M exm385943 4 5798802 [A/G] NM_153717 EVC EXON Missense_R647Q exm385945 4 5798825 [A/G] NM_153717 EVC EXON Missense_A655T exm2076685 4 5798903 [A/G] NM_153717 EVC EXON Missense_E681K exm385961 4 5800494 [A/G] NM_153717 EVC EXON Missense_R760Q exm2256657 4 5803721 [T/C] NM_153717 EVC EXON Synonymous_S783S exm385969 4 5803722 [A/G] NM_153717 EVC EXON Missense_A784T exm385970 4 5803735 [A/G] NM_153717 EVC EXON Missense_R788H exm385979 4 5806526 [T/C] NM_153717 EVC EXON Missense_T840M exm385981 4 5806556 [T/C] NM_153717 EVC EXON Missense_A850V exm385987 4 5811263 [A/G] NM_153717 EVC EXON Missense_I903V exm385996 4 5812152 [A/G] NM_153717 EVC EXON Missense_G957R exm2275726 4 5812717 [A/G] NM_153717 EVC EXON Missense_D978N exm386010 4 5823570 [T/G] NM_001014809,NM_001313 CRMP1,CRMP1 EXON Missense_I660L,Missense_I546L exm386023 4 5830233 [T/C] NM_001014809,NM_001313 CRMP1,CRMP1 EXON Missense_V596I,Missense_V482I exm386026 4 5830260 [T/C] NM_001014809,NM_001313 CRMP1,CRMP1 EXON Missense_A587T,Missense_A473T exm386030 4 5830284 [T/C] NM_001014809,NM_001313 CRMP1,CRMP1 EXON Missense_M579V,Missense_M465V exm386031 4 5830296 [T/C] NM_001014809,NM_001313 CRMP1,CRMP1 EXON Missense_V575I,Missense_V461I exm386032 4 5830352 [A/G] NM_001014809,NM_001313 CRMP1,CRMP1 EXON Missense_S556F,Missense_S442F exm386064 4 5843038 [T/C] NM_001014809,NM_001313 CRMP1,CRMP1 EXON Missense_K384E,Missense_K270E exm386079 4 5844865 [T/C] NM_001014809,NM_001313 CRMP1,CRMP1 EXON Missense_M329I,Missense_M215I exm386084 4 5853194 [T/C] NM_001014809,NM_001313 CRMP1,CRMP1 EXON Missense_V275I,Missense_V161I exm386090 4 5857909 [G/C] NM_001014809,NM_001313 CRMP1,CRMP1 EXON Missense_G261R,Missense_G147R exm2256663 4 6020190 [A/G] exm2256664 4 6055813 [T/C] NM_001099433,NM_144720 JAKMIP1,JAKMIP1 EXON Synonymous_Q590Q,Synonymous_Q590Q exm386263 4 6080710 [A/C] NM_001099433,NM_144720 JAKMIP1,JAKMIP1 EXON Missense_L420V,Missense_L420V exm386268 4 6081975 [A/G] NM_001099433,NM_144720 JAKMIP1,JAKMIP1 EXON Missense_T389M,Missense_T389M exm386271 4 6082017 [A/G] NM_001099433,NM_144720 JAKMIP1,JAKMIP1 EXON Missense_A375V,Missense_A375V exm386274 4 6083353 [A/G] NM_001099433,NM_144720 JAKMIP1,JAKMIP1 EXON Missense_R362W,Missense_R362W exm386284 4 6086635 [T/G] NM_001099433,NM_144720 JAKMIP1,JAKMIP1 EXON Missense_N298H,Missense_N298H exm386320 4 6114531 [A/G] NM_001099433,NM_144720 JAKMIP1,JAKMIP1 EXON Missense_T16M,Missense_T16M exm386321 4 6114573 [A/G] NM_001099433,NM_144720 JAKMIP1,JAKMIP1 EXON Missense_S2L,Missense_S2L exm-rs4689388 4 6270056 [A/G] exm386326 4 6279223 [A/G] NM_006005,NM_001145853 WFS1,WFS1 EXON Missense_Q14R,Missense_Q14R exm386331 4 6279300 [A/G] NM_006005,NM_001145853 WFS1,WFS1 EXON Missense_R40G,Missense_R40G exm2241150 4 6279393 [T/C] NM_006005,NM_001145853 WFS1,WFS1 EXON Missense_R71W,Missense_R71W exm386337 4 6279409 [T/G] NM_006005,NM_001145853 WFS1,WFS1 EXON Missense_G76V,Missense_G76V exm2241153 4 6290741 [A/G] NM_006005,NM_001145853 WFS1,WFS1 EXON Missense_G115S,Missense_G115S exm386346 4 6290751 [A/C] NM_006005,NM_001145853 WFS1,WFS1 EXON Missense_D118A,Missense_D118A exm386348 4 6290774 [A/G] NM_006005,NM_001145853 WFS1,WFS1 EXON Missense_A126T,Missense_A126T exm386350 4 6290798 [A/G] NM_006005,NM_001145853 WFS1,WFS1 EXON Missense_A134T,Missense_A134T exm386354 4 6290847 [T/C] NM_006005,NM_001145853 WFS1,WFS1 EXON Missense_A150V,Missense_A150V exm386360 4 6292945 [A/G] NM_006005,NM_001145853 WFS1,WFS1 EXON Missense_R161Q,Missense_R161Q exm386369 4 6293040 [A/C] NM_006005,NM_001145853 WFS1,WFS1 EXON Missense_K193Q,Missense_K193Q exm386383 4 6293703 [A/G] NM_006005,NM_001145853 WFS1,WFS1 EXON Missense_E231K,Missense_E231K exm386389 4 6296783 [T/C] NM_006005,NM_001145853 WFS1,WFS1 EXON Missense_A243V,Missense_A243V exm386394 4 6296854 [A/G] NM_006005,NM_001145853 WFS1,WFS1 EXON Missense_D267N,Missense_D267N exm386399 4 6296872 [A/G] NM_006005,NM_001145853 WFS1,WFS1 EXON Missense_E273K,Missense_E273K exm386401 4 6296897 [A/C] NM_006005,NM_001145853 WFS1,WFS1 EXON Missense_D281A,Missense_D281A exm386402 4 6296909 [A/G] NM_006005,NM_001145853 WFS1,WFS1 EXON Missense_R285H,Missense_R285H exm386408 4 6302439 [T/C] NM_006005,NM_001145853 WFS1,WFS1 EXON Missense_M306T,Missense_M306T exm2241156 4 6302456 [A/G] NM_006005,NM_001145853 WFS1,WFS1 EXON Missense_M312V,Missense_M312V exm386420 4 6302519 [A/G] NM_006005,NM_001145853 WFS1,WFS1 EXON Missense_V333I,Missense_V333I exm386422 4 6302546 [A/G] NM_006005,NM_001145853 WFS1,WFS1 EXON Missense_A342T,Missense_A342T exm386427 4 6302601 [A/G] NM_006005,NM_001145853 WFS1,WFS1 EXON Missense_C360Y,Missense_C360Y exm386436 4 6302675 [A/G] NM_006005,NM_001145853 WFS1,WFS1 EXON Missense_E385K,Missense_E385K exm2256672 4 6302695 [A/G] NM_006005,NM_001145853 WFS1,WFS1 EXON Synonymous_E391E,Synonymous_E391E exm2076922 4 6302756 [G/C] NM_006005,NM_001145853 WFS1,WFS1 EXON Missense_V412L,Missense_V412L exm386447 4 6302757 [T/C] NM_006005,NM_001145853 WFS1,WFS1 EXON Missense_V412A,Missense_V412A exm386450 4 6302787 [T/C] NM_006005,NM_001145853 WFS1,WFS1 EXON Missense_A422V,Missense_A422V exm386453 4 6302799 [A/G] NM_006005,NM_001145853 WFS1,WFS1 EXON Missense_C426Y,Missense_C426Y exm386456 4 6302816 [G/C] NM_006005,NM_001145853 WFS1,WFS1 EXON Missense_L432V,Missense_L432V exm386458 4 6302819 [A/G] NM_006005,NM_001145853 WFS1,WFS1 EXON Missense_A433T,Missense_A433T exm2275727 4 6302831 [A/G] NM_006005,NM_001145853 WFS1,WFS1 EXON Missense_G437S,Missense_G437S exm386463 4 6302843 [A/G] NM_006005,NM_001145853 WFS1,WFS1 EXON Missense_V441M,Missense_V441M exm386466 4 6302886 [T/C] NM_006005,NM_001145853 WFS1,WFS1 EXON Missense_T455M,Missense_T455M exm386467 4 6302888 [T/C] NM_006005,NM_001145853 WFS1,WFS1 EXON Missense_R456C,Missense_R456C exm386468 4 6302889 [A/G] NM_006005,NM_001145853 WFS1,WFS1 EXON Missense_R456H,Missense_R456H exm386489 4 6303017 [T/C] NM_006005,NM_001145853 WFS1,WFS1 EXON Missense_L499F,Missense_L499F exm-rs1801214 4 6303022 [T/C] NM_006005,NM_001145853 WFS1,WFS1 EXON Synonymous_N500N,Synonymous_N500N exm386495 4 6303072 [A/G] NM_006005,NM_001145853 WFS1,WFS1 EXON Missense_R517H,Missense_R517H exm386500 4 6303119 [T/C] NM_006005,NM_001145853 WFS1,WFS1 EXON Missense_P533S,Missense_P533S exm386505 4 6303155 [A/G] NM_006005,NM_001145853 WFS1,WFS1 EXON Missense_V545M,Missense_V545M exm386510 4 6303197 [A/G] NM_006005,NM_001145853 WFS1,WFS1 EXON Missense_A559T,Missense_A559T exm386528 4 6303282 [A/G] NM_006005,NM_001145853 WFS1,WFS1 EXON Missense_R587Q,Missense_R587Q exm386530 4 6303301 [C/G] NM_006005,NM_001145853 WFS1,WFS1 EXON Missense_E593D,Missense_E593D exm386533 4 6303314 [A/G] NM_006005,NM_001145853 WFS1,WFS1 EXON Missense_A598T,Missense_A598T exm386537 4 6303327 [T/C] NM_006005,NM_001145853 WFS1,WFS1 EXON Missense_A602V,Missense_A602V exm386540 4 6303353 [T/C] NM_006005,NM_001145853 WFS1,WFS1 EXON Missense_R611C,Missense_R611C exm386541 4 6303354 [A/G] NM_006005,NM_001145853 WFS1,WFS1 EXON Missense_R611H,Missense_R611H exm386557 4 6303479 [T/C] NM_006005,NM_001145853 WFS1,WFS1 EXON Missense_R653C,Missense_R653C exm386565 4 6303542 [A/G] NM_006005,NM_001145853 WFS1,WFS1 EXON Missense_G674R,Missense_G674R exm386566 4 6303548 [T/C] NM_006005,NM_001145853 WFS1,WFS1 EXON Missense_R676C,Missense_R676C exm386570 4 6303561 [A/C] NM_006005,NM_001145853 WFS1,WFS1 EXON Missense_E680A,Missense_E680A exm386573 4 6303576 [A/G] NM_006005,NM_001145853 WFS1,WFS1 EXON Missense_R685H,Missense_R685H exm2273999 4 6303629 [T/C] NM_006005,NM_001145853 WFS1,WFS1 EXON Missense_R703C,Missense_R703C exm386585 4 6303680 [A/G] NM_006005,NM_001145853 WFS1,WFS1 EXON Missense_I720V,Missense_I720V exm386593 4 6303717 [A/G] NM_006005,NM_001145853 WFS1,WFS1 EXON Missense_R732H,Missense_R732H exm386598 4 6303731 [A/G] NM_006005,NM_001145853 WFS1,WFS1 EXON Missense_E737K,Missense_E737K exm386600 4 6303755 [A/G] NM_006005,NM_001145853 WFS1,WFS1 EXON Missense_G745S,Missense_G745S exm2076940 4 6303776 [T/G] NM_006005,NM_001145853 WFS1,WFS1 EXON Nonsense_E752X,Nonsense_E752X exm386604 4 6303788 [T/C] NM_006005,NM_001145853 WFS1,WFS1 EXON Missense_R756C,Missense_R756C exm386606 4 6303836 [T/C] NM_006005,NM_001145853 WFS1,WFS1 EXON Missense_R772C,Missense_R772C exm386608 4 6303849 [T/A] NM_006005,NM_001145853 WFS1,WFS1 EXON Missense_E776V,Missense_E776V exm386609 4 6303857 [A/G] NM_006005,NM_001145853 WFS1,WFS1 EXON Missense_V779M,Missense_V779M exm386610 4 6303869 [T/C] NM_006005,NM_001145853 WFS1,WFS1 EXON Missense_F783L,Missense_F783L exm386612 4 6303878 [A/G] NM_006005,NM_001145853 WFS1,WFS1 EXON Missense_G786S,Missense_G786S exm386626 4 6303974 [T/C] NM_006005,NM_001145853 WFS1,WFS1 EXON Missense_R818C,Missense_R818C exm386631 4 6304016 [T/C] NM_006005,NM_001145853 WFS1,WFS1 EXON Missense_R832C,Missense_R832C exm386636 4 6304085 [T/C] NM_006005,NM_001145853 WFS1,WFS1 EXON Missense_S855P,Missense_S855P exm386641 4 6304118 [A/G] NM_006005,NM_001145853 WFS1,WFS1 EXON Missense_D866N,Missense_D866N exm386642 4 6304124 [T/C] NM_006005,NM_001145853 WFS1,WFS1 EXON Missense_R868C,Missense_R868C exm386645 4 6304133 [A/G] NM_006005,NM_001145853 WFS1,WFS1 EXON Missense_V871M,Missense_V871M exm386646 4 6304143 [G/C] NM_006005,NM_001145853 WFS1,WFS1 EXON Missense_A874G,Missense_A874G exm386649 4 6304149 [A/C] NM_006005,NM_001145853 WFS1,WFS1 EXON Missense_K876T,Missense_K876T exm2076954 4 6325177 [T/C] NM_001206996,NM_181876,NM_001206994,NM_001206995 PPP2R2C,PPP2R2C,PPP2R2C,PPP2R2C EXON Missense_R382H,Missense_R399H,Missense_R392H,Missense_R392H exm386676 4 6325320 [A/G] NM_001206996,NM_181876,NM_001206994,NM_001206995 PPP2R2C,PPP2R2C,PPP2R2C,PPP2R2C EXON Synonymous_S334S,Synonymous_S351S,Synonymous_S344S,Synonymous_S344S exm386712 4 6377569 [T/G] NM_001206996,NM_181876,NM_001206994,NM_001206995 PPP2R2C,PPP2R2C,PPP2R2C,PPP2R2C EXON Missense_L125M,Missense_L142M,Missense_L135M,Missense_L135M exm386725 4 6383507 [A/G] NM_001206996,NM_181876,NM_001206994,NM_001206995 PPP2R2C,PPP2R2C,PPP2R2C,PPP2R2C EXON Silent,Missense_P23S,Silent,Silent exm386726 4 6383518 [A/G] NM_001206996,NM_181876,NM_001206994,NM_001206995 PPP2R2C,PPP2R2C,PPP2R2C,PPP2R2C EXON Silent,Missense_A19V,Silent,Silent exm386727 4 6383520 [T/C] NM_001206996,NM_181876,NM_001206994,NM_001206995 PPP2R2C,PPP2R2C,PPP2R2C,PPP2R2C EXON Silent,Nonsense_W18X,Silent,Silent exm386728 4 6383527 [T/G] NM_001206996,NM_181876,NM_001206994,NM_001206995 PPP2R2C,PPP2R2C,PPP2R2C,PPP2R2C EXON Silent,Missense_Q16P,Silent,Silent exm386735 4 6577023 [T/C] NM_015274 MAN2B2 EXON Missense_A29V exm386736 4 6577049 [A/G] NM_015274 MAN2B2 EXON Missense_D38N exm386738 4 6577074 [A/G] NM_015274 MAN2B2 EXON Missense_Q46R exm2275728 4 6578326 [A/G] NM_015274 MAN2B2 EXON Missense_A54T exm386746 4 6578407 [T/C] NM_015274 MAN2B2 EXON Missense_R81W exm386754 4 6580124 [A/G] NM_015274 MAN2B2 EXON Missense_R97H exm386776 4 6588848 [A/G] NM_015274 MAN2B2 EXON Missense_G173S exm386777 4 6588852 [T/C] NM_015274 MAN2B2 EXON Missense_S174F exm386778 4 6588866 [A/G] NM_015274 MAN2B2 EXON Missense_D179N exm386784 4 6590835 [T/A] NM_015274 MAN2B2 EXON Missense_I210F exm386801 4 6595052 [A/G] NM_015274 MAN2B2 EXON Missense_R278Q exm386807 4 6596307 [A/T] NM_015274 MAN2B2 EXON Missense_M302K exm386810 4 6596345 [A/G] NM_015274 MAN2B2 EXON Missense_E315K exm386812 4 6596360 [A/G] NM_015274 MAN2B2 EXON Missense_V320M exm386813 4 6596373 [T/C] NM_015274 MAN2B2 EXON Missense_T324M exm386815 4 6596385 [A/G] NM_015274 MAN2B2 EXON Missense_Y328C exm2265664 4 6598184 [A/G] NM_015274 MAN2B2 Silent exm386824 4 6598875 [T/C] NM_015274 MAN2B2 EXON Missense_R365C exm386827 4 6598944 [T/C] NM_015274 MAN2B2 EXON Missense_R388C exm386833 4 6599022 [A/G] NM_015274 MAN2B2 EXON Missense_V414I exm386834 4 6599928 [A/C] NM_015274 MAN2B2 EXON Missense_Q418K exm386836 4 6599998 [T/C] NM_015274 MAN2B2 EXON Missense_S441L exm386839 4 6600012 [A/G] NM_015274 MAN2B2 EXON Missense_M446V exm386840 4 6600015 [C/G] NM_015274 MAN2B2 EXON Missense_R447G exm386841 4 6600070 [T/C] NM_015274 MAN2B2 EXON Missense_A465V exm386845 4 6602356 [A/G] NM_015274 MAN2B2 EXON Missense_G471E exm386852 4 6602446 [A/G] NM_015274 MAN2B2 EXON Missense_R501H exm386864 4 6606941 [T/C] NM_015274 MAN2B2 EXON Missense_R567C exm2077135 4 6606957 [A/G] NM_015274 MAN2B2 EXON Missense_R572H exm386867 4 6607008 [T/C] NM_015274 MAN2B2 EXON Missense_I589T exm386871 4 6607046 [A/G] NM_015274 MAN2B2 EXON Missense_I602V exm386878 4 6610905 [T/G] NM_015274 MAN2B2 EXON Missense_G629V exm386879 4 6610918 [T/A] NM_015274 MAN2B2 EXON Missense_D633E exm2077138 4 6610935 [T/C] NM_015274 MAN2B2 EXON Missense_P639L exm386882 4 6610949 [A/G] NM_015274 MAN2B2 EXON Missense_V644M exm386887 4 6611009 [T/C] NM_015274 MAN2B2 EXON Missense_R664W exm386889 4 6611530 [T/C] NM_015274 MAN2B2 EXON Missense_M671T exm386890 4 6611540 [T/G] NM_015274 MAN2B2 EXON Missense_Q674H exm386891 4 6611544 [T/C] NM_015274 MAN2B2 EXON Missense_Y676H exm386892 4 6611560 [A/G] NM_015274 MAN2B2 EXON Missense_R681H exm386897 4 6611622 [G/C] NM_015274 MAN2B2 EXON Missense_Q702E exm386903 4 6611776 [A/G] NM_015274 MAN2B2 EXON Missense_R753Q exm2077146 4 6612676 [T/C] NM_015274 MAN2B2 EXON Missense_R777W exm386910 4 6612710 [A/G] NM_015274 MAN2B2 EXON Missense_Q788R exm386916 4 6612871 [T/C] NM_015274 MAN2B2 EXON Missense_T810M exm386921 4 6612946 [A/G] NM_015274 MAN2B2 EXON Missense_R835H exm386924 4 6612964 [T/C] NM_015274 MAN2B2 EXON Missense_A841V exm386927 4 6612981 [A/G] NM_015274 MAN2B2 EXON Missense_V847M exm386928 4 6615954 [A/C] NM_015274 MAN2B2 EXON Missense_P858Q exm386931 4 6615983 [A/G] NM_015274 MAN2B2 EXON Missense_A868T exm386936 4 6616037 [T/C] NM_015274 MAN2B2 EXON Missense_R886C exm386937 4 6616038 [A/G] NM_015274 MAN2B2 EXON Missense_R886H exm386938 4 6616056 [T/C] NM_015274 MAN2B2 EXON Missense_T892M exm386940 4 6616076 [T/C] NM_015274 MAN2B2 EXON Missense_R899W exm386941 4 6616077 [A/G] NM_015274 MAN2B2 EXON Missense_R899Q exm386946 4 6619139 [T/C] NM_015274 MAN2B2 EXON Missense_R912C exm386947 4 6619152 [A/G] NM_015274 MAN2B2 EXON Missense_R916Q exm2256680 4 6619165 [A/G] NM_015274 MAN2B2 EXON Synonymous_L920L exm386961 4 6621751 [T/C] NM_015274 MAN2B2 EXON Missense_T971M exm2265818 4 6623332 [A/G] NM_015274 MAN2B2 EXON Silent exm386983 4 6642843 [T/C] NM_001272054,NM_033296,NM_001272053 MRFAP1,MRFAP1,MRFAP1 EXON Missense_P85L,Missense_P85L,Missense_P85L exm386997 4 6695699 [A/G] NM_005980 S100P EXON Missense_V14I exm387003 4 6695739 [T/C] NM_005980 S100P EXON Missense_T27I exm387006 4 6698641 [A/G] NM_005980 S100P EXON Missense_V54M exm2077248 4 6698663 [T/C] NM_005980 S100P EXON Missense_L61P exm387024 4 6711199 [T/G] NM_203462 MRFAP1L1 EXON Missense_T53N exm387027 4 6711260 [T/G] NM_203462 MRFAP1L1 EXON Missense_N33H exm387029 4 6711290 [T/C] NM_203462 MRFAP1L1 EXON Missense_D23N exm387030 4 6711295 [T/C] NM_203462 MRFAP1L1 EXON Missense_E21G exm387053 4 6718502 [T/C] NM_018366 BLOC1S4 EXON Missense_S189L exm2273386 4 6718775 [T/G] NM_018366 BLOC1S4 EXON Silent exm387074 4 6826228 [G/C] NM_001100590,NM_014743 KIAA0232,KIAA0232 EXON Missense_S16R,Missense_S16R exm387080 4 6843931 [A/G] NM_001100590,NM_014743 KIAA0232,KIAA0232 EXON Synonymous_E123E,Synonymous_E123E exm387089 4 6862791 [G/C] NM_001100590,NM_014743 KIAA0232,KIAA0232 EXON Missense_E228Q,Missense_E228Q exm387106 4 6863215 [T/C] NM_001100590,NM_014743 KIAA0232,KIAA0232 EXON Missense_P369L,Missense_P369L exm387107 4 6863251 [T/C] NM_001100590,NM_014743 KIAA0232,KIAA0232 EXON Missense_T381I,Missense_T381I exm387110 4 6863288 [A/C] NM_001100590,NM_014743 KIAA0232,KIAA0232 EXON Missense_D393E,Missense_D393E exm2077454 4 6863490 [A/G] NM_001100590,NM_014743 KIAA0232,KIAA0232 EXON Missense_A461T,Missense_A461T exm387123 4 6863742 [A/G] NM_001100590,NM_014743 KIAA0232,KIAA0232 EXON Missense_T545A,Missense_T545A exm387128 4 6863846 [T/A] NM_001100590,NM_014743 KIAA0232,KIAA0232 EXON Missense_L579F,Missense_L579F exm387129 4 6863866 [A/G] NM_001100590,NM_014743 KIAA0232,KIAA0232 EXON Missense_N586S,Missense_N586S exm2077457 4 6864022 [T/C] NM_001100590,NM_014743 KIAA0232,KIAA0232 EXON Missense_I638T,Missense_I638T exm387136 4 6864162 [A/C] NM_001100590,NM_014743 KIAA0232,KIAA0232 EXON Missense_Q685K,Missense_Q685K exm387139 4 6864477 [T/C] NM_001100590,NM_014743 KIAA0232,KIAA0232 EXON Missense_S790P,Missense_S790P exm387143 4 6864510 [G/C] NM_001100590,NM_014743 KIAA0232,KIAA0232 EXON Missense_E801Q,Missense_E801Q exm387145 4 6864544 [A/G] NM_001100590,NM_014743 KIAA0232,KIAA0232 EXON Missense_N812S,Missense_N812S exm387146 4 6864556 [A/C] NM_001100590,NM_014743 KIAA0232,KIAA0232 EXON Missense_H816P,Missense_H816P exm387149 4 6864690 [T/C] NM_001100590,NM_014743 KIAA0232,KIAA0232 EXON Missense_C861R,Missense_C861R exm387153 4 6864814 [A/C] NM_001100590,NM_014743 KIAA0232,KIAA0232 EXON Missense_E902A,Missense_E902A exm387154 4 6864815 [T/G] NM_001100590,NM_014743 KIAA0232,KIAA0232 EXON Missense_E902D,Missense_E902D exm387182 4 6865507 [T/C] NM_001100590,NM_014743 KIAA0232,KIAA0232 EXON Missense_A1133V,Missense_A1133V exm387184 4 6865521 [T/C] NM_001100590,NM_014743 KIAA0232,KIAA0232 EXON Missense_P1138S,Missense_P1138S exm387190 4 6865797 [T/G] NM_001100590,NM_014743 KIAA0232,KIAA0232 EXON Missense_C1230G,Missense_C1230G exm387194 4 6878465 [A/G] NM_001100590,NM_014743 KIAA0232,KIAA0232 EXON Missense_R1330H,Missense_R1330H exm387195 4 6882548 [A/G] NM_001100590,NM_014743 KIAA0232,KIAA0232 EXON Missense_E1348G,Missense_E1348G exm387196 4 6882580 [T/C] NM_001100590,NM_014743 KIAA0232,KIAA0232 EXON Missense_R1359C,Missense_R1359C exm387210 4 6925198 [C/G] NM_001113361,NM_020773 TBC1D14,TBC1D14 EXON Missense_Q28E,Missense_Q28E exm387216 4 6925237 [G/C] NM_001113361,NM_020773 TBC1D14,TBC1D14 EXON Missense_L41V,Missense_L41V exm387221 4 6925270 [T/C] NM_001113361,NM_020773 TBC1D14,TBC1D14 EXON Missense_L52F,Missense_L52F exm387228 4 6925369 [T/C] NM_001113361,NM_020773 TBC1D14,TBC1D14 EXON Missense_H85Y,Missense_H85Y exm387240 4 6925490 [A/G] NM_001113361,NM_020773 TBC1D14,TBC1D14 EXON Missense_R125H,Missense_R125H exm387248 4 6925553 [A/G] NM_001113361,NM_020773 TBC1D14,TBC1D14 EXON Missense_K146R,Missense_K146R exm387254 4 6925591 [A/G] NM_001113361,NM_020773 TBC1D14,TBC1D14 EXON Missense_V159M,Missense_V159M exm387258 4 6925654 [G/C] NM_001113361,NM_020773 TBC1D14,TBC1D14 EXON Missense_L180V,Missense_L180V exm387264 4 6925738 [A/G] NM_001113361,NM_020773 TBC1D14,TBC1D14 EXON Missense_I208V,Missense_I208V exm2077616 4 6925790 [A/T] NM_001113361,NM_020773 TBC1D14,TBC1D14 EXON Missense_E225V,Missense_E225V exm387267 4 6969075 [A/G] NM_001113361,NM_020773 TBC1D14,TBC1D14 EXON Missense_N256S,Missense_N256S exm387269 4 6969090 [A/G] NM_001113361,NM_020773 TBC1D14,TBC1D14 EXON Missense_K261R,Missense_K261R exm387281 4 7002872 [A/G] NM_001113361,NM_020773,NM_001113363 TBC1D14,TBC1D14,TBC1D14 EXON Missense_M388I,Missense_M388I,Missense_M108I exm2241213 4 7006607 [A/G] NM_001113361,NM_020773,NM_001113363 TBC1D14,TBC1D14,TBC1D14 EXON Missense_R436K,Missense_R436K,Missense_R156K exm387288 4 7006636 [G/C] NM_001113361,NM_020773,NM_001113363 TBC1D14,TBC1D14,TBC1D14 EXON Missense_E446Q,Missense_E446Q,Missense_E166Q exm387289 4 7008380 [A/G] NM_001113361,NM_020773,NM_001113363 TBC1D14,TBC1D14,TBC1D14 EXON Missense_D458G,Missense_D458G,Missense_D178G exm387327 4 7043099 [A/G] NR_033828,NM_153376 LOC100129931,CCDC96 EXON Silent,Missense_R523W exm387336 4 7043350 [A/C] NR_033828,NM_153376 LOC100129931,CCDC96 EXON Silent,Missense_S439I exm387342 4 7043546 [G/C] NR_033828,NM_153376 LOC100129931,CCDC96 EXON Silent,Missense_A374P exm387344 4 7043594 [T/C] NR_033828,NM_153376 LOC100129931,CCDC96 EXON Silent,Missense_V358M exm387347 4 7043778 [G/C] NR_033828,NM_153376 LOC100129931,CCDC96 EXON Silent,Missense_K296N exm2256698 4 7043795 [A/G] NR_033828,NM_153376 LOC100129931,CCDC96 EXON Silent,Synonymous_L291L exm387349 4 7043795 [A/G] NR_033828,NM_153376 LOC100129931,CCDC96 EXON Silent,Synonymous_L291L exm387350 4 7043830 [T/C] NR_033828,NM_153376 LOC100129931,CCDC96 EXON Silent,Missense_E279G exm2077923 4 7043945 [T/G] NR_033828,NM_153376 LOC100129931,CCDC96 EXON Silent,Missense_R241S exm2077926 4 7044006 [A/C] NR_033828,NM_153376 LOC100129931,CCDC96 EXON Silent,Missense_Q220H exm387387 4 7055802 [C/G] NM_152293 TADA2B EXON Missense_A95G exm387391 4 7055910 [A/G] NM_152293 TADA2B EXON Missense_R131H exm387421 4 7062677 [T/C] NM_025196 GRPEL1 EXON Missense_G189D exm387423 4 7062707 [T/A] NM_025196 GRPEL1 EXON Missense_F179Y exm387426 4 7062786 [T/C] NM_025196 GRPEL1 EXON Missense_K153E exm387431 4 7062894 [T/C] NM_025196 GRPEL1 EXON Missense_V117I exm387436 4 7064113 [A/G] NM_025196 GRPEL1 EXON Synonymous_Y102Y exm387437 4 7064126 [T/G] NM_025196 GRPEL1 EXON Missense_E98A exm387447 4 7069729 [A/G] NM_025196 GRPEL1 EXON Missense_R11C exm-rs4234798 4 7219933 [T/G] NM_020777 SORCS2 Silent exm2261751 4 7266856 [T/G] NM_020777 SORCS2 Silent exm387460 4 7398031 [T/C] NM_020777 SORCS2 EXON Missense_T166M exm387464 4 7435058 [T/C] NM_020777,NM_001085382 SORCS2,PSAPL1 EXON Silent,Missense_A517T exm387475 4 7435178 [A/G] NM_020777,NM_001085382 SORCS2,PSAPL1 EXON Silent,Synonymous_L477L exm2256717 4 7435179 [A/C] NM_020777,NM_001085382 SORCS2,PSAPL1 EXON Silent,Synonymous_L476L exm387484 4 7435244 [C/G] NM_020777,NM_001085382 SORCS2,PSAPL1 EXON Silent,Missense_D455H exm387485 4 7435258 [A/G] NM_020777,NM_001085382 SORCS2,PSAPL1 EXON Silent,Missense_I450T exm387499 4 7435441 [A/G] NM_020777,NM_001085382 SORCS2,PSAPL1 EXON Silent,Missense_A389V exm387503 4 7435486 [T/G] NM_020777,NM_001085382 SORCS2,PSAPL1 EXON Silent,Missense_A374E exm387506 4 7435516 [T/C] NM_020777,NM_001085382 SORCS2,PSAPL1 EXON Silent,Missense_R364H exm387516 4 7435721 [T/C] NM_020777,NM_001085382 SORCS2,PSAPL1 EXON Silent,Missense_V296M exm387518 4 7435754 [T/C] NM_020777,NM_001085382 SORCS2,PSAPL1 EXON Silent,Missense_E285K exm387523 4 7435805 [A/C] NM_020777,NM_001085382 SORCS2,PSAPL1 EXON Silent,Missense_A268S exm387527 4 7435823 [A/G] NM_020777,NM_001085382 SORCS2,PSAPL1 EXON Silent,Missense_R262C exm387528 4 7435825 [A/G] NM_020777,NM_001085382 SORCS2,PSAPL1 EXON Silent,Missense_A261V exm387532 4 7435886 [A/G] NM_020777,NM_001085382 SORCS2,PSAPL1 EXON Silent,Missense_L241F exm387533 4 7435887 [C/G] NM_020777,NM_001085382 SORCS2,PSAPL1 EXON Silent,Missense_R240S exm387537 4 7435943 [T/C] NM_020777,NM_001085382 SORCS2,PSAPL1 EXON Silent,Missense_V222I exm2256718 4 7435968 [A/G] NM_020777,NM_001085382 SORCS2,PSAPL1 EXON Silent,Synonymous_C213C exm387541 4 7436011 [T/C] NM_020777,NM_001085382 SORCS2,PSAPL1 EXON Silent,Missense_R199Q exm387545 4 7436080 [T/C] NM_020777,NM_001085382 SORCS2,PSAPL1 EXON Silent,Missense_R176H exm2078818 4 7436126 [T/C] NM_020777,NM_001085382 SORCS2,PSAPL1 EXON Silent,Missense_A161T exm387548 4 7436182 [A/G] NM_020777,NM_001085382 SORCS2,PSAPL1 EXON Silent,Missense_P142L exm387553 4 7436294 [T/C] NM_020777,NM_001085382 SORCS2,PSAPL1 EXON Silent,Missense_A105T exm387554 4 7436312 [A/G] NM_020777,NM_001085382 SORCS2,PSAPL1 EXON Silent,Missense_P99S exm2078823 4 7436362 [A/G] NM_020777,NM_001085382 SORCS2,PSAPL1 EXON Silent,Missense_A82V exm387558 4 7436363 [T/C] NM_020777,NM_001085382 SORCS2,PSAPL1 EXON Silent,Missense_A82T exm2256719 4 7436415 [A/G] NM_020777,NM_001085382 SORCS2,PSAPL1 EXON Silent,Synonymous_C64C exm387571 4 7436486 [A/C] NM_020777,NM_001085382 SORCS2,PSAPL1 EXON Silent,Missense_A41S exm2265665 4 7624478 [A/G] NM_020777 SORCS2 Silent exm387599 4 7666160 [A/G] NM_020777 SORCS2 EXON Missense_G345R exm387601 4 7666170 [T/C] NM_020777 SORCS2 EXON Missense_T348I exm387603 4 7666180 [A/C] NM_020777 SORCS2 EXON Missense_D351E exm387633 4 7684552 [A/G] NM_020777 SORCS2 EXON Missense_R475H exm387636 4 7684579 [T/G] NM_020777 SORCS2 EXON Missense_S484I exm387642 4 7691291 [A/G] NM_020777 SORCS2 EXON Missense_A523T exm387645 4 7698969 [A/G] NM_020777 SORCS2 EXON Missense_I546V exm387650 4 7705923 [G/C] NM_020777 SORCS2 EXON Missense_L594V exm387652 4 7705957 [T/C] NM_020777 SORCS2 EXON Missense_S605L exm387654 4 7705999 [T/C] NM_020777 SORCS2 EXON Missense_T619M exm2275729 4 7715993 [A/G] NM_020777 SORCS2 EXON Synonymous_Q672Q exm387666 4 7716061 [T/C] NM_020777 SORCS2 EXON Missense_T695M exm387671 4 7716910 [T/C] NM_020777 SORCS2 EXON Synonymous_C708C exm387672 4 7716913 [G/C] NM_020777 SORCS2 EXON Missense_D709E exm387675 4 7716932 [T/C] NM_020777 SORCS2 EXON Missense_S716P exm387677 4 7716992 [T/C] NM_020777 SORCS2 EXON Missense_P736S exm387681 4 7717020 [T/C] NM_020777 SORCS2 EXON Missense_T745I exm387683 4 7719745 [A/G] NM_020777 SORCS2 EXON Synonymous_R753R exm2256732 4 7719745 [A/G] NM_020777 SORCS2 EXON Synonymous_R753R exm387684 4 7719795 [A/G] NM_020777 SORCS2 EXON Missense_Q770R exm387687 4 7719819 [T/C] NM_020777 SORCS2 EXON Missense_T778M exm387692 4 7719870 [A/G] NM_020777 SORCS2 EXON Missense_R795Q exm387713 4 7725608 [A/C] NM_020777 SORCS2 EXON Missense_N870T exm387719 4 7726982 [A/G] NM_020777 SORCS2 EXON Missense_V905I exm387725 4 7728553 [T/C] NM_020777 SORCS2 EXON Missense_T931M exm387727 4 7728561 [A/G] NM_020777 SORCS2 EXON Missense_V934M exm387731 4 7730137 [A/C] NM_020777 SORCS2 EXON Missense_T977N exm387743 4 7731429 [T/C] NM_020777 SORCS2 EXON Missense_S1033L exm387745 4 7735055 [C/G] NM_020777 SORCS2 EXON Missense_A1039P exm387746 4 7735058 [G/C] NM_020777 SORCS2 EXON Missense_A1040P exm387761 4 7741941 [A/G] NM_020777 SORCS2 EXON Missense_V1144M exm2275332 4 7765492 [G/C] NR_026892,NM_198595,NM_001134647 AFAP1-AS1,AFAP1,AFAP1 EXON Silent,Missense_X731Y,Missense_X815Y exm387773 4 7770600 [A/T] NR_026892,NM_198595,NM_001134647 AFAP1-AS1,AFAP1,AFAP1 EXON Silent,Missense_C713S,Missense_C797S exm2079627 4 7770645 [T/C] NR_026892,NM_198595,NM_001134647 AFAP1-AS1,AFAP1,AFAP1 EXON Silent,Missense_A698T,Missense_A782T exm387778 4 7770660 [T/C] NR_026892,NM_198595,NM_001134647 AFAP1-AS1,AFAP1,AFAP1 EXON Silent,Missense_V693M,Missense_V777M exm387800 4 7774681 [A/G] NR_026892,NM_198595,NM_001134647 AFAP1-AS1,AFAP1,AFAP1 EXON Silent,Missense_R623W,Missense_R707W exm387805 4 7774707 [T/C] NR_026892,NM_198595,NM_001134647 AFAP1-AS1,AFAP1,AFAP1 EXON Silent,Missense_K614R,Missense_K698R exm387807 4 7774722 [A/G] NR_026892,NM_198595,NM_001134647 AFAP1-AS1,AFAP1,AFAP1 EXON Silent,Missense_A609V,Missense_A693V exm387809 4 7776466 [T/C] NR_026892,NM_198595,NM_001134647 AFAP1-AS1,AFAP1,AFAP1 EXON Silent,Missense_G604S,Missense_G688S exm387813 4 7776580 [A/G] NR_026892,NM_198595,NM_001134647 AFAP1-AS1,AFAP1,AFAP1 EXON Silent,Missense_R566W,Missense_R650W exm2079646 4 7780490 [T/C] NR_026892,NM_198595,NM_001134647 AFAP1-AS1,AFAP1,AFAP1 EXON Silent,Synonymous_S548S,Synonymous_S632S exm387814 4 7780497 [A/G] NR_026892,NM_198595,NM_001134647 AFAP1-AS1,AFAP1,AFAP1 EXON Silent,Missense_T546M,Missense_T630M exm387818 4 7780524 [A/G] NR_026892,NM_198595,NM_001134647 AFAP1-AS1,AFAP1,AFAP1 EXON Silent,Missense_A537V,Missense_A621V exm387823 4 7780582 [T/C] NR_026892,NM_198595,NM_001134647 AFAP1-AS1,AFAP1,AFAP1 EXON Silent,Missense_V518M,Missense_V602M exm387833 4 7783273 [T/C] NM_198595,NM_001134647 AFAP1,AFAP1 EXON Silent,Missense_D538N exm2241309 4 7795447 [A/G] NM_198595,NM_001134647 AFAP1,AFAP1 EXON Missense_M458T,Missense_M458T exm387862 4 7802206 [T/C] NM_198595,NM_001134647 AFAP1,AFAP1 EXON Missense_R410Q,Missense_R410Q exm387865 4 7802227 [C/G] NM_198595,NM_001134647 AFAP1,AFAP1 EXON Missense_S403C,Missense_S403C exm387867 4 7802257 [T/C] NM_198595,NM_001134647 AFAP1,AFAP1 EXON Missense_R393H,Missense_R393H exm387873 4 7802342 [A/G] NM_198595,NM_001134647 AFAP1,AFAP1 EXON Missense_R365C,Missense_R365C exm387875 4 7802347 [T/C] NM_198595,NM_001134647 AFAP1,AFAP1 EXON Missense_R363Q,Missense_R363Q exm387881 4 7811381 [G/C] NM_198595,NM_001134647 AFAP1,AFAP1 EXON Missense_D338E,Missense_D338E exm387883 4 7811466 [A/G] NM_198595,NM_001134647 AFAP1,AFAP1 EXON Missense_S310L,Missense_S310L exm387918 4 7845062 [A/G] NM_198595,NM_001134647 AFAP1,AFAP1 EXON Missense_A117V,Missense_A117V exm387925 4 7857293 [G/C] NM_198595,NM_001134647 AFAP1,AFAP1 EXON Missense_D78E,Missense_D78E exm-rs7437940 4 7887500 [T/C] NM_198595,NM_001134647 AFAP1,AFAP1 Silent,Silent exm387950 4 7968803 [T/C] NM_001130087,NM_001130084,NM_001130083,NM_032432,NM_001130085,NM_001130086 ABLIM2,ABLIM2,ABLIM2,ABLIM2,ABLIM2,ABLIM2 EXON Missense_E504K,Missense_E584K,Missense_E618K,Missense_E494K,Missense_E545K,Missense_E532K exm387952 4 7968820 [A/G] NM_001130087,NM_001130084,NM_001130083,NM_032432,NM_001130085,NM_001130086 ABLIM2,ABLIM2,ABLIM2,ABLIM2,ABLIM2,ABLIM2 EXON Missense_S498L,Missense_S578L,Missense_S612L,Missense_S488L,Missense_S539L,Missense_S526L exm387956 4 7985047 [T/C] NM_001130087,NM_001130084,NM_001130083,NM_032432,NM_001130085,NM_001130086 ABLIM2,ABLIM2,ABLIM2,ABLIM2,ABLIM2,ABLIM2 EXON Missense_V476I,Missense_V556I,Missense_V590I,Missense_V466I,Missense_V517I,Missense_V504I exm387976 4 7994594 [T/C] NM_001130087,NM_001130084,NM_001130083,NM_032432,NM_001130085,NM_001130086 ABLIM2,ABLIM2,ABLIM2,ABLIM2,ABLIM2,ABLIM2 EXON Silent,Missense_R526Q,Missense_R560Q,Silent,Silent,Missense_R474Q exm388016 4 8022016 [A/G] NM_001130087,NM_001130084,NM_001130083,NM_032432,NM_001130085,NM_001130086,NM_001130088 ABLIM2,ABLIM2,ABLIM2,ABLIM2,ABLIM2,ABLIM2,ABLIM2 EXON Silent,Missense_R395W,Missense_R428W,Silent,Missense_R395W,Silent,Silent exm388037 4 8037944 [A/G] NM_001130087,NM_001130084,NM_001130083,NM_032432,NM_001130085,NM_001130086,NM_001130088 ABLIM2,ABLIM2,ABLIM2,ABLIM2,ABLIM2,ABLIM2,ABLIM2 EXON Missense_R327C,Missense_R327C,Missense_R327C,Missense_R327C,Missense_R327C,Missense_R327C,Missense_R327C exm388065 4 8082416 [T/C] NM_001130087,NM_001130084,NM_001130083,NM_032432,NM_001130085,NM_001130086,NM_001130088 ABLIM2,ABLIM2,ABLIM2,ABLIM2,ABLIM2,ABLIM2,ABLIM2 EXON Missense_E190K,Missense_E190K,Missense_E190K,Missense_E190K,Missense_E190K,Missense_E190K,Missense_E190K exm388067 4 8082472 [T/C] NM_001130087,NM_001130084,NM_001130083,NM_032432,NM_001130085,NM_001130086,NM_001130088 ABLIM2,ABLIM2,ABLIM2,ABLIM2,ABLIM2,ABLIM2,ABLIM2 EXON Missense_K171R,Missense_K171R,Missense_K171R,Missense_K171R,Missense_K171R,Missense_K171R,Missense_K171R exm388073 4 8089898 [T/C] NM_001130087,NM_001130084,NM_001130083,NM_032432,NM_001130085,NM_001130086,NM_001130088 ABLIM2,ABLIM2,ABLIM2,ABLIM2,ABLIM2,ABLIM2,ABLIM2 EXON Missense_R151Q,Missense_R151Q,Missense_R151Q,Missense_R151Q,Missense_R151Q,Missense_R151Q,Missense_R151Q exm388076 4 8089932 [T/C] NM_001130087,NM_001130084,NM_001130083,NM_032432,NM_001130085,NM_001130086,NM_001130088 ABLIM2,ABLIM2,ABLIM2,ABLIM2,ABLIM2,ABLIM2,ABLIM2 EXON Missense_V140M,Missense_V140M,Missense_V140M,Missense_V140M,Missense_V140M,Missense_V140M,Missense_V140M exm388086 4 8098926 [T/C] NM_001130087,NM_001130084,NM_001130083,NM_032432,NM_001130085,NM_001130086,NM_001130088 ABLIM2,ABLIM2,ABLIM2,ABLIM2,ABLIM2,ABLIM2,ABLIM2 EXON Missense_G80S,Missense_G80S,Missense_G80S,Missense_G80S,Missense_G80S,Missense_G80S,Missense_G80S exm2256744 4 8116782 [T/C] NM_001130087,NM_001130084,NM_001130083,NM_032432,NM_001130085,NM_001130086,NM_001130088 ABLIM2,ABLIM2,ABLIM2,ABLIM2,ABLIM2,ABLIM2,ABLIM2 Silent,Silent,Silent,Silent,Silent,Silent,Silent exm388103 4 8207058 [T/C] NM_018986 SH3TC1 EXON Missense_A46V exm388129 4 8214511 [T/C] NM_018986 SH3TC1 EXON Missense_R111C exm388133 4 8214545 [A/G] NM_018986 SH3TC1 EXON Missense_R122H exm388134 4 8214553 [A/G] NM_018986 SH3TC1 EXON Missense_G125R exm388138 4 8216244 [T/C] NM_018986 SH3TC1 EXON Missense_R140W exm388144 4 8216307 [A/G] NM_018986 SH3TC1 EXON Missense_G161S exm388152 4 8217963 [A/G] NM_018986 SH3TC1 EXON Missense_E203K exm2080297 4 8218727 [A/G] NM_018986 SH3TC1 EXON Missense_M224I exm388160 4 8218737 [T/C] NM_018986 SH3TC1 EXON Missense_R228W exm388169 4 8218825 [T/C] NM_018986 SH3TC1 EXON Missense_P257L exm388170 4 8218840 [T/C] NM_018986 SH3TC1 EXON Missense_S262F exm388173 4 8218866 [A/G] NM_018986 SH3TC1 EXON Missense_A271T exm388175 4 8218870 [T/C] NM_018986 SH3TC1 EXON Missense_P272L exm388180 4 8220029 [A/G] NM_018986 SH3TC1 EXON Missense_D291N exm388192 4 8221124 [T/C] NM_018986 SH3TC1 EXON Nonsense_R327X exm388201 4 8221220 [T/C] NM_018986 SH3TC1 EXON Missense_R359W exm388207 4 8224651 [T/G] NM_018986 SH3TC1 EXON Missense_L399F exm2080317 4 8224665 [T/C] NM_018986 SH3TC1 EXON Missense_S404L exm388224 4 8228731 [T/C] NM_018986 SH3TC1 EXON Missense_L437P exm388229 4 8228862 [A/G] NM_018986 SH3TC1 EXON Missense_E481K exm388234 4 8228979 [A/G] NM_018986 SH3TC1 EXON Missense_D520N exm388247 4 8229105 [T/C] NM_018986 SH3TC1 EXON Missense_L562F exm2080325 4 8229123 [A/C] NM_018986 SH3TC1 EXON Synonymous_R568R exm388248 4 8229140 [T/G] NM_018986 SH3TC1 EXON Missense_R573S exm388256 4 8229243 [A/G] NM_018986 SH3TC1 EXON Missense_A608T exm388257 4 8229270 [T/C] NM_018986 SH3TC1 EXON Missense_R617W exm388262 4 8229322 [T/C] NM_018986 SH3TC1 EXON Missense_T634M exm388264 4 8229349 [T/C] NM_018986 SH3TC1 EXON Missense_A643V exm388290 4 8229741 [T/G] NM_018986 SH3TC1 EXON Missense_A774S exm388296 4 8229817 [A/G] NM_018986 SH3TC1 EXON Missense_H799R exm388298 4 8229844 [T/C] NM_018986 SH3TC1 EXON Missense_F808S exm388299 4 8229850 [T/C] NM_018986 SH3TC1 EXON Missense_T810M exm388304 4 8229879 [A/G] NM_018986 SH3TC1 EXON Missense_G820R exm388306 4 8229927 [A/G] NM_018986 SH3TC1 EXON Missense_V836M exm388321 4 8230084 [A/G] NM_018986 SH3TC1 EXON Missense_R888H exm388331 4 8230212 [T/C] NM_018986 SH3TC1 EXON Missense_R931W exm388336 4 8230245 [A/G] NM_018986 SH3TC1 EXON Missense_G942S exm388343 4 8230347 [A/G] NM_018986 SH3TC1 EXON Missense_A976T exm388351 4 8233750 [A/G] NM_018986 SH3TC1 EXON Missense_M1000V exm388359 4 8233882 [T/C] NM_018986 SH3TC1 EXON Missense_R1044W exm388360 4 8233883 [A/G] NM_018986 SH3TC1 EXON Missense_R1044Q exm388369 4 8235127 [C/G] NM_018986 SH3TC1 EXON Missense_L1057V exm388372 4 8235160 [A/G] NM_018986 SH3TC1 EXON Missense_K1068E exm388376 4 8235184 [C/G] NM_018986 SH3TC1 EXON Missense_A1076P exm388377 4 8235208 [T/C] NM_018986 SH3TC1 EXON Missense_R1084W exm388378 4 8235209 [A/G] NM_018986 SH3TC1 EXON Missense_R1084Q exm388379 4 8235220 [A/C] NM_018986 SH3TC1 EXON Missense_L1088M exm388381 4 8235241 [A/G] NM_018986 SH3TC1 Silent exm388398 4 8238008 [T/C] NM_018986 SH3TC1 EXON Missense_R1137W exm388401 4 8238041 [T/C] NM_018986 SH3TC1 EXON Missense_R1148C exm388403 4 8238048 [T/C] NM_018986 SH3TC1 EXON Missense_A1150V exm388405 4 8238057 [A/G] NM_018986 SH3TC1 EXON Missense_R1153Q exm388408 4 8238090 [T/C] NM_018986 SH3TC1 EXON Missense_T1164M exm2256748 4 8239236 [T/C] NM_018986 SH3TC1 EXON Synonymous_L1198L exm388424 4 8239242 [A/G] NM_018986 SH3TC1 EXON Missense_A1200T exm388430 4 8239318 [T/C] NM_018986 SH3TC1 EXON Missense_P1225L exm388438 4 8239393 [T/C] NM_018986 SH3TC1 EXON Missense_L1250P exm388440 4 8242429 [T/C] NM_018986 SH3TC1 EXON Missense_P1253L exm388441 4 8242443 [A/G] NM_018986 SH3TC1 EXON Missense_G1258R exm388445 4 8242470 [A/G] NM_018986 SH3TC1 EXON Missense_A1267T exm388447 4 8242483 [A/G] NM_018986 SH3TC1 EXON Missense_G1271D exm388450 4 8242551 [T/C] NM_018986 SH3TC1 EXON Missense_R1294C exm388451 4 8242552 [A/G] NM_018986 SH3TC1 EXON Missense_R1294H exm388454 4 8242593 [A/G] NM_018986 SH3TC1 EXON Missense_A1308T exm388460 4 8242657 [T/G] NM_018986 SH3TC1 EXON Missense_W1329L exm388488 4 8288310 [A/G] NM_053044 HTRA3 EXON Missense_V170M exm388493 4 8288376 [A/G] NM_053044 HTRA3 EXON Missense_V192M exm388506 4 8293163 [A/G] NM_053044 HTRA3 EXON Missense_I259V exm388510 4 8293193 [A/G] NM_053044 HTRA3 EXON Missense_V269M exm388511 4 8293200 [T/C] NM_053044 HTRA3 EXON Missense_T271M exm388544 4 8307742 [A/G] NM_053044 HTRA3 EXON Missense_R414H exm388570 4 8372686 [A/G] NM_001101667,NM_003501 ACOX3,ACOX3 EXON Missense_R622C,Synonymous_I644I exm388571 4 8372713 [A/G] NM_001101667,NM_003501 ACOX3,ACOX3 EXON Nonsense_R613X,Synonymous_D635D exm388581 4 8376719 [A/G] NM_001101667,NM_003501 ACOX3,ACOX3 EXON Missense_A605V,Missense_A605V exm388584 4 8376729 [A/G] NM_001101667,NM_003501 ACOX3,ACOX3 EXON Missense_R602C,Missense_R602C exm388593 4 8376867 [A/G] NM_001101667,NM_003501 ACOX3,ACOX3 EXON Missense_R556C,Missense_R556C exm388594 4 8376870 [T/C] NM_001101667,NM_003501 ACOX3,ACOX3 EXON Missense_G555S,Missense_G555S exm388599 4 8383292 [T/C] NM_001101667,NM_003501 ACOX3,ACOX3 EXON Missense_R527Q,Missense_R527Q exm388601 4 8383307 [A/C] NM_001101667,NM_003501 ACOX3,ACOX3 EXON Missense_V522G,Missense_V522G exm2269899 4 8386107 [T/G] NM_001101667,NM_003501 ACOX3,ACOX3 Silent,Silent exm388607 4 8390948 [T/C] NM_001101667,NM_003501 ACOX3,ACOX3 EXON Missense_D497N,Missense_D497N exm388610 4 8390965 [A/G] NM_001101667,NM_003501 ACOX3,ACOX3 EXON Missense_A491V,Missense_A491V exm388614 4 8390992 [A/G] NM_001101667,NM_003501 ACOX3,ACOX3 EXON Missense_P482L,Missense_P482L exm388615 4 8390998 [C/G] NM_001101667,NM_003501 ACOX3,ACOX3 EXON Missense_R480P,Missense_R480P exm388616 4 8390999 [A/G] NM_001101667,NM_003501 ACOX3,ACOX3 EXON Missense_R480C,Missense_R480C exm388621 4 8391339 [T/C] NM_001101667,NM_003501 ACOX3,ACOX3 EXON Missense_D475N,Missense_D475N exm388622 4 8391340 [A/G] NM_001101667,NM_003501 ACOX3,ACOX3 EXON Synonymous_H474H,Synonymous_H474H exm388635 4 8394156 [T/C] NM_001101667,NM_003501 ACOX3,ACOX3 EXON Missense_A402T,Missense_A402T exm388637 4 8394168 [A/G] NM_001101667,NM_003501 ACOX3,ACOX3 EXON Missense_R398C,Missense_R398C exm2276858 4 8396382 [A/G] NM_001101667,NM_003501 ACOX3,ACOX3 EXON Nonsense_R382X,Nonsense_R382X exm388643 4 8396462 [T/C] NM_001101667,NM_003501 ACOX3,ACOX3 EXON Missense_R355H,Missense_R355H exm388651 4 8398798 [A/G] NM_001101667,NM_003501 ACOX3,ACOX3 EXON Missense_R308W,Missense_R308W exm2080654 4 8398837 [A/G] NM_001101667,NM_003501 ACOX3,ACOX3 EXON Nonsense_Q295X,Nonsense_Q295X exm388662 4 8401372 [T/C] NM_001101667,NM_003501 ACOX3,ACOX3 EXON Missense_M262V,Missense_M262V exm388663 4 8401375 [T/C] NM_001101667,NM_003501 ACOX3,ACOX3 EXON Missense_A261T,Missense_A261T exm388670 4 8411937 [A/G] NM_001101667,NM_003501 ACOX3,ACOX3 Silent,Silent exm388681 4 8416050 [T/C] NM_001101667,NM_003501 ACOX3,ACOX3 EXON Missense_R171H,Missense_R171H exm388686 4 8416102 [A/C] NM_001101667,NM_003501 ACOX3,ACOX3 EXON Nonsense_G154X,Nonsense_G154X exm388687 4 8416586 [T/G] NM_001101667,NM_003501 ACOX3,ACOX3 EXON Missense_M150L,Missense_M150L exm388689 4 8416589 [T/C] NM_001101667,NM_003501 ACOX3,ACOX3 EXON Missense_R149G,Missense_R149G exm388693 4 8417558 [T/C] NM_001101667,NM_003501 ACOX3,ACOX3 EXON Missense_A105T,Missense_A105T exm388695 4 8417560 [A/G] NM_001101667,NM_003501 ACOX3,ACOX3 EXON Missense_P104L,Missense_P104L exm388699 4 8417620 [T/C] NM_001101667,NM_003501 ACOX3,ACOX3 EXON Missense_R84Q,Missense_R84Q exm388700 4 8417629 [T/C] NM_001101667,NM_003501 ACOX3,ACOX3 EXON Missense_R81Q,Missense_R81Q exm388705 4 8417683 [T/C] NM_001101667,NM_003501 ACOX3,ACOX3 EXON Missense_R63H,Missense_R63H exm2256754 4 8417712 [T/C] NM_001101667,NM_003501 ACOX3,ACOX3 EXON Synonymous_S53S,Synonymous_S53S exm388712 4 8418118 [A/G] NM_001101667,NM_003501 ACOX3,ACOX3 EXON Missense_M44T,Missense_M44T exm388717 4 8418148 [T/G] NM_001101667,NM_003501 ACOX3,ACOX3 EXON Missense_E34A,Missense_E34A exm388728 4 8443084 [T/C] NM_152544 TRMT44 EXON Missense_L179F exm388729 4 8443139 [C/G] NM_152544 TRMT44 EXON Missense_T197R exm388731 4 8451460 [A/C] NM_152544 TRMT44 EXON Missense_P267T exm388734 4 8451559 [A/T] NM_152544 TRMT44 EXON Missense_M300L exm388736 4 8454639 [A/G] NM_152544 TRMT44 EXON Missense_R352G exm388742 4 8465721 [A/G] NM_152544 TRMT44 EXON Missense_I405V exm388744 4 8465736 [A/G] NM_152544 TRMT44 EXON Missense_K410E exm388745 4 8465740 [A/C] NM_152544 TRMT44 EXON Missense_T411N exm388751 4 8467157 [A/G] NM_152544 TRMT44 EXON Missense_I455V exm388768 4 8469757 [G/C] NM_152544 TRMT44 EXON Missense_W537C exm388770 4 8469776 [T/C] NM_152544 TRMT44 EXON Missense_R544C exm2080892 4 8469794 [A/C] NM_152544 TRMT44 EXON Missense_S550R exm388773 4 8469816 [A/G] NM_152544 TRMT44 EXON Missense_Q557R exm388779 4 8469917 [T/C] NM_152544 TRMT44 EXON Missense_P591S exm388780 4 8469935 [T/C] NM_152544 TRMT44 EXON Missense_R597C exm388786 4 8470068 [C/G] NM_152544 TRMT44 EXON Missense_G641A exm388787 4 8472816 [G/C] NM_152544 TRMT44 EXON Missense_L645V exm388790 4 8472850 [T/C] NM_152544 TRMT44 EXON Missense_T656M exm388794 4 8472867 [G/C] NM_152544 TRMT44 EXON Missense_L662V exm388795 4 8472874 [A/G] NM_152544 TRMT44 EXON Missense_R664Q exm388796 4 8472882 [C/G] NM_152544 TRMT44 EXON Missense_G667R exm388806 4 8477562 [T/C] NM_152544 TRMT44 EXON Missense_P703L exm388809 4 8477583 [T/C] NM_152544 TRMT44 EXON Missense_L710P exm388815 4 8477642 [A/G] NM_152544 TRMT44 EXON Missense_A730T exm2241370 4 8477664 [T/C] NM_152544 TRMT44 EXON Missense_P737L exm-rs1949733 4 8503359 [A/G] exm388825 4 8582761 [A/G] NR_045511,NM_080819 GPR78,GPR78 EXON Silent,Missense_V18M exm388838 4 8582876 [T/C] NR_045511,NM_080819 GPR78,GPR78 EXON Silent,Missense_A56V exm388843 4 8582986 [T/G] NR_045511,NM_080819 GPR78,GPR78 EXON Silent,Missense_A93S exm388851 4 8583179 [T/C] NR_045511,NM_080819 GPR78,GPR78 EXON Silent,Missense_S157L exm388853 4 8583209 [C/G] NR_045511,NM_080819 GPR78,GPR78 EXON Silent,Missense_P167R exm388877 4 8584295 [T/C] NR_045511,NM_080819 GPR78,GPR78 EXON Silent,Missense_R236C exm388883 4 8584320 [T/G] NR_045511,NM_080819 GPR78,GPR78 EXON Silent,Missense_G244V exm388885 4 8584332 [T/C] NR_045511,NM_080819 GPR78,GPR78 EXON Silent,Missense_A248V exm2265666 4 8586596 [A/G] NR_045511,NM_080819 GPR78,GPR78 Silent,Silent exm2275730 4 8588786 [T/C] NR_045511,NM_080819 GPR78,GPR78 EXON Silent,Missense_A263V exm388907 4 8588950 [T/C] NR_045511,NM_080819 GPR78,GPR78 EXON Silent,Missense_R318C exm388909 4 8588986 [A/G] NR_045511,NM_080819 GPR78,GPR78 EXON Silent,Missense_A330T exm388956 4 8602930 [T/C] NM_003652,NM_001014448,NM_001014447 CPZ,CPZ,CPZ EXON Missense_R57W,Silent,Missense_R68W exm388977 4 8603105 [A/G] NM_003652,NM_001014448,NM_001014447 CPZ,CPZ,CPZ EXON Missense_R115Q,Silent,Missense_R126Q exm388981 4 8603123 [T/C] NM_003652,NM_001014448,NM_001014447 CPZ,CPZ,CPZ EXON Missense_A121V,Silent,Missense_A132V exm2081157 4 8603180 [T/C] NM_003652,NM_001014448,NM_001014447 CPZ,CPZ,CPZ EXON Missense_T140M,Missense_T14M,Missense_T151M exm388988 4 8603207 [T/C] NM_003652,NM_001014448,NM_001014447 CPZ,CPZ,CPZ EXON Missense_P149L,Missense_P23L,Missense_P160L exm388993 4 8605742 [T/C] NM_003652,NM_001014448,NM_001014447 CPZ,CPZ,CPZ EXON Missense_P168L,Missense_P42L,Missense_P179L exm388997 4 8605756 [T/C] NM_003652,NM_001014448,NM_001014447 CPZ,CPZ,CPZ EXON Missense_R173C,Missense_R47C,Missense_R184C exm389000 4 8605790 [A/G] NM_003652,NM_001014448,NM_001014447 CPZ,CPZ,CPZ EXON Missense_R184H,Missense_R58H,Missense_R195H exm389001 4 8605801 [T/C] NM_003652,NM_001014448,NM_001014447 CPZ,CPZ,CPZ EXON Missense_R188W,Missense_R62W,Missense_R199W exm2081170 4 8605881 [C/G] NM_003652,NM_001014448,NM_001014447 CPZ,CPZ,CPZ EXON Missense_I214M,Missense_I88M,Missense_I225M exm389022 4 8607757 [A/G] NM_003652,NM_001014448,NM_001014447 CPZ,CPZ,CPZ EXON Missense_E240K,Missense_E114K,Missense_E251K exm389026 4 8607794 [A/G] NM_003652,NM_001014448,NM_001014447 CPZ,CPZ,CPZ EXON Missense_Q252R,Missense_Q126R,Missense_Q263R exm389029 4 8607829 [T/C] NM_003652,NM_001014448,NM_001014447 CPZ,CPZ,CPZ EXON Missense_R264C,Missense_R138C,Missense_R275C exm389030 4 8607838 [T/C] NM_003652,NM_001014448,NM_001014447 CPZ,CPZ,CPZ EXON Missense_R267C,Missense_R141C,Missense_R278C exm389031 4 8607848 [A/C] NM_003652,NM_001014448,NM_001014447 CPZ,CPZ,CPZ EXON Missense_N270T,Missense_N144T,Missense_N281T exm389032 4 8607856 [T/C] NM_003652,NM_001014448,NM_001014447 CPZ,CPZ,CPZ EXON Missense_R273C,Missense_R147C,Missense_R284C exm389040 4 8608506 [T/C] NM_003652,NM_001014448,NM_001014447 CPZ,CPZ,CPZ EXON Nonsense_Q306X,Nonsense_Q180X,Nonsense_Q317X exm2256764 4 8608538 [T/C] NM_003652,NM_001014448,NM_001014447 CPZ,CPZ,CPZ EXON Synonymous_D316D,Synonymous_D190D,Synonymous_D327D exm2081178 4 8608558 [A/G] NM_003652,NM_001014448,NM_001014447 CPZ,CPZ,CPZ EXON Missense_R323Q,Missense_R197Q,Missense_R334Q exm389049 4 8608572 [T/C] NM_003652,NM_001014448,NM_001014447 CPZ,CPZ,CPZ EXON Missense_R328C,Missense_R202C,Missense_R339C exm389051 4 8608582 [A/G] NM_003652,NM_001014448,NM_001014447 CPZ,CPZ,CPZ EXON Missense_R331H,Missense_R205H,Missense_R342H exm389069 4 8609123 [A/G] NM_003652,NM_001014448,NM_001014447 CPZ,CPZ,CPZ EXON Missense_K389E,Missense_K263E,Missense_K400E exm389070 4 8609124 [A/T] NM_003652,NM_001014448,NM_001014447 CPZ,CPZ,CPZ EXON Missense_K389M,Missense_K263M,Missense_K400M exm389071 4 8609150 [A/G] NM_003652,NM_001014448,NM_001014447 CPZ,CPZ,CPZ EXON Missense_K398E,Missense_K272E,Missense_K409E exm2081191 4 8609153 [A/G] NM_003652,NM_001014448,NM_001014447 CPZ,CPZ,CPZ Silent,Silent,Silent exm389073 4 8613762 [T/G] NM_003652,NM_001014448,NM_001014447 CPZ,CPZ,CPZ EXON Missense_K401N,Missense_K275N,Missense_K412N exm389103 4 8616087 [A/C] NM_003652,NM_001014448,NM_001014447 CPZ,CPZ,CPZ EXON Synonymous_G444G,Synonymous_G318G,Synonymous_G455G exm389107 4 8616131 [T/C] NM_003652,NM_001014448,NM_001014447 CPZ,CPZ,CPZ EXON Missense_T459M,Missense_T333M,Missense_T470M exm389110 4 8616160 [G/C] NM_003652,NM_001014448,NM_001014447 CPZ,CPZ,CPZ EXON Missense_P469A,Missense_P343A,Missense_P480A exm389113 4 8616179 [T/C] NM_003652,NM_001014448,NM_001014447 CPZ,CPZ,CPZ EXON Missense_I475T,Missense_I349T,Missense_I486T exm389115 4 8616217 [G/C] NM_003652,NM_001014448,NM_001014447 CPZ,CPZ,CPZ EXON Missense_V488L,Missense_V362L,Missense_V499L exm389116 4 8616224 [T/C] NM_003652,NM_001014448,NM_001014447 CPZ,CPZ,CPZ EXON Missense_T490M,Missense_T364M,Missense_T501M exm389122 4 8620163 [A/G] NM_003652,NM_001014448,NM_001014447 CPZ,CPZ,CPZ EXON Missense_R493Q,Missense_R367Q,Missense_R504Q exm389124 4 8620172 [A/G] NM_003652,NM_001014448,NM_001014447 CPZ,CPZ,CPZ EXON Missense_K496R,Missense_K370R,Missense_K507R exm389127 4 8620195 [A/G] NM_003652,NM_001014448,NM_001014447 CPZ,CPZ,CPZ EXON Missense_G504S,Missense_G378S,Missense_G515S exm389139 4 8621055 [A/G] NM_003652,NM_001014448,NM_001014447 CPZ,CPZ,CPZ EXON Missense_G546D,Missense_G420D,Missense_G557D exm389141 4 8621060 [A/G] NM_003652,NM_001014448,NM_001014447 CPZ,CPZ,CPZ EXON Missense_A548T,Missense_A422T,Missense_A559T exm389144 4 8621090 [A/G] NM_003652,NM_001014448,NM_001014447 CPZ,CPZ,CPZ EXON Missense_A558T,Missense_A432T,Missense_A569T exm389145 4 8621094 [A/G] NM_003652,NM_001014448,NM_001014447 CPZ,CPZ,CPZ EXON Missense_R559Q,Missense_R433Q,Missense_R570Q exm389147 4 8621112 [A/G] NM_003652,NM_001014448,NM_001014447 CPZ,CPZ,CPZ EXON Missense_R565H,Missense_R439H,Missense_R576H exm389148 4 8621123 [A/G] NM_003652,NM_001014448,NM_001014447 CPZ,CPZ,CPZ EXON Missense_I569V,Missense_I443V,Missense_I580V exm389156 4 8621172 [A/G] NM_003652,NM_001014448,NM_001014447 CPZ,CPZ,CPZ EXON Missense_R585Q,Missense_R459Q,Missense_R596Q exm2275732 4 8621189 [A/G] NM_003652,NM_001014448,NM_001014447 CPZ,CPZ,CPZ EXON Missense_D591N,Missense_D465N,Missense_D602N exm389159 4 8621193 [T/C] NM_003652,NM_001014448,NM_001014447 CPZ,CPZ,CPZ EXON Missense_P592L,Missense_P466L,Missense_P603L exm2277283 4 8621247 [A/C] NM_003652,NM_001014448,NM_001014447 CPZ,CPZ,CPZ EXON Missense_A610E,Missense_A484E,Missense_A621E exm389169 4 8621250 [A/G] NM_003652,NM_001014448,NM_001014447 CPZ,CPZ,CPZ EXON Missense_R611H,Missense_R485H,Missense_R622H exm2256766 4 8621263 [T/G] NM_003652,NM_001014448,NM_001014447 CPZ,CPZ,CPZ EXON Synonymous_S615S,Synonymous_S489S,Synonymous_S626S exm389178 4 8621324 [T/C] NM_003652,NM_001014448,NM_001014447 CPZ,CPZ,CPZ EXON Missense_R636C,Missense_R510C,Missense_R647C exm2269900 4 8641696 [T/C] exm389192 4 8872977 [T/C] NM_018942 HMX1 EXON Missense_G122S exm389261 4 9446299 [A/G] NM_001040448 DEFB131 EXON Missense_M14V exm389320 4 9783877 [T/C] NM_000798 DRD5 EXON Missense_M75T exm389324 4 9783915 [T/C] NM_000798 DRD5 EXON Missense_L88F exm389351 4 9784246 [A/C] NM_000798 DRD5 EXON Missense_A198D exm389369 4 9784509 [A/G] NM_000798 DRD5 EXON Missense_A286T exm389385 4 9784658 [A/C] NM_000798 DRD5 EXON Nonsense_C335X exm389393 4 9784750 [A/G] NM_000798 DRD5 EXON Missense_Q366R exm2261786 4 9811133 [A/G] exm389416 4 9836555 [T/C] NM_001001290,NM_020041 SLC2A9,SLC2A9 EXON Missense_V428I,Missense_V457I exm2265667 4 9903121 [A/G] NM_001001290,NM_020041 SLC2A9,SLC2A9 Silent,Silent exm389442 4 9909923 [A/G] NM_001001290,NM_020041 SLC2A9,SLC2A9 EXON Missense_P321L,Missense_P350L exm389443 4 9909926 [A/G] NM_001001290,NM_020041 SLC2A9,SLC2A9 EXON Missense_P320L,Missense_P349L exm389448 4 9922112 [T/C] NM_001001290,NM_020041 SLC2A9,SLC2A9 EXON Missense_R271H,Missense_R300H exm389449 4 9922113 [A/G] NM_001001290,NM_020041 SLC2A9,SLC2A9 EXON Missense_R271C,Missense_R300C exm389451 4 9922128 [T/C] NM_001001290,NM_020041 SLC2A9,SLC2A9 EXON Missense_V266M,Missense_V295M exm389453 4 9922130 [T/C] NM_001001290,NM_020041 SLC2A9,SLC2A9 EXON Missense_R265H,Missense_R294H exm389455 4 9922167 [T/C] NM_001001290,NM_020041 SLC2A9,SLC2A9 EXON Missense_V253I,Missense_V282I exm389458 4 9922187 [A/G] NM_001001290,NM_020041 SLC2A9,SLC2A9 EXON Missense_T246M,Missense_T275M exm-rs734553 4 9923004 [T/G] NM_001001290,NM_020041 SLC2A9,SLC2A9 Silent,Silent exm-rs13129697 4 9926967 [T/G] NM_001001290,NM_020041 SLC2A9,SLC2A9 Silent,Silent exm-rs6855911 4 9935910 [A/G] NM_001001290,NM_020041 SLC2A9,SLC2A9 Silent,Silent exm389460 4 9943542 [A/G] NM_001001290,NM_020041 SLC2A9,SLC2A9 EXON Missense_V241A,Missense_V270A exm389467 4 9943624 [T/C] NM_001001290,NM_020041 SLC2A9,SLC2A9 EXON Missense_V214I,Missense_V243I exm-rs7442295 4 9966380 [A/G] NM_001001290,NM_020041 SLC2A9,SLC2A9 Silent,Silent exm-rs3775948 4 9995182 [G/C] NM_001001290,NM_020041 SLC2A9,SLC2A9 Silent,Silent exm2082918 4 9998441 [A/G] NM_001001290,NM_020041 SLC2A9,SLC2A9 EXON Missense_T96M,Missense_T125M exm389512 4 10022947 [T/C] NM_001001290,NM_020041 SLC2A9,SLC2A9 EXON Silent,Missense_C36Y exm389513 4 10022981 [T/C] NM_001001290,NM_020041 SLC2A9,SLC2A9 EXON Silent,Missense_G25R exm389520 4 10027542 [T/C] NM_001001290 SLC2A9 EXON Missense_A17T exm389521 4 10027568 [T/C] NM_001001290 SLC2A9 EXON Missense_R8Q exm389532 4 10079377 [T/C] NM_017491,NM_005112 WDR1,WDR1 EXON Synonymous_S523S,Synonymous_S383S exm2240238 4 10079513 [A/G] NM_017491,NM_005112 WDR1,WDR1 EXON Missense_T478M,Missense_T338M exm389540 4 10080534 [A/G] NM_017491,NM_005112 WDR1,WDR1 EXON Missense_T459M,Missense_T319M exm389541 4 10080544 [T/C] NM_017491,NM_005112 WDR1,WDR1 EXON Missense_G456S,Missense_G316S exm2062608 4 10086063 [A/G] NM_017491,NM_005112 WDR1,WDR1 Silent,Silent exm389576 4 10089539 [T/C] NM_017491,NM_005112 WDR1,WDR1 EXON Missense_H248R,Missense_H108R exm389582 4 10089994 [A/G] NM_017491,NM_005112 WDR1,WDR1 EXON Missense_Y214H,Missense_Y74H exm389587 4 10099340 [T/C] NM_017491,NM_005112 WDR1,WDR1 EXON Missense_I185V,Silent exm389590 4 10099381 [A/G] NM_017491,NM_005112 WDR1,WDR1 EXON Missense_A171V,Silent exm-rs717615 4 10104670 [A/G] NM_017491,NM_005112 WDR1,WDR1 Silent,Silent exm389603 4 10105567 [A/G] NM_017491,NM_005112 WDR1,WDR1 EXON Missense_V61A,Silent exm2240242 4 10117737 [A/G] NM_017491,NM_005112 WDR1,WDR1 EXON Synonymous_D46D,Synonymous_D46D exm2256245 4 10140259 [T/C] exm-rs9291683 4 10324160 [A/G] exm389635 4 10445207 [T/C] NM_053042 ZNF518B EXON Missense_I916V exm389636 4 10445246 [T/G] NM_053042 ZNF518B EXON Missense_I903L exm389638 4 10445312 [A/C] NM_053042 ZNF518B EXON Missense_S881A exm389649 4 10445441 [T/C] NM_053042 ZNF518B EXON Missense_N838D exm389655 4 10445497 [A/G] NM_053042 ZNF518B EXON Missense_A819V exm389660 4 10445623 [A/T] NM_053042 ZNF518B EXON Missense_V777E exm389662 4 10445672 [A/C] NM_053042 ZNF518B EXON Missense_A761S exm389663 4 10445716 [A/G] NM_053042 ZNF518B EXON Missense_P746L exm389664 4 10445770 [A/G] NM_053042 ZNF518B EXON Missense_P728L exm389665 4 10445794 [T/G] NM_053042 ZNF518B EXON Missense_S720Y exm389670 4 10445884 [T/C] NM_053042 ZNF518B EXON Missense_R690H exm389688 4 10446208 [A/G] NM_053042 ZNF518B EXON Missense_A582V exm389690 4 10446274 [T/C] NM_053042 ZNF518B EXON Missense_N560S exm389692 4 10446281 [T/G] NM_053042 ZNF518B EXON Missense_K558Q exm389696 4 10446385 [T/C] NM_053042 ZNF518B EXON Missense_S523N exm389698 4 10446410 [T/C] NM_053042 ZNF518B EXON Missense_E515K exm389699 4 10446444 [G/C] NM_053042 ZNF518B EXON Missense_N503K exm389700 4 10446466 [T/C] NM_053042 ZNF518B EXON Missense_R496H exm2063103 4 10446610 [T/C] NM_053042 ZNF518B EXON Missense_H448R exm389709 4 10446707 [T/C] NM_053042 ZNF518B EXON Missense_V416I exm389710 4 10446725 [T/C] NM_053042 ZNF518B EXON Missense_G410R exm389716 4 10446892 [T/C] NM_053042 ZNF518B EXON Missense_N354S exm389723 4 10447130 [T/C] NM_053042 ZNF518B EXON Missense_I275V exm389726 4 10447168 [C/G] NM_053042 ZNF518B EXON Missense_G262A exm389729 4 10447194 [T/G] NM_053042 ZNF518B EXON Missense_Q253H exm389738 4 10447327 [A/G] NM_053042 ZNF518B EXON Missense_T209M exm389747 4 10447588 [T/C] NM_053042 ZNF518B EXON Missense_N122S exm2063114 4 10447628 [A/G] NM_053042 ZNF518B EXON Missense_H109Y exm389749 4 10447640 [A/G] NM_053042 ZNF518B EXON Missense_S105P exm389750 4 10447679 [T/C] NM_053042 ZNF518B EXON Missense_G92S exm389761 4 10447907 [T/C] NM_053042 ZNF518B EXON Missense_G16R exm389762 4 10447910 [T/C] NM_053042 ZNF518B EXON Missense_G15S exm2264082 4 10484987 [A/C] exm2063135 4 10502909 [A/C] NM_052964 CLNK EXON Missense_A371S exm389775 4 10502935 [T/C] NM_052964 CLNK EXON Missense_R362H exm389776 4 10502936 [A/G] NM_052964 CLNK EXON Missense_R362C exm389778 4 10502971 [A/G] NM_052964 CLNK EXON Missense_V350A exm2275733 4 10509611 [A/C] NM_052964 CLNK EXON Missense_V319G exm389789 4 10527468 [A/C] NM_052964 CLNK EXON Missense_S243I exm389790 4 10527472 [T/C] NM_052964 CLNK EXON Missense_I242V exm389802 4 10543646 [A/C] NM_052964 CLNK EXON Missense_R164L exm389803 4 10543893 [T/C] NM_052964 CLNK EXON Missense_V153I exm2063166 4 10566400 [A/G] NM_052964 CLNK EXON Synonymous_D98D exm389816 4 10567633 [T/C] NM_052964 CLNK EXON Missense_D98N exm389818 4 10567687 [A/G] NM_052964 CLNK EXON Missense_W80R exm2256260 4 10567709 [A/G] NM_052964 CLNK EXON Synonymous_P72P exm389821 4 10567732 [T/C] NM_052964 CLNK EXON Missense_S65G exm389822 4 10567765 [A/C] NM_052964 CLNK EXON Missense_F54V exm389823 4 10573383 [T/G] NM_052964 CLNK EXON Missense_N44K exm389830 4 10586571 [A/G] NM_052964 CLNK EXON Missense_P31L exm389833 4 10599639 [T/C] NM_052964 CLNK EXON Missense_D16N exm2265668 4 11053537 [A/G] exm-rs1876265 4 11162918 [T/G] exm2261584 4 11216238 [T/C] exm389847 4 11400746 [T/C] NM_005114 HS3ST1 EXON Missense_K295R exm2064147 4 11401039 [G/C] NM_005114 HS3ST1 EXON Missense_H197Q exm389870 4 11401239 [T/C] NM_005114 HS3ST1 EXON Missense_E131K exm389875 4 11401341 [T/C] NM_005114 HS3ST1 EXON Missense_S97G exm389876 4 11401353 [C/G] NM_005114 HS3ST1 EXON Missense_E93Q exm-rs10488988 4 11636163 [T/C] exm2269719 4 12000904 [T/C] exm2269902 4 12440385 [T/C] exm2265669 4 12664089 [A/G] exm2265670 4 12778849 [A/G] exm-rs763318 4 12963574 [A/G] exm389902 4 13371577 [T/C] NM_001017979,NM_001159601,NM_004249 RAB28,RAB28,RAB28 EXON Silent,Silent,Missense_A196T exm389911 4 13383174 [A/G] NM_001017979,NM_001159601,NM_004249 RAB28,RAB28,RAB28 EXON Missense_R146W,Missense_R146W,Missense_R146W exm2265671 4 13526386 [A/G] exm389957 4 13545804 [T/A] NM_001189 NKX3-2 EXON Missense_T79S exm2066035 4 13545835 [T/G] NM_001189 NKX3-2 EXON Missense_D68E exm389975 4 13571720 [T/C] NM_148894 BOD1L1 EXON Missense_R3024H exm389980 4 13578557 [A/C] NM_148894 BOD1L1 EXON Missense_K2981N exm389984 4 13579078 [A/G] NM_148894 BOD1L1 EXON Missense_R2945C exm389985 4 13579081 [T/C] NM_148894 BOD1L1 EXON Missense_V2944M exm390003 4 13583934 [T/C] NM_148894 BOD1L1 EXON Missense_D2840G exm2256359 4 13584301 [A/G] NM_148894 BOD1L1 EXON Synonymous_T2831T exm2066056 4 13588039 [A/G] NM_148894 BOD1L1 EXON Missense_T2805M exm390011 4 13590380 [A/G] NM_148894 BOD1L1 EXON Missense_I2749T exm390016 4 13592033 [T/C] NM_148894 BOD1L1 EXON Missense_H2729R exm2066065 4 13600588 [T/C] NM_148894 BOD1L1 EXON Missense_E2646K exm2066067 4 13600728 [T/C] NM_148894 BOD1L1 EXON Missense_C2599Y exm2274000 4 13600910 [A/G] NM_148894 BOD1L1 EXON Synonymous_D2538D exm390041 4 13600953 [T/C] NM_148894 BOD1L1 EXON Missense_R2524H exm390044 4 13600993 [T/G] NM_148894 BOD1L1 EXON Missense_T2511P exm390048 4 13601079 [G/C] NM_148894 BOD1L1 EXON Missense_G2482A exm390052 4 13601182 [G/C] NM_148894 BOD1L1 EXON Missense_G2448R exm390063 4 13601329 [T/C] NM_148894 BOD1L1 EXON Missense_V2399M exm390066 4 13601337 [A/G] NM_148894 BOD1L1 EXON Missense_P2396L exm390067 4 13601341 [T/C] NM_148894 BOD1L1 EXON Missense_E2395K exm390071 4 13601443 [T/C] NM_148894 BOD1L1 EXON Missense_G2361S exm390077 4 13601506 [T/C] NM_148894 BOD1L1 EXON Missense_I2340V exm2256361 4 13601654 [G/C] NM_148894 BOD1L1 EXON Synonymous_T2290T exm2066077 4 13601679 [A/G] NM_148894 BOD1L1 EXON Missense_T2282I exm390092 4 13601788 [T/C] NM_148894 BOD1L1 EXON Missense_V2246I exm390095 4 13601799 [T/C] NM_148894 BOD1L1 EXON Missense_R2242Q exm390101 4 13601959 [T/C] NM_148894 BOD1L1 EXON Missense_D2189N exm390103 4 13601977 [A/C] NM_148894 BOD1L1 EXON Missense_V2183F exm390109 4 13602204 [T/C] NM_148894 BOD1L1 EXON Missense_G2107D exm390110 4 13602229 [C/G] NM_148894 BOD1L1 EXON Missense_L2099V exm390111 4 13602231 [A/G] NM_148894 BOD1L1 EXON Missense_A2098V exm390113 4 13602265 [T/C] NM_148894 BOD1L1 EXON Missense_A2087T exm390123 4 13602511 [T/C] NM_148894 BOD1L1 EXON Missense_G2005R exm390125 4 13602550 [T/C] NM_148894 BOD1L1 EXON Missense_E1992K exm2066089 4 13602603 [T/C] NM_148894 BOD1L1 EXON Missense_G1974D exm390127 4 13602725 [C/G] NM_148894 BOD1L1 EXON Missense_S1933R exm2066092 4 13602838 [A/C] NM_148894 BOD1L1 EXON Missense_V1896F exm2066093 4 13602871 [T/C] NM_148894 BOD1L1 EXON Missense_T1885A exm390135 4 13602993 [A/G] NM_148894 BOD1L1 EXON Missense_V1844A exm2066094 4 13603003 [T/C] NM_148894 BOD1L1 EXON Missense_V1841I exm390136 4 13603038 [A/G] NM_148894 BOD1L1 EXON Missense_A1829V exm390142 4 13603200 [T/G] NM_148894 BOD1L1 EXON Missense_Q1775P exm390145 4 13603373 [G/C] NM_148894 BOD1L1 EXON Missense_M1717I exm390150 4 13603591 [T/C] NM_148894 BOD1L1 EXON Missense_V1645I exm390154 4 13603606 [T/C] NM_148894 BOD1L1 EXON Missense_A1640T exm390158 4 13603690 [T/C] NM_148894 BOD1L1 EXON Missense_E1612K exm390165 4 13603827 [T/C] NM_148894 BOD1L1 EXON Missense_G1566E exm390169 4 13603981 [T/C] NM_148894 BOD1L1 EXON Missense_T1515A exm390170 4 13603984 [T/C] NM_148894 BOD1L1 EXON Missense_K1514E exm390174 4 13604034 [T/C] NM_148894 BOD1L1 EXON Missense_Q1497R exm390182 4 13604163 [G/C] NM_148894 BOD1L1 EXON Missense_T1454S exm390183 4 13604182 [T/C] NM_148894 BOD1L1 EXON Missense_T1448A exm2066102 4 13604347 [T/C] NM_148894 BOD1L1 EXON Missense_V1393M exm390190 4 13604418 [C/G] NM_148894 BOD1L1 EXON Missense_A1369G exm390192 4 13604482 [T/C] NM_148894 BOD1L1 EXON Missense_E1348K exm390193 4 13604490 [T/C] NM_148894 BOD1L1 EXON Missense_E1345G exm390200 4 13604644 [T/C] NM_148894 BOD1L1 EXON Missense_E1294K exm390202 4 13604679 [A/G] NM_148894 BOD1L1 EXON Missense_P1282L exm390209 4 13604977 [G/C] NM_148894 BOD1L1 EXON Missense_P1183A exm390210 4 13604978 [G/C] NM_148894 BOD1L1 EXON Missense_K1182N exm390211 4 13605040 [T/C] NM_148894 BOD1L1 EXON Missense_V1162I exm390215 4 13605166 [T/C] NM_148894 BOD1L1 EXON Missense_M1120V exm390216 4 13605201 [G/C] NM_148894 BOD1L1 EXON Missense_S1108T exm390220 4 13605304 [A/G] NM_148894 BOD1L1 EXON Missense_R1074W exm390235 4 13605618 [C/G] NM_148894 BOD1L1 EXON Missense_G969A exm390239 4 13605733 [T/C] NM_148894 BOD1L1 EXON Missense_G931S exm390240 4 13605780 [T/A] NM_148894 BOD1L1 EXON Missense_K915I exm2066112 4 13605887 [T/G] NM_148894 BOD1L1 EXON Missense_D879E exm2240448 4 13606440 [G/C] NM_148894 BOD1L1 EXON Missense_S695T exm390275 4 13606576 [T/A] NM_148894 BOD1L1 EXON Missense_L650I exm390277 4 13606600 [T/C] NM_148894 BOD1L1 EXON Missense_D642N exm390283 4 13608741 [T/C] NM_148894 BOD1L1 EXON Synonymous_E605E exm390284 4 13610209 [A/G] NM_148894 BOD1L1 EXON Missense_R563W exm2274001 4 13610925 [T/C] NM_148894 BOD1L1 EXON Missense_G533S exm390297 4 13615174 [A/G] NM_148894 BOD1L1 EXON Missense_T429M exm390309 4 13616104 [T/C] NM_148894 BOD1L1 EXON Missense_H297R exm2066124 4 13616129 [T/C] NM_148894 BOD1L1 EXON Missense_E289K exm390324 4 13616981 [T/C] NM_148894 BOD1L1 EXON Missense_T172A exm390334 4 13629046 [T/C] NM_148894 BOD1L1 EXON Missense_M56V exm-rs10489087 4 13794416 [A/G] exm2256371 4 14017269 [A/G] exm2261625 4 14513781 [A/C] exm2269720 4 14745825 [T/C] exm2265820 4 14790478 [A/G] exm-rs6818066 4 14848030 [A/C] exm390341 4 15004499 [T/C] NM_001177381,NM_001177384,NM_182646,NM_001177382,NM_182485,NM_001177383 CPEB2,CPEB2,CPEB2,CPEB2,CPEB2,CPEB2 EXON Missense_P68S,Missense_P68S,Missense_P68S,Missense_P68S,Missense_P68S,Missense_P68S exm2067203 4 15009020 [A/C] NM_001177381,NM_001177384,NM_182646,NM_001177382,NM_182485,NM_001177383 CPEB2,CPEB2,CPEB2,CPEB2,CPEB2,CPEB2 EXON Missense_H585P,Missense_H585P,Missense_H585P,Missense_H585P,Missense_H585P,Missense_H585P exm390364 4 15009083 [G/C] NM_001177381,NM_001177384,NM_182646,NM_001177382,NM_182485,NM_001177383 CPEB2,CPEB2,CPEB2,CPEB2,CPEB2,CPEB2 EXON Missense_P606R,Missense_P606R,Missense_P606R,Missense_P606R,Missense_P606R,Missense_P606R exm390366 4 15009122 [A/G] NM_001177381,NM_001177384,NM_182646,NM_001177382,NM_182485,NM_001177383 CPEB2,CPEB2,CPEB2,CPEB2,CPEB2,CPEB2 EXON Missense_R619H,Missense_R619H,Missense_R619H,Missense_R619H,Missense_R619H,Missense_R619H exm390375 4 15018863 [G/C] NM_001177381,NM_001177384,NM_182646,NM_001177382,NM_182485,NM_001177383 CPEB2,CPEB2,CPEB2,CPEB2,CPEB2,CPEB2 EXON Missense_L669V,Missense_L669V,Missense_L666V,Missense_L696V,Missense_L696V,Missense_L666V exm390383 4 15063727 [A/G] NM_001177381,NM_001177384,NM_182646,NM_001177382,NM_182485,NM_001177383 CPEB2,CPEB2,CPEB2,CPEB2,CPEB2,CPEB2 EXON Missense_R880Q,Missense_R872Q,Missense_R869Q,Missense_R907Q,Missense_R899Q,Missense_R877Q exm2265673 4 15127630 [A/G] exm2240545 4 15341829 [A/G] NM_001135170 C1QTNF7 EXON Missense_Q4R exm-rs6449134 4 15380517 [T/G] NM_001135170,NM_001135171 C1QTNF7,C1QTNF7 Silent,Silent exm-rs16891867 4 15397364 [A/G] NM_001135170,NM_001135171 C1QTNF7,C1QTNF7 Silent,Silent exm-rs1861046 4 15397906 [A/G] NM_001135170,NM_001135171 C1QTNF7,C1QTNF7 Silent,Silent exm390410 4 15443827 [A/G] NM_001135170,NM_001135171,NM_031911 C1QTNF7,C1QTNF7,C1QTNF7 EXON Missense_G99S,Missense_G92S,Missense_G92S exm390416 4 15443939 [T/A] NM_001135170,NM_001135171,NM_031911 C1QTNF7,C1QTNF7,C1QTNF7 EXON Missense_E136V,Missense_E129V,Missense_E129V exm2067691 4 15444077 [A/G] NM_001135170,NM_001135171,NM_031911 C1QTNF7,C1QTNF7,C1QTNF7 EXON Missense_G182E,Missense_G175E,Missense_G175E exm390431 4 15444181 [A/C] NM_001135170,NM_001135171,NM_031911 C1QTNF7,C1QTNF7,C1QTNF7 EXON Missense_L217M,Missense_L210M,Missense_L210M exm390433 4 15444203 [A/G] NM_001135170,NM_001135171,NM_031911 C1QTNF7,C1QTNF7,C1QTNF7 EXON Missense_R224Q,Missense_R217Q,Missense_R217Q exm390436 4 15444220 [A/G] NM_001135170,NM_001135171,NM_031911 C1QTNF7,C1QTNF7,C1QTNF7 EXON Missense_A230T,Missense_A223T,Missense_A223T exm390442 4 15444361 [A/G] NM_001135170,NM_001135171,NM_031911 C1QTNF7,C1QTNF7,C1QTNF7 EXON Missense_G277R,Missense_G270R,Missense_G270R exm390444 4 15444400 [A/G] NM_001135170,NM_001135171,NM_031911 C1QTNF7,C1QTNF7,C1QTNF7 EXON Missense_I290V,Missense_I283V,Missense_I283V exm390459 4 15482360 [T/C] NM_020785,NM_001164720,NM_001080522 CC2D2A,CC2D2A,CC2D2A EXON Nonsense_R88X,Synonymous_S52S,Synonymous_S52S exm2256417 4 15499251 [T/C] NM_001080522 CC2D2A Silent exm390468 4 15504459 [T/G] NM_001080522 CC2D2A EXON Missense_S117R exm390475 4 15511824 [T/G] NM_001080522 CC2D2A EXON Missense_K167N exm390479 4 15512919 [T/C] NM_001080522 CC2D2A EXON Missense_F197S exm390481 4 15512942 [A/G] NM_001080522 CC2D2A EXON Missense_G205R exm390487 4 15516333 [A/G] NM_001080522 CC2D2A EXON Missense_E241K exm2256420 4 15516398 [T/C] NM_001080522 CC2D2A EXON Synonymous_D262D exm390497 4 15517532 [T/C] NM_001080522 CC2D2A EXON Missense_F308L exm390500 4 15517628 [A/G] NM_001080522 CC2D2A Silent exm390504 4 15518357 [A/C] NM_001080522 CC2D2A EXON Missense_E376A exm390505 4 15529082 [A/G] NM_001080522 CC2D2A EXON Missense_V388I exm390519 4 15534868 [A/G] NM_001080522 CC2D2A EXON Missense_K507E exm390522 4 15538626 [T/C] NM_001080522 CC2D2A EXON Missense_T564M exm390530 4 15539594 [A/G] NM_001080522 CC2D2A EXON Missense_E613K exm2067952 4 15539735 [A/G] NM_001080522 CC2D2A EXON Missense_V660I exm390537 4 15542495 [A/G] NM_001080522 CC2D2A EXON Missense_R680H exm2240580 4 15542573 [A/G] NM_001080522 CC2D2A EXON Missense_R706Q exm390541 4 15542617 [T/C] NM_001080522 CC2D2A EXON Missense_P721S exm390546 4 15552591 [A/G] NM_001080522 CC2D2A EXON Missense_G776R exm390553 4 15554918 [A/G] NM_001080522 CC2D2A EXON Missense_G826R exm390557 4 15556805 [A/G] NM_001080522 CC2D2A EXON Missense_N866S exm390560 4 15559075 [A/G] NM_001080522 CC2D2A EXON Missense_R925Q exm390562 4 15559105 [A/G] NM_001080522 CC2D2A EXON Missense_R935Q exm2068070 4 15560840 [T/C] NM_001080522 CC2D2A EXON Missense_I961T exm390566 4 15560843 [A/G] NM_001080522 CC2D2A EXON Missense_D962G exm390567 4 15562176 [A/G] NM_001080522 CC2D2A EXON Missense_R982H exm390579 4 15565120 [A/G] NM_001080522 CC2D2A EXON Missense_I1053V exm390584 4 15569097 [G/C] NM_001080522 CC2D2A EXON Missense_L1094V exm390596 4 15572034 [A/G] NM_001080522 CC2D2A EXON Missense_R1170K exm390600 4 15572102 [A/G] NM_001080522 CC2D2A EXON Missense_I1193V exm390603 4 15581688 [T/C] NM_001080522 CC2D2A EXON Missense_V1290A exm390608 4 15591190 [C/G] NM_001080522 CC2D2A EXON Missense_T1401S exm2274002 4 15591226 [A/G] NM_001080522 CC2D2A EXON Missense_C1413Y exm390614 4 15599051 [T/C] NM_001080522 CC2D2A EXON Missense_R1487C exm390617 4 15601208 [A/G] NM_001080522 CC2D2A EXON Missense_R1518Q exm390623 4 15602914 [A/G] NM_001080522 CC2D2A EXON Missense_A1577T exm390634 4 15603037 [T/C] NM_001080522 CC2D2A EXON Missense_R1618C exm390646 4 15626941 [T/A] NM_012161,NM_001193534,NR_036464,NM_001193535 FBXL5,FBXL5,FBXL5,FBXL5 EXON Missense_E595V,Missense_E594V,Silent,Missense_E578V exm390654 4 15627127 [A/C] NM_012161,NM_001193534,NR_036464,NM_001193535 FBXL5,FBXL5,FBXL5,FBXL5 EXON Missense_C533F,Missense_C532F,Silent,Missense_C516F exm390663 4 15627436 [A/G] NM_012161,NM_001193534,NR_036464,NM_001193535 FBXL5,FBXL5,FBXL5,FBXL5 EXON Missense_A430V,Missense_A429V,Silent,Missense_A413V exm390669 4 15627568 [T/C] NM_012161,NM_001193534,NR_036464,NM_001193535 FBXL5,FBXL5,FBXL5,FBXL5 EXON Missense_R386Q,Missense_R385Q,Silent,Missense_R369Q exm2274003 4 15628518 [T/C] NM_012161,NM_001193534,NR_036464,NM_001193535 FBXL5,FBXL5,FBXL5,FBXL5 EXON Missense_I368V,Missense_I367V,Silent,Missense_I351V exm390692 4 15638225 [A/G] NM_012161,NM_001193534,NR_036464,NM_001193535 FBXL5,FBXL5,FBXL5,FBXL5 EXON Missense_L220F,Missense_L219F,Silent,Missense_L203F exm390693 4 15638237 [T/C] NM_012161,NM_001193534,NR_036464,NM_001193535 FBXL5,FBXL5,FBXL5,FBXL5 EXON Missense_I216V,Missense_I215V,Silent,Missense_I199V exm390729 4 15656897 [A/G] NM_012161,NM_001193534,NR_036464,NM_001193535 FBXL5,FBXL5,FBXL5,FBXL5 EXON Missense_P5L,Missense_P5L,Silent,Missense_P5L exm390732 4 15688604 [G/C] NM_001145191 FAM200B EXON Missense_D2H exm390739 4 15689069 [T/G] NM_001145191 FAM200B EXON Missense_V157L exm390742 4 15689208 [A/G] NM_001145191 FAM200B EXON Missense_R203Q exm390747 4 15689435 [T/C] NM_001145191 FAM200B EXON Missense_R279C exm390749 4 15689580 [T/A] NM_001145191 FAM200B EXON Missense_F327Y exm390754 4 15689759 [T/C] NM_001145191 FAM200B EXON Missense_R387C exm390758 4 15689928 [A/G] NM_001145191 FAM200B EXON Missense_S443N exm390773 4 15690460 [T/G] NM_001145191 FAM200B EXON Missense_Q620H exm390789 4 15707179 [T/C] NM_004334 BST1 EXON Missense_A77V exm390792 4 15707208 [T/C] NM_004334 BST1 EXON Missense_P87S exm390795 4 15707250 [A/G] NM_004334 BST1 EXON Missense_I101V exm390798 4 15709176 [A/G] NM_004334 BST1 EXON Missense_A120T exm390800 4 15709188 [T/C] NM_004334 BST1 EXON Missense_R124C exm390801 4 15709192 [A/G] NM_004334 BST1 EXON Missense_R125H exm390805 4 15709252 [A/G] NM_004334 BST1 EXON Missense_R145Q exm390811 4 15713513 [A/G] NM_004334 BST1 Silent exm390814 4 15716923 [T/G] NM_004334 BST1 EXON Missense_S184A exm2240606 4 15717412 [A/G] NM_004334 BST1 EXON Missense_G232R exm390825 4 15720540 [A/G] NM_004334 BST1 EXON Missense_G239R exm390830 4 15724520 [A/G] NM_004334 BST1 EXON Missense_V272M exm-rs4698412 4 15737348 [A/G] exm-rs4538475 4 15737937 [A/G] exm390838 4 15780058 [C/G] NM_001775 CD38 EXON Missense_S7R exm390839 4 15780060 [T/C] NM_001775 CD38 EXON Missense_P8L exm390842 4 15780090 [T/G] NM_001775 CD38 EXON Missense_L18R exm390844 4 15780218 [T/G] NM_001775 CD38 EXON Nonsense_E61X exm390845 4 15780219 [T/A] NM_001775 CD38 EXON Missense_E61V exm390846 4 15780222 [T/C] NM_001775 CD38 EXON Missense_T62I exm390847 4 15780233 [T/C] NM_001775 CD38 EXON Nonsense_R66X exm390857 4 15818240 [A/G] NM_001775 CD38 EXON Missense_T114A exm390862 4 15826558 [T/C] NM_001775 CD38 EXON Missense_R140W exm390864 4 15826583 [T/C] NM_001775 CD38 EXON Missense_T148M exm390870 4 15826640 [T/G] NM_001775 CD38 Silent exm390873 4 15835863 [T/G] NM_001775 CD38 EXON Missense_D175Y exm390874 4 15835876 [A/G] NM_001775 CD38 EXON Missense_D179G exm390880 4 15835921 [A/G] NM_001775 CD38 EXON Missense_R194H exm390888 4 15842075 [T/A] NM_001775 CD38 EXON Missense_R251S exm390899 4 15937562 [T/A] NM_005130 FGFBP1 EXON Missense_T232S exm390903 4 15937670 [T/C] NM_005130 FGFBP1 EXON Missense_E196K exm390907 4 15937711 [T/G] NM_005130 FGFBP1 EXON Missense_S182Y exm390912 4 15937789 [A/G] NM_005130 FGFBP1 EXON Missense_F156S exm390913 4 15937813 [A/T] NM_005130 FGFBP1 EXON Missense_L148H exm390915 4 15937856 [C/G] NM_005130 FGFBP1 EXON Missense_V134L exm390917 4 15937916 [T/C] NM_005130 FGFBP1 EXON Missense_K114E exm390920 4 15937990 [T/A] NM_005130 FGFBP1 EXON Missense_D89V exm390924 4 15938039 [T/C] NM_005130 FGFBP1 EXON Missense_T73A exm390926 4 15938068 [T/G] NM_005130 FGFBP1 EXON Missense_K63T exm390931 4 15938107 [T/C] NM_005130 FGFBP1 EXON Missense_Q50R exm390942 4 15964090 [T/G] NM_031950 FGFBP2 EXON Missense_F221L exm390945 4 15964134 [A/C] NM_031950 FGFBP2 EXON Missense_W207G exm390947 4 15964176 [T/C] NM_031950 FGFBP2 EXON Missense_G193R exm390955 4 15964245 [T/C] NM_031950 FGFBP2 EXON Missense_E170K exm390958 4 15964349 [A/C] NM_031950 FGFBP2 EXON Missense_G135V exm390963 4 15964424 [A/G] NM_031950 FGFBP2 EXON Missense_P110L exm390966 4 15964451 [T/C] NM_031950 FGFBP2 EXON Missense_R101H exm390972 4 15964574 [T/C] NM_031950 FGFBP2 EXON Missense_R60H exm390973 4 15964590 [T/C] NM_031950 FGFBP2 EXON Missense_G55R exm390976 4 15964670 [T/C] NM_031950 FGFBP2 EXON Missense_S28N exm390999 4 15985975 [T/C] NM_001145850,NM_001145852,NM_006017,NM_001145849,NM_001145847,NM_001145851,NM_001145848 PROM1,PROM1,PROM1,PROM1,PROM1,PROM1,PROM1 EXON Missense_S762G,Missense_S753G,Missense_S762G,Missense_S762G,Missense_S753G,Missense_S753G,Missense_S753G exm2256437 4 15992851 [A/G] NM_001145850,NM_001145852,NM_006017,NM_001145849,NM_001145847,NM_001145851,NM_001145848 PROM1,PROM1,PROM1,PROM1,PROM1,PROM1,PROM1 EXON Synonymous_N659N,Synonymous_N650N,Synonymous_N659N,Synonymous_N659N,Synonymous_N650N,Synonymous_N650N,Synonymous_N650N exm391015 4 15992900 [C/G] NM_001145850,NM_001145852,NM_006017,NM_001145849,NM_001145847,NM_001145851,NM_001145848 PROM1,PROM1,PROM1,PROM1,PROM1,PROM1,PROM1 EXON Missense_A643G,Missense_A634G,Missense_A643G,Missense_A643G,Missense_A634G,Missense_A634G,Missense_A634G exm391018 4 15992916 [T/C] NM_001145850,NM_001145852,NM_006017,NM_001145849,NM_001145847,NM_001145851,NM_001145848 PROM1,PROM1,PROM1,PROM1,PROM1,PROM1,PROM1 EXON Missense_T638A,Missense_T629A,Missense_T638A,Missense_T638A,Missense_T629A,Missense_T629A,Missense_T629A exm391023 4 15994002 [T/G] NM_001145850,NM_001145852,NM_006017,NM_001145849,NM_001145847,NM_001145851,NM_001145848 PROM1,PROM1,PROM1,PROM1,PROM1,PROM1,PROM1 EXON Missense_I594L,Missense_I585L,Missense_I594L,Missense_I594L,Missense_I585L,Missense_I585L,Missense_I585L exm391025 4 15995626 [T/C] NM_001145850,NM_001145852,NM_006017,NM_001145849,NM_001145847,NM_001145851,NM_001145848 PROM1,PROM1,PROM1,PROM1,PROM1,PROM1,PROM1 EXON Missense_H584R,Missense_H575R,Missense_H584R,Missense_H584R,Missense_H575R,Missense_H575R,Missense_H575R exm391033 4 16000080 [T/C] NM_001145850,NM_001145852,NM_006017,NM_001145849,NM_001145847,NM_001145851,NM_001145848 PROM1,PROM1,PROM1,PROM1,PROM1,PROM1,PROM1 EXON Missense_D537G,Missense_D528G,Missense_D537G,Missense_D537G,Missense_D528G,Missense_D528G,Missense_D528G exm391036 4 16002120 [T/C] NM_001145850,NM_001145852,NM_006017,NM_001145849,NM_001145847,NM_001145851,NM_001145848 PROM1,PROM1,PROM1,PROM1,PROM1,PROM1,PROM1 EXON Missense_R526Q,Missense_R517Q,Missense_R526Q,Missense_R526Q,Missense_R517Q,Missense_R517Q,Missense_R517Q exm391037 4 16002140 [T/G] NM_001145850,NM_001145852,NM_006017,NM_001145849,NM_001145847,NM_001145851,NM_001145848 PROM1,PROM1,PROM1,PROM1,PROM1,PROM1,PROM1 EXON Nonsense_Y519X,Nonsense_Y510X,Nonsense_Y519X,Nonsense_Y519X,Nonsense_Y510X,Nonsense_Y510X,Nonsense_Y510X exm391040 4 16002206 [A/C] NM_001145850,NM_001145852,NM_006017,NM_001145849,NM_001145847,NM_001145851,NM_001145848 PROM1,PROM1,PROM1,PROM1,PROM1,PROM1,PROM1 EXON Missense_L497F,Missense_L488F,Missense_L497F,Missense_L497F,Missense_L488F,Missense_L488F,Missense_L488F exm391041 4 16002228 [T/C] NM_001145850,NM_001145852,NM_006017,NM_001145849,NM_001145847,NM_001145851,NM_001145848 PROM1,PROM1,PROM1,PROM1,PROM1,PROM1,PROM1 EXON Missense_S490N,Missense_S481N,Missense_S490N,Missense_S490N,Missense_S481N,Missense_S481N,Missense_S481N exm391043 4 16008270 [T/C] NM_001145850,NM_001145852,NM_006017,NM_001145849,NM_001145847,NM_001145851,NM_001145848 PROM1,PROM1,PROM1,PROM1,PROM1,PROM1,PROM1 EXON Missense_V449M,Missense_V440M,Missense_V449M,Missense_V449M,Missense_V440M,Missense_V440M,Missense_V440M exm391050 4 16010677 [T/C] NM_001145850,NM_001145852,NM_006017,NM_001145849,NM_001145847,NM_001145851,NM_001145848 PROM1,PROM1,PROM1,PROM1,PROM1,PROM1,PROM1 EXON Missense_R399H,Missense_R390H,Missense_R399H,Missense_R399H,Missense_R390H,Missense_R390H,Missense_R390H exm391053 4 16010722 [G/C] NM_001145850,NM_001145852,NM_006017,NM_001145849,NM_001145847,NM_001145851,NM_001145848 PROM1,PROM1,PROM1,PROM1,PROM1,PROM1,PROM1 EXON Missense_R384T,Missense_R375T,Missense_R384T,Missense_R384T,Missense_R375T,Missense_R375T,Missense_R375T exm391059 4 16019985 [A/C] NM_001145850,NM_001145852,NM_006017,NM_001145849,NM_001145847,NM_001145851,NM_001145848 PROM1,PROM1,PROM1,PROM1,PROM1,PROM1,PROM1 EXON Missense_L321F,Missense_L312F,Missense_L321F,Missense_L321F,Missense_L312F,Missense_L312F,Missense_L312F exm391060 4 16020034 [A/G] NM_001145850,NM_001145852,NM_006017,NM_001145849,NM_001145847,NM_001145851,NM_001145848 PROM1,PROM1,PROM1,PROM1,PROM1,PROM1,PROM1 EXON Missense_P305L,Missense_P296L,Missense_P305L,Missense_P305L,Missense_P296L,Missense_P296L,Missense_P296L exm391064 4 16020080 [T/G] NM_001145850,NM_001145852,NM_006017,NM_001145849,NM_001145847,NM_001145851,NM_001145848 PROM1,PROM1,PROM1,PROM1,PROM1,PROM1,PROM1 EXON Missense_S290R,Missense_S281R,Missense_S290R,Missense_S290R,Missense_S281R,Missense_S281R,Missense_S281R exm391071 4 16020159 [C/G] NM_001145850,NM_001145852,NM_006017,NM_001145849,NM_001145847,NM_001145851,NM_001145848 PROM1,PROM1,PROM1,PROM1,PROM1,PROM1,PROM1 EXON Missense_I263M,Missense_I254M,Missense_I263M,Missense_I263M,Missense_I254M,Missense_I254M,Missense_I254M exm391072 4 16020162 [T/C] NM_001145850,NM_001145852,NM_006017,NM_001145849,NM_001145847,NM_001145851,NM_001145848 PROM1,PROM1,PROM1,PROM1,PROM1,PROM1,PROM1 EXON Synonymous_A262A,Synonymous_A253A,Synonymous_A262A,Synonymous_A262A,Synonymous_A253A,Synonymous_A253A,Synonymous_A253A exm391073 4 16024990 [T/C] NM_001145850,NM_001145852,NM_006017,NM_001145849,NM_001145847,NM_001145851,NM_001145848 PROM1,PROM1,PROM1,PROM1,PROM1,PROM1,PROM1 EXON Missense_N248S,Missense_N239S,Missense_N248S,Missense_N248S,Missense_N239S,Missense_N239S,Missense_N239S exm2261644 4 16025837 [T/C] NM_001145850,NM_001145852,NM_006017,NM_001145849,NM_001145847,NM_001145851,NM_001145848 PROM1,PROM1,PROM1,PROM1,PROM1,PROM1,PROM1 Silent,Silent,Silent,Silent,Silent,Silent,Silent exm2240623 4 16025951 [T/G] NM_001145850,NM_001145852,NM_006017,NM_001145849,NM_001145847,NM_001145851,NM_001145848 PROM1,PROM1,PROM1,PROM1,PROM1,PROM1,PROM1 EXON Missense_T221P,Missense_T212P,Missense_T221P,Missense_T221P,Missense_T212P,Missense_T212P,Missense_T212P exm391081 4 16026840 [T/C] NM_001145850,NM_001145852,NM_006017,NM_001145849,NM_001145847,NM_001145851,NM_001145848 PROM1,PROM1,PROM1,PROM1,PROM1,PROM1,PROM1 EXON Missense_R202Q,Missense_R193Q,Missense_R202Q,Missense_R202Q,Missense_R193Q,Missense_R193Q,Missense_R193Q exm391082 4 16026841 [C/G] NM_001145850,NM_001145852,NM_006017,NM_001145849,NM_001145847,NM_001145851,NM_001145848 PROM1,PROM1,PROM1,PROM1,PROM1,PROM1,PROM1 EXON Missense_R202G,Missense_R193G,Missense_R202G,Missense_R202G,Missense_R193G,Missense_R193G,Missense_R193G exm391085 4 16026921 [T/C] NM_001145850,NM_001145852,NM_006017,NM_001145849,NM_001145847,NM_001145851,NM_001145848 PROM1,PROM1,PROM1,PROM1,PROM1,PROM1,PROM1 EXON Missense_Y175C,Missense_Y166C,Missense_Y175C,Missense_Y175C,Missense_Y166C,Missense_Y166C,Missense_Y166C exm391087 4 16034999 [T/C] NM_001145850,NM_001145852,NM_006017,NM_001145849,NM_001145847,NM_001145851,NM_001145848 PROM1,PROM1,PROM1,PROM1,PROM1,PROM1,PROM1 EXON Missense_R146Q,Missense_R137Q,Missense_R146Q,Missense_R146Q,Missense_R137Q,Missense_R137Q,Missense_R137Q exm391090 4 16035053 [T/C] NM_001145850,NM_001145852,NM_006017,NM_001145849,NM_001145847,NM_001145851,NM_001145848 PROM1,PROM1,PROM1,PROM1,PROM1,PROM1,PROM1 EXON Missense_Y128C,Missense_Y119C,Missense_Y128C,Missense_Y128C,Missense_Y119C,Missense_Y119C,Missense_Y119C exm391092 4 16035060 [T/C] NM_001145850,NM_001145852,NM_006017,NM_001145849,NM_001145847,NM_001145851,NM_001145848 PROM1,PROM1,PROM1,PROM1,PROM1,PROM1,PROM1 EXON Missense_V126M,Missense_V117M,Missense_V126M,Missense_V126M,Missense_V117M,Missense_V117M,Missense_V117M exm391095 4 16035101 [T/C] NM_001145850,NM_001145852,NM_006017,NM_001145849,NM_001145847,NM_001145851,NM_001145848 PROM1,PROM1,PROM1,PROM1,PROM1,PROM1,PROM1 EXON Missense_C112Y,Missense_C103Y,Missense_C112Y,Missense_C112Y,Missense_C103Y,Missense_C103Y,Missense_C103Y exm391104 4 16077349 [T/C] NM_001145850,NM_001145852,NM_006017,NM_001145849,NM_001145847,NM_001145851,NM_001145848 PROM1,PROM1,PROM1,PROM1,PROM1,PROM1,PROM1 EXON Missense_I61V,Missense_I61V,Missense_I61V,Missense_I61V,Missense_I61V,Missense_I61V,Missense_I61V exm391109 4 16077427 [G/C] NM_001145850,NM_001145852,NM_006017,NM_001145849,NM_001145847,NM_001145851,NM_001145848 PROM1,PROM1,PROM1,PROM1,PROM1,PROM1,PROM1 EXON Missense_E35Q,Missense_E35Q,Missense_E35Q,Missense_E35Q,Missense_E35Q,Missense_E35Q,Missense_E35Q exm391111 4 16077475 [A/C] NM_001145850,NM_001145852,NM_006017,NM_001145849,NM_001145847,NM_001145851,NM_001145848 PROM1,PROM1,PROM1,PROM1,PROM1,PROM1,PROM1 EXON Missense_S19A,Missense_S19A,Missense_S19A,Missense_S19A,Missense_S19A,Missense_S19A,Missense_S19A exm391119 4 16165070 [T/C] NM_153365 TAPT1 EXON Missense_N522S exm391121 4 16165136 [A/G] NM_153365 TAPT1 EXON Missense_S500F exm391148 4 16193100 [A/C] NM_153365 TAPT1 EXON Missense_G166C exm391154 4 16204188 [T/G] NM_153365 TAPT1 EXON Missense_I116L exm2265674 4 16427871 [A/G] exm391183 4 16510235 [T/C] NM_001130834,NM_001290 LDB2,LDB2 EXON Missense_A272T,Missense_A272T exm2256464 4 16760830 [A/G] NM_001130834,NM_001290 LDB2,LDB2 EXON Synonymous_D62D,Synonymous_D62D exm2264084 4 16770405 [A/C] NM_001130834,NM_001290 LDB2,LDB2 Silent,Silent exm-rs150260 4 16777175 [T/C] NM_001130834,NM_001290 LDB2,LDB2 Silent,Silent exm2256480 4 17170579 [A/C] exm2269723 4 17309436 [T/C] exm391219 4 17492314 [C/G] NM_000320 QDPR EXON Missense_S200R exm391220 4 17492326 [G/C] NM_000320 QDPR EXON Missense_E196D exm391238 4 17503419 [T/C] NM_000320 QDPR EXON Missense_H120R exm391245 4 17506026 [A/C] NM_000320 QDPR EXON Missense_A91S exm391247 4 17510916 [A/G] NM_000320 QDPR EXON Missense_S59L exm2069878 4 17510940 [T/C] NM_000320 QDPR EXON Missense_S51N exm391265 4 17517141 [A/G] NM_001079827 CLRN2 EXON Synonymous_T84T exm391272 4 17524570 [G/C] NM_001079827 CLRN2 EXON Missense_L113V exm391278 4 17528463 [A/G] NM_001079827 CLRN2 EXON Missense_A153T exm391279 4 17528479 [T/C] NM_001079827 CLRN2 EXON Missense_A158V exm391287 4 17528602 [T/A] NM_001079827 CLRN2 EXON Missense_H199L exm391293 4 17528677 [T/C] NM_001079827 CLRN2 EXON Missense_T224M exm391304 4 17579155 [C/G] NM_015907 LAP3 EXON Missense_G23R exm391320 4 17583923 [A/G] NM_015907 LAP3 EXON Missense_V96M exm391324 4 17583975 [A/C] NM_015907 LAP3 EXON Missense_N113T exm391329 4 17585107 [A/G] NM_015907 LAP3 EXON Synonymous_A127A exm391339 4 17586704 [A/G] NM_015907 LAP3 EXON Missense_E217K exm391340 4 17586734 [A/G] NM_015907 LAP3 EXON Missense_S227G exm391342 4 17586746 [A/G] NM_015907 LAP3 EXON Missense_E231K exm391343 4 17586752 [A/C] NM_015907 LAP3 EXON Missense_H233N exm391347 4 17590549 [A/G] NM_015907 LAP3 EXON Missense_N271S exm2265821 4 17590671 [A/G] NM_015907 LAP3 Silent exm391371 4 17606274 [C/G] NM_015907 LAP3 EXON Missense_W415S exm391378 4 17609080 [C/G] NM_015907 LAP3 EXON Missense_K476N exm391392 4 17616294 [A/G] NM_025205 MED28 EXON Missense_G6E exm391393 4 17616296 [A/G] NM_025205 MED28 EXON Missense_G7S exm391399 4 17616344 [T/C] NM_025205 MED28 EXON Missense_L23F exm391421 4 17625344 [A/G] NM_025205 MED28 EXON Missense_A154T exm2070034 4 17625417 [T/C] NM_025205 MED28 EXON Missense_T178M exm391426 4 17634213 [A/G] NM_015688 FAM184B EXON Missense_V1042A exm391429 4 17635336 [A/G] NM_015688 FAM184B EXON Missense_S1022F exm391432 4 17635388 [T/G] NM_015688 FAM184B EXON Missense_P1005T exm391433 4 17635400 [T/C] NM_015688 FAM184B EXON Missense_I1001V exm391441 4 17636666 [T/C] NM_015688 FAM184B EXON Missense_N952S exm2256496 4 17638178 [T/C] NM_015688 FAM184B EXON Synonymous_E919E exm391449 4 17640880 [C/G] NM_015688 FAM184B EXON Missense_E887Q exm391453 4 17641009 [T/C] NM_015688 FAM184B EXON Missense_E844K exm391454 4 17643730 [A/G] NM_015688 FAM184B EXON Missense_A823V exm391473 4 17660021 [G/C] NM_015688 FAM184B EXON Missense_H663Q exm391476 4 17660082 [T/C] NM_015688 FAM184B EXON Missense_R643H exm391477 4 17660116 [T/G] NM_015688 FAM184B EXON Missense_Q632K exm391480 4 17661628 [A/G] NM_015688 FAM184B EXON Missense_R593C exm391483 4 17690072 [T/C] NM_015688 FAM184B EXON Missense_Q524R exm391485 4 17690115 [A/G] NM_015688 FAM184B EXON Missense_R510C exm391489 4 17706664 [T/C] NM_015688 FAM184B EXON Missense_V446I exm391492 4 17707448 [C/G] NM_015688 FAM184B EXON Missense_G366A exm391493 4 17707449 [T/C] NM_015688 FAM184B EXON Missense_G366S exm391501 4 17710586 [G/C] NM_015688 FAM184B EXON Missense_D275H exm391512 4 17711210 [A/G] NM_015688 FAM184B EXON Missense_R67W exm-rs7678436 4 17797966 [A/G] exm391522 4 17805176 [T/C] NM_017741 DCAF16 EXON Missense_T197A exm391525 4 17805379 [A/G] NM_017741 DCAF16 EXON Missense_T129I exm391529 4 17805487 [A/G] NM_017741 DCAF16 EXON Missense_I93T exm391537 4 17805631 [T/C] NM_017741 DCAF16 EXON Missense_N45S exm391545 4 17812750 [G/C] NM_022346,NR_073124 NCAPG,NCAPG EXON Missense_A17G,Silent exm391563 4 17814763 [T/C] NM_022346,NR_073124 NCAPG,NCAPG EXON Missense_V180A,Silent exm391564 4 17814767 [T/C] NM_022346,NR_073124 NCAPG,NCAPG EXON Synonymous_N181N,Silent exm391566 4 17816572 [T/C] NM_022346,NR_073124 NCAPG,NCAPG EXON Missense_V214A,Silent exm391571 4 17816950 [A/G] NM_022346,NR_073124 NCAPG,NCAPG EXON Missense_M248I,Silent exm391573 4 17818884 [A/G] NM_022346,NR_073124 NCAPG,NCAPG EXON Missense_D259G,Silent exm391574 4 17818885 [T/C] NM_022346,NR_073124 NCAPG,NCAPG EXON Synonymous_D259D,Silent exm391585 4 17819695 [A/G] NM_022346,NR_073124 NCAPG,NCAPG EXON Missense_A368T,Silent exm391596 4 17827108 [A/C] NM_022346,NR_073124 NCAPG,NCAPG EXON Missense_K526T,Silent exm391599 4 17829958 [A/G] NM_022346,NR_073124 NCAPG,NCAPG EXON Missense_M571V,Silent exm391602 4 17829990 [G/C] NM_022346,NR_073124 NCAPG,NCAPG EXON Missense_M581I,Silent exm391615 4 17836081 [A/G] NM_022346,NR_073124 NCAPG,NCAPG EXON Missense_E682K,Silent exm391617 4 17836097 [T/C] NM_022346,NR_073124 NCAPG,NCAPG EXON Missense_A687V,Silent exm2256501 4 17838853 [T/C] NM_022346,NR_073124 NCAPG,NCAPG EXON Synonymous_S727S,Silent exm391629 4 17839266 [T/A] NM_022346,NR_073124 NCAPG,NCAPG EXON Missense_F770I,Silent exm391631 4 17839273 [A/G] NM_022346,NR_073124 NCAPG,NCAPG EXON Missense_E772G,Silent exm391635 4 17841323 [A/G] NM_022346,NR_073124 NCAPG,NCAPG EXON Missense_A831T,Silent exm391638 4 17841383 [A/G] NM_022346,NR_073124 NCAPG,NCAPG EXON Missense_T851A,Silent exm2070266 4 17841404 [A/G] NM_022346,NR_073124 NCAPG,NCAPG EXON Missense_E858K,Silent exm391653 4 17842280 [G/C] NM_022346,NR_073124 NCAPG,NCAPG EXON Missense_Q940E,Silent exm391657 4 17843948 [T/C] NM_022346,NR_073124 NCAPG,NCAPG EXON Missense_T957I,Silent exm391664 4 17844980 [A/G] NM_022346,NR_073124,NM_153686 NCAPG,NCAPG,LCORL EXON Missense_A994T,Silent,Silent exm2273387 4 17847323 [T/C] NM_153686 LCORL EXON Silent exm391671 4 17847399 [A/G] NM_153686 LCORL EXON Missense_A301V exm391673 4 17847432 [T/C] NM_153686 LCORL EXON Missense_R290H exm391685 4 17886146 [A/G] NM_153686,NM_001166139 LCORL,LCORL EXON Silent,Missense_Y336H exm391692 4 17910840 [T/C] NM_153686,NM_001166139 LCORL,LCORL EXON Missense_I187V,Missense_I187V exm-rs16896068 4 17944840 [A/G] NM_153686,NM_001166139 LCORL,LCORL Silent,Silent exm391697 4 17963534 [T/C] NM_153686,NM_001166139 LCORL,LCORL EXON Missense_R141Q,Missense_R141Q exm2265675 4 17972372 [A/G] NM_153686,NM_001166139 LCORL,LCORL Silent,Silent exm-rs6830062 4 18017730 [T/C] NM_153686,NM_001166139 LCORL,LCORL Silent,Silent exm-rs6449353 4 18033488 [T/C] exm2264085 4 18061500 [A/C] exm2264045 4 18194063 [A/C] exm-rs6814594 4 18658198 [T/C] exm2269724 4 18736797 [T/C] exm2269905 4 19005988 [T/C] exm2265676 4 19147496 [A/G] exm2265677 4 19643571 [A/G] exm2265678 4 19915956 [A/G] exm2269906 4 20039702 [T/C] exm391721 4 20259514 [A/G] NM_004787 SLIT2 EXON Missense_S92N exm391724 4 20270485 [T/A] NM_004787 SLIT2 EXON Missense_T126S exm2256544 4 20467767 [T/C] NM_004787 SLIT2 Silent exm391742 4 20490488 [T/C] NM_004787 SLIT2 EXON Missense_L220F exm391747 4 20490564 [A/G] NM_004787 SLIT2 EXON Missense_H245R exm391750 4 20493434 [A/G] NM_004787 SLIT2 EXON Missense_A276T exm-rs666088 4 20495135 [T/C] NM_004787 SLIT2 Silent exm391766 4 20525415 [A/G] NM_004787 SLIT2 EXON Missense_R388Q exm391767 4 20525442 [A/G] NM_004787 SLIT2 EXON Missense_N397S exm391774 4 20525687 [T/C] NM_004787 SLIT2 EXON Missense_A442V exm391778 4 20526789 [A/G] NM_004787 SLIT2 EXON Missense_I486V exm391795 4 20535203 [A/G] NM_004787 SLIT2 EXON Missense_S566N exm391810 4 20543241 [T/C] NM_004787 SLIT2 EXON Synonymous_D714D exm391820 4 20547709 [T/C] NM_004787 SLIT2 EXON Missense_H778Y exm391827 4 20550697 [A/G] NM_004787 SLIT2 EXON Missense_R812H exm391836 4 20555529 [T/G] NM_004787 SLIT2 EXON Missense_G888V exm391860 4 20591308 [T/C] NM_004787 SLIT2 EXON Synonymous_L1044L exm2256545 4 20591308 [T/C] NM_004787 SLIT2 EXON Synonymous_L1044L exm2071880 4 20597357 [G/C] NM_004787 SLIT2 EXON Missense_D1074H exm391871 4 20598044 [T/G] NM_004787 SLIT2 EXON Missense_L1109F exm391873 4 20598079 [A/G] NM_004787 SLIT2 EXON Missense_R1121H exm391895 4 20618734 [A/G] NM_004787 SLIT2 EXON Missense_S1350N exm391905 4 20619178 [T/C] NM_004787 SLIT2 EXON Missense_A1418V exm391906 4 20619192 [A/C] NM_004787 SLIT2 EXON Missense_H1423N exm391912 4 20619258 [G/C] NM_004787 SLIT2 EXON Missense_D1445H exm391915 4 20620442 [T/G] NM_004787 SLIT2 EXON Missense_G1467V exm391917 4 20620478 [A/G] NM_004787 SLIT2 EXON Missense_R1479Q exm391923 4 20620616 [T/C] NM_004787 SLIT2 EXON Missense_T1525M exm-rs1379659 4 20620683 [A/G] NM_004787 SLIT2 EXON Silent exm2240837 4 20706388 [A/G] NM_145048,NR_047661,NM_001258346,NM_001130727,NM_001258345 PACRGL,PACRGL,PACRGL,PACRGL,PACRGL EXON Missense_K53R,Silent,Missense_K53R,Missense_K53R,Missense_K53R exm391945 4 20709441 [T/C] NM_145048,NR_047661,NM_001258346,NM_001130727,NM_001258345 PACRGL,PACRGL,PACRGL,PACRGL,PACRGL EXON Nonsense_R75X,Silent,Silent,Silent,Nonsense_R75X exm391950 4 20711348 [A/T] NM_145048,NR_047661,NM_001258346,NM_001130727,NM_001258345 PACRGL,PACRGL,PACRGL,PACRGL,PACRGL EXON Nonsense_C106X,Silent,Silent,Silent,Nonsense_C106X exm391951 4 20711349 [T/C] NM_145048,NR_047661,NM_001258346,NM_001130727,NM_001258345 PACRGL,PACRGL,PACRGL,PACRGL,PACRGL EXON Missense_P107S,Silent,Silent,Silent,Missense_P107S exm391960 4 20714522 [A/C] NM_145048,NR_047661,NM_001258346,NM_001130727,NM_001258345 PACRGL,PACRGL,PACRGL,PACRGL,PACRGL EXON Missense_I160L,Silent,Missense_I107L,Silent,Missense_I160L exm391970 4 20715151 [C/G] NM_145048,NR_047661,NM_001258346,NM_001130727,NM_001258345 PACRGL,PACRGL,PACRGL,PACRGL,PACRGL EXON Missense_L200V,Silent,Missense_L147V,Missense_L102V,Missense_L200V exm391978 4 20731736 [T/C] NM_025221,NM_147182,NM_001035004,NM_147181,NM_001035003,NM_147183 KCNIP4,KCNIP4,KCNIP4,KCNIP4,KCNIP4,KCNIP4 EXON Missense_R221H,Missense_R179H,Missense_R179H,Missense_R187H,Missense_R216H,Missense_R220H exm391979 4 20731737 [A/G] NM_025221,NM_147182,NM_001035004,NM_147181,NM_001035003,NM_147183 KCNIP4,KCNIP4,KCNIP4,KCNIP4,KCNIP4,KCNIP4 EXON Missense_R221C,Missense_R179C,Missense_R179C,Missense_R187C,Missense_R216C,Missense_R220C exm2269726 4 20807674 [T/C] NM_025221,NM_147182,NM_001035004,NM_147181,NM_001035003,NM_147183 KCNIP4,KCNIP4,KCNIP4,KCNIP4,KCNIP4,KCNIP4 Silent,Silent,Silent,Silent,Silent,Silent exm392002 4 20852166 [A/G] NM_025221,NM_147182,NM_001035004,NM_147181,NM_001035003,NM_147183 KCNIP4,KCNIP4,KCNIP4,KCNIP4,KCNIP4,KCNIP4 EXON Synonymous_N76N,Synonymous_N34N,Synonymous_N34N,Synonymous_N42N,Synonymous_N71N,Synonymous_N75N exm392004 4 20852258 [T/C] NM_025221,NM_147182,NM_001035004,NM_147181,NM_001035003,NM_147183 KCNIP4,KCNIP4,KCNIP4,KCNIP4,KCNIP4,KCNIP4 EXON Missense_V46I,Missense_V4I,Missense_V4I,Missense_V12I,Missense_V41I,Missense_V45I exm2269907 4 21254331 [T/C] NM_147182,NM_001035004,NM_001035003,NM_147183 KCNIP4,KCNIP4,KCNIP4,KCNIP4 Silent,Silent,Silent,Silent exm2269727 4 21324191 [T/C] NM_147182,NM_001035004,NM_001035003 KCNIP4,KCNIP4,KCNIP4 Silent,Silent,Silent exm-rs358592 4 21476990 [T/C] NM_147182,NM_001035004,NM_001035003 KCNIP4,KCNIP4,KCNIP4 Silent,Silent,Silent exm2265679 4 21627809 [A/G] NM_147182,NM_001035003 KCNIP4,KCNIP4 Silent,Silent exm-rs7669724 4 21649840 [T/C] NM_147182,NM_001035003 KCNIP4,KCNIP4 Silent,Silent exm2265822 4 21864975 [A/G] NM_147182 KCNIP4 Silent exm2269728 4 22165174 [T/C] exm392027 4 22389387 [A/C] NM_145290 GPR125 EXON Missense_G1303C exm392032 4 22389464 [T/C] NM_145290 GPR125 EXON Missense_Q1277R exm392033 4 22389468 [T/G] NM_145290 GPR125 EXON Missense_N1276H exm392035 4 22389484 [A/T] NM_145290 GPR125 EXON Synonymous_A1270A exm2256549 4 22389484 [A/T] NM_145290 GPR125 EXON Synonymous_A1270A exm2072026 4 22389552 [T/C] NM_145290 GPR125 EXON Missense_K1248E exm392040 4 22389582 [T/C] NM_145290 GPR125 EXON Missense_D1238N exm392045 4 22389632 [T/C] NM_145290 GPR125 EXON Missense_R1221Q exm392047 4 22389653 [T/G] NM_145290 GPR125 EXON Missense_N1214T exm392052 4 22389707 [G/C] NM_145290 GPR125 EXON Missense_T1196R exm392062 4 22389867 [A/T] NM_145290 GPR125 EXON Missense_T1143S exm392064 4 22390013 [A/G] NM_145290 GPR125 EXON Missense_A1094V exm392069 4 22390043 [T/C] NM_145290 GPR125 EXON Missense_G1084E exm392070 4 22390049 [A/G] NM_145290 GPR125 EXON Missense_T1082M exm392071 4 22390068 [A/G] NM_145290 GPR125 EXON Missense_P1076S exm392074 4 22390167 [T/C] NM_145290 GPR125 EXON Missense_V1043M exm392084 4 22390383 [T/C] NM_145290 GPR125 EXON Missense_N971D exm392086 4 22390400 [T/C] NM_145290 GPR125 EXON Missense_N965S exm392095 4 22394175 [T/C] NM_145290 GPR125 EXON Missense_M874V exm392097 4 22394222 [A/G] NM_145290 GPR125 EXON Missense_A858V exm392099 4 22394239 [T/G] NM_145290 GPR125 EXON Missense_K852N exm392107 4 22403143 [A/G] NM_145290 GPR125 EXON Missense_L798F exm392109 4 22404326 [T/C] NM_145290 GPR125 EXON Missense_V777I exm392113 4 22404391 [A/G] NM_145290 GPR125 EXON Missense_A755V exm392120 4 22414873 [T/C] NM_145290 GPR125 EXON Missense_I722V exm2072066 4 22422603 [A/G] NM_145290 GPR125 EXON Missense_S572L exm392142 4 22422712 [A/G] NM_145290 GPR125 EXON Missense_Y536H exm392143 4 22425837 [T/C] NM_145290 GPR125 EXON Missense_G528S exm392144 4 22425839 [T/G] NM_145290 GPR125 EXON Missense_A527D exm392146 4 22425846 [A/G] NM_145290 GPR125 EXON Missense_R525W exm392148 4 22425893 [T/A] NM_145290 GPR125 EXON Missense_K509I exm392156 4 22437065 [A/C] NM_145290 GPR125 EXON Missense_V438L exm392164 4 22438218 [A/G] NM_145290 GPR125 EXON Missense_R378W exm392168 4 22438254 [T/C] NM_145290 GPR125 EXON Missense_T366A exm392174 4 22439975 [T/C] NM_145290 GPR125 EXON Missense_R330H exm392193 4 22446679 [A/G] NM_145290 GPR125 EXON Missense_T208M exm2072093 4 22446703 [T/C] NM_145290 GPR125 EXON Missense_R200H exm392196 4 22449130 [T/G] NM_145290 GPR125 EXON Missense_L160I exm392197 4 22456492 [T/C] NM_145290 GPR125 EXON Missense_R157Q exm392199 4 22456501 [T/C] NM_145290 GPR125 EXON Missense_N154S exm392208 4 22475444 [A/G] NM_145290 GPR125 EXON Missense_S94P exm2265680 4 22491705 [A/G] NM_145290 GPR125 Silent exm392257 4 22737768 [T/C] NM_001128432,NM_020973 GBA3,GBA3 EXON Missense_R75C,Missense_R75C exm392258 4 22737807 [A/G] NM_001128432,NM_020973 GBA3,GBA3 EXON Missense_T88A,Missense_T88A exm392263 4 22748948 [A/G] NM_001128432,NM_020973 GBA3,GBA3 EXON Silent,Missense_D106N exm392264 4 22748966 [T/G] NM_001128432,NM_020973 GBA3,GBA3 EXON Silent,Missense_V112F exm392266 4 22749008 [A/G] NM_001128432,NM_020973 GBA3,GBA3 EXON Silent,Missense_T126A exm392268 4 22749038 [A/G] NM_001128432,NM_020973 GBA3,GBA3 EXON Silent,Missense_E136K exm392273 4 22749148 [A/G] NM_001128432,NM_020973 GBA3,GBA3 EXON Silent,Missense_M172I exm392277 4 22749176 [A/G] NM_001128432,NM_020973 GBA3,GBA3 EXON Silent,Missense_G182S exm392282 4 22749269 [T/C] NM_001128432,NM_020973 GBA3,GBA3 EXON Silent,Nonsense_R213X exm392283 4 22749270 [G/C] NM_001128432,NM_020973 GBA3,GBA3 EXON Silent,Missense_R213P exm392296 4 22749692 [T/C] NM_001128432,NM_020973 GBA3,GBA3 EXON Silent,Missense_C354R exm392299 4 22750521 [T/C] NM_001128432,NM_020973 GBA3,GBA3 EXON Silent,Missense_A382V exm392300 4 22750541 [T/C] NM_001128432,NM_020973 GBA3,GBA3 EXON Silent,Missense_R389C exm392308 4 22820435 [T/G] NM_001128432,NM_020973 GBA3,GBA3 EXON Missense_F126L,Missense_F433L exm392314 4 22820504 [A/T] NM_001128432,NM_020973 GBA3,GBA3 EXON Missense_X149Y,Missense_X456Y exm2269908 4 22844392 [T/C] exm-rs2102219 4 23036522 [T/C] exm2269729 4 23123307 [T/C] exm-rs12505641 4 23488892 [A/G] exm2261692 4 23770218 [A/G] exm2072194 4 23797521 [C/G] NM_013261 PPARGC1A EXON Missense_A774G exm2269730 4 23801187 [T/C] NM_013261 PPARGC1A Silent exm392323 4 23803448 [A/T] NM_013261 PPARGC1A EXON Missense_E733V exm392330 4 23803919 [T/C] NM_013261 PPARGC1A EXON Missense_R690Q exm392335 4 23814398 [T/C] NM_013261 PPARGC1A EXON Missense_Q664R exm392344 4 23814707 [A/G] NM_013261 PPARGC1A EXON Missense_T612M exm392345 4 23814710 [T/C] NM_013261 PPARGC1A EXON Missense_R611H exm392351 4 23815324 [T/G] NM_013261 PPARGC1A EXON Missense_R594S exm392353 4 23815367 [T/C] NM_013261 PPARGC1A EXON Missense_R580Q exm392355 4 23815376 [A/G] NM_013261 PPARGC1A EXON Missense_S577L exm392358 4 23815410 [A/G] NM_013261 PPARGC1A EXON Missense_R566C exm392363 4 23815506 [A/G] NM_013261 PPARGC1A EXON Missense_F534L exm392367 4 23815620 [T/G] NM_013261 PPARGC1A EXON Missense_K496Q exm392378 4 23815793 [A/G] NM_013261 PPARGC1A EXON Missense_L438S exm392379 4 23815878 [T/G] NM_013261 PPARGC1A EXON Missense_L410I exm392383 4 23816001 [T/C] NM_013261 PPARGC1A EXON Missense_E369K exm392386 4 23816049 [T/C] NM_013261 PPARGC1A EXON Missense_E353K exm392392 4 23816195 [A/G] NM_013261 PPARGC1A EXON Missense_A304V exm392419 4 23886388 [A/G] NM_013261 PPARGC1A EXON Missense_S74L exm2264086 4 24438686 [A/C] exm2264046 4 24480956 [A/C] exm392482 4 24578057 [A/C] NM_001358 DHX15 EXON Missense_A106S exm392499 4 24585971 [T/C] NM_001358 DHX15 EXON Missense_G16S exm392505 4 24801226 [A/G] NM_003102 SOD3 EXON Missense_N28S exm392513 4 24801315 [A/G] NM_003102 SOD3 EXON Missense_A58T exm392515 4 24801414 [A/G] NM_003102 SOD3 EXON Missense_A91T exm392531 4 24810040 [T/C] NM_173463,NM_001130726 CCDC149,CCDC149 EXON Missense_G521R,Missense_G521R exm392533 4 24810093 [T/C] NM_173463,NM_001130726 CCDC149,CCDC149 EXON Missense_R503Q,Missense_R503Q exm392534 4 24810094 [A/G] NM_173463,NM_001130726 CCDC149,CCDC149 EXON Missense_R503W,Missense_R503W exm392553 4 24833212 [G/C] NM_173463,NM_001130726 CCDC149,CCDC149 EXON Missense_S294C,Missense_S294C exm392562 4 24838893 [T/C] NM_173463,NM_001130726 CCDC149,CCDC149 EXON Missense_E207K,Missense_E207K exm392565 4 24838958 [T/C] NM_173463,NM_001130726 CCDC149,CCDC149 EXON Missense_R185Q,Missense_R185Q exm392574 4 24839878 [A/G] NM_173463,NM_001130726 CCDC149,CCDC149 EXON Missense_I130T,Missense_I130T exm392578 4 24854757 [T/A] NM_173463,NM_001130726 CCDC149,CCDC149 EXON Missense_K103N,Missense_K103N exm392580 4 24878214 [T/C] NM_173463,NM_001130726 CCDC149,CCDC149 EXON Missense_A57T,Missense_A57T exm392582 4 24896658 [T/C] NM_173463,NM_001130726 CCDC149,CCDC149 EXON Missense_V7I,Silent exm2240865 4 24981689 [A/T] NM_173463 CCDC149 Silent exm392598 4 25005356 [T/C] NM_018176 LGI2 EXON Missense_Q452R exm392599 4 25005380 [T/C] NM_018176 LGI2 EXON Missense_R444Q exm392604 4 25005431 [T/C] NM_018176 LGI2 EXON Missense_R427Q exm392611 4 25005537 [A/G] NM_018176 LGI2 EXON Missense_R392C exm392612 4 25005584 [A/G] NM_018176 LGI2 EXON Missense_A376V exm392617 4 25005698 [A/G] NM_018176 LGI2 EXON Missense_T338M exm392636 4 25019619 [A/G] NM_018176 LGI2 EXON Missense_T216I exm392657 4 25028529 [T/C] NM_018176 LGI2 EXON Missense_R101Q exm392666 4 25032135 [T/C] NM_018176 LGI2 EXON Missense_G61S exm392677 4 25125665 [T/C] NM_016955 SEPSECS EXON Missense_R465Q exm392678 4 25125703 [G/C] NM_016955 SEPSECS EXON Missense_K452N exm392680 4 25125715 [T/G] NM_016955 SEPSECS EXON Missense_D448E exm392684 4 25125772 [T/G] NM_016955 SEPSECS EXON Nonsense_Y429X exm392685 4 25125783 [T/C] NM_016955 SEPSECS EXON Missense_T426A exm392698 4 25146641 [T/C] NM_016955 SEPSECS EXON Missense_S307G exm392712 4 25156687 [G/C] NM_016955 SEPSECS EXON Missense_L212V exm392717 4 25156774 [T/C] NM_016955 SEPSECS Silent exm392724 4 25157782 [T/C] NM_016955 SEPSECS EXON Missense_M142V exm392757 4 25256846 [T/G] NM_018323 PI4K2B EXON Missense_V195L exm2072345 4 25258211 [A/G] NM_018323 PI4K2B EXON Missense_R224H exm392766 4 25260750 [A/G] NM_018323 PI4K2B EXON Missense_R283K exm392768 4 25260763 [T/G] NM_018323 PI4K2B EXON Missense_Q287H exm2273389 4 25278988 [T/C] NM_018323 PI4K2B EXON Silent exm392797 4 25314478 [C/G] NM_024936 ZCCHC4 EXON Missense_S16T exm392801 4 25314520 [T/C] NM_024936 ZCCHC4 EXON Missense_P30L exm392810 4 25315754 [C/G] NM_024936 ZCCHC4 EXON Missense_D72H exm392811 4 25315760 [A/G] NM_024936 ZCCHC4 EXON Missense_N74D exm392812 4 25316979 [T/C] NM_024936 ZCCHC4 EXON Nonsense_R96X exm392813 4 25316980 [A/G] NM_024936 ZCCHC4 EXON Missense_R96Q exm392814 4 25317003 [T/C] NM_024936 ZCCHC4 EXON Nonsense_R104X exm392817 4 25334918 [A/G] NM_024936 ZCCHC4 EXON Missense_N148S exm392818 4 25334930 [A/C] NM_024936 ZCCHC4 EXON Missense_T152N exm392820 4 25334950 [A/C] NM_024936 ZCCHC4 EXON Missense_Q159K exm392830 4 25335580 [T/C] NM_024936 ZCCHC4 EXON Missense_I219T exm392834 4 25347205 [A/G] NM_024936 ZCCHC4 EXON Missense_H241R exm2072372 4 25353267 [T/C] NM_024936 ZCCHC4 EXON Nonsense_R323X exm392851 4 25363563 [T/C] NM_024936 ZCCHC4 EXON Missense_P365L exm392853 4 25363859 [T/C] NM_024936 ZCCHC4 EXON Missense_P382L exm392859 4 25363901 [T/A] NM_024936 ZCCHC4 EXON Missense_L396H exm392861 4 25363919 [A/C] NM_024936 ZCCHC4 EXON Missense_S402Y exm392867 4 25366746 [A/G] NM_024936 ZCCHC4 EXON Missense_R455H exm392871 4 25370666 [T/G] NM_024936 ZCCHC4 EXON Missense_Q474H exm392872 4 25370669 [T/G] NM_024936 ZCCHC4 EXON Missense_K475N exm392873 4 25370670 [A/C] NM_024936 ZCCHC4 EXON Missense_Q476K exm-rs16877106 4 25403266 [T/C] NM_013367 ANAPC4 Silent exm392932 4 25408838 [A/G] NM_013367 ANAPC4 EXON Missense_R465Q exm392940 4 25415982 [A/G] NM_013367 ANAPC4 EXON Missense_I554V exm-rs3816587 4 25417244 [T/C] NM_013367 ANAPC4 Silent exm392960 4 25419239 [T/C] NM_013367 ANAPC4 EXON Synonymous_L693L exm2256558 4 25419283 [T/C] NM_013367 ANAPC4 EXON Synonymous_F707F exm2265824 4 25575537 [A/G] exm392986 4 25664344 [T/C] NM_001177998,NM_006424,NM_001177999 SLC34A2,SLC34A2,SLC34A2 EXON Missense_P43S,Missense_P44S,Missense_P43S exm392987 4 25664345 [G/C] NM_001177998,NM_006424,NM_001177999 SLC34A2,SLC34A2,SLC34A2 EXON Missense_P43R,Missense_P44R,Missense_P43R exm392988 4 25664348 [T/C] NM_001177998,NM_006424,NM_001177999 SLC34A2,SLC34A2,SLC34A2 EXON Missense_V44A,Missense_V45A,Missense_V44A exm392990 4 25664378 [C/G] NM_001177998,NM_006424,NM_001177999 SLC34A2,SLC34A2,SLC34A2 EXON Missense_S54C,Missense_S55C,Missense_S54C exm392991 4 25664381 [T/C] NM_001177998,NM_006424,NM_001177999 SLC34A2,SLC34A2,SLC34A2 EXON Missense_T55M,Missense_T56M,Missense_T55M exm393016 4 25671333 [A/G] NM_001177998,NM_006424,NM_001177999 SLC34A2,SLC34A2,SLC34A2 EXON Missense_V233M,Missense_V234M,Missense_V233M exm393022 4 25672369 [A/G] NM_001177998,NM_006424,NM_001177999 SLC34A2,SLC34A2,SLC34A2 EXON Missense_K280E,Missense_K281E,Missense_K280E exm393026 4 25673231 [T/G] NM_001177998,NM_006424,NM_001177999 SLC34A2,SLC34A2,SLC34A2 EXON Missense_I311M,Missense_I312M,Missense_I311M exm393030 4 25673269 [T/C] NM_001177998,NM_006424,NM_001177999 SLC34A2,SLC34A2,SLC34A2 EXON Missense_P324L,Missense_P325L,Missense_P324L exm393039 4 25674739 [T/C] NM_001177998,NM_006424,NM_001177999 SLC34A2,SLC34A2,SLC34A2 EXON Missense_P359L,Missense_P360L,Missense_P359L exm393041 4 25674867 [A/G] NM_001177998,NM_006424,NM_001177999 SLC34A2,SLC34A2,SLC34A2 EXON Missense_I402V,Missense_I403V,Missense_I402V exm393049 4 25675943 [C/G] NM_001177998,NM_006424,NM_001177999 SLC34A2,SLC34A2,SLC34A2 EXON Missense_L413F,Missense_L414F,Missense_L413F exm393051 4 25675965 [A/G] NM_001177998,NM_006424,NM_001177999 SLC34A2,SLC34A2,SLC34A2 EXON Missense_V421I,Missense_V422I,Missense_V421I exm393053 4 25675989 [A/G] NM_001177998,NM_006424,NM_001177999 SLC34A2,SLC34A2,SLC34A2 EXON Missense_V429I,Missense_V430I,Missense_V429I exm2256559 4 25676167 [A/G] NM_001177998,NM_006424,NM_001177999 SLC34A2,SLC34A2,SLC34A2 EXON Synonymous_T457T,Synonymous_T458T,Synonymous_T457T exm393062 4 25676253 [T/C] NM_001177998,NM_006424,NM_001177999 SLC34A2,SLC34A2,SLC34A2 Silent,Silent,Silent exm393064 4 25677835 [C/G] NM_001177998,NM_006424,NM_001177999 SLC34A2,SLC34A2,SLC34A2 EXON Missense_R512G,Missense_R513G,Missense_R512G exm393086 4 25678199 [A/G] NM_001177998,NM_006424,NM_001177999 SLC34A2,SLC34A2,SLC34A2 EXON Missense_D633G,Missense_D634G,Missense_D633G exm393094 4 25678358 [C/G] NM_001177998,NM_006424,NM_001177999 SLC34A2,SLC34A2,SLC34A2 EXON Missense_C686S,Missense_C687S,Missense_C686S exm393098 4 25750082 [A/G] NM_015187 SEL1L3 EXON Missense_P1122S exm393099 4 25750135 [G/C] NM_015187 SEL1L3 EXON Missense_S1104C exm393101 4 25750145 [T/G] NM_015187 SEL1L3 EXON Missense_T1101P exm393106 4 25759334 [G/C] NM_015187 SEL1L3 EXON Missense_W1054C exm393122 4 25769216 [A/G] NM_015187 SEL1L3 EXON Missense_Y926H exm393130 4 25780803 [T/C] NM_015187 SEL1L3 EXON Missense_H827R exm393152 4 25806270 [T/C] NM_015187 SEL1L3 EXON Missense_I557V exm393153 4 25806279 [T/C] NM_015187 SEL1L3 EXON Missense_I554V exm-rs959903 4 25810096 [A/G] NM_015187 SEL1L3 Silent exm393164 4 25819793 [A/G] NM_015187 SEL1L3 EXON Missense_F511L exm393179 4 25823623 [T/C] NM_015187 SEL1L3 EXON Missense_A429T exm393185 4 25831756 [T/C] NM_015187 SEL1L3 EXON Missense_G374E exm393187 4 25834624 [T/C] NM_015187 SEL1L3 EXON Missense_G364E exm393189 4 25834670 [T/C] NM_015187 SEL1L3 EXON Missense_I349V exm393191 4 25834731 [A/G] NM_015187 SEL1L3 EXON Synonymous_G328G exm393192 4 25835078 [A/G] NM_015187 SEL1L3 EXON Missense_T325M exm393193 4 25835100 [T/C] NM_015187 SEL1L3 EXON Missense_G318S exm393198 4 25836819 [A/G] NM_015187 SEL1L3 EXON Missense_V287A exm393201 4 25836878 [T/G] NM_015187 SEL1L3 EXON Missense_F267L exm393211 4 25849141 [A/C] NM_015187 SEL1L3 EXON Missense_A170S exm393216 4 25849329 [T/C] NM_015187 SEL1L3 EXON Missense_Q107R exm393218 4 25849363 [T/C] NM_015187 SEL1L3 EXON Missense_V96I exm2269732 4 25913155 [T/C] exm393227 4 25915957 [A/G] NM_001145432 C4orf52 EXON Missense_A8T exm-rs10517086 4 26085511 [A/G] exm-rs874040 4 26108197 [C/G] exm393234 4 26322449 [C/G] NM_005349,NM_203283,NM_015874,NM_203284 RBPJ,RBPJ,RBPJ,RBPJ EXON Silent,Silent,Silent,Silent exm393265 4 26417161 [A/C] NM_005349,NM_203283,NM_015874,NM_203284 RBPJ,RBPJ,RBPJ,RBPJ EXON Missense_M87L,Missense_M72L,Missense_M74L,Missense_M73L exm393285 4 26431635 [T/C] NM_005349,NM_203283,NM_015874,NM_203284 RBPJ,RBPJ,RBPJ,RBPJ EXON Missense_L348P,Missense_L333P,Missense_L335P,Missense_L334P exm393286 4 26431638 [T/C] NM_005349,NM_203283,NM_015874,NM_203284 RBPJ,RBPJ,RBPJ,RBPJ EXON Missense_A349V,Missense_A334V,Missense_A336V,Missense_A335V exm393302 4 26432576 [A/G] NM_005349,NM_203283,NM_015874,NM_203284 RBPJ,RBPJ,RBPJ,RBPJ EXON Missense_A484T,Missense_A469T,Missense_A471T,Missense_A470T exm2240884 4 26483276 [A/G] NM_000730 CCKAR EXON Missense_S424L exm393318 4 26483454 [T/C] NM_000730 CCKAR EXON Missense_V365I exm393327 4 26483637 [T/G] NM_000730 CCKAR EXON Missense_N304H exm393343 4 26484805 [T/C] NM_000730 CCKAR EXON Missense_E243K exm393349 4 26484904 [A/G] NM_000730 CCKAR EXON Missense_H210Y exm393359 4 26487361 [A/G] NM_000730 CCKAR EXON Missense_P175L exm393363 4 26487431 [A/G] NM_000730 CCKAR EXON Missense_W152R exm393365 4 26487443 [G/C] NM_000730 CCKAR EXON Missense_Q148E exm393366 4 26487460 [A/G] NM_000730 CCKAR EXON Missense_A142V exm2072626 4 26490914 [T/C] NM_000730 CCKAR EXON Missense_N102S exm393376 4 26490969 [A/C] NM_000730 CCKAR EXON Missense_A84S exm393395 4 26491793 [T/G] NM_000730 CCKAR EXON Missense_P33T exm393413 4 26622257 [T/G] NM_018317 TBC1D19 EXON Missense_A81S exm393421 4 26641770 [A/C] NM_018317 TBC1D19 EXON Missense_S147R exm393424 4 26661234 [T/C] NM_018317 TBC1D19 EXON Missense_R166C exm393437 4 26675415 [A/G] NM_018317 TBC1D19 EXON Missense_S241G exm393439 4 26675455 [T/C] NM_018317 TBC1D19 EXON Missense_T254M exm393465 4 26741578 [A/G] NM_018317 TBC1D19 EXON Missense_I404V exm393474 4 26756541 [A/G] NM_018317 TBC1D19 EXON Missense_Q518R exm393503 4 27000886 [A/C] NM_001169117,NM_020860,NM_001169118 STIM2,STIM2,STIM2 EXON Missense_S181Y,Missense_S181Y,Missense_S181Y exm393538 4 27019334 [T/G] NM_001169117,NM_020860,NM_001169118 STIM2,STIM2,STIM2 EXON Synonymous_G497G,Synonymous_G497G,Synonymous_G505G exm393542 4 27019393 [A/G] NM_001169117,NM_020860,NM_001169118 STIM2,STIM2,STIM2 EXON Missense_R517H,Missense_R517H,Missense_R525H exm393550 4 27019452 [T/C] NM_001169117,NM_020860,NM_001169118 STIM2,STIM2,STIM2 EXON Missense_H537Y,Missense_H537Y,Missense_H545Y exm393551 4 27019456 [T/C] NM_001169117,NM_020860,NM_001169118 STIM2,STIM2,STIM2 EXON Missense_P538L,Missense_P538L,Missense_P546L exm393558 4 27019510 [T/C] NM_001169117,NM_020860,NM_001169118 STIM2,STIM2,STIM2 EXON Missense_S556F,Missense_S556F,Missense_S564F exm393562 4 27024173 [T/C] NM_001169117,NM_020860,NM_001169118 STIM2,STIM2,STIM2 EXON Silent,Missense_S599F,Missense_S607F exm393571 4 27024347 [T/C] NM_001169117,NM_020860,NM_001169118 STIM2,STIM2,STIM2 EXON Silent,Missense_T657I,Missense_T665I exm393580 4 27024524 [A/G] NM_001169117,NM_020860,NM_001169118 STIM2,STIM2,STIM2 EXON Silent,Missense_R716K,Missense_R724K exm-rs11940551 4 27162478 [T/G] exm2269910 4 27167833 [T/C] exm2256563 4 27216501 [T/C] exm2265681 4 27760141 [A/G] exm2264087 4 28202490 [A/C] exm2256568 4 28473048 [A/C] exm2256569 4 28669712 [A/G] exm2265825 4 28872833 [A/G] exm2269735 4 29339030 [T/C] exm2264049 4 29755511 [A/C] exm-rs7442317 4 29903052 [A/G] exm2264088 4 29998461 [A/C] exm2265683 4 30407029 [A/G] exm393609 4 30723174 [T/G] NM_032456,NM_032457,NM_002589,NM_001173523 PCDH7,PCDH7,PCDH7,PCDH7 EXON Missense_A44S,Missense_A44S,Missense_A44S,Missense_A44S exm393625 4 30724018 [T/C] NM_032456,NM_032457,NM_002589,NM_001173523 PCDH7,PCDH7,PCDH7,PCDH7 EXON Missense_T325I,Missense_T325I,Missense_T325I,Missense_T325I exm393646 4 30724586 [A/C] NM_032456,NM_032457,NM_002589,NM_001173523 PCDH7,PCDH7,PCDH7,PCDH7 EXON Missense_S514R,Missense_S514R,Missense_S514R,Missense_S514R exm393647 4 30724609 [T/C] NM_032456,NM_032457,NM_002589,NM_001173523 PCDH7,PCDH7,PCDH7,PCDH7 EXON Missense_I522T,Missense_I522T,Missense_I522T,Missense_I522T exm393661 4 30724857 [T/C] NM_032456,NM_032457,NM_002589,NM_001173523 PCDH7,PCDH7,PCDH7,PCDH7 EXON Missense_Y605H,Missense_Y605H,Missense_Y605H,Missense_Y605H exm393674 4 30725272 [T/C] NM_032456,NM_032457,NM_002589,NM_001173523 PCDH7,PCDH7,PCDH7,PCDH7 EXON Missense_T743I,Missense_T743I,Missense_T743I,Missense_T743I exm393678 4 30725496 [T/G] NM_032456,NM_032457,NM_002589,NM_001173523 PCDH7,PCDH7,PCDH7,PCDH7 EXON Missense_V818L,Missense_V818L,Missense_V818L,Missense_V818L exm393680 4 30725539 [T/C] NM_032456,NM_032457,NM_002589,NM_001173523 PCDH7,PCDH7,PCDH7,PCDH7 EXON Missense_T832M,Missense_T832M,Missense_T832M,Missense_T832M exm393688 4 30725734 [T/C] NM_032456,NM_032457,NM_002589,NM_001173523 PCDH7,PCDH7,PCDH7,PCDH7 EXON Missense_I897T,Missense_I897T,Missense_I897T,Missense_I897T exm393689 4 30725755 [A/G] NM_032456,NM_032457,NM_002589,NM_001173523 PCDH7,PCDH7,PCDH7,PCDH7 EXON Missense_C904Y,Missense_C904Y,Missense_C904Y,Missense_C904Y exm393705 4 30726045 [T/C] NM_032456,NM_032457,NM_002589,NM_001173523 PCDH7,PCDH7,PCDH7,PCDH7 EXON Missense_P1001S,Missense_P1001S,Missense_P1001S,Missense_P1001S exm393710 4 30726226 [A/G] NM_032456,NM_032457,NM_002589,NM_001173523 PCDH7,PCDH7,PCDH7,PCDH7 EXON Missense_C1061Y,Silent,Silent,Silent exm393722 4 30921913 [T/G] NM_032457,NM_001173523 PCDH7,PCDH7 EXON Missense_A1105S,Missense_A1105S exm2269911 4 31012310 [T/C] NM_032457,NM_001173523 PCDH7,PCDH7 Silent,Silent exm393731 4 31144187 [T/C] NM_032457,NM_001173523 PCDH7,PCDH7 EXON Missense_R1154C,Missense_R1162C exm393737 4 31144294 [C/G] NM_032457,NM_001173523 PCDH7,PCDH7 EXON Missense_M1189I,Missense_M1197I exm393739 4 31144386 [A/G] NM_032457,NM_001173523 PCDH7,PCDH7 EXON Missense_N1220S,Missense_N1228S exm2256576 4 31147272 [A/C] NM_032457,NM_001173523 PCDH7,PCDH7 EXON Silent,Silent exm2261701 4 31461728 [A/G] exm2265684 4 31627136 [A/G] exm2265685 4 32260388 [A/G] exm2265827 4 32268382 [A/G] exm2264051 4 32501462 [A/C] exm2265828 4 32962030 [A/G] exm2269736 4 33200295 [T/C] exm2269912 4 33762750 [T/C] exm2269737 4 33953964 [T/C] exm-rs17390445 4 34893855 [A/G] exm2265687 4 34924357 [A/G] exm-rs437943 4 35372098 [T/C] exm-rs1533317 4 35410631 [T/C] exm2256588 4 35653192 [T/G] exm2261707 4 36048773 [A/G] exm393747 4 36069541 [A/C] NM_015230 ARAP2 EXON Missense_Q1701H exm393748 4 36069552 [T/G] NM_015230 ARAP2 EXON Missense_Q1698K exm393755 4 36069752 [T/C] NM_015230 ARAP2 EXON Missense_R1631Q exm393756 4 36069767 [T/C] NM_015230 ARAP2 EXON Missense_R1626Q exm393769 4 36075373 [T/C] NM_015230 ARAP2 EXON Missense_G1561S exm393777 4 36081878 [T/C] NM_015230 ARAP2 EXON Missense_R1523Q exm393778 4 36083895 [T/C] NM_015230 ARAP2 EXON Missense_A1508T exm393787 4 36093517 [A/G] NM_015230 ARAP2 EXON Missense_Y1471H exm2073437 4 36093553 [A/G] NM_015230 ARAP2 EXON Missense_R1459W exm393790 4 36093639 [T/C] NM_015230 ARAP2 EXON Missense_R1430Q exm393805 4 36118684 [T/C] NM_015230 ARAP2 EXON Missense_R1346Q exm393806 4 36118685 [A/G] NM_015230 ARAP2 EXON Missense_R1346W exm2073446 4 36118703 [T/C] NM_015230 ARAP2 EXON Missense_D1340N exm393822 4 36126541 [T/C] NM_015230 ARAP2 EXON Missense_R1230H exm393823 4 36126568 [A/C] NM_015230 ARAP2 EXON Missense_R1221I exm393832 4 36130292 [T/G] NM_015230 ARAP2 EXON Missense_K1168T exm393833 4 36130316 [T/C] NM_015230 ARAP2 EXON Missense_S1160N exm2240938 4 36130336 [A/C] NM_015230 ARAP2 EXON Missense_N1153K exm393839 4 36134940 [C/G] NM_015230 ARAP2 EXON Missense_G1112A exm393854 4 36149353 [A/G] NM_015230 ARAP2 EXON Missense_F1006L exm2073469 4 36150091 [T/C] NM_015230 ARAP2 EXON Missense_R979H exm393861 4 36152535 [A/G] NM_015230 ARAP2 EXON Missense_Y962H exm2240939 4 36152588 [T/C] NM_015230 ARAP2 EXON Missense_G944D exm393866 4 36152592 [T/G] NM_015230 ARAP2 EXON Missense_N943H exm393874 4 36160432 [T/G] NM_015230 ARAP2 EXON Missense_Q891P exm393875 4 36160441 [T/A] NM_015230 ARAP2 EXON Missense_E888V exm393894 4 36163089 [C/G] NM_015230 ARAP2 EXON Missense_E753Q exm393902 4 36166629 [T/C] NM_015230 ARAP2 EXON Missense_N694D exm393904 4 36166659 [T/C] NM_015230 ARAP2 EXON Missense_D684N exm393912 4 36168602 [T/C] NM_015230 ARAP2 EXON Missense_R642Q exm2073505 4 36179535 [A/G] NM_015230 ARAP2 EXON Missense_C591R exm393916 4 36179546 [A/G] NM_015230 ARAP2 EXON Missense_T587I exm393927 4 36195264 [T/C] NM_015230 ARAP2 EXON Missense_R498H exm393928 4 36195265 [A/G] NM_015230 ARAP2 EXON Missense_R498C exm393930 4 36212049 [A/C] NM_015230 ARAP2 EXON Missense_V484F exm393939 4 36212163 [T/C] NM_015230 ARAP2 EXON Missense_V446I exm393941 4 36212303 [T/C] NM_015230 ARAP2 EXON Missense_R399Q exm393943 4 36212347 [A/C] NM_015230 ARAP2 EXON Missense_K384N exm393964 4 36230300 [T/C] NM_015230 ARAP2 EXON Missense_S270N exm393971 4 36230585 [T/C] NM_015230 ARAP2 EXON Missense_N175S exm393972 4 36230607 [A/C] NM_015230 ARAP2 EXON Missense_D168Y exm393973 4 36230634 [A/G] NM_015230 ARAP2 EXON Missense_P159S exm393974 4 36230658 [A/G] NM_015230 ARAP2 EXON Missense_R151C exm393978 4 36230761 [G/C] NM_015230 ARAP2 EXON Missense_S116R exm393986 4 36230843 [A/G] NM_015230 ARAP2 EXON Missense_P89L exm393992 4 36231081 [T/C] NM_015230 ARAP2 EXON Missense_D10N exm393996 4 36285777 [A/G] NR_073198,NM_001170700 DTHD1,DTHD1 EXON Silent,Missense_G26R exm393998 4 36286015 [A/C] NR_073198,NM_001170700 DTHD1,DTHD1 EXON Silent,Missense_E105A exm394002 4 36292018 [T/A] NR_073198,NM_001170700 DTHD1,DTHD1 EXON Silent,Missense_V179D exm394011 4 36292326 [T/G] NR_073198,NM_001170700 DTHD1,DTHD1 Silent,Silent exm394028 4 36310049 [T/C] NR_073198,NM_001170700 DTHD1,DTHD1 EXON Silent,Missense_R552C exm394030 4 36310065 [A/G] NR_073198,NM_001170700 DTHD1,DTHD1 EXON Silent,Missense_R557Q exm394034 4 36317965 [T/C] NR_073198,NM_001170700 DTHD1,DTHD1 EXON Silent,Missense_Y608H exm394039 4 36340753 [A/G] NR_073198,NM_001170700 DTHD1,DTHD1 EXON Silent,Missense_R662H exm394040 4 36340755 [A/C] NR_073198,NM_001170700 DTHD1,DTHD1 EXON Silent,Missense_P663T exm394045 4 36345345 [A/C] NR_073198,NM_001170700 DTHD1,DTHD1 EXON Silent,Missense_R749S exm2240947 4 36345346 [A/G] NR_073198,NM_001170700 DTHD1,DTHD1 EXON Silent,Missense_R749H exm2265688 4 36398436 [A/G] exm2269740 4 36624280 [T/C] exm2261708 4 36823862 [A/C] exm-rs13117816 4 37064331 [T/G] exm2256592 4 37291336 [A/G] NM_001144990 KIAA1239 Silent exm394054 4 37432261 [T/C] NM_001144990 KIAA1239 EXON Missense_M142T exm394061 4 37440516 [A/G] NM_001144990 KIAA1239 EXON Missense_E267G exm394069 4 37444961 [A/G] NM_001144990 KIAA1239 EXON Missense_V451M exm394074 4 37445144 [A/G] NM_001144990 KIAA1239 EXON Missense_I512V exm394077 4 37445315 [A/C] NM_001144990 KIAA1239 EXON Missense_L569M exm394095 4 37445868 [A/G] NM_001144990 KIAA1239 EXON Missense_R753H exm394118 4 37447211 [G/C] NM_001144990 KIAA1239 EXON Missense_Q1201E exm394135 4 37448157 [A/G] NM_001144990 KIAA1239 EXON Missense_R1516H exm394136 4 37448297 [A/G] NM_001144990 KIAA1239 EXON Missense_A1563T exm394152 4 37591785 [T/C] NM_001104629,NM_018302 C4orf19,C4orf19 EXON Synonymous_D36D,Synonymous_D36D exm394153 4 37591794 [T/A] NM_001104629,NM_018302 C4orf19,C4orf19 EXON Missense_D39E,Missense_D39E exm394155 4 37591843 [T/C] NM_001104629,NM_018302 C4orf19,C4orf19 EXON Missense_P56S,Missense_P56S exm2240950 4 37591942 [A/G] NM_001104629,NM_018302 C4orf19,C4orf19 EXON Missense_A89T,Missense_A89T exm394158 4 37591955 [A/T] NM_001104629,NM_018302 C4orf19,C4orf19 EXON Missense_H93L,Missense_H93L exm394159 4 37591966 [A/G] NM_001104629,NM_018302 C4orf19,C4orf19 EXON Missense_G97S,Missense_G97S exm2073535 4 37591974 [C/G] NM_001104629,NM_018302 C4orf19,C4orf19 EXON Missense_N99K,Missense_N99K exm394162 4 37592044 [T/C] NM_001104629,NM_018302 C4orf19,C4orf19 EXON Missense_W123R,Missense_W123R exm394163 4 37592075 [T/C] NM_001104629,NM_018302 C4orf19,C4orf19 EXON Missense_T133I,Missense_T133I exm394169 4 37592128 [A/G] NM_001104629,NM_018302 C4orf19,C4orf19 EXON Missense_A151T,Missense_A151T exm394172 4 37592212 [T/C] NM_001104629,NM_018302 C4orf19,C4orf19 EXON Missense_H179Y,Missense_H179Y exm394173 4 37592236 [A/G] NM_001104629,NM_018302 C4orf19,C4orf19 EXON Missense_D187N,Missense_D187N exm394174 4 37592249 [T/A] NM_001104629,NM_018302 C4orf19,C4orf19 EXON Missense_H191L,Missense_H191L exm394182 4 37592369 [T/C] NM_001104629,NM_018302 C4orf19,C4orf19 EXON Missense_T231M,Missense_T231M exm394183 4 37592408 [A/G] NM_001104629,NM_018302 C4orf19,C4orf19 EXON Missense_E244G,Missense_E244G exm394187 4 37592498 [A/G] NM_001104629,NM_018302,NM_001085399 C4orf19,C4orf19,RELL1 EXON Missense_E274G,Missense_E274G,Silent exm394197 4 37633026 [T/C] NM_001085399,NM_001085400 RELL1,RELL1 EXON Missense_R267H,Missense_R267H exm394198 4 37633027 [A/G] NM_001085399,NM_001085400 RELL1,RELL1 EXON Missense_R267C,Missense_R267C exm394205 4 37636545 [T/C] NM_001085399,NM_001085400 RELL1,RELL1 EXON Missense_R215Q,Missense_R215Q exm394207 4 37636608 [T/C] NM_001085399,NM_001085400 RELL1,RELL1 EXON Missense_R194Q,Missense_R194Q exm394208 4 37636609 [A/G] NM_001085399,NM_001085400 RELL1,RELL1 EXON Missense_R194W,Missense_R194W exm394209 4 37636636 [T/C] NM_001085399,NM_001085400 RELL1,RELL1 EXON Missense_G185S,Missense_G185S exm394222 4 37640126 [A/G] NM_001085399,NM_001085400 RELL1,RELL1 EXON Missense_A129V,Missense_A129V exm394233 4 37651063 [T/C] NM_001085399,NM_001085400 RELL1,RELL1 EXON Missense_D50N,Missense_D50N exm394234 4 37651074 [A/G] NM_001085399,NM_001085400 RELL1,RELL1 EXON Missense_S46L,Missense_S46L exm394241 4 37828402 [A/C] NM_018290 PGM2 EXON Missense_D16E exm394243 4 37831604 [A/G] NM_018290 PGM2 EXON Missense_A34T exm394249 4 37831719 [A/G] NM_018290 PGM2 EXON Missense_R72H exm394253 4 37836294 [A/G] NM_018290 PGM2 EXON Missense_V102M exm394260 4 37839164 [A/G] NM_018290 PGM2 EXON Missense_A124T exm394267 4 37841715 [A/G] NM_018290 PGM2 EXON Missense_I185V exm394270 4 37841767 [T/C] NM_018290 PGM2 EXON Missense_P202L exm2256595 4 37847307 [T/C] NM_018290 PGM2 EXON Synonymous_N321N exm394289 4 37848578 [A/G] NM_018290 PGM2 EXON Missense_N345S exm394296 4 37848697 [T/C] NM_018290 PGM2 EXON Missense_R385W exm394305 4 37850188 [T/C] NM_018290 PGM2 EXON Missense_A443V exm394309 4 37851814 [A/C] NM_018290 PGM2 EXON Nonsense_Y474X exm394310 4 37851856 [A/C] NM_018290 PGM2 EXON Missense_E488D exm394311 4 37851857 [A/G] NM_018290 PGM2 EXON Missense_T489A exm394320 4 37857286 [A/G] NM_018290 PGM2 EXON Missense_V554M exm394321 4 37857296 [T/C] NM_018290 PGM2 EXON Missense_M557T exm394322 4 37857299 [A/G] NM_018290 PGM2 EXON Missense_R558H exm394324 4 37857332 [A/G] NM_018290 PGM2 EXON Missense_Y569C exm394327 4 37863193 [T/C] NM_018290 PGM2 EXON Missense_F600S exm2073593 4 37863204 [A/G] NM_018290 PGM2 EXON Missense_K604E exm394335 4 37903756 [T/C] NM_001253912,NM_015173 TBC1D1,TBC1D1 EXON Missense_S14P,Missense_S14P exm394343 4 37903880 [T/C] NM_001253912,NM_015173 TBC1D1,TBC1D1 EXON Missense_T55I,Missense_T55I exm394350 4 37904089 [T/C] NM_001253912,NM_015173 TBC1D1,TBC1D1 EXON Missense_R125W,Missense_R125W exm394354 4 37962104 [T/C] NM_001253912,NM_015173,NM_006607 TBC1D1,TBC1D1,PTTG2 EXON Silent,Silent,Missense_R17C exm394357 4 37962186 [G/C] NM_001253912,NM_015173,NM_006607 TBC1D1,TBC1D1,PTTG2 EXON Silent,Silent,Missense_R44P exm394361 4 37962249 [A/G] NM_001253912,NM_015173,NM_006607 TBC1D1,TBC1D1,PTTG2 EXON Silent,Silent,Missense_G65D exm394364 4 37962334 [A/G] NM_001253912,NM_015173,NM_006607 TBC1D1,TBC1D1,PTTG2 EXON Silent,Silent,Missense_M93I exm394370 4 37962455 [T/C] NM_001253912,NM_015173,NM_006607 TBC1D1,TBC1D1,PTTG2 EXON Silent,Silent,Missense_R134C exm394378 4 37962617 [A/G] NM_001253912,NM_015173,NM_006607 TBC1D1,TBC1D1,PTTG2 EXON Silent,Silent,Missense_D188N exm2269741 4 37996334 [T/C] NM_001253912,NM_015173 TBC1D1,TBC1D1 Silent,Silent exm394390 4 38016357 [A/C] NM_001253912,NM_015173 TBC1D1,TBC1D1 EXON Missense_N215K,Missense_N215K exm394401 4 38016517 [A/G] NM_001253912,NM_015173 TBC1D1,TBC1D1 EXON Missense_I269V,Missense_I269V exm394408 4 38019979 [A/G] NM_001253912,NM_015173 TBC1D1,TBC1D1 EXON Missense_G296D,Missense_G296D exm394413 4 38022219 [A/G] NM_001253912,NM_015173 TBC1D1,TBC1D1 EXON Missense_R327K,Missense_R327K exm394417 4 38022282 [A/T] NM_001253912,NM_015173 TBC1D1,TBC1D1 EXON Missense_V348D,Missense_V348D exm394423 4 38023294 [A/G] NM_001253912,NM_015173 TBC1D1,TBC1D1 EXON Missense_G389S,Missense_G389S exm394425 4 38023301 [G/C] NM_001253912,NM_015173 TBC1D1,TBC1D1 EXON Missense_P391R,Missense_P391R exm394433 4 38029466 [A/G] NM_001253912,NM_015173 TBC1D1,TBC1D1 EXON Missense_N423S,Missense_N423S exm394435 4 38037303 [T/C] NM_001253912,NM_015173 TBC1D1,TBC1D1 EXON Missense_I466T,Missense_I466T exm394439 4 38045998 [A/G] NM_001253912,NM_015173 TBC1D1,TBC1D1 EXON Missense_A477T,Missense_A477T exm394448 4 38051283 [G/C] NM_001253912,NM_015173 TBC1D1,TBC1D1 EXON Missense_S558R,Missense_S558R exm394454 4 38051363 [T/C] NM_001253912,NM_015173 TBC1D1,TBC1D1 EXON Missense_S585L,Missense_S585L exm394458 4 38051458 [A/G] NM_001253912,NM_015173 TBC1D1,TBC1D1 EXON Missense_V617I,Missense_V617I exm394461 4 38051465 [A/G] NM_001253912,NM_015173 TBC1D1,TBC1D1 EXON Missense_Q619R,Missense_Q619R exm394470 4 38055830 [T/G] NM_001253912,NM_015173 TBC1D1,TBC1D1 EXON Missense_S735A,Missense_S641A exm394471 4 38055845 [A/C] NM_001253912,NM_015173 TBC1D1,TBC1D1 EXON Missense_L740I,Missense_L646I exm394482 4 38091655 [A/G] NM_001253912,NM_015173 TBC1D1,TBC1D1 EXON Missense_R812H,Missense_R718H exm394496 4 38104629 [A/G] NM_001253912,NM_015173 TBC1D1,TBC1D1 EXON Missense_R897H,Missense_R803H exm394510 4 38119768 [A/G] NM_001253912,NM_015173,NM_001253913,NM_001253914 TBC1D1,TBC1D1,TBC1D1,TBC1D1 EXON Silent,Missense_M973V,Missense_M70V,Missense_M70V exm394512 4 38119798 [A/G] NM_001253912,NM_015173,NM_001253913,NM_001253914 TBC1D1,TBC1D1,TBC1D1,TBC1D1 EXON Silent,Missense_V983I,Missense_V80I,Missense_V80I exm394516 4 38126619 [A/C] NM_001253912,NM_015173,NM_001253913,NM_001253914,NM_001253915 TBC1D1,TBC1D1,TBC1D1,TBC1D1,TBC1D1 EXON Silent,Missense_K1000T,Missense_K97T,Missense_K97T,Missense_K12T exm394527 4 38138759 [A/G] NM_001253912,NM_015173,NM_001253913,NM_001253914,NM_001253915 TBC1D1,TBC1D1,TBC1D1,TBC1D1,TBC1D1 EXON Missense_A1095T,Missense_A1104T,Missense_A201T,Missense_A201T,Missense_A116T exm394531 4 38138856 [A/G] NM_001253912,NM_015173,NM_001253913,NM_001253914,NM_001253915 TBC1D1,TBC1D1,TBC1D1,TBC1D1,TBC1D1 EXON Missense_R1127Q,Missense_R1136Q,Missense_R233Q,Missense_R233Q,Missense_R148Q exm394532 4 38138874 [T/C] NM_001253912,NM_015173,NM_001253913,NM_001253914,NM_001253915 TBC1D1,TBC1D1,TBC1D1,TBC1D1,TBC1D1 EXON Missense_T1133M,Missense_T1142M,Missense_T239M,Missense_T239M,Missense_T154M exm394540 4 38138951 [A/G] NM_001253912,NM_015173,NM_001253913,NM_001253914,NM_001253915 TBC1D1,TBC1D1,TBC1D1,TBC1D1,TBC1D1 EXON Missense_D1159N,Missense_D1168N,Missense_D265N,Missense_D265N,Missense_D180N exm2269742 4 38219277 [T/C] exm-rs11725412 4 38277754 [A/G] exm2073665 4 38690488 [A/G] NM_016531 KLF3 EXON Missense_V114M exm394574 4 38690647 [A/G] NM_016531 KLF3 EXON Missense_V167I exm394577 4 38690677 [T/A] NM_016531 KLF3 EXON Missense_S177C exm394579 4 38691418 [T/C] NM_016531 KLF3 EXON Missense_P205S exm394585 4 38696369 [A/C] NM_016531 KLF3 EXON Missense_N233T exm2269743 4 38769408 [T/C] exm394601 4 38774816 [T/C] NM_001017388,NM_001195106,NM_001195108,NM_030956,NM_001195107 TLR10,TLR10,TLR10,TLR10,TLR10 EXON Missense_R799Q,Missense_R799Q,Missense_R785Q,Missense_R799Q,Missense_R799Q exm394604 4 38774877 [T/C] NM_001017388,NM_001195106,NM_001195108,NM_030956,NM_001195107 TLR10,TLR10,TLR10,TLR10,TLR10 EXON Missense_V779I,Missense_V779I,Missense_V765I,Missense_V779I,Missense_V779I exm394605 4 38774889 [T/C] NM_001017388,NM_001195106,NM_001195108,NM_030956,NM_001195107 TLR10,TLR10,TLR10,TLR10,TLR10 EXON Missense_I775V,Missense_I775V,Missense_I761V,Missense_I775V,Missense_I775V exm394606 4 38774898 [A/G] NM_001017388,NM_001195106,NM_001195108,NM_030956,NM_001195107 TLR10,TLR10,TLR10,TLR10,TLR10 EXON Nonsense_R772X,Nonsense_R772X,Nonsense_R758X,Nonsense_R772X,Nonsense_R772X exm394608 4 38774928 [A/G] NM_001017388,NM_001195106,NM_001195108,NM_030956,NM_001195107 TLR10,TLR10,TLR10,TLR10,TLR10 EXON Missense_R762C,Missense_R762C,Missense_R748C,Missense_R762C,Missense_R762C exm394610 4 38774957 [T/C] NM_001017388,NM_001195106,NM_001195108,NM_030956,NM_001195107 TLR10,TLR10,TLR10,TLR10,TLR10 EXON Missense_K752R,Missense_K752R,Missense_K738R,Missense_K752R,Missense_K752R exm394618 4 38775124 [A/C] NM_001017388,NM_001195106,NM_001195108,NM_030956,NM_001195107 TLR10,TLR10,TLR10,TLR10,TLR10 EXON Missense_L696F,Missense_L696F,Missense_L682F,Missense_L696F,Missense_L696F exm394633 4 38775639 [A/G] NM_001017388,NM_001195106,NM_001195108,NM_030956,NM_001195107 TLR10,TLR10,TLR10,TLR10,TLR10 EXON Missense_R525W,Missense_R525W,Missense_R511W,Missense_R525W,Missense_R525W exm2073685 4 38775663 [C/G] NM_001017388,NM_001195106,NM_001195108,NM_030956,NM_001195107 TLR10,TLR10,TLR10,TLR10,TLR10 EXON Missense_L517V,Missense_L517V,Missense_L503V,Missense_L517V,Missense_L517V exm394641 4 38775747 [T/C] NM_001017388,NM_001195106,NM_001195108,NM_030956,NM_001195107 TLR10,TLR10,TLR10,TLR10,TLR10 EXON Missense_R489G,Missense_R489G,Missense_R475G,Missense_R489G,Missense_R489G exm394642 4 38775794 [A/G] NM_001017388,NM_001195106,NM_001195108,NM_030956,NM_001195107 TLR10,TLR10,TLR10,TLR10,TLR10 EXON Missense_I473T,Missense_I473T,Missense_I459T,Missense_I473T,Missense_I473T exm394646 4 38775900 [A/G] NM_001017388,NM_001195106,NM_001195108,NM_030956,NM_001195107 TLR10,TLR10,TLR10,TLR10,TLR10 EXON Missense_F438L,Missense_F438L,Missense_F424L,Missense_F438L,Missense_F438L exm394650 4 38775922 [T/G] NM_001017388,NM_001195106,NM_001195108,NM_030956,NM_001195107 TLR10,TLR10,TLR10,TLR10,TLR10 EXON Nonsense_Y430X,Nonsense_Y430X,Nonsense_Y416X,Nonsense_Y430X,Nonsense_Y430X exm394651 4 38775929 [A/G] NM_001017388,NM_001195106,NM_001195108,NM_030956,NM_001195107 TLR10,TLR10,TLR10,TLR10,TLR10 EXON Missense_L428P,Missense_L428P,Missense_L414P,Missense_L428P,Missense_L428P exm394653 4 38776070 [T/C] NM_001017388,NM_001195106,NM_001195108,NM_030956,NM_001195107 TLR10,TLR10,TLR10,TLR10,TLR10 EXON Missense_G381D,Missense_G381D,Missense_G367D,Missense_G381D,Missense_G381D exm394655 4 38776104 [A/G] NM_001017388,NM_001195106,NM_001195108,NM_030956,NM_001195107 TLR10,TLR10,TLR10,TLR10,TLR10 EXON Nonsense_Q370X,Nonsense_Q370X,Nonsense_Q356X,Nonsense_Q370X,Nonsense_Q370X exm394656 4 38776107 [T/G] NM_001017388,NM_001195106,NM_001195108,NM_030956,NM_001195107 TLR10,TLR10,TLR10,TLR10,TLR10 EXON Missense_I369L,Missense_I369L,Missense_I355L,Missense_I369L,Missense_I369L exm394661 4 38776169 [A/G] NM_001017388,NM_001195106,NM_001195108,NM_030956,NM_001195107 TLR10,TLR10,TLR10,TLR10,TLR10 EXON Missense_T348M,Missense_T348M,Missense_T334M,Missense_T348M,Missense_T348M exm394665 4 38776235 [A/G] NM_001017388,NM_001195106,NM_001195108,NM_030956,NM_001195107 TLR10,TLR10,TLR10,TLR10,TLR10 EXON Missense_M326T,Missense_M326T,Missense_M312T,Missense_M326T,Missense_M326T exm394668 4 38776320 [T/C] NM_001017388,NM_001195106,NM_001195108,NM_030956,NM_001195107 TLR10,TLR10,TLR10,TLR10,TLR10 EXON Missense_V298I,Missense_V298I,Missense_V284I,Missense_V298I,Missense_V298I exm394669 4 38776337 [T/A] NM_001017388,NM_001195106,NM_001195108,NM_030956,NM_001195107 TLR10,TLR10,TLR10,TLR10,TLR10 EXON Missense_F292Y,Missense_F292Y,Missense_F278Y,Missense_F292Y,Missense_F292Y exm394670 4 38776355 [T/C] NM_001017388,NM_001195106,NM_001195108,NM_030956,NM_001195107 TLR10,TLR10,TLR10,TLR10,TLR10 EXON Missense_Y286C,Missense_Y286C,Missense_Y272C,Missense_Y286C,Missense_Y286C exm394671 4 38776389 [A/G] NM_001017388,NM_001195106,NM_001195108,NM_030956,NM_001195107 TLR10,TLR10,TLR10,TLR10,TLR10 EXON Nonsense_Q275X,Nonsense_Q275X,Nonsense_Q261X,Nonsense_Q275X,Nonsense_Q275X exm394672 4 38776431 [C/G] NM_001017388,NM_001195106,NM_001195108,NM_030956,NM_001195107 TLR10,TLR10,TLR10,TLR10,TLR10 EXON Missense_L261V,Missense_L261V,Missense_L247V,Missense_L261V,Missense_L261V exm394674 4 38776438 [T/G] NM_001017388,NM_001195106,NM_001195108,NM_030956,NM_001195107 TLR10,TLR10,TLR10,TLR10,TLR10 EXON Missense_D258E,Missense_D258E,Missense_D244E,Missense_D258E,Missense_D258E exm394678 4 38776491 [T/G] NM_001017388,NM_001195106,NM_001195108,NM_030956,NM_001195107 TLR10,TLR10,TLR10,TLR10,TLR10 EXON Missense_N241H,Missense_N241H,Missense_N227H,Missense_N241H,Missense_N241H exm394679 4 38776508 [T/C] NM_001017388,NM_001195106,NM_001195108,NM_030956,NM_001195107 TLR10,TLR10,TLR10,TLR10,TLR10 EXON Missense_R235Q,Missense_R235Q,Missense_R221Q,Missense_R235Q,Missense_R235Q exm394687 4 38776712 [A/G] NM_001017388,NM_001195106,NM_001195108,NM_030956,NM_001195107 TLR10,TLR10,TLR10,TLR10,TLR10 EXON Missense_L167P,Missense_L167P,Missense_L153P,Missense_L167P,Missense_L167P exm394688 4 38776725 [A/C] NM_001017388,NM_001195106,NM_001195108,NM_030956,NM_001195107 TLR10,TLR10,TLR10,TLR10,TLR10 EXON Missense_A163S,Missense_A163S,Missense_A149S,Missense_A163S,Missense_A163S exm394689 4 38776788 [A/G] NM_001017388,NM_001195106,NM_001195108,NM_030956,NM_001195107 TLR10,TLR10,TLR10,TLR10,TLR10 EXON Missense_S142P,Missense_S142P,Missense_S128P,Missense_S142P,Missense_S142P exm394692 4 38776832 [T/C] NM_001017388,NM_001195106,NM_001195108,NM_030956,NM_001195107 TLR10,TLR10,TLR10,TLR10,TLR10 EXON Missense_N127S,Missense_N127S,Missense_N113S,Missense_N127S,Missense_N127S exm394698 4 38776925 [T/C] NM_001017388,NM_001195106,NM_001195108,NM_030956,NM_001195107 TLR10,TLR10,TLR10,TLR10,TLR10 EXON Missense_K96R,Missense_K96R,Missense_K82R,Missense_K96R,Missense_K96R exm394701 4 38777037 [T/G] NM_001017388,NM_001195106,NM_001195108,NM_030956,NM_001195107 TLR10,TLR10,TLR10,TLR10,TLR10 EXON Missense_L59I,Missense_L59I,Missense_L45I,Missense_L59I,Missense_L59I exm394719 4 38798235 [A/G] NM_003263 TLR1 EXON Missense_P740S exm394723 4 38798294 [T/G] NM_003263 TLR1 EXON Missense_H720P exm394735 4 38798501 [A/G] NM_003263 TLR1 EXON Missense_V651A exm394739 4 38798561 [A/C] NM_003263 TLR1 EXON Missense_L631R exm394774 4 38799283 [T/C] NM_003263 TLR1 EXON Missense_I390M exm2276860 4 38799297 [A/C] NM_003263 TLR1 EXON Nonsense_E386X exm394777 4 38799315 [A/G] NM_003263 TLR1 EXON Nonsense_Q380X exm394778 4 38799342 [A/G] NM_003263 TLR1 EXON Missense_L371F exm394779 4 38799399 [T/G] NM_003263 TLR1 EXON Missense_H352N exm394781 4 38799409 [T/G] NM_003263 TLR1 EXON Missense_S348R exm394784 4 38799444 [A/G] NM_003263 TLR1 EXON Missense_R337C exm394785 4 38799449 [C/G] NM_003263 TLR1 EXON Missense_G335A exm394792 4 38799509 [A/G] NM_003263 TLR1 EXON Missense_P315L exm394795 4 38799560 [A/G] NM_003263 TLR1 EXON Missense_S298F exm394796 4 38799612 [T/C] NM_003263 TLR1 EXON Missense_V281M exm394801 4 38799710 [T/C] NM_003263 TLR1 EXON Missense_N248S exm394804 4 38799774 [A/C] NM_003263 TLR1 EXON Missense_D227Y exm394805 4 38799833 [T/G] NM_003263 TLR1 EXON Missense_D207A exm394811 4 38799957 [A/T] NM_003263 TLR1 EXON Nonsense_K166X exm394813 4 38800022 [A/G] NM_003263 TLR1 EXON Missense_L144P exm394816 4 38800089 [A/C] NM_003263 TLR1 EXON Missense_S122A exm394817 4 38800101 [A/G] NM_003263 TLR1 EXON Missense_H118Y exm394819 4 38800131 [A/T] NM_003263 TLR1 EXON Missense_I108F exm394822 4 38800214 [G/C] NM_003263 TLR1 EXON Missense_R80T exm394824 4 38800282 [T/C] NM_003263 TLR1 EXON Missense_I57M exm394827 4 38800323 [A/G] NM_003263 TLR1 EXON Missense_S44P exm394837 4 38828757 [T/C] NM_006068 TLR6 EXON Missense_A780T exm394838 4 38828766 [T/C] NM_006068 TLR6 EXON Missense_I777V exm394839 4 38828768 [T/C] NM_006068 TLR6 EXON Missense_N776S exm394841 4 38828823 [A/G] NM_006068 TLR6 EXON Missense_R758W exm394842 4 38828828 [A/G] NM_006068 TLR6 EXON Missense_T756M exm394853 4 38829111 [G/C] NM_006068 TLR6 EXON Missense_P662A exm394879 4 38829722 [T/C] NM_006068 TLR6 EXON Missense_H458R exm394881 4 38829815 [A/G] NM_006068 TLR6 EXON Missense_V427A exm394882 4 38829816 [T/C] NM_006068 TLR6 EXON Missense_V427I exm394886 4 38829899 [A/G] NM_006068 TLR6 EXON Missense_T399M exm394894 4 38830116 [T/C] NM_006068 TLR6 EXON Missense_V327M exm394895 4 38830130 [A/G] NM_006068 TLR6 EXON Missense_T322I exm394896 4 38830157 [A/G] NM_006068 TLR6 EXON Missense_T313M exm394905 4 38830331 [A/G] NM_006068 TLR6 EXON Missense_T255I exm394909 4 38830355 [T/C] NM_006068 TLR6 EXON Missense_R247K exm394919 4 38830514 [A/G] NM_006068 TLR6 EXON Missense_L194P exm394924 4 38830629 [T/C] NM_006068 TLR6 EXON Missense_M156V exm394926 4 38830703 [T/C] NM_006068 TLR6 EXON Missense_N131S exm394927 4 38830736 [A/G] NM_006068 TLR6 EXON Missense_I120T exm394931 4 38830902 [T/C] NM_006068 TLR6 EXON Missense_A65T exm2240970 4 38830919 [A/G] NM_006068 TLR6 EXON Missense_M59T exm394936 4 38831007 [T/C] NM_006068 TLR6 EXON Missense_D30N exm394946 4 38879818 [T/C] NM_138389,NR_033290 FAM114A1,FAM114A1 EXON Missense_S40L,Silent exm394950 4 38879895 [A/G] NM_138389,NR_033290 FAM114A1,FAM114A1 EXON Missense_I66V,Silent exm394953 4 38879949 [A/G] NM_138389,NR_033290 FAM114A1,FAM114A1 EXON Missense_G84R,Silent exm394955 4 38879974 [T/C] NM_138389,NR_033290 FAM114A1,FAM114A1 EXON Missense_A92V,Silent exm394960 4 38880036 [T/C] NM_138389,NR_033290 FAM114A1,FAM114A1 EXON Nonsense_Q113X,Silent exm394963 4 38880046 [T/C] NM_138389,NR_033290 FAM114A1,FAM114A1 EXON Missense_L116P,Silent exm2073771 4 38907236 [C/G] NM_138389,NR_033290 FAM114A1,FAM114A1 EXON Missense_T177S,Silent exm394976 4 38907399 [A/G] NM_138389,NR_033290 FAM114A1,FAM114A1 EXON Missense_G192S,Silent exm394977 4 38907405 [A/G] NM_138389,NR_033290 FAM114A1,FAM114A1 EXON Missense_A194T,Silent exm2256598 4 38907407 [A/C] NM_138389,NR_033290 FAM114A1,FAM114A1 EXON Synonymous_A194A,Silent exm394979 4 38907427 [T/C] NM_138389,NR_033290 FAM114A1,FAM114A1 EXON Missense_P201L,Silent exm394980 4 38907441 [T/C] NM_138389,NR_033290 FAM114A1,FAM114A1 EXON Missense_R206W,Silent exm394983 4 38910217 [A/G] NM_138389,NR_033290 FAM114A1,FAM114A1 EXON Missense_K221R,Silent exm2073778 4 38910316 [T/C] NM_138389,NR_033290 FAM114A1,FAM114A1 EXON Missense_T254M,Silent exm394998 4 38924391 [A/G] NM_138389,NR_033290 FAM114A1,FAM114A1 EXON Missense_V316I,Silent exm394999 4 38924409 [T/C] NM_138389,NR_033290 FAM114A1,FAM114A1 EXON Missense_S322P,Silent exm395001 4 38924485 [T/C] NM_138389,NR_033290 FAM114A1,FAM114A1 EXON Missense_L347S,Silent exm395005 4 38930893 [A/G] NM_138389,NR_033290 FAM114A1,FAM114A1 EXON Missense_R367H,Silent exm2256599 4 38930921 [A/G] NM_138389,NR_033290 FAM114A1,FAM114A1 EXON Synonymous_L376L,Silent exm395009 4 38933102 [A/G] NM_138389,NR_033290 FAM114A1,FAM114A1 EXON Missense_E398K,Silent exm395010 4 38933104 [T/G] NM_138389,NR_033290 FAM114A1,FAM114A1 EXON Missense_E398D,Silent exm395011 4 38933114 [A/G] NM_138389,NR_033290 FAM114A1,FAM114A1 EXON Missense_V402M,Silent exm395014 4 38933859 [A/G] NM_138389,NR_033290 FAM114A1,FAM114A1 EXON Missense_V443I,Silent exm395015 4 38933869 [T/C] NM_138389,NR_033290 FAM114A1,FAM114A1 EXON Missense_S446L,Silent exm395019 4 38933902 [A/G] NM_138389,NR_033290 FAM114A1,FAM114A1 EXON Missense_R457H,Silent exm2240974 4 38990575 [A/G] NM_024943 TMEM156 EXON Missense_M212T exm395063 4 38995401 [T/A] NM_024943 TMEM156 EXON Missense_N192K exm395064 4 38995413 [T/C] NM_024943 TMEM156 EXON Missense_M188I exm395074 4 39000305 [A/G] NM_024943 TMEM156 EXON Missense_S105P exm395076 4 39000322 [A/G] NM_024943 TMEM156 EXON Missense_S99L exm395079 4 39000475 [T/C] NM_024943 TMEM156 EXON Missense_Y48C exm395080 4 39000476 [A/T] NM_024943 TMEM156 EXON Missense_Y48N exm395083 4 39033851 [A/G] NM_024943 TMEM156 EXON Missense_P28L exm395092 4 39064162 [A/C] NM_001171654,NM_001007075,NM_199039,NM_015990 KLHL5,KLHL5,KLHL5,KLHL5 EXON Silent,Silent,Missense_I10L,Missense_I10L exm395095 4 39064240 [A/C] NM_001171654,NM_001007075,NM_199039,NM_015990 KLHL5,KLHL5,KLHL5,KLHL5 EXON Silent,Silent,Missense_R36S,Missense_R36S exm395096 4 39064241 [A/G] NM_001171654,NM_001007075,NM_199039,NM_015990 KLHL5,KLHL5,KLHL5,KLHL5 EXON Silent,Silent,Missense_R36H,Missense_R36H exm395103 4 39064372 [A/G] NM_001171654,NM_001007075,NM_199039,NM_015990 KLHL5,KLHL5,KLHL5,KLHL5 EXON Silent,Missense_S34G,Missense_S80G,Missense_S80G exm395112 4 39064647 [T/A] NM_001171654,NM_001007075,NM_199039,NM_015990 KLHL5,KLHL5,KLHL5,KLHL5 EXON Silent,Missense_S125R,Missense_S171R,Missense_S171R exm395121 4 39077757 [T/C] NM_001171654,NM_001007075,NM_199039,NM_015990 KLHL5,KLHL5,KLHL5,KLHL5 EXON Missense_P45S,Missense_P186S,Silent,Missense_P232S exm395127 4 39083586 [A/G] NM_001171654,NM_001007075,NM_199039,NM_015990 KLHL5,KLHL5,KLHL5,KLHL5 EXON Missense_R95H,Missense_R236H,Missense_R221H,Missense_R282H exm395129 4 39083634 [A/G] NM_001171654,NM_001007075,NM_199039,NM_015990 KLHL5,KLHL5,KLHL5,KLHL5 EXON Missense_C111Y,Missense_C252Y,Missense_C237Y,Missense_C298Y exm395143 4 39088327 [A/C] NM_001171654,NM_001007075,NM_199039,NM_015990 KLHL5,KLHL5,KLHL5,KLHL5 EXON Missense_L224I,Missense_L365I,Missense_L350I,Missense_L411I exm395145 4 39098321 [A/G] NM_001171654,NM_001007075,NM_199039,NM_015990 KLHL5,KLHL5,KLHL5,KLHL5 EXON Missense_D234N,Missense_D375N,Missense_D360N,Missense_D421N exm395174 4 39116798 [T/A] NM_001171654,NM_001007075,NM_199039,NM_015990 KLHL5,KLHL5,KLHL5,KLHL5 EXON Missense_M500L,Missense_M641L,Missense_M626L,Missense_M687L exm2265690 4 39135564 [A/G] exm395206 4 39201181 [A/G] NM_025132 WDR19 EXON Missense_V164I exm395222 4 39216221 [T/C] NM_025132 WDR19 EXON Synonymous_C297C exm395223 4 39216240 [A/G] NM_025132 WDR19 EXON Missense_V304I exm395224 4 39216259 [A/G] NM_025132 WDR19 EXON Missense_Y310C exm395228 4 39217529 [G/C] NM_025132 WDR19 EXON Missense_H344D exm395231 4 39217563 [T/A] NM_025132 WDR19 EXON Missense_D355V exm395242 4 39219646 [A/G] NM_025132 WDR19 EXON Missense_R467Q exm395251 4 39226631 [C/G] NM_025132 WDR19 EXON Missense_S536T exm395261 4 39230243 [A/G] NM_025132 WDR19 EXON Missense_S639G exm395262 4 39233418 [T/C] NM_025132 WDR19 EXON Missense_F662L exm395269 4 39233530 [A/G] NM_025132 WDR19 EXON Missense_R699Q exm395274 4 39233878 [A/G] NM_025132 WDR19 EXON Missense_I747V exm395280 4 39241898 [A/G] NM_025132 WDR19 EXON Missense_G789S exm395282 4 39241919 [A/G] NM_025132 WDR19 EXON Missense_A796T exm2240979 4 39245910 [A/G] NM_025132 WDR19 EXON Missense_I822V exm395290 4 39246135 [A/G] NM_025132 WDR19 EXON Missense_D870N exm395293 4 39247014 [T/C] NM_025132 WDR19 EXON Missense_H891Y exm395294 4 39247045 [A/G] NM_025132 WDR19 EXON Missense_Y901C exm395296 4 39247063 [T/C] NM_025132 WDR19 EXON Missense_A907V exm395298 4 39254828 [A/C] NM_025132 WDR19 EXON Missense_Y931S exm395303 4 39257474 [A/G] NM_025132 WDR19 EXON Missense_E1003G exm395304 4 39257482 [A/G] NM_025132 WDR19 EXON Missense_T1006A exm395310 4 39267749 [A/G] NM_025132 WDR19 EXON Missense_G1084S exm395311 4 39269621 [A/C] NM_025132 WDR19 EXON Missense_K1090Q exm395314 4 39271653 [A/G] NM_025132 WDR19 EXON Missense_Q1139R exm2256601 4 39271672 [T/C] NM_025132 WDR19 EXON Synonymous_S1145S exm395318 4 39274649 [A/G] NM_025132 WDR19 EXON Missense_R1178Q exm395322 4 39276529 [T/C] NM_025132 WDR19 EXON Missense_R1223C exm395331 4 39279785 [T/G] NM_025132 WDR19 EXON Missense_C1292F exm395339 4 39290391 [A/G] NM_001204747,NM_002913 RFC1,RFC1 EXON Missense_S1146L,Missense_S1145L exm395352 4 39293374 [T/C] NM_001204747,NM_002913 RFC1,RFC1 EXON Missense_Q1019R,Missense_Q1018R exm395362 4 39297328 [T/G] NM_001204747,NM_002913 RFC1,RFC1 EXON Missense_Q955K,Missense_Q954K exm395398 4 39306471 [C/G] NM_001204747,NM_002913 RFC1,RFC1 EXON Missense_E692D,Missense_E691D exm395405 4 39306530 [A/C] NM_001204747,NM_002913 RFC1,RFC1 EXON Missense_V673L,Missense_V672L exm395416 4 39308301 [T/C] NM_001204747,NM_002913 RFC1,RFC1 EXON Missense_G637S,Missense_G636S exm395420 4 39310257 [A/G] NM_001204747,NM_002913 RFC1,RFC1 EXON Synonymous_H628H,Synonymous_H628H exm395430 4 39310349 [T/C] NM_001204747,NM_002913 RFC1,RFC1 EXON Missense_I598V,Missense_I598V exm395431 4 39310364 [T/C] NM_001204747,NM_002913 RFC1,RFC1 EXON Missense_T593A,Missense_T593A exm395432 4 39310438 [T/C] NM_001204747,NM_002913 RFC1,RFC1 EXON Missense_K568R,Missense_K568R exm2073945 4 39310505 [T/C] NM_001204747,NM_002913 RFC1,RFC1 EXON Missense_T546A,Missense_T546A exm395443 4 39313166 [T/C] NM_001204747,NM_002913 RFC1,RFC1 EXON Missense_A463T,Missense_A463T exm395445 4 39314407 [T/C] NM_001204747,NM_002913 RFC1,RFC1 EXON Missense_M450V,Missense_M450V exm395448 4 39314478 [A/G] NM_001204747,NM_002913 RFC1,RFC1 EXON Missense_A426V,Missense_A426V exm395449 4 39314494 [T/C] NM_001204747,NM_002913 RFC1,RFC1 EXON Missense_I421V,Missense_I421V exm395454 4 39322017 [A/G] NM_001204747,NM_002913 RFC1,RFC1 EXON Missense_P361S,Missense_P361S exm395455 4 39322028 [G/C] NM_001204747,NM_002913 RFC1,RFC1 EXON Missense_T357S,Missense_T357S exm395457 4 39322061 [T/C] NM_001204747,NM_002913 RFC1,RFC1 EXON Missense_K346R,Missense_K346R exm395467 4 39322973 [T/C] NM_001204747,NM_002913 RFC1,RFC1 EXON Missense_G248R,Missense_G248R exm395468 4 39322975 [A/G] NM_001204747,NM_002913 RFC1,RFC1 EXON Missense_A247V,Missense_A247V exm395475 4 39328181 [A/T] NM_001204747,NM_002913 RFC1,RFC1 Silent,Silent exm395489 4 39343994 [T/C] NM_001204747,NM_002913 RFC1,RFC1 EXON Missense_Q101R,Missense_Q101R exm395498 4 39353047 [T/C] NM_001204747,NM_002913 RFC1,RFC1 EXON Missense_S18N,Missense_S18N exm395511 4 39408595 [A/C] NM_175737 KLB EXON Missense_S9Y exm395515 4 39408699 [T/C] NM_175737 KLB EXON Missense_L44F exm395518 4 39408735 [A/G] NM_175737 KLB EXON Missense_D56N exm395519 4 39408762 [C/G] NM_175737 KLB EXON Missense_P65A exm395525 4 39409062 [A/G] NM_175737 KLB EXON Missense_T165A exm395527 4 39409066 [T/C] NM_175737 KLB EXON Missense_V166A exm395541 4 39435929 [T/C] NM_175737 KLB EXON Missense_R309W exm395547 4 39436019 [A/G] NM_175737 KLB EXON Missense_D339N exm395558 4 39439368 [A/G] NM_175737 KLB EXON Missense_R453Q exm395563 4 39439520 [C/G] NM_175737 KLB EXON Missense_R504G exm395565 4 39439527 [A/G] NM_175737 KLB EXON Missense_N506S exm2240983 4 39448171 [A/G] NM_175737 KLB EXON Missense_T609A exm395574 4 39448187 [T/C] NM_175737 KLB EXON Missense_A614V exm395591 4 39448586 [T/C] NM_175737 KLB EXON Missense_A747V exm395598 4 39448789 [A/G] NM_175737 KLB EXON Missense_K815E exm395602 4 39448873 [T/C] NM_175737 KLB EXON Missense_S843P exm395613 4 39449062 [T/C] NM_175737 KLB EXON Missense_Y906H exm395622 4 39450118 [A/G] NM_175737 KLB EXON Missense_T983A exm395624 4 39450196 [A/G] NM_175737 KLB EXON Missense_V1009I exm395628 4 39450229 [A/C] NM_175737 KLB EXON Missense_Q1020K exm395632 4 39450295 [A/G] NM_175737 KLB EXON Missense_V1042I exm2256602 4 39450305 [A/G] NM_175737 KLB EXON Synonymous_X1045X exm395674 4 39462421 [A/C] NM_194451,NM_006859 LIAS,LIAS EXON Missense_R19S,Missense_R19S exm395682 4 39462537 [T/C] NM_194451,NM_006859 LIAS,LIAS EXON Missense_T58I,Missense_T58I exm395692 4 39465211 [A/C] NM_194451,NM_006859 LIAS,LIAS EXON Missense_T127P,Missense_T127P exm2074048 4 39471708 [A/G] NM_194451,NM_006859 LIAS,LIAS EXON Synonymous_Q269Q,Synonymous_Q269Q exm395710 4 39472916 [A/G] NM_194451,NM_006859 LIAS,LIAS EXON Missense_R315H,Missense_R315H exm2269914 4 39500514 [T/C] NM_001184700,NM_003359,NM_001184701 UGDH,UGDH,UGDH EXON Silent,Silent,Silent exm395720 4 39501825 [A/G] NM_001184700,NM_003359,NM_001184701 UGDH,UGDH,UGDH EXON Missense_P408S,Missense_P475S,Missense_P378S exm395735 4 39510200 [A/G] NM_001184700,NM_003359,NM_001184701 UGDH,UGDH,UGDH EXON Missense_R231C,Missense_R298C,Missense_R201C exm395751 4 39512325 [A/G] NM_001184700,NM_003359,NM_001184701 UGDH,UGDH,UGDH EXON Silent,Missense_R141C,Missense_R44C exm395754 4 39512402 [T/C] NM_001184700,NM_003359,NM_001184701 UGDH,UGDH,UGDH EXON Silent,Missense_R115H,Missense_R18H exm395755 4 39512403 [A/G] NM_001184700,NM_003359,NM_001184701 UGDH,UGDH,UGDH EXON Silent,Missense_R115C,Missense_R18C exm395757 4 39515714 [T/C] NM_001184700,NM_003359,NM_001184701 UGDH,UGDH,UGDH EXON Missense_V85I,Missense_V85I,Silent exm2256604 4 39515754 [A/G] NM_001184700,NM_003359,NM_001184701 UGDH,UGDH,UGDH EXON Synonymous_F71F,Synonymous_F71F,Silent exm395763 4 39515774 [A/G] NM_001184700,NM_003359,NM_001184701 UGDH,UGDH,UGDH EXON Nonsense_R65X,Nonsense_R65X,Silent exm395769 4 39523035 [A/G] NM_001184700,NM_003359,NM_001184701 UGDH,UGDH,UGDH EXON Missense_T33M,Missense_T33M,Silent exm395771 4 39558053 [A/G] NR_047679,NM_174921 UGDH-AS1,SMIM14 EXON Silent,Missense_H88Y exm395772 4 39558085 [T/C] NR_047679,NM_174921 UGDH-AS1,SMIM14 EXON Silent,Missense_G77E exm395779 4 39606716 [T/C] NM_174921 SMIM14 EXON Missense_H17R exm395784 4 39739070 [A/G] NM_005339,NM_001111113,NM_001111112 UBE2K,UBE2K,UBE2K EXON Missense_V32I,Silent,Missense_V32I exm2265691 4 39793856 [A/G] exm395799 4 39839585 [T/C] NM_001100399 PDS5A EXON Missense_V1301M exm395803 4 39839696 [T/C] NM_001100399 PDS5A EXON Missense_A1264T exm395804 4 39839707 [A/G] NM_001100399 PDS5A EXON Missense_S1260L exm395815 4 39850497 [T/C] NM_001100399 PDS5A EXON Missense_M1105V exm395816 4 39850529 [T/C] NM_001100399 PDS5A EXON Missense_N1094S exm395842 4 39881453 [A/G] NM_001100399 PDS5A EXON Synonymous_S629S exm2274004 4 39900070 [T/C] NM_001100399,NM_001100400 PDS5A,PDS5A EXON Missense_R570Q,Missense_R570Q exm395879 4 39978060 [T/C] NM_001100399,NM_001100400 PDS5A,PDS5A EXON Synonymous_K46K,Synonymous_K46K exm395882 4 39978112 [A/C] NM_001100399,NM_001100400 PDS5A,PDS5A EXON Missense_V29G,Missense_V29G exm395894 4 40103767 [T/G] NM_018177 N4BP2 EXON Missense_S101I exm395896 4 40103817 [A/G] NM_018177 N4BP2 EXON Missense_E118K exm395903 4 40103940 [C/G] NM_018177 N4BP2 EXON Missense_D159H exm395904 4 40103986 [A/G] NM_018177 N4BP2 EXON Missense_N174S exm395909 4 40104051 [A/G] NM_018177 N4BP2 EXON Missense_M196V exm395912 4 40104096 [A/G] NM_018177 N4BP2 EXON Missense_S211G exm395915 4 40104288 [A/G] NM_018177 N4BP2 EXON Missense_V275I exm395916 4 40104294 [G/C] NM_018177 N4BP2 EXON Missense_A277P exm2074159 4 40104609 [T/C] NM_018177 N4BP2 EXON Missense_P382S exm395930 4 40104646 [A/C] NM_018177 N4BP2 EXON Missense_N394T exm395933 4 40104705 [A/G] NM_018177 N4BP2 EXON Missense_K414E exm395936 4 40104739 [A/C] NM_018177 N4BP2 EXON Missense_T425N exm395950 4 40119602 [A/G] NM_018177 N4BP2 EXON Missense_R593H exm395953 4 40119617 [T/C] NM_018177 N4BP2 EXON Missense_A598V exm395955 4 40121562 [A/G] NM_018177 N4BP2 EXON Missense_D611N exm395959 4 40121596 [T/C] NM_018177 N4BP2 EXON Missense_I622T exm395961 4 40121635 [T/A] NM_018177 N4BP2 EXON Missense_E635V exm395962 4 40121710 [A/G] NM_018177 N4BP2 EXON Missense_K660R exm395968 4 40121939 [C/G] NM_018177 N4BP2 EXON Missense_D736E exm395974 4 40122168 [A/G] NM_018177 N4BP2 EXON Missense_V813I exm395980 4 40122253 [A/G] NM_018177 N4BP2 EXON Missense_R841Q exm395982 4 40122313 [A/T] NM_018177 N4BP2 EXON Missense_E861V exm395985 4 40122370 [A/G] NM_018177 N4BP2 EXON Missense_N880S exm395986 4 40122377 [A/G] NM_018177 N4BP2 EXON Missense_M882I exm395987 4 40122453 [T/C] NM_018177 N4BP2 EXON Missense_P908S exm395988 4 40122511 [A/C] NM_018177 N4BP2 EXON Missense_H927P exm395992 4 40122706 [A/C] NM_018177 N4BP2 EXON Missense_P992Q exm395994 4 40122771 [T/C] NM_018177 N4BP2 EXON Missense_C1014R exm396000 4 40122958 [T/C] NM_018177 N4BP2 EXON Missense_T1076M exm396011 4 40123284 [A/G] NM_018177 N4BP2 EXON Missense_I1185V exm396017 4 40123399 [T/G] NM_018177 N4BP2 EXON Missense_S1223I exm396019 4 40123462 [A/G] NM_018177 N4BP2 EXON Missense_Y1244C exm2275737 4 40123578 [G/C] NM_018177 N4BP2 EXON Missense_H1283D exm396030 4 40123790 [T/G] NM_018177 N4BP2 EXON Missense_S1353R exm396036 4 40123928 [A/G] NM_018177 N4BP2 EXON Synonymous_S1399S exm396044 4 40125783 [T/C] NM_018177 N4BP2 EXON Nonsense_R1430X exm2074190 4 40127852 [A/G] NM_018177 N4BP2 EXON Missense_M1477V exm2256608 4 40127926 [A/T] NM_018177 N4BP2 EXON Synonymous_I1501I exm396052 4 40127926 [A/T] NM_018177 N4BP2 EXON Synonymous_I1501I exm396055 4 40138676 [A/G] NM_018177 N4BP2 EXON Missense_T1587A exm396061 4 40144338 [T/G] NM_018177 N4BP2 EXON Missense_F1611V exm396067 4 40144429 [A/G] NM_018177 N4BP2 EXON Missense_K1641R exm396068 4 40144461 [A/G] NM_018177 N4BP2 EXON Missense_A1652T exm396071 4 40146415 [C/G] NM_018177 N4BP2 EXON Missense_T1713S exm396075 4 40154495 [A/G] NM_018177 N4BP2 EXON Missense_I1747V exm396087 4 40245208 [A/G] NM_004310 RHOH EXON Missense_I68V exm2275738 4 40245517 [A/G] NM_004310 RHOH EXON Missense_V171I exm396108 4 40337919 [A/G] NM_017581 CHRNA9 EXON Missense_R47H exm396120 4 40339303 [A/G] NM_017581 CHRNA9 EXON Missense_R96Q exm396128 4 40350945 [T/C] NM_017581 CHRNA9 EXON Missense_R138W exm396147 4 40351156 [A/T] NM_017581 CHRNA9 EXON Missense_M208K exm396164 4 40356031 [A/G] NM_017581 CHRNA9 EXON Missense_A312T exm396165 4 40356041 [T/C] NM_017581 CHRNA9 EXON Missense_A315V exm396168 4 40356053 [T/C] NM_017581 CHRNA9 EXON Missense_M319T exm396171 4 40356097 [T/C] NM_017581 CHRNA9 EXON Missense_P334S exm396178 4 40356209 [T/C] NM_017581 CHRNA9 EXON Missense_T371M exm396180 4 40356240 [C/G] NM_017581 CHRNA9 EXON Missense_N381K exm396181 4 40356263 [A/G] NM_017581 CHRNA9 EXON Missense_D389G exm396183 4 40356292 [T/C] NM_017581 CHRNA9 EXON Missense_R399C exm396188 4 40356391 [A/G] NM_017581 CHRNA9 EXON Missense_A432T exm396189 4 40356422 [A/G] NM_017581 CHRNA9 EXON Missense_N442S exm396190 4 40356452 [T/C] NM_017581 CHRNA9 EXON Missense_A452V exm396193 4 40356466 [T/C] NM_017581 CHRNA9 EXON Nonsense_R457X exm396195 4 40356530 [T/C] NM_017581 CHRNA9 EXON Missense_A478V exm396201 4 40428010 [T/C] NM_019027,NM_001098634 RBM47,RBM47 EXON Missense_M496V,Missense_M565V exm396209 4 40428091 [T/C] NM_019027,NM_001098634 RBM47,RBM47 EXON Missense_G469R,Missense_G538R exm396212 4 40428151 [T/C] NM_019027,NM_001098634 RBM47,RBM47 EXON Missense_I449V,Missense_I518V exm396213 4 40434684 [A/G] NM_019027,NM_001098634 RBM47,RBM47 EXON Missense_T440M,Missense_T509M exm396264 4 40440535 [A/G] NM_019027,NM_001098634 RBM47,RBM47 EXON Missense_R126C,Missense_R126C exm396266 4 40440552 [T/C] NM_019027,NM_001098634 RBM47,RBM47 EXON Missense_H120R,Missense_H120R exm396271 4 40440643 [T/C] NM_019027,NM_001098634 RBM47,RBM47 EXON Missense_V90M,Missense_V90M exm396275 4 40440783 [T/C] NM_019027,NM_001098634 RBM47,RBM47 EXON Missense_G43D,Missense_G43D exm2261713 4 40549098 [A/G] NM_001098634 RBM47 Silent exm2269744 4 40671548 [T/C] exm396285 4 40752736 [T/A] NM_024677 NSUN7 EXON Missense_E9V exm396291 4 40752876 [A/G] NM_024677 NSUN7 EXON Missense_G56S exm396296 4 40762452 [T/C] NM_024677 NSUN7 EXON Synonymous_Y100Y exm396303 4 40763282 [T/C] NM_024677 NSUN7 EXON Missense_I151T exm396304 4 40763307 [A/C] NM_024677 NSUN7 EXON Missense_N159K exm396312 4 40776821 [T/C] NM_024677 NSUN7 EXON Missense_Y227H exm396316 4 40776916 [A/C] NM_024677 NSUN7 EXON Missense_K258N exm396320 4 40778162 [T/G] NM_024677 NSUN7 EXON Missense_S308A exm396321 4 40778195 [T/G] NM_024677 NSUN7 EXON Missense_S319A exm2074259 4 40778256 [T/C] NM_024677 NSUN7 EXON Missense_F339S exm396327 4 40792706 [A/G] NM_024677 NSUN7 EXON Missense_R375H exm396329 4 40792757 [A/G] NM_024677 NSUN7 EXON Missense_H392R exm396331 4 40796492 [A/G] NM_024677 NSUN7 EXON Synonymous_K427K exm396334 4 40800878 [A/G] NM_024677 NSUN7 EXON Missense_A453T exm2074268 4 40810351 [T/A] NM_024677 NSUN7 EXON Missense_N518Y exm396335 4 40810367 [G/C] NM_024677 NSUN7 EXON Missense_R523P exm396340 4 40810489 [A/C] NM_024677 NSUN7 EXON Missense_M564L exm396345 4 40810663 [A/G] NM_024677 NSUN7 EXON Missense_T622A exm396347 4 40810690 [A/C] NM_024677 NSUN7 EXON Missense_Q631K exm396351 4 40810747 [A/G] NM_024677 NSUN7 EXON Missense_K650E exm396352 4 40810827 [C/G] NM_024677 NSUN7 EXON Nonsense_Y676X exm396353 4 40810856 [T/G] NM_024677 NSUN7 EXON Missense_V686G exm396360 4 40818170 [T/C] NM_001166052,NM_004307,NM_001166054,NM_001166051,NM_001166053,NM_173075,NM_001166050 APBB2,APBB2,APBB2,APBB2,APBB2,APBB2,APBB2 EXON Missense_R191Q,Missense_R740Q,Missense_R191Q,Missense_R191Q,Missense_R191Q,Missense_R717Q,Missense_R739Q exm396361 4 40818179 [T/C] NM_001166052,NM_004307,NM_001166054,NM_001166051,NM_001166053,NM_173075,NM_001166050 APBB2,APBB2,APBB2,APBB2,APBB2,APBB2,APBB2 EXON Missense_N188S,Missense_N737S,Missense_N188S,Missense_N188S,Missense_N188S,Missense_N714S,Missense_N736S exm396371 4 40823962 [A/G] NM_001166052,NM_004307,NM_001166054,NM_001166051,NM_001166053,NM_173075,NM_001166050 APBB2,APBB2,APBB2,APBB2,APBB2,APBB2,APBB2 EXON Missense_R131C,Missense_R680C,Missense_R131C,Missense_R131C,Missense_R131C,Missense_R657C,Missense_R679C exm2241001 4 40827939 [T/C] NM_001166052,NM_004307,NM_001166054,NM_001166051,NM_001166053,NM_173075,NM_001166050 APBB2,APBB2,APBB2,APBB2,APBB2,APBB2,APBB2 EXON Missense_Q45R,Missense_Q594R,Missense_Q45R,Missense_Q45R,Missense_Q45R,Missense_Q571R,Missense_Q593R exm396378 4 40827943 [T/C] NM_001166052,NM_004307,NM_001166054,NM_001166051,NM_001166053,NM_173075,NM_001166050 APBB2,APBB2,APBB2,APBB2,APBB2,APBB2,APBB2 EXON Missense_V44M,Missense_V593M,Missense_V44M,Missense_V44M,Missense_V44M,Missense_V570M,Missense_V592M exm396391 4 40892489 [T/A] NM_004307,NM_173075,NM_001166050 APBB2,APBB2,APBB2 EXON Missense_I474N,Missense_I452N,Missense_I473N exm2241002 4 40895370 [T/C] NM_004307,NM_173075,NM_001166050 APBB2,APBB2,APBB2 EXON Missense_G438D,Missense_G416D,Missense_G437D exm396401 4 40946884 [T/C] NM_004307,NM_173075,NM_001166050 APBB2,APBB2,APBB2 EXON Missense_E348K,Missense_E347K,Missense_E347K exm396408 4 40946971 [C/G] NM_004307,NM_173075,NM_001166050 APBB2,APBB2,APBB2 EXON Missense_E319Q,Missense_E318Q,Missense_E318Q exm396417 4 41015611 [A/G] NM_004307,NM_173075,NM_001166050 APBB2,APBB2,APBB2 EXON Missense_P275L,Missense_P275L,Missense_P275L exm396436 4 41015866 [T/G] NM_004307,NM_173075,NM_001166050 APBB2,APBB2,APBB2 EXON Missense_S190Y,Missense_S190Y,Missense_S190Y exm396438 4 41015884 [T/C] NM_004307,NM_173075,NM_001166050 APBB2,APBB2,APBB2 EXON Missense_G184E,Missense_G184E,Missense_G184E exm396439 4 41015899 [T/C] NM_004307,NM_173075,NM_001166050 APBB2,APBB2,APBB2 EXON Missense_R179Q,Missense_R179Q,Missense_R179Q exm396440 4 41015941 [T/G] NM_004307,NM_173075,NM_001166050 APBB2,APBB2,APBB2 EXON Missense_Y165S,Missense_Y165S,Missense_Y165S exm396441 4 41015942 [A/G] NM_004307,NM_173075,NM_001166050 APBB2,APBB2,APBB2 EXON Missense_Y165H,Missense_Y165H,Missense_Y165H exm396449 4 41016255 [T/G] NM_004307,NM_173075,NM_001166050 APBB2,APBB2,APBB2 EXON Missense_N60K,Missense_N60K,Missense_N60K exm2269745 4 41200522 [T/C] NM_004307,NM_173075,NM_001166050 APBB2,APBB2,APBB2 Silent,Silent,Silent exm396485 4 41263776 [A/C] NM_004181 UCHL1 EXON Missense_M124L exm396487 4 41263813 [A/G] NM_004181 UCHL1 EXON Missense_N136S exm396504 4 41362924 [A/G] NM_001112717,NM_001112718,NM_014988 LIMCH1,LIMCH1,LIMCH1 EXON Missense_A23T,Missense_A23T,Missense_A23T exm2265832 4 41554364 [A/G] NM_001112717,NM_001112718,NM_014988 LIMCH1,LIMCH1,LIMCH1 Silent,Silent,Silent exm2074331 4 41600957 [A/G] NM_001112717,NM_001112718,NM_014988 LIMCH1,LIMCH1,LIMCH1 EXON Synonymous_L86L,Synonymous_L86L,Synonymous_L86L exm396529 4 41615533 [A/C] NM_001112717,NM_001112718,NM_014988,NM_001112720,NM_001112719 LIMCH1,LIMCH1,LIMCH1,LIMCH1,LIMCH1 EXON Nonsense_Y179X,Nonsense_Y179X,Nonsense_Y179X,Nonsense_Y25X,Nonsense_Y25X exm396531 4 41615579 [T/C] NM_001112717,NM_001112718,NM_014988,NM_001112720,NM_001112719 LIMCH1,LIMCH1,LIMCH1,LIMCH1,LIMCH1 EXON Missense_R195C,Missense_R195C,Missense_R195C,Missense_R41C,Missense_R41C exm396533 4 41615585 [A/G] NM_001112717,NM_001112718,NM_014988,NM_001112720,NM_001112719 LIMCH1,LIMCH1,LIMCH1,LIMCH1,LIMCH1 EXON Missense_G197S,Missense_G197S,Missense_G197S,Missense_G43S,Missense_G43S exm2256611 4 41639516 [A/G] NM_001112717,NM_001112718,NM_014988,NM_001112720,NM_001112719 LIMCH1,LIMCH1,LIMCH1,LIMCH1,LIMCH1 Silent,Silent,Silent,Silent,Silent exm396572 4 41648248 [A/C] NM_001112717,NM_001112718,NM_014988,NM_001112720,NM_001112719 LIMCH1,LIMCH1,LIMCH1,LIMCH1,LIMCH1 EXON Missense_S403R,Missense_S403R,Missense_S403R,Missense_S237R,Missense_S249R exm396575 4 41648507 [A/G] NM_001112717,NM_001112718,NM_014988,NM_001112720,NM_001112719 LIMCH1,LIMCH1,LIMCH1,LIMCH1,LIMCH1 EXON Missense_R421Q,Missense_R421Q,Missense_R421Q,Missense_R255Q,Missense_R267Q exm396580 4 41648620 [T/C] NM_001112717,NM_001112718,NM_014988,NM_001112720,NM_001112719 LIMCH1,LIMCH1,LIMCH1,LIMCH1,LIMCH1 EXON Missense_R459C,Missense_R459C,Missense_R459C,Missense_R293C,Missense_R305C exm396585 4 41648767 [A/G] NM_001112717,NM_001112718,NM_014988,NM_001112720,NM_001112719 LIMCH1,LIMCH1,LIMCH1,LIMCH1,LIMCH1 EXON Missense_A508T,Missense_A508T,Missense_A508T,Missense_A342T,Missense_A354T exm396587 4 41648825 [T/C] NM_001112717,NM_001112718,NM_014988,NM_001112720,NM_001112719 LIMCH1,LIMCH1,LIMCH1,LIMCH1,LIMCH1 EXON Missense_T527I,Missense_T527I,Missense_T527I,Missense_T361I,Missense_T373I exm396594 4 41652414 [A/G] NM_001112717,NM_001112718,NM_014988,NM_001112720,NM_001112719 LIMCH1,LIMCH1,LIMCH1,LIMCH1,LIMCH1 EXON Missense_D557G,Missense_D557G,Missense_D557G,Missense_D391G,Missense_D403G exm396596 4 41652426 [G/C] NM_001112717,NM_001112718,NM_014988,NM_001112720,NM_001112719 LIMCH1,LIMCH1,LIMCH1,LIMCH1,LIMCH1 EXON Missense_S561T,Missense_S561T,Missense_S561T,Missense_S395T,Missense_S407T exm396600 4 41652521 [A/G] NM_001112717,NM_001112718,NM_014988,NM_001112720,NM_001112719 LIMCH1,LIMCH1,LIMCH1,LIMCH1,LIMCH1 EXON Missense_E593K,Missense_E593K,Missense_E593K,Missense_E427K,Missense_E439K exm396607 4 41663489 [A/G] NM_001112717,NM_001112718,NM_014988,NM_001112720,NM_001112719 LIMCH1,LIMCH1,LIMCH1,LIMCH1,LIMCH1 EXON Missense_G645E,Missense_G645E,Missense_G645E,Missense_G479E,Missense_G491E exm396608 4 41663522 [T/C] NM_001112717,NM_001112718,NM_014988,NM_001112720,NM_001112719 LIMCH1,LIMCH1,LIMCH1,LIMCH1,LIMCH1 EXON Missense_S656L,Missense_S656L,Missense_S656L,Missense_S490L,Missense_S502L exm396611 4 41664868 [A/G] NM_001112717,NM_001112718,NM_014988,NM_001112720,NM_001112719 LIMCH1,LIMCH1,LIMCH1,LIMCH1,LIMCH1 EXON Missense_R668Q,Missense_R668Q,Missense_R668Q,Missense_R502Q,Missense_R514Q exm396617 4 41664903 [T/C] NM_001112717,NM_001112718,NM_014988,NM_001112720,NM_001112719 LIMCH1,LIMCH1,LIMCH1,LIMCH1,LIMCH1 EXON Missense_S680P,Missense_S680P,Missense_S680P,Missense_S514P,Missense_S526P exm396621 4 41664970 [A/G] NM_001112717,NM_001112718,NM_014988,NM_001112720,NM_001112719 LIMCH1,LIMCH1,LIMCH1,LIMCH1,LIMCH1 EXON Missense_S702N,Missense_S702N,Missense_S702N,Missense_S536N,Missense_S548N exm396624 4 41668612 [T/C] NM_001112717,NM_001112718,NM_014988,NM_001112720,NM_001112719 LIMCH1,LIMCH1,LIMCH1,LIMCH1,LIMCH1 EXON Missense_T724M,Missense_T724M,Missense_T724M,Missense_T558M,Missense_T570M exm396627 4 41668651 [A/G] NM_001112717,NM_001112718,NM_014988,NM_001112720,NM_001112719 LIMCH1,LIMCH1,LIMCH1,LIMCH1,LIMCH1 EXON Missense_N737S,Missense_N737S,Missense_N737S,Missense_N571S,Missense_N583S exm396630 4 41673604 [T/C] NM_001112717,NM_001112718,NM_014988,NM_001112720,NM_001112719 LIMCH1,LIMCH1,LIMCH1,LIMCH1,LIMCH1 EXON Missense_M759T,Missense_M759T,Missense_M759T,Missense_M593T,Missense_M605T exm396631 4 41673609 [T/C] NM_001112717,NM_001112718,NM_014988,NM_001112720,NM_001112719 LIMCH1,LIMCH1,LIMCH1,LIMCH1,LIMCH1 EXON Missense_P761S,Missense_P761S,Missense_P761S,Missense_P595S,Missense_P607S exm396642 4 41683026 [A/G] NM_001112717,NM_001112718,NM_014988,NM_001112720,NM_001112719 LIMCH1,LIMCH1,LIMCH1,LIMCH1,LIMCH1 EXON Missense_A839T,Missense_A838T,Missense_A839T,Missense_A672T,Missense_A684T exm396646 4 41683047 [T/C] NM_001112717,NM_001112718,NM_014988,NM_001112720,NM_001112719 LIMCH1,LIMCH1,LIMCH1,LIMCH1,LIMCH1 EXON Missense_S846P,Missense_S845P,Missense_S846P,Missense_S679P,Missense_S691P exm396655 4 41686520 [T/C] NM_001112717,NM_001112718,NM_014988,NM_001112720,NM_001112719 LIMCH1,LIMCH1,LIMCH1,LIMCH1,LIMCH1 EXON Missense_P934S,Missense_P933S,Missense_P934S,Missense_P767S,Missense_P779S exm2074389 4 41687764 [A/C] NM_001112717,NM_001112718,NM_014988,NM_001112720,NM_001112719 LIMCH1,LIMCH1,LIMCH1,LIMCH1,LIMCH1 EXON Missense_H951Q,Missense_H950Q,Missense_H951Q,Missense_H784Q,Missense_H796Q exm396661 4 41687843 [T/C] NM_001112717,NM_001112718,NM_014988,NM_001112720,NM_001112719 LIMCH1,LIMCH1,LIMCH1,LIMCH1,LIMCH1 EXON Missense_R978W,Missense_R977W,Missense_R978W,Missense_R811W,Missense_R823W exm2074402 4 41694392 [T/C] NM_001112717,NM_001112718,NM_014988,NM_001112720,NM_001112719 LIMCH1,LIMCH1,LIMCH1,LIMCH1,LIMCH1 EXON Nonsense_R1047X,Nonsense_R1046X,Nonsense_R1073X,Nonsense_R880X,Nonsense_R892X exm2269915 4 41833487 [T/C] exm396714 4 41941247 [T/G] NM_018126 TMEM33 EXON Missense_L59V exm396733 4 41956181 [A/G] NM_018126 TMEM33 EXON Missense_A237T exm396743 4 41983841 [A/G] NM_001029955 DCAF4L1 EXON Missense_E11G exm396745 4 41983864 [A/G] NM_001029955 DCAF4L1 EXON Missense_A19T exm2074437 4 41983886 [T/C] NM_001029955 DCAF4L1 EXON Missense_S26F exm396757 4 41984395 [A/G] NM_001029955 DCAF4L1 EXON Missense_A196T exm396768 4 41984759 [A/G] NM_001029955 DCAF4L1 EXON Missense_Y317C exm396788 4 41992715 [T/C] NM_006345 SLC30A9 EXON Missense_S16F exm396794 4 42003671 [A/G] NM_006345 SLC30A9 EXON Missense_M50V exm396795 4 42003677 [T/C] NM_006345 SLC30A9 EXON Missense_P52S exm396798 4 42003768 [T/G] NM_006345 SLC30A9 EXON Missense_R82I exm396799 4 42003775 [T/A] NM_006345 SLC30A9 EXON Missense_E84D exm396804 4 42020142 [A/G] NM_006345 SLC30A9 EXON Missense_T97A exm396808 4 42022439 [T/C] NM_006345 SLC30A9 EXON Missense_A114V exm396819 4 42025372 [A/G] NM_006345 SLC30A9 EXON Missense_R194H exm396823 4 42051452 [A/G] NM_006345 SLC30A9 EXON Missense_M266V exm396839 4 42072544 [A/C] NM_006345 SLC30A9 EXON Synonymous_G418G exm396857 4 42119584 [G/C] NM_001159547,NM_207406 BEND4,BEND4 EXON Silent,Missense_S519C exm396867 4 42122289 [T/C] NM_001159547,NM_207406 BEND4,BEND4 EXON Missense_N390S,Missense_N390S exm396874 4 42145534 [T/C] NM_001159547,NM_207406 BEND4,BEND4 EXON Missense_Y322C,Missense_Y322C exm396883 4 42145639 [A/G] NM_001159547,NM_207406 BEND4,BEND4 EXON Missense_V287A,Missense_V287A exm396884 4 42145667 [A/C] NM_001159547,NM_207406 BEND4,BEND4 EXON Missense_D278Y,Missense_D278Y exm396890 4 42145806 [T/C] NM_001159547,NM_207406 BEND4,BEND4 EXON Missense_I231M,Missense_I231M exm396897 4 42145937 [A/G] NM_001159547,NM_207406 BEND4,BEND4 EXON Missense_L188F,Missense_L188F exm396898 4 42146005 [T/C] NM_001159547,NM_207406 BEND4,BEND4 EXON Missense_R165Q,Missense_R165Q exm2265694 4 42221342 [A/G] exm396925 4 42403140 [T/C] NM_001080505 SHISA3 EXON Missense_S130L exm396929 4 42403232 [G/C] NM_001080505 SHISA3 EXON Missense_Q161E exm396939 4 42403332 [T/C] NM_001080505 SHISA3 EXON Missense_P194L exm396942 4 42403343 [A/C] NM_001080505 SHISA3 EXON Missense_T198P exm396945 4 42403395 [A/G] NM_001080505 SHISA3 EXON Missense_Q215R exm396981 4 42457348 [T/C] NM_001105529,NM_006095 ATP8A1,ATP8A1 EXON Missense_K913R,Missense_K928R exm396987 4 42457561 [T/C] NM_001105529,NM_006095 ATP8A1,ATP8A1 EXON Missense_C877Y,Missense_C892Y exm396991 4 42466813 [T/C] NM_001105529,NM_006095 ATP8A1,ATP8A1 EXON Missense_K823R,Missense_K838R exm2256613 4 42466943 [T/C] NM_001105529,NM_006095 ATP8A1,ATP8A1 EXON Synonymous_Q810Q,Synonymous_Q825Q exm396996 4 42487633 [T/C] NM_001105529,NM_006095 ATP8A1,ATP8A1 EXON Missense_R720Q,Missense_R735Q exm396997 4 42487652 [T/C] NM_001105529,NM_006095 ATP8A1,ATP8A1 EXON Missense_T714A,Missense_T729A exm2256614 4 42509067 [A/G] NM_001105529,NM_006095 ATP8A1,ATP8A1 EXON Synonymous_L669L,Synonymous_L684L exm397004 4 42509101 [A/G] NM_001105529,NM_006095 ATP8A1,ATP8A1 EXON Missense_T658M,Missense_T673M exm397011 4 42524247 [T/C] NM_001105529,NM_006095 ATP8A1,ATP8A1 EXON Missense_Y611C,Missense_Y626C exm397015 4 42545953 [T/C] NM_001105529,NM_006095 ATP8A1,ATP8A1 EXON Missense_R553Q,Missense_R568Q exm397016 4 42545959 [T/C] NM_001105529,NM_006095 ATP8A1,ATP8A1 EXON Missense_K551R,Missense_K566R exm397017 4 42546002 [T/C] NM_001105529,NM_006095 ATP8A1,ATP8A1 EXON Missense_A537T,Missense_A552T exm397019 4 42551031 [T/C] NM_001105529,NM_006095 ATP8A1,ATP8A1 EXON Missense_S536G,Missense_S551G exm397021 4 42551048 [T/C] NM_001105529,NM_006095 ATP8A1,ATP8A1 EXON Missense_N530S,Missense_N545S exm397035 4 42576646 [T/C] NM_001105529,NM_006095 ATP8A1,ATP8A1 EXON Missense_V429I,Missense_V429I exm397037 4 42576655 [T/C] NM_001105529,NM_006095 ATP8A1,ATP8A1 EXON Missense_I426V,Missense_I426V exm-rs898500 4 42639186 [A/G] NM_001105529,NM_006095 ATP8A1,ATP8A1 Silent,Silent exm2256615 4 42652004 [A/G] NM_001105529,NM_006095 ATP8A1,ATP8A1 Silent,Silent exm397086 4 42895308 [A/G] NM_001080476 GRXCR1 EXON Missense_E9K exm397090 4 42895357 [A/G] NM_001080476 GRXCR1 EXON Missense_S25N exm397095 4 42895423 [T/C] NM_001080476 GRXCR1 EXON Missense_A47V exm397099 4 42895555 [T/G] NM_001080476 GRXCR1 EXON Missense_G91V exm2074643 4 42895614 [T/C] NM_001080476 GRXCR1 EXON Missense_Y111H exm397107 4 42965002 [A/G] NM_001080476 GRXCR1 EXON Missense_R160G exm397113 4 43032458 [A/G] NM_001080476 GRXCR1 EXON Missense_M258I exm397116 4 43032469 [A/G] NM_001080476 GRXCR1 EXON Missense_R262Q exm2256620 4 43328707 [T/C] exm2269917 4 43485769 [T/C] exm2269747 4 43913525 [T/C] exm2256622 4 44173205 [A/G] exm397126 4 44176853 [T/C] NM_198353 KCTD8 EXON Missense_R459H exm397133 4 44177033 [T/C] NM_198353 KCTD8 EXON Missense_Q399R exm397151 4 44450014 [A/G] NM_198353 KCTD8 EXON Missense_A176V exm397155 4 44450131 [T/A] NM_198353 KCTD8 EXON Missense_F137Y exm2074746 4 44450308 [T/C] NM_198353 KCTD8 EXON Missense_S78N exm2261718 4 44531148 [A/G] exm397178 4 44624550 [A/C] NM_182592 YIPF7 EXON Missense_C242G exm397195 4 44638017 [A/G] NM_182592 YIPF7 EXON Nonsense_Q92X exm397205 4 44652030 [T/C] NM_182592 YIPF7 EXON Missense_A54T exm397211 4 44680658 [T/C] NM_021927 GUF1 EXON Missense_R7W exm397218 4 44682465 [T/C] NM_021927 GUF1 EXON Missense_L58P exm397221 4 44682716 [A/G] NM_021927 GUF1 EXON Missense_I95V exm397223 4 44682768 [A/G] NM_021927 GUF1 EXON Missense_R112Q exm397225 4 44682831 [A/G] NM_021927 GUF1 EXON Missense_Q133R exm397227 4 44683156 [T/G] NM_021927 GUF1 EXON Missense_S148I exm2241039 4 44684357 [C/G] NM_021927 GUF1 EXON Missense_Q172E exm397228 4 44684396 [A/G] NM_021927 GUF1 EXON Missense_A185T exm397237 4 44685328 [G/C] NM_021927 GUF1 EXON Missense_C221S exm397240 4 44688041 [A/G] NM_021927 GUF1 Silent exm397245 4 44688593 [A/T] NM_021927 GUF1 EXON Missense_R267S exm397246 4 44688621 [A/G] NM_021927 GUF1 EXON Missense_D277N exm2241040 4 44691907 [A/T] NM_021927 GUF1 EXON Missense_L417Q exm397277 4 44693710 [A/G] NM_021927 GUF1 EXON Missense_I503V exm397283 4 44696454 [G/C] NM_021927 GUF1 EXON Missense_Q547E exm2274005 4 44697642 [T/C] NM_021927 GUF1 EXON Missense_H576Y exm397295 4 44699447 [A/G] NM_021927 GUF1 EXON Missense_V620I exm397303 4 44700622 [A/G] NM_021927 GUF1 EXON Missense_K645R exm2274006 4 44700642 [A/G] NM_021927 GUF1 EXON Missense_V652I exm2074809 4 44700672 [A/G] NM_021927 GUF1 EXON Missense_V662I exm397319 4 44712970 [T/C] NM_001270881,NM_138335,NR_073095,NR_073094,NM_001270880 GNPDA2,GNPDA2,GNPDA2,GNPDA2,GNPDA2 EXON Synonymous_E128E,Synonymous_E198E,Silent,Silent,Synonymous_E164E exm397321 4 44713017 [T/C] NM_001270881,NM_138335,NR_073095,NR_073094,NM_001270880 GNPDA2,GNPDA2,GNPDA2,GNPDA2,GNPDA2 EXON Missense_T113A,Missense_T183A,Silent,Silent,Missense_T149A exm397329 4 44724158 [A/G] NM_001270881,NM_138335,NR_073095,NR_073094,NM_001270880 GNPDA2,GNPDA2,GNPDA2,GNPDA2,GNPDA2 EXON Silent,Missense_R23C,Silent,Silent,Missense_R23C exm2265697 4 44832274 [A/G] exm2256624 4 45164637 [T/G] exm-rs12641981 4 45179883 [T/C] exm-rs10938397 4 45182527 [A/G] exm-rs10517133 4 45364914 [C/G] exm2256625 4 45638903 [T/C] exm2269750 4 46039478 [T/C] NM_173536 GABRG1 EXON Silent exm397332 4 46043025 [T/C] NM_173536 GABRG1 EXON Missense_V460I exm2274007 4 46043120 [G/C] NM_173536 GABRG1 EXON Missense_R428T exm397338 4 46043162 [T/C] NM_173536 GABRG1 EXON Missense_S414N exm397343 4 46043222 [A/G] NM_173536 GABRG1 EXON Missense_I394T exm397344 4 46043232 [T/C] NM_173536 GABRG1 EXON Missense_M391V exm397381 4 46125883 [A/T] NM_173536 GABRG1 EXON Missense_S16R exm2074853 4 46125894 [A/G] NM_173536 GABRG1 EXON Missense_L13F exm2074856 4 46252603 [T/C] NM_000807,NM_001114175 GABRA2,GABRA2 EXON Missense_V360I,Missense_V360I exm2074872 4 46390698 [T/C] NM_000807,NM_001114175 GABRA2,GABRA2 EXON Missense_N9S,Missense_N9S exm2265698 4 46685463 [A/G] exm397423 4 46737040 [A/G] NM_130902 COX7B2 EXON Missense_T57I exm397432 4 46930390 [A/G] NM_000809,NM_001204267,NM_001204266 GABRA4,GABRA4,GABRA4 EXON Missense_S506L,Missense_S436L,Missense_S487L exm397439 4 46930510 [T/C] NM_000809,NM_001204267,NM_001204266 GABRA4,GABRA4,GABRA4 EXON Missense_R466Q,Missense_R396Q,Missense_R447Q exm397446 4 46967050 [A/C] NM_000809,NM_001204267,NM_001204266 GABRA4,GABRA4,GABRA4 EXON Missense_K357N,Missense_K287N,Missense_K338N exm397447 4 46967058 [T/C] NM_000809,NM_001204267,NM_001204266 GABRA4,GABRA4,GABRA4 EXON Missense_T355A,Missense_T285A,Missense_T336A exm2074896 4 46967070 [T/C] NM_000809,NM_001204267,NM_001204266 GABRA4,GABRA4,GABRA4 EXON Missense_A351T,Missense_A281T,Missense_A332T exm397479 4 46995366 [T/G] NM_000809,NM_001204267,NM_001204266 GABRA4,GABRA4,GABRA4 EXON Missense_L26M,Silent,Silent exm397480 4 46995387 [T/C] NM_000809,NM_001204267,NM_001204266 GABRA4,GABRA4,GABRA4 EXON Missense_A19T,Silent,Silent exm397487 4 47033936 [A/G] NM_000812 GABRB1 EXON Missense_N29S exm2269751 4 47052626 [T/C] NM_000812 GABRB1 Silent exm397524 4 47408896 [A/G] NM_000812 GABRB1 EXON Missense_D345N exm397536 4 47427873 [C/G] NM_000812 GABRB1 EXON Missense_H421Q exm397537 4 47427887 [A/G] NM_000812 GABRB1 EXON Missense_K426R exm2265835 4 47430927 [A/G] exm397548 4 47455086 [A/G] NM_017845 COMMD8 EXON Missense_A174V exm397550 4 47455099 [A/G] NM_017845 COMMD8 EXON Nonsense_Q170X exm397551 4 47455100 [T/C] NM_017845 COMMD8 EXON Missense_I169M exm397553 4 47455135 [T/C] NM_017845 COMMD8 EXON Missense_I158V exm397558 4 47455197 [T/C] NM_017845 COMMD8 EXON Missense_R137Q exm2074945 4 47455227 [A/G] NM_017845 COMMD8 EXON Missense_A127V exm397562 4 47462210 [A/C] NM_017845 COMMD8 EXON Missense_I58S exm397569 4 47462309 [T/G] NM_017845 COMMD8 EXON Missense_H25P exm2256629 4 47504161 [T/G] NM_020453 ATP10D Silent exm397580 4 47514660 [A/G] NM_020453 ATP10D EXON Missense_A35T exm397581 4 47514685 [T/C] NM_020453 ATP10D EXON Missense_T43I exm2074959 4 47514778 [A/G] NM_020453 ATP10D EXON Missense_N74S exm397590 4 47525054 [T/C] NM_020453 ATP10D EXON Missense_C171R exm397593 4 47525087 [T/C] NM_020453 ATP10D EXON Missense_R182C exm397594 4 47525088 [A/G] NM_020453 ATP10D EXON Missense_R182H exm397601 4 47527628 [A/G] NM_020453 ATP10D EXON Missense_N249D exm397606 4 47537546 [A/G] NM_020453 ATP10D EXON Missense_R266H exm397608 4 47537548 [A/G] NM_020453 ATP10D EXON Missense_V267M exm397611 4 47537621 [T/C] NM_020453 ATP10D EXON Missense_V291A exm397618 4 47537994 [T/C] NM_020453 ATP10D EXON Missense_T320I exm397621 4 47538044 [A/G] NM_020453 ATP10D EXON Missense_A337T exm397628 4 47538725 [A/C] NM_020453 ATP10D EXON Missense_Y389S exm397630 4 47538816 [T/G] NM_020453 ATP10D EXON Missense_Q419H exm397634 4 47538911 [A/G] NM_020453 ATP10D EXON Missense_R451Q exm397643 4 47548776 [A/G] NM_020453 ATP10D EXON Missense_N511S exm397644 4 47548810 [A/T] NM_020453 ATP10D EXON Missense_F522L exm397647 4 47556752 [A/G] NM_020453 ATP10D EXON Missense_V549M exm397651 4 47556908 [A/G] NM_020453 ATP10D EXON Missense_A601T exm397652 4 47556923 [T/C] NM_020453 ATP10D EXON Nonsense_R606X exm397656 4 47559760 [A/G] NM_020453 ATP10D EXON Missense_R635Q exm397657 4 47559764 [T/A] NM_020453 ATP10D EXON Missense_R636S exm397662 4 47559850 [G/C] NM_020453 ATP10D EXON Missense_R665P exm397670 4 47560002 [A/C] NM_020453 ATP10D EXON Missense_P716T exm397671 4 47560015 [A/G] NM_020453 ATP10D EXON Missense_N720S exm2241050 4 47560207 [A/G] NM_020453 ATP10D EXON Missense_R784Q exm397695 4 47563064 [A/G] NM_020453 ATP10D EXON Missense_M880I exm-rs10938494 4 47563448 [A/G] NM_020453 ATP10D Silent exm397709 4 47570876 [A/G] NM_020453 ATP10D EXON Missense_S959N exm397710 4 47570881 [A/G] NM_020453 ATP10D EXON Missense_I961V exm397712 4 47570980 [T/C] NM_020453 ATP10D EXON Nonsense_R994X exm397713 4 47570981 [A/G] NM_020453 ATP10D EXON Missense_R994Q exm397720 4 47571089 [A/G] NM_020453 ATP10D EXON Missense_R1030Q exm397735 4 47578863 [T/C] NM_020453 ATP10D EXON Missense_V1147A exm397736 4 47578880 [T/C] NM_020453 ATP10D EXON Missense_L1153F exm397739 4 47578971 [A/G] NM_020453 ATP10D EXON Missense_R1183K exm397749 4 47584046 [A/G] NM_020453 ATP10D EXON Missense_V1240I exm2075016 4 47593082 [A/G] NM_020453 ATP10D EXON Missense_G1322E exm397764 4 47593163 [A/G] NM_020453 ATP10D EXON Missense_K1349R exm397769 4 47593283 [C/G] NM_020453 ATP10D EXON Missense_S1389T exm397774 4 47593397 [A/G] NM_020453 ATP10D EXON Missense_X1427W exm397776 4 47597749 [G/C] NM_006587 CORIN EXON Missense_L1040V exm397783 4 47602278 [A/G] NM_006587 CORIN EXON Missense_R967W exm397805 4 47625648 [A/G] NM_006587 CORIN EXON Missense_I827T exm397815 4 47628422 [T/C] NM_006587 CORIN EXON Missense_G772E exm397818 4 47628455 [T/C] NM_006587 CORIN EXON Missense_N761S exm397819 4 47628482 [A/G] NM_006587 CORIN EXON Missense_T752I exm397824 4 47643965 [A/G] NM_006587 CORIN EXON Nonsense_Q724X exm397826 4 47644009 [A/G] NM_006587 CORIN EXON Missense_T709I exm397847 4 47655618 [A/G] NM_006587 CORIN EXON Missense_C599R exm397851 4 47655651 [A/G] NM_006587 CORIN EXON Missense_R588C exm397854 4 47663736 [T/C] NM_006587 CORIN EXON Missense_Y576C exm397855 4 47663741 [A/C] NM_006587 CORIN EXON Missense_D574E exm397856 4 47663760 [T/G] NM_006587 CORIN EXON Missense_Q568P exm397857 4 47663799 [A/G] NM_006587 CORIN EXON Missense_T555I exm397859 4 47663848 [A/G] NM_006587 CORIN EXON Missense_R539C exm397864 4 47667064 [T/C] NM_006587 CORIN EXON Missense_H525R exm397871 4 47667263 [T/C] NM_006587 CORIN EXON Missense_T459A exm397882 4 47679958 [T/C] NM_006587 CORIN EXON Missense_V416I exm397889 4 47682170 [T/C] NM_006587 CORIN EXON Missense_E374K exm2256631 4 47682174 [A/G] NM_006587 CORIN EXON Synonymous_S372S exm397892 4 47682209 [T/C] NM_006587 CORIN EXON Missense_V361M exm397898 4 47682260 [T/G] NM_006587 CORIN EXON Missense_P344T exm2241051 4 47685768 [A/C] NM_006587 CORIN EXON Missense_L334W exm2075067 4 47685843 [T/C] NM_006587 CORIN EXON Missense_N309S exm397903 4 47695017 [A/G] NM_006587 CORIN EXON Missense_C295R exm397915 4 47746602 [T/A] NM_006587 CORIN Silent exm397920 4 47765462 [A/T] NM_006587 CORIN EXON Missense_Y184F exm397930 4 47788772 [A/G] NM_006587 CORIN EXON Missense_L127F exm2274010 4 47788868 [A/C] NM_006587 CORIN EXON Missense_D95Y exm397937 4 47808995 [A/G] NM_006587 CORIN EXON Missense_R45W exm397938 4 47809006 [C/G] NM_006587 CORIN EXON Missense_A41G exm397941 4 47839929 [T/C] NM_006587 CORIN EXON Missense_C13Y exm397943 4 47839939 [T/C] NM_006587 CORIN EXON Missense_E10K exm397944 4 47839944 [A/G] NM_006587 CORIN EXON Missense_A8V exm397949 4 47850197 [T/C] NM_152995 NFXL1 EXON Missense_T907A exm397950 4 47850293 [T/C] NM_152995 NFXL1 EXON Missense_D875N exm397965 4 47857180 [A/G] NM_152995 NFXL1 EXON Missense_L773F exm397973 4 47880553 [T/C] NM_152995 NFXL1 EXON Missense_G690R exm397981 4 47886407 [A/C] NM_152995 NFXL1 EXON Missense_I624M exm397987 4 47887537 [A/G] NM_152995 NFXL1 EXON Missense_A601V exm397990 4 47887633 [T/C] NM_152995 NFXL1 EXON Missense_R569H exm398001 4 47896274 [G/C] NM_152995 NFXL1 EXON Missense_P459A exm398002 4 47896315 [A/G] NM_152995 NFXL1 EXON Missense_V445A exm398005 4 47898575 [A/G] NM_152995 NFXL1 EXON Missense_R432C exm2277280 4 47901438 [C/G] NM_152995 NFXL1 EXON Missense_R259G exm398022 4 47901476 [A/G] NM_152995 NFXL1 EXON Missense_P246L exm398029 4 47905327 [A/G] NM_152995 NFXL1 EXON Missense_S177L exm398030 4 47907320 [T/A] NM_152995 NFXL1 EXON Missense_N150K exm398033 4 47907352 [A/G] NM_152995 NFXL1 EXON Missense_R140C exm398062 4 47938801 [T/G] NM_001142564,NM_000087 CNGA1,CNGA1 EXON Nonsense_Y639X,Nonsense_Y570X exm398066 4 47938971 [A/G] NM_001142564,NM_000087 CNGA1,CNGA1 EXON Nonsense_R583X,Nonsense_R514X exm398074 4 47939187 [A/C] NM_001142564,NM_000087 CNGA1,CNGA1 EXON Missense_W511G,Missense_W442G exm2075123 4 47939240 [T/C] NM_001142564,NM_000087 CNGA1,CNGA1 EXON Missense_R493Q,Missense_R424Q exm398081 4 47939441 [A/G] NM_001142564,NM_000087 CNGA1,CNGA1 EXON Missense_T426I,Missense_T357I exm398083 4 47939468 [T/C] NM_001142564,NM_000087 CNGA1,CNGA1 EXON Missense_K417R,Missense_K348R exm2075127 4 47939480 [T/C] NM_001142564,NM_000087 CNGA1,CNGA1 EXON Missense_R413H,Missense_R344H exm398087 4 47939552 [A/G] NM_001142564,NM_000087 CNGA1,CNGA1 EXON Missense_S389F,Missense_S320F exm398111 4 47945295 [T/C] NM_001142564,NM_000087 CNGA1,CNGA1 EXON Missense_D187N,Missense_D118N exm398114 4 47951911 [T/C] NM_001142564,NM_000087 CNGA1,CNGA1 EXON Missense_E149K,Missense_E80K exm398118 4 47953415 [A/C] NM_001142564,NM_000087 CNGA1,CNGA1 EXON Missense_G133V,Missense_G64V exm398122 4 47954624 [T/C] NM_001142564,NM_000087 CNGA1,CNGA1 EXON Missense_R101Q,Missense_R32Q exm2075139 4 48027129 [T/C] NM_207330 NIPAL1 EXON Missense_C31R exm398134 4 48027165 [A/C] NM_207330 NIPAL1 EXON Missense_P43T exm398136 4 48027178 [T/C] NM_207330 NIPAL1 EXON Missense_T47M exm398140 4 48027327 [A/G] NM_207330 NIPAL1 EXON Missense_A97T exm398141 4 48027333 [A/G] NM_207330 NIPAL1 EXON Missense_K99E exm398151 4 48037014 [T/A] NM_207330 NIPAL1 EXON Missense_E193V exm398158 4 48037777 [T/C] NM_207330 NIPAL1 EXON Missense_P274L exm398163 4 48037926 [A/G] NM_207330 NIPAL1 EXON Missense_I324V exm2075150 4 48037975 [A/C] NM_207330 NIPAL1 EXON Missense_T340N exm398173 4 48038082 [A/G] NM_207330 NIPAL1 EXON Missense_V376I exm398174 4 48038098 [A/G] NM_207330 NIPAL1 EXON Missense_N381S exm398176 4 48038163 [A/G] NM_207330 NIPAL1 EXON Missense_T403A exm398198 4 48082095 [T/C] NM_003328 TXK EXON Missense_R336Q exm2265836 4 48088446 [A/G] NM_003328 TXK Silent exm398201 4 48088500 [T/G] NM_003328 TXK EXON Missense_E313D exm2075172 4 48088534 [T/C] NM_003328 TXK EXON Missense_N302S exm398202 4 48088540 [A/G] NM_003328 TXK EXON Missense_A300V exm398205 4 48091768 [A/G] NM_003328 TXK EXON Synonymous_Y261Y exm398213 4 48096164 [A/C] NM_003328 TXK EXON Missense_W213C exm398221 4 48097227 [A/C] NM_003328 TXK EXON Missense_A172S exm398241 4 48114517 [A/G] NM_003328 TXK EXON Missense_R63C exm398243 4 48115264 [T/C] NM_003328 TXK EXON Missense_R45H exm2075190 4 48116380 [A/C] NM_003328 TXK EXON Missense_C19F exm398250 4 48136181 [C/G] NM_003328 TXK EXON Missense_L3V exm398282 4 48147513 [A/G] NM_003215 TEC EXON Missense_W389R exm398283 4 48147546 [T/C] NM_003215 TEC EXON Missense_S378G exm398301 4 48158705 [A/G] NM_003215 TEC EXON Missense_R262C exm398311 4 48169969 [T/C] NM_003215 TEC EXON Missense_R166Q exm398315 4 48172266 [A/G] NM_003215 TEC EXON Synonymous_S151S exm398321 4 48173453 [A/G] NM_003215 TEC EXON Missense_A86V exm2264052 4 48199195 [A/C] NM_003215 TEC Silent exm398354 4 48381759 [A/G] NM_020846 SLAIN2 EXON Missense_I252M exm398356 4 48381799 [A/G] NM_020846 SLAIN2 EXON Missense_I266V exm398373 4 48422240 [A/G] NM_020846 SLAIN2 EXON Missense_G487S exm398383 4 48424063 [A/G] NM_020846 SLAIN2 EXON Missense_K572R exm2075249 4 48490766 [T/C] NM_152679 SLC10A4 EXON Missense_A375V exm398436 4 48490930 [A/G] NM_152679 SLC10A4 EXON Missense_M430V exm398438 4 48490939 [A/G] NM_152679 SLC10A4 EXON Missense_A433T exm398469 4 48493237 [A/G] NM_175619 ZAR1 EXON Missense_S310N exm398481 4 48496243 [G/C] NM_175619 ZAR1 EXON Missense_S419R exm2256634 4 48498290 [T/C] exm398494 4 48502177 [T/C] NM_015030 FRYL EXON Missense_A2885T exm398496 4 48502201 [T/C] NM_015030 FRYL EXON Missense_S2877G exm398497 4 48503659 [A/G] NM_015030 FRYL EXON Missense_T2858M exm398505 4 48512084 [T/C] NM_015030 FRYL EXON Missense_A2796T exm2075271 4 48512101 [T/C] NM_015030 FRYL EXON Missense_N2790S exm398509 4 48512169 [A/C] NM_015030 FRYL EXON Missense_M2767I exm398527 4 48514682 [A/C] NM_015030 FRYL EXON Missense_G2654V exm398528 4 48514703 [T/C] NM_015030 FRYL EXON Missense_Q2647R exm2075277 4 48517084 [G/C] NM_015030 FRYL EXON Missense_R2633T exm398534 4 48517232 [T/C] NM_015030 FRYL EXON Missense_I2584V exm398535 4 48517262 [T/C] NM_015030 FRYL EXON Missense_V2574I exm398552 4 48530238 [T/G] NM_015030 FRYL EXON Missense_S2340Y exm398562 4 48533228 [T/C] NM_015030 FRYL EXON Missense_N2283S exm398578 4 48537706 [T/C] NM_015030 FRYL EXON Missense_T2178A exm398589 4 48542585 [T/C] NM_015030 FRYL EXON Missense_N2027S exm398598 4 48542805 [A/G] NM_015030 FRYL EXON Missense_R1954W exm398600 4 48542895 [G/C] NM_015030 FRYL EXON Missense_P1924A exm398603 4 48544099 [T/C] NM_015030 FRYL EXON Missense_I1878V exm2075314 4 48546009 [A/T] NM_015030 FRYL EXON Missense_I1803F exm2075318 4 48546803 [A/G] NM_015030 FRYL EXON Missense_S1800P exm398616 4 48549607 [A/G] NM_015030 FRYL EXON Missense_F1690L exm398620 4 48549745 [A/G] NM_015030 FRYL EXON Missense_R1644C exm398623 4 48550755 [A/C] NM_015030 FRYL EXON Missense_V1614L exm398633 4 48553541 [T/A] NM_015030 FRYL EXON Missense_N1497I exm398637 4 48555241 [T/C] NM_015030 FRYL EXON Missense_V1476I exm398638 4 48555265 [T/C] NM_015030 FRYL EXON Missense_T1468A exm398640 4 48558995 [A/G] NM_015030 FRYL EXON Synonymous_Y1422Y exm398643 4 48559084 [A/C] NM_015030 FRYL EXON Missense_A1393S exm398650 4 48559502 [T/C] NM_015030 FRYL EXON Missense_V1365I exm398651 4 48559517 [T/G] NM_015030 FRYL EXON Missense_Q1360K exm398653 4 48559541 [A/G] NM_015030 FRYL EXON Missense_R1352W exm398654 4 48559549 [T/C] NM_015030 FRYL EXON Missense_R1349H exm398661 4 48563497 [T/C] NM_015030 FRYL EXON Missense_A1285T exm398662 4 48563599 [C/G] NM_015030 FRYL EXON Missense_D1251H exm398663 4 48563616 [A/G] NM_015030 FRYL EXON Missense_L1245S exm398672 4 48566002 [T/C] NM_015030 FRYL EXON Missense_G1187S exm2256635 4 48566024 [T/C] NM_015030 FRYL EXON Synonymous_T1179T exm398695 4 48572932 [T/A] NM_015030 FRYL EXON Missense_M970L exm398710 4 48581017 [A/T] NM_015030 FRYL EXON Missense_Q834L exm398714 4 48581089 [T/C] NM_015030 FRYL EXON Missense_K810R exm398716 4 48581258 [T/C] NM_015030 FRYL EXON Missense_T754A exm398718 4 48582883 [T/C] NM_015030 FRYL EXON Missense_Q753R exm398723 4 48583490 [T/C] NM_015030 FRYL EXON Missense_V707I exm2075363 4 48583537 [A/G] NM_015030 FRYL EXON Missense_A691V exm398736 4 48583595 [T/G] NM_015030 FRYL EXON Missense_P672T exm398742 4 48584744 [T/C] NM_015030 FRYL EXON Missense_I586V exm398772 4 48622707 [A/G] NM_015030 FRYL EXON Missense_T88M exm398784 4 48834667 [A/G] NM_001079841,NM_001079840,NM_017830,NM_001079839,NM_001079842,NM_001168254 OCIAD1,OCIAD1,OCIAD1,OCIAD1,OCIAD1,OCIAD1 EXON Missense_E9G,Missense_E9G,Missense_E9G,Missense_E9G,Missense_E9G,Missense_E14G exm2241076 4 48835465 [A/G] NM_001079841,NM_001079840,NM_017830,NM_001079839,NM_001079842,NM_001168254 OCIAD1,OCIAD1,OCIAD1,OCIAD1,OCIAD1,OCIAD1 EXON Missense_A36T,Missense_A36T,Missense_A36T,Missense_A36T,Missense_A36T,Missense_A41T exm398795 4 48844670 [A/G] NM_001079841,NM_001079840,NM_017830,NM_001079839,NM_001079842,NM_001168254 OCIAD1,OCIAD1,OCIAD1,OCIAD1,OCIAD1,OCIAD1 EXON Missense_T53A,Missense_T53A,Missense_T53A,Missense_T53A,Missense_T53A,Missense_T58A exm398805 4 48852080 [T/C] NM_001079841,NM_001079840,NM_017830,NM_001079839,NM_001079842,NM_001168254 OCIAD1,OCIAD1,OCIAD1,OCIAD1,OCIAD1,OCIAD1 EXON Nonsense_R120X,Nonsense_R120X,Nonsense_R120X,Nonsense_R120X,Nonsense_R120X,Nonsense_R125X exm398821 4 48859250 [T/G] NM_001079841,NM_001079840,NM_017830,NM_001079839,NM_001079842,NM_001168254 OCIAD1,OCIAD1,OCIAD1,OCIAD1,OCIAD1,OCIAD1 EXON Silent,Silent,Nonsense_E190X,Nonsense_E190X,Silent,Nonsense_E195X exm398826 4 48859320 [T/C] NM_001079841,NM_001079840,NM_017830,NM_001079839,NM_001079842,NM_001168254 OCIAD1,OCIAD1,OCIAD1,OCIAD1,OCIAD1,OCIAD1 EXON Silent,Silent,Missense_S213F,Missense_S213F,Silent,Missense_S218F exm398828 4 48862754 [A/G] NM_001079841,NM_001079840,NM_017830,NM_001079839,NM_001079842,NM_001168254 OCIAD1,OCIAD1,OCIAD1,OCIAD1,OCIAD1,OCIAD1 EXON Silent,Missense_K187R,Missense_K238R,Missense_K238R,Missense_K187R,Missense_K243R exm398829 4 48887527 [T/C] NM_152398,NM_001014446 OCIAD2,OCIAD2 EXON Silent,Missense_G147R exm398831 4 48887542 [T/C] NM_152398,NM_001014446 OCIAD2,OCIAD2 EXON Silent,Missense_G142R exm398834 4 48894820 [A/G] NM_152398,NM_001014446 OCIAD2,OCIAD2 EXON Silent,Missense_R118C exm398836 4 48894868 [A/G] NM_152398,NM_001014446 OCIAD2,OCIAD2 EXON Silent,Missense_Y102H exm398839 4 48896023 [G/C] NM_152398,NM_001014446 OCIAD2,OCIAD2 EXON Missense_R89G,Missense_L89V exm398840 4 48896026 [A/C] NM_152398,NM_001014446 OCIAD2,OCIAD2 EXON Missense_A88S,Missense_A88S exm398843 4 48899857 [T/C] NM_152398,NM_001014446 OCIAD2,OCIAD2 EXON Missense_V61I,Missense_V61I exm398845 4 48901878 [T/C] NM_152398,NM_001014446 OCIAD2,OCIAD2 EXON Missense_R44Q,Missense_R44Q exm398852 4 48988450 [A/C] NM_025087 CWH43 EXON Missense_P2T exm2241080 4 48988457 [T/G] NM_025087 CWH43 EXON Missense_L4R exm398857 4 48990552 [T/G] NM_025087 CWH43 EXON Missense_L34F exm398863 4 48990682 [A/G] NM_025087 CWH43 EXON Missense_I78V exm398884 4 49000542 [T/C] NM_025087 CWH43 EXON Missense_T260I exm398888 4 49005824 [T/C] NM_025087 CWH43 EXON Missense_I292T exm398916 4 49032874 [T/G] NM_025087 CWH43 EXON Missense_A469S exm398921 4 49034596 [T/G] NM_025087 CWH43 EXON Missense_S508A exm398922 4 49034606 [A/C] NM_025087 CWH43 EXON Missense_P511Q exm398938 4 49052722 [T/C] NM_025087 CWH43 EXON Missense_A626V exm398947 4 49063872 [A/C] NM_025087 CWH43 EXON Missense_H689N exm398958 4 52729610 [C/G] NM_015115,NM_001040402 DCUN1D4,DCUN1D4 EXON Missense_Q11H,Missense_Q11H exm2075536 4 52729635 [A/G] NM_015115,NM_001040402 DCUN1D4,DCUN1D4 EXON Missense_A20T,Missense_A20T exm398962 4 52729855 [T/G] NM_015115,NM_001040402 DCUN1D4,DCUN1D4 EXON Missense_G39V,Missense_G39V exm2075545 4 52740458 [A/C] NM_015115,NM_001040402 DCUN1D4,DCUN1D4 EXON Missense_S53Y,Missense_S53Y exm398965 4 52740504 [A/C] NM_015115,NM_001040402 DCUN1D4,DCUN1D4 EXON Missense_R68S,Missense_R68S exm398970 4 52743949 [T/C] NM_015115,NM_001040402 DCUN1D4,DCUN1D4 EXON Missense_S91L,Missense_S91L exm398974 4 52752804 [T/C] NM_015115,NM_001040402 DCUN1D4,DCUN1D4 EXON Synonymous_N138N,Synonymous_N138N exm398978 4 52765500 [A/G] NM_015115,NM_001040402 DCUN1D4,DCUN1D4 EXON Missense_T191A,Missense_T191A exm398994 4 52860750 [A/G] NM_001024611 LRRC66 EXON Missense_P813L exm398995 4 52860754 [T/A] NM_001024611 LRRC66 EXON Missense_S812C exm398998 4 52860859 [A/G] NM_001024611 LRRC66 EXON Missense_L777F exm398999 4 52860884 [A/C] NM_001024611 LRRC66 EXON Missense_N768K exm399005 4 52860961 [T/C] NM_001024611 LRRC66 EXON Missense_S743G exm399007 4 52861020 [T/C] NM_001024611 LRRC66 EXON Missense_S723N exm399016 4 52861299 [A/G] NM_001024611 LRRC66 EXON Missense_I630T exm399018 4 52861308 [T/C] NM_001024611 LRRC66 EXON Missense_S627N exm399023 4 52861494 [A/C] NM_001024611 LRRC66 EXON Missense_V565G exm399027 4 52861558 [A/G] NM_001024611 LRRC66 EXON Nonsense_Q544X exm399031 4 52861781 [A/T] NM_001024611 LRRC66 EXON Synonymous_V469V exm2256640 4 52861781 [A/T] NM_001024611 LRRC66 EXON Synonymous_V469V exm2275740 4 52861978 [A/G] NM_001024611 LRRC66 EXON Synonymous_L404L exm399047 4 52862136 [A/C] NM_001024611 LRRC66 EXON Missense_R351L exm2075585 4 52862250 [A/G] NM_001024611 LRRC66 EXON Missense_M313T exm399056 4 52862305 [T/G] NM_001024611 LRRC66 EXON Missense_P295T exm399059 4 52864010 [A/T] NM_001024611 LRRC66 EXON Missense_N254Y exm399068 4 52869526 [T/C] NM_001024611 LRRC66 EXON Missense_D177N exm399070 4 52869549 [A/T] NM_001024611 LRRC66 EXON Missense_K169I exm399075 4 52883368 [A/G] NM_001024611 LRRC66 EXON Missense_R138C exm399076 4 52883382 [T/G] NM_001024611 LRRC66 EXON Missense_S133Y exm399078 4 52883440 [A/C] NM_001024611 LRRC66 EXON Missense_L114V exm2275370 4 52883526 [T/C] NM_001024611 LRRC66 EXON Nonsense_W85X exm399079 4 52883563 [T/C] NM_001024611 LRRC66 EXON Missense_R73G exm399086 4 52890137 [T/C] NM_000232 SGCB EXON Missense_G315R exm399096 4 52890281 [A/G] NM_000232 SGCB EXON Missense_R267C exm399097 4 52890286 [A/G] NM_000232 SGCB EXON Missense_T265I exm399099 4 52890295 [A/G] NM_000232 SGCB EXON Missense_M262T exm399106 4 52895021 [T/C] NM_000232 SGCB EXON Missense_I166V exm2075604 4 52895074 [T/C] NM_000232 SGCB EXON Missense_Q148R exm399118 4 52895932 [A/G] NM_000232 SGCB EXON Missense_S114F exm399128 4 52899689 [A/G] NM_000232 SGCB EXON Missense_R51C exm399137 4 52926584 [T/G] NM_145263 SPATA18 Silent exm399143 4 52926657 [T/C] NM_145263 SPATA18 EXON Missense_L54F exm399145 4 52926666 [T/A] NM_145263 SPATA18 EXON Missense_I57F exm2075623 4 52926983 [T/C] NM_145263 SPATA18 EXON Missense_R77C exm399158 4 52935998 [T/C] NM_145263 SPATA18 EXON Missense_T145I exm2075627 4 52938091 [A/C] NM_145263 SPATA18 EXON Missense_S176Y exm2275741 4 52938114 [C/G] NM_145263 SPATA18 EXON Missense_R184G exm399159 4 52938115 [A/G] NM_145263 SPATA18 EXON Missense_R184H exm2075630 4 52938139 [A/G] NM_145263 SPATA18 EXON Missense_S192N exm399161 4 52938243 [T/C] NM_145263 SPATA18 EXON Missense_S227P exm399163 4 52938265 [A/G] NM_145263 SPATA18 EXON Missense_R234Q exm399169 4 52942964 [T/C] NM_145263 SPATA18 EXON Missense_P260S exm2275742 4 52942985 [G/C] NM_145263 SPATA18 EXON Missense_R267G exm399171 4 52942986 [A/G] NM_145263 SPATA18 EXON Missense_R267H exm399174 4 52943024 [A/G] NM_145263 SPATA18 EXON Missense_A280T exm399176 4 52943042 [C/G] NM_145263 SPATA18 EXON Missense_P286A exm399178 4 52943061 [A/G] NM_145263 SPATA18 EXON Missense_K292R exm399179 4 52943100 [A/G] NM_145263 SPATA18 EXON Missense_R305Q exm399195 4 52945049 [T/G] NM_145263 SPATA18 EXON Missense_S390I exm399200 4 52945961 [A/G] NM_145263 SPATA18 EXON Missense_V411I exm2075642 4 52948557 [T/C] NM_145263 SPATA18 EXON Missense_R454C exm399211 4 52951089 [T/C] NM_145263 SPATA18 EXON Missense_S496L exm399212 4 52951094 [T/C] NM_145263 SPATA18 EXON Nonsense_R498X exm399214 4 52951113 [A/G] NM_145263 SPATA18 EXON Missense_R504Q exm399216 4 52951137 [A/G] NM_145263 SPATA18 EXON Missense_C512Y exm399218 4 52951142 [T/C] NM_145263 SPATA18 EXON Missense_R514C exm399220 4 52960699 [T/C] NM_145263 SPATA18 EXON Nonsense_R524X exm2265838 4 52983401 [A/G] exm2265699 4 53165940 [A/G] exm-rs346923 4 53412129 [A/G] exm399262 4 53494206 [A/G] NM_001134223,NM_022832 USP46,USP46 EXON Missense_A74V,Missense_A81V exm399339 4 53731655 [T/C] NM_023940 RASL11B EXON Missense_R144W exm399342 4 53731802 [A/G] NM_023940 RASL11B EXON Missense_A193T exm399343 4 53731803 [T/C] NM_023940 RASL11B EXON Missense_A193V exm399356 4 53740210 [A/G] NM_152540 SCFD2 EXON Nonsense_R661X exm399357 4 53740222 [T/C] NM_152540 SCFD2 EXON Missense_V657M exm399362 4 53751937 [C/G] NM_152540 SCFD2 EXON Missense_A647P exm2075704 4 53752023 [T/G] NM_152540 SCFD2 EXON Missense_P618H exm399366 4 53752026 [T/C] NM_152540 SCFD2 EXON Missense_R617Q exm-rs2898681 4 53757000 [A/G] NM_152540 SCFD2 Silent exm2269755 4 53757674 [T/C] NM_152540 SCFD2 Silent exm399372 4 53786965 [T/C] NM_152540 SCFD2 EXON Missense_R545Q exm399373 4 53786966 [A/G] NM_152540 SCFD2 EXON Missense_R545W exm2269919 4 53986846 [T/C] NM_152540 SCFD2 Silent exm399377 4 54011526 [A/G] NM_152540 SCFD2 EXON Missense_L512S exm399383 4 54011587 [A/G] NM_152540 SCFD2 EXON Missense_C492R exm399394 4 54011745 [A/G] NM_152540 SCFD2 EXON Missense_I439T exm2265700 4 54099223 [A/G] NM_152540 SCFD2 Silent exm399400 4 54140057 [G/C] NM_152540 SCFD2 EXON Missense_T416R exm399404 4 54179825 [T/G] NM_152540 SCFD2 EXON Missense_N371K exm399412 4 54179920 [A/C] NM_152540 SCFD2 EXON Missense_A340S exm399417 4 54218834 [A/G] NM_152540 SCFD2 EXON Missense_A313V exm399423 4 54218899 [C/G] NM_152540 SCFD2 EXON Missense_E291D exm399424 4 54218919 [T/G] NM_152540 SCFD2 EXON Missense_H285N exm399425 4 54218924 [A/C] NM_152540 SCFD2 EXON Missense_G283V exm399430 4 54231354 [T/C] NM_152540 SCFD2 EXON Missense_N252S exm399434 4 54231438 [T/C] NM_152540 SCFD2 EXON Missense_S224N exm399438 4 54231541 [G/C] NM_152540 SCFD2 EXON Missense_A190P exm399441 4 54231604 [A/T] NM_152540 SCFD2 EXON Missense_L169M exm399443 4 54231640 [A/G] NM_152540 SCFD2 EXON Missense_P157S exm399447 4 54231870 [A/G] NM_152540 SCFD2 EXON Missense_L80P exm2075735 4 54232051 [T/C] NM_152540 SCFD2 EXON Missense_K20E exm399458 4 54232071 [C/G] NM_152540 SCFD2 EXON Missense_G13A exm399491 4 54257655 [A/G] NM_001134938,NM_030917,NM_001134937 FIP1L1,FIP1L1,FIP1L1 EXON Silent,Missense_N232S,Missense_N217S exm399497 4 54280873 [A/G] NM_001134938,NM_030917,NM_001134937 FIP1L1,FIP1L1,FIP1L1 EXON Silent,Missense_E303K,Missense_E288K exm399537 4 54327211 [T/A] NM_032622,NM_001126328 LNX1,LNX1 Silent,Silent exm2075777 4 54344759 [T/C] NM_032622,NM_001126328 LNX1,LNX1 EXON Missense_I450V,Missense_I546V exm2241097 4 54344840 [T/C] NM_032622,NM_001126328 LNX1,LNX1 EXON Missense_G423S,Missense_G519S exm399559 4 54344855 [A/G] NM_032622,NM_001126328 LNX1,LNX1 EXON Missense_P418S,Missense_P514S exm399566 4 54344908 [T/G] NM_032622,NM_001126328 LNX1,LNX1 EXON Missense_P400H,Missense_P496H exm399568 4 54347946 [T/C] NM_032622,NM_001126328 LNX1,LNX1 EXON Missense_G380S,Missense_G476S exm2075786 4 54347948 [A/G] NM_032622,NM_001126328 LNX1,LNX1 EXON Missense_A379V,Missense_A475V exm2075787 4 54347978 [T/C] NM_032622,NM_001126328 LNX1,LNX1 EXON Missense_R369Q,Missense_R465Q exm399571 4 54347997 [T/C] NM_032622,NM_001126328 LNX1,LNX1 EXON Missense_V363I,Missense_V459I exm399573 4 54348008 [T/C] NM_032622,NM_001126328 LNX1,LNX1 EXON Missense_R359H,Missense_R455H exm399574 4 54348009 [A/G] NM_032622,NM_001126328 LNX1,LNX1 EXON Missense_R359C,Missense_R455C exm399578 4 54362225 [A/G] NM_032622,NM_001126328 LNX1,LNX1 EXON Missense_Y343H,Missense_Y439H exm399579 4 54362257 [T/C] NM_032622,NM_001126328 LNX1,LNX1 EXON Missense_R332H,Missense_R428H exm399581 4 54362297 [T/C] NM_032622,NM_001126328 LNX1,LNX1 EXON Missense_G319S,Missense_G415S exm399586 4 54362372 [T/C] NM_032622,NM_001126328 LNX1,LNX1 EXON Missense_E294K,Missense_E390K exm399589 4 54362434 [T/G] NM_032622,NM_001126328 LNX1,LNX1 EXON Missense_A273D,Missense_A369D exm399592 4 54362456 [A/G] NM_032622,NM_001126328 LNX1,LNX1 EXON Missense_R266C,Missense_R362C exm399594 4 54362515 [T/C] NM_032622,NM_001126328 LNX1,LNX1 EXON Missense_R246H,Missense_R342H exm399595 4 54362516 [A/G] NM_032622,NM_001126328 LNX1,LNX1 EXON Missense_R246C,Missense_R342C exm399610 4 54373579 [A/G] NM_032622,NM_001126328,NR_046622 LNX1,LNX1,LNX1-AS1 EXON Missense_A131V,Missense_A227V,Silent exm399614 4 54373634 [A/G] NM_032622,NM_001126328,NR_046622 LNX1,LNX1,LNX1-AS1 EXON Missense_R113W,Missense_R209W,Silent exm2241099 4 54374306 [T/C] NM_032622,NM_001126328,NR_046622 LNX1,LNX1,LNX1-AS1 EXON Missense_A61T,Missense_A157T,Silent exm399619 4 54374365 [G/C] NM_032622,NM_001126328,NR_046622 LNX1,LNX1,LNX1-AS1 EXON Missense_T41S,Missense_T137S,Silent exm2075803 4 54424055 [G/C] NM_032622,NM_001126328 LNX1,LNX1 EXON Missense_F26L,Silent exm2274011 4 54440142 [A/G] NM_001126328 LNX1 EXON Missense_P10S exm399636 4 54440145 [T/C] NM_001126328 LNX1 EXON Missense_D9N exm399639 4 54440164 [T/G] NM_001126328 LNX1 EXON Missense_N2K exm2265701 4 54632173 [A/G] exm399686 4 54880063 [A/G] NM_012110 CHIC2 EXON Synonymous_L130L exm399710 4 54966545 [A/G] NM_133267 GSX2 EXON Missense_I12V exm399722 4 54966830 [A/G] NM_133267 GSX2 EXON Missense_G107S exm-rs2114039 4 55092626 [T/C] exm399751 4 55127448 [A/G] NM_006206 PDGFRA EXON Missense_G79D exm399759 4 55130065 [C/G] NM_006206 PDGFRA EXON Missense_T200S exm399765 4 55131118 [T/C] NM_006206 PDGFRA EXON Missense_L221F exm399775 4 55133531 [A/G] NM_006206 PDGFRA EXON Missense_E279K exm399787 4 55133806 [A/G] NM_006206 PDGFRA EXON Missense_R340Q exm399789 4 55133886 [A/G] NM_006206 PDGFRA EXON Missense_V367M exm399793 4 55136800 [G/C] NM_006206 PDGFRA EXON Missense_R374S exm399795 4 55136813 [T/G] NM_006206 PDGFRA EXON Missense_L379V exm399800 4 55138608 [A/G] NM_006206 PDGFRA EXON Missense_G429R exm399803 4 55138642 [T/C] NM_006206 PDGFRA EXON Missense_T440M exm399805 4 55138648 [T/C] NM_006206 PDGFRA EXON Missense_L442P exm2241103 4 55139764 [T/G] NM_006206 PDGFRA EXON Missense_E475D exm399810 4 55139771 [T/C] NM_006206 PDGFRA EXON Missense_S478P exm399818 4 55140770 [T/C] NM_006206 PDGFRA EXON Missense_V544A exm399827 4 55143659 [T/C] NM_006206 PDGFRA EXON Missense_P631S exm399838 4 55146556 [T/C] NM_006206 PDGFRA EXON Missense_P744S exm399841 4 55146608 [T/G] NM_006206 PDGFRA EXON Missense_L761R exm399842 4 55146617 [A/G] NM_006206 PDGFRA EXON Missense_R764H exm399877 4 55156564 [A/G] NM_006206 PDGFRA EXON Missense_I989V exm2273391 4 55161517 [A/G] NM_006206 PDGFRA EXON Silent exm-rs17690232 4 55234825 [C/G] exm2261729 4 55245541 [T/C] exm-rs218237 4 55394172 [T/C] exm-rs172629 4 55407762 [C/G] exm399908 4 55561758 [T/G] NM_000222,NM_001093772 KIT,KIT EXON Missense_V50L,Missense_V50L exm2274012 4 55561861 [T/C] NM_000222,NM_001093772 KIT,KIT EXON Missense_T84M,Missense_T84M exm399927 4 55564615 [T/C] NM_000222,NM_001093772 KIT,KIT EXON Missense_A168V,Missense_A168V exm399930 4 55564644 [A/G] NM_000222,NM_001093772 KIT,KIT EXON Missense_A178T,Missense_A178T exm399935 4 55569954 [T/C] NM_000222,NM_001093772 KIT,KIT EXON Missense_T274M,Missense_T274M exm399939 4 55570011 [A/G] NM_000222,NM_001093772 KIT,KIT EXON Missense_N293S,Missense_N293S exm399941 4 55573290 [A/G] NM_000222,NM_001093772 KIT,KIT EXON Missense_M318V,Missense_M318V exm399947 4 55575594 [A/G] NM_000222,NM_001093772 KIT,KIT EXON Missense_V374I,Missense_V374I exm399951 4 55575669 [A/G] NM_000222,NM_001093772 KIT,KIT EXON Missense_V399I,Missense_V399I exm399952 4 55575673 [A/G] NM_000222,NM_001093772 KIT,KIT EXON Missense_N400S,Missense_N400S exm399953 4 55575704 [T/C] NM_000222,NM_001093772 KIT,KIT EXON Synonymous_N410N,Synonymous_N410N exm399957 4 55592027 [T/C] NM_000222,NM_001093772 KIT,KIT EXON Missense_S451P,Missense_S451P exm399963 4 55593431 [A/G] NM_000222,NM_001093772 KIT,KIT EXON Missense_V530I,Missense_V526I exm399964 4 55593437 [A/G] NM_000222,NM_001093772 KIT,KIT EXON Missense_V532I,Missense_V528I exm399965 4 55593464 [A/C] NM_000222,NM_001093772 KIT,KIT EXON Missense_M541L,Missense_M537L exm399968 4 55593628 [T/G] NM_000222,NM_001093772 KIT,KIT EXON Missense_G565V,Missense_G561V exm399995 4 55598164 [T/C] NM_000222,NM_001093772 KIT,KIT EXON Synonymous_N787N,Synonymous_N783N exm400012 4 55604628 [T/C] NM_000222,NM_001093772 KIT,KIT EXON Nonsense_R946X,Nonsense_R942X exm2269757 4 55787043 [T/C] exm400022 4 55946112 [A/G] NM_002253 KDR EXON Missense_V1356A exm400025 4 55946160 [A/G] NM_002253 KDR EXON Missense_A1340V exm400027 4 55946191 [A/T] NM_002253 KDR EXON Missense_I1330L exm400033 4 55946330 [T/A] NM_002253 KDR EXON Synonymous_G1283G exm400044 4 55948714 [A/C] NM_002253 KDR EXON Missense_V1251L exm400058 4 55955548 [A/G] NM_002253 KDR EXON Missense_P1133S exm400067 4 55955969 [T/C] NM_002253 KDR EXON Missense_A1065T exm2076012 4 55961103 [T/C] NM_002253 KDR EXON Missense_R946H exm400084 4 55961818 [T/C] NM_002253 KDR EXON Missense_I915V exm400086 4 55961831 [T/C] NM_002253 KDR EXON Synonymous_G910G exm400087 4 55962403 [A/C] NM_002253 KDR EXON Missense_K907N exm2241111 4 55964373 [T/C] NM_002253 KDR EXON Missense_D814N exm400104 4 55964925 [A/G] NM_002253 KDR EXON Missense_T771M exm400120 4 55968597 [A/G] NM_002253 KDR EXON Missense_T689M exm400123 4 55968651 [T/C] NM_002253 KDR EXON Missense_G671E exm400125 4 55968660 [A/G] NM_002253 KDR EXON Missense_T668M exm400136 4 55971098 [T/C] NM_002253 KDR EXON Missense_V567M exm400144 4 55972029 [T/C] NM_002253 KDR EXON Missense_G539R exm400150 4 55972974 [T/A] NM_002253 KDR EXON Missense_Q472H exm400154 4 55973932 [A/C] NM_002253 KDR EXON Missense_L462V exm2076043 4 55976674 [A/G] NM_002253 KDR EXON Missense_T384M exm400163 4 55976709 [G/C] NM_002253 KDR EXON Missense_E372D exm400166 4 55976857 [A/G] NM_002253 KDR EXON Missense_A352V exm2256648 4 55980239 [T/C] NM_002253 KDR Silent exm400186 4 55981043 [A/G] NM_002253 KDR EXON Missense_V219A exm400187 4 55981047 [T/C] NM_002253 KDR EXON Missense_V218I exm2241115 4 55981531 [T/C] NM_002253 KDR EXON Missense_V136M exm400197 4 55984813 [A/G] NM_002253 KDR EXON Missense_R106W exm400201 4 55984888 [T/C] NM_002253 KDR EXON Missense_D81N exm400205 4 55984931 [T/A] NM_002253 KDR EXON Missense_N66K exm2265839 4 56044260 [A/G] exm400227 4 56230324 [A/G] NM_024592 SRD5A3 EXON Missense_V150I exm400232 4 56233758 [A/C] NM_024592,NR_037969 SRD5A3,SRD5A3-AS1 EXON Missense_Y189S,Silent exm400239 4 56236226 [G/C] NM_024592,NR_037969 SRD5A3,SRD5A3-AS1 EXON Missense_H309D,Silent exm2076118 4 56304494 [T/A] NM_001267843,NM_004898 CLOCK,CLOCK EXON Missense_Q772H,Missense_Q772H exm400288 4 56308660 [T/A] NM_001267843,NM_004898 CLOCK,CLOCK EXON Missense_M682L,Missense_M682L exm400289 4 56308687 [T/C] NM_001267843,NM_004898 CLOCK,CLOCK EXON Missense_G673R,Missense_G673R exm2241120 4 56309862 [T/A] NM_001267843,NM_004898 CLOCK,CLOCK EXON Missense_S632T,Missense_S632T exm400293 4 56309925 [T/C] NM_001267843,NM_004898 CLOCK,CLOCK EXON Missense_M611V,Missense_M611V exm400294 4 56309927 [T/C] NM_001267843,NM_004898 CLOCK,CLOCK EXON Missense_G610E,Missense_G610E exm400295 4 56309937 [T/C] NM_001267843,NM_004898 CLOCK,CLOCK EXON Missense_I607V,Missense_I607V exm400323 4 56319244 [T/G] NM_001267843,NM_004898 CLOCK,CLOCK EXON Missense_L395I,Missense_L395I exm400330 4 56325147 [T/C] NM_001267843,NM_004898 CLOCK,CLOCK EXON Missense_G235E,Missense_G235E exm400335 4 56325365 [C/G] NM_001267843,NM_004898 CLOCK,CLOCK EXON Missense_S208C,Missense_S208C exm400341 4 56329906 [T/C] NM_001267843,NM_004898 CLOCK,CLOCK EXON Missense_I169V,Missense_I169V exm400350 4 56344993 [T/C] NM_001267843,NM_004898 CLOCK,CLOCK EXON Missense_R82Q,Missense_R82Q exm400369 4 56422799 [T/C] NM_152401 PDCL2 EXON Missense_M217I exm400382 4 56436020 [T/C] NM_152401 PDCL2 EXON Missense_R76Q exm2076178 4 56447001 [T/C] NM_152401 PDCL2 EXON Missense_V69I exm400394 4 56465318 [T/C] NM_006681 NMU EXON Missense_I174V exm400399 4 56466734 [T/G] NM_006681 NMU EXON Missense_F148L exm400403 4 56471441 [T/C] NM_006681 NMU Silent exm400410 4 56471515 [A/G] NM_006681 NMU EXON Missense_S121L exm400412 4 56473476 [A/G] NM_006681 NMU EXON Missense_S117P exm400418 4 56475330 [T/C] NM_006681 NMU EXON Missense_E79G exm2265702 4 56621548 [A/G] exm-rs7679852 4 56683846 [T/C] exm2076218 4 56730529 [A/G] NM_001024924,NM_178237,NM_018261 EXOC1,EXOC1,EXOC1 EXON Missense_N131S,Missense_N131S,Missense_N131S exm400444 4 56734526 [A/G] NM_001024924,NM_178237,NM_018261 EXOC1,EXOC1,EXOC1 EXON Missense_Q147R,Missense_Q147R,Missense_Q147R exm400445 4 56734534 [A/G] NM_001024924,NM_178237,NM_018261 EXOC1,EXOC1,EXOC1 EXON Missense_T150A,Missense_T150A,Missense_T150A exm400482 4 56757542 [A/G] NM_001024924,NM_178237,NM_018261 EXOC1,EXOC1,EXOC1 EXON Missense_S534N,Missense_S519N,Missense_S534N exm400492 4 56762938 [A/G] NM_001024924,NM_178237,NM_018261 EXOC1,EXOC1,EXOC1 EXON Missense_G670E,Missense_G655E,Missense_G670E exm400511 4 56818300 [A/G] NM_025009 CEP135 EXON Missense_T2A exm400512 4 56818360 [T/C] NM_025009 CEP135 EXON Missense_R22C exm400514 4 56819279 [T/C] NM_025009 CEP135 EXON Missense_R48W exm2274014 4 56819340 [T/C] NM_025009 CEP135 EXON Missense_L68S exm400520 4 56820411 [T/C] NM_025009 CEP135 EXON Missense_R112C exm400521 4 56820412 [A/G] NM_025009 CEP135 EXON Missense_R112H exm400522 4 56820418 [T/C] NM_025009 CEP135 EXON Missense_T114I exm400526 4 56820474 [A/G] NM_025009 CEP135 EXON Missense_K133E exm400534 4 56825869 [A/C] NM_025009 CEP135 EXON Missense_E212D exm400535 4 56825871 [T/C] NM_025009 CEP135 EXON Missense_V213A exm400541 4 56830467 [T/C] NM_025009 CEP135 EXON Nonsense_R243X exm400546 4 56831973 [C/G] NM_025009 CEP135 EXON Missense_R331T exm400547 4 56831974 [T/A] NM_025009 CEP135 EXON Missense_R331S exm400548 4 56831975 [T/C] NM_025009 CEP135 EXON Missense_H332Y exm400553 4 56835295 [A/G] NM_025009 CEP135 Silent exm400557 4 56837458 [A/G] NM_025009 CEP135 EXON Missense_E378G exm400559 4 56837545 [A/G] NM_025009 CEP135 EXON Missense_S407N exm400563 4 56840969 [A/G] NM_025009 CEP135 EXON Missense_R436Q exm400569 4 56841074 [A/G] NM_025009 CEP135 EXON Missense_R471K exm400571 4 56841097 [A/G] NM_025009 CEP135 EXON Missense_A479T exm400580 4 56847441 [A/G] NM_025009 CEP135 EXON Missense_A559T exm400582 4 56847487 [T/C] NM_025009 CEP135 EXON Missense_A574V exm400585 4 56847510 [A/G] NM_025009 CEP135 EXON Missense_M582V exm400597 4 56865523 [A/G] NM_025009 CEP135 EXON Missense_I689V exm2076294 4 56865573 [T/G] NM_025009 CEP135 EXON Missense_E705D exm400604 4 56874517 [A/C] NM_025009 CEP135 EXON Missense_I769L exm400608 4 56875933 [A/G] NM_025009 CEP135 EXON Missense_R790H exm400613 4 56877606 [T/C] NM_025009 CEP135 EXON Missense_V845A exm400617 4 56878116 [A/G] NM_025009 CEP135 EXON Missense_E923K exm400622 4 56883817 [A/G] NM_025009 CEP135 EXON Missense_I936V exm400627 4 56883982 [A/G] NM_025009 CEP135 EXON Missense_M991V exm400629 4 56884001 [T/C] NM_025009 CEP135 EXON Missense_S997L exm400638 4 56885717 [T/A] NM_025009 CEP135 EXON Nonsense_K1071X exm400639 4 56886856 [A/G] NM_025009 CEP135 EXON Missense_R1077Q exm400642 4 56886891 [T/A] NM_025009 CEP135 EXON Missense_L1089I exm2269922 4 56910860 [T/C] exm2269759 4 56977309 [T/C] exm400653 4 57164405 [T/C] NM_020722 KIAA1211 EXON Missense_R4W exm400655 4 57164441 [A/G] NM_020722 KIAA1211 EXON Missense_G16R exm400656 4 57164505 [A/G] NM_020722 KIAA1211 EXON Missense_K37R exm400659 4 57173713 [A/G] NM_020722 KIAA1211 EXON Missense_K45E exm400661 4 57173735 [A/G] NM_020722 KIAA1211 EXON Missense_R52Q exm400662 4 57173791 [A/G] NM_020722 KIAA1211 EXON Missense_E71K exm400665 4 57173822 [T/C] NM_020722 KIAA1211 EXON Missense_I81T exm400666 4 57173834 [A/G] NM_020722 KIAA1211 EXON Missense_Q85R exm400670 4 57173854 [A/G] NM_020722 KIAA1211 EXON Missense_A92T exm400671 4 57176832 [T/C] NM_020722 KIAA1211 EXON Missense_S96P exm400688 4 57180407 [C/G] NM_020722 KIAA1211 EXON Missense_R247G exm400690 4 57180473 [A/C] NM_020722 KIAA1211 EXON Missense_L269I exm400714 4 57180701 [A/G] NM_020722 KIAA1211 EXON Missense_R345G exm400716 4 57180710 [G/C] NM_020722 KIAA1211 EXON Missense_E348Q exm400717 4 57180739 [C/G] NM_020722 KIAA1211 EXON Missense_E357D exm400725 4 57180920 [A/C] NM_020722 KIAA1211 EXON Missense_Q418K exm400726 4 57180968 [G/C] NM_020722 KIAA1211 EXON Missense_E434Q exm400741 4 57181310 [A/G] NM_020722 KIAA1211 EXON Missense_I548V exm400742 4 57181359 [T/C] NM_020722 KIAA1211 EXON Missense_T564M exm2076352 4 57181407 [T/C] NM_020722 KIAA1211 EXON Missense_P580L exm400756 4 57181632 [G/C] NM_020722 KIAA1211 EXON Missense_R655P exm400758 4 57181769 [A/G] NM_020722 KIAA1211 EXON Missense_G701S exm400766 4 57181833 [T/C] NM_020722 KIAA1211 EXON Missense_M722T exm400771 4 57181995 [T/C] NM_020722 KIAA1211 EXON Missense_S776L exm400776 4 57182294 [A/G] NM_020722 KIAA1211 EXON Missense_G876R exm400780 4 57182331 [T/G] NM_020722 KIAA1211 EXON Missense_S888I exm400782 4 57182448 [A/G] NM_020722 KIAA1211 EXON Missense_R927H exm400797 4 57182667 [T/C] NM_020722 KIAA1211 EXON Missense_P1000L exm400803 4 57182709 [A/G] NM_020722 KIAA1211 EXON Missense_R1014Q exm400812 4 57189549 [T/C] NM_020722 KIAA1211 EXON Missense_P1065L exm2076371 4 57189604 [A/C] NM_020722 KIAA1211 EXON Missense_E1083D exm400814 4 57189623 [A/G] NM_020722 KIAA1211 EXON Missense_I1090V exm400844 4 57204777 [A/C] NM_181806 AASDH EXON Missense_Y1030D exm400856 4 57204945 [A/G] NM_181806 AASDH EXON Missense_S974P exm400862 4 57209071 [T/C] NM_181806 AASDH EXON Missense_C946Y exm400875 4 57211352 [T/C] NM_181806 AASDH EXON Missense_T865A exm400877 4 57211369 [A/G] NM_181806 AASDH EXON Missense_S859L exm400887 4 57215558 [T/C] NM_181806 AASDH EXON Missense_I787V exm400888 4 57215567 [T/C] NM_181806 AASDH EXON Missense_T784A exm400895 4 57215677 [A/G] NM_181806 AASDH EXON Missense_A747V exm400898 4 57215716 [A/G] NM_181806 AASDH EXON Missense_P734L exm400901 4 57215803 [A/G] NM_181806 AASDH EXON Missense_A705V exm400906 4 57215969 [T/C] NM_181806 AASDH EXON Missense_D650N exm400908 4 57215989 [T/G] NM_181806 AASDH EXON Missense_A643D exm400909 4 57215990 [T/C] NM_181806 AASDH EXON Missense_A643T exm400914 4 57216026 [T/C] NM_181806 AASDH EXON Missense_V631I exm400924 4 57219570 [T/C] NM_181806 AASDH EXON Missense_G526S exm400925 4 57219571 [A/G] NM_181806 AASDH EXON Synonymous_H525H exm2256651 4 57219595 [A/G] NM_181806 AASDH EXON Synonymous_I517I exm400934 4 57220222 [T/C] NM_181806 AASDH EXON Missense_I456V exm400936 4 57220269 [A/C] NM_181806 AASDH EXON Missense_L440W exm400939 4 57220347 [T/C] NM_181806 AASDH EXON Missense_D414G exm400943 4 57221348 [T/C] NM_181806 AASDH EXON Missense_K368R exm400956 4 57237688 [T/G] NM_181806 AASDH EXON Missense_T264P exm400958 4 57237713 [A/C] NM_181806 AASDH EXON Missense_S255R exm400964 4 57244314 [A/C] NM_181806 AASDH EXON Missense_R223L exm400969 4 57244392 [A/T] NM_181806 AASDH EXON Missense_H197L exm400971 4 57244414 [C/G] NM_181806 AASDH EXON Missense_H190D exm400972 4 57244449 [T/C] NM_181806 AASDH EXON Missense_E178G exm400984 4 57244512 [A/T] NM_181806 AASDH EXON Missense_D157V exm400993 4 57248659 [T/C] NM_181806 AASDH EXON Missense_E112G exm400996 4 57248714 [A/G] NM_181806 AASDH EXON Missense_P94S exm400997 4 57248716 [C/G] NM_181806 AASDH EXON Missense_P93R exm401005 4 57250285 [T/C] NM_181806 AASDH EXON Missense_I61V exm401006 4 57250291 [A/G] NM_181806 AASDH EXON Missense_R59W exm401010 4 57250442 [A/T] NM_181806 AASDH EXON Missense_H8Q exm2256652 4 57261656 [A/C] NM_002703 PPAT EXON Synonymous_G472G exm401033 4 57267029 [A/G] NM_002703 PPAT EXON Missense_I312T exm401036 4 57267503 [T/C] NM_002703 PPAT EXON Missense_M293I exm401075 4 57307919 [A/G] NM_006452,NM_001079524,NM_001079525 PAICS,PAICS,PAICS EXON Missense_K36R,Missense_K36R,Missense_K36R exm401077 4 57307970 [A/G] NM_006452,NM_001079524,NM_001079525 PAICS,PAICS,PAICS EXON Missense_K53R,Missense_K53R,Missense_K53R exm401085 4 57313029 [T/C] NM_006452,NM_001079524,NM_001079525 PAICS,PAICS,PAICS EXON Missense_L128S,Missense_L128S,Missense_L135S exm401086 4 57314612 [G/C] NM_006452,NM_001079524,NM_001079525 PAICS,PAICS,PAICS EXON Missense_S141C,Missense_S141C,Missense_S148C exm401095 4 57314905 [A/C] NM_006452,NM_001079524,NM_001079525 PAICS,PAICS,PAICS EXON Missense_K201N,Missense_K201N,Missense_K208N exm401104 4 57318182 [T/C] NM_006452,NM_001079524,NM_001079525 PAICS,PAICS,PAICS EXON Missense_P306S,Missense_P306S,Missense_P313S exm401125 4 57333859 [T/C] NM_006947,NM_001267722 SRP72,SRP72 EXON Missense_R20W,Missense_R20W exm401129 4 57335830 [A/C] NM_006947,NM_001267722 SRP72,SRP72 EXON Missense_N41H,Missense_N41H exm401133 4 57335900 [T/C] NM_006947,NM_001267722 SRP72,SRP72 EXON Missense_A64V,Missense_A64V exm401142 4 57340359 [T/C] NM_006947,NM_001267722 SRP72,SRP72 EXON Missense_V165A,Missense_V165A exm401152 4 57344588 [A/G] NM_006947,NM_001267722 SRP72,SRP72 EXON Missense_H229R,Silent exm401166 4 57350915 [A/G] NM_006947,NM_001267722 SRP72,SRP72 EXON Missense_R324H,Missense_R263H exm2076507 4 57355623 [A/G] NM_006947,NM_001267722 SRP72,SRP72 EXON Missense_A432T,Missense_A371T exm401173 4 57355648 [A/G] NM_006947,NM_001267722 SRP72,SRP72 EXON Missense_Q440R,Missense_Q379R exm401177 4 57356577 [A/G] NM_006947,NM_001267722 SRP72,SRP72 EXON Missense_I467V,Missense_I406V exm2076512 4 57357683 [T/C] NM_006947,NM_001267722 SRP72,SRP72 EXON Missense_I530T,Missense_I469T exm401203 4 57384859 [A/C] NM_206919 ARL9 EXON Missense_P11H exm401205 4 57384865 [A/G] NM_206919 ARL9 EXON Missense_R13Q exm401210 4 57384936 [T/C] NM_206919 ARL9 EXON Nonsense_R37X exm401215 4 57389897 [A/G] NM_206919 ARL9 EXON Missense_H76R exm401222 4 57514924 [C/G] NM_001145459,NM_139212,NM_001145460,NM_139211,NM_032495 HOPX,HOPX,HOPX,HOPX,HOPX EXON Missense_E62Q,Missense_E62Q,Silent,Missense_E62Q,Missense_E80Q exm401224 4 57514947 [T/C] NM_001145459,NM_139212,NM_001145460,NM_139211,NM_032495 HOPX,HOPX,HOPX,HOPX,HOPX EXON Missense_R54H,Missense_R54H,Silent,Missense_R54H,Missense_R72H exm401226 4 57516849 [T/C] NM_001145459,NM_139212,NM_001145460,NM_139211,NM_032495 HOPX,HOPX,HOPX,HOPX,HOPX EXON Silent,Silent,Missense_E110K,Silent,Silent exm401228 4 57516896 [A/G] NM_001145459,NM_139212,NM_001145460,NM_139211,NM_032495 HOPX,HOPX,HOPX,HOPX,HOPX EXON Silent,Silent,Missense_P94L,Silent,Silent exm2265703 4 57565153 [A/G] exm401274 4 57777078 [A/G] NM_005612,NM_001193508 REST,REST EXON Missense_G92R,Missense_G92R exm401282 4 57777171 [G/C] NM_005612,NM_001193508 REST,REST EXON Missense_P123A,Missense_P123A exm401285 4 57777226 [C/G] NM_005612,NM_001193508 REST,REST EXON Missense_P141R,Missense_P141R exm401328 4 57796619 [A/G] NM_005612,NM_001193508 REST,REST EXON Missense_G532D,Missense_G532D exm401329 4 57796639 [T/C] NM_005612,NM_001193508 REST,REST EXON Missense_S539P,Missense_S539P exm401334 4 57796664 [T/C] NM_005612,NM_001193508 REST,REST EXON Missense_V547A,Missense_V547A exm401343 4 57796900 [A/G] NM_005612,NM_001193508 REST,REST EXON Missense_V626I,Missense_V626I exm401344 4 57796913 [T/C] NM_005612,NM_001193508 REST,REST EXON Missense_P630L,Missense_P630L exm401348 4 57796957 [T/C] NM_005612,NM_001193508 REST,REST EXON Missense_R645W,Missense_R645W exm401350 4 57796970 [A/G] NM_005612,NM_001193508 REST,REST EXON Missense_D649G,Missense_D649G exm401355 4 57797037 [T/G] NM_005612,NM_001193508 REST,REST EXON Missense_E671D,Missense_E671D exm401358 4 57797089 [T/C] NM_005612,NM_001193508 REST,REST EXON Missense_P689S,Missense_P689S exm401359 4 57797100 [T/G] NM_005612,NM_001193508 REST,REST EXON Missense_E692D,Missense_E692D exm401375 4 57797350 [G/C] NM_005612,NM_001193508 REST,REST EXON Missense_P776A,Missense_P776A exm401383 4 57797414 [T/C] NM_005612,NM_001193508 REST,REST EXON Missense_P797L,Missense_P797L exm401387 4 57797467 [T/C] NM_005612,NM_001193508 REST,REST EXON Missense_P815S,Missense_P815S exm401390 4 57797510 [A/G] NM_005612,NM_001193508 REST,REST EXON Missense_E829G,Missense_E829G exm401399 4 57797759 [A/C] NM_005612,NM_001193508 REST,REST EXON Missense_N912T,Missense_N912T exm2076591 4 57797875 [A/G] NM_005612,NM_001193508 REST,REST EXON Missense_T951A,Missense_T951A exm401405 4 57797879 [A/G] NM_005612,NM_001193508 REST,REST EXON Missense_D952G,Missense_D952G exm2256654 4 57798174 [G/C] NM_005612,NM_001193508 REST,REST EXON Synonymous_A1050A,Synonymous_A1050A exm-rs708547 4 57821309 [T/C] exm-rs17081935 4 57823476 [T/C] exm401423 4 57829675 [T/C] NM_032313 NOA1 EXON Missense_K680E exm401425 4 57829704 [T/C] NM_032313 NOA1 EXON Missense_R670H exm401430 4 57829782 [T/C] NM_032313 NOA1 EXON Missense_R644Q exm401432 4 57830655 [A/G] NM_032313 NOA1 EXON Missense_P601L exm401443 4 57839314 [A/G] NM_032313 NOA1 EXON Synonymous_C505C exm401446 4 57839405 [T/C] NM_032313 NOA1 EXON Missense_H475R exm401454 4 57840159 [T/C] NM_032313 NOA1 EXON Missense_I392V exm401473 4 57843252 [A/G] NM_032313 NOA1 EXON Missense_T167M exm401474 4 57843291 [C/G] NM_032313 NOA1 EXON Missense_G154A exm401488 4 57843607 [G/C] NM_032313 NOA1 EXON Missense_G49R exm401492 4 57843684 [A/G] NM_032313 NOA1 EXON Missense_A23V exm401494 4 57843732 [T/G] NM_032313 NOA1 EXON Missense_P7Q exm401509 4 57860577 [A/G] NM_000938 POLR2B EXON Missense_Y84C exm2076638 4 57860862 [T/G] NM_000938 POLR2B EXON Missense_G136C exm2256655 4 57871486 [A/G] NM_000938 POLR2B EXON Synonymous_G325G exm2276861 4 57889873 [A/C] NM_000938 POLR2B EXON Synonymous_R938R exm401577 4 57897491 [T/C] NM_001553 IGFBP7 EXON Missense_E281K exm401579 4 57898616 [A/C] NM_001553,NM_001253835 IGFBP7,IGFBP7 EXON Missense_L269V,Missense_L269V exm401584 4 57899380 [T/C] NM_001553,NM_001253835 IGFBP7,IGFBP7 EXON Missense_E228G,Missense_E228G exm401585 4 57899425 [T/C] NM_001553,NM_001253835 IGFBP7,IGFBP7 EXON Missense_R213Q,Missense_R213Q exm401596 4 57907088 [G/C] NM_001553,NM_001253835 IGFBP7,IGFBP7 EXON Missense_V163L,Missense_V163L exm2256656 4 57953278 [A/C] NM_001553,NM_001253835 IGFBP7,IGFBP7 Silent,Silent exm2269923 4 58064464 [T/C] NR_034081 LOC255130 Silent exm2261733 4 58603583 [A/G] exm2256659 4 58694609 [A/G] exm-rs10517437 4 59008412 [A/G] exm2269760 4 59630002 [T/C] exm2269761 4 59812420 [T/G] exm2265841 4 59838120 [A/G] exm2265707 4 60739796 [A/G] exm-rs10517480 4 60748829 [A/T] exm2264093 4 60960273 [A/C] exm2269924 4 61258122 [T/C] exm2265708 4 61370159 [A/G] exm-rs12650513 4 61560936 [A/G] exm-rs10866111 4 61900046 [A/G] exm-rs4599440 4 61966273 [T/C] exm2256668 4 61978764 [A/C] exm2265709 4 62136915 [A/G] exm2269925 4 62256581 [T/C] exm-rs6856328 4 62437318 [G/C] NM_015236 LPHN3 Silent exm-rs2172802 4 62453209 [A/G] NM_015236 LPHN3 Silent exm401648 4 62599227 [A/G] NM_015236 LPHN3 EXON Missense_V384I exm401657 4 62758425 [T/C] NM_015236 LPHN3 EXON Missense_T443I exm401660 4 62758491 [A/G] NM_015236 LPHN3 EXON Missense_R465Q exm401663 4 62758583 [A/G] NM_015236 LPHN3 EXON Missense_E496K exm401666 4 62758596 [T/C] NM_015236 LPHN3 EXON Missense_A500V exm2269762 4 62759270 [T/C] NM_015236 LPHN3 Silent exm401671 4 62761464 [T/C] NM_015236 LPHN3 EXON Missense_L532P exm401674 4 62775333 [T/G] NM_015236 LPHN3 EXON Missense_R580I exm401682 4 62800624 [A/G] NM_015236 LPHN3 EXON Missense_T659A exm401690 4 62801682 [A/G] NM_015236 LPHN3 EXON Missense_D712N exm401697 4 62812764 [T/C] NM_015236 LPHN3 EXON Missense_T783M exm401711 4 62845461 [G/C] NM_015236 LPHN3 EXON Missense_L928V exm401714 4 62845490 [A/G] NM_015236 LPHN3 EXON Synonymous_P937P exm401717 4 62849165 [T/C] NM_015236 LPHN3 EXON Missense_F959S exm401718 4 62849203 [A/G] NM_015236 LPHN3 EXON Missense_V972I exm401719 4 62849225 [A/G] NM_015236 LPHN3 EXON Missense_R979H exm401742 4 62936092 [A/C] NM_015236 LPHN3 EXON Missense_N1292K exm401755 4 62936601 [T/C] NM_015236 LPHN3 EXON Missense_P1462L exm2269926 4 63448482 [T/C] exm2265842 4 63722833 [A/G] exm2269763 4 63895857 [T/C] exm2264057 4 64322072 [A/C] exm2269764 4 64933220 [T/G] exm2264094 4 64961101 [A/C] exm401761 4 65147217 [A/G] NM_001010874 TECRL EXON Missense_V298A exm401763 4 65147266 [A/C] NM_001010874 TECRL EXON Missense_C282G exm401770 4 65155428 [T/C] NM_001010874 TECRL EXON Missense_G278R exm401777 4 65165727 [T/C] NM_001010874 TECRL EXON Missense_N247D exm401781 4 65170892 [A/G] NM_001010874 TECRL EXON Missense_T241I exm401788 4 65180381 [T/C] NM_001010874 TECRL EXON Missense_R179H exm401790 4 65180463 [T/C] NM_001010874 TECRL EXON Missense_T152A exm2077056 4 65188433 [T/G] NM_001010874 TECRL EXON Missense_L137I exm2077064 4 65274898 [T/C] NM_001010874 TECRL EXON Missense_T58A exm401816 4 65274937 [A/G] NM_001010874 TECRL EXON Missense_P45S exm401819 4 65275037 [T/A] NM_001010874 TECRL EXON Missense_E11D exm2261742 4 65282211 [T/G] exm2269765 4 65549349 [T/C] exm2265711 4 65712811 [A/G] exm401826 4 66189846 [A/T] NM_182472,NM_004439 EPHA5,EPHA5 EXON Missense_M1012L,Missense_M1034L exm401827 4 66189849 [T/C] NM_182472,NM_004439 EPHA5,EPHA5 EXON Missense_G1011R,Missense_G1033R exm2241173 4 66197823 [T/C] NM_182472,NM_004439 EPHA5,EPHA5 EXON Missense_H937R,Missense_H959R exm401841 4 66197824 [C/G] NM_182472,NM_004439 EPHA5,EPHA5 EXON Missense_H937D,Missense_H959D exm2077168 4 66201684 [T/G] NM_182472,NM_004439 EPHA5,EPHA5 EXON Missense_S918R,Missense_S940R exm401867 4 66217267 [C/G] NM_182472,NM_004439 EPHA5,EPHA5 EXON Missense_G761A,Missense_G783A exm401879 4 66231683 [T/A] NM_182472,NM_004439 EPHA5,EPHA5 EXON Missense_S651T,Missense_S673T exm401880 4 66231686 [T/C] NM_182472,NM_004439 EPHA5,EPHA5 EXON Missense_A650T,Missense_A672T exm2269928 4 66232761 [T/G] NM_182472,NM_004439 EPHA5,EPHA5 Silent,Silent exm401889 4 66242763 [A/C] NM_182472,NM_004439 EPHA5,EPHA5 EXON Silent,Missense_C603W exm401896 4 66270156 [A/C] NM_182472,NM_004439 EPHA5,EPHA5 EXON Missense_A576S,Missense_A576S exm401907 4 66286206 [A/G] NM_182472,NM_004439 EPHA5,EPHA5 EXON Missense_R494C,Missense_R494C exm2077204 4 66356269 [T/C] NM_182472,NM_004439 EPHA5,EPHA5 EXON Missense_G410S,Missense_G410S exm2256681 4 66366103 [A/G] NM_182472,NM_004439 EPHA5,EPHA5 Silent,Silent exm401934 4 66467418 [A/C] NM_182472,NM_004439 EPHA5,EPHA5 EXON Missense_V284G,Missense_V284G exm401938 4 66467556 [T/C] NM_182472,NM_004439 EPHA5,EPHA5 EXON Missense_R238Q,Missense_R238Q exm2241176 4 66467566 [A/C] NM_182472,NM_004439 EPHA5,EPHA5 EXON Missense_S235A,Missense_S235A exm401941 4 66467644 [T/C] NM_182472,NM_004439 EPHA5,EPHA5 EXON Missense_G209R,Missense_G209R exm401955 4 66509085 [T/G] NM_182472,NM_004439 EPHA5,EPHA5 EXON Missense_N81T,Missense_N81T exm401961 4 66535316 [A/C] NM_182472,NM_004439 EPHA5,EPHA5 EXON Missense_A49S,Missense_A49S exm2269766 4 66773365 [T/C] exm2269929 4 67236293 [T/G] exm2265713 4 67358897 [A/G] exm2269930 4 67716733 [T/C] exm-rs1155865 4 67733857 [A/G] exm2269767 4 67831581 [T/G] exm-rs10518025 4 68064440 [T/C] exm2269768 4 68219296 [T/C] exm401975 4 68340623 [A/G] NM_001812 CENPC1 EXON Missense_S915L exm401983 4 68358623 [T/C] NM_001812 CENPC1 EXON Missense_N795D exm401987 4 68359617 [G/C] NM_001812 CENPC1 EXON Missense_Q759E exm401999 4 68370977 [T/A] NM_001812 CENPC1 EXON Missense_Y693N exm402000 4 68372537 [T/C] NM_001812 CENPC1 EXON Missense_G674R exm402006 4 68374538 [T/C] NM_001812 CENPC1 EXON Missense_C633Y exm402018 4 68378206 [A/G] NM_001812 CENPC1 EXON Missense_V509A exm402023 4 68378287 [A/C] NM_001812 CENPC1 EXON Missense_G482V exm2277281 4 68379865 [T/A] NM_001812 CENPC1 EXON Missense_N457K exm402033 4 68380070 [T/C] NM_001812 CENPC1 EXON Missense_G389D exm402043 4 68383937 [T/C] NM_001812 CENPC1 EXON Missense_R256Q exm402058 4 68385211 [T/C] NM_001812 CENPC1 EXON Missense_H114R exm402064 4 68405569 [G/C] NM_001812 CENPC1 EXON Missense_P74A exm2241182 4 68405587 [T/C] NM_001812 CENPC1 EXON Missense_D68N exm402068 4 68405599 [A/G] NM_001812 CENPC1 EXON Missense_R64C exm402073 4 68406742 [T/C] NM_001812 CENPC1 EXON Missense_G31D exm402077 4 68411056 [G/C] NM_001812 CENPC1 EXON Synonymous_L6L exm402082 4 68424532 [A/T] NM_012108 STAP1 EXON Missense_M2K exm402083 4 68424562 [A/G] NM_012108 STAP1 EXON Missense_R12H exm402112 4 68447185 [T/C] NM_012108 STAP1 EXON Missense_P176S exm-rs2242330 4 68447249 [A/G] NM_012108 STAP1 Silent exm402116 4 68449348 [G/C] NM_012108 STAP1 EXON Missense_S196C exm402117 4 68449380 [A/G] NM_012108 STAP1 EXON Missense_D207N exm402130 4 68484738 [A/G] NM_018227 UBA6 EXON Missense_Y1046H exm402131 4 68484770 [T/C] NM_018227 UBA6 EXON Missense_D1035G exm402134 4 68484837 [A/C] NM_018227 UBA6 EXON Missense_V1013L exm2077389 4 68488583 [T/C] NM_018227 UBA6 EXON Missense_V997I exm402149 4 68490785 [T/C] NM_018227 UBA6 EXON Missense_R880H exm402157 4 68496234 [T/G] NM_018227 UBA6 EXON Missense_N760H exm402162 4 68497589 [T/C] NM_018227 UBA6 EXON Missense_R727Q exm402168 4 68499169 [A/G] NM_018227 UBA6 EXON Missense_L679S exm402170 4 68499181 [A/C] NM_018227 UBA6 EXON Missense_S675I exm402171 4 68499985 [T/C] NM_018227 UBA6 EXON Missense_Y663C exm402185 4 68504780 [T/A] NM_018227 UBA6 EXON Missense_D539E exm402217 4 68534392 [T/C] NM_018227 UBA6 EXON Missense_A224T exm402222 4 68539437 [T/C] NM_018227 UBA6 EXON Missense_R175H exm2256689 4 68547847 [A/T] NM_018227 UBA6 EXON Synonymous_G73G exm402235 4 68547876 [T/C] NM_018227 UBA6 EXON Missense_V64I exm402241 4 68562401 [T/C] NM_018227 UBA6 EXON Missense_M32I exm402248 4 68566823 [A/C] NM_018227 UBA6 EXON Missense_E5D exm402259 4 68606400 [T/C] NM_001012763,NM_000406 GNRHR,GNRHR EXON Synonymous_T219T,Missense_R262Q exm402261 4 68610286 [T/C] NM_001012763,NM_000406 GNRHR,GNRHR EXON Missense_R205Q,Missense_E248K exm402263 4 68610309 [T/C] NM_001012763,NM_000406 GNRHR,GNRHR EXON Synonymous_T197T,Missense_R240Q exm2269931 4 68618451 [T/C] NM_001012763,NM_000406 GNRHR,GNRHR Silent,Silent exm402279 4 68619618 [A/G] NM_001012763,NM_000406 GNRHR,GNRHR EXON Missense_P146S,Missense_P146S exm402281 4 68619638 [T/C] NM_001012763,NM_000406 GNRHR,GNRHR EXON Missense_R139H,Missense_R139H exm402285 4 68619737 [T/C] NM_001012763,NM_000406 GNRHR,GNRHR EXON Missense_Q106R,Missense_Q106R exm2275745 4 68619981 [T/G] NM_001012763,NM_000406 GNRHR,GNRHR EXON Missense_Q25K,Missense_Q25K exm402311 4 68691516 [T/A] NM_004262 TMPRSS11D EXON Nonsense_Y343X exm402312 4 68691527 [A/G] NM_004262 TMPRSS11D EXON Missense_P340S exm402324 4 68699000 [T/C] NM_004262 TMPRSS11D EXON Missense_R205Q exm402338 4 68704012 [A/G] NM_004262 TMPRSS11D EXON Missense_M118T exm402340 4 68704036 [T/C] NM_004262 TMPRSS11D EXON Missense_S110N exm402354 4 68725392 [T/C] NM_004262 TMPRSS11D EXON Missense_A5T exm402365 4 68777174 [A/C] NM_182606,NM_001114387 TMPRSS11A,TMPRSS11A EXON Missense_W384C,Missense_W381C exm402372 4 68780338 [T/C] NM_182606,NM_001114387 TMPRSS11A,TMPRSS11A EXON Missense_G358R,Missense_G355R exm2265714 4 68780399 [A/G] NM_182606,NM_001114387 TMPRSS11A,TMPRSS11A EXON Synonymous_D337D,Synonymous_D334D exm402377 4 68780407 [T/C] NM_182606,NM_001114387 TMPRSS11A,TMPRSS11A EXON Missense_I335V,Missense_I332V exm402378 4 68780409 [A/G] NM_182606,NM_001114387 TMPRSS11A,TMPRSS11A EXON Missense_I334T,Missense_I331T exm402379 4 68780427 [T/C] NM_182606,NM_001114387 TMPRSS11A,TMPRSS11A EXON Missense_R328Q,Missense_R325Q exm402386 4 68784750 [A/G] NM_182606,NM_001114387 TMPRSS11A,TMPRSS11A EXON Missense_A301V,Missense_A298V exm402387 4 68784774 [T/C] NM_182606,NM_001114387 TMPRSS11A,TMPRSS11A EXON Missense_Q293R,Missense_Q290R exm402388 4 68784777 [T/C] NM_182606,NM_001114387 TMPRSS11A,TMPRSS11A EXON Missense_R292H,Missense_R289H exm2256691 4 68784788 [T/C] NM_182606,NM_001114387 TMPRSS11A,TMPRSS11A EXON Synonymous_S288S,Synonymous_S285S exm402391 4 68784788 [T/C] NM_182606,NM_001114387 TMPRSS11A,TMPRSS11A EXON Synonymous_S288S,Synonymous_S285S exm402392 4 68784800 [T/G] NM_182606,NM_001114387 TMPRSS11A,TMPRSS11A EXON Missense_R284S,Missense_R281S exm402402 4 68784885 [A/C] NM_182606,NM_001114387 TMPRSS11A,TMPRSS11A EXON Missense_R256I,Missense_R253I exm2077510 4 68788616 [A/G] NM_182606,NM_001114387 TMPRSS11A,TMPRSS11A EXON Synonymous_N186N,Synonymous_N183N exm402419 4 68797711 [A/G] NM_182606,NM_001114387 TMPRSS11A,TMPRSS11A EXON Missense_T110I,Missense_T107I exm402424 4 68810256 [T/C] NM_182606,NM_001114387 TMPRSS11A,TMPRSS11A EXON Missense_R78Q,Missense_R78Q exm402428 4 68810346 [T/C] NM_182606,NM_001114387 TMPRSS11A,TMPRSS11A EXON Missense_K48R,Missense_K48R exm402431 4 68812237 [T/C] NM_182606,NM_001114387 TMPRSS11A,TMPRSS11A EXON Missense_V22I,Missense_V22I exm402433 4 68829108 [T/C] NM_182606,NM_001114387 TMPRSS11A,TMPRSS11A EXON Missense_M2V,Missense_M2V exm402434 4 68829109 [T/C] NM_182606,NM_001114387 TMPRSS11A,TMPRSS11A EXON Missense_M1I,Missense_M1I exm402444 4 68919650 [T/G] NM_207407,NR_046116 TMPRSS11F,LOC550113 EXON Missense_I432L,Silent exm402445 4 68919658 [T/C] NM_207407,NR_046116 TMPRSS11F,LOC550113 EXON Missense_R429Q,Silent exm2077519 4 68919754 [T/C] NM_207407,NR_046116 TMPRSS11F,LOC550113 EXON Missense_N397S,Silent exm402450 4 68925075 [T/C] NM_207407,NR_046116 TMPRSS11F,LOC550113 EXON Missense_G376E,Silent exm402451 4 68925094 [A/G] NM_207407,NR_046116 TMPRSS11F,LOC550113 EXON Missense_P370S,Silent exm402487 4 68930453 [A/G] NM_207407,NR_046116 TMPRSS11F,LOC550113 EXON Missense_P322L,Silent exm402488 4 68930465 [A/G] NM_207407,NR_046116 TMPRSS11F,LOC550113 EXON Missense_S318F,Silent exm402491 4 68930510 [A/G] NM_207407,NR_046116 TMPRSS11F,LOC550113 EXON Missense_V303A,Silent exm402497 4 68930606 [A/G] NM_207407,NR_046116 TMPRSS11F,LOC550113 EXON Missense_A271V,Silent exm402505 4 68934462 [T/C] NM_207407,NR_046116 TMPRSS11F,LOC550113 EXON Missense_R210K,Silent exm402506 4 68934486 [T/G] NM_207407,NR_046116 TMPRSS11F,LOC550113 EXON Missense_S202Y,Silent exm402515 4 68938041 [A/G] NM_207407,NR_046116 TMPRSS11F,LOC550113 EXON Missense_P172S,Silent exm402516 4 68938049 [T/C] NM_207407,NR_046116 TMPRSS11F,LOC550113 EXON Missense_R169K,Silent exm402520 4 68938185 [T/C] NM_207407,NR_046116 TMPRSS11F,LOC550113 EXON Missense_D124N,Silent exm402528 4 68964683 [A/G] NM_207407 TMPRSS11F EXON Missense_R29W exm402530 4 68964724 [T/C] NM_207407 TMPRSS11F EXON Missense_R15Q exm402533 4 68964752 [T/C] NM_207407 TMPRSS11F EXON Missense_V6I exm402537 4 68995528 [A/G] NM_207407 TMPRSS11F EXON Missense_A4V exm402538 4 68995529 [T/C] NM_207407 TMPRSS11F EXON Missense_A4T exm402548 4 69078113 [T/C] NR_015446,NM_001129907 FTLP10,TMPRSS11BNL EXON Silent,Missense_T31A exm402549 4 69078151 [A/G] NR_015446,NM_001129907 FTLP10,TMPRSS11BNL EXON Silent,Missense_A18V exm402556 4 69093763 [A/G] NM_182502 TMPRSS11B EXON Missense_P373S exm402558 4 69093792 [T/C] NM_182502 TMPRSS11B Silent exm402559 4 69094459 [A/C] NM_182502 TMPRSS11B Silent exm402563 4 69094507 [T/A] NM_182502 TMPRSS11B EXON Missense_T348S exm402566 4 69094575 [T/G] NM_182502 TMPRSS11B EXON Missense_D325A exm402568 4 69094981 [T/C] NM_182502 TMPRSS11B EXON Missense_M314V exm402570 4 69095002 [T/C] NM_182502 TMPRSS11B EXON Missense_T307A exm402574 4 69095061 [T/C] NM_182502 TMPRSS11B EXON Missense_R287H exm402575 4 69095062 [A/G] NM_182502 TMPRSS11B EXON Missense_R287C exm402577 4 69095086 [A/C] NM_182502 TMPRSS11B EXON Nonsense_E279X exm402581 4 69095169 [T/C] NM_182502 TMPRSS11B EXON Missense_R251Q exm402582 4 69095170 [A/G] NM_182502 TMPRSS11B EXON Missense_R251W exm402583 4 69095197 [T/C] NM_182502 TMPRSS11B EXON Missense_I242V exm402591 4 69097021 [A/G] NM_182502 TMPRSS11B EXON Missense_W196R exm402601 4 69098135 [A/C] NM_182502 TMPRSS11B Silent exm402603 4 69100196 [A/G] NM_182502 TMPRSS11B EXON Missense_S152P exm402605 4 69100223 [T/C] NM_182502 TMPRSS11B EXON Missense_M143V exm2256692 4 69148628 [T/G] exm402698 4 69203080 [T/C] NM_001031732,NM_133370 YTHDC1,YTHDC1 EXON Missense_H183R,Missense_H183R exm402704 4 69203342 [T/C] NM_001031732,NM_133370 YTHDC1,YTHDC1 EXON Missense_R136Q,Missense_R136Q exm402708 4 69203397 [A/C] NM_001031732,NM_133370 YTHDC1,YTHDC1 EXON Missense_S118A,Missense_S118A exm402712 4 69203426 [T/C] NM_001031732,NM_133370 YTHDC1,YTHDC1 EXON Missense_R108H,Missense_R108H exm402741 4 69337325 [G/C] NM_014058 TMPRSS11E EXON Missense_H158Q exm402753 4 69342021 [A/G] NM_014058 TMPRSS11E EXON Missense_R191K exm402757 4 69342156 [T/C] NM_014058 TMPRSS11E EXON Missense_T236I exm402758 4 69342157 [G/C] NM_014058 TMPRSS11E Silent exm402763 4 69343287 [A/G] NM_014058 TMPRSS11E EXON Missense_Y303C exm402776 4 69362409 [T/C] NM_014058 TMPRSS11E EXON Missense_Y387H exm402784 4 69403498 [T/C] NM_001077 UGT2B17 EXON Missense_A480T exm402787 4 69403544 [T/C] NM_001077 UGT2B17 EXON Nonsense_W464X exm402835 4 69433763 [A/T] NM_001077 UGT2B17 EXON Missense_D147V exm2241199 4 69434042 [A/G] NM_001077 UGT2B17 EXON Missense_I54T exm2269770 4 69591612 [T/C] exm403006 4 69687987 [A/C] NM_001144767,NM_001075 UGT2B10,UGT2B10 Silent,Silent exm403009 4 69688011 [A/G] NM_001144767,NM_001075 UGT2B10,UGT2B10 EXON Missense_S213N,Missense_S297N exm403025 4 69692209 [T/C] NM_001144767,NM_001075 UGT2B10,UGT2B10 EXON Missense_L277F,Missense_L361F exm2077721 4 69693267 [A/G] NM_001144767,NM_001075 UGT2B10,UGT2B10 Silent,Silent exm403042 4 69696430 [T/C] NM_001144767,NM_001075 UGT2B10,UGT2B10 EXON Missense_H390Y,Missense_H474Y exm403074 4 69796263 [T/C] NM_024743,NR_024010 UGT2A3,UGT2A3 Silent,Silent exm403078 4 69796319 [T/A] NM_024743,NR_024010 UGT2A3,UGT2A3 EXON Missense_T417S,Silent exm403087 4 69796468 [T/C] NM_024743,NR_024010 UGT2A3,UGT2A3 EXON Missense_K367R,Silent exm403090 4 69796909 [A/G] NM_024743,NR_024010 UGT2A3,UGT2A3 EXON Missense_R350W,Silent exm403106 4 69811110 [A/C] NM_024743,NR_024010 UGT2A3,UGT2A3 EXON Missense_W260G,Silent exm403107 4 69811118 [T/C] NM_024743,NR_024010 UGT2A3,UGT2A3 EXON Missense_R257Q,Silent exm2256693 4 69816909 [C/G] NM_024743,NR_024010 UGT2A3,UGT2A3 EXON Synonymous_S190S,Silent exm2241207 4 69817121 [T/C] NM_024743,NR_024010 UGT2A3,UGT2A3 EXON Missense_T120A,Silent exm2265843 4 69829222 [A/G] exm403154 4 69874575 [A/G] NM_001144767,NM_001075 UGT2B10,UGT2B10 EXON Missense_H342Y,Missense_H426Y exm403183 4 69885807 [T/G] NM_001144767,NM_001075 UGT2B10,UGT2B10 EXON Missense_K88T,Missense_K88T exm403192 4 69962375 [T/C] NM_001074 UGT2B7 EXON Missense_L46P exm403199 4 69962449 [T/G] NM_001074 UGT2B7 EXON Missense_A71S exm403204 4 69962559 [T/A] NM_001074 UGT2B7 EXON Missense_L107F exm403211 4 69962774 [T/C] NM_001074 UGT2B7 EXON Missense_T179I exm403213 4 69962818 [A/G] NM_001074 UGT2B7 EXON Missense_V194I exm403240 4 69972925 [A/T] NM_001074 UGT2B7 EXON Missense_D345E exm403244 4 69973832 [A/T] NM_001074 UGT2B7 EXON Missense_T368S exm2077856 4 70152488 [T/C] NM_001207004,NM_053039 UGT2B28,UGT2B28 EXON Nonsense_Q297X,Nonsense_Q297X exm2241221 4 70346408 [A/G] NM_021139 UGT2B4 EXON Missense_C511R exm403516 4 70352362 [T/C] NM_021139 UGT2B4 EXON Missense_R352Q exm403527 4 70359421 [G/C] NM_021139 UGT2B4 EXON Missense_P287R exm403538 4 70360912 [A/C] NM_021139 UGT2B4 EXON Missense_W223L exm403543 4 70360987 [A/G] NM_021139 UGT2B4 EXON Missense_M198T exm403548 4 70361099 [T/C] NM_021139 UGT2B4 EXON Missense_A161T exm403552 4 70361138 [A/C] NM_021139 UGT2B4 EXON Missense_V148F exm403555 4 70361182 [T/C] NM_021139 UGT2B4 EXON Missense_N133S exm403559 4 70361342 [A/G] NM_021139 UGT2B4 EXON Missense_S80P exm403560 4 70361348 [T/G] NM_021139 UGT2B4 EXON Missense_P78T exm403562 4 70361396 [T/C] NM_021139 UGT2B4 EXON Missense_I62V exm403563 4 70361431 [T/C] NM_021139 UGT2B4 EXON Missense_G50D exm403575 4 70455211 [T/G] NM_001252274,NM_001105677,NM_006798,NM_001252275 UGT2A1,UGT2A2,UGT2A1,UGT2A1 EXON Missense_S654Y,Missense_S497Y,Missense_S488Y,Missense_S488Y exm2077936 4 70460199 [T/G] NM_001252274,NM_001105677,NM_006798,NM_001252275 UGT2A1,UGT2A2,UGT2A1,UGT2A1 EXON Missense_P600T,Missense_P443T,Missense_P434T,Missense_P434T exm403586 4 70460217 [T/A] NM_001252274,NM_001105677,NM_006798,NM_001252275 UGT2A1,UGT2A2,UGT2A1,UGT2A1 EXON Nonsense_R594X,Nonsense_R437X,Nonsense_R428X,Nonsense_R428X exm403597 4 70460361 [T/C] NM_001252274,NM_001105677,NM_006798,NM_001252275 UGT2A1,UGT2A2,UGT2A1,UGT2A1 EXON Missense_E546K,Missense_E389K,Missense_E380K,Missense_E380K exm403606 4 70460939 [C/G] NM_001252274,NM_001105677,NM_006798,NM_001252275 UGT2A1,UGT2A2,UGT2A1,UGT2A1 EXON Missense_P508R,Missense_P351R,Missense_P342R,Missense_P342R exm403607 4 70460940 [T/G] NM_001252274,NM_001105677,NM_006798,NM_001252275 UGT2A1,UGT2A2,UGT2A1,UGT2A1 EXON Missense_P508T,Missense_P351T,Missense_P342T,Missense_P342T exm403609 4 70460944 [A/C] NM_001252274,NM_001105677,NM_006798,NM_001252275 UGT2A1,UGT2A2,UGT2A1,UGT2A1 EXON Missense_K506N,Missense_K349N,Missense_K340N,Missense_K340N exm403610 4 70460968 [T/C] NM_001252274,NM_001105677,NM_006798,NM_001252275 UGT2A1,UGT2A2,UGT2A1,UGT2A1 Silent,Silent,Silent,Silent exm403615 4 70462042 [T/C] NM_001252274,NM_001105677,NM_006798,NM_001252275 UGT2A1,UGT2A2,UGT2A1,UGT2A1 EXON Silent,Missense_G317R,Missense_G308R,Silent exm403620 4 70465005 [A/C] NM_001252274,NM_001105677,NM_006798,NM_001252275 UGT2A1,UGT2A2,UGT2A1,UGT2A1 EXON Missense_V485F,Missense_V284F,Missense_V275F,Missense_V319F exm403624 4 70465059 [A/G] NM_001252274,NM_001105677,NM_006798,NM_001252275 UGT2A1,UGT2A2,UGT2A1,UGT2A1 EXON Nonsense_R467X,Nonsense_R266X,Nonsense_R257X,Nonsense_R301X exm403627 4 70504668 [T/C] NM_001252274,NM_001105677,NM_006798,NM_001252275 UGT2A1,UGT2A2,UGT2A1,UGT2A1 EXON Missense_I432V,Missense_I231V,Silent,Silent exm403629 4 70504722 [T/C] NM_001252274,NM_001105677,NM_006798,NM_001252275 UGT2A1,UGT2A2,UGT2A1,UGT2A1 EXON Missense_M414V,Missense_M213V,Silent,Silent exm403631 4 70504751 [A/G] NM_001252274,NM_001105677,NM_006798,NM_001252275 UGT2A1,UGT2A2,UGT2A1,UGT2A1 EXON Missense_P404L,Missense_P203L,Silent,Silent exm403633 4 70504823 [C/G] NM_001252274,NM_001105677,NM_006798,NM_001252275 UGT2A1,UGT2A2,UGT2A1,UGT2A1 EXON Missense_T380R,Missense_T179R,Silent,Silent exm403635 4 70504890 [T/C] NM_001252274,NM_001105677,NM_006798,NM_001252275 UGT2A1,UGT2A2,UGT2A1,UGT2A1 EXON Missense_V358I,Missense_V157I,Silent,Silent exm403639 4 70504993 [T/G] NM_001252274,NM_001105677,NM_006798,NM_001252275 UGT2A1,UGT2A2,UGT2A1,UGT2A1 EXON Missense_K323N,Missense_K122N,Silent,Silent exm403640 4 70505036 [A/G] NM_001252274,NM_001105677,NM_006798,NM_001252275 UGT2A1,UGT2A2,UGT2A1,UGT2A1 EXON Missense_P309L,Missense_P108L,Silent,Silent exm403641 4 70505050 [C/G] NM_001252274,NM_001105677,NM_006798,NM_001252275 UGT2A1,UGT2A2,UGT2A1,UGT2A1 EXON Missense_W304C,Missense_W103C,Silent,Silent exm403643 4 70505072 [A/G] NM_001252274,NM_001105677,NM_006798,NM_001252275 UGT2A1,UGT2A2,UGT2A1,UGT2A1 EXON Missense_I297T,Missense_I96T,Silent,Silent exm403648 4 70505154 [A/G] NM_001252274,NM_001105677,NM_006798,NM_001252275 UGT2A1,UGT2A2,UGT2A1,UGT2A1 EXON Missense_F270L,Missense_F69L,Silent,Silent exm403649 4 70505162 [A/G] NM_001252274,NM_001105677,NM_006798,NM_001252275 UGT2A1,UGT2A2,UGT2A1,UGT2A1 EXON Missense_A267V,Missense_A66V,Silent,Silent exm403661 4 70512693 [T/C] NM_001252274,NM_006798,NM_001252275 UGT2A1,UGT2A1,UGT2A1 EXON Missense_E224K,Missense_E224K,Missense_E224K exm403666 4 70512773 [A/G] NM_001252274,NM_006798,NM_001252275 UGT2A1,UGT2A1,UGT2A1 EXON Missense_L197S,Missense_L197S,Missense_L197S exm403667 4 70512787 [T/A] NM_001252274,NM_006798,NM_001252275 UGT2A1,UGT2A1,UGT2A1 EXON Nonsense_Y192X,Nonsense_Y192X,Nonsense_Y192X exm403668 4 70512801 [A/G] NM_001252274,NM_006798,NM_001252275 UGT2A1,UGT2A1,UGT2A1 EXON Missense_Y188H,Missense_Y188H,Missense_Y188H exm403673 4 70512978 [T/C] NM_001252274,NM_006798,NM_001252275 UGT2A1,UGT2A1,UGT2A1 EXON Missense_V129I,Missense_V129I,Missense_V129I exm403684 4 70513139 [T/C] NM_001252274,NM_006798,NM_001252275 UGT2A1,UGT2A1,UGT2A1 EXON Missense_R75K,Missense_R75K,Missense_R75K exm403687 4 70513163 [T/G] NM_001252274,NM_006798,NM_001252275 UGT2A1,UGT2A1,UGT2A1 EXON Missense_P67Q,Missense_P67Q,Missense_P67Q exm403690 4 70513199 [A/G] NM_001252274,NM_006798,NM_001252275 UGT2A1,UGT2A1,UGT2A1 EXON Missense_A55V,Missense_A55V,Missense_A55V exm403696 4 70513361 [A/G] NM_001252274,NM_006798,NM_001252275 UGT2A1,UGT2A1,UGT2A1 EXON Missense_M1T,Missense_M1T,Missense_M1T exm403702 4 70592820 [A/G] NM_014465 SULT1B1 EXON Missense_R293C exm403706 4 70592915 [A/G] NM_014465 SULT1B1 EXON Missense_T261M exm403707 4 70592917 [A/C] NM_014465 SULT1B1 EXON Synonymous_G260G exm403709 4 70596224 [T/C] NM_014465 SULT1B1 EXON Missense_R258H exm403710 4 70596225 [G/C] NM_014465 SULT1B1 EXON Missense_R258G exm403712 4 70596332 [T/C] NM_014465 SULT1B1 EXON Missense_D222G exm2241226 4 70596340 [C/G] NM_014465 SULT1B1 EXON Missense_E219D exm403715 4 70596385 [T/G] NM_014465 SULT1B1 EXON Missense_E204D exm403716 4 70599137 [T/C] NM_014465 SULT1B1 EXON Missense_M197I exm403720 4 70599222 [T/G] NM_014465 SULT1B1 EXON Missense_A169D exm2241227 4 70599907 [A/G] NM_014465 SULT1B1 EXON Missense_P151S exm403725 4 70599925 [A/C] NM_014465 SULT1B1 EXON Missense_L145V exm2077973 4 70599952 [T/C] NM_014465 SULT1B1 EXON Missense_V136I exm403747 4 70620858 [T/G] NM_014465 SULT1B1 EXON Missense_S26R exm403752 4 70620911 [A/G] NM_014465 SULT1B1 EXON Nonsense_R9X exm2078010 4 70715206 [G/C] NM_005420 SULT1E1 EXON Missense_P149A exm403770 4 70715260 [G/C] NM_005420 SULT1E1 EXON Missense_A131P exm403782 4 70723299 [A/C] NM_005420 SULT1E1 EXON Missense_D22Y exm403787 4 70799939 [G/C] NM_001890,NM_001025104 CSN1S1,CSN1S1 EXON Missense_L21V,Missense_L21V exm403800 4 70802283 [C/G] NM_001890,NM_001025104 CSN1S1,CSN1S1 Silent,Silent exm403803 4 70803539 [A/G] NM_001890,NM_001025104 CSN1S1,CSN1S1 EXON Missense_E81K,Missense_E80K exm403808 4 70804909 [A/G] NM_001890,NM_001025104 CSN1S1,CSN1S1 EXON Missense_I87V,Missense_I86V exm403814 4 70807771 [T/C] NM_001890,NM_001025104 CSN1S1,CSN1S1 EXON Missense_A117V,Missense_A108V exm403820 4 70810605 [A/G] NM_001890,NM_001025104 CSN1S1,CSN1S1 EXON Missense_Y147C,Missense_Y138C exm403822 4 70810661 [G/C] NM_001890,NM_001025104 CSN1S1,CSN1S1 EXON Missense_D166H,Missense_D157H exm403831 4 70823060 [T/G] NM_001891 CSN2 EXON Missense_L203I exm403832 4 70823081 [A/G] NM_001891 CSN2 EXON Missense_L196F exm2078041 4 70823167 [A/G] NM_001891 CSN2 EXON Missense_P167L exm403838 4 70823168 [A/G] NM_001891 CSN2 EXON Missense_P167S exm403842 4 70823302 [A/G] NM_001891 CSN2 EXON Missense_T122M exm2078044 4 70823320 [A/G] NM_001891 CSN2 EXON Missense_P116L exm403866 4 70864165 [T/C] NM_001009181,NM_003154 STATH,STATH EXON Missense_L4P,Missense_L4P exm403867 4 70864179 [T/A] NM_001009181,NM_003154 STATH,STATH EXON Missense_I9F,Missense_I9F exm2078060 4 70865507 [A/G] NM_001009181,NM_003154 STATH,STATH EXON Silent,Missense_R28H exm403880 4 70866636 [A/C] NM_001009181,NM_003154 STATH,STATH EXON Nonsense_Y43X,Nonsense_Y53X exm403898 4 70898922 [A/T] NM_000200 HTN3 EXON Nonsense_Y47X exm403908 4 70918817 [A/C] NM_002159 HTN1 EXON Missense_L8F exm403916 4 70920061 [T/C] NM_002159 HTN1 Silent exm403931 4 70921227 [T/C] NM_002159 HTN1 EXON Missense_S39P exm403934 4 70921282 [A/G] NM_002159 HTN1 EXON Missense_N57S exm403945 4 71024099 [A/G] NM_214711 C4orf40 EXON Missense_I44V exm2078084 4 71024102 [T/C] NM_214711 C4orf40 EXON Missense_R45W exm2078085 4 71024132 [A/C] NM_214711 C4orf40 EXON Missense_P55T exm403949 4 71024171 [A/G] NM_214711 C4orf40 EXON Missense_T68A exm403954 4 71024240 [T/C] NM_214711 C4orf40 EXON Missense_R91C exm403956 4 71024268 [A/G] NM_214711 C4orf40 EXON Missense_N100S exm2078087 4 71024346 [A/C] NM_214711 C4orf40 EXON Missense_A126D exm2078088 4 71024376 [A/C] NM_214711 C4orf40 EXON Missense_A136D exm403971 4 71024451 [A/G] NM_214711 C4orf40 EXON Missense_E161G exm403983 4 71024526 [T/C] NM_214711 C4orf40 EXON Missense_V186A exm403984 4 71024530 [C/G] NM_214711 C4orf40 EXON Missense_E187D exm403987 4 71024552 [C/G] NM_214711 C4orf40 EXON Missense_P195A exm404001 4 71063018 [T/C] NM_017855 ODAM EXON Missense_L41F exm404008 4 71063773 [T/C] NM_017855 ODAM EXON Missense_P92S exm404010 4 71063801 [A/G] NM_017855 ODAM EXON Missense_Q101R exm404024 4 71066238 [A/G] NM_017855 ODAM EXON Missense_M150V exm404034 4 71068489 [T/C] NM_017855 ODAM EXON Missense_I222T exm404047 4 71098730 [A/G] NM_152997 FDCSP EXON Missense_R26Q exm404057 4 71099870 [A/C] NM_152997 FDCSP EXON Missense_S75Y exm404060 4 71099896 [A/G] NM_152997 FDCSP EXON Missense_E84K exm404068 4 71114793 [A/C] NM_005212 CSN3 EXON Missense_P56T exm404074 4 71114913 [T/C] NM_005212 CSN3 EXON Missense_R96W exm404075 4 71114914 [A/G] NM_005212 CSN3 EXON Missense_R96Q exm404080 4 71114965 [T/C] NM_005212 CSN3 EXON Missense_L113P exm404083 4 71115045 [A/G] NM_005212 CSN3 EXON Missense_V140I exm404085 4 71115060 [A/G] NM_005212 CSN3 EXON Missense_A145T exm404092 4 71115159 [A/G] NM_005212 CSN3 EXON Missense_T178A exm404093 4 71200799 [A/G] NM_033122 CABS1 EXON Missense_T15A exm2241231 4 71200844 [A/G] NM_033122 CABS1 EXON Missense_A30T exm2241232 4 71200982 [A/C] NM_033122 CABS1 EXON Missense_K76Q exm404115 4 71201388 [T/C] NM_033122 CABS1 EXON Missense_T211I exm404121 4 71201545 [G/C] NM_033122 CABS1 EXON Missense_K263N exm404125 4 71201648 [T/G] NM_033122 CABS1 EXON Missense_W298G exm2274017 4 71201682 [T/C] NM_033122 CABS1 EXON Missense_T309I exm2269772 4 71207398 [T/C] exm404147 4 71232430 [T/C] NM_012390 SMR3A EXON Missense_C42R exm404151 4 71232496 [T/C] NM_012390 SMR3A EXON Missense_P64S exm2078161 4 71232520 [A/G] NM_012390 SMR3A EXON Missense_G72S exm404162 4 71232701 [T/C] NM_012390 SMR3A EXON Missense_P132L exm404178 4 71255423 [A/G] NM_006685 SMR3B EXON Missense_G33E exm404180 4 71255465 [T/C] NM_006685 SMR3B EXON Missense_P47L exm404193 4 71275232 [T/C] NM_021225 PROL1 EXON Missense_L63F exm404196 4 71275250 [T/C] NM_021225 PROL1 EXON Nonsense_R69X exm404206 4 71275469 [A/C] NM_021225 PROL1 EXON Missense_P142T exm404207 4 71275480 [A/C] NM_021225 PROL1 EXON Missense_N145K exm404209 4 71275490 [A/G] NM_021225 PROL1 EXON Missense_A149T exm404223 4 71275759 [T/G] NM_021225 PROL1 EXON Missense_S238R exm404224 4 71275769 [A/C] NM_021225 PROL1 EXON Missense_K242Q exm2276910 4 71275790 [T/C] NM_021225 PROL1 EXON Missense_X249R exm-rs1109501 4 71329490 [A/G] NM_001145006 MUC7 Silent exm404226 4 71339723 [A/G] NM_001145006,NM_001145007,NM_152291 MUC7,MUC7,MUC7 Silent,Silent,Silent exm404233 4 71346606 [T/C] NM_001145006,NM_001145007,NM_152291 MUC7,MUC7,MUC7 EXON Missense_P49S,Missense_P49S,Missense_P49S exm404236 4 71346701 [C/G] NM_001145006,NM_001145007,NM_152291 MUC7,MUC7,MUC7 EXON Missense_N80K,Missense_N80K,Missense_N80K exm404240 4 71346784 [A/C] NM_001145006,NM_001145007,NM_152291 MUC7,MUC7,MUC7 EXON Missense_T108K,Missense_T108K,Missense_T108K exm404244 4 71346943 [T/C] NM_001145006,NM_001145007,NM_152291 MUC7,MUC7,MUC7 EXON Missense_A161V,Missense_A161V,Missense_A161V exm404245 4 71346966 [A/C] NM_001145006,NM_001145007,NM_152291 MUC7,MUC7,MUC7 EXON Missense_P169T,Missense_P169T,Missense_P169T exm404276 4 71347281 [A/G] NM_001145006,NM_001145007,NM_152291 MUC7,MUC7,MUC7 EXON Missense_A274T,Missense_A274T,Missense_A274T exm404278 4 71347333 [T/C] NM_001145006,NM_001145007,NM_152291 MUC7,MUC7,MUC7 EXON Missense_T291I,Missense_T291I,Missense_T291I exm404279 4 71347336 [A/C] NM_001145006,NM_001145007,NM_152291 MUC7,MUC7,MUC7 EXON Missense_P292Q,Missense_P292Q,Missense_P292Q exm404284 4 71347407 [A/G] NM_001145006,NM_001145007,NM_152291 MUC7,MUC7,MUC7 EXON Missense_T316A,Missense_T316A,Missense_T316A exm404285 4 71347422 [A/G] NM_001145006,NM_001145007,NM_152291 MUC7,MUC7,MUC7 EXON Missense_D321N,Missense_D321N,Missense_D321N exm404293 4 71347497 [A/C] NM_001145006,NM_001145007,NM_152291 MUC7,MUC7,MUC7 EXON Missense_Q346K,Missense_Q346K,Missense_Q346K exm404296 4 71347577 [A/C] NM_001145006,NM_001145007,NM_152291 MUC7,MUC7,MUC7 EXON Missense_D372E,Missense_D372E,Missense_D372E exm404305 4 71384537 [T/C] NM_212557 AMTN EXON Missense_R15W exm404307 4 71384546 [T/C] NM_212557 AMTN EXON Missense_P18S exm404312 4 71388515 [T/C] NM_212557 AMTN EXON Missense_P33L exm404313 4 71388551 [A/G] NM_212557 AMTN EXON Missense_N45S exm404316 4 71389594 [T/C] NM_212557 AMTN EXON Missense_S50P exm404324 4 71390616 [A/G] NM_212557 AMTN EXON Missense_G78S exm404326 4 71390647 [A/G] NM_212557 AMTN EXON Missense_G88E exm404328 4 71394470 [A/G] NM_212557 AMTN EXON Missense_A109T exm404334 4 71396783 [T/C] NM_212557 AMTN EXON Missense_H129Y exm2241240 4 71396909 [T/C] NM_212557 AMTN EXON Missense_R171C exm2265716 4 71439354 [A/G] exm2241241 4 71459092 [A/G] NM_016519 AMBN EXON Missense_E22K exm404357 4 71465278 [G/C] NM_016519 AMBN EXON Nonsense_S70X exm404360 4 71465302 [T/G] NM_016519 AMBN EXON Missense_G78V exm2078224 4 71467214 [A/C] NM_016519 AMBN EXON Missense_P125H exm404372 4 71468348 [G/C] NM_016519 AMBN EXON Missense_G180A exm2078232 4 71468351 [T/C] NM_016519 AMBN EXON Missense_V181A exm404383 4 71468993 [A/G] NM_016519 AMBN EXON Missense_R222H exm404395 4 71469604 [T/C] NM_016519 AMBN EXON Missense_A255V exm404398 4 71471905 [A/G] NM_016519 AMBN EXON Missense_G268R exm404400 4 71471958 [A/G] NM_016519 AMBN EXON Missense_M285I exm404404 4 71472001 [A/G] NM_016519 AMBN EXON Missense_G300S exm404407 4 71472053 [A/C] NM_016519 AMBN EXON Missense_E317A exm404417 4 71472164 [T/C] NM_016519 AMBN EXON Missense_L354P exm404424 4 71472275 [T/C] NM_016519 AMBN EXON Missense_L391S exm404432 4 71472409 [A/G] NM_016519 AMBN EXON Missense_E436K exm404434 4 71472424 [A/G] NM_016519 AMBN EXON Missense_A441T exm2078250 4 71497408 [T/A] NM_031889 ENAM EXON Missense_I26F exm404457 4 71500047 [T/C] NM_031889 ENAM EXON Missense_F78S exm404459 4 71500065 [A/G] NM_031889 ENAM EXON Missense_Q84R exm404463 4 71500262 [A/G] NM_031889 ENAM EXON Missense_E150K exm404467 4 71507775 [A/G] NM_031889 ENAM EXON Missense_R211H exm404473 4 71507909 [A/C] NM_031889 ENAM EXON Missense_P256T exm404478 4 71507986 [A/C] NM_031889 ENAM EXON Missense_N281K exm404483 4 71508087 [A/G] NM_031889 ENAM EXON Missense_N315S exm404487 4 71508137 [A/G] NM_031889 ENAM EXON Missense_R332G exm2274018 4 71508215 [A/G] NM_031889 ENAM EXON Missense_G358S exm404493 4 71508222 [A/G] NM_031889 ENAM EXON Missense_R360Q exm404495 4 71508261 [A/G] NM_031889 ENAM EXON Missense_R373H exm404497 4 71508308 [A/G] NM_031889 ENAM EXON Missense_G389S exm404498 4 71508324 [A/T] NM_031889 ENAM EXON Missense_Y394F exm404510 4 71508522 [A/G] NM_031889 ENAM EXON Missense_N460S exm404511 4 71508539 [A/G] NM_031889 ENAM EXON Missense_V466I exm404515 4 71508697 [A/T] NM_031889 ENAM EXON Missense_K518N exm404518 4 71508799 [C/G] NM_031889 ENAM EXON Missense_I552M exm404519 4 71508869 [T/C] NM_031889 ENAM EXON Missense_F576L exm404527 4 71509086 [T/C] NM_031889 ENAM EXON Missense_I648T exm404534 4 71509314 [T/C] NM_031889 ENAM EXON Missense_P724L exm404544 4 71509415 [A/C] NM_031889 ENAM EXON Missense_T758P exm404545 4 71509431 [A/G] NM_031889 ENAM EXON Missense_R763Q exm404546 4 71509458 [A/C] NM_031889 ENAM EXON Missense_A772D exm2078276 4 71509672 [A/C] NM_031889 ENAM EXON Missense_R843S exm404561 4 71509980 [C/G] NM_031889 ENAM EXON Missense_R946T exm2256702 4 71510215 [T/C] NM_031889 ENAM EXON Synonymous_P1024P exm404580 4 71510420 [T/C] NM_031889 ENAM EXON Missense_P1093S exm404582 4 71510453 [A/C] NM_031889 ENAM EXON Missense_Q1104K exm404583 4 71510463 [A/G] NM_031889 ENAM EXON Missense_S1107N exm404587 4 71510549 [C/G] NM_031889 ENAM EXON Missense_D1136H exm404606 4 71527881 [T/C] NM_144646 IGJ EXON Missense_R39Q exm404607 4 71532168 [A/T] NM_144646 IGJ EXON Missense_F14I exm404616 4 71554462 [T/C] NM_020368 UTP3 EXON Missense_T23M exm404629 4 71554709 [T/G] NM_020368 UTP3 EXON Missense_E105D exm404638 4 71554870 [A/G] NM_020368 UTP3 EXON Missense_R159K exm404642 4 71554974 [T/C] NM_020368 UTP3 EXON Missense_P194S exm404643 4 71554999 [A/G] NM_020368 UTP3 EXON Missense_R202Q exm404645 4 71555053 [A/G] NM_020368 UTP3 EXON Missense_R220Q exm404648 4 71555112 [A/G] NM_020368 UTP3 EXON Missense_V240I exm2078302 4 71555361 [T/C] NM_020368 UTP3 EXON Missense_R323C exm404663 4 71555573 [A/C] NM_020368 UTP3 EXON Missense_E393D exm404664 4 71555595 [A/G] NM_020368 UTP3 EXON Missense_A401T exm404665 4 71555598 [A/C] NM_020368 UTP3 EXON Missense_L402I exm404666 4 71555623 [T/C] NM_020368 UTP3 EXON Missense_A410V exm404667 4 71555656 [T/G] NM_020368 UTP3 EXON Missense_L421R exm404683 4 71629345 [T/C] NM_001130709,NM_001037442,NM_014961 RUFY3,RUFY3,RUFY3 EXON Synonymous_A203A,Synonymous_A143A,Synonymous_A143A exm404686 4 71634272 [A/G] NM_001130709,NM_001037442,NM_014961 RUFY3,RUFY3,RUFY3 EXON Missense_N257S,Missense_N197S,Missense_N197S exm404689 4 71634283 [A/G] NM_001130709,NM_001037442,NM_014961 RUFY3,RUFY3,RUFY3 EXON Missense_M261V,Missense_M201V,Missense_M201V exm404695 4 71639274 [A/G] NM_001130709,NM_001037442,NM_014961 RUFY3,RUFY3,RUFY3 EXON Missense_S308N,Missense_S248N,Missense_S248N exm404709 4 71654527 [T/A] NM_001130709,NM_001037442,NM_014961 RUFY3,RUFY3,RUFY3 EXON Missense_V419D,Missense_V359D,Missense_V359D exm2078328 4 71654677 [A/C] NM_001130709,NM_001037442,NM_014961 RUFY3,RUFY3,RUFY3 EXON Missense_A469D,Missense_A409D,Missense_A409D exm404716 4 71656975 [A/C] NM_001037442,NM_014961 RUFY3,RUFY3 EXON Silent,Missense_L457F exm404720 4 71659504 [T/C] NM_001037442 RUFY3 EXON Missense_L447S exm404724 4 71659549 [A/G] NM_001037442 RUFY3 EXON Missense_R462Q exm2241251 4 71659621 [A/G] NM_001037442 RUFY3 EXON Missense_R486Q exm404736 4 71665919 [A/G] NM_001037442 RUFY3 EXON Missense_H540R exm404750 4 71672317 [T/C] NM_001037442 RUFY3 EXON Nonsense_R602X exm404751 4 71672318 [A/G] NM_001037442 RUFY3 EXON Missense_R602Q exm404761 4 71691057 [T/C] NM_002092,NM_001098477 GRSF1,GRSF1 EXON Missense_H450R,Missense_H288R exm404764 4 71691841 [A/G] NM_002092,NM_001098477 GRSF1,GRSF1 EXON Synonymous_N419N,Synonymous_N257N exm404780 4 71697344 [A/G] NM_002092,NM_001098477 GRSF1,GRSF1 EXON Nonsense_R288X,Nonsense_R126X exm404783 4 71698035 [T/C] NM_002092,NM_001098477 GRSF1,GRSF1 EXON Missense_D268G,Missense_D106G exm404800 4 71701905 [A/T] NM_002092,NM_001098477 GRSF1,GRSF1 EXON Missense_T162S,Silent exm404802 4 71701950 [T/C] NM_002092,NM_001098477 GRSF1,GRSF1 EXON Missense_D147N,Silent exm404806 4 71702024 [T/C] NM_002092,NM_001098477 GRSF1,GRSF1 EXON Missense_K122R,Silent exm404819 4 71824635 [T/C] NM_001244767,NM_001244766,NM_173468 MOB1B,MOB1B,MOB1B EXON Missense_P20L,Missense_P25L,Missense_P20L exm404824 4 71824737 [A/G] NM_001244767,NM_001244766,NM_173468 MOB1B,MOB1B,MOB1B EXON Missense_N54S,Missense_N59S,Missense_N54S exm404849 4 71859622 [A/G] NM_000788 DCK EXON Missense_I24V exm404857 4 71888232 [G/C] NM_000788 DCK EXON Missense_A119G exm404859 4 71888240 [T/C] NM_000788 DCK EXON Missense_P122S exm404863 4 71889287 [T/C] NM_000788 DCK EXON Missense_A138V exm404865 4 71889409 [A/C] NM_000788 DCK EXON Missense_Q179K exm2261750 4 72083374 [T/C] NM_001098484,NM_001134742 SLC4A4,SLC4A4 Silent,Silent exm404879 4 72121012 [C/G] NM_001098484,NM_001134742 SLC4A4,SLC4A4 EXON Missense_G50A,Missense_G50A exm404880 4 72121051 [A/G] NM_001098484,NM_001134742 SLC4A4,SLC4A4 EXON Missense_N63S,Missense_N63S exm404898 4 72215750 [A/G] NM_001098484,NM_001134742,NM_003759 SLC4A4,SLC4A4,SLC4A4 EXON Missense_M171V,Missense_M171V,Missense_M127V exm404899 4 72215759 [T/C] NM_001098484,NM_001134742,NM_003759 SLC4A4,SLC4A4,SLC4A4 EXON Missense_R174W,Missense_R174W,Missense_R130W exm404928 4 72316967 [A/G] NM_001098484,NM_001134742,NM_003759 SLC4A4,SLC4A4,SLC4A4 EXON Missense_G424D,Missense_G424D,Missense_G380D exm404933 4 72319212 [A/G] NM_001098484,NM_001134742,NM_003759 SLC4A4,SLC4A4,SLC4A4 EXON Synonymous_R441R,Synonymous_R441R,Synonymous_R397R exm404934 4 72319250 [T/C] NM_001098484,NM_001134742,NM_003759 SLC4A4,SLC4A4,SLC4A4 EXON Missense_A454V,Missense_A454V,Missense_A410V exm404943 4 72338589 [A/G] NM_001098484,NM_001134742,NM_003759 SLC4A4,SLC4A4,SLC4A4 EXON Missense_K602R,Missense_K602R,Missense_K558R exm404946 4 72338684 [T/C] NM_001098484,NM_001134742,NM_003759 SLC4A4,SLC4A4,SLC4A4 EXON Missense_P634S,Missense_P634S,Missense_P590S exm404950 4 72352703 [A/G] NM_001098484,NM_001134742,NM_003759 SLC4A4,SLC4A4,SLC4A4 EXON Missense_E648K,Missense_E648K,Missense_E604K exm404953 4 72363294 [A/T] NM_001098484,NM_001134742,NM_003759 SLC4A4,SLC4A4,SLC4A4 EXON Missense_N684I,Missense_N684I,Missense_N640I exm2256707 4 72397788 [T/C] NM_001098484,NM_001134742,NM_003759 SLC4A4,SLC4A4,SLC4A4 EXON Synonymous_L726L,Synonymous_L726L,Synonymous_L682L exm404961 4 72397855 [T/C] NM_001098484,NM_001134742,NM_003759 SLC4A4,SLC4A4,SLC4A4 EXON Missense_V748A,Missense_V748A,Missense_V704A exm404962 4 72397884 [G/C] NM_001098484,NM_001134742,NM_003759 SLC4A4,SLC4A4,SLC4A4 EXON Missense_E758Q,Missense_E758Q,Missense_E714Q exm404964 4 72399974 [T/C] NM_001098484,NM_001134742,NM_003759 SLC4A4,SLC4A4,SLC4A4 EXON Missense_P771S,Missense_P771S,Missense_P727S exm404976 4 72412109 [A/C] NM_001098484,NM_001134742,NM_003759 SLC4A4,SLC4A4,SLC4A4 EXON Missense_L829I,Missense_L829I,Missense_L785I exm404982 4 72413417 [T/C] NM_001098484,NM_001134742,NM_003759 SLC4A4,SLC4A4,SLC4A4 EXON Missense_F892L,Missense_F892L,Missense_F848L exm405006 4 72432747 [T/C] NM_001098484,NM_001134742,NM_003759 SLC4A4,SLC4A4,SLC4A4 EXON Missense_R1075C,Synonymous_N1042N,Missense_R1031C exm2273392 4 72432790 [A/G] NM_001098484,NM_001134742,NM_003759 SLC4A4,SLC4A4,SLC4A4 EXON Silent,Missense_G1057S,Silent exm405009 4 72433545 [A/C] NM_001098484,NM_001134742,NM_003759 SLC4A4,SLC4A4,SLC4A4 EXON Silent,Missense_I1074L,Silent exm2078447 4 72433547 [A/G] NM_001098484,NM_001134742,NM_003759 SLC4A4,SLC4A4,SLC4A4 EXON Silent,Missense_I1074M,Silent exm2265845 4 72547436 [A/G] exm-rs2282679 4 72608383 [T/G] NM_000583,NM_001204307,NM_001204306 GC,GC,GC Silent,Silent,Silent exm405016 4 72618296 [T/C] NM_000583,NM_001204307,NM_001204306 GC,GC,GC EXON Missense_H445R,Missense_H464R,Missense_H445R exm405017 4 72618297 [A/G] NM_000583,NM_001204307,NM_001204306 GC,GC,GC EXON Missense_H445Y,Missense_H464Y,Missense_H445Y exm405020 4 72618323 [T/G] NM_000583,NM_001204307,NM_001204306 GC,GC,GC EXON Missense_T436K,Missense_T455K,Missense_T436K exm405021 4 72618334 [A/C] NM_000583,NM_001204307,NM_001204306 GC,GC,GC EXON Missense_D432E,Missense_D451E,Missense_D432E exm405026 4 72620162 [A/G] NM_000583,NM_001204307,NM_001204306 GC,GC,GC EXON Missense_Y410H,Missense_Y429H,Missense_Y410H exm405028 4 72620726 [A/C] NM_000583,NM_001204307,NM_001204306 GC,GC,GC EXON Missense_V378G,Missense_V397G,Missense_V378G exm405032 4 72620789 [A/G] NM_000583,NM_001204307,NM_001204306 GC,GC,GC EXON Missense_P357L,Missense_P376L,Missense_P357L exm405033 4 72620808 [T/C] NM_000583,NM_001204307,NM_001204306 GC,GC,GC EXON Missense_S351G,Missense_S370G,Missense_S351G exm405034 4 72620824 [T/C] NM_000583,NM_001204307,NM_001204306 GC,GC,GC EXON Synonymous_K345K,Synonymous_K364K,Synonymous_K345K exm405043 4 72622601 [T/C] NM_000583,NM_001204307,NM_001204306 GC,GC,GC EXON Missense_N288D,Missense_N307D,Missense_N288D exm405057 4 72629574 [T/C] NM_000583,NM_001204307,NM_001204306 GC,GC,GC EXON Missense_M185V,Missense_M204V,Missense_M185V exm405060 4 72629648 [A/G] NM_000583,NM_001204307,NM_001204306 GC,GC,GC EXON Missense_M160T,Missense_M179T,Missense_M160T exm405064 4 72631182 [A/G] NM_000583,NM_001204307,NM_001204306 GC,GC,GC EXON Missense_A147V,Missense_A166V,Missense_A147V exm405068 4 72631218 [A/G] NM_000583,NM_001204307,NM_001204306 GC,GC,GC EXON Missense_T135I,Missense_T154I,Missense_T135I exm405070 4 72631239 [T/G] NM_000583,NM_001204307,NM_001204306 GC,GC,GC EXON Missense_H128P,Missense_H147P,Missense_H128P exm405078 4 72634084 [A/C] NM_000583,NM_001204307,NM_001204306 GC,GC,GC EXON Missense_K65N,Missense_K84N,Missense_K65N exm405081 4 72635114 [T/C] NM_000583,NM_001204307,NM_001204306 GC,GC,GC EXON Missense_R21Q,Missense_R40Q,Missense_R21Q exm2274019 4 72635115 [A/G] NM_000583,NM_001204307,NM_001204306 GC,GC,GC EXON Missense_R21W,Missense_R40W,Missense_R21W exm2269773 4 72706235 [T/C] exm2265718 4 72835953 [A/G] exm405087 4 72897723 [C/G] NM_004885 NPFFR2 EXON Missense_S35R exm405089 4 72897770 [A/G] NM_004885 NPFFR2 EXON Missense_S51N exm405090 4 72897793 [T/C] NM_004885 NPFFR2 EXON Missense_R59C exm405095 4 72897832 [T/C] NM_004885 NPFFR2 EXON Missense_W72R exm405096 4 72897836 [A/G] NM_004885 NPFFR2 EXON Missense_S73N exm405097 4 72897848 [T/A] NM_004885 NPFFR2 EXON Missense_D77V exm405099 4 72897899 [A/G] NM_004885 NPFFR2 EXON Missense_D94G exm405111 4 72994416 [G/C] NM_004885,NM_001144756,NM_053036 NPFFR2,NPFFR2,NPFFR2 EXON Missense_N138K,Missense_N39K,Missense_N36K exm405112 4 72994486 [A/G] NM_004885,NM_001144756,NM_053036 NPFFR2,NPFFR2,NPFFR2 EXON Missense_M162V,Missense_M63V,Missense_M60V exm405113 4 72994522 [A/T] NM_004885,NM_001144756,NM_053036 NPFFR2,NPFFR2,NPFFR2 EXON Missense_R174W,Missense_R75W,Missense_R72W exm405114 4 72994525 [A/G] NM_004885,NM_001144756,NM_053036 NPFFR2,NPFFR2,NPFFR2 EXON Missense_N175D,Missense_N76D,Missense_N73D exm2274020 4 72994603 [A/G] NM_004885,NM_001144756,NM_053036 NPFFR2,NPFFR2,NPFFR2 EXON Missense_M201V,Missense_M102V,Missense_M99V exm405124 4 73003816 [A/G] NM_004885,NM_001144756,NM_053036 NPFFR2,NPFFR2,NPFFR2 EXON Missense_A232T,Missense_A133T,Missense_A130T exm405126 4 73003835 [T/C] NM_004885,NM_001144756,NM_053036 NPFFR2,NPFFR2,NPFFR2 EXON Missense_L238S,Missense_L139S,Missense_L136S exm405127 4 73012709 [T/C] NM_004885,NM_001144756,NM_053036 NPFFR2,NPFFR2,NPFFR2 EXON Missense_V250A,Missense_V151A,Missense_V148A exm405131 4 73012817 [T/G] NM_004885,NM_001144756,NM_053036 NPFFR2,NPFFR2,NPFFR2 EXON Missense_V286G,Missense_V187G,Missense_V184G exm405135 4 73012917 [T/G] NM_004885,NM_001144756,NM_053036 NPFFR2,NPFFR2,NPFFR2 EXON Missense_K319N,Missense_K220N,Missense_K217N exm405137 4 73012928 [T/C] NM_004885,NM_001144756,NM_053036 NPFFR2,NPFFR2,NPFFR2 EXON Missense_T323I,Missense_T224I,Missense_T221I exm405139 4 73012954 [C/G] NM_004885,NM_001144756,NM_053036 NPFFR2,NPFFR2,NPFFR2 EXON Missense_A332P,Missense_A233P,Missense_A230P exm405147 4 73013165 [T/C] NM_004885,NM_001144756,NM_053036 NPFFR2,NPFFR2,NPFFR2 EXON Missense_A402V,Missense_A303V,Missense_A300V exm405148 4 73013168 [A/G] NM_004885,NM_001144756,NM_053036 NPFFR2,NPFFR2,NPFFR2 EXON Missense_D403G,Missense_D304G,Missense_D301G exm405152 4 73013202 [C/G] NM_004885,NM_001144756,NM_053036 NPFFR2,NPFFR2,NPFFR2 EXON Missense_I414M,Missense_I315M,Missense_I312M exm405153 4 73013207 [T/C] NM_004885,NM_001144756,NM_053036 NPFFR2,NPFFR2,NPFFR2 EXON Missense_I416T,Missense_I317T,Missense_I314T exm405160 4 73013344 [A/G] NM_004885,NM_001144756,NM_053036 NPFFR2,NPFFR2,NPFFR2 EXON Missense_M462V,Missense_M363V,Missense_M360V exm405162 4 73013366 [T/C] NM_004885,NM_001144756,NM_053036 NPFFR2,NPFFR2,NPFFR2 EXON Missense_A469V,Missense_A370V,Missense_A367V exm405163 4 73013389 [A/T] NM_004885,NM_001144756,NM_053036 NPFFR2,NPFFR2,NPFFR2 EXON Missense_T477S,Missense_T378S,Missense_T375S exm405168 4 73013509 [A/G] NM_004885,NM_001144756,NM_053036 NPFFR2,NPFFR2,NPFFR2 EXON Missense_T517A,Missense_T418A,Missense_T415A exm405172 4 73148885 [A/G] NM_014243 ADAMTS3 EXON Missense_R1196C exm405175 4 73149028 [A/G] NM_014243 ADAMTS3 EXON Missense_P1148L exm405177 4 73149047 [T/C] NM_014243 ADAMTS3 EXON Missense_V1142M exm405179 4 73149106 [T/C] NM_014243 ADAMTS3 EXON Missense_S1122N exm405180 4 73149182 [A/G] NM_014243 ADAMTS3 EXON Missense_P1097S exm405181 4 73149251 [A/G] NM_014243 ADAMTS3 EXON Missense_S1074P exm405186 4 73149358 [A/G] NM_014243 ADAMTS3 EXON Missense_S1038F exm405197 4 73156675 [T/C] NM_014243 ADAMTS3 EXON Missense_R943H exm405198 4 73156678 [T/C] NM_014243 ADAMTS3 EXON Missense_N942S exm405200 4 73156723 [T/C] NM_014243 ADAMTS3 EXON Missense_Q927R exm405211 4 73169666 [T/C] NM_014243 ADAMTS3 EXON Missense_D798N exm405222 4 73171772 [A/G] NM_014243 ADAMTS3 EXON Missense_M731T exm405240 4 73178175 [T/C] NM_014243 ADAMTS3 EXON Missense_N585S exm405243 4 73179424 [T/C] NM_014243 ADAMTS3 EXON Missense_R572H exm2275751 4 73179425 [A/G] NM_014243 ADAMTS3 EXON Missense_R572C exm405247 4 73179445 [T/C] NM_014243 ADAMTS3 EXON Missense_R565Q exm405255 4 73181637 [T/G] NM_014243 ADAMTS3 EXON Missense_P513T exm405257 4 73181656 [T/C] NM_014243 ADAMTS3 EXON Nonsense_W506X exm405271 4 73185600 [T/C] NM_014243 ADAMTS3 EXON Missense_V395I exm405272 4 73185663 [T/C] NM_014243 ADAMTS3 EXON Missense_G374S exm2256709 4 73186462 [C/G] NM_014243 ADAMTS3 EXON Synonymous_T357T exm405281 4 73186526 [A/G] NM_014243 ADAMTS3 EXON Missense_A336V exm405285 4 73188784 [T/C] NM_014243 ADAMTS3 EXON Missense_G298R exm405290 4 73205243 [T/C] NM_014243 ADAMTS3 EXON Missense_V277I exm2078565 4 73280538 [A/G] NM_014243 ADAMTS3 EXON Missense_Y219H exm405299 4 73280556 [T/C] NM_014243 ADAMTS3 EXON Missense_M213V exm405301 4 73280583 [A/C] NM_014243 ADAMTS3 EXON Missense_S204A exm405308 4 73414286 [T/C] NM_014243 ADAMTS3 EXON Missense_R138K exm405309 4 73414289 [T/C] NM_014243 ADAMTS3 EXON Missense_R137Q exm405316 4 73414406 [T/C] NM_014243 ADAMTS3 EXON Missense_N98S exm405320 4 73414482 [T/C] NM_014243 ADAMTS3 EXON Missense_V73M exm405329 4 73433114 [A/C] NM_014243 ADAMTS3 EXON Missense_G25V exm2269774 4 73470972 [T/C] exm2269933 4 73472941 [T/C] exm-rs7697556 4 73515313 [T/C] exm2265719 4 73657570 [A/G] exm405340 4 73923916 [T/C] NM_173827 COX18 EXON Missense_R306Q exm405342 4 73924001 [T/C] NM_173827 COX18 EXON Missense_I278V exm405346 4 73927540 [A/G] NM_173827 COX18 EXON Missense_T273M exm405347 4 73927550 [T/C] NM_173827 COX18 EXON Missense_I270V exm405348 4 73927571 [T/C] NM_173827 COX18 EXON Missense_M263V exm405350 4 73927577 [A/G] NM_173827 COX18 EXON Missense_R261C exm2256713 4 73927596 [T/C] NM_173827 COX18 EXON Synonymous_T254T exm405357 4 73930495 [T/C] NM_173827 COX18 EXON Synonymous_E240E exm405375 4 73935185 [A/G] NM_173827 COX18 EXON Missense_S61F exm405385 4 73935320 [A/G] NM_173827 COX18 EXON Missense_L16P exm405386 4 73935357 [A/G] NM_173827 COX18 EXON Missense_R4W exm405389 4 73941995 [G/C] NM_198889,NM_032217 ANKRD17,ANKRD17 EXON Missense_P2338A,Missense_P2589A exm405398 4 73943154 [T/C] NM_198889,NM_032217 ANKRD17,ANKRD17 EXON Missense_R2251Q,Missense_R2502Q exm405413 4 73951068 [T/C] NM_198889,NM_032217 ANKRD17,ANKRD17 EXON Missense_G2102R,Missense_G2353R exm405417 4 73956507 [T/G] NM_198889,NM_032217 ANKRD17,ANKRD17 EXON Missense_P2029T,Missense_P2280T exm405435 4 73957010 [A/G] NM_198889,NM_032217 ANKRD17,ANKRD17 EXON Missense_P1861L,Missense_P2112L exm405437 4 73957072 [T/A] NM_198889,NM_032217 ANKRD17,ANKRD17 EXON Missense_R1840S,Missense_R2091S exm405463 4 73962889 [G/C] NM_198889,NM_032217 ANKRD17,ANKRD17 EXON Missense_A1457P,Missense_A1708P exm405498 4 73987473 [T/C] NM_198889,NM_032217 ANKRD17,ANKRD17 EXON Missense_V915M,Missense_V1166M exm405525 4 74005598 [A/G] NM_198889,NM_032217 ANKRD17,ANKRD17 EXON Silent,Missense_L912P exm2256714 4 74019763 [A/G] NM_198889,NM_032217 ANKRD17,ANKRD17 EXON Synonymous_S356S,Synonymous_S356S exm405574 4 74124054 [A/G] NM_198889,NM_032217 ANKRD17,ANKRD17 EXON Missense_T111I,Missense_T111I exm405597 4 74270111 [T/C] NM_000477 ALB EXON Missense_R23C exm405598 4 74270123 [T/C] NM_000477 ALB EXON Missense_H27Y exm405606 4 74274363 [A/G] NM_000477 ALB EXON Missense_Y108C exm405608 4 74274452 [T/C] NM_000477 ALB EXON Nonsense_R138X exm405616 4 74275120 [A/T] NM_000477 ALB EXON Missense_E177D exm405620 4 74275172 [A/G] NM_000477 ALB EXON Missense_A195T exm405632 4 74277724 [A/G] NM_000477 ALB EXON Missense_R242H exm405633 4 74277744 [A/C] NM_000477 ALB EXON Missense_K249Q exm405646 4 74279351 [T/C] NM_000477 ALB EXON Missense_M353T exm405649 4 74280852 [T/G] NM_000477 ALB EXON Missense_A387S exm405651 4 74281976 [A/G] NM_000477 ALB EXON Missense_D399N exm2078738 4 74283902 [A/G] NM_000477 ALB EXON Missense_R509Q exm2269775 4 74285239 [T/C] NM_000477 ALB EXON Synonymous_L556L exm405679 4 74285240 [A/G] NM_000477 ALB EXON Missense_V557M exm405682 4 74285292 [A/G] NM_000477 ALB EXON Missense_D574G exm405683 4 74285297 [A/G] NM_000477 ALB EXON Missense_A576T exm405694 4 74302064 [A/G] NM_001134 AFP EXON Missense_A29T exm405704 4 74306373 [C/G] NM_001134 AFP EXON Missense_G109R exm405717 4 74308089 [A/C] NM_001134 AFP EXON Missense_K187Q exm405725 4 74309160 [A/C] NM_001134 AFP EXON Missense_I238L exm405727 4 74310754 [C/G] NM_001134 AFP EXON Missense_T253S exm405728 4 74310768 [C/G] NM_001134 AFP EXON Missense_L258V exm405729 4 74310793 [A/G] NM_001134 AFP EXON Missense_H266R exm405735 4 74313216 [T/C] NM_001134 AFP EXON Missense_T294I exm2078762 4 74315060 [A/G] NM_001134 AFP EXON Missense_H356R exm405758 4 74316394 [T/C] NM_001134 AFP EXON Missense_T451I exm405778 4 74318260 [T/C] NM_001134 AFP EXON Missense_P524L exm405785 4 74318329 [T/C] NM_001134 AFP EXON Missense_T547I exm405789 4 74319538 [G/C] NM_001134 AFP EXON Missense_A570G exm405794 4 74320984 [A/C] NM_001134 AFP EXON Missense_A606D exm405795 4 74320989 [A/G] NM_001134 AFP EXON Missense_G608R exm405796 4 74321009 [T/C] NM_001134 AFP Silent exm405800 4 74347532 [T/G] NM_001133 AFM EXON Missense_F14V exm405809 4 74351593 [T/G] NM_001133 AFM EXON Missense_Q95H exm405816 4 74351777 [A/T] NM_001133 AFM EXON Missense_S157T exm405825 4 74352799 [T/A] NM_001133 AFM EXON Missense_N200Y exm405826 4 74352800 [A/T] NM_001133 AFM EXON Missense_N200I exm405827 4 74353456 [A/C] NM_001133 AFM EXON Missense_Q211K exm405831 4 74353539 [T/G] NM_001133 AFM Silent exm405834 4 74354406 [T/C] NM_001133 AFM EXON Missense_L258P exm405841 4 74354474 [A/T] NM_001133 AFM EXON Missense_T281S exm405844 4 74357772 [T/C] NM_001133 AFM EXON Nonsense_R343X exm2078812 4 74357800 [A/C] NM_001133 AFM EXON Missense_A352E exm405850 4 74361028 [A/G] NM_001133 AFM EXON Missense_E357G exm405851 4 74361036 [A/G] NM_001133 AFM EXON Missense_R360G exm405855 4 74361142 [A/G] NM_001133 AFM EXON Missense_R395H exm405858 4 74363387 [T/A] NM_001133 AFM EXON Missense_T404S exm2274021 4 74364905 [T/A] NM_001133 AFM EXON Missense_V455E exm405868 4 74365790 [A/T] NM_001133 AFM EXON Missense_C498S exm405879 4 74442010 [A/G] NM_177532,NM_201431,NM_001270391,NM_001270392 RASSF6,RASSF6,RASSF6,RASSF6 EXON Missense_A319V,Missense_A351V,Missense_A285V,Missense_A307V exm405882 4 74442178 [A/C] NM_177532,NM_201431,NM_001270391,NM_001270392 RASSF6,RASSF6,RASSF6,RASSF6 EXON Missense_L296R,Missense_L328R,Missense_L262R,Missense_L284R exm2275753 4 74442186 [A/T] NM_177532,NM_201431,NM_001270391,NM_001270392 RASSF6,RASSF6,RASSF6,RASSF6 EXON Missense_E293D,Missense_E325D,Missense_E259D,Missense_E281D exm405885 4 74442349 [C/G] NM_177532,NM_201431,NM_001270391,NM_001270392 RASSF6,RASSF6,RASSF6,RASSF6 EXON Missense_A274G,Missense_A306G,Missense_A240G,Missense_A262G exm405888 4 74442373 [A/C] NM_177532,NM_201431,NM_001270391,NM_001270392 RASSF6,RASSF6,RASSF6,RASSF6 EXON Missense_R266L,Missense_R298L,Missense_R232L,Missense_R254L exm2274022 4 74442424 [A/T] NM_177532,NM_201431,NM_001270391,NM_001270392 RASSF6,RASSF6,RASSF6,RASSF6 EXON Missense_D249V,Missense_D281V,Missense_D215V,Missense_D237V exm405900 4 74447572 [A/G] NM_177532,NM_201431,NM_001270391,NM_001270392 RASSF6,RASSF6,RASSF6,RASSF6 EXON Missense_P228L,Missense_P260L,Missense_P194L,Missense_P216L exm405901 4 74447930 [T/C] NM_177532,NM_201431,NM_001270391,NM_001270392 RASSF6,RASSF6,RASSF6,RASSF6 EXON Missense_I215M,Missense_I247M,Silent,Missense_I203M exm405907 4 74451031 [A/G] NM_177532,NM_201431,NM_001270391,NM_001270392 RASSF6,RASSF6,RASSF6,RASSF6 EXON Missense_P145S,Missense_P177S,Missense_P145S,Missense_P133S exm405908 4 74451073 [A/G] NM_177532,NM_201431,NM_001270391,NM_001270392 RASSF6,RASSF6,RASSF6,RASSF6 EXON Missense_S131P,Missense_S163P,Missense_S131P,Missense_S119P exm405911 4 74453616 [T/C] NM_177532,NM_201431,NM_001270391,NM_001270392 RASSF6,RASSF6,RASSF6,RASSF6 EXON Missense_R108H,Missense_R140H,Missense_R108H,Missense_R96H exm405912 4 74453617 [A/G] NM_177532,NM_201431,NM_001270391,NM_001270392 RASSF6,RASSF6,RASSF6,RASSF6 EXON Missense_R108C,Missense_R140C,Missense_R108C,Missense_R96C exm405915 4 74453632 [A/G] NM_177532,NM_201431,NM_001270391,NM_001270392 RASSF6,RASSF6,RASSF6,RASSF6 EXON Missense_F103L,Missense_F135L,Missense_F103L,Missense_F91L exm405916 4 74453634 [A/T] NM_177532,NM_201431,NM_001270391,NM_001270392 RASSF6,RASSF6,RASSF6,RASSF6 EXON Missense_E102V,Missense_E134V,Missense_E102V,Missense_E90V exm405917 4 74453635 [T/C] NM_177532,NM_201431,NM_001270391,NM_001270392 RASSF6,RASSF6,RASSF6,RASSF6 EXON Missense_E102K,Missense_E134K,Missense_E102K,Missense_E90K exm405923 4 74459184 [T/C] NM_177532,NM_201431,NM_001270391,NM_001270392 RASSF6,RASSF6,RASSF6,RASSF6 EXON Missense_V91I,Missense_V123I,Missense_V91I,Missense_V79I exm405924 4 74459210 [T/G] NM_177532,NM_201431,NM_001270391,NM_001270392 RASSF6,RASSF6,RASSF6,RASSF6 EXON Missense_S82Y,Missense_S114Y,Missense_S82Y,Missense_S70Y exm405929 4 74459311 [T/C] NM_177532,NM_201431,NM_001270391,NM_001270392 RASSF6,RASSF6,RASSF6,RASSF6 Silent,Silent,Silent,Silent exm405931 4 74464386 [T/G] NM_177532,NM_201431,NM_001270391,NM_001270392 RASSF6,RASSF6,RASSF6,RASSF6 EXON Missense_Q39K,Missense_Q71K,Missense_Q39K,Silent exm405936 4 74477489 [T/G] NM_177532,NM_201431,NM_001270391,NM_001270392 RASSF6,RASSF6,RASSF6,RASSF6 EXON Nonsense_Y8X,Nonsense_Y40X,Nonsense_Y8X,Silent exm405938 4 74477505 [A/G] NM_177532,NM_201431,NM_001270391,NM_001270392 RASSF6,RASSF6,RASSF6,RASSF6 EXON Missense_M3T,Missense_M35T,Missense_M3T,Silent exm405941 4 74477529 [A/G] NM_177532,NM_201431,NM_001270391,NM_001270392 RASSF6,RASSF6,RASSF6,RASSF6 EXON Silent,Missense_L27P,Silent,Silent exm405956 4 74607285 [T/G] NM_000584 IL8 EXON Nonsense_E31X exm405961 4 74607328 [A/G] NM_000584 IL8 EXON Missense_H45R exm405990 4 74702951 [C/G] NM_002993 CXCL6 EXON Missense_L92V exm2264095 4 74718941 [A/C] exm406006 4 74719089 [T/G] NM_002620 PF4V1 EXON Missense_A4S exm2256720 4 74719519 [A/G] NM_002620 PF4V1 EXON Synonymous_G40G exm406017 4 74719604 [T/C] NM_002620 PF4V1 EXON Missense_H69Y exm406023 4 74719783 [T/A] NM_002620 PF4V1 EXON Missense_L87M exm2078920 4 74847598 [T/C] NM_002619 PF4 EXON Missense_V25M exm406078 4 74853684 [A/G] NM_002704 PPBP EXON Missense_A46V exm2078928 4 74853703 [C/G] NM_002704 PPBP EXON Missense_Q40E exm406090 4 74863730 [G/C] NM_002994 CXCL5 EXON Missense_G109R exm2269776 4 74903134 [T/C] NM_002090 CXCL3 Silent exm-rs546829 4 74956372 [A/T] exm406132 4 74964625 [T/C] NM_002089 CXCL2 EXON Missense_T39A exm-rs1371799 4 74977837 [T/C] exm406150 4 75040404 [A/G] NM_001144978 MTHFD2L EXON Missense_V109I exm2265846 4 75052592 [A/G] NM_001144978 MTHFD2L Silent exm406163 4 75065541 [A/G] NM_001144978 MTHFD2L EXON Missense_G161E exm406170 4 75065622 [T/C] NM_001144978 MTHFD2L EXON Missense_P188L exm406178 4 75067064 [A/C] NM_001144978 MTHFD2L EXON Missense_D230A exm406180 4 75091018 [C/G] NM_001144978 MTHFD2L Silent exm406182 4 75091063 [T/C] NM_001144978 MTHFD2L EXON Nonsense_Q253X exm406185 4 75147160 [T/C] NM_001144978 MTHFD2L EXON Missense_T275M exm406187 4 75147198 [A/G] NM_001144978 MTHFD2L EXON Missense_V288M exm406189 4 75147228 [A/C] NM_001144978 MTHFD2L EXON Missense_T298P exm406198 4 75174292 [T/C] NR_073114,NM_001270992,NM_001270991,NM_001270990,NM_001270989,NM_001270993,NR_073117 EPGN,EPGN,EPGN,EPGN,EPGN,EPGN,EPGN EXON Silent,Synonymous_N14N,Synonymous_N14N,Synonymous_N14N,Synonymous_N14N,Synonymous_N14N,Silent exm406204 4 75177911 [T/C] NR_073114,NM_001270992,NM_001270991,NM_001270990,NM_001270989,NM_001270993,NR_073117 EPGN,EPGN,EPGN,EPGN,EPGN,EPGN,EPGN EXON Silent,Missense_I48T,Missense_I39T,Missense_I48T,Missense_I48T,Missense_I39T,Silent exm406214 4 75178782 [T/C] NR_073114,NM_001270992,NM_001270991,NM_001270990,NM_001270989,NM_001270993,NR_073117 EPGN,EPGN,EPGN,EPGN,EPGN,EPGN,EPGN EXON Silent,Silent,Silent,Silent,Missense_T101I,Silent,Silent exm406218 4 75178877 [A/G] NR_073114,NM_001270992,NM_001270991,NM_001270990,NM_001270989,NM_001270993,NR_073117 EPGN,EPGN,EPGN,EPGN,EPGN,EPGN,EPGN EXON Silent,Silent,Silent,Silent,Missense_I133V,Silent,Silent exm2269777 4 75202049 [T/C] exm-rs1350666 4 75224590 [T/C] exm406235 4 75246762 [A/T] NM_001432 EREG EXON Missense_Q62H exm406242 4 75248373 [A/G] NM_001432 EREG EXON Missense_G97D exm406251 4 75250455 [A/G] NM_001432 EREG EXON Missense_R147Q exm406269 4 75312428 [T/A] NM_001657 AREG EXON Missense_D80V exm2241269 4 75673298 [T/C] NM_001729 BTC EXON Missense_D164N exm406288 4 75673342 [T/C] NM_001729 BTC EXON Missense_R149H exm406289 4 75673351 [T/C] NM_001729 BTC EXON Missense_R146Q exm406292 4 75675799 [A/C] NM_001729 BTC EXON Missense_V138F exm406294 4 75675814 [T/C] NM_001729 BTC EXON Missense_I133V exm406295 4 75675841 [T/A] NM_001729 BTC EXON Missense_L124M exm406301 4 75675924 [T/C] NM_001729 BTC EXON Missense_D96G exm406305 4 75681081 [A/G] NM_001729 BTC EXON Missense_T90M exm406311 4 75681135 [T/G] NM_001729 BTC EXON Missense_Q72P exm2265720 4 75681217 [A/G] NM_001729 BTC Silent exm406316 4 75695286 [A/G] NM_001729 BTC EXON Missense_P49S exm406317 4 75695301 [A/G] NM_001729 BTC EXON Missense_L44F exm406318 4 75695345 [A/G] NM_001729 BTC EXON Missense_V29A exm2079031 4 75858580 [T/G] NM_015393 PARM1 EXON Nonsense_G15X exm406336 4 75937800 [T/C] NM_015393 PARM1 EXON Missense_A70V exm406340 4 75937886 [A/G] NM_015393 PARM1 EXON Missense_G99S exm406344 4 75937914 [G/C] NM_015393 PARM1 EXON Missense_G108A exm406350 4 75938015 [A/G] NM_015393 PARM1 EXON Missense_A142T exm406353 4 75938108 [A/G] NM_015393 PARM1 EXON Missense_V173I exm406358 4 75938178 [T/C] NM_015393 PARM1 EXON Missense_P196L exm406374 4 75971374 [T/C] NM_015393 PARM1 EXON Missense_H284Y exm406377 4 75971432 [A/G] NM_015393 PARM1 EXON Missense_N303S exm-rs1365162 4 75993726 [A/G] exm2265847 4 76031576 [A/G] exm2265721 4 76254408 [A/G] exm406385 4 76415885 [T/C] NR_037913,NM_001009922,NM_001008925,NM_015436,NR_037914 RCHY1,RCHY1,RCHY1,RCHY1,RCHY1 EXON Silent,Missense_H179R,Synonymous_A187A,Missense_H188R,Silent exm406424 4 76442044 [A/G] NM_144721 THAP6 EXON Missense_N48S exm406427 4 76442052 [A/G] NM_144721 THAP6 EXON Missense_G51S exm2079075 4 76442163 [A/G] NM_144721 THAP6 EXON Missense_I88V exm2079080 4 76447062 [G/C] NM_144721 THAP6 EXON Missense_Q135H exm406444 4 76452174 [A/C] NM_144721 THAP6 EXON Missense_H140P exm406445 4 76452176 [A/G] NM_144721 THAP6 EXON Missense_S141G exm406448 4 76452233 [A/G] NM_144721 THAP6 EXON Missense_G160S exm406453 4 76452302 [A/T] NM_144721 THAP6 EXON Missense_L183M exm2079084 4 76452357 [T/C] NM_144721 THAP6 EXON Missense_A201V exm2079085 4 76452375 [T/C] NM_144721 THAP6 EXON Missense_F207S exm406459 4 76481300 [A/G] NM_178497,NM_001257072,NR_046429,NM_001206981,NR_046430 C4orf26,C4orf26,C4orf26,C4orf26,C4orf26 EXON Missense_R3H,Missense_R3H,Silent,Missense_R3H,Silent exm406464 4 76489345 [T/C] NM_178497,NM_001257072,NR_046429,NM_001206981,NR_046430 C4orf26,C4orf26,C4orf26,C4orf26,C4orf26 EXON Missense_P30L,Missense_P30L,Silent,Missense_L45F,Silent exm406465 4 76489374 [T/G] NM_178497,NM_001257072,NR_046429,NM_001206981,NR_046430 C4orf26,C4orf26,C4orf26,C4orf26,C4orf26 EXON Missense_A40S,Missense_A40S,Silent,Synonymous_T54T,Silent exm406466 4 76489380 [A/G] NM_178497,NM_001257072,NR_046429,NM_001206981,NR_046430 C4orf26,C4orf26,C4orf26,C4orf26,C4orf26 EXON Missense_D42N,Missense_D42N,Silent,Synonymous_P56P,Silent exm406470 4 76489464 [T/C] NM_178497,NM_001257072,NR_046429,NM_001206981,NR_046430 C4orf26,C4orf26,C4orf26,C4orf26,C4orf26 EXON Missense_C70R,Silent,Silent,Synonymous_G84G,Silent exm406475 4 76489533 [T/C] NM_178497,NM_001257072,NR_046429,NM_001206981,NR_046430 C4orf26,C4orf26,C4orf26,C4orf26,C4orf26 EXON Missense_S93P,Silent,Silent,Synonymous_L107L,Silent exm406476 4 76489550 [T/C] NM_178497,NM_001257072,NR_046429,NM_001206981,NR_046430 C4orf26,C4orf26,C4orf26,C4orf26,C4orf26 EXON Synonymous_R98R,Silent,Silent,Missense_V113A,Silent exm406479 4 76489582 [A/G] NM_178497,NM_001257072,NR_046429,NM_001206981,NR_046430 C4orf26,C4orf26,C4orf26,C4orf26,C4orf26 EXON Missense_R109H,Silent,Silent,Missense_V124I,Silent exm406480 4 76489584 [T/C] NM_178497,NM_001257072,NR_046429,NM_001206981,NR_046430 C4orf26,C4orf26,C4orf26,C4orf26,C4orf26 EXON Missense_Y110H,Silent,Silent,Synonymous_V124V,Silent exm406490 4 76521525 [T/C] NM_003948 CDKL2 Silent exm406495 4 76522209 [A/G] NM_003948 CDKL2 EXON Missense_A411V exm406496 4 76522213 [T/C] NM_003948 CDKL2 EXON Missense_V410M exm406512 4 76525532 [T/C] NM_003948 CDKL2 EXON Missense_D273N exm406518 4 76529013 [T/C] NM_003948 CDKL2 EXON Missense_I261M exm406520 4 76529038 [T/C] NM_003948 CDKL2 EXON Missense_Y253C exm406521 4 76529042 [A/G] NM_003948 CDKL2 EXON Missense_R252C exm2079118 4 76530796 [A/C] NM_003948 CDKL2 EXON Missense_G189C exm406527 4 76532493 [A/G] NM_003948 CDKL2 EXON Missense_V139A exm2079127 4 76551025 [A/G] NM_003948 CDKL2 EXON Nonsense_R50X exm406559 4 76579196 [A/G] NM_203504,NM_012297,NM_203505 G3BP2,G3BP2,G3BP2 EXON Silent,Missense_P266S,Missense_P266S exm406567 4 76580368 [T/C] NM_203504,NM_012297,NM_203505 G3BP2,G3BP2,G3BP2 EXON Missense_E203G,Missense_E203G,Missense_E203G exm406573 4 76582784 [T/C] NM_203504,NM_012297,NM_203505 G3BP2,G3BP2,G3BP2 EXON Missense_Q103R,Missense_Q103R,Missense_Q103R exm406596 4 76695830 [A/G] NM_003715 USO1 EXON Missense_A136T exm406597 4 76695831 [T/C] NM_003715 USO1 EXON Missense_A136V exm406598 4 76695906 [A/G] NM_003715 USO1 EXON Missense_R161K exm406599 4 76695927 [A/G] NM_003715 USO1 EXON Missense_Q168R exm406603 4 76703975 [T/G] NM_003715 USO1 EXON Missense_L223R exm406605 4 76704004 [T/C] NM_003715 USO1 EXON Missense_C233R exm2274023 4 76708226 [A/G] NM_003715 USO1 EXON Missense_Y239C exm406608 4 76708345 [T/C] NM_003715 USO1 EXON Missense_S279P exm406616 4 76711919 [T/C] NM_003715 USO1 EXON Missense_S353L exm406625 4 76720885 [T/C] NM_003715 USO1 EXON Missense_F471S exm406628 4 76721583 [T/C] NM_003715 USO1 EXON Nonsense_R498X exm406629 4 76721584 [A/G] NM_003715 USO1 EXON Missense_R498Q exm406630 4 76721810 [A/C] NM_003715 USO1 EXON Missense_K524T exm406638 4 76722349 [A/G] NM_003715 USO1 EXON Missense_S611G exm406639 4 76722353 [A/G] NM_003715 USO1 EXON Missense_R612K exm406642 4 76725313 [A/G] NM_003715 USO1 EXON Missense_S621N exm406647 4 76726294 [A/G] NM_003715 USO1 EXON Missense_E659G exm406649 4 76726447 [T/C] NM_003715 USO1 EXON Missense_L710S exm406650 4 76727641 [A/G] NM_003715 USO1 EXON Missense_N714S exm406652 4 76730178 [G/C] NM_003715 USO1 EXON Missense_R766S exm406654 4 76730195 [A/G] NM_003715 USO1 EXON Missense_Q772R exm406655 4 76730201 [A/G] NM_003715 USO1 EXON Missense_R774H exm406656 4 76731585 [A/G] NM_003715 USO1 EXON Synonymous_L775L exm406661 4 76731684 [C/G] NM_003715 USO1 EXON Missense_K808N exm406663 4 76733389 [T/C] NM_003715 USO1 EXON Missense_F837L exm406682 4 76782056 [T/C] NM_006239 PPEF2 EXON Missense_E676K exm406685 4 76785594 [T/G] NM_006239 PPEF2 EXON Synonymous_S669S exm406686 4 76785641 [A/G] NM_006239 PPEF2 EXON Nonsense_R654X exm406690 4 76787346 [T/C] NM_006239 PPEF2 EXON Missense_R639H exm406695 4 76787439 [A/C] NM_006239 PPEF2 EXON Missense_R608L exm406696 4 76787440 [C/G] NM_006239 PPEF2 EXON Missense_R608G exm406698 4 76788499 [A/T] NM_006239 PPEF2 EXON Missense_S575C exm406701 4 76788564 [T/C] NM_006239 PPEF2 EXON Missense_R553K exm406705 4 76793217 [T/C] NM_006239 PPEF2 EXON Missense_Q537R exm406713 4 76794311 [A/G] NM_006239 PPEF2 EXON Missense_P492L exm406714 4 76794345 [T/G] NM_006239 PPEF2 EXON Missense_M481L exm-IND4-77013474 4 76794451 [D/I] NM_006239 PPEF2 EXON exm406726 4 76797526 [T/C] NM_006239 PPEF2 EXON Missense_E412K exm406730 4 76797565 [G/C] NM_006239 PPEF2 EXON Missense_E399Q exm406732 4 76797580 [C/G] NM_006239 PPEF2 EXON Missense_V394L exm406735 4 76797597 [T/C] NM_006239 PPEF2 EXON Missense_R388Q exm406740 4 76797652 [T/C] NM_006239 PPEF2 EXON Missense_S370G exm406743 4 76797739 [A/G] NM_006239 PPEF2 EXON Nonsense_Q341X exm406744 4 76797756 [T/C] NM_006239 PPEF2 EXON Missense_N335S exm2241281 4 76804222 [T/C] NM_006239 PPEF2 EXON Missense_G264R exm406755 4 76805745 [A/G] NM_006239 PPEF2 Silent exm406779 4 76809385 [T/C] NM_006239 PPEF2 EXON Missense_E172K exm406781 4 76809396 [A/G] NM_006239 PPEF2 EXON Missense_T168I exm406788 4 76811175 [T/G] NM_006239 PPEF2 EXON Missense_R118S exm406791 4 76811193 [T/C] NM_006239 PPEF2 EXON Missense_D112N exm406792 4 76811223 [A/G] NM_006239 PPEF2 EXON Missense_C102R exm406795 4 76811249 [A/C] NM_006239 PPEF2 EXON Missense_F93C exm406796 4 76811270 [T/C] NM_006239 PPEF2 EXON Missense_R86H exm406801 4 76812831 [T/C] NM_006239 PPEF2 EXON Missense_D71N exm406807 4 76813036 [A/T] NM_006239 PPEF2 EXON Missense_I51L exm406810 4 76813062 [T/C] NM_006239 PPEF2 EXON Missense_R42H exm406811 4 76813080 [T/C] NM_006239 PPEF2 EXON Missense_R36H exm406816 4 76817469 [T/C] NM_006239 PPEF2 EXON Missense_G4S exm406820 4 76836110 [T/C] NM_001042402,NM_014435 NAAA,NAAA EXON Silent,Missense_A343T exm406822 4 76836137 [A/G] NM_001042402,NM_014435 NAAA,NAAA EXON Silent,Missense_F334L exm406824 4 76839937 [A/C] NM_001042402,NM_014435 NAAA,NAAA EXON Silent,Missense_L325F exm406827 4 76841062 [T/C] NM_001042402,NM_014435 NAAA,NAAA EXON Synonymous_Q323Q,Synonymous_Q323Q exm406835 4 76842103 [T/C] NM_001042402,NM_014435 NAAA,NAAA Silent,Silent exm406836 4 76842151 [G/C] NM_001042402,NM_014435 NAAA,NAAA EXON Missense_N264K,Missense_N264K exm406842 4 76842182 [A/G] NM_001042402,NM_014435 NAAA,NAAA EXON Missense_S254F,Missense_S254F exm406844 4 76842185 [A/G] NM_001042402,NM_014435 NAAA,NAAA EXON Missense_T253M,Missense_T253M exm406848 4 76842269 [T/C] NM_001042402,NM_014435 NAAA,NAAA EXON Missense_S225N,Missense_S225N exm406850 4 76842275 [A/G] NM_001042402,NM_014435 NAAA,NAAA EXON Missense_T223I,Missense_T223I exm2269778 4 76846755 [T/C] NM_001042402,NM_014435 NAAA,NAAA Silent,Silent exm406862 4 76857302 [T/C] NM_001042402,NM_014435 NAAA,NAAA EXON Missense_R153H,Missense_R153H exm406864 4 76857309 [T/C] NM_001042402,NM_014435 NAAA,NAAA EXON Missense_V151I,Missense_V151I exm406869 4 76857388 [T/C] NM_001042402,NM_014435 NAAA,NAAA EXON Synonymous_V124V,Synonymous_V124V exm406875 4 76861175 [T/C] NM_001042402,NM_014435 NAAA,NAAA EXON Missense_N117S,Missense_N117S exm406876 4 76861204 [T/G] NM_001042402,NM_014435 NAAA,NAAA EXON Missense_N107K,Missense_N107K exm406878 4 76861233 [T/C] NM_001042402,NM_014435 NAAA,NAAA EXON Missense_E98K,Missense_E98K exm406880 4 76861304 [T/C] NM_001042402,NM_014435 NAAA,NAAA EXON Missense_K74R,Missense_K74R exm406881 4 76861316 [T/C] NM_001042402,NM_014435 NAAA,NAAA EXON Missense_D70G,Missense_D70G exm406895 4 76871949 [A/C] NM_018115 SDAD1 EXON Missense_L673W exm406897 4 76877147 [T/C] NM_018115 SDAD1 EXON Missense_R666H exm406898 4 76877148 [A/G] NM_018115 SDAD1 EXON Missense_R666C exm406900 4 76877166 [T/C] NM_018115 SDAD1 EXON Missense_V660I exm406906 4 76877285 [C/G] NM_018115 SDAD1 EXON Missense_G620A exm406911 4 76878530 [T/C] NM_018115 SDAD1 EXON Missense_R601H exm406913 4 76878548 [T/G] NM_018115 SDAD1 EXON Missense_S595Y exm406917 4 76878716 [G/C] NM_018115 SDAD1 EXON Missense_S575C exm406927 4 76878836 [A/G] NM_018115 SDAD1 EXON Missense_M535T exm406929 4 76878857 [T/C] NM_018115 SDAD1 EXON Missense_K528R exm406937 4 76881233 [T/G] NM_018115 SDAD1 EXON Missense_A490D exm406938 4 76881285 [T/C] NM_018115 SDAD1 EXON Missense_K473E exm2079289 4 76882438 [A/G] NM_018115 SDAD1 EXON Missense_T402I exm-rs2273 4 76889388 [T/C] NM_018115 SDAD1 Silent exm406966 4 76890546 [A/G] NM_018115 SDAD1 EXON Missense_A297V exm406968 4 76891472 [A/G] NM_018115 SDAD1 EXON Synonymous_H291H exm2256727 4 76891472 [A/G] NM_018115 SDAD1 EXON Synonymous_H291H exm406977 4 76892610 [T/C] NM_018115 SDAD1 EXON Missense_D238G exm2241286 4 76895260 [A/G] NM_018115 SDAD1 EXON Missense_I202T exm406986 4 76896921 [A/G] NM_018115 SDAD1 EXON Missense_I185T exm2241287 4 76896972 [A/G] NM_018115 SDAD1 EXON Missense_M168T exm406996 4 76898867 [T/C] NM_018115 SDAD1 EXON Missense_I113V exm407001 4 76902572 [G/C] NM_018115 SDAD1 EXON Missense_D83H exm407017 4 76924756 [T/C] NM_002416 CXCL9 EXON Missense_T125A exm407033 4 76943085 [A/G] NM_001130017,NM_001565 ART3,CXCL10 EXON Silent,Missense_X99Q exm407040 4 76943947 [A/G] NM_001130017,NM_001565 ART3,CXCL10 EXON Silent,Missense_R29C exm407044 4 76955947 [A/T] NM_001130017,NM_005409 ART3,CXCL11 EXON Silent,Missense_X95L exm407053 4 76956246 [T/C] NM_001130017,NM_005409 ART3,CXCL11 EXON Silent,Missense_Q72R exm407069 4 76997050 [T/C] NM_001130017,NM_001130016,NM_001179 ART3,ART3,ART3 EXON Missense_T3M,Missense_T3M,Missense_T3M exm407079 4 77003070 [A/C] NM_001130017,NM_001130016,NM_001179 ART3,ART3,ART3 EXON Missense_L55M,Missense_L55M,Missense_L55M exm407083 4 77003203 [A/T] NM_001130017,NM_001130016,NM_001179 ART3,ART3,ART3 EXON Missense_M99K,Missense_M99K,Missense_M99K exm407085 4 77003212 [T/C] NM_001130017,NM_001130016,NM_001179 ART3,ART3,ART3 EXON Missense_I102T,Missense_I102T,Missense_I102T exm407098 4 77003484 [A/G] NM_001130017,NM_001130016,NM_001179 ART3,ART3,ART3 EXON Missense_A193T,Missense_A193T,Missense_A193T exm2241290 4 77003490 [A/G] NM_001130017,NM_001130016,NM_001179 ART3,ART3,ART3 EXON Missense_N195D,Missense_N195D,Missense_N195D exm407099 4 77003520 [A/C] NM_001130017,NM_001130016,NM_001179 ART3,ART3,ART3 EXON Missense_T205P,Missense_T205P,Missense_T205P exm407100 4 77003525 [A/C] NM_001130017,NM_001130016,NM_001179 ART3,ART3,ART3 EXON Nonsense_C206X,Nonsense_C206X,Nonsense_C206X exm407106 4 77018806 [C/G] NM_001130017,NM_001130016,NM_001179 ART3,ART3,ART3 EXON Missense_T264S,Missense_T264S,Missense_T264S exm407114 4 77021442 [A/C] NM_001130017,NM_001130016,NM_001179 ART3,ART3,ART3 Silent,Silent,Silent exm407118 4 77021968 [A/G] NM_001130017,NM_001130016,NM_001179 ART3,ART3,ART3 EXON Missense_E300K,Missense_E300K,Missense_E300K exm407122 4 77022143 [A/G] NM_001130017,NM_001130016,NM_001179 ART3,ART3,ART3 EXON Missense_G303D,Missense_G303D,Missense_G303D exm2256730 4 77028939 [T/C] NM_001130017,NM_001130016,NM_001179 ART3,ART3,ART3 EXON Silent,Synonymous_N343N,Synonymous_N332N exm407135 4 77028939 [T/C] NM_001130017,NM_001130016,NM_001179 ART3,ART3,ART3 EXON Silent,Synonymous_N343N,Synonymous_N332N exm407141 4 77033590 [T/C] NM_001130017,NM_001130016,NM_001179 ART3,ART3,ART3 EXON Missense_S341L,Missense_S363L,Missense_S352L exm407145 4 77033659 [T/C] NM_001130017,NM_001130016,NM_001179 ART3,ART3,ART3 EXON Missense_F364S,Missense_F386S,Missense_F375S exm407158 4 77038912 [T/A] NM_017426 NUP54 EXON Missense_L434M exm407171 4 77045812 [T/C] NM_017426 NUP54 EXON Missense_R385K exm407191 4 77053834 [T/C] NM_017426 NUP54 EXON Missense_N250S exm407201 4 77057438 [C/G] NM_017426 NUP54 EXON Missense_W141C exm407210 4 77065379 [T/G] NM_017426 NUP54 EXON Missense_T73N exm407224 4 77084386 [T/C] NM_001204255,NM_005506 SCARB2,SCARB2 EXON Missense_M321V,Missense_M464V exm2079395 4 77084391 [T/C] NM_001204255,NM_005506 SCARB2,SCARB2 EXON Missense_G319E,Missense_G462E exm407231 4 77084514 [A/G] NM_001204255,NM_005506 SCARB2,SCARB2 EXON Missense_T278M,Missense_T421M exm407236 4 77087432 [T/C] NM_001204255,NM_005506 SCARB2,SCARB2 EXON Missense_M261V,Missense_M404V exm2261759 4 77087704 [T/G] NM_001204255,NM_005506 SCARB2,SCARB2 Silent,Silent exm407237 4 77089557 [T/C] NM_001204255,NM_005506 SCARB2,SCARB2 EXON Missense_V253I,Missense_V396I exm407243 4 77091123 [A/G] NM_001204255,NM_005506 SCARB2,SCARB2 EXON Missense_M194T,Missense_M337T exm407248 4 77095372 [T/C] NM_001204255,NM_005506 SCARB2,SCARB2 EXON Missense_D164N,Missense_D307N exm2274024 4 77095377 [A/G] NM_001204255,NM_005506 SCARB2,SCARB2 EXON Missense_T162M,Missense_T305M exm407258 4 77100807 [T/C] NM_001204255,NM_005506 SCARB2,SCARB2 EXON Silent,Missense_M159V exm407259 4 77100837 [T/C] NM_001204255,NM_005506 SCARB2,SCARB2 EXON Silent,Missense_V149M exm2079406 4 77100852 [A/T] NM_001204255,NM_005506 SCARB2,SCARB2 EXON Silent,Missense_I144L exm407265 4 77102148 [C/G] NM_001204255,NM_005506 SCARB2,SCARB2 EXON Silent,Missense_P128A exm407266 4 77102151 [A/C] NM_001204255,NM_005506 SCARB2,SCARB2 EXON Silent,Missense_D127Y exm407267 4 77102168 [T/C] NM_001204255,NM_005506 SCARB2,SCARB2 EXON Silent,Missense_R121Q exm407268 4 77102169 [A/G] NM_001204255,NM_005506 SCARB2,SCARB2 EXON Silent,Nonsense_R121X exm407273 4 77102253 [T/C] NM_001204255,NM_005506 SCARB2,SCARB2 EXON Silent,Missense_E93K exm407275 4 77116891 [A/G] NM_001204255,NM_005506 SCARB2,SCARB2 EXON Missense_R82W,Missense_R82W exm2256731 4 77116907 [A/G] NM_001204255,NM_005506 SCARB2,SCARB2 EXON Synonymous_L76L,Synonymous_L76L exm407277 4 77116941 [T/C] NM_001204255,NM_005506 SCARB2,SCARB2 EXON Missense_Y65C,Missense_Y65C exm-rs10032423 4 77140733 [T/C] NM_001242936 FAM47E Silent exm407298 4 77184996 [T/C] NM_001242936,NM_001242939,NM_001136570 FAM47E,FAM47E-STBD1,FAM47E EXON Missense_P74L,Missense_P187L,Missense_P187L exm407299 4 77184997 [A/G] NM_001242936,NM_001242939,NM_001136570 FAM47E,FAM47E-STBD1,FAM47E Silent,Silent,Silent exm407302 4 77189868 [T/C] NM_001242936,NM_001242939,NM_001136570 FAM47E,FAM47E-STBD1,FAM47E EXON Missense_H93Y,Missense_H206Y,Missense_H206Y exm407310 4 77192838 [A/C] NM_001242936,NM_001242939,NM_001136570 FAM47E,FAM47E-STBD1,FAM47E EXON Missense_K165Q,Missense_K263Q,Missense_K263Q exm407311 4 77192868 [A/G] NM_001242936,NM_001242939,NM_001136570 FAM47E,FAM47E-STBD1,FAM47E EXON Missense_E175K,Missense_E273K,Missense_E273K exm-rs6812193 4 77198986 [T/C] NM_001242936,NM_001242939,NM_001136570 FAM47E,FAM47E-STBD1,FAM47E Silent,Silent,Silent exm407314 4 77201487 [T/C] NM_001242936,NM_001242939,NM_001136570 FAM47E,FAM47E-STBD1,FAM47E EXON Missense_T268M,Silent,Missense_T366M exm407316 4 77204570 [T/C] NM_001242936,NM_001242939,NM_001136570 FAM47E,FAM47E-STBD1,FAM47E EXON Missense_R283C,Silent,Missense_R381C exm407317 4 77204597 [T/C] NM_001242936,NM_001242939,NM_001136570 FAM47E,FAM47E-STBD1,FAM47E EXON Nonsense_R292X,Silent,Nonsense_R390X exm407323 4 77228006 [A/C] NM_001242939,NM_003943 FAM47E-STBD1,STBD1 EXON Silent,Synonymous_G28G exm407324 4 77228007 [A/G] NM_001242939,NM_003943 FAM47E-STBD1,STBD1 EXON Silent,Missense_D29N exm407326 4 77228043 [T/G] NM_001242939,NM_003943 FAM47E-STBD1,STBD1 EXON Silent,Missense_D41Y exm407328 4 77228059 [A/G] NM_001242939,NM_003943 FAM47E-STBD1,STBD1 EXON Silent,Missense_G46E exm407330 4 77230359 [A/G] NM_001242939,NM_003943 FAM47E-STBD1,STBD1 EXON Silent,Missense_A95T exm407333 4 77230411 [A/G] NM_001242939,NM_003943 FAM47E-STBD1,STBD1 EXON Silent,Missense_R112K exm2241292 4 77230533 [T/C] NM_001242939,NM_003943 FAM47E-STBD1,STBD1 EXON Silent,Missense_W153R exm407353 4 77231023 [A/C] NM_001242939,NM_003943 FAM47E-STBD1,STBD1 EXON Silent,Missense_D316A exm2079438 4 77231046 [A/G] NM_001242939,NM_003943 FAM47E-STBD1,STBD1 EXON Silent,Missense_V324M exm407356 4 77231101 [T/C] NM_001242939,NM_003943 FAM47E-STBD1,STBD1 EXON Silent,Missense_L342P exm407358 4 77231139 [T/C] NM_001242939,NM_003943 FAM47E-STBD1,STBD1 EXON Silent,Missense_W355R exm407364 4 77234376 [T/G] NM_001042784 CCDC158 EXON Missense_Q1097K exm407371 4 77244557 [A/G] NM_001042784 CCDC158 EXON Nonsense_Q1055X exm407377 4 77247061 [T/C] NM_001042784 CCDC158 EXON Missense_T1036A exm407378 4 77247075 [T/C] NM_001042784 CCDC158 EXON Missense_G1031D exm407381 4 77247139 [A/G] NM_001042784 CCDC158 EXON Missense_R1010C exm407387 4 77250101 [T/C] NM_001042784 CCDC158 EXON Missense_A984T exm2079453 4 77253584 [T/C] NM_001042784 CCDC158 Silent exm407396 4 77255178 [C/G] NM_001042784 CCDC158 EXON Missense_A936G exm407416 4 77272886 [T/G] NM_001042784 CCDC158 EXON Missense_T842N exm407418 4 77272926 [A/G] NM_001042784 CCDC158 EXON Missense_R829C exm407422 4 77274305 [T/C] NM_001042784 CCDC158 EXON Missense_V806I exm407423 4 77274306 [G/C] NM_001042784 CCDC158 EXON Missense_K805N exm407429 4 77274368 [T/C] NM_001042784 CCDC158 EXON Missense_K785E exm407430 4 77276512 [G/C] NM_001042784 CCDC158 EXON Missense_Q751E exm2079471 4 77278649 [A/C] NM_001042784 CCDC158 EXON Missense_R684L exm407432 4 77278650 [A/G] NM_001042784 CCDC158 EXON Nonsense_R684X exm407433 4 77278678 [T/C] NM_001042784 CCDC158 EXON Synonymous_E674E exm407440 4 77283381 [T/C] NM_001042784 CCDC158 EXON Missense_A640T exm2079479 4 77288683 [T/C] NM_001042784 CCDC158 EXON Missense_E532K exm407450 4 77288760 [T/C] NM_001042784 CCDC158 EXON Missense_Q506R exm407452 4 77288833 [T/C] NM_001042784 CCDC158 EXON Missense_E482K exm407453 4 77288836 [T/C] NM_001042784 CCDC158 EXON Missense_V481I exm407455 4 77288866 [C/G] NM_001042784 CCDC158 EXON Missense_E471Q exm407456 4 77288874 [T/G] NM_001042784 CCDC158 EXON Missense_A468D exm407462 4 77290579 [T/C] NM_001042784 CCDC158 EXON Synonymous_Q449Q exm407467 4 77290670 [T/C] NM_001042784 CCDC158 EXON Missense_R419Q exm407470 4 77290721 [T/C] NM_001042784 CCDC158 EXON Missense_R402H exm407473 4 77290760 [T/C] NM_001042784 CCDC158 EXON Missense_R389K exm2079489 4 77292577 [T/C] NM_001042784 CCDC158 EXON Missense_K381R exm407483 4 77300483 [T/C] NM_001042784 CCDC158 EXON Missense_R330H exm407487 4 77303788 [T/C] NM_001042784 CCDC158 EXON Missense_I297V exm407490 4 77303832 [T/C] NM_001042784 CCDC158 EXON Missense_G282E exm407493 4 77304865 [T/G] NM_001042784 CCDC158 EXON Missense_K251N exm407498 4 77305320 [T/C] NM_001042784 CCDC158 EXON Missense_R216H exm407501 4 77305356 [A/C] NM_001042784 CCDC158 EXON Missense_I204R exm407515 4 77305566 [T/C] NM_001042784 CCDC158 EXON Missense_R134Q exm407517 4 77305720 [G/C] NM_001042784 CCDC158 EXON Missense_M129I exm407526 4 77317607 [A/G] NM_001042784 CCDC158 EXON Missense_R35C exm2079514 4 77317630 [T/C] NM_001042784 CCDC158 EXON Missense_S27N exm407530 4 77324343 [A/C] NM_001042784 CCDC158 EXON Missense_W6C exm407534 4 77357273 [A/G] NM_020859 SHROOM3 EXON Missense_G23E exm407536 4 77357309 [T/G] NM_020859 SHROOM3 EXON Missense_G35V exm-rs9992101 4 77360431 [A/G] NM_020859 SHROOM3 Silent exm-rs17319721 4 77368847 [A/G] NM_020859 SHROOM3 Silent exm-rs13146355 4 77412140 [A/G] NM_020859 SHROOM3 Silent exm-rs13106227 4 77418681 [A/G] NM_020859 SHROOM3 Silent exm2269779 4 77419073 [T/C] NM_020859 SHROOM3 Silent exm-rs1986734 4 77420784 [T/C] NM_020859 SHROOM3 Silent exm407540 4 77476772 [T/G] NM_020859 SHROOM3 EXON Missense_G60V exm407548 4 77476909 [C/G] NM_020859 SHROOM3 EXON Missense_V106L exm407555 4 77651958 [T/C] NM_020859 SHROOM3 EXON Missense_R153C exm407558 4 77652057 [C/G] NM_020859 SHROOM3 EXON Missense_G186R exm407559 4 77652060 [T/C] NM_020859 SHROOM3 EXON Missense_P187S exm407576 4 77660162 [C/G] NM_020859 SHROOM3 EXON Missense_G279A exm2275755 4 77660266 [T/C] NM_020859 SHROOM3 EXON Missense_R314W exm407586 4 77660267 [A/G] NM_020859 SHROOM3 EXON Missense_R314Q exm407587 4 77660299 [T/G] NM_020859 SHROOM3 EXON Missense_S325A exm407588 4 77660381 [A/G] NM_020859 SHROOM3 EXON Missense_R352Q exm407590 4 77660393 [T/C] NM_020859 SHROOM3 EXON Missense_V356A exm407593 4 77660414 [A/G] NM_020859 SHROOM3 EXON Missense_Q363R exm407594 4 77660427 [T/G] NM_020859 SHROOM3 EXON Missense_S367R exm407603 4 77660566 [T/C] NM_020859 SHROOM3 EXON Missense_R414W exm407614 4 77660731 [C/G] NM_020859 SHROOM3 EXON Missense_P469A exm407620 4 77660829 [A/C] NM_020859 SHROOM3 EXON Nonsense_Y501X exm407622 4 77660860 [A/G] NM_020859 SHROOM3 EXON Missense_A512T exm407628 4 77661017 [A/C] NM_020859 SHROOM3 EXON Missense_E564A exm407632 4 77661127 [T/C] NM_020859 SHROOM3 EXON Missense_H601Y exm407635 4 77661176 [A/G] NM_020859 SHROOM3 EXON Missense_K617R exm407649 4 77661446 [A/G] NM_020859 SHROOM3 EXON Missense_K707R exm407650 4 77661479 [A/G] NM_020859 SHROOM3 EXON Missense_R718Q exm407652 4 77661500 [T/C] NM_020859 SHROOM3 EXON Missense_P725L exm407654 4 77661550 [T/C] NM_020859 SHROOM3 EXON Missense_P742S exm407659 4 77661636 [C/G] NM_020859 SHROOM3 EXON Missense_Q770H exm407664 4 77661704 [A/C] NM_020859 SHROOM3 EXON Missense_Q793P exm407667 4 77661755 [A/G] NM_020859 SHROOM3 EXON Missense_R810K exm407674 4 77661875 [A/G] NM_020859 SHROOM3 EXON Missense_N850S exm2277282 4 77662123 [T/G] NM_020859 SHROOM3 EXON Missense_S933A exm407692 4 77662361 [A/C] NM_020859 SHROOM3 EXON Missense_T1012N exm407698 4 77662486 [T/G] NM_020859 SHROOM3 EXON Missense_V1054L exm2079575 4 77663057 [T/C] NM_020859 SHROOM3 EXON Missense_P1244L exm407717 4 77670194 [A/G] NM_020859 SHROOM3 EXON Missense_G1260S exm407727 4 77675570 [A/G] NM_020859 SHROOM3 EXON Missense_V1312I exm407738 4 77675828 [T/C] NM_020859 SHROOM3 EXON Missense_P1398S exm407743 4 77675925 [A/G] NM_020859 SHROOM3 EXON Missense_R1430Q exm407749 4 77676026 [T/C] NM_020859 SHROOM3 EXON Missense_P1464S exm407752 4 77676077 [A/C] NM_020859 SHROOM3 EXON Missense_T1481P exm407756 4 77676154 [C/G] NM_020859 SHROOM3 EXON Missense_D1506E exm407757 4 77676155 [A/G] NM_020859 SHROOM3 EXON Missense_E1507K exm407763 4 77676309 [A/C] NM_020859 SHROOM3 EXON Missense_Q1558P exm2079606 4 77677618 [A/G] NM_020859 SHROOM3 EXON Missense_K1576E exm407766 4 77677646 [A/T] NM_020859 SHROOM3 EXON Missense_M1585K exm407771 4 77677742 [T/C] NM_020859 SHROOM3 EXON Missense_F1617S exm407773 4 77677750 [A/G] NM_020859 SHROOM3 EXON Missense_V1620I exm407774 4 77677759 [A/C] NM_020859 SHROOM3 EXON Missense_Q1623K exm2079610 4 77677994 [A/G] NM_020859 SHROOM3 EXON Missense_G1701D exm407786 4 77680822 [A/G] NM_020859 SHROOM3 EXON Missense_E1775K exm407792 4 77691828 [T/C] NM_020859 SHROOM3 EXON Missense_A1800V exm407795 4 77691937 [A/G] NM_020859 SHROOM3 EXON Missense_M1836I exm2256734 4 77694258 [A/G] NM_020859 SHROOM3 Silent exm407801 4 77699987 [T/C] NM_020859 SHROOM3 EXON Missense_I1883T exm407811 4 77700253 [A/G] NM_020859 SHROOM3 EXON Missense_N1972D exm407816 4 77816631 [T/C] NM_001029870 SOWAHB EXON Missense_Y791C exm407822 4 77816712 [A/G] NM_001029870 SOWAHB EXON Missense_A764V exm407826 4 77816802 [A/T] NM_001029870 SOWAHB EXON Missense_V734D exm407838 4 77817019 [T/C] NM_001029870 SOWAHB EXON Missense_D662N exm407847 4 77817325 [T/C] NM_001029870 SOWAHB EXON Missense_E560K exm407854 4 77817457 [T/C] NM_001029870 SOWAHB EXON Missense_D516N exm407859 4 77817554 [A/C] NM_001029870 SOWAHB EXON Missense_K483N exm407862 4 77817640 [A/G] NM_001029870 SOWAHB EXON Missense_P455S exm407870 4 77817874 [T/G] NM_001029870 SOWAHB EXON Missense_P377T exm407872 4 77817933 [A/G] NM_001029870 SOWAHB EXON Missense_S357F exm407878 4 77818132 [G/C] NM_001029870 SOWAHB EXON Missense_P291A exm407891 4 77818548 [T/C] NM_001029870 SOWAHB EXON Missense_D152G exm407917 4 77932956 [A/T] NM_018243 SEPT11 EXON Missense_K136I exm407923 4 77936148 [T/C] NM_018243 SEPT11 EXON Missense_A222V exm407932 4 77941741 [A/C] NM_018243 SEPT11 EXON Missense_T291P exm407953 4 77969505 [T/C] NM_006835 CCNI EXON Missense_Y334C exm407964 4 77976374 [T/C] NM_006835 CCNI EXON Missense_V207I exm407982 4 77979788 [T/G] NM_006835 CCNI EXON Missense_N39H exm407987 4 78079695 [T/G] NM_004354 CCNG2 EXON Missense_L4V exm407990 4 78079721 [A/T] NM_004354 CCNG2 EXON Missense_H12Q exm407994 4 78079768 [A/G] NM_004354 CCNG2 EXON Missense_E28G exm408002 4 78081928 [A/G] NM_004354 CCNG2 EXON Missense_R111G exm408017 4 78082683 [A/G] NM_004354 CCNG2 EXON Missense_N193S exm408028 4 78085427 [A/G] NM_004354 CCNG2 EXON Missense_I236V exm408032 4 78085572 [A/G] NM_004354 CCNG2 EXON Missense_Y284C exm2265723 4 78205171 [A/G] exm2261761 4 78447144 [A/G] NM_006419 CXCL13 Silent exm408040 4 78527042 [T/C] NM_006419 CXCL13 EXON Missense_L8P exm408042 4 78527077 [A/G] NM_006419 CXCL13 EXON Missense_V20I exm408044 4 78528878 [T/C] NM_006419 CXCL13 EXON Missense_T29I exm408045 4 78528881 [A/G] NM_006419 CXCL13 EXON Missense_S30N exm408074 4 78650200 [A/G] NM_144571 CNOT6L EXON Missense_L354F exm408081 4 78669471 [T/G] NM_144571 CNOT6L EXON Synonymous_S186S exm408084 4 78669490 [T/C] NM_144571 CNOT6L EXON Missense_R180Q exm2241315 4 78678104 [A/G] NM_144571 CNOT6L EXON Synonymous_G134G exm2256737 4 78734563 [A/G] NM_144571 CNOT6L Silent exm408100 4 78784013 [G/C] NM_020236 MRPL1 EXON Missense_A4G exm408120 4 78804493 [A/G] NM_020236 MRPL1 EXON Missense_E81K exm408136 4 78815326 [A/G] NM_020236 MRPL1 EXON Missense_V198I exm408142 4 78830434 [G/C] NM_020236 MRPL1 EXON Missense_D229H exm408144 4 78830470 [T/C] NM_020236 MRPL1 EXON Missense_H241Y exm2274025 4 78871021 [C/G] NM_020236 MRPL1 EXON Missense_P283R exm408168 4 79158704 [A/G] NM_001166133,NM_025074 FRAS1,FRAS1 EXON Missense_R50H,Missense_R50H exm408169 4 79158715 [G/C] NM_001166133,NM_025074 FRAS1,FRAS1 EXON Missense_D54H,Missense_D54H exm408175 4 79166397 [T/G] NM_001166133,NM_025074 FRAS1,FRAS1 EXON Missense_L76R,Missense_L76R exm408179 4 79166471 [A/G] NM_001166133,NM_025074 FRAS1,FRAS1 EXON Missense_I101V,Missense_I101V exm408180 4 79166478 [A/T] NM_001166133,NM_025074 FRAS1,FRAS1 EXON Missense_E103V,Missense_E103V exm408182 4 79173573 [T/C] NM_001166133,NM_025074 FRAS1,FRAS1 EXON Missense_C113R,Missense_C113R exm408185 4 79173607 [A/G] NM_001166133,NM_025074 FRAS1,FRAS1 EXON Missense_R124Q,Missense_R124Q exm408186 4 79173616 [G/C] NM_001166133,NM_025074 FRAS1,FRAS1 EXON Missense_P127R,Missense_P127R exm408197 4 79176444 [A/G] NM_001166133,NM_025074 FRAS1,FRAS1 EXON Missense_R173Q,Missense_R173Q exm408199 4 79176453 [A/G] NM_001166133,NM_025074 FRAS1,FRAS1 EXON Missense_R176Q,Missense_R176Q exm408203 4 79186200 [T/C] NM_001166133,NM_025074 FRAS1,FRAS1 EXON Missense_P209S,Missense_P209S exm408204 4 79186216 [T/C] NM_001166133,NM_025074 FRAS1,FRAS1 EXON Missense_P214L,Missense_P214L exm408206 4 79186257 [T/C] NM_001166133,NM_025074 FRAS1,FRAS1 EXON Missense_Y228H,Missense_Y228H exm408207 4 79186260 [A/G] NM_001166133,NM_025074 FRAS1,FRAS1 EXON Missense_E229K,Missense_E229K exm408210 4 79188027 [A/G] NM_001166133,NM_025074 FRAS1,FRAS1 EXON Missense_I243V,Missense_I243V exm408213 4 79188076 [T/G] NM_001166133,NM_025074 FRAS1,FRAS1 EXON Missense_L259R,Missense_L259R exm408216 4 79188411 [A/G] NM_001166133,NM_025074 FRAS1,FRAS1 EXON Missense_R269Q,Missense_R269Q exm408220 4 79188491 [A/G] NM_001166133,NM_025074 FRAS1,FRAS1 EXON Missense_E296K,Missense_E296K exm408221 4 79188507 [T/C] NM_001166133,NM_025074 FRAS1,FRAS1 EXON Missense_S301L,Missense_S301L exm408224 4 79188584 [T/C] NM_001166133,NM_025074 FRAS1,FRAS1 EXON Missense_R327W,Missense_R327W exm408229 4 79202580 [A/G] NM_001166133,NM_025074 FRAS1,FRAS1 EXON Missense_R367H,Missense_R367H exm408235 4 79205589 [A/C] NM_001166133,NM_025074 FRAS1,FRAS1 EXON Missense_S429Y,Missense_S429Y exm408257 4 79236838 [T/C] NM_001166133,NM_025074 FRAS1,FRAS1 EXON Missense_M590T,Missense_M590T exm408258 4 79236852 [A/G] NM_001166133,NM_025074 FRAS1,FRAS1 EXON Missense_G595S,Missense_G595S exm408263 4 79238620 [T/C] NM_001166133,NM_025074 FRAS1,FRAS1 EXON Missense_R640C,Missense_R640C exm408264 4 79238636 [T/C] NM_001166133,NM_025074 FRAS1,FRAS1 EXON Missense_F645S,Missense_F645S exm408266 4 79238662 [A/G] NM_001166133,NM_025074 FRAS1,FRAS1 EXON Missense_A654T,Missense_A654T exm408267 4 79239985 [T/C] NM_001166133,NM_025074 FRAS1,FRAS1 EXON Missense_A661V,Missense_A661V exm408270 4 79240030 [T/C] NM_001166133,NM_025074 FRAS1,FRAS1 EXON Missense_P676L,Missense_P676L exm408273 4 79240063 [A/G] NM_001166133,NM_025074 FRAS1,FRAS1 EXON Missense_D687G,Missense_D687G exm408278 4 79240131 [A/C] NM_001166133,NM_025074 FRAS1,FRAS1 EXON Missense_I710L,Missense_I710L exm408279 4 79240135 [A/G] NM_001166133,NM_025074 FRAS1,FRAS1 EXON Missense_C711Y,Missense_C711Y exm408284 4 79258894 [T/A] NM_001166133,NM_025074 FRAS1,FRAS1 EXON Missense_H782L,Missense_H782L exm-rs1268789 4 79280693 [T/C] NM_001166133,NM_025074 FRAS1,FRAS1 Silent,Silent exm408288 4 79284694 [T/C] NM_001166133,NM_025074 FRAS1,FRAS1 EXON Missense_A817V,Missense_A817V exm408290 4 79284759 [A/G] NM_001166133,NM_025074 FRAS1,FRAS1 EXON Missense_G839R,Missense_G839R exm408296 4 79285146 [C/G] NM_001166133,NM_025074 FRAS1,FRAS1 EXON Missense_T887S,Missense_T887S exm408301 4 79291115 [A/T] NM_001166133,NM_025074 FRAS1,FRAS1 EXON Missense_D949V,Missense_D949V exm408302 4 79291130 [T/C] NM_001166133,NM_025074 FRAS1,FRAS1 EXON Missense_T954M,Missense_T954M exm408305 4 79293925 [A/C] NM_001166133,NM_025074 FRAS1,FRAS1 EXON Missense_Q975K,Missense_Q975K exm408308 4 79293958 [A/G] NM_001166133,NM_025074 FRAS1,FRAS1 EXON Missense_A986T,Missense_A986T exm408315 4 79295312 [T/C] NM_001166133,NM_025074 FRAS1,FRAS1 EXON Missense_R1020C,Missense_R1020C exm408316 4 79295319 [A/C] NM_001166133,NM_025074 FRAS1,FRAS1 EXON Missense_K1022T,Missense_K1022T exm408317 4 79295322 [A/G] NM_001166133,NM_025074 FRAS1,FRAS1 EXON Missense_G1023E,Missense_G1023E exm408320 4 79295403 [T/C] NM_001166133,NM_025074 FRAS1,FRAS1 EXON Missense_T1050I,Missense_T1050I exm408325 4 79300910 [A/G] NM_001166133,NM_025074 FRAS1,FRAS1 EXON Missense_N1108S,Missense_N1108S exm408327 4 79300993 [A/G] NM_001166133,NM_025074 FRAS1,FRAS1 EXON Missense_E1136K,Missense_E1136K exm408328 4 79300996 [A/G] NM_001166133,NM_025074 FRAS1,FRAS1 EXON Missense_D1137N,Missense_D1137N exm408332 4 79301103 [A/T] NM_001166133,NM_025074 FRAS1,FRAS1 EXON Missense_D1172E,Missense_D1172E exm408340 4 79308580 [A/G] NM_001166133,NM_025074 FRAS1,FRAS1 EXON Missense_A1234T,Missense_A1234T exm408361 4 79328846 [T/G] NM_001166133,NM_025074 FRAS1,FRAS1 EXON Missense_A1387S,Missense_A1387S exm408362 4 79328847 [T/C] NM_001166133,NM_025074 FRAS1,FRAS1 EXON Missense_A1387V,Missense_A1387V exm408368 4 79334148 [T/C] NM_001166133,NM_025074 FRAS1,FRAS1 EXON Missense_T1445I,Missense_T1445I exm408370 4 79334160 [T/G] NM_001166133,NM_025074 FRAS1,FRAS1 EXON Missense_S1449I,Missense_S1449I exm408372 4 79334178 [T/C] NM_001166133,NM_025074 FRAS1,FRAS1 EXON Missense_A1455V,Missense_A1455V exm408377 4 79343055 [T/C] NM_001166133,NM_025074 FRAS1,FRAS1 EXON Missense_R1527W,Missense_R1527W exm408378 4 79343101 [A/G] NM_001166133,NM_025074 FRAS1,FRAS1 EXON Missense_R1542H,Missense_R1542H exm408379 4 79343110 [T/C] NM_001166133,NM_025074 FRAS1,FRAS1 EXON Missense_P1545L,Missense_P1545L exm408381 4 79343124 [T/C] NM_001166133,NM_025074 FRAS1,FRAS1 EXON Missense_L1550F,Missense_L1550F exm408393 4 79351479 [T/C] NM_001166133,NM_025074 FRAS1,FRAS1 EXON Missense_A1626V,Missense_A1626V exm408397 4 79351542 [T/C] NM_001166133,NM_025074 FRAS1,FRAS1 EXON Missense_T1647I,Missense_T1647I exm408398 4 79351560 [T/C] NM_001166133,NM_025074 FRAS1,FRAS1 EXON Missense_P1653L,Missense_P1653L exm408408 4 79353587 [C/G] NM_001166133,NM_025074 FRAS1,FRAS1 EXON Missense_D1682E,Missense_D1682E exm408424 4 79360063 [A/G] NM_001166133,NM_025074 FRAS1,FRAS1 EXON Missense_A1792T,Missense_A1792T exm408431 4 79366735 [A/G] NM_001166133,NM_025074 FRAS1,FRAS1 EXON Missense_V1909I,Missense_V1909I exm408441 4 79366891 [A/G] NM_001166133,NM_025074 FRAS1,FRAS1 EXON Missense_V1961I,Silent exm408442 4 79367886 [T/G] NM_025074 FRAS1 EXON Missense_K1954N exm408452 4 79368033 [T/C] NM_025074 FRAS1 EXON Synonymous_H2003H exm408457 4 79369320 [T/C] NM_025074 FRAS1 EXON Missense_P2042S exm2079886 4 79369333 [T/G] NM_025074 FRAS1 EXON Missense_G2046V exm408466 4 79371331 [T/C] NM_025074 FRAS1 EXON Missense_H2101Y exm408473 4 79371464 [A/G] NM_025074 FRAS1 EXON Missense_R2145Q exm408477 4 79372992 [T/C] NM_025074 FRAS1 EXON Missense_V2177A exm408478 4 79373031 [T/C] NM_025074 FRAS1 EXON Missense_S2190F exm408479 4 79373329 [A/G] NM_025074 FRAS1 EXON Missense_E2195G exm408481 4 79373353 [T/C] NM_025074 FRAS1 EXON Missense_T2203I exm408489 4 79373499 [A/G] NM_025074 FRAS1 EXON Missense_A2252T exm408495 4 79385640 [T/C] NM_025074 FRAS1 EXON Missense_S2311L exm408501 4 79387365 [A/G] NM_025074 FRAS1 EXON Missense_E2345K exm408502 4 79387371 [T/G] NM_025074 FRAS1 EXON Missense_V2347F exm408508 4 79387464 [A/G] NM_025074 FRAS1 EXON Missense_K2378E exm408509 4 79387495 [A/G] NM_025074 FRAS1 EXON Missense_S2388N exm408513 4 79387555 [A/G] NM_025074 FRAS1 EXON Missense_N2408S exm408514 4 79387570 [T/C] NM_025074 FRAS1 EXON Missense_I2413T exm408529 4 79393413 [T/C] NM_025074 FRAS1 EXON Missense_T2484M exm408534 4 79394691 [A/G] NM_025074 FRAS1 EXON Missense_N2541S exm408536 4 79394702 [A/G] NM_025074 FRAS1 EXON Missense_D2545N exm408537 4 79394721 [A/G] NM_025074 FRAS1 EXON Missense_Q2551R exm2256738 4 79396667 [T/C] NM_025074 FRAS1 EXON Synonymous_I2586I exm408541 4 79396667 [T/C] NM_025074 FRAS1 EXON Synonymous_I2586I exm408548 4 79399029 [A/G] NM_025074 FRAS1 EXON Missense_V2638M exm408563 4 79400644 [A/G] NM_025074 FRAS1 EXON Missense_A2739T exm408570 4 79400786 [T/C] NM_025074 FRAS1 EXON Missense_A2786V exm408572 4 79400846 [T/C] NM_025074 FRAS1 EXON Missense_T2806M exm408587 4 79403635 [A/G] NM_025074 FRAS1 EXON Missense_E2900K exm2275756 4 79410122 [A/G] NM_025074 FRAS1 EXON Missense_Y2949C exm408620 4 79421055 [A/G] NM_025074 FRAS1 EXON Missense_R3099Q exm2079920 4 79428614 [A/G] NM_025074 FRAS1 EXON Missense_N3119S exm408626 4 79428704 [T/C] NM_025074 FRAS1 EXON Missense_T3149M exm408632 4 79429933 [A/G] NM_025074 FRAS1 EXON Missense_G3185R exm408642 4 79430104 [T/C] NM_025074 FRAS1 EXON Missense_R3242W exm408645 4 79432453 [A/G] NM_025074 FRAS1 EXON Missense_R3269Q exm408650 4 79432474 [T/C] NM_025074 FRAS1 EXON Missense_V3276A exm408651 4 79432500 [T/C] NM_025074 FRAS1 EXON Missense_H3285Y exm408652 4 79432602 [G/C] NM_025074 FRAS1 EXON Missense_Q3319E exm408664 4 79434685 [T/G] NM_025074 FRAS1 EXON Missense_Y3385D exm408665 4 79434692 [T/C] NM_025074 FRAS1 EXON Missense_L3387P exm408667 4 79434703 [T/C] NM_025074 FRAS1 EXON Missense_S3391P exm408669 4 79437009 [A/G] NM_025074 FRAS1 EXON Missense_D3411N exm408673 4 79437039 [T/C] NM_025074 FRAS1 EXON Nonsense_R3421X exm408676 4 79437090 [A/G] NM_025074 FRAS1 EXON Missense_V3438M exm2269780 4 79439935 [T/G] NM_025074 FRAS1 Silent exm408683 4 79440521 [A/G] NM_025074 FRAS1 EXON Missense_V3476M exm408686 4 79440634 [A/G] NM_025074 FRAS1 EXON Synonymous_T3513T exm408689 4 79442730 [A/G] NM_025074 FRAS1 EXON Missense_I3532V exm408690 4 79442734 [A/G] NM_025074 FRAS1 EXON Missense_R3533Q exm408691 4 79443837 [A/T] NM_025074 FRAS1 EXON Missense_E3561D exm408692 4 79443850 [A/G] NM_025074 FRAS1 EXON Missense_V3566I exm408693 4 79443878 [T/C] NM_025074 FRAS1 EXON Missense_I3575T exm408697 4 79447763 [T/C] NM_025074 FRAS1 EXON Missense_V3626A exm408710 4 79458283 [A/G] NM_025074 FRAS1 EXON Missense_I3743V exm408712 4 79458320 [T/C] NM_025074 FRAS1 EXON Missense_P3755L exm408713 4 79458330 [A/C] NM_025074 FRAS1 EXON Missense_H3758Q exm408715 4 79460455 [A/G] NM_025074 FRAS1 EXON Missense_N3769S exm408720 4 79461844 [A/G] NM_025074 FRAS1 EXON Missense_I3869V exm408728 4 79461956 [T/C] NM_025074 FRAS1 EXON Missense_I3906T exm408730 4 79461959 [T/G] NM_025074 FRAS1 EXON Missense_G3907V exm408733 4 79461979 [T/A] NM_025074 FRAS1 EXON Missense_M3914L exm408741 4 79462094 [T/C] NM_025074 FRAS1 EXON Missense_V3952A exm408743 4 79462120 [T/C] NM_025074 FRAS1 EXON Missense_R3961W exm408747 4 79462135 [A/G] NM_025074 FRAS1 EXON Missense_V3966M exm408748 4 79462146 [G/C] NM_025074 FRAS1 EXON Missense_H3969Q exm408750 4 79462184 [T/C] NM_025074 FRAS1 EXON Missense_P3982L exm408756 4 79494343 [T/C] NM_005139 ANXA3 EXON Nonsense_R9X exm408758 4 79494374 [A/G] NM_005139 ANXA3 EXON Missense_S19N exm408759 4 79494382 [A/G] NM_005139 ANXA3 EXON Missense_V22M exm408765 4 79500235 [A/G] NM_005139 ANXA3 EXON Missense_R53Q exm408768 4 79503349 [A/G] NM_005139 ANXA3 EXON Missense_K73E exm408773 4 79507418 [T/C] NM_005139 ANXA3 EXON Missense_A106V exm408776 4 79507429 [A/G] NM_005139 ANXA3 EXON Missense_E110K exm408784 4 79512733 [A/G] NM_005139 ANXA3 EXON Missense_E147K exm408789 4 79516954 [T/C] NM_005139 ANXA3 EXON Missense_Y183H exm408790 4 79516969 [A/G] NM_005139 ANXA3 EXON Missense_N188D exm408792 4 79518474 [A/G] NM_005139 ANXA3 EXON Synonymous_T212T exm408793 4 79518494 [A/T] NM_005139 ANXA3 EXON Missense_I219N exm2241321 4 79522682 [T/C] NM_005139 ANXA3 EXON Missense_T250M exm408796 4 79522685 [T/C] NM_005139 ANXA3 EXON Missense_P251L exm408803 4 79525504 [A/G] NM_005139 ANXA3 EXON Missense_R288Q exm408808 4 79531211 [T/C] NM_005139 ANXA3 EXON Missense_S305L exm408810 4 79531235 [T/C] NM_005139 ANXA3 EXON Missense_I313T exm2269935 4 79625240 [T/C] exm408819 4 79747281 [A/G] NM_017593,NM_198892 BMP2K,BMP2K EXON Missense_N90S,Missense_N90S exm408827 4 79763578 [T/C] NM_017593,NM_198892 BMP2K,BMP2K EXON Missense_T148M,Missense_T148M exm408833 4 79766170 [T/A] NM_017593,NM_198892 BMP2K,BMP2K EXON Missense_D212V,Missense_D212V exm408844 4 79772189 [T/C] NM_017593,NM_198892 BMP2K,BMP2K EXON Missense_R288C,Missense_R288C exm408845 4 79772190 [A/G] NM_017593,NM_198892 BMP2K,BMP2K EXON Missense_R288H,Missense_R288H exm408856 4 79786805 [A/C] NM_017593,NM_198892 BMP2K,BMP2K EXON Missense_T388P,Missense_T388P exm408859 4 79786856 [A/G] NM_017593,NM_198892 BMP2K,BMP2K EXON Missense_G405S,Missense_G405S exm2274026 4 79786864 [T/A] NM_017593,NM_198892 BMP2K,BMP2K EXON Missense_H407Q,Missense_H407Q exm2274027 4 79791939 [A/G] NM_017593,NM_198892 BMP2K,BMP2K EXON Missense_A412T,Missense_A412T exm2256741 4 79793788 [T/C] NM_017593,NM_198892 BMP2K,BMP2K EXON Synonymous_A543A,Synonymous_A543A exm408896 4 79793916 [T/C] NM_017593,NM_198892 BMP2K,BMP2K EXON Missense_V586A,Missense_V586A exm408898 4 79793944 [T/G] NM_017593,NM_198892 BMP2K,BMP2K EXON Missense_S595R,Missense_S595R exm408899 4 79793949 [A/G] NM_017593,NM_198892 BMP2K,BMP2K EXON Missense_N597S,Missense_N597S exm408912 4 79808400 [A/G] NM_198892 BMP2K EXON Missense_E675G exm408913 4 79808433 [A/G] NM_198892 BMP2K EXON Missense_H686R exm408915 4 79831772 [A/G] NM_198892 BMP2K EXON Missense_E691K exm408919 4 79831847 [T/C] NM_198892 BMP2K EXON Missense_P716S exm408921 4 79831866 [A/G] NM_198892 BMP2K EXON Missense_R722Q exm408931 4 79832163 [A/G] NM_198892 BMP2K EXON Missense_R821K exm408933 4 79832195 [G/C] NM_198892 BMP2K EXON Missense_L832V exm408934 4 79832279 [A/G] NM_198892 BMP2K EXON Missense_A860T exm2080018 4 79832486 [A/G] NM_198892 BMP2K EXON Missense_V929I exm408953 4 79832960 [A/G] NM_198892 BMP2K EXON Missense_G1087S exm2276862 4 79833182 [C/G] NM_198892 BMP2K EXON Missense_Q1161E exm2273393 4 79841657 [T/C] NM_001040202 PAQR3 EXON Silent exm408971 4 79847703 [T/C] NM_001040202 PAQR3 EXON Missense_N225S exm408980 4 79851379 [A/G] NM_001040202 PAQR3 EXON Missense_I150T exm2264096 4 79884416 [A/C] exm-rs1455311 4 79964587 [A/G] NR_038342 LOC100505875 Silent exm2269782 4 80217741 [T/C] NR_038342 LOC100505875 Silent exm2274028 4 80246805 [A/G] NM_032693 NAA11 EXON Missense_A76V exm409021 4 80246977 [A/G] NM_032693 NAA11 EXON Missense_L19F exm409023 4 80247016 [T/C] NM_032693 NAA11 EXON Missense_A6T exm409034 4 80327886 [T/C] NM_033214 GK2 EXON Missense_Q490R exm409035 4 80327899 [A/G] NM_033214 GK2 EXON Nonsense_R486X exm409036 4 80327944 [T/C] NM_033214 GK2 EXON Missense_V471I exm409038 4 80327962 [A/C] NM_033214 GK2 EXON Missense_A465S exm409041 4 80327982 [T/C] NM_033214 GK2 EXON Missense_G458E exm409047 4 80328037 [C/G] NM_033214 GK2 EXON Missense_D440H exm409048 4 80328063 [T/C] NM_033214 GK2 EXON Missense_N431S exm409053 4 80328141 [T/C] NM_033214 GK2 EXON Missense_R405Q exm2241327 4 80328142 [A/G] NM_033214 GK2 EXON Nonsense_R405X exm409054 4 80328188 [T/A] NM_033214 GK2 EXON Missense_K389N exm409060 4 80328366 [T/C] NM_033214 GK2 EXON Missense_R330H exm409064 4 80328483 [T/C] NM_033214 GK2 EXON Missense_R291H exm409065 4 80328519 [T/C] NM_033214 GK2 EXON Missense_Y279C exm409068 4 80328600 [A/G] NM_033214 GK2 EXON Missense_P252L exm409072 4 80328748 [T/C] NM_033214 GK2 EXON Missense_S203G exm409074 4 80328793 [G/C] NM_033214 GK2 EXON Missense_G188R exm409079 4 80328891 [T/C] NM_033214 GK2 EXON Missense_R155H exm409090 4 80329168 [T/A] NM_033214 GK2 EXON Missense_S63T exm409094 4 80329257 [A/G] NM_033214 GK2 EXON Missense_A33V exm2269783 4 80571936 [T/C] exm409107 4 80898843 [T/C] NM_058172,NM_001145794 ANTXR2,ANTXR2 EXON Missense_A454T,Missense_A454T exm409110 4 80899172 [T/A] NM_058172,NM_001145794 ANTXR2,ANTXR2 EXON Missense_T446S,Missense_T446S exm409118 4 80905112 [T/G] NM_058172,NM_001145794 ANTXR2,ANTXR2 EXON Missense_P367T,Missense_P367T exm409127 4 80940081 [G/C] NM_058172,NM_001145794 ANTXR2,ANTXR2 EXON Missense_G306R,Missense_G306R exm-rs4333130 4 80949829 [T/C] NM_058172,NM_001145794 ANTXR2,ANTXR2 Silent,Silent exm409130 4 80952835 [T/C] NM_058172,NM_001145794 ANTXR2,ANTXR2 EXON Missense_V270I,Missense_V270I exm409131 4 80952845 [A/G] NM_058172,NM_001145794 ANTXR2,ANTXR2 EXON Synonymous_S266S,Synonymous_S266S exm409135 4 80957180 [T/C] NM_058172,NM_001145794 ANTXR2,ANTXR2 EXON Missense_A215T,Missense_A215T exm409147 4 80977133 [A/G] NM_058172,NM_001145794 ANTXR2,ANTXR2 EXON Missense_R111C,Missense_R111C exm409148 4 80977135 [T/C] NM_058172,NM_001145794 ANTXR2,ANTXR2 EXON Missense_K110R,Missense_K110R exm-rs6839672 4 80993133 [A/G] NM_058172,NM_001145794 ANTXR2,ANTXR2 Silent,Silent exm409156 4 80993618 [A/C] NM_058172,NM_001145794 ANTXR2,ANTXR2 EXON Missense_A33S,Missense_A33S exm2261764 4 81058566 [T/G] exm409172 4 81122552 [C/G] NM_020226,NM_001099403 PRDM8,PRDM8 EXON Missense_G110R,Missense_G110R exm409173 4 81122553 [G/C] NM_020226,NM_001099403 PRDM8,PRDM8 EXON Missense_G110A,Missense_G110A exm409233 4 81124319 [G/C] NM_020226,NM_001099403 PRDM8,PRDM8 EXON Missense_G568A,Missense_G568A exm2269784 4 81126083 [T/C] exm-rs16998073 4 81184341 [T/A] exm409252 4 81188123 [A/G] NM_004464,NM_033143 FGF5,FGF5 EXON Missense_S49G,Missense_S49G exm409256 4 81188138 [A/G] NM_004464,NM_033143 FGF5,FGF5 EXON Missense_M54V,Missense_M54V exm409265 4 81188221 [T/G] NM_004464,NM_033143 FGF5,FGF5 EXON Missense_W81C,Missense_W81C exm409271 4 81188288 [T/C] NM_004464,NM_033143 FGF5,FGF5 EXON Missense_Y104H,Missense_Y104H exm409273 4 81196107 [T/C] NM_004464,NM_033143 FGF5,FGF5 EXON Nonsense_R134X,Silent exm409274 4 81196108 [A/G] NM_004464,NM_033143 FGF5,FGF5 EXON Missense_R134Q,Silent exm409278 4 81196155 [T/C] NM_004464,NM_033143 FGF5,FGF5 EXON Missense_L150F,Silent exm409280 4 81196158 [T/C] NM_004464,NM_033143 FGF5,FGF5 EXON Missense_H151Y,Silent exm409287 4 81207617 [T/C] NM_004464,NM_033143 FGF5,FGF5 EXON Nonsense_R200X,Silent exm409290 4 81207645 [A/G] NM_004464,NM_033143 FGF5,FGF5 EXON Missense_Q209R,Silent exm409293 4 81207708 [T/C] NM_004464,NM_033143 FGF5,FGF5 EXON Missense_T230M,Silent exm409296 4 81207749 [A/G] NM_004464,NM_033143 FGF5,FGF5 EXON Missense_K244E,Silent exm409304 4 81283906 [A/G] NM_152770,NM_001206997 C4orf22,C4orf22 Silent,Silent exm2241332 4 81283914 [A/G] NM_152770,NM_001206997 C4orf22,C4orf22 EXON Missense_T40A,Missense_T40A exm409307 4 81283923 [T/C] NM_152770,NM_001206997 C4orf22,C4orf22 EXON Missense_R43C,Missense_R43C exm2265725 4 81433856 [A/G] NM_152770,NM_001206997 C4orf22,C4orf22 Silent,Silent exm409315 4 81504291 [T/C] NM_152770,NM_001206997 C4orf22,C4orf22 EXON Missense_T96M,Missense_T96M exm2080195 4 81504321 [A/G] NM_152770,NM_001206997 C4orf22,C4orf22 EXON Missense_R106H,Missense_R106H exm409319 4 81504336 [A/G] NM_152770,NM_001206997 C4orf22,C4orf22 EXON Missense_S111N,Missense_S111N exm2080198 4 81529518 [T/C] NM_152770,NM_001206997 C4orf22,C4orf22 EXON Silent,Missense_I122T exm409323 4 81791226 [T/C] NM_152770,NM_001206997 C4orf22,C4orf22 EXON Missense_T138M,Missense_T155M exm409330 4 81866010 [A/C] NM_152770,NM_001206997 C4orf22,C4orf22 EXON Missense_N175H,Missense_N192H exm409332 4 81884672 [T/C] NM_152770,NM_001206997 C4orf22,C4orf22 EXON Missense_A203V,Missense_A220V exm409333 4 81884722 [A/G] NM_152770,NM_001206997 C4orf22,C4orf22 EXON Missense_V220I,Missense_V237I exm2080210 4 81884740 [T/G] NM_152770,NM_001206997 C4orf22,C4orf22 EXON Missense_D226Y,Missense_D243Y exm409338 4 81952496 [A/G] NM_001201 BMP3 EXON Missense_A20T exm409347 4 81952592 [T/C] NM_001201 BMP3 EXON Missense_P52S exm409349 4 81952637 [T/A] NM_001201 BMP3 EXON Missense_Y67N exm409350 4 81952658 [T/C] NM_001201 BMP3 EXON Missense_R74W exm409364 4 81967101 [A/C] NM_001201 BMP3 EXON Missense_Q176K exm409365 4 81967102 [T/A] NM_001201 BMP3 EXON Missense_Q176L exm409372 4 81967188 [T/C] NM_001201 BMP3 EXON Missense_L205F exm409374 4 81967239 [A/G] NM_001201 BMP3 EXON Missense_T222A exm409375 4 81967240 [T/C] NM_001201 BMP3 EXON Missense_T222M exm409382 4 81967384 [T/C] NM_001201 BMP3 EXON Missense_V270A exm409390 4 81967542 [A/C] NM_001201 BMP3 EXON Missense_T323P exm409392 4 81967606 [A/G] NM_001201 BMP3 EXON Missense_R344Q exm409395 4 81967618 [T/C] NM_001201 BMP3 EXON Missense_T348M exm409402 4 81967779 [C/G] NM_001201 BMP3 EXON Missense_A402P exm409409 4 81974620 [A/T] NM_001201 BMP3 EXON Missense_F450Y exm2265726 4 81981592 [A/G] exm409415 4 82013569 [G/C] NM_006259 PRKG2 EXON Missense_R722G exm2261765 4 82046984 [A/C] NM_006259 PRKG2 Silent exm409437 4 82058629 [A/G] NM_006259 PRKG2 EXON Missense_R518C exm409462 4 82073180 [T/C] NM_006259 PRKG2 EXON Missense_H340R exm409477 4 82095964 [T/C] NM_006259 PRKG2 EXON Missense_H204R exm409479 4 82096035 [T/C] NM_006259 PRKG2 EXON Missense_M180I exm409483 4 82125924 [A/G] NM_006259 PRKG2 EXON Missense_P93L exm409489 4 82126062 [T/C] NM_006259 PRKG2 EXON Missense_R47Q exm409493 4 82126123 [A/G] NM_006259 PRKG2 EXON Missense_R27W exm409494 4 82126134 [C/G] NM_006259 PRKG2 EXON Missense_T23S exm409496 4 82126147 [T/C] NM_006259 PRKG2 EXON Missense_G19R exm409499 4 82126173 [T/C] NM_006259 PRKG2 EXON Missense_H10R exm-rs710841 4 82149831 [T/C] exm2265850 4 82318524 [A/G] exm409505 4 82355804 [T/C] NM_152545 RASGEF1B EXON Missense_V397I exm409510 4 82362055 [T/C] NM_152545 RASGEF1B EXON Missense_Y346C exm409511 4 82362065 [T/C] NM_152545 RASGEF1B EXON Missense_S343G exm409524 4 82368723 [T/C] NM_152545 RASGEF1B EXON Missense_N222D exm409532 4 82369230 [A/G] NM_152545 RASGEF1B EXON Missense_I216T exm409561 4 82380597 [A/C] NM_152545 RASGEF1B EXON Missense_Q22H exm409565 4 82380669 [T/C] NM_152545 RASGEF1B Silent exm2264058 4 82620131 [A/C] exm2265727 4 82862484 [A/G] exm409597 4 83347225 [T/G] NR_003249,NM_001207000,NM_031372 HNRPDL,HNRPDL,HNRPDL EXON Silent,Missense_Y360S,Missense_Y417S exm2274029 4 83347711 [C/G] NR_003249,NM_001207000,NM_031372 HNRPDL,HNRPDL,HNRPDL EXON Silent,Silent,Missense_G366A exm409621 4 83350488 [A/G] NR_003249,NM_001207000,NM_031372 HNRPDL,HNRPDL,HNRPDL EXON Silent,Missense_T119I,Missense_T119I exm409638 4 83350596 [A/G] NR_003249,NM_001207000,NM_031372 HNRPDL,HNRPDL,HNRPDL EXON Silent,Missense_P83L,Missense_P83L exm409652 4 83372208 [A/G] NM_021204 ENOPH1 EXON Missense_A67T exm409659 4 83375978 [A/G] NM_021204 ENOPH1 EXON Missense_G165R exm409662 4 83378168 [A/T] NM_021204 ENOPH1 EXON Nonsense_L208X exm2269785 4 83403563 [T/G] exm409673 4 83406740 [A/G] NM_001080506 TMEM150C EXON Missense_S225F exm409674 4 83411215 [A/G] NM_001080506 TMEM150C EXON Synonymous_L180L exm409677 4 83411309 [A/G] NM_001080506 TMEM150C EXON Missense_A149V exm409678 4 83411339 [A/G] NM_001080506 TMEM150C EXON Missense_F139S exm409679 4 83411364 [T/C] NM_001080506 TMEM150C EXON Missense_V131I exm409680 4 83417321 [A/G] NM_001080506 TMEM150C EXON Missense_I88T exm409683 4 83417333 [A/G] NM_001080506 TMEM150C EXON Missense_V84A exm409685 4 83417347 [A/G] NM_001080506 TMEM150C EXON Synonymous_A79A exm409697 4 83425789 [T/C] NM_001080506 TMEM150C EXON Missense_V8I exm2265851 4 83462759 [A/G] NM_001080506 TMEM150C Silent exm-rs7658637 4 83499313 [T/C] exm409705 4 83552538 [T/C] NM_001037582 SCD5 EXON Missense_R312Q exm409708 4 83552545 [A/G] NM_001037582 SCD5 EXON Missense_R310C exm409725 4 83582064 [T/G] NM_001037582,NM_024906 SCD5,SCD5 EXON Silent,Missense_L246M exm409727 4 83582077 [G/C] NM_001037582,NM_024906 SCD5,SCD5 EXON Silent,Missense_K241N exm409734 4 83582211 [G/C] NM_001037582,NM_024906 SCD5,SCD5 EXON Silent,Missense_E197Q exm409735 4 83582228 [A/G] NM_001037582,NM_024906 SCD5,SCD5 EXON Silent,Missense_T191I exm409736 4 83601861 [T/C] NM_001037582,NM_024906 SCD5,SCD5 EXON Missense_K190E,Missense_N190D exm409740 4 83601977 [A/C] NM_001037582,NM_024906 SCD5,SCD5 EXON Missense_F151C,Missense_F151C exm409741 4 83602010 [A/G] NM_001037582,NM_024906 SCD5,SCD5 EXON Missense_T140M,Missense_T140M exm2269786 4 83643150 [T/G] NM_001037582,NM_024906 SCD5,SCD5 Silent,Silent exm409766 4 83719593 [A/G] NM_001037582,NM_024906 SCD5,SCD5 EXON Missense_P33L,Missense_P33L exm409768 4 83719605 [T/C] NM_001037582,NM_024906 SCD5,SCD5 EXON Missense_G29D,Missense_G29D exm409773 4 83740367 [T/C] NM_001077208,NM_014933,NM_001077206,NM_016211,NM_001077207,NM_001191049 SEC31A,SEC31A,SEC31A,SEC31A,SEC31A,SEC31A EXON Missense_R1160G,Missense_R1175G,Missense_R1061G,Missense_R1136G,Missense_R1175G,Missense_R1155G exm409784 4 83748617 [T/C] NM_001077208,NM_014933,NM_001077206,NM_016211,NM_001077207,NM_001191049 SEC31A,SEC31A,SEC31A,SEC31A,SEC31A,SEC31A EXON Missense_V1051I,Missense_V1066I,Missense_V952I,Missense_V1027I,Missense_V1066I,Missense_V1046I exm409786 4 83748647 [A/G] NM_001077208,NM_014933,NM_001077206,NM_016211,NM_001077207,NM_001191049 SEC31A,SEC31A,SEC31A,SEC31A,SEC31A,SEC31A EXON Missense_H1041Y,Missense_H1056Y,Missense_H942Y,Missense_H1017Y,Missense_H1056Y,Missense_H1036Y exm409787 4 83748650 [T/G] NM_001077208,NM_014933,NM_001077206,NM_016211,NM_001077207,NM_001191049 SEC31A,SEC31A,SEC31A,SEC31A,SEC31A,SEC31A EXON Missense_P1040T,Missense_P1055T,Missense_P941T,Missense_P1016T,Missense_P1055T,Missense_P1035T exm409789 4 83748721 [A/G] NM_001077208,NM_014933,NM_001077206,NM_016211,NM_001077207,NM_001191049 SEC31A,SEC31A,SEC31A,SEC31A,SEC31A,SEC31A EXON Missense_P1016L,Missense_P1031L,Missense_P917L,Missense_P992L,Missense_P1031L,Missense_P1011L exm409800 4 83763292 [A/C] NM_001077208,NM_014933,NM_001077206,NM_016211,NM_001077207,NM_001191049 SEC31A,SEC31A,SEC31A,SEC31A,SEC31A,SEC31A Silent,Silent,Silent,Silent,Silent,Silent exm409811 4 83763428 [A/G] NM_001077208,NM_014933,NM_001077206,NM_016211,NM_001077207,NM_001191049 SEC31A,SEC31A,SEC31A,SEC31A,SEC31A,SEC31A EXON Missense_P945S,Missense_P945S,Silent,Missense_P906S,Missense_P945S,Missense_P940S exm409825 4 83765598 [T/G] NM_001077208,NM_014933,NM_001077206,NM_016211,NM_001077207,NM_001191049 SEC31A,SEC31A,SEC31A,SEC31A,SEC31A,SEC31A EXON Missense_Q856P,Missense_Q856P,Missense_Q856P,Missense_Q817P,Missense_Q856P,Missense_Q851P exm409826 4 83765605 [A/C] NM_001077208,NM_014933,NM_001077206,NM_016211,NM_001077207,NM_001191049 SEC31A,SEC31A,SEC31A,SEC31A,SEC31A,SEC31A EXON Missense_A854S,Missense_A854S,Missense_A854S,Missense_A815S,Missense_A854S,Missense_A849S exm409827 4 83765632 [T/C] NM_001077208,NM_014933,NM_001077206,NM_016211,NM_001077207,NM_001191049 SEC31A,SEC31A,SEC31A,SEC31A,SEC31A,SEC31A EXON Missense_M845V,Missense_M845V,Missense_M845V,Missense_M806V,Missense_M845V,Missense_M840V exm409829 4 83765643 [A/G] NM_001077208,NM_014933,NM_001077206,NM_016211,NM_001077207,NM_001191049 SEC31A,SEC31A,SEC31A,SEC31A,SEC31A,SEC31A EXON Missense_P841L,Missense_P841L,Missense_P841L,Missense_P802L,Missense_P841L,Missense_P836L exm409833 4 83770027 [T/C] NM_001077208,NM_014933,NM_001077206,NM_016211,NM_001077207,NM_001191049 SEC31A,SEC31A,SEC31A,SEC31A,SEC31A,SEC31A EXON Missense_K811R,Missense_K811R,Missense_K811R,Missense_K772R,Missense_K811R,Missense_K806R exm409871 4 83782827 [A/T] NM_001077208,NM_014933,NM_001077206,NM_016211,NM_001077207,NM_001191049 SEC31A,SEC31A,SEC31A,SEC31A,SEC31A,SEC31A EXON Missense_D528V,Missense_D528V,Missense_D528V,Silent,Missense_D528V,Missense_D523V exm409880 4 83784496 [T/A] NM_001077208,NM_014933,NM_001077206,NM_016211,NM_001077207,NM_001191049 SEC31A,SEC31A,SEC31A,SEC31A,SEC31A,SEC31A EXON Missense_Y495F,Missense_Y495F,Missense_Y495F,Missense_Y495F,Missense_Y495F,Missense_Y490F exm409883 4 83784534 [A/C] NM_001077208,NM_014933,NM_001077206,NM_016211,NM_001077207,NM_001191049 SEC31A,SEC31A,SEC31A,SEC31A,SEC31A,SEC31A EXON Missense_E482D,Missense_E482D,Missense_E482D,Missense_E482D,Missense_E482D,Missense_E477D exm409889 4 83785581 [A/C] NM_001077208,NM_014933,NM_001077206,NM_016211,NM_001077207,NM_001191049 SEC31A,SEC31A,SEC31A,SEC31A,SEC31A,SEC31A EXON Missense_N456K,Missense_N456K,Missense_N456K,Missense_N456K,Missense_N456K,Missense_N451K exm409890 4 83785627 [T/C] NM_001077208,NM_014933,NM_001077206,NM_016211,NM_001077207,NM_001191049 SEC31A,SEC31A,SEC31A,SEC31A,SEC31A,SEC31A EXON Missense_R441Q,Missense_R441Q,Missense_R441Q,Missense_R441Q,Missense_R441Q,Missense_R436Q exm409897 4 83788022 [A/G] NM_001077208,NM_014933,NM_001077206,NM_016211,NM_001077207,NM_001191049 SEC31A,SEC31A,SEC31A,SEC31A,SEC31A,SEC31A EXON Missense_I379T,Missense_I379T,Missense_I379T,Missense_I379T,Missense_I379T,Missense_I374T exm409904 4 83788444 [T/G] NM_001077208,NM_014933,NM_001077206,NM_016211,NM_001077207,NM_001191049 SEC31A,SEC31A,SEC31A,SEC31A,SEC31A,SEC31A EXON Missense_T303K,Missense_T303K,Missense_T303K,Missense_T303K,Missense_T303K,Missense_T298K exm409906 4 83791494 [T/C] NM_001077208,NM_014933,NM_001077206,NM_016211,NM_001077207,NM_001191049 SEC31A,SEC31A,SEC31A,SEC31A,SEC31A,SEC31A EXON Missense_N289S,Missense_N289S,Missense_N289S,Missense_N289S,Missense_N289S,Missense_N284S exm409940 4 83803070 [T/C] NM_001077208,NM_014933,NM_001077206,NM_016211,NM_001077207,NM_001191049 SEC31A,SEC31A,SEC31A,SEC31A,SEC31A,SEC31A EXON Missense_D7G,Missense_D7G,Missense_D7G,Missense_D7G,Missense_D7G,Silent exm409958 4 83827601 [T/C] NM_024672 THAP9 EXON Missense_I134T exm2080580 4 83838159 [A/G] NM_024672 THAP9 EXON Missense_R265Q exm409975 4 83838217 [A/G] NM_024672 THAP9 EXON Missense_M284I exm409976 4 83838262 [T/G] NM_024672 THAP9 EXON Missense_L299F exm409978 4 83838339 [T/C] NM_024672 THAP9 EXON Missense_M325T exm2080584 4 83838420 [A/C] NM_024672 THAP9 EXON Missense_Q352P exm409995 4 83838646 [G/C] NM_024672 THAP9 EXON Missense_Q427H exm409999 4 83838777 [A/C] NM_024672 THAP9 EXON Missense_H471P exm410017 4 83839352 [A/G] NM_024672 THAP9 EXON Missense_I663V exm410019 4 83839374 [A/C] NM_024672 THAP9 EXON Missense_A670E exm2275333 4 83839433 [T/G] NM_024672 THAP9 EXON Nonsense_E690X exm410024 4 83839448 [A/G] NM_024672 THAP9 EXON Missense_D695N exm410030 4 83839631 [A/G] NM_024672 THAP9 EXON Missense_K756E exm410032 4 83839662 [A/G] NM_024672 THAP9 EXON Missense_E766G exm410036 4 83839799 [A/G] NM_024672 THAP9 EXON Missense_N812D exm2080592 4 83839842 [T/G] NM_024672 THAP9 EXON Missense_V826G exm410038 4 83839862 [A/G] NM_024672 THAP9 EXON Missense_V833I exm410072 4 83861082 [T/C] NM_194282,NM_001115007,NM_001115008 LIN54,LIN54,LIN54 EXON Missense_R401Q,Missense_R180Q,Missense_R180Q exm410074 4 83861100 [A/G] NM_194282,NM_001115007,NM_001115008 LIN54,LIN54,LIN54 EXON Missense_V395A,Missense_V174A,Missense_V174A exm410079 4 83867599 [G/C] NM_194282,NM_001115007,NM_001115008 LIN54,LIN54,LIN54 EXON Missense_T327S,Missense_T106S,Missense_T106S exm410085 4 83891596 [T/C] NM_194282,NM_001115007,NM_001115008 LIN54,LIN54,LIN54 EXON Missense_G279R,Missense_G58R,Missense_G58R exm410091 4 83905412 [T/G] NM_194282,NM_001115007,NM_001115008 LIN54,LIN54,LIN54 EXON Missense_P196T,Silent,Silent exm2080618 4 83905517 [T/G] NM_194282,NM_001115007,NM_001115008 LIN54,LIN54,LIN54 EXON Missense_L161I,Silent,Silent exm410107 4 83956388 [T/C] NM_001258006,NM_016129 COPS4,COPS4 EXON Missense_A4V,Missense_A4V exm410135 4 83987668 [G/C] NM_001258006,NM_016129 COPS4,COPS4 EXON Missense_E322Q,Missense_E322Q exm2261768 4 83991529 [A/C] NM_001258006,NM_016129 COPS4,COPS4 Silent,Silent exm410145 4 84015850 [T/C] NM_001130716,NM_016619,NM_001130715 PLAC8,PLAC8,PLAC8 EXON Missense_R113H,Missense_R113H,Missense_R113H exm2080670 4 84029102 [A/G] NM_001130716,NM_016619,NM_001130715 PLAC8,PLAC8,PLAC8 EXON Silent,Silent,Silent exm410159 4 84185440 [A/G] NM_015697 COQ2 EXON Missense_V393A exm410168 4 84188881 [T/C] NM_015697 COQ2 EXON Missense_R320Q exm410180 4 84194697 [T/C] NM_015697 COQ2 EXON Missense_G215E exm410183 4 84194754 [T/C] NM_015697 COQ2 EXON Missense_N196S exm410184 4 84194767 [T/C] NM_015697 COQ2 EXON Missense_T192A exm410201 4 84206004 [A/T] NM_015697 COQ2 EXON Nonsense_R22X exm410208 4 84216580 [A/G] NM_001199830,NM_006665,NM_001098540,NM_001166498 HPSE,HPSE,HPSE,HPSE EXON Missense_R459W,Missense_R517W,Missense_R517W,Missense_R443W exm410210 4 84216649 [A/G] NM_001199830,NM_006665,NM_001098540,NM_001166498 HPSE,HPSE,HPSE,HPSE EXON Nonsense_Q436X,Nonsense_Q494X,Nonsense_Q494X,Nonsense_Q420X exm410214 4 84222157 [A/C] NM_001199830,NM_006665,NM_001098540,NM_001166498 HPSE,HPSE,HPSE,HPSE EXON Missense_D418E,Missense_D476E,Missense_D476E,Missense_D402E exm410220 4 84223321 [T/G] NM_001199830,NM_006665,NM_001098540,NM_001166498 HPSE,HPSE,HPSE,HPSE EXON Missense_H378P,Missense_H436P,Missense_H436P,Missense_H362P exm410221 4 84223334 [A/G] NM_001199830,NM_006665,NM_001098540,NM_001166498 HPSE,HPSE,HPSE,HPSE EXON Nonsense_R374X,Nonsense_R432X,Nonsense_R432X,Nonsense_R358X exm410229 4 84227441 [T/C] NM_001199830,NM_006665,NM_001098540,NM_001166498 HPSE,HPSE,HPSE,HPSE EXON Missense_R316Q,Missense_R374Q,Missense_R374Q,Silent exm410230 4 84227453 [T/C] NM_001199830,NM_006665,NM_001098540,NM_001166498 HPSE,HPSE,HPSE,HPSE EXON Missense_G312D,Missense_G370D,Missense_G370D,Silent exm410239 4 84230619 [T/C] NM_001199830,NM_006665,NM_001098540,NM_001166498 HPSE,HPSE,HPSE,HPSE EXON Missense_K249R,Missense_K307R,Missense_K307R,Missense_K307R exm410252 4 84232010 [A/C] NM_001199830,NM_006665,NM_001098540,NM_001166498 HPSE,HPSE,HPSE,HPSE EXON Missense_F178C,Missense_F236C,Missense_F236C,Missense_F236C exm410253 4 84232019 [C/G] NM_001199830,NM_006665,NM_001098540,NM_001166498 HPSE,HPSE,HPSE,HPSE EXON Missense_A175G,Missense_A233G,Missense_A233G,Missense_A233G exm410254 4 84232029 [C/G] NM_001199830,NM_006665,NM_001098540,NM_001166498 HPSE,HPSE,HPSE,HPSE EXON Missense_L172V,Missense_L230V,Missense_L230V,Missense_L230V exm410263 4 84234410 [C/G] NM_001199830,NM_006665,NM_001098540,NM_001166498 HPSE,HPSE,HPSE,HPSE EXON Silent,Missense_A177G,Missense_A177G,Missense_A177G exm2080732 4 84240515 [T/G] NM_001199830,NM_006665,NM_001098540,NM_001166498 HPSE,HPSE,HPSE,HPSE EXON Missense_K161Q,Missense_K161Q,Missense_K161Q,Missense_K161Q exm410296 4 84328632 [T/C] NM_133636 HELQ EXON Missense_V1094M exm410297 4 84328635 [T/C] NM_133636 HELQ EXON Missense_A1093T exm410302 4 84337916 [A/G] NM_133636 HELQ EXON Missense_R1056C exm410312 4 84347155 [T/C] NM_133636 HELQ EXON Missense_I923V exm2256755 4 84347243 [A/G] NM_133636 HELQ EXON Synonymous_F893F exm410316 4 84347246 [T/C] NM_133636 HELQ Silent exm2269787 4 84347423 [T/C] NM_133636 HELQ Silent exm410317 4 84348745 [T/C] NM_133636 HELQ EXON Missense_N883D exm410319 4 84348765 [A/T] NM_133636 HELQ EXON Missense_Y876F exm410323 4 84350739 [T/C] NM_133636 HELQ EXON Missense_K819R exm410335 4 84353340 [T/C] NM_133636 HELQ EXON Missense_R710H exm410336 4 84353354 [A/C] NM_133636 HELQ EXON Missense_I705M exm410347 4 84358158 [T/C] NM_133636 HELQ EXON Missense_R634H exm410349 4 84358227 [T/C] NM_133636 HELQ EXON Missense_K611R exm410351 4 84361071 [A/G] NM_133636 HELQ EXON Missense_P585S exm410355 4 84362466 [T/G] NM_133636 HELQ EXON Missense_N552H exm410356 4 84362474 [T/C] NM_133636 HELQ EXON Missense_R549H exm2080772 4 84362553 [T/C] NM_133636 HELQ EXON Missense_E523K exm2241359 4 84368037 [A/C] NM_133636 HELQ EXON Missense_L448W exm410372 4 84368068 [T/C] NM_133636 HELQ EXON Missense_I438V exm410378 4 84369985 [T/C] NM_133636 HELQ EXON Missense_R381Q exm410386 4 84374480 [T/C] NM_133636 HELQ EXON Missense_V306I exm410391 4 84374630 [T/C] NM_133636 HELQ EXON Missense_S256G exm410393 4 84374657 [T/C] NM_133636 HELQ EXON Missense_D247N exm410396 4 84374692 [A/G] NM_133636 HELQ EXON Missense_L235P exm410399 4 84374746 [A/G] NM_133636 HELQ EXON Missense_S217F exm410400 4 84374812 [A/G] NM_133636 HELQ EXON Missense_V195A exm410405 4 84374966 [T/C] NM_133636 HELQ EXON Missense_A144T exm2080791 4 84375064 [T/C] NM_133636 HELQ EXON Missense_Y111C exm410413 4 84376639 [C/G] NM_133636 HELQ EXON Missense_D70H exm2256756 4 84376697 [A/G] NM_133636 HELQ EXON Synonymous_N50N exm410418 4 84376711 [T/C] NM_133636 HELQ EXON Missense_M46V exm410421 4 84376741 [A/G] NM_133636 HELQ EXON Missense_P36S exm410422 4 84376743 [T/A] NM_133636 HELQ EXON Missense_V35E exm410426 4 84376794 [T/C] NM_133636 HELQ EXON Missense_N18S exm410427 4 84376800 [T/C] NM_133636 HELQ EXON Missense_K16R exm410461 4 84383735 [T/C] NM_139076 FAM175A EXON Missense_D373N exm410463 4 84383770 [T/C] NM_139076 FAM175A EXON Missense_R361Q exm410465 4 84383810 [T/C] NM_139076 FAM175A EXON Missense_A348T exm410470 4 84383935 [A/G] NM_139076 FAM175A EXON Missense_V306A exm410471 4 84383955 [T/C] NM_139076 FAM175A EXON Missense_M299I exm410472 4 84383999 [A/G] NM_139076 FAM175A EXON Missense_R285W exm410477 4 84388608 [T/G] NM_139076 FAM175A EXON Missense_K227T exm410480 4 84390204 [A/G] NM_139076 FAM175A EXON Nonsense_R193X exm2276863 4 84391468 [A/G] NM_139076 FAM175A EXON Nonsense_Q122X exm410495 4 84403360 [T/C] NM_139076 FAM175A EXON Missense_K42R exm410509 4 84457903 [T/C] NM_001256422,NM_001256421,NM_032717 AGPAT9,AGPAT9,AGPAT9 EXON Missense_V43A,Missense_V43A,Missense_V43A exm410511 4 84465731 [A/G] NM_001256422,NM_001256421,NM_032717 AGPAT9,AGPAT9,AGPAT9 EXON Missense_I62V,Missense_I62V,Missense_I62V exm410515 4 84502831 [A/G] NM_001256422,NM_001256421,NM_032717 AGPAT9,AGPAT9,AGPAT9 EXON Missense_E109K,Missense_E109K,Missense_E109K exm410517 4 84502892 [A/G] NM_001256422,NM_001256421,NM_032717 AGPAT9,AGPAT9,AGPAT9 EXON Missense_R129K,Missense_R129K,Missense_R129K exm410524 4 84508448 [A/G] NM_001256422,NM_001256421,NM_032717 AGPAT9,AGPAT9,AGPAT9 EXON Missense_G174R,Missense_G174R,Missense_G174R exm410530 4 84509367 [A/G] NM_001256422,NM_001256421,NM_032717 AGPAT9,AGPAT9,AGPAT9 EXON Missense_K187E,Missense_K187E,Missense_K187E exm410532 4 84511351 [A/G] NM_001256422,NM_001256421,NM_032717 AGPAT9,AGPAT9,AGPAT9 Silent,Silent,Silent exm410544 4 84518066 [C/G] NM_001256422,NM_001256421,NM_032717 AGPAT9,AGPAT9,AGPAT9 EXON Missense_G304R,Missense_G304R,Missense_G304R exm410556 4 84519270 [T/C] NM_001256422,NM_001256421,NM_032717 AGPAT9,AGPAT9,AGPAT9 EXON Nonsense_R355X,Nonsense_R355X,Nonsense_R355X exm410560 4 84519828 [A/G] NM_001256422,NM_001256421,NM_032717 AGPAT9,AGPAT9,AGPAT9 EXON Missense_R386K,Missense_R386K,Missense_R386K exm410561 4 84519845 [C/G] NM_001256422,NM_001256421,NM_032717 AGPAT9,AGPAT9,AGPAT9 EXON Missense_A392P,Missense_A392P,Missense_A392P exm410562 4 84525829 [A/G] NM_001256422,NM_001256421,NM_032717 AGPAT9,AGPAT9,AGPAT9 EXON Missense_G405E,Missense_G405E,Missense_G405E exm2265728 4 84580859 [A/G] exm-rs4129090 4 84941806 [T/C] exm2261769 4 85090749 [A/G] exm2261770 4 85401169 [A/G] exm410572 4 85414483 [A/C] NM_006168 NKX6-1 EXON Missense_G355C exm410575 4 85414579 [T/C] NM_006168 NKX6-1 EXON Missense_D323N exm410601 4 85419300 [T/C] NM_006168 NKX6-1 EXON Missense_M28V exm410604 4 85525406 [T/C] NM_001263 CDS1 EXON Missense_I43T exm410607 4 85525421 [G/C] NM_001263 CDS1 EXON Missense_G48A exm410610 4 85525466 [T/C] NM_001263 CDS1 EXON Missense_P63L exm410613 4 85530633 [T/G] NM_001263 CDS1 EXON Missense_L99F exm410616 4 85538744 [A/C] NM_001263 CDS1 EXON Missense_H124N exm410617 4 85538793 [T/C] NM_001263 CDS1 EXON Missense_P140L exm410622 4 85540674 [G/C] NM_001263 CDS1 EXON Missense_L190V exm410637 4 85564210 [A/G] NM_001263 CDS1 EXON Missense_S356G exm410643 4 85569724 [A/G] NM_001263 CDS1 EXON Missense_S424N exm410652 4 85594116 [A/G] NM_014991 WDFY3 EXON Missense_R3496C exm2080962 4 85600096 [A/G] NM_014991 WDFY3 EXON Missense_R3375W exm410708 4 85612894 [T/C] NM_014991 WDFY3 EXON Missense_I3032V exm2256762 4 85617141 [A/G] NM_014991 WDFY3 EXON Synonymous_F2961F exm410735 4 85638153 [T/C] NM_014991 WDFY3 EXON Missense_I2591V exm2241376 4 85654590 [A/G] NM_014991 WDFY3 EXON Missense_M2389T exm410770 4 85661400 [T/C] NM_014991 WDFY3 EXON Missense_N2135S exm410792 4 85676433 [T/C] NM_014991 WDFY3 EXON Missense_S1849G exm410799 4 85678123 [A/C] NM_014991 WDFY3 EXON Missense_V1794F exm410801 4 85678252 [A/C] NM_014991 WDFY3 EXON Missense_C1751G exm2265729 4 85678624 [A/G] NM_014991 WDFY3 Silent exm410823 4 85699687 [A/G] NM_014991 WDFY3 EXON Missense_T1496I exm410828 4 85701403 [A/G] NM_014991 WDFY3 EXON Missense_V1408A exm410836 4 85707214 [T/C] NM_014991 WDFY3 EXON Missense_Y1327C exm410842 4 85708770 [A/G] NM_014991 WDFY3 EXON Missense_R1256C exm410848 4 85710879 [T/C] NM_014991 WDFY3 EXON Synonymous_K1223K exm2081058 4 85710917 [T/C] NM_014991 WDFY3 EXON Missense_A1211T exm410851 4 85715702 [A/C] NM_014991 WDFY3 EXON Missense_S1153A exm410853 4 85715741 [A/C] NM_014991 WDFY3 EXON Missense_A1140S exm2081059 4 85715779 [T/C] NM_014991 WDFY3 EXON Missense_R1127H exm2081062 4 85716128 [C/G] NM_014991 WDFY3 EXON Missense_L1058V exm410859 4 85717696 [G/C] NM_014991 WDFY3 EXON Missense_D1049H exm410866 4 85722852 [A/G] NM_014991 WDFY3 EXON Missense_R925W exm2256763 4 85722862 [T/C] NM_014991 WDFY3 EXON Synonymous_P921P exm2081073 4 85724552 [T/C] NM_014991 WDFY3 EXON Missense_H833R exm410875 4 85724595 [A/G] NM_014991 WDFY3 EXON Missense_P819S exm410881 4 85731098 [A/G] NM_014991 WDFY3 EXON Missense_R763W exm410882 4 85731103 [A/G] NM_014991 WDFY3 EXON Missense_T761M exm410889 4 85731478 [T/C] NM_014991 WDFY3 EXON Missense_R636Q exm410890 4 85731497 [T/C] NM_014991 WDFY3 EXON Missense_A630T exm410894 4 85738576 [A/G] NM_014991 WDFY3 EXON Missense_T619M exm410897 4 85738655 [T/G] NM_014991 WDFY3 EXON Missense_I593L exm410902 4 85741330 [A/C] NM_014991 WDFY3 EXON Missense_R534I exm410906 4 85742393 [T/C] NM_014991 WDFY3 EXON Missense_S479G exm410913 4 85742624 [T/C] NM_014991 WDFY3 EXON Missense_I402V exm410916 4 85748048 [T/C] NM_014991 WDFY3 EXON Missense_S348N exm410933 4 85758141 [T/C] NM_014991 WDFY3 EXON Missense_A173T exm410937 4 85762338 [A/G] NM_014991 WDFY3 EXON Missense_T128M exm410949 4 85781681 [T/C] NM_014991 WDFY3 EXON Missense_A22T exm2269789 4 86143981 [T/C] exm410963 4 86491702 [A/G] NM_001025616 ARHGAP24 EXON Missense_E3G exm410966 4 86491814 [A/G] NM_001025616 ARHGAP24 EXON Nonsense_W40X exm2264099 4 86594072 [A/C] NM_001025616 ARHGAP24 Silent exm-rs7692808 4 86641149 [A/G] NM_001025616 ARHGAP24 Silent exm-rs7660702 4 86651464 [T/C] NM_001025616 ARHGAP24 Silent exm2265730 4 86808963 [A/G] NM_001025616,NM_001042669 ARHGAP24,ARHGAP24 Silent,Silent exm410974 4 86844816 [A/G] NM_001025616,NM_001042669 ARHGAP24,ARHGAP24 EXON Missense_R95Q,Silent exm410981 4 86852097 [T/G] NM_001025616,NM_001042669,NM_031305 ARHGAP24,ARHGAP24,ARHGAP24 EXON Silent,Silent,Missense_R5L exm410991 4 86863252 [A/G] NM_001025616,NM_001042669,NM_031305 ARHGAP24,ARHGAP24,ARHGAP24 EXON Missense_R142H,Missense_R47H,Missense_R49H exm411008 4 86896041 [A/G] NM_001025616,NM_001042669,NM_031305 ARHGAP24,ARHGAP24,ARHGAP24 EXON Missense_G245S,Missense_G150S,Missense_G152S exm411020 4 86915872 [A/G] NM_001025616,NM_001042669,NM_031305 ARHGAP24,ARHGAP24,ARHGAP24 EXON Missense_M355I,Missense_M260I,Missense_M262I exm411021 4 86915883 [A/G] NM_001025616,NM_001042669,NM_031305 ARHGAP24,ARHGAP24,ARHGAP24 EXON Missense_Q359R,Missense_Q264R,Missense_Q266R exm411026 4 86916056 [G/C] NM_001025616,NM_001042669,NM_031305 ARHGAP24,ARHGAP24,ARHGAP24 EXON Missense_P417A,Missense_P322A,Missense_P324A exm411031 4 86916122 [A/G] NM_001025616,NM_001042669,NM_031305 ARHGAP24,ARHGAP24,ARHGAP24 EXON Missense_S439G,Missense_S344G,Missense_S346G exm411034 4 86916193 [A/C] NM_001025616,NM_001042669,NM_031305 ARHGAP24,ARHGAP24,ARHGAP24 EXON Missense_S462R,Missense_S367R,Missense_S369R exm411035 4 86916225 [T/G] NM_001025616,NM_001042669,NM_031305 ARHGAP24,ARHGAP24,ARHGAP24 EXON Missense_G473V,Missense_G378V,Missense_G380V exm411036 4 86916228 [T/C] NM_001025616,NM_001042669,NM_031305 ARHGAP24,ARHGAP24,ARHGAP24 EXON Missense_T474M,Missense_T379M,Missense_T381M exm411039 4 86916249 [T/C] NM_001025616,NM_001042669,NM_031305 ARHGAP24,ARHGAP24,ARHGAP24 EXON Missense_T481M,Missense_T386M,Missense_T388M exm411043 4 86916303 [A/G] NM_001025616,NM_001042669,NM_031305 ARHGAP24,ARHGAP24,ARHGAP24 EXON Missense_R499Q,Missense_R404Q,Missense_R406Q exm411047 4 86916422 [T/C] NM_001025616,NM_001042669,NM_031305 ARHGAP24,ARHGAP24,ARHGAP24 EXON Missense_F539L,Missense_F444L,Missense_F446L exm411057 4 86916672 [A/G] NM_001025616,NM_001042669,NM_031305 ARHGAP24,ARHGAP24,ARHGAP24 EXON Missense_R622H,Missense_R527H,Missense_R529H exm411063 4 86921668 [C/G] NM_001025616,NM_001042669,NM_031305 ARHGAP24,ARHGAP24,ARHGAP24 EXON Missense_M680I,Missense_M585I,Missense_M587I exm2081279 4 86921826 [C/G] NM_001025616,NM_001042669,NM_031305 ARHGAP24,ARHGAP24,ARHGAP24 EXON Missense_T733R,Missense_T638R,Missense_T640R exm411081 4 86950379 [A/C] NM_002753,NM_138981,NM_138982,NM_138980 MAPK10,MAPK10,MAPK10,MAPK10 EXON Missense_G408V,Missense_G263V,Missense_G408V,Missense_G370V exm411105 4 87028376 [A/G] NM_002753,NM_138981,NM_138982,NM_138980 MAPK10,MAPK10,MAPK10,MAPK10 EXON Synonymous_N122N,Silent,Synonymous_N122N,Synonymous_N84N exm2261772 4 87176315 [T/G] NM_002753,NM_138982,NM_138980 MAPK10,MAPK10,MAPK10 Silent,Silent,Silent exm2269790 4 87326724 [T/C] NM_002753 MAPK10 Silent exm411123 4 87556416 [A/G] NM_080684,NM_080685,NM_006264,NM_080683 PTPN13,PTPN13,PTPN13,PTPN13 EXON Missense_V3M,Missense_V3M,Missense_V3M,Missense_V3M exm411127 4 87593550 [A/G] NM_080684,NM_080685,NM_006264,NM_080683 PTPN13,PTPN13,PTPN13,PTPN13 EXON Missense_I50V,Missense_I50V,Missense_I50V,Missense_I50V exm411130 4 87593670 [G/C] NM_080684,NM_080685,NM_006264,NM_080683 PTPN13,PTPN13,PTPN13,PTPN13 EXON Missense_L90V,Missense_L90V,Missense_L90V,Missense_L90V exm411138 4 87610221 [A/G] NM_080684,NM_080685,NM_006264,NM_080683 PTPN13,PTPN13,PTPN13,PTPN13 EXON Missense_A142T,Missense_A142T,Missense_A142T,Missense_A142T exm411142 4 87610302 [A/G] NM_080684,NM_080685,NM_006264,NM_080683 PTPN13,PTPN13,PTPN13,PTPN13 EXON Missense_V169M,Missense_V169M,Missense_V169M,Missense_V169M exm411160 4 87622503 [T/G] NM_080684,NM_080685,NM_006264,NM_080683 PTPN13,PTPN13,PTPN13,PTPN13 EXON Missense_D248E,Missense_D248E,Missense_D248E,Missense_D248E exm411164 4 87622624 [A/G] NM_080684,NM_080685,NM_006264,NM_080683 PTPN13,PTPN13,PTPN13,PTPN13 EXON Missense_G289S,Missense_G289S,Missense_G289S,Missense_G289S exm411166 4 87622723 [T/C] NM_080684,NM_080685,NM_006264,NM_080683 PTPN13,PTPN13,PTPN13,PTPN13 EXON Missense_R322C,Missense_R322C,Missense_R322C,Missense_R322C exm411167 4 87622727 [A/G] NM_080684,NM_080685,NM_006264,NM_080683 PTPN13,PTPN13,PTPN13,PTPN13 EXON Missense_R323H,Missense_R323H,Missense_R323H,Missense_R323H exm2081347 4 87622771 [A/G] NM_080684,NM_080685,NM_006264,NM_080683 PTPN13,PTPN13,PTPN13,PTPN13 EXON Missense_R338G,Missense_R338G,Missense_R338G,Missense_R338G exm411171 4 87622802 [G/C] NM_080684,NM_080685,NM_006264,NM_080683 PTPN13,PTPN13,PTPN13,PTPN13 EXON Missense_S348T,Missense_S348T,Missense_S348T,Missense_S348T exm2081348 4 87622841 [T/C] NM_080684,NM_080685,NM_006264,NM_080683 PTPN13,PTPN13,PTPN13,PTPN13 EXON Missense_P361L,Missense_P361L,Missense_P361L,Missense_P361L exm411173 4 87622856 [A/G] NM_080684,NM_080685,NM_006264,NM_080683 PTPN13,PTPN13,PTPN13,PTPN13 EXON Missense_R366Q,Missense_R366Q,Missense_R366Q,Missense_R366Q exm411175 4 87622903 [T/C] NM_080684,NM_080685,NM_006264,NM_080683 PTPN13,PTPN13,PTPN13,PTPN13 EXON Nonsense_R382X,Nonsense_R382X,Nonsense_R382X,Nonsense_R382X exm411182 4 87637748 [A/G] NM_080684,NM_080685,NM_006264,NM_080683 PTPN13,PTPN13,PTPN13,PTPN13 EXON Missense_I421V,Missense_I421V,Missense_I421V,Missense_I421V exm411184 4 87638213 [A/G] NM_080684,NM_080685,NM_006264,NM_080683 PTPN13,PTPN13,PTPN13,PTPN13 EXON Missense_S443N,Missense_S443N,Missense_S443N,Missense_S443N exm411188 4 87643398 [T/A] NM_080684,NM_080685,NM_006264,NM_080683 PTPN13,PTPN13,PTPN13,PTPN13 EXON Missense_L473F,Missense_L473F,Missense_L473F,Missense_L473F exm411192 4 87643478 [G/C] NM_080684,NM_080685,NM_006264,NM_080683 PTPN13,PTPN13,PTPN13,PTPN13 EXON Missense_R500P,Missense_R500P,Missense_R500P,Missense_R500P exm411197 4 87653569 [A/G] NM_080684,NM_080685,NM_006264,NM_080683 PTPN13,PTPN13,PTPN13,PTPN13 EXON Missense_E542G,Missense_E542G,Missense_E542G,Missense_E542G exm411204 4 87653851 [T/C] NM_080684,NM_080685,NM_006264,NM_080683 PTPN13,PTPN13,PTPN13,PTPN13 EXON Missense_V597A,Missense_V597A,Missense_V597A,Missense_V597A exm2274032 4 87653856 [G/C] NM_080684,NM_080685,NM_006264,NM_080683 PTPN13,PTPN13,PTPN13,PTPN13 EXON Missense_D599H,Missense_D599H,Missense_D599H,Missense_D599H exm411215 4 87656767 [T/G] NM_080684,NM_080685,NM_006264,NM_080683 PTPN13,PTPN13,PTPN13,PTPN13 EXON Missense_F724L,Missense_F724L,Missense_F724L,Missense_F724L exm411216 4 87656789 [A/G] NM_080684,NM_080685,NM_006264,NM_080683 PTPN13,PTPN13,PTPN13,PTPN13 EXON Missense_A732T,Missense_A732T,Missense_A732T,Missense_A732T exm411222 4 87662871 [A/G] NM_080684,NM_080685,NM_006264,NM_080683 PTPN13,PTPN13,PTPN13,PTPN13 EXON Missense_V797I,Missense_V797I,Missense_V797I,Missense_V797I exm411229 4 87666225 [A/G] NM_080684,NM_080685,NM_006264,NM_080683 PTPN13,PTPN13,PTPN13,PTPN13 EXON Missense_H865R,Missense_H865R,Missense_H865R,Missense_H865R exm411230 4 87666269 [T/G] NM_080684,NM_080685,NM_006264,NM_080683 PTPN13,PTPN13,PTPN13,PTPN13 EXON Missense_A880S,Missense_A880S,Missense_A880S,Missense_A880S exm411233 4 87671686 [A/G] NM_080684,NM_080685,NM_006264,NM_080683 PTPN13,PTPN13,PTPN13,PTPN13 EXON Silent,Missense_R905Q,Missense_R905Q,Missense_R905Q exm411234 4 87671740 [A/G] NM_080684,NM_080685,NM_006264,NM_080683 PTPN13,PTPN13,PTPN13,PTPN13 EXON Silent,Missense_R923Q,Missense_R923Q,Missense_R923Q exm411236 4 87671908 [A/G] NM_080684,NM_080685,NM_006264,NM_080683 PTPN13,PTPN13,PTPN13,PTPN13 EXON Silent,Missense_Y979C,Missense_Y979C,Missense_Y979C exm411237 4 87671916 [T/C] NM_080684,NM_080685,NM_006264,NM_080683 PTPN13,PTPN13,PTPN13,PTPN13 EXON Silent,Missense_R982W,Missense_R982W,Missense_R982W exm411241 4 87672235 [T/G] NM_080684,NM_080685,NM_006264,NM_080683 PTPN13,PTPN13,PTPN13,PTPN13 EXON Silent,Missense_D1042Y,Missense_D1042Y,Missense_D1042Y exm411242 4 87672251 [A/G] NM_080684,NM_080685,NM_006264,NM_080683 PTPN13,PTPN13,PTPN13,PTPN13 EXON Silent,Missense_E1047G,Missense_E1047G,Missense_E1047G exm411248 4 87674183 [A/G] NM_080684,NM_080685,NM_006264,NM_080683 PTPN13,PTPN13,PTPN13,PTPN13 EXON Silent,Missense_G1063E,Silent,Missense_G1063E exm411252 4 87679846 [A/G] NM_080684,NM_080685,NM_006264,NM_080683 PTPN13,PTPN13,PTPN13,PTPN13 EXON Missense_G919D,Missense_G1110D,Missense_G1091D,Missense_G1110D exm411256 4 87680155 [T/C] NM_080684,NM_080685,NM_006264,NM_080683 PTPN13,PTPN13,PTPN13,PTPN13 EXON Missense_I970T,Missense_I1161T,Missense_I1142T,Missense_I1161T exm411259 4 87683889 [T/C] NM_080684,NM_080685,NM_006264,NM_080683 PTPN13,PTPN13,PTPN13,PTPN13 EXON Missense_T997I,Missense_T1188I,Missense_T1169I,Missense_T1188I exm411265 4 87684111 [A/G] NM_080684,NM_080685,NM_006264,NM_080683 PTPN13,PTPN13,PTPN13,PTPN13 EXON Missense_N1071S,Missense_N1262S,Missense_N1243S,Missense_N1262S exm411266 4 87684113 [A/G] NM_080684,NM_080685,NM_006264,NM_080683 PTPN13,PTPN13,PTPN13,PTPN13 EXON Missense_G1072S,Missense_G1263S,Missense_G1244S,Missense_G1263S exm411268 4 87684148 [T/G] NM_080684,NM_080685,NM_006264,NM_080683 PTPN13,PTPN13,PTPN13,PTPN13 EXON Missense_W1083C,Missense_W1274C,Missense_W1255C,Missense_W1274C exm411270 4 87684200 [A/G] NM_080684,NM_080685,NM_006264,NM_080683 PTPN13,PTPN13,PTPN13,PTPN13 EXON Missense_E1101K,Missense_E1292K,Missense_E1273K,Missense_E1292K exm411274 4 87684234 [A/G] NM_080684,NM_080685,NM_006264,NM_080683 PTPN13,PTPN13,PTPN13,PTPN13 EXON Missense_K1112R,Missense_K1303R,Missense_K1284R,Missense_K1303R exm411277 4 87685796 [T/G] NM_080684,NM_080685,NM_006264,NM_080683 PTPN13,PTPN13,PTPN13,PTPN13 EXON Missense_F1165L,Missense_F1356L,Missense_F1337L,Missense_F1356L exm411281 4 87685876 [T/C] NM_080684,NM_080685,NM_006264,NM_080683 PTPN13,PTPN13,PTPN13,PTPN13 EXON Missense_T1192M,Missense_T1383M,Missense_T1364M,Missense_T1383M exm411282 4 87687593 [A/G] NM_080684,NM_080685,NM_006264,NM_080683 PTPN13,PTPN13,PTPN13,PTPN13 EXON Missense_V1227I,Missense_V1423I,Missense_V1399I,Missense_V1418I exm411285 4 87687616 [A/T] NM_080684,NM_080685,NM_006264,NM_080683 PTPN13,PTPN13,PTPN13,PTPN13 EXON Missense_S1234R,Missense_S1430R,Missense_S1406R,Missense_S1425R exm411286 4 87687650 [A/G] NM_080684,NM_080685,NM_006264,NM_080683 PTPN13,PTPN13,PTPN13,PTPN13 EXON Missense_T1246A,Missense_T1442A,Missense_T1418A,Missense_T1437A exm411287 4 87688969 [A/G] NM_080684,NM_080685,NM_006264,NM_080683 PTPN13,PTPN13,PTPN13,PTPN13 Silent,Silent,Silent,Silent exm411288 4 87689000 [T/C] NM_080684,NM_080685,NM_006264,NM_080683 PTPN13,PTPN13,PTPN13,PTPN13 EXON Missense_S1263P,Missense_S1459P,Missense_S1435P,Missense_S1454P exm411293 4 87690998 [A/G] NM_080684,NM_080685,NM_006264,NM_080683 PTPN13,PTPN13,PTPN13,PTPN13 EXON Missense_I1331M,Missense_I1527M,Missense_I1503M,Missense_I1522M exm2081404 4 87691080 [A/G] NM_080684,NM_080685,NM_006264,NM_080683 PTPN13,PTPN13,PTPN13,PTPN13 EXON Missense_V1359I,Missense_V1555I,Missense_V1531I,Missense_V1550I exm411304 4 87692393 [A/G] NM_080684,NM_080685,NM_006264,NM_080683 PTPN13,PTPN13,PTPN13,PTPN13 EXON Missense_E1434K,Missense_E1630K,Missense_E1606K,Missense_E1625K exm2081408 4 87692462 [A/G] NM_080684,NM_080685,NM_006264,NM_080683 PTPN13,PTPN13,PTPN13,PTPN13 EXON Missense_R1457G,Missense_R1653G,Missense_R1629G,Missense_R1648G exm411306 4 87692496 [A/G] NM_080684,NM_080685,NM_006264,NM_080683 PTPN13,PTPN13,PTPN13,PTPN13 EXON Missense_G1468E,Missense_G1664E,Missense_G1640E,Missense_G1659E exm2275758 4 87692523 [A/C] NM_080684,NM_080685,NM_006264,NM_080683 PTPN13,PTPN13,PTPN13,PTPN13 EXON Missense_A1477E,Missense_A1673E,Missense_A1649E,Missense_A1668E exm411307 4 87692529 [T/C] NM_080684,NM_080685,NM_006264,NM_080683 PTPN13,PTPN13,PTPN13,PTPN13 EXON Missense_I1479T,Missense_I1675T,Missense_I1651T,Missense_I1670T exm411313 4 87693959 [A/G] NM_080684,NM_080685,NM_006264,NM_080683 PTPN13,PTPN13,PTPN13,PTPN13 EXON Missense_A1542T,Missense_A1738T,Missense_A1714T,Missense_A1733T exm411316 4 87693992 [T/C] NM_080684,NM_080685,NM_006264,NM_080683 PTPN13,PTPN13,PTPN13,PTPN13 EXON Missense_S1553P,Missense_S1749P,Missense_S1725P,Missense_S1744P exm411341 4 87705622 [G/C] NM_080684,NM_080685,NM_006264,NM_080683 PTPN13,PTPN13,PTPN13,PTPN13 EXON Missense_A1819G,Missense_A2015G,Missense_A1991G,Missense_A2010G exm411349 4 87706420 [C/G] NM_080684,NM_080685,NM_006264,NM_080683 PTPN13,PTPN13,PTPN13,PTPN13 EXON Missense_S1861C,Missense_S2057C,Missense_S2033C,Missense_S2052C exm411353 4 87706506 [T/G] NM_080684,NM_080685,NM_006264,NM_080683 PTPN13,PTPN13,PTPN13,PTPN13 EXON Missense_Y1890D,Missense_Y2086D,Missense_Y2062D,Missense_Y2081D exm411354 4 87707016 [A/G] NM_080684,NM_080685,NM_006264,NM_080683 PTPN13,PTPN13,PTPN13,PTPN13 EXON Missense_N1900S,Missense_N2096S,Missense_N2072S,Missense_N2091S exm411358 4 87720333 [A/G] NM_080684,NM_080685,NM_006264,NM_080683 PTPN13,PTPN13,PTPN13,PTPN13 EXON Missense_T1970A,Missense_T2166A,Missense_T2142A,Missense_T2161A exm411365 4 87724970 [A/G] NM_080684,NM_080685,NM_006264,NM_080683 PTPN13,PTPN13,PTPN13,PTPN13 EXON Missense_R2014Q,Missense_R2210Q,Missense_R2186Q,Missense_R2205Q exm411377 4 87730934 [T/C] NM_080684,NM_080685,NM_006264,NM_080683 PTPN13,PTPN13,PTPN13,PTPN13 EXON Missense_R2175C,Missense_R2371C,Missense_R2347C,Missense_R2366C exm411379 4 87730949 [C/G] NM_080684,NM_080685,NM_006264,NM_080683 PTPN13,PTPN13,PTPN13,PTPN13 EXON Missense_L2180V,Missense_L2376V,Missense_L2352V,Missense_L2371V exm411380 4 87730980 [T/C] NM_080684,NM_080685,NM_006264,NM_080683 PTPN13,PTPN13,PTPN13,PTPN13 EXON Missense_T2190I,Missense_T2386I,Missense_T2362I,Missense_T2381I exm411386 4 87732221 [A/G] NM_080684,NM_080685,NM_006264,NM_080683 PTPN13,PTPN13,PTPN13,PTPN13 EXON Missense_R2250H,Missense_R2446H,Missense_R2422H,Missense_R2441H exm411388 4 87732228 [T/G] NM_080684,NM_080685,NM_006264,NM_080683 PTPN13,PTPN13,PTPN13,PTPN13 EXON Missense_M2252I,Missense_M2448I,Missense_M2424I,Missense_M2443I exm411393 4 87735618 [A/G] NM_080684,NM_080685,NM_006264,NM_080683 PTPN13,PTPN13,PTPN13,PTPN13 EXON Missense_I2267V,Missense_I2463V,Missense_I2439V,Missense_I2458V exm411398 4 87744883 [G/C] NM_197965 SLC10A6 EXON Missense_H364Q exm411403 4 87746612 [T/C] NM_197965 SLC10A6 EXON Missense_G294R exm411409 4 87749297 [A/G] NM_197965 SLC10A6 EXON Missense_L204F exm411410 4 87749312 [T/C] NM_197965 SLC10A6 EXON Missense_V199I exm411414 4 87752976 [C/G] NM_197965 SLC10A6 EXON Missense_R185T exm411417 4 87753028 [T/C] NM_197965 SLC10A6 EXON Missense_T168A exm411425 4 87769929 [T/C] NM_197965 SLC10A6 EXON Missense_I114V exm411426 4 87769944 [T/C] NM_197965 SLC10A6 EXON Missense_G109S exm411435 4 87770157 [A/C] NM_197965 SLC10A6 EXON Missense_S38A exm411438 4 87770236 [T/G] NM_197965 SLC10A6 EXON Nonsense_C11X exm411439 4 87770252 [A/G] NM_197965 SLC10A6 EXON Missense_S6F exm411443 4 87808969 [A/G] NM_144645 C4orf36 EXON Nonsense_Q100X exm411444 4 87809020 [G/C] NM_144645 C4orf36 EXON Missense_V83L exm411445 4 87809025 [T/C] NM_144645 C4orf36 EXON Missense_Y81C exm411447 4 87809035 [T/C] NM_144645 C4orf36 EXON Missense_E78K exm411451 4 87809387 [T/G] NM_144645 C4orf36 EXON Missense_S36Y exm411456 4 87809426 [T/C] NM_144645 C4orf36 EXON Missense_Q23R exm411460 4 87812621 [T/C] NM_144645 C4orf36 EXON Missense_S18N exm411464 4 87812672 [A/G] NM_144645 C4orf36 EXON Missense_M1T exm2269938 4 87924979 [T/C] NM_001166693 AFF1 Silent exm411479 4 87967323 [A/T] NM_001166693,NM_005935 AFF1,AFF1 EXON Missense_Y15F,Missense_Y8F exm2277284 4 87968162 [C/G] NM_001166693,NM_005935 AFF1,AFF1 EXON Missense_G159R,Missense_G152R exm411498 4 87968165 [A/C] NM_001166693,NM_005935 AFF1,AFF1 EXON Missense_P160T,Missense_P153T exm411506 4 87968271 [T/C] NM_001166693,NM_005935 AFF1,AFF1 EXON Missense_S195L,Missense_S188L exm411512 4 87968375 [T/C] NM_001166693,NM_005935 AFF1,AFF1 EXON Missense_R230W,Missense_R223W exm411513 4 87968379 [T/C] NM_001166693,NM_005935 AFF1,AFF1 EXON Missense_T231M,Missense_T224M exm411519 4 87968514 [T/C] NM_001166693,NM_005935 AFF1,AFF1 EXON Missense_P276L,Missense_P269L exm411523 4 87968562 [T/C] NM_001166693,NM_005935 AFF1,AFF1 EXON Missense_A292V,Missense_A285V exm411529 4 87968736 [A/C] NM_001166693,NM_005935 AFF1,AFF1 EXON Missense_Q350P,Missense_Q343P exm2256770 4 88008782 [A/G] NM_001166693,NM_005935 AFF1,AFF1 Silent,Silent exm411557 4 88026981 [T/A] NM_001166693,NM_005935 AFF1,AFF1 EXON Missense_S454T,Missense_S447T exm-rs442177 4 88030261 [T/G] NM_001166693,NM_005935 AFF1,AFF1 Silent,Silent exm411568 4 88035621 [T/C] NM_001166693,NM_005935 AFF1,AFF1 EXON Missense_R546W,Missense_R539W exm411569 4 88035624 [T/C] NM_001166693,NM_005935 AFF1,AFF1 EXON Missense_R547W,Missense_R540W exm411580 4 88035804 [A/G] NM_001166693,NM_005935 AFF1,AFF1 EXON Missense_V607I,Missense_V600I exm411585 4 88035907 [T/C] NM_001166693,NM_005935 AFF1,AFF1 EXON Missense_S641F,Missense_S634F exm411586 4 88035946 [T/C] NM_001166693,NM_005935 AFF1,AFF1 EXON Missense_T654M,Missense_T647M exm411599 4 88036116 [A/G] NM_001166693,NM_005935 AFF1,AFF1 EXON Missense_V711I,Missense_V704I exm411600 4 88036146 [T/C] NM_001166693,NM_005935 AFF1,AFF1 EXON Missense_H721Y,Missense_H714Y exm411607 4 88036182 [A/C] NM_001166693,NM_005935 AFF1,AFF1 EXON Missense_Q733K,Missense_Q726K exm411610 4 88036225 [T/C] NM_001166693,NM_005935 AFF1,AFF1 EXON Missense_P747L,Missense_P740L exm411614 4 88036308 [T/G] NM_001166693,NM_005935 AFF1,AFF1 EXON Missense_D775Y,Missense_D768Y exm411620 4 88036358 [T/G] NM_001166693,NM_005935 AFF1,AFF1 EXON Missense_R791S,Missense_R784S exm411621 4 88036378 [T/C] NM_001166693,NM_005935 AFF1,AFF1 EXON Missense_P798L,Missense_P791L exm411625 4 88046210 [A/G] NM_001166693,NM_005935 AFF1,AFF1 EXON Missense_D830N,Missense_D823N exm411628 4 88046242 [G/C] NM_001166693,NM_005935 AFF1,AFF1 EXON Missense_I840M,Missense_I833M exm411637 4 88047328 [T/C] NM_001166693,NM_005935 AFF1,AFF1 EXON Missense_P884L,Missense_P877L exm411648 4 88048214 [T/C] NM_001166693,NM_005935 AFF1,AFF1 EXON Missense_P950S,Missense_P943S exm411662 4 88052985 [T/C] NM_001166693,NM_005935 AFF1,AFF1 EXON Missense_P1048S,Missense_P1041S exm411664 4 88053456 [T/G] NM_001166693,NM_005935 AFF1,AFF1 EXON Missense_M1069I,Missense_M1062I exm2273394 4 88058340 [G/C] NM_001166693,NM_005935 AFF1,AFF1 EXON Silent,Silent exm411693 4 88085076 [T/C] NM_020803 KLHL8 EXON Missense_N565D exm411697 4 88085177 [T/C] NM_020803 KLHL8 EXON Missense_S531N exm411698 4 88085180 [T/C] NM_020803 KLHL8 EXON Missense_R530Q exm411699 4 88085192 [T/C] NM_020803 KLHL8 EXON Missense_R526Q exm411703 4 88091339 [T/C] NM_020803 KLHL8 EXON Missense_V477M exm411715 4 88099704 [T/C] NM_020803 KLHL8 EXON Missense_I341V exm411719 4 88104382 [A/G] NM_020803 KLHL8 EXON Missense_R309W exm2241407 4 88106634 [T/A] NM_020803 KLHL8 EXON Missense_S178R exm411734 4 88106908 [A/C] NM_020803 KLHL8 EXON Missense_C87F exm411739 4 88116516 [T/C] NM_020803 KLHL8 EXON Missense_R59Q exm411741 4 88116529 [G/C] NM_020803 KLHL8 EXON Missense_G55R exm411745 4 88116591 [A/C] NM_020803 KLHL8 EXON Missense_S34I exm411747 4 88116637 [T/C] NM_020803 KLHL8 EXON Missense_K19E exm411756 4 88226437 [A/G] NM_178135,NM_001136230 HSD17B13,HSD17B13 EXON Missense_A279V,Missense_A243V exm411761 4 88231428 [T/G] NM_178135,NM_001136230 HSD17B13,HSD17B13 EXON Missense_P260Q,Missense_P224Q exm411762 4 88231429 [A/G] NM_178135,NM_001136230 HSD17B13,HSD17B13 EXON Missense_P260S,Missense_P224S exm411766 4 88231477 [T/C] NM_178135,NM_001136230 HSD17B13,HSD17B13 EXON Missense_R244G,Missense_R208G exm411769 4 88231491 [A/G] NM_178135,NM_001136230 HSD17B13,HSD17B13 EXON Missense_T239I,Missense_T203I exm411777 4 88235068 [G/C] NM_178135,NM_001136230 HSD17B13,HSD17B13 EXON Nonsense_S201X,Nonsense_S165X exm411781 4 88236673 [T/C] NM_178135,NM_001136230 HSD17B13,HSD17B13 EXON Missense_E177K,Missense_E141K exm411782 4 88236679 [T/C] NM_178135,NM_001136230 HSD17B13,HSD17B13 EXON Missense_G175S,Missense_G139S exm411791 4 88238293 [T/C] NM_178135,NM_001136230 HSD17B13,HSD17B13 EXON Missense_D134G,Missense_D98G exm411797 4 88239516 [T/G] NM_178135,NM_001136230 HSD17B13,HSD17B13 EXON Missense_S95R,Silent exm411809 4 88243948 [A/T] NM_178135,NM_001136230 HSD17B13,HSD17B13 EXON Missense_Y16N,Missense_Y16N exm411813 4 88258505 [A/G] NM_016245 HSD17B11 EXON Missense_R276C exm411817 4 88261712 [A/G] NM_016245 HSD17B11 EXON Missense_H248Y exm2256771 4 88280502 [T/C] NM_016245 HSD17B11 Silent exm411833 4 88295955 [T/C] NM_016245 HSD17B11 EXON Missense_I116V exm411851 4 88344154 [A/C] NM_001248011,NM_024047,NM_198038 NUDT9,NUDT9,NUDT9 EXON Missense_Q33K,Missense_Q33K,Silent exm411853 4 88356135 [A/G] NM_001248011,NM_024047,NM_198038 NUDT9,NUDT9,NUDT9 EXON Missense_N37S,Missense_N37S,Silent exm411874 4 88372858 [T/C] NM_001248011,NM_024047,NM_198038 NUDT9,NUDT9,NUDT9 EXON Missense_H222Y,Missense_H254Y,Missense_H204Y exm411880 4 88379063 [A/G] NM_001248011,NM_024047,NM_198038 NUDT9,NUDT9,NUDT9 EXON Missense_N283D,Missense_N315D,Missense_N265D exm411881 4 88379064 [A/G] NM_001248011,NM_024047,NM_198038 NUDT9,NUDT9,NUDT9 EXON Missense_N283S,Missense_N315S,Missense_N265S exm411894 4 88400666 [T/C] NM_001128310,NM_004684 SPARCL1,SPARCL1 EXON Missense_T628A,Missense_T628A exm411911 4 88411494 [T/A] NM_001128310,NM_004684 SPARCL1,SPARCL1 EXON Missense_T488S,Missense_T488S exm411915 4 88411950 [T/C] NM_001128310,NM_004684 SPARCL1,SPARCL1 EXON Missense_D458N,Missense_D458N exm411921 4 88412806 [T/C] NM_001128310,NM_004684 SPARCL1,SPARCL1 EXON Missense_T419A,Missense_T419A exm411924 4 88414754 [G/C] NM_001128310,NM_004684 SPARCL1,SPARCL1 EXON Missense_E400Q,Missense_E400Q exm2241412 4 88414795 [T/C] NM_001128310,NM_004684 SPARCL1,SPARCL1 EXON Missense_Q386R,Missense_Q386R exm411926 4 88414804 [A/G] NM_001128310,NM_004684 SPARCL1,SPARCL1 EXON Missense_I383T,Missense_I383T exm411934 4 88414970 [T/C] NM_001128310,NM_004684 SPARCL1,SPARCL1 EXON Missense_G328S,Missense_G328S exm411937 4 88415037 [G/C] NM_001128310,NM_004684 SPARCL1,SPARCL1 EXON Missense_I305M,Missense_I305M exm411938 4 88415038 [A/G] NM_001128310,NM_004684 SPARCL1,SPARCL1 EXON Missense_I305T,Missense_I305T exm411939 4 88415061 [G/C] NM_001128310,NM_004684 SPARCL1,SPARCL1 EXON Missense_E297D,Missense_E297D exm411941 4 88415194 [A/T] NM_001128310,NM_004684 SPARCL1,SPARCL1 EXON Missense_V253E,Missense_V253E exm411948 4 88415387 [T/C] NM_001128310,NM_004684 SPARCL1,SPARCL1 EXON Missense_G189R,Missense_G189R exm411949 4 88415394 [A/C] NM_001128310,NM_004684 SPARCL1,SPARCL1 EXON Missense_R186S,Missense_R186S exm411950 4 88415396 [T/C] NM_001128310,NM_004684 SPARCL1,SPARCL1 EXON Missense_R186G,Missense_R186G exm411951 4 88415416 [C/G] NM_001128310,NM_004684 SPARCL1,SPARCL1 EXON Missense_S179T,Missense_S179T exm411952 4 88415437 [T/C] NM_001128310,NM_004684 SPARCL1,SPARCL1 EXON Missense_H172R,Missense_H172R exm411957 4 88415566 [C/G] NM_001128310,NM_004684 SPARCL1,SPARCL1 EXON Missense_P129R,Missense_P129R exm411958 4 88415596 [A/G] NM_001128310,NM_004684 SPARCL1,SPARCL1 EXON Missense_T119I,Missense_T119I exm411960 4 88415636 [C/G] NM_001128310,NM_004684 SPARCL1,SPARCL1 EXON Missense_H106D,Missense_H106D exm2081642 4 88416147 [T/C] NM_001128310,NM_004684 SPARCL1,SPARCL1 EXON Missense_D63N,Missense_D63N exm411968 4 88416185 [T/C] NM_001128310,NM_004684 SPARCL1,SPARCL1 EXON Missense_E50G,Missense_E50G exm411969 4 88416188 [T/G] NM_001128310,NM_004684 SPARCL1,SPARCL1 EXON Missense_A49D,Missense_A49D exm411973 4 88416233 [A/G] NM_001128310,NM_004684 SPARCL1,SPARCL1 EXON Missense_T34M,Missense_T34M exm411978 4 88533290 [A/G] NM_014208 DSPP EXON Missense_E29K exm411979 4 88533296 [T/C] NM_014208 DSPP EXON Missense_S31P exm411985 4 88533540 [A/T] NM_014208 DSPP EXON Missense_R68W exm411989 4 88533603 [C/G] NM_014208 DSPP EXON Missense_G89R exm411992 4 88533697 [A/G] NM_014208 DSPP EXON Missense_G120D exm411994 4 88533706 [G/C] NM_014208 DSPP EXON Missense_G123A exm411995 4 88533730 [T/C] NM_014208 DSPP EXON Missense_I131T exm412009 4 88534029 [A/C] NM_014208 DSPP EXON Missense_P231T exm412011 4 88534051 [A/G] NM_014208 DSPP EXON Missense_G238D exm412013 4 88534065 [A/G] NM_014208 DSPP EXON Missense_D243N exm412018 4 88534140 [T/G] NM_014208 DSPP EXON Missense_G268W exm412022 4 88534241 [T/G] NM_014208 DSPP EXON Missense_S301R exm412028 4 88534326 [A/G] NM_014208 DSPP EXON Missense_A330T exm412031 4 88534362 [A/G] NM_014208 DSPP EXON Missense_E342K exm412033 4 88534398 [T/C] NM_014208 DSPP EXON Missense_R354C exm412036 4 88534401 [A/G] NM_014208 DSPP EXON Missense_V355I exm412038 4 88534411 [A/G] NM_014208 DSPP EXON Missense_R358K exm412043 4 88535003 [G/C] NM_014208 DSPP EXON Missense_E397Q exm412045 4 88535073 [T/C] NM_014208 DSPP EXON Missense_V420A exm412063 4 88535592 [G/C] NM_014208 DSPP EXON Missense_S593T exm412109 4 88536196 [A/C] NM_014208 DSPP EXON Missense_S794R exm412156 4 88536497 [A/G] NM_014208 DSPP EXON Missense_S895G exm412356 4 88537715 [T/G] NM_014208 DSPP EXON Missense_D1301Y exm412365 4 88578209 [T/C] NM_004407,NM_001079911 DMP1,DMP1 EXON Missense_S27F,Missense_S27F exm412366 4 88578220 [A/G] NM_004407,NM_001079911 DMP1,DMP1 EXON Missense_E31K,Missense_E31K exm412369 4 88580405 [T/G] NM_004407,NM_001079911 DMP1,DMP1 Silent,Silent exm412373 4 88583135 [A/T] NM_004407,NM_001079911 DMP1,DMP1 EXON Missense_S69C,Missense_S53C exm412376 4 88583193 [T/C] NM_004407,NM_001079911 DMP1,DMP1 EXON Missense_A88V,Missense_A72V exm412384 4 88583351 [A/G] NM_004407,NM_001079911 DMP1,DMP1 EXON Missense_D141N,Missense_D125N exm412387 4 88583405 [A/C] NM_004407,NM_001079911 DMP1,DMP1 EXON Missense_Q159K,Missense_Q143K exm412389 4 88583447 [T/C] NM_004407,NM_001079911 DMP1,DMP1 EXON Missense_R173W,Missense_R157W exm412394 4 88583564 [A/G] NM_004407,NM_001079911 DMP1,DMP1 EXON Missense_D212N,Missense_D196N exm412400 4 88583654 [T/C] NM_004407,NM_001079911 DMP1,DMP1 EXON Missense_S242P,Missense_S226P exm412401 4 88583745 [A/G] NM_004407,NM_001079911 DMP1,DMP1 EXON Missense_R272H,Missense_R256H exm412403 4 88583774 [A/C] NM_004407,NM_001079911 DMP1,DMP1 EXON Missense_L282I,Missense_L266I exm412407 4 88583873 [C/G] NM_004407,NM_001079911 DMP1,DMP1 EXON Missense_G315R,Missense_G299R exm412409 4 88583927 [A/G] NM_004407,NM_001079911 DMP1,DMP1 EXON Missense_V333I,Missense_V317I exm412411 4 88583960 [A/G] NM_004407,NM_001079911 DMP1,DMP1 EXON Missense_A344T,Missense_A328T exm412419 4 88584081 [A/G] NM_004407,NM_001079911 DMP1,DMP1 EXON Missense_S384N,Missense_S368N exm2081679 4 88584134 [A/G] NM_004407,NM_001079911 DMP1,DMP1 EXON Missense_E402K,Missense_E386K exm412430 4 88584185 [T/C] NM_004407,NM_001079911 DMP1,DMP1 EXON Missense_P419S,Missense_P403S exm412435 4 88584318 [A/G] NM_004407,NM_001079911 DMP1,DMP1 EXON Missense_K463R,Missense_K447R exm412438 4 88584363 [A/C] NM_004407,NM_001079911 DMP1,DMP1 EXON Missense_D478A,Missense_D462A exm412452 4 88723842 [T/C] NM_004967 IBSP EXON Missense_H48Y exm412455 4 88727292 [A/G] NM_004967 IBSP EXON Missense_E68K exm412465 4 88732573 [C/G] NM_004967 IBSP EXON Missense_E155D exm412466 4 88732603 [A/C] NM_004967 IBSP EXON Missense_S165R exm412469 4 88732692 [A/G] NM_004967 IBSP EXON Missense_G195E exm412472 4 88732746 [A/G] NM_004967 IBSP EXON Missense_D213G exm412474 4 88732763 [A/G] NM_004967 IBSP EXON Missense_R219G exm412478 4 88732874 [A/G] NM_004967 IBSP EXON Missense_T256A exm412480 4 88732886 [A/G] NM_004967 IBSP EXON Missense_E260K exm412481 4 88732911 [T/C] NM_004967 IBSP EXON Missense_A268V exm412483 4 88732918 [T/A] NM_004967 IBSP EXON Missense_E270D exm412485 4 88732968 [A/G] NM_004967 IBSP EXON Missense_G287E exm412486 4 88732999 [C/G] NM_004967 IBSP EXON Nonsense_Y297X exm-rs7698623 4 88755828 [T/C] NM_001184694,NM_020203,NM_001184695,NM_001184697,NM_001184696 MEPE,MEPE,MEPE,MEPE,MEPE Silent,Silent,Silent,Silent,Silent exm412500 4 88766142 [A/T] NM_001184694,NM_020203,NM_001184695,NM_001184697,NM_001184696 MEPE,MEPE,MEPE,MEPE,MEPE EXON Missense_N41I,Missense_N41I,Silent,Silent,Silent exm412503 4 88766373 [T/C] NM_001184694,NM_020203,NM_001184695,NM_001184697,NM_001184696 MEPE,MEPE,MEPE,MEPE,MEPE EXON Missense_P118L,Missense_P118L,Missense_P5L,Missense_P5L,Missense_P5L exm412516 4 88766636 [A/G] NM_001184694,NM_020203,NM_001184695,NM_001184697,NM_001184696 MEPE,MEPE,MEPE,MEPE,MEPE EXON Missense_S206G,Missense_S206G,Missense_S93G,Missense_S93G,Missense_S93G exm412520 4 88766678 [A/G] NM_001184694,NM_020203,NM_001184695,NM_001184697,NM_001184696 MEPE,MEPE,MEPE,MEPE,MEPE EXON Missense_I220V,Missense_I220V,Missense_I107V,Missense_I107V,Missense_I107V exm412526 4 88766795 [A/G] NM_001184694,NM_020203,NM_001184695,NM_001184697,NM_001184696 MEPE,MEPE,MEPE,MEPE,MEPE EXON Missense_G259S,Missense_G259S,Missense_G146S,Missense_G146S,Missense_G146S exm412534 4 88766909 [C/G] NM_001184694,NM_020203,NM_001184695,NM_001184697,NM_001184696 MEPE,MEPE,MEPE,MEPE,MEPE EXON Missense_D297H,Missense_D297H,Missense_D184H,Missense_D184H,Missense_D184H exm412537 4 88766969 [A/G] NM_001184694,NM_020203,NM_001184695,NM_001184697,NM_001184696 MEPE,MEPE,MEPE,MEPE,MEPE EXON Missense_I317V,Missense_I317V,Missense_I204V,Missense_I204V,Missense_I204V exm412538 4 88766991 [T/C] NM_001184694,NM_020203,NM_001184695,NM_001184697,NM_001184696 MEPE,MEPE,MEPE,MEPE,MEPE EXON Missense_A324V,Missense_A324V,Missense_A211V,Missense_A211V,Missense_A211V exm412542 4 88767006 [T/C] NM_001184694,NM_020203,NM_001184695,NM_001184697,NM_001184696 MEPE,MEPE,MEPE,MEPE,MEPE EXON Missense_A329V,Missense_A329V,Missense_A216V,Missense_A216V,Missense_A216V exm412543 4 88767008 [A/G] NM_001184694,NM_020203,NM_001184695,NM_001184697,NM_001184696 MEPE,MEPE,MEPE,MEPE,MEPE EXON Missense_V330I,Missense_V330I,Missense_V217I,Missense_V217I,Missense_V217I exm412546 4 88767132 [A/G] NM_001184694,NM_020203,NM_001184695,NM_001184697,NM_001184696 MEPE,MEPE,MEPE,MEPE,MEPE EXON Missense_E371G,Missense_E371G,Missense_E258G,Missense_E258G,Missense_E258G exm412549 4 88767191 [A/G] NM_001184694,NM_020203,NM_001184695,NM_001184697,NM_001184696 MEPE,MEPE,MEPE,MEPE,MEPE EXON Missense_A391T,Missense_A391T,Missense_A278T,Missense_A278T,Missense_A278T exm412552 4 88767233 [C/G] NM_001184694,NM_020203,NM_001184695,NM_001184697,NM_001184696 MEPE,MEPE,MEPE,MEPE,MEPE EXON Missense_G405R,Missense_G405R,Missense_G292R,Missense_G292R,Missense_G292R exm412553 4 88767260 [T/G] NM_001184694,NM_020203,NM_001184695,NM_001184697,NM_001184696 MEPE,MEPE,MEPE,MEPE,MEPE EXON Missense_S414A,Missense_S414A,Missense_S301A,Missense_S301A,Missense_S301A exm2241424 4 88767298 [T/G] NM_001184694,NM_020203,NM_001184695,NM_001184697,NM_001184696 MEPE,MEPE,MEPE,MEPE,MEPE EXON Missense_R426S,Missense_R426S,Missense_R313S,Missense_R313S,Missense_R313S exm412557 4 88767366 [A/C] NM_001184694,NM_020203,NM_001184695,NM_001184697,NM_001184696 MEPE,MEPE,MEPE,MEPE,MEPE EXON Missense_N449T,Missense_N449T,Missense_N336T,Missense_N336T,Missense_N336T exm2081724 4 88767402 [A/C] NM_001184694,NM_020203,NM_001184695,NM_001184697,NM_001184696 MEPE,MEPE,MEPE,MEPE,MEPE EXON Missense_N461T,Missense_N461T,Missense_N348T,Missense_N348T,Missense_N348T exm412562 4 88767413 [A/C] NM_001184694,NM_020203,NM_001184695,NM_001184697,NM_001184696 MEPE,MEPE,MEPE,MEPE,MEPE EXON Missense_H465N,Missense_H465N,Missense_H352N,Missense_H352N,Missense_H352N exm412563 4 88767432 [A/G] NM_001184694,NM_020203,NM_001184695,NM_001184697,NM_001184696 MEPE,MEPE,MEPE,MEPE,MEPE EXON Missense_Y471C,Missense_Y471C,Missense_Y358C,Missense_Y358C,Missense_Y358C exm412564 4 88767461 [T/C] NM_001184694,NM_020203,NM_001184695,NM_001184697,NM_001184696 MEPE,MEPE,MEPE,MEPE,MEPE EXON Missense_R481W,Missense_R481W,Missense_R368W,Missense_R368W,Missense_R368W exm412566 4 88767481 [A/C] NM_001184694,NM_020203,NM_001184695,NM_001184697,NM_001184696 MEPE,MEPE,MEPE,MEPE,MEPE EXON Missense_Q487H,Missense_Q487H,Missense_Q374H,Missense_Q374H,Missense_Q374H exm412570 4 88767533 [T/C] NM_001184694,NM_020203,NM_001184695,NM_001184697,NM_001184696 MEPE,MEPE,MEPE,MEPE,MEPE EXON Missense_R505C,Missense_R505C,Missense_R392C,Missense_R392C,Missense_R392C exm2256775 4 88837705 [T/C] exm412579 4 88898217 [A/C] NM_001251829,NM_001251830,NM_001040060,NM_001040058,NM_000582 SPP1,SPP1,SPP1,SPP1,SPP1 EXON Missense_Q21K,Silent,Missense_Q21K,Missense_Q21K,Missense_Q21K exm412583 4 88901197 [A/G] NM_001251829,NM_001251830,NM_001040060,NM_001040058,NM_000582 SPP1,SPP1,SPP1,SPP1,SPP1 Silent,Silent,Silent,Silent,Silent exm412584 4 88901225 [T/G] NM_001251829,NM_001251830,NM_001040060,NM_001040058,NM_000582 SPP1,SPP1,SPP1,SPP1,SPP1 EXON Silent,Missense_A54S,Silent,Missense_A41S,Missense_A41S exm412586 4 88901249 [T/C] NM_001251829,NM_001251830,NM_001040060,NM_001040058,NM_000582 SPP1,SPP1,SPP1,SPP1,SPP1 EXON Silent,Missense_S62P,Silent,Missense_S49P,Missense_S49P exm412589 4 88901545 [T/A] NM_001251829,NM_001251830,NM_001040060,NM_001040058,NM_000582 SPP1,SPP1,SPP1,SPP1,SPP1 EXON Silent,Missense_N72Y,Missense_N32Y,Missense_N59Y,Silent exm2274034 4 88902704 [A/C] NM_001251829,NM_001251830,NM_001040060,NM_001040058,NM_000582 SPP1,SPP1,SPP1,SPP1,SPP1 EXON Missense_D57E,Missense_D111E,Missense_D71E,Missense_D98E,Missense_D84E exm412605 4 88902774 [A/G] NM_001251829,NM_001251830,NM_001040060,NM_001040058,NM_000582 SPP1,SPP1,SPP1,SPP1,SPP1 EXON Missense_E81K,Missense_E135K,Missense_E95K,Missense_E122K,Missense_E108K exm412611 4 88902888 [A/G] NM_001251829,NM_001251830,NM_001040060,NM_001040058,NM_000582 SPP1,SPP1,SPP1,SPP1,SPP1 EXON Missense_G119S,Missense_G173S,Missense_G133S,Missense_G160S,Missense_G146S exm412613 4 88902933 [A/C] NM_001251829,NM_001251830,NM_001040060,NM_001040058,NM_000582 SPP1,SPP1,SPP1,SPP1,SPP1 EXON Missense_R134S,Missense_R188S,Missense_R148S,Missense_R175S,Missense_R161S exm412618 4 88903774 [A/G] NM_001251829,NM_001251830,NM_001040060,NM_001040058,NM_000582 SPP1,SPP1,SPP1,SPP1,SPP1 EXON Missense_S183N,Missense_S237N,Missense_S197N,Missense_S224N,Missense_S210N exm412621 4 88903825 [A/G] NM_001251829,NM_001251830,NM_001040060,NM_001040058,NM_000582 SPP1,SPP1,SPP1,SPP1,SPP1 EXON Missense_K200R,Missense_K254R,Missense_K214R,Missense_K241R,Missense_K227R exm412627 4 88903881 [A/G] NM_001251829,NM_001251830,NM_001040060,NM_001040058,NM_000582 SPP1,SPP1,SPP1,SPP1,SPP1 EXON Missense_V219M,Missense_V273M,Missense_V233M,Missense_V260M,Missense_V246M exm412629 4 88903899 [T/C] NM_001251829,NM_001251830,NM_001040060,NM_001040058,NM_000582 SPP1,SPP1,SPP1,SPP1,SPP1 EXON Missense_L225F,Missense_L279F,Missense_L239F,Missense_L266F,Missense_L252F exm412631 4 88903915 [A/G] NM_001251829,NM_001251830,NM_001040060,NM_001040058,NM_000582 SPP1,SPP1,SPP1,SPP1,SPP1 EXON Missense_R230H,Missense_R284H,Missense_R244H,Missense_R271H,Missense_R257H exm412634 4 88904005 [A/G] NM_001251829,NM_001251830,NM_001040060,NM_001040058,NM_000582 SPP1,SPP1,SPP1,SPP1,SPP1 EXON Missense_R260H,Missense_R314H,Missense_R274H,Missense_R301H,Missense_R287H exm-rs2725236 4 88919106 [A/G] exm412650 4 88957414 [A/G] NM_000297 PKD2 EXON Missense_R251Q exm412652 4 88957446 [A/G] NM_000297 PKD2 EXON Missense_V262M exm412659 4 88959451 [A/G] NM_000297 PKD2 EXON Missense_S298G exm412679 4 88967828 [A/G] NM_000297 PKD2 EXON Missense_I452V exm412686 4 88967919 [T/G] NM_000297 PKD2 EXON Missense_F482C exm412692 4 88968020 [T/G] NM_000297 PKD2 EXON Missense_V516L exm412738 4 88989089 [A/C] NM_000297 PKD2 EXON Missense_M800L exm412740 4 88989102 [A/G] NM_000297 PKD2 EXON Missense_S804N exm412741 4 88989111 [A/G] NM_000297 PKD2 EXON Missense_R807Q exm412755 4 88996626 [A/G] NM_000297 PKD2 EXON Missense_R896H exm412756 4 88996659 [A/G] NM_000297 PKD2 EXON Missense_R907Q exm412757 4 88996664 [A/G] NM_000297 PKD2 EXON Missense_V909I exm412765 4 88996805 [A/G] NM_000297 PKD2 EXON Missense_E956K exm412774 4 89013496 [T/C] NM_001257386,NM_004827 ABCG2,ABCG2 EXON Silent,Missense_D620N exm412777 4 89015728 [T/C] NM_001257386,NM_004827 ABCG2,ABCG2 Silent,Silent exm412780 4 89015781 [T/A] NM_001257386,NM_004827 ABCG2,ABCG2 EXON Missense_K586N,Missense_N590Y exm412786 4 89018628 [T/C] NM_001257386,NM_004827 ABCG2,ABCG2 EXON Missense_T542A,Missense_T542A exm412787 4 89018670 [T/C] NM_001257386,NM_004827 ABCG2,ABCG2 EXON Missense_A528T,Missense_A528T exm2241428 4 89020503 [A/G] NM_001257386,NM_004827 ABCG2,ABCG2 EXON Missense_F489L,Missense_F489L exm2261774 4 89026109 [T/C] NM_001257386,NM_004827 ABCG2,ABCG2 Silent,Silent exm412814 4 89036115 [A/C] NM_001257386,NM_004827 ABCG2,ABCG2 EXON Missense_F313V,Missense_F313V exm2081802 4 89036155 [A/C] NM_001257386,NM_004827 ABCG2,ABCG2 EXON Missense_N299K,Missense_N299K exm412816 4 89036161 [C/G] NM_001257386,NM_004827 ABCG2,ABCG2 EXON Missense_I297M,Missense_I297M exm412839 4 89052266 [A/G] NM_001257386,NM_004827 ABCG2,ABCG2 EXON Missense_R160W,Missense_R160W exm2274035 4 89052361 [A/T] NM_001257386,NM_004827 ABCG2,ABCG2 EXON Missense_D128V,Missense_D128V exm2081817 4 89052957 [A/G] NM_001257386,NM_004827 ABCG2,ABCG2 EXON Nonsense_Q126X,Nonsense_Q126X exm412850 4 89052998 [T/G] NM_001257386,NM_004827 ABCG2,ABCG2 EXON Missense_P112Q,Missense_P112Q exm412856 4 89053728 [A/G] NM_001257386,NM_004827 ABCG2,ABCG2 EXON Missense_S88L,Missense_S88L exm412860 4 89053780 [T/C] NM_001257386,NM_004827 ABCG2,ABCG2 EXON Missense_M71V,Missense_M71V exm412867 4 89061083 [A/G] NM_001257386,NM_004827 ABCG2,ABCG2 EXON Missense_A22V,Missense_A22V exm412870 4 89061114 [T/C] NM_001257386,NM_004827 ABCG2,ABCG2 EXON Missense_V12M,Missense_V12M exm412877 4 89183809 [T/C] NM_152542 PPM1K EXON Missense_K353E exm412883 4 89186179 [T/C] NM_152542 PPM1K EXON Missense_E321K exm412887 4 89186282 [A/C] NM_152542 PPM1K EXON Missense_H286Q exm412896 4 89189930 [T/C] NM_152542 PPM1K EXON Missense_I224V exm412898 4 89189971 [T/C] NM_152542 PPM1K EXON Missense_R210Q exm412906 4 89198355 [T/C] NM_152542 PPM1K EXON Missense_T161A exm412909 4 89199300 [T/C] NM_152542 PPM1K EXON Missense_I146V exm2274036 4 89199384 [C/G] NM_152542 PPM1K EXON Missense_D118H exm412917 4 89199444 [T/C] NM_152542 PPM1K EXON Missense_A98T exm-rs893971 4 89203670 [A/G] NM_152542 PPM1K Silent exm412934 4 89300101 [A/G] NM_001165136,NM_017912 HERC6,HERC6 EXON Missense_R10G,Missense_R10G exm412948 4 89306659 [T/C] NM_001165136,NM_017912 HERC6,HERC6 EXON Missense_M123T,Missense_M123T exm412955 4 89311962 [T/C] NM_001165136,NM_017912 HERC6,HERC6 EXON Missense_C199R,Missense_C199R exm412957 4 89311994 [A/T] NM_001165136,NM_017912 HERC6,HERC6 EXON Missense_S209R,Missense_S209R exm412961 4 89312020 [A/G] NM_001165136,NM_017912 HERC6,HERC6 EXON Missense_R218H,Missense_R218H exm412966 4 89314687 [A/G] NM_001165136,NM_017912 HERC6,HERC6 EXON Missense_V238M,Missense_V238M exm412978 4 89319296 [T/C] NM_001165136,NM_017912 HERC6,HERC6 EXON Missense_F343L,Missense_F343L exm412983 4 89326043 [T/C] NM_001165136,NM_017912 HERC6,HERC6 EXON Missense_R370C,Missense_R370C exm412989 4 89334241 [C/G] NM_001165136,NM_017912 HERC6,HERC6 EXON Missense_L461V,Missense_L461V exm412991 4 89334266 [T/C] NM_001165136,NM_017912 HERC6,HERC6 EXON Missense_L469P,Missense_L469P exm412998 4 89338691 [A/G] NM_001165136,NM_017912 HERC6,HERC6 EXON Missense_N558S,Missense_N558S exm412999 4 89338731 [T/G] NM_001165136,NM_017912 HERC6,HERC6 EXON Missense_K571N,Missense_K571N exm413000 4 89345031 [A/G] NM_001165136,NM_017912 HERC6,HERC6 EXON Missense_R578Q,Missense_R578Q exm413001 4 89345049 [T/C] NM_001165136,NM_017912 HERC6,HERC6 EXON Missense_F584S,Missense_F584S exm413003 4 89345760 [T/C] NM_001165136,NM_017912 HERC6,HERC6 EXON Silent,Missense_T614I exm-IND4-89568841 4 89349819 [I/D] NM_001165136,NM_017912 HERC6,HERC6 EXON exm413016 4 89352378 [T/C] NM_001165136,NM_017912 HERC6,HERC6 EXON Missense_M688T,Missense_M724T exm413017 4 89352440 [A/C] NM_001165136,NM_017912 HERC6,HERC6 EXON Missense_M709L,Missense_M745L exm413020 4 89358080 [A/C] NM_001165136,NM_017912 HERC6,HERC6 EXON Missense_D778A,Missense_D814A exm413021 4 89358083 [A/C] NM_001165136,NM_017912 HERC6,HERC6 EXON Missense_A779D,Missense_A815D exm413025 4 89361055 [A/G] NM_001165136,NM_017912 HERC6,HERC6 EXON Missense_Y826C,Missense_Y862C exm413027 4 89361144 [T/C] NM_001165136,NM_017912 HERC6,HERC6 EXON Missense_Y856H,Missense_Y892H exm413034 4 89363401 [A/G] NM_001165136,NM_017912 HERC6,HERC6 EXON Missense_R917H,Missense_R953H exm413037 4 89363512 [A/C] NM_001165136,NM_017912 HERC6,HERC6 EXON Missense_S954Y,Missense_S990Y exm413040 4 89363604 [T/C] NM_001165136,NM_017912 HERC6,HERC6 EXON Nonsense_Q985X,Nonsense_Q1021X exm413046 4 89380540 [A/G] NM_016323 HERC5 EXON Missense_D103G exm413067 4 89385126 [A/G] NM_016323 HERC5 EXON Missense_A301T exm413068 4 89385130 [C/G] NM_016323 HERC5 EXON Missense_C302S exm413076 4 89389555 [C/G] NM_016323 HERC5 EXON Missense_L372F exm413084 4 89390403 [G/C] NM_016323 HERC5 EXON Missense_S410R exm413095 4 89393651 [A/G] NM_016323 HERC5 EXON Missense_M464V exm413100 4 89397091 [A/G] NM_016323 HERC5 EXON Missense_M498V exm413110 4 89407282 [A/G] NM_016323 HERC5 EXON Missense_C585Y exm413112 4 89407326 [T/C] NM_016323 HERC5 EXON Missense_R600C exm413113 4 89408247 [A/G] NM_016323 HERC5 EXON Missense_V627I exm413125 4 89414196 [A/G] NM_016323 HERC5 EXON Missense_G723R exm413126 4 89414248 [T/C] NM_016323 HERC5 EXON Missense_P740L exm413131 4 89414283 [T/C] NM_016323 HERC5 EXON Missense_S752P exm413155 4 89425507 [A/G] NM_016323 HERC5 EXON Missense_E903K exm2241435 4 89426973 [G/C] NM_016323 HERC5 EXON Missense_E1007Q exm413171 4 89442790 [T/C] NM_032906,NM_001042616 PYURF,PIGY EXON Silent,Missense_I51V exm413177 4 89442921 [A/G] NM_032906,NM_001042616 PYURF,PIGY EXON Silent,Missense_T7M exm413178 4 89442924 [C/G] NM_032906,NM_001042616 PYURF,PIGY EXON Silent,Missense_P6R exm2241436 4 89577147 [T/C] NM_001271602,NM_014606 HERC3,HERC3 EXON Missense_Y226H,Missense_Y344H exm413224 4 89583660 [A/G] NM_001271602,NM_014606 HERC3,HERC3 EXON Missense_V291I,Missense_V409I exm413227 4 89583691 [A/G] NM_001271602,NM_014606 HERC3,HERC3 EXON Missense_N301S,Missense_N419S exm413263 4 89601275 [T/C] NM_001271602,NM_014606 HERC3,HERC3 EXON Missense_A625V,Missense_A743V exm413269 4 89602346 [A/G] NM_001271602,NM_014606 HERC3,HERC3 EXON Missense_I675V,Missense_I793V exm413271 4 89602427 [T/G] NM_001271602,NM_014606 HERC3,HERC3 EXON Missense_V702L,Missense_V820L exm413278 4 89607952 [T/C] NM_001271602,NM_014606 HERC3,HERC3 EXON Missense_T740M,Missense_T858M exm413282 4 89608392 [A/G] NM_001271602,NM_014606 HERC3,HERC3 EXON Missense_I749V,Missense_I867V exm2241437 4 89618372 [A/C] NM_001271602,NM_014606,NM_153757 HERC3,HERC3,NAP1L5 EXON Silent,Silent,Missense_D178E exm413286 4 89618396 [G/C] NM_001271602,NM_014606,NM_153757 HERC3,HERC3,NAP1L5 EXON Silent,Silent,Missense_D170E exm413301 4 89618712 [T/G] NM_001271602,NM_014606,NM_153757 HERC3,HERC3,NAP1L5 EXON Silent,Silent,Missense_P65Q exm413302 4 89618713 [A/G] NM_001271602,NM_014606,NM_153757 HERC3,HERC3,NAP1L5 EXON Silent,Silent,Missense_P65S exm2241438 4 89618768 [G/C] NM_001271602,NM_014606,NM_153757 HERC3,HERC3,NAP1L5 EXON Silent,Silent,Missense_S46R exm413323 4 89625388 [T/A] NM_001271602,NM_014606 HERC3,HERC3 EXON Missense_M815L,Missense_M933L exm413325 4 89625427 [G/C] NM_001271602,NM_014606 HERC3,HERC3 EXON Missense_E828Q,Missense_E946Q exm413328 4 89625689 [A/G] NM_001271602,NM_014606 HERC3,HERC3 EXON Missense_T840A,Missense_T958A exm413334 4 89628051 [G/C] NM_001271602,NM_014606 HERC3,HERC3 EXON Missense_E913D,Missense_E1031D exm413356 4 89653153 [A/G] NM_001265578,NM_014883,NM_001265580,NM_001015045,NM_001265579 FAM13A,FAM13A,FAM13A,FAM13A,FAM13A EXON Missense_I608T,Missense_I948T,Missense_I594T,Missense_I622T,Missense_I594T exm413358 4 89653205 [A/G] NM_001265578,NM_014883,NM_001265580,NM_001015045,NM_001265579 FAM13A,FAM13A,FAM13A,FAM13A,FAM13A EXON Missense_P591S,Missense_P931S,Missense_P577S,Missense_P605S,Missense_P577S exm413366 4 89658706 [T/C] NM_001265578,NM_014883,NM_001265580,NM_001015045,NM_001265579 FAM13A,FAM13A,FAM13A,FAM13A,FAM13A EXON Missense_G515S,Missense_G855S,Missense_G501S,Missense_G529S,Silent exm413371 4 89660221 [A/C] NM_001265578,NM_014883,NM_001265580,NM_001015045,NM_001265579 FAM13A,FAM13A,FAM13A,FAM13A,FAM13A EXON Missense_V501G,Missense_V841G,Missense_V487G,Missense_V515G,Missense_V515G exm413373 4 89660254 [A/C] NM_001265578,NM_014883,NM_001265580,NM_001015045,NM_001265579 FAM13A,FAM13A,FAM13A,FAM13A,FAM13A EXON Missense_V490G,Missense_V830G,Missense_V476G,Missense_V504G,Missense_V504G exm413376 4 89668083 [T/C] NM_001265578,NM_014883,NM_001265580,NM_001015045,NM_001265579 FAM13A,FAM13A,FAM13A,FAM13A,FAM13A EXON Synonymous_P482P,Synonymous_P822P,Synonymous_P468P,Synonymous_P496P,Synonymous_P496P exm413378 4 89668088 [A/G] NM_001265578,NM_014883,NM_001265580,NM_001015045,NM_001265579 FAM13A,FAM13A,FAM13A,FAM13A,FAM13A EXON Missense_R481W,Missense_R821W,Missense_R467W,Missense_R495W,Missense_R495W exm413381 4 89668798 [T/C] NM_001265578,NM_014883,NM_001265580,NM_001015045,NM_001265579 FAM13A,FAM13A,FAM13A,FAM13A,FAM13A EXON Missense_R449H,Missense_R789H,Missense_R435H,Missense_R463H,Missense_R463H exm413384 4 89668816 [T/A] NM_001265578,NM_014883,NM_001265580,NM_001015045,NM_001265579 FAM13A,FAM13A,FAM13A,FAM13A,FAM13A EXON Missense_K443M,Missense_K783M,Missense_K429M,Missense_K457M,Missense_K457M exm413388 4 89668859 [T/C] NM_001265578,NM_014883,NM_001265580,NM_001015045,NM_001265579 FAM13A,FAM13A,FAM13A,FAM13A,FAM13A EXON Missense_V429I,Missense_V769I,Missense_V415I,Missense_V443I,Missense_V443I exm2256777 4 89670155 [T/C] NM_001265578,NM_014883,NM_001265580,NM_001015045,NM_001265579 FAM13A,FAM13A,FAM13A,FAM13A,FAM13A EXON Synonymous_P363P,Synonymous_P703P,Synonymous_P349P,Synonymous_P377P,Synonymous_P377P exm413401 4 89671058 [T/C] NM_001265578,NM_014883,NM_001265580,NM_001015045,NM_001265579 FAM13A,FAM13A,FAM13A,FAM13A,FAM13A EXON Missense_R308Q,Missense_R648Q,Missense_R294Q,Missense_R322Q,Missense_R322Q exm413406 4 89671591 [A/C] NM_001265578,NM_014883,NM_001265580,NM_001015045,NM_001265579 FAM13A,FAM13A,FAM13A,FAM13A,FAM13A EXON Missense_S302A,Missense_S642A,Missense_S288A,Missense_S316A,Missense_S316A exm413425 4 89680051 [T/C] NM_001265578,NM_014883,NM_001265580,NM_001015045,NM_001265579 FAM13A,FAM13A,FAM13A,FAM13A,FAM13A EXON Missense_S187N,Missense_S527N,Missense_S173N,Missense_S201N,Missense_S201N exm413434 4 89702464 [T/C] NM_001265578,NM_014883,NM_001265580,NM_001015045,NM_001265579 FAM13A,FAM13A,FAM13A,FAM13A,FAM13A EXON Missense_N97S,Missense_N437S,Missense_N83S,Missense_N111S,Missense_N111S exm413435 4 89702495 [T/C] NM_001265578,NM_014883,NM_001265580,NM_001015045,NM_001265579 FAM13A,FAM13A,FAM13A,FAM13A,FAM13A EXON Missense_I87V,Missense_I427V,Missense_I73V,Missense_I101V,Missense_I101V exm413440 4 89708947 [A/G] NM_001265578,NM_014883,NM_001265580,NM_001015045,NM_001265579 FAM13A,FAM13A,FAM13A,FAM13A,FAM13A EXON Missense_R70C,Missense_R410C,Missense_R56C,Missense_R84C,Missense_R84C exm-rs13133548 4 89740128 [A/G] NM_001265578,NM_014883,NM_001265580,NM_001015045,NM_001265579 FAM13A,FAM13A,FAM13A,FAM13A,FAM13A Silent,Silent,Silent,Silent,Silent exm2269794 4 89742764 [T/C] NM_001265578,NM_014883,NM_001265580,NM_001015045,NM_001265579 FAM13A,FAM13A,FAM13A,FAM13A,FAM13A Silent,Silent,Silent,Silent,Silent exm413464 4 89772246 [T/C] NM_014883 FAM13A EXON Missense_R311Q exm2082068 4 89772286 [A/G] NM_014883 FAM13A EXON Nonsense_Q298X exm413466 4 89772301 [A/C] NM_014883 FAM13A EXON Missense_A293S exm413468 4 89772321 [T/C] NM_014883 FAM13A EXON Missense_R286K exm-rs7671167 4 89883979 [T/C] NM_014883 FAM13A Silent exm413479 4 89912172 [T/C] NM_014883 FAM13A EXON Missense_R186H exm413480 4 89912173 [A/G] NM_014883 FAM13A EXON Missense_R186C exm413481 4 89912184 [T/C] NM_014883 FAM13A EXON Missense_H182R exm413482 4 89912193 [A/G] NM_014883 FAM13A EXON Missense_A179V exm413485 4 89912303 [T/C] NM_014883 FAM13A Silent exm413492 4 89941734 [T/C] NM_014883 FAM13A EXON Missense_V102M exm413496 4 89950680 [A/G] NM_014883 FAM13A EXON Missense_R50W exm413499 4 89950787 [A/G] NM_014883 FAM13A EXON Missense_A14V exm-rs16996151 4 89978800 [A/C] exm413509 4 90034309 [A/G] NM_145715 TIGD2 EXON Missense_T62A exm413516 4 90034595 [A/G] NM_145715 TIGD2 EXON Missense_G157D exm413521 4 90034730 [A/G] NM_145715 TIGD2 EXON Missense_C202Y exm413531 4 90035063 [A/G] NM_145715 TIGD2 EXON Missense_K313R exm413533 4 90035083 [A/G] NM_145715 TIGD2 EXON Missense_T320A exm413539 4 90035221 [A/G] NM_145715 TIGD2 EXON Missense_I366V exm2241444 4 90035314 [A/G] NM_145715 TIGD2 EXON Missense_G397S exm413542 4 90035348 [A/C] NM_145715 TIGD2 EXON Missense_A408D exm413548 4 90035428 [T/C] NM_145715 TIGD2 EXON Missense_R435W exm413551 4 90035549 [A/G] NM_145715 TIGD2 EXON Missense_H475R exm413553 4 90035669 [A/C] NM_145715 TIGD2 EXON Missense_K515T exm413555 4 90035697 [T/G] NM_145715 TIGD2 EXON Missense_N524K exm2269795 4 90168572 [T/C] NM_198281 GPRIN3 EXON Silent exm413560 4 90168945 [A/C] NM_198281 GPRIN3 EXON Missense_S773A exm413562 4 90168959 [T/C] NM_198281 GPRIN3 EXON Missense_R768H exm413564 4 90169011 [T/G] NM_198281 GPRIN3 EXON Missense_S751R exm413567 4 90169025 [T/C] NM_198281 GPRIN3 EXON Missense_R746K exm413568 4 90169041 [A/C] NM_198281 GPRIN3 EXON Missense_S741A exm413569 4 90169070 [T/G] NM_198281 GPRIN3 EXON Missense_T731N exm413575 4 90169257 [A/C] NM_198281 GPRIN3 EXON Missense_A669S exm413586 4 90169414 [T/G] NM_198281 GPRIN3 EXON Missense_S616R exm413587 4 90169424 [T/C] NM_198281 GPRIN3 EXON Missense_G613D exm413595 4 90169658 [T/G] NM_198281 GPRIN3 EXON Missense_A535E exm413597 4 90169684 [C/G] NM_198281 GPRIN3 EXON Missense_S526R exm413601 4 90169776 [A/C] NM_198281 GPRIN3 EXON Missense_A496S exm413608 4 90169848 [A/G] NM_198281 GPRIN3 EXON Missense_S472P exm413609 4 90169852 [C/G] NM_198281 GPRIN3 EXON Missense_Q470H exm413616 4 90169925 [A/G] NM_198281 GPRIN3 EXON Missense_V446A exm413617 4 90169946 [T/C] NM_198281 GPRIN3 EXON Missense_R439K exm413620 4 90170015 [A/C] NM_198281 GPRIN3 EXON Missense_G416V exm413623 4 90170046 [A/G] NM_198281 GPRIN3 EXON Missense_R406W exm413626 4 90170094 [A/G] NM_198281 GPRIN3 EXON Missense_P390S exm413627 4 90170097 [T/G] NM_198281 GPRIN3 EXON Missense_M389L exm413631 4 90170118 [A/G] NM_198281 GPRIN3 EXON Missense_S382P exm413632 4 90170129 [A/G] NM_198281 GPRIN3 EXON Missense_A378V exm413634 4 90170170 [T/G] NM_198281 GPRIN3 EXON Missense_S364R exm413646 4 90170393 [T/C] NM_198281 GPRIN3 EXON Missense_R290H exm413648 4 90170426 [A/G] NM_198281 GPRIN3 EXON Missense_P279L exm413649 4 90170438 [A/G] NM_198281 GPRIN3 EXON Missense_S275L exm413656 4 90170543 [T/C] NM_198281 GPRIN3 EXON Missense_R240K exm413659 4 90170625 [T/A] NM_198281 GPRIN3 EXON Missense_S213T exm2082129 4 90170669 [A/G] NM_198281 GPRIN3 EXON Missense_T198I exm413663 4 90170672 [T/C] NM_198281 GPRIN3 EXON Missense_G197E exm413665 4 90170724 [T/C] NM_198281 GPRIN3 EXON Missense_S180G exm413670 4 90170817 [T/A] NM_198281 GPRIN3 EXON Missense_S149T exm413678 4 90170951 [C/G] NM_198281 GPRIN3 EXON Missense_G104A exm413679 4 90170970 [T/C] NM_198281 GPRIN3 EXON Missense_G98S exm413687 4 90171057 [A/C] NM_198281 GPRIN3 EXON Missense_C69G exm413688 4 90171060 [A/C] NM_198281 GPRIN3 EXON Missense_V68F exm413689 4 90171075 [T/C] NM_198281 GPRIN3 EXON Missense_E63K exm413693 4 90171113 [A/G] NM_198281 GPRIN3 EXON Missense_A50V exm413696 4 90171147 [C/G] NM_198281 GPRIN3 EXON Missense_L39V exm413698 4 90171162 [A/G] NM_198281 GPRIN3 EXON Missense_R34W exm413703 4 90171195 [T/C] NM_198281 GPRIN3 EXON Missense_D23N exm2261776 4 90198463 [T/C] NM_198281 GPRIN3 Silent exm-rs356219 4 90637601 [A/G] exm-rs11931074 4 90639515 [T/G] exm-rs356220 4 90641340 [T/C] exm-rs2736990 4 90678541 [A/G] NM_000345,NM_001146054,NM_001146055,NM_007308 SNCA,SNCA,SNCA,SNCA Silent,Silent,Silent,Silent exm2241445 4 90756702 [A/C] NM_000345,NM_001146054,NM_001146055,NM_007308 SNCA,SNCA,SNCA,SNCA EXON Nonsense_Y39X,Nonsense_Y39X,Nonsense_Y39X,Nonsense_Y39X exm-rs6532197 4 90797301 [A/G] exm413733 4 90816294 [A/G] NM_007351 MMRN1 EXON Missense_T58A exm413737 4 90816361 [A/C] NM_007351 MMRN1 EXON Missense_K80T exm413741 4 90816448 [A/T] NM_007351 MMRN1 EXON Missense_V109E exm413743 4 90816463 [T/A] NM_007351 MMRN1 EXON Missense_N114I exm413747 4 90816552 [A/C] NM_007351 MMRN1 EXON Missense_S144R exm2082158 4 90816679 [A/G] NM_007351 MMRN1 EXON Missense_R186Q exm2269796 4 90819154 [T/C] NM_007351 MMRN1 Silent exm2082163 4 90830518 [A/G] NM_007351 MMRN1 EXON Missense_G239S exm413765 4 90833153 [A/G] NM_007351 MMRN1 EXON Missense_D268N exm413767 4 90833184 [T/C] NM_007351 MMRN1 EXON Missense_P278L exm413771 4 90844317 [A/G] NM_007351 MMRN1 Silent exm413772 4 90844376 [T/G] NM_007351 MMRN1 EXON Missense_G303V exm413775 4 90844405 [T/C] NM_007351 MMRN1 EXON Nonsense_Q313X exm413789 4 90856063 [A/G] NM_007351 MMRN1 EXON Missense_K411R exm2082179 4 90856148 [T/C] NM_007351 MMRN1 EXON Synonymous_A439A exm2256781 4 90856148 [T/C] NM_007351 MMRN1 EXON Synonymous_A439A exm413801 4 90856377 [T/G] NM_007351 MMRN1 EXON Missense_V516L exm413802 4 90856383 [A/G] NM_007351 MMRN1 EXON Missense_E518K exm413807 4 90856564 [C/G] NM_007351 MMRN1 EXON Missense_T578S exm2082185 4 90856783 [A/C] NM_007351 MMRN1 EXON Missense_P651H exm413817 4 90856821 [A/G] NM_007351 MMRN1 EXON Missense_T664A exm413819 4 90856847 [A/G] NM_007351 MMRN1 EXON Missense_I672M exm413820 4 90856926 [T/C] NM_007351 MMRN1 EXON Missense_H699Y exm413823 4 90856975 [A/G] NM_007351 MMRN1 EXON Missense_R715K exm413831 4 90857143 [T/C] NM_007351 MMRN1 EXON Missense_T771I exm2241447 4 90857244 [A/G] NM_007351 MMRN1 EXON Missense_T805A exm413839 4 90857320 [T/C] NM_007351 MMRN1 EXON Missense_T830I exm413844 4 90857459 [T/A] NM_007351 MMRN1 EXON Nonsense_Y876X exm413847 4 90857479 [A/G] NM_007351 MMRN1 EXON Missense_G883D exm413849 4 90857514 [A/C] NM_007351 MMRN1 EXON Missense_Q895K exm413851 4 90857520 [A/C] NM_007351 MMRN1 EXON Missense_Q897K exm2256782 4 90857546 [A/G] NM_007351 MMRN1 EXON Synonymous_A905A exm413872 4 90857940 [A/G] NM_007351 MMRN1 EXON Missense_I1037V exm413877 4 90872808 [A/G] NM_007351 MMRN1 EXON Missense_I1057M exm413879 4 90872862 [A/C] NM_007351 MMRN1 EXON Missense_N1075K exm413880 4 90872869 [T/A] NM_007351 MMRN1 EXON Missense_I1078F exm413882 4 90872881 [A/G] NM_007351 MMRN1 EXON Missense_E1082K exm413885 4 90874171 [T/C] NM_007351 MMRN1 EXON Missense_Y1097H exm413887 4 90874177 [T/C] NM_007351 MMRN1 EXON Missense_P1099S exm2256783 4 90874311 [A/G] NM_007351 MMRN1 EXON Synonymous_G1143G exm413902 4 90874460 [T/C] NM_007351 MMRN1 EXON Missense_L1193S exm2273395 4 90874879 [T/C] NM_007351 MMRN1 EXON Silent exm2269797 4 91227681 [T/C] NM_001145065,NM_207491 CCSER1,CCSER1 Silent,Silent exm413908 4 91229455 [A/G] NM_001145065,NM_207491 CCSER1,CCSER1 EXON Missense_R7K,Missense_R7K exm413924 4 91229757 [T/C] NM_001145065,NM_207491 CCSER1,CCSER1 EXON Missense_H108Y,Missense_H108Y exm413929 4 91229946 [T/C] NM_001145065,NM_207491 CCSER1,CCSER1 EXON Missense_R171C,Missense_R171C exm413933 4 91230144 [T/C] NM_001145065,NM_207491 CCSER1,CCSER1 EXON Missense_R237W,Missense_R237W exm413943 4 91230448 [T/C] NM_001145065,NM_207491 CCSER1,CCSER1 EXON Missense_P338L,Missense_P338L exm413947 4 91230480 [T/A] NM_001145065,NM_207491 CCSER1,CCSER1 EXON Missense_L349I,Missense_L349I exm413951 4 91230579 [A/G] NM_001145065,NM_207491 CCSER1,CCSER1 EXON Missense_G382S,Missense_G382S exm413955 4 91230693 [T/C] NM_001145065,NM_207491 CCSER1,CCSER1 EXON Missense_P420S,Missense_P420S exm413956 4 91230712 [A/G] NM_001145065,NM_207491 CCSER1,CCSER1 EXON Missense_H426R,Missense_H426R exm2256784 4 91230713 [T/C] NM_001145065,NM_207491 CCSER1,CCSER1 EXON Synonymous_H426H,Synonymous_H426H exm413964 4 91234118 [T/C] NM_001145065,NM_207491 CCSER1,CCSER1 EXON Missense_P477S,Missense_P477S exm2261777 4 91340668 [T/G] NM_001145065,NM_207491 CCSER1,CCSER1 Silent,Silent exm413973 4 91389444 [A/G] NM_001145065,NM_207491 CCSER1,CCSER1 EXON Missense_M555V,Missense_M555V exm413976 4 91549288 [A/C] NM_001145065,NM_207491 CCSER1,CCSER1 EXON Missense_N613H,Missense_N613H exm413979 4 91645066 [A/G] NM_001145065,NM_207491 CCSER1,CCSER1 EXON Missense_S645N,Missense_S645N exm413981 4 91645114 [T/C] NM_001145065,NM_207491 CCSER1,CCSER1 EXON Missense_P661L,Missense_P661L exm2269798 4 91826328 [T/C] NM_001145065 CCSER1 Silent exm414001 4 92007129 [T/C] NM_001145065 CCSER1 EXON Missense_V734A exm2261778 4 92063883 [T/C] NM_001145065 CCSER1 Silent exm414003 4 92519972 [A/G] NM_001145065 CCSER1 EXON Missense_A823T exm2269799 4 92544404 [T/C] exm2261779 4 92696668 [T/C] exm2269800 4 93136797 [T/G] exm414012 4 93225869 [T/C] NM_001510 GRID2 EXON Missense_A21V exm414014 4 93225894 [T/C] NM_001510 GRID2 EXON Synonymous_I29I exm-rs2089990 4 93300188 [A/C] NM_001510 GRID2 Silent exm2265854 4 93479275 [A/G] NM_001510 GRID2 Silent exm414017 4 93511396 [T/C] NM_001510 GRID2 EXON Missense_T68M exm2264059 4 93697153 [A/C] NM_001510 GRID2 Silent exm2256791 4 93998463 [A/G] NM_001510 GRID2 Silent exm414039 4 94031946 [A/G] NM_001510 GRID2 EXON Missense_M193V exm2241456 4 94031983 [A/G] NM_001510 GRID2 EXON Missense_N205S exm2269944 4 94159851 [T/G] NM_001510 GRID2 Silent exm414073 4 94344042 [A/G] NM_001510 GRID2 EXON Missense_V490I exm414074 4 94344046 [T/C] NM_001510 GRID2 EXON Missense_A491V exm414084 4 94377042 [T/C] NM_001510 GRID2 EXON Missense_P592L exm414088 4 94411877 [T/C] NM_001510 GRID2 EXON Missense_T649M exm2082303 4 94411912 [T/A] NM_001510 GRID2 EXON Missense_I661F exm414101 4 94547444 [A/G] NM_001510 GRID2 EXON Missense_V740I exm414114 4 94690587 [A/G] NM_001510 GRID2 EXON Missense_V863I exm2269801 4 94727622 [T/C] exm414139 4 94750491 [C/G] NM_005172 ATOH1 EXON Missense_D138E exm414150 4 94750751 [C/G] NM_005172 ATOH1 EXON Missense_P225R exm414154 4 94750788 [A/C] NM_005172 ATOH1 EXON Missense_H237Q exm414163 4 94750948 [A/G] NM_005172 ATOH1 EXON Missense_A291T exm414170 4 94751070 [T/G] NM_005172 ATOH1 EXON Synonymous_S331S exm2256793 4 94751070 [T/G] NM_005172 ATOH1 EXON Synonymous_S331S exm2265855 4 94761551 [A/G] exm414175 4 95129699 [A/G] NM_001128430,NM_020159,NM_001128429,NR_045644 SMARCAD1,SMARCAD1,SMARCAD1,SMARCAD1 EXON Missense_A52T,Missense_A52T,Missense_A52T,Silent exm-rs11097407 4 95146135 [G/C] NM_001128430,NM_020159,NM_001128429,NR_045644 SMARCAD1,SMARCAD1,SMARCAD1,SMARCAD1 Silent,Silent,Silent,Silent exm414178 4 95147383 [A/G] NM_001128430,NM_020159,NM_001128429,NR_045644 SMARCAD1,SMARCAD1,SMARCAD1,SMARCAD1 EXON Missense_V102I,Missense_V102I,Missense_V102I,Silent exm414179 4 95147402 [A/G] NM_001128430,NM_020159,NM_001128429,NR_045644 SMARCAD1,SMARCAD1,SMARCAD1,SMARCAD1 EXON Missense_N108S,Missense_N108S,Missense_N108S,Silent exm414180 4 95155148 [A/G] NM_001128430,NM_020159,NM_001128429,NR_045644 SMARCAD1,SMARCAD1,SMARCAD1,SMARCAD1 EXON Missense_M138V,Missense_M138V,Missense_M138V,Silent exm414190 4 95170839 [A/G] NM_001128430,NM_020159,NM_001128429,NR_045644 SMARCAD1,SMARCAD1,SMARCAD1,SMARCAD1 EXON Missense_S247N,Missense_S247N,Missense_S247N,Silent exm414195 4 95173779 [T/C] NM_001128430,NM_020159,NM_001128429,NR_045644 SMARCAD1,SMARCAD1,SMARCAD1,SMARCAD1 EXON Missense_V301A,Missense_V301A,Missense_V301A,Silent exm414200 4 95173908 [A/G] NM_001128430,NM_020159,NM_001128429,NR_045644 SMARCAD1,SMARCAD1,SMARCAD1,SMARCAD1 EXON Missense_R344H,Missense_R344H,Missense_R344H,Silent exm414201 4 95173928 [T/C] NM_001128430,NM_020159,NM_001128429,NR_045644 SMARCAD1,SMARCAD1,SMARCAD1,SMARCAD1 EXON Missense_P351S,Missense_P351S,Missense_P351S,Silent exm414224 4 95197608 [T/C] NM_001128430,NM_020159,NM_001128429,NR_045644,NM_001254949 SMARCAD1,SMARCAD1,SMARCAD1,SMARCAD1,SMARCAD1 EXON Missense_H643Y,Missense_H643Y,Missense_H643Y,Silent,Missense_H213Y exm414225 4 95197625 [T/C] NM_001128430,NM_020159,NM_001128429,NR_045644,NM_001254949 SMARCAD1,SMARCAD1,SMARCAD1,SMARCAD1,SMARCAD1 EXON Synonymous_N648N,Synonymous_N648N,Synonymous_N648N,Silent,Synonymous_N218N exm414230 4 95199785 [G/C] NM_001128430,NM_020159,NM_001128429,NR_045644,NM_001254949 SMARCAD1,SMARCAD1,SMARCAD1,SMARCAD1,SMARCAD1 EXON Missense_P733A,Missense_P733A,Missense_P733A,Silent,Missense_P303A exm414233 4 95199855 [A/G] NM_001128430,NM_020159,NM_001128429,NR_045644,NM_001254949 SMARCAD1,SMARCAD1,SMARCAD1,SMARCAD1,SMARCAD1 EXON Missense_N756S,Missense_N756S,Missense_N756S,Silent,Missense_N326S exm414240 4 95201837 [A/G] NM_001128430,NM_020159,NM_001128429,NR_045644,NM_001254949 SMARCAD1,SMARCAD1,SMARCAD1,SMARCAD1,SMARCAD1 EXON Missense_R840Q,Missense_R838Q,Missense_R840Q,Silent,Missense_R408Q exm414242 4 95201863 [A/G] NM_001128430,NM_020159,NM_001128429,NR_045644,NM_001254949 SMARCAD1,SMARCAD1,SMARCAD1,SMARCAD1,SMARCAD1 EXON Missense_M849V,Missense_M847V,Missense_M849V,Silent,Missense_M417V exm414250 4 95204450 [A/G] NM_001128430,NM_020159,NM_001128429,NR_045644,NM_001254949 SMARCAD1,SMARCAD1,SMARCAD1,SMARCAD1,SMARCAD1 EXON Missense_T971A,Missense_T969A,Missense_T971A,Silent,Missense_T539A exm414259 4 95220672 [T/C] NM_014485 HPGDS EXON Missense_V187I exm2274037 4 95220699 [A/G] NM_014485 HPGDS EXON Missense_R178W exm414267 4 95220779 [A/G] NM_014485 HPGDS EXON Missense_F151S exm414271 4 95223325 [G/C] NM_014485 HPGDS EXON Missense_G136A exm414272 4 95223349 [A/G] NM_014485 HPGDS EXON Missense_M128T exm414273 4 95223358 [C/G] NM_014485 HPGDS EXON Missense_P125R exm414278 4 95229787 [T/C] NM_014485 HPGDS EXON Missense_K112E exm414279 4 95229793 [T/C] NM_014485 HPGDS EXON Missense_D110N exm414285 4 95229850 [T/C] NM_014485 HPGDS EXON Missense_I91V exm2269802 4 95290250 [T/C] exm414298 4 95376504 [A/G] NR_046186,NM_001011516,NM_001011513,NM_001011515,NM_001256428,NM_001256429,NM_001256427,NM_006457,NM_001256425,NM_001256426 PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5 EXON Silent,Missense_K22R,Missense_K22R,Missense_K22R,Silent,Missense_K22R,Missense_K22R,Missense_K22R,Silent,Missense_K22R exm2265856 4 95444255 [A/G] NM_001011516,NM_001011513,NM_001011515,NM_001256428,NM_001256427,NM_006457,NM_001256425,NM_001256426 PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm414304 4 95444963 [A/C] NM_001011516,NM_001011513,NM_001011515,NM_001256428,NM_001256427,NM_006457,NM_001256425,NM_001256426 PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5 EXON Missense_T62N,Missense_T62N,Missense_T62N,Silent,Missense_T62N,Missense_T62N,Silent,Missense_T62N exm414311 4 95494528 [T/C] NM_001011516,NM_001011513,NM_001011515,NM_001256428,NM_001256427,NM_006457,NM_001256425,NM_001256426 PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5 EXON Missense_P92L,Missense_P92L,Missense_P92L,Silent,Missense_P92L,Missense_P92L,Silent,Missense_P92L exm414316 4 95496882 [T/C] NM_001011516,NM_001011513,NM_001011515,NM_001256428,NM_001256427,NM_006457,NM_001256425,NM_001256426 PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5 EXON Silent,Silent,Silent,Missense_S14F,Silent,Missense_S136F,Silent,Silent exm414320 4 95496927 [T/C] NM_001011516,NM_001011513,NM_001011515,NM_001256428,NM_001256427,NM_006457,NM_001256425,NM_001256426 PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5 EXON Silent,Silent,Silent,Missense_T29I,Silent,Missense_T151I,Silent,Silent exm414338 4 95506741 [T/C] NM_001011516,NM_001011513,NM_001011515,NM_001256428,NM_001256427,NM_006457,NM_001256425,NM_001256426 PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5 EXON Missense_R123C,Missense_R137C,Missense_R143C,Missense_R124C,Missense_R143C,Missense_R246C,Silent,Missense_R143C exm-rs12500426 4 95514609 [A/C] NM_001011513,NM_001256428,NM_001256427,NM_006457,NM_001256425,NM_001256426 PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5 Silent,Silent,Silent,Silent,Silent,Silent exm414360 4 95539204 [T/C] NM_001011513,NM_001256428,NM_001256427,NM_006457,NM_001256425,NM_001256426 PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5 EXON Missense_R215W,Missense_R202W,Missense_R221W,Missense_R324W,Silent,Missense_R353W exm414362 4 95539267 [A/G] NM_001011513,NM_001256428,NM_001256427,NM_006457,NM_001256425,NM_001256426 PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5 EXON Missense_A236T,Missense_A223T,Missense_A242T,Missense_A345T,Missense_A20T,Missense_A374T exm414369 4 95561459 [A/G] NM_001011513,NM_001256428,NM_001256427,NM_006457,NM_001256425,NM_001256426 PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5 EXON Missense_T272A,Missense_T259A,Missense_T278A,Missense_T381A,Missense_T56A,Missense_T410A exm414370 4 95561480 [T/C] NM_001011513,NM_001256428,NM_001256427,NM_006457,NM_001256425,NM_001256426 PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5 EXON Missense_P279S,Missense_P266S,Missense_P285S,Missense_P388S,Missense_P63S,Missense_P417S exm-rs17021918 4 95562877 [T/C] NM_001011513,NM_001256428,NM_001256427,NM_006457,NM_001256425,NM_001256426 PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5 Silent,Silent,Silent,Silent,Silent,Silent exm414382 4 95575661 [A/G] NM_001011513,NM_001256428,NM_001256427,NM_006457,NM_001256425,NM_001256426 PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5 EXON Missense_N336S,Missense_N323S,Missense_N342S,Missense_N445S,Missense_N120S,Missense_N474S exm414389 4 95578584 [A/G] NM_001011513,NM_001256428,NM_001256427,NM_006457,NM_001256425,NM_001256426 PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5 EXON Missense_I382V,Missense_I369V,Missense_I388V,Missense_I491V,Missense_I166V,Missense_I520V exm414390 4 95578588 [A/G] NM_001011513,NM_001256428,NM_001256427,NM_006457,NM_001256425,NM_001256426 PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5 EXON Missense_S383N,Missense_S370N,Missense_S389N,Missense_S492N,Missense_S167N,Missense_S521N exm414391 4 95578650 [T/C] NM_001011513,NM_001256428,NM_001256427,NM_006457,NM_001256425,NM_001256426 PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5 EXON Missense_R404W,Missense_R391W,Missense_R410W,Missense_R513W,Missense_R188W,Missense_R542W exm414397 4 95583657 [A/G] NM_001011513,NM_001256428,NM_001256427,NM_006457,NM_001256425,NM_001256426 PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5 EXON Missense_Y448C,Missense_Y435C,Missense_Y454C,Missense_Y557C,Missense_Y232C,Missense_Y586C exm414398 4 95585154 [A/G] NM_001011513,NM_001256428,NM_001256427,NM_006457,NM_001256425,NM_001256426 PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5 EXON Missense_Q467R,Missense_Q454R,Missense_Q473R,Missense_Q576R,Missense_Q251R,Missense_Q605R exm414402 4 95585202 [A/G] NM_001011513,NM_001256428,NM_001256427,NM_006457,NM_001256425,NM_001256426 PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5 EXON Missense_H483R,Missense_H470R,Silent,Missense_H592R,Missense_H267R,Missense_H621R exm2265733 4 95644727 [A/G] exm-rs1859156 4 95834034 [T/G] NM_001203 BMPR1B Silent exm414404 4 96025586 [A/G] NM_001203,NM_001256792,NM_001256793,NM_001256794 BMPR1B,BMPR1B,BMPR1B,BMPR1B EXON Missense_R4Q,Missense_R4Q,Missense_R34Q,Missense_R4Q exm414406 4 96025591 [A/G] NM_001203,NM_001256792,NM_001256793,NM_001256794 BMPR1B,BMPR1B,BMPR1B,BMPR1B EXON Missense_A6T,Missense_A6T,Missense_A36T,Missense_A6T exm414409 4 96025649 [G/C] NM_001203,NM_001256792,NM_001256793,NM_001256794 BMPR1B,BMPR1B,BMPR1B,BMPR1B EXON Missense_P25R,Missense_P25R,Missense_P55R,Missense_P25R exm414412 4 96035956 [T/G] NM_001203,NM_001256792,NM_001256793,NM_001256794 BMPR1B,BMPR1B,BMPR1B,BMPR1B EXON Missense_S77A,Missense_S77A,Missense_S107A,Missense_S77A exm414424 4 96045029 [A/G] NM_001203,NM_001256792,NM_001256793,NM_001256794 BMPR1B,BMPR1B,BMPR1B,BMPR1B EXON Missense_V140I,Missense_V140I,Missense_V170I,Missense_V140I exm414430 4 96046210 [T/C] NM_001203,NM_001256792,NM_001256793,NM_001256794 BMPR1B,BMPR1B,BMPR1B,BMPR1B EXON Missense_S175P,Missense_S175P,Missense_S205P,Missense_S175P exm414436 4 96051098 [A/G] NM_001203,NM_001256792,NM_001256793,NM_001256794 BMPR1B,BMPR1B,BMPR1B,BMPR1B EXON Missense_R224H,Missense_R224H,Missense_R254H,Missense_R224H exm2241467 4 96051106 [A/C] NM_001203,NM_001256792,NM_001256793,NM_001256794 BMPR1B,BMPR1B,BMPR1B,BMPR1B EXON Missense_K227Q,Missense_K227Q,Missense_K257Q,Missense_K227Q exm414441 4 96051172 [C/G] NM_001203,NM_001256792,NM_001256793,NM_001256794 BMPR1B,BMPR1B,BMPR1B,BMPR1B EXON Missense_Q249E,Missense_Q249E,Missense_Q279E,Missense_Q249E exm414443 4 96051196 [A/G] NM_001203,NM_001256792,NM_001256793,NM_001256794 BMPR1B,BMPR1B,BMPR1B,BMPR1B EXON Missense_N257D,Missense_N257D,Missense_N287D,Missense_N257D exm414447 4 96052488 [A/G] NM_001203,NM_001256792,NM_001256793,NM_001256794 BMPR1B,BMPR1B,BMPR1B,BMPR1B EXON Missense_M301V,Missense_M301V,Missense_M331V,Missense_M301V exm414450 4 96052566 [A/G] NM_001203,NM_001256792,NM_001256793,NM_001256794 BMPR1B,BMPR1B,BMPR1B,BMPR1B EXON Missense_A327T,Missense_A327T,Missense_A357T,Missense_A327T exm414458 4 96069934 [A/G] NM_001203,NM_001256792,NM_001256793,NM_001256794 BMPR1B,BMPR1B,BMPR1B,BMPR1B EXON Missense_R371Q,Missense_R371Q,Missense_R401Q,Missense_R371Q exm2273396 4 96075965 [T/C] NM_001203,NM_001256792,NM_001256793,NM_001256794 BMPR1B,BMPR1B,BMPR1B,BMPR1B EXON Silent,Silent,Silent,Silent exm414485 4 96091324 [A/G] NM_003728 UNC5C EXON Missense_H871Y exm414489 4 96091414 [T/C] NM_003728 UNC5C EXON Missense_A841T exm414493 4 96091431 [A/G] NM_003728 UNC5C EXON Missense_T835M exm414494 4 96091434 [A/G] NM_003728 UNC5C EXON Missense_T834I exm2256801 4 96104051 [T/C] NM_003728 UNC5C EXON Synonymous_S816S exm414507 4 96106244 [T/C] NM_003728 UNC5C EXON Missense_D747G exm414508 4 96106245 [T/C] NM_003728 UNC5C EXON Missense_D747N exm414509 4 96106259 [T/C] NM_003728 UNC5C EXON Missense_R742H exm414510 4 96106321 [T/C] NM_003728 UNC5C EXON Missense_M721I exm414511 4 96106322 [A/G] NM_003728 UNC5C EXON Missense_M721T exm414513 4 96123953 [G/C] NM_003728 UNC5C EXON Missense_P689A exm414519 4 96124016 [T/C] NM_003728 UNC5C EXON Missense_A668T exm414532 4 96127798 [T/G] NM_003728 UNC5C EXON Missense_A628E exm414533 4 96127799 [T/C] NM_003728 UNC5C EXON Missense_A628T exm414548 4 96140171 [T/C] NM_003728 UNC5C EXON Missense_A532T exm414554 4 96140365 [T/C] NM_003728 UNC5C EXON Missense_N467S exm-rs12643654 4 96159817 [A/G] NM_003728 UNC5C Silent exm414569 4 96163629 [T/G] NM_003728 UNC5C EXON Missense_D353E exm414570 4 96163631 [T/C] NM_003728 UNC5C EXON Missense_D353N exm414574 4 96166139 [A/G] NM_003728 UNC5C EXON Missense_T311M exm414576 4 96166223 [T/C] NM_003728 UNC5C EXON Missense_R283H exm414580 4 96171659 [T/G] NM_003728 UNC5C EXON Missense_T252P exm414599 4 96256562 [A/G] NM_003728 UNC5C EXON Synonymous_S115S exm2256802 4 96256571 [A/G] NM_003728 UNC5C EXON Synonymous_D112D exm414601 4 96256588 [G/C] NM_003728 UNC5C EXON Missense_V107L exm2256803 4 96379903 [T/C] NM_003728 UNC5C Silent exm2265734 4 96532925 [A/G] exm2265857 4 96597286 [A/G] exm414621 4 96761323 [T/C] NM_005390 PDHA2 EXON Missense_R8C exm414622 4 96761324 [A/G] NM_005390 PDHA2 EXON Missense_R8H exm414625 4 96761363 [A/T] NM_005390 PDHA2 EXON Missense_V21E exm414631 4 96761533 [T/C] NM_005390 PDHA2 EXON Nonsense_Q78X exm414632 4 96761547 [T/G] NM_005390 PDHA2 EXON Missense_Q82H exm414634 4 96761602 [C/G] NM_005390 PDHA2 EXON Missense_G101R exm414642 4 96761777 [A/G] NM_005390 PDHA2 EXON Missense_Y159C exm414650 4 96761881 [T/G] NM_005390 PDHA2 EXON Missense_D194Y exm2082667 4 96762012 [C/G] NM_005390 PDHA2 EXON Missense_S237R exm414664 4 96762126 [C/G] NM_005390 PDHA2 EXON Missense_K275N exm414666 4 96762158 [G/C] NM_005390 PDHA2 EXON Missense_R286P exm414667 4 96762167 [G/C] NM_005390 PDHA2 EXON Missense_G289A exm414680 4 96762370 [T/C] NM_005390 PDHA2 EXON Missense_P357S exm414683 4 96762427 [C/G] NM_005390 PDHA2 EXON Missense_R376G exm2256804 4 96762459 [T/C] NM_005390 PDHA2 EXON Synonymous_S386S exm2265735 4 97215545 [A/G] exm2269945 4 97644876 [T/C] exm2256807 4 97828056 [T/C] exm2269805 4 98228716 [T/C] exm2269946 4 98333918 [T/C] exm414687 4 98480255 [T/C] NM_174952 STPG2 EXON Missense_K445R exm2265736 4 98596032 [A/G] NM_174952 STPG2 Silent exm2082745 4 98633897 [A/G] NM_174952 STPG2 EXON Missense_R425C exm414695 4 98633962 [A/G] NM_174952 STPG2 EXON Missense_P403L exm414702 4 98761954 [A/G] NM_174952 STPG2 EXON Missense_R392W exm414707 4 98762004 [T/C] NM_174952 STPG2 EXON Missense_R375H exm2082749 4 98762005 [A/G] NM_174952 STPG2 EXON Missense_R375C exm414715 4 98865047 [T/C] NM_174952 STPG2 Silent exm414721 4 98893489 [T/C] NM_174952 STPG2 EXON Missense_R292Q exm2256809 4 98902410 [A/C] NM_174952 STPG2 EXON Synonymous_T224T exm414735 4 99027141 [T/C] NM_174952 STPG2 EXON Missense_R192Q exm414738 4 99027159 [T/C] NM_174952 STPG2 EXON Missense_Y186C exm414739 4 99027184 [T/C] NM_174952 STPG2 EXON Missense_I178V exm414745 4 99030413 [T/C] NM_174952 STPG2 EXON Missense_G144D exm-rs7664169 4 99037859 [A/G] NM_174952 STPG2 Silent exm414749 4 99049593 [A/G] NM_174952 STPG2 EXON Missense_Y125H exm414758 4 99055502 [A/G] NM_174952 STPG2 EXON Missense_A73V exm414759 4 99055517 [T/C] NM_174952 STPG2 EXON Missense_Y68C exm414767 4 99064283 [A/G] NM_174952 STPG2 EXON Missense_R7C exm2264060 4 99076132 [A/C] exm414779 4 99273704 [A/G] NM_001100430,NM_001100427,NM_021159,NM_001100426,NM_001100428,NM_001100429 RAP1GDS1,RAP1GDS1,RAP1GDS1,RAP1GDS1,RAP1GDS1,RAP1GDS1 EXON Missense_V106M,Missense_V105M,Missense_V106M,Missense_V106M,Missense_V106M,Missense_V105M exm414787 4 99300260 [A/G] NM_001100430,NM_001100427,NM_021159,NM_001100426,NM_001100428,NM_001100429 RAP1GDS1,RAP1GDS1,RAP1GDS1,RAP1GDS1,RAP1GDS1,RAP1GDS1 EXON Silent,Missense_E152K,Missense_E153K,Missense_E153K,Silent,Silent exm-rs10516430 4 99337881 [T/C] NM_001100430,NM_001100427,NM_021159,NM_001100426,NM_001100428,NM_001100429 RAP1GDS1,RAP1GDS1,RAP1GDS1,RAP1GDS1,RAP1GDS1,RAP1GDS1 Silent,Silent,Silent,Silent,Silent,Silent exm414800 4 99337994 [C/G] NM_001100430,NM_001100427,NM_021159,NM_001100426,NM_001100428,NM_001100429 RAP1GDS1,RAP1GDS1,RAP1GDS1,RAP1GDS1,RAP1GDS1,RAP1GDS1 EXON Missense_E197Q,Missense_E288Q,Missense_E289Q,Missense_E289Q,Missense_E240Q,Missense_E239Q exm414802 4 99338519 [T/C] NM_001100430,NM_001100427,NM_021159,NM_001100426,NM_001100428,NM_001100429 RAP1GDS1,RAP1GDS1,RAP1GDS1,RAP1GDS1,RAP1GDS1,RAP1GDS1 EXON Synonymous_D212D,Synonymous_D303D,Synonymous_D304D,Synonymous_D304D,Synonymous_D255D,Synonymous_D254D exm2256811 4 99338549 [A/G] NM_001100430,NM_001100427,NM_021159,NM_001100426,NM_001100428,NM_001100429 RAP1GDS1,RAP1GDS1,RAP1GDS1,RAP1GDS1,RAP1GDS1,RAP1GDS1 EXON Synonymous_G222G,Synonymous_G313G,Synonymous_G314G,Synonymous_G314G,Synonymous_G265G,Synonymous_G264G exm414809 4 99339835 [A/G] NM_001100430,NM_001100427,NM_021159,NM_001100426,NM_001100428,NM_001100429 RAP1GDS1,RAP1GDS1,RAP1GDS1,RAP1GDS1,RAP1GDS1,RAP1GDS1 EXON Missense_N265S,Missense_N356S,Missense_N357S,Missense_N357S,Missense_N308S,Missense_N307S exm414811 4 99339856 [T/C] NM_001100430,NM_001100427,NM_021159,NM_001100426,NM_001100428,NM_001100429 RAP1GDS1,RAP1GDS1,RAP1GDS1,RAP1GDS1,RAP1GDS1,RAP1GDS1 EXON Missense_M272T,Missense_M363T,Missense_M364T,Missense_M364T,Missense_M315T,Missense_M314T exm414828 4 99363155 [G/C] NM_001100430,NM_001100427,NM_021159,NM_001100426,NM_001100428,NM_001100429 RAP1GDS1,RAP1GDS1,RAP1GDS1,RAP1GDS1,RAP1GDS1,RAP1GDS1 EXON Missense_E480Q,Missense_E571Q,Missense_E571Q,Missense_E572Q,Missense_E523Q,Missense_E522Q exm414829 4 99363184 [T/C] NM_001100430,NM_001100427,NM_021159,NM_001100426,NM_001100428,NM_001100429 RAP1GDS1,RAP1GDS1,RAP1GDS1,RAP1GDS1,RAP1GDS1,RAP1GDS1 EXON Synonymous_V489V,Synonymous_V580V,Synonymous_V580V,Synonymous_V581V,Synonymous_V532V,Synonymous_V531V exm2256812 4 99363184 [T/C] NM_001100430,NM_001100427,NM_021159,NM_001100426,NM_001100428,NM_001100429 RAP1GDS1,RAP1GDS1,RAP1GDS1,RAP1GDS1,RAP1GDS1,RAP1GDS1 EXON Synonymous_V489V,Synonymous_V580V,Synonymous_V580V,Synonymous_V581V,Synonymous_V532V,Synonymous_V531V exm414830 4 99363185 [A/G] NM_001100430,NM_001100427,NM_021159,NM_001100426,NM_001100428,NM_001100429 RAP1GDS1,RAP1GDS1,RAP1GDS1,RAP1GDS1,RAP1GDS1,RAP1GDS1 EXON Missense_V490I,Missense_V581I,Missense_V581I,Missense_V582I,Missense_V533I,Missense_V532I exm2269947 4 99403784 [T/G] NM_005723 TSPAN5 Silent exm2256814 4 99478756 [T/C] NM_005723 TSPAN5 Silent exm414899 4 99966351 [A/G] NM_015143 METAP1 EXON Missense_N226S exm414905 4 99978930 [A/T] NM_015143 METAP1 EXON Missense_S320T exm414908 4 99982306 [T/C] NM_015143 METAP1 EXON Synonymous_G333G exm-rs2602836 4 100014805 [A/G] NR_037884 LOC100507053 Silent exm414947 4 100045616 [T/C] NR_037884,NM_000670 LOC100507053,ADH4 EXON Silent,Missense_V374I exm414957 4 100048386 [T/C] NR_037884,NM_000670 LOC100507053,ADH4 EXON Silent,Missense_R318H exm414969 4 100052818 [A/C] NR_037884,NM_000670 LOC100507053,ADH4 EXON Silent,Missense_G227V exm2240223 4 100057618 [T/G] NR_037884,NM_000670 LOC100507053,ADH4 EXON Silent,Missense_K194T exm414971 4 100057727 [A/C] NR_037884,NM_000670 LOC100507053,ADH4 EXON Silent,Missense_V158L exm414981 4 100060273 [A/G] NR_037884,NM_000670 LOC100507053,ADH4 EXON Silent,Missense_P97S exm414987 4 100062721 [A/G] NR_037884,NM_000670 LOC100507053,ADH4 EXON Silent,Missense_I78T exm414991 4 100062814 [T/C] NR_037884,NM_000670 LOC100507053,ADH4 EXON Silent,Missense_C47Y exm414994 4 100063853 [T/C] NR_037884,NM_000670 LOC100507053,ADH4 EXON Silent,Missense_K33E exm414997 4 100063901 [T/C] NR_037884,NM_000670 LOC100507053,ADH4 EXON Silent,Missense_E17K exm2256238 4 100066332 [T/C] NR_037884 LOC100507053 Silent exm415006 4 100126106 [A/G] NR_037884,NM_001102470,NM_000672 LOC100507053,ADH6,ADH6 EXON Silent,Missense_V360A,Missense_V360A exm415013 4 100128726 [T/C] NR_037884,NM_001102470,NM_000672 LOC100507053,ADH6,ADH6 EXON Silent,Missense_A281T,Missense_A281T exm415025 4 100130004 [T/C] NR_037884,NM_001102470,NM_000672 LOC100507053,ADH6,ADH6 EXON Silent,Missense_A217T,Missense_A217T exm415036 4 100131291 [A/C] NR_037884,NM_001102470,NM_000672 LOC100507053,ADH6,ADH6 EXON Silent,Missense_L172R,Missense_L172R exm415037 4 100131313 [T/C] NR_037884,NM_001102470,NM_000672 LOC100507053,ADH6,ADH6 EXON Silent,Missense_A165T,Missense_A165T exm2240224 4 100131331 [T/C] NR_037884,NM_001102470,NM_000672 LOC100507053,ADH6,ADH6 EXON Silent,Missense_A159T,Missense_A159T exm415039 4 100131444 [A/G] NR_037884,NM_001102470,NM_000672 LOC100507053,ADH6,ADH6 EXON Silent,Missense_T121I,Missense_T121I exm415041 4 100131582 [T/C] NR_037884,NM_001102470,NM_000672 LOC100507053,ADH6,ADH6 EXON Silent,Missense_I114V,Missense_I114V exm415042 4 100131611 [A/G] NR_037884,NM_001102470,NM_000672 LOC100507053,ADH6,ADH6 EXON Silent,Missense_S104F,Missense_S104F exm2062381 4 100131618 [A/C] NR_037884,NM_001102470,NM_000672 LOC100507053,ADH6,ADH6 EXON Silent,Missense_C102G,Missense_C102G exm415045 4 100134792 [A/G] NR_037884,NM_001102470,NM_000672 LOC100507053,ADH6,ADH6 EXON Silent,Missense_I78T,Missense_I78T exm415066 4 100140306 [A/T] NR_037884,NM_001102470,NM_000672 LOC100507053,ADH6,ADH6 EXON Silent,Missense_C2S,Missense_C2S exm2256239 4 100203665 [T/C] NR_037884,NM_000667 LOC100507053,ADH1A EXON Silent,Synonymous_A222A exm415104 4 100205641 [A/G] NR_037884,NM_000667 LOC100507053,ADH1A EXON Silent,Missense_I161T exm415113 4 100205872 [C/G] NR_037884,NM_000667 LOC100507053,ADH1A Silent,Silent exm415134 4 100229016 [T/C] NM_000668 ADH1B EXON Missense_R370H exm415135 4 100229017 [A/G] NM_000668 ADH1B EXON Missense_R370C exm415136 4 100229021 [A/C] NM_000668 ADH1B EXON Missense_S368R exm415144 4 100232704 [T/C] NM_000668 ADH1B EXON Missense_R313H exm415150 4 100232773 [T/C] NM_000668 ADH1B EXON Missense_S290N exm415183 4 100239268 [A/G] NM_000668 ADH1B EXON Missense_I65T exm415185 4 100239284 [T/A] NM_000668 ADH1B EXON Missense_T60S exm415186 4 100239319 [T/C] NM_000668 ADH1B EXON Missense_H48R exm-rs1789891 4 100250419 [A/C] exm415207 4 100260783 [T/G] NM_000669 ADH1C EXON Missense_P352T exm415208 4 100260789 [T/C] NM_000669 ADH1C EXON Missense_I350V exm415219 4 100263965 [T/C] NM_000669 ADH1C EXON Missense_R272Q exm415227 4 100264209 [T/A] NM_000669 ADH1C EXON Missense_T191S exm415235 4 100266162 [T/C] NM_000669 ADH1C EXON Missense_V142I exm415237 4 100266171 [A/G] NM_000669 ADH1C EXON Missense_H139Y exm415247 4 100268258 [T/C] NM_000669 ADH1C EXON Missense_S55N exm415249 4 100268279 [T/C] NM_000669 ADH1C EXON Missense_R48H exm-rs1789924 4 100274286 [T/C] exm-rs991316 4 100322445 [T/C] exm415261 4 100336659 [A/G] NM_000673,NM_001166504 ADH7,ADH7 EXON Missense_F371S,Missense_F379S exm415262 4 100336690 [T/C] NM_000673,NM_001166504 ADH7,ADH7 EXON Missense_V361I,Missense_V369I exm2062462 4 100336769 [C/G] NM_000673,NM_001166504 ADH7,ADH7 EXON Missense_L334F,Missense_L342F exm415264 4 100336773 [A/C] NM_000673,NM_001166504 ADH7,ADH7 EXON Missense_G333V,Missense_G341V exm415268 4 100340190 [T/G] NM_000673,NM_001166504 ADH7,ADH7 EXON Missense_P317Q,Missense_P325Q exm415270 4 100340272 [A/C] NM_000673,NM_001166504 ADH7,ADH7 EXON Missense_A290S,Missense_A298S exm415280 4 100341818 [T/C] NM_000673,NM_001166504 ADH7,ADH7 EXON Missense_M245V,Missense_M253V exm415283 4 100341839 [T/C] NM_000673,NM_001166504 ADH7,ADH7 EXON Missense_K238E,Missense_K246E exm-rs971074 4 100341861 [T/C] NM_000673,NM_001166504 ADH7,ADH7 EXON Synonymous_R230R,Synonymous_R238R exm2062476 4 100349003 [C/G] NM_000673,NM_001166504 ADH7,ADH7 EXON Missense_A176G,Missense_A184G exm415299 4 100349135 [T/C] NM_000673,NM_001166504 ADH7,ADH7 EXON Missense_R132H,Missense_R140H exm415306 4 100349669 [C/G] NM_000673,NM_001166504 ADH7,ADH7 EXON Missense_G92A,Missense_G100A exm415313 4 100350696 [T/C] NM_000673,NM_001166504 ADH7,ADH7 EXON Missense_R50H,Missense_R58H exm2062481 4 100356377 [A/C] NM_000673 ADH7 EXON Missense_G17V exm2062482 4 100356378 [A/C] NM_000673 ADH7 EXON Nonsense_G17X exm415324 4 100356411 [A/G] NM_000673 ADH7 EXON Nonsense_Q6X exm415325 4 100356425 [A/G] NM_000673 ADH7 EXON Missense_M1T exm415331 4 100434303 [A/G] NM_032149 C4orf17 EXON Missense_R22K exm415335 4 100443720 [A/G] NM_032149 C4orf17 EXON Missense_G64E exm415336 4 100443726 [A/G] NM_032149 C4orf17 EXON Missense_G66D exm415338 4 100443744 [A/G] NM_032149 C4orf17 EXON Missense_E72G exm415342 4 100443782 [T/C] NM_032149 C4orf17 EXON Missense_S85P exm415344 4 100443800 [A/G] NM_032149 C4orf17 EXON Missense_E91K exm415346 4 100443828 [A/C] NM_032149 C4orf17 EXON Missense_A100D exm2261570 4 100444178 [T/C] NM_032149 C4orf17 Silent exm415362 4 100451051 [A/G] NM_032149 C4orf17 EXON Missense_S161N exm415367 4 100458862 [T/C] NM_032149 C4orf17 EXON Missense_S195P exm415373 4 100460524 [T/C] NM_032149 C4orf17 EXON Missense_T278I exm415377 4 100463165 [A/G] NM_032149 C4orf17 EXON Missense_T327A exm415378 4 100463237 [A/G] NM_032149 C4orf17 EXON Missense_A351T exm415380 4 100463258 [T/C] NM_032149 C4orf17 EXON Missense_R358W exm415385 4 100470310 [T/G] NM_001134666,NM_001134665,NM_152292 TRMT10A,TRMT10A,TRMT10A EXON Missense_P319T,Missense_P319T,Missense_P319T exm415399 4 100472128 [A/G] NM_001134666,NM_001134665,NM_152292 TRMT10A,TRMT10A,TRMT10A EXON Missense_A222V,Missense_A222V,Missense_A222V exm415404 4 100475092 [T/C] NM_001134666,NM_001134665,NM_152292 TRMT10A,TRMT10A,TRMT10A Silent,Silent,Silent exm415408 4 100478524 [T/C] NM_001134666,NM_001134665,NM_152292 TRMT10A,TRMT10A,TRMT10A EXON Missense_R133Q,Missense_R133Q,Missense_R133Q exm415409 4 100478534 [T/C] NM_001134666,NM_001134665,NM_152292 TRMT10A,TRMT10A,TRMT10A EXON Missense_A130T,Missense_A130T,Missense_A130T exm415417 4 100479348 [T/C] NM_001134666,NM_001134665,NM_152292 TRMT10A,TRMT10A,TRMT10A EXON Missense_R69H,Missense_R69H,Missense_R69H exm415423 4 100480417 [A/C] NM_001134666,NM_001134665,NM_152292 TRMT10A,TRMT10A,TRMT10A EXON Nonsense_E27X,Nonsense_E27X,Nonsense_E27X exm415433 4 100503146 [A/G] NM_000253 MTTP EXON Missense_G49E exm415434 4 100503159 [A/C] NM_000253 MTTP EXON Missense_D53E exm415435 4 100503173 [A/G] NM_000253 MTTP EXON Missense_R58H exm415442 4 100504566 [G/C] NM_000253 MTTP EXON Missense_Q95H exm415443 4 100504575 [G/C] NM_000253 MTTP EXON Missense_E98D exm415447 4 100504664 [T/C] NM_000253 MTTP EXON Missense_I128T exm415451 4 100510825 [A/G] NM_000253 MTTP EXON Missense_N140S exm415456 4 100510903 [A/G] NM_000253 MTTP EXON Missense_N166S exm415458 4 100512392 [A/G] NM_000253 MTTP EXON Missense_V168I exm415461 4 100512442 [A/T] NM_000253 MTTP EXON Missense_K184N exm415478 4 100516022 [G/C] NM_000253 MTTP EXON Missense_H297Q exm415493 4 100521805 [A/C] NM_000253 MTTP EXON Missense_D384A exm415494 4 100521865 [A/G] NM_000253 MTTP EXON Missense_N404S exm415521 4 100532497 [T/C] NM_000253 MTTP EXON Missense_R626C exm415528 4 100532602 [A/G] NM_000253 MTTP EXON Missense_G661S exm415530 4 100532606 [C/G] NM_000253 MTTP EXON Missense_S662T exm415535 4 100534224 [C/G] NM_000253 MTTP EXON Missense_S715C exm415546 4 100542308 [C/G] NM_000253 MTTP EXON Missense_L811F exm415557 4 100543956 [A/G] NM_000253 MTTP EXON Missense_K879R exm415558 4 100543977 [T/C] NM_000253 MTTP EXON Missense_P886L exm415565 4 100756808 [A/G] NM_014395 DAPP1 EXON Missense_A44T exm2256242 4 100789312 [A/G] NM_014395 DAPP1 EXON Synonymous_T271T exm415590 4 100805273 [A/G] NM_001243736,NM_021970,NR_024170 LAMTOR3,LAMTOR3,LAMTOR3 EXON Missense_F76L,Missense_F83L,Silent exm415595 4 100806820 [T/C] NM_001243736,NM_021970,NR_024170 LAMTOR3,LAMTOR3,LAMTOR3 EXON Silent,Missense_N39S,Silent exm2062586 4 100826754 [A/G] NM_001031723 DNAJB14 EXON Missense_S281F exm415611 4 100826784 [A/G] NM_001031723 DNAJB14 EXON Missense_S271F exm415629 4 100844226 [T/C] NM_001031723 DNAJB14 EXON Missense_H141R exm2240240 4 100869244 [A/G] NM_002106 H2AFZ EXON Silent exm2264061 4 101108057 [A/C] NM_145244 DDIT4L EXON Silent exm-IND4-101327898 4 101108876 [I/D] NM_145244 DDIT4L EXON exm415684 4 101108877 [T/C] NM_145244 DDIT4L EXON Missense_K180R exm415687 4 101108934 [A/G] NM_145244 DDIT4L EXON Missense_S161F exm415690 4 101108978 [T/C] NM_145244 DDIT4L EXON Synonymous_S146S exm2256244 4 101108978 [T/C] NM_145244 DDIT4L EXON Synonymous_S146S exm2062633 4 101108992 [A/G] NM_145244 DDIT4L EXON Nonsense_Q142X exm415691 4 101109025 [T/C] NM_145244 DDIT4L EXON Missense_V131I exm415693 4 101109088 [T/C] NM_145244 DDIT4L EXON Missense_V110M exm415709 4 101111068 [A/G] NM_145244 DDIT4L EXON Missense_P25S exm415712 4 101331507 [A/G] NM_016242,NM_001159694 EMCN,EMCN EXON Missense_H253Y,Missense_H240Y exm415716 4 101337079 [T/C] NM_016242,NM_001159694 EMCN,EMCN EXON Missense_V243I,Missense_V230I exm2265858 4 101353122 [A/G] NM_016242,NM_001159694 EMCN,EMCN Silent,Silent exm415739 4 101368728 [T/G] NM_016242,NM_001159694 EMCN,EMCN EXON Missense_T126N,Silent exm415743 4 101386615 [T/G] NM_016242,NM_001159694 EMCN,EMCN EXON Missense_N114T,Missense_N114T exm415744 4 101386643 [T/C] NM_016242,NM_001159694 EMCN,EMCN EXON Missense_V105I,Missense_V105I exm415746 4 101386657 [A/G] NM_016242,NM_001159694 EMCN,EMCN EXON Missense_S100F,Missense_S100F exm2269808 4 101642607 [T/C] exm-rs1405687 4 101931826 [A/G] exm-rs2851060 4 101953322 [T/C] NM_001130692,NM_000944,NM_001130691 PPP3CA,PPP3CA,PPP3CA Silent,Silent,Silent exm415784 4 102019631 [T/C] NM_001130692,NM_000944,NM_001130691 PPP3CA,PPP3CA,PPP3CA EXON Missense_M179V,Missense_M179V,Missense_M179V exm415788 4 102019648 [T/C] NM_001130692,NM_000944,NM_001130691 PPP3CA,PPP3CA,PPP3CA EXON Missense_R173H,Missense_R173H,Missense_R173H exm415797 4 102117114 [T/C] NM_001130692,NM_000944,NM_001130691 PPP3CA,PPP3CA,PPP3CA EXON Missense_R73Q,Missense_R73Q,Missense_R73Q exm415802 4 102117241 [A/C] NM_001130692,NM_000944,NM_001130691 PPP3CA,PPP3CA,PPP3CA EXON Missense_A31S,Missense_A31S,Missense_A31S exm2265859 4 102199215 [A/G] NM_001130692,NM_000944,NM_001130691 PPP3CA,PPP3CA,PPP3CA Silent,Silent,Silent exm-rs1441433 4 102209360 [T/G] NM_001130692,NM_000944,NM_001130691 PPP3CA,PPP3CA,PPP3CA Silent,Silent,Silent exm2269809 4 102343571 [T/C] exm2269810 4 102642526 [T/C] exm415820 4 102751014 [C/G] NM_017935,NM_001127507,NM_001083907 BANK1,BANK1,BANK1 EXON Missense_W40C,Silent,Missense_W10C exm415825 4 102751045 [A/G] NM_017935,NM_001127507,NM_001083907 BANK1,BANK1,BANK1 EXON Missense_V51I,Silent,Missense_V21I exm415826 4 102751046 [T/C] NM_017935,NM_001127507,NM_001083907 BANK1,BANK1,BANK1 EXON Missense_V51A,Silent,Missense_V21A exm415827 4 102751072 [T/C] NM_017935,NM_001127507,NM_001083907 BANK1,BANK1,BANK1 EXON Missense_Y60H,Silent,Missense_Y30H exm415828 4 102751076 [A/G] NM_017935,NM_001127507,NM_001083907 BANK1,BANK1,BANK1 EXON Missense_R61H,Silent,Missense_R31H exm415849 4 102783698 [T/G] NM_017935,NM_001127507,NM_001083907 BANK1,BANK1,BANK1 EXON Missense_F214V,Missense_F81V,Missense_F184V exm415852 4 102783776 [T/C] NM_017935,NM_001127507,NM_001083907 BANK1,BANK1,BANK1 EXON Missense_R240W,Missense_R107W,Missense_R210W exm415857 4 102791709 [A/G] NM_017935,NM_001127507,NM_001083907 BANK1,BANK1,BANK1 EXON Missense_V271I,Missense_V138I,Missense_V241I exm415859 4 102791797 [T/G] NM_017935,NM_001127507,NM_001083907 BANK1,BANK1,BANK1 EXON Missense_C300F,Missense_C167F,Missense_C270F exm415864 4 102816469 [T/C] NM_017935,NM_001127507,NM_001083907 BANK1,BANK1,BANK1 EXON Missense_I304T,Missense_I171T,Missense_I274T exm415865 4 102816487 [T/C] NM_017935,NM_001127507,NM_001083907 BANK1,BANK1,BANK1 EXON Missense_V310A,Missense_V177A,Missense_V280A exm2062735 4 102816503 [C/G] NM_017935,NM_001127507,NM_001083907 BANK1,BANK1,BANK1 EXON Missense_F315L,Missense_F182L,Missense_F285L exm415867 4 102816505 [A/C] NM_017935,NM_001127507,NM_001083907 BANK1,BANK1,BANK1 EXON Missense_K316T,Missense_K183T,Missense_K286T exm415876 4 102839254 [T/C] NM_017935,NM_001127507,NM_001083907 BANK1,BANK1,BANK1 EXON Missense_S372P,Missense_S239P,Missense_S342P exm415878 4 102839287 [A/G] NM_017935,NM_001127507,NM_001083907 BANK1,BANK1,BANK1 EXON Missense_A383T,Missense_A250T,Missense_A353T exm415891 4 102946420 [C/G] NM_017935,NM_001127507,NM_001083907 BANK1,BANK1,BANK1 EXON Missense_A450P,Missense_A317P,Missense_A420P exm2062744 4 102946501 [A/G] NM_017935,NM_001127507,NM_001083907 BANK1,BANK1,BANK1 EXON Missense_S477G,Missense_S344G,Missense_S447G exm415896 4 102946592 [A/G] NM_017935,NM_001127507,NM_001083907 BANK1,BANK1,BANK1 EXON Missense_S507N,Missense_S374N,Missense_S477N exm415907 4 102951252 [T/C] NM_017935,NM_001127507,NM_001083907 BANK1,BANK1,BANK1 EXON Missense_P577L,Missense_P444L,Missense_P547L exm415916 4 102965016 [A/G] NM_017935,NM_001127507,NM_001083907 BANK1,BANK1,BANK1 EXON Missense_R641G,Missense_R508G,Missense_R611G exm415919 4 102965043 [T/C] NM_017935,NM_001127507,NM_001083907 BANK1,BANK1,BANK1 EXON Missense_C650R,Missense_C517R,Missense_C620R exm415932 4 102993529 [A/C] NM_017935,NM_001127507,NM_001083907 BANK1,BANK1,BANK1 EXON Missense_K757T,Missense_K624T,Missense_K727T exm415933 4 102993534 [T/C] NM_017935,NM_001127507,NM_001083907 BANK1,BANK1,BANK1 EXON Missense_Y759H,Missense_Y626H,Missense_Y729H exm415934 4 102993543 [T/C] NM_017935,NM_001127507,NM_001083907 BANK1,BANK1,BANK1 EXON Missense_H762Y,Missense_H629Y,Missense_H732Y exm415936 4 102994851 [A/G] NM_017935,NM_001127507,NM_001083907 BANK1,BANK1,BANK1 EXON Missense_R770Q,Missense_R637Q,Missense_R740Q exm2261574 4 103091730 [A/G] exm2256251 4 103096805 [T/C] exm415946 4 103184239 [A/G] NM_001135147,NM_001135146,NM_001135148,NM_022154 SLC39A8,SLC39A8,SLC39A8,SLC39A8 EXON Silent,Missense_L449F,Missense_L382F,Missense_L449F exm415951 4 103184317 [C/G] NM_001135147,NM_001135146,NM_001135148,NM_022154 SLC39A8,SLC39A8,SLC39A8,SLC39A8 EXON Silent,Missense_V423L,Missense_V356L,Missense_V423L exm415954 4 103188709 [T/C] NM_001135147,NM_001135146,NM_001135148,NM_022154 SLC39A8,SLC39A8,SLC39A8,SLC39A8 EXON Missense_A391T,Missense_A391T,Missense_A324T,Missense_A391T exm415956 4 103188714 [T/C] NM_001135147,NM_001135146,NM_001135148,NM_022154 SLC39A8,SLC39A8,SLC39A8,SLC39A8 EXON Missense_N389S,Missense_N389S,Missense_N322S,Missense_N389S exm415974 4 103225569 [G/C] NM_001135147,NM_001135146,NM_001135148,NM_022154 SLC39A8,SLC39A8,SLC39A8,SLC39A8 EXON Missense_P249A,Missense_P249A,Missense_P182A,Missense_P249A exm2256252 4 103488170 [A/G] NM_003998,NM_001165412 NFKB1,NFKB1 EXON Synonymous_K95K,Synonymous_K94K exm416012 4 103488291 [A/G] NM_003998,NM_001165412 NFKB1,NFKB1 EXON Missense_G136S,Missense_G135S exm416017 4 103498185 [A/G] NM_003998,NM_001165412 NFKB1,NFKB1 EXON Missense_R187Q,Missense_R186Q exm416022 4 103500181 [A/G] NM_003998,NM_001165412 NFKB1,NFKB1 EXON Missense_A239T,Missense_A238T exm416030 4 103505889 [A/C] NM_003998,NM_001165412 NFKB1,NFKB1 EXON Missense_K326N,Missense_K325N exm416050 4 103517336 [A/G] NM_003998,NM_001165412 NFKB1,NFKB1 EXON Missense_D448N,Missense_D447N exm416051 4 103517382 [T/C] NM_003998,NM_001165412 NFKB1,NFKB1 EXON Missense_I463T,Missense_I462T exm416053 4 103517418 [G/C] NM_003998,NM_001165412 NFKB1,NFKB1 EXON Missense_A475G,Missense_A474G exm416055 4 103517463 [T/C] NM_003998,NM_001165412 NFKB1,NFKB1 EXON Missense_T490I,Missense_T489I exm416057 4 103518681 [A/C] NM_003998,NM_001165412 NFKB1,NFKB1 EXON Missense_N500K,Missense_N499K exm416059 4 103518700 [A/G] NM_003998,NM_001165412 NFKB1,NFKB1 EXON Missense_M507V,Missense_M506V exm416062 4 103518782 [A/G] NM_003998,NM_001165412 NFKB1,NFKB1 EXON Missense_R534H,Missense_R533H exm416064 4 103522068 [A/G] NM_003998,NM_001165412 NFKB1,NFKB1 EXON Missense_I552V,Missense_I551V exm416065 4 103522114 [T/C] NM_003998,NM_001165412 NFKB1,NFKB1 EXON Missense_T567I,Missense_T566I exm416066 4 103522150 [A/G] NM_003998,NM_001165412 NFKB1,NFKB1 EXON Missense_R579K,Missense_R578K exm2240246 4 103527699 [A/C] NM_003998,NM_001165412 NFKB1,NFKB1 EXON Missense_E600A,Missense_E599A exm416071 4 103527745 [T/G] NM_003998,NM_001165412 NFKB1,NFKB1 EXON Missense_L615F,Missense_L614F exm416090 4 103528817 [T/G] NM_003998,NM_001165412 NFKB1,NFKB1 EXON Missense_H712Q,Missense_H711Q exm416115 4 103534700 [T/C] NM_003998,NM_001165412 NFKB1,NFKB1 EXON Missense_S904L,Missense_S903L exm416118 4 103537592 [T/C] NM_003998,NM_001165412 NFKB1,NFKB1 EXON Synonymous_D917D,Synonymous_D916D exm416122 4 103537672 [A/C] NM_003998,NM_001165412 NFKB1,NFKB1 EXON Missense_T944N,Missense_T943N exm2062823 4 103537711 [T/A] NM_003998,NM_001165412 NFKB1,NFKB1 EXON Missense_H957L,Missense_H956L exm-rs4698861 4 103545487 [A/G] exm-rs7665090 4 103551603 [A/G] exm416132 4 103553221 [A/G] NM_005908 MANBA EXON Missense_I878T exm416135 4 103553318 [T/G] NM_005908 MANBA EXON Missense_M846L exm416137 4 103553372 [T/C] NM_005908 MANBA EXON Missense_V828I exm2274039 4 103553381 [A/C] NM_005908 MANBA EXON Missense_A825S exm416149 4 103556049 [A/C] NM_005908 MANBA EXON Missense_V771F exm416155 4 103556169 [T/C] NM_005908 MANBA EXON Missense_V731M exm416156 4 103556180 [A/G] NM_005908 MANBA EXON Missense_S727F exm416162 4 103557077 [A/G] NM_005908 MANBA EXON Missense_T701M exm416171 4 103560963 [A/G] NM_005908 MANBA EXON Missense_R641C exm2269812 4 103575067 [T/C] NM_005908 MANBA Silent exm416185 4 103578847 [A/C] NM_005908 MANBA EXON Missense_L566V exm416188 4 103578861 [A/G] NM_005908 MANBA EXON Missense_P561L exm416193 4 103579044 [T/C] NM_005908 MANBA EXON Missense_R500H exm416207 4 103590196 [T/C] NM_005908 MANBA EXON Missense_D414G exm416214 4 103595227 [A/C] NM_005908 MANBA EXON Missense_V321F exm416221 4 103611845 [T/C] NM_005908 MANBA EXON Missense_V253I exm416230 4 103644041 [T/C] NM_005908 MANBA EXON Missense_N179S exm416233 4 103644098 [T/C] NM_005908 MANBA EXON Missense_R160H exm416234 4 103644099 [A/G] NM_005908 MANBA EXON Missense_R160C exm2062878 4 103720097 [G/C] NM_181886,NM_181891,NM_181893,NM_181889,NM_003340,NM_181888,NM_181887,NM_181892,NM_181890 UBE2D3,UBE2D3,UBE2D3,UBE2D3,UBE2D3,UBE2D3,UBE2D3,UBE2D3,UBE2D3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_A146P,Silent exm416267 4 103730849 [T/G] NM_181886,NM_181891,NM_181893,NM_181889,NM_003340,NM_181888,NM_181887,NM_181892,NM_181890 UBE2D3,UBE2D3,UBE2D3,UBE2D3,UBE2D3,UBE2D3,UBE2D3,UBE2D3,UBE2D3 EXON Missense_Q34K,Missense_Q34K,Missense_Q36K,Missense_Q34K,Missense_Q34K,Missense_Q34K,Missense_Q34K,Missense_Q34K,Missense_Q34K exm416350 4 103853409 [A/G] NR_047513,NR_047515,NM_001100874,NM_139173 SLC9B1,SLC9B1,SLC9B1,SLC9B1 EXON Silent,Silent,Missense_M234T,Missense_M234T exm416354 4 103866456 [T/C] NR_047513,NR_047515,NM_001100874,NM_139173 SLC9B1,SLC9B1,SLC9B1,SLC9B1 EXON Silent,Silent,Missense_V183I,Missense_V183I exm2240250 4 103866468 [T/G] NR_047513,NR_047515,NM_001100874,NM_139173 SLC9B1,SLC9B1,SLC9B1,SLC9B1 EXON Silent,Silent,Missense_H179N,Missense_H179N exm2240251 4 103866469 [A/C] NR_047513,NR_047515,NM_001100874,NM_139173 SLC9B1,SLC9B1,SLC9B1,SLC9B1 EXON Silent,Silent,Missense_R178S,Missense_R178S exm2062937 4 103911041 [T/A] NR_047513,NR_047515,NM_001100874,NM_139173 SLC9B1,SLC9B1,SLC9B1,SLC9B1 EXON Silent,Silent,Missense_T43S,Missense_T43S exm416370 4 103911069 [A/C] NR_047513,NR_047515,NM_001100874,NM_139173 SLC9B1,SLC9B1,SLC9B1,SLC9B1 EXON Silent,Silent,Missense_Q33H,Missense_Q33H exm416378 4 103947631 [T/C] NM_178833 SLC9B2 EXON Missense_I504V exm416383 4 103950001 [T/C] NM_178833 SLC9B2 EXON Missense_R432Q exm416387 4 103952869 [G/C] NM_178833 SLC9B2 EXON Missense_P415A exm416389 4 103952890 [A/C] NM_178833 SLC9B2 EXON Missense_V408L exm416393 4 103964473 [T/C] NM_178833 SLC9B2 EXON Missense_M376V exm416396 4 103964529 [A/C] NM_178833 SLC9B2 EXON Missense_F357C exm416398 4 103966054 [T/C] NM_178833 SLC9B2 EXON Missense_R330H exm416403 4 103968223 [T/C] NM_178833 SLC9B2 EXON Missense_I292V exm416417 4 103970062 [A/C] NM_178833 SLC9B2 EXON Missense_G234V exm2062959 4 103970116 [A/G] NM_178833 SLC9B2 EXON Missense_A216V exm416420 4 103970156 [T/C] NM_178833 SLC9B2 EXON Missense_V203I exm416421 4 103971449 [T/C] NM_178833 SLC9B2 EXON Missense_S178N exm416422 4 103971481 [C/G] NM_178833 SLC9B2 EXON Missense_Q167H exm416423 4 103971482 [T/C] NM_178833 SLC9B2 EXON Missense_Q167R exm416426 4 103971500 [A/G] NM_178833 SLC9B2 EXON Missense_V161A exm416428 4 103971506 [A/G] NM_178833 SLC9B2 EXON Missense_I159T exm416430 4 103978975 [A/G] NM_178833 SLC9B2 EXON Missense_P142L exm416435 4 103979051 [T/C] NM_178833 SLC9B2 EXON Missense_G117R exm416458 4 104003327 [A/G] NM_020139 BDH2 EXON Missense_R199W exm416472 4 104007635 [A/C] NM_020139 BDH2 Silent exm416477 4 104007682 [A/G] NM_020139 BDH2 EXON Missense_S125P exm416481 4 104012365 [A/G] NM_020139 BDH2 EXON Missense_M109T exm416483 4 104012371 [T/C] NM_020139 BDH2 EXON Missense_R107H exm416484 4 104012372 [A/G] NM_020139 BDH2 EXON Missense_R107C exm416485 4 104012377 [T/A] NM_020139 BDH2 EXON Missense_N105I exm416491 4 104016361 [T/C] NM_020139 BDH2 EXON Synonymous_P50P exm416492 4 104016362 [A/G] NM_020139 BDH2 EXON Missense_P50L exm416494 4 104016424 [T/G] NM_020139 BDH2 EXON Missense_E29D exm416495 4 104016431 [A/G] NM_020139 BDH2 EXON Missense_A27V exm2062984 4 104017377 [A/G] NM_020139 BDH2 EXON Missense_T12M exm416504 4 104027405 [T/C] NM_001813 CENPE EXON Missense_D2694N exm416511 4 104030085 [T/C] NM_001813 CENPE EXON Missense_R2629Q exm416518 4 104030239 [G/C] NM_001813 CENPE EXON Missense_Q2578E exm416526 4 104032167 [T/C] NM_001813 CENPE EXON Synonymous_V2514V exm416541 4 104041340 [A/G] NM_001813 CENPE EXON Missense_L2432F exm416544 4 104041412 [T/G] NM_001813 CENPE EXON Missense_Q2408K exm416549 4 104044197 [G/C] NM_001813 CENPE EXON Missense_S2325C exm416551 4 104044243 [T/C] NM_001813 CENPE EXON Missense_I2310V exm416552 4 104053867 [A/T] NM_001813 CENPE EXON Missense_F2303I exm416559 4 104054883 [A/T] NM_001813 CENPE EXON Missense_K2230I exm416564 4 104055000 [A/G] NM_001813 CENPE EXON Missense_I2191T exm416565 4 104055001 [T/C] NM_001813 CENPE EXON Missense_I2191V exm416567 4 104057383 [T/C] NM_001813 CENPE EXON Missense_Y2146C exm416571 4 104059542 [A/G] NM_001813 CENPE EXON Missense_T2090M exm416577 4 104060947 [G/C] NM_001813 CENPE EXON Missense_R2068T exm2063015 4 104061537 [T/C] NM_001813 CENPE EXON Missense_R1930H exm416590 4 104061551 [T/G] NM_001813 CENPE EXON Missense_E1925D exm416591 4 104061555 [T/C] NM_001813 CENPE EXON Missense_Q1924R exm416593 4 104061978 [T/G] NM_001813 CENPE EXON Missense_K1916T exm416594 4 104061993 [G/C] NM_001813 CENPE EXON Missense_S1911T exm416602 4 104062206 [T/C] NM_001813 CENPE EXON Missense_N1840S exm2063022 4 104065609 [T/C] NM_001813 CENPE EXON Missense_H1675R exm2240261 4 104065645 [A/G] NM_001813 CENPE EXON Missense_I1663T exm2063023 4 104065697 [T/C] NM_001813 CENPE EXON Missense_I1646V exm416622 4 104066273 [T/G] NM_001813 CENPE EXON Missense_R1597S exm416623 4 104066290 [T/G] NM_001813 CENPE EXON Missense_K1592Q exm416625 4 104066323 [T/G] NM_001813 CENPE EXON Missense_S1581R exm416631 4 104066461 [A/G] NM_001813 CENPE EXON Missense_F1535L exm416633 4 104066814 [T/C] NM_001813 CENPE EXON Missense_K1480E exm416639 4 104067112 [T/A] NM_001813 CENPE EXON Missense_R1429S exm416640 4 104067125 [T/C] NM_001813 CENPE EXON Missense_G1425E exm416641 4 104067126 [T/C] NM_001813 CENPE EXON Missense_G1425R exm416648 4 104068553 [A/T] NM_001813 CENPE EXON Missense_H1365L exm416649 4 104068584 [T/C] NM_001813 CENPE EXON Missense_K1355E exm416656 4 104070041 [A/G] NM_001813 CENPE EXON Missense_T1268I exm416659 4 104070095 [C/G] NM_001813 CENPE EXON Missense_T1250S exm416666 4 104070433 [T/A] NM_001813 CENPE EXON Missense_M1177L exm416679 4 104074204 [T/C] NM_001813 CENPE EXON Missense_M1079I exm416690 4 104079590 [T/C] NM_001813 CENPE EXON Missense_R967Q exm2275764 4 104079848 [A/C] NM_001813 CENPE EXON Missense_D933Y exm416700 4 104080033 [T/C] NM_001813 CENPE EXON Missense_K871R exm416702 4 104080217 [A/C] NM_001813 CENPE EXON Missense_S851A exm416722 4 104082324 [T/C] NM_001813 CENPE EXON Missense_V684I exm416726 4 104082545 [T/C] NM_001813 CENPE EXON Missense_K638E exm416772 4 104115535 [T/C] NM_001813 CENPE EXON Missense_R208K exm416778 4 104117108 [C/G] NM_001813 CENPE EXON Missense_A109G exm416790 4 104117353 [A/G] NM_001813 CENPE EXON Missense_P69S exm-rs4699052 4 104137790 [T/C] exm2269949 4 104182954 [T/C] exm2265738 4 104215332 [A/G] exm2265739 4 104510766 [A/G] NM_001059 TACR3 EXON Silent exm416803 4 104510892 [T/C] NM_001059 TACR3 EXON Missense_A449T exm416805 4 104510916 [A/G] NM_001059 TACR3 EXON Missense_R441C exm416824 4 104577382 [T/C] NM_001059 TACR3 EXON Missense_K286R exm416826 4 104577415 [T/C] NM_001059 TACR3 EXON Nonsense_W275X exm416828 4 104577494 [T/C] NM_001059 TACR3 EXON Missense_I249V exm2269813 4 105061061 [T/G] exm2261576 4 105375423 [T/G] exm2269814 4 105450529 [T/C] exm-rs10005603 4 105844273 [T/G] exm-rs7679673 4 106061534 [A/C] exm-rs9884482 4 106081636 [T/C] NM_017628,NM_001127208 TET2,TET2 Silent,Silent exm-rs10010325 4 106106353 [A/C] NM_017628,NM_001127208 TET2,TET2 Silent,Silent exm416888 4 106155121 [G/C] NM_017628,NM_001127208 TET2,TET2 EXON Missense_H8D,Missense_H8D exm416891 4 106155185 [G/C] NM_017628,NM_001127208 TET2,TET2 EXON Missense_P29R,Missense_P29R exm416893 4 106155199 [T/C] NM_017628,NM_001127208 TET2,TET2 EXON Missense_L34F,Missense_L34F exm416904 4 106155533 [A/G] NM_017628,NM_001127208 TET2,TET2 EXON Missense_S145N,Missense_S145N exm416905 4 106155620 [A/C] NM_017628,NM_001127208 TET2,TET2 EXON Missense_P174H,Missense_P174H exm416906 4 106155673 [T/C] NM_017628,NM_001127208 TET2,TET2 EXON Missense_Y192H,Missense_Y192H exm416909 4 106155751 [A/G] NM_017628,NM_001127208 TET2,TET2 EXON Missense_V218M,Missense_V218M exm416927 4 106156163 [A/G] NM_017628,NM_001127208 TET2,TET2 EXON Missense_G355D,Missense_G355D exm416928 4 106156187 [T/C] NM_017628,NM_001127208 TET2,TET2 EXON Missense_P363L,Missense_P363L exm2240273 4 106157138 [T/G] NM_017628,NM_001127208 TET2,TET2 EXON Missense_R680I,Missense_R680I exm416958 4 106157293 [C/G] NM_017628,NM_001127208 TET2,TET2 EXON Missense_P732A,Missense_P732A exm416961 4 106157398 [A/G] NM_017628,NM_001127208 TET2,TET2 EXON Missense_N767D,Missense_N767D exm416967 4 106157528 [A/G] NM_017628,NM_001127208 TET2,TET2 EXON Missense_Q810R,Missense_Q810R exm2063195 4 106157539 [T/C] NM_017628,NM_001127208 TET2,TET2 EXON Missense_R814C,Missense_R814C exm416968 4 106157540 [A/G] NM_017628,NM_001127208 TET2,TET2 EXON Missense_R814H,Missense_R814H exm416973 4 106157698 [T/C] NM_017628,NM_001127208 TET2,TET2 EXON Missense_Y867H,Missense_Y867H exm416975 4 106157703 [T/G] NM_017628,NM_001127208 TET2,TET2 EXON Missense_F868L,Missense_F868L exm2063198 4 106157768 [T/C] NM_017628,NM_001127208 TET2,TET2 EXON Missense_S890L,Missense_S890L exm416983 4 106157870 [A/G] NM_017628,NM_001127208 TET2,TET2 EXON Missense_H924R,Missense_H924R exm2063201 4 106158215 [T/C] NM_017628,NM_001127208 TET2,TET2 EXON Missense_S1039L,Missense_S1039L exm417006 4 106158350 [A/C] NM_017628,NM_001127208 TET2,TET2 EXON Missense_Q1084P,Missense_Q1084P exm417010 4 106158526 [A/G] NM_017628,NM_001127208 TET2,TET2 EXON Missense_T1143A,Silent exm417012 4 106158545 [A/C] NM_017628,NM_001127208 TET2,TET2 EXON Missense_Y1149S,Silent exm2063205 4 106158550 [T/G] NM_017628,NM_001127208 TET2,TET2 EXON Nonsense_E1151X,Silent exm417038 4 106196770 [A/G] NM_001127208 TET2 EXON Missense_M1701I exm417039 4 106196819 [T/G] NM_001127208 TET2 EXON Missense_V1718L exm417040 4 106196829 [T/G] NM_001127208 TET2 EXON Missense_L1721W exm417041 4 106196834 [T/C] NM_001127208 TET2 EXON Missense_P1723S exm417043 4 106196951 [A/G] NM_001127208 TET2 EXON Missense_I1762V exm417045 4 106197000 [A/G] NM_001127208 TET2 EXON Missense_H1778R exm2063212 4 106307762 [A/G] NM_176869,NM_176866,NM_006903,NM_176867 PPA2,PPA2,PPA2,PPA2 EXON Missense_R301C,Missense_R199C,Missense_R272C,Missense_R135C exm417069 4 106317429 [G/C] NM_176869,NM_176866,NM_006903,NM_176867 PPA2,PPA2,PPA2,PPA2 EXON Missense_K282N,Missense_K180N,Missense_K253N,Missense_K116N exm417073 4 106320250 [A/C] NM_176869,NM_176866,NM_006903,NM_176867 PPA2,PPA2,PPA2,PPA2 EXON Missense_V243L,Missense_V141L,Missense_V214L,Missense_V77L exm417075 4 106320294 [A/G] NM_176869,NM_176866,NM_006903,NM_176867 PPA2,PPA2,PPA2,PPA2 EXON Missense_P228L,Missense_P126L,Missense_P199L,Missense_P62L exm417085 4 106359121 [T/C] NM_176869,NM_176866,NM_006903,NM_176867 PPA2,PPA2,PPA2,PPA2 EXON Missense_E172K,Silent,Silent,Silent exm417093 4 106367601 [A/C] NM_176869,NM_176866,NM_006903,NM_176867 PPA2,PPA2,PPA2,PPA2 EXON Missense_R127L,Silent,Missense_R127L,Silent exm417099 4 106370519 [A/C] NM_176869,NM_176866,NM_006903,NM_176867 PPA2,PPA2,PPA2,PPA2 EXON Missense_N103K,Silent,Missense_N103K,Silent exm417105 4 106374771 [T/C] NM_176869,NM_176866,NM_006903,NM_176867 PPA2,PPA2,PPA2,PPA2 EXON Missense_R84Q,Silent,Missense_R84Q,Silent exm417133 4 106395144 [T/C] NM_176869,NM_176866,NM_006903,NM_176867 PPA2,PPA2,PPA2,PPA2 EXON Missense_T22A,Missense_T22A,Missense_T22A,Missense_T22A exm417138 4 106395186 [C/G] NM_176869,NM_176866,NM_006903,NM_176867 PPA2,PPA2,PPA2,PPA2 EXON Missense_L8V,Missense_L8V,Missense_L8V,Missense_L8V exm2274040 4 106395202 [A/G] NM_176869,NM_176866,NM_006903,NM_176867 PPA2,PPA2,PPA2,PPA2 EXON Synonymous_S2S,Synonymous_S2S,Synonymous_S2S,Synonymous_S2S exm2264063 4 106448900 [A/C] exm-rs7669317 4 106457330 [T/C] exm417144 4 106473983 [T/C] NM_001242729,NM_017700 ARHGEF38,ARHGEF38 EXON Missense_F21L,Missense_F21L exm417146 4 106473991 [T/G] NM_001242729,NM_017700 ARHGEF38,ARHGEF38 EXON Missense_R23S,Missense_R23S exm417151 4 106474097 [T/G] NM_001242729,NM_017700 ARHGEF38,ARHGEF38 EXON Nonsense_E59X,Nonsense_E59X exm417154 4 106510452 [A/C] NM_001242729,NM_017700 ARHGEF38,ARHGEF38 EXON Missense_P82T,Missense_P82T exm417155 4 106510470 [A/G] NM_001242729,NM_017700 ARHGEF38,ARHGEF38 EXON Missense_M88V,Missense_M88V exm417157 4 106510543 [A/G] NM_001242729,NM_017700 ARHGEF38,ARHGEF38 EXON Missense_D112G,Missense_D112G exm417160 4 106510582 [G/C] NM_001242729,NM_017700 ARHGEF38,ARHGEF38 EXON Missense_R125T,Missense_R125T exm417168 4 106534599 [T/C] NM_001242729,NM_017700 ARHGEF38,ARHGEF38 EXON Missense_S148L,Missense_S148L exm417176 4 106552118 [A/G] NM_001242729,NM_017700 ARHGEF38,ARHGEF38 EXON Missense_H191R,Missense_H191R exm2256263 4 106552167 [T/G] NM_001242729,NM_017700 ARHGEF38,ARHGEF38 EXON Synonymous_L207L,Synonymous_L207L exm417193 4 106604164 [A/C] NM_020395,NM_001142471 INTS12,INTS12 EXON Missense_G372V,Missense_G372V exm-rs11727189 4 106619140 [T/G] NM_020395,NM_001142471 INTS12,INTS12 Silent,Silent exm417228 4 106621042 [A/G] NM_020395,NM_001142471 INTS12,INTS12 EXON Missense_R41W,Missense_R41W exm417233 4 106621170 [A/G] NM_020395,NM_001142471 INTS12,INTS12 EXON Silent,Silent exm2269951 4 106625263 [T/G] NM_020395,NM_001142471 INTS12,INTS12 Silent,Silent exm417254 4 106640377 [A/G] NM_024751,NM_001031720 GSTCD,GSTCD EXON Missense_R109H,Missense_R196H exm417257 4 106640452 [T/G] NM_024751,NM_001031720 GSTCD,GSTCD EXON Missense_V134G,Missense_V221G exm417259 4 106640481 [T/G] NM_024751,NM_001031720 GSTCD,GSTCD EXON Missense_D144Y,Missense_D231Y exm417265 4 106640631 [T/C] NM_024751,NM_001031720 GSTCD,GSTCD EXON Missense_L194F,Missense_L281F exm-rs10516526 4 106688904 [A/G] NM_024751,NM_001031720 GSTCD,GSTCD Silent,Silent exm417289 4 106746927 [A/G] NM_024751,NM_001031720 GSTCD,GSTCD EXON Missense_M413I,Missense_M500I exm417292 4 106755645 [A/G] NM_024751,NM_001031720 GSTCD,GSTCD EXON Missense_T433A,Missense_T520A exm2275765 4 106819089 [G/C] NM_001184691,NM_001184690,NM_001033047,NM_001184692,NM_001184693 NPNT,NPNT,NPNT,NPNT,NPNT EXON Missense_L35V,Missense_L35V,Missense_L35V,Missense_L35V,Missense_L35V exm417317 4 106819144 [C/G] NM_001184691,NM_001184690,NM_001033047,NM_001184692,NM_001184693 NPNT,NPNT,NPNT,NPNT,NPNT EXON Missense_W53S,Missense_W53S,Missense_W53S,Missense_W53S,Missense_W53S exm417321 4 106848537 [A/G] NM_001184691,NM_001184690,NM_001033047,NM_001184692,NM_001184693 NPNT,NPNT,NPNT,NPNT,NPNT EXON Missense_N73D,Missense_N90D,Missense_N73D,Missense_N73D,Missense_N73D exm417331 4 106859520 [T/C] NM_001184691,NM_001184690,NM_001033047,NM_001184692,NM_001184693 NPNT,NPNT,NPNT,NPNT,NPNT EXON Missense_R180W,Missense_R167W,Missense_R150W,Missense_R150W,Missense_R180W exm417333 4 106859539 [T/C] NM_001184691,NM_001184690,NM_001033047,NM_001184692,NM_001184693 NPNT,NPNT,NPNT,NPNT,NPNT EXON Missense_P186L,Missense_P173L,Missense_P156L,Missense_P156L,Missense_P186L exm417335 4 106861246 [A/G] NM_001184691,NM_001184690,NM_001033047,NM_001184692,NM_001184693 NPNT,NPNT,NPNT,NPNT,NPNT EXON Missense_A204T,Missense_A191T,Missense_A174T,Missense_A174T,Missense_A204T exm417345 4 106861730 [A/G] NM_001184691,NM_001184690,NM_001033047,NM_001184692,NM_001184693 NPNT,NPNT,NPNT,NPNT,NPNT EXON Missense_I264V,Missense_I251V,Missense_I234V,Missense_I234V,Missense_I264V exm417347 4 106861763 [A/G] NM_001184691,NM_001184690,NM_001033047,NM_001184692,NM_001184693 NPNT,NPNT,NPNT,NPNT,NPNT EXON Missense_G275R,Missense_G262R,Missense_G245R,Missense_G245R,Missense_G275R exm417350 4 106863482 [T/C] NM_001184691,NM_001184690,NM_001033047,NM_001184692,NM_001184693 NPNT,NPNT,NPNT,NPNT,NPNT EXON Missense_I291T,Missense_I278T,Missense_I261T,Missense_I261T,Missense_I291T exm417351 4 106863506 [T/C] NM_001184691,NM_001184690,NM_001033047,NM_001184692,NM_001184693 NPNT,NPNT,NPNT,NPNT,NPNT EXON Missense_V299A,Missense_V286A,Missense_V269A,Missense_V269A,Missense_V299A exm417359 4 106863626 [A/G] NM_001184691,NM_001184690,NM_001033047,NM_001184692,NM_001184693 NPNT,NPNT,NPNT,NPNT,NPNT EXON Missense_R339K,Missense_R326K,Missense_R309K,Missense_R309K,Missense_R339K exm417362 4 106863655 [A/C] NM_001184691,NM_001184690,NM_001033047,NM_001184692,NM_001184693 NPNT,NPNT,NPNT,NPNT,NPNT EXON Missense_T349P,Missense_T336P,Missense_T319P,Missense_T319P,Missense_T349P exm417372 4 106863842 [T/C] NM_001184691,NM_001184690,NM_001033047,NM_001184692,NM_001184693 NPNT,NPNT,NPNT,NPNT,NPNT EXON Missense_P411L,Missense_P398L,Missense_P381L,Missense_P381L,Missense_P411L exm417379 4 106880251 [A/G] NM_001184691,NM_001184690,NM_001033047,NM_001184692,NM_001184693 NPNT,NPNT,NPNT,NPNT,NPNT EXON Missense_D468G,Missense_D455G,Missense_D438G,Missense_D409G,Missense_D439G exm417389 4 106888416 [A/G] NM_001184691,NM_001184690,NM_001033047,NM_001184692,NM_001184693 NPNT,NPNT,NPNT,NPNT,NPNT EXON Missense_G503S,Missense_G490S,Missense_G473S,Missense_G444S,Missense_G474S exm417391 4 106888426 [T/C] NM_001184691,NM_001184690,NM_001033047,NM_001184692,NM_001184693 NPNT,NPNT,NPNT,NPNT,NPNT EXON Missense_M506T,Missense_M493T,Missense_M476T,Missense_M447T,Missense_M477T exm417394 4 106888468 [T/C] NM_001184691,NM_001184690,NM_001033047,NM_001184692,NM_001184693 NPNT,NPNT,NPNT,NPNT,NPNT EXON Missense_T520M,Missense_T507M,Missense_T490M,Missense_T461M,Missense_T491M exm417400 4 106888545 [A/G] NM_001184691,NM_001184690,NM_001033047,NM_001184692,NM_001184693 NPNT,NPNT,NPNT,NPNT,NPNT EXON Missense_G546S,Missense_G533S,Missense_G516S,Missense_G487S,Missense_G517S exm417403 4 106888601 [T/C] NM_001184691,NM_001184690,NM_001033047,NM_001184692,NM_001184693 NPNT,NPNT,NPNT,NPNT,NPNT EXON Synonymous_S564S,Synonymous_S551S,Synonymous_S534S,Synonymous_S505S,Synonymous_S535S exm2063332 4 106890077 [A/G] NM_001184691,NM_001184690,NM_001033047,NM_001184692,NM_001184693 NPNT,NPNT,NPNT,NPNT,NPNT EXON Missense_R573H,Missense_R560H,Missense_R543H,Missense_R514H,Missense_R544H exm417407 4 106890086 [A/C] NM_001184691,NM_001184690,NM_001033047,NM_001184692,NM_001184693 NPNT,NPNT,NPNT,NPNT,NPNT EXON Missense_T576N,Missense_T563N,Missense_T546N,Missense_T517N,Missense_T547N exm2063333 4 106890143 [A/G] NM_001184691,NM_001184690,NM_001033047,NM_001184692,NM_001184693 NPNT,NPNT,NPNT,NPNT,NPNT EXON Missense_R595H,Missense_R582H,Missense_R565H,Missense_R536H,Missense_R566H exm2265740 4 106922960 [A/G] exm417417 4 107016742 [A/G] NM_033115,NM_001163435,NM_001163436,NM_001163437 TBCK,TBCK,TBCK,TBCK EXON Missense_T760I,Missense_T823I,Missense_T823I,Missense_T784I exm2256265 4 107016789 [A/G] NM_033115,NM_001163435,NM_001163436,NM_001163437 TBCK,TBCK,TBCK,TBCK EXON Synonymous_R744R,Synonymous_R807R,Synonymous_R807R,Synonymous_R768R exm417430 4 107092341 [A/G] NM_033115,NM_001163435,NM_001163436,NM_001163437 TBCK,TBCK,TBCK,TBCK EXON Missense_P653S,Missense_P716S,Missense_P716S,Missense_P677S exm2274041 4 107154188 [T/C] NM_033115,NM_001163435,NM_001163436,NM_001163437 TBCK,TBCK,TBCK,TBCK EXON Missense_D453N,Missense_D516N,Missense_D516N,Missense_D477N exm417472 4 107154749 [T/C] NM_033115,NM_001163435,NM_001163436,NM_001163437 TBCK,TBCK,TBCK,TBCK EXON Missense_R440K,Missense_R503K,Missense_R503K,Missense_R464K exm2274042 4 107154790 [C/G] NM_033115,NM_001163435,NM_001163436,NM_001163437 TBCK,TBCK,TBCK,TBCK EXON Missense_K426N,Missense_K489N,Missense_K489N,Missense_K450N exm417477 4 107156462 [T/C] NM_033115,NM_001163435,NM_001163436,NM_001163437 TBCK,TBCK,TBCK,TBCK EXON Missense_M408I,Missense_M471I,Missense_M471I,Missense_M432I exm417487 4 107157623 [A/G] NM_033115,NM_001163435,NM_001163436,NM_001163437 TBCK,TBCK,TBCK,TBCK EXON Missense_T362M,Missense_T425M,Missense_T425M,Missense_T386M exm417489 4 107157935 [A/G] NM_033115,NM_001163435,NM_001163436,NM_001163437 TBCK,TBCK,TBCK,TBCK EXON Missense_Y338H,Missense_Y401H,Missense_Y401H,Missense_Y362H exm417490 4 107163647 [A/G] NM_033115,NM_001163435,NM_001163436,NM_001163437 TBCK,TBCK,TBCK,TBCK EXON Missense_S321P,Missense_S384P,Missense_S384P,Missense_S345P exm417492 4 107163667 [A/T] NM_033115,NM_001163435,NM_001163436,NM_001163437 TBCK,TBCK,TBCK,TBCK EXON Missense_D314V,Missense_D377V,Missense_D377V,Missense_D338V exm417497 4 107165912 [T/C] NM_033115,NM_001163435,NM_001163436,NM_001163437 TBCK,TBCK,TBCK,TBCK EXON Missense_N251S,Missense_N314S,Missense_N314S,Missense_N275S exm417498 4 107165918 [A/G] NM_033115,NM_001163435,NM_001163436,NM_001163437 TBCK,TBCK,TBCK,TBCK EXON Missense_I249T,Missense_I312T,Missense_I312T,Missense_I273T exm417499 4 107165919 [T/C] NM_033115,NM_001163435,NM_001163436,NM_001163437 TBCK,TBCK,TBCK,TBCK EXON Missense_I249V,Missense_I312V,Missense_I312V,Missense_I273V exm417503 4 107168372 [T/G] NM_033115,NM_001163435,NM_001163436,NM_001163437 TBCK,TBCK,TBCK,TBCK EXON Missense_K222N,Missense_K285N,Missense_K285N,Missense_K246N exm417505 4 107168431 [C/G] NM_033115,NM_001163435,NM_001163436,NM_001163437 TBCK,TBCK,TBCK,TBCK EXON Missense_Q203E,Missense_Q266E,Missense_Q266E,Missense_Q227E exm417514 4 107171575 [T/C] NM_033115,NM_001163435,NM_001163436,NM_001163437 TBCK,TBCK,TBCK,TBCK EXON Missense_D157N,Missense_D220N,Missense_D220N,Missense_D181N exm417525 4 107181616 [T/C] NM_033115,NM_001163435,NM_001163436,NM_001163437 TBCK,TBCK,TBCK,TBCK EXON Silent,Missense_D145N,Missense_D145N,Missense_D145N exm417527 4 107216291 [A/G] NM_033115,NM_001163435,NM_001163436,NM_001163437 TBCK,TBCK,TBCK,TBCK EXON Missense_R76C,Missense_R76C,Missense_R76C,Missense_R76C exm417546 4 107249244 [C/G] NM_001142415,NM_004757,NM_001142416 AIMP1,AIMP1,AIMP1 EXON Missense_P79A,Missense_P79A,Missense_P103A exm417552 4 107249319 [A/G] NM_001142415,NM_004757,NM_001142416 AIMP1,AIMP1,AIMP1 EXON Missense_T104A,Missense_T104A,Missense_T128A exm417553 4 107249332 [G/C] NM_001142415,NM_004757,NM_001142416 AIMP1,AIMP1,AIMP1 EXON Missense_G108A,Missense_G108A,Missense_G132A exm417554 4 107249358 [A/G] NM_001142415,NM_004757,NM_001142416 AIMP1,AIMP1,AIMP1 EXON Missense_T117A,Missense_T117A,Missense_T141A exm417556 4 107249372 [C/G] NM_001142415,NM_004757,NM_001142416 AIMP1,AIMP1,AIMP1 EXON Missense_K121N,Missense_K121N,Missense_K145N exm417563 4 107252981 [A/G] NM_001142415,NM_004757,NM_001142416 AIMP1,AIMP1,AIMP1 EXON Missense_G182R,Missense_G182R,Missense_G206R exm417566 4 107253029 [T/C] NM_001142415,NM_004757,NM_001142416 AIMP1,AIMP1,AIMP1 EXON Missense_P198S,Missense_P198S,Missense_P222S exm417586 4 107279386 [A/G] NM_001195138 GIMD1 EXON Missense_M203T exm417587 4 107279450 [T/C] NM_001195138 GIMD1 EXON Missense_V182I exm417588 4 107279482 [A/T] NM_001195138 GIMD1 EXON Missense_K171I exm2240286 4 107288414 [T/C] NM_001195138 GIMD1 EXON Missense_R60H exm2265861 4 107363636 [A/G] exm2256266 4 107418496 [A/G] exm2240288 4 107842959 [T/C] NM_014421 DKK2 EXON Silent exm417595 4 107845191 [T/C] NM_014421 DKK2 EXON Missense_A234T exm417601 4 107845749 [T/C] NM_014421 DKK2 EXON Missense_G161E exm417604 4 107845782 [T/C] NM_014421 DKK2 EXON Missense_R150Q exm417605 4 107845794 [T/C] NM_014421 DKK2 EXON Missense_R146Q exm417609 4 107845819 [A/G] NM_014421 DKK2 EXON Missense_H138Y exm417612 4 107846967 [T/C] NM_014421 DKK2 EXON Missense_R121H exm417617 4 107847043 [G/C] NM_014421 DKK2 EXON Missense_G96R exm417622 4 107956663 [A/C] NM_014421 DKK2 EXON Missense_G29V exm417626 4 107956729 [T/C] NM_014421 DKK2 EXON Missense_S7N exm-rs10516541 4 108115222 [A/G] exm2256268 4 108120442 [A/G] exm2269952 4 108148408 [T/C] exm417642 4 108552848 [A/G] NM_005443 PAPSS1 EXON Missense_P559S exm417643 4 108552883 [A/G] NM_005443 PAPSS1 EXON Missense_T547M exm417645 4 108552932 [C/G] NM_005443 PAPSS1 EXON Missense_E531Q exm417658 4 108566131 [A/G] NM_005443 PAPSS1 EXON Missense_R445W exm417665 4 108574710 [T/C] NM_005443 PAPSS1 EXON Missense_G392S exm417672 4 108575955 [A/G] NM_005443 PAPSS1 EXON Missense_R333C exm417681 4 108581146 [T/G] NM_005443 PAPSS1 EXON Missense_A251E exm2256270 4 108581223 [A/G] NM_005443 PAPSS1 EXON Synonymous_I225I exm417694 4 108608257 [T/C] NM_005443 PAPSS1 EXON Missense_H163R exm417699 4 108615007 [A/G] NM_005443 PAPSS1 EXON Nonsense_R111X exm2269953 4 108621483 [T/C] NM_005443 PAPSS1 Silent exm417721 4 108816771 [T/C] NM_001136258,NM_001136257,NM_152621 SGMS2,SGMS2,SGMS2 EXON Missense_T21M,Missense_T21M,Missense_T21M exm417723 4 108816870 [A/G] NM_001136258,NM_001136257,NM_152621 SGMS2,SGMS2,SGMS2 EXON Missense_K54R,Missense_K54R,Missense_K54R exm2063453 4 108824530 [T/C] NM_001136258,NM_001136257,NM_152621 SGMS2,SGMS2,SGMS2 EXON Missense_F239L,Missense_F239L,Missense_F239L exm417737 4 108829730 [A/G] NM_001136258,NM_001136257,NM_152621 SGMS2,SGMS2,SGMS2 EXON Missense_R246H,Missense_R246H,Missense_R246H exm417744 4 108829880 [A/G] NM_001136258,NM_001136257,NM_152621 SGMS2,SGMS2,SGMS2 EXON Missense_N296S,Missense_N296S,Missense_N296S exm417763 4 108853107 [T/C] NM_183075 CYP2U1 EXON Missense_P103L exm417771 4 108866306 [T/C] NM_183075 CYP2U1 EXON Missense_I224T exm417776 4 108866384 [A/C] NM_183075 CYP2U1 EXON Missense_K250T exm417785 4 108866627 [A/G] NM_183075 CYP2U1 EXON Missense_N331S exm2063463 4 108866639 [C/G] NM_183075 CYP2U1 EXON Missense_S335T exm417789 4 108868537 [A/G] NM_183075 CYP2U1 EXON Missense_V378I exm417791 4 108868556 [T/G] NM_183075 CYP2U1 EXON Missense_R384I exm417803 4 108870614 [A/G] NM_183075 CYP2U1 EXON Missense_R466Q exm417827 4 108931039 [T/C] NM_005327,NM_001184705 HADH,HADH EXON Missense_L86P,Missense_L86P exm417832 4 108935600 [T/G] NM_005327,NM_001184705 HADH,HADH EXON Missense_F92C,Missense_F92C exm417840 4 108940732 [T/G] NM_005327,NM_001184705 HADH,HADH EXON Missense_Q152H,Missense_Q152H exm417845 4 108948850 [A/C] NM_005327,NM_001184705 HADH,HADH EXON Missense_P215T,Missense_P215T exm417846 4 108948869 [A/G] NM_005327,NM_001184705 HADH,HADH EXON Missense_R221H,Missense_R221H exm417847 4 108948883 [T/C] NM_005327,NM_001184705 HADH,HADH EXON Missense_Y226H,Missense_Y226H exm417849 4 108953487 [C/G] NM_005327,NM_001184705 HADH,HADH EXON Silent,Missense_F238L exm417850 4 108953492 [T/C] NM_005327,NM_001184705 HADH,HADH EXON Silent,Missense_T240M exm417858 4 108955449 [A/G] NM_005327,NM_001184705 HADH,HADH EXON Missense_N294S,Missense_N311S exm417861 4 108969836 [T/C] NM_001130714,NM_001166119,NM_001130713,NM_016269 LEF1,LEF1,LEF1,LEF1 EXON Missense_A385T,Silent,Silent,Silent exm417863 4 108969883 [A/G] NM_001130714,NM_001166119,NM_001130713,NM_016269 LEF1,LEF1,LEF1,LEF1 EXON Missense_T369M,Silent,Silent,Silent exm417864 4 108969898 [T/C] NM_001130714,NM_001166119,NM_001130713,NM_016269 LEF1,LEF1,LEF1,LEF1 EXON Missense_R364Q,Silent,Silent,Silent exm417867 4 108984819 [T/C] NM_001130714,NM_001166119,NM_001130713,NM_016269 LEF1,LEF1,LEF1,LEF1 EXON Silent,Missense_G293D,Missense_G361D,Missense_G389D exm417884 4 109000649 [T/C] NM_001130714,NM_001166119,NM_001130713,NM_016269 LEF1,LEF1,LEF1,LEF1 EXON Missense_V254M,Missense_V186M,Missense_V254M,Missense_V282M exm417892 4 109004600 [T/G] NM_001130714,NM_001166119,NM_001130713,NM_016269 LEF1,LEF1,LEF1,LEF1 EXON Missense_M184L,Missense_M116L,Missense_M184L,Missense_M184L exm417897 4 109010339 [A/C] NM_001130714,NM_001166119,NM_001130713,NM_016269 LEF1,LEF1,LEF1,LEF1 EXON Missense_E163D,Missense_E95D,Missense_E163D,Missense_E163D exm417899 4 109010395 [A/C] NM_001130714,NM_001166119,NM_001130713,NM_016269 LEF1,LEF1,LEF1,LEF1 EXON Missense_V145L,Missense_V77L,Missense_V145L,Missense_V145L exm2269816 4 109066366 [T/C] NM_001130714,NM_001166119,NM_001130713,NM_016269 LEF1,LEF1,LEF1,LEF1 Silent,Silent,Silent,Silent exm417903 4 109084731 [A/G] NM_001130714,NM_001166119,NM_001130713,NM_016269 LEF1,LEF1,LEF1,LEF1 EXON Missense_P136L,Missense_P68L,Missense_P136L,Missense_P136L exm2063528 4 109084821 [A/G] NM_001130714,NM_001166119,NM_001130713,NM_016269 LEF1,LEF1,LEF1,LEF1 EXON Missense_P106L,Missense_P38L,Missense_P106L,Missense_P106L exm417910 4 109086254 [A/G] NM_001130714,NM_001166119,NM_001130713,NM_016269 LEF1,LEF1,LEF1,LEF1 EXON Synonymous_D93D,Synonymous_D25D,Synonymous_D93D,Synonymous_D93D exm417912 4 109086280 [T/C] NM_001130714,NM_001166119,NM_001130713,NM_016269 LEF1,LEF1,LEF1,LEF1 EXON Missense_D85N,Missense_D17N,Missense_D85N,Missense_D85N exm2240300 4 109087430 [T/C] NM_001130714,NM_001166119,NM_001130713,NM_016269 LEF1,LEF1,LEF1,LEF1 EXON Silent,Missense_E3K,Silent,Silent exm417915 4 109087433 [A/C] NM_001130714,NM_001166119,NM_001130713,NM_016269 LEF1,LEF1,LEF1,LEF1 EXON Silent,Missense_A2S,Silent,Silent exm417917 4 109088713 [C/G] NM_001130714,NM_001130713,NM_016269,NR_029374 LEF1,LEF1,LEF1,LEF1-AS1 EXON Missense_E71Q,Missense_E71Q,Missense_E71Q,Silent exm-rs1562975 4 109408608 [A/G] exm417931 4 109543360 [T/G] NM_000995,NM_033625 RPL34,RPL34 EXON Synonymous_G55G,Synonymous_G55G exm2256272 4 109576757 [T/C] NM_021227,NM_001267817,NM_001267818 OSTC,OSTC,OSTC EXON Synonymous_V59V,Synonymous_V59V,Synonymous_V59V exm417959 4 109588403 [A/G] NM_021227,NM_001267817,NM_001267818 OSTC,OSTC,OSTC EXON Synonymous_P144P,Synonymous_R78R,Missense_G169E exm2269954 4 109636348 [T/C] exm417963 4 109663672 [A/G] NM_001146590,NR_027475,NM_031279,NM_001146627,NR_027474 AGXT2L1,AGXT2L1,AGXT2L1,AGXT2L1,AGXT2L1 EXON Missense_H484Y,Silent,Missense_H490Y,Missense_H518Y,Silent exm417968 4 109663758 [T/G] NM_001146590,NR_027475,NM_031279,NM_001146627,NR_027474 AGXT2L1,AGXT2L1,AGXT2L1,AGXT2L1,AGXT2L1 EXON Missense_E455A,Silent,Missense_E461A,Missense_E489A,Silent exm417974 4 109667585 [T/C] NM_001146590,NR_027475,NM_031279,NM_001146627,NR_027474 AGXT2L1,AGXT2L1,AGXT2L1,AGXT2L1,AGXT2L1 EXON Missense_M419V,Silent,Missense_M425V,Missense_M453V,Silent exm417980 4 109667686 [T/C] NM_001146590,NR_027475,NM_031279,NM_001146627,NR_027474 AGXT2L1,AGXT2L1,AGXT2L1,AGXT2L1,AGXT2L1 Silent,Silent,Silent,Silent,Silent exm417981 4 109667954 [A/G] NM_001146590,NR_027475,NM_031279,NM_001146627,NR_027474 AGXT2L1,AGXT2L1,AGXT2L1,AGXT2L1,AGXT2L1 EXON Missense_T373I,Silent,Missense_T379I,Missense_T407I,Silent exm417990 4 109670434 [C/G] NM_001146590,NR_027475,NM_031279,NM_001146627,NR_027474 AGXT2L1,AGXT2L1,AGXT2L1,AGXT2L1,AGXT2L1 EXON Missense_A290G,Silent,Missense_A296G,Missense_A324G,Silent exm417998 4 109670609 [T/C] NM_001146590,NR_027475,NM_031279,NM_001146627,NR_027474 AGXT2L1,AGXT2L1,AGXT2L1,AGXT2L1,AGXT2L1 EXON Missense_G232S,Silent,Missense_G238S,Missense_G266S,Silent exm418008 4 109674116 [A/G] NM_001146590,NR_027475,NM_031279,NM_001146627,NR_027474 AGXT2L1,AGXT2L1,AGXT2L1,AGXT2L1,AGXT2L1 EXON Missense_S179P,Silent,Missense_S185P,Missense_S213P,Silent exm418013 4 109675843 [A/G] NM_001146590,NR_027475,NM_031279,NM_001146627,NR_027474 AGXT2L1,AGXT2L1,AGXT2L1,AGXT2L1,AGXT2L1 EXON Missense_S139F,Silent,Missense_S145F,Missense_S173F,Silent exm418014 4 109677604 [T/C] NM_001146590,NR_027475,NM_031279,NM_001146627,NR_027474 AGXT2L1,AGXT2L1,AGXT2L1,AGXT2L1,AGXT2L1 EXON Missense_R121K,Silent,Missense_R127K,Missense_R155K,Silent exm418027 4 109681461 [T/G] NM_001146590,NR_027475,NM_031279,NM_001146627,NR_027474 AGXT2L1,AGXT2L1,AGXT2L1,AGXT2L1,AGXT2L1 EXON Missense_P20T,Silent,Missense_P20T,Silent,Silent exm-rs4956211 4 109723126 [A/G] exm418041 4 109745254 [A/G] NR_045756,NM_198721,NM_001256074,NM_032518 COL25A1,COL25A1,COL25A1,COL25A1 EXON Silent,Silent,Missense_S644P,Missense_S641P exm2269817 4 109754899 [T/C] NR_045756,NM_198721,NM_001256074,NM_032518 COL25A1,COL25A1,COL25A1,COL25A1 Silent,Silent,Silent,Silent exm418054 4 109762862 [A/G] NR_045756,NM_198721,NM_001256074,NM_032518 COL25A1,COL25A1,COL25A1,COL25A1 EXON Silent,Missense_P549S,Missense_P522S,Missense_P549S exm418061 4 109767296 [A/G] NR_045756,NM_198721,NM_001256074,NM_032518 COL25A1,COL25A1,COL25A1,COL25A1 EXON Silent,Missense_P505L,Missense_P478L,Missense_P505L exm418071 4 109780843 [T/C] NR_045756,NM_198721,NM_001256074,NM_032518 COL25A1,COL25A1,COL25A1,COL25A1 EXON Silent,Missense_D430G,Missense_D411G,Missense_D430G exm418083 4 109790290 [A/G] NR_045756,NM_198721,NM_001256074,NM_032518 COL25A1,COL25A1,COL25A1,COL25A1 EXON Silent,Missense_I346T,Missense_I342T,Missense_I346T exm418089 4 109810400 [C/G] NR_045756,NM_198721,NM_001256074,NM_032518 COL25A1,COL25A1,COL25A1,COL25A1 EXON Silent,Missense_E318Q,Missense_E314Q,Missense_E318Q exm418102 4 109858976 [T/G] NR_045756,NM_198721,NM_001256074,NM_032518 COL25A1,COL25A1,COL25A1,COL25A1 EXON Silent,Missense_E232D,Missense_E228D,Missense_E232D exm418129 4 109971282 [A/G] NR_045756,NM_198721,NM_001256074,NM_032518 COL25A1,COL25A1,COL25A1,COL25A1 Silent,Silent,Silent,Silent exm2269818 4 110185039 [T/C] NR_045756,NM_198721,NM_001256074,NM_032518 COL25A1,COL25A1,COL25A1,COL25A1 Silent,Silent,Silent,Silent exm418144 4 110223025 [A/G] NR_045756,NM_198721,NM_001256074,NM_032518 COL25A1,COL25A1,COL25A1,COL25A1 EXON Silent,Missense_Y51H,Missense_Y51H,Missense_Y51H exm418145 4 110223046 [T/C] NR_045756,NM_198721,NM_001256074,NM_032518 COL25A1,COL25A1,COL25A1,COL25A1 EXON Silent,Missense_V44M,Missense_V44M,Missense_V44M exm2269955 4 110370867 [T/C] NM_001042734,NM_006323 SEC24B,SEC24B Silent,Silent exm2063645 4 110384078 [A/C] NM_001042734,NM_006323 SEC24B,SEC24B EXON Missense_Q52P,Missense_Q52P exm418165 4 110384497 [A/G] NM_001042734,NM_006323 SEC24B,SEC24B EXON Missense_A192T,Missense_A192T exm418169 4 110384522 [G/C] NM_001042734,NM_006323 SEC24B,SEC24B EXON Missense_S200C,Missense_S200C exm418172 4 110384603 [T/C] NM_001042734,NM_006323 SEC24B,SEC24B EXON Missense_F227S,Missense_F227S exm418173 4 110384624 [T/C] NM_001042734,NM_006323 SEC24B,SEC24B EXON Missense_I234T,Missense_I234T exm418180 4 110384735 [A/C] NM_001042734,NM_006323 SEC24B,SEC24B EXON Missense_Q271P,Missense_Q271P exm418184 4 110394162 [A/G] NM_001042734,NM_006323 SEC24B,SEC24B EXON Missense_A294T,Missense_A294T exm418191 4 110394261 [A/G] NM_001042734,NM_006323 SEC24B,SEC24B EXON Missense_T327A,Missense_T327A exm418206 4 110415840 [T/C] NM_001042734,NM_006323 SEC24B,SEC24B EXON Missense_P404L,Missense_P439L exm418208 4 110415869 [A/G] NM_001042734,NM_006323 SEC24B,SEC24B EXON Missense_V414I,Missense_V449I exm418213 4 110415926 [T/C] NM_001042734,NM_006323 SEC24B,SEC24B EXON Missense_P433S,Missense_P468S exm418214 4 110415975 [G/C] NM_001042734,NM_006323 SEC24B,SEC24B EXON Missense_S449T,Missense_S484T exm418235 4 110434993 [T/G] NM_001042734,NM_006323 SEC24B,SEC24B EXON Missense_I630S,Missense_I665S exm418237 4 110437762 [A/G] NM_001042734,NM_006323 SEC24B,SEC24B EXON Missense_I663V,Missense_I698V exm418240 4 110441587 [A/G] NM_001042734,NM_006323 SEC24B,SEC24B EXON Missense_N696S,Missense_N731S exm418241 4 110441604 [T/G] NM_001042734,NM_006323 SEC24B,SEC24B EXON Missense_S702A,Missense_S737A exm418255 4 110446016 [T/C] NM_001042734,NM_006323 SEC24B,SEC24B EXON Missense_L816F,Missense_L851F exm418261 4 110447390 [A/G] NM_001042734,NM_006323 SEC24B,SEC24B EXON Missense_M899V,Missense_M934V exm418266 4 110448537 [A/G] NM_001042734,NM_006323 SEC24B,SEC24B EXON Missense_V974I,Missense_V1009I exm418271 4 110451520 [T/C] NM_001042734,NM_006323 SEC24B,SEC24B EXON Missense_S1016F,Missense_S1051F exm418272 4 110451525 [T/C] NM_001042734,NM_006323 SEC24B,SEC24B EXON Missense_Y1018H,Missense_Y1053H exm418277 4 110452542 [A/T] NM_001042734,NM_006323 SEC24B,SEC24B EXON Missense_K1050I,Missense_K1085I exm418281 4 110453853 [T/C] NM_001042734,NM_006323 SEC24B,SEC24B EXON Missense_A1115V,Missense_A1150V exm418290 4 110459736 [A/G] NM_001042734,NM_006323 SEC24B,SEC24B EXON Missense_I1191V,Missense_I1226V exm418297 4 110581363 [T/A] NM_017918 CCDC109B EXON Missense_I63N exm2063694 4 110581399 [T/C] NM_017918 CCDC109B EXON Missense_L75S exm418301 4 110581470 [A/G] NM_017918 CCDC109B EXON Missense_D99N exm-rs4698775 4 110590479 [T/G] NM_017918 CCDC109B Silent exm418307 4 110603744 [T/C] NM_017918 CCDC109B EXON Missense_P153L exm418317 4 110605624 [T/C] NM_017918 CCDC109B EXON Missense_S213L exm2063707 4 110605702 [A/C] NM_017918 CCDC109B EXON Missense_T239K exm418321 4 110605744 [A/T] NM_017918 CCDC109B EXON Missense_Y253F exm418322 4 110605749 [A/G] NM_017918 CCDC109B EXON Missense_I255V exm418323 4 110605767 [A/G] NM_017918 CCDC109B EXON Missense_M261V exm418325 4 110605798 [A/G] NM_017918 CCDC109B EXON Missense_R271Q exm418329 4 110608696 [A/G] NM_017918 CCDC109B EXON Missense_R320H exm418344 4 110612105 [T/A] NM_001226,NM_032992 CASP6,CASP6 EXON Missense_T182S,Missense_T93S exm418351 4 110615839 [T/C] NM_001226,NM_032992 CASP6,CASP6 EXON Missense_A109T,Missense_A20T exm418359 4 110618790 [T/G] NM_001226,NM_032992 CASP6,CASP6 EXON Missense_N73T,Silent exm418388 4 110638764 [A/G] NM_030821 PLA2G12A EXON Missense_C131R exm418398 4 110638865 [T/C] NM_030821 PLA2G12A EXON Missense_N97S exm418399 4 110638871 [A/T] NM_030821 PLA2G12A Silent exm-rs10033900 4 110659067 [T/C] exm418413 4 110662092 [G/C] NM_000204 CFI EXON Missense_S570T exm418414 4 110662144 [A/G] NM_000204 CFI EXON Missense_P553S exm2256276 4 110662220 [A/G] NM_000204 CFI EXON Synonymous_G527G exm2256277 4 110662253 [A/G] NM_000204 CFI EXON Synonymous_G516G exm418426 4 110667387 [A/G] NM_000204 CFI EXON Nonsense_R474X exm418433 4 110667464 [T/C] NM_000204 CFI EXON Missense_R448H exm418435 4 110667485 [T/C] NM_000204 CFI EXON Missense_K441R exm418438 4 110667561 [T/G] NM_000204 CFI EXON Missense_I416L exm418440 4 110667590 [T/C] NM_000204 CFI EXON Missense_R406H exm418448 4 110670451 [A/C] NM_000204 CFI EXON Missense_I357M exm418449 4 110670458 [A/C] NM_000204 CFI EXON Missense_V355G exm418457 4 110670750 [A/G] NM_000204 CFI EXON Missense_R317W exm418459 4 110673648 [T/C] NM_000204 CFI EXON Missense_I306V exm418463 4 110678925 [T/C] NM_000204 CFI EXON Missense_T300A exm418469 4 110681521 [A/C] NM_000204 CFI EXON Missense_G263V exm418470 4 110681527 [T/C] NM_000204 CFI EXON Missense_G261D exm418472 4 110681679 [T/C] NM_000204 CFI EXON Missense_A258T exm418482 4 110682723 [A/G] NM_000204 CFI EXON Missense_T203I exm2063770 4 110682728 [T/G] NM_000204 CFI EXON Missense_R201S exm418485 4 110682771 [T/C] NM_000204 CFI EXON Missense_R187Q exm418486 4 110682783 [T/C] NM_000204 CFI EXON Missense_H183R exm418490 4 110682827 [A/C] NM_000204 CFI EXON Missense_R168S exm418491 4 110682829 [T/C] NM_000204 CFI EXON Missense_R168G exm418501 4 110685820 [T/C] NM_000204 CFI EXON Missense_G119R exm418505 4 110687719 [T/C] NM_000204 CFI EXON Missense_T107A exm418540 4 110737403 [T/A] NM_018983,NM_032993 GAR1,GAR1 EXON Missense_H28L,Missense_H28L exm418550 4 110739212 [A/G] NM_018983,NM_032993 GAR1,GAR1 EXON Missense_K112R,Missense_K112R exm418560 4 110743643 [T/C] NM_018983,NM_032993 GAR1,GAR1 EXON Synonymous_G190G,Synonymous_G190G exm418573 4 110749236 [T/C] NM_006583 RRH EXON Missense_S18L exm418589 4 110756579 [A/G] NM_006583 RRH EXON Missense_V119M exm2240317 4 110756594 [T/A] NM_006583 RRH EXON Missense_Y124N exm418597 4 110757188 [A/C] NM_006583 RRH EXON Nonsense_Y141X exm418605 4 110758625 [T/C] NM_006583 RRH EXON Missense_A195V exm418606 4 110758673 [A/G] NM_006583 RRH EXON Missense_H211R exm418612 4 110763646 [A/G] NM_006583 RRH EXON Missense_M248V exm418615 4 110763725 [G/C] NM_006583 RRH EXON Missense_P274R exm418618 4 110763764 [T/C] NM_006583 RRH EXON Missense_T287I exm418620 4 110765243 [T/C] NM_006583 RRH EXON Missense_R302W exm418621 4 110765244 [A/G] NM_006583 RRH EXON Missense_R302Q exm418632 4 110772701 [T/C] NM_198506 LRIT3 EXON Missense_T53M exm418638 4 110772922 [T/G] NM_198506 LRIT3 EXON Missense_D127Y exm418639 4 110772947 [T/A] NM_198506 LRIT3 EXON Missense_D135V exm418641 4 110773048 [A/C] NM_198506 LRIT3 EXON Missense_P169T exm418643 4 110773067 [A/G] NM_198506 LRIT3 EXON Missense_S175N exm418644 4 110773108 [T/C] NM_198506 LRIT3 EXON Missense_L189F exm418649 4 110788917 [A/G] NM_198506 LRIT3 EXON Missense_R237H exm418656 4 110789102 [C/G] NM_198506 LRIT3 EXON Missense_V299L exm418664 4 110790911 [T/A] NM_198506 LRIT3 EXON Missense_M336L exm418666 4 110790951 [T/C] NM_198506 LRIT3 EXON Missense_T349I exm418675 4 110791064 [T/G] NM_198506 LRIT3 EXON Missense_W387G exm418688 4 110791178 [A/C] NM_198506 LRIT3 EXON Missense_T425P exm418689 4 110791191 [A/G] NM_198506 LRIT3 EXON Missense_S429N exm418691 4 110791221 [A/G] NM_198506 LRIT3 EXON Missense_K439R exm418695 4 110791347 [T/C] NM_198506 LRIT3 EXON Missense_T481M exm418696 4 110791350 [A/C] NM_198506 LRIT3 EXON Missense_E482A exm418698 4 110791361 [A/G] NM_198506 LRIT3 EXON Missense_A486T exm418699 4 110791413 [T/C] NM_198506 LRIT3 EXON Missense_T503M exm418707 4 110791526 [A/G] NM_198506 LRIT3 EXON Missense_I541V exm-rs17316633 4 110825634 [A/G] exm418722 4 110834537 [A/C] NM_001963,NM_001178130,NM_001178131 EGF,EGF,EGF EXON Missense_S16R,Missense_S16R,Missense_S16R exm418723 4 110834538 [C/G] NM_001963,NM_001178130,NM_001178131 EGF,EGF,EGF EXON Missense_S16T,Missense_S16T,Missense_S16T exm418734 4 110864530 [A/T] NM_001963,NM_001178130,NM_001178131 EGF,EGF,EGF EXON Missense_S150T,Missense_S150T,Missense_S150T exm418735 4 110864533 [T/C] NM_001963,NM_001178130,NM_001178131 EGF,EGF,EGF EXON Missense_H151Y,Missense_H151Y,Missense_H151Y exm418736 4 110864546 [A/G] NM_001963,NM_001178130,NM_001178131 EGF,EGF,EGF EXON Missense_S155N,Missense_S155N,Missense_S155N exm418747 4 110865150 [C/G] NM_001963,NM_001178130,NM_001178131 EGF,EGF,EGF EXON Missense_R221T,Missense_R221T,Missense_R221T exm418752 4 110866260 [C/G] NM_001963,NM_001178130,NM_001178131 EGF,EGF,EGF EXON Missense_D257H,Missense_D257H,Missense_D257H exm418756 4 110866366 [T/A] NM_001963,NM_001178130,NM_001178131 EGF,EGF,EGF EXON Missense_L292H,Missense_L292H,Missense_L292H exm418767 4 110882053 [A/G] NM_001963,NM_001178130,NM_001178131 EGF,EGF,EGF EXON Missense_G366D,Missense_G366D,Missense_G324D exm418771 4 110882145 [T/C] NM_001963,NM_001178130,NM_001178131 EGF,EGF,EGF EXON Nonsense_Q397X,Nonsense_Q397X,Nonsense_Q355X exm418775 4 110883121 [A/G] NM_001963,NM_001178130,NM_001178131 EGF,EGF,EGF EXON Missense_R431K,Missense_R431K,Missense_R389K exm418782 4 110884383 [A/C] NM_001963,NM_001178130,NM_001178131 EGF,EGF,EGF EXON Missense_P456Q,Missense_P456Q,Missense_P414Q exm2256278 4 110884420 [T/C] NM_001963,NM_001178130,NM_001178131 EGF,EGF,EGF EXON Synonymous_D468D,Synonymous_D468D,Synonymous_D426D exm418785 4 110884432 [A/T] NM_001963,NM_001178130,NM_001178131 EGF,EGF,EGF EXON Missense_D472E,Missense_D472E,Missense_D430E exm2063867 4 110885619 [A/G] NM_001963,NM_001178130,NM_001178131 EGF,EGF,EGF EXON Missense_T501A,Missense_T501A,Missense_T459A exm418796 4 110890274 [A/G] NM_001963,NM_001178130,NM_001178131 EGF,EGF,EGF EXON Missense_G575R,Missense_G575R,Missense_G533R exm418800 4 110895923 [A/G] NM_001963,NM_001178130,NM_001178131 EGF,EGF,EGF EXON Missense_I597V,Missense_I597V,Missense_I555V exm418806 4 110897229 [T/C] NM_001963,NM_001178130,NM_001178131 EGF,EGF,EGF EXON Missense_L631F,Missense_L631F,Missense_L589F exm418815 4 110901198 [A/G] NM_001963,NM_001178130,NM_001178131 EGF,EGF,EGF EXON Missense_M708I,Missense_M708I,Missense_M666I exm418820 4 110901983 [A/G] NM_001963,NM_001178130,NM_001178131 EGF,EGF,EGF EXON Synonymous_G741G,Synonymous_G741G,Synonymous_G699G exm418827 4 110902111 [T/A] NM_001963,NM_001178130,NM_001178131 EGF,EGF,EGF EXON Missense_D784V,Missense_D784V,Missense_D742V exm418836 4 110908933 [T/C] NM_001963,NM_001178130,NM_001178131 EGF,EGF,EGF EXON Missense_M842T,Missense_M842T,Missense_M800T exm418837 4 110908942 [A/G] NM_001963,NM_001178130,NM_001178131 EGF,EGF,EGF EXON Missense_R845Q,Missense_R845Q,Missense_R803Q exm418843 4 110909805 [A/G] NM_001963,NM_001178130,NM_001178131 EGF,EGF,EGF EXON Missense_E892K,Missense_E892K,Missense_E850K exm418845 4 110914427 [T/A] NM_001963,NM_001178130,NM_001178131 EGF,EGF,EGF EXON Missense_E920V,Silent,Missense_E878V exm418847 4 110914495 [T/C] NM_001963,NM_001178130,NM_001178131 EGF,EGF,EGF EXON Missense_R943C,Silent,Missense_R901C exm418852 4 110915974 [A/T] NM_001963,NM_001178130,NM_001178131 EGF,EGF,EGF EXON Missense_D981E,Missense_D940E,Missense_D939E exm418862 4 110920947 [A/G] NM_001963,NM_001178130,NM_001178131 EGF,EGF,EGF EXON Missense_V1040M,Missense_V999M,Missense_V998M exm418864 4 110920956 [T/C] NM_001963,NM_001178130,NM_001178131 EGF,EGF,EGF EXON Missense_L1043F,Missense_L1002F,Missense_L1001F exm418870 4 110925696 [T/C] NM_001963,NM_001178130,NM_001178131 EGF,EGF,EGF EXON Missense_P1070L,Missense_P1029L,Missense_P1028L exm418872 4 110925738 [G/C] NM_001963,NM_001178130,NM_001178131 EGF,EGF,EGF EXON Missense_A1084G,Missense_A1043G,Missense_A1042G exm418879 4 110929374 [T/C] NM_001963,NM_001178130,NM_001178131 EGF,EGF,EGF EXON Nonsense_Q1120X,Nonsense_Q1079X,Nonsense_Q1078X exm418883 4 110932508 [A/C] NM_001963,NM_001178130,NM_001178131 EGF,EGF,EGF EXON Missense_T1174N,Missense_T1133N,Missense_T1132N exm418884 4 110932517 [C/G] NM_001963,NM_001178130,NM_001178131 EGF,EGF,EGF EXON Missense_G1177A,Missense_G1136A,Missense_G1135A exm2261582 4 110940045 [T/C] exm418892 4 110972529 [T/C] NM_001130721,NM_024090 ELOVL6,ELOVL6 EXON Missense_I255V,Missense_I255V exm-rs10011926 4 111026927 [T/C] NM_001130721,NM_024090 ELOVL6,ELOVL6 Silent,Silent exm2265744 4 111055435 [A/G] NM_001130721,NM_024090 ELOVL6,ELOVL6 Silent,Silent exm-rs6825911 4 111381638 [T/C] exm418912 4 111397628 [A/G] NM_001977 ENPEP EXON Missense_A20T exm418915 4 111397664 [A/G] NM_001977 ENPEP EXON Missense_I32V exm418938 4 111398207 [T/C] NM_001977 ENPEP EXON Nonsense_Q213X exm418939 4 111398208 [A/G] NM_001977 ENPEP EXON Missense_Q213R exm418960 4 111430926 [A/G] NM_001977 ENPEP EXON Missense_R386K exm418961 4 111430963 [A/G] NM_001977 ENPEP EXON Synonymous_Q398Q exm418963 4 111431444 [A/G] NM_001977 ENPEP EXON Nonsense_W413X exm418965 4 111434571 [A/C] NM_001977 ENPEP EXON Missense_R437S exm418966 4 111434572 [A/G] NM_001977 ENPEP EXON Missense_R437H exm418970 4 111434683 [T/C] NM_001977 ENPEP EXON Missense_F474S exm418975 4 111441371 [C/G] NM_001977 ENPEP EXON Missense_A526P exm418979 4 111441426 [A/T] NM_001977 ENPEP EXON Missense_Y544F exm418985 4 111441503 [T/C] NM_001977 ENPEP EXON Nonsense_Q570X exm2256280 4 111445587 [A/G] NM_001977 ENPEP Silent exm418990 4 111463967 [A/G] NM_001977 ENPEP EXON Missense_H623R exm2063953 4 111470684 [A/G] NM_001977 ENPEP EXON Synonymous_K742K exm419017 4 111470871 [A/G] NM_001977 ENPEP Silent exm419018 4 111470904 [T/G] NM_001977 ENPEP EXON Missense_R788L exm419024 4 111474532 [T/C] NM_001977 ENPEP EXON Nonsense_R855X exm419026 4 111474552 [A/C] NM_001977 ENPEP EXON Missense_S861R exm419028 4 111474611 [A/G] NM_001977 ENPEP EXON Missense_R881K exm419033 4 111482613 [A/G] NM_001977 ENPEP EXON Missense_R925G exm419035 4 111482692 [T/C] NM_001977 ENPEP EXON Missense_F951S exm419051 4 111539637 [T/C] NM_153426,NM_153427,NM_001204397,NM_000325,NM_001204399,NM_001204398 PITX2,PITX2,PITX2,PITX2,PITX2,PITX2 EXON Missense_M200V,Missense_M154V,Missense_M200V,Missense_M207V,Missense_M154V,Missense_M200V exm419071 4 111543496 [A/G] NM_153426,NM_153427,NM_001204397,NM_000325,NM_001204399,NM_001204398 PITX2,PITX2,PITX2,PITX2,PITX2,PITX2 EXON Silent,Silent,Silent,Missense_P41S,Silent,Silent exm-rs17042171 4 111708287 [A/C] exm-rs2200733 4 111710169 [T/C] exm-rs6843082 4 111718067 [A/G] exm-rs10033464 4 111720761 [T/G] exm-rs723363 4 111724501 [T/C] exm2265862 4 111968478 [A/G] exm2269819 4 112003371 [T/C] exm2269820 4 112591777 [T/C] exm-rs10034228 4 112611750 [T/C] exm-rs1585471 4 112702635 [A/G] exm-rs17589290 4 112923237 [G/C] exm2261585 4 113001776 [T/C] exm419104 4 113108007 [A/C] NM_152400 C4orf32 EXON Missense_F104L exm419106 4 113108065 [T/G] NM_152400 C4orf32 EXON Missense_C124G exm419117 4 113175916 [T/C] NM_001128426,NM_018569 AP1AR,AP1AR EXON Missense_V49A,Missense_V49A exm419134 4 113186198 [T/C] NM_001128426,NM_018569 AP1AR,AP1AR EXON Missense_P106S,Missense_P139S exm419143 4 113187818 [A/G] NM_001128426,NM_018569 AP1AR,AP1AR EXON Missense_T164A,Missense_T197A exm419152 4 113189482 [A/G] NM_001128426,NM_018569 AP1AR,AP1AR EXON Missense_E243K,Missense_E276K exm419154 4 113189546 [T/C] NM_001128426,NM_018569 AP1AR,AP1AR EXON Missense_T264I,Missense_T297I exm419160 4 113199046 [A/G] NM_052864 TIFA EXON Missense_P176L exm419166 4 113199131 [G/C] NM_052864 TIFA EXON Missense_L148V exm419167 4 113199143 [A/G] NM_052864 TIFA EXON Missense_S144P exm419171 4 113199224 [T/C] NM_052864 TIFA EXON Missense_V117I exm2274043 4 113199391 [T/C] NM_052864 TIFA EXON Missense_Q61R exm419180 4 113199517 [A/G] NM_052864 TIFA EXON Missense_T19M exm419193 4 113303616 [A/G] NM_001102406,NM_001253884,NM_025144 ALPK1,ALPK1,ALPK1 EXON Missense_V62M,Silent,Missense_V62M exm419194 4 113303632 [A/G] NM_001102406,NM_001253884,NM_025144 ALPK1,ALPK1,ALPK1 EXON Missense_Q67R,Silent,Missense_Q67R exm2264064 4 113328669 [A/C] NM_001102406,NM_001253884,NM_025144 ALPK1,ALPK1,ALPK1 Silent,Silent,Silent exm419209 4 113345147 [A/G] NM_001102406,NM_001253884,NM_025144 ALPK1,ALPK1,ALPK1 EXON Missense_N175D,Missense_N97D,Missense_N175D exm419211 4 113346846 [T/G] NM_001102406,NM_001253884,NM_025144 ALPK1,ALPK1,ALPK1 EXON Missense_S187R,Missense_S109R,Missense_S187R exm419226 4 113350387 [A/C] NM_001102406,NM_001253884,NM_025144 ALPK1,ALPK1,ALPK1 EXON Missense_P293Q,Missense_P215Q,Missense_P293Q exm419236 4 113351809 [T/A] NM_001102406,NM_001253884,NM_025144 ALPK1,ALPK1,ALPK1 EXON Missense_H369L,Missense_H291L,Missense_H369L exm419240 4 113351850 [A/G] NM_001102406,NM_001253884,NM_025144 ALPK1,ALPK1,ALPK1 EXON Missense_K383E,Missense_K305E,Missense_K383E exm419241 4 113352014 [C/G] NM_001102406,NM_001253884,NM_025144 ALPK1,ALPK1,ALPK1 EXON Missense_F437L,Missense_F359L,Missense_F437L exm419244 4 113352075 [A/G] NM_001102406,NM_001253884,NM_025144 ALPK1,ALPK1,ALPK1 EXON Missense_T458A,Missense_T380A,Missense_T458A exm419247 4 113352194 [A/G] NM_001102406,NM_001253884,NM_025144 ALPK1,ALPK1,ALPK1 EXON Missense_I497M,Missense_I419M,Missense_I497M exm419248 4 113352214 [A/G] NM_001102406,NM_001253884,NM_025144 ALPK1,ALPK1,ALPK1 EXON Missense_S504N,Missense_S426N,Missense_S504N exm419249 4 113352272 [A/G] NM_001102406,NM_001253884,NM_025144 ALPK1,ALPK1,ALPK1 EXON Missense_M523I,Missense_M445I,Missense_M523I exm419255 4 113352397 [A/G] NM_001102406,NM_001253884,NM_025144 ALPK1,ALPK1,ALPK1 EXON Missense_G565D,Missense_G487D,Missense_G565D exm419256 4 113352446 [A/T] NM_001102406,NM_001253884,NM_025144 ALPK1,ALPK1,ALPK1 EXON Missense_S581R,Missense_S503R,Missense_S581R exm419258 4 113352488 [A/G] NM_001102406,NM_001253884,NM_025144 ALPK1,ALPK1,ALPK1 EXON Nonsense_W595X,Nonsense_W517X,Nonsense_W595X exm419259 4 113352507 [A/G] NM_001102406,NM_001253884,NM_025144 ALPK1,ALPK1,ALPK1 EXON Missense_V602I,Missense_V524I,Missense_V602I exm419266 4 113352568 [T/C] NM_001102406,NM_001253884,NM_025144 ALPK1,ALPK1,ALPK1 EXON Missense_S622F,Missense_S544F,Missense_S622F exm419267 4 113352578 [T/G] NM_001102406,NM_001253884,NM_025144 ALPK1,ALPK1,ALPK1 EXON Missense_L625F,Missense_L547F,Missense_L625F exm2064033 4 113352597 [C/G] NM_001102406,NM_001253884,NM_025144 ALPK1,ALPK1,ALPK1 EXON Missense_D632H,Missense_D554H,Missense_D632H exm419270 4 113352628 [A/G] NM_001102406,NM_001253884,NM_025144 ALPK1,ALPK1,ALPK1 EXON Missense_H642R,Missense_H564R,Missense_H642R exm419271 4 113352644 [T/G] NM_001102406,NM_001253884,NM_025144 ALPK1,ALPK1,ALPK1 EXON Missense_D647E,Missense_D569E,Missense_D647E exm2240328 4 113352682 [T/C] NM_001102406,NM_001253884,NM_025144 ALPK1,ALPK1,ALPK1 EXON Missense_P660L,Missense_P582L,Missense_P660L exm419275 4 113352745 [A/G] NM_001102406,NM_001253884,NM_025144 ALPK1,ALPK1,ALPK1 EXON Missense_G681D,Missense_G603D,Missense_G681D exm419277 4 113352832 [T/C] NM_001102406,NM_001253884,NM_025144 ALPK1,ALPK1,ALPK1 EXON Missense_S710F,Missense_S632F,Missense_S710F exm419280 4 113352899 [A/G] NM_001102406,NM_001253884,NM_025144 ALPK1,ALPK1,ALPK1 EXON Missense_M732I,Missense_M654I,Missense_M732I exm419283 4 113352955 [T/C] NM_001102406,NM_001253884,NM_025144 ALPK1,ALPK1,ALPK1 EXON Missense_P751L,Missense_P673L,Missense_P751L exm419290 4 113353115 [C/G] NM_001102406,NM_001253884,NM_025144 ALPK1,ALPK1,ALPK1 EXON Missense_R804S,Missense_R726S,Missense_R804S exm419294 4 113353156 [A/G] NM_001102406,NM_001253884,NM_025144 ALPK1,ALPK1,ALPK1 EXON Missense_C818Y,Missense_C740Y,Missense_C818Y exm419297 4 113353285 [T/C] NM_001102406,NM_001253884,NM_025144 ALPK1,ALPK1,ALPK1 EXON Missense_M861T,Missense_M783T,Missense_M861T exm419299 4 113353290 [A/G] NM_001102406,NM_001253884,NM_025144 ALPK1,ALPK1,ALPK1 EXON Missense_V863I,Missense_V785I,Missense_V863I exm419300 4 113353311 [A/G] NM_001102406,NM_001253884,NM_025144 ALPK1,ALPK1,ALPK1 EXON Missense_G870S,Missense_G792S,Missense_G870S exm419301 4 113353321 [T/G] NM_001102406,NM_001253884,NM_025144 ALPK1,ALPK1,ALPK1 EXON Missense_R873I,Missense_R795I,Missense_R873I exm419311 4 113353433 [A/C] NM_001102406,NM_001253884,NM_025144 ALPK1,ALPK1,ALPK1 EXON Missense_E910D,Missense_E832D,Missense_E910D exm419313 4 113353449 [A/G] NM_001102406,NM_001253884,NM_025144 ALPK1,ALPK1,ALPK1 EXON Missense_N916D,Missense_N838D,Missense_N916D exm419318 4 113353522 [T/G] NM_001102406,NM_001253884,NM_025144 ALPK1,ALPK1,ALPK1 EXON Missense_G940V,Missense_G862V,Missense_G940V exm419320 4 113353561 [T/C] NM_001102406,NM_001253884,NM_025144 ALPK1,ALPK1,ALPK1 EXON Missense_S953F,Missense_S875F,Missense_S953F exm419321 4 113353588 [T/C] NM_001102406,NM_001253884,NM_025144 ALPK1,ALPK1,ALPK1 EXON Missense_P962L,Missense_P884L,Missense_P962L exm2240330 4 113353607 [G/C] NM_001102406,NM_001253884,NM_025144 ALPK1,ALPK1,ALPK1 EXON Missense_E968D,Missense_E890D,Missense_E968D exm419322 4 113353620 [T/C] NM_001102406,NM_001253884,NM_025144 ALPK1,ALPK1,ALPK1 EXON Missense_R973C,Missense_R895C,Missense_R973C exm419328 4 113353729 [A/G] NM_001102406,NM_001253884,NM_025144 ALPK1,ALPK1,ALPK1 EXON Missense_R1009Q,Missense_R931Q,Missense_R1009Q exm419331 4 113356306 [A/G] NM_001102406,NM_001253884,NM_025144 ALPK1,ALPK1,ALPK1 EXON Missense_A1013T,Missense_A935T,Missense_A1013T exm419334 4 113356363 [T/G] NM_001102406,NM_001253884,NM_025144 ALPK1,ALPK1,ALPK1 EXON Missense_V1032F,Missense_V954F,Missense_V1032F exm419341 4 113359702 [A/G] NM_001102406,NM_001253884,NM_025144 ALPK1,ALPK1,ALPK1 EXON Missense_R1084Q,Missense_R1006Q,Missense_R1084Q exm419345 4 113359752 [A/G] NM_001102406,NM_001253884,NM_025144 ALPK1,ALPK1,ALPK1 EXON Missense_E1101K,Missense_E1023K,Missense_E1101K exm419350 4 113359801 [T/C] NM_001102406,NM_001253884,NM_025144 ALPK1,ALPK1,ALPK1 EXON Missense_L1117P,Missense_L1039P,Missense_L1117P exm2064054 4 113360884 [A/C] NM_001102406,NM_001253884,NM_025144 ALPK1,ALPK1,ALPK1 EXON Missense_P1132T,Missense_P1054T,Missense_P1132T exm419374 4 113435847 [A/G] NM_024019 NEUROG2 EXON Missense_A262V exm419398 4 113436546 [A/G] NM_024019 NEUROG2 EXON Missense_A29V exm419402 4 113460814 [A/C] NM_018392 C4orf21 EXON Missense_Q2068H exm419410 4 113461145 [A/C] NM_018392 C4orf21 EXON Missense_F2016V exm419413 4 113461259 [T/C] NM_018392 C4orf21 EXON Missense_V1978M exm419414 4 113462071 [A/G] NM_018392 C4orf21 EXON Missense_T1939M exm419416 4 113462110 [A/G] NM_018392 C4orf21 EXON Missense_I1926T exm419420 4 113468440 [C/G] NM_018392 C4orf21 Silent exm419428 4 113468564 [T/C] NM_018392 C4orf21 EXON Synonymous_R1825R exm419430 4 113469473 [A/G] NM_018392 C4orf21 EXON Missense_P1804S exm419439 4 113479316 [T/C] NM_018392 C4orf21 EXON Missense_V1704I exm419444 4 113479385 [A/G] NM_018392 C4orf21 EXON Missense_P1681S exm419446 4 113481930 [T/C] NM_018392 C4orf21 EXON Missense_K1640R exm419450 4 113482007 [A/C] NM_018392 C4orf21 EXON Missense_K1614N exm419455 4 113482138 [T/C] NM_018392 C4orf21 EXON Missense_I1571V exm419456 4 113482141 [T/G] NM_018392 C4orf21 EXON Missense_T1570P exm419457 4 113482146 [A/G] NM_018392 C4orf21 EXON Missense_S1568L exm419459 4 113483611 [C/G] NM_018392 C4orf21 EXON Missense_A1538G exm419472 4 113505194 [A/G] NM_018392 C4orf21 EXON Missense_I1413T exm419473 4 113505203 [A/G] NM_018392 C4orf21 EXON Missense_I1410T exm419474 4 113505261 [T/C] NM_018392 C4orf21 EXON Missense_V1391M exm419475 4 113505291 [A/G] NM_018392 C4orf21 EXON Nonsense_R1381X exm419485 4 113507730 [T/C] NM_018392 C4orf21 EXON Missense_G1263S exm419492 4 113508584 [T/C] NM_018392 C4orf21 EXON Missense_Y1210C exm419495 4 113508707 [T/C] NM_018392 C4orf21 EXON Missense_D1169G exm419496 4 113508718 [G/C] NM_018392 C4orf21 EXON Missense_K1165N exm419498 4 113508810 [A/C] NM_018392 C4orf21 EXON Missense_V1135F exm419499 4 113508884 [A/G] NM_018392 C4orf21 EXON Missense_S1110L exm419512 4 113524723 [A/G] NM_018392 C4orf21 EXON Missense_T978I exm419523 4 113538671 [T/C] NM_018392 C4orf21 EXON Missense_E843K exm419525 4 113538720 [A/C] NM_018392 C4orf21 EXON Missense_I826M exm419556 4 113539391 [A/G] NM_018392 C4orf21 EXON Missense_F603L exm419560 4 113539487 [A/C] NM_018392 C4orf21 EXON Missense_C571G exm419565 4 113539694 [T/C] NM_018392 C4orf21 EXON Missense_M502V exm419575 4 113539969 [T/C] NM_018392 C4orf21 EXON Missense_N410S exm419588 4 113540174 [T/C] NM_018392 C4orf21 EXON Missense_T342A exm419597 4 113540306 [A/G] NM_018392 C4orf21 EXON Nonsense_Q298X exm419599 4 113540414 [T/C] NM_018392 C4orf21 EXON Missense_E262K exm419600 4 113540422 [A/G] NM_018392 C4orf21 EXON Missense_L259P exm419602 4 113540475 [C/G] NM_018392 C4orf21 EXON Missense_H241Q exm419609 4 113540755 [C/G] NM_018392 C4orf21 EXON Missense_P148R exm419611 4 113540768 [T/C] NM_018392 C4orf21 EXON Missense_K144E exm419613 4 113541211 [A/G] NM_018392 C4orf21 EXON Missense_S100P exm419615 4 113541267 [A/G] NM_018392 C4orf21 EXON Missense_I81T exm419617 4 113541332 [A/C] NM_018392 C4orf21 EXON Missense_D59E exm419618 4 113541346 [T/C] NM_018392 C4orf21 EXON Missense_V55M exm419620 4 113544993 [T/G] NM_018392 C4orf21 EXON Missense_L48M exm419629 4 113565835 [A/G] NR_049768,NM_016648,NM_001267039,NM_015454 LARP7,LARP7,LARP7,LARP7 EXON Silent,Missense_E4K,Missense_E11K,Missense_E4K exm419634 4 113566009 [G/C] NR_049768,NM_016648,NM_001267039,NM_015454 LARP7,LARP7,LARP7,LARP7 EXON Silent,Missense_E62Q,Missense_E69Q,Missense_E62Q exm419640 4 113567760 [T/C] NR_049768,NM_016648,NM_001267039,NM_015454 LARP7,LARP7,LARP7,LARP7 EXON Silent,Missense_T107I,Missense_T114I,Missense_T107I exm419654 4 113568359 [G/C] NR_049768,NM_016648,NM_001267039,NM_015454 LARP7,LARP7,LARP7,LARP7 EXON Silent,Missense_E217D,Missense_E224D,Missense_E217D exm419658 4 113568436 [A/C] NR_049768,NM_016648,NM_001267039,NM_015454 LARP7,LARP7,LARP7,LARP7 EXON Silent,Missense_T243K,Missense_T250K,Missense_T243K exm419659 4 113568442 [A/G] NR_049768,NM_016648,NM_001267039,NM_015454 LARP7,LARP7,LARP7,LARP7 EXON Silent,Missense_N245S,Missense_N252S,Missense_N245S exm419663 4 113568544 [A/G] NR_049768,NM_016648,NM_001267039,NM_015454 LARP7,LARP7,LARP7,LARP7 EXON Silent,Missense_R279Q,Missense_R286Q,Missense_R279Q exm419665 4 113568558 [A/G] NR_049768,NM_016648,NM_001267039,NM_015454 LARP7,LARP7,LARP7,LARP7 EXON Silent,Missense_A284T,Missense_A291T,Missense_A284T exm419668 4 113568686 [A/T] NR_049768,NM_016648,NM_001267039,NM_015454 LARP7,LARP7,LARP7,LARP7 EXON Silent,Missense_E326D,Missense_E333D,Missense_E326D exm419701 4 113570695 [A/G] NR_049768,NM_016648,NM_001267039,NM_015454 LARP7,LARP7,LARP7,LARP7 EXON Silent,Missense_E383K,Missense_E390K,Missense_E383K exm419709 4 113574284 [A/G] NR_049768,NM_016648,NM_001267039,NM_015454 LARP7,LARP7,LARP7,LARP7 EXON Silent,Missense_D490N,Missense_D497N,Missense_D490N exm2265863 4 113867271 [A/G] NM_001127493 ANK2 Silent exm2256287 4 113918577 [T/C] NM_001127493 ANK2 Silent exm-rs7664927 4 114058373 [A/G] NM_001127493,NM_020977,NM_001148 ANK2,ANK2,ANK2 Silent,Silent,Silent exm419766 4 114095617 [G/C] NM_001127493,NM_020977,NM_001148 ANK2,ANK2,ANK2 EXON Missense_L23V,Missense_L44V,Missense_L44V exm419797 4 114170990 [A/G] NM_001127493,NM_020977,NM_001148 ANK2,ANK2,ANK2 EXON Missense_R300Q,Missense_R321Q,Missense_R321Q exm419805 4 114177035 [T/C] NM_001127493,NM_020977,NM_001148 ANK2,ANK2,ANK2 EXON Missense_R358C,Missense_R379C,Missense_R379C exm2256288 4 114203944 [A/G] NM_001127493,NM_020977,NM_001148 ANK2,ANK2,ANK2 EXON Synonymous_P644P,Synonymous_P665P,Synonymous_P665P exm419837 4 114204009 [A/G] NM_001127493,NM_020977,NM_001148 ANK2,ANK2,ANK2 EXON Missense_N666S,Missense_N687S,Missense_N687S exm419841 4 114208825 [T/C] NM_001127493,NM_020977,NM_001148 ANK2,ANK2,ANK2 EXON Missense_T694I,Missense_T715I,Missense_T715I exm2256289 4 114224592 [T/C] NM_001127493,NM_020977,NM_001148 ANK2,ANK2,ANK2 Silent,Silent,Silent exm419872 4 114239712 [T/C] NM_001127493,NM_020977,NM_001148 ANK2,ANK2,ANK2 EXON Missense_R925C,Missense_R946C,Missense_R946C exm419895 4 114254322 [A/G] NM_001127493,NM_020977,NM_001148 ANK2,ANK2,ANK2 EXON Missense_T1104A,Missense_T1113A,Missense_T1113A exm419907 4 114257199 [T/C] NM_001127493,NM_020977,NM_001148 ANK2,ANK2,ANK2 EXON Missense_R1184C,Missense_R1193C,Missense_R1193C exm419914 4 114262881 [A/G] NM_001127493,NM_020977,NM_001148 ANK2,ANK2,ANK2 EXON Missense_V1302I,Missense_V1311I,Missense_V1311I exm419922 4 114264270 [A/G] NM_001127493,NM_020977,NM_001148 ANK2,ANK2,ANK2 EXON Missense_K1398R,Missense_K1407R,Missense_K1407R exm419924 4 114267056 [A/G] NM_001127493,NM_020977,NM_001148 ANK2,ANK2,ANK2 EXON Missense_V1408I,Missense_V1417I,Missense_V1417I exm419926 4 114267117 [T/C] NM_001127493,NM_020977,NM_001148 ANK2,ANK2,ANK2 EXON Missense_T1428M,Missense_T1437M,Missense_T1437M exm419929 4 114267122 [T/G] NM_001127493,NM_020977,NM_001148 ANK2,ANK2,ANK2 EXON Missense_G1430C,Missense_G1439C,Missense_G1439C exm419933 4 114269433 [A/G] NM_001127493,NM_020977,NM_001148 ANK2,ANK2,ANK2 EXON Missense_E1449G,Missense_E1458G,Missense_E1458G exm419942 4 114274230 [C/G] NM_001127493,NM_020977,NM_001148 ANK2,ANK2,ANK2 EXON Silent,Silent,Missense_V1486L exm419944 4 114274329 [T/G] NM_001127493,NM_020977,NM_001148 ANK2,ANK2,ANK2 EXON Silent,Silent,Missense_A1519S exm419950 4 114274518 [T/C] NM_001127493,NM_020977,NM_001148 ANK2,ANK2,ANK2 EXON Silent,Silent,Missense_R1582W exm419951 4 114274519 [A/G] NM_001127493,NM_020977,NM_001148 ANK2,ANK2,ANK2 EXON Silent,Silent,Missense_R1582Q exm419963 4 114275005 [A/C] NM_001127493,NM_020977,NM_001148 ANK2,ANK2,ANK2 EXON Silent,Silent,Missense_A1744D exm2256290 4 114275087 [A/G] NM_001127493,NM_020977,NM_001148 ANK2,ANK2,ANK2 EXON Silent,Silent,Synonymous_K1771K exm419967 4 114275145 [A/G] NM_001127493,NM_020977,NM_001148 ANK2,ANK2,ANK2 EXON Silent,Silent,Missense_V1791I exm419976 4 114275283 [A/G] NM_001127493,NM_020977,NM_001148 ANK2,ANK2,ANK2 EXON Silent,Silent,Missense_A1837T exm419981 4 114275425 [T/C] NM_001127493,NM_020977,NM_001148 ANK2,ANK2,ANK2 EXON Silent,Silent,Missense_S1884L exm419992 4 114275532 [A/G] NM_001127493,NM_020977,NM_001148 ANK2,ANK2,ANK2 EXON Silent,Silent,Missense_G1920R exm419994 4 114275548 [A/C] NM_001127493,NM_020977,NM_001148 ANK2,ANK2,ANK2 EXON Silent,Silent,Missense_H1925P exm420012 4 114275917 [A/G] NM_001127493,NM_020977,NM_001148 ANK2,ANK2,ANK2 EXON Silent,Silent,Missense_Q2048R exm420016 4 114275950 [T/C] NM_001127493,NM_020977,NM_001148 ANK2,ANK2,ANK2 EXON Silent,Silent,Missense_T2059M exm420018 4 114275964 [A/T] NM_001127493,NM_020977,NM_001148 ANK2,ANK2,ANK2 EXON Silent,Silent,Missense_S2064T exm420019 4 114275980 [A/G] NM_001127493,NM_020977,NM_001148 ANK2,ANK2,ANK2 EXON Silent,Silent,Missense_R2069H exm420021 4 114276002 [T/G] NM_001127493,NM_020977,NM_001148 ANK2,ANK2,ANK2 EXON Silent,Silent,Missense_K2076N exm420032 4 114276408 [A/G] NM_001127493,NM_020977,NM_001148 ANK2,ANK2,ANK2 EXON Silent,Silent,Missense_G2212S exm420033 4 114276415 [T/C] NM_001127493,NM_020977,NM_001148 ANK2,ANK2,ANK2 EXON Silent,Silent,Missense_P2214L exm420046 4 114276781 [T/C] NM_001127493,NM_020977,NM_001148 ANK2,ANK2,ANK2 EXON Silent,Silent,Missense_A2336V exm420051 4 114276880 [T/C] NM_001127493,NM_020977,NM_001148 ANK2,ANK2,ANK2 EXON Silent,Silent,Missense_V2369A exm420053 4 114276891 [A/G] NM_001127493,NM_020977,NM_001148 ANK2,ANK2,ANK2 EXON Silent,Silent,Missense_T2373A exm420056 4 114276906 [A/G] NM_001127493,NM_020977,NM_001148 ANK2,ANK2,ANK2 EXON Silent,Silent,Missense_E2378K exm420058 4 114276922 [T/C] NM_001127493,NM_020977,NM_001148 ANK2,ANK2,ANK2 EXON Silent,Silent,Missense_P2383L exm420062 4 114276957 [A/C] NM_001127493,NM_020977,NM_001148 ANK2,ANK2,ANK2 EXON Silent,Silent,Missense_T2395P exm420065 4 114277039 [A/G] NM_001127493,NM_020977,NM_001148 ANK2,ANK2,ANK2 EXON Silent,Silent,Missense_S2422N exm420067 4 114277041 [A/G] NM_001127493,NM_020977,NM_001148 ANK2,ANK2,ANK2 EXON Silent,Silent,Missense_A2423T exm420073 4 114277171 [A/G] NM_001127493,NM_020977,NM_001148 ANK2,ANK2,ANK2 EXON Silent,Silent,Missense_R2466H exm420078 4 114277273 [T/C] NM_001127493,NM_020977,NM_001148 ANK2,ANK2,ANK2 EXON Silent,Silent,Missense_T2500M exm420093 4 114277605 [T/C] NM_001127493,NM_020977,NM_001148 ANK2,ANK2,ANK2 EXON Silent,Silent,Missense_Y2611H exm420109 4 114277918 [T/C] NM_001127493,NM_020977,NM_001148 ANK2,ANK2,ANK2 EXON Silent,Silent,Missense_S2715F exm420112 4 114278014 [A/G] NM_001127493,NM_020977,NM_001148 ANK2,ANK2,ANK2 EXON Silent,Silent,Missense_R2747H exm420115 4 114278128 [T/C] NM_001127493,NM_020977,NM_001148 ANK2,ANK2,ANK2 EXON Silent,Silent,Missense_S2785L exm420119 4 114278277 [T/C] NM_001127493,NM_020977,NM_001148 ANK2,ANK2,ANK2 EXON Silent,Silent,Missense_P2835S exm420131 4 114278617 [G/C] NM_001127493,NM_020977,NM_001148 ANK2,ANK2,ANK2 EXON Silent,Silent,Missense_A2948G exm420134 4 114278666 [C/G] NM_001127493,NM_020977,NM_001148 ANK2,ANK2,ANK2 EXON Silent,Silent,Missense_I2964M exm420138 4 114278753 [A/G] NM_001127493,NM_020977,NM_001148 ANK2,ANK2,ANK2 EXON Silent,Silent,Missense_I2993M exm420142 4 114278820 [A/G] NM_001127493,NM_020977,NM_001148 ANK2,ANK2,ANK2 EXON Silent,Silent,Missense_E3016K exm420145 4 114278835 [A/G] NM_001127493,NM_020977,NM_001148 ANK2,ANK2,ANK2 EXON Silent,Silent,Missense_A3021T exm420156 4 114279060 [A/G] NM_001127493,NM_020977,NM_001148 ANK2,ANK2,ANK2 EXON Silent,Silent,Missense_S3096G exm420163 4 114279228 [A/G] NM_001127493,NM_020977,NM_001148 ANK2,ANK2,ANK2 EXON Silent,Silent,Missense_T3152A exm420165 4 114279300 [T/G] NM_001127493,NM_020977,NM_001148 ANK2,ANK2,ANK2 EXON Silent,Silent,Missense_D3176Y exm420172 4 114279453 [A/C] NM_001127493,NM_020977,NM_001148 ANK2,ANK2,ANK2 EXON Silent,Silent,Missense_T3227P exm2064286 4 114279456 [A/G] NM_001127493,NM_020977,NM_001148 ANK2,ANK2,ANK2 EXON Silent,Silent,Missense_V3228M exm420181 4 114279599 [T/G] NM_001127493,NM_020977,NM_001148 ANK2,ANK2,ANK2 EXON Silent,Silent,Missense_D3275E exm420183 4 114279627 [A/C] NM_001127493,NM_020977,NM_001148 ANK2,ANK2,ANK2 EXON Silent,Silent,Missense_I3285L exm420187 4 114279674 [A/C] NM_001127493,NM_020977,NM_001148 ANK2,ANK2,ANK2 EXON Silent,Silent,Missense_S3300R exm420189 4 114279697 [G/C] NM_001127493,NM_020977,NM_001148 ANK2,ANK2,ANK2 EXON Silent,Silent,Missense_T3308S exm420199 4 114280028 [A/C] NM_001127493,NM_020977,NM_001148 ANK2,ANK2,ANK2 EXON Silent,Silent,Missense_R3418S exm420200 4 114280063 [A/C] NM_001127493,NM_020977,NM_001148 ANK2,ANK2,ANK2 EXON Silent,Silent,Missense_E3430A exm2274045 4 114280136 [C/G] NM_001127493,NM_020977,NM_001148 ANK2,ANK2,ANK2 EXON Silent,Silent,Missense_R3454S exm2256291 4 114280145 [A/G] NM_001127493,NM_020977,NM_001148 ANK2,ANK2,ANK2 EXON Silent,Silent,Synonymous_T3457T exm420211 4 114281999 [T/C] NM_001127493,NM_020977,NM_001148 ANK2,ANK2,ANK2 EXON Missense_R1474W,Missense_R1483W,Missense_R3568W exm420216 4 114284618 [T/G] NM_001127493,NM_020977,NM_001148 ANK2,ANK2,ANK2 EXON Missense_H1533Q,Missense_H1542Q,Missense_H3627Q exm420219 4 114286207 [T/A] NM_001127493,NM_020977,NM_001148 ANK2,ANK2,ANK2 EXON Missense_V1540D,Missense_V1549D,Missense_V3634D exm420227 4 114286315 [A/C] NM_001127493,NM_020977,NM_001148 ANK2,ANK2,ANK2 EXON Missense_T1576N,Missense_T1585N,Missense_T3670N exm420233 4 114288823 [A/G] NM_001127493,NM_020977,NM_001148 ANK2,ANK2,ANK2 EXON Missense_V1618I,Missense_V1627I,Missense_V3712I exm420236 4 114288907 [A/C] NM_001127493,NM_020977,NM_001148 ANK2,ANK2,ANK2 EXON Missense_L1646I,Missense_L1655I,Missense_L3740I exm420238 4 114288920 [A/C] NM_001127493,NM_020977,NM_001148 ANK2,ANK2,ANK2 EXON Missense_T1650N,Missense_T1659N,Missense_T3744N exm420242 4 114290810 [A/G] NM_001127493,NM_020977,NM_001148 ANK2,ANK2,ANK2 EXON Missense_R1726Q,Missense_R1735Q,Missense_R3820Q exm420243 4 114290816 [G/C] NM_001127493,NM_020977,NM_001148 ANK2,ANK2,ANK2 EXON Missense_G1728A,Missense_G1737A,Missense_G3822A exm420244 4 114290844 [T/G] NM_001127493,NM_020977,NM_001148 ANK2,ANK2,ANK2 EXON Missense_E1737D,Missense_E1746D,Missense_E3831D exm420245 4 114290867 [C/G] NM_001127493,NM_020977,NM_001148 ANK2,ANK2,ANK2 EXON Missense_S1745T,Missense_S1754T,Missense_S3839T exm420247 4 114290875 [T/C] NM_001127493,NM_020977,NM_001148 ANK2,ANK2,ANK2 EXON Missense_R1748W,Missense_R1757W,Missense_R3842W exm420261 4 114294462 [T/C] NM_001127493,NM_020977,NM_001148 ANK2,ANK2,ANK2 EXON Missense_R1812W,Missense_R1821W,Missense_R3906W exm420264 4 114294471 [T/C] NM_001127493,NM_020977,NM_001148 ANK2,ANK2,ANK2 EXON Missense_S1815P,Missense_S1824P,Missense_S3909P exm420269 4 114294537 [A/G] NM_001127493,NM_020977,NM_001148 ANK2,ANK2,ANK2 EXON Missense_E1837K,Missense_E1846K,Missense_E3931K exm420283 4 114376933 [A/G] NM_001221,NM_172128,NM_172127 CAMK2D,CAMK2D,CAMK2D EXON Missense_T493I,Silent,Silent exm420289 4 114378519 [A/G] NM_001221,NM_172128,NM_172127,NM_172115,NM_172114,NM_172129 CAMK2D,CAMK2D,CAMK2D,CAMK2D,CAMK2D,CAMK2D EXON Missense_R469C,Missense_R469C,Missense_R469C,Missense_R469C,Missense_R483C,Missense_R480C exm420317 4 114458513 [T/G] NM_001221,NM_172128,NM_172127,NM_172115,NM_172114,NM_172129 CAMK2D,CAMK2D,CAMK2D,CAMK2D,CAMK2D,CAMK2D EXON Missense_D167E,Missense_D167E,Missense_D167E,Missense_D167E,Missense_D167E,Missense_D167E exm2264100 4 114611948 [A/C] NM_001221,NM_172128,NM_172127,NM_172115,NM_172114,NM_172129 CAMK2D,CAMK2D,CAMK2D,CAMK2D,CAMK2D,CAMK2D Silent,Silent,Silent,Silent,Silent,Silent exm2256292 4 114745606 [A/G] exm420341 4 114823535 [C/G] NM_024590 ARSJ EXON Missense_S565R exm420343 4 114823590 [T/C] NM_024590 ARSJ EXON Missense_N547S exm420349 4 114823690 [T/C] NM_024590 ARSJ EXON Missense_G514R exm420350 4 114823698 [T/C] NM_024590 ARSJ EXON Missense_R511K exm420352 4 114823753 [T/C] NM_024590 ARSJ EXON Missense_V493I exm420353 4 114823791 [T/C] NM_024590 ARSJ EXON Nonsense_W480X exm420356 4 114823986 [T/C] NM_024590 ARSJ EXON Missense_R415Q exm420357 4 114824011 [T/C] NM_024590 ARSJ EXON Missense_I407V exm420363 4 114824256 [A/G] NM_024590 ARSJ EXON Missense_S325F exm420369 4 114824392 [C/G] NM_024590 ARSJ EXON Missense_E280Q exm420377 4 114824710 [T/C] NM_024590 ARSJ EXON Missense_V174I exm-rs7679911 4 114863593 [G/C] NM_024590 ARSJ Silent exm2265747 4 115192659 [A/G] exm2269958 4 115327659 [T/C] exm420400 4 115544112 [A/G] NM_001128174,NM_003360 UGT8,UGT8 EXON Missense_V26M,Missense_V26M exm420402 4 115544164 [T/C] NM_001128174,NM_003360 UGT8,UGT8 EXON Missense_S43L,Missense_S43L exm2064354 4 115544175 [A/G] NM_001128174,NM_003360 UGT8,UGT8 EXON Missense_E47K,Missense_E47K exm420408 4 115544355 [C/G] NM_001128174,NM_003360 UGT8,UGT8 EXON Missense_L107V,Missense_L107V exm420410 4 115544472 [A/G] NM_001128174,NM_003360 UGT8,UGT8 EXON Missense_V146M,Missense_V146M exm420412 4 115544490 [A/G] NM_001128174,NM_003360 UGT8,UGT8 EXON Missense_G152R,Missense_G152R exm420424 4 115544757 [A/G] NM_001128174,NM_003360 UGT8,UGT8 EXON Missense_M241V,Missense_M241V exm420430 4 115585236 [T/A] NM_001128174,NM_003360 UGT8,UGT8 EXON Missense_D303V,Missense_D303V exm420436 4 115589302 [A/G] NM_001128174,NM_003360 UGT8,UGT8 EXON Missense_I368M,Missense_I368M exm420441 4 115589441 [A/G] NM_001128174,NM_003360 UGT8,UGT8 EXON Missense_K415E,Missense_K415E exm420448 4 115597329 [A/G] NM_001128174,NM_003360 UGT8,UGT8 EXON Missense_K504R,Missense_K504R exm-rs4269197 4 115638209 [T/G] exm420467 4 115751002 [T/C] NM_022569 NDST4 EXON Missense_K815E exm420470 4 115754786 [T/C] NM_022569 NDST4 EXON Missense_R791H exm420471 4 115754831 [A/G] NM_022569 NDST4 EXON Missense_A776V exm420479 4 115767013 [A/G] NM_022569 NDST4 EXON Missense_I694T exm420481 4 115767094 [T/C] NM_022569 NDST4 EXON Missense_S667N exm420487 4 115769450 [T/C] NM_022569 NDST4 EXON Missense_I621V exm2064390 4 115769485 [A/G] NM_022569 NDST4 EXON Missense_A609V exm420494 4 115792021 [T/C] NM_022569 NDST4 EXON Missense_Q541R exm420495 4 115792029 [C/G] NM_022569 NDST4 EXON Missense_N538K exm420496 4 115792033 [A/C] NM_022569 NDST4 EXON Missense_V537G exm420497 4 115792043 [T/C] NM_022569 NDST4 EXON Missense_V534M exm420507 4 115856444 [T/C] NM_022569 NDST4 EXON Missense_Y485C exm420510 4 115858577 [A/G] NM_022569 NDST4 EXON Missense_A435V exm420516 4 115891633 [C/G] NM_022569 NDST4 EXON Missense_E392Q exm420520 4 115898352 [A/G] NM_022569 NDST4 EXON Missense_Y353H exm420521 4 115898360 [C/G] NM_022569 NDST4 EXON Missense_G350A exm420528 4 115997246 [T/A] NM_022569 NDST4 EXON Missense_E316V exm420539 4 115997612 [A/C] NM_022569 NDST4 EXON Missense_F194C exm420544 4 115997847 [A/C] NM_022569 NDST4 EXON Missense_D116Y exm420545 4 115997943 [T/C] NM_022569 NDST4 EXON Missense_V84M exm420548 4 115997968 [T/G] NM_022569 NDST4 EXON Missense_K75N exm420553 4 115998083 [T/C] NM_022569 NDST4 EXON Missense_Y37C exm420555 4 115998124 [G/C] NM_022569 NDST4 EXON Missense_L23F exm420556 4 115998150 [T/C] NM_022569 NDST4 EXON Missense_I15V exm420558 4 115998158 [T/C] NM_022569 NDST4 EXON Missense_R12Q exm2264065 4 116044411 [A/C] exm2269824 4 116490478 [T/C] exm2261589 4 116547100 [T/C] exm2269825 4 116804645 [T/C] exm2269960 4 117151215 [T/C] exm-rs2389202 4 117254289 [A/T] exm2265748 4 117553092 [A/G] exm2269826 4 117800441 [T/C] exm420563 4 118005474 [T/G] NM_152402 TRAM1L1 EXON Missense_D359A exm420578 4 118005853 [A/C] NM_152402 TRAM1L1 EXON Missense_S233A exm420591 4 118006170 [A/G] NM_152402 TRAM1L1 EXON Missense_V127A exm420608 4 118006488 [T/C] NM_152402 TRAM1L1 EXON Missense_Q21R exm-rs10433903 4 118093137 [T/C] exm2269961 4 118204404 [T/G] exm-rs4318720 4 118332255 [A/G] exm-rs4422476 4 118651823 [T/C] exm2269828 4 118952126 [T/C] exm420622 4 118975076 [T/C] NM_004784 NDST3 EXON Missense_I4T exm420628 4 118975214 [T/C] NM_004784 NDST3 EXON Missense_V50A exm420633 4 118975269 [A/G] NM_004784 NDST3 EXON Missense_M68I exm2064445 4 118975427 [T/C] NM_004784 NDST3 EXON Missense_I121T exm420643 4 118975586 [A/G] NM_004784 NDST3 EXON Missense_S174N exm420663 4 119036008 [A/G] NM_004784 NDST3 EXON Missense_D373N exm420667 4 119036106 [A/C] NM_004784 NDST3 EXON Missense_K405N exm420673 4 119059317 [A/G] NM_004784 NDST3 EXON Missense_K445E exm420684 4 119145749 [A/G] NM_004784 NDST3 EXON Missense_R548Q exm420700 4 119163267 [A/G] NM_004784 NDST3 EXON Missense_G788R exm420704 4 119174695 [A/C] NM_004784 NDST3 EXON Missense_E814A exm420719 4 119203216 [T/C] NM_003619 PRSS12 EXON Missense_G835R exm420720 4 119203221 [T/C] NM_003619 PRSS12 EXON Missense_R833Q exm2256301 4 119203259 [A/G] NM_003619 PRSS12 EXON Synonymous_S820S exm420728 4 119203330 [A/G] NM_003619 PRSS12 EXON Missense_R797C exm420731 4 119203985 [T/C] NM_003619 PRSS12 Silent exm420733 4 119204127 [T/C] NM_003619 PRSS12 EXON Missense_I727V exm2276864 4 119204131 [A/G] NM_003619 PRSS12 EXON Synonymous_Y725Y exm2276865 4 119204190 [A/C] NM_003619 PRSS12 EXON Nonsense_E706X exm420736 4 119204218 [A/G] NM_003619 PRSS12 EXON Synonymous_H696H exm2256302 4 119204218 [A/G] NM_003619 PRSS12 EXON Synonymous_H696H exm420741 4 119216099 [G/C] NM_003619 PRSS12 EXON Missense_F678L exm420750 4 119219909 [A/C] NM_003619 PRSS12 EXON Missense_A606S exm420758 4 119220085 [T/G] NM_003619 PRSS12 EXON Missense_A547D exm420760 4 119229592 [T/C] NM_003619 PRSS12 EXON Missense_K544E exm420772 4 119234413 [A/G] NM_003619 PRSS12 EXON Missense_R478C exm420780 4 119237359 [T/C] NM_003619 PRSS12 EXON Missense_V424I exm420797 4 119253022 [T/C] NM_003619 PRSS12 Silent exm2064531 4 119256730 [A/G] NM_003619 PRSS12 EXON Nonsense_R240X exm420822 4 119259449 [T/C] NM_003619 PRSS12 EXON Missense_G175S exm420828 4 119273436 [A/G] NM_003619 PRSS12 EXON Missense_P147L exm420840 4 119273839 [T/C] NM_003619 PRSS12 EXON Missense_G13R exm420841 4 119273848 [C/G] NM_003619 PRSS12 EXON Missense_L10V exm2265864 4 119302960 [A/G] exm2269829 4 119407189 [T/C] exm420854 4 119609096 [T/G] NM_020961 METTL14 EXON Missense_D29Y exm420859 4 119610560 [A/G] NM_020961 METTL14 EXON Missense_R64H exm420872 4 119621750 [A/G] NM_020961 METTL14 EXON Missense_I231V exm420884 4 119631380 [A/T] NM_020961 METTL14 EXON Missense_S432T exm2275768 4 119652555 [A/G] NM_014822 SEC24D EXON Synonymous_F928F exm420895 4 119652563 [A/G] NM_014822 SEC24D EXON Missense_H926Y exm2256304 4 119652606 [T/G] NM_014822 SEC24D EXON Synonymous_S911S exm420899 4 119652658 [A/G] NM_014822 SEC24D EXON Missense_T894M exm420905 4 119654028 [T/C] NM_014822 SEC24D EXON Missense_M846V exm420906 4 119654036 [A/G] NM_014822 SEC24D EXON Missense_P843L exm420909 4 119659496 [A/G] NM_014822 SEC24D EXON Missense_R806W exm420915 4 119660436 [T/C] NM_014822 SEC24D EXON Missense_V749M exm420919 4 119661921 [T/G] NM_014822 SEC24D EXON Missense_N712T exm420940 4 119673889 [A/G] NM_014822 SEC24D EXON Missense_L526F exm420954 4 119686052 [A/G] NM_014822 SEC24D EXON Missense_H401Y exm420968 4 119718941 [T/C] NM_014822 SEC24D EXON Missense_R313H exm420976 4 119727089 [A/C] NM_014822 SEC24D EXON Missense_D274E exm420981 4 119736284 [T/C] NM_014822 SEC24D EXON Missense_A234T exm420983 4 119736607 [T/C] NM_014822 SEC24D EXON Synonymous_Q224Q exm420988 4 119736659 [T/C] NM_014822 SEC24D EXON Missense_Q207R exm420990 4 119736701 [A/G] NM_014822 SEC24D EXON Missense_P193L exm421006 4 119745814 [A/C] NM_014822 SEC24D EXON Missense_G70V exm421007 4 119745842 [T/G] NM_014822 SEC24D EXON Missense_P61T exm421014 4 119745884 [A/G] NM_014822 SEC24D EXON Missense_P47S exm421016 4 119745898 [A/G] NM_014822 SEC24D EXON Missense_M42T exm421020 4 119754766 [T/C] NM_014822 SEC24D EXON Missense_Y29C exm2265865 4 119943328 [A/G] NM_001128934,NM_001128933,NM_133477 SYNPO2,SYNPO2,SYNPO2 Silent,Silent,Silent exm2256305 4 119947135 [T/C] NM_001128934,NM_001128933,NM_133477 SYNPO2,SYNPO2,SYNPO2 Silent,Silent,Silent exm2064612 4 119947922 [T/C] NM_001128934,NM_001128933,NM_133477 SYNPO2,SYNPO2,SYNPO2 EXON Missense_L133P,Missense_L133P,Missense_L133P exm421042 4 119948046 [A/C] NM_001128934,NM_001128933,NM_133477 SYNPO2,SYNPO2,SYNPO2 EXON Missense_Q174H,Missense_Q174H,Missense_Q174H exm421046 4 119948059 [A/G] NM_001128934,NM_001128933,NM_133477 SYNPO2,SYNPO2,SYNPO2 EXON Missense_A179T,Missense_A179T,Missense_A179T exm421052 4 119948170 [A/G] NM_001128934,NM_001128933,NM_133477 SYNPO2,SYNPO2,SYNPO2 EXON Missense_V216M,Missense_V216M,Missense_V216M exm421063 4 119948504 [C/G] NM_001128934,NM_001128933,NM_133477 SYNPO2,SYNPO2,SYNPO2 EXON Missense_A327G,Missense_A327G,Missense_A327G exm421064 4 119948506 [A/G] NM_001128934,NM_001128933,NM_133477 SYNPO2,SYNPO2,SYNPO2 EXON Missense_V328I,Missense_V328I,Missense_V328I exm2274046 4 119951510 [A/C] NM_001128934,NM_001128933,NM_133477 SYNPO2,SYNPO2,SYNPO2 EXON Missense_T527N,Missense_T527N,Missense_T527N exm421089 4 119951524 [A/G] NM_001128934,NM_001128933,NM_133477 SYNPO2,SYNPO2,SYNPO2 EXON Missense_T532A,Missense_T532A,Missense_T532A exm421092 4 119951647 [A/G] NM_001128934,NM_001128933,NM_133477 SYNPO2,SYNPO2,SYNPO2 EXON Missense_T573A,Missense_T573A,Missense_T573A exm421095 4 119951735 [G/C] NM_001128934,NM_001128933,NM_133477 SYNPO2,SYNPO2,SYNPO2 EXON Missense_P602R,Missense_P602R,Missense_P602R exm421097 4 119951786 [T/C] NM_001128934,NM_001128933,NM_133477 SYNPO2,SYNPO2,SYNPO2 EXON Missense_P619L,Missense_P619L,Missense_P619L exm421098 4 119951812 [A/C] NM_001128934,NM_001128933,NM_133477 SYNPO2,SYNPO2,SYNPO2 EXON Missense_P628T,Missense_P628T,Missense_P628T exm421099 4 119951813 [A/C] NM_001128934,NM_001128933,NM_133477 SYNPO2,SYNPO2,SYNPO2 EXON Missense_P628H,Missense_P628H,Missense_P628H exm421101 4 119951821 [T/G] NM_001128934,NM_001128933,NM_133477 SYNPO2,SYNPO2,SYNPO2 EXON Missense_A631S,Missense_A631S,Missense_A631S exm421106 4 119951959 [A/C] NM_001128934,NM_001128933,NM_133477 SYNPO2,SYNPO2,SYNPO2 EXON Missense_P677T,Missense_P677T,Missense_P677T exm421111 4 119952100 [A/G] NM_001128934,NM_001128933,NM_133477 SYNPO2,SYNPO2,SYNPO2 EXON Missense_G724R,Missense_G724R,Missense_G724R exm421112 4 119952134 [A/G] NM_001128934,NM_001128933,NM_133477 SYNPO2,SYNPO2,SYNPO2 EXON Missense_Y735C,Missense_Y735C,Missense_Y735C exm421128 4 119952589 [A/G] NM_001128934,NM_001128933,NM_133477 SYNPO2,SYNPO2,SYNPO2 EXON Missense_V887M,Missense_V887M,Missense_V887M exm421129 4 119952605 [T/C] NM_001128934,NM_001128933,NM_133477 SYNPO2,SYNPO2,SYNPO2 EXON Missense_T892M,Missense_T892M,Missense_T892M exm421130 4 119952620 [G/C] NM_001128934,NM_001128933,NM_133477 SYNPO2,SYNPO2,SYNPO2 EXON Missense_A897G,Missense_A897G,Missense_A897G exm421133 4 119952694 [T/C] NM_001128934,NM_001128933,NM_133477 SYNPO2,SYNPO2,SYNPO2 EXON Missense_P922S,Missense_P922S,Missense_P922S exm421136 4 119952719 [T/C] NM_001128934,NM_001128933,NM_133477 SYNPO2,SYNPO2,SYNPO2 EXON Missense_S930L,Missense_S930L,Missense_S930L exm2064639 4 119952881 [G/C] NM_001128934,NM_001128933,NM_133477 SYNPO2,SYNPO2,SYNPO2 EXON Missense_A984G,Missense_A984G,Missense_A984G exm421141 4 119952887 [A/G] NM_001128934,NM_001128933,NM_133477 SYNPO2,SYNPO2,SYNPO2 EXON Missense_D986G,Missense_D986G,Missense_D986G exm421147 4 119952955 [T/C] NM_001128934,NM_001128933,NM_133477 SYNPO2,SYNPO2,SYNPO2 EXON Missense_R1009W,Missense_R1009W,Missense_R1009W exm2064644 4 119953186 [T/C] NM_001128934,NM_001128933,NM_133477 SYNPO2,SYNPO2,SYNPO2 EXON Silent,Missense_W1086R,Silent exm421166 4 119978601 [G/C] NM_133477 SYNPO2 EXON Missense_P1100A exm2064648 4 119978776 [T/C] NM_133477 SYNPO2 EXON Missense_A1158V exm421175 4 119978796 [T/C] NM_133477 SYNPO2 EXON Missense_R1165W exm421182 4 119978868 [A/G] NM_133477 SYNPO2 EXON Missense_A1189T exm2064654 4 119978923 [T/C] NM_133477 SYNPO2 EXON Missense_M1207T exm421187 4 119979001 [T/C] NM_133477 SYNPO2 EXON Missense_M1233T exm421189 4 119979058 [T/C] NM_133477 SYNPO2 EXON Missense_P1252L exm421193 4 120057709 [A/C] NM_016599 MYOZ2 EXON Missense_Q10P exm2256307 4 120057719 [A/G] NM_016599 MYOZ2 EXON Synonymous_Q13Q exm421198 4 120072096 [A/G] NM_016599 MYOZ2 EXON Missense_H49R exm2064665 4 120072195 [A/C] NM_016599 MYOZ2 EXON Missense_N82T exm421217 4 120085449 [A/C] NM_016599 MYOZ2 EXON Missense_Q154K exm421220 4 120085468 [T/C] NM_016599 MYOZ2 EXON Missense_P160L exm421222 4 120085477 [T/C] NM_016599 MYOZ2 EXON Missense_L163S exm421229 4 120107298 [A/G] NM_016599 MYOZ2 EXON Missense_I246M exm421242 4 120166520 [A/G] NM_019050 USP53 EXON Missense_R58Q exm421244 4 120169906 [T/A] NM_019050 USP53 EXON Missense_I81L exm421246 4 120169942 [T/C] NM_019050 USP53 EXON Missense_L93F exm421249 4 120170027 [T/C] NM_019050 USP53 EXON Missense_A121V exm2256308 4 120170028 [A/G] NM_019050 USP53 EXON Synonymous_A121A exm421251 4 120177489 [A/G] NM_019050 USP53 EXON Missense_K154R exm2064683 4 120177600 [T/C] NM_019050 USP53 EXON Missense_V164A exm421253 4 120177606 [A/G] NM_019050 USP53 EXON Missense_R166H exm421259 4 120181671 [A/G] NM_019050 USP53 EXON Missense_G229S exm421263 4 120181776 [T/C] NM_019050 USP53 EXON Missense_R264W exm2240362 4 120182915 [A/C] NM_019050 USP53 EXON Missense_N290H exm421277 4 120189540 [A/G] NM_019050 USP53 EXON Missense_R418Q exm421286 4 120190983 [T/C] NM_019050 USP53 EXON Nonsense_R476X exm421289 4 120192469 [T/C] NM_019050 USP53 EXON Missense_L485P exm421291 4 120192525 [T/A] NM_019050 USP53 EXON Missense_N504Y exm421297 4 120192664 [T/A] NM_019050 USP53 EXON Missense_V550D exm421298 4 120192676 [A/G] NM_019050 USP53 EXON Missense_N554S exm421300 4 120192717 [T/G] NM_019050 USP53 EXON Missense_D568Y exm421301 4 120192732 [T/G] NM_019050 USP53 EXON Missense_C573G exm2240365 4 120192753 [T/C] NM_019050 USP53 EXON Missense_R580W exm421305 4 120192853 [T/C] NM_019050 USP53 EXON Missense_I613T exm421306 4 120192864 [T/C] NM_019050 USP53 EXON Missense_P617S exm421312 4 120193017 [A/G] NM_019050 USP53 EXON Missense_G668S exm421337 4 120214030 [T/G] NM_019050 USP53 EXON Missense_S962R exm421338 4 120214049 [A/C] NM_019050 USP53 EXON Missense_P969T exm421340 4 120214185 [T/C] NM_019050 USP53 EXON Missense_I1014T exm2064712 4 120214277 [A/G] NM_019050 USP53 EXON Missense_M1045V exm421343 4 120214281 [T/C] NM_019050 USP53 EXON Missense_T1046M exm421354 4 120221607 [T/G] NM_001001701,NM_001170330 C4orf3,C4orf3 EXON Missense_F28L,Missense_F161L exm421355 4 120221621 [T/C] NM_001001701,NM_001170330 C4orf3,C4orf3 EXON Missense_G24R,Missense_G157R exm2064719 4 120221666 [G/C] NM_001001701,NM_001170330 C4orf3,C4orf3 EXON Missense_D9H,Missense_D142H exm421368 4 120240720 [A/G] NM_000134 FABP2 EXON Nonsense_R107X exm421380 4 120241902 [T/C] NM_000134 FABP2 EXON Missense_T55A exm2064726 4 120241988 [A/G] NM_000134 FABP2 EXON Missense_I26T exm421392 4 120419776 [T/C] NR_037630,NM_033437,NM_001083,NM_033430 LOC645513,PDE5A,PDE5A,PDE5A EXON Silent,Missense_G818S,Missense_G870S,Missense_G828S exm421395 4 120419806 [A/G] NR_037630,NM_033437,NM_001083,NM_033430 LOC645513,PDE5A,PDE5A,PDE5A EXON Silent,Nonsense_Q808X,Nonsense_Q860X,Nonsense_Q818X exm421405 4 120422407 [T/G] NM_033437,NM_001083,NM_033430 PDE5A,PDE5A,PDE5A EXON Missense_D751A,Missense_D803A,Missense_D761A exm421415 4 120423809 [A/G] NM_033437,NM_001083,NM_033430 PDE5A,PDE5A,PDE5A EXON Missense_I726T,Missense_I778T,Missense_I736T exm421421 4 120427058 [T/C] NM_033437,NM_001083,NM_033430 PDE5A,PDE5A,PDE5A EXON Missense_R688K,Missense_R740K,Missense_R698K exm421428 4 120440278 [A/G] NM_033437,NM_001083,NM_033430 PDE5A,PDE5A,PDE5A EXON Missense_L589P,Missense_L641P,Missense_L599P exm421449 4 120463726 [T/C] NM_033437,NM_001083,NM_033430 PDE5A,PDE5A,PDE5A EXON Missense_N435S,Missense_N487S,Missense_N445S exm421450 4 120463748 [T/G] NM_033437,NM_001083,NM_033430 PDE5A,PDE5A,PDE5A EXON Missense_K428Q,Missense_K480Q,Missense_K438Q exm421453 4 120474830 [A/C] NM_033437,NM_001083,NM_033430 PDE5A,PDE5A,PDE5A EXON Missense_I372S,Missense_I424S,Missense_I382S exm421454 4 120474857 [A/G] NM_033437,NM_001083,NM_033430 PDE5A,PDE5A,PDE5A EXON Missense_V363A,Missense_V415A,Missense_V373A exm421465 4 120484052 [A/G] NM_033437,NM_001083,NM_033430 PDE5A,PDE5A,PDE5A EXON Missense_A304V,Missense_A356V,Missense_A314V exm421467 4 120484068 [A/C] NM_033437,NM_001083,NM_033430 PDE5A,PDE5A,PDE5A EXON Missense_L299V,Missense_L351V,Missense_L309V exm421471 4 120488245 [T/C] NM_033437,NM_001083,NM_033430 PDE5A,PDE5A,PDE5A EXON Missense_T244A,Missense_T296A,Missense_T254A exm421484 4 120527940 [T/C] NM_033437,NM_001083,NM_033430 PDE5A,PDE5A,PDE5A EXON Missense_R170H,Missense_R222H,Missense_R180H exm421486 4 120528040 [A/G] NM_033437,NM_001083,NM_033430 PDE5A,PDE5A,PDE5A EXON Missense_L137F,Missense_L189F,Missense_L147F exm421488 4 120528064 [A/C] NM_033437,NM_001083,NM_033430 PDE5A,PDE5A,PDE5A EXON Missense_S129A,Missense_S181A,Missense_S139A exm421489 4 120528073 [A/C] NM_033437,NM_001083,NM_033430 PDE5A,PDE5A,PDE5A EXON Nonsense_G126X,Nonsense_G178X,Nonsense_G136X exm421501 4 120528327 [A/G] NM_033437,NM_001083,NM_033430 PDE5A,PDE5A,PDE5A EXON Missense_A41V,Missense_A93V,Missense_A51V exm421502 4 120528342 [T/C] NM_033437,NM_001083,NM_033430 PDE5A,PDE5A,PDE5A EXON Missense_R36H,Missense_R88H,Missense_R46H exm421505 4 120528397 [T/C] NM_033437,NM_001083,NM_033430 PDE5A,PDE5A,PDE5A EXON Missense_E18K,Missense_E70K,Missense_E28K exm2269962 4 120575619 [T/G] exm2256309 4 120601731 [T/G] exm2256310 4 120716967 [A/G] exm-rs1845344 4 120962385 [T/G] exm421535 4 120982115 [A/G] NM_002358 MAD2L1 EXON Missense_S120F exm2269832 4 121429891 [T/G] exm2265866 4 121441958 [A/G] exm-rs10017284 4 121513215 [A/G] exm421562 4 121631559 [A/G] NM_018699 PRDM5 EXON Missense_Y545H exm2269833 4 121648617 [T/C] NM_018699 PRDM5 Silent exm421576 4 121706162 [T/C] NM_018699 PRDM5 EXON Missense_I425V exm421587 4 121719544 [T/A] NM_018699 PRDM5 EXON Missense_S356T exm2064835 4 121737634 [T/C] NM_018699 PRDM5 EXON Missense_K280R exm421629 4 121739614 [A/G] NM_018699 PRDM5 EXON Missense_L182F exm421637 4 121742459 [T/G] NM_018699 PRDM5 EXON Missense_E114D exm421638 4 121774595 [T/C] NM_018699 PRDM5 EXON Missense_Q93R exm-rs180730 4 121801790 [A/G] NM_018699 PRDM5 Silent exm2261596 4 121957051 [T/C] NM_024574 NDNF EXON Silent exm421657 4 121957565 [T/G] NM_024574 NDNF EXON Missense_Q521K exm421668 4 121958002 [A/G] NM_024574 NDNF EXON Missense_T375I exm421685 4 121958293 [T/C] NM_024574 NDNF EXON Missense_R278H exm421695 4 121958425 [T/C] NM_024574 NDNF EXON Missense_D234G exm421698 4 121958473 [T/C] NM_024574 NDNF EXON Missense_E218G exm421700 4 121958524 [C/G] NM_024574 NDNF EXON Missense_T201S exm421702 4 121958561 [A/G] NM_024574 NDNF EXON Missense_R189C exm421708 4 121958707 [T/C] NM_024574 NDNF EXON Missense_S140N exm421715 4 121961159 [A/G] NM_024574 NDNF EXON Missense_T80M exm421725 4 122062981 [T/C] NM_024873,NM_001244764,NM_001128843 TNIP3,TNIP3,TNIP3 EXON Missense_R292Q,Missense_R369Q,Missense_R362Q exm421731 4 122068269 [T/C] NM_024873,NM_001244764,NM_001128843 TNIP3,TNIP3,TNIP3 EXON Missense_E224K,Missense_E301K,Missense_E294K exm421733 4 122068316 [T/G] NM_024873,NM_001244764,NM_001128843 TNIP3,TNIP3,TNIP3 EXON Missense_E208A,Missense_E285A,Missense_E278A exm421738 4 122071362 [A/C] NM_024873,NM_001244764,NM_001128843 TNIP3,TNIP3,TNIP3 EXON Missense_A169S,Missense_A246S,Missense_A239S exm421745 4 122075822 [A/G] NM_024873,NM_001244764,NM_001128843 TNIP3,TNIP3,TNIP3 EXON Missense_R126C,Missense_R203C,Missense_R196C exm421754 4 122078284 [T/G] NM_024873,NM_001244764,NM_001128843 TNIP3,TNIP3,TNIP3 EXON Missense_R110S,Missense_R187S,Missense_R180S exm2240379 4 122078300 [T/G] NM_024873,NM_001244764,NM_001128843 TNIP3,TNIP3,TNIP3 EXON Missense_R104S,Missense_R181S,Missense_R174S exm421761 4 122078317 [T/C] NM_024873,NM_001244764,NM_001128843 TNIP3,TNIP3,TNIP3 EXON Missense_K99E,Missense_K176E,Missense_K169E exm421762 4 122078341 [T/C] NM_024873,NM_001244764,NM_001128843 TNIP3,TNIP3,TNIP3 EXON Missense_K91E,Missense_K168E,Missense_K161E exm421769 4 122082339 [A/C] NM_024873,NM_001244764,NM_001128843 TNIP3,TNIP3,TNIP3 EXON Missense_M33I,Missense_M110I,Missense_M103I exm421771 4 122085228 [A/G] NM_024873,NM_001244764,NM_001128843 TNIP3,TNIP3,TNIP3 EXON Missense_T18M,Missense_T95M,Missense_T88M exm2269834 4 122205406 [T/C] exm421782 4 122250537 [A/G] NM_198179 QRFPR EXON Missense_L410F exm421785 4 122250555 [T/C] NM_198179 QRFPR EXON Missense_T404A exm421786 4 122250603 [T/C] NM_198179 QRFPR EXON Missense_G388R exm421788 4 122250654 [A/G] NM_198179 QRFPR EXON Missense_R371W exm421790 4 122250734 [A/G] NM_198179 QRFPR EXON Missense_L344S exm421796 4 122251598 [T/C] NM_198179 QRFPR EXON Missense_H293R exm421800 4 122254003 [T/C] NM_198179 QRFPR EXON Missense_H257R exm421802 4 122254013 [A/G] NM_198179 QRFPR EXON Nonsense_R254X exm421805 4 122254025 [A/C] NM_198179 QRFPR EXON Missense_G250C exm421806 4 122254078 [A/C] NM_198179 QRFPR EXON Missense_I232S exm421808 4 122254142 [C/G] NM_198179 QRFPR EXON Missense_Q211E exm421821 4 122261613 [T/C] NM_198179 QRFPR EXON Missense_M165V exm421825 4 122261659 [A/C] NM_198179 QRFPR EXON Missense_H149Q exm421827 4 122261745 [A/C] NM_198179 QRFPR EXON Missense_V121L exm421831 4 122301534 [T/C] NM_198179 QRFPR EXON Missense_S90N exm421836 4 122301597 [A/C] NM_198179 QRFPR EXON Missense_V69G exm2064916 4 122301601 [A/G] NM_198179 QRFPR EXON Missense_Y68H exm421839 4 122301649 [T/C] NM_198179 QRFPR EXON Missense_G52S exm421842 4 122301703 [A/G] NM_198179 QRFPR EXON Missense_L34F exm421847 4 122301738 [T/C] NM_198179 QRFPR EXON Missense_R22Q exm421858 4 122590824 [A/G] NM_001154 ANXA5 EXON Missense_I279T exm421861 4 122590846 [T/C] NM_001154 ANXA5 EXON Missense_V272I exm421866 4 122591118 [A/G] NM_001154 ANXA5 EXON Synonymous_Y257Y exm2256315 4 122591118 [A/G] NM_001154 ANXA5 EXON Synonymous_Y257Y exm421867 4 122591155 [T/C] NM_001154 ANXA5 EXON Missense_R245Q exm421874 4 122593711 [T/C] NM_001154 ANXA5 EXON Missense_R201Q exm421875 4 122593712 [A/G] NM_001154 ANXA5 EXON Nonsense_R201X exm421877 4 122599053 [A/G] NM_001154 ANXA5 EXON Missense_A176V exm2256316 4 122599070 [A/G] NM_001154 ANXA5 EXON Synonymous_A170A exm421885 4 122599623 [T/C] NM_001154 ANXA5 EXON Missense_V141M exm421889 4 122604526 [A/G] NM_001154 ANXA5 EXON Missense_A99V exm421892 4 122604580 [A/G] NM_001154 ANXA5 EXON Missense_I81T exm421910 4 122617780 [G/C] NM_001154 ANXA5 Silent exm2265750 4 122664323 [A/G] exm-rs7659604 4 122665514 [T/C] exm421916 4 122681490 [T/C] NM_152399 TMEM155 EXON Missense_R118G exm421918 4 122681571 [A/G] NM_152399 TMEM155 EXON Missense_R91W exm421920 4 122681615 [T/G] NM_152399 TMEM155 EXON Missense_P76H exm421921 4 122682708 [T/C] NM_152399 TMEM155 EXON Nonsense_W66X exm421922 4 122682720 [T/C] NM_152399 TMEM155 EXON Missense_R62H exm421926 4 122682779 [A/T] NM_152399 TMEM155 EXON Missense_R42S exm421930 4 122683007 [A/G] NM_152399 TMEM155 EXON Missense_A11V exm421933 4 122683047 [T/C] NM_152399 TMEM155 EXON Silent exm2265867 4 122703201 [A/G] exm421937 4 122722620 [T/C] NM_001034194,NM_005033 EXOSC9,EXOSC9 EXON Missense_L14P,Missense_L14P exm421957 4 122725835 [T/C] NM_001034194,NM_005033 EXOSC9,EXOSC9 EXON Missense_A148V,Missense_A148V exm421963 4 122725915 [A/G] NM_001034194,NM_005033 EXOSC9,EXOSC9 Silent,Silent exm421966 4 122728748 [T/G] NM_001034194,NM_005033 EXOSC9,EXOSC9 EXON Missense_I192M,Missense_I192M exm421976 4 122732768 [A/G] NM_001034194,NM_005033 EXOSC9,EXOSC9 EXON Missense_K257E,Missense_K257E exm421981 4 122734423 [A/G] NM_001034194,NM_005033 EXOSC9,EXOSC9 EXON Missense_I288V,Missense_I288V exm421983 4 122734475 [T/C] NM_001034194,NM_005033 EXOSC9,EXOSC9 EXON Missense_T305I,Missense_T305I exm2064972 4 122734531 [A/G] NM_001034194,NM_005033 EXOSC9,EXOSC9 EXON Missense_E324K,Missense_E324K exm421993 4 122735142 [A/G] NM_001034194,NM_005033 EXOSC9,EXOSC9 EXON Missense_I366V,Missense_I366V exm422000 4 122737965 [G/C] NM_001034194,NM_005033,NM_001237 EXOSC9,EXOSC9,CCNA2 EXON Missense_S442T,Missense_S425T,Silent exm422005 4 122738801 [A/T] NM_001237 CCNA2 EXON Missense_N431Y exm422024 4 122742165 [T/A] NM_001237 CCNA2 EXON Missense_E180V exm422027 4 122742217 [T/C] NM_001237 CCNA2 EXON Missense_I163V exm422031 4 122743678 [T/G] NM_001237 CCNA2 EXON Missense_K113Q exm422032 4 122743681 [T/C] NM_001237 CCNA2 EXON Missense_K112E exm422046 4 122747017 [A/G] NM_176824 BBS7 EXON Missense_X716R exm-rs1507995 4 122748308 [A/G] NM_176824 BBS7 Silent exm422060 4 122754459 [T/G] NM_176824,NM_018190 BBS7,BBS7 EXON Missense_P535T,Missense_P535T exm422064 4 122756305 [T/C] NM_176824,NM_018190 BBS7,BBS7 EXON Missense_H502R,Missense_H502R exm422067 4 122756435 [A/G] NM_176824,NM_018190 BBS7,BBS7 EXON Missense_R459C,Missense_R459C exm422072 4 122765124 [A/T] NM_176824,NM_018190 BBS7,BBS7 EXON Missense_D421E,Missense_D421E exm422073 4 122765152 [T/C] NM_176824,NM_018190 BBS7,BBS7 EXON Missense_D412G,Missense_D412G exm422079 4 122766792 [A/G] NM_176824,NM_018190 BBS7,BBS7 EXON Missense_S366F,Missense_S366F exm422090 4 122774122 [A/G] NM_176824,NM_018190 BBS7,BBS7 EXON Nonsense_R280X,Nonsense_R280X exm2065026 4 122780167 [T/C] NM_176824,NM_018190 BBS7,BBS7 EXON Missense_R170G,Missense_R170G exm2065028 4 122782720 [A/T] NM_176824,NM_018190 BBS7,BBS7 EXON Missense_T94S,Missense_T94S exm422106 4 122782777 [T/C] NM_176824,NM_018190 BBS7,BBS7 EXON Missense_I75V,Missense_I75V exm422123 4 122800971 [T/C] NM_003305,NM_001130698 TRPC3,TRPC3 EXON Missense_S823G,Missense_S896G exm422140 4 122825566 [T/C] NM_003305,NM_001130698 TRPC3,TRPC3 EXON Missense_V649I,Missense_V722I exm422166 4 122833191 [T/C] NM_003305,NM_001130698 TRPC3,TRPC3 EXON Missense_I394V,Missense_I467V exm422170 4 122835991 [T/C] NM_003305,NM_001130698 TRPC3,TRPC3 EXON Missense_V356M,Missense_V429M exm422177 4 122846193 [T/C] NM_003305,NM_001130698 TRPC3,TRPC3 EXON Missense_I313V,Missense_I386V exm2269835 4 122978844 [T/C] exm422219 4 123094236 [A/C] NM_015312 KIAA1109 EXON Missense_N48T exm422220 4 123094279 [T/A] NM_015312 KIAA1109 EXON Missense_R62S exm422223 4 123095797 [A/G] NM_015312 KIAA1109 EXON Missense_M95V exm422232 4 123107337 [T/C] NM_015312 KIAA1109 EXON Missense_R169W exm422249 4 123109119 [A/G] NM_015312 KIAA1109 EXON Missense_T233A exm422257 4 123113393 [T/C] NM_015312 KIAA1109 EXON Missense_P304L exm422260 4 123113428 [A/G] NM_015312 KIAA1109 EXON Missense_S316G exm422263 4 123113521 [A/G] NM_015312 KIAA1109 EXON Missense_A347T exm-rs13151961 4 123115502 [A/G] NM_015312 KIAA1109 Silent exm422292 4 123130479 [A/G] NM_015312 KIAA1109 EXON Missense_V640I exm422295 4 123130998 [T/G] NM_015312 KIAA1109 EXON Missense_V653F exm2240389 4 123131055 [T/G] NM_015312 KIAA1109 EXON Missense_A672S exm-rs4505848 4 123132492 [A/G] NM_015312 KIAA1109 Silent exm422323 4 123150286 [T/C] NM_015312 KIAA1109 EXON Missense_I978T exm422324 4 123150288 [T/C] NM_015312 KIAA1109 EXON Missense_P979S exm422325 4 123150327 [A/G] NM_015312 KIAA1109 EXON Missense_M992V exm422329 4 123151089 [A/G] NM_015312 KIAA1109 EXON Missense_G1016S exm422348 4 123160682 [A/G] NM_015312 KIAA1109 EXON Missense_E1282G exm422353 4 123160999 [A/G] NM_015312 KIAA1109 EXON Missense_M1388V exm422359 4 123161348 [A/G] NM_015312 KIAA1109 EXON Missense_Q1504R exm422361 4 123161375 [T/C] NM_015312 KIAA1109 EXON Missense_I1513T exm422366 4 123164153 [A/G] NM_015312 KIAA1109 EXON Missense_V1558I exm422373 4 123166185 [A/G] NM_015312 KIAA1109 EXON Missense_A1643T exm422374 4 123166228 [T/C] NM_015312 KIAA1109 EXON Missense_V1657A exm422379 4 123167395 [T/C] NM_015312 KIAA1109 EXON Missense_T1709I exm422381 4 123167439 [A/G] NM_015312 KIAA1109 EXON Missense_V1724I exm422382 4 123167847 [T/C] NM_015312 KIAA1109 EXON Missense_C1732R exm422391 4 123168372 [A/G] NM_015312 KIAA1109 EXON Missense_R1791K exm422400 4 123171659 [A/T] NM_015312 KIAA1109 EXON Missense_D1951E exm422402 4 123175434 [A/G] NM_015312 KIAA1109 EXON Missense_I2003V exm422422 4 123179900 [T/C] NM_015312 KIAA1109 EXON Missense_R2222W exm2240393 4 123184136 [C/G] NM_015312 KIAA1109 EXON Missense_T2327R exm422435 4 123184608 [A/G] NM_015312 KIAA1109 EXON Missense_A2332T exm422445 4 123192240 [A/C] NM_015312 KIAA1109 EXON Missense_S2521R exm422457 4 123192643 [A/G] NM_015312 KIAA1109 EXON Missense_K2655R exm422464 4 123193525 [T/C] NM_015312 KIAA1109 EXON Missense_I2804T exm2240396 4 123197152 [A/G] NM_015312 KIAA1109 EXON Missense_T2856A exm422476 4 123202746 [A/G] NM_015312 KIAA1109 EXON Missense_T2952A exm422481 4 123207846 [A/G] NM_015312 KIAA1109 EXON Missense_H3063R exm-rs13119723 4 123218313 [A/G] NM_015312 KIAA1109 Silent exm422519 4 123249341 [C/G] NM_015312 KIAA1109 EXON Missense_C3693S exm422520 4 123249358 [A/C] NM_015312 KIAA1109 EXON Missense_P3699T exm422521 4 123249383 [T/C] NM_015312 KIAA1109 EXON Missense_P3707L exm422522 4 123249392 [T/C] NM_015312 KIAA1109 EXON Missense_P3710L exm422526 4 123249462 [A/C] NM_015312 KIAA1109 EXON Missense_E3733D exm422532 4 123252539 [T/C] NM_015312 KIAA1109 EXON Missense_R3770C exm422533 4 123252551 [A/C] NM_015312 KIAA1109 EXON Missense_T3774P exm422537 4 123254784 [A/G] NM_015312 KIAA1109 EXON Synonymous_R3822R exm422544 4 123255610 [A/G] NM_015312 KIAA1109 EXON Missense_A3920T exm422551 4 123257350 [A/G] NM_015312 KIAA1109 EXON Missense_K3951R exm422576 4 123268859 [A/G] NM_015312 KIAA1109 EXON Missense_T4352A exm422603 4 123277001 [A/G] NM_015312 KIAA1109 EXON Missense_T4786A exm422611 4 123280769 [T/C] NM_015312 KIAA1109 EXON Missense_I4898T exm422618 4 123301250 [A/G] NM_139243,NM_001159285,NM_001159295 ADAD1,ADAD1,ADAD1 EXON Missense_Q9R,Missense_Q9R,Silent exm422630 4 123302249 [A/G] NM_139243,NM_001159285,NM_001159295 ADAD1,ADAD1,ADAD1 EXON Missense_R92H,Missense_R92H,Missense_R74H exm422631 4 123302255 [A/G] NM_139243,NM_001159285,NM_001159295 ADAD1,ADAD1,ADAD1 EXON Missense_E94G,Missense_E94G,Missense_E76G exm-rs17388568 4 123329362 [A/G] NM_139243,NM_001159285,NM_001159295 ADAD1,ADAD1,ADAD1 Silent,Silent,Silent exm422655 4 123336536 [A/G] NM_139243,NM_001159285,NM_001159295 ADAD1,ADAD1,ADAD1 EXON Missense_D418N,Missense_D407N,Missense_D400N exm2240402 4 123336725 [T/G] NM_139243,NM_001159285,NM_001159295 ADAD1,ADAD1,ADAD1 EXON Missense_V481F,Missense_V470F,Missense_V463F exm2256318 4 123342476 [T/C] NM_139243,NM_001159285,NM_001159295 ADAD1,ADAD1,ADAD1 EXON Synonymous_S516S,Synonymous_S505S,Synonymous_S498S exm422666 4 123342476 [T/C] NM_139243,NM_001159285,NM_001159295 ADAD1,ADAD1,ADAD1 EXON Synonymous_S516S,Synonymous_S505S,Synonymous_S498S exm422667 4 123342477 [T/C] NM_139243,NM_001159285,NM_001159295 ADAD1,ADAD1,ADAD1 EXON Missense_R517W,Missense_R506W,Missense_R499W exm422684 4 123377467 [A/C] NM_000586 IL2 EXON Missense_M43I exm-rs6852535 4 123478716 [A/G] exm2265868 4 123501663 [A/G] exm-rs6822844 4 123509421 [T/G] exm422701 4 123536860 [T/C] NM_001207006,NM_021803 IL21,IL21 EXON Missense_G113R,Missense_G113R exm422702 4 123536862 [A/G] NM_001207006,NM_021803 IL21,IL21 EXON Missense_A112V,Missense_A112V exm422710 4 123542048 [T/C] NM_001207006,NM_021803 IL21,IL21 EXON Missense_R40H,Missense_R40H exm422721 4 123663163 [T/C] NM_001178007,NM_152618 BBS12,BBS12 EXON Missense_I39T,Missense_I39T exm422725 4 123663259 [A/G] NM_001178007,NM_152618 BBS12,BBS12 EXON Missense_N71S,Missense_N71S exm422729 4 123663391 [T/C] NM_001178007,NM_152618 BBS12,BBS12 EXON Missense_V115A,Missense_V115A exm422730 4 123663402 [A/G] NM_001178007,NM_152618 BBS12,BBS12 EXON Missense_G119S,Missense_G119S exm422731 4 123663425 [T/G] NM_001178007,NM_152618 BBS12,BBS12 EXON Missense_E126D,Missense_E126D exm422738 4 123663761 [T/G] NM_001178007,NM_152618 BBS12,BBS12 EXON Missense_N238K,Missense_N238K exm422741 4 123663870 [T/G] NM_001178007,NM_152618 BBS12,BBS12 EXON Missense_L275V,Missense_L275V exm422743 4 123663958 [A/G] NM_001178007,NM_152618 BBS12,BBS12 EXON Missense_C304Y,Missense_C304Y exm422747 4 123664026 [A/T] NM_001178007,NM_152618 BBS12,BBS12 EXON Missense_S327T,Missense_S327T exm422751 4 123664150 [A/G] NM_001178007,NM_152618 BBS12,BBS12 EXON Missense_R368H,Missense_R368H exm422754 4 123664203 [T/C] NM_001178007,NM_152618 BBS12,BBS12 EXON Missense_R386W,Missense_R386W exm422755 4 123664204 [A/G] NM_001178007,NM_152618 BBS12,BBS12 EXON Missense_R386Q,Missense_R386Q exm2065292 4 123664254 [A/G] NM_001178007,NM_152618 BBS12,BBS12 EXON Missense_V403M,Missense_V403M exm422765 4 123664308 [A/C] NM_001178007,NM_152618 BBS12,BBS12 EXON Missense_R421S,Missense_R421S exm422768 4 123664333 [G/C] NM_001178007,NM_152618 BBS12,BBS12 EXON Missense_S429T,Missense_S429T exm422772 4 123664428 [A/C] NM_001178007,NM_152618 BBS12,BBS12 EXON Missense_N461H,Missense_N461H exm422774 4 123664446 [A/G] NM_001178007,NM_152618 BBS12,BBS12 EXON Missense_D467N,Missense_D467N exm422778 4 123664498 [A/G] NM_001178007,NM_152618 BBS12,BBS12 EXON Missense_R484K,Missense_R484K exm422780 4 123664512 [A/G] NM_001178007,NM_152618 BBS12,BBS12 EXON Missense_A489T,Missense_A489T exm2256319 4 123664514 [A/G] NM_001178007,NM_152618 BBS12,BBS12 EXON Synonymous_A489A,Synonymous_A489A exm422783 4 123664546 [T/C] NM_001178007,NM_152618 BBS12,BBS12 EXON Missense_V500A,Missense_V500A exm422794 4 123664894 [A/G] NM_001178007,NM_152618 BBS12,BBS12 EXON Missense_S616N,Missense_S616N exm422797 4 123664906 [A/G] NM_001178007,NM_152618 BBS12,BBS12 EXON Missense_Q620R,Missense_Q620R exm2265751 4 123671984 [A/G] exm2256321 4 123747942 [C/G] NM_002006 FGF2 EXON Synonymous_V4V exm422813 4 123747943 [C/G] NM_002006 FGF2 EXON Missense_G5R exm2065299 4 123747947 [A/G] NM_002006 FGF2 EXON Missense_G6D exm422832 4 123797480 [T/G] NM_002006 FGF2 EXON Missense_K194N exm422835 4 123797526 [G/C] NM_002006 FGF2 EXON Missense_V210L exm422851 4 123814164 [A/G] NM_002006,NM_198041,NM_007083 FGF2,NUDT6,NUDT6 EXON Silent,Missense_T88I,Missense_T257I exm422852 4 123814170 [A/G] NM_002006,NM_198041,NM_007083 FGF2,NUDT6,NUDT6 EXON Silent,Missense_A86V,Missense_A255V exm422857 4 123814251 [T/C] NM_002006,NM_198041,NM_007083 FGF2,NUDT6,NUDT6 EXON Silent,Missense_R59H,Missense_R228H exm422859 4 123814308 [T/C] NM_002006,NM_198041,NM_007083 FGF2,NUDT6,NUDT6 EXON Silent,Missense_R40Q,Missense_R209Q exm2240405 4 123814321 [T/C] NM_002006,NM_198041,NM_007083 FGF2,NUDT6,NUDT6 EXON Silent,Missense_V36I,Missense_V205I exm422861 4 123814345 [T/C] NM_002006,NM_198041,NM_007083 FGF2,NUDT6,NUDT6 EXON Silent,Missense_G28S,Missense_G197S exm2065326 4 123838685 [C/G] NM_198041,NM_007083 NUDT6,NUDT6 EXON Silent,Missense_G138A exm422870 4 123838758 [A/G] NM_198041,NM_007083 NUDT6,NUDT6 EXON Silent,Missense_C114R exm422880 4 123843564 [T/C] NM_198041,NM_007083 NUDT6,NUDT6 EXON Silent,Missense_G55D exm2065339 4 123844358 [T/C] NM_145207 SPATA5 EXON Missense_P21S exm422895 4 123844377 [C/G] NM_145207 SPATA5 EXON Missense_C27S exm422906 4 123850273 [T/G] NM_145207 SPATA5 EXON Missense_V123L exm422915 4 123855383 [A/G] NM_145207 SPATA5 EXON Missense_D213N exm422922 4 123855512 [A/G] NM_145207 SPATA5 EXON Missense_I256V exm422923 4 123855513 [T/C] NM_145207 SPATA5 EXON Missense_I256T exm422925 4 123855576 [T/A] NM_145207 SPATA5 EXON Missense_D277V exm422927 4 123855642 [T/G] NM_145207 SPATA5 EXON Missense_G299V exm422929 4 123855792 [A/G] NM_145207 SPATA5 EXON Missense_K349R exm422934 4 123856880 [T/C] NM_145207 SPATA5 EXON Missense_P387S exm2065360 4 123868545 [T/G] NM_145207 SPATA5 EXON Missense_R539M exm422953 4 123868550 [T/C] NM_145207 SPATA5 EXON Missense_P541S exm422954 4 123868551 [C/G] NM_145207 SPATA5 EXON Missense_P541R exm422959 4 123868644 [A/G] NM_145207 SPATA5 Silent exm422968 4 123949435 [A/G] NM_145207 SPATA5 EXON Missense_R655Q exm422974 4 123977543 [A/G] NM_145207 SPATA5 EXON Missense_G694E exm422977 4 124011739 [T/C] NM_145207 SPATA5 EXON Missense_L740S exm2269964 4 124087900 [T/G] NM_145207 SPATA5 Silent exm422984 4 124177286 [T/C] NM_145207 SPATA5 EXON Missense_V819A exm422987 4 124177315 [T/G] NM_145207 SPATA5 EXON Missense_D829Y exm2265752 4 124303285 [A/G] exm423001 4 124322817 [A/G] NM_199327,NM_001258038,NM_001258039,NM_005841 SPRY1,SPRY1,SPRY1,SPRY1 EXON Missense_R24H,Missense_R24H,Missense_R24H,Missense_R24H exm423002 4 124322832 [A/G] NM_199327,NM_001258038,NM_001258039,NM_005841 SPRY1,SPRY1,SPRY1,SPRY1 EXON Missense_Y29C,Missense_Y29C,Missense_Y29C,Missense_Y29C exm423004 4 124322855 [A/G] NM_199327,NM_001258038,NM_001258039,NM_005841 SPRY1,SPRY1,SPRY1,SPRY1 EXON Missense_A37T,Missense_A37T,Missense_A37T,Missense_A37T exm423012 4 124322943 [A/G] NM_199327,NM_001258038,NM_001258039,NM_005841 SPRY1,SPRY1,SPRY1,SPRY1 EXON Missense_R66Q,Missense_R66Q,Missense_R66Q,Missense_R66Q exm2240407 4 124322952 [T/C] NM_199327,NM_001258038,NM_001258039,NM_005841 SPRY1,SPRY1,SPRY1,SPRY1 EXON Missense_P69L,Missense_P69L,Missense_P69L,Missense_P69L exm423021 4 124323155 [A/G] NM_199327,NM_001258038,NM_001258039,NM_005841 SPRY1,SPRY1,SPRY1,SPRY1 EXON Missense_G137R,Missense_G137R,Missense_G137R,Missense_G137R exm2065384 4 124323177 [G/C] NM_199327,NM_001258038,NM_001258039,NM_005841 SPRY1,SPRY1,SPRY1,SPRY1 EXON Missense_P144R,Missense_P144R,Missense_P144R,Missense_P144R exm2269965 4 125318885 [T/C] exm2256325 4 125380922 [A/G] exm423051 4 125590277 [T/C] NM_020337,NM_001167882 ANKRD50,ANKRD50 EXON Missense_M1385I,Missense_M1206I exm423056 4 125590489 [T/C] NM_020337,NM_001167882 ANKRD50,ANKRD50 EXON Missense_T1315A,Missense_T1136A exm423057 4 125590492 [T/C] NM_020337,NM_001167882 ANKRD50,ANKRD50 EXON Missense_G1314R,Missense_G1135R exm423087 4 125591188 [T/C] NM_020337,NM_001167882 ANKRD50,ANKRD50 EXON Missense_M1082V,Missense_M903V exm423088 4 125591194 [T/C] NM_020337,NM_001167882 ANKRD50,ANKRD50 EXON Missense_T1080A,Missense_T901A exm423091 4 125591345 [G/C] NM_020337,NM_001167882 ANKRD50,ANKRD50 EXON Missense_Q1029H,Missense_Q850H exm423113 4 125591832 [A/G] NM_020337,NM_001167882 ANKRD50,ANKRD50 EXON Missense_I867T,Missense_I688T exm423154 4 125592643 [A/C] NM_020337,NM_001167882 ANKRD50,ANKRD50 EXON Missense_L597V,Missense_L418V exm423164 4 125592846 [T/C] NM_020337,NM_001167882 ANKRD50,ANKRD50 EXON Missense_R529Q,Missense_R350Q exm423181 4 125593261 [T/C] NM_020337,NM_001167882 ANKRD50,ANKRD50 EXON Missense_I391V,Missense_I212V exm423193 4 125593633 [G/C] NM_020337,NM_001167882 ANKRD50,ANKRD50 EXON Missense_Q267E,Missense_Q88E exm423199 4 125599898 [T/A] NM_020337,NM_001167882 ANKRD50,ANKRD50 EXON Missense_F225L,Missense_F46L exm423204 4 125599975 [A/T] NM_020337,NM_001167882 ANKRD50,ANKRD50 EXON Missense_I200F,Missense_I21F exm423213 4 125631261 [A/G] NM_020337,NM_001167882 ANKRD50,ANKRD50 EXON Missense_R136C,Silent exm2265754 4 125807868 [A/G] exm-rs1986655 4 125993502 [A/G] exm423234 4 126237639 [T/C] NM_024582 FAT4 EXON Missense_L25F exm423236 4 126237697 [A/C] NM_024582 FAT4 EXON Missense_E44A exm423237 4 126237751 [C/G] NM_024582 FAT4 EXON Missense_G62A exm423248 4 126238090 [T/G] NM_024582 FAT4 EXON Missense_R175L exm423252 4 126238305 [A/C] NM_024582 FAT4 EXON Missense_P247T exm2065433 4 126238327 [T/A] NM_024582 FAT4 EXON Missense_H254L exm423258 4 126238395 [A/G] NM_024582 FAT4 EXON Missense_A277T exm423277 4 126238838 [A/C] NM_024582 FAT4 EXON Missense_S424R exm423281 4 126238924 [A/T] NM_024582 FAT4 EXON Missense_Q453L exm423297 4 126239421 [T/C] NM_024582 FAT4 EXON Missense_R619C exm2275769 4 126239782 [A/G] NM_024582 FAT4 EXON Missense_N739S exm423321 4 126239986 [T/C] NM_024582 FAT4 EXON Missense_A807V exm423326 4 126240377 [T/G] NM_024582 FAT4 EXON Missense_K937N exm423331 4 126240463 [T/C] NM_024582 FAT4 EXON Missense_I966T exm2256327 4 126240485 [T/C] NM_024582 FAT4 EXON Synonymous_V973V exm423334 4 126240485 [T/C] NM_024582 FAT4 EXON Synonymous_V973V exm423337 4 126240615 [A/G] NM_024582 FAT4 EXON Missense_K1017E exm423343 4 126240744 [T/C] NM_024582 FAT4 EXON Missense_R1060C exm423345 4 126240778 [T/C] NM_024582 FAT4 EXON Missense_V1071A exm423352 4 126240968 [A/T] NM_024582 FAT4 EXON Missense_E1134D exm423354 4 126240990 [A/G] NM_024582 FAT4 EXON Missense_V1142M exm423358 4 126241071 [T/C] NM_024582 FAT4 EXON Missense_R1169W exm423362 4 126241208 [T/G] NM_024582 FAT4 EXON Missense_F1214L exm423365 4 126241248 [G/C] NM_024582 FAT4 EXON Missense_Q1228E exm423368 4 126241335 [C/G] NM_024582 FAT4 EXON Missense_Q1257E exm423372 4 126241528 [T/C] NM_024582 FAT4 EXON Missense_F1321S exm423377 4 126241647 [A/G] NM_024582 FAT4 EXON Missense_G1361R exm423380 4 126241720 [T/C] NM_024582 FAT4 EXON Missense_L1385S exm423381 4 126241735 [T/C] NM_024582 FAT4 EXON Missense_I1390T exm423383 4 126241785 [A/G] NM_024582 FAT4 EXON Missense_V1407I exm423384 4 126241816 [A/C] NM_024582 FAT4 EXON Missense_P1417H exm423388 4 126241869 [A/G] NM_024582 FAT4 EXON Missense_I1435V exm423393 4 126241998 [A/C] NM_024582 FAT4 EXON Missense_I1478L exm423413 4 126242519 [A/G] NM_024582 FAT4 EXON Missense_I1651M exm423425 4 126320038 [A/G] NM_024582 FAT4 EXON Missense_I1759V exm423433 4 126328107 [A/G] NM_024582 FAT4 EXON Missense_G1794R exm423435 4 126328128 [T/C] NM_024582 FAT4 EXON Missense_R1801W exm423446 4 126329626 [T/C] NM_024582 FAT4 EXON Missense_T1866M exm423458 4 126329821 [A/G] NM_024582 FAT4 EXON Missense_Y1931C exm423464 4 126336089 [A/C] NM_024582 FAT4 EXON Missense_Q1991K exm423465 4 126336105 [A/G] NM_024582 FAT4 EXON Missense_K1996R exm423470 4 126336212 [A/G] NM_024582 FAT4 EXON Missense_T2032A exm2256328 4 126336265 [A/G] NM_024582 FAT4 EXON Synonymous_P2049P exm423482 4 126336596 [A/G] NM_024582 FAT4 EXON Missense_K2160E exm423497 4 126336849 [T/C] NM_024582 FAT4 EXON Missense_T2244M exm423499 4 126336851 [A/G] NM_024582 FAT4 EXON Missense_V2245I exm423508 4 126337736 [T/C] NM_024582 FAT4 EXON Missense_T2326I exm423509 4 126337744 [T/C] NM_024582 FAT4 EXON Missense_R2329C exm423513 4 126355433 [A/G] NM_024582 FAT4 EXON Missense_N2351S exm423522 4 126355528 [A/G] NM_024582 FAT4 EXON Missense_V2383I exm423524 4 126355577 [T/C] NM_024582 FAT4 EXON Missense_I2399T exm2265755 4 126357469 [A/G] NM_024582 FAT4 Silent exm423526 4 126367479 [A/T] NM_024582 FAT4 EXON Missense_T2409S exm423528 4 126367512 [A/T] NM_024582 FAT4 EXON Missense_S2420C exm423532 4 126367606 [T/G] NM_024582 FAT4 EXON Missense_S2451I exm423534 4 126369617 [T/C] NM_024582 FAT4 EXON Synonymous_G2482G exm423536 4 126369744 [A/G] NM_024582 FAT4 EXON Missense_A2525T exm423545 4 126369952 [T/C] NM_024582 FAT4 EXON Missense_L2594S exm423555 4 126370243 [T/C] NM_024582 FAT4 EXON Missense_S2691L exm423567 4 126370455 [A/C] NM_024582 FAT4 EXON Missense_N2762H exm423574 4 126370647 [A/G] NM_024582 FAT4 EXON Missense_D2826N exm423584 4 126370896 [T/C] NM_024582 FAT4 EXON Missense_Y2909H exm423586 4 126370986 [A/G] NM_024582 FAT4 EXON Missense_T2939A exm423587 4 126371007 [A/G] NM_024582 FAT4 EXON Missense_I2946V exm423613 4 126371767 [A/G] NM_024582 FAT4 EXON Missense_Y3199C exm423616 4 126371814 [T/C] NM_024582 FAT4 EXON Missense_H3215Y exm423638 4 126372200 [T/G] NM_024582 FAT4 EXON Missense_K3343N exm423660 4 126372725 [A/G] NM_024582 FAT4 EXON Missense_M3518I exm423662 4 126372735 [T/C] NM_024582 FAT4 EXON Missense_R3522W exm423664 4 126372742 [A/G] NM_024582 FAT4 EXON Missense_G3524D exm423673 4 126372975 [A/C] NM_024582 FAT4 EXON Missense_I3602L exm423675 4 126373018 [T/C] NM_024582 FAT4 EXON Missense_T3616M exm423680 4 126373218 [A/G] NM_024582 FAT4 EXON Missense_V3683I exm423687 4 126373318 [A/G] NM_024582 FAT4 EXON Missense_R3716H exm423689 4 126373425 [A/G] NM_024582 FAT4 EXON Missense_S3752G exm423696 4 126373543 [T/C] NM_024582 FAT4 EXON Missense_L3791P exm423698 4 126373570 [T/C] NM_024582 FAT4 EXON Missense_S3800F exm423699 4 126373594 [A/G] NM_024582 FAT4 EXON Missense_H3808R exm423702 4 126373653 [A/G] NM_024582 FAT4 EXON Missense_K3828E exm423706 4 126373789 [A/G] NM_024582 FAT4 EXON Missense_S3873N exm2256329 4 126373835 [T/C] NM_024582 FAT4 EXON Synonymous_C3888C exm423708 4 126373858 [T/C] NM_024582 FAT4 EXON Missense_A3896V exm423719 4 126389778 [T/C] NM_024582 FAT4 EXON Missense_T4004M exm423722 4 126389793 [T/C] NM_024582 FAT4 EXON Missense_A4009V exm423724 4 126389831 [T/C] NM_024582 FAT4 EXON Missense_R4022W exm423725 4 126389832 [A/G] NM_024582 FAT4 EXON Missense_R4022Q exm423727 4 126389846 [A/G] NM_024582 FAT4 EXON Missense_A4027T exm423737 4 126398352 [C/G] NM_024582 FAT4 EXON Missense_I4112M exm423750 4 126400922 [T/C] NM_024582 FAT4 EXON Missense_T4167I exm2240417 4 126400970 [T/G] NM_024582 FAT4 EXON Missense_W4183L exm423754 4 126402718 [A/G] NM_024582 FAT4 EXON Missense_R4214H exm423757 4 126402750 [T/C] NM_024582 FAT4 EXON Missense_R4225W exm423759 4 126402787 [T/C] NM_024582 FAT4 EXON Missense_M4237T exm423760 4 126402840 [A/G] NM_024582 FAT4 EXON Missense_E4255K exm423765 4 126408528 [T/C] NM_024582 FAT4 EXON Missense_S4282F exm423773 4 126408663 [A/G] NM_024582 FAT4 EXON Missense_D4327G exm423782 4 126411082 [A/G] NM_024582 FAT4 EXON Missense_M4369V exm423791 4 126411388 [A/G] NM_024582 FAT4 EXON Missense_V4471I exm423807 4 126411605 [T/C] NM_024582 FAT4 EXON Missense_P4543L exm423815 4 126411773 [T/C] NM_024582 FAT4 EXON Missense_P4599L exm423833 4 126412154 [A/G] NM_024582 FAT4 EXON Missense_R4726K exm423840 4 126412283 [A/G] NM_024582 FAT4 EXON Missense_R4769H exm423860 4 126412558 [A/G] NM_024582 FAT4 EXON Missense_M4861V exm423863 4 126412634 [G/C] NM_024582 FAT4 EXON Missense_A4886G exm423864 4 126412637 [A/G] NM_024582 FAT4 EXON Missense_R4887K exm423879 4 126412891 [T/C] NM_024582 FAT4 EXON Missense_P4972S exm2240420 4 126412906 [A/G] NM_024582 FAT4 EXON Missense_A4977T exm-rs12639834 4 126426695 [T/C] exm-rs950063 4 126431919 [T/C] exm2269837 4 126654773 [T/G] exm-rs2390896 4 126798536 [A/G] exm2256333 4 127304595 [A/G] exm2261603 4 127412444 [T/C] exm2265757 4 127889513 [A/G] exm2269838 4 128079327 [T/C] exm423889 4 128554281 [A/T] NM_015693 INTU EXON Missense_F31Y exm423890 4 128554293 [T/C] NM_015693 INTU EXON Missense_V35A exm423892 4 128564885 [C/G] NM_015693 INTU EXON Missense_R119T exm423893 4 128564909 [A/G] NM_015693 INTU EXON Missense_R127H exm423900 4 128564996 [A/T] NM_015693 INTU EXON Missense_Q156L exm423905 4 128565136 [A/G] NM_015693 INTU EXON Missense_G203S exm423910 4 128565197 [A/G] NM_015693 INTU EXON Missense_G223D exm423912 4 128577820 [A/G] NM_015693 INTU EXON Missense_D238N exm2274047 4 128608896 [A/C] NM_015693 INTU EXON Missense_R441S exm423930 4 128608907 [A/C] NM_015693 INTU EXON Missense_P445H exm423934 4 128608927 [A/G] NM_015693 INTU EXON Missense_A452T exm423935 4 128608933 [T/C] NM_015693 INTU EXON Missense_P454S exm423947 4 128626829 [A/T] NM_015693 INTU EXON Missense_L550F exm423953 4 128627733 [A/G] NM_015693 INTU EXON Missense_Q627R exm423957 4 128627874 [T/C] NM_015693 INTU EXON Missense_S674L exm423959 4 128627927 [T/G] NM_015693 INTU EXON Missense_C692G exm423962 4 128627967 [A/G] NM_015693 INTU EXON Missense_R705H exm423964 4 128627984 [T/C] NM_015693 INTU EXON Missense_C711R exm423966 4 128628020 [A/G] NM_015693 INTU EXON Missense_G723R exm423969 4 128628045 [A/G] NM_015693 INTU EXON Missense_H731R exm423971 4 128628066 [A/G] NM_015693 INTU EXON Missense_R738Q exm423972 4 128628100 [A/C] NM_015693 INTU EXON Missense_L749F exm423982 4 128632210 [T/C] NM_015693 INTU EXON Missense_C838R exm2269839 4 128647518 [T/C] exm423993 4 128651703 [T/G] NM_031291 SLC25A31 EXON Missense_M1I exm423996 4 128651726 [A/G] NM_031291 SLC25A31 EXON Missense_K9R exm2065617 4 128651914 [T/C] NM_031291 SLC25A31 EXON Missense_R72W exm424015 4 128685491 [T/C] NM_031291 SLC25A31 EXON Nonsense_R152X exm424026 4 128694557 [A/G] NM_031291 SLC25A31 EXON Missense_R259Q exm424028 4 128694623 [T/C] NM_031291 SLC25A31 EXON Missense_F281S exm424033 4 128694706 [T/C] NM_031291 SLC25A31 EXON Missense_H309Y exm424045 4 128715251 [T/C] NM_014278 HSPA4L EXON Missense_S43P exm424046 4 128715260 [T/C] NM_014278 HSPA4L EXON Nonsense_R46X exm424052 4 128717043 [A/G] NM_014278 HSPA4L EXON Missense_N96D exm424054 4 128719746 [A/G] NM_014278 HSPA4L EXON Missense_R104Q exm424057 4 128722347 [A/G] NM_014278 HSPA4L EXON Missense_V162I exm424058 4 128722949 [T/C] NM_014278 HSPA4L EXON Missense_A180V exm424060 4 128723042 [T/C] NM_014278 HSPA4L EXON Missense_L211S exm424064 4 128724955 [A/G] NM_014278 HSPA4L EXON Missense_A279T exm424068 4 128725188 [A/G] NM_014278 HSPA4L EXON Missense_A311T exm424078 4 128729179 [T/C] NM_014278 HSPA4L EXON Missense_P425S exm424084 4 128732695 [A/C] NM_014278 HSPA4L EXON Missense_S494R exm424091 4 128732783 [A/G] NM_014278 HSPA4L EXON Missense_D524N exm424097 4 128741611 [T/C] NM_014278 HSPA4L EXON Missense_L568S exm424099 4 128741665 [A/G] NM_014278 HSPA4L EXON Missense_S586N exm424101 4 128741710 [T/C] NM_014278 HSPA4L EXON Missense_I601T exm2065662 4 128744681 [A/C] NM_014278 HSPA4L EXON Missense_K650Q exm424108 4 128748467 [A/G] NM_014278 HSPA4L EXON Missense_G685D exm2256338 4 128751804 [T/C] NM_014278 HSPA4L EXON Synonymous_Y726Y exm424111 4 128751815 [A/C] NM_014278 HSPA4L EXON Missense_D730A exm424124 4 128802306 [A/G] NM_014264,NM_001190799 PLK4,PLK4 EXON Missense_G6E,Missense_G6E exm424141 4 128807265 [A/G] NM_014264,NM_001190799,NM_001190801 PLK4,PLK4,PLK4 EXON Missense_R247H,Missense_R215H,Missense_R206H exm2240423 4 128807451 [A/G] NM_014264,NM_001190799,NM_001190801 PLK4,PLK4,PLK4 EXON Missense_K309R,Missense_K277R,Missense_K268R exm424145 4 128807475 [T/C] NM_014264,NM_001190799,NM_001190801 PLK4,PLK4,PLK4 EXON Missense_P317L,Missense_P285L,Missense_P276L exm424179 4 128811117 [C/G] NM_014264,NM_001190799,NM_001190801 PLK4,PLK4,PLK4 EXON Missense_W519S,Missense_W487S,Missense_W478S exm424181 4 128811153 [T/C] NM_014264,NM_001190799,NM_001190801 PLK4,PLK4,PLK4 EXON Missense_S531F,Missense_S499F,Missense_S490F exm424185 4 128811336 [T/C] NM_014264,NM_001190799,NM_001190801 PLK4,PLK4,PLK4 EXON Missense_S592F,Missense_S560F,Missense_S551F exm424192 4 128812271 [T/G] NM_014264,NM_001190799,NM_001190801 PLK4,PLK4,PLK4 EXON Missense_V619L,Missense_V587L,Missense_V578L exm424203 4 128813668 [A/T] NM_014264,NM_001190799,NM_001190801 PLK4,PLK4,PLK4 EXON Missense_D729E,Missense_D697E,Missense_D688E exm424211 4 128814675 [A/G] NM_014264,NM_001190799,NM_001190801 PLK4,PLK4,PLK4 EXON Missense_R777H,Missense_R745H,Missense_R736H exm424213 4 128814746 [A/G] NM_014264,NM_001190799,NM_001190801 PLK4,PLK4,PLK4 EXON Missense_I801V,Missense_I769V,Missense_I760V exm424218 4 128814957 [T/C] NM_014264,NM_001190799,NM_001190801 PLK4,PLK4,PLK4 EXON Missense_T828M,Missense_T796M,Missense_T787M exm424219 4 128814964 [T/G] NM_014264,NM_001190799,NM_001190801 PLK4,PLK4,PLK4 EXON Missense_E830D,Missense_E798D,Missense_E789D exm424226 4 128816138 [A/G] NM_014264,NM_001190799,NM_001190801 PLK4,PLK4,PLK4 EXON Missense_T865A,Missense_T833A,Missense_T824A exm2256339 4 128819618 [A/G] NM_014264,NM_001190799,NM_001190801 PLK4,PLK4,PLK4 EXON Synonymous_P945P,Synonymous_P913P,Synonymous_P904P exm424240 4 128841867 [A/G] NM_152778 MFSD8 EXON Missense_I492T exm424255 4 128842761 [A/G] NM_152778 MFSD8 EXON Missense_A423V exm424256 4 128842824 [A/G] NM_152778 MFSD8 EXON Missense_S402L exm424259 4 128842893 [A/G] NM_152778 MFSD8 EXON Missense_F379S exm424264 4 128843107 [T/C] NM_152778 MFSD8 EXON Missense_R337H exm424266 4 128843111 [C/G] NM_152778 MFSD8 EXON Missense_E336Q exm424274 4 128851902 [T/C] NM_152778 MFSD8 EXON Missense_I312V exm424276 4 128851950 [T/C] NM_152778 MFSD8 EXON Missense_D296N exm424289 4 128861050 [A/G] NM_152778 MFSD8 EXON Missense_F219S exm424290 4 128861116 [T/C] NM_152778 MFSD8 EXON Missense_G197D exm424302 4 128865140 [A/G] NM_152778 MFSD8 EXON Missense_P69L exm424311 4 128878744 [T/A] NM_152778 MFSD8 EXON Missense_E22D exm2065738 4 128904204 [T/C] NM_001039717 C4orf29 Silent exm424319 4 128905492 [A/G] NM_001039717 C4orf29 Silent exm424324 4 128910966 [A/G] NM_001039717 C4orf29 EXON Missense_V90I exm424334 4 128938656 [T/C] NM_001039717 C4orf29 EXON Synonymous_H203H exm424335 4 128941236 [T/C] NM_001039717 C4orf29 EXON Missense_M204T exm424339 4 128949651 [T/C] NM_001039717 C4orf29 EXON Nonsense_Q241X exm424341 4 128949799 [T/C] NM_001039717 C4orf29 EXON Missense_A290V exm424342 4 128949843 [T/C] NM_001039717 C4orf29 EXON Missense_R305C exm424343 4 128949850 [A/G] NM_001039717 C4orf29 EXON Missense_N307S exm424345 4 128949929 [A/C] NM_001039717 C4orf29 EXON Missense_S333R exm424348 4 128951724 [T/C] NM_001039717 C4orf29 EXON Nonsense_R380X exm424351 4 128951772 [T/C] NM_001039717 C4orf29 EXON Nonsense_R396X exm424357 4 128998952 [A/G] NM_178043,NM_032239,NM_018078 LARP1B,LARP1B,LARP1B EXON Missense_V18I,Missense_V18I,Missense_V18I exm424370 4 129012267 [A/G] NM_178043,NM_032239,NM_018078 LARP1B,LARP1B,LARP1B EXON Missense_R157Q,Missense_R157Q,Missense_R157Q exm424376 4 129012661 [A/G] NM_178043,NM_032239,NM_018078 LARP1B,LARP1B,LARP1B EXON Missense_R221H,Missense_R221H,Missense_R221H exm424382 4 129028382 [T/C] NM_178043,NM_032239,NM_018078 LARP1B,LARP1B,LARP1B EXON Missense_P301L,Missense_P301L,Missense_P301L exm424384 4 129028519 [A/C] NM_178043,NM_032239,NM_018078 LARP1B,LARP1B,LARP1B EXON Silent,Missense_Q347K,Silent exm424385 4 129035733 [G/C] NM_178043,NM_018078 LARP1B,LARP1B EXON Missense_P333A,Missense_P333A exm424392 4 129043020 [T/C] NM_178043,NM_018078 LARP1B,LARP1B EXON Missense_C401R,Missense_C401R exm424394 4 129043204 [G/C] NM_178043,NM_018078 LARP1B,LARP1B EXON Missense_P462R,Missense_P462R exm424395 4 129043230 [A/G] NM_178043,NM_018078 LARP1B,LARP1B EXON Missense_M471V,Missense_M471V exm424398 4 129043273 [A/G] NM_178043,NM_018078 LARP1B,LARP1B EXON Missense_N485S,Missense_N485S exm424403 4 129043329 [T/C] NM_178043,NM_018078 LARP1B,LARP1B EXON Missense_H504Y,Missense_H504Y exm424404 4 129043332 [A/G] NM_178043,NM_018078 LARP1B,LARP1B EXON Missense_T505A,Missense_T505A exm2269840 4 129052429 [T/C] NM_018078 LARP1B Silent exm424421 4 129099709 [A/G] NM_018078 LARP1B EXON Missense_K603R exm424428 4 129100595 [A/G] NM_018078 LARP1B EXON Missense_N644S exm424430 4 129100643 [A/G] NM_018078 LARP1B EXON Missense_R660H exm424432 4 129100658 [T/C] NM_018078 LARP1B EXON Missense_S665F exm424436 4 129120649 [A/G] NM_018078 LARP1B EXON Missense_T687A exm424439 4 129120737 [A/G] NM_018078 LARP1B EXON Missense_R716H exm424440 4 129121697 [T/G] NM_018078 LARP1B EXON Missense_G729V exm424447 4 129121807 [A/G] NM_018078 LARP1B EXON Missense_K766E exm424448 4 129121810 [A/G] NM_018078 LARP1B EXON Missense_E767K exm424450 4 129127647 [A/G] NM_018078 LARP1B EXON Missense_I792V exm424458 4 129131153 [T/C] NM_018078 LARP1B EXON Missense_P897L exm424459 4 129131162 [T/C] NM_018078 LARP1B EXON Missense_S900F exm424460 4 129131164 [T/C] NM_018078 LARP1B EXON Missense_P901S exm424472 4 129208629 [T/C] NM_006320 PGRMC2 EXON Missense_E130G exm424475 4 129208660 [A/G] NM_006320 PGRMC2 EXON Missense_P120S exm2265869 4 129543559 [A/G] exm2256342 4 129694554 [T/C] exm424508 4 129770150 [T/G] NM_024900,NM_199320 PHF17,PHF17 EXON Missense_E104D,Missense_E104D exm424532 4 129783034 [A/G] NM_024900,NM_199320 PHF17,PHF17 EXON Missense_N386S,Missense_N386S exm424536 4 129783085 [T/G] NM_024900,NM_199320 PHF17,PHF17 EXON Missense_L403R,Missense_L403R exm2065838 4 129789121 [A/T] NM_199320 PHF17 EXON Missense_R538S exm2240427 4 129792588 [T/C] NM_199320 PHF17 EXON Missense_P567L exm424554 4 129792810 [A/G] NM_199320 PHF17 EXON Missense_R641H exm424556 4 129792873 [A/G] NM_199320 PHF17 EXON Missense_N662S exm424568 4 129793194 [T/C] NM_199320 PHF17 EXON Missense_A769V exm424571 4 129793242 [T/C] NM_199320 PHF17 EXON Missense_P785L exm424572 4 129793277 [A/G] NM_199320 PHF17 EXON Missense_D797N exm424582 4 129805634 [A/G] NM_144643 SCLT1 EXON Missense_X689Q exm424590 4 129812279 [G/C] NM_144643 SCLT1 EXON Missense_R615G exm424602 4 129857969 [T/C] NM_144643 SCLT1 EXON Missense_R557H exm424609 4 129864275 [T/C] NM_144643 SCLT1 EXON Missense_R503K exm424615 4 129867228 [T/C] NM_144643 SCLT1 EXON Missense_R458H exm424616 4 129867280 [A/T] NM_144643 SCLT1 EXON Missense_S441C exm424617 4 129867300 [T/C] NM_144643 SCLT1 EXON Missense_R434H exm424619 4 129867307 [A/T] NM_144643 SCLT1 EXON Missense_I432F exm424621 4 129869706 [T/C] NM_144643 SCLT1 EXON Missense_G413D exm424622 4 129869725 [T/C] NM_144643 SCLT1 EXON Missense_E407K exm424623 4 129873962 [T/C] NM_144643 SCLT1 EXON Missense_I394V exm424631 4 129878265 [C/G] NM_144643 SCLT1 EXON Missense_E354D exm424640 4 129891542 [A/C] NM_144643 SCLT1 EXON Missense_M256I exm424645 4 129891583 [T/C] NM_144643 SCLT1 EXON Missense_E243K exm424646 4 129913335 [A/G] NM_144643 SCLT1 EXON Nonsense_R225X exm424648 4 129913352 [A/G] NM_144643 SCLT1 EXON Missense_V219A exm2240431 4 129913370 [A/G] NM_144643 SCLT1 EXON Missense_T213I exm424650 4 129920837 [T/C] NM_144643 SCLT1 EXON Missense_Q180R exm424652 4 129920929 [T/A] NM_144643 SCLT1 EXON Missense_E149D exm424667 4 129925010 [T/A] NM_144643 SCLT1 EXON Missense_D104E exm424680 4 130003526 [A/G] NM_144643 SCLT1 EXON Nonsense_R13X exm424687 4 130023884 [T/G] NM_173487,NM_001099783 C4orf33,C4orf33 EXON Missense_R40M,Missense_R40M exm424692 4 130027763 [A/G] NM_173487,NM_001099783 C4orf33,C4orf33 EXON Missense_N68S,Missense_N68S exm424702 4 130030644 [T/C] NM_173487,NM_001099783 C4orf33,C4orf33 EXON Missense_S104L,Missense_S104L exm424703 4 130030652 [A/G] NM_173487,NM_001099783 C4orf33,C4orf33 EXON Missense_M107V,Missense_M107V exm424704 4 130030718 [A/G] NM_173487,NM_001099783 C4orf33,C4orf33 EXON Missense_V129M,Missense_V129M exm424710 4 130032843 [A/G] NM_173487,NM_001099783 C4orf33,C4orf33 EXON Missense_H166R,Missense_H166R exm424711 4 130032847 [A/C] NM_173487,NM_001099783 C4orf33,C4orf33 EXON Nonsense_C167X,Nonsense_C167X exm424712 4 130032857 [T/G] NM_173487,NM_001099783 C4orf33,C4orf33 EXON Missense_F171V,Missense_F171V exm424717 4 130032945 [A/G] NM_173487,NM_001099783 C4orf33,C4orf33 EXON Missense_X200W,Missense_X200W exm2269842 4 130092214 [T/C] exm2265758 4 130691794 [A/G] exm2261607 4 130751286 [A/G] exm-rs1024020 4 131137761 [T/C] exm2269969 4 131167056 [T/C] exm2269843 4 131254621 [T/C] exm2269844 4 131711532 [T/C] exm-rs1478091 4 131790501 [T/C] exm2269970 4 132262931 [T/C] exm2256349 4 132452741 [T/G] exm2269846 4 133038675 [T/C] exm2264101 4 133504375 [A/C] exm2269847 4 133529403 [T/C] exm2269848 4 134063018 [T/G] exm2065963 4 134071300 [T/C] NM_020815,NM_032961 PCDH10,PCDH10 EXON Missense_I2T,Missense_I2T exm2065965 4 134071430 [T/G] NM_020815,NM_032961 PCDH10,PCDH10 EXON Missense_I45M,Missense_I45M exm2256353 4 134071871 [A/G] NM_020815,NM_032961 PCDH10,PCDH10 EXON Synonymous_E192E,Synonymous_E192E exm424772 4 134072578 [T/C] NM_020815,NM_032961 PCDH10,PCDH10 EXON Missense_S428F,Missense_S428F exm2256354 4 134072642 [T/C] NM_020815,NM_032961 PCDH10,PCDH10 EXON Synonymous_I449I,Synonymous_I449I exm424782 4 134072764 [T/G] NM_020815,NM_032961 PCDH10,PCDH10 EXON Missense_R490L,Missense_R490L exm424786 4 134072893 [A/G] NM_020815,NM_032961 PCDH10,PCDH10 EXON Missense_Y533C,Missense_Y533C exm424794 4 134073301 [T/C] NM_020815,NM_032961 PCDH10,PCDH10 EXON Missense_S669F,Missense_S669F exm424802 4 134073527 [T/G] NM_020815,NM_032961 PCDH10,PCDH10 EXON Missense_K744N,Missense_K744N exm424807 4 134073706 [T/C] NM_020815,NM_032961 PCDH10,PCDH10 EXON Missense_I804T,Missense_I804T exm424809 4 134073746 [T/G] NM_020815,NM_032961 PCDH10,PCDH10 EXON Missense_Q817H,Missense_Q817H exm424826 4 134084225 [T/G] NM_032961 PCDH10 EXON Missense_R964L exm2269971 4 134169341 [T/C] exm2265759 4 134384370 [A/G] exm2265871 4 134795710 [A/G] exm2265760 4 134860496 [A/G] exm424843 4 135121183 [T/C] NM_001114734 PABPC4L EXON Missense_S389N exm2240442 4 135121425 [G/C] NM_001114734 PABPC4L EXON Missense_M308I exm424850 4 135121601 [T/C] NM_001114734 PABPC4L EXON Missense_V250I exm424851 4 135121721 [T/C] NM_001114734 PABPC4L EXON Missense_R210G exm424852 4 135121729 [A/G] NM_001114734 PABPC4L EXON Missense_A207V exm2274048 4 135122036 [T/G] NM_001114734 PABPC4L EXON Missense_T105P exm-rs10026364 4 135522740 [T/C] exm2265762 4 135741792 [A/G] exm2269972 4 135864154 [T/C] exm2264066 4 136244789 [A/C] exm2269849 4 136694463 [T/C] exm2269973 4 136762639 [T/G] exm2265872 4 137196244 [A/G] exm2269850 4 137408872 [T/C] exm2269851 4 137539440 [T/C] exm-rs6813479 4 137660383 [T/A] exm2264067 4 138232010 [A/C] exm2261617 4 138433162 [A/G] exm424867 4 138442265 [T/C] NM_019035 PCDH18 EXON Missense_N1109S exm424869 4 138442359 [A/T] NM_019035 PCDH18 EXON Missense_S1078C exm424871 4 138442377 [A/G] NM_019035 PCDH18 EXON Missense_P1072S exm424880 4 138442527 [T/C] NM_019035 PCDH18 EXON Missense_T1022A exm424882 4 138442550 [T/C] NM_019035 PCDH18 EXON Missense_R1014H exm424886 4 138442615 [T/G] NM_019035 PCDH18 EXON Missense_N992K exm424911 4 138450892 [A/G] NM_019035 PCDH18 EXON Missense_T784I exm424926 4 138451090 [A/G] NM_019035 PCDH18 EXON Missense_V718A exm424933 4 138451218 [C/G] NM_019035 PCDH18 EXON Missense_M675I exm424934 4 138451222 [T/C] NM_019035 PCDH18 EXON Missense_C674Y exm424938 4 138451292 [T/C] NM_019035 PCDH18 EXON Missense_E651K exm424941 4 138451397 [A/G] NM_019035 PCDH18 EXON Missense_L616F exm424944 4 138451498 [T/C] NM_019035 PCDH18 EXON Missense_R582H exm424945 4 138451499 [A/G] NM_019035 PCDH18 EXON Missense_R582C exm2066168 4 138451723 [T/C] NM_019035 PCDH18 EXON Missense_S507N exm424983 4 138452808 [A/C] NM_019035 PCDH18 EXON Missense_E145D exm424984 4 138452842 [A/G] NM_019035 PCDH18 EXON Missense_S134F exm424995 4 138453216 [T/G] NM_019035 PCDH18 EXON Missense_H9Q exm2264068 4 138609462 [A/C] exm-rs2313132 4 138692250 [A/G] exm425000 4 139093119 [A/T] NR_038380,NM_014331 SLC7A11-AS1,SLC7A11 EXON Silent,Missense_D499E exm425001 4 139093139 [T/C] NR_038380,NM_014331 SLC7A11-AS1,SLC7A11 EXON Silent,Missense_E493K exm425002 4 139100372 [T/C] NM_014331 SLC7A11 Silent exm425007 4 139100509 [A/G] NM_014331 SLC7A11 EXON Missense_L436F exm425011 4 139101829 [T/C] NM_014331 SLC7A11 EXON Missense_R411Q exm425015 4 139101928 [A/G] NM_014331 SLC7A11 EXON Missense_I378T exm425022 4 139104414 [T/C] NM_014331 SLC7A11 EXON Missense_I321V exm425024 4 139104429 [A/G] NM_014331 SLC7A11 EXON Missense_S316P exm425028 4 139106315 [A/G] NM_014331 SLC7A11 EXON Missense_I292T exm425046 4 139144395 [T/C] NM_014331 SLC7A11 EXON Missense_I202V exm425052 4 139153499 [A/G] NM_014331 SLC7A11 EXON Missense_R148C exm425054 4 139153535 [A/G] NM_014331 SLC7A11 EXON Missense_P136S exm425064 4 139163117 [T/C] NM_014331 SLC7A11 EXON Missense_E36G exm425065 4 139163150 [A/G] NM_014331 SLC7A11 EXON Missense_P25L exm2269852 4 139274999 [T/C] NR_051987 LINC00499 Silent exm2269853 4 139385949 [T/G] exm2269974 4 139443162 [T/C] exm425077 4 139964386 [A/G] NM_012118 CCRN4L EXON Missense_V117I exm425083 4 139964437 [A/G] NM_012118 CCRN4L EXON Missense_T134A exm425085 4 139964455 [T/C] NM_012118 CCRN4L EXON Missense_H140Y exm425086 4 139964458 [G/C] NM_012118 CCRN4L EXON Missense_P141A exm425090 4 139965859 [A/G] NM_012118 CCRN4L EXON Missense_K176R exm425105 4 139966253 [A/C] NM_012118 CCRN4L EXON Missense_N307K exm425117 4 139966509 [A/G] NM_012118 CCRN4L EXON Missense_D393N exm425144 4 139980741 [T/C] NM_001276457,NM_006874,NM_001276458,NM_001276459,NM_201999 ELF2,ELF2,ELF2,ELF2,ELF2 EXON Missense_Q304R,Missense_Q333R,Missense_Q321R,Missense_Q292R,Missense_Q381R exm425147 4 139981622 [T/C] NM_001276457,NM_006874,NM_001276458,NM_001276459,NM_201999 ELF2,ELF2,ELF2,ELF2,ELF2 EXON Missense_R249H,Missense_R278H,Missense_R266H,Missense_R237H,Missense_R326H exm425148 4 139981623 [A/G] NM_001276457,NM_006874,NM_001276458,NM_001276459,NM_201999 ELF2,ELF2,ELF2,ELF2,ELF2 EXON Missense_R249C,Missense_R278C,Missense_R266C,Missense_R237C,Missense_R326C exm425165 4 139993175 [A/G] NM_001276457,NM_006874,NM_001276458,NM_001276459,NM_201999 ELF2,ELF2,ELF2,ELF2,ELF2 EXON Missense_P64L,Missense_P64L,Silent,Silent,Silent exm2066287 4 140046390 [A/C] NM_201999 ELF2 EXON Missense_Y56D exm425174 4 140058792 [T/G] NM_201999 ELF2 EXON Missense_N22H exm425175 4 140058849 [T/A] NM_201999 ELF2 EXON Missense_S3T exm2265763 4 140115744 [A/G] exm425184 4 140187879 [T/G] NM_032623 MGARP EXON Missense_N199K exm425186 4 140187947 [A/G] NM_032623 MGARP EXON Missense_P177S exm425192 4 140188049 [A/C] NM_032623 MGARP EXON Missense_V143L exm425193 4 140188060 [A/C] NM_032623 MGARP EXON Missense_C139F exm425195 4 140188079 [T/C] NM_032623 MGARP EXON Missense_I133V exm425196 4 140188094 [T/C] NM_032623 MGARP EXON Missense_A128T exm2066296 4 140196466 [T/C] NM_032623 MGARP EXON Missense_T55A exm425205 4 140196495 [T/G] NM_032623 MGARP EXON Missense_N45T exm425211 4 140196538 [A/G] NM_032623 MGARP EXON Missense_R31C exm425220 4 140213733 [G/C] NM_001184990,NM_001184988,NM_001184991,NM_001184987,NM_002494,NM_001184989,NM_001184986 NDUFC1,NDUFC1,NDUFC1,NDUFC1,NDUFC1,NDUFC1,NDUFC1 EXON Missense_E68Q,Missense_E68Q,Missense_E68Q,Missense_E68Q,Missense_E68Q,Missense_E68Q,Missense_E68Q exm2066301 4 140216277 [T/C] NM_001184990,NM_001184988,NM_001184991,NM_001184987,NM_002494,NM_001184989,NM_001184986 NDUFC1,NDUFC1,NDUFC1,NDUFC1,NDUFC1,NDUFC1,NDUFC1 EXON Missense_V31M,Missense_V31M,Missense_V31M,Missense_V31M,Missense_V31M,Missense_V31M,Missense_V31M exm425246 4 140265415 [T/C] NM_057175 NAA15 EXON Missense_L205F exm425254 4 140270734 [A/G] NM_057175 NAA15 EXON Synonymous_P270P exm425258 4 140272383 [T/G] NM_057175 NAA15 EXON Missense_W284G exm2256372 4 140291396 [A/T] NM_057175 NAA15 EXON Synonymous_L595L exm425288 4 140300002 [A/C] NM_057175 NAA15 EXON Missense_N717H exm425308 4 140375580 [T/G] NM_031296 RAB33B EXON Missense_I77M exm425331 4 140394120 [T/C] NM_031296 RAB33B EXON Missense_T177M exm425334 4 140394245 [T/C] NM_031296 RAB33B EXON Missense_P219S exm425335 4 140394267 [T/C] NM_031296 RAB33B EXON Missense_T226M exm-rs17050782 4 140423134 [A/G] exm425348 4 140439162 [A/G] NM_030648 SETD7 EXON Missense_T266I exm425356 4 140444512 [T/C] NM_030648 SETD7 EXON Missense_E214K exm425361 4 140450287 [T/C] NM_030648 SETD7 EXON Missense_A154T exm2264069 4 140455528 [A/C] NM_030648 SETD7 Silent exm425372 4 140468101 [T/C] NM_030648 SETD7 EXON Missense_R48Q exm425373 4 140468118 [A/G] NM_030648 SETD7 EXON Synonymous_H42H exm425395 4 140624612 [T/C] NM_002413,NM_001204366,NM_001204368,NM_001204367 MGST2,MGST2,MGST2,MGST2 EXON Missense_F78S,Missense_F78S,Synonymous_F54F,Missense_F10S exm2066376 4 140624621 [A/G] NM_002413,NM_001204366,NM_001204368,NM_001204367 MGST2,MGST2,MGST2,MGST2 EXON Missense_C81Y,Missense_C81Y,Synonymous_L57L,Missense_C13Y exm425400 4 140624656 [T/C] NM_002413,NM_001204366,NM_001204368,NM_001204367 MGST2,MGST2,MGST2,MGST2 EXON Missense_Y93H,Missense_Y93H,Missense_I69T,Missense_Y25H exm425402 4 140624681 [T/C] NM_002413,NM_001204366,NM_001204368,NM_001204367 MGST2,MGST2,MGST2,MGST2 EXON Missense_A101V,Missense_A101V,Synonymous_C77C,Missense_A33V exm425403 4 140624689 [T/C] NM_002413,NM_001204366,NM_001204368,NM_001204367 MGST2,MGST2,MGST2,MGST2 EXON Missense_R104W,Missense_R104W,Silent,Missense_R36W exm425404 4 140625183 [T/C] NM_002413,NM_001204366,NM_001204368,NM_001204367 MGST2,MGST2,MGST2,MGST2 EXON Nonsense_R109X,Nonsense_R109X,Silent,Nonsense_R41X exm2240472 4 140625267 [T/C] NM_002413,NM_001204366,NM_001204368,NM_001204367 MGST2,MGST2,MGST2,MGST2 EXON Missense_L137F,Missense_L137F,Silent,Missense_L69F exm2269975 4 140631947 [T/G] NM_001204366,NM_001204367 MGST2,MGST2 Silent,Silent exm425409 4 140640527 [A/G] NM_001204366,NM_001204367,NM_018717 MGST2,MGST2,MAML3 EXON Silent,Silent,Missense_P1119S exm425414 4 140640672 [C/G] NM_001204366,NM_001204367,NM_018717 MGST2,MGST2,MAML3 EXON Silent,Silent,Missense_S1070R exm425416 4 140640703 [T/G] NM_001204366,NM_001204367,NM_018717 MGST2,MGST2,MAML3 EXON Silent,Silent,Missense_P1060H exm425417 4 140640704 [A/G] NM_001204366,NM_001204367,NM_018717 MGST2,MGST2,MAML3 EXON Silent,Silent,Missense_P1060S exm425418 4 140640715 [A/G] NM_001204366,NM_001204367,NM_018717 MGST2,MGST2,MAML3 EXON Silent,Silent,Missense_A1056V exm425420 4 140640758 [T/C] NM_001204366,NM_001204367,NM_018717 MGST2,MGST2,MAML3 EXON Silent,Silent,Missense_M1042V exm425423 4 140640804 [T/C] NM_001204366,NM_001204367,NM_018717 MGST2,MGST2,MAML3 EXON Silent,Silent,Missense_M1026I exm425432 4 140641207 [T/C] NM_001204366,NM_001204367,NM_018717 MGST2,MGST2,MAML3 EXON Silent,Silent,Missense_Q892R exm425433 4 140641226 [T/G] NM_001204366,NM_001204367,NM_018717 MGST2,MGST2,MAML3 EXON Silent,Silent,Missense_M886L exm425444 4 140641397 [T/C] NM_001204366,NM_001204367,NM_018717 MGST2,MGST2,MAML3 EXON Silent,Silent,Missense_A829T exm425448 4 140641454 [T/C] NM_001204366,NM_001204367,NM_018717 MGST2,MGST2,MAML3 EXON Silent,Silent,Missense_V810I exm425449 4 140641462 [A/G] NM_001204366,NM_001204367,NM_018717 MGST2,MGST2,MAML3 EXON Silent,Silent,Missense_I807T exm425464 4 140651649 [A/G] NM_001204366,NM_001204367,NM_018717 MGST2,MGST2,MAML3 EXON Silent,Silent,Missense_I747T exm425468 4 140651719 [T/C] NM_001204366,NM_001204367,NM_018717 MGST2,MGST2,MAML3 EXON Silent,Silent,Missense_G724S exm425480 4 140810546 [G/C] NM_018717 MAML3 EXON Missense_P678A exm425490 4 140810719 [T/C] NM_018717 MAML3 EXON Missense_N620S exm425520 4 140811292 [T/C] NM_018717 MAML3 EXON Missense_R433Q exm425522 4 140811375 [T/G] NM_018717 MAML3 EXON Missense_N405K exm425527 4 140811451 [A/G] NM_018717 MAML3 EXON Missense_S380F exm425529 4 140811463 [A/G] NM_018717 MAML3 EXON Missense_A376V exm425536 4 140811578 [T/C] NM_018717 MAML3 EXON Missense_E338K exm425540 4 140811709 [T/C] NM_018717 MAML3 EXON Missense_N294S exm425549 4 140811934 [T/G] NM_018717 MAML3 EXON Missense_H219P exm425553 4 140811997 [A/G] NM_018717 MAML3 EXON Missense_A198V exm2269854 4 140888081 [T/C] NM_018717 MAML3 Silent exm2265874 4 141214222 [A/G] NM_032547,NR_033939 SCOC,LOC100129858 Silent,Silent exm425573 4 141294814 [C/G] NM_032547,NM_001153446,NM_001153635,NM_001153585,NM_001153690,NM_001153663,NM_001153552,NM_001153484 SCOC,SCOC,SCOC,SCOC,SCOC,SCOC,SCOC,SCOC EXON Silent,Silent,Silent,Silent,Silent,Missense_V42L,Missense_V42L,Missense_V42L exm425580 4 141300319 [C/G] NM_032547,NM_001153446,NM_001153635,NM_001153585,NM_001153690,NM_001153663,NM_001153552,NM_001153484 SCOC,SCOC,SCOC,SCOC,SCOC,SCOC,SCOC,SCOC EXON Missense_P39A,Missense_P39A,Missense_P39A,Missense_P39A,Missense_P39A,Missense_P76A,Missense_P76A,Missense_P76A exm425586 4 141310389 [A/G] NM_001130675,NM_004362 CLGN,CLGN EXON Nonsense_R608X,Nonsense_R608X exm425590 4 141311874 [T/C] NM_001130675,NM_004362 CLGN,CLGN EXON Missense_S554G,Missense_S554G exm425592 4 141313429 [T/G] NM_001130675,NM_004362 CLGN,CLGN EXON Missense_K532T,Missense_K532T exm425606 4 141315036 [A/C] NM_001130675,NM_004362 CLGN,CLGN EXON Missense_D437Y,Missense_D437Y exm425609 4 141315096 [A/G] NM_001130675,NM_004362 CLGN,CLGN EXON Missense_S417P,Missense_S417P exm425611 4 141315152 [T/G] NM_001130675,NM_004362 CLGN,CLGN EXON Missense_E398A,Missense_E398A exm425613 4 141315174 [T/C] NM_001130675,NM_004362 CLGN,CLGN EXON Missense_I391V,Missense_I391V exm425614 4 141315185 [T/C] NM_001130675,NM_004362 CLGN,CLGN EXON Missense_S387N,Missense_S387N exm425621 4 141317068 [A/G] NM_001130675,NM_004362 CLGN,CLGN EXON Missense_R352W,Missense_R352W exm425623 4 141317112 [A/G] NM_001130675,NM_004362 CLGN,CLGN EXON Missense_T337M,Missense_T337M exm425625 4 141317334 [A/C] NM_001130675,NM_004362 CLGN,CLGN EXON Nonsense_E304X,Nonsense_E304X exm425626 4 141320021 [T/C] NM_001130675,NM_004362 CLGN,CLGN EXON Missense_V290I,Missense_V290I exm425627 4 141320081 [A/G] NM_001130675,NM_004362 CLGN,CLGN EXON Missense_P270S,Missense_P270S exm425629 4 141320141 [T/C] NM_001130675,NM_004362 CLGN,CLGN EXON Missense_K250E,Missense_K250E exm425634 4 141321510 [A/C] NM_001130675,NM_004362 CLGN,CLGN Silent,Silent exm425635 4 141321589 [T/C] NM_001130675,NM_004362 CLGN,CLGN EXON Missense_E206K,Missense_E206K exm425641 4 141323155 [A/G] NM_001130675,NM_004362 CLGN,CLGN EXON Missense_T162I,Missense_T162I exm425642 4 141323162 [A/C] NM_001130675,NM_004362 CLGN,CLGN EXON Missense_A160S,Missense_A160S exm425643 4 141323200 [A/T] NM_001130675,NM_004362 CLGN,CLGN EXON Missense_D147V,Missense_D147V exm425647 4 141327138 [A/C] NM_001130675,NM_004362 CLGN,CLGN EXON Nonsense_L126X,Nonsense_L126X exm425662 4 141334150 [A/G] NM_001130675,NM_004362 CLGN,CLGN EXON Missense_T28M,Missense_T28M exm-rs1594468 4 141387438 [T/C] exm425667 4 141446611 [A/G] NM_153702 ELMOD2 EXON Missense_Y10C exm425694 4 141461350 [A/C] NM_153702 ELMOD2 EXON Missense_K143T exm425697 4 141463760 [A/G] NM_153702 ELMOD2 EXON Missense_H189R exm425702 4 141464666 [A/G] NM_153702 ELMOD2 EXON Missense_S221N exm425705 4 141464721 [A/T] NM_153702 ELMOD2 EXON Missense_E239D exm425715 4 141481151 [A/G] NM_021833 UCP1 EXON Missense_F275L exm2066446 4 141481163 [A/G] NM_021833 UCP1 EXON Synonymous_L271L exm425722 4 141483481 [A/G] NM_021833 UCP1 EXON Synonymous_C225C exm425731 4 141484281 [A/T] NM_021833 UCP1 EXON Missense_K204I exm425735 4 141484496 [T/C] NM_021833 UCP1 EXON Missense_E168K exm425739 4 141484540 [T/C] NM_021833 UCP1 EXON Missense_R153H exm425740 4 141484541 [A/G] NM_021833 UCP1 EXON Missense_R153C exm425743 4 141484633 [A/G] NM_021833 UCP1 EXON Missense_T122M exm425753 4 141489068 [T/C] NM_021833 UCP1 EXON Missense_A64T exm425754 4 141489089 [T/C] NM_021833 UCP1 EXON Missense_G57S exm425757 4 141489127 [T/C] NM_021833 UCP1 EXON Missense_Q44R exm425758 4 141489131 [A/C] NM_021833 UCP1 EXON Missense_V43F exm425759 4 141489766 [A/G] NM_021833 UCP1 EXON Missense_R40W exm425780 4 141543915 [T/C] NM_015130 TBC1D9 EXON Missense_G1079R exm2066467 4 141544016 [T/C] NM_015130 TBC1D9 EXON Missense_N1045S exm425784 4 141545346 [T/C] NM_015130 TBC1D9 EXON Missense_R1001H exm425787 4 141549463 [T/C] NM_015130 TBC1D9 EXON Missense_V935I exm425789 4 141555128 [T/G] NM_015130 TBC1D9 EXON Missense_N907T exm425792 4 141555183 [T/C] NM_015130 TBC1D9 EXON Missense_V889I exm425801 4 141560492 [A/G] NM_015130 TBC1D9 EXON Missense_R810C exm2240479 4 141560567 [A/G] NM_015130 TBC1D9 EXON Missense_R785W exm425809 4 141578253 [T/C] NM_015130 TBC1D9 EXON Missense_E779K exm425811 4 141578292 [A/G] NM_015130 TBC1D9 EXON Missense_P766S exm425816 4 141578904 [T/C] NM_015130 TBC1D9 EXON Missense_D662N exm425857 4 141600356 [T/C] NM_015130 TBC1D9 EXON Synonymous_A197A exm2256377 4 141622665 [A/G] NM_015130 TBC1D9 EXON Synonymous_I78I exm425867 4 141677088 [T/C] NM_015130 TBC1D9 EXON Missense_G38S exm425877 4 141832316 [T/C] NM_020724 RNF150 EXON Missense_V394I exm425878 4 141832349 [C/G] NM_020724 RNF150 EXON Missense_Q383E exm425884 4 141832499 [T/C] NM_020724 RNF150 EXON Missense_D333N exm425886 4 141832504 [T/C] NM_020724 RNF150 EXON Missense_N331S exm2256378 4 141877063 [A/G] NM_020724 RNF150 Silent exm425907 4 142053488 [A/G] NM_020724 RNF150 EXON Missense_P159S exm425912 4 142053625 [T/C] NM_020724 RNF150 EXON Missense_R113H exm425916 4 142053711 [G/C] NM_020724 RNF150 EXON Missense_Q84H exm425927 4 142053955 [A/C] NM_020724 RNF150 EXON Missense_M3R exm2269976 4 142067235 [T/C] exm-rs1550057 4 142117424 [A/G] exm-rs17007017 4 142142729 [A/G] NM_014487 ZNF330 Silent exm425933 4 142143607 [A/G] NM_014487 ZNF330 EXON Missense_T28A exm425936 4 142145641 [A/G] NM_014487 ZNF330 EXON Missense_E41K exm425947 4 142150779 [A/G] NM_014487 ZNF330 EXON Missense_S116G exm425957 4 142152605 [A/G] NM_014487 ZNF330 EXON Missense_N179S exm425967 4 142153790 [A/G] NM_014487 ZNF330 EXON Missense_M228V exm425970 4 142155072 [A/T] NM_014487 ZNF330 EXON Missense_L298M exm2269855 4 142354508 [T/C] exm425986 4 142649121 [T/C] NM_172175,NR_037840,NM_000585 IL15,IL15,IL15 EXON Missense_T48M,Silent,Missense_T75M exm425988 4 142649127 [A/G] NM_172175,NR_037840,NM_000585 IL15,IL15,IL15 EXON Missense_S50N,Silent,Missense_S77N exm2256380 4 142650413 [T/C] NM_172175,NR_037840,NM_000585 IL15,IL15,IL15 Silent,Silent,Silent exm425993 4 142651066 [A/G] NM_172175,NR_037840,NM_000585 IL15,IL15,IL15 EXON Missense_G76R,Silent,Missense_G103R exm2273397 4 142654084 [A/C] NM_172175,NR_037840,NM_000585 IL15,IL15,IL15 EXON Silent,Silent,Silent exm-rs17007695 4 142709723 [T/C] exm426026 4 143007392 [T/C] NM_001101669,NM_003866 INPP4B,INPP4B EXON Missense_E798K,Missense_E798K exm426051 4 143043366 [T/C] NM_001101669,NM_003866 INPP4B,INPP4B EXON Missense_V684I,Missense_V684I exm426055 4 143043397 [A/G] NM_001101669,NM_003866 INPP4B,INPP4B EXON Synonymous_S673S,Synonymous_S673S exm426058 4 143044445 [T/C] NM_001101669,NM_003866 INPP4B,INPP4B EXON Missense_S673G,Missense_S673G exm426066 4 143045786 [C/G] NM_001101669,NM_003866 INPP4B,INPP4B EXON Missense_Q616H,Missense_Q616H exm426067 4 143045853 [A/G] NM_001101669,NM_003866 INPP4B,INPP4B EXON Missense_V594A,Missense_V594A exm426072 4 143067053 [T/C] NM_001101669,NM_003866 INPP4B,INPP4B EXON Missense_G554S,Missense_G554S exm426073 4 143067054 [A/G] NM_001101669,NM_003866 INPP4B,INPP4B EXON Synonymous_G553G,Synonymous_G553G exm426076 4 143067148 [T/C] NM_001101669,NM_003866 INPP4B,INPP4B EXON Missense_D522G,Missense_D522G exm426093 4 143130076 [T/C] NM_001101669,NM_003866 INPP4B,INPP4B EXON Missense_I314V,Missense_I314V exm2066611 4 143191881 [T/C] NM_001101669,NM_003866 INPP4B,INPP4B EXON Missense_V184M,Missense_V184M exm426110 4 143235865 [C/G] NM_001101669,NM_003866 INPP4B,INPP4B EXON Synonymous_G141G,Synonymous_G141G exm2269857 4 143283973 [T/C] NM_001101669,NM_003866 INPP4B,INPP4B Silent,Silent exm426121 4 143350369 [A/G] NM_001101669,NM_003866 INPP4B,INPP4B EXON Synonymous_S31S,Synonymous_S31S exm-rs1391099 4 143373910 [A/G] NM_001101669,NM_003866 INPP4B,INPP4B Silent,Silent exm2265876 4 143488095 [A/G] NM_001101669,NM_003866 INPP4B,INPP4B Silent,Silent exm2265767 4 144060464 [A/G] exm426136 4 144106782 [T/G] NM_032557 USP38 EXON Missense_V60G exm2066639 4 144116976 [T/G] NM_032557 USP38 EXON Missense_V309G exm426165 4 144127342 [A/G] NM_032557 USP38 EXON Missense_M456V exm426182 4 144134924 [T/C] NM_032557 USP38 EXON Missense_R599C exm426183 4 144134925 [A/G] NM_032557 USP38 EXON Missense_R599H exm426187 4 144135006 [T/C] NM_032557 USP38 EXON Missense_L626S exm426193 4 144135155 [A/G] NM_032557 USP38 EXON Missense_K676E exm2274049 4 144135519 [T/C] NM_032557 USP38 EXON Missense_I797T exm426221 4 144135981 [A/G] NM_032557 USP38 EXON Missense_S951N exm426224 4 144136025 [A/G] NM_032557 USP38 EXON Missense_I966V exm426241 4 144354745 [A/G] NM_207123,NM_002039 GAB1,GAB1 EXON Missense_T157A,Missense_T157A exm426255 4 144359490 [T/C] NM_207123,NM_002039 GAB1,GAB1 EXON Missense_P311L,Missense_P311L exm426262 4 144359648 [T/C] NM_207123,NM_002039 GAB1,GAB1 EXON Missense_R364C,Missense_R364C exm426265 4 144359664 [T/C] NM_207123,NM_002039 GAB1,GAB1 EXON Missense_T369I,Missense_T369I exm2240484 4 144359688 [T/C] NM_207123,NM_002039 GAB1,GAB1 EXON Missense_T377I,Missense_T377I exm2273398 4 144390602 [T/C] NM_207123,NM_002039 GAB1,GAB1 EXON Silent,Silent exm426306 4 144435238 [T/C] NM_003601 SMARCA5 EXON Missense_A54V exm2256384 4 144449134 [A/G] NM_003601 SMARCA5 EXON Synonymous_L305L exm426331 4 144449134 [A/G] NM_003601 SMARCA5 EXON Synonymous_L305L exm426377 4 144468049 [A/G] NM_003601 SMARCA5 EXON Missense_I881V exm426379 4 144468559 [A/G] NM_003601 SMARCA5 EXON Missense_N892S exm426409 4 144498768 [T/C] NM_001168235 FREM3 EXON Missense_D2139G exm426411 4 144498805 [T/C] NM_001168235 FREM3 EXON Missense_I2127V exm426414 4 144498955 [T/C] NM_001168235 FREM3 EXON Missense_V2077M exm426415 4 144507033 [T/C] NM_001168235 FREM3 EXON Missense_V2048M exm426424 4 144532627 [A/G] NM_001168235 FREM3 EXON Missense_R1945C exm426425 4 144532644 [A/G] NM_001168235 FREM3 EXON Missense_F1939S exm426427 4 144542213 [A/G] NM_001168235 FREM3 EXON Missense_I1919T exm2265877 4 144546704 [A/G] NM_001168235 FREM3 Silent exm426444 4 144617316 [T/C] NM_001168235 FREM3 EXON Missense_E1505K exm426445 4 144617347 [C/G] NM_001168235 FREM3 EXON Missense_N1494K exm426447 4 144617397 [A/T] NM_001168235 FREM3 EXON Missense_Y1478N exm2256385 4 144617842 [T/G] NM_001168235 FREM3 EXON Synonymous_I1329I exm426466 4 144618119 [T/C] NM_001168235 FREM3 EXON Missense_R1237Q exm426471 4 144618344 [T/C] NM_001168235 FREM3 EXON Missense_Q1162R exm426474 4 144618496 [T/A] NM_001168235 FREM3 EXON Missense_S1111R exm426476 4 144618610 [G/C] NM_001168235 FREM3 EXON Missense_F1073L exm426477 4 144618683 [T/C] NM_001168235 FREM3 EXON Missense_G1049E exm426486 4 144619088 [T/G] NM_001168235 FREM3 EXON Missense_T914N exm426491 4 144619220 [T/C] NM_001168235 FREM3 EXON Missense_R870Q exm426493 4 144619314 [T/G] NM_001168235 FREM3 EXON Missense_I839L exm426498 4 144619592 [A/G] NM_001168235 FREM3 EXON Missense_T746I exm426499 4 144619637 [A/G] NM_001168235 FREM3 EXON Missense_I731T exm426510 4 144620193 [A/C] NM_001168235 FREM3 EXON Missense_V546F exm426511 4 144620259 [T/C] NM_001168235 FREM3 EXON Missense_G524R exm426514 4 144620342 [A/G] NM_001168235 FREM3 EXON Missense_A496V exm426515 4 144620391 [T/G] NM_001168235 FREM3 EXON Missense_Q480K exm426534 4 144621002 [T/C] NM_001168235 FREM3 EXON Missense_G276D exm426539 4 144621294 [T/C] NM_001168235 FREM3 EXON Missense_E179K exm426544 4 144621585 [A/G] NM_001168235 FREM3 EXON Missense_L82F exm2269858 4 144784844 [T/C] exm2240491 4 144801623 [T/G] NM_198682,NM_002102 GYPE,GYPE EXON Missense_A26E,Missense_A26E exm426582 4 144918704 [A/G] NM_002100 GYPB EXON Nonsense_R87X exm426584 4 144918712 [C/G] NM_002100 GYPB EXON Missense_S84T exm426589 4 144918733 [A/G] NM_002100 GYPB EXON Missense_T77M exm426591 4 144918755 [A/C] NM_002100 GYPB EXON Missense_V70L exm426592 4 144918760 [A/C] NM_002100 GYPB EXON Missense_L68W exm426597 4 144920596 [A/G] NM_002100 GYPB EXON Missense_T48M exm426619 4 145035851 [T/C] NM_002099 GYPA EXON Missense_E143K exm426620 4 145035868 [A/C] NM_002099 GYPA EXON Nonsense_L137X exm426639 4 145040841 [A/G] NM_002099 GYPA EXON Missense_T77I exm2275773 4 145040931 [A/G] NM_002099 GYPA EXON Missense_T47M exm2265768 4 145174382 [A/G] exm-rs12504628 4 145436324 [T/C] exm-rs13147758 4 145460230 [A/G] exm-rs1828591 4 145480780 [A/G] exm-rs1980057 4 145485738 [T/C] exm-rs13118928 4 145486389 [A/G] exm426665 4 145567957 [T/C] NM_022475 HHIP EXON Missense_P44S exm-rs7689420 4 145568352 [T/C] NM_022475 HHIP Silent exm426671 4 145573944 [T/C] NM_022475 HHIP EXON Missense_I156T exm-rs1812175 4 145574844 [A/G] NM_022475 HHIP Silent exm426679 4 145580003 [C/G] NM_022475 HHIP EXON Missense_L178F exm426685 4 145580830 [A/G] NM_022475 HHIP EXON Missense_S224N exm426689 4 145580866 [A/G] NM_022475 HHIP EXON Missense_G236E exm2066778 4 145627777 [A/G] NM_022475 HHIP EXON Missense_R309Q exm2240497 4 145629326 [A/C] NM_022475 HHIP EXON Missense_F388L exm426707 4 145629372 [A/G] NM_022475 HHIP EXON Missense_V404M exm426713 4 145633146 [T/C] NM_022475 HHIP EXON Missense_T449M exm-rs6854783 4 145643079 [A/G] NM_022475 HHIP Silent exm-rs1492820 4 145650021 [A/G] NM_022475 HHIP Silent exm426744 4 145656037 [T/A] NM_022475 HHIP EXON Missense_R635S exm2256389 4 145658429 [T/C] NM_022475 HHIP Silent exm426764 4 145916666 [A/C] NM_014885,NM_001256708,NM_001256710,NM_001256706,NM_001256707,NM_001256709,NM_001256711,NR_046345,NM_001256712 ANAPC10,ANAPC10,ANAPC10,ANAPC10,ANAPC10,ANAPC10,ANAPC10,ANAPC10,ANAPC10 EXON Missense_I139M,Missense_I139M,Silent,Missense_I139M,Missense_I139M,Missense_I150M,Silent,Silent,Silent exm426771 4 146002881 [T/C] NM_014885,NM_001256708,NM_001256710,NM_001256706,NM_001256707,NM_001256709,NM_001256711,NR_046345,NM_001256712 ANAPC10,ANAPC10,ANAPC10,ANAPC10,ANAPC10,ANAPC10,ANAPC10,ANAPC10,ANAPC10 EXON Missense_R46Q,Missense_R46Q,Missense_R46Q,Missense_R46Q,Missense_R46Q,Missense_R57Q,Missense_R46Q,Silent,Missense_R46Q exm426774 4 146017185 [A/G] NM_014885,NM_001256708,NM_001256710,NM_001256706,NM_001256707,NM_001256709,NM_001256711,NR_046345,NM_001256712 ANAPC10,ANAPC10,ANAPC10,ANAPC10,ANAPC10,ANAPC10,ANAPC10,ANAPC10,ANAPC10 EXON Missense_R23W,Missense_R23W,Missense_R23W,Missense_R23W,Missense_R23W,Missense_R34W,Missense_R23W,Silent,Missense_R23W exm426780 4 146030401 [T/C] NM_002940,NM_001040876 ABCE1,ABCE1 EXON Synonymous_D135D,Synonymous_D135D exm426814 4 146044410 [T/C] NM_002940,NM_001040876 ABCE1,ABCE1 EXON Missense_A473V,Missense_A473V exm2256390 4 146058732 [T/C] NM_001102653 OTUD4 EXON Synonymous_Q1000Q exm426875 4 146059787 [T/C] NM_001102653 OTUD4 EXON Missense_M649V exm426881 4 146062572 [T/G] NM_001102653 OTUD4 EXON Missense_P616Q exm426887 4 146062682 [T/C] NM_001102653 OTUD4 EXON Missense_I579M exm426896 4 146063471 [T/C] NM_001102653 OTUD4 EXON Missense_V502M exm426899 4 146064547 [A/C] NM_001102653 OTUD4 EXON Missense_K486N exm426908 4 146065573 [T/C] NM_001102653 OTUD4 EXON Missense_N414S exm426914 4 146071670 [C/G] NM_001102653 OTUD4 EXON Missense_I353M exm2066869 4 146071687 [A/G] NM_001102653 OTUD4 EXON Missense_R348W exm426915 4 146071731 [A/C] NM_001102653 OTUD4 EXON Missense_G333V exm426925 4 146073711 [A/G] NM_001102653 OTUD4 EXON Missense_V252A exm426936 4 146077132 [T/C] NM_001102653 OTUD4 EXON Missense_A151T exm2265878 4 146218651 [A/G] exm426962 4 146460994 [A/C] NM_005900,NM_001003688 SMAD1,SMAD1 EXON Missense_N147H,Missense_N147H exm426975 4 146467921 [A/G] NM_005900,NM_001003688 SMAD1,SMAD1 EXON Missense_N281S,Missense_N281S exm426983 4 146475023 [A/G] NM_005900,NM_001003688 SMAD1,SMAD1 EXON Missense_Y362C,Missense_Y362C exm2269860 4 146524560 [T/G] exm427011 4 146560560 [A/T] NM_172250 MMAA EXON Missense_Y90F exm427016 4 146560724 [T/C] NM_172250 MMAA EXON Nonsense_R145X exm427021 4 146567162 [A/G] NM_172250 MMAA EXON Missense_R196Q exm427038 4 146572241 [T/C] NM_172250 MMAA EXON Missense_A254V exm427049 4 146576332 [T/A] NM_172250 MMAA EXON Missense_I335F exm427053 4 146576418 [G/C] NM_172250 MMAA EXON Missense_Q363H exm427055 4 146576506 [A/G] NM_172250 MMAA EXON Missense_E393K exm427068 4 146601405 [T/C] NM_001080531 C4orf51 EXON Missense_P17L exm2066922 4 146601524 [A/C] NM_001080531 C4orf51 EXON Missense_L57M exm427075 4 146601588 [A/G] NM_001080531 C4orf51 EXON Missense_Q78R exm427078 4 146648084 [A/G] NM_001080531 C4orf51 EXON Missense_R110K exm427083 4 146650355 [T/C] NM_001080531 C4orf51 EXON Missense_P134L exm427090 4 146653620 [A/G] NM_001080531 C4orf51 EXON Missense_D173N exm427091 4 146653623 [T/G] NM_001080531 C4orf51 EXON Missense_S174A exm427107 4 146686863 [A/G] NM_178835 ZNF827 EXON Missense_S963L exm427109 4 146695659 [T/C] NM_178835 ZNF827 EXON Synonymous_T953T exm427113 4 146695703 [T/C] NM_178835 ZNF827 EXON Missense_M939V exm427114 4 146695709 [T/C] NM_178835 ZNF827 EXON Missense_V937I exm427119 4 146696987 [T/C] NM_178835 ZNF827 EXON Missense_V883I exm427127 4 146700537 [A/G] NM_178835 ZNF827 EXON Missense_S837L exm427130 4 146700568 [T/C] NM_178835 ZNF827 EXON Missense_G827S exm427135 4 146744585 [A/C] NM_178835 ZNF827 EXON Missense_I791R exm427138 4 146744601 [T/C] NM_178835 ZNF827 EXON Missense_V786M exm427142 4 146744646 [A/G] NM_178835 ZNF827 EXON Missense_S771P exm427149 4 146770563 [A/G] NM_178835 ZNF827 EXON Missense_M711T exm427154 4 146770704 [T/A] NM_178835 ZNF827 EXON Missense_Y664F exm427157 4 146791444 [T/C] NM_178835 ZNF827 EXON Missense_R645Q exm427163 4 146791487 [C/G] NM_178835 ZNF827 EXON Missense_D631H exm427169 4 146791556 [T/C] NM_178835 ZNF827 EXON Missense_T608A exm427185 4 146807082 [T/C] NM_178835 ZNF827 EXON Missense_G499R exm2066960 4 146813551 [A/G] NM_178835 ZNF827 EXON Synonymous_S370S exm427199 4 146823389 [T/G] NM_178835 ZNF827 EXON Missense_P341Q exm427205 4 146823598 [G/C] NM_178835 ZNF827 EXON Missense_H271Q exm427207 4 146823734 [T/C] NM_178835 ZNF827 EXON Missense_K226R exm427216 4 146823939 [A/G] NM_178835 ZNF827 EXON Missense_P158S exm427225 4 146824064 [T/C] NM_178835 ZNF827 EXON Missense_N116S exm427230 4 146824205 [A/G] NM_178835 ZNF827 EXON Missense_T69I exm427234 4 146824292 [A/G] NM_178835 ZNF827 EXON Missense_P40L exm427239 4 146824359 [T/C] NM_178835 ZNF827 EXON Missense_R18G exm2269977 4 146870765 [T/G] exm427253 4 147179909 [T/C] NM_001029998 SLC10A7 EXON Missense_A310T exm427260 4 147215092 [T/C] NM_001029998 SLC10A7 EXON Missense_I237M exm427262 4 147215100 [A/C] NM_001029998 SLC10A7 EXON Missense_V235F exm427266 4 147215141 [A/G] NM_001029998 SLC10A7 EXON Missense_T221M exm427267 4 147215190 [T/C] NM_001029998 SLC10A7 EXON Missense_I205V exm2265770 4 147246721 [A/G] NM_001029998 SLC10A7 Silent exm427270 4 147247142 [T/C] NM_001029998 SLC10A7 EXON Missense_V148I exm427289 4 147442852 [T/G] NM_001029998,NM_032128 SLC10A7,SLC10A7 EXON Missense_R6S,Missense_R6S exm427297 4 147560411 [T/C] NM_004575 POU4F2 EXON Missense_I40T exm427318 4 147561147 [A/C] NM_004575 POU4F2 EXON Missense_D139E exm427319 4 147561148 [A/G] NM_004575 POU4F2 EXON Missense_A140T exm427374 4 147561856 [A/G] NM_004575 POU4F2 EXON Missense_A376T exm427375 4 147561891 [A/C] NM_004575 POU4F2 EXON Missense_N387K exm427384 4 147628656 [A/G] NM_031956 TTC29 EXON Missense_R460C exm427386 4 147628692 [T/C] NM_031956 TTC29 EXON Missense_G448R exm2067017 4 147724769 [T/C] NM_031956 TTC29 EXON Missense_M390I exm427400 4 147754995 [T/C] NM_031956 TTC29 EXON Missense_G314R exm427401 4 147755012 [A/T] NM_031956 TTC29 EXON Missense_D308V exm427404 4 147788709 [T/C] NM_031956 TTC29 EXON Missense_A276T exm427408 4 147795873 [T/C] NM_031956 TTC29 EXON Missense_K265R exm427410 4 147795903 [T/C] NM_031956 TTC29 EXON Missense_K255R exm427417 4 147796023 [T/C] NM_031956 TTC29 EXON Missense_R215Q exm427418 4 147796024 [A/G] NM_031956 TTC29 EXON Missense_R215W exm427423 4 147824864 [A/G] NM_031956 TTC29 EXON Missense_H140Y exm2269861 4 147825919 [T/C] NM_031956 TTC29 Silent exm427425 4 147830297 [A/G] NM_031956 TTC29 EXON Missense_L94P exm427427 4 147830310 [A/G] NM_031956 TTC29 EXON Missense_R90W exm427428 4 147830322 [G/C] NM_031956 TTC29 EXON Missense_A86P exm2067037 4 147830349 [A/G] NM_031956 TTC29 EXON Missense_Y77H exm427432 4 147858745 [T/C] NM_031956 TTC29 Silent exm427437 4 147860980 [A/G] NM_031956 TTC29 EXON Missense_P23L exm427438 4 147861011 [A/T] NM_031956 TTC29 EXON Nonsense_K13X exm2265771 4 148023829 [A/G] exm2265879 4 148029669 [A/G] exm-rs1395821 4 148047550 [T/C] exm-rs1429141 4 148288067 [T/C] exm427449 4 148407089 [A/G] NM_001256283,NR_045958,NM_001166055,NM_001957 EDNRA,EDNRA,EDNRA,EDNRA EXON Silent,Silent,Missense_I86V,Missense_I86V exm427469 4 148463745 [C/G] NM_001256283,NR_045958,NM_001166055,NM_001957 EDNRA,EDNRA,EDNRA,EDNRA EXON Missense_S195T,Silent,Missense_S311T,Missense_S420T exm427489 4 148555511 [A/G] NM_018241 TMEM184C EXON Missense_K415E exm427494 4 148559696 [A/G] NM_138364 PRMT10 EXON Missense_T842I exm427501 4 148559892 [T/C] NM_138364 PRMT10 EXON Missense_V777I exm427502 4 148559898 [T/C] NM_138364 PRMT10 EXON Missense_V775I exm427504 4 148560193 [T/C] NM_138364 PRMT10 EXON Missense_C747Y exm427505 4 148560197 [A/G] NM_138364 PRMT10 EXON Missense_P746S exm2067085 4 148560202 [A/G] NM_138364 PRMT10 EXON Missense_S744L exm427514 4 148563982 [A/G] NM_138364 PRMT10 EXON Missense_R719C exm427517 4 148564030 [G/C] NM_138364 PRMT10 EXON Missense_V703L exm427520 4 148575026 [T/C] NM_138364 PRMT10 EXON Missense_I674M exm2067090 4 148575258 [A/G] NM_138364 PRMT10 EXON Missense_I597T exm427528 4 148575268 [G/C] NM_138364 PRMT10 EXON Missense_L594V exm427545 4 148575639 [T/C] NM_138364 PRMT10 EXON Missense_S470N exm427546 4 148575648 [T/C] NM_138364 PRMT10 EXON Missense_Q467R exm427548 4 148575705 [T/C] NM_138364 PRMT10 EXON Missense_K448R exm427556 4 148579111 [T/C] NM_138364 PRMT10 EXON Missense_A388T exm2256396 4 148582090 [A/C] NM_138364 PRMT10 EXON Synonymous_P351P exm427561 4 148582130 [A/G] NM_138364 PRMT10 EXON Missense_P338L exm427562 4 148582152 [T/C] NM_138364 PRMT10 EXON Missense_T331A exm427572 4 148589711 [A/G] NM_138364 PRMT10 EXON Missense_A311V exm427573 4 148589774 [T/C] NM_138364 PRMT10 EXON Missense_C290Y exm427574 4 148589786 [T/C] NM_138364 PRMT10 EXON Missense_E286G exm427580 4 148591825 [A/C] NM_138364 PRMT10 EXON Missense_I271M exm427589 4 148594177 [T/C] NM_138364 PRMT10 EXON Missense_E226K exm427592 4 148594255 [T/C] NM_138364 PRMT10 EXON Missense_A200T exm427595 4 148594810 [T/C] NM_138364 PRMT10 EXON Missense_G185E exm427600 4 148601481 [G/C] NM_138364 PRMT10 EXON Missense_L111V exm2240522 4 148605078 [A/G] NM_138364 PRMT10 EXON Missense_R21W exm427624 4 148653570 [A/G] NM_024605 ARHGAP10 EXON Missense_I40V exm2269978 4 148763687 [T/C] NM_024605 ARHGAP10 Silent exm427642 4 148778794 [T/C] NM_024605 ARHGAP10 EXON Missense_H159Y exm427648 4 148787905 [A/G] NM_024605 ARHGAP10 EXON Missense_G214S exm427649 4 148787930 [A/G] NM_024605 ARHGAP10 EXON Missense_N222S exm427650 4 148787942 [T/C] NM_024605 ARHGAP10 EXON Missense_M226T exm2067141 4 148827791 [A/C] NM_024605 ARHGAP10 EXON Missense_P346H exm427678 4 148827850 [A/G] NM_024605 ARHGAP10 EXON Missense_A366T exm427681 4 148834245 [A/G] NM_024605 ARHGAP10 EXON Missense_G395R exm427701 4 148886191 [A/C] NM_024605 ARHGAP10 EXON Missense_E489D exm2067152 4 148886205 [T/C] NM_024605 ARHGAP10 EXON Missense_A494V exm2274050 4 148886241 [A/G] NM_024605 ARHGAP10 EXON Missense_N506S exm427708 4 148887925 [A/G] NM_024605 ARHGAP10 EXON Missense_A551T exm427715 4 148944427 [T/C] NM_024605 ARHGAP10 EXON Missense_P577L exm2274051 4 148944435 [A/G] NM_024605 ARHGAP10 EXON Missense_T580A exm427716 4 148944438 [A/G] NM_024605 ARHGAP10 EXON Missense_T581A exm427721 4 148944496 [T/C] NM_024605 ARHGAP10 EXON Missense_S600L exm427725 4 148944560 [A/C] NM_024605 ARHGAP10 EXON Missense_E621D exm427727 4 148968049 [A/G] NM_024605 ARHGAP10 EXON Missense_N625S exm427731 4 148968114 [A/G] NM_024605 ARHGAP10 EXON Missense_V647M exm427732 4 148968149 [G/C] NM_024605 ARHGAP10 EXON Missense_D658E exm427733 4 148968172 [A/G] NM_024605 ARHGAP10 EXON Missense_G666E exm427736 4 148968201 [A/G] NM_024605 ARHGAP10 EXON Missense_I676V exm-rs6845865 4 148974602 [T/C] NM_024605 ARHGAP10 Silent exm427742 4 148984321 [A/G] NM_024605 ARHGAP10 EXON Missense_M684V exm2256397 4 148984341 [A/C] NM_024605 ARHGAP10 EXON Synonymous_P690P exm427743 4 148984341 [A/C] NM_024605 ARHGAP10 EXON Synonymous_P690P exm427746 4 148984378 [A/G] NM_024605 ARHGAP10 EXON Missense_T703A exm427753 4 148985578 [A/G] NM_024605 ARHGAP10 EXON Missense_R731Q exm427756 4 148985592 [A/G] NM_024605 ARHGAP10 EXON Missense_V736M exm427772 4 149035319 [T/C] NM_001166104,NM_000901 NR3C2,NR3C2 EXON Missense_N795S,Missense_N912S exm427775 4 149041372 [T/C] NM_001166104,NM_000901 NR3C2,NR3C2 EXON Missense_V743I,Missense_V860I exm2256398 4 149063523 [T/C] NM_001166104,NM_000901 NR3C2,NR3C2 Silent,Silent exm427781 4 149075755 [T/C] NM_001166104,NM_000901 NR3C2,NR3C2 EXON Silent,Missense_R771H exm-rs1490453 4 149321346 [A/G] NM_001166104,NM_000901 NR3C2,NR3C2 Silent,Silent exm427804 4 149356308 [T/C] NM_001166104,NM_000901 NR3C2,NR3C2 EXON Missense_R569G,Missense_R569G exm427808 4 149356352 [T/C] NM_001166104,NM_000901 NR3C2,NR3C2 EXON Missense_N554S,Missense_N554S exm427822 4 149356682 [T/G] NM_001166104,NM_000901 NR3C2,NR3C2 EXON Missense_N444T,Missense_N444T exm427836 4 149357115 [C/G] NM_001166104,NM_000901 NR3C2,NR3C2 EXON Missense_P300A,Missense_P300A exm427840 4 149357246 [T/C] NM_001166104,NM_000901 NR3C2,NR3C2 EXON Missense_N256S,Missense_N256S exm427849 4 149357475 [T/C] NM_001166104,NM_000901 NR3C2,NR3C2 EXON Missense_V180I,Missense_V180I exm427866 4 149357910 [G/C] NM_001166104,NM_000901 NR3C2,NR3C2 EXON Missense_E35Q,Missense_E35Q exm-rs2358462 4 149570680 [T/C] exm-rs6826460 4 149605653 [A/G] exm2261630 4 149615561 [A/G] exm2265773 4 149748096 [A/G] exm2256400 4 150217461 [T/G] exm2265774 4 150554591 [A/G] exm2265881 4 150712923 [A/G] exm2265775 4 150990695 [A/G] exm427902 4 151119160 [A/G] NM_001040260,NR_036614,NM_001040261 DCLK2,DCLK2,DCLK2 EXON Missense_R289H,Silent,Missense_R289H exm427906 4 151119237 [A/G] NM_001040260,NR_036614,NM_001040261 DCLK2,DCLK2,DCLK2 EXON Missense_S315G,Silent,Missense_S315G exm427910 4 151141870 [A/G] NM_001040260,NR_036614,NM_001040261 DCLK2,DCLK2,DCLK2 EXON Missense_G358S,Silent,Missense_G375S exm427918 4 151145697 [A/G] NM_001040260,NR_036614,NM_001040261 DCLK2,DCLK2,DCLK2 EXON Missense_K429R,Silent,Missense_K446R exm427924 4 151153916 [A/G] NM_001040260,NR_036614,NM_001040261 DCLK2,DCLK2,DCLK2 EXON Missense_N501S,Silent,Missense_N518S exm427927 4 151153945 [A/G] NM_001040260,NR_036614,NM_001040261 DCLK2,DCLK2,DCLK2 EXON Missense_I511V,Silent,Missense_I528V exm427928 4 151160918 [A/C] NM_001040260,NR_036614,NM_001040261 DCLK2,DCLK2,DCLK2 EXON Missense_K531Q,Silent,Missense_K548Q exm2240525 4 151170776 [C/G] NM_001040260,NR_036614,NM_001040261 DCLK2,DCLK2,DCLK2 EXON Missense_Q671H,Silent,Missense_Q688H exm427950 4 151177172 [A/C] NM_001040260,NR_036614,NM_001040261 DCLK2,DCLK2,DCLK2 EXON Missense_N692H,Silent,Missense_N709H exm427965 4 151186882 [A/G] NM_001199282,NM_006726 LRBA,LRBA EXON Missense_R2850C,Missense_R2862C exm427966 4 151186906 [A/G] NM_001199282,NM_006726 LRBA,LRBA EXON Missense_R2842W,Missense_R2854W exm427972 4 151199033 [A/G] NM_001199282,NM_006726 LRBA,LRBA EXON Missense_R2813W,Missense_R2825W exm427975 4 151199070 [G/C] NM_001199282,NM_006726 LRBA,LRBA EXON Missense_K2800N,Missense_K2812N exm427976 4 151199080 [A/G] NM_001199282,NM_006726 LRBA,LRBA EXON Missense_S2797L,Missense_S2809L exm427979 4 151199155 [A/G] NM_001199282,NM_006726 LRBA,LRBA EXON Missense_A2772V,Missense_A2784V exm2274052 4 151203684 [A/G] NM_001199282,NM_006726 LRBA,LRBA EXON Missense_I2744T,Missense_I2756T exm427985 4 151207098 [G/C] NM_001199282,NM_006726 LRBA,LRBA EXON Missense_L2701F,Missense_L2713F exm427988 4 151207127 [T/C] NM_001199282,NM_006726 LRBA,LRBA EXON Missense_A2692T,Missense_A2704T exm427994 4 151207180 [A/G] NM_001199282,NM_006726 LRBA,LRBA EXON Missense_T2674I,Missense_T2686I exm428004 4 151223915 [A/G] NM_001199282,NM_006726 LRBA,LRBA EXON Missense_W2627R,Missense_W2638R exm428007 4 151231390 [T/C] NM_001199282,NM_006726 LRBA,LRBA EXON Missense_T2614A,Missense_T2625A exm428026 4 151242409 [T/G] NM_001199282,NM_006726 LRBA,LRBA EXON Missense_T2522P,Missense_T2533P exm-rs6817572 4 151303318 [A/G] NM_001199282,NM_006726 LRBA,LRBA Silent,Silent exm2067284 4 151356766 [A/C] NM_001199282,NM_006726 LRBA,LRBA EXON Missense_S2339I,Missense_S2350I exm428046 4 151357876 [T/C] NM_001199282,NM_006726 LRBA,LRBA EXON Missense_I2307M,Missense_I2318M exm428049 4 151357910 [T/G] NM_001199282,NM_006726 LRBA,LRBA EXON Missense_T2296N,Missense_T2307N exm428050 4 151357945 [T/G] NM_001199282,NM_006726 LRBA,LRBA EXON Missense_Q2284H,Missense_Q2295H exm428054 4 151357970 [T/C] NM_001199282,NM_006726 LRBA,LRBA EXON Missense_R2276H,Missense_R2287H exm2265776 4 151368816 [A/G] NM_001199282,NM_006726 LRBA,LRBA Silent,Silent exm428060 4 151392781 [A/G] NM_001199282,NM_006726 LRBA,LRBA EXON Missense_I2221T,Missense_I2232T exm2067299 4 151504191 [A/G] NM_001199282,NM_006726,NM_006439 LRBA,LRBA,MAB21L2 EXON Silent,Silent,Missense_A4T exm428079 4 151504381 [A/G] NM_001199282,NM_006726,NM_006439 LRBA,LRBA,MAB21L2 EXON Silent,Silent,Missense_E67G exm428085 4 151504638 [A/G] NM_001199282,NM_006726,NM_006439 LRBA,LRBA,MAB21L2 EXON Silent,Silent,Missense_A153T exm2275774 4 151509208 [C/G] NM_001199282,NM_006726 LRBA,LRBA EXON Missense_D2108H,Missense_D2119H exm428113 4 151509316 [A/G] NM_001199282,NM_006726 LRBA,LRBA EXON Missense_P2072S,Missense_P2083S exm428115 4 151511866 [A/G] NM_001199282,NM_006726 LRBA,LRBA EXON Synonymous_A2064A,Synonymous_A2075A exm428117 4 151511895 [T/C] NM_001199282,NM_006726 LRBA,LRBA EXON Missense_V2055M,Missense_V2066M exm428125 4 151520160 [A/G] NM_001199282,NM_006726 LRBA,LRBA EXON Synonymous_H2015H,Synonymous_H2015H exm428128 4 151520216 [A/G] NM_001199282,NM_006726 LRBA,LRBA EXON Missense_R1997C,Missense_R1997C exm428132 4 151520264 [A/G] NM_001199282,NM_006726 LRBA,LRBA EXON Missense_R1981C,Missense_R1981C exm2269979 4 151574839 [T/C] NM_001199282,NM_006726 LRBA,LRBA Silent,Silent exm428135 4 151604793 [T/C] NM_001199282,NM_006726 LRBA,LRBA EXON Missense_Y1944C,Missense_Y1944C exm428148 4 151719263 [A/G] NM_001199282,NM_006726 LRBA,LRBA EXON Synonymous_V1850V,Synonymous_V1850V exm428162 4 151749354 [T/C] NM_001199282,NM_006726 LRBA,LRBA EXON Missense_V1717M,Missense_V1717M exm428166 4 151749473 [T/C] NM_001199282,NM_006726 LRBA,LRBA EXON Missense_N1677S,Missense_N1677S exm428167 4 151749477 [T/C] NM_001199282,NM_006726 LRBA,LRBA EXON Missense_V1676I,Missense_V1676I exm428168 4 151749491 [A/G] NM_001199282,NM_006726 LRBA,LRBA EXON Missense_S1671L,Missense_S1671L exm428176 4 151749602 [A/G] NM_001199282,NM_006726 LRBA,LRBA EXON Missense_P1634L,Missense_P1634L exm428178 4 151749648 [A/C] NM_001199282,NM_006726 LRBA,LRBA EXON Missense_V1619L,Missense_V1619L exm428192 4 151753107 [A/C] NM_001199282,NM_006726 LRBA,LRBA EXON Missense_F1531V,Missense_F1531V exm428206 4 151765814 [A/G] NM_001199282,NM_006726 LRBA,LRBA EXON Missense_A1486V,Missense_A1486V exm428220 4 151770138 [A/T] NM_001199282,NM_006726 LRBA,LRBA EXON Missense_N1391Y,Missense_N1391Y exm428225 4 151770632 [T/C] NM_001199282,NM_006726 LRBA,LRBA EXON Missense_N1367S,Missense_N1367S exm428232 4 151771966 [T/C] NM_001199282,NM_006726 LRBA,LRBA EXON Missense_R1305H,Missense_R1305H exm428234 4 151772006 [T/C] NM_001199282,NM_006726 LRBA,LRBA EXON Missense_V1292I,Missense_V1292I exm428236 4 151772021 [T/C] NM_001199282,NM_006726 LRBA,LRBA EXON Missense_I1287V,Missense_I1287V exm2274053 4 151773098 [G/C] NM_001199282,NM_006726 LRBA,LRBA EXON Missense_R1255T,Missense_R1255T exm428240 4 151773111 [T/C] NM_001199282,NM_006726 LRBA,LRBA EXON Missense_T1251A,Missense_T1251A exm428242 4 151773119 [T/C] NM_001199282,NM_006726 LRBA,LRBA EXON Missense_N1248S,Missense_N1248S exm428245 4 151773173 [T/C] NM_001199282,NM_006726 LRBA,LRBA EXON Missense_G1230D,Missense_G1230D exm428252 4 151773294 [T/C] NM_001199282,NM_006726 LRBA,LRBA EXON Missense_M1190V,Missense_M1190V exm428256 4 151773363 [T/C] NM_001199282,NM_006726 LRBA,LRBA EXON Missense_T1167A,Missense_T1167A exm428259 4 151773455 [A/G] NM_001199282,NM_006726 LRBA,LRBA EXON Missense_P1136L,Missense_P1136L exm428265 4 151773512 [A/C] NM_001199282,NM_006726 LRBA,LRBA EXON Missense_G1117V,Missense_G1117V exm428266 4 151773531 [A/C] NM_001199282,NM_006726 LRBA,LRBA EXON Missense_V1111L,Missense_V1111L exm428268 4 151773593 [G/C] NM_001199282,NM_006726 LRBA,LRBA EXON Missense_A1090G,Missense_A1090G exm428269 4 151773600 [G/C] NM_001199282,NM_006726 LRBA,LRBA EXON Missense_E1088Q,Missense_E1088Q exm428271 4 151773684 [T/C] NM_001199282,NM_006726 LRBA,LRBA EXON Missense_I1060V,Missense_I1060V exm428273 4 151773743 [T/C] NM_001199282,NM_006726 LRBA,LRBA EXON Missense_N1040S,Missense_N1040S exm2067367 4 151773798 [T/C] NM_001199282,NM_006726 LRBA,LRBA EXON Missense_E1022K,Missense_E1022K exm428287 4 151788915 [T/C] NM_001199282,NM_006726 LRBA,LRBA EXON Missense_A892T,Missense_A892T exm428302 4 151791682 [T/C] NM_001199282,NM_006726 LRBA,LRBA EXON Missense_N815S,Missense_N815S exm428311 4 151792589 [T/G] NM_001199282,NM_006726 LRBA,LRBA EXON Missense_M759L,Missense_M759L exm428314 4 151793864 [T/C] NM_001199282,NM_006726 LRBA,LRBA EXON Missense_V737I,Missense_V737I exm428315 4 151793903 [T/C] NM_001199282,NM_006726 LRBA,LRBA EXON Missense_I724V,Missense_I724V exm428317 4 151814257 [T/C] NM_001199282,NM_006726 LRBA,LRBA EXON Missense_M704I,Missense_M704I exm428332 4 151821354 [A/G] NM_001199282,NM_006726 LRBA,LRBA EXON Missense_Y591H,Missense_Y591H exm428333 4 151827013 [T/C] NM_001199282,NM_006726 LRBA,LRBA EXON Missense_I578V,Missense_I578V exm428341 4 151827510 [A/G] NM_001199282,NM_006726 LRBA,LRBA EXON Missense_A514V,Missense_A514V exm428360 4 151835483 [T/C] NM_001199282,NM_006726 LRBA,LRBA EXON Missense_K342R,Missense_K342R exm428361 4 151836824 [T/C] NM_001199282,NM_006726 LRBA,LRBA EXON Missense_R317Q,Missense_R317Q exm428367 4 151837660 [C/G] NM_001199282,NM_006726 LRBA,LRBA EXON Missense_L263V,Missense_L263V exm428368 4 151837787 [A/T] NM_001199282,NM_006726 LRBA,LRBA EXON Missense_D250V,Missense_D250V exm2240529 4 151842358 [T/C] NM_001199282,NM_006726 LRBA,LRBA EXON Missense_S213G,Missense_S213G exm428390 4 151935601 [A/G] NM_001199282,NM_006726 LRBA,LRBA EXON Missense_I65T,Missense_I65T exm2067409 4 151935622 [C/G] NM_001199282,NM_006726 LRBA,LRBA EXON Missense_G58A,Missense_G58A exm428398 4 151935713 [T/C] NM_001199282,NM_006726 LRBA,LRBA EXON Missense_T28A,Missense_T28A exm428399 4 151935743 [T/C] NM_001199282,NM_006726 LRBA,LRBA EXON Missense_G18R,Missense_G18R exm428400 4 151935787 [T/C] NM_001199282,NM_006726 LRBA,LRBA EXON Missense_S3N,Missense_S3N exm428438 4 152048801 [T/C] NM_001128923,NM_001243349,NM_001128924,NM_001009555 SH3D19,SH3D19,SH3D19,SH3D19 EXON Missense_R719Q,Missense_R719Q,Missense_R683Q,Missense_R742Q exm428446 4 152049337 [T/C] NM_001128923,NM_001243349,NM_001128924,NM_001009555 SH3D19,SH3D19,SH3D19,SH3D19 EXON Missense_V692M,Missense_V692M,Missense_V656M,Missense_V715M exm2067440 4 152054218 [T/A] NM_001128923,NM_001243349,NM_001128924,NM_001009555 SH3D19,SH3D19,SH3D19,SH3D19 EXON Missense_E606V,Missense_E606V,Missense_E570V,Missense_E629V exm428452 4 152054221 [A/G] NM_001128923,NM_001243349,NM_001128924,NM_001009555 SH3D19,SH3D19,SH3D19,SH3D19 EXON Missense_V605A,Missense_V605A,Missense_V569A,Missense_V628A exm428459 4 152058913 [T/C] NM_001128923,NM_001243349,NM_001128924,NM_001009555 SH3D19,SH3D19,SH3D19,SH3D19 EXON Missense_I520V,Missense_I520V,Missense_I484V,Missense_I543V exm2067445 4 152065120 [T/C] NM_001128923,NM_001243349,NM_001128924,NM_001009555 SH3D19,SH3D19,SH3D19,SH3D19 EXON Missense_H442R,Missense_H442R,Missense_H406R,Missense_H465R exm428470 4 152065190 [A/G] NM_001128923,NM_001243349,NM_001128924,NM_001009555 SH3D19,SH3D19,SH3D19,SH3D19 EXON Missense_L419F,Missense_L419F,Missense_L383F,Missense_L442F exm428473 4 152065201 [T/C] NM_001128923,NM_001243349,NM_001128924,NM_001009555 SH3D19,SH3D19,SH3D19,SH3D19 EXON Missense_R415H,Missense_R415H,Missense_R379H,Missense_R438H exm428474 4 152065202 [A/G] NM_001128923,NM_001243349,NM_001128924,NM_001009555 SH3D19,SH3D19,SH3D19,SH3D19 EXON Missense_R415C,Missense_R415C,Missense_R379C,Missense_R438C exm428475 4 152065392 [A/G] NM_001128923,NM_001243349,NM_001128924,NM_001009555 SH3D19,SH3D19,SH3D19,SH3D19 EXON Silent,Silent,Silent,Missense_P431S exm428480 4 152069075 [A/G] NM_001128923,NM_001243349,NM_001128924,NM_001009555 SH3D19,SH3D19,SH3D19,SH3D19 EXON Missense_M414T,Missense_M414T,Missense_M378T,Missense_M414T exm428482 4 152069090 [A/G] NM_001128923,NM_001243349,NM_001128924,NM_001009555 SH3D19,SH3D19,SH3D19,SH3D19 EXON Missense_L409P,Missense_L409P,Missense_L373P,Missense_L409P exm428507 4 152096013 [A/G] NM_001128923,NM_001243349,NM_001128924,NM_001009555 SH3D19,SH3D19,SH3D19,SH3D19 EXON Missense_P168L,Missense_P168L,Missense_P168L,Missense_P168L exm428510 4 152096094 [T/C] NM_001128923,NM_001243349,NM_001128924,NM_001009555 SH3D19,SH3D19,SH3D19,SH3D19 EXON Missense_R141Q,Missense_R141Q,Missense_R141Q,Missense_R141Q exm428521 4 152096180 [T/C] NM_001128923,NM_001243349,NM_001128924,NM_001009555 SH3D19,SH3D19,SH3D19,SH3D19 EXON Missense_I112M,Missense_I112M,Missense_I112M,Missense_I112M exm428528 4 152096377 [T/C] NM_001128923,NM_001243349,NM_001128924,NM_001009555 SH3D19,SH3D19,SH3D19,SH3D19 EXON Missense_T47A,Missense_T47A,Missense_T47A,Missense_T47A exm428537 4 152201011 [A/G] NM_183375 PRSS48 EXON Nonsense_W39X exm428542 4 152201031 [T/C] NM_183375 PRSS48 EXON Missense_H46Y exm428543 4 152201053 [A/G] NM_183375 PRSS48 EXON Missense_C53Y exm428544 4 152201067 [A/G] NM_183375 PRSS48 EXON Missense_V58I exm428556 4 152203437 [T/C] NM_183375 PRSS48 EXON Missense_L118S exm428557 4 152203451 [G/C] NM_183375 PRSS48 EXON Missense_Q123E exm428561 4 152203562 [T/G] NM_183375 PRSS48 EXON Missense_S160A exm428576 4 152212475 [T/C] NM_183375 PRSS48 EXON Missense_L286P exm428579 4 152212580 [C/G] NM_183375 PRSS48 EXON Missense_W321S exm428580 4 152212603 [T/G] NM_183375 PRSS48 EXON Missense_X329E exm2269865 4 152244318 [T/G] exm-rs2709828 4 152355268 [T/C] NM_001109977 FAM160A1 Silent exm428589 4 152498875 [A/G] NM_001109977 FAM160A1 EXON Missense_T127A exm428593 4 152499143 [A/G] NM_001109977 FAM160A1 EXON Missense_R216Q exm428594 4 152499205 [A/G] NM_001109977 FAM160A1 EXON Missense_V237M exm428605 4 152550918 [A/G] NM_001109977 FAM160A1 EXON Missense_E348G exm428620 4 152570638 [T/C] NM_001109977 FAM160A1 EXON Missense_A482V exm2240536 4 152570824 [A/G] NM_001109977 FAM160A1 EXON Missense_S544N exm428628 4 152570833 [T/C] NM_001109977 FAM160A1 EXON Missense_S547L exm428639 4 152571453 [A/C] NM_001109977 FAM160A1 EXON Missense_Q754K exm428640 4 152571525 [T/G] NM_001109977 FAM160A1 EXON Missense_D778Y exm2256407 4 152577526 [T/C] NM_001109977 FAM160A1 EXON Synonymous_N898N exm428653 4 152577960 [A/G] NM_001109977 FAM160A1 EXON Missense_R927G exm428656 4 152583764 [G/C] NM_001109977 FAM160A1 EXON Missense_P994R exm428666 4 152592396 [T/C] NM_004564 PET112 EXON Missense_R535Q exm2256408 4 152609784 [T/C] NM_004564 PET112 EXON Synonymous_E443E exm428676 4 152609784 [T/C] NM_004564 PET112 EXON Synonymous_E443E exm428680 4 152609803 [T/C] NM_004564 PET112 EXON Missense_Q437R exm428682 4 152609838 [T/C] NM_004564 PET112 EXON Nonsense_W425X exm428685 4 152609915 [T/C] NM_004564 PET112 EXON Missense_N400D exm428687 4 152622518 [A/T] NM_004564 PET112 EXON Missense_Q387L exm428690 4 152622533 [T/C] NM_004564 PET112 EXON Missense_E382G exm428693 4 152622545 [A/C] NM_004564 PET112 EXON Missense_S378I exm428695 4 152622557 [A/G] NM_004564 PET112 EXON Missense_P374L exm2067493 4 152622623 [A/G] NM_004564 PET112 EXON Missense_T352I exm428707 4 152629194 [T/C] NM_004564 PET112 EXON Missense_V275I exm428709 4 152629221 [T/C] NM_004564 PET112 EXON Missense_V266M exm428714 4 152637172 [A/G] NM_004564 PET112 EXON Missense_A251V exm428715 4 152637217 [T/A] NM_004564 PET112 EXON Missense_V236D exm428717 4 152637229 [A/G] NM_004564 PET112 EXON Missense_A232V exm428723 4 152638153 [A/C] NM_004564 PET112 EXON Missense_G172V exm428724 4 152638163 [T/C] NM_004564 PET112 EXON Missense_V169I exm428727 4 152638226 [A/C] NM_004564 PET112 EXON Missense_A148S exm428730 4 152640633 [A/G] NM_004564 PET112 EXON Missense_H129Y exm428736 4 152679964 [A/G] NM_004564 PET112 EXON Missense_L96S exm428743 4 152681998 [A/G] NM_004564 PET112 EXON Missense_A46V exm428747 4 152682046 [T/G] NM_004564 PET112 EXON Missense_A30D exm428750 4 152682110 [A/C] NM_004564 PET112 EXON Missense_G9C exm2265777 4 152900692 [A/G] exm-rs360929 4 152907700 [A/G] exm2269980 4 152994226 [T/C] exm2067541 4 153268198 [T/C] NM_001013415,NM_018315,NM_033632 FBXW7,FBXW7,FBXW7 EXON Missense_A86T,Missense_A124T,Missense_A204T exm428789 4 153271203 [T/G] NM_001013415,NM_018315,NM_033632 FBXW7,FBXW7,FBXW7 EXON Missense_E74A,Missense_E112A,Missense_E192A exm428791 4 153271242 [T/C] NM_001013415,NM_018315,NM_033632 FBXW7,FBXW7,FBXW7 EXON Missense_R61H,Missense_R99H,Missense_R179H exm428798 4 153273707 [T/C] NM_001013415,NM_018315,NM_033632 FBXW7,FBXW7,FBXW7 EXON Silent,Missense_R59Q,Silent exm428806 4 153303361 [A/G] NM_001013415,NM_033632 FBXW7,FBXW7 EXON Missense_L43F,Silent exm428815 4 153332477 [A/G] NM_033632,NM_001257069 FBXW7,FBXW7 EXON Missense_P160L,Missense_P160L exm428816 4 153332492 [T/C] NM_033632,NM_001257069 FBXW7,FBXW7 EXON Missense_H155R,Missense_H155R exm428818 4 153332496 [T/C] NM_033632,NM_001257069 FBXW7,FBXW7 EXON Missense_V154I,Missense_V154I exm2240544 4 153332540 [T/C] NM_033632,NM_001257069 FBXW7,FBXW7 EXON Missense_H139R,Missense_H139R exm428821 4 153332559 [T/C] NM_033632,NM_001257069 FBXW7,FBXW7 EXON Missense_R133G,Missense_R133G exm-rs6813195 4 153520475 [T/C] exm428851 4 153562095 [A/G] NM_152680 TMEM154 EXON Missense_S174L exm428854 4 153564250 [T/C] NM_152680 TMEM154 EXON Missense_M156I exm2067558 4 153564305 [A/G] NM_152680 TMEM154 EXON Missense_T138I exm2256410 4 153568434 [T/G] NM_152680 TMEM154 Silent exm428862 4 153573692 [A/G] NM_152680 TMEM154 EXON Missense_T121I exm2264070 4 153669008 [A/C] exm428882 4 153690691 [T/C] NM_145720 TIGD4 EXON Missense_Q489R exm428883 4 153690727 [A/G] NM_145720 TIGD4 EXON Missense_T477I exm428887 4 153690842 [T/C] NM_145720 TIGD4 EXON Missense_I439V exm428889 4 153690863 [T/C] NM_145720 TIGD4 EXON Missense_A432T exm428901 4 153691222 [A/G] NM_145720 TIGD4 EXON Missense_S312F exm428908 4 153691316 [A/G] NM_145720 TIGD4 EXON Nonsense_R281X exm428915 4 153691499 [A/T] NM_145720 TIGD4 EXON Missense_T220S exm428916 4 153691528 [T/C] NM_145720 TIGD4 EXON Missense_C210Y exm428921 4 153691747 [T/G] NM_145720 TIGD4 EXON Missense_K137T exm428928 4 153691999 [A/G] NM_145720 TIGD4 EXON Missense_L53S exm428949 4 153791955 [C/G] NM_001025593,NM_014447,NM_001025595 ARFIP1,ARFIP1,ARFIP1 EXON Silent,Silent,Missense_A85P exm428958 4 153802203 [A/G] NM_001025593,NM_014447,NM_001025595 ARFIP1,ARFIP1,ARFIP1 EXON Missense_D135G,Missense_D135G,Missense_D167G exm428959 4 153802224 [A/G] NM_001025593,NM_014447,NM_001025595 ARFIP1,ARFIP1,ARFIP1 EXON Missense_N142S,Missense_N142S,Missense_N174S exm2067583 4 153802307 [A/G] NM_001025593,NM_014447,NM_001025595 ARFIP1,ARFIP1,ARFIP1 EXON Missense_D170N,Missense_D170N,Missense_D202N exm2067587 4 153809287 [T/C] NM_001025593,NM_014447,NM_001025595 ARFIP1,ARFIP1,ARFIP1 EXON Missense_I233T,Missense_I233T,Missense_I265T exm428976 4 153831260 [T/G] NM_001025593,NM_014447,NM_001025595 ARFIP1,ARFIP1,ARFIP1 EXON Missense_I305M,Missense_I305M,Missense_I337M exm428983 4 153864319 [T/C] NM_033393 FHDC1 EXON Missense_P37L exm428984 4 153864333 [T/C] NM_033393 FHDC1 EXON Missense_P42S exm428996 4 153864453 [A/G] NM_033393 FHDC1 EXON Missense_T82A exm429003 4 153864520 [T/C] NM_033393 FHDC1 EXON Missense_T104I exm429012 4 153874666 [A/G] NM_033393 FHDC1 EXON Missense_A172T exm429013 4 153874672 [T/C] NM_033393 FHDC1 EXON Missense_R174W exm429014 4 153874690 [A/G] NM_033393 FHDC1 EXON Missense_I180V exm429015 4 153874712 [A/G] NM_033393 FHDC1 EXON Missense_K187R exm429016 4 153875376 [C/G] NM_033393 FHDC1 EXON Missense_R190G exm429027 4 153881744 [A/G] NM_033393 FHDC1 EXON Missense_D231N exm2240548 4 153889149 [T/C] NM_033393 FHDC1 EXON Missense_T373M exm429044 4 153889208 [T/C] NM_033393 FHDC1 EXON Missense_R393W exm429045 4 153889209 [A/G] NM_033393 FHDC1 EXON Missense_R393Q exm-rs11099864 4 153893354 [A/G] NM_033393 FHDC1 Silent exm429052 4 153895836 [A/G] NM_033393 FHDC1 EXON Missense_D465N exm429053 4 153895839 [T/C] NM_033393 FHDC1 EXON Missense_R466W exm429055 4 153895896 [T/C] NM_033393 FHDC1 EXON Missense_R485C exm429056 4 153895897 [A/G] NM_033393 FHDC1 EXON Missense_R485H exm429057 4 153895986 [A/C] NM_033393 FHDC1 EXON Missense_L515M exm2067627 4 153896160 [T/C] NM_033393 FHDC1 EXON Missense_R573W exm429071 4 153896172 [T/C] NM_033393 FHDC1 EXON Missense_R577W exm429074 4 153896257 [T/C] NM_033393 FHDC1 EXON Missense_S605L exm429078 4 153896299 [A/C] NM_033393 FHDC1 EXON Missense_A619E exm429082 4 153896338 [T/C] NM_033393 FHDC1 EXON Missense_S632F exm429085 4 153896358 [T/C] NM_033393 FHDC1 EXON Missense_R639C exm429087 4 153896367 [A/G] NM_033393 FHDC1 EXON Missense_V642I exm429088 4 153896380 [A/G] NM_033393 FHDC1 EXON Missense_R646Q exm429096 4 153896619 [C/G] NM_033393 FHDC1 EXON Missense_P726A exm429097 4 153896643 [T/A] NM_033393 FHDC1 EXON Missense_S734C exm429098 4 153896656 [T/C] NM_033393 FHDC1 EXON Missense_A738V exm429103 4 153896691 [A/G] NM_033393 FHDC1 EXON Missense_G750R exm429110 4 153896780 [G/C] NM_033393 FHDC1 EXON Missense_C779W exm429125 4 153896982 [A/G] NM_033393 FHDC1 EXON Missense_G847S exm429127 4 153897004 [T/C] NM_033393 FHDC1 EXON Missense_T854I exm429129 4 153897024 [C/G] NM_033393 FHDC1 EXON Missense_A861P exm429135 4 153897094 [A/T] NM_033393 FHDC1 EXON Missense_Q884L exm429153 4 153897516 [A/G] NM_033393 FHDC1 EXON Missense_V1025I exm429159 4 153897567 [T/G] NM_033393 FHDC1 EXON Missense_S1042A exm429167 4 153897690 [A/G] NM_033393 FHDC1 EXON Missense_S1083G exm2274054 4 153897817 [A/G] NM_033393 FHDC1 EXON Missense_R1125H exm2265883 4 154124278 [A/G] NM_001130067 TRIM2 Silent exm-rs12644284 4 154154000 [A/G] NM_001130067,NM_015271 TRIM2,TRIM2 Silent,Silent exm429180 4 154191578 [A/G] NM_001130067,NM_015271 TRIM2,TRIM2 EXON Missense_R14H,Missense_R41H exm429195 4 154214200 [A/G] NM_001130067,NM_015271 TRIM2,TRIM2 EXON Missense_A147T,Missense_A174T exm429201 4 154215528 [A/G] NM_001130067,NM_015271 TRIM2,TRIM2 EXON Missense_S199N,Missense_S226N exm429219 4 154216666 [A/G] NM_001130067,NM_015271 TRIM2,TRIM2 EXON Missense_V303M,Missense_V330M exm429239 4 154217059 [G/C] NM_001130067,NM_015271 TRIM2,TRIM2 EXON Missense_V434L,Missense_V461L exm429245 4 154217147 [T/G] NM_001130067,NM_015271 TRIM2,TRIM2 EXON Missense_R463L,Missense_R490L exm2240553 4 154245247 [A/G] NM_001130067,NM_015271 TRIM2,TRIM2 EXON Missense_V630I,Missense_V657I exm429259 4 154245268 [A/G] NM_001130067,NM_015271 TRIM2,TRIM2 EXON Missense_I637V,Missense_I664V exm429269 4 154255999 [A/G] NM_001130067,NM_015271 TRIM2,TRIM2 EXON Missense_I706V,Missense_I733V exm429270 4 154256017 [T/C] NM_001130067,NM_015271 TRIM2,TRIM2 EXON Missense_P712S,Missense_P739S exm429292 4 154279749 [A/G] NR_045605,NM_032117,NM_001253861 MND1,MND1,MND1 EXON Silent,Missense_H84R,Missense_H84R exm2067677 4 154279752 [A/T] NR_045605,NM_032117,NM_001253861 MND1,MND1,MND1 EXON Silent,Missense_K85M,Missense_K85M exm429295 4 154315487 [T/C] NR_045605,NM_032117,NM_001253861 MND1,MND1,MND1 EXON Silent,Missense_T117M,Missense_T117M exm429297 4 154318381 [C/G] NR_045605,NM_032117,NM_001253861 MND1,MND1,MND1 EXON Silent,Missense_T121S,Silent exm429298 4 154318384 [C/G] NR_045605,NM_032117,NM_001253861 MND1,MND1,MND1 EXON Silent,Missense_R122T,Silent exm429299 4 154318460 [T/G] NR_045605,NM_032117,NM_001253861 MND1,MND1,MND1 EXON Silent,Missense_C147W,Silent exm429308 4 154335938 [A/C] NR_045605,NM_032117,NM_001253861 MND1,MND1,MND1 EXON Silent,Missense_K183Q,Silent exm429316 4 154388363 [T/C] NM_015196,NM_001131007 KIAA0922,KIAA0922 EXON Missense_A42V,Missense_A42V exm2269867 4 154415184 [T/C] NM_015196,NM_001131007 KIAA0922,KIAA0922 Silent,Silent exm429320 4 154471243 [T/G] NM_015196,NM_001131007 KIAA0922,KIAA0922 EXON Missense_F86L,Missense_F86L exm429323 4 154477046 [T/C] NM_015196,NM_001131007 KIAA0922,KIAA0922 EXON Missense_P139L,Missense_P139L exm429327 4 154478212 [T/C] NM_015196,NM_001131007 KIAA0922,KIAA0922 EXON Missense_S176L,Missense_S176L exm429345 4 154502559 [C/G] NM_015196,NM_001131007 KIAA0922,KIAA0922 EXON Missense_G247R,Missense_G247R exm429346 4 154502566 [A/G] NM_015196,NM_001131007 KIAA0922,KIAA0922 EXON Missense_Y249C,Missense_Y249C exm429361 4 154504740 [A/G] NM_015196,NM_001131007 KIAA0922,KIAA0922 EXON Missense_D326N,Missense_D326N exm429362 4 154504779 [A/G] NM_015196,NM_001131007 KIAA0922,KIAA0922 EXON Missense_T339A,Missense_T339A exm429364 4 154505986 [A/G] NM_015196,NM_001131007 KIAA0922,KIAA0922 Silent,Silent exm429375 4 154506707 [T/C] NM_015196,NM_001131007 KIAA0922,KIAA0922 EXON Missense_R418C,Missense_R419C exm429384 4 154508940 [A/C] NM_015196,NM_001131007 KIAA0922,KIAA0922 EXON Missense_Y509S,Missense_Y510S exm429385 4 154508962 [A/T] NM_015196,NM_001131007 KIAA0922,KIAA0922 EXON Synonymous_A516A,Synonymous_A517A exm429390 4 154510126 [C/G] NM_015196,NM_001131007 KIAA0922,KIAA0922 EXON Missense_R545T,Missense_R546T exm429392 4 154510150 [A/G] NM_015196,NM_001131007 KIAA0922,KIAA0922 EXON Missense_D553G,Missense_D554G exm429399 4 154512329 [A/G] NM_015196,NM_001131007 KIAA0922,KIAA0922 EXON Missense_A598T,Missense_A599T exm429400 4 154513627 [A/G] NM_015196,NM_001131007 KIAA0922,KIAA0922 EXON Missense_I604V,Missense_I605V exm429406 4 154514965 [T/C] NM_015196,NM_001131007 KIAA0922,KIAA0922 EXON Missense_M645T,Missense_M646T exm429407 4 154514973 [T/A] NM_015196,NM_001131007 KIAA0922,KIAA0922 EXON Missense_I648F,Missense_I649F exm2240558 4 154517411 [T/G] NM_015196,NM_001131007 KIAA0922,KIAA0922 EXON Missense_G665V,Missense_G666V exm2256413 4 154517484 [A/C] NM_015196,NM_001131007 KIAA0922,KIAA0922 EXON Synonymous_G689G,Synonymous_G690G exm429419 4 154519764 [A/G] NM_015196,NM_001131007 KIAA0922,KIAA0922 EXON Missense_M715V,Missense_M716V exm2240560 4 154523405 [T/C] NM_015196,NM_001131007 KIAA0922,KIAA0922 EXON Missense_Y789H,Missense_Y790H exm429435 4 154523749 [A/G] NM_015196,NM_001131007 KIAA0922,KIAA0922 EXON Missense_A836T,Missense_A837T exm429438 4 154523845 [A/G] NM_015196,NM_001131007 KIAA0922,KIAA0922 EXON Missense_E868K,Missense_E869K exm429454 4 154525138 [A/G] NM_015196,NM_001131007 KIAA0922,KIAA0922 EXON Missense_T991A,Missense_T992A exm429461 4 154525360 [A/G] NM_015196,NM_001131007 KIAA0922,KIAA0922 EXON Missense_V1065I,Missense_V1066I exm429469 4 154525420 [T/C] NM_015196,NM_001131007 KIAA0922,KIAA0922 EXON Missense_P1085S,Missense_P1086S exm429470 4 154525446 [A/C] NM_015196,NM_001131007 KIAA0922,KIAA0922 EXON Synonymous_S1093S,Synonymous_S1094S exm429473 4 154525471 [T/C] NM_015196,NM_001131007 KIAA0922,KIAA0922 EXON Missense_R1102W,Missense_R1103W exm429477 4 154525541 [A/G] NM_015196,NM_001131007 KIAA0922,KIAA0922 EXON Missense_Y1125C,Missense_Y1126C exm429482 4 154533506 [C/G] NM_015196,NM_001131007 KIAA0922,KIAA0922 EXON Missense_S1173C,Missense_S1174C exm429484 4 154541935 [T/C] NM_015196,NM_001131007 KIAA0922,KIAA0922 EXON Missense_L1198F,Missense_L1199F exm429492 4 154542905 [A/G] NM_015196,NM_001131007 KIAA0922,KIAA0922 EXON Missense_N1254D,Missense_N1255D exm429493 4 154542906 [A/G] NM_015196,NM_001131007 KIAA0922,KIAA0922 EXON Missense_N1254S,Missense_N1255S exm429500 4 154544148 [T/C] NM_015196,NM_001131007 KIAA0922,KIAA0922 EXON Missense_R1319W,Missense_R1320W exm429514 4 154548809 [C/G] NM_015196,NM_001131007 KIAA0922,KIAA0922 EXON Missense_A1392P,Missense_A1393P exm2274055 4 154556599 [T/C] NM_015196,NM_001131007 KIAA0922,KIAA0922 EXON Missense_A1477V,Missense_A1478V exm429530 4 154556680 [A/G] NM_015196,NM_001131007 KIAA0922,KIAA0922 EXON Missense_N1504S,Missense_N1505S exm429540 4 154557616 [T/C] NM_015196,NM_001131007 KIAA0922,KIAA0922 EXON Missense_P1573L,Missense_P1574L exm429547 4 154624136 [T/C] NM_003264 TLR2 EXON Missense_A26V exm429549 4 154624178 [T/C] NM_003264 TLR2 EXON Missense_S40L exm2067766 4 154624227 [C/G] NM_003264 TLR2 EXON Missense_S56R exm429556 4 154624316 [A/G] NM_003264 TLR2 EXON Missense_N86S exm429559 4 154624330 [A/G] NM_003264 TLR2 EXON Missense_I91V exm429564 4 154624472 [T/C] NM_003264 TLR2 EXON Missense_T138I exm429569 4 154624585 [T/C] NM_003264 TLR2 EXON Missense_L176F exm429571 4 154624648 [T/A] NM_003264 TLR2 EXON Missense_I197F exm429575 4 154624709 [T/C] NM_003264 TLR2 EXON Missense_F217S exm429581 4 154624857 [C/G] NM_003264 TLR2 EXON Missense_L266F exm429582 4 154624864 [G/C] NM_003264 TLR2 EXON Missense_V269L exm429590 4 154625118 [T/A] NM_003264 TLR2 EXON Nonsense_C353X exm429591 4 154625126 [C/G] NM_003264 TLR2 EXON Nonsense_S356X exm2067772 4 154625259 [A/G] NM_003264 TLR2 EXON Synonymous_A400A exm2256415 4 154625259 [A/G] NM_003264 TLR2 EXON Synonymous_A400A exm2240563 4 154625291 [T/C] NM_003264 TLR2 EXON Missense_T411I exm429599 4 154625398 [T/C] NM_003264 TLR2 EXON Nonsense_R447X exm2240564 4 154625399 [A/G] NM_003264 TLR2 EXON Missense_R447Q exm429601 4 154625486 [A/T] NM_003264 TLR2 EXON Nonsense_L476X exm429604 4 154625531 [T/C] NM_003264 TLR2 EXON Missense_T491I exm429607 4 154625597 [T/C] NM_003264 TLR2 EXON Missense_T513M exm429619 4 154625726 [T/C] NM_003264 TLR2 EXON Missense_I556T exm429622 4 154625750 [A/G] NM_003264 TLR2 EXON Missense_C564Y exm429623 4 154625771 [A/G] NM_003264 TLR2 EXON Missense_R571H exm429626 4 154625795 [A/G] NM_003264 TLR2 EXON Missense_R579H exm429633 4 154625948 [A/G] NM_003264 TLR2 EXON Missense_K630R exm429634 4 154625951 [A/C] NM_003264 TLR2 EXON Missense_P631H exm429636 4 154625965 [A/C] NM_003264 TLR2 EXON Missense_S636R exm429649 4 154626271 [G/C] NM_003264 TLR2 EXON Missense_E738Q exm429652 4 154626317 [A/G] NM_003264 TLR2 EXON Missense_R753Q exm2067782 4 154626355 [A/G] NM_003264 TLR2 EXON Missense_M766V exm429661 4 154631543 [T/A] NM_173662 RNF175 EXON Missense_I322N exm429662 4 154631550 [T/C] NM_173662 RNF175 EXON Missense_G320S exm429663 4 154631563 [T/C] NM_173662 RNF175 EXON Missense_I315M exm429664 4 154631587 [G/C] NM_173662 RNF175 EXON Missense_L307F exm429667 4 154631634 [A/G] NM_173662 RNF175 EXON Missense_R292C exm429673 4 154633708 [T/C] NM_173662 RNF175 EXON Missense_R262Q exm429676 4 154636689 [A/C] NM_173662 RNF175 EXON Missense_C252W exm429682 4 154636798 [T/C] NM_173662 RNF175 EXON Missense_R216Q exm429685 4 154641371 [T/C] NM_173662 RNF175 EXON Missense_E199K exm429692 4 154644537 [T/C] NM_173662 RNF175 EXON Missense_M159V exm429694 4 154644542 [A/G] NM_173662 RNF175 EXON Missense_A157V exm2067790 4 154649359 [T/C] NM_173662 RNF175 EXON Missense_R134Q exm2275334 4 154649360 [A/G] NM_173662 RNF175 EXON Nonsense_R134X exm429702 4 154669846 [A/G] NM_173662 RNF175 EXON Missense_A66V exm429703 4 154669859 [T/C] NM_173662 RNF175 EXON Missense_V62I exm429707 4 154669901 [A/G] NM_173662 RNF175 EXON Missense_H48Y exm429708 4 154669906 [T/C] NM_173662 RNF175 EXON Missense_R46Q exm-rs17030434 4 154703596 [T/C] NM_003013 SFRP2 Silent exm429738 4 154709854 [A/G] NM_003013 SFRP2 EXON Missense_A45V exm2264071 4 154998232 [A/C] exm2265884 4 155120463 [A/G] exm429754 4 155155797 [A/G] NM_017639 DCHS2 EXON Missense_T2881M exm429764 4 155155914 [A/G] NM_017639 DCHS2 EXON Missense_P2842L exm429773 4 155156179 [G/C] NM_017639 DCHS2 EXON Missense_G2754R exm429775 4 155156212 [T/C] NM_017639 DCHS2 EXON Missense_A2743T exm429784 4 155156322 [T/C] NM_017639 DCHS2 EXON Missense_S2706N exm429797 4 155156542 [A/G] NM_017639 DCHS2 EXON Missense_H2633Y exm429799 4 155156598 [A/G] NM_017639 DCHS2 EXON Missense_P2614L exm429801 4 155156674 [A/G] NM_017639 DCHS2 EXON Missense_R2589W exm429802 4 155156706 [A/G] NM_017639 DCHS2 EXON Missense_T2578I exm429804 4 155156750 [T/A] NM_017639 DCHS2 EXON Missense_R2563S exm429809 4 155156875 [T/G] NM_017639 DCHS2 EXON Missense_N2522H exm429810 4 155156887 [A/T] NM_017639 DCHS2 EXON Missense_T2518S exm429813 4 155157015 [T/C] NM_017639 DCHS2 EXON Missense_K2475R exm429818 4 155157160 [T/G] NM_017639 DCHS2 EXON Missense_Q2427K exm429824 4 155157412 [T/C] NM_017639 DCHS2 EXON Missense_A2343T exm429826 4 155157504 [A/G] NM_017639 DCHS2 EXON Missense_P2312L exm429827 4 155157508 [T/C] NM_017639 DCHS2 EXON Missense_A2311T exm429830 4 155157531 [T/C] NM_017639 DCHS2 EXON Missense_S2303N exm429835 4 155157646 [T/C] NM_017639 DCHS2 EXON Missense_G2265R exm429838 4 155157729 [T/C] NM_017639 DCHS2 EXON Missense_R2237H exm429839 4 155157730 [A/G] NM_017639 DCHS2 EXON Missense_R2237C exm2256419 4 155157812 [A/G] NM_017639 DCHS2 EXON Synonymous_N2209N exm429853 4 155157961 [T/C] NM_017639 DCHS2 EXON Missense_G2160S exm429857 4 155158010 [T/A] NM_017639 DCHS2 EXON Missense_F2143L exm429862 4 155158081 [T/C] NM_017639 DCHS2 EXON Missense_D2120N exm429863 4 155158090 [A/C] NM_017639 DCHS2 EXON Missense_S2117A exm429864 4 155158104 [A/G] NM_017639 DCHS2 EXON Missense_T2112M exm429866 4 155158175 [T/G] NM_017639 DCHS2 EXON Missense_N2088K exm429871 4 155158284 [A/C] NM_017639 DCHS2 EXON Nonsense_L2052X exm429876 4 155160429 [A/G] NM_017639 DCHS2 EXON Missense_V2007A exm429888 4 155163829 [C/G] NM_017639 DCHS2 EXON Missense_A1891G exm429896 4 155176722 [T/C] NM_017639 DCHS2 EXON Missense_G1842D exm429898 4 155176771 [A/T] NM_017639 DCHS2 EXON Missense_I1826F exm429899 4 155176782 [A/T] NM_017639 DCHS2 EXON Missense_I1822N exm429903 4 155180890 [A/T] NM_017639 DCHS2 EXON Missense_E1744V exm429907 4 155191157 [T/C] NM_017639 DCHS2 EXON Missense_I1703V exm429908 4 155191162 [A/G] NM_017639 DCHS2 EXON Missense_T1701I exm429911 4 155219024 [T/C] NM_017639 DCHS2 EXON Missense_V1693M exm429918 4 155219185 [T/C] NM_017639 DCHS2 EXON Missense_Q1639R exm429919 4 155219231 [T/C] NM_017639 DCHS2 EXON Missense_E1624K exm429921 4 155219257 [T/C] NM_017639 DCHS2 EXON Missense_N1615S exm429922 4 155219276 [T/C] NM_017639 DCHS2 EXON Missense_D1609N exm429923 4 155219281 [A/G] NM_017639 DCHS2 EXON Missense_A1607V exm429931 4 155219338 [A/G] NM_017639 DCHS2 EXON Missense_F1588S exm429938 4 155219465 [A/G] NM_017639 DCHS2 EXON Missense_S1546P exm429939 4 155219467 [T/C] NM_017639 DCHS2 EXON Missense_R1545K exm429941 4 155219513 [T/C] NM_017639 DCHS2 EXON Missense_M1530V exm429943 4 155219540 [A/C] NM_017639 DCHS2 EXON Missense_A1521S exm429944 4 155219549 [T/G] NM_017639 DCHS2 EXON Missense_T1518P exm429949 4 155219662 [C/G] NM_017639 DCHS2 EXON Missense_T1480R exm429950 4 155219720 [T/C] NM_017639 DCHS2 EXON Missense_V1461I exm429953 4 155219788 [A/C] NM_017639 DCHS2 EXON Missense_R1438L exm429954 4 155219789 [A/G] NM_017639 DCHS2 EXON Missense_R1438W exm2067875 4 155219852 [T/A] NM_017639 DCHS2 EXON Missense_T1417S exm429964 4 155225826 [A/G] NM_017639 DCHS2 EXON Missense_I1412T exm429965 4 155225839 [T/C] NM_017639 DCHS2 EXON Missense_V1408I exm429973 4 155225953 [T/G] NM_017639 DCHS2 EXON Missense_H1370N exm429975 4 155226021 [T/C] NM_017639 DCHS2 EXON Missense_R1347Q exm429976 4 155226252 [A/G] NM_017639 DCHS2 EXON Nonsense_R1343X exm429990 4 155241572 [A/G] NM_017639 DCHS2 EXON Missense_S1205L exm429993 4 155241674 [A/G] NM_017639 DCHS2 EXON Missense_A1171V exm429995 4 155241735 [T/C] NM_017639 DCHS2 EXON Missense_A1151T exm429996 4 155241740 [A/G] NM_017639 DCHS2 EXON Missense_L1149P exm430008 4 155242011 [A/G] NM_017639 DCHS2 EXON Missense_L1059F exm430027 4 155243574 [A/G] NM_017639 DCHS2 EXON Missense_S907L exm430029 4 155243604 [T/C] NM_017639 DCHS2 EXON Missense_N897S exm430036 4 155244475 [T/G] NM_017639,NM_001142552 DCHS2,DCHS2 EXON Silent,Missense_P1342H exm430039 4 155249289 [A/G] NM_017639,NM_001142552 DCHS2,DCHS2 EXON Missense_P870L,Missense_P1325L exm430040 4 155249299 [G/C] NM_017639,NM_001142552 DCHS2,DCHS2 EXON Missense_A867P,Missense_A1322P exm430044 4 155249343 [A/C] NM_017639,NM_001142552 DCHS2,DCHS2 EXON Missense_V852G,Missense_V1307G exm430048 4 155250701 [G/C] NM_017639,NM_001142552 DCHS2,DCHS2 EXON Missense_L843V,Missense_L1298V exm430052 4 155250749 [T/C] NM_017639,NM_001142552 DCHS2,DCHS2 EXON Missense_V827I,Missense_V1282I exm430058 4 155252797 [A/G] NM_017639,NM_001142552 DCHS2,DCHS2 EXON Missense_A768V,Silent exm2067913 4 155253645 [T/C] NM_017639,NM_001142552 DCHS2,DCHS2 EXON Missense_M740V,Missense_M1239V exm430065 4 155253754 [G/C] NM_017639,NM_001142552 DCHS2,DCHS2 EXON Missense_E703D,Missense_E1202D exm430071 4 155253964 [T/C] NM_017639,NM_001142552 DCHS2,DCHS2 EXON Missense_M633I,Missense_M1132I exm430074 4 155254051 [T/C] NM_017639,NM_001142552 DCHS2,DCHS2 EXON Missense_M604I,Missense_M1103I exm430078 4 155254146 [A/C] NM_017639,NM_001142552 DCHS2,DCHS2 EXON Missense_V573F,Missense_V1072F exm430091 4 155254355 [A/C] NM_017639,NM_001142552 DCHS2,DCHS2 EXON Missense_R503L,Missense_R1002L exm430096 4 155254428 [T/C] NM_017639,NM_001142552 DCHS2,DCHS2 EXON Missense_A479T,Missense_A978T exm430103 4 155254512 [A/C] NM_017639,NM_001142552 DCHS2,DCHS2 EXON Missense_V451L,Missense_V950L exm430105 4 155254523 [A/G] NM_017639,NM_001142552 DCHS2,DCHS2 EXON Missense_V447A,Missense_V946A exm430107 4 155254540 [G/C] NM_017639,NM_001142552 DCHS2,DCHS2 EXON Missense_H441Q,Missense_H940Q exm2240576 4 155254589 [A/G] NM_017639,NM_001142552 DCHS2,DCHS2 EXON Missense_S425F,Missense_S924F exm430114 4 155256049 [A/G] NM_017639,NM_001142552 DCHS2,DCHS2 EXON Missense_I396T,Missense_I895T exm430117 4 155256125 [T/C] NM_017639,NM_001142552 DCHS2,DCHS2 EXON Missense_T371A,Missense_T870A exm2256422 4 155256183 [A/G] NM_017639,NM_001142552 DCHS2,DCHS2 EXON Synonymous_D351D,Synonymous_D850D exm430121 4 155256205 [A/G] NM_017639,NM_001142552 DCHS2,DCHS2 EXON Missense_S344L,Missense_S843L exm430125 4 155256251 [T/C] NM_017639,NM_001142552 DCHS2,DCHS2 EXON Missense_I329V,Missense_I828V exm430155 4 155287535 [T/C] NM_017639,NM_001142552 DCHS2,DCHS2 EXON Missense_H174R,Missense_H768R exm430156 4 155287548 [T/C] NM_017639,NM_001142552 DCHS2,DCHS2 EXON Missense_V170M,Missense_V764M exm430160 4 155295076 [A/G] NM_017639,NM_001142552 DCHS2,DCHS2 EXON Missense_V153A,Silent exm430161 4 155295088 [T/C] NM_017639,NM_001142552 DCHS2,DCHS2 EXON Missense_H149R,Silent exm430164 4 155298424 [A/G] NM_017639,NM_001142552 DCHS2,DCHS2 EXON Missense_L136P,Missense_L742P exm2240577 4 155298502 [T/C] NM_017639,NM_001142552 DCHS2,DCHS2 EXON Missense_R110Q,Missense_R716Q exm430168 4 155298503 [A/G] NM_017639,NM_001142552 DCHS2,DCHS2 EXON Missense_R110W,Missense_R716W exm430170 4 155298536 [T/C] NM_017639,NM_001142552 DCHS2,DCHS2 EXON Missense_G99R,Missense_G705R exm-rs12651106 4 155301059 [A/C] NM_017639,NM_001142552 DCHS2,DCHS2 Silent,Silent exm430177 4 155305572 [A/G] NM_017639,NM_001142552 DCHS2,DCHS2 EXON Missense_A61V,Silent exm2256423 4 155312411 [A/G] NM_017639,NM_001142552 DCHS2,DCHS2 EXON Synonymous_D13D,Silent exm430188 4 155312416 [T/C] NM_017639,NM_001142552 DCHS2,DCHS2 EXON Missense_E12K,Silent exm430189 4 155407595 [A/C] NM_001142552,NM_001142553 DCHS2,DCHS2 EXON Silent,Missense_X710Y exm430196 4 155410650 [T/C] NM_001142552,NM_001142553 DCHS2,DCHS2 EXON Missense_T620A,Missense_T620A exm430197 4 155410667 [A/G] NM_001142552,NM_001142553 DCHS2,DCHS2 EXON Missense_A614V,Missense_A614V exm430206 4 155410926 [A/G] NM_001142552,NM_001142553 DCHS2,DCHS2 EXON Missense_R528W,Missense_R528W exm430211 4 155411234 [A/C] NM_001142552,NM_001142553 DCHS2,DCHS2 EXON Missense_R425L,Missense_R425L exm430221 4 155411858 [T/G] NM_001142552,NM_001142553 DCHS2,DCHS2 EXON Missense_A217E,Missense_A217E exm430223 4 155411883 [A/G] NM_001142552,NM_001142553 DCHS2,DCHS2 EXON Missense_P209S,Missense_P209S exm430224 4 155411939 [A/C] NM_001142552,NM_001142553 DCHS2,DCHS2 EXON Missense_V190G,Missense_V190G exm430225 4 155411948 [A/C] NM_001142552,NM_001142553 DCHS2,DCHS2 EXON Missense_R187L,Missense_R187L exm430232 4 155412141 [A/C] NM_001142552,NM_001142553 DCHS2,DCHS2 EXON Missense_G123C,Missense_G123C exm430235 4 155412444 [A/G] NM_001142552,NM_001142553 DCHS2,DCHS2 EXON Missense_L22F,Missense_L22F exm430237 4 155412464 [T/C] NM_001142552,NM_001142553 DCHS2,DCHS2 EXON Missense_R15Q,Missense_R15Q exm-rs12511469 4 155451759 [A/T] exm430243 4 155458569 [T/C] NM_001201564,NM_002669 PLRG1,PLRG1 EXON Missense_A443T,Missense_A452T exm430247 4 155458612 [T/A] NM_001201564,NM_002669 PLRG1,PLRG1 EXON Missense_H428Q,Missense_H437Q exm430257 4 155461175 [A/G] NM_001201564,NM_002669 PLRG1,PLRG1 EXON Missense_H315Y,Missense_H324Y exm430270 4 155465644 [C/G] NM_001201564,NM_002669 PLRG1,PLRG1 EXON Missense_P174A,Missense_P183A exm430281 4 155467330 [T/G] NM_001201564,NM_002669 PLRG1,PLRG1 EXON Missense_M108L,Missense_M117L exm430290 4 155468902 [T/A] NM_001201564,NM_002669 PLRG1,PLRG1 EXON Missense_T74S,Missense_T74S exm-rs1800789 4 155482743 [A/G] exm-rs1800788 4 155483914 [T/C] exm430300 4 155484174 [A/G] NM_001184741,NM_005141 FGB,FGB EXON Missense_K2E,Missense_K2E exm430313 4 155487143 [T/C] NM_001184741,NM_005141 FGB,FGB EXON Silent,Missense_P100S exm430316 4 155487644 [A/G] NM_001184741,NM_005141 FGB,FGB EXON Silent,Missense_V104M exm430320 4 155487701 [A/G] NM_001184741,NM_005141 FGB,FGB EXON Missense_I64V,Missense_I123V exm430322 4 155487810 [T/A] NM_001184741,NM_005141 FGB,FGB EXON Missense_Q100L,Missense_Q159L exm430329 4 155488788 [C/G] NM_001184741,NM_005141 FGB,FGB EXON Missense_K119N,Missense_K178N exm-rs6056 4 155488821 [T/C] NM_001184741,NM_005141 FGB,FGB EXON Synonymous_S130S,Synonymous_S189S exm430337 4 155488936 [A/G] NM_001184741,NM_005141 FGB,FGB EXON Missense_T169A,Missense_T228A exm430340 4 155489608 [T/C] NM_001184741,NM_005141 FGB,FGB EXON Missense_P206L,Missense_P265L exm430347 4 155490434 [T/G] NM_001184741,NM_005141 FGB,FGB EXON Missense_D252E,Missense_D311E exm430371 4 155491759 [A/G] NM_001184741,NM_005141 FGB,FGB EXON Missense_R419K,Missense_R478K exm430382 4 155505592 [A/G] NM_000508 FGA EXON Missense_A762V exm430386 4 155505692 [G/C] NM_000508 FGA EXON Missense_E729Q exm2256424 4 155507039 [A/G] NM_000508,NM_021871 FGA,FGA EXON Synonymous_P514P,Synonymous_P514P exm430410 4 155507137 [T/C] NM_000508,NM_021871 FGA,FGA EXON Missense_V482M,Missense_V482M exm430411 4 155507164 [T/C] NM_000508,NM_021871 FGA,FGA EXON Missense_D473N,Missense_D473N exm430414 4 155507215 [T/C] NM_000508,NM_021871 FGA,FGA EXON Missense_T456A,Missense_T456A exm2068025 4 155507382 [A/G] NM_000508,NM_021871 FGA,FGA EXON Missense_S400F,Missense_S400F exm430466 4 155510046 [A/T] NM_000508,NM_021871 FGA,FGA EXON Missense_L88H,Missense_L88H exm430467 4 155510065 [T/G] NM_000508,NM_021871 FGA,FGA EXON Missense_T82P,Missense_T82P exm430473 4 155511824 [T/C] NM_000508,NM_021871 FGA,FGA EXON Missense_I6V,Missense_I6V exm430477 4 155511897 [T/C] NM_000508,NM_021871 FGA,FGA EXON Silent,Silent exm-rs13109457 4 155514879 [A/G] exm430488 4 155526029 [A/G] NM_000509,NM_021870 FGG,FGG EXON Silent,Missense_A440V exm430494 4 155527887 [T/C] NM_000509,NM_021870 FGG,FGG EXON Missense_A367T,Missense_A367T exm430498 4 155528064 [T/C] NM_000509,NM_021870 FGG,FGG EXON Missense_A308T,Missense_A308T exm430504 4 155529735 [A/G] NM_000509,NM_021870 FGG,FGG EXON Missense_S245F,Missense_S245F exm430510 4 155530877 [T/C] NM_000509,NM_021870 FGG,FGG EXON Missense_G191R,Missense_G191R exm430518 4 155531333 [A/G] NM_000509,NM_021870 FGG,FGG EXON Missense_Y140H,Missense_Y140H exm430521 4 155533035 [C/G] NM_000509,NM_021870 FGG,FGG EXON Missense_A108G,Missense_A108G exm430527 4 155533288 [C/G] NM_000509,NM_021870 FGG,FGG EXON Missense_D63E,Missense_D63E exm430529 4 155533337 [A/G] NM_000509,NM_021870 FGG,FGG EXON Missense_T47I,Missense_T47I exm430530 4 155533353 [T/C] NM_000509,NM_021870 FGG,FGG EXON Missense_G42S,Missense_G42S exm-rs7681423 4 155542248 [T/C] exm-rs727153 4 155654421 [T/C] exm430545 4 155665552 [T/A] NM_004744 LRAT EXON Missense_F25Y exm430555 4 155665876 [A/C] NM_004744 LRAT EXON Missense_K133T exm430556 4 155665881 [T/G] NM_004744 LRAT EXON Missense_A135S exm430562 4 155670206 [T/C] NM_004744 LRAT EXON Missense_A204V exm430578 4 155719189 [T/G] NM_144979 RBM46 EXON Missense_I126M exm430581 4 155719287 [A/G] NM_144979 RBM46 EXON Missense_D159G exm430602 4 155720372 [A/G] NM_144979 RBM46 EXON Missense_R353H exm430603 4 155720399 [T/C] NM_144979 RBM46 EXON Missense_P362L exm430608 4 155720617 [A/G] NM_144979 RBM46 EXON Missense_I435V exm430618 4 155749077 [T/C] NM_144979 RBM46 EXON Missense_S487F exm430620 4 155749134 [A/G] NM_144979 RBM46 EXON Missense_Y506C exm430621 4 155749205 [T/G] NM_144979 RBM46 EXON Missense_A530S exm430623 4 155749212 [T/C] NM_144979 RBM46 EXON Missense_F532S exm2265779 4 155804083 [A/G] exm2068120 4 156135155 [T/C] NM_000910 NPY2R EXON Missense_Y22H exm430637 4 156135350 [T/A] NM_000910 NPY2R EXON Missense_F87I exm2068123 4 156135605 [A/G] NM_000910 NPY2R EXON Missense_A172T exm430648 4 156135621 [T/C] NM_000910 NPY2R EXON Missense_A177V exm430670 4 156136125 [A/G] NM_000910 NPY2R EXON Missense_R345Q exm430672 4 156136138 [T/G] NM_000910 NPY2R EXON Missense_I349M exm430674 4 156136154 [A/G] NM_000910 NPY2R EXON Missense_V355M exm430685 4 156269027 [A/G] NM_001039580 MAP9 EXON Nonsense_R618X exm430688 4 156273768 [T/C] NM_001039580 MAP9 EXON Missense_N601D exm430691 4 156274109 [G/C] NM_001039580 MAP9 EXON Missense_T548S exm430693 4 156274377 [T/C] NM_001039580 MAP9 EXON Missense_K499R exm430704 4 156276986 [A/G] NM_001039580 MAP9 EXON Missense_P391L exm2068153 4 156277017 [A/G] NM_001039580 MAP9 EXON Synonymous_L381L exm430707 4 156278635 [A/G] NM_001039580 MAP9 EXON Missense_S363P exm430711 4 156281375 [A/G] NM_001039580 MAP9 EXON Missense_L332P exm430718 4 156281490 [T/G] NM_001039580 MAP9 EXON Missense_H294N exm430720 4 156283212 [T/C] NM_001039580 MAP9 EXON Missense_A264T exm430727 4 156283281 [T/C] NM_001039580 MAP9 EXON Missense_T241A exm430731 4 156289765 [T/A] NM_001039580 MAP9 EXON Missense_K227N exm2068164 4 156289784 [T/C] NM_001039580 MAP9 EXON Missense_Q221R exm430732 4 156289787 [A/G] NM_001039580 MAP9 EXON Missense_I220T exm430734 4 156289803 [T/G] NM_001039580 MAP9 EXON Missense_P215T exm430740 4 156289917 [A/G] NM_001039580 MAP9 EXON Missense_R177W exm430747 4 156294333 [T/C] NM_001039580 MAP9 EXON Missense_M146V exm430748 4 156294338 [A/T] NM_001039580 MAP9 EXON Missense_I144K exm430749 4 156294339 [T/C] NM_001039580 MAP9 EXON Missense_I144V exm430759 4 156294480 [A/G] NM_001039580 MAP9 EXON Missense_S97P exm430763 4 156294610 [T/G] NM_001039580 MAP9 Silent exm430766 4 156296155 [T/C] NM_001039580 MAP9 EXON Missense_I32V exm430772 4 156296996 [C/G] NM_001039580 MAP9 EXON Missense_D3H exm2264103 4 156299620 [A/C] exm2256426 4 156380807 [T/G] exm-rs7677803 4 156409087 [A/G] exm430781 4 156618092 [A/G] NM_000856,NM_001130687,NM_001130682,NM_001256449,NM_001130685,NM_001130683,NM_001130684 GUCY1A3,GUCY1A3,GUCY1A3,GUCY1A3,GUCY1A3,GUCY1A3,GUCY1A3 EXON Missense_V25I,Missense_V25I,Missense_V25I,Missense_V25I,Silent,Missense_V25I,Missense_V25I exm430785 4 156618176 [A/G] NM_000856,NM_001130687,NM_001130682,NM_001256449,NM_001130685,NM_001130683,NM_001130684 GUCY1A3,GUCY1A3,GUCY1A3,GUCY1A3,GUCY1A3,GUCY1A3,GUCY1A3 EXON Missense_K53E,Missense_K53E,Missense_K53E,Missense_K53E,Silent,Missense_K53E,Missense_K53E exm430786 4 156618189 [A/C] NM_000856,NM_001130687,NM_001130682,NM_001256449,NM_001130685,NM_001130683,NM_001130684 GUCY1A3,GUCY1A3,GUCY1A3,GUCY1A3,GUCY1A3,GUCY1A3,GUCY1A3 EXON Missense_E57A,Missense_E57A,Missense_E57A,Missense_E57A,Silent,Missense_E57A,Missense_E57A exm430806 4 156631711 [A/G] NM_000856,NM_001130687,NM_001130682,NM_001256449,NM_001130685,NM_001130683,NM_001130684 GUCY1A3,GUCY1A3,GUCY1A3,GUCY1A3,GUCY1A3,GUCY1A3,GUCY1A3 EXON Missense_I132V,Missense_I132V,Missense_I132V,Missense_I132V,Silent,Missense_I132V,Missense_I132V exm-rs7692387 4 156635309 [A/G] NM_000856,NM_001130687,NM_001130682,NM_001256449,NM_001130685,NM_001130683,NM_001130684 GUCY1A3,GUCY1A3,GUCY1A3,GUCY1A3,GUCY1A3,GUCY1A3,GUCY1A3 Silent,Silent,Silent,Silent,Silent,Silent,Silent exm430874 4 156643302 [A/G] NM_000856,NM_001130687,NM_001130682,NM_001256449,NM_001130685,NM_001130683,NM_001130684 GUCY1A3,GUCY1A3,GUCY1A3,GUCY1A3,GUCY1A3,GUCY1A3,GUCY1A3 EXON Missense_C610Y,Missense_C610Y,Missense_C610Y,Missense_C610Y,Missense_C375Y,Missense_C610Y,Missense_C610Y exm430881 4 156651207 [A/G] NM_000856,NM_001130682,NM_001256449,NM_001130685,NM_001130683,NM_001130684 GUCY1A3,GUCY1A3,GUCY1A3,GUCY1A3,GUCY1A3,GUCY1A3 EXON Missense_V633M,Missense_V633M,Missense_V633M,Missense_V398M,Missense_V633M,Missense_V633M exm430886 4 156651274 [A/G] NM_000856,NM_001130682,NM_001256449,NM_001130685,NM_001130683,NM_001130684 GUCY1A3,GUCY1A3,GUCY1A3,GUCY1A3,GUCY1A3,GUCY1A3 EXON Missense_H655R,Missense_H655R,Missense_H655R,Missense_H420R,Missense_H655R,Missense_H655R exm2240596 4 156651348 [A/G] NM_000856,NM_001130682,NM_001256449,NM_001130685,NM_001130683,NM_001130684 GUCY1A3,GUCY1A3,GUCY1A3,GUCY1A3,GUCY1A3,GUCY1A3 EXON Missense_A680T,Missense_A680T,Missense_A680T,Missense_A445T,Missense_A680T,Missense_A680T exm430901 4 156698677 [A/T] NM_000857 GUCY1B3 EXON Missense_N60K exm430925 4 156721226 [T/C] NM_000857 GUCY1B3 EXON Missense_T392I exm430935 4 156724843 [A/G] NM_000857 GUCY1B3 EXON Missense_R494Q exm430951 4 156751055 [G/C] NM_017419 ASIC5 EXON Missense_P491A exm430952 4 156751082 [T/C] NM_017419 ASIC5 EXON Missense_I482V exm430955 4 156751129 [T/C] NM_017419 ASIC5 EXON Missense_Y466C exm430958 4 156752977 [A/G] NM_017419 ASIC5 EXON Synonymous_L442L exm430961 4 156752999 [A/G] NM_017419 ASIC5 EXON Missense_A435V exm430962 4 156753017 [A/T] NM_017419 ASIC5 EXON Missense_I429K exm430984 4 156763434 [A/T] NM_017419 ASIC5 EXON Missense_T312S exm430990 4 156764844 [A/G] NM_017419 ASIC5 EXON Missense_R284C exm430995 4 156764904 [T/G] NM_017419 ASIC5 EXON Missense_P264T exm430997 4 156764932 [C/G] NM_017419 ASIC5 EXON Missense_I254M exm430999 4 156764954 [T/C] NM_017419 ASIC5 EXON Missense_G247D exm431009 4 156773446 [T/G] NM_017419 ASIC5 EXON Missense_E203A exm2068302 4 156775452 [A/G] NM_017419 ASIC5 EXON Missense_A121V exm431021 4 156784660 [A/G] NM_017419 ASIC5 EXON Missense_I96T exm431023 4 156784667 [T/C] NM_017419 ASIC5 EXON Missense_T94A exm431027 4 156784699 [T/C] NM_017419 ASIC5 EXON Missense_R83H exm431029 4 156784709 [A/T] NM_017419 ASIC5 EXON Missense_I80F exm431031 4 156784765 [T/C] NM_017419 ASIC5 EXON Missense_R61H exm431034 4 156784847 [A/G] NM_017419 ASIC5 EXON Nonsense_R34X exm431038 4 156784882 [A/C] NM_017419 ASIC5 EXON Missense_C22F exm431042 4 156787340 [A/G] NM_017419 ASIC5 EXON Synonymous_N13N exm431043 4 156787368 [A/G] NM_017419 ASIC5 EXON Missense_T4I exm431044 4 156787369 [T/C] NM_017419 ASIC5 EXON Missense_T4A exm431050 4 156824932 [T/G] NM_005651 TDO2 EXON Nonsense_G8X exm431055 4 156825203 [A/C] NM_005651 TDO2 EXON Missense_S23R exm2240598 4 156828921 [T/C] NM_005651 TDO2 EXON Nonsense_R94X exm431069 4 156830090 [T/C] NM_005651 TDO2 EXON Missense_S119P exm431073 4 156831299 [A/G] NM_005651 TDO2 EXON Missense_K185R exm431074 4 156831302 [A/G] NM_005651 TDO2 EXON Missense_G186E exm431077 4 156832715 [A/C] NM_005651 TDO2 EXON Missense_N229H exm431094 4 156838597 [A/C] NM_005651 TDO2 EXON Missense_D316A exm431096 4 156839348 [A/G] NM_005651 TDO2 EXON Missense_T342A exm431097 4 156839352 [A/G] NM_005651 TDO2 EXON Missense_G343D exm431103 4 156841062 [T/A] NM_005651 TDO2 EXON Missense_M381L exm2068330 4 156847222 [T/C] NM_001334 CTSO EXON Missense_G311D exm431119 4 156850822 [A/G] NM_001334 CTSO EXON Missense_T237I exm431137 4 156863469 [T/C] NM_001334 CTSO EXON Missense_M128I exm431143 4 156863571 [A/T] NM_001334 CTSO EXON Missense_R94S exm431146 4 156864359 [T/C] NM_001334 CTSO EXON Missense_A65T exm-rs4234898 4 156998541 [T/C] exm2264072 4 157030680 [A/C] exm2261640 4 157050382 [A/C] exm2256428 4 157344783 [T/G] exm431168 4 157694009 [C/G] NR_036641,NM_016205 PDGFC,PDGFC EXON Silent,Missense_P178A exm-rs4691380 4 157720124 [T/C] NR_036641,NM_016205 PDGFC,PDGFC Silent,Silent exm-rs6822892 4 157734675 [A/G] NR_036641,NM_016205 PDGFC,PDGFC Silent,Silent exm2265780 4 157884105 [A/G] NR_036641,NM_016205 PDGFC,PDGFC Silent,Silent exm431177 4 157891943 [T/C] NR_036641,NM_016205 PDGFC,PDGFC EXON Silent,Missense_Q38R exm431179 4 157891963 [A/C] NR_036641,NM_016205 PDGFC,PDGFC EXON Silent,Missense_Q31H exm2265885 4 157931688 [A/G] exm431188 4 157999268 [A/G] NM_000824,NM_001166061,NM_001166060 GLRB,GLRB,GLRB EXON Missense_K31R,Missense_K31R,Missense_K31R exm431191 4 157999297 [T/C] NM_000824,NM_001166061,NM_001166060 GLRB,GLRB,GLRB EXON Missense_S41P,Missense_S41P,Missense_S41P exm2256430 4 158057746 [T/C] NM_000824,NM_001166061,NM_001166060 GLRB,GLRB,GLRB EXON Synonymous_P141P,Synonymous_P141P,Synonymous_P141P exm431245 4 158074098 [A/G] NM_000824,NM_001166061,NM_001166060 GLRB,GLRB,GLRB EXON Missense_G378E,Silent,Missense_G378E exm2068411 4 158091771 [G/C] NM_000824,NM_001166061,NM_001166060 GLRB,GLRB,GLRB EXON Missense_A462G,Silent,Missense_A462G exm431260 4 158142820 [T/G] NM_001083619,NM_000826,NM_001083620 GRIA2,GRIA2,GRIA2 EXON Synonymous_G30G,Synonymous_G30G,Silent exm431266 4 158224705 [T/C] NM_001083619,NM_000826,NM_001083620 GRIA2,GRIA2,GRIA2 EXON Synonymous_F77F,Synonymous_F77F,Synonymous_F30F exm431270 4 158224808 [A/G] NM_001083619,NM_000826,NM_001083620 GRIA2,GRIA2,GRIA2 EXON Missense_I112V,Missense_I112V,Missense_I65V exm431272 4 158224858 [A/G] NM_001083619,NM_000826,NM_001083620 GRIA2,GRIA2,GRIA2 EXON Missense_M128I,Missense_M128I,Missense_M81I exm431287 4 158238831 [A/G] NM_001083619,NM_000826,NM_001083620 GRIA2,GRIA2,GRIA2 EXON Missense_V230I,Missense_V230I,Missense_V183I exm431293 4 158242671 [T/G] NM_001083619,NM_000826,NM_001083620 GRIA2,GRIA2,GRIA2 EXON Missense_S268A,Missense_S268A,Missense_S221A exm431303 4 158254056 [A/G] NM_001083619,NM_000826,NM_001083620 GRIA2,GRIA2,GRIA2 EXON Missense_R323Q,Missense_R323Q,Missense_R276Q exm431305 4 158254473 [A/G] NM_001083619,NM_000826,NM_001083620 GRIA2,GRIA2,GRIA2 EXON Missense_I375V,Missense_I375V,Missense_I328V exm431315 4 158257778 [C/G] NM_001083619,NM_000826,NM_001083620 GRIA2,GRIA2,GRIA2 EXON Missense_E575Q,Missense_E575Q,Missense_E528Q exm2265781 4 158390203 [A/G] exm2265886 4 158620303 [A/G] exm2269870 4 158932876 [T/G] exm2068469 4 159048596 [T/C] NM_016613,NM_001128424,NM_001031700 FAM198B,FAM198B,FAM198B EXON Missense_N508S,Missense_N508S,Missense_N516S exm431349 4 159048692 [T/C] NM_016613,NM_001128424,NM_001031700 FAM198B,FAM198B,FAM198B EXON Missense_D476G,Missense_D476G,Missense_D484G exm431360 4 159052059 [T/C] NM_016613,NM_001128424,NM_001031700 FAM198B,FAM198B,FAM198B EXON Missense_A411T,Missense_A411T,Missense_A419T exm431365 4 159052122 [A/G] NM_016613,NM_001128424,NM_001031700 FAM198B,FAM198B,FAM198B EXON Missense_R390C,Missense_R390C,Missense_R398C exm431366 4 159076806 [T/C] NM_016613,NM_001128424,NM_001031700 FAM198B,FAM198B,FAM198B EXON Missense_H361R,Missense_H361R,Missense_H369R exm431368 4 159076944 [A/G] NM_016613,NM_001128424,NM_001031700 FAM198B,FAM198B,FAM198B EXON Missense_A315V,Missense_A315V,Silent exm431370 4 159076972 [A/G] NM_016613,NM_001128424,NM_001031700 FAM198B,FAM198B,FAM198B EXON Missense_R306C,Missense_R306C,Silent exm431374 4 159091422 [A/T] NM_016613,NM_001128424,NM_001031700 FAM198B,FAM198B,FAM198B EXON Silent,Silent,Nonsense_K330X exm431375 4 159091424 [C/G] NM_016613,NM_001128424,NM_001031700 FAM198B,FAM198B,FAM198B EXON Silent,Silent,Missense_G329A exm2275776 4 159091777 [A/C] NM_016613,NM_001128424,NM_001031700 FAM198B,FAM198B,FAM198B EXON Missense_G251W,Missense_G251W,Missense_G251W exm431385 4 159091827 [T/C] NM_016613,NM_001128424,NM_001031700 FAM198B,FAM198B,FAM198B EXON Missense_G234E,Missense_G234E,Missense_G234E exm431386 4 159091828 [T/C] NM_016613,NM_001128424,NM_001031700 FAM198B,FAM198B,FAM198B EXON Missense_G234R,Missense_G234R,Missense_G234R exm431392 4 159091864 [A/G] NM_016613,NM_001128424,NM_001031700 FAM198B,FAM198B,FAM198B EXON Nonsense_R222X,Nonsense_R222X,Nonsense_R222X exm431396 4 159091971 [A/G] NM_016613,NM_001128424,NM_001031700 FAM198B,FAM198B,FAM198B EXON Missense_P186L,Missense_P186L,Missense_P186L exm431398 4 159092014 [C/G] NM_016613,NM_001128424,NM_001031700 FAM198B,FAM198B,FAM198B EXON Missense_L172V,Missense_L172V,Missense_L172V exm431399 4 159092022 [T/C] NM_016613,NM_001128424,NM_001031700 FAM198B,FAM198B,FAM198B EXON Missense_G169E,Missense_G169E,Missense_G169E exm431401 4 159092043 [A/G] NM_016613,NM_001128424,NM_001031700 FAM198B,FAM198B,FAM198B EXON Missense_V162A,Missense_V162A,Missense_V162A exm431403 4 159092106 [T/C] NM_016613,NM_001128424,NM_001031700 FAM198B,FAM198B,FAM198B EXON Missense_G141E,Missense_G141E,Missense_G141E exm431423 4 159092523 [A/G] NM_016613,NM_001128424,NM_001031700 FAM198B,FAM198B,FAM198B EXON Missense_T2I,Missense_T2I,Missense_T2I exm431433 4 159136405 [A/G] NM_018342 TMEM144 EXON Missense_I58V exm431444 4 159140503 [T/C] NM_018342 TMEM144 EXON Missense_P125L exm431445 4 159140518 [T/C] NM_018342 TMEM144 EXON Missense_I130T exm431447 4 159154076 [A/G] NM_018342 TMEM144 EXON Missense_K146R exm431449 4 159154109 [A/G] NM_018342 TMEM144 EXON Missense_D157G exm431453 4 159156631 [A/T] NM_018342 TMEM144 EXON Missense_K179N exm431459 4 159158677 [A/G] NM_018342 TMEM144 EXON Synonymous_V188V exm431463 4 159158784 [A/C] NM_018342 TMEM144 EXON Missense_A224E exm431468 4 159161483 [T/A] NM_018342 TMEM144 EXON Missense_I239F exm431470 4 159161493 [T/C] NM_018342 TMEM144 EXON Missense_T242I exm431477 4 159162759 [A/G] NM_018342 TMEM144 Silent exm431490 4 159493951 [A/G] NR_045584,NR_045581,NM_021634,NR_045583,NR_045579,NM_001253733,NM_001253729,NM_001253732,NM_001253728,NM_001253730,NR_045582,NM_001253727,NR_045580 RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1 EXON Silent,Silent,Missense_D51N,Silent,Silent,Silent,Missense_D51N,Silent,Missense_D51N,Silent,Silent,Missense_D51N,Silent exm431505 4 159533354 [G/C] NR_045584,NR_045581,NM_021634,NR_045583,NR_045579,NM_001253733,NM_001253729,NM_001253732,NM_001253728,NM_001253730,NR_045582,NM_001253727,NR_045580 RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm431509 4 159538299 [A/G] NR_045584,NR_045581,NM_021634,NR_045583,NR_045579,NM_001253733,NM_001253729,NM_001253732,NM_001253728,NM_001253730,NR_045582,NM_001253727,NR_045580 RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1 EXON Silent,Silent,Missense_V233I,Silent,Silent,Missense_V101I,Missense_V233I,Missense_V101I,Missense_V200I,Missense_V103I,Silent,Missense_V260I,Silent exm2068540 4 159538340 [A/G] NR_045584,NR_045581,NM_021634,NR_045583,NR_045579,NM_001253733,NM_001253729,NM_001253732,NM_001253728,NM_001253730,NR_045582,NM_001253727,NR_045580 RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1 EXON Silent,Silent,Missense_M246I,Silent,Silent,Missense_M114I,Missense_M246I,Missense_M114I,Missense_M213I,Missense_M116I,Silent,Missense_M273I,Silent exm2269981 4 159544076 [T/G] NR_045584,NR_045581,NM_021634,NR_045583,NR_045579,NM_001253733,NM_001253729,NM_001253732,NM_001253728,NM_001253730,NR_045582,NM_001253727,NR_045580 RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm2068543 4 159549831 [T/C] NR_045584,NR_045581,NM_021634,NR_045583,NR_045579,NM_001253733,NM_001253729,NM_001253732,NM_001253728,NM_001253730,NR_045582,NM_001253727,NR_045580 RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1 EXON Silent,Silent,Missense_T290I,Silent,Silent,Missense_T134I,Missense_T290I,Missense_T158I,Missense_T257I,Missense_T160I,Silent,Missense_T317I,Silent exm431520 4 159554592 [T/C] NR_045584,NR_045581,NM_021634,NR_045583,NR_045579,NM_001253733,NM_001253729,NM_001253732,NM_001253728,NM_001253730,NR_045582,NM_001253727,NR_045580 RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1 EXON Silent,Silent,Missense_P312L,Silent,Silent,Missense_P156L,Silent,Missense_P180L,Missense_P279L,Missense_P182L,Silent,Missense_P339L,Silent exm431529 4 159566233 [T/C] NR_045584,NR_045581,NM_021634,NR_045583,NR_045579,NM_001253733,NM_001253729,NM_001253732,NM_001253728,NM_001253730,NR_045582,NM_001253727,NR_045580 RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1 EXON Silent,Silent,Nonsense_R430X,Silent,Silent,Nonsense_R274X,Nonsense_R382X,Nonsense_R298X,Nonsense_R397X,Nonsense_R299X,Silent,Nonsense_R457X,Silent exm431530 4 159566240 [T/A] NR_045584,NR_045581,NM_021634,NR_045583,NR_045579,NM_001253733,NM_001253729,NM_001253732,NM_001253728,NM_001253730,NR_045582,NM_001253727,NR_045580 RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1 EXON Silent,Silent,Missense_Y432F,Silent,Silent,Missense_Y276F,Missense_Y384F,Missense_Y300F,Missense_Y399F,Missense_Y301F,Silent,Missense_Y459F,Silent exm431534 4 159567975 [A/G] NR_045581,NM_021634,NR_045583,NR_045579,NM_001253733,NM_001253729,NM_001253732,NM_001253728,NM_001253730,NR_045582,NM_001253727,NR_045580 RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1 EXON Silent,Missense_V460M,Silent,Silent,Missense_V304M,Missense_V412M,Missense_V328M,Missense_V427M,Missense_V329M,Silent,Missense_V487M,Silent exm431535 4 159568003 [A/G] NR_045581,NM_021634,NR_045583,NR_045579,NM_001253733,NM_001253729,NM_001253732,NM_001253728,NM_001253730,NR_045582,NM_001253727,NR_045580 RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1 EXON Silent,Missense_R469H,Silent,Silent,Missense_R313H,Missense_R421H,Missense_R337H,Missense_R436H,Missense_R338H,Silent,Missense_R496H,Silent exm431542 4 159569856 [T/G] NR_045581,NM_021634,NR_045583,NR_045579,NM_001253733,NM_001253729,NM_001253732,NM_001253728,NM_001253730,NR_045582,NM_001253727,NR_045580 RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1 EXON Silent,Missense_Q654H,Silent,Silent,Missense_Q498H,Missense_Q606H,Missense_Q522H,Missense_Q621H,Missense_Q523H,Silent,Missense_Q681H,Silent exm431546 4 159573053 [A/G] NR_045581,NM_021634,NR_045583,NR_045579,NM_001253733,NM_001253729,NM_001253732,NM_001253728,NM_001253730,NR_045582,NM_001253727,NR_045580 RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1 EXON Silent,Missense_S707N,Silent,Silent,Missense_S551N,Missense_S659N,Missense_S575N,Missense_S674N,Missense_S576N,Silent,Missense_S734N,Silent exm2274056 4 159573193 [A/G] NR_045581,NM_021634,NR_045583,NR_045579,NM_001253733,NM_001253729,NM_001253732,NM_001253728,NM_001253730,NR_045582,NM_001253727,NR_045580 RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1 EXON Silent,Missense_N754D,Silent,Silent,Missense_N598D,Missense_N706D,Missense_N622D,Missense_N721D,Missense_N623D,Silent,Missense_N781D,Silent exm431554 4 159590838 [T/C] NM_001008393 C4orf46 EXON Missense_E90G exm431555 4 159590839 [T/C] NM_001008393 C4orf46 EXON Missense_E90K exm431557 4 159590841 [T/G] NM_001008393 C4orf46 EXON Missense_T89K exm431574 4 159601676 [T/C] NM_004453 ETFDH EXON Missense_T31I exm431576 4 159601706 [A/G] NM_004453 ETFDH EXON Missense_R41Q exm431596 4 159606337 [A/G] NM_004453 ETFDH EXON Missense_G191D exm431605 4 159616797 [T/C] NM_004453 ETFDH Silent exm431618 4 159620215 [A/G] NM_004453 ETFDH EXON Missense_R350Q exm431631 4 159627430 [T/C] NM_004453 ETFDH EXON Missense_H459Y exm2068597 4 159629558 [A/G] NM_004453 ETFDH EXON Missense_R578Q exm-rs8396 4 159630817 [T/C] NM_005038 PPID EXON Silent exm431660 4 159631800 [T/C] NM_005038 PPID EXON Missense_G335E exm431666 4 159631991 [T/G] NM_005038 PPID EXON Missense_L302I exm431667 4 159634297 [A/G] NM_005038 PPID EXON Nonsense_Q290X exm431679 4 159636830 [T/C] NM_005038 PPID EXON Missense_V177I exm431682 4 159638271 [T/C] NM_005038 PPID EXON Missense_T139A exm431688 4 159638346 [A/G] NM_005038 PPID EXON Missense_R114W exm431702 4 159642576 [A/G] NM_005038 PPID EXON Missense_R49C exm431719 4 159747079 [T/C] NM_020840 FNIP2 EXON Missense_S40L exm431730 4 159772474 [T/C] NM_020840 FNIP2 EXON Synonymous_A243A exm431736 4 159780244 [C/G] NM_020840 FNIP2 EXON Missense_T298S exm431737 4 159780252 [T/C] NM_020840 FNIP2 EXON Missense_S301P exm431744 4 159780791 [A/G] NM_020840 FNIP2 EXON Missense_R374H exm431746 4 159782494 [A/G] NM_020840 FNIP2 EXON Synonymous_R383R exm431751 4 159782620 [A/G] NM_020840 FNIP2 EXON Missense_I425M exm431759 4 159782889 [T/G] NM_020840 FNIP2 EXON Missense_A476S exm431764 4 159789403 [C/G] NM_020840 FNIP2 EXON Missense_G539R exm2256435 4 159789501 [A/G] NM_020840 FNIP2 EXON Synonymous_T571T exm431772 4 159789526 [T/C] NM_020840 FNIP2 EXON Missense_P580S exm431773 4 159789541 [T/C] NM_020840 FNIP2 EXON Missense_P585S exm431777 4 159789610 [A/G] NM_020840 FNIP2 EXON Missense_R608G exm431780 4 159789679 [A/G] NM_020840 FNIP2 EXON Missense_A631T exm431785 4 159789818 [T/C] NM_020840 FNIP2 EXON Missense_M677T exm431788 4 159789850 [A/G] NM_020840 FNIP2 EXON Missense_V688M exm431794 4 159789988 [T/C] NM_020840 FNIP2 EXON Missense_R734C exm431797 4 159790010 [A/G] NM_020840 FNIP2 EXON Missense_R741Q exm431804 4 159790159 [T/A] NM_020840 FNIP2 EXON Missense_S791T exm431805 4 159790198 [A/G] NM_020840 FNIP2 EXON Missense_D804N exm431810 4 159790250 [T/C] NM_020840 FNIP2 EXON Missense_T821I exm431812 4 159790261 [A/G] NM_020840 FNIP2 EXON Missense_G825S exm431813 4 159790274 [T/C] NM_020840 FNIP2 EXON Missense_T829M exm2068648 4 159790283 [A/G] NM_020840 FNIP2 EXON Missense_R832K exm431818 4 159790352 [G/C] NM_020840 FNIP2 EXON Missense_P855R exm431836 4 159812658 [T/C] NM_020840 FNIP2 EXON Missense_W1004R exm431843 4 159816971 [T/C] NM_020840,NM_152543 FNIP2,C4orf45 EXON Missense_R1074W,Silent exm431847 4 159836336 [A/G] NM_152543 C4orf45 EXON Missense_P178S exm431848 4 159836342 [A/T] NM_152543 C4orf45 EXON Nonsense_K176X exm431850 4 159836437 [A/G] NM_152543 C4orf45 EXON Missense_F144S exm431851 4 159836461 [A/G] NM_152543 C4orf45 EXON Missense_S136F exm431854 4 159836467 [T/C] NM_152543 C4orf45 EXON Missense_R134H exm2240617 4 159881453 [T/C] NM_152543 C4orf45 EXON Missense_R114K exm2269871 4 159884753 [T/C] NM_152543 C4orf45 Silent exm431858 4 159894241 [A/T] NM_152543 C4orf45 EXON Missense_F96Y exm431859 4 159894250 [T/C] NM_152543 C4orf45 EXON Missense_G93E exm431861 4 159894277 [T/C] NM_152543 C4orf45 EXON Missense_Y84C exm431862 4 159894305 [T/C] NM_152543 C4orf45 EXON Missense_S75G exm431864 4 159894311 [A/G] NM_152543 C4orf45 EXON Missense_Y73H exm2240618 4 159894331 [A/G] NM_152543 C4orf45 EXON Missense_P66L exm431868 4 159894353 [A/G] NM_152543 C4orf45 EXON Missense_P59S exm431869 4 159894368 [T/C] NM_152543 C4orf45 EXON Missense_R54G exm431870 4 159894391 [A/G] NM_152543 C4orf45 EXON Missense_A46V exm431889 4 160225621 [A/G] NM_014247 RAPGEF2 EXON Missense_Y63C exm431899 4 160244653 [A/G] NM_014247 RAPGEF2 EXON Missense_T184A exm2256439 4 160252817 [A/G] NM_014247 RAPGEF2 EXON Synonymous_A376A exm431948 4 160264178 [A/G] NM_014247 RAPGEF2 EXON Missense_K828R exm431953 4 160264543 [T/A] NM_014247 RAPGEF2 EXON Missense_M920L exm431954 4 160264556 [A/G] NM_014247 RAPGEF2 EXON Missense_R924Q exm431956 4 160266286 [A/G] NM_014247 RAPGEF2 EXON Missense_T942A exm431966 4 160268079 [T/G] NM_014247 RAPGEF2 EXON Missense_G1053V exm431970 4 160268114 [T/C] NM_014247 RAPGEF2 EXON Missense_R1065W exm431990 4 160274698 [C/G] NM_014247 RAPGEF2 EXON Missense_S1223C exm431991 4 160274740 [T/C] NM_014247 RAPGEF2 EXON Missense_A1237V exm431996 4 160274815 [T/C] NM_014247 RAPGEF2 EXON Missense_T1262M exm432004 4 160274937 [T/C] NM_014247 RAPGEF2 EXON Missense_H1303Y exm432009 4 160275127 [T/C] NM_014247 RAPGEF2 EXON Missense_T1366M exm432011 4 160275172 [T/C] NM_014247 RAPGEF2 EXON Missense_A1381V exm432023 4 160277263 [T/C] NM_014247 RAPGEF2 EXON Missense_P1476L exm2269982 4 160341351 [T/G] exm2269872 4 160607399 [T/C] exm-rs9762089 4 160630642 [T/C] exm2261646 4 161064449 [T/C] exm-rs17291045 4 161506897 [T/C] exm2265783 4 161508641 [A/G] exm2269984 4 161767814 [T/C] exm2264074 4 162227234 [A/C] exm-rs4470583 4 162250932 [A/G] exm432033 4 162307000 [T/C] NM_001128428,NM_020116,NM_001128427 FSTL5,FSTL5,FSTL5 EXON Missense_K805E,Missense_K815E,Missense_K814E exm432034 4 162307028 [A/C] NM_001128428,NM_020116,NM_001128427 FSTL5,FSTL5,FSTL5 EXON Missense_L795F,Missense_L805F,Missense_L804F exm432035 4 162307059 [T/C] NM_001128428,NM_020116,NM_001128427 FSTL5,FSTL5,FSTL5 EXON Missense_R785Q,Missense_R795Q,Missense_R794Q exm432042 4 162307312 [A/C] NM_001128428,NM_020116,NM_001128427 FSTL5,FSTL5,FSTL5 EXON Missense_D701Y,Missense_D711Y,Missense_D710Y exm2256444 4 162307361 [T/C] NM_001128428,NM_020116,NM_001128427 FSTL5,FSTL5,FSTL5 EXON Synonymous_T684T,Synonymous_T694T,Synonymous_T693T exm432052 4 162307501 [T/C] NM_001128428,NM_020116,NM_001128427 FSTL5,FSTL5,FSTL5 EXON Missense_V638I,Missense_V648I,Missense_V647I exm432057 4 162376178 [T/C] NM_001128428,NM_020116,NM_001128427 FSTL5,FSTL5,FSTL5 EXON Missense_T597A,Missense_T607A,Missense_T606A exm432063 4 162376260 [A/C] NM_001128428,NM_020116,NM_001128427 FSTL5,FSTL5,FSTL5 EXON Synonymous_G569G,Synonymous_G579G,Synonymous_G578G exm2256445 4 162376260 [A/C] NM_001128428,NM_020116,NM_001128427 FSTL5,FSTL5,FSTL5 EXON Synonymous_G569G,Synonymous_G579G,Synonymous_G578G exm432075 4 162402270 [T/C] NM_001128428,NM_020116,NM_001128427 FSTL5,FSTL5,FSTL5 EXON Missense_A494T,Missense_A504T,Missense_A503T exm432080 4 162421268 [A/G] NM_001128428,NM_020116,NM_001128427 FSTL5,FSTL5,FSTL5 EXON Missense_M443T,Missense_M453T,Missense_M452T exm432095 4 162508645 [T/C] NM_001128428,NM_020116,NM_001128427 FSTL5,FSTL5,FSTL5 EXON Missense_Y325C,Missense_Y326C,Missense_Y325C exm432096 4 162508676 [T/C] NM_001128428,NM_020116,NM_001128427 FSTL5,FSTL5,FSTL5 EXON Missense_V315I,Missense_V316I,Missense_V315I exm432110 4 162577630 [T/A] NM_001128428,NM_020116,NM_001128427 FSTL5,FSTL5,FSTL5 EXON Missense_S247R,Missense_S248R,Missense_S247R exm432111 4 162577640 [A/G] NM_001128428,NM_020116,NM_001128427 FSTL5,FSTL5,FSTL5 EXON Missense_I244T,Missense_I245T,Missense_I244T exm-rs17638464 4 162602209 [A/G] NM_001128428,NM_020116,NM_001128427 FSTL5,FSTL5,FSTL5 Silent,Silent,Silent exm432112 4 162680619 [T/C] NM_001128428,NM_020116,NM_001128427 FSTL5,FSTL5,FSTL5 EXON Missense_Y223C,Missense_Y224C,Missense_Y223C exm432113 4 162680682 [A/G] NM_001128428,NM_020116,NM_001128427 FSTL5,FSTL5,FSTL5 EXON Missense_V202A,Missense_V203A,Missense_V202A exm432116 4 162697058 [T/C] NM_001128428,NM_020116,NM_001128427 FSTL5,FSTL5,FSTL5 EXON Missense_G192E,Missense_G193E,Missense_G192E exm432117 4 162697105 [A/C] NM_001128428,NM_020116,NM_001128427 FSTL5,FSTL5,FSTL5 EXON Missense_K176N,Missense_K177N,Missense_K176N exm432119 4 162697119 [T/C] NM_001128428,NM_020116,NM_001128427 FSTL5,FSTL5,FSTL5 EXON Missense_I172V,Missense_I173V,Missense_I172V exm432120 4 162697125 [T/C] NM_001128428,NM_020116,NM_001128427 FSTL5,FSTL5,FSTL5 EXON Missense_D170N,Missense_D171N,Missense_D170N exm432122 4 162697189 [A/T] NM_001128428,NM_020116,NM_001128427 FSTL5,FSTL5,FSTL5 EXON Missense_K148N,Missense_K149N,Missense_K148N exm2264105 4 162713356 [A/C] NM_001128428,NM_020116,NM_001128427 FSTL5,FSTL5,FSTL5 Silent,Silent,Silent exm432134 4 162841799 [T/C] NM_001128428,NM_020116,NM_001128427 FSTL5,FSTL5,FSTL5 EXON Missense_M55V,Missense_M56V,Missense_M55V exm2265784 4 162912081 [A/G] NM_001128428,NM_020116,NM_001128427 FSTL5,FSTL5,FSTL5 Silent,Silent,Silent exm432144 4 163032521 [C/G] NM_001128428,NM_020116,NM_001128427 FSTL5,FSTL5,FSTL5 EXON Missense_V10L,Missense_V10L,Missense_V10L exm2261648 4 163179525 [A/G] exm2265785 4 163297150 [A/G] exm-rs195920 4 163605665 [T/C] exm2265786 4 163939622 [A/G] exm432146 4 164048199 [C/G] NM_001128931 NAF1 EXON Missense_L368V exm432150 4 164050056 [T/G] NM_001128931,NM_138386 NAF1,NAF1 EXON Silent,Missense_Y493S exm432156 4 164050186 [T/C] NM_001128931,NM_138386 NAF1,NAF1 EXON Silent,Missense_G450S exm432171 4 164054373 [T/G] NM_001128931,NM_138386 NAF1,NAF1 EXON Missense_E322D,Missense_E322D exm432178 4 164061462 [T/C] NM_001128931,NM_138386 NAF1,NAF1 EXON Missense_S264N,Missense_S264N exm432188 4 164085425 [T/C] NM_001128931,NM_138386 NAF1,NAF1 EXON Missense_I162V,Missense_I162V exm432189 4 164085470 [T/C] NM_001128931,NM_138386 NAF1,NAF1 EXON Missense_I147V,Missense_I147V exm432210 4 164087753 [A/G] NM_001128931,NM_138386 NAF1,NAF1 EXON Missense_P43S,Missense_P43S exm432214 4 164087797 [A/G] NM_001128931,NM_138386 NAF1,NAF1 EXON Missense_A28V,Missense_A28V exm2265888 4 164200171 [A/G] exm432218 4 164246489 [T/G] NM_000909 NPY1R EXON Missense_K374T exm432233 4 164246901 [A/G] NM_000909 NPY1R EXON Missense_R237C exm432251 4 164247375 [A/G] NM_000909 NPY1R EXON Missense_A111V exm432253 4 164247579 [A/G] NM_000909 NPY1R EXON Missense_L43S exm2068891 4 164247588 [A/G] NM_000909 NPY1R EXON Missense_I40T exm432257 4 164247673 [A/G] NM_000909 NPY1R EXON Missense_H12Y exm432282 4 164272165 [A/G] NM_006174 NPY5R EXON Missense_N247S exm432287 4 164272272 [A/C] NM_006174 NPY5R EXON Missense_K283Q exm2068897 4 164272341 [A/G] NM_006174 NPY5R EXON Missense_E306K exm432294 4 164272439 [T/G] NM_006174 NPY5R EXON Missense_E338D exm432298 4 164272621 [T/C] NM_006174 NPY5R EXON Missense_S399L exm432306 4 164393029 [T/C] NM_032136 TKTL2 EXON Missense_V620I exm432309 4 164393092 [A/G] NM_032136 TKTL2 EXON Missense_R599C exm432311 4 164393117 [T/A] NM_032136 TKTL2 EXON Missense_Q590H exm432319 4 164393260 [A/G] NM_032136 TKTL2 EXON Missense_P543S exm432321 4 164393464 [G/C] NM_032136 TKTL2 EXON Missense_R475G exm2068919 4 164393508 [T/C] NM_032136 TKTL2 EXON Missense_H460R exm432328 4 164393674 [A/G] NM_032136 TKTL2 EXON Nonsense_R405X exm2068922 4 164393776 [A/G] NM_032136 TKTL2 EXON Nonsense_Q371X exm432335 4 164393835 [A/G] NM_032136 TKTL2 EXON Missense_F351S exm432336 4 164393887 [A/G] NM_032136 TKTL2 EXON Missense_R334C exm432337 4 164393904 [A/G] NM_032136 TKTL2 EXON Missense_A328V exm432349 4 164394262 [T/C] NM_032136 TKTL2 EXON Missense_A209T exm432352 4 164394321 [A/C] NM_032136 TKTL2 EXON Missense_G189V exm432353 4 164394333 [A/G] NM_032136 TKTL2 EXON Missense_V185A exm432354 4 164394337 [T/C] NM_032136 TKTL2 EXON Missense_D184N exm2256451 4 164394541 [A/G] NM_032136 TKTL2 EXON Synonymous_L116L exm432373 4 164394616 [C/G] NM_032136 TKTL2 EXON Missense_G91R exm432378 4 164394765 [T/G] NM_032136 TKTL2 EXON Nonsense_S41X exm2264075 4 164402006 [A/C] exm432389 4 164428216 [A/G] NM_018352 TMA16 EXON Missense_R12Q exm432394 4 164435265 [A/C] NM_018352 TMA16 EXON Missense_Q65P exm2068944 4 164436465 [T/G] NM_018352 TMA16 EXON Missense_R80S exm432396 4 164436508 [T/C] NM_018352 TMA16 EXON Missense_H95Y exm432397 4 164436515 [A/G] NM_018352 TMA16 EXON Missense_S97N exm432402 4 164436580 [T/C] NM_018352 TMA16 EXON Missense_R119W exm432442 4 164507031 [T/C] NM_001166373,NM_017923 MARCH1,MARCH1 EXON Missense_R98H,Missense_R81H exm-rs3792615 4 164532801 [T/C] NM_001166373,NM_017923 MARCH1,MARCH1 Silent,Silent exm432449 4 164534517 [A/G] NM_001166373,NM_017923 MARCH1,MARCH1 EXON Missense_P64L,Missense_P47L exm432454 4 164534644 [A/G] NM_001166373,NM_017923 MARCH1,MARCH1 EXON Silent,Missense_H5Y exm2265787 4 164801854 [A/G] NM_001166373 MARCH1 Silent exm432467 4 165118266 [T/C] NM_001166373,NM_012403 MARCH1,ANP32C EXON Silent,Missense_S200G exm432475 4 165118446 [A/G] NM_001166373,NM_012403 MARCH1,ANP32C EXON Silent,Missense_Y140H exm432476 4 165118455 [T/G] NM_001166373,NM_012403 MARCH1,ANP32C EXON Silent,Missense_Q137K exm432478 4 165118467 [T/C] NM_001166373,NM_012403 MARCH1,ANP32C EXON Silent,Missense_K133E exm432487 4 165118652 [T/C] NM_001166373,NM_012403 MARCH1,ANP32C EXON Silent,Missense_R71K exm432488 4 165118679 [T/A] NM_001166373,NM_012403 MARCH1,ANP32C EXON Silent,Missense_K62M exm432491 4 165118731 [T/C] NM_001166373,NM_012403 MARCH1,ANP32C EXON Silent,Missense_E45K exm432498 4 165118820 [A/G] NM_001166373,NM_012403 MARCH1,ANP32C EXON Silent,Missense_A15V exm2269985 4 165221971 [T/G] NM_001166373 MARCH1 Silent exm2269873 4 165445733 [T/G] NR_049864 MIR5684 Silent exm432509 4 165878311 [T/C] NM_001012414,NM_153027 TRIM61,FAM218A EXON Silent,Missense_P46L exm432510 4 165878335 [A/G] NM_001012414,NM_153027 TRIM61,FAM218A EXON Silent,Missense_H54R exm432524 4 165878463 [A/G] NM_001012414,NM_153027 TRIM61,FAM218A EXON Silent,Missense_R97G exm432528 4 165878499 [T/C] NM_001012414,NM_153027 TRIM61,FAM218A EXON Silent,Missense_P109S exm432530 4 165878567 [G/C] NM_001012414,NM_153027 TRIM61,FAM218A EXON Silent,Missense_R131S exm2256455 4 165878588 [A/G] NM_001012414,NM_153027 TRIM61,FAM218A EXON Silent,Synonymous_T138T exm2240639 4 165898682 [T/C] NM_001012414 TRIM61 Silent exm2269874 4 165926586 [T/C] exm432553 4 165961430 [T/C] NM_001258025,NM_152620 TRIM60,TRIM60 EXON Missense_P69L,Missense_P69L exm432568 4 165961828 [A/C] NM_001258025,NM_152620 TRIM60,TRIM60 EXON Missense_L202I,Missense_L202I exm432569 4 165961840 [A/C] NM_001258025,NM_152620 TRIM60,TRIM60 EXON Missense_Q206K,Missense_Q206K exm432570 4 165961850 [T/A] NM_001258025,NM_152620 TRIM60,TRIM60 EXON Missense_E209V,Missense_E209V exm432571 4 165961889 [T/A] NM_001258025,NM_152620 TRIM60,TRIM60 EXON Missense_E222V,Missense_E222V exm432573 4 165961915 [A/T] NM_001258025,NM_152620 TRIM60,TRIM60 EXON Nonsense_K231X,Nonsense_K231X exm432575 4 165961984 [A/C] NM_001258025,NM_152620 TRIM60,TRIM60 EXON Missense_S254R,Missense_S254R exm2277276 4 165961984 [A/G] NM_001258025,NM_152620 TRIM60,TRIM60 EXON Missense_S254G,Missense_S254G exm432576 4 165961988 [T/G] NM_001258025,NM_152620 TRIM60,TRIM60 EXON Missense_M255R,Missense_M255R exm432579 4 165962050 [A/G] NM_001258025,NM_152620 TRIM60,TRIM60 EXON Missense_G276S,Missense_G276S exm432581 4 165962176 [T/C] NM_001258025,NM_152620 TRIM60,TRIM60 EXON Nonsense_R318X,Nonsense_R318X exm432584 4 165962270 [A/G] NM_001258025,NM_152620 TRIM60,TRIM60 EXON Missense_R349Q,Missense_R349Q exm432585 4 165962273 [A/G] NM_001258025,NM_152620 TRIM60,TRIM60 EXON Missense_H350R,Missense_H350R exm432587 4 165962311 [T/A] NM_001258025,NM_152620 TRIM60,TRIM60 EXON Missense_I363L,Missense_I363L exm432591 4 165962374 [A/G] NM_001258025,NM_152620 TRIM60,TRIM60 EXON Missense_G384R,Missense_G384R exm432596 4 165962462 [T/G] NM_001258025,NM_152620 TRIM60,TRIM60 EXON Missense_S413I,Missense_S413I exm432597 4 165962490 [T/A] NM_001258025,NM_152620 TRIM60,TRIM60 EXON Missense_E422D,Missense_E422D exm432664 4 166021848 [T/C] NM_001100389 TMEM192 EXON Missense_R124Q exm432677 4 166024181 [A/T] NM_001100389 TMEM192 EXON Missense_H32L exm2240642 4 166218836 [T/C] NM_007246,NM_001161521,NM_001161522 KLHL2,KLHL2,KLHL2 EXON Missense_H244Y,Missense_H248Y,Missense_H156Y exm432746 4 166258981 [A/G] NM_001017369,NM_006745 MSMO1,MSMO1 EXON Silent,Missense_K99R exm432750 4 166259061 [C/G] NM_001017369,NM_006745 MSMO1,MSMO1 EXON Silent,Missense_P126A exm432757 4 166261449 [T/C] NM_001017369,NM_006745 MSMO1,MSMO1 EXON Missense_I72T,Missense_I203T exm432759 4 166261451 [A/G] NM_001017369,NM_006745 MSMO1,MSMO1 EXON Missense_V73M,Missense_V204M exm432761 4 166261514 [A/G] NM_001017369,NM_006745 MSMO1,MSMO1 EXON Missense_I94V,Missense_I225V exm432771 4 166263034 [A/G] NM_001017369,NM_006745 MSMO1,MSMO1 EXON Missense_G142E,Missense_G273E exm432781 4 166300588 [T/C] NM_001873 CPE EXON Missense_A72V exm432798 4 166388933 [A/G] NM_001873 CPE EXON Missense_V200M exm432804 4 166403458 [A/G] NM_001873 CPE EXON Missense_N246S exm432813 4 166405670 [A/G] NM_001873 CPE EXON Missense_N296S exm432827 4 166414347 [A/G] NM_001873 CPE EXON Missense_V380I exm432828 4 166414386 [A/G] NM_001873 CPE EXON Missense_I393V exm432832 4 166416765 [T/C] NM_001873 CPE EXON Missense_A423V exm432834 4 166416806 [A/G] NM_001873 CPE EXON Missense_V437I exm432837 4 166418725 [A/G] NM_001873 CPE EXON Missense_E465G exm2269875 4 166438457 [T/C] exm2261652 4 166449915 [A/G] exm-rs1870477 4 166605228 [A/G] exm432846 4 166795123 [C/G] NM_012464,NM_001204760 TLL1,TLL1 EXON Missense_G23R,Missense_G23R exm432854 4 166914005 [A/C] NM_012464,NM_001204760 TLL1,TLL1 EXON Missense_Q110H,Missense_Q110H exm432860 4 166915629 [T/C] NM_012464,NM_001204760 TLL1,TLL1 EXON Missense_T153M,Missense_T153M exm432871 4 166924623 [T/C] NM_012464,NM_001204760 TLL1,TLL1 EXON Missense_V238A,Missense_V238A exm432877 4 166929095 [A/G] NM_012464,NM_001204760 TLL1,TLL1 EXON Missense_G271D,Missense_G271D exm432897 4 166963248 [A/G] NM_012464 TLL1 EXON Missense_R444H exm432906 4 166976307 [A/G] NM_012464 TLL1 EXON Missense_R535H exm432907 4 166976336 [A/G] NM_012464 TLL1 EXON Missense_I545V exm2240648 4 166976385 [T/C] NM_012464 TLL1 EXON Missense_T561I exm432913 4 166978362 [T/C] NM_012464 TLL1 EXON Missense_R583C exm432914 4 166978363 [A/G] NM_012464 TLL1 EXON Missense_R583H exm2256460 4 166981211 [T/C] NM_012464 TLL1 EXON Synonymous_N626N exm2256461 4 166981852 [A/G] NM_012464 TLL1 Silent exm2256462 4 166986900 [A/G] NM_012464 TLL1 EXON Synonymous_K691K exm432931 4 166986910 [A/G] NM_012464 TLL1 EXON Missense_A695T exm432948 4 167012286 [A/G] NM_012464 TLL1 EXON Missense_S817G exm2256463 4 167012480 [T/C] NM_012464 TLL1 EXON Synonymous_A881A exm2069136 4 167020514 [C/G] NM_012464 TLL1 EXON Missense_Q914H exm432962 4 167020555 [A/G] NM_012464 TLL1 EXON Missense_R928Q exm432965 4 167020644 [A/G] NM_012464 TLL1 EXON Missense_T958A exm2265789 4 167407097 [A/G] exm2265890 4 167625748 [A/G] exm432977 4 167656090 [G/C] NM_016950,NM_001251967,NM_001204355,NM_001204354,NM_001040159,NM_001204352,NM_001204353,NM_001204356 SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3 EXON Missense_D431E,Missense_D333E,Missense_D335E,Missense_D339E,Missense_D428E,Missense_D380E,Missense_D311E,Missense_D388E exm432981 4 167656160 [A/G] NM_016950,NM_001251967,NM_001204355,NM_001204354,NM_001040159,NM_001204352,NM_001204353,NM_001204356 SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3 EXON Missense_I408T,Missense_I310T,Missense_I312T,Missense_I316T,Missense_I405T,Missense_I357T,Missense_I288T,Missense_I365T exm432995 4 167663171 [T/C] NM_016950,NM_001251967,NM_001204355,NM_001204354,NM_001040159,NM_001204352,NM_001204353,NM_001204356 SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3 EXON Missense_R327Q,Missense_R229Q,Missense_R231Q,Missense_R235Q,Missense_R324Q,Missense_R276Q,Missense_R207Q,Missense_R284Q exm-rs6552223 4 167694282 [T/G] NM_016950,NM_001251967,NM_001204355,NM_001204354,NM_001040159,NM_001204352,NM_001204353,NM_001204356,NM_001204358 SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm2069161 4 167713405 [T/C] NM_016950,NM_001251967,NM_001204355,NM_001204354,NM_001040159,NM_001204352,NM_001204353,NM_001204356,NM_001204358 SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3 EXON Missense_R212G,Missense_R114G,Missense_R116G,Missense_R120G,Missense_R209G,Missense_R161G,Missense_R92G,Silent,Missense_R209G exm433013 4 167921516 [A/G] NM_016950,NM_001251967,NM_001204355,NM_001204354,NM_001040159,NM_001204352,NM_001204353,NM_001204356,NM_001204358 SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3 EXON Missense_R115W,Silent,Silent,Missense_R23W,Missense_R112W,Missense_R64W,Silent,Missense_R112W,Missense_R112W exm433015 4 167921525 [T/C] NM_016950,NM_001251967,NM_001204355,NM_001204354,NM_001040159,NM_001204352,NM_001204353,NM_001204356,NM_001204358 SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3 EXON Missense_I112V,Silent,Silent,Missense_I20V,Missense_I109V,Missense_I61V,Silent,Missense_I109V,Missense_I109V exm433030 4 168155178 [A/G] NM_016950,NM_001251967,NM_001204355,NM_001204354,NM_001040159,NM_001204352,NM_001204353,NM_001204356,NM_001204358 SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3 EXON Synonymous_S49S,Synonymous_S49S,Missense_L10P,Silent,Synonymous_S49S,Silent,Silent,Synonymous_S49S,Synonymous_S49S exm433031 4 168155233 [T/C] NM_016950,NM_001251967,NM_001204355,NM_001204354,NM_001040159,NM_001204352,NM_001204353,NM_001204356,NM_001204358 SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3 EXON Missense_G31E,Missense_G31E,Silent,Silent,Missense_G31E,Silent,Silent,Missense_G31E,Missense_G31E exm433033 4 168155251 [A/G] NM_016950,NM_001251967,NM_001204355,NM_001204354,NM_001040159,NM_001204352,NM_001204353,NM_001204356,NM_001204358 SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3 EXON Missense_A25V,Missense_A25V,Silent,Silent,Missense_A25V,Silent,Silent,Missense_A25V,Missense_A25V exm2265791 4 168292322 [A/G] exm2269986 4 168610140 [T/C] exm2269876 4 168965733 [T/G] exm433045 4 169060675 [T/C] NM_007193 ANXA10 EXON Missense_R47C exm433046 4 169060676 [A/G] NM_007193 ANXA10 EXON Missense_R47H exm433047 4 169060721 [T/C] NM_007193 ANXA10 EXON Missense_M62T exm433048 4 169060729 [T/C] NM_007193 ANXA10 EXON Missense_R65W exm433049 4 169060730 [A/G] NM_007193 ANXA10 EXON Missense_R65Q exm433050 4 169083694 [A/C] NM_007193 ANXA10 EXON Missense_M71L exm2069195 4 169098900 [A/G] NM_007193 ANXA10 EXON Missense_E164K exm433066 4 169099040 [A/G] NM_007193 ANXA10 Silent exm2069197 4 169099083 [A/C] NM_007193 ANXA10 EXON Missense_T193P exm433068 4 169099089 [G/C] NM_007193 ANXA10 EXON Missense_L195V exm433075 4 169100440 [T/C] NM_007193 ANXA10 EXON Missense_F234S exm433077 4 169100461 [T/C] NM_007193 ANXA10 EXON Missense_I241T exm2240650 4 169108563 [T/C] NM_007193 ANXA10 EXON Missense_A318V exm433098 4 169141828 [A/C] NM_017631 DDX60 EXON Missense_A1673S exm433099 4 169141843 [A/C] NM_017631 DDX60 EXON Missense_L1668V exm433104 4 169142960 [T/C] NM_017631 DDX60 EXON Missense_G1633R exm433106 4 169143007 [T/C] NM_017631 DDX60 EXON Missense_N1617S exm433108 4 169143032 [A/C] NM_017631 DDX60 EXON Missense_V1609F exm433117 4 169146815 [T/C] NM_017631 DDX60 EXON Missense_D1516N exm2256469 4 169158869 [C/G] NM_017631 DDX60 EXON Synonymous_L1414L exm433149 4 169172157 [T/C] NM_017631 DDX60 EXON Missense_S1269N exm433166 4 169182043 [A/G] NM_017631 DDX60 EXON Missense_M1124T exm433167 4 169182049 [G/C] NM_017631 DDX60 EXON Missense_R1122T exm433181 4 169183257 [A/G] NM_017631 DDX60 EXON Missense_I1056T exm433184 4 169183895 [T/C] NM_017631 DDX60 EXON Missense_R1028Q exm433190 4 169188780 [T/C] NM_017631 DDX60 EXON Missense_I998V exm433195 4 169189033 [T/G] NM_017631 DDX60 EXON Missense_K963T exm433198 4 169189058 [T/C] NM_017631 DDX60 EXON Missense_V955M exm2069241 4 169190054 [A/G] NM_017631 DDX60 EXON Missense_P913S exm2256470 4 169195109 [A/C] NM_017631 DDX60 EXON Synonymous_V810V exm433216 4 169195117 [T/C] NM_017631 DDX60 EXON Missense_D808N exm433221 4 169196509 [A/G] NM_017631 DDX60 EXON Missense_P764L exm433226 4 169196609 [T/C] NM_017631 DDX60 EXON Missense_V731I exm433234 4 169197297 [T/C] NM_017631 DDX60 EXON Missense_V672M exm433244 4 169201648 [A/C] NM_017631 DDX60 EXON Missense_F606V exm433249 4 169204632 [T/G] NM_017631 DDX60 EXON Missense_K563Q exm433252 4 169206006 [T/C] NM_017631 DDX60 EXON Missense_S509N exm433265 4 169208334 [T/C] NM_017631 DDX60 EXON Missense_D402N exm433278 4 169212943 [T/C] NM_017631 DDX60 EXON Missense_I333V exm433287 4 169214981 [T/C] NM_017631 DDX60 EXON Missense_G280E exm433301 4 169227787 [T/C] NM_017631 DDX60 EXON Missense_I117V exm433302 4 169227811 [T/G] NM_017631 DDX60 EXON Missense_L109I exm433307 4 169229168 [T/C] NM_017631 DDX60 EXON Missense_V85I exm433315 4 169279300 [A/G] NM_001012967 DDX60L EXON Missense_X1707Q exm433317 4 169279303 [T/C] NM_001012967 DDX60L EXON Missense_E1706K exm433322 4 169282315 [T/C] NM_001012967 DDX60L EXON Missense_N1659S exm433323 4 169282355 [T/C] NM_001012967 DDX60L EXON Missense_M1646V exm433330 4 169292896 [T/C] NM_001012967 DDX60L EXON Missense_G1599S exm2069295 4 169292905 [A/G] NM_001012967 DDX60L EXON Missense_R1596C exm433338 4 169294896 [T/C] NM_001012967 DDX60L EXON Missense_G1566E exm433347 4 169299528 [T/C] NM_001012967 DDX60L EXON Missense_N1488D exm433350 4 169299588 [T/C] NM_001012967 DDX60L EXON Missense_V1468M exm433351 4 169299603 [T/C] NM_001012967 DDX60L EXON Missense_V1463M exm433352 4 169299627 [T/C] NM_001012967 DDX60L Silent exm433356 4 169300618 [T/G] NM_001012967 DDX60L EXON Missense_A1420E exm433359 4 169300938 [T/C] NM_001012967 DDX60L EXON Missense_R1387Q exm433365 4 169305860 [A/G] NM_001012967 DDX60L EXON Missense_P1340L exm433377 4 169315671 [A/G] NM_001012967 DDX60L EXON Missense_M1252T exm433379 4 169315740 [T/C] NM_001012967 DDX60L EXON Missense_R1229Q exm433380 4 169315747 [A/G] NM_001012967 DDX60L EXON Nonsense_R1227X exm433383 4 169315760 [A/C] NM_001012967 DDX60L EXON Missense_E1222D exm433384 4 169317117 [T/G] NM_001012967 DDX60L EXON Missense_K1217T exm433390 4 169317225 [T/C] NM_001012967 DDX60L EXON Missense_Y1181C exm433415 4 169336591 [T/A] NM_001012967 DDX60L EXON Missense_F983I exm433416 4 169336662 [T/C] NM_001012967 DDX60L EXON Missense_Y959C exm433417 4 169336668 [A/G] NM_001012967 DDX60L EXON Missense_V957A exm433419 4 169336811 [A/G] NM_001012967 DDX60L EXON Missense_L956F exm433429 4 169340532 [A/G] NM_001012967 DDX60L EXON Missense_P844L exm433432 4 169341434 [T/C] NM_001012967 DDX60L EXON Missense_C831Y exm433433 4 169341435 [A/G] NM_001012967 DDX60L EXON Missense_C831R exm433434 4 169341450 [A/C] NM_001012967 DDX60L EXON Missense_F826V exm433442 4 169341519 [A/G] NM_001012967 DDX60L EXON Nonsense_Q803X exm433449 4 169343014 [A/G] NM_001012967 DDX60L EXON Missense_V764A exm433450 4 169343015 [T/C] NM_001012967 DDX60L EXON Missense_V764I exm433452 4 169343044 [A/G] NM_001012967 DDX60L EXON Missense_V754A exm433453 4 169343061 [T/C] NM_001012967 DDX60L Silent exm433456 4 169343769 [T/C] NM_001012967 DDX60L EXON Missense_R717Q exm433457 4 169343770 [A/G] NM_001012967 DDX60L EXON Missense_R717W exm433463 4 169348229 [T/C] NM_001012967 DDX60L EXON Missense_R641Q exm433464 4 169348230 [A/G] NM_001012967 DDX60L EXON Nonsense_R641X exm2069343 4 169348307 [G/C] NM_001012967 DDX60L EXON Missense_C615S exm433467 4 169348320 [A/C] NM_001012967 DDX60L EXON Missense_Y611D exm433469 4 169348404 [T/C] NM_001012967 DDX60L EXON Missense_A583T exm433475 4 169351673 [A/G] NM_001012967 DDX60L EXON Missense_R545W exm2069347 4 169351690 [A/G] NM_001012967 DDX60L EXON Missense_I539T exm433481 4 169353717 [T/C] NM_001012967 DDX60L EXON Missense_D469N exm433486 4 169362557 [C/G] NM_001012967 DDX60L EXON Missense_V409L exm433499 4 169369862 [T/A] NM_001012967 DDX60L EXON Missense_N355K exm433505 4 169369920 [T/C] NM_001012967 DDX60L EXON Missense_C336Y exm433513 4 169377257 [A/G] NM_001012967 DDX60L EXON Missense_S257L exm2069361 4 169377270 [A/G] NM_001012967 DDX60L EXON Missense_W253R exm433516 4 169379135 [A/G] NM_001012967 DDX60L EXON Missense_Y211H exm433518 4 169382849 [A/C] NM_001012967 DDX60L Silent exm433526 4 169383050 [C/G] NM_001012967 DDX60L EXON Missense_E136Q exm2256471 4 169383093 [T/C] NM_001012967 DDX60L EXON Synonymous_T121T exm433527 4 169383140 [A/C] NM_001012967 DDX60L EXON Missense_A106S exm-rs2710833 4 169409958 [T/C] exm2069377 4 169432663 [T/G] NM_001166108,NM_016081 PALLD,PALLD EXON Missense_G3V,Missense_G3V exm2256472 4 169432673 [T/C] NM_001166108,NM_016081 PALLD,PALLD EXON Synonymous_S6S,Synonymous_S6S exm433555 4 169432951 [A/C] NM_001166108,NM_016081 PALLD,PALLD EXON Nonsense_S99X,Nonsense_S99X exm433560 4 169433020 [T/C] NM_001166108,NM_016081 PALLD,PALLD EXON Missense_P122L,Missense_P122L exm433563 4 169433083 [A/G] NM_001166108,NM_016081 PALLD,PALLD EXON Missense_R143H,Missense_R143H exm433566 4 169433122 [T/C] NM_001166108,NM_016081 PALLD,PALLD EXON Missense_T156M,Missense_T156M exm433571 4 169433157 [G/C] NM_001166108,NM_016081 PALLD,PALLD EXON Missense_L168V,Missense_L168V exm433572 4 169433194 [T/C] NM_001166108,NM_016081 PALLD,PALLD EXON Missense_T180I,Missense_T180I exm433576 4 169433326 [T/C] NM_001166108,NM_016081 PALLD,PALLD EXON Missense_M224T,Missense_M224T exm433577 4 169433327 [A/G] NM_001166108,NM_016081 PALLD,PALLD EXON Missense_M224I,Missense_M224I exm433582 4 169433386 [A/G] NM_001166108,NM_016081 PALLD,PALLD EXON Missense_Q244R,Missense_Q244R exm433583 4 169433419 [A/G] NM_001166108,NM_016081 PALLD,PALLD EXON Missense_R255H,Missense_R255H exm433585 4 169433470 [A/G] NM_001166108,NM_016081 PALLD,PALLD EXON Missense_R272Q,Missense_R272Q exm433587 4 169433511 [A/G] NM_001166108,NM_016081 PALLD,PALLD EXON Missense_S286G,Missense_S286G exm-rs17054392 4 169530258 [T/C] NM_001166108,NM_016081 PALLD,PALLD Silent,Silent exm433592 4 169589341 [T/A] NM_001166108,NM_016081,NM_001166109 PALLD,PALLD,PALLD EXON Missense_R303S,Missense_R303S,Silent exm433596 4 169589431 [T/G] NM_001166108,NM_016081,NM_001166109 PALLD,PALLD,PALLD EXON Missense_E333D,Missense_E333D,Silent exm433598 4 169589454 [A/G] NM_001166108,NM_016081,NM_001166109 PALLD,PALLD,PALLD EXON Missense_R341H,Missense_R341H,Silent exm433599 4 169589472 [T/C] NM_001166108,NM_016081,NM_001166109 PALLD,PALLD,PALLD EXON Missense_T347M,Missense_T347M,Silent exm433609 4 169606649 [A/C] NM_001166108,NM_016081,NM_001166109 PALLD,PALLD,PALLD EXON Missense_T425N,Missense_T425N,Missense_T43N exm433610 4 169606664 [A/G] NM_001166108,NM_016081,NM_001166109 PALLD,PALLD,PALLD EXON Missense_R430Q,Missense_R430Q,Missense_R48Q exm433618 4 169611812 [A/G] NM_001166108,NM_016081,NM_001166109 PALLD,PALLD,PALLD EXON Missense_R465H,Missense_R465H,Missense_R83H exm2275778 4 169630202 [A/G] NM_001166108,NM_016081,NM_001166109 PALLD,PALLD,PALLD EXON Missense_A509T,Missense_A509T,Missense_A127T exm433629 4 169632959 [T/C] NM_001166108,NM_016081,NM_001166109 PALLD,PALLD,PALLD EXON Missense_R617C,Missense_R617C,Missense_R235C exm2269987 4 169772342 [T/C] NM_001166108,NM_016081,NM_001166109,NM_001166110 PALLD,PALLD,PALLD,PALLD Silent,Silent,Silent,Silent exm433654 4 169819786 [T/C] NM_001166108,NM_016081,NM_001166109,NM_001166110 PALLD,PALLD,PALLD,PALLD EXON Missense_M798T,Missense_M781T,Missense_M399T,Missense_M294T exm433656 4 169819807 [T/G] NM_001166108,NM_016081,NM_001166109,NM_001166110 PALLD,PALLD,PALLD,PALLD EXON Missense_I805S,Missense_I788S,Missense_I406S,Missense_I301S exm433665 4 169835150 [T/A] NM_001166108,NM_016081,NM_001166109,NM_001166110 PALLD,PALLD,PALLD,PALLD EXON Missense_S899T,Missense_S882T,Missense_S500T,Missense_S395T exm433666 4 169837047 [G/C] NM_001166108,NM_016081,NM_001166109,NM_001166110 PALLD,PALLD,PALLD,PALLD EXON Missense_P907A,Missense_P890A,Missense_P508A,Missense_P403A exm2069427 4 169837051 [A/G] NM_001166108,NM_016081,NM_001166109,NM_001166110 PALLD,PALLD,PALLD,PALLD EXON Missense_R908H,Missense_R891H,Missense_R509H,Missense_R404H exm2240667 4 169847374 [T/G] NM_001166108,NM_016081,NM_001166109,NM_001166110 PALLD,PALLD,PALLD,PALLD EXON Silent,Silent,Missense_H724Q,Missense_H619Q exm433696 4 169911312 [A/G] NM_032783 CBR4 EXON Missense_L235F exm433705 4 169911396 [T/C] NM_032783 CBR4 EXON Missense_I207V exm433707 4 169911458 [A/G] NM_032783 CBR4 EXON Missense_T186M exm433708 4 169911465 [C/G] NM_032783 CBR4 EXON Missense_D184H exm433711 4 169923227 [A/G] NM_032783 CBR4 EXON Missense_A177V exm433728 4 169928842 [T/G] NM_032783 CBR4 EXON Missense_L70M exm433734 4 169928890 [T/A] NM_032783 CBR4 EXON Missense_S54C exm2256475 4 169989993 [T/C] exm433770 4 170037572 [A/G] NM_020870 SH3RF1 EXON Missense_P663S exm433773 4 170037611 [T/G] NM_020870 SH3RF1 EXON Missense_S650R exm433774 4 170037658 [A/G] NM_020870 SH3RF1 EXON Missense_A634V exm433800 4 170038932 [T/C] NM_020870 SH3RF1 EXON Missense_A507T exm433808 4 170042130 [T/C] NM_020870 SH3RF1 EXON Missense_I453V exm433828 4 170057659 [A/G] NM_020870 SH3RF1 EXON Missense_S293F exm433842 4 170077691 [T/C] NM_020870 SH3RF1 EXON Missense_G178E exm433843 4 170077770 [C/G] NM_020870 SH3RF1 EXON Missense_D152H exm433854 4 170190188 [A/C] NM_020870 SH3RF1 EXON Missense_G59V exm2069490 4 170322819 [A/G] NM_001199397,NM_001199398,NM_001199400,NM_012224,NM_001199399 NEK1,NEK1,NEK1,NEK1,NEK1 EXON Synonymous_N1189N,Synonymous_N1145N,Synonymous_N1117N,Synonymous_N1161N,Synonymous_N1092N exm433890 4 170345879 [T/C] NM_001199397,NM_001199398,NM_001199400,NM_012224,NM_001199399 NEK1,NEK1,NEK1,NEK1,NEK1 EXON Missense_H1016R,Missense_H972R,Missense_H944R,Missense_H988R,Missense_H919R exm433902 4 170359267 [C/G] NM_001199397,NM_001199398,NM_001199400,NM_012224,NM_001199399 NEK1,NEK1,NEK1,NEK1,NEK1 EXON Missense_Q911E,Missense_Q867E,Missense_Q839E,Missense_Q883E,Missense_Q814E exm433904 4 170359351 [A/G] NM_001199397,NM_001199398,NM_001199400,NM_012224,NM_001199399 NEK1,NEK1,NEK1,NEK1,NEK1 EXON Missense_C883R,Missense_C839R,Missense_C811R,Missense_C855R,Missense_C786R exm433906 4 170359412 [T/C] NM_001199397,NM_001199398,NM_001199400,NM_012224,NM_001199399 NEK1,NEK1,NEK1,NEK1,NEK1 Silent,Silent,Silent,Silent,Silent exm433914 4 170398386 [A/G] NM_001199397,NM_001199398,NM_001199400,NM_012224,NM_001199399 NEK1,NEK1,NEK1,NEK1,NEK1 EXON Missense_H775Y,Missense_H731Y,Missense_H703Y,Missense_H747Y,Missense_H678Y exm433917 4 170398454 [T/C] NM_001199397,NM_001199398,NM_001199400,NM_012224,NM_001199399 NEK1,NEK1,NEK1,NEK1,NEK1 EXON Missense_E752G,Missense_E708G,Missense_E680G,Missense_E724G,Missense_E655G exm433918 4 170398474 [A/C] NM_001199397,NM_001199398,NM_001199400,NM_012224,NM_001199399 NEK1,NEK1,NEK1,NEK1,NEK1 EXON Missense_N745K,Missense_N701K,Missense_N673K,Missense_N717K,Missense_N648K exm433919 4 170398485 [A/G] NM_001199397,NM_001199398,NM_001199400,NM_012224,NM_001199399 NEK1,NEK1,NEK1,NEK1,NEK1 EXON Missense_R742C,Missense_R698C,Missense_R670C,Missense_R714C,Missense_R645C exm433923 4 170398627 [A/G] NM_001199397,NM_001199398,NM_001199400,NM_012224,NM_001199399 NEK1,NEK1,NEK1,NEK1,NEK1 EXON Missense_R721W,Missense_R677W,Missense_R649W,Missense_R693W,Missense_R624W exm433924 4 170400556 [T/C] NM_001199397,NM_001199398,NM_001199400,NM_012224,NM_001199399 NEK1,NEK1,NEK1,NEK1,NEK1 EXON Missense_V713M,Missense_V669M,Missense_V641M,Missense_V685M,Missense_V616M exm433926 4 170400583 [T/C] NM_001199397,NM_001199398,NM_001199400,NM_012224,NM_001199399 NEK1,NEK1,NEK1,NEK1,NEK1 EXON Missense_V704I,Missense_V660I,Missense_V632I,Missense_V676I,Missense_V607I exm433931 4 170428901 [T/C] NM_001199397,NM_001199398,NM_001199400,NM_012224,NM_001199399 NEK1,NEK1,NEK1,NEK1,NEK1 EXON Missense_A626T,Missense_A582T,Missense_A554T,Missense_A598T,Missense_A529T exm2256476 4 170459044 [A/G] NM_001199397,NM_001199398,NM_001199400,NM_012224,NM_001199399 NEK1,NEK1,NEK1,NEK1,NEK1 EXON Synonymous_A527A,Synonymous_A483A,Synonymous_A483A,Synonymous_A527A,Synonymous_A458A exm433941 4 170476887 [T/G] NM_001199397,NM_001199398,NM_001199400,NM_012224,NM_001199399 NEK1,NEK1,NEK1,NEK1,NEK1 EXON Missense_Q516K,Silent,Silent,Missense_Q516K,Silent exm433942 4 170476982 [T/C] NM_001199397,NM_001199398,NM_001199400,NM_012224,NM_001199399 NEK1,NEK1,NEK1,NEK1,NEK1 EXON Missense_R484H,Silent,Silent,Missense_R484H,Silent exm433945 4 170477125 [A/G] NM_001199397,NM_001199398,NM_001199400,NM_012224,NM_001199399 NEK1,NEK1,NEK1,NEK1,NEK1 EXON Missense_A463V,Missense_A463V,Missense_A463V,Missense_A463V,Missense_A438V exm433956 4 170483347 [T/C] NM_001199397,NM_001199398,NM_001199400,NM_012224,NM_001199399 NEK1,NEK1,NEK1,NEK1,NEK1 EXON Missense_A341T,Missense_A341T,Missense_A341T,Missense_A341T,Missense_A341T exm433961 4 170498175 [A/C] NM_001199397,NM_001199398,NM_001199400,NM_012224,NM_001199399 NEK1,NEK1,NEK1,NEK1,NEK1 EXON Missense_I308M,Missense_I308M,Missense_I308M,Missense_I308M,Missense_I308M exm433965 4 170506525 [T/C] NM_001199397,NM_001199398,NM_001199400,NM_012224,NM_001199399 NEK1,NEK1,NEK1,NEK1,NEK1 EXON Missense_R261H,Missense_R261H,Missense_R261H,Missense_R261H,Missense_R261H exm433966 4 170506526 [A/G] NM_001199397,NM_001199398,NM_001199400,NM_012224,NM_001199399 NEK1,NEK1,NEK1,NEK1,NEK1 EXON Missense_R261C,Missense_R261C,Missense_R261C,Missense_R261C,Missense_R261C exm433970 4 170506621 [T/C] NM_001199397,NM_001199398,NM_001199400,NM_012224,NM_001199399 NEK1,NEK1,NEK1,NEK1,NEK1 EXON Missense_Y229C,Missense_Y229C,Missense_Y229C,Missense_Y229C,Missense_Y229C exm433978 4 170509870 [A/G] NM_001199397,NM_001199398,NM_001199400,NM_012224,NM_001199399 NEK1,NEK1,NEK1,NEK1,NEK1 EXON Nonsense_R161X,Nonsense_R161X,Nonsense_R161X,Nonsense_R161X,Nonsense_R161X exm434026 4 170625324 [T/C] NM_173872,NM_001829,NM_001243372,NM_001243374 CLCN3,CLCN3,CLCN3,CLCN3 EXON Missense_A580V,Missense_A580V,Missense_A553V,Missense_A553V exm-rs10520163 4 170626552 [T/C] NM_173872,NM_001829,NM_001243372,NM_001243374 CLCN3,CLCN3,CLCN3,CLCN3 Silent,Silent,Silent,Silent exm2265793 4 170628524 [A/G] NM_173872,NM_001829,NM_001243372,NM_001243374 CLCN3,CLCN3,CLCN3,CLCN3 Silent,Silent,Silent,Silent exm434037 4 170634292 [A/G] NM_173872,NM_001829,NM_001243372,NM_001243374 CLCN3,CLCN3,CLCN3,CLCN3 EXON Missense_T738A,Missense_T738A,Missense_T711A,Missense_T711A exm434049 4 170641112 [A/G] NM_173872,NM_001829,NM_001243372,NM_001243374 CLCN3,CLCN3,CLCN3,CLCN3 EXON Missense_G833S,Synonymous_T807T,Synonymous_T780T,Synonymous_T780T exm434050 4 170641176 [T/C] NM_173872,NM_001829,NM_001243372,NM_001243374 CLCN3,CLCN3,CLCN3,CLCN3 EXON Missense_T854M,Silent,Silent,Silent exm434072 4 170663235 [T/C] NM_017867 C4orf27 EXON Missense_R174K exm434073 4 170663247 [A/G] NM_017867 C4orf27 EXON Missense_T170M exm434080 4 170669965 [T/C] NM_017867 C4orf27 EXON Missense_V143I exm434085 4 170671813 [A/T] NM_017867 C4orf27 EXON Missense_H91L exm2261658 4 170676328 [A/G] NM_017867 C4orf27 Silent exm434094 4 170678985 [A/G] NM_017867 C4orf27 EXON Missense_P15L exm434099 4 170912549 [T/C] NM_001009554,NM_021647 MFAP3L,MFAP3L EXON Missense_I301V,Missense_I404V exm434106 4 170912710 [A/G] NM_001009554,NM_021647 MFAP3L,MFAP3L EXON Missense_A247V,Missense_A350V exm434111 4 170912791 [A/G] NM_001009554,NM_021647 MFAP3L,MFAP3L EXON Missense_P220L,Missense_P323L exm434136 4 170913437 [T/C] NM_001009554,NM_021647 MFAP3L,MFAP3L EXON Missense_G5S,Missense_G108S exm434140 4 170926898 [A/C] NM_021647 MFAP3L EXON Missense_G44V exm434141 4 170926905 [A/C] NM_021647 MFAP3L EXON Missense_V42F exm434142 4 170926908 [T/C] NM_021647 MFAP3L EXON Missense_V41M exm434156 4 170987567 [G/C] NM_182662,NM_016228 AADAT,AADAT EXON Missense_T342S,Missense_T342S exm434157 4 170987613 [T/C] NM_182662,NM_016228 AADAT,AADAT EXON Missense_S327G,Missense_S327G exm434168 4 170990375 [T/C] NM_182662,NM_016228 AADAT,AADAT EXON Missense_V243I,Missense_V243I exm2256479 4 171089295 [T/C] exm2265794 4 171672038 [A/G] exm2265892 4 171743216 [A/G] exm2269879 4 171963233 [T/C] NR_038838 LOC100506122 Silent exm2265893 4 172388728 [A/G] exm2265795 4 172473450 [A/G] exm2265796 4 172880449 [A/G] NM_001034845 GALNTL6 Silent exm2265797 4 173231379 [A/G] NM_001034845 GALNTL6 Silent exm434205 4 173269681 [T/C] NM_001034845 GALNTL6 EXON Missense_H132Y exm434209 4 173269765 [A/G] NM_001034845 GALNTL6 EXON Missense_I160V exm434213 4 173730541 [A/G] NM_001034845 GALNTL6 EXON Missense_M195V exm2261663 4 173739244 [T/C] NM_001034845 GALNTL6 Silent exm2269880 4 173872313 [T/C] NM_001034845 GALNTL6 Silent exm434240 4 173873362 [A/C] NM_001034845 GALNTL6 EXON Missense_P442T exm2069737 4 173930407 [G/C] NM_001034845 GALNTL6 EXON Missense_V484L exm434248 4 173942658 [A/G] NM_001034845 GALNTL6 EXON Missense_R507Q exm434258 4 173961153 [A/C] NM_001034845 GALNTL6 EXON Missense_M570L exm434272 4 174090089 [T/C] NM_017423 GALNT7 EXON Missense_P35S exm434283 4 174169359 [A/G] NM_017423 GALNT7 EXON Missense_T119A exm434285 4 174169393 [A/G] NM_017423 GALNT7 EXON Missense_G130E exm434289 4 174169569 [A/G] NM_017423 GALNT7 EXON Missense_V189I exm434296 4 174216551 [G/C] NM_017423 GALNT7 EXON Missense_H253Q exm434298 4 174216603 [A/G] NM_017423 GALNT7 EXON Missense_V271I exm434300 4 174216642 [T/C] NM_017423 GALNT7 EXON Nonsense_R284X exm434304 4 174216988 [A/T] NM_017423 GALNT7 EXON Missense_K320M exm434306 4 174219273 [A/T] NM_017423 GALNT7 EXON Missense_C325S exm2274057 4 174235242 [A/G] NM_017423 GALNT7 EXON Missense_K508R exm434331 4 174235304 [A/C] NM_017423 GALNT7 EXON Missense_P529T exm434365 4 174254281 [T/C] NM_001130689,NM_002129,NM_001130688 HMGB2,HMGB2,HMGB2 EXON Missense_V79I,Missense_V79I,Missense_V79I exm434372 4 174254781 [T/C] NM_001130689,NM_002129,NM_001130688 HMGB2,HMGB2,HMGB2 EXON Missense_N7S,Missense_N7S,Missense_N7S exm2240682 4 174312441 [A/G] NM_007281 SCRG1 EXON Missense_P42L exm434404 4 174312480 [T/C] NM_007281 SCRG1 EXON Missense_Y29C exm2269881 4 174447389 [T/C] exm2256490 4 175060620 [T/C] exm434488 4 175160211 [T/A] NM_012180 FBXO8 EXON Missense_T236S exm434494 4 175180938 [T/C] NM_012180 FBXO8 EXON Missense_N123S exm434504 4 175184131 [A/C] NM_012180 FBXO8 EXON Missense_I38S exm434507 4 175184250 [A/G] NM_012180 FBXO8 EXON Silent exm2069893 4 175220223 [A/G] NM_001040157,NM_001145314 CEP44,CEP44 EXON Silent,Silent exm434513 4 175220304 [A/G] NM_001040157,NM_001145314 CEP44,CEP44 EXON Missense_R11Q,Missense_R11Q exm434518 4 175223314 [T/C] NM_001040157,NM_001145314 CEP44,CEP44 EXON Missense_R72C,Missense_R72C exm434519 4 175223315 [A/G] NM_001040157,NM_001145314 CEP44,CEP44 EXON Missense_R72H,Missense_R72H exm434520 4 175224861 [A/G] NM_001040157,NM_001145314 CEP44,CEP44 EXON Missense_R82H,Missense_R82H exm434523 4 175224966 [T/C] NM_001040157,NM_001145314 CEP44,CEP44 EXON Missense_M117T,Missense_M117T exm434524 4 175224971 [A/C] NM_001040157,NM_001145314 CEP44,CEP44 EXON Missense_K119Q,Missense_K119Q exm434525 4 175224972 [A/C] NM_001040157,NM_001145314 CEP44,CEP44 EXON Missense_K119T,Missense_K119T exm434528 4 175225452 [A/G] NM_001040157,NM_001145314 CEP44,CEP44 EXON Missense_G147S,Missense_G147S exm434534 4 175229856 [T/C] NM_001040157,NM_001145314 CEP44,CEP44 EXON Missense_I175T,Missense_I175T exm434535 4 175229858 [T/C] NM_001040157,NM_001145314 CEP44,CEP44 EXON Missense_R176C,Missense_R176C exm434536 4 175229859 [A/G] NM_001040157,NM_001145314 CEP44,CEP44 EXON Missense_R176H,Missense_R176H exm434539 4 175229888 [A/G] NM_001040157,NM_001145314 CEP44,CEP44 EXON Missense_I186V,Missense_I186V exm434542 4 175231002 [T/A] NM_001040157,NM_001145314 CEP44,CEP44 EXON Missense_D227V,Missense_D227V exm434548 4 175231175 [G/C] NM_001040157,NM_001145314 CEP44,CEP44 EXON Missense_L285V,Missense_L285V exm-rs6852435 4 175300779 [T/C] exm434570 4 175413148 [T/G] NM_001145816,NM_001256307,NM_001256301,NM_001256305,NM_000860,NM_001256306 HPGD,HPGD,HPGD,HPGD,HPGD,HPGD EXON Silent,Missense_Q133K,Missense_Q133K,Silent,Missense_Q254K,Missense_Q186K exm2069921 4 175413228 [T/C] NM_001145816,NM_001256307,NM_001256301,NM_001256305,NM_000860,NM_001256306 HPGD,HPGD,HPGD,HPGD,HPGD,HPGD EXON Synonymous_Q172Q,Missense_N106S,Missense_N106S,Silent,Missense_N227S,Missense_N159S exm434576 4 175414314 [T/C] NM_001145816,NM_001256307,NM_001256301,NM_001256305,NM_000860,NM_001256306 HPGD,HPGD,HPGD,HPGD,HPGD,HPGD EXON Silent,Missense_Y96C,Missense_Y96C,Silent,Missense_Y217C,Missense_Y149C exm434579 4 175414330 [T/C] NM_001145816,NM_001256307,NM_001256301,NM_001256305,NM_000860,NM_001256306 HPGD,HPGD,HPGD,HPGD,HPGD,HPGD EXON Silent,Missense_D91N,Missense_D91N,Silent,Missense_D212N,Missense_D144N exm434584 4 175414444 [T/G] NM_001145816,NM_001256307,NM_001256301,NM_001256305,NM_000860,NM_001256306 HPGD,HPGD,HPGD,HPGD,HPGD,HPGD EXON Silent,Missense_S53R,Missense_S53R,Silent,Missense_S174R,Missense_S106R exm434586 4 175416699 [T/C] NM_001145816,NM_001256307,NM_001256301,NM_001256305,NM_000860,NM_001256306 HPGD,HPGD,HPGD,HPGD,HPGD,HPGD EXON Synonymous_A166A,Synonymous_A45A,Synonymous_A45A,Silent,Synonymous_A166A,Synonymous_A98A exm2256491 4 175416708 [A/G] NM_001145816,NM_001256307,NM_001256301,NM_001256305,NM_000860,NM_001256306 HPGD,HPGD,HPGD,HPGD,HPGD,HPGD EXON Synonymous_R163R,Synonymous_R42R,Synonymous_R42R,Silent,Synonymous_R163R,Synonymous_R95R exm434589 4 175416764 [T/C] NM_001145816,NM_001256307,NM_001256301,NM_001256305,NM_000860,NM_001256306 HPGD,HPGD,HPGD,HPGD,HPGD,HPGD EXON Missense_V145I,Missense_V24I,Missense_V24I,Silent,Missense_V145I,Missense_V77I exm2261665 4 175428308 [T/C] NM_001145816,NM_001256307,NM_001256301,NM_001256305,NM_000860,NM_001256306 HPGD,HPGD,HPGD,HPGD,HPGD,HPGD Silent,Silent,Silent,Silent,Silent,Silent exm434601 4 175439226 [T/C] NM_001145816,NM_001256307,NM_001256301,NM_001256305,NM_000860,NM_001256306 HPGD,HPGD,HPGD,HPGD,HPGD,HPGD EXON Missense_T74A,Silent,Silent,Missense_T74A,Missense_T74A,Silent exm434611 4 175443551 [A/C] NM_001145816,NM_001256307,NM_001256301,NM_001256305,NM_000860,NM_001256306 HPGD,HPGD,HPGD,HPGD,HPGD,HPGD EXON Missense_G18C,Silent,Silent,Missense_G18C,Missense_G18C,Missense_G18C exm434616 4 175564987 [T/C] NM_006529,NM_001042543 GLRA3,GLRA3 EXON Missense_V449I,Missense_V434I exm434618 4 175565043 [A/G] NM_006529,NM_001042543 GLRA3,GLRA3 EXON Missense_T430I,Missense_T415I exm434621 4 175565121 [T/C] NM_006529,NM_001042543 GLRA3,GLRA3 EXON Missense_N404S,Missense_N389S exm434625 4 175577907 [T/C] NM_006529,NM_001042543 GLRA3,GLRA3 EXON Missense_R368H,Silent exm2269883 4 175617314 [T/C] NM_006529,NM_001042543 GLRA3,GLRA3 Silent,Silent exm434649 4 175649759 [A/G] NM_006529,NM_001042543 GLRA3,GLRA3 EXON Missense_P120S,Missense_P120S exm434651 4 175649798 [T/C] NM_006529,NM_001042543 GLRA3,GLRA3 EXON Missense_A107T,Missense_A107T exm434664 4 175709975 [T/C] NM_006529,NM_001042543 GLRA3,GLRA3 EXON Missense_N64S,Missense_N64S exm434668 4 175710093 [T/A] NM_006529,NM_001042543 GLRA3,GLRA3 EXON Missense_L25M,Missense_L25M exm434670 4 175749904 [A/G] NM_006529,NM_001042543 GLRA3,GLRA3 EXON Missense_A20V,Missense_A20V exm2265798 4 175871449 [A/G] NM_001130704,NM_001130703,NM_001130705,NM_014269 ADAM29,ADAM29,ADAM29,ADAM29 Silent,Silent,Silent,Silent exm434694 4 175897104 [T/C] NM_001130704,NM_001130703,NM_001130705,NM_014269 ADAM29,ADAM29,ADAM29,ADAM29 EXON Missense_T143I,Missense_T143I,Missense_T143I,Missense_T143I exm434695 4 175897139 [A/G] NM_001130704,NM_001130703,NM_001130705,NM_014269 ADAM29,ADAM29,ADAM29,ADAM29 EXON Missense_E155K,Missense_E155K,Missense_E155K,Missense_E155K exm2069984 4 175897196 [G/C] NM_001130704,NM_001130703,NM_001130705,NM_014269 ADAM29,ADAM29,ADAM29,ADAM29 EXON Missense_R174G,Missense_R174G,Missense_R174G,Missense_R174G exm434700 4 175897314 [A/G] NM_001130704,NM_001130703,NM_001130705,NM_014269 ADAM29,ADAM29,ADAM29,ADAM29 EXON Missense_R213H,Missense_R213H,Missense_R213H,Missense_R213H exm434716 4 175897719 [A/G] NM_001130704,NM_001130703,NM_001130705,NM_014269 ADAM29,ADAM29,ADAM29,ADAM29 EXON Missense_R348H,Missense_R348H,Missense_R348H,Missense_R348H exm434731 4 175898410 [T/C] NM_001130704,NM_001130703,NM_001130705,NM_014269 ADAM29,ADAM29,ADAM29,ADAM29 EXON Synonymous_D578D,Synonymous_D578D,Synonymous_D578D,Synonymous_D578D exm2256494 4 175898410 [T/C] NM_001130704,NM_001130703,NM_001130705,NM_014269 ADAM29,ADAM29,ADAM29,ADAM29 EXON Synonymous_D578D,Synonymous_D578D,Synonymous_D578D,Synonymous_D578D exm434734 4 175898555 [T/C] NM_001130704,NM_001130703,NM_001130705,NM_014269 ADAM29,ADAM29,ADAM29,ADAM29 EXON Missense_P627S,Missense_P627S,Missense_P627S,Missense_P627S exm434744 4 175898811 [T/C] NM_001130704,NM_001130703,NM_001130705,NM_014269 ADAM29,ADAM29,ADAM29,ADAM29 EXON Missense_T712I,Missense_T712I,Missense_T712I,Missense_T712I exm434745 4 175898844 [A/G] NM_001130704,NM_001130703,NM_001130705,NM_014269 ADAM29,ADAM29,ADAM29,ADAM29 EXON Missense_R723H,Missense_R723H,Missense_R723H,Missense_R723H exm434749 4 175898879 [T/C] NM_001130704,NM_001130703,NM_001130705,NM_014269 ADAM29,ADAM29,ADAM29,ADAM29 EXON Missense_W735R,Missense_W735R,Missense_W735R,Missense_W735R exm434751 4 175898894 [T/C] NM_001130704,NM_001130703,NM_001130705,NM_014269 ADAM29,ADAM29,ADAM29,ADAM29 EXON Nonsense_Q740X,Nonsense_Q740X,Nonsense_Q740X,Nonsense_Q740X exm2069995 4 175898900 [T/C] NM_001130704,NM_001130703,NM_001130705,NM_014269 ADAM29,ADAM29,ADAM29,ADAM29 EXON Nonsense_Q742X,Nonsense_Q742X,Nonsense_Q742X,Nonsense_Q742X exm434758 4 175898940 [T/C] NM_001130704,NM_001130703,NM_001130705,NM_014269 ADAM29,ADAM29,ADAM29,ADAM29 EXON Missense_M755T,Missense_M755T,Missense_M755T,Missense_M755T exm434763 4 175898983 [A/T] NM_001130704,NM_001130703,NM_001130705,NM_014269 ADAM29,ADAM29,ADAM29,ADAM29 EXON Missense_Q769H,Missense_Q769H,Missense_Q769H,Missense_Q769H exm2240695 4 175899103 [T/G] NM_001130704,NM_001130703,NM_001130705,NM_014269 ADAM29,ADAM29,ADAM29,ADAM29 EXON Missense_M809I,Missense_M809I,Missense_M809I,Missense_M809I exm2269991 4 176391372 [T/C] exm2269884 4 176538654 [T/C] exm2269885 4 176721793 [T/C] NM_201591,NM_005277,NM_001261447,NR_048571,NM_201592 GPM6A,GPM6A,GPM6A,GPM6A,GPM6A Silent,Silent,Silent,Silent,Silent exm-rs7687921 4 176859026 [A/T] NM_005277,NM_001261447,NR_048571,NM_201592 GPM6A,GPM6A,GPM6A,GPM6A Silent,Silent,Silent,Silent exm434831 4 177017678 [T/G] NM_170710,NM_181265 WDR17,WDR17 EXON Missense_W3L,Silent exm434856 4 177041206 [A/G] NM_170710,NM_181265 WDR17,WDR17 EXON Missense_V190M,Missense_V166M exm434859 4 177046444 [T/C] NM_170710,NM_181265 WDR17,WDR17 EXON Missense_A267V,Missense_A243V exm434860 4 177046446 [T/G] NM_170710,NM_181265 WDR17,WDR17 EXON Missense_A268S,Missense_A244S exm2275780 4 177046455 [A/G] NM_170710,NM_181265 WDR17,WDR17 EXON Missense_V271I,Missense_V247I exm434868 4 177049919 [A/G] NM_170710,NM_181265 WDR17,WDR17 EXON Missense_N298S,Missense_N274S exm434872 4 177049982 [A/G] NM_170710,NM_181265 WDR17,WDR17 EXON Missense_H319R,Missense_H295R exm434883 4 177052871 [T/G] NM_170710,NM_181265 WDR17,WDR17 EXON Missense_W384C,Missense_W360C exm434892 4 177056338 [G/C] NM_170710,NM_181265 WDR17,WDR17 EXON Missense_T417S,Missense_T393S exm434893 4 177056340 [A/G] NM_170710,NM_181265 WDR17,WDR17 EXON Missense_I418V,Missense_I394V exm434895 4 177056356 [T/C] NM_170710,NM_181265 WDR17,WDR17 EXON Missense_I423T,Missense_I399T exm434896 4 177056360 [A/C] NM_170710,NM_181265 WDR17,WDR17 EXON Missense_N424K,Missense_N400K exm434898 4 177058704 [A/G] NM_170710,NM_181265 WDR17,WDR17 EXON Missense_R458Q,Missense_R434Q exm434903 4 177061070 [C/G] NM_170710,NM_181265 WDR17,WDR17 EXON Missense_A487P,Missense_A463P exm434907 4 177063174 [A/C] NM_170710,NM_181265 WDR17,WDR17 EXON Missense_K519Q,Missense_K495Q exm434908 4 177063186 [T/G] NM_170710,NM_181265 WDR17,WDR17 EXON Missense_A523S,Missense_A499S exm434911 4 177067151 [A/T] NM_170710,NM_181265 WDR17,WDR17 EXON Missense_M536K,Missense_M512K exm434917 4 177069285 [A/G] NM_170710,NM_181265 WDR17,WDR17 EXON Missense_T590A,Missense_T566A exm434926 4 177069472 [A/G] NM_170710,NM_181265 WDR17,WDR17 EXON Missense_G652D,Missense_G628D exm434931 4 177071231 [A/T] NM_170710,NM_181265 WDR17,WDR17 EXON Nonsense_C719X,Nonsense_C695X exm2240698 4 177071245 [A/G] NM_170710,NM_181265 WDR17,WDR17 EXON Missense_R724K,Missense_R700K exm434941 4 177073026 [A/G] NM_170710,NM_181265 WDR17,WDR17 EXON Missense_A814T,Missense_A790T exm434946 4 177077248 [T/A] NM_170710,NM_181265 WDR17,WDR17 EXON Missense_I851F,Missense_I827F exm434947 4 177077250 [T/G] NM_170710,NM_181265 WDR17,WDR17 EXON Missense_I851M,Missense_I827M exm434954 4 177082069 [C/G] NM_170710,NM_181265 WDR17,WDR17 EXON Missense_C913S,Missense_C889S exm434955 4 177082099 [T/C] NM_170710,NM_181265 WDR17,WDR17 EXON Missense_S923F,Missense_S899F exm434960 4 177083272 [A/G] NM_170710,NM_181265 WDR17,WDR17 EXON Missense_D957N,Missense_D933N exm434963 4 177083302 [T/C] NM_170710,NM_181265 WDR17,WDR17 EXON Missense_H967Y,Missense_H943Y exm434968 4 177084327 [A/G] NM_170710,NM_181265 WDR17,WDR17 EXON Missense_R982H,Missense_R958H exm434970 4 177084329 [A/G] NM_170710,NM_181265 WDR17,WDR17 EXON Missense_G983R,Missense_G959R exm434976 4 177087291 [T/C] NM_170710,NM_181265 WDR17,WDR17 EXON Missense_Y1027H,Silent exm434982 4 177089845 [A/C] NM_170710,NM_181265 WDR17,WDR17 EXON Missense_L1044M,Missense_L1005M exm434984 4 177089929 [A/G] NM_170710,NM_181265 WDR17,WDR17 EXON Missense_D1072N,Missense_D1033N exm435004 4 177098223 [T/G] NM_170710,NM_181265 WDR17,WDR17 EXON Missense_R1194L,Missense_R1155L exm435006 4 177098285 [A/G] NM_170710,NM_181265 WDR17,WDR17 EXON Missense_A1215T,Missense_A1176T exm435012 4 177100617 [G/C] NM_170710,NM_181265 WDR17,WDR17 EXON Missense_V1286L,Missense_V1247L exm435015 4 177100644 [A/G] NM_170710,NM_181265 WDR17,WDR17 EXON Missense_A1295T,Missense_A1256T exm435018 4 177100714 [A/G] NM_170710,NM_181265 WDR17,WDR17 EXON Missense_R1318Q,Missense_R1279Q exm-IND4-177343003 4 177106010 [D/I] NM_144644 SPATA4 EXON exm435027 4 177106011 [A/C] NM_144644 SPATA4 EXON Nonsense_E280X exm435031 4 177109269 [T/C] NM_144644 SPATA4 Silent exm435032 4 177109270 [A/G] NM_144644 SPATA4 EXON Missense_P269S exm435036 4 177109326 [A/G] NM_144644 SPATA4 EXON Missense_A250V exm435039 4 177113779 [T/C] NM_144644 SPATA4 EXON Synonymous_P229P exm435048 4 177113963 [A/G] NM_144644 SPATA4 EXON Missense_T168M exm435052 4 177114130 [T/C] NM_144644 SPATA4 EXON Missense_Y149C exm435063 4 177114699 [A/C] NM_144644 SPATA4 EXON Missense_F85V exm435066 4 177116535 [T/A] NM_144644 SPATA4 EXON Missense_Q60L exm435077 4 177136755 [T/C] NM_080874 ASB5 EXON Missense_R329Q exm435081 4 177136830 [T/G] NM_080874 ASB5 EXON Missense_Y304S exm435100 4 177142363 [C/G] NM_080874 ASB5 EXON Missense_L205V exm435101 4 177142377 [T/C] NM_080874 ASB5 EXON Missense_H200R exm435112 4 177142646 [T/G] NM_080874 ASB5 EXON Missense_L164M exm435114 4 177142678 [T/C] NM_080874 ASB5 EXON Missense_E153G exm435115 4 177142702 [A/G] NM_080874 ASB5 EXON Missense_S145F exm435117 4 177142710 [G/C] NM_080874 ASB5 EXON Missense_N142K exm435130 4 177146444 [T/C] NM_080874 ASB5 EXON Missense_R82H exm435133 4 177146483 [A/G] NM_080874 ASB5 EXON Missense_A69V exm435141 4 177190115 [T/G] NM_080874 ASB5 EXON Missense_K49Q exm435142 4 177190117 [T/C] NM_080874 ASB5 EXON Missense_R48H exm435162 4 177249434 [A/G] NM_021928 SPCS3 EXON Missense_V166I exm2265895 4 177322096 [A/G] exm2269886 4 177400028 [T/G] exm-rs12715977 4 177495414 [A/C] exm435173 4 177605168 [T/C] NM_005429 VEGFC EXON Missense_R391H exm435184 4 177608534 [A/C] NM_005429 VEGFC EXON Missense_V318F exm435187 4 177608981 [T/C] NM_005429 VEGFC EXON Missense_G269R exm435190 4 177632698 [T/C] NM_005429 VEGFC EXON Missense_Q220R exm435194 4 177632758 [C/G] NM_005429 VEGFC EXON Missense_T200R exm435203 4 177649090 [T/C] NM_005429 VEGFC EXON Missense_M132V exm435208 4 177650736 [T/A] NM_005429 VEGFC EXON Missense_E104D exm435211 4 177650824 [C/G] NM_005429 VEGFC EXON Missense_P75R exm435212 4 177650866 [T/C] NM_005429 VEGFC EXON Missense_R61Q exm435213 4 177650876 [T/C] NM_005429 VEGFC EXON Missense_E58K exm435215 4 177713326 [A/T] NM_005429 VEGFC EXON Missense_E47V exm2256500 4 178028186 [A/G] exm-rs6552216 4 178112004 [T/C] exm2261669 4 178128842 [T/C] exm2265800 4 178167074 [A/G] exm435230 4 178231223 [T/C] NM_018248 NEIL3 EXON Missense_A39V exm435243 4 178256906 [A/G] NM_018248 NEIL3 EXON Missense_A115T exm435244 4 178256913 [G/C] NM_018248 NEIL3 EXON Missense_P117R exm2274058 4 178256920 [C/G] NM_018248 NEIL3 EXON Missense_L119F exm435246 4 178256958 [A/T] NM_018248 NEIL3 EXON Missense_D132V exm435247 4 178256959 [C/G] NM_018248 NEIL3 EXON Missense_D132E exm2070211 4 178257443 [G/C] NM_018248 NEIL3 EXON Missense_L199V exm2240707 4 178257452 [A/G] NM_018248 NEIL3 EXON Missense_S202G exm435271 4 178262784 [A/G] NM_018248 NEIL3 EXON Missense_H286R exm435272 4 178262796 [A/G] NM_018248 NEIL3 EXON Missense_C290Y exm435278 4 178272607 [T/C] NM_018248 NEIL3 EXON Missense_R315W exm435279 4 178272608 [A/G] NM_018248 NEIL3 EXON Missense_R315Q exm435282 4 178272700 [A/G] NM_018248 NEIL3 EXON Missense_I346V exm435289 4 178274639 [T/C] NM_018248 NEIL3 EXON Missense_T406I exm435292 4 178274750 [T/C] NM_018248 NEIL3 EXON Missense_P443L exm435295 4 178274819 [A/C] NM_018248 NEIL3 EXON Missense_K466T exm2070231 4 178274840 [T/C] NM_018248 NEIL3 EXON Missense_S473L exm435303 4 178281712 [T/C] NM_018248 NEIL3 EXON Missense_R506C exm435306 4 178281754 [A/G] NM_018248 NEIL3 EXON Missense_G520R exm435309 4 178283446 [T/G] NM_018248 NEIL3 EXON Missense_A547S exm435310 4 178283474 [A/G] NM_018248 NEIL3 EXON Missense_H556R exm435311 4 178283483 [A/G] NM_018248 NEIL3 EXON Missense_R559H exm435317 4 178283570 [A/G] NM_018248 NEIL3 EXON Missense_N588S exm-rs1395479 4 178318191 [A/C] exm435332 4 178352938 [A/G] NM_001171988,NM_000027,NR_033655 AGA,AGA,AGA EXON Missense_T312I,Missense_T322I,Silent exm435338 4 178355549 [A/G] NM_001171988,NM_000027,NR_033655 AGA,AGA,AGA EXON Missense_R255C,Missense_R265C,Silent exm435350 4 178357453 [A/G] NM_001171988,NM_000027,NR_033655 AGA,AGA,AGA EXON Synonymous_N225N,Synonymous_N225N,Silent exm2070249 4 178359918 [G/C] NM_001171988,NM_000027,NR_033655 AGA,AGA,AGA EXON Missense_C163S,Missense_C163S,Silent exm435360 4 178359924 [T/C] NM_001171988,NM_000027,NR_033655 AGA,AGA,AGA EXON Missense_R161Q,Missense_R161Q,Silent exm435362 4 178359960 [G/C] NM_001171988,NM_000027,NR_033655 AGA,AGA,AGA EXON Missense_T149S,Missense_T149S,Silent exm435363 4 178359970 [A/C] NM_001171988,NM_000027,NR_033655 AGA,AGA,AGA EXON Missense_L146V,Missense_L146V,Silent exm435366 4 178360748 [C/G] NM_001171988,NM_000027,NR_033655 AGA,AGA,AGA EXON Missense_L126V,Missense_L126V,Silent exm435369 4 178360811 [T/G] NM_001171988,NM_000027,NR_033655 AGA,AGA,AGA EXON Missense_L105I,Missense_L105I,Silent exm435374 4 178361432 [T/C] NM_001171988,NM_000027,NR_033655 AGA,AGA,AGA EXON Missense_M92I,Missense_M92I,Silent exm435388 4 178363496 [A/C] NM_001171988,NM_000027,NR_033655 AGA,AGA,AGA EXON Missense_V12L,Missense_V12L,Silent exm435390 4 178363520 [T/G] NM_001171988,NM_000027,NR_033655 AGA,AGA,AGA EXON Missense_K4Q,Missense_K4Q,Silent exm2265801 4 178801018 [A/G] NR_028342 LOC285501 Silent exm2269993 4 178995242 [T/C] exm-rs2702414 4 179399523 [A/G] exm2256505 4 179482360 [A/G] exm2265896 4 179989221 [A/G] exm-rs17067123 4 180048362 [T/C] exm2265803 4 180280410 [A/G] exm-rs3911610 4 180472174 [T/C] exm2269994 4 180487431 [T/G] exm-rs2383393 4 180664653 [A/G] exm2264076 4 180802775 [A/C] exm2269995 4 181288587 [T/G] exm2256509 4 181460127 [A/G] exm2261674 4 182066471 [T/C] NR_033918 LINC00290 Silent exm2264077 4 182293083 [A/C] exm-rs7672826 4 182399695 [A/G] exm2264078 4 182537084 [A/C] exm-rs4299631 4 182615625 [T/C] exm2261675 4 182944838 [A/G] exm435412 4 183245255 [A/G] NM_001080477 TENM3 EXON Missense_A28T exm435417 4 183267926 [T/G] NM_001080477 TENM3 EXON Missense_D119Y exm2256514 4 183268010 [T/C] NM_001080477 TENM3 EXON Synonymous_L147L exm2256515 4 183272312 [T/C] NM_001080477 TENM3 Silent exm2240724 4 183549905 [A/G] NM_001080477 TENM3 EXON Missense_R284Q exm-rs6841520 4 183553379 [A/G] NM_001080477 TENM3 Silent exm435453 4 183594275 [T/C] NM_001080477 TENM3 EXON Missense_I410T exm2070461 4 183600871 [A/G] NM_001080477 TENM3 EXON Missense_R460Q exm435457 4 183600886 [T/C] NM_001080477 TENM3 EXON Missense_T465M exm435460 4 183600897 [A/G] NM_001080477 TENM3 EXON Missense_G469R exm435463 4 183600915 [A/G] NM_001080477 TENM3 EXON Missense_V475I exm435466 4 183600933 [A/G] NM_001080477 TENM3 EXON Missense_G481S exm435468 4 183601017 [A/G] NM_001080477 TENM3 EXON Missense_T509A exm435471 4 183601414 [T/A] NM_001080477 TENM3 EXON Missense_E517D exm435473 4 183601448 [A/G] NM_001080477 TENM3 EXON Missense_V529I exm435480 4 183601761 [A/G] NM_001080477 TENM3 EXON Missense_G569S exm435485 4 183601819 [C/G] NM_001080477 TENM3 EXON Missense_G588A exm435494 4 183603051 [A/G] NM_001080477 TENM3 EXON Missense_N640S exm435504 4 183609367 [T/C] NM_001080477 TENM3 EXON Missense_T695M exm435505 4 183609373 [A/G] NM_001080477 TENM3 EXON Missense_R697H exm435527 4 183651357 [T/G] NM_001080477 TENM3 EXON Missense_A864S exm2070486 4 183658159 [A/G] NM_001080477 TENM3 EXON Missense_A1056T exm435544 4 183659649 [A/G] NM_001080477 TENM3 EXON Missense_M1111V exm435547 4 183664379 [A/G] NM_001080477 TENM3 EXON Missense_V1146M exm435557 4 183673011 [A/G] NM_001080477 TENM3 EXON Missense_V1230I exm435572 4 183675659 [A/G] NM_001080477 TENM3 EXON Missense_R1380Q exm2070514 4 183675803 [A/G] NM_001080477 TENM3 EXON Missense_R1428Q exm435582 4 183675926 [T/C] NM_001080477 TENM3 EXON Missense_A1469V exm435583 4 183676061 [T/C] NM_001080477 TENM3 EXON Missense_A1514V exm435584 4 183676069 [A/G] NM_001080477 TENM3 EXON Missense_T1517A exm435585 4 183676100 [A/G] NM_001080477 TENM3 EXON Missense_N1527S exm435596 4 183694642 [A/G] NM_001080477 TENM3 EXON Missense_R1637H exm435613 4 183696245 [A/G] NM_001080477 TENM3 EXON Missense_E1748G exm435616 4 183696295 [T/C] NM_001080477 TENM3 EXON Missense_R1765C exm435625 4 183710445 [A/G] NM_001080477 TENM3 EXON Missense_G1835D exm435626 4 183710456 [A/G] NM_001080477 TENM3 EXON Missense_E1839K exm435629 4 183713487 [T/C] NM_001080477 TENM3 EXON Missense_R1888C exm435646 4 183713987 [C/G] NM_001080477 TENM3 EXON Missense_E2054D exm2256516 4 183714101 [T/C] NM_001080477 TENM3 EXON Synonymous_Y2092Y exm435663 4 183714418 [A/G] NM_001080477 TENM3 EXON Missense_R2198H exm435669 4 183714507 [T/C] NM_001080477 TENM3 EXON Missense_R2228C exm2070534 4 183714585 [A/C] NM_001080477 TENM3 EXON Missense_T2254P exm435701 4 183721107 [A/G] NM_001080477 TENM3 EXON Missense_R2568H exm435706 4 183721275 [C/G] NM_001080477 TENM3 EXON Missense_A2624G exm435714 4 183721418 [A/G] NM_001080477 TENM3 EXON Missense_V2672I exm2265806 4 183777997 [A/G] exm2256517 4 183812618 [T/C] NM_001921,NM_001012732 DCTD,DCTD EXON Synonymous_P157P,Synonymous_P168P exm435735 4 183836077 [A/G] NM_001921,NM_001012732 DCTD,DCTD EXON Synonymous_Y81Y,Synonymous_Y92Y exm435738 4 183836148 [T/C] NM_001921,NM_001012732 DCTD,DCTD EXON Missense_N58D,Missense_N69D exm435741 4 183836196 [T/C] NM_001921,NM_001012732 DCTD,DCTD EXON Missense_V42M,Missense_V53M exm435789 4 184175037 [A/G] NM_024949 WWC2 EXON Missense_V361I exm435797 4 184180853 [A/T] NM_024949 WWC2 EXON Missense_T420S exm435802 4 184182124 [T/C] NM_024949 WWC2 EXON Missense_R450W exm435803 4 184182125 [A/G] NM_024949 WWC2 EXON Missense_R450Q exm435827 4 184186853 [T/G] NM_024949 WWC2 EXON Missense_M684I exm435830 4 184186899 [A/G] NM_024949 WWC2 EXON Missense_A700T exm2261676 4 184189457 [A/G] NM_024949 WWC2 Silent exm435836 4 184190140 [A/G] NM_024949 WWC2 EXON Missense_V742I exm435842 4 184190210 [T/C] NM_024949 WWC2 EXON Missense_L765S exm435845 4 184190233 [T/G] NM_024949 WWC2 EXON Missense_A773S exm435849 4 184190300 [A/G] NM_024949 WWC2 EXON Missense_R795Q exm435854 4 184192278 [T/G] NM_024949 WWC2 EXON Missense_V816F exm435861 4 184192366 [A/C] NM_024949 WWC2 EXON Missense_N845T exm435863 4 184192386 [A/G] NM_024949 WWC2 EXON Missense_I852V exm435871 4 184203886 [G/C] NM_024949 WWC2 EXON Missense_D904H exm435874 4 184203952 [T/A] NM_024949 WWC2 EXON Missense_L926I exm435877 4 184204010 [A/G] NM_024949 WWC2 EXON Missense_N945S exm435878 4 184204037 [T/C] NM_024949 WWC2 EXON Missense_P954L exm2240734 4 184205415 [A/G] NM_024949 WWC2 EXON Missense_D974N exm435882 4 184205430 [T/C] NM_024949 WWC2 EXON Missense_R979C exm435884 4 184205482 [A/G] NM_024949 WWC2 EXON Missense_S996N exm435886 4 184205542 [A/G] NM_024949 WWC2 EXON Missense_R1016K exm435899 4 184210648 [T/C] NM_024949 WWC2 EXON Missense_R1082C exm435900 4 184210649 [T/G] NM_024949 WWC2 EXON Missense_R1082L exm435901 4 184210655 [A/G] NM_024949 WWC2 EXON Missense_N1084S exm435902 4 184210670 [T/C] NM_024949 WWC2 EXON Missense_A1089V exm435905 4 184233502 [C/G] NM_024949 WWC2 EXON Missense_Q1131H exm435907 4 184233566 [A/G] NM_024949 WWC2 EXON Missense_V1153M exm435909 4 184233588 [A/G] NM_024949 WWC2 EXON Missense_S1160N exm435910 4 184236868 [A/G] NM_024949 WWC2 EXON Missense_A1189T exm2273399 4 184238670 [G/C] NM_024949 WWC2 EXON Silent exm435922 4 184240974 [A/G] NM_024949,NM_001111319 WWC2,CLDN22 EXON Silent,Missense_A133V exm435929 4 184241281 [T/G] NM_024949,NM_001111319 WWC2,CLDN22 EXON Silent,Missense_P31T exm435931 4 184242959 [G/C] NM_001185149 CLDN24 EXON Missense_Q207H exm435933 4 184243528 [A/G] NM_001185149 CLDN24 EXON Missense_L18F exm2264079 4 184322137 [A/C] exm435945 4 184366755 [A/G] NM_017632 CDKN2AIP EXON Missense_T114A exm435953 4 184367324 [A/G] NM_017632 CDKN2AIP EXON Missense_A163T exm435957 4 184367371 [T/G] NM_017632 CDKN2AIP EXON Missense_C178W exm435969 4 184367561 [T/G] NM_017632 CDKN2AIP EXON Missense_A242S exm435970 4 184367605 [T/G] NM_017632 CDKN2AIP EXON Missense_M256I exm2256519 4 184367638 [T/A] NM_017632 CDKN2AIP EXON Synonymous_G267G exm435975 4 184367686 [A/T] NM_017632 CDKN2AIP EXON Missense_Q283H exm435991 4 184367993 [A/G] NM_017632 CDKN2AIP EXON Missense_K386E exm436019 4 184431843 [T/C] NM_001564 ING2 EXON Missense_A194V exm-rs10012103 4 184531409 [A/G] exm2240741 4 184560790 [A/G] NM_152682 RWDD4 EXON Silent exm436047 4 184585165 [G/C] NM_199053,NM_021942 TRAPPC11,TRAPPC11 EXON Missense_V49L,Missense_V49L exm436055 4 184587424 [C/G] NM_199053,NM_021942 TRAPPC11,TRAPPC11 EXON Missense_E73D,Missense_E73D exm436069 4 184588242 [T/A] NM_199053,NM_021942 TRAPPC11,TRAPPC11 EXON Missense_V135D,Missense_V135D exm2265807 4 184600601 [A/G] NM_199053,NM_021942 TRAPPC11,TRAPPC11 EXON Synonymous_A309A,Synonymous_A309A exm436095 4 184600605 [G/C] NM_199053,NM_021942 TRAPPC11,TRAPPC11 EXON Missense_L311V,Missense_L311V exm436099 4 184601365 [G/C] NM_199053,NM_021942 TRAPPC11,TRAPPC11 EXON Missense_A353G,Missense_A353G exm436115 4 184605197 [T/C] NM_199053,NM_021942 TRAPPC11,TRAPPC11 EXON Missense_V426A,Missense_V426A exm436119 4 184605347 [A/G] NM_199053,NM_021942 TRAPPC11,TRAPPC11 EXON Missense_Y446C,Missense_Y446C exm436126 4 184605957 [T/G] NM_199053,NM_021942 TRAPPC11,TRAPPC11 EXON Missense_K510N,Missense_K510N exm436133 4 184606497 [A/G] NM_199053,NM_021942 TRAPPC11,TRAPPC11 EXON Missense_R568Q,Missense_R568Q exm436138 4 184612553 [G/C] NM_199053,NM_021942 TRAPPC11,TRAPPC11 EXON Missense_V660L,Missense_V660L exm436141 4 184614208 [A/C] NM_199053,NM_021942 TRAPPC11,TRAPPC11 EXON Missense_E715D,Missense_E715D exm436142 4 184614210 [G/C] NM_199053,NM_021942 TRAPPC11,TRAPPC11 EXON Missense_A716G,Missense_A716G exm436143 4 184614232 [G/C] NM_199053,NM_021942 TRAPPC11,TRAPPC11 EXON Missense_F723L,Missense_F723L exm436150 4 184614791 [T/C] NM_199053,NM_021942 TRAPPC11,TRAPPC11 EXON Missense_P763S,Missense_P763S exm436154 4 184615071 [A/C] NM_199053,NM_021942 TRAPPC11,TRAPPC11 EXON Synonymous_G796G,Synonymous_G796G exm436158 4 184615102 [A/G] NM_199053,NM_021942 TRAPPC11,TRAPPC11 EXON Missense_V807M,Missense_V807M exm436159 4 184615117 [A/C] NM_199053,NM_021942 TRAPPC11,TRAPPC11 EXON Missense_T812P,Missense_T812P exm436160 4 184615144 [A/G] NM_199053,NM_021942 TRAPPC11,TRAPPC11 EXON Missense_A821T,Missense_A821T exm436161 4 184615166 [T/C] NM_199053,NM_021942 TRAPPC11,TRAPPC11 EXON Missense_V828A,Missense_V828A exm436163 4 184615191 [A/G] NM_199053,NM_021942 TRAPPC11,TRAPPC11 EXON Synonymous_Q836Q,Synonymous_Q836Q exm436165 4 184615778 [A/C] NM_199053,NM_021942 TRAPPC11,TRAPPC11 EXON Missense_R844S,Missense_R844S exm436177 4 184618936 [C/G] NM_199053,NM_021942 TRAPPC11,TRAPPC11 EXON Missense_Q933H,Missense_Q933H exm436192 4 184626187 [A/G] NM_199053,NM_021942 TRAPPC11,TRAPPC11 EXON Missense_V1007M,Missense_V1007M exm436195 4 184627996 [G/C] NM_199053,NM_021942 TRAPPC11,TRAPPC11 EXON Missense_P1031R,Missense_P1031R exm436200 4 184629581 [A/G] NM_199053,NM_021942 TRAPPC11,TRAPPC11 EXON Silent,Missense_G1071S exm436206 4 184629680 [A/G] NM_199053,NM_021942 TRAPPC11,TRAPPC11 EXON Silent,Missense_T1104A exm436211 4 184633795 [T/C] NM_199053,NM_021942 TRAPPC11,TRAPPC11 EXON Silent,Missense_X1134R exm2265899 4 184851037 [A/G] NM_020225 STOX2 Silent exm436242 4 184930646 [A/G] NM_020225 STOX2 EXON Missense_A219T exm436249 4 184930710 [A/G] NM_020225 STOX2 EXON Missense_S240N exm436251 4 184930752 [T/C] NM_020225 STOX2 EXON Missense_S254L exm436252 4 184930953 [A/G] NM_020225 STOX2 EXON Missense_D321G exm436259 4 184931154 [A/G] NM_020225 STOX2 EXON Missense_H388R exm436263 4 184931259 [T/G] NM_020225 STOX2 EXON Missense_M423R exm436264 4 184931351 [G/C] NM_020225 STOX2 EXON Missense_P454A exm436266 4 184931431 [G/C] NM_020225 STOX2 EXON Missense_R480S exm436280 4 184931643 [T/A] NM_020225 STOX2 EXON Missense_Y551F exm436284 4 184931688 [T/C] NM_020225 STOX2 EXON Missense_P566L exm436286 4 184931696 [A/G] NM_020225 STOX2 EXON Missense_A569T exm436303 4 184932032 [A/G] NM_020225 STOX2 EXON Missense_V681I exm436315 4 184932204 [A/G] NM_020225 STOX2 EXON Missense_R738Q exm2256521 4 184932481 [T/C] NM_020225 STOX2 EXON Synonymous_T830T exm436329 4 184932491 [A/G] NM_020225 STOX2 EXON Missense_S834G exm436332 4 184932575 [T/C] NM_020225 STOX2 EXON Missense_R862C exm436335 4 184938306 [A/G] NM_020225 STOX2 EXON Missense_A884T exm436339 4 184938360 [A/G] NM_020225 STOX2 EXON Missense_A902T exm436351 4 185012401 [T/C] NM_153343 ENPP6 EXON Missense_A418T exm2070780 4 185012425 [T/C] NM_153343 ENPP6 EXON Missense_V410M exm436356 4 185012491 [T/C] NM_153343 ENPP6 EXON Missense_V388I exm436384 4 185038053 [T/C] NM_153343 ENPP6 EXON Missense_G271R exm436385 4 185038055 [T/C] NM_153343 ENPP6 EXON Missense_R270H exm436389 4 185038161 [T/C] NM_153343 ENPP6 EXON Missense_V235I exm436391 4 185038169 [T/C] NM_153343 ENPP6 EXON Missense_R232H exm436394 4 185038943 [A/G] NM_153343 ENPP6 EXON Missense_T215I exm436434 4 185138905 [T/C] NM_153343 ENPP6 EXON Missense_R23H exm2269889 4 185227184 [T/C] exm436442 4 185309989 [A/G] NM_002199 IRF2 EXON Missense_R325W exm436444 4 185310015 [A/G] NM_002199 IRF2 EXON Missense_S316F exm436467 4 185329318 [A/T] NM_002199 IRF2 EXON Missense_I175F exm436485 4 185350160 [A/G] NM_002199 IRF2 EXON Missense_T20M exm436486 4 185350161 [T/A] NM_002199 IRF2 EXON Missense_T20S exm436491 4 185550431 [A/G] NM_004346,NM_032991 CASP3,CASP3 EXON Missense_H277Y,Missense_H277Y exm436505 4 185552247 [A/G] NM_004346,NM_032991 CASP3,CASP3 EXON Missense_A183V,Missense_A183V exm436514 4 185553427 [T/C] NM_004346,NM_032991 CASP3,CASP3 EXON Missense_R101H,Missense_R101H exm436521 4 185556561 [T/C] NM_004346,NM_032991 CASP3,CASP3 EXON Missense_H22R,Missense_H22R exm436538 4 185580557 [A/G] NM_152683 CCDC111 EXON Missense_T82A exm2070852 4 185580578 [T/G] NM_152683 CCDC111 EXON Missense_Y89D exm436541 4 185582941 [T/C] NM_152683 CCDC111 EXON Missense_H98Y exm436542 4 185582954 [T/C] NM_152683 CCDC111 EXON Missense_V102A exm436545 4 185587097 [A/T] NM_152683 CCDC111 EXON Missense_L145F exm436549 4 185587165 [A/G] NM_152683 CCDC111 EXON Missense_Q168R exm436551 4 185587186 [A/G] NM_152683 CCDC111 EXON Missense_H175R exm436559 4 185593387 [A/G] NM_152683 CCDC111 EXON Missense_D206G exm436565 4 185593551 [T/C] NM_152683 CCDC111 EXON Missense_P261S exm436568 4 185599394 [A/G] NM_152683 CCDC111 EXON Missense_T285A exm436570 4 185599413 [A/G] NM_152683 CCDC111 EXON Missense_R291Q exm436573 4 185599443 [A/G] NM_152683 CCDC111 EXON Missense_R301H exm436597 4 185612736 [G/C] NM_152683 CCDC111 Silent exm436599 4 185612821 [T/C] NM_152683 CCDC111 EXON Synonymous_C460C exm436605 4 185615727 [G/C] NM_152683,NM_024629 CCDC111,MLF1IP EXON Missense_Q493E,Silent exm436606 4 185615764 [A/C] NM_152683,NM_024629 CCDC111,MLF1IP EXON Missense_T505K,Silent exm436611 4 185615875 [A/G] NM_152683,NM_024629 CCDC111,MLF1IP EXON Missense_Y542C,Silent exm436616 4 185616486 [A/G] NM_024629 MLF1IP EXON Nonsense_R405X exm2070884 4 185616522 [T/C] NM_024629 MLF1IP EXON Missense_K393E exm436620 4 185618801 [T/C] NM_024629 MLF1IP EXON Synonymous_T381T exm436621 4 185618812 [T/C] NM_024629 MLF1IP EXON Missense_V378I exm436637 4 185623548 [T/C] NM_024629 MLF1IP EXON Missense_Y282C exm436638 4 185623558 [T/C] NM_024629 MLF1IP EXON Missense_A279T exm436639 4 185623579 [T/C] NM_024629 MLF1IP EXON Missense_K272E exm436641 4 185631241 [A/G] NM_024629 MLF1IP EXON Missense_T261I exm436645 4 185634130 [G/C] NM_024629 MLF1IP EXON Missense_R219T exm436646 4 185634143 [A/G] NM_024629 MLF1IP EXON Missense_S215P exm436647 4 185634144 [T/C] NM_024629 MLF1IP EXON Missense_I214M exm436653 4 185637663 [A/G] NM_024629 MLF1IP EXON Missense_A169V exm436655 4 185637699 [A/G] NM_024629 MLF1IP EXON Missense_I157T exm436662 4 185638307 [T/G] NM_024629 MLF1IP EXON Missense_K122Q exm2070906 4 185650152 [A/T] NM_024629 MLF1IP EXON Missense_D45V exm436685 4 185652115 [A/G] NM_024629 MLF1IP EXON Missense_R19C exm436689 4 185655170 [T/C] NM_024629 MLF1IP EXON Missense_G16D exm436690 4 185655171 [T/C] NM_024629 MLF1IP EXON Missense_G16S exm436696 4 185655214 [T/C] NM_024629 MLF1IP EXON Missense_M1I exm2273400 4 185678110 [A/G] NM_001995 ACSL1 EXON Silent exm436698 4 185678318 [A/C] NM_001995 ACSL1 EXON Missense_R686S exm2070913 4 185678376 [T/C] NM_001995 ACSL1 EXON Missense_N667S exm436699 4 185678380 [T/C] NM_001995 ACSL1 EXON Missense_D666N exm436701 4 185678418 [A/C] NM_001995 ACSL1 EXON Missense_V653G exm436707 4 185678998 [A/G] NM_001995 ACSL1 EXON Missense_S620L exm436714 4 185681557 [T/C] NM_001995 ACSL1 EXON Missense_R579Q exm436721 4 185683561 [A/T] NM_001995 ACSL1 EXON Synonymous_P546P exm436747 4 185689471 [T/C] NM_001995 ACSL1 EXON Missense_R376Q exm436754 4 185694275 [T/C] NM_001995 ACSL1 EXON Missense_N292S exm436764 4 185697684 [T/C] NM_001995 ACSL1 EXON Missense_R237Q exm436767 4 185697709 [T/C] NM_001995 ACSL1 EXON Missense_A229T exm436772 4 185698055 [A/G] NM_001995 ACSL1 EXON Missense_T187M exm436773 4 185698092 [T/C] NM_001995 ACSL1 EXON Missense_V175I exm436774 4 185698094 [A/C] NM_001995 ACSL1 EXON Missense_I174S exm2070949 4 185701503 [T/C] NM_001995 ACSL1 EXON Missense_A154T exm436799 4 185724475 [A/G] NM_001995 ACSL1 EXON Missense_A65V exm2269890 4 185767941 [T/C] NR_037867 LOC731424 Silent exm436815 4 185940174 [T/G] NM_001029887 HELT EXON Missense_R31L exm2275335 4 185940205 [A/C] NM_001029887 HELT EXON Nonsense_C41X exm436825 4 185940785 [A/C] NM_001029887 HELT EXON Missense_P91H exm436828 4 185940883 [G/C] NM_001029887 HELT EXON Missense_P124A exm436831 4 185940952 [G/C] NM_001029887 HELT EXON Missense_L147V exm436832 4 185940979 [T/C] NM_001029887 HELT EXON Missense_P156S exm436851 4 185941682 [A/G] NM_001029887 HELT EXON Missense_G247D exm2269997 4 185981436 [T/C] exm436881 4 186066296 [A/G] NM_001151 SLC25A4 EXON Missense_I164V exm436900 4 186084055 [A/G] NM_020827 KIAA1430 EXON Missense_T499M exm436902 4 186085219 [A/G] NM_020827 KIAA1430 EXON Missense_R479W exm436905 4 186085260 [T/C] NM_020827 KIAA1430 EXON Missense_H465R exm436911 4 186096938 [A/G] NM_020827 KIAA1430 Silent exm436912 4 186096969 [C/G] NM_020827 KIAA1430 EXON Missense_E431Q exm436926 4 186097190 [T/C] NM_020827 KIAA1430 EXON Missense_D357G exm436930 4 186111306 [A/G] NM_020827 KIAA1430 EXON Missense_L349F exm436932 4 186111347 [T/G] NM_020827 KIAA1430 EXON Missense_H335P exm436943 4 186111639 [T/C] NM_020827 KIAA1430 EXON Missense_T238A exm436946 4 186111746 [A/G] NM_020827 KIAA1430 EXON Missense_P202L exm436952 4 186111866 [A/G] NM_020827 KIAA1430 EXON Missense_I162T exm436966 4 186112180 [T/C] NM_020827 KIAA1430 EXON Missense_M57I exm436968 4 186112208 [T/G] NM_020827 KIAA1430 EXON Missense_T48K exm2269891 4 186117162 [T/C] NM_020827 KIAA1430 Silent exm436976 4 186180187 [T/C] NM_031953 SNX25 EXON Missense_H70Y exm436978 4 186185593 [T/C] NM_031953 SNX25 EXON Missense_H81Y exm436985 4 186185731 [T/C] NM_031953 SNX25 EXON Missense_R127C exm437005 4 186231836 [A/G] NM_031953 SNX25 EXON Missense_M240V exm2071008 4 186241915 [A/G] NM_031953 SNX25 EXON Missense_N294S exm437015 4 186241986 [A/G] NM_031953 SNX25 EXON Missense_E318K exm437023 4 186244872 [T/C] NM_031953 SNX25 EXON Missense_I392T exm437024 4 186244923 [A/C] NM_031953 SNX25 EXON Missense_A409D exm437040 4 186263196 [A/G] NM_031953 SNX25 EXON Missense_G541R exm2071019 4 186263218 [T/C] NM_031953 SNX25 EXON Missense_T548M exm437046 4 186267751 [A/G] NM_031953 SNX25 EXON Missense_I586V exm437050 4 186272616 [A/C] NM_031953 SNX25 EXON Missense_E609D exm437056 4 186272714 [T/C] NM_031953 SNX25 EXON Missense_L642S exm437062 4 186274646 [G/C] NM_031953 SNX25 EXON Missense_T661R exm437067 4 186274751 [A/G] NM_031953 SNX25 EXON Missense_R696Q exm437069 4 186283092 [T/C] NM_031953 SNX25 EXON Missense_T725I exm437072 4 186283137 [A/G] NM_031953 SNX25 EXON Missense_N740S exm437074 4 186283185 [T/C] NM_031953 SNX25 EXON Missense_T756I exm437075 4 186283193 [A/G] NM_031953 SNX25 EXON Missense_R759G exm437090 4 186294065 [T/C] NM_018409 LRP2BP EXON Missense_V250M exm437091 4 186294074 [T/C] NM_018409 LRP2BP EXON Missense_G247R exm437096 4 186294143 [A/G] NM_018409 LRP2BP EXON Missense_R224W exm2071049 4 186295495 [A/G] NM_018409 LRP2BP EXON Nonsense_R151X exm437116 4 186298086 [A/G] NM_018409 LRP2BP EXON Nonsense_R65X exm2071055 4 186318347 [A/G] NM_181726 ANKRD37 EXON Missense_N24S exm437136 4 186318377 [T/C] NM_181726 ANKRD37 EXON Missense_P34L exm437137 4 186318394 [A/G] NM_181726 ANKRD37 EXON Missense_G40R exm437138 4 186318406 [A/G] NM_181726 ANKRD37 EXON Missense_A44T exm437152 4 186320857 [T/C] NM_181726,NR_028085,NM_018359 ANKRD37,UFSP2,UFSP2 EXON Missense_C136R,Silent,Silent exm437156 4 186320890 [A/G] NM_181726,NR_028085,NM_018359 ANKRD37,UFSP2,UFSP2 EXON Missense_G147R,Silent,Silent exm437157 4 186320906 [C/G] NM_181726,NR_028085,NM_018359 ANKRD37,UFSP2,UFSP2 EXON Missense_T152S,Silent,Silent exm437189 4 186329175 [T/C] NR_028085,NM_018359 UFSP2,UFSP2 EXON Silent,Missense_G346R exm437195 4 186329489 [G/C] NR_028085,NM_018359 UFSP2,UFSP2 EXON Silent,Missense_C311S exm2071080 4 186335007 [T/C] NR_028085,NM_018359 UFSP2,UFSP2 EXON Silent,Missense_N235S exm437220 4 186339620 [T/C] NR_028085,NM_018359 UFSP2,UFSP2 EXON Silent,Missense_K103R exm437226 4 186339821 [T/C] NR_028085,NM_018359 UFSP2,UFSP2 EXON Silent,Missense_I62M exm437241 4 186353135 [T/G] NM_001114357 C4orf47 Silent exm437247 4 186353337 [A/G] NM_001114357 C4orf47 EXON Missense_S101N exm437251 4 186357255 [A/G] NM_001114357 C4orf47 EXON Missense_A126T exm437263 4 186366181 [A/G] NM_001114357 C4orf47 EXON Missense_A260T exm437265 4 186366256 [A/G] NM_001114357 C4orf47 EXON Missense_E285K exm437276 4 186379286 [T/A] NM_152775,NM_001145411 CCDC110,CCDC110 EXON Missense_L819M,Missense_L782M exm437277 4 186379291 [A/G] NM_152775,NM_001145411 CCDC110,CCDC110 EXON Missense_S817L,Missense_S780L exm437278 4 186379295 [G/C] NM_152775,NM_001145411 CCDC110,CCDC110 EXON Missense_A816P,Missense_A779P exm437279 4 186379328 [T/C] NM_152775,NM_001145411 CCDC110,CCDC110 EXON Missense_E805K,Missense_E768K exm437288 4 186379567 [T/C] NM_152775,NM_001145411 CCDC110,CCDC110 EXON Missense_H725R,Missense_H688R exm437290 4 186379618 [A/G] NM_152775,NM_001145411 CCDC110,CCDC110 EXON Missense_V708A,Missense_V671A exm437293 4 186379735 [T/C] NM_152775,NM_001145411 CCDC110,CCDC110 EXON Missense_Q669R,Missense_Q632R exm437301 4 186379899 [G/C] NM_152775,NM_001145411 CCDC110,CCDC110 EXON Missense_I614M,Missense_I577M exm437302 4 186379955 [T/G] NM_152775,NM_001145411 CCDC110,CCDC110 EXON Missense_L596I,Missense_L559I exm437305 4 186380129 [A/G] NM_152775,NM_001145411 CCDC110,CCDC110 EXON Nonsense_Q538X,Nonsense_Q501X exm437309 4 186380243 [A/C] NM_152775,NM_001145411 CCDC110,CCDC110 EXON Missense_Y500D,Missense_Y463D exm437313 4 186380315 [A/C] NM_152775,NM_001145411 CCDC110,CCDC110 EXON Missense_Y476D,Missense_Y439D exm437314 4 186380333 [T/C] NM_152775,NM_001145411 CCDC110,CCDC110 EXON Missense_I470V,Missense_I433V exm437316 4 186380426 [T/C] NM_152775,NM_001145411 CCDC110,CCDC110 EXON Missense_V439M,Missense_V402M exm437317 4 186380455 [T/G] NM_152775,NM_001145411 CCDC110,CCDC110 EXON Missense_Q429P,Missense_Q392P exm437318 4 186380477 [T/C] NM_152775,NM_001145411 CCDC110,CCDC110 EXON Missense_E422K,Missense_E385K exm437321 4 186380515 [A/G] NM_152775,NM_001145411 CCDC110,CCDC110 EXON Missense_S409F,Missense_S372F exm437324 4 186380597 [T/G] NM_152775,NM_001145411 CCDC110,CCDC110 EXON Missense_L382M,Missense_L345M exm437326 4 186380617 [A/G] NM_152775,NM_001145411 CCDC110,CCDC110 EXON Missense_S375F,Missense_S338F exm437334 4 186380822 [T/C] NM_152775,NM_001145411 CCDC110,CCDC110 EXON Missense_I307V,Missense_I270V exm437335 4 186380846 [A/T] NM_152775,NM_001145411 CCDC110,CCDC110 EXON Missense_L299M,Missense_L262M exm437337 4 186380893 [A/G] NM_152775,NM_001145411 CCDC110,CCDC110 EXON Missense_M283T,Missense_M246T exm437343 4 186381043 [T/C] NM_152775,NM_001145411 CCDC110,CCDC110 EXON Missense_G233E,Missense_G196E exm437347 4 186381115 [T/G] NM_152775,NM_001145411 CCDC110,CCDC110 EXON Missense_P209Q,Missense_P172Q exm437355 4 186381338 [T/C] NM_152775,NM_001145411 CCDC110,CCDC110 EXON Missense_D135N,Missense_D98N exm437356 4 186381382 [T/C] NM_152775,NM_001145411 CCDC110,CCDC110 EXON Missense_N120S,Missense_N83S exm437357 4 186381392 [C/G] NM_152775,NM_001145411 CCDC110,CCDC110 EXON Missense_P117A,Missense_P80A exm437360 4 186382219 [T/C] NM_152775,NM_001145411 CCDC110,CCDC110 EXON Missense_R111H,Silent exm437362 4 186382253 [A/G] NM_152775,NM_001145411 CCDC110,CCDC110 EXON Missense_F100L,Silent exm437367 4 186383820 [C/G] NM_152775,NM_001145411 CCDC110,CCDC110 EXON Missense_Q72E,Missense_Q72E exm437372 4 186384203 [T/G] NM_152775,NM_001145411 CCDC110,CCDC110 EXON Missense_E39A,Missense_E39A exm437393 4 186423637 [A/G] NM_001257962,NR_047562,NM_001257963,NM_014476,NM_001114107 PDLIM3,PDLIM3,PDLIM3,PDLIM3,PDLIM3 EXON Synonymous_V214V,Silent,Synonymous_V135V,Synonymous_V302V,Synonymous_V254V exm437406 4 186427735 [A/G] NM_001257962,NR_047562,NM_001257963,NM_014476,NM_001114107 PDLIM3,PDLIM3,PDLIM3,PDLIM3,PDLIM3 EXON Missense_T157I,Silent,Missense_T78I,Missense_T245I,Missense_T197I exm437409 4 186427754 [T/C] NM_001257962,NR_047562,NM_001257963,NM_014476,NM_001114107 PDLIM3,PDLIM3,PDLIM3,PDLIM3,PDLIM3 EXON Missense_D151N,Silent,Missense_D72N,Missense_D239N,Missense_D191N exm437410 4 186427772 [C/G] NM_001257962,NR_047562,NM_001257963,NM_014476,NM_001114107 PDLIM3,PDLIM3,PDLIM3,PDLIM3,PDLIM3 EXON Missense_V145L,Silent,Missense_V66L,Missense_V233L,Missense_V185L exm437435 4 186444600 [T/C] NM_001257962,NR_047562,NM_001257963,NM_014476,NM_001114107 PDLIM3,PDLIM3,PDLIM3,PDLIM3,PDLIM3 EXON Synonymous_R82R,Silent,Silent,Synonymous_R82R,Synonymous_R82R exm2256525 4 186446224 [T/C] NM_001257962,NR_047562,NM_001257963,NM_014476,NM_001114107 PDLIM3,PDLIM3,PDLIM3,PDLIM3,PDLIM3 EXON Synonymous_A65A,Silent,Silent,Synonymous_A65A,Synonymous_A65A exm437438 4 186446250 [T/C] NM_001257962,NR_047562,NM_001257963,NM_014476,NM_001114107 PDLIM3,PDLIM3,PDLIM3,PDLIM3,PDLIM3 EXON Missense_T57A,Silent,Silent,Missense_T57A,Missense_T57A exm437446 4 186456560 [A/G] NM_001257962,NR_047562,NM_001257963,NM_014476,NM_001114107 PDLIM3,PDLIM3,PDLIM3,PDLIM3,PDLIM3 EXON Missense_P10L,Silent,Missense_P10L,Missense_P10L,Missense_P10L exm437454 4 186508808 [T/G] NM_003603,NM_001145675,NM_001145674,NM_021069,NM_001145670,NM_001145672,NM_001270771,NM_001145671,NM_001145673 SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2 EXON Missense_F658L,Missense_F484L,Missense_F996L,Missense_F1092L,Missense_F636L,Missense_F653L,Missense_F1192L,Missense_F723L,Missense_F816L exm2240771 4 186510931 [A/G] NM_003603,NM_001145675,NM_001145674,NM_021069,NM_001145670,NM_001145672,NM_001270771,NM_001145671,NM_001145673 SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2 EXON Missense_A614V,Missense_A440V,Missense_A952V,Missense_A1048V,Missense_A592V,Missense_A609V,Missense_A1148V,Missense_A679V,Missense_A772V exm2275782 4 186515050 [A/C] NM_003603,NM_001145675,NM_001145674,NM_021069,NM_001145670,NM_001145672,NM_001270771,NM_001145671,NM_001145673 SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2 EXON Missense_G608W,Missense_G434W,Missense_G946W,Missense_G1042W,Missense_G586W,Missense_G603W,Missense_G1142W,Missense_G673W,Missense_G766W exm437467 4 186532960 [T/C] NM_003603,NM_001145675,NM_001145674,NM_021069,NM_001145670,NM_001145672,NM_001270771,NM_001145671,NM_001145673 SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2 EXON Missense_R586G,Missense_R412G,Missense_R924G,Missense_R1020G,Missense_R564G,Missense_R581G,Missense_R1120G,Missense_R651G,Missense_R744G exm437468 4 186532996 [A/G] NM_003603,NM_001145675,NM_001145674,NM_021069,NM_001145670,NM_001145672,NM_001270771,NM_001145671,NM_001145673 SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2 EXON Missense_P574S,Missense_P400S,Missense_P912S,Missense_P1008S,Missense_P552S,Missense_P569S,Missense_P1108S,Missense_P639S,Missense_P732S exm437485 4 186541260 [T/C] NM_003603,NM_001145675,NM_001145674,NM_021069,NM_001145670,NM_001145672,NM_001270771,NM_001145671,NM_001145673 SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2 EXON Missense_G416E,Missense_G242E,Missense_G754E,Missense_G850E,Missense_G394E,Missense_G411E,Missense_G950E,Missense_G481E,Missense_G574E exm437488 4 186541301 [A/G] NM_003603,NM_001145675,NM_001145674,NM_021069,NM_001145670,NM_001145672,NM_001270771,NM_001145671,NM_001145673 SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2 EXON Synonymous_R402R,Synonymous_R228R,Synonymous_R740R,Synonymous_R836R,Synonymous_R380R,Synonymous_R397R,Synonymous_R936R,Synonymous_R467R,Synonymous_R560R exm2256526 4 186541301 [A/G] NM_003603,NM_001145675,NM_001145674,NM_021069,NM_001145670,NM_001145672,NM_001270771,NM_001145671,NM_001145673 SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2 EXON Synonymous_R402R,Synonymous_R228R,Synonymous_R740R,Synonymous_R836R,Synonymous_R380R,Synonymous_R397R,Synonymous_R936R,Synonymous_R467R,Synonymous_R560R exm437494 4 186544194 [T/C] NM_003603,NM_001145675,NM_001145674,NM_021069,NM_001145670,NM_001145672,NM_001270771,NM_001145671,NM_001145673 SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2 EXON Silent,Silent,Missense_D697N,Missense_D793N,Silent,Silent,Missense_D893N,Silent,Silent exm437498 4 186544311 [T/C] NM_003603,NM_001145675,NM_001145674,NM_021069,NM_001145670,NM_001145672,NM_001270771,NM_001145671,NM_001145673 SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2 EXON Silent,Silent,Missense_N658D,Missense_N754D,Silent,Silent,Missense_N854D,Silent,Silent exm2275783 4 186544654 [A/G] NM_003603,NM_001145675,NM_001145674,NM_021069,NM_001145670,NM_001145672,NM_001270771,NM_001145671,NM_001145673 SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2 EXON Silent,Silent,Synonymous_S543S,Synonymous_S639S,Silent,Silent,Synonymous_S739S,Silent,Silent exm437513 4 186544768 [T/G] NM_003603,NM_001145675,NM_001145674,NM_021069,NM_001145670,NM_001145672,NM_001270771,NM_001145671,NM_001145673 SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2 EXON Silent,Silent,Missense_D505E,Missense_D601E,Silent,Silent,Missense_D701E,Silent,Silent exm437518 4 186544880 [C/G] NM_003603,NM_001145675,NM_001145674,NM_021069,NM_001145670,NM_001145672,NM_001270771,NM_001145671,NM_001145673 SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2 EXON Silent,Silent,Missense_P468R,Missense_P564R,Silent,Silent,Missense_P664R,Silent,Silent exm2256527 4 186544972 [A/G] NM_003603,NM_001145675,NM_001145674,NM_021069,NM_001145670,NM_001145672,NM_001270771,NM_001145671,NM_001145673 SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2 EXON Silent,Silent,Synonymous_P437P,Synonymous_P533P,Silent,Silent,Synonymous_P633P,Silent,Silent exm437529 4 186544981 [T/C] NM_003603,NM_001145675,NM_001145674,NM_021069,NM_001145670,NM_001145672,NM_001270771,NM_001145671,NM_001145673 SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2 EXON Silent,Silent,Missense_M434I,Missense_M530I,Silent,Silent,Missense_M630I,Silent,Silent exm2071168 4 186545106 [T/G] NM_003603,NM_001145675,NM_001145674,NM_021069,NM_001145670,NM_001145672,NM_001270771,NM_001145671,NM_001145673 SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2 EXON Silent,Silent,Missense_L393M,Missense_L489M,Silent,Silent,Missense_L589M,Silent,Silent exm2071171 4 186545283 [T/C] NM_003603,NM_001145675,NM_001145674,NM_021069,NM_001145670,NM_001145672,NM_001270771,NM_001145671,NM_001145673 SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2 EXON Silent,Silent,Missense_V334I,Missense_V430I,Silent,Silent,Missense_V530I,Silent,Silent exm2071177 4 186548084 [T/C] NM_003603,NM_001145675,NM_001145674,NM_021069,NM_001145670,NM_001145672,NM_001270771,NM_001145671,NM_001145673 SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2 EXON Missense_S368N,Missense_S194N,Missense_S179N,Missense_S275N,Missense_S346N,Missense_S363N,Missense_S375N,Missense_S433N,Missense_S526N exm437567 4 186567935 [T/G] NM_003603,NM_001145675,NM_001145674,NM_021069,NM_001145670,NM_001145672,NM_001270771,NM_001145671,NM_001145673 SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2 EXON Missense_H237N,Missense_H110N,Missense_H95N,Missense_H191N,Missense_H262N,Missense_H260N,Missense_H291N,Missense_H277N,Missense_H370N exm437579 4 186572981 [A/G] NM_003603,NM_001145675,NM_001145674,NM_021069,NM_001145670,NM_001145672,NM_001270771,NM_001145671,NM_001145673 SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2 EXON Synonymous_D158D,Synonymous_D31D,Silent,Synonymous_D112D,Silent,Synonymous_D181D,Synonymous_D212D,Synonymous_D198D,Synonymous_D291D exm437581 4 186573817 [T/C] NM_003603,NM_001145675,NM_001145674,NM_021069,NM_001145670,NM_001145672,NM_001270771,NM_001145671,NM_001145673 SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2 EXON Synonymous_P157P,Synonymous_P30P,Synonymous_P30P,Synonymous_P111P,Synonymous_P197P,Synonymous_P180P,Synonymous_P211P,Synonymous_P197P,Synonymous_P290P exm437601 4 186583323 [T/G] NM_003603,NM_021069,NM_001145670,NM_001145672,NM_001270771,NM_001145671,NM_001145673 SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2 EXON Missense_P56H,Missense_P10H,Missense_P96H,Missense_P79H,Missense_P110H,Missense_P96H,Missense_P189H exm437602 4 186583330 [A/G] NM_003603,NM_021069,NM_001145670,NM_001145672,NM_001270771,NM_001145671,NM_001145673 SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2 EXON Missense_F54L,Missense_F8L,Missense_F94L,Missense_F77L,Missense_F108L,Missense_F94L,Missense_F187L exm437606 4 186583365 [T/C] NM_003603,NM_021069,NM_001145670,NM_001145672,NM_001270771,NM_001145671,NM_001145673 SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2 EXON Missense_G42D,Silent,Missense_G82D,Missense_G65D,Missense_G96D,Missense_G82D,Missense_G175D exm-rs5018568 4 186617593 [T/C] NM_003603,NM_021069,NM_001145670,NM_001145672,NM_001270771,NM_001145671,NM_001145673 SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2 Silent,Silent,Silent,Silent,Silent,Silent,Silent exm2256528 4 186631388 [A/G] NM_003603,NM_021069,NM_001145670,NM_001145672,NM_001270771,NM_001145671,NM_001145673 SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2 Silent,Silent,Silent,Silent,Silent,Silent,Silent exm2265809 4 186959365 [A/G] exm437624 4 186997767 [A/C] NM_003265 TLR3 EXON Silent exm2071205 4 186997807 [C/G] NM_003265 TLR3 EXON Missense_G12R exm437633 4 186997949 [A/C] NM_003265 TLR3 EXON Missense_T59N exm437646 4 187000029 [T/G] NM_003265 TLR3 EXON Missense_L159F exm437649 4 187000106 [T/C] NM_003265 TLR3 EXON Missense_A185V exm437659 4 187003678 [A/G] NM_003265 TLR3 EXON Missense_D280N exm437662 4 187003729 [G/C] NM_003265 TLR3 EXON Missense_L297V exm437664 4 187003759 [T/G] NM_003265 TLR3 EXON Missense_Y307D exm2275784 4 187003797 [A/C] NM_003265 TLR3 EXON Missense_H319Q exm437671 4 187004021 [A/G] NM_003265 TLR3 EXON Missense_R394Q exm437672 4 187004074 [T/C] NM_003265 TLR3 EXON Missense_L412F exm437674 4 187004135 [A/G] NM_003265 TLR3 EXON Missense_H432R exm2277278 4 187004217 [A/C] NM_003265 TLR3 EXON Missense_F459L exm437685 4 187004500 [T/C] NM_003265 TLR3 EXON Missense_P554S exm437700 4 187004767 [A/C] NM_003265 TLR3 EXON Missense_R643S exm437701 4 187004768 [A/G] NM_003265 TLR3 EXON Missense_R643H exm437709 4 187005049 [A/T] NM_003265 TLR3 EXON Missense_S737T exm437713 4 187005064 [T/C] NM_003265 TLR3 EXON Missense_L742F exm437722 4 187005854 [A/C] NM_003265 TLR3 EXON Missense_I848L exm437727 4 187005912 [A/G] NM_003265 TLR3 EXON Missense_R867Q exm437744 4 187074833 [A/G] NM_015398,NM_001006655 FAM149A,FAM149A EXON Missense_K41E,Missense_K41E exm437751 4 187075633 [T/C] NM_015398,NM_001006655 FAM149A,FAM149A EXON Missense_S75F,Missense_S75F exm437756 4 187075701 [T/G] NM_015398,NM_001006655 FAM149A,FAM149A EXON Missense_A98S,Missense_A98S exm2256529 4 187075751 [T/C] NM_015398,NM_001006655 FAM149A,FAM149A EXON Synonymous_D114D,Synonymous_D114D exm437762 4 187077200 [A/T] NM_015398,NM_001006655 FAM149A,FAM149A EXON Missense_W144R,Missense_W144R exm437763 4 187077203 [T/C] NM_015398,NM_001006655 FAM149A,FAM149A EXON Missense_R145C,Missense_R145C exm437764 4 187077204 [A/G] NM_015398,NM_001006655 FAM149A,FAM149A EXON Missense_R145H,Missense_R145H exm437766 4 187077206 [A/G] NM_015398,NM_001006655 FAM149A,FAM149A EXON Missense_K146E,Missense_K146E exm437771 4 187077234 [A/G] NM_015398,NM_001006655 FAM149A,FAM149A EXON Missense_R155H,Missense_R155H exm437775 4 187077278 [A/G] NM_015398,NM_001006655 FAM149A,FAM149A EXON Missense_V170I,Missense_V170I exm437776 4 187077291 [T/C] NM_015398,NM_001006655 FAM149A,FAM149A EXON Missense_M174T,Missense_M174T exm437779 4 187078745 [A/G] NM_015398,NM_001006655 FAM149A,FAM149A EXON Missense_K201E,Missense_K201E exm437780 4 187078749 [T/C] NM_015398,NM_001006655 FAM149A,FAM149A EXON Missense_V202A,Missense_V202A exm437786 4 187078785 [A/G] NM_015398,NM_001006655 FAM149A,FAM149A EXON Missense_H214R,Missense_H214R exm437802 4 187084023 [T/G] NM_015398,NM_001006655 FAM149A,FAM149A EXON Missense_Y252D,Missense_Y252D exm437803 4 187084086 [T/C] NM_015398,NM_001006655 FAM149A,FAM149A EXON Missense_F273L,Missense_F273L exm437812 4 187084634 [T/C] NM_015398,NM_001006655 FAM149A,FAM149A EXON Missense_P297L,Missense_P297L exm437814 4 187084649 [A/G] NM_015398,NM_001006655 FAM149A,FAM149A EXON Missense_R302Q,Missense_R302Q exm437816 4 187084729 [T/C] NM_015398,NM_001006655 FAM149A,FAM149A EXON Missense_S329P,Missense_S329P exm437817 4 187084737 [A/C] NM_015398,NM_001006655 FAM149A,FAM149A EXON Missense_R331S,Missense_R331S exm437818 4 187084751 [A/G] NM_015398,NM_001006655 FAM149A,FAM149A EXON Missense_N336S,Missense_N336S exm437819 4 187084753 [A/G] NM_015398,NM_001006655 FAM149A,FAM149A EXON Missense_I337V,Missense_I337V exm437822 4 187084765 [A/G] NM_015398,NM_001006655 FAM149A,FAM149A EXON Missense_E341K,Missense_E341K exm2071259 4 187086544 [T/C] NM_015398,NM_001006655 FAM149A,FAM149A EXON Missense_R364W,Missense_R364W exm437832 4 187086562 [A/C] NM_015398,NM_001006655 FAM149A,FAM149A EXON Missense_L370I,Missense_L370I exm437836 4 187086607 [T/C] NM_015398,NM_001006655 FAM149A,FAM149A EXON Missense_R385C,Missense_R385C exm437837 4 187086608 [A/G] NM_015398,NM_001006655 FAM149A,FAM149A EXON Missense_R385H,Missense_R385H exm437839 4 187088147 [A/G] NM_015398,NM_001006655 FAM149A,FAM149A EXON Missense_R397H,Missense_R397H exm437840 4 187088170 [A/G] NM_015398,NM_001006655 FAM149A,FAM149A EXON Missense_G405S,Missense_G405S exm2274059 4 187088183 [T/C] NM_015398,NM_001006655 FAM149A,FAM149A EXON Missense_S409L,Missense_S409L exm437842 4 187088215 [T/C] NM_015398,NM_001006655 FAM149A,FAM149A EXON Missense_R420W,Missense_R420W exm437844 4 187088242 [A/T] NM_015398,NM_001006655 FAM149A,FAM149A EXON Missense_T429S,Missense_T429S exm437846 4 187088248 [T/C] NM_015398,NM_001006655 FAM149A,FAM149A EXON Missense_R431W,Missense_R431W exm437852 4 187088399 [T/G] NM_015398,NM_001006655 FAM149A,FAM149A EXON Missense_G453V,Missense_G453V exm437853 4 187088410 [T/G] NM_015398,NM_001006655 FAM149A,FAM149A EXON Missense_L457V,Missense_L457V exm2261680 4 187091644 [A/C] NM_015398,NM_001006655 FAM149A,FAM149A Silent,Silent exm437857 4 187093124 [T/C] NM_015398,NM_001006655 FAM149A,FAM149A EXON Missense_F478L,Missense_F478L exm437864 4 187113041 [G/C] NM_207352 CYP4V2 EXON Missense_L22V exm437879 4 187117196 [A/G] NM_207352 CYP4V2 EXON Missense_M123V exm437880 4 187117229 [T/G] NM_207352 CYP4V2 EXON Nonsense_G134X exm437888 4 187118221 [A/G] NM_207352 CYP4V2 EXON Missense_I181V exm437895 4 187118692 [A/G] NM_207352 CYP4V2 EXON Missense_A204T exm437896 4 187118720 [A/G] NM_207352 CYP4V2 EXON Missense_S213N exm437900 4 187120211 [A/C] NM_207352 CYP4V2 EXON Missense_Q259K exm-rs3736455 4 187122319 [T/G] NM_207352 CYP4V2 EXON Synonymous_A270A exm437905 4 187122332 [A/G] NM_207352 CYP4V2 EXON Missense_E275K exm437909 4 187122411 [A/C] NM_207352 CYP4V2 EXON Missense_D301A exm437918 4 187130031 [A/G] NM_207352 CYP4V2 EXON Missense_R368H exm437919 4 187130042 [A/G] NM_207352 CYP4V2 EXON Missense_V372I exm437921 4 187130112 [T/C] NM_207352 CYP4V2 EXON Missense_V395A exm437933 4 187130349 [A/G] NM_207352 CYP4V2 EXON Missense_R443Q exm437935 4 187130360 [A/G] NM_207352 CYP4V2 EXON Missense_E447K exm437939 4 187130406 [T/C] NM_207352 CYP4V2 EXON Missense_A462V exm437954 4 187153290 [T/C] NM_000892 KLKB1 EXON Missense_T23I exm437956 4 187153432 [A/C] NM_000892 KLKB1 EXON Missense_D70E exm437961 4 187157943 [T/C] NM_000892 KLKB1 EXON Nonsense_R113X exm437968 4 187158034 [A/G] NM_000892 KLKB1 EXON Missense_S143N exm437975 4 187159453 [A/G] NM_000892 KLKB1 EXON Missense_A178T exm437979 4 187171404 [A/C] NM_000892 KLKB1 EXON Missense_H202Q exm2071318 4 187171405 [A/G] NM_000892 KLKB1 EXON Missense_M203V exm437980 4 187171421 [A/C] NM_000892 KLKB1 EXON Missense_H208P exm437981 4 187171427 [A/C] NM_000892 KLKB1 EXON Missense_A210E exm437985 4 187171487 [A/T] NM_000892 KLKB1 EXON Missense_I230N exm437995 4 187172386 [T/C] NM_000892 KLKB1 EXON Missense_L258F exm437997 4 187172420 [G/C] NM_000892 KLKB1 EXON Missense_S269C exm437998 4 187172422 [A/G] NM_000892 KLKB1 EXON Missense_T270A exm438002 4 187172665 [T/C] NM_000892 KLKB1 EXON Missense_P298L exm438003 4 187172703 [T/G] NM_000892 KLKB1 EXON Missense_F311V exm438006 4 187172728 [A/G] NM_000892 KLKB1 EXON Missense_Q319R exm438009 4 187172787 [A/G] NM_000892 KLKB1 EXON Missense_D339N exm438011 4 187172931 [A/G] NM_000892 KLKB1 EXON Missense_D354N exm438012 4 187172943 [A/G] NM_000892 KLKB1 EXON Missense_T358A exm438018 4 187173012 [T/G] NM_000892 KLKB1 EXON Missense_S381A exm438028 4 187175753 [A/C] NM_000892 KLKB1 EXON Missense_Q442P exm438031 4 187175771 [A/G] NM_000892 KLKB1 EXON Missense_Y448C exm438042 4 187177217 [A/G] NM_000892 KLKB1 EXON Missense_G521R exm438043 4 187177230 [T/C] NM_000892 KLKB1 EXON Missense_S525L exm438046 4 187178437 [A/G] NM_000892 KLKB1 EXON Missense_C548Y exm438048 4 187178473 [A/G] NM_000892 KLKB1 EXON Missense_R560Q exm438050 4 187178478 [A/G] NM_000892 KLKB1 EXON Missense_V562I exm438056 4 187179221 [A/G] NM_000892 KLKB1 EXON Missense_R591H exm438057 4 187179306 [G/C] NM_000892 KLKB1 EXON Missense_D619E exm438060 4 187179320 [A/C] NM_000892 KLKB1 EXON Missense_K624T exm438075 4 187192903 [T/C] NM_000128 F11 EXON Missense_P66S exm438084 4 187195347 [T/G] NM_000128 F11 EXON Nonsense_E135X exm438090 4 187195398 [A/G] NM_000128 F11 EXON Missense_A152T exm2071351 4 187196994 [A/G] NM_000128 F11 EXON Missense_K180R exm438113 4 187201207 [A/G] NM_000128 F11 EXON Missense_S266N exm438115 4 187201219 [A/T] NM_000128 F11 EXON Missense_K270I exm438119 4 187201412 [T/C] NM_000128 F11 EXON Missense_F301L exm438123 4 187201527 [T/G] NM_000128 F11 EXON Missense_C339F exm438155 4 187207613 [A/G] NM_000128,NR_033900 F11,LOC285441 EXON Missense_V509I,Silent exm438178 4 187209733 [A/G] NM_000128,NR_033900 F11,LOC285441 EXON Missense_V615M,Silent exm438181 4 187209748 [G/C] NM_000128,NR_033900 F11,LOC285441 EXON Missense_E620Q,Silent exm-rs13148903 4 187257576 [A/G] NR_033900 LOC285441 Silent exm2264080 4 187394590 [A/C] NR_033900,NR_033901 LOC285441,LOC285441 Silent,Silent exm438184 4 187454863 [T/C] NM_005958 MTNR1A EXON Missense_V345I exm438187 4 187454894 [T/A] NM_005958 MTNR1A EXON Missense_K334N exm438189 4 187454920 [T/C] NM_005958 MTNR1A EXON Missense_D326N exm438196 4 187455099 [A/G] NM_005958 MTNR1A EXON Missense_A266V exm438197 4 187455100 [T/C] NM_005958 MTNR1A EXON Missense_A266T exm438206 4 187455261 [A/G] NM_005958 MTNR1A EXON Missense_I212T exm438215 4 187455399 [T/C] NM_005958 MTNR1A EXON Missense_G166E exm2240784 4 187455426 [A/G] NM_005958 MTNR1A EXON Missense_A157V exm438222 4 187455504 [T/C] NM_005958 MTNR1A EXON Missense_H131R exm438225 4 187455538 [T/C] NM_005958 MTNR1A EXON Missense_G120S exm438229 4 187455609 [T/C] NM_005958 MTNR1A EXON Missense_G96D exm438239 4 187476360 [A/G] NM_005958 MTNR1A EXON Missense_R54W exm438240 4 187476365 [A/G] NM_005958 MTNR1A EXON Missense_V52A exm438248 4 187509760 [A/G] NM_005245 FAT1 EXON Missense_H4585Y exm438249 4 187509786 [A/G] NM_005245 FAT1 EXON Missense_T4576M exm438258 4 187509931 [T/C] NM_005245 FAT1 EXON Missense_E4528K exm438262 4 187510008 [T/C] NM_005245 FAT1 EXON Missense_Q4502R exm438264 4 187510037 [A/C] NM_005245 FAT1 EXON Missense_N4492K exm438267 4 187510072 [A/G] NM_005245 FAT1 EXON Missense_R4481W exm438277 4 187510258 [T/C] NM_005245 FAT1 EXON Missense_A4419T exm438283 4 187510339 [T/C] NM_005245 FAT1 EXON Missense_V4392I exm438295 4 187516939 [T/G] NM_005245 FAT1 EXON Missense_L4348I exm438299 4 187517847 [T/C] NM_005245 FAT1 EXON Missense_E4283K exm438305 4 187518024 [T/C] NM_005245 FAT1 EXON Missense_A4224T exm438306 4 187518041 [T/C] NM_005245 FAT1 EXON Missense_D4218G exm438308 4 187518072 [A/G] NM_005245 FAT1 EXON Missense_R4208W exm438311 4 187518138 [T/C] NM_005245 FAT1 EXON Missense_V4186I exm438317 4 187518228 [T/C] NM_005245 FAT1 EXON Missense_E4156K exm438327 4 187518916 [T/G] NM_005245 FAT1 EXON Missense_E4096D exm438335 4 187519175 [T/C] NM_005245 FAT1 EXON Missense_D4070N exm438338 4 187519206 [G/C] NM_005245 FAT1 EXON Missense_K4059N exm438340 4 187519226 [T/C] NM_005245 FAT1 EXON Missense_V4053I exm2071430 4 187521158 [A/G] NM_005245 FAT1 EXON Synonymous_I3999I exm438349 4 187521168 [T/C] NM_005245 FAT1 EXON Missense_Y3996C exm438357 4 187521435 [T/C] NM_005245 FAT1 EXON Missense_N3907S exm438364 4 187522566 [T/C] NM_005245 FAT1 EXON Missense_T3833A exm438376 4 187524176 [A/G] NM_005245 FAT1 EXON Missense_P3788L exm438386 4 187524464 [A/G] NM_005245 FAT1 EXON Missense_A3739V exm438390 4 187524525 [T/C] NM_005245 FAT1 EXON Missense_V3719M exm438391 4 187524600 [T/C] NM_005245 FAT1 EXON Missense_V3694I exm438395 4 187524658 [C/G] NM_005245 FAT1 EXON Missense_R3674S exm2071446 4 187524677 [A/C] NM_005245 FAT1 EXON Missense_R3668L exm438400 4 187524714 [T/C] NM_005245 FAT1 EXON Missense_V3656I exm438422 4 187524923 [A/G] NM_005245 FAT1 EXON Missense_M3586T exm438425 4 187525020 [A/C] NM_005245 FAT1 EXON Missense_S3554A exm438429 4 187525083 [T/C] NM_005245 FAT1 EXON Missense_I3533V exm438431 4 187525108 [C/G] NM_005245 FAT1 EXON Missense_Q3524H exm438435 4 187525560 [T/C] NM_005245 FAT1 EXON Missense_E3507K exm438438 4 187525592 [A/G] NM_005245 FAT1 EXON Missense_V3496A exm438441 4 187525601 [A/G] NM_005245 FAT1 EXON Missense_P3493L exm438443 4 187525641 [T/C] NM_005245 FAT1 EXON Missense_I3480V exm438446 4 187525704 [T/C] NM_005245 FAT1 EXON Missense_V3459M exm438448 4 187525727 [T/G] NM_005245 FAT1 EXON Missense_E3451A exm2071455 4 187527259 [T/C] NM_005245 FAT1 EXON Missense_V3439I exm438455 4 187527319 [A/G] NM_005245 FAT1 EXON Missense_P3419S exm438456 4 187527321 [A/G] NM_005245 FAT1 EXON Missense_P3418L exm438459 4 187530337 [T/C] NM_005245 FAT1 EXON Synonymous_T3402T exm438460 4 187530338 [A/G] NM_005245 FAT1 EXON Missense_T3402M exm438464 4 187530402 [T/C] NM_005245 FAT1 EXON Missense_S3381G exm438468 4 187530464 [T/C] NM_005245 FAT1 EXON Missense_D3360G exm438474 4 187531022 [A/G] NM_005245 FAT1 EXON Missense_V3334A exm438477 4 187531074 [T/C] NM_005245 FAT1 EXON Missense_D3317N exm438479 4 187531122 [A/G] NM_005245 FAT1 EXON Missense_Y3301H exm438484 4 187532667 [C/G] NM_005245 FAT1 EXON Missense_D3242E exm438486 4 187532696 [A/G] NM_005245 FAT1 EXON Missense_R3233C exm438489 4 187532810 [T/A] NM_005245 FAT1 EXON Missense_Y3195N exm438494 4 187534286 [A/C] NM_005245 FAT1 EXON Missense_V3147G exm438514 4 187535425 [A/G] NM_005245 FAT1 EXON Missense_A3050V exm438515 4 187535444 [T/G] NM_005245 FAT1 EXON Missense_Q3044K exm438516 4 187535479 [A/G] NM_005245 FAT1 EXON Missense_I3032T exm2071477 4 187538224 [A/G] NM_005245 FAT1 EXON Missense_S3004P exm438522 4 187538239 [T/C] NM_005245 FAT1 EXON Missense_T2999A exm2071478 4 187538271 [T/A] NM_005245 FAT1 EXON Missense_K2988I exm438534 4 187538942 [T/G] NM_005245 FAT1 EXON Missense_Q2933P exm438542 4 187539125 [A/G] NM_005245 FAT1 EXON Missense_L2872S exm438545 4 187539205 [T/C] NM_005245 FAT1 EXON Missense_M2845I exm438546 4 187539216 [T/C] NM_005245 FAT1 EXON Missense_G2842S exm438551 4 187539267 [T/C] NM_005245 FAT1 EXON Missense_G2825R exm2240789 4 187539275 [A/G] NM_005245 FAT1 EXON Missense_L2822P exm438553 4 187539323 [T/C] NM_005245 FAT1 EXON Missense_S2806N exm438564 4 187539588 [T/C] NM_005245 FAT1 EXON Missense_I2718V exm438573 4 187539783 [T/C] NM_005245 FAT1 EXON Missense_G2653S exm438587 4 187539971 [T/C] NM_005245 FAT1 EXON Missense_N2590S exm438589 4 187540040 [T/C] NM_005245 FAT1 EXON Missense_R2567H exm438594 4 187540095 [A/G] NM_005245 FAT1 EXON Missense_F2549L exm438598 4 187540190 [A/G] NM_005245 FAT1 EXON Missense_T2517M exm438605 4 187540442 [T/C] NM_005245 FAT1 EXON Missense_N2433S exm2071486 4 187540589 [T/C] NM_005245 FAT1 EXON Missense_N2384S exm438611 4 187540602 [T/C] NM_005245 FAT1 EXON Missense_V2380I exm438614 4 187540610 [A/G] NM_005245 FAT1 EXON Missense_T2377M exm438615 4 187540622 [T/C] NM_005245 FAT1 EXON Missense_D2373G exm438616 4 187540634 [A/G] NM_005245 FAT1 EXON Missense_T2369M exm438617 4 187540635 [T/G] NM_005245 FAT1 EXON Missense_T2369P exm438620 4 187540683 [A/C] NM_005245 FAT1 EXON Missense_S2353A exm438625 4 187540918 [G/C] NM_005245 FAT1 EXON Missense_D2274E exm438629 4 187540958 [A/G] NM_005245 FAT1 EXON Missense_T2261M exm438631 4 187540977 [A/G] NM_005245 FAT1 EXON Missense_R2255C exm438637 4 187541084 [A/G] NM_005245 FAT1 EXON Missense_T2219I exm2071494 4 187541283 [T/C] NM_005245 FAT1 EXON Missense_T2153A exm438654 4 187541379 [T/C] NM_005245 FAT1 EXON Missense_K2121E exm438659 4 187541475 [T/C] NM_005245 FAT1 EXON Missense_V2089I exm438670 4 187541661 [A/G] NM_005245 FAT1 EXON Missense_R2027C exm2274060 4 187541679 [A/G] NM_005245 FAT1 EXON Missense_R2021C exm438676 4 187541728 [A/C] NM_005245 FAT1 EXON Missense_I2004M exm438681 4 187541781 [A/C] NM_005245 FAT1 EXON Missense_V1987L exm438686 4 187541937 [T/C] NM_005245 FAT1 EXON Missense_A1935T exm438692 4 187542069 [T/G] NM_005245 FAT1 EXON Missense_P1891T exm2071502 4 187542152 [A/G] NM_005245 FAT1 EXON Missense_A1863V exm438697 4 187542201 [T/C] NM_005245 FAT1 EXON Missense_V1847I exm438705 4 187542380 [T/C] NM_005245 FAT1 EXON Missense_D1787G exm438712 4 187542434 [T/C] NM_005245 FAT1 EXON Missense_E1769G exm438726 4 187542755 [T/C] NM_005245 FAT1 EXON Missense_N1662S exm438730 4 187542788 [A/G] NM_005245 FAT1 EXON Missense_T1651I exm438732 4 187542899 [A/G] NM_005245 FAT1 EXON Missense_P1614L exm438734 4 187542927 [T/C] NM_005245 FAT1 EXON Missense_N1605D exm438737 4 187549364 [A/G] NM_005245 FAT1 EXON Missense_T1585M exm438738 4 187549401 [G/C] NM_005245 FAT1 EXON Missense_E1573Q exm438740 4 187549428 [T/C] NM_005245 FAT1 EXON Missense_A1564T exm438743 4 187549473 [T/C] NM_005245 FAT1 EXON Missense_V1549M exm438747 4 187549725 [A/G] NM_005245 FAT1 EXON Missense_R1506C exm438749 4 187549766 [G/C] NM_005245 FAT1 EXON Missense_T1492S exm438752 4 187549809 [T/C] NM_005245 FAT1 EXON Missense_I1478V exm438757 4 187549883 [T/C] NM_005245 FAT1 EXON Missense_R1453H exm438759 4 187549905 [T/C] NM_005245 FAT1 EXON Missense_V1446I exm438760 4 187554849 [T/C] NM_005245 FAT1 EXON Missense_I1438V exm438767 4 187557301 [T/C] NM_005245 FAT1 EXON Missense_E1354G exm438769 4 187557373 [T/C] NM_005245 FAT1 EXON Missense_N1330S exm438775 4 187557782 [A/G] NM_005245 FAT1 EXON Missense_S1310L exm438779 4 187557863 [A/G] NM_005245 FAT1 EXON Missense_P1283L exm438781 4 187557893 [T/C] NM_005245 FAT1 EXON Missense_H1273R exm438782 4 187557908 [T/C] NM_005245 FAT1 EXON Missense_R1268Q exm438786 4 187557962 [T/C] NM_005245 FAT1 EXON Missense_Y1250C exm2071536 4 187584498 [T/A] NM_005245 FAT1 EXON Missense_T1179S exm438797 4 187584530 [A/G] NM_005245 FAT1 EXON Missense_S1168L exm438798 4 187584587 [A/G] NM_005245 FAT1 EXON Missense_M1149T exm2071539 4 187584654 [T/C] NM_005245 FAT1 EXON Missense_I1127V exm438800 4 187584660 [T/G] NM_005245 FAT1 EXON Missense_I1125L exm438802 4 187584684 [T/C] NM_005245 FAT1 EXON Missense_V1117M exm438803 4 187584696 [T/C] NM_005245 FAT1 EXON Missense_D1113N exm438805 4 187584708 [C/G] NM_005245 FAT1 EXON Missense_V1109L exm438815 4 187627765 [T/C] NM_005245 FAT1 EXON Missense_I1073V exm438816 4 187627792 [T/C] NM_005245 FAT1 EXON Missense_R1064G exm438817 4 187627815 [A/G] NM_005245 FAT1 EXON Missense_V1056A exm438819 4 187627818 [A/G] NM_005245 FAT1 EXON Missense_T1055M exm438823 4 187627915 [T/C] NM_005245 FAT1 EXON Missense_V1023I exm438828 4 187628076 [T/C] NM_005245 FAT1 EXON Missense_H969R exm438841 4 187628248 [T/C] NM_005245 FAT1 EXON Missense_V912I exm2071546 4 187628344 [T/C] NM_005245 FAT1 EXON Missense_A880T exm438846 4 187628365 [T/C] NM_005245 FAT1 EXON Missense_V873M exm438849 4 187628398 [G/C] NM_005245 FAT1 EXON Missense_V862L exm438850 4 187628401 [T/C] NM_005245 FAT1 EXON Missense_I861V exm438852 4 187628419 [T/C] NM_005245 FAT1 EXON Missense_G855R exm438855 4 187628556 [T/C] NM_005245 FAT1 EXON Missense_H809R exm438857 4 187628637 [T/C] NM_005245 FAT1 EXON Missense_R782H exm438864 4 187628841 [A/G] NM_005245 FAT1 EXON Missense_P714L exm438865 4 187628845 [T/G] NM_005245 FAT1 EXON Missense_I713L exm438868 4 187628947 [T/C] NM_005245 FAT1 EXON Missense_V679I exm438871 4 187629042 [A/G] NM_005245 FAT1 EXON Missense_A647V exm438873 4 187629076 [T/C] NM_005245 FAT1 EXON Missense_A636T exm438878 4 187629140 [C/G] NM_005245 FAT1 EXON Missense_F614L exm438880 4 187629232 [T/C] NM_005245 FAT1 EXON Missense_V584M exm438885 4 187629268 [T/C] NM_005245 FAT1 EXON Missense_I572V exm2256533 4 187629296 [T/C] NM_005245 FAT1 EXON Synonymous_L562L exm438897 4 187629490 [T/C] NM_005245 FAT1 EXON Missense_V498M exm438900 4 187629538 [T/C] NM_005245 FAT1 EXON Missense_V482I exm438905 4 187629583 [A/C] NM_005245 FAT1 EXON Missense_A467S exm438912 4 187629770 [A/C] NM_005245 FAT1 EXON Missense_S404R exm438918 4 187629838 [A/G] NM_005245 FAT1 EXON Missense_P382S exm438928 4 187630047 [C/G] NM_005245 FAT1 EXON Missense_S312T exm438931 4 187630099 [T/C] NM_005245 FAT1 EXON Missense_V295M exm438943 4 187630347 [T/A] NM_005245 FAT1 EXON Missense_Y212F exm438950 4 187630590 [A/G] NM_005245 FAT1 EXON Missense_A131V exm438951 4 187630597 [G/C] NM_005245 FAT1 EXON Missense_V129L exm438956 4 187630813 [T/C] NM_005245 FAT1 EXON Missense_V57I exm438963 4 187630905 [T/C] NM_005245 FAT1 EXON Missense_R26Q exm2071574 4 187630998 [A/G] NM_005245 FAT1 EXON Silent exm-rs925642 4 187678866 [T/C] exm2265810 4 187775639 [A/G] exm2265900 4 188170467 [A/G] exm2269892 4 188258978 [T/C] NR_038931 LOC339975 Silent exm-rs1431005 4 188345368 [A/G] NR_038931 LOC339975 Silent exm2265901 4 188451707 [A/G] exm2269893 4 188905061 [T/C] exm438968 4 188924050 [A/G] NM_174900 ZFP42 EXON Missense_G30D exm438975 4 188924151 [A/G] NM_174900 ZFP42 EXON Missense_G64R exm438977 4 188924230 [T/C] NM_174900 ZFP42 EXON Missense_S90L exm438994 4 188924506 [A/T] NM_174900 ZFP42 EXON Missense_Y182F exm438995 4 188924523 [A/G] NM_174900 ZFP42 EXON Missense_I188V exm438996 4 188924554 [A/G] NM_174900 ZFP42 EXON Missense_K198R exm438999 4 188924601 [C/G] NM_174900 ZFP42 EXON Missense_P214A exm439005 4 188924698 [T/G] NM_174900 ZFP42 EXON Missense_R246L exm439008 4 188924713 [A/G] NM_174900 ZFP42 EXON Missense_G251E exm439014 4 188924793 [T/C] NM_174900 ZFP42 EXON Missense_P278S exm-rs11734306 4 188973194 [A/C] exm439020 4 189012577 [C/G] NM_173553 TRIML2 EXON Missense_L372V exm439021 4 189012586 [A/G] NM_173553 TRIML2 EXON Missense_P369S exm439024 4 189012660 [T/C] NM_173553 TRIML2 EXON Missense_N344S exm439025 4 189012667 [T/G] NM_173553 TRIML2 EXON Missense_I342L exm439037 4 189012810 [A/G] NM_173553 TRIML2 EXON Missense_S294L exm439038 4 189012816 [A/G] NM_173553 TRIML2 EXON Missense_T292M exm439039 4 189012829 [T/C] NM_173553 TRIML2 EXON Missense_K288E exm439042 4 189012846 [A/G] NM_173553 TRIML2 EXON Missense_A282V exm439043 4 189012849 [A/G] NM_173553 TRIML2 EXON Missense_T281M exm439045 4 189012861 [A/G] NM_173553 TRIML2 EXON Missense_A277V exm439047 4 189012901 [T/C] NM_173553 TRIML2 EXON Missense_T264A exm2071590 4 189013000 [C/G] NM_173553 TRIML2 EXON Missense_A231P exm439054 4 189013081 [T/C] NM_173553 TRIML2 EXON Missense_D204N exm439068 4 189020223 [T/G] NM_173553 TRIML2 EXON Missense_K146T exm439069 4 189020236 [T/C] NM_173553 TRIML2 EXON Missense_V142M exm439071 4 189020260 [T/C] NM_173553 TRIML2 EXON Missense_V134I exm439077 4 189020319 [T/C] NM_173553 TRIML2 EXON Missense_R114H exm439079 4 189022256 [T/A] NM_173553 TRIML2 EXON Missense_I95N exm439080 4 189022310 [T/A] NM_173553 TRIML2 EXON Missense_Q77L exm439085 4 189022350 [A/G] NM_173553 TRIML2 EXON Missense_R64W exm439088 4 189022398 [T/C] NM_173553 TRIML2 EXON Missense_E48K exm439093 4 189026085 [T/C] NM_173553 TRIML2 EXON Missense_K14R exm439103 4 189060803 [A/T] NM_178556 TRIML1 EXON Missense_C31S exm439104 4 189060860 [T/C] NM_178556 TRIML1 EXON Missense_P50S exm439111 4 189060945 [T/C] NM_178556 TRIML1 EXON Missense_A78V exm439115 4 189060983 [C/G] NM_178556 TRIML1 EXON Missense_E91Q exm439116 4 189060998 [A/G] NM_178556 TRIML1 EXON Missense_G96R exm439117 4 189061010 [A/G] NM_178556 TRIML1 EXON Missense_T100A exm439122 4 189061086 [A/T] NM_178556 TRIML1 EXON Missense_V125E exm2275787 4 189061099 [A/C] NM_178556 TRIML1 EXON Missense_S129R exm439123 4 189061106 [A/G] NM_178556 TRIML1 EXON Missense_E132K exm439142 4 189063589 [A/G] NM_178556 TRIML1 EXON Missense_A230T exm439146 4 189063625 [A/G] NM_178556 TRIML1 EXON Missense_E242K exm439154 4 189065193 [C/G] NM_178556 TRIML1 EXON Missense_S254R exm2071626 4 189065225 [T/C] NM_178556 TRIML1 EXON Missense_T265I exm439172 4 189068117 [T/C] NM_178556 TRIML1 EXON Missense_T333I exm439177 4 189068317 [A/G] NM_178556 TRIML1 EXON Missense_V400I exm439181 4 189068380 [T/C] NM_178556 TRIML1 EXON Missense_Y421H exm439183 4 189068390 [T/C] NM_178556 TRIML1 EXON Missense_T424M exm439186 4 189068510 [T/G] NM_178556 TRIML1 EXON Missense_L464R exm2261683 4 189540683 [A/G] exm-rs7659062 4 189587079 [T/C] exm2269894 4 189759697 [T/C] exm-rs4260585 4 190008681 [A/G] exm2256539 4 190151383 [A/C] exm2261684 4 190758884 [T/C] exm439269 4 190876192 [A/C] NM_004477 FRG1 EXON Missense_R106S exm2240801 4 190876268 [A/G] NM_004477 FRG1 EXON Missense_I132V exm439296 4 190878569 [T/C] NM_004477 FRG1 EXON Missense_L150S exm439297 4 190878571 [A/G] NM_004477 FRG1 EXON Missense_A151T exm439298 4 190878577 [A/G] NM_004477 FRG1 EXON Missense_N153D exm439345 4 190883077 [A/C] NM_004477 FRG1 EXON Missense_L244I exm439359 4 190903682 [A/C] exm439380 4 190903827 [T/C] exm2265813 4 190915650 [A/G] exm439706 5 140474 [A/G] NM_052909 PLEKHG4B EXON Missense_G18R exm439715 5 140622 [A/G] NM_052909 PLEKHG4B EXON Missense_R67Q exm439716 5 140636 [A/G] NM_052909 PLEKHG4B EXON Missense_A72T exm439722 5 140781 [A/G] NM_052909 PLEKHG4B EXON Missense_G120E exm439724 5 140795 [A/G] NM_052909 PLEKHG4B EXON Missense_V125I exm439725 5 140813 [T/G] NM_052909 PLEKHG4B EXON Missense_G131C exm439727 5 143197 [A/G] NM_052909 PLEKHG4B EXON Missense_G149S exm439728 5 143213 [T/G] NM_052909 PLEKHG4B EXON Missense_C154F exm439731 5 143239 [A/G] NM_052909 PLEKHG4B EXON Missense_V163M exm439738 5 143359 [A/G] NM_052909 PLEKHG4B EXON Missense_V203I exm439742 5 143534 [A/G] NM_052909 PLEKHG4B EXON Missense_R220H exm439744 5 144943 [A/G] NM_052909 PLEKHG4B EXON Missense_K249E exm439753 5 151679 [A/T] NM_052909 PLEKHG4B EXON Missense_S297T exm439760 5 155102 [A/G] NM_052909 PLEKHG4B EXON Missense_R346H exm439764 5 155476 [T/C] NM_052909 PLEKHG4B EXON Missense_A353V exm439770 5 156208 [A/G] NM_052909 PLEKHG4B EXON Missense_Q388R exm439779 5 156325 [A/G] NM_052909 PLEKHG4B EXON Missense_R427Q exm439781 5 156902 [T/C] NM_052909 PLEKHG4B EXON Missense_A432V exm439793 5 156991 [T/C] NM_052909 PLEKHG4B EXON Missense_R462W exm439799 5 161923 [T/C] NM_052909 PLEKHG4B EXON Missense_L482P exm439800 5 161938 [T/C] NM_052909 PLEKHG4B EXON Missense_P487L exm439801 5 161943 [T/C] NM_052909 PLEKHG4B EXON Missense_R489C exm439806 5 162040 [T/C] NM_052909 PLEKHG4B EXON Missense_S521L exm439809 5 162058 [A/C] NM_052909 PLEKHG4B EXON Missense_T527K exm439812 5 162865 [T/C] NM_052909 PLEKHG4B EXON Missense_P537L exm439821 5 162951 [A/G] NM_052909 PLEKHG4B EXON Missense_G566R exm439832 5 163008 [T/C] NM_052909 PLEKHG4B EXON Nonsense_Q585X exm439854 5 163234 [T/C] NM_052909 PLEKHG4B EXON Missense_A660V exm439858 5 163260 [A/C] NM_052909 PLEKHG4B EXON Missense_T669P exm439859 5 163266 [C/G] NM_052909 PLEKHG4B EXON Missense_R671G exm439861 5 163278 [T/C] NM_052909 PLEKHG4B EXON Missense_C675R exm439870 5 163396 [A/G] NM_052909 PLEKHG4B EXON Missense_R714H exm439875 5 163446 [A/G] NM_052909 PLEKHG4B EXON Missense_E731K exm439876 5 163461 [A/G] NM_052909 PLEKHG4B EXON Missense_D736N exm2094314 5 163467 [C/G] NM_052909 PLEKHG4B EXON Missense_G738R exm439881 5 163534 [T/C] NM_052909 PLEKHG4B EXON Missense_T760I exm439882 5 163536 [T/G] NM_052909 PLEKHG4B EXON Missense_V761L exm2094315 5 163554 [A/C] NM_052909 PLEKHG4B EXON Missense_L767I exm439891 5 163624 [T/C] NM_052909 PLEKHG4B EXON Missense_L790P exm439899 5 169468 [T/C] NM_052909 PLEKHG4B EXON Missense_H808Y exm439906 5 169559 [T/C] NM_052909 PLEKHG4B EXON Missense_M838T exm439909 5 169589 [A/G] NM_052909 PLEKHG4B EXON Missense_H848R exm439913 5 169649 [A/G] NM_052909 PLEKHG4B EXON Missense_R868Q exm439915 5 169691 [A/G] NM_052909 PLEKHG4B EXON Missense_R882H exm439919 5 171338 [T/C] NM_052909 PLEKHG4B EXON Missense_R921W exm439920 5 171339 [A/G] NM_052909 PLEKHG4B EXON Missense_R921Q exm2095236 5 171393 [A/G] NM_052909 PLEKHG4B EXON Missense_R939H exm2242210 5 171480 [T/G] NM_052909 PLEKHG4B EXON Missense_R968L exm439937 5 171559 [T/C] NM_052909 PLEKHG4B EXON Synonymous_D994D exm439952 5 174060 [A/G] NM_052909 PLEKHG4B EXON Missense_V1061I exm439957 5 174106 [A/G] NM_052909 PLEKHG4B EXON Missense_R1076Q exm439960 5 174171 [A/G] NM_052909 PLEKHG4B EXON Missense_V1098I exm439967 5 181701 [A/G] NM_052909 PLEKHG4B EXON Missense_R1136Q exm439969 5 181730 [C/G] NM_052909 PLEKHG4B EXON Missense_R1146G exm439970 5 181734 [T/C] NM_052909 PLEKHG4B EXON Missense_A1147V exm439971 5 181736 [T/C] NM_052909 PLEKHG4B EXON Missense_P1148S exm439979 5 182175 [A/G] NM_052909 PLEKHG4B EXON Missense_K1185E exm439987 5 182284 [T/C] NM_052909 PLEKHG4B EXON Missense_P1221L exm440001 5 182428 [A/G] NM_052909 PLEKHG4B EXON Missense_R1269H exm440004 5 191675 [T/C] NM_001080478 LRRC14B EXON Missense_R8C exm440011 5 191793 [T/C] NM_001080478 LRRC14B EXON Missense_A47V exm440012 5 191797 [C/G] NM_001080478 LRRC14B EXON Missense_E48D exm440039 5 192281 [T/C] NM_001080478 LRRC14B EXON Missense_P210S exm440040 5 192288 [T/C] NM_001080478 LRRC14B EXON Missense_A212V exm440041 5 192294 [A/G] NM_001080478 LRRC14B EXON Missense_R214H exm440062 5 194849 [A/T] NM_001080478 LRRC14B EXON Missense_L309Q exm440069 5 195040 [A/G] NM_001080478 LRRC14B EXON Missense_V373I exm440073 5 195112 [A/G] NM_001080478 LRRC14B EXON Missense_G397R exm440075 5 195125 [T/C] NM_001080478 LRRC14B EXON Missense_S401L exm440078 5 195139 [T/C] NM_001080478 LRRC14B EXON Missense_R406W exm440082 5 195172 [A/G] NM_001080478 LRRC14B EXON Missense_E417K exm440083 5 195179 [A/G] NM_001080478 LRRC14B EXON Missense_R419H exm440084 5 195192 [A/C] NM_001080478 LRRC14B EXON Missense_F423L exm440091 5 195299 [A/G] NM_001080478 LRRC14B EXON Missense_R459H exm440094 5 195323 [A/G] NM_001080478 LRRC14B EXON Missense_R467Q exm440108 5 205606 [T/C] NM_145265 CCDC127 EXON Missense_D197N exm440110 5 205648 [A/G] NM_145265 CCDC127 EXON Missense_R183W exm2098247 5 205683 [T/C] NM_145265 CCDC127 EXON Missense_N171S exm440114 5 205828 [A/C] NM_145265 CCDC127 EXON Nonsense_E123X exm2242371 5 205863 [T/C] NM_145265 CCDC127 EXON Missense_R111H exm440117 5 205882 [T/C] NM_145265 CCDC127 EXON Missense_A105T exm440121 5 205939 [T/C] NM_145265 CCDC127 EXON Missense_A86T exm440124 5 206013 [T/C] NM_145265 CCDC127 EXON Missense_R61Q exm440125 5 206016 [T/C] NM_145265 CCDC127 EXON Missense_R60H exm440135 5 223624 [T/C] NM_004168 SDHA EXON Nonsense_R31X exm440137 5 223646 [T/A] NM_004168 SDHA EXON Missense_D38V exm440138 5 223666 [A/G] NM_004168 SDHA EXON Missense_A45T exm440210 5 233751 [A/G] NM_004168 SDHA EXON Missense_R352Q exm440214 5 235309 [G/C] NM_004168 SDHA EXON Missense_P372R exm440241 5 236678 [A/G] NM_004168 SDHA EXON Missense_A466T exm440320 5 306807 [A/G] NM_001267556,NM_013232,NM_001267557,NM_001267559,NM_001267558,NM_020731,NM_001242412 PDCD6,PDCD6,PDCD6,PDCD6,PDCD6,AHRR,AHRR EXON Missense_R100H,Missense_R100H,Silent,Silent,Missense_R30H,Silent,Silent exm2098546 5 306838 [C/G] NM_001267556,NM_013232,NM_001267557,NM_001267559,NM_001267558,NM_020731,NM_001242412 PDCD6,PDCD6,PDCD6,PDCD6,PDCD6,AHRR,AHRR EXON Missense_I110M,Missense_I110M,Silent,Silent,Missense_I40M,Silent,Silent exm440334 5 314533 [A/G] NM_001267556,NM_013232,NM_001267557,NM_001267559,NM_001267558,NM_020731,NM_001242412 PDCD6,PDCD6,PDCD6,PDCD6,PDCD6,AHRR,AHRR EXON Missense_R158K,Missense_R160K,Missense_R92K,Synonymous_X70X,Missense_R90K,Silent,Silent exm440335 5 314554 [A/G] NM_001267556,NM_013232,NM_001267557,NM_001267559,NM_001267558,NM_020731,NM_001242412 PDCD6,PDCD6,PDCD6,PDCD6,PDCD6,AHRR,AHRR EXON Missense_R165H,Missense_R167H,Missense_R99H,Silent,Missense_R97H,Silent,Silent exm440345 5 353885 [T/C] NM_020731,NM_001242412 AHRR,AHRR EXON Nonsense_R39X,Nonsense_R39X exm440356 5 376760 [A/G] NM_020731,NM_001242412 AHRR,AHRR EXON Missense_G98S,Missense_G98S exm440362 5 376775 [A/G] NM_020731,NM_001242412 AHRR,AHRR EXON Missense_G103R,Missense_G103R exm440381 5 422955 [C/G] NM_020731,NM_001242412 AHRR,AHRR EXON Missense_P189A,Missense_P189A exm440407 5 428070 [T/C] NM_020731,NM_001242412 AHRR,AHRR EXON Missense_A308V,Missense_A290V exm-rs12188164 5 428236 [A/C] NM_020731,NM_001242412 AHRR,AHRR Silent,Silent exm440418 5 432995 [A/G] NM_020731,NM_001242412 AHRR,AHRR EXON Missense_A371T,Missense_A353T exm440419 5 433019 [T/C] NM_020731,NM_001242412 AHRR,AHRR EXON Missense_R379W,Missense_R361W exm440428 5 434066 [T/C] NM_020731,NM_001242412 AHRR,AHRR EXON Missense_A426V,Missense_A408V exm440434 5 434146 [T/C] NM_020731,NM_001242412 AHRR,AHRR EXON Missense_R453C,Missense_R435C exm440438 5 434219 [T/C] NM_020731,NM_001242412 AHRR,AHRR EXON Missense_P477L,Missense_P459L exm440460 5 434546 [T/C] NM_020731,NM_001242412 AHRR,AHRR EXON Missense_A586V,Missense_A568V exm440461 5 434581 [C/G] NM_020731,NM_001242412 AHRR,AHRR EXON Missense_P598A,Missense_P580A exm440468 5 434722 [C/G] NM_020731,NM_001242412 AHRR,AHRR EXON Missense_D645H,Missense_D627H exm440476 5 434869 [A/G] NM_020731,NM_001242412 AHRR,AHRR EXON Missense_M694V,Missense_M676V exm440477 5 434875 [T/C] NM_020731,NM_001242412 AHRR,AHRR EXON Missense_P696S,Missense_P678S exm440486 5 442586 [C/G] NM_138464 C5orf55 EXON Missense_R118G exm440489 5 442675 [T/C] NM_138464 C5orf55 EXON Missense_G88D exm440493 5 442790 [A/G] NM_138464 C5orf55 EXON Missense_P50S exm440501 5 442933 [A/G] NM_138464 C5orf55 EXON Missense_P2L exm440507 5 446384 [T/C] NM_007277 EXOC3 EXON Missense_R22C exm440536 5 453623 [A/G] NM_007277 EXOC3 EXON Missense_R168H exm440540 5 453856 [A/G] NM_007277 EXOC3 EXON Missense_E246K exm440545 5 453946 [T/G] NM_007277 EXOC3 EXON Missense_V276F exm440547 5 453976 [A/G] NM_007277 EXOC3 EXON Missense_V286I exm440552 5 454142 [T/C] NM_007277 EXOC3 EXON Missense_T341M exm440553 5 454147 [T/G] NM_007277 EXOC3 EXON Missense_V343F exm440560 5 457041 [T/G] NM_007277 EXOC3 EXON Missense_V362L exm440579 5 464477 [A/G] NM_007277 EXOC3 EXON Missense_V576M exm440608 5 475076 [T/C] NM_004174 SLC9A3 EXON Missense_S808N exm440610 5 475104 [A/G] NM_004174 SLC9A3 EXON Missense_C799R exm2101096 5 476411 [T/C] NM_004174 SLC9A3 EXON Missense_R658Q exm440629 5 476445 [T/C] NM_004174 SLC9A3 EXON Missense_K647E exm440640 5 476716 [A/G] NM_004174 SLC9A3 EXON Missense_A611V exm440641 5 476734 [T/C] NM_004174 SLC9A3 EXON Missense_R605Q exm440643 5 476737 [T/C] NM_004174 SLC9A3 EXON Missense_R604Q exm440648 5 477466 [A/C] NM_004174 SLC9A3 EXON Missense_A581S exm2257249 5 477479 [T/C] NM_004174 SLC9A3 EXON Synonymous_S576S exm440652 5 477489 [T/G] NM_004174 SLC9A3 EXON Missense_T573K exm440654 5 477508 [T/C] NM_004174 SLC9A3 EXON Missense_V567M exm440667 5 480033 [T/C] NM_004174 SLC9A3 EXON Missense_R522Q exm440678 5 482208 [T/C] NM_004174 SLC9A3 EXON Missense_R474Q exm2101139 5 484636 [T/C] NM_004174 SLC9A3 EXON Missense_A311T exm440720 5 484719 [T/C] NM_004174 SLC9A3 EXON Missense_R283H exm2257251 5 484724 [A/G] NM_004174 SLC9A3 EXON Synonymous_H281H exm440723 5 484771 [T/C] NM_004174 SLC9A3 EXON Missense_V266M exm440728 5 485289 [T/C] NM_004174 SLC9A3 EXON Missense_V245M exm440736 5 488469 [T/C] NM_004174 SLC9A3 EXON Missense_V213I exm440746 5 488590 [A/G] NM_004174 SLC9A3 EXON Synonymous_G172G exm440762 5 492103 [T/C] NM_004174 SLC9A3 EXON Missense_V99I exm2101160 5 492130 [T/C] NM_004174 SLC9A3 EXON Missense_V90M exm2270000 5 492922 [T/G] NM_004174 SLC9A3 Silent exm-rs4957048 5 583442 [A/G] exm-rs11739663 5 594083 [T/C] exm2102395 5 619113 [T/C] NM_018140 CEP72 EXON Nonsense_Q31X exm440785 5 619210 [A/G] NM_018140 CEP72 EXON Missense_R63H exm440786 5 619212 [A/C] NM_018140 CEP72 EXON Missense_N64H exm440789 5 620200 [C/G] NM_018140 CEP72 EXON Missense_T76S exm440796 5 624587 [T/C] NM_018140 CEP72 EXON Synonymous_D135D exm440797 5 624588 [A/G] NM_018140 CEP72 EXON Missense_D136N exm440798 5 624591 [T/C] NM_018140 CEP72 EXON Missense_R137C exm440808 5 633915 [A/G] NM_018140 CEP72 EXON Missense_A182T exm440818 5 634048 [C/G] NM_018140 CEP72 EXON Missense_S226C exm440821 5 634054 [A/G] NM_018140 CEP72 EXON Missense_G228D exm440823 5 635508 [T/C] NM_018140 CEP72 EXON Missense_P238L exm440825 5 635531 [C/G] NM_018140 CEP72 EXON Missense_G246R exm2274063 5 635600 [T/C] NM_018140 CEP72 EXON Missense_P269S exm440842 5 637637 [A/G] NM_018140 CEP72 EXON Missense_M304V exm440844 5 637668 [A/G] NM_018140 CEP72 EXON Missense_K314R exm440845 5 637673 [A/G] NM_018140 CEP72 EXON Missense_D316N exm440846 5 637678 [T/G] NM_018140 CEP72 EXON Missense_L317F exm440859 5 637910 [T/C] NM_018140 CEP72 EXON Missense_R395W exm440864 5 639231 [A/C] NM_018140 CEP72 EXON Missense_P412T exm2242607 5 639244 [T/C] NM_018140 CEP72 EXON Missense_T416M exm440866 5 639267 [A/G] NM_018140 CEP72 EXON Missense_E424K exm2102497 5 639327 [A/G] NM_018140 CEP72 EXON Missense_E444K exm440876 5 640640 [A/G] NM_018140 CEP72 EXON Missense_R487H exm440885 5 640705 [A/G] NM_018140 CEP72 EXON Missense_T509A exm440889 5 644415 [T/A] NM_018140 CEP72 EXON Missense_D514V exm440891 5 644430 [A/G] NM_018140 CEP72 EXON Missense_H519R exm440908 5 647988 [A/G] NM_018140 CEP72 EXON Missense_D579N exm440910 5 653145 [C/G] NM_018140 CEP72 EXON Missense_S607R exm2242624 5 653162 [A/G] NM_018140 CEP72 EXON Missense_H613R exm440913 5 653209 [A/G] NM_018140 CEP72 EXON Missense_K629E exm440915 5 653248 [A/G] NM_018140 CEP72 EXON Missense_G642R exm2273401 5 665148 [A/G] NM_007030 TPPP EXON Silent exm2257313 5 666106 [T/C] NM_007030 TPPP EXON Synonymous_A148A exm440938 5 666161 [T/C] NM_007030 TPPP EXON Missense_D130G exm440949 5 677974 [T/C] NM_007030 TPPP EXON Missense_G68R exm440952 5 677988 [A/T] NM_007030 TPPP EXON Missense_D63V exm440971 5 814875 [T/C] NM_024786 ZDHHC11 Silent exm440983 5 819657 [T/C] NM_024786 ZDHHC11 EXON Missense_G377R exm440985 5 819669 [T/C] NM_024786 ZDHHC11 EXON Missense_V373I exm440986 5 819671 [T/C] NM_024786 ZDHHC11 EXON Missense_R372H exm440987 5 819672 [A/G] NM_024786 ZDHHC11 EXON Missense_R372C exm2105491 5 819693 [A/G] NM_024786 ZDHHC11 EXON Missense_R365C exm440992 5 819698 [A/C] NM_024786 ZDHHC11 EXON Missense_C363F exm440997 5 821992 [A/T] NM_024786 ZDHHC11 EXON Missense_C348S exm441004 5 825329 [A/T] NM_024786 ZDHHC11 EXON Missense_L325I exm441068 5 850518 [A/G] NM_024786 ZDHHC11 EXON Missense_A67V exm2242810 5 850668 [A/C] NM_024786 ZDHHC11 EXON Missense_L17R exm441088 5 850695 [T/C] NM_024786 ZDHHC11 EXON Missense_Q8R exm441145 5 878470 [T/C] NR_027633,NM_023924,NM_001009877 BRD9,BRD9,BRD9 EXON Silent,Missense_S424N,Missense_S371N exm441162 5 881229 [T/G] NR_027633,NM_023924,NM_001009877 BRD9,BRD9,BRD9 EXON Silent,Missense_D345E,Missense_D292E exm2257385 5 881238 [A/G] NR_027633,NM_023924,NM_001009877 BRD9,BRD9,BRD9 EXON Silent,Synonymous_A342A,Synonymous_A289A exm441168 5 881270 [T/C] NR_027633,NM_023924,NM_001009877 BRD9,BRD9,BRD9 EXON Silent,Missense_G332R,Missense_G279R exm2242824 5 886710 [A/G] NR_027633,NM_023924,NM_001009877 BRD9,BRD9,BRD9 EXON Silent,Missense_I277T,Missense_I224T exm441185 5 886744 [T/C] NR_027633,NM_023924,NM_001009877 BRD9,BRD9,BRD9 EXON Silent,Missense_A266T,Missense_A213T exm441209 5 891839 [G/C] NR_027633,NM_023924,NM_001009877 BRD9,BRD9,BRD9 EXON Silent,Missense_E61D,Missense_R10T exm441220 5 896798 [T/C] NM_001166260,NM_004237 TRIP13,TRIP13 EXON Missense_C93R,Missense_C93R exm441269 5 917145 [A/G] NM_004237 TRIP13 EXON Missense_G409E exm2106301 5 917213 [A/G] NM_004237 TRIP13 EXON Missense_I432V exm2266053 5 944298 [A/G] exm441282 5 1032318 [T/C] NM_001271082,NM_033120 NKD2,NKD2 EXON Missense_P65S,Missense_P65S exm441283 5 1033498 [A/G] NM_001271082,NM_033120 NKD2,NKD2 EXON Missense_A72T,Missense_A72T exm441293 5 1034365 [A/G] NM_001271082,NM_033120 NKD2,NKD2 EXON Missense_V116I,Missense_V116I exm441294 5 1034369 [T/C] NM_001271082,NM_033120 NKD2,NKD2 EXON Missense_S117L,Missense_S117L exm441302 5 1034875 [A/T] NM_001271082,NM_033120 NKD2,NKD2 EXON Missense_M144K,Missense_M144K exm2256826 5 1034879 [T/C] NM_001271082,NM_033120 NKD2,NKD2 EXON Synonymous_S145S,Synonymous_S145S exm441309 5 1034967 [A/G] NM_001271082,NM_033120 NKD2,NKD2 EXON Missense_V175I,Missense_V175I exm441314 5 1035507 [A/G] NM_001271082,NM_033120 NKD2,NKD2 EXON Missense_R193Q,Missense_R193Q exm441315 5 1035519 [A/G] NM_001271082,NM_033120 NKD2,NKD2 EXON Missense_R197H,Missense_R197H exm441316 5 1035555 [A/G] NM_001271082,NM_033120 NKD2,NKD2 EXON Missense_R209K,Missense_R209K exm2275788 5 1036393 [A/G] NM_001271082,NM_033120 NKD2,NKD2 EXON Synonymous_Q227Q,Synonymous_Q227Q exm441325 5 1036401 [T/C] NM_001271082,NM_033120 NKD2,NKD2 EXON Missense_S230L,Missense_S230L exm2083313 5 1037985 [T/C] NM_001271082,NM_033120 NKD2,NKD2 EXON Silent,Missense_R285C exm441347 5 1038004 [T/C] NM_001271082,NM_033120 NKD2,NKD2 EXON Silent,Missense_T291I exm441357 5 1038088 [T/C] NM_001271082,NM_033120 NKD2,NKD2 EXON Silent,Missense_T319M exm441361 5 1038109 [T/C] NM_001271082,NM_033120 NKD2,NKD2 EXON Silent,Missense_P326L exm441362 5 1038142 [C/G] NM_001271082,NM_033120 NKD2,NKD2 EXON Silent,Missense_S337C exm2241500 5 1038151 [T/C] NM_001271082,NM_033120 NKD2,NKD2 EXON Silent,Missense_P340L exm441365 5 1038205 [T/C] NM_001271082,NM_033120 NKD2,NKD2 EXON Silent,Missense_P358L exm441376 5 1038382 [T/C] NM_001271082,NM_033120 NKD2,NKD2 EXON Silent,Missense_T417M exm441391 5 1052486 [T/C] NM_006598 SLC12A7 EXON Missense_I1081V exm441408 5 1057628 [T/A] NM_006598 SLC12A7 EXON Missense_D995V exm441428 5 1063970 [C/G] NM_006598 SLC12A7 EXON Missense_V910L exm2256834 5 1064015 [A/G] NM_006598 SLC12A7 EXON Synonymous_L895L exm441460 5 1064344 [T/C] NM_006598 SLC12A7 EXON Missense_A821T exm441466 5 1065399 [T/C] NM_006598 SLC12A7 EXON Synonymous_V812V exm441468 5 1065424 [T/C] NM_006598 SLC12A7 EXON Missense_N804S exm441479 5 1065514 [A/G] NM_006598 SLC12A7 EXON Missense_M774T exm441484 5 1065551 [A/G] NM_006598 SLC12A7 EXON Missense_C762R exm441485 5 1065583 [A/G] NM_006598 SLC12A7 EXON Missense_S751F exm441488 5 1073753 [T/C] NM_006598 SLC12A7 EXON Missense_E746K exm441490 5 1073758 [T/C] NM_006598 SLC12A7 EXON Missense_R744Q exm441496 5 1073806 [A/C] NM_006598 SLC12A7 EXON Missense_G728V exm441503 5 1073873 [T/C] NM_006598 SLC12A7 EXON Missense_V706M exm2256839 5 1074750 [T/C] NM_006598 SLC12A7 EXON Synonymous_L668L exm441519 5 1074782 [A/C] NM_006598 SLC12A7 EXON Nonsense_E658X exm441548 5 1077973 [T/C] NM_006598 SLC12A7 EXON Missense_R535H exm441555 5 1078832 [T/C] NM_006598 SLC12A7 EXON Missense_V480M exm441571 5 1081740 [T/C] NM_006598 SLC12A7 EXON Missense_A417T exm441574 5 1081767 [T/C] NM_006598 SLC12A7 EXON Missense_A408T exm441575 5 1081776 [A/G] NM_006598 SLC12A7 EXON Missense_R405C exm441578 5 1081799 [A/G] NM_006598 SLC12A7 EXON Missense_S397L exm441588 5 1081844 [A/G] NM_006598 SLC12A7 EXON Missense_T382M exm441592 5 1083886 [A/G] NM_006598 SLC12A7 EXON Missense_P368L exm441597 5 1083937 [A/G] NM_006598 SLC12A7 EXON Missense_A351V exm441601 5 1083980 [T/C] NM_006598 SLC12A7 EXON Missense_A337T exm441607 5 1084036 [T/C] NM_006598 SLC12A7 EXON Missense_R318H exm441608 5 1084048 [A/G] NM_006598 SLC12A7 EXON Missense_T314M exm2241509 5 1085446 [A/G] NM_006598 SLC12A7 EXON Missense_V273A exm441631 5 1085534 [A/C] NM_006598 SLC12A7 EXON Missense_A244S exm441640 5 1087065 [T/C] NM_006598 SLC12A7 EXON Missense_T210A exm441651 5 1089099 [A/G] NM_006598 SLC12A7 EXON Missense_C163R exm441665 5 1093739 [A/G] NM_006598 SLC12A7 EXON Missense_S84L exm2256846 5 1094323 [A/G] NM_006598 SLC12A7 EXON Synonymous_N55N exm441672 5 1094325 [T/C] NM_006598 SLC12A7 EXON Missense_N55D exm-rs4580814 5 1113244 [T/G] exm2265904 5 1144466 [A/G] exm441685 5 1201806 [A/G] NM_001003841 SLC6A19 EXON Missense_R14Q exm441698 5 1201928 [A/G] NM_001003841 SLC6A19 EXON Missense_V55M exm441701 5 1208876 [T/C] NM_001003841 SLC6A19 EXON Missense_P73L exm2084859 5 1212445 [T/C] NM_001003841 SLC6A19 EXON Missense_S170F exm441716 5 1212453 [A/G] NM_001003841 SLC6A19 EXON Missense_D173N exm441717 5 1212468 [T/C] NM_001003841 SLC6A19 EXON Nonsense_R178X exm441718 5 1212475 [T/C] NM_001003841 SLC6A19 EXON Missense_T180M exm441720 5 1212490 [T/C] NM_001003841 SLC6A19 EXON Missense_T185M exm441723 5 1212523 [A/G] NM_001003841 SLC6A19 EXON Nonsense_W196X exm441739 5 1213668 [A/G] NM_001003841 SLC6A19 EXON Missense_V252I exm2084947 5 1216755 [A/G] NM_001003841 SLC6A19 EXON Missense_V324I exm441764 5 1216767 [T/C] NM_001003841 SLC6A19 EXON Missense_R328C exm441770 5 1216788 [A/G] NM_001003841 SLC6A19 EXON Missense_D335N exm2084954 5 1217062 [T/C] NM_001003841 SLC6A19 Silent exm441792 5 1219021 [A/G] NM_001003841 SLC6A19 EXON Missense_V393M exm441793 5 1219048 [A/G] NM_001003841 SLC6A19 EXON Missense_V402I exm2084992 5 1219647 [T/C] NM_001003841 SLC6A19 EXON Missense_I469T exm441801 5 1219673 [A/G] NM_001003841 SLC6A19 EXON Missense_G478S exm441807 5 1219769 [A/G] NM_001003841 SLC6A19 EXON Missense_G510S exm441814 5 1221333 [A/G] NM_001003841 SLC6A19 EXON Missense_V536M exm441816 5 1221366 [T/C] NM_001003841 SLC6A19 EXON Missense_L547F exm441817 5 1221378 [A/G] NM_001003841 SLC6A19 EXON Missense_V551M exm441819 5 1221428 [T/C] NM_001003841 SLC6A19 EXON Synonymous_Y567Y exm2085040 5 1221819 [A/G] NM_001003841 SLC6A19 EXON Missense_E569K exm441836 5 1225626 [T/A] NM_182632 SLC6A18 EXON Missense_C12S exm441837 5 1225628 [A/C] NM_182632 SLC6A18 EXON Nonsense_C12X exm441842 5 1225672 [A/C] NM_182632 SLC6A18 EXON Missense_Y27S exm441845 5 1225687 [T/C] NM_182632 SLC6A18 EXON Missense_T32I exm441849 5 1225719 [C/G] NM_182632 SLC6A18 EXON Missense_R43G exm441856 5 1232393 [A/G] NM_182632 SLC6A18 EXON Missense_V74I exm441860 5 1232408 [A/G] NM_182632 SLC6A18 EXON Missense_G79S exm441861 5 1232415 [A/G] NM_182632 SLC6A18 EXON Missense_R81Q exm441866 5 1232445 [T/C] NM_182632 SLC6A18 EXON Missense_T91M exm441869 5 1232468 [A/G] NM_182632 SLC6A18 EXON Missense_G99R exm441879 5 1235628 [A/G] NM_182632 SLC6A18 EXON Missense_V158M exm441887 5 1235736 [A/G] NM_182632 SLC6A18 EXON Missense_V194M exm441888 5 1235744 [A/G] NM_182632 SLC6A18 EXON Missense_M196I exm441898 5 1238175 [T/C] NM_182632 SLC6A18 EXON Synonymous_N244N exm441900 5 1239577 [T/C] NM_182632 SLC6A18 EXON Nonsense_Q249X exm441911 5 1239671 [T/C] NM_182632 SLC6A18 EXON Missense_S280L exm441919 5 1240749 [A/G] NM_182632 SLC6A18 EXON Missense_N317D exm441923 5 1242820 [T/A] NM_182632 SLC6A18 Silent exm441934 5 1243683 [T/C] NM_182632 SLC6A18 EXON Missense_P382L exm2256895 5 1243708 [A/G] NM_182632 SLC6A18 EXON Synonymous_T390T exm441942 5 1243716 [T/A] NM_182632 SLC6A18 EXON Missense_D393V exm441943 5 1243727 [A/C] NM_182632 SLC6A18 EXON Missense_P397T exm441945 5 1243748 [A/G] NM_182632 SLC6A18 EXON Missense_M404V exm441948 5 1243765 [A/G] NM_182632 SLC6A18 EXON Missense_M409I exm441952 5 1243802 [A/G] NM_182632 SLC6A18 EXON Missense_V422M exm441955 5 1243850 [A/T] NM_182632 SLC6A18 EXON Missense_W438R exm441957 5 1243873 [T/C] NM_182632 SLC6A18 EXON Synonymous_T445T exm2085245 5 1244330 [A/G] NM_182632 SLC6A18 EXON Synonymous_G446G exm441965 5 1244425 [T/C] NM_182632 SLC6A18 EXON Missense_P478L exm441967 5 1244478 [A/G] NM_182632 SLC6A18 EXON Missense_G496R exm2276867 5 1244729 [A/C] NM_182632 SLC6A18 EXON Nonsense_C501X exm441981 5 1245997 [A/C] NM_182632 SLC6A18 EXON Missense_P564Q exm442008 5 1254614 [A/G] NM_198253,NM_001193376 TERT,TERT EXON Missense_S1055L,Missense_S992L exm442009 5 1254619 [T/C] NM_198253,NM_001193376 TERT,TERT EXON Synonymous_G1053G,Synonymous_G990G exm442026 5 1264587 [A/G] NM_198253,NM_001193376 TERT,TERT EXON Synonymous_H925H,Silent exm442036 5 1268644 [T/C] NM_198253,NM_001193376 TERT,TERT EXON Missense_R858Q,Missense_R858Q exm442054 5 1278821 [T/C] NM_198253,NM_001193376 TERT,TERT EXON Missense_V741M,Missense_V741M exm442059 5 1278865 [A/G] NM_198253,NM_001193376 TERT,TERT EXON Missense_T726M,Missense_T726M exm-rs2853676 5 1288547 [T/C] NM_198253,NM_001193376 TERT,TERT Silent,Silent exm442113 5 1293767 [A/G] NM_198253,NM_001193376 TERT,TERT EXON Missense_H412Y,Missense_H412Y exm2274064 5 1293863 [A/G] NM_198253,NM_001193376 TERT,TERT EXON Missense_P380S,Missense_P380S exm2241634 5 1294138 [A/G] NM_198253,NM_001193376 TERT,TERT EXON Missense_A288V,Missense_A288V exm442132 5 1294163 [T/C] NM_198253,NM_001193376 TERT,TERT EXON Missense_E280K,Missense_E280K exm442133 5 1294166 [T/C] NM_198253,NM_001193376 TERT,TERT EXON Missense_A279T,Missense_A279T exm442135 5 1294222 [T/C] NM_198253,NM_001193376 TERT,TERT EXON Missense_G260D,Missense_G260D exm442141 5 1294429 [G/C] NM_198253,NM_001193376 TERT,TERT EXON Missense_S191T,Missense_S191T exm-rs4635969 5 1308552 [A/G] exm-rs4975616 5 1315660 [A/G] exm442165 5 1318491 [A/G] NM_030782 CLPTM1L EXON Missense_T537M exm-rs402710 5 1320722 [T/C] NM_030782 CLPTM1L Silent exm442187 5 1321928 [T/A] NM_030782 CLPTM1L EXON Missense_Y441F exm-rs401681 5 1322087 [T/C] NM_030782 CLPTM1L Silent exm442190 5 1322993 [A/G] NM_030782 CLPTM1L EXON Synonymous_N438N exm442192 5 1322998 [T/C] NM_030782 CLPTM1L EXON Missense_V437I exm442198 5 1323920 [A/G] NM_030782 CLPTM1L EXON Missense_L421P exm442203 5 1323945 [T/C] NM_030782 CLPTM1L EXON Missense_V413I exm442212 5 1325874 [T/C] NM_030782 CLPTM1L EXON Missense_E380K exm442225 5 1334488 [A/C] NM_030782 CLPTM1L EXON Missense_E269D exm442234 5 1335268 [T/C] NM_030782 CLPTM1L EXON Missense_E234K exm442235 5 1335280 [A/G] NM_030782 CLPTM1L EXON Missense_R230C exm442242 5 1338078 [T/C] NM_030782 CLPTM1L EXON Missense_V207M exm442251 5 1341803 [T/C] NM_030782 CLPTM1L EXON Missense_G146R exm-rs31489 5 1342714 [A/C] NM_030782 CLPTM1L Silent exm442267 5 1344827 [A/G] NM_030782 CLPTM1L EXON Nonsense_Q44X exm442270 5 1344848 [A/G] NM_030782 CLPTM1L EXON Missense_S37P exm442277 5 1394856 [G/C] NM_001044 SLC6A3 EXON Missense_K619N exm442284 5 1401064 [T/C] NM_001044 SLC6A3 EXON Missense_E602G exm442293 5 1403128 [A/G] NM_001044 SLC6A3 EXON Missense_A559V exm442309 5 1409836 [A/G] NM_001044 SLC6A3 EXON Synonymous_N466N exm442310 5 1409844 [T/C] NM_001044 SLC6A3 EXON Missense_V464I exm2256994 5 1409938 [A/G] NM_001044 SLC6A3 EXON Synonymous_T432T exm2270001 5 1412251 [T/C] NM_001044 SLC6A3 Silent exm442321 5 1414807 [A/G] NM_001044 SLC6A3 EXON Synonymous_D385D exm442329 5 1414844 [T/C] NM_001044 SLC6A3 EXON Missense_Q373R exm442347 5 1420713 [T/C] NM_001044 SLC6A3 EXON Missense_V300I exm442355 5 1422073 [T/C] NM_001044 SLC6A3 EXON Missense_R237Q exm2275789 5 1432627 [A/G] NM_001044 SLC6A3 EXON Missense_S202L exm2090549 5 1432627 [G/C] NM_001044 SLC6A3 EXON Missense_S202W exm442363 5 1432733 [A/G] NM_001044 SLC6A3 EXON Missense_L167F exm442376 5 1443028 [A/G] NM_001044 SLC6A3 EXON Synonymous_G95G exm2274065 5 1443304 [G/C] NM_001044 SLC6A3 EXON Missense_K3N exm442400 5 1463795 [A/G] NM_024830 LPCAT1 EXON Missense_R526W exm442402 5 1463806 [A/G] NM_024830 LPCAT1 EXON Missense_S522L exm442404 5 1463848 [A/G] NM_024830 LPCAT1 EXON Missense_P508L exm442406 5 1463876 [T/C] NM_024830 LPCAT1 EXON Missense_E499K exm442407 5 1463927 [T/C] NM_024830 LPCAT1 EXON Missense_M482V exm442408 5 1463932 [C/G] NM_024830 LPCAT1 EXON Missense_A480G exm442414 5 1466876 [T/G] NM_024830 LPCAT1 EXON Missense_K470Q exm2091093 5 1466983 [T/C] NM_024830 LPCAT1 EXON Missense_G434D exm442426 5 1470941 [T/C] NM_024830 LPCAT1 EXON Synonymous_K426K exm442427 5 1470942 [T/C] NM_024830 LPCAT1 EXON Missense_K426R exm442432 5 1470981 [T/C] NM_024830 LPCAT1 EXON Missense_R413Q exm442439 5 1474113 [T/C] NM_024830 LPCAT1 EXON Missense_V380I exm2257023 5 1474117 [A/G] NM_024830 LPCAT1 EXON Synonymous_V378V exm442440 5 1474117 [A/G] NM_024830 LPCAT1 EXON Synonymous_V378V exm442448 5 1474721 [T/C] NM_024830 LPCAT1 EXON Missense_A327T exm442466 5 1479789 [T/G] NM_024830 LPCAT1 EXON Missense_L255M exm442474 5 1483600 [A/C] NM_024830 LPCAT1 EXON Synonymous_G223G exm442477 5 1489886 [A/G] NM_024830 LPCAT1 EXON Missense_A194V exm442480 5 1489963 [C/G] NM_024830 LPCAT1 EXON Missense_Q168H exm442502 5 1501601 [T/C] NM_024830 LPCAT1 EXON Missense_E85K exm-rs2354124 5 1721485 [T/C] exm442533 5 1798979 [C/G] NM_032479 MRPL36 EXON Missense_R24P exm442557 5 1814523 [T/C] NM_004553 NDUFS6 EXON Missense_A86V exm442563 5 1815997 [C/G] NM_004553 NDUFS6 EXON Nonsense_Y114X exm-rs4975709 5 1877280 [A/C] exm442577 5 1878325 [T/C] NM_016358 IRX4 EXON Missense_D440N exm442581 5 1878432 [A/G] NM_016358 IRX4 EXON Missense_A404V exm2257162 5 1878566 [T/C] NM_016358 IRX4 EXON Synonymous_S359S exm442614 5 1879909 [T/C] NM_016358 IRX4 EXON Missense_A149T exm442617 5 1879927 [T/C] NM_016358 IRX4 EXON Missense_G143S exm442624 5 1880885 [T/C] NM_016358 IRX4 EXON Missense_A121T exm442626 5 1880891 [T/C] NM_016358 IRX4 EXON Missense_A119T exm-rs12653946 5 1895829 [T/C] exm2261897 5 1916139 [T/G] exm2270002 5 2104302 [T/C] exm-rs17586674 5 2335581 [A/G] exm2261904 5 2364626 [T/C] exm2257183 5 2706554 [T/C] exm442651 5 2748621 [A/C] NM_033267,NM_001134222 IRX2,IRX2 EXON Missense_A401S,Missense_A401S exm442653 5 2748650 [T/C] NM_033267,NM_001134222 IRX2,IRX2 EXON Missense_N391S,Missense_N391S exm442657 5 2748681 [C/G] NM_033267,NM_001134222 IRX2,IRX2 EXON Missense_P381A,Missense_P381A exm442673 5 2749057 [A/C] NM_033267,NM_001134222 IRX2,IRX2 EXON Missense_E255D,Missense_E255D exm442685 5 2749555 [T/C] NM_033267,NM_001134222 IRX2,IRX2 EXON Missense_S199N,Missense_S199N exm442688 5 2749621 [T/C] NM_033267,NM_001134222 IRX2,IRX2 EXON Missense_K177R,Missense_K177R exm442698 5 2749838 [T/C] NM_033267,NM_001134222 IRX2,IRX2 EXON Missense_S105G,Missense_S105G exm442701 5 2749865 [T/C] NM_033267,NM_001134222 IRX2,IRX2 EXON Missense_G96S,Missense_G96S exm442721 5 2752511 [A/G] NM_178569 C5orf38 EXON Missense_V45I exm442732 5 2752802 [T/G] NM_178569 C5orf38 EXON Missense_K89N exm442739 5 2753444 [C/G] NM_178569 C5orf38 EXON Missense_A127P exm-rs160560 5 3153253 [A/G] exm2261915 5 3311493 [T/C] exm442764 5 3599660 [G/C] NM_024337 IRX1 EXON Missense_Q200E exm2257211 5 3599680 [T/C] NM_024337 IRX1 EXON Synonymous_F206F exm442797 5 3600743 [A/C] NM_024337 IRX1 EXON Missense_P445T exm2257212 5 3606284 [T/C] exm-rs492478 5 3939476 [A/G] exm2257239 5 4288545 [T/C] exm2270179 5 4456841 [T/C] exm2270180 5 4874950 [T/C] exm442812 5 5140798 [T/C] NM_139056 ADAMTS16 EXON Missense_P32S exm2257259 5 5140855 [A/C] NM_139056 ADAMTS16 EXON Synonymous_R51R exm2270008 5 5141905 [T/C] NM_139056 ADAMTS16 Silent exm442821 5 5146335 [C/G] NM_139056 ADAMTS16 EXON Missense_P90A exm442823 5 5146365 [T/C] NM_139056 ADAMTS16 EXON Missense_R100W exm442826 5 5146377 [T/C] NM_139056 ADAMTS16 EXON Missense_S104P exm442828 5 5146395 [A/G] NM_139056 ADAMTS16 EXON Missense_M110V exm442838 5 5182242 [A/G] NM_139056 ADAMTS16 EXON Missense_Q196R exm442844 5 5182286 [T/C] NM_139056 ADAMTS16 EXON Missense_P211S exm442847 5 5182370 [T/C] NM_139056 ADAMTS16 EXON Missense_R239C exm442850 5 5182409 [T/C] NM_139056 ADAMTS16 EXON Missense_R252C exm-rs10037656 5 5183783 [A/G] NM_139056 ADAMTS16 Silent exm442854 5 5186243 [T/C] NM_139056 ADAMTS16 EXON Missense_L281P exm442855 5 5186252 [A/C] NM_139056 ADAMTS16 EXON Missense_S284Y exm442859 5 5186324 [A/G] NM_139056 ADAMTS16 EXON Missense_H308R exm442869 5 5190171 [T/C] NM_139056 ADAMTS16 EXON Missense_R379C exm442874 5 5191834 [A/G] NM_139056 ADAMTS16 EXON Missense_R415H exm442882 5 5200336 [T/G] NM_139056 ADAMTS16 EXON Missense_F469V exm442885 5 5209210 [A/G] NM_139056 ADAMTS16 EXON Missense_A486T exm442886 5 5209219 [A/C] NM_139056 ADAMTS16 EXON Missense_I489L exm442893 5 5209295 [T/C] NM_139056 ADAMTS16 EXON Missense_A514V exm442901 5 5232585 [A/C] NM_139056 ADAMTS16 EXON Nonsense_C602X exm442906 5 5235171 [T/C] NM_139056 ADAMTS16 EXON Missense_L632P exm442908 5 5235201 [A/G] NM_139056 ADAMTS16 EXON Missense_R642Q exm442909 5 5235252 [A/G] NM_139056 ADAMTS16 EXON Missense_R659Q exm442911 5 5235264 [A/G] NM_139056 ADAMTS16 EXON Missense_R663Q exm442917 5 5239309 [A/G] NM_139056 ADAMTS16 EXON Missense_V734I exm2101428 5 5239375 [T/C] NM_139056 ADAMTS16 EXON Missense_H756Y exm442930 5 5239862 [A/G] NM_139056 ADAMTS16 EXON Missense_T783A exm442932 5 5239880 [T/C] NM_139056 ADAMTS16 EXON Missense_R789C exm442943 5 5242218 [T/G] NM_139056 ADAMTS16 EXON Missense_R859L exm442946 5 5242229 [A/G] NM_139056 ADAMTS16 EXON Missense_E863K exm442951 5 5242303 [A/G] NM_139056 ADAMTS16 EXON Synonymous_G887G exm442956 5 5262836 [A/G] NM_139056 ADAMTS16 EXON Missense_N910S exm442961 5 5303416 [A/C] NM_139056 ADAMTS16 EXON Missense_T942K exm442962 5 5303424 [A/G] NM_139056 ADAMTS16 EXON Missense_G945R exm2257263 5 5303774 [T/C] NM_139056 ADAMTS16 EXON Synonymous_D1027D exm442982 5 5303788 [T/C] NM_139056 ADAMTS16 EXON Missense_S1032F exm442990 5 5306630 [A/G] NM_139056 ADAMTS16 EXON Missense_C1067Y exm442991 5 5306689 [T/C] NM_139056 ADAMTS16 EXON Missense_Y1087H exm443004 5 5318271 [A/G] NM_139056 ADAMTS16 EXON Missense_V1146I exm443033 5 5441314 [A/G] NM_015325 KIAA0947 EXON Missense_K96R exm2274066 5 5454668 [A/G] NM_015325 KIAA0947 EXON Missense_K203R exm443056 5 5457541 [A/G] NM_015325 KIAA0947 EXON Missense_Q263R exm443061 5 5457693 [A/G] NM_015325 KIAA0947 EXON Missense_G314S exm443069 5 5457747 [A/G] NM_015325 KIAA0947 EXON Missense_A332T exm443073 5 5457826 [T/C] NM_015325 KIAA0947 EXON Missense_P358L exm443078 5 5460619 [G/C] NM_015325 KIAA0947 EXON Missense_C391S exm443081 5 5460774 [A/G] NM_015325 KIAA0947 EXON Missense_E443K exm443082 5 5460775 [A/G] NM_015325 KIAA0947 EXON Missense_E443G exm2101697 5 5460878 [G/C] NM_015325 KIAA0947 EXON Missense_D477E exm443085 5 5460995 [A/C] NM_015325 KIAA0947 EXON Missense_S516R exm443095 5 5461233 [A/G] NM_015325 KIAA0947 EXON Missense_K596E exm443109 5 5461552 [T/G] NM_015325 KIAA0947 EXON Missense_S702I exm2257269 5 5461553 [T/C] NM_015325 KIAA0947 EXON Synonymous_S702S exm443123 5 5461851 [A/G] NM_015325 KIAA0947 EXON Missense_E802K exm2242562 5 5461886 [T/G] NM_015325 KIAA0947 EXON Missense_Q813H exm443130 5 5462002 [T/C] NM_015325 KIAA0947 EXON Missense_S852L exm443135 5 5462148 [A/G] NM_015325 KIAA0947 EXON Missense_V901I exm443136 5 5462181 [A/G] NM_015325 KIAA0947 EXON Missense_T912A exm443142 5 5462407 [T/C] NM_015325 KIAA0947 EXON Missense_P987L exm443143 5 5462436 [A/C] NM_015325 KIAA0947 EXON Missense_T997P exm443144 5 5462494 [T/G] NM_015325 KIAA0947 EXON Missense_V1016G exm443147 5 5462525 [T/A] NM_015325 KIAA0947 EXON Missense_R1026S exm443148 5 5462538 [T/G] NM_015325 KIAA0947 EXON Missense_A1031S exm443151 5 5462607 [A/G] NM_015325 KIAA0947 EXON Missense_T1054A exm443153 5 5462620 [A/G] NM_015325 KIAA0947 EXON Missense_G1058D exm443157 5 5462730 [G/C] NM_015325 KIAA0947 EXON Missense_H1095D exm443158 5 5462754 [T/G] NM_015325 KIAA0947 EXON Missense_G1103W exm443164 5 5462904 [A/G] NM_015325 KIAA0947 EXON Missense_T1153A exm443174 5 5463346 [A/G] NM_015325 KIAA0947 EXON Missense_K1300R exm443177 5 5463370 [T/C] NM_015325 KIAA0947 EXON Missense_T1308M exm443181 5 5463410 [A/C] NM_015325 KIAA0947 EXON Missense_Q1321H exm443183 5 5463484 [G/C] NM_015325 KIAA0947 EXON Missense_P1346R exm443184 5 5463492 [T/C] NM_015325 KIAA0947 EXON Missense_R1349C exm443192 5 5463669 [A/G] NM_015325 KIAA0947 EXON Missense_V1408I exm443194 5 5463777 [A/G] NM_015325 KIAA0947 EXON Missense_I1444V exm443205 5 5464024 [A/G] NM_015325 KIAA0947 EXON Missense_Y1526C exm2242566 5 5464140 [A/G] NM_015325 KIAA0947 EXON Missense_N1565D exm443214 5 5464237 [A/C] NM_015325 KIAA0947 EXON Missense_Q1597P exm443215 5 5464246 [A/G] NM_015325 KIAA0947 EXON Missense_Q1600R exm443219 5 5464329 [A/G] NM_015325 KIAA0947 EXON Missense_V1628M exm443225 5 5464411 [T/C] NM_015325 KIAA0947 EXON Missense_S1655L exm443231 5 5464464 [T/C] NM_015325 KIAA0947 EXON Missense_R1673C exm443236 5 5464533 [A/C] NM_015325 KIAA0947 EXON Missense_P1696T exm443241 5 5464662 [A/G] NM_015325 KIAA0947 EXON Missense_A1739T exm443253 5 5464962 [A/G] NM_015325 KIAA0947 EXON Missense_T1839A exm443259 5 5465316 [T/C] NM_015325 KIAA0947 EXON Missense_Y1957H exm443271 5 5486896 [G/C] NM_015325 KIAA0947 EXON Missense_V2195L exm2270181 5 5725162 [T/C] exm2257282 5 5753732 [A/G] exm-rs32566 5 5792507 [T/C] exm-rs7728043 5 5897694 [T/C] exm2257304 5 6454662 [A/G] NM_001145161 UBE2QL1 Silent exm443327 5 6600064 [T/G] NM_017755,NM_001193455,NR_037947 NSUN2,NSUN2,NSUN2 EXON Missense_P760Q,Missense_P725Q,Silent exm443328 5 6600071 [A/G] NM_017755,NM_001193455,NR_037947 NSUN2,NSUN2,NSUN2 EXON Missense_C758R,Missense_C723R,Silent exm443332 5 6600133 [G/C] NM_017755,NM_001193455,NR_037947 NSUN2,NSUN2,NSUN2 EXON Missense_R737T,Missense_R702T,Silent exm443335 5 6600155 [T/C] NM_017755,NM_001193455,NR_037947 NSUN2,NSUN2,NSUN2 EXON Missense_N730D,Missense_N695D,Silent exm443339 5 6600200 [T/C] NM_017755,NM_001193455,NR_037947 NSUN2,NSUN2,NSUN2 EXON Missense_V715I,Missense_V680I,Silent exm443352 5 6602574 [A/G] NM_017755,NM_001193455,NR_037947 NSUN2,NSUN2,NSUN2 EXON Missense_A666V,Missense_A631V,Silent exm443357 5 6604329 [T/C] NM_017755,NM_001193455,NR_037947 NSUN2,NSUN2,NSUN2 EXON Missense_V627I,Missense_V592I,Silent exm2257310 5 6604787 [T/C] NM_017755,NM_001193455,NR_037947 NSUN2,NSUN2,NSUN2 EXON Synonymous_T583T,Synonymous_T548T,Silent exm443377 5 6607370 [T/A] NM_017755,NM_001193455,NR_037947 NSUN2,NSUN2,NSUN2 EXON Missense_I484K,Missense_I449K,Silent exm443398 5 6616948 [A/G] NM_017755,NM_001193455,NR_037947 NSUN2,NSUN2,NSUN2 EXON Missense_R305C,Missense_R270C,Silent exm443409 5 6620271 [T/C] NM_017755,NM_001193455,NR_037947 NSUN2,NSUN2,NSUN2 EXON Missense_G255S,Missense_G220S,Silent exm443422 5 6623335 [A/G] NM_017755,NM_001193455,NR_037947 NSUN2,NSUN2,NSUN2 EXON Missense_H177Y,Missense_H142Y,Silent exm443431 5 6632053 [A/G] NM_017755,NM_001193455,NR_037947 NSUN2,NSUN2,NSUN2 EXON Missense_Y98H,Silent,Silent exm2257312 5 6632087 [A/G] NM_017755,NM_001193455,NR_037947 NSUN2,NSUN2,NSUN2 EXON Synonymous_H86H,Silent,Silent exm443433 5 6632087 [A/G] NM_017755,NM_001193455,NR_037947 NSUN2,NSUN2,NSUN2 EXON Synonymous_H86H,Silent,Silent exm443469 5 6652043 [A/G] NM_001047 SRD5A1 EXON Missense_G128S exm-rs116364 5 6699224 [T/C] exm443499 5 6743825 [A/G] NM_006999,NM_001171805 PAPD7,PAPD7 EXON Missense_K123E,Missense_K123E exm443535 5 6751207 [T/C] NM_006999,NM_001171805,NM_001171806 PAPD7,PAPD7,PAPD7 EXON Missense_A389V,Missense_A389V,Missense_A209V exm443567 5 6755035 [C/G] NM_006999,NM_001171805,NM_001171806 PAPD7,PAPD7,PAPD7 EXON Missense_L536V,Missense_L535V,Missense_L356V exm-rs11134178 5 6834167 [T/C] exm2257321 5 6913626 [T/G] exm-rs7729273 5 7228047 [T/C] exm2265907 5 7272401 [A/G] exm443595 5 7520881 [T/G] NM_020546 ADCY2 EXON Missense_V147L exm443599 5 7520929 [A/G] NM_020546 ADCY2 EXON Missense_V163I exm443603 5 7520980 [A/G] NM_020546 ADCY2 EXON Missense_T180A exm443604 5 7520998 [G/C] NM_020546 ADCY2 EXON Missense_H186D exm2261969 5 7527521 [T/G] NM_020546 ADCY2 Silent exm443632 5 7707862 [A/G] NM_020546 ADCY2 EXON Missense_A438T exm443637 5 7709334 [A/G] NM_020546 ADCY2 EXON Missense_R471Q exm443647 5 7724723 [A/C] NM_020546 ADCY2 EXON Missense_K590T exm443656 5 7743787 [T/C] NM_020546 ADCY2 EXON Synonymous_S626S exm2257347 5 7743787 [T/C] NM_020546 ADCY2 EXON Synonymous_S626S exm443661 5 7757628 [T/C] NM_020546 ADCY2 EXON Missense_R675C exm443662 5 7757647 [C/G] NM_020546 ADCY2 EXON Missense_S681C exm443665 5 7757697 [A/C] NM_020546 ADCY2 EXON Missense_M698L exm443668 5 7766836 [A/G] NM_020546 ADCY2 EXON Missense_T711A exm2104596 5 7766864 [T/C] NM_020546 ADCY2 EXON Missense_S720L exm443670 5 7766894 [A/G] NM_020546 ADCY2 EXON Missense_R730H exm443679 5 7773202 [T/A] NM_020546 ADCY2 EXON Missense_V791D exm443681 5 7784478 [A/G] NM_020546 ADCY2 EXON Synonymous_R795R exm443689 5 7789870 [T/C] NM_020546 ADCY2 EXON Missense_A862V exm2261973 5 7797766 [A/G] NM_020546 ADCY2 Silent exm443717 5 7817036 [A/G] NM_020546 ADCY2 EXON Missense_V981I exm443720 5 7826853 [A/G] NM_020546 ADCY2 EXON Missense_V1049I exm443730 5 7831992 [A/G] NM_001089584 C5orf49 EXON Missense_P139S exm443735 5 7832048 [T/G] NM_001089584 C5orf49 EXON Missense_A120D exm443737 5 7832052 [A/G] NM_001089584 C5orf49 EXON Missense_R119C exm443744 5 7832129 [A/G] NM_001089584 C5orf49 EXON Missense_P93L exm443746 5 7835500 [T/C] NM_001089584 C5orf49 EXON Missense_E87K exm443750 5 7835545 [A/G] NM_001089584 C5orf49 EXON Nonsense_R72X exm443752 5 7835572 [A/G] NM_001089584 C5orf49 EXON Missense_R63C exm443772 5 7861279 [T/C] NM_024091,NR_036553,NR_073608 FASTKD3,FASTKD3,FASTKD3 EXON Missense_G623S,Silent,Silent exm443778 5 7861694 [A/G] NM_024091,NR_036553,NR_073608 FASTKD3,FASTKD3,FASTKD3 Silent,Silent,Silent exm443785 5 7862987 [T/C] NM_024091,NR_036553,NR_073608 FASTKD3,FASTKD3,FASTKD3 EXON Missense_A550T,Silent,Silent exm443791 5 7866822 [G/C] NM_024091,NR_036553,NR_073608 FASTKD3,FASTKD3,FASTKD3 EXON Missense_E459Q,Silent,Silent exm443795 5 7866906 [T/G] NM_024091,NR_036553,NR_073608 FASTKD3,FASTKD3,FASTKD3 EXON Missense_K431Q,Silent,Silent exm443797 5 7866929 [A/G] NM_024091,NR_036553,NR_073608 FASTKD3,FASTKD3,FASTKD3 EXON Missense_P423L,Silent,Silent exm443808 5 7867089 [A/C] NM_024091,NR_036553,NR_073608 FASTKD3,FASTKD3,FASTKD3 EXON Missense_V370F,Silent,Silent exm443812 5 7867115 [A/G] NM_024091,NR_036553,NR_073608 FASTKD3,FASTKD3,FASTKD3 EXON Missense_A361V,Silent,Silent exm443828 5 7867353 [T/C] NM_024091,NR_036553,NR_073608 FASTKD3,FASTKD3,FASTKD3 EXON Missense_N282D,Silent,Silent exm443839 5 7867568 [T/C] NM_024091,NR_036553,NR_073608 FASTKD3,FASTKD3,FASTKD3 EXON Missense_K210R,Silent,Silent exm443849 5 7867919 [T/C] NM_024091,NR_036553,NR_073608 FASTKD3,FASTKD3,FASTKD3 EXON Missense_N93S,Silent,Silent exm443850 5 7867920 [T/G] NM_024091,NR_036553,NR_073608 FASTKD3,FASTKD3,FASTKD3 EXON Missense_N93H,Silent,Silent exm443856 5 7868030 [T/C] NM_024091,NR_036553,NR_073608 FASTKD3,FASTKD3,FASTKD3 EXON Missense_K56R,Silent,Silent exm443857 5 7868034 [A/C] NM_024091,NR_036553,NR_073608 FASTKD3,FASTKD3,FASTKD3 EXON Missense_V55F,Silent,Silent exm2242754 5 7868188 [T/A] NM_024091,NR_036553,NR_073608 FASTKD3,FASTKD3,FASTKD3 EXON Missense_L3F,Silent,Silent exm2104824 5 7869328 [T/G] NM_002454,NM_024010 MTRR,MTRR EXON Silent,Silent exm443883 5 7870973 [A/G] NM_002454,NM_024010 MTRR,MTRR EXON Missense_I22M,Missense_I49M exm443902 5 7875448 [T/C] NM_002454,NM_024010 MTRR,MTRR EXON Missense_R121W,Missense_R148W exm443905 5 7875470 [A/G] NM_002454,NM_024010 MTRR,MTRR EXON Missense_H128R,Missense_H155R exm443907 5 7878101 [T/C] NM_002454,NM_024010 MTRR,MTRR EXON Missense_A149V,Missense_A176V exm443913 5 7878160 [A/G] NM_002454,NM_024010 MTRR,MTRR EXON Missense_V169M,Missense_V196M exm443916 5 7878179 [T/C] NM_002454,NM_024010 MTRR,MTRR EXON Missense_S175L,Missense_S202L exm443919 5 7878229 [A/G] NM_002454,NM_024010 MTRR,MTRR EXON Missense_E192K,Missense_E219K exm2242756 5 7878244 [G/C] NM_002454,NM_024010 MTRR,MTRR EXON Missense_D197H,Missense_D224H exm443928 5 7878394 [T/C] NM_002454,NM_024010 MTRR,MTRR EXON Missense_P247S,Missense_P274S exm443932 5 7878424 [T/A] NM_002454,NM_024010 MTRR,MTRR EXON Missense_S257T,Missense_S284T exm443936 5 7883344 [T/C] NM_002454,NM_024010 MTRR,MTRR EXON Missense_T286M,Missense_T313M exm443938 5 7883356 [T/C] NM_002454,NM_024010 MTRR,MTRR EXON Missense_I290T,Missense_I317T exm443944 5 7885868 [A/G] NM_002454,NM_024010 MTRR,MTRR EXON Missense_S320G,Missense_S347G exm443946 5 7885907 [G/C] NM_002454,NM_024010 MTRR,MTRR EXON Missense_L333V,Missense_L360V exm443948 5 7885931 [A/G] NM_002454,NM_024010 MTRR,MTRR EXON Missense_V341I,Missense_V368I exm443950 5 7885959 [A/G] NM_002454,NM_024010 MTRR,MTRR EXON Missense_K350R,Missense_K377R exm443955 5 7889243 [C/G] NM_002454,NM_024010 MTRR,MTRR EXON Missense_D394E,Missense_D421E exm443957 5 7889304 [T/C] NM_002454,NM_024010 MTRR,MTRR EXON Missense_R415C,Missense_R442C exm443961 5 7889387 [T/C] NM_002454,NM_024010 MTRR,MTRR EXON Synonymous_L442L,Synonymous_L469L exm443963 5 7891506 [C/G] NM_002454,NM_024010 MTRR,MTRR EXON Missense_P450R,Missense_P477R exm443970 5 7892937 [A/G] NM_002454,NM_024010 MTRR,MTRR EXON Missense_T490A,Missense_T517A exm443974 5 7893006 [A/G] NM_002454,NM_024010 MTRR,MTRR EXON Missense_G513R,Missense_G540R exm443975 5 7893013 [T/C] NM_002454,NM_024010 MTRR,MTRR EXON Missense_A515V,Missense_A542V exm2104901 5 7895961 [A/C] NM_002454,NM_024010 MTRR,MTRR EXON Missense_H558N,Missense_H585N exm2257352 5 7897061 [T/C] NM_002454,NM_024010 MTRR,MTRR EXON Synonymous_Y587Y,Synonymous_Y614Y exm443990 5 7897061 [T/C] NM_002454,NM_024010 MTRR,MTRR EXON Synonymous_Y587Y,Synonymous_Y614Y exm443992 5 7897185 [T/C] NM_002454,NM_024010 MTRR,MTRR EXON Missense_L593F,Missense_L620F exm443993 5 7897191 [T/C] NM_002454,NM_024010 MTRR,MTRR EXON Missense_H595Y,Missense_H622Y exm443995 5 7897227 [A/G] NM_002454,NM_024010 MTRR,MTRR EXON Missense_V607I,Missense_V634I exm444005 5 7900056 [A/G] NM_002454,NM_024010 MTRR,MTRR EXON Missense_H661R,Missense_H688R exm444006 5 7900080 [A/G] NM_002454,NM_024010 MTRR,MTRR EXON Missense_S669N,Missense_S696N exm444008 5 7900145 [T/C] NM_002454,NM_024010 MTRR,MTRR EXON Missense_R691C,Missense_R718C exm2265908 5 8012069 [A/G] exm2270010 5 8276128 [T/C] exm2265909 5 8837390 [A/G] exm2273402 5 9041924 [T/C] NM_003966 SEMA5A EXON Silent exm2273403 5 9041935 [A/G] NM_003966 SEMA5A EXON Silent exm444016 5 9044505 [T/C] NM_003966 SEMA5A EXON Missense_D1029N exm444022 5 9044582 [A/G] NM_003966 SEMA5A EXON Missense_A1003V exm444024 5 9044606 [T/C] NM_003966 SEMA5A EXON Missense_R995Q exm444033 5 9050543 [T/C] NM_003966 SEMA5A EXON Missense_V958I exm444035 5 9050549 [T/C] NM_003966 SEMA5A EXON Missense_S956G exm2257394 5 9052013 [T/C] NM_003966 SEMA5A EXON Synonymous_P939P exm444043 5 9052036 [T/C] NM_003966 SEMA5A EXON Missense_G932R exm444057 5 9054313 [T/C] NM_003966 SEMA5A EXON Missense_G859S exm444067 5 9063124 [T/C] NM_003966 SEMA5A EXON Missense_R798H exm444078 5 9066560 [A/C] NM_003966 SEMA5A EXON Missense_D758Y exm444084 5 9066665 [T/C] NM_003966 SEMA5A EXON Missense_G723S exm444101 5 9122781 [T/C] NM_003966 SEMA5A EXON Missense_A590T exm444109 5 9122898 [A/G] NM_003966 SEMA5A EXON Missense_P551S exm444115 5 9136617 [A/G] NM_003966 SEMA5A EXON Missense_P533L exm444118 5 9136647 [A/G] NM_003966 SEMA5A EXON Missense_T523M exm444121 5 9136725 [A/G] NM_003966 SEMA5A EXON Missense_I497T exm444130 5 9154774 [A/T] NM_003966 SEMA5A EXON Missense_L436Q exm-rs2526122 5 9158180 [T/C] NM_003966 SEMA5A Silent exm444146 5 9190574 [T/C] NM_003966 SEMA5A EXON Missense_V360M exm444159 5 9197387 [T/C] NM_003966 SEMA5A EXON Missense_V321I exm444166 5 9202121 [T/C] NM_003966 SEMA5A EXON Missense_S293N exm444170 5 9202199 [T/G] NM_003966 SEMA5A EXON Missense_T267N exm444183 5 9226981 [T/C] NM_003966 SEMA5A EXON Synonymous_S144S exm444184 5 9226982 [A/G] NM_003966 SEMA5A EXON Missense_S144L exm444187 5 9227033 [T/C] NM_003966 SEMA5A EXON Missense_R127Q exm444188 5 9227034 [A/G] NM_003966 SEMA5A EXON Missense_R127W exm-rs7702187 5 9332281 [T/A] NM_003966 SEMA5A Silent exm444206 5 9379979 [A/G] NM_003966 SEMA5A EXON Missense_T27M exm-rs11134354 5 9421794 [A/G] NM_003966 SEMA5A Silent exm2257405 5 9463291 [A/C] NM_003966 SEMA5A Silent exm-rs10513025 5 9623622 [T/C] exm444221 5 9629478 [A/G] NM_019599 TAS2R1 EXON Missense_P223S exm2106936 5 9629505 [C/G] NM_019599 TAS2R1 EXON Missense_G214R exm444225 5 9629529 [A/G] NM_019599 TAS2R1 EXON Missense_R206W exm444234 5 9629723 [T/C] NM_019599 TAS2R1 EXON Missense_C141Y exm444239 5 9629813 [T/C] NM_019599 TAS2R1 EXON Missense_R111H exm444249 5 9630017 [A/G] NM_019599 TAS2R1 EXON Missense_P43L exm2265910 5 9792158 [A/G] NR_027112 LOC285692 Silent exm444254 5 10227566 [C/G] NR_047670,NR_047668,NR_047669,NM_001258388,NM_199133,NM_001258389 FAM173B,FAM173B,FAM173B,FAM173B,FAM173B,FAM173B EXON Silent,Silent,Silent,Missense_P213R,Missense_P230R,Silent exm444256 5 10227605 [A/C] NR_047670,NR_047668,NR_047669,NM_001258388,NM_199133,NM_001258389 FAM173B,FAM173B,FAM173B,FAM173B,FAM173B,FAM173B EXON Silent,Silent,Silent,Missense_R200L,Missense_R217L,Silent exm444257 5 10227648 [T/C] NR_047670,NR_047668,NR_047669,NM_001258388,NM_199133,NM_001258389 FAM173B,FAM173B,FAM173B,FAM173B,FAM173B,FAM173B EXON Silent,Silent,Silent,Missense_I186V,Missense_I203V,Silent exm444260 5 10227711 [A/G] NR_047670,NR_047668,NR_047669,NM_001258388,NM_199133,NM_001258389 FAM173B,FAM173B,FAM173B,FAM173B,FAM173B,FAM173B EXON Silent,Silent,Silent,Nonsense_R165X,Nonsense_R182X,Silent exm444269 5 10236641 [T/C] NR_047670,NR_047668,NR_047669,NM_001258388,NM_199133,NM_001258389 FAM173B,FAM173B,FAM173B,FAM173B,FAM173B,FAM173B EXON Silent,Silent,Silent,Nonsense_W131X,Nonsense_W131X,Nonsense_W131X exm444272 5 10236649 [A/G] NR_047670,NR_047668,NR_047669,NM_001258388,NM_199133,NM_001258389 FAM173B,FAM173B,FAM173B,FAM173B,FAM173B,FAM173B EXON Silent,Silent,Silent,Missense_R129C,Missense_R129C,Missense_R129C exm444274 5 10236693 [A/G] NR_047670,NR_047668,NR_047669,NM_001258388,NM_199133,NM_001258389 FAM173B,FAM173B,FAM173B,FAM173B,FAM173B,FAM173B EXON Silent,Silent,Silent,Missense_V114A,Missense_V114A,Missense_V114A exm444276 5 10236714 [A/G] NR_047670,NR_047668,NR_047669,NM_001258388,NM_199133,NM_001258389 FAM173B,FAM173B,FAM173B,FAM173B,FAM173B,FAM173B EXON Silent,Silent,Silent,Missense_A107V,Missense_A107V,Missense_A107V exm444277 5 10236720 [A/G] NR_047670,NR_047668,NR_047669,NM_001258388,NM_199133,NM_001258389 FAM173B,FAM173B,FAM173B,FAM173B,FAM173B,FAM173B EXON Silent,Silent,Silent,Missense_A105V,Missense_A105V,Missense_A105V exm444282 5 10239233 [A/C] NR_047670,NR_047668,NR_047669,NM_001258388,NM_199133,NM_001258389 FAM173B,FAM173B,FAM173B,FAM173B,FAM173B,FAM173B EXON Silent,Silent,Silent,Missense_M84I,Missense_M84I,Missense_M84I exm444285 5 10239261 [A/G] NR_047670,NR_047668,NR_047669,NM_001258388,NM_199133,NM_001258389 FAM173B,FAM173B,FAM173B,FAM173B,FAM173B,FAM173B EXON Silent,Silent,Silent,Missense_T75M,Missense_T75M,Missense_T75M exm2256819 5 10239278 [T/C] NR_047670,NR_047668,NR_047669,NM_001258388,NM_199133,NM_001258389 FAM173B,FAM173B,FAM173B,FAM173B,FAM173B,FAM173B EXON Silent,Silent,Silent,Synonymous_P69P,Synonymous_P69P,Synonymous_P69P exm444287 5 10239295 [A/G] NR_047670,NR_047668,NR_047669,NM_001258388,NM_199133,NM_001258389 FAM173B,FAM173B,FAM173B,FAM173B,FAM173B,FAM173B EXON Silent,Silent,Silent,Nonsense_R64X,Nonsense_R64X,Nonsense_R64X exm444307 5 10250538 [T/C] NM_012073 CCT5 EXON Missense_M29T exm2270185 5 10255821 [T/C] NM_012073 CCT5 Silent exm444330 5 10256186 [A/G] NM_012073 CCT5 EXON Missense_I151V exm444353 5 10260925 [G/C] NM_012073 CCT5 EXON Missense_L299V exm2083235 5 10261748 [A/G] NM_012073 CCT5 EXON Missense_G357D exm2241494 5 10261753 [A/G] NM_012073 CCT5 EXON Missense_V359I exm444364 5 10261764 [C/G] NM_012073 CCT5 EXON Missense_I362M exm2256822 5 10262607 [A/G] NM_012073 CCT5 EXON Synonymous_A398A exm2241495 5 10262696 [C/G] NM_012073 CCT5 EXON Missense_S428C exm444389 5 10264788 [A/G] NM_012073 CCT5 EXON Missense_I507V exm444394 5 10280570 [T/G] NM_138809 CMBL EXON Missense_M245L exm444396 5 10280590 [A/G] NM_138809 CMBL EXON Missense_I238T exm444398 5 10280653 [T/C] NM_138809 CMBL EXON Missense_R217Q exm444400 5 10280729 [A/G] NM_138809 CMBL EXON Nonsense_Q192X exm444401 5 10280740 [A/G] NM_138809 CMBL EXON Missense_S188F exm2083252 5 10282309 [A/G] NM_138809 CMBL EXON Synonymous_D186D exm444410 5 10286468 [T/C] NM_138809 CMBL EXON Missense_Y155C exm444412 5 10286484 [T/C] NM_138809 CMBL EXON Missense_A150T exm444414 5 10286547 [T/C] NM_138809 CMBL EXON Missense_V129M exm444415 5 10286549 [A/G] NM_138809 CMBL EXON Missense_I128T exm444421 5 10288597 [A/G] NM_138809 CMBL EXON Missense_P87L exm444422 5 10288598 [G/C] NM_138809 CMBL EXON Missense_P87A exm444427 5 10290660 [A/G] NM_138809 CMBL EXON Missense_T72I exm444428 5 10290703 [T/C] NM_138809 CMBL EXON Missense_N58D exm444458 5 10390556 [A/G] NM_001270661,NM_001270660,NM_005885 MARCH6,MARCH6,MARCH6 EXON Missense_I69V,Missense_I126V,Missense_I174V exm444459 5 10390581 [T/C] NM_001270661,NM_001270660,NM_005885 MARCH6,MARCH6,MARCH6 EXON Missense_P77L,Missense_P134L,Missense_P182L exm444465 5 10391681 [A/G] NM_001270661,NM_001270660,NM_005885 MARCH6,MARCH6,MARCH6 EXON Missense_N97D,Missense_N154D,Missense_N202D exm444481 5 10402533 [A/G] NM_001270661,NM_001270660,NM_005885 MARCH6,MARCH6,MARCH6 EXON Missense_R259H,Missense_R316H,Missense_R364H exm444503 5 10411578 [A/C] NM_001270661,NM_001270660,NM_005885 MARCH6,MARCH6,MARCH6 EXON Missense_Q504K,Missense_Q561K,Missense_Q609K exm444505 5 10411635 [A/C] NM_001270661,NM_001270660,NM_005885 MARCH6,MARCH6,MARCH6 EXON Missense_N523H,Missense_N580H,Missense_N628H exm2083357 5 10415633 [T/C] NM_001270661,NM_001270660,NM_005885 MARCH6,MARCH6,MARCH6 EXON Missense_T562M,Missense_T619M,Missense_T667M exm444533 5 10448375 [T/A] NM_031916,NM_001201466 ROPN1L,ROPN1L EXON Nonsense_Y45X,Nonsense_Y45X exm444535 5 10448403 [T/C] NM_031916,NM_001201466 ROPN1L,ROPN1L EXON Missense_L55F,Missense_L55F exm444543 5 10450062 [A/G] NM_031916,NM_001201466 ROPN1L,ROPN1L Silent,Silent exm444544 5 10450107 [A/T] NM_031916,NM_001201466 ROPN1L,ROPN1L EXON Missense_K100M,Missense_K100M exm444547 5 10450146 [T/C] NM_031916,NM_001201466 ROPN1L,ROPN1L EXON Missense_A113V,Missense_A113V exm444559 5 10461378 [T/C] NM_031916,NM_001201466 ROPN1L,ROPN1L EXON Missense_T167M,Missense_T167M exm444561 5 10461395 [T/C] NM_031916,NM_001201466 ROPN1L,ROPN1L EXON Missense_R173C,Missense_R173C exm444563 5 10461438 [C/G] NM_031916,NM_001201466 ROPN1L,ROPN1L EXON Missense_T187R,Missense_T187R exm444567 5 10464960 [A/C] NM_031916,NM_001201466 ROPN1L,ROPN1L EXON Synonymous_I198I,Synonymous_I198I exm444569 5 10465022 [T/C] NM_031916,NM_001201466 ROPN1L,ROPN1L EXON Missense_L219S,Missense_L219S exm2083389 5 10465051 [A/G] NM_031916,NM_001201466 ROPN1L,ROPN1L EXON Missense_G229S,Missense_G229S exm-rs1092913 5 10467702 [A/G] exm-rs2962330 5 10481725 [A/G] exm2264113 5 10506997 [A/C] exm444575 5 10638148 [A/G] NM_001164440 ANKRD33B EXON Missense_I169V exm444599 5 10681269 [T/A] NM_004394 DAP EXON Missense_F70I exm444604 5 10683642 [T/C] NM_004394 DAP EXON Missense_R65Q exm444605 5 10683679 [A/G] NM_004394 DAP EXON Missense_P53S exm-rs267939 5 10752315 [T/C] NM_004394 DAP Silent exm444657 5 11022918 [T/C] NM_001332 CTNND2 EXON Missense_E988K exm2256851 5 11087563 [A/G] NM_001332 CTNND2 Silent exm2256855 5 11159846 [A/G] NM_001332 CTNND2 EXON Synonymous_C667C exm444703 5 11159846 [A/G] NM_001332 CTNND2 EXON Synonymous_C667C exm2270011 5 11303908 [T/C] NM_001332 CTNND2 Silent exm444717 5 11346514 [A/G] NM_001332 CTNND2 EXON Missense_P533L exm444722 5 11346592 [T/G] NM_001332 CTNND2 EXON Missense_Q507P exm444727 5 11346668 [T/C] NM_001332 CTNND2 EXON Missense_A482T exm444735 5 11364898 [T/C] NM_001332 CTNND2 EXON Missense_V428I exm2261807 5 11429782 [A/C] NM_001332 CTNND2 Silent exm444773 5 11565081 [C/G] NM_001332 CTNND2 EXON Missense_E88Q exm444778 5 11732322 [T/C] NM_001332 CTNND2 EXON Missense_G34S exm444779 5 11732346 [C/G] NM_001332 CTNND2 EXON Missense_E26Q exm2266056 5 11742668 [A/G] NM_001332 CTNND2 Silent exm2256880 5 11871700 [A/G] NM_001332 CTNND2 Silent exm2270186 5 12714599 [T/C] NR_033383 CT49 Silent exm2265913 5 12911942 [A/G] exm2270187 5 13147070 [T/C] exm444784 5 13692131 [T/C] NM_001369 DNAH5 EXON Missense_V4613M exm444785 5 13692190 [A/G] NM_001369 DNAH5 EXON Missense_T4593M exm444794 5 13700902 [T/C] NM_001369 DNAH5 EXON Missense_D4524N exm444795 5 13700903 [T/G] NM_001369 DNAH5 EXON Missense_D4523E exm444797 5 13701398 [A/G] NM_001369 DNAH5 EXON Nonsense_R4496X exm444799 5 13701422 [T/G] NM_001369 DNAH5 EXON Missense_P4488T exm444807 5 13701536 [T/C] NM_001369 DNAH5 EXON Missense_I4450V exm444822 5 13714566 [T/C] NM_001369 DNAH5 EXON Missense_R4358Q exm444829 5 13714716 [T/C] NM_001369 DNAH5 EXON Missense_Y4308C exm444834 5 13716796 [T/C] NM_001369 DNAH5 EXON Missense_V4237I exm444838 5 13717471 [T/C] NM_001369 DNAH5 EXON Missense_T4220A exm444845 5 13717606 [T/C] NM_001369 DNAH5 EXON Missense_V4175M exm444848 5 13719018 [A/G] NM_001369 DNAH5 EXON Missense_R4158W exm2256950 5 13719025 [T/C] NM_001369 DNAH5 EXON Synonymous_Q4155Q exm444855 5 13719089 [A/G] NM_001369 DNAH5 EXON Missense_A4134V exm444856 5 13719111 [A/G] NM_001369 DNAH5 EXON Missense_R4127C exm2087379 5 13719123 [A/G] NM_001369 DNAH5 EXON Missense_H4123Y exm444858 5 13719129 [A/G] NM_001369 DNAH5 EXON Missense_L4121F exm444859 5 13719141 [T/C] NM_001369 DNAH5 EXON Missense_I4117V exm444860 5 13719144 [T/C] NM_001369 DNAH5 EXON Missense_I4116V exm444866 5 13721137 [T/C] NM_001369 DNAH5 EXON Missense_R4084Q exm444877 5 13721284 [A/G] NM_001369 DNAH5 EXON Missense_T4035M exm2241699 5 13721312 [T/C] NM_001369 DNAH5 EXON Missense_E4026K exm2087437 5 13727695 [T/C] NM_001369 DNAH5 EXON Missense_N3985S exm444890 5 13729628 [T/A] NM_001369 DNAH5 EXON Missense_S3935T exm444903 5 13736021 [A/G] NM_001369 DNAH5 EXON Missense_L3826F exm444910 5 13737379 [A/G] NM_001369 DNAH5 EXON Missense_R3813W exm444913 5 13737444 [A/G] NM_001369 DNAH5 EXON Missense_T3791I exm444917 5 13737582 [T/C] NM_001369 DNAH5 EXON Missense_H3745R exm444918 5 13751258 [T/C] NM_001369 DNAH5 EXON Missense_I3714V exm444928 5 13752311 [G/C] NM_001369 DNAH5 EXON Missense_E3654Q exm444941 5 13754410 [A/G] NM_001369 DNAH5 EXON Missense_M3486T exm444943 5 13754425 [T/C] NM_001369 DNAH5 EXON Missense_R3481Q exm444945 5 13754432 [T/C] NM_001369 DNAH5 EXON Missense_A3479T exm444951 5 13759007 [A/G] NM_001369 DNAH5 EXON Missense_A3456V exm444954 5 13759051 [T/C] NM_001369 DNAH5 EXON Missense_M3441I exm444958 5 13762883 [A/G] NM_001369 DNAH5 EXON Missense_T3410M exm444960 5 13762920 [A/G] NM_001369 DNAH5 EXON Missense_R3398C exm-rs2896103 5 13764419 [A/G] NM_001369 DNAH5 Silent exm444967 5 13766150 [T/C] NM_001369 DNAH5 EXON Missense_T3346A exm444971 5 13766245 [T/C] NM_001369 DNAH5 EXON Missense_R3314H exm444979 5 13769185 [T/C] NM_001369 DNAH5 EXON Missense_K3261E exm2087723 5 13769215 [A/C] NM_001369 DNAH5 EXON Missense_A3251S exm-rs7715811 5 13769974 [T/C] NM_001369 DNAH5 Silent exm444993 5 13770960 [T/C] NM_001369 DNAH5 EXON Missense_R3168Q exm444998 5 13771002 [T/G] NM_001369 DNAH5 EXON Missense_D3154A exm445000 5 13771053 [T/C] NM_001369 DNAH5 EXON Missense_C3137Y exm445002 5 13776566 [T/C] NM_001369 DNAH5 EXON Missense_K3119E exm445004 5 13776677 [T/G] NM_001369 DNAH5 EXON Missense_L3082I exm445008 5 13776718 [T/C] NM_001369 DNAH5 EXON Missense_E3068G exm445014 5 13777417 [T/C] NM_001369 DNAH5 EXON Missense_R3000Q exm445016 5 13777456 [T/A] NM_001369 DNAH5 EXON Missense_N2987I exm-rs1502050 5 13779743 [T/C] NM_001369 DNAH5 Silent exm445019 5 13780953 [T/C] NM_001369 DNAH5 EXON Missense_Q2979R exm445030 5 13781052 [T/C] NM_001369 DNAH5 EXON Missense_R2946H exm445033 5 13786303 [G/C] NM_001369 DNAH5 EXON Missense_M2935I exm445037 5 13786351 [G/C] NM_001369 DNAH5 EXON Missense_E2919D exm445040 5 13786377 [T/C] NM_001369 DNAH5 EXON Missense_N2911D exm445041 5 13786383 [A/G] NM_001369 DNAH5 EXON Missense_R2909C exm445046 5 13788886 [A/C] NM_001369 DNAH5 EXON Missense_L2862F exm445050 5 13788990 [A/G] NM_001369 DNAH5 EXON Missense_R2828C exm2241732 5 13792141 [T/C] NM_001369 DNAH5 EXON Missense_M2804V exm445069 5 13793711 [A/G] NM_001369 DNAH5 EXON Missense_R2713C exm445073 5 13793789 [T/C] NM_001369 DNAH5 EXON Missense_N2687D exm445077 5 13794053 [T/C] NM_001369 DNAH5 EXON Missense_G2668R exm445078 5 13794057 [A/C] NM_001369 DNAH5 EXON Missense_E2666D exm445082 5 13794112 [A/G] NM_001369 DNAH5 EXON Missense_A2648V exm445090 5 13809164 [T/C] NM_001369 DNAH5 EXON Missense_K2581E exm445092 5 13809221 [A/T] NM_001369 DNAH5 EXON Missense_I2562F exm445106 5 13811775 [T/C] NM_001369 DNAH5 EXON Missense_Q2463R exm445110 5 13811889 [T/C] NM_001369 DNAH5 EXON Missense_R2425H exm445116 5 13814838 [A/G] NM_001369 DNAH5 EXON Missense_M2369T exm445120 5 13814926 [T/G] NM_001369 DNAH5 EXON Missense_P2340T exm445123 5 13817675 [T/C] NM_001369 DNAH5 EXON Missense_T2324A exm445125 5 13817689 [A/G] NM_001369 DNAH5 EXON Missense_T2319M exm445127 5 13817726 [T/C] NM_001369 DNAH5 EXON Missense_V2307I exm445133 5 13820544 [A/G] NM_001369 DNAH5 EXON Missense_T2251M exm445134 5 13820548 [T/C] NM_001369 DNAH5 EXON Missense_E2250K exm445137 5 13820581 [A/G] NM_001369 DNAH5 EXON Missense_P2239S exm445139 5 13820593 [A/C] NM_001369 DNAH5 EXON Missense_L2235V exm445145 5 13823427 [T/C] NM_001369 DNAH5 EXON Missense_N2211S exm445151 5 13824358 [C/G] NM_001369 DNAH5 EXON Missense_E2177Q exm445165 5 13830149 [A/G] NM_001369 DNAH5 EXON Missense_L2079F exm445166 5 13830154 [A/G] NM_001369 DNAH5 EXON Missense_F2077S exm445173 5 13830718 [A/G] NM_001369 DNAH5 EXON Missense_R2017W exm445179 5 13830823 [T/C] NM_001369 DNAH5 EXON Missense_A1982T exm445198 5 13841100 [A/G] NM_001369 DNAH5 EXON Missense_T1875M exm445201 5 13841196 [T/G] NM_001369 DNAH5 EXON Missense_E1843A exm445204 5 13841847 [T/C] NM_001369 DNAH5 EXON Missense_E1813G exm445207 5 13841872 [A/G] NM_001369 DNAH5 EXON Missense_R1805C exm445211 5 13842004 [G/C] NM_001369 DNAH5 EXON Missense_R1761G exm445215 5 13844951 [T/C] NM_001369 DNAH5 EXON Missense_E1756K exm445226 5 13845080 [A/G] NM_001369 DNAH5 EXON Missense_C1713R exm445237 5 13850914 [T/C] NM_001369 DNAH5 EXON Missense_R1654Q exm445239 5 13859587 [T/C] NM_001369 DNAH5 EXON Missense_G1642R exm445256 5 13862766 [T/C] NM_001369 DNAH5 EXON Missense_G1563S exm445266 5 13864577 [T/C] NM_001369 DNAH5 EXON Missense_V1509M exm445267 5 13864592 [G/C] NM_001369 DNAH5 EXON Missense_G1504R exm445272 5 13864660 [A/G] NM_001369 DNAH5 EXON Missense_P1481L exm445277 5 13864729 [T/C] NM_001369 DNAH5 EXON Missense_R1458Q exm445279 5 13864742 [A/G] NM_001369 DNAH5 EXON Nonsense_R1454X exm445289 5 13865874 [T/C] NM_001369 DNAH5 EXON Missense_N1420D exm445299 5 13866375 [T/C] NM_001369 DNAH5 EXON Missense_S1357N exm445316 5 13870935 [T/C] NM_001369 DNAH5 EXON Missense_A1259T exm445320 5 13870976 [T/C] NM_001369 DNAH5 EXON Missense_R1245H exm445321 5 13870977 [A/G] NM_001369 DNAH5 EXON Missense_R1245C exm445323 5 13871054 [T/C] NM_001369 DNAH5 EXON Missense_R1219H exm445325 5 13871060 [A/G] NM_001369 DNAH5 EXON Missense_I1217T exm445330 5 13871757 [T/G] NM_001369 DNAH5 EXON Missense_Q1172K exm445335 5 13871843 [T/C] NM_001369 DNAH5 EXON Missense_R1143H exm445342 5 13876888 [T/C] NM_001369 DNAH5 EXON Missense_V1101M exm2088196 5 13876926 [T/C] NM_001369 DNAH5 EXON Missense_D1088G exm445345 5 13882858 [T/C] NM_001369 DNAH5 EXON Missense_M1081V exm2088207 5 13882897 [G/C] NM_001369 DNAH5 EXON Missense_A1068P exm2088212 5 13883166 [A/C] NM_001369 DNAH5 EXON Missense_L1007F exm445355 5 13883171 [T/C] NM_001369 DNAH5 EXON Missense_S1006G exm445363 5 13885190 [A/T] NM_001369 DNAH5 EXON Missense_H964L exm445372 5 13886133 [T/C] NM_001369 DNAH5 EXON Missense_E895K exm445376 5 13891091 [T/C] NM_001369 DNAH5 EXON Missense_M857I exm445381 5 13891182 [T/C] NM_001369 DNAH5 EXON Missense_R827H exm445384 5 13891219 [A/T] NM_001369 DNAH5 EXON Missense_L815M exm445389 5 13894884 [A/G] NM_001369 DNAH5 EXON Missense_A769V exm445390 5 13894894 [T/A] NM_001369 DNAH5 EXON Missense_I766L exm445391 5 13900321 [T/G] NM_001369 DNAH5 EXON Missense_N751K exm445395 5 13900374 [G/C] NM_001369 DNAH5 EXON Missense_L734V exm2088278 5 13901366 [A/G] NM_001369 DNAH5 EXON Missense_R683W exm445405 5 13901431 [T/C] NM_001369 DNAH5 EXON Missense_R661H exm445410 5 13901531 [A/C] NM_001369 DNAH5 EXON Missense_L628V exm445412 5 13901555 [T/G] NM_001369 DNAH5 EXON Missense_Q620K exm445418 5 13902177 [A/C] NM_001369 DNAH5 EXON Missense_L572W exm445420 5 13902220 [T/C] NM_001369 DNAH5 EXON Missense_T558A exm445421 5 13902244 [T/C] NM_001369 DNAH5 EXON Missense_E550K exm445422 5 13902245 [G/C] NM_001369 DNAH5 EXON Missense_N549K exm445425 5 13911508 [A/G] NM_001369 DNAH5 EXON Missense_T544I exm445432 5 13913887 [T/C] NM_001369 DNAH5 EXON Missense_I501V exm445447 5 13914697 [T/C] NM_001369 DNAH5 EXON Missense_A418T exm445449 5 13914699 [G/C] NM_001369 DNAH5 EXON Missense_T417S exm445455 5 13914751 [T/C] NM_001369 DNAH5 EXON Missense_V400M exm445459 5 13916528 [A/C] NM_001369 DNAH5 EXON Missense_A376S exm445460 5 13916533 [A/G] NM_001369 DNAH5 EXON Missense_I374T exm445461 5 13916540 [T/C] NM_001369 DNAH5 EXON Missense_T372A exm2088305 5 13917287 [A/C] NM_001369 DNAH5 EXON Nonsense_E352X exm445470 5 13919289 [A/G] NM_001369 DNAH5 EXON Missense_L324P exm445471 5 13919298 [A/G] NM_001369 DNAH5 EXON Missense_S321L exm445472 5 13919314 [A/G] NM_001369 DNAH5 EXON Missense_L316F exm445474 5 13919343 [T/C] NM_001369 DNAH5 EXON Missense_S306N exm445475 5 13919366 [G/C] NM_001369 DNAH5 EXON Missense_N298K exm445495 5 13922302 [T/C] NM_001369 DNAH5 EXON Missense_A192T exm445503 5 13923445 [T/C] NM_001369 DNAH5 EXON Missense_V128M exm445505 5 13923460 [A/G] NM_001369 DNAH5 EXON Missense_L123F exm445507 5 13923484 [T/C] NM_001369 DNAH5 EXON Missense_V115M exm2256957 5 13923485 [A/G] NM_001369 DNAH5 EXON Synonymous_F114F exm445508 5 13923485 [A/G] NM_001369 DNAH5 EXON Synonymous_F114F exm445510 5 13923528 [G/C] NM_001369 DNAH5 EXON Missense_G100A exm445518 5 13931323 [A/G] NM_001369 DNAH5 EXON Missense_R30W exm445519 5 13931340 [T/C] NM_001369 DNAH5 EXON Missense_G24E exm445521 5 13944491 [A/C] NM_001369 DNAH5 EXON Synonymous_T19T exm445524 5 13944512 [A/C] NM_001369 DNAH5 EXON Missense_H12Q exm2270014 5 14239606 [T/G] NM_007118 TRIO Silent exm2270188 5 14245046 [T/C] NM_007118 TRIO Silent exm2090507 5 14270975 [T/C] NM_007118 TRIO EXON Missense_P67S exm445562 5 14297221 [A/G] NM_007118 TRIO EXON Missense_N406S exm445598 5 14363982 [A/G] NM_007118 TRIO EXON Missense_V845I exm445600 5 14364019 [A/G] NM_007118 TRIO EXON Missense_N857S exm445644 5 14387677 [A/G] NM_007118 TRIO EXON Missense_R1234Q exm445655 5 14390341 [A/G] NM_007118 TRIO EXON Missense_I1354V exm445658 5 14391099 [T/C] NM_007118 TRIO EXON Synonymous_D1406D exm445680 5 14406077 [A/G] NM_007118 TRIO EXON Missense_A1613T exm445687 5 14419940 [T/C] NM_007118 TRIO EXON Synonymous_N1671N exm2257009 5 14419940 [T/C] NM_007118 TRIO EXON Synonymous_N1671N exm445709 5 14461344 [A/G] NM_007118 TRIO EXON Missense_R1807H exm445723 5 14465657 [T/C] NM_007118 TRIO EXON Missense_S1891P exm445730 5 14474112 [A/G] NM_007118 TRIO EXON Missense_A1997T exm2241946 5 14481727 [T/C] NM_007118 TRIO EXON Synonymous_D2155D exm445764 5 14482836 [A/G] NM_007118 TRIO EXON Missense_K2204R exm445771 5 14485257 [T/C] NM_007118 TRIO EXON Missense_V2246A exm445776 5 14487574 [T/C] NM_007118 TRIO EXON Synonymous_A2279A exm445789 5 14487788 [A/G] NM_007118 TRIO EXON Missense_V2351M exm445790 5 14487852 [T/C] NM_007118 TRIO EXON Missense_P2372L exm445795 5 14488104 [T/C] NM_007118 TRIO EXON Missense_P2456L exm445797 5 14488128 [T/C] NM_007118 TRIO EXON Missense_A2464V exm445828 5 14492907 [A/C] NM_007118 TRIO EXON Missense_P2622T exm445829 5 14492914 [A/G] NM_007118 TRIO EXON Missense_G2624E exm445831 5 14497004 [A/C] NM_007118 TRIO EXON Missense_H2633N exm445842 5 14497963 [A/G] NM_007118 TRIO EXON Missense_N2676S exm445843 5 14497982 [T/C] NM_007118 TRIO EXON Synonymous_D2682D exm445856 5 14498633 [T/C] NM_007118 TRIO EXON Missense_L2739P exm2090730 5 14498645 [A/C] NM_007118 TRIO EXON Missense_T2743K exm445863 5 14498717 [T/C] NM_007118 TRIO EXON Missense_S2767L exm445866 5 14502714 [A/T] NM_007118 TRIO EXON Missense_T2787S exm445868 5 14504537 [A/G] NM_007118 TRIO EXON Missense_K2816R exm445881 5 14507299 [T/C] NM_007118 TRIO EXON Missense_A2894V exm445886 5 14508067 [A/C] NM_007118 TRIO EXON Missense_N2944H exm445887 5 14508068 [A/G] NM_007118 TRIO EXON Missense_N2944S exm445901 5 14508347 [A/T] NM_007118 TRIO EXON Missense_K3037M exm445908 5 14508415 [A/G] NM_007118 TRIO EXON Missense_V3060I exm445912 5 14508484 [T/C] NM_007118 TRIO EXON Missense_R3083C exm445928 5 14601175 [T/G] NM_019018 FAM105A EXON Missense_V56L exm2257015 5 14601189 [T/C] NM_019018 FAM105A EXON Synonymous_C60C exm445932 5 14601197 [A/G] NM_019018 FAM105A EXON Missense_R63Q exm445939 5 14601547 [A/G] NM_019018 FAM105A EXON Missense_R115K exm445940 5 14602319 [A/C] NM_019018 FAM105A EXON Missense_H126N exm445941 5 14602371 [A/C] NM_019018 FAM105A EXON Nonsense_S143X exm445950 5 14608944 [T/C] NM_019018 FAM105A EXON Missense_L239F exm2091061 5 14608984 [G/C] NM_019018 FAM105A EXON Missense_T252S exm445953 5 14609059 [T/C] NM_019018 FAM105A EXON Missense_S277F exm445965 5 14610337 [T/G] NM_019018 FAM105A EXON Missense_C329G exm445972 5 14610397 [T/C] NM_019018 FAM105A EXON Missense_R349C exm445981 5 14681593 [T/G] NM_138348 FAM105B EXON Missense_Q115H exm445996 5 14690221 [T/C] NM_138348 FAM105B EXON Missense_A223V exm446001 5 14693030 [A/G] NM_138348 FAM105B EXON Missense_N311S exm446004 5 14693150 [A/G] NM_138348 FAM105B EXON Missense_S351N exm446009 5 14711332 [T/C] NM_054027 ANKH EXON Missense_V485M exm446019 5 14713681 [T/C] NM_054027,NR_046285 ANKH,LOC100130744 EXON Missense_A413T,Silent exm446035 5 14716935 [T/C] NM_054027 ANKH EXON Missense_V341M exm446054 5 14751188 [A/G] NM_054027 ANKH EXON Missense_P226L exm446061 5 14751305 [T/C] NM_054027 ANKH EXON Missense_R187Q exm2257024 5 14758616 [A/G] NM_054027 ANKH EXON Synonymous_L135L exm2270015 5 14989346 [T/C] exm2266057 5 15117438 [A/G] exm2265915 5 15567629 [A/G] NM_012304 FBXL7 Silent exm2264114 5 15817966 [A/C] NM_012304 FBXL7 Silent exm2264142 5 15853255 [A/C] NM_012304 FBXL7 Silent exm446105 5 15928163 [T/C] NM_012304 FBXL7 EXON Missense_H98Y exm446109 5 15928287 [A/G] NM_012304 FBXL7 EXON Missense_R139Q exm446131 5 15936694 [T/C] NM_012304 FBXL7 EXON Missense_T292I exm446135 5 15936894 [T/C] NM_012304 FBXL7 EXON Missense_H359Y exm-rs11959209 5 16060510 [A/G] exm446157 5 16067798 [T/C] NM_001102562 MARCH11 EXON Missense_E331K exm446179 5 16451890 [A/G] NM_033414 ZNF622 EXON Missense_A437V exm446186 5 16453157 [T/C] NM_033414 ZNF622 EXON Missense_Q424R exm2094330 5 16463256 [T/C] NM_033414 ZNF622 EXON Missense_G337D exm446199 5 16463365 [A/C] NM_033414 ZNF622 EXON Missense_V301F exm446220 5 16465356 [A/G] NM_033414 ZNF622 EXON Missense_P140L exm446239 5 16475199 [G/C] NM_019000,NM_001034850 FAM134B,FAM134B EXON Missense_S241T,Missense_S382T exm446240 5 16475209 [G/C] NM_019000,NM_001034850 FAM134B,FAM134B EXON Missense_Q238E,Missense_Q379E exm2094356 5 16478962 [T/A] NM_019000,NM_001034850 FAM134B,FAM134B EXON Missense_S128T,Missense_S269T exm2270016 5 16537473 [T/G] NM_001034850 FAM134B Silent exm446268 5 16572152 [T/C] NM_001034850 FAM134B EXON Missense_R127H exm446269 5 16572153 [A/G] NM_001034850 FAM134B EXON Missense_R127C exm446272 5 16572211 [A/C] NM_001034850 FAM134B EXON Missense_W107C exm446289 5 16668390 [C/G] NM_012334 MYO10 EXON Missense_S2024T exm446290 5 16668403 [C/G] NM_012334 MYO10 EXON Missense_L2020V exm446298 5 16668531 [A/G] NM_012334 MYO10 EXON Missense_A1977V exm446318 5 16670954 [T/A] NM_012334 MYO10 EXON Missense_Y1855F exm446320 5 16670988 [G/C] NM_012334 MYO10 EXON Missense_L1844V exm446323 5 16671050 [A/G] NM_012334 MYO10 EXON Missense_P1823L exm446334 5 16671640 [A/G] NM_012334 MYO10 EXON Missense_T1774I exm446348 5 16673975 [G/C] NM_012334 MYO10 EXON Missense_S1663T exm446351 5 16675032 [C/G] NM_012334 MYO10 EXON Missense_L1632V exm446361 5 16675191 [T/G] NM_012334 MYO10 EXON Missense_L1579M exm446368 5 16676247 [A/G] NM_012334 MYO10 EXON Missense_S1520L exm446376 5 16680172 [A/G] NM_012334 MYO10 EXON Missense_R1476W exm446383 5 16681986 [T/C] NM_012334 MYO10 EXON Missense_V1395M exm446391 5 16682075 [T/C] NM_012334 MYO10 EXON Missense_N1365S exm446393 5 16682114 [A/G] NM_012334 MYO10 EXON Missense_S1352L exm446396 5 16685847 [T/C] NM_012334 MYO10 EXON Synonymous_V1330V exm446405 5 16694570 [T/C] NM_012334 MYO10 EXON Missense_R1237H exm446417 5 16699588 [A/G] NM_012334 MYO10 EXON Missense_P1176L exm446427 5 16701140 [A/G] NM_012334 MYO10 EXON Missense_R1122C exm446429 5 16701164 [A/C] NM_012334 MYO10 EXON Missense_G1114C exm446444 5 16701392 [T/C] NM_012334 MYO10 EXON Missense_D1038N exm446449 5 16701497 [T/C] NM_012334 MYO10 EXON Missense_A1003T exm446456 5 16701619 [A/G] NM_012334 MYO10 EXON Missense_S962L exm446468 5 16701796 [A/G] NM_012334 MYO10 EXON Missense_M903T exm446469 5 16701800 [A/G] NM_012334 MYO10 EXON Missense_R902C exm446471 5 16701875 [C/G] NM_012334 MYO10 EXON Missense_E877Q exm446488 5 16711087 [T/C] NM_012334 MYO10 EXON Missense_R700Q exm446492 5 16711258 [A/G] NM_012334 MYO10 EXON Nonsense_R676X exm446498 5 16711332 [T/G] NM_012334 MYO10 EXON Missense_A651E exm446501 5 16754977 [T/C] NM_012334 MYO10 EXON Missense_N630S exm2094447 5 16762730 [A/G] NM_012334 MYO10 EXON Missense_A504V exm446530 5 16766256 [T/G] NM_012334 MYO10 EXON Missense_D371A exm446531 5 16766269 [T/C] NM_012334 MYO10 EXON Missense_T367A exm446534 5 16769267 [G/C] NM_012334 MYO10 EXON Missense_V326L exm446535 5 16769273 [A/G] NM_012334 MYO10 EXON Missense_R324W exm446536 5 16769286 [C/G] NM_012334 MYO10 EXON Missense_S319R exm446539 5 16779659 [T/C] NM_012334 MYO10 EXON Missense_V309I exm446541 5 16779698 [C/G] NM_012334 MYO10 EXON Missense_E296Q exm446543 5 16780640 [T/G] NM_012334 MYO10 EXON Missense_E273D exm446557 5 16794779 [T/C] NM_012334 MYO10 EXON Missense_H148R exm446558 5 16794780 [A/G] NM_012334 MYO10 EXON Missense_H148Y exm446566 5 16794851 [T/C] NM_012334 MYO10 EXON Missense_R124H exm446576 5 16818218 [A/G] NM_012334 MYO10 EXON Missense_T60M exm446579 5 16877744 [T/C] NM_012334 MYO10 EXON Missense_V32I exm2266058 5 16969392 [A/G] exm-rs682748 5 17148911 [A/G] NR_027253 LOC285696 Silent exm446620 5 17275936 [G/C] NM_001271606,NM_006317 BASP1,BASP1 EXON Missense_A204G,Missense_A204G exm446623 5 17275966 [T/C] NM_001271606,NM_006317 BASP1,BASP1 EXON Missense_A214V,Missense_A214V exm446624 5 17275996 [A/C] NM_001271606,NM_006317 BASP1,BASP1 EXON Missense_T224N,Missense_T224N exm2265917 5 17380270 [A/G] NR_033975 LOC401177 EXON Silent exm2261885 5 17437494 [A/G] exm2265918 5 17779133 [A/G] exm2270017 5 18173795 [T/C] exm-rs4469198 5 18919848 [A/G] exm2266061 5 19127527 [A/G] exm-rs349475 5 19440168 [T/C] exm446631 5 19473366 [T/C] NM_004934,NM_001167667 CDH18,CDH18 EXON Missense_Y781C,Silent exm446633 5 19473438 [A/G] NM_004934,NM_001167667 CDH18,CDH18 EXON Missense_T757M,Silent exm446637 5 19473523 [T/C] NM_004934,NM_001167667 CDH18,CDH18 EXON Missense_V729I,Silent exm446652 5 19483411 [T/C] NM_004934,NM_001167667 CDH18,CDH18 EXON Synonymous_L627L,Silent exm2098202 5 19483536 [T/G] NM_004934,NM_001167667 CDH18,CDH18 EXON Missense_I586L,Synonymous_P549P exm446666 5 19503178 [T/G] NM_004934,NM_001167667 CDH18,CDH18 EXON Missense_A518D,Missense_A518D exm446667 5 19503217 [A/G] NM_004934,NM_001167667 CDH18,CDH18 EXON Missense_V505A,Missense_V505A exm2270019 5 19513668 [T/G] NM_004934,NM_001167667 CDH18,CDH18 Silent,Silent exm446673 5 19520861 [T/G] NM_004934,NM_001167667 CDH18,CDH18 EXON Missense_T473P,Missense_T473P exm446677 5 19544029 [T/C] NM_004934,NM_001167667 CDH18,CDH18 EXON Missense_D447N,Missense_D447N exm446684 5 19544097 [T/C] NM_004934,NM_001167667 CDH18,CDH18 EXON Missense_N424S,Missense_N424S exm446687 5 19544104 [T/G] NM_004934,NM_001167667 CDH18,CDH18 EXON Missense_N422H,Missense_N422H exm446697 5 19571871 [T/C] NM_004934,NM_001167667 CDH18,CDH18 EXON Missense_R357H,Missense_R357H exm446699 5 19571904 [T/G] NM_004934,NM_001167667 CDH18,CDH18 EXON Missense_N346T,Missense_N346T exm446700 5 19571925 [T/C] NM_004934,NM_001167667 CDH18,CDH18 EXON Missense_K339R,Missense_K339R exm2261898 5 19771834 [T/C] NM_004934,NM_001167667 CDH18,CDH18 Silent,Silent exm2265919 5 19814107 [A/G] NM_004934,NM_001167667 CDH18,CDH18 Silent,Silent exm446727 5 19838983 [A/G] NM_004934,NM_001167667 CDH18,CDH18 EXON Missense_T38I,Missense_T38I exm2270020 5 20499120 [T/G] exm2270021 5 20606497 [T/C] exm2270190 5 20779048 [T/C] exm2264115 5 21437412 [A/C] exm446749 5 21751961 [A/G] NM_004061 CDH12 EXON Missense_L757P exm446777 5 21760715 [A/G] NM_004061 CDH12 EXON Missense_S529P exm446779 5 21765113 [T/C] NM_004061 CDH12 EXON Missense_V497M exm446782 5 21765178 [A/G] NM_004061 CDH12 EXON Missense_I475T exm-rs4701252 5 21779154 [T/C] NM_004061 CDH12 Silent exm446789 5 21802280 [A/C] NM_004061 CDH12 EXON Missense_V418F exm446792 5 21802346 [T/C] NM_004061 CDH12 EXON Missense_D396N exm2098278 5 21802358 [C/G] NM_004061 CDH12 EXON Missense_E392Q exm446796 5 21802423 [A/G] NM_004061 CDH12 EXON Missense_T370M exm446798 5 21802485 [A/C] NM_004061 CDH12 EXON Missense_E349D exm446804 5 21817206 [T/C] NM_004061 CDH12 EXON Missense_I284V exm446816 5 21842417 [A/G] NM_004061 CDH12 EXON Missense_P223S exm446821 5 21842436 [A/G] NM_004061 CDH12 EXON Synonymous_G216G exm2270191 5 21879902 [T/C] NM_004061 CDH12 Silent exm446835 5 22078584 [T/C] NM_004061 CDH12 EXON Missense_V68M exm446841 5 22078650 [A/G] NM_004061 CDH12 EXON Missense_R46W exm2098297 5 22078686 [G/C] NM_004061 CDH12 EXON Missense_E34Q exm446845 5 22078724 [A/G] NM_004061 CDH12 EXON Missense_T21I exm2265920 5 22109314 [A/G] NM_004061 CDH12 Silent exm-rs10941965 5 22591472 [A/G] NM_004061 CDH12 Silent exm2265921 5 22683956 [A/G] NM_004061 CDH12 Silent exm2265922 5 22985333 [A/G] exm2266062 5 23020866 [A/G] exm-rs10043097 5 23492320 [T/C] exm446851 5 23509197 [A/G] NM_020227 PRDM9 EXON Missense_E19K exm2098331 5 23509703 [G/C] NM_020227 PRDM9 Silent exm446862 5 23510107 [A/C] NM_020227 PRDM9 EXON Missense_S91Y exm446865 5 23510136 [A/G] NM_020227 PRDM9 EXON Missense_V101I exm446877 5 23521211 [T/G] NM_020227 PRDM9 EXON Missense_G144V exm446905 5 23523421 [T/C] NM_020227 PRDM9 EXON Missense_Y302H exm446920 5 23524576 [A/G] NM_020227 PRDM9 EXON Missense_G362S exm446933 5 23526678 [T/G] NM_020227 PRDM9 EXON Missense_M494R exm446938 5 23526849 [T/C] NM_020227 PRDM9 EXON Missense_L551P exm446942 5 23526921 [T/C] NM_020227 PRDM9 EXON Missense_T575I exm2242374 5 23526933 [T/C] NM_020227 PRDM9 EXON Missense_P579L exm2270192 5 23533746 [T/C] exm2265923 5 23621475 [A/G] exm2265924 5 24322935 [A/G] exm447033 5 24487842 [T/C] NM_006727 CDH10 EXON Missense_R766Q exm447075 5 24509749 [A/C] NM_006727 CDH10 EXON Missense_H394Q exm447084 5 24511490 [T/C] NM_006727 CDH10 EXON Missense_M316I exm2265925 5 24515452 [A/G] NM_006727 CDH10 Silent exm447110 5 24537539 [A/G] NM_006727 CDH10 EXON Missense_T159M exm447119 5 24593475 [A/G] NM_006727 CDH10 EXON Missense_P42L exm2266063 5 24779565 [A/G] exm2270023 5 25228227 [T/C] exm2257179 5 25696285 [A/C] exm-rs7727656 5 25760679 [T/G] exm-rs10038113 5 25902342 [T/C] exm-rs4307059 5 25967703 [T/C] exm2270024 5 26165846 [T/C] exm2270194 5 26383363 [T/C] exm-rs4479806 5 26723783 [A/C] exm2270025 5 26809915 [T/C] exm447150 5 26885795 [T/C] NM_016279 CDH9 EXON Missense_A604T exm447151 5 26885797 [T/C] NM_016279 CDH9 EXON Missense_E603G exm447154 5 26885950 [T/C] NM_016279 CDH9 EXON Missense_R552Q exm447167 5 26890585 [A/G] NM_016279 CDH9 EXON Missense_R448W exm447178 5 26902726 [T/G] NM_016279 CDH9 EXON Missense_K371T exm2098474 5 26902832 [T/C] NM_016279 CDH9 EXON Missense_D336N exm2098481 5 26903930 [A/G] NM_016279 CDH9 EXON Missense_T272M exm2257182 5 26906925 [A/C] NM_016279 CDH9 EXON Synonymous_T182T exm447220 5 26988328 [A/G] NM_016279 CDH9 EXON Missense_A38V exm447222 5 26988400 [T/C] NM_016279 CDH9 EXON Missense_Y14C exm447223 5 26988424 [T/C] NM_016279 CDH9 EXON Missense_Y6C exm-rs4382127 5 27252466 [A/G] exm2266064 5 27418887 [A/G] exm2265926 5 27987104 [A/G] exm2270195 5 28310093 [T/C] exm-rs7729724 5 28376355 [A/G] exm2270027 5 28635825 [T/C] exm-rs2548003 5 28747323 [G/C] exm2270028 5 29339392 [T/C] exm2270029 5 29806888 [T/C] exm-rs1366363 5 29949620 [A/G] exm2270030 5 30137291 [T/G] exm2257191 5 30881510 [T/G] exm2261912 5 30946644 [A/G] exm447234 5 31267779 [A/G] NM_004932 CDH6 EXON Missense_T67A exm447238 5 31294069 [T/C] NM_004932 CDH6 EXON Synonymous_L77L exm447244 5 31294207 [A/G] NM_004932 CDH6 EXON Missense_V123I exm2098559 5 31297396 [A/G] NM_004932 CDH6 EXON Missense_G175D exm447258 5 31299727 [A/G] NM_004932 CDH6 EXON Missense_R267Q exm447290 5 31317826 [A/C] NM_004932 CDH6 EXON Missense_H559Q exm447343 5 31435971 [A/G] NM_013235,NM_001100412 DROSHA,DROSHA EXON Synonymous_S981S,Synonymous_S944S exm2257195 5 31468075 [A/G] NM_013235,NM_001100412 DROSHA,DROSHA EXON Synonymous_P779P,Synonymous_P742P exm447371 5 31495479 [A/C] NM_013235,NM_001100412 DROSHA,DROSHA EXON Missense_A557S,Missense_A520S exm447380 5 31515250 [T/C] NM_013235,NM_001100412 DROSHA,DROSHA EXON Missense_G379S,Missense_G342S exm447381 5 31515274 [A/G] NM_013235,NM_001100412 DROSHA,DROSHA EXON Missense_R371C,Missense_R334C exm447383 5 31515657 [A/G] NM_013235,NM_001100412 DROSHA,DROSHA EXON Missense_S321L,Silent exm447387 5 31526205 [A/G] NM_013235,NM_001100412 DROSHA,DROSHA EXON Missense_R279C,Missense_R279C exm447397 5 31526409 [T/G] NM_013235,NM_001100412 DROSHA,DROSHA EXON Missense_P211T,Missense_P211T exm447398 5 31526513 [T/C] NM_013235,NM_001100412 DROSHA,DROSHA EXON Missense_N176S,Missense_N176S exm447400 5 31526531 [A/G] NM_013235,NM_001100412 DROSHA,DROSHA EXON Missense_P170L,Missense_P170L exm447414 5 31526792 [A/G] NM_013235,NM_001100412 DROSHA,DROSHA EXON Missense_P83L,Missense_P83L exm447418 5 31526841 [T/G] NM_013235,NM_001100412 DROSHA,DROSHA EXON Missense_P67T,Missense_P67T exm447420 5 31526874 [A/G] NM_013235,NM_001100412 DROSHA,DROSHA EXON Missense_P56S,Missense_P56S exm447425 5 31526945 [A/G] NM_013235,NM_001100412 DROSHA,DROSHA EXON Missense_P32L,Missense_P32L exm447429 5 31526999 [A/G] NM_013235,NM_001100412 DROSHA,DROSHA EXON Missense_P14L,Missense_P14L exm2098672 5 31532513 [T/C] NM_018356 C5orf22 EXON Missense_A5V exm447450 5 31538369 [T/C] NM_018356 C5orf22 EXON Missense_V127A exm447451 5 31538419 [A/G] NM_018356 C5orf22 EXON Missense_D144N exm447456 5 31538537 [T/C] NM_018356 C5orf22 EXON Missense_A183V exm447463 5 31538692 [A/C] NM_018356 C5orf22 EXON Missense_T235P exm2242390 5 31538794 [C/G] NM_018356 C5orf22 EXON Missense_Q269E exm447470 5 31541108 [A/G] NM_018356 C5orf22 EXON Missense_N287S exm447488 5 31552951 [A/G] NM_018356 C5orf22 EXON Missense_R424H exm2270032 5 31603202 [T/G] exm447492 5 31799371 [A/G] NM_178140 PDZD2 EXON Missense_D6N exm447494 5 31799378 [T/C] NM_178140 PDZD2 EXON Missense_A8V exm447500 5 31799522 [T/C] NM_178140 PDZD2 EXON Missense_T56M exm447513 5 31983263 [A/T] NM_178140 PDZD2 EXON Missense_Y160F exm447516 5 31983344 [A/G] NM_178140 PDZD2 EXON Missense_Y187C exm447518 5 31983407 [A/G] NM_178140 PDZD2 EXON Missense_R208Q exm447521 5 31983428 [A/G] NM_178140 PDZD2 EXON Missense_R215Q exm447523 5 31983460 [A/C] NM_178140 PDZD2 EXON Missense_P226T exm447531 5 31983659 [A/G] NM_178140 PDZD2 EXON Missense_H292R exm2242392 5 31983762 [A/G] NM_178140 PDZD2 EXON Synonymous_R326R exm447541 5 31995695 [A/G] NM_178140 PDZD2 EXON Missense_R331Q exm2270196 5 32007713 [T/C] NM_178140 PDZD2 Silent exm447551 5 32010445 [A/G] NM_178140 PDZD2 EXON Missense_A422T exm447553 5 32010497 [T/C] NM_178140 PDZD2 EXON Missense_S439L exm447557 5 32037337 [A/G] NM_178140 PDZD2 EXON Missense_M470V exm447563 5 32048696 [A/G] NM_178140 PDZD2 EXON Missense_R524Q exm447577 5 32053911 [A/G] NM_178140 PDZD2 EXON Missense_I608V exm447587 5 32058071 [A/G] NM_178140 PDZD2 EXON Missense_S688G exm447591 5 32058096 [A/G] NM_178140 PDZD2 EXON Missense_N696S exm447593 5 32058114 [T/C] NM_178140 PDZD2 EXON Missense_S702L exm447598 5 32058162 [A/C] NM_178140 PDZD2 EXON Missense_T718N exm447601 5 32058203 [A/C] NM_178140 PDZD2 EXON Missense_N732H exm447614 5 32069709 [A/G] NM_178140 PDZD2 EXON Missense_R829H exm447617 5 32069741 [T/C] NM_178140 PDZD2 EXON Missense_S840P exm447622 5 32072315 [T/G] NM_178140 PDZD2 EXON Missense_V873F exm447624 5 32072348 [A/G] NM_178140 PDZD2 EXON Missense_G884S exm2098728 5 32072422 [T/C] NM_178140 PDZD2 EXON Synonymous_S908S exm447637 5 32074036 [A/C] NM_178140 PDZD2 EXON Missense_Q942K exm2242397 5 32074108 [A/G] NM_178140 PDZD2 EXON Missense_D966N exm447642 5 32074181 [T/C] NM_178140 PDZD2 EXON Missense_P990L exm447643 5 32074252 [A/G] NM_178140 PDZD2 EXON Missense_V1014I exm447645 5 32074298 [T/C] NM_178140 PDZD2 EXON Missense_A1029V exm447656 5 32074462 [A/G] NM_178140 PDZD2 EXON Missense_A1084T exm447668 5 32074529 [T/C] NM_178140 PDZD2 EXON Missense_S1106F exm447669 5 32074573 [A/G] NM_178140 PDZD2 EXON Missense_V1121M exm447672 5 32074672 [G/C] NM_178140 PDZD2 EXON Missense_D1154H exm447675 5 32074745 [A/G] NM_178140 PDZD2 EXON Missense_E1178G exm447678 5 32077653 [A/G] NM_178140 PDZD2 EXON Missense_S1208N exm447679 5 32077667 [A/G] NM_178140 PDZD2 EXON Missense_N1213D exm447689 5 32087326 [A/C] NM_178140 PDZD2 EXON Missense_Q1258K exm447692 5 32087374 [A/G] NM_178140 PDZD2 EXON Missense_T1274A exm447695 5 32087410 [A/C] NM_178140 PDZD2 EXON Missense_H1286N exm447698 5 32087480 [T/C] NM_178140 PDZD2 EXON Missense_S1309L exm447703 5 32087583 [A/C] NM_178140 PDZD2 EXON Missense_D1343E exm447706 5 32087662 [T/C] NM_178140 PDZD2 EXON Missense_P1370S exm447714 5 32087771 [T/C] NM_178140 PDZD2 EXON Missense_A1406V exm447721 5 32087828 [T/C] NM_178140 PDZD2 EXON Missense_T1425M exm447723 5 32087891 [T/C] NM_178140 PDZD2 EXON Missense_T1446M exm447729 5 32088073 [A/G] NM_178140 PDZD2 EXON Missense_I1507V exm447730 5 32088082 [A/G] NM_178140 PDZD2 EXON Missense_D1510N exm447740 5 32088280 [A/G] NM_178140 PDZD2 EXON Missense_G1576S exm447748 5 32088500 [T/C] NM_178140 PDZD2 EXON Missense_A1649V exm447759 5 32088760 [T/C] NM_178140 PDZD2 EXON Missense_H1736Y exm447763 5 32088875 [A/T] NM_178140 PDZD2 EXON Missense_N1774I exm447766 5 32088942 [C/G] NM_178140 PDZD2 EXON Missense_R1796S exm447768 5 32088968 [T/G] NM_178140 PDZD2 EXON Missense_I1805R exm447771 5 32089103 [A/G] NM_178140 PDZD2 EXON Missense_S1850N exm2098757 5 32089157 [T/C] NM_178140 PDZD2 EXON Missense_P1868L exm2098763 5 32089369 [A/G] NM_178140 PDZD2 EXON Missense_D1939N exm447794 5 32089393 [A/G] NM_178140 PDZD2 EXON Missense_T1947A exm447796 5 32089484 [T/C] NM_178140 PDZD2 EXON Missense_T1977M exm447799 5 32089643 [A/G] NM_178140 PDZD2 EXON Missense_R2030H exm447810 5 32089704 [A/C] NM_178140 PDZD2 EXON Missense_N2050K exm447818 5 32089802 [A/G] NM_178140 PDZD2 EXON Missense_R2083H exm447821 5 32089831 [A/G] NM_178140 PDZD2 EXON Missense_V2093M exm447822 5 32089870 [A/G] NM_178140 PDZD2 EXON Missense_G2106S exm447826 5 32089991 [T/C] NM_178140 PDZD2 EXON Missense_S2146L exm447846 5 32090294 [A/G] NM_178140 PDZD2 EXON Missense_R2247Q exm2098774 5 32090312 [T/C] NM_178140 PDZD2 EXON Missense_V2253A exm447848 5 32090378 [A/G] NM_178140 PDZD2 EXON Missense_Q2275R exm447850 5 32090399 [T/C] NM_178140 PDZD2 EXON Missense_P2282L exm447865 5 32090620 [A/G] NM_178140 PDZD2 EXON Missense_G2356R exm447866 5 32090639 [T/C] NM_178140 PDZD2 EXON Missense_S2362L exm447867 5 32090660 [T/C] NM_178140 PDZD2 EXON Missense_I2369T exm447872 5 32090716 [A/G] NM_178140 PDZD2 EXON Missense_A2388T exm447875 5 32090776 [A/G] NM_178140 PDZD2 EXON Missense_G2408S exm447879 5 32090918 [T/C] NM_178140 PDZD2 EXON Missense_T2455M exm447888 5 32091049 [A/G] NM_178140 PDZD2 EXON Missense_E2499K exm447913 5 32097475 [A/G] NM_178140 PDZD2 EXON Missense_K2646E exm447914 5 32097485 [T/C] NM_178140 PDZD2 EXON Missense_T2649M exm447916 5 32098522 [A/G] NM_178140 PDZD2 EXON Missense_R2667Q exm447918 5 32098563 [A/G] NM_178140 PDZD2 EXON Missense_G2681S exm447921 5 32098590 [T/G] NM_178140 PDZD2 EXON Missense_V2690F exm447928 5 32101231 [A/G] NM_178140 PDZD2 EXON Missense_D2747N exm447933 5 32101318 [T/C] NM_178140 PDZD2 EXON Missense_P2776S exm447936 5 32108076 [T/C] NM_178140 PDZD2 EXON Synonymous_G2785G exm447937 5 32108080 [A/G] NM_178140 PDZD2 EXON Missense_A2787T exm447940 5 32108215 [A/G] NM_178140 PDZD2 EXON Missense_I2832V exm447946 5 32126358 [T/C] NM_022130 GOLPH3 EXON Missense_N286S exm447952 5 32126421 [A/G] NM_022130 GOLPH3 EXON Missense_T265I exm2098811 5 32126511 [T/C] NM_022130 GOLPH3 EXON Missense_R235H exm2242406 5 32126575 [T/C] NM_022130 GOLPH3 EXON Missense_I214V exm2242407 5 32135762 [A/C] NM_022130 GOLPH3 EXON Missense_D130Y exm447981 5 32229904 [T/C] NM_001040446 MTMR12 EXON Missense_V742M exm2098822 5 32230026 [T/C] NM_001040446 MTMR12 EXON Missense_R701H exm447989 5 32230027 [A/G] NM_001040446 MTMR12 EXON Missense_R701C exm447996 5 32230302 [A/G] NM_001040446 MTMR12 EXON Missense_F609S exm448005 5 32233886 [T/C] NM_001040446 MTMR12 EXON Missense_R556H exm448020 5 32235205 [T/C] NM_001040446 MTMR12 EXON Missense_V459I exm448023 5 32239166 [T/C] NM_001040446 MTMR12 EXON Missense_M429V exm448024 5 32239220 [A/G] NM_001040446 MTMR12 EXON Missense_P411S exm448030 5 32242175 [T/C] NM_001040446 MTMR12 EXON Missense_V387I exm448031 5 32242200 [A/T] NM_001040446 MTMR12 EXON Missense_E378D exm448040 5 32255813 [T/C] NM_001040446 MTMR12 EXON Missense_G259S exm448041 5 32255822 [A/G] NM_001040446 MTMR12 EXON Missense_R256C exm2098845 5 32263226 [T/A] NM_001040446 MTMR12 EXON Missense_C236S exm448043 5 32263241 [T/C] NM_001040446 MTMR12 EXON Missense_E231K exm448045 5 32263316 [T/C] NM_001040446 MTMR12 EXON Missense_D206N exm2270033 5 32286948 [T/C] NM_001040446 MTMR12 Silent exm448069 5 32356015 [T/C] NM_016107 ZFR EXON Missense_I1026V exm448101 5 32390517 [T/C] NM_016107 ZFR EXON Missense_R669K exm448114 5 32400266 [A/G] NM_016107 ZFR EXON Missense_I520T exm448119 5 32403318 [A/G] NM_016107 ZFR EXON Missense_T470M exm448120 5 32403331 [T/C] NM_016107 ZFR EXON Missense_M466V exm448121 5 32403340 [T/C] NM_016107 ZFR EXON Missense_T463A exm448123 5 32403346 [T/C] NM_016107 ZFR EXON Missense_V461I exm2273404 5 32601205 [A/G] NM_006713 SUB1 EXON Silent exm-rs7731703 5 32694942 [T/C] exm448196 5 32724806 [T/G] NM_001204376,NM_000908,NM_001204375 NPR3,NPR3,NPR3 EXON Missense_V42L,Missense_V258L,Missense_V258L exm2098912 5 32724875 [A/C] NM_001204376,NM_000908,NM_001204375 NPR3,NPR3,NPR3 EXON Missense_S65R,Missense_S281R,Missense_S281R exm448222 5 32783096 [A/G] NM_001204376,NM_000908,NM_001204375 NPR3,NPR3,NPR3 EXON Missense_R247Q,Missense_R463Q,Missense_R463Q exm448225 5 32784907 [A/G] NM_001204376,NM_000908,NM_001204375 NPR3,NPR3,NPR3 EXON Missense_G261S,Missense_G477S,Missense_G478S exm2257199 5 32784924 [A/G] NM_001204376,NM_000908,NM_001204375 NPR3,NPR3,NPR3 EXON Synonymous_A266A,Synonymous_A482A,Synonymous_A483A exm448230 5 32786389 [A/G] NM_001204376,NM_000908,NM_001204375 NPR3,NPR3,NPR3 EXON Missense_N305D,Missense_N521D,Missense_N522D exm-rs1173727 5 32830521 [T/C] exm-rs10472828 5 32888818 [T/C] exm2265927 5 32941161 [A/G] exm2265928 5 33176567 [A/G] exm-rs11745439 5 33230034 [A/G] exm448264 5 33441193 [A/G] NM_001258437,NM_152295,NM_001258438,NR_047676,NR_047678,NR_047677 TARS,TARS,TARS,TARS,TARS,TARS EXON Missense_M1V,Missense_M1V,Missense_M1V,Silent,Silent,Silent exm448270 5 33445434 [A/G] NM_001258437,NM_152295,NM_001258438,NR_047676,NR_047678,NR_047677 TARS,TARS,TARS,TARS,TARS,TARS EXON Missense_G21D,Missense_G21D,Missense_G21D,Silent,Silent,Silent exm448280 5 33448705 [T/C] NM_001258437,NM_152295,NM_001258438,NR_047676,NR_047678,NR_047677 TARS,TARS,TARS,TARS,TARS,TARS EXON Missense_A66V,Missense_A66V,Missense_A66V,Silent,Silent,Silent exm448282 5 33448739 [A/C] NM_001258437,NM_152295,NM_001258438,NR_047676,NR_047678,NR_047677 TARS,TARS,TARS,TARS,TARS,TARS EXON Missense_E77D,Missense_E77D,Missense_E77D,Silent,Silent,Silent exm448285 5 33448792 [A/C] NM_001258437,NM_152295,NM_001258438,NR_047676,NR_047678,NR_047677 TARS,TARS,TARS,TARS,TARS,TARS EXON Missense_A95E,Missense_A95E,Missense_A95E,Silent,Silent,Silent exm448287 5 33448833 [A/G] NM_001258437,NM_152295,NM_001258438,NR_047676,NR_047678,NR_047677 TARS,TARS,TARS,TARS,TARS,TARS EXON Missense_I109V,Missense_I109V,Missense_I109V,Silent,Silent,Silent exm448289 5 33453407 [A/G] NM_001258437,NM_152295,NM_001258438,NR_047676,NR_047678,NR_047677 TARS,TARS,TARS,TARS,TARS,TARS EXON Missense_D115N,Missense_D115N,Missense_D148N,Silent,Silent,Silent exm448290 5 33453416 [A/G] NM_001258437,NM_152295,NM_001258438,NR_047676,NR_047678,NR_047677 TARS,TARS,TARS,TARS,TARS,TARS EXON Missense_V118I,Missense_V118I,Missense_V151I,Silent,Silent,Silent exm448297 5 33455164 [A/G] NM_001258437,NM_152295,NM_001258438,NR_047676,NR_047678,NR_047677 TARS,TARS,TARS,TARS,TARS,TARS EXON Missense_E190K,Missense_E190K,Missense_E223K,Silent,Silent,Silent exm2098943 5 33455801 [A/G] NM_001258437,NM_152295,NM_001258438,NR_047676,NR_047678,NR_047677 TARS,TARS,TARS,TARS,TARS,TARS EXON Missense_M229V,Missense_M229V,Missense_M262V,Silent,Silent,Silent exm2098948 5 33456328 [A/T] NM_001258437,NM_152295,NM_001258438,NR_047676,NR_047678,NR_047677 TARS,TARS,TARS,TARS,TARS,TARS EXON Missense_H278L,Missense_H278L,Missense_H311L,Silent,Silent,Silent exm448318 5 33457485 [T/C] NM_001258437,NM_152295,NM_001258438,NR_047676,NR_047678,NR_047677 TARS,TARS,TARS,TARS,TARS,TARS EXON Nonsense_R321X,Nonsense_R321X,Nonsense_R354X,Silent,Silent,Silent exm448319 5 33457501 [T/C] NM_001258437,NM_152295,NM_001258438,NR_047676,NR_047678,NR_047677 TARS,TARS,TARS,TARS,TARS,TARS EXON Missense_I326T,Missense_I326T,Missense_I359T,Silent,Silent,Silent exm448326 5 33458744 [A/T] NM_001258437,NM_152295,NM_001258438,NR_047676,NR_047678,NR_047677 TARS,TARS,TARS,TARS,TARS,TARS EXON Missense_Y353F,Missense_Y353F,Missense_Y386F,Silent,Silent,Silent exm448332 5 33461027 [G/C] NM_001258437,NM_152295,NM_001258438,NR_047676,NR_047678,NR_047677 TARS,TARS,TARS,TARS,TARS,TARS EXON Missense_P424R,Missense_P424R,Missense_P457R,Silent,Silent,Silent exm448344 5 33461300 [A/G] NM_001258437,NM_152295,NM_001258438,NR_047676,NR_047678,NR_047677 TARS,TARS,TARS,TARS,TARS,TARS EXON Missense_R484H,Missense_R484H,Missense_R517H,Silent,Silent,Silent exm448352 5 33462017 [A/G] NM_001258437,NM_152295,NM_001258438,NR_047676,NR_047678,NR_047677 TARS,TARS,TARS,TARS,TARS,TARS EXON Missense_I546V,Missense_I546V,Missense_I579V,Silent,Silent,Silent exm448362 5 33462212 [A/G] NM_001258437,NM_152295,NM_001258438,NR_047676,NR_047678,NR_047677 TARS,TARS,TARS,TARS,TARS,TARS EXON Missense_G580D,Missense_G580D,Missense_G613D,Silent,Silent,Silent exm448366 5 33463929 [A/G] NM_001258437,NM_152295,NM_001258438,NR_047676,NR_047678,NR_047677 TARS,TARS,TARS,TARS,TARS,TARS EXON Missense_K636R,Missense_K636R,Missense_K669R,Silent,Silent,Silent exm448371 5 33466994 [A/G] NM_001258437,NM_152295,NM_001258438,NR_047676,NR_047678,NR_047677 TARS,TARS,TARS,TARS,TARS,TARS EXON Missense_D643N,Missense_D643N,Missense_D676N,Silent,Silent,Silent exm448377 5 33467737 [A/G] NM_001258437,NM_152295,NM_001258438,NR_047676,NR_047678,NR_047677 TARS,TARS,TARS,TARS,TARS,TARS EXON Missense_R699H,Missense_R699H,Missense_R732H,Silent,Silent,Silent exm448378 5 33467745 [T/C] NM_001258437,NM_152295,NM_001258438,NR_047676,NR_047678,NR_047677 TARS,TARS,TARS,TARS,TARS,TARS EXON Missense_S702P,Missense_S702P,Missense_S735P,Silent,Silent,Silent exm448379 5 33467756 [C/G] NM_001258437,NM_152295,NM_001258438,NR_047676,NR_047678,NR_047677 TARS,TARS,TARS,TARS,TARS,TARS EXON Missense_I705M,Missense_I705M,Missense_I738M,Silent,Silent,Silent exm448386 5 33527307 [A/G] NM_030955 ADAMTS12 EXON Missense_S1591P exm2098974 5 33527438 [C/G] NM_030955 ADAMTS12 EXON Missense_S1547T exm448393 5 33534994 [T/C] NM_030955 ADAMTS12 EXON Missense_K1517R exm448399 5 33546207 [T/C] NM_030955 ADAMTS12 EXON Missense_N1468S exm2266069 5 33547787 [A/G] NM_030955 ADAMTS12 Silent exm448408 5 33549350 [C/G] NM_030955 ADAMTS12 EXON Missense_E1422Q exm448409 5 33549374 [T/G] NM_030955 ADAMTS12 EXON Missense_P1414T exm448415 5 33549422 [A/G] NM_030955 ADAMTS12 EXON Missense_R1398W exm448417 5 33549430 [T/C] NM_030955 ADAMTS12 EXON Missense_R1395Q exm448418 5 33549435 [G/C] NM_030955 ADAMTS12 EXON Missense_D1393E exm448435 5 33576410 [T/C] NM_030955 ADAMTS12 EXON Missense_T1241A exm448445 5 33576602 [A/G] NM_030955 ADAMTS12 EXON Missense_W1177R exm2242412 5 33576629 [C/G] NM_030955 ADAMTS12 EXON Missense_D1168H exm448456 5 33576787 [A/G] NM_030955 ADAMTS12 EXON Missense_S1115L exm448460 5 33576896 [A/G] NM_030955 ADAMTS12 EXON Missense_R1079C exm448465 5 33576943 [T/C] NM_030955 ADAMTS12 EXON Missense_G1063D exm448468 5 33577018 [A/G] NM_030955 ADAMTS12 EXON Missense_P1038L exm448472 5 33577096 [T/C] NM_030955 ADAMTS12 EXON Missense_N1012S exm448473 5 33577132 [T/C] NM_030955 ADAMTS12 EXON Missense_R1000Q exm448486 5 33588914 [T/C] NM_030955 ADAMTS12 EXON Synonymous_R885R exm448490 5 33596126 [T/C] NM_030955 ADAMTS12 EXON Missense_R856H exm-rs6868223 5 33636594 [A/G] NM_030955 ADAMTS12 Silent exm448549 5 33643548 [T/C] NM_030955 ADAMTS12 EXON Missense_V503M exm448551 5 33643559 [T/A] NM_030955 ADAMTS12 EXON Missense_L499Q exm448559 5 33649069 [T/C] NM_030955 ADAMTS12 EXON Missense_R446Q exm448566 5 33649717 [T/C] NM_030955 ADAMTS12 EXON Missense_D426N exm448569 5 33658326 [A/G] NM_030955 ADAMTS12 EXON Missense_P385S exm448579 5 33683146 [A/G] NM_030955 ADAMTS12 EXON Missense_L298F exm448589 5 33684053 [T/C] NM_030955 ADAMTS12 EXON Missense_V248M exm448594 5 33684121 [T/C] NM_030955 ADAMTS12 EXON Missense_E225G exm448604 5 33751626 [C/G] NM_030955 ADAMTS12 EXON Missense_D173H exm448608 5 33881252 [A/G] NM_030955 ADAMTS12 EXON Missense_T154M exm448618 5 33881385 [G/C] NM_030955 ADAMTS12 EXON Missense_Q110E exm448625 5 33881495 [T/C] NM_030955 ADAMTS12 EXON Missense_Y73C exm448632 5 33891873 [T/G] NM_030955 ADAMTS12 EXON Missense_P30H exm448633 5 33891894 [A/G] NM_030955 ADAMTS12 EXON Missense_A23V exm448634 5 33891937 [A/G] NM_030955 ADAMTS12 EXON Missense_L9F exm448641 5 33937015 [C/G] NM_016568 RXFP3 EXON Missense_P57R exm448651 5 33937171 [T/G] NM_016568 RXFP3 EXON Missense_M109R exm448653 5 33937242 [T/C] NM_016568 RXFP3 EXON Missense_L133F exm2099056 5 33937251 [A/C] NM_016568 RXFP3 EXON Missense_P136T exm448661 5 33937402 [T/C] NM_016568 RXFP3 EXON Missense_S186L exm448662 5 33937431 [T/C] NM_016568 RXFP3 EXON Missense_H196Y exm448668 5 33937558 [T/C] NM_016568 RXFP3 EXON Missense_T238M exm2242416 5 33937593 [T/C] NM_016568 RXFP3 EXON Missense_R250C exm448682 5 33938017 [T/C] NM_016568 RXFP3 EXON Missense_L391P exm448689 5 33938123 [A/C] NM_016568 RXFP3 EXON Missense_H426Q exm448697 5 33938205 [G/C] NM_016568 RXFP3 EXON Missense_V454L exm448705 5 33944827 [C/G] NM_016180 SLC45A2 EXON Missense_V507L exm448707 5 33944830 [T/C] NM_016180 SLC45A2 EXON Missense_V506I exm448708 5 33944836 [T/C] NM_016180 SLC45A2 EXON Missense_V504I exm448709 5 33944842 [T/C] NM_016180 SLC45A2 EXON Missense_G502R exm448715 5 33947284 [T/C] NM_016180,NM_001012509 SLC45A2,SLC45A2 EXON Missense_R451H,Missense_R451H exm2270197 5 33951116 [T/G] NM_016180,NM_001012509 SLC45A2,SLC45A2 Silent,Silent exm448731 5 33951725 [T/C] NM_016180,NM_001012509 SLC45A2,SLC45A2 EXON Missense_E364K,Missense_E364K exm448735 5 33951770 [T/C] NM_016180,NM_001012509 SLC45A2,SLC45A2 EXON Missense_G349R,Missense_G349R exm448744 5 33954545 [A/C] NM_016180,NM_001012509 SLC45A2,SLC45A2 EXON Missense_R318L,Missense_R318L exm448745 5 33954546 [A/G] NM_016180,NM_001012509 SLC45A2,SLC45A2 EXON Missense_R318C,Missense_R318C exm448747 5 33954606 [A/G] NM_016180,NM_001012509 SLC45A2,SLC45A2 EXON Missense_R298C,Missense_R298C exm-rs35391 5 33955673 [T/C] NM_016180,NM_001012509 SLC45A2,SLC45A2 Silent,Silent exm448750 5 33963870 [T/C] NM_016180,NM_001012509 SLC45A2,SLC45A2 EXON Missense_E272K,Missense_E272K exm448752 5 33963881 [T/C] NM_016180,NM_001012509 SLC45A2,SLC45A2 EXON Missense_Y268C,Missense_Y268C exm448753 5 33963885 [T/C] NM_016180,NM_001012509 SLC45A2,SLC45A2 EXON Missense_E267K,Missense_E267K exm448770 5 33984324 [T/C] NM_016180,NM_001012509 SLC45A2,SLC45A2 EXON Missense_N122S,Missense_N122S exm448788 5 33988445 [A/C] NM_014324,NR_037951,NM_001167595,NM_203382 AMACR,C1QTNF3-AMACR,AMACR,AMACR EXON Silent,Silent,Missense_L385V,Silent exm2099106 5 33989503 [C/G] NM_014324,NR_037951,NM_001167595,NM_203382 AMACR,C1QTNF3-AMACR,AMACR,AMACR EXON Missense_E282Q,Silent,Missense_E282Q,Silent exm448803 5 33989518 [T/C] NM_014324,NR_037951,NM_001167595,NM_203382 AMACR,C1QTNF3-AMACR,AMACR,AMACR EXON Missense_E277K,Silent,Missense_E277K,Silent exm448808 5 33989565 [A/G] NM_014324,NR_037951,NM_001167595,NM_203382 AMACR,C1QTNF3-AMACR,AMACR,AMACR EXON Missense_M261T,Silent,Missense_M261T,Silent exm448821 5 33998768 [A/C] NM_014324,NR_037951,NM_001167595,NM_203382 AMACR,C1QTNF3-AMACR,AMACR,AMACR EXON Missense_Q239H,Silent,Missense_Q239H,Missense_V186F exm448823 5 33998773 [A/G] NM_014324,NR_037951,NM_001167595,NM_203382 AMACR,C1QTNF3-AMACR,AMACR,AMACR EXON Missense_P238S,Silent,Missense_P238S,Missense_T184I exm448827 5 33998882 [T/C] NM_014324,NR_037951,NM_001167595,NM_203382 AMACR,C1QTNF3-AMACR,AMACR,AMACR EXON Synonymous_L201L,Silent,Synonymous_L201L,Missense_E148K exm448828 5 33998883 [A/G] NM_014324,NR_037951,NM_001167595,NM_203382 AMACR,C1QTNF3-AMACR,AMACR,AMACR EXON Missense_L201S,Silent,Missense_L201S,Synonymous_I147I exm448831 5 33998931 [A/G] NM_014324,NR_037951,NM_001167595,NM_203382 AMACR,C1QTNF3-AMACR,AMACR,AMACR EXON Missense_V185A,Silent,Missense_V185A,Synonymous_G131G exm448832 5 34004707 [T/C] NM_014324,NR_037951,NM_001167595,NM_203382 AMACR,C1QTNF3-AMACR,AMACR,AMACR EXON Missense_G175D,Silent,Missense_G175D,Silent exm448839 5 34005899 [T/C] NM_014324,NR_037951,NM_001167595,NM_203382 AMACR,C1QTNF3-AMACR,AMACR,AMACR EXON Missense_R118Q,Silent,Missense_R118Q,Missense_R118Q exm448850 5 34008016 [T/G] NM_014324,NR_037951,NM_001167595,NM_203382 AMACR,C1QTNF3-AMACR,AMACR,AMACR EXON Missense_P37T,Silent,Missense_P37T,Missense_P37T exm448857 5 34008100 [T/C] NM_014324,NR_037951,NM_001167595,NM_203382 AMACR,C1QTNF3-AMACR,AMACR,AMACR EXON Missense_V9M,Silent,Missense_V9M,Missense_V9M exm2257203 5 34016023 [T/C] NR_037951 C1QTNF3-AMACR Silent exm448869 5 34028972 [A/G] NR_037951,NM_030945,NM_181435 C1QTNF3-AMACR,C1QTNF3,C1QTNF3 EXON Silent,Missense_S123F,Missense_S196F exm448884 5 34035851 [T/C] NR_037951,NM_030945,NM_181435 C1QTNF3-AMACR,C1QTNF3,C1QTNF3 EXON Silent,Missense_G33R,Missense_G106R exm448887 5 34042975 [A/G] NR_037951,NM_030945,NM_181435 C1QTNF3-AMACR,C1QTNF3,C1QTNF3 EXON Silent,Silent,Missense_H86Y exm2265930 5 34622172 [A/G] exm-rs409045 5 34628627 [T/C] exm448900 5 34687817 [T/C] NM_015577,NM_001145522,NM_001145520,NM_001145521,NM_001145525,NM_001145523 RAI14,RAI14,RAI14,RAI14,RAI14,RAI14 EXON Silent,Silent,Silent,Silent,Silent,Missense_M1T exm448903 5 34757629 [T/G] NM_015577,NM_001145522,NM_001145520,NM_001145521,NM_001145525,NM_001145523 RAI14,RAI14,RAI14,RAI14,RAI14,RAI14 EXON Missense_D31E,Missense_D31E,Missense_D31E,Missense_D31E,Missense_D34E,Missense_D23E exm448906 5 34757666 [A/G] NM_015577,NM_001145522,NM_001145520,NM_001145521,NM_001145525,NM_001145523 RAI14,RAI14,RAI14,RAI14,RAI14,RAI14 EXON Missense_A44T,Missense_A44T,Missense_A44T,Missense_A44T,Missense_A47T,Missense_A36T exm448907 5 34757670 [A/G] NM_015577,NM_001145522,NM_001145520,NM_001145521,NM_001145525,NM_001145523 RAI14,RAI14,RAI14,RAI14,RAI14,RAI14 EXON Missense_S45N,Missense_S45N,Missense_S45N,Missense_S45N,Missense_S48N,Missense_S37N exm448917 5 34808695 [A/T] NM_015577,NM_001145522,NM_001145520,NM_001145521,NM_001145525,NM_001145523 RAI14,RAI14,RAI14,RAI14,RAI14,RAI14 EXON Missense_Q129L,Missense_Q129L,Missense_Q129L,Missense_Q129L,Missense_Q132L,Missense_Q121L exm448920 5 34808742 [A/G] NM_015577,NM_001145522,NM_001145520,NM_001145521,NM_001145525,NM_001145523 RAI14,RAI14,RAI14,RAI14,RAI14,RAI14 EXON Missense_I145V,Missense_I145V,Missense_I145V,Missense_I145V,Missense_I148V,Missense_I137V exm448937 5 34812039 [C/G] NM_015577,NM_001145522,NM_001145520,NM_001145521,NM_001145525,NM_001145523 RAI14,RAI14,RAI14,RAI14,RAI14,RAI14 EXON Missense_S242C,Missense_S242C,Missense_S242C,Missense_S242C,Missense_S245C,Missense_S234C exm448942 5 34814722 [T/C] NM_015577,NM_001145522,NM_001145520,NM_001145521,NM_001145525,NM_001145523 RAI14,RAI14,RAI14,RAI14,RAI14,RAI14 EXON Missense_S296L,Missense_S267L,Missense_S296L,Missense_S296L,Missense_S299L,Missense_S288L exm448944 5 34814745 [T/C] NM_015577,NM_001145522,NM_001145520,NM_001145521,NM_001145525,NM_001145523 RAI14,RAI14,RAI14,RAI14,RAI14,RAI14 EXON Missense_S304P,Missense_S275P,Missense_S304P,Missense_S304P,Missense_S307P,Missense_S296P exm448945 5 34814746 [T/C] NM_015577,NM_001145522,NM_001145520,NM_001145521,NM_001145525,NM_001145523 RAI14,RAI14,RAI14,RAI14,RAI14,RAI14 EXON Missense_S304L,Missense_S275L,Missense_S304L,Missense_S304L,Missense_S307L,Missense_S296L exm448949 5 34814767 [G/C] NM_015577,NM_001145522,NM_001145520,NM_001145521,NM_001145525,NM_001145523 RAI14,RAI14,RAI14,RAI14,RAI14,RAI14 EXON Missense_P311R,Missense_P282R,Missense_P311R,Missense_P311R,Missense_P314R,Missense_P303R exm448956 5 34821908 [A/G] NM_015577,NM_001145522,NM_001145520,NM_001145521,NM_001145525,NM_001145523 RAI14,RAI14,RAI14,RAI14,RAI14,RAI14 EXON Missense_V356I,Missense_V327I,Missense_V356I,Missense_V356I,Missense_V359I,Missense_V348I exm448972 5 34823442 [C/G] NM_015577,NM_001145522,NM_001145520,NM_001145521,NM_001145525,NM_001145523 RAI14,RAI14,RAI14,RAI14,RAI14,RAI14 EXON Missense_V499L,Missense_V470L,Missense_V499L,Missense_V499L,Missense_V502L,Missense_V491L exm448976 5 34823556 [G/C] NM_015577,NM_001145522,NM_001145520,NM_001145521,NM_001145525,NM_001145523 RAI14,RAI14,RAI14,RAI14,RAI14,RAI14 EXON Missense_Q537E,Missense_Q508E,Missense_Q537E,Missense_Q537E,Missense_Q540E,Missense_Q529E exm2099168 5 34823576 [A/C] NM_015577,NM_001145522,NM_001145520,NM_001145521,NM_001145525,NM_001145523 RAI14,RAI14,RAI14,RAI14,RAI14,RAI14 EXON Missense_L543F,Missense_L514F,Missense_L543F,Missense_L543F,Missense_L546F,Missense_L535F exm448979 5 34823604 [A/G] NM_015577,NM_001145522,NM_001145520,NM_001145521,NM_001145525,NM_001145523 RAI14,RAI14,RAI14,RAI14,RAI14,RAI14 EXON Missense_V553M,Missense_V524M,Missense_V553M,Missense_V553M,Missense_V556M,Missense_V545M exm448981 5 34823686 [A/C] NM_015577,NM_001145522,NM_001145520,NM_001145521,NM_001145525,NM_001145523 RAI14,RAI14,RAI14,RAI14,RAI14,RAI14 EXON Missense_K580T,Missense_K551T,Missense_K580T,Missense_K580T,Missense_K583T,Missense_K572T exm448993 5 34824108 [A/G] NM_015577,NM_001145522,NM_001145520,NM_001145521,NM_001145525,NM_001145523 RAI14,RAI14,RAI14,RAI14,RAI14,RAI14 EXON Missense_D721N,Missense_D692N,Missense_D721N,Missense_D721N,Missense_D724N,Missense_D713N exm449002 5 34824504 [C/G] NM_015577,NM_001145522,NM_001145520,NM_001145521,NM_001145525,NM_001145523 RAI14,RAI14,RAI14,RAI14,RAI14,RAI14 EXON Missense_L853V,Missense_L824V,Missense_L853V,Missense_L853V,Missense_L856V,Missense_L845V exm449003 5 34824555 [T/G] NM_015577,NM_001145522,NM_001145520,NM_001145521,NM_001145525,NM_001145523 RAI14,RAI14,RAI14,RAI14,RAI14,RAI14 EXON Missense_A870S,Missense_A841S,Missense_A870S,Missense_A870S,Missense_A873S,Missense_A862S exm449013 5 34826584 [A/G] NM_015577,NM_001145522,NM_001145520,NM_001145521,NM_001145525,NM_001145523 RAI14,RAI14,RAI14,RAI14,RAI14,RAI14 EXON Synonymous_A933A,Synonymous_A904A,Synonymous_A933A,Synonymous_A933A,Synonymous_A936A,Synonymous_A925A exm449014 5 34829851 [A/C] NM_015577,NM_001145522,NM_001145520,NM_001145521,NM_001145525,NM_001145523 RAI14,RAI14,RAI14,RAI14,RAI14,RAI14 EXON Missense_Q938H,Missense_Q909H,Missense_Q938H,Missense_Q938H,Missense_Q941H,Missense_Q930H exm449023 5 34840840 [T/C] NM_144725 TTC23L EXON Missense_H22Y exm449024 5 34840841 [A/G] NM_144725 TTC23L EXON Missense_H22R exm449029 5 34845722 [A/G] NM_144725 TTC23L EXON Missense_K67E exm2242421 5 34845748 [T/G] NM_144725 TTC23L EXON Missense_K75N exm449031 5 34850389 [A/G] NM_144725 TTC23L EXON Missense_A119T exm449034 5 34863072 [T/C] NM_144725 TTC23L EXON Missense_T150M exm449035 5 34863080 [A/G] NM_144725 TTC23L EXON Missense_N153D exm449040 5 34864589 [A/C] NM_144725 TTC23L EXON Missense_K195T exm449050 5 34869025 [A/G] NM_144725 TTC23L EXON Missense_V286I exm449053 5 34880310 [A/G] NM_144725 TTC23L EXON Missense_R325K exm449054 5 34880327 [T/C] NM_144725 TTC23L EXON Nonsense_R331X exm449055 5 34880331 [T/C] NM_144725 TTC23L EXON Missense_A332V exm449057 5 34880388 [T/G] NM_144725 TTC23L EXON Missense_W351L exm449067 5 34909420 [T/C] NM_002853,NR_026591 RAD1,RAD1 EXON Missense_Y203C,Silent exm449079 5 34911884 [T/C] NM_002853,NR_026591 RAD1,RAD1 EXON Missense_G114D,Silent exm449081 5 34911900 [A/G] NM_002853,NR_026591 RAD1,RAD1 EXON Nonsense_R109X,Silent exm449083 5 34911914 [C/G] NM_002853,NR_026591 RAD1,RAD1 EXON Missense_T104S,Silent exm2242423 5 34913578 [A/G] NM_002853,NR_026591 RAD1,RAD1 EXON Missense_P102S,Silent exm449085 5 34913599 [T/C] NM_002853,NR_026591 RAD1,RAD1 EXON Missense_I95V,Silent exm2099204 5 34919970 [C/G] NM_018321 BRIX1 EXON Missense_K99N exm449123 5 34922872 [G/C] NM_018321 BRIX1 EXON Missense_P170R exm449126 5 34923254 [A/G] NM_018321 BRIX1 EXON Missense_R193Q exm449134 5 34925334 [T/C] NM_018321 BRIX1 EXON Missense_R266W exm449141 5 34925545 [T/G] NM_018321 BRIX1 EXON Missense_I336S exm449151 5 34935870 [T/G] NM_001012339,NM_194283 DNAJC21,DNAJC21 EXON Missense_D83Y,Missense_D83Y exm449156 5 34936267 [T/C] NM_001012339,NM_194283 DNAJC21,DNAJC21 EXON Missense_R112C,Missense_R112C exm449170 5 34937648 [T/C] NM_001012339,NM_194283 DNAJC21,DNAJC21 EXON Missense_A219V,Missense_A219V exm2099233 5 34939040 [A/G] NM_001012339,NM_194283 DNAJC21,DNAJC21 EXON Missense_R274Q,Missense_R274Q exm449183 5 34941237 [A/G] NM_001012339,NM_194283 DNAJC21,DNAJC21 EXON Missense_Y311C,Missense_Y311C exm449184 5 34941249 [A/T] NM_001012339,NM_194283 DNAJC21,DNAJC21 EXON Missense_Y315F,Missense_Y315F exm449185 5 34941263 [A/G] NM_001012339,NM_194283 DNAJC21,DNAJC21 EXON Missense_D320N,Missense_D320N exm449192 5 34945004 [A/G] NM_001012339,NM_194283 DNAJC21,DNAJC21 EXON Missense_R339Q,Missense_R339Q exm449193 5 34945012 [A/G] NM_001012339,NM_194283 DNAJC21,DNAJC21 EXON Missense_V342M,Missense_V342M exm449200 5 34945907 [A/G] NM_001012339,NM_194283 DNAJC21,DNAJC21 EXON Missense_Q395R,Missense_Q395R exm449205 5 34949702 [T/G] NM_001012339,NM_194283 DNAJC21,DNAJC21 EXON Silent,Nonsense_G414X exm449208 5 34949744 [A/G] NM_001012339,NM_194283 DNAJC21,DNAJC21 EXON Silent,Missense_E428K exm449209 5 34949747 [T/C] NM_001012339,NM_194283 DNAJC21,DNAJC21 EXON Silent,Missense_H429Y exm449216 5 34950386 [A/G] NM_001012339,NM_194283 DNAJC21,DNAJC21 EXON Missense_E433K,Missense_E478K exm449217 5 34950404 [A/G] NM_001012339,NM_194283 DNAJC21,DNAJC21 EXON Missense_E439K,Missense_E484K exm449228 5 34954704 [A/G] NM_001012339,NM_194283 DNAJC21,DNAJC21 EXON Missense_R494Q,Missense_R539Q exm2265931 5 34992556 [A/G] exm449238 5 34998865 [A/G] NM_031900 AGXT2 EXON Missense_R502C exm449239 5 34998877 [A/C] NM_031900 AGXT2 EXON Missense_V498L exm449240 5 34998894 [C/G] NM_031900 AGXT2 EXON Missense_P492R exm449241 5 34998918 [A/G] NM_031900 AGXT2 EXON Missense_A484V exm449242 5 34998925 [A/G] NM_031900 AGXT2 EXON Missense_R482C exm449251 5 35010152 [T/C] NM_031900 AGXT2 EXON Missense_V431I exm2242425 5 35010161 [A/C] NM_031900 AGXT2 EXON Missense_V428F exm449255 5 35010176 [T/C] NM_031900 AGXT2 EXON Missense_D423N exm449260 5 35010254 [A/C] NM_031900 AGXT2 EXON Missense_V397L exm449261 5 35013058 [T/C] NM_031900 AGXT2 Silent exm449279 5 35025899 [T/C] NM_031900 AGXT2 EXON Missense_R311Q exm2099272 5 35032840 [A/G] NM_031900 AGXT2 EXON Missense_P256S exm449295 5 35032881 [T/C] NM_031900 AGXT2 EXON Missense_R242Q exm449296 5 35032893 [T/C] NM_031900 AGXT2 EXON Missense_G238E exm449301 5 35033605 [A/G] NM_031900 AGXT2 EXON Missense_T212I exm2099276 5 35035360 [A/G] NM_031900 AGXT2 EXON Missense_A183V exm449312 5 35037115 [T/C] NM_031900 AGXT2 EXON Missense_V140I exm449315 5 35037135 [T/C] NM_031900 AGXT2 EXON Missense_R133H exm449316 5 35037136 [A/G] NM_031900 AGXT2 EXON Missense_R133C exm449317 5 35037139 [G/C] NM_031900 AGXT2 EXON Missense_G132R exm449325 5 35039486 [T/C] NM_031900 AGXT2 EXON Missense_S102N exm449327 5 35039555 [A/G] NM_031900 AGXT2 EXON Missense_T79M exm449331 5 35047909 [T/C] NM_031900 AGXT2 Silent exm449338 5 35047981 [T/C] NM_031900 AGXT2 EXON Missense_R6K exm449351 5 35065328 [G/C] NM_001204318,NM_001204316,NR_037910,NM_001204317,NM_001204314,NM_000949,NM_001204315 PRLR,PRLR,PRLR,PRLR,PRLR,PRLR,PRLR EXON Silent,Silent,Silent,Silent,Missense_E477Q,Missense_E578Q,Silent exm449352 5 35065355 [T/C] NM_001204318,NM_001204316,NR_037910,NM_001204317,NM_001204314,NM_000949,NM_001204315 PRLR,PRLR,PRLR,PRLR,PRLR,PRLR,PRLR EXON Silent,Silent,Silent,Silent,Missense_V468M,Missense_V569M,Silent exm449354 5 35065385 [T/C] NM_001204318,NM_001204316,NR_037910,NM_001204317,NM_001204314,NM_000949,NM_001204315 PRLR,PRLR,PRLR,PRLR,PRLR,PRLR,PRLR EXON Silent,Silent,Silent,Silent,Missense_V458M,Missense_V559M,Silent exm449357 5 35065448 [T/C] NM_001204318,NM_001204316,NR_037910,NM_001204317,NM_001204314,NM_000949,NM_001204315 PRLR,PRLR,PRLR,PRLR,PRLR,PRLR,PRLR EXON Silent,Silent,Silent,Silent,Missense_G437R,Missense_G538R,Missense_R347Q exm449360 5 35065513 [T/A] NM_001204318,NM_001204316,NR_037910,NM_001204317,NM_001204314,NM_000949,NM_001204315 PRLR,PRLR,PRLR,PRLR,PRLR,PRLR,PRLR EXON Silent,Silent,Silent,Silent,Missense_N415I,Missense_N516I,Silent exm449361 5 35065547 [T/C] NM_001204318,NM_001204316,NR_037910,NM_001204317,NM_001204314,NM_000949,NM_001204315 PRLR,PRLR,PRLR,PRLR,PRLR,PRLR,PRLR EXON Silent,Silent,Silent,Silent,Missense_K404E,Missense_K505E,Silent exm449364 5 35065631 [T/C] NM_001204318,NM_001204316,NR_037910,NM_001204317,NM_001204314,NM_000949,NM_001204315 PRLR,PRLR,PRLR,PRLR,PRLR,PRLR,PRLR EXON Silent,Silent,Silent,Silent,Missense_R376G,Missense_R477G,Silent exm449375 5 35065834 [C/G] NM_001204318,NM_001204316,NR_037910,NM_001204317,NM_001204314,NM_000949,NM_001204315 PRLR,PRLR,PRLR,PRLR,PRLR,PRLR,PRLR EXON Silent,Silent,Silent,Silent,Missense_G308A,Missense_G409A,Silent exm449378 5 35065862 [C/G] NM_001204318,NM_001204316,NR_037910,NM_001204317,NM_001204314,NM_000949,NM_001204315 PRLR,PRLR,PRLR,PRLR,PRLR,PRLR,PRLR EXON Silent,Silent,Silent,Silent,Missense_E299Q,Missense_E400Q,Silent exm449382 5 35066008 [T/C] NM_001204318,NM_001204316,NR_037910,NM_001204317,NM_001204314,NM_000949,NM_001204315 PRLR,PRLR,PRLR,PRLR,PRLR,PRLR,PRLR EXON Silent,Silent,Silent,Silent,Missense_R250Q,Missense_R351Q,Silent exm449384 5 35066030 [A/C] NM_001204318,NM_001204316,NR_037910,NM_001204317,NM_001204314,NM_000949,NM_001204315 PRLR,PRLR,PRLR,PRLR,PRLR,PRLR,PRLR EXON Silent,Silent,Silent,Silent,Missense_D243Y,Missense_D344Y,Silent exm449389 5 35068900 [T/C] NM_001204318,NM_001204316,NR_037910,NM_001204317,NM_001204314,NM_000949,NM_001204315 PRLR,PRLR,PRLR,PRLR,PRLR,PRLR,PRLR EXON Silent,Missense_V256M,Silent,Missense_V256M,Missense_V155M,Missense_V256M,Missense_V256M exm449392 5 35068967 [T/A] NM_001204318,NM_001204316,NR_037910,NM_001204317,NM_001204314,NM_000949,NM_001204315 PRLR,PRLR,PRLR,PRLR,PRLR,PRLR,PRLR EXON Silent,Missense_N233K,Silent,Missense_N233K,Missense_N132K,Missense_N233K,Missense_N233K exm449393 5 35070226 [T/C] NM_001204318,NM_001204316,NR_037910,NM_001204317,NM_001204314,NM_000949,NM_001204315 PRLR,PRLR,PRLR,PRLR,PRLR,PRLR,PRLR EXON Missense_G229S,Missense_D229N,Silent,Missense_D229N,Missense_D128N,Missense_D229N,Missense_D229N exm449397 5 35072685 [T/C] NM_001204318,NM_001204316,NR_037910,NM_001204317,NM_001204314,NM_000949,NM_001204315 PRLR,PRLR,PRLR,PRLR,PRLR,PRLR,PRLR EXON Missense_E179K,Missense_E179K,Silent,Missense_E179K,Missense_E78K,Missense_E179K,Missense_E179K exm449399 5 35072712 [T/G] NM_001204318,NM_001204316,NR_037910,NM_001204317,NM_001204314,NM_000949,NM_001204315 PRLR,PRLR,PRLR,PRLR,PRLR,PRLR,PRLR EXON Missense_I170L,Missense_I170L,Silent,Missense_I170L,Missense_I69L,Missense_I170L,Missense_I170L exm449403 5 35084647 [T/C] NM_001204318,NM_001204316,NR_037910,NM_001204317,NM_001204314,NM_000949,NM_001204315 PRLR,PRLR,PRLR,PRLR,PRLR,PRLR,PRLR EXON Missense_I100V,Missense_I100V,Silent,Missense_I100V,Silent,Missense_I100V,Missense_I100V exm449405 5 35084704 [T/C] NM_001204318,NM_001204316,NR_037910,NM_001204317,NM_001204314,NM_000949,NM_001204315 PRLR,PRLR,PRLR,PRLR,PRLR,PRLR,PRLR EXON Missense_G81S,Missense_G81S,Silent,Missense_G81S,Silent,Missense_G81S,Missense_G81S exm2099320 5 35089765 [A/C] NM_001204318,NM_001204316,NR_037910,NM_001204317,NM_001204314,NM_000949,NM_001204315 PRLR,PRLR,PRLR,PRLR,PRLR,PRLR,PRLR EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent exm2266070 5 35118848 [A/G] NM_000949 PRLR Silent exm-rs1605677 5 35600210 [A/C] exm449420 5 35641582 [A/C] NM_144722,NM_024867 SPEF2,SPEF2 EXON Missense_N71H,Missense_N71H exm449423 5 35641619 [A/G] NM_144722,NM_024867 SPEF2,SPEF2 EXON Missense_H83R,Missense_H83R exm449425 5 35641648 [A/G] NM_144722,NM_024867 SPEF2,SPEF2 EXON Missense_A93T,Missense_A93T exm449428 5 35641717 [A/G] NM_144722,NM_024867 SPEF2,SPEF2 EXON Missense_E116K,Missense_E116K exm449430 5 35641769 [A/G] NM_144722,NM_024867 SPEF2,SPEF2 EXON Missense_S133N,Missense_S133N exm449433 5 35644530 [A/G] NM_144722,NM_024867 SPEF2,SPEF2 EXON Missense_Y163C,Missense_Y163C exm449437 5 35646784 [A/G] NM_144722,NM_024867 SPEF2,SPEF2 EXON Missense_R201G,Missense_R201G exm449446 5 35654674 [A/G] NM_144722,NM_024867 SPEF2,SPEF2 EXON Missense_Q275R,Missense_Q275R exm2274067 5 35654688 [A/T] NM_144722,NM_024867 SPEF2,SPEF2 EXON Missense_L280M,Missense_L280M exm449451 5 35654784 [T/C] NM_144722,NM_024867 SPEF2,SPEF2 EXON Missense_R312W,Missense_R312W exm449458 5 35659152 [A/G] NM_144722,NM_024867 SPEF2,SPEF2 EXON Missense_R337Q,Missense_R337Q exm449462 5 35659239 [A/G] NM_144722,NM_024867 SPEF2,SPEF2 EXON Missense_R366K,Missense_R366K exm449467 5 35667226 [A/G] NM_144722,NM_024867 SPEF2,SPEF2 EXON Missense_K407R,Missense_K407R exm449470 5 35667268 [A/G] NM_144722,NM_024867 SPEF2,SPEF2 EXON Missense_R421H,Missense_R421H exm449475 5 35667346 [A/G] NM_144722,NM_024867 SPEF2,SPEF2 EXON Missense_R447Q,Missense_R447Q exm449482 5 35670303 [A/G] NM_144722,NM_024867 SPEF2,SPEF2 EXON Missense_D500N,Missense_D500N exm449483 5 35691142 [A/G] NM_024867 SPEF2 EXON Missense_M510V exm449488 5 35691169 [T/G] NM_024867 SPEF2 EXON Nonsense_E519X exm449492 5 35691233 [T/C] NM_024867 SPEF2 EXON Missense_A540V exm449493 5 35691247 [T/C] NM_024867 SPEF2 EXON Missense_P545S exm449502 5 35692775 [A/T] NM_024867 SPEF2 EXON Missense_N616K exm449507 5 35694454 [A/G] NM_024867 SPEF2 EXON Missense_E655G exm449516 5 35697881 [A/G] NM_024867 SPEF2 EXON Missense_I709M exm449519 5 35700598 [T/C] NM_024867 SPEF2 EXON Synonymous_N714N exm449521 5 35700687 [T/G] NM_024867 SPEF2 EXON Missense_C744F exm449524 5 35700837 [A/G] NM_024867 SPEF2 EXON Missense_R794H exm449525 5 35700846 [A/G] NM_024867 SPEF2 EXON Missense_D797G exm449530 5 35704686 [A/G] NM_024867 SPEF2 EXON Missense_E810G exm449536 5 35705844 [A/C] NM_024867 SPEF2 EXON Missense_K867Q exm449546 5 35709184 [G/C] NM_024867 SPEF2 EXON Missense_A934P exm449558 5 35727783 [T/C] NM_024867 SPEF2 EXON Missense_P974L exm449560 5 35727857 [A/G] NM_024867 SPEF2 EXON Missense_A999T exm449563 5 35740256 [T/C] NM_024867 SPEF2 EXON Missense_R1073C exm449564 5 35740257 [A/G] NM_024867 SPEF2 EXON Missense_R1073H exm2242431 5 35753762 [G/C] NM_024867 SPEF2 EXON Missense_R1123G exm2099373 5 35753763 [A/G] NM_024867 SPEF2 EXON Missense_R1123Q exm449571 5 35753844 [A/G] NM_024867 SPEF2 EXON Missense_H1150R exm449579 5 35759812 [T/G] NM_024867 SPEF2 EXON Missense_S1204I exm449580 5 35759821 [A/G] NM_024867 SPEF2 EXON Missense_R1207K exm449583 5 35763641 [G/C] NM_024867 SPEF2 EXON Missense_R1213P exm2099375 5 35763699 [C/G] NM_024867 SPEF2 EXON Missense_K1232N exm449588 5 35763802 [T/A] NM_024867 SPEF2 EXON Missense_M1267L exm449594 5 35771738 [A/G] NM_024867 SPEF2 EXON Missense_M1277V exm449607 5 35774079 [T/G] NM_024867 SPEF2 EXON Missense_R1345M exm449612 5 35776479 [A/G] NM_024867 SPEF2 EXON Missense_Y1400C exm449615 5 35779248 [A/G] NM_024867 SPEF2 EXON Missense_Y1416C exm2242432 5 35779350 [A/C] NM_024867 SPEF2 EXON Nonsense_S1450X exm449620 5 35779419 [A/G] NM_024867 SPEF2 EXON Missense_R1473Q exm449621 5 35779447 [A/C] NM_024867 SPEF2 EXON Missense_K1482N exm449625 5 35792507 [A/G] NM_024867 SPEF2 EXON Missense_N1505D exm449630 5 35793313 [A/G] NM_024867 SPEF2 EXON Missense_R1536Q exm449631 5 35793359 [C/G] NM_024867 SPEF2 EXON Missense_E1551D exm449633 5 35795823 [A/G] NM_024867 SPEF2 EXON Missense_G1586R exm449634 5 35795841 [A/G] NM_024867 SPEF2 EXON Missense_I1592V exm449637 5 35795887 [A/C] NM_024867 SPEF2 EXON Missense_H1607P exm2257207 5 35800165 [T/G] NM_024867 SPEF2 EXON Synonymous_V1642V exm-rs931555 5 35803577 [T/C] NM_024867 SPEF2 Silent exm449648 5 35806922 [A/T] NM_024867 SPEF2 EXON Missense_E1708D exm449650 5 35806960 [T/C] NM_024867 SPEF2 EXON Missense_M1721T exm449656 5 35814566 [G/C] NM_024867 SPEF2 EXON Missense_D1794H exm449658 5 35814609 [T/G] NM_024867 SPEF2 EXON Missense_S1808I exm449670 5 35861023 [T/C] NM_002185 IL7R EXON Missense_S51L exm449674 5 35861068 [T/C] NM_002185 IL7R EXON Missense_I66T exm449675 5 35861085 [G/C] NM_002185 IL7R EXON Missense_E72Q exm449676 5 35867425 [T/C] NM_002185 IL7R EXON Missense_V80A exm2099406 5 35867500 [A/G] NM_002185 IL7R EXON Missense_S105N exm449682 5 35867525 [A/C] NM_002185 IL7R EXON Missense_E113D exm449685 5 35867559 [A/G] NM_002185 IL7R EXON Missense_T125A exm449689 5 35871190 [A/G] NM_002185 IL7R EXON Missense_V138I exm449696 5 35871287 [A/G] NM_002185 IL7R EXON Missense_R170H exm449709 5 35874551 [A/G] NM_002185 IL7R EXON Missense_G236E exm449711 5 35874575 [T/C] NM_002185 IL7R EXON Missense_T244I exm449714 5 35874604 [A/G] NM_002185 IL7R EXON Missense_A254T exm449717 5 35874622 [A/G] NM_002185 IL7R EXON Missense_A260T exm449730 5 35876251 [A/C] NM_002185 IL7R EXON Missense_N348T exm449731 5 35876256 [T/C] NM_002185 IL7R EXON Missense_P350S exm449732 5 35876274 [A/G] NM_002185 IL7R EXON Missense_I356V exm449735 5 35876304 [T/C] NM_002185 IL7R EXON Missense_S366P exm449740 5 35876373 [C/G] NM_002185 IL7R EXON Missense_D389H exm449746 5 35876439 [A/G] NM_002185 IL7R EXON Missense_T411A exm449748 5 35876449 [T/C] NM_002185 IL7R EXON Missense_T414M exm449754 5 35876565 [T/C] NM_002185 IL7R EXON Missense_S453P exm449760 5 35904662 [A/G] NM_144647,NM_001042625 CAPSL,CAPSL EXON Synonymous_T204T,Synonymous_T204T exm2257208 5 35904662 [A/G] NM_144647,NM_001042625 CAPSL,CAPSL EXON Synonymous_T204T,Synonymous_T204T exm449761 5 35904673 [T/C] NM_144647,NM_001042625 CAPSL,CAPSL EXON Missense_M201V,Missense_M201V exm2099421 5 35904688 [A/C] NM_144647,NM_001042625 CAPSL,CAPSL EXON Missense_V196L,Missense_V196L exm449785 5 35910529 [T/C] NM_144647,NM_001042625 CAPSL,CAPSL EXON Missense_R85Q,Missense_R85Q exm449789 5 35910604 [T/G] NM_144647,NM_001042625 CAPSL,CAPSL EXON Missense_D60A,Missense_D60A exm449791 5 35910613 [T/C] NM_144647,NM_001042625 CAPSL,CAPSL EXON Missense_R57Q,Missense_R57Q exm2099432 5 35910614 [G/C] NM_144647,NM_001042625 CAPSL,CAPSL EXON Missense_R57G,Missense_R57G exm449802 5 35921161 [A/G] NM_144647,NM_001042625 CAPSL,CAPSL EXON Missense_T21M,Missense_T21M exm-rs852251 5 35922462 [A/G] NM_144647,NM_001042625 CAPSL,CAPSL Silent,Silent exm-rs860413 5 35943042 [A/C] exm2099437 5 35954309 [T/A] NM_152404 UGT3A1 EXON Missense_T523S exm2099439 5 35954377 [A/G] NM_152404 UGT3A1 EXON Missense_M500T exm449828 5 35955790 [T/C] NM_152404 UGT3A1 EXON Missense_D418N exm449830 5 35955811 [A/G] NM_152404 UGT3A1 EXON Missense_R411W exm2099449 5 35955850 [T/C] NM_152404 UGT3A1 EXON Missense_M398V exm449838 5 35955951 [T/C] NM_152404 UGT3A1 EXON Missense_R364H exm449839 5 35955968 [T/G] NM_152404 UGT3A1 Silent exm449841 5 35957322 [A/G] NM_152404 UGT3A1 EXON Missense_I348T exm449850 5 35965556 [A/G] NM_152404,NM_001171873 UGT3A1,UGT3A1 EXON Missense_R259W,Missense_R205W exm449852 5 35965583 [T/A] NM_152404,NM_001171873 UGT3A1,UGT3A1 EXON Missense_N250Y,Missense_N196Y exm449859 5 35965745 [A/C] NM_152404,NM_001171873 UGT3A1,UGT3A1 EXON Missense_D196Y,Missense_D142Y exm449866 5 35965970 [A/C] NM_152404,NM_001171873 UGT3A1,UGT3A1 EXON Missense_C121G,Missense_C67G exm449869 5 35965993 [A/T] NM_152404,NM_001171873 UGT3A1,UGT3A1 EXON Missense_L113Q,Missense_L59Q exm449871 5 35968122 [T/C] NM_152404,NM_001171873 UGT3A1,UGT3A1 EXON Missense_R104G,Missense_R50G exm449873 5 35968179 [T/G] NM_152404,NM_001171873 UGT3A1,UGT3A1 EXON Missense_H85N,Missense_H31N exm2099473 5 35991299 [A/G] NM_152404,NM_001171873 UGT3A1,UGT3A1 EXON Missense_S15F,Silent exm449887 5 36035841 [T/C] NR_031764,NM_001168316,NM_174914 UGT3A2,UGT3A2,UGT3A2 EXON Silent,Missense_V477I,Missense_V511I exm449890 5 36035892 [A/C] NR_031764,NM_001168316,NM_174914 UGT3A2,UGT3A2,UGT3A2 EXON Silent,Missense_G460W,Missense_G494W exm449892 5 36035951 [T/C] NR_031764,NM_001168316,NM_174914 UGT3A2,UGT3A2,UGT3A2 EXON Silent,Missense_Y440C,Missense_Y474C exm449897 5 36036039 [A/G] NR_031764,NM_001168316,NM_174914 UGT3A2,UGT3A2,UGT3A2 EXON Silent,Missense_R411C,Missense_R445C exm449900 5 36036066 [T/C] NR_031764,NM_001168316,NM_174914 UGT3A2,UGT3A2,UGT3A2 EXON Silent,Missense_A402T,Missense_A436T exm449907 5 36038028 [A/G] NR_031764,NM_001168316,NM_174914 UGT3A2,UGT3A2,UGT3A2 EXON Silent,Missense_P355L,Missense_P389L exm449931 5 36049244 [A/G] NR_031764,NM_001168316,NM_174914 UGT3A2,UGT3A2,UGT3A2 EXON Silent,Missense_F163S,Missense_F197S exm449937 5 36049416 [T/C] NR_031764,NM_001168316,NM_174914 UGT3A2,UGT3A2,UGT3A2 EXON Silent,Missense_D106N,Missense_D140N exm449939 5 36049420 [G/C] NR_031764,NM_001168316,NM_174914 UGT3A2,UGT3A2,UGT3A2 EXON Silent,Missense_N104K,Missense_N138K exm449941 5 36049454 [G/C] NR_031764,NM_001168316,NM_174914 UGT3A2,UGT3A2,UGT3A2 EXON Silent,Missense_R93T,Missense_R127T exm449943 5 36052004 [T/A] NR_031764,NM_001168316,NM_174914 UGT3A2,UGT3A2,UGT3A2 EXON Silent,Missense_F59L,Missense_F93L exm449944 5 36052011 [T/G] NR_031764,NM_001168316,NM_174914 UGT3A2,UGT3A2,UGT3A2 EXON Silent,Missense_K57T,Missense_K91T exm449945 5 36052057 [T/C] NR_031764,NM_001168316,NM_174914 UGT3A2,UGT3A2,UGT3A2 EXON Silent,Missense_V42I,Missense_V76I exm449946 5 36052063 [A/T] NR_031764,NM_001168316,NM_174914 UGT3A2,UGT3A2,UGT3A2 EXON Silent,Missense_Y40N,Missense_Y74N exm449947 5 36064366 [T/C] NR_031764,NM_001168316,NM_174914 UGT3A2,UGT3A2,UGT3A2 EXON Silent,Silent,Missense_G61S exm449948 5 36064392 [T/C] NR_031764,NM_001168316,NM_174914 UGT3A2,UGT3A2,UGT3A2 EXON Silent,Silent,Missense_N52S exm449964 5 36105254 [T/C] NM_001007527 LMBRD2 EXON Missense_R648Q exm449965 5 36105266 [T/G] NM_001007527 LMBRD2 EXON Missense_T644N exm449972 5 36108728 [T/C] NM_001007527 LMBRD2 EXON Missense_R602H exm2242439 5 36136481 [A/G] NM_001007527 LMBRD2 EXON Missense_T226M exm-rs267759 5 36137620 [A/G] NM_001007527 LMBRD2 Silent exm450019 5 36141302 [T/C] NM_001007527 LMBRD2 EXON Missense_Q92R exm450025 5 36143370 [T/C] NM_001007527 LMBRD2 EXON Missense_K28E exm450055 5 36171711 [T/G] NM_005983,NM_032637,NM_001243120 SKP2,SKP2,SKP2 EXON Missense_D259E,Missense_D259E,Missense_D45E exm450078 5 36183971 [A/G] NM_005983,NM_032637,NM_001243120 SKP2,SKP2,SKP2 EXON Silent,Missense_R364Q,Silent exm2099587 5 36184044 [A/C] NM_005983,NM_032637,NM_001243120 SKP2,SKP2,SKP2 EXON Silent,Nonsense_C388X,Silent exm450092 5 36195305 [T/C] NM_001085411,NM_153013 NADKD1,NADKD1 EXON Missense_I424V,Missense_I261V exm450094 5 36195350 [T/C] NM_001085411,NM_153013 NADKD1,NADKD1 EXON Missense_M409V,Missense_M246V exm450103 5 36211967 [A/G] NM_001085411,NM_153013 NADKD1,NADKD1 EXON Missense_I280T,Missense_I117T exm450111 5 36217959 [A/T] NM_001085411,NM_153013 NADKD1,NADKD1 EXON Missense_L224F,Missense_L61F exm450113 5 36219710 [T/C] NM_001085411,NM_153013 NADKD1,NADKD1 EXON Missense_R211H,Missense_R48H exm2257213 5 36219727 [T/G] NM_001085411,NM_153013 NADKD1,NADKD1 EXON Synonymous_A205A,Synonymous_A42A exm450115 5 36219727 [T/G] NM_001085411,NM_153013 NADKD1,NADKD1 EXON Synonymous_A205A,Synonymous_A42A exm450125 5 36226617 [T/G] NM_001085411,NM_153013 NADKD1,NADKD1 EXON Missense_E146D,Silent exm450128 5 36227609 [T/C] NM_001085411,NM_153013 NADKD1,NADKD1 EXON Missense_K120R,Silent exm450129 5 36227619 [T/C] NM_001085411,NM_153013 NADKD1,NADKD1 EXON Missense_I117V,Silent exm450142 5 36251432 [T/A] NM_145000,NM_001161429 RANBP3L,RANBP3L EXON Missense_V446D,Missense_V471D exm450148 5 36251528 [T/G] NM_145000,NM_001161429 RANBP3L,RANBP3L EXON Missense_K414T,Missense_K439T exm2266071 5 36255364 [A/G] NM_145000,NM_001161429 RANBP3L,RANBP3L Silent,Silent exm450157 5 36255595 [T/C] NM_145000,NM_001161429 RANBP3L,RANBP3L EXON Missense_C334Y,Missense_C359Y exm450158 5 36255622 [T/C] NM_145000,NM_001161429 RANBP3L,RANBP3L EXON Missense_R325K,Missense_R350K exm450165 5 36257134 [A/G] NM_145000,NM_001161429 RANBP3L,RANBP3L EXON Missense_A271V,Missense_A296V exm450167 5 36257582 [T/G] NM_145000,NM_001161429 RANBP3L,RANBP3L EXON Missense_K249T,Missense_K274T exm450189 5 36265559 [T/G] NM_145000,NM_001161429 RANBP3L,RANBP3L EXON Missense_A111D,Missense_A136D exm450191 5 36268315 [T/G] NM_145000,NM_001161429 RANBP3L,RANBP3L EXON Silent,Missense_T108N exm450192 5 36268364 [T/G] NM_145000,NM_001161429 RANBP3L,RANBP3L EXON Silent,Missense_T92P exm450195 5 36269551 [C/G] NM_145000,NM_001161429 RANBP3L,RANBP3L EXON Missense_T70R,Missense_T70R exm450205 5 36301440 [A/G] NM_145000,NM_001161429 RANBP3L,RANBP3L EXON Missense_R27W,Missense_R27W exm-rs7735940 5 36423931 [T/G] exm2264117 5 36433052 [A/C] exm450218 5 36608593 [A/G] NM_004172,NM_001166696,NM_001166695 SLC1A3,SLC1A3,SLC1A3 EXON Missense_R23H,Missense_R23H,Missense_R23H exm450219 5 36608594 [T/A] NM_004172,NM_001166696,NM_001166695 SLC1A3,SLC1A3,SLC1A3 EXON Synonymous_R23R,Synonymous_R23R,Synonymous_R23R exm2257214 5 36608594 [T/A] NM_004172,NM_001166696,NM_001166695 SLC1A3,SLC1A3,SLC1A3 EXON Synonymous_R23R,Synonymous_R23R,Synonymous_R23R exm450220 5 36608604 [T/C] NM_004172,NM_001166696,NM_001166695 SLC1A3,SLC1A3,SLC1A3 EXON Missense_L27F,Missense_L27F,Missense_L27F exm450227 5 36629591 [A/G] NM_004172,NM_001166695 SLC1A3,SLC1A3 EXON Missense_S74N,Missense_S74N exm450228 5 36629597 [A/G] NM_004172,NM_001166695 SLC1A3,SLC1A3 EXON Missense_R76Q,Missense_R76Q exm450247 5 36677083 [C/G] NM_004172,NM_001166695 SLC1A3,SLC1A3 EXON Missense_E219D,Missense_E219D exm450248 5 36677102 [G/C] NM_004172,NM_001166695 SLC1A3,SLC1A3 EXON Missense_R226G,Missense_R226G exm2270036 5 36678275 [T/C] NM_004172,NM_001166695 SLC1A3,SLC1A3 Silent,Silent exm450255 5 36679739 [A/G] NM_004172,NM_001166695 SLC1A3,SLC1A3 EXON Missense_V291M,Missense_V291M exm450261 5 36680556 [A/G] NM_004172,NM_001166695 SLC1A3,SLC1A3 EXON Missense_R385H,Missense_R385H exm450266 5 36684048 [A/G] NM_004172,NM_001166695 SLC1A3,SLC1A3 EXON Missense_V458I,Silent exm-rs292182 5 36954812 [A/G] NM_133433,NM_015384 NIPBL,NIPBL Silent,Silent exm450275 5 36955688 [A/G] NM_133433,NM_015384 NIPBL,NIPBL EXON Missense_N60S,Missense_N60S exm450286 5 36962301 [A/G] NM_133433,NM_015384 NIPBL,NIPBL EXON Missense_A179T,Missense_A179T exm450290 5 36970993 [T/C] NM_133433,NM_015384 NIPBL,NIPBL EXON Missense_P209L,Missense_P209L exm450295 5 36972056 [T/G] NM_133433,NM_015384 NIPBL,NIPBL EXON Missense_S261A,Missense_S261A exm2257217 5 36975970 [A/C] NM_133433,NM_015384 NIPBL,NIPBL EXON Synonymous_R321R,Synonymous_R321R exm450307 5 36976160 [A/G] NM_133433,NM_015384 NIPBL,NIPBL EXON Missense_N384S,Missense_N384S exm450321 5 36984877 [T/G] NM_133433,NM_015384 NIPBL,NIPBL EXON Missense_G532V,Missense_G532V exm450328 5 36985089 [A/C] NM_133433,NM_015384 NIPBL,NIPBL EXON Missense_K603Q,Missense_K603Q exm450330 5 36985115 [T/A] NM_133433,NM_015384 NIPBL,NIPBL EXON Missense_S611R,Missense_S611R exm450333 5 36985173 [T/G] NM_133433,NM_015384 NIPBL,NIPBL EXON Missense_V631L,Missense_V631L exm450336 5 36985247 [T/G] NM_133433,NM_015384 NIPBL,NIPBL EXON Missense_E655D,Missense_E655D exm450337 5 36985267 [A/G] NM_133433,NM_015384 NIPBL,NIPBL EXON Missense_K662R,Missense_K662R exm450340 5 36985303 [A/G] NM_133433,NM_015384 NIPBL,NIPBL EXON Missense_N674S,Missense_N674S exm450347 5 36985501 [A/G] NM_133433,NM_015384 NIPBL,NIPBL EXON Missense_G740D,Missense_G740D exm450350 5 36985576 [A/G] NM_133433,NM_015384 NIPBL,NIPBL EXON Missense_R765K,Missense_R765K exm450356 5 36985729 [A/G] NM_133433,NM_015384 NIPBL,NIPBL EXON Missense_R816H,Missense_R816H exm450366 5 36985885 [A/G] NM_133433,NM_015384 NIPBL,NIPBL EXON Missense_R868Q,Missense_R868Q exm450367 5 36985888 [A/G] NM_133433,NM_015384 NIPBL,NIPBL EXON Missense_K869R,Missense_K869R exm450373 5 36986050 [T/G] NM_133433,NM_015384 NIPBL,NIPBL EXON Missense_G923V,Missense_G923V exm450379 5 36986185 [A/G] NM_133433,NM_015384 NIPBL,NIPBL EXON Missense_N968S,Missense_N968S exm450384 5 36986331 [A/C] NM_133433,NM_015384 NIPBL,NIPBL EXON Missense_I1017L,Missense_I1017L exm450492 5 37061067 [T/A] NM_133433,NM_015384 NIPBL,NIPBL EXON Missense_N2603Y,Missense_N2603Y exm450511 5 37108520 [T/C] NM_023073 C5orf42 EXON Missense_G3098R exm450519 5 37115116 [T/C] NM_023073 C5orf42 EXON Missense_G3062R exm450537 5 37122533 [T/C] NM_023073 C5orf42 EXON Missense_R2952G exm450545 5 37125346 [T/C] NM_023073 C5orf42 EXON Synonymous_P2932P exm450553 5 37138835 [T/C] NM_023073 C5orf42 EXON Missense_M2873V exm450556 5 37138903 [T/C] NM_023073 C5orf42 EXON Missense_D2850G exm450557 5 37138936 [A/G] NM_023073 C5orf42 EXON Missense_P2839L exm450575 5 37142570 [A/G] NM_023073 C5orf42 EXON Missense_T2771I exm450576 5 37142583 [G/C] NM_023073 C5orf42 Silent exm450583 5 37153871 [T/G] NM_023073 C5orf42 EXON Missense_P2728T exm450587 5 37153928 [T/C] NM_023073 C5orf42 EXON Missense_E2709K exm450594 5 37154075 [A/G] NM_023073 C5orf42 EXON Nonsense_R2660X exm2099813 5 37157868 [A/G] NM_023073 C5orf42 EXON Nonsense_Q2621X exm450603 5 37157900 [A/T] NM_023073 C5orf42 EXON Missense_E2610V exm450609 5 37158363 [A/G] NM_023073 C5orf42 EXON Missense_P2592L exm450613 5 37162641 [A/G] NM_023073 C5orf42 EXON Missense_A2539V exm450623 5 37165766 [T/C] NM_023073 C5orf42 EXON Missense_R2470G exm450643 5 37169221 [A/G] NM_023073 C5orf42 EXON Missense_T2302M exm450657 5 37170162 [T/C] NM_023073 C5orf42 EXON Missense_N2148S exm450658 5 37170178 [T/C] NM_023073 C5orf42 EXON Missense_I2143V exm450663 5 37170277 [T/C] NM_023073 C5orf42 EXON Missense_N2110D exm450672 5 37173930 [A/C] NM_023073 C5orf42 EXON Missense_F2033C exm450691 5 37180978 [A/G] NM_023073 C5orf42 EXON Missense_S1851P exm450693 5 37181017 [T/C] NM_023073 C5orf42 EXON Missense_T1838A exm450695 5 37181082 [T/C] NM_023073 C5orf42 EXON Missense_C1816Y exm450696 5 37182862 [T/C] NM_023073 C5orf42 EXON Synonymous_K1807K exm450697 5 37182902 [A/G] NM_023073 C5orf42 EXON Missense_P1794L exm450700 5 37182954 [T/C] NM_023073 C5orf42 EXON Missense_V1777I exm450703 5 37182969 [T/C] NM_023073 C5orf42 EXON Missense_S1772G exm450718 5 37183490 [T/G] NM_023073 C5orf42 EXON Missense_T1598K exm450724 5 37183766 [T/C] NM_023073 C5orf42 EXON Missense_H1506R exm450729 5 37184968 [G/C] NM_023073 C5orf42 EXON Missense_S1468C exm450730 5 37184983 [A/G] NM_023073 C5orf42 EXON Missense_T1463I exm450735 5 37185061 [A/G] NM_023073 C5orf42 EXON Missense_I1437T exm450764 5 37196028 [T/C] NM_023073 C5orf42 EXON Missense_G1248D exm2274069 5 37227042 [A/G] NM_023073 C5orf42 EXON Missense_T552M exm2264118 5 37239240 [A/C] NM_023073 C5orf42 Silent exm450833 5 37245935 [T/C] NM_023073 C5orf42 EXON Missense_V32I exm450837 5 37292081 [C/G] NM_153485,NM_004298 NUP155,NUP155 EXON Missense_S1366C,Missense_S1307C exm450840 5 37292140 [T/C] NM_153485,NM_004298 NUP155,NUP155 EXON Synonymous_R1346R,Synonymous_R1287R exm450850 5 37294496 [T/C] NM_153485,NM_004298 NUP155,NUP155 EXON Missense_M1289V,Missense_M1230V exm450870 5 37303392 [T/C] NM_153485,NM_004298 NUP155,NUP155 EXON Missense_R1096H,Missense_R1037H exm450871 5 37303401 [T/C] NM_153485,NM_004298 NUP155,NUP155 EXON Missense_N1093S,Missense_N1034S exm450882 5 37305238 [A/G] NM_153485,NM_004298 NUP155,NUP155 EXON Missense_P993L,Missense_P934L exm2242459 5 37307508 [C/G] NM_153485,NM_004298 NUP155,NUP155 EXON Missense_L932V,Missense_L873V exm450895 5 37309293 [T/G] NM_153485,NM_004298 NUP155,NUP155 EXON Missense_K902T,Missense_K843T exm450896 5 37309350 [T/C] NM_153485,NM_004298 NUP155,NUP155 EXON Missense_R883H,Missense_R824H exm450906 5 37310740 [C/G] NM_153485,NM_004298 NUP155,NUP155 EXON Missense_D848H,Missense_D789H exm450911 5 37314379 [T/C] NM_153485,NM_004298 NUP155,NUP155 EXON Missense_R786Q,Missense_R727Q exm450916 5 37318135 [T/C] NM_153485,NM_004298 NUP155,NUP155 EXON Missense_G754R,Missense_G695R exm450931 5 37328495 [T/C] NM_153485,NM_004298 NUP155,NUP155 EXON Missense_Y614C,Missense_Y555C exm450957 5 37337963 [T/C] NM_153485,NM_004298 NUP155,NUP155 EXON Missense_N435S,Missense_N376S exm450958 5 37337981 [A/T] NM_153485,NM_004298 NUP155,NUP155 EXON Missense_D429V,Missense_D370V exm450962 5 37341234 [T/C] NM_153485,NM_004298 NUP155,NUP155 EXON Missense_V402M,Missense_V343M exm450992 5 37352929 [T/C] NM_153485,NM_004298 NUP155,NUP155 EXON Missense_I156V,Missense_I97V exm450999 5 37364475 [T/C] NM_153485,NM_004298 NUP155,NUP155 EXON Missense_V57I,Silent exm451003 5 37371036 [A/G] NM_153485 NUP155 EXON Missense_S15F exm451022 5 37381773 [A/G] NM_018034 WDR70 EXON Missense_S54N exm451049 5 37605177 [T/C] NM_018034 WDR70 EXON Missense_T310M exm451060 5 37697814 [A/G] NM_018034 WDR70 EXON Missense_V384M exm451061 5 37697827 [A/G] NM_018034 WDR70 EXON Missense_Y388C exm2266072 5 37751724 [A/G] NM_018034 WDR70 Silent exm-rs2886725 5 37770836 [A/G] exm451096 5 37815756 [G/C] NM_001190469,NM_000514,NM_001190468,NM_199231 GDNF,GDNF,GDNF,GDNF EXON Missense_I202M,Missense_I211M,Missense_I228M,Missense_I185M exm451102 5 37815941 [T/C] NM_001190469,NM_000514,NM_001190468,NM_199231 GDNF,GDNF,GDNF,GDNF EXON Missense_D141N,Missense_D150N,Missense_D167N,Missense_D124N exm451109 5 37816079 [T/C] NM_001190469,NM_000514,NM_001190468,NM_199231 GDNF,GDNF,GDNF,GDNF EXON Missense_R95G,Missense_R104G,Missense_R121G,Missense_R78G exm451112 5 37816097 [A/C] NM_001190469,NM_000514,NM_001190468,NM_199231 GDNF,GDNF,GDNF,GDNF EXON Missense_A89S,Missense_A98S,Missense_A115S,Missense_A72S exm451113 5 37816112 [A/G] NM_001190469,NM_000514,NM_001190468,NM_199231 GDNF,GDNF,GDNF,GDNF EXON Missense_R84W,Missense_R93W,Missense_R110W,Missense_R67W exm-rs270545 5 38051593 [A/G] exm2266073 5 38220774 [A/G] exm2257221 5 38264735 [A/G] NM_001205301,NM_152403 EGFLAM,EGFLAM Silent,Silent exm451132 5 38338807 [A/G] NM_001205301,NM_152403 EGFLAM,EGFLAM EXON Missense_Y72C,Missense_Y72C exm451134 5 38338821 [A/G] NM_001205301,NM_152403 EGFLAM,EGFLAM EXON Missense_A77T,Missense_A77T exm451135 5 38338843 [A/G] NM_001205301,NM_152403 EGFLAM,EGFLAM EXON Missense_Q84R,Missense_Q84R exm451138 5 38338854 [A/G] NM_001205301,NM_152403 EGFLAM,EGFLAM EXON Missense_V88M,Missense_V88M exm2099965 5 38338879 [T/C] NM_001205301,NM_152403 EGFLAM,EGFLAM EXON Missense_T96I,Missense_T96I exm451141 5 38338882 [T/C] NM_001205301,NM_152403 EGFLAM,EGFLAM EXON Missense_T97M,Missense_T97M exm451147 5 38350643 [A/G] NM_001205301,NM_152403 EGFLAM,EGFLAM EXON Missense_R111H,Missense_R111H exm451161 5 38370408 [A/G] NM_001205301,NM_152403 EGFLAM,EGFLAM EXON Missense_D186N,Missense_D186N exm451162 5 38370420 [T/A] NM_001205301,NM_152403 EGFLAM,EGFLAM EXON Missense_T190S,Missense_T190S exm451172 5 38370537 [T/C] NM_001205301,NM_152403 EGFLAM,EGFLAM EXON Missense_W229R,Missense_W229R exm451178 5 38406251 [T/C] NM_001205301,NM_152403,NM_182798 EGFLAM,EGFLAM,EGFLAM EXON Missense_R246C,Missense_R246C,Missense_R12C exm451180 5 38406275 [A/G] NM_001205301,NM_152403,NM_182798 EGFLAM,EGFLAM,EGFLAM EXON Missense_D254N,Missense_D254N,Missense_D20N exm451190 5 38407060 [T/C] NM_001205301,NM_152403,NM_182798 EGFLAM,EGFLAM,EGFLAM EXON Missense_T320M,Missense_T320M,Missense_T86M exm451200 5 38407230 [A/G] NM_001205301,NM_152403,NM_182798 EGFLAM,EGFLAM,EGFLAM EXON Missense_G377S,Missense_G377S,Missense_G143S exm451205 5 38407981 [T/G] NM_001205301,NM_152403,NM_182798 EGFLAM,EGFLAM,EGFLAM EXON Missense_A408S,Missense_A408S,Missense_A174S exm451206 5 38409107 [T/C] NM_001205301,NM_152403,NM_182798 EGFLAM,EGFLAM,EGFLAM EXON Missense_A417V,Missense_A417V,Missense_A183V exm451209 5 38409148 [A/G] NM_001205301,NM_152403,NM_182798 EGFLAM,EGFLAM,EGFLAM EXON Missense_E431K,Missense_E431K,Missense_E197K exm451212 5 38409188 [A/G] NM_001205301,NM_152403,NM_182798 EGFLAM,EGFLAM,EGFLAM EXON Missense_R444Q,Missense_R444Q,Missense_R210Q exm451217 5 38412616 [A/G] NM_001205301,NM_152403,NM_182798 EGFLAM,EGFLAM,EGFLAM EXON Missense_G454R,Missense_G454R,Missense_G220R exm451222 5 38412674 [T/C] NM_001205301,NM_152403,NM_182798 EGFLAM,EGFLAM,EGFLAM EXON Missense_T473M,Missense_T473M,Missense_T239M exm451227 5 38418259 [A/G] NM_001205301,NM_152403,NM_182798 EGFLAM,EGFLAM,EGFLAM EXON Missense_R529Q,Missense_R529Q,Missense_R295Q exm451230 5 38418311 [A/C] NM_001205301,NM_152403,NM_182798 EGFLAM,EGFLAM,EGFLAM EXON Missense_D546E,Missense_D546E,Missense_D312E exm451231 5 38425110 [A/C] NM_001205301,NM_152403,NM_182798 EGFLAM,EGFLAM,EGFLAM EXON Missense_H576N,Missense_H576N,Missense_H342N exm451236 5 38425155 [T/C] NM_001205301,NM_152403,NM_182798 EGFLAM,EGFLAM,EGFLAM EXON Missense_L591F,Missense_L591F,Missense_L357F exm451248 5 38427311 [A/G] NM_001205301,NM_152403,NM_182798 EGFLAM,EGFLAM,EGFLAM EXON Missense_V671M,Missense_V671M,Missense_V437M exm451249 5 38427316 [T/G] NM_001205301,NM_152403,NM_182798 EGFLAM,EGFLAM,EGFLAM EXON Missense_E672D,Missense_E672D,Missense_E438D exm451250 5 38427321 [A/G] NM_001205301,NM_152403,NM_182798 EGFLAM,EGFLAM,EGFLAM EXON Missense_R674H,Missense_R674H,Missense_R440H exm451261 5 38435305 [A/G] NM_001205301,NM_152403,NM_182798 EGFLAM,EGFLAM,EGFLAM EXON Missense_V745M,Missense_V745M,Missense_V511M exm451263 5 38435318 [T/C] NM_001205301,NM_152403,NM_182798 EGFLAM,EGFLAM,EGFLAM EXON Missense_S749L,Missense_S749L,Missense_S515L exm451267 5 38438393 [A/G] NM_001205301,NM_152403,NM_182798 EGFLAM,EGFLAM,EGFLAM EXON Missense_R767Q,Missense_R767Q,Missense_R533Q exm451285 5 38448454 [A/C] NM_001205301,NM_152403,NM_182798,NM_182801 EGFLAM,EGFLAM,EGFLAM,EGFLAM EXON Missense_T847K,Missense_T839K,Missense_T605K,Silent exm451289 5 38451503 [T/C] NM_001205301,NM_152403,NM_182798,NM_182801 EGFLAM,EGFLAM,EGFLAM,EGFLAM EXON Missense_M885T,Missense_M877T,Missense_M643T,Missense_M20T exm451291 5 38451538 [T/C] NM_001205301,NM_152403,NM_182798,NM_182801 EGFLAM,EGFLAM,EGFLAM,EGFLAM EXON Missense_R897W,Missense_R889W,Missense_R655W,Missense_R32W exm2257222 5 38458464 [T/C] NM_001205301,NM_152403,NM_182798,NM_182801 EGFLAM,EGFLAM,EGFLAM,EGFLAM EXON Synonymous_N921N,Synonymous_N913N,Synonymous_N679N,Synonymous_N56N exm451298 5 38458480 [T/C] NM_001205301,NM_152403,NM_182798,NM_182801 EGFLAM,EGFLAM,EGFLAM,EGFLAM EXON Nonsense_R927X,Nonsense_R919X,Nonsense_R685X,Nonsense_R62X exm451299 5 38458481 [A/G] NM_001205301,NM_152403,NM_182798,NM_182801 EGFLAM,EGFLAM,EGFLAM,EGFLAM EXON Missense_R927Q,Missense_R919Q,Missense_R685Q,Missense_R62Q exm451301 5 38458490 [T/C] NM_001205301,NM_152403,NM_182798,NM_182801 EGFLAM,EGFLAM,EGFLAM,EGFLAM EXON Missense_A930V,Missense_A922V,Missense_A688V,Missense_A65V exm451303 5 38463011 [T/G] NM_001205301,NM_152403,NM_182798,NM_182801 EGFLAM,EGFLAM,EGFLAM,EGFLAM EXON Missense_D933Y,Missense_D925Y,Missense_D691Y,Missense_D68Y exm451305 5 38463042 [A/G] NM_001205301,NM_152403,NM_182798,NM_182801 EGFLAM,EGFLAM,EGFLAM,EGFLAM EXON Missense_D943G,Missense_D935G,Missense_D701G,Missense_D78G exm2100031 5 38464081 [A/C] NM_001205301,NM_152403,NM_182798,NM_182801 EGFLAM,EGFLAM,EGFLAM,EGFLAM EXON Missense_A1016D,Missense_A1008D,Missense_A774D,Missense_A151D exm2100034 5 38481703 [A/G] NM_002310,NM_001127671 LIFR,LIFR EXON Synonymous_N1096N,Synonymous_N1096N exm451318 5 38481770 [T/C] NM_002310,NM_001127671 LIFR,LIFR EXON Missense_D1074G,Missense_D1074G exm451342 5 38484890 [A/G] NM_002310,NM_001127671 LIFR,LIFR EXON Missense_R860W,Missense_R860W exm451347 5 38485971 [T/C] NM_002310,NM_001127671 LIFR,LIFR EXON Missense_D816G,Missense_D816G exm451351 5 38486008 [T/C] NM_002310,NM_001127671 LIFR,LIFR EXON Missense_K804E,Missense_K804E exm451353 5 38486065 [T/C] NM_002310,NM_001127671 LIFR,LIFR EXON Missense_V785I,Missense_V785I exm451356 5 38489213 [T/C] NM_002310,NM_001127671 LIFR,LIFR EXON Missense_R768G,Missense_R768G exm451369 5 38493782 [A/G] NM_002310,NM_001127671 LIFR,LIFR EXON Missense_S664L,Missense_S664L exm2100053 5 38493801 [T/C] NM_002310,NM_001127671 LIFR,LIFR EXON Missense_V658I,Missense_V658I exm451374 5 38493858 [A/T] NM_002310,NM_001127671 LIFR,LIFR EXON Missense_M639L,Missense_M639L exm451375 5 38493874 [T/C] NM_002310,NM_001127671 LIFR,LIFR EXON Missense_I633M,Missense_I633M exm451379 5 38496563 [T/G] NM_002310,NM_001127671 LIFR,LIFR EXON Missense_D602E,Missense_D602E exm451380 5 38496637 [T/C] NM_002310,NM_001127671 LIFR,LIFR EXON Missense_D578N,Missense_D578N exm451398 5 38506031 [T/C] NM_002310,NM_001127671 LIFR,LIFR EXON Missense_I423V,Missense_I423V exm451411 5 38510595 [T/C] NM_002310,NM_001127671 LIFR,LIFR EXON Missense_N321S,Missense_N321S exm2257223 5 38510768 [T/C] NM_002310,NM_001127671 LIFR,LIFR EXON Synonymous_V263V,Synonymous_V263V exm451420 5 38511958 [T/C] NM_002310,NM_001127671 LIFR,LIFR EXON Missense_I224V,Missense_I224V exm451422 5 38512002 [A/G] NM_002310,NM_001127671 LIFR,LIFR EXON Missense_M209T,Missense_M209T exm451426 5 38523529 [T/C] NM_002310,NM_001127671 LIFR,LIFR EXON Missense_V185I,Missense_V185I exm451427 5 38523579 [A/G] NM_002310,NM_001127671 LIFR,LIFR EXON Missense_S168L,Missense_S168L exm451439 5 38527290 [T/C] NM_002310,NM_001127671 LIFR,LIFR EXON Missense_T122A,Missense_T122A exm451440 5 38527308 [A/G] NM_002310,NM_001127671 LIFR,LIFR EXON Missense_H116Y,Missense_H116Y exm451441 5 38527326 [T/C] NM_002310,NM_001127671 LIFR,LIFR EXON Missense_I110V,Missense_I110V exm451444 5 38527391 [T/C] NM_002310,NM_001127671 LIFR,LIFR EXON Missense_R88H,Missense_R88H exm2100074 5 38527396 [A/C] NM_002310,NM_001127671 LIFR,LIFR EXON Missense_R86S,Missense_R86S exm451445 5 38528838 [T/C] NM_002310,NM_001127671 LIFR,LIFR EXON Missense_I83V,Missense_I83V exm451456 5 38530704 [T/C] NM_002310,NM_001127671 LIFR,LIFR EXON Missense_D16N,Missense_D16N exm2270038 5 38842959 [T/C] exm2100109 5 38869210 [A/C] NM_001168355,NM_003999 OSMR,OSMR EXON Missense_Q22K,Missense_Q22K exm451462 5 38876315 [A/G] NM_001168355,NM_003999 OSMR,OSMR EXON Missense_R29H,Missense_R29H exm451471 5 38876437 [T/C] NM_001168355,NM_003999 OSMR,OSMR EXON Nonsense_Q70X,Nonsense_Q70X exm451473 5 38881840 [A/G] NM_001168355,NM_003999 OSMR,OSMR EXON Missense_N131S,Missense_N131S exm451478 5 38883961 [A/G] NM_001168355,NM_003999 OSMR,OSMR EXON Missense_V151I,Missense_V151I exm451481 5 38884015 [A/G] NM_001168355,NM_003999 OSMR,OSMR EXON Missense_V169I,Missense_V169I exm451483 5 38884071 [T/G] NM_001168355,NM_003999 OSMR,OSMR EXON Missense_H187Q,Missense_H187Q exm451485 5 38884114 [A/T] NM_001168355,NM_003999 OSMR,OSMR EXON Missense_S202C,Missense_S202C exm451487 5 38884151 [A/G] NM_001168355,NM_003999 OSMR,OSMR EXON Missense_Y214C,Missense_Y214C exm451496 5 38885532 [A/C] NM_001168355,NM_003999 OSMR,OSMR EXON Missense_D262A,Missense_D262A exm451499 5 38886290 [A/G] NM_001168355,NM_003999 OSMR,OSMR EXON Missense_R330Q,Missense_R330Q exm451502 5 38904082 [T/C] NM_003999 OSMR EXON Missense_Y364H exm451506 5 38904482 [A/G] NM_003999 OSMR EXON Missense_E388K exm451515 5 38917669 [A/T] NM_003999 OSMR EXON Missense_V436D exm451518 5 38919095 [A/G] NM_003999 OSMR EXON Missense_V506I exm2100132 5 38919117 [A/G] NM_003999 OSMR EXON Missense_G513D exm451523 5 38919150 [G/C] NM_003999 OSMR EXON Missense_A524G exm451525 5 38919158 [A/G] NM_003999 OSMR EXON Missense_E527K exm451530 5 38921788 [A/G] NM_003999 OSMR EXON Missense_D553N exm451534 5 38921864 [A/G] NM_003999 OSMR EXON Missense_G578D exm451536 5 38923272 [T/C] NM_003999 OSMR EXON Nonsense_R596X exm451537 5 38923273 [A/G] NM_003999 OSMR EXON Missense_R596Q exm451539 5 38924525 [T/C] NM_003999 OSMR EXON Synonymous_A624A exm451540 5 38924534 [A/C] NM_003999 OSMR EXON Missense_D627E exm451544 5 38924638 [T/C] NM_003999 OSMR EXON Missense_V662A exm451545 5 38924656 [T/C] NM_003999 OSMR EXON Missense_A668V exm451564 5 38933005 [C/G] NM_003999 OSMR EXON Missense_S800T exm451567 5 38933100 [T/G] NM_003999 OSMR EXON Missense_L832V exm451570 5 38933253 [A/G] NM_003999 OSMR EXON Missense_M883V exm451578 5 38933389 [A/C] NM_003999 OSMR EXON Missense_D928A exm451579 5 38933412 [T/C] NM_003999 OSMR EXON Missense_P936S exm451580 5 38933455 [A/C] NM_003999 OSMR EXON Missense_A950E exm451581 5 38933467 [A/G] NM_003999 OSMR EXON Missense_R954H exm451583 5 38933485 [T/C] NM_003999 OSMR EXON Missense_P960L exm451591 5 38942449 [A/G] NM_152756 RICTOR EXON Missense_T1695I exm451598 5 38942984 [A/G] NM_152756 RICTOR EXON Missense_P1668L exm451611 5 38946608 [T/C] NM_152756 RICTOR EXON Missense_D1454G exm451624 5 38950028 [T/C] NM_152756 RICTOR EXON Missense_I1308V exm451628 5 38950153 [T/G] NM_152756 RICTOR EXON Missense_T1266K exm451635 5 38950405 [T/C] NM_152756 RICTOR EXON Missense_D1182G exm451647 5 38950729 [T/C] NM_152756 RICTOR EXON Missense_D1074G exm451648 5 38950756 [T/C] NM_152756 RICTOR EXON Missense_N1065S exm2257225 5 38950761 [A/G] NM_152756 RICTOR EXON Synonymous_D1063D exm451649 5 38950761 [A/G] NM_152756 RICTOR EXON Synonymous_D1063D exm451653 5 38952340 [T/C] NM_152756 RICTOR EXON Missense_T1029A exm451657 5 38952459 [T/C] NM_152756 RICTOR EXON Missense_N989S exm451662 5 38952527 [T/C] NM_152756 RICTOR EXON Synonymous_G966G exm451665 5 38953162 [T/C] NM_152756 RICTOR EXON Missense_N941S exm451667 5 38953624 [T/C] NM_152756 RICTOR EXON Missense_R910H exm451668 5 38953625 [A/G] NM_152756 RICTOR EXON Missense_R910C exm451670 5 38953634 [A/G] NM_152756 RICTOR EXON Missense_R907C exm451674 5 38954935 [T/C] NM_152756 RICTOR EXON Missense_I880V exm451676 5 38954955 [T/C] NM_152756 RICTOR EXON Missense_R873H exm451684 5 38955796 [A/G] NM_152756 RICTOR EXON Missense_S837F exm451698 5 38959337 [C/G] NM_152756 RICTOR EXON Missense_A713G exm2257226 5 38959420 [A/G] NM_152756 RICTOR EXON Synonymous_L685L exm451709 5 38962438 [T/C] NM_152756 RICTOR EXON Missense_Y565C exm451720 5 38964930 [A/G] NM_152756 RICTOR EXON Missense_M455T exm451721 5 38966790 [A/G] NM_152756 RICTOR EXON Missense_H418Y exm451777 5 39119027 [T/C] NM_001243093,NM_199335,NM_001465 FYB,FYB,FYB EXON Missense_I794V,Missense_I738V,Missense_I784V exm451786 5 39119723 [A/C] NM_001243093,NM_199335,NM_001465 FYB,FYB,FYB EXON Missense_V728F,Missense_V672F,Missense_V718F exm451790 5 39126145 [T/C] NM_001243093,NM_199335,NM_001465 FYB,FYB,FYB EXON Missense_R677Q,Silent,Missense_R667Q exm451791 5 39126202 [G/C] NM_001243093,NM_199335,NM_001465 FYB,FYB,FYB EXON Missense_W658S,Silent,Missense_W648S exm451793 5 39126205 [A/G] NM_001243093,NM_199335,NM_001465 FYB,FYB,FYB EXON Missense_T657M,Silent,Missense_T647M exm2100251 5 39127844 [A/C] NM_001243093,NM_199335,NM_001465 FYB,FYB,FYB EXON Missense_G646C,Missense_G636C,Missense_G636C exm451810 5 39141224 [A/T] NM_001243093,NM_199335,NM_001465 FYB,FYB,FYB EXON Missense_N448Y,Missense_N438Y,Missense_N438Y exm451815 5 39153562 [A/G] NM_001243093,NM_199335,NM_001465 FYB,FYB,FYB EXON Missense_P437L,Missense_P427L,Missense_P427L exm451817 5 39153685 [A/G] NM_001243093,NM_199335,NM_001465 FYB,FYB,FYB EXON Missense_S396F,Missense_S386F,Missense_S386F exm451818 5 39153695 [G/C] NM_001243093,NM_199335,NM_001465 FYB,FYB,FYB EXON Missense_G393R,Missense_G383R,Missense_G383R exm2265933 5 39198142 [A/G] NM_001243093,NM_199335,NM_001465 FYB,FYB,FYB Silent,Silent,Silent exm2275793 5 39201957 [A/G] NM_001243093,NM_199335,NM_001465 FYB,FYB,FYB EXON Missense_T379M,Missense_T369M,Missense_T369M exm451825 5 39202068 [T/C] NM_001243093,NM_199335,NM_001465 FYB,FYB,FYB EXON Missense_K342R,Missense_K332R,Missense_K332R exm451826 5 39202081 [T/G] NM_001243093,NM_199335,NM_001465 FYB,FYB,FYB EXON Missense_Q338K,Missense_Q328K,Missense_Q328K exm451827 5 39202118 [A/C] NM_001243093,NM_199335,NM_001465 FYB,FYB,FYB EXON Missense_K325N,Missense_K315N,Missense_K315N exm451843 5 39202653 [A/G] NM_001243093,NM_199335,NM_001465 FYB,FYB,FYB EXON Missense_P147L,Missense_P137L,Missense_P137L exm451846 5 39202689 [T/G] NM_001243093,NM_199335,NM_001465 FYB,FYB,FYB EXON Missense_S135Y,Missense_S125Y,Missense_S125Y exm451847 5 39202711 [T/C] NM_001243093,NM_199335,NM_001465 FYB,FYB,FYB EXON Missense_I128V,Missense_I118V,Missense_I118V exm451849 5 39202773 [A/C] NM_001243093,NM_199335,NM_001465 FYB,FYB,FYB EXON Missense_S107I,Missense_S97I,Missense_S97I exm451854 5 39202911 [A/G] NM_001243093,NM_199335,NM_001465 FYB,FYB,FYB EXON Missense_P61L,Missense_P51L,Missense_P51L exm451857 5 39202924 [A/G] NM_001243093,NM_199335,NM_001465 FYB,FYB,FYB EXON Missense_P57S,Missense_P47S,Missense_P47S exm2270199 5 39220055 [T/C] NM_001243093 FYB Silent exm451866 5 39285311 [T/C] NM_001737 C9 EXON Missense_N557S exm451876 5 39288885 [T/C] NM_001737 C9 EXON Missense_A529T exm451881 5 39289019 [T/A] NM_001737 C9 EXON Missense_M484K exm451883 5 39289043 [A/G] NM_001737 C9 EXON Missense_I476T exm451891 5 39306855 [G/C] NM_001737 C9 EXON Nonsense_S427X exm451892 5 39306856 [T/A] NM_001737 C9 EXON Missense_S427T exm451894 5 39308330 [A/G] NM_001737 C9 Silent exm451895 5 39308332 [A/C] NM_001737 C9 EXON Missense_V414L exm451904 5 39311336 [A/T] NM_001737 C9 EXON Missense_F338L exm451906 5 39311376 [A/G] NM_001737 C9 EXON Missense_A325V exm451907 5 39311416 [T/C] NM_001737 C9 EXON Missense_D312N exm451908 5 39311421 [T/C] NM_001737 C9 EXON Missense_N310S exm451912 5 39315912 [T/C] NM_001737 C9 EXON Missense_T279A exm451915 5 39316095 [T/C] NM_001737 C9 EXON Missense_E218K exm451919 5 39331786 [T/C] NM_001737 C9 EXON Missense_I203V exm451920 5 39331813 [A/G] NM_001737 C9 EXON Nonsense_R194X exm451924 5 39331894 [A/G] NM_001737 C9 EXON Missense_P167S exm451929 5 39341264 [A/G] NM_001737 C9 EXON Nonsense_R154X exm451931 5 39341303 [T/G] NM_001737 C9 EXON Missense_P141T exm451934 5 39341309 [A/G] NM_001737 C9 EXON Missense_R139C exm451937 5 39341345 [A/C] NM_001737 C9 EXON Missense_D127Y exm451938 5 39341348 [T/C] NM_001737 C9 EXON Missense_G126R exm451940 5 39341369 [A/C] NM_001737 C9 EXON Missense_C119G exm451941 5 39341372 [A/G] NM_001737 C9 EXON Missense_R118W exm2100304 5 39341378 [A/G] NM_001737 C9 EXON Nonsense_R116X exm451944 5 39341682 [T/C] NM_001737 C9 EXON Missense_G102R exm451946 5 39341730 [A/G] NM_001737 C9 EXON Nonsense_R86X exm451948 5 39341748 [T/C] NM_001737 C9 EXON Missense_D80N exm451956 5 39342243 [T/A] NM_001737 C9 EXON Missense_M45L exm451960 5 39364509 [T/G] NM_001737 C9 EXON Missense_T20P exm451961 5 39364554 [A/G] NM_001737 C9 EXON Missense_R5W exm451972 5 39376173 [T/G] NM_001343,NM_001244871 DAB2,DAB2 EXON Missense_P725T,Missense_P704T exm451976 5 39376787 [A/T] NM_001343,NM_001244871 DAB2,DAB2 EXON Missense_D701V,Missense_D680V exm451982 5 39376887 [T/C] NM_001343,NM_001244871 DAB2,DAB2 EXON Missense_A668T,Missense_A647T exm451983 5 39376959 [T/C] NM_001343,NM_001244871 DAB2,DAB2 EXON Missense_G644R,Missense_G623R exm451986 5 39376988 [T/C] NM_001343,NM_001244871 DAB2,DAB2 EXON Missense_S634N,Missense_S613N exm451988 5 39376998 [T/C] NM_001343,NM_001244871 DAB2,DAB2 EXON Missense_D631N,Missense_D610N exm451989 5 39377130 [T/C] NM_001343,NM_001244871 DAB2,DAB2 EXON Missense_T587A,Missense_T566A exm451990 5 39377132 [A/G] NM_001343,NM_001244871 DAB2,DAB2 EXON Missense_T586I,Missense_T565I exm451994 5 39377259 [T/C] NM_001343,NM_001244871 DAB2,DAB2 EXON Missense_V544I,Missense_V523I exm452000 5 39377320 [G/C] NM_001343,NM_001244871 DAB2,DAB2 EXON Missense_Q523H,Missense_Q502H exm452003 5 39377375 [A/G] NM_001343,NM_001244871 DAB2,DAB2 EXON Missense_T505I,Missense_T484I exm452007 5 39381577 [T/C] NM_001343,NM_001244871 DAB2,DAB2 EXON Missense_V495M,Missense_V474M exm452008 5 39381579 [C/G] NM_001343,NM_001244871 DAB2,DAB2 EXON Missense_P494R,Missense_P473R exm452014 5 39382773 [T/C] NM_001343,NM_001244871 DAB2,DAB2 EXON Missense_I430V,Missense_I409V exm452017 5 39382827 [T/C] NM_001343,NM_001244871 DAB2,DAB2 EXON Missense_V412I,Missense_V391I exm452021 5 39382923 [G/C] NM_001343,NM_001244871 DAB2,DAB2 EXON Missense_G380R,Missense_G359R exm452028 5 39383058 [A/G] NM_001343,NM_001244871 DAB2,DAB2 EXON Missense_P335S,Missense_P314S exm2257228 5 39383173 [A/G] NM_001343,NM_001244871 DAB2,DAB2 EXON Synonymous_R296R,Synonymous_R275R exm452034 5 39383175 [A/G] NM_001343,NM_001244871 DAB2,DAB2 EXON Missense_R296C,Missense_R275C exm452046 5 39388465 [A/T] NM_001343,NM_001244871 DAB2,DAB2 EXON Missense_V210D,Silent exm452047 5 39388901 [T/C] NM_001343,NM_001244871 DAB2,DAB2 EXON Synonymous_S208S,Synonymous_S208S exm2257229 5 39394369 [A/G] NM_001343,NM_001244871 DAB2,DAB2 EXON Synonymous_A18A,Synonymous_A18A exm452079 5 39394413 [T/C] NM_001343,NM_001244871 DAB2,DAB2 EXON Missense_E4K,Missense_E4K exm-rs11959928 5 39397132 [T/A] NM_001343,NM_001244871 DAB2,DAB2 Silent,Silent exm2265934 5 39929770 [A/G] exm2270039 5 40049919 [T/C] exm-rs2548145 5 40134777 [A/G] exm-rs353372 5 40226919 [T/C] exm2266074 5 40286410 [A/G] exm-rs4613763 5 40392728 [T/C] exm-rs17234657 5 40401509 [T/G] exm-rs11742570 5 40410584 [T/C] exm-rs6451493 5 40410935 [T/G] exm-rs1992660 5 40415067 [T/C] exm-rs6896969 5 40424426 [A/C] exm-rs1373692 5 40431183 [A/C] exm-rs9292777 5 40437948 [T/C] exm-rs10440635 5 40490790 [A/G] exm452105 5 40691893 [A/G] NM_000958 PTGER4 EXON Missense_V294I exm452107 5 40691911 [T/C] NM_000958 PTGER4 EXON Missense_P300S exm2257233 5 40691949 [A/G] NM_000958 PTGER4 EXON Synonymous_L312L exm452110 5 40691950 [A/C] NM_000958 PTGER4 EXON Missense_Q313K exm452119 5 40692272 [A/G] NM_000958 PTGER4 EXON Missense_G420D exm452120 5 40692317 [A/G] NM_000958 PTGER4 EXON Missense_R435Q exm452135 5 40716359 [G/C] NM_012382 TTC33 EXON Nonsense_S226X exm452136 5 40716366 [T/A] NM_012382 TTC33 EXON Missense_T224S exm452143 5 40716518 [A/G] NM_012382 TTC33 EXON Missense_T173M exm452156 5 40746916 [T/A] NM_012382 TTC33 EXON Missense_L69M exm2270040 5 40755568 [T/C] NM_012382 TTC33 Silent exm2100377 5 40764876 [T/C] NM_206907,NM_006251 PRKAA1,PRKAA1 EXON Missense_K444R,Missense_K429R exm452245 5 40841512 [A/G] NM_032587 CARD6 EXON Missense_I10V exm-IND5-40877328 5 40841572 [I/D] NM_032587 CARD6 EXON exm452251 5 40841609 [A/G] NM_032587 CARD6 EXON Missense_E42G exm452257 5 40841741 [T/C] NM_032587 CARD6 EXON Missense_S86L exm452259 5 40841762 [A/G] NM_032587 CARD6 EXON Missense_R93K exm452265 5 40843298 [A/G] NM_032587 CARD6 EXON Missense_A110T exm452268 5 40843334 [A/C] NM_032587 CARD6 EXON Missense_I122L exm452273 5 40843493 [T/A] NM_032587 CARD6 EXON Missense_T175S exm452274 5 40843521 [A/G] NM_032587 CARD6 EXON Missense_G184E exm452275 5 40843524 [A/G] NM_032587 CARD6 EXON Missense_C185Y exm452277 5 40843550 [A/G] NM_032587 CARD6 EXON Missense_I194V exm452284 5 40843686 [T/C] NM_032587 CARD6 EXON Missense_V239A exm452286 5 40843735 [A/C] NM_032587 CARD6 EXON Missense_F255L exm452288 5 40843756 [T/G] NM_032587 CARD6 EXON Nonsense_Y262X exm452289 5 40843761 [A/G] NM_032587 CARD6 EXON Missense_G264E exm452290 5 40843764 [T/C] NM_032587 CARD6 EXON Missense_S265L exm452293 5 40852317 [A/G] NM_032587 CARD6 EXON Missense_M295V exm452295 5 40852371 [T/C] NM_032587 CARD6 EXON Nonsense_R313X exm452303 5 40852537 [A/G] NM_032587 CARD6 EXON Missense_R368Q exm452307 5 40852608 [T/C] NM_032587 CARD6 EXON Missense_R392C exm452311 5 40852701 [T/G] NM_032587 CARD6 EXON Missense_A423S exm452313 5 40852711 [A/T] NM_032587 CARD6 EXON Missense_D426V exm452317 5 40852836 [T/G] NM_032587 CARD6 EXON Missense_S468A exm452319 5 40852920 [T/C] NM_032587 CARD6 EXON Missense_L496F exm2100409 5 40852977 [A/G] NM_032587 CARD6 EXON Missense_D515N exm2100410 5 40852996 [T/C] NM_032587 CARD6 EXON Missense_P521L exm452321 5 40853031 [T/C] NM_032587 CARD6 EXON Missense_R533C exm452322 5 40853032 [A/G] NM_032587 CARD6 EXON Missense_R533H exm2276911 5 40853113 [T/C] NM_032587 CARD6 EXON Missense_L560S exm452326 5 40853137 [T/C] NM_032587 CARD6 EXON Missense_L568P exm452327 5 40853158 [A/C] NM_032587 CARD6 EXON Missense_A575D exm452328 5 40853160 [A/G] NM_032587 CARD6 EXON Missense_I576V exm2242486 5 40853320 [T/C] NM_032587 CARD6 EXON Missense_L629P exm452333 5 40853376 [A/G] NM_032587 CARD6 EXON Missense_A648T exm452339 5 40853487 [G/C] NM_032587 CARD6 EXON Missense_Q685E exm452342 5 40853556 [G/C] NM_032587 CARD6 EXON Missense_Q708E exm452346 5 40853616 [G/C] NM_032587 CARD6 EXON Missense_L728V exm452348 5 40853698 [A/G] NM_032587 CARD6 EXON Missense_R755H exm452360 5 40853949 [T/C] NM_032587 CARD6 EXON Missense_L839F exm452366 5 40854004 [T/C] NM_032587 CARD6 EXON Missense_S857L exm452371 5 40854228 [A/G] NM_032587 CARD6 EXON Missense_G932R exm452374 5 40854296 [C/G] NM_032587 CARD6 EXON Missense_H954Q exm2100433 5 40931237 [T/C] NM_000587 C7 EXON Missense_T45I exm452403 5 40934517 [A/G] NM_000587 C7 EXON Missense_R77G exm452413 5 40936541 [T/C] NM_000587 C7 EXON Missense_C128R exm452419 5 40945337 [A/G] NM_000587 C7 EXON Missense_N202S exm452423 5 40945397 [A/G] NM_000587 C7 EXON Missense_R222H exm452425 5 40945409 [T/G] NM_000587 C7 EXON Missense_R226I exm452426 5 40945424 [C/G] NM_000587 C7 EXON Missense_S231C exm452427 5 40945432 [A/G] NM_000587 C7 EXON Missense_S234G exm2100454 5 40945465 [A/G] NM_000587 C7 EXON Missense_G245R exm2100459 5 40950095 [A/G] NM_000587 C7 EXON Missense_N358D exm452442 5 40955530 [C/G] NM_000587 C7 EXON Missense_G379R exm452445 5 40955561 [G/C] NM_000587 C7 EXON Missense_S389T exm452451 5 40955653 [A/C] NM_000587 C7 EXON Missense_K420Q exm452458 5 40958246 [T/C] NM_000587 C7 EXON Missense_R458W exm452468 5 40959622 [A/C] NM_000587 C7 EXON Missense_R521S exm452469 5 40959623 [A/G] NM_000587 C7 EXON Missense_R521H exm2100468 5 40959667 [A/G] NM_000587 C7 EXON Missense_V536I exm452473 5 40962201 [A/G] NM_000587 C7 EXON Missense_H559R exm452478 5 40964852 [A/C] NM_000587 C7 EXON Missense_T587P exm452480 5 40964885 [A/T] NM_000587 C7 EXON Missense_T598S exm452483 5 40964945 [T/C] NM_000587 C7 EXON Missense_R618W exm452487 5 40972534 [A/G] NM_000587 C7 EXON Missense_D638N exm452493 5 40972630 [A/G] NM_000587 C7 EXON Missense_A670T exm2100483 5 40972682 [A/G] NM_000587 C7 EXON Missense_R687H exm452502 5 40979859 [T/G] NM_000587 C7 EXON Missense_R733I exm452512 5 40980013 [T/C] NM_000587 C7 Silent exm452526 5 40998245 [T/C] NM_173489 MROH2B EXON Missense_R1556H exm452528 5 40998261 [T/C] NM_173489 MROH2B Silent exm452529 5 40998713 [T/C] NM_173489 MROH2B Silent exm452536 5 40998779 [T/C] NM_173489 MROH2B EXON Missense_D1529G exm2265935 5 40998851 [A/G] NM_173489 MROH2B Silent exm2100506 5 41000334 [T/G] NM_173489 MROH2B EXON Missense_F1490L exm452544 5 41000405 [T/C] NM_173489 MROH2B EXON Missense_E1467K exm452545 5 41000787 [A/G] NM_173489 MROH2B EXON Missense_I1448T exm452550 5 41000865 [T/C] NM_173489 MROH2B EXON Nonsense_W1422X exm452552 5 41000928 [A/T] NM_173489 MROH2B EXON Missense_D1401V exm452557 5 41004558 [T/C] NM_173489 MROH2B EXON Missense_V1362I exm452558 5 41004570 [A/G] NM_173489 MROH2B EXON Missense_R1358C exm2257235 5 41005699 [T/C] NM_173489 MROH2B EXON Synonymous_Q1266Q exm452575 5 41007450 [T/C] NM_173489 MROH2B EXON Missense_S1239G exm452577 5 41007469 [A/C] NM_173489 MROH2B EXON Missense_W1232C exm452585 5 41008777 [A/G] NM_173489 MROH2B EXON Missense_T1180I exm452586 5 41008780 [A/G] NM_173489 MROH2B EXON Missense_L1179P exm452590 5 41008850 [T/C] NM_173489 MROH2B EXON Missense_T1156A exm452600 5 41010097 [T/C] NM_173489 MROH2B EXON Missense_I1074V exm2100529 5 41010109 [T/C] NM_173489 MROH2B EXON Missense_I1070V exm452602 5 41012710 [T/C] NM_173489 MROH2B EXON Missense_Q1037R exm2100536 5 41015521 [T/C] NM_173489 MROH2B EXON Missense_V982M exm452609 5 41017990 [A/G] NM_173489 MROH2B EXON Missense_A949V exm452610 5 41017996 [T/C] NM_173489 MROH2B EXON Missense_R947H exm452612 5 41018452 [T/A] NM_173489 MROH2B EXON Missense_N918K exm452617 5 41018798 [A/G] NM_173489 MROH2B EXON Missense_F890L exm452623 5 41018868 [T/C] NM_173489 MROH2B EXON Missense_M866I exm452625 5 41019002 [T/C] NM_173489 MROH2B EXON Missense_D854N exm452626 5 41019061 [T/C] NM_173489 MROH2B EXON Missense_R834Q exm452631 5 41032877 [T/C] NM_173489 MROH2B EXON Missense_R803Q exm452634 5 41032908 [A/C] NM_173489 MROH2B EXON Nonsense_E793X exm452637 5 41033163 [T/C] NM_173489 MROH2B EXON Missense_M781V exm2242491 5 41038854 [T/C] NM_173489 MROH2B EXON Missense_H733R exm452643 5 41038870 [C/G] NM_173489 MROH2B EXON Missense_Q728E exm452647 5 41038962 [T/G] NM_173489 MROH2B EXON Missense_T697N exm452656 5 41042204 [A/T] NM_173489 MROH2B EXON Missense_D648V exm452669 5 41045927 [T/C] NM_173489 MROH2B EXON Missense_S586N exm452673 5 41048434 [C/G] NM_173489 MROH2B EXON Missense_P559R exm452676 5 41048533 [T/C] NM_173489 MROH2B EXON Missense_R526H exm452679 5 41049242 [T/C] NM_173489 MROH2B EXON Synonymous_V501V exm452681 5 41049397 [T/C] NM_173489 MROH2B EXON Missense_V496I exm452685 5 41049433 [T/G] NM_173489 MROH2B EXON Missense_K484Q exm452686 5 41049480 [T/A] NM_173489 MROH2B EXON Missense_E468V exm452690 5 41051137 [T/C] NM_173489 MROH2B EXON Missense_R429Q exm452693 5 41052579 [A/C] NM_173489 MROH2B EXON Missense_L406F exm452696 5 41052592 [T/C] NM_173489 MROH2B EXON Missense_Q402R exm452697 5 41052617 [A/G] NM_173489 MROH2B EXON Missense_P394S exm452706 5 41055888 [T/C] NM_173489 MROH2B EXON Missense_R330Q exm452707 5 41055906 [C/G] NM_173489 MROH2B EXON Missense_S324T exm452717 5 41061715 [T/C] NM_173489 MROH2B EXON Nonsense_W191X exm452718 5 41061716 [A/G] NM_173489 MROH2B EXON Missense_W191R exm452722 5 41064577 [A/T] NM_173489 MROH2B EXON Missense_I153F exm2100594 5 41064588 [T/C] NM_173489 MROH2B EXON Missense_G149E exm452724 5 41064630 [A/G] NM_173489 MROH2B EXON Missense_M135T exm452726 5 41064643 [T/C] NM_173489 MROH2B EXON Missense_T131A exm452738 5 41067259 [A/G] NM_173489 MROH2B EXON Missense_I51T exm2100604 5 41069815 [T/C] NM_173489 MROH2B EXON Missense_N23S exm452740 5 41069852 [T/C] NM_173489 MROH2B EXON Missense_M11V exm452744 5 41142932 [T/C] NM_000065,NM_001115131 C6,C6 EXON Missense_A934T,Missense_A934T exm452750 5 41149361 [T/C] NM_000065,NM_001115131 C6,C6 EXON Missense_D869N,Missense_D869N exm452754 5 41149448 [T/C] NM_000065,NM_001115131 C6,C6 EXON Missense_G840S,Missense_G840S exm452756 5 41149531 [A/G] NM_000065,NM_001115131 C6,C6 EXON Missense_T812I,Missense_T812I exm452758 5 41150035 [A/G] NM_000065,NM_001115131 C6,C6 Silent,Silent exm452761 5 41150125 [T/C] NM_000065,NM_001115131 C6,C6 EXON Missense_T765A,Missense_T765A exm452762 5 41153914 [T/C] NM_000065,NM_001115131 C6,C6 EXON Missense_K763R,Missense_K763R exm452772 5 41155074 [A/G] NM_000065,NM_001115131 C6,C6 EXON Missense_R701W,Missense_R701W exm452780 5 41155144 [T/G] NM_000065,NM_001115131 C6,C6 EXON Missense_E677D,Missense_E677D exm452782 5 41155176 [C/G] NM_000065,NM_001115131 C6,C6 EXON Missense_D667H,Missense_D667H exm452783 5 41158777 [T/C] NM_000065,NM_001115131 C6,C6 EXON Missense_R656Q,Missense_R656Q exm452787 5 41158838 [G/C] NM_000065,NM_001115131 C6,C6 EXON Missense_P636A,Missense_P636A exm452792 5 41159192 [T/C] NM_000065,NM_001115131 C6,C6 EXON Missense_M616I,Missense_M616I exm452795 5 41159253 [T/C] NM_000065,NM_001115131 C6,C6 EXON Missense_R596Q,Missense_R596Q exm452796 5 41159254 [A/G] NM_000065,NM_001115131 C6,C6 EXON Nonsense_R596X,Nonsense_R596X exm452800 5 41159339 [G/C] NM_000065,NM_001115131 C6,C6 EXON Missense_Q567H,Missense_Q567H exm452808 5 41160336 [T/C] NM_000065,NM_001115131 C6,C6 EXON Missense_R531Q,Missense_R531Q exm452809 5 41160373 [T/C] NM_000065,NM_001115131 C6,C6 EXON Missense_D519N,Missense_D519N exm452813 5 41160457 [T/C] NM_000065,NM_001115131 C6,C6 EXON Missense_V491M,Missense_V491M exm452818 5 41161866 [G/C] NM_000065,NM_001115131 C6,C6 EXON Missense_G463R,Missense_G463R exm452819 5 41161898 [T/C] NM_000065,NM_001115131 C6,C6 EXON Missense_G452E,Missense_G452E exm2100633 5 41161919 [T/C] NM_000065,NM_001115131 C6,C6 EXON Missense_R445Q,Missense_R445Q exm452827 5 41172429 [T/C] NM_000065,NM_001115131 C6,C6 EXON Missense_K397E,Missense_K397E exm452829 5 41172449 [T/C] NM_000065,NM_001115131 C6,C6 EXON Missense_G390D,Missense_G390D exm452833 5 41176765 [A/G] NM_000065,NM_001115131 C6,C6 EXON Missense_T327M,Missense_T327M exm452834 5 41176790 [T/C] NM_000065,NM_001115131 C6,C6 EXON Missense_V319M,Missense_V319M exm452837 5 41181469 [A/G] NM_000065,NM_001115131 C6,C6 EXON Missense_H307Y,Missense_H307Y exm452839 5 41181540 [A/C] NM_000065,NM_001115131 C6,C6 EXON Missense_I283S,Missense_I283S exm2100647 5 41181567 [T/C] NM_000065,NM_001115131 C6,C6 EXON Missense_Q274R,Missense_Q274R exm2100648 5 41181633 [A/G] NM_000065,NM_001115131 C6,C6 EXON Missense_T252I,Missense_T252I exm452847 5 41186186 [T/G] NM_000065,NM_001115131 C6,C6 EXON Missense_N238H,Missense_N238H exm452851 5 41186221 [A/G] NM_000065,NM_001115131 C6,C6 EXON Missense_T226I,Missense_T226I exm452853 5 41186248 [A/G] NM_000065,NM_001115131 C6,C6 EXON Missense_I217T,Missense_I217T exm452857 5 41195937 [A/G] NM_000065,NM_001115131 C6,C6 EXON Missense_R182W,Missense_R182W exm452858 5 41195939 [A/G] NM_000065,NM_001115131 C6,C6 EXON Missense_T181I,Missense_T181I exm452865 5 41199959 [T/G] NM_000065,NM_001115131 C6,C6 EXON Missense_A119E,Missense_A119E exm452874 5 41203190 [T/C] NM_000065,NM_001115131 C6,C6 EXON Missense_R48K,Missense_R48K exm452881 5 41203322 [A/C] NM_000065,NM_001115131 C6,C6 EXON Missense_R4L,Missense_R4L exm452882 5 41203323 [A/G] NM_000065,NM_001115131 C6,C6 EXON Missense_R4C,Missense_R4C exm452894 5 41313840 [A/G] NM_001005473 PLCXD3 EXON Missense_T282M exm2266075 5 41336050 [A/G] NM_001005473 PLCXD3 Silent exm452911 5 41382364 [G/C] NM_001005473 PLCXD3 EXON Missense_E126Q exm2100681 5 41382447 [T/C] NM_001005473 PLCXD3 EXON Missense_R98Q exm2264119 5 41574561 [A/C] exm2270200 5 41625968 [T/G] exm452965 5 41805782 [T/C] NM_000436 OXCT1 EXON Missense_R281H exm452975 5 41842798 [A/C] NM_000436 OXCT1 EXON Missense_R217L exm452993 5 41862758 [A/G] NM_000436 OXCT1 EXON Missense_T58M exm452995 5 41862819 [A/G] NM_000436 OXCT1 EXON Missense_R38C exm453010 5 41909884 [A/C] NM_175921 C5orf51 EXON Missense_L82I exm453014 5 41911190 [T/C] NM_175921 C5orf51 EXON Missense_S132F exm453018 5 41912181 [A/G] NM_175921 C5orf51 EXON Missense_D166G exm453020 5 41912223 [T/C] NM_175921 C5orf51 EXON Missense_P180L exm453042 5 41929915 [T/C] NM_033484,NM_012176 FBXO4,FBXO4 EXON Missense_M181T,Missense_M181T exm453046 5 41934110 [T/C] NM_033484,NM_012176 FBXO4,FBXO4 EXON Missense_Y237H,Missense_Y237H exm453047 5 41934233 [A/G] NM_033484,NM_012176 FBXO4,FBXO4 Silent,Silent exm453067 5 41941350 [T/G] NM_012176 FBXO4 EXON Missense_I377M exm-rs979233 5 42375243 [A/C] exm-rs13188386 5 42473555 [A/G] NM_000163,NM_001242399,NM_001242400,NM_001242401 GHR,GHR,GHR,GHR Silent,Silent,Silent,Silent exm453070 5 42565967 [T/C] NM_000163,NM_001242399,NM_001242400,NM_001242401,NM_001242402,NM_001242403,NM_001242404,NM_001242405,NM_001242406,NM_001242462,NM_001242461,NM_001242460 GHR,GHR,GHR,GHR,GHR,GHR,GHR,GHR,GHR,GHR,GHR,GHR EXON Silent,Synonymous_G4G,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm2100770 5 42689061 [T/C] NM_000163,NM_001242399,NM_001242400,NM_001242401,NM_001242402,NM_001242403,NM_001242404,NM_001242405,NM_001242406,NM_001242462,NM_001242461,NM_001242460 GHR,GHR,GHR,GHR,GHR,GHR,GHR,GHR,GHR,GHR,GHR,GHR EXON Missense_T69I,Missense_T76I,Missense_T69I,Missense_T69I,Missense_T69I,Missense_T69I,Missense_T69I,Missense_T69I,Missense_T69I,Missense_T69I,Missense_T69I,Missense_T47I exm453082 5 42689094 [T/G] NM_000163,NM_001242399,NM_001242400,NM_001242401,NM_001242402,NM_001242403,NM_001242404,NM_001242405,NM_001242406,NM_001242462,NM_001242461,NM_001242460 GHR,GHR,GHR,GHR,GHR,GHR,GHR,GHR,GHR,GHR,GHR,GHR EXON Missense_G80V,Missense_G87V,Missense_G80V,Missense_G80V,Missense_G80V,Missense_G80V,Missense_G80V,Missense_G80V,Missense_G80V,Missense_G80V,Missense_G80V,Missense_G58V exm453084 5 42695025 [T/A] NM_000163,NM_001242399,NM_001242400,NM_001242401,NM_001242402,NM_001242403,NM_001242404,NM_001242405,NM_001242406,NM_001242462,NM_001242461,NM_001242460 GHR,GHR,GHR,GHR,GHR,GHR,GHR,GHR,GHR,GHR,GHR,GHR EXON Synonymous_T91T,Synonymous_T98T,Synonymous_T91T,Synonymous_T91T,Synonymous_T91T,Synonymous_T91T,Synonymous_T91T,Synonymous_T91T,Synonymous_T91T,Synonymous_T91T,Synonymous_T91T,Synonymous_T69T exm2100776 5 42695158 [T/G] NM_000163,NM_001242399,NM_001242400,NM_001242401,NM_001242402,NM_001242403,NM_001242404,NM_001242405,NM_001242406,NM_001242462,NM_001242461,NM_001242460 GHR,GHR,GHR,GHR,GHR,GHR,GHR,GHR,GHR,GHR,GHR,GHR EXON Missense_V136L,Missense_V143L,Missense_V136L,Missense_V136L,Missense_V136L,Missense_V136L,Missense_V136L,Missense_V136L,Missense_V136L,Missense_V136L,Missense_V136L,Missense_V114L exm453088 5 42695163 [A/T] NM_000163,NM_001242399,NM_001242400,NM_001242401,NM_001242402,NM_001242403,NM_001242404,NM_001242405,NM_001242406,NM_001242462,NM_001242461,NM_001242460 GHR,GHR,GHR,GHR,GHR,GHR,GHR,GHR,GHR,GHR,GHR,GHR EXON Missense_D137E,Missense_D144E,Missense_D137E,Missense_D137E,Missense_D137E,Missense_D137E,Missense_D137E,Missense_D137E,Missense_D137E,Missense_D137E,Missense_D137E,Missense_D115E exm453091 5 42699937 [T/C] NM_000163,NM_001242399,NM_001242400,NM_001242401,NM_001242402,NM_001242403,NM_001242404,NM_001242405,NM_001242406,NM_001242462,NM_001242461,NM_001242460 GHR,GHR,GHR,GHR,GHR,GHR,GHR,GHR,GHR,GHR,GHR,GHR EXON Missense_P151S,Missense_P158S,Missense_P151S,Missense_P151S,Missense_P151S,Missense_P151S,Missense_P151S,Missense_P151S,Missense_P151S,Missense_P151S,Missense_P151S,Missense_P129S exm453093 5 42699970 [A/G] NM_000163,NM_001242399,NM_001242400,NM_001242401,NM_001242402,NM_001242403,NM_001242404,NM_001242405,NM_001242406,NM_001242462,NM_001242461,NM_001242460 GHR,GHR,GHR,GHR,GHR,GHR,GHR,GHR,GHR,GHR,GHR,GHR EXON Missense_V162I,Missense_V169I,Missense_V162I,Missense_V162I,Missense_V162I,Missense_V162I,Missense_V162I,Missense_V162I,Missense_V162I,Missense_V162I,Missense_V162I,Missense_V140I exm453096 5 42700021 [T/C] NM_000163,NM_001242399,NM_001242400,NM_001242401,NM_001242402,NM_001242403,NM_001242404,NM_001242405,NM_001242406,NM_001242462,NM_001242461,NM_001242460 GHR,GHR,GHR,GHR,GHR,GHR,GHR,GHR,GHR,GHR,GHR,GHR EXON Missense_R179C,Missense_R186C,Missense_R179C,Missense_R179C,Missense_R179C,Missense_R179C,Missense_R179C,Missense_R179C,Missense_R179C,Missense_R179C,Missense_R179C,Missense_R157C exm453097 5 42700022 [A/G] NM_000163,NM_001242399,NM_001242400,NM_001242401,NM_001242402,NM_001242403,NM_001242404,NM_001242405,NM_001242406,NM_001242462,NM_001242461,NM_001242460 GHR,GHR,GHR,GHR,GHR,GHR,GHR,GHR,GHR,GHR,GHR,GHR EXON Missense_R179H,Missense_R186H,Missense_R179H,Missense_R179H,Missense_R179H,Missense_R179H,Missense_R179H,Missense_R179H,Missense_R179H,Missense_R179H,Missense_R179H,Missense_R157H exm2100780 5 42700054 [T/C] NM_000163,NM_001242399,NM_001242400,NM_001242401,NM_001242402,NM_001242403,NM_001242404,NM_001242405,NM_001242406,NM_001242462,NM_001242461,NM_001242460 GHR,GHR,GHR,GHR,GHR,GHR,GHR,GHR,GHR,GHR,GHR,GHR EXON Synonymous_L190L,Synonymous_L197L,Synonymous_L190L,Synonymous_L190L,Synonymous_L190L,Synonymous_L190L,Synonymous_L190L,Synonymous_L190L,Synonymous_L190L,Synonymous_L190L,Synonymous_L190L,Synonymous_L168L exm2242498 5 42711394 [A/G] NM_000163,NM_001242399,NM_001242400,NM_001242401,NM_001242402,NM_001242403,NM_001242404,NM_001242405,NM_001242406,NM_001242462,NM_001242461,NM_001242460 GHR,GHR,GHR,GHR,GHR,GHR,GHR,GHR,GHR,GHR,GHR,GHR EXON Missense_R235Q,Missense_R242Q,Missense_R235Q,Missense_R235Q,Missense_R235Q,Missense_R235Q,Missense_R235Q,Missense_R235Q,Missense_R235Q,Missense_R235Q,Missense_R235Q,Missense_R213Q exm453108 5 42711408 [T/C] NM_000163,NM_001242399,NM_001242400,NM_001242401,NM_001242402,NM_001242403,NM_001242404,NM_001242405,NM_001242406,NM_001242462,NM_001242461,NM_001242460 GHR,GHR,GHR,GHR,GHR,GHR,GHR,GHR,GHR,GHR,GHR,GHR EXON Missense_Y240H,Missense_Y247H,Missense_Y240H,Missense_Y240H,Missense_Y240H,Missense_Y240H,Missense_Y240H,Missense_Y240H,Missense_Y240H,Missense_Y240H,Missense_Y240H,Missense_Y218H exm453109 5 42711414 [A/G] NM_000163,NM_001242399,NM_001242400,NM_001242401,NM_001242402,NM_001242403,NM_001242404,NM_001242405,NM_001242406,NM_001242462,NM_001242461,NM_001242460 GHR,GHR,GHR,GHR,GHR,GHR,GHR,GHR,GHR,GHR,GHR,GHR EXON Missense_E242K,Missense_E249K,Missense_E242K,Missense_E242K,Missense_E242K,Missense_E242K,Missense_E242K,Missense_E242K,Missense_E242K,Missense_E242K,Missense_E242K,Missense_E220K exm453116 5 42713560 [A/G] NM_000163,NM_001242399,NM_001242400,NM_001242401,NM_001242402,NM_001242403,NM_001242404,NM_001242405,NM_001242406,NM_001242462,NM_001242461,NM_001242460 GHR,GHR,GHR,GHR,GHR,GHR,GHR,GHR,GHR,GHR,GHR,GHR EXON Missense_I272V,Missense_I279V,Missense_I272V,Missense_I272V,Missense_I272V,Missense_I272V,Missense_I272V,Missense_I272V,Missense_I272V,Missense_I272V,Missense_I272V,Missense_I250V exm453118 5 42718577 [A/G] NM_000163,NM_001242399,NM_001242400,NM_001242401,NM_001242402,NM_001242403,NM_001242404,NM_001242405,NM_001242406,NM_001242462,NM_001242461,NM_001242460 GHR,GHR,GHR,GHR,GHR,GHR,GHR,GHR,GHR,GHR,GHR,GHR EXON Missense_N323S,Missense_N330S,Missense_N323S,Missense_N323S,Missense_N323S,Missense_N323S,Missense_N323S,Missense_N323S,Missense_N323S,Silent,Silent,Missense_N301S exm453120 5 42718612 [A/G] NM_000163,NM_001242399,NM_001242400,NM_001242401,NM_001242402,NM_001242403,NM_001242404,NM_001242405,NM_001242406,NM_001242462,NM_001242461,NM_001242460 GHR,GHR,GHR,GHR,GHR,GHR,GHR,GHR,GHR,GHR,GHR,GHR EXON Missense_E335K,Missense_E342K,Missense_E335K,Missense_E335K,Missense_E335K,Missense_E335K,Missense_E335K,Missense_E335K,Missense_E335K,Silent,Silent,Missense_E313K exm453129 5 42718765 [T/C] NM_000163,NM_001242399,NM_001242400,NM_001242401,NM_001242402,NM_001242403,NM_001242404,NM_001242405,NM_001242406,NM_001242462,NM_001242461,NM_001242460 GHR,GHR,GHR,GHR,GHR,GHR,GHR,GHR,GHR,GHR,GHR,GHR EXON Missense_R386C,Missense_R393C,Missense_R386C,Missense_R386C,Missense_R386C,Missense_R386C,Missense_R386C,Missense_R386C,Missense_R386C,Silent,Silent,Missense_R364C exm453135 5 42718928 [T/G] NM_000163,NM_001242399,NM_001242400,NM_001242401,NM_001242402,NM_001242403,NM_001242404,NM_001242405,NM_001242406,NM_001242462,NM_001242461,NM_001242460 GHR,GHR,GHR,GHR,GHR,GHR,GHR,GHR,GHR,GHR,GHR,GHR EXON Missense_C440F,Missense_C447F,Missense_C440F,Missense_C440F,Missense_C440F,Missense_C440F,Missense_C440F,Missense_C440F,Missense_C440F,Silent,Silent,Missense_C418F exm453136 5 42718997 [A/G] NM_000163,NM_001242399,NM_001242400,NM_001242401,NM_001242402,NM_001242403,NM_001242404,NM_001242405,NM_001242406,NM_001242462,NM_001242461,NM_001242460 GHR,GHR,GHR,GHR,GHR,GHR,GHR,GHR,GHR,GHR,GHR,GHR EXON Missense_G463E,Missense_G470E,Missense_G463E,Missense_G463E,Missense_G463E,Missense_G463E,Missense_G463E,Missense_G463E,Missense_G463E,Silent,Silent,Missense_G441E exm2242501 5 42719092 [A/C] NM_000163,NM_001242399,NM_001242400,NM_001242401,NM_001242402,NM_001242403,NM_001242404,NM_001242405,NM_001242406,NM_001242462,NM_001242461,NM_001242460 GHR,GHR,GHR,GHR,GHR,GHR,GHR,GHR,GHR,GHR,GHR,GHR EXON Missense_P495T,Missense_P502T,Missense_P495T,Missense_P495T,Missense_P495T,Missense_P495T,Missense_P495T,Missense_P495T,Missense_P495T,Silent,Silent,Missense_P473T exm453148 5 42719239 [A/C] NM_000163,NM_001242399,NM_001242400,NM_001242401,NM_001242402,NM_001242403,NM_001242404,NM_001242405,NM_001242406,NM_001242462,NM_001242461,NM_001242460 GHR,GHR,GHR,GHR,GHR,GHR,GHR,GHR,GHR,GHR,GHR,GHR EXON Missense_I544L,Missense_I551L,Missense_I544L,Missense_I544L,Missense_I544L,Missense_I544L,Missense_I544L,Missense_I544L,Missense_I544L,Silent,Silent,Missense_I522L exm453154 5 42719312 [T/C] NM_000163,NM_001242399,NM_001242400,NM_001242401,NM_001242402,NM_001242403,NM_001242404,NM_001242405,NM_001242406,NM_001242462,NM_001242461,NM_001242460 GHR,GHR,GHR,GHR,GHR,GHR,GHR,GHR,GHR,GHR,GHR,GHR EXON Missense_T568I,Missense_T575I,Missense_T568I,Missense_T568I,Missense_T568I,Missense_T568I,Missense_T568I,Missense_T568I,Missense_T568I,Silent,Silent,Missense_T546I exm453155 5 42719344 [A/C] NM_000163,NM_001242399,NM_001242400,NM_001242401,NM_001242402,NM_001242403,NM_001242404,NM_001242405,NM_001242406,NM_001242462,NM_001242461,NM_001242460 GHR,GHR,GHR,GHR,GHR,GHR,GHR,GHR,GHR,GHR,GHR,GHR EXON Missense_P579T,Missense_P586T,Missense_P579T,Missense_P579T,Missense_P579T,Missense_P579T,Missense_P579T,Missense_P579T,Missense_P579T,Silent,Silent,Missense_P557T exm453156 5 42719361 [T/C] NM_000163,NM_001242399,NM_001242400,NM_001242401,NM_001242402,NM_001242403,NM_001242404,NM_001242405,NM_001242406,NM_001242462,NM_001242461,NM_001242460 GHR,GHR,GHR,GHR,GHR,GHR,GHR,GHR,GHR,GHR,GHR,GHR EXON Synonymous_H584H,Synonymous_H591H,Synonymous_H584H,Synonymous_H584H,Synonymous_H584H,Synonymous_H584H,Synonymous_H584H,Synonymous_H584H,Synonymous_H584H,Silent,Silent,Synonymous_H562H exm453170 5 42759230 [A/C] NM_001134848 CCDC152 EXON Missense_Q3K exm2270041 5 42782492 [T/C] NM_001134848 CCDC152 Silent exm453181 5 42799810 [A/G] NM_001134848 CCDC152 EXON Missense_R231H exm453183 5 42799870 [A/G] NM_001134848 CCDC152 EXON Missense_R251H exm453189 5 42800866 [A/G] NM_001134848,NM_005410,NM_001093726,NM_001085486 CCDC152,SEPP1,SEPP1,SEPP1 EXON Silent,Missense_R368C,Missense_R398C,Missense_R368C exm453190 5 42800878 [T/C] NM_001134848,NM_005410,NM_001093726,NM_001085486 CCDC152,SEPP1,SEPP1,SEPP1 EXON Silent,Missense_S364G,Missense_S394G,Missense_S364G exm453193 5 42800967 [T/C] NM_001134848,NM_005410,NM_001093726,NM_001085486 CCDC152,SEPP1,SEPP1,SEPP1 EXON Silent,Missense_R334Q,Missense_R364Q,Missense_R334Q exm453194 5 42801028 [A/G] NM_001134848,NM_005410,NM_001093726,NM_001085486 CCDC152,SEPP1,SEPP1,SEPP1 EXON Silent,Missense_S314P,Missense_S344P,Missense_S314P exm453196 5 42801084 [A/G] NM_001134848,NM_005410,NM_001093726,NM_001085486 CCDC152,SEPP1,SEPP1,SEPP1 EXON Silent,Missense_L295S,Missense_L325S,Missense_L295S exm453200 5 42801179 [T/C] NM_001134848,NM_005410,NM_001093726,NM_001085486 CCDC152,SEPP1,SEPP1,SEPP1 EXON Silent,Missense_M263I,Missense_M293I,Missense_M263I exm453205 5 42801268 [T/C] NM_001134848,NM_005410,NM_001093726,NM_001085486 CCDC152,SEPP1,SEPP1,SEPP1 EXON Silent,Missense_A234T,Missense_A264T,Missense_A234T exm453208 5 42801363 [A/G] NM_001134848,NM_005410,NM_001093726,NM_001085486 CCDC152,SEPP1,SEPP1,SEPP1 EXON Silent,Missense_S202L,Missense_S232L,Missense_S202L exm453232 5 42808371 [T/C] NM_005410,NM_001093726,NM_001085486 SEPP1,SEPP1,SEPP1 EXON Missense_K29E,Missense_K59E,Missense_K29E exm453238 5 42810880 [A/G] NM_005410,NM_001093726,NM_001085486 SEPP1,SEPP1,SEPP1 EXON Silent,Silent,Silent exm2270042 5 42949962 [T/G] exm-rs9292862 5 43028221 [A/G] exm453260 5 43039593 [A/G] NM_001014279 ANXA2R EXON Missense_R186W exm453261 5 43039618 [T/G] NM_001014279 ANXA2R EXON Missense_F177L exm453269 5 43039793 [T/C] NM_001014279 ANXA2R EXON Missense_Q119R exm453281 5 43040082 [A/G] NM_001014279 ANXA2R EXON Nonsense_Q23X exm453302 5 43161351 [A/G] NM_003432 ZNF131 EXON Synonymous_R124R exm453306 5 43161568 [A/G] NM_003432 ZNF131 EXON Missense_V197I exm2242506 5 43174871 [T/C] NM_003432 ZNF131 EXON Missense_L469P exm453331 5 43174970 [C/G] NM_003432 ZNF131 EXON Missense_T502S exm453332 5 43174994 [A/G] NM_003432 ZNF131 EXON Missense_H510R exm2100844 5 43175096 [T/A] NM_003432 ZNF131 EXON Missense_E544V exm453341 5 43175176 [A/G] NM_003432 ZNF131 EXON Missense_D571N exm453342 5 43175191 [A/G] NM_003432 ZNF131 EXON Missense_K576E exm453343 5 43175194 [C/G] NM_003432 ZNF131 EXON Missense_A577P exm453344 5 43175202 [T/G] NM_003432 ZNF131 EXON Missense_N579K exm453351 5 43245939 [A/G] NM_153361,NR_072980 NIM1,NIM1 EXON Missense_R21Q,Silent exm453353 5 43245944 [A/G] NM_153361,NR_072980 NIM1,NIM1 EXON Missense_D23N,Silent exm453356 5 43246005 [A/G] NM_153361,NR_072980 NIM1,NIM1 EXON Missense_R43H,Silent exm453366 5 43246136 [T/C] NM_153361,NR_072980 NIM1,NIM1 EXON Nonsense_Q87X,Silent exm453375 5 43277321 [A/G] NM_153361,NR_072980 NIM1,NIM1 EXON Missense_Y152C,Silent exm453401 5 43280410 [T/C] NM_153361,NR_072980 NIM1,NIM1 EXON Missense_P297L,Silent exm453402 5 43280431 [G/C] NM_153361,NR_072980 NIM1,NIM1 EXON Missense_G304A,Silent exm453403 5 43280480 [A/G] NM_153361,NR_072980 NIM1,NIM1 EXON Missense_M320I,Silent exm453404 5 43280482 [A/G] NM_153361,NR_072980 NIM1,NIM1 EXON Missense_N321S,Silent exm453428 5 43294159 [T/C] NM_001098272,NM_002130 HMGCS1,HMGCS1 EXON Synonymous_P394P,Synonymous_P394P exm453430 5 43294166 [C/G] NM_001098272,NM_002130 HMGCS1,HMGCS1 EXON Missense_A392G,Missense_A392G exm2257241 5 43294948 [T/C] NM_001098272,NM_002130 HMGCS1,HMGCS1 EXON Synonymous_E307E,Synonymous_E307E exm453437 5 43295881 [G/C] NM_001098272,NM_002130 HMGCS1,HMGCS1 EXON Missense_S293T,Missense_S293T exm453459 5 43382009 [T/C] NM_148672 CCL28 EXON Missense_A113T exm453461 5 43382029 [A/C] NM_148672 CCL28 EXON Missense_G106V exm453467 5 43388500 [T/A] NM_148672 CCL28 EXON Missense_M48K exm453470 5 43412355 [T/C] NM_148672 CCL28 EXON Missense_A22T exm453471 5 43412366 [T/C] NM_148672 CCL28 EXON Missense_H18R exm453488 5 43446640 [T/C] NM_022483 C5orf28 EXON Missense_R111Q exm453490 5 43446643 [A/G] NM_022483 C5orf28 EXON Missense_P110L exm453494 5 43453931 [T/C] NM_022483 C5orf28 EXON Nonsense_W47X exm453507 5 43487210 [A/G] NM_198566 C5orf34 EXON Missense_L575P exm453517 5 43492396 [T/A] NM_198566 C5orf34 EXON Missense_N501Y exm453518 5 43492824 [T/G] NM_198566 C5orf34 EXON Missense_Q495K exm453519 5 43492835 [A/G] NM_198566 C5orf34 EXON Missense_I491T exm453537 5 43494684 [A/G] NM_198566 C5orf34 EXON Missense_S391L exm453543 5 43503793 [A/C] NM_198566 C5orf34 EXON Missense_M334I exm2100919 5 43505976 [A/G] NM_198566 C5orf34 EXON Missense_S269F exm453550 5 43505980 [T/C] NM_198566 C5orf34 EXON Missense_M268V exm453561 5 43506105 [A/G] NM_198566 C5orf34 EXON Missense_S226L exm2242513 5 43506166 [T/C] NM_198566 C5orf34 EXON Missense_K206E exm453564 5 43506216 [A/T] NM_198566 C5orf34 EXON Missense_Q189L exm453566 5 43506235 [A/G] NM_198566 C5orf34 EXON Missense_R183C exm453577 5 43508741 [A/G] NM_198566 C5orf34 EXON Nonsense_R75X exm453585 5 43509348 [A/T] NM_198566 C5orf34 EXON Missense_T32S exm453589 5 43509434 [C/G] NM_198566 C5orf34 EXON Missense_A3G exm453603 5 43535661 [T/C] NM_006451,NM_183323,NM_182789 PAIP1,PAIP1,PAIP1 EXON Missense_V352I,Missense_V240I,Missense_V273I exm453617 5 43543149 [T/C] NM_006451,NM_183323,NM_182789 PAIP1,PAIP1,PAIP1 EXON Missense_I231V,Missense_I119V,Missense_I152V exm2100942 5 43609377 [A/G] NM_012343,NM_182977 NNT,NNT EXON Missense_R27H,Missense_R27H exm453643 5 43609426 [G/C] NM_012343,NM_182977 NNT,NNT EXON Missense_W43C,Missense_W43C exm453656 5 43616091 [A/C] NM_012343,NM_182977 NNT,NNT EXON Missense_L175M,Missense_L175M exm453662 5 43619171 [T/C] NM_012343,NM_182977 NNT,NNT EXON Missense_R213C,Missense_R213C exm453677 5 43644318 [A/G] NM_012343,NM_182977 NNT,NNT EXON Missense_N330S,Missense_N330S exm453687 5 43644894 [T/C] NM_012343,NM_182977 NNT,NNT EXON Missense_V427A,Missense_V427A exm453696 5 43645592 [T/C] NM_012343,NM_182977 NNT,NNT EXON Missense_T475M,Missense_T475M exm453713 5 43651940 [T/C] NM_012343,NM_182977 NNT,NNT EXON Missense_V606A,Missense_V606A exm453720 5 43653243 [T/C] NM_012343,NM_182977 NNT,NNT EXON Missense_L663F,Missense_L663F exm453724 5 43655960 [A/G] NM_012343,NM_182977 NNT,NNT EXON Missense_R693H,Missense_R693H exm453729 5 43656074 [T/C] NM_012343,NM_182977 NNT,NNT EXON Missense_T731M,Missense_T731M exm453732 5 43656847 [A/G] NM_012343,NM_182977 NNT,NNT EXON Missense_M796V,Missense_M796V exm453735 5 43656866 [T/C] NM_012343,NM_182977 NNT,NNT EXON Missense_T802I,Missense_T802I exm2274070 5 43675682 [A/C] NM_012343,NM_182977 NNT,NNT EXON Missense_P902T,Missense_P902T exm453751 5 43675730 [A/G] NM_012343,NM_182977 NNT,NNT EXON Missense_I918V,Missense_I918V exm453753 5 43675755 [A/G] NM_012343,NM_182977 NNT,NNT EXON Missense_S926N,Missense_S926N exm453761 5 43700321 [A/G] NM_012343,NM_182977 NNT,NNT EXON Missense_I993V,Missense_I993V exm453769 5 43704469 [T/C] NM_012343,NM_182977 NNT,NNT EXON Missense_A1075V,Missense_A1075V exm2261930 5 43711378 [A/G] exm-rs4296809 5 44186668 [A/C] exm2265937 5 44296986 [A/G] exm453776 5 44305104 [T/G] NM_004465 FGF10 EXON Missense_H207P exm453796 5 44388688 [T/C] NM_004465 FGF10 EXON Missense_V33I exm-rs4415084 5 44662515 [T/C] exm453799 5 44809066 [T/C] NM_016640 MRPS30 EXON Missense_M1T exm453802 5 44809098 [A/C] NM_016640 MRPS30 EXON Missense_R12S exm2101009 5 44809338 [A/G] NM_016640 MRPS30 EXON Missense_M92V exm453813 5 44809369 [T/C] NM_016640 MRPS30 EXON Missense_A102V exm2101010 5 44809408 [T/A] NM_016640 MRPS30 EXON Missense_L115Q exm453828 5 44809548 [G/C] NM_016640 MRPS30 EXON Missense_R162G exm453838 5 44811207 [T/G] NM_016640 MRPS30 EXON Missense_I233R exm453841 5 44812044 [A/G] NM_016640 MRPS30 EXON Missense_I259V exm2242520 5 44812090 [T/C] NM_016640 MRPS30 EXON Missense_F274S exm453848 5 44813261 [A/C] NM_016640 MRPS30 EXON Missense_P303T exm453849 5 44813268 [A/G] NM_016640 MRPS30 EXON Missense_K305R exm453850 5 44813282 [A/G] NM_016640 MRPS30 EXON Missense_R310G exm-rs7716600 5 44875005 [A/C] exm2266078 5 44875449 [A/G] exm-rs10941694 5 45197779 [A/G] exm453889 5 45262526 [T/C] NM_021072 HCN1 EXON Missense_A724T exm453894 5 45262687 [A/G] NM_021072 HCN1 EXON Missense_A670V exm-rs981782 5 45285718 [A/C] NM_021072 HCN1 Silent exm2270043 5 45427173 [T/C] NM_021072 HCN1 Silent exm2265939 5 46162561 [A/G] exm2266080 5 46174864 [A/G] exm2265940 5 46349193 [A/G] exm453972 5 49699209 [A/G] NM_198449 EMB EXON Missense_L227P exm2242527 5 49699225 [T/G] NM_198449 EMB EXON Missense_L222M exm453982 5 49706712 [T/G] NM_198449 EMB EXON Missense_K157N exm2101181 5 49707136 [G/C] NM_198449 EMB EXON Missense_S93C exm453993 5 49723979 [A/G] NM_198449 EMB EXON Synonymous_T65T exm453996 5 49724058 [A/G] NM_198449 EMB EXON Missense_S39L exm2270045 5 49807182 [T/C] exm454017 5 50057670 [A/G] NM_001178055,NM_001178056,NM_024615 PARP8,PARP8,PARP8 EXON Missense_S121G,Missense_S121G,Missense_S121G exm2266081 5 50057729 [A/G] NM_001178055,NM_001178056,NM_024615 PARP8,PARP8,PARP8 EXON Synonymous_G140G,Synonymous_G140G,Synonymous_G140G exm2242529 5 50059007 [A/T] NM_001178055,NM_001178056,NM_024615 PARP8,PARP8,PARP8 EXON Missense_K150M,Missense_K150M,Missense_K150M exm454024 5 50074425 [A/G] NM_001178055,NM_001178056,NM_024615 PARP8,PARP8,PARP8 EXON Missense_R204Q,Missense_R204Q,Missense_R204Q exm454031 5 50090104 [T/C] NM_001178055,NM_001178056,NM_024615 PARP8,PARP8,PARP8 EXON Synonymous_H267H,Synonymous_H267H,Synonymous_H267H exm2257254 5 50090104 [T/C] NM_001178055,NM_001178056,NM_024615 PARP8,PARP8,PARP8 EXON Synonymous_H267H,Synonymous_H267H,Synonymous_H267H exm454032 5 50090122 [T/G] NM_001178055,NM_001178056,NM_024615 PARP8,PARP8,PARP8 EXON Missense_E273D,Missense_E273D,Missense_E273D exm2101199 5 50090163 [A/G] NM_001178055,NM_001178056,NM_024615 PARP8,PARP8,PARP8 EXON Missense_R287H,Missense_R287H,Missense_R287H exm454041 5 50090934 [A/G] NM_001178055,NM_001178056,NM_024615 PARP8,PARP8,PARP8 EXON Missense_V371I,Missense_V371I,Missense_V371I exm454050 5 50091162 [A/G] NM_001178055,NM_001178056,NM_024615 PARP8,PARP8,PARP8 EXON Missense_E447K,Missense_E447K,Missense_E447K exm454054 5 50092849 [T/C] NM_001178055,NM_001178056,NM_024615 PARP8,PARP8,PARP8 EXON Missense_R488C,Missense_R488C,Missense_R488C exm2101213 5 50093009 [A/G] NM_001178055,NM_001178056,NM_024615 PARP8,PARP8,PARP8 EXON Missense_N506S,Missense_N506S,Missense_N506S exm454063 5 50117112 [C/G] NM_001178055,NM_001178056,NM_024615 PARP8,PARP8,PARP8 EXON Missense_F578L,Silent,Missense_F578L exm454082 5 50125738 [A/G] NM_001178055,NM_001178056,NM_024615 PARP8,PARP8,PARP8 EXON Missense_M726V,Missense_M684V,Missense_M726V exm454084 5 50128656 [A/G] NM_001178055,NM_001178056,NM_024615 PARP8,PARP8,PARP8 EXON Missense_A759T,Missense_A717T,Missense_A759T exm2257255 5 50137836 [T/C] NM_001178055,NM_001178056,NM_024615 PARP8,PARP8,PARP8 EXON Synonymous_N833N,Synonymous_N791N,Synonymous_N833N exm2257257 5 50352533 [T/C] exm454106 5 50683449 [T/C] NM_002202 ISL1 EXON Missense_I115T exm454108 5 50683541 [A/C] NM_002202 ISL1 EXON Missense_P146T exm454119 5 50685756 [A/G] NM_002202 ISL1 EXON Missense_N252S exm454129 5 50689379 [A/G] NM_002202 ISL1 EXON Missense_A329T exm2270047 5 50812738 [T/C] exm2270202 5 51205024 [T/C] exm2270049 5 51655244 [T/C] exm2264143 5 52013727 [A/C] exm454152 5 52096889 [A/C] NM_015946,NM_181501 PELO,ITGA1 EXON Missense_L221M,Silent exm454157 5 52097259 [G/C] NM_015946,NM_181501 PELO,ITGA1 EXON Missense_G248A,Silent exm454194 5 52160871 [G/C] NM_181501 ITGA1 EXON Missense_V151L exm454196 5 52160892 [A/G] NM_181501 ITGA1 EXON Missense_V158M exm454199 5 52161550 [A/G] NM_181501 ITGA1 EXON Missense_I175V exm2270050 5 52163920 [T/G] NM_181501 ITGA1 Silent exm454205 5 52183679 [A/G] NM_181501 ITGA1 EXON Missense_R269Q exm454210 5 52189563 [A/C] NM_181501 ITGA1 EXON Missense_K328Q exm454217 5 52193287 [T/C] NM_181501 ITGA1 EXON Synonymous_A364A exm454218 5 52193318 [A/G] NM_181501 ITGA1 EXON Missense_M375V exm454220 5 52194132 [G/C] NM_181501 ITGA1 EXON Missense_A410P exm454221 5 52194154 [A/G] NM_181501 ITGA1 EXON Missense_R417Q exm454232 5 52201722 [T/C] NM_181501 ITGA1 EXON Missense_T480M exm454236 5 52204785 [A/C] NM_181501 ITGA1 EXON Missense_T505P exm454242 5 52206050 [A/G] NM_181501 ITGA1 EXON Missense_R553Q exm454249 5 52211331 [T/G] NM_181501 ITGA1 EXON Missense_F632C exm454253 5 52214581 [A/G] NM_181501 ITGA1 EXON Missense_V670I exm454258 5 52214702 [T/C] NM_181501 ITGA1 EXON Missense_S710F exm454264 5 52216237 [A/G] NM_181501 ITGA1 EXON Missense_K744R exm454288 5 52229745 [T/G] NM_181501 ITGA1 EXON Missense_I961M exm454294 5 52233237 [A/C] NM_181501 ITGA1 EXON Missense_K991Q exm454304 5 52235743 [T/C] NM_181501 ITGA1 EXON Missense_S1085L exm454309 5 52240810 [A/G] NM_181501 ITGA1 EXON Missense_E1108G exm454311 5 52240850 [A/C] NM_181501 ITGA1 EXON Missense_S1121R exm454319 5 52248266 [T/G] NM_181501 ITGA1 EXON Missense_K1175N exm454333 5 52337983 [A/G] NR_073104,NR_073106,NR_073105,NR_073107,NM_002203,NR_073103 ITGA2,ITGA2,ITGA2,ITGA2,ITGA2,ITGA2 EXON Silent,Silent,Silent,Silent,Missense_R76Q,Silent exm454341 5 52340862 [A/G] NR_073104,NR_073106,NR_073105,NR_073107,NM_002203,NR_073103 ITGA2,ITGA2,ITGA2,ITGA2,ITGA2,ITGA2 EXON Silent,Silent,Silent,Silent,Missense_M109I,Silent exm454348 5 52344487 [A/G] NR_073104,NR_073106,NR_073105,NR_073107,NM_002203,NR_073103 ITGA2,ITGA2,ITGA2,ITGA2,ITGA2,ITGA2 EXON Silent,Silent,Silent,Silent,Missense_I173V,Silent exm454356 5 52347344 [A/G] NR_073104,NR_073106,NR_073105,NR_073107,NM_002203,NR_073103 ITGA2,ITGA2,ITGA2,ITGA2,ITGA2,ITGA2 EXON Silent,Silent,Silent,Silent,Missense_Y245C,Silent exm454366 5 52351838 [A/G] NR_073104,NR_073106,NR_073105,NR_073107,NM_002203,NR_073103 ITGA2,ITGA2,ITGA2,ITGA2,ITGA2,ITGA2 EXON Silent,Silent,Silent,Silent,Missense_A319T,Silent exm454371 5 52351875 [T/C] NR_073104,NR_073106,NR_073105,NR_073107,NM_002203,NR_073103 ITGA2,ITGA2,ITGA2,ITGA2,ITGA2,ITGA2 EXON Silent,Silent,Silent,Silent,Missense_A331V,Silent exm454401 5 52358757 [A/G] NR_073104,NR_073106,NR_073105,NR_073107,NM_002203,NR_073103 ITGA2,ITGA2,ITGA2,ITGA2,ITGA2,ITGA2 EXON Silent,Silent,Silent,Silent,Missense_E534K,Silent exm2101409 5 52368473 [A/G] NR_073104,NR_073106,NR_073105,NR_073107,NM_002203,NR_073103 ITGA2,ITGA2,ITGA2,ITGA2,ITGA2,ITGA2 EXON Silent,Silent,Silent,Silent,Missense_G793R,Silent exm454437 5 52369001 [T/C] NR_073104,NR_073106,NR_073105,NR_073107,NM_002203,NR_073103 ITGA2,ITGA2,ITGA2,ITGA2,ITGA2,ITGA2 EXON Silent,Silent,Silent,Silent,Missense_T828M,Silent exm454445 5 52370248 [A/G] NR_073104,NR_073106,NR_073105,NR_073107,NM_002203,NR_073103 ITGA2,ITGA2,ITGA2,ITGA2,ITGA2,ITGA2 EXON Silent,Silent,Silent,Silent,Missense_A869T,Silent exm454446 5 52370251 [T/C] NR_073104,NR_073106,NR_073105,NR_073107,NM_002203,NR_073103 ITGA2,ITGA2,ITGA2,ITGA2,ITGA2,ITGA2 EXON Silent,Silent,Silent,Silent,Missense_S870P,Silent exm454447 5 52370900 [A/C] NR_073104,NR_073106,NR_073105,NR_073107,NM_002203,NR_073103 ITGA2,ITGA2,ITGA2,ITGA2,ITGA2,ITGA2 EXON Silent,Silent,Silent,Silent,Missense_T892P,Silent exm454448 5 52370904 [T/C] NR_073104,NR_073106,NR_073105,NR_073107,NM_002203,NR_073103 ITGA2,ITGA2,ITGA2,ITGA2,ITGA2,ITGA2 EXON Silent,Silent,Silent,Silent,Missense_I893T,Silent exm454454 5 52371089 [A/G] NR_073104,NR_073106,NR_073105,NR_073107,NM_002203,NR_073103 ITGA2,ITGA2,ITGA2,ITGA2,ITGA2,ITGA2 EXON Silent,Silent,Silent,Silent,Missense_N927S,Silent exm2242539 5 52374670 [A/G] NR_073104,NR_073106,NR_073105,NR_073107,NM_002203,NR_073103 ITGA2,ITGA2,ITGA2,ITGA2,ITGA2,ITGA2 EXON Silent,Silent,Silent,Silent,Missense_E965G,Silent exm454462 5 52376415 [A/C] NR_073104,NR_073106,NR_073105,NR_073107,NM_002203,NR_073103 ITGA2,ITGA2,ITGA2,ITGA2,ITGA2,ITGA2 EXON Silent,Silent,Silent,Silent,Missense_N1001K,Silent exm454465 5 52376446 [A/G] NR_073104,NR_073106,NR_073105,NR_073107,NM_002203,NR_073103 ITGA2,ITGA2,ITGA2,ITGA2,ITGA2,ITGA2 EXON Silent,Silent,Silent,Silent,Missense_D1012N,Silent exm454484 5 52385806 [A/C] NR_073104,NR_073106,NR_073105,NR_073107,NM_002203,NR_073103 ITGA2,ITGA2,ITGA2,ITGA2,ITGA2,ITGA2 EXON Silent,Silent,Silent,Silent,Missense_K1127Q,Silent exm454489 5 52386352 [A/G] NR_073104,NR_073106,NR_073105,NR_073107,NM_002203,NR_073103 ITGA2,ITGA2,ITGA2,ITGA2,ITGA2,ITGA2 EXON Silent,Silent,Silent,Silent,Missense_G1157S,Silent exm454490 5 52386401 [T/C] NR_073104,NR_073106,NR_073105,NR_073107,NM_002203,NR_073103 ITGA2,ITGA2,ITGA2,ITGA2,ITGA2,ITGA2 EXON Silent,Silent,Silent,Silent,Missense_I1173T,Silent exm454495 5 52394439 [T/C] NM_176806,NM_004531 MOCS2,MOCS2 EXON Silent,Missense_N187S exm454503 5 52396282 [T/C] NM_176806,NM_004531 MOCS2,MOCS2 EXON Silent,Missense_A154T exm454510 5 52397199 [A/G] NM_176806,NM_004531 MOCS2,MOCS2 EXON Silent,Missense_H123Y exm454516 5 52397270 [A/G] NM_176806,NM_004531 MOCS2,MOCS2 EXON Silent,Missense_A99V exm454519 5 52397337 [T/C] NM_176806,NM_004531 MOCS2,MOCS2 EXON Silent,Missense_T77A exm454520 5 52397944 [A/G] NM_176806,NM_004531 MOCS2,MOCS2 EXON Silent,Missense_A70V exm454523 5 52398005 [T/C] NM_176806,NM_004531 MOCS2,MOCS2 EXON Silent,Missense_T50A exm454526 5 52398045 [T/C] NM_176806,NM_004531 MOCS2,MOCS2 EXON Silent,Missense_M36I exm454527 5 52398049 [T/C] NM_176806,NM_004531 MOCS2,MOCS2 EXON Silent,Missense_D35G exm454535 5 52402952 [A/G] NM_176806,NM_004531 MOCS2,MOCS2 EXON Synonymous_A80A,Missense_P18L exm454537 5 52403014 [A/G] NM_176806,NM_004531 MOCS2,MOCS2 EXON Missense_R60C,Silent exm2242542 5 52403040 [A/G] NM_176806,NM_004531 MOCS2,MOCS2 EXON Missense_V51A,Silent exm2270203 5 52464757 [T/C] exm2270051 5 52550580 [T/C] exm454548 5 52776673 [T/C] NM_006350,NM_013409 FST,FST EXON Missense_L18F,Missense_L18F exm454575 5 52779983 [A/G] NM_006350,NM_013409 FST,FST EXON Missense_R194Q,Missense_R194Q exm454592 5 52781840 [A/G] NM_006350,NM_013409 FST,FST EXON Silent,Missense_I338V exm454597 5 52856497 [A/C] NM_002495 NDUFS4 EXON Missense_A2E exm454598 5 52856502 [G/C] NM_002495 NDUFS4 EXON Missense_V4L exm454600 5 52856505 [T/C] NM_002495 NDUFS4 EXON Missense_S5P exm454605 5 52856572 [T/A] NM_002495 NDUFS4 EXON Missense_V27D exm2275224 5 52899282 [T/G] NM_002495 NDUFS4 EXON Missense_R33S exm454630 5 52978992 [A/T] NM_002495 NDUFS4 EXON Missense_S157T exm454633 5 52979037 [T/G] NM_002495 NDUFS4 EXON Missense_V172L exm2270052 5 53256679 [T/G] NM_019087 ARL15 Silent exm-rs6450176 5 53298025 [A/G] NM_019087 ARL15 Silent exm-rs4311394 5 53300662 [A/G] NM_019087 ARL15 Silent exm-rs35952 5 53592163 [T/C] NM_019087 ARL15 Silent exm2261941 5 53690669 [T/C] exm454663 5 53751640 [T/G] NM_006308 HSPB3 EXON Missense_R7S exm454670 5 53751818 [A/G] NM_006308 HSPB3 EXON Missense_G67S exm454674 5 53751890 [A/G] NM_006308 HSPB3 EXON Missense_E91K exm2275798 5 53751966 [A/G] NM_006308 HSPB3 EXON Missense_R116Q exm454678 5 53751974 [A/G] NM_006308 HSPB3 EXON Missense_K119E exm454704 5 53814428 [A/C] NM_001145427,NM_001102575,NM_052870 SNX18,SNX18,SNX18 EXON Missense_P216T,Missense_P216T,Missense_P216T exm454706 5 53814452 [A/G] NM_001145427,NM_001102575,NM_052870 SNX18,SNX18,SNX18 EXON Missense_T224A,Missense_T224A,Missense_T224A exm454728 5 53814936 [T/C] NM_001145427,NM_001102575,NM_052870 SNX18,SNX18,SNX18 EXON Missense_T385I,Missense_T385I,Missense_T385I exm454731 5 53814995 [G/C] NM_001145427,NM_001102575,NM_052870 SNX18,SNX18,SNX18 EXON Missense_A405P,Missense_A405P,Missense_A405P exm2101528 5 53815191 [C/G] NM_001145427,NM_001102575,NM_052870 SNX18,SNX18,SNX18 EXON Missense_S470C,Missense_S470C,Missense_S470C exm2257266 5 53815240 [C/G] NM_001145427,NM_001102575,NM_052870 SNX18,SNX18,SNX18 EXON Synonymous_S486S,Synonymous_S486S,Synonymous_S486S exm454752 5 53815413 [A/G] NM_001145427,NM_001102575,NM_052870 SNX18,SNX18,SNX18 EXON Nonsense_W544X,Silent,Nonsense_W544X exm454755 5 53815495 [A/C] NM_001145427,NM_001102575,NM_052870 SNX18,SNX18,SNX18 EXON Missense_E571D,Silent,Missense_E571D exm454758 5 53815525 [T/A] NM_001145427,NM_001102575,NM_052870 SNX18,SNX18,SNX18 EXON Missense_R581S,Silent,Missense_R581S exm454760 5 53815560 [A/C] NM_001145427,NM_001102575,NM_052870 SNX18,SNX18,SNX18 EXON Silent,Silent,Missense_K593T exm454763 5 53815653 [T/C] NM_001145427,NM_001102575,NM_052870 SNX18,SNX18,SNX18 EXON Silent,Silent,Missense_T624I exm454774 5 53839197 [A/C] NM_001145427,NM_001102575 SNX18,SNX18 EXON Silent,Missense_I604L exm2257267 5 54019772 [A/G] exm2270205 5 54187813 [T/C] exm454781 5 54275218 [A/G] NM_001135604,NM_007036 ESM1,ESM1 EXON Missense_V116A,Missense_V166A exm454782 5 54275243 [T/C] NM_001135604,NM_007036 ESM1,ESM1 EXON Missense_D108N,Missense_D158N exm454783 5 54277826 [T/C] NM_001135604,NM_007036 ESM1,ESM1 EXON Silent,Synonymous_T150T exm454785 5 54277899 [A/G] NM_001135604,NM_007036 ESM1,ESM1 EXON Silent,Missense_T126M exm454801 5 54281318 [A/G] NM_001135604,NM_007036 ESM1,ESM1 EXON Missense_L10F,Missense_L10F exm454816 5 54326326 [T/G] NM_002104 GZMK EXON Missense_S93A exm2242548 5 54327231 [T/C] NM_002104 GZMK EXON Missense_L135F exm454825 5 54327290 [A/G] NM_002104 GZMK EXON Nonsense_W154X exm454829 5 54327334 [A/G] NM_002104 GZMK EXON Missense_R169Q exm454838 5 54329597 [A/C] NM_002104 GZMK EXON Missense_D213A exm454839 5 54329605 [A/G] NM_002104 GZMK EXON Missense_G216S exm454840 5 54329623 [T/G] NM_002104 GZMK EXON Missense_G222C exm454846 5 54329675 [A/C] NM_002104 GZMK EXON Missense_K239T exm454853 5 54398580 [T/G] NM_006144 GZMA EXON Missense_D24Y exm454863 5 54403737 [T/C] NM_006144 GZMA EXON Missense_R111C exm454864 5 54403957 [T/C] NM_006144 GZMA EXON Missense_M121T exm454868 5 54404053 [T/G] NM_006144 GZMA EXON Missense_W153L exm2101570 5 54404085 [A/G] NM_006144 GZMA EXON Missense_D164N exm454873 5 54404110 [T/C] NM_006144 GZMA EXON Missense_T172I exm454875 5 54404140 [A/G] NM_006144 GZMA EXON Missense_R182Q exm454879 5 54404173 [T/C] NM_006144 GZMA EXON Missense_M193T exm454880 5 54404178 [A/G] NM_006144 GZMA EXON Missense_M195V exm454881 5 54404191 [A/G] NM_006144 GZMA EXON Missense_G199E exm454885 5 54405889 [A/G] NM_006144 GZMA EXON Missense_R223Q exm454886 5 54405933 [T/C] NM_006144 GZMA EXON Missense_R238C exm454888 5 54405999 [A/G] NM_006144 GZMA EXON Missense_G260R exm454891 5 54410065 [A/G] NM_001170402,NM_001145734,NM_152623 CDC20B,CDC20B,CDC20B EXON Missense_S514F,Missense_S472F,Missense_S510F exm454893 5 54410099 [A/G] NM_001170402,NM_001145734,NM_152623 CDC20B,CDC20B,CDC20B EXON Missense_R503W,Missense_R461W,Missense_R499W exm2101579 5 54415664 [A/G] NM_001170402,NM_001145734,NM_152623 CDC20B,CDC20B,CDC20B EXON Missense_T475I,Missense_T433I,Missense_T475I exm454903 5 54416315 [A/G] NM_001170402,NM_001145734,NM_152623 CDC20B,CDC20B,CDC20B EXON Missense_R427C,Silent,Missense_R427C exm454913 5 54420707 [A/G] NM_001170402,NM_001145734,NM_152623 CDC20B,CDC20B,CDC20B EXON Missense_T380I,Missense_T380I,Missense_T380I exm454916 5 54420789 [A/G] NM_001170402,NM_001145734,NM_152623 CDC20B,CDC20B,CDC20B EXON Missense_R353C,Missense_R353C,Missense_R353C exm454923 5 54423154 [T/C] NM_001170402,NM_001145734,NM_152623 CDC20B,CDC20B,CDC20B EXON Missense_R307Q,Missense_R307Q,Missense_R307Q exm454924 5 54423155 [A/G] NM_001170402,NM_001145734,NM_152623 CDC20B,CDC20B,CDC20B EXON Missense_R307W,Missense_R307W,Missense_R307W exm454926 5 54424263 [T/C] NM_001170402,NM_001145734,NM_152623 CDC20B,CDC20B,CDC20B EXON Missense_E294K,Missense_E294K,Missense_E294K exm454929 5 54424296 [T/C] NM_001170402,NM_001145734,NM_152623 CDC20B,CDC20B,CDC20B EXON Missense_K283E,Missense_K283E,Missense_K283E exm454930 5 54424334 [A/C] NM_001170402,NM_001145734,NM_152623 CDC20B,CDC20B,CDC20B EXON Missense_S270I,Missense_S270I,Missense_S270I exm2275371 5 54429252 [A/G] NM_001170402,NM_001145734,NM_152623 CDC20B,CDC20B,CDC20B EXON Nonsense_R229X,Nonsense_R229X,Nonsense_R229X exm454936 5 54429294 [A/G] NM_001170402,NM_001145734,NM_152623 CDC20B,CDC20B,CDC20B EXON Missense_S215P,Missense_S215P,Missense_S215P exm454945 5 54439339 [A/G] NM_001170402,NM_001145734,NM_152623 CDC20B,CDC20B,CDC20B Silent,Silent,Silent exm454946 5 54439342 [T/G] NM_001170402,NM_001145734,NM_152623 CDC20B,CDC20B,CDC20B EXON Missense_Q162P,Missense_Q162P,Missense_Q162P exm454948 5 54439399 [T/C] NM_001170402,NM_001145734,NM_152623 CDC20B,CDC20B,CDC20B EXON Missense_C143Y,Missense_C143Y,Missense_C143Y exm454949 5 54439466 [A/G] NM_001170402,NM_001145734,NM_152623 CDC20B,CDC20B,CDC20B EXON Missense_R121C,Missense_R121C,Missense_R121C exm454953 5 54442491 [A/T] NM_001170402,NM_001145734,NM_152623 CDC20B,CDC20B,CDC20B EXON Missense_L107Q,Missense_L107Q,Missense_L107Q exm454955 5 54442522 [T/A] NM_001170402,NM_001145734,NM_152623 CDC20B,CDC20B,CDC20B EXON Missense_T97S,Missense_T97S,Missense_T97S exm454962 5 54456067 [T/C] NM_001170402,NM_001145734,NM_152623,NM_001008397 CDC20B,CDC20B,CDC20B,GPX8 EXON Silent,Silent,Silent,Missense_A16V exm454978 5 54459961 [A/G] NM_001170402,NM_001145734,NM_152623,NM_001008397 CDC20B,CDC20B,CDC20B,GPX8 EXON Silent,Silent,Silent,Missense_K182R exm454994 5 54468450 [T/C] NM_001170402,NM_001145734,NM_152623 CDC20B,CDC20B,CDC20B EXON Missense_D31G,Missense_D31G,Missense_D31G exm454995 5 54468788 [T/C] NM_001170402,NM_001145734,NM_152623 CDC20B,CDC20B,CDC20B EXON Missense_R14H,Missense_R14H,Missense_R14H exm2242552 5 54516531 [T/C] NM_001190787 MCIN EXON Missense_G274E exm455008 5 54527249 [A/G] NM_021147 CCNO EXON Missense_P336L exm455009 5 54527254 [G/C] NM_021147 CCNO EXON Missense_M334I exm455014 5 54527306 [A/G] NM_021147 CCNO EXON Missense_M317T exm455016 5 54527316 [T/C] NM_021147 CCNO EXON Missense_E314K exm455019 5 54527466 [C/G] NM_021147 CCNO EXON Missense_G264R exm455028 5 54527571 [T/C] NM_021147 CCNO EXON Missense_G229S exm455044 5 54529088 [A/C] NM_021147 CCNO EXON Missense_Q88H exm455051 5 54529218 [T/G] NM_021147 CCNO EXON Missense_P45H exm455053 5 54529245 [T/C] NM_021147 CCNO EXON Missense_R36H exm455074 5 54558510 [A/G] NM_019030 DHX29 EXON Missense_S1259F exm455081 5 54563027 [T/C] NM_019030 DHX29 EXON Missense_R1155H exm455117 5 54570823 [G/C] NM_019030 DHX29 EXON Missense_Q815E exm455121 5 54572102 [T/G] NM_019030 DHX29 EXON Missense_K807Q exm455137 5 54579038 [C/G] NM_019030 DHX29 EXON Missense_G653A exm455149 5 54579267 [A/G] NM_019030 DHX29 EXON Missense_H577Y exm455151 5 54579372 [T/C] NM_019030 DHX29 EXON Missense_N542D exm455169 5 54585122 [A/C] NM_019030 DHX29 EXON Missense_A348S exm455176 5 54585213 [T/C] NM_019030 DHX29 EXON Missense_M317I exm2101678 5 54585248 [T/C] NM_019030 DHX29 EXON Missense_T306A exm455177 5 54586048 [T/C] NM_019030 DHX29 EXON Missense_R302K exm455183 5 54589848 [T/G] NM_019030 DHX29 EXON Missense_D259E exm455192 5 54591229 [T/C] NM_019030 DHX29 EXON Missense_Y210C exm455193 5 54591272 [T/G] NM_019030 DHX29 EXON Missense_Q196K exm455200 5 54594429 [T/G] NM_019030 DHX29 EXON Missense_S84Y exm2270053 5 54603822 [T/C] NM_015360 SKIV2L2 EXON Silent exm455227 5 54618225 [A/G] NM_015360 SKIV2L2 EXON Missense_E69K exm455231 5 54618286 [A/G] NM_015360 SKIV2L2 EXON Missense_D89G exm455247 5 54635872 [T/C] NM_015360 SKIV2L2 EXON Missense_R184C exm455263 5 54645457 [A/G] NM_015360 SKIV2L2 EXON Missense_D433N exm455268 5 54646772 [A/G] NM_015360 SKIV2L2 EXON Missense_K449R exm455281 5 54674177 [C/G] NM_015360 SKIV2L2 EXON Missense_V616L exm455286 5 54674967 [A/G] NM_015360 SKIV2L2 EXON Missense_G666R exm455288 5 54683850 [T/C] NM_015360 SKIV2L2 EXON Missense_R701C exm2101777 5 54696117 [A/G] NM_015360 SKIV2L2 EXON Missense_M783I exm455313 5 54710038 [A/G] NM_015360 SKIV2L2 EXON Missense_Q927R exm455331 5 54721105 [T/C] NM_015360,NM_003711,NM_176895 SKIV2L2,PPAP2A,PPAP2A EXON Silent,Missense_E262K,Missense_E263K exm455349 5 54763925 [G/C] NM_003711,NM_176895 PPAP2A,PPAP2A EXON Missense_S88C,Missense_S89C exm455352 5 54771129 [T/C] NM_003711,NM_176895 PPAP2A,PPAP2A EXON Missense_V70I,Silent exm455360 5 54786796 [T/C] NM_003711,NM_176895 PPAP2A,PPAP2A EXON Silent,Missense_I69V exm455367 5 54786907 [A/T] NM_003711,NM_176895 PPAP2A,PPAP2A EXON Silent,Missense_I32L exm455368 5 54786922 [C/G] NM_003711,NM_176895 PPAP2A,PPAP2A EXON Silent,Missense_L27V exm455384 5 54922404 [T/C] NM_001258286,NR_047650,NM_001258287,NM_173514,NR_047649 SLC38A9,SLC38A9,SLC38A9,SLC38A9,SLC38A9 EXON Missense_R472H,Silent,Missense_R472H,Missense_R535H,Silent exm455390 5 54923792 [T/C] NM_001258286,NR_047650,NM_001258287,NM_173514,NR_047649 SLC38A9,SLC38A9,SLC38A9,SLC38A9,SLC38A9 EXON Missense_I420V,Silent,Missense_I420V,Missense_I483V,Silent exm455395 5 54929694 [A/G] NM_001258286,NR_047650,NM_001258287,NM_173514,NR_047649 SLC38A9,SLC38A9,SLC38A9,SLC38A9,SLC38A9 EXON Missense_S377P,Silent,Missense_S377P,Missense_S440P,Silent exm455401 5 54941617 [A/G] NM_001258286,NR_047650,NM_001258287,NM_173514,NR_047649 SLC38A9,SLC38A9,SLC38A9,SLC38A9,SLC38A9 EXON Synonymous_N326N,Silent,Synonymous_N326N,Synonymous_N389N,Silent exm455404 5 54941640 [T/C] NM_001258286,NR_047650,NM_001258287,NM_173514,NR_047649 SLC38A9,SLC38A9,SLC38A9,SLC38A9,SLC38A9 EXON Missense_N319D,Silent,Missense_N319D,Missense_N382D,Silent exm455406 5 54941697 [T/A] NM_001258286,NR_047650,NM_001258287,NM_173514,NR_047649 SLC38A9,SLC38A9,SLC38A9,SLC38A9,SLC38A9 EXON Missense_T300S,Silent,Missense_T300S,Missense_T363S,Silent exm455408 5 54941710 [C/G] NM_001258286,NR_047650,NM_001258287,NM_173514,NR_047649 SLC38A9,SLC38A9,SLC38A9,SLC38A9,SLC38A9 EXON Missense_Q295H,Silent,Missense_Q295H,Missense_Q358H,Silent exm455411 5 54945091 [T/C] NM_001258286,NR_047650,NM_001258287,NM_173514,NR_047649 SLC38A9,SLC38A9,SLC38A9,SLC38A9,SLC38A9 EXON Missense_R272H,Silent,Silent,Missense_R335H,Silent exm455421 5 54952593 [T/C] NM_001258286,NR_047650,NM_001258287,NM_173514,NR_047649 SLC38A9,SLC38A9,SLC38A9,SLC38A9,SLC38A9 EXON Missense_H173R,Silent,Missense_H209R,Missense_H236R,Silent exm455427 5 54960596 [A/G] NM_001258286,NR_047650,NM_001258287,NM_173514,NR_047649 SLC38A9,SLC38A9,SLC38A9,SLC38A9,SLC38A9 EXON Missense_S145P,Silent,Missense_S181P,Missense_S208P,Silent exm2257272 5 54960609 [A/G] NM_001258286,NR_047650,NM_001258287,NM_173514,NR_047649 SLC38A9,SLC38A9,SLC38A9,SLC38A9,SLC38A9 EXON Synonymous_L140L,Silent,Synonymous_L176L,Synonymous_L203L,Silent exm455429 5 54960609 [A/G] NM_001258286,NR_047650,NM_001258287,NM_173514,NR_047649 SLC38A9,SLC38A9,SLC38A9,SLC38A9,SLC38A9 EXON Synonymous_L140L,Silent,Synonymous_L176L,Synonymous_L203L,Silent exm455436 5 54960673 [G/C] NM_001258286,NR_047650,NM_001258287,NM_173514,NR_047649 SLC38A9,SLC38A9,SLC38A9,SLC38A9,SLC38A9 EXON Missense_S119T,Silent,Missense_S155T,Missense_S182T,Silent exm455461 5 54993761 [T/C] NR_047650,NM_173514 SLC38A9,SLC38A9 EXON Silent,Missense_R9K exm-rs11958779 5 55001899 [A/G] NR_047650,NM_173514 SLC38A9,SLC38A9 Silent,Silent exm2101839 5 55034832 [T/G] NM_001166533,NM_001142549,NM_024415 DDX4,DDX4,DDX4 EXON Missense_M14R,Missense_M14R,Missense_M14R exm455479 5 55062760 [A/G] NM_001166533,NM_001142549,NM_024415,NM_001166534 DDX4,DDX4,DDX4,DDX4 EXON Silent,Silent,Silent,Missense_M1I exm455480 5 55062764 [T/C] NM_001166533,NM_001142549,NM_024415,NM_001166534 DDX4,DDX4,DDX4,DDX4 EXON Silent,Silent,Silent,Missense_S3P exm455483 5 55063738 [A/G] NM_001166533,NM_001142549,NM_024415,NM_001166534 DDX4,DDX4,DDX4,DDX4 EXON Silent,Missense_T122A,Missense_T122A,Missense_T23A exm2242574 5 55063760 [A/G] NM_001166533,NM_001142549,NM_024415,NM_001166534 DDX4,DDX4,DDX4,DDX4 EXON Silent,Missense_K129R,Missense_K129R,Missense_K30R exm455492 5 55075860 [A/G] NM_001166533,NM_001142549,NM_024415,NM_001166534 DDX4,DDX4,DDX4,DDX4 EXON Missense_G135S,Silent,Missense_G155S,Silent exm455500 5 55076956 [A/C] NM_001166533,NM_001142549,NM_024415,NM_001166534 DDX4,DDX4,DDX4,DDX4 EXON Missense_P167T,Missense_P153T,Missense_P187T,Missense_P54T exm455510 5 55081662 [T/C] NM_001166533,NM_001142549,NM_024415,NM_001166534 DDX4,DDX4,DDX4,DDX4 EXON Missense_V256A,Missense_V242A,Missense_V276A,Missense_V127A exm455511 5 55081694 [A/G] NM_001166533,NM_001142549,NM_024415,NM_001166534 DDX4,DDX4,DDX4,DDX4 EXON Missense_I267V,Missense_I253V,Missense_I287V,Missense_I138V exm455523 5 55083744 [T/C] NM_001166533,NM_001142549,NM_024415,NM_001166534 DDX4,DDX4,DDX4,DDX4 EXON Missense_L343S,Missense_L329S,Missense_L363S,Missense_L214S exm455531 5 55086523 [A/G] NM_001166533,NM_001142549,NM_024415,NM_001166534 DDX4,DDX4,DDX4,DDX4 EXON Missense_G411D,Missense_G397D,Missense_G431D,Missense_G282D exm455533 5 55088486 [G/C] NM_001166533,NM_001142549,NM_024415,NM_001166534 DDX4,DDX4,DDX4,DDX4 EXON Missense_I420M,Missense_I406M,Missense_I440M,Missense_I291M exm455537 5 55088580 [A/G] NM_001166533,NM_001142549,NM_024415,NM_001166534 DDX4,DDX4,DDX4,DDX4 EXON Missense_K452E,Missense_K438E,Missense_K472E,Missense_K323E exm455562 5 55112340 [A/G] NM_001166533,NM_001142549,NM_024415,NM_001166534 DDX4,DDX4,DDX4,DDX4 EXON Missense_N696S,Missense_N682S,Missense_N716S,Missense_N567S exm2270054 5 55139267 [T/C] exm455567 5 55147418 [A/G] NM_139017,NM_001242638,NM_001242637 IL31RA,IL31RA,IL31RA EXON Missense_K7R,Silent,Missense_K7R exm455571 5 55147452 [A/G] NM_139017,NM_001242638,NM_001242637 IL31RA,IL31RA,IL31RA EXON Synonymous_P18P,Silent,Synonymous_P18P exm455572 5 55147460 [T/C] NM_139017,NM_001242638,NM_001242637 IL31RA,IL31RA,IL31RA EXON Missense_I21T,Silent,Missense_I21T exm455576 5 55155404 [T/C] NM_139017,NM_001242638,NM_001242637,NM_001242639,NM_001242636 IL31RA,IL31RA,IL31RA,IL31RA,IL31RA EXON Missense_S44L,Missense_S25L,Missense_S44L,Silent,Missense_S25L exm455579 5 55164697 [A/C] NM_139017,NM_001242638,NM_001242637,NM_001242639,NM_001242636 IL31RA,IL31RA,IL31RA,IL31RA,IL31RA EXON Missense_K78T,Missense_K59T,Missense_K78T,Silent,Missense_K59T exm455585 5 55168132 [A/G] NM_139017,NM_001242638,NM_001242637,NM_001242639,NM_001242636 IL31RA,IL31RA,IL31RA,IL31RA,IL31RA EXON Missense_N103D,Missense_N84D,Missense_N103D,Silent,Missense_N84D exm455587 5 55168187 [T/C] NM_139017,NM_001242638,NM_001242637,NM_001242639,NM_001242636 IL31RA,IL31RA,IL31RA,IL31RA,IL31RA EXON Missense_T121M,Missense_T102M,Missense_T121M,Silent,Missense_T102M exm455590 5 55168252 [A/G] NM_139017,NM_001242638,NM_001242637,NM_001242639,NM_001242636 IL31RA,IL31RA,IL31RA,IL31RA,IL31RA EXON Missense_M143V,Missense_M124V,Missense_M143V,Missense_M1V,Missense_M124V exm455597 5 55178963 [A/G] NM_139017,NM_001242638,NM_001242637,NM_001242639,NM_001242636 IL31RA,IL31RA,IL31RA,IL31RA,IL31RA EXON Synonymous_A182A,Synonymous_A163A,Synonymous_A182A,Synonymous_A40A,Synonymous_A163A exm455600 5 55179007 [T/A] NM_139017,NM_001242638,NM_001242637,NM_001242639,NM_001242636 IL31RA,IL31RA,IL31RA,IL31RA,IL31RA EXON Missense_V197D,Missense_V178D,Missense_V197D,Missense_V55D,Missense_V178D exm455609 5 55185900 [A/G] NM_139017,NM_001242638,NM_001242637,NM_001242639,NM_001242636 IL31RA,IL31RA,IL31RA,IL31RA,IL31RA EXON Missense_V237I,Missense_V218I,Missense_V237I,Missense_V95I,Missense_V218I exm455645 5 55204174 [A/G] NM_139017,NM_001242638,NM_001242637,NM_001242639,NM_001242636 IL31RA,IL31RA,IL31RA,IL31RA,IL31RA EXON Missense_S479N,Missense_S460N,Missense_S479N,Missense_S337N,Missense_S460N exm455658 5 55206398 [A/G] NM_139017,NM_001242638,NM_001242637,NM_001242639,NM_001242636 IL31RA,IL31RA,IL31RA,IL31RA,IL31RA EXON Missense_E514K,Missense_E495K,Missense_E514K,Missense_E372K,Missense_E495K exm455661 5 55206444 [A/G] NM_139017,NM_001242638,NM_001242637,NM_001242639,NM_001242636 IL31RA,IL31RA,IL31RA,IL31RA,IL31RA EXON Missense_S529N,Missense_S510N,Missense_S529N,Missense_S387N,Missense_S510N exm455669 5 55210703 [A/G] NM_139017,NM_001242638,NM_001242637,NM_001242639,NM_001242636 IL31RA,IL31RA,IL31RA,IL31RA,IL31RA EXON Missense_V589I,Missense_V570I,Missense_V589I,Missense_V447I,Missense_V570I exm2101913 5 55212601 [A/G] NM_139017,NM_001242638,NM_001242637,NM_001242639,NM_001242636 IL31RA,IL31RA,IL31RA,IL31RA,IL31RA EXON Missense_E650K,Missense_E631K,Missense_E650K,Missense_E508K,Missense_E631K exm455676 5 55212626 [T/C] NM_139017,NM_001242638,NM_001242637,NM_001242639,NM_001242636 IL31RA,IL31RA,IL31RA,IL31RA,IL31RA EXON Missense_T658M,Missense_T639M,Missense_T658M,Missense_T516M,Missense_T639M exm455681 5 55212675 [T/C] NM_139017,NM_001242638,NM_001242637,NM_001242639,NM_001242636 IL31RA,IL31RA,IL31RA,IL31RA,IL31RA EXON Synonymous_C674C,Silent,Silent,Synonymous_C532C,Synonymous_C655C exm455686 5 55212796 [A/G] NM_139017,NM_001242638,NM_001242637,NM_001242639,NM_001242636 IL31RA,IL31RA,IL31RA,IL31RA,IL31RA EXON Missense_A715T,Silent,Silent,Missense_A573T,Missense_A696T exm455700 5 55237014 [T/C] NM_002184,NM_001190981,NM_175767 IL6ST,IL6ST,IL6ST EXON Missense_V885I,Missense_V824I,Silent exm455709 5 55237432 [A/C] NM_002184,NM_001190981,NM_175767 IL6ST,IL6ST,IL6ST EXON Missense_D745E,Missense_D684E,Silent exm2242578 5 55247795 [T/A] NM_002184,NM_001190981,NM_175767 IL6ST,IL6ST,IL6ST EXON Missense_Y554F,Missense_Y493F,Silent exm455736 5 55248135 [T/C] NM_002184,NM_001190981,NM_175767 IL6ST,IL6ST,IL6ST EXON Missense_V499I,Missense_V438I,Silent exm455741 5 55250727 [A/G] NM_002184,NM_001190981,NM_175767 IL6ST,IL6ST,IL6ST EXON Missense_I454T,Silent,Silent exm455742 5 55250787 [C/G] NM_002184,NM_001190981,NM_175767 IL6ST,IL6ST,IL6ST EXON Missense_P434R,Silent,Silent exm455747 5 55251931 [G/C] NM_002184,NM_001190981,NM_175767 IL6ST,IL6ST,IL6ST EXON Missense_L397V,Missense_L397V,Silent exm455751 5 55251987 [T/C] NM_002184,NM_001190981,NM_175767 IL6ST,IL6ST,IL6ST EXON Missense_Q378R,Missense_Q378R,Silent exm2101934 5 55252055 [A/T] NM_002184,NM_001190981,NM_175767 IL6ST,IL6ST,IL6ST EXON Synonymous_P355P,Synonymous_P355P,Missense_S328T exm455752 5 55252056 [A/G] NM_002184,NM_001190981,NM_175767 IL6ST,IL6ST,IL6ST EXON Missense_P355L,Missense_P355L,Synonymous_A327A exm455753 5 55253045 [T/C] NM_002184,NM_001190981,NM_175767 IL6ST,IL6ST,IL6ST EXON Missense_V350M,Missense_V350M,Silent exm455759 5 55256305 [A/G] NM_002184,NM_001190981,NM_175767 IL6ST,IL6ST,IL6ST EXON Missense_R300C,Missense_R300C,Missense_R300C exm455766 5 55259272 [T/C] NM_002184,NM_001190981,NM_175767 IL6ST,IL6ST,IL6ST EXON Missense_K241E,Missense_K241E,Missense_K241E exm455786 5 55265522 [T/C] NM_002184,NM_001190981,NM_175767 IL6ST,IL6ST,IL6ST EXON Missense_K76E,Missense_K76E,Missense_K76E exm455789 5 55272085 [C/G] NM_002184,NM_001190981,NM_175767 IL6ST,IL6ST,IL6ST EXON Missense_L8V,Missense_L8V,Missense_L8V exm455796 5 55396074 [T/C] NM_024669 ANKRD55 EXON Missense_R594Q exm455797 5 55396075 [A/G] NM_024669 ANKRD55 EXON Nonsense_R594X exm2266082 5 55401335 [A/G] NM_024669 ANKRD55 Silent exm455805 5 55406966 [A/G] NM_024669 ANKRD55 EXON Missense_H537Y exm455807 5 55406990 [A/C] NM_024669 ANKRD55 EXON Missense_V529F exm2101961 5 55407007 [T/C] NM_024669 ANKRD55 EXON Missense_R523Q exm455817 5 55407268 [T/C] NM_024669 ANKRD55 EXON Missense_S436N exm455821 5 55407449 [A/G] NM_024669 ANKRD55 EXON Missense_S376P exm455824 5 55407523 [A/C] NM_024669 ANKRD55 EXON Missense_C351F exm455826 5 55407542 [T/C] NM_024669 ANKRD55 EXON Missense_V345M exm455827 5 55407551 [A/G] NM_024669 ANKRD55 EXON Missense_R342W exm455828 5 55407572 [A/G] NM_024669 ANKRD55 EXON Missense_R335W exm455832 5 55412458 [A/G] NM_024669 ANKRD55 EXON Missense_L317F exm455834 5 55412476 [T/C] NM_024669 ANKRD55 EXON Missense_T311A exm-rs415407 5 55414956 [A/C] NM_024669 ANKRD55 Silent exm455847 5 55422877 [T/C] NM_024669 ANKRD55 EXON Missense_I223M exm-rs6859219 5 55438580 [A/C] NM_024669 ANKRD55 Silent exm455859 5 55439718 [A/C] NM_024669 ANKRD55 EXON Missense_Q174H exm455874 5 55466608 [T/C] NM_024669 ANKRD55 EXON Missense_S112N exm2101975 5 55472007 [T/C] NM_024669 ANKRD55 EXON Missense_R95H exm455885 5 55479405 [C/G] NM_024669 ANKRD55 EXON Missense_D39H exm-rs1020388 5 55560027 [T/G] exm-rs459193 5 55806751 [A/G] exm-rs6867983 5 55854153 [T/C] exm-rs9686661 5 55861786 [T/C] exm2265942 5 55930580 [A/G] exm-rs889312 5 56031884 [A/C] exm455914 5 56155618 [A/G] NM_005921 MAP3K1 EXON Missense_Q237R exm455915 5 56155625 [T/G] NM_005921 MAP3K1 EXON Missense_S239R exm455919 5 56155651 [A/G] NM_005921 MAP3K1 EXON Missense_R248Q exm455921 5 56155672 [A/G] NM_005921 MAP3K1 EXON Missense_N255S exm455932 5 56161239 [T/C] NM_005921 MAP3K1 EXON Missense_P370S exm455953 5 56171018 [A/G] NM_005921 MAP3K1 EXON Missense_G616R exm455954 5 56171084 [A/G] NM_005921 MAP3K1 EXON Missense_V638I exm2257275 5 56171125 [T/C] NM_005921 MAP3K1 EXON Synonymous_Y651Y exm455957 5 56174853 [T/C] NM_005921 MAP3K1 EXON Missense_A671V exm455972 5 56177443 [A/G] NM_005921 MAP3K1 EXON Missense_D806N exm455973 5 56177458 [A/G] NM_005921 MAP3K1 EXON Missense_M811V exm2257276 5 56177625 [T/C] NM_005921 MAP3K1 EXON Synonymous_A866A exm2101996 5 56177644 [A/G] NM_005921 MAP3K1 EXON Missense_V873I exm2274072 5 56177692 [G/C] NM_005921 MAP3K1 EXON Missense_V889L exm455982 5 56177743 [A/G] NM_005921 MAP3K1 EXON Missense_V906I exm455991 5 56177843 [G/C] NM_005921 MAP3K1 EXON Missense_S939C exm456007 5 56178352 [A/G] NM_005921 MAP3K1 EXON Missense_D1109N exm456019 5 56178587 [A/C] NM_005921 MAP3K1 EXON Missense_E1187A exm2257277 5 56178618 [A/G] NM_005921 MAP3K1 EXON Synonymous_A1197A exm456040 5 56181845 [A/C] NM_005921 MAP3K1 EXON Missense_L1357I exm456060 5 56205479 [A/G] NM_001171990,NM_153706 SETD9,SETD9 EXON Missense_G3S,Missense_G3S exm456064 5 56205545 [A/G] NM_001171990,NM_153706 SETD9,SETD9 EXON Missense_A25T,Missense_A25T exm2102017 5 56207007 [A/G] NM_001171990,NM_153706 SETD9,SETD9 EXON Missense_Y37C,Missense_Y37C exm456072 5 56207123 [T/A] NM_001171990,NM_153706 SETD9,SETD9 EXON Missense_S76T,Missense_S76T exm456082 5 56207307 [T/G] NM_001171990,NM_153706 SETD9,SETD9 EXON Missense_G137V,Missense_G137V exm456084 5 56207327 [T/G] NM_001171990,NM_153706 SETD9,SETD9 EXON Missense_L144V,Missense_L144V exm2102023 5 56208859 [A/G] NM_001171990,NM_153706 SETD9,SETD9 EXON Missense_E163G,Missense_E163G exm456095 5 56209720 [T/C] NM_001171990,NM_153706 SETD9,SETD9 EXON Nonsense_R204X,Nonsense_R204X exm456097 5 56209735 [A/G] NM_001171990,NM_153706 SETD9,SETD9 EXON Missense_K209E,Missense_K209E exm456113 5 56219010 [T/C] NM_001171990,NM_152622 SETD9,MIER3 EXON Silent,Missense_N532S exm456134 5 56219389 [T/C] NM_001171990,NM_152622 SETD9,MIER3 EXON Silent,Missense_V406I exm456135 5 56219412 [A/G] NM_001171990,NM_152622 SETD9,MIER3 EXON Silent,Missense_A398V exm2242587 5 56226502 [T/C] NM_152622 MIER3 EXON Missense_K273R exm456160 5 56231282 [G/C] NM_152622 MIER3 EXON Missense_L190V exm456175 5 56234763 [T/C] NM_152622 MIER3 EXON Missense_N88D exm456191 5 56526778 [A/G] NM_001203246,NM_022913,NM_001127235,NM_001127236 GPBP1,GPBP1,GPBP1,GPBP1 EXON Silent,Missense_I57V,Missense_I64V,Missense_I64V exm456194 5 56526795 [A/C] NM_001203246,NM_022913,NM_001127235,NM_001127236 GPBP1,GPBP1,GPBP1,GPBP1 EXON Silent,Synonymous_G62G,Synonymous_G69G,Synonymous_G69G exm456196 5 56526970 [A/G] NM_001203246,NM_022913,NM_001127235,NM_001127236 GPBP1,GPBP1,GPBP1,GPBP1 EXON Silent,Missense_R78K,Missense_R85K,Missense_R85K exm456212 5 56542196 [T/C] NM_001203246,NM_022913,NM_001127235,NM_001127236 GPBP1,GPBP1,GPBP1,GPBP1 EXON Missense_L12S,Missense_L183S,Missense_L190S,Missense_L190S exm456214 5 56542226 [A/G] NM_001203246,NM_022913,NM_001127235,NM_001127236 GPBP1,GPBP1,GPBP1,GPBP1 EXON Missense_N22S,Missense_N193S,Missense_N200S,Missense_N200S exm456215 5 56542231 [A/C] NM_001203246,NM_022913,NM_001127235,NM_001127236 GPBP1,GPBP1,GPBP1,GPBP1 EXON Missense_P24T,Missense_P195T,Missense_P202T,Missense_P202T exm456223 5 56542905 [A/G] NM_001203246,NM_022913,NM_001127235,NM_001127236 GPBP1,GPBP1,GPBP1,GPBP1 EXON Missense_T52A,Missense_T223A,Missense_T230A,Missense_T230A exm456227 5 56542978 [T/G] NM_001203246,NM_022913,NM_001127235,NM_001127236 GPBP1,GPBP1,GPBP1,GPBP1 EXON Missense_G76V,Missense_G247V,Missense_G254V,Missense_G254V exm456238 5 56545386 [T/C] NM_001203246,NM_022913,NM_001127235,NM_001127236 GPBP1,GPBP1,GPBP1,GPBP1 EXON Missense_R148C,Missense_R319C,Missense_R311C,Missense_R326C exm456245 5 56558443 [A/G] NM_001203246,NM_022913,NM_001127235,NM_001127236 GPBP1,GPBP1,GPBP1,GPBP1 EXON Missense_K258R,Missense_K429R,Missense_K421R,Missense_K436R exm2273405 5 56558590 [A/G] NM_001203246,NM_022913,NM_001127235,NM_001127236 GPBP1,GPBP1,GPBP1,GPBP1 EXON Silent,Silent,Silent,Silent exm2270206 5 56616664 [T/C] exm2265943 5 56626359 [A/G] exm456255 5 56777481 [T/C] NM_001017992 ACTBL2 EXON Missense_T352A exm456256 5 56777508 [T/C] NM_001017992 ACTBL2 EXON Missense_G343R exm2274073 5 56777676 [A/C] NM_001017992 ACTBL2 EXON Missense_D287Y exm2257280 5 56777839 [A/G] NM_001017992 ACTBL2 EXON Synonymous_A232A exm2242590 5 56777911 [A/C] NM_001017992 ACTBL2 EXON Missense_E208D exm456276 5 56777915 [T/C] NM_001017992 ACTBL2 EXON Missense_R207Q exm456277 5 56777916 [A/G] NM_001017992 ACTBL2 EXON Missense_R207W exm456281 5 56777987 [T/C] NM_001017992 ACTBL2 EXON Missense_G183E exm456285 5 56778035 [T/C] NM_001017992 ACTBL2 EXON Missense_Y167C exm456286 5 56778078 [T/C] NM_001017992 ACTBL2 EXON Missense_V153M exm456287 5 56778093 [A/G] NM_001017992 ACTBL2 EXON Missense_R148W exm456294 5 56778186 [A/G] NM_001017992 ACTBL2 EXON Missense_R117W exm456296 5 56778203 [A/G] NM_001017992 ACTBL2 EXON Missense_L111P exm456297 5 56778213 [T/C] NM_001017992 ACTBL2 EXON Missense_E108K exm456299 5 56778225 [T/C] NM_001017992 ACTBL2 EXON Missense_I104V exm456301 5 56778235 [A/C] NM_001017992 ACTBL2 EXON Missense_D100E exm456313 5 56778405 [T/C] NM_001017992 ACTBL2 EXON Missense_V44I exm456314 5 56778411 [A/G] NM_001017992 ACTBL2 EXON Nonsense_Q42X exm456315 5 56778417 [A/G] NM_001017992 ACTBL2 EXON Nonsense_R40X exm2270056 5 57120319 [T/C] exm-rs1816392 5 57147676 [A/G] exm-rs1844437 5 57320954 [C/G] exm2270057 5 57382310 [T/G] exm456332 5 57751158 [A/G] NM_001252226,NM_006622 PLK2,PLK2 EXON Missense_T556M,Missense_T570M exm456335 5 57751415 [T/C] NM_001252226,NM_006622 PLK2,PLK2 EXON Missense_G512S,Missense_G526S exm2102108 5 57751934 [T/C] NM_001252226,NM_006622 PLK2,PLK2 EXON Missense_V421I,Missense_V435I exm456348 5 57751982 [T/C] NM_001252226,NM_006622 PLK2,PLK2 EXON Missense_E405K,Missense_E419K exm456351 5 57752341 [T/G] NM_001252226,NM_006622 PLK2,PLK2 EXON Missense_P397H,Missense_P411H exm456387 5 57755609 [G/C] NM_001252226,NM_006622 PLK2,PLK2 EXON Silent,Missense_H60D exm456397 5 57755750 [A/C] NM_001252226,NM_006622 PLK2,PLK2 EXON Missense_A13S,Missense_A13S exm456411 5 57790470 [A/G] NM_152687 GAPT EXON Missense_R36H exm456413 5 57790532 [T/C] NM_152687 GAPT EXON Missense_C57R exm456420 5 57790635 [A/G] NM_152687 GAPT EXON Missense_D91G exm456423 5 57790693 [A/T] NM_152687 GAPT EXON Missense_E110D exm456427 5 57790785 [T/C] NM_152687 GAPT EXON Missense_P141L exm456437 5 57913614 [T/C] NM_138453 RAB3C EXON Missense_S57P exm2266083 5 58032485 [A/G] NM_138453 RAB3C Silent exm2270058 5 58095222 [T/C] NM_138453 RAB3C Silent exm456448 5 58120959 [A/G] NM_138453 RAB3C EXON Missense_E156K exm456451 5 58147050 [T/C] NM_138453 RAB3C EXON Missense_R186C exm456453 5 58147096 [T/C] NM_138453 RAB3C EXON Missense_T201I exm456457 5 58147141 [A/C] NM_138453 RAB3C EXON Missense_E216A exm2265944 5 58295014 [A/G] NM_001197222,NM_001197221,NM_001165899,NM_001104631,NM_006203,NM_001197223,NM_001197218,NM_001197220,NM_001197219 PDE4D,PDE4D,PDE4D,PDE4D,PDE4D,PDE4D,PDE4D,PDE4D,PDE4D Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm456503 5 58334922 [T/G] NM_001197222,NM_001197221,NM_001165899,NM_001104631,NM_006203,NM_001197218,NM_001197220,NM_001197219 PDE4D,PDE4D,PDE4D,PDE4D,PDE4D,PDE4D,PDE4D,PDE4D EXON Missense_P5T,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm-rs10052657 5 58407771 [A/C] NM_001165899,NM_001104631,NM_006203,NM_001197218,NM_001197220,NM_001197219 PDE4D,PDE4D,PDE4D,PDE4D,PDE4D,PDE4D Silent,Silent,Silent,Silent,Silent,Silent exm-rs1823068 5 58676049 [A/G] NM_001165899,NM_001104631,NM_006203,NM_001197218 PDE4D,PDE4D,PDE4D,PDE4D Silent,Silent,Silent,Silent exm-rs702543 5 58842774 [T/C] NM_001165899,NM_001104631,NM_006203,NM_001197218 PDE4D,PDE4D,PDE4D,PDE4D Silent,Silent,Silent,Silent exm2264122 5 58988846 [A/C] NM_001165899,NM_001104631,NM_001197218 PDE4D,PDE4D,PDE4D Silent,Silent,Silent exm456537 5 59064277 [T/C] NM_001165899,NM_001104631,NM_001197218 PDE4D,PDE4D,PDE4D EXON Silent,Silent,Missense_C20Y exm2261949 5 59231307 [T/C] NM_001165899 PDE4D Silent exm456565 5 59284471 [T/C] NM_001165899 PDE4D EXON Missense_R39Q exm456567 5 59284478 [T/G] NM_001165899 PDE4D EXON Missense_L37I exm-rs1588265 5 59369794 [A/G] NM_001165899 PDE4D Silent exm2270059 5 59735799 [T/C] NM_001165899 PDE4D Silent exm2261950 5 59823791 [T/C] NR_024617 PART1 Silent exm456582 5 59895032 [T/C] NM_001145208,NM_018369 DEPDC1B,DEPDC1B EXON Silent,Missense_R433H exm2270060 5 59926911 [T/C] NM_001145208,NM_018369 DEPDC1B,DEPDC1B Silent,Silent exm456606 5 59940656 [T/C] NM_001145208,NM_018369 DEPDC1B,DEPDC1B EXON Missense_V209I,Missense_V209I exm456625 5 59982996 [T/C] NM_001145208,NM_018369 DEPDC1B,DEPDC1B EXON Missense_R36H,Missense_R36H exm456627 5 59983002 [T/C] NM_001145208,NM_018369 DEPDC1B,DEPDC1B EXON Missense_R34H,Missense_R34H exm456628 5 59983011 [T/C] NM_001145208,NM_018369 DEPDC1B,DEPDC1B EXON Missense_R31Q,Missense_R31Q exm2102231 5 60050522 [A/G] NM_001104558,NM_024930 ELOVL7,ELOVL7 EXON Missense_R259C,Missense_R259C exm2257289 5 60053360 [T/C] NM_001104558,NM_024930 ELOVL7,ELOVL7 EXON Synonymous_K204K,Synonymous_K204K exm456661 5 60063694 [A/G] NM_001104558,NM_024930 ELOVL7,ELOVL7 EXON Nonsense_R98X,Nonsense_R98X exm456679 5 60083166 [T/C] NM_001104558,NM_024930 ELOVL7,ELOVL7 EXON Missense_D20G,Missense_D20G exm456690 5 60183319 [T/C] NM_000082 ERCC8 EXON Missense_N357S exm456696 5 60186745 [T/C] NM_000082 ERCC8 EXON Missense_D338N exm456700 5 60186846 [T/C] NM_000082 ERCC8 EXON Missense_S304N exm456703 5 60194107 [T/G] NM_000082 ERCC8 EXON Missense_T280K exm456709 5 60195517 [G/C] NM_000082 ERCC8 EXON Missense_A219P exm2102267 5 60198334 [A/T] NM_000082 ERCC8 EXON Synonymous_G184G exm456724 5 60200619 [T/C] NM_000082 ERCC8 EXON Missense_V161I exm2102271 5 60200670 [T/C] NM_000082 ERCC8 EXON Missense_V144I exm456727 5 60200691 [A/C] NM_000082 ERCC8 EXON Missense_V137L exm456737 5 60217906 [A/G] NM_000082 ERCC8 EXON Missense_C84R exm456738 5 60217981 [A/T] NM_000082 ERCC8 EXON Missense_M59L exm456800 5 60455827 [T/G] NM_001048249 SMIM15 EXON Missense_K58Q exm456804 5 60455923 [T/C] NM_001048249 SMIM15 EXON Missense_V26I exm456806 5 60455968 [T/C] NM_001048249 SMIM15 EXON Missense_V11I exm2266084 5 60603696 [A/G] exm456811 5 60768550 [T/C] NM_020928 ZSWIM6 EXON Missense_S240L exm456821 5 60822115 [T/C] NM_020928 ZSWIM6 EXON Missense_R577C exm456826 5 60825947 [A/G] NM_020928 ZSWIM6 EXON Missense_V636M exm456831 5 60827457 [A/G] NM_020928 ZSWIM6 EXON Missense_R717Q exm456848 5 60839615 [A/G] NM_020928 ZSWIM6 EXON Missense_R1040H exm456855 5 60840023 [A/G] NM_020928 ZSWIM6 EXON Missense_R1176Q exm2270061 5 60936935 [T/G] NM_173667 C5orf64 Silent exm456859 5 60982761 [T/C] NM_173667 C5orf64 EXON Missense_M30T exm456861 5 60982788 [T/C] NM_173667 C5orf64 EXON Missense_A39V exm456862 5 60982790 [T/A] NM_173667 C5orf64 EXON Missense_I40L exm456864 5 60982841 [A/G] NM_173667 C5orf64 EXON Missense_A57T exm456869 5 60999768 [T/C] NM_173667 C5orf64 EXON Missense_R101W exm456877 5 60999831 [T/C] NM_173667 C5orf64 EXON Missense_P122S exm2270210 5 61161048 [T/C] exm2265946 5 61626262 [A/G] NM_001243953,NM_001098511,NM_004520,NM_001243952 KIF2A,KIF2A,KIF2A,KIF2A Silent,Silent,Silent,Silent exm456884 5 61643910 [A/C] NM_001243953,NM_001098511,NM_004520,NM_001243952 KIF2A,KIF2A,KIF2A,KIF2A EXON Missense_D65E,Missense_D65E,Missense_D65E,Missense_D45E exm456892 5 61648462 [T/C] NM_001243953,NM_001098511,NM_004520,NM_001243952 KIF2A,KIF2A,KIF2A,KIF2A EXON Missense_S128P,Missense_S128P,Missense_S128P,Missense_S108P exm2257293 5 61668355 [T/C] NM_001243953,NM_001098511,NM_004520,NM_001243952 KIF2A,KIF2A,KIF2A,KIF2A EXON Silent,Synonymous_D579D,Silent,Silent exm2102318 5 61676975 [A/G] NM_001243953,NM_001098511,NM_004520,NM_001243952 KIF2A,KIF2A,KIF2A,KIF2A EXON Missense_A625T,Missense_A682T,Missense_A644T,Missense_A624T exm456952 5 61690403 [A/C] NM_014473 DIMT1 EXON Missense_A160S exm456953 5 61690420 [A/G] NM_014473 DIMT1 EXON Missense_M154T exm456978 5 61747557 [A/G] NM_016338,NM_001134779 IPO11,IPO11 EXON Missense_I105V,Missense_I145V exm456984 5 61747760 [T/C] NM_016338,NM_001134779 IPO11,IPO11 EXON Synonymous_D172D,Synonymous_D212D exm456997 5 61772530 [A/G] NM_016338,NM_001134779 IPO11,IPO11 EXON Missense_N260D,Missense_N300D exm457002 5 61772558 [A/C] NM_016338,NM_001134779 IPO11,IPO11 EXON Missense_T269N,Missense_T309N exm457003 5 61772569 [T/C] NM_016338,NM_001134779 IPO11,IPO11 EXON Missense_F273L,Missense_F313L exm457014 5 61779069 [A/G] NM_016338,NM_001134779 IPO11,IPO11 EXON Missense_I324V,Missense_I364V exm457025 5 61785999 [A/G] NM_016338,NM_001134779 IPO11,IPO11 EXON Missense_Q472R,Missense_Q512R exm2257295 5 61800698 [T/C] NM_016338,NM_001134779 IPO11,IPO11 EXON Synonymous_F546F,Synonymous_F586F exm457041 5 61811328 [C/G] NM_016338,NM_001134779 IPO11,IPO11 EXON Missense_Q632H,Missense_Q672H exm457050 5 61832574 [T/G] NM_016338,NM_001134779 IPO11,IPO11 EXON Missense_G712V,Missense_G752V exm457071 5 61856986 [A/G] NM_016338,NM_001134779 IPO11,IPO11 EXON Missense_M828I,Missense_M868I exm457074 5 61857063 [G/C] NM_016338,NM_001134779 IPO11,IPO11 EXON Missense_S854C,Missense_S894C exm457104 5 61876773 [T/C] NM_016338,NM_001134779,NR_073584,NM_181506 IPO11,IPO11,IPO11-LRRC70,LRRC70 EXON Silent,Silent,Silent,Missense_P503L exm457117 5 61923026 [A/G] NM_016338,NM_001134779,NR_073584 IPO11,IPO11,IPO11-LRRC70 EXON Missense_I937V,Missense_I977V,Silent exm457119 5 61923102 [T/C] NM_016338,NM_001134779,NR_073584 IPO11,IPO11,IPO11-LRRC70 EXON Missense_T962M,Missense_T1002M,Silent exm2270211 5 62409385 [T/C] exm-rs6875401 5 62456005 [T/C] exm-rs255414 5 62817900 [A/G] exm457131 5 63256547 [T/G] NM_000524 HTR1A EXON Missense_K334Q exm457148 5 63256799 [A/G] NM_000524 HTR1A EXON Missense_P250S exm457153 5 63256888 [A/C] NM_000524 HTR1A EXON Missense_R220L exm457158 5 63257002 [A/G] NM_000524 HTR1A EXON Missense_S182L exm457177 5 63257465 [T/C] NM_000524 HTR1A EXON Missense_I28V exm2242604 5 63257500 [A/G] NM_000524 HTR1A EXON Missense_P16L exm457182 5 63257540 [T/C] NM_000524 HTR1A EXON Missense_V3M exm2270212 5 63490739 [T/G] NM_178532,NM_001113561 RNF180,RNF180 Silent,Silent exm457193 5 63509431 [A/G] NM_178532,NM_001113561 RNF180,RNF180 EXON Missense_R93H,Missense_R93H exm457201 5 63509509 [A/G] NM_178532,NM_001113561 RNF180,RNF180 EXON Missense_R119Q,Missense_R119Q exm457208 5 63509662 [A/G] NM_178532,NM_001113561 RNF180,RNF180 EXON Missense_R170Q,Missense_R170Q exm457209 5 63509670 [A/G] NM_178532,NM_001113561 RNF180,RNF180 EXON Missense_N173D,Missense_N173D exm2274074 5 63509716 [A/C] NM_178532,NM_001113561 RNF180,RNF180 EXON Missense_P188Q,Missense_P188Q exm457214 5 63509746 [T/C] NM_178532,NM_001113561 RNF180,RNF180 EXON Missense_L198P,Missense_L198P exm457217 5 63509839 [A/G] NM_178532,NM_001113561 RNF180,RNF180 EXON Missense_H229R,Missense_H229R exm457219 5 63509898 [T/C] NM_178532,NM_001113561 RNF180,RNF180 EXON Missense_H249Y,Missense_H249Y exm457225 5 63510064 [T/C] NM_178532,NM_001113561 RNF180,RNF180 EXON Missense_T304I,Missense_T304I exm457226 5 63510087 [T/C] NM_178532,NM_001113561 RNF180,RNF180 EXON Missense_C312R,Missense_C312R exm457234 5 63510322 [A/G] NM_178532,NM_001113561 RNF180,RNF180 EXON Missense_R390H,Missense_R390H exm2242605 5 63510340 [A/T] NM_178532,NM_001113561 RNF180,RNF180 EXON Missense_K396M,Missense_K396M exm457241 5 63665448 [A/G] NM_001113561 RNF180 EXON Missense_R529H exm457263 5 63871709 [T/G] NM_001029875,NR_073511,NM_001271891,NM_001271890 RGS7BP,RGS7BP,RGS7BP,RGS7BP EXON Synonymous_G147G,Silent,Synonymous_G14G,Synonymous_G14G exm2257300 5 63871709 [T/G] NM_001029875,NR_073511,NM_001271891,NM_001271890 RGS7BP,RGS7BP,RGS7BP,RGS7BP EXON Synonymous_G147G,Silent,Synonymous_G14G,Synonymous_G14G exm2257301 5 63905019 [T/C] NM_001029875,NR_073511,NM_001271891,NM_001271890 RGS7BP,RGS7BP,RGS7BP,RGS7BP EXON Synonymous_Y238Y,Silent,Silent,Synonymous_Y105Y exm457275 5 63905019 [T/C] NM_001029875,NR_073511,NM_001271891,NM_001271890 RGS7BP,RGS7BP,RGS7BP,RGS7BP EXON Synonymous_Y238Y,Silent,Silent,Synonymous_Y105Y exm457277 5 63905068 [A/G] NM_001029875,NR_073511,NM_001271891,NM_001271890 RGS7BP,RGS7BP,RGS7BP,RGS7BP EXON Missense_I255V,Silent,Silent,Missense_I122V exm457279 5 63986463 [A/C] NM_001164442 FAM159B EXON Missense_S5R exm457284 5 63986609 [A/C] NM_001164442 FAM159B EXON Missense_F53L exm457286 5 63991426 [T/C] NM_001164442 FAM159B EXON Missense_T95M exm457287 5 63991473 [G/C] NM_001164442 FAM159B EXON Missense_A111P exm457299 5 64020316 [T/G] NM_173829 SREK1IP1 EXON Missense_K121N exm457328 5 64064993 [A/C] NM_005869 CWC27 EXON Missense_Q7P exm457331 5 64070596 [A/G] NM_005869 CWC27 EXON Missense_I41V exm457349 5 64081368 [A/G] NM_005869 CWC27 EXON Missense_E153K exm457361 5 64097143 [A/C] NM_005869 CWC27 EXON Missense_A255E exm2265948 5 64099769 [A/G] NM_005869 CWC27 Silent exm2102532 5 64100120 [G/C] NM_005869 CWC27 EXON Missense_R282T exm457368 5 64100159 [T/C] NM_005869 CWC27 EXON Missense_A295V exm457378 5 64181335 [T/G] NM_005869 CWC27 EXON Missense_V335G exm457383 5 64267562 [A/G] NM_005869 CWC27 EXON Missense_E359K exm457407 5 64466548 [A/G] NM_197941 ADAMTS6 EXON Missense_S1047F exm457411 5 64468684 [T/C] NM_197941 ADAMTS6 EXON Missense_R1021H exm457437 5 64511194 [A/G] NM_197941 ADAMTS6 EXON Missense_S798F exm457438 5 64511219 [T/C] NM_197941 ADAMTS6 EXON Missense_K790E exm457442 5 64520165 [T/C] NM_197941 ADAMTS6 EXON Missense_M752V exm457461 5 64538001 [C/G] NM_197941 ADAMTS6 EXON Missense_E621D exm457462 5 64556450 [A/G] NM_197941 ADAMTS6 EXON Missense_R603W exm457463 5 64556473 [T/C] NM_197941 ADAMTS6 EXON Missense_K595R exm2265949 5 64565261 [A/G] NM_197941 ADAMTS6 Silent exm457495 5 64748587 [G/C] NM_197941 ADAMTS6 EXON Missense_G264R exm457504 5 64755999 [A/G] NM_197941 ADAMTS6 EXON Missense_S210L exm457507 5 64756144 [A/C] NM_197941 ADAMTS6 EXON Missense_D162Y exm457509 5 64756164 [T/C] NM_197941 ADAMTS6 EXON Missense_H155R exm2266086 5 64764307 [A/G] NM_197941 ADAMTS6 Silent exm457514 5 64766763 [C/G] NM_197941 ADAMTS6 EXON Missense_L102V exm457516 5 64766798 [A/G] NM_197941 ADAMTS6 EXON Missense_S90L exm457537 5 64824298 [G/C] NM_022145,NM_001267038 CENPK,CENPK EXON Missense_R193T,Missense_R193T exm2102598 5 64824749 [G/C] NM_022145,NM_001267038 CENPK,CENPK EXON Nonsense_S156X,Nonsense_S156X exm2257305 5 64824784 [A/G] NM_022145,NM_001267038 CENPK,CENPK EXON Synonymous_S144S,Synonymous_S144S exm457543 5 64824836 [T/C] NM_022145,NM_001267038 CENPK,CENPK EXON Missense_R127Q,Missense_R127Q exm457545 5 64824956 [T/C] NM_022145,NM_001267038 CENPK,CENPK EXON Missense_E120G,Missense_E120G exm457550 5 64847418 [T/C] NM_022145,NM_001267038 CENPK,CENPK EXON Missense_S72G,Missense_S72G exm457552 5 64848334 [T/C] NM_022145,NM_001267038 CENPK,CENPK EXON Missense_D52N,Missense_D52N exm457558 5 64850659 [T/C] NM_022145,NM_001267038 CENPK,CENPK EXON Missense_R26G,Missense_R26G exm457559 5 64850665 [C/G] NM_022145,NM_001267038 CENPK,CENPK EXON Missense_L24V,Missense_L24V exm457573 5 64859234 [A/G] NR_046349,NR_046348,NR_046350,NM_015342 PPWD1,PPWD1,PPWD1,PPWD1 EXON Silent,Silent,Silent,Missense_A33T exm457581 5 64863346 [A/C] NR_046349,NR_046348,NR_046350,NM_015342 PPWD1,PPWD1,PPWD1,PPWD1 EXON Silent,Silent,Silent,Missense_E68A exm457585 5 64865487 [A/G] NR_046349,NR_046348,NR_046350,NM_015342 PPWD1,PPWD1,PPWD1,PPWD1 EXON Silent,Silent,Silent,Missense_D110N exm457590 5 64865818 [A/G] NR_046349,NR_046348,NR_046350,NM_015342 PPWD1,PPWD1,PPWD1,PPWD1 EXON Silent,Silent,Silent,Missense_K172E exm457591 5 64865826 [T/G] NR_046349,NR_046348,NR_046350,NM_015342 PPWD1,PPWD1,PPWD1,PPWD1 Silent,Silent,Silent,Silent exm457595 5 64867775 [A/G] NR_046349,NR_046348,NR_046350,NM_015342 PPWD1,PPWD1,PPWD1,PPWD1 EXON Silent,Silent,Silent,Missense_D211N exm457596 5 64867799 [C/G] NR_046349,NR_046348,NR_046350,NM_015342 PPWD1,PPWD1,PPWD1,PPWD1 EXON Silent,Silent,Silent,Missense_D219H exm457598 5 64867811 [A/G] NR_046349,NR_046348,NR_046350,NM_015342 PPWD1,PPWD1,PPWD1,PPWD1 EXON Silent,Silent,Silent,Missense_T223A exm457603 5 64867979 [T/C] NR_046349,NR_046348,NR_046350,NM_015342 PPWD1,PPWD1,PPWD1,PPWD1 EXON Silent,Silent,Silent,Missense_C279R exm457604 5 64868000 [A/G] NR_046349,NR_046348,NR_046350,NM_015342 PPWD1,PPWD1,PPWD1,PPWD1 EXON Silent,Silent,Silent,Missense_V286I exm457615 5 64875345 [A/G] NR_046349,NR_046348,NR_046350,NM_015342 PPWD1,PPWD1,PPWD1,PPWD1 EXON Silent,Silent,Silent,Missense_I419V exm457616 5 64875402 [A/G] NR_046349,NR_046348,NR_046350,NM_015342 PPWD1,PPWD1,PPWD1,PPWD1 EXON Silent,Silent,Silent,Missense_I438V exm-rs27141 5 64881936 [A/G] NR_046349,NR_046348,NR_046350,NM_015342 PPWD1,PPWD1,PPWD1,PPWD1 EXON Silent,Silent,Silent,Synonymous_P575P exm457636 5 64883085 [A/G] NR_046349,NR_046348,NR_046350,NM_015342 PPWD1,PPWD1,PPWD1,PPWD1 EXON Silent,Silent,Silent,Nonsense_W601X exm457641 5 64883144 [A/G] NR_046349,NR_046348,NR_046350,NM_015342 PPWD1,PPWD1,PPWD1,PPWD1 EXON Silent,Silent,Silent,Missense_R621K exm457642 5 64883155 [T/G] NR_046349,NR_046348,NR_046350,NM_015342 PPWD1,PPWD1,PPWD1,PPWD1 EXON Silent,Silent,Silent,Missense_V625F exm457678 5 64905263 [A/G] NM_033227,NM_001656,NM_033228 TRIM23,TRIM23,TRIM23 EXON Missense_A284V,Missense_A284V,Missense_A284V exm2270065 5 64908111 [T/G] NM_033227,NM_001656,NM_033228 TRIM23,TRIM23,TRIM23 Silent,Silent,Silent exm457700 5 64920079 [T/C] NM_033227,NM_001656,NM_033228 TRIM23,TRIM23,TRIM23 EXON Missense_K8R,Missense_K8R,Missense_K8R exm457712 5 64933563 [A/G] NM_024941,NM_001243737,NM_001093755,NM_001093756 TRAPPC13,TRAPPC13,TRAPPC13,TRAPPC13 EXON Missense_V86I,Missense_V86I,Missense_V86I,Missense_V86I exm457718 5 64942912 [A/C] NM_024941,NM_001243737,NM_001093755,NM_001093756 TRAPPC13,TRAPPC13,TRAPPC13,TRAPPC13 EXON Missense_N111H,Missense_N111H,Missense_N111H,Missense_N111H exm457725 5 64956557 [A/C] NM_024941,NM_001243737,NM_001093755,NM_001093756 TRAPPC13,TRAPPC13,TRAPPC13,TRAPPC13 EXON Missense_Q244K,Missense_Q238K,Missense_Q244K,Missense_Q238K exm457726 5 64956563 [A/G] NM_024941,NM_001243737,NM_001093755,NM_001093756 TRAPPC13,TRAPPC13,TRAPPC13,TRAPPC13 EXON Missense_M246V,Missense_M240V,Missense_M246V,Missense_M240V exm457734 5 64960102 [C/G] NM_024941,NM_001243737,NM_001093755,NM_001093756 TRAPPC13,TRAPPC13,TRAPPC13,TRAPPC13 EXON Missense_T346S,Missense_T341S,Missense_T347S,Missense_T340S exm457735 5 64960394 [A/G] NM_024941,NM_001243737,NM_001093755,NM_001093756 TRAPPC13,TRAPPC13,TRAPPC13,TRAPPC13 EXON Missense_A404T,Missense_A399T,Missense_A405T,Missense_A398T exm457747 5 64976539 [T/A] NM_019072 SGTB EXON Missense_S188T exm457756 5 65000195 [T/G] NM_019072 SGTB EXON Missense_H95Q exm2242617 5 65008798 [A/G] NM_019072 SGTB EXON Missense_S65F exm457766 5 65016573 [A/G] NM_019072 SGTB EXON Missense_M21T exm457776 5 65054513 [T/C] NM_020726 NLN EXON Missense_P54L exm457778 5 65054587 [A/G] NM_020726 NLN EXON Missense_G79S exm457790 5 65058904 [T/G] NM_020726 NLN EXON Missense_G140V exm457793 5 65073287 [T/G] NM_020726 NLN EXON Missense_A162S exm457800 5 65077194 [T/A] NM_020726 NLN EXON Nonsense_C256X exm457804 5 65081722 [A/G] NM_020726 NLN EXON Missense_V315I exm2274075 5 65083952 [A/C] NM_020726 NLN EXON Missense_L322F exm457814 5 65084101 [A/G] NM_020726 NLN EXON Missense_K372R exm457819 5 65084210 [A/G] NM_020726 NLN EXON Missense_M408I exm2242621 5 65084235 [A/G] NM_020726 NLN EXON Missense_S417G exm457825 5 65088349 [A/G] NM_020726 NLN EXON Missense_R465Q exm2102732 5 65088405 [T/C] NM_020726 NLN EXON Missense_P484S exm457833 5 65105354 [T/C] NM_020726 NLN EXON Nonsense_R514X exm2102734 5 65105441 [T/C] NM_020726 NLN EXON Nonsense_R543X exm2102735 5 65105486 [A/G] NM_020726 NLN EXON Missense_D558N exm457841 5 65105886 [T/G] NM_020726 NLN EXON Missense_I579M exm457862 5 65118738 [T/C] NM_020726 NLN EXON Missense_P704S exm457867 5 65288668 [T/C] NM_001253699,NM_001253698,NM_001006600,NM_001253701,NM_001253697,NM_018695 ERBB2IP,ERBB2IP,ERBB2IP,ERBB2IP,ERBB2IP,ERBB2IP EXON Missense_I41T,Missense_I41T,Missense_I41T,Missense_I41T,Missense_I41T,Missense_I41T exm457873 5 65290647 [A/G] NM_001253699,NM_001253698,NM_001006600,NM_001253701,NM_001253697,NM_018695 ERBB2IP,ERBB2IP,ERBB2IP,ERBB2IP,ERBB2IP,ERBB2IP EXON Missense_I88V,Missense_I88V,Missense_I88V,Missense_I88V,Missense_I88V,Missense_I88V exm457877 5 65307924 [A/G] NM_001253699,NM_001253698,NM_001006600,NM_001253701,NM_001253697,NM_018695 ERBB2IP,ERBB2IP,ERBB2IP,ERBB2IP,ERBB2IP,ERBB2IP EXON Missense_I119V,Missense_I119V,Missense_I119V,Missense_I119V,Missense_I119V,Missense_I119V exm457882 5 65317158 [A/G] NM_001253699,NM_001253698,NM_001006600,NM_001253701,NM_001253697,NM_018695 ERBB2IP,ERBB2IP,ERBB2IP,ERBB2IP,ERBB2IP,ERBB2IP EXON Missense_N181S,Missense_N181S,Missense_N181S,Missense_N181S,Missense_N181S,Missense_N181S exm457884 5 65317206 [T/C] NM_001253699,NM_001253698,NM_001006600,NM_001253701,NM_001253697,NM_018695 ERBB2IP,ERBB2IP,ERBB2IP,ERBB2IP,ERBB2IP,ERBB2IP EXON Missense_T197M,Missense_T197M,Missense_T197M,Missense_T197M,Missense_T197M,Missense_T197M exm457894 5 65321311 [T/C] NM_001253699,NM_001253698,NM_001006600,NM_001253701,NM_001253697,NM_018695 ERBB2IP,ERBB2IP,ERBB2IP,ERBB2IP,ERBB2IP,ERBB2IP EXON Missense_S274L,Missense_S274L,Missense_S274L,Missense_S274L,Missense_S274L,Missense_S274L exm457896 5 65321320 [A/C] NM_001253699,NM_001253698,NM_001006600,NM_001253701,NM_001253697,NM_018695 ERBB2IP,ERBB2IP,ERBB2IP,ERBB2IP,ERBB2IP,ERBB2IP EXON Missense_N277T,Missense_N277T,Missense_N277T,Missense_N277T,Missense_N277T,Missense_N277T exm2257307 5 65321363 [A/G] NM_001253699,NM_001253698,NM_001006600,NM_001253701,NM_001253697,NM_018695 ERBB2IP,ERBB2IP,ERBB2IP,ERBB2IP,ERBB2IP,ERBB2IP EXON Synonymous_L291L,Synonymous_L291L,Synonymous_L291L,Synonymous_L291L,Synonymous_L291L,Synonymous_L291L exm457901 5 65321695 [C/G] NM_001253699,NM_001253698,NM_001006600,NM_001253701,NM_001253697,NM_018695 ERBB2IP,ERBB2IP,ERBB2IP,ERBB2IP,ERBB2IP,ERBB2IP EXON Missense_L304V,Missense_L304V,Missense_L304V,Missense_L304V,Missense_L304V,Missense_L304V exm457903 5 65321750 [T/C] NM_001253699,NM_001253698,NM_001006600,NM_001253701,NM_001253697,NM_018695 ERBB2IP,ERBB2IP,ERBB2IP,ERBB2IP,ERBB2IP,ERBB2IP EXON Missense_T322I,Missense_T322I,Missense_T322I,Missense_T322I,Missense_T322I,Missense_T322I exm2102779 5 65324151 [A/G] NM_001253699,NM_001253698,NM_001006600,NM_001253701,NM_001253697,NM_018695 ERBB2IP,ERBB2IP,ERBB2IP,ERBB2IP,ERBB2IP,ERBB2IP EXON Missense_M396V,Missense_M396V,Missense_M396V,Missense_M396V,Missense_M396V,Missense_M396V exm2242628 5 65339026 [A/G] NM_001253699,NM_001253698,NM_001006600,NM_001253701,NM_001253697,NM_018695 ERBB2IP,ERBB2IP,ERBB2IP,ERBB2IP,ERBB2IP,ERBB2IP EXON Synonymous_R476R,Synonymous_R476R,Synonymous_R476R,Synonymous_R476R,Synonymous_R476R,Synonymous_R476R exm457928 5 65342357 [A/T] NM_001253699,NM_001253698,NM_001006600,NM_001253701,NM_001253697,NM_018695 ERBB2IP,ERBB2IP,ERBB2IP,ERBB2IP,ERBB2IP,ERBB2IP EXON Missense_D593E,Missense_D593E,Missense_D593E,Missense_D589E,Missense_D593E,Missense_D593E exm457929 5 65344532 [T/C] NM_001253699,NM_001253698,NM_001006600,NM_001253701,NM_001253697,NM_018695 ERBB2IP,ERBB2IP,ERBB2IP,ERBB2IP,ERBB2IP,ERBB2IP EXON Missense_M609T,Missense_M609T,Missense_M609T,Missense_M605T,Missense_M609T,Missense_M609T exm2257308 5 65344551 [A/C] NM_001253699,NM_001253698,NM_001006600,NM_001253701,NM_001253697,NM_018695 ERBB2IP,ERBB2IP,ERBB2IP,ERBB2IP,ERBB2IP,ERBB2IP EXON Synonymous_P615P,Synonymous_P615P,Synonymous_P615P,Synonymous_P611P,Synonymous_P615P,Synonymous_P615P exm457931 5 65344568 [T/C] NM_001253699,NM_001253698,NM_001006600,NM_001253701,NM_001253697,NM_018695 ERBB2IP,ERBB2IP,ERBB2IP,ERBB2IP,ERBB2IP,ERBB2IP EXON Missense_I621T,Missense_I621T,Missense_I621T,Missense_I617T,Missense_I621T,Missense_I621T exm457943 5 65346779 [T/C] NM_001253699,NM_001253698,NM_001006600,NM_001253701,NM_001253697,NM_018695 ERBB2IP,ERBB2IP,ERBB2IP,ERBB2IP,ERBB2IP,ERBB2IP EXON Missense_I691T,Missense_I691T,Missense_I691T,Missense_I687T,Missense_I691T,Missense_I691T exm457947 5 65349298 [G/C] NM_001253699,NM_001253698,NM_001006600,NM_001253701,NM_001253697,NM_018695 ERBB2IP,ERBB2IP,ERBB2IP,ERBB2IP,ERBB2IP,ERBB2IP EXON Missense_E718Q,Missense_E718Q,Missense_E718Q,Missense_E714Q,Missense_E718Q,Missense_E718Q exm457949 5 65349382 [A/G] NM_001253699,NM_001253698,NM_001006600,NM_001253701,NM_001253697,NM_018695 ERBB2IP,ERBB2IP,ERBB2IP,ERBB2IP,ERBB2IP,ERBB2IP EXON Missense_K746E,Missense_K746E,Missense_K746E,Missense_K742E,Missense_K746E,Missense_K746E exm457957 5 65349563 [A/G] NM_001253699,NM_001253698,NM_001006600,NM_001253701,NM_001253697,NM_018695 ERBB2IP,ERBB2IP,ERBB2IP,ERBB2IP,ERBB2IP,ERBB2IP EXON Missense_H806R,Missense_H806R,Missense_H806R,Missense_H802R,Missense_H806R,Missense_H806R exm457960 5 65349671 [T/A] NM_001253699,NM_001253698,NM_001006600,NM_001253701,NM_001253697,NM_018695 ERBB2IP,ERBB2IP,ERBB2IP,ERBB2IP,ERBB2IP,ERBB2IP EXON Missense_D842V,Missense_D842V,Missense_D842V,Missense_D838V,Missense_D842V,Missense_D842V exm457971 5 65349887 [A/G] NM_001253699,NM_001253698,NM_001006600,NM_001253701,NM_001253697,NM_018695 ERBB2IP,ERBB2IP,ERBB2IP,ERBB2IP,ERBB2IP,ERBB2IP EXON Missense_K914R,Missense_K914R,Missense_K914R,Missense_K910R,Missense_K914R,Missense_K914R exm457973 5 65349908 [T/A] NM_001253699,NM_001253698,NM_001006600,NM_001253701,NM_001253697,NM_018695 ERBB2IP,ERBB2IP,ERBB2IP,ERBB2IP,ERBB2IP,ERBB2IP EXON Missense_D921V,Missense_D921V,Missense_D921V,Missense_D917V,Missense_D921V,Missense_D921V exm457982 5 65350043 [A/G] NM_001253699,NM_001253698,NM_001006600,NM_001253701,NM_001253697,NM_018695 ERBB2IP,ERBB2IP,ERBB2IP,ERBB2IP,ERBB2IP,ERBB2IP EXON Missense_Q966R,Missense_Q966R,Missense_Q966R,Missense_Q962R,Missense_Q966R,Missense_Q966R exm457991 5 65350250 [A/G] NM_001253699,NM_001253698,NM_001006600,NM_001253701,NM_001253697,NM_018695 ERBB2IP,ERBB2IP,ERBB2IP,ERBB2IP,ERBB2IP,ERBB2IP EXON Missense_N1035S,Missense_N1035S,Missense_N1035S,Missense_N1031S,Missense_N1035S,Missense_N1035S exm457992 5 65350279 [T/C] NM_001253699,NM_001253698,NM_001006600,NM_001253701,NM_001253697,NM_018695 ERBB2IP,ERBB2IP,ERBB2IP,ERBB2IP,ERBB2IP,ERBB2IP EXON Missense_H1045Y,Missense_H1045Y,Missense_H1045Y,Missense_H1041Y,Missense_H1045Y,Missense_H1045Y exm2102806 5 65350343 [T/C] NM_001253699,NM_001253698,NM_001006600,NM_001253701,NM_001253697,NM_018695 ERBB2IP,ERBB2IP,ERBB2IP,ERBB2IP,ERBB2IP,ERBB2IP EXON Missense_I1066T,Missense_I1066T,Missense_I1066T,Missense_I1062T,Missense_I1066T,Missense_I1066T exm2242630 5 65350406 [A/G] NM_001253699,NM_001253698,NM_001006600,NM_001253701,NM_001253697,NM_018695 ERBB2IP,ERBB2IP,ERBB2IP,ERBB2IP,ERBB2IP,ERBB2IP EXON Missense_N1087S,Missense_N1087S,Missense_N1087S,Missense_N1083S,Missense_N1087S,Missense_N1087S exm457997 5 65350412 [T/G] NM_001253699,NM_001253698,NM_001006600,NM_001253701,NM_001253697,NM_018695 ERBB2IP,ERBB2IP,ERBB2IP,ERBB2IP,ERBB2IP,ERBB2IP EXON Missense_G1089V,Missense_G1089V,Missense_G1089V,Missense_G1085V,Missense_G1089V,Missense_G1089V exm457998 5 65350417 [T/C] NM_001253699,NM_001253698,NM_001006600,NM_001253701,NM_001253697,NM_018695 ERBB2IP,ERBB2IP,ERBB2IP,ERBB2IP,ERBB2IP,ERBB2IP EXON Missense_P1091S,Missense_P1091S,Missense_P1091S,Missense_P1087S,Missense_P1091S,Missense_P1091S exm2102808 5 65350441 [A/G] NM_001253699,NM_001253698,NM_001006600,NM_001253701,NM_001253697,NM_018695 ERBB2IP,ERBB2IP,ERBB2IP,ERBB2IP,ERBB2IP,ERBB2IP EXON Missense_I1099V,Missense_I1099V,Missense_I1099V,Missense_I1095V,Missense_I1099V,Missense_I1099V exm458001 5 65350481 [T/C] NM_001253699,NM_001253698,NM_001006600,NM_001253701,NM_001253697,NM_018695 ERBB2IP,ERBB2IP,ERBB2IP,ERBB2IP,ERBB2IP,ERBB2IP EXON Missense_S1112L,Missense_S1112L,Missense_S1112L,Missense_S1108L,Missense_S1112L,Missense_S1112L exm2102817 5 65370943 [C/G] NM_001253699,NM_001253698,NM_001006600,NM_001253701,NM_001253697,NM_018695 ERBB2IP,ERBB2IP,ERBB2IP,ERBB2IP,ERBB2IP,ERBB2IP EXON Missense_R1290T,Missense_R1242T,Silent,Missense_R1238T,Missense_R1283T,Missense_R1242T exm458021 5 65372156 [A/G] NM_001253699,NM_001253698,NM_001006600,NM_001253701,NM_001253697,NM_018695 ERBB2IP,ERBB2IP,ERBB2IP,ERBB2IP,ERBB2IP,ERBB2IP EXON Missense_V1333I,Missense_V1285I,Missense_V1216I,Missense_V1281I,Missense_V1326I,Missense_V1285I exm458028 5 65374262 [A/C] NM_001253699,NM_001253698,NM_001006600,NM_001253701,NM_001253697,NM_018695 ERBB2IP,ERBB2IP,ERBB2IP,ERBB2IP,ERBB2IP,ERBB2IP EXON Nonsense_Y1388X,Nonsense_Y1315X,Nonsense_Y1271X,Nonsense_Y1336X,Nonsense_Y1381X,Nonsense_Y1340X exm458062 5 65465971 [A/G] NM_001077199,NM_001270492,NM_139168 SREK1,SREK1,SREK1 EXON Missense_R365Q,Missense_R249Q,Missense_R249Q exm458063 5 65465986 [A/G] NM_001077199,NM_001270492,NM_139168 SREK1,SREK1,SREK1 EXON Missense_R370H,Missense_R254H,Missense_R254H exm458071 5 65466526 [A/G] NM_001077199,NM_001270492,NM_139168 SREK1,SREK1,SREK1 EXON Missense_G412D,Missense_G296D,Missense_G296D exm458076 5 65466600 [T/C] NM_001077199,NM_001270492,NM_139168 SREK1,SREK1,SREK1 EXON Missense_R437W,Missense_R321W,Missense_R321W exm458079 5 65466691 [T/C] NM_001077199,NM_001270492,NM_139168 SREK1,SREK1,SREK1 EXON Missense_I467T,Missense_I351T,Missense_I351T exm458085 5 65466762 [T/C] NM_001077199,NM_001270492,NM_139168 SREK1,SREK1,SREK1 EXON Missense_R491C,Missense_R375C,Missense_R375C exm458094 5 65473481 [T/C] NM_001077199,NM_001270492,NM_139168 SREK1,SREK1,SREK1 EXON Missense_L574F,Missense_L457F,Missense_L458F exm2265950 5 65532505 [A/G] exm-rs10514995 5 65739439 [T/C] exm2270213 5 65759249 [T/G] exm-rs10069397 5 65783709 [T/C] exm2265951 5 65829867 [A/G] exm458102 5 65892523 [C/G] NM_001164664,NM_198828 MAST4,MAST4 EXON Missense_R14G,Missense_R14G exm458115 5 66055573 [T/C] NM_001164664,NM_198828 MAST4,MAST4 EXON Missense_R134W,Missense_R134W exm458117 5 66055628 [A/C] NM_001164664,NM_198828 MAST4,MAST4 EXON Missense_K152T,Missense_K152T exm458154 5 66350316 [T/G] NM_001164664,NM_015183 MAST4,MAST4 EXON Missense_H253Q,Missense_H64Q exm458163 5 66396393 [T/C] NM_001164664,NM_015183 MAST4,MAST4 EXON Missense_P348L,Missense_P159L exm458165 5 66396398 [T/C] NM_001164664,NM_015183 MAST4,MAST4 EXON Missense_R350C,Missense_R161C exm458168 5 66398380 [A/G] NM_001164664,NM_015183 MAST4,MAST4 EXON Missense_A363T,Missense_A174T exm458211 5 66440591 [A/G] NM_001164664,NM_015183 MAST4,MAST4 EXON Missense_E942G,Missense_E753G exm458217 5 66441069 [A/G] NM_001164664,NM_015183 MAST4,MAST4 EXON Missense_E986K,Missense_E797K exm458225 5 66445289 [T/C] NM_001164664,NM_015183 MAST4,MAST4 EXON Missense_S1056L,Missense_S867L exm458233 5 66448560 [A/T] NM_001164664,NM_015183 MAST4,MAST4 EXON Missense_S1131T,Missense_S942T exm458241 5 66449305 [T/C] NM_001164664,NM_015183 MAST4,MAST4 EXON Missense_P1182L,Missense_P993L exm458244 5 66449326 [A/G] NM_001164664,NM_015183 MAST4,MAST4 EXON Missense_K1189R,Missense_K1000R exm458248 5 66449356 [A/G] NM_001164664,NM_015183 MAST4,MAST4 EXON Missense_G1199E,Missense_G1010E exm-rs1697137 5 66452175 [A/G] NM_001164664,NM_015183 MAST4,MAST4 Silent,Silent exm2102965 5 66458615 [T/G] NM_001164664,NM_015183 MAST4,MAST4 EXON Synonymous_S1322S,Synonymous_S1133S exm458268 5 66459234 [C/G] NM_001164664,NM_015183 MAST4,MAST4 EXON Missense_I1409M,Missense_I1220M exm458290 5 66459842 [A/G] NM_001164664,NM_015183 MAST4,MAST4 EXON Missense_S1612N,Missense_S1423N exm458291 5 66459843 [A/C] NM_001164664,NM_015183 MAST4,MAST4 EXON Missense_S1612R,Missense_S1423R exm458307 5 66460352 [A/G] NM_001164664,NM_015183 MAST4,MAST4 EXON Missense_R1782K,Missense_R1593K exm458308 5 66460390 [A/G] NM_001164664,NM_015183 MAST4,MAST4 EXON Missense_V1795I,Missense_V1606I exm458321 5 66460595 [A/G] NM_001164664,NM_015183 MAST4,MAST4 EXON Missense_S1863N,Missense_S1674N exm458322 5 66460630 [T/C] NM_001164664,NM_015183 MAST4,MAST4 EXON Missense_W1875R,Missense_W1686R exm458335 5 66460900 [A/G] NM_001164664,NM_015183 MAST4,MAST4 EXON Missense_R1965G,Missense_R1776G exm458349 5 66461103 [A/G] NM_001164664,NM_015183 MAST4,MAST4 EXON Missense_M2032I,Missense_M1843I exm458350 5 66461117 [T/C] NM_001164664,NM_015183 MAST4,MAST4 EXON Missense_A2037V,Missense_A1848V exm458356 5 66461254 [T/C] NM_001164664,NM_015183 MAST4,MAST4 EXON Missense_P2083S,Missense_P1894S exm458361 5 66461363 [T/C] NM_001164664,NM_015183 MAST4,MAST4 EXON Missense_P2119L,Missense_P1930L exm458363 5 66461391 [C/G] NM_001164664,NM_015183 MAST4,MAST4 EXON Missense_R2128S,Missense_R1939S exm458376 5 66461644 [T/G] NM_001164664,NM_015183 MAST4,MAST4 EXON Missense_S2213A,Missense_S2024A exm458379 5 66461713 [A/G] NM_001164664,NM_015183 MAST4,MAST4 EXON Missense_S2236G,Missense_S2047G exm458389 5 66461884 [T/C] NM_001164664,NM_015183 MAST4,MAST4 EXON Missense_R2293W,Missense_R2104W exm458390 5 66461930 [A/G] NM_001164664,NM_015183 MAST4,MAST4 EXON Missense_G2308E,Missense_G2119E exm458399 5 66462143 [A/G] NM_001164664,NM_015183 MAST4,MAST4 EXON Missense_Y2379C,Missense_Y2190C exm458406 5 66462325 [A/T] NM_001164664,NM_015183 MAST4,MAST4 EXON Missense_S2440T,Missense_S2251T exm458411 5 66462494 [A/C] NM_001164664,NM_015183 MAST4,MAST4 EXON Missense_A2496D,Missense_A2307D exm458412 5 66462529 [A/G] NM_001164664,NM_015183 MAST4,MAST4 EXON Missense_A2508T,Missense_A2319T exm458431 5 66478729 [A/G] NM_005582 CD180 EXON Missense_F648L exm458446 5 66479037 [A/C] NM_005582 CD180 EXON Missense_G545V exm458447 5 66479043 [A/G] NM_005582 CD180 EXON Missense_L543P exm458454 5 66479211 [A/G] NM_005582 CD180 EXON Missense_T487M exm458456 5 66479256 [T/C] NM_005582 CD180 EXON Missense_R472Q exm458461 5 66479383 [T/C] NM_005582 CD180 EXON Missense_T430A exm458465 5 66479433 [T/C] NM_005582 CD180 EXON Missense_S413N exm458467 5 66479454 [T/C] NM_005582 CD180 EXON Missense_N406S exm458473 5 66479605 [T/C] NM_005582 CD180 EXON Missense_V356M exm458481 5 66479689 [G/C] NM_005582 CD180 EXON Missense_L328V exm458491 5 66479871 [A/G] NM_005582 CD180 EXON Missense_M267T exm458493 5 66479896 [T/C] NM_005582 CD180 EXON Missense_D259N exm458500 5 66480051 [T/C] NM_005582 CD180 EXON Missense_N207S exm458503 5 66480154 [A/G] NM_005582 CD180 EXON Missense_R173W exm458509 5 66480297 [T/C] NM_005582 CD180 EXON Missense_K125R exm458513 5 66480374 [G/C] NM_005582 CD180 EXON Missense_S99R exm458517 5 66481777 [G/C] NM_005582 CD180 EXON Missense_N53K exm458522 5 66492412 [G/C] NM_005582 CD180 EXON Missense_V20L exm2270214 5 66495847 [T/C] exm2265952 5 66538400 [A/G] exm2270066 5 66780590 [T/C] exm2270067 5 67335548 [T/C] exm458551 5 67575490 [A/G] NM_181523 PIK3R1 EXON Missense_R188H exm458559 5 67576437 [T/C] NM_181523 PIK3R1 EXON Missense_T239M exm2242648 5 67576807 [A/G] NM_181523 PIK3R1 EXON Missense_E297K exm458568 5 67586561 [A/T] NM_181523,NM_181524,NM_181504 PIK3R1,PIK3R1,PIK3R1 EXON Silent,Silent,Missense_Y2F exm458569 5 67586574 [T/G] NM_181523,NM_181524,NM_181504 PIK3R1,PIK3R1,PIK3R1 EXON Silent,Silent,Missense_W6C exm458573 5 67588131 [A/G] NM_181523,NM_181524,NM_181504 PIK3R1,PIK3R1,PIK3R1 EXON Missense_G321S,Missense_G21S,Missense_G51S exm458575 5 67588148 [A/G] NM_181523,NM_181524,NM_181504 PIK3R1,PIK3R1,PIK3R1 EXON Missense_M326I,Missense_M26I,Missense_M56I exm2266087 5 67596088 [A/G] NM_181523,NM_181524,NM_181504,NM_001242466 PIK3R1,PIK3R1,PIK3R1,PIK3R1 EXON Silent,Silent,Silent,Silent exm-rs4976033 5 67714246 [A/G] exm2266088 5 68003767 [A/G] exm2257317 5 68067029 [A/G] exm2270068 5 68366457 [T/C] exm458605 5 68398889 [T/G] NM_001251969,NM_024055,NM_022902 SLC30A5,SLC30A5,SLC30A5 EXON Synonymous_R28R,Synonymous_G69G,Synonymous_G69G exm458611 5 68399865 [A/G] NM_001251969,NM_024055,NM_022902 SLC30A5,SLC30A5,SLC30A5 EXON Missense_G76E,Missense_G117E,Silent exm458619 5 68404226 [G/C] NM_022902 SLC30A5 EXON Missense_S137T exm458630 5 68410263 [C/G] NM_022902 SLC30A5 EXON Missense_D184E exm458637 5 68411871 [A/G] NM_022902 SLC30A5 EXON Missense_C301Y exm458638 5 68411954 [T/C] NM_022902 SLC30A5 EXON Missense_R329W exm458648 5 68412319 [A/G] NM_022902 SLC30A5 EXON Missense_A391T exm458652 5 68413096 [A/G] NM_022902 SLC30A5 EXON Missense_V438M exm458659 5 68414334 [A/G] NM_022902 SLC30A5 EXON Missense_R483Q exm458662 5 68414387 [T/C] NM_022902 SLC30A5 EXON Missense_F501L exm458664 5 68414405 [T/A] NM_022902 SLC30A5 EXON Missense_S507T exm458666 5 68417611 [A/G] NM_022902 SLC30A5 EXON Missense_S554G exm458671 5 68417704 [A/G] NM_022902 SLC30A5 EXON Missense_M585V exm458678 5 68419076 [A/G] NM_022902 SLC30A5 EXON Missense_V608I exm458712 5 68463899 [T/G] NM_031966 CCNB1 EXON Missense_M62I exm458713 5 68464027 [C/G] NM_031966 CCNB1 EXON Missense_V74L exm458730 5 68470221 [T/G] NM_031966 CCNB1 EXON Missense_I230M exm458751 5 68473448 [T/C] NM_031966 CCNB1 EXON Missense_A431V exm458758 5 68487643 [A/T] NM_022909 CENPH EXON Missense_Q52H exm458762 5 68490521 [A/G] NM_022909 CENPH EXON Missense_A80T exm2103186 5 68504097 [A/G] NM_022909 CENPH EXON Missense_S188G exm458784 5 68513663 [A/G] NM_033281 MRPS36 EXON Missense_G3S exm2103192 5 68524087 [A/C] NM_033281 MRPS36 EXON Missense_S56Y exm458794 5 68525036 [A/G] NM_033281 MRPS36 EXON Missense_R99H exm458806 5 68550456 [T/G] NM_001799 CDK7 EXON Missense_I63R exm458813 5 68555733 [A/G] NM_001799 CDK7 EXON Missense_N166S exm458818 5 68565119 [T/C] NM_001799 CDK7 EXON Missense_P238L exm458819 5 68565120 [A/G] NM_001799 CDK7 EXON Synonymous_P238P exm458822 5 68568858 [T/C] NM_001799 CDK7 EXON Missense_T285M exm458827 5 68578647 [T/C] NM_176816 CCDC125 EXON Missense_G482D exm458828 5 68578689 [T/C] NM_176816 CCDC125 EXON Missense_G468D exm458832 5 68578806 [A/G] NM_176816 CCDC125 EXON Missense_A429V exm458834 5 68578845 [T/G] NM_176816 CCDC125 EXON Missense_E416A exm458840 5 68588029 [T/C] NM_176816 CCDC125 EXON Missense_H362R exm458841 5 68588083 [A/G] NM_176816 CCDC125 EXON Missense_L344S exm458845 5 68588160 [T/G] NM_176816 CCDC125 EXON Missense_E318D exm458847 5 68590644 [T/A] NM_176816 CCDC125 EXON Missense_K300N exm458859 5 68595943 [A/G] NM_176816 CCDC125 EXON Missense_R238W exm458869 5 68603804 [T/C] NM_176816 CCDC125 EXON Missense_M169V exm458870 5 68603819 [T/C] NM_176816 CCDC125 EXON Missense_V164M exm458871 5 68603827 [A/G] NM_176816 CCDC125 EXON Missense_T161M exm458872 5 68603851 [A/C] NM_176816 CCDC125 EXON Missense_I153R exm458879 5 68616079 [A/G] NM_176816 CCDC125 EXON Nonsense_R97X exm458886 5 68616156 [T/G] NM_176816 CCDC125 EXON Missense_E71A exm458888 5 68616186 [A/G] NM_176816 CCDC125 EXON Missense_P61L exm2103242 5 68616301 [T/C] NM_176816 CCDC125 EXON Missense_M23V exm458893 5 68616331 [T/C] NM_176816 CCDC125 EXON Missense_V13M exm2103251 5 68651773 [A/C] NM_016283,NM_001015891 TAF9,TAF9 EXON Missense_L43F,Missense_L40F exm458940 5 68662380 [A/G] NM_016283,NM_001015891,NM_003187,NM_001015892 TAF9,TAF9,TAF9,TAF9 EXON Missense_A24V,Missense_A21V,Silent,Silent exm458970 5 68668039 [A/C] NM_133343,NM_133344,NM_133342,NM_133338,NM_002873,NM_133341,NM_133340,NM_133339 RAD17,RAD17,RAD17,RAD17,RAD17,RAD17,RAD17,RAD17 EXON Missense_N2H,Missense_N2H,Missense_N2H,Missense_N2H,Missense_N2H,Missense_N2H,Silent,Silent exm458975 5 68669714 [A/G] NM_133343,NM_133344,NM_133342,NM_133338,NM_002873,NM_133341,NM_133340,NM_133339 RAD17,RAD17,RAD17,RAD17,RAD17,RAD17,RAD17,RAD17 EXON Missense_T23A,Missense_T23A,Missense_T23A,Missense_T23A,Missense_T23A,Silent,Silent,Missense_T34A exm458976 5 68669736 [T/G] NM_133343,NM_133344,NM_133342,NM_133338,NM_002873,NM_133341,NM_133340,NM_133339 RAD17,RAD17,RAD17,RAD17,RAD17,RAD17,RAD17,RAD17 EXON Missense_G30V,Missense_G30V,Missense_G30V,Missense_G30V,Missense_G30V,Silent,Silent,Missense_G41V exm458986 5 68677776 [A/G] NM_133343,NM_133344,NM_133342,NM_133338,NM_002873,NM_133341,NM_133340,NM_133339 RAD17,RAD17,RAD17,RAD17,RAD17,RAD17,RAD17,RAD17 EXON Missense_T134A,Missense_T134A,Missense_T134A,Missense_T134A,Missense_T134A,Missense_T48A,Silent,Missense_T145A exm458993 5 68680687 [C/G] NM_133343,NM_133344,NM_133342,NM_133338,NM_002873,NM_133341,NM_133340,NM_133339 RAD17,RAD17,RAD17,RAD17,RAD17,RAD17,RAD17,RAD17 EXON Missense_R191T,Missense_R191T,Missense_R191T,Missense_R191T,Missense_R191T,Missense_R105T,Missense_R26T,Missense_R202T exm459003 5 68681915 [A/G] NM_133343,NM_133344,NM_133342,NM_133338,NM_002873,NM_133341,NM_133340,NM_133339 RAD17,RAD17,RAD17,RAD17,RAD17,RAD17,RAD17,RAD17 EXON Missense_V231I,Missense_V231I,Missense_V231I,Missense_V231I,Missense_V231I,Missense_V145I,Missense_V66I,Missense_V242I exm459004 5 68682040 [A/G] NM_133343,NM_133344,NM_133342,NM_133338,NM_002873,NM_133341,NM_133340,NM_133339 RAD17,RAD17,RAD17,RAD17,RAD17,RAD17,RAD17,RAD17 EXON Missense_I244M,Missense_I244M,Missense_I244M,Missense_I244M,Missense_I244M,Missense_I158M,Missense_I79M,Missense_I255M exm459018 5 68687690 [A/G] NM_133343,NM_133344,NM_133342,NM_133338,NM_002873,NM_133341,NM_133340,NM_133339 RAD17,RAD17,RAD17,RAD17,RAD17,RAD17,RAD17,RAD17 EXON Missense_M347V,Missense_M347V,Missense_M347V,Missense_M347V,Missense_M347V,Missense_M261V,Missense_M182V,Missense_M358V exm459025 5 68687792 [A/G] NM_133343,NM_133344,NM_133342,NM_133338,NM_002873,NM_133341,NM_133340,NM_133339 RAD17,RAD17,RAD17,RAD17,RAD17,RAD17,RAD17,RAD17 EXON Missense_V381I,Missense_V381I,Missense_V381I,Missense_V381I,Missense_V381I,Missense_V295I,Missense_V216I,Missense_V392I exm459031 5 68692227 [T/C] NM_133343,NM_133344,NM_133342,NM_133338,NM_002873,NM_133341,NM_133340,NM_133339 RAD17,RAD17,RAD17,RAD17,RAD17,RAD17,RAD17,RAD17 EXON Missense_R476C,Missense_R476C,Missense_R476C,Missense_R476C,Missense_R476C,Missense_R390C,Missense_R311C,Missense_R487C exm459036 5 68692367 [A/T] NM_133343,NM_133344,NM_133342,NM_133338,NM_002873,NM_133341,NM_133340,NM_133339 RAD17,RAD17,RAD17,RAD17,RAD17,RAD17,RAD17,RAD17 EXON Missense_N522K,Missense_N522K,Missense_N522K,Missense_N522K,Missense_N522K,Missense_N436K,Missense_N357K,Missense_N533K exm2103283 5 68695903 [A/G] NM_133343,NM_133344,NM_133342,NM_133338,NM_002873,NM_133341,NM_133340,NM_133339 RAD17,RAD17,RAD17,RAD17,RAD17,RAD17,RAD17,RAD17 EXON Missense_A534T,Missense_A534T,Missense_A534T,Missense_A534T,Missense_A534T,Missense_A448T,Missense_A369T,Missense_A545T exm459041 5 68695940 [T/G] NM_133343,NM_133344,NM_133342,NM_133338,NM_002873,NM_133341,NM_133340,NM_133339 RAD17,RAD17,RAD17,RAD17,RAD17,RAD17,RAD17,RAD17 EXON Missense_L546R,Missense_L546R,Missense_L546R,Missense_L546R,Missense_L546R,Missense_L460R,Missense_L381R,Missense_L557R exm459052 5 68709884 [A/G] NM_133343,NM_133344,NM_133342,NM_133338,NM_002873,NM_133341,NM_133340,NM_133339 RAD17,RAD17,RAD17,RAD17,RAD17,RAD17,RAD17,RAD17 EXON Missense_R593K,Missense_R593K,Missense_R593K,Missense_R593K,Missense_R593K,Missense_R507K,Missense_R428K,Missense_R604K exm459070 5 68715249 [T/C] NM_001038603,NM_001244734 MARVELD2,MARVELD2 EXON Missense_R13C,Missense_R13C exm459072 5 68715310 [T/C] NM_001038603,NM_001244734 MARVELD2,MARVELD2 EXON Missense_T33I,Missense_T33I exm459078 5 68715388 [T/C] NM_001038603,NM_001244734 MARVELD2,MARVELD2 EXON Missense_P59L,Missense_P59L exm2242659 5 68715423 [A/G] NM_001038603,NM_001244734 MARVELD2,MARVELD2 EXON Missense_I71V,Missense_I71V exm459081 5 68715500 [A/C] NM_001038603,NM_001244734 MARVELD2,MARVELD2 EXON Missense_D96E,Missense_D96E exm459083 5 68715576 [A/G] NM_001038603,NM_001244734 MARVELD2,MARVELD2 EXON Missense_A122T,Missense_A122T exm459084 5 68715601 [T/A] NM_001038603,NM_001244734 MARVELD2,MARVELD2 EXON Missense_L130H,Missense_L130H exm459094 5 68715712 [A/G] NM_001038603,NM_001244734 MARVELD2,MARVELD2 EXON Missense_Q167R,Missense_Q167R exm459095 5 68715720 [T/C] NM_001038603,NM_001244734 MARVELD2,MARVELD2 EXON Nonsense_R170X,Nonsense_R170X exm459098 5 68715797 [A/G] NM_001038603,NM_001244734 MARVELD2,MARVELD2 EXON Missense_I195M,Missense_I195M exm459099 5 68715804 [A/G] NM_001038603,NM_001244734 MARVELD2,MARVELD2 EXON Missense_V198M,Missense_V198M exm459108 5 68715940 [A/G] NM_001038603,NM_001244734 MARVELD2,MARVELD2 EXON Missense_Y243C,Missense_Y243C exm459115 5 68716110 [T/A] NM_001038603,NM_001244734 MARVELD2,MARVELD2 EXON Missense_L300M,Missense_L300M exm459120 5 68716161 [T/C] NM_001038603,NM_001244734 MARVELD2,MARVELD2 EXON Nonsense_R317X,Nonsense_R317X exm459121 5 68716162 [A/G] NM_001038603,NM_001244734 MARVELD2,MARVELD2 EXON Missense_R317Q,Missense_R317Q exm459123 5 68716245 [A/G] NM_001038603,NM_001244734 MARVELD2,MARVELD2 EXON Missense_M345V,Missense_M345V exm459125 5 68716312 [T/G] NM_001038603,NM_001244734 MARVELD2,MARVELD2 EXON Missense_R367M,Missense_R367M exm459130 5 68728353 [A/G] NM_001038603,NM_001244734 MARVELD2,MARVELD2 Silent,Silent exm459151 5 68804987 [C/G] NM_002538,NM_001205254,NM_001205255 OCLN,OCLN,OCLN EXON Missense_P24A,Missense_P24A,Silent exm459155 5 68805114 [T/G] NM_002538,NM_001205254,NM_001205255 OCLN,OCLN,OCLN EXON Missense_R66L,Missense_R66L,Silent exm2242660 5 68805249 [T/A] NM_002538,NM_001205254,NM_001205255 OCLN,OCLN,OCLN EXON Missense_F111Y,Missense_F111Y,Silent exm459165 5 68805369 [T/C] NM_002538,NM_001205254,NM_001205255 OCLN,OCLN,OCLN EXON Missense_A151V,Missense_A151V,Silent exm459167 5 68805372 [T/C] NM_002538,NM_001205254,NM_001205255 OCLN,OCLN,OCLN EXON Missense_A152V,Missense_A152V,Silent exm459256 5 70307162 [T/C] NM_022892,NM_004536 NAIP,NAIP EXON Silent,Missense_C203Y exm459259 5 70307189 [A/G] NM_022892,NM_004536 NAIP,NAIP EXON Silent,Missense_T194M exm459265 5 70308262 [T/C] NM_022892,NM_004536 NAIP,NAIP EXON Silent,Missense_A161T exm2103362 5 70308271 [C/G] NM_022892,NM_004536 NAIP,NAIP EXON Silent,Missense_E158Q exm459270 5 70308421 [T/C] NM_022892,NM_004536 NAIP,NAIP EXON Silent,Missense_G108S exm459275 5 70308554 [A/C] NM_022892,NM_004536 NAIP,NAIP EXON Silent,Missense_R63S exm2274076 5 70751781 [A/G] NM_018429 BDP1 EXON Missense_N26S exm459343 5 70754446 [A/G] NM_018429 BDP1 EXON Missense_S85G exm2103382 5 70754475 [T/A] NM_018429 BDP1 EXON Missense_R94S exm459347 5 70754567 [T/C] NM_018429 BDP1 EXON Missense_A125V exm459360 5 70759923 [T/C] NM_018429 BDP1 EXON Missense_S213L exm459382 5 70782319 [T/C] NM_018429 BDP1 EXON Missense_R360C exm459383 5 70782395 [C/G] NM_018429 BDP1 EXON Missense_S385C exm459385 5 70782439 [T/C] NM_018429 BDP1 EXON Missense_R400W exm459387 5 70785234 [A/G] NM_018429 BDP1 EXON Missense_K406R exm459392 5 70785311 [A/C] NM_018429 BDP1 EXON Missense_Q432K exm459393 5 70785335 [C/G] NM_018429 BDP1 EXON Missense_E440Q exm459399 5 70786830 [T/G] NM_018429 BDP1 EXON Missense_R504S exm459416 5 70793236 [A/G] NM_018429 BDP1 EXON Missense_K647E exm459419 5 70797426 [T/C] NM_018429 BDP1 EXON Missense_I665T exm459421 5 70797462 [A/G] NM_018429 BDP1 EXON Missense_E677G exm459428 5 70798488 [T/C] NM_018429 BDP1 EXON Missense_V704A exm459430 5 70798509 [G/C] NM_018429 BDP1 EXON Missense_P711R exm459433 5 70798541 [A/G] NM_018429 BDP1 EXON Missense_K722E exm459435 5 70798553 [T/A] NM_018429 BDP1 EXON Missense_I726L exm459443 5 70800538 [A/G] NM_018429 BDP1 EXON Missense_V778M exm459448 5 70805292 [T/C] NM_018429 BDP1 EXON Synonymous_S791S exm459453 5 70805429 [T/G] NM_018429 BDP1 EXON Missense_I837S exm459457 5 70805557 [A/G] NM_018429 BDP1 EXON Missense_R880G exm459462 5 70805666 [G/C] NM_018429 BDP1 EXON Missense_P916R exm459463 5 70805683 [A/G] NM_018429 BDP1 EXON Missense_T922A exm459475 5 70805962 [A/C] NM_018429 BDP1 EXON Missense_T1015P exm459476 5 70805984 [A/G] NM_018429 BDP1 EXON Missense_R1022K exm459477 5 70806005 [T/C] NM_018429 BDP1 EXON Missense_I1029T exm459482 5 70806131 [G/C] NM_018429 BDP1 EXON Missense_S1071T exm459489 5 70806283 [A/G] NM_018429 BDP1 EXON Missense_G1122R exm459498 5 70806457 [A/G] NM_018429 BDP1 EXON Missense_G1180S exm459502 5 70806521 [A/C] NM_018429 BDP1 EXON Missense_E1201A exm459507 5 70806607 [A/G] NM_018429 BDP1 EXON Missense_I1230V exm459510 5 70806649 [T/A] NM_018429 BDP1 EXON Missense_F1244I exm459520 5 70806958 [A/G] NM_018429 BDP1 EXON Missense_V1347M exm459525 5 70808073 [T/G] NM_018429 BDP1 EXON Missense_I1355M exm2274077 5 70808082 [A/C] NM_018429 BDP1 EXON Missense_E1358D exm459530 5 70808200 [A/G] NM_018429 BDP1 EXON Missense_V1398I exm459535 5 70809074 [G/C] NM_018429 BDP1 EXON Missense_R1437P exm459538 5 70809169 [A/G] NM_018429 BDP1 EXON Missense_K1469E exm459547 5 70810936 [T/G] NM_018429 BDP1 EXON Missense_V1546F exm459548 5 70811909 [A/C] NM_018429 BDP1 EXON Missense_F1557L exm459553 5 70811978 [A/C] NM_018429 BDP1 EXON Missense_R1580S exm459555 5 70811997 [A/G] NM_018429 BDP1 EXON Missense_G1587R exm459561 5 70813254 [A/G] NM_018429 BDP1 EXON Missense_V1656I exm459567 5 70818130 [A/C] NM_018429 BDP1 EXON Missense_P1669Q exm459568 5 70818150 [G/C] NM_018429 BDP1 EXON Missense_Q1676E exm459570 5 70818155 [C/G] NM_018429 BDP1 EXON Missense_M1677I exm459571 5 70818177 [C/G] NM_018429 BDP1 EXON Missense_A1685P exm459582 5 70819785 [A/G] NM_018429 BDP1 EXON Missense_E1803K exm2274078 5 70819909 [A/G] NM_018429 BDP1 EXON Missense_R1844H exm459586 5 70819926 [T/C] NM_018429 BDP1 EXON Missense_R1850W exm459588 5 70820001 [A/G] NM_018429 BDP1 EXON Missense_D1875N exm459594 5 70828207 [A/G] NM_018429 BDP1 EXON Missense_V1949M exm459595 5 70828213 [A/G] NM_018429 BDP1 EXON Missense_T1951A exm459604 5 70835389 [A/G] NM_018429 BDP1 EXON Missense_N1979D exm459611 5 70837295 [A/C] NM_018429 BDP1 EXON Missense_I2013L exm459612 5 70837301 [G/C] NM_018429 BDP1 EXON Missense_H2015D exm459624 5 70837954 [A/G] NM_018429 BDP1 EXON Missense_S2092G exm459627 5 70838050 [A/G] NM_018429 BDP1 EXON Missense_S2124G exm459635 5 70840903 [A/G] NM_018429 BDP1 EXON Missense_M2201V exm459636 5 70840909 [T/G] NM_018429 BDP1 EXON Missense_S2203A exm459637 5 70840912 [T/G] NM_018429 BDP1 EXON Missense_V2204F exm459647 5 70844518 [A/C] NM_018429 BDP1 EXON Missense_T2252P exm459648 5 70844525 [T/C] NM_018429 BDP1 EXON Missense_I2254T exm459654 5 70845400 [A/G] NM_018429 BDP1 EXON Missense_K2321R exm2257326 5 70848961 [T/G] NM_018429 BDP1 EXON Synonymous_T2338T exm459658 5 70848961 [T/G] NM_018429 BDP1 EXON Synonymous_T2338T exm459660 5 70848983 [G/C] NM_018429 BDP1 EXON Missense_G2346R exm459663 5 70849088 [T/C] NM_018429 BDP1 EXON Missense_P2381S exm459665 5 70849103 [T/C] NM_018429 BDP1 EXON Missense_R2386C exm2103484 5 70849136 [T/G] NM_018429 BDP1 EXON Missense_Y2397D exm459670 5 70855826 [G/C] NM_018429 BDP1 EXON Missense_Q2420E exm459671 5 70855830 [A/G] NM_018429 BDP1 EXON Missense_D2421G exm459672 5 70855862 [A/G] NM_018429 BDP1 EXON Missense_T2432A exm459680 5 70858208 [T/C] NM_018429 BDP1 EXON Missense_I2535T exm459684 5 70858268 [A/G] NM_018429 BDP1 EXON Missense_N2555S exm459694 5 70860663 [G/C] NM_018429 BDP1 EXON Missense_S2609C exm459709 5 70895499 [G/C] NM_022132 MCCC2 EXON Missense_E99Q exm459711 5 70895532 [A/G] NM_022132 MCCC2 EXON Missense_D110N exm459717 5 70898412 [T/C] NM_022132 MCCC2 EXON Missense_R155W exm459719 5 70900210 [A/G] NM_022132 MCCC2 EXON Missense_R180Q exm459721 5 70900270 [T/A] NM_022132 MCCC2 EXON Missense_I200N exm459724 5 70922543 [A/G] NM_022132 MCCC2 EXON Missense_R234H exm459739 5 70931069 [A/G] NM_022132 MCCC2 EXON Missense_R332Q exm459741 5 70936845 [A/G] NM_022132 MCCC2 EXON Missense_V339M exm459747 5 70942096 [A/G] NM_022132 MCCC2 EXON Missense_N403S exm459754 5 70945029 [T/C] NM_022132 MCCC2 EXON Missense_I441T exm459763 5 70945945 [A/G] NM_022132 MCCC2 EXON Missense_G475R exm459766 5 70945961 [A/G] NM_022132 MCCC2 EXON Missense_N480S exm459777 5 70948552 [C/G] NM_022132 MCCC2 EXON Missense_E515D exm459785 5 70952652 [A/G] NM_022132 MCCC2 EXON Missense_I553V exm459792 5 71015214 [A/G] NM_004291 CARTPT EXON Missense_E32K exm459799 5 71015709 [C/G] NM_004291 CARTPT EXON Missense_I54M exm459801 5 71015730 [G/C] NM_004291 CARTPT EXON Missense_L61F exm459802 5 71015744 [G/C] NM_004291 CARTPT EXON Missense_S66T exm459804 5 71015790 [A/G] NM_004291 CARTPT EXON Missense_M81I exm2257327 5 71199839 [T/C] exm459824 5 71403533 [A/G] NM_005909 MAP1B EXON Missense_I59V exm-rs2199161 5 71410356 [G/C] NM_005909 MAP1B Silent exm459826 5 71479599 [A/G] NM_005909 MAP1B EXON Missense_V106I exm459828 5 71482483 [A/G] NM_005909 MAP1B EXON Missense_V138M exm459874 5 71490953 [A/G] NM_005909 MAP1B EXON Missense_D591N exm459875 5 71490955 [A/C] NM_005909 MAP1B EXON Missense_D591E exm459877 5 71490962 [A/G] NM_005909 MAP1B EXON Missense_I594V exm459895 5 71491311 [A/G] NM_005909 MAP1B EXON Missense_K710R exm2103559 5 71491397 [A/G] NM_005909 MAP1B EXON Missense_A739T exm459904 5 71491568 [A/G] NM_005909 MAP1B EXON Missense_A796T exm459905 5 71491569 [T/C] NM_005909 MAP1B EXON Missense_A796V exm2257328 5 71491666 [T/C] NM_005909 MAP1B EXON Synonymous_S828S exm459916 5 71491782 [T/G] NM_005909 MAP1B EXON Missense_L867R exm459917 5 71491788 [A/G] NM_005909 MAP1B EXON Missense_E869G exm459921 5 71491850 [A/G] NM_005909 MAP1B EXON Missense_E890K exm459935 5 71492066 [A/G] NM_005909 MAP1B EXON Missense_V962I exm459951 5 71492289 [T/C] NM_005909 MAP1B EXON Missense_P1036L exm459957 5 71492418 [A/G] NM_005909 MAP1B EXON Missense_R1079Q exm459958 5 71492426 [A/G] NM_005909 MAP1B EXON Missense_A1082T exm459981 5 71493027 [T/C] NM_005909 MAP1B EXON Missense_T1282M exm459983 5 71493069 [T/C] NM_005909 MAP1B EXON Missense_P1296L exm459984 5 71493074 [T/C] NM_005909 MAP1B EXON Missense_S1298P exm459989 5 71493209 [A/G] NM_005909 MAP1B EXON Missense_E1343K exm459990 5 71493215 [T/G] NM_005909 MAP1B EXON Missense_S1345A exm2103578 5 71493251 [T/C] NM_005909 MAP1B EXON Missense_P1357S exm460003 5 71493498 [T/C] NM_005909 MAP1B EXON Missense_P1439L exm460009 5 71493749 [A/G] NM_005909 MAP1B EXON Missense_E1523K exm460016 5 71494083 [C/G] NM_005909 MAP1B EXON Missense_P1634R exm460019 5 71494208 [A/G] NM_005909 MAP1B EXON Missense_V1676M exm460033 5 71494666 [T/G] NM_005909 MAP1B EXON Missense_E1828D exm460034 5 71494694 [T/C] NM_005909 MAP1B EXON Missense_F1838L exm460042 5 71494931 [A/C] NM_005909 MAP1B EXON Missense_S1917R exm460050 5 71495025 [A/G] NM_005909 MAP1B EXON Missense_R1948Q exm460052 5 71495109 [A/C] NM_005909 MAP1B EXON Missense_K1976T exm2103595 5 71495189 [G/C] NM_005909 MAP1B EXON Missense_D2003H exm460064 5 71495352 [A/T] NM_005909 MAP1B EXON Missense_Y2057F exm2103599 5 71495805 [A/G] NM_005909 MAP1B EXON Missense_R2208H exm460095 5 71496159 [T/C] NM_005909 MAP1B EXON Missense_A2326V exm460103 5 71499554 [C/G] NM_005909 MAP1B EXON Missense_A2393P exm460117 5 71516795 [G/C] NM_015084 MRPS27 EXON Missense_Q396E exm2242684 5 71516912 [T/C] NM_015084 MRPS27 EXON Missense_T357A exm460126 5 71519644 [T/C] NM_015084 MRPS27 EXON Missense_T291A exm460128 5 71519664 [T/C] NM_015084 MRPS27 EXON Missense_G284D exm2275225 5 71521884 [T/C] NM_015084 MRPS27 EXON Synonymous_A279A exm460132 5 71521937 [T/C] NM_015084 MRPS27 EXON Missense_V262M exm460133 5 71521964 [A/G] NM_015084 MRPS27 EXON Missense_P253S exm2103619 5 71524160 [G/C] NM_015084 MRPS27 EXON Missense_L209F exm460145 5 71528272 [T/G] NM_015084 MRPS27 EXON Missense_S197R exm2270217 5 71549048 [T/C] NM_015084 MRPS27 Silent exm2257329 5 71593471 [T/C] NM_015084 MRPS27 EXON Synonymous_L70L exm2103638 5 71609943 [T/C] NM_015084 MRPS27 EXON Missense_K39R exm460161 5 71609959 [A/G] NM_015084 MRPS27 EXON Missense_Y34H exm460164 5 71615996 [A/G] NM_015084 MRPS27 EXON Missense_L18P exm460187 5 71622531 [T/C] NM_024754 PTCD2 EXON Missense_R105W exm460190 5 71627167 [C/G] NM_024754 PTCD2 EXON Missense_L145V exm460213 5 71648493 [A/T] NM_024754 PTCD2 EXON Missense_M285K exm2103654 5 71654202 [A/T] NM_024754 PTCD2 EXON Missense_M372K exm460220 5 71654220 [T/C] NM_024754 PTCD2 EXON Missense_F378S exm2257330 5 71674855 [A/G] exm-rs10515148 5 71716928 [G/C] exm460245 5 71739983 [T/A] NM_152625 ZNF366 EXON Missense_Q612L exm460251 5 71740073 [A/T] NM_152625 ZNF366 EXON Missense_L582Q exm460257 5 71743097 [T/C] NM_152625 ZNF366 EXON Missense_V558I exm460260 5 71743182 [A/G] NM_152625 ZNF366 EXON Synonymous_D529D exm2257331 5 71743182 [A/G] NM_152625 ZNF366 EXON Synonymous_D529D exm460277 5 71756161 [T/C] NM_152625 ZNF366 EXON Missense_R388Q exm2242688 5 71756226 [G/C] NM_152625 ZNF366 EXON Missense_I366M exm460298 5 71756654 [C/G] NM_152625 ZNF366 EXON Missense_E224Q exm460306 5 71756780 [G/C] NM_152625 ZNF366 EXON Missense_P182A exm460313 5 71756876 [T/C] NM_152625 ZNF366 EXON Missense_V150I exm460315 5 71756896 [T/C] NM_152625 ZNF366 EXON Missense_E143G exm460322 5 71756974 [A/G] NM_152625 ZNF366 EXON Missense_P117L exm460325 5 71756990 [A/G] NM_152625 ZNF366 EXON Missense_L112F exm460327 5 71757037 [A/G] NM_152625 ZNF366 EXON Missense_T96I exm460339 5 71757248 [A/G] NM_152625 ZNF366 EXON Missense_P26S exm460340 5 71757266 [T/C] NM_152625 ZNF366 EXON Missense_K20E exm460350 5 72144212 [G/C] NM_002270,NM_153188 TNPO1,TNPO1 EXON Missense_Q6E,Silent exm460356 5 72157659 [T/C] NM_002270,NM_153188 TNPO1,TNPO1 EXON Missense_S127F,Missense_S119F exm460362 5 72173137 [G/C] NM_002270,NM_153188 TNPO1,TNPO1 EXON Missense_P295R,Missense_P287R exm2103702 5 72173169 [T/C] NM_002270,NM_153188 TNPO1,TNPO1 EXON Missense_P306S,Missense_P298S exm460378 5 72184052 [T/C] NM_002270,NM_153188 TNPO1,TNPO1 EXON Missense_T484M,Missense_T476M exm460423 5 72313066 [A/G] NM_138782,NM_001146032 FCHO2,FCHO2 EXON Missense_A243T,Missense_A210T exm460424 5 72313079 [T/C] NM_138782,NM_001146032 FCHO2,FCHO2 EXON Missense_V247A,Missense_V214A exm460426 5 72333005 [T/C] NM_138782,NM_001146032 FCHO2,FCHO2 EXON Missense_P293S,Missense_P260S exm460432 5 72348183 [T/C] NM_138782,NM_001146032 FCHO2,FCHO2 EXON Missense_S341L,Missense_S308L exm460434 5 72348245 [A/C] NM_138782,NM_001146032 FCHO2,FCHO2 EXON Missense_M362L,Missense_M329L exm460436 5 72348272 [A/G] NM_138782,NM_001146032 FCHO2,FCHO2 EXON Missense_M371V,Missense_M338V exm460448 5 72364508 [A/G] NM_138782,NM_001146032 FCHO2,FCHO2 EXON Missense_N494S,Missense_N461S exm460451 5 72364574 [T/C] NM_138782,NM_001146032 FCHO2,FCHO2 EXON Missense_A516V,Missense_A483V exm460461 5 72374089 [A/G] NM_138782,NM_001146032 FCHO2,FCHO2 EXON Missense_E644K,Missense_E611K exm460470 5 72383464 [A/G] NM_138782,NM_001146032 FCHO2,FCHO2 EXON Missense_K765R,Missense_K732R exm460474 5 72383526 [A/G] NM_138782,NM_001146032 FCHO2,FCHO2 EXON Missense_E786K,Missense_E753K exm2103771 5 72419251 [C/G] NM_173490,NM_001161342 TMEM171,TMEM171 EXON Missense_H17Q,Missense_H17Q exm460478 5 72419267 [T/C] NM_173490,NM_001161342 TMEM171,TMEM171 EXON Missense_F23L,Missense_F23L exm460485 5 72419379 [A/G] NM_173490,NM_001161342 TMEM171,TMEM171 EXON Missense_K60R,Missense_K60R exm460487 5 72419402 [A/G] NM_173490,NM_001161342 TMEM171,TMEM171 EXON Missense_V68M,Missense_V68M exm460489 5 72419433 [A/G] NM_173490,NM_001161342 TMEM171,TMEM171 EXON Missense_R78H,Missense_R78H exm460490 5 72419438 [T/C] NM_173490,NM_001161342 TMEM171,TMEM171 EXON Missense_R80W,Missense_R80W exm460491 5 72419456 [C/G] NM_173490,NM_001161342 TMEM171,TMEM171 EXON Missense_R86G,Missense_R86G exm460492 5 72419457 [T/G] NM_173490,NM_001161342 TMEM171,TMEM171 EXON Missense_R86L,Missense_R86L exm460497 5 72419495 [G/C] NM_173490,NM_001161342 TMEM171,TMEM171 EXON Missense_R99G,Missense_R99G exm460507 5 72419617 [A/C] NM_173490,NM_001161342 TMEM171,TMEM171 EXON Missense_N139K,Missense_N139K exm460508 5 72419622 [T/C] NM_173490,NM_001161342 TMEM171,TMEM171 EXON Missense_A141V,Missense_A141V exm2103777 5 72419676 [A/G] NM_173490,NM_001161342 TMEM171,TMEM171 EXON Missense_G159E,Missense_G159E exm460523 5 72424282 [A/G] NM_173490,NM_001161342 TMEM171,TMEM171 EXON Missense_V236I,Missense_V236I exm460525 5 72424285 [A/G] NM_173490,NM_001161342 TMEM171,TMEM171 EXON Missense_A237T,Missense_A237T exm460526 5 72424313 [T/C] NM_173490,NM_001161342 TMEM171,TMEM171 EXON Missense_L246P,Missense_L246P exm460529 5 72427404 [G/C] NM_173490,NM_001161342 TMEM171,TMEM171 EXON Missense_D274E,Missense_D273E exm460531 5 72427429 [C/G] NM_173490,NM_001161342 TMEM171,TMEM171 EXON Missense_G283R,Missense_G282R exm460535 5 72427529 [A/C] NM_173490,NM_001161342 TMEM171,TMEM171 EXON Missense_P316H,Missense_P315H exm460540 5 72469090 [A/G] NM_153217 TMEM174 EXON Missense_R7H exm460543 5 72469133 [C/G] NM_153217 TMEM174 EXON Nonsense_Y21X exm460547 5 72469224 [T/A] NM_153217 TMEM174 EXON Missense_I52F exm2274079 5 72469286 [T/G] NM_153217 TMEM174 EXON Missense_Q72H exm460555 5 72469299 [A/G] NM_153217 TMEM174 EXON Missense_V77I exm460560 5 72469416 [A/G] NM_153217 TMEM174 EXON Missense_G116R exm460561 5 72469438 [T/C] NM_153217 TMEM174 EXON Missense_T123I exm460565 5 72469545 [T/A] NM_153217 TMEM174 EXON Missense_S159T exm460569 5 72469608 [A/C] NM_153217 TMEM174 EXON Missense_P180T exm460572 5 72469683 [A/G] NM_153217 TMEM174 EXON Missense_G205S exm460574 5 72469694 [C/G] NM_153217 TMEM174 EXON Missense_H208Q exm460577 5 72469919 [T/C] NM_153217 TMEM174 EXON Missense_T220I exm-rs7702331 5 72551134 [A/G] exm2257333 5 72579933 [A/G] exm2266089 5 72622740 [A/G] exm460588 5 72742882 [T/C] NM_004472 FOXD1 EXON Missense_S436G exm460612 5 72794525 [C/G] NM_001037637,NM_001207 BTF3,BTF3 EXON Missense_D11E,Silent exm460634 5 72798924 [A/G] NM_001037637,NM_001207 BTF3,BTF3 EXON Missense_E167K,Missense_E123K exm460642 5 72848659 [A/G] NM_023039 ANKRA2 EXON Missense_S302L exm460670 5 72858607 [A/G] NM_023039 ANKRA2 EXON Missense_H34Y exm460680 5 72864061 [A/C] NM_032175 UTP15 EXON Missense_T31N exm460682 5 72864078 [A/G] NM_032175 UTP15 EXON Missense_E37K exm460683 5 72864126 [A/G] NM_032175 UTP15 EXON Missense_N53D exm460690 5 72865470 [A/G] NM_032175 UTP15 EXON Missense_S173G exm2103836 5 72866450 [T/C] NM_032175 UTP15 EXON Missense_T196M exm460698 5 72868322 [T/C] NM_032175 UTP15 EXON Missense_Y228H exm460702 5 72868397 [T/G] NM_032175 UTP15 EXON Missense_C253G exm460711 5 72872856 [T/C] NM_032175 UTP15 EXON Missense_L297F exm460715 5 72873736 [T/A] NM_032175 UTP15 EXON Missense_H317L exm460718 5 72873768 [T/C] NM_032175 UTP15 EXON Missense_P328S exm460720 5 72873828 [T/C] NM_032175 UTP15 EXON Missense_R348W exm460723 5 72874584 [T/G] NM_032175 UTP15 EXON Missense_I351M exm460725 5 72874636 [A/G] NM_032175 UTP15 EXON Missense_K369E exm460728 5 72874672 [G/C] NM_032175 UTP15 EXON Missense_L381V exm460734 5 72875159 [A/G] NM_032175 UTP15 EXON Missense_R433K exm460741 5 72875875 [T/C] NM_032175 UTP15 EXON Missense_H505Y exm460742 5 72875903 [A/C] NM_032175 UTP15 EXON Missense_K514T exm460749 5 72980709 [T/C] NM_001080479,NM_001177693 ARHGEF28,ARHGEF28 EXON Synonymous_Y11Y,Synonymous_Y11Y exm460753 5 73045761 [A/G] NM_001080479,NM_001177693 ARHGEF28,ARHGEF28 EXON Missense_M45V,Missense_M45V exm460766 5 73048875 [A/G] NM_001080479,NM_001177693 ARHGEF28,ARHGEF28 EXON Missense_N108S,Missense_N108S exm460769 5 73048932 [G/C] NM_001080479,NM_001177693 ARHGEF28,ARHGEF28 EXON Missense_G127A,Missense_G127A exm460786 5 73072354 [T/C] NM_001080479,NM_001177693 ARHGEF28,ARHGEF28 EXON Missense_W225R,Missense_W225R exm460793 5 73072501 [T/G] NM_001080479,NM_001177693 ARHGEF28,ARHGEF28 EXON Missense_D274Y,Missense_D274Y exm460798 5 73076511 [A/C] NM_001080479,NM_001177693 ARHGEF28,ARHGEF28 EXON Missense_P284Q,Missense_P284Q exm460809 5 73091156 [A/C] NM_001080479,NM_001177693 ARHGEF28,ARHGEF28 EXON Missense_R322S,Missense_R322S exm460813 5 73091203 [C/G] NM_001080479,NM_001177693 ARHGEF28,ARHGEF28 EXON Missense_H337Q,Missense_H337Q exm460816 5 73128165 [T/C] NM_001080479,NM_001177693,NM_001244364 ARHGEF28,ARHGEF28,ARHGEF28 EXON Missense_R343C,Missense_R343C,Missense_R30C exm460817 5 73128166 [A/G] NM_001080479,NM_001177693,NM_001244364 ARHGEF28,ARHGEF28,ARHGEF28 EXON Missense_R343H,Missense_R343H,Missense_R30H exm460819 5 73128196 [T/C] NM_001080479,NM_001177693,NM_001244364 ARHGEF28,ARHGEF28,ARHGEF28 EXON Missense_P353L,Missense_P353L,Missense_P40L exm460827 5 73136428 [T/C] NM_001080479,NM_001177693,NM_001244364 ARHGEF28,ARHGEF28,ARHGEF28 EXON Missense_P424S,Missense_P424S,Missense_P111S exm460839 5 73142296 [T/C] NM_001080479,NM_001177693,NM_001244364 ARHGEF28,ARHGEF28,ARHGEF28 EXON Missense_S544L,Missense_S544L,Missense_S231L exm460842 5 73144829 [A/G] NM_001080479,NM_001177693,NM_001244364 ARHGEF28,ARHGEF28,ARHGEF28 EXON Missense_R555H,Missense_R555H,Missense_R242H exm460845 5 73144890 [A/T] NM_001080479,NM_001177693,NM_001244364 ARHGEF28,ARHGEF28,ARHGEF28 EXON Missense_L575F,Missense_L575F,Missense_L262F exm460846 5 73148481 [A/G] NM_001080479,NM_001177693,NM_001244364 ARHGEF28,ARHGEF28,ARHGEF28 EXON Missense_R585K,Missense_R585K,Missense_R272K exm460850 5 73148508 [A/G] NM_001080479,NM_001177693,NM_001244364 ARHGEF28,ARHGEF28,ARHGEF28 EXON Missense_R594K,Missense_R594K,Missense_R281K exm460853 5 73153552 [A/G] NM_001080479,NM_001177693,NM_001244364 ARHGEF28,ARHGEF28,ARHGEF28 EXON Missense_R621Q,Missense_R621Q,Missense_R308Q exm460854 5 73153555 [A/C] NM_001080479,NM_001177693,NM_001244364 ARHGEF28,ARHGEF28,ARHGEF28 EXON Missense_T622N,Missense_T622N,Missense_T309N exm460855 5 73153590 [T/C] NM_001080479,NM_001177693,NM_001244364 ARHGEF28,ARHGEF28,ARHGEF28 EXON Missense_R634W,Missense_R634W,Missense_R321W exm460858 5 73153949 [A/G] NM_001080479,NM_001177693,NM_001244364 ARHGEF28,ARHGEF28,ARHGEF28 EXON Missense_N651S,Missense_N651S,Missense_N338S exm460862 5 73153979 [T/C] NM_001080479,NM_001177693,NM_001244364 ARHGEF28,ARHGEF28,ARHGEF28 EXON Missense_S661F,Missense_S661F,Missense_S348F exm460873 5 73163757 [A/G] NM_001080479,NM_001177693,NM_001244364 ARHGEF28,ARHGEF28,ARHGEF28 EXON Missense_V737M,Missense_V737M,Missense_V424M exm460878 5 73163965 [A/C] NM_001080479,NM_001177693,NM_001244364 ARHGEF28,ARHGEF28,ARHGEF28 EXON Missense_H780N,Missense_H780N,Missense_H467N exm460902 5 73181690 [A/G] NM_001080479,NM_001177693,NM_001244364 ARHGEF28,ARHGEF28,ARHGEF28 EXON Missense_H1024R,Missense_H1024R,Missense_H711R exm460903 5 73181701 [T/C] NM_001080479,NM_001177693,NM_001244364 ARHGEF28,ARHGEF28,ARHGEF28 EXON Missense_R1028C,Missense_R1028C,Missense_R715C exm2103884 5 73181702 [A/G] NM_001080479,NM_001177693,NM_001244364 ARHGEF28,ARHGEF28,ARHGEF28 EXON Missense_R1028H,Missense_R1028H,Missense_R715H exm460907 5 73181756 [A/G] NM_001080479,NM_001177693,NM_001244364 ARHGEF28,ARHGEF28,ARHGEF28 EXON Missense_N1046S,Missense_N1046S,Missense_N733S exm460915 5 73181921 [A/G] NM_001080479,NM_001177693,NM_001244364 ARHGEF28,ARHGEF28,ARHGEF28 EXON Missense_R1101H,Missense_R1101H,Missense_R788H exm460926 5 73188022 [A/G] NM_001080479,NM_001177693,NM_001244364 ARHGEF28,ARHGEF28,ARHGEF28 EXON Missense_N1178S,Missense_N1178S,Missense_N865S exm460927 5 73188033 [T/C] NM_001080479,NM_001177693,NM_001244364 ARHGEF28,ARHGEF28,ARHGEF28 EXON Missense_R1182W,Missense_R1182W,Missense_R869W exm460928 5 73188034 [A/G] NM_001080479,NM_001177693,NM_001244364 ARHGEF28,ARHGEF28,ARHGEF28 EXON Missense_R1182Q,Missense_R1182Q,Missense_R869Q exm460929 5 73189087 [T/G] NM_001080479,NM_001177693,NM_001244364 ARHGEF28,ARHGEF28,ARHGEF28 EXON Missense_R1211I,Missense_R1211I,Missense_R898I exm460948 5 73197089 [A/G] NM_001080479,NM_001177693,NM_001244364 ARHGEF28,ARHGEF28,ARHGEF28 EXON Missense_V1352I,Missense_V1352I,Missense_V1039I exm460952 5 73205247 [A/C] NM_001080479,NM_001177693,NM_001244364 ARHGEF28,ARHGEF28,ARHGEF28 EXON Missense_T1391N,Missense_T1391N,Missense_T1078N exm460954 5 73205382 [A/G] NM_001080479,NM_001177693,NM_001244364 ARHGEF28,ARHGEF28,ARHGEF28 EXON Missense_E1436G,Missense_E1436G,Missense_E1123G exm460959 5 73205717 [T/C] NM_001080479,NM_001177693,NM_001244364 ARHGEF28,ARHGEF28,ARHGEF28 EXON Missense_P1548S,Missense_P1548S,Missense_P1235S exm460960 5 73207116 [A/G] NM_001080479,NM_001177693,NM_001244364 ARHGEF28,ARHGEF28,ARHGEF28 EXON Missense_R1555Q,Missense_R1555Q,Missense_R1242Q exm460964 5 73207340 [A/G] NM_001080479,NM_001177693,NM_001244364 ARHGEF28,ARHGEF28,ARHGEF28 EXON Missense_A1630T,Missense_A1630T,Missense_A1317T exm460966 5 73207355 [T/C] NM_001080479,NM_001177693,NM_001244364 ARHGEF28,ARHGEF28,ARHGEF28 EXON Nonsense_Q1635X,Nonsense_Q1635X,Nonsense_Q1322X exm460967 5 73207372 [A/T] NM_001080479,NM_001177693,NM_001244364 ARHGEF28,ARHGEF28,ARHGEF28 EXON Missense_H1640Q,Missense_H1640Q,Missense_H1327Q exm-rs16871023 5 73215237 [A/G] NM_001080479,NM_001177693,NM_001244364 ARHGEF28,ARHGEF28,ARHGEF28 Silent,Silent,Silent exm460968 5 73218954 [T/C] NM_001080479,NM_001177693,NM_001244364 ARHGEF28,ARHGEF28,ARHGEF28 EXON Missense_P1664L,Silent,Silent exm2257335 5 73231666 [A/C] NM_001080479,NM_001177693,NM_001244364 ARHGEF28,ARHGEF28,ARHGEF28 Silent,Silent,Silent exm2242697 5 73236680 [T/C] NM_001080479,NM_001177693,NM_001244364 ARHGEF28,ARHGEF28,ARHGEF28 EXON Missense_S1680P,Missense_S1654P,Missense_S1341P exm2264144 5 73311323 [A/C] exm-rs285599 5 73339114 [T/C] exm2270071 5 73397666 [T/G] exm-rs4479825 5 73527328 [T/G] exm460992 5 73931260 [T/C] NM_003633,NM_001256576,NR_046318,NM_001256574,NM_001256575 ENC1,ENC1,ENC1,ENC1,ENC1 EXON Missense_E351K,Missense_E278K,Silent,Missense_E351K,Missense_E351K exm461023 5 73932199 [T/G] NM_003633,NM_001256576,NR_046318,NM_001256574,NM_001256575 ENC1,ENC1,ENC1,ENC1,ENC1 EXON Missense_L38I,Silent,Silent,Missense_L38I,Missense_L38I exm461031 5 73981299 [T/C] NM_000521 HEXB EXON Missense_L72F exm461037 5 73985215 [A/G] NM_000521 HEXB EXON Missense_K121R exm461038 5 73985236 [T/G] NM_000521 HEXB EXON Missense_L128R exm2265959 5 73986648 [A/G] NM_000521 HEXB Silent exm461042 5 73989467 [A/C] NM_000521 HEXB EXON Missense_T150N exm461044 5 73992545 [A/G] NM_000521 HEXB EXON Missense_Y180C exm461047 5 73992881 [A/G] NM_000521 HEXB EXON Missense_I207V exm461051 5 74001089 [A/G] NM_000521 HEXB EXON Missense_V239I exm461061 5 74011355 [C/G] NM_000521 HEXB EXON Missense_P308A exm2103942 5 74014626 [T/C] NM_000521 HEXB EXON Missense_A416V exm461072 5 74014629 [T/C] NM_000521 HEXB EXON Missense_P417L exm461073 5 74014637 [A/G] NM_000521 HEXB EXON Missense_I420V exm2275282 5 74014795 [T/C] NM_000521 HEXB EXON Synonymous_G472G exm461080 5 74016272 [A/C] NM_000521 HEXB EXON Missense_Q479H exm461086 5 74016571 [A/G] NM_000521 HEXB EXON Missense_E538K exm461089 5 74016956 [A/G] NM_000521 HEXB EXON Missense_A543T exm461091 5 74016996 [T/C] NM_000521 HEXB EXON Missense_M556T exm461095 5 74017499 [T/C] NM_170691,NM_032380 GFM2,GFM2 EXON Missense_R727Q,Missense_R774Q exm461097 5 74017589 [T/C] NM_170691,NM_032380 GFM2,GFM2 EXON Missense_R697Q,Missense_R744Q exm461098 5 74017590 [G/C] NM_170691,NM_032380 GFM2,GFM2 EXON Missense_R697G,Missense_R744G exm461102 5 74018232 [A/G] NM_170691,NM_032380 GFM2,GFM2 EXON Missense_I681T,Missense_I728T exm2242698 5 74021473 [T/C] NM_170691,NM_032380 GFM2,GFM2 EXON Missense_V627M,Missense_V674M exm461107 5 74021509 [A/T] NM_170691,NM_032380 GFM2,GFM2 EXON Missense_S615T,Missense_S662T exm461111 5 74021793 [T/C] NM_170691,NM_032380 GFM2,GFM2 EXON Missense_N582D,Missense_N629D exm461112 5 74021798 [A/G] NM_170691,NM_032380 GFM2,GFM2 EXON Missense_I580T,Missense_I627T exm461115 5 74021853 [A/T] NM_170691,NM_032380 GFM2,GFM2 EXON Missense_F562I,Missense_F609I exm461119 5 74021950 [T/A] NM_170691,NM_032380 GFM2,GFM2 EXON Missense_D529E,Missense_D576E exm461121 5 74026093 [T/C] NM_170691,NM_032380 GFM2,GFM2 EXON Missense_R526H,Missense_R573H exm461134 5 74032707 [A/G] NM_170691,NM_032380,NM_170681 GFM2,GFM2,GFM2 EXON Missense_A428V,Missense_A475V,Missense_A475V exm461135 5 74032747 [T/C] NM_170691,NM_032380,NM_170681 GFM2,GFM2,GFM2 EXON Missense_E415K,Missense_E462K,Missense_E462K exm461139 5 74034229 [A/G] NM_170691,NM_032380,NM_170681 GFM2,GFM2,GFM2 EXON Missense_R365C,Missense_R412C,Missense_R412C exm461143 5 74034400 [C/G] NM_170691,NM_032380,NM_170681 GFM2,GFM2,GFM2 EXON Silent,Missense_L383V,Missense_L383V exm2103971 5 74034453 [T/C] NM_170691,NM_032380,NM_170681 GFM2,GFM2,GFM2 EXON Silent,Missense_D365G,Missense_D365G exm461147 5 74035823 [T/C] NM_170691,NM_032380,NM_170681 GFM2,GFM2,GFM2 EXON Missense_Y357C,Missense_Y357C,Missense_Y357C exm461150 5 74035892 [T/C] NM_170691,NM_032380,NM_170681 GFM2,GFM2,GFM2 EXON Missense_K334R,Missense_K334R,Missense_K334R exm461151 5 74035914 [A/C] NM_170691,NM_032380,NM_170681 GFM2,GFM2,GFM2 EXON Missense_V327L,Missense_V327L,Missense_V327L exm461152 5 74035959 [G/C] NM_170691,NM_032380,NM_170681 GFM2,GFM2,GFM2 EXON Missense_Q312E,Missense_Q312E,Missense_Q312E exm461155 5 74037386 [T/A] NM_170691,NM_032380,NM_170681 GFM2,GFM2,GFM2 EXON Missense_S300C,Missense_S300C,Missense_S300C exm461160 5 74041649 [T/C] NM_170691,NM_032380,NM_170681 GFM2,GFM2,GFM2 EXON Missense_V235M,Missense_V235M,Missense_V235M exm461172 5 74046463 [A/G] NM_170691,NM_032380,NM_170681 GFM2,GFM2,GFM2 EXON Missense_R154W,Missense_R154W,Missense_R154W exm461187 5 74055209 [T/C] NM_170691,NM_032380,NM_170681 GFM2,GFM2,GFM2 EXON Missense_N64S,Missense_N64S,Missense_N64S exm2103990 5 74055222 [T/G] NM_170691,NM_032380,NM_170681 GFM2,GFM2,GFM2 EXON Missense_H60N,Missense_H60N,Missense_H60N exm461191 5 74056738 [A/C] NM_170691,NM_032380,NM_170681 GFM2,GFM2,GFM2 EXON Missense_S46I,Missense_S46I,Missense_S46I exm461197 5 74059525 [T/C] NM_170691,NM_032380,NM_170681 GFM2,GFM2,GFM2 EXON Missense_I15V,Missense_I15V,Missense_I15V exm461198 5 74059540 [T/C] NM_170691,NM_032380,NM_170681 GFM2,GFM2,GFM2 EXON Missense_M10V,Missense_M10V,Missense_M10V exm461216 5 74065169 [A/C] NM_001271665,NR_073403,NM_014886 NSA2,NSA2,NSA2 EXON Missense_Q108K,Silent,Missense_Q108K exm461218 5 74065176 [A/G] NM_001271665,NR_073403,NM_014886 NSA2,NSA2,NSA2 EXON Missense_R110K,Silent,Missense_R110K exm-rs6874609 5 74069863 [A/G] NM_001271665,NR_073403,NM_014886 NSA2,NSA2,NSA2 EXON Silent,Silent,Synonymous_T231T exm461246 5 74077703 [A/G] NR_046462,NM_015566 FAM169A,FAM169A EXON Silent,Missense_T532I exm461248 5 74077767 [T/C] NR_046462,NM_015566 FAM169A,FAM169A EXON Silent,Missense_E511K exm461260 5 74091908 [T/C] NR_046462,NM_015566 FAM169A,FAM169A EXON Silent,Missense_A403T exm461261 5 74091931 [T/C] NR_046462,NM_015566 FAM169A,FAM169A EXON Silent,Missense_E395G exm461287 5 74109839 [T/C] NR_046462,NM_015566 FAM169A,FAM169A EXON Silent,Missense_I166V exm461300 5 74137371 [A/G] NR_046462,NM_015566 FAM169A,FAM169A EXON Silent,Missense_T44M exm2265960 5 74302658 [A/G] exm461306 5 74324548 [A/G] NM_016591 GCNT4 EXON Missense_P439S exm461314 5 74324898 [T/C] NM_016591 GCNT4 EXON Missense_Q322R exm461316 5 74324902 [T/C] NM_016591 GCNT4 EXON Missense_V321I exm461326 5 74325045 [T/C] NM_016591 GCNT4 EXON Missense_R273Q exm2242700 5 74325298 [A/C] NM_016591 GCNT4 EXON Missense_A189S exm461338 5 74325372 [T/C] NM_016591 GCNT4 EXON Missense_Y164C exm461341 5 74325406 [T/C] NM_016591 GCNT4 EXON Missense_I153V exm461346 5 74325523 [G/C] NM_016591 GCNT4 EXON Missense_Q114E exm461348 5 74325613 [T/C] NM_016591 GCNT4 EXON Missense_I84V exm461362 5 74325853 [A/G] NM_016591 GCNT4 EXON Missense_F4L exm2270218 5 74350090 [T/C] exm461369 5 74400151 [A/C] NM_001164443 ANKRD31 EXON Missense_Y1688D exm461373 5 74400324 [T/C] NM_001164443 ANKRD31 EXON Missense_G1630E exm461374 5 74400378 [T/C] NM_001164443 ANKRD31 EXON Missense_N1612S exm461375 5 74400386 [G/C] NM_001164443 ANKRD31 EXON Missense_D1609E exm461376 5 74400400 [T/C] NM_001164443 ANKRD31 EXON Missense_I1605V exm461377 5 74400466 [T/C] NM_001164443 ANKRD31 EXON Missense_G1583S exm461378 5 74400505 [T/C] NM_001164443 ANKRD31 EXON Missense_D1570N exm461379 5 74400516 [G/C] NM_001164443 ANKRD31 EXON Missense_T1566R exm461382 5 74400613 [A/G] NM_001164443 ANKRD31 EXON Missense_S1534P exm461393 5 74412488 [T/C] NM_001164443 ANKRD31 EXON Missense_R1296Q exm2242703 5 74434718 [T/G] NM_001164443 ANKRD31 EXON Missense_K1172T exm461405 5 74442556 [T/C] NM_001164443 ANKRD31 EXON Missense_V894I exm461408 5 74442748 [T/C] NM_001164443 ANKRD31 EXON Missense_D830N exm2257338 5 74442920 [A/G] NM_001164443 ANKRD31 EXON Synonymous_T772T exm461416 5 74442964 [T/C] NM_001164443 ANKRD31 EXON Missense_R758G exm461420 5 74443132 [T/C] NM_001164443 ANKRD31 EXON Missense_D702N exm461431 5 74464817 [T/C] NM_001164443 ANKRD31 EXON Missense_N565S exm461432 5 74464842 [T/C] NM_001164443 ANKRD31 EXON Missense_T557A exm461442 5 74488590 [A/G] NM_001164443 ANKRD31 EXON Missense_P437L exm2242704 5 74489282 [G/C] NM_001164443 ANKRD31 EXON Missense_L384F exm461451 5 74491742 [T/C] NM_001164443 ANKRD31 EXON Missense_S244N exm461455 5 74491898 [A/T] NM_001164443 ANKRD31 EXON Missense_N192I exm461456 5 74491956 [T/C] NM_001164443 ANKRD31 EXON Missense_T173A exm461461 5 74518181 [T/C] NM_001164443 ANKRD31 EXON Missense_M61V exm-rs7703051 5 74625487 [A/C] exm461466 5 74638536 [A/G] NM_000859,NM_001130996 HMGCR,HMGCR EXON Missense_M36V,Missense_M36V exm461475 5 74645921 [A/G] NM_000859,NM_001130996 HMGCR,HMGCR EXON Missense_N204S,Missense_N204S exm461483 5 74646765 [A/C] NM_000859,NM_001130996 HMGCR,HMGCR EXON Missense_Y311S,Missense_Y311S exm461486 5 74647013 [C/G] NM_000859,NM_001130996 HMGCR,HMGCR EXON Missense_I354M,Missense_I354M exm461490 5 74647292 [C/G] NM_000859,NM_001130996 HMGCR,HMGCR EXON Missense_N411K,Missense_N411K exm-rs12654264 5 74648603 [T/A] NM_000859,NM_001130996 HMGCR,HMGCR Silent,Silent exm-rs3846662 5 74651084 [A/G] NM_000859,NM_001130996 HMGCR,HMGCR Silent,Silent exm461500 5 74652199 [A/G] NM_000859,NM_001130996 HMGCR,HMGCR EXON Missense_I638V,Missense_I585V exm-rs3846663 5 74655726 [T/C] NM_000859,NM_001130996 HMGCR,HMGCR Silent,Silent exm461527 5 74675250 [T/C] NM_031361,NM_001130105,NM_005713 COL4A3BP,COL4A3BP,COL4A3BP EXON Missense_K573R,Missense_K727R,Missense_K599R exm461563 5 74715213 [T/C] NM_031361,NM_001130105,NM_005713 COL4A3BP,COL4A3BP,COL4A3BP EXON Missense_R211H,Missense_R339H,Missense_R211H exm461564 5 74715216 [A/G] NM_031361,NM_001130105,NM_005713 COL4A3BP,COL4A3BP,COL4A3BP EXON Missense_T210M,Missense_T338M,Missense_T210M exm461568 5 74721308 [T/C] NM_031361,NM_001130105,NM_005713 COL4A3BP,COL4A3BP,COL4A3BP EXON Missense_R158H,Missense_R286H,Missense_R158H exm461582 5 74807200 [G/C] NM_031361,NM_001130105,NM_005713 COL4A3BP,COL4A3BP,COL4A3BP EXON Silent,Missense_R73G,Silent exm461585 5 74807615 [A/C] NM_001130105 COL4A3BP EXON Missense_F19V exm461592 5 74842932 [A/G] NM_016218 POLK EXON Missense_E29K exm2242710 5 74865291 [A/G] NM_016218 POLK EXON Missense_I128V exm461605 5 74869659 [A/C] NM_016218 POLK EXON Missense_P169T exm461610 5 74872656 [A/G] NM_016218 POLK EXON Missense_D198N exm461617 5 74877075 [T/C] NM_016218 POLK EXON Nonsense_R246X exm461625 5 74877213 [A/G] NM_016218 POLK EXON Missense_E292K exm461626 5 74877231 [T/C] NM_016218 POLK EXON Missense_R298C exm461627 5 74877232 [A/G] NM_016218 POLK EXON Missense_R298H exm461634 5 74880616 [T/C] NM_016218 POLK EXON Missense_M364T exm461638 5 74880733 [A/G] NM_016218 POLK EXON Missense_G403D exm461644 5 74886176 [A/C] NM_016218 POLK EXON Missense_S423R exm461656 5 74892103 [A/G] NM_016218 POLK EXON Missense_I529V exm461670 5 74892352 [A/G] NM_016218 POLK EXON Missense_I612V exm461671 5 74892422 [A/G] NM_016218 POLK EXON Missense_S635N exm461676 5 74892550 [T/G] NM_016218 POLK EXON Missense_S678A exm461678 5 74892610 [T/G] NM_016218 POLK EXON Missense_V698L exm461688 5 74892778 [A/G] NM_016218 POLK EXON Missense_E754K exm461692 5 74892973 [A/C] NM_016218 POLK EXON Missense_N819H exm461694 5 74893581 [A/G] NM_016218 POLK EXON Missense_S832N exm2270072 5 74967386 [T/C] exm2242714 5 74970024 [T/C] NM_001099271,NM_152408 POC5,POC5 EXON Silent,Silent exm461711 5 74981103 [T/C] NM_001099271,NM_152408 POC5,POC5 EXON Missense_A446T,Missense_A421T exm461714 5 74981145 [T/C] NM_001099271,NM_152408 POC5,POC5 EXON Missense_V432I,Missense_V407I exm461715 5 74981153 [A/G] NM_001099271,NM_152408 POC5,POC5 EXON Missense_A429V,Missense_A404V exm461716 5 74981154 [T/C] NM_001099271,NM_152408 POC5,POC5 EXON Missense_A429T,Missense_A404T exm461721 5 74981187 [C/G] NM_001099271,NM_152408 POC5,POC5 EXON Missense_P418A,Missense_P393A exm461723 5 74981208 [A/G] NM_001099271,NM_152408 POC5,POC5 EXON Missense_P411S,Missense_P386S exm461732 5 74986278 [T/C] NM_001099271,NM_152408 POC5,POC5 EXON Missense_R302K,Missense_R277K exm2104179 5 74988249 [T/C] NM_001099271,NM_152408 POC5,POC5 EXON Missense_R256Q,Missense_R231Q exm461740 5 74990497 [T/C] NM_001099271,NM_152408 POC5,POC5 EXON Missense_I225V,Missense_I200V exm461751 5 74998501 [T/C] NM_001099271,NM_152408 POC5,POC5 EXON Missense_D148N,Missense_D123N exm461753 5 74998606 [A/G] NM_001099271,NM_152408 POC5,POC5 EXON Missense_P113S,Missense_P88S exm461756 5 75001582 [A/G] NM_001099271,NM_152408 POC5,POC5 EXON Missense_I85T,Missense_I60T exm461757 5 75001590 [T/A] NM_001099271,NM_152408 POC5,POC5 EXON Missense_E82D,Missense_E57D exm461763 5 75003678 [T/C] NM_001099271,NM_152408 POC5,POC5 EXON Missense_H36R,Missense_H11R exm461767 5 75008679 [T/C] NM_001099271 POC5 EXON Synonymous_Q28Q exm461769 5 75008702 [A/T] NM_001099271 POC5 EXON Missense_S21C exm-rs2112347 5 75015242 [T/G] exm2266090 5 75200884 [A/G] exm2270073 5 75306838 [T/C] exm461772 5 75427584 [A/C] NM_014979 SV2C EXON Missense_D3E exm461775 5 75427627 [A/C] NM_014979 SV2C EXON Missense_I18L exm461796 5 75428021 [A/G] NM_014979 SV2C EXON Missense_R149H exm461799 5 75428074 [A/G] NM_014979 SV2C EXON Missense_V167I exm461833 5 75490776 [T/G] NM_014979 SV2C EXON Missense_A205S exm461835 5 75490853 [A/C] NM_014979 SV2C EXON Missense_F230L exm461836 5 75490873 [T/C] NM_014979 SV2C EXON Missense_F237S exm461841 5 75505622 [T/C] NM_014979 SV2C EXON Missense_R275W exm461850 5 75505704 [T/C] NM_014979 SV2C EXON Missense_P302L exm461855 5 75581068 [T/C] NM_014979 SV2C EXON Missense_S332F exm461866 5 75587140 [A/G] NM_014979 SV2C EXON Missense_R411H exm461874 5 75591710 [G/C] NM_014979 SV2C EXON Missense_T482S exm461878 5 75594624 [T/C] NM_014979 SV2C EXON Missense_I503T exm461881 5 75594743 [A/G] NM_014979 SV2C EXON Missense_D543N exm461886 5 75596612 [A/C] NM_014979 SV2C EXON Missense_N565K exm461896 5 75597301 [A/G] NM_014979 SV2C EXON Missense_N644S exm461900 5 75597367 [A/G] NM_014979 SV2C EXON Missense_R666Q exm-rs4326119 5 75778642 [A/C] NM_006633 IQGAP2 Silent exm2270074 5 75839165 [T/C] NM_006633 IQGAP2 Silent exm461928 5 75866423 [T/C] NM_006633 IQGAP2 EXON Nonsense_R108X exm461944 5 75886234 [A/G] NM_006633 IQGAP2 EXON Synonymous_L214L exm461945 5 75886235 [C/G] NM_006633 IQGAP2 EXON Missense_H215D exm461946 5 75886262 [A/G] NM_006633 IQGAP2 EXON Missense_A224T exm461947 5 75886292 [A/G] NM_006633 IQGAP2 EXON Missense_V234I exm461948 5 75886313 [A/C] NM_006633 IQGAP2 EXON Missense_N241H exm461962 5 75893314 [A/G] NM_006633 IQGAP2 EXON Missense_E320K exm2242720 5 75893336 [A/G] NM_006633 IQGAP2 EXON Missense_K327R exm2274080 5 75893411 [A/G] NM_006633 IQGAP2 EXON Missense_Q352R exm461977 5 75902053 [T/C] NM_006633 IQGAP2 EXON Nonsense_Q428X exm461978 5 75902095 [A/G] NM_006633 IQGAP2 EXON Missense_M442V exm461982 5 75906851 [T/C] NM_006633 IQGAP2 EXON Missense_V455A exm2104260 5 75906923 [A/C] NM_006633 IQGAP2 EXON Missense_P479H exm462000 5 75913784 [T/C] NM_006633,NM_004101,NM_001256566 IQGAP2,F2RL2,F2RL2 EXON Silent,Missense_N250D,Missense_N228D exm462004 5 75913844 [T/G] NM_006633,NM_004101,NM_001256566 IQGAP2,F2RL2,F2RL2 EXON Silent,Missense_I230L,Missense_I208L exm462006 5 75913853 [A/G] NM_006633,NM_004101,NM_001256566 IQGAP2,F2RL2,F2RL2 EXON Silent,Missense_P227S,Missense_P205S exm462010 5 75913927 [T/C] NM_006633,NM_004101,NM_001256566 IQGAP2,F2RL2,F2RL2 EXON Silent,Missense_R202Q,Missense_R180Q exm462012 5 75913949 [A/T] NM_006633,NM_004101,NM_001256566 IQGAP2,F2RL2,F2RL2 EXON Silent,Missense_I195F,Missense_I173F exm462018 5 75914003 [T/C] NM_006633,NM_004101,NM_001256566 IQGAP2,F2RL2,F2RL2 EXON Silent,Missense_M177V,Missense_M155V exm462032 5 75914369 [T/C] NM_006633,NM_004101,NM_001256566 IQGAP2,F2RL2,F2RL2 EXON Silent,Missense_A55T,Missense_A33T exm462040 5 75919012 [A/G] NM_006633,NM_004101,NM_001256566 IQGAP2,F2RL2,F2RL2 EXON Silent,Missense_L15S,Silent exm-rs457717 5 75920972 [A/G] NM_006633 IQGAP2 Silent exm462045 5 75923294 [T/G] NM_006633 IQGAP2 EXON Missense_D527E exm462048 5 75923307 [A/G] NM_006633 IQGAP2 EXON Missense_K532E exm462061 5 75932965 [G/C] NM_006633 IQGAP2 EXON Missense_L629F exm462066 5 75936773 [C/G] NM_006633 IQGAP2 EXON Missense_V647L exm462069 5 75936836 [A/C] NM_006633 IQGAP2 EXON Missense_Q668K exm462073 5 75936917 [A/G] NM_006633 IQGAP2 EXON Missense_V695I exm462078 5 75948600 [A/G] NM_006633 IQGAP2 EXON Missense_R707Q exm462081 5 75948620 [T/C] NM_006633 IQGAP2 EXON Missense_R714W exm462082 5 75948650 [A/G] NM_006633 IQGAP2 EXON Missense_I724V exm462099 5 75960968 [G/C] NM_006633 IQGAP2 EXON Missense_E883Q exm462103 5 75964507 [T/C] NM_006633 IQGAP2 EXON Missense_T894I exm462116 5 75969360 [T/G] NM_006633 IQGAP2 EXON Missense_R1052I exm462119 5 75969371 [A/G] NM_006633 IQGAP2 EXON Missense_D1056N exm462121 5 75969389 [A/G] NM_006633 IQGAP2 EXON Missense_I1062V exm462122 5 75969414 [T/C] NM_006633 IQGAP2 EXON Missense_P1070L exm462126 5 75969841 [A/G] NM_006633 IQGAP2 EXON Missense_T1092A exm462132 5 75970482 [A/G] NM_006633 IQGAP2 EXON Missense_E1159K exm2104303 5 75970486 [T/A] NM_006633 IQGAP2 EXON Missense_H1160L exm462137 5 75973043 [A/G] NM_006633 IQGAP2 EXON Synonymous_R1176R exm462138 5 75973066 [A/G] NM_006633 IQGAP2 EXON Missense_N1184S exm462139 5 75973081 [A/C] NM_006633 IQGAP2 EXON Missense_E1189A exm462147 5 75979027 [A/G] NM_006633 IQGAP2 EXON Missense_V1250M exm462162 5 75991346 [A/G] NM_006633 IQGAP2 EXON Missense_K1354R exm462165 5 75991420 [T/C] NM_006633 IQGAP2 EXON Missense_R1379W exm462178 5 75996909 [A/G] NM_006633 IQGAP2 EXON Missense_R1459Q exm462188 5 75997025 [T/C] NM_006633 IQGAP2 EXON Missense_L1498F exm462189 5 75997035 [A/G] NM_006633 IQGAP2 EXON Missense_N1501S exm462194 5 75998391 [A/G] NM_006633 IQGAP2 EXON Missense_M1530I exm462195 5 75998393 [A/G] NM_006633 IQGAP2 EXON Missense_E1531G exm2273406 5 76003258 [T/C] NM_006633 IQGAP2 EXON Silent exm462235 5 76028769 [A/G] NM_001992 F2R EXON Missense_K240R exm462243 5 76028891 [T/G] NM_001992 F2R EXON Missense_V281L exm462251 5 76029113 [T/C] NM_001992 F2R EXON Missense_L355F exm462258 5 76029192 [A/G] NM_001992 F2R EXON Missense_Y381C exm462259 5 76029200 [A/G] NM_001992 F2R EXON Missense_S384G exm462262 5 76029285 [A/C] NM_001992 F2R EXON Missense_S412Y exm462270 5 76115069 [T/C] NM_005242 F2RL1 EXON Missense_S21F exm462274 5 76128521 [A/G] NM_005242 F2RL1 EXON Missense_S30N exm462279 5 76128586 [C/G] NM_005242 F2RL1 EXON Missense_G52R exm462283 5 76128739 [T/C] NM_005242 F2RL1 EXON Nonsense_R103X exm462285 5 76128909 [A/G] NM_005242 F2RL1 EXON Missense_M159I exm462300 5 76129180 [A/G] NM_005242 F2RL1 EXON Missense_V250I exm462303 5 76129241 [A/G] NM_005242 F2RL1 EXON Missense_R270Q exm462306 5 76129303 [A/G] NM_005242 F2RL1 EXON Missense_T291A exm462323 5 76171252 [A/C] NM_130772 S100Z EXON Missense_E23A exm462326 5 76171302 [T/C] NM_130772 S100Z EXON Nonsense_R40X exm462328 5 76171327 [T/C] NM_130772 S100Z Silent exm-IND5-76209380 5 76173625 [I/D] NM_130772 S100Z EXON exm2261971 5 76219181 [T/C] exm462339 5 76249497 [C/G] NM_001882 CRHBP EXON Missense_E51D exm462344 5 76249898 [A/G] NM_001882 CRHBP EXON Missense_A74T exm462346 5 76249908 [T/C] NM_001882 CRHBP EXON Missense_P77L exm462378 5 76326719 [T/G] NM_018046 AGGF1 EXON Missense_V43G exm462390 5 76331387 [A/G] NM_018046 AGGF1 EXON Missense_Y112C exm462391 5 76331419 [A/G] NM_018046 AGGF1 EXON Missense_E123K exm462394 5 76331449 [A/G] NM_018046 AGGF1 EXON Missense_E133K exm2104373 5 76331485 [A/G] NM_018046 AGGF1 EXON Missense_V145I exm462420 5 76342325 [A/G] NM_018046 AGGF1 EXON Missense_I342V exm462435 5 76349814 [A/G] NM_018046 AGGF1 EXON Missense_V498I exm462436 5 76349847 [A/G] NM_018046 AGGF1 EXON Missense_E509K exm462450 5 76355468 [T/G] NM_018046 AGGF1 EXON Missense_L582V exm462452 5 76355524 [T/A] NM_018046 AGGF1 EXON Missense_S600R exm462463 5 76358892 [T/C] NM_018046 AGGF1 EXON Missense_R654W exm2242731 5 76358956 [A/C] NM_018046 AGGF1 EXON Missense_Q675P exm462469 5 76359024 [A/C] NM_018046 AGGF1 EXON Missense_P698T exm462471 5 76359042 [A/G] NM_018046 AGGF1 EXON Missense_G704R exm462472 5 76359048 [T/A] NM_018046 AGGF1 EXON Missense_M706L exm2270075 5 76381287 [T/C] NM_032367 ZBED3 Silent exm462501 5 76607841 [A/G] NM_003719,NM_001029853,NM_001029854,NM_001029851,NM_001029852 PDE8B,PDE8B,PDE8B,PDE8B,PDE8B EXON Missense_R121H,Silent,Missense_R121H,Missense_R121H,Missense_R121H exm2242732 5 76633107 [A/C] NM_003719,NM_001029853,NM_001029854,NM_001029851,NM_001029852 PDE8B,PDE8B,PDE8B,PDE8B,PDE8B EXON Missense_E255A,Missense_E235A,Missense_E255A,Missense_E255A,Missense_E255A exm462544 5 76700592 [A/G] NM_003719,NM_001029853,NM_001029854,NM_001029851,NM_001029852 PDE8B,PDE8B,PDE8B,PDE8B,PDE8B EXON Missense_V420M,Missense_V400M,Missense_V373M,Missense_V323M,Missense_V420M exm462546 5 76700601 [A/G] NM_003719,NM_001029853,NM_001029854,NM_001029851,NM_001029852 PDE8B,PDE8B,PDE8B,PDE8B,PDE8B EXON Missense_I423V,Missense_I403V,Missense_I376V,Missense_I326V,Missense_I423V exm462549 5 76703226 [T/C] NM_003719,NM_001029853,NM_001029854,NM_001029851,NM_001029852 PDE8B,PDE8B,PDE8B,PDE8B,PDE8B EXON Missense_R437C,Missense_R417C,Missense_R390C,Missense_R340C,Missense_R437C exm2257344 5 76704849 [T/C] NM_003719,NM_001029853,NM_001029854,NM_001029851,NM_001029852 PDE8B,PDE8B,PDE8B,PDE8B,PDE8B EXON Synonymous_P499P,Synonymous_P479P,Synonymous_P452P,Synonymous_P402P,Silent exm462566 5 76708982 [T/C] NM_003719,NM_001029853,NM_001029854,NM_001029851,NM_001029852 PDE8B,PDE8B,PDE8B,PDE8B,PDE8B EXON Missense_C587R,Missense_C567R,Missense_C540R,Missense_C490R,Missense_C532R exm2104438 5 76715592 [A/G] NM_003719,NM_001029853,NM_001029854,NM_001029851,NM_001029852 PDE8B,PDE8B,PDE8B,PDE8B,PDE8B EXON Synonymous_R710R,Synonymous_R690R,Synonymous_R663R,Synonymous_R613R,Synonymous_R655R exm462580 5 76715606 [T/C] NM_003719,NM_001029853,NM_001029854,NM_001029851,NM_001029852 PDE8B,PDE8B,PDE8B,PDE8B,PDE8B EXON Missense_T715M,Missense_T695M,Missense_T668M,Missense_T618M,Missense_T660M exm462586 5 76717658 [A/G] NM_003719,NM_001029853,NM_001029854,NM_001029851,NM_001029852 PDE8B,PDE8B,PDE8B,PDE8B,PDE8B EXON Missense_D755N,Missense_D735N,Missense_D708N,Missense_D658N,Missense_D700N exm462601 5 76728974 [A/G] NM_018268 WDR41 EXON Missense_Y456H exm462602 5 76728995 [A/G] NM_018268 WDR41 EXON Synonymous_L449L exm2257345 5 76728995 [A/G] NM_018268 WDR41 EXON Synonymous_L449L exm462604 5 76729018 [T/C] NM_018268 WDR41 EXON Missense_R441H exm462605 5 76729019 [A/G] NM_018268 WDR41 EXON Missense_R441C exm462612 5 76732156 [T/C] NM_018268 WDR41 EXON Missense_Q386R exm462616 5 76732219 [A/C] NM_018268 WDR41 EXON Missense_G365V exm462621 5 76733214 [T/C] NM_018268 WDR41 EXON Missense_R347H exm462626 5 76734084 [T/C] NM_018268 WDR41 EXON Missense_V329I exm462628 5 76734102 [T/C] NM_018268 WDR41 EXON Missense_D323N exm462629 5 76734104 [T/C] NM_018268 WDR41 EXON Missense_H322R exm462630 5 76734108 [T/C] NM_018268 WDR41 EXON Missense_A321T exm2104459 5 76734131 [T/C] NM_018268 WDR41 EXON Missense_R313H exm462632 5 76734132 [A/G] NM_018268 WDR41 EXON Missense_R313C exm462639 5 76736741 [T/C] NM_018268 WDR41 EXON Missense_R260H exm2242735 5 76736742 [A/G] NM_018268 WDR41 EXON Missense_R260C exm462641 5 76736793 [T/C] NM_018268 WDR41 EXON Missense_G243R exm462657 5 76758933 [T/C] NM_018268 WDR41 EXON Missense_D112G exm462659 5 76759044 [A/T] NM_018268 WDR41 EXON Missense_E75V exm462661 5 76760612 [G/C] NM_018268 WDR41 EXON Missense_G64R exm462663 5 76760620 [T/C] NM_018268 WDR41 EXON Missense_G61D exm-rs163030 5 76781471 [A/C] NM_018268 WDR41 Silent exm462667 5 76785321 [T/C] NM_018268 WDR41 EXON Missense_H43R exm462668 5 76785348 [T/G] NM_018268 WDR41 EXON Missense_T34N exm462672 5 76785399 [T/C] NM_018268 WDR41 Silent exm462679 5 76788039 [A/G] NM_018268 WDR41 EXON Nonsense_R3X exm2265961 5 76890568 [A/G] exm462703 5 76932789 [T/G] NM_032109 OTP EXON Missense_Q102K exm462709 5 76932809 [A/G] NM_032109 OTP EXON Missense_A95V exm462731 5 76989099 [A/G] NM_004607 TBCA EXON Missense_R80W exm2266091 5 77125991 [A/G] exm462764 5 77311370 [T/C] NM_003664,NM_001271769 AP3B1,AP3B1 EXON Missense_V999M,Missense_V950M exm462768 5 77316593 [T/C] NM_003664,NM_001271769 AP3B1,AP3B1 EXON Missense_N972S,Missense_N923S exm462776 5 77335015 [T/G] NM_003664,NM_001271769 AP3B1,AP3B1 EXON Missense_F887L,Missense_F838L exm462779 5 77335091 [A/G] NM_003664,NM_001271769 AP3B1,AP3B1 EXON Missense_T862I,Missense_T813I exm2104541 5 77406083 [A/G] NM_003664,NM_001271769 AP3B1,AP3B1 EXON Missense_S782F,Missense_S733F exm462794 5 77406104 [T/A] NM_003664,NM_001271769 AP3B1,AP3B1 EXON Missense_I775K,Missense_I726K exm462797 5 77409637 [A/G] NM_003664,NM_001271769 AP3B1,AP3B1 EXON Missense_R730W,Missense_R681W exm462802 5 77411985 [T/C] NM_003664,NM_001271769 AP3B1,AP3B1 EXON Missense_E681G,Missense_E632G exm462813 5 77423981 [A/C] NM_003664,NM_001271769 AP3B1,AP3B1 EXON Missense_R614I,Missense_R565I exm462815 5 77424984 [A/C] NM_003664,NM_001271769 AP3B1,AP3B1 EXON Missense_A600S,Missense_A551S exm462819 5 77425034 [A/G] NM_003664,NM_001271769 AP3B1,AP3B1 EXON Missense_P583L,Missense_P534L exm462820 5 77425062 [T/C] NM_003664,NM_001271769 AP3B1,AP3B1 EXON Missense_T574A,Missense_T525A exm462837 5 77461466 [G/C] NM_003664,NM_001271769 AP3B1,AP3B1 EXON Missense_A400P,Missense_A351P exm462838 5 77461480 [T/C] NM_003664,NM_001271769 AP3B1,AP3B1 EXON Missense_N395S,Missense_N346S exm462844 5 77471634 [T/C] NM_003664,NM_001271769 AP3B1,AP3B1 EXON Missense_I357V,Missense_I308V exm2104576 5 77477331 [T/C] NM_003664,NM_001271769 AP3B1,AP3B1 EXON Synonymous_A314A,Synonymous_A265A exm462872 5 77563354 [T/C] NM_003664,NM_001271769 AP3B1,AP3B1 EXON Missense_R65Q,Missense_R16Q exm462875 5 77590366 [C/G] NM_003664,NM_001271769 AP3B1,AP3B1 EXON Missense_G13A,Silent exm2265962 5 77606215 [A/G] exm-rs6881634 5 77630854 [A/G] exm462885 5 77711356 [A/G] NM_004866 SCAMP1 EXON Missense_G50S exm-rs1159930 5 77768943 [T/C] NM_004866 SCAMP1 Silent exm2273407 5 77784433 [T/C] NM_005779 LHFPL2 EXON Silent exm2273408 5 77784438 [T/A] NM_005779 LHFPL2 EXON Silent exm462917 5 77784838 [A/C] NM_005779 LHFPL2 EXON Missense_G190V exm462918 5 77784845 [T/C] NM_005779 LHFPL2 EXON Missense_A188T exm462924 5 77784953 [A/T] NM_005779 LHFPL2 EXON Missense_I152L exm462928 5 77805724 [T/C] NM_005779 LHFPL2 EXON Missense_A105T exm2104622 5 77805733 [T/C] NM_005779 LHFPL2 EXON Missense_I102V exm2257349 5 77812808 [T/C] NM_005779 LHFPL2 Silent exm462943 5 78076276 [T/C] NM_000046 ARSB EXON Missense_A516T exm462949 5 78076372 [T/C] NM_000046 ARSB EXON Missense_R484G exm462954 5 78076449 [T/C] NM_000046 ARSB EXON Missense_N458S exm462966 5 78135214 [T/G] NM_000046,NM_198709 ARSB,ARSB EXON Missense_H393P,Missense_H393P exm462968 5 78135241 [T/C] NM_000046,NM_198709 ARSB,ARSB EXON Missense_S384N,Missense_S384N exm462970 5 78181423 [T/C] NM_000046,NM_198709 ARSB,ARSB EXON Missense_V376M,Missense_V376M exm462971 5 78181426 [T/C] NM_000046,NM_198709 ARSB,ARSB EXON Missense_D375N,Missense_D375N exm462975 5 78181477 [T/C] NM_000046,NM_198709 ARSB,ARSB EXON Missense_V358M,Missense_V358M exm462977 5 78181501 [T/C] NM_000046,NM_198709 ARSB,ARSB EXON Missense_I350V,Missense_I350V exm462985 5 78181635 [A/G] NM_000046,NM_198709 ARSB,ARSB EXON Missense_T305I,Missense_T305I exm2261974 5 78190471 [A/G] NM_000046,NM_198709 ARSB,ARSB Silent,Silent exm-rs337847 5 78259888 [A/G] NM_000046,NM_198709 ARSB,ARSB Silent,Silent exm462996 5 78260282 [A/G] NM_000046,NM_198709 ARSB,ARSB EXON Missense_T216I,Missense_T216I exm462997 5 78260300 [T/C] NM_000046,NM_198709 ARSB,ARSB EXON Missense_Y210C,Missense_Y210C exm463006 5 78264853 [A/G] NM_000046,NM_198709 ARSB,ARSB EXON Missense_R159C,Missense_R159C exm463009 5 78264922 [T/C] NM_000046,NM_198709 ARSB,ARSB EXON Missense_A136T,Missense_A136T exm463011 5 78265011 [T/C] NM_000046,NM_198709 ARSB,ARSB EXON Missense_R106H,Missense_R106H exm463019 5 78280902 [T/C] NM_000046,NM_198709 ARSB,ARSB EXON Nonsense_W57X,Nonsense_W57X exm463035 5 78294107 [A/G] NM_013391 DMGDH EXON Missense_T800M exm463038 5 78301172 [T/C] NM_013391 DMGDH EXON Missense_R770Q exm463040 5 78301220 [A/G] NM_013391 DMGDH EXON Missense_F754S exm2104676 5 78320148 [G/C] NM_013391 DMGDH EXON Missense_N732K exm463049 5 78322282 [A/G] NM_013391 DMGDH EXON Missense_R719C exm463057 5 78324352 [A/G] NM_013391 DMGDH EXON Missense_S646P exm463058 5 78324361 [T/C] NM_013391 DMGDH EXON Missense_K643E exm463059 5 78324375 [C/G] NM_013391 DMGDH EXON Missense_R638T exm463061 5 78324399 [A/G] NM_013391 DMGDH EXON Missense_L630P exm463074 5 78326663 [A/C] NM_013391 DMGDH EXON Missense_I559S exm463080 5 78326808 [A/G] NM_013391 DMGDH EXON Missense_R511C exm463081 5 78326810 [T/C] NM_013391 DMGDH EXON Missense_R510H exm463084 5 78328549 [A/G] NM_013391 DMGDH EXON Missense_P493L exm463102 5 78338202 [T/C] NM_013391 DMGDH EXON Missense_N366S exm463105 5 78338269 [G/C] NM_013391 DMGDH EXON Missense_R344G exm463107 5 78340141 [T/C] NM_013391 DMGDH EXON Missense_N327S exm463109 5 78340149 [T/C] NM_013391 DMGDH EXON Nonsense_W324X exm463113 5 78340220 [A/G] NM_013391 DMGDH EXON Nonsense_R301X exm463114 5 78340223 [A/G] NM_013391 DMGDH EXON Missense_L300F exm463115 5 78340228 [T/G] NM_013391 DMGDH EXON Missense_Y298S exm463117 5 78340265 [A/G] NM_013391 DMGDH EXON Nonsense_R286X exm463119 5 78340286 [A/G] NM_013391 DMGDH EXON Missense_S279P exm463125 5 78347161 [A/C] NM_013391 DMGDH EXON Missense_V232F exm463132 5 78350089 [T/C] NM_013391 DMGDH EXON Missense_R153Q exm463140 5 78351682 [T/C] NM_013391 DMGDH EXON Missense_H109R exm463141 5 78351683 [A/G] NM_013391 DMGDH EXON Missense_H109Y exm463152 5 78373308 [T/G] NM_017614,NM_001178005 BHMT2,BHMT2 EXON Missense_I13M,Missense_I13M exm463165 5 78375222 [T/C] NM_017614,NM_001178005 BHMT2,BHMT2 EXON Missense_A66V,Missense_A66V exm2242744 5 78378746 [T/C] NM_017614,NM_001178005 BHMT2,BHMT2 EXON Missense_P189S,Missense_P125S exm463178 5 78378780 [A/G] NM_017614,NM_001178005 BHMT2,BHMT2 Silent,Silent exm463181 5 78379026 [A/G] NM_017614,NM_001178005 BHMT2,BHMT2 EXON Missense_V204I,Missense_V140I exm463185 5 78379069 [T/C] NM_017614,NM_001178005 BHMT2,BHMT2 EXON Missense_T218M,Missense_T154M exm463191 5 78379449 [A/G] NM_017614,NM_001178005 BHMT2,BHMT2 Silent,Silent exm2104735 5 78379457 [A/G] NM_017614,NM_001178005 BHMT2,BHMT2 EXON Missense_E263G,Missense_E199G exm463199 5 78384363 [A/C] NM_017614,NM_001178005 BHMT2,BHMT2 EXON Missense_P353H,Missense_P289H exm463203 5 78411602 [T/C] NM_001713 BHMT EXON Missense_R16C exm463218 5 78417087 [T/C] NM_001713 BHMT EXON Missense_I175T exm463221 5 78417152 [T/C] NM_001713 BHMT EXON Missense_P197S exm463222 5 78417158 [A/G] NM_001713 BHMT EXON Missense_G199S exm463227 5 78421894 [A/C] NM_001713 BHMT EXON Nonsense_C217X exm463228 5 78421959 [A/G] NM_001713 BHMT EXON Missense_R239Q exm463246 5 78426877 [A/G] NM_001713 BHMT EXON Missense_E387K exm2265963 5 78477017 [A/G] exm463273 5 78533410 [A/G] NM_152405 JMY EXON Missense_T313A exm463278 5 78573778 [A/G] NM_152405 JMY EXON Missense_D360N exm463279 5 78573790 [T/A] NM_152405 JMY EXON Missense_M364L exm2104784 5 78587100 [A/G] NM_152405 JMY EXON Missense_R502Q exm463294 5 78595988 [T/C] NM_152405 JMY EXON Missense_R514W exm2242748 5 78596561 [G/C] NM_152405 JMY EXON Missense_E586Q exm463306 5 78596580 [T/C] NM_152405 JMY EXON Missense_A592V exm463308 5 78602230 [C/G] NM_152405 JMY EXON Missense_I638M exm463316 5 78610174 [A/G] NM_152405 JMY EXON Missense_H720R exm463321 5 78610333 [T/C] NM_152405 JMY EXON Missense_L773P exm463330 5 78610473 [A/C] NM_152405 JMY EXON Missense_P820T exm463333 5 78610486 [T/C] NM_152405 JMY EXON Missense_P824L exm463343 5 78612017 [A/G] NM_152405 JMY EXON Missense_D952N exm2266093 5 78670802 [A/G] NM_004272 HOMER1 EXON Silent exm463360 5 78734935 [A/G] NM_004272 HOMER1 EXON Missense_P142L exm463364 5 78746817 [A/G] NM_004272 HOMER1 EXON Missense_S97L exm-rs10078095 5 78756778 [T/C] NM_004272 HOMER1 Silent exm-rs7713917 5 78829249 [A/G] exm-rs13358260 5 78845711 [T/C] exm2265964 5 78889624 [A/G] exm463382 5 78915852 [A/G] NM_001114394,NM_173797,NM_001114393 PAPD4,PAPD4,PAPD4 EXON Missense_Y58C,Missense_Y58C,Missense_Y58C exm463385 5 78919104 [T/G] NM_001114394,NM_173797,NM_001114393 PAPD4,PAPD4,PAPD4 EXON Missense_L86R,Missense_L86R,Missense_L86R exm463387 5 78919121 [T/C] NM_001114394,NM_173797,NM_001114393 PAPD4,PAPD4,PAPD4 EXON Missense_R92C,Missense_R92C,Missense_R92C exm463389 5 78919134 [T/C] NM_001114394,NM_173797,NM_001114393 PAPD4,PAPD4,PAPD4 EXON Missense_P96L,Missense_P96L,Missense_P96L exm463409 5 78938689 [A/G] NM_001114394,NM_173797,NM_001114393 PAPD4,PAPD4,PAPD4 EXON Missense_R236Q,Missense_R236Q,Missense_R236Q exm463422 5 78944996 [T/C] NM_001114394,NM_173797,NM_001114393 PAPD4,PAPD4,PAPD4 EXON Missense_V337A,Missense_V337A,Missense_V337A exm463428 5 78952822 [A/C] NM_001114394,NM_173797,NM_001114393 PAPD4,PAPD4,PAPD4 EXON Missense_P357T,Missense_P357T,Missense_P357T exm463444 5 78981028 [T/C] NM_001114394,NM_173797,NM_001114393 PAPD4,PAPD4,PAPD4 EXON Missense_H463Y,Missense_H463Y,Missense_H463Y exm463445 5 78981043 [A/C] NM_001114394,NM_173797,NM_001114393 PAPD4,PAPD4,PAPD4 EXON Missense_K468Q,Missense_K468Q,Missense_K468Q exm-rs6870619 5 78996050 [A/G] NM_153610 CMYA5 Silent exm463453 5 79024747 [A/C] NM_153610 CMYA5 EXON Missense_D53E exm463454 5 79024779 [A/G] NM_153610 CMYA5 EXON Missense_Y64C exm463455 5 79024833 [A/G] NM_153610 CMYA5 EXON Missense_G82E exm463456 5 79024866 [C/G] NM_153610 CMYA5 EXON Missense_S93C exm463458 5 79024901 [C/G] NM_153610 CMYA5 EXON Missense_G105R exm463460 5 79024914 [A/G] NM_153610 CMYA5 EXON Missense_R109Q exm463462 5 79024916 [A/G] NM_153610 CMYA5 EXON Missense_E110K exm463467 5 79024949 [C/G] NM_153610 CMYA5 EXON Missense_V121L exm463475 5 79025028 [A/G] NM_153610 CMYA5 EXON Missense_R147Q exm2104920 5 79025055 [T/C] NM_153610 CMYA5 EXON Missense_F156S exm463477 5 79025085 [A/G] NM_153610 CMYA5 EXON Missense_K166R exm463478 5 79025113 [T/G] NM_153610 CMYA5 EXON Missense_Q175H exm463480 5 79025157 [A/G] NM_153610 CMYA5 EXON Missense_D190G exm463482 5 79025224 [A/C] NM_153610 CMYA5 EXON Missense_H212Q exm463489 5 79025441 [T/C] NM_153610 CMYA5 EXON Missense_R285C exm463494 5 79025592 [T/C] NM_153610 CMYA5 EXON Missense_T335I exm463497 5 79025634 [A/G] NM_153610 CMYA5 EXON Missense_G349D exm463499 5 79025678 [T/C] NM_153610 CMYA5 EXON Missense_P364S exm463504 5 79025828 [A/G] NM_153610 CMYA5 EXON Missense_V414I exm463505 5 79025937 [A/G] NM_153610 CMYA5 EXON Missense_G450D exm463508 5 79025976 [T/C] NM_153610 CMYA5 EXON Missense_I463T exm463511 5 79025999 [A/G] NM_153610 CMYA5 EXON Missense_A471T exm463513 5 79026071 [G/C] NM_153610 CMYA5 EXON Missense_L495V exm463520 5 79026339 [A/C] NM_153610 CMYA5 EXON Missense_E584A exm463522 5 79026370 [T/G] NM_153610 CMYA5 EXON Missense_F594L exm463527 5 79026434 [A/G] NM_153610 CMYA5 EXON Missense_V616I exm463529 5 79026539 [A/C] NM_153610 CMYA5 EXON Missense_S651R exm463531 5 79026649 [T/G] NM_153610 CMYA5 EXON Missense_S687R exm2104937 5 79026866 [A/G] NM_153610 CMYA5 EXON Missense_E760K exm463545 5 79026947 [A/G] NM_153610 CMYA5 EXON Missense_G787R exm463546 5 79026956 [T/C] NM_153610 CMYA5 EXON Missense_R790C exm463563 5 79027379 [T/C] NM_153610 CMYA5 EXON Missense_P931S exm463564 5 79027405 [A/C] NM_153610 CMYA5 EXON Missense_Q939H exm463565 5 79027464 [T/C] NM_153610 CMYA5 EXON Missense_P959L exm463566 5 79027469 [A/G] NM_153610 CMYA5 EXON Missense_A961T exm463567 5 79027470 [T/C] NM_153610 CMYA5 EXON Missense_A961V exm463568 5 79027494 [T/A] NM_153610 CMYA5 EXON Missense_E969V exm463571 5 79027605 [T/C] NM_153610 CMYA5 EXON Missense_V1006A exm463574 5 79027700 [T/C] NM_153610 CMYA5 EXON Missense_F1038L exm463575 5 79027734 [T/C] NM_153610 CMYA5 EXON Missense_T1049I exm2104943 5 79027830 [T/C] NM_153610 CMYA5 EXON Missense_P1081L exm463590 5 79028025 [T/C] NM_153610 CMYA5 EXON Missense_V1146A exm463598 5 79028295 [G/C] NM_153610 CMYA5 EXON Missense_S1236C exm463600 5 79028325 [T/C] NM_153610 CMYA5 EXON Missense_M1246T exm463601 5 79028327 [A/G] NM_153610 CMYA5 EXON Missense_V1247I exm463603 5 79028355 [T/C] NM_153610 CMYA5 EXON Missense_P1256L exm463609 5 79028472 [T/C] NM_153610 CMYA5 EXON Missense_A1295V exm463611 5 79028513 [A/G] NM_153610 CMYA5 EXON Missense_I1309V exm463612 5 79028586 [T/C] NM_153610 CMYA5 EXON Missense_A1333V exm463616 5 79028726 [A/G] NM_153610 CMYA5 EXON Missense_I1380V exm463617 5 79028742 [A/G] NM_153610 CMYA5 EXON Missense_R1385H exm463619 5 79028777 [A/G] NM_153610 CMYA5 EXON Missense_G1397R exm463621 5 79028819 [T/G] NM_153610 CMYA5 EXON Missense_S1411A exm463625 5 79029000 [A/G] NM_153610 CMYA5 EXON Missense_G1471E exm463626 5 79029013 [G/C] NM_153610 CMYA5 EXON Missense_I1475M exm463632 5 79029251 [A/G] NM_153610 CMYA5 EXON Missense_K1555E exm463633 5 79029288 [A/C] NM_153610 CMYA5 EXON Missense_A1567E exm463634 5 79029311 [T/A] NM_153610 CMYA5 EXON Missense_N1575Y exm463636 5 79029356 [A/G] NM_153610 CMYA5 EXON Missense_D1590N exm463637 5 79029369 [T/C] NM_153610 CMYA5 EXON Missense_P1594L exm463639 5 79029383 [T/G] NM_153610 CMYA5 EXON Missense_S1599A exm463641 5 79029466 [A/C] NM_153610 CMYA5 EXON Missense_D1626E exm2242763 5 79029480 [T/C] NM_153610 CMYA5 EXON Missense_P1631L exm463644 5 79029531 [A/G] NM_153610 CMYA5 EXON Missense_Q1648R exm463647 5 79029594 [T/C] NM_153610 CMYA5 EXON Missense_L1669S exm463649 5 79029675 [G/C] NM_153610 CMYA5 EXON Missense_A1696G exm463651 5 79029726 [T/A] NM_153610 CMYA5 EXON Missense_I1713N exm463653 5 79029732 [T/C] NM_153610 CMYA5 EXON Missense_P1715L exm463655 5 79029749 [A/G] NM_153610 CMYA5 EXON Missense_I1721V exm463657 5 79029762 [T/C] NM_153610 CMYA5 EXON Missense_S1725L exm463663 5 79029953 [A/G] NM_153610 CMYA5 EXON Missense_K1789E exm463664 5 79030000 [G/C] NM_153610 CMYA5 EXON Missense_Q1804H exm2257353 5 79030045 [A/G] NM_153610 CMYA5 EXON Synonymous_V1819V exm463675 5 79030212 [T/C] NM_153610 CMYA5 EXON Missense_A1875V exm2257354 5 79030258 [A/G] NM_153610 CMYA5 EXON Synonymous_K1890K exm463678 5 79030326 [A/C] NM_153610 CMYA5 EXON Missense_S1913Y exm463679 5 79030338 [A/G] NM_153610 CMYA5 EXON Missense_D1917G exm463680 5 79030346 [A/G] NM_153610 CMYA5 EXON Missense_S1920G exm463683 5 79030468 [A/C] NM_153610 CMYA5 EXON Missense_E1960D exm463684 5 79030470 [T/C] NM_153610 CMYA5 EXON Missense_A1961V exm463687 5 79030623 [T/C] NM_153610 CMYA5 EXON Missense_S2012F exm463688 5 79030638 [A/G] NM_153610 CMYA5 EXON Missense_E2017G exm2104962 5 79030797 [A/C] NM_153610 CMYA5 EXON Missense_K2070T exm463697 5 79030812 [T/C] NM_153610 CMYA5 EXON Missense_P2075L exm463699 5 79030926 [T/C] NM_153610 CMYA5 EXON Missense_I2113T exm463701 5 79030983 [A/G] NM_153610 CMYA5 EXON Missense_R2132K exm463704 5 79031022 [T/C] NM_153610 CMYA5 EXON Missense_S2145F exm463705 5 79031066 [A/G] NM_153610 CMYA5 EXON Missense_K2160E exm463713 5 79031268 [T/C] NM_153610 CMYA5 EXON Missense_F2227S exm463723 5 79031546 [T/C] NM_153610 CMYA5 EXON Missense_Y2320H exm463724 5 79031558 [A/G] NM_153610 CMYA5 EXON Missense_G2324S exm463725 5 79031571 [T/C] NM_153610 CMYA5 EXON Missense_V2328A exm463726 5 79031579 [A/G] NM_153610 CMYA5 EXON Missense_E2331K exm463729 5 79031695 [A/T] NM_153610 CMYA5 EXON Missense_D2369E exm463731 5 79031711 [T/C] NM_153610 CMYA5 EXON Missense_L2375F exm463733 5 79031732 [T/G] NM_153610 CMYA5 EXON Missense_D2382Y exm463734 5 79031735 [A/G] NM_153610 CMYA5 EXON Missense_K2383E exm463738 5 79031873 [T/C] NM_153610 CMYA5 EXON Missense_L2429F exm463741 5 79032026 [A/G] NM_153610 CMYA5 EXON Missense_V2480M exm463743 5 79032067 [T/G] NM_153610 CMYA5 EXON Missense_K2493N exm463753 5 79032372 [T/C] NM_153610 CMYA5 EXON Missense_T2595I exm463754 5 79032390 [T/C] NM_153610 CMYA5 EXON Missense_M2601T exm463759 5 79032515 [T/C] NM_153610 CMYA5 EXON Missense_R2643C exm463769 5 79032641 [T/G] NM_153610 CMYA5 EXON Missense_G2685C exm463771 5 79032666 [T/C] NM_153610 CMYA5 EXON Missense_T2693I exm463773 5 79032698 [A/G] NM_153610 CMYA5 EXON Missense_G2704R exm463774 5 79032711 [A/G] NM_153610 CMYA5 EXON Missense_R2708H exm463781 5 79032932 [A/T] NM_153610 CMYA5 EXON Missense_M2782L exm463783 5 79032962 [A/G] NM_153610 CMYA5 EXON Missense_E2792K exm463784 5 79032977 [C/G] NM_153610 CMYA5 EXON Missense_R2797G exm463785 5 79032978 [A/G] NM_153610 CMYA5 EXON Missense_R2797H exm463791 5 79033074 [A/G] NM_153610 CMYA5 EXON Missense_N2829S exm2104975 5 79033215 [T/C] NM_153610 CMYA5 EXON Missense_A2876V exm463797 5 79033306 [A/C] NM_153610 CMYA5 EXON Missense_K2906N exm463798 5 79033391 [A/G] NM_153610 CMYA5 EXON Missense_G2935R exm463801 5 79033460 [T/G] NM_153610 CMYA5 EXON Missense_A2958S exm2257355 5 79033465 [A/G] NM_153610 CMYA5 EXON Synonymous_P2959P exm463803 5 79033529 [A/G] NM_153610 CMYA5 EXON Missense_E2981K exm463805 5 79033667 [A/G] NM_153610 CMYA5 EXON Missense_T3027A exm463816 5 79034027 [T/G] NM_153610 CMYA5 EXON Missense_D3147Y exm2242767 5 79034205 [A/T] NM_153610 CMYA5 EXON Missense_K3206M exm2242768 5 79034210 [C/G] NM_153610 CMYA5 EXON Missense_E3208Q exm463826 5 79034334 [A/G] NM_153610 CMYA5 EXON Missense_H3249R exm463833 5 79034537 [A/G] NM_153610 CMYA5 EXON Missense_V3317I exm2257356 5 79034572 [T/C] NM_153610 CMYA5 EXON Synonymous_D3328D exm463837 5 79034640 [A/G] NM_153610 CMYA5 EXON Missense_R3351H exm463839 5 79034658 [G/C] NM_153610 CMYA5 EXON Missense_S3357T exm463840 5 79034662 [C/G] NM_153610 CMYA5 EXON Missense_H3358Q exm2275801 5 79034681 [C/G] NM_153610 CMYA5 EXON Missense_A3365P exm463843 5 79034696 [A/G] NM_153610 CMYA5 EXON Missense_N3370D exm463845 5 79034727 [T/C] NM_153610 CMYA5 EXON Missense_P3380L exm2104984 5 79034825 [T/C] NM_153610 CMYA5 EXON Missense_R3413C exm463855 5 79035095 [C/G] NM_153610 CMYA5 EXON Missense_E3503Q exm463857 5 79035144 [A/C] NM_153610 CMYA5 EXON Missense_P3519Q exm463861 5 79039740 [A/G] NM_153610 CMYA5 EXON Missense_I3577V exm463862 5 79041057 [A/G] NM_153610 CMYA5 EXON Missense_K3583E exm463865 5 79041099 [T/A] NM_153610 CMYA5 EXON Nonsense_K3597X exm463870 5 79041252 [A/G] NM_153610 CMYA5 EXON Missense_E3648K exm463879 5 79054599 [T/C] NM_153610 CMYA5 EXON Missense_P3712S exm2105003 5 79058930 [A/G] NM_153610 CMYA5 EXON Nonsense_W3818X exm463884 5 79058954 [A/G] NM_153610 CMYA5 EXON Missense_R3826Q exm463891 5 79084844 [A/G] NM_153610 CMYA5 EXON Missense_N3869S exm463893 5 79084868 [A/G] NM_153610 CMYA5 EXON Missense_R3877K exm463897 5 79086852 [C/G] NM_153610 CMYA5 EXON Missense_G3917R exm463902 5 79086883 [A/G] NM_153610 CMYA5 EXON Missense_R3927Q exm463903 5 79089292 [T/C] NM_153610 CMYA5 EXON Missense_S3941F exm463913 5 79095243 [A/G] NM_153610 CMYA5 EXON Missense_R4005H exm463915 5 79095299 [A/G] NM_153610 CMYA5 EXON Missense_N4024D exm463919 5 79095417 [T/C] NM_153610 CMYA5 EXON Missense_P4063L exm463928 5 79279578 [A/G] NM_001167741,NM_001010891 MTX3,MTX3 EXON Missense_R229W,Silent exm463933 5 79281467 [T/C] NM_001167741,NM_001010891 MTX3,MTX3 EXON Missense_G191E,Silent exm463935 5 79282798 [C/G] NM_001167741,NM_001010891 MTX3,MTX3 EXON Missense_S177R,Missense_S238R exm463943 5 79284099 [T/C] NM_001167741,NM_001010891 MTX3,MTX3 EXON Missense_N121D,Missense_N182D exm463951 5 79285063 [T/C] NM_001167741,NM_001010891 MTX3,MTX3 EXON Missense_Y17C,Missense_Y78C exm463952 5 79285067 [T/C] NM_001167741,NM_001010891 MTX3,MTX3 EXON Missense_K16E,Missense_K77E exm463956 5 79286419 [T/C] NM_001167741,NM_001010891 MTX3,MTX3 EXON Silent,Missense_R50K exm463968 5 79335944 [A/G] NM_003248 THBS4 EXON Missense_A45T exm463975 5 79336091 [T/C] NM_003248 THBS4 EXON Missense_R94C exm2242772 5 79351794 [T/C] NM_003248 THBS4 EXON Missense_F160S exm463988 5 79354110 [T/A] NM_003248 THBS4 EXON Missense_S208C exm463993 5 79354560 [A/G] NM_003248 THBS4 EXON Missense_M227V exm464001 5 79355559 [T/C] NM_003248 THBS4 EXON Missense_T273M exm464003 5 79355586 [T/C] NM_003248 THBS4 EXON Missense_P282L exm464008 5 79355631 [A/G] NM_003248 THBS4 EXON Missense_R297Q exm464009 5 79355634 [A/G] NM_003248 THBS4 EXON Missense_G298D exm464013 5 79355702 [A/G] NM_003248 THBS4 EXON Missense_G321R exm464018 5 79361257 [A/G] NM_003248 THBS4 EXON Missense_R384Q exm464019 5 79361265 [C/G] NM_003248 THBS4 EXON Missense_A387P exm2257360 5 79361282 [A/G] NM_003248 THBS4 EXON Synonymous_S392S exm464025 5 79363860 [T/C] NM_003248 THBS4 EXON Missense_A420V exm464035 5 79366195 [A/G] NM_003248 THBS4 EXON Missense_D472N exm464040 5 79366466 [T/G] NM_003248 THBS4 EXON Missense_D485Y exm464049 5 79366571 [T/C] NM_003248 THBS4 EXON Nonsense_Q520X exm464050 5 79366874 [G/C] NM_003248 THBS4 EXON Missense_Q531E exm464053 5 79366969 [A/T] NM_003248 THBS4 EXON Missense_R562S exm464057 5 79368122 [A/G] NM_003248 THBS4 EXON Missense_N581S exm2105068 5 79368143 [A/G] NM_003248 THBS4 EXON Missense_R588H exm464068 5 79372721 [A/G] NM_003248 THBS4 EXON Missense_V646I exm464076 5 79373874 [A/G] NM_003248 THBS4 EXON Missense_D697N exm464078 5 79373890 [T/C] NM_003248 THBS4 EXON Missense_I702T exm2105077 5 79373931 [A/G] NM_003248 THBS4 EXON Missense_I716V exm464080 5 79373994 [A/G] NM_003248 THBS4 EXON Missense_V737I exm464085 5 79374747 [A/G] NM_003248 THBS4 EXON Missense_M757V exm464088 5 79375038 [T/C] NM_003248 THBS4 EXON Missense_A823V exm2105083 5 79375779 [A/C] NM_003248 THBS4 EXON Missense_H855N exm464093 5 79378233 [T/C] NM_003248 THBS4 EXON Nonsense_R897X exm464100 5 79378947 [A/G] NM_003248 THBS4 EXON Missense_D957N exm464124 5 79465166 [A/G] NM_178276,NM_001174071,NM_001174072 SERINC5,SERINC5,SERINC5 EXON Missense_V252A,Missense_V252A,Missense_V252A exm464141 5 79473173 [T/C] NM_178276,NM_001174071,NM_001174072 SERINC5,SERINC5,SERINC5 EXON Missense_A141T,Missense_A141T,Missense_A141T exm464142 5 79473187 [A/G] NM_178276,NM_001174071,NM_001174072 SERINC5,SERINC5,SERINC5 EXON Missense_A136V,Missense_A136V,Missense_A136V exm2265965 5 79521704 [A/G] NM_178276,NM_001174071,NM_001174072 SERINC5,SERINC5,SERINC5 Silent,Silent,Silent exm464158 5 79616083 [G/C] NM_032567 SPZ1 EXON Missense_V17L exm2105123 5 79616117 [T/C] NM_032567 SPZ1 EXON Missense_L28P exm464164 5 79616278 [A/G] NM_032567 SPZ1 EXON Missense_N82D exm464171 5 79616461 [G/C] NM_032567 SPZ1 EXON Missense_E143Q exm464176 5 79616573 [A/C] NM_032567 SPZ1 EXON Missense_A180D exm464178 5 79616641 [A/G] NM_032567 SPZ1 EXON Missense_A203T exm464179 5 79616698 [A/G] NM_032567 SPZ1 EXON Missense_E222K exm464180 5 79616711 [T/G] NM_032567 SPZ1 EXON Missense_S226I exm464191 5 79616936 [A/C] NM_032567 SPZ1 EXON Missense_H301P exm464192 5 79616938 [A/G] NM_032567 SPZ1 EXON Missense_E302K exm464193 5 79617023 [T/C] NM_032567 SPZ1 EXON Missense_I330T exm-IND5-79652806 5 79617051 [D/I] NM_032567 SPZ1 EXON exm464205 5 79732631 [A/G] NM_014733,NM_001105251 ZFYVE16,ZFYVE16 EXON Missense_V43I,Missense_V43I exm464208 5 79732668 [T/C] NM_014733,NM_001105251 ZFYVE16,ZFYVE16 EXON Missense_L55S,Missense_L55S exm464210 5 79732691 [A/G] NM_014733,NM_001105251 ZFYVE16,ZFYVE16 EXON Missense_V63I,Missense_V63I exm464211 5 79732701 [T/G] NM_014733,NM_001105251 ZFYVE16,ZFYVE16 EXON Missense_C66F,Missense_C66F exm464224 5 79732908 [A/G] NM_014733,NM_001105251 ZFYVE16,ZFYVE16 EXON Missense_N135S,Missense_N135S exm464225 5 79732913 [C/G] NM_014733,NM_001105251 ZFYVE16,ZFYVE16 EXON Missense_V137L,Missense_V137L exm464231 5 79733079 [T/C] NM_014733,NM_001105251 ZFYVE16,ZFYVE16 EXON Missense_I192T,Missense_I192T exm464237 5 79733155 [T/G] NM_014733,NM_001105251 ZFYVE16,ZFYVE16 EXON Missense_D217E,Missense_D217E exm464241 5 79733253 [A/G] NM_014733,NM_001105251 ZFYVE16,ZFYVE16 EXON Missense_R250Q,Missense_R250Q exm464242 5 79733277 [A/C] NM_014733,NM_001105251 ZFYVE16,ZFYVE16 EXON Missense_A258D,Missense_A258D exm464255 5 79733685 [A/G] NM_014733,NM_001105251 ZFYVE16,ZFYVE16 EXON Missense_R394Q,Missense_R394Q exm464266 5 79733934 [T/C] NM_014733,NM_001105251 ZFYVE16,ZFYVE16 EXON Missense_V477A,Missense_V477A exm2105165 5 79734201 [T/C] NM_014733,NM_001105251 ZFYVE16,ZFYVE16 EXON Missense_M566T,Missense_M566T exm2105166 5 79734206 [A/G] NM_014733,NM_001105251 ZFYVE16,ZFYVE16 EXON Missense_G568S,Missense_G568S exm464281 5 79734297 [T/C] NM_014733,NM_001105251 ZFYVE16,ZFYVE16 EXON Missense_I598T,Missense_I598T exm464283 5 79734395 [A/G] NM_014733,NM_001105251 ZFYVE16,ZFYVE16 EXON Missense_T631A,Missense_T631A exm464287 5 79734491 [A/G] NM_014733,NM_001105251 ZFYVE16,ZFYVE16 EXON Missense_K663E,Missense_K663E exm464290 5 79734563 [A/G] NM_014733,NM_001105251 ZFYVE16,ZFYVE16 EXON Missense_I687V,Missense_I687V exm464297 5 79734726 [A/G] NM_014733,NM_001105251 ZFYVE16,ZFYVE16 EXON Missense_Q741R,Missense_Q741R exm2266094 5 79735858 [A/G] NM_014733,NM_001105251 ZFYVE16,ZFYVE16 Silent,Silent exm464307 5 79739007 [T/G] NM_014733,NM_001105251 ZFYVE16,ZFYVE16 EXON Missense_C829G,Missense_C829G exm464309 5 79739017 [T/C] NM_014733,NM_001105251 ZFYVE16,ZFYVE16 EXON Missense_V832A,Missense_V832A exm2105183 5 79741133 [T/C] NM_014733,NM_001105251 ZFYVE16,ZFYVE16 EXON Missense_P878L,Missense_P878L exm464319 5 79741168 [T/C] NM_014733,NM_001105251 ZFYVE16,ZFYVE16 EXON Missense_S890P,Missense_S890P exm2105184 5 79741222 [A/G] NM_014733,NM_001105251 ZFYVE16,ZFYVE16 EXON Missense_M908V,Missense_M908V exm464328 5 79744061 [T/C] NM_014733,NM_001105251 ZFYVE16,ZFYVE16 EXON Missense_P981S,Missense_P981S exm464333 5 79744160 [T/C] NM_014733,NM_001105251 ZFYVE16,ZFYVE16 EXON Missense_L1014F,Missense_L1014F exm2242779 5 79745430 [T/C] NM_014733,NM_001105251 ZFYVE16,ZFYVE16 EXON Missense_P1042S,Missense_P1042S exm464335 5 79745469 [A/G] NM_014733,NM_001105251 ZFYVE16,ZFYVE16 EXON Missense_S1055G,Missense_S1055G exm2105194 5 79746349 [T/C] NM_014733,NM_001105251 ZFYVE16,ZFYVE16 EXON Missense_T1109I,Missense_T1109I exm464345 5 79747384 [A/G] NM_014733,NM_001105251 ZFYVE16,ZFYVE16 EXON Missense_I1155V,Missense_I1155V exm464353 5 79752822 [G/C] NM_014733,NM_001105251 ZFYVE16,ZFYVE16 EXON Missense_S1285T,Missense_S1285T exm464355 5 79752879 [A/G] NM_014733,NM_001105251 ZFYVE16,ZFYVE16 EXON Missense_Q1304R,Missense_Q1304R exm464357 5 79755260 [A/G] NM_014733,NM_001105251 ZFYVE16,ZFYVE16 EXON Missense_N1324S,Missense_N1324S exm2105200 5 79768604 [G/C] NM_014733,NM_001105251 ZFYVE16,ZFYVE16 EXON Missense_P1350R,Missense_P1350R exm464361 5 79768610 [T/C] NM_014733,NM_001105251 ZFYVE16,ZFYVE16 EXON Missense_T1352I,Missense_T1352I exm464362 5 79768624 [T/C] NM_014733,NM_001105251 ZFYVE16,ZFYVE16 EXON Missense_R1357W,Missense_R1357W exm464372 5 79769662 [T/C] NM_014733,NM_001105251 ZFYVE16,ZFYVE16 EXON Missense_I1426T,Missense_I1426T exm464377 5 79770627 [A/G] NM_014733,NM_001105251 ZFYVE16,ZFYVE16 EXON Missense_R1480K,Missense_R1480K exm464379 5 79773051 [T/C] NM_014733,NM_001105251 ZFYVE16,ZFYVE16 EXON Missense_A1492V,Missense_A1492V exm464383 5 79773128 [A/G] NM_014733,NM_001105251 ZFYVE16,ZFYVE16 EXON Missense_G1518R,Missense_G1518R exm464384 5 79773132 [A/C] NM_014733,NM_001105251 ZFYVE16,ZFYVE16 EXON Missense_T1519N,Missense_T1519N exm464398 5 79797690 [A/G] NM_205548 FAM151B EXON Nonsense_W35X exm464402 5 79809468 [A/G] NM_205548 FAM151B EXON Missense_G66E exm464405 5 79809524 [A/G] NM_205548 FAM151B EXON Missense_T85A exm464406 5 79809558 [T/G] NM_205548 FAM151B EXON Missense_S96I exm464409 5 79809566 [T/G] NM_205548 FAM151B EXON Missense_G99C exm2242781 5 79815529 [A/C] NM_205548 FAM151B EXON Missense_P112Q exm464415 5 79815571 [A/G] NM_205548 FAM151B EXON Missense_R126H exm464418 5 79815606 [A/C] NM_205548 FAM151B EXON Missense_P138T exm464423 5 79815658 [T/C] NM_205548 FAM151B EXON Missense_I155T exm464436 5 79837611 [A/G] NM_205548 FAM151B EXON Missense_H264R exm464442 5 79854441 [T/G] NM_001004441 ANKRD34B EXON Missense_N466K exm464446 5 79854586 [T/G] NM_001004441 ANKRD34B EXON Missense_P418H exm464448 5 79854617 [T/C] NM_001004441 ANKRD34B EXON Missense_K408E exm464449 5 79854634 [A/G] NM_001004441 ANKRD34B EXON Missense_S402F exm464451 5 79854667 [A/G] NM_001004441 ANKRD34B EXON Missense_I391T exm464456 5 79854793 [A/G] NM_001004441 ANKRD34B EXON Missense_T349I exm464457 5 79854804 [A/C] NM_001004441 ANKRD34B EXON Missense_D345E exm464458 5 79854826 [A/G] NM_001004441 ANKRD34B EXON Missense_V338A exm464459 5 79854857 [G/C] NM_001004441 ANKRD34B EXON Missense_L328V exm464461 5 79854935 [T/C] NM_001004441 ANKRD34B EXON Missense_T302A exm464464 5 79854994 [T/C] NM_001004441 ANKRD34B EXON Missense_N282S exm464469 5 79855114 [A/G] NM_001004441 ANKRD34B EXON Missense_L242P exm464473 5 79855228 [A/G] NM_001004441 ANKRD34B EXON Missense_T204M exm464477 5 79855283 [G/C] NM_001004441 ANKRD34B EXON Missense_P186A exm464480 5 79855372 [A/G] NM_001004441 ANKRD34B EXON Missense_L156S exm464481 5 79855394 [T/C] NM_001004441 ANKRD34B EXON Missense_I149V exm464484 5 79855535 [A/C] NM_001004441 ANKRD34B EXON Missense_S102A exm464491 5 79855641 [T/C] NM_001004441 ANKRD34B EXON Missense_M66I exm464492 5 79855674 [T/A] NM_001004441 ANKRD34B EXON Missense_H55Q exm464499 5 79855769 [A/G] NM_001004441 ANKRD34B EXON Missense_R24C exm464559 5 79950781 [A/G] NM_000791,NM_002439 DHFR,MSH3 EXON Silent,Missense_I79V exm464563 5 79952308 [G/C] NM_002439 MSH3 EXON Missense_Q106E exm2105241 5 79952348 [T/C] NM_002439 MSH3 EXON Missense_S119F exm464573 5 79961165 [T/C] NM_002439 MSH3 EXON Missense_R188C exm464576 5 79966028 [T/C] NM_002439 MSH3 EXON Missense_P231L exm464597 5 79970934 [A/T] NM_002439 MSH3 EXON Missense_F387Y exm464604 5 79974821 [T/C] NM_002439 MSH3 EXON Missense_R417W exm464606 5 79974885 [T/C] NM_002439 MSH3 EXON Missense_A438V exm2265966 5 79996632 [A/G] NM_002439 MSH3 Silent exm464610 5 80021325 [A/G] NM_002439 MSH3 EXON Missense_Y465C exm464613 5 80024685 [A/C] NM_002439 MSH3 EXON Missense_S490Y exm464615 5 80024738 [A/G] NM_002439 MSH3 EXON Missense_K508E exm464616 5 80024783 [A/G] NM_002439 MSH3 EXON Missense_E523K exm464617 5 80037285 [A/C] NM_002439 MSH3 EXON Missense_N524T exm464624 5 80040412 [A/C] NM_002439 MSH3 EXON Missense_T581P exm464639 5 80063860 [T/C] NM_002439 MSH3 EXON Missense_R669W exm464642 5 80063871 [T/G] NM_002439 MSH3 EXON Missense_I672M exm464643 5 80063896 [T/C] NM_002439 MSH3 EXON Missense_P681S exm464644 5 80063899 [C/G] NM_002439 MSH3 EXON Missense_V682L exm464655 5 80071521 [A/G] NM_002439 MSH3 EXON Missense_I754M exm464657 5 80071549 [T/A] NM_002439 MSH3 EXON Missense_I764L exm464662 5 80074556 [A/G] NM_002439 MSH3 EXON Missense_R779H exm464668 5 80083386 [A/G] NM_002439 MSH3 EXON Missense_K813R exm464671 5 80083428 [A/G] NM_002439 MSH3 EXON Missense_H827R exm464674 5 80088565 [G/C] NM_002439 MSH3 EXON Missense_E853Q exm464675 5 80088631 [A/G] NM_002439 MSH3 EXON Missense_D875N exm464677 5 80109479 [T/G] NM_002439 MSH3 EXON Missense_L911W exm464679 5 80109487 [A/G] NM_002439 MSH3 EXON Missense_I914V exm464682 5 80149981 [A/G] NM_002439 MSH3 EXON Missense_Q949R exm464693 5 80168937 [A/G] NM_002439 MSH3 EXON Missense_A1045T exm464703 5 80171613 [T/G] NM_002439 MSH3 EXON Missense_A1116S exm464704 5 80171671 [T/G] NM_002439 MSH3 EXON Missense_L1135R exm464722 5 80338786 [A/G] NM_006909 RASGRF2 EXON Missense_A127T exm464724 5 80363915 [A/G] NM_006909 RASGRF2 EXON Missense_V154I exm2242785 5 80369243 [A/G] NM_006909 RASGRF2 EXON Missense_D287N exm2257363 5 80376142 [T/C] NM_006909 RASGRF2 Silent exm464766 5 80390172 [A/G] NM_006909 RASGRF2 EXON Missense_D537N exm464785 5 80409407 [T/G] NM_006909 RASGRF2 EXON Missense_L713W exm464793 5 80409526 [T/C] NM_006909 RASGRF2 EXON Missense_S753P exm464794 5 80409593 [T/C] NM_006909 RASGRF2 EXON Missense_A775V exm464797 5 80409640 [A/G] NM_006909 RASGRF2 EXON Missense_G791S exm464800 5 80409671 [T/C] NM_006909 RASGRF2 EXON Missense_T801M exm464806 5 80409701 [T/C] NM_006909 RASGRF2 EXON Missense_V811A exm464816 5 80419585 [A/C] NM_006909 RASGRF2 EXON Synonymous_G865G exm464823 5 80476005 [A/G] NM_006909 RASGRF2 EXON Missense_T900A exm464841 5 80508260 [A/G] NM_006909,NR_002754,NR_002755 RASGRF2,RNU5E-1,RNU5D-1 EXON Missense_V1078M,Silent,Silent exm464844 5 80508305 [A/G] NM_006909,NR_002754,NR_002755 RASGRF2,RNU5E-1,RNU5D-1 EXON Missense_V1093M,Silent,Silent exm464850 5 80513260 [A/G] NM_006909,NR_002754,NR_002755 RASGRF2,RNU5E-1,RNU5D-1 EXON Missense_E1174K,Silent,Silent exm464854 5 80521500 [A/G] NM_006909,NR_002754,NR_002755 RASGRF2,RNU5E-1,RNU5D-1 EXON Missense_A1209T,Silent,Silent exm464866 5 80547052 [A/G] NR_002754,NR_002755,NM_001099735,NM_001099736,NM_001825,NR_034123,NR_034121,NR_034122 RNU5E-1,RNU5D-1,CKMT2,CKMT2,CKMT2,LOC100131067,LOC100131067,LOC100131067 EXON Silent,Silent,Missense_R34Q,Missense_R34Q,Missense_R34Q,Silent,Silent,Silent exm464871 5 80548515 [A/G] NR_002754,NR_002755,NM_001099735,NM_001099736,NM_001825,NR_034123,NR_034121,NR_034122 RNU5E-1,RNU5D-1,CKMT2,CKMT2,CKMT2,LOC100131067,LOC100131067,LOC100131067 EXON Silent,Silent,Missense_A52T,Missense_A52T,Missense_A52T,Silent,Silent,Silent exm464875 5 80548545 [A/C] NR_002754,NR_002755,NM_001099735,NM_001099736,NM_001825,NR_034123,NR_034121,NR_034122 RNU5E-1,RNU5D-1,CKMT2,CKMT2,CKMT2,LOC100131067,LOC100131067,LOC100131067 EXON Silent,Silent,Missense_N62H,Missense_N62H,Missense_N62H,Silent,Silent,Silent exm2257364 5 80548643 [A/C] NR_002754,NR_002755,NM_001099735,NM_001099736,NM_001825,NR_034123,NR_034121,NR_034122 RNU5E-1,RNU5D-1,CKMT2,CKMT2,CKMT2,LOC100131067,LOC100131067,LOC100131067 EXON Silent,Silent,Synonymous_G94G,Synonymous_G94G,Synonymous_G94G,Silent,Silent,Silent exm464893 5 80550948 [C/G] NR_002754,NR_002755,NM_001099735,NM_001099736,NM_001825,NR_034123,NR_034121,NR_034122 RNU5E-1,RNU5D-1,CKMT2,CKMT2,CKMT2,LOC100131067,LOC100131067,LOC100131067 EXON Silent,Silent,Missense_A195G,Missense_A195G,Missense_A195G,Silent,Silent,Silent exm464905 5 80553652 [T/C] NR_002754,NR_002755,NM_001099735,NM_001099736,NM_001825,NR_034123,NR_034121,NR_034122 RNU5E-1,RNU5D-1,CKMT2,CKMT2,CKMT2,LOC100131067,LOC100131067,LOC100131067 EXON Silent,Silent,Nonsense_R286X,Nonsense_R286X,Nonsense_R286X,Silent,Silent,Silent exm464908 5 80554946 [A/G] NR_002754,NR_002755,NM_001099735,NM_001099736,NM_001825,NR_034123,NR_034121,NR_034122 RNU5E-1,RNU5D-1,CKMT2,CKMT2,CKMT2,LOC100131067,LOC100131067,LOC100131067 EXON Silent,Silent,Missense_R296Q,Missense_R296Q,Missense_R296Q,Silent,Silent,Silent exm464913 5 80555065 [T/C] NR_002754,NR_002755,NM_001099735,NM_001099736,NM_001825,NR_034123,NR_034121,NR_034122 RNU5E-1,RNU5D-1,CKMT2,CKMT2,CKMT2,LOC100131067,LOC100131067,LOC100131067 EXON Silent,Silent,Missense_L336F,Missense_L336F,Missense_L336F,Silent,Silent,Silent exm2105378 5 80559388 [A/G] NR_002754,NR_002755,NM_001099735,NM_001099736,NM_001825,NR_034123,NR_034121,NR_034122 RNU5E-1,RNU5D-1,CKMT2,CKMT2,CKMT2,LOC100131067,LOC100131067,LOC100131067 EXON Silent,Silent,Missense_A365T,Missense_A365T,Missense_A365T,Silent,Silent,Silent exm464931 5 80600611 [A/G] NR_002754,NR_002755,NM_001131036,NM_001131035,NM_032280 RNU5E-1,RNU5D-1,ZCCHC9,ZCCHC9,ZCCHC9 EXON Silent,Silent,Missense_N12S,Missense_N12S,Missense_N12S exm464932 5 80600619 [C/G] NR_002754,NR_002755,NM_001131036,NM_001131035,NM_032280 RNU5E-1,RNU5D-1,ZCCHC9,ZCCHC9,ZCCHC9 EXON Silent,Silent,Missense_P15A,Missense_P15A,Missense_P15A exm464942 5 80600745 [A/G] NR_002754,NR_002755,NM_001131036,NM_001131035,NM_032280 RNU5E-1,RNU5D-1,ZCCHC9,ZCCHC9,ZCCHC9 EXON Silent,Silent,Missense_K57E,Missense_K57E,Missense_K57E exm464944 5 80600771 [A/C] NR_002754,NR_002755,NM_001131036,NM_001131035,NM_032280 RNU5E-1,RNU5D-1,ZCCHC9,ZCCHC9,ZCCHC9 EXON Silent,Silent,Missense_K65N,Missense_K65N,Missense_K65N exm464946 5 80600821 [A/G] NR_002754,NR_002755,NM_001131036,NM_001131035,NM_032280 RNU5E-1,RNU5D-1,ZCCHC9,ZCCHC9,ZCCHC9 EXON Silent,Silent,Missense_N82S,Missense_N82S,Missense_N82S exm464950 5 80600913 [T/C] NR_002754,NR_002755,NM_001131036,NM_001131035,NM_032280 RNU5E-1,RNU5D-1,ZCCHC9,ZCCHC9,ZCCHC9 EXON Silent,Silent,Missense_R113W,Missense_R113W,Missense_R113W exm464957 5 80604431 [A/G] NR_002754,NR_002755,NM_001131036,NM_001131035,NM_032280 RNU5E-1,RNU5D-1,ZCCHC9,ZCCHC9,ZCCHC9 EXON Silent,Silent,Missense_A146T,Missense_A146T,Missense_A146T exm464971 5 80607095 [T/C] NR_002754,NR_002755,NM_001131036,NM_001131035,NM_032280 RNU5E-1,RNU5D-1,ZCCHC9,ZCCHC9,ZCCHC9 EXON Silent,Silent,Missense_S232P,Missense_S232P,Missense_S232P exm464974 5 80608363 [A/C] NR_002754,NR_002755,NM_001131036,NM_001131035,NM_032280 RNU5E-1,RNU5D-1,ZCCHC9,ZCCHC9,ZCCHC9 EXON Silent,Silent,Missense_E233A,Missense_E233A,Missense_E233A exm464976 5 80608370 [C/G] NR_002754,NR_002755,NM_001131036,NM_001131035,NM_032280 RNU5E-1,RNU5D-1,ZCCHC9,ZCCHC9,ZCCHC9 EXON Silent,Silent,Missense_M235I,Missense_M235I,Missense_M235I exm2257366 5 80626219 [T/C] NR_002754,NR_002755,NM_130767 RNU5E-1,RNU5D-1,ACOT12 EXON Silent,Silent,Synonymous_T554T exm2105390 5 80626274 [A/G] NR_002754,NR_002755,NM_130767 RNU5E-1,RNU5D-1,ACOT12 EXON Silent,Silent,Missense_A536V exm464986 5 80626334 [G/C] NR_002754,NR_002755,NM_130767 RNU5E-1,RNU5D-1,ACOT12 EXON Silent,Silent,Missense_S516T exm2242789 5 80626698 [A/G] NR_002754,NR_002755,NM_130767 RNU5E-1,RNU5D-1,ACOT12 EXON Silent,Silent,Missense_Y485H exm465001 5 80626733 [A/G] NR_002754,NR_002755,NM_130767 RNU5E-1,RNU5D-1,ACOT12 EXON Silent,Silent,Missense_S473L exm465006 5 80628318 [A/G] NR_002754,NR_002755,NM_130767 RNU5E-1,RNU5D-1,ACOT12 EXON Silent,Silent,Nonsense_R457X exm465011 5 80628348 [T/G] NR_002754,NR_002755,NM_130767 RNU5E-1,RNU5D-1,ACOT12 EXON Silent,Silent,Missense_K447Q exm465012 5 80628399 [T/C] NR_002754,NR_002755,NM_130767 RNU5E-1,RNU5D-1,ACOT12 EXON Silent,Silent,Missense_S430G exm465024 5 80639660 [T/C] NR_002754,NR_002755,NM_130767 RNU5E-1,RNU5D-1,ACOT12 EXON Silent,Silent,Missense_I341V exm465025 5 80639678 [A/C] NR_002754,NR_002755,NM_130767 RNU5E-1,RNU5D-1,ACOT12 EXON Silent,Silent,Nonsense_E335X exm465027 5 80640000 [T/C] NR_002754,NR_002755,NM_130767 RNU5E-1,RNU5D-1,ACOT12 EXON Silent,Silent,Missense_R320H exm465040 5 80640844 [A/G] NR_002754,NR_002755,NM_130767 RNU5E-1,RNU5D-1,ACOT12 EXON Silent,Silent,Missense_R264C exm465047 5 80641789 [T/C] NR_002754,NR_002755,NM_130767 RNU5E-1,RNU5D-1,ACOT12 EXON Silent,Silent,Missense_V230I exm465052 5 80643671 [T/G] NR_002754,NR_002755,NM_130767 RNU5E-1,RNU5D-1,ACOT12 EXON Silent,Silent,Missense_P192H exm465057 5 80655766 [T/G] NR_002754,NR_002755,NM_130767 RNU5E-1,RNU5D-1,ACOT12 EXON Silent,Silent,Missense_E151A exm2242790 5 80659647 [A/G] NR_002754,NR_002755,NM_130767 RNU5E-1,RNU5D-1,ACOT12 EXON Silent,Silent,Missense_A107V exm465084 5 80736449 [T/C] NR_002754,NR_002755,NM_001256733,NM_001256734,NM_001256735,NM_001256736,NM_001256732,NM_012446 RNU5E-1,RNU5D-1,SSBP2,SSBP2,SSBP2,SSBP2,SSBP2,SSBP2 EXON Silent,Silent,Missense_M266V,Missense_M264V,Missense_M256V,Missense_M256V,Missense_M294V,Missense_M286V exm465098 5 80769584 [A/G] NM_001256733,NM_001256734,NM_001256735,NM_001256736,NM_001256732,NM_012446 SSBP2,SSBP2,SSBP2,SSBP2,SSBP2,SSBP2 EXON Missense_P149S,Missense_P139S,Missense_P139S,Missense_P139S,Missense_P169S,Missense_P169S exm2242792 5 80770369 [T/C] NM_001256733,NM_001256734,NM_001256735,NM_001256736,NM_001256732,NM_012446 SSBP2,SSBP2,SSBP2,SSBP2,SSBP2,SSBP2 EXON Missense_V129I,Missense_V119I,Missense_V119I,Missense_V119I,Missense_V149I,Missense_V149I exm465105 5 80809509 [C/G] NM_001256733,NM_001256734,NM_001256735,NM_001256736,NM_001256732,NM_012446 SSBP2,SSBP2,SSBP2,SSBP2,SSBP2,SSBP2 EXON Missense_L104V,Silent,Silent,Silent,Missense_L104V,Missense_L104V exm2270220 5 80845428 [T/C] NM_001256733,NM_001256734,NM_001256735,NM_001256736,NM_001256732,NM_012446 SSBP2,SSBP2,SSBP2,SSBP2,SSBP2,SSBP2 Silent,Silent,Silent,Silent,Silent,Silent exm465109 5 80911292 [A/G] NM_001256733,NM_001256734,NM_001256735,NM_001256736,NM_001256732,NM_012446 SSBP2,SSBP2,SSBP2,SSBP2,SSBP2,SSBP2 EXON Synonymous_Y94Y,Synonymous_Y94Y,Synonymous_Y94Y,Synonymous_Y94Y,Synonymous_Y94Y,Synonymous_Y94Y exm-rs410644 5 81087534 [T/G] exm2265967 5 81106956 [A/G] exm465119 5 81283451 [A/G] NM_031482,NM_001131028 ATG10,ATG10 EXON Missense_K21R,Missense_K21R exm465124 5 81354361 [A/T] NM_031482,NM_001131028 ATG10,ATG10 EXON Missense_N52K,Missense_N52K exm465126 5 81354386 [A/G] NM_031482,NM_001131028 ATG10,ATG10 EXON Missense_A61T,Missense_A61T exm465128 5 81354389 [T/C] NM_031482,NM_001131028 ATG10,ATG10 EXON Missense_S62P,Missense_S62P exm465145 5 81548443 [T/G] NM_031482,NM_001131028 ATG10,ATG10 EXON Missense_M172I,Missense_M172I exm465151 5 81549216 [T/C] NM_031482,NM_001131028 ATG10,ATG10 EXON Missense_T212M,Missense_T212M exm465153 5 81549240 [A/C] NM_031482,NM_001131028 ATG10,ATG10 EXON Missense_P220H,Missense_P220H exm465175 5 81601230 [T/C] NM_001017971 ATP6AP1L EXON Missense_W4R exm465176 5 81601266 [A/G] NM_001017971 ATP6AP1L EXON Missense_A16T exm465182 5 81608444 [A/G] NM_001017971 ATP6AP1L EXON Missense_N49S exm465186 5 81608503 [A/G] NM_001017971 ATP6AP1L EXON Missense_N69D exm465187 5 81608521 [T/G] NM_001017971 ATP6AP1L EXON Missense_V75F exm465189 5 81608561 [T/C] NM_001017971 ATP6AP1L EXON Missense_S88F exm465190 5 81608563 [T/C] NM_001017971 ATP6AP1L EXON Missense_Y89H exm465192 5 81608635 [T/C] NM_001017971 ATP6AP1L EXON Missense_S113P exm465196 5 81613844 [T/C] NM_001017971 ATP6AP1L EXON Nonsense_R134X exm2270078 5 81718588 [T/C] exm-rs1032757 5 81939318 [A/G] exm2266095 5 82086511 [A/G] exm2265968 5 82184403 [A/G] exm465237 5 82400773 [C/G] NM_003401,NM_022550,NM_022406 XRCC4,XRCC4,XRCC4 EXON Missense_S12C,Missense_S12C,Missense_S12C exm465238 5 82406873 [A/G] NM_003401,NM_022550,NM_022406 XRCC4,XRCC4,XRCC4 EXON Missense_A56T,Missense_A56T,Missense_A56T exm465241 5 82406931 [T/C] NM_003401,NM_022550,NM_022406 XRCC4,XRCC4,XRCC4 EXON Missense_L75S,Missense_L75S,Missense_L75S exm465243 5 82407014 [A/G] NM_003401,NM_022550,NM_022406 XRCC4,XRCC4,XRCC4 EXON Missense_D103N,Missense_D103N,Missense_D103N exm465244 5 82491674 [T/C] NM_003401,NM_022550,NM_022406 XRCC4,XRCC4,XRCC4 EXON Missense_I134T,Missense_I134T,Missense_I134T exm465246 5 82491684 [T/G] NM_003401,NM_022550,NM_022406 XRCC4,XRCC4,XRCC4 EXON Missense_N137K,Missense_N137K,Missense_N137K exm465247 5 82491697 [C/G] NM_003401,NM_022550,NM_022406 XRCC4,XRCC4,XRCC4 EXON Missense_E142Q,Missense_E142Q,Missense_E142Q exm465259 5 82500734 [T/G] NM_003401,NM_022550,NM_022406 XRCC4,XRCC4,XRCC4 EXON Missense_A247S,Missense_A247S,Missense_A247S exm465261 5 82554375 [A/G] NM_003401,NM_022550,NM_022406 XRCC4,XRCC4,XRCC4 EXON Missense_I258V,Missense_I258V,Missense_I258V exm465267 5 82648943 [A/G] NM_003401,NM_022550,NM_022406 XRCC4,XRCC4,XRCC4 Silent,Silent,Silent exm465274 5 82649057 [T/C] NM_003401,NM_022550,NM_022406 XRCC4,XRCC4,XRCC4 EXON Missense_I334T,Missense_I334T,Missense_I336T exm465289 5 82786067 [A/G] NM_004385,NM_001164097,NM_001164098,NM_001126336 VCAN,VCAN,VCAN,VCAN EXON Missense_N74S,Missense_N74S,Missense_N74S,Missense_N74S exm465294 5 82786240 [A/G] NM_004385,NM_001164097,NM_001164098,NM_001126336 VCAN,VCAN,VCAN,VCAN EXON Missense_V132I,Missense_V132I,Missense_V132I,Missense_V132I exm465304 5 82789493 [A/G] NM_004385,NM_001164097,NM_001164098,NM_001126336 VCAN,VCAN,VCAN,VCAN EXON Missense_G192R,Missense_G192R,Missense_G192R,Missense_G192R exm465311 5 82808027 [T/C] NM_004385,NM_001164097,NM_001164098,NM_001126336 VCAN,VCAN,VCAN,VCAN EXON Missense_A285V,Missense_A285V,Missense_A285V,Missense_A285V exm465314 5 82808072 [T/C] NM_004385,NM_001164097,NM_001164098,NM_001126336 VCAN,VCAN,VCAN,VCAN EXON Missense_S300L,Missense_S300L,Missense_S300L,Missense_S300L exm465317 5 82808182 [G/C] NM_004385,NM_001164097,NM_001164098,NM_001126336 VCAN,VCAN,VCAN,VCAN EXON Missense_P337A,Missense_P337A,Missense_P337A,Missense_P337A exm465320 5 82815170 [A/G] NM_004385,NM_001164097,NM_001164098,NM_001126336 VCAN,VCAN,VCAN,VCAN EXON Missense_K349E,Silent,Missense_K349E,Silent exm465324 5 82815252 [A/C] NM_004385,NM_001164097,NM_001164098,NM_001126336 VCAN,VCAN,VCAN,VCAN EXON Missense_D376A,Silent,Missense_D376A,Silent exm2105554 5 82815317 [A/G] NM_004385,NM_001164097,NM_001164098,NM_001126336 VCAN,VCAN,VCAN,VCAN EXON Missense_V398M,Silent,Missense_V398M,Silent exm465332 5 82815368 [A/G] NM_004385,NM_001164097,NM_001164098,NM_001126336 VCAN,VCAN,VCAN,VCAN EXON Missense_I415V,Silent,Missense_I415V,Silent exm465335 5 82815408 [A/G] NM_004385,NM_001164097,NM_001164098,NM_001126336 VCAN,VCAN,VCAN,VCAN EXON Missense_G428D,Silent,Missense_G428D,Silent exm465341 5 82815494 [A/G] NM_004385,NM_001164097,NM_001164098,NM_001126336 VCAN,VCAN,VCAN,VCAN EXON Missense_E457K,Silent,Missense_E457K,Silent exm465343 5 82815525 [T/C] NM_004385,NM_001164097,NM_001164098,NM_001126336 VCAN,VCAN,VCAN,VCAN EXON Missense_S467F,Silent,Missense_S467F,Silent exm465350 5 82815648 [A/T] NM_004385,NM_001164097,NM_001164098,NM_001126336 VCAN,VCAN,VCAN,VCAN EXON Missense_I508N,Silent,Missense_I508N,Silent exm465356 5 82815833 [T/A] NM_004385,NM_001164097,NM_001164098,NM_001126336 VCAN,VCAN,VCAN,VCAN EXON Missense_T570S,Silent,Missense_T570S,Silent exm465357 5 82815878 [A/G] NM_004385,NM_001164097,NM_001164098,NM_001126336 VCAN,VCAN,VCAN,VCAN EXON Missense_T585A,Silent,Missense_T585A,Silent exm465362 5 82815989 [T/C] NM_004385,NM_001164097,NM_001164098,NM_001126336 VCAN,VCAN,VCAN,VCAN EXON Missense_W622R,Silent,Missense_W622R,Silent exm465364 5 82816020 [T/C] NM_004385,NM_001164097,NM_001164098,NM_001126336 VCAN,VCAN,VCAN,VCAN EXON Missense_T632M,Silent,Missense_T632M,Silent exm465366 5 82816056 [T/C] NM_004385,NM_001164097,NM_001164098,NM_001126336 VCAN,VCAN,VCAN,VCAN EXON Missense_P644L,Silent,Missense_P644L,Silent exm465372 5 82816190 [A/G] NM_004385,NM_001164097,NM_001164098,NM_001126336 VCAN,VCAN,VCAN,VCAN EXON Missense_T689A,Silent,Missense_T689A,Silent exm465375 5 82816284 [T/C] NM_004385,NM_001164097,NM_001164098,NM_001126336 VCAN,VCAN,VCAN,VCAN EXON Missense_V720A,Silent,Missense_V720A,Silent exm465378 5 82816359 [A/C] NM_004385,NM_001164097,NM_001164098,NM_001126336 VCAN,VCAN,VCAN,VCAN EXON Missense_K745T,Silent,Missense_K745T,Silent exm465383 5 82816440 [G/C] NM_004385,NM_001164097,NM_001164098,NM_001126336 VCAN,VCAN,VCAN,VCAN EXON Missense_A772G,Silent,Missense_A772G,Silent exm465385 5 82816503 [T/C] NM_004385,NM_001164097,NM_001164098,NM_001126336 VCAN,VCAN,VCAN,VCAN EXON Missense_L793S,Silent,Missense_L793S,Silent exm465390 5 82816667 [A/G] NM_004385,NM_001164097,NM_001164098,NM_001126336 VCAN,VCAN,VCAN,VCAN EXON Missense_E848K,Silent,Missense_E848K,Silent exm465391 5 82816743 [T/G] NM_004385,NM_001164097,NM_001164098,NM_001126336 VCAN,VCAN,VCAN,VCAN EXON Missense_I873R,Silent,Missense_I873R,Silent exm465392 5 82816781 [A/G] NM_004385,NM_001164097,NM_001164098,NM_001126336 VCAN,VCAN,VCAN,VCAN EXON Missense_T886A,Silent,Missense_T886A,Silent exm465393 5 82816791 [T/C] NM_004385,NM_001164097,NM_001164098,NM_001126336 VCAN,VCAN,VCAN,VCAN EXON Missense_T889I,Silent,Missense_T889I,Silent exm465394 5 82816793 [T/G] NM_004385,NM_001164097,NM_001164098,NM_001126336 VCAN,VCAN,VCAN,VCAN EXON Missense_G890C,Silent,Missense_G890C,Silent exm465398 5 82817000 [A/T] NM_004385,NM_001164097,NM_001164098,NM_001126336 VCAN,VCAN,VCAN,VCAN EXON Missense_S959C,Silent,Missense_S959C,Silent exm465402 5 82817012 [T/C] NM_004385,NM_001164097,NM_001164098,NM_001126336 VCAN,VCAN,VCAN,VCAN EXON Missense_P963S,Silent,Missense_P963S,Silent exm465404 5 82817034 [T/C] NM_004385,NM_001164097,NM_001164098,NM_001126336 VCAN,VCAN,VCAN,VCAN EXON Missense_S970F,Silent,Missense_S970F,Silent exm465413 5 82817219 [C/G] NM_004385,NM_001164097,NM_001164098,NM_001126336 VCAN,VCAN,VCAN,VCAN EXON Missense_Q1032E,Silent,Missense_Q1032E,Silent exm465414 5 82817234 [T/C] NM_004385,NM_001164097,NM_001164098,NM_001126336 VCAN,VCAN,VCAN,VCAN EXON Missense_W1037R,Silent,Missense_W1037R,Silent exm2105575 5 82817499 [A/G] NM_004385,NM_001164097,NM_001164098,NM_001126336 VCAN,VCAN,VCAN,VCAN EXON Missense_R1125H,Silent,Missense_R1125H,Silent exm465431 5 82817834 [A/G] NM_004385,NM_001164097,NM_001164098,NM_001126336 VCAN,VCAN,VCAN,VCAN EXON Missense_D1237N,Silent,Missense_D1237N,Silent exm465432 5 82817838 [C/G] NM_004385,NM_001164097,NM_001164098,NM_001126336 VCAN,VCAN,VCAN,VCAN EXON Missense_R1238T,Silent,Missense_R1238T,Silent exm465437 5 82818051 [T/C] NM_004385,NM_001164097,NM_001164098,NM_001126336 VCAN,VCAN,VCAN,VCAN EXON Missense_T1309M,Silent,Missense_T1309M,Silent exm465438 5 82818082 [A/C] NM_004385,NM_001164097,NM_001164098,NM_001126336 VCAN,VCAN,VCAN,VCAN EXON Missense_H1319Q,Silent,Missense_H1319Q,Silent exm465445 5 82832894 [A/G] NM_004385,NM_001164097,NM_001164098,NM_001126336 VCAN,VCAN,VCAN,VCAN EXON Missense_S1358G,Missense_S371G,Silent,Silent exm465452 5 82833203 [A/T] NM_004385,NM_001164097,NM_001164098,NM_001126336 VCAN,VCAN,VCAN,VCAN EXON Missense_L1461M,Missense_L474M,Silent,Silent exm2257370 5 82833244 [T/C] NM_004385,NM_001164097,NM_001164098,NM_001126336 VCAN,VCAN,VCAN,VCAN EXON Synonymous_T1474T,Synonymous_T487T,Silent,Silent exm2105589 5 82833368 [A/G] NM_004385,NM_001164097,NM_001164098,NM_001126336 VCAN,VCAN,VCAN,VCAN EXON Missense_K1516E,Missense_K529E,Silent,Silent exm465458 5 82833369 [A/G] NM_004385,NM_001164097,NM_001164098,NM_001126336 VCAN,VCAN,VCAN,VCAN EXON Missense_K1516R,Missense_K529R,Silent,Silent exm465461 5 82833426 [A/G] NM_004385,NM_001164097,NM_001164098,NM_001126336 VCAN,VCAN,VCAN,VCAN EXON Missense_E1535G,Missense_E548G,Silent,Silent exm465464 5 82833465 [T/C] NM_004385,NM_001164097,NM_001164098,NM_001126336 VCAN,VCAN,VCAN,VCAN EXON Missense_S1548L,Missense_S561L,Silent,Silent exm465471 5 82833584 [A/C] NM_004385,NM_001164097,NM_001164098,NM_001126336 VCAN,VCAN,VCAN,VCAN EXON Missense_P1588T,Missense_P601T,Silent,Silent exm465477 5 82833891 [A/G] NM_004385,NM_001164097,NM_001164098,NM_001126336 VCAN,VCAN,VCAN,VCAN EXON Missense_Y1690C,Missense_Y703C,Silent,Silent exm465481 5 82833977 [T/A] NM_004385,NM_001164097,NM_001164098,NM_001126336 VCAN,VCAN,VCAN,VCAN EXON Missense_T1719S,Missense_T732S,Silent,Silent exm465484 5 82834023 [T/C] NM_004385,NM_001164097,NM_001164098,NM_001126336 VCAN,VCAN,VCAN,VCAN EXON Missense_T1734M,Missense_T747M,Silent,Silent exm465491 5 82834232 [A/G] NM_004385,NM_001164097,NM_001164098,NM_001126336 VCAN,VCAN,VCAN,VCAN EXON Missense_A1804T,Missense_A817T,Silent,Silent exm465494 5 82834299 [A/G] NM_004385,NM_001164097,NM_001164098,NM_001126336 VCAN,VCAN,VCAN,VCAN EXON Missense_R1826H,Missense_R839H,Silent,Silent exm465498 5 82834398 [A/C] NM_004385,NM_001164097,NM_001164098,NM_001126336 VCAN,VCAN,VCAN,VCAN EXON Missense_A1859E,Missense_A872E,Silent,Silent exm465502 5 82834437 [T/C] NM_004385,NM_001164097,NM_001164098,NM_001126336 VCAN,VCAN,VCAN,VCAN EXON Missense_P1872L,Missense_P885L,Silent,Silent exm465505 5 82834538 [A/G] NM_004385,NM_001164097,NM_001164098,NM_001126336 VCAN,VCAN,VCAN,VCAN EXON Missense_I1906V,Missense_I919V,Silent,Silent exm465507 5 82834572 [A/T] NM_004385,NM_001164097,NM_001164098,NM_001126336 VCAN,VCAN,VCAN,VCAN EXON Missense_Y1917F,Missense_Y930F,Silent,Silent exm465512 5 82834769 [T/A] NM_004385,NM_001164097,NM_001164098,NM_001126336 VCAN,VCAN,VCAN,VCAN EXON Missense_I1983L,Missense_I996L,Silent,Silent exm465532 5 82835144 [G/C] NM_004385,NM_001164097,NM_001164098,NM_001126336 VCAN,VCAN,VCAN,VCAN EXON Missense_Q2108E,Missense_Q1121E,Silent,Silent exm465533 5 82835304 [A/G] NM_004385,NM_001164097,NM_001164098,NM_001126336 VCAN,VCAN,VCAN,VCAN EXON Missense_K2161R,Missense_K1174R,Silent,Silent exm465545 5 82835589 [T/C] NM_004385,NM_001164097,NM_001164098,NM_001126336 VCAN,VCAN,VCAN,VCAN EXON Missense_L2256P,Missense_L1269P,Silent,Silent exm465548 5 82835724 [T/A] NM_004385,NM_001164097,NM_001164098,NM_001126336 VCAN,VCAN,VCAN,VCAN EXON Missense_F2301Y,Missense_F1314Y,Silent,Silent exm465551 5 82835852 [T/C] NM_004385,NM_001164097,NM_001164098,NM_001126336 VCAN,VCAN,VCAN,VCAN EXON Missense_P2344S,Missense_P1357S,Silent,Silent exm465558 5 82835951 [A/G] NM_004385,NM_001164097,NM_001164098,NM_001126336 VCAN,VCAN,VCAN,VCAN EXON Missense_I2377V,Missense_I1390V,Silent,Silent exm2105610 5 82835958 [T/A] NM_004385,NM_001164097,NM_001164098,NM_001126336 VCAN,VCAN,VCAN,VCAN EXON Missense_E2379V,Missense_E1392V,Silent,Silent exm465563 5 82836000 [T/A] NM_004385,NM_001164097,NM_001164098,NM_001126336 VCAN,VCAN,VCAN,VCAN EXON Missense_E2393V,Missense_E1406V,Silent,Silent exm465573 5 82836201 [T/C] NM_004385,NM_001164097,NM_001164098,NM_001126336 VCAN,VCAN,VCAN,VCAN EXON Missense_V2460A,Missense_V1473A,Silent,Silent exm465579 5 82836311 [A/G] NM_004385,NM_001164097,NM_001164098,NM_001126336 VCAN,VCAN,VCAN,VCAN EXON Missense_K2497E,Missense_K1510E,Silent,Silent exm465584 5 82836390 [A/G] NM_004385,NM_001164097,NM_001164098,NM_001126336 VCAN,VCAN,VCAN,VCAN EXON Missense_R2523H,Missense_R1536H,Silent,Silent exm465590 5 82836537 [T/C] NM_004385,NM_001164097,NM_001164098,NM_001126336 VCAN,VCAN,VCAN,VCAN EXON Missense_S2572L,Missense_S1585L,Silent,Silent exm465596 5 82836690 [A/G] NM_004385,NM_001164097,NM_001164098,NM_001126336 VCAN,VCAN,VCAN,VCAN EXON Missense_Y2623C,Missense_Y1636C,Silent,Silent exm465599 5 82836715 [A/T] NM_004385,NM_001164097,NM_001164098,NM_001126336 VCAN,VCAN,VCAN,VCAN EXON Missense_L2631F,Missense_L1644F,Silent,Silent exm465602 5 82836789 [T/C] NM_004385,NM_001164097,NM_001164098,NM_001126336 VCAN,VCAN,VCAN,VCAN EXON Missense_T2656I,Missense_T1669I,Silent,Silent exm465604 5 82836834 [A/C] NM_004385,NM_001164097,NM_001164098,NM_001126336 VCAN,VCAN,VCAN,VCAN EXON Missense_T2671K,Missense_T1684K,Silent,Silent exm465609 5 82836912 [A/G] NM_004385,NM_001164097,NM_001164098,NM_001126336 VCAN,VCAN,VCAN,VCAN EXON Missense_R2697H,Missense_R1710H,Silent,Silent exm465616 5 82837087 [A/T] NM_004385,NM_001164097,NM_001164098,NM_001126336 VCAN,VCAN,VCAN,VCAN EXON Missense_K2755N,Missense_K1768N,Silent,Silent exm2105617 5 82837184 [A/G] NM_004385,NM_001164097,NM_001164098,NM_001126336 VCAN,VCAN,VCAN,VCAN EXON Missense_M2788V,Missense_M1801V,Silent,Silent exm465621 5 82837247 [A/G] NM_004385,NM_001164097,NM_001164098,NM_001126336 VCAN,VCAN,VCAN,VCAN EXON Missense_D2809N,Missense_D1822N,Silent,Silent exm465628 5 82837443 [T/C] NM_004385,NM_001164097,NM_001164098,NM_001126336 VCAN,VCAN,VCAN,VCAN EXON Missense_A2874V,Missense_A1887V,Silent,Silent exm465631 5 82837470 [A/G] NM_004385,NM_001164097,NM_001164098,NM_001126336 VCAN,VCAN,VCAN,VCAN EXON Missense_Y2883C,Missense_Y1896C,Silent,Silent exm465632 5 82837505 [G/C] NM_004385,NM_001164097,NM_001164098,NM_001126336 VCAN,VCAN,VCAN,VCAN EXON Missense_D2895H,Missense_D1908H,Silent,Silent exm465635 5 82837586 [A/G] NM_004385,NM_001164097,NM_001164098,NM_001126336 VCAN,VCAN,VCAN,VCAN EXON Missense_A2922T,Missense_A1935T,Silent,Silent exm465638 5 82837631 [T/G] NM_004385,NM_001164097,NM_001164098,NM_001126336 VCAN,VCAN,VCAN,VCAN EXON Missense_D2937Y,Missense_D1950Y,Silent,Silent exm465639 5 82837695 [T/C] NM_004385,NM_001164097,NM_001164098,NM_001126336 VCAN,VCAN,VCAN,VCAN EXON Missense_T2958I,Missense_T1971I,Silent,Silent exm2105618 5 82837741 [C/G] NM_004385,NM_001164097,NM_001164098,NM_001126336 VCAN,VCAN,VCAN,VCAN EXON Missense_Q2973H,Missense_Q1986H,Silent,Silent exm465648 5 82837847 [A/G] NM_004385,NM_001164097,NM_001164098,NM_001126336 VCAN,VCAN,VCAN,VCAN EXON Missense_E3009K,Missense_E2022K,Silent,Silent exm465649 5 82837855 [A/C] NM_004385,NM_001164097,NM_001164098,NM_001126336 VCAN,VCAN,VCAN,VCAN EXON Missense_N3011K,Missense_N2024K,Silent,Silent exm465655 5 82837926 [T/C] NM_004385,NM_001164097,NM_001164098,NM_001126336 VCAN,VCAN,VCAN,VCAN EXON Missense_A3035V,Missense_A2048V,Silent,Silent exm2105619 5 82837946 [A/G] NM_004385,NM_001164097,NM_001164098,NM_001126336 VCAN,VCAN,VCAN,VCAN EXON Missense_D3042N,Missense_D2055N,Silent,Silent exm465657 5 82837956 [C/G] NM_004385,NM_001164097,NM_001164098,NM_001126336 VCAN,VCAN,VCAN,VCAN EXON Missense_T3045R,Missense_T2058R,Silent,Silent exm2105625 5 82843864 [G/C] NM_004385,NM_001164097,NM_001164098,NM_001126336 VCAN,VCAN,VCAN,VCAN EXON Missense_L3152V,Missense_L2165V,Missense_L1398V,Missense_L411V exm465680 5 82868257 [A/G] NM_004385,NM_001164097,NM_001164098,NM_001126336 VCAN,VCAN,VCAN,VCAN EXON Missense_N3253S,Missense_N2266S,Missense_N1499S,Missense_N512S exm2257371 5 82869258 [T/C] NM_004385,NM_001164097,NM_001164098,NM_001126336 VCAN,VCAN,VCAN,VCAN Silent,Silent,Silent,Silent exm465684 5 82875800 [T/C] NM_004385,NM_001164097,NM_001164098,NM_001126336 VCAN,VCAN,VCAN,VCAN EXON Synonymous_V3294V,Synonymous_V2307V,Synonymous_V1540V,Synonymous_V553V exm-rs310501 5 82889910 [A/G] exm465703 5 82937374 [T/C] NM_001884 HAPLN1 EXON Missense_G336S exm465704 5 82937410 [T/G] NM_001884 HAPLN1 EXON Missense_R324S exm465705 5 82937422 [T/C] NM_001884 HAPLN1 EXON Missense_R320G exm465711 5 82937538 [T/C] NM_001884 HAPLN1 EXON Missense_N281S exm465712 5 82937539 [T/C] NM_001884 HAPLN1 EXON Missense_N281D exm2242801 5 82937561 [A/C] NM_001884 HAPLN1 EXON Missense_D273E exm2242802 5 82940365 [A/G] NM_001884 HAPLN1 EXON Missense_W198R exm465718 5 82940371 [T/C] NM_001884 HAPLN1 EXON Missense_D196N exm465737 5 82948425 [T/C] NM_001884 HAPLN1 EXON Missense_G107S exm2105656 5 82948542 [T/C] NM_001884 HAPLN1 EXON Missense_T68A exm465741 5 82948588 [T/G] NM_001884 HAPLN1 EXON Missense_H52Q exm465745 5 82969258 [T/C] NM_001884 HAPLN1 EXON Missense_A29T exm-rs4466137 5 82985739 [T/G] NM_001884 HAPLN1 Silent exm2270221 5 83136574 [T/C] exm465753 5 83239249 [G/C] NM_005711 EDIL3 EXON Missense_E478Q exm465768 5 83356226 [A/G] NM_005711 EDIL3 EXON Missense_L344F exm2242804 5 83356297 [T/G] NM_005711 EDIL3 EXON Missense_S320Y exm465772 5 83360520 [T/C] NM_005711 EDIL3 EXON Synonymous_S317S exm2105678 5 83360606 [T/C] NM_005711 EDIL3 EXON Missense_I289V exm465781 5 83360638 [T/C] NM_005711 EDIL3 EXON Missense_N278S exm465783 5 83360648 [T/C] NM_005711 EDIL3 EXON Missense_I275V exm465785 5 83362312 [G/C] NM_005711 EDIL3 EXON Missense_K255N exm465795 5 83402582 [A/G] NM_005711 EDIL3 EXON Missense_T179I exm465800 5 83433087 [A/G] NM_005711 EDIL3 EXON Synonymous_G147G exm2257373 5 83433087 [A/G] NM_005711 EDIL3 EXON Synonymous_G147G exm2105694 5 83433137 [T/C] NM_005711 EDIL3 EXON Missense_G131S exm-rs347344 5 83499643 [T/C] NM_005711 EDIL3 Silent exm465819 5 83550025 [T/C] NM_005711 EDIL3 EXON Missense_I25V exm2257374 5 83856400 [T/C] exm-rs7717527 5 83856911 [A/G] exm2264145 5 84088448 [A/C] exm2264126 5 84452107 [A/C] exm-rs4920799 5 84606528 [T/C] exm2261982 5 84863244 [A/G] exm2257377 5 84886843 [T/C] exm2264146 5 85359196 [A/C] exm2265970 5 85651034 [A/G] exm-rs9293471 5 85960197 [A/G] exm2270083 5 86124692 [T/C] exm2266097 5 86366246 [A/G] exm-rs2032794 5 86432617 [T/C] exm-rs254658 5 86470998 [A/C] exm465841 5 86564430 [C/G] NM_002890 RASA1 EXON Missense_E54D exm465845 5 86564477 [A/G] NM_002890 RASA1 EXON Missense_E70G exm465850 5 86564564 [T/C] NM_002890 RASA1 EXON Missense_A99V exm465851 5 86564572 [T/G] NM_002890 RASA1 EXON Missense_V102L exm465852 5 86564587 [G/C] NM_002890 RASA1 EXON Missense_V107L exm2105757 5 86627242 [T/C] NM_002890,NM_022650 RASA1,RASA1 EXON Missense_I206T,Missense_I29T exm2275226 5 86628325 [A/G] NM_002890,NM_022650 RASA1,RASA1 EXON Missense_I232V,Missense_I55V exm465911 5 86658429 [A/G] NM_002890,NM_022650 RASA1,RASA1 EXON Missense_R465H,Missense_R288H exm465913 5 86658444 [G/C] NM_002890,NM_022650 RASA1,RASA1 EXON Missense_A470G,Missense_A293G exm465915 5 86659294 [A/G] NM_002890,NM_022650 RASA1,RASA1 EXON Missense_Y528C,Missense_Y351C exm465939 5 86675592 [A/C] NM_002890,NM_022650 RASA1,RASA1 EXON Missense_T843N,Missense_T666N exm465941 5 86675667 [T/C] NM_002890,NM_022650 RASA1,RASA1 EXON Missense_P868L,Missense_P691L exm465942 5 86676384 [A/G] NM_002890,NM_022650 RASA1,RASA1 EXON Missense_N888D,Missense_N711D exm465945 5 86679564 [A/G] NM_002890,NM_022650 RASA1,RASA1 EXON Missense_I909V,Missense_I732V exm465948 5 86681132 [A/G] NM_002890,NM_022650 RASA1,RASA1 EXON Missense_I925V,Missense_I748V exm465980 5 86695211 [A/G] NM_001239,NM_001199189 CCNH,CCNH EXON Missense_T291M,Missense_T238M exm465985 5 86695274 [A/G] NM_001239,NM_001199189 CCNH,CCNH EXON Missense_V270A,Missense_V217A exm465987 5 86697540 [A/G] NM_001239,NM_001199189 CCNH,CCNH EXON Nonsense_Q247X,Nonsense_Q194X exm465999 5 86703905 [T/C] NM_001239,NM_001199189 CCNH,CCNH EXON Missense_K138R,Missense_K85R exm466000 5 86703934 [T/G] NM_001239,NM_001199189 CCNH,CCNH EXON Missense_N128K,Missense_N75K exm466008 5 86705170 [A/C] NM_001239,NM_001199189 CCNH,CCNH EXON Missense_C84F,Missense_C31F exm466011 5 86707120 [A/G] NM_001239,NM_001199189 CCNH,CCNH EXON Missense_M54T,Missense_M1T exm466012 5 86707121 [T/C] NM_001239,NM_001199189 CCNH,CCNH EXON Missense_M54V,Missense_M1V exm2105833 5 86708529 [A/C] NM_001239,NM_001199189 CCNH,CCNH EXON Missense_R28L,Silent exm2242819 5 86708721 [A/C] NM_001239,NM_001199189 CCNH,CCNH EXON Silent,Silent exm2257381 5 86714840 [A/G] exm2257382 5 87047416 [A/C] exm2270222 5 87070858 [T/G] exm466030 5 87493525 [T/C] NM_153354 TMEM161B EXON Missense_V383I exm466050 5 87502292 [A/G] NM_153354 TMEM161B EXON Missense_A208V exm2257384 5 87513775 [T/C] NM_153354 TMEM161B Silent exm2242821 5 87516435 [T/C] NM_153354 TMEM161B EXON Missense_T131A exm466065 5 87516503 [A/C] NM_153354 TMEM161B EXON Missense_V108G exm466077 5 87536663 [T/C] NM_153354 TMEM161B EXON Missense_Y25C exm-rs17421627 5 87847586 [T/G] NR_015436 LINC00461 Silent exm-rs770189 5 88088439 [G/C] NM_002397,NM_001193349,NM_001193350,NM_001131005,NM_001193347,NM_001193348 MEF2C,MEF2C,MEF2C,MEF2C,MEF2C,MEF2C Silent,Silent,Silent,Silent,Silent,Silent exm2266098 5 88233654 [A/G] exm-rs10037512 5 88354675 [T/C] exm-rs1366594 5 88376061 [A/C] exm-rs9293511 5 88416354 [T/C] exm2270086 5 88778861 [T/C] exm2265972 5 89418270 [A/G] exm2266099 5 89469753 [A/G] exm-rs12518099 5 89546109 [A/G] exm2257389 5 89643399 [A/G] exm466124 5 89703515 [C/G] NM_004365 CETN3 Silent exm2257390 5 89703561 [T/C] NM_004365 CETN3 EXON Synonymous_L36L exm466127 5 89703561 [T/C] NM_004365 CETN3 EXON Synonymous_L36L exm466128 5 89703617 [T/C] NM_004365 CETN3 EXON Missense_K18E exm466129 5 89703641 [C/G] NM_004365 CETN3 EXON Missense_V10L exm466143 5 89757164 [C/G] NM_203406 MBLAC2 EXON Missense_D220E exm466147 5 89757237 [A/G] NM_203406 MBLAC2 EXON Missense_L196P exm466158 5 89769728 [T/C] NM_203406 MBLAC2 EXON Missense_T128A exm466172 5 89769974 [T/A] NM_203406 MBLAC2 EXON Missense_T46S exm466174 5 89769986 [A/C] NM_203406 MBLAC2 EXON Missense_V42L exm2105930 5 89781500 [T/C] NM_006467 POLR3G EXON Missense_P39L exm466190 5 89783924 [T/G] NM_006467 POLR3G EXON Missense_I75M exm466196 5 89797805 [A/G] NM_006467 POLR3G EXON Synonymous_E146E exm2274083 5 89814764 [A/G] NM_198273 LYSMD3 EXON Missense_P265S exm466212 5 89814788 [T/A] NM_198273 LYSMD3 EXON Missense_S257T exm466220 5 89814965 [T/G] NM_198273 LYSMD3 EXON Missense_P198T exm466223 5 89814977 [T/A] NM_198273 LYSMD3 EXON Missense_M194L exm466229 5 89815108 [T/G] NM_198273 LYSMD3 EXON Missense_S150Y exm466231 5 89815165 [T/C] NM_198273 LYSMD3 EXON Missense_R131H exm466241 5 89821097 [T/C] NM_198273 LYSMD3 EXON Missense_R4G exm466251 5 89910784 [A/G] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_R52H exm466259 5 89914907 [T/C] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_P121L exm466260 5 89914925 [T/G] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_L127R exm466263 5 89918423 [A/G] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_I155V exm466264 5 89918426 [A/G] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_A156T exm466268 5 89920962 [A/G] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_N192D exm466269 5 89920969 [A/C] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_P194H exm466270 5 89920984 [T/G] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_S199I exm466274 5 89923041 [A/G] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_D229G exm466278 5 89923074 [A/G] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_E240G exm466280 5 89923101 [A/G] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_R249K exm2105965 5 89923208 [C/G] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_R285G exm466287 5 89923388 [A/C] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_Q345K exm466297 5 89924551 [C/G] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_V471L exm466304 5 89925039 [A/C] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_I508L exm466308 5 89925169 [T/C] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_V551A exm466309 5 89925235 [T/G] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_G573V exm466313 5 89925334 [A/C] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_N606T exm466315 5 89925354 [A/C] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_Q613K exm466317 5 89930940 [A/G] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_V617M exm466319 5 89930946 [T/G] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_L619V exm2105981 5 89933548 [A/C] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_I675L exm466326 5 89933644 [A/T] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_I707L exm466342 5 89938761 [A/G] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_S819N exm466343 5 89938764 [A/G] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_N820S exm466351 5 89939702 [T/C] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_T879M exm466353 5 89940528 [T/C] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_Y914H exm466367 5 89943443 [T/G] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_D1051Y exm466370 5 89943483 [A/C] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_E1064A exm466372 5 89943495 [A/G] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_R1068K exm466375 5 89943571 [T/G] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_L1093F exm466378 5 89947426 [A/G] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_T1099A exm466381 5 89948189 [A/G] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_G1148D exm466382 5 89948228 [C/G] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_S1161C exm466383 5 89948255 [A/G] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_Y1170C exm466384 5 89948305 [A/G] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_I1187V exm466393 5 89949229 [A/G] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_D1280N exm466395 5 89949325 [A/G] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_V1312M exm466396 5 89949347 [A/G] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_R1319Q exm466410 5 89949605 [T/C] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_S1405F exm466418 5 89949754 [A/G] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_E1455K exm466419 5 89953815 [T/C] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_T1491M exm466422 5 89953850 [A/G] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_A1503T exm466427 5 89954009 [A/G] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_E1556K exm466430 5 89968474 [T/C] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_Y1622H exm466434 5 89969880 [A/G] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_I1647V exm466439 5 89970013 [T/C] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_T1691M exm466449 5 89971209 [A/G] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_T1754A exm466450 5 89971213 [T/C] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_A1755V exm466452 5 89971231 [C/G] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_S1761C exm466454 5 89971244 [C/G] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_F1765L exm466470 5 89977264 [G/C] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_T1886R exm466474 5 89979485 [T/C] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_T1916I exm466476 5 89979518 [T/C] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_T1927M exm466477 5 89979522 [C/G] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_S1928R exm466478 5 89979523 [T/G] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_A1929S exm466481 5 89979568 [A/G] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_D1944N exm466482 5 89979589 [A/G] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_V1951I exm466485 5 89979691 [A/G] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_N1985D exm466486 5 89979698 [T/C] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_P1987L exm466487 5 89979750 [T/G] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_L2004F exm466489 5 89979824 [T/C] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_P2029L exm466490 5 89979833 [T/C] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_A2032V exm466491 5 89979871 [A/G] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_G2045R exm466495 5 89979980 [G/C] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_S2081C exm466498 5 89981611 [T/C] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_R2097C exm466500 5 89981639 [T/C] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_A2106V exm466502 5 89981642 [A/C] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_Q2107P exm2106030 5 89981660 [A/G] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_N2113S exm466506 5 89981705 [A/G] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_R2128Q exm2106032 5 89985746 [A/G] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_I2187V exm466516 5 89985795 [T/C] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_V2203A exm466520 5 89985882 [A/G] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_Y2232C exm466525 5 89986832 [A/G] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_A2309T exm466528 5 89986845 [T/C] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_P2313L exm466531 5 89988464 [T/A] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_I2332F exm466534 5 89988504 [A/G] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_N2345S exm466537 5 89988549 [A/G] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_R2360H exm466548 5 89989802 [A/G] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_Y2410C exm466549 5 89989855 [A/G] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_N2428D exm466556 5 89990041 [A/G] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_A2490T exm466563 5 89990149 [A/G] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_I2526V exm466564 5 89990155 [T/C] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_P2528S exm466567 5 89990324 [A/G] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_N2584S exm466569 5 89990386 [T/G] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_L2605V exm466570 5 89990440 [A/G] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_E2623K exm466571 5 89990447 [A/G] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_R2625H exm466583 5 89999487 [A/G] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_I2721V exm466585 5 89999530 [A/G] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_N2735S exm466589 5 90000210 [T/C] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_S2764L exm466590 5 90000214 [T/G] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_L2765F exm466595 5 90001226 [T/C] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_P2799L exm466597 5 90001237 [A/G] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_A2803T exm466599 5 90001299 [T/G] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_H2823Q exm466602 5 90002053 [A/G] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_I2858V exm466604 5 90002132 [T/C] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_V2884A exm466605 5 90002172 [A/C] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_E2897D exm466609 5 90004717 [T/C] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_P2939S exm466613 5 90006837 [A/G] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_N2955S exm466614 5 90006849 [A/G] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_R2959Q exm466616 5 90007092 [G/C] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_Q2999E exm466619 5 90008144 [A/G] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_N3028S exm466624 5 90012379 [A/G] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_V3094I exm466630 5 90012539 [A/G] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_R3147Q exm466640 5 90016024 [A/T] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_S3203T exm466642 5 90016763 [T/C] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_I3212T exm466645 5 90016778 [T/C] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_A3217V exm466650 5 90016871 [A/G] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_G3248D exm466663 5 90021438 [A/G] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_I3376V exm466671 5 90024735 [A/G] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_E3471K exm2106086 5 90025471 [G/C] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Nonsense_S3480X exm2257391 5 90025559 [T/C] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Synonymous_S3509S exm466680 5 90040890 [T/C] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_M3526T exm466682 5 90040920 [A/G] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_R3536H exm466683 5 90041010 [T/C] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_I3566T exm2106091 5 90041081 [A/T] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_S3590C exm466687 5 90041434 [G/C] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_G3599A exm466691 5 90041574 [T/C] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_S3646P exm466692 5 90041590 [A/G] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_Y3651C exm466699 5 90049470 [T/C] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_V3734A exm466707 5 90049607 [T/C] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_R3780C exm466723 5 90052289 [A/G] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_E3867K exm466728 5 90052799 [A/G] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_A3921T exm466732 5 90055259 [A/G] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_D3992N exm2242834 5 90059149 [A/G] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_D4050N exm466736 5 90059182 [T/G] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_V4061F exm466738 5 90059209 [A/G] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_V4070I exm466739 5 90059213 [A/G] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_R4071Q exm466740 5 90059270 [A/C] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_T4090N exm466743 5 90070066 [T/C] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_R4117C exm466744 5 90070067 [A/G] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_R4117H exm466760 5 90073786 [A/G] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_V4198M exm466762 5 90074281 [A/G] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_Y4235C exm466764 5 90074362 [A/G] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_S4262N exm466766 5 90074395 [A/G] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_H4273R exm2242836 5 90074708 [T/G] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_S4292R exm466773 5 90074869 [T/C] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_P4346L exm466785 5 90079067 [A/G] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_H4453R exm466786 5 90079091 [A/G] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_H4461R exm466812 5 90085630 [T/C] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_F4669L exm466814 5 90085654 [T/C] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_F4677L exm466817 5 90086853 [C/G] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_S4736C exm466820 5 90086955 [A/G] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_R4770H exm466821 5 90086966 [T/C] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_L4774F exm466828 5 90087078 [A/C] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_P4811Q exm466833 5 90087161 [C/G] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_Q4839E exm466838 5 90098670 [T/C] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_P4878S exm466842 5 90101200 [A/G] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_A4921T exm466848 5 90103487 [T/C] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_W4969R exm466851 5 90103525 [C/G] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_Q4981H exm466854 5 90103541 [A/G] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_G4987R exm2106156 5 90103554 [A/G] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_R4991Q exm2106158 5 90106190 [T/C] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_I5038T exm466863 5 90106246 [T/C] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_P5057S exm466864 5 90106254 [T/G] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_Q5059H exm466870 5 90106471 [A/G] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_G5132R exm466875 5 90106685 [A/G] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_E5203G exm466893 5 90107108 [A/G] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_E5344G exm466906 5 90119324 [A/G] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_V5427M exm466908 5 90119330 [A/G] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_E5429K exm466909 5 90119357 [A/G] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_T5438A exm466917 5 90124864 [A/G] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_S5491N exm466921 5 90136423 [A/G] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_R5547H exm466923 5 90136482 [A/G] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_V5567I exm466926 5 90136624 [T/C] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_T5614I exm466928 5 90136732 [C/G] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_T5650S exm2106183 5 90136782 [A/G] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_M5667V exm2275805 5 90144542 [A/G] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_R5703H exm466943 5 90149952 [A/G] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_Y5843C exm466945 5 90151589 [A/G] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_V5876I exm466946 5 90151620 [A/C] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_A5886D exm466950 5 90159576 [A/C] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_L5920I exm2106199 5 90261271 [A/G] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_A5966T exm466962 5 90281188 [T/A] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_M6001L exm466963 5 90281227 [T/C] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_F6014L exm2257392 5 90281331 [T/C] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Synonymous_H6048H exm-rs1967256 5 90299223 [G/C] NR_003149,NM_032119 GPR98,GPR98 Silent,Silent exm-rs16869392 5 90350998 [T/C] NR_003149,NM_032119 GPR98,GPR98 Silent,Silent exm466970 5 90398074 [A/G] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_V6117M exm-rs10514345 5 90424279 [T/C] NR_003149,NM_032119 GPR98,GPR98 Silent,Silent exm466973 5 90445884 [A/G] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_N6157S exm466974 5 90445889 [A/G] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_M6159V exm466976 5 90445962 [T/C] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_T6183M exm466986 5 90449159 [T/G] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_L6249R exm466988 5 90449167 [A/G] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Missense_D6252N exm466989 5 90459600 [T/G] NR_003149,NM_032119 GPR98,GPR98 EXON Silent,Synonymous_G6268G exm2266100 5 90566498 [A/G] exm466999 5 90667244 [T/A] NM_020801 ARRDC3 EXON Missense_D406E exm467003 5 90669501 [T/C] NM_020801 ARRDC3 EXON Synonymous_E396E exm467005 5 90670000 [A/C] NM_020801 ARRDC3 EXON Missense_S322A exm467020 5 90672454 [T/C] NM_020801 ARRDC3 EXON Missense_N165S exm2106259 5 90674536 [T/C] NM_020801 ARRDC3 EXON Missense_A113T exm2106260 5 90678791 [T/C] NM_020801,NR_027435 ARRDC3,ARRDC3-AS1 EXON Missense_G40E,Silent exm-rs933688 5 90762748 [A/G] exm2257395 5 91093966 [A/G] exm2270223 5 91275313 [T/C] exm2265975 5 91438322 [A/G] exm2270224 5 91840637 [T/G] exm-rs1422169 5 92082860 [T/C] exm2270087 5 92092604 [T/C] exm-rs7714485 5 92515301 [A/C] exm-rs4869419 5 92567539 [A/G] exm2266101 5 92673947 [A/G] exm467041 5 92920966 [G/C] NM_005654 NR2F1 EXON Missense_Q79H exm467089 5 93076732 [C/G] NM_001163418,NR_028080,NM_032042,NM_001163417,NM_153216 FAM172A,FAM172A,FAM172A,FAM172A,POU5F2 EXON Silent,Silent,Silent,Silent,Missense_L180V exm467124 5 93159946 [T/C] NM_001163418,NR_028080,NM_032042,NM_001163417 FAM172A,FAM172A,FAM172A,FAM172A EXON Missense_I162V,Silent,Missense_I272V,Missense_I226V exm467129 5 93217286 [T/C] NM_001163418,NR_028080,NM_032042,NM_001163417 FAM172A,FAM172A,FAM172A,FAM172A EXON Missense_K116E,Silent,Missense_K226E,Missense_K180E exm467137 5 93217358 [T/A] NM_001163418,NR_028080,NM_032042,NM_001163417 FAM172A,FAM172A,FAM172A,FAM172A EXON Missense_N92Y,Silent,Missense_N202Y,Missense_N156Y exm467142 5 93294657 [T/C] NM_001163418,NR_028080,NM_032042,NM_001163417 FAM172A,FAM172A,FAM172A,FAM172A EXON Silent,Silent,Missense_S131N,Missense_S85N exm467161 5 93489746 [T/C] NM_001145678 KIAA0825 EXON Missense_N1265S exm-rs17376456 5 93557702 [A/G] NM_001145678 KIAA0825 Silent exm2257400 5 93615466 [A/G] NM_001145678 KIAA0825 Silent exm467167 5 93722004 [T/C] NM_001145678 KIAA0825 EXON Missense_A1188T exm467168 5 93722036 [A/G] NM_001145678 KIAA0825 EXON Missense_T1177M exm467181 5 93732089 [T/A] NM_001145678 KIAA0825 EXON Missense_F1005I exm467182 5 93732140 [A/G] NM_001145678 KIAA0825 EXON Missense_P988S exm467189 5 93753017 [T/C] NM_001145678 KIAA0825 EXON Missense_A851T exm467193 5 93788685 [T/C] NM_001145678 KIAA0825 EXON Missense_H779R exm467197 5 93800617 [T/A] NM_001145678 KIAA0825 EXON Missense_Y674N exm467206 5 93807265 [A/G] NM_001145678 KIAA0825 EXON Missense_P543S exm2261995 5 93849756 [A/G] NM_001145678 KIAA0825 Silent exm467223 5 93855954 [A/C] NM_001145678,NM_173665 KIAA0825,KIAA0825 EXON Missense_L323F,Missense_L323F exm467231 5 93856145 [T/C] NM_001145678,NM_173665 KIAA0825,KIAA0825 EXON Missense_N260D,Missense_N260D exm467234 5 93856225 [T/C] NM_001145678,NM_173665 KIAA0825,KIAA0825 EXON Missense_R233K,Missense_R233K exm467248 5 93859799 [T/C] NM_001145678,NM_173665 KIAA0825,KIAA0825 EXON Missense_K46E,Missense_K46E exm2257402 5 93918392 [A/G] NM_001145678,NM_173665 KIAA0825,KIAA0825 Silent,Silent exm467264 5 93966249 [A/G] NM_032290 ANKRD32 EXON Missense_K78E exm467275 5 93985301 [A/G] NM_032290 ANKRD32 EXON Missense_Q246R exm467278 5 93987532 [A/C] NM_032290 ANKRD32 EXON Missense_S288R exm467289 5 94001654 [T/C] NM_032290 ANKRD32 EXON Missense_S486L exm467300 5 94022416 [A/G] NM_032290 ANKRD32 EXON Missense_Q705R exm467302 5 94024235 [C/G] NM_032290 ANKRD32 EXON Missense_G716R exm467311 5 94027270 [A/G] NM_032290 ANKRD32 EXON Synonymous_G807G exm467315 5 94027356 [T/G] NM_032290 ANKRD32 EXON Missense_V836G exm467333 5 94030818 [T/G] NM_032290 ANKRD32 EXON Missense_C993F exm467347 5 94044279 [A/G] NM_001002796,NM_024717 MCTP1,MCTP1 EXON Missense_Y735H,Missense_Y956H exm-rs17418283 5 94154588 [T/C] NM_001002796,NM_024717 MCTP1,MCTP1 Silent,Silent exm467367 5 94204093 [T/A] NM_001002796,NM_024717 MCTP1,MCTP1 EXON Missense_Y573F,Missense_Y794F exm467389 5 94230358 [T/C] NM_001002796,NM_024717 MCTP1,MCTP1 EXON Missense_R391K,Missense_R612K exm467391 5 94230376 [T/C] NM_001002796,NM_024717 MCTP1,MCTP1 EXON Missense_R385Q,Missense_R606Q exm467395 5 94230426 [T/C] NM_001002796,NM_024717 MCTP1,MCTP1 EXON Synonymous_T368T,Synonymous_T589T exm2257403 5 94230426 [T/C] NM_001002796,NM_024717 MCTP1,MCTP1 EXON Synonymous_T368T,Synonymous_T589T exm467415 5 94253638 [T/C] NM_001002796,NM_024717 MCTP1,MCTP1 EXON Missense_R217K,Missense_R438K exm467416 5 94253639 [T/C] NM_001002796,NM_024717 MCTP1,MCTP1 EXON Missense_R217G,Missense_R438G exm467418 5 94253672 [T/C] NM_001002796,NM_024717 MCTP1,MCTP1 EXON Missense_G206S,Missense_G427S exm467423 5 94259704 [A/T] NM_001002796,NM_024717 MCTP1,MCTP1 EXON Missense_V191D,Missense_V412D exm467439 5 94353117 [A/G] NM_001002796,NM_024717 MCTP1,MCTP1 EXON Synonymous_D43D,Synonymous_D264D exm2242851 5 94353137 [G/C] NM_001002796,NM_024717 MCTP1,MCTP1 EXON Missense_P37A,Missense_P258A exm2270090 5 94478881 [T/C] NM_024717 MCTP1 Silent exm467452 5 94619786 [A/G] NM_024717 MCTP1 EXON Missense_S165F exm2265978 5 94718427 [A/G] exm2242852 5 94727173 [A/G] NM_152548 FAM81B EXON Missense_K27R exm467480 5 94731830 [A/G] NM_152548 FAM81B EXON Missense_A82T exm2242853 5 94731864 [T/C] NM_152548 FAM81B EXON Missense_V93A exm467485 5 94749700 [A/G] NM_152548 FAM81B EXON Missense_E115K exm467495 5 94749755 [T/C] NM_152548 FAM81B EXON Missense_F133S exm467496 5 94749757 [T/C] NM_152548 FAM81B EXON Missense_R134C exm467498 5 94749787 [T/C] NM_152548 FAM81B EXON Nonsense_Q144X exm467501 5 94749818 [T/C] NM_152548 FAM81B EXON Missense_S154L exm467505 5 94756010 [T/C] NM_152548 FAM81B EXON Missense_A187V exm467506 5 94756012 [T/C] NM_152548 FAM81B EXON Nonsense_R188X exm2242854 5 94756046 [T/G] NM_152548 FAM81B EXON Missense_V199G exm467511 5 94756090 [T/C] NM_152548 FAM81B EXON Nonsense_R214X exm467513 5 94764366 [A/G] NM_152548 FAM81B EXON Missense_R239Q exm467520 5 94772540 [T/C] NM_152548 FAM81B EXON Missense_P275S exm467521 5 94772572 [C/G] NM_152548 FAM81B EXON Missense_Q285H exm467522 5 94772576 [A/G] NM_152548 FAM81B EXON Missense_D287N exm2270225 5 94778775 [T/C] NM_152548 FAM81B Silent exm467528 5 94782320 [A/G] NM_152548 FAM81B EXON Nonsense_W316X exm467532 5 94784007 [T/C] NM_152548 FAM81B EXON Missense_L355P exm467535 5 94784078 [T/C] NM_152548 FAM81B EXON Missense_H379Y exm467536 5 94784082 [T/C] NM_152548 FAM81B EXON Missense_M380T exm2106488 5 94785958 [A/G] NM_152548 FAM81B EXON Missense_R444H exm467542 5 94785984 [T/C] NM_152548 FAM81B EXON Missense_X453Q exm467562 5 94814011 [A/C] NM_014639 TTC37 EXON Missense_A1450S exm467565 5 94814038 [A/G] NM_014639 TTC37 EXON Missense_S1441P exm467566 5 94814131 [A/G] NM_014639 TTC37 EXON Missense_Y1410H exm467571 5 94818202 [T/C] NM_014639 TTC37 EXON Missense_N1396S exm2106505 5 94818236 [T/C] NM_014639 TTC37 EXON Missense_V1385I exm467577 5 94820477 [T/C] NM_014639 TTC37 EXON Missense_G1335D exm2106507 5 94820517 [C/G] NM_014639 TTC37 EXON Missense_Q1322E exm467585 5 94826655 [A/C] NM_014639 TTC37 EXON Missense_R1296S exm467586 5 94826668 [G/C] NM_014639 TTC37 EXON Missense_T1292S exm467591 5 94826735 [G/C] NM_014639 TTC37 EXON Missense_P1270A exm467596 5 94830446 [A/C] NM_014639 TTC37 EXON Missense_A1248S exm467602 5 94833130 [T/C] NM_014639 TTC37 EXON Missense_R1209Q exm467603 5 94833131 [A/G] NM_014639 TTC37 EXON Nonsense_R1209X exm467618 5 94838684 [T/C] NM_014639 TTC37 EXON Missense_V1081I exm467627 5 94842662 [A/T] NM_014639 TTC37 EXON Missense_I1023K exm467644 5 94850559 [T/A] NM_014639 TTC37 EXON Missense_Q901H exm467648 5 94852092 [A/C] NM_014639 TTC37 EXON Missense_L867V exm2106541 5 94852680 [A/C] NM_014639 TTC37 EXON Missense_H792Q exm467661 5 94852739 [A/T] NM_014639 TTC37 EXON Missense_M773L exm467662 5 94852753 [T/C] NM_014639 TTC37 EXON Missense_R768H exm467665 5 94852866 [A/G] NM_014639 TTC37 EXON Missense_L759F exm467666 5 94852916 [A/G] NM_014639 TTC37 EXON Missense_V742A exm467667 5 94853016 [A/G] NM_014639 TTC37 EXON Missense_H709Y exm467673 5 94856457 [T/C] NM_014639 TTC37 EXON Missense_V693I exm2106548 5 94857860 [T/C] NM_014639 TTC37 EXON Missense_K637E exm467684 5 94858004 [T/C] NM_014639 TTC37 EXON Missense_A589T exm2106556 5 94859478 [A/C] NM_014639 TTC37 EXON Missense_D505Y exm467698 5 94860194 [G/C] NM_014639 TTC37 EXON Missense_T476R exm467702 5 94861118 [G/C] NM_014639 TTC37 EXON Missense_L437V exm467713 5 94863824 [T/C] NM_014639 TTC37 EXON Missense_G343S exm467716 5 94864735 [A/G] NM_014639 TTC37 EXON Missense_P322S exm467718 5 94865825 [T/C] NM_014639 TTC37 EXON Missense_K287R exm2106575 5 94865856 [T/C] NM_014639 TTC37 EXON Missense_G277S exm2106579 5 94872799 [A/G] NM_014639 TTC37 EXON Missense_P197L exm467728 5 94876527 [T/C] NM_014639 TTC37 EXON Missense_R137Q exm467737 5 94878992 [T/C] NM_014639 TTC37 EXON Missense_V44I exm467746 5 94891059 [G/C] NM_198150 ARSK EXON Missense_R26P exm467755 5 94901753 [A/G] NM_198150 ARSK EXON Missense_I60V exm2106592 5 94901789 [T/A] NM_198150 ARSK EXON Missense_N72Y exm467766 5 94903692 [A/C] NM_198150 ARSK EXON Missense_H119N exm467784 5 94918902 [A/G] NM_198150 ARSK EXON Synonymous_K233K exm467796 5 94927215 [A/G] NM_198150 ARSK EXON Missense_S328G exm467797 5 94927243 [T/C] NM_198150 ARSK EXON Missense_P337L exm467800 5 94936596 [T/C] NM_198150 ARSK EXON Missense_L381S exm467808 5 94936775 [C/G] NM_198150 ARSK EXON Missense_D441H exm467809 5 94938950 [T/C] NM_198150 ARSK EXON Missense_S444L exm467815 5 94939045 [C/G] NM_198150 ARSK EXON Missense_V476L exm467818 5 94939089 [T/G] NM_198150 ARSK EXON Missense_K490N exm467823 5 94939193 [A/G] NM_198150 ARSK EXON Missense_Q525R exm467830 5 94956181 [T/C] NM_199243 GPR150 EXON Missense_C68R exm467841 5 94956634 [A/G] NM_199243 GPR150 EXON Missense_G219R exm467853 5 94957045 [T/C] NM_199243 GPR150 EXON Nonsense_Q356X exm467864 5 94988022 [T/C] NM_001131066,NM_173362,NM_001131065 RFESD,RFESD,RFESD EXON Missense_T16I,Silent,Missense_T16I exm467866 5 94988888 [T/C] NM_001131066,NM_173362,NM_001131065 RFESD,RFESD,RFESD EXON Missense_A43V,Silent,Missense_A43V exm467871 5 94989940 [T/C] NM_001131066,NM_173362,NM_001131065 RFESD,RFESD,RFESD EXON Missense_H112Y,Missense_H59Y,Missense_H112Y exm467872 5 94989941 [A/G] NM_001131066,NM_173362,NM_001131065 RFESD,RFESD,RFESD Silent,Silent,Silent exm467875 5 94990067 [T/C] NM_001131066,NM_173362,NM_001131065 RFESD,RFESD,RFESD EXON Missense_I122T,Missense_I69T,Missense_I122T exm2106622 5 94991766 [T/C] NM_001131066,NM_173362,NM_001131065 RFESD,RFESD,RFESD EXON Missense_P129L,Missense_P76L,Missense_P129L exm467877 5 94991781 [G/C] NM_001131066,NM_173362,NM_001131065 RFESD,RFESD,RFESD EXON Missense_P134R,Missense_P81R,Missense_P134R exm2106623 5 94991839 [A/C] NM_001131066,NM_173362,NM_001131065 RFESD,RFESD,RFESD EXON Missense_N153K,Missense_N100K,Missense_N153K exm467895 5 94994467 [T/C] NM_031952 SPATA9 EXON Missense_K209E exm467897 5 94994512 [A/G] NM_031952 SPATA9 EXON Missense_S194P exm467900 5 94994559 [T/G] NM_031952 SPATA9 EXON Missense_S178Y exm-IND5-95025491 5 94999736 [I/D] NM_031952 SPATA9 EXON exm467904 5 95011145 [T/C] NM_031952 SPATA9 EXON Missense_A117T exm467905 5 95011157 [T/C] NM_031952 SPATA9 EXON Missense_R113G exm467906 5 95011166 [A/G] NM_031952 SPATA9 EXON Missense_R110C exm467908 5 95011189 [A/G] NM_031952 SPATA9 EXON Missense_L102S exm467910 5 95011279 [T/C] NM_031952 SPATA9 EXON Missense_R72Q exm467911 5 95011280 [A/G] NM_031952 SPATA9 EXON Nonsense_R72X exm-rs153916 5 95036700 [T/C] exm2242868 5 95067622 [G/C] NM_014899 RHOBTB3 EXON Missense_P21R exm467932 5 95072668 [A/G] NM_014899 RHOBTB3 EXON Missense_V102I exm467933 5 95072720 [T/C] NM_014899 RHOBTB3 EXON Missense_I119T exm467935 5 95084052 [A/C] NM_014899 RHOBTB3 EXON Missense_T144K exm467938 5 95084079 [A/G] NM_014899 RHOBTB3 EXON Missense_G153E exm467939 5 95084081 [A/C] NM_014899 RHOBTB3 EXON Missense_S154R exm467949 5 95091201 [A/G] NM_014899 RHOBTB3 EXON Missense_N262D exm467950 5 95091206 [A/G] NM_014899 RHOBTB3 EXON Synonymous_L263L exm2257407 5 95091206 [A/G] NM_014899 RHOBTB3 EXON Synonymous_L263L exm2106654 5 95091352 [T/C] NM_014899 RHOBTB3 EXON Missense_T312I exm467959 5 95099264 [A/T] NM_014899 RHOBTB3 EXON Missense_D367E exm467964 5 95115959 [T/C] NM_014899 RHOBTB3 EXON Missense_T429M exm2106671 5 95128819 [G/C] NM_014899 RHOBTB3 EXON Missense_Q593E exm467988 5 95152324 [A/G] NM_001243658,NM_002064,NM_001243659,NM_001118890 GLRX,GLRX,GLRX,GLRX EXON Nonsense_R72X,Nonsense_R72X,Nonsense_R72X,Nonsense_R72X exm2106692 5 95233949 [T/C] NM_012081 ELL2 EXON Missense_S507N exm468033 5 95234151 [C/G] NM_012081 ELL2 EXON Missense_P440A exm2265979 5 95234350 [A/G] NM_012081 ELL2 EXON Synonymous_P373P exm468047 5 95234485 [T/A] NM_012081 ELL2 EXON Missense_D328E exm468050 5 95236414 [T/C] NM_012081 ELL2 EXON Missense_A313T exm468058 5 95236459 [T/C] NM_012081 ELL2 EXON Missense_A298T exm468059 5 95236473 [A/G] NM_012081 ELL2 EXON Missense_P293L exm468060 5 95236474 [T/G] NM_012081 ELL2 EXON Missense_P293T exm468066 5 95242379 [T/C] NM_012081 ELL2 EXON Missense_S197G exm468081 5 95278729 [T/C] NM_012081 ELL2 EXON Missense_I58V exm2261998 5 95357625 [A/G] exm2257409 5 95514956 [A/G] exm-rs4869272 5 95539448 [T/C] exm-rs13179048 5 95542726 [A/C] exm468098 5 95728710 [T/G] NM_000439,NM_001177875,NM_001177876 PCSK1,PCSK1,PCSK1 EXON Missense_N753H,Missense_N706H,Missense_N443H exm468104 5 95728863 [T/C] NM_000439,NM_001177875,NM_001177876 PCSK1,PCSK1,PCSK1 EXON Missense_E702K,Missense_E655K,Missense_E392K exm468110 5 95728974 [C/G] NM_000439,NM_001177875,NM_001177876 PCSK1,PCSK1,PCSK1 EXON Missense_Q665E,Missense_Q618E,Missense_Q355E exm468114 5 95729049 [T/C] NM_000439,NM_001177875,NM_001177876 PCSK1,PCSK1,PCSK1 EXON Missense_T640A,Missense_T593A,Missense_T330A exm468128 5 95734621 [T/C] NM_000439,NM_001177875,NM_001177876 PCSK1,PCSK1,PCSK1 EXON Missense_R517Q,Missense_R470Q,Missense_R207Q exm468131 5 95735700 [T/C] NM_000439,NM_001177875,NM_001177876 PCSK1,PCSK1,PCSK1 EXON Missense_E463K,Missense_E416K,Missense_E153K exm2257410 5 95743944 [A/G] NM_000439,NM_001177875,NM_001177876 PCSK1,PCSK1,PCSK1 EXON Synonymous_A393A,Synonymous_A346A,Synonymous_A83A exm468152 5 95746663 [T/C] NM_000439,NM_001177875,NM_001177876 PCSK1,PCSK1,PCSK1 EXON Missense_V304I,Missense_V257I,Silent exm468154 5 95748035 [T/C] NM_000439,NM_001177875,NM_001177876 PCSK1,PCSK1,PCSK1 EXON Missense_Y290C,Missense_Y243C,Missense_Y51C exm468155 5 95748068 [G/C] NM_000439,NM_001177875,NM_001177876 PCSK1,PCSK1,PCSK1 EXON Missense_G279A,Missense_G232A,Missense_G40A exm468164 5 95751785 [T/C] NM_000439,NM_001177875 PCSK1,PCSK1 EXON Missense_N221D,Missense_N174D exm2106733 5 95751796 [A/G] NM_000439,NM_001177875 PCSK1,PCSK1 EXON Missense_A217V,Missense_A170V exm468170 5 95759019 [A/G] NM_000439,NM_001177875 PCSK1,PCSK1 EXON Missense_Y181H,Missense_Y134H exm468171 5 95759036 [A/G] NM_000439,NM_001177875 PCSK1,PCSK1 EXON Missense_T175M,Missense_T128M exm468172 5 95759090 [A/G] NM_000439,NM_001177875 PCSK1,PCSK1 EXON Missense_T157M,Missense_T110M exm468178 5 95761545 [T/C] NM_000439,NM_001177875 PCSK1,PCSK1 EXON Missense_M125I,Missense_M78I exm2242874 5 95764963 [T/C] NM_000439,NM_001177875 PCSK1,PCSK1 EXON Missense_R80Q,Missense_R33Q exm468190 5 95768682 [A/G] NM_000439 PCSK1 EXON Missense_L22P exm2265981 5 96028860 [A/G] NM_001190442,NM_001042440 CAST,CAST Silent,Silent exm468196 5 96031558 [A/G] NM_001190442,NM_001042440 CAST,CAST EXON Silent,Missense_G53S exm468201 5 96058392 [A/C] NM_001190442,NM_001042440,NM_173060 CAST,CAST,CAST EXON Missense_T4K,Missense_T87K,Missense_T4K exm468213 5 96064890 [A/G] NM_001190442,NM_001042440,NM_173060 CAST,CAST,CAST EXON Missense_G55R,Silent,Missense_G33R exm468214 5 96064908 [A/G] NM_001190442,NM_001042440,NM_173060 CAST,CAST,CAST EXON Missense_T61A,Silent,Missense_T39A exm468216 5 96065359 [T/A] NM_001190442,NM_001042440,NM_173060 CAST,CAST,CAST EXON Missense_D77V,Missense_D119V,Missense_D55V exm468219 5 96066502 [A/G] NM_001190442,NM_001042440,NM_173060 CAST,CAST,CAST EXON Missense_I107V,Missense_I149V,Missense_I85V exm468222 5 96071917 [A/C] NM_001190442,NM_001042440,NM_173060 CAST,CAST,CAST EXON Missense_E141D,Missense_E183D,Missense_E119D exm468227 5 96075748 [A/G] NM_001190442,NM_001042440,NM_173060 CAST,CAST,CAST EXON Missense_M186V,Missense_M228V,Missense_M164V exm468231 5 96076456 [A/G] NM_001190442,NM_001042440,NM_173060 CAST,CAST,CAST EXON Silent,Missense_E255G,Missense_E191G exm468232 5 96076486 [T/C] NM_001190442,NM_001042440,NM_173060 CAST,CAST,CAST EXON Silent,Missense_S265L,Missense_S201L exm468233 5 96076487 [A/G] NM_001190442,NM_001042440,NM_173060 CAST,CAST,CAST EXON Silent,Synonymous_S265S,Synonymous_S201S exm468234 5 96076976 [A/C] NM_001190442,NM_001042440,NM_173060 CAST,CAST,CAST EXON Missense_I213L,Missense_I268L,Missense_I204L exm468242 5 96077037 [G/C] NM_001190442,NM_001042440,NM_173060 CAST,CAST,CAST EXON Missense_A233G,Missense_A288G,Missense_A224G exm468255 5 96078393 [T/C] NM_001190442,NM_001042440,NM_173060 CAST,CAST,CAST EXON Missense_S282L,Missense_S337L,Missense_S273L exm468262 5 96078438 [A/G] NM_001190442,NM_001042440,NM_173060 CAST,CAST,CAST EXON Missense_R297H,Missense_R352H,Missense_R288H exm468263 5 96078456 [A/G] NM_001190442,NM_001042440,NM_173060 CAST,CAST,CAST EXON Missense_D303G,Missense_D358G,Missense_D294G exm468280 5 96082052 [C/G] NM_001190442,NM_001042440,NM_173060,NR_033798 CAST,CAST,CAST,CAST EXON Missense_A307P,Missense_A362P,Missense_A298P,Silent exm468282 5 96082087 [A/T] NM_001190442,NM_001042440,NM_173060,NR_033798 CAST,CAST,CAST,CAST EXON Missense_D318E,Missense_D373E,Missense_D309E,Silent exm2242878 5 96082125 [T/C] NM_001190442,NM_001042440,NM_173060,NR_033798 CAST,CAST,CAST,CAST EXON Missense_A331V,Missense_A386V,Missense_A322V,Silent exm468284 5 96082128 [T/C] NM_001190442,NM_001042440,NM_173060,NR_033798 CAST,CAST,CAST,CAST EXON Missense_T332M,Missense_T387M,Missense_T323M,Silent exm468285 5 96082129 [A/G] NM_001190442,NM_001042440,NM_173060,NR_033798 CAST,CAST,CAST,CAST EXON Synonymous_T332T,Synonymous_T387T,Synonymous_T323T,Silent exm468289 5 96084244 [T/C] NM_001190442,NM_001042440,NM_173060,NR_033798 CAST,CAST,CAST,CAST EXON Missense_I356T,Missense_I411T,Missense_I347T,Silent exm468295 5 96086334 [C/G] NM_001190442,NM_001042440,NM_173060,NR_033798 CAST,CAST,CAST,CAST EXON Missense_C395S,Missense_C450S,Missense_C386S,Silent exm468301 5 96089836 [A/G] NM_001190442,NM_001042440,NM_173060,NR_033798 CAST,CAST,CAST,CAST EXON Missense_D437N,Missense_D492N,Missense_D428N,Silent exm468304 5 96090383 [T/C] NM_001190442,NM_001042440,NM_173060,NR_033798 CAST,CAST,CAST,CAST EXON Missense_R454C,Missense_R509C,Missense_R445C,Silent exm468305 5 96090384 [A/G] NM_001190442,NM_001042440,NM_173060,NR_033798 CAST,CAST,CAST,CAST EXON Missense_R454H,Missense_R509H,Missense_R445H,Silent exm468318 5 96097979 [A/G] NM_001190442,NM_001042440,NM_173060,NR_033798,NM_016442 CAST,CAST,CAST,CAST,ERAP1 EXON Missense_K516R,Missense_K571R,Missense_K507R,Silent,Silent exm468320 5 96098003 [T/C] NM_001190442,NM_001042440,NM_173060,NR_033798,NM_016442 CAST,CAST,CAST,CAST,ERAP1 EXON Missense_A524V,Missense_A579V,Missense_A515V,Silent,Silent exm468322 5 96098066 [A/G] NM_001190442,NM_001042440,NM_173060,NR_033798,NM_016442 CAST,CAST,CAST,CAST,ERAP1 EXON Missense_R545H,Missense_R600H,Missense_R536H,Silent,Silent exm468323 5 96098075 [T/C] NM_001190442,NM_001042440,NM_173060,NR_033798,NM_016442 CAST,CAST,CAST,CAST,ERAP1 EXON Missense_S548L,Missense_S603L,Missense_S539L,Silent,Silent exm2106803 5 96100929 [A/G] NM_001190442,NM_001042440,NM_173060,NR_033798,NM_016442 CAST,CAST,CAST,CAST,ERAP1 EXON Missense_S550N,Missense_S605N,Missense_S541N,Silent,Silent exm-rs27524 5 96101944 [A/G] NM_001190442,NM_001042440,NM_173060,NR_033798,NM_016442 CAST,CAST,CAST,CAST,ERAP1 Silent,Silent,Silent,Silent,Silent exm468346 5 96103628 [A/T] NM_001190442,NM_001042440,NM_173060,NR_033798,NM_016442 CAST,CAST,CAST,CAST,ERAP1 EXON Missense_Q635H,Missense_Q690H,Missense_Q626H,Silent,Silent exm2273409 5 96112083 [T/G] NM_016442,NM_001040458,NM_001198541 ERAP1,ERAP1,ERAP1 EXON Silent,Silent,Silent exm468363 5 96112107 [T/C] NM_016442,NM_001040458,NM_001198541 ERAP1,ERAP1,ERAP1 EXON Silent,Missense_R940H,Missense_R940H exm468366 5 96112168 [T/C] NM_016442,NM_001040458,NM_001198541 ERAP1,ERAP1,ERAP1 EXON Missense_G920S,Missense_G920S,Missense_G920S exm468368 5 96112182 [A/G] NM_016442,NM_001040458,NM_001198541 ERAP1,ERAP1,ERAP1 EXON Missense_I915T,Missense_I915T,Missense_I915T exm468383 5 96116799 [T/G] NM_016442,NM_001040458,NM_001198541 ERAP1,ERAP1,ERAP1 EXON Missense_Q851K,Missense_Q851K,Missense_Q851K exm468385 5 96116834 [A/G] NM_016442,NM_001040458,NM_001198541 ERAP1,ERAP1,ERAP1 EXON Missense_I839T,Missense_I839T,Missense_I839T exm468394 5 96117548 [T/C] NM_016442,NM_001040458,NM_001198541 ERAP1,ERAP1,ERAP1 EXON Missense_D766N,Missense_D766N,Missense_D766N exm468397 5 96118775 [G/C] NM_016442,NM_001040458,NM_001198541 ERAP1,ERAP1,ERAP1 EXON Missense_K755N,Missense_K755N,Missense_K755N exm468399 5 96118803 [T/C] NM_016442,NM_001040458,NM_001198541 ERAP1,ERAP1,ERAP1 EXON Missense_R746K,Missense_R746K,Missense_R746K exm468403 5 96118852 [C/G] NM_016442,NM_001040458,NM_001198541 ERAP1,ERAP1,ERAP1 EXON Missense_Q730E,Missense_Q730E,Missense_Q730E exm468404 5 96118866 [T/C] NM_016442,NM_001040458,NM_001198541 ERAP1,ERAP1,ERAP1 EXON Missense_R725Q,Missense_R725Q,Missense_R725Q exm468414 5 96119739 [C/G] NM_016442,NM_001040458,NM_001198541 ERAP1,ERAP1,ERAP1 EXON Nonsense_Y663X,Nonsense_Y663X,Nonsense_Y663X exm468420 5 96119785 [G/C] NM_016442,NM_001040458,NM_001198541 ERAP1,ERAP1,ERAP1 Silent,Silent,Silent exm468425 5 96121496 [T/C] NM_016442,NM_001040458,NM_001198541 ERAP1,ERAP1,ERAP1 EXON Missense_V647I,Missense_V647I,Missense_V647I exm468429 5 96121528 [T/C] NM_016442,NM_001040458,NM_001198541 ERAP1,ERAP1,ERAP1 EXON Missense_R636Q,Missense_R636Q,Missense_R636Q exm468432 5 96121583 [A/C] NM_016442,NM_001040458,NM_001198541 ERAP1,ERAP1,ERAP1 EXON Missense_D618Y,Missense_D618Y,Missense_D618Y exm468434 5 96121672 [A/C] NM_016442,NM_001040458,NM_001198541 ERAP1,ERAP1,ERAP1 EXON Missense_V588G,Missense_V588G,Missense_V588G exm468435 5 96121674 [A/G] NM_016442,NM_001040458,NM_001198541 ERAP1,ERAP1,ERAP1 EXON Synonymous_D587D,Synonymous_D587D,Synonymous_D587D exm468438 5 96122209 [T/C] NM_016442,NM_001040458,NM_001198541 ERAP1,ERAP1,ERAP1 EXON Missense_D575G,Missense_D575G,Missense_D575G exm468439 5 96122210 [T/C] NM_016442,NM_001040458,NM_001198541 ERAP1,ERAP1,ERAP1 EXON Missense_D575N,Missense_D575N,Missense_D575N exm468450 5 96124300 [T/C] NM_016442,NM_001040458,NM_001198541 ERAP1,ERAP1,ERAP1 EXON Missense_R538K,Missense_R538K,Missense_R538K exm468451 5 96124330 [T/C] NM_016442,NM_001040458,NM_001198541 ERAP1,ERAP1,ERAP1 EXON Missense_K528R,Missense_K528R,Missense_K528R exm468452 5 96124373 [T/C] NM_016442,NM_001040458,NM_001198541 ERAP1,ERAP1,ERAP1 EXON Missense_G514R,Missense_G514R,Missense_G514R exm468454 5 96126037 [T/C] NM_016442,NM_001040458,NM_001198541 ERAP1,ERAP1,ERAP1 EXON Missense_G496S,Missense_G496S,Missense_G496S exm468455 5 96126041 [T/C] NM_016442,NM_001040458,NM_001198541 ERAP1,ERAP1,ERAP1 EXON Missense_M494I,Missense_M494I,Missense_M494I exm468469 5 96127799 [T/C] NM_016442,NM_001040458,NM_001198541 ERAP1,ERAP1,ERAP1 EXON Missense_I429V,Missense_I429V,Missense_I429V exm-rs27434 5 96129512 [A/G] NM_016442,NM_001040458,NM_001198541 ERAP1,ERAP1,ERAP1 EXON Synonymous_A356A,Synonymous_A356A,Synonymous_A356A exm468484 5 96129535 [T/C] NM_016442,NM_001040458,NM_001198541 ERAP1,ERAP1,ERAP1 EXON Missense_M349V,Missense_M349V,Missense_M349V exm468485 5 96129543 [T/C] NM_016442,NM_001040458,NM_001198541 ERAP1,ERAP1,ERAP1 EXON Missense_G346D,Missense_G346D,Missense_G346D exm2106859 5 96130769 [T/G] NM_016442,NM_001040458,NM_001198541 ERAP1,ERAP1,ERAP1 EXON Missense_I299L,Missense_I299L,Missense_I299L exm468496 5 96130836 [T/C] NM_016442,NM_001040458,NM_001198541 ERAP1,ERAP1,ERAP1 EXON Missense_I276M,Missense_I276M,Missense_I276M exm468501 5 96132883 [T/C] NM_016442,NM_001040458,NM_001198541 ERAP1,ERAP1,ERAP1 EXON Missense_V265I,Missense_V265I,Missense_V265I exm468515 5 96136677 [G/C] NM_016442,NM_001040458,NM_001198541 ERAP1,ERAP1,ERAP1 EXON Missense_P184R,Missense_P184R,Missense_P184R exm468520 5 96139149 [T/C] NM_016442,NM_001040458,NM_001198541 ERAP1,ERAP1,ERAP1 EXON Missense_G161R,Missense_G161R,Missense_G161R exm468522 5 96139163 [G/C] NM_016442,NM_001040458,NM_001198541 ERAP1,ERAP1,ERAP1 EXON Missense_S156W,Missense_S156W,Missense_S156W exm468524 5 96139199 [A/G] NM_016442,NM_001040458,NM_001198541 ERAP1,ERAP1,ERAP1 EXON Missense_P144L,Missense_P144L,Missense_P144L exm468527 5 96139250 [C/G] NM_016442,NM_001040458,NM_001198541 ERAP1,ERAP1,ERAP1 EXON Missense_R127P,Missense_R127P,Missense_R127P exm468536 5 96139428 [A/G] NM_016442,NM_001040458,NM_001198541 ERAP1,ERAP1,ERAP1 EXON Missense_H68Y,Missense_H68Y,Missense_H68Y exm468540 5 96139464 [T/C] NM_016442,NM_001040458,NM_001198541 ERAP1,ERAP1,ERAP1 EXON Missense_E56K,Missense_E56K,Missense_E56K exm468552 5 96139595 [A/G] NM_016442,NM_001040458,NM_001198541 ERAP1,ERAP1,ERAP1 EXON Missense_T12I,Missense_T12I,Missense_T12I exm468564 5 96215503 [C/G] NM_022350,NM_001130140 ERAP2,ERAP2 EXON Missense_F38L,Missense_F38L exm468568 5 96215593 [C/G] NM_022350,NM_001130140 ERAP2,ERAP2 EXON Missense_R68S,Missense_R68S exm468575 5 96215729 [T/G] NM_022350,NM_001130140 ERAP2,ERAP2 EXON Missense_D114Y,Missense_D114Y exm468578 5 96215747 [C/G] NM_022350,NM_001130140 ERAP2,ERAP2 EXON Missense_A120P,Missense_A120P exm468590 5 96219534 [A/G] NM_022350,NM_001130140 ERAP2,ERAP2 EXON Missense_R205H,Missense_R205H exm468594 5 96219593 [T/C] NM_022350,NM_001130140 ERAP2,ERAP2 EXON Nonsense_R225X,Nonsense_R225X exm468597 5 96222360 [T/C] NM_022350,NM_001130140 ERAP2,ERAP2 EXON Missense_V239A,Missense_V239A exm468602 5 96222479 [T/G] NM_022350,NM_001130140 ERAP2,ERAP2 EXON Missense_S279A,Missense_S279A exm468607 5 96224904 [T/G] NM_022350,NM_001130140 ERAP2,ERAP2 EXON Missense_S289A,Missense_S289A exm468614 5 96228072 [T/C] NM_022350,NM_001130140 ERAP2,ERAP2 EXON Missense_T347M,Missense_T347M exm468623 5 96231000 [T/G] NM_022350,NM_001130140 ERAP2,ERAP2 EXON Missense_K392N,Missense_K392N exm468624 5 96231017 [A/G] NM_022350,NM_001130140 ERAP2,ERAP2 EXON Missense_Y398C,Missense_Y398C exm2106897 5 96231043 [A/G] NM_022350,NM_001130140 ERAP2,ERAP2 EXON Missense_T407A,Missense_T407A exm468625 5 96231056 [T/G] NM_022350,NM_001130140 ERAP2,ERAP2 EXON Missense_L411R,Missense_L411R exm468630 5 96232099 [A/G] NM_022350,NM_001130140 ERAP2,ERAP2 EXON Missense_C421Y,Missense_C421Y exm468650 5 96232502 [T/C] NM_022350,NM_001130140 ERAP2,ERAP2 EXON Nonsense_Q480X,Nonsense_Q480X exm468652 5 96232521 [A/G] NM_022350,NM_001130140 ERAP2,ERAP2 EXON Missense_S486N,Missense_S486N exm468669 5 96237330 [T/C] NM_022350,NM_001130140 ERAP2,ERAP2 EXON Missense_R565C,Missense_R565C exm468673 5 96237991 [A/T] NM_022350,NM_001130140 ERAP2,ERAP2 EXON Missense_I588F,Missense_I588F exm468678 5 96239153 [A/G] NM_022350,NM_001130140 ERAP2,ERAP2 EXON Missense_H634R,Missense_H634R exm468680 5 96239234 [T/G] NM_022350,NM_001130140 ERAP2,ERAP2 EXON Missense_G661V,Missense_G661V exm468682 5 96239258 [T/A] NM_022350,NM_001130140 ERAP2,ERAP2 EXON Missense_L669Q,Missense_L669Q exm-rs2549794 5 96244549 [T/C] NM_022350,NM_001130140 ERAP2,ERAP2 Silent,Silent exm468688 5 96244697 [T/A] NM_022350,NM_001130140 ERAP2,ERAP2 EXON Missense_D682V,Missense_D682V exm468698 5 96245365 [T/C] NM_022350,NM_001130140 ERAP2,ERAP2 EXON Missense_R751C,Missense_R751C exm-rs1056893 5 96245439 [T/C] NM_022350,NM_001130140 ERAP2,ERAP2 EXON Synonymous_S775S,Synonymous_S775S exm-rs2549797 5 96245518 [A/G] NM_022350,NM_001130140 ERAP2,ERAP2 Silent,Silent exm468704 5 96248417 [G/C] NM_022350,NM_001130140 ERAP2,ERAP2 EXON Missense_Q811E,Missense_Q811E exm468707 5 96248496 [T/C] NM_022350,NM_001130140 ERAP2,ERAP2 EXON Missense_L837S,Missense_L837S exm468715 5 96251469 [A/G] NM_022350,NM_001130140 ERAP2,ERAP2 EXON Missense_Q912R,Missense_Q912R exm468720 5 96253281 [T/C] NM_022350,NM_001130140 ERAP2,ERAP2 EXON Missense_L952P,Missense_L952P exm-rs1019503 5 96254817 [A/G] NM_022350,NM_001130140 ERAP2,ERAP2 EXON Silent,Silent exm468729 5 96314935 [G/C] NM_005575,NM_175920 LNPEP,LNPEP EXON Missense_P38R,Missense_P24R exm468734 5 96315010 [T/C] NM_005575,NM_175920 LNPEP,LNPEP EXON Missense_M63T,Missense_M49T exm468737 5 96315087 [T/C] NM_005575,NM_175920 LNPEP,LNPEP EXON Missense_R89W,Missense_R75W exm468738 5 96315088 [A/G] NM_005575,NM_175920 LNPEP,LNPEP EXON Missense_R89Q,Missense_R75Q exm468747 5 96315411 [T/G] NM_005575,NM_175920 LNPEP,LNPEP EXON Missense_S197A,Missense_S183A exm2106952 5 96315487 [T/G] NM_005575,NM_175920 LNPEP,LNPEP EXON Missense_M222R,Missense_M208R exm468752 5 96320815 [A/G] NM_005575,NM_175920 LNPEP,LNPEP EXON Missense_A298T,Missense_A284T exm2106959 5 96320902 [A/G] NM_005575,NM_175920 LNPEP,LNPEP EXON Missense_A327T,Missense_A313T exm468755 5 96322255 [A/G] NM_005575,NM_175920 LNPEP,LNPEP EXON Missense_V338I,Missense_V324I exm468762 5 96322360 [A/G] NM_005575,NM_175920 LNPEP,LNPEP EXON Missense_V373I,Missense_V359I exm2106963 5 96328801 [A/G] NM_005575,NM_175920 LNPEP,LNPEP EXON Missense_Q405R,Missense_Q391R exm468766 5 96329622 [A/G] NM_005575,NM_175920 LNPEP,LNPEP EXON Missense_M452V,Missense_M438V exm2106967 5 96332133 [A/C] NM_005575,NM_175920 LNPEP,LNPEP EXON Missense_L483I,Missense_L469I exm468770 5 96333752 [T/C] NM_005575,NM_175920 LNPEP,LNPEP EXON Missense_M519T,Missense_M505T exm468781 5 96341912 [T/C] NM_005575,NM_175920 LNPEP,LNPEP EXON Missense_P641S,Missense_P627S exm468790 5 96349384 [A/G] NM_005575,NM_175920 LNPEP,LNPEP EXON Missense_V690I,Missense_V676I exm468797 5 96349505 [A/G] NM_005575,NM_175920 LNPEP,LNPEP EXON Missense_N730S,Missense_N716S exm468803 5 96350710 [A/G] NM_005575,NM_175920 LNPEP,LNPEP EXON Missense_A763T,Missense_A749T exm468819 5 96360265 [A/G] NM_005575,NM_175920 LNPEP,LNPEP EXON Missense_A868T,Missense_A854T exm2242895 5 96362321 [A/G] NM_005575,NM_175920 LNPEP,LNPEP EXON Nonsense_W908X,Nonsense_W894X exm468824 5 96362335 [C/G] NM_005575,NM_175920 LNPEP,LNPEP EXON Missense_S913T,Missense_S899T exm468826 5 96362385 [A/G] NM_005575,NM_175920 LNPEP,LNPEP EXON Missense_T930A,Missense_T916A exm468830 5 96363459 [A/G] NM_005575,NM_175920 LNPEP,LNPEP EXON Missense_I963V,Missense_I949V exm468838 5 96364215 [A/G] NM_005575,NM_175920 LNPEP,LNPEP EXON Missense_K1019R,Missense_K1005R exm2242896 5 96430474 [A/G] NM_153234 LIX1 EXON Missense_T276M exm2106998 5 96460332 [T/C] NM_153234 LIX1 EXON Synonymous_L28L exm468872 5 96478219 [A/G] NM_153234 LIX1 EXON Missense_P21L exm2261999 5 96484131 [T/G] exm468882 5 96498904 [T/C] NM_018343 RIOK2 EXON Missense_R507H exm468885 5 96500786 [G/C] NM_018343 RIOK2 EXON Missense_G488A exm468889 5 96503204 [A/G] NM_018343,NM_001159749 RIOK2,RIOK2 EXON Missense_L455S,Missense_L455S exm468890 5 96503378 [T/C] NM_018343,NM_001159749 RIOK2,RIOK2 EXON Missense_N397S,Missense_N397S exm468891 5 96503387 [A/G] NM_018343,NM_001159749 RIOK2,RIOK2 EXON Missense_T394I,Missense_T394I exm468894 5 96503523 [T/C] NM_018343,NM_001159749 RIOK2,RIOK2 EXON Missense_G349R,Missense_G349R exm468904 5 96506959 [T/C] NM_018343,NM_001159749 RIOK2,RIOK2 EXON Missense_M244V,Missense_M244V exm468907 5 96507040 [T/C] NM_018343,NM_001159749 RIOK2,RIOK2 EXON Missense_V217I,Missense_V217I exm2107018 5 96507059 [A/C] NM_018343,NM_001159749 RIOK2,RIOK2 EXON Missense_D210E,Missense_D210E exm468911 5 96508943 [T/C] NM_018343,NM_001159749 RIOK2,RIOK2 EXON Missense_V175I,Missense_V175I exm2242898 5 96512854 [T/C] NM_018343,NM_001159749 RIOK2,RIOK2 EXON Missense_R155H,Missense_R155H exm468921 5 96512887 [T/C] NM_018343,NM_001159749 RIOK2,RIOK2 EXON Missense_H144R,Missense_H144R exm468922 5 96512888 [A/G] NM_018343,NM_001159749 RIOK2,RIOK2 EXON Missense_H144Y,Missense_H144Y exm468924 5 96512900 [T/C] NM_018343,NM_001159749 RIOK2,RIOK2 EXON Missense_D140N,Missense_D140N exm468926 5 96512920 [T/C] NM_018343,NM_001159749 RIOK2,RIOK2 EXON Missense_R133Q,Missense_R133Q exm468931 5 96513456 [A/C] NM_018343,NM_001159749 RIOK2,RIOK2 EXON Missense_M101R,Missense_M101R exm468932 5 96513471 [C/G] NM_018343,NM_001159749 RIOK2,RIOK2 EXON Missense_S96C,Missense_S96C exm468935 5 96513538 [A/G] NM_018343,NM_001159749 RIOK2,RIOK2 EXON Missense_R74W,Missense_R74W exm468939 5 96514767 [T/C] NM_018343,NM_001159749 RIOK2,RIOK2 EXON Missense_R66H,Missense_R66H exm468940 5 96514827 [T/C] NM_018343,NM_001159749 RIOK2,RIOK2 EXON Missense_H46R,Missense_H46R exm468950 5 96518855 [T/C] NM_018343,NM_001159749 RIOK2,RIOK2 EXON Missense_R14Q,Missense_R14Q exm468951 5 96518877 [T/C] NM_018343,NM_001159749 RIOK2,RIOK2 EXON Missense_A7T,Missense_A7T exm2242900 5 96518879 [A/G] NM_018343,NM_001159749 RIOK2,RIOK2 EXON Missense_V6A,Missense_V6A exm2270091 5 96731630 [T/C] exm2270227 5 96946900 [T/G] exm2270092 5 97469921 [T/C] exm2270093 5 97747886 [T/G] exm-rs4703129 5 97888736 [A/C] exm2264147 5 98058939 [A/C] exm468966 5 98115311 [A/G] NM_001012761 RGMB EXON Missense_R96Q exm468967 5 98115367 [A/G] NM_001012761 RGMB EXON Missense_V115I exm468981 5 98115642 [T/G] NM_001012761 RGMB EXON Missense_L206F exm468995 5 98128936 [A/G] NM_001012761 RGMB EXON Missense_S306G exm468996 5 98128937 [A/G] NM_001012761 RGMB EXON Missense_S306N exm468998 5 98128948 [A/G] NM_001012761 RGMB EXON Missense_V310M exm469003 5 98129080 [A/G] NM_001012761 RGMB EXON Missense_V354M exm469014 5 98129269 [A/C] NM_001012761 RGMB EXON Missense_L417M exm469019 5 98192095 [A/G] NM_001270 CHD1 EXON Missense_R1708W exm2107036 5 98192154 [T/C] NM_001270 CHD1 EXON Missense_R1688K exm469022 5 98192167 [A/G] NM_001270 CHD1 EXON Missense_P1684S exm469025 5 98192268 [A/G] NM_001270 CHD1 EXON Missense_T1650M exm469028 5 98192305 [A/G] NM_001270 CHD1 EXON Missense_R1638W exm469038 5 98193990 [A/G] NM_001270 CHD1 EXON Missense_H1561Y exm469048 5 98194682 [A/G] NM_001270 CHD1 EXON Missense_V1521A exm469067 5 98205532 [T/C] NM_001270 CHD1 EXON Missense_I1345V exm469083 5 98212135 [T/C] NM_001270 CHD1 EXON Missense_N1122S exm469098 5 98217051 [A/C] NM_001270 CHD1 EXON Missense_S966A exm469111 5 98224802 [A/T] NM_001270 CHD1 EXON Missense_Y774F exm469116 5 98228403 [A/T] NM_001270 CHD1 EXON Missense_E669V exm469119 5 98229198 [T/C] NM_001270 CHD1 EXON Missense_R638H exm469125 5 98230371 [A/G] NM_001270 CHD1 EXON Missense_T577M exm469145 5 98234111 [T/C] NM_001270 CHD1 EXON Missense_G405D exm469150 5 98235374 [T/C] NM_001270 CHD1 EXON Missense_A299T exm469160 5 98236905 [C/G] NM_001270 CHD1 EXON Missense_R191T exm2107106 5 98238643 [T/C] NM_001270 CHD1 EXON Missense_D133G exm469173 5 98239582 [T/C] NM_001270 CHD1 EXON Missense_V96I exm2270094 5 98451600 [T/G] exm2264148 5 98694849 [A/C] exm-rs1829883 5 98781103 [T/C] exm2270095 5 99110348 [T/C] exm-rs2369754 5 99156362 [A/C] exm2270096 5 99291077 [T/G] exm-rs10067427 5 99342047 [A/G] exm2270228 5 99517454 [T/C] exm469183 5 99871244 [T/A] NM_198507 FAM174A EXON Missense_S4T exm469186 5 99871359 [A/G] NM_198507 FAM174A EXON Missense_G42D exm469196 5 99871518 [A/G] NM_198507 FAM174A EXON Missense_D95G exm469206 5 99897880 [A/G] NM_198507 FAM174A EXON Missense_N186S exm2270097 5 99986153 [T/C] exm-rs4702982 5 99991648 [T/C] exm469213 5 100147570 [T/C] NM_005668 ST8SIA4 EXON Missense_G354E exm2082949 5 100231428 [T/C] NM_005668,NM_175052 ST8SIA4,ST8SIA4 EXON Missense_A59T,Missense_A59T exm469245 5 100231433 [T/C] NM_005668,NM_175052 ST8SIA4,ST8SIA4 EXON Missense_R57Q,Missense_R57Q exm2265982 5 100582655 [A/G] exm-rs13355008 5 100695179 [T/C] exm2270229 5 100760453 [T/C] exm-rs13188771 5 100948545 [A/C] exm2261790 5 101019725 [A/G] exm2270098 5 101086200 [T/C] exm2265983 5 101344133 [A/G] exm469248 5 101572564 [A/G] NM_180991 SLCO4C1 EXON Missense_X725R exm469255 5 101574964 [A/C] NM_180991 SLCO4C1 EXON Missense_V669L exm469256 5 101574970 [T/G] NM_180991 SLCO4C1 EXON Missense_M667L exm469258 5 101575050 [T/C] NM_180991 SLCO4C1 EXON Missense_S640N exm469259 5 101575091 [T/C] NM_180991 SLCO4C1 EXON Synonymous_G626G exm469260 5 101576431 [A/G] NM_180991 SLCO4C1 EXON Nonsense_R623X exm469263 5 101582978 [G/C] NM_180991 SLCO4C1 EXON Missense_P597A exm469264 5 101582984 [T/C] NM_180991 SLCO4C1 EXON Missense_G595S exm469265 5 101583005 [T/C] NM_180991 SLCO4C1 EXON Missense_I588V exm469267 5 101583113 [T/G] NM_180991 SLCO4C1 EXON Missense_T552P exm469282 5 101592891 [A/G] NM_180991 SLCO4C1 EXON Missense_T466M exm469293 5 101593784 [A/C] NM_180991 SLCO4C1 EXON Missense_M379R exm469295 5 101596013 [A/T] NM_180991 SLCO4C1 EXON Missense_E344D exm469299 5 101597690 [A/G] NM_180991 SLCO4C1 EXON Missense_I316T exm469300 5 101597714 [A/G] NM_180991 SLCO4C1 EXON Missense_P308L exm469319 5 101627259 [T/C] NM_180991 SLCO4C1 EXON Missense_R136H exm469328 5 101631696 [T/C] NM_180991 SLCO4C1 EXON Missense_R91G exm469332 5 101631761 [T/C] NM_180991 SLCO4C1 EXON Missense_N69S exm469338 5 101631965 [A/G] NM_180991 SLCO4C1 EXON Missense_M1T exm-rs1584717 5 101671415 [C/G] exm469343 5 101709088 [T/C] NM_173488 SLCO6A1 EXON Missense_K710E exm469346 5 101709138 [T/C] NM_173488 SLCO6A1 EXON Missense_R693H exm469354 5 101724448 [G/C] NM_173488 SLCO6A1 EXON Missense_T654R exm469355 5 101724472 [T/C] NM_173488 SLCO6A1 EXON Missense_R646Q exm469356 5 101724473 [A/G] NM_173488 SLCO6A1 EXON Missense_R646W exm469360 5 101726735 [T/C] NM_173488 SLCO6A1 EXON Missense_K610R exm469362 5 101726744 [A/G] NM_173488 SLCO6A1 EXON Missense_V607A exm469367 5 101735270 [A/C] NM_173488 SLCO6A1 EXON Missense_L601F exm469371 5 101735329 [T/C] NM_173488 SLCO6A1 EXON Missense_I582V exm469374 5 101735373 [G/C] NM_173488 SLCO6A1 EXON Missense_R567T exm469390 5 101755653 [A/G] NM_173488 SLCO6A1 EXON Missense_S450F exm469392 5 101774329 [A/G] NM_173488 SLCO6A1 EXON Missense_T423I exm469400 5 101774455 [T/C] NM_173488 SLCO6A1 EXON Missense_K381R exm2083027 5 101794168 [T/C] NM_173488 SLCO6A1 EXON Missense_R350H exm469411 5 101795411 [T/C] NM_173488 SLCO6A1 EXON Missense_V324I exm469412 5 101795417 [T/C] NM_173488 SLCO6A1 EXON Missense_A322T exm469416 5 101811466 [A/C] NM_173488 SLCO6A1 EXON Nonsense_Y278X exm469425 5 101815901 [T/G] NM_173488 SLCO6A1 EXON Missense_Q199P exm469430 5 101815983 [T/C] NM_173488 SLCO6A1 EXON Missense_I172V exm469432 5 101816007 [A/G] NM_173488 SLCO6A1 EXON Missense_F164L exm469438 5 101816115 [T/C] NM_173488 SLCO6A1 EXON Missense_V128I exm469447 5 101834364 [T/C] NM_173488 SLCO6A1 EXON Missense_G62D exm469449 5 101834413 [T/C] NM_173488 SLCO6A1 EXON Missense_K46E exm469453 5 101834488 [T/G] NM_173488 SLCO6A1 EXON Missense_P21T exm-rs1502844 5 101859317 [T/C] exm2256818 5 102006184 [T/C] exm469464 5 102201978 [A/G] NM_001177306,NR_033440,NM_138822,NM_000919,NM_138821,NM_138766 PAM,PAM,PAM,PAM,PAM,PAM EXON Missense_V27I,Silent,Missense_V27I,Missense_V27I,Missense_V27I,Missense_V27I exm469465 5 102202979 [T/A] NM_001177306,NR_033440,NM_138822,NM_000919,NM_138821,NM_138766 PAM,PAM,PAM,PAM,PAM,PAM EXON Missense_F31Y,Silent,Missense_F31Y,Missense_F31Y,Missense_F31Y,Missense_F31Y exm469467 5 102203032 [G/C] NM_001177306,NR_033440,NM_138822,NM_000919,NM_138821,NM_138766 PAM,PAM,PAM,PAM,PAM,PAM EXON Missense_V49L,Silent,Missense_V49L,Missense_V49L,Missense_V49L,Missense_V49L exm469469 5 102203047 [T/C] NM_001177306,NR_033440,NM_138822,NM_000919,NM_138821,NM_138766 PAM,PAM,PAM,PAM,PAM,PAM EXON Missense_S54P,Silent,Missense_S54P,Missense_S54P,Missense_S54P,Missense_S54P exm469470 5 102203059 [A/G] NM_001177306,NR_033440,NM_138822,NM_000919,NM_138821,NM_138766 PAM,PAM,PAM,PAM,PAM,PAM EXON Missense_A58T,Silent,Missense_A58T,Missense_A58T,Missense_A58T,Missense_A58T exm469475 5 102249652 [T/C] NM_001177306,NR_033440,NM_138822,NM_000919,NM_138821,NM_138766 PAM,PAM,PAM,PAM,PAM,PAM EXON Nonsense_R95X,Silent,Nonsense_R95X,Nonsense_R95X,Nonsense_R95X,Nonsense_R95X exm2083064 5 102260735 [A/G] NM_001177306,NR_033440,NM_138822,NM_000919,NM_138821,NM_138766 PAM,PAM,PAM,PAM,PAM,PAM EXON Missense_R144Q,Silent,Missense_R144Q,Missense_R144Q,Missense_R144Q,Missense_R144Q exm469488 5 102282583 [A/G] NM_001177306,NR_033440,NM_138822,NM_000919,NM_138821,NM_138766 PAM,PAM,PAM,PAM,PAM,PAM EXON Missense_R190H,Silent,Missense_R190H,Missense_R190H,Missense_R190H,Missense_R190H exm469489 5 102282589 [T/C] NM_001177306,NR_033440,NM_138822,NM_000919,NM_138821,NM_138766 PAM,PAM,PAM,PAM,PAM,PAM EXON Missense_P192L,Silent,Missense_P192L,Missense_P192L,Missense_P192L,Missense_P192L exm469497 5 102285612 [T/C] NM_001177306,NR_033440,NM_138822,NM_000919,NM_138821,NM_138766 PAM,PAM,PAM,PAM,PAM,PAM EXON Missense_V244A,Silent,Missense_V244A,Missense_V244A,Missense_V244A,Missense_V244A exm469504 5 102295628 [G/C] NM_001177306,NR_033440,NM_138822,NM_000919,NM_138821,NM_138766 PAM,PAM,PAM,PAM,PAM,PAM EXON Missense_E319Q,Silent,Missense_E319Q,Missense_E319Q,Missense_E319Q,Missense_E319Q exm469508 5 102295724 [A/G] NM_001177306,NR_033440,NM_138822,NM_000919,NM_138821,NM_138766 PAM,PAM,PAM,PAM,PAM,PAM EXON Missense_V351M,Silent,Missense_V351M,Missense_V351M,Missense_V351M,Missense_V351M exm469517 5 102309859 [A/G] NM_001177306,NR_033440,NM_138822,NM_000919,NM_138821,NM_138766 PAM,PAM,PAM,PAM,PAM,PAM EXON Missense_R401K,Silent,Missense_R401K,Missense_R401K,Silent,Missense_R401K exm469519 5 102310011 [A/G] NM_001177306,NR_033440,NM_138822,NM_000919,NM_138821,NM_138766 PAM,PAM,PAM,PAM,PAM,PAM EXON Missense_I452V,Silent,Missense_I452V,Missense_I452V,Silent,Missense_I452V exm469522 5 102310060 [T/C] NM_001177306,NR_033440,NM_138822,NM_000919,NM_138821,NM_138766 PAM,PAM,PAM,PAM,PAM,PAM EXON Missense_L468S,Silent,Missense_L468S,Missense_L468S,Silent,Missense_L468S exm469524 5 102310130 [A/C] NM_001177306,NR_033440,NM_138822,NM_000919,NM_138821,NM_138766 PAM,PAM,PAM,PAM,PAM,PAM EXON Missense_E491D,Silent,Missense_E491D,Missense_E491D,Silent,Missense_E491D exm469525 5 102310135 [T/C] NM_001177306,NR_033440,NM_138822,NM_000919,NM_138821,NM_138766 PAM,PAM,PAM,PAM,PAM,PAM EXON Missense_T493I,Silent,Missense_T493I,Missense_T493I,Silent,Missense_T493I exm469535 5 102326054 [T/C] NM_001177306,NR_033440,NM_138822,NM_000919,NM_138821,NM_138766 PAM,PAM,PAM,PAM,PAM,PAM EXON Missense_P521L,Silent,Missense_P521L,Missense_P521L,Missense_P414L,Missense_P521L exm469540 5 102338783 [A/G] NM_001177306,NR_033440,NM_138822,NM_000919,NM_138821,NM_138766 PAM,PAM,PAM,PAM,PAM,PAM EXON Missense_I554V,Silent,Missense_I554V,Missense_I554V,Missense_I447V,Missense_I554V exm2083101 5 102338801 [T/C] NM_001177306,NR_033440,NM_138822,NM_000919,NM_138821,NM_138766 PAM,PAM,PAM,PAM,PAM,PAM EXON Missense_L560F,Silent,Missense_L560F,Missense_L560F,Missense_L453F,Missense_L560F exm469544 5 102338811 [A/G] NM_001177306,NR_033440,NM_138822,NM_000919,NM_138821,NM_138766 PAM,PAM,PAM,PAM,PAM,PAM EXON Missense_D563G,Silent,Missense_D563G,Missense_D563G,Missense_D456G,Missense_D563G exm469556 5 102343266 [A/G] NM_001177306,NR_033440,NM_138822,NM_000919,NM_138821,NM_138766 PAM,PAM,PAM,PAM,PAM,PAM EXON Missense_R707Q,Silent,Missense_R707Q,Missense_R707Q,Missense_R600Q,Missense_R707Q exm469567 5 102345565 [T/C] NM_001177306,NR_033440,NM_138822,NM_000919,NM_138821,NM_138766 PAM,PAM,PAM,PAM,PAM,PAM EXON Missense_R776C,Silent,Missense_R776C,Missense_R776C,Missense_R669C,Missense_R776C exm469584 5 102364597 [A/G] NM_001177306,NR_033440,NM_138822,NM_000919,NM_138821,NM_138766 PAM,PAM,PAM,PAM,PAM,PAM EXON Missense_G917E,Silent,Missense_G831E,Missense_G918E,Missense_G810E,Missense_G849E exm469593 5 102423628 [T/C] NM_017676 GIN1 EXON Missense_N515D exm469595 5 102423680 [T/C] NM_017676 GIN1 EXON Missense_I497M exm469602 5 102423828 [A/G] NM_017676 GIN1 EXON Missense_I448T exm2256821 5 102432504 [T/C] NM_017676 GIN1 EXON Synonymous_L345L exm469610 5 102432504 [T/C] NM_017676 GIN1 EXON Synonymous_L345L exm469613 5 102433098 [T/C] NM_017676 GIN1 EXON Missense_T310A exm469619 5 102433349 [T/C] NM_017676 GIN1 EXON Missense_N259S exm469622 5 102433409 [A/G] NM_017676 GIN1 EXON Missense_T239M exm469624 5 102433434 [A/G] NM_017676 GIN1 EXON Missense_H231Y exm469637 5 102440495 [A/T] NM_017676 GIN1 EXON Missense_K130I exm469645 5 102444380 [T/C] NM_017676 GIN1 EXON Missense_H11R exm469677 5 102490411 [T/G] NR_074081,NM_001276277,NM_015216 PPIP5K2,PPIP5K2,PPIP5K2 EXON Silent,Missense_S419A,Missense_S419A exm469722 5 102515798 [G/C] NR_074081,NM_001276277,NM_015216 PPIP5K2,PPIP5K2,PPIP5K2 EXON Silent,Missense_A944G,Missense_A944G exm469733 5 102520389 [T/C] NR_074081,NM_001276277,NM_015216 PPIP5K2,PPIP5K2,PPIP5K2 EXON Silent,Missense_A1038V,Missense_A1038V exm469749 5 102530601 [T/C] NR_074081,NM_001276277,NM_015216 PPIP5K2,PPIP5K2,PPIP5K2 EXON Silent,Missense_S1165F,Missense_S1144F exm469750 5 102530615 [T/C] NR_074081,NM_001276277,NM_015216 PPIP5K2,PPIP5K2,PPIP5K2 EXON Silent,Missense_R1170C,Missense_R1149C exm469753 5 102530663 [T/C] NR_074081,NM_001276277,NM_015216 PPIP5K2,PPIP5K2,PPIP5K2 EXON Silent,Missense_P1186S,Missense_P1165S exm469757 5 102530724 [A/C] NR_074081,NM_001276277,NM_015216 PPIP5K2,PPIP5K2,PPIP5K2 EXON Silent,Missense_P1206Q,Missense_P1185Q exm469760 5 102537226 [T/C] NR_074081,NM_001276277,NM_015216 PPIP5K2,PPIP5K2,PPIP5K2 EXON Silent,Missense_T1208I,Missense_T1187I exm469766 5 102537285 [A/G] NR_074081,NM_001276277,NM_015216 PPIP5K2,PPIP5K2,PPIP5K2 EXON Silent,Missense_S1228G,Missense_S1207G exm469767 5 102537298 [T/C] NR_074081,NM_001276277,NM_015216 PPIP5K2,PPIP5K2,PPIP5K2 EXON Silent,Missense_T1232M,Missense_T1211M exm-rs26232 5 102596720 [T/C] NM_033211 C5orf30 Silent exm469770 5 102611630 [A/G] NM_033211 C5orf30 EXON Missense_D4N exm469774 5 102611685 [A/C] NM_033211 C5orf30 EXON Missense_E22A exm469776 5 102611697 [T/C] NM_033211 C5orf30 EXON Missense_P26L exm469777 5 102611706 [T/C] NM_033211 C5orf30 EXON Missense_A29V exm469781 5 102611776 [A/G] NM_033211 C5orf30 EXON Synonymous_Q52Q exm469792 5 102611934 [A/G] NM_033211 C5orf30 EXON Missense_R105H exm469804 5 102886575 [T/C] NM_031438 NUDT12 EXON Missense_N459S exm469809 5 102887994 [A/G] NM_031438 NUDT12 EXON Missense_L401S exm469826 5 102891773 [A/G] NM_031438 NUDT12 EXON Missense_L275F exm469828 5 102894627 [A/G] NM_031438 NUDT12 EXON Missense_L250P exm2083271 5 102894676 [A/G] NM_031438 NUDT12 EXON Missense_P234S exm2083272 5 102894696 [T/C] NM_031438 NUDT12 EXON Nonsense_W227X exm469840 5 102894730 [T/C] NM_031438 NUDT12 EXON Missense_V216I exm469846 5 102894820 [T/C] NM_031438 NUDT12 EXON Missense_D186N exm469853 5 102894973 [T/G] NM_031438 NUDT12 EXON Missense_N135H exm469855 5 102894991 [T/C] NM_031438 NUDT12 EXON Missense_K129E exm469859 5 102895072 [T/C] NM_031438 NUDT12 EXON Missense_K102E exm469871 5 102895930 [G/C] NM_031438 NUDT12 EXON Missense_S7T exm2256823 5 103025458 [T/C] exm2261792 5 103096646 [A/G] exm2270101 5 103425505 [T/C] exm2270231 5 103670162 [T/C] exm2265985 5 103867339 [A/G] exm2256829 5 104222478 [A/C] exm-rs17157450 5 104356919 [T/C] exm2261794 5 104458953 [T/C] exm2270102 5 104860466 [T/C] exm2266106 5 104952574 [A/G] exm2256831 5 105425352 [T/C] exm2256832 5 105780577 [A/G] exm2270233 5 106005425 [T/C] exm2270104 5 106518444 [T/C] exm2083428 5 106716975 [A/G] NM_001962 EFNA5 EXON Missense_A223V exm469877 5 106717044 [T/C] NM_001962 EFNA5 EXON Missense_R200H exm-rs252817 5 106724588 [T/C] NM_001962 EFNA5 Silent exm469888 5 106763146 [A/G] NM_001962 EFNA5 EXON Missense_H64Y exm2270234 5 106879502 [T/G] NM_001962 EFNA5 Silent exm-rs10074258 5 106982560 [T/C] NM_001962 EFNA5 Silent exm2256838 5 107032708 [T/G] exm469905 5 107197555 [T/C] NM_001163315 FBXL17 EXON Missense_E658K exm2266107 5 107332887 [A/G] NM_001163315 FBXL17 Silent exm469926 5 107559845 [T/C] NM_001163315 FBXL17 EXON Missense_K531E exm2265987 5 107563468 [A/G] NM_001163315 FBXL17 Silent exm469932 5 107684156 [T/C] NM_001163315 FBXL17 EXON Missense_V484I exm469944 5 107716411 [T/C] NM_001163315 FBXL17 EXON Missense_I328V exm-rs10447248 5 107915736 [A/G] exm2265988 5 108040166 [A/G] exm-rs13177718 5 108113344 [T/C] NM_005246 FER Silent exm469963 5 108168579 [T/G] NM_005246 FER EXON Missense_D106Y exm469965 5 108171409 [T/G] NM_005246 FER EXON Missense_V128F exm469993 5 108207888 [T/G] NM_005246 FER EXON Missense_L300V exm469994 5 108207912 [A/G] NM_005246 FER EXON Missense_M308V exm469998 5 108219139 [T/G] NM_005246 FER EXON Missense_M322I exm470001 5 108233362 [T/C] NM_005246 FER EXON Missense_I350T exm470008 5 108233487 [T/G] NM_005246 FER EXON Missense_D392Y exm470011 5 108233547 [A/G] NM_005246 FER EXON Missense_M412V exm470018 5 108281909 [C/G] NM_005246 FER EXON Missense_L439V exm470021 5 108281921 [C/G] NM_005246 FER EXON Missense_A443P exm470030 5 108294969 [T/A] NM_005246 FER EXON Missense_Q526L exm470050 5 108436148 [A/G] NM_005246 FER EXON Missense_K659R exm2265989 5 108519979 [A/G] NM_005246 FER Silent exm470062 5 108521910 [G/C] NM_005246 FER EXON Missense_S738T exm470064 5 108521939 [A/G] NM_005246 FER EXON Missense_I748V exm2266108 5 108566199 [A/G] exm470079 5 108672946 [T/C] NM_014819 PJA2 EXON Missense_A705T exm470092 5 108698676 [T/C] NM_014819 PJA2 EXON Missense_N506S exm470093 5 108698712 [A/G] NM_014819 PJA2 EXON Missense_S494F exm470097 5 108704336 [T/A] NM_014819 PJA2 EXON Missense_D465E exm470103 5 108713923 [T/C] NM_014819 PJA2 EXON Missense_Y422C exm470106 5 108713984 [T/C] NM_014819 PJA2 EXON Missense_A402T exm470112 5 108714224 [T/C] NM_014819 PJA2 EXON Missense_I322V exm470114 5 108714289 [T/C] NM_014819 PJA2 EXON Missense_N300S exm470116 5 108714298 [T/C] NM_014819 PJA2 EXON Missense_Q297R exm470118 5 108714325 [A/C] NM_014819 PJA2 EXON Missense_C288F exm470124 5 108714391 [T/C] NM_014819 PJA2 EXON Missense_S266N exm470132 5 108714529 [A/G] NM_014819 PJA2 EXON Missense_P220L exm2083574 5 108714557 [T/C] NM_014819 PJA2 EXON Missense_A211T exm470135 5 108714661 [T/C] NM_014819 PJA2 EXON Missense_E176G exm470136 5 108714664 [A/C] NM_014819 PJA2 EXON Missense_G175V exm470139 5 108714685 [T/C] NM_014819 PJA2 EXON Missense_Y168C exm2083577 5 108714800 [C/G] NM_014819 PJA2 EXON Missense_D130H exm470150 5 108717291 [T/C] NM_014819 PJA2 EXON Missense_M49V exm2265990 5 108979718 [A/G] exm470167 5 109049221 [A/G] NM_002372 MAN2A1 EXON Missense_G46S exm470168 5 109049233 [A/G] NM_002372 MAN2A1 EXON Missense_M50V exm470170 5 109049264 [A/G] NM_002372 MAN2A1 EXON Missense_R60H exm2241512 5 109049363 [A/G] NM_002372 MAN2A1 EXON Missense_N93S exm470176 5 109049462 [A/G] NM_002372 MAN2A1 EXON Missense_N126S exm470181 5 109051890 [A/G] NM_002372 MAN2A1 EXON Missense_I154V exm470186 5 109065098 [A/T] NM_002372 MAN2A1 EXON Missense_N197K exm470188 5 109065129 [T/C] NM_002372 MAN2A1 EXON Missense_R208W exm470203 5 109103349 [A/G] NM_002372 MAN2A1 EXON Missense_A317T exm470214 5 109110515 [A/G] NM_002372 MAN2A1 EXON Missense_R408Q exm470216 5 109110536 [A/G] NM_002372 MAN2A1 EXON Missense_R415H exm470219 5 109110578 [A/T] NM_002372 MAN2A1 EXON Missense_Y429F exm470222 5 109110635 [A/G] NM_002372 MAN2A1 EXON Missense_Y448C exm2274084 5 109117167 [A/G] NM_002372 MAN2A1 EXON Missense_G482D exm470233 5 109120495 [A/C] NM_002372 MAN2A1 EXON Missense_K543T exm470234 5 109120497 [A/G] NM_002372 MAN2A1 EXON Missense_I544V exm470243 5 109124719 [G/C] NM_002372 MAN2A1 EXON Missense_D615E exm470249 5 109125225 [T/C] NM_002372 MAN2A1 EXON Missense_P647L exm470257 5 109153050 [G/C] NM_002372 MAN2A1 EXON Missense_Q674E exm470261 5 109153084 [T/C] NM_002372 MAN2A1 EXON Missense_V685A exm470266 5 109155392 [T/C] NM_002372 MAN2A1 EXON Missense_P711L exm2241515 5 109155967 [A/G] NM_002372 MAN2A1 EXON Missense_Q792R exm470283 5 109159494 [T/A] NM_002372 MAN2A1 EXON Missense_F841Y exm470287 5 109178098 [T/C] NM_002372 MAN2A1 EXON Missense_A879V exm470293 5 109181648 [T/C] NM_002372 MAN2A1 EXON Missense_A928V exm2083651 5 109190841 [A/G] NM_002372 MAN2A1 EXON Missense_E993K exm470309 5 109190938 [T/C] NM_002372 MAN2A1 EXON Missense_S1025F exm470311 5 109190943 [T/C] NM_002372 MAN2A1 EXON Missense_P1027S exm470314 5 109191026 [A/G] NM_002372 MAN2A1 EXON Missense_I1054M exm470325 5 109202670 [A/G] NM_002372 MAN2A1 EXON Missense_I1136V exm2270106 5 109417383 [T/C] exm-rs4460176 5 109496960 [T/G] exm470330 5 109756436 [A/G] NM_001039763 TMEM232 EXON Nonsense_R607X exm470332 5 109760524 [A/G] NM_001039763 TMEM232 EXON Synonymous_H599H exm470333 5 109760534 [A/G] NM_001039763 TMEM232 EXON Missense_I596T exm470334 5 109760586 [A/C] NM_001039763 TMEM232 EXON Missense_F579V exm470337 5 109904158 [T/C] NM_001039763 TMEM232 EXON Missense_N482S exm470338 5 109904162 [T/C] NM_001039763 TMEM232 EXON Missense_I481V exm470341 5 109904249 [T/C] NM_001039763 TMEM232 EXON Missense_E452K exm470342 5 109940822 [T/C] NM_001039763 TMEM232 EXON Missense_M422V exm470344 5 109940891 [T/C] NM_001039763 TMEM232 EXON Missense_D399N exm470348 5 109941017 [T/C] NM_001039763 TMEM232 EXON Missense_V357I exm470349 5 109941887 [T/C] NM_001039763 TMEM232 EXON Missense_S335N exm470352 5 109954164 [T/C] NM_001039763 TMEM232 EXON Missense_V290I exm470353 5 109954205 [T/C] NM_001039763 TMEM232 EXON Missense_Q276R exm470358 5 109961013 [T/G] NM_001039763 TMEM232 EXON Missense_R241S exm470359 5 109961032 [T/C] NM_001039763 TMEM232 EXON Missense_R235H exm470361 5 109963482 [T/C] NM_001039763 TMEM232 EXON Missense_A201T exm470362 5 109963510 [A/C] NM_001039763 TMEM232 EXON Missense_H191Q exm470366 5 109973945 [A/G] NM_001039763 TMEM232 EXON Missense_A152V exm470369 5 109973978 [A/G] NM_001039763 TMEM232 EXON Missense_A141V exm470370 5 109974026 [T/C] NM_001039763 TMEM232 EXON Missense_D125G exm470375 5 110002974 [T/C] NM_001039763 TMEM232 EXON Missense_K27R exm-rs17132261 5 110008214 [T/C] NM_001039763 TMEM232 Silent exm470377 5 110074872 [T/G] NM_138773 SLC25A46 EXON Missense_A18S exm470388 5 110075055 [A/G] NM_138773 SLC25A46 EXON Missense_E79K exm470389 5 110075098 [A/G] NM_138773 SLC25A46 EXON Missense_S93N exm470403 5 110082001 [A/C] NM_138773 SLC25A46 EXON Missense_T139N exm470411 5 110092412 [A/G] NM_138773 SLC25A46 EXON Missense_V211M exm470416 5 110096958 [A/G] NM_138773 SLC25A46 EXON Missense_G245R exm470417 5 110096967 [A/C] NM_138773 SLC25A46 EXON Missense_I248L exm470418 5 110096971 [A/G] NM_138773 SLC25A46 EXON Missense_G249D exm470419 5 110096992 [A/G] NM_138773 SLC25A46 EXON Missense_K256R exm470427 5 110097362 [T/G] NM_138773 SLC25A46 EXON Missense_E379D exm2261801 5 110355405 [A/G] exm-rs3806932 5 110405675 [A/G] exm470438 5 110407725 [T/C] NR_045089,NM_033035 TSLP,TSLP EXON Silent,Missense_T46I exm470454 5 110411644 [A/G] NR_045089,NM_033035,NM_138551 TSLP,TSLP,TSLP EXON Silent,Missense_I118V,Missense_I22V exm470458 5 110411702 [C/G] NR_045089,NM_033035,NM_138551 TSLP,TSLP,TSLP EXON Silent,Missense_C137S,Missense_C41S exm470466 5 110428060 [T/C] NM_139281 WDR36 EXON Missense_L25P exm470468 5 110428077 [A/C] NM_139281 WDR36 EXON Missense_P31T exm470470 5 110428085 [C/G] NM_139281 WDR36 EXON Missense_D33E exm470471 5 110428093 [A/C] NM_139281 WDR36 EXON Missense_K36T exm470474 5 110428180 [A/C] NM_139281 WDR36 EXON Missense_T65K exm470477 5 110428265 [T/G] NM_139281 WDR36 EXON Missense_K93N exm2083719 5 110428294 [A/G] NM_139281 WDR36 EXON Missense_G103D exm470488 5 110432794 [A/G] NM_139281 WDR36 EXON Missense_D126N exm470493 5 110434448 [T/C] NM_139281 WDR36 EXON Missense_A163V exm-rs2416257 5 110435490 [T/C] NM_139281 WDR36 Silent exm470499 5 110436345 [A/C] NM_139281 WDR36 EXON Missense_H212P exm470507 5 110439509 [A/G] NM_139281 WDR36 EXON Missense_I264V exm470510 5 110439575 [T/C] NM_139281 WDR36 EXON Missense_R286C exm470517 5 110439989 [A/G] NM_139281 WDR36 EXON Missense_G338R exm470520 5 110440034 [T/G] NM_139281 WDR36 EXON Missense_A353S exm470521 5 110440037 [A/G] NM_139281 WDR36 EXON Missense_D354N exm470522 5 110440041 [A/G] NM_139281 WDR36 EXON Missense_N355S exm470532 5 110441042 [A/G] NM_139281 WDR36 EXON Missense_N415S exm470533 5 110441044 [A/C] NM_139281 WDR36 EXON Missense_K416Q exm470534 5 110441783 [A/G] NM_139281 WDR36 EXON Missense_R430H exm470537 5 110441839 [A/G] NM_139281 WDR36 EXON Missense_A449T exm470539 5 110442998 [C/G] NM_139281 WDR36 EXON Missense_A452P exm470541 5 110443041 [A/G] NM_139281 WDR36 EXON Missense_G466D exm470553 5 110445979 [A/G] NM_139281 WDR36 EXON Missense_R529Q exm470555 5 110446519 [A/G] NM_139281 WDR36 EXON Missense_D548N exm470559 5 110446885 [A/G] NM_139281 WDR36 EXON Missense_A598T exm470579 5 110448851 [T/G] NM_139281 WDR36 EXON Missense_C655G exm2265991 5 110452845 [A/G] NM_139281 WDR36 Silent exm470582 5 110454719 [A/G] NM_139281 WDR36 EXON Missense_D658G exm470586 5 110454757 [A/G] NM_139281 WDR36 EXON Missense_M671V exm470589 5 110456244 [A/G] NM_139281 WDR36 EXON Missense_D708G exm470591 5 110456258 [A/G] NM_139281 WDR36 EXON Missense_I713V exm470593 5 110456264 [A/G] NM_139281 WDR36 EXON Missense_M715V exm470596 5 110456748 [T/A] NM_139281 WDR36 EXON Missense_D742V exm2256849 5 110456755 [A/G] NM_139281 WDR36 EXON Synonymous_P744P exm470630 5 110560252 [A/G] NM_001744 CAMK4 EXON Missense_G24E exm-rs10491334 5 110772404 [T/C] NM_001744 CAMK4 Silent exm2241523 5 110782456 [A/G] NM_001744 CAMK4 EXON Missense_D178N exm470647 5 110784900 [T/C] NM_001744 CAMK4 EXON Synonymous_C208C exm470650 5 110814116 [A/G] NM_001744 CAMK4 EXON Missense_D247N exm470654 5 110818504 [A/G] NM_001744 CAMK4 EXON Missense_D284N exm470667 5 110819852 [A/C] NM_001744 CAMK4 EXON Missense_K370N exm470671 5 110819980 [T/C] NM_001744 CAMK4 EXON Missense_A413V exm470674 5 110820069 [A/G] NM_001744 CAMK4 EXON Missense_T443A exm470676 5 110820128 [A/C] NM_001744 CAMK4 EXON Missense_E462D exm470677 5 110820136 [A/G] NM_001744 CAMK4 EXON Missense_Q465R exm470678 5 110820138 [G/C] NM_001744 CAMK4 EXON Missense_Q466E exm470685 5 110835655 [A/G] NM_139164 STARD4 EXON Nonsense_Q183X exm470691 5 110835762 [T/C] NM_139164 STARD4 EXON Missense_R147Q exm470702 5 110837715 [T/C] NM_139164 STARD4 EXON Missense_R76H exm470712 5 110843028 [A/G] NM_139164 STARD4 EXON Missense_T35M exm2261802 5 110919711 [A/G] NR_040093 STARD4-AS1 Silent exm470725 5 111066697 [T/C] NR_040093,NM_001142479,NM_001142477,NM_001142474,NM_001142480,NM_001142476,NM_001142478,NM_001142475,NM_001142482,NM_001142483,NM_004772,NM_001142481 STARD4-AS1,NREP,NREP,NREP,NREP,NREP,NREP,NREP,NREP,NREP,NREP,NREP EXON Silent,Missense_E43G,Missense_E43G,Missense_E77G,Missense_E43G,Missense_E43G,Missense_E43G,Missense_E87G,Missense_E43G,Missense_E43G,Missense_E43G,Missense_E43G exm470727 5 111071162 [A/G] NR_040093,NM_001142479,NM_001142477,NM_001142474,NM_001142480,NM_001142476,NM_001142478,NM_001142475,NM_001142482,NM_001142483,NM_004772,NM_001142481 STARD4-AS1,NREP,NREP,NREP,NREP,NREP,NREP,NREP,NREP,NREP,NREP,NREP EXON Silent,Missense_F16L,Missense_F16L,Missense_F50L,Missense_F16L,Missense_F16L,Missense_F16L,Missense_F60L,Missense_F16L,Missense_F16L,Missense_F16L,Missense_F16L exm2270108 5 111103258 [T/C] NM_001142474,NM_001142475 NREP,NREP Silent,Silent exm470734 5 111311054 [A/G] NM_001142474,NM_001142475,NR_046678 NREP,NREP,NREP-AS1 EXON Nonsense_R18X,Nonsense_R18X,Silent exm-rs34927 5 111358740 [T/C] exm470768 5 111500706 [T/C] NM_022140 EPB41L4A EXON Missense_R681H exm470769 5 111500728 [T/C] NM_022140 EPB41L4A EXON Missense_I674V exm470771 5 111500751 [A/G] NM_022140 EPB41L4A EXON Missense_A666V exm470772 5 111500792 [G/C] NM_022140 EPB41L4A EXON Missense_S652R exm470775 5 111500815 [T/A] NM_022140 EPB41L4A EXON Nonsense_R645X exm470780 5 111504443 [A/C] NM_022140 EPB41L4A EXON Missense_V642G exm470787 5 111504714 [A/G] NM_022140 EPB41L4A EXON Nonsense_R610X exm470789 5 111504782 [A/C] NM_022140 EPB41L4A EXON Missense_R587L exm470791 5 111504786 [T/C] NM_022140 EPB41L4A EXON Missense_I586V exm470805 5 111519735 [A/G] NM_022140 EPB41L4A EXON Nonsense_R534X exm470806 5 111519740 [T/C] NM_022140 EPB41L4A EXON Missense_N532S exm470807 5 111519758 [T/A] NM_022140 EPB41L4A EXON Missense_N526I exm470822 5 111530281 [A/G] NM_022140 EPB41L4A EXON Missense_R496W exm470823 5 111530284 [A/G] NM_022140 EPB41L4A EXON Missense_Y495H exm470826 5 111530332 [A/G] NM_022140 EPB41L4A EXON Missense_R479C exm2256853 5 111538602 [T/G] NM_022140 EPB41L4A Silent exm470835 5 111540126 [T/C] NM_022140 EPB41L4A EXON Missense_R441H exm470836 5 111540145 [T/C] NM_022140 EPB41L4A EXON Missense_K435E exm470839 5 111540174 [T/C] NM_022140 EPB41L4A EXON Missense_N425S exm470842 5 111541186 [C/G] NM_022140 EPB41L4A EXON Missense_K398N exm470848 5 111545670 [G/C] NM_022140 EPB41L4A EXON Missense_S366T exm470852 5 111570400 [A/G] NM_022140 EPB41L4A EXON Missense_P340S exm470854 5 111570426 [T/C] NM_022140 EPB41L4A EXON Missense_R331Q exm470857 5 111575356 [A/C] NM_022140 EPB41L4A Silent exm470866 5 111576477 [A/G] NM_022140 EPB41L4A EXON Missense_R276W exm470867 5 111576501 [T/C] NM_022140 EPB41L4A EXON Missense_E268K exm2275811 5 111595630 [A/C] NM_022140 EPB41L4A EXON Missense_V230G exm2256854 5 111598197 [A/G] NM_022140 EPB41L4A EXON Synonymous_P212P exm470874 5 111598198 [A/G] NM_022140 EPB41L4A EXON Missense_P212L exm470876 5 111598211 [T/C] NM_022140 EPB41L4A EXON Missense_V208I exm470883 5 111600618 [T/C] NM_022140 EPB41L4A EXON Missense_I177V exm470888 5 111600710 [T/G] NM_022140 EPB41L4A EXON Missense_E146A exm470890 5 111601969 [T/C] NM_022140 EPB41L4A EXON Missense_V132I exm470899 5 111616010 [T/C] NM_022140 EPB41L4A EXON Missense_D72G exm470901 5 111643084 [A/G] NM_022140 EPB41L4A EXON Missense_T68M exm470902 5 111643086 [G/C] NM_022140 EPB41L4A EXON Missense_Q67H exm470911 5 111754732 [T/C] NM_022140 EPB41L4A EXON Missense_G2D exm2270236 5 111756424 [T/G] NR_027706 FLJ11235 EXON Silent exm2256856 5 111979706 [T/G] exm470915 5 112090657 [T/C] NM_001127511,NM_001127510,NM_000038 APC,APC,APC EXON Silent,Nonsense_R24X,Nonsense_R24X exm470928 5 112102960 [T/C] NM_001127511,NM_001127510,NM_000038 APC,APC,APC EXON Missense_R109W,Missense_R99W,Missense_R99W exm470938 5 112116562 [G/C] NM_001127511,NM_001127510,NM_000038 APC,APC,APC EXON Missense_Q213E,Missense_Q203E,Missense_Q203E exm470968 5 112154969 [T/C] NM_001127511,NM_001127510,NM_000038 APC,APC,APC EXON Missense_R396C,Missense_R414C,Missense_R414C exm470983 5 112163681 [T/C] NM_001127511,NM_001127510,NM_000038 APC,APC,APC EXON Missense_S517F,Missense_S535F,Missense_S535F exm470994 5 112170729 [A/G] NM_001127511,NM_001127510,NM_000038 APC,APC,APC EXON Missense_V591I,Missense_V609I,Missense_V609I exm470996 5 112173250 [A/G] NM_001127511,NM_001127510,NM_000038 APC,APC,APC EXON Synonymous_R635R,Synonymous_R653R,Synonymous_R653R exm471009 5 112173729 [A/G] NM_001127511,NM_001127510,NM_000038 APC,APC,APC EXON Missense_N795S,Missense_N813S,Missense_N813S exm471010 5 112173752 [A/G] NM_001127511,NM_001127510,NM_000038 APC,APC,APC EXON Missense_V803I,Missense_V821I,Missense_V821I exm471012 5 112173767 [T/G] NM_001127511,NM_001127510,NM_000038 APC,APC,APC EXON Missense_L808V,Missense_L826V,Missense_L826V exm471013 5 112173877 [G/C] NM_001127511,NM_001127510,NM_000038 APC,APC,APC EXON Missense_N844K,Missense_N862K,Missense_N862K exm471014 5 112173884 [T/C] NM_001127511,NM_001127510,NM_000038 APC,APC,APC EXON Missense_P847S,Missense_P865S,Missense_P865S exm471015 5 112173899 [T/C] NM_001127511,NM_001127510,NM_000038 APC,APC,APC EXON Missense_P852S,Missense_P870S,Missense_P870S exm471021 5 112174138 [T/G] NM_001127511,NM_001127510,NM_000038 APC,APC,APC EXON Missense_M931I,Missense_M949I,Missense_M949I exm471026 5 112174464 [A/G] NM_001127511,NM_001127510,NM_000038 APC,APC,APC EXON Missense_D1040G,Missense_D1058G,Missense_D1058G exm2083937 5 112174540 [T/G] NM_001127511,NM_001127510,NM_000038 APC,APC,APC EXON Missense_D1065E,Missense_D1083E,Missense_D1083E exm471029 5 112174614 [A/G] NM_001127511,NM_001127510,NM_000038 APC,APC,APC EXON Missense_N1090S,Missense_N1108S,Missense_N1108S exm471031 5 112174677 [T/C] NM_001127511,NM_001127510,NM_000038 APC,APC,APC EXON Missense_L1111S,Missense_L1129S,Missense_L1129S exm471038 5 112174802 [T/C] NM_001127511,NM_001127510,NM_000038 APC,APC,APC EXON Missense_R1153C,Missense_R1171C,Missense_R1171C exm471044 5 112174941 [A/C] NM_001127511,NM_001127510,NM_000038 APC,APC,APC EXON Missense_N1199T,Missense_N1217T,Missense_N1217T exm471048 5 112175030 [A/G] NM_001127511,NM_001127510,NM_000038 APC,APC,APC EXON Missense_A1229T,Missense_A1247T,Missense_A1247T exm471054 5 112175211 [T/A] NM_001127511,NM_001127510,NM_000038 APC,APC,APC EXON Missense_I1289K,Missense_I1307K,Missense_I1307K exm471056 5 112175240 [G/C] NM_001127511,NM_001127510,NM_000038 APC,APC,APC EXON Missense_E1299Q,Missense_E1317Q,Missense_E1317Q exm471061 5 112175363 [A/G] NM_001127511,NM_001127510,NM_000038 APC,APC,APC EXON Missense_A1340T,Missense_A1358T,Missense_A1358T exm471068 5 112175528 [A/G] NM_001127511,NM_001127510,NM_000038 APC,APC,APC EXON Missense_M1395V,Missense_M1413V,Missense_M1413V exm471069 5 112175540 [A/C] NM_001127511,NM_001127510,NM_000038 APC,APC,APC EXON Missense_I1399L,Missense_I1417L,Missense_I1417L exm471074 5 112175627 [A/G] NM_001127511,NM_001127510,NM_000038 APC,APC,APC EXON Missense_A1428T,Missense_A1446T,Missense_A1446T exm471077 5 112175663 [T/C] NM_001127511,NM_001127510,NM_000038 APC,APC,APC EXON Missense_P1440S,Missense_P1458S,Missense_P1458S exm471080 5 112175711 [A/G] NM_001127511,NM_001127510,NM_000038 APC,APC,APC EXON Missense_A1456T,Missense_A1474T,Missense_A1474T exm471094 5 112176300 [T/C] NM_001127511,NM_001127510,NM_000038 APC,APC,APC EXON Missense_A1652V,Missense_A1670V,Missense_A1670V exm471096 5 112176318 [C/G] NM_001127511,NM_001127510,NM_000038 APC,APC,APC EXON Missense_R1658T,Missense_R1676T,Missense_R1676T exm471100 5 112176431 [A/G] NM_001127511,NM_001127510,NM_000038 APC,APC,APC EXON Missense_D1696N,Missense_D1714N,Missense_D1714N exm471115 5 112176756 [T/A] NM_001127511,NM_001127510,NM_000038 APC,APC,APC EXON Missense_V1804D,Missense_V1822D,Missense_V1822D exm2241528 5 112176797 [A/G] NM_001127511,NM_001127510,NM_000038 APC,APC,APC EXON Missense_G1818R,Missense_G1836R,Missense_G1836R exm471139 5 112177464 [A/G] NM_001127511,NM_001127510,NM_000038 APC,APC,APC EXON Missense_G2040D,Missense_G2058D,Missense_G2058D exm471155 5 112178112 [T/C] NM_001127511,NM_001127510,NM_000038 APC,APC,APC EXON Missense_A2256V,Missense_A2274V,Missense_A2274V exm471157 5 112178148 [T/C] NM_001127511,NM_001127510,NM_000038 APC,APC,APC EXON Missense_A2268V,Missense_A2286V,Missense_A2286V exm471159 5 112178164 [T/A] NM_001127511,NM_001127510,NM_000038 APC,APC,APC EXON Missense_Q2273H,Missense_Q2291H,Missense_Q2291H exm471163 5 112178276 [A/G] NM_001127511,NM_001127510,NM_000038 APC,APC,APC EXON Missense_I2311V,Missense_I2329V,Missense_I2329V exm471165 5 112178327 [T/C] NM_001127511,NM_001127510,NM_000038 APC,APC,APC EXON Missense_P2328S,Missense_P2346S,Missense_P2346S exm2256857 5 112178492 [T/C] NM_001127511,NM_001127510,NM_000038 APC,APC,APC EXON Synonymous_L2383L,Synonymous_L2401L,Synonymous_L2401L exm471183 5 112178781 [T/C] NM_001127511,NM_001127510,NM_000038 APC,APC,APC EXON Missense_S2479L,Missense_S2497L,Missense_S2497L exm471184 5 112178795 [A/G] NM_001127511,NM_001127510,NM_000038 APC,APC,APC EXON Missense_G2484S,Missense_G2502S,Missense_G2502S exm471186 5 112178805 [A/G] NM_001127511,NM_001127510,NM_000038 APC,APC,APC EXON Missense_R2487Q,Missense_R2505Q,Missense_R2505Q exm471191 5 112178916 [A/G] NM_001127511,NM_001127510,NM_000038 APC,APC,APC EXON Missense_N2524S,Missense_N2542S,Missense_N2542S exm471193 5 112179008 [A/G] NM_001127511,NM_001127510,NM_000038 APC,APC,APC EXON Missense_I2555V,Missense_I2573V,Missense_I2573V exm471197 5 112179153 [C/G] NM_001127511,NM_001127510,NM_000038 APC,APC,APC EXON Missense_S2603C,Missense_S2621C,Missense_S2621C exm2083973 5 112179333 [T/C] NM_001127511,NM_001127510,NM_000038 APC,APC,APC EXON Missense_P2663L,Missense_P2681L,Missense_P2681L exm471207 5 112179359 [A/G] NM_001127511,NM_001127510,NM_000038 APC,APC,APC EXON Missense_A2672T,Missense_A2690T,Missense_A2690T exm471212 5 112179557 [A/G] NM_001127511,NM_001127510,NM_000038 APC,APC,APC EXON Missense_I2738V,Missense_I2756V,Missense_I2756V exm471213 5 112179680 [A/G] NM_001127511,NM_001127510,NM_000038 APC,APC,APC EXON Missense_S2779G,Missense_S2797G,Missense_S2797G exm471232 5 112198206 [T/G] NM_001204199,NM_001204196,NM_003135,NM_001204194,NM_001204193 SRP19,SRP19,SRP19,SRP19,SRP19 EXON Missense_F15V,Silent,Missense_F15V,Missense_F15V,Missense_F15V exm471237 5 112198276 [A/G] NM_001204199,NM_001204196,NM_003135,NM_001204194,NM_001204193 SRP19,SRP19,SRP19,SRP19,SRP19 EXON Missense_S38N,Silent,Missense_S38N,Missense_S38N,Missense_S38N exm471243 5 112200359 [A/G] NM_001204199,NM_001204196,NM_003135,NM_001204194,NM_001204193 SRP19,SRP19,SRP19,SRP19,SRP19 EXON Synonymous_Q77Q,Missense_N52S,Synonymous_Q77Q,Synonymous_Q53Q,Synonymous_Q77Q exm471259 5 112222787 [T/C] NM_001204199,NM_005669 SRP19,REEP5 EXON Silent,Missense_E149K exm-rs469727 5 112242968 [T/C] NM_005669 REEP5 Silent exm471273 5 112256903 [G/C] NM_005669 REEP5 EXON Missense_L57V exm471287 5 112312655 [T/C] NM_001242377,NM_152624,NR_038352 DCP2,DCP2,DCP2 EXON Missense_P9S,Missense_P9S,Silent exm471289 5 112312676 [T/C] NM_001242377,NM_152624,NR_038352 DCP2,DCP2,DCP2 EXON Missense_F16L,Missense_F16L,Silent exm471304 5 112327868 [C/G] NM_001242377,NM_152624,NR_038352 DCP2,DCP2,DCP2 EXON Missense_V86L,Missense_V86L,Silent exm2256858 5 112349070 [T/C] NM_001242377,NM_152624,NR_038352 DCP2,DCP2,DCP2 EXON Synonymous_A349A,Synonymous_A384A,Silent exm471344 5 112349083 [A/G] NM_001242377,NM_152624,NR_038352 DCP2,DCP2,DCP2 EXON Missense_V354M,Missense_V389M,Silent exm2273410 5 112349297 [T/C] NM_001242377,NM_152624,NR_038352 DCP2,DCP2,DCP2 EXON Silent,Silent,Silent exm471373 5 112364689 [A/T] NM_001085377,NM_002387 MCC,MCC EXON Missense_S941C,Missense_S751C exm2256859 5 112366678 [A/G] NM_001085377,NM_002387 MCC,MCC Silent,Silent exm471388 5 112384791 [T/A] NM_001085377,NM_002387 MCC,MCC EXON Missense_K885M,Missense_K695M exm471396 5 112384917 [T/C] NM_001085377,NM_002387 MCC,MCC EXON Missense_R843Q,Missense_R653Q exm2256860 5 112389629 [A/G] NM_001085377,NM_002387 MCC,MCC EXON Synonymous_C747C,Synonymous_C557C exm471422 5 112389656 [A/G] NM_001085377,NM_002387 MCC,MCC EXON Synonymous_S738S,Synonymous_S548S exm471434 5 112399817 [A/G] NM_001085377,NM_002387 MCC,MCC EXON Missense_H693Y,Missense_H503Y exm471435 5 112399822 [A/C] NM_001085377,NM_002387 MCC,MCC EXON Missense_R691L,Missense_R501L exm471438 5 112403779 [A/G] NM_001085377,NM_002387 MCC,MCC EXON Missense_P676L,Missense_P486L exm471446 5 112403854 [A/C] NM_001085377,NM_002387 MCC,MCC EXON Missense_L651R,Missense_L461R exm471447 5 112403870 [T/C] NM_001085377,NM_002387 MCC,MCC EXON Missense_I646V,Missense_I456V exm471452 5 112406790 [C/G] NM_001085377,NM_002387 MCC,MCC Silent,Silent exm471487 5 112420977 [T/C] NM_001085377,NM_002387 MCC,MCC EXON Missense_V477M,Missense_V287M exm471493 5 112439912 [T/C] NM_001085377,NM_002387 MCC,MCC EXON Missense_E390K,Missense_E200K exm471497 5 112439941 [T/C] NM_001085377,NM_002387 MCC,MCC EXON Missense_K380R,Missense_K190R exm471506 5 112439993 [T/C] NM_001085377,NM_002387 MCC,MCC EXON Missense_V363I,Missense_V173I exm471517 5 112458479 [T/C] NM_001085377,NM_002387 MCC,MCC EXON Missense_S310N,Missense_S120N exm471519 5 112458489 [A/G] NM_001085377,NM_002387 MCC,MCC EXON Missense_L307F,Missense_L117F exm471521 5 112458515 [A/T] NM_001085377,NM_002387 MCC,MCC EXON Missense_D298V,Missense_D108V exm471523 5 112478919 [A/T] NM_001085377,NM_002387 MCC,MCC EXON Missense_I294F,Missense_I104F exm471527 5 112478937 [A/G] NM_001085377,NM_002387 MCC,MCC EXON Missense_R288C,Missense_R98C exm471538 5 112479043 [T/G] NM_001085377,NM_002387 MCC,MCC EXON Missense_H252Q,Missense_H62Q exm471539 5 112479049 [G/C] NM_001085377,NM_002387 MCC,MCC EXON Missense_Q250H,Missense_Q60H exm471540 5 112479054 [T/C] NM_001085377,NM_002387 MCC,MCC EXON Missense_E249K,Missense_E59K exm2261804 5 112550247 [A/G] NM_001085377,NM_002387 MCC,MCC Silent,Silent exm-rs17135515 5 112598947 [T/C] NM_001085377,NM_002387 MCC,MCC Silent,Silent exm471555 5 112676220 [T/C] NM_001085377 MCC EXON Missense_N208S exm471556 5 112676256 [T/C] NM_001085377 MCC EXON Missense_G196D exm471557 5 112676296 [T/C] NM_001085377 MCC EXON Missense_A183T exm471568 5 112720790 [T/C] NM_001085377 MCC EXON Missense_R97H exm-rs1318772 5 112723567 [A/G] NM_001085377 MCC Silent exm471578 5 112769459 [A/G] NM_001085377,NM_032028 MCC,TSSK1B EXON Silent,Nonsense_Q360X exm471584 5 112769494 [A/G] NM_001085377,NM_032028 MCC,TSSK1B EXON Silent,Missense_P348L exm471586 5 112769530 [G/C] NM_001085377,NM_032028 MCC,TSSK1B EXON Silent,Missense_S336C exm471594 5 112769651 [A/G] NM_001085377,NM_032028 MCC,TSSK1B EXON Silent,Missense_P296S exm471595 5 112769659 [T/C] NM_001085377,NM_032028 MCC,TSSK1B EXON Silent,Missense_G293E exm471598 5 112769675 [A/C] NM_001085377,NM_032028 MCC,TSSK1B EXON Silent,Missense_G288W exm471604 5 112769828 [A/G] NM_001085377,NM_032028 MCC,TSSK1B EXON Silent,Missense_R237C exm471605 5 112769840 [C/G] NM_001085377,NM_032028 MCC,TSSK1B EXON Silent,Missense_V233L exm471613 5 112769951 [T/C] NM_001085377,NM_032028 MCC,TSSK1B EXON Silent,Missense_V196M exm471618 5 112769998 [A/G] NM_001085377,NM_032028 MCC,TSSK1B EXON Silent,Missense_A180V exm471622 5 112770049 [T/C] NM_001085377,NM_032028 MCC,TSSK1B EXON Silent,Missense_R163Q exm471623 5 112770050 [A/G] NM_001085377,NM_032028 MCC,TSSK1B EXON Silent,Missense_R163W exm471632 5 112770197 [A/G] NM_001085377,NM_032028 MCC,TSSK1B EXON Silent,Missense_R114C exm471634 5 112770224 [A/G] NM_001085377,NM_032028 MCC,TSSK1B EXON Silent,Missense_R105W exm2084137 5 112770290 [A/G] NM_001085377,NM_032028 MCC,TSSK1B EXON Silent,Missense_H83Y exm471640 5 112770341 [T/C] NM_001085377,NM_032028 MCC,TSSK1B EXON Silent,Missense_M66V exm471643 5 112770365 [A/G] NM_001085377,NM_032028 MCC,TSSK1B EXON Silent,Missense_P58S exm471647 5 112770440 [A/G] NM_001085377,NM_032028 MCC,TSSK1B EXON Silent,Missense_R33C exm471651 5 112770527 [T/C] NM_001085377,NM_032028 MCC,TSSK1B EXON Silent,Missense_A4T exm471652 5 112823961 [G/C] NM_001085377 MCC EXON Missense_G51R exm2270111 5 112823998 [T/C] NM_001085377 MCC EXON Synonymous_E38E exm471663 5 112824045 [T/C] NM_001085377 MCC EXON Missense_G23S exm2241533 5 112849608 [A/T] NM_022828 YTHDC2 EXON Missense_S6C exm471671 5 112849627 [T/C] NM_022828 YTHDC2 EXON Missense_P12L exm471680 5 112851022 [A/C] NM_022828 YTHDC2 EXON Missense_L81I exm471686 5 112860821 [A/G] NM_022828 YTHDC2 EXON Missense_R141H exm471693 5 112862441 [G/C] NM_022828 YTHDC2 EXON Missense_V212L exm471695 5 112868579 [T/C] NM_022828 YTHDC2 EXON Missense_P227S exm471699 5 112868684 [A/G] NM_022828 YTHDC2 EXON Missense_A262T exm471701 5 112868694 [A/G] NM_022828 YTHDC2 EXON Missense_R265Q exm471709 5 112870076 [T/C] NM_022828 YTHDC2 EXON Missense_T306M exm471714 5 112871363 [T/C] NM_022828 YTHDC2 EXON Missense_F324L exm471721 5 112874802 [A/G] NM_022828 YTHDC2 EXON Missense_M378I exm471723 5 112874834 [T/A] NM_022828 YTHDC2 EXON Missense_Y389F exm471748 5 112888882 [A/T] NM_022828 YTHDC2 EXON Missense_T565S exm471755 5 112889290 [G/C] NM_022828 YTHDC2 EXON Missense_A624G exm471759 5 112889370 [G/C] NM_022828 YTHDC2 EXON Missense_D651H exm471760 5 112889374 [A/G] NM_022828 YTHDC2 EXON Missense_S652N exm471761 5 112889380 [A/G] NM_022828 YTHDC2 EXON Missense_H654R exm471764 5 112889515 [A/C] NM_022828 YTHDC2 EXON Missense_K672N exm2084189 5 112899175 [A/G] NM_022828 YTHDC2 EXON Missense_V810I exm471794 5 112899752 [A/G] NM_022828 YTHDC2 EXON Missense_R880H exm471795 5 112899767 [C/G] NM_022828 YTHDC2 EXON Missense_C885S exm471814 5 112903364 [A/G] NM_022828 YTHDC2 EXON Missense_N1021S exm471815 5 112903383 [T/G] NM_022828 YTHDC2 EXON Missense_I1027M exm471819 5 112903482 [A/G] NM_022828 YTHDC2 EXON Missense_I1060M exm471821 5 112915301 [A/G] NM_022828 YTHDC2 EXON Missense_D1088G exm471824 5 112915373 [A/G] NM_022828 YTHDC2 EXON Missense_H1112R exm471826 5 112917125 [A/T] NM_022828 YTHDC2 EXON Missense_L1122F exm471828 5 112917153 [A/G] NM_022828 YTHDC2 EXON Missense_S1132G exm471845 5 112920102 [T/C] NM_022828 YTHDC2 EXON Missense_S1251P exm471847 5 112920108 [G/C] NM_022828 YTHDC2 EXON Missense_L1253V exm471851 5 112926768 [A/G] NM_022828 YTHDC2 EXON Missense_M1286V exm471854 5 112926913 [A/T] NM_022828 YTHDC2 EXON Missense_F1334Y exm471866 5 112929013 [A/T] NM_022828 YTHDC2 EXON Missense_L1409Q exm471868 5 112929048 [T/C] NM_022828 YTHDC2 EXON Missense_L1421F exm-rs17135859 5 112996654 [T/C] exm-rs4621553 5 113030164 [A/G] exm2270237 5 113072475 [T/C] exm2241540 5 113698813 [A/G] NM_021614 KCNN2 EXON Missense_N114S exm2256863 5 113801423 [A/G] NM_021614,NM_170775 KCNN2,KCNN2 Silent,Silent exm2084245 5 113831648 [C/G] NM_021614,NM_170775 KCNN2,KCNN2 EXON Missense_F503L,Missense_F155L exm471928 5 113831758 [T/C] NM_021614,NM_170775 KCNN2,KCNN2 EXON Missense_I540T,Missense_I192T exm-rs10071490 5 113940187 [A/G] exm2241542 5 114462214 [C/G] NM_018700 TRIM36 EXON Missense_Q725E exm471939 5 114462240 [T/G] NM_018700 TRIM36 EXON Missense_P716H exm471941 5 114462297 [T/C] NM_018700 TRIM36 EXON Missense_H697R exm471942 5 114462310 [G/C] NM_018700 TRIM36 EXON Missense_V693L exm471946 5 114462355 [T/C] NM_018700 TRIM36 EXON Missense_D678N exm471956 5 114466290 [T/G] NM_018700 TRIM36 EXON Synonymous_R611R exm471959 5 114466343 [A/G] NM_018700 TRIM36 EXON Missense_S593F exm471962 5 114466422 [T/C] NM_018700 TRIM36 EXON Missense_T567A exm471979 5 114469724 [T/C] NM_018700 TRIM36 EXON Missense_N456S exm471982 5 114469808 [T/C] NM_018700 TRIM36 EXON Missense_K428R exm471987 5 114469836 [T/C] NM_018700 TRIM36 EXON Missense_V419M exm472000 5 114477062 [T/A] NM_018700 TRIM36 EXON Missense_S261T exm472007 5 114480435 [T/C] NM_018700 TRIM36 EXON Missense_M211V exm472015 5 114482982 [G/C] NM_018700 TRIM36 EXON Missense_F136L exm472016 5 114482990 [A/G] NM_018700 TRIM36 EXON Nonsense_R134X exm472032 5 114506846 [T/C] NM_018700,NM_001017397 TRIM36,TRIM36 EXON Silent,Missense_D46G exm472043 5 114515676 [T/C] NM_018700,NM_001017397,NM_001017398 TRIM36,TRIM36,TRIM36 EXON Missense_G20D,Missense_G20D,Missense_G20D exm472071 5 114577253 [A/G] NM_005023 PGGT1B EXON Missense_P104S exm472072 5 114577256 [T/C] NM_005023 PGGT1B EXON Missense_I103V exm472076 5 114588898 [T/A] NM_005023 PGGT1B EXON Missense_D65E exm472091 5 114604595 [C/G] NM_152549,NM_001040440 CCDC112,CCDC112 EXON Missense_L428V,Missense_L511V exm472092 5 114604633 [A/C] NM_152549,NM_001040440 CCDC112,CCDC112 EXON Missense_R415L,Missense_R498L exm472096 5 114605465 [T/C] NM_152549,NM_001040440 CCDC112,CCDC112 EXON Missense_D372N,Missense_D455N exm472101 5 114607019 [T/C] NM_152549,NM_001040440 CCDC112,CCDC112 EXON Missense_K325R,Missense_K408R exm472104 5 114607064 [T/C] NM_152549,NM_001040440 CCDC112,CCDC112 EXON Missense_R310H,Missense_R393H exm472112 5 114607217 [A/T] NM_152549,NM_001040440 CCDC112,CCDC112 EXON Missense_D259V,Missense_D342V exm472115 5 114607257 [T/C] NM_152549,NM_001040440 CCDC112,CCDC112 EXON Missense_A246T,Missense_A329T exm472117 5 114607292 [T/C] NM_152549,NM_001040440 CCDC112,CCDC112 EXON Missense_Q234R,Missense_Q317R exm472125 5 114611151 [T/C] NM_152549,NM_001040440 CCDC112,CCDC112 EXON Missense_S144N,Missense_S227N exm472150 5 114632206 [G/C] NM_001040440 CCDC112 EXON Missense_A12G exm472167 5 114860446 [A/C] NM_020177 FEM1C EXON Missense_R471S exm2241548 5 114860513 [A/G] NM_020177 FEM1C EXON Missense_I449T exm472186 5 114861137 [T/C] NM_020177 FEM1C EXON Missense_K241R exm472194 5 114879101 [G/C] NM_020177 FEM1C EXON Missense_E30D exm472204 5 114916295 [C/G] NM_021649,NM_001164468,NM_001164469 TICAM2,TMED7-TICAM2,TMED7-TICAM2 EXON Missense_T220S,Missense_T389S,Missense_N428K exm2256866 5 114916312 [T/C] NM_021649,NM_001164468,NM_001164469 TICAM2,TMED7-TICAM2,TMED7-TICAM2 EXON Synonymous_V214V,Synonymous_V383V,Missense_V423I exm472213 5 114916473 [T/C] NM_021649,NM_001164468,NM_001164469 TICAM2,TMED7-TICAM2,TMED7-TICAM2 EXON Missense_V161I,Missense_V330I,Missense_R369H exm2275813 5 114916640 [A/C] NM_021649,NM_001164468,NM_001164469 TICAM2,TMED7-TICAM2,TMED7-TICAM2 EXON Missense_G105V,Missense_G274V,Missense_W313C exm472225 5 114916755 [A/C] NM_021649,NM_001164468,NM_001164469 TICAM2,TMED7-TICAM2,TMED7-TICAM2 EXON Nonsense_E67X,Nonsense_E236X,Missense_R275I exm472227 5 114916763 [T/C] NM_021649,NM_001164468,NM_001164469 TICAM2,TMED7-TICAM2,TMED7-TICAM2 EXON Missense_S64N,Missense_S233N,Synonymous_E272E exm472241 5 114961396 [A/C] NM_001164468,NM_001164469,NM_181836 TMED7-TICAM2,TMED7-TICAM2,TMED7 EXON Missense_G32C,Missense_G32C,Missense_G32C exm2265996 5 114974122 [A/G] exm472262 5 115142153 [A/T] NM_001801 CDO1 EXON Missense_L156M exm472275 5 115151969 [T/G] NM_001801 CDO1 EXON Missense_S42R exm472287 5 115167503 [T/A] NR_073605,NM_004707,NR_073604,NR_033362,NR_033363,NR_073603 ATG12,ATG12,ATG12,ATG12,ATG12,ATG12 EXON Silent,Missense_X141R,Silent,Silent,Silent,Silent exm2241552 5 115173345 [G/C] NR_073605,NM_004707,NR_073604,NR_033362,NR_033363,NR_073603 ATG12,ATG12,ATG12,ATG12,ATG12,ATG12 EXON Silent,Missense_L94V,Silent,Silent,Silent,Silent exm2261808 5 115175503 [A/G] NR_073605,NM_004707,NR_073604,NR_033362,NR_033363,NR_073603 ATG12,ATG12,ATG12,ATG12,ATG12,ATG12 Silent,Silent,Silent,Silent,Silent,Silent exm2265997 5 115175701 [A/G] NR_073605,NM_004707,NR_073604,NR_033362,NR_033363,NR_073603 ATG12,ATG12,ATG12,ATG12,ATG12,ATG12 Silent,Silent,Silent,Silent,Silent,Silent exm472311 5 115177207 [T/C] NR_073605,NM_004707,NR_073604,NR_033362,NR_033363,NR_073603 ATG12,ATG12,ATG12,ATG12,ATG12,ATG12 EXON Silent,Missense_I15V,Silent,Silent,Silent,Silent exm2084398 5 115177233 [A/T] NR_073605,NM_004707,NR_073604,NR_033362,NR_033363,NR_073603 ATG12,ATG12,ATG12,ATG12,ATG12,ATG12 EXON Silent,Missense_Q6L,Silent,Silent,Silent,Silent exm2084407 5 115177768 [A/G] NM_001284 AP3S1 EXON Missense_G12R exm472330 5 115205714 [A/G] NM_001284 AP3S1 EXON Synonymous_L54L exm-rs3797569 5 115208843 [A/G] NM_001284 AP3S1 Silent exm472339 5 115238589 [A/G] NM_001284 AP3S1 EXON Missense_N118S exm472351 5 115249059 [A/G] NM_001284 AP3S1 EXON Missense_A152T exm472364 5 115298417 [T/G] NM_173800 AQPEP EXON Missense_A35S exm472369 5 115298503 [G/C] NM_173800 AQPEP EXON Missense_R63S exm472378 5 115298681 [A/G] NM_173800 AQPEP EXON Missense_G123R exm2084423 5 115298726 [A/T] NM_173800 AQPEP EXON Missense_T138S exm472393 5 115298898 [T/C] NM_173800 AQPEP EXON Missense_P195L exm472395 5 115298929 [T/G] NM_173800 AQPEP EXON Missense_Q205H exm472405 5 115319078 [A/G] NM_173800 AQPEP EXON Missense_M264V exm472415 5 115323513 [T/C] NM_173800 AQPEP EXON Missense_R328C exm472416 5 115323514 [A/G] NM_173800 AQPEP EXON Missense_R328H exm472418 5 115323557 [G/C] NM_173800 AQPEP EXON Missense_D342E exm472419 5 115323568 [A/C] NM_173800 AQPEP EXON Missense_N346T exm472430 5 115327964 [T/C] NM_173800 AQPEP EXON Missense_I417T exm472435 5 115329529 [A/G] NM_173800 AQPEP EXON Missense_Y451C exm472439 5 115335543 [A/G] NM_173800 AQPEP EXON Missense_E487K exm472452 5 115336353 [A/G] NM_173800 AQPEP EXON Missense_M549V exm472455 5 115336779 [A/G] NM_173800 AQPEP EXON Missense_S555G exm472460 5 115336893 [T/C] NM_173800 AQPEP EXON Missense_F593L exm472462 5 115336914 [A/G] NM_173800 AQPEP EXON Missense_N600D exm472463 5 115336917 [T/C] NM_173800 AQPEP EXON Missense_R601W exm472464 5 115338534 [A/C] NM_173800 AQPEP EXON Missense_D608A exm472467 5 115338958 [T/G] NM_173800 AQPEP EXON Missense_V640F exm472473 5 115341638 [G/C] NM_173800 AQPEP EXON Missense_L689F exm472474 5 115341649 [T/C] NM_173800 AQPEP EXON Missense_A693V exm472480 5 115346567 [G/C] NM_173800 AQPEP EXON Missense_I741M exm2084465 5 115348102 [A/G] NM_173800 AQPEP EXON Nonsense_W760X exm2084466 5 115348119 [A/G] NM_173800 AQPEP EXON Missense_I766V exm472487 5 115350190 [A/C] NM_173800 AQPEP EXON Missense_L806I exm472488 5 115350212 [A/G] NM_173800 AQPEP EXON Missense_H813R exm472497 5 115351079 [A/G] NM_173800 AQPEP EXON Missense_A861T exm472499 5 115351411 [A/G] NM_173800 AQPEP EXON Missense_R902Q exm472507 5 115358116 [A/G] NM_173800 AQPEP EXON Missense_I929V exm472509 5 115358137 [A/G] NM_173800 AQPEP EXON Missense_V936I exm2241559 5 115394491 [G/C] NM_001195581 ARL14EPL EXON Missense_E102D exm472532 5 115423282 [A/G] NM_016144 COMMD10 EXON Missense_K44E exm472537 5 115426819 [T/C] NM_016144 COMMD10 EXON Missense_A59V exm472543 5 115428303 [C/G] NM_016144 COMMD10 EXON Missense_R102T exm472544 5 115428310 [G/C] NM_016144 COMMD10 EXON Missense_D104E exm472550 5 115428381 [T/G] NM_016144 COMMD10 EXON Missense_I128S exm472556 5 115469825 [A/C] NM_016144 COMMD10 EXON Missense_K154Q exm-rs7702057 5 115727838 [T/G] exm2264150 5 115733327 [A/C] exm2084509 5 115782397 [C/G] NM_020796 SEMA6A EXON Missense_R1002P exm472582 5 115782398 [A/G] NM_020796 SEMA6A EXON Missense_R1002C exm2256869 5 115782432 [A/G] NM_020796 SEMA6A EXON Synonymous_N990N exm472585 5 115782476 [T/G] NM_020796 SEMA6A EXON Missense_P976T exm472586 5 115782493 [T/G] NM_020796 SEMA6A EXON Missense_Q970P exm472600 5 115782795 [T/G] NM_020796 SEMA6A EXON Missense_N869K exm472606 5 115782947 [A/G] NM_020796 SEMA6A EXON Missense_P819S exm472610 5 115783019 [T/C] NM_020796 SEMA6A EXON Missense_G795S exm472614 5 115783100 [A/G] NM_020796 SEMA6A EXON Missense_R768W exm472644 5 115808770 [A/G] NM_020796 SEMA6A EXON Synonymous_N576N exm472647 5 115811248 [T/G] NM_020796 SEMA6A EXON Missense_D567E exm472649 5 115811273 [T/C] NM_020796 SEMA6A EXON Missense_R559H exm472656 5 115813578 [T/C] NM_020796 SEMA6A EXON Missense_E538G exm472657 5 115813726 [A/G] NM_020796 SEMA6A EXON Missense_Y518H exm472667 5 115815887 [A/G] NM_020796 SEMA6A EXON Missense_T394M exm2256870 5 115822447 [A/G] NM_020796 SEMA6A EXON Synonymous_N320N exm2256871 5 115824639 [A/G] NM_020796 SEMA6A EXON Synonymous_S200S exm472712 5 115837961 [T/C] NM_020796 SEMA6A EXON Missense_R55G exm2270113 5 116319808 [T/C] exm2256874 5 116752778 [A/C] NR_046089 LOC728342 Silent exm2264151 5 116968077 [A/C] exm2256875 5 117239454 [T/C] exm-rs10079352 5 117494640 [A/G] exm2270238 5 117912524 [T/G] exm2270115 5 117982046 [T/C] exm472731 5 118176773 [A/G] NM_173666 DTWD2 EXON Missense_R246C exm472732 5 118176782 [T/C] NM_173666 DTWD2 EXON Missense_T243A exm472733 5 118183823 [T/C] NM_173666 DTWD2 EXON Missense_A230T exm472735 5 118183865 [A/G] NM_173666 DTWD2 EXON Missense_P216S exm472739 5 118264246 [A/G] NM_173666 DTWD2 EXON Nonsense_R195X exm2084578 5 118264309 [T/C] NM_173666 DTWD2 EXON Missense_I174V exm472742 5 118264366 [T/C] NM_173666 DTWD2 EXON Missense_A155T exm472752 5 118280254 [A/C] NM_173666 DTWD2 EXON Missense_E103D exm472766 5 118324108 [G/C] NM_173666 DTWD2 EXON Missense_E33D exm472770 5 118324142 [T/C] NM_173666 DTWD2 EXON Missense_S22N exm472791 5 118433785 [A/G] NM_005509 DMXL1 EXON Missense_M67V exm472794 5 118437691 [A/G] NM_005509 DMXL1 EXON Missense_K92R exm2256877 5 118451873 [T/G] NM_005509 DMXL1 EXON Synonymous_V195V exm472808 5 118451896 [A/G] NM_005509 DMXL1 EXON Missense_R203Q exm472813 5 118451951 [T/G] NM_005509 DMXL1 EXON Missense_I221M exm472820 5 118454596 [T/C] NM_005509 DMXL1 EXON Missense_L277S exm472821 5 118454599 [T/C] NM_005509 DMXL1 EXON Missense_L278P exm472827 5 118456697 [A/G] NM_005509 DMXL1 EXON Missense_R322K exm472846 5 118468862 [A/C] NM_005509 DMXL1 EXON Missense_P451T exm472856 5 118469294 [A/C] NM_005509 DMXL1 EXON Missense_I559L exm472858 5 118469331 [A/G] NM_005509 DMXL1 EXON Missense_R571H exm2084636 5 118469414 [T/A] NM_005509 DMXL1 EXON Missense_M599L exm472864 5 118469457 [T/G] NM_005509 DMXL1 EXON Missense_V613G exm472866 5 118469468 [A/G] NM_005509 DMXL1 EXON Missense_E617K exm472870 5 118469561 [A/G] NM_005509 DMXL1 EXON Missense_V648I exm472871 5 118469645 [G/C] NM_005509 DMXL1 EXON Missense_L676V exm472874 5 118469679 [A/G] NM_005509 DMXL1 EXON Missense_N687S exm472888 5 118480316 [A/G] NM_005509 DMXL1 EXON Missense_S851N exm472901 5 118482970 [A/G] NM_005509 DMXL1 EXON Missense_E906K exm472904 5 118483001 [A/C] NM_005509 DMXL1 EXON Missense_S916Y exm472916 5 118484611 [T/C] NM_005509 DMXL1 EXON Missense_I1030T exm472919 5 118484637 [A/T] NM_005509 DMXL1 EXON Missense_S1039C exm472920 5 118484640 [A/G] NM_005509 DMXL1 EXON Missense_I1040V exm472928 5 118484821 [A/G] NM_005509 DMXL1 EXON Missense_D1100G exm472930 5 118484841 [T/G] NM_005509 DMXL1 EXON Missense_D1107Y exm472934 5 118484920 [A/C] NM_005509 DMXL1 EXON Missense_T1133K exm472949 5 118485204 [A/G] NM_005509 DMXL1 EXON Missense_V1228M exm472952 5 118485238 [C/G] NM_005509 DMXL1 EXON Missense_C1239S exm472954 5 118485256 [A/C] NM_005509 DMXL1 EXON Missense_S1245Y exm472956 5 118485270 [A/G] NM_005509 DMXL1 EXON Missense_V1250I exm472960 5 118485333 [T/C] NM_005509 DMXL1 EXON Missense_S1271P exm2275816 5 118485802 [A/G] NM_005509 DMXL1 EXON Missense_S1427N exm472976 5 118485949 [A/G] NM_005509 DMXL1 EXON Missense_Y1476C exm472985 5 118487729 [A/C] NM_005509 DMXL1 EXON Missense_Q1567P exm472987 5 118500264 [A/G] NM_005509 DMXL1 EXON Missense_M1589V exm472988 5 118500288 [A/G] NM_005509 DMXL1 EXON Missense_D1597N exm472992 5 118500354 [C/G] NM_005509 DMXL1 EXON Missense_R1619G exm472997 5 118502365 [T/G] NM_005509 DMXL1 EXON Missense_E1675D exm473013 5 118503449 [A/G] NM_005509 DMXL1 EXON Missense_N1763S exm473017 5 118505962 [T/C] NM_005509 DMXL1 EXON Missense_R1826C exm473018 5 118505977 [A/T] NM_005509 DMXL1 EXON Missense_S1831T exm473026 5 118506154 [A/C] NM_005509 DMXL1 EXON Missense_P1890T exm473028 5 118506179 [T/C] NM_005509 DMXL1 EXON Missense_L1898P exm473029 5 118506184 [A/T] NM_005509 DMXL1 EXON Missense_T1900S exm473031 5 118506263 [A/G] NM_005509 DMXL1 EXON Missense_Q1926R exm473037 5 118506377 [T/C] NM_005509 DMXL1 EXON Missense_L1964S exm473039 5 118506433 [A/G] NM_005509 DMXL1 EXON Missense_M1983V exm473041 5 118506442 [G/C] NM_005509 DMXL1 EXON Missense_L1986V exm473043 5 118506463 [A/C] NM_005509 DMXL1 EXON Missense_T1993P exm473044 5 118506484 [A/G] NM_005509 DMXL1 EXON Missense_I2000V exm473049 5 118506685 [A/G] NM_005509 DMXL1 EXON Missense_V2067M exm473065 5 118507599 [G/C] NM_005509 DMXL1 EXON Missense_H2206D exm2084696 5 118507608 [T/C] NM_005509 DMXL1 EXON Missense_L2209F exm473075 5 118513113 [T/C] NM_005509 DMXL1 EXON Missense_P2274S exm473088 5 118513876 [A/G] NM_005509 DMXL1 EXON Missense_A2358T exm473095 5 118525472 [A/C] NM_005509 DMXL1 EXON Missense_E2402A exm473106 5 118529578 [A/G] NM_005509 DMXL1 EXON Missense_G2457E exm473107 5 118529595 [A/G] NM_005509 DMXL1 EXON Missense_N2463D exm473108 5 118529596 [A/G] NM_005509 DMXL1 EXON Missense_N2463S exm473111 5 118532086 [T/C] NM_005509 DMXL1 EXON Missense_A2493V exm2256878 5 118533499 [A/G] NM_005509 DMXL1 EXON Synonymous_Q2531Q exm473123 5 118533576 [T/C] NM_005509 DMXL1 EXON Missense_A2557V exm473128 5 118539031 [T/C] NM_005509 DMXL1 EXON Missense_A2588V exm473136 5 118552596 [A/G] NM_005509 DMXL1 EXON Missense_I2622V exm473144 5 118556660 [A/G] NM_005509 DMXL1 EXON Missense_A2700T exm473150 5 118556760 [A/G] NM_005509 DMXL1 EXON Missense_G2733D exm2241571 5 118580203 [A/G] NM_005509 DMXL1 EXON Missense_V2931I exm2261812 5 118636227 [A/G] NM_001077654 TNFAIP8 Silent exm2256879 5 118655470 [T/G] NM_001077654 TNFAIP8 Silent exm2084741 5 118728816 [A/G] NM_001077654,NM_014350 TNFAIP8,TNFAIP8 EXON Missense_R164H,Missense_V113M exm473203 5 118729068 [A/G] NM_001077654,NM_014350 TNFAIP8,TNFAIP8 EXON Missense_E248G,Missense_N197D exm473207 5 118788316 [A/G] NM_000414,NM_001199292,NM_001199291 HSD17B4,HSD17B4,HSD17B4 EXON Missense_G16S,Missense_G16S,Silent exm2084750 5 118792045 [A/G] NM_000414,NM_001199292,NM_001199291 HSD17B4,HSD17B4,HSD17B4 EXON Missense_R32G,Silent,Missense_K35R exm473217 5 118810144 [T/G] NM_000414,NM_001199292,NM_001199291 HSD17B4,HSD17B4,HSD17B4 EXON Missense_F90C,Missense_F72C,Missense_F115C exm473225 5 118811533 [A/G] NM_000414,NM_001199292,NM_001199291 HSD17B4,HSD17B4,HSD17B4 EXON Missense_R106H,Missense_R88H,Missense_R131H exm473229 5 118813113 [T/A] NM_000414,NM_001199292,NM_001199291 HSD17B4,HSD17B4,HSD17B4 EXON Missense_D117E,Missense_D99E,Missense_D142E exm473233 5 118813182 [A/T] NM_000414,NM_001199292,NM_001199291 HSD17B4,HSD17B4,HSD17B4 EXON Missense_K140N,Missense_K122N,Missense_K165N exm473258 5 118835058 [T/C] NM_000414,NM_001199292,NM_001199291 HSD17B4,HSD17B4,HSD17B4 EXON Missense_T340M,Missense_T322M,Missense_T365M exm473259 5 118835097 [T/C] NM_000414,NM_001199292,NM_001199291 HSD17B4,HSD17B4,HSD17B4 EXON Missense_A353V,Missense_A335V,Missense_A378V exm473284 5 118850709 [A/G] NM_000414,NM_001199292,NM_001199291 HSD17B4,HSD17B4,HSD17B4 EXON Missense_A491T,Missense_A473T,Missense_A516T exm473287 5 118860938 [T/C] NM_000414,NM_001199292,NM_001199291 HSD17B4,HSD17B4,HSD17B4 EXON Missense_W511R,Missense_W493R,Missense_W536R exm473293 5 118861708 [A/T] NM_000414,NM_001199292,NM_001199291 HSD17B4,HSD17B4,HSD17B4 EXON Missense_K557M,Missense_K539M,Missense_K582M exm473294 5 118861713 [A/G] NM_000414,NM_001199292,NM_001199291 HSD17B4,HSD17B4,HSD17B4 EXON Missense_I559V,Missense_I541V,Missense_I584V exm2084786 5 118862832 [A/G] NM_000414,NM_001199292,NM_001199291 HSD17B4,HSD17B4,HSD17B4 EXON Missense_R562H,Missense_R544H,Missense_R587H exm473304 5 118867006 [T/C] NM_000414,NM_001199292,NM_001199291 HSD17B4,HSD17B4,HSD17B4 EXON Missense_R634C,Missense_R616C,Missense_R659C exm473319 5 118877616 [A/G] NM_000414,NM_001199292,NM_001199291 HSD17B4,HSD17B4,HSD17B4 EXON Missense_R713K,Missense_R695K,Missense_R738K exm473321 5 118877654 [C/G] NM_000414,NM_001199292,NM_001199291 HSD17B4,HSD17B4,HSD17B4 EXON Missense_L726V,Missense_L708V,Missense_L751V exm473322 5 118877660 [A/G] NM_000414,NM_001199292,NM_001199291 HSD17B4,HSD17B4,HSD17B4 EXON Missense_M728V,Missense_M710V,Missense_M753V exm2270117 5 118951870 [T/C] exm473335 5 118968565 [T/C] NM_001163991,NM_182761 FAM170A,FAM170A EXON Silent,Missense_R65C exm473345 5 118969755 [T/G] NM_001163991,NM_182761 FAM170A,FAM170A EXON Missense_L57F,Missense_L104F exm473350 5 118969821 [A/G] NM_001163991,NM_182761 FAM170A,FAM170A EXON Missense_M79I,Missense_M126I exm2084812 5 118969907 [A/G] NM_001163991,NM_182761 FAM170A,FAM170A EXON Missense_Q108R,Missense_Q155R exm473353 5 118969951 [T/G] NM_001163991,NM_182761 FAM170A,FAM170A EXON Missense_G123C,Missense_G170C exm473355 5 118969960 [T/C] NM_001163991,NM_182761 FAM170A,FAM170A EXON Missense_P126S,Missense_P173S exm473359 5 118970107 [G/C] NM_001163991,NM_182761 FAM170A,FAM170A EXON Missense_V175L,Missense_V222L exm473363 5 118970122 [A/G] NM_001163991,NM_182761 FAM170A,FAM170A EXON Missense_G180S,Missense_G227S exm473370 5 118970219 [T/A] NM_001163991,NM_182761 FAM170A,FAM170A EXON Missense_V212D,Missense_V259D exm473371 5 118970225 [A/G] NM_001163991,NM_182761 FAM170A,FAM170A EXON Missense_H214R,Missense_H261R exm473372 5 118970249 [T/G] NM_001163991,NM_182761 FAM170A,FAM170A EXON Missense_G222V,Missense_G269V exm2270239 5 119413303 [T/C] exm2256882 5 119600902 [A/G] exm-rs1375466 5 119999008 [T/C] NM_016644 PRR16 Silent exm473387 5 120021817 [A/C] NM_016644 PRR16 EXON Missense_P87T exm473389 5 120021839 [T/C] NM_016644 PRR16 EXON Missense_L94P exm473398 5 120021974 [T/G] NM_016644 PRR16 EXON Missense_G139V exm473399 5 120022006 [T/C] NM_016644 PRR16 EXON Missense_C150R exm473400 5 120022040 [T/C] NM_016644 PRR16 EXON Missense_V161A exm473403 5 120022105 [T/C] NM_016644 PRR16 EXON Missense_R183W exm473410 5 120022309 [A/T] NM_016644 PRR16 EXON Missense_S251C exm473411 5 120022318 [A/C] NM_016644 PRR16 EXON Missense_P254T exm2084823 5 120022321 [A/G] NM_016644 PRR16 EXON Missense_I255V exm2256883 5 120162357 [T/G] exm2270240 5 120254126 [T/C] exm2265999 5 120508561 [A/G] exm2256885 5 120958334 [T/C] exm2266114 5 121100484 [A/G] exm2241583 5 121188004 [A/C] NM_177478 FTMT EXON Missense_L116I exm2084854 5 121188042 [A/G] NM_177478 FTMT EXON Synonymous_K128K exm473432 5 121188063 [C/G] NM_177478 FTMT EXON Missense_Q135H exm473439 5 121188212 [A/G] NM_177478 FTMT EXON Missense_G185D exm473443 5 121188304 [C/G] NM_177478 FTMT EXON Missense_V216L exm473446 5 121188322 [A/G] NM_177478 FTMT EXON Missense_D222N exm473447 5 121188325 [T/G] NM_177478 FTMT EXON Missense_A223S exm473453 5 121297728 [A/G] NM_152546 SRFBP1 EXON Missense_M1V exm473458 5 121309945 [T/C] NM_152546 SRFBP1 EXON Missense_L31F exm473459 5 121309973 [T/C] NM_152546 SRFBP1 EXON Missense_S40L exm473463 5 121311051 [A/G] NM_152546 SRFBP1 EXON Missense_Q56R exm473469 5 121330324 [T/G] NM_152546 SRFBP1 EXON Missense_A77S exm473473 5 121355025 [T/A] NM_152546 SRFBP1 EXON Missense_D114V exm473480 5 121355909 [A/G] NM_152546 SRFBP1 EXON Missense_R160H exm473481 5 121355929 [A/G] NM_152546 SRFBP1 EXON Missense_E167K exm473486 5 121356095 [G/C] NM_152546 SRFBP1 EXON Missense_P222R exm2274085 5 121356164 [T/G] NM_152546 SRFBP1 EXON Missense_G245V exm473492 5 121356189 [A/T] NM_152546 SRFBP1 EXON Missense_F253L exm473493 5 121356223 [A/G] NM_152546 SRFBP1 EXON Missense_T265A exm473497 5 121356304 [T/C] NM_152546 SRFBP1 EXON Missense_R292W exm473498 5 121356311 [A/G] NM_152546 SRFBP1 EXON Missense_R294Q exm473501 5 121356350 [A/C] NM_152546 SRFBP1 EXON Missense_Q307P exm473502 5 121356355 [A/C] NM_152546 SRFBP1 EXON Missense_P309T exm473503 5 121356371 [T/C] NM_152546 SRFBP1 EXON Missense_F314S exm473505 5 121356403 [T/G] NM_152546 SRFBP1 EXON Missense_D325Y exm473520 5 121362786 [T/G] NM_152546 SRFBP1 EXON Missense_V419L exm473521 5 121362798 [A/G] NM_152546 SRFBP1 EXON Missense_K423E exm473523 5 121362815 [T/G] NM_152546 SRFBP1 EXON Missense_D428E exm473550 5 121413205 [T/G] NM_002317 LOX EXON Missense_P159Q exm473551 5 121413208 [T/C] NM_002317 LOX EXON Missense_R158Q exm473555 5 121413293 [A/G] NM_002317 LOX EXON Missense_S130P exm473574 5 121487765 [A/T] NM_207317 ZNF474 EXON Missense_I27N exm473577 5 121487789 [A/G] NM_207317 ZNF474 EXON Missense_S35N exm473580 5 121487823 [T/G] NM_207317 ZNF474 EXON Missense_E46D exm2277287 5 121487858 [T/C] NM_207317 ZNF474 EXON Missense_T58I exm473584 5 121487886 [A/G] NM_207317 ZNF474 EXON Missense_I67M exm473587 5 121487918 [T/C] NM_207317 ZNF474 EXON Missense_S78L exm473589 5 121487954 [A/G] NM_207317 ZNF474 EXON Missense_R90H exm473593 5 121487969 [A/G] NM_207317 ZNF474 EXON Missense_R95Q exm473594 5 121487971 [T/G] NM_207317 ZNF474 EXON Missense_V96L exm473601 5 121488148 [A/G] NM_207317 ZNF474 EXON Missense_E155K exm473605 5 121488203 [A/G] NM_207317 ZNF474 EXON Missense_R173H exm473608 5 121488280 [T/C] NM_207317 ZNF474 EXON Missense_S199P exm2241590 5 121488301 [A/T] NM_207317 ZNF474 EXON Missense_T206S exm473611 5 121488353 [T/C] NM_207317 ZNF474 EXON Missense_I223T exm473614 5 121488397 [A/G] NM_207317 ZNF474 EXON Missense_I238V exm473615 5 121488409 [A/G] NM_207317 ZNF474 EXON Missense_K242E exm473616 5 121488431 [T/C] NM_207317 ZNF474 EXON Missense_M249T exm473618 5 121488442 [T/C] NM_207317 ZNF474 EXON Missense_R253W exm473619 5 121488443 [A/G] NM_207317 ZNF474 EXON Missense_R253Q exm473622 5 121488461 [A/C] NM_207317 ZNF474 EXON Missense_H259P exm473624 5 121488466 [A/C] NM_207317 ZNF474 EXON Missense_P261T exm473627 5 121488506 [C/G] NM_207317 ZNF474 EXON Missense_S274C exm473631 5 121488560 [A/G] NM_207317 ZNF474 EXON Missense_R292Q exm-IND5-121516534 5 121488636 [I/D] NM_207317 ZNF474 EXON exm473637 5 121488667 [C/G] NM_207317 ZNF474 EXON Missense_E328Q exm2270120 5 121489122 [T/C] NM_207317 ZNF474 EXON Silent exm473642 5 121515248 [A/G] NM_001195535 LOC100505841 EXON Missense_T13A exm473643 5 121515258 [A/G] NM_001195535 LOC100505841 EXON Missense_R16Q exm473644 5 121515293 [T/C] NM_001195535 LOC100505841 EXON Missense_R28C exm2241592 5 121515424 [T/C] NM_001195535 LOC100505841 EXON Synonymous_T71T exm473646 5 121518309 [A/G] NM_001195535 LOC100505841 EXON Missense_R113Q exm2270241 5 121608963 [T/C] exm2241593 5 121739518 [G/C] NM_005460,NM_001242935 SNCAIP,SNCAIP EXON Missense_E30Q,Missense_Q14H exm2256887 5 121739541 [A/G] NM_005460,NM_001242935 SNCAIP,SNCAIP EXON Synonymous_T37T,Missense_R22H exm2084966 5 121758602 [T/C] NM_005460,NM_001242935 SNCAIP,SNCAIP EXON Missense_I57T,Silent exm473655 5 121758649 [T/C] NM_005460,NM_001242935 SNCAIP,SNCAIP EXON Missense_F73L,Silent exm473662 5 121758773 [A/G] NM_005460,NM_001242935 SNCAIP,SNCAIP EXON Missense_G114D,Silent exm473676 5 121759031 [T/C] NM_005460,NM_001242935 SNCAIP,SNCAIP EXON Missense_S200L,Silent exm473677 5 121759040 [A/G] NM_005460,NM_001242935 SNCAIP,SNCAIP EXON Missense_N203S,Silent exm473681 5 121759097 [T/C] NM_005460,NM_001242935 SNCAIP,SNCAIP EXON Missense_S222L,Silent exm473687 5 121759213 [A/C] NM_005460,NM_001242935 SNCAIP,SNCAIP EXON Missense_K261Q,Silent exm473705 5 121761192 [A/C] NM_005460,NM_001242935 SNCAIP,SNCAIP EXON Missense_T383N,Silent exm473710 5 121767686 [A/G] NM_005460,NM_001242935 SNCAIP,SNCAIP EXON Missense_R402H,Missense_R36H exm473716 5 121776345 [T/C] NM_005460,NM_001242935,NR_051996 SNCAIP,SNCAIP,MGC32805 EXON Missense_L440F,Missense_L74F,Silent exm473730 5 121785608 [A/G] NM_005460,NM_001242935,NR_051996 SNCAIP,SNCAIP,MGC32805 EXON Missense_G554D,Missense_G188D,Silent exm2084982 5 121786266 [A/C] NM_005460,NM_001242935,NR_051996 SNCAIP,SNCAIP,MGC32805 EXON Missense_K575T,Missense_K209T,Silent exm473733 5 121786358 [T/C] NM_005460,NM_001242935,NR_051996 SNCAIP,SNCAIP,MGC32805 EXON Missense_R606W,Missense_R240W,Silent exm473734 5 121786359 [A/G] NM_005460,NM_001242935,NR_051996 SNCAIP,SNCAIP,MGC32805 EXON Missense_R606Q,Missense_R240Q,Silent exm473735 5 121786403 [T/C] NM_005460,NM_001242935,NR_051996 SNCAIP,SNCAIP,MGC32805 EXON Missense_R621C,Missense_R255C,Silent exm473740 5 121786667 [C/G] NM_005460,NM_001242935,NR_051996 SNCAIP,SNCAIP,MGC32805 EXON Missense_E709Q,Missense_E343Q,Silent exm473741 5 121786673 [A/G] NM_005460,NM_001242935,NR_051996 SNCAIP,SNCAIP,MGC32805 EXON Missense_M711V,Missense_M345V,Silent exm473743 5 121786682 [A/G] NM_005460,NM_001242935,NR_051996 SNCAIP,SNCAIP,MGC32805 EXON Missense_A714T,Missense_A348T,Silent exm473745 5 121786734 [A/G] NM_005460,NM_001242935,NR_051996 SNCAIP,SNCAIP,MGC32805 EXON Missense_R731H,Missense_R365H,Silent exm2084987 5 121786833 [T/C] NM_005460,NM_001242935,NR_051996 SNCAIP,SNCAIP,MGC32805 EXON Missense_P764L,Missense_P398L,Silent exm473752 5 121786959 [A/G] NM_005460,NM_001242935,NR_051996 SNCAIP,SNCAIP,MGC32805 EXON Missense_R806H,Missense_R440H,Silent exm473794 5 122135429 [T/C] NM_003100 SNX2 EXON Missense_P90L exm473796 5 122135444 [A/G] NM_003100 SNX2 EXON Missense_E95G exm473804 5 122137594 [T/G] NM_003100 SNX2 EXON Missense_D141Y exm473805 5 122137595 [A/T] NM_003100 SNX2 EXON Missense_D141V exm473811 5 122143973 [T/G] NM_003100 SNX2 EXON Synonymous_G215G exm2085024 5 122154699 [A/G] NM_003100 SNX2 EXON Missense_R398H exm473868 5 122335651 [T/G] NM_014035 SNX24 EXON Missense_D98E exm473883 5 122359589 [A/G] NM_000943 PPIC EXON Missense_V207A exm473888 5 122359641 [T/C] NM_000943 PPIC EXON Missense_N190D exm473889 5 122359644 [T/C] NM_000943 PPIC EXON Missense_T189A exm2241595 5 122359668 [T/G] NM_000943 PPIC EXON Missense_T181P exm473891 5 122361517 [T/C] NM_000943 PPIC EXON Missense_G158S exm473899 5 122364538 [T/C] NM_000943 PPIC EXON Missense_K86R exm2085059 5 122364544 [T/C] NM_000943 PPIC EXON Missense_G84E exm473907 5 122365037 [T/C] NM_000943 PPIC EXON Missense_K65R exm473908 5 122365046 [A/G] NM_000943 PPIC EXON Missense_V62A exm473932 5 122435540 [A/G] NM_001136239 PRDM6 EXON Missense_I262V exm473935 5 122435627 [A/G] NM_001136239 PRDM6 EXON Missense_A291T exm2270122 5 122471989 [T/C] NM_001136239 PRDM6 Silent exm473937 5 122495225 [A/G] NM_001136239 PRDM6 EXON Missense_R349Q exm473940 5 122506469 [T/C] NM_001136239 PRDM6 EXON Missense_P388L exm473943 5 122506561 [A/G] NM_001136239 PRDM6 EXON Missense_V419I exm473945 5 122506607 [T/A] NM_001136239 PRDM6 EXON Missense_D434V exm-rs17470137 5 122531347 [A/G] exm2261817 5 122629266 [T/C] exm-rs1582931 5 122657199 [A/G] exm473955 5 122682248 [T/C] NM_001166226,NM_153223 CEP120,CEP120 EXON Missense_R950G,Missense_R976G exm473961 5 122682334 [T/C] NM_001166226,NM_153223 CEP120,CEP120 EXON Missense_R921H,Missense_R947H exm473968 5 122685717 [A/G] NM_001166226,NM_153223 CEP120,CEP120 EXON Missense_R857C,Missense_R883C exm473970 5 122685727 [C/G] NM_001166226,NM_153223 CEP120,CEP120 EXON Missense_Q853H,Missense_Q879H exm473971 5 122685731 [A/T] NM_001166226,NM_153223 CEP120,CEP120 EXON Missense_E852V,Missense_E878V exm473979 5 122708381 [T/C] NM_001166226,NM_153223 CEP120,CEP120 EXON Missense_R789H,Missense_R815H exm473984 5 122713092 [G/C] NM_001166226,NM_153223 CEP120,CEP120 EXON Missense_E752D,Missense_E778D exm473988 5 122713159 [T/C] NM_001166226,NM_153223 CEP120,CEP120 EXON Missense_R730H,Missense_R756H exm473990 5 122713191 [G/C] NM_001166226,NM_153223 CEP120,CEP120 EXON Missense_Q719H,Missense_Q745H exm473993 5 122714044 [T/C] NM_001166226,NM_153223 CEP120,CEP120 EXON Missense_S702G,Missense_S728G exm473995 5 122714092 [A/G] NM_001166226,NM_153223 CEP120,CEP120 EXON Missense_L686F,Missense_L712F exm473997 5 122714104 [G/C] NM_001166226,NM_153223 CEP120,CEP120 EXON Missense_L682V,Missense_L708V exm474014 5 122718736 [C/G] NM_001166226,NM_153223 CEP120,CEP120 EXON Missense_L576V,Missense_L602V exm474021 5 122720724 [T/C] NM_001166226,NM_153223 CEP120,CEP120 EXON Missense_T536A,Missense_T562A exm474046 5 122725693 [A/G] NM_001166226,NM_153223 CEP120,CEP120 EXON Missense_P368S,Missense_P394S exm474051 5 122725754 [G/C] NM_001166226,NM_153223 CEP120,CEP120 EXON Missense_K347N,Missense_K373N exm474052 5 122725761 [T/C] NM_001166226,NM_153223 CEP120,CEP120 EXON Missense_K345R,Missense_K371R exm474053 5 122725768 [A/G] NM_001166226,NM_153223 CEP120,CEP120 EXON Missense_P343S,Missense_P369S exm474066 5 122727015 [T/C] NM_001166226,NM_153223 CEP120,CEP120 EXON Missense_G250E,Missense_G276E exm474068 5 122729025 [T/C] NM_001166226,NM_153223 CEP120,CEP120 EXON Missense_R234H,Missense_R260H exm474084 5 122748194 [T/C] NM_001166226,NM_153223 CEP120,CEP120 EXON Missense_K95R,Missense_K121R exm474085 5 122748198 [T/C] NM_001166226,NM_153223 CEP120,CEP120 EXON Missense_T94A,Missense_T120A exm474094 5 122758665 [T/C] NM_001166226,NM_153223 CEP120,CEP120 EXON Silent,Missense_I10V exm-rs4530754 5 122855416 [A/G] NM_001270573,NM_001031812,NM_001270574 CSNK1G3,CSNK1G3,CSNK1G3 Silent,Silent,Silent exm474110 5 122909132 [A/G] NM_001270573,NM_001031812,NM_001270574,NM_001044723,NM_001270572,NM_004384 CSNK1G3,CSNK1G3,CSNK1G3,CSNK1G3,CSNK1G3,CSNK1G3 EXON Missense_N37S,Missense_N112S,Silent,Missense_N112S,Missense_N112S,Missense_N112S exm474128 5 122930734 [T/C] NM_001270573,NM_001031812,NM_001270574,NM_001044723,NM_001270572,NM_004384 CSNK1G3,CSNK1G3,CSNK1G3,CSNK1G3,CSNK1G3,CSNK1G3 EXON Silent,Silent,Silent,Missense_S363L,Silent,Missense_S363L exm-rs11241713 5 123119565 [A/C] exm2270123 5 123401074 [T/C] exm2264152 5 123534021 [A/C] exm-rs949974 5 123853591 [T/G] exm474158 5 123977074 [A/G] NM_020747 ZNF608 EXON Missense_R1441W exm474171 5 123979991 [A/G] NM_020747 ZNF608 EXON Missense_P1357S exm474180 5 123980144 [T/C] NM_020747 ZNF608 EXON Missense_M1306V exm474182 5 123980161 [T/G] NM_020747 ZNF608 EXON Missense_H1300P exm474183 5 123980164 [T/C] NM_020747 ZNF608 EXON Missense_K1299R exm474189 5 123980324 [T/C] NM_020747 ZNF608 EXON Missense_V1246I exm474197 5 123982685 [G/C] NM_020747 ZNF608 EXON Missense_S1131T exm474219 5 123983221 [T/G] NM_020747 ZNF608 EXON Missense_D952E exm2085199 5 123983351 [A/G] NM_020747 ZNF608 EXON Missense_L909S exm474233 5 123983471 [A/G] NM_020747 ZNF608 EXON Missense_S869L exm474247 5 123983915 [T/G] NM_020747 ZNF608 EXON Missense_T721N exm474249 5 123983954 [T/C] NM_020747 ZNF608 EXON Missense_K708R exm474254 5 123984024 [T/C] NM_020747 ZNF608 EXON Missense_S685G exm2085209 5 123984048 [A/G] NM_020747 ZNF608 EXON Missense_S677P exm474270 5 123984743 [A/G] NM_020747 ZNF608 EXON Missense_P445L exm2256893 5 123984763 [T/C] NM_020747 ZNF608 EXON Synonymous_A438A exm474283 5 124036907 [A/G] NM_020747 ZNF608 EXON Missense_T321M exm474300 5 124079965 [C/G] NM_020747 ZNF608 EXON Missense_A240P exm474304 5 124080046 [T/C] NM_020747 ZNF608 EXON Missense_D213N exm474314 5 124080379 [T/C] NM_020747 ZNF608 EXON Missense_S102G exm474316 5 124080382 [T/A] NM_020747 ZNF608 EXON Missense_T101S exm2261819 5 124361588 [A/G] exm-rs6862844 5 124365967 [A/C] exm2256896 5 124507341 [T/C] exm2270125 5 124660883 [T/C] exm-rs2637496 5 124743267 [T/C] exm-rs465384 5 125243020 [T/C] exm-rs1073203 5 125319456 [G/C] exm2270126 5 125388544 [T/C] exm2266116 5 125443261 [A/G] exm2241601 5 125696118 [G/C] NM_001146319 GRAMD3 EXON Missense_R32T exm474330 5 125696124 [A/T] NM_001146319 GRAMD3 EXON Missense_V34E exm474331 5 125696127 [A/G] NM_001146319 GRAMD3 EXON Missense_K35R exm474337 5 125801120 [T/C] NM_001146319,NM_023927,NM_001146320,NM_001146321,NM_001146322 GRAMD3,GRAMD3,GRAMD3,GRAMD3,GRAMD3 EXON Missense_S44L,Missense_S29L,Silent,Nonsense_Q23X,Missense_S13L exm474338 5 125801135 [G/C] NM_001146319,NM_023927,NM_001146320,NM_001146321,NM_001146322 GRAMD3,GRAMD3,GRAMD3,GRAMD3,GRAMD3 EXON Missense_G49A,Missense_G34A,Silent,Missense_V28L,Missense_G18A exm474345 5 125801239 [T/C] NM_001146319,NM_023927,NM_001146320,NM_001146321,NM_001146322 GRAMD3,GRAMD3,GRAMD3,GRAMD3,GRAMD3 Silent,Silent,Silent,Silent,Silent exm474346 5 125802027 [A/G] NM_001146319,NM_023927,NM_001146320,NM_001146321,NM_001146322 GRAMD3,GRAMD3,GRAMD3,GRAMD3,GRAMD3 EXON Silent,Silent,Silent,Missense_E76K,Silent exm474364 5 125816178 [A/T] NM_001146319,NM_023927,NM_001146320,NM_001146321,NM_001146322 GRAMD3,GRAMD3,GRAMD3,GRAMD3,GRAMD3 EXON Missense_S220T,Missense_S205T,Missense_S101T,Missense_S213T,Missense_S189T exm474377 5 125821429 [T/C] NM_001146319,NM_023927,NM_001146320,NM_001146321,NM_001146322 GRAMD3,GRAMD3,GRAMD3,GRAMD3,GRAMD3 EXON Missense_P356L,Missense_P341L,Missense_P237L,Missense_P349L,Missense_P325L exm474379 5 125821441 [A/G] NM_001146319,NM_023927,NM_001146320,NM_001146321,NM_001146322 GRAMD3,GRAMD3,GRAMD3,GRAMD3,GRAMD3 EXON Missense_H360R,Missense_H345R,Missense_H241R,Missense_H353R,Missense_H329R exm474387 5 125824498 [A/G] NM_001146319,NM_023927,NM_001146320,NM_001146321,NM_001146322 GRAMD3,GRAMD3,GRAMD3,GRAMD3,GRAMD3 EXON Missense_A406T,Missense_A391T,Missense_A287T,Missense_A399T,Missense_A375T exm474389 5 125824552 [T/G] NM_001146319,NM_023927,NM_001146320,NM_001146321,NM_001146322 GRAMD3,GRAMD3,GRAMD3,GRAMD3,GRAMD3 EXON Nonsense_E424X,Nonsense_E409X,Nonsense_E305X,Nonsense_E417X,Nonsense_E393X exm474399 5 125880710 [T/C] NM_001201377,NM_001202404,NM_001182 ALDH7A1,ALDH7A1,ALDH7A1 EXON Missense_T495A,Missense_T486A,Missense_T523A exm2241602 5 125882068 [G/C] NM_001201377,NM_001202404,NM_001182 ALDH7A1,ALDH7A1,ALDH7A1 EXON Missense_G477R,Missense_G468R,Missense_G505R exm474408 5 125885897 [T/C] NM_001201377,NM_001202404,NM_001182 ALDH7A1,ALDH7A1,ALDH7A1 EXON Missense_R441H,Missense_R432H,Missense_R469H exm474413 5 125887715 [T/G] NM_001201377,NM_001202404,NM_001182 ALDH7A1,ALDH7A1,ALDH7A1 EXON Missense_K411Q,Missense_K402Q,Missense_K439Q exm474418 5 125887751 [C/G] NM_001201377,NM_001202404,NM_001182 ALDH7A1,ALDH7A1,ALDH7A1 EXON Missense_E399Q,Missense_E390Q,Missense_E427Q exm474419 5 125887754 [T/C] NM_001201377,NM_001202404,NM_001182 ALDH7A1,ALDH7A1,ALDH7A1 EXON Missense_T398A,Missense_T389A,Missense_T426A exm474420 5 125887796 [T/C] NM_001201377,NM_001202404,NM_001182 ALDH7A1,ALDH7A1,ALDH7A1 EXON Missense_T384A,Missense_T375A,Missense_T412A exm474423 5 125890029 [T/C] NM_001201377,NM_001202404,NM_001182 ALDH7A1,ALDH7A1,ALDH7A1 EXON Missense_A356T,Silent,Missense_A384T exm474435 5 125895026 [C/G] NM_001201377,NM_001202404,NM_001182 ALDH7A1,ALDH7A1,ALDH7A1 EXON Missense_A277G,Missense_A332G,Missense_A305G exm2256899 5 125897411 [T/C] NM_001201377,NM_001202404,NM_001182 ALDH7A1,ALDH7A1,ALDH7A1 Silent,Silent,Silent exm474448 5 125911151 [C/G] NM_001201377,NM_001202404,NM_001182 ALDH7A1,ALDH7A1,ALDH7A1 EXON Missense_G191A,Missense_G246A,Missense_G219A exm474454 5 125912868 [T/C] NM_001201377,NM_001202404,NM_001182 ALDH7A1,ALDH7A1,ALDH7A1 EXON Missense_V157I,Missense_V212I,Missense_V185I exm-rs13182402 5 125918148 [A/G] NM_001201377,NM_001202404,NM_001182 ALDH7A1,ALDH7A1,ALDH7A1 Silent,Silent,Silent exm474463 5 125919644 [T/C] NM_001201377,NM_001202404,NM_001182 ALDH7A1,ALDH7A1,ALDH7A1 EXON Missense_I97V,Missense_I152V,Missense_I125V exm2266117 5 125923632 [A/G] NM_001201377,NM_001202404,NM_001182 ALDH7A1,ALDH7A1,ALDH7A1 Silent,Silent,Silent exm474473 5 125929086 [T/G] NM_001201377,NM_001202404,NM_001182 ALDH7A1,ALDH7A1,ALDH7A1 EXON Missense_T40N,Missense_T95N,Missense_T68N exm474494 5 125939409 [T/C] NM_032177 PHAX EXON Missense_R82C exm474495 5 125939436 [T/C] NM_032177 PHAX EXON Missense_P91S exm474497 5 125939582 [C/G] NM_032177 PHAX EXON Missense_M139I exm474505 5 125939656 [A/C] NM_032177 PHAX EXON Missense_S164Y exm474507 5 125939715 [A/G] NM_032177 PHAX EXON Missense_K184E exm474516 5 125939818 [A/G] NM_032177 PHAX EXON Missense_R218Q exm474530 5 125952994 [A/G] NM_032177 PHAX EXON Missense_N295S exm474532 5 125953023 [A/G] NM_032177 PHAX EXON Missense_K305E exm474536 5 125960388 [A/G] NM_032177 PHAX EXON Missense_D346G exm474546 5 125968245 [A/G] NM_207408 C5orf48 EXON Missense_E32K exm474548 5 125968294 [A/G] NM_207408 C5orf48 EXON Missense_R48H exm474557 5 125971811 [T/C] NM_207408 C5orf48 EXON Missense_R95C exm474558 5 125971812 [A/G] NM_207408 C5orf48 EXON Missense_R95H exm474591 5 126145905 [T/C] NM_005573,NM_001198557 LMNB1,LMNB1 EXON Missense_R226C,Missense_R16C exm474603 5 126147541 [A/G] NM_005573,NM_001198557 LMNB1,LMNB1 EXON Missense_R297H,Missense_R87H exm474610 5 126154726 [A/G] NM_005573,NM_001198557 LMNB1,LMNB1 EXON Missense_D351G,Missense_D141G exm474614 5 126156619 [A/G] NM_005573,NM_001198557 LMNB1,LMNB1 EXON Missense_S393N,Missense_S183N exm474625 5 126161690 [T/C] NM_005573,NM_001198557 LMNB1,LMNB1 EXON Missense_A501V,Missense_A291V exm474631 5 126168450 [A/C] NM_005573,NM_001198557 LMNB1,LMNB1 EXON Missense_E559A,Missense_E349A exm474652 5 126213944 [T/C] NM_178450 MARCH3 EXON Missense_R179Q exm474672 5 126250812 [T/C] NM_178450 MARCH3 EXON Missense_R68Q exm2256900 5 126253720 [A/G] NM_178450 MARCH3 EXON Synonymous_D48D exm474675 5 126253737 [T/G] NM_178450 MARCH3 EXON Missense_Q43K exm474678 5 126253787 [A/G] NM_178450 MARCH3 EXON Missense_T26M exm474683 5 126253850 [T/C] NM_178450 MARCH3 EXON Missense_R5H exm2270128 5 126356042 [T/C] NM_178450 MARCH3 Silent exm474696 5 126667050 [A/G] NM_032446,NM_001256545 MEGF10,MEGF10 EXON Missense_C17Y,Missense_C17Y exm474710 5 126676262 [A/G] NM_032446,NM_001256545 MEGF10,MEGF10 EXON Missense_M87V,Missense_M87V exm474717 5 126732256 [A/C] NM_032446,NM_001256545 MEGF10,MEGF10 EXON Missense_T149P,Missense_T149P exm474719 5 126732263 [A/G] NM_032446,NM_001256545 MEGF10,MEGF10 EXON Missense_R151Q,Missense_R151Q exm2256902 5 126732399 [A/G] NM_032446,NM_001256545 MEGF10,MEGF10 EXON Synonymous_Q196Q,Synonymous_Q196Q exm474728 5 126732427 [A/G] NM_032446,NM_001256545 MEGF10,MEGF10 EXON Missense_V206I,Missense_V206I exm474731 5 126732463 [A/G] NM_032446,NM_001256545 MEGF10,MEGF10 EXON Missense_G218R,Missense_G218R exm474735 5 126734377 [A/T] NM_032446,NM_001256545 MEGF10,MEGF10 EXON Missense_D223E,Missense_D223E exm474740 5 126738334 [A/G] NM_032446,NM_001256545 MEGF10,MEGF10 EXON Missense_T293A,Missense_T293A exm474754 5 126746209 [A/G] NM_032446,NM_001256545 MEGF10,MEGF10 EXON Missense_R349H,Missense_R349H exm474755 5 126746221 [A/G] NM_032446,NM_001256545 MEGF10,MEGF10 EXON Missense_R353H,Missense_R353H exm474769 5 126754870 [A/G] NM_032446,NM_001256545 MEGF10,MEGF10 EXON Missense_R455H,Missense_R455H exm474777 5 126755823 [A/G] NM_032446,NM_001256545 MEGF10,MEGF10 EXON Missense_G505E,Missense_G505E exm474780 5 126755873 [A/G] NM_032446,NM_001256545 MEGF10,MEGF10 EXON Missense_G522R,Missense_G522R exm474781 5 126758369 [A/C] NM_032446,NM_001256545 MEGF10,MEGF10 EXON Missense_T533K,Missense_T533K exm474783 5 126758393 [T/G] NM_032446,NM_001256545 MEGF10,MEGF10 EXON Missense_R541L,Missense_R541L exm474790 5 126769087 [T/C] NM_032446,NM_001256545 MEGF10,MEGF10 EXON Missense_R576C,Missense_R576C exm474797 5 126769200 [A/G] NM_032446,NM_001256545 MEGF10,MEGF10 EXON Synonymous_R613R,Synonymous_R613R exm474808 5 126771151 [A/C] NM_032446,NM_001256545 MEGF10,MEGF10 EXON Missense_P692T,Missense_P692T exm2085462 5 126774170 [A/C] NM_032446,NM_001256545 MEGF10,MEGF10 EXON Missense_T715K,Missense_T715K exm474827 5 126778804 [T/C] NM_032446,NM_001256545 MEGF10,MEGF10 EXON Missense_A826V,Missense_A826V exm474832 5 126781311 [A/G] NM_032446,NM_001256545 MEGF10,MEGF10 EXON Missense_G885E,Missense_G885E exm474834 5 126781361 [A/G] NM_032446,NM_001256545 MEGF10,MEGF10 EXON Missense_V902I,Missense_V902I exm474860 5 126791282 [A/G] NM_032446,NM_001256545 MEGF10,MEGF10 EXON Missense_R1072K,Missense_R1072K exm474861 5 126791283 [G/C] NM_032446,NM_001256545 MEGF10,MEGF10 EXON Missense_R1072S,Missense_R1072S exm474875 5 126860223 [T/C] NM_130809 PRRC1 EXON Missense_A35V exm474881 5 126860426 [A/G] NM_130809 PRRC1 EXON Missense_G103S exm474884 5 126860492 [G/C] NM_130809 PRRC1 EXON Missense_P125A exm474891 5 126860562 [A/G] NM_130809 PRRC1 EXON Missense_R148K exm2085501 5 126862430 [A/G] NM_130809 PRRC1 EXON Missense_Q205R exm2085508 5 126869425 [T/G] NM_130809 PRRC1 EXON Missense_A290S exm474922 5 126874763 [A/G] NM_130809 PRRC1 EXON Missense_R318Q exm474931 5 126883615 [T/C] NM_130809 PRRC1 Silent exm474940 5 126887532 [A/G] NM_130809 PRRC1 EXON Missense_R421H exm2256903 5 126993249 [C/G] NM_001048252,NM_001127385 CTXN3,CTXN3 EXON Synonymous_V12V,Synonymous_V12V exm474953 5 126993262 [A/G] NM_001048252,NM_001127385 CTXN3,CTXN3 EXON Missense_E17K,Missense_E17K exm474954 5 126993263 [T/A] NM_001048252,NM_001127385 CTXN3,CTXN3 EXON Missense_E17V,Missense_E17V exm474955 5 126993282 [A/G] NM_001048252,NM_001127385 CTXN3,CTXN3 EXON Missense_M23I,Missense_M23I exm474958 5 126993424 [A/C] NM_001048252,NM_001127385 CTXN3,CTXN3 EXON Missense_L71M,Missense_L71M exm2266001 5 127031523 [A/G] exm2266118 5 127120041 [A/G] exm-rs245201 5 127169212 [A/G] exm2256905 5 127294777 [A/G] exm-rs10063647 5 127371588 [A/G] NR_015360 FLJ33630 Silent exm474988 5 127420260 [T/C] NR_046207,NM_001256461,NM_001046 SLC12A2,SLC12A2,SLC12A2 EXON Silent,Missense_T205I,Missense_T205I exm474989 5 127420263 [A/G] NR_046207,NM_001256461,NM_001046 SLC12A2,SLC12A2,SLC12A2 EXON Silent,Missense_N206S,Missense_N206S exm2256906 5 127420327 [T/C] NR_046207,NM_001256461,NM_001046 SLC12A2,SLC12A2,SLC12A2 EXON Silent,Synonymous_Y227Y,Synonymous_Y227Y exm474995 5 127448519 [A/G] NR_046207,NM_001256461,NM_001046 SLC12A2,SLC12A2,SLC12A2 EXON Silent,Missense_D257G,Missense_D257G exm475000 5 127448588 [A/G] NR_046207,NM_001256461,NM_001046 SLC12A2,SLC12A2,SLC12A2 EXON Silent,Missense_K280R,Missense_K280R exm475005 5 127450346 [A/G] NR_046207,NM_001256461,NM_001046 SLC12A2,SLC12A2,SLC12A2 EXON Silent,Missense_I341V,Missense_I341V exm475013 5 127469872 [A/G] NR_046207,NM_001256461,NM_001046 SLC12A2,SLC12A2,SLC12A2 EXON Silent,Missense_M402V,Missense_M402V exm475041 5 127493761 [A/G] NR_046207,NM_001256461,NM_001046 SLC12A2,SLC12A2,SLC12A2 EXON Silent,Missense_M794V,Missense_M794V exm475042 5 127493783 [A/G] NR_046207,NM_001256461,NM_001046 SLC12A2,SLC12A2,SLC12A2 EXON Silent,Missense_R801H,Missense_R801H exm475044 5 127497352 [A/G] NR_046207,NM_001256461,NM_001046 SLC12A2,SLC12A2,SLC12A2 EXON Silent,Missense_G826S,Missense_G826S exm2241615 5 127514316 [A/G] NR_046207,NM_001256461,NM_001046 SLC12A2,SLC12A2,SLC12A2 EXON Silent,Missense_S996N,Missense_S1012N exm475081 5 127520179 [A/C] NR_046207,NM_001256461,NM_001046 SLC12A2,SLC12A2,SLC12A2 EXON Silent,Missense_L1125I,Missense_L1141I exm475084 5 127520493 [A/G] NR_046207,NM_001256461,NM_001046 SLC12A2,SLC12A2,SLC12A2 EXON Silent,Missense_I1134V,Missense_I1150V exm-rs10089 5 127522543 [T/C] NR_046207,NM_001256461,NM_001046 SLC12A2,SLC12A2,SLC12A2 EXON Silent,Silent,Silent exm2270243 5 127571899 [T/C] exm475112 5 127595458 [T/A] NM_001999 FBN2 EXON Missense_S2810T exm475114 5 127595510 [G/C] NM_001999 FBN2 EXON Missense_I2792M exm475118 5 127597441 [A/G] NM_001999 FBN2 EXON Missense_P2784L exm475119 5 127597445 [G/C] NM_001999 FBN2 EXON Missense_E2783Q exm2256907 5 127597545 [T/C] NM_001999 FBN2 EXON Synonymous_T2749T exm475131 5 127597545 [T/C] NM_001999 FBN2 EXON Synonymous_T2749T exm475132 5 127597553 [G/C] NM_001999 FBN2 EXON Missense_L2747V exm475141 5 127599184 [T/C] NM_001999 FBN2 EXON Missense_G2709S exm475165 5 127609633 [A/G] NM_001999 FBN2 EXON Missense_S2580L exm475166 5 127610270 [A/G] NM_001999 FBN2 EXON Missense_T2567I exm475169 5 127611731 [T/C] NM_001999 FBN2 EXON Synonymous_K2531K exm475171 5 127611828 [A/G] NM_001999 FBN2 EXON Missense_P2499L exm2275818 5 127613625 [A/C] NM_001999 FBN2 EXON Missense_R2473L exm475175 5 127614376 [A/C] NM_001999 FBN2 EXON Missense_Q2432H exm475179 5 127614467 [T/C] NM_001999 FBN2 EXON Missense_R2402H exm475182 5 127614491 [A/G] NM_001999 FBN2 EXON Missense_I2394T exm475183 5 127614492 [T/C] NM_001999 FBN2 EXON Missense_I2394V exm475192 5 127622440 [A/C] NM_001999 FBN2 EXON Missense_A2328S exm475194 5 127622476 [T/A] NM_001999 FBN2 EXON Missense_I2316F exm475195 5 127622491 [T/C] NM_001999 FBN2 EXON Missense_M2311V exm475211 5 127624232 [T/C] NM_001999 FBN2 EXON Missense_I2219V exm475217 5 127624905 [T/A] NM_001999 FBN2 EXON Missense_N2184I exm475228 5 127626535 [T/C] NM_001999 FBN2 EXON Missense_K2112E exm475245 5 127637137 [T/C] NM_001999 FBN2 EXON Missense_G1995S exm475254 5 127640728 [A/C] NM_001999 FBN2 EXON Missense_L1907F exm475302 5 127653916 [T/C] NM_001999 FBN2 EXON Missense_V1548I exm475309 5 127664405 [T/C] NM_001999 FBN2 EXON Missense_D1485G exm475311 5 127664441 [T/C] NM_001999 FBN2 EXON Missense_R1473H exm475315 5 127666298 [T/C] NM_001999 FBN2 EXON Missense_E1438K exm475317 5 127666312 [T/C] NM_001999 FBN2 EXON Missense_R1433H exm475320 5 127666364 [T/C] NM_001999 FBN2 EXON Missense_T1416A exm475323 5 127668685 [T/G] NM_001999 FBN2 EXON Missense_H1381N exm475325 5 127670412 [T/G] NM_001999 FBN2 EXON Synonymous_T1366T exm475339 5 127671155 [A/G] NM_001999 FBN2 EXON Missense_S1280L exm475341 5 127671227 [T/C] NM_001999 FBN2 EXON Missense_Q1256R exm475344 5 127671254 [A/G] NM_001999 FBN2 EXON Missense_M1247T exm2085673 5 127671694 [A/C] NM_001999 FBN2 EXON Missense_R1237L exm475348 5 127673692 [T/C] NM_001999 FBN2 EXON Missense_V1199M exm2085680 5 127673769 [G/C] NM_001999 FBN2 EXON Missense_T1173S exm475358 5 127674703 [T/C] NM_001999 FBN2 EXON Missense_V1132I exm475365 5 127680098 [T/G] NM_001999 FBN2 EXON Missense_M1108L exm475374 5 127681100 [A/C] NM_001999 FBN2 EXON Missense_A1056S exm475376 5 127681117 [A/G] NM_001999 FBN2 EXON Missense_T1050M exm475388 5 127685050 [T/C] NM_001999 FBN2 EXON Missense_R993H exm475392 5 127685135 [T/C] NM_001999 FBN2 EXON Missense_V965I exm475403 5 127686688 [T/C] NM_001999 FBN2 EXON Missense_K895R exm475406 5 127692991 [G/C] NM_001999 FBN2 EXON Missense_S884T exm-rs374748 5 127699375 [A/G] NM_001999 FBN2 Silent exm475423 5 127702112 [T/C] NM_001999 FBN2 EXON Missense_G754S exm475447 5 127727722 [C/G] NM_001999 FBN2 EXON Missense_G531A exm475453 5 127728858 [T/C] NM_001999 FBN2 EXON Missense_G479R exm475458 5 127729008 [T/C] NM_001999 FBN2 EXON Missense_S429G exm475460 5 127729037 [T/C] NM_001999 FBN2 EXON Missense_D419G exm475471 5 127744388 [T/C] NM_001999 FBN2 EXON Missense_T353A exm475473 5 127744405 [T/C] NM_001999 FBN2 EXON Missense_R347H exm475475 5 127744469 [A/G] NM_001999 FBN2 EXON Missense_P326S exm475480 5 127782297 [T/C] NM_001999 FBN2 EXON Missense_V277I exm475481 5 127800432 [T/G] NM_001999 FBN2 EXON Missense_T271P exm475485 5 127800456 [A/G] NM_001999 FBN2 EXON Missense_R263W exm475490 5 127800515 [A/G] NM_001999 FBN2 EXON Missense_I243T exm475503 5 127863579 [A/G] NM_001999 FBN2 EXON Missense_T173I exm475505 5 127866311 [A/G] NM_001999 FBN2 EXON Missense_S138L exm475508 5 127866385 [T/C] NM_001999 FBN2 EXON Synonymous_P113P exm475511 5 127873080 [T/G] NM_001999 FBN2 EXON Missense_R73S exm475512 5 127873088 [A/G] NM_001999 FBN2 EXON Missense_V70A exm475513 5 127873094 [A/G] NM_001999 FBN2 EXON Missense_A68V exm475517 5 127873140 [T/C] NM_001999 FBN2 EXON Missense_G53S exm2270129 5 128040308 [T/C] exm2241626 5 128301211 [A/G] NM_014031 SLC27A6 EXON Silent exm475532 5 128301885 [T/G] NM_014031,NM_001017372 SLC27A6,SLC27A6 EXON Missense_L19V,Missense_L19V exm475537 5 128301916 [A/G] NM_014031,NM_001017372 SLC27A6,SLC27A6 EXON Missense_D29G,Missense_D29G exm475550 5 128302069 [A/C] NM_014031,NM_001017372 SLC27A6,SLC27A6 EXON Missense_Y80S,Missense_Y80S exm475555 5 128302155 [A/G] NM_014031,NM_001017372 SLC27A6,SLC27A6 EXON Missense_A109T,Missense_A109T exm475557 5 128302174 [A/G] NM_014031,NM_001017372 SLC27A6,SLC27A6 EXON Missense_E115G,Missense_E115G exm475558 5 128302185 [A/G] NM_014031,NM_001017372 SLC27A6,SLC27A6 EXON Missense_V119I,Missense_V119I exm475566 5 128302288 [T/C] NM_014031,NM_001017372 SLC27A6,SLC27A6 EXON Missense_P153L,Missense_P153L exm475570 5 128320963 [T/C] NM_014031,NM_001017372 SLC27A6,SLC27A6 EXON Missense_R207C,Missense_R207C exm475572 5 128320972 [A/C] NM_014031,NM_001017372 SLC27A6,SLC27A6 EXON Missense_H210N,Missense_H210N exm475573 5 128321002 [T/C] NM_014031,NM_001017372 SLC27A6,SLC27A6 EXON Missense_L220F,Missense_L220F exm475579 5 128326071 [T/C] NM_014031,NM_001017372 SLC27A6,SLC27A6 EXON Nonsense_Q295X,Nonsense_Q295X exm475580 5 128326090 [A/G] NM_014031,NM_001017372 SLC27A6,SLC27A6 EXON Missense_K301R,Missense_K301R exm-rs17699669 5 128335178 [A/G] NM_014031,NM_001017372 SLC27A6,SLC27A6 Silent,Silent exm475588 5 128351606 [A/G] NM_014031,NM_001017372 SLC27A6,SLC27A6 EXON Missense_R333H,Missense_R333H exm475594 5 128351680 [T/C] NM_014031,NM_001017372 SLC27A6,SLC27A6 EXON Missense_C358R,Missense_C358R exm475595 5 128351735 [A/G] NM_014031,NM_001017372 SLC27A6,SLC27A6 EXON Missense_R376K,Missense_R376K exm475599 5 128359398 [T/A] NM_014031,NM_001017372 SLC27A6,SLC27A6 EXON Missense_K417I,Missense_K417I exm475600 5 128359404 [A/G] NM_014031,NM_001017372 SLC27A6,SLC27A6 Silent,Silent exm475603 5 128362864 [A/C] NM_014031,NM_001017372 SLC27A6,SLC27A6 EXON Missense_N432H,Missense_N432H exm475614 5 128364064 [T/C] NM_014031,NM_001017372 SLC27A6,SLC27A6 EXON Missense_T494I,Missense_T494I exm475618 5 128364097 [T/G] NM_014031,NM_001017372 SLC27A6,SLC27A6 EXON Missense_F505C,Missense_F505C exm475621 5 128365320 [A/T] NM_014031,NM_001017372 SLC27A6,SLC27A6 EXON Missense_S535T,Missense_S535T exm2277288 5 128365384 [T/G] NM_014031,NM_001017372 SLC27A6,SLC27A6 EXON Missense_R556L,Missense_R556L exm475627 5 128368883 [A/C] NM_014031,NM_001017372 SLC27A6,SLC27A6 EXON Missense_P590T,Missense_P590T exm475649 5 128441007 [A/G] NM_016048 ISOC1 EXON Missense_M187V exm475650 5 128441010 [T/G] NM_016048 ISOC1 EXON Missense_V188L exm475661 5 128448575 [A/T] NM_016048 ISOC1 EXON Missense_T260S exm2270244 5 128578098 [T/C] exm2256910 5 128722696 [A/G] exm475676 5 128797271 [A/G] NM_133638 ADAMTS19 EXON Missense_G184S exm475680 5 128797368 [T/C] NM_133638 ADAMTS19 EXON Missense_P216L exm475695 5 128863471 [A/G] NM_133638 ADAMTS19 EXON Missense_S367G exm475705 5 128864279 [A/G] NM_133638 ADAMTS19 EXON Missense_E407K exm475706 5 128864284 [A/T] NM_133638 ADAMTS19 EXON Missense_F408L exm475710 5 128887591 [A/G] NM_133638 ADAMTS19 EXON Missense_D449N exm475717 5 128956343 [T/C] NM_133638 ADAMTS19 EXON Missense_S498L exm2256911 5 128956446 [T/C] NM_133638 ADAMTS19 EXON Synonymous_F532F exm475723 5 128957926 [T/C] NM_133638 ADAMTS19 EXON Missense_P546L exm475724 5 128957934 [A/G] NM_133638 ADAMTS19 EXON Missense_V549I exm475725 5 128957938 [A/G] NM_133638 ADAMTS19 EXON Missense_N550S exm2266004 5 128975230 [A/G] NM_133638 ADAMTS19 Silent exm475733 5 128983484 [A/C] NM_133638 ADAMTS19 EXON Missense_S627R exm475753 5 129015540 [A/G] NM_133638 ADAMTS19 EXON Missense_V858I exm475786 5 129040056 [T/A] NM_133638 ADAMTS19 EXON Missense_Y1089F exm475793 5 129072868 [T/C] NM_133638 ADAMTS19 EXON Missense_T1194I exm475800 5 129240667 [C/G] NM_175856 CHSY3 EXON Missense_G49R exm475823 5 129241274 [T/C] NM_175856 CHSY3 EXON Missense_L251P exm475839 5 129519928 [A/C] NM_175856 CHSY3 EXON Missense_Q365K exm475840 5 129519973 [A/C] NM_175856 CHSY3 EXON Missense_Q380K exm2085888 5 129520055 [A/G] NM_175856 CHSY3 EXON Missense_N407S exm475848 5 129520070 [A/G] NM_175856 CHSY3 EXON Missense_R412H exm2241635 5 129520094 [T/G] NM_175856 CHSY3 EXON Missense_R420L exm475858 5 129520221 [A/C] NM_175856 CHSY3 EXON Missense_E462D exm475859 5 129520227 [A/G] NM_175856 CHSY3 EXON Missense_I464M exm475864 5 129520279 [A/C] NM_175856 CHSY3 EXON Missense_P482T exm2256913 5 129520338 [A/G] NM_175856 CHSY3 EXON Synonymous_Q501Q exm475872 5 129520433 [A/G] NM_175856 CHSY3 EXON Missense_H533R exm2085891 5 129520637 [T/C] NM_175856 CHSY3 EXON Missense_L601S exm475881 5 129520679 [A/G] NM_175856 CHSY3 EXON Missense_G615E exm475884 5 129520720 [A/G] NM_175856 CHSY3 EXON Missense_G629R exm2085893 5 129520767 [T/G] NM_175856 CHSY3 EXON Missense_M644I exm475886 5 129520771 [T/C] NM_175856 CHSY3 EXON Missense_L646F exm2256914 5 129521076 [T/C] NM_175856 CHSY3 EXON Synonymous_F747F exm475905 5 129521126 [A/G] NM_175856 CHSY3 EXON Missense_D764G exm475916 5 129521401 [A/C] NM_175856 CHSY3 EXON Missense_S856R exm475918 5 129521440 [T/C] NM_175856 CHSY3 EXON Missense_L869F exm475920 5 129521470 [T/C] NM_175856 CHSY3 EXON Nonsense_R879X exm2266119 5 129552816 [A/G] exm2270130 5 129694842 [T/C] exm2256916 5 129863694 [A/C] exm-rs7731657 5 129943319 [T/C] exm-rs6867265 5 130413981 [A/G] exm475945 5 130517930 [A/C] NM_181705 LYRM7 EXON Missense_I34L exm475946 5 130517944 [A/C] NM_181705 LYRM7 EXON Missense_E38D exm475951 5 130535243 [A/C] NM_181705 LYRM7 EXON Missense_D88E exm2264153 5 130558963 [A/C] exm2270131 5 130604109 [T/G] NM_020240,NM_001038702 CDC42SE2,CDC42SE2 Silent,Silent exm2256918 5 130726763 [T/C] NM_020240,NM_001038702 CDC42SE2,CDC42SE2 EXON Synonymous_L78L,Synonymous_L78L exm475972 5 130764598 [A/C] NM_001164388,NM_001164387,NM_016340,NM_001164386 RAPGEF6,RAPGEF6,RAPGEF6,RAPGEF6 EXON Silent,Silent,Missense_D1593Y,Missense_D1601Y exm475973 5 130764677 [A/C] NM_001164388,NM_001164387,NM_016340,NM_001164386 RAPGEF6,RAPGEF6,RAPGEF6,RAPGEF6 EXON Silent,Silent,Missense_I1566M,Missense_I1574M exm475975 5 130764699 [T/A] NM_001164388,NM_001164387,NM_016340,NM_001164386 RAPGEF6,RAPGEF6,RAPGEF6,RAPGEF6 EXON Silent,Silent,Missense_V1559E,Missense_V1567E exm475977 5 130764705 [T/C] NM_001164388,NM_001164387,NM_016340,NM_001164386 RAPGEF6,RAPGEF6,RAPGEF6,RAPGEF6 EXON Silent,Silent,Missense_N1557S,Missense_N1565S exm475981 5 130764798 [T/A] NM_001164388,NM_001164387,NM_016340,NM_001164386 RAPGEF6,RAPGEF6,RAPGEF6,RAPGEF6 EXON Silent,Silent,Missense_H1526L,Missense_H1534L exm475991 5 130766608 [A/T] NM_001164388,NM_001164387,NM_016340,NM_001164386 RAPGEF6,RAPGEF6,RAPGEF6,RAPGEF6 EXON Missense_D1478V,Missense_D1483V,Missense_D1470V,Missense_D1478V exm475997 5 130766692 [A/G] NM_001164388,NM_001164387,NM_016340,NM_001164386 RAPGEF6,RAPGEF6,RAPGEF6,RAPGEF6 EXON Missense_T1450M,Missense_T1455M,Missense_T1442M,Missense_T1450M exm475998 5 130766695 [T/C] NM_001164388,NM_001164387,NM_016340,NM_001164386 RAPGEF6,RAPGEF6,RAPGEF6,RAPGEF6 EXON Missense_D1449G,Missense_D1454G,Missense_D1441G,Missense_D1449G exm476001 5 130766713 [A/G] NM_001164388,NM_001164387,NM_016340,NM_001164386 RAPGEF6,RAPGEF6,RAPGEF6,RAPGEF6 EXON Missense_S1443F,Missense_S1448F,Missense_S1435F,Missense_S1443F exm476004 5 130766905 [T/C] NM_001164388,NM_001164387,NM_016340,NM_001164386 RAPGEF6,RAPGEF6,RAPGEF6,RAPGEF6 EXON Missense_S1379N,Missense_S1384N,Missense_S1371N,Missense_S1379N exm476007 5 130766960 [T/C] NM_001164388,NM_001164387,NM_016340,NM_001164386 RAPGEF6,RAPGEF6,RAPGEF6,RAPGEF6 EXON Missense_I1361V,Missense_I1366V,Missense_I1353V,Missense_I1361V exm476013 5 130767035 [C/G] NM_001164388,NM_001164387,NM_016340,NM_001164386 RAPGEF6,RAPGEF6,RAPGEF6,RAPGEF6 EXON Missense_L1336V,Missense_L1341V,Missense_L1328V,Missense_L1336V exm476014 5 130767038 [T/C] NM_001164388,NM_001164387,NM_016340,NM_001164386 RAPGEF6,RAPGEF6,RAPGEF6,RAPGEF6 EXON Missense_T1335A,Missense_T1340A,Missense_T1327A,Missense_T1335A exm476022 5 130769229 [T/C] NM_001164388,NM_001164387,NM_016340,NM_001164386 RAPGEF6,RAPGEF6,RAPGEF6,RAPGEF6 EXON Missense_D1298N,Missense_D1303N,Missense_D1290N,Missense_D1298N exm2085946 5 130788768 [C/G] NM_001164388,NM_001164387,NM_016340,NM_001164386,NM_001164389 RAPGEF6,RAPGEF6,RAPGEF6,RAPGEF6,RAPGEF6 EXON Missense_P1060R,Missense_P1065R,Missense_P1060R,Missense_P1060R,Missense_P1060R exm476063 5 130791649 [G/C] NM_001164388,NM_001164387,NM_016340,NM_001164386,NM_001164389 RAPGEF6,RAPGEF6,RAPGEF6,RAPGEF6,RAPGEF6 EXON Missense_S974T,Missense_S979T,Missense_S974T,Missense_S974T,Missense_S974T exm476084 5 130799921 [T/C] NM_001164388,NM_001164387,NM_016340,NM_001164386,NM_001164389,NM_001164390 RAPGEF6,RAPGEF6,RAPGEF6,RAPGEF6,RAPGEF6,RAPGEF6 EXON Missense_I765V,Missense_I770V,Missense_I765V,Missense_I765V,Missense_I765V,Missense_I765V exm476094 5 130808381 [T/C] NM_001164388,NM_001164387,NM_016340,NM_001164386,NM_001164389,NM_001164390 RAPGEF6,RAPGEF6,RAPGEF6,RAPGEF6,RAPGEF6,RAPGEF6 EXON Missense_R713K,Missense_R713K,Missense_R713K,Missense_R713K,Missense_R713K,Missense_R713K exm2241638 5 130828298 [A/C] NM_001164388,NM_001164387,NM_016340,NM_001164386,NM_001164389,NM_001164390 RAPGEF6,RAPGEF6,RAPGEF6,RAPGEF6,RAPGEF6,RAPGEF6 EXON Missense_S570A,Missense_S570A,Missense_S570A,Missense_S570A,Missense_S570A,Missense_S570A exm476106 5 130828394 [A/G] NM_001164388,NM_001164387,NM_016340,NM_001164386,NM_001164389,NM_001164390 RAPGEF6,RAPGEF6,RAPGEF6,RAPGEF6,RAPGEF6,RAPGEF6 EXON Missense_R538C,Missense_R538C,Missense_R538C,Missense_R538C,Missense_R538C,Missense_R538C exm476109 5 130831341 [T/C] NM_001164388,NM_001164387,NM_016340,NM_001164386,NM_001164389,NM_001164390 RAPGEF6,RAPGEF6,RAPGEF6,RAPGEF6,RAPGEF6,RAPGEF6 EXON Missense_V478I,Missense_V478I,Missense_V478I,Missense_V478I,Missense_V478I,Missense_V478I exm2270132 5 130875538 [T/C] NM_001164388,NM_001164387,NM_016340,NM_001164386,NM_001164389,NM_001164390 RAPGEF6,RAPGEF6,RAPGEF6,RAPGEF6,RAPGEF6,RAPGEF6 Silent,Silent,Silent,Silent,Silent,Silent exm476158 5 130939019 [A/C] NM_001164388,NM_001164387,NM_016340,NM_001164386,NM_001164389,NM_001164390 RAPGEF6,RAPGEF6,RAPGEF6,RAPGEF6,RAPGEF6,RAPGEF6 EXON Missense_L48V,Missense_L48V,Missense_L48V,Missense_L48V,Missense_L48V,Missense_L48V exm2086001 5 130987503 [A/G] NM_001008738,NM_133372 FNIP1,FNIP1 EXON Missense_P1072S,Missense_P1100S exm476183 5 131007226 [A/C] NM_001008738,NM_133372 FNIP1,FNIP1 EXON Missense_A943S,Missense_A971S exm2086009 5 131007358 [T/C] NM_001008738,NM_133372 FNIP1,FNIP1 EXON Missense_V899I,Missense_V927I exm476192 5 131007425 [G/C] NM_001008738,NM_133372 FNIP1,FNIP1 EXON Missense_D876E,Missense_D904E exm476193 5 131007435 [T/G] NM_001008738,NM_133372 FNIP1,FNIP1 EXON Missense_P873H,Missense_P901H exm476196 5 131007487 [A/G] NM_001008738,NM_133372 FNIP1,FNIP1 EXON Missense_F856L,Missense_F884L exm476198 5 131007607 [T/C] NM_001008738,NM_133372 FNIP1,FNIP1 EXON Missense_I816V,Missense_I844V exm476210 5 131007925 [A/C] NM_001008738,NM_133372 FNIP1,FNIP1 EXON Missense_V710L,Missense_V738L exm476215 5 131008086 [A/G] NM_001008738,NM_133372 FNIP1,FNIP1 EXON Missense_T656I,Missense_T684I exm476219 5 131008194 [T/C] NM_001008738,NM_133372 FNIP1,FNIP1 EXON Missense_Q620R,Missense_Q648R exm476220 5 131008212 [T/C] NM_001008738,NM_133372 FNIP1,FNIP1 EXON Missense_G614E,Missense_G642E exm476225 5 131008410 [T/C] NM_001008738,NM_133372 FNIP1,FNIP1 EXON Missense_G548D,Missense_G576D exm476233 5 131008584 [T/C] NM_001008738,NM_133372 FNIP1,FNIP1 EXON Missense_R490Q,Missense_R518Q exm476243 5 131014810 [T/C] NM_001008738,NM_133372 FNIP1,FNIP1 EXON Missense_M393V,Missense_M421V exm476250 5 131039955 [T/C] NM_001008738,NM_133372 FNIP1,FNIP1 EXON Missense_I279V,Missense_I307V exm2256921 5 131052268 [A/C] NM_001008738,NM_133372 FNIP1,FNIP1 EXON Synonymous_L204L,Synonymous_L204L exm476265 5 131052285 [T/C] NM_001008738,NM_133372 FNIP1,FNIP1 EXON Missense_V199I,Missense_V199I exm476266 5 131052311 [T/C] NM_001008738,NM_133372 FNIP1,FNIP1 EXON Missense_N190S,Missense_N190S exm476267 5 131054691 [T/C] NM_001008738,NM_133372 FNIP1,FNIP1 EXON Missense_G173E,Missense_G173E exm476268 5 131054713 [A/G] NM_001008738,NM_133372 FNIP1,FNIP1 EXON Missense_R166W,Missense_R166W exm2274088 5 131054751 [A/G] NM_001008738,NM_133372 FNIP1,FNIP1 EXON Missense_S153F,Missense_S153F exm476280 5 131066709 [A/T] NM_001008738,NM_133372 FNIP1,FNIP1 EXON Missense_V81D,Missense_V81D exm476281 5 131066725 [A/C] NM_001008738,NM_133372 FNIP1,FNIP1 EXON Missense_G76C,Missense_G76C exm2273412 5 131289879 [T/C] NM_001205248,NM_001205250,NM_001009185,NM_001205247,NM_001205251,NM_015256 ACSL6,ACSL6,ACSL6,ACSL6,ACSL6,ACSL6 EXON Silent,Silent,Silent,Silent,Silent,Silent exm476291 5 131296236 [A/G] NM_001205248,NM_001205250,NM_001009185,NM_001205247,NM_001205251,NM_015256 ACSL6,ACSL6,ACSL6,ACSL6,ACSL6,ACSL6 EXON Missense_Y621H,Missense_Y632H,Missense_Y646H,Missense_Y611H,Missense_Y546H,Missense_Y646H exm476301 5 131302110 [A/G] NM_001205248,NM_001205250,NM_001009185,NM_001205247,NM_001205251,NM_015256 ACSL6,ACSL6,ACSL6,ACSL6,ACSL6,ACSL6 EXON Missense_P546L,Missense_P557L,Missense_P571L,Missense_P536L,Missense_P471L,Missense_P571L exm476304 5 131302170 [A/G] NM_001205248,NM_001205250,NM_001009185,NM_001205247,NM_001205251,NM_015256 ACSL6,ACSL6,ACSL6,ACSL6,ACSL6,ACSL6 EXON Missense_T526M,Missense_T537M,Missense_T551M,Missense_T516M,Missense_T451M,Missense_T551M exm2086055 5 131303680 [T/C] NM_001205248,NM_001205250,NM_001009185,NM_001205247,NM_001205251,NM_015256 ACSL6,ACSL6,ACSL6,ACSL6,ACSL6,ACSL6 EXON Missense_V492I,Missense_V503I,Missense_V517I,Missense_V482I,Missense_V417I,Missense_V517I exm2086059 5 131305853 [T/C] NM_001205248,NM_001205250,NM_001009185,NM_001205247,NM_001205251,NM_015256 ACSL6,ACSL6,ACSL6,ACSL6,ACSL6,ACSL6 EXON Missense_C467Y,Missense_C478Y,Missense_C492Y,Missense_C457Y,Missense_C392Y,Missense_C492Y exm2086064 5 131308422 [T/C] NM_001205248,NM_001205250,NM_001009185,NM_001205247,NM_001205251,NM_015256 ACSL6,ACSL6,ACSL6,ACSL6,ACSL6,ACSL6 EXON Missense_I420V,Missense_I431V,Missense_I445V,Missense_I410V,Missense_I345V,Missense_I445V exm476318 5 131308482 [T/C] NM_001205248,NM_001205250,NM_001009185,NM_001205247,NM_001205251,NM_015256 ACSL6,ACSL6,ACSL6,ACSL6,ACSL6,ACSL6 EXON Missense_E400K,Missense_E411K,Missense_E425K,Missense_E390K,Missense_E325K,Missense_E425K exm476320 5 131308521 [A/G] NM_001205248,NM_001205250,NM_001009185,NM_001205247,NM_001205251,NM_015256 ACSL6,ACSL6,ACSL6,ACSL6,ACSL6,ACSL6 EXON Missense_R387C,Missense_R398C,Missense_R412C,Missense_R377C,Missense_R312C,Missense_R412C exm2256923 5 131312380 [A/G] NM_001205248,NM_001205250,NM_001009185,NM_001205247,NM_001205251,NM_015256 ACSL6,ACSL6,ACSL6,ACSL6,ACSL6,ACSL6 EXON Synonymous_N292N,Synonymous_N303N,Synonymous_N317N,Synonymous_N282N,Synonymous_N257N,Synonymous_N317N exm476374 5 131325129 [T/A] NM_001205248,NM_001205250,NM_001009185,NM_001205247,NM_001205251,NM_015256 ACSL6,ACSL6,ACSL6,ACSL6,ACSL6,ACSL6 EXON Missense_I150F,Missense_I161F,Missense_I175F,Missense_I140F,Missense_I115F,Missense_I175F exm476375 5 131325138 [T/C] NM_001205248,NM_001205250,NM_001009185,NM_001205247,NM_001205251,NM_015256 ACSL6,ACSL6,ACSL6,ACSL6,ACSL6,ACSL6 EXON Missense_D147N,Missense_D158N,Missense_D172N,Missense_D137N,Missense_D112N,Missense_D172N exm476379 5 131325201 [T/C] NM_001205248,NM_001205250,NM_001009185,NM_001205247,NM_001205251,NM_015256 ACSL6,ACSL6,ACSL6,ACSL6,ACSL6,ACSL6 EXON Missense_V126M,Missense_V137M,Missense_V151M,Missense_V116M,Missense_V91M,Missense_V151M exm476383 5 131326566 [T/C] NM_001205248,NM_001205250,NM_001009185,NM_001205247,NM_001205251,NM_015256 ACSL6,ACSL6,ACSL6,ACSL6,ACSL6,ACSL6 EXON Missense_R97H,Missense_R108H,Missense_R122H,Missense_R87H,Missense_R62H,Missense_R122H exm2241645 5 131326592 [T/A] NM_001205248,NM_001205250,NM_001009185,NM_001205247,NM_001205251,NM_015256 ACSL6,ACSL6,ACSL6,ACSL6,ACSL6,ACSL6 EXON Missense_D88E,Missense_D99E,Missense_D113E,Missense_D78E,Missense_D53E,Missense_D113E exm476403 5 131396406 [T/C] NM_000588 IL3 EXON Missense_R3C exm476405 5 131396442 [T/C] NM_000588 IL3 EXON Missense_R15C exm476407 5 131396478 [T/C] NM_000588 IL3 EXON Missense_P27S exm476410 5 131396676 [A/G] NM_000588 IL3 EXON Missense_N60S exm476432 5 131398442 [A/T] NM_000588 IL3 EXON Missense_N139K exm476435 5 131398471 [T/C] NM_000588 IL3 EXON Missense_L149P exm476439 5 131409577 [T/C] NM_000758 CSF2 EXON Missense_R21C exm2241646 5 131409638 [A/G] NM_000758 CSF2 EXON Missense_R41H exm476449 5 131410552 [A/G] NM_000758 CSF2 EXON Missense_R84Q exm476454 5 131410628 [A/G] NM_000758 CSF2 EXON Synonymous_P109P exm476455 5 131411454 [T/C] NM_000758 CSF2 EXON Missense_T115I exm476456 5 131411460 [T/C] NM_000758 CSF2 EXON Missense_I117T exm2266005 5 131447104 [A/G] exm476474 5 131533954 [T/C] NM_001142599,NM_004199,NM_001017974,NM_001142598,NM_001017973 P4HA2,P4HA2,P4HA2,P4HA2,P4HA2 EXON Missense_R439Q,Missense_R439Q,Silent,Silent,Silent exm476478 5 131534014 [A/G] NM_001142599,NM_004199,NM_001017974,NM_001142598,NM_001017973 P4HA2,P4HA2,P4HA2,P4HA2,P4HA2 EXON Silent,Silent,Synonymous_Y455Y,Synonymous_Y455Y,Synonymous_Y455Y exm476483 5 131534579 [A/C] NM_001142599,NM_004199,NM_001017974,NM_001142598,NM_001017973 P4HA2,P4HA2,P4HA2,P4HA2,P4HA2 EXON Missense_F433C,Missense_F433C,Missense_F433C,Missense_F433C,Missense_F433C exm476489 5 131539493 [T/C] NM_001142599,NM_004199,NM_001017974,NM_001142598,NM_001017973 P4HA2,P4HA2,P4HA2,P4HA2,P4HA2 EXON Missense_R400H,Missense_R400H,Missense_R400H,Missense_R400H,Missense_R400H exm476509 5 131543541 [A/G] NM_001142599,NM_004199,NM_001017974,NM_001142598,NM_001017973 P4HA2,P4HA2,P4HA2,P4HA2,P4HA2 EXON Missense_H314Y,Missense_H314Y,Missense_H314Y,Missense_H314Y,Missense_H314Y exm476518 5 131545991 [T/C] NM_001142599,NM_004199,NM_001017974,NM_001142598,NM_001017973 P4HA2,P4HA2,P4HA2,P4HA2,P4HA2 EXON Missense_R232H,Missense_R232H,Missense_R232H,Missense_R232H,Missense_R232H exm476519 5 131545995 [A/G] NM_001142599,NM_004199,NM_001017974,NM_001142598,NM_001017973 P4HA2,P4HA2,P4HA2,P4HA2,P4HA2 EXON Missense_R231C,Missense_R231C,Missense_R231C,Missense_R231C,Missense_R231C exm476521 5 131546032 [G/C] NM_001142599,NM_004199,NM_001017974,NM_001142598,NM_001017973 P4HA2,P4HA2,P4HA2,P4HA2,P4HA2 EXON Missense_F218L,Missense_F218L,Missense_F218L,Missense_F218L,Missense_F218L exm476528 5 131549608 [A/C] NM_001142599,NM_004199,NM_001017974,NM_001142598,NM_001017973 P4HA2,P4HA2,P4HA2,P4HA2,P4HA2 Silent,Silent,Silent,Silent,Silent exm476529 5 131549612 [A/G] NM_001142599,NM_004199,NM_001017974,NM_001142598,NM_001017973 P4HA2,P4HA2,P4HA2,P4HA2,P4HA2 EXON Missense_P156S,Missense_P156S,Missense_P156S,Missense_P156S,Missense_P156S exm476535 5 131549720 [A/G] NM_001142599,NM_004199,NM_001017974,NM_001142598,NM_001017973 P4HA2,P4HA2,P4HA2,P4HA2,P4HA2 EXON Missense_R120W,Missense_R120W,Missense_R120W,Missense_R120W,Missense_R120W exm476540 5 131552995 [A/C] NM_001142599,NM_004199,NM_001017974,NM_001142598,NM_001017973 P4HA2,P4HA2,P4HA2,P4HA2,P4HA2 EXON Missense_A76S,Missense_A76S,Missense_A76S,Missense_A76S,Missense_A76S exm476562 5 131598428 [A/G] NM_003687,NM_001131027 PDLIM4,PDLIM4 EXON Missense_D74N,Missense_D74N exm476574 5 131606692 [A/G] NM_003687,NM_001131027 PDLIM4,PDLIM4 EXON Missense_G138R,Missense_G138R exm476583 5 131607039 [A/G] NM_003687,NM_001131027 PDLIM4,PDLIM4 EXON Missense_V184I,Missense_V184I exm476587 5 131607096 [A/G] NM_003687,NM_001131027 PDLIM4,PDLIM4 EXON Missense_A203T,Missense_A203T exm476603 5 131607721 [T/C] NM_003687,NM_001131027 PDLIM4,PDLIM4 EXON Synonymous_G264G,Missense_A225V exm476604 5 131607768 [T/C] NM_003687,NM_001131027 PDLIM4,PDLIM4 EXON Missense_M280T,Missense_C241R exm476635 5 131647935 [A/G] NM_003059,NR_037898 SLC22A4,LOC553103 EXON Missense_V159M,Silent exm476641 5 131649405 [T/A] NM_003059,NR_037898 SLC22A4,LOC553103 EXON Nonsense_L199X,Silent exm2241650 5 131649416 [A/G] NM_003059,NR_037898 SLC22A4,LOC553103 EXON Missense_V203M,Silent exm476649 5 131657904 [A/G] NM_003059,NR_037898 SLC22A4,LOC553103 EXON Missense_R227H,Silent exm476650 5 131657923 [A/T] NM_003059,NR_037898 SLC22A4,LOC553103 EXON Missense_L233F,Silent exm476666 5 131663062 [T/C] NM_003059,NR_037898 SLC22A4,LOC553103 EXON Missense_I306T,Silent exm-rs273909 5 131667353 [A/G] NM_003059,NR_037898 SLC22A4,LOC553103 Silent,Silent exm476675 5 131670545 [T/C] NM_003059,NR_037898 SLC22A4,LOC553103 EXON Missense_T394I,Silent exm476679 5 131671540 [A/G] NM_003059,NR_037898 SLC22A4,LOC553103 EXON Missense_M431V,Silent exm476687 5 131671639 [A/G] NM_003059,NR_037898 SLC22A4,LOC553103 EXON Missense_T464A,Silent exm476689 5 131671693 [A/G] NM_003059,NR_037898 SLC22A4,LOC553103 EXON Missense_G482S,Silent exm476696 5 131676320 [T/C] NM_003059,NR_037898 SLC22A4,LOC553103 EXON Missense_L503F,Silent exm476698 5 131676371 [C/G] NM_003059,NR_037898 SLC22A4,LOC553103 EXON Missense_E520Q,Silent exm-rs274546 5 131699867 [A/G] NR_037898 LOC553103 Silent exm476714 5 131705800 [T/C] NM_003060 SLC22A5 EXON Missense_P46S exm476722 5 131706028 [T/G] NM_003060 SLC22A5 EXON Missense_D122Y exm476726 5 131714106 [T/C] NM_003060 SLC22A5 EXON Missense_L144F exm476732 5 131719870 [A/G] NM_003060 SLC22A5 EXON Missense_M177V exm476735 5 131719946 [T/C] NM_003060 SLC22A5 EXON Missense_L202P exm476741 5 131721062 [T/C] NM_003060 SLC22A5 EXON Missense_T232M exm476743 5 131721127 [A/C] NM_003060 SLC22A5 EXON Synonymous_R254R exm476748 5 131721178 [A/G] NM_003060 SLC22A5 EXON Missense_V271M exm476757 5 131722826 [A/G] NM_003060 SLC22A5 EXON Missense_I312V exm-rs2073643 5 131723288 [T/C] NM_003060 SLC22A5 Silent exm476767 5 131726471 [T/C] NM_003060 SLC22A5 EXON Missense_M381T exm476768 5 131726522 [T/C] NM_003060 SLC22A5 EXON Missense_P398L exm476770 5 131726578 [A/G] NM_003060 SLC22A5 EXON Missense_M417V exm476773 5 131728202 [T/G] NM_003060 SLC22A5 EXON Missense_Y449D exm2274089 5 131728257 [C/G] NM_003060 SLC22A5 EXON Missense_S467C exm476781 5 131728298 [A/G] NM_003060 SLC22A5 EXON Missense_V481I exm476782 5 131729368 [T/G] NM_003060 SLC22A5 EXON Missense_G484V exm476783 5 131729370 [A/G] NM_003060 SLC22A5 EXON Missense_A485T exm476784 5 131729380 [A/G] NM_003060 SLC22A5 EXON Missense_R488H exm476789 5 131729496 [C/G] NM_003060 SLC22A5 EXON Missense_V527L exm476790 5 131729503 [T/G] NM_003060 SLC22A5 EXON Missense_G529V exm476792 5 131729880 [T/G] NM_003060 SLC22A5 EXON Missense_M530I exm476795 5 131729935 [T/C] NM_003060 SLC22A5 EXON Missense_P549S exm-rs6596075 5 131742228 [G/C] exm-rs1016988 5 131744574 [T/C] exm476800 5 131755603 [A/G] NR_045116 C5orf56 EXON Silent exm-rs2188962 5 131770805 [T/C] NR_045116 C5orf56 Silent exm-rs12521868 5 131784393 [T/G] NR_045116 C5orf56 Silent exm-rs2522056 5 131801726 [A/G] NR_045116 C5orf56 Silent exm476842 5 131820131 [T/C] NM_002198 IRF1 EXON Missense_N259S exm476858 5 131822269 [A/G] NM_002198 IRF1 EXON Missense_V175A exm476871 5 131822811 [G/C] NM_002198 IRF1 EXON Missense_A67P exm-rs4705952 5 131839618 [A/G] exm-rs4143832 5 131862977 [T/G] exm-rs2706399 5 131867702 [A/G] exm2256925 5 131870689 [T/C] exm2086279 5 131877734 [T/G] NM_000879 IL5 EXON Missense_L93F exm476882 5 131878817 [A/G] NM_000879 IL5 EXON Missense_T49I exm476887 5 131879053 [A/G] NM_000879 IL5 EXON Missense_H40Y exm476892 5 131879122 [T/C] NM_000879 IL5 EXON Missense_V17M exm-rs2244012 5 131901225 [A/G] NM_005732 RAD50 Silent exm476908 5 131911520 [A/G] NM_005732 RAD50 EXON Missense_V89I exm476909 5 131911535 [A/C] NM_005732 RAD50 EXON Missense_I94L exm476914 5 131915022 [A/G] NM_005732 RAD50 EXON Missense_V127I exm476921 5 131915574 [T/C] NM_005732 RAD50 EXON Missense_T191I exm476923 5 131915612 [A/G] NM_005732 RAD50 EXON Missense_K204E exm476925 5 131915673 [A/G] NM_005732 RAD50 EXON Missense_R224H exm476927 5 131915697 [A/C] NM_005732 RAD50 EXON Missense_A232D exm476935 5 131923710 [A/G] NM_005732 RAD50 EXON Missense_R327H exm476941 5 131924421 [A/G] NM_005732 RAD50 EXON Missense_R365Q exm476944 5 131924481 [A/G] NM_005732 RAD50 EXON Missense_R385H exm476947 5 131924538 [A/G] NM_005732 RAD50 EXON Missense_Q404R exm476950 5 131925354 [A/G] NM_005732 RAD50 EXON Missense_Q426R exm476951 5 131925413 [A/G] NM_005732 RAD50 EXON Missense_K446E exm476952 5 131925479 [A/G] NM_005732 RAD50 EXON Missense_E468K exm476953 5 131925483 [G/C] NM_005732 RAD50 EXON Missense_G469A exm476956 5 131926997 [T/G] NM_005732 RAD50 EXON Missense_A512S exm476957 5 131927007 [A/G] NM_005732 RAD50 EXON Missense_D515G exm476961 5 131927067 [A/G] NM_005732 RAD50 EXON Missense_R535H exm476964 5 131927596 [A/G] NM_005732 RAD50 EXON Missense_I555V exm476976 5 131930642 [C/G] NM_005732 RAD50 EXON Nonsense_Y625X exm476977 5 131930678 [T/A] NM_005732 RAD50 EXON Missense_D637E exm476993 5 131939072 [A/G] NM_005732 RAD50 EXON Missense_R763H exm476998 5 131939181 [C/G] NM_005732 RAD50 EXON Missense_Q799H exm477004 5 131940536 [T/G] NM_005732 RAD50 EXON Missense_D855Y exm477007 5 131940620 [T/C] NM_005732 RAD50 EXON Missense_R883C exm477018 5 131951780 [A/G] NM_005732 RAD50 EXON Missense_H1041R exm477026 5 131953850 [A/G] NM_005732 RAD50 EXON Missense_I1085V exm477035 5 131972872 [A/G] NM_005732 RAD50 EXON Missense_R1152Q exm-rs2040704 5 131973177 [A/G] NM_005732 RAD50 Silent exm2086331 5 131977907 [T/C] NM_005732 RAD50 EXON Missense_L1264F exm2256926 5 131994031 [A/C] NM_002188 IL13 EXON Synonymous_V51V exm477062 5 131995114 [T/C] NM_002188 IL13 EXON Missense_P60L exm477067 5 131995150 [T/C] NM_002188 IL13 EXON Missense_L72P exm477068 5 131995423 [A/C] NM_002188 IL13 EXON Missense_A79E exm-rs1295686 5 131995843 [T/C] NM_002188 IL13 Silent exm477076 5 131995889 [A/G] NM_002188 IL13 EXON Missense_R119Q exm477078 5 131995906 [A/G] NM_002188 IL13 EXON Missense_V125M exm477080 5 131995964 [A/G] NM_002188 IL13 EXON Missense_Q144R exm2086348 5 132009785 [T/C] NM_000589,NM_172348 IL4,IL4 EXON Synonymous_L15L,Synonymous_L15L exm2256927 5 132009785 [T/C] NM_000589,NM_172348 IL4,IL4 EXON Synonymous_L15L,Synonymous_L15L exm477090 5 132010172 [A/G] NM_000589,NM_172348 IL4,IL4 EXON Missense_V53I,Silent exm477094 5 132015443 [T/C] NM_000589,NM_172348 IL4,IL4 EXON Missense_T74I,Missense_T58I exm477099 5 132015548 [A/G] NM_000589,NM_172348 IL4,IL4 EXON Missense_R109Q,Missense_R93Q exm477113 5 132032369 [T/C] NM_007054 KIF3A EXON Missense_R686H exm477123 5 132035936 [T/G] NM_007054 KIF3A EXON Missense_T633N exm477132 5 132037789 [T/C] NM_007054 KIF3A EXON Missense_R598Q exm2241653 5 132061858 [A/G] NM_007054 KIF3A EXON Missense_R158C exm477163 5 132070103 [T/C] NM_007054 KIF3A EXON Missense_N25S exm2270246 5 132074695 [T/C] exm477170 5 132083209 [T/C] NM_001039780 CCNI2 EXON Missense_P8S exm477187 5 132084106 [T/C] NM_001039780 CCNI2 EXON Missense_F166S exm477192 5 132085115 [G/C] NM_001039780 CCNI2 Silent exm477202 5 132087697 [A/G] NM_001039780,NM_001098811 CCNI2,SEPT8 EXON Missense_E272K,Silent exm477210 5 132088577 [A/G] NM_001039780,NM_001098811 CCNI2,SEPT8 EXON Missense_S342N,Silent exm477218 5 132094235 [A/C] NM_001098811,NM_001098813,NM_001098812,NM_015146 SEPT8,SEPT8,SEPT8,SEPT8 EXON Silent,Silent,Missense_S434A,Silent exm477232 5 132096569 [T/G] NM_001098811,NM_001098813,NM_001098812,NM_015146 SEPT8,SEPT8,SEPT8,SEPT8 EXON Missense_A404E,Missense_A344E,Missense_A404E,Missense_A404E exm477235 5 132096590 [T/G] NM_001098811,NM_001098813,NM_001098812,NM_015146 SEPT8,SEPT8,SEPT8,SEPT8 EXON Missense_A397D,Missense_A337D,Missense_A397D,Missense_A397D exm477238 5 132096638 [T/C] NM_001098811,NM_001098813,NM_001098812,NM_015146 SEPT8,SEPT8,SEPT8,SEPT8 EXON Missense_K381R,Missense_K321R,Missense_K381R,Missense_K381R exm477239 5 132096656 [T/C] NM_001098811,NM_001098813,NM_001098812,NM_015146 SEPT8,SEPT8,SEPT8,SEPT8 EXON Missense_R375Q,Missense_R315Q,Missense_R375Q,Missense_R375Q exm477241 5 132096880 [A/G] NM_001098811,NM_001098813,NM_001098812,NM_015146 SEPT8,SEPT8,SEPT8,SEPT8 EXON Missense_M347T,Missense_M287T,Missense_M347T,Missense_M347T exm477244 5 132097207 [T/C] NM_001098811,NM_001098813,NM_001098812,NM_015146 SEPT8,SEPT8,SEPT8,SEPT8 EXON Missense_R302H,Missense_R242H,Missense_R302H,Missense_R302H exm477247 5 132097244 [T/C] NM_001098811,NM_001098813,NM_001098812,NM_015146 SEPT8,SEPT8,SEPT8,SEPT8 EXON Missense_E290K,Missense_E230K,Missense_E290K,Missense_E290K exm477276 5 132100012 [T/C] NM_001098811,NM_001098813,NM_001098812,NM_015146 SEPT8,SEPT8,SEPT8,SEPT8 EXON Missense_R84Q,Missense_R24Q,Missense_R84Q,Missense_R84Q exm477283 5 132101139 [A/G] NM_001098811,NM_001098813,NM_001098812,NM_015146 SEPT8,SEPT8,SEPT8,SEPT8 EXON Missense_S38L,Silent,Missense_S38L,Missense_S38L exm-rs803137 5 132132647 [A/G] exm477326 5 132150484 [G/C] NM_175873 SOWAHA EXON Missense_L391V exm477331 5 132150593 [T/G] NM_175873 SOWAHA EXON Missense_R427L exm477334 5 132150706 [A/G] NM_175873 SOWAHA EXON Missense_V465I exm477344 5 132150948 [T/G] NM_175873 SOWAHA EXON Missense_F545L exm477360 5 132158802 [T/G] NM_001172700,NM_133456 SHROOM1,SHROOM1 EXON Missense_L749I,Missense_L744I exm477364 5 132159082 [A/G] NM_001172700,NM_133456 SHROOM1,SHROOM1 EXON Missense_P696S,Missense_P696S exm477373 5 132159323 [T/C] NM_001172700,NM_133456 SHROOM1,SHROOM1 EXON Missense_G649S,Missense_G649S exm477384 5 132159576 [T/C] NM_001172700,NM_133456 SHROOM1,SHROOM1 EXON Missense_A593T,Missense_A593T exm477386 5 132159588 [G/C] NM_001172700,NM_133456 SHROOM1,SHROOM1 EXON Missense_A589P,Missense_A589P exm477388 5 132159594 [A/G] NM_001172700,NM_133456 SHROOM1,SHROOM1 EXON Missense_R587W,Missense_R587W exm477404 5 132159914 [A/G] NM_001172700,NM_133456 SHROOM1,SHROOM1 EXON Missense_P480L,Missense_P480L exm477407 5 132159990 [T/G] NM_001172700,NM_133456 SHROOM1,SHROOM1 EXON Missense_Q455K,Missense_Q455K exm477411 5 132160034 [A/G] NM_001172700,NM_133456 SHROOM1,SHROOM1 EXON Missense_P440L,Missense_P440L exm2086475 5 132160424 [T/G] NM_001172700,NM_133456 SHROOM1,SHROOM1 EXON Missense_T375N,Missense_T375N exm477440 5 132161157 [T/G] NM_001172700,NM_133456 SHROOM1,SHROOM1 EXON Missense_P226T,Missense_P226T exm477456 5 132161699 [T/G] NM_001172700,NM_133456 SHROOM1,SHROOM1 EXON Missense_P45Q,Missense_P45Q exm477461 5 132161784 [T/C] NM_001172700,NM_133456 SHROOM1,SHROOM1 EXON Missense_T17A,Missense_T17A exm477469 5 132197286 [A/G] NM_005260 GDF9 EXON Missense_R454C exm2086482 5 132197363 [C/G] NM_005260 GDF9 EXON Missense_S428T exm477477 5 132197371 [T/G] NM_005260 GDF9 EXON Missense_S425R exm477478 5 132197396 [A/G] NM_005260 GDF9 EXON Missense_P417L exm477481 5 132197442 [T/C] NM_005260 GDF9 EXON Missense_V402I exm477487 5 132197518 [A/C] NM_005260 GDF9 EXON Missense_R376S exm477489 5 132197558 [T/C] NM_005260 GDF9 EXON Missense_S363N exm2086489 5 132198210 [A/G] NM_005260 GDF9 EXON Missense_R146C exm477518 5 132199864 [A/G] NM_005260 GDF9 EXON Missense_T121I exm477520 5 132199903 [T/C] NM_005260 GDF9 EXON Missense_S108N exm477521 5 132199919 [A/G] NM_005260 GDF9 EXON Missense_P103S exm477528 5 132200054 [T/C] NM_005260 GDF9 EXON Missense_R58G exm2086491 5 132200057 [A/C] NM_005260 GDF9 EXON Missense_D57Y exm2086492 5 132200108 [A/C] NM_005260 GDF9 EXON Missense_L40V exm477531 5 132200141 [T/C] NM_005260 GDF9 EXON Missense_G29R exm477539 5 132202583 [A/G] NM_014402 UQCRQ EXON Missense_E4K exm477561 5 132209417 [A/G] NM_052971 LEAP2 EXON Missense_M11V exm477562 5 132209419 [T/G] NM_052971 LEAP2 EXON Missense_M11I exm477569 5 132209649 [A/G] NM_052971 LEAP2 EXON Missense_G22D exm477573 5 132209691 [A/G] NM_052971 LEAP2 EXON Missense_R36Q exm477585 5 132219077 [T/C] NM_014423 AFF4 EXON Missense_T1107A exm477602 5 132224834 [A/G] NM_014423 AFF4 EXON Missense_P890L exm477618 5 132232148 [C/G] NM_014423 AFF4 EXON Missense_R725T exm477626 5 132232395 [T/C] NM_014423 AFF4 EXON Missense_I643V exm477629 5 132232487 [T/C] NM_014423 AFF4 EXON Missense_N612S exm477635 5 132232736 [A/G] NM_014423 AFF4 EXON Missense_P529L exm477651 5 132269839 [A/G] NM_014423 AFF4 EXON Synonymous_D306D exm477668 5 132270203 [A/T] NM_014423 AFF4 EXON Missense_Q185L exm2241658 5 132270228 [A/G] NM_014423 AFF4 EXON Missense_R177C exm477672 5 132270285 [T/G] NM_014423 AFF4 EXON Missense_N158H exm2256930 5 132270304 [A/G] NM_014423 AFF4 EXON Synonymous_H151H exm477674 5 132270330 [T/C] NM_014423 AFF4 EXON Missense_G143S exm477675 5 132270351 [T/G] NM_014423 AFF4 EXON Missense_T136P exm477693 5 132334474 [T/C] NM_017665 ZCCHC10 EXON Missense_S105N exm477707 5 132362202 [A/C] NM_017665 ZCCHC10 EXON Missense_A10S exm477716 5 132403181 [T/G] NM_002154 HSPA4 EXON Missense_V80L exm477719 5 132406153 [A/G] NM_002154 HSPA4 EXON Missense_V132I exm477724 5 132408967 [A/G] NM_002154 HSPA4 EXON Missense_A159T exm2241659 5 132409020 [A/G] NM_002154 HSPA4 EXON Synonymous_A176A exm477740 5 132412544 [A/G] NM_002154 HSPA4 EXON Missense_I288V exm477746 5 132422533 [A/G] NM_002154 HSPA4 EXON Missense_S323N exm477763 5 132426998 [A/G] NM_002154 HSPA4 EXON Missense_V498M exm477780 5 132435240 [C/G] NM_002154 HSPA4 EXON Missense_R645G exm477783 5 132435268 [A/G] NM_002154 HSPA4 EXON Missense_D654G exm477786 5 132437472 [A/G] NM_002154 HSPA4 EXON Missense_I687V exm477788 5 132437499 [T/C] NM_002154 HSPA4 EXON Missense_P696S exm477794 5 132439700 [G/C] NM_002154 HSPA4 EXON Missense_E767D exm477798 5 132439988 [C/G] NM_002154 HSPA4 EXON Missense_E795Q exm477802 5 132440096 [A/G] NM_002154 HSPA4 EXON Missense_D831N exm477807 5 132534846 [A/G] NM_015082 FSTL4 EXON Missense_R824W exm2277289 5 132534887 [A/C] NM_015082 FSTL4 EXON Missense_R810L exm477815 5 132534952 [A/C] NM_015082 FSTL4 EXON Missense_W788C exm477817 5 132534965 [A/G] NM_015082 FSTL4 EXON Missense_P784L exm477823 5 132535046 [A/G] NM_015082 FSTL4 EXON Missense_T757M exm477830 5 132535191 [A/G] NM_015082 FSTL4 EXON Missense_P709S exm477840 5 132535382 [T/C] NM_015082 FSTL4 EXON Missense_Q645R exm477844 5 132535433 [T/G] NM_015082 FSTL4 EXON Missense_T628K exm477848 5 132537701 [A/G] NM_015082 FSTL4 EXON Missense_H584Y exm477849 5 132537712 [A/C] NM_015082 FSTL4 EXON Missense_G580V exm477859 5 132553001 [A/G] NM_015082 FSTL4 EXON Missense_R510W exm477862 5 132556441 [T/C] NM_015082 FSTL4 EXON Missense_Y486C exm477867 5 132556508 [T/C] NM_015082 FSTL4 EXON Missense_V464I exm477869 5 132556520 [T/C] NM_015082 FSTL4 EXON Missense_D460N exm477871 5 132556523 [T/C] NM_015082 FSTL4 EXON Missense_D459N exm477882 5 132560967 [T/C] NM_015082 FSTL4 EXON Missense_S396N exm477889 5 132561468 [A/C] NM_015082 FSTL4 EXON Missense_E353D exm2266006 5 132573216 [A/G] NM_015082 FSTL4 Silent exm477900 5 132585176 [T/C] NM_015082 FSTL4 EXON Missense_G274R exm477901 5 132585178 [T/G] NM_015082 FSTL4 EXON Missense_H273P exm477902 5 132585182 [T/C] NM_015082 FSTL4 EXON Missense_V272I exm2270247 5 132605601 [T/C] NM_015082 FSTL4 Silent exm477924 5 132652159 [G/C] NM_015082 FSTL4 EXON Missense_L199V exm477926 5 132652182 [T/C] NM_015082 FSTL4 EXON Missense_N191S exm477929 5 132652228 [A/G] NM_015082 FSTL4 EXON Missense_R176C exm477930 5 132652244 [T/G] NM_015082 FSTL4 EXON Missense_D170E exm477931 5 132652281 [T/C] NM_015082 FSTL4 EXON Missense_R158H exm477935 5 132652318 [T/C] NM_015082 FSTL4 EXON Missense_A146T exm477945 5 132736547 [T/C] NM_015082 FSTL4 EXON Missense_V98M exm2256932 5 132754003 [A/G] NM_015082 FSTL4 Silent exm477981 5 133295371 [C/G] NM_020199 C5orf15 EXON Missense_R160S exm477986 5 133295504 [A/G] NM_020199 C5orf15 EXON Missense_A116V exm477988 5 133295549 [A/G] NM_020199 C5orf15 EXON Missense_S101F exm477989 5 133295579 [A/G] NM_020199 C5orf15 EXON Missense_T91M exm477991 5 133295669 [C/G] NM_020199 C5orf15 EXON Nonsense_S61X exm2256933 5 133304246 [T/C] NM_020199 C5orf15 EXON Synonymous_R10R exm478026 5 133326719 [T/C] NR_036625,NR_036624,NM_003374 VDAC1,VDAC1,VDAC1 EXON Silent,Silent,Missense_G82S exm2266008 5 133416258 [A/G] exm2261831 5 133439635 [A/G] exm478062 5 133451611 [T/C] NM_003202,NM_201634,NM_213648,NM_201632,NM_001134851,NR_033449 TCF7,TCF7,TCF7,TCF7,TCF7,TCF7 EXON Missense_P110S,Silent,Silent,Silent,Silent,Silent exm478063 5 133451615 [A/C] NM_003202,NM_201634,NM_213648,NM_201632,NM_001134851,NR_033449 TCF7,TCF7,TCF7,TCF7,TCF7,TCF7 EXON Missense_E111A,Silent,Silent,Silent,Silent,Silent exm478065 5 133451683 [A/C] NM_003202,NM_201634,NM_213648,NM_201632,NM_001134851,NR_033449 TCF7,TCF7,TCF7,TCF7,TCF7,TCF7 EXON Missense_P134T,Missense_P19T,Missense_P19T,Missense_P19T,Missense_P19T,Silent exm478092 5 133478444 [A/C] NM_003202,NM_201634,NM_213648,NM_201632,NM_001134851,NR_033449 TCF7,TCF7,TCF7,TCF7,TCF7,TCF7 EXON Missense_E263A,Missense_E148A,Missense_E148A,Missense_E148A,Missense_E148A,Silent exm478109 5 133479316 [G/C] NM_003202,NM_201634,NM_213648,NM_201632,NM_001134851,NR_033449 TCF7,TCF7,TCF7,TCF7,TCF7,TCF7 EXON Missense_Q354E,Missense_Q239E,Missense_Q239E,Missense_Q239E,Missense_Q239E,Silent exm478113 5 133480486 [A/G] NM_003202,NM_201634,NM_213648,NM_201632,NM_001134851,NR_033449 TCF7,TCF7,TCF7,TCF7,TCF7,TCF7 Silent,Silent,Silent,Silent,Silent,Silent exm478115 5 133480512 [A/G] NM_003202,NM_201634,NM_213648,NM_201632,NM_001134851,NR_033449 TCF7,TCF7,TCF7,TCF7,TCF7,TCF7 EXON Silent,Missense_R252H,Silent,Silent,Silent,Silent exm478120 5 133481435 [T/C] NM_003202,NM_201634,NM_213648,NM_201632,NM_001134851,NR_033449 TCF7,TCF7,TCF7,TCF7,TCF7,TCF7 EXON Silent,Silent,Silent,Silent,Missense_T245I,Silent exm478123 5 133481467 [A/G] NM_003202,NM_201634,NM_213648,NM_201632,NM_001134851,NR_033449 TCF7,TCF7,TCF7,TCF7,TCF7,TCF7 EXON Silent,Silent,Silent,Silent,Missense_G256R,Silent exm478124 5 133481488 [T/C] NM_003202,NM_201634,NM_213648,NM_201632,NM_001134851,NR_033449 TCF7,TCF7,TCF7,TCF7,TCF7,TCF7 EXON Silent,Silent,Silent,Silent,Missense_S263P,Silent exm2086750 5 133481986 [T/G] NM_003202,NM_201634,NM_213648,NM_201632,NM_001134851,NR_033449 TCF7,TCF7,TCF7,TCF7,TCF7,TCF7 EXON Missense_V383L,Silent,Missense_V268L,Missense_V268L,Silent,Silent exm478160 5 133534797 [A/G] NM_002715 PPP2CA EXON Synonymous_D279D exm2256935 5 133534797 [A/G] NM_002715 PPP2CA EXON Synonymous_D279D exm478183 5 133561491 [T/C] NM_002715,NR_037434 PPP2CA,MIR3661 EXON Missense_K21R,Silent exm478193 5 133640228 [A/G] NM_001113575 CDKL3 EXON Nonsense_R497X exm478196 5 133642326 [T/C] NM_001113575 CDKL3 EXON Missense_R478G exm478203 5 133644012 [A/G] NM_001113575,NM_016508 CDKL3,CDKL3 EXON Missense_M394T,Missense_M394T exm478204 5 133644061 [A/G] NM_001113575,NM_016508 CDKL3,CDKL3 EXON Missense_Y378H,Missense_Y378H exm478207 5 133644137 [A/C] NM_001113575,NM_016508 CDKL3,CDKL3 EXON Missense_K352N,Missense_K352N exm478209 5 133644306 [T/C] NM_001113575,NM_016508 CDKL3,CDKL3 EXON Missense_V332I,Missense_V332I exm478212 5 133648047 [T/C] NM_001113575,NM_016508 CDKL3,CDKL3 EXON Missense_D273N,Missense_D273N exm478220 5 133686006 [A/G] NM_001113575,NM_016508 CDKL3,CDKL3 EXON Missense_T158M,Missense_T158M exm478223 5 133695592 [T/C] NM_001113575,NM_016508 CDKL3,CDKL3 EXON Missense_N119S,Missense_N119S exm478224 5 133695604 [T/C] NM_001113575,NM_016508 CDKL3,CDKL3 EXON Missense_Y115C,Missense_Y115C exm2086808 5 133702147 [T/C] NM_001113575,NM_016508 CDKL3,CDKL3 EXON Missense_H23R,Missense_H23R exm478247 5 133745634 [T/G] NM_080656 CDKN2AIPNL EXON Missense_D100A exm478257 5 133747487 [G/C] NM_080656 CDKN2AIPNL EXON Missense_A20G exm2270134 5 133837061 [T/G] exm-rs13187289 5 133849177 [G/C] exm-rs11949657 5 133869935 [A/C] NM_015288 PHF15 Silent exm478268 5 133871567 [T/A] NM_015288 PHF15 EXON Missense_K7I exm478284 5 133887868 [A/G] NM_015288 PHF15 EXON Missense_G94R exm478288 5 133895603 [T/C] NM_015288 PHF15 EXON Missense_P132L exm478294 5 133895651 [A/G] NM_015288 PHF15 EXON Missense_E148G exm478320 5 133901939 [T/G] NM_015288 PHF15 EXON Missense_G368V exm478321 5 133901944 [T/C] NM_015288 PHF15 EXON Missense_R370C exm478337 5 133909375 [T/C] NM_015288 PHF15 EXON Missense_T492M exm2086861 5 133914380 [A/C] NM_015288 PHF15 EXON Missense_D582E exm478348 5 133914417 [G/C] NM_015288 PHF15 EXON Missense_R595G exm478352 5 133914474 [A/G] NM_015288 PHF15 EXON Missense_G614R exm478358 5 133914568 [A/G] NM_015288 PHF15 EXON Missense_R645K exm478359 5 133914601 [T/C] NM_015288 PHF15 EXON Missense_P656L exm478365 5 133914640 [T/C] NM_015288 PHF15 EXON Missense_T669I exm478370 5 133914663 [A/G] NM_015288 PHF15 EXON Missense_A677T exm478374 5 133914754 [A/G] NM_015288 PHF15 EXON Missense_R707Q exm478382 5 133914855 [A/G] NM_015288 PHF15 EXON Missense_V741I exm2086873 5 133942665 [T/C] NM_016103,NM_001033503 SAR1B,SAR1B EXON Missense_R191H,Missense_R191H exm478422 5 133996892 [A/C] NM_021982,NM_001252231 SEC24A,SEC24A EXON Missense_P61T,Missense_P61T exm478425 5 133996938 [A/G] NM_021982,NM_001252231 SEC24A,SEC24A EXON Missense_Y76C,Missense_Y76C exm478429 5 133997013 [A/C] NM_021982,NM_001252231 SEC24A,SEC24A EXON Missense_H101P,Missense_H101P exm478431 5 133997033 [A/G] NM_021982,NM_001252231 SEC24A,SEC24A EXON Missense_M108V,Missense_M108V exm478432 5 133997085 [T/G] NM_021982,NM_001252231 SEC24A,SEC24A EXON Missense_S125I,Missense_S125I exm478435 5 133997162 [T/C] NM_021982,NM_001252231 SEC24A,SEC24A EXON Missense_H151Y,Missense_H151Y exm478436 5 133997168 [T/C] NM_021982,NM_001252231 SEC24A,SEC24A EXON Missense_P153S,Missense_P153S exm478437 5 133997171 [T/C] NM_021982,NM_001252231 SEC24A,SEC24A EXON Missense_R154C,Missense_R154C exm478444 5 134002606 [A/C] NM_021982,NM_001252231 SEC24A,SEC24A EXON Missense_P220Q,Missense_P220Q exm478449 5 134007540 [A/G] NM_021982,NM_001252231 SEC24A,SEC24A EXON Missense_S261G,Missense_S261G exm478456 5 134010341 [A/G] NM_021982,NM_001252231 SEC24A,SEC24A EXON Missense_S285N,Missense_S285N exm478459 5 134010400 [C/G] NM_021982,NM_001252231 SEC24A,SEC24A EXON Missense_P305A,Missense_P305A exm2086917 5 134022540 [A/G] NM_021982,NM_001252231 SEC24A,SEC24A EXON Missense_E518K,Missense_E518K exm478490 5 134023963 [A/G] NM_021982,NM_001252231 SEC24A,SEC24A EXON Missense_Q566R,Missense_Q566R exm478497 5 134032900 [T/C] NM_021982 SEC24A EXON Missense_L691F exm478502 5 134033675 [C/G] NM_021982 SEC24A EXON Missense_Q732E exm478513 5 134041076 [A/G] NM_021982 SEC24A EXON Missense_V834I exm2086940 5 134056733 [A/G] NM_021982 SEC24A EXON Missense_S1006G exm478540 5 134056770 [T/C] NM_021982 SEC24A EXON Missense_P1018L exm478541 5 134059261 [A/G] NM_021982 SEC24A EXON Missense_D1023G exm478564 5 134074481 [T/G] NM_001745 CAMLG EXON Synonymous_A57A exm478567 5 134076812 [A/G] NM_001745 CAMLG EXON Missense_V78I exm478569 5 134076842 [G/C] NM_001745 CAMLG EXON Missense_G88R exm478573 5 134076922 [C/G] NM_001745 CAMLG EXON Missense_L114F exm478576 5 134076974 [T/C] NM_001745 CAMLG EXON Missense_R132W exm2086954 5 134077112 [A/G] NM_001745 CAMLG EXON Missense_D178N exm478698 5 134190666 [A/G] NM_152409,NM_001135586 C5orf24,C5orf24 EXON Missense_M26V,Missense_M26V exm2274091 5 134223478 [A/G] NM_024715 TXNDC15 EXON Missense_H66R exm2256938 5 134223521 [A/G] NM_024715 TXNDC15 EXON Synonymous_A80A exm478738 5 134223657 [A/G] NM_024715 TXNDC15 EXON Missense_V126I exm2087041 5 134223664 [A/G] NM_024715 TXNDC15 EXON Missense_E128G exm2087042 5 134223691 [G/C] NM_024715 TXNDC15 EXON Missense_G137A exm2274092 5 134223804 [A/G] NM_024715 TXNDC15 EXON Missense_V175M exm478744 5 134229209 [A/G] NM_024715 TXNDC15 EXON Missense_G207S exm478748 5 134229246 [A/G] NM_024715 TXNDC15 EXON Nonsense_W219X exm478776 5 134303694 [T/C] NM_178019 CATSPER3 EXON Missense_R5C exm478786 5 134305646 [A/G] NM_178019 CATSPER3 EXON Missense_C39Y exm478788 5 134305715 [T/C] NM_178019 CATSPER3 EXON Missense_S62L exm478790 5 134305723 [T/C] NM_178019 CATSPER3 EXON Missense_F65L exm478800 5 134332074 [A/G] NM_178019 CATSPER3 EXON Missense_I122V exm478801 5 134332080 [A/G] NM_178019 CATSPER3 EXON Missense_V124I exm478806 5 134332143 [A/G] NM_178019 CATSPER3 EXON Missense_A145T exm478811 5 134343662 [A/G] NM_178019 CATSPER3 EXON Missense_V170M exm478817 5 134343766 [T/G] NM_178019 CATSPER3 EXON Missense_N204K exm478818 5 134343771 [A/C] NM_178019 CATSPER3 EXON Missense_D206A exm478824 5 134344571 [A/G] NM_178019 CATSPER3 EXON Missense_R239Q exm478825 5 134344573 [A/G] NM_178019 CATSPER3 EXON Missense_E240K exm478831 5 134344645 [A/G] NM_178019 CATSPER3 EXON Missense_V264M exm478832 5 134345062 [A/G] NM_178019 CATSPER3 EXON Missense_D273G exm478837 5 134345125 [A/G] NM_178019 CATSPER3 EXON Missense_K294R exm478848 5 134346189 [A/G] NM_178019 CATSPER3 EXON Missense_T355A exm478849 5 134346201 [T/C] NM_178019 CATSPER3 EXON Nonsense_Q359X exm478851 5 134347273 [A/C] NM_178019 CATSPER3 EXON Missense_Q386P exm-rs526896 5 134356705 [T/G] exm478855 5 134364518 [C/G] NM_002653 PITX1 EXON Missense_G299A exm478870 5 134364801 [T/G] NM_002653 PITX1 EXON Missense_M205L exm478874 5 134364839 [A/G] NM_002653 PITX1 EXON Missense_A192V exm478882 5 134367106 [T/G] NM_002653 PITX1 EXON Missense_K88Q exm-rs31198 5 134372685 [T/C] exm-rs254560 5 134443606 [A/G] exm-rs477687 5 134467700 [A/G] exm2270135 5 134489182 [T/G] exm2266121 5 134537897 [A/G] exm478899 5 134670770 [T/C] NM_138609,NM_138610,NM_004893,NM_001040158 H2AFY,H2AFY,H2AFY,H2AFY EXON Missense_V336M,Missense_V339M,Missense_V338M,Missense_V338M exm2087103 5 134782076 [A/G] NM_130848 C5orf20 EXON Synonymous_H241H exm478947 5 134782087 [T/C] NM_130848 C5orf20 EXON Missense_R238G exm478951 5 134782190 [T/C] NM_130848 C5orf20 EXON Nonsense_W203X exm478955 5 134782288 [A/G] NM_130848 C5orf20 EXON Missense_F171L exm478956 5 134782297 [T/C] NM_130848 C5orf20 EXON Missense_E168K exm478959 5 134782342 [C/G] NM_130848 C5orf20 EXON Missense_L153V exm478966 5 134782443 [T/C] NM_130848 C5orf20 EXON Missense_K119R exm478967 5 134782450 [A/T] NM_130848 C5orf20 EXON Nonsense_R117X exm478972 5 134782504 [A/G] NM_130848 C5orf20 EXON Missense_S99P exm478973 5 134782510 [T/C] NM_130848 C5orf20 EXON Missense_N97D exm478976 5 134782576 [T/G] NM_130848 C5orf20 EXON Missense_T75P exm478977 5 134782579 [T/C] NM_130848 C5orf20 EXON Missense_K74E exm478986 5 134782722 [T/A] NM_130848 C5orf20 EXON Missense_L26Q exm478987 5 134782728 [A/T] NM_130848 C5orf20 EXON Missense_Q24L exm2256940 5 134785240 [A/G] NM_001099221 TIFAB EXON Synonymous_H130H exm478997 5 134785284 [T/C] NM_001099221 TIFAB EXON Missense_V116I exm2087110 5 134785326 [T/C] NM_001099221 TIFAB EXON Missense_V102I exm2087111 5 134785341 [A/C] NM_001099221 TIFAB EXON Missense_V97F exm479002 5 134785361 [A/G] NM_001099221 TIFAB EXON Missense_T90M exm479006 5 134785439 [A/G] NM_001099221 TIFAB EXON Missense_L64P exm479008 5 134785463 [T/C] NM_001099221 TIFAB EXON Missense_R56H exm479013 5 134785512 [A/G] NM_001099221 TIFAB EXON Missense_R40W exm479019 5 134785605 [A/G] NM_001099221 TIFAB EXON Nonsense_R9X exm479050 5 134871280 [T/C] NM_006161 NEUROG1 EXON Missense_R34K exm479051 5 134871301 [A/G] NM_006161 NEUROG1 EXON Missense_T27I exm479053 5 134871338 [A/C] NM_006161 NEUROG1 EXON Missense_A15S exm2261833 5 134872704 [T/C] exm479061 5 134910265 [T/C] NM_004887 CXCL14 EXON Missense_R106H exm479066 5 134910364 [T/C] NM_004887 CXCL14 EXON Missense_K73R exm2270136 5 135035711 [T/C] exm2275820 5 135170563 [T/C] NM_145282 SLC25A48 EXON Synonymous_F9F exm479080 5 135178114 [A/G] NM_145282 SLC25A48 EXON Missense_S19N exm479090 5 135186141 [A/G] NM_145282 SLC25A48 EXON Missense_G40R exm479103 5 135188394 [T/C] NM_145282 SLC25A48 EXON Missense_T102M exm479106 5 135188468 [A/G] NM_145282 SLC25A48 EXON Missense_I127V exm479108 5 135188510 [A/G] NM_145282 SLC25A48 EXON Missense_G141R exm479137 5 135223762 [T/C] NM_145282 SLC25A48 EXON Missense_L155F exm479138 5 135223769 [T/G] NM_145282 SLC25A48 EXON Missense_M157R exm479150 5 135228153 [A/G] NM_000590 IL9 EXON Missense_A121V exm479151 5 135228165 [A/G] NM_000590 IL9 EXON Missense_T117M exm2087151 5 135229738 [T/C] NM_000590 IL9 EXON Missense_V96I exm2087152 5 135229769 [G/C] NM_000590 IL9 EXON Nonsense_Y85X exm479164 5 135231243 [T/C] NM_000590 IL9 Silent exm479176 5 135272418 [T/G] NM_012159 FBXL21 EXON Missense_L45F exm479178 5 135272474 [G/C] NM_012159 FBXL21 EXON Missense_C64S exm479180 5 135272498 [A/G] NM_012159 FBXL21 EXON Nonsense_W72X exm479181 5 135272511 [A/T] NM_012159 FBXL21 EXON Missense_F76L exm479182 5 135272512 [T/C] NM_012159 FBXL21 EXON Missense_H77Y exm479183 5 135272554 [T/C] NM_012159 FBXL21 EXON Nonsense_Q91X exm479187 5 135273126 [T/G] NM_012159 FBXL21 EXON Missense_A127S exm479192 5 135273232 [T/C] NM_012159 FBXL21 EXON Missense_S162L exm479202 5 135276314 [T/C] NM_012159 FBXL21 EXON Missense_P209L exm479203 5 135276319 [T/A] NM_012159 FBXL21 EXON Missense_M211L exm479206 5 135276738 [A/G] NM_012159 FBXL21 EXON Missense_R228H exm479211 5 135276883 [A/T] NM_012159 FBXL21 EXON Missense_H276Q exm479218 5 135277049 [T/C] NM_012159 FBXL21 EXON Missense_R332W exm479220 5 135277062 [A/G] NM_012159 FBXL21 EXON Missense_N336S exm2241688 5 135277071 [T/G] NM_012159 FBXL21 EXON Missense_R339L exm479224 5 135277212 [T/A] NM_012159 FBXL21 EXON Missense_V386E exm479226 5 135277240 [C/G] NM_012159 FBXL21 EXON Missense_Q395H exm479230 5 135277314 [A/G] NM_012159 FBXL21 EXON Missense_K420R exm479237 5 135283122 [T/G] NM_002302 LECT2 EXON Missense_E118D exm479240 5 135286927 [A/G] NM_002302 LECT2 EXON Nonsense_R92X exm479246 5 135286996 [G/C] NM_002302 LECT2 EXON Missense_P69A exm479248 5 135287013 [T/C] NM_002302 LECT2 EXON Missense_G63E exm479249 5 135287029 [T/C] NM_002302 LECT2 EXON Missense_I58V exm479255 5 135288632 [A/G] NM_002302 LECT2 EXON Missense_I24T exm479259 5 135290477 [T/C] NM_002302 LECT2 EXON Missense_A16T exm479260 5 135290478 [A/G] NM_002302 LECT2 EXON Synonymous_T15T exm479268 5 135382047 [A/G] NM_000358 TGFBI EXON Missense_E108K exm479281 5 135382574 [T/C] NM_000358 TGFBI EXON Missense_I165T exm479285 5 135382678 [T/A] NM_000358 TGFBI EXON Missense_I200F exm479295 5 135385161 [T/C] NM_000358 TGFBI EXON Missense_L269F exm479297 5 135385173 [A/G] NM_000358 TGFBI EXON Missense_G273S exm479303 5 135385251 [A/G] NM_000358 TGFBI EXON Missense_D299N exm479305 5 135388634 [A/G] NM_000358 TGFBI EXON Missense_A318T exm479306 5 135388650 [T/C] NM_000358 TGFBI EXON Missense_A323V exm479309 5 135388682 [A/G] NM_000358 TGFBI EXON Missense_T334A exm479311 5 135388709 [A/G] NM_000358 TGFBI EXON Missense_M343V exm479313 5 135388743 [A/G] NM_000358 TGFBI EXON Missense_N354S exm2256943 5 135388765 [T/C] NM_000358 TGFBI EXON Synonymous_N361N exm479324 5 135390446 [T/C] NM_000358 TGFBI EXON Missense_R436W exm2087210 5 135390452 [T/C] NM_000358 TGFBI EXON Missense_H438Y exm479330 5 135390525 [A/C] NM_000358 TGFBI EXON Missense_K462T exm2087215 5 135391444 [C/G] NM_000358 TGFBI EXON Missense_R496G exm2087216 5 135391459 [A/C] NM_000358 TGFBI EXON Missense_P501T exm479344 5 135391462 [A/G] NM_000358 TGFBI EXON Missense_M502V exm479345 5 135391471 [A/G] NM_000358 TGFBI EXON Missense_V505I exm479348 5 135391498 [T/C] NM_000358 TGFBI EXON Missense_R514C exm479349 5 135391499 [A/G] NM_000358 TGFBI EXON Missense_R514H exm479355 5 135392451 [A/G] NM_000358 TGFBI EXON Missense_A549T exm479357 5 135392482 [T/G] NM_000358 TGFBI EXON Missense_L559W exm479359 5 135394841 [A/G] NM_000358 TGFBI EXON Missense_G581R exm479362 5 135394903 [A/G] NM_000358 TGFBI EXON Synonymous_L601L exm479366 5 135396589 [A/G] NM_000358 TGFBI EXON Missense_V624M exm479367 5 135396605 [T/C] NM_000358 TGFBI EXON Missense_T629I exm479371 5 135397231 [T/C] NM_000358 TGFBI EXON Missense_A650V exm479376 5 135398363 [G/C] NM_000358 TGFBI EXON Missense_R666S exm479404 5 135498991 [G/C] NM_005903,NM_001001419,NM_001001420 SMAD5,SMAD5,SMAD5 EXON Missense_P229R,Missense_P229R,Missense_P229R exm479406 5 135499047 [T/A] NM_005903,NM_001001419,NM_001001420 SMAD5,SMAD5,SMAD5 EXON Missense_I248F,Missense_I248F,Missense_I248F exm479429 5 135549206 [T/C] NM_020389,NM_001167577,NM_001167576 TRPC7,TRPC7,TRPC7 EXON Missense_D836N,Missense_D775N,Missense_D720N exm479435 5 135561026 [A/G] NM_020389,NM_001167577,NM_001167576 TRPC7,TRPC7,TRPC7 EXON Missense_A760V,Missense_A699V,Missense_A644V exm479439 5 135561815 [T/C] NM_020389,NM_001167577,NM_001167576 TRPC7,TRPC7,TRPC7 EXON Missense_M723I,Missense_M662I,Missense_M607I exm479461 5 135587402 [T/C] NM_020389,NM_001167577,NM_001167576 TRPC7,TRPC7,TRPC7 EXON Missense_Q505R,Missense_Q444R,Missense_Q389R exm479467 5 135601967 [A/G] NM_020389,NM_001167577,NM_001167576 TRPC7,TRPC7,TRPC7 EXON Missense_F429S,Missense_F368S,Missense_F313S exm479473 5 135610475 [A/T] NM_020389,NM_001167577,NM_001167576 TRPC7,TRPC7,TRPC7 EXON Missense_E338D,Missense_E277D,Silent exm479491 5 135692645 [T/C] NM_020389,NM_001167577,NM_001167576 TRPC7,TRPC7,TRPC7 EXON Missense_Q144R,Missense_Q144R,Missense_Q144R exm479504 5 135693038 [C/G] NM_020389,NM_001167577,NM_001167576 TRPC7,TRPC7,TRPC7 EXON Missense_R13P,Missense_R13P,Missense_R13P exm2266010 5 136004552 [A/G] exm2261836 5 136294407 [A/G] exm2256945 5 136314511 [T/C] NM_004598 SPOCK1 EXON Synonymous_G384G exm479514 5 136314511 [T/C] NM_004598 SPOCK1 EXON Synonymous_G384G exm479527 5 136324179 [A/G] NM_004598 SPOCK1 EXON Missense_S287L exm479531 5 136324207 [T/C] NM_004598 SPOCK1 EXON Missense_E278K exm2274093 5 136328269 [A/G] NM_004598 SPOCK1 EXON Missense_R204W exm479546 5 136328283 [A/G] NM_004598 SPOCK1 EXON Missense_T199I exm479549 5 136403476 [T/C] NM_004598 SPOCK1 EXON Missense_A173T exm479551 5 136403506 [A/G] NM_004598 SPOCK1 EXON Missense_F163L exm479563 5 136476288 [T/G] NM_004598 SPOCK1 EXON Missense_R110S exm479564 5 136476303 [T/C] NM_004598 SPOCK1 EXON Missense_A105T exm479567 5 136476339 [A/G] NM_004598 SPOCK1 EXON Missense_P93S exm2264133 5 136608159 [A/C] NM_004598 SPOCK1 Silent exm2270137 5 136816816 [T/C] NM_004598 SPOCK1 Silent exm479575 5 136834138 [T/C] NM_004598 SPOCK1 EXON Missense_N37S exm2256948 5 136961458 [T/C] NM_001257194,NM_001257195,NM_017415 KLHL3,KLHL3,KLHL3 EXON Synonymous_T541T,Synonymous_T491T,Synonymous_T573T exm479596 5 136964098 [A/G] NM_001257194,NM_001257195,NM_017415 KLHL3,KLHL3,KLHL3 EXON Synonymous_Y461Y,Synonymous_Y411Y,Synonymous_Y493Y exm479615 5 136974818 [T/C] NM_001257194,NM_001257195,NM_017415 KLHL3,KLHL3,KLHL3 EXON Missense_H316R,Missense_H266R,Missense_H348R exm479642 5 136997619 [A/C] NM_001257194,NM_001257195,NM_017415 KLHL3,KLHL3,KLHL3 EXON Missense_R214S,Missense_R164S,Missense_R246S exm479657 5 137045507 [T/C] NM_001257194,NM_017415 KLHL3,KLHL3 EXON Missense_D26G,Missense_D58G exm479659 5 137056214 [A/G] NM_001257194,NM_017415 KLHL3,KLHL3 EXON Silent,Missense_T25M exm479673 5 137088945 [T/C] NM_006805 HNRNPA0 EXON Missense_G271S exm479688 5 137089197 [T/C] NM_006805 HNRNPA0 EXON Missense_G187S exm479710 5 137206389 [T/C] NM_001135940,NM_006790 MYOT,MYOT EXON Silent,Missense_C17R exm479715 5 137206489 [A/G] NM_001135940,NM_006790 MYOT,MYOT EXON Silent,Missense_Q50R exm479719 5 137206560 [A/C] NM_001135940,NM_006790 MYOT,MYOT EXON Silent,Missense_K74Q exm479721 5 137206663 [A/C] NM_001135940,NM_006790 MYOT,MYOT EXON Silent,Missense_N108T exm479724 5 137206683 [A/G] NM_001135940,NM_006790 MYOT,MYOT EXON Silent,Missense_A115T exm479727 5 137211606 [G/C] NM_001135940,NM_006790 MYOT,MYOT EXON Silent,Missense_E149Q exm479730 5 137213210 [A/G] NM_001135940,NM_006790 MYOT,MYOT EXON Silent,Missense_R178H exm479732 5 137213294 [A/G] NM_001135940,NM_006790 MYOT,MYOT EXON Missense_G22D,Missense_G206D exm479756 5 137222648 [G/C] NM_001135940,NM_006790 MYOT,MYOT EXON Missense_A245G,Missense_A429G exm2087413 5 137222978 [A/T] NM_001135940,NM_006790 MYOT,MYOT EXON Missense_N283K,Missense_N467K exm479762 5 137222986 [A/G] NM_001135940,NM_006790 MYOT,MYOT EXON Missense_G286D,Missense_G470D exm479780 5 137226266 [A/G] NM_014386,NM_001258448,NM_001258449 PKD2L2,PKD2L2,PKD2L2 EXON Missense_C43Y,Missense_C43Y,Missense_C43Y exm479782 5 137228219 [T/G] NM_014386,NM_001258448,NM_001258449 PKD2L2,PKD2L2,PKD2L2 EXON Missense_S62A,Missense_S62A,Missense_S62A exm479790 5 137230191 [C/G] NM_014386,NM_001258448,NM_001258449 PKD2L2,PKD2L2,PKD2L2 EXON Missense_N139K,Missense_N139K,Missense_N139K exm479813 5 137244517 [A/G] NM_014386,NM_001258448,NM_001258449 PKD2L2,PKD2L2,PKD2L2 EXON Missense_V404I,Missense_V382I,Silent exm479815 5 137244604 [A/G] NM_014386,NM_001258448,NM_001258449 PKD2L2,PKD2L2,PKD2L2 EXON Missense_V433I,Missense_V411I,Silent exm479819 5 137257338 [T/C] NM_014386,NM_001258448,NM_001258449 PKD2L2,PKD2L2,PKD2L2 EXON Nonsense_R448X,Nonsense_R426X,Silent exm479822 5 137257384 [A/G] NM_014386,NM_001258448,NM_001258449 PKD2L2,PKD2L2,PKD2L2 EXON Missense_N463S,Missense_N441S,Silent exm479823 5 137257387 [T/C] NM_014386,NM_001258448,NM_001258449 PKD2L2,PKD2L2,PKD2L2 EXON Missense_P464L,Missense_P442L,Silent exm479828 5 137259179 [T/C] NM_014386,NM_001258448,NM_001258449 PKD2L2,PKD2L2,PKD2L2 EXON Missense_L507P,Missense_L485P,Missense_L406P exm479831 5 137260747 [A/G] NM_014386,NM_001258448,NM_001258449 PKD2L2,PKD2L2,PKD2L2 EXON Missense_E524K,Missense_E502K,Missense_E423K exm479832 5 137260793 [T/C] NM_014386,NM_001258448,NM_001258449 PKD2L2,PKD2L2,PKD2L2 EXON Missense_T539I,Missense_T517I,Missense_T438I exm479835 5 137261578 [A/G] NM_014386,NM_001258448,NM_001258449 PKD2L2,PKD2L2,PKD2L2 EXON Missense_D544G,Missense_D522G,Missense_D443G exm479841 5 137271518 [T/G] NM_014386,NM_001258448,NM_001258449 PKD2L2,PKD2L2,PKD2L2 EXON Missense_W568C,Missense_W546C,Missense_W467C exm479846 5 137271592 [T/C] NM_014386,NM_001258448,NM_001258449 PKD2L2,PKD2L2,PKD2L2 EXON Missense_F593S,Missense_F571S,Missense_F492S exm479849 5 137275829 [A/G] NM_014386,NM_001258448,NM_001258449,NM_016603,NM_001101800,NM_001101801 PKD2L2,PKD2L2,PKD2L2,FAM13B,FAM13B,FAM13B EXON Missense_R612Q,Silent,Silent,Silent,Silent,Silent exm479856 5 137275968 [G/C] NM_014386,NM_001258448,NM_001258449,NM_016603,NM_001101800,NM_001101801 PKD2L2,PKD2L2,PKD2L2,FAM13B,FAM13B,FAM13B EXON Silent,Silent,Silent,Missense_K898N,Missense_K870N,Missense_K774N exm479860 5 137277669 [T/C] NM_016603,NM_001101800,NM_001101801 FAM13B,FAM13B,FAM13B EXON Missense_R863Q,Missense_R835Q,Missense_R739Q exm479867 5 137278591 [T/C] NM_016603,NM_001101800,NM_001101801 FAM13B,FAM13B,FAM13B EXON Missense_R832Q,Missense_R804Q,Missense_R708Q exm479870 5 137278682 [T/C] NM_016603,NM_001101800,NM_001101801 FAM13B,FAM13B,FAM13B EXON Missense_M802V,Missense_M774V,Missense_M678V exm479889 5 137284675 [T/C] NM_016603,NM_001101800,NM_001101801 FAM13B,FAM13B,FAM13B EXON Missense_R688H,Missense_R688H,Missense_R592H exm479922 5 137295355 [T/C] NM_016603,NM_001101800,NM_001101801 FAM13B,FAM13B,FAM13B EXON Missense_S464N,Missense_S464N,Missense_S346N exm479924 5 137295403 [A/G] NM_016603,NM_001101800,NM_001101801 FAM13B,FAM13B,FAM13B EXON Missense_V448A,Missense_V448A,Missense_V330A exm479925 5 137295445 [T/C] NM_016603,NM_001101800,NM_001101801 FAM13B,FAM13B,FAM13B EXON Missense_S434N,Missense_S434N,Missense_S316N exm479932 5 137320974 [T/C] NM_016603,NM_001101800,NM_001101801 FAM13B,FAM13B,FAM13B EXON Missense_C384Y,Missense_C384Y,Missense_C266Y exm479957 5 137347526 [A/G] NM_016603,NM_001101800,NM_001101801 FAM13B,FAM13B,FAM13B EXON Missense_V160A,Missense_V160A,Missense_V42A exm479962 5 137354051 [T/C] NM_016603,NM_001101800,NM_001101801 FAM13B,FAM13B,FAM13B EXON Missense_E104K,Missense_E104K,Silent exm479969 5 137354665 [T/C] NM_016603,NM_001101800,NM_001101801 FAM13B,FAM13B,FAM13B EXON Missense_V46M,Missense_V46M,Silent exm479980 5 137419788 [G/C] NM_058244 WNT8A EXON Missense_L4V exm479981 5 137419812 [A/G] NM_058244 WNT8A EXON Missense_G12S exm480001 5 137426439 [A/G] NM_058244 WNT8A EXON Missense_A245T exm480004 5 137426467 [T/A] NM_058244 WNT8A EXON Missense_E254V exm480008 5 137426569 [A/G] NM_058244 WNT8A EXON Missense_R288H exm480009 5 137426623 [T/C] NM_058244 WNT8A EXON Missense_T306I exm480010 5 137426668 [T/C] NM_058244 WNT8A EXON Missense_T321M exm480014 5 137426727 [A/G] NM_058244 WNT8A EXON Missense_G341S exm480016 5 137426738 [T/G] NM_058244 WNT8A EXON Missense_Q344H exm2266011 5 137441767 [A/G] exm480022 5 137451371 [A/T] NM_003551 NME5 EXON Missense_X213L exm480023 5 137451417 [T/C] NM_003551 NME5 EXON Missense_N198D exm480036 5 137454567 [T/C] NM_003551 NME5 EXON Missense_I165M exm2087520 5 137465027 [T/C] NM_003551 NME5 EXON Missense_H87R exm480047 5 137465138 [T/C] NM_003551 NME5 EXON Missense_S50N exm480053 5 137474417 [A/T] NM_003551 NME5 EXON Missense_I18N exm480058 5 137476419 [T/C] NM_139199 BRD8 EXON Missense_R1197Q exm480061 5 137476468 [T/C] NM_139199 BRD8 EXON Missense_M1181V exm480063 5 137476500 [T/C] NM_139199 BRD8 EXON Missense_R1170Q exm480068 5 137480887 [A/C] NM_139199 BRD8 EXON Missense_G1139V exm480072 5 137481530 [A/C] NM_139199 BRD8 EXON Missense_L1106V exm2270249 5 137486426 [T/C] NM_139199 BRD8 Silent exm480080 5 137486493 [A/C] NM_139199 BRD8 EXON Missense_V1021L exm480085 5 137486640 [T/A] NM_139199 BRD8 EXON Missense_C972S exm480089 5 137486686 [T/G] NM_139199 BRD8 EXON Missense_L956F exm480094 5 137488280 [G/C] NM_139199 BRD8 EXON Missense_S916T exm480099 5 137488340 [A/G] NM_139199 BRD8 EXON Missense_L896P exm2241708 5 137488440 [T/C] NM_139199 BRD8 EXON Missense_E863K exm2241709 5 137500495 [T/C] NM_139199,NM_006696,NM_001164326 BRD8,BRD8,BRD8 EXON Missense_E547K,Missense_E620K,Missense_E550K exm480136 5 137500665 [A/G] NM_139199,NM_006696,NM_001164326 BRD8,BRD8,BRD8 EXON Missense_T490M,Missense_T563M,Missense_T493M exm480140 5 137500698 [A/G] NM_139199,NM_006696,NM_001164326 BRD8,BRD8,BRD8 EXON Missense_T479M,Missense_T552M,Missense_T482M exm480146 5 137501685 [C/G] NM_139199,NM_006696,NM_001164326 BRD8,BRD8,BRD8 EXON Missense_E370D,Missense_E443D,Missense_E373D exm480171 5 137504226 [T/G] NM_139199,NM_006696,NM_001164326 BRD8,BRD8,BRD8 EXON Silent,Missense_P265Q,Missense_P265Q exm480172 5 137504260 [A/G] NM_139199,NM_006696,NM_001164326 BRD8,BRD8,BRD8 EXON Silent,Missense_P254S,Missense_P254S exm480177 5 137504975 [A/G] NM_139199,NM_006696,NM_001164326 BRD8,BRD8,BRD8 EXON Missense_S193F,Missense_S193F,Missense_S193F exm480183 5 137506051 [A/G] NM_139199,NM_006696,NM_001164326 BRD8,BRD8,BRD8 EXON Missense_T163I,Missense_T163I,Missense_T163I exm480190 5 137506599 [T/C] NM_139199,NM_006696,NM_001164326 BRD8,BRD8,BRD8 EXON Missense_R121Q,Missense_R121Q,Missense_R121Q exm480208 5 137515392 [T/C] NM_005733 KIF20A EXON Missense_P8L exm480212 5 137515500 [T/C] NM_005733 KIF20A EXON Missense_S44F exm480214 5 137517132 [A/G] NM_005733 KIF20A EXON Missense_E63K exm480227 5 137518108 [A/T] NM_005733 KIF20A EXON Missense_T158S exm480260 5 137519748 [A/G] NM_005733 KIF20A EXON Missense_T436A exm480275 5 137520244 [A/G] NM_005733 KIF20A EXON Missense_H521R exm480284 5 137520593 [A/G] NM_005733 KIF20A EXON Missense_N594S exm480285 5 137520612 [C/G] NM_005733 KIF20A EXON Missense_M600I exm480286 5 137520864 [G/C] NM_005733 KIF20A EXON Missense_S635T exm480288 5 137521217 [T/C] NM_005733 KIF20A EXON Missense_I648T exm480289 5 137521241 [A/G] NM_005733 KIF20A EXON Missense_Q656R exm480294 5 137521656 [A/G] NM_005733 KIF20A EXON Missense_H711R exm480300 5 137522016 [T/C] NM_005733 KIF20A EXON Missense_L751F exm480307 5 137522840 [A/G] NM_005733 KIF20A EXON Missense_R804Q exm480308 5 137522908 [A/C] NM_005733 KIF20A EXON Missense_K827Q exm480309 5 137522945 [T/C] NM_005733 KIF20A EXON Missense_P839L exm480315 5 137525322 [A/G] NM_004661 CDC23 EXON Synonymous_D541D exm480340 5 137534453 [G/C] NM_004661 CDC23 EXON Missense_P225A exm480345 5 137536897 [C/G] NM_004661 CDC23 EXON Missense_V185L exm2274094 5 137548976 [A/G] NM_004661 CDC23 EXON Missense_P9L exm480367 5 137548988 [A/G] NM_004661 CDC23 EXON Missense_T5I exm480373 5 137588691 [A/G] NM_001496 GFRA3 EXON Missense_T390M exm480377 5 137588727 [T/C] NM_001496 GFRA3 EXON Missense_R378K exm480383 5 137589456 [A/G] NM_001496 GFRA3 EXON Synonymous_L341L exm480393 5 137589849 [T/C] NM_001496 GFRA3 EXON Synonymous_R262R exm480395 5 137593337 [A/G] NM_001496 GFRA3 EXON Missense_P259L exm480405 5 137593620 [A/G] NM_001496 GFRA3 EXON Missense_F165L exm2087676 5 137599964 [T/C] NM_001496 GFRA3 EXON Missense_R122H exm480435 5 137621421 [T/C] NM_001790,NM_022809 CDC25C,CDC25C EXON Missense_R461Q,Missense_R388Q exm480436 5 137621422 [A/G] NM_001790,NM_022809 CDC25C,CDC25C EXON Missense_R461W,Missense_R388W exm480459 5 137625228 [G/C] NM_001790,NM_022809 CDC25C,CDC25C EXON Missense_G297R,Missense_G224R exm2256952 5 137627745 [A/G] NM_001790,NM_022809 CDC25C,CDC25C EXON Synonymous_L226L,Synonymous_L153L exm480473 5 137627784 [A/G] NM_001790,NM_022809 CDC25C,CDC25C EXON Missense_R213C,Missense_R140C exm480474 5 137627806 [T/C] NM_001790,NM_022809 CDC25C,CDC25C Silent,Silent exm480490 5 137665298 [T/C] NM_001790,NM_022809 CDC25C,CDC25C EXON Missense_S78N,Silent exm480491 5 137665303 [T/A] NM_001790,NM_022809 CDC25C,CDC25C EXON Missense_N76K,Silent exm480494 5 137665323 [A/G] NM_001790,NM_022809 CDC25C,CDC25C EXON Missense_R70C,Silent exm480508 5 137680573 [A/C] NM_001135647,NM_016605 FAM53C,FAM53C EXON Missense_N66H,Missense_N66H exm480511 5 137680625 [A/G] NM_001135647,NM_016605 FAM53C,FAM53C EXON Missense_R83Q,Missense_R83Q exm480512 5 137680699 [C/G] NM_001135647,NM_016605 FAM53C,FAM53C EXON Missense_V108L,Missense_V108L exm480530 5 137681122 [T/C] NM_001135647,NM_016605 FAM53C,FAM53C EXON Missense_R249W,Missense_R249W exm480538 5 137681258 [A/G] NM_001135647,NM_016605 FAM53C,FAM53C EXON Missense_R294Q,Missense_R294Q exm2270138 5 137682714 [T/G] NM_001135647,NM_016605 FAM53C,FAM53C EXON Silent,Silent exm-rs757647 5 137707315 [A/G] NM_016604 KDM3B Silent exm480572 5 137717265 [A/G] NM_016604 KDM3B EXON Missense_A256T exm480578 5 137721873 [A/G] NM_016604 KDM3B EXON Missense_D315N exm2087742 5 137721931 [A/G] NM_016604 KDM3B EXON Missense_G334E exm480582 5 137721990 [A/G] NM_016604 KDM3B EXON Missense_I354V exm480596 5 137722231 [T/C] NM_016604 KDM3B EXON Missense_V434A exm480617 5 137727169 [T/G] NM_016604 KDM3B EXON Missense_E616D exm2241725 5 137727597 [A/G] NM_016604 KDM3B EXON Missense_N759S exm480626 5 137727623 [A/G] NM_016604 KDM3B EXON Missense_V768I exm480629 5 137727680 [A/G] NM_016604 KDM3B EXON Missense_N787D exm480632 5 137727864 [A/G] NM_016604 KDM3B EXON Missense_N848S exm480633 5 137727872 [T/C] NM_016604 KDM3B EXON Missense_R851C exm480655 5 137754658 [G/C] NM_016604 KDM3B EXON Missense_P1151R exm480660 5 137754711 [T/C] NM_016604 KDM3B EXON Missense_P1169S exm480666 5 137754798 [T/G] NM_016604 KDM3B EXON Missense_A1198S exm480667 5 137754808 [A/G] NM_016604 KDM3B EXON Missense_S1201N exm2087772 5 137756479 [A/C] NM_016604 KDM3B EXON Missense_S1267Y exm480676 5 137759783 [T/G] NM_016604 KDM3B EXON Missense_S1331I exm480710 5 137765946 [A/C] NM_016604 KDM3B EXON Missense_E1634D exm2256953 5 137766066 [A/G] NM_016604 KDM3B EXON Synonymous_V1674V exm480719 5 137780104 [T/G] NR_073449,NR_073448,NM_001271803,NM_016606 REEP2,REEP2,REEP2,REEP2 EXON Silent,Silent,Missense_W61C,Missense_W61C exm480732 5 137780527 [A/G] NR_073449,NR_073448,NM_001271803,NM_016606 REEP2,REEP2,REEP2,REEP2 EXON Silent,Silent,Missense_A130T,Missense_A130T exm480743 5 137781196 [T/C] NR_073449,NR_073448,NM_001271803,NM_016606 REEP2,REEP2,REEP2,REEP2 EXON Silent,Silent,Missense_P202L,Missense_P200L exm480747 5 137781274 [T/C] NR_073449,NR_073448,NM_001271803,NM_016606 REEP2,REEP2,REEP2,REEP2 EXON Silent,Silent,Missense_A228V,Missense_A226V exm480766 5 137801526 [T/C] NM_001964 EGR1 EXON Missense_S26P exm480774 5 137801592 [T/C] NM_001964 EGR1 EXON Missense_F48L exm480815 5 137803501 [A/G] NM_001964 EGR1 EXON Missense_T455A exm480888 5 137894331 [T/C] NM_004134 HSPA9 EXON Missense_A476T exm480901 5 137902698 [T/G] NM_004134 HSPA9 EXON Missense_K291Q exm480915 5 137903348 [A/G] NM_004134 HSPA9 EXON Missense_S200L exm480928 5 137909481 [T/C] NM_004134 HSPA9 EXON Missense_V67M exm2241730 5 137910932 [A/G] NM_004134 HSPA9 EXON Missense_H26Y exm480962 5 138147906 [A/G] NM_001903 CTNNA1 EXON Missense_G168D exm480963 5 138147939 [T/C] NM_001903 CTNNA1 EXON Missense_A179V exm480975 5 138160285 [T/C] NM_001903 CTNNA1 EXON Missense_P219S exm2087942 5 138160400 [A/G] NM_001903 CTNNA1 EXON Missense_N257S exm480985 5 138163267 [T/C] NM_001903 CTNNA1 EXON Missense_R308C exm480998 5 138209040 [T/C] NM_001903,NM_015564 CTNNA1,LRRTM2 EXON Silent,Missense_A404T exm481005 5 138209300 [A/G] NM_001903,NM_015564 CTNNA1,LRRTM2 EXON Silent,Missense_A317V exm481017 5 138210021 [T/C] NM_001903,NM_015564 CTNNA1,LRRTM2 EXON Silent,Missense_E77K exm481026 5 138221908 [A/G] NM_001903 CTNNA1 EXON Missense_R357H exm481032 5 138223228 [A/G] NM_001903 CTNNA1 EXON Missense_N398S exm481039 5 138240051 [T/C] NM_001903 CTNNA1 EXON Missense_A437V exm481052 5 138260372 [A/G] NM_001903 CTNNA1 EXON Missense_E574K exm481091 5 138282841 [T/C] NM_001037633,NM_022464 SIL1,SIL1 EXON Missense_G451S,Missense_G451S exm481097 5 138282940 [A/G] NM_001037633,NM_022464 SIL1,SIL1 EXON Missense_L418F,Missense_L418F exm481100 5 138282960 [T/C] NM_001037633,NM_022464 SIL1,SIL1 EXON Missense_R411H,Missense_R411H exm481111 5 138283153 [T/C] NM_001037633,NM_022464 SIL1,SIL1 EXON Missense_E347K,Missense_E347K exm481137 5 138362512 [T/G] NM_001037633,NM_022464 SIL1,SIL1 EXON Missense_D208A,Missense_D208A exm481144 5 138378332 [T/C] NM_001037633,NM_022464 SIL1,SIL1 EXON Missense_M144V,Missense_M144V exm481145 5 138378338 [C/G] NM_001037633,NM_022464 SIL1,SIL1 EXON Missense_A142P,Missense_A142P exm481146 5 138378368 [T/G] NM_001037633,NM_022464 SIL1,SIL1 EXON Missense_K132Q,Missense_K132Q exm481147 5 138378394 [A/G] NM_001037633,NM_022464 SIL1,SIL1 EXON Missense_T123I,Missense_T123I exm481151 5 138386670 [G/C] NM_001037633,NM_022464 SIL1,SIL1 EXON Missense_L104V,Missense_L104V exm481152 5 138386705 [T/C] NM_001037633,NM_022464 SIL1,SIL1 EXON Missense_R92Q,Missense_R92Q exm2270139 5 138406078 [T/C] NM_001037633,NM_022464 SIL1,SIL1 Silent,Silent exm481155 5 138456729 [T/C] NM_001037633,NM_022464 SIL1,SIL1 EXON Missense_Q80R,Missense_Q80R exm481159 5 138456779 [A/C] NM_001037633,NM_022464 SIL1,SIL1 EXON Missense_D63E,Missense_D63E exm481163 5 138456816 [A/G] NM_001037633,NM_022464 SIL1,SIL1 EXON Missense_T51I,Missense_T51I exm481195 5 138652744 [A/G] NR_036535,NM_001194954,NM_199189,NM_018834,NM_001194956,NM_001194955 MATR3,MATR3,MATR3,MATR3,MATR3,MATR3 EXON Silent,Missense_A378T,Missense_A378T,Missense_A378T,Missense_A90T,Missense_A378T exm481250 5 138661340 [A/G] NR_036535,NM_001194954,NM_199189,NM_018834,NM_001194956,NM_001194955 MATR3,MATR3,MATR3,MATR3,MATR3,MATR3 EXON Silent,Missense_N787S,Missense_N787S,Missense_N787S,Missense_N499S,Missense_N787S exm481257 5 138665044 [A/G] NR_036535,NM_001194954,NM_199189,NM_018834,NM_001194956,NM_001194955 MATR3,MATR3,MATR3,MATR3,MATR3,MATR3 EXON Silent,Missense_N835S,Missense_N835S,Missense_N835S,Missense_N547S,Missense_N835S exm481266 5 138700253 [A/G] NM_016480,NM_001033112 PAIP2,PAIP2 EXON Missense_I47V,Missense_I47V exm481278 5 138707916 [T/G] NM_005847,NM_152685 SLC23A1,SLC23A1 EXON Missense_Q526K,Missense_Q530K exm481288 5 138713959 [A/C] NM_005847,NM_152685 SLC23A1,SLC23A1 EXON Missense_S421A,Missense_S425A exm2266124 5 138714474 [A/G] NM_005847,NM_152685 SLC23A1,SLC23A1 Silent,Silent exm481308 5 138714971 [A/G] NM_005847,NM_152685 SLC23A1,SLC23A1 EXON Missense_I333T,Missense_I337T exm481319 5 138715502 [T/C] NM_005847,NM_152685 SLC23A1,SLC23A1 EXON Missense_V264M,Missense_V268M exm481320 5 138715520 [T/C] NM_005847,NM_152685 SLC23A1,SLC23A1 EXON Missense_M258V,Missense_M262V exm481323 5 138715761 [T/C] NM_005847,NM_152685 SLC23A1,SLC23A1 EXON Missense_I218V,Missense_I222V exm481333 5 138716242 [A/G] NM_005847,NM_152685 SLC23A1,SLC23A1 EXON Silent,Synonymous_H159H exm481338 5 138716310 [T/C] NM_005847,NM_152685 SLC23A1,SLC23A1 EXON Missense_G137S,Missense_G137S exm481348 5 138717627 [T/C] NM_005847,NM_152685 SLC23A1,SLC23A1 EXON Missense_T88A,Missense_T88A exm481355 5 138718219 [T/C] NM_005847,NM_152685 SLC23A1,SLC23A1 EXON Missense_V38M,Missense_V38M exm481364 5 138718921 [T/C] NM_005847,NM_152685 SLC23A1,SLC23A1 EXON Missense_E8K,Missense_E8K exm481370 5 138723557 [T/G] NM_016459 MZB1 EXON Missense_Y156S exm481373 5 138723741 [T/C] NM_016459 MZB1 EXON Missense_V128M exm481378 5 138724174 [T/C] NM_016459 MZB1 EXON Missense_R93Q exm481379 5 138724188 [A/C] NM_016459 MZB1 EXON Synonymous_T88T exm2256955 5 138724188 [A/C] NM_016459 MZB1 EXON Synonymous_T88T exm481380 5 138724189 [A/G] NM_016459 MZB1 EXON Missense_T88M exm481400 5 138728483 [A/G] NM_001161546 PROB1 EXON Missense_V763A exm481410 5 138729128 [A/G] NM_001161546 PROB1 EXON Missense_P548L exm481412 5 138729254 [A/G] NM_001161546 PROB1 EXON Missense_A506V exm481413 5 138729264 [T/G] NM_001161546 PROB1 EXON Missense_P503T exm481419 5 138729513 [A/G] NM_001161546 PROB1 EXON Missense_R420W exm481425 5 138729991 [G/C] NM_001161546 PROB1 EXON Missense_S260R exm481430 5 138730407 [T/C] NM_001161546 PROB1 EXON Missense_G122S exm481435 5 138732757 [A/G] NM_194296 SPATA24 EXON Missense_V154A exm481439 5 138738337 [T/C] NM_194296 SPATA24 EXON Missense_A55T exm481448 5 138749848 [T/C] NM_152686 DNAJC18 EXON Missense_R356G exm481451 5 138755784 [T/G] NM_152686 DNAJC18 EXON Missense_I304L exm481460 5 138758464 [T/C] NM_152686 DNAJC18 EXON Missense_I238V exm481464 5 138760743 [T/C] NM_152686 DNAJC18 EXON Missense_R207Q exm481467 5 138760752 [T/C] NM_152686 DNAJC18 EXON Missense_R204Q exm481478 5 138761999 [A/G] NM_152686 DNAJC18 EXON Missense_R141C exm481482 5 138764299 [T/C] NM_152686 DNAJC18 EXON Missense_A101T exm481484 5 138764329 [G/C] NM_152686 DNAJC18 EXON Missense_R91G exm481488 5 138773124 [A/G] NM_152686 DNAJC18 EXON Missense_T55I exm481499 5 138784595 [A/C] NM_001077693 ECSCR EXON Missense_F107C exm481501 5 138837135 [G/C] NM_001077693 ECSCR EXON Missense_T71S exm481506 5 138837189 [A/C] NM_001077693 ECSCR EXON Missense_G53V exm481508 5 138837381 [T/C] NM_001077693 ECSCR EXON Missense_G40S exm2275822 5 138855862 [A/C] NM_198282 TMEM173 EXON Missense_R375L exm481516 5 138855863 [A/G] NM_198282 TMEM173 EXON Missense_R375C exm481518 5 138855910 [T/C] NM_198282 TMEM173 EXON Missense_Q359R exm481523 5 138856923 [T/C] NM_198282 TMEM173 EXON Missense_A313T exm481527 5 138856982 [T/C] NM_198282 TMEM173 EXON Missense_R293Q exm481529 5 138857076 [T/C] NM_198282 TMEM173 EXON Missense_A262T exm481533 5 138857856 [T/C] NM_198282 TMEM173 EXON Missense_R253Q exm481534 5 138857857 [A/G] NM_198282 TMEM173 EXON Missense_R253W exm481538 5 138857919 [T/C] NM_198282 TMEM173 EXON Missense_H232R exm481539 5 138857925 [C/G] NM_198282 TMEM173 EXON Missense_G230A exm481540 5 138857955 [T/C] NM_198282 TMEM173 EXON Missense_R220H exm481544 5 138858034 [A/C] NM_198282 TMEM173 EXON Missense_V194L exm481545 5 138858039 [A/C] NM_198282 TMEM173 EXON Missense_G192V exm481546 5 138858043 [A/G] NM_198282 TMEM173 EXON Missense_R191W exm481557 5 138860779 [T/G] NM_198282 TMEM173 EXON Missense_L126I exm481565 5 138861078 [T/C] NM_198282 TMEM173 EXON Missense_R71H exm481569 5 138861229 [T/C] NM_198282 TMEM173 EXON Missense_A21T exm481593 5 139060170 [T/G] NM_016463 CXXC5 EXON Missense_G21V exm481597 5 139060236 [C/G] NM_016463 CXXC5 EXON Missense_A43G exm481608 5 139060577 [A/G] NM_016463 CXXC5 EXON Missense_E157K exm481610 5 139060631 [A/G] NM_016463 CXXC5 EXON Missense_V175M exm481637 5 139189032 [T/G] NM_032289 PSD2 EXON Nonsense_E3X exm481638 5 139189037 [A/C] NM_032289 PSD2 EXON Missense_D4E exm481644 5 139189086 [A/G] NM_032289 PSD2 EXON Missense_G21S exm481645 5 139189111 [A/G] NM_032289 PSD2 EXON Missense_G29E exm481647 5 139189117 [A/G] NM_032289 PSD2 EXON Missense_R31Q exm481651 5 139189174 [A/G] NM_032289 PSD2 EXON Missense_R50Q exm481652 5 139189189 [T/C] NM_032289 PSD2 EXON Missense_A55V exm481654 5 139189229 [C/G] NM_032289 PSD2 EXON Missense_F68L exm481655 5 139189261 [A/G] NM_032289 PSD2 EXON Missense_N79S exm481658 5 139189306 [T/C] NM_032289 PSD2 EXON Missense_A94V exm481662 5 139189345 [G/C] NM_032289 PSD2 EXON Missense_G107A exm481679 5 139193183 [T/C] NM_032289 PSD2 EXON Missense_P221S exm481682 5 139193192 [T/C] NM_032289 PSD2 EXON Missense_R224C exm481684 5 139193210 [T/C] NM_032289 PSD2 EXON Missense_R230C exm481686 5 139193231 [T/C] NM_032289 PSD2 EXON Missense_R237C exm481691 5 139193291 [G/C] NM_032289 PSD2 EXON Missense_G257R exm481695 5 139193334 [A/C] NM_032289 PSD2 EXON Missense_N271T exm481699 5 139193822 [T/C] NM_032289 PSD2 EXON Missense_P297S exm481700 5 139193836 [C/G] NM_032289 PSD2 EXON Missense_D301E exm481708 5 139193906 [A/G] NM_032289 PSD2 EXON Missense_E325K exm481714 5 139197136 [C/G] NM_032289 PSD2 EXON Missense_G363R exm481727 5 139215308 [A/T] NM_032289 PSD2 EXON Missense_T454S exm481739 5 139216541 [A/G] NM_032289 PSD2 EXON Missense_G517S exm481740 5 139216544 [A/G] NM_032289 PSD2 EXON Missense_V518I exm481771 5 139221937 [T/C] NM_032289 PSD2 EXON Missense_R732W exm481775 5 139222049 [G/C] NM_032289 PSD2 EXON Missense_P769R exm481796 5 139228201 [T/G] NM_013982,NM_001184935,NM_013981,NM_004883,NM_013983 NRG2,NRG2,NRG2,NRG2,NRG2 EXON Missense_F626L,Missense_F552L,Missense_F612L,Missense_F618L,Missense_F620L exm481799 5 139231211 [A/G] NM_013982,NM_001184935,NM_013981,NM_004883,NM_013983 NRG2,NRG2,NRG2,NRG2,NRG2 EXON Missense_R592C,Missense_R518C,Missense_R578C,Missense_R584C,Missense_R586C exm481801 5 139231223 [T/C] NM_013982,NM_001184935,NM_013981,NM_004883,NM_013983 NRG2,NRG2,NRG2,NRG2,NRG2 EXON Missense_V588M,Missense_V514M,Missense_V574M,Missense_V580M,Missense_V582M exm481804 5 139231255 [T/C] NM_013982,NM_001184935,NM_013981,NM_004883,NM_013983 NRG2,NRG2,NRG2,NRG2,NRG2 EXON Missense_R577H,Missense_R503H,Missense_R563H,Missense_R569H,Missense_R571H exm481805 5 139231258 [T/C] NM_013982,NM_001184935,NM_013981,NM_004883,NM_013983 NRG2,NRG2,NRG2,NRG2,NRG2 EXON Missense_R576Q,Missense_R502Q,Missense_R562Q,Missense_R568Q,Missense_R570Q exm481809 5 139231286 [A/G] NM_013982,NM_001184935,NM_013981,NM_004883,NM_013983 NRG2,NRG2,NRG2,NRG2,NRG2 EXON Missense_R567W,Missense_R493W,Missense_R553W,Missense_R559W,Missense_R561W exm481822 5 139235298 [T/C] NM_013982,NM_001184935,NM_013981,NM_004883,NM_013983 NRG2,NRG2,NRG2,NRG2,NRG2 EXON Missense_V427M,Missense_V353M,Missense_V413M,Missense_V419M,Missense_V421M exm481829 5 139244718 [T/C] NM_013982,NM_001184935,NM_013981,NM_004883,NM_013983 NRG2,NRG2,NRG2,NRG2,NRG2 EXON Silent,Silent,Missense_A385T,Silent,Missense_A385T exm481835 5 139251346 [T/C] NM_013982,NM_001184935,NM_013981,NM_004883,NM_013983 NRG2,NRG2,NRG2,NRG2,NRG2 EXON Missense_V358I,Silent,Missense_V358I,Missense_V358I,Missense_V358I exm481859 5 139267029 [A/C] NM_013982,NM_001184935,NM_013981,NM_004883,NM_013983 NRG2,NRG2,NRG2,NRG2,NRG2 EXON Missense_K256N,Missense_K256N,Missense_K256N,Missense_K256N,Missense_K256N exm481862 5 139267090 [T/C] NM_013982,NM_001184935,NM_013981,NM_004883,NM_013983 NRG2,NRG2,NRG2,NRG2,NRG2 EXON Missense_R236Q,Missense_R236Q,Missense_R236Q,Missense_R236Q,Missense_R236Q exm2256958 5 139375932 [T/C] NM_013982,NM_001184935,NM_013981,NM_004883,NM_013983 NRG2,NRG2,NRG2,NRG2,NRG2 Silent,Silent,Silent,Silent,Silent exm481924 5 139508064 [A/G] NM_001007189 IGIP EXON Missense_M1I exm481927 5 139508113 [A/G] NM_001007189 IGIP EXON Missense_T18A exm481929 5 139508154 [A/C] NM_001007189 IGIP EXON Missense_K31N exm481931 5 139508194 [T/C] NM_001007189 IGIP EXON Missense_R45W exm481950 5 139661097 [T/G] NM_002622 PFDN1 EXON Missense_E74D exm481966 5 139715482 [T/C] NM_001945 HBEGF EXON Missense_V177I exm481981 5 139725589 [A/G] NM_001945 HBEGF EXON Missense_P43S exm481984 5 139725663 [G/C] NM_001945 HBEGF EXON Missense_S18W exm481986 5 139725904 [T/G] NM_001945 HBEGF EXON Missense_L4M exm481992 5 139739898 [A/G] NM_001258428,NM_001258426,NM_031467,NM_001258427 SLC4A9,SLC4A9,SLC4A9,SLC4A9 EXON Missense_D26G,Missense_D26G,Missense_D26G,Missense_D26G exm481997 5 139740038 [T/A] NM_001258428,NM_001258426,NM_031467,NM_001258427 SLC4A9,SLC4A9,SLC4A9,SLC4A9 EXON Nonsense_R73X,Nonsense_R73X,Nonsense_R73X,Nonsense_R73X exm482009 5 139740841 [A/C] NM_001258428,NM_001258426,NM_031467,NM_001258427 SLC4A9,SLC4A9,SLC4A9,SLC4A9 EXON Missense_Q156K,Missense_Q132K,Missense_Q132K,Missense_Q132K exm482024 5 139742086 [A/G] NM_001258428,NM_001258426,NM_031467,NM_001258427 SLC4A9,SLC4A9,SLC4A9,SLC4A9 EXON Missense_G283E,Missense_G259E,Missense_G259E,Missense_G259E exm482025 5 139742088 [T/C] NM_001258428,NM_001258426,NM_031467,NM_001258427 SLC4A9,SLC4A9,SLC4A9,SLC4A9 EXON Missense_R284W,Missense_R260W,Missense_R260W,Missense_R260W exm482032 5 139742630 [A/G] NM_001258428,NM_001258426,NM_031467,NM_001258427 SLC4A9,SLC4A9,SLC4A9,SLC4A9 EXON Missense_C338Y,Missense_C314Y,Missense_C314Y,Missense_C314Y exm482043 5 139743342 [A/G] NM_001258428,NM_001258426,NM_031467,NM_001258427 SLC4A9,SLC4A9,SLC4A9,SLC4A9 EXON Missense_R394H,Silent,Missense_R370H,Missense_R370H exm482045 5 139743389 [T/C] NM_001258428,NM_001258426,NM_031467,NM_001258427 SLC4A9,SLC4A9,SLC4A9,SLC4A9 EXON Missense_L410F,Missense_L375F,Missense_L386F,Missense_L386F exm2241766 5 139744004 [A/C] NM_001258428,NM_001258426,NM_031467,NM_001258427 SLC4A9,SLC4A9,SLC4A9,SLC4A9 EXON Missense_T506N,Missense_T471N,Missense_T482N,Missense_T482N exm482071 5 139745467 [T/C] NM_001258428,NM_001258426,NM_031467,NM_001258427 SLC4A9,SLC4A9,SLC4A9,SLC4A9 EXON Missense_R611W,Missense_R573W,Missense_R587W,Silent exm482073 5 139745486 [A/G] NM_001258428,NM_001258426,NM_031467,NM_001258427 SLC4A9,SLC4A9,SLC4A9,SLC4A9 EXON Missense_R617H,Missense_R579H,Missense_R593H,Silent exm2088473 5 139745548 [A/T] NM_001258428,NM_001258426,NM_031467,NM_001258427 SLC4A9,SLC4A9,SLC4A9,SLC4A9 EXON Missense_S638T,Missense_S600T,Missense_S614T,Silent exm482078 5 139745739 [T/C] NM_001258428,NM_001258426,NM_031467,NM_001258427 SLC4A9,SLC4A9,SLC4A9,SLC4A9 EXON Missense_R659C,Missense_R621C,Missense_R635C,Missense_R572C exm482081 5 139745800 [G/C] NM_001258428,NM_001258426,NM_031467,NM_001258427 SLC4A9,SLC4A9,SLC4A9,SLC4A9 EXON Missense_A679G,Missense_A641G,Missense_A655G,Missense_A592G exm482088 5 139747064 [A/G] NM_001258428,NM_001258426,NM_031467,NM_001258427 SLC4A9,SLC4A9,SLC4A9,SLC4A9 EXON Nonsense_W715X,Nonsense_W677X,Nonsense_W691X,Nonsense_W628X exm482093 5 139747147 [A/G] NM_001258428,NM_001258426,NM_031467,NM_001258427 SLC4A9,SLC4A9,SLC4A9,SLC4A9 EXON Missense_R743H,Missense_R705H,Missense_R719H,Missense_R656H exm482102 5 139747468 [A/G] NM_001258428,NM_001258426,NM_031467,NM_001258427 SLC4A9,SLC4A9,SLC4A9,SLC4A9 EXON Missense_N804S,Missense_N766S,Missense_N780S,Missense_N717S exm482116 5 139751873 [T/C] NM_001258428,NM_001258426,NM_031467,NM_001258427 SLC4A9,SLC4A9,SLC4A9,SLC4A9 EXON Missense_S930L,Missense_S892L,Missense_S906L,Missense_S843L exm482117 5 139751899 [A/G] NM_001258428,NM_001258426,NM_031467,NM_001258427 SLC4A9,SLC4A9,SLC4A9,SLC4A9 EXON Missense_E939K,Missense_E901K,Missense_E915K,Missense_E852K exm482119 5 139751914 [G/C] NM_001258428,NM_001258426,NM_031467,NM_001258427 SLC4A9,SLC4A9,SLC4A9,SLC4A9 EXON Missense_E944Q,Missense_E906Q,Missense_E920Q,Missense_E857Q exm482121 5 139751954 [A/G] NM_001258428,NM_001258426,NM_031467,NM_001258427 SLC4A9,SLC4A9,SLC4A9,SLC4A9 EXON Missense_H957R,Missense_H919R,Missense_H933R,Missense_H870R exm482136 5 139815780 [G/C] NM_017747,NM_017978,NM_001197030,NM_020690,NM_024668 ANKHD1,ANKHD1,ANKHD1,ANKHD1-EIF4EBP3,ANKHD1 EXON Missense_A133G,Missense_A133G,Missense_A133G,Missense_A133G,Missense_A133G exm482138 5 139815789 [A/G] NM_017747,NM_017978,NM_001197030,NM_020690,NM_024668 ANKHD1,ANKHD1,ANKHD1,ANKHD1-EIF4EBP3,ANKHD1 EXON Missense_R136H,Missense_R136H,Missense_R136H,Missense_R136H,Missense_R136H exm482143 5 139818160 [A/G] NM_017747,NM_017978,NM_001197030,NM_020690,NM_024668 ANKHD1,ANKHD1,ANKHD1,ANKHD1-EIF4EBP3,ANKHD1 EXON Missense_R192Q,Missense_R181Q,Missense_R192Q,Missense_R192Q,Missense_R192Q exm482164 5 139828797 [T/C] NM_017747,NM_017978,NM_001197030,NM_020690,NM_024668 ANKHD1,ANKHD1,ANKHD1,ANKHD1-EIF4EBP3,ANKHD1 EXON Synonymous_G383G,Synonymous_G372G,Synonymous_G383G,Synonymous_G383G,Synonymous_G383G exm482165 5 139828814 [A/G] NM_017747,NM_017978,NM_001197030,NM_020690,NM_024668 ANKHD1,ANKHD1,ANKHD1,ANKHD1-EIF4EBP3,ANKHD1 EXON Missense_R389H,Missense_R378H,Missense_R389H,Missense_R389H,Missense_R389H exm482181 5 139844253 [T/C] NM_017747,NM_017978,NM_001197030,NM_020690,NM_024668 ANKHD1,ANKHD1,ANKHD1,ANKHD1-EIF4EBP3,ANKHD1 EXON Synonymous_G558G,Synonymous_G547G,Silent,Synonymous_G558G,Synonymous_G558G exm482195 5 139866550 [A/G] NM_017747,NM_020690 ANKHD1,ANKHD1-EIF4EBP3 EXON Missense_R717H,Missense_R717H exm482208 5 139876488 [C/G] NM_017747,NM_020690 ANKHD1,ANKHD1-EIF4EBP3 EXON Missense_G877R,Missense_G877R exm482210 5 139876539 [T/G] NM_017747,NM_020690 ANKHD1,ANKHD1-EIF4EBP3 EXON Missense_S894A,Missense_S894A exm482214 5 139876612 [T/C] NM_017747,NM_020690 ANKHD1,ANKHD1-EIF4EBP3 EXON Missense_S918L,Missense_S918L exm482216 5 139876662 [T/G] NM_017747,NM_020690 ANKHD1,ANKHD1-EIF4EBP3 EXON Missense_C935G,Missense_C935G exm2088531 5 139884478 [G/C] NM_017747,NM_020690 ANKHD1,ANKHD1-EIF4EBP3 EXON Missense_C1026S,Missense_C1026S exm2256959 5 139884778 [T/C] NM_017747,NM_020690 ANKHD1,ANKHD1-EIF4EBP3 EXON Synonymous_L1074L,Synonymous_L1074L exm482251 5 139905785 [T/C] NM_017747,NM_020690 ANKHD1,ANKHD1-EIF4EBP3 EXON Missense_M1566T,Missense_M1566T exm482253 5 139905844 [A/G] NM_017747,NM_020690 ANKHD1,ANKHD1-EIF4EBP3 EXON Missense_G1586S,Missense_G1586S exm482268 5 139907810 [A/G] NM_017747,NM_020690 ANKHD1,ANKHD1-EIF4EBP3 EXON Missense_N1760S,Missense_N1760S exm482295 5 139908704 [A/C] NM_017747,NM_020690 ANKHD1,ANKHD1-EIF4EBP3 EXON Missense_T2058N,Missense_T2058N exm482303 5 139908926 [A/G] NM_017747,NM_020690 ANKHD1,ANKHD1-EIF4EBP3 EXON Missense_R2132Q,Missense_R2132Q exm482304 5 139908979 [A/G] NM_017747,NM_020690 ANKHD1,ANKHD1-EIF4EBP3 EXON Missense_A2150T,Missense_A2150T exm482307 5 139909036 [T/C] NM_017747,NM_020690 ANKHD1,ANKHD1-EIF4EBP3 EXON Missense_P2169S,Missense_P2169S exm482311 5 139909066 [T/C] NM_017747,NM_020690 ANKHD1,ANKHD1-EIF4EBP3 EXON Missense_L2179F,Missense_L2179F exm482313 5 139909138 [A/C] NM_017747,NM_020690 ANKHD1,ANKHD1-EIF4EBP3 EXON Missense_T2203P,Missense_T2203P exm482332 5 139915043 [A/G] NM_017747,NM_020690 ANKHD1,ANKHD1-EIF4EBP3 EXON Missense_Q2316R,Missense_Q2316R exm482340 5 139917102 [C/G] NM_017747,NM_020690 ANKHD1,ANKHD1-EIF4EBP3 EXON Missense_P2386A,Missense_P2386A exm482350 5 139917800 [A/G] NM_017747,NM_020690 ANKHD1,ANKHD1-EIF4EBP3 EXON Missense_N2453S,Missense_N2453S exm482354 5 139918600 [C/G] NM_017747,NM_020690 ANKHD1,ANKHD1-EIF4EBP3 EXON Missense_P2501A,Missense_P2501A exm482359 5 139921770 [T/C] NM_020690 ANKHD1-EIF4EBP3 EXON Missense_P2528L exm482361 5 139921821 [T/C] NM_020690 ANKHD1-EIF4EBP3 EXON Missense_P2545L exm482363 5 139921839 [A/G] NM_020690 ANKHD1-EIF4EBP3 EXON Missense_R2551Q exm482388 5 139930307 [A/G] NM_001253764,NM_001035235,NR_045586,NR_045587 SRA1,SRA1,SRA1,SRA1 EXON Missense_P202L,Missense_P230L,Silent,Silent exm482391 5 139930380 [T/C] NM_001253764,NM_001035235,NR_045586,NR_045587 SRA1,SRA1,SRA1,SRA1 EXON Missense_R178G,Missense_R206G,Silent,Silent exm482398 5 139930696 [T/C] NM_001253764,NM_001035235,NR_045586,NR_045587 SRA1,SRA1,SRA1,SRA1 EXON Missense_G122E,Missense_G150E,Silent,Silent exm482399 5 139930704 [A/C] NM_001253764,NM_001035235,NR_045586,NR_045587 SRA1,SRA1,SRA1,SRA1 EXON Missense_Q119H,Missense_Q147H,Silent,Silent exm482401 5 139930726 [T/C] NM_001253764,NM_001035235,NR_045586,NR_045587 SRA1,SRA1,SRA1,SRA1 EXON Missense_R112H,Missense_R140H,Silent,Silent exm482403 5 139930736 [T/C] NM_001253764,NM_001035235,NR_045586,NR_045587 SRA1,SRA1,SRA1,SRA1 EXON Missense_I109V,Missense_I137V,Silent,Silent exm482409 5 139931607 [A/G] NM_001253764,NM_001035235,NR_045586,NR_045587 SRA1,SRA1,SRA1,SRA1 EXON Silent,Missense_P117L,Silent,Silent exm482415 5 139931613 [A/C] NM_001253764,NM_001035235,NR_045586,NR_045587 SRA1,SRA1,SRA1,SRA1 EXON Silent,Missense_L115R,Silent,Silent exm482419 5 139931617 [T/C] NM_001253764,NM_001035235,NR_045586,NR_045587 SRA1,SRA1,SRA1,SRA1 EXON Silent,Missense_V114M,Silent,Silent exm482420 5 139931618 [A/C] NM_001253764,NM_001035235,NR_045586,NR_045587 SRA1,SRA1,SRA1,SRA1 EXON Silent,Missense_D113E,Silent,Silent exm482421 5 139931619 [T/C] NM_001253764,NM_001035235,NR_045586,NR_045587 SRA1,SRA1,SRA1,SRA1 EXON Silent,Missense_D113G,Silent,Silent exm482422 5 139931620 [T/C] NM_001253764,NM_001035235,NR_045586,NR_045587 SRA1,SRA1,SRA1,SRA1 EXON Silent,Missense_D113N,Silent,Silent exm482424 5 139931622 [T/C] NM_001253764,NM_001035235,NR_045586,NR_045587 SRA1,SRA1,SRA1,SRA1 EXON Silent,Missense_E112G,Silent,Silent exm482425 5 139931623 [A/C] NM_001253764,NM_001035235,NR_045586,NR_045587 SRA1,SRA1,SRA1,SRA1 EXON Silent,Nonsense_E112X,Silent,Silent exm482428 5 139931629 [C/G] NM_001253764,NM_001035235,NR_045586,NR_045587 SRA1,SRA1,SRA1,SRA1 EXON Silent,Missense_V110L,Silent,Silent exm2088587 5 139931633 [G/C] NM_001253764,NM_001035235,NR_045586,NR_045587 SRA1,SRA1,SRA1,SRA1 EXON Silent,Missense_E108D,Silent,Silent exm482431 5 139931634 [T/G] NM_001253764,NM_001035235,NR_045586,NR_045587 SRA1,SRA1,SRA1,SRA1 EXON Silent,Missense_E108A,Silent,Silent exm2088589 5 139931640 [T/C] NM_001253764,NM_001035235,NR_045586,NR_045587 SRA1,SRA1,SRA1,SRA1 EXON Silent,Missense_E106G,Silent,Silent exm482437 5 139931643 [A/C] NM_001253764,NM_001035235,NR_045586,NR_045587 SRA1,SRA1,SRA1,SRA1 EXON Silent,Missense_V105G,Silent,Silent exm482438 5 139931644 [C/G] NM_001253764,NM_001035235,NR_045586,NR_045587 SRA1,SRA1,SRA1,SRA1 EXON Silent,Missense_V105L,Silent,Silent exm482440 5 139931646 [C/G] NM_001253764,NM_001035235,NR_045586,NR_045587 SRA1,SRA1,SRA1,SRA1 EXON Silent,Missense_P104R,Silent,Silent exm482441 5 139931647 [T/G] NM_001253764,NM_001035235,NR_045586,NR_045587 SRA1,SRA1,SRA1,SRA1 EXON Silent,Missense_P104T,Silent,Silent exm482443 5 139931649 [A/C] NM_001253764,NM_001035235,NR_045586,NR_045587 SRA1,SRA1,SRA1,SRA1 EXON Silent,Missense_F103C,Silent,Silent exm482444 5 139931650 [T/A] NM_001253764,NM_001035235,NR_045586,NR_045587 SRA1,SRA1,SRA1,SRA1 EXON Silent,Missense_F103I,Silent,Silent exm482446 5 139931652 [C/G] NM_001253764,NM_001035235,NR_045586,NR_045587 SRA1,SRA1,SRA1,SRA1 EXON Silent,Missense_S102T,Silent,Silent exm482447 5 139931653 [T/G] NM_001253764,NM_001035235,NR_045586,NR_045587 SRA1,SRA1,SRA1,SRA1 EXON Silent,Missense_S102R,Silent,Silent exm482449 5 139931655 [T/G] NM_001253764,NM_001035235,NR_045586,NR_045587 SRA1,SRA1,SRA1,SRA1 EXON Silent,Missense_T101K,Silent,Silent exm482450 5 139931656 [A/T] NM_001253764,NM_001035235,NR_045586,NR_045587 SRA1,SRA1,SRA1,SRA1 EXON Silent,Missense_T101S,Silent,Silent exm482452 5 139931658 [T/G] NM_001253764,NM_001035235,NR_045586,NR_045587 SRA1,SRA1,SRA1,SRA1 EXON Silent,Missense_P100H,Silent,Silent exm482453 5 139931659 [T/G] NM_001253764,NM_001035235,NR_045586,NR_045587 SRA1,SRA1,SRA1,SRA1 EXON Silent,Missense_P100T,Silent,Silent exm482454 5 139931660 [G/C] NM_001253764,NM_001035235,NR_045586,NR_045587 SRA1,SRA1,SRA1,SRA1 EXON Silent,Missense_E99D,Silent,Silent exm482455 5 139931661 [T/G] NM_001253764,NM_001035235,NR_045586,NR_045587 SRA1,SRA1,SRA1,SRA1 EXON Silent,Missense_E99A,Silent,Silent exm482460 5 139931691 [A/G] NM_001253764,NM_001035235,NR_045586,NR_045587 SRA1,SRA1,SRA1,SRA1 EXON Silent,Missense_P89L,Silent,Silent exm482462 5 139931739 [A/G] NM_001253764,NM_001035235,NR_045586,NR_045587 SRA1,SRA1,SRA1,SRA1 EXON Silent,Missense_P73L,Silent,Silent exm482463 5 139931740 [A/G] NM_001253764,NM_001035235,NR_045586,NR_045587 SRA1,SRA1,SRA1,SRA1 EXON Silent,Missense_P73S,Silent,Silent exm482477 5 139936823 [A/C] NM_001253764,NM_001035235,NR_045586,NR_045587 SRA1,SRA1,SRA1,SRA1 EXON Missense_S72I,Missense_Q32H,Silent,Silent exm482478 5 139936825 [C/G] NM_001253764,NM_001035235,NR_045586,NR_045587 SRA1,SRA1,SRA1,SRA1 EXON Synonymous_R71R,Missense_Q32E,Silent,Silent exm482494 5 139938237 [T/C] NM_006051,NM_133174,NM_133173,NM_133172 APBB3,APBB3,APBB3,APBB3 EXON Missense_R472Q,Missense_R463Q,Missense_R465Q,Missense_R470Q exm482500 5 139938288 [A/G] NM_006051,NM_133174,NM_133173,NM_133172 APBB3,APBB3,APBB3,APBB3 EXON Missense_L455P,Missense_L446P,Missense_L448P,Missense_L453P exm482501 5 139938303 [A/G] NM_006051,NM_133174,NM_133173,NM_133172 APBB3,APBB3,APBB3,APBB3 EXON Missense_S450F,Missense_S441F,Missense_S443F,Missense_S448F exm482504 5 139938337 [A/G] NM_006051,NM_133174,NM_133173,NM_133172 APBB3,APBB3,APBB3,APBB3 EXON Missense_R439C,Missense_R430C,Missense_R432C,Missense_R437C exm482508 5 139938369 [T/C] NM_006051,NM_133174,NM_133173,NM_133172 APBB3,APBB3,APBB3,APBB3 EXON Missense_R428Q,Missense_R419Q,Missense_R421Q,Missense_R426Q exm482520 5 139940288 [T/C] NM_006051,NM_133174,NM_133173,NM_133172 APBB3,APBB3,APBB3,APBB3 EXON Missense_R330Q,Missense_R321Q,Missense_R323Q,Missense_R328Q exm482524 5 139940337 [T/C] NM_006051,NM_133174,NM_133173,NM_133172 APBB3,APBB3,APBB3,APBB3 EXON Missense_M314V,Missense_M305V,Missense_M307V,Missense_M312V exm482525 5 139940340 [G/C] NM_006051,NM_133174,NM_133173,NM_133172 APBB3,APBB3,APBB3,APBB3 Silent,Silent,Silent,Silent exm482539 5 139941228 [A/G] NM_006051,NM_133174,NM_133173,NM_133172 APBB3,APBB3,APBB3,APBB3 EXON Missense_C238R,Missense_C229R,Missense_C231R,Missense_C236R exm482564 5 139941805 [T/C] NM_006051,NM_133174,NM_133173,NM_133172 APBB3,APBB3,APBB3,APBB3 EXON Missense_N169S,Missense_N169S,Missense_N169S,Missense_N169S exm482565 5 139941943 [C/G] NM_006051,NM_133174,NM_133173,NM_133172 APBB3,APBB3,APBB3,APBB3 EXON Missense_G165R,Missense_G165R,Missense_G165R,Missense_G165R exm2088630 5 139941949 [T/C] NM_006051,NM_133174,NM_133173,NM_133172 APBB3,APBB3,APBB3,APBB3 EXON Missense_A163T,Missense_A163T,Missense_A163T,Missense_A163T exm482566 5 139941975 [T/C] NM_006051,NM_133174,NM_133173,NM_133172 APBB3,APBB3,APBB3,APBB3 EXON Missense_R154H,Missense_R154H,Missense_R154H,Missense_R154H exm482567 5 139941976 [A/G] NM_006051,NM_133174,NM_133173,NM_133172 APBB3,APBB3,APBB3,APBB3 EXON Missense_R154C,Missense_R154C,Missense_R154C,Missense_R154C exm482572 5 139942071 [T/C] NM_006051,NM_133174,NM_133173,NM_133172 APBB3,APBB3,APBB3,APBB3 EXON Missense_R122H,Missense_R122H,Missense_R122H,Missense_R122H exm482576 5 139942255 [T/C] NM_006051,NM_133174,NM_133173,NM_133172 APBB3,APBB3,APBB3,APBB3 EXON Missense_G115E,Missense_G115E,Missense_G115E,Missense_G115E exm2088639 5 139946846 [T/G] NM_080670 SLC35A4 EXON Missense_G31V exm482597 5 139946888 [A/G] NM_080670 SLC35A4 EXON Missense_R45Q exm482603 5 139946988 [T/G] NM_080670 SLC35A4 EXON Missense_Q78H exm482605 5 139947010 [A/G] NM_080670 SLC35A4 EXON Missense_A86T exm482608 5 139947076 [T/C] NM_080670 SLC35A4 EXON Missense_R108C exm482613 5 139947176 [A/G] NM_080670 SLC35A4 EXON Missense_R141H exm482637 5 139947520 [A/G] NM_080670 SLC35A4 EXON Missense_V256M exm482653 5 139947716 [A/G] NM_080670 SLC35A4 EXON Missense_Y321C exm482655 5 139947724 [T/C] NM_080670 SLC35A4 EXON Missense_R324C exm482662 5 140011548 [T/C] NM_000591,NM_001174104,NM_001174105,NM_001040021 CD14,CD14,CD14,CD14 EXON Missense_E341K,Missense_E341K,Missense_E341K,Missense_E341K exm482669 5 140011785 [T/G] NM_000591,NM_001174104,NM_001174105,NM_001040021 CD14,CD14,CD14,CD14 EXON Missense_R262S,Missense_R262S,Missense_R262S,Missense_R262S exm482672 5 140011867 [T/C] NM_000591,NM_001174104,NM_001174105,NM_001040021 CD14,CD14,CD14,CD14 EXON Missense_M234I,Missense_M234I,Missense_M234I,Missense_M234I exm482691 5 140012304 [A/G] NM_000591,NM_001174104,NM_001174105,NM_001040021 CD14,CD14,CD14,CD14 EXON Missense_L89F,Missense_L89F,Missense_L89F,Missense_L89F exm482696 5 140012379 [C/G] NM_000591,NM_001174104,NM_001174105,NM_001040021 CD14,CD14,CD14,CD14 EXON Missense_L64V,Missense_L64V,Missense_L64V,Missense_L64V exm482711 5 140021360 [C/G] NM_018502 TMCO6 EXON Missense_F103L exm482718 5 140021612 [A/C] NM_018502 TMCO6 EXON Missense_L158I exm482719 5 140021637 [T/C] NM_018502 TMCO6 EXON Missense_I166T exm482726 5 140022177 [G/C] NM_018502 TMCO6 EXON Missense_H204D exm482727 5 140022212 [C/G] NM_018502 TMCO6 EXON Missense_L215F exm482732 5 140022529 [T/C] NM_018502 TMCO6 EXON Missense_L237F exm482734 5 140022599 [T/C] NM_018502 TMCO6 EXON Missense_A260V exm482738 5 140023174 [A/G] NM_018502 TMCO6 EXON Missense_G278S exm482741 5 140023238 [C/G] NM_018502 TMCO6 EXON Missense_T299S exm482765 5 140024269 [A/G] NM_018502 TMCO6 EXON Missense_E438K exm482785 5 140025192 [T/C] NM_002488,NM_001185012,NR_033697 NDUFA2,NDUFA2,NDUFA2 EXON Missense_V94I,Silent,Silent exm2256960 5 140026920 [T/C] NM_002488,NM_001185012,NR_033697 NDUFA2,NDUFA2,NDUFA2 EXON Synonymous_E43E,Synonymous_E43E,Silent exm2241776 5 140027074 [C/G] NM_002488,NM_001185012,NR_033697 NDUFA2,NDUFA2,NDUFA2 EXON Missense_G32A,Missense_G32A,Silent exm482796 5 140027129 [C/G] NM_002488,NM_001185012,NR_033697 NDUFA2,NDUFA2,NDUFA2 EXON Missense_L14V,Missense_L14V,Silent exm482814 5 140035428 [T/C] NM_006083 IK EXON Nonsense_R218X exm482820 5 140038340 [A/G] NM_006083 IK EXON Missense_K310R exm482826 5 140038604 [A/G] NM_006083 IK EXON Missense_R344Q exm482828 5 140038609 [T/C] NM_006083 IK EXON Missense_R346C exm482847 5 140044576 [T/C] NM_017706 WDR55 EXON Missense_R27W exm482849 5 140044604 [T/C] NM_017706 WDR55 EXON Missense_V36A exm482850 5 140044645 [T/C] NM_017706 WDR55 EXON Missense_R50C exm482853 5 140047844 [A/G] NM_017706 WDR55 EXON Missense_E73K exm2256961 5 140048209 [T/C] NM_017706 WDR55 EXON Synonymous_N131N exm482863 5 140048267 [T/C] NM_017706 WDR55 EXON Missense_C151R exm482876 5 140048544 [T/C] NM_017706 WDR55 EXON Missense_S210F exm482878 5 140048707 [A/G] NM_017706 WDR55 EXON Missense_Y235C exm482882 5 140048821 [A/C] NM_017706 WDR55 EXON Missense_D273A exm482890 5 140049099 [T/C] NM_017706 WDR55 EXON Missense_R338C exm482894 5 140049180 [A/G] NM_017706 WDR55 EXON Missense_E365K exm2088764 5 140053171 [A/C] NM_194249 DND1 EXON Silent exm2274096 5 140054277 [A/G] NM_002109,NM_001258040,NM_001258041,NM_001258042 HARS,HARS,HARS,HARS EXON Missense_T482M,Missense_T442M,Missense_T462M,Missense_T422M exm482965 5 140054685 [A/G] NM_002109,NM_001258040,NM_001258041,NM_001258042 HARS,HARS,HARS,HARS EXON Nonsense_Q410X,Nonsense_Q370X,Nonsense_Q390X,Nonsense_Q350X exm482969 5 140054717 [A/G] NM_002109,NM_001258040,NM_001258041,NM_001258042 HARS,HARS,HARS,HARS EXON Missense_A399V,Missense_A359V,Missense_A379V,Missense_A339V exm482972 5 140056306 [T/C] NM_002109,NM_001258040,NM_001258041,NM_001258042 HARS,HARS,HARS,HARS EXON Missense_K376R,Missense_K336R,Missense_K356R,Missense_K316R exm483004 5 140057275 [A/G] NM_002109,NM_001258040,NM_001258041,NM_001258042 HARS,HARS,HARS,HARS EXON Missense_R232C,Missense_R192C,Missense_R212C,Missense_R172C exm483007 5 140057509 [T/C] NM_002109,NM_001258040,NM_001258041,NM_001258042 HARS,HARS,HARS,HARS EXON Missense_G205D,Missense_G165D,Missense_G185D,Missense_G145D exm483016 5 140058630 [T/G] NM_002109,NM_001258040,NM_001258041,NM_001258042 HARS,HARS,HARS,HARS EXON Missense_N160T,Missense_N120T,Silent,Silent exm483020 5 140058699 [T/C] NM_002109,NM_001258040,NM_001258041,NM_001258042 HARS,HARS,HARS,HARS EXON Missense_R137Q,Missense_R97Q,Missense_R137Q,Missense_R97Q exm483021 5 140059374 [C/G] NM_002109,NM_001258040,NM_001258041,NM_001258042 HARS,HARS,HARS,HARS EXON Missense_T132S,Missense_T92S,Missense_T132S,Missense_T92S exm483023 5 140059387 [A/G] NM_002109,NM_001258040,NM_001258041,NM_001258042 HARS,HARS,HARS,HARS EXON Missense_R128C,Missense_R88C,Missense_R128C,Missense_R88C exm483031 5 140070465 [T/G] NM_002109,NM_001258040,NM_001258041,NM_001258042 HARS,HARS,HARS,HARS EXON Missense_Q52P,Missense_Q52P,Missense_Q52P,Missense_Q52P exm483033 5 140070517 [T/C] NM_002109,NM_001258040,NM_001258041,NM_001258042 HARS,HARS,HARS,HARS EXON Missense_V35M,Missense_V35M,Missense_V35M,Missense_V35M exm2088798 5 140070850 [T/G] NM_002109,NM_001258040,NM_001258041,NM_001258042 HARS,HARS,HARS,HARS EXON Missense_Q14K,Missense_Q14K,Missense_Q14K,Missense_Q14K exm483037 5 140070876 [T/G] NM_002109,NM_001258040,NM_001258041,NM_001258042 HARS,HARS,HARS,HARS EXON Missense_A5E,Missense_A5E,Missense_A5E,Missense_A5E exm483039 5 140071240 [G/C] NM_002109,NM_001258040,NM_001258041,NM_001258042,NM_012208 HARS,HARS,HARS,HARS,HARS2 EXON Silent,Silent,Silent,Silent,Missense_L3V exm483047 5 140073192 [T/G] NM_012208 HARS2 EXON Nonsense_L42X exm483048 5 140073219 [A/G] NM_012208 HARS2 EXON Missense_E51G exm483075 5 140076157 [C/G] NM_012208 HARS2 EXON Missense_P262A exm483083 5 140076633 [A/C] NM_012208 HARS2 EXON Missense_T311N exm483084 5 140076750 [T/C] NM_012208 HARS2 EXON Missense_I319T exm2088816 5 140076849 [T/C] NM_012208 HARS2 EXON Missense_P352L exm483087 5 140076899 [C/G] NM_012208 HARS2 EXON Missense_G369R exm483091 5 140077210 [G/C] NM_012208 HARS2 EXON Missense_Q418H exm483098 5 140077641 [T/G] NM_012208 HARS2 EXON Missense_R480L exm483102 5 140078090 [T/C] NM_012208 HARS2 EXON Missense_R492W exm483103 5 140078120 [T/C] NM_012208 HARS2 EXON Nonsense_R502X exm2256963 5 140080460 [T/C] NM_144723 ZMAT2 EXON Synonymous_A25A exm2256964 5 140115303 [A/G] exm483144 5 140166194 [A/G] NM_031410,NM_031411,NM_018900 PCDHA1,PCDHA1,PCDHA1 EXON Missense_E107K,Missense_E107K,Missense_E107K exm483155 5 140166332 [T/C] NM_031410,NM_031411,NM_018900 PCDHA1,PCDHA1,PCDHA1 EXON Missense_P153S,Missense_P153S,Missense_P153S exm483156 5 140166347 [A/G] NM_031410,NM_031411,NM_018900 PCDHA1,PCDHA1,PCDHA1 EXON Missense_A158T,Missense_A158T,Missense_A158T exm483157 5 140166348 [A/C] NM_031410,NM_031411,NM_018900 PCDHA1,PCDHA1,PCDHA1 EXON Missense_A158D,Missense_A158D,Missense_A158D exm483159 5 140166396 [T/C] NM_031410,NM_031411,NM_018900 PCDHA1,PCDHA1,PCDHA1 EXON Missense_P174L,Missense_P174L,Missense_P174L exm2256965 5 140166461 [T/C] NM_031410,NM_031411,NM_018900 PCDHA1,PCDHA1,PCDHA1 EXON Synonymous_L196L,Synonymous_L196L,Synonymous_L196L exm483164 5 140166534 [A/C] NM_031410,NM_031411,NM_018900 PCDHA1,PCDHA1,PCDHA1 EXON Missense_P220Q,Missense_P220Q,Missense_P220Q exm483172 5 140166686 [G/C] NM_031410,NM_031411,NM_018900 PCDHA1,PCDHA1,PCDHA1 EXON Missense_E271Q,Missense_E271Q,Missense_E271Q exm483180 5 140166893 [T/G] NM_031410,NM_031411,NM_018900 PCDHA1,PCDHA1,PCDHA1 EXON Missense_V340L,Missense_V340L,Missense_V340L exm483182 5 140166953 [A/G] NM_031410,NM_031411,NM_018900 PCDHA1,PCDHA1,PCDHA1 EXON Missense_R360G,Missense_R360G,Missense_R360G exm2276868 5 140167025 [A/C] NM_031410,NM_031411,NM_018900 PCDHA1,PCDHA1,PCDHA1 EXON Missense_Q384K,Missense_Q384K,Missense_Q384K exm483199 5 140167220 [A/C] NM_031410,NM_031411,NM_018900 PCDHA1,PCDHA1,PCDHA1 EXON Missense_N449H,Missense_N449H,Missense_N449H exm483246 5 140167797 [A/G] NM_031410,NM_031411,NM_018900 PCDHA1,PCDHA1,PCDHA1 EXON Missense_D641G,Silent,Missense_D641G exm483267 5 140168088 [T/C] NM_031410,NM_031411,NM_018900 PCDHA1,PCDHA1,PCDHA1 EXON Missense_T738I,Silent,Missense_T738I exm2241781 5 140168284 [A/C] NM_031410,NM_031411,NM_018900 PCDHA1,PCDHA1,PCDHA1 EXON Missense_F803L,Silent,Silent exm483282 5 140168291 [T/C] NM_031410,NM_031411,NM_018900 PCDHA1,PCDHA1,PCDHA1 EXON Missense_W806R,Silent,Silent exm483305 5 140174962 [A/G] NM_031411,NM_018900,NM_031495,NM_018905 PCDHA1,PCDHA1,PCDHA2,PCDHA2 EXON Silent,Silent,Missense_K138R,Missense_K138R exm483306 5 140174969 [C/G] NM_031411,NM_018900,NM_031495,NM_018905 PCDHA1,PCDHA1,PCDHA2,PCDHA2 EXON Silent,Silent,Missense_I140M,Missense_I140M exm483307 5 140174970 [T/C] NM_031411,NM_018900,NM_031495,NM_018905 PCDHA1,PCDHA1,PCDHA2,PCDHA2 EXON Silent,Silent,Missense_R141W,Missense_R141W exm483319 5 140175156 [A/G] NM_031411,NM_018900,NM_031495,NM_018905 PCDHA1,PCDHA1,PCDHA2,PCDHA2 EXON Silent,Silent,Missense_E203K,Missense_E203K exm483322 5 140175233 [A/G] NM_031411,NM_018900,NM_031495,NM_018905 PCDHA1,PCDHA1,PCDHA2,PCDHA2 EXON Silent,Silent,Missense_I228M,Missense_I228M exm483329 5 140175426 [T/C] NM_031411,NM_018900,NM_031495,NM_018905 PCDHA1,PCDHA1,PCDHA2,PCDHA2 EXON Silent,Silent,Missense_F293L,Missense_F293L exm483335 5 140175529 [A/C] NM_031411,NM_018900,NM_031495,NM_018905 PCDHA1,PCDHA1,PCDHA2,PCDHA2 EXON Silent,Silent,Missense_T327N,Missense_T327N exm483369 5 140176243 [T/C] NM_031411,NM_018900,NM_031495,NM_018905 PCDHA1,PCDHA1,PCDHA2,PCDHA2 EXON Silent,Silent,Missense_L565P,Missense_L565P exm483414 5 140176840 [T/C] NM_031411,NM_018900,NM_031495,NM_018905 PCDHA1,PCDHA1,PCDHA2,PCDHA2 EXON Silent,Silent,Missense_P764L,Missense_P764L exm483415 5 140176842 [A/C] NM_031411,NM_018900,NM_031495,NM_018905 PCDHA1,PCDHA1,PCDHA2,PCDHA2 EXON Silent,Silent,Missense_P765T,Missense_P765T exm483452 5 140181359 [A/G] NM_031411,NM_018900,NM_018905,NM_031497,NM_018906 PCDHA1,PCDHA1,PCDHA2,PCDHA3,PCDHA3 EXON Silent,Silent,Silent,Missense_G193R,Missense_G193R exm483466 5 140181648 [T/C] NM_031411,NM_018900,NM_018905,NM_031497,NM_018906 PCDHA1,PCDHA1,PCDHA2,PCDHA3,PCDHA3 EXON Silent,Silent,Silent,Missense_I289T,Missense_I289T exm483470 5 140181764 [T/C] NM_031411,NM_018900,NM_018905,NM_031497,NM_018906 PCDHA1,PCDHA1,PCDHA2,PCDHA3,PCDHA3 EXON Silent,Silent,Silent,Missense_P328S,Missense_P328S exm483522 5 140182722 [T/C] NM_031411,NM_018900,NM_018905,NM_031497,NM_018906 PCDHA1,PCDHA1,PCDHA2,PCDHA3,PCDHA3 EXON Silent,Silent,Silent,Missense_L647P,Missense_L647P exm2256966 5 140182777 [T/G] NM_031411,NM_018900,NM_018905,NM_031497,NM_018906 PCDHA1,PCDHA1,PCDHA2,PCDHA3,PCDHA3 EXON Silent,Silent,Silent,Synonymous_V665V,Synonymous_V665V exm483541 5 140183058 [A/G] NM_031411,NM_018900,NM_018905,NM_031497,NM_018906 PCDHA1,PCDHA1,PCDHA2,PCDHA3,PCDHA3 EXON Silent,Silent,Silent,Missense_C759Y,Missense_C759Y exm483549 5 140183237 [A/G] NM_031411,NM_018900,NM_018905,NM_031497,NM_018906 PCDHA1,PCDHA1,PCDHA2,PCDHA3,PCDHA3 EXON Silent,Silent,Silent,Missense_T819A,Silent exm483554 5 140186844 [A/G] NM_031411,NM_018900,NM_018905,NM_018906,NM_018907,NM_031500 PCDHA1,PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA4 EXON Silent,Silent,Silent,Silent,Nonsense_W24X,Nonsense_W24X exm483581 5 140187173 [T/C] NM_031411,NM_018900,NM_018905,NM_018906,NM_018907,NM_031500 PCDHA1,PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA4 EXON Silent,Silent,Silent,Silent,Missense_P134L,Missense_P134L exm483583 5 140187182 [A/C] NM_031411,NM_018900,NM_018905,NM_018906,NM_018907,NM_031500 PCDHA1,PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA4 EXON Silent,Silent,Silent,Silent,Missense_Q137P,Missense_Q137P exm483588 5 140187322 [T/C] NM_031411,NM_018900,NM_018905,NM_018906,NM_018907,NM_031500 PCDHA1,PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA4 EXON Silent,Silent,Silent,Silent,Missense_P184S,Missense_P184S exm483608 5 140187664 [A/G] NM_031411,NM_018900,NM_018905,NM_018906,NM_018907,NM_031500 PCDHA1,PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA4 EXON Silent,Silent,Silent,Silent,Missense_I298V,Missense_I298V exm483610 5 140187692 [A/G] NM_031411,NM_018900,NM_018905,NM_018906,NM_018907,NM_031500 PCDHA1,PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA4 EXON Silent,Silent,Silent,Silent,Missense_Y307C,Missense_Y307C exm483667 5 140188702 [T/C] NM_031411,NM_018900,NM_018905,NM_018906,NM_018907,NM_031500 PCDHA1,PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA4 EXON Silent,Silent,Silent,Silent,Missense_R644C,Missense_R644C exm483680 5 140188891 [T/G] NM_031411,NM_018900,NM_018905,NM_018906,NM_018907,NM_031500 PCDHA1,PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA4 EXON Silent,Silent,Silent,Silent,Missense_V707L,Missense_V707L exm483703 5 140201418 [T/C] NM_031411,NM_018900,NM_018905,NM_018906,NM_018907,NM_031501,NM_018908 PCDHA1,PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA5 EXON Silent,Silent,Silent,Silent,Silent,Missense_L20F,Missense_L20F exm483720 5 140201798 [T/G] NM_031411,NM_018900,NM_018905,NM_018906,NM_018907,NM_031501,NM_018908 PCDHA1,PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA5 EXON Silent,Silent,Silent,Silent,Silent,Missense_M146I,Missense_M146I exm483726 5 140201919 [A/G] NM_031411,NM_018900,NM_018905,NM_018906,NM_018907,NM_031501,NM_018908 PCDHA1,PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA5 EXON Silent,Silent,Silent,Silent,Silent,Missense_E187K,Missense_E187K exm483737 5 140202132 [A/G] NM_031411,NM_018900,NM_018905,NM_018906,NM_018907,NM_031501,NM_018908 PCDHA1,PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA5 EXON Silent,Silent,Silent,Silent,Silent,Missense_T258A,Missense_T258A exm2241785 5 140202333 [A/G] NM_031411,NM_018900,NM_018905,NM_018906,NM_018907,NM_031501,NM_018908 PCDHA1,PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA5 EXON Silent,Silent,Silent,Silent,Silent,Missense_S325G,Missense_S325G exm483743 5 140202337 [A/C] NM_031411,NM_018900,NM_018905,NM_018906,NM_018907,NM_031501,NM_018908 PCDHA1,PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA5 EXON Silent,Silent,Silent,Silent,Silent,Missense_T326K,Missense_T326K exm483746 5 140202418 [A/C] NM_031411,NM_018900,NM_018905,NM_018906,NM_018907,NM_031501,NM_018908 PCDHA1,PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA5 EXON Silent,Silent,Silent,Silent,Silent,Missense_T353N,Missense_T353N exm483747 5 140202484 [A/T] NM_031411,NM_018900,NM_018905,NM_018906,NM_018907,NM_031501,NM_018908 PCDHA1,PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA5 EXON Silent,Silent,Silent,Silent,Silent,Missense_D375V,Missense_D375V exm483802 5 140203231 [A/G] NM_031411,NM_018900,NM_018905,NM_018906,NM_018907,NM_031501,NM_018908 PCDHA1,PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA5 EXON Silent,Silent,Silent,Silent,Silent,Missense_G624E,Missense_G624E exm2241787 5 140203608 [A/T] NM_031411,NM_018900,NM_018905,NM_018906,NM_018907,NM_031501,NM_018908 PCDHA1,PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA5 EXON Silent,Silent,Silent,Silent,Silent,Missense_S750T,Missense_S750T exm483822 5 140203673 [C/G] NM_031411,NM_018900,NM_018905,NM_018906,NM_018907,NM_031501,NM_018908 PCDHA1,PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA5 EXON Silent,Silent,Silent,Silent,Silent,Missense_F771L,Missense_F771L exm483832 5 140207681 [T/C] NM_031411,NM_018900,NM_018905,NM_018906,NM_018907,NM_018908,NM_031849,NM_018909,NM_031848 PCDHA1,PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA6,PCDHA6 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_V2A,Missense_V2A,Missense_V2A exm483862 5 140208301 [A/C] NM_031411,NM_018900,NM_018905,NM_018906,NM_018907,NM_018908,NM_031849,NM_018909,NM_031848 PCDHA1,PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA6,PCDHA6 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_N209H,Missense_N209H,Missense_N209H exm483972 5 140209717 [T/C] NM_031411,NM_018900,NM_018905,NM_018906,NM_018907,NM_018908,NM_031849,NM_018909,NM_031848 PCDHA1,PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA6,PCDHA6 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_R681W,Missense_R681W exm483995 5 140209973 [A/G] NM_031411,NM_018900,NM_018905,NM_018906,NM_018907,NM_018908,NM_031849,NM_018909,NM_031848 PCDHA1,PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA6,PCDHA6 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_K766R,Missense_K766R exm483996 5 140209988 [T/C] NM_031411,NM_018900,NM_018905,NM_018906,NM_018907,NM_018908,NM_031849,NM_018909,NM_031848 PCDHA1,PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA6,PCDHA6 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_A771V,Missense_A771V exm483998 5 140210033 [T/C] NM_031411,NM_018900,NM_018905,NM_018906,NM_018907,NM_018908,NM_031849,NM_018909,NM_031848 PCDHA1,PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA6,PCDHA6 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_A786V,Missense_A786V exm484005 5 140213970 [T/G] NM_031411,NM_018900,NM_018905,NM_018906,NM_018907,NM_018908,NM_031849,NM_018909,NM_031852,NM_018910 PCDHA1,PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA6,PCDHA7,PCDHA7 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_M1R,Missense_M1R exm484006 5 140213972 [A/G] NM_031411,NM_018900,NM_018905,NM_018906,NM_018907,NM_018908,NM_031849,NM_018909,NM_031852,NM_018910 PCDHA1,PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA6,PCDHA7,PCDHA7 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_V2M,Missense_V2M exm484011 5 140214045 [A/C] NM_031411,NM_018900,NM_018905,NM_018906,NM_018907,NM_018908,NM_031849,NM_018909,NM_031852,NM_018910 PCDHA1,PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA6,PCDHA7,PCDHA7 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_A26E,Missense_A26E exm484017 5 140214107 [T/C] NM_031411,NM_018900,NM_018905,NM_018906,NM_018907,NM_018908,NM_031849,NM_018909,NM_031852,NM_018910 PCDHA1,PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA6,PCDHA7,PCDHA7 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_R47C,Missense_R47C exm484051 5 140214995 [A/G] NM_031411,NM_018900,NM_018905,NM_018906,NM_018907,NM_018908,NM_031849,NM_018909,NM_031852,NM_018910 PCDHA1,PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA6,PCDHA7,PCDHA7 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_V343I,Missense_V343I exm2275825 5 140215728 [A/C] NM_031411,NM_018900,NM_018905,NM_018906,NM_018907,NM_018908,NM_031849,NM_018909,NM_031852,NM_018910 PCDHA1,PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA6,PCDHA7,PCDHA7 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_A587E,Missense_A587E exm484102 5 140215833 [T/C] NM_031411,NM_018900,NM_018905,NM_018906,NM_018907,NM_018908,NM_031849,NM_018909,NM_031852,NM_018910 PCDHA1,PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA6,PCDHA7,PCDHA7 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_F622S,Missense_F622S exm484105 5 140215892 [A/G] NM_031411,NM_018900,NM_018905,NM_018906,NM_018907,NM_018908,NM_031849,NM_018909,NM_031852,NM_018910 PCDHA1,PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA6,PCDHA7,PCDHA7 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_A642T,Missense_A642T exm484116 5 140216004 [C/G] NM_031411,NM_018900,NM_018905,NM_018906,NM_018907,NM_018908,NM_031849,NM_018909,NM_031852,NM_018910 PCDHA1,PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA6,PCDHA7,PCDHA7 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_S679W,Missense_S679W exm484121 5 140216042 [A/G] NM_031411,NM_018900,NM_018905,NM_018906,NM_018907,NM_018908,NM_031849,NM_018909,NM_031852,NM_018910 PCDHA1,PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA6,PCDHA7,PCDHA7 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_E692K,Missense_E692K exm484142 5 140216328 [A/G] NM_031411,NM_018900,NM_018905,NM_018906,NM_018907,NM_018908,NM_031849,NM_018909,NM_031852,NM_018910 PCDHA1,PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA6,PCDHA7,PCDHA7 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_S787N,Silent exm484144 5 140220910 [A/G] NM_031411,NM_018900,NM_018905,NM_018906,NM_018907,NM_018908,NM_031849,NM_018909,NM_018910,NM_018911,NM_031856 PCDHA1,PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA6,PCDHA7,PCDHA8,PCDHA8 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_D2N,Missense_D2N exm484175 5 140221412 [A/C] NM_031411,NM_018900,NM_018905,NM_018906,NM_018907,NM_018908,NM_031849,NM_018909,NM_018910,NM_018911,NM_031856 PCDHA1,PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA6,PCDHA7,PCDHA8,PCDHA8 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_T169N,Missense_T169N exm484178 5 140221447 [G/C] NM_031411,NM_018900,NM_018905,NM_018906,NM_018907,NM_018908,NM_031849,NM_018909,NM_018910,NM_018911,NM_031856 PCDHA1,PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA6,PCDHA7,PCDHA8,PCDHA8 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_D181H,Missense_D181H exm484180 5 140221472 [A/C] NM_031411,NM_018900,NM_018905,NM_018906,NM_018907,NM_018908,NM_031849,NM_018909,NM_018910,NM_018911,NM_031856 PCDHA1,PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA6,PCDHA7,PCDHA8,PCDHA8 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_N189T,Missense_N189T exm2256971 5 140221926 [T/C] NM_031411,NM_018900,NM_018905,NM_018906,NM_018907,NM_018908,NM_031849,NM_018909,NM_018910,NM_018911,NM_031856 PCDHA1,PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA6,PCDHA7,PCDHA8,PCDHA8 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Synonymous_I340I,Synonymous_I340I exm484237 5 140222461 [T/G] NM_031411,NM_018900,NM_018905,NM_018906,NM_018907,NM_018908,NM_031849,NM_018909,NM_018910,NM_018911,NM_031856 PCDHA1,PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA6,PCDHA7,PCDHA8,PCDHA8 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_A519S,Missense_A519S exm484293 5 140223185 [T/C] NM_031411,NM_018900,NM_018905,NM_018906,NM_018907,NM_018908,NM_031849,NM_018909,NM_018910,NM_018911,NM_031856 PCDHA1,PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA6,PCDHA7,PCDHA8,PCDHA8 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_S760F,Missense_S760F exm484294 5 140223194 [C/G] NM_031411,NM_018900,NM_018905,NM_018906,NM_018907,NM_018908,NM_031849,NM_018909,NM_018910,NM_018911,NM_031856 PCDHA1,PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA6,PCDHA7,PCDHA8,PCDHA8 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_G763A,Missense_G763A exm484321 5 140228262 [A/C] NM_031411,NM_018900,NM_018905,NM_018906,NM_018907,NM_018908,NM_031849,NM_018909,NM_018910,NM_018911,NM_014005,NM_031857 PCDHA1,PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHA9 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_P61Q,Missense_P61Q exm484367 5 140229215 [T/G] NM_031411,NM_018900,NM_018905,NM_018906,NM_018907,NM_018908,NM_031849,NM_018909,NM_018910,NM_018911,NM_014005,NM_031857 PCDHA1,PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHA9 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_A379S,Missense_A379S exm484372 5 140229284 [T/A] NM_031411,NM_018900,NM_018905,NM_018906,NM_018907,NM_018908,NM_031849,NM_018909,NM_018910,NM_018911,NM_014005,NM_031857 PCDHA1,PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHA9 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Nonsense_K402X,Nonsense_K402X exm484422 5 140229786 [A/G] NM_031411,NM_018900,NM_018905,NM_018906,NM_018907,NM_018908,NM_031849,NM_018909,NM_018910,NM_018911,NM_014005,NM_031857 PCDHA1,PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHA9 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_R569Q,Missense_R569Q exm484436 5 140229942 [T/C] NM_031411,NM_018900,NM_018905,NM_018906,NM_018907,NM_018908,NM_031849,NM_018909,NM_018910,NM_018911,NM_014005,NM_031857 PCDHA1,PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHA9 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_P621L,Missense_P621L exm484450 5 140230143 [A/G] NM_031411,NM_018900,NM_018905,NM_018906,NM_018907,NM_018908,NM_031849,NM_018909,NM_018910,NM_018911,NM_014005,NM_031857 PCDHA1,PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHA9 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_G688D,Missense_G688D exm484452 5 140230187 [T/G] NM_031411,NM_018900,NM_018905,NM_018906,NM_018907,NM_018908,NM_031849,NM_018909,NM_018910,NM_018911,NM_014005,NM_031857 PCDHA1,PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHA9 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_A703S,Missense_A703S exm484467 5 140230371 [A/C] NM_031411,NM_018900,NM_018905,NM_018906,NM_018907,NM_018908,NM_031849,NM_018909,NM_018910,NM_018911,NM_014005,NM_031857 PCDHA1,PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHA9 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_K764T,Missense_K764T exm484473 5 140230533 [A/G] NM_031411,NM_018900,NM_018905,NM_018906,NM_018907,NM_018908,NM_031849,NM_018909,NM_018910,NM_018911,NM_014005,NM_031857 PCDHA1,PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHA9 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_R818Q,Silent exm484475 5 140230548 [A/C] NM_031411,NM_018900,NM_018905,NM_018906,NM_018907,NM_018908,NM_031849,NM_018909,NM_018910,NM_018911,NM_014005,NM_031857 PCDHA1,PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHA9 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_A823D,Silent exm484509 5 140236189 [C/G] NM_031411,NM_018900,NM_018905,NM_018906,NM_018907,NM_018908,NM_031849,NM_018909,NM_018910,NM_018911,NM_031857,NM_031859,NM_018901,NM_031860 PCDHA1,PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHA10,PCDHA10,PCDHA10 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_D186H,Missense_D186H,Missense_D186H exm2241798 5 140236328 [T/C] NM_031411,NM_018900,NM_018905,NM_018906,NM_018907,NM_018908,NM_031849,NM_018909,NM_018910,NM_018911,NM_031857,NM_031859,NM_018901,NM_031860 PCDHA1,PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHA10,PCDHA10,PCDHA10 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_L232S,Missense_L232S,Missense_L232S exm484516 5 140236382 [T/C] NM_031411,NM_018900,NM_018905,NM_018906,NM_018907,NM_018908,NM_031849,NM_018909,NM_018910,NM_018911,NM_031857,NM_031859,NM_018901,NM_031860 PCDHA1,PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHA10,PCDHA10,PCDHA10 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_M250T,Missense_M250T,Missense_M250T exm484527 5 140236627 [T/C] NM_031411,NM_018900,NM_018905,NM_018906,NM_018907,NM_018908,NM_031849,NM_018909,NM_018910,NM_018911,NM_031857,NM_031859,NM_018901,NM_031860 PCDHA1,PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHA10,PCDHA10,PCDHA10 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_H332Y,Missense_H332Y,Missense_H332Y exm484530 5 140236703 [T/C] NM_031411,NM_018900,NM_018905,NM_018906,NM_018907,NM_018908,NM_031849,NM_018909,NM_018910,NM_018911,NM_031857,NM_031859,NM_018901,NM_031860 PCDHA1,PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHA10,PCDHA10,PCDHA10 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_P357L,Missense_P357L,Missense_P357L exm484531 5 140236732 [A/G] NM_031411,NM_018900,NM_018905,NM_018906,NM_018907,NM_018908,NM_031849,NM_018909,NM_018910,NM_018911,NM_031857,NM_031859,NM_018901,NM_031860 PCDHA1,PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHA10,PCDHA10,PCDHA10 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_V367I,Missense_V367I,Missense_V367I exm484587 5 140237558 [G/C] NM_031411,NM_018900,NM_018905,NM_018906,NM_018907,NM_018908,NM_031849,NM_018909,NM_018910,NM_018911,NM_031857,NM_031859,NM_018901,NM_031860 PCDHA1,PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHA10,PCDHA10,PCDHA10 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_P642R,Missense_P642R,Silent exm484609 5 140238055 [T/C] NM_031411,NM_018900,NM_018905,NM_018906,NM_018907,NM_018908,NM_031849,NM_018909,NM_018910,NM_018911,NM_031857,NM_031859,NM_018901,NM_031860 PCDHA1,PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHA10,PCDHA10,PCDHA10 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_F808L,Silent,Silent exm484611 5 140238124 [A/T] NM_031411,NM_018900,NM_018905,NM_018906,NM_018907,NM_018908,NM_031849,NM_018909,NM_018910,NM_018911,NM_031857,NM_031859,NM_018901,NM_031860 PCDHA1,PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHA10,PCDHA10,PCDHA10 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_F831I,Silent,Silent exm484612 5 140248740 [G/C] NM_031411,NM_018900,NM_018905,NM_018906,NM_018907,NM_018908,NM_031849,NM_018909,NM_018910,NM_018911,NM_031857,NM_018901,NM_031860,NM_031861,NM_018902 PCDHA1,PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHA10,PCDHA10,PCDHA11,PCDHA11 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_L18V,Missense_L18V exm484615 5 140248773 [T/G] NM_031411,NM_018900,NM_018905,NM_018906,NM_018907,NM_018908,NM_031849,NM_018909,NM_018910,NM_018911,NM_031857,NM_018901,NM_031860,NM_031861,NM_018902 PCDHA1,PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHA10,PCDHA10,PCDHA11,PCDHA11 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_G29C,Missense_G29C exm484635 5 140249154 [A/G] NM_031411,NM_018900,NM_018905,NM_018906,NM_018907,NM_018908,NM_031849,NM_018909,NM_018910,NM_018911,NM_031857,NM_018901,NM_031860,NM_031861,NM_018902 PCDHA1,PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHA10,PCDHA10,PCDHA11,PCDHA11 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_G156R,Missense_G156R exm484640 5 140249284 [A/C] NM_031411,NM_018900,NM_018905,NM_018906,NM_018907,NM_018908,NM_031849,NM_018909,NM_018910,NM_018911,NM_031857,NM_018901,NM_031860,NM_031861,NM_018902 PCDHA1,PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHA10,PCDHA10,PCDHA11,PCDHA11 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_S199Y,Missense_S199Y exm2089026 5 140249362 [A/C] NM_031411,NM_018900,NM_018905,NM_018906,NM_018907,NM_018908,NM_031849,NM_018909,NM_018910,NM_018911,NM_031857,NM_018901,NM_031860,NM_031861,NM_018902 PCDHA1,PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHA10,PCDHA10,PCDHA11,PCDHA11 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_T225N,Missense_T225N exm484650 5 140249554 [A/G] NM_031411,NM_018900,NM_018905,NM_018906,NM_018907,NM_018908,NM_031849,NM_018909,NM_018910,NM_018911,NM_031857,NM_018901,NM_031860,NM_031861,NM_018902 PCDHA1,PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHA10,PCDHA10,PCDHA11,PCDHA11 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_R289K,Missense_R289K exm484713 5 140250471 [T/G] NM_031411,NM_018900,NM_018905,NM_018906,NM_018907,NM_018908,NM_031849,NM_018909,NM_018910,NM_018911,NM_031857,NM_018901,NM_031860,NM_031861,NM_018902 PCDHA1,PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHA10,PCDHA10,PCDHA11,PCDHA11 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_A595S,Missense_A595S exm484721 5 140250618 [G/C] NM_031411,NM_018900,NM_018905,NM_018906,NM_018907,NM_018908,NM_031849,NM_018909,NM_018910,NM_018911,NM_031857,NM_018901,NM_031860,NM_031861,NM_018902 PCDHA1,PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHA10,PCDHA10,PCDHA11,PCDHA11 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_H644D,Missense_H644D exm484724 5 140250688 [A/C] NM_031411,NM_018900,NM_018905,NM_018906,NM_018907,NM_018908,NM_031849,NM_018909,NM_018910,NM_018911,NM_031857,NM_018901,NM_031860,NM_031861,NM_018902 PCDHA1,PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHA10,PCDHA10,PCDHA11,PCDHA11 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Nonsense_S667X,Nonsense_S667X exm484744 5 140250985 [C/G] NM_031411,NM_018900,NM_018905,NM_018906,NM_018907,NM_018908,NM_031849,NM_018909,NM_018910,NM_018911,NM_031857,NM_018901,NM_031860,NM_031861,NM_018902 PCDHA1,PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHA10,PCDHA10,PCDHA11,PCDHA11 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_T766R,Missense_T766R exm484749 5 140255119 [T/G] NM_031411,NM_018900,NM_018905,NM_018906,NM_018907,NM_018908,NM_031849,NM_018909,NM_018910,NM_018911,NM_031857,NM_018901,NM_031860,NM_018902,NM_018903,NM_031864 PCDHA1,PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHA10,PCDHA10,PCDHA11,PCDHA12,PCDHA12 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_L21R,Missense_L21R exm484773 5 140255566 [A/G] NM_031411,NM_018900,NM_018905,NM_018906,NM_018907,NM_018908,NM_031849,NM_018909,NM_018910,NM_018911,NM_031857,NM_018901,NM_031860,NM_018902,NM_018903,NM_031864 PCDHA1,PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHA10,PCDHA10,PCDHA11,PCDHA12,PCDHA12 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_Y170C,Missense_Y170C exm484778 5 140255731 [G/C] NM_031411,NM_018900,NM_018905,NM_018906,NM_018907,NM_018908,NM_031849,NM_018909,NM_018910,NM_018911,NM_031857,NM_018901,NM_031860,NM_018902,NM_018903,NM_031864 PCDHA1,PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHA10,PCDHA10,PCDHA11,PCDHA12,PCDHA12 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_S225C,Missense_S225C exm484787 5 140255907 [A/C] NM_031411,NM_018900,NM_018905,NM_018906,NM_018907,NM_018908,NM_031849,NM_018909,NM_018910,NM_018911,NM_031857,NM_018901,NM_031860,NM_018902,NM_018903,NM_031864 PCDHA1,PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHA10,PCDHA10,PCDHA11,PCDHA12,PCDHA12 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_I284L,Missense_I284L exm484796 5 140256186 [A/C] NM_031411,NM_018900,NM_018905,NM_018906,NM_018907,NM_018908,NM_031849,NM_018909,NM_018910,NM_018911,NM_031857,NM_018901,NM_031860,NM_018902,NM_018903,NM_031864 PCDHA1,PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHA10,PCDHA10,PCDHA11,PCDHA12,PCDHA12 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_R377S,Missense_R377S exm484797 5 140256202 [A/G] NM_031411,NM_018900,NM_018905,NM_018906,NM_018907,NM_018908,NM_031849,NM_018909,NM_018910,NM_018911,NM_031857,NM_018901,NM_031860,NM_018902,NM_018903,NM_031864 PCDHA1,PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHA10,PCDHA10,PCDHA11,PCDHA12,PCDHA12 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_N382S,Missense_N382S exm484872 5 140257401 [A/G] NM_031411,NM_018900,NM_018905,NM_018906,NM_018907,NM_018908,NM_031849,NM_018909,NM_018910,NM_018911,NM_031857,NM_018901,NM_031860,NM_018902,NM_018903,NM_031864 PCDHA1,PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHA10,PCDHA10,PCDHA11,PCDHA12,PCDHA12 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_D782N,Missense_D782N exm484874 5 140261867 [T/G] NM_031411,NM_018900,NM_018905,NM_018906,NM_018907,NM_018908,NM_031849,NM_018909,NM_018910,NM_018911,NM_031857,NM_018901,NM_031860,NM_018902,NM_018903,NM_031865,NM_018904 PCDHA1,PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHA10,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA13 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_W5L,Missense_W5L exm484917 5 140262595 [A/G] NM_031411,NM_018900,NM_018905,NM_018906,NM_018907,NM_018908,NM_031849,NM_018909,NM_018910,NM_018911,NM_031857,NM_018901,NM_031860,NM_018902,NM_018903,NM_031865,NM_018904 PCDHA1,PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHA10,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA13 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_K248E,Missense_K248E exm484919 5 140262697 [A/G] NM_031411,NM_018900,NM_018905,NM_018906,NM_018907,NM_018908,NM_031849,NM_018909,NM_018910,NM_018911,NM_031857,NM_018901,NM_031860,NM_018902,NM_018903,NM_031865,NM_018904 PCDHA1,PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHA10,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA13 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_R282G,Missense_R282G exm484926 5 140262834 [A/T] NM_031411,NM_018900,NM_018905,NM_018906,NM_018907,NM_018908,NM_031849,NM_018909,NM_018910,NM_018911,NM_031857,NM_018901,NM_031860,NM_018902,NM_018903,NM_031865,NM_018904 PCDHA1,PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHA10,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA13 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_N327K,Missense_N327K exm484930 5 140262926 [A/C] NM_031411,NM_018900,NM_018905,NM_018906,NM_018907,NM_018908,NM_031849,NM_018909,NM_018910,NM_018911,NM_031857,NM_018901,NM_031860,NM_018902,NM_018903,NM_031865,NM_018904 PCDHA1,PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHA10,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA13 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_P358H,Missense_P358H exm484933 5 140262951 [A/C] NM_031411,NM_018900,NM_018905,NM_018906,NM_018907,NM_018908,NM_031849,NM_018909,NM_018910,NM_018911,NM_031857,NM_018901,NM_031860,NM_018902,NM_018903,NM_031865,NM_018904 PCDHA1,PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHA10,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA13 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_S366R,Missense_S366R exm2089093 5 140263018 [T/G] NM_031411,NM_018900,NM_018905,NM_018906,NM_018907,NM_018908,NM_031849,NM_018909,NM_018910,NM_018911,NM_031857,NM_018901,NM_031860,NM_018902,NM_018903,NM_031865,NM_018904 PCDHA1,PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHA10,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA13 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_L389V,Missense_L389V exm484997 5 140264206 [A/G] NM_031411,NM_018900,NM_018905,NM_018906,NM_018907,NM_018908,NM_031849,NM_018909,NM_018910,NM_018911,NM_031857,NM_018901,NM_031860,NM_018902,NM_018903,NM_031865,NM_018904 PCDHA1,PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHA10,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA13 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_G785R,Missense_G785R exm484998 5 140264212 [C/G] NM_031411,NM_018900,NM_018905,NM_018906,NM_018907,NM_018908,NM_031849,NM_018909,NM_018910,NM_018911,NM_031857,NM_018901,NM_031860,NM_018902,NM_018903,NM_031865,NM_018904 PCDHA1,PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHA10,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA13 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_G787R,Missense_G787R exm485000 5 140264271 [C/G] NM_031411,NM_018900,NM_018905,NM_018906,NM_018907,NM_018908,NM_031849,NM_018909,NM_018910,NM_018911,NM_031857,NM_018901,NM_031860,NM_018902,NM_018903,NM_031865,NM_018904 PCDHA1,PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHA10,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA13 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_L806F,Silent exm485002 5 140306489 [T/G] NM_031411,NM_018900,NM_018905,NM_018906,NM_018907,NM_018908,NM_031849,NM_018909,NM_018910,NM_018911,NM_031857,NM_018901,NM_031860,NM_018902,NM_018903,NM_018904,NM_018898,NM_031882 PCDHA1,PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHA10,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHAC1,PCDHAC1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_C4W,Missense_C4W exm485009 5 140306559 [T/G] NM_031411,NM_018900,NM_018905,NM_018906,NM_018907,NM_018908,NM_031849,NM_018909,NM_018910,NM_018911,NM_031857,NM_018901,NM_031860,NM_018902,NM_018903,NM_018904,NM_018898,NM_031882 PCDHA1,PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHA10,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHAC1,PCDHAC1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Nonsense_E28X,Nonsense_E28X exm485028 5 140306929 [A/G] NM_031411,NM_018900,NM_018905,NM_018906,NM_018907,NM_018908,NM_031849,NM_018909,NM_018910,NM_018911,NM_031857,NM_018901,NM_031860,NM_018902,NM_018903,NM_018904,NM_018898,NM_031882 PCDHA1,PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHA10,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHAC1,PCDHAC1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_D151G,Missense_D151G exm485033 5 140307057 [A/G] NM_031411,NM_018900,NM_018905,NM_018906,NM_018907,NM_018908,NM_031849,NM_018909,NM_018910,NM_018911,NM_031857,NM_018901,NM_031860,NM_018902,NM_018903,NM_018904,NM_018898,NM_031882 PCDHA1,PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHA10,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHAC1,PCDHAC1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_E194K,Missense_E194K exm485036 5 140307082 [T/G] NM_031411,NM_018900,NM_018905,NM_018906,NM_018907,NM_018908,NM_031849,NM_018909,NM_018910,NM_018911,NM_031857,NM_018901,NM_031860,NM_018902,NM_018903,NM_018904,NM_018898,NM_031882 PCDHA1,PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHA10,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHAC1,PCDHAC1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_V202G,Missense_V202G exm485048 5 140307271 [A/G] NM_031411,NM_018900,NM_018905,NM_018906,NM_018907,NM_018908,NM_031849,NM_018909,NM_018910,NM_018911,NM_031857,NM_018901,NM_031860,NM_018902,NM_018903,NM_018904,NM_018898,NM_031882 PCDHA1,PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHA10,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHAC1,PCDHAC1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_N265S,Missense_N265S exm485050 5 140307304 [A/C] NM_031411,NM_018900,NM_018905,NM_018906,NM_018907,NM_018908,NM_031849,NM_018909,NM_018910,NM_018911,NM_031857,NM_018901,NM_031860,NM_018902,NM_018903,NM_018904,NM_018898,NM_031882 PCDHA1,PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHA10,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHAC1,PCDHAC1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_T276K,Missense_T276K exm2241810 5 140307450 [A/G] NM_031411,NM_018900,NM_018905,NM_018906,NM_018907,NM_018908,NM_031849,NM_018909,NM_018910,NM_018911,NM_031857,NM_018901,NM_031860,NM_018902,NM_018903,NM_018904,NM_018898,NM_031882 PCDHA1,PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHA10,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHAC1,PCDHAC1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_K325E,Missense_K325E exm485063 5 140307567 [T/G] NM_031411,NM_018900,NM_018905,NM_018906,NM_018907,NM_018908,NM_031849,NM_018909,NM_018910,NM_018911,NM_031857,NM_018901,NM_031860,NM_018902,NM_018903,NM_018904,NM_018898,NM_031882 PCDHA1,PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHA10,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHAC1,PCDHAC1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_V364L,Missense_V364L exm485066 5 140307582 [T/C] NM_031411,NM_018900,NM_018905,NM_018906,NM_018907,NM_018908,NM_031849,NM_018909,NM_018910,NM_018911,NM_031857,NM_018901,NM_031860,NM_018902,NM_018903,NM_018904,NM_018898,NM_031882 PCDHA1,PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHA10,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHAC1,PCDHAC1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_L369F,Missense_L369F exm485070 5 140307642 [T/G] NM_031411,NM_018900,NM_018905,NM_018906,NM_018907,NM_018908,NM_031849,NM_018909,NM_018910,NM_018911,NM_031857,NM_018901,NM_031860,NM_018902,NM_018903,NM_018904,NM_018898,NM_031882 PCDHA1,PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHA10,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHAC1,PCDHAC1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_A389S,Missense_A389S exm485073 5 140307699 [A/C] NM_031411,NM_018900,NM_018905,NM_018906,NM_018907,NM_018908,NM_031849,NM_018909,NM_018910,NM_018911,NM_031857,NM_018901,NM_031860,NM_018902,NM_018903,NM_018904,NM_018898,NM_031882 PCDHA1,PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHA10,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHAC1,PCDHAC1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_I408L,Missense_I408L exm485077 5 140307823 [A/G] NM_031411,NM_018900,NM_018905,NM_018906,NM_018907,NM_018908,NM_031849,NM_018909,NM_018910,NM_018911,NM_031857,NM_018901,NM_031860,NM_018902,NM_018903,NM_018904,NM_018898,NM_031882 PCDHA1,PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHA10,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHAC1,PCDHAC1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_Q449R,Missense_Q449R exm2089115 5 140307936 [A/G] NM_031411,NM_018900,NM_018905,NM_018906,NM_018907,NM_018908,NM_031849,NM_018909,NM_018910,NM_018911,NM_031857,NM_018901,NM_031860,NM_018902,NM_018903,NM_018904,NM_018898,NM_031882 PCDHA1,PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHA10,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHAC1,PCDHAC1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_V487I,Missense_V487I exm485086 5 140307951 [T/C] NM_031411,NM_018900,NM_018905,NM_018906,NM_018907,NM_018908,NM_031849,NM_018909,NM_018910,NM_018911,NM_031857,NM_018901,NM_031860,NM_018902,NM_018903,NM_018904,NM_018898,NM_031882 PCDHA1,PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHA10,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHAC1,PCDHAC1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_P492S,Missense_P492S exm485087 5 140307964 [A/G] NM_031411,NM_018900,NM_018905,NM_018906,NM_018907,NM_018908,NM_031849,NM_018909,NM_018910,NM_018911,NM_031857,NM_018901,NM_031860,NM_018902,NM_018903,NM_018904,NM_018898,NM_031882 PCDHA1,PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHA10,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHAC1,PCDHAC1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_S496N,Missense_S496N exm485088 5 140307969 [G/C] NM_031411,NM_018900,NM_018905,NM_018906,NM_018907,NM_018908,NM_031849,NM_018909,NM_018910,NM_018911,NM_031857,NM_018901,NM_031860,NM_018902,NM_018903,NM_018904,NM_018898,NM_031882 PCDHA1,PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHA10,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHAC1,PCDHAC1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_L498V,Missense_L498V exm485090 5 140308126 [T/A] NM_031411,NM_018900,NM_018905,NM_018906,NM_018907,NM_018908,NM_031849,NM_018909,NM_018910,NM_018911,NM_031857,NM_018901,NM_031860,NM_018902,NM_018903,NM_018904,NM_018898,NM_031882 PCDHA1,PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHA10,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHAC1,PCDHAC1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_D550V,Missense_D550V exm485091 5 140308137 [A/G] NM_031411,NM_018900,NM_018905,NM_018906,NM_018907,NM_018908,NM_031849,NM_018909,NM_018910,NM_018911,NM_031857,NM_018901,NM_031860,NM_018902,NM_018903,NM_018904,NM_018898,NM_031882 PCDHA1,PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHA10,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHAC1,PCDHAC1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_V554I,Missense_V554I exm485102 5 140308281 [T/C] NM_031411,NM_018900,NM_018905,NM_018906,NM_018907,NM_018908,NM_031849,NM_018909,NM_018910,NM_018911,NM_031857,NM_018901,NM_031860,NM_018902,NM_018903,NM_018904,NM_018898,NM_031882 PCDHA1,PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHA10,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHAC1,PCDHAC1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_R602W,Missense_R602W exm2089118 5 140308333 [A/G] NM_031411,NM_018900,NM_018905,NM_018906,NM_018907,NM_018908,NM_031849,NM_018909,NM_018910,NM_018911,NM_031857,NM_018901,NM_031860,NM_018902,NM_018903,NM_018904,NM_018898,NM_031882 PCDHA1,PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHA10,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHAC1,PCDHAC1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_R619H,Missense_R619H exm485110 5 140308591 [T/C] NM_031411,NM_018900,NM_018905,NM_018906,NM_018907,NM_018908,NM_031849,NM_018909,NM_018910,NM_018911,NM_031857,NM_018901,NM_031860,NM_018902,NM_018903,NM_018904,NM_018898,NM_031882 PCDHA1,PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHA10,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHAC1,PCDHAC1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_T705I,Missense_T705I exm485111 5 140308620 [T/G] NM_031411,NM_018900,NM_018905,NM_018906,NM_018907,NM_018908,NM_031849,NM_018909,NM_018910,NM_018911,NM_031857,NM_018901,NM_031860,NM_018902,NM_018903,NM_018904,NM_018898,NM_031882 PCDHA1,PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHA10,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHAC1,PCDHAC1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_A715S,Missense_A715S exm485115 5 140308664 [T/G] NM_031411,NM_018900,NM_018905,NM_018906,NM_018907,NM_018908,NM_031849,NM_018909,NM_018910,NM_018911,NM_031857,NM_018901,NM_031860,NM_018902,NM_018903,NM_018904,NM_018898,NM_031882 PCDHA1,PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHA10,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHAC1,PCDHAC1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_S729R,Missense_S729R exm485116 5 140308681 [T/C] NM_031411,NM_018900,NM_018905,NM_018906,NM_018907,NM_018908,NM_031849,NM_018909,NM_018910,NM_018911,NM_031857,NM_018901,NM_031860,NM_018902,NM_018903,NM_018904,NM_018898,NM_031882 PCDHA1,PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHA10,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHAC1,PCDHAC1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_P735L,Missense_P735L exm485126 5 140308812 [G/C] NM_031411,NM_018900,NM_018905,NM_018906,NM_018907,NM_018908,NM_031849,NM_018909,NM_018910,NM_018911,NM_031857,NM_018901,NM_031860,NM_018902,NM_018903,NM_018904,NM_018898,NM_031882 PCDHA1,PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHA10,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHAC1,PCDHAC1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_D779H,Missense_D779H exm485128 5 140308854 [A/G] NM_031411,NM_018900,NM_018905,NM_018906,NM_018907,NM_018908,NM_031849,NM_018909,NM_018910,NM_018911,NM_031857,NM_018901,NM_031860,NM_018902,NM_018903,NM_018904,NM_018898,NM_031882 PCDHA1,PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHA10,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHAC1,PCDHAC1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_I793V,Missense_I793V exm485132 5 140308903 [A/G] NM_031411,NM_018900,NM_018905,NM_018906,NM_018907,NM_018908,NM_031849,NM_018909,NM_018910,NM_018911,NM_031857,NM_018901,NM_031860,NM_018902,NM_018903,NM_018904,NM_018898,NM_031882 PCDHA1,PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHA10,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHAC1,PCDHAC1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_N809S,Missense_N809S exm2256973 5 140346712 [T/C] NM_031411,NM_018900,NM_018905,NM_018906,NM_018907,NM_018908,NM_031849,NM_018909,NM_018910,NM_018911,NM_031857,NM_018901,NM_031860,NM_018902,NM_018903,NM_018904,NM_018898,NM_018899,NM_031883 PCDHA1,PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHA10,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHAC1,PCDHAC2,PCDHAC2 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Synonymous_L121L,Synonymous_L121L exm485151 5 140346821 [T/C] NM_031411,NM_018900,NM_018905,NM_018906,NM_018907,NM_018908,NM_031849,NM_018909,NM_018910,NM_018911,NM_031857,NM_018901,NM_031860,NM_018902,NM_018903,NM_018904,NM_018898,NM_018899,NM_031883 PCDHA1,PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHA10,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHAC1,PCDHAC2,PCDHAC2 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_V157A,Missense_V157A exm485153 5 140346886 [A/G] NM_031411,NM_018900,NM_018905,NM_018906,NM_018907,NM_018908,NM_031849,NM_018909,NM_018910,NM_018911,NM_031857,NM_018901,NM_031860,NM_018902,NM_018903,NM_018904,NM_018898,NM_018899,NM_031883 PCDHA1,PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHA10,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHAC1,PCDHAC2,PCDHAC2 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_A179T,Missense_A179T exm485181 5 140347696 [T/C] NM_031411,NM_018900,NM_018905,NM_018906,NM_018907,NM_018908,NM_031849,NM_018909,NM_018910,NM_018911,NM_031857,NM_018901,NM_031860,NM_018902,NM_018903,NM_018904,NM_018898,NM_018899,NM_031883 PCDHA1,PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHA10,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHAC1,PCDHAC2,PCDHAC2 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_L449F,Missense_L449F exm485182 5 140347703 [T/C] NM_031411,NM_018900,NM_018905,NM_018906,NM_018907,NM_018908,NM_031849,NM_018909,NM_018910,NM_018911,NM_031857,NM_018901,NM_031860,NM_018902,NM_018903,NM_018904,NM_018898,NM_018899,NM_031883 PCDHA1,PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHA10,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHAC1,PCDHAC2,PCDHAC2 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_S451F,Missense_S451F exm485187 5 140347774 [T/G] NM_031411,NM_018900,NM_018905,NM_018906,NM_018907,NM_018908,NM_031849,NM_018909,NM_018910,NM_018911,NM_031857,NM_018901,NM_031860,NM_018902,NM_018903,NM_018904,NM_018898,NM_018899,NM_031883 PCDHA1,PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHA10,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHAC1,PCDHAC2,PCDHAC2 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_S475A,Missense_S475A exm2089137 5 140347787 [A/G] NM_031411,NM_018900,NM_018905,NM_018906,NM_018907,NM_018908,NM_031849,NM_018909,NM_018910,NM_018911,NM_031857,NM_018901,NM_031860,NM_018902,NM_018903,NM_018904,NM_018898,NM_018899,NM_031883 PCDHA1,PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHA10,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHAC1,PCDHAC2,PCDHAC2 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_Q479R,Missense_Q479R exm485211 5 140348389 [T/G] NM_031411,NM_018900,NM_018905,NM_018906,NM_018907,NM_018908,NM_031849,NM_018909,NM_018910,NM_018911,NM_031857,NM_018901,NM_031860,NM_018902,NM_018903,NM_018904,NM_018898,NM_018899,NM_031883 PCDHA1,PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHA10,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHAC1,PCDHAC2,PCDHAC2 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_V680L,Missense_V680L exm485213 5 140348446 [T/C] NM_031411,NM_018900,NM_018905,NM_018906,NM_018907,NM_018908,NM_031849,NM_018909,NM_018910,NM_018911,NM_031857,NM_018901,NM_031860,NM_018902,NM_018903,NM_018904,NM_018898,NM_018899,NM_031883 PCDHA1,PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHA10,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHAC1,PCDHAC2,PCDHAC2 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_R699W,Missense_R699W exm485215 5 140348508 [T/G] NM_031411,NM_018900,NM_018905,NM_018906,NM_018907,NM_018908,NM_031849,NM_018909,NM_018910,NM_018911,NM_031857,NM_018901,NM_031860,NM_018902,NM_018903,NM_018904,NM_018898,NM_018899,NM_031883 PCDHA1,PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHA10,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHAC1,PCDHAC2,PCDHAC2 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_F719L,Missense_F719L exm485220 5 140348672 [T/C] NM_031411,NM_018900,NM_018905,NM_018906,NM_018907,NM_018908,NM_031849,NM_018909,NM_018910,NM_018911,NM_031857,NM_018901,NM_031860,NM_018902,NM_018903,NM_018904,NM_018898,NM_018899,NM_031883 PCDHA1,PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHA10,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHAC1,PCDHAC2,PCDHAC2 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_V774A,Missense_V774A exm485229 5 140348838 [G/C] NM_031411,NM_018900,NM_018905,NM_018906,NM_018907,NM_018908,NM_031849,NM_018909,NM_018910,NM_018911,NM_031857,NM_018901,NM_031860,NM_018902,NM_018903,NM_018904,NM_018898,NM_018899,NM_031883 PCDHA1,PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHA10,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHAC1,PCDHAC2,PCDHAC2 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_S829R,Missense_S829R exm485232 5 140348950 [T/C] NM_031411,NM_018900,NM_018905,NM_018906,NM_018907,NM_018908,NM_031849,NM_018909,NM_018910,NM_018911,NM_031857,NM_018901,NM_031860,NM_018902,NM_018903,NM_018904,NM_018898,NM_018899,NM_031883 PCDHA1,PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHA10,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHAC1,PCDHAC2,PCDHAC2 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_H867Y exm485235 5 140358559 [A/G] NM_031411,NM_018900,NM_018905,NM_018906,NM_018907,NM_018908,NM_031849,NM_018909,NM_018910,NM_018911,NM_031857,NM_018901,NM_031860,NM_018902,NM_018903,NM_018904,NM_018898,NM_018899 PCDHA1,PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHA10,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHAC1,PCDHAC2 EXON Missense_R543H,Missense_R807H,Missense_R805H,Missense_R807H,Missense_R804H,Missense_R793H,Missense_R543H,Missense_R807H,Missense_R794H,Missense_R807H,Missense_R807H,Missense_R805H,Missense_R542H,Missense_R806H,Missense_R798H,Missense_R807H,Missense_R820H,Missense_R864H exm485244 5 140362125 [G/C] NM_031411,NM_018900,NM_018905,NM_018906,NM_018907,NM_018908,NM_031849,NM_018909,NM_018910,NM_018911,NM_031857,NM_018901,NM_031860,NM_018902,NM_018903,NM_018904,NM_018898,NM_018899 PCDHA1,PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHA10,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHAC1,PCDHAC2 EXON Missense_P576R,Missense_P840R,Missense_P838R,Missense_P840R,Missense_P837R,Missense_P826R,Missense_P576R,Missense_P840R,Missense_P827R,Missense_P840R,Missense_P840R,Missense_P838R,Missense_P575R,Missense_P839R,Missense_P831R,Missense_P840R,Missense_P853R,Missense_P897R exm485258 5 140389500 [T/C] NM_031411,NM_018900,NM_018905,NM_018906,NM_018907,NM_018908,NM_031849,NM_018909,NM_018910,NM_018911,NM_031857,NM_018901,NM_031860,NM_018902,NM_018903,NM_018904,NM_018898,NM_018899 PCDHA1,PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHA10,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHAC1,PCDHAC2 EXON Missense_T680M,Missense_T944M,Missense_T942M,Missense_T944M,Missense_T941M,Missense_T930M,Missense_T680M,Missense_T944M,Missense_T931M,Missense_T944M,Missense_T944M,Missense_T942M,Missense_T679M,Missense_T943M,Missense_T935M,Missense_T944M,Missense_T957M,Missense_T1001M exm485292 5 140431068 [C/G] NM_013340 PCDHB1 EXON Missense_R5G exm485305 5 140431317 [G/C] NM_013340 PCDHB1 EXON Missense_E88Q exm485312 5 140431466 [T/G] NM_013340 PCDHB1 EXON Missense_E137D exm485322 5 140431665 [G/C] NM_013340 PCDHB1 EXON Missense_E204Q exm485327 5 140431878 [A/C] NM_013340 PCDHB1 EXON Missense_K275Q exm485336 5 140432208 [T/C] NM_013340 PCDHB1 EXON Missense_F385L exm485338 5 140432223 [T/C] NM_013340 PCDHB1 EXON Missense_L390F exm485350 5 140432538 [A/G] NM_013340 PCDHB1 EXON Missense_K495E exm485355 5 140432626 [T/C] NM_013340 PCDHB1 EXON Missense_A524V exm485359 5 140432860 [A/G] NM_013340 PCDHB1 EXON Nonsense_W602X exm485371 5 140433190 [T/C] NM_013340 PCDHB1 EXON Missense_I712T exm485372 5 140433211 [T/A] NM_013340 PCDHB1 EXON Missense_K719I exm485374 5 140433285 [T/C] NM_013340 PCDHB1 EXON Nonsense_Q744X exm485375 5 140433306 [T/C] NM_013340 PCDHB1 EXON Missense_R751W exm485377 5 140433357 [T/G] NM_013340 PCDHB1 EXON Missense_F768V exm485378 5 140433360 [T/C] NM_013340 PCDHB1 EXON Missense_R769C exm2089173 5 140433373 [A/G] NM_013340 PCDHB1 EXON Missense_R773H exm485391 5 140474467 [T/G] NM_018936 PCDHB2 EXON Missense_Q31H exm485394 5 140474548 [A/G] NM_018936 PCDHB2 EXON Missense_I58M exm485403 5 140474756 [A/G] NM_018936 PCDHB2 EXON Missense_V128I exm485406 5 140474796 [T/G] NM_018936 PCDHB2 EXON Missense_L141R exm485415 5 140475108 [G/C] NM_018936 PCDHB2 EXON Missense_A245G exm485420 5 140475212 [T/C] NM_018936 PCDHB2 EXON Missense_S280P exm485423 5 140475377 [G/C] NM_018936 PCDHB2 EXON Missense_V335L exm485425 5 140475441 [A/G] NM_018936 PCDHB2 EXON Missense_N356S exm485427 5 140475514 [A/C] NM_018936 PCDHB2 EXON Missense_N380K exm485432 5 140475647 [A/G] NM_018936 PCDHB2 EXON Missense_V425I exm485433 5 140475665 [A/C] NM_018936 PCDHB2 EXON Missense_P431T exm485517 5 140480270 [T/C] NM_018937 PCDHB3 EXON Nonsense_Q13X exm485520 5 140480321 [T/C] NM_018937 PCDHB3 EXON Missense_S30P exm485522 5 140480355 [A/G] NM_018937 PCDHB3 EXON Missense_K41R exm485525 5 140480433 [A/T] NM_018937 PCDHB3 EXON Missense_V67E exm485526 5 140480442 [A/G] NM_018937 PCDHB3 EXON Missense_G70E exm485527 5 140480453 [T/C] NM_018937 PCDHB3 EXON Missense_H74Y exm485528 5 140480475 [T/C] NM_018937 PCDHB3 EXON Missense_T81I exm485529 5 140480485 [T/G] NM_018937 PCDHB3 EXON Missense_L84F exm485533 5 140480598 [A/G] NM_018937 PCDHB3 EXON Missense_R122H exm485535 5 140480616 [A/G] NM_018937 PCDHB3 EXON Missense_D128G exm485536 5 140480658 [T/C] NM_018937 PCDHB3 EXON Missense_I142T exm485537 5 140480682 [T/C] NM_018937 PCDHB3 EXON Missense_T150I exm2241817 5 140480841 [T/A] NM_018937 PCDHB3 EXON Missense_E203V exm485542 5 140480852 [A/G] NM_018937 PCDHB3 EXON Missense_E207K exm485545 5 140480885 [A/G] NM_018937 PCDHB3 EXON Missense_G218S exm485553 5 140481132 [A/G] NM_018937 PCDHB3 EXON Missense_D300G exm485558 5 140481276 [C/G] NM_018937 PCDHB3 EXON Missense_T348S exm485567 5 140481475 [T/A] NM_018937 PCDHB3 EXON Missense_R414S exm485569 5 140481522 [A/G] NM_018937 PCDHB3 EXON Missense_R430K exm485613 5 140482620 [G/C] NM_018937 PCDHB3 EXON Missense_S796T exm485621 5 140501710 [T/G] NM_018938 PCDHB4 EXON Missense_V44L exm485624 5 140501759 [T/C] NM_018938 PCDHB4 EXON Missense_S60F exm485634 5 140502064 [T/G] NM_018938 PCDHB4 EXON Missense_G162C exm485635 5 140502083 [A/G] NM_018938 PCDHB4 EXON Missense_K168R exm485650 5 140502343 [T/C] NM_018938 PCDHB4 EXON Missense_P255S exm485651 5 140502344 [T/C] NM_018938 PCDHB4 EXON Missense_P255L exm485654 5 140502433 [G/C] NM_018938 PCDHB4 EXON Missense_D285H exm485665 5 140502683 [T/G] NM_018938 PCDHB4 EXON Missense_R368L exm485668 5 140502733 [T/C] NM_018938 PCDHB4 EXON Missense_P385S exm485669 5 140502740 [A/C] NM_018938 PCDHB4 EXON Missense_N387T exm485671 5 140502770 [A/G] NM_018938 PCDHB4 EXON Missense_K397R exm485676 5 140502841 [A/G] NM_018938 PCDHB4 EXON Missense_A421T exm485677 5 140502857 [A/G] NM_018938 PCDHB4 EXON Missense_G426E exm2089248 5 140503824 [C/G] NM_018938 PCDHB4 EXON Nonsense_Y748X exm485743 5 140515038 [A/T] NM_015669 PCDHB5 EXON Missense_T8S exm485753 5 140515275 [T/C] NM_015669 PCDHB5 EXON Missense_Y87H exm485755 5 140515342 [T/A] NM_015669 PCDHB5 EXON Nonsense_L109X exm485758 5 140515404 [T/G] NM_015669 PCDHB5 EXON Missense_A130S exm485759 5 140515450 [A/G] NM_015669 PCDHB5 EXON Missense_S145N exm485760 5 140515455 [T/C] NM_015669 PCDHB5 EXON Nonsense_Q147X exm485761 5 140515483 [T/C] NM_015669 PCDHB5 EXON Missense_I156T exm485764 5 140515578 [C/G] NM_015669 PCDHB5 EXON Missense_G188R exm485766 5 140515612 [C/G] NM_015669 PCDHB5 EXON Missense_A199G exm2256974 5 140515946 [A/G] NM_015669 PCDHB5 EXON Synonymous_A310A exm485791 5 140516167 [A/T] NM_015669 PCDHB5 EXON Missense_I384N exm485792 5 140516262 [T/C] NM_015669 PCDHB5 EXON Missense_Y416H exm485870 5 140517313 [T/A] NM_015669 PCDHB5 EXON Missense_L766Q exm2266014 5 140522425 [A/G] exm2089280 5 140529841 [A/G] NM_018939 PCDHB6 EXON Missense_M1I exm485886 5 140529938 [A/G] NM_018939 PCDHB6 EXON Missense_V34I exm485887 5 140529960 [A/G] NM_018939 PCDHB6 EXON Missense_G41D exm485888 5 140529975 [A/G] NM_018939 PCDHB6 EXON Missense_N46S exm485892 5 140530137 [T/C] NM_018939 PCDHB6 EXON Missense_P100L exm485893 5 140530198 [T/G] NM_018939 PCDHB6 EXON Missense_L120F exm485896 5 140530232 [A/T] NM_018939 PCDHB6 EXON Missense_F132I exm485897 5 140530248 [T/C] NM_018939 PCDHB6 EXON Missense_M137T exm485904 5 140530418 [A/G] NM_018939 PCDHB6 EXON Missense_V194M exm485912 5 140530529 [A/G] NM_018939 PCDHB6 EXON Missense_V231I exm485913 5 140530534 [C/G] NM_018939 PCDHB6 EXON Missense_L232F exm485916 5 140530542 [A/G] NM_018939 PCDHB6 EXON Missense_N235S exm485919 5 140530598 [A/C] NM_018939 PCDHB6 EXON Missense_N254H exm485921 5 140530632 [T/C] NM_018939 PCDHB6 EXON Missense_A265V exm485923 5 140530718 [T/G] NM_018939 PCDHB6 EXON Missense_A294S exm2256976 5 140530777 [T/C] NM_018939 PCDHB6 EXON Synonymous_Y313Y exm485930 5 140530877 [T/A] NM_018939 PCDHB6 EXON Missense_M347L exm485937 5 140530986 [T/C] NM_018939 PCDHB6 EXON Missense_I383T exm485940 5 140531060 [A/G] NM_018939 PCDHB6 EXON Missense_D408N exm485945 5 140531091 [T/C] NM_018939 PCDHB6 EXON Missense_T418I exm485947 5 140531099 [A/G] NM_018939 PCDHB6 EXON Missense_V421I exm486025 5 140532165 [A/G] NM_018939 PCDHB6 EXON Missense_G776D exm486038 5 140552585 [C/G] NM_018940 PCDHB7 EXON Missense_G57R exm486045 5 140552711 [A/G] NM_018940 PCDHB7 EXON Missense_R99G exm486046 5 140552718 [T/C] NM_018940 PCDHB7 EXON Missense_P101L exm486048 5 140552774 [A/G] NM_018940 PCDHB7 EXON Missense_E120K exm486053 5 140552874 [T/G] NM_018940 PCDHB7 EXON Missense_L153R exm486056 5 140552966 [A/G] NM_018940 PCDHB7 EXON Missense_D184N exm486057 5 140552975 [A/G] NM_018940 PCDHB7 EXON Missense_E187K exm486059 5 140553017 [T/G] NM_018940 PCDHB7 EXON Missense_D201Y exm486076 5 140553483 [T/C] NM_018940 PCDHB7 EXON Missense_I356T exm486077 5 140553500 [T/G] NM_018940 PCDHB7 EXON Nonsense_E362X exm486081 5 140553551 [A/G] NM_018940 PCDHB7 EXON Missense_G379R exm486084 5 140553581 [C/G] NM_018940 PCDHB7 EXON Missense_V389L exm486091 5 140553657 [A/G] NM_018940 PCDHB7 EXON Missense_N414S exm486092 5 140553663 [A/C] NM_018940 PCDHB7 EXON Missense_E416A exm486189 5 140554769 [A/C] NM_018940 PCDHB7 EXON Missense_R785S exm486205 5 140558064 [A/G] NM_019120 PCDHB8 EXON Missense_G150E exm486235 5 140558364 [T/C] NM_019120 PCDHB8 EXON Missense_V250A exm486238 5 140558384 [T/C] NM_019120 PCDHB8 EXON Missense_P257S exm486246 5 140558528 [A/G] NM_019120 PCDHB8 EXON Missense_K305E exm486251 5 140558580 [T/C] NM_019120 PCDHB8 EXON Missense_A322V exm2089346 5 140558613 [T/C] NM_019120 PCDHB8 EXON Missense_T333I exm486256 5 140558618 [A/C] NM_019120 PCDHB8 EXON Missense_L335M exm486359 5 140559849 [A/G] NM_019120 PCDHB8 EXON Missense_S745N exm486363 5 140559891 [T/G] NM_019120 PCDHB8 EXON Missense_G759V exm486364 5 140559914 [T/C] NM_019120 PCDHB8 EXON Missense_F767L exm486379 5 140562304 [T/C] NM_020957 PCDHB16 EXON Missense_T57I exm486386 5 140562407 [T/G] NM_020957 PCDHB16 EXON Missense_D91E exm486388 5 140562562 [A/C] NM_020957 PCDHB16 EXON Missense_P143Q exm486390 5 140562634 [T/C] NM_020957 PCDHB16 EXON Missense_V167A exm486396 5 140562739 [A/G] NM_020957 PCDHB16 EXON Missense_R202Q exm486397 5 140562756 [G/C] NM_020957 PCDHB16 EXON Missense_L208V exm486399 5 140562775 [T/C] NM_020957 PCDHB16 EXON Missense_A214V exm486400 5 140562796 [A/C] NM_020957 PCDHB16 EXON Missense_P221Q exm486412 5 140563035 [G/C] NM_020957 PCDHB16 EXON Missense_V301L exm2089378 5 140563152 [A/G] NM_020957 PCDHB16 EXON Missense_V340M exm486414 5 140563158 [C/G] NM_020957 PCDHB16 EXON Missense_D342H exm486415 5 140563173 [T/G] NM_020957 PCDHB16 EXON Missense_V347L exm2241838 5 140563203 [T/C] NM_020957 PCDHB16 EXON Missense_P357S exm486419 5 140563280 [T/G] NM_020957 PCDHB16 EXON Missense_I382M exm486424 5 140563377 [C/G] NM_020957 PCDHB16 EXON Missense_A415P exm486523 5 140567264 [T/G] NM_019119 PCDHB9 EXON Missense_R124S exm486531 5 140567412 [T/C] NM_019119 PCDHB9 EXON Missense_S174P exm2256981 5 140567477 [T/G] NM_019119 PCDHB9 EXON Synonymous_V195V exm486548 5 140567608 [T/C] NM_019119 PCDHB9 EXON Missense_A239V exm2241843 5 140567784 [T/C] NM_019119 PCDHB9 EXON Missense_S298P exm486556 5 140567950 [T/C] NM_019119 PCDHB9 EXON Missense_S353F exm486557 5 140567973 [T/C] NM_019119 PCDHB9 EXON Missense_P361S exm486564 5 140568114 [A/C] NM_019119 PCDHB9 EXON Missense_H408N exm486567 5 140568151 [T/C] NM_019119 PCDHB9 EXON Missense_P420L exm486568 5 140568156 [A/C] NM_019119 PCDHB9 EXON Missense_P422T exm2241845 5 140572156 [T/C] NM_018930 PCDHB10 EXON Nonsense_Q11X exm486655 5 140572513 [T/G] NM_018930 PCDHB10 EXON Missense_A130S exm2241848 5 140572600 [A/G] NM_018930 PCDHB10 EXON Missense_D159N exm486669 5 140572737 [A/G] NM_018930 PCDHB10 EXON Synonymous_E204E exm486681 5 140572832 [A/G] NM_018930 PCDHB10 EXON Missense_N236S exm486682 5 140572841 [T/C] NM_018930 PCDHB10 EXON Missense_A239V exm486689 5 140572969 [A/T] NM_018930 PCDHB10 EXON Missense_F282I exm486690 5 140572970 [T/C] NM_018930 PCDHB10 EXON Missense_F282S exm486691 5 140572988 [T/C] NM_018930 PCDHB10 EXON Missense_I288T exm486699 5 140573211 [A/G] NM_018930 PCDHB10 EXON Synonymous_E362E exm2256982 5 140573211 [A/G] NM_018930 PCDHB10 EXON Synonymous_E362E exm486702 5 140573238 [A/T] NM_018930 PCDHB10 EXON Missense_N371K exm486708 5 140573335 [A/C] NM_018930 PCDHB10 EXON Missense_I404L exm486709 5 140573348 [T/C] NM_018930 PCDHB10 EXON Missense_A408V exm486711 5 140573366 [A/G] NM_018930 PCDHB10 EXON Missense_R414K exm486791 5 140574374 [A/G] NM_018930 PCDHB10 EXON Missense_S750N exm486792 5 140574378 [A/C] NM_018930 PCDHB10 EXON Nonsense_Y751X exm486795 5 140574442 [A/G] NM_018930 PCDHB10 EXON Missense_I773V exm486801 5 140579358 [A/G] NM_018931 PCDHB11 EXON Missense_Q4R exm486805 5 140579453 [A/G] NM_018931 PCDHB11 EXON Missense_A36T exm486809 5 140579498 [A/G] NM_018931 PCDHB11 EXON Missense_D51N exm486810 5 140579514 [T/A] NM_018931 PCDHB11 EXON Missense_V56E exm2089432 5 140579537 [A/G] NM_018931 PCDHB11 EXON Missense_A64T exm486813 5 140579550 [T/C] NM_018931 PCDHB11 EXON Missense_S68F exm486815 5 140579574 [A/G] NM_018931 PCDHB11 EXON Missense_Q76R exm486825 5 140579834 [A/G] NM_018931 PCDHB11 EXON Missense_G163R exm2089437 5 140579884 [G/C] NM_018931 PCDHB11 EXON Missense_H179Q exm486827 5 140579889 [A/C] NM_018931 PCDHB11 EXON Missense_K181T exm486831 5 140579929 [A/C] NM_018931 PCDHB11 EXON Missense_L194F exm486846 5 140580234 [A/G] NM_018931 PCDHB11 EXON Missense_Q296R exm2241854 5 140580247 [A/C] NM_018931 PCDHB11 EXON Missense_E300D exm2241855 5 140580258 [C/G] NM_018931 PCDHB11 EXON Missense_R304T exm486860 5 140580548 [T/C] NM_018931 PCDHB11 EXON Missense_Y401H exm486868 5 140580692 [G/C] NM_018931 PCDHB11 EXON Missense_P449A exm486869 5 140580701 [A/T] NM_018931 PCDHB11 EXON Missense_T452S exm2089467 5 140588502 [A/C] NM_018932 PCDHB12 EXON Missense_T8N exm486969 5 140588801 [T/G] NM_018932 PCDHB12 EXON Missense_V108L exm2089471 5 140588810 [T/A] NM_018932 PCDHB12 EXON Nonsense_K111X exm486972 5 140588855 [A/G] NM_018932 PCDHB12 EXON Missense_I126V exm486975 5 140588918 [T/C] NM_018932 PCDHB12 EXON Missense_P147S exm486976 5 140589016 [A/C] NM_018932 PCDHB12 EXON Missense_H179Q exm486988 5 140589192 [A/G] NM_018932 PCDHB12 EXON Missense_N238S exm486990 5 140589234 [T/G] NM_018932 PCDHB12 EXON Missense_L252R exm486994 5 140589294 [T/G] NM_018932 PCDHB12 EXON Missense_G272V exm486995 5 140589300 [A/G] NM_018932 PCDHB12 EXON Missense_N274S exm487004 5 140589414 [T/C] NM_018932 PCDHB12 EXON Missense_I312T exm487005 5 140589416 [A/G] NM_018932 PCDHB12 EXON Missense_E313K exm2089477 5 140589449 [A/G] NM_018932 PCDHB12 EXON Missense_G324R exm487016 5 140589614 [G/C] NM_018932 PCDHB12 EXON Missense_G379R exm487020 5 140589666 [T/C] NM_018932 PCDHB12 EXON Missense_S396L exm487021 5 140589681 [A/G] NM_018932 PCDHB12 EXON Missense_Y401C exm487025 5 140589738 [T/C] NM_018932 PCDHB12 EXON Missense_T420I exm487108 5 140590728 [A/G] NM_018932 PCDHB12 EXON Missense_H750R exm487112 5 140590766 [A/G] NM_018932 PCDHB12 EXON Missense_K763E exm487135 5 140594389 [G/C] NM_018933 PCDHB13 EXON Missense_E232Q exm487138 5 140594467 [A/G] NM_018933 PCDHB13 EXON Missense_V258I exm487139 5 140594470 [A/G] NM_018933 PCDHB13 EXON Missense_G259S exm2256983 5 140594580 [T/C] NM_018933 PCDHB13 EXON Synonymous_I295I exm487146 5 140594651 [A/G] NM_018933 PCDHB13 EXON Missense_N319S exm487148 5 140594675 [A/C] NM_018933 PCDHB13 EXON Missense_T327N exm2089523 5 140595001 [A/G] NM_018933 PCDHB13 EXON Missense_N436D exm487235 5 140595905 [A/T] NM_018933 PCDHB13 EXON Missense_V737E exm487244 5 140596018 [A/C] NM_018933 PCDHB13 EXON Missense_P775T exm487245 5 140596039 [T/G] NM_018933 PCDHB13 EXON Nonsense_E782X exm487247 5 140596092 [A/G] NM_018933 PCDHB13 EXON Missense_X799W exm2274098 5 140603370 [A/C] NM_018934 PCDHB14 EXON Missense_S98Y exm487264 5 140603373 [A/C] NM_018934 PCDHB14 EXON Missense_T99N exm487265 5 140603384 [A/G] NM_018934 PCDHB14 EXON Missense_V103M exm2089555 5 140603480 [A/G] NM_018934 PCDHB14 EXON Missense_D135N exm487272 5 140603528 [A/G] NM_018934 PCDHB14 EXON Missense_T151A exm487274 5 140603601 [A/G] NM_018934 PCDHB14 EXON Missense_N175S exm487275 5 140603648 [T/C] NM_018934 PCDHB14 EXON Missense_Y191H exm487284 5 140603855 [T/C] NM_018934 PCDHB14 EXON Missense_W260R exm487286 5 140603921 [T/C] NM_018934 PCDHB14 EXON Missense_F282L exm487290 5 140603973 [A/G] NM_018934 PCDHB14 EXON Missense_G299E exm487292 5 140604011 [A/T] NM_018934 PCDHB14 EXON Missense_I312L exm2089558 5 140604027 [T/C] NM_018934 PCDHB14 EXON Missense_I317T exm487296 5 140604086 [A/G] NM_018934 PCDHB14 EXON Missense_V337I exm487299 5 140604213 [A/G] NM_018934 PCDHB14 EXON Missense_G379E exm487402 5 140625171 [T/C] NM_018935 PCDHB15 EXON Missense_P9S exm487406 5 140625318 [A/G] NM_018935 PCDHB15 EXON Missense_E58K exm2089593 5 140625340 [A/G] NM_018935 PCDHB15 EXON Missense_R65Q exm487410 5 140625429 [A/C] NM_018935 PCDHB15 EXON Missense_L95M exm487418 5 140625603 [T/C] NM_018935 PCDHB15 EXON Missense_P153S exm487422 5 140625664 [A/C] NM_018935 PCDHB15 EXON Missense_S173Y exm487441 5 140626117 [C/G] NM_018935 PCDHB15 EXON Missense_G324A exm2089629 5 140627397 [T/C] NM_018935 PCDHB15 EXON Missense_Y751H exm487538 5 140627473 [A/G] NM_018935 PCDHB15 EXON Missense_S776N exm2275372 5 140682655 [A/C] NM_031947 SLC25A2 EXON Nonsense_E260X exm487549 5 140682757 [T/C] NM_031947 SLC25A2 EXON Missense_V226I exm487552 5 140682787 [T/C] NM_031947 SLC25A2 EXON Missense_G216S exm487556 5 140682891 [A/C] NM_031947 SLC25A2 EXON Missense_V181G exm487558 5 140682958 [A/C] NM_031947 SLC25A2 EXON Missense_G159C exm487559 5 140682993 [A/G] NM_031947 SLC25A2 EXON Missense_A147V exm487560 5 140683013 [T/C] NM_031947 SLC25A2 EXON Missense_M140I exm487562 5 140683081 [T/C] NM_031947 SLC25A2 EXON Missense_A118T exm2241866 5 140683227 [A/G] NM_031947 SLC25A2 EXON Missense_P69L exm487572 5 140683242 [T/C] NM_031947 SLC25A2 EXON Missense_Y64C exm2089645 5 140683320 [T/G] NM_031947 SLC25A2 EXON Missense_Q38P exm487589 5 140698752 [T/C] NM_005642 TAF7 EXON Missense_N287S exm487595 5 140698884 [T/C] NM_005642 TAF7 EXON Missense_D243G exm487604 5 140699219 [G/C] NM_005642 TAF7 EXON Missense_I131M exm487612 5 140699512 [A/C] NM_005642 TAF7 EXON Missense_S34A exm487616 5 140710264 [A/G] NM_018912,NM_031993 PCDHGA1,PCDHGA1 EXON Missense_K5E,Missense_K5E exm487630 5 140710543 [G/C] NM_018912,NM_031993 PCDHGA1,PCDHGA1 EXON Missense_Q98E,Missense_Q98E exm487634 5 140710705 [A/G] NM_018912,NM_031993 PCDHGA1,PCDHGA1 EXON Missense_V152I,Missense_V152I exm487638 5 140710778 [T/C] NM_018912,NM_031993 PCDHGA1,PCDHGA1 EXON Missense_P176L,Missense_P176L exm487639 5 140710810 [A/G] NM_018912,NM_031993 PCDHGA1,PCDHGA1 EXON Missense_D187N,Missense_D187N exm487641 5 140710832 [T/C] NM_018912,NM_031993 PCDHGA1,PCDHGA1 EXON Missense_M194T,Missense_M194T exm487646 5 140710939 [A/G] NM_018912,NM_031993 PCDHGA1,PCDHGA1 EXON Missense_I230V,Missense_I230V exm487649 5 140710994 [A/C] NM_018912,NM_031993 PCDHGA1,PCDHGA1 EXON Missense_H248P,Missense_H248P exm487653 5 140711059 [A/G] NM_018912,NM_031993 PCDHGA1,PCDHGA1 EXON Missense_D270N,Missense_D270N exm487657 5 140711097 [G/C] NM_018912,NM_031993 PCDHGA1,PCDHGA1 EXON Missense_H282Q,Missense_H282Q exm2241867 5 140711120 [A/G] NM_018912,NM_031993 PCDHGA1,PCDHGA1 EXON Missense_Q290R,Missense_Q290R exm2256986 5 140711595 [T/C] NM_018912,NM_031993 PCDHGA1,PCDHGA1 EXON Synonymous_N448N,Synonymous_N448N exm487675 5 140711630 [A/G] NM_018912,NM_031993 PCDHGA1,PCDHGA1 EXON Missense_Y460C,Missense_Y460C exm487728 5 140712586 [T/C] NM_018912,NM_031993 PCDHGA1,PCDHGA1 EXON Missense_L779F,Missense_L779F exm487729 5 140712616 [A/G] NM_018912,NM_031993 PCDHGA1,PCDHGA1 EXON Missense_G789S,Missense_G789S exm487731 5 140718552 [A/G] NM_018912,NM_032009,NM_018915 PCDHGA1,PCDHGA2,PCDHGA2 EXON Silent,Missense_Q5R,Missense_Q5R exm487734 5 140718566 [T/C] NM_018912,NM_032009,NM_018915 PCDHGA1,PCDHGA2,PCDHGA2 EXON Silent,Missense_C10R,Missense_C10R exm487746 5 140718897 [A/G] NM_018912,NM_032009,NM_018915 PCDHGA1,PCDHGA2,PCDHGA2 EXON Silent,Missense_E120G,Missense_E120G exm487747 5 140718936 [T/C] NM_018912,NM_032009,NM_018915 PCDHGA1,PCDHGA2,PCDHGA2 EXON Silent,Missense_F133S,Missense_F133S exm487750 5 140718994 [T/G] NM_018912,NM_032009,NM_018915 PCDHGA1,PCDHGA2,PCDHGA2 EXON Silent,Missense_I152M,Missense_I152M exm487761 5 140719224 [A/G] NM_018912,NM_032009,NM_018915 PCDHGA1,PCDHGA2,PCDHGA2 EXON Silent,Missense_C229Y,Missense_C229Y exm487762 5 140719230 [A/G] NM_018912,NM_032009,NM_018915 PCDHGA1,PCDHGA2,PCDHGA2 EXON Silent,Missense_K231R,Missense_K231R exm487763 5 140719283 [T/A] NM_018912,NM_032009,NM_018915 PCDHGA1,PCDHGA2,PCDHGA2 EXON Silent,Missense_I249L,Missense_I249L exm487764 5 140719287 [A/G] NM_018912,NM_032009,NM_018915 PCDHGA1,PCDHGA2,PCDHGA2 EXON Silent,Missense_S250N,Missense_S250N exm487765 5 140719316 [G/C] NM_018912,NM_032009,NM_018915 PCDHGA1,PCDHGA2,PCDHGA2 EXON Silent,Missense_R260G,Missense_R260G exm487766 5 140719317 [A/G] NM_018912,NM_032009,NM_018915 PCDHGA1,PCDHGA2,PCDHGA2 EXON Silent,Missense_R260Q,Missense_R260Q exm487767 5 140719331 [A/G] NM_018912,NM_032009,NM_018915 PCDHGA1,PCDHGA2,PCDHGA2 EXON Silent,Missense_T265A,Missense_T265A exm487772 5 140719478 [T/C] NM_018912,NM_032009,NM_018915 PCDHGA1,PCDHGA2,PCDHGA2 EXON Silent,Missense_F314L,Missense_F314L exm487774 5 140719512 [T/C] NM_018912,NM_032009,NM_018915 PCDHGA1,PCDHGA2,PCDHGA2 EXON Silent,Missense_P325L,Missense_P325L exm487779 5 140719556 [A/G] NM_018912,NM_032009,NM_018915 PCDHGA1,PCDHGA2,PCDHGA2 EXON Silent,Missense_V340M,Missense_V340M exm487781 5 140719598 [A/G] NM_018912,NM_032009,NM_018915 PCDHGA1,PCDHGA2,PCDHGA2 EXON Silent,Missense_S354G,Missense_S354G exm487783 5 140719633 [A/G] NM_018912,NM_032009,NM_018915 PCDHGA1,PCDHGA2,PCDHGA2 EXON Silent,Missense_I365M,Missense_I365M exm487788 5 140719796 [A/G] NM_018912,NM_032009,NM_018915 PCDHGA1,PCDHGA2,PCDHGA2 EXON Silent,Missense_I420V,Missense_I420V exm487789 5 140719824 [A/T] NM_018912,NM_032009,NM_018915 PCDHGA1,PCDHGA2,PCDHGA2 EXON Silent,Missense_N429I,Missense_N429I exm487794 5 140719898 [T/C] NM_018912,NM_032009,NM_018915 PCDHGA1,PCDHGA2,PCDHGA2 EXON Silent,Missense_R454C,Missense_R454C exm487803 5 140720030 [C/G] NM_018912,NM_032009,NM_018915 PCDHGA1,PCDHGA2,PCDHGA2 EXON Silent,Missense_G498R,Missense_G498R exm487807 5 140720103 [A/T] NM_018912,NM_032009,NM_018915 PCDHGA1,PCDHGA2,PCDHGA2 EXON Silent,Missense_Y522F,Missense_Y522F exm487808 5 140720110 [T/G] NM_018912,NM_032009,NM_018915 PCDHGA1,PCDHGA2,PCDHGA2 EXON Silent,Missense_Q524H,Missense_Q524H exm487812 5 140720144 [T/G] NM_018912,NM_032009,NM_018915 PCDHGA1,PCDHGA2,PCDHGA2 EXON Silent,Missense_D536Y,Missense_D536Y exm487858 5 140720766 [T/C] NM_018912,NM_032009,NM_018915 PCDHGA1,PCDHGA2,PCDHGA2 EXON Silent,Missense_V743A,Missense_V743A exm487863 5 140720954 [T/C] NM_018912,NM_032009,NM_018915 PCDHGA1,PCDHGA2,PCDHGA2 EXON Silent,Missense_F806L,Missense_F806L exm487872 5 140723672 [A/C] NM_018912,NM_018915,NM_032011,NM_018916 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGA3 EXON Silent,Silent,Nonsense_C24X,Nonsense_C24X exm487878 5 140723820 [G/C] NM_018912,NM_018915,NM_032011,NM_018916 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGA3 EXON Silent,Silent,Missense_L74V,Missense_L74V exm487889 5 140724060 [A/C] NM_018912,NM_018915,NM_032011,NM_018916 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGA3 EXON Silent,Silent,Missense_I154L,Missense_I154L exm487898 5 140724259 [G/C] NM_018912,NM_018915,NM_032011,NM_018916 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGA3 EXON Silent,Silent,Missense_P220R,Missense_P220R exm487907 5 140724591 [T/G] NM_018912,NM_018915,NM_032011,NM_018916 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGA3 EXON Silent,Silent,Missense_A331S,Missense_A331S exm487909 5 140724604 [T/C] NM_018912,NM_018915,NM_032011,NM_018916 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGA3 EXON Silent,Silent,Missense_V335A,Missense_V335A exm2089702 5 140724649 [T/C] NM_018912,NM_018915,NM_032011,NM_018916 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGA3 EXON Silent,Silent,Missense_T350M,Missense_T350M exm487919 5 140724879 [A/G] NM_018912,NM_018915,NM_032011,NM_018916 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGA3 EXON Silent,Silent,Missense_G427R,Missense_G427R exm2256987 5 140724896 [C/G] NM_018912,NM_018915,NM_032011,NM_018916 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGA3 EXON Silent,Silent,Synonymous_L432L,Synonymous_L432L exm487921 5 140724896 [C/G] NM_018912,NM_018915,NM_032011,NM_018916 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGA3 EXON Silent,Silent,Synonymous_L432L,Synonymous_L432L exm487928 5 140724990 [A/G] NM_018912,NM_018915,NM_032011,NM_018916 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGA3 EXON Silent,Silent,Missense_N464D,Missense_N464D exm487929 5 140725011 [A/G] NM_018912,NM_018915,NM_032011,NM_018916 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGA3 EXON Silent,Silent,Missense_I471V,Missense_I471V exm487933 5 140725033 [A/T] NM_018912,NM_018915,NM_032011,NM_018916 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGA3 EXON Silent,Silent,Missense_D478V,Missense_D478V exm487939 5 140725218 [T/C] NM_018912,NM_018915,NM_032011,NM_018916 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGA3 EXON Silent,Silent,Missense_P540S,Missense_P540S exm487971 5 140725923 [T/C] NM_018912,NM_018915,NM_032011,NM_018916 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGA3 EXON Silent,Silent,Missense_Y775H,Missense_Y775H exm487978 5 140726055 [A/C] NM_018912,NM_018915,NM_032011,NM_018916 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGA3 EXON Silent,Silent,Missense_N819H,Silent exm487980 5 140729849 [A/G] NM_018912,NM_018915,NM_018916,NM_018922,NM_032095 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGB1 EXON Silent,Silent,Silent,Missense_E8K,Missense_E8K exm487989 5 140730210 [T/C] NM_018912,NM_018915,NM_018916,NM_018922,NM_032095 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGB1 EXON Silent,Silent,Silent,Missense_P128L,Missense_P128L exm487999 5 140730384 [T/G] NM_018912,NM_018915,NM_018916,NM_018922,NM_032095 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGB1 EXON Silent,Silent,Silent,Missense_S186I,Missense_S186I exm488007 5 140730489 [A/G] NM_018912,NM_018915,NM_018916,NM_018922,NM_032095 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGB1 EXON Silent,Silent,Silent,Missense_G221D,Missense_G221D exm488026 5 140731022 [A/G] NM_018912,NM_018915,NM_018916,NM_018922,NM_032095 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGB1 EXON Silent,Silent,Silent,Missense_K399E,Missense_K399E exm488029 5 140731059 [A/C] NM_018912,NM_018915,NM_018916,NM_018922,NM_032095 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGB1 EXON Silent,Silent,Silent,Missense_T411K,Missense_T411K exm488031 5 140731125 [A/G] NM_018912,NM_018915,NM_018916,NM_018922,NM_032095 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGB1 EXON Silent,Silent,Silent,Missense_S433N,Missense_S433N exm488073 5 140731989 [T/G] NM_018912,NM_018915,NM_018916,NM_018922,NM_032095 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGB1 EXON Silent,Silent,Silent,Missense_G721V,Missense_G721V exm488077 5 140732103 [A/C] NM_018912,NM_018915,NM_018916,NM_018922,NM_032095 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGB1 EXON Silent,Silent,Silent,Missense_T759K,Missense_T759K exm488079 5 140732121 [A/C] NM_018912,NM_018915,NM_018916,NM_018922,NM_032095 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGB1 EXON Silent,Silent,Silent,Missense_N765T,Missense_N765T exm488082 5 140732192 [A/C] NM_018912,NM_018915,NM_018916,NM_018922,NM_032095 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGB1 EXON Silent,Silent,Silent,Missense_N789H,Missense_N789H exm488083 5 140732210 [A/G] NM_018912,NM_018915,NM_018916,NM_018922,NM_032095 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGB1 EXON Silent,Silent,Silent,Missense_A795T,Missense_A795T exm488084 5 140732220 [A/C] NM_018912,NM_018915,NM_018916,NM_018922,NM_032095 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGB1 EXON Silent,Silent,Silent,Missense_P798H,Missense_P798H exm488092 5 140734802 [G/C] NM_018912,NM_018915,NM_018916,NM_018922,NM_032053,NM_018917 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGA4 EXON Silent,Silent,Silent,Silent,Missense_R12P,Missense_R12P exm488094 5 140734807 [T/C] NM_018912,NM_018915,NM_018916,NM_018922,NM_032053,NM_018917 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGA4 EXON Silent,Silent,Silent,Silent,Missense_L14F,Missense_L14F exm488095 5 140734811 [A/G] NM_018912,NM_018915,NM_018916,NM_018922,NM_032053,NM_018917 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGA4 EXON Silent,Silent,Silent,Silent,Missense_Q15R,Missense_Q15R exm488096 5 140734831 [T/G] NM_018912,NM_018915,NM_018916,NM_018922,NM_032053,NM_018917 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGA4 EXON Silent,Silent,Silent,Silent,Missense_V22F,Missense_V22F exm2256988 5 140735083 [T/C] NM_018912,NM_018915,NM_018916,NM_018922,NM_032053,NM_018917 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGA4 EXON Silent,Silent,Silent,Silent,Synonymous_L106L,Synonymous_L106L exm488114 5 140735215 [A/G] NM_018912,NM_018915,NM_018916,NM_018922,NM_032053,NM_018917 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGA4 EXON Silent,Silent,Silent,Silent,Missense_A150T,Missense_A150T exm488115 5 140735221 [T/C] NM_018912,NM_018915,NM_018916,NM_018922,NM_032053,NM_018917 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGA4 EXON Silent,Silent,Silent,Silent,Missense_F152L,Missense_F152L exm488117 5 140735336 [A/C] NM_018912,NM_018915,NM_018916,NM_018922,NM_032053,NM_018917 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGA4 EXON Silent,Silent,Silent,Silent,Missense_K190T,Missense_K190T exm488118 5 140735405 [A/C] NM_018912,NM_018915,NM_018916,NM_018922,NM_032053,NM_018917 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGA4 EXON Silent,Silent,Silent,Silent,Missense_T213K,Missense_T213K exm488121 5 140735499 [T/G] NM_018912,NM_018915,NM_018916,NM_018922,NM_032053,NM_018917 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGA4 EXON Silent,Silent,Silent,Silent,Missense_Q244H,Missense_Q244H exm488139 5 140736146 [A/G] NM_018912,NM_018915,NM_018916,NM_018922,NM_032053,NM_018917 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGA4 EXON Silent,Silent,Silent,Silent,Missense_Y460C,Missense_Y460C exm488145 5 140736287 [A/T] NM_018912,NM_018915,NM_018916,NM_018922,NM_032053,NM_018917 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGA4 EXON Silent,Silent,Silent,Silent,Missense_I507N,Missense_I507N exm488155 5 140736554 [A/G] NM_018912,NM_018915,NM_018916,NM_018922,NM_032053,NM_018917 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGA4 EXON Silent,Silent,Silent,Silent,Missense_R596K,Missense_R596K exm488164 5 140736814 [C/G] NM_018912,NM_018915,NM_018916,NM_018922,NM_032053,NM_018917 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGA4 EXON Silent,Silent,Silent,Silent,Missense_D683H,Missense_D683H exm488185 5 140739737 [G/C] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_032096,NM_018923 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGB2 EXON Silent,Silent,Silent,Silent,Silent,Missense_R12P,Missense_R12P exm488188 5 140739779 [C/G] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_032096,NM_018923 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGB2 EXON Silent,Silent,Silent,Silent,Silent,Missense_P26R,Missense_P26R exm488190 5 140739812 [T/C] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_032096,NM_018923 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGB2 EXON Silent,Silent,Silent,Silent,Silent,Missense_I37T,Missense_I37T exm488195 5 140739874 [A/G] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_032096,NM_018923 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGB2 EXON Silent,Silent,Silent,Silent,Silent,Missense_V58I,Missense_V58I exm488197 5 140739898 [G/C] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_032096,NM_018923 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGB2 EXON Silent,Silent,Silent,Silent,Silent,Missense_L66V,Missense_L66V exm488204 5 140740021 [A/G] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_032096,NM_018923 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGB2 EXON Silent,Silent,Silent,Silent,Silent,Missense_D107N,Missense_D107N exm488205 5 140740060 [A/G] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_032096,NM_018923 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGB2 EXON Silent,Silent,Silent,Silent,Silent,Missense_A120T,Missense_A120T exm488207 5 140740079 [T/C] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_032096,NM_018923 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGB2 EXON Silent,Silent,Silent,Silent,Silent,Missense_I126T,Missense_I126T exm488212 5 140740132 [A/G] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_032096,NM_018923 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGB2 EXON Silent,Silent,Silent,Silent,Silent,Missense_E144K,Missense_E144K exm488233 5 140740910 [A/G] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_032096,NM_018923 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGB2 EXON Silent,Silent,Silent,Silent,Silent,Missense_K403R,Missense_K403R exm488234 5 140740918 [A/T] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_032096,NM_018923 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGB2 EXON Silent,Silent,Silent,Silent,Silent,Missense_T406S,Missense_T406S exm488252 5 140741245 [T/C] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_032096,NM_018923 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGB2 EXON Silent,Silent,Silent,Silent,Silent,Missense_F515L,Missense_F515L exm488270 5 140741738 [G/C] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_032096,NM_018923 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGB2 EXON Silent,Silent,Silent,Silent,Silent,Missense_R679P,Missense_R679P exm488287 5 140742092 [T/G] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_032096,NM_018923 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGB2 EXON Silent,Silent,Silent,Silent,Silent,Missense_G797V,Missense_G797V exm488294 5 140744055 [A/G] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_032054 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGA5 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_G53E,Missense_G53E exm2241877 5 140744308 [G/C] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_032054 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGA5 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_E137D,Missense_E137D exm2241878 5 140744357 [T/C] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_032054 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGA5 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_L154F,Missense_L154F exm488306 5 140744421 [A/G] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_032054 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGA5 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_N175S,Missense_N175S exm488311 5 140744462 [T/C] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_032054 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGA5 EXON Silent,Silent,Silent,Silent,Silent,Silent,Nonsense_Q189X,Nonsense_Q189X exm488312 5 140744465 [A/T] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_032054 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGA5 EXON Silent,Silent,Silent,Silent,Silent,Silent,Nonsense_K190X,Nonsense_K190X exm488319 5 140744609 [T/A] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_032054 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGA5 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_N238Y,Missense_N238Y exm488323 5 140744651 [C/G] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_032054 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGA5 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_P252A,Missense_P252A exm488325 5 140744734 [A/C] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_032054 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGA5 EXON Silent,Silent,Silent,Silent,Silent,Silent,Nonsense_Y279X,Nonsense_Y279X exm488327 5 140744841 [A/G] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_032054 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGA5 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_Y315C,Missense_Y315C exm2089766 5 140744990 [A/G] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_032054 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGA5 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_V365I,Missense_V365I exm488330 5 140744997 [T/C] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_032054 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGA5 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_A367V,Missense_A367V exm2241879 5 140745018 [A/G] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_032054 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGA5 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_G374D,Missense_G374D exm488335 5 140745129 [A/C] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_032054 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGA5 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_D411A,Missense_D411A exm488340 5 140745224 [A/G] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_032054 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGA5 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_A443T,Missense_A443T exm488345 5 140745333 [T/C] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_032054 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGA5 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_P479L,Missense_P479L exm488356 5 140745537 [T/C] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_032054 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGA5 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_S547L,Missense_S547L exm488376 5 140746004 [A/G] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_032054 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGA5 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_V703I,Missense_V703I exm488389 5 140746239 [A/G] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_032054 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGA5 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_S781N,Missense_S781N exm488394 5 140749984 [A/G] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_032097 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGB3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_R8K,Missense_R8K exm488398 5 140750020 [A/T] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_032097 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGB3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_F20Y,Missense_F20Y exm2241881 5 140750039 [A/C] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_032097 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGB3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_D26E,Missense_D26E exm488400 5 140750044 [T/C] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_032097 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGB3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_V28A,Missense_V28A exm488401 5 140750227 [T/G] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_032097 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGB3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_R89L,Missense_R89L exm488406 5 140750296 [A/T] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_032097 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGB3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_K112M,Missense_K112M exm488413 5 140750439 [T/C] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_032097 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGB3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_P160S,Missense_P160S exm488416 5 140750460 [G/C] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_032097 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGB3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_L167V,Missense_L167V exm488419 5 140750550 [A/G] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_032097 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGB3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_K197E,Missense_K197E exm488425 5 140750674 [A/G] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_032097 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGB3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_N238S,Missense_N238S exm488426 5 140750710 [A/G] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_032097 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGB3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_N250S,Missense_N250S exm488427 5 140750712 [A/G] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_032097 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGB3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_V251I,Missense_V251I exm488434 5 140750849 [T/G] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_032097 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGB3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_S296R,Missense_S296R exm488435 5 140750868 [A/G] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_032097 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGB3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_T303A,Missense_T303A exm488437 5 140750900 [T/G] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_032097 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGB3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_D313E,Missense_D313E exm488440 5 140750939 [A/T] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_032097 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGB3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_H326Q,Missense_H326Q exm488444 5 140751096 [A/G] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_032097 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGB3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_N379D,Missense_N379D exm488445 5 140751128 [C/G] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_032097 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGB3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_N389K,Missense_N389K exm488447 5 140751144 [A/G] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_032097 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGB3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_V395I,Missense_V395I exm488466 5 140751669 [A/G] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_032097 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGB3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_E570K,Missense_E570K exm488467 5 140751696 [A/C] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_032097 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGB3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_P579T,Missense_P579T exm2256989 5 140751698 [A/G] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_032097 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGB3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Synonymous_P579P,Synonymous_P579P exm488484 5 140752104 [A/C] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_032097 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGB3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_L715M,Missense_L715M exm488489 5 140752321 [A/G] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_032097 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGB3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Nonsense_W787X,Nonsense_W787X exm488493 5 140753706 [T/C] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_032086 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA6 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_L19P,Missense_L19P exm488505 5 140753927 [A/G] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_032086 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA6 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_E93K,Missense_E93K exm488507 5 140753970 [A/G] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_032086 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA6 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_N107S,Missense_N107S exm488520 5 140754392 [A/C] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_032086 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA6 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_R248S,Missense_R248S exm488538 5 140754978 [T/C] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_032086 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA6 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_A443V,Missense_A443V exm488596 5 140755901 [A/C] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_032086 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA6 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_Q751K,Missense_Q751K exm488598 5 140755929 [C/G] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_032086 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA6 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_T760S,Missense_T760S exm488605 5 140756097 [T/G] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_032086 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA6 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_R816L exm488610 5 140762520 [C/G] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_032087 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGA7 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_I18M,Missense_I18M exm488612 5 140762527 [C/G] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_032087 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGA7 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_G21R,Missense_G21R exm488613 5 140762533 [A/C] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_032087 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGA7 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_P23T,Missense_P23T exm488614 5 140762554 [A/C] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_032087 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGA7 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_R30S,Missense_R30S exm2274099 5 140762896 [A/G] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_032087 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGA7 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_E144K,Missense_E144K exm488632 5 140762993 [A/G] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_032087 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGA7 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_R176H,Missense_R176H exm488634 5 140763029 [A/G] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_032087 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGA7 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_E188G,Missense_E188G exm488639 5 140763100 [T/C] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_032087 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGA7 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_L212F,Missense_L212F exm488643 5 140763182 [T/C] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_032087 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGA7 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_T239M,Missense_T239M exm488648 5 140763278 [A/G] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_032087 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGA7 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_E271G,Missense_E271G exm488649 5 140763317 [A/T] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_032087 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGA7 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_I284K,Missense_I284K exm488651 5 140763370 [T/C] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_032087 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGA7 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_S302P,Missense_S302P exm488654 5 140763490 [T/G] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_032087 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGA7 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_D342Y,Missense_D342Y exm488656 5 140763515 [C/G] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_032087 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGA7 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_T350R,Missense_T350R exm2256990 5 140763615 [A/C] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_032087 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGA7 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Synonymous_T383T,Synonymous_T383T exm488660 5 140763665 [A/G] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_032087 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGA7 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_N400S,Missense_N400S exm488665 5 140763803 [A/G] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_032087 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGA7 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_N446S,Missense_N446S exm488673 5 140764038 [T/G] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_032087 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGA7 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_Q524H,Missense_Q524H exm488718 5 140768132 [G/C] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_032098,NM_003736 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGB4 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_Q227H,Missense_Q227H exm488724 5 140768218 [A/G] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_032098,NM_003736 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGB4 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_Y256C,Missense_Y256C exm488727 5 140768269 [T/G] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_032098,NM_003736 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGB4 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_V273G,Missense_V273G exm488728 5 140768308 [A/C] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_032098,NM_003736 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGB4 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_Q286P,Missense_Q286P exm488742 5 140768577 [G/C] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_032098,NM_003736 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGB4 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_H376D,Missense_H376D exm488746 5 140768676 [A/G] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_032098,NM_003736 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGB4 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_D409N,Missense_D409N exm488747 5 140768709 [A/G] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_032098,NM_003736 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGB4 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_V420I,Missense_V420I exm488749 5 140768767 [A/G] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_032098,NM_003736 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGB4 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_H439R,Missense_H439R exm488756 5 140768844 [T/C] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_032098,NM_003736 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGB4 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_P465S,Missense_P465S exm488783 5 140769438 [C/G] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_032098,NM_003736 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGB4 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_A663P,Missense_A663P exm488797 5 140772427 [T/G] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_003736,NM_032088,NM_014004 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGA8,PCDHGA8 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_L16R,Missense_L16R exm488802 5 140772679 [T/C] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_003736,NM_032088,NM_014004 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGA8,PCDHGA8 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_P100L,Missense_P100L exm488806 5 140772736 [T/C] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_003736,NM_032088,NM_014004 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGA8,PCDHGA8 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_V119A,Missense_V119A exm488810 5 140772822 [C/G] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_003736,NM_032088,NM_014004 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGA8,PCDHGA8 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_P148A,Missense_P148A exm488825 5 140773111 [A/G] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_003736,NM_032088,NM_014004 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGA8,PCDHGA8 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_H244R,Missense_H244R exm488830 5 140773225 [A/G] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_003736,NM_032088,NM_014004 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGA8,PCDHGA8 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_R282Q,Missense_R282Q exm2256991 5 140773388 [T/G] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_003736,NM_032088,NM_014004 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGA8,PCDHGA8 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Synonymous_S336S,Synonymous_S336S exm488842 5 140773461 [G/C] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_003736,NM_032088,NM_014004 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGA8,PCDHGA8 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_L361V,Missense_L361V exm488849 5 140773719 [A/G] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_003736,NM_032088,NM_014004 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGA8,PCDHGA8 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_D447N,Missense_D447N exm488850 5 140773738 [T/C] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_003736,NM_032088,NM_014004 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGA8,PCDHGA8 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_P453L,Missense_P453L exm488854 5 140773812 [A/G] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_003736,NM_032088,NM_014004 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGA8,PCDHGA8 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_D478N,Missense_D478N exm488856 5 140773854 [A/C] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_003736,NM_032088,NM_014004 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGA8,PCDHGA8 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_T492P,Missense_T492P exm488859 5 140773888 [C/G] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_003736,NM_032088,NM_014004 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGA8,PCDHGA8 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_S503W,Missense_S503W exm488864 5 140773960 [A/G] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_003736,NM_032088,NM_014004 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGA8,PCDHGA8 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_D527G,Missense_D527G exm488866 5 140773995 [A/G] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_003736,NM_032088,NM_014004 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGA8,PCDHGA8 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_D539N,Missense_D539N exm488885 5 140774391 [C/G] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_003736,NM_032088,NM_014004 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGA8,PCDHGA8 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_V671L,Missense_V671L exm488886 5 140774403 [T/G] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_003736,NM_032088,NM_014004 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGA8,PCDHGA8 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_L675V,Missense_L675V exm488896 5 140774689 [T/C] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_003736,NM_032088,NM_014004 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGA8,PCDHGA8 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_F770S,Missense_F770S exm488907 5 140778151 [A/G] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_003736,NM_032088,NM_032099,NM_018925 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGA8,PCDHGB5,PCDHGB5 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_I153V,Missense_I153V exm488908 5 140778163 [A/G] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_003736,NM_032088,NM_032099,NM_018925 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGA8,PCDHGB5,PCDHGB5 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_A157T,Missense_A157T exm488909 5 140778256 [A/G] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_003736,NM_032088,NM_032099,NM_018925 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGA8,PCDHGB5,PCDHGB5 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_G188S,Missense_G188S exm488910 5 140778259 [A/G] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_003736,NM_032088,NM_032099,NM_018925 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGA8,PCDHGB5,PCDHGB5 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_S189G,Missense_S189G exm488916 5 140778472 [A/G] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_003736,NM_032088,NM_032099,NM_018925 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGA8,PCDHGB5,PCDHGB5 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_T260A,Missense_T260A exm488917 5 140778505 [T/G] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_003736,NM_032088,NM_032099,NM_018925 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGA8,PCDHGB5,PCDHGB5 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Nonsense_E271X,Nonsense_E271X exm488919 5 140778580 [A/G] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_003736,NM_032088,NM_032099,NM_018925 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGA8,PCDHGB5,PCDHGB5 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_E296K,Missense_E296K exm488924 5 140778760 [A/G] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_003736,NM_032088,NM_032099,NM_018925 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGA8,PCDHGB5,PCDHGB5 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_A356T,Missense_A356T exm488925 5 140778763 [T/G] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_003736,NM_032088,NM_032099,NM_018925 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGA8,PCDHGB5,PCDHGB5 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_V357L,Missense_V357L exm488927 5 140778879 [A/C] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_003736,NM_032088,NM_032099,NM_018925 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGA8,PCDHGB5,PCDHGB5 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_K395N,Missense_K395N exm488932 5 140778962 [A/G] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_003736,NM_032088,NM_032099,NM_018925 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGA8,PCDHGB5,PCDHGB5 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_R423K,Missense_R423K exm488938 5 140779160 [A/C] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_003736,NM_032088,NM_032099,NM_018925 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGA8,PCDHGB5,PCDHGB5 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_A489D,Missense_A489D exm488985 5 140779918 [A/G] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_003736,NM_032088,NM_032099,NM_018925 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGA8,PCDHGB5,PCDHGB5 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_G742R,Missense_G742R exm488987 5 140780029 [T/G] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_003736,NM_032088,NM_032099,NM_018925 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGA8,PCDHGB5,PCDHGB5 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_D779Y,Missense_D779Y exm488988 5 140780036 [T/C] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_003736,NM_032088,NM_032099,NM_018925 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGA8,PCDHGB5,PCDHGB5 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_S781F,Missense_S781F exm488999 5 140782608 [A/G] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_003736,NM_032088,NM_018925,NM_032089,NM_018921 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGA8,PCDHGB5,PCDHGA9,PCDHGA9 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_Q30R,Missense_Q30R exm489010 5 140782951 [A/C] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_003736,NM_032088,NM_018925,NM_032089,NM_018921 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGA8,PCDHGB5,PCDHGA9,PCDHGA9 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_E144D,Missense_E144D exm489016 5 140783285 [T/C] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_003736,NM_032088,NM_018925,NM_032089,NM_018921 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGA8,PCDHGB5,PCDHGA9,PCDHGA9 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_P256S,Missense_P256S exm489023 5 140783490 [T/G] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_003736,NM_032088,NM_018925,NM_032089,NM_018921 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGA8,PCDHGB5,PCDHGA9,PCDHGA9 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_G324V,Missense_G324V exm489037 5 140783873 [T/C] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_003736,NM_032088,NM_018925,NM_032089,NM_018921 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGA8,PCDHGB5,PCDHGA9,PCDHGA9 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_F452L,Missense_F452L exm489038 5 140783898 [A/G] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_003736,NM_032088,NM_018925,NM_032089,NM_018921 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGA8,PCDHGB5,PCDHGA9,PCDHGA9 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_Y460C,Missense_Y460C exm489042 5 140783988 [C/G] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_003736,NM_032088,NM_018925,NM_032089,NM_018921 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGA8,PCDHGB5,PCDHGA9,PCDHGA9 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_S490C,Missense_S490C exm489044 5 140784038 [A/G] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_003736,NM_032088,NM_018925,NM_032089,NM_018921 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGA8,PCDHGB5,PCDHGA9,PCDHGA9 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_I507V,Missense_I507V exm489051 5 140784254 [T/C] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_003736,NM_032088,NM_018925,NM_032089,NM_018921 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGA8,PCDHGB5,PCDHGA9,PCDHGA9 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_P579S,Missense_P579S exm489052 5 140784257 [T/C] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_003736,NM_032088,NM_018925,NM_032089,NM_018921 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGA8,PCDHGB5,PCDHGA9,PCDHGA9 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_R580C,Missense_R580C exm489054 5 140784314 [A/G] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_003736,NM_032088,NM_018925,NM_032089,NM_018921 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGA8,PCDHGB5,PCDHGA9,PCDHGA9 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_G599S,Missense_G599S exm489067 5 140784483 [T/C] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_003736,NM_032088,NM_018925,NM_032089,NM_018921 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGA8,PCDHGB5,PCDHGA9,PCDHGA9 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_S655L,Missense_S655L exm489068 5 140784495 [T/C] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_003736,NM_032088,NM_018925,NM_032089,NM_018921 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGA8,PCDHGB5,PCDHGA9,PCDHGA9 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_T659M,Missense_T659M exm489077 5 140784636 [T/C] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_003736,NM_032088,NM_018925,NM_032089,NM_018921 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGA8,PCDHGB5,PCDHGA9,PCDHGA9 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_T706I,Missense_T706I exm489078 5 140784674 [T/G] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_003736,NM_032088,NM_018925,NM_032089,NM_018921 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGA8,PCDHGB5,PCDHGA9,PCDHGA9 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_W719G,Missense_W719G exm489079 5 140784684 [T/C] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_003736,NM_032088,NM_018925,NM_032089,NM_018921 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGA8,PCDHGB5,PCDHGA9,PCDHGA9 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_S722L,Missense_S722L exm489088 5 140784892 [C/G] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_003736,NM_032088,NM_018925,NM_032089,NM_018921 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGA8,PCDHGB5,PCDHGA9,PCDHGA9 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_L791F,Missense_L791F exm489091 5 140784920 [A/G] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_003736,NM_032088,NM_018925,NM_032089,NM_018921 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGA8,PCDHGB5,PCDHGA9,PCDHGA9 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_I801V,Missense_I801V exm489129 5 140788592 [T/G] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_003736,NM_032088,NM_018925,NM_018921,NM_032100,NM_018926 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGA8,PCDHGB5,PCDHGA9,PCDHGB6,PCDHGB6 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_A275S,Missense_A275S exm489134 5 140788731 [T/C] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_003736,NM_032088,NM_018925,NM_018921,NM_032100,NM_018926 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGA8,PCDHGB5,PCDHGA9,PCDHGB6,PCDHGB6 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_A321V,Missense_A321V exm489144 5 140788965 [A/G] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_003736,NM_032088,NM_018925,NM_018921,NM_032100,NM_018926 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGA8,PCDHGB5,PCDHGA9,PCDHGB6,PCDHGB6 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_N399S,Missense_N399S exm489161 5 140789304 [G/C] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_003736,NM_032088,NM_018925,NM_018921,NM_032100,NM_018926 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGA8,PCDHGB5,PCDHGA9,PCDHGB6,PCDHGB6 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_G512A,Missense_G512A exm489163 5 140789415 [A/G] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_003736,NM_032088,NM_018925,NM_018921,NM_032100,NM_018926 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGA8,PCDHGB5,PCDHGA9,PCDHGB6,PCDHGB6 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_R549H,Missense_R549H exm2089882 5 140789720 [C/G] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_003736,NM_032088,NM_018925,NM_018921,NM_032100,NM_018926 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGA8,PCDHGB5,PCDHGA9,PCDHGB6,PCDHGB6 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_Q651E,Missense_Q651E exm489175 5 140789742 [A/C] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_003736,NM_032088,NM_018925,NM_018921,NM_032100,NM_018926 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGA8,PCDHGB5,PCDHGA9,PCDHGB6,PCDHGB6 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_A658D,Missense_A658D exm489178 5 140789819 [T/C] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_003736,NM_032088,NM_018925,NM_018921,NM_032100,NM_018926 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGA8,PCDHGB5,PCDHGA9,PCDHGB6,PCDHGB6 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_P684S,Missense_P684S exm489181 5 140789933 [A/G] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_003736,NM_032088,NM_018925,NM_018921,NM_032100,NM_018926 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGA8,PCDHGB5,PCDHGA9,PCDHGB6,PCDHGB6 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_A722T,Missense_A722T exm489183 5 140789981 [A/G] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_003736,NM_032088,NM_018925,NM_018921,NM_032100,NM_018926 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGA8,PCDHGB5,PCDHGA9,PCDHGB6,PCDHGB6 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_V738I,Missense_V738I exm489185 5 140790021 [T/C] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_003736,NM_032088,NM_018925,NM_018921,NM_032100,NM_018926 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGA8,PCDHGB5,PCDHGA9,PCDHGB6,PCDHGB6 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_S751F,Missense_S751F exm489188 5 140790092 [T/G] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_003736,NM_032088,NM_018925,NM_018921,NM_032100,NM_018926 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGA8,PCDHGB5,PCDHGA9,PCDHGB6,PCDHGB6 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_S775A,Missense_S775A exm2089885 5 140790128 [T/G] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_003736,NM_032088,NM_018925,NM_018921,NM_032100,NM_018926 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGA8,PCDHGB5,PCDHGA9,PCDHGB6,PCDHGB6 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_A787S,Missense_A787S exm489196 5 140792894 [A/T] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_003736,NM_032088,NM_018925,NM_018921,NM_018926,NM_032090,NM_018913 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGA8,PCDHGB5,PCDHGA9,PCDHGB6,PCDHGA10,PCDHGA10 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_N51I,Missense_N51I exm489205 5 140793052 [C/G] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_003736,NM_032088,NM_018925,NM_018921,NM_018926,NM_032090,NM_018913 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGA8,PCDHGB5,PCDHGA9,PCDHGB6,PCDHGA10,PCDHGA10 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_A104P,Missense_A104P exm489241 5 140794238 [A/C] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_003736,NM_032088,NM_018925,NM_018921,NM_018926,NM_032090,NM_018913 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGA8,PCDHGB5,PCDHGA9,PCDHGB6,PCDHGA10,PCDHGA10 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_T499N,Missense_T499N exm489251 5 140794346 [A/G] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_003736,NM_032088,NM_018925,NM_018921,NM_018926,NM_032090,NM_018913 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGA8,PCDHGB5,PCDHGA9,PCDHGB6,PCDHGA10,PCDHGA10 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_Q535R,Missense_Q535R exm489271 5 140794930 [T/C] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_003736,NM_032088,NM_018925,NM_018921,NM_018926,NM_032090,NM_018913 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGA8,PCDHGB5,PCDHGA9,PCDHGB6,PCDHGA10,PCDHGA10 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Nonsense_Q730X,Nonsense_Q730X exm489272 5 140794963 [A/G] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_003736,NM_032088,NM_018925,NM_018921,NM_018926,NM_032090,NM_018913 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGA8,PCDHGB5,PCDHGA9,PCDHGB6,PCDHGA10,PCDHGA10 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_G741S,Missense_G741S exm2089908 5 140795087 [A/C] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_003736,NM_032088,NM_018925,NM_018921,NM_018926,NM_032090,NM_018913 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGA8,PCDHGB5,PCDHGA9,PCDHGB6,PCDHGA10,PCDHGA10 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_T782K,Missense_T782K exm489278 5 140795128 [T/C] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_003736,NM_032088,NM_018925,NM_018921,NM_018926,NM_032090,NM_018913 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGA8,PCDHGB5,PCDHGA9,PCDHGB6,PCDHGA10,PCDHGA10 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_S796P,Missense_S796P exm2089909 5 140795143 [T/C] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_003736,NM_032088,NM_018925,NM_018921,NM_018926,NM_032090,NM_018913 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGA8,PCDHGB5,PCDHGA9,PCDHGB6,PCDHGA10,PCDHGA10 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_S801P,Missense_S801P exm489281 5 140795153 [T/C] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_003736,NM_032088,NM_018925,NM_018921,NM_018926,NM_032090,NM_018913 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGA8,PCDHGB5,PCDHGA9,PCDHGB6,PCDHGA10,PCDHGA10 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_P804L,Missense_P804L exm489283 5 140795157 [A/G] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_003736,NM_032088,NM_018925,NM_018921,NM_018926,NM_032090,NM_018913 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGA8,PCDHGB5,PCDHGA9,PCDHGB6,PCDHGA10,PCDHGA10 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_I805M,Missense_I805M exm489286 5 140795212 [T/A] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_003736,NM_032088,NM_018925,NM_018921,NM_018926,NM_032090,NM_018913 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGA8,PCDHGB5,PCDHGA9,PCDHGB6,PCDHGA10,PCDHGA10 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Nonsense_K824X,Silent exm489288 5 140795245 [A/G] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_003736,NM_032088,NM_018925,NM_018921,NM_018926,NM_032090,NM_018913 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGA8,PCDHGB5,PCDHGA9,PCDHGB6,PCDHGA10,PCDHGA10 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_G835S,Silent exm2256992 5 140797630 [T/G] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_003736,NM_032088,NM_018925,NM_018921,NM_018926,NM_018913,NM_032101,NM_018927 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGA8,PCDHGB5,PCDHGA9,PCDHGB6,PCDHGA10,PCDHGB7,PCDHGB7 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Synonymous_V68V,Synonymous_V68V exm489311 5 140797827 [A/G] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_003736,NM_032088,NM_018925,NM_018921,NM_018926,NM_018913,NM_032101,NM_018927 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGA8,PCDHGB5,PCDHGA9,PCDHGB6,PCDHGA10,PCDHGB7,PCDHGB7 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_R134Q,Missense_R134Q exm489323 5 140798156 [G/C] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_003736,NM_032088,NM_018925,NM_018921,NM_018926,NM_018913,NM_032101,NM_018927 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGA8,PCDHGB5,PCDHGA9,PCDHGB6,PCDHGA10,PCDHGB7,PCDHGB7 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_Q244E,Missense_Q244E exm489326 5 140798210 [A/C] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_003736,NM_032088,NM_018925,NM_018921,NM_018926,NM_018913,NM_032101,NM_018927 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGA8,PCDHGB5,PCDHGA9,PCDHGB6,PCDHGA10,PCDHGB7,PCDHGB7 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_L262M,Missense_L262M exm489332 5 140798377 [A/G] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_003736,NM_032088,NM_018925,NM_018921,NM_018926,NM_018913,NM_032101,NM_018927 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGA8,PCDHGB5,PCDHGA9,PCDHGB6,PCDHGA10,PCDHGB7,PCDHGB7 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_I317M,Missense_I317M exm489341 5 140798631 [A/G] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_003736,NM_032088,NM_018925,NM_018921,NM_018926,NM_018913,NM_032101,NM_018927 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGA8,PCDHGB5,PCDHGA9,PCDHGB6,PCDHGA10,PCDHGB7,PCDHGB7 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_Y402C,Missense_Y402C exm489343 5 140798669 [A/G] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_003736,NM_032088,NM_018925,NM_018921,NM_018926,NM_018913,NM_032101,NM_018927 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGA8,PCDHGB5,PCDHGA9,PCDHGB6,PCDHGA10,PCDHGB7,PCDHGB7 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_T415A,Missense_T415A exm489345 5 140798742 [A/C] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_003736,NM_032088,NM_018925,NM_018921,NM_018926,NM_018913,NM_032101,NM_018927 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGA8,PCDHGB5,PCDHGA9,PCDHGB6,PCDHGA10,PCDHGB7,PCDHGB7 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_T439N,Missense_T439N exm489349 5 140798917 [T/G] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_003736,NM_032088,NM_018925,NM_018921,NM_018926,NM_018913,NM_032101,NM_018927 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGA8,PCDHGB5,PCDHGA9,PCDHGB6,PCDHGA10,PCDHGB7,PCDHGB7 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_E497D,Missense_E497D exm489363 5 140799123 [A/C] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_003736,NM_032088,NM_018925,NM_018921,NM_018926,NM_018913,NM_032101,NM_018927 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGA8,PCDHGB5,PCDHGA9,PCDHGB6,PCDHGA10,PCDHGB7,PCDHGB7 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_A566E,Missense_A566E exm489381 5 140799306 [A/G] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_003736,NM_032088,NM_018925,NM_018921,NM_018926,NM_018913,NM_032101,NM_018927 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGA8,PCDHGB5,PCDHGA9,PCDHGB6,PCDHGA10,PCDHGB7,PCDHGB7 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_R627H,Missense_R627H exm489400 5 140799812 [A/G] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_003736,NM_032088,NM_018925,NM_018921,NM_018926,NM_018913,NM_032101,NM_018927 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGA8,PCDHGB5,PCDHGA9,PCDHGB6,PCDHGA10,PCDHGB7,PCDHGB7 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_V796I,Missense_V796I exm489403 5 140800810 [A/C] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_003736,NM_032088,NM_018925,NM_018921,NM_018926,NM_018913,NM_018927,NM_032091,NM_032092,NM_018914 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGA8,PCDHGB5,PCDHGA9,PCDHGB6,PCDHGA10,PCDHGB7,PCDHGA11,PCDHGA11,PCDHGA11 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_Q6K,Missense_Q6K,Missense_Q6K exm489436 5 140801426 [T/C] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_003736,NM_032088,NM_018925,NM_018921,NM_018926,NM_018913,NM_018927,NM_032091,NM_032092,NM_018914 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGA8,PCDHGB5,PCDHGA9,PCDHGB6,PCDHGA10,PCDHGB7,PCDHGA11,PCDHGA11,PCDHGA11 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_L211P,Missense_L211P,Missense_L211P exm489438 5 140801520 [A/G] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_003736,NM_032088,NM_018925,NM_018921,NM_018926,NM_018913,NM_018927,NM_032091,NM_032092,NM_018914 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGA8,PCDHGB5,PCDHGA9,PCDHGB6,PCDHGA10,PCDHGB7,PCDHGA11,PCDHGA11,PCDHGA11 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_M242I,Missense_M242I,Missense_M242I exm489444 5 140801771 [A/G] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_003736,NM_032088,NM_018925,NM_018921,NM_018926,NM_018913,NM_018927,NM_032091,NM_032092,NM_018914 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGA8,PCDHGB5,PCDHGA9,PCDHGB6,PCDHGA10,PCDHGB7,PCDHGA11,PCDHGA11,PCDHGA11 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_G326E,Missense_G326E,Missense_G326E exm2089935 5 140801863 [A/G] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_003736,NM_032088,NM_018925,NM_018921,NM_018926,NM_018913,NM_018927,NM_032091,NM_032092,NM_018914 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGA8,PCDHGB5,PCDHGA9,PCDHGB6,PCDHGA10,PCDHGB7,PCDHGA11,PCDHGA11,PCDHGA11 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_I357V,Missense_I357V,Missense_I357V exm489447 5 140801876 [T/C] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_003736,NM_032088,NM_018925,NM_018921,NM_018926,NM_018913,NM_018927,NM_032091,NM_032092,NM_018914 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGA8,PCDHGB5,PCDHGA9,PCDHGB6,PCDHGA10,PCDHGB7,PCDHGA11,PCDHGA11,PCDHGA11 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_S361F,Missense_S361F,Missense_S361F exm489449 5 140801897 [T/C] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_003736,NM_032088,NM_018925,NM_018921,NM_018926,NM_018913,NM_018927,NM_032091,NM_032092,NM_018914 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGA8,PCDHGB5,PCDHGA9,PCDHGB6,PCDHGA10,PCDHGB7,PCDHGA11,PCDHGA11,PCDHGA11 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_A368V,Missense_A368V,Missense_A368V exm489450 5 140801950 [T/C] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_003736,NM_032088,NM_018925,NM_018921,NM_018926,NM_018913,NM_018927,NM_032091,NM_032092,NM_018914 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGA8,PCDHGB5,PCDHGA9,PCDHGB6,PCDHGA10,PCDHGB7,PCDHGA11,PCDHGA11,PCDHGA11 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_F386L,Missense_F386L,Missense_F386L exm489451 5 140802002 [A/G] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_003736,NM_032088,NM_018925,NM_018921,NM_018926,NM_018913,NM_018927,NM_032091,NM_032092,NM_018914 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGA8,PCDHGB5,PCDHGA9,PCDHGB6,PCDHGA10,PCDHGB7,PCDHGA11,PCDHGA11,PCDHGA11 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_Y403C,Missense_Y403C,Missense_Y403C exm489457 5 140802199 [T/G] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_003736,NM_032088,NM_018925,NM_018921,NM_018926,NM_018913,NM_018927,NM_032091,NM_032092,NM_018914 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGA8,PCDHGB5,PCDHGA9,PCDHGB6,PCDHGA10,PCDHGB7,PCDHGA11,PCDHGA11,PCDHGA11 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_G469C,Missense_G469C,Missense_G469C exm489459 5 140802316 [A/G] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_003736,NM_032088,NM_018925,NM_018921,NM_018926,NM_018913,NM_018927,NM_032091,NM_032092,NM_018914 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGA8,PCDHGB5,PCDHGA9,PCDHGB6,PCDHGA10,PCDHGB7,PCDHGA11,PCDHGA11,PCDHGA11 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_I508V,Missense_I508V,Missense_I508V exm489461 5 140802374 [A/G] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_003736,NM_032088,NM_018925,NM_018921,NM_018926,NM_018913,NM_018927,NM_032091,NM_032092,NM_018914 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGA8,PCDHGB5,PCDHGA9,PCDHGB6,PCDHGA10,PCDHGB7,PCDHGA11,PCDHGA11,PCDHGA11 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_R527Q,Missense_R527Q,Missense_R527Q exm489466 5 140802434 [T/C] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_003736,NM_032088,NM_018925,NM_018921,NM_018926,NM_018913,NM_018927,NM_032091,NM_032092,NM_018914 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGA8,PCDHGB5,PCDHGA9,PCDHGB6,PCDHGA10,PCDHGB7,PCDHGA11,PCDHGA11,PCDHGA11 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_V547A,Missense_V547A,Missense_V547A exm489477 5 140802620 [T/C] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_003736,NM_032088,NM_018925,NM_018921,NM_018926,NM_018913,NM_018927,NM_032091,NM_032092,NM_018914 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGA8,PCDHGB5,PCDHGA9,PCDHGB6,PCDHGA10,PCDHGB7,PCDHGA11,PCDHGA11,PCDHGA11 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_L609P,Missense_L609P,Missense_L609P exm489489 5 140802890 [A/C] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_003736,NM_032088,NM_018925,NM_018921,NM_018926,NM_018913,NM_018927,NM_032091,NM_032092,NM_018914 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGA8,PCDHGB5,PCDHGA9,PCDHGB6,PCDHGA10,PCDHGB7,PCDHGA11,PCDHGA11,PCDHGA11 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_A699D,Silent,Missense_A699D exm489490 5 140802892 [A/G] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_003736,NM_032088,NM_018925,NM_018921,NM_018926,NM_018913,NM_018927,NM_032091,NM_032092,NM_018914 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGA8,PCDHGB5,PCDHGA9,PCDHGB6,PCDHGA10,PCDHGB7,PCDHGA11,PCDHGA11,PCDHGA11 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_A700T,Silent,Missense_A700T exm489496 5 140802967 [A/C] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_003736,NM_032088,NM_018925,NM_018921,NM_018926,NM_018913,NM_018927,NM_032091,NM_032092,NM_018914 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGA8,PCDHGB5,PCDHGA9,PCDHGB6,PCDHGA10,PCDHGB7,PCDHGA11,PCDHGA11,PCDHGA11 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_L725M,Silent,Missense_L725M exm489498 5 140803024 [A/G] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_003736,NM_032088,NM_018925,NM_018921,NM_018926,NM_018913,NM_018927,NM_032091,NM_032092,NM_018914 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGA8,PCDHGB5,PCDHGA9,PCDHGB6,PCDHGA10,PCDHGB7,PCDHGA11,PCDHGA11,PCDHGA11 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_V744M,Silent,Missense_V744M exm489500 5 140803055 [A/G] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_003736,NM_032088,NM_018925,NM_018921,NM_018926,NM_018913,NM_018927,NM_032091,NM_032092,NM_018914 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGA8,PCDHGB5,PCDHGA9,PCDHGB6,PCDHGA10,PCDHGB7,PCDHGA11,PCDHGA11,PCDHGA11 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_Y754C,Silent,Missense_Y754C exm489504 5 140803241 [A/C] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_003736,NM_032088,NM_018925,NM_018921,NM_018926,NM_018913,NM_018927,NM_032091,NM_032092,NM_018914 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGA8,PCDHGB5,PCDHGA9,PCDHGB6,PCDHGA10,PCDHGB7,PCDHGA11,PCDHGA11,PCDHGA11 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_S816Y,Silent,Silent exm489505 5 140803260 [T/G] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_003736,NM_032088,NM_018925,NM_018921,NM_018926,NM_018913,NM_018927,NM_032091,NM_032092,NM_018914 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGA8,PCDHGB5,PCDHGA9,PCDHGB6,PCDHGA10,PCDHGB7,PCDHGA11,PCDHGA11,PCDHGA11 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_W822C,Silent,Silent exm489509 5 140810381 [T/C] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_003736,NM_032088,NM_018925,NM_018921,NM_018926,NM_018913,NM_018927,NM_032092,NM_018914,NM_003735,NM_032094 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGA8,PCDHGB5,PCDHGA9,PCDHGB6,PCDHGA10,PCDHGB7,PCDHGA11,PCDHGA11,PCDHGA12,PCDHGA12 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_L19F,Missense_L19F exm489513 5 140810493 [A/C] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_003736,NM_032088,NM_018925,NM_018921,NM_018926,NM_018913,NM_018927,NM_032092,NM_018914,NM_003735,NM_032094 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGA8,PCDHGB5,PCDHGA9,PCDHGB6,PCDHGA10,PCDHGB7,PCDHGA11,PCDHGA11,PCDHGA12,PCDHGA12 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_P56H,Missense_P56H exm489525 5 140810655 [T/C] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_003736,NM_032088,NM_018925,NM_018921,NM_018926,NM_018913,NM_018927,NM_032092,NM_018914,NM_003735,NM_032094 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGA8,PCDHGB5,PCDHGA9,PCDHGB6,PCDHGA10,PCDHGB7,PCDHGA11,PCDHGA11,PCDHGA12,PCDHGA12 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_M110T,Missense_M110T exm2241899 5 140810735 [A/G] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_003736,NM_032088,NM_018925,NM_018921,NM_018926,NM_018913,NM_018927,NM_032092,NM_018914,NM_003735,NM_032094 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGA8,PCDHGB5,PCDHGA9,PCDHGB6,PCDHGA10,PCDHGB7,PCDHGA11,PCDHGA11,PCDHGA12,PCDHGA12 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_E137K,Missense_E137K exm489537 5 140810888 [T/G] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_003736,NM_032088,NM_018925,NM_018921,NM_018926,NM_018913,NM_018927,NM_032092,NM_018914,NM_003735,NM_032094 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGA8,PCDHGB5,PCDHGA9,PCDHGB6,PCDHGA10,PCDHGB7,PCDHGA11,PCDHGA11,PCDHGA12,PCDHGA12 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_G188C,Missense_G188C exm489543 5 140811030 [T/C] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_003736,NM_032088,NM_018925,NM_018921,NM_018926,NM_018913,NM_018927,NM_032092,NM_018914,NM_003735,NM_032094 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGA8,PCDHGB5,PCDHGA9,PCDHGB6,PCDHGA10,PCDHGB7,PCDHGA11,PCDHGA11,PCDHGA12,PCDHGA12 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_A235V,Missense_A235V exm489545 5 140811096 [T/C] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_003736,NM_032088,NM_018925,NM_018921,NM_018926,NM_018913,NM_018927,NM_032092,NM_018914,NM_003735,NM_032094 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGA8,PCDHGB5,PCDHGA9,PCDHGB6,PCDHGA10,PCDHGB7,PCDHGA11,PCDHGA11,PCDHGA12,PCDHGA12 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_L257S,Missense_L257S exm489554 5 140811344 [T/G] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_003736,NM_032088,NM_018925,NM_018921,NM_018926,NM_018913,NM_018927,NM_032092,NM_018914,NM_003735,NM_032094 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGA8,PCDHGB5,PCDHGA9,PCDHGB6,PCDHGA10,PCDHGB7,PCDHGA11,PCDHGA11,PCDHGA12,PCDHGA12 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_V340L,Missense_V340L exm489560 5 140811573 [T/C] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_003736,NM_032088,NM_018925,NM_018921,NM_018926,NM_018913,NM_018927,NM_032092,NM_018914,NM_003735,NM_032094 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGA8,PCDHGB5,PCDHGA9,PCDHGB6,PCDHGA10,PCDHGB7,PCDHGA11,PCDHGA11,PCDHGA12,PCDHGA12 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_P416L,Missense_P416L exm489563 5 140811605 [T/C] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_003736,NM_032088,NM_018925,NM_018921,NM_018926,NM_018913,NM_018927,NM_032092,NM_018914,NM_003735,NM_032094 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGA8,PCDHGB5,PCDHGA9,PCDHGB6,PCDHGA10,PCDHGB7,PCDHGA11,PCDHGA11,PCDHGA12,PCDHGA12 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_R427W,Missense_R427W exm489575 5 140811738 [T/C] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_003736,NM_032088,NM_018925,NM_018921,NM_018926,NM_018913,NM_018927,NM_032092,NM_018914,NM_003735,NM_032094 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGA8,PCDHGB5,PCDHGA9,PCDHGB6,PCDHGA10,PCDHGB7,PCDHGA11,PCDHGA11,PCDHGA12,PCDHGA12 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_L471P,Missense_L471P exm489578 5 140811814 [C/G] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_003736,NM_032088,NM_018925,NM_018921,NM_018926,NM_018913,NM_018927,NM_032092,NM_018914,NM_003735,NM_032094 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGA8,PCDHGB5,PCDHGA9,PCDHGB6,PCDHGA10,PCDHGB7,PCDHGA11,PCDHGA11,PCDHGA12,PCDHGA12 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_I496M,Missense_I496M exm489579 5 140811849 [A/G] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_003736,NM_032088,NM_018925,NM_018921,NM_018926,NM_018913,NM_018927,NM_032092,NM_018914,NM_003735,NM_032094 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGA8,PCDHGB5,PCDHGA9,PCDHGB6,PCDHGA10,PCDHGB7,PCDHGA11,PCDHGA11,PCDHGA12,PCDHGA12 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_N508S,Missense_N508S exm2089960 5 140811854 [A/G] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_003736,NM_032088,NM_018925,NM_018921,NM_018926,NM_018913,NM_018927,NM_032092,NM_018914,NM_003735,NM_032094 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGA8,PCDHGB5,PCDHGA9,PCDHGB6,PCDHGA10,PCDHGB7,PCDHGA11,PCDHGA11,PCDHGA12,PCDHGA12 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_D510N,Missense_D510N exm489618 5 140812748 [T/G] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_003736,NM_032088,NM_018925,NM_018921,NM_018926,NM_018913,NM_018927,NM_032092,NM_018914,NM_003735,NM_032094 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGA8,PCDHGB5,PCDHGA9,PCDHGB6,PCDHGA10,PCDHGB7,PCDHGA11,PCDHGA11,PCDHGA12,PCDHGA12 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Nonsense_E808X,Nonsense_E808X exm489628 5 140855813 [A/G] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_003736,NM_032088,NM_018925,NM_018921,NM_018926,NM_018913,NM_018927,NM_032092,NM_018914,NM_003735,NM_032403,NM_032402,NM_002588 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGA8,PCDHGB5,PCDHGA9,PCDHGB6,PCDHGA10,PCDHGB7,PCDHGA11,PCDHGA11,PCDHGA12,PCDHGC3,PCDHGC3,PCDHGC3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_G44S,Missense_G44S exm489635 5 140856045 [T/A] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_003736,NM_032088,NM_018925,NM_018921,NM_018926,NM_018913,NM_018927,NM_032092,NM_018914,NM_003735,NM_032403,NM_032402,NM_002588 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGA8,PCDHGB5,PCDHGA9,PCDHGB6,PCDHGA10,PCDHGB7,PCDHGA11,PCDHGA11,PCDHGA12,PCDHGC3,PCDHGC3,PCDHGC3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_V121E,Missense_V121E exm489644 5 140856212 [A/G] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_003736,NM_032088,NM_018925,NM_018921,NM_018926,NM_018913,NM_018927,NM_032092,NM_018914,NM_003735,NM_032403,NM_032402,NM_002588 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGA8,PCDHGB5,PCDHGA9,PCDHGB6,PCDHGA10,PCDHGB7,PCDHGA11,PCDHGA11,PCDHGA12,PCDHGC3,PCDHGC3,PCDHGC3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_N177D,Missense_N177D exm489651 5 140856422 [T/C] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_003736,NM_032088,NM_018925,NM_018921,NM_018926,NM_018913,NM_018927,NM_032092,NM_018914,NM_003735,NM_032403,NM_032402,NM_002588 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGA8,PCDHGB5,PCDHGA9,PCDHGB6,PCDHGA10,PCDHGB7,PCDHGA11,PCDHGA11,PCDHGA12,PCDHGC3,PCDHGC3,PCDHGC3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_S247P,Missense_S247P exm489660 5 140856729 [A/C] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_003736,NM_032088,NM_018925,NM_018921,NM_018926,NM_018913,NM_018927,NM_032092,NM_018914,NM_003735,NM_032403,NM_032402,NM_002588 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGA8,PCDHGB5,PCDHGA9,PCDHGB6,PCDHGA10,PCDHGB7,PCDHGA11,PCDHGA11,PCDHGA12,PCDHGC3,PCDHGC3,PCDHGC3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_A349D,Missense_A349D exm489668 5 140856972 [A/G] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_003736,NM_032088,NM_018925,NM_018921,NM_018926,NM_018913,NM_018927,NM_032092,NM_018914,NM_003735,NM_032403,NM_032402,NM_002588 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGA8,PCDHGB5,PCDHGA9,PCDHGB6,PCDHGA10,PCDHGB7,PCDHGA11,PCDHGA11,PCDHGA12,PCDHGC3,PCDHGC3,PCDHGC3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_R430Q,Missense_R430Q exm489694 5 140857866 [A/G] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_003736,NM_032088,NM_018925,NM_018921,NM_018926,NM_018913,NM_018927,NM_032092,NM_018914,NM_003735,NM_032403,NM_032402,NM_002588 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGA8,PCDHGB5,PCDHGA9,PCDHGB6,PCDHGA10,PCDHGB7,PCDHGA11,PCDHGA11,PCDHGA12,PCDHGC3,PCDHGC3,PCDHGC3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_R728Q,Missense_R728Q exm489704 5 140864784 [T/C] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_003736,NM_032088,NM_018925,NM_018921,NM_018926,NM_018913,NM_018927,NM_032092,NM_018914,NM_003735,NM_032403,NM_002588,NM_032406,NM_018928 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGA8,PCDHGB5,PCDHGA9,PCDHGB6,PCDHGA10,PCDHGB7,PCDHGA11,PCDHGA11,PCDHGA12,PCDHGC3,PCDHGC3,PCDHGC4,PCDHGC4 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_A15V,Missense_A15V exm489706 5 140864858 [A/C] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_003736,NM_032088,NM_018925,NM_018921,NM_018926,NM_018913,NM_018927,NM_032092,NM_018914,NM_003735,NM_032403,NM_002588,NM_032406,NM_018928 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGA8,PCDHGB5,PCDHGA9,PCDHGB6,PCDHGA10,PCDHGB7,PCDHGA11,PCDHGA11,PCDHGA12,PCDHGC3,PCDHGC3,PCDHGC4,PCDHGC4 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_Q40K,Missense_Q40K exm489714 5 140865264 [A/G] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_003736,NM_032088,NM_018925,NM_018921,NM_018926,NM_018913,NM_018927,NM_032092,NM_018914,NM_003735,NM_032403,NM_002588,NM_032406,NM_018928 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGA8,PCDHGB5,PCDHGA9,PCDHGB6,PCDHGA10,PCDHGB7,PCDHGA11,PCDHGA11,PCDHGA12,PCDHGC3,PCDHGC3,PCDHGC4,PCDHGC4 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_N175S,Missense_N175S exm489721 5 140865563 [A/G] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_003736,NM_032088,NM_018925,NM_018921,NM_018926,NM_018913,NM_018927,NM_032092,NM_018914,NM_003735,NM_032403,NM_002588,NM_032406,NM_018928 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGA8,PCDHGB5,PCDHGA9,PCDHGB6,PCDHGA10,PCDHGB7,PCDHGA11,PCDHGA11,PCDHGA12,PCDHGC3,PCDHGC3,PCDHGC4,PCDHGC4 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_G275S,Missense_G275S exm489752 5 140866608 [A/G] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_003736,NM_032088,NM_018925,NM_018921,NM_018926,NM_018913,NM_018927,NM_032092,NM_018914,NM_003735,NM_032403,NM_002588,NM_032406,NM_018928 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGA8,PCDHGB5,PCDHGA9,PCDHGB6,PCDHGA10,PCDHGB7,PCDHGA11,PCDHGA11,PCDHGA12,PCDHGC3,PCDHGC3,PCDHGC4,PCDHGC4 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_R623Q,Missense_R623Q exm489759 5 140866832 [C/G] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_003736,NM_032088,NM_018925,NM_018921,NM_018926,NM_018913,NM_018927,NM_032092,NM_018914,NM_003735,NM_032403,NM_002588,NM_032406,NM_018928 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGA8,PCDHGB5,PCDHGA9,PCDHGB6,PCDHGA10,PCDHGB7,PCDHGA11,PCDHGA11,PCDHGA12,PCDHGC3,PCDHGC3,PCDHGC4,PCDHGC4 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_V698L,Missense_V698L exm489768 5 140867006 [T/A] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_003736,NM_032088,NM_018925,NM_018921,NM_018926,NM_018913,NM_018927,NM_032092,NM_018914,NM_003735,NM_032403,NM_002588,NM_032406,NM_018928 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGA8,PCDHGB5,PCDHGA9,PCDHGB6,PCDHGA10,PCDHGB7,PCDHGA11,PCDHGA11,PCDHGA12,PCDHGC3,PCDHGC3,PCDHGC4,PCDHGC4 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_S756T,Missense_S756T exm489770 5 140867061 [A/C] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_003736,NM_032088,NM_018925,NM_018921,NM_018926,NM_018913,NM_018927,NM_032092,NM_018914,NM_003735,NM_032403,NM_002588,NM_032406,NM_018928 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGA8,PCDHGB5,PCDHGA9,PCDHGB6,PCDHGA10,PCDHGB7,PCDHGA11,PCDHGA11,PCDHGA12,PCDHGC3,PCDHGC3,PCDHGC4,PCDHGC4 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_P774H,Missense_P774H exm489772 5 140867087 [A/G] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_003736,NM_032088,NM_018925,NM_018921,NM_018926,NM_018913,NM_018927,NM_032092,NM_018914,NM_003735,NM_032403,NM_002588,NM_032406,NM_018928 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGA8,PCDHGB5,PCDHGA9,PCDHGB6,PCDHGA10,PCDHGB7,PCDHGA11,PCDHGA11,PCDHGA12,PCDHGC3,PCDHGC3,PCDHGC4,PCDHGC4 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_D783N,Missense_D783N exm489774 5 140867123 [A/G] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_003736,NM_032088,NM_018925,NM_018921,NM_018926,NM_018913,NM_018927,NM_032092,NM_018914,NM_003735,NM_032403,NM_002588,NM_032406,NM_018928 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGA8,PCDHGB5,PCDHGA9,PCDHGB6,PCDHGA10,PCDHGB7,PCDHGA11,PCDHGA11,PCDHGA12,PCDHGC3,PCDHGC3,PCDHGC4,PCDHGC4 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_M795V,Missense_M795V exm489782 5 140867277 [A/G] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_003736,NM_032088,NM_018925,NM_018921,NM_018926,NM_018913,NM_018927,NM_032092,NM_018914,NM_003735,NM_032403,NM_002588,NM_032406,NM_018928 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGA8,PCDHGB5,PCDHGA9,PCDHGB6,PCDHGA10,PCDHGB7,PCDHGA11,PCDHGA11,PCDHGA12,PCDHGC3,PCDHGC3,PCDHGC4,PCDHGC4 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_S846N,Silent exm489787 5 140868835 [A/G] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_003736,NM_032088,NM_018925,NM_018921,NM_018926,NM_018913,NM_018927,NM_032092,NM_018914,NM_003735,NM_032403,NM_002588,NM_018928,NM_032407,NM_018929 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGA8,PCDHGB5,PCDHGA9,PCDHGB6,PCDHGA10,PCDHGB7,PCDHGA11,PCDHGA11,PCDHGA12,PCDHGC3,PCDHGC3,PCDHGC4,PCDHGC5,PCDHGC5 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_A10T,Missense_A10T exm489795 5 140869025 [A/G] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_003736,NM_032088,NM_018925,NM_018921,NM_018926,NM_018913,NM_018927,NM_032092,NM_018914,NM_003735,NM_032403,NM_002588,NM_018928,NM_032407,NM_018929 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGA8,PCDHGB5,PCDHGA9,PCDHGB6,PCDHGA10,PCDHGB7,PCDHGA11,PCDHGA11,PCDHGA12,PCDHGC3,PCDHGC3,PCDHGC4,PCDHGC5,PCDHGC5 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_R73H,Missense_R73H exm489797 5 140869081 [T/C] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_003736,NM_032088,NM_018925,NM_018921,NM_018926,NM_018913,NM_018927,NM_032092,NM_018914,NM_003735,NM_032403,NM_002588,NM_018928,NM_032407,NM_018929 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGA8,PCDHGB5,PCDHGA9,PCDHGB6,PCDHGA10,PCDHGB7,PCDHGA11,PCDHGA11,PCDHGA12,PCDHGC3,PCDHGC3,PCDHGC4,PCDHGC5,PCDHGC5 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Nonsense_R92X,Nonsense_R92X exm489801 5 140869177 [G/C] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_003736,NM_032088,NM_018925,NM_018921,NM_018926,NM_018913,NM_018927,NM_032092,NM_018914,NM_003735,NM_032403,NM_002588,NM_018928,NM_032407,NM_018929 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGA8,PCDHGB5,PCDHGA9,PCDHGB6,PCDHGA10,PCDHGB7,PCDHGA11,PCDHGA11,PCDHGA12,PCDHGC3,PCDHGC3,PCDHGC4,PCDHGC5,PCDHGC5 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_L124V,Missense_L124V exm489803 5 140869229 [A/G] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_003736,NM_032088,NM_018925,NM_018921,NM_018926,NM_018913,NM_018927,NM_032092,NM_018914,NM_003735,NM_032403,NM_002588,NM_018928,NM_032407,NM_018929 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGA8,PCDHGB5,PCDHGA9,PCDHGB6,PCDHGA10,PCDHGB7,PCDHGA11,PCDHGA11,PCDHGA12,PCDHGC3,PCDHGC3,PCDHGC4,PCDHGC5,PCDHGC5 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_R141H,Missense_R141H exm489819 5 140869549 [T/C] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_003736,NM_032088,NM_018925,NM_018921,NM_018926,NM_018913,NM_018927,NM_032092,NM_018914,NM_003735,NM_032403,NM_002588,NM_018928,NM_032407,NM_018929 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGA8,PCDHGB5,PCDHGA9,PCDHGB6,PCDHGA10,PCDHGB7,PCDHGA11,PCDHGA11,PCDHGA12,PCDHGC3,PCDHGC3,PCDHGC4,PCDHGC5,PCDHGC5 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_R248C,Missense_R248C exm489823 5 140869600 [A/C] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_003736,NM_032088,NM_018925,NM_018921,NM_018926,NM_018913,NM_018927,NM_032092,NM_018914,NM_003735,NM_032403,NM_002588,NM_018928,NM_032407,NM_018929 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGA8,PCDHGB5,PCDHGA9,PCDHGB6,PCDHGA10,PCDHGB7,PCDHGA11,PCDHGA11,PCDHGA12,PCDHGC3,PCDHGC3,PCDHGC4,PCDHGC5,PCDHGC5 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_N265H,Missense_N265H exm489825 5 140869630 [A/G] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_003736,NM_032088,NM_018925,NM_018921,NM_018926,NM_018913,NM_018927,NM_032092,NM_018914,NM_003735,NM_032403,NM_002588,NM_018928,NM_032407,NM_018929 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGA8,PCDHGB5,PCDHGA9,PCDHGB6,PCDHGA10,PCDHGB7,PCDHGA11,PCDHGA11,PCDHGA12,PCDHGC3,PCDHGC3,PCDHGC4,PCDHGC5,PCDHGC5 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_G275S,Missense_G275S exm489830 5 140869774 [G/C] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_003736,NM_032088,NM_018925,NM_018921,NM_018926,NM_018913,NM_018927,NM_032092,NM_018914,NM_003735,NM_032403,NM_002588,NM_018928,NM_032407,NM_018929 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGA8,PCDHGB5,PCDHGA9,PCDHGB6,PCDHGA10,PCDHGB7,PCDHGA11,PCDHGA11,PCDHGA12,PCDHGC3,PCDHGC3,PCDHGC4,PCDHGC5,PCDHGC5 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_R323G,Missense_R323G exm489847 5 140870165 [A/G] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_003736,NM_032088,NM_018925,NM_018921,NM_018926,NM_018913,NM_018927,NM_032092,NM_018914,NM_003735,NM_032403,NM_002588,NM_018928,NM_032407,NM_018929 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGA8,PCDHGB5,PCDHGA9,PCDHGB6,PCDHGA10,PCDHGB7,PCDHGA11,PCDHGA11,PCDHGA12,PCDHGC3,PCDHGC3,PCDHGC4,PCDHGC5,PCDHGC5 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_R453H,Missense_R453H exm489855 5 140870270 [A/G] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_003736,NM_032088,NM_018925,NM_018921,NM_018926,NM_018913,NM_018927,NM_032092,NM_018914,NM_003735,NM_032403,NM_002588,NM_018928,NM_032407,NM_018929 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGA8,PCDHGB5,PCDHGA9,PCDHGB6,PCDHGA10,PCDHGB7,PCDHGA11,PCDHGA11,PCDHGA12,PCDHGC3,PCDHGC3,PCDHGC4,PCDHGC5,PCDHGC5 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_R488H,Missense_R488H exm489869 5 140870516 [A/G] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_003736,NM_032088,NM_018925,NM_018921,NM_018926,NM_018913,NM_018927,NM_032092,NM_018914,NM_003735,NM_032403,NM_002588,NM_018928,NM_032407,NM_018929 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGA8,PCDHGB5,PCDHGA9,PCDHGB6,PCDHGA10,PCDHGB7,PCDHGA11,PCDHGA11,PCDHGA12,PCDHGC3,PCDHGC3,PCDHGC4,PCDHGC5,PCDHGC5 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_D570G,Missense_D570G exm489882 5 140870828 [T/C] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_003736,NM_032088,NM_018925,NM_018921,NM_018926,NM_018913,NM_018927,NM_032092,NM_018914,NM_003735,NM_032403,NM_002588,NM_018928,NM_032407,NM_018929 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGA8,PCDHGB5,PCDHGA9,PCDHGB6,PCDHGA10,PCDHGB7,PCDHGA11,PCDHGA11,PCDHGA12,PCDHGC3,PCDHGC3,PCDHGC4,PCDHGC5,PCDHGC5 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_M674T,Missense_M674T exm489899 5 140871425 [A/G] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_003736,NM_032088,NM_018925,NM_018921,NM_018926,NM_018913,NM_018927,NM_032092,NM_018914,NM_003735,NM_032403,NM_002588,NM_018928,NM_032407,NM_018929 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGA8,PCDHGB5,PCDHGA9,PCDHGB6,PCDHGA10,PCDHGB7,PCDHGA11,PCDHGA11,PCDHGA12,PCDHGC3,PCDHGC3,PCDHGC4,PCDHGC5,PCDHGC5 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_E873G,Silent exm489901 5 140874422 [A/G] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_003736,NM_032088,NM_018925,NM_018921,NM_018926,NM_018913,NM_018927,NM_032092,NM_018914,NM_003735,NM_032403,NM_002588,NM_018928,NM_018929 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGA8,PCDHGB5,PCDHGA9,PCDHGB6,PCDHGA10,PCDHGB7,PCDHGA11,PCDHGA11,PCDHGA12,PCDHGC3,PCDHGC3,PCDHGC4,PCDHGC5 EXON Missense_G824S,Missense_G825S,Missense_G825S,Missense_G820S,Missense_G824S,Missense_G824S,Missense_G824S,Missense_G822S,Missense_G825S,Missense_G825S,Missense_G816S,Missense_G825S,Missense_G816S,Missense_G825S,Missense_G823S,Missense_G829S,Missense_G822S,Missense_G643S,Missense_G828S,Missense_G825S,Missense_G27S,Missense_G827S,Missense_G831S,Missense_G837S exm489914 5 140890616 [A/G] NM_018912,NM_018915,NM_018916,NM_018922,NM_018917,NM_018923,NM_018918,NM_018924,NM_018919,NM_018920,NM_003736,NM_032088,NM_018925,NM_018921,NM_018926,NM_018913,NM_018927,NM_032092,NM_018914,NM_003735,NM_032403,NM_002588,NM_018928,NM_018929 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGB1,PCDHGA4,PCDHGB2,PCDHGA5,PCDHGB3,PCDHGA6,PCDHGA7,PCDHGB4,PCDHGA8,PCDHGB5,PCDHGA9,PCDHGB6,PCDHGA10,PCDHGB7,PCDHGA11,PCDHGA11,PCDHGA12,PCDHGC3,PCDHGC3,PCDHGC4,PCDHGC5 EXON Missense_R891H,Missense_R892H,Missense_R892H,Missense_R887H,Missense_R891H,Missense_R891H,Missense_R891H,Missense_R889H,Missense_R892H,Missense_R892H,Missense_R883H,Missense_R892H,Missense_R883H,Missense_R892H,Missense_R890H,Missense_R896H,Missense_R889H,Missense_R710H,Missense_R895H,Missense_R892H,Missense_R94H,Missense_R894H,Missense_R898H,Missense_R904H exm2270250 5 140902116 [T/G] NM_005219,NM_001079812 DIAPH1,DIAPH1 Silent,Silent exm489945 5 140907186 [A/C] NM_005219,NM_001079812 DIAPH1,DIAPH1 EXON Missense_F1076C,Missense_F1067C exm489960 5 140908487 [A/G] NM_005219,NM_001079812 DIAPH1,DIAPH1 EXON Missense_R934W,Missense_R925W exm489963 5 140909178 [T/C] NM_005219,NM_001079812 DIAPH1,DIAPH1 EXON Missense_M890V,Missense_M881V exm489972 5 140951529 [T/C] NM_005219,NM_001079812 DIAPH1,DIAPH1 EXON Missense_A813T,Missense_A804T exm489983 5 140953259 [A/G] NM_005219,NM_001079812 DIAPH1,DIAPH1 EXON Missense_L720F,Missense_L711F exm489984 5 140953310 [C/G] NM_005219,NM_001079812 DIAPH1,DIAPH1 EXON Missense_P703A,Missense_P694A exm2090053 5 140953385 [A/G] NM_005219,NM_001079812 DIAPH1,DIAPH1 EXON Missense_P678S,Missense_P669S exm489990 5 140953432 [T/C] NM_005219,NM_001079812 DIAPH1,DIAPH1 EXON Missense_G662D,Missense_G653D exm489992 5 140953454 [C/G] NM_005219,NM_001079812 DIAPH1,DIAPH1 EXON Missense_P655A,Missense_P646A exm490005 5 140953648 [A/C] NM_005219,NM_001079812 DIAPH1,DIAPH1 EXON Missense_G590V,Missense_G581V exm490021 5 140955835 [T/C] NM_005219,NM_001079812 DIAPH1,DIAPH1 EXON Missense_E475K,Missense_E466K exm490026 5 140956355 [T/C] NM_005219,NM_001079812 DIAPH1,DIAPH1 EXON Missense_R455Q,Missense_R446Q exm490054 5 140966692 [T/C] NM_005219,NM_001079812 DIAPH1,DIAPH1 EXON Missense_A73T,Missense_A64T exm490055 5 140966709 [A/G] NM_005219,NM_001079812 DIAPH1,DIAPH1 EXON Missense_A67V,Missense_A58V exm490063 5 141001090 [T/C] NM_003883 HDAC3 EXON Missense_N411S exm490120 5 141018407 [A/G] NM_173828,NM_001130029 RELL2,RELL2 EXON Missense_R77H,Missense_R77H exm490132 5 141019110 [A/C] NM_173828,NM_001130029,NM_033449 RELL2,RELL2,FCHSD1 EXON Missense_L133I,Missense_L133I,Silent exm490133 5 141019113 [T/C] NM_173828,NM_001130029,NM_033449 RELL2,RELL2,FCHSD1 EXON Missense_H134Y,Missense_H134Y,Silent exm490141 5 141019155 [T/C] NM_173828,NM_001130029,NM_033449 RELL2,RELL2,FCHSD1 EXON Missense_R148C,Missense_R148C,Silent exm490143 5 141019163 [T/G] NM_173828,NM_001130029,NM_033449 RELL2,RELL2,FCHSD1 EXON Missense_K150N,Missense_K150N,Silent exm490155 5 141019504 [T/C] NM_173828,NM_001130029,NM_033449 RELL2,RELL2,FCHSD1 EXON Missense_I174T,Missense_I174T,Silent exm490156 5 141019513 [A/G] NM_173828,NM_001130029,NM_033449 RELL2,RELL2,FCHSD1 EXON Missense_R177H,Missense_R177H,Silent exm490157 5 141019527 [A/G] NM_173828,NM_001130029,NM_033449 RELL2,RELL2,FCHSD1 EXON Missense_E182K,Missense_E182K,Silent exm490162 5 141019569 [C/G] NM_173828,NM_001130029,NM_033449 RELL2,RELL2,FCHSD1 EXON Missense_G196R,Missense_G196R,Silent exm490170 5 141019830 [G/C] NM_173828,NM_001130029,NM_033449 RELL2,RELL2,FCHSD1 EXON Missense_Q283E,Missense_Q283E,Silent exm490174 5 141019995 [A/G] NM_173828,NM_001130029,NM_033449 RELL2,RELL2,FCHSD1 EXON Missense_G299E,Missense_G299E,Silent exm490178 5 141021093 [T/G] NM_033449 FCHSD1 EXON Missense_D682A exm490179 5 141021096 [A/G] NM_033449 FCHSD1 EXON Missense_P681L exm490182 5 141021111 [A/G] NM_033449 FCHSD1 EXON Missense_P676L exm490183 5 141021269 [T/C] NM_033449 FCHSD1 EXON Synonymous_P669P exm490184 5 141021294 [T/G] NM_033449 FCHSD1 EXON Missense_D661A exm2090142 5 141022569 [T/C] NM_033449 FCHSD1 EXON Synonymous_G650G exm490192 5 141023817 [T/G] NM_033449 FCHSD1 EXON Missense_P611T exm490193 5 141023864 [T/C] NM_033449 FCHSD1 EXON Missense_R595H exm490197 5 141023927 [T/C] NM_033449 FCHSD1 EXON Missense_R574H exm490198 5 141023934 [A/G] NM_033449 FCHSD1 EXON Missense_L572F exm490201 5 141023973 [T/C] NM_033449 FCHSD1 EXON Missense_G559R exm490205 5 141023997 [T/C] NM_033449 FCHSD1 EXON Missense_A551T exm490207 5 141024142 [A/G] NM_033449 FCHSD1 EXON Missense_T547I exm490214 5 141024259 [T/C] NM_033449 FCHSD1 Silent exm490223 5 141025385 [A/G] NM_033449 FCHSD1 EXON Missense_R422W exm490232 5 141025730 [T/G] NM_033449 FCHSD1 EXON Missense_Q358P exm2090160 5 141025733 [T/C] NM_033449 FCHSD1 EXON Missense_R357Q exm490235 5 141026182 [T/G] NM_033449 FCHSD1 EXON Missense_N344K exm490237 5 141026223 [A/G] NM_033449 FCHSD1 EXON Missense_R331C exm490239 5 141026718 [A/G] NM_033449 FCHSD1 EXON Missense_P303L exm490251 5 141027573 [T/C] NM_033449 FCHSD1 EXON Missense_D223N exm490252 5 141027577 [T/G] NM_033449 FCHSD1 EXON Missense_H221Q exm490264 5 141028757 [A/G] NM_033449 FCHSD1 EXON Missense_A165V exm2241911 5 141028826 [T/C] NM_033449 FCHSD1 EXON Missense_R142Q exm490271 5 141028985 [T/C] NM_033449 FCHSD1 EXON Missense_A118T exm2241913 5 141029022 [T/G] NM_033449 FCHSD1 EXON Missense_D105E exm490276 5 141029036 [A/G] NM_033449 FCHSD1 EXON Missense_L101F exm490280 5 141029063 [T/C] NM_033449 FCHSD1 EXON Missense_A92T exm490296 5 141030926 [T/G] NM_033449 FCHSD1 EXON Missense_P4T exm490308 5 141033719 [T/C] NM_022481 ARAP3 EXON Missense_R1478Q exm490313 5 141033823 [A/C] NM_022481 ARAP3 EXON Missense_K1443N exm490319 5 141033870 [T/G] NM_022481 ARAP3 EXON Missense_T1428P exm490321 5 141033932 [A/G] NM_022481 ARAP3 EXON Missense_V1407A exm490327 5 141034963 [T/C] NM_022481 ARAP3 EXON Missense_R1372Q exm490336 5 141035216 [A/G] NM_022481 ARAP3 EXON Missense_A1361V exm490345 5 141035325 [A/G] NM_022481 ARAP3 EXON Missense_H1325Y exm490349 5 141035480 [T/C] NM_022481 ARAP3 EXON Missense_E1310K exm490352 5 141035765 [T/C] NM_022481 ARAP3 EXON Missense_T1290A exm490356 5 141036099 [T/C] NM_022481 ARAP3 EXON Missense_R1254H exm490365 5 141036348 [A/G] NM_022481 ARAP3 EXON Missense_P1198S exm490369 5 141038016 [T/C] NM_022481 ARAP3 EXON Missense_T1148A exm490379 5 141039402 [T/C] NM_022481 ARAP3 EXON Missense_E1071K exm490386 5 141041285 [A/G] NM_022481 ARAP3 EXON Missense_R1029C exm490387 5 141041290 [T/C] NM_022481 ARAP3 EXON Missense_N1027S exm490392 5 141041355 [T/C] NM_022481 ARAP3 EXON Synonymous_E1005E exm490398 5 141041639 [T/C] NM_022481 ARAP3 EXON Missense_R995Q exm490423 5 141044943 [T/C] NM_022481 ARAP3 Silent exm490427 5 141046035 [C/G] NM_022481 ARAP3 EXON Missense_P843R exm490433 5 141046087 [T/G] NM_022481 ARAP3 EXON Missense_L826I exm490437 5 141049314 [T/C] NM_022481 ARAP3 EXON Missense_A772T exm490439 5 141049343 [T/C] NM_022481 ARAP3 EXON Missense_G762E exm490452 5 141050892 [T/C] NM_022481 ARAP3 EXON Missense_G644S exm490459 5 141051274 [T/C] NM_022481 ARAP3 EXON Missense_G573R exm490471 5 141051758 [T/C] NM_022481 ARAP3 EXON Missense_R499Q exm490484 5 141052386 [T/C] NM_022481 ARAP3 EXON Missense_M400I exm490485 5 141052393 [A/G] NM_022481 ARAP3 EXON Missense_T398M exm490500 5 141052664 [T/C] NM_022481 ARAP3 EXON Missense_I337V exm490509 5 141052986 [T/C] NM_022481 ARAP3 EXON Missense_M318I exm490511 5 141053220 [T/C] NM_022481 ARAP3 EXON Missense_R285H exm490513 5 141053229 [A/G] NM_022481 ARAP3 EXON Missense_T282M exm490515 5 141053268 [C/G] NM_022481 ARAP3 EXON Missense_S269T exm490523 5 141059146 [T/C] NM_022481 ARAP3 EXON Missense_S222G exm490524 5 141059158 [C/G] NM_022481 ARAP3 EXON Missense_D218H exm490531 5 141059357 [G/C] NM_022481 ARAP3 EXON Missense_T186S exm490532 5 141059360 [T/G] NM_022481 ARAP3 EXON Missense_P185H exm490538 5 141059570 [T/C] NM_022481 ARAP3 EXON Missense_G162S exm2256996 5 141059868 [T/C] NM_022481 ARAP3 EXON Synonymous_L62L exm490568 5 141059945 [A/G] NM_022481 ARAP3 EXON Missense_R37W exm2270141 5 141080897 [T/C] exm2090272 5 141233707 [A/G] NM_032420 PCDH1 EXON Missense_S1205L exm490586 5 141233893 [T/C] NM_032420 PCDH1 EXON Missense_R1143H exm490593 5 141233971 [A/G] NM_032420 PCDH1 EXON Missense_T1117I exm490604 5 141242750 [A/G] NM_032420,NM_002587 PCDH1,PCDH1 EXON Silent,Missense_P1049L exm490605 5 141242768 [A/G] NM_032420,NM_002587 PCDH1,PCDH1 EXON Silent,Missense_P1043L exm490623 5 141243141 [A/G] NM_032420,NM_002587 PCDH1,PCDH1 EXON Missense_P919S,Missense_P919S exm490624 5 141243189 [T/C] NM_032420,NM_002587 PCDH1,PCDH1 EXON Missense_G903S,Missense_G903S exm490638 5 141243507 [A/G] NM_032420,NM_002587 PCDH1,PCDH1 EXON Missense_R797C,Missense_R797C exm490646 5 141243704 [T/C] NM_032420,NM_002587 PCDH1,PCDH1 EXON Missense_R731H,Missense_R731H exm490648 5 141243762 [T/C] NM_032420,NM_002587 PCDH1,PCDH1 EXON Missense_A712T,Missense_A712T exm490656 5 141244093 [A/C] NM_032420,NM_002587 PCDH1,PCDH1 EXON Missense_N601K,Missense_N601K exm490664 5 141244356 [T/C] NM_032420,NM_002587 PCDH1,PCDH1 EXON Missense_A514T,Missense_A514T exm490676 5 141244811 [T/C] NM_032420,NM_002587 PCDH1,PCDH1 EXON Missense_R362Q,Missense_R362Q exm490677 5 141244850 [T/C] NM_032420,NM_002587 PCDH1,PCDH1 EXON Missense_D349G,Missense_D349G exm2256997 5 141244864 [T/C] NM_032420,NM_002587 PCDH1,PCDH1 EXON Synonymous_P344P,Synonymous_P344P exm490691 5 141248208 [T/C] NM_032420,NM_002587 PCDH1,PCDH1 EXON Missense_A277T,Missense_A277T exm490705 5 141248529 [A/G] NM_032420,NM_002587 PCDH1,PCDH1 EXON Missense_S170P,Missense_S170P exm490711 5 141248675 [T/C] NM_032420,NM_002587 PCDH1,PCDH1 EXON Missense_R121H,Missense_R121H exm490720 5 141248913 [A/T] NM_032420,NM_002587 PCDH1,PCDH1 EXON Missense_M42L,Missense_M42L exm490724 5 141248963 [T/G] NM_032420,NM_002587 PCDH1,PCDH1 EXON Missense_H25P,Missense_H25P exm490726 5 141248994 [A/G] NM_032420,NM_002587 PCDH1,PCDH1 EXON Missense_L15F,Missense_L15F exm490735 5 141304176 [A/G] NM_014773,NM_001142603 KIAA0141,KIAA0141 EXON Nonsense_W21X,Nonsense_W21X exm490738 5 141304248 [T/C] NM_014773,NM_001142603 KIAA0141,KIAA0141 EXON Missense_P45L,Missense_P45L exm490741 5 141304989 [A/G] NM_014773,NM_001142603 KIAA0141,KIAA0141 EXON Missense_G54D,Missense_G54D exm490744 5 141305007 [A/G] NM_014773,NM_001142603 KIAA0141,KIAA0141 EXON Missense_G60D,Missense_G60D exm490754 5 141307749 [A/G] NM_014773,NM_001142603 KIAA0141,KIAA0141 EXON Missense_R100G,Missense_R100G exm490756 5 141307827 [T/C] NM_014773,NM_001142603 KIAA0141,KIAA0141 EXON Missense_R126C,Missense_R126C exm490757 5 141307833 [T/C] NM_014773,NM_001142603 KIAA0141,KIAA0141 EXON Missense_F128L,Missense_F128L exm490760 5 141309152 [T/C] NM_014773,NM_001142603 KIAA0141,KIAA0141 EXON Nonsense_R140X,Nonsense_R140X exm490766 5 141309209 [A/G] NM_014773,NM_001142603 KIAA0141,KIAA0141 EXON Missense_E159K,Missense_E159K exm490767 5 141309215 [A/G] NM_014773,NM_001142603 KIAA0141,KIAA0141 EXON Missense_R161G,Missense_R161G exm490784 5 141309741 [A/G] NM_014773,NM_001142603 KIAA0141,KIAA0141 Silent,Silent exm490788 5 141309788 [T/C] NM_014773,NM_001142603 KIAA0141,KIAA0141 EXON Missense_S235P,Missense_S235P exm490791 5 141309824 [A/G] NM_014773,NM_001142603 KIAA0141,KIAA0141 EXON Missense_A247T,Missense_A247T exm490797 5 141312952 [A/G] NM_014773,NM_001142603 KIAA0141,KIAA0141 EXON Missense_R295G,Missense_R295G exm490804 5 141313896 [T/C] NM_014773,NM_001142603 KIAA0141,KIAA0141 EXON Missense_S330L,Missense_S330L exm490806 5 141313920 [T/C] NM_014773,NM_001142603 KIAA0141,KIAA0141 EXON Missense_A338V,Missense_A338V exm490807 5 141313947 [A/C] NM_014773,NM_001142603 KIAA0141,KIAA0141 EXON Missense_D347A,Missense_D347A exm490808 5 141314058 [A/G] NM_014773,NM_001142603 KIAA0141,KIAA0141 Silent,Silent exm490816 5 141316862 [A/G] NM_014773,NM_001142603 KIAA0141,KIAA0141 EXON Missense_A417T,Missense_A417T exm490822 5 141318140 [C/G] NM_014773,NM_001142603 KIAA0141,KIAA0141 EXON Missense_S455C,Missense_S455C exm490828 5 141318178 [T/C] NM_014773,NM_001142603 KIAA0141,KIAA0141 EXON Missense_R468C,Missense_R468C exm2256998 5 141318216 [T/C] NM_014773,NM_001142603 KIAA0141,KIAA0141 EXON Synonymous_L480L,Synonymous_L480L exm490833 5 141318216 [T/C] NM_014773,NM_001142603 KIAA0141,KIAA0141 EXON Synonymous_L480L,Synonymous_L480L exm490842 5 141324954 [T/A] NM_016580 PCDH12 EXON Missense_C1183S exm490843 5 141324955 [C/G] NM_016580 PCDH12 EXON Missense_R1182S exm490844 5 141324966 [T/C] NM_016580 PCDH12 EXON Missense_S1179G exm490855 5 141325097 [A/G] NM_016580 PCDH12 EXON Missense_A1135V exm490856 5 141325147 [C/G] NM_016580 PCDH12 EXON Missense_E1118D exm2256999 5 141325249 [T/C] NM_016580 PCDH12 EXON Synonymous_P1084P exm490865 5 141325250 [A/G] NM_016580 PCDH12 EXON Missense_P1084L exm2090343 5 141325257 [C/G] NM_016580 PCDH12 EXON Missense_E1082Q exm490869 5 141325280 [A/G] NM_016580 PCDH12 EXON Missense_I1074T exm490878 5 141329059 [T/G] NM_016580 PCDH12 EXON Missense_E1023A exm490883 5 141331098 [A/G] NM_016580 PCDH12 EXON Missense_H980Y exm490888 5 141334572 [T/C] NM_016580 PCDH12 EXON Missense_V949M exm490899 5 141334721 [A/G] NM_016580 PCDH12 EXON Missense_A899V exm2090350 5 141334760 [A/G] NM_016580 PCDH12 EXON Missense_P886L exm490900 5 141334782 [C/G] NM_016580 PCDH12 EXON Missense_P879A exm490903 5 141334838 [T/C] NM_016580 PCDH12 EXON Missense_R860Q exm2257000 5 141334921 [T/C] NM_016580 PCDH12 EXON Synonymous_Q832Q exm490912 5 141335043 [T/C] NM_016580 PCDH12 EXON Missense_G792R exm490914 5 141335085 [T/C] NM_016580 PCDH12 EXON Missense_V778M exm490918 5 141335157 [T/C] NM_016580 PCDH12 EXON Missense_E754K exm490923 5 141335264 [A/G] NM_016580 PCDH12 EXON Missense_T718M exm490932 5 141335387 [A/G] NM_016580 PCDH12 EXON Missense_V677A exm490935 5 141335417 [A/G] NM_016580 PCDH12 EXON Missense_I667T exm490938 5 141335498 [T/C] NM_016580 PCDH12 EXON Missense_S640N exm490941 5 141335594 [A/G] NM_016580 PCDH12 EXON Missense_L608P exm490944 5 141335682 [T/C] NM_016580 PCDH12 EXON Missense_V579M exm490955 5 141335964 [A/G] NM_016580 PCDH12 EXON Missense_H485Y exm490960 5 141336115 [T/G] NM_016580 PCDH12 EXON Missense_D434E exm490967 5 141336235 [T/G] NM_016580 PCDH12 EXON Missense_S394R exm490969 5 141336264 [T/G] NM_016580 PCDH12 EXON Missense_H385N exm490971 5 141336318 [A/G] NM_016580 PCDH12 EXON Missense_L367F exm490983 5 141336567 [T/C] NM_016580 PCDH12 EXON Missense_S284G exm490984 5 141336581 [A/G] NM_016580 PCDH12 EXON Missense_V279A exm490986 5 141336590 [T/C] NM_016580 PCDH12 EXON Missense_N276S exm490988 5 141336635 [A/G] NM_016580 PCDH12 EXON Missense_T261M exm490995 5 141336858 [T/C] NM_016580 PCDH12 EXON Missense_G187S exm490998 5 141336965 [T/C] NM_016580 PCDH12 EXON Missense_R151Q exm491000 5 141337002 [T/C] NM_016580 PCDH12 EXON Missense_E139K exm491003 5 141337038 [C/G] NM_016580 PCDH12 EXON Missense_D127H exm491008 5 141337145 [T/C] NM_016580 PCDH12 EXON Missense_R91Q exm491012 5 141337176 [A/G] NM_016580 PCDH12 EXON Missense_S81P exm491013 5 141337177 [C/G] NM_016580 PCDH12 EXON Missense_D80E exm491018 5 141337253 [T/C] NM_016580 PCDH12 EXON Missense_R55Q exm2090362 5 141337254 [C/G] NM_016580 PCDH12 EXON Missense_R55G exm491020 5 141337265 [T/C] NM_016580 PCDH12 EXON Missense_Q51R exm491032 5 141354386 [T/C] NM_183399,NM_001201365,NM_183398,NM_183400,NM_004290,NM_183401 RNF14,RNF14,RNF14,RNF14,RNF14,RNF14 EXON Missense_L58F,Missense_L58F,Silent,Missense_L58F,Missense_L58F,Missense_L58F exm491036 5 141357913 [T/C] NM_183399,NM_001201365,NM_183398,NM_183400,NM_004290,NM_183401 RNF14,RNF14,RNF14,RNF14,RNF14,RNF14 EXON Missense_R118C,Missense_R118C,Silent,Missense_R118C,Missense_R118C,Missense_R118C exm491037 5 141358022 [T/C] NM_183399,NM_001201365,NM_183398,NM_183400,NM_004290,NM_183401 RNF14,RNF14,RNF14,RNF14,RNF14,RNF14 EXON Missense_V154A,Missense_V154A,Missense_V28A,Missense_V154A,Missense_V154A,Missense_V154A exm491038 5 141358061 [T/G] NM_183399,NM_001201365,NM_183398,NM_183400,NM_004290,NM_183401 RNF14,RNF14,RNF14,RNF14,RNF14,RNF14 EXON Missense_L167R,Missense_L167R,Missense_L41R,Missense_L167R,Missense_L167R,Missense_L167R exm491046 5 141358390 [A/G] NM_183399,NM_001201365,NM_183398,NM_183400,NM_004290,NM_183401 RNF14,RNF14,RNF14,RNF14,RNF14,RNF14 EXON Missense_G277S,Missense_G277S,Missense_G151S,Missense_G277S,Missense_G277S,Missense_G277S exm491059 5 141364471 [A/G] NM_183399,NM_001201365,NM_183398,NM_183400,NM_004290,NM_183401 RNF14,RNF14,RNF14,RNF14,RNF14,RNF14 EXON Missense_N447S,Missense_N447S,Missense_N321S,Missense_N447S,Missense_N447S,Missense_N447S exm491062 5 141367344 [G/C] NM_183399,NM_001201365,NM_183398,NM_183400,NM_004290,NM_183401 RNF14,RNF14,RNF14,RNF14,RNF14,RNF14 EXON Missense_V472L,Missense_V472L,Missense_V346L,Missense_V472L,Missense_V472L,Missense_V472L exm2241930 5 141381616 [A/G] NM_005471 GNPDA1 EXON Missense_S283L exm491068 5 141382667 [A/G] NM_005471 GNPDA1 EXON Missense_V252A exm491073 5 141382775 [A/G] NM_005471 GNPDA1 EXON Missense_I216T exm491111 5 141511383 [T/A] NM_030571 NDFIP1 EXON Missense_E25V exm491114 5 141511459 [A/C] NM_030571 NDFIP1 EXON Synonymous_A50A exm-rs9324871 5 141555515 [A/G] exm2257001 5 141573265 [A/G] exm-rs4624820 5 141681788 [A/G] exm491135 5 141693833 [T/C] NM_001127496,NM_030964 SPRY4,SPRY4 EXON Missense_V281I,Missense_V304I exm491139 5 141693902 [T/C] NM_001127496,NM_030964 SPRY4,SPRY4 EXON Missense_V258M,Missense_V281M exm491146 5 141694021 [T/G] NM_001127496,NM_030964 SPRY4,SPRY4 EXON Missense_S218Y,Missense_S241Y exm491151 5 141694117 [T/C] NM_001127496,NM_030964 SPRY4,SPRY4 EXON Missense_C186Y,Missense_C209Y exm491162 5 141694213 [T/C] NM_001127496,NM_030964 SPRY4,SPRY4 EXON Missense_K154R,Missense_K177R exm491166 5 141694237 [A/G] NM_001127496,NM_030964 SPRY4,SPRY4 EXON Missense_P146L,Missense_P169L exm491181 5 141694586 [A/G] NM_001127496,NM_030964 SPRY4,SPRY4 EXON Missense_R30W,Missense_R53W exm491187 5 141694649 [T/C] NM_001127496,NM_030964 SPRY4,SPRY4 EXON Missense_A9T,Missense_A32T exm-rs17577085 5 141863604 [T/G] exm491201 5 141974913 [T/C] NM_001257208,NM_033137,NM_001257205,NM_001144892,NM_001257206,NM_001144934,NM_001257207,NM_000800,NM_001257212,NM_001257210,NM_001257211,NM_001144935,NM_001257209,NM_033136 FGF1,FGF1,FGF1,FGF1,FGF1,FGF1,FGF1,FGF1,FGF1,FGF1,FGF1,FGF1,FGF1,FGF1 EXON Missense_R137Q,Silent,Missense_R137Q,Missense_R137Q,Missense_R136Q,Missense_R137Q,Missense_R137Q,Missense_R137Q,Missense_R136Q,Missense_R137Q,Missense_R136Q,Missense_R137Q,Missense_R137Q,Silent exm491214 5 141980317 [T/C] NM_001257208,NM_033137,NM_001257205,NM_001144892,NM_001257206,NM_001144934,NM_001257207,NM_000800,NM_001257212,NM_001257210,NM_001257211,NM_001144935,NM_001257209,NM_033136 FGF1,FGF1,FGF1,FGF1,FGF1,FGF1,FGF1,FGF1,FGF1,FGF1,FGF1,FGF1,FGF1,FGF1 EXON Missense_E75K,Silent,Missense_E75K,Missense_E75K,Missense_E75K,Missense_E75K,Missense_E75K,Missense_E75K,Missense_E75K,Missense_E75K,Missense_E75K,Missense_E75K,Missense_E75K,Silent exm491220 5 141993631 [T/C] NM_001257208,NM_033137,NM_001257205,NM_001144892,NM_001257206,NM_001144934,NM_001257207,NM_000800,NM_001257212,NM_001257210,NM_001257211,NM_001144935,NM_001257209,NM_033136 FGF1,FGF1,FGF1,FGF1,FGF1,FGF1,FGF1,FGF1,FGF1,FGF1,FGF1,FGF1,FGF1,FGF1 EXON Missense_G21E,Missense_G21E,Missense_G21E,Missense_G21E,Missense_G21E,Missense_G21E,Missense_G21E,Missense_G21E,Missense_G21E,Missense_G21E,Missense_G21E,Missense_G21E,Missense_G21E,Missense_G21E exm2270142 5 142008525 [T/C] NM_001257208,NM_001257205,NM_001257206,NM_001144934,NM_001257207,NM_000800,NM_001257210,NM_001257211,NM_001144935,NM_001257209,NM_033136 FGF1,FGF1,FGF1,FGF1,FGF1,FGF1,FGF1,FGF1,FGF1,FGF1,FGF1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm-rs152528 5 142017860 [T/C] NM_001257208,NM_001257205,NM_001257206,NM_001144934,NM_001257207,NM_000800,NM_001257210,NM_001257211,NM_001144935,NM_001257209,NM_033136 FGF1,FGF1,FGF1,FGF1,FGF1,FGF1,FGF1,FGF1,FGF1,FGF1,FGF1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm2270251 5 142125177 [T/C] exm491231 5 142252977 [T/C] NM_015071,NM_001135608 ARHGAP26,ARHGAP26 EXON Missense_A56V,Missense_A56V exm491259 5 142311690 [T/C] NM_015071,NM_001135608 ARHGAP26,ARHGAP26 EXON Synonymous_P369P,Synonymous_P369P exm2270252 5 142414681 [T/C] NM_015071,NM_001135608 ARHGAP26,ARHGAP26 Silent,Silent exm-rs3776331 5 142441794 [T/C] NM_015071,NM_001135608 ARHGAP26,ARHGAP26 Silent,Silent exm491283 5 142500683 [A/G] NM_015071,NM_001135608 ARHGAP26,ARHGAP26 EXON Missense_I557V,Missense_I557V exm491298 5 142513652 [A/G] NM_015071,NM_001135608 ARHGAP26,ARHGAP26 EXON Missense_V607I,Missense_V607I exm2257003 5 142550251 [A/G] NM_015071,NM_001135608 ARHGAP26,ARHGAP26 Silent,Silent exm491315 5 142593652 [T/C] NM_015071,NM_001135608 ARHGAP26,ARHGAP26 EXON Synonymous_N785N,Synonymous_N730N exm491363 5 142779317 [T/C] NM_001020825,NM_001204258,NM_001204262,NM_001204259,NM_001018075,NM_001204263,NM_001018076,NM_001024094,NM_001204264,NM_001204261,NM_001018077,NM_001018074,NM_001204260,NM_000176,NM_001204265 NR3C1,NR3C1,NR3C1,NR3C1,NR3C1,NR3C1,NR3C1,NR3C1,NR3C1,NR3C1,NR3C1,NR3C1,NR3C1,NR3C1,NR3C1 EXON Missense_N363S,Missense_N337S,Missense_N48S,Missense_N278S,Missense_N363S,Missense_N33S,Missense_N363S,Missense_N363S,Missense_N28S,Missense_N266S,Missense_N363S,Missense_N363S,Missense_N274S,Missense_N363S,Missense_N363S exm491374 5 142779720 [T/C] NM_001020825,NM_001204258,NM_001204262,NM_001204259,NM_001018075,NM_001204263,NM_001018076,NM_001024094,NM_001204264,NM_001204261,NM_001018077,NM_001018074,NM_001204260,NM_000176,NM_001204265 NR3C1,NR3C1,NR3C1,NR3C1,NR3C1,NR3C1,NR3C1,NR3C1,NR3C1,NR3C1,NR3C1,NR3C1,NR3C1,NR3C1,NR3C1 EXON Missense_A229T,Missense_A203T,Silent,Missense_A144T,Missense_A229T,Silent,Missense_A229T,Missense_A229T,Silent,Missense_A132T,Missense_A229T,Missense_A229T,Missense_A140T,Missense_A229T,Missense_A229T exm491382 5 142780139 [T/C] NM_001020825,NM_001204258,NM_001204262,NM_001204259,NM_001018075,NM_001204263,NM_001018076,NM_001024094,NM_001204264,NM_001204261,NM_001018077,NM_001018074,NM_001204260,NM_000176,NM_001204265 NR3C1,NR3C1,NR3C1,NR3C1,NR3C1,NR3C1,NR3C1,NR3C1,NR3C1,NR3C1,NR3C1,NR3C1,NR3C1,NR3C1,NR3C1 EXON Missense_Y89C,Missense_Y63C,Silent,Missense_Y4C,Missense_Y89C,Silent,Missense_Y89C,Missense_Y89C,Silent,Silent,Missense_Y89C,Missense_Y89C,Silent,Missense_Y89C,Missense_Y89C exm491385 5 142780212 [A/C] NM_001020825,NM_001204258,NM_001204262,NM_001204259,NM_001018075,NM_001204263,NM_001018076,NM_001024094,NM_001204264,NM_001204261,NM_001018077,NM_001018074,NM_001204260,NM_000176,NM_001204265 NR3C1,NR3C1,NR3C1,NR3C1,NR3C1,NR3C1,NR3C1,NR3C1,NR3C1,NR3C1,NR3C1,NR3C1,NR3C1,NR3C1,NR3C1 EXON Missense_F65V,Missense_F39V,Silent,Silent,Missense_F65V,Silent,Missense_F65V,Missense_F65V,Silent,Silent,Missense_F65V,Missense_F65V,Silent,Missense_F65V,Missense_F65V exm491390 5 142780317 [A/G] NM_001020825,NM_001204258,NM_001204262,NM_001204259,NM_001018075,NM_001204263,NM_001018076,NM_001024094,NM_001204264,NM_001204261,NM_001018077,NM_001018074,NM_001204260,NM_000176,NM_001204265 NR3C1,NR3C1,NR3C1,NR3C1,NR3C1,NR3C1,NR3C1,NR3C1,NR3C1,NR3C1,NR3C1,NR3C1,NR3C1,NR3C1,NR3C1 EXON Missense_Y30H,Missense_Y4H,Silent,Silent,Missense_Y30H,Silent,Missense_Y30H,Missense_Y30H,Silent,Silent,Missense_Y30H,Missense_Y30H,Silent,Missense_Y30H,Missense_Y30H exm491391 5 142780318 [C/G] NM_001020825,NM_001204258,NM_001204262,NM_001204259,NM_001018075,NM_001204263,NM_001018076,NM_001024094,NM_001204264,NM_001204261,NM_001018077,NM_001018074,NM_001204260,NM_000176,NM_001204265 NR3C1,NR3C1,NR3C1,NR3C1,NR3C1,NR3C1,NR3C1,NR3C1,NR3C1,NR3C1,NR3C1,NR3C1,NR3C1,NR3C1,NR3C1 EXON Missense_F29L,Missense_F3L,Silent,Silent,Missense_F29L,Silent,Missense_F29L,Missense_F29L,Silent,Silent,Missense_F29L,Missense_F29L,Silent,Missense_F29L,Missense_F29L exm491392 5 142780337 [T/C] NM_001020825,NM_001204258,NM_001204262,NM_001204259,NM_001018075,NM_001204263,NM_001018076,NM_001024094,NM_001204264,NM_001204261,NM_001018077,NM_001018074,NM_001204260,NM_000176,NM_001204265 NR3C1,NR3C1,NR3C1,NR3C1,NR3C1,NR3C1,NR3C1,NR3C1,NR3C1,NR3C1,NR3C1,NR3C1,NR3C1,NR3C1,NR3C1 EXON Missense_R23K,Silent,Silent,Silent,Missense_R23K,Silent,Missense_R23K,Missense_R23K,Silent,Silent,Missense_R23K,Missense_R23K,Silent,Missense_R23K,Missense_R23K exm491395 5 142780380 [A/G] NM_001020825,NM_001204258,NM_001204262,NM_001204259,NM_001018075,NM_001204263,NM_001018076,NM_001024094,NM_001204264,NM_001204261,NM_001018077,NM_001018074,NM_001204260,NM_000176,NM_001204265 NR3C1,NR3C1,NR3C1,NR3C1,NR3C1,NR3C1,NR3C1,NR3C1,NR3C1,NR3C1,NR3C1,NR3C1,NR3C1,NR3C1,NR3C1 EXON Missense_P9S,Silent,Silent,Silent,Missense_P9S,Silent,Missense_P9S,Missense_P9S,Silent,Silent,Missense_P9S,Missense_P9S,Silent,Missense_P9S,Missense_P9S exm2275284 5 142814865 [T/C] NM_001018075,NM_001018077,NM_001018074 NR3C1,NR3C1,NR3C1 EXON Silent,Silent,Silent exm491399 5 143200053 [T/C] NM_021182 HMHB1 EXON Missense_H16Y exm491401 5 143200066 [T/C] NM_021182 HMHB1 EXON Missense_S20L exm2266017 5 143225966 [A/G] exm2264154 5 143467421 [A/C] exm491411 5 143539969 [T/C] NM_001271732,NM_030799,NM_001024947 YIPF5,YIPF5,YIPF5 EXON Missense_V202I,Missense_V256I,Missense_V256I exm491414 5 143540080 [A/C] NM_001271732,NM_030799,NM_001024947 YIPF5,YIPF5,YIPF5 EXON Missense_C165G,Missense_C219G,Missense_C219G exm491422 5 143543713 [T/C] NM_001271732,NM_030799,NM_001024947 YIPF5,YIPF5,YIPF5 EXON Missense_M77V,Missense_M131V,Missense_M131V exm491423 5 143543740 [T/C] NM_001271732,NM_030799,NM_001024947 YIPF5,YIPF5,YIPF5 EXON Missense_M68V,Missense_M122V,Missense_M122V exm491426 5 143544997 [T/A] NM_001271732,NM_030799,NM_001024947 YIPF5,YIPF5,YIPF5 EXON Missense_E40D,Missense_E94D,Missense_E94D exm491428 5 143545052 [A/G] NM_001271732,NM_030799,NM_001024947 YIPF5,YIPF5,YIPF5 EXON Missense_A22V,Missense_A76V,Missense_A76V exm491431 5 143545089 [T/C] NM_001271732,NM_030799,NM_001024947 YIPF5,YIPF5,YIPF5 EXON Missense_G10R,Missense_G64R,Missense_G64R exm491435 5 143545150 [C/G] NM_001271732,NM_030799,NM_001024947 YIPF5,YIPF5,YIPF5 EXON Silent,Missense_D43E,Missense_D43E exm491442 5 143549496 [G/C] NM_001271732,NM_030799,NM_001024947 YIPF5,YIPF5,YIPF5 EXON Silent,Missense_N8K,Missense_N8K exm2270143 5 143570841 [T/C] NM_020768 KCTD16 Silent exm491450 5 143586459 [T/C] NM_020768 KCTD16 EXON Missense_T61M exm2257006 5 143586682 [T/C] NM_020768 KCTD16 EXON Synonymous_C135C exm491461 5 143586755 [A/G] NM_020768 KCTD16 EXON Missense_D160N exm491466 5 143587022 [A/G] NM_020768 KCTD16 EXON Missense_A249T exm491468 5 143587052 [A/G] NM_020768 KCTD16 EXON Missense_I259V exm491483 5 143853469 [A/G] NM_020768 KCTD16 EXON Missense_R360Q exm491491 5 143853561 [A/G] NM_020768 KCTD16 EXON Missense_I391V exm2264134 5 144136931 [A/C] exm2270144 5 144528984 [T/C] exm2270253 5 144625079 [T/C] exm491517 5 145197565 [T/C] NM_205846,NM_138492,NM_182960 PRELID2,PRELID2,PRELID2 EXON Missense_N87S,Missense_N58S,Missense_N99S exm491525 5 145199531 [T/C] NM_205846,NM_138492,NM_182960 PRELID2,PRELID2,PRELID2 EXON Missense_V62M,Missense_V33M,Missense_V62M exm491526 5 145199581 [T/C] NM_205846,NM_138492,NM_182960 PRELID2,PRELID2,PRELID2 EXON Missense_D45G,Missense_D16G,Missense_D45G exm2266127 5 145215872 [A/G] exm491554 5 145246085 [T/G] NM_001080516 GRXCR2 EXON Missense_L181F exm491561 5 145246275 [T/C] NM_001080516 GRXCR2 EXON Missense_D118G exm491562 5 145252227 [T/C] NM_001080516 GRXCR2 EXON Missense_R102Q exm491564 5 145252239 [T/C] NM_001080516 GRXCR2 EXON Missense_G98D exm491565 5 145252240 [A/C] NM_001080516 GRXCR2 EXON Missense_G98C exm491568 5 145252312 [C/G] NM_001080516 GRXCR2 EXON Missense_Q74E exm491569 5 145252350 [A/C] NM_001080516 GRXCR2 EXON Missense_M61R exm491572 5 145252377 [T/C] NM_001080516 GRXCR2 EXON Missense_S52N exm491573 5 145252378 [T/C] NM_001080516 GRXCR2 EXON Missense_S52G exm491575 5 145252404 [T/C] NM_001080516 GRXCR2 EXON Missense_E43G exm2266018 5 145270339 [A/G] exm-rs4913050 5 145282109 [A/C] exm491586 5 145317535 [A/G] NM_152550 SH3RF2 EXON Missense_C15Y exm491588 5 145317541 [A/G] NM_152550 SH3RF2 EXON Missense_E17G exm491593 5 145317670 [T/C] NM_152550 SH3RF2 EXON Missense_I60T exm491595 5 145317685 [T/C] NM_152550 SH3RF2 EXON Missense_A65V exm491605 5 145317867 [A/G] NM_152550 SH3RF2 EXON Missense_G126R exm491617 5 145379762 [T/G] NM_152550 SH3RF2 EXON Missense_F174V exm491624 5 145379844 [A/G] NM_152550 SH3RF2 EXON Missense_R201Q exm491626 5 145379852 [A/G] NM_152550 SH3RF2 EXON Missense_D204N exm2090795 5 145383627 [A/G] NM_152550 SH3RF2 EXON Missense_I219V exm491638 5 145393364 [T/C] NM_152550 SH3RF2 EXON Missense_R267C exm491642 5 145393493 [T/C] NM_152550 SH3RF2 EXON Missense_R310W exm491643 5 145393494 [A/G] NM_152550 SH3RF2 EXON Missense_R310Q exm491654 5 145427420 [T/C] NM_152550 SH3RF2 EXON Missense_A382V exm491658 5 145428677 [T/G] NM_152550 SH3RF2 EXON Missense_D397E exm491663 5 145428747 [A/G] NM_152550 SH3RF2 EXON Missense_V421I exm491667 5 145428783 [A/G] NM_152550 SH3RF2 EXON Missense_N433D exm2090809 5 145435570 [A/G] NM_152550 SH3RF2 EXON Missense_R450Q exm491677 5 145435651 [A/G] NM_152550 SH3RF2 EXON Missense_R477Q exm491686 5 145435759 [A/G] NM_152550 SH3RF2 EXON Missense_R513Q exm491688 5 145439455 [T/C] NM_152550 SH3RF2 EXON Missense_S528P exm491692 5 145439485 [T/C] NM_152550 SH3RF2 EXON Missense_L538F exm491699 5 145439627 [T/C] NM_152550 SH3RF2 EXON Missense_I585T exm491701 5 145439647 [T/C] NM_152550 SH3RF2 EXON Missense_W592R exm2090817 5 145439648 [A/G] NM_152550 SH3RF2 EXON Nonsense_W592X exm491703 5 145439660 [T/C] NM_152550 SH3RF2 EXON Missense_A596V exm491712 5 145442133 [A/G] NM_152550 SH3RF2 EXON Missense_V687I exm491713 5 145442149 [A/G] NM_152550 SH3RF2 EXON Missense_R692Q exm491722 5 145464015 [T/C] NM_001029869 PLAC8L1 EXON Missense_T172A exm491727 5 145464081 [A/G] NM_001029869 PLAC8L1 EXON Missense_C150R exm491738 5 145465146 [A/G] NM_001029869 PLAC8L1 EXON Missense_F91L exm491740 5 145477767 [T/C] NM_001029869 PLAC8L1 EXON Missense_G70R exm491741 5 145477782 [T/C] NM_001029869 PLAC8L1 EXON Missense_I65V exm491747 5 145477855 [T/C] NM_001029869 PLAC8L1 EXON Synonymous_R40R exm491750 5 145483756 [T/C] NM_001029869 PLAC8L1 EXON Missense_R40K exm491754 5 145483790 [A/T] NM_001029869 PLAC8L1 EXON Missense_S29T exm491764 5 145493737 [T/C] NM_020117 LARS EXON Missense_K1155E exm491772 5 145499963 [T/C] NM_020117 LARS EXON Missense_R1099H exm491774 5 145499996 [T/C] NM_020117 LARS EXON Missense_R1088K exm491781 5 145502114 [T/C] NM_020117 LARS EXON Missense_E1045K exm491786 5 145503564 [T/C] NM_020117 LARS EXON Missense_Y1026C exm491796 5 145508249 [A/G] NM_020117 LARS EXON Missense_R956C exm491802 5 145508347 [T/C] NM_020117 LARS Silent exm491805 5 145508576 [A/G] NM_020117 LARS EXON Nonsense_R912X exm491807 5 145508608 [T/C] NM_020117 LARS EXON Missense_Y901C exm491808 5 145508636 [T/C] NM_020117 LARS EXON Missense_N892D exm491813 5 145508644 [T/C] NM_020117 LARS EXON Missense_G889D exm491819 5 145509631 [T/C] NM_020117 LARS EXON Missense_A860T exm491847 5 145519821 [A/G] NM_020117 LARS EXON Synonymous_D698D exm2257013 5 145519821 [A/G] NM_020117 LARS EXON Synonymous_D698D exm491848 5 145522465 [T/C] NM_020117 LARS EXON Missense_Y687C exm491875 5 145529187 [T/C] NM_020117 LARS EXON Missense_A501T exm491882 5 145531481 [A/G] NM_020117 LARS EXON Missense_R457W exm491886 5 145531558 [A/T] NM_020117 LARS EXON Missense_V431D exm2090870 5 145537108 [T/C] NM_020117 LARS EXON Missense_R308H exm491901 5 145537315 [A/C] NM_020117 LARS EXON Missense_L272R exm491911 5 145543902 [T/C] NM_020117 LARS EXON Missense_I189V exm491917 5 145547696 [T/C] NM_020117 LARS EXON Missense_K143E exm491921 5 145547800 [A/G] NM_020117 LARS EXON Missense_I108T exm491927 5 145551522 [T/C] NM_020117 LARS EXON Missense_K82R exm2274103 5 145557204 [T/C] NM_020117 LARS EXON Missense_D11N exm491965 5 145610218 [A/C] NM_018989 RBM27 Silent exm491983 5 145613243 [A/T] NM_018989 RBM27 EXON Missense_M361L exm491999 5 145638041 [T/C] NM_018989 RBM27 EXON Missense_P542S exm492000 5 145638056 [A/G] NM_018989 RBM27 EXON Missense_I547V exm492034 5 145651122 [A/G] NM_018989 RBM27 EXON Missense_R958H exm492038 5 145664215 [T/C] NM_018989 RBM27 EXON Missense_R1007C exm492049 5 145718778 [T/C] NM_002700 POU4F3 EXON Missense_C35R exm492050 5 145719112 [T/C] NM_002700 POU4F3 EXON Missense_L41P exm492054 5 145719220 [A/G] NM_002700 POU4F3 EXON Missense_D77G exm492066 5 145719393 [T/C] NM_002700 POU4F3 EXON Missense_P135S exm492068 5 145719411 [A/C] NM_002700 POU4F3 EXON Missense_P141T exm492079 5 145719503 [A/C] NM_002700 POU4F3 EXON Missense_S171R exm492094 5 145719938 [C/G] NM_002700 POU4F3 EXON Missense_N316K exm492104 5 145834635 [A/G] NM_006706,NM_001040006 TCERG1,TCERG1 EXON Missense_A26T,Missense_A26T exm492109 5 145834783 [A/G] NM_006706,NM_001040006 TCERG1,TCERG1 EXON Missense_N75S,Missense_N75S exm492110 5 145834796 [A/G] NM_006706,NM_001040006 TCERG1,TCERG1 EXON Missense_M79I,Missense_M79I exm492111 5 145836746 [A/C] NM_006706,NM_001040006 TCERG1,TCERG1 EXON Synonymous_R96R,Synonymous_R96R exm492162 5 145843207 [T/C] NM_006706,NM_001040006 TCERG1,TCERG1 EXON Missense_V329A,Missense_V329A exm492178 5 145850265 [T/C] NM_006706,NM_001040006 TCERG1,TCERG1 EXON Missense_T489M,Missense_T468M exm492202 5 145878209 [A/G] NM_006706,NM_001040006 TCERG1,TCERG1 EXON Missense_R781K,Missense_R760K exm492218 5 145890048 [T/C] NM_006706,NM_001040006 TCERG1,TCERG1 EXON Missense_V1047A,Missense_V1026A exm492231 5 145894518 [G/C] NM_194251 GPR151 EXON Missense_E387Q exm492240 5 145894731 [T/C] NM_194251 GPR151 EXON Missense_G316S exm492246 5 145894835 [A/G] NM_194251 GPR151 EXON Missense_P281L exm492252 5 145894896 [C/G] NM_194251 GPR151 EXON Missense_L261V exm492253 5 145894946 [T/C] NM_194251 GPR151 EXON Missense_R244H exm492259 5 145895074 [T/C] NM_194251 GPR151 EXON Missense_M201I exm492260 5 145895088 [G/C] NM_194251 GPR151 EXON Missense_E197Q exm492262 5 145895246 [A/G] NM_194251 GPR151 EXON Missense_A144V exm2091019 5 145895270 [T/C] NM_194251 GPR151 EXON Missense_C136Y exm2091020 5 145895313 [T/C] NM_194251 GPR151 EXON Missense_M122V exm492270 5 145895361 [T/G] NM_194251 GPR151 EXON Missense_L106I exm492271 5 145895380 [T/G] NM_194251 GPR151 EXON Nonsense_Y99X exm492272 5 145895387 [A/G] NM_194251 GPR151 EXON Missense_T97M exm492273 5 145895394 [A/G] NM_194251 GPR151 EXON Nonsense_R95X exm492278 5 145895501 [T/C] NM_194251 GPR151 EXON Missense_G59D exm492282 5 145895553 [A/G] NM_194251 GPR151 EXON Missense_L42F exm492284 5 145895558 [A/G] NM_194251 GPR151 EXON Missense_P40L exm492285 5 145895596 [T/G] NM_194251 GPR151 EXON Nonsense_Y27X exm492286 5 145895608 [A/C] NM_194251 GPR151 EXON Missense_F23L exm492290 5 145895669 [A/G] NM_194251 GPR151 EXON Missense_A3V exm2257014 5 145953954 [A/G] exm492315 5 146017897 [T/C] NR_073526,NR_073527,NM_001271948,NM_181675,NM_001271900,NM_001271899,NM_181677,NM_181678,NM_181674,NM_181676 PPP2R2B,PPP2R2B,PPP2R2B,PPP2R2B,PPP2R2B,PPP2R2B,PPP2R2B,PPP2R2B,PPP2R2B,PPP2R2B EXON Silent,Silent,Missense_N225S,Missense_N342S,Missense_N294S,Missense_N242S,Missense_N216S,Missense_N225S,Missense_N302S,Missense_N239S exm2274104 5 146017939 [A/G] NR_073526,NR_073527,NM_001271948,NM_181675,NM_001271900,NM_001271899,NM_181677,NM_181678,NM_181674,NM_181676 PPP2R2B,PPP2R2B,PPP2R2B,PPP2R2B,PPP2R2B,PPP2R2B,PPP2R2B,PPP2R2B,PPP2R2B,PPP2R2B EXON Silent,Silent,Missense_T211M,Missense_T328M,Missense_T280M,Missense_T228M,Missense_T202M,Missense_T211M,Missense_T288M,Missense_T225M exm492318 5 146030164 [A/C] NR_073526,NR_073527,NM_001271948,NM_181675,NM_001271900,NM_001271899,NM_181677,NM_181678,NM_181674,NM_181676 PPP2R2B,PPP2R2B,PPP2R2B,PPP2R2B,PPP2R2B,PPP2R2B,PPP2R2B,PPP2R2B,PPP2R2B,PPP2R2B EXON Silent,Silent,Missense_A180S,Missense_A297S,Missense_A249S,Missense_A197S,Missense_A171S,Missense_A180S,Missense_A257S,Missense_A194S exm492322 5 146030225 [A/G] NR_073526,NR_073527,NM_001271948,NM_181675,NM_001271900,NM_001271899,NM_181677,NM_181678,NM_181674,NM_181676 PPP2R2B,PPP2R2B,PPP2R2B,PPP2R2B,PPP2R2B,PPP2R2B,PPP2R2B,PPP2R2B,PPP2R2B,PPP2R2B EXON Silent,Silent,Synonymous_N159N,Synonymous_N276N,Synonymous_N228N,Synonymous_N176N,Synonymous_N150N,Synonymous_N159N,Synonymous_N236N,Synonymous_N173N exm2257016 5 146030225 [A/G] NR_073526,NR_073527,NM_001271948,NM_181675,NM_001271900,NM_001271899,NM_181677,NM_181678,NM_181674,NM_181676 PPP2R2B,PPP2R2B,PPP2R2B,PPP2R2B,PPP2R2B,PPP2R2B,PPP2R2B,PPP2R2B,PPP2R2B,PPP2R2B EXON Silent,Silent,Synonymous_N159N,Synonymous_N276N,Synonymous_N228N,Synonymous_N176N,Synonymous_N150N,Synonymous_N159N,Synonymous_N236N,Synonymous_N173N exm492334 5 146080626 [T/C] NR_073526,NR_073527,NM_001271948,NM_181675,NM_001271900,NM_001271899,NM_181677,NM_181678,NM_181674,NM_181676 PPP2R2B,PPP2R2B,PPP2R2B,PPP2R2B,PPP2R2B,PPP2R2B,PPP2R2B,PPP2R2B,PPP2R2B,PPP2R2B EXON Silent,Silent,Missense_I39M,Missense_I156M,Missense_I108M,Missense_I56M,Missense_I30M,Missense_I39M,Missense_I116M,Missense_I53M exm-rs609412 5 146225244 [A/G] NR_073526,NR_073527,NM_001271948,NM_181675,NM_001271900,NM_001271899,NM_181677,NM_181678,NM_181674,NM_181676 PPP2R2B,PPP2R2B,PPP2R2B,PPP2R2B,PPP2R2B,PPP2R2B,PPP2R2B,PPP2R2B,PPP2R2B,PPP2R2B Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm-rs1864982 5 146320823 [T/G] NM_001271900,NM_001271899,NM_181677,NM_181678,NM_181674,NM_181676 PPP2R2B,PPP2R2B,PPP2R2B,PPP2R2B,PPP2R2B,PPP2R2B Silent,Silent,Silent,Silent,Silent,Silent exm-rs9325032 5 146415216 [T/C] NM_001271900,NM_001271899,NM_181677,NM_181678,NM_181674,NM_181676 PPP2R2B,PPP2R2B,PPP2R2B,PPP2R2B,PPP2R2B,PPP2R2B Silent,Silent,Silent,Silent,Silent,Silent exm2270255 5 146482041 [T/C] exm2257018 5 146542753 [A/G] exm492356 5 146658874 [A/T] NM_001112724,NM_145001 STK32A,STK32A EXON Missense_K58M,Missense_K58M exm492360 5 146658886 [A/G] NM_001112724,NM_145001 STK32A,STK32A EXON Missense_R62H,Missense_R62H exm492367 5 146703526 [A/G] NM_001112724,NM_145001 STK32A,STK32A EXON Missense_R109H,Missense_R109H exm492368 5 146703546 [A/G] NM_001112724,NM_145001 STK32A,STK32A EXON Missense_V116I,Missense_V116I exm-rs4705167 5 146743222 [T/C] NM_001112724 STK32A Silent exm492390 5 146750233 [A/G] NM_001112724 STK32A EXON Missense_R226H exm492392 5 146750259 [A/G] NM_001112724 STK32A EXON Missense_V235I exm492396 5 146752757 [A/G] NM_001112724 STK32A EXON Missense_R268Q exm492421 5 146777264 [C/G] NM_001197294,NM_001387 DPYSL3,DPYSL3 EXON Missense_D590H,Missense_D476H exm492424 5 146777356 [A/G] NM_001197294,NM_001387 DPYSL3,DPYSL3 EXON Missense_V559A,Missense_V445A exm2266021 5 146778327 [A/G] NM_001197294,NM_001387 DPYSL3,DPYSL3 Silent,Silent exm492447 5 146788328 [A/G] NM_001197294,NM_001387 DPYSL3,DPYSL3 EXON Missense_T332I,Missense_T218I exm492451 5 146795308 [T/C] NM_001197294,NM_001387 DPYSL3,DPYSL3 EXON Missense_V262I,Missense_V148I exm492452 5 146795329 [T/C] NM_001197294,NM_001387 DPYSL3,DPYSL3 EXON Missense_I255V,Missense_I141V exm2257020 5 147023705 [A/G] NR_038902,NM_014790,NM_001270934,NR_073101,NM_001270941 JAKMIP2-AS1,JAKMIP2,JAKMIP2,JAKMIP2,JAKMIP2 EXON Silent,Synonymous_L380L,Synonymous_L380L,Silent,Synonymous_L380L exm492518 5 147023705 [A/G] NR_038902,NM_014790,NM_001270934,NR_073101,NM_001270941 JAKMIP2-AS1,JAKMIP2,JAKMIP2,JAKMIP2,JAKMIP2 EXON Silent,Synonymous_L380L,Synonymous_L380L,Silent,Synonymous_L380L exm492523 5 147024446 [T/A] NR_038902,NM_014790,NM_001270934,NR_073101,NM_001270941 JAKMIP2-AS1,JAKMIP2,JAKMIP2,JAKMIP2,JAKMIP2 EXON Silent,Missense_K350N,Missense_K350N,Silent,Missense_K350N exm2091199 5 147024471 [A/C] NR_038902,NM_014790,NM_001270934,NR_073101,NM_001270941 JAKMIP2-AS1,JAKMIP2,JAKMIP2,JAKMIP2,JAKMIP2 EXON Silent,Missense_V342G,Missense_V342G,Silent,Missense_V342G exm2091200 5 147024496 [A/C] NR_038902,NM_014790,NM_001270934,NR_073101,NM_001270941 JAKMIP2-AS1,JAKMIP2,JAKMIP2,JAKMIP2,JAKMIP2 EXON Silent,Missense_A334S,Missense_A334S,Silent,Missense_A334S exm492528 5 147024547 [G/C] NR_038902,NM_014790,NM_001270934,NR_073101,NM_001270941 JAKMIP2-AS1,JAKMIP2,JAKMIP2,JAKMIP2,JAKMIP2 EXON Silent,Missense_R317G,Missense_R317G,Silent,Missense_R317G exm2241977 5 147027967 [A/G] NR_038902,NM_014790,NM_001270934,NR_073101,NM_001270941 JAKMIP2-AS1,JAKMIP2,JAKMIP2,JAKMIP2,JAKMIP2 EXON Silent,Missense_T303I,Missense_T303I,Silent,Missense_T303I exm492531 5 147028032 [A/C] NR_038902,NM_014790,NM_001270934,NR_073101,NM_001270941 JAKMIP2-AS1,JAKMIP2,JAKMIP2,JAKMIP2,JAKMIP2 EXON Silent,Missense_L281F,Missense_L281F,Silent,Missense_L281F exm492553 5 147040773 [T/C] NR_038902,NM_014790,NM_001270934,NR_073101,NM_001270941 JAKMIP2-AS1,JAKMIP2,JAKMIP2,JAKMIP2,JAKMIP2 EXON Silent,Missense_R122H,Missense_R122H,Silent,Missense_R122H exm492554 5 147040822 [T/C] NR_038902,NM_014790,NM_001270934,NR_073101,NM_001270941 JAKMIP2-AS1,JAKMIP2,JAKMIP2,JAKMIP2,JAKMIP2 EXON Silent,Missense_V106I,Missense_V106I,Silent,Missense_V106I exm492573 5 147204264 [T/C] NM_003122 SPINK1 EXON Missense_R67H exm492574 5 147204266 [T/G] NM_003122 SPINK1 EXON Missense_K66N exm492576 5 147207583 [A/G] NM_003122 SPINK1 Silent exm492581 5 147207616 [A/G] NM_003122 SPINK1 EXON Missense_P55S exm492584 5 147207678 [T/C] NM_003122 SPINK1 EXON Missense_N34S exm492589 5 147211105 [G/C] NM_003122 SPINK1 EXON Missense_L12F exm492599 5 147261026 [A/C] NM_054023 SCGB3A2 EXON Missense_N25H exm492602 5 147261123 [A/G] NM_054023 SCGB3A2 EXON Missense_G57D exm2257021 5 147261160 [A/G] NM_054023 SCGB3A2 EXON Synonymous_K69K exm492615 5 147281191 [T/C] NM_206966 C5orf46 Silent exm492617 5 147281210 [T/C] NM_206966 C5orf46 EXON Missense_R66H exm492630 5 147286013 [T/A] NM_206966 C5orf46 EXON Missense_F18I exm492633 5 147286054 [A/G] NM_206966 C5orf46 EXON Missense_S4L exm492647 5 147449923 [G/C] NM_006846,NM_001127698,NM_001127699 SPINK5,SPINK5,SPINK5 EXON Missense_G40A,Missense_G40A,Missense_G40A exm492648 5 147449943 [T/G] NM_006846,NM_001127698,NM_001127699 SPINK5,SPINK5,SPINK5 EXON Missense_D47Y,Missense_D47Y,Missense_D47Y exm492657 5 147466001 [A/G] NM_006846,NM_001127698,NM_001127699 SPINK5,SPINK5,SPINK5 EXON Missense_D106N,Missense_D106N,Missense_D106N exm492666 5 147469133 [A/G] NM_006846,NM_001127698,NM_001127699 SPINK5,SPINK5,SPINK5 EXON Missense_G184D,Missense_G184D,Missense_G184D exm492673 5 147470777 [T/C] NM_006846,NM_001127698,NM_001127699 SPINK5,SPINK5,SPINK5 EXON Nonsense_R218X,Nonsense_R218X,Nonsense_R218X exm2091288 5 147474002 [T/G] NM_006846,NM_001127698,NM_001127699 SPINK5,SPINK5,SPINK5 EXON Missense_G251V,Missense_G251V,Missense_G251V exm492683 5 147475386 [A/G] NM_006846,NM_001127698,NM_001127699 SPINK5,SPINK5,SPINK5 EXON Missense_Q267R,Missense_Q267R,Missense_Q267R exm492684 5 147475388 [T/C] NM_006846,NM_001127698,NM_001127699 SPINK5,SPINK5,SPINK5 EXON Missense_R268C,Missense_R268C,Missense_R268C exm492686 5 147475420 [A/C] NM_006846,NM_001127698,NM_001127699 SPINK5,SPINK5,SPINK5 EXON Missense_Q278H,Missense_Q278H,Missense_Q278H exm492688 5 147477440 [A/G] NM_006846,NM_001127698,NM_001127699 SPINK5,SPINK5,SPINK5 EXON Missense_S298N,Missense_S298N,Missense_S298N exm492691 5 147477551 [T/C] NM_006846,NM_001127698,NM_001127699 SPINK5,SPINK5,SPINK5 EXON Missense_A335V,Missense_A335V,Missense_A335V exm492704 5 147480027 [A/G] NM_006846,NM_001127698,NM_001127699 SPINK5,SPINK5,SPINK5 EXON Missense_S368N,Missense_S368N,Missense_S368N exm492707 5 147480056 [A/C] NM_006846,NM_001127698,NM_001127699 SPINK5,SPINK5,SPINK5 EXON Missense_K378Q,Missense_K378Q,Missense_K378Q exm492709 5 147480080 [A/G] NM_006846,NM_001127698,NM_001127699 SPINK5,SPINK5,SPINK5 EXON Missense_D386N,Missense_D386N,Missense_D386N exm492713 5 147480955 [A/G] NM_006846,NM_001127698,NM_001127699 SPINK5,SPINK5,SPINK5 EXON Missense_K420E,Missense_K420E,Missense_K420E exm492716 5 147481363 [A/G] NM_006846,NM_001127698,NM_001127699 SPINK5,SPINK5,SPINK5 EXON Missense_R441H,Missense_R441H,Missense_R441H exm492722 5 147484535 [A/G] NM_006846,NM_001127698,NM_001127699 SPINK5,SPINK5,SPINK5 EXON Missense_R484K,Missense_R484K,Missense_R484K exm492725 5 147486619 [A/G] NM_006846,NM_001127698,NM_001127699 SPINK5,SPINK5,SPINK5 EXON Missense_R500Q,Missense_R500Q,Missense_R500Q exm492728 5 147486672 [T/C] NM_006846,NM_001127698,NM_001127699 SPINK5,SPINK5,SPINK5 EXON Missense_R518C,Missense_R518C,Missense_R518C exm2091316 5 147491370 [A/C] NM_006846,NM_001127698,NM_001127699 SPINK5,SPINK5,SPINK5 EXON Synonymous_R578R,Synonymous_R578R,Synonymous_R578R exm492751 5 147493997 [T/C] NM_006846,NM_001127698,NM_001127699 SPINK5,SPINK5,SPINK5 EXON Missense_R654C,Missense_R654C,Missense_R654C exm492752 5 147494001 [A/G] NM_006846,NM_001127698,NM_001127699 SPINK5,SPINK5,SPINK5 EXON Missense_G655D,Missense_G655D,Missense_G655D exm492758 5 147495989 [T/C] NM_006846,NM_001127698,NM_001127699 SPINK5,SPINK5,SPINK5 EXON Missense_A691V,Missense_A691V,Missense_A691V exm492763 5 147498019 [A/G] NM_006846,NM_001127698,NM_001127699 SPINK5,SPINK5,SPINK5 EXON Missense_R711Q,Missense_R711Q,Missense_R711Q exm492772 5 147498551 [A/G] NM_006846,NM_001127698,NM_001127699 SPINK5,SPINK5,SPINK5 EXON Missense_E748G,Missense_E748G,Missense_E748G exm492784 5 147499677 [T/G] NM_006846,NM_001127698,NM_001127699 SPINK5,SPINK5,SPINK5 EXON Missense_C807G,Missense_C807G,Missense_C807G exm492789 5 147499891 [T/G] NM_006846,NM_001127698,NM_001127699 SPINK5,SPINK5,SPINK5 EXON Missense_E825D,Missense_E825D,Missense_E825D exm492794 5 147503518 [G/C] NM_006846,NM_001127698,NM_001127699 SPINK5,SPINK5,SPINK5 EXON Missense_S887R,Missense_S887R,Missense_S887R exm492806 5 147505308 [A/G] NM_006846,NM_001127698 SPINK5,SPINK5 EXON Missense_N921S,Missense_N951S exm492809 5 147505341 [A/G] NM_006846,NM_001127698 SPINK5,SPINK5 EXON Missense_R932K,Missense_R962K exm492810 5 147505410 [T/C] NM_006846,NM_001127698 SPINK5,SPINK5 EXON Missense_V955A,Missense_V985A exm492812 5 147506583 [A/G] NM_006846,NM_001127698 SPINK5,SPINK5 EXON Missense_K969E,Missense_K999E exm492814 5 147506593 [A/G] NM_006846,NM_001127698 SPINK5,SPINK5 EXON Missense_H972R,Missense_H1002R exm2270145 5 147507420 [T/C] NM_006846,NM_001127698 SPINK5,SPINK5 Silent,Silent exm492847 5 147550520 [T/C] NM_001001325 SPINK14 EXON Missense_P32L exm492859 5 147582691 [A/C] NM_001195290,NM_205841 SPINK6,SPINK6 EXON Missense_S11Y,Missense_S11Y exm492864 5 147593497 [A/C] NM_001195290,NM_205841 SPINK6,SPINK6 EXON Missense_P36T,Missense_P36T exm2261850 5 147652085 [A/C] NM_001040129 SPINK13 Silent exm492874 5 147653927 [T/G] NM_001040129 SPINK13 EXON Missense_D30Y exm492880 5 147661742 [T/G] NM_001040129 SPINK13 EXON Missense_A62S exm492891 5 147665609 [T/C] NM_001040129 SPINK13 EXON Missense_X95Q exm492895 5 147692077 [T/C] NM_032566 SPINK7 EXON Missense_C11R exm492905 5 147693672 [A/G] NM_032566 SPINK7 EXON Missense_S33G exm492910 5 147693788 [C/G] NM_032566 SPINK7 Silent exm492915 5 147695218 [A/G] NM_032566 SPINK7 EXON Missense_V77I exm492923 5 147715227 [A/G] NM_001040433 SPINK9 EXON Missense_M17I exm2241984 5 147778585 [T/C] NM_030793,NM_001271723 FBXO38,FBXO38 EXON Missense_M51T,Missense_M51T exm2091416 5 147784367 [A/G] NM_030793,NM_001271723 FBXO38,FBXO38 EXON Missense_V238I,Missense_V238I exm492963 5 147788749 [A/C] NM_030793,NM_001271723 FBXO38,FBXO38 EXON Missense_L311I,Missense_L311I exm492979 5 147795620 [A/G] NM_030793,NM_001271723 FBXO38,FBXO38 EXON Missense_R465H,Missense_R465H exm2091429 5 147796677 [A/G] NM_030793,NM_001271723 FBXO38,FBXO38 EXON Missense_D510N,Missense_D510N exm492995 5 147805120 [T/C] NM_030793,NM_001271723 FBXO38,FBXO38 EXON Missense_S592P,Missense_S592P exm493000 5 147805208 [A/G] NM_030793,NM_001271723 FBXO38,FBXO38 EXON Missense_R621H,Missense_R621H exm2257025 5 147805260 [A/G] NM_030793,NM_001271723 FBXO38,FBXO38 EXON Synonymous_L638L,Synonymous_L638L exm2091434 5 147805260 [A/G] NM_030793,NM_001271723 FBXO38,FBXO38 EXON Synonymous_L638L,Synonymous_L638L exm493002 5 147806815 [A/G] NM_030793,NM_001271723 FBXO38,FBXO38 EXON Missense_N653S,Silent exm493004 5 147806865 [T/C] NM_030793,NM_001271723 FBXO38,FBXO38 EXON Missense_C670R,Silent exm493006 5 147807003 [A/G] NM_030793,NM_001271723 FBXO38,FBXO38 EXON Missense_S716G,Silent exm493010 5 147807057 [A/G] NM_030793,NM_001271723 FBXO38,FBXO38 EXON Missense_G734S,Silent exm493021 5 147807198 [T/C] NM_030793,NM_001271723 FBXO38,FBXO38 EXON Missense_P781S,Silent exm493025 5 147807297 [A/G] NM_030793,NM_001271723 FBXO38,FBXO38 Silent,Silent exm493027 5 147807322 [A/G] NM_030793,NM_001271723 FBXO38,FBXO38 Silent,Silent exm493033 5 147807426 [A/G] NM_030793,NM_001271723 FBXO38,FBXO38 Silent,Silent exm493049 5 147817940 [G/C] NM_030793,NM_001271723 FBXO38,FBXO38 EXON Missense_P893R,Missense_P723R exm493053 5 147818056 [A/C] NM_030793,NM_001271723 FBXO38,FBXO38 EXON Missense_Q932K,Missense_Q762K exm493059 5 147820077 [G/C] NM_030793,NM_001271723 FBXO38,FBXO38 EXON Missense_I1012M,Missense_I842M exm493075 5 147821690 [A/G] NM_030793,NM_001271723 FBXO38,FBXO38 EXON Missense_V1108I,Missense_V938I exm-rs11168048 5 147842353 [T/C] NM_001040169,NM_199453 HTR4,HTR4 Silent,Silent exm493086 5 147845463 [A/G] NM_001040169,NM_199453 HTR4,HTR4 EXON Silent,Missense_L368F exm-rs3995090 5 147845815 [A/C] NM_001040169,NM_199453 HTR4,HTR4 Silent,Silent exm493094 5 147862818 [T/C] NM_001040169,NM_199453,NM_001040172,NM_000870,NM_001040173 HTR4,HTR4,HTR4,HTR4,HTR4 EXON Silent,Silent,Silent,Missense_C372Y,Missense_C412Y exm493099 5 147863890 [A/C] NM_001040169,NM_199453,NM_001040172,NM_000870,NM_001040173 HTR4,HTR4,HTR4,HTR4,HTR4 EXON Silent,Silent,Silent,Silent,Missense_A377S exm2266022 5 147877724 [A/G] NM_001040169,NM_199453,NM_001040172,NM_000870,NM_001040173 HTR4,HTR4,HTR4,HTR4,HTR4 Silent,Silent,Silent,Silent,Silent exm493103 5 147889097 [T/C] NM_001040169,NM_199453,NM_001040172,NM_000870,NM_001040173 HTR4,HTR4,HTR4,HTR4,HTR4 EXON Missense_R333H,Missense_R333H,Missense_R333H,Missense_R333H,Missense_R333H exm493109 5 147889346 [T/C] NM_001040169,NM_199453,NM_001040172,NM_000870,NM_001040173 HTR4,HTR4,HTR4,HTR4,HTR4 EXON Missense_R250H,Missense_R250H,Missense_R250H,Missense_R250H,Missense_R250H exm493114 5 147889386 [T/C] NM_001040169,NM_199453,NM_001040172,NM_000870,NM_001040173 HTR4,HTR4,HTR4,HTR4,HTR4 EXON Missense_E237K,Missense_E237K,Missense_E237K,Missense_E237K,Missense_E237K exm493115 5 147889404 [A/G] NM_001040169,NM_199453,NM_001040172,NM_000870,NM_001040173 HTR4,HTR4,HTR4,HTR4,HTR4 EXON Missense_R231W,Missense_R231W,Missense_R231W,Missense_R231W,Missense_R231W exm493119 5 147889519 [A/G] NM_001040169,NM_199453,NM_001040172,NM_000870,NM_001040173 HTR4,HTR4,HTR4,HTR4,HTR4 EXON Synonymous_Y192Y,Synonymous_Y192Y,Synonymous_Y192Y,Synonymous_Y192Y,Synonymous_Y192Y exm2257027 5 147889519 [A/G] NM_001040169,NM_199453,NM_001040172,NM_000870,NM_001040173 HTR4,HTR4,HTR4,HTR4,HTR4 EXON Synonymous_Y192Y,Synonymous_Y192Y,Synonymous_Y192Y,Synonymous_Y192Y,Synonymous_Y192Y exm493120 5 147889535 [A/G] NM_001040169,NM_199453,NM_001040172,NM_000870,NM_001040173 HTR4,HTR4,HTR4,HTR4,HTR4 EXON Missense_M187T,Missense_M187T,Missense_M187T,Missense_M187T,Missense_M187T exm493122 5 147889550 [A/G] NM_001040169,NM_199453,NM_001040172,NM_000870,NM_001040173 HTR4,HTR4,HTR4,HTR4,HTR4 EXON Missense_T182M,Missense_T182M,Missense_T182M,Missense_T182M,Missense_T182M exm493154 5 147929772 [A/G] NM_001040169,NM_199453,NM_001040172,NM_000870,NM_001040173 HTR4,HTR4,HTR4,HTR4,HTR4 EXON Missense_S27L,Missense_S27L,Missense_S27L,Missense_S27L,Missense_S27L exm493155 5 147929781 [A/G] NM_001040169,NM_199453,NM_001040172,NM_000870,NM_001040173 HTR4,HTR4,HTR4,HTR4,HTR4 EXON Missense_T24M,Missense_T24M,Missense_T24M,Missense_T24M,Missense_T24M exm493156 5 147929809 [T/C] NM_001040169,NM_199453,NM_001040172,NM_000870,NM_001040173 HTR4,HTR4,HTR4,HTR4,HTR4 EXON Missense_G15R,Missense_G15R,Missense_G15R,Missense_G15R,Missense_G15R exm2266128 5 148191398 [A/G] exm493168 5 148206440 [A/G] NM_000024 ADRB2 EXON Missense_G16R exm493171 5 148206473 [G/C] NM_000024 ADRB2 EXON Missense_E27Q exm493187 5 148206776 [T/G] NM_000024 ADRB2 EXON Missense_A128S exm493189 5 148206885 [T/C] NM_000024 ADRB2 EXON Missense_T164I exm493194 5 148206954 [A/G] NM_000024 ADRB2 EXON Missense_N187S exm493197 5 148207053 [C/G] NM_000024 ADRB2 EXON Missense_S220C exm493244 5 148384455 [A/T] NM_024577 SH3TC2 EXON Missense_D1229V exm493245 5 148386475 [T/C] NM_024577 SH3TC2 EXON Missense_R1215H exm493247 5 148386508 [T/C] NM_024577 SH3TC2 EXON Missense_K1204R exm493249 5 148386569 [T/C] NM_024577 SH3TC2 EXON Missense_M1184V exm493254 5 148388420 [T/C] NM_024577 SH3TC2 EXON Missense_V1158I exm493259 5 148388512 [T/C] NM_024577 SH3TC2 EXON Missense_R1127Q exm493261 5 148389835 [A/G] NM_024577 SH3TC2 EXON Nonsense_R1109X exm493265 5 148389855 [T/C] NM_024577 SH3TC2 EXON Missense_H1102R exm493275 5 148392224 [A/C] NM_024577 SH3TC2 EXON Missense_A1043S exm2091529 5 148406139 [T/C] NM_024577 SH3TC2 EXON Missense_A1017T exm493282 5 148406171 [A/G] NM_024577 SH3TC2 EXON Missense_S1006F exm493284 5 148406189 [T/G] NM_024577 SH3TC2 EXON Missense_E1000A exm493285 5 148406198 [T/C] NM_024577 SH3TC2 EXON Missense_R997Q exm493295 5 148406435 [A/G] NM_024577 SH3TC2 EXON Nonsense_R954X exm493299 5 148406483 [A/G] NM_024577 SH3TC2 EXON Missense_H938Y exm493304 5 148406552 [A/T] NM_024577 SH3TC2 EXON Missense_T915S exm493310 5 148406604 [C/G] NM_024577 SH3TC2 EXON Missense_N897K exm493311 5 148406713 [T/C] NM_024577 SH3TC2 EXON Missense_R861Q exm493325 5 148406989 [T/C] NM_024577 SH3TC2 EXON Missense_E769G exm493328 5 148407022 [T/G] NM_024577 SH3TC2 EXON Missense_A758D exm493334 5 148407208 [T/C] NM_024577 SH3TC2 EXON Missense_H696R exm493336 5 148407278 [T/C] NM_024577 SH3TC2 EXON Missense_A673T exm493338 5 148407322 [T/C] NM_024577 SH3TC2 EXON Missense_R658H exm493347 5 148407433 [T/C] NM_024577 SH3TC2 EXON Missense_R621H exm2241991 5 148407481 [T/C] NM_024577 SH3TC2 EXON Missense_R605H exm493352 5 148407527 [T/C] NM_024577 SH3TC2 EXON Missense_A590T exm493354 5 148407574 [T/C] NM_024577 SH3TC2 EXON Missense_N574S exm493362 5 148407773 [T/C] NM_024577 SH3TC2 EXON Missense_V508M exm493363 5 148407812 [T/C] NM_024577 SH3TC2 EXON Missense_T495A exm493369 5 148407892 [A/G] NM_024577 SH3TC2 EXON Missense_A468V exm493370 5 148407893 [A/C] NM_024577 SH3TC2 EXON Missense_A468S exm493379 5 148407997 [A/G] NM_024577 SH3TC2 EXON Missense_S433L exm493380 5 148408041 [A/C] NM_024577 SH3TC2 EXON Missense_Q418H exm493381 5 148408091 [C/G] NM_024577 SH3TC2 EXON Missense_V402L exm493382 5 148408100 [A/G] NM_024577 SH3TC2 EXON Missense_F399L exm493384 5 148408117 [A/G] NM_024577 SH3TC2 EXON Missense_A393V exm493388 5 148408245 [A/C] NM_024577 SH3TC2 EXON Missense_L391R exm493399 5 148418023 [T/C] NM_024577 SH3TC2 EXON Missense_Y279C exm493404 5 148420178 [A/G] NM_024577 SH3TC2 EXON Missense_S265F exm493406 5 148420221 [A/G] NM_024577 SH3TC2 EXON Missense_P251S exm493408 5 148420239 [A/C] NM_024577 SH3TC2 EXON Missense_W245G exm493410 5 148421021 [A/G] NM_024577 SH3TC2 EXON Missense_V230A exm493419 5 148422269 [T/G] NM_024577 SH3TC2 EXON Missense_L173M exm493420 5 148422274 [T/C] NM_024577 SH3TC2 EXON Missense_G171E exm493421 5 148422281 [A/G] NM_024577 SH3TC2 EXON Missense_Y169H exm493429 5 148427447 [T/C] NM_024577 SH3TC2 EXON Missense_Q86R exm493432 5 148427466 [T/C] NM_024577 SH3TC2 EXON Missense_A80T exm2091570 5 148427475 [A/G] NM_024577 SH3TC2 EXON Missense_R77W exm493436 5 148431719 [T/G] NM_024577 SH3TC2 EXON Missense_Q46P exm493442 5 148431777 [T/C] NM_024577 SH3TC2 EXON Missense_T27A exm493444 5 148431783 [A/C] NM_024577 SH3TC2 EXON Missense_D25Y exm2091573 5 148431804 [T/C] NM_024577 SH3TC2 Silent exm493453 5 148442555 [A/G] NM_024577 SH3TC2 EXON Missense_R11W exm493459 5 148563057 [A/G] NM_014945 ABLIM3 EXON Missense_N19S exm493468 5 148577887 [A/G] NM_014945 ABLIM3 EXON Missense_R86Q exm493477 5 148579917 [A/G] NM_014945 ABLIM3 EXON Missense_G125D exm2257028 5 148588846 [A/G] NM_014945 ABLIM3 Silent exm493496 5 148590356 [T/C] NM_014945 ABLIM3 EXON Nonsense_R215X exm493498 5 148596546 [A/G] NM_014945 ABLIM3 EXON Missense_T232A exm493506 5 148610251 [A/G] NM_014945 ABLIM3 EXON Missense_R266Q exm493519 5 148617134 [A/G] NM_014945 ABLIM3 EXON Missense_D338N exm493524 5 148618835 [A/T] NM_014945 ABLIM3 EXON Missense_S357T exm493525 5 148618836 [T/C] NM_014945 ABLIM3 EXON Missense_S357F exm493529 5 148619346 [T/C] NM_014945 ABLIM3 EXON Missense_R367W exm493535 5 148619424 [T/C] NM_014945 ABLIM3 EXON Missense_R393C exm493539 5 148620240 [T/G] NM_014945 ABLIM3 EXON Synonymous_G402G exm493544 5 148622075 [A/G] NM_014945 ABLIM3 EXON Missense_R442Q exm493548 5 148622095 [T/C] NM_014945 ABLIM3 EXON Missense_R449W exm493549 5 148622096 [A/G] NM_014945 ABLIM3 EXON Missense_R449Q exm493563 5 148626092 [C/G] NM_014945 ABLIM3 EXON Missense_D512H exm493564 5 148626095 [T/C] NM_014945 ABLIM3 EXON Missense_R513C exm493568 5 148627397 [T/C] NM_014945 ABLIM3 EXON Missense_S535L exm493570 5 148627430 [A/G] NM_014945 ABLIM3 EXON Missense_R546Q exm493572 5 148627448 [A/G] NM_014945 ABLIM3 EXON Missense_R552Q exm493585 5 148630961 [A/G] NM_014945 ABLIM3 EXON Missense_A610T exm493597 5 148632393 [A/G] NM_014945 ABLIM3 EXON Missense_R644H exm493608 5 148679137 [A/G] NM_001146337,NM_152406 AFAP1L1,AFAP1L1 EXON Missense_D28N,Missense_D28N exm493611 5 148679852 [T/G] NM_001146337,NM_152406 AFAP1L1,AFAP1L1 EXON Missense_L55R,Missense_L55R exm493620 5 148680717 [A/G] NM_001146337,NM_152406 AFAP1L1,AFAP1L1 EXON Missense_R84Q,Missense_R84Q exm493622 5 148680777 [A/G] NM_001146337,NM_152406 AFAP1L1,AFAP1L1 EXON Missense_S104N,Missense_S104N exm493629 5 148682009 [A/G] NM_001146337,NM_152406 AFAP1L1,AFAP1L1 EXON Missense_N119S,Missense_N119S exm493632 5 148682030 [A/G] NM_001146337,NM_152406 AFAP1L1,AFAP1L1 EXON Missense_Y126C,Missense_Y126C exm493639 5 148685890 [T/C] NM_001146337,NM_152406 AFAP1L1,AFAP1L1 EXON Missense_S153L,Missense_S153L exm493641 5 148685916 [A/G] NM_001146337,NM_152406 AFAP1L1,AFAP1L1 EXON Missense_A162T,Missense_A162T exm2091661 5 148689588 [A/G] NM_001146337,NM_152406 AFAP1L1,AFAP1L1 EXON Missense_V273M,Missense_V273M exm493656 5 148689673 [A/G] NM_001146337,NM_152406 AFAP1L1,AFAP1L1 EXON Missense_R301Q,Missense_R301Q exm493659 5 148691726 [T/C] NM_001146337,NM_152406 AFAP1L1,AFAP1L1 EXON Missense_P327S,Missense_P327S exm493664 5 148695404 [T/G] NM_001146337,NM_152406 AFAP1L1,AFAP1L1 EXON Missense_Q347H,Missense_Q347H exm493668 5 148695476 [T/C] NM_001146337,NM_152406 AFAP1L1,AFAP1L1 EXON Synonymous_H371H,Synonymous_H371H exm493675 5 148695816 [T/C] NM_001146337,NM_152406 AFAP1L1,AFAP1L1 EXON Missense_L406P,Missense_L406P exm493677 5 148695825 [A/T] NM_001146337,NM_152406 AFAP1L1,AFAP1L1 EXON Missense_D409V,Missense_D409V exm2091669 5 148695827 [A/C] NM_001146337,NM_152406 AFAP1L1,AFAP1L1 EXON Missense_L410M,Missense_L410M exm493684 5 148697346 [A/G] NM_001146337,NM_152406 AFAP1L1,AFAP1L1 EXON Missense_K441R,Missense_K441R exm493686 5 148697378 [A/G] NM_001146337,NM_152406 AFAP1L1,AFAP1L1 EXON Missense_M452V,Missense_M452V exm493693 5 148699170 [A/G] NM_001146337,NM_152406 AFAP1L1,AFAP1L1 EXON Missense_R502H,Missense_R502H exm493703 5 148699986 [A/G] NM_001146337,NM_152406 AFAP1L1,AFAP1L1 EXON Missense_E553G,Missense_E553G exm493708 5 148702193 [A/G] NM_001146337,NM_152406 AFAP1L1,AFAP1L1 EXON Missense_G575R,Missense_G575R exm2091678 5 148702241 [A/C] NM_001146337,NM_152406 AFAP1L1,AFAP1L1 EXON Missense_R591S,Missense_R591S exm493711 5 148702255 [A/G] NM_001146337,NM_152406 AFAP1L1,AFAP1L1 EXON Synonymous_Q595Q,Synonymous_Q595Q exm493713 5 148709276 [T/C] NM_001146337,NM_152406 AFAP1L1,AFAP1L1 EXON Missense_R620W,Missense_R620W exm493715 5 148709328 [A/G] NM_001146337,NM_152406 AFAP1L1,AFAP1L1 EXON Missense_R637Q,Missense_R637Q exm493728 5 148712368 [T/C] NM_001146337,NM_152406 AFAP1L1,AFAP1L1 EXON Missense_R696C,Missense_R696C exm493729 5 148712369 [A/G] NM_001146337,NM_152406 AFAP1L1,AFAP1L1 EXON Missense_R696H,Missense_R696H exm493730 5 148712407 [A/C] NM_001146337,NM_152406 AFAP1L1,AFAP1L1 EXON Missense_L709I,Missense_L709I exm493732 5 148715184 [A/G] NM_001146337,NM_152406 AFAP1L1,AFAP1L1 EXON Silent,Missense_V728I exm493735 5 148715247 [A/G] NM_001146337,NM_152406 AFAP1L1,AFAP1L1 EXON Silent,Missense_V749I exm493743 5 148725169 [T/C] NM_152407 GRPEL2 EXON Missense_W23R exm493748 5 148727918 [A/G] NM_152407 GRPEL2 EXON Missense_G54E exm493756 5 148729263 [A/G] NM_152407 GRPEL2 EXON Missense_R93Q exm493773 5 148730784 [A/G] NM_152407 GRPEL2 EXON Missense_H206R exm493774 5 148730790 [A/G] NM_152407 GRPEL2 EXON Missense_R208H exm493794 5 148743614 [A/G] NM_024028 PCYOX1L EXON Missense_R104H exm493808 5 148745699 [T/C] NM_024028 PCYOX1L EXON Missense_A222V exm493810 5 148746986 [T/C] NM_024028 PCYOX1L EXON Missense_V249A exm493832 5 148747902 [C/G] NM_024028 PCYOX1L EXON Missense_E390D exm493836 5 148748023 [A/C] NM_024028 PCYOX1L EXON Missense_R431S exm493837 5 148748030 [T/C] NM_024028 PCYOX1L EXON Missense_T433M exm493849 5 148753999 [T/C] NM_014443 IL17B EXON Missense_R159H exm493854 5 148754021 [A/G] NM_014443 IL17B EXON Missense_R152C exm493855 5 148754023 [T/C] NM_014443 IL17B EXON Missense_R151H exm493863 5 148754117 [A/G] NM_014443 IL17B EXON Missense_R120W exm493880 5 148756455 [T/C] NM_014443 IL17B EXON Missense_R52Q exm493881 5 148756456 [A/G] NM_014443 IL17B EXON Missense_R52W exm-rs13180336 5 148868169 [A/G] exm-rs10058728 5 148904092 [A/T] NM_001271742,NM_001271741,NM_001892,NM_001025105 CSNK1A1,CSNK1A1,CSNK1A1,CSNK1A1 Silent,Silent,Silent,Silent exm493921 5 148977407 [G/C] NM_001001669 ARHGEF37 EXON Missense_D25E exm493927 5 148977493 [G/C] NM_001001669 ARHGEF37 EXON Missense_S54C exm493929 5 148977519 [A/G] NM_001001669 ARHGEF37 Silent exm493930 5 148980675 [T/C] NM_001001669 ARHGEF37 EXON Missense_P64L exm2242002 5 148980714 [A/G] NM_001001669 ARHGEF37 EXON Missense_D77G exm493940 5 148989215 [T/C] NM_001001669 ARHGEF37 EXON Missense_P139S exm493941 5 148989216 [T/C] NM_001001669 ARHGEF37 EXON Missense_P139L exm493946 5 148989259 [A/G] NM_001001669 ARHGEF37 Silent exm493947 5 148996132 [T/C] NM_001001669 ARHGEF37 EXON Missense_P154L exm493953 5 148996287 [A/G] NM_001001669 ARHGEF37 EXON Missense_V206M exm493955 5 148996328 [A/G] NM_001001669 ARHGEF37 EXON Synonymous_V219V exm493961 5 148997807 [T/C] NM_001001669 ARHGEF37 EXON Missense_L243F exm493973 5 148998582 [A/G] NM_001001669 ARHGEF37 EXON Missense_A291T exm493984 5 149001303 [A/G] NM_001001669 ARHGEF37 EXON Missense_R338Q exm493991 5 149001408 [A/G] NM_001001669 ARHGEF37 EXON Missense_R373Q exm493994 5 149001461 [A/G] NM_001001669 ARHGEF37 EXON Missense_A391T exm493995 5 149001464 [T/C] NM_001001669 ARHGEF37 EXON Missense_R392W exm493996 5 149001530 [A/G] NM_001001669 ARHGEF37 EXON Missense_M414V exm493997 5 149001551 [A/C] NM_001001669 ARHGEF37 EXON Missense_M421L exm494001 5 149003582 [A/G] NM_001001669 ARHGEF37 EXON Missense_H448R exm494002 5 149003583 [C/G] NM_001001669 ARHGEF37 EXON Missense_H448Q exm494004 5 149003626 [A/G] NM_001001669 ARHGEF37 EXON Missense_A463T exm494005 5 149003627 [T/C] NM_001001669 ARHGEF37 EXON Missense_A463V exm494014 5 149006640 [T/C] NM_001001669 ARHGEF37 EXON Missense_P489L exm494016 5 149006726 [A/C] NM_001001669 ARHGEF37 EXON Missense_S518R exm494017 5 149006727 [T/G] NM_001001669 ARHGEF37 EXON Missense_S518I exm494019 5 149006759 [T/C] NM_001001669 ARHGEF37 EXON Missense_R529W exm494020 5 149006760 [A/G] NM_001001669 ARHGEF37 EXON Missense_R529Q exm494041 5 149008467 [A/C] NM_001001669 ARHGEF37 EXON Missense_P586T exm494044 5 149008521 [A/G] NM_001001669 ARHGEF37 EXON Missense_M604V exm494061 5 149200008 [A/G] NM_133263,NM_001172698,NM_001172699 PPARGC1B,PPARGC1B,PPARGC1B EXON Missense_G31R,Missense_G31R,Missense_G6R exm2257029 5 149200043 [T/C] NM_133263,NM_001172698,NM_001172699 PPARGC1B,PPARGC1B,PPARGC1B EXON Synonymous_L42L,Synonymous_L42L,Synonymous_L17L exm494065 5 149200066 [A/G] NM_133263,NM_001172698,NM_001172699 PPARGC1B,PPARGC1B,PPARGC1B EXON Missense_S50N,Missense_S50N,Missense_S25N exm494085 5 149210403 [A/G] NM_133263,NM_001172698,NM_001172699 PPARGC1B,PPARGC1B,PPARGC1B EXON Missense_R180H,Silent,Silent exm-rs32579 5 149210848 [T/C] NM_133263,NM_001172698,NM_001172699 PPARGC1B,PPARGC1B,PPARGC1B Silent,Silent,Silent exm494090 5 149212243 [C/G] NM_133263,NM_001172698,NM_001172699 PPARGC1B,PPARGC1B,PPARGC1B EXON Missense_A203P,Missense_A164P,Missense_A139P exm494093 5 149212298 [A/C] NM_133263,NM_001172698,NM_001172699 PPARGC1B,PPARGC1B,PPARGC1B EXON Missense_T221N,Missense_T182N,Missense_T157N exm494094 5 149212301 [T/C] NM_133263,NM_001172698,NM_001172699 PPARGC1B,PPARGC1B,PPARGC1B EXON Missense_S222L,Missense_S183L,Missense_S158L exm494100 5 149212352 [A/G] NM_133263,NM_001172698,NM_001172699 PPARGC1B,PPARGC1B,PPARGC1B EXON Missense_S239N,Missense_S200N,Missense_S175N exm494105 5 149212403 [A/G] NM_133263,NM_001172698,NM_001172699 PPARGC1B,PPARGC1B,PPARGC1B EXON Missense_S256N,Missense_S217N,Missense_S192N exm494107 5 149212426 [A/C] NM_133263,NM_001172698,NM_001172699 PPARGC1B,PPARGC1B,PPARGC1B EXON Missense_P264T,Missense_P225T,Missense_P200T exm494114 5 149212471 [A/G] NM_133263,NM_001172698,NM_001172699 PPARGC1B,PPARGC1B,PPARGC1B EXON Missense_V279I,Missense_V240I,Missense_V215I exm494117 5 149212510 [A/C] NM_133263,NM_001172698,NM_001172699 PPARGC1B,PPARGC1B,PPARGC1B EXON Missense_R292S,Missense_R253S,Missense_R228S exm494124 5 149212624 [T/C] NM_133263,NM_001172698,NM_001172699 PPARGC1B,PPARGC1B,PPARGC1B EXON Missense_R330W,Missense_R291W,Missense_R266W exm494127 5 149212687 [A/G] NM_133263,NM_001172698,NM_001172699 PPARGC1B,PPARGC1B,PPARGC1B EXON Missense_V351M,Missense_V312M,Missense_V287M exm494128 5 149212724 [T/C] NM_133263,NM_001172698,NM_001172699 PPARGC1B,PPARGC1B,PPARGC1B EXON Missense_T363M,Missense_T324M,Missense_T299M exm494131 5 149212756 [A/G] NM_133263,NM_001172698,NM_001172699 PPARGC1B,PPARGC1B,PPARGC1B EXON Missense_R374G,Missense_R335G,Missense_R310G exm494136 5 149212802 [A/C] NM_133263,NM_001172698,NM_001172699 PPARGC1B,PPARGC1B,PPARGC1B EXON Missense_S389Y,Missense_S350Y,Missense_S325Y exm494142 5 149212874 [A/G] NM_133263,NM_001172698,NM_001172699 PPARGC1B,PPARGC1B,PPARGC1B EXON Missense_R413Q,Missense_R374Q,Missense_R349Q exm494143 5 149212897 [C/G] NM_133263,NM_001172698,NM_001172699 PPARGC1B,PPARGC1B,PPARGC1B EXON Missense_R421G,Missense_R382G,Missense_R357G exm494147 5 149212973 [A/T] NM_133263,NM_001172698,NM_001172699 PPARGC1B,PPARGC1B,PPARGC1B EXON Missense_E446V,Missense_E407V,Missense_E382V exm494149 5 149213001 [T/G] NM_133263,NM_001172698,NM_001172699 PPARGC1B,PPARGC1B,PPARGC1B EXON Missense_R455S,Missense_R416S,Missense_R391S exm494151 5 149213053 [C/G] NM_133263,NM_001172698,NM_001172699 PPARGC1B,PPARGC1B,PPARGC1B EXON Missense_V473L,Missense_V434L,Missense_V409L exm494153 5 149213060 [A/C] NM_133263,NM_001172698,NM_001172699 PPARGC1B,PPARGC1B,PPARGC1B EXON Missense_P475H,Missense_P436H,Missense_P411H exm494157 5 149213075 [A/G] NM_133263,NM_001172698,NM_001172699 PPARGC1B,PPARGC1B,PPARGC1B EXON Missense_R480Q,Missense_R441Q,Missense_R416Q exm494161 5 149213135 [T/C] NM_133263,NM_001172698,NM_001172699 PPARGC1B,PPARGC1B,PPARGC1B EXON Missense_S500L,Missense_S461L,Missense_S436L exm494168 5 149213218 [A/G] NM_133263,NM_001172698,NM_001172699 PPARGC1B,PPARGC1B,PPARGC1B EXON Missense_E528K,Missense_E489K,Missense_E464K exm2257030 5 149215995 [A/C] NM_133263,NM_001172698,NM_001172699 PPARGC1B,PPARGC1B,PPARGC1B EXON Synonymous_P659P,Synonymous_P620P,Synonymous_P595P exm494186 5 149216123 [T/G] NM_133263,NM_001172698,NM_001172699 PPARGC1B,PPARGC1B,PPARGC1B EXON Missense_G702V,Missense_G663V,Missense_G638V exm494188 5 149216159 [T/C] NM_133263,NM_001172698,NM_001172699 PPARGC1B,PPARGC1B,PPARGC1B EXON Missense_P714L,Missense_P675L,Missense_P650L exm494194 5 149216276 [T/C] NM_133263,NM_001172698,NM_001172699 PPARGC1B,PPARGC1B,PPARGC1B EXON Missense_T753M,Missense_T714M,Missense_T689M exm494195 5 149216299 [T/C] NM_133263,NM_001172698,NM_001172699 PPARGC1B,PPARGC1B,PPARGC1B EXON Missense_R761C,Missense_R722C,Missense_R697C exm494197 5 149216306 [A/G] NM_133263,NM_001172698,NM_001172699 PPARGC1B,PPARGC1B,PPARGC1B EXON Missense_S763N,Missense_S724N,Missense_S699N exm494201 5 149216356 [G/C] NM_133263,NM_001172698,NM_001172699 PPARGC1B,PPARGC1B,PPARGC1B EXON Missense_L780V,Missense_L741V,Missense_L716V exm494213 5 149216570 [A/G] NM_133263,NM_001172698,NM_001172699 PPARGC1B,PPARGC1B,PPARGC1B EXON Missense_R851H,Missense_R812H,Missense_R787H exm494214 5 149216575 [T/C] NM_133263,NM_001172698,NM_001172699 PPARGC1B,PPARGC1B,PPARGC1B EXON Missense_R853C,Missense_R814C,Missense_R789C exm2091813 5 149216576 [A/G] NM_133263,NM_001172698,NM_001172699 PPARGC1B,PPARGC1B,PPARGC1B EXON Missense_R853H,Missense_R814H,Missense_R789H exm494225 5 149219653 [A/G] NM_133263,NM_001172698,NM_001172699 PPARGC1B,PPARGC1B,PPARGC1B EXON Missense_A890T,Missense_A851T,Missense_A826T exm494226 5 149219662 [T/C] NM_133263,NM_001172698,NM_001172699 PPARGC1B,PPARGC1B,PPARGC1B EXON Missense_R893W,Missense_R854W,Missense_R829W exm2091817 5 149219663 [A/G] NM_133263,NM_001172698,NM_001172699 PPARGC1B,PPARGC1B,PPARGC1B EXON Missense_R893Q,Missense_R854Q,Missense_R829Q exm494228 5 149219666 [A/G] NM_133263,NM_001172698,NM_001172699 PPARGC1B,PPARGC1B,PPARGC1B EXON Missense_R894Q,Missense_R855Q,Missense_R830Q exm494232 5 149221842 [T/G] NM_133263,NM_001172698,NM_001172699 PPARGC1B,PPARGC1B,PPARGC1B EXON Missense_I906M,Missense_I867M,Missense_I842M exm2257031 5 149225335 [T/C] NM_133263,NM_001172698,NM_001172699 PPARGC1B,PPARGC1B,PPARGC1B EXON Synonymous_Y943Y,Synonymous_Y904Y,Synonymous_Y879Y exm2091824 5 149225335 [T/C] NM_133263,NM_001172698,NM_001172699 PPARGC1B,PPARGC1B,PPARGC1B EXON Synonymous_Y943Y,Synonymous_Y904Y,Synonymous_Y879Y exm494258 5 149240492 [A/C] NM_000440 PDE6A EXON Missense_G850V exm494270 5 149242811 [T/C] NM_000440 PDE6A EXON Missense_E793K exm494273 5 149242820 [A/G] NM_000440 PDE6A EXON Missense_R790C exm494277 5 149247310 [A/G] NM_000440 PDE6A EXON Missense_T751M exm494278 5 149247313 [T/C] NM_000440 PDE6A EXON Missense_R750H exm494286 5 149247713 [A/G] NM_000440 PDE6A EXON Missense_M715T exm494290 5 149263002 [T/C] NM_000440 PDE6A EXON Missense_E709K exm494300 5 149264103 [A/C] NM_000440 PDE6A EXON Nonsense_E656X exm494301 5 149264106 [A/G] NM_000440 PDE6A EXON Missense_H655Y exm2091840 5 149264115 [A/G] NM_000440 PDE6A EXON Missense_R652C exm494302 5 149264117 [T/C] NM_000440 PDE6A EXON Missense_N651S exm494303 5 149264133 [T/C] NM_000440 PDE6A EXON Missense_I646V exm494306 5 149264392 [A/G] NM_000440 PDE6A EXON Missense_I626T exm494314 5 149265921 [T/C] NM_000440 PDE6A EXON Missense_R582H exm494315 5 149265922 [A/G] NM_000440 PDE6A EXON Missense_R582C exm494319 5 149274769 [T/G] NM_000440 PDE6A EXON Missense_Q569K exm494328 5 149275993 [G/C] NM_000440 PDE6A EXON Missense_L516V exm494329 5 149275999 [T/C] NM_000440 PDE6A EXON Missense_T514A exm494330 5 149276005 [A/G] NM_000440 PDE6A EXON Missense_P512S exm494335 5 149276063 [T/G] NM_000440 PDE6A EXON Missense_Q492H exm494339 5 149276279 [T/C] NM_000440 PDE6A EXON Missense_I490V exm494344 5 149278946 [A/G] NM_000440 PDE6A EXON Missense_L419F exm494348 5 149279030 [T/C] NM_000440 PDE6A EXON Missense_V391M exm494358 5 149286925 [T/G] NM_000440 PDE6A EXON Missense_H339N exm2257032 5 149293949 [A/G] NM_000440 PDE6A Silent exm494362 5 149294564 [T/G] NM_000440 PDE6A EXON Missense_N314H exm494366 5 149301223 [G/C] NM_000440 PDE6A EXON Missense_S303C exm494369 5 149301253 [A/G] NM_000440 PDE6A EXON Missense_P293L exm494370 5 149301261 [A/C] NM_000440 PDE6A EXON Missense_D290E exm494371 5 149310596 [T/G] NM_000440 PDE6A EXON Missense_Q285K exm494375 5 149310665 [T/C] NM_000440 PDE6A EXON Missense_A262T exm2091863 5 149310684 [A/G] NM_000440 PDE6A EXON Synonymous_I255I exm494382 5 149313563 [T/C] NM_000440 PDE6A EXON Missense_N216S exm494392 5 149314259 [A/G] NM_000440 PDE6A EXON Missense_V166A exm494395 5 149323804 [T/C] NM_000440 PDE6A EXON Missense_A145T exm494398 5 149323870 [A/C] NM_000440 PDE6A EXON Missense_D123Y exm494400 5 149323894 [T/C] NM_000440 PDE6A EXON Missense_V115I exm2091872 5 149323921 [T/C] NM_000440 PDE6A EXON Missense_A106T exm494402 5 149323933 [T/G] NM_000440 PDE6A EXON Missense_R102S exm494404 5 149323939 [A/G] NM_000440 PDE6A EXON Missense_R100W exm494405 5 149323955 [T/C] NM_000440 PDE6A EXON Missense_M94I exm494411 5 149324041 [A/G] NM_000440 PDE6A EXON Missense_R66W exm494422 5 149324152 [A/G] NM_000440 PDE6A EXON Missense_R29W exm494437 5 149357444 [A/C] NM_000112 SLC26A2 EXON Missense_N77H exm494445 5 149357747 [T/C] NM_000112 SLC26A2 EXON Nonsense_R178X exm494446 5 149357775 [A/G] NM_000112 SLC26A2 EXON Missense_N187S exm494449 5 149357870 [A/G] NM_000112 SLC26A2 EXON Missense_I219V exm494450 5 149357910 [A/T] NM_000112 SLC26A2 EXON Missense_Y232F exm494455 5 149359938 [C/G] NM_000112 SLC26A2 EXON Missense_S261C exm494457 5 149359991 [T/C] NM_000112 SLC26A2 EXON Missense_R279W exm494461 5 149360049 [A/G] NM_000112 SLC26A2 EXON Missense_H298R exm494469 5 149360202 [A/T] NM_000112 SLC26A2 EXON Missense_F349Y exm494471 5 149360237 [A/G] NM_000112 SLC26A2 EXON Missense_A361T exm494478 5 149360390 [A/G] NM_000112 SLC26A2 EXON Missense_V412I exm494482 5 149360451 [A/G] NM_000112 SLC26A2 EXON Missense_H432R exm494488 5 149360630 [T/C] NM_000112 SLC26A2 EXON Missense_R492W exm494490 5 149360691 [A/C] NM_000112 SLC26A2 EXON Missense_T512K exm494491 5 149360789 [T/C] NM_000112 SLC26A2 EXON Missense_R545C exm494492 5 149360877 [T/C] NM_000112 SLC26A2 EXON Missense_I574T exm494505 5 149361221 [T/A] NM_000112 SLC26A2 EXON Missense_T689S exm494507 5 149361243 [A/G] NM_000112 SLC26A2 EXON Missense_N696S exm494508 5 149361245 [A/G] NM_000112 SLC26A2 EXON Missense_G697R exm494516 5 149374399 [T/C] NM_001243253,NM_030953 TIGD6,TIGD6 EXON Missense_V505M,Missense_V505M exm494517 5 149374510 [T/C] NM_001243253,NM_030953 TIGD6,TIGD6 EXON Missense_E468K,Missense_E468K exm494518 5 149374515 [A/G] NM_001243253,NM_030953 TIGD6,TIGD6 EXON Missense_I466T,Missense_I466T exm494519 5 149374518 [A/G] NM_001243253,NM_030953 TIGD6,TIGD6 EXON Missense_T465I,Missense_T465I exm494522 5 149374585 [C/G] NM_001243253,NM_030953 TIGD6,TIGD6 EXON Missense_E443Q,Missense_E443Q exm494528 5 149374693 [T/C] NM_001243253,NM_030953 TIGD6,TIGD6 EXON Missense_I407V,Missense_I407V exm-IND5-149355072 5 149374880 [I/D] NM_001243253,NM_030953 TIGD6,TIGD6 EXON exm494540 5 149374932 [T/C] NM_001243253,NM_030953 TIGD6,TIGD6 EXON Missense_Q327R,Missense_Q327R exm494541 5 149374994 [G/C] NM_001243253,NM_030953 TIGD6,TIGD6 EXON Missense_N306K,Missense_N306K exm2091895 5 149375017 [T/G] NM_001243253,NM_030953 TIGD6,TIGD6 EXON Missense_Q299K,Missense_Q299K exm494542 5 149375034 [A/G] NM_001243253,NM_030953 TIGD6,TIGD6 EXON Missense_P293L,Missense_P293L exm494544 5 149375082 [T/C] NM_001243253,NM_030953 TIGD6,TIGD6 EXON Missense_R277H,Missense_R277H exm494545 5 149375110 [T/C] NM_001243253,NM_030953 TIGD6,TIGD6 EXON Missense_V268M,Missense_V268M exm494546 5 149375133 [A/G] NM_001243253,NM_030953 TIGD6,TIGD6 EXON Missense_L260P,Missense_L260P exm494561 5 149375411 [A/C] NM_001243253,NM_030953 TIGD6,TIGD6 EXON Missense_I167M,Missense_I167M exm494564 5 149375607 [T/C] NM_001243253,NM_030953 TIGD6,TIGD6 EXON Missense_R102Q,Missense_R102Q exm494569 5 149375692 [C/G] NM_001243253,NM_030953 TIGD6,TIGD6 EXON Missense_L74V,Missense_L74V exm494570 5 149375695 [T/C] NM_001243253,NM_030953 TIGD6,TIGD6 EXON Missense_A73T,Missense_A73T exm494572 5 149375713 [A/G] NM_001243253,NM_030953 TIGD6,TIGD6 EXON Missense_R67W,Missense_R67W exm-IND5-149355913 5 149375721 [D/I] NM_001243253,NM_030953 TIGD6,TIGD6 EXON exm494574 5 149375737 [A/G] NM_001243253,NM_030953 TIGD6,TIGD6 EXON Missense_R59W,Missense_R59W exm494576 5 149375884 [A/G] NM_001243253,NM_030953 TIGD6,TIGD6 EXON Missense_R10W,Missense_R10W exm494577 5 149375886 [T/C] NM_001243253,NM_030953 TIGD6,TIGD6 EXON Missense_R9H,Missense_R9H exm494578 5 149375896 [T/C] NM_001243253,NM_030953 TIGD6,TIGD6 EXON Missense_N6D,Missense_N6D exm494580 5 149384422 [A/G] NM_014983 HMGXB3 EXON Missense_A3T exm494592 5 149389968 [A/G] NM_014983 HMGXB3 EXON Missense_E203K exm494597 5 149390148 [A/G] NM_014983 HMGXB3 EXON Missense_V263I exm494599 5 149391845 [T/C] NM_014983 HMGXB3 EXON Missense_P280S exm494616 5 149404179 [T/G] NM_014983 HMGXB3 EXON Missense_V466L exm494619 5 149404213 [T/G] NM_014983 HMGXB3 EXON Missense_S477I exm494621 5 149406271 [T/C] NM_014983 HMGXB3 EXON Missense_A488V exm-rs2304069 5 149406733 [T/G] NM_014983 HMGXB3 Silent exm494628 5 149410319 [A/T] NM_014983 HMGXB3 EXON Missense_S584T exm494637 5 149416494 [A/G] NM_014983 HMGXB3 EXON Missense_G760E exm2261852 5 149431025 [T/C] NM_014983 HMGXB3 Silent exm494661 5 149431421 [A/G] NM_014983 HMGXB3 EXON Missense_G1182D exm2273413 5 149432863 [T/C] NM_005211 CSF1R EXON Silent exm2257033 5 149433752 [A/G] NM_005211 CSF1R EXON Synonymous_G933G exm494685 5 149433886 [T/C] NM_005211 CSF1R EXON Missense_R921Q exm494687 5 149433888 [G/C] NM_005211 CSF1R EXON Missense_E920D exm494688 5 149433890 [T/C] NM_005211 CSF1R EXON Missense_E920K exm494689 5 149433902 [T/C] NM_005211 CSF1R EXON Missense_E916K exm494712 5 149436930 [T/C] NM_005211 CSF1R EXON Missense_G747R exm494720 5 149439266 [T/C] NM_005211 CSF1R EXON Missense_R710H exm494730 5 149441113 [A/G] NM_005211 CSF1R EXON Missense_T600M exm494732 5 149441152 [A/G] NM_005211 CSF1R EXON Missense_T587I exm494742 5 149447852 [T/C] NM_005211 CSF1R EXON Missense_V518M exm494746 5 149447887 [T/G] NM_005211 CSF1R EXON Missense_H506P exm494756 5 149449781 [T/C] NM_005211 CSF1R EXON Missense_N428S exm494761 5 149449827 [T/C] NM_005211 CSF1R EXON Missense_G413S exm494769 5 149450132 [T/C] NM_005211 CSF1R EXON Missense_H362R exm494779 5 149456847 [T/C] NM_005211 CSF1R EXON Missense_R294Q exm494781 5 149456893 [T/C] NM_005211 CSF1R EXON Missense_V279M exm494782 5 149456926 [T/C] NM_005211 CSF1R EXON Missense_V268I exm494783 5 149456932 [T/C] NM_005211 CSF1R EXON Missense_D266N exm494786 5 149456964 [T/A] NM_005211 CSF1R EXON Missense_N255I exm494787 5 149456995 [A/C] NM_005211 CSF1R EXON Missense_A245S exm494790 5 149457683 [T/C] NM_005211 CSF1R EXON Missense_N241D exm494801 5 149459737 [A/G] NM_005211 CSF1R EXON Missense_S157L exm494803 5 149459750 [T/G] NM_005211 CSF1R EXON Missense_N153H exm494810 5 149459839 [C/G] NM_005211 CSF1R EXON Missense_A123G exm494813 5 149459891 [A/G] NM_005211 CSF1R EXON Missense_R106W exm494814 5 149459893 [A/G] NM_005211 CSF1R EXON Missense_A105V exm494835 5 149460542 [A/C] NM_005211 CSF1R EXON Missense_V32G exm494851 5 149495360 [A/G] NM_002609 PDGFRB EXON Missense_A1096V exm494852 5 149495372 [A/G] NM_002609 PDGFRB EXON Missense_S1092L exm494867 5 149497299 [T/C] NM_002609 PDGFRB EXON Missense_V1007I exm494869 5 149497346 [T/C] NM_002609 PDGFRB EXON Missense_R991H exm494893 5 149500451 [A/G] NM_002609 PDGFRB EXON Synonymous_S862S exm494902 5 149500767 [A/G] NM_002609 PDGFRB EXON Synonymous_N821N exm494911 5 149501575 [T/C] NM_002609 PDGFRB EXON Missense_G738S exm2275828 5 149502624 [A/C] NM_002609 PDGFRB EXON Missense_V722F exm494945 5 149509379 [T/C] NM_002609 PDGFRB EXON Missense_R507H exm494951 5 149509446 [T/C] NM_002609 PDGFRB EXON Missense_E485K exm494952 5 149509461 [T/C] NM_002609 PDGFRB EXON Missense_V480M exm494954 5 149509508 [A/G] NM_002609 PDGFRB EXON Missense_T464M exm494955 5 149509523 [T/C] NM_002609 PDGFRB EXON Missense_R459H exm494968 5 149512314 [A/G] NM_002609 PDGFRB EXON Missense_R376W exm2092037 5 149512332 [A/G] NM_002609 PDGFRB EXON Missense_R370C exm494980 5 149512406 [A/G] NM_002609 PDGFRB EXON Missense_P345L exm494981 5 149512407 [A/G] NM_002609 PDGFRB EXON Missense_P345S exm494986 5 149512440 [A/G] NM_002609 PDGFRB EXON Missense_R334W exm494988 5 149512494 [T/C] NM_002609 PDGFRB EXON Missense_V316M exm2242025 5 149513304 [A/G] NM_002609 PDGFRB EXON Missense_P260L exm494997 5 149513317 [A/G] NM_002609 PDGFRB EXON Missense_R256W exm495005 5 149514354 [T/C] NM_002609 PDGFRB EXON Missense_R197K exm495007 5 149514363 [A/G] NM_002609 PDGFRB EXON Missense_I194T exm495014 5 149514525 [A/G] NM_002609 PDGFRB EXON Missense_T140M exm495015 5 149514578 [A/G] NM_002609 PDGFRB EXON Synonymous_D122D exm495029 5 149515219 [A/G] NM_002609 PDGFRB EXON Missense_T88I exm2274107 5 149515232 [T/C] NM_002609 PDGFRB EXON Missense_V84M exm495034 5 149515306 [A/G] NM_002609 PDGFRB EXON Missense_P59L exm495040 5 149515397 [A/T] NM_002609 PDGFRB EXON Missense_I29F exm495042 5 149515439 [T/C] NM_002609 PDGFRB EXON Missense_E15K exm495043 5 149515440 [A/G] NM_002609 PDGFRB EXON Synonymous_G14G exm495045 5 149516594 [A/G] NM_002609 PDGFRB EXON Missense_A6V exm495070 5 149562429 [T/C] NM_001804 CDX1 EXON Missense_R182W exm2273414 5 149563715 [T/C] NM_001804 CDX1 EXON Silent exm495086 5 149569898 [A/G] NM_014228 SLC6A7 EXON Missense_K3R exm495093 5 149574339 [A/G] NM_014228 SLC6A7 EXON Missense_D28N exm2092063 5 149576685 [T/C] NM_014228 SLC6A7 EXON Missense_L144F exm-rs758593 5 149577919 [A/G] NM_014228 SLC6A7 Silent exm495124 5 149578820 [A/C] NM_014228 SLC6A7 EXON Missense_Q205P exm495126 5 149578846 [T/C] NM_014228 SLC6A7 EXON Missense_R214C exm2092079 5 149582191 [A/G] NM_014228 SLC6A7 EXON Missense_G338S exm2092080 5 149582209 [A/G] NM_014228 SLC6A7 EXON Missense_V344M exm495167 5 149584168 [T/C] NM_014228 SLC6A7 EXON Missense_T469M exm495173 5 149584438 [T/C] NM_014228 SLC6A7 EXON Missense_P494L exm495178 5 149585025 [A/C] NM_014228 SLC6A7 EXON Missense_M514L exm495182 5 149585074 [A/G] NM_014228 SLC6A7 EXON Missense_R530H exm495192 5 149589026 [T/C] NM_014228 SLC6A7 EXON Missense_R587W exm495266 5 149637163 [T/C] NM_015981,NM_171825 CAMK2A,CAMK2A EXON Missense_I79V,Missense_I79V exm495281 5 149676943 [A/C] NM_001012301 ARSI EXON Missense_F515C exm495291 5 149677112 [A/G] NM_001012301 ARSI EXON Missense_R459C exm495293 5 149677127 [A/G] NM_001012301 ARSI EXON Nonsense_R454X exm2092155 5 149677193 [T/C] NM_001012301 ARSI EXON Missense_G432S exm495312 5 149677373 [T/C] NM_001012301 ARSI EXON Missense_D372N exm495314 5 149677387 [A/C] NM_001012301 ARSI EXON Missense_G367V exm495324 5 149677472 [A/G] NM_001012301 ARSI EXON Missense_R339W exm495325 5 149677480 [T/C] NM_001012301 ARSI EXON Missense_R336Q exm495327 5 149677517 [A/G] NM_001012301 ARSI EXON Missense_R324W exm495342 5 149677750 [T/C] NM_001012301 ARSI EXON Missense_R246H exm495343 5 149677782 [G/C] NM_001012301 ARSI EXON Missense_F235L exm495345 5 149677807 [T/C] NM_001012301 ARSI EXON Missense_R227H exm495365 5 149678108 [T/C] NM_001012301 ARSI EXON Missense_D127N exm495370 5 149681648 [A/G] NM_001012301 ARSI EXON Missense_R97W exm495379 5 149681846 [A/C] NM_001012301 ARSI EXON Missense_G31W exm495388 5 149740732 [T/C] NM_001135244,NM_001008657,NM_000356,NM_001195141,NM_001135245,NM_001135243 TCOF1,TCOF1,TCOF1,TCOF1,TCOF1,TCOF1 EXON Missense_A41V,Missense_A41V,Missense_A41V,Missense_A41V,Missense_A41V,Missense_A41V exm495393 5 149743741 [A/G] NM_001135244,NM_001008657,NM_000356,NM_001195141,NM_001135245,NM_001135243 TCOF1,TCOF1,TCOF1,TCOF1,TCOF1,TCOF1 EXON Missense_R77H,Missense_R77H,Missense_R77H,Missense_R77H,Missense_R77H,Missense_R77H exm495395 5 149743806 [A/G] NM_001135244,NM_001008657,NM_000356,NM_001195141,NM_001135245,NM_001135243 TCOF1,TCOF1,TCOF1,TCOF1,TCOF1,TCOF1 EXON Missense_A99T,Missense_A99T,Missense_A99T,Missense_A99T,Missense_A99T,Missense_A99T exm495398 5 149747428 [A/G] NM_001135244,NM_001008657,NM_000356,NM_001195141,NM_001135245,NM_001135243 TCOF1,TCOF1,TCOF1,TCOF1,TCOF1,TCOF1 EXON Missense_N109S,Missense_N109S,Missense_N109S,Missense_N109S,Missense_N109S,Missense_N109S exm495404 5 149748384 [A/G] NM_001135244,NM_001008657,NM_000356,NM_001195141,NM_001135245,NM_001135243 TCOF1,TCOF1,TCOF1,TCOF1,TCOF1,TCOF1 EXON Missense_E162K,Missense_E162K,Missense_E162K,Missense_E162K,Missense_E162K,Missense_E162K exm495405 5 149748403 [T/C] NM_001135244,NM_001008657,NM_000356,NM_001195141,NM_001135245,NM_001135243 TCOF1,TCOF1,TCOF1,TCOF1,TCOF1,TCOF1 EXON Missense_T168M,Missense_T168M,Missense_T168M,Missense_T168M,Missense_T168M,Missense_T168M exm495419 5 149751605 [T/C] NM_001135244,NM_001008657,NM_000356,NM_001195141,NM_001135245,NM_001135243 TCOF1,TCOF1,TCOF1,TCOF1,TCOF1,TCOF1 EXON Missense_S226P,Missense_S226P,Silent,Missense_S226P,Silent,Missense_S226P exm495422 5 149751630 [G/C] NM_001135244,NM_001008657,NM_000356,NM_001195141,NM_001135245,NM_001135243 TCOF1,TCOF1,TCOF1,TCOF1,TCOF1,TCOF1 EXON Missense_P234R,Missense_P234R,Silent,Missense_P234R,Silent,Missense_P234R exm495431 5 149751756 [A/G] NM_001135244,NM_001008657,NM_000356,NM_001195141,NM_001135245,NM_001135243 TCOF1,TCOF1,TCOF1,TCOF1,TCOF1,TCOF1 EXON Missense_G276E,Missense_G276E,Silent,Missense_G276E,Silent,Missense_G276E exm495434 5 149751795 [A/G] NM_001135244,NM_001008657,NM_000356,NM_001195141,NM_001135245,NM_001135243 TCOF1,TCOF1,TCOF1,TCOF1,TCOF1,TCOF1 EXON Missense_S289N,Missense_S289N,Silent,Missense_S289N,Silent,Missense_S289N exm495440 5 149753894 [A/G] NM_001135244,NM_001008657,NM_000356,NM_001195141,NM_001135245,NM_001135243 TCOF1,TCOF1,TCOF1,TCOF1,TCOF1,TCOF1 EXON Missense_S343N,Missense_S343N,Missense_S266N,Missense_S343N,Missense_S266N,Missense_S343N exm495441 5 149753900 [A/G] NM_001135244,NM_001008657,NM_000356,NM_001195141,NM_001135245,NM_001135243 TCOF1,TCOF1,TCOF1,TCOF1,TCOF1,TCOF1 EXON Missense_E345G,Missense_E345G,Missense_E268G,Missense_E345G,Missense_E268G,Missense_E345G exm495446 5 149754216 [T/G] NM_001135244,NM_001008657,NM_000356,NM_001195141,NM_001135245,NM_001135243 TCOF1,TCOF1,TCOF1,TCOF1,TCOF1,TCOF1 EXON Missense_A374S,Missense_A374S,Missense_A297S,Missense_A374S,Missense_A297S,Missense_A374S exm495450 5 149754229 [T/C] NM_001135244,NM_001008657,NM_000356,NM_001195141,NM_001135245,NM_001135243 TCOF1,TCOF1,TCOF1,TCOF1,TCOF1,TCOF1 EXON Missense_A378V,Missense_A378V,Missense_A301V,Missense_A378V,Missense_A301V,Missense_A378V exm495451 5 149754313 [A/G] NM_001135244,NM_001008657,NM_000356,NM_001195141,NM_001135245,NM_001135243 TCOF1,TCOF1,TCOF1,TCOF1,TCOF1,TCOF1 EXON Missense_R406Q,Missense_R406Q,Missense_R329Q,Missense_R406Q,Missense_R329Q,Missense_R406Q exm495452 5 149754325 [T/C] NM_001135244,NM_001008657,NM_000356,NM_001195141,NM_001135245,NM_001135243 TCOF1,TCOF1,TCOF1,TCOF1,TCOF1,TCOF1 EXON Missense_S410L,Missense_S410L,Missense_S333L,Missense_S410L,Missense_S333L,Missense_S410L exm2257035 5 149754537 [A/C] NM_001135244,NM_001008657,NM_000356,NM_001195141,NM_001135245,NM_001135243 TCOF1,TCOF1,TCOF1,TCOF1,TCOF1,TCOF1 EXON Synonymous_A433A,Synonymous_A433A,Synonymous_A356A,Synonymous_A433A,Synonymous_A356A,Synonymous_A433A exm2092201 5 149754620 [T/C] NM_001135244,NM_001008657,NM_000356,NM_001195141,NM_001135245,NM_001135243 TCOF1,TCOF1,TCOF1,TCOF1,TCOF1,TCOF1 EXON Missense_P461L,Missense_P461L,Missense_P384L,Missense_P461L,Missense_P384L,Missense_P461L exm495462 5 149754628 [A/G] NM_001135244,NM_001008657,NM_000356,NM_001195141,NM_001135245,NM_001135243 TCOF1,TCOF1,TCOF1,TCOF1,TCOF1,TCOF1 EXON Missense_A464T,Missense_A464T,Missense_A387T,Missense_A464T,Missense_A387T,Missense_A464T exm495467 5 149754915 [A/G] NM_001135244,NM_001008657,NM_000356,NM_001195141,NM_001135245,NM_001135243 TCOF1,TCOF1,TCOF1,TCOF1,TCOF1,TCOF1 EXON Missense_G501E,Missense_G501E,Missense_G424E,Missense_G501E,Missense_G424E,Missense_G501E exm495469 5 149754948 [T/C] NM_001135244,NM_001008657,NM_000356,NM_001195141,NM_001135245,NM_001135243 TCOF1,TCOF1,TCOF1,TCOF1,TCOF1,TCOF1 EXON Missense_M512T,Missense_M512T,Missense_M435T,Missense_M512T,Missense_M435T,Missense_M512T exm495474 5 149754965 [A/G] NM_001135244,NM_001008657,NM_000356,NM_001195141,NM_001135245,NM_001135243 TCOF1,TCOF1,TCOF1,TCOF1,TCOF1,TCOF1 EXON Missense_G518R,Missense_G518R,Missense_G441R,Missense_G518R,Missense_G441R,Missense_G518R exm2092207 5 149755094 [C/G] NM_001135244,NM_001008657,NM_000356,NM_001195141,NM_001135245,NM_001135243 TCOF1,TCOF1,TCOF1,TCOF1,TCOF1,TCOF1 EXON Missense_P561A,Missense_P561A,Missense_P484A,Missense_P561A,Missense_P484A,Missense_P561A exm495486 5 149755302 [A/G] NM_001135244,NM_001008657,NM_000356,NM_001195141,NM_001135245,NM_001135243 TCOF1,TCOF1,TCOF1,TCOF1,TCOF1,TCOF1 EXON Missense_I575V,Missense_I575V,Missense_I498V,Missense_I575V,Missense_I498V,Missense_I575V exm495488 5 149755362 [A/G] NM_001135244,NM_001008657,NM_000356,NM_001195141,NM_001135245,NM_001135243 TCOF1,TCOF1,TCOF1,TCOF1,TCOF1,TCOF1 EXON Missense_V595I,Missense_V595I,Missense_V518I,Missense_V595I,Missense_V518I,Missense_V595I exm495496 5 149755443 [A/G] NM_001135244,NM_001008657,NM_000356,NM_001195141,NM_001135245,NM_001135243 TCOF1,TCOF1,TCOF1,TCOF1,TCOF1,TCOF1 EXON Missense_E622K,Missense_E622K,Missense_E545K,Missense_E622K,Missense_E545K,Missense_E622K exm495501 5 149755720 [A/G] NM_001135244,NM_001008657,NM_000356,NM_001195141,NM_001135245,NM_001135243 TCOF1,TCOF1,TCOF1,TCOF1,TCOF1,TCOF1 EXON Missense_A657T,Missense_A657T,Missense_A580T,Missense_A657T,Missense_A580T,Missense_A657T exm495502 5 149755744 [C/G] NM_001135244,NM_001008657,NM_000356,NM_001195141,NM_001135245,NM_001135243 TCOF1,TCOF1,TCOF1,TCOF1,TCOF1,TCOF1 EXON Missense_A665P,Missense_A665P,Missense_A588P,Missense_A665P,Missense_A588P,Missense_A665P exm495503 5 149755751 [A/G] NM_001135244,NM_001008657,NM_000356,NM_001195141,NM_001135245,NM_001135243 TCOF1,TCOF1,TCOF1,TCOF1,TCOF1,TCOF1 EXON Missense_R667Q,Missense_R667Q,Missense_R590Q,Missense_R667Q,Missense_R590Q,Missense_R667Q exm495507 5 149755839 [T/G] NM_001135244,NM_001008657,NM_000356,NM_001195141,NM_001135245,NM_001135243 TCOF1,TCOF1,TCOF1,TCOF1,TCOF1,TCOF1 EXON Missense_S696R,Missense_S696R,Missense_S619R,Missense_S696R,Missense_S619R,Missense_S696R exm495511 5 149755987 [T/C] NM_001135244,NM_001008657,NM_000356,NM_001195141,NM_001135245,NM_001135243 TCOF1,TCOF1,TCOF1,TCOF1,TCOF1,TCOF1 EXON Missense_A715V,Missense_A715V,Missense_A638V,Missense_A715V,Missense_A638V,Missense_A715V exm495513 5 149756031 [T/C] NM_001135244,NM_001008657,NM_000356,NM_001195141,NM_001135245,NM_001135243 TCOF1,TCOF1,TCOF1,TCOF1,TCOF1,TCOF1 EXON Missense_P730S,Missense_P730S,Missense_P653S,Missense_P730S,Missense_P653S,Missense_P730S exm495515 5 149756088 [T/C] NM_001135244,NM_001008657,NM_000356,NM_001195141,NM_001135245,NM_001135243 TCOF1,TCOF1,TCOF1,TCOF1,TCOF1,TCOF1 EXON Missense_P749S,Missense_P749S,Missense_P672S,Missense_P749S,Missense_P672S,Missense_P749S exm495530 5 149759096 [T/C] NM_001135244,NM_001008657,NM_000356,NM_001195141,NM_001135245,NM_001135243 TCOF1,TCOF1,TCOF1,TCOF1,TCOF1,TCOF1 EXON Missense_V887A,Missense_V887A,Missense_V810A,Missense_V887A,Missense_V810A,Missense_V887A exm495538 5 149759201 [T/C] NM_001135244,NM_001008657,NM_000356,NM_001195141,NM_001135245,NM_001135243 TCOF1,TCOF1,TCOF1,TCOF1,TCOF1,TCOF1 EXON Missense_S922L,Missense_S922L,Missense_S845L,Missense_S922L,Missense_S845L,Missense_S922L exm495540 5 149759278 [T/G] NM_001135244,NM_001008657,NM_000356,NM_001195141,NM_001135245,NM_001135243 TCOF1,TCOF1,TCOF1,TCOF1,TCOF1,TCOF1 EXON Missense_A948S,Missense_A948S,Missense_A871S,Missense_A948S,Missense_A871S,Missense_A948S exm495544 5 149763305 [A/G] NM_001135244,NM_001008657,NM_000356,NM_001195141,NM_001135245,NM_001135243 TCOF1,TCOF1,TCOF1,TCOF1,TCOF1,TCOF1 EXON Silent,Missense_Q955R,Silent,Silent,Silent,Silent exm495563 5 149771114 [A/G] NM_001135244,NM_000356,NM_001195141,NM_001135245,NM_001135243 TCOF1,TCOF1,TCOF1,TCOF1,TCOF1 EXON Silent,Missense_K987R,Silent,Missense_K987R,Missense_K1064R exm495566 5 149771164 [A/G] NM_001135244,NM_000356,NM_001195141,NM_001135245,NM_001135243 TCOF1,TCOF1,TCOF1,TCOF1,TCOF1 EXON Silent,Missense_A1004T,Silent,Missense_A1004T,Missense_A1081T exm495572 5 149771660 [T/G] NM_001135244,NM_000356,NM_001195141,NM_001135245,NM_001135243 TCOF1,TCOF1,TCOF1,TCOF1,TCOF1 EXON Missense_S1108R,Missense_S1069R,Missense_S1108R,Missense_S1069R,Missense_S1146R exm495577 5 149772280 [G/C] NM_001135244,NM_000356,NM_001195141,NM_001135245,NM_001135243 TCOF1,TCOF1,TCOF1,TCOF1,TCOF1 EXON Missense_P1139R,Missense_P1099R,Missense_P1138R,Missense_P1100R,Missense_P1176R exm495579 5 149772288 [T/A] NM_001135244,NM_000356,NM_001195141,NM_001135245,NM_001135243 TCOF1,TCOF1,TCOF1,TCOF1,TCOF1 EXON Missense_T1142S,Missense_T1102S,Missense_T1141S,Missense_T1103S,Missense_T1179S exm495585 5 149772936 [T/C] NM_001135244,NM_000356,NM_001195141,NM_001135245,NM_001135243 TCOF1,TCOF1,TCOF1,TCOF1,TCOF1 EXON Missense_S1164F,Missense_S1124F,Missense_S1163F,Missense_S1125F,Missense_S1201F exm495586 5 149772951 [A/G] NM_001135244,NM_000356,NM_001195141,NM_001135245,NM_001135243 TCOF1,TCOF1,TCOF1,TCOF1,TCOF1 EXON Missense_Y1169C,Missense_Y1129C,Missense_Y1168C,Missense_Y1130C,Missense_Y1206C exm495588 5 149773043 [A/G] NM_001135244,NM_000356,NM_001195141,NM_001135245,NM_001135243 TCOF1,TCOF1,TCOF1,TCOF1,TCOF1 EXON Missense_A1200T,Missense_A1160T,Missense_A1199T,Missense_A1161T,Missense_A1237T exm495591 5 149775932 [T/C] NM_001135244,NM_000356,NM_001195141,NM_001135245,NM_001135243 TCOF1,TCOF1,TCOF1,TCOF1,TCOF1 EXON Missense_A1253V,Missense_A1213V,Missense_A1252V,Missense_A1214V,Missense_A1290V exm495597 5 149776067 [A/G] NM_001135244,NM_000356,NM_001195141,NM_001135245,NM_001135243 TCOF1,TCOF1,TCOF1,TCOF1,TCOF1 EXON Missense_K1298R,Missense_K1258R,Missense_K1297R,Missense_K1259R,Missense_K1335R exm495603 5 149776232 [T/C] NM_001135244,NM_000356,NM_001195141,NM_001135245,NM_001135243 TCOF1,TCOF1,TCOF1,TCOF1,TCOF1 EXON Missense_A1353V,Missense_A1313V,Missense_A1352V,Missense_A1314V,Missense_A1390V exm495617 5 149777989 [T/C] NM_001135244,NM_000356,NM_001195141,NM_001135245,NM_001135243 TCOF1,TCOF1,TCOF1,TCOF1,TCOF1 EXON Missense_P1435L,Missense_P1395L,Missense_P1434L,Missense_P1396L,Missense_P1472L exm495629 5 149782166 [T/C] NM_001025158,NM_004355,NM_001025159 CD74,CD74,CD74 EXON Missense_R155H,Synonymous_P216P,Synonymous_P280P exm495631 5 149782174 [T/C] NM_001025158,NM_004355,NM_001025159 CD74,CD74,CD74 EXON Nonsense_W152X,Missense_E214K,Missense_E278K exm2092266 5 149782704 [T/C] NM_001025158,NM_004355,NM_001025159 CD74,CD74,CD74 EXON Silent,Silent,Missense_R266H exm495637 5 149782705 [A/G] NM_001025158,NM_004355,NM_001025159 CD74,CD74,CD74 EXON Silent,Silent,Missense_R266C exm495640 5 149782801 [T/C] NM_001025158,NM_004355,NM_001025159 CD74,CD74,CD74 EXON Silent,Silent,Missense_E234K exm495643 5 149782836 [A/G] NM_001025158,NM_004355,NM_001025159 CD74,CD74,CD74 EXON Silent,Silent,Missense_A222V exm495646 5 149784658 [A/G] NM_001025158,NM_004355,NM_001025159 CD74,CD74,CD74 EXON Silent,Missense_I176T,Missense_I176T exm495654 5 149786458 [G/C] NM_001025158,NM_004355,NM_001025159 CD74,CD74,CD74 EXON Missense_A122P,Missense_A122P,Missense_A122P exm495658 5 149786496 [A/G] NM_001025158,NM_004355,NM_001025159 CD74,CD74,CD74 EXON Missense_M109T,Missense_M109T,Missense_M109T exm495659 5 149786499 [T/C] NM_001025158,NM_004355,NM_001025159 CD74,CD74,CD74 EXON Missense_R108H,Missense_R108H,Missense_R108H exm495666 5 149786874 [T/C] NM_001025158,NM_004355,NM_001025159 CD74,CD74,CD74 EXON Missense_G47R,Missense_G47R,Missense_G47R exm2257036 5 149825239 [A/G] NM_005617,NM_001025070,NM_001025071 RPS14,RPS14,RPS14 EXON Synonymous_T107T,Synonymous_T107T,Synonymous_T107T exm495687 5 149826526 [T/C] NM_005617,NM_001025070,NM_001025071 RPS14,RPS14,RPS14 EXON Synonymous_K50K,Synonymous_K50K,Synonymous_K50K exm495706 5 149900889 [A/G] NM_001543 NDST1 EXON Missense_I25V exm495714 5 149901055 [A/G] NM_001543 NDST1 EXON Missense_R80H exm495720 5 149901150 [T/C] NM_001543 NDST1 EXON Missense_R112C exm2257037 5 149907602 [A/G] NM_001543 NDST1 EXON Synonymous_P250P exm495742 5 149907612 [A/G] NM_001543 NDST1 EXON Missense_A254T exm495753 5 149907757 [T/C] NM_001543 NDST1 EXON Missense_T302M exm495776 5 149915370 [T/C] NM_001543 NDST1 EXON Missense_R454C exm495780 5 149915421 [T/C] NM_001543 NDST1 EXON Missense_R471C exm495805 5 149925005 [C/G] NM_001543 NDST1 EXON Missense_T701S exm495822 5 149929316 [T/C] NM_001543 NDST1 EXON Missense_V798A exm495851 5 149998248 [G/C] NM_001166208,NM_001166209 SYNPO,SYNPO EXON Missense_D107H,Missense_D107H exm495867 5 150028009 [T/C] NM_001166208,NM_001166209,NM_001109974,NM_007286 SYNPO,SYNPO,SYNPO,SYNPO EXON Missense_P302S,Missense_P302S,Missense_P58S,Missense_P58S exm495885 5 150028408 [A/T] NM_001166208,NM_001166209,NM_001109974,NM_007286 SYNPO,SYNPO,SYNPO,SYNPO EXON Missense_S435T,Missense_S435T,Missense_S191T,Missense_S191T exm495889 5 150028577 [T/C] NM_001166208,NM_001166209,NM_001109974,NM_007286 SYNPO,SYNPO,SYNPO,SYNPO EXON Missense_A491V,Missense_A491V,Missense_A247V,Missense_A247V exm495891 5 150028582 [A/G] NM_001166208,NM_001166209,NM_001109974,NM_007286 SYNPO,SYNPO,SYNPO,SYNPO EXON Missense_G493R,Missense_G493R,Missense_G249R,Missense_G249R exm495895 5 150028639 [A/G] NM_001166208,NM_001166209,NM_001109974,NM_007286 SYNPO,SYNPO,SYNPO,SYNPO EXON Missense_K512E,Missense_K512E,Missense_K268E,Missense_K268E exm495897 5 150028651 [T/C] NM_001166208,NM_001166209,NM_001109974,NM_007286 SYNPO,SYNPO,SYNPO,SYNPO EXON Missense_P516S,Missense_P516S,Missense_P272S,Missense_P272S exm495899 5 150028663 [A/G] NM_001166208,NM_001166209,NM_001109974,NM_007286 SYNPO,SYNPO,SYNPO,SYNPO EXON Missense_S520G,Missense_S520G,Missense_S276G,Missense_S276G exm495901 5 150028685 [A/G] NM_001166208,NM_001166209,NM_001109974,NM_007286 SYNPO,SYNPO,SYNPO,SYNPO EXON Missense_R527Q,Missense_R527Q,Missense_R283Q,Missense_R283Q exm495905 5 150028773 [T/G] NM_001166208,NM_001166209,NM_001109974,NM_007286 SYNPO,SYNPO,SYNPO,SYNPO EXON Missense_L556F,Missense_L556F,Missense_L312F,Missense_L312F exm495907 5 150028796 [A/C] NM_001166208,NM_001166209,NM_001109974,NM_007286 SYNPO,SYNPO,SYNPO,SYNPO EXON Missense_T564N,Missense_T564N,Missense_T320N,Missense_T320N exm495918 5 150029071 [C/G] NM_001166208,NM_001166209,NM_001109974,NM_007286 SYNPO,SYNPO,SYNPO,SYNPO EXON Missense_G656R,Missense_G656R,Missense_G412R,Missense_G412R exm495919 5 150029083 [A/G] NM_001166208,NM_001166209,NM_001109974,NM_007286 SYNPO,SYNPO,SYNPO,SYNPO EXON Missense_V660M,Missense_V660M,Missense_V416M,Missense_V416M exm495922 5 150029146 [T/C] NM_001166208,NM_001166209,NM_001109974,NM_007286 SYNPO,SYNPO,SYNPO,SYNPO EXON Missense_R681C,Missense_R681C,Missense_R437C,Missense_R437C exm495926 5 150029171 [T/C] NM_001166208,NM_001166209,NM_001109974,NM_007286 SYNPO,SYNPO,SYNPO,SYNPO EXON Missense_A689V,Missense_A689V,Missense_A445V,Missense_A445V exm495943 5 150029501 [T/C] NM_001166208,NM_001166209,NM_001109974,NM_007286 SYNPO,SYNPO,SYNPO,SYNPO EXON Missense_L799P,Missense_L799P,Missense_L555P,Missense_L555P exm495947 5 150029579 [T/C] NM_001166208,NM_001166209,NM_001109974,NM_007286 SYNPO,SYNPO,SYNPO,SYNPO EXON Missense_A825V,Missense_A825V,Missense_A581V,Missense_A581V exm495950 5 150029605 [T/C] NM_001166208,NM_001166209,NM_001109974,NM_007286 SYNPO,SYNPO,SYNPO,SYNPO EXON Missense_P834S,Missense_P834S,Missense_P590S,Missense_P590S exm2092363 5 150029723 [A/C] NM_001166208,NM_001166209,NM_001109974,NM_007286 SYNPO,SYNPO,SYNPO,SYNPO EXON Missense_Q873P,Missense_Q873P,Missense_Q629P,Missense_Q629P exm495959 5 150029746 [A/G] NM_001166208,NM_001166209,NM_001109974,NM_007286 SYNPO,SYNPO,SYNPO,SYNPO EXON Missense_V881M,Missense_V881M,Missense_V637M,Missense_V637M exm495972 5 150036119 [A/G] NM_007286 SYNPO EXON Missense_M728V exm495996 5 150050049 [G/C] NM_001122853,NM_133371 MYOZ3,MYOZ3 EXON Missense_P22R,Missense_P22R exm496001 5 150050091 [T/C] NM_001122853,NM_133371 MYOZ3,MYOZ3 EXON Missense_L36P,Missense_L36P exm496002 5 150050114 [T/C] NM_001122853,NM_133371 MYOZ3,MYOZ3 EXON Missense_R44C,Missense_R44C exm496004 5 150050179 [T/G] NM_001122853,NM_133371 MYOZ3,MYOZ3 EXON Missense_E65D,Missense_E65D exm2092372 5 150050195 [T/C] NM_001122853,NM_133371 MYOZ3,MYOZ3 EXON Missense_R71W,Missense_R71W exm496007 5 150051171 [A/C] NM_001122853,NM_133371 MYOZ3,MYOZ3 EXON Missense_S77R,Missense_S77R exm496008 5 150051315 [A/G] NM_001122853,NM_133371 MYOZ3,MYOZ3 Silent,Silent exm496016 5 150051958 [T/C] NM_001122853,NM_133371 MYOZ3,MYOZ3 EXON Missense_S161P,Missense_S161P exm2257039 5 150056299 [T/G] NM_001122853,NM_133371 MYOZ3,MYOZ3 EXON Synonymous_V206V,Synonymous_V206V exm496028 5 150056367 [A/G] NM_001122853,NM_133371 MYOZ3,MYOZ3 EXON Missense_R229H,Missense_R229H exm496054 5 150073770 [A/G] NM_018047 RBM22 EXON Missense_T260M exm496073 5 150090781 [T/C] NM_016221,NM_001135643,NM_001135644 DCTN4,DCTN4,DCTN4 EXON Missense_S438N,Missense_S445N,Missense_S381N exm496078 5 150090845 [T/C] NM_016221,NM_001135643,NM_001135644 DCTN4,DCTN4,DCTN4 EXON Missense_V417M,Missense_V424M,Missense_V360M exm496081 5 150090866 [A/G] NM_016221,NM_001135643,NM_001135644 DCTN4,DCTN4,DCTN4 EXON Missense_R410C,Missense_R417C,Missense_R353C exm2092409 5 150097846 [T/C] NM_016221,NM_001135643,NM_001135644 DCTN4,DCTN4,DCTN4 EXON Missense_T355A,Missense_T362A,Missense_T298A exm496088 5 150097883 [G/C] NM_016221,NM_001135643,NM_001135644 DCTN4,DCTN4,DCTN4 EXON Missense_F342L,Missense_F349L,Missense_F285L exm496092 5 150097939 [C/G] NM_016221,NM_001135643,NM_001135644 DCTN4,DCTN4,DCTN4 EXON Missense_Q324E,Missense_Q331E,Missense_Q267E exm496093 5 150097945 [T/C] NM_016221,NM_001135643,NM_001135644 DCTN4,DCTN4,DCTN4 EXON Missense_E322K,Missense_E329K,Missense_E265K exm496095 5 150099330 [T/C] NM_016221,NM_001135643,NM_001135644 DCTN4,DCTN4,DCTN4 EXON Missense_N304S,Missense_N311S,Missense_N247S exm2092413 5 150102470 [T/C] NM_016221,NM_001135643,NM_001135644 DCTN4,DCTN4,DCTN4 EXON Missense_V303I,Missense_V310I,Missense_V246I exm496103 5 150110209 [T/C] NM_016221,NM_001135643,NM_001135644 DCTN4,DCTN4,DCTN4 EXON Missense_R273Q,Missense_R280Q,Missense_R216Q exm496104 5 150110239 [T/C] NM_016221,NM_001135643,NM_001135644 DCTN4,DCTN4,DCTN4 EXON Missense_Y263C,Missense_Y270C,Missense_Y206C exm496113 5 150110713 [T/C] NM_016221,NM_001135643,NM_001135644 DCTN4,DCTN4,DCTN4 EXON Missense_K206R,Missense_K213R,Missense_K149R exm496131 5 150121677 [T/C] NM_016221,NM_001135643,NM_001135644 DCTN4,DCTN4,DCTN4 EXON Missense_R143Q,Missense_R143Q,Missense_R86Q exm496132 5 150121678 [A/G] NM_016221,NM_001135643,NM_001135644 DCTN4,DCTN4,DCTN4 EXON Missense_R143W,Missense_R143W,Missense_R86W exm496145 5 150138495 [G/C] NM_016221,NM_001135643 DCTN4,DCTN4 EXON Missense_R21G,Missense_R21G exm2270257 5 150142849 [T/C] exm496174 5 150175109 [T/C] NM_032947 SMIM3 EXON Missense_S36L exm-rs13361189 5 150223387 [T/C] exm2257040 5 150226722 [A/C] NM_001145805 IRGM EXON Silent exm2275830 5 150227736 [C/G] NM_001145805 IRGM EXON Missense_E17D exm2242042 5 150227863 [T/G] NM_001145805 IRGM EXON Missense_G60C exm496182 5 150227966 [A/C] NM_001145805 IRGM EXON Missense_T94K exm-rs1000113 5 150240076 [T/C] exm-rs11747270 5 150258867 [A/G] exm-rs7714584 5 150270420 [A/G] exm496198 5 150275254 [A/G] NM_001172832,NM_052860,NM_001172831 ZNF300,ZNF300,ZNF300 EXON Missense_T480I,Missense_T516I,Missense_T532I exm2242045 5 150275357 [T/C] NM_001172832,NM_052860,NM_001172831 ZNF300,ZNF300,ZNF300 EXON Missense_I446V,Missense_I482V,Missense_I498V exm496216 5 150275777 [T/C] NM_001172832,NM_052860,NM_001172831 ZNF300,ZNF300,ZNF300 EXON Missense_I306V,Missense_I342V,Missense_I358V exm496226 5 150276152 [T/C] NM_001172832,NM_052860,NM_001172831 ZNF300,ZNF300,ZNF300 EXON Missense_G181R,Missense_G217R,Missense_G233R exm496228 5 150276193 [T/C] NM_001172832,NM_052860,NM_001172831 ZNF300,ZNF300,ZNF300 EXON Missense_C167Y,Missense_C203Y,Missense_C219Y exm496233 5 150276288 [A/C] NM_001172832,NM_052860,NM_001172831 ZNF300,ZNF300,ZNF300 EXON Missense_F135L,Missense_F171L,Missense_F187L exm496239 5 150276446 [T/C] NM_001172832,NM_052860,NM_001172831 ZNF300,ZNF300,ZNF300 EXON Missense_G83S,Missense_G119S,Missense_G135S exm496285 5 150406502 [A/G] NM_002084 GPX3 EXON Missense_V95I exm496290 5 150407037 [T/G] NM_002084 GPX3 EXON Missense_F135C exm496294 5 150407527 [T/C] NM_002084 GPX3 EXON Missense_P173S exm496326 5 150413290 [A/G] NM_001252392,NM_001258455,NM_001258454,NM_006058,NM_001258456,NM_001252391,NM_001252385,NM_001252386,NM_001252393,NM_001252390 TNIP1,TNIP1,TNIP1,TNIP1,TNIP1,TNIP1,TNIP1,TNIP1,TNIP1,TNIP1 EXON Missense_P553L,Silent,Missense_P553L,Missense_P553L,Silent,Missense_P553L,Missense_P553L,Missense_P500L,Missense_P553L,Missense_P553L exm496329 5 150413330 [A/G] NM_001252392,NM_001258455,NM_001258454,NM_006058,NM_001258456,NM_001252391,NM_001252385,NM_001252386,NM_001252393,NM_001252390 TNIP1,TNIP1,TNIP1,TNIP1,TNIP1,TNIP1,TNIP1,TNIP1,TNIP1,TNIP1 EXON Missense_H540Y,Silent,Missense_H540Y,Missense_H540Y,Silent,Missense_H540Y,Missense_H540Y,Missense_H487Y,Missense_H540Y,Missense_H540Y exm496330 5 150413333 [A/G] NM_001252392,NM_001258455,NM_001258454,NM_006058,NM_001258456,NM_001252391,NM_001252385,NM_001252386,NM_001252393,NM_001252390 TNIP1,TNIP1,TNIP1,TNIP1,TNIP1,TNIP1,TNIP1,TNIP1,TNIP1,TNIP1 EXON Missense_P539S,Silent,Missense_P539S,Missense_P539S,Silent,Missense_P539S,Missense_P539S,Missense_P486S,Missense_P539S,Missense_P539S exm496344 5 150416479 [C/G] NM_001252392,NM_001258455,NM_001258454,NM_006058,NM_001258456,NM_001252391,NM_001252385,NM_001252386,NM_001252393,NM_001252390 TNIP1,TNIP1,TNIP1,TNIP1,TNIP1,TNIP1,TNIP1,TNIP1,TNIP1,TNIP1 EXON Missense_L423V,Missense_L423V,Missense_L423V,Missense_L423V,Missense_L423V,Missense_L423V,Missense_L423V,Missense_L370V,Missense_L423V,Missense_L423V exm496345 5 150418695 [T/C] NM_001252392,NM_001258455,NM_001258454,NM_006058,NM_001258456,NM_001252391,NM_001252385,NM_001252386,NM_001252393,NM_001252390 TNIP1,TNIP1,TNIP1,TNIP1,TNIP1,TNIP1,TNIP1,TNIP1,TNIP1,TNIP1 EXON Missense_R409H,Missense_R409H,Missense_R409H,Missense_R409H,Missense_R409H,Missense_R409H,Missense_R409H,Missense_R356H,Missense_R409H,Missense_R409H exm496349 5 150422168 [T/C] NM_001252392,NM_001258455,NM_001258454,NM_006058,NM_001258456,NM_001252391,NM_001252385,NM_001252386,NM_001252393,NM_001252390 TNIP1,TNIP1,TNIP1,TNIP1,TNIP1,TNIP1,TNIP1,TNIP1,TNIP1,TNIP1 EXON Missense_R356Q,Missense_R356Q,Missense_R356Q,Missense_R356Q,Missense_R356Q,Missense_R356Q,Missense_R356Q,Missense_R303Q,Missense_R356Q,Missense_R356Q exm2092475 5 150425501 [A/G] NM_001252392,NM_001258455,NM_001258454,NM_006058,NM_001258456,NM_001252391,NM_001252385,NM_001252386,NM_001252393,NM_001252390 TNIP1,TNIP1,TNIP1,TNIP1,TNIP1,TNIP1,TNIP1,TNIP1,TNIP1,TNIP1 EXON Missense_T286M,Missense_T286M,Missense_T286M,Missense_T286M,Missense_T286M,Missense_T286M,Missense_T286M,Missense_T233M,Missense_T286M,Missense_T286M exm496369 5 150429443 [T/C] NM_001252392,NM_001258455,NM_001258454,NM_006058,NM_001258456,NM_001252391,NM_001252385,NM_001252386,NM_001252393,NM_001252390 TNIP1,TNIP1,TNIP1,TNIP1,TNIP1,TNIP1,TNIP1,TNIP1,TNIP1,TNIP1 EXON Missense_R263Q,Missense_R263Q,Missense_R263Q,Missense_R263Q,Missense_R263Q,Missense_R263Q,Missense_R263Q,Missense_R210Q,Missense_R263Q,Missense_R263Q exm496370 5 150429444 [A/G] NM_001252392,NM_001258455,NM_001258454,NM_006058,NM_001258456,NM_001252391,NM_001252385,NM_001252386,NM_001252393,NM_001252390 TNIP1,TNIP1,TNIP1,TNIP1,TNIP1,TNIP1,TNIP1,TNIP1,TNIP1,TNIP1 EXON Missense_R263W,Missense_R263W,Missense_R263W,Missense_R263W,Missense_R263W,Missense_R263W,Missense_R263W,Missense_R210W,Missense_R263W,Missense_R263W exm496371 5 150429452 [A/G] NM_001252392,NM_001258455,NM_001258454,NM_006058,NM_001258456,NM_001252391,NM_001252385,NM_001252386,NM_001252393,NM_001252390 TNIP1,TNIP1,TNIP1,TNIP1,TNIP1,TNIP1,TNIP1,TNIP1,TNIP1,TNIP1 EXON Missense_A260V,Missense_A260V,Missense_A260V,Missense_A260V,Missense_A260V,Missense_A260V,Missense_A260V,Missense_A207V,Missense_A260V,Missense_A260V exm2092480 5 150431727 [A/G] NM_001252392,NM_001258455,NM_001258454,NM_006058,NM_001258456,NM_001252391,NM_001252385,NM_001252386,NM_001252393,NM_001252390 TNIP1,TNIP1,TNIP1,TNIP1,TNIP1,TNIP1,TNIP1,TNIP1,TNIP1,TNIP1 EXON Missense_R241W,Missense_R241W,Missense_R241W,Missense_R241W,Missense_R241W,Missense_R241W,Missense_R241W,Missense_R188W,Missense_R241W,Missense_R241W exm496374 5 150431736 [T/C] NM_001252392,NM_001258455,NM_001258454,NM_006058,NM_001258456,NM_001252391,NM_001252385,NM_001252386,NM_001252393,NM_001252390 TNIP1,TNIP1,TNIP1,TNIP1,TNIP1,TNIP1,TNIP1,TNIP1,TNIP1,TNIP1 EXON Missense_E238K,Missense_E238K,Missense_E238K,Missense_E238K,Missense_E238K,Missense_E238K,Missense_E238K,Missense_E185K,Missense_E238K,Missense_E238K exm496381 5 150431799 [T/C] NM_001252392,NM_001258455,NM_001258454,NM_006058,NM_001258456,NM_001252391,NM_001252385,NM_001252386,NM_001252393,NM_001252390 TNIP1,TNIP1,TNIP1,TNIP1,TNIP1,TNIP1,TNIP1,TNIP1,TNIP1,TNIP1 EXON Missense_K217E,Missense_K217E,Missense_K217E,Missense_K217E,Missense_K217E,Missense_K217E,Missense_K217E,Missense_K164E,Missense_K217E,Missense_K217E exm496382 5 150431808 [T/G] NM_001252392,NM_001258455,NM_001258454,NM_006058,NM_001258456,NM_001252391,NM_001252385,NM_001252386,NM_001252393,NM_001252390 TNIP1,TNIP1,TNIP1,TNIP1,TNIP1,TNIP1,TNIP1,TNIP1,TNIP1,TNIP1 EXON Missense_Q214K,Missense_Q214K,Missense_Q214K,Missense_Q214K,Missense_Q214K,Missense_Q214K,Missense_Q214K,Missense_Q161K,Missense_Q214K,Missense_Q214K exm-rs3792794 5 150434722 [T/C] NM_001252392,NM_001258455,NM_001258454,NM_006058,NM_001258456,NM_001252391,NM_001252385,NM_001252386,NM_001252393,NM_001252390 TNIP1,TNIP1,TNIP1,TNIP1,TNIP1,TNIP1,TNIP1,TNIP1,TNIP1,TNIP1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm496385 5 150436422 [T/C] NM_001252392,NM_001258455,NM_001258454,NM_006058,NM_001258456,NM_001252391,NM_001252385,NM_001252386,NM_001252393,NM_001252390 TNIP1,TNIP1,TNIP1,TNIP1,TNIP1,TNIP1,TNIP1,TNIP1,TNIP1,TNIP1 EXON Missense_G178S,Missense_G178S,Missense_G178S,Missense_G178S,Missense_G178S,Missense_G178S,Missense_G178S,Missense_G125S,Missense_G178S,Missense_G178S exm496389 5 150436503 [G/C] NM_001252392,NM_001258455,NM_001258454,NM_006058,NM_001258456,NM_001252391,NM_001252385,NM_001252386,NM_001252393,NM_001252390 TNIP1,TNIP1,TNIP1,TNIP1,TNIP1,TNIP1,TNIP1,TNIP1,TNIP1,TNIP1 EXON Missense_P151A,Missense_P151A,Missense_P151A,Missense_P151A,Missense_P151A,Missense_P151A,Missense_P151A,Missense_P98A,Missense_P151A,Missense_P151A exm496391 5 150436517 [A/G] NM_001252392,NM_001258455,NM_001258454,NM_006058,NM_001258456,NM_001252391,NM_001252385,NM_001252386,NM_001252393,NM_001252390 TNIP1,TNIP1,TNIP1,TNIP1,TNIP1,TNIP1,TNIP1,TNIP1,TNIP1,TNIP1 EXON Missense_A146V,Missense_A146V,Missense_A146V,Missense_A146V,Missense_A146V,Missense_A146V,Missense_A146V,Missense_A93V,Missense_A146V,Missense_A146V exm496396 5 150439921 [G/C] NM_001252392,NM_001258455,NM_001258454,NM_006058,NM_001258456,NM_001252391,NM_001252385,NM_001252386,NM_001252393,NM_001252390 TNIP1,TNIP1,TNIP1,TNIP1,TNIP1,TNIP1,TNIP1,TNIP1,TNIP1,TNIP1 EXON Missense_E131D,Missense_E131D,Missense_E131D,Missense_E131D,Missense_E131D,Missense_E131D,Missense_E131D,Missense_E78D,Missense_E131D,Missense_E131D exm-rs2233287 5 150440097 [A/G] NM_001252392,NM_001258455,NM_001258454,NM_006058,NM_001258456,NM_001252391,NM_001252385,NM_001252386,NM_001252393,NM_001252390 TNIP1,TNIP1,TNIP1,TNIP1,TNIP1,TNIP1,TNIP1,TNIP1,TNIP1,TNIP1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm2242049 5 150441738 [A/G] NM_001252392,NM_001258455,NM_001258454,NM_006058,NM_001258456,NM_001252391,NM_001252385,NM_001252386,NM_001252393,NM_001252390 TNIP1,TNIP1,TNIP1,TNIP1,TNIP1,TNIP1,TNIP1,TNIP1,TNIP1,TNIP1 EXON Missense_P103S,Missense_P103S,Missense_P103S,Missense_P103S,Missense_P103S,Missense_P103S,Missense_P103S,Missense_P50S,Missense_P103S,Missense_P103S exm496397 5 150441761 [T/C] NM_001252392,NM_001258455,NM_001258454,NM_006058,NM_001258456,NM_001252391,NM_001252385,NM_001252386,NM_001252393,NM_001252390 TNIP1,TNIP1,TNIP1,TNIP1,TNIP1,TNIP1,TNIP1,TNIP1,TNIP1,TNIP1 EXON Missense_N95S,Missense_N95S,Missense_N95S,Missense_N95S,Missense_N95S,Missense_N95S,Missense_N95S,Missense_N42S,Missense_N95S,Missense_N95S exm496410 5 150444611 [T/C] NM_001252392,NM_001258455,NM_001258454,NM_006058,NM_001258456,NM_001252391,NM_001252385,NM_001252386,NM_001252393,NM_001252390 TNIP1,TNIP1,TNIP1,TNIP1,TNIP1,TNIP1,TNIP1,TNIP1,TNIP1,TNIP1 EXON Missense_V16M,Missense_V16M,Missense_V16M,Missense_V16M,Missense_V16M,Missense_V16M,Missense_V16M,Silent,Missense_V16M,Missense_V16M exm-rs10036748 5 150458146 [T/C] NM_001252392,NM_001258454,NM_006058,NM_001252391,NM_001252385,NM_001252386,NM_001252393,NM_001252390 TNIP1,TNIP1,TNIP1,TNIP1,TNIP1,TNIP1,TNIP1,TNIP1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm496415 5 150481022 [T/C] NM_001193544,NM_001155 ANXA6,ANXA6 EXON Missense_G638D,Missense_G670D exm496430 5 150489337 [T/C] NM_001193544,NM_001155 ANXA6,ANXA6 EXON Missense_R522Q,Missense_R554Q exm496436 5 150496701 [T/C] NM_001193544,NM_001155 ANXA6,ANXA6 EXON Missense_R488Q,Missense_R520Q exm496440 5 150496735 [A/G] NM_001193544,NM_001155 ANXA6,ANXA6 EXON Missense_R477C,Missense_R509C exm496441 5 150496738 [T/G] NM_001193544,NM_001155 ANXA6,ANXA6 EXON Missense_H476N,Missense_H508N exm496443 5 150497320 [A/G] NM_001193544,NM_001155 ANXA6,ANXA6 EXON Missense_T474M,Missense_T506M exm496444 5 150497395 [T/C] NM_001193544,NM_001155 ANXA6,ANXA6 EXON Missense_Y449C,Missense_Y481C exm496447 5 150498929 [A/G] NM_001193544,NM_001155 ANXA6,ANXA6 EXON Missense_A425V,Missense_A457V exm496448 5 150498939 [T/C] NM_001193544,NM_001155 ANXA6,ANXA6 EXON Missense_D422N,Missense_D454N exm496454 5 150502492 [A/C] NM_001193544,NM_001155 ANXA6,ANXA6 EXON Missense_S375A,Missense_S407A exm496468 5 150505996 [A/C] NM_001193544,NM_001155 ANXA6,ANXA6 EXON Missense_Q309H,Missense_Q341H exm496472 5 150509052 [G/C] NM_001193544,NM_001155 ANXA6,ANXA6 EXON Missense_M246I,Missense_M278I exm496479 5 150510838 [T/C] NM_001193544,NM_001155 ANXA6,ANXA6 EXON Missense_R218Q,Missense_R250Q exm496480 5 150512040 [T/C] NM_001193544,NM_001155 ANXA6,ANXA6 EXON Missense_V213I,Missense_V245I exm496489 5 150514023 [T/C] NM_001193544,NM_001155 ANXA6,ANXA6 EXON Missense_V139I,Missense_V171I exm496506 5 150518321 [A/G] NM_001193544,NM_001155 ANXA6,ANXA6 EXON Missense_T47M,Missense_T79M exm496516 5 150519008 [A/C] NM_001193544,NM_001155 ANXA6,ANXA6 EXON Missense_G5V,Missense_G37V exm496520 5 150519791 [T/C] NM_001193544,NM_001155 ANXA6,ANXA6 EXON Silent,Missense_R11Q exm-IND5-150542889 5 150562697 [I/D] NM_015621 CCDC69 EXON exm496534 5 150563075 [T/C] NM_015621 CCDC69 EXON Missense_V272I exm496539 5 150563114 [A/G] NM_015621 CCDC69 EXON Nonsense_R259X exm496544 5 150563149 [A/G] NM_015621 CCDC69 EXON Missense_T247M exm496545 5 150563153 [G/C] NM_015621 CCDC69 EXON Missense_L246V exm496547 5 150563938 [T/C] NM_015621 CCDC69 EXON Missense_H227R exm496557 5 150565006 [A/G] NM_015621 CCDC69 EXON Missense_R198W exm496558 5 150565008 [T/C] NM_015621 CCDC69 EXON Missense_R197K exm2242056 5 150566969 [T/C] NM_015621 CCDC69 EXON Missense_R124Q exm496568 5 150566985 [T/G] NM_015621 CCDC69 EXON Missense_L119I exm496573 5 150567015 [A/G] NM_015621 CCDC69 EXON Missense_R109W exm496575 5 150567017 [A/G] NM_015621 CCDC69 EXON Missense_L108P exm496579 5 150578576 [A/T] NM_015621 CCDC69 EXON Missense_N101Y exm496582 5 150581147 [T/C] NM_015621 CCDC69 EXON Missense_Q76R exm496584 5 150581210 [T/C] NM_015621 CCDC69 EXON Missense_R55Q exm496604 5 150632832 [A/G] NM_001167607,NM_000405 GM2A,GM2A EXON Missense_A19T,Missense_A19T exm2242058 5 150632855 [A/T] NM_001167607,NM_000405 GM2A,GM2A EXON Missense_K26N,Missense_K26N exm496607 5 150639329 [A/G] NM_001167607,NM_000405 GM2A,GM2A EXON Missense_S32N,Missense_S32N exm496611 5 150639409 [A/G] NM_001167607,NM_000405 GM2A,GM2A EXON Missense_I59V,Missense_I59V exm496614 5 150639439 [A/G] NM_001167607,NM_000405 GM2A,GM2A EXON Missense_M69V,Missense_M69V exm496616 5 150646302 [T/G] NM_001167607,NM_000405 GM2A,GM2A EXON Missense_V85G,Missense_V85G exm496627 5 150646888 [T/C] NM_001167607,NM_000405 GM2A,GM2A EXON Silent,Missense_V153A exm496629 5 150646936 [A/G] NM_001167607,NM_000405 GM2A,GM2A EXON Silent,Missense_R169H exm496651 5 150657130 [T/G] NM_001145017,NM_181774 SLC36A3,SLC36A3 EXON Missense_L454I,Missense_L413I exm496664 5 150660609 [T/G] NM_001145017,NM_181774 SLC36A3,SLC36A3 EXON Missense_D411E,Missense_D370E exm2092600 5 150660628 [A/C] NM_001145017,NM_181774 SLC36A3,SLC36A3 EXON Missense_S405I,Missense_S364I exm496681 5 150664199 [A/G] NM_001145017,NM_181774 SLC36A3,SLC36A3 EXON Missense_I302T,Missense_I261T exm496686 5 150664262 [T/C] NM_001145017,NM_181774 SLC36A3,SLC36A3 EXON Missense_Y281C,Missense_Y240C exm496691 5 150666907 [A/G] NM_001145017,NM_181774 SLC36A3,SLC36A3 EXON Missense_L244S,Missense_L203S exm496695 5 150666962 [A/G] NM_001145017,NM_181774 SLC36A3,SLC36A3 EXON Missense_P226S,Missense_P185S exm496696 5 150666974 [T/G] NM_001145017,NM_181774 SLC36A3,SLC36A3 EXON Missense_L222M,Missense_L181M exm496697 5 150667007 [T/C] NM_001145017,NM_181774 SLC36A3,SLC36A3 EXON Missense_V211M,Missense_V170M exm496698 5 150667016 [T/C] NM_001145017,NM_181774 SLC36A3,SLC36A3 EXON Missense_K208E,Missense_K167E exm496707 5 150672982 [A/G] NM_001145017,NM_181774 SLC36A3,SLC36A3 EXON Missense_M116T,Missense_M116T exm2092620 5 150675798 [A/G] NM_001145017,NM_181774 SLC36A3,SLC36A3 EXON Missense_V84A,Missense_V84A exm496716 5 150675801 [T/C] NM_001145017,NM_181774 SLC36A3,SLC36A3 EXON Missense_G83E,Missense_G83E exm496718 5 150675808 [T/C] NM_001145017,NM_181774 SLC36A3,SLC36A3 EXON Missense_A81T,Missense_A81T exm496722 5 150682801 [T/C] NM_001145017,NM_181774 SLC36A3,SLC36A3 EXON Missense_E39K,Missense_E39K exm496725 5 150682864 [T/C] NM_001145017,NM_181774 SLC36A3,SLC36A3 EXON Missense_G18R,Missense_G18R exm496734 5 150696419 [T/C] NM_181776 SLC36A2 EXON Missense_D471N exm2092636 5 150701661 [A/G] NM_181776 SLC36A2 EXON Missense_R376C exm496766 5 150701673 [A/G] NM_181776 SLC36A2 EXON Missense_R372W exm496770 5 150701744 [A/G] NM_181776 SLC36A2 EXON Missense_A348V exm2092640 5 150704899 [A/G] NM_181776 SLC36A2 EXON Missense_R320W exm496777 5 150704907 [C/G] NM_181776 SLC36A2 EXON Missense_G317A exm496781 5 150704946 [A/G] NM_181776 SLC36A2 EXON Missense_S304F exm496783 5 150704980 [A/G] NM_181776 SLC36A2 EXON Missense_R293C exm496790 5 150712837 [G/C] NM_181776 SLC36A2 EXON Missense_T264S exm496797 5 150715021 [T/C] NM_181776 SLC36A2 EXON Missense_M205V exm496799 5 150715030 [A/G] NM_181776 SLC36A2 EXON Nonsense_R202X exm496802 5 150715047 [A/G] NM_181776 SLC36A2 EXON Missense_T196I exm2266129 5 150716364 [A/G] NM_181776 SLC36A2 Silent exm496809 5 150718634 [T/C] NM_181776 SLC36A2 EXON Missense_D171G exm496813 5 150722459 [A/G] NM_181776 SLC36A2 EXON Missense_H144Y exm496817 5 150722504 [A/G] NM_181776 SLC36A2 EXON Missense_H129Y exm496820 5 150723069 [A/G] NM_181776 SLC36A2 Silent exm496821 5 150723092 [T/C] NM_181776 SLC36A2 EXON Missense_C108Y exm496824 5 150723155 [A/C] NM_181776 SLC36A2 EXON Missense_G87V exm496827 5 150723761 [T/C] NM_181776 SLC36A2 EXON Missense_A78T exm496837 5 150726946 [T/C] NM_181776 SLC36A2 EXON Missense_S26G exm496842 5 150838427 [T/C] NM_078483 SLC36A1 EXON Missense_P25L exm496851 5 150838496 [T/C] NM_078483 SLC36A1 EXON Missense_T48I exm2276788 5 150846761 [C/G] NM_078483 SLC36A1 EXON Missense_R141G exm496871 5 150847269 [T/C] NM_078483 SLC36A1 EXON Missense_V169A exm496874 5 150847324 [T/G] NM_078483 SLC36A1 EXON Missense_I187M exm2092687 5 150853331 [T/C] NM_078483 SLC36A1 EXON Missense_M274T exm496896 5 150858952 [T/C] NM_078483 SLC36A1 EXON Missense_P354L exm496897 5 150858977 [T/G] NM_078483 SLC36A1 EXON Missense_F362L exm496915 5 150867742 [A/G] NM_078483 SLC36A1 EXON Missense_Y453C exm496917 5 150867793 [A/G] NM_078483 SLC36A1 EXON Missense_N470S exm496927 5 150885263 [T/C] NM_001447 FAT2 EXON Missense_A4305T exm496933 5 150885322 [G/C] NM_001447 FAT2 EXON Missense_G4285A exm496937 5 150885412 [T/C] NM_001447 FAT2 EXON Missense_R4255Q exm496939 5 150885451 [T/C] NM_001447 FAT2 EXON Missense_R4242H exm496943 5 150885550 [T/C] NM_001447 FAT2 EXON Missense_R4209H exm496946 5 150885608 [A/G] NM_001447 FAT2 EXON Missense_R4190C exm496952 5 150886768 [G/C] NM_001447 FAT2 EXON Missense_S4155C exm496955 5 150886820 [A/G] NM_001447 FAT2 EXON Missense_R4138W exm496956 5 150886882 [A/G] NM_001447 FAT2 EXON Missense_P4117L exm496958 5 150886912 [T/C] NM_001447 FAT2 EXON Missense_S4107N exm2242066 5 150887018 [A/G] NM_001447 FAT2 EXON Missense_R4072C exm496967 5 150887066 [T/C] NM_001447 FAT2 EXON Missense_V4056M exm496972 5 150887120 [T/C] NM_001447 FAT2 EXON Missense_E4038K exm496979 5 150889652 [T/C] NM_001447 FAT2 EXON Missense_E3997K exm496982 5 150891762 [A/G] NM_001447 FAT2 EXON Missense_L3957F exm496983 5 150891768 [T/G] NM_001447 FAT2 EXON Missense_T3955P exm496984 5 150891772 [C/G] NM_001447 FAT2 EXON Missense_Q3953H exm496986 5 150891806 [G/C] NM_001447 FAT2 EXON Missense_T3942S exm497000 5 150892080 [T/C] NM_001447 FAT2 EXON Missense_E3851K exm497003 5 150897192 [T/C] NM_001447 FAT2 EXON Missense_V3818I exm497006 5 150897236 [A/G] NM_001447 FAT2 EXON Missense_L3803P exm497008 5 150897269 [T/C] NM_001447 FAT2 EXON Missense_R3792Q exm497009 5 150897290 [T/C] NM_001447 FAT2 EXON Missense_R3785Q exm497016 5 150900899 [A/C] NM_001447 FAT2 EXON Missense_S3752I exm2257041 5 150901111 [A/G] NM_001447 FAT2 EXON Synonymous_D3681D exm497034 5 150901209 [A/G] NM_001447 FAT2 EXON Missense_R3649W exm497037 5 150901242 [A/G] NM_001447 FAT2 EXON Missense_L3638F exm497038 5 150901261 [T/C] NM_001447 FAT2 EXON Missense_M3631I exm497048 5 150901476 [G/C] NM_001447 FAT2 EXON Missense_P3560A exm497052 5 150901530 [C/G] NM_001447 FAT2 EXON Missense_E3542Q exm497056 5 150901601 [T/C] NM_001447 FAT2 EXON Missense_R3518H exm497057 5 150901610 [A/G] NM_001447 FAT2 EXON Missense_T3515M exm497058 5 150901613 [A/G] NM_001447 FAT2 EXON Missense_L3514S exm497086 5 150907564 [T/C] NM_001447 FAT2 EXON Missense_R3386Q exm497088 5 150907573 [A/G] NM_001447 FAT2 EXON Missense_A3383V exm497094 5 150907694 [A/C] NM_001447 FAT2 EXON Missense_V3343L exm497096 5 150908750 [T/C] NM_001447 FAT2 EXON Missense_V3339I exm497100 5 150908812 [T/C] NM_001447 FAT2 EXON Missense_R3318Q exm497101 5 150908813 [A/G] NM_001447 FAT2 EXON Missense_R3318W exm497106 5 150908855 [T/C] NM_001447 FAT2 EXON Missense_V3304M exm497127 5 150911349 [T/C] NM_001447 FAT2 EXON Missense_V3204I exm497162 5 150920157 [T/C] NM_001447 FAT2 EXON Missense_V3004I exm497176 5 150921969 [T/C] NM_001447 FAT2 EXON Missense_A2907T exm497178 5 150921981 [G/C] NM_001447 FAT2 EXON Missense_A2903P exm497184 5 150922080 [T/C] NM_001447 FAT2 EXON Missense_T2870A exm497189 5 150922171 [T/G] NM_001447 FAT2 EXON Missense_D2839E exm2092775 5 150922506 [A/G] NM_001447 FAT2 EXON Missense_R2728W exm497209 5 150922577 [A/C] NM_001447 FAT2 EXON Missense_L2704R exm497210 5 150922589 [A/G] NM_001447 FAT2 EXON Missense_A2700V exm497217 5 150922715 [A/T] NM_001447 FAT2 EXON Missense_D2658V exm497218 5 150922730 [T/C] NM_001447 FAT2 EXON Missense_E2653G exm497234 5 150923141 [A/G] NM_001447 FAT2 EXON Missense_I2516T exm497238 5 150923225 [A/G] NM_001447 FAT2 EXON Missense_A2488V exm497258 5 150923780 [T/C] NM_001447 FAT2 EXON Missense_R2303Q exm497259 5 150923781 [A/G] NM_001447 FAT2 EXON Missense_R2303W exm497260 5 150923831 [A/G] NM_001447 FAT2 EXON Missense_P2286L exm497264 5 150924087 [A/G] NM_001447 FAT2 EXON Missense_L2201F exm497270 5 150924212 [A/G] NM_001447 FAT2 EXON Missense_V2159A exm497272 5 150924239 [A/G] NM_001447 FAT2 EXON Missense_T2150M exm497276 5 150924330 [A/G] NM_001447 FAT2 EXON Missense_P2120S exm497280 5 150924433 [T/C] NM_001447 FAT2 EXON Synonymous_P2085P exm2257042 5 150924433 [T/C] NM_001447 FAT2 EXON Synonymous_P2085P exm497284 5 150924527 [C/G] NM_001447 FAT2 EXON Missense_G2054A exm497299 5 150924879 [A/G] NM_001447 FAT2 EXON Missense_R1937W exm497302 5 150924962 [A/G] NM_001447 FAT2 EXON Missense_T1909I exm497303 5 150924968 [A/G] NM_001447 FAT2 EXON Missense_I1907T exm497307 5 150925005 [A/G] NM_001447 FAT2 EXON Missense_R1895W exm2092792 5 150925041 [T/C] NM_001447 FAT2 EXON Missense_G1883R exm497310 5 150925046 [A/G] NM_001447 FAT2 EXON Missense_I1881T exm497311 5 150925059 [A/G] NM_001447 FAT2 EXON Missense_Y1877H exm497312 5 150925143 [T/C] NM_001447 FAT2 EXON Missense_V1849I exm497314 5 150925176 [A/G] NM_001447 FAT2 EXON Missense_F1838L exm497315 5 150925211 [A/G] NM_001447 FAT2 EXON Missense_S1826L exm497333 5 150925740 [T/C] NM_001447 FAT2 EXON Missense_V1650I exm497338 5 150925820 [T/C] NM_001447 FAT2 EXON Missense_H1623R exm497339 5 150925848 [C/G] NM_001447 FAT2 EXON Missense_L1614V exm497341 5 150925883 [A/G] NM_001447 FAT2 EXON Missense_F1602S exm497344 5 150925893 [T/C] NM_001447 FAT2 EXON Missense_S1599G exm497349 5 150928907 [T/C] NM_001447 FAT2 EXON Missense_M1580V exm497350 5 150928934 [T/C] NM_001447 FAT2 EXON Missense_G1571S exm497353 5 150928947 [T/G] NM_001447 FAT2 EXON Missense_D1566E exm497355 5 150929005 [A/T] NM_001447 FAT2 EXON Missense_D1547V exm497359 5 150930186 [T/C] NM_001447 FAT2 EXON Missense_G1515S exm497361 5 150930192 [T/C] NM_001447 FAT2 EXON Missense_D1513N exm497364 5 150930323 [T/C] NM_001447 FAT2 EXON Missense_R1469Q exm497367 5 150930345 [T/C] NM_001447 FAT2 EXON Missense_V1462M exm497369 5 150930360 [T/C] NM_001447 FAT2 EXON Missense_V1457I exm497385 5 150932879 [A/G] NM_001447 FAT2 EXON Missense_W1339R exm497387 5 150932918 [A/G] NM_001447 FAT2 EXON Missense_L1326F exm497388 5 150933984 [A/G] NM_001447 FAT2 EXON Missense_L1295P exm2092818 5 150934165 [T/C] NM_001447 FAT2 EXON Missense_V1235I exm497399 5 150934209 [T/G] NM_001447 FAT2 EXON Missense_P1220H exm497407 5 150942919 [A/G] NM_001447 FAT2 EXON Missense_Y1181H exm497409 5 150942969 [A/G] NM_001447 FAT2 EXON Missense_P1164L exm497411 5 150942985 [T/G] NM_001447 FAT2 EXON Missense_L1159M exm497412 5 150942987 [T/G] NM_001447 FAT2 EXON Missense_Q1158P exm497415 5 150943061 [T/G] NM_001447 FAT2 EXON Missense_N1133K exm497416 5 150943074 [T/C] NM_001447 FAT2 EXON Missense_D1129G exm-rs2304054 5 150943085 [A/G] NM_001447 FAT2 EXON Synonymous_I1125I exm497422 5 150943164 [A/G] NM_001447 FAT2 EXON Missense_F1099S exm497425 5 150945261 [T/C] NM_001447 FAT2 EXON Missense_A1078T exm497435 5 150945465 [A/G] NM_001447 FAT2 EXON Missense_R1010C exm497438 5 150945483 [T/C] NM_001447 FAT2 EXON Missense_G1004S exm497440 5 150945518 [T/C] NM_001447 FAT2 EXON Missense_R992Q exm497449 5 150945575 [A/C] NM_001447 FAT2 EXON Missense_R973L exm2092832 5 150945824 [A/G] NM_001447 FAT2 EXON Missense_I890T exm497462 5 150945830 [T/C] NM_001447 FAT2 EXON Missense_R888Q exm2242073 5 150945996 [T/C] NM_001447 FAT2 EXON Missense_T833A exm497478 5 150946029 [A/G] NM_001447 FAT2 EXON Missense_P822S exm497481 5 150946073 [A/G] NM_001447 FAT2 EXON Missense_T807I exm497486 5 150946230 [A/C] NM_001447 FAT2 EXON Missense_A755S exm497491 5 150946328 [A/G] NM_001447 FAT2 EXON Missense_I722T exm497496 5 150946436 [A/G] NM_001447 FAT2 EXON Missense_F686S exm497498 5 150946478 [T/C] NM_001447 FAT2 EXON Missense_K672R exm497501 5 150946613 [T/C] NM_001447 FAT2 EXON Missense_N627S exm497502 5 150946644 [T/C] NM_001447 FAT2 EXON Missense_G617R exm497506 5 150946706 [T/C] NM_001447 FAT2 EXON Missense_N596S exm497507 5 150946743 [T/A] NM_001447 FAT2 EXON Missense_M584L exm497508 5 150946762 [A/C] NM_001447 FAT2 EXON Missense_W577C exm497509 5 150946773 [A/G] NM_001447 FAT2 EXON Missense_R574C exm497514 5 150946827 [T/G] NM_001447 FAT2 EXON Missense_N556H exm2257043 5 150946966 [A/G] NM_001447 FAT2 EXON Synonymous_P509P exm497519 5 150947039 [A/C] NM_001447 FAT2 EXON Missense_R485L exm497524 5 150947162 [A/G] NM_001447 FAT2 EXON Missense_V444A exm497527 5 150947216 [T/C] NM_001447 FAT2 EXON Missense_R426K exm497528 5 150947220 [T/C] NM_001447 FAT2 EXON Missense_D425N exm497531 5 150947252 [A/C] NM_001447 FAT2 EXON Missense_L414W exm497540 5 150947390 [T/C] NM_001447 FAT2 EXON Missense_R368K exm497542 5 150947407 [G/C] NM_001447 FAT2 EXON Missense_F362L exm497549 5 150947664 [C/G] NM_001447 FAT2 EXON Missense_V277L exm497554 5 150947751 [A/G] NM_001447 FAT2 EXON Missense_P248S exm497560 5 150947818 [T/G] NM_001447 FAT2 EXON Missense_D225E exm497564 5 150947891 [C/G] NM_001447 FAT2 EXON Missense_G201A exm497576 5 150948224 [T/C] NM_001447 FAT2 EXON Missense_G90D exm497580 5 150948288 [T/C] NM_001447 FAT2 EXON Missense_V69M exm497581 5 150948290 [A/G] NM_001447 FAT2 EXON Missense_A68V exm2257044 5 150951581 [A/G] exm497599 5 151045923 [T/C] NM_003118 SPARC EXON Missense_G245R exm497603 5 151045950 [T/C] NM_003118 SPARC EXON Missense_G236S exm497607 5 151045999 [T/G] NM_003118 SPARC EXON Missense_D219E exm497611 5 151047030 [A/G] NM_003118 SPARC EXON Missense_R195W exm497637 5 151052711 [T/C] NM_003118 SPARC EXON Missense_E63K exm497639 5 151052741 [T/C] NM_003118 SPARC EXON Missense_G53R exm497645 5 151055695 [A/G] NM_003118 SPARC EXON Missense_P19S exm497649 5 151125991 [T/G] NM_004045 ATOX1 EXON Missense_D34E exm2242078 5 151173808 [A/C] NM_005754,NM_198395 G3BP1,G3BP1 EXON Missense_E147A,Missense_E147A exm497669 5 151176801 [G/C] NM_005754,NM_198395 G3BP1,G3BP1 EXON Missense_E185Q,Missense_E185Q exm497689 5 151179780 [T/C] NM_005754,NM_198395 G3BP1,G3BP1 EXON Synonymous_I319I,Synonymous_I319I exm497698 5 151183601 [A/G] NM_005754,NM_198395 G3BP1,G3BP1 EXON Missense_M450I,Missense_M450I exm497705 5 151202288 [A/C] NM_000171,NM_001146040 GLRA1,GLRA1 EXON Missense_M432I,Missense_M440I exm497709 5 151202370 [T/C] NM_000171,NM_001146040 GLRA1,GLRA1 EXON Missense_R405Q,Missense_R413Q exm497713 5 151202403 [A/G] NM_000171,NM_001146040 GLRA1,GLRA1 EXON Missense_P394L,Missense_P402L exm497715 5 151202418 [T/G] NM_000171,NM_001146040 GLRA1,GLRA1 EXON Missense_N389T,Missense_N397T exm497717 5 151202476 [T/C] NM_000171,NM_001146040 GLRA1,GLRA1 EXON Missense_G370S,Missense_G378S exm497723 5 151208495 [T/C] NM_000171,NM_001146040 GLRA1,GLRA1 EXON Missense_R349Q,Missense_R349Q exm497726 5 151208510 [T/C] NM_000171,NM_001146040 GLRA1,GLRA1 EXON Missense_R344Q,Missense_R344Q exm497756 5 151266335 [T/C] NM_000171,NM_001146040 GLRA1,GLRA1 EXON Missense_V67M,Missense_V67M exm2266026 5 151270122 [A/G] NM_000171,NM_001146040 GLRA1,GLRA1 Silent,Silent exm2092942 5 151304088 [C/G] NM_000171,NM_001146040 GLRA1,GLRA1 EXON Missense_R8P,Missense_R8P exm-rs170020 5 151344558 [A/G] exm2270258 5 151656669 [T/C] exm-rs1010254 5 151734109 [T/C] exm497777 5 151771817 [T/C] NM_020167 NMUR2 EXON Missense_A395T exm497778 5 151771838 [T/C] NM_020167 NMUR2 EXON Missense_M388V exm497780 5 151771852 [A/G] NM_020167 NMUR2 EXON Missense_P383L exm497781 5 151771874 [T/C] NM_020167 NMUR2 EXON Missense_E376K exm497782 5 151771898 [C/G] NM_020167 NMUR2 EXON Missense_E368Q exm497787 5 151772055 [T/G] NM_020167 NMUR2 EXON Missense_F315L exm497789 5 151775064 [C/G] NM_020167 NMUR2 EXON Missense_S298T exm497793 5 151775137 [T/C] NM_020167 NMUR2 EXON Missense_V274I exm497795 5 151775145 [A/G] NM_020167 NMUR2 EXON Missense_F271S exm497796 5 151777623 [A/G] NM_020167 NMUR2 EXON Missense_L270P exm497799 5 151777696 [G/C] NM_020167 NMUR2 EXON Missense_D246H exm497804 5 151784058 [A/T] NM_020167 NMUR2 EXON Missense_V206D exm2092956 5 151784206 [A/G] NM_020167 NMUR2 EXON Nonsense_Q157X exm497813 5 151784212 [T/C] NM_020167 NMUR2 EXON Missense_K155E exm497820 5 151784266 [T/G] NM_020167 NMUR2 EXON Missense_I137L exm497832 5 151784448 [A/C] NM_020167 NMUR2 EXON Missense_M76R exm497833 5 151784453 [A/C] NM_020167 NMUR2 EXON Missense_Q74H exm497834 5 151784459 [A/C] NM_020167 NMUR2 EXON Missense_Q72H exm497836 5 151784533 [A/C] NM_020167 NMUR2 EXON Missense_V48L exm497838 5 151784557 [A/G] NM_020167 NMUR2 EXON Missense_R40W exm497839 5 151784592 [A/C] NM_020167 NMUR2 EXON Missense_S28I exm2264136 5 151815911 [A/C] exm2266027 5 152279502 [A/G] exm2261856 5 152621660 [A/G] exm497846 5 152870529 [A/C] NM_001114183,NM_000827,NR_047578,NM_001258019,NM_001258020 GRIA1,GRIA1,GRIA1,GRIA1,GRIA1 EXON Synonymous_I27I,Synonymous_I27I,Silent,Synonymous_I27I,Silent exm-rs4145160 5 152874549 [A/G] NM_001114183,NM_000827,NR_047578,NM_001258019,NM_001258020,NM_001258023,NM_001258022,NM_001258021 GRIA1,GRIA1,GRIA1,GRIA1,GRIA1,GRIA1,GRIA1,GRIA1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm2270147 5 152877008 [T/C] NM_001114183,NM_000827,NR_047578,NM_001258019,NM_001258020,NM_001258023,NM_001258022,NM_001258021 GRIA1,GRIA1,GRIA1,GRIA1,GRIA1,GRIA1,GRIA1,GRIA1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm2270259 5 152972201 [T/C] NM_001114183,NM_000827,NR_047578,NM_001258019,NM_001258020,NM_001258023,NM_001258022,NM_001258021 GRIA1,GRIA1,GRIA1,GRIA1,GRIA1,GRIA1,GRIA1,GRIA1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm-rs12658202 5 152979554 [A/C] NM_001114183,NM_000827,NR_047578,NM_001258019,NM_001258020,NM_001258023,NM_001258022,NM_001258021 GRIA1,GRIA1,GRIA1,GRIA1,GRIA1,GRIA1,GRIA1,GRIA1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm497858 5 153026538 [T/C] NM_001114183,NM_000827,NR_047578,NM_001258019,NM_001258020,NM_001258023,NM_001258022,NM_001258021 GRIA1,GRIA1,GRIA1,GRIA1,GRIA1,GRIA1,GRIA1,GRIA1 EXON Missense_R91C,Missense_R91C,Silent,Silent,Silent,Missense_R22C,Missense_R101C,Missense_R101C exm497872 5 153030051 [T/C] NM_001114183,NM_000827,NR_047578,NM_001258019,NM_001258020,NM_001258023,NM_001258022,NM_001258021 GRIA1,GRIA1,GRIA1,GRIA1,GRIA1,GRIA1,GRIA1,GRIA1 EXON Missense_R208C,Missense_R208C,Silent,Missense_R128C,Missense_R113C,Missense_R139C,Missense_R218C,Missense_R218C exm497873 5 153030052 [C/G] NM_001114183,NM_000827,NR_047578,NM_001258019,NM_001258020,NM_001258023,NM_001258022,NM_001258021 GRIA1,GRIA1,GRIA1,GRIA1,GRIA1,GRIA1,GRIA1,GRIA1 EXON Missense_R208P,Missense_R208P,Silent,Missense_R128P,Missense_R113P,Missense_R139P,Missense_R218P,Missense_R218P exm497885 5 153054148 [T/C] NM_001114183,NM_000827,NR_047578,NM_001258019,NM_001258020,NM_001258023,NM_001258022,NM_001258021 GRIA1,GRIA1,GRIA1,GRIA1,GRIA1,GRIA1,GRIA1,GRIA1 EXON Missense_P263L,Missense_P263L,Silent,Missense_P183L,Missense_P168L,Missense_P194L,Missense_P273L,Missense_P273L exm-rs12189362 5 153057548 [T/C] NM_001114183,NM_000827,NR_047578,NM_001258019,NM_001258020,NM_001258023,NM_001258022,NM_001258021 GRIA1,GRIA1,GRIA1,GRIA1,GRIA1,GRIA1,GRIA1,GRIA1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm497958 5 153190754 [C/G] NM_001114183,NM_000827,NR_047578,NM_001258019,NM_001258020,NM_001258023,NM_001258022,NM_001258021 GRIA1,GRIA1,GRIA1,GRIA1,GRIA1,GRIA1,GRIA1,GRIA1 EXON Nonsense_S897X,Nonsense_S897X,Silent,Nonsense_S817X,Nonsense_S802X,Nonsense_S828X,Nonsense_S907X,Nonsense_S907X exm-rs1461237 5 153238323 [T/C] exm-rs390299 5 153363334 [A/G] exm497962 5 153372564 [T/C] NM_018691 FAM114A2 EXON Missense_Q497R exm497963 5 153372570 [T/G] NM_018691 FAM114A2 EXON Missense_E495A exm497975 5 153377364 [T/C] NM_018691 FAM114A2 EXON Missense_G443E exm497977 5 153377382 [A/G] NM_018691 FAM114A2 EXON Missense_T437I exm497978 5 153377395 [T/C] NM_018691 FAM114A2 EXON Missense_K433E exm497984 5 153381848 [T/C] NM_018691 FAM114A2 EXON Missense_E407K exm498016 5 153406864 [T/C] NM_018691 FAM114A2 EXON Missense_I221V exm498018 5 153406881 [A/G] NM_018691 FAM114A2 EXON Missense_A215V exm2093023 5 153406887 [T/C] NM_018691 FAM114A2 EXON Missense_R213Q exm498029 5 153409099 [T/C] NM_018691 FAM114A2 EXON Missense_A149T exm498032 5 153413390 [T/C] NM_018691 FAM114A2 EXON Missense_G122S exm498037 5 153413858 [A/G] NM_018691 FAM114A2 EXON Missense_S97L exm498043 5 153414321 [T/C] NM_018691 FAM114A2 EXON Missense_K65E exm2093036 5 153429296 [A/G] NM_001242336,NM_001135037,NM_005927 MFAP3,MFAP3,MFAP3 EXON Missense_C5Y,Silent,Missense_C5Y exm498059 5 153429452 [A/G] NM_001242336,NM_001135037,NM_005927 MFAP3,MFAP3,MFAP3 EXON Missense_D57G,Silent,Missense_D57G exm498063 5 153429487 [A/G] NM_001242336,NM_001135037,NM_005927 MFAP3,MFAP3,MFAP3 EXON Missense_V69I,Silent,Missense_V69I exm498074 5 153432606 [T/C] NM_001242336,NM_001135037,NM_005927 MFAP3,MFAP3,MFAP3 EXON Missense_I141T,Silent,Missense_I141T exm498077 5 153432629 [A/G] NM_001242336,NM_001135037,NM_005927 MFAP3,MFAP3,MFAP3 EXON Missense_V149I,Missense_V3I,Missense_V149I exm498088 5 153432986 [A/G] NM_001242336,NM_001135037,NM_005927 MFAP3,MFAP3,MFAP3 EXON Missense_G268S,Missense_G122S,Missense_G268S exm2093045 5 153433115 [A/G] NM_001242336,NM_001135037,NM_005927 MFAP3,MFAP3,MFAP3 EXON Missense_E311K,Missense_E165K,Missense_E311K exm-rs1366220 5 153497780 [A/G] exm-rs2033195 5 153509596 [T/C] exm498103 5 153674472 [T/C] NM_198321 GALNT10 EXON Missense_R86C exm498109 5 153677587 [A/G] NM_198321 GALNT10 EXON Missense_V117I exm498113 5 153709145 [T/C] NM_198321 GALNT10 EXON Missense_R139C exm498114 5 153709146 [A/G] NM_198321 GALNT10 EXON Missense_R139H exm498118 5 153709239 [A/G] NM_198321 GALNT10 EXON Missense_N170S exm2257051 5 153709246 [A/G] NM_198321 GALNT10 EXON Synonymous_S172S exm498125 5 153709296 [A/G] NM_198321 GALNT10 EXON Missense_R189Q exm498138 5 153755996 [A/G] NM_198321 GALNT10 EXON Missense_N243S exm498148 5 153765901 [A/G] NM_198321 GALNT10 EXON Missense_A323T exm498154 5 153765985 [T/C] NM_198321 GALNT10 EXON Missense_F351L exm498160 5 153783664 [T/G] NM_198321,NR_037897 GALNT10,FLJ38109 EXON Missense_V353L,Silent exm498170 5 153789161 [T/C] NM_198321,NR_037897 GALNT10,FLJ38109 EXON Missense_R409W,Silent exm2093074 5 153789234 [A/G] NM_198321,NR_037897 GALNT10,FLJ38109 EXON Missense_K433R,Silent exm498173 5 153789255 [T/C] NM_198321,NR_037897 GALNT10,FLJ38109 EXON Missense_T440M,Silent exm498175 5 153789293 [A/G] NM_198321,NR_037897 GALNT10,FLJ38109 EXON Missense_V453M,Silent exm498179 5 153792453 [A/G] NM_198321,NR_037897 GALNT10,FLJ38109 EXON Missense_R464Q,Silent exm498194 5 153795488 [A/G] NM_198321,NR_037897 GALNT10,FLJ38109 EXON Missense_R550H,Silent exm498196 5 153796456 [A/G] NM_198321,NR_037897 GALNT10,FLJ38109 EXON Missense_N579S,Silent exm498212 5 153835535 [A/G] NR_024084,NM_024632,NM_001131063,NM_001131062 SAP30L,SAP30L,SAP30L,SAP30L EXON Silent,Missense_S167G,Missense_S121G,Missense_S126G exm498219 5 153855448 [A/G] NM_004821 HAND1 EXON Missense_P189L exm498224 5 153857051 [A/C] NM_004821 HAND1 EXON Missense_R173L exm498235 5 153857396 [T/G] NM_004821 HAND1 EXON Missense_A58E exm2257052 5 153857407 [T/C] NM_004821 HAND1 EXON Synonymous_P54P exm2270149 5 153867221 [T/C] exm-rs13165478 5 153869040 [A/G] exm2266131 5 153970243 [A/G] exm498257 5 154092616 [T/C] NM_015315 LARP1 EXON Missense_A44V exm498259 5 154092634 [G/C] NM_015315 LARP1 EXON Missense_T50R exm498260 5 154092643 [T/G] NM_015315 LARP1 EXON Missense_R53M exm498278 5 154169933 [A/G] NM_015315 LARP1 EXON Missense_R85H exm498280 5 154170230 [A/G] NM_015315 LARP1 EXON Missense_N98S exm498282 5 154172198 [T/C] NM_015315 LARP1 EXON Missense_P117L exm498309 5 154173713 [T/C] NM_015315 LARP1 EXON Missense_R298C exm498310 5 154173717 [T/C] NM_015315 LARP1 EXON Missense_T299M exm498359 5 154188115 [A/G] NM_015315 LARP1 EXON Missense_Y855C exm498366 5 154193580 [T/C] NM_015315 LARP1 EXON Missense_P995L exm498381 5 154199884 [T/C] NM_032385 C5orf4 EXON Missense_M332V exm498384 5 154200025 [C/G] NM_032385 C5orf4 EXON Missense_Q285E exm498392 5 154200836 [T/C] NM_032385 C5orf4 EXON Missense_D277N exm498393 5 154200906 [A/C] NM_032385 C5orf4 EXON Missense_L253F exm498397 5 154202036 [A/T] NM_032385 C5orf4 EXON Missense_H225L exm498398 5 154202049 [A/G] NM_032385 C5orf4 EXON Missense_H221Y exm498403 5 154202947 [T/C] NM_032385 C5orf4 EXON Missense_R191Q exm498410 5 154203032 [A/G] NM_032385 C5orf4 EXON Missense_R163C exm498414 5 154203080 [T/C] NM_032385 C5orf4 EXON Missense_V147M exm498415 5 154203082 [A/G] NM_032385 C5orf4 EXON Missense_M146T exm498418 5 154203121 [T/C] NM_032385 C5orf4 EXON Missense_R133H exm498423 5 154214192 [C/G] NM_032385 C5orf4 EXON Missense_F79L exm498425 5 154214237 [A/C] NM_032385 C5orf4 EXON Missense_W64C exm498428 5 154214473 [T/C] NM_032385 C5orf4 EXON Missense_M24V exm498449 5 154254886 [T/C] NM_004779 CNOT8 EXON Missense_C256R exm498455 5 154267901 [T/C] NM_001252156,NM_015465 GEMIN5,GEMIN5 EXON Missense_V1465I,Missense_V1466I exm498458 5 154268891 [T/C] NM_001252156,NM_015465 GEMIN5,GEMIN5 EXON Missense_E1449G,Missense_E1450G exm498462 5 154268952 [A/C] NM_001252156,NM_015465 GEMIN5,GEMIN5 EXON Missense_S1429A,Missense_S1430A exm498473 5 154271015 [T/C] NM_001252156,NM_015465 GEMIN5,GEMIN5 EXON Missense_E1349K,Missense_E1350K exm498485 5 154271297 [T/C] NM_001252156,NM_015465 GEMIN5,GEMIN5 EXON Missense_D1255N,Missense_D1256N exm498486 5 154271948 [A/G] NM_001252156,NM_015465 GEMIN5,GEMIN5 EXON Synonymous_D1252D,Synonymous_D1253D exm498496 5 154275786 [A/G] NM_001252156,NM_015465 GEMIN5,GEMIN5 EXON Missense_P1154S,Missense_P1155S exm498498 5 154275791 [T/G] NM_001252156,NM_015465 GEMIN5,GEMIN5 EXON Missense_E1152A,Missense_E1153A exm498501 5 154275840 [A/G] NM_001252156,NM_015465 GEMIN5,GEMIN5 EXON Missense_S1136P,Missense_S1137P exm498503 5 154275863 [T/C] NM_001252156,NM_015465 GEMIN5,GEMIN5 EXON Missense_R1128K,Missense_R1129K exm498504 5 154278005 [C/G] NM_001252156,NM_015465 GEMIN5,GEMIN5 EXON Missense_L1113V,Missense_L1114V exm498511 5 154278113 [T/C] NM_001252156,NM_015465 GEMIN5,GEMIN5 EXON Missense_V1077I,Missense_V1078I exm2093214 5 154278131 [T/C] NM_001252156,NM_015465 GEMIN5,GEMIN5 EXON Missense_A1071T,Missense_A1072T exm498517 5 154278151 [A/G] NM_001252156,NM_015465 GEMIN5,GEMIN5 EXON Missense_A1064V,Missense_A1065V exm2093222 5 154282102 [T/C] NM_001252156,NM_015465 GEMIN5,GEMIN5 EXON Missense_A954T,Missense_A955T exm498537 5 154282235 [T/C] NM_001252156,NM_015465 GEMIN5,GEMIN5 EXON Synonymous_G909G,Synonymous_G910G exm498544 5 154282692 [T/A] NM_001252156,NM_015465 GEMIN5,GEMIN5 EXON Missense_H891Q,Missense_H892Q exm2093229 5 154282717 [A/G] NM_001252156,NM_015465 GEMIN5,GEMIN5 EXON Missense_S883F,Missense_S884F exm498546 5 154284123 [T/G] NM_001252156,NM_015465 GEMIN5,GEMIN5 EXON Missense_S858Y,Missense_S859Y exm498550 5 154284928 [T/C] NM_001252156,NM_015465 GEMIN5,GEMIN5 EXON Missense_K834R,Missense_K835R exm498551 5 154284938 [A/G] NM_001252156,NM_015465 GEMIN5,GEMIN5 EXON Missense_P831S,Missense_P832S exm2242096 5 154285003 [G/C] NM_001252156,NM_015465 GEMIN5,GEMIN5 EXON Missense_S809C,Missense_S810C exm498557 5 154287152 [T/C] NM_001252156,NM_015465 GEMIN5,GEMIN5 EXON Synonymous_A797A,Synonymous_A798A exm498563 5 154287276 [A/G] NM_001252156,NM_015465 GEMIN5,GEMIN5 EXON Missense_S756L,Missense_S757L exm498565 5 154287346 [A/G] NM_001252156,NM_015465 GEMIN5,GEMIN5 EXON Missense_L733F,Missense_L734F exm498566 5 154287348 [T/C] NM_001252156,NM_015465 GEMIN5,GEMIN5 EXON Missense_R732Q,Missense_R733Q exm498571 5 154291299 [A/G] NM_001252156,NM_015465 GEMIN5,GEMIN5 EXON Missense_R718W,Missense_R719W exm498575 5 154291409 [T/C] NM_001252156,NM_015465 GEMIN5,GEMIN5 EXON Missense_R681Q,Missense_R682Q exm498591 5 154296602 [A/G] NM_001252156,NM_015465 GEMIN5,GEMIN5 EXON Missense_S603F,Missense_S604F exm498592 5 154296611 [A/G] NM_001252156,NM_015465 GEMIN5,GEMIN5 EXON Missense_A600V,Missense_A601V exm498593 5 154296632 [C/G] NM_001252156,NM_015465 GEMIN5,GEMIN5 EXON Missense_P593R,Missense_P594R exm2093245 5 154296649 [T/A] NM_001252156,NM_015465 GEMIN5,GEMIN5 EXON Missense_H587Q,Missense_H588Q exm498595 5 154297537 [T/C] NM_001252156,NM_015465 GEMIN5,GEMIN5 EXON Missense_S542G,Missense_S543G exm498602 5 154299599 [G/C] NM_001252156,NM_015465 GEMIN5,GEMIN5 EXON Missense_Q508H,Missense_Q509H exm498611 5 154300977 [T/G] NM_001252156,NM_015465 GEMIN5,GEMIN5 EXON Missense_Q462P,Missense_Q463P exm498616 5 154305423 [A/G] NM_001252156,NM_015465 GEMIN5,GEMIN5 EXON Missense_A430V,Missense_A431V exm498632 5 154307070 [G/C] NM_001252156,NM_015465 GEMIN5,GEMIN5 EXON Missense_R318G,Missense_R319G exm498636 5 154308212 [A/C] NM_001252156,NM_015465 GEMIN5,GEMIN5 EXON Missense_M262I,Missense_M263I exm498638 5 154311021 [A/G] NM_001252156,NM_015465 GEMIN5,GEMIN5 EXON Nonsense_R259X,Nonsense_R260X exm2093263 5 154311665 [T/C] NM_001252156,NM_015465 GEMIN5,GEMIN5 EXON Missense_T219A,Missense_T219A exm498659 5 154316671 [A/G] NM_001252156,NM_015465 GEMIN5,GEMIN5 EXON Missense_L81F,Missense_L81F exm498671 5 154320697 [A/G] NM_001014990,NM_014180 MRPL22,MRPL22 EXON Silent,Synonymous_L9L exm498681 5 154330431 [A/G] NM_001014990,NM_014180 MRPL22,MRPL22 EXON Silent,Missense_R43Q exm498687 5 154335947 [A/G] NM_001014990,NM_014180 MRPL22,MRPL22 EXON Silent,Missense_R71Q exm498691 5 154336695 [A/G] NM_001014990,NM_014180 MRPL22,MRPL22 EXON Missense_I8V,Missense_I88V exm498692 5 154336741 [A/G] NM_001014990,NM_014180 MRPL22,MRPL22 EXON Missense_N23S,Missense_N103S exm2275373 5 154346263 [C/G] NM_001014990,NM_014180 MRPL22,MRPL22 EXON Missense_R63G,Missense_R143G exm498705 5 154346281 [T/C] NM_001014990,NM_014180 MRPL22,MRPL22 EXON Missense_R69C,Missense_R149C exm498706 5 154346296 [A/G] NM_001014990,NM_014180 MRPL22,MRPL22 EXON Missense_G74S,Missense_G154S exm498708 5 154346305 [T/C] NM_001014990,NM_014180 MRPL22,MRPL22 EXON Missense_R77C,Missense_R157C exm498711 5 154346390 [T/C] NM_001014990,NM_014180 MRPL22,MRPL22 EXON Missense_T105M,Missense_T185M exm498715 5 154346428 [T/C] NM_001014990,NM_014180 MRPL22,MRPL22 EXON Missense_R118C,Missense_R198C exm498718 5 154346437 [A/G] NM_001014990,NM_014180 MRPL22,MRPL22 EXON Missense_T121A,Missense_T201A exm2266028 5 154376097 [A/G] exm498749 5 154394302 [T/C] NM_001099293 KIF4B EXON Nonsense_R295X exm498751 5 154394347 [A/G] NM_001099293 KIF4B EXON Missense_I310V exm2257055 5 154394577 [A/G] NM_001099293 KIF4B EXON Synonymous_Q386Q exm498763 5 154394728 [T/C] NM_001099293 KIF4B EXON Missense_L437F exm498767 5 154394812 [T/A] NM_001099293 KIF4B EXON Missense_I465L exm498770 5 154394899 [G/C] NM_001099293 KIF4B EXON Missense_E494Q exm498772 5 154394947 [T/G] NM_001099293 KIF4B EXON Missense_A510S exm498773 5 154394953 [A/G] NM_001099293 KIF4B EXON Missense_T512A exm498774 5 154394978 [T/C] NM_001099293 KIF4B EXON Missense_A520V exm498780 5 154395158 [T/G] NM_001099293 KIF4B EXON Missense_R580L exm498782 5 154395199 [A/C] NM_001099293 KIF4B EXON Missense_L594M exm2275337 5 154395451 [T/C] NM_001099293 KIF4B EXON Nonsense_R678X exm498787 5 154395458 [A/G] NM_001099293 KIF4B EXON Missense_R680H exm498788 5 154395470 [A/G] NM_001099293 KIF4B EXON Missense_Y684C exm498791 5 154395556 [T/C] NM_001099293 KIF4B EXON Nonsense_R713X exm498796 5 154395682 [A/G] NM_001099293 KIF4B EXON Missense_V755I exm2093312 5 154395689 [T/C] NM_001099293 KIF4B EXON Missense_T757I exm498803 5 154395865 [A/C] NM_001099293 KIF4B EXON Missense_I816L exm498806 5 154395970 [A/G] NM_001099293 KIF4B EXON Missense_K851E exm498812 5 154396295 [T/C] NM_001099293 KIF4B EXON Missense_L959P exm498820 5 154396505 [A/G] NM_001099293 KIF4B EXON Missense_R1029H exm498827 5 154396783 [T/C] NM_001099293 KIF4B EXON Missense_R1122C exm2093324 5 154396838 [C/G] NM_001099293 KIF4B EXON Missense_G1140A exm2270150 5 154750384 [T/C] exm-rs12516532 5 154916462 [A/G] exm2270151 5 155253756 [T/G] exm-rs4704970 5 155500992 [A/G] exm498851 5 155771587 [A/G] NM_001128209,NM_172244,NM_000337 SGCD,SGCD,SGCD EXON Missense_R30Q,Missense_R31Q,Missense_R31Q exm2266134 5 155875529 [A/G] NM_001128209,NM_172244,NM_000337 SGCD,SGCD,SGCD Silent,Silent,Silent exm2257061 5 155935631 [A/G] NM_001128209,NM_172244,NM_000337 SGCD,SGCD,SGCD EXON Synonymous_R70R,Synonymous_R71R,Synonymous_R71R exm498858 5 155935708 [A/G] NM_001128209,NM_172244,NM_000337 SGCD,SGCD,SGCD EXON Missense_R96Q,Missense_R97Q,Missense_R97Q exm498864 5 156022010 [T/G] NM_001128209,NM_172244,NM_000337 SGCD,SGCD,SGCD EXON Missense_S150A,Missense_S151A,Missense_S151A exm-rs157350 5 156139569 [A/G] NM_001128209,NM_172244,NM_000337 SGCD,SGCD,SGCD Silent,Silent,Silent exm2093360 5 156184733 [G/C] NM_001128209,NM_172244,NM_000337 SGCD,SGCD,SGCD EXON Silent,Missense_D239E,Silent exm498877 5 156186283 [T/C] NM_001128209,NM_000337 SGCD,SGCD EXON Missense_T251M,Missense_T252M exm498886 5 156346485 [T/C] NM_001146726,NM_138379 TIMD4,TIMD4 EXON Missense_G346S,Missense_G374S exm498889 5 156346512 [T/C] NM_001146726,NM_138379 TIMD4,TIMD4 EXON Missense_V337M,Missense_V365M exm498896 5 156347505 [A/G] NM_001146726,NM_138379 TIMD4,TIMD4 EXON Missense_M313T,Missense_M341T exm498898 5 156349171 [A/C] NM_001146726,NM_138379 TIMD4,TIMD4 EXON Missense_M289I,Missense_M317I exm498904 5 156349228 [A/C] NM_001146726,NM_138379 TIMD4,TIMD4 Silent,Silent exm2257063 5 156375458 [T/C] NM_001146726,NM_138379 TIMD4,TIMD4 EXON Silent,Synonymous_T271T exm498917 5 156376703 [A/G] NM_001146726,NM_138379 TIMD4,TIMD4 EXON Missense_V240A,Missense_V240A exm498922 5 156378550 [A/G] NM_001146726,NM_138379 TIMD4,TIMD4 EXON Missense_S218P,Missense_S218P exm498923 5 156378556 [T/C] NM_001146726,NM_138379 TIMD4,TIMD4 EXON Missense_E216K,Missense_E216K exm498931 5 156378664 [T/C] NM_001146726,NM_138379 TIMD4,TIMD4 EXON Missense_G180R,Missense_G180R exm498932 5 156378666 [A/G] NM_001146726,NM_138379 TIMD4,TIMD4 EXON Missense_T179I,Missense_T179I exm498933 5 156378676 [T/C] NM_001146726,NM_138379 TIMD4,TIMD4 EXON Missense_D176N,Missense_D176N exm498935 5 156378688 [T/C] NM_001146726,NM_138379 TIMD4,TIMD4 EXON Missense_V172M,Missense_V172M exm498937 5 156378693 [T/G] NM_001146726,NM_138379 TIMD4,TIMD4 EXON Missense_T170K,Missense_T170K exm498939 5 156378729 [T/C] NM_001146726,NM_138379 TIMD4,TIMD4 EXON Missense_R158Q,Missense_R158Q exm2275374 5 156378730 [A/G] NM_001146726,NM_138379 TIMD4,TIMD4 EXON Nonsense_R158X,Nonsense_R158X exm498942 5 156378763 [A/G] NM_001146726,NM_138379 TIMD4,TIMD4 EXON Missense_R147C,Missense_R147C exm498952 5 156381554 [A/G] NM_001146726,NM_138379 TIMD4,TIMD4 EXON Missense_P91L,Missense_P91L exm2277293 5 156381618 [T/G] NM_001146726,NM_138379 TIMD4,TIMD4 EXON Missense_R70S,Missense_R70S exm498958 5 156381649 [T/G] NM_001146726,NM_138379 TIMD4,TIMD4 EXON Nonsense_C59X,Nonsense_C59X exm498960 5 156381695 [T/G] NM_001146726,NM_138379 TIMD4,TIMD4 EXON Missense_S44Y,Missense_S44Y exm-rs6882076 5 156390297 [T/C] exm-rs1501908 5 156398169 [C/G] exm498995 5 156476111 [A/G] NM_001173393,NM_001099414,NM_012206 HAVCR1,HAVCR1,HAVCR1 EXON Missense_T240M,Missense_T240M,Missense_T240M exm2270152 5 156479204 [T/C] NM_001173393,NM_001099414,NM_012206 HAVCR1,HAVCR1,HAVCR1 Silent,Silent,Silent exm2093394 5 156479402 [T/C] NM_001173393,NM_001099414,NM_012206 HAVCR1,HAVCR1,HAVCR1 EXON Missense_M215V,Missense_M215V,Missense_M215V exm499002 5 156479426 [T/C] NM_001173393,NM_001099414,NM_012206 HAVCR1,HAVCR1,HAVCR1 EXON Missense_T207A,Missense_T207A,Missense_T207A exm499005 5 156479446 [G/C] NM_001173393,NM_001099414,NM_012206 HAVCR1,HAVCR1,HAVCR1 EXON Missense_T200R,Missense_T200R,Missense_T200R exm499006 5 156479464 [A/G] NM_001173393,NM_001099414,NM_012206 HAVCR1,HAVCR1,HAVCR1 EXON Missense_T194M,Missense_T194M,Missense_T194M exm499009 5 156479482 [A/G] NM_001173393,NM_001099414,NM_012206 HAVCR1,HAVCR1,HAVCR1 EXON Missense_T188M,Missense_T188M,Missense_T188M exm499010 5 156479488 [A/G] NM_001173393,NM_001099414,NM_012206 HAVCR1,HAVCR1,HAVCR1 EXON Missense_T186M,Missense_T186M,Missense_T186M exm499012 5 156479492 [A/G] NM_001173393,NM_001099414,NM_012206 HAVCR1,HAVCR1,HAVCR1 EXON Missense_S185P,Missense_S185P,Missense_S185P exm499014 5 156479509 [A/G] NM_001173393,NM_001099414,NM_012206 HAVCR1,HAVCR1,HAVCR1 EXON Missense_L179P,Missense_L179P,Missense_L179P exm2093398 5 156479524 [A/G] NM_001173393,NM_001099414,NM_012206 HAVCR1,HAVCR1,HAVCR1 EXON Missense_T174M,Missense_T174M,Missense_T174M exm2093399 5 156479540 [T/C] NM_001173393,NM_001099414,NM_012206 HAVCR1,HAVCR1,HAVCR1 EXON Missense_T169A,Missense_T169A,Missense_T169A exm2242110 5 156479561 [A/G] NM_001173393,NM_001099414,NM_012206 HAVCR1,HAVCR1,HAVCR1 EXON Missense_P162S,Missense_P162S,Missense_P162S exm499028 5 156479572 [A/G] NM_001173393,NM_001099414,NM_012206 HAVCR1,HAVCR1,HAVCR1 EXON Missense_M158T,Missense_M158T,Missense_M158T exm499029 5 156479579 [T/C] NM_001173393,NM_001099414,NM_012206 HAVCR1,HAVCR1,HAVCR1 EXON Missense_V156I,Missense_V156I,Missense_V156I exm499032 5 156479584 [A/G] NM_001173393,NM_001099414,NM_012206 HAVCR1,HAVCR1,HAVCR1 EXON Missense_T154M,Missense_T154M,Missense_T154M exm2242111 5 156479593 [C/G] NM_001173393,NM_001099414,NM_012206 HAVCR1,HAVCR1,HAVCR1 EXON Missense_P151R,Missense_P151R,Missense_P151R exm499036 5 156479600 [T/C] NM_001173393,NM_001099414,NM_012206 HAVCR1,HAVCR1,HAVCR1 EXON Missense_T149A,Missense_T149A,Missense_T149A exm499037 5 156479620 [G/C] NM_001173393,NM_001099414,NM_012206 HAVCR1,HAVCR1,HAVCR1 EXON Missense_T142R,Missense_T142R,Missense_T142R exm499042 5 156482296 [G/C] NM_001173393,NM_001099414,NM_012206 HAVCR1,HAVCR1,HAVCR1 EXON Missense_D99H,Missense_D99H,Missense_D99H exm2257064 5 156482446 [T/G] NM_001173393,NM_001099414,NM_012206 HAVCR1,HAVCR1,HAVCR1 EXON Synonymous_R49R,Synonymous_R49R,Synonymous_R49R exm499052 5 156482446 [T/G] NM_001173393,NM_001099414,NM_012206 HAVCR1,HAVCR1,HAVCR1 EXON Synonymous_R49R,Synonymous_R49R,Synonymous_R49R exm499054 5 156482458 [T/C] NM_001173393,NM_001099414,NM_012206 HAVCR1,HAVCR1,HAVCR1 EXON Missense_M45V,Missense_M45V,Missense_M45V exm499069 5 156514129 [T/C] NM_032782 HAVCR2 EXON Missense_R297H exm499071 5 156514189 [A/G] NM_032782 HAVCR2 EXON Missense_P277L exm499076 5 156514243 [T/C] NM_032782 HAVCR2 EXON Missense_R259H exm499080 5 156522370 [C/G] NM_032782 HAVCR2 EXON Missense_G208A exm499083 5 156522413 [A/C] NM_032782 HAVCR2 EXON Missense_D194Y exm499086 5 156522469 [T/C] NM_032782 HAVCR2 EXON Missense_Q175R exm499088 5 156525879 [A/G] NM_032782 HAVCR2 EXON Missense_I171T exm499089 5 156525882 [A/T] NM_032782 HAVCR2 EXON Missense_D170V exm499093 5 156531694 [G/C] NM_032782 HAVCR2 EXON Missense_T154S exm499095 5 156531736 [A/C] NM_032782 HAVCR2 EXON Missense_R140L exm2093426 5 156533713 [A/T] NM_032782 HAVCR2 EXON Missense_I107F exm499101 5 156533730 [A/G] NM_032782 HAVCR2 EXON Missense_T101I exm499102 5 156533741 [T/C] NM_032782 HAVCR2 EXON Missense_I97M exm499103 5 156533787 [T/C] NM_032782 HAVCR2 EXON Missense_Y82C exm499116 5 156565812 [T/C] NM_004270,NM_001100816 MED7,MED7 EXON Missense_R211G,Missense_R211G exm499118 5 156565835 [T/C] NM_004270,NM_001100816 MED7,MED7 EXON Missense_H203R,Missense_H203R exm499119 5 156565839 [T/C] NM_004270,NM_001100816 MED7,MED7 EXON Missense_E202K,Missense_E202K exm499122 5 156565880 [A/G] NM_004270,NM_001100816 MED7,MED7 EXON Missense_P188L,Missense_P188L exm499137 5 156589466 [A/G] NM_130899 FAM71B EXON Missense_S604P exm499138 5 156589481 [T/C] NM_130899 FAM71B EXON Missense_V599I exm499143 5 156589585 [A/G] NM_130899 FAM71B EXON Missense_M564T exm499145 5 156589660 [T/C] NM_130899 FAM71B EXON Missense_R539K exm499146 5 156589696 [A/G] NM_130899 FAM71B EXON Missense_L527S exm499152 5 156589838 [T/G] NM_130899 FAM71B EXON Missense_K480Q exm499160 5 156589874 [A/G] NM_130899 FAM71B EXON Missense_R468W exm499161 5 156589901 [T/C] NM_130899 FAM71B EXON Missense_D459N exm2093440 5 156589915 [T/C] NM_130899 FAM71B EXON Missense_R454H exm499165 5 156589937 [A/G] NM_130899 FAM71B EXON Missense_R447C exm499167 5 156590006 [T/C] NM_130899 FAM71B EXON Missense_V424I exm499176 5 156590155 [A/G] NM_130899 FAM71B EXON Missense_A374V exm499178 5 156590188 [A/G] NM_130899 FAM71B EXON Missense_A363V exm499183 5 156590236 [T/C] NM_130899 FAM71B EXON Missense_G347D exm499185 5 156590267 [T/A] NM_130899 FAM71B EXON Missense_S337T exm499188 5 156590335 [A/G] NM_130899 FAM71B EXON Missense_A314V exm499192 5 156590389 [A/G] NM_130899 FAM71B EXON Missense_M296T exm499206 5 156592603 [T/C] NM_130899 FAM71B EXON Missense_A193T exm499207 5 156592620 [A/G] NM_130899 FAM71B EXON Missense_T187I exm499208 5 156592621 [T/G] NM_130899 FAM71B EXON Missense_T187P exm2093448 5 156592647 [A/G] NM_130899 FAM71B EXON Missense_P178L exm499214 5 156592768 [G/C] NM_130899 FAM71B EXON Missense_Q138E exm499221 5 156593010 [T/C] NM_130899 FAM71B EXON Missense_K57R exm499224 5 156593079 [T/C] NM_130899 FAM71B EXON Missense_N34S exm2093455 5 156593121 [A/G] NM_130899 FAM71B EXON Missense_A20V exm-rs411174 5 156609000 [A/G] NM_005546 ITK Silent exm2242117 5 156641232 [A/G] NM_005546 ITK EXON Missense_K119R exm499260 5 156649955 [A/G] NM_005546 ITK EXON Missense_R193Q exm499261 5 156649957 [T/C] NM_005546 ITK EXON Missense_R194C exm499263 5 156650008 [C/G] NM_005546 ITK EXON Missense_V211L exm499269 5 156659403 [T/C] NM_005546 ITK EXON Missense_T256I exm499275 5 156665194 [A/G] NM_005546 ITK EXON Missense_V282I exm499294 5 156670791 [T/G] NM_005546 ITK EXON Missense_A407S exm499300 5 156671321 [A/C] NM_005546 ITK EXON Missense_Q428K exm2275834 5 156671382 [A/G] NM_005546 ITK EXON Missense_R448H exm499303 5 156671390 [T/C] NM_005546 ITK EXON Missense_R451W exm2257065 5 156671437 [T/G] NM_005546 ITK EXON Synonymous_V466V exm499322 5 156675967 [T/C] NM_005546 ITK EXON Missense_R581W exm499323 5 156675985 [A/G] NM_005546 ITK EXON Missense_V587I exm499357 5 156738677 [T/C] NM_001037333,NM_001037332,NM_014376 CYFIP2,CYFIP2,CYFIP2 EXON Missense_T333M,Missense_T333M,Missense_T333M exm499388 5 156760416 [A/G] NM_001037333,NM_001037332,NM_014376 CYFIP2,CYFIP2,CYFIP2 EXON Missense_I783V,Missense_I783V,Missense_I783V exm-rs10037858 5 156766708 [A/G] NM_001037333,NM_001037332,NM_014376 CYFIP2,CYFIP2,CYFIP2 Silent,Silent,Silent exm499406 5 156769886 [A/G] NM_001037333,NM_001037332,NM_014376,NM_001001343 CYFIP2,CYFIP2,CYFIP2,FNDC9 EXON Silent,Silent,Silent,Missense_P220L exm499410 5 156769914 [A/C] NM_001037333,NM_001037332,NM_014376,NM_001001343 CYFIP2,CYFIP2,CYFIP2,FNDC9 EXON Silent,Silent,Silent,Missense_G211W exm499418 5 156770048 [A/G] NM_001037333,NM_001037332,NM_014376,NM_001001343 CYFIP2,CYFIP2,CYFIP2,FNDC9 EXON Silent,Silent,Silent,Missense_P166L exm499419 5 156770049 [C/G] NM_001037333,NM_001037332,NM_014376,NM_001001343 CYFIP2,CYFIP2,CYFIP2,FNDC9 EXON Silent,Silent,Silent,Missense_P166A exm499425 5 156770117 [A/G] NM_001037333,NM_001037332,NM_014376,NM_001001343 CYFIP2,CYFIP2,CYFIP2,FNDC9 EXON Silent,Silent,Silent,Missense_P143L exm499426 5 156770133 [T/C] NM_001037333,NM_001037332,NM_014376,NM_001001343 CYFIP2,CYFIP2,CYFIP2,FNDC9 EXON Silent,Silent,Silent,Missense_V138I exm499427 5 156770153 [A/G] NM_001037333,NM_001037332,NM_014376,NM_001001343 CYFIP2,CYFIP2,CYFIP2,FNDC9 EXON Silent,Silent,Silent,Missense_I131T exm2257067 5 156770188 [T/A] NM_001037333,NM_001037332,NM_014376,NM_001001343 CYFIP2,CYFIP2,CYFIP2,FNDC9 EXON Silent,Silent,Silent,Synonymous_I119I exm499430 5 156770220 [A/G] NM_001037333,NM_001037332,NM_014376,NM_001001343 CYFIP2,CYFIP2,CYFIP2,FNDC9 EXON Silent,Silent,Silent,Missense_P109S exm499431 5 156770249 [A/G] NM_001037333,NM_001037332,NM_014376,NM_001001343 CYFIP2,CYFIP2,CYFIP2,FNDC9 EXON Silent,Silent,Silent,Missense_P99L exm499432 5 156770252 [T/C] NM_001037333,NM_001037332,NM_014376,NM_001001343 CYFIP2,CYFIP2,CYFIP2,FNDC9 EXON Silent,Silent,Silent,Missense_S98N exm499442 5 156770351 [T/C] NM_001037333,NM_001037332,NM_014376,NM_001001343 CYFIP2,CYFIP2,CYFIP2,FNDC9 EXON Silent,Silent,Silent,Missense_H65R exm499443 5 156770375 [A/G] NM_001037333,NM_001037332,NM_014376,NM_001001343 CYFIP2,CYFIP2,CYFIP2,FNDC9 EXON Silent,Silent,Silent,Missense_T57M exm499447 5 156770414 [A/T] NM_001037333,NM_001037332,NM_014376,NM_001001343 CYFIP2,CYFIP2,CYFIP2,FNDC9 EXON Silent,Silent,Silent,Missense_L44H exm2093553 5 156770434 [T/G] NM_001037333,NM_001037332,NM_014376,NM_001001343 CYFIP2,CYFIP2,CYFIP2,FNDC9 EXON Silent,Silent,Silent,Missense_N37K exm499450 5 156770481 [A/G] NM_001037333,NM_001037332,NM_014376,NM_001001343 CYFIP2,CYFIP2,CYFIP2,FNDC9 EXON Silent,Silent,Silent,Missense_P22S exm499455 5 156786085 [A/G] NM_001037333,NM_001037332,NM_014376 CYFIP2,CYFIP2,CYFIP2 EXON Missense_I916V,Missense_I916V,Missense_I916V exm499470 5 156816315 [A/G] NM_001037333,NM_001037332,NM_014376 CYFIP2,CYFIP2,CYFIP2 EXON Missense_R1109Q,Missense_R1109Q,Missense_R1109Q exm2270153 5 156859914 [T/C] exm2274110 5 156890119 [T/G] NM_001172292,NM_001099287 NIPAL4,NIPAL4 EXON Missense_Y81D,Missense_Y81D exm499497 5 156890156 [A/G] NM_001172292,NM_001099287 NIPAL4,NIPAL4 EXON Missense_N93S,Missense_N93S exm499498 5 156890174 [T/C] NM_001172292,NM_001099287 NIPAL4,NIPAL4 EXON Missense_V99A,Missense_V99A exm499499 5 156890181 [A/C] NM_001172292,NM_001099287 NIPAL4,NIPAL4 EXON Missense_S101R,Missense_S101R exm499510 5 156890321 [A/C] NM_001172292,NM_001099287 NIPAL4,NIPAL4 EXON Missense_A148D,Missense_A148D exm499524 5 156898690 [A/G] NM_001172292,NM_001099287 NIPAL4,NIPAL4 EXON Missense_R194G,Missense_R213G exm499530 5 156898823 [T/C] NM_001172292,NM_001099287 NIPAL4,NIPAL4 EXON Missense_T238I,Missense_T257I exm499534 5 156899406 [A/G] NM_001172292,NM_001099287 NIPAL4,NIPAL4 EXON Missense_R261H,Missense_R280H exm499537 5 156899531 [T/C] NM_001172292,NM_001099287 NIPAL4,NIPAL4 EXON Missense_R303W,Missense_R322W exm2093588 5 156899672 [A/G] NM_001172292,NM_001099287 NIPAL4,NIPAL4 EXON Missense_V350I,Missense_V369I exm499552 5 156899925 [T/C] NM_001172292,NM_001099287 NIPAL4,NIPAL4 EXON Missense_S434L,Missense_S453L exm2093594 5 156908012 [T/C] NM_033274 ADAM19 Silent exm499570 5 156908932 [A/G] NM_033274 ADAM19 EXON Missense_P857L exm499571 5 156915281 [T/C] NM_033274 ADAM19 EXON Missense_V848I exm499576 5 156915311 [A/G] NM_033274 ADAM19 EXON Missense_R838W exm499577 5 156915323 [C/G] NM_033274 ADAM19 EXON Missense_P834A exm499583 5 156915410 [T/C] NM_033274 ADAM19 EXON Missense_A805T exm499584 5 156915427 [T/C] NM_033274 ADAM19 EXON Missense_R799H exm499590 5 156916192 [A/C] NM_033274 ADAM19 EXON Missense_C748F exm499593 5 156917340 [A/C] NM_033274 ADAM19 EXON Missense_S740A exm499599 5 156918638 [A/G] NM_033274 ADAM19 EXON Missense_P694S exm499602 5 156918697 [A/G] NM_033274 ADAM19 EXON Missense_P674L exm499608 5 156918850 [T/C] NM_033274 ADAM19 EXON Missense_G660D exm499627 5 156923974 [T/C] NM_033274 ADAM19 EXON Missense_G508S exm499632 5 156926587 [C/G] NM_033274 ADAM19 EXON Missense_Q464H exm499636 5 156926624 [A/G] NM_033274 ADAM19 EXON Missense_P452L exm499637 5 156929816 [T/C] NM_033274 ADAM19 EXON Missense_E435K exm-rs2277027 5 156932376 [A/C] NM_033274 ADAM19 Silent exm499655 5 156934111 [A/G] NM_033274 ADAM19 EXON Missense_P315S exm499661 5 156936364 [T/C] NM_033274 ADAM19 EXON Missense_S284G exm-rs11740562 5 156942285 [A/G] NM_033274 ADAM19 Silent exm499671 5 156945833 [G/C] NM_033274 ADAM19 EXON Missense_E222Q exm499676 5 156946851 [T/C] NM_033274 ADAM19 EXON Missense_R199H exm499677 5 156946852 [A/G] NM_033274 ADAM19 EXON Missense_R199C exm2093637 5 156946896 [G/C] NM_033274 ADAM19 EXON Missense_R184T exm499678 5 156946918 [T/C] NM_033274 ADAM19 EXON Missense_E177K exm499687 5 156957831 [T/C] NM_033274 ADAM19 EXON Missense_T131A exm499690 5 156964944 [C/G] NM_033274 ADAM19 EXON Missense_Q103E exm499699 5 157002628 [A/C] NM_033274 ADAM19 EXON Missense_R26L exm499701 5 157053365 [T/C] NM_178424,NM_007017 SOX30,SOX30 EXON Missense_V749M,Silent exm499707 5 157053521 [A/G] NM_178424,NM_007017 SOX30,SOX30 EXON Missense_Y697H,Silent exm499712 5 157053569 [A/G] NM_178424,NM_007017 SOX30,SOX30 EXON Missense_H681Y,Silent exm499713 5 157053610 [T/C] NM_178424,NM_007017 SOX30,SOX30 EXON Missense_N667S,Silent exm2093658 5 157053627 [A/G] NM_178424,NM_007017 SOX30,SOX30 EXON Synonymous_G661G,Missense_V497A exm499718 5 157065248 [A/G] NM_178424,NM_007017 SOX30,SOX30 EXON Missense_F624L,Silent exm499724 5 157065395 [A/G] NM_178424,NM_007017 SOX30,SOX30 EXON Missense_P575S,Silent exm499726 5 157065428 [G/C] NM_178424,NM_007017 SOX30,SOX30 EXON Missense_P564A,Silent exm499727 5 157065430 [T/G] NM_178424,NM_007017 SOX30,SOX30 EXON Missense_Q563P,Silent exm499728 5 157065439 [A/G] NM_178424,NM_007017 SOX30,SOX30 EXON Missense_S560L,Silent exm2257069 5 157065492 [A/G] NM_178424,NM_007017 SOX30,SOX30 EXON Synonymous_S542S,Silent exm499731 5 157065499 [A/G] NM_178424,NM_007017 SOX30,SOX30 EXON Missense_L540P,Silent exm499736 5 157065635 [T/C] NM_178424,NM_007017 SOX30,SOX30 EXON Missense_V495M,Silent exm2093668 5 157073657 [T/C] NM_178424,NM_007017 SOX30,SOX30 EXON Missense_T459A,Missense_T459A exm2093670 5 157073705 [A/G] NM_178424,NM_007017 SOX30,SOX30 EXON Missense_R443C,Missense_R443C exm499742 5 157073747 [T/G] NM_178424,NM_007017 SOX30,SOX30 EXON Missense_Q429K,Missense_Q429K exm499743 5 157073767 [T/C] NM_178424,NM_007017 SOX30,SOX30 EXON Missense_N422S,Missense_N422S exm499748 5 157075784 [T/C] NM_178424,NM_007017 SOX30,SOX30 EXON Missense_N363S,Missense_N363S exm499762 5 157078290 [G/C] NM_178424,NM_007017 SOX30,SOX30 EXON Missense_T266R,Missense_T266R exm499775 5 157078479 [T/C] NM_178424,NM_007017 SOX30,SOX30 EXON Missense_S203N,Missense_S203N exm499778 5 157078632 [A/G] NM_178424,NM_007017 SOX30,SOX30 EXON Missense_P152L,Missense_P152L exm499779 5 157078687 [A/G] NM_178424,NM_007017 SOX30,SOX30 EXON Missense_H134Y,Missense_H134Y exm499792 5 157078924 [A/G] NM_178424,NM_007017 SOX30,SOX30 EXON Missense_C55R,Missense_C55R exm499794 5 157078944 [T/C] NM_178424,NM_007017 SOX30,SOX30 EXON Missense_S48N,Missense_S48N exm2266135 5 157095798 [A/G] exm499801 5 157098725 [T/C] NM_001145132 C5orf52 EXON Missense_S35P exm499803 5 157098756 [T/G] NM_001145132 C5orf52 EXON Missense_R45L exm499807 5 157102123 [T/C] NM_001145132 C5orf52 EXON Missense_A79V exm499809 5 157102156 [T/C] NM_001145132 C5orf52 EXON Missense_S90F exm499810 5 157102159 [A/G] NM_001145132 C5orf52 EXON Missense_R91Q exm499811 5 157102179 [T/C] NM_001145132 C5orf52 EXON Missense_R98C exm499812 5 157102185 [A/G] NM_001145132 C5orf52 EXON Missense_T100A exm499834 5 157158612 [T/C] NM_017872 THG1L EXON Missense_V55A exm499839 5 157159971 [T/A] NM_017872 THG1L EXON Missense_D96V exm499846 5 157161603 [A/G] NM_017872 THG1L EXON Missense_A130T exm2274111 5 157164947 [A/G] NM_017872 THG1L EXON Missense_N227S exm499856 5 157164962 [T/C] NM_017872 THG1L EXON Missense_L232P exm499862 5 157170775 [T/G] NM_173491 LSM11 EXON Missense_R6L exm499868 5 157170966 [A/G] NM_173491 LSM11 EXON Missense_G70S exm2257070 5 157182032 [C/G] NM_173491 LSM11 EXON Synonymous_V281V exm-rs4704896 5 157194402 [T/C] exm499914 5 157214670 [A/G] NM_001195555,NM_001195556,NM_014666 CLINT1,CLINT1,CLINT1 EXON Missense_A639V,Missense_A621V,Missense_A621V exm499917 5 157214762 [G/C] NM_001195555,NM_001195556,NM_014666 CLINT1,CLINT1,CLINT1 EXON Missense_M608I,Missense_M590I,Missense_M590I exm499920 5 157214820 [A/G] NM_001195555,NM_001195556,NM_014666 CLINT1,CLINT1,CLINT1 EXON Missense_M589T,Missense_M571T,Missense_M571T exm499922 5 157214823 [A/G] NM_001195555,NM_001195556,NM_014666 CLINT1,CLINT1,CLINT1 EXON Missense_P588L,Missense_P570L,Missense_P570L exm499924 5 157214828 [T/A] NM_001195555,NM_001195556,NM_014666 CLINT1,CLINT1,CLINT1 EXON Missense_N586K,Missense_N568K,Missense_N568K exm499927 5 157214868 [T/C] NM_001195555,NM_001195556,NM_014666 CLINT1,CLINT1,CLINT1 EXON Missense_N573S,Missense_N555S,Missense_N555S exm499933 5 157218725 [T/C] NM_001195555,NM_001195556,NM_014666 CLINT1,CLINT1,CLINT1 EXON Missense_M456V,Missense_M438V,Missense_M456V exm499934 5 157218761 [T/C] NM_001195555,NM_001195556,NM_014666 CLINT1,CLINT1,CLINT1 EXON Missense_M444V,Missense_M426V,Missense_M444V exm499935 5 157218778 [T/C] NM_001195555,NM_001195556,NM_014666 CLINT1,CLINT1,CLINT1 EXON Missense_Q438R,Missense_Q420R,Missense_Q438R exm2257071 5 157218921 [A/G] NM_001195555,NM_001195556,NM_014666 CLINT1,CLINT1,CLINT1 EXON Synonymous_G390G,Synonymous_G372G,Synonymous_G390G exm499957 5 157240156 [C/G] NM_001195555,NM_001195556,NM_014666 CLINT1,CLINT1,CLINT1 EXON Missense_R144S,Missense_R126S,Missense_R144S exm2270154 5 157528319 [T/G] exm2270260 5 157551411 [T/G] exm-rs2963464 5 158061140 [A/G] exm499983 5 158139228 [T/C] NM_024007 EBF1 EXON Missense_A495T exm500012 5 158250294 [T/C] NM_024007 EBF1 EXON Missense_G223D exm2257073 5 158258461 [T/C] NM_024007 EBF1 Silent exm2266030 5 158366263 [A/G] NM_024007 EBF1 Silent exm2093764 5 158522674 [A/G] NM_024007 EBF1 EXON Missense_T122M exm-rs1473247 5 158603571 [T/C] NM_144726,NM_001199381,NM_001199380,NM_001199382,NM_001199383 RNF145,RNF145,RNF145,RNF145,RNF145 Silent,Silent,Silent,Silent,Silent exm2266136 5 158604963 [A/G] NM_144726,NM_001199381,NM_001199380,NM_001199382,NM_001199383 RNF145,RNF145,RNF145,RNF145,RNF145 Silent,Silent,Silent,Silent,Silent exm500105 5 158630642 [T/C] NM_144726,NM_001199381,NM_001199380,NM_001199382,NM_001199383 RNF145,RNF145,RNF145,RNF145,RNF145 EXON Missense_K23R,Missense_K12R,Missense_K25R,Missense_K9R,Silent exm2242131 5 158634789 [T/C] NM_144726,NM_001199381,NM_001199380,NM_001199383 RNF145,RNF145,RNF145,RNF145 EXON Missense_I7V,Silent,Silent,Silent exm500140 5 158702232 [T/C] NM_145049 UBLCP1 EXON Missense_T221I exm500141 5 158702254 [T/C] NM_145049 UBLCP1 EXON Synonymous_D228D exm-rs2082412 5 158717789 [A/G] exm500148 5 158743719 [T/C] NM_002187 IL12B EXON Missense_E321K exm500154 5 158743788 [A/C] NM_002187 IL12B EXON Missense_V298F exm500165 5 158745776 [T/C] NM_002187 IL12B EXON Missense_V275I exm500166 5 158745844 [A/C] NM_002187 IL12B EXON Missense_V252G exm500167 5 158745850 [T/C] NM_002187 IL12B EXON Missense_R250Q exm500172 5 158747334 [T/C] NM_002187 IL12B EXON Missense_S226N exm500174 5 158747368 [T/C] NM_002187 IL12B EXON Missense_V215I exm500179 5 158747467 [T/C] NM_002187 IL12B EXON Missense_G182R exm500191 5 158750143 [T/C] NM_002187 IL12B EXON Missense_E95K exm500197 5 158750329 [T/C] NM_002187 IL12B EXON Missense_V33I exm-rs3213094 5 158750769 [T/C] NM_002187 IL12B Silent exm-rs2546890 5 158759900 [A/G] NR_037889 LOC285626 EXON Silent exm-rs6556412 5 158787385 [A/G] NR_037889 LOC285626 Silent exm-rs10045431 5 158814533 [A/C] exm-rs6887695 5 158822645 [G/C] exm-rs6871626 5 158826792 [A/C] exm-rs12188300 5 158829527 [T/A] exm2266031 5 159021900 [A/G] exm2261865 5 159129186 [T/G] exm500208 5 159344040 [T/C] NM_000679 ADRA1B EXON Missense_T43I exm2266032 5 159369429 [A/G] NM_000679 ADRA1B Silent exm500244 5 159399005 [T/C] NM_000679 ADRA1B EXON Missense_R357C exm500262 5 159437621 [G/C] NM_003314 TTC1 EXON Missense_A29G exm500269 5 159437762 [T/C] NM_003314 TTC1 EXON Missense_A76V exm500278 5 159463719 [T/C] NM_003314 TTC1 EXON Missense_S138F exm500295 5 159492041 [A/G] NM_003314 TTC1 EXON Missense_N283S exm500296 5 159492046 [A/G] NM_003314 TTC1 EXON Missense_V285I exm500322 5 159520483 [A/C] NM_001267035,NM_052927,NM_001130864 PWWP2A,PWWP2A,PWWP2A EXON Missense_A392S,Missense_A392S,Missense_A392S exm500337 5 159520921 [T/C] NM_001267035,NM_052927,NM_001130864 PWWP2A,PWWP2A,PWWP2A EXON Missense_V246I,Missense_V246I,Missense_V246I exm500340 5 159521001 [A/G] NM_001267035,NM_052927,NM_001130864 PWWP2A,PWWP2A,PWWP2A EXON Missense_P219L,Missense_P219L,Missense_P219L exm500364 5 159640783 [A/G] NM_001130958,NM_001040442 FABP6,FABP6 EXON Missense_R31Q,Missense_R31Q exm500367 5 159656561 [G/C] NM_001130958,NM_001040442,NM_001445 FABP6,FABP6,FABP6 EXON Missense_S48R,Missense_S48R,Silent exm500372 5 159656626 [A/T] NM_001130958,NM_001040442,NM_001445 FABP6,FABP6,FABP6 EXON Missense_L70H,Missense_L70H,Missense_L21H exm500376 5 159659132 [T/C] NM_001130958,NM_001040442,NM_001445 FABP6,FABP6,FABP6 EXON Missense_A81V,Missense_A81V,Missense_A32V exm500378 5 159659149 [A/G] NM_001130958,NM_001040442,NM_001445 FABP6,FABP6,FABP6 EXON Missense_V87I,Missense_V87I,Missense_V38I exm500384 5 159659203 [A/G] NM_001130958,NM_001040442,NM_001445 FABP6,FABP6,FABP6 EXON Missense_G105R,Missense_G105R,Missense_G56R exm500385 5 159659204 [T/G] NM_001130958,NM_001040442,NM_001445 FABP6,FABP6,FABP6 EXON Missense_G105V,Missense_G105V,Missense_G56V exm500387 5 159659210 [A/G] NM_001130958,NM_001040442,NM_001445 FABP6,FABP6,FABP6 EXON Missense_H107R,Missense_H107R,Missense_H58R exm500388 5 159659217 [C/G] NM_001130958,NM_001040442,NM_001445 FABP6,FABP6,FABP6 EXON Missense_M109I,Missense_M109I,Missense_M60I exm500390 5 159659260 [A/G] NM_001130958,NM_001040442,NM_001445 FABP6,FABP6,FABP6 EXON Missense_M124V,Missense_M124V,Missense_M75V exm500391 5 159659262 [A/G] NM_001130958,NM_001040442,NM_001445 FABP6,FABP6,FABP6 EXON Missense_M124I,Missense_M124I,Missense_M75I exm500392 5 159659273 [T/C] NM_001130958,NM_001040442,NM_001445 FABP6,FABP6,FABP6 EXON Missense_T128M,Missense_T128M,Missense_T79M exm500397 5 159665631 [A/G] NM_001130958,NM_001040442,NM_001445 FABP6,FABP6,FABP6 EXON Missense_V167M,Missense_V167M,Missense_V118M exm500399 5 159665646 [A/G] NM_001130958,NM_001040442,NM_001445 FABP6,FABP6,FABP6 EXON Missense_V172M,Missense_V172M,Missense_V123M exm500409 5 159680516 [T/C] NM_024565 CCNJL EXON Missense_V393M exm500411 5 159680551 [A/G] NM_024565 CCNJL EXON Missense_P381L exm2257078 5 159680757 [T/G] NM_024565 CCNJL EXON Synonymous_A312A exm500424 5 159680771 [T/C] NM_024565 CCNJL EXON Missense_V308I exm500425 5 159682584 [C/G] NM_024565 CCNJL EXON Missense_L287V exm500435 5 159686503 [A/G] NM_024565 CCNJL EXON Missense_H234Y exm500438 5 159686535 [T/C] NM_024565 CCNJL EXON Missense_R223H exm500439 5 159686536 [A/G] NM_024565 CCNJL EXON Missense_R223C exm500445 5 159686752 [T/C] NM_024565 CCNJL EXON Missense_V151I exm500456 5 159707588 [T/C] NM_024565 CCNJL EXON Missense_N75S exm500458 5 159707679 [A/T] NM_024565 CCNJL EXON Missense_I45F exm500481 5 159776311 [A/G] NM_031908 C1QTNF2 EXON Missense_L286P exm500488 5 159776507 [T/C] NM_031908 C1QTNF2 EXON Missense_E221K exm500493 5 159776668 [A/G] NM_031908 C1QTNF2 EXON Missense_T167I exm2093928 5 159776690 [T/C] NM_031908 C1QTNF2 EXON Missense_G160S exm500504 5 159781796 [A/G] NM_031908 C1QTNF2 EXON Missense_R120W exm500508 5 159781844 [A/G] NM_031908 C1QTNF2 EXON Nonsense_R104X exm500526 5 159820751 [T/C] NM_022090 C5orf54 EXON Missense_I583V exm500529 5 159820792 [T/C] NM_022090 C5orf54 EXON Missense_R569H exm500534 5 159820931 [A/C] NM_022090 C5orf54 EXON Missense_A523S exm500536 5 159821051 [T/C] NM_022090 C5orf54 EXON Missense_D483N exm500537 5 159821054 [T/C] NM_022090 C5orf54 EXON Missense_I482V exm500542 5 159821116 [T/C] NM_022090 C5orf54 EXON Missense_Y461C exm500552 5 159821515 [T/C] NM_022090 C5orf54 EXON Missense_H328R exm500555 5 159821636 [T/C] NM_022090 C5orf54 EXON Missense_R288G exm500558 5 159821699 [T/C] NM_022090 C5orf54 EXON Missense_V267I exm500561 5 159821755 [T/A] NM_022090 C5orf54 EXON Missense_M248K exm500563 5 159821808 [A/T] NM_022090 C5orf54 EXON Missense_H230Q exm500564 5 159821828 [T/C] NM_022090 C5orf54 EXON Missense_R224G exm2093949 5 159821842 [A/C] NM_022090 C5orf54 EXON Missense_V219G exm500569 5 159821920 [T/C] NM_022090 C5orf54 EXON Missense_R193H exm500573 5 159822053 [T/C] NM_022090 C5orf54 EXON Missense_R149G exm500582 5 159822263 [A/C] NM_022090 C5orf54 EXON Missense_L79V exm500583 5 159822271 [A/C] NM_022090 C5orf54 EXON Missense_S76I exm500584 5 159822298 [T/C] NM_022090 C5orf54 EXON Missense_K67R exm500589 5 159822407 [T/C] NM_022090 C5orf54 EXON Missense_V31M exm500592 5 159822493 [A/G] NM_022090 C5orf54 EXON Missense_S2L exm500609 5 159832038 [A/G] NM_006425 SLU7 EXON Synonymous_V464V exm500613 5 159832132 [T/C] NM_006425 SLU7 EXON Missense_G433E exm500616 5 159833476 [A/G] NM_006425 SLU7 EXON Missense_T429I exm500619 5 159833521 [A/G] NM_006425 SLU7 EXON Missense_V414A exm500621 5 159833548 [C/G] NM_006425 SLU7 EXON Missense_T405R exm500634 5 159835658 [A/G] NM_006425 SLU7 EXON Missense_M229T exm500652 5 159840935 [A/T] NM_006425 SLU7 EXON Missense_M126L exm500665 5 159849327 [A/C] NM_004219 PTTG1 EXON Missense_T3N exm-rs2431697 5 159879978 [T/C] exm2257079 5 159882797 [A/C] exm2266137 5 159920295 [A/G] exm500694 5 159992486 [A/G] NM_025153 ATP10B EXON Nonsense_R1454X exm500695 5 159992500 [T/C] NM_025153 ATP10B EXON Missense_R1449K exm500697 5 159992512 [T/C] NM_025153 ATP10B EXON Missense_R1445Q exm500700 5 159992585 [A/G] NM_025153 ATP10B EXON Missense_L1421F exm500701 5 159992594 [A/C] NM_025153 ATP10B EXON Missense_S1418A exm500703 5 159992642 [T/C] NM_025153 ATP10B EXON Missense_R1402G exm500704 5 159992648 [T/C] NM_025153 ATP10B EXON Missense_E1400K exm2094003 5 159992771 [T/G] NM_025153 ATP10B EXON Missense_P1359T exm500719 5 159996598 [T/G] NM_025153 ATP10B EXON Missense_S1281R exm2094008 5 160016649 [T/C] NM_025153 ATP10B EXON Missense_I1234V exm500723 5 160016684 [A/G] NM_025153 ATP10B EXON Missense_I1222T exm500737 5 160025899 [T/C] NM_025153 ATP10B EXON Missense_I1148V exm500744 5 160029649 [T/C] NM_025153 ATP10B EXON Missense_V1100M exm500752 5 160033797 [G/C] NM_025153 ATP10B EXON Missense_K1045N exm500754 5 160033846 [T/C] NM_025153 ATP10B EXON Missense_R1029H exm500759 5 160033864 [T/C] NM_025153 ATP10B EXON Missense_R1023Q exm500763 5 160034015 [A/G] NM_025153 ATP10B EXON Missense_L973F exm500764 5 160034020 [T/C] NM_025153 ATP10B EXON Missense_R971H exm500766 5 160034042 [A/G] NM_025153 ATP10B EXON Missense_R964C exm500770 5 160039767 [T/G] NM_025153 ATP10B EXON Missense_T940N exm500779 5 160042903 [T/G] NM_025153 ATP10B EXON Missense_N865K exm500780 5 160042905 [T/C] NM_025153 ATP10B EXON Missense_N865D exm500782 5 160042928 [T/C] NM_025153 ATP10B EXON Missense_R857H exm500784 5 160042931 [T/C] NM_025153 ATP10B EXON Missense_R856Q exm500785 5 160042949 [T/C] NM_025153 ATP10B EXON Missense_R850Q exm500789 5 160044936 [A/G] NM_025153 ATP10B EXON Missense_R821W exm500799 5 160047494 [T/C] NM_025153 ATP10B EXON Missense_S759N exm500804 5 160047528 [A/C] NM_025153 ATP10B EXON Missense_V748L exm500805 5 160047534 [T/C] NM_025153 ATP10B EXON Missense_V746M exm500809 5 160047618 [T/C] NM_025153 ATP10B EXON Missense_E718K exm500815 5 160047724 [T/G] NM_025153 ATP10B EXON Missense_S682R exm500817 5 160047759 [T/C] NM_025153 ATP10B EXON Missense_G671R exm500821 5 160047828 [T/C] NM_025153 ATP10B EXON Missense_G648R exm2242147 5 160049420 [A/G] NM_025153 ATP10B EXON Missense_T598I exm500837 5 160049549 [T/C] NM_025153 ATP10B EXON Missense_R555Q exm500839 5 160049586 [T/C] NM_025153 ATP10B EXON Missense_D543N exm500840 5 160059137 [A/G] NM_025153 ATP10B EXON Missense_I540T exm500847 5 160059293 [A/C] NM_025153 ATP10B EXON Missense_R488I exm2094053 5 160061418 [T/C] NM_025153 ATP10B EXON Missense_K442E exm500858 5 160061565 [A/C] NM_025153 ATP10B EXON Missense_G393W exm500872 5 160071234 [T/G] NM_025153 ATP10B EXON Missense_T260N exm500876 5 160076251 [T/C] NM_025153 ATP10B EXON Missense_E230K exm500882 5 160097496 [A/G] NM_025153 ATP10B EXON Missense_C217R exm500887 5 160097555 [T/C] NM_025153 ATP10B EXON Missense_N197S exm500890 5 160097633 [T/C] NM_025153 ATP10B EXON Missense_R171H exm500891 5 160097634 [A/G] NM_025153 ATP10B EXON Missense_R171C exm2275836 5 160097663 [A/G] NM_025153 ATP10B EXON Missense_T161I exm500895 5 160113099 [A/G] NM_025153 ATP10B EXON Nonsense_R153X exm500901 5 160113242 [T/C] NM_025153 ATP10B EXON Missense_N105S exm500908 5 160114898 [T/C] NM_025153 ATP10B EXON Missense_V62I exm500911 5 160114968 [G/C] NM_025153 ATP10B EXON Missense_Q38H exm500916 5 160115026 [A/C] NM_025153 ATP10B EXON Missense_G19V exm500918 5 160115051 [A/G] NM_025153 ATP10B EXON Missense_R11W exm-rs10062843 5 160127677 [T/C] NM_025153 ATP10B Silent exm2257080 5 160343115 [T/C] exm500929 5 160721254 [T/C] NM_021911,NM_000813 GABRB2,GABRB2 EXON Missense_R458Q,Missense_R420Q exm500936 5 160721405 [T/G] NM_021911,NM_000813 GABRB2,GABRB2 EXON Missense_T408P,Missense_T370P exm2261868 5 160731164 [T/C] NM_021911,NM_000813 GABRB2,GABRB2 Silent,Silent exm500939 5 160753392 [T/C] NM_021911,NM_000813 GABRB2,GABRB2 EXON Missense_D392N,Silent exm2242148 5 160757907 [A/G] NM_021911,NM_000813 GABRB2,GABRB2 EXON Missense_R354C,Missense_R354C exm2257082 5 160985411 [T/C] exm500987 5 161113235 [C/G] NM_000811 GABRA6 Silent exm500995 5 161115984 [G/C] NM_000811 GABRA6 EXON Missense_Q85H exm2257083 5 161116045 [T/C] NM_000811 GABRA6 EXON Synonymous_L106L exm500999 5 161116051 [A/G] NM_000811 GABRA6 EXON Missense_V108I exm501014 5 161116672 [T/C] NM_000811 GABRA6 EXON Missense_T187M exm501026 5 161117243 [A/G] NM_000811 GABRA6 EXON Missense_Q237R exm501033 5 161117338 [A/G] NM_000811 GABRA6 EXON Missense_V269I exm501045 5 161119160 [T/C] NM_000811 GABRA6 EXON Missense_V347A exm501055 5 161128627 [T/C] NM_000811 GABRA6 EXON Missense_P404S exm501059 5 161128694 [G/C] NM_000811 GABRA6 EXON Missense_P426R exm2266033 5 161179799 [A/G] exm501076 5 161277843 [A/C] NM_000806,NM_001127643,NM_001127644,NM_001127645,NM_001127648 GABRA1,GABRA1,GABRA1,GABRA1,GABRA1 EXON Missense_D9E,Missense_D9E,Missense_D9E,Missense_D9E,Missense_D9E exm501079 5 161281164 [T/C] NM_000806,NM_001127643,NM_001127644,NM_001127645,NM_001127648 GABRA1,GABRA1,GABRA1,GABRA1,GABRA1 EXON Synonymous_S25S,Synonymous_S25S,Synonymous_S25S,Synonymous_S25S,Synonymous_S25S exm2094187 5 161495057 [G/C] NM_198903,NM_000816,NM_198904 GABRG2,GABRG2,GABRG2 EXON Missense_V18L,Missense_V18L,Missense_V18L exm501129 5 161531031 [T/C] NM_198903,NM_000816,NM_198904 GABRG2,GABRG2,GABRG2 EXON Synonymous_S296S,Synonymous_S256S,Synonymous_S256S exm-rs2125343 5 162409703 [T/C] exm2257086 5 162626996 [T/G] exm2261870 5 162652827 [T/C] exm501161 5 162866351 [A/G] NM_199246,NM_004060 CCNG1,CCNG1 EXON Missense_K30R,Missense_K30R exm2242154 5 162866353 [T/G] NM_199246,NM_004060 CCNG1,CCNG1 EXON Missense_V31F,Missense_V31F exm501173 5 162868171 [A/G] NM_199246,NM_004060 CCNG1,CCNG1 EXON Missense_A118T,Missense_A118T exm501177 5 162868326 [C/G] NM_199246,NM_004060 CCNG1,CCNG1 EXON Missense_L169F,Missense_L169F exm501179 5 162868905 [A/C] NM_199246,NM_004060 CCNG1,CCNG1 EXON Missense_N178H,Missense_N178H exm501180 5 162868910 [T/G] NM_199246,NM_004060 CCNG1,CCNG1 EXON Missense_F179L,Missense_F179L exm501188 5 162869426 [A/G] NM_199246,NM_004060 CCNG1,CCNG1 EXON Missense_C248Y,Missense_C248Y exm2094233 5 162869498 [A/G] NM_199246,NM_004060 CCNG1,CCNG1 EXON Missense_R272H,Missense_R272H exm501192 5 162869507 [A/G] NM_199246,NM_004060 CCNG1,CCNG1 EXON Missense_R275Q,Missense_R275Q exm501202 5 162884015 [C/G] NM_145266 NUDCD2 EXON Missense_L104V exm501204 5 162884073 [T/C] NM_145266 NUDCD2 EXON Missense_M84I exm501248 5 162896650 [T/C] NM_012484,NM_012485,NM_001142556,NM_001142557 HMMR,HMMR,HMMR,HMMR EXON Missense_R92C,Missense_R77C,Missense_R93C,Missense_R6C exm501251 5 162896686 [T/C] NM_012484,NM_012485,NM_001142556,NM_001142557 HMMR,HMMR,HMMR,HMMR EXON Missense_R104W,Missense_R89W,Missense_R105W,Missense_R18W exm501254 5 162896759 [C/G] NM_012484,NM_012485,NM_001142556,NM_001142557 HMMR,HMMR,HMMR,HMMR EXON Missense_S128C,Missense_S113C,Missense_S129C,Missense_S42C exm501255 5 162896779 [A/G] NM_012484,NM_012485,NM_001142556,NM_001142557 HMMR,HMMR,HMMR,HMMR EXON Missense_T135A,Missense_T120A,Missense_T136A,Missense_T49A exm501266 5 162898429 [A/G] NM_012484,NM_012485,NM_001142556,NM_001142557 HMMR,HMMR,HMMR,HMMR EXON Missense_E203K,Missense_E188K,Missense_E204K,Missense_E117K exm501270 5 162900426 [T/C] NM_012484,NM_012485,NM_001142556,NM_001142557 HMMR,HMMR,HMMR,HMMR EXON Missense_A255V,Missense_A240V,Missense_A256V,Missense_A169V exm501273 5 162900493 [G/C] NM_012484,NM_012485,NM_001142556,NM_001142557 HMMR,HMMR,HMMR,HMMR EXON Missense_E277D,Missense_E262D,Missense_E278D,Missense_E191D exm2094266 5 162900515 [C/G] NM_012484,NM_012485,NM_001142556,NM_001142557 HMMR,HMMR,HMMR,HMMR EXON Missense_Q285E,Missense_Q270E,Missense_Q286E,Missense_Q199E exm501277 5 162901121 [G/C] NM_012484,NM_012485,NM_001142556,NM_001142557 HMMR,HMMR,HMMR,HMMR EXON Missense_N320K,Missense_N305K,Missense_N321K,Missense_N234K exm501278 5 162901156 [A/G] NM_012484,NM_012485,NM_001142556,NM_001142557 HMMR,HMMR,HMMR,HMMR EXON Missense_R332H,Missense_R317H,Missense_R333H,Missense_R246H exm501281 5 162902464 [T/G] NM_012484,NM_012485,NM_001142556,NM_001142557 HMMR,HMMR,HMMR,HMMR EXON Nonsense_E351X,Nonsense_E336X,Nonsense_E352X,Nonsense_E265X exm501284 5 162902516 [T/C] NM_012484,NM_012485,NM_001142556,NM_001142557 HMMR,HMMR,HMMR,HMMR EXON Missense_V368A,Missense_V353A,Missense_V369A,Missense_V282A exm501289 5 162902578 [T/C] NM_012484,NM_012485,NM_001142556,NM_001142557 HMMR,HMMR,HMMR,HMMR EXON Nonsense_Q389X,Nonsense_Q374X,Nonsense_Q390X,Nonsense_Q303X exm501295 5 162909667 [A/G] NM_012484,NM_012485,NM_001142556,NM_001142557 HMMR,HMMR,HMMR,HMMR EXON Missense_S468G,Missense_S453G,Missense_S469G,Missense_S382G exm501297 5 162909691 [A/G] NM_012484,NM_012485,NM_001142556,NM_001142557 HMMR,HMMR,HMMR,HMMR EXON Missense_E476K,Missense_E461K,Missense_E477K,Missense_E390K exm501300 5 162909716 [T/C] NM_012484,NM_012485,NM_001142556,NM_001142557 HMMR,HMMR,HMMR,HMMR EXON Missense_A484V,Missense_A469V,Missense_A485V,Missense_A398V exm501303 5 162910126 [T/C] NM_012484,NM_012485,NM_001142556,NM_001142557 HMMR,HMMR,HMMR,HMMR EXON Missense_L544F,Missense_L529F,Missense_L545F,Missense_L458F exm501305 5 162910136 [A/G] NM_012484,NM_012485,NM_001142556,NM_001142557 HMMR,HMMR,HMMR,HMMR EXON Missense_Q547R,Missense_Q532R,Missense_Q548R,Missense_Q461R exm501308 5 162910165 [G/C] NM_012484,NM_012485,NM_001142556,NM_001142557 HMMR,HMMR,HMMR,HMMR EXON Missense_D557H,Missense_D542H,Missense_D558H,Missense_D471H exm501311 5 162910327 [A/G] NM_012484,NM_012485,NM_001142556,NM_001142557 HMMR,HMMR,HMMR,HMMR EXON Nonsense_W579X,Nonsense_W564X,Nonsense_W580X,Nonsense_W493X exm501312 5 162910329 [T/C] NM_012484,NM_012485,NM_001142556,NM_001142557 HMMR,HMMR,HMMR,HMMR EXON Missense_R580C,Missense_R565C,Missense_R581C,Missense_R494C exm501315 5 162911075 [A/C] NM_012484,NM_012485,NM_001142556,NM_001142557 HMMR,HMMR,HMMR,HMMR EXON Missense_L595I,Missense_L580I,Missense_L596I,Missense_L509I exm2094284 5 162911142 [A/C] NM_012484,NM_012485,NM_001142556,NM_001142557 HMMR,HMMR,HMMR,HMMR EXON Missense_Q617P,Missense_Q602P,Missense_Q618P,Missense_Q531P exm501319 5 162911198 [T/C] NM_012484,NM_012485,NM_001142556,NM_001142557 HMMR,HMMR,HMMR,HMMR EXON Nonsense_Q636X,Nonsense_Q621X,Nonsense_Q637X,Nonsense_Q550X exm2094285 5 162911217 [T/C] NM_012484,NM_012485,NM_001142556,NM_001142557 HMMR,HMMR,HMMR,HMMR EXON Missense_V642A,Missense_V627A,Missense_V643A,Missense_V556A exm501322 5 162917412 [A/G] NM_012484,NM_012485,NM_001142556,NM_001142557 HMMR,HMMR,HMMR,HMMR EXON Missense_R659H,Missense_R644H,Missense_R660H,Missense_R573H exm501333 5 162930428 [A/C] NM_182796 MAT2B EXON Missense_Q10K exm501341 5 162939092 [G/C] NM_182796,NM_013283 MAT2B,MAT2B EXON Missense_Q39E,Missense_Q50E exm501359 5 162940999 [A/G] NM_182796,NM_013283 MAT2B,MAT2B EXON Synonymous_L164L,Synonymous_L175L exm501374 5 162945217 [G/C] NM_182796,NM_013283 MAT2B,MAT2B EXON Missense_L274V,Missense_L285V exm501376 5 162945230 [A/G] NM_182796,NM_013283 MAT2B,MAT2B EXON Missense_R278H,Missense_R289H exm501379 5 162945269 [T/C] NM_182796,NM_013283 MAT2B,MAT2B EXON Missense_T291I,Missense_T302I exm2266035 5 163009137 [A/G] exm2266036 5 163633239 [A/G] exm2270264 5 163658742 [T/C] exm-rs10068788 5 163830931 [A/G] exm-rs6556756 5 163889280 [T/G] exm2270159 5 164170049 [T/G] exm2261872 5 164306736 [T/C] exm-rs10066478 5 164370690 [A/G] exm2264138 5 164877178 [A/C] exm-rs958994 5 165063884 [A/G] exm-rs9313296 5 165377699 [G/C] exm2257093 5 165402097 [T/C] exm2261873 5 165553143 [A/C] exm2257094 5 165695551 [A/G] exm-rs2122554 5 165957086 [T/G] exm2264157 5 165995262 [A/C] exm2270161 5 166220131 [T/C] exm-rs17404956 5 166389493 [A/G] exm501383 5 166711862 [A/G] NM_001122679 TENM2 EXON Missense_R7Q exm501391 5 166802316 [A/G] NM_001122679 TENM2 EXON Missense_D114N exm2266038 5 166840321 [A/G] NM_001122679 TENM2 Silent exm2261875 5 167095559 [A/C] NM_001122679 TENM2 Silent exm-rs7723247 5 167115062 [T/C] NM_001122679 TENM2 Silent exm2257097 5 167351652 [A/G] NM_001122679 TENM2 Silent exm501426 5 167474474 [A/G] NM_001122679 TENM2 EXON Missense_D410G exm501427 5 167474521 [A/G] NM_001122679 TENM2 EXON Missense_D426N exm501434 5 167489170 [A/G] NM_001122679 TENM2 EXON Missense_H472R exm-rs9313396 5 167499832 [T/G] NM_001122679 TENM2 Silent exm501446 5 167525052 [A/G] NM_001122679 TENM2 EXON Missense_R578H exm501468 5 167553801 [C/G] NM_001122679 TENM2 EXON Missense_G751A exm501471 5 167553813 [A/G] NM_001122679 TENM2 EXON Missense_R755H exm501475 5 167553912 [A/G] NM_001122679 TENM2 EXON Missense_R788Q exm501488 5 167617453 [T/C] NM_001122679 TENM2 EXON Missense_T885M exm501492 5 167622277 [A/C] NM_001122679 TENM2 EXON Nonsense_Y950X exm501498 5 167626105 [A/G] NM_001122679 TENM2 EXON Missense_V1041M exm501507 5 167630714 [A/G] NM_001122679 TENM2 EXON Missense_E1142K exm2257098 5 167631555 [G/C] NM_001122679 TENM2 EXON Synonymous_L1242L exm501515 5 167631555 [G/C] NM_001122679 TENM2 EXON Synonymous_L1242L exm501516 5 167631599 [A/G] NM_001122679 TENM2 EXON Missense_R1257Q exm501524 5 167642133 [T/C] NM_001122679 TENM2 EXON Missense_R1303C exm501528 5 167642176 [T/C] NM_001122679 TENM2 EXON Missense_S1317L exm501529 5 167642181 [T/G] NM_001122679 TENM2 EXON Missense_V1319F exm501567 5 167645826 [C/G] NM_001122679 TENM2 EXON Missense_G1635R exm2242172 5 167645865 [A/G] NM_001122679 TENM2 EXON Missense_I1648V exm501569 5 167645877 [A/G] NM_001122679 TENM2 EXON Missense_V1652M exm501571 5 167645904 [A/G] NM_001122679 TENM2 EXON Missense_V1661M exm501572 5 167645928 [A/G] NM_001122679 TENM2 EXON Missense_G1669S exm2266139 5 167657421 [A/G] NM_001122679 TENM2 Silent exm501593 5 167671603 [A/G] NM_001122679 TENM2 EXON Missense_R1891H exm501596 5 167671668 [A/G] NM_001122679 TENM2 EXON Missense_V1913M exm501600 5 167673790 [A/G] NM_001122679 TENM2 EXON Missense_R1940H exm501615 5 167674158 [G/C] NM_001122679 TENM2 EXON Missense_V2063L exm501618 5 167674284 [A/G] NM_001122679 TENM2 EXON Missense_V2105I exm501639 5 167674827 [A/G] NM_001122679 TENM2 EXON Missense_G2286R exm501650 5 167675031 [A/G] NM_001122679 TENM2 EXON Missense_E2354K exm501655 5 167675135 [T/G] NM_001122679 TENM2 EXON Missense_I2388M exm501669 5 167675370 [A/G] NM_001122679 TENM2 EXON Missense_V2467M exm501671 5 167689078 [A/G] NM_001122679 TENM2 EXON Missense_T2521A exm501673 5 167689123 [A/G] NM_001122679 TENM2 EXON Missense_I2536V exm501680 5 167689243 [A/G] NM_001122679 TENM2 EXON Missense_V2576M exm501681 5 167689250 [A/G] NM_001122679 TENM2 EXON Missense_S2578N exm501682 5 167689255 [A/G] NM_001122679 TENM2 EXON Missense_A2580T exm501703 5 167689607 [T/C] NM_001122679 TENM2 EXON Missense_T2697M exm2266040 5 167790204 [A/G] NM_001161662,NM_001161661,NM_015238 WWC1,WWC1,WWC1 Silent,Silent,Silent exm501734 5 167835539 [T/C] NM_001161662,NM_001161661,NM_015238 WWC1,WWC1,WWC1 EXON Missense_R250C,Missense_R250C,Missense_R250C exm501742 5 167835606 [T/C] NM_001161662,NM_001161661,NM_015238 WWC1,WWC1,WWC1 EXON Missense_P272L,Missense_P272L,Missense_P272L exm501747 5 167835629 [A/G] NM_001161662,NM_001161661,NM_015238 WWC1,WWC1,WWC1 EXON Missense_V280M,Missense_V280M,Missense_V280M exm501760 5 167841589 [T/C] NM_001161662,NM_001161661,NM_015238 WWC1,WWC1,WWC1 EXON Missense_T393M,Missense_T393M,Missense_T393M exm501785 5 167850813 [A/G] NM_001161662,NM_001161661,NM_015238 WWC1,WWC1,WWC1 EXON Missense_R517H,Missense_R517H,Missense_R517H exm501792 5 167850972 [T/C] NM_001161662,NM_001161661,NM_015238 WWC1,WWC1,WWC1 EXON Missense_P570L,Missense_P570L,Missense_P570L exm501797 5 167855044 [A/G] NM_001161662,NM_001161661,NM_015238 WWC1,WWC1,WWC1 EXON Missense_N606S,Missense_N606S,Missense_N606S exm501810 5 167855741 [A/T] NM_001161662,NM_001161661,NM_015238 WWC1,WWC1,WWC1 EXON Missense_D650V,Missense_D650V,Missense_D650V exm501811 5 167855743 [A/G] NM_001161662,NM_001161661,NM_015238 WWC1,WWC1,WWC1 EXON Missense_S651G,Missense_S651G,Missense_S651G exm501818 5 167857225 [A/G] NM_001161662,NM_001161661,NM_015238 WWC1,WWC1,WWC1 EXON Missense_K695R,Missense_K695R,Missense_K695R exm501824 5 167858319 [G/C] NM_001161662,NM_001161661,NM_015238 WWC1,WWC1,WWC1 EXON Missense_P717R,Missense_P717R,Missense_P717R exm501827 5 167858371 [T/G] NM_001161662,NM_001161661,NM_015238 WWC1,WWC1,WWC1 EXON Missense_M734I,Missense_M734I,Missense_M734I exm501828 5 167858372 [T/G] NM_001161662,NM_001161661,NM_015238 WWC1,WWC1,WWC1 EXON Missense_S735A,Missense_S735A,Missense_S735A exm501830 5 167858430 [A/G] NM_001161662,NM_001161661,NM_015238 WWC1,WWC1,WWC1 EXON Missense_S754N,Missense_S754N,Missense_S754N exm501841 5 167868798 [T/C] NM_001161662,NM_001161661,NM_015238 WWC1,WWC1,WWC1 EXON Missense_P798S,Missense_P798S,Missense_P798S exm501849 5 167881032 [A/T] NM_001161662,NM_001161661,NM_015238 WWC1,WWC1,WWC1 EXON Missense_E862V,Missense_E862V,Missense_E862V exm501850 5 167881041 [A/G] NM_001161662,NM_001161661,NM_015238 WWC1,WWC1,WWC1 EXON Missense_E865G,Missense_E865G,Missense_E865G exm501852 5 167881044 [A/G] NM_001161662,NM_001161661,NM_015238 WWC1,WWC1,WWC1 EXON Missense_G866E,Missense_G866E,Missense_G866E exm501864 5 167882425 [A/G] NM_001161662,NM_001161661,NM_015238 WWC1,WWC1,WWC1 EXON Missense_R908Q,Missense_R908Q,Missense_R908Q exm501874 5 167891741 [T/C] NM_001161662,NM_001161661,NM_015238 WWC1,WWC1,WWC1 EXON Missense_S981L,Missense_S981L,Missense_S975L exm501878 5 167891765 [A/G] NM_001161662,NM_001161661,NM_015238 WWC1,WWC1,WWC1 EXON Missense_R989H,Missense_R989H,Missense_R983H exm501886 5 167891932 [T/C] NM_001161662,NM_001161661,NM_015238 WWC1,WWC1,WWC1 EXON Missense_R1045C,Missense_R1045C,Missense_R1039C exm501898 5 167894921 [A/G] NM_001161662,NM_001161661,NM_015238 WWC1,WWC1,WWC1 EXON Missense_R1081K,Missense_R1082K,Missense_R1076K exm501901 5 167895979 [A/G] NM_001161662,NM_001161661,NM_015238 WWC1,WWC1,WWC1 EXON Missense_R1105Q,Missense_R1106Q,Missense_R1100Q exm501913 5 167913510 [A/G] NM_002887 RARS EXON Missense_V3I exm501916 5 167913522 [C/G] NM_002887 RARS EXON Missense_E7Q exm501922 5 167915643 [T/C] NM_002887 RARS EXON Missense_R28W exm501929 5 167919689 [T/C] NM_002887 RARS EXON Missense_P69L exm501930 5 167919703 [A/G] NM_002887 RARS EXON Missense_I74V exm501936 5 167919848 [T/C] NM_002887 RARS EXON Missense_S122F exm501945 5 167922442 [A/G] NM_002887 RARS Silent exm2257100 5 167924260 [A/C] NM_002887 RARS EXON Synonymous_T243T exm501951 5 167924307 [A/G] NM_002887 RARS EXON Missense_Y259C exm2094594 5 167924324 [T/C] NM_002887 RARS EXON Missense_P265S exm501954 5 167927719 [T/C] NM_002887 RARS EXON Missense_R316C exm501956 5 167929035 [A/G] NM_002887 RARS EXON Missense_V328I exm501963 5 167933095 [T/A] NM_002887 RARS EXON Missense_V376E exm501979 5 167937606 [T/C] NM_002887 RARS EXON Missense_S456L exm2094608 5 167937653 [T/C] NM_002887 RARS EXON Nonsense_R472X exm501985 5 167943822 [A/G] NM_002887 RARS EXON Missense_V498I exm501987 5 167943862 [A/G] NM_002887 RARS EXON Missense_N511S exm501997 5 167944920 [T/C] NM_002887 RARS EXON Missense_R576W exm502008 5 167946115 [T/A] NM_002887 RARS EXON Missense_M635L exm502009 5 167946124 [A/T] NM_002887 RARS EXON Missense_C638S exm502048 5 167990955 [A/G] NM_024594 PANK3 EXON Missense_R251C exm502054 5 167993067 [T/C] NM_024594 PANK3 EXON Missense_I196V exm502055 5 167993100 [T/G] NM_024594 PANK3 EXON Missense_L185M exm502086 5 168093556 [T/C] NM_001271946,NM_003062 SLIT3,SLIT3 EXON Missense_S1499N,Missense_S1492N exm2274112 5 168093595 [T/C] NM_001271946,NM_003062 SLIT3,SLIT3 EXON Missense_R1486H,Missense_R1479H exm2094654 5 168093596 [A/G] NM_001271946,NM_003062 SLIT3,SLIT3 EXON Missense_R1486C,Missense_R1479C exm502092 5 168093652 [T/C] NM_001271946,NM_003062 SLIT3,SLIT3 EXON Missense_R1467H,Missense_R1460H exm502093 5 168093653 [A/G] NM_001271946,NM_003062 SLIT3,SLIT3 EXON Missense_R1467C,Missense_R1460C exm502096 5 168093670 [A/C] NM_001271946,NM_003062 SLIT3,SLIT3 EXON Missense_V1461G,Missense_V1454G exm502097 5 168093673 [A/G] NM_001271946,NM_003062 SLIT3,SLIT3 EXON Missense_V1460A,Missense_V1453A exm502100 5 168096793 [T/C] NM_001271946,NM_003062 SLIT3,SLIT3 EXON Missense_Q1451R,Missense_Q1444R exm502102 5 168096806 [T/C] NM_001271946,NM_003062 SLIT3,SLIT3 EXON Missense_G1447S,Missense_G1440S exm502127 5 168098446 [A/G] NM_001271946,NM_003062 SLIT3,SLIT3 EXON Missense_T1302M,Missense_T1295M exm502135 5 168100281 [T/G] NM_001271946,NM_003062 SLIT3,SLIT3 EXON Missense_Q1255K,Missense_Q1248K exm502147 5 168112727 [T/C] NM_001271946,NM_003062 SLIT3,SLIT3 EXON Missense_A1181T,Missense_A1174T exm502148 5 168112742 [C/G] NM_001271946,NM_003062 SLIT3,SLIT3 EXON Missense_V1176L,Missense_V1169L exm502154 5 168112823 [T/G] NM_001271946,NM_003062 SLIT3,SLIT3 EXON Missense_T1149P,Missense_T1142P exm502156 5 168112868 [T/C] NM_001271946,NM_003062 SLIT3,SLIT3 EXON Missense_E1134K,Missense_E1127K exm502158 5 168112927 [C/G] NM_001271946,NM_003062 SLIT3,SLIT3 EXON Missense_P1114R,Missense_P1107R exm502161 5 168114030 [T/C] NM_001271946,NM_003062 SLIT3,SLIT3 EXON Missense_V1097M,Missense_V1090M exm502164 5 168114047 [T/C] NM_001271946,NM_003062 SLIT3,SLIT3 EXON Missense_R1091H,Missense_R1084H exm502170 5 168114108 [G/C] NM_001271946,NM_003062 SLIT3,SLIT3 EXON Missense_P1071A,Missense_P1064A exm502174 5 168123311 [A/G] NM_001271946,NM_003062 SLIT3,SLIT3 EXON Missense_P1030L,Missense_P1023L exm502176 5 168123324 [T/C] NM_001271946,NM_003062 SLIT3,SLIT3 EXON Missense_V1026M,Missense_V1019M exm502179 5 168123345 [T/C] NM_001271946,NM_003062 SLIT3,SLIT3 EXON Missense_V1019M,Missense_V1012M exm502187 5 168123398 [T/C] NM_001271946,NM_003062 SLIT3,SLIT3 EXON Missense_E1001G,Missense_E994G exm502194 5 168135012 [A/T] NM_001271946,NM_003062 SLIT3,SLIT3 EXON Missense_L945Q,Missense_L938Q exm502215 5 168139310 [T/C] NM_001271946,NM_003062 SLIT3,SLIT3 EXON Missense_D845N,Missense_D845N exm502220 5 168149298 [T/C] NM_001271946,NM_003062 SLIT3,SLIT3 EXON Missense_V816I,Missense_V816I exm502222 5 168149315 [T/C] NM_001271946,NM_003062 SLIT3,SLIT3 EXON Missense_R810Q,Missense_R810Q exm502227 5 168151427 [A/G] NM_001271946,NM_003062 SLIT3,SLIT3 EXON Missense_T778M,Missense_T778M exm-rs11743823 5 168164744 [T/C] NM_001271946,NM_003062 SLIT3,SLIT3 Silent,Silent exm502236 5 168175371 [T/C] NM_001271946,NM_003062 SLIT3,SLIT3 EXON Missense_V736M,Missense_V736M exm2266041 5 168176517 [A/G] NM_001271946,NM_003062 SLIT3,SLIT3 EXON Synonymous_I699I,Synonymous_I699I exm502252 5 168180047 [T/C] NM_001271946,NM_003062 SLIT3,SLIT3 EXON Missense_S629N,Missense_S629N exm502253 5 168180054 [T/C] NM_001271946,NM_003062 SLIT3,SLIT3 EXON Missense_G627S,Missense_G627S exm502257 5 168180081 [T/C] NM_001271946,NM_003062 SLIT3,SLIT3 EXON Missense_G618S,Missense_G618S exm502260 5 168180900 [T/C] NM_001271946,NM_003062 SLIT3,SLIT3 EXON Missense_V600M,Missense_V600M exm502271 5 168189635 [T/C] NM_001271946,NM_003062 SLIT3,SLIT3 EXON Missense_E507K,Missense_E507K exm502276 5 168189673 [G/C] NM_001271946,NM_003062 SLIT3,SLIT3 EXON Missense_R494T,Missense_R494T exm502302 5 168201265 [T/C] NM_001271946,NM_003062 SLIT3,SLIT3 EXON Missense_A424T,Missense_A424T exm2242183 5 168201351 [T/C] NM_001271946,NM_003062 SLIT3,SLIT3 EXON Missense_R395Q,Missense_R395Q exm502314 5 168212951 [A/G] NM_001271946,NM_003062 SLIT3,SLIT3 EXON Missense_V371A,Missense_V371A exm502323 5 168222582 [A/G] NM_001271946,NM_003062 SLIT3,SLIT3 EXON Missense_R313C,Missense_R313C exm502332 5 168233490 [A/G] NM_001271946,NM_003062 SLIT3,SLIT3 EXON Missense_M299T,Missense_M299T exm502342 5 168244337 [A/G] NM_001271946,NM_003062 SLIT3,SLIT3 EXON Missense_A254V,Missense_A254V exm502343 5 168244341 [T/C] NM_001271946,NM_003062 SLIT3,SLIT3 EXON Missense_V253M,Missense_V253M exm502350 5 168244406 [T/C] NM_001271946,NM_003062 SLIT3,SLIT3 EXON Missense_R231Q,Missense_R231Q exm-rs4282339 5 168256240 [A/G] NM_001271946,NM_003062 SLIT3,SLIT3 Silent,Silent exm502362 5 168271637 [T/C] NM_001271946,NM_003062 SLIT3,SLIT3 EXON Missense_S170N,Missense_S170N exm502369 5 168310295 [A/G] NM_001271946,NM_003062 SLIT3,SLIT3 EXON Missense_R154C,Missense_R154C exm2266140 5 168386194 [A/G] NM_001271946,NM_003062 SLIT3,SLIT3 Silent,Silent exm2270162 5 168571305 [T/C] NM_001271946,NM_003062 SLIT3,SLIT3 Silent,Silent exm502378 5 168671712 [T/C] NM_001271946,NM_003062 SLIT3,SLIT3 EXON Missense_R113Q,Missense_R113Q exm-rs13156607 5 168899987 [T/C] exm502408 5 169015433 [A/G] NM_017785 SPDL1 EXON Missense_I5V exm502409 5 169015442 [A/G] NM_017785 SPDL1 EXON Missense_N8D exm502411 5 169015458 [T/G] NM_017785 SPDL1 EXON Missense_L13R exm502415 5 169015479 [A/G] NM_017785 SPDL1 EXON Missense_R20Q exm502421 5 169018056 [A/G] NM_017785 SPDL1 EXON Missense_Y55C exm2242189 5 169018139 [A/G] NM_017785 SPDL1 EXON Missense_I83V exm502430 5 169020466 [T/C] NM_017785 SPDL1 EXON Missense_R149C exm502433 5 169020469 [A/G] NM_017785 SPDL1 EXON Missense_V150I exm502434 5 169020482 [T/G] NM_017785 SPDL1 EXON Missense_R154L exm502437 5 169020542 [A/G] NM_017785 SPDL1 EXON Missense_E174G exm502442 5 169021225 [T/G] NM_017785 SPDL1 EXON Missense_R203L exm502443 5 169021233 [A/G] NM_017785 SPDL1 EXON Missense_D206N exm502446 5 169021291 [T/C] NM_017785 SPDL1 EXON Missense_A225V exm2094801 5 169021621 [A/C] NM_017785 SPDL1 EXON Missense_K276T exm502455 5 169021672 [T/C] NM_017785 SPDL1 EXON Missense_M293T exm502457 5 169023563 [A/G] NM_017785 SPDL1 Silent exm502458 5 169023574 [T/G] NM_017785 SPDL1 EXON Missense_A301S exm502463 5 169023686 [A/G] NM_017785 SPDL1 EXON Missense_R338K exm502465 5 169025493 [G/C] NM_017785 SPDL1 EXON Missense_S349T exm502466 5 169025499 [T/A] NM_017785 SPDL1 EXON Missense_E351V exm502467 5 169025501 [T/C] NM_017785 SPDL1 EXON Missense_S352P exm502468 5 169025516 [A/G] NM_017785 SPDL1 EXON Missense_D357N exm502477 5 169026043 [T/C] NM_017785 SPDL1 EXON Missense_R402W exm502483 5 169028316 [A/C] NM_017785 SPDL1 EXON Missense_R453S exm502485 5 169028346 [A/G] NM_017785 SPDL1 EXON Missense_A463T exm502486 5 169028382 [A/G] NM_017785 SPDL1 EXON Missense_G475R exm502487 5 169028383 [A/G] NM_017785 SPDL1 EXON Missense_G475E exm2094812 5 169028397 [T/G] NM_017785 SPDL1 EXON Missense_L480V exm502489 5 169028401 [T/C] NM_017785 SPDL1 EXON Missense_P481L exm502491 5 169028404 [T/C] NM_017785 SPDL1 EXON Missense_P482L exm502494 5 169028481 [T/C] NM_017785 SPDL1 EXON Missense_Y508H exm502499 5 169028514 [A/T] NM_017785 SPDL1 EXON Missense_N519Y exm2242190 5 169031142 [T/G] NM_017785 SPDL1 EXON Missense_C583W exm502512 5 169031150 [T/C] NM_017785 SPDL1 EXON Missense_L586S exm-rs169082 5 169074056 [T/C] NM_004946 DOCK2 Silent exm2266042 5 169078934 [A/G] NM_004946 DOCK2 Silent exm502541 5 169111224 [A/G] NM_004946 DOCK2 EXON Missense_M211V exm502542 5 169111233 [T/C] NM_004946 DOCK2 EXON Missense_R214W exm502545 5 169111345 [T/C] NM_004946 DOCK2 EXON Missense_T251M exm502577 5 169129364 [A/G] NM_004946 DOCK2 EXON Missense_N439S exm502578 5 169129408 [A/G] NM_004946 DOCK2 EXON Missense_A454T exm502584 5 169135185 [A/G] NM_004946 DOCK2 EXON Missense_V466M exm502592 5 169139002 [T/C] NM_004946 DOCK2 EXON Missense_S516P exm502594 5 169139124 [A/C] NM_004946 DOCK2 EXON Missense_S519Y exm502596 5 169139162 [A/G] NM_004946 DOCK2 EXON Missense_V532M exm502597 5 169139171 [A/G] NM_004946 DOCK2 EXON Missense_M535V exm2270266 5 169178278 [T/C] NM_004946 DOCK2 Silent exm2242193 5 169230085 [A/G] NM_004946 DOCK2 EXON Missense_V860I exm502633 5 169230094 [A/G] NM_004946 DOCK2 EXON Missense_K863E exm502635 5 169230145 [A/C] NM_004946 DOCK2 EXON Missense_L880M exm502637 5 169230163 [A/G] NM_004946 DOCK2 EXON Missense_V886I exm502653 5 169309687 [A/G] NM_004946,NM_001129891 DOCK2,FAM196B EXON Silent,Missense_R406W exm502667 5 169310184 [T/C] NM_004946,NM_001129891 DOCK2,FAM196B EXON Silent,Missense_R240H exm502669 5 169310213 [A/C] NM_004946,NM_001129891 DOCK2,FAM196B EXON Silent,Missense_S230R exm502671 5 169310284 [A/C] NM_004946,NM_001129891 DOCK2,FAM196B EXON Silent,Missense_D207Y exm502674 5 169310407 [C/G] NM_004946,NM_001129891 DOCK2,FAM196B EXON Silent,Missense_V166L exm502683 5 169310737 [T/C] NM_004946,NM_001129891 DOCK2,FAM196B EXON Silent,Missense_V56I exm502684 5 169310757 [A/G] NM_004946,NM_001129891 DOCK2,FAM196B EXON Silent,Missense_T49I exm2266043 5 169335129 [A/G] NM_004946,NM_001129891 DOCK2,FAM196B Silent,Silent exm502693 5 169412872 [T/C] NM_004946 DOCK2 EXON Missense_I980T exm2257104 5 169423153 [T/G] NM_004946 DOCK2 EXON Synonymous_T1019T exm2094895 5 169435709 [A/G] NM_004946 DOCK2 EXON Missense_R1064Q exm502741 5 169469096 [T/C] NM_004946 DOCK2 EXON Missense_T1279M exm502752 5 169477266 [A/G] NM_004946 DOCK2 EXON Missense_V1360M exm502754 5 169477389 [T/G] NM_004946 DOCK2 EXON Missense_A1401S exm2242196 5 169504760 [A/G] NM_004946 DOCK2 EXON Missense_R1638H exm502789 5 169504802 [A/G] NM_004946 DOCK2 EXON Missense_N1652S exm502791 5 169504823 [C/G] NM_004946 DOCK2 EXON Missense_S1659T exm502793 5 169506008 [T/C] NM_004946 DOCK2 EXON Missense_T1675M exm2094943 5 169506011 [G/C] NM_004946 DOCK2 EXON Missense_P1676R exm2094944 5 169506032 [T/C] NM_004946 DOCK2 EXON Missense_P1683L exm502802 5 169506113 [T/C] NM_004946 DOCK2 EXON Missense_A1710V exm502805 5 169506149 [A/G] NM_004946 DOCK2 EXON Missense_R1722Q exm502815 5 169508882 [A/G] NM_004946 DOCK2 EXON Missense_D1775G exm2242197 5 169508893 [T/A] NM_004946 DOCK2 EXON Missense_T1779S exm502816 5 169508902 [T/C] NM_004946 DOCK2 EXON Missense_R1782C exm502820 5 169508935 [A/G] NM_004946 DOCK2 EXON Missense_G1793S exm502824 5 169508983 [A/G] NM_004946 DOCK2 EXON Missense_T1809A exm502827 5 169509815 [T/G] NM_004946 DOCK2 EXON Missense_A1816S exm502839 5 169533092 [T/C] NM_012188,NM_144769 FOXI1,FOXI1 EXON Missense_P44L,Missense_P44L exm502847 5 169533279 [C/G] NM_012188,NM_144769 FOXI1,FOXI1 EXON Missense_D106E,Missense_D106E exm502854 5 169533534 [A/G] NM_012188,NM_144769 FOXI1,FOXI1 EXON Synonymous_P191P,Synonymous_P191P exm502860 5 169535149 [T/C] NM_012188,NM_144769 FOXI1,FOXI1 EXON Missense_S224F,Silent exm502861 5 169535155 [T/C] NM_012188,NM_144769 FOXI1,FOXI1 EXON Missense_T226I,Silent exm502867 5 169535251 [A/G] NM_012188,NM_144769 FOXI1,FOXI1 EXON Missense_G258E,Silent exm502868 5 169535254 [A/G] NM_012188,NM_144769 FOXI1,FOXI1 EXON Missense_G259D,Silent exm502878 5 169535339 [G/C] NM_012188,NM_144769 FOXI1,FOXI1 EXON Synonymous_A287A,Synonymous_A192A exm502888 5 169535475 [A/G] NM_012188,NM_144769 FOXI1,FOXI1 EXON Missense_G333S,Missense_G238S exm502890 5 169535496 [C/G] NM_012188,NM_144769 FOXI1,FOXI1 EXON Missense_P340A,Missense_P245A exm502895 5 169535566 [T/G] NM_012188,NM_144769 FOXI1,FOXI1 EXON Missense_S363I,Missense_S268I exm502900 5 169661161 [A/C] NM_001102609 C5orf58 EXON Missense_L8I exm502904 5 169661994 [G/C] NM_001102609 C5orf58 EXON Missense_R26P exm2094972 5 169675703 [A/G] NM_005565 LCP2 EXON Missense_X534Q exm502912 5 169675739 [A/G] NM_005565 LCP2 EXON Missense_Y522H exm502920 5 169680139 [G/C] NM_005565 LCP2 EXON Missense_S410C exm502921 5 169680146 [T/G] NM_005565 LCP2 EXON Missense_P408T exm502923 5 169683574 [T/C] NM_005565 LCP2 EXON Missense_S369N exm-rs315717 5 169685163 [T/C] NM_005565 LCP2 EXON Synonymous_Q326Q exm502934 5 169688123 [C/G] NM_005565 LCP2 EXON Missense_D315E exm2094981 5 169688140 [T/G] NM_005565 LCP2 EXON Missense_H310N exm502941 5 169689699 [A/G] NM_005565 LCP2 EXON Missense_P289L exm2094986 5 169689861 [A/G] NM_005565 LCP2 EXON Missense_S268L exm502956 5 169694057 [T/C] NM_005565 LCP2 EXON Missense_N215S exm502989 5 169724551 [A/T] NM_005565 LCP2 EXON Missense_D22V exm502998 5 169780930 [A/G] NM_001034838 KCNIP1 EXON Missense_Q17R exm503012 5 169805857 [T/C] NM_001034838,NM_004137 KCNIP1,KCNMB1 EXON Silent,Missense_E143K exm503014 5 169805865 [T/C] NM_001034838,NM_004137 KCNIP1,KCNMB1 EXON Silent,Missense_R140Q exm503015 5 169805866 [A/G] NM_001034838,NM_004137 KCNIP1,KCNMB1 EXON Silent,Missense_R140W exm503021 5 169805947 [A/C] NM_001034838,NM_004137 KCNIP1,KCNMB1 EXON Silent,Missense_Y113D exm503022 5 169805956 [C/G] NM_001034838,NM_004137 KCNIP1,KCNMB1 EXON Silent,Missense_V110L exm503029 5 169810699 [T/C] NM_001034838,NM_004137 KCNIP1,KCNMB1 EXON Silent,Missense_R97Q exm503033 5 169810768 [T/C] NM_001034838,NM_004137 KCNIP1,KCNMB1 EXON Silent,Missense_Y74C exm503034 5 169810775 [T/G] NM_001034838,NM_004137 KCNIP1,KCNMB1 EXON Silent,Missense_P72T exm503036 5 169810796 [T/C] NM_001034838,NM_004137 KCNIP1,KCNMB1 EXON Silent,Missense_E65K exm503037 5 169810822 [A/G] NM_001034838,NM_004137 KCNIP1,KCNMB1 EXON Silent,Missense_I56T exm503040 5 169810853 [T/C] NM_001034838,NM_004137 KCNIP1,KCNMB1 EXON Silent,Missense_V46M exm503049 5 169812420 [T/C] NM_001034838,NM_004137 KCNIP1,KCNMB1 EXON Silent,Missense_R11Q exm503050 5 169812421 [A/G] NM_001034838,NM_004137 KCNIP1,KCNMB1 EXON Silent,Missense_R11W exm2266044 5 169865015 [A/G] NM_001034838 KCNIP1 Silent exm-rs11957313 5 169950394 [A/G] NM_001034838,NM_001034837,NM_014592 KCNIP1,KCNIP1,KCNIP1 Silent,Silent,Silent exm2266045 5 170095415 [A/G] NM_001034838,NM_001034837,NM_014592 KCNIP1,KCNIP1,KCNIP1 Silent,Silent,Silent exm503071 5 170148881 [T/A] NM_001034838,NM_001034837,NM_014592 KCNIP1,KCNIP1,KCNIP1 EXON Missense_T110S,Missense_T112S,Missense_T101S exm-rs2042314 5 170177580 [T/C] exm503096 5 170215647 [A/G] NM_014211 GABRP EXON Missense_V10M exm2274113 5 170215665 [A/G] NM_014211 GABRP EXON Missense_T16A exm503107 5 170216243 [A/G] NM_014211 GABRP EXON Missense_N55S exm503108 5 170216248 [T/G] NM_014211 GABRP EXON Missense_G57C exm503114 5 170222243 [A/G] NM_014211 GABRP EXON Missense_R91H exm503124 5 170222392 [T/C] NM_014211 GABRP EXON Missense_R141C exm503131 5 170224475 [T/C] NM_014211 GABRP EXON Missense_T155M exm2257107 5 170224530 [T/A] NM_014211 GABRP EXON Synonymous_T173T exm503139 5 170232777 [A/G] NM_014211 GABRP EXON Missense_R200H exm503149 5 170235729 [A/G] NM_014211 GABRP EXON Missense_D269N exm503150 5 170236616 [T/C] NM_014211 GABRP EXON Missense_R293C exm503154 5 170238967 [T/C] NM_014211 GABRP EXON Missense_T343I exm503157 5 170238985 [T/C] NM_014211 GABRP EXON Missense_V349A exm503158 5 170238988 [A/G] NM_014211 GABRP EXON Missense_S350N exm503159 5 170239065 [A/G] NM_014211 GABRP EXON Missense_D376N exm503163 5 170239112 [A/C] NM_014211 GABRP EXON Missense_F391L exm503176 5 170305138 [A/G] NM_022897 RANBP17 EXON Missense_Y19C exm503177 5 170305142 [A/G] NM_022897 RANBP17 EXON Missense_I20M exm503179 5 170305162 [G/C] NM_022897 RANBP17 EXON Missense_R27T exm503185 5 170319406 [A/G] NM_022897 RANBP17 EXON Missense_N91S exm503193 5 170323053 [A/G] NM_022897 RANBP17 Silent exm2095090 5 170323055 [A/G] NM_022897 RANBP17 EXON Missense_G142D exm503196 5 170336681 [G/C] NM_022897 RANBP17 EXON Missense_P169R exm503197 5 170336704 [A/G] NM_022897 RANBP17 EXON Missense_A177T exm503198 5 170336717 [A/G] NM_022897 RANBP17 EXON Missense_R181H exm503199 5 170336764 [A/G] NM_022897 RANBP17 EXON Missense_K197E exm503205 5 170338063 [A/G] NM_022897 RANBP17 EXON Missense_D229N exm503206 5 170338070 [T/C] NM_022897 RANBP17 EXON Missense_I231T exm503207 5 170338079 [C/G] NM_022897 RANBP17 EXON Nonsense_S234X exm503208 5 170338106 [A/G] NM_022897 RANBP17 EXON Missense_C243Y exm503216 5 170343529 [T/C] NM_022897 RANBP17 EXON Missense_R299C exm503218 5 170343584 [G/C] NM_022897 RANBP17 EXON Missense_P317R exm503227 5 170345819 [G/C] NM_022897 RANBP17 EXON Missense_E353Q exm503239 5 170351370 [A/T] NM_022897 RANBP17 EXON Missense_L428F exm503246 5 170380604 [A/G] NM_022897 RANBP17 EXON Missense_R491H exm2270268 5 170458958 [T/C] NM_022897 RANBP17 Silent exm503268 5 170610234 [A/G] NM_022897 RANBP17 EXON Synonymous_T643T exm503273 5 170610353 [A/G] NM_022897 RANBP17 EXON Missense_S653G exm2095120 5 170610387 [A/G] NM_022897 RANBP17 EXON Missense_R664Q exm503277 5 170610413 [T/C] NM_022897 RANBP17 EXON Missense_R673C exm503286 5 170632540 [A/G] NM_022897 RANBP17 EXON Missense_G719R exm503294 5 170640676 [A/G] NM_022897 RANBP17 EXON Missense_R758Q exm2095130 5 170640683 [T/G] NM_022897 RANBP17 EXON Nonsense_Y760X exm503298 5 170640694 [T/C] NM_022897 RANBP17 EXON Missense_T764I exm503306 5 170648770 [A/G] NM_022897 RANBP17 EXON Missense_R783H exm503312 5 170667982 [A/G] NM_022897 RANBP17 EXON Missense_M825V exm503313 5 170667987 [A/C] NM_022897 RANBP17 EXON Missense_K826N exm503316 5 170668064 [A/C] NM_022897 RANBP17 EXON Missense_K852T exm503317 5 170668091 [A/G] NM_022897 RANBP17 EXON Missense_N861S exm503319 5 170669692 [T/C] NM_022897 RANBP17 EXON Missense_R882W exm503325 5 170669784 [G/C] NM_022897 RANBP17 EXON Missense_M912I exm503327 5 170669803 [T/C] NM_022897 RANBP17 EXON Missense_S919P exm503332 5 170692729 [A/G] NM_022897 RANBP17 EXON Missense_V941I exm2095143 5 170692818 [T/A] NM_022897 RANBP17 EXON Missense_H970Q exm503343 5 170720930 [A/G] NM_022897 RANBP17 EXON Missense_R996Q exm503346 5 170722982 [A/G] NM_022897 RANBP17 EXON Missense_G1045E exm503349 5 170725801 [T/G] NM_022897 RANBP17 EXON Missense_V1069G exm2095149 5 170725816 [A/G] NM_022897 RANBP17 EXON Missense_R1074H exm503357 5 170736466 [T/C] NM_021025 TLX3 EXON Missense_P33S exm503367 5 170736622 [T/G] NM_021025 TLX3 EXON Missense_A85S exm503380 5 170738454 [A/C] NM_021025 TLX3 EXON Missense_L243M exm503385 5 170738580 [T/C] NM_021025 TLX3 EXON Missense_P285S exm2095157 5 170738586 [G/C] NM_021025 TLX3 EXON Missense_V287L exm503398 5 170818427 [T/C] NM_001037738,NM_002520,NM_199185 NPM1,NPM1,NPM1 EXON Missense_T86M,Missense_T86M,Missense_T86M exm2266046 5 170838791 [A/G] exm503451 5 170863173 [A/G] NM_003862 FGF18 EXON Missense_R49H exm-rs254893 5 171076227 [A/G] exm2264139 5 171274885 [A/C] exm-rs4868125 5 171281875 [C/G] exm2257110 5 171303382 [T/C] NM_033645,NM_033644,NM_012300 FBXW11,FBXW11,FBXW11 EXON Synonymous_L321L,Synonymous_L342L,Synonymous_L355L exm503510 5 171384675 [T/C] NM_033645,NM_033644,NM_012300 FBXW11,FBXW11,FBXW11 EXON Silent,Silent,Missense_G25S exm2266141 5 171468278 [A/G] exm503522 5 171471953 [T/C] NM_005990 STK10 EXON Missense_C947Y exm2095238 5 171471979 [T/G] NM_005990 STK10 EXON Missense_F938L exm503533 5 171479958 [T/C] NM_005990 STK10 EXON Missense_R914Q exm503534 5 171479985 [G/C] NM_005990 STK10 EXON Missense_S905T exm503547 5 171481667 [A/G] NM_005990 STK10 EXON Missense_S853L exm503553 5 171482707 [A/G] NM_005990 STK10 EXON Missense_A804V exm503554 5 171482726 [A/G] NM_005990 STK10 EXON Missense_R798W exm503562 5 171484475 [A/G] NM_005990 STK10 EXON Missense_R739W exm503565 5 171488220 [T/C] NM_005990 STK10 EXON Missense_R712K exm503578 5 171509379 [T/C] NM_005990 STK10 EXON Missense_D647G exm503580 5 171509391 [T/C] NM_005990 STK10 EXON Missense_R643H exm503584 5 171509416 [A/G] NM_005990 STK10 EXON Missense_R635C exm503589 5 171509487 [A/G] NM_005990 STK10 EXON Missense_T611M exm503592 5 171509966 [T/G] NM_005990 STK10 EXON Missense_N603T exm503602 5 171517362 [A/G] NM_005990 STK10 EXON Missense_P520L exm503608 5 171520532 [A/G] NM_005990 STK10 EXON Missense_P480S exm503615 5 171520790 [C/G] NM_005990 STK10 EXON Missense_P394A exm503616 5 171520792 [A/G] NM_005990 STK10 EXON Missense_P393L exm503629 5 171523430 [A/G] NM_005990 STK10 EXON Synonymous_S335S exm503635 5 171523470 [T/C] NM_005990 STK10 EXON Missense_R322Q exm503641 5 171532674 [T/C] NM_005990 STK10 EXON Missense_A286T exm503645 5 171532728 [A/G] NM_005990 STK10 EXON Missense_R268C exm503655 5 171533739 [T/C] NM_005990 STK10 EXON Missense_I225V exm503677 5 171554395 [T/C] NM_005990 STK10 EXON Missense_V118M exm503680 5 171554418 [A/G] NM_005990 STK10 EXON Missense_I110T exm503697 5 171614971 [T/C] NM_005990 STK10 EXON Missense_V26I exm503701 5 171621214 [A/G] NM_001171183 EFCAB9 EXON Missense_Y13C exm503708 5 171627649 [T/C] NM_001171183 EFCAB9 EXON Missense_I122T exm503721 5 171638968 [T/C] NM_152277 UBTD2 EXON Missense_S191G exm503727 5 171639152 [T/C] NM_152277 UBTD2 EXON Missense_M129I exm503734 5 171710619 [A/C] NM_152277 UBTD2 EXON Missense_E17D exm2257112 5 171764665 [T/C] NM_001017995 SH3PXD2B EXON Silent exm503740 5 171765450 [A/C] NM_001017995 SH3PXD2B EXON Missense_W887G exm503745 5 171765540 [A/C] NM_001017995 SH3PXD2B EXON Missense_A857S exm503747 5 171765565 [T/G] NM_001017995 SH3PXD2B EXON Missense_D848E exm503755 5 171765711 [T/C] NM_001017995 SH3PXD2B EXON Missense_V800I exm503764 5 171765879 [A/G] NM_001017995 SH3PXD2B EXON Missense_P744S exm503765 5 171765882 [T/C] NM_001017995 SH3PXD2B EXON Missense_V743M exm503769 5 171765984 [T/C] NM_001017995 SH3PXD2B EXON Missense_A709T exm503776 5 171766154 [A/G] NM_001017995 SH3PXD2B EXON Missense_T652M exm503786 5 171766397 [A/G] NM_001017995 SH3PXD2B EXON Missense_P571L exm503813 5 171766706 [T/C] NM_001017995 SH3PXD2B EXON Missense_R468Q exm503818 5 171766766 [T/C] NM_001017995 SH3PXD2B EXON Missense_R448Q exm503831 5 171773187 [T/C] NM_001017995 SH3PXD2B EXON Missense_T381A exm503848 5 171777382 [T/C] NM_001017995 SH3PXD2B EXON Missense_G333S exm503851 5 171777393 [A/G] NM_001017995 SH3PXD2B EXON Missense_P329L exm503858 5 171777525 [A/G] NM_001017995 SH3PXD2B EXON Missense_P285L exm503861 5 171777565 [T/C] NM_001017995 SH3PXD2B EXON Missense_A272T exm2095346 5 171785861 [T/C] NM_001017995 SH3PXD2B EXON Missense_A195T exm503880 5 171789873 [A/C] NM_001017995 SH3PXD2B EXON Missense_G143V exm503891 5 171821614 [A/G] NM_001017995 SH3PXD2B EXON Missense_R88W exm503902 5 171881298 [A/C] NM_001017995 SH3PXD2B EXON Missense_V20G exm2257113 5 172092620 [T/C] NM_001142651 NEURL1B Silent exm503919 5 172195811 [A/G] NM_004417 DUSP1 EXON Missense_A353V exm503943 5 172196752 [A/G] NM_004417 DUSP1 EXON Missense_Y187H exm503957 5 172197790 [T/C] NM_004417 DUSP1 EXON Missense_A56T exm503958 5 172197798 [A/C] NM_004417 DUSP1 EXON Missense_R53L exm504017 5 172351026 [A/G] NM_001031711 ERGIC1 EXON Missense_V132M exm2257114 5 172359509 [T/G] NM_001031711 ERGIC1 EXON Synonymous_R204R exm504025 5 172362200 [A/G] NM_001031711 ERGIC1 EXON Missense_A218T exm504038 5 172377742 [A/G] NM_001031711 ERGIC1 EXON Missense_V266I exm2264159 5 172392747 [A/C] NM_016093 RPL26L1 Silent exm504053 5 172395465 [A/G] NM_016093 RPL26L1 EXON Missense_V58I exm504055 5 172395482 [A/C] NM_016093 RPL26L1 EXON Missense_K63N exm504061 5 172395582 [A/G] NM_016093 RPL26L1 EXON Missense_V97M exm504065 5 172396450 [A/G] NM_016093 RPL26L1 EXON Missense_R115Q exm-rs251253 5 172480336 [T/C] exm504104 5 172517368 [T/G] NM_001168394,NM_001168393,NM_153607 CREBRF,CREBRF,CREBRF EXON Missense_L62F,Missense_L62F,Missense_L62F exm504125 5 172518171 [A/G] NM_001168394,NM_001168393,NM_153607 CREBRF,CREBRF,CREBRF EXON Missense_Q330R,Missense_Q330R,Missense_Q330R exm504140 5 172535671 [A/G] NM_153607 CREBRF EXON Missense_I423V exm504141 5 172535680 [T/C] NM_153607 CREBRF EXON Missense_R426W exm504154 5 172550204 [T/C] NM_153607 CREBRF EXON Synonymous_L601L exm504162 5 172571590 [A/C] NM_001205,NM_013978,NM_013980,NM_013979 BNIP1,BNIP1,BNIP1,BNIP1 EXON Missense_Q14H,Missense_Q14H,Missense_Q14H,Missense_Q14H exm504176 5 172578572 [A/G] NM_001205,NM_013978,NM_013980,NM_013979 BNIP1,BNIP1,BNIP1,BNIP1 EXON Silent,Silent,Missense_V61I,Missense_V61I exm504179 5 172578656 [A/C] NM_001205,NM_013978,NM_013980,NM_013979 BNIP1,BNIP1,BNIP1,BNIP1 EXON Silent,Silent,Missense_Q89K,Missense_Q89K exm2095454 5 172590824 [A/G] NM_001205,NM_013978,NM_013980,NM_013979 BNIP1,BNIP1,BNIP1,BNIP1 EXON Missense_R196H,Missense_R162H,Missense_R205H,Missense_R239H exm504235 5 172660192 [A/C] NM_004387,NM_001166175,NM_001166176 NKX2-5,NKX2-5,NKX2-5 EXON Missense_A119S,Silent,Silent exm504238 5 172660374 [T/C] NM_004387,NM_001166175,NM_001166176 NKX2-5,NKX2-5,NKX2-5 EXON Silent,Silent,Missense_R143Q exm504244 5 172662014 [A/G] NM_004387,NM_001166175,NM_001166176 NKX2-5,NKX2-5,NKX2-5 EXON Missense_R25C,Missense_R25C,Missense_R25C exm504247 5 172662026 [C/G] NM_004387,NM_001166175,NM_001166176 NKX2-5,NKX2-5,NKX2-5 EXON Missense_E21Q,Missense_E21Q,Missense_E21Q exm-rs9313625 5 172690224 [A/C] exm2270165 5 172737199 [T/C] exm504249 5 172744882 [T/C] NM_003714 STC2 EXON Missense_E293K exm504259 5 172744989 [C/G] NM_003714 STC2 EXON Missense_G257A exm504278 5 172750223 [T/C] NM_003714 STC2 EXON Missense_E169K exm504282 5 172750267 [T/C] NM_003714 STC2 EXON Missense_R154Q exm504294 5 172752907 [A/C] NM_003714 STC2 EXON Missense_M86I exm504300 5 172753012 [T/C] NM_003714 STC2 EXON Synonymous_A51A exm504301 5 172753013 [A/G] NM_003714 STC2 EXON Missense_A51V exm504302 5 172755066 [A/C] NM_003714 STC2 EXON Missense_R44L exm2095480 5 172755147 [A/G] NM_003714 STC2 EXON Missense_A17V exm2095482 5 172755187 [C/G] NM_003714 STC2 EXON Missense_E4Q exm-rs889014 5 172984114 [T/C] exm2270166 5 173003451 [T/C] exm2242224 5 173034149 [T/C] NM_138369,NM_001159651 BOD1,BOD1 EXON Silent,Silent exm2273415 5 173034989 [T/C] NM_138369,NM_001159651 BOD1,BOD1 EXON Silent,Silent exm2242225 5 173035270 [A/T] NM_138369,NM_001159651 BOD1,BOD1 EXON Silent,Missense_X130K exm504313 5 173035291 [A/G] NM_138369,NM_001159651 BOD1,BOD1 EXON Silent,Missense_R123C exm2261883 5 173182811 [T/C] exm-rs359457 5 173279842 [T/C] exm-rs10052344 5 173297883 [A/G] exm504343 5 173317137 [A/G] NM_030627 CPEB4 EXON Missense_R134K exm504345 5 173317206 [A/C] NM_030627 CPEB4 EXON Missense_P157H exm504359 5 173317826 [A/G] NM_030627 CPEB4 EXON Missense_S364G exm504363 5 173359456 [A/G] NM_030627 CPEB4 EXON Missense_R404H exm-rs6861681 5 173362458 [A/G] NM_030627 CPEB4 Silent exm504395 5 173416324 [T/C] NM_001144954 C5orf47 EXON Missense_R20C exm504409 5 173426709 [T/G] NM_001144954 C5orf47 EXON Missense_V140L exm504442 5 173534458 [C/G] NM_015980 HMP19 EXON Missense_A156P exm504443 5 173534486 [T/C] NM_015980 HMP19 EXON Missense_P165L exm2264140 5 173637603 [A/C] exm2261884 5 173642871 [T/C] exm-rs10475598 5 173648438 [T/C] exm2266047 5 174083046 [A/G] exm504447 5 174151670 [T/C] NM_002449 MSX2 EXON Missense_S3F exm504458 5 174156168 [T/C] NM_002449 MSX2 EXON Missense_M129T exm2270167 5 174465590 [T/C] exm2270271 5 174485598 [T/G] exm504474 5 174868775 [T/C] NM_000794 DRD1 EXON Missense_Q443R exm504483 5 174869045 [A/G] NM_000794 DRD1 EXON Missense_A353V exm2257120 5 174869278 [T/C] NM_000794 DRD1 EXON Synonymous_S275S exm504494 5 174869327 [T/G] NM_000794 DRD1 EXON Missense_S259Y exm504514 5 174870072 [T/C] NM_000794 DRD1 EXON Missense_G11R exm2257121 5 174897200 [T/C] exm504520 5 174919171 [T/C] NM_022754 SFXN1 EXON Missense_I22T exm504522 5 174919183 [A/G] NM_022754 SFXN1 EXON Missense_N26S exm504530 5 174919243 [A/G] NM_022754 SFXN1 EXON Missense_S46N exm504537 5 174936099 [T/G] NM_022754 SFXN1 EXON Missense_S77A exm504542 5 174937120 [T/C] NM_022754 SFXN1 EXON Missense_P115L exm504544 5 174937164 [A/G] NM_022754 SFXN1 EXON Missense_V130I exm504563 5 174940525 [T/C] NM_022754 SFXN1 EXON Missense_A219V exm504569 5 174948943 [T/C] NM_022754 SFXN1 EXON Missense_P266S exm504578 5 174953709 [A/G] NM_022754 SFXN1 EXON Missense_R314Q exm504579 5 174953712 [A/G] NM_022754 SFXN1 EXON Missense_R315H exm504595 5 175110408 [A/G] NM_001131055,NM_022304 HRH2,HRH2 EXON Missense_V58M,Missense_V58M exm504610 5 175111033 [A/G] NM_001131055,NM_022304 HRH2,HRH2 EXON Missense_N266S,Missense_N266S exm2266142 5 175176876 [A/G] exm-rs2382123 5 175244408 [A/G] NM_006650 CPLX2 Silent exm2266048 5 175312710 [A/G] exm2274114 5 175740713 [A/G] NM_198567 SIMC1 EXON Missense_R151Q exm2095633 5 175740782 [A/G] NM_198567 SIMC1 EXON Missense_R174Q exm504822 5 175740814 [A/G] NM_198567 SIMC1 EXON Missense_V185M exm504831 5 175751669 [A/G] NM_198567 SIMC1 EXON Missense_V260I exm504852 5 175772312 [A/G] NM_198567 SIMC1 EXON Missense_R413H exm504854 5 175772341 [A/G] NM_198567 SIMC1 EXON Missense_V423I exm504860 5 175772440 [A/G] NM_198567 SIMC1 EXON Missense_G456S exm2242235 5 175774656 [T/C] NM_001079685,NM_020444,NM_001079684 KIAA1191,KIAA1191,KIAA1191 EXON Missense_A289T,Missense_A289T,Missense_A270T exm504870 5 175774737 [A/G] NM_001079685,NM_020444,NM_001079684 KIAA1191,KIAA1191,KIAA1191 EXON Nonsense_R262X,Nonsense_R262X,Nonsense_R243X exm504876 5 175774925 [A/C] NM_001079685,NM_020444,NM_001079684 KIAA1191,KIAA1191,KIAA1191 EXON Synonymous_S236S,Synonymous_S236S,Synonymous_S217S exm2257124 5 175782697 [A/G] NM_001079685,NM_020444,NM_001079684 KIAA1191,KIAA1191,KIAA1191 EXON Synonymous_R28R,Synonymous_R28R,Synonymous_R9R exm504902 5 175782737 [A/G] NM_001079685,NM_020444,NM_001079684 KIAA1191,KIAA1191,KIAA1191 EXON Missense_A15V,Missense_A15V,Silent exm504903 5 175782744 [A/C] NM_001079685,NM_020444,NM_001079684 KIAA1191,KIAA1191,KIAA1191 EXON Missense_A13S,Missense_A13S,Silent exm504919 5 175793395 [A/G] NM_173664 ARL10 EXON Missense_E66K exm504935 5 175798734 [A/G] NM_173664 ARL10 EXON Missense_E191K exm504936 5 175798736 [C/G] NM_173664 ARL10 EXON Missense_E191D exm504937 5 175798746 [A/G] NM_173664 ARL10 EXON Missense_M195V exm504940 5 175798794 [T/C] NM_173664 ARL10 EXON Missense_R211W exm504942 5 175798831 [T/C] NM_173664 ARL10 EXON Missense_A223V exm504946 5 175811233 [T/C] NM_001256540,NM_001256539,NM_016391 NOP16,NOP16,NOP16 EXON Missense_D149N,Missense_D150N,Synonymous_X179X exm504956 5 175811362 [T/C] NM_001256540,NM_001256539,NM_016391 NOP16,NOP16,NOP16 EXON Silent,Silent,Missense_D136G exm504959 5 175812257 [A/G] NM_001256540,NM_001256539,NM_016391 NOP16,NOP16,NOP16 EXON Missense_R120C,Missense_R120C,Missense_R120C exm504966 5 175815300 [T/C] NM_001256540,NM_001256539,NM_016391 NOP16,NOP16,NOP16 EXON Missense_Q51R,Missense_Q51R,Missense_Q51R exm505005 5 175824615 [T/C] NM_007097,NR_045724,NM_001834 CLTB,CLTB,CLTB EXON Missense_N153D,Silent,Missense_N153D exm505008 5 175824647 [T/C] NM_007097,NR_045724,NM_001834 CLTB,CLTB,CLTB EXON Missense_R142H,Silent,Missense_R142H exm2095731 5 175926031 [A/G] NM_014613 FAF2 EXON Missense_R319Q exm505066 5 175926081 [T/C] NM_014613 FAF2 EXON Missense_R336W exm2257125 5 175956310 [T/C] NM_014901 RNF44 EXON Synonymous_K405K exm505100 5 175956761 [T/C] NM_014901 RNF44 EXON Missense_V329M exm505113 5 175957644 [A/G] NM_014901 RNF44 EXON Missense_P247L exm505122 5 175957893 [A/G] NM_014901 RNF44 EXON Missense_P199S exm505136 5 175958540 [G/C] NM_014901 RNF44 EXON Missense_C130S exm505145 5 175959106 [A/G] NM_014901 RNF44 EXON Missense_P66S exm505158 5 175959412 [T/C] NM_014901 RNF44 EXON Missense_R21Q exm505168 5 175992370 [T/C] NM_001171976,NM_017675 CDHR2,CDHR2 EXON Missense_L6P,Missense_L6P exm505170 5 175992396 [A/G] NM_001171976,NM_017675 CDHR2,CDHR2 EXON Missense_V15M,Missense_V15M exm505178 5 175995711 [A/C] NM_001171976,NM_017675 CDHR2,CDHR2 EXON Missense_Q53K,Missense_Q53K exm2095793 5 175995815 [A/C] NM_001171976,NM_017675 CDHR2,CDHR2 EXON Nonsense_Y87X,Nonsense_Y87X exm505189 5 175995985 [A/G] NM_001171976,NM_017675 CDHR2,CDHR2 EXON Missense_I97V,Missense_I97V exm505191 5 175995992 [T/C] NM_001171976,NM_017675 CDHR2,CDHR2 EXON Missense_V99A,Missense_V99A exm2095797 5 175998259 [A/G] NM_001171976,NM_017675 CDHR2,CDHR2 EXON Missense_A121T,Missense_A121T exm505199 5 175998265 [A/G] NM_001171976,NM_017675 CDHR2,CDHR2 EXON Missense_V123I,Missense_V123I exm505200 5 175998280 [A/G] NM_001171976,NM_017675 CDHR2,CDHR2 EXON Missense_A128T,Missense_A128T exm505215 5 176002295 [A/G] NM_001171976,NM_017675 CDHR2,CDHR2 EXON Missense_M212I,Missense_M212I exm505218 5 176002383 [T/G] NM_001171976,NM_017675 CDHR2,CDHR2 EXON Missense_V242F,Missense_V242F exm505224 5 176002580 [T/C] NM_001171976,NM_017675 CDHR2,CDHR2 EXON Missense_S281F,Missense_S281F exm505227 5 176002734 [A/G] NM_001171976,NM_017675 CDHR2,CDHR2 EXON Missense_R285Q,Missense_R285Q exm505230 5 176002770 [T/G] NM_001171976,NM_017675 CDHR2,CDHR2 EXON Missense_I297S,Missense_I297S exm505234 5 176002794 [A/G] NM_001171976,NM_017675 CDHR2,CDHR2 EXON Missense_R305H,Missense_R305H exm505243 5 176003058 [T/G] NM_001171976,NM_017675 CDHR2,CDHR2 EXON Missense_C356G,Missense_C356G exm505244 5 176003088 [A/G] NM_001171976,NM_017675 CDHR2,CDHR2 EXON Missense_E366K,Missense_E366K exm505245 5 176003093 [C/G] NM_001171976,NM_017675 CDHR2,CDHR2 EXON Missense_E367D,Missense_E367D exm505255 5 176004401 [A/G] NM_001171976,NM_017675 CDHR2,CDHR2 EXON Missense_G399D,Missense_G399D exm505261 5 176004476 [T/C] NM_001171976,NM_017675 CDHR2,CDHR2 EXON Missense_V424A,Missense_V424A exm505270 5 176004656 [A/G] NM_001171976,NM_017675 CDHR2,CDHR2 EXON Missense_V457I,Missense_V457I exm505272 5 176004680 [A/C] NM_001171976,NM_017675 CDHR2,CDHR2 EXON Missense_M465L,Missense_M465L exm505275 5 176004723 [T/C] NM_001171976,NM_017675 CDHR2,CDHR2 EXON Missense_T479M,Missense_T479M exm505277 5 176004799 [T/C] NM_001171976,NM_017675 CDHR2,CDHR2 EXON Synonymous_H504H,Synonymous_H504H exm505285 5 176005418 [A/G] NM_001171976,NM_017675 CDHR2,CDHR2 EXON Missense_G543S,Missense_G543S exm505286 5 176005443 [A/G] NM_001171976,NM_017675 CDHR2,CDHR2 EXON Missense_Q551R,Missense_Q551R exm505292 5 176005481 [A/G] NM_001171976,NM_017675 CDHR2,CDHR2 EXON Missense_G564R,Missense_G564R exm505301 5 176008380 [T/C] NM_001171976,NM_017675 CDHR2,CDHR2 EXON Missense_R619C,Missense_R619C exm2095837 5 176008503 [T/C] NM_001171976,NM_017675 CDHR2,CDHR2 EXON Missense_R660C,Missense_R660C exm2242243 5 176008504 [A/G] NM_001171976,NM_017675 CDHR2,CDHR2 EXON Missense_R660H,Missense_R660H exm505313 5 176008539 [A/G] NM_001171976,NM_017675 CDHR2,CDHR2 EXON Missense_E672K,Missense_E672K exm505316 5 176011198 [A/G] NM_001171976,NM_017675 CDHR2,CDHR2 EXON Missense_N689S,Missense_N689S exm505321 5 176011444 [T/C] NM_001171976,NM_017675 CDHR2,CDHR2 EXON Missense_A721V,Missense_A721V exm2095854 5 176011515 [T/C] NM_001171976,NM_017675 CDHR2,CDHR2 EXON Nonsense_R745X,Nonsense_R745X exm505326 5 176011516 [A/G] NM_001171976,NM_017675 CDHR2,CDHR2 EXON Missense_R745Q,Missense_R745Q exm505328 5 176011557 [T/C] NM_001171976,NM_017675 CDHR2,CDHR2 EXON Missense_R759W,Missense_R759W exm505329 5 176011558 [A/G] NM_001171976,NM_017675 CDHR2,CDHR2 EXON Missense_R759Q,Missense_R759Q exm505332 5 176011579 [T/C] NM_001171976,NM_017675 CDHR2,CDHR2 EXON Missense_L766P,Missense_L766P exm505334 5 176011599 [A/G] NM_001171976,NM_017675 CDHR2,CDHR2 EXON Missense_V773I,Missense_V773I exm505338 5 176011644 [T/G] NM_001171976,NM_017675 CDHR2,CDHR2 EXON Missense_G788C,Missense_G788C exm505339 5 176011647 [A/G] NM_001171976,NM_017675 CDHR2,CDHR2 EXON Missense_E789K,Missense_E789K exm505340 5 176011662 [A/G] NM_001171976,NM_017675 CDHR2,CDHR2 EXON Missense_V794I,Missense_V794I exm505346 5 176011731 [T/C] NM_001171976,NM_017675 CDHR2,CDHR2 EXON Missense_R817C,Missense_R817C exm2242245 5 176011783 [T/C] NM_001171976,NM_017675 CDHR2,CDHR2 EXON Missense_S834L,Missense_S834L exm505349 5 176011800 [A/G] NM_001171976,NM_017675 CDHR2,CDHR2 EXON Missense_A840T,Missense_A840T exm2095858 5 176011851 [A/G] NM_001171976,NM_017675 CDHR2,CDHR2 EXON Missense_D857N,Missense_D857N exm505361 5 176011968 [A/G] NM_001171976,NM_017675 CDHR2,CDHR2 EXON Missense_A896T,Missense_A896T exm505362 5 176011984 [T/C] NM_001171976,NM_017675 CDHR2,CDHR2 EXON Missense_T901M,Missense_T901M exm505374 5 176013811 [A/G] NM_001171976,NM_017675 CDHR2,CDHR2 EXON Missense_V942M,Missense_V942M exm505376 5 176013823 [T/C] NM_001171976,NM_017675 CDHR2,CDHR2 EXON Missense_R946W,Missense_R946W exm2242247 5 176013829 [A/G] NM_001171976,NM_017675 CDHR2,CDHR2 EXON Missense_V948M,Missense_V948M exm505393 5 176016607 [A/G] NM_001171976,NM_017675 CDHR2,CDHR2 EXON Missense_A1066T,Missense_A1066T exm505396 5 176016618 [A/G] NM_001171976,NM_017675 CDHR2,CDHR2 Silent,Silent exm505406 5 176017452 [T/C] NM_001171976,NM_017675 CDHR2,CDHR2 EXON Missense_L1127P,Missense_L1127P exm2242248 5 176017575 [C/G] NM_001171976,NM_017675 CDHR2,CDHR2 EXON Missense_E1142D,Missense_E1142D exm505413 5 176017639 [A/C] NM_001171976,NM_017675 CDHR2,CDHR2 EXON Missense_L1164M,Missense_L1164M exm505415 5 176017672 [A/G] NM_001171976,NM_017675 CDHR2,CDHR2 EXON Missense_V1175M,Missense_V1175M exm505432 5 176022584 [A/G] NM_001171976,NM_017675 CDHR2,CDHR2 EXON Missense_V1282M,Missense_V1282M exm505447 5 176023984 [C/G] NM_052899 GPRIN1 EXON Missense_R951P exm505451 5 176024119 [A/G] NM_052899 GPRIN1 EXON Missense_P906L exm505466 5 176025070 [T/C] NM_052899 GPRIN1 EXON Missense_K589R exm505467 5 176025077 [A/C] NM_052899 GPRIN1 EXON Missense_S587A exm505471 5 176025148 [C/G] NM_052899 GPRIN1 EXON Missense_P563R exm505473 5 176025163 [T/C] NM_052899 GPRIN1 EXON Missense_K558R exm505474 5 176025191 [T/C] NM_052899 GPRIN1 EXON Missense_G549S exm505477 5 176025232 [G/C] NM_052899 GPRIN1 EXON Missense_A535G exm505478 5 176025245 [T/C] NM_052899 GPRIN1 EXON Missense_A531T exm505482 5 176025287 [T/C] NM_052899 GPRIN1 EXON Missense_G517R exm505486 5 176025334 [T/C] NM_052899 GPRIN1 EXON Missense_G501E exm505490 5 176025463 [A/G] NM_052899 GPRIN1 EXON Missense_P458L exm505492 5 176025487 [G/C] NM_052899 GPRIN1 EXON Missense_T450S exm505494 5 176025515 [C/G] NM_052899 GPRIN1 EXON Missense_E441Q exm505501 5 176025700 [T/G] NM_052899 GPRIN1 EXON Missense_P379H exm505505 5 176025761 [T/C] NM_052899 GPRIN1 EXON Missense_G359R exm505506 5 176025767 [A/G] NM_052899 GPRIN1 EXON Missense_S357P exm505508 5 176025791 [A/G] NM_052899 GPRIN1 EXON Missense_C349R exm505509 5 176025826 [C/G] NM_052899 GPRIN1 EXON Missense_G337A exm505514 5 176025905 [T/C] NM_052899 GPRIN1 EXON Missense_G311R exm505516 5 176025938 [T/C] NM_052899 GPRIN1 EXON Missense_M300V exm505521 5 176026006 [A/G] NM_052899 GPRIN1 EXON Missense_S277F exm505549 5 176026315 [A/G] NM_052899 GPRIN1 EXON Missense_S174L exm505553 5 176026384 [T/C] NM_052899 GPRIN1 EXON Missense_E151G exm505556 5 176026475 [T/G] NM_052899 GPRIN1 EXON Missense_P121T exm505561 5 176026580 [A/C] NM_052899 GPRIN1 EXON Missense_G86C exm2270169 5 176030090 [T/C] NM_052899 GPRIN1 Silent exm505578 5 176048219 [T/G] NM_001001502,NM_003085 SNCB,SNCB EXON Missense_P123H,Missense_P123H exm505596 5 176070122 [A/G] NM_001099408 EIF4E1B EXON Missense_E19K exm505597 5 176070128 [A/G] NM_001099408 EIF4E1B EXON Missense_K21E exm2257126 5 176070154 [A/G] NM_001099408 EIF4E1B EXON Synonymous_T29T exm505601 5 176070216 [A/G] NM_001099408 EIF4E1B EXON Missense_R50Q exm505616 5 176072210 [A/G] NM_001099408 EIF4E1B EXON Missense_R147H exm505619 5 176072243 [T/C] NM_001099408 EIF4E1B EXON Missense_T158M exm505627 5 176072513 [A/G] NM_001099408 EIF4E1B EXON Missense_V204I exm505628 5 176072518 [T/G] NM_001099408 EIF4E1B Silent exm505629 5 176072868 [T/C] NM_001099408 EIF4E1B EXON Missense_R206C exm505654 5 176079877 [T/C] NM_130465,NM_001006616,NM_012171 TSPAN17,TSPAN17,TSPAN17 EXON Missense_I140T,Missense_I140T,Missense_I140T exm505655 5 176079914 [T/C] NM_130465,NM_001006616,NM_012171 TSPAN17,TSPAN17,TSPAN17 EXON Synonymous_Y152Y,Synonymous_Y152Y,Synonymous_Y152Y exm505660 5 176081924 [A/G] NM_130465,NM_001006616,NM_012171 TSPAN17,TSPAN17,TSPAN17 EXON Missense_N162S,Missense_N162S,Missense_N162S exm505668 5 176083112 [A/G] NM_130465,NM_001006616,NM_012171 TSPAN17,TSPAN17,TSPAN17 EXON Missense_V206I,Missense_V206I,Missense_V206I exm2095984 5 176083899 [T/G] NM_130465,NM_001006616,NM_012171 TSPAN17,TSPAN17,TSPAN17 EXON Missense_F251V,Missense_F251V,Missense_F254V exm505681 5 176084557 [T/C] NM_130465,NM_001006616,NM_012171 TSPAN17,TSPAN17,TSPAN17 EXON Missense_T283M,Silent,Missense_T286M exm505688 5 176084626 [T/C] NM_130465,NM_001006616,NM_012171 TSPAN17,TSPAN17,TSPAN17 EXON Missense_P306L,Silent,Missense_P309L exm2257127 5 176133680 [A/G] exm2266143 5 176255646 [A/G] NM_133369 UNC5A Silent exm2096000 5 176295624 [A/G] NM_133369 UNC5A EXON Missense_V167M exm505721 5 176295848 [T/C] NM_133369 UNC5A EXON Missense_R202W exm505730 5 176297464 [T/G] NM_133369 UNC5A EXON Missense_R272L exm505756 5 176304225 [T/C] NM_133369 UNC5A EXON Missense_P471S exm505766 5 176304670 [A/G] NM_133369 UNC5A EXON Missense_R534H exm505771 5 176304920 [T/C] NM_133369 UNC5A EXON Missense_A554V exm505774 5 176304967 [A/G] NM_133369 UNC5A EXON Missense_V570I exm505790 5 176305543 [A/G] NM_133369 UNC5A EXON Missense_R696H exm505802 5 176306443 [T/C] NM_133369 UNC5A EXON Missense_R773W exm505805 5 176306491 [T/G] NM_133369 UNC5A Silent exm505818 5 176308081 [T/C] NM_002115 HK3 EXON Missense_R922H exm505823 5 176308136 [T/C] NM_002115 HK3 EXON Missense_G904S exm505827 5 176308175 [A/G] NM_002115 HK3 EXON Missense_R891C exm2096050 5 176308201 [A/G] NM_002115 HK3 EXON Missense_A882V exm505831 5 176308303 [T/C] NM_002115 HK3 EXON Missense_R876H exm505832 5 176308308 [G/C] NM_002115 HK3 EXON Missense_H874Q exm505836 5 176308367 [A/G] NM_002115 HK3 EXON Missense_R855W exm505854 5 176308695 [T/G] NM_002115 HK3 EXON Missense_E797D exm505867 5 176308831 [T/C] NM_002115 HK3 EXON Missense_S752N exm505874 5 176308984 [C/G] NM_002115 HK3 EXON Missense_A733G exm505879 5 176309017 [T/C] NM_002115 HK3 EXON Missense_G722D exm505881 5 176309059 [T/C] NM_002115 HK3 EXON Missense_R708H exm505884 5 176309092 [T/C] NM_002115 HK3 EXON Missense_R697Q exm505885 5 176309105 [T/G] NM_002115 HK3 EXON Missense_M693L exm505891 5 176310795 [A/G] NM_002115 HK3 EXON Missense_R677C exm505893 5 176310798 [A/G] NM_002115 HK3 EXON Missense_P676S exm505897 5 176310806 [T/C] NM_002115 HK3 EXON Missense_Y673C exm2276913 5 176311090 [A/C] NM_002115 HK3 EXON Nonsense_E635X exm505910 5 176314060 [C/G] NM_002115 HK3 EXON Missense_Q600H exm505918 5 176314206 [T/C] NM_002115 HK3 EXON Missense_Q578R exm505922 5 176314293 [T/C] NM_002115 HK3 EXON Missense_R549H exm505935 5 176314560 [T/C] NM_002115 HK3 EXON Missense_A498T exm2257128 5 176314561 [A/C] NM_002115 HK3 EXON Synonymous_L497L exm505940 5 176314610 [T/C] NM_002115 HK3 EXON Missense_R481H exm505941 5 176314611 [A/G] NM_002115 HK3 EXON Missense_R481C exm505950 5 176314688 [A/C] NM_002115 HK3 EXON Nonsense_L455X exm505964 5 176315469 [T/C] NM_002115 HK3 EXON Missense_A390T exm505965 5 176315501 [A/G] NM_002115 HK3 EXON Missense_S379L exm505981 5 176316395 [A/G] NM_002115 HK3 EXON Missense_P301S exm505982 5 176316425 [A/C] NM_002115 HK3 EXON Missense_D291Y exm505987 5 176316461 [T/C] NM_002115 HK3 EXON Missense_D279N exm505992 5 176316497 [A/G] NM_002115 HK3 EXON Missense_R267C exm505997 5 176316559 [T/C] NM_002115 HK3 EXON Missense_G246D exm506000 5 176316669 [A/G] NM_002115 HK3 EXON Missense_P236L exm506006 5 176317646 [T/C] NM_002115 HK3 EXON Missense_R207Q exm2275840 5 176317699 [C/G] NM_002115 HK3 EXON Missense_R189S exm506011 5 176317824 [G/C] NM_002115 HK3 EXON Missense_R178T exm506014 5 176317836 [A/G] NM_002115 HK3 EXON Missense_T174M exm2096118 5 176318142 [A/G] NM_002115 HK3 EXON Missense_R104C exm2096119 5 176318150 [A/G] NM_002115 HK3 EXON Missense_A101V exm506022 5 176318162 [T/C] NM_002115 HK3 EXON Missense_G97E exm506027 5 176318404 [T/A] NM_002115 HK3 EXON Missense_T82S exm506029 5 176318430 [T/C] NM_002115 HK3 EXON Missense_R73Q exm506034 5 176318466 [A/G] NM_002115 HK3 EXON Missense_A61V exm506036 5 176318488 [T/G] NM_002115 HK3 EXON Missense_L54I exm506050 5 176332321 [A/G] NM_016290,NM_001199297,NM_001199298 UIMC1,UIMC1,UIMC1 EXON Missense_R708W,Missense_R708W,Missense_R708W exm506052 5 176332332 [C/G] NM_016290,NM_001199297,NM_001199298 UIMC1,UIMC1,UIMC1 EXON Missense_G704A,Missense_G704A,Missense_G704A exm506057 5 176332431 [T/C] NM_016290,NM_001199297,NM_001199298 UIMC1,UIMC1,UIMC1 EXON Missense_R671H,Missense_R671H,Missense_R671H exm506058 5 176332446 [T/G] NM_016290,NM_001199297,NM_001199298 UIMC1,UIMC1,UIMC1 EXON Missense_Q666P,Missense_Q666P,Missense_Q666P exm506070 5 176335565 [T/C] NM_016290,NM_001199297,NM_001199298 UIMC1,UIMC1,UIMC1 EXON Missense_T603A,Missense_T603A,Missense_T603A exm506074 5 176335616 [A/C] NM_016290,NM_001199297,NM_001199298 UIMC1,UIMC1,UIMC1 EXON Missense_A586S,Missense_A586S,Missense_A586S exm506079 5 176335682 [A/G] NM_016290,NM_001199297,NM_001199298 UIMC1,UIMC1,UIMC1 EXON Missense_Y564H,Missense_Y564H,Missense_Y564H exm506093 5 176370402 [A/G] NM_016290,NM_001199297,NM_001199298 UIMC1,UIMC1,UIMC1 EXON Missense_C511R,Missense_C511R,Missense_C511R exm506109 5 176385154 [A/G] NM_016290,NM_001199297,NM_001199298 UIMC1,UIMC1,UIMC1 EXON Missense_S401F,Missense_S401F,Missense_S401F exm506110 5 176395618 [A/G] NM_016290,NM_001199297,NM_001199298 UIMC1,UIMC1,UIMC1 EXON Missense_S380P,Missense_S380P,Missense_S380P exm506111 5 176395629 [A/G] NM_016290,NM_001199297,NM_001199298 UIMC1,UIMC1,UIMC1 EXON Missense_F376S,Missense_F376S,Missense_F376S exm506115 5 176395698 [A/G] NM_016290,NM_001199297,NM_001199298 UIMC1,UIMC1,UIMC1 EXON Missense_M353T,Missense_M353T,Missense_M353T exm2242261 5 176396611 [A/G] NM_016290,NM_001199297,NM_001199298 UIMC1,UIMC1,UIMC1 EXON Missense_L152F,Missense_L152F,Missense_L152F exm506140 5 176396640 [T/G] NM_016290,NM_001199297,NM_001199298 UIMC1,UIMC1,UIMC1 EXON Missense_S142Y,Missense_S142Y,Missense_S142Y exm2274115 5 176396668 [A/G] NM_016290,NM_001199297,NM_001199298 UIMC1,UIMC1,UIMC1 EXON Missense_P133S,Missense_P133S,Missense_P133S exm506142 5 176396683 [T/C] NM_016290,NM_001199297,NM_001199298 UIMC1,UIMC1,UIMC1 EXON Missense_A128T,Missense_A128T,Missense_A128T exm506149 5 176402450 [A/G] NM_016290,NM_001199297,NM_001199298 UIMC1,UIMC1,UIMC1 EXON Missense_T60M,Missense_T60M,Missense_T60M exm506151 5 176409502 [T/C] NM_016290,NM_001199297,NM_001199298 UIMC1,UIMC1,UIMC1 EXON Missense_A39T,Missense_A39T,Missense_A39T exm506155 5 176409574 [A/G] NM_016290,NM_001199297,NM_001199298 UIMC1,UIMC1,UIMC1 EXON Missense_R15W,Missense_R15W,Missense_R15W exm506159 5 176409624 [T/C] NM_016290,NM_001199297,NM_001199298 UIMC1,UIMC1,UIMC1 EXON Silent,Silent,Silent exm506172 5 176468810 [A/T] NM_012279 ZNF346 EXON Missense_Y104F exm506182 5 176477835 [G/C] NM_012279 ZNF346 EXON Missense_Q201E exm506193 5 176491539 [T/G] NM_012279 ZNF346 EXON Missense_L275R exm2242263 5 176491589 [T/G] NM_012279 ZNF346 EXON Missense_L292V exm506202 5 176516631 [A/G] NM_002011,NM_213647,NM_022963 FGFR4,FGFR4,FGFR4 EXON Missense_V10I,Missense_V10I,Missense_V10I exm-rs422421 5 176517326 [T/C] NM_002011,NM_213647,NM_022963 FGFR4,FGFR4,FGFR4 Silent,Silent,Silent exm506220 5 176517532 [A/G] NM_002011,NM_213647,NM_022963 FGFR4,FGFR4,FGFR4 EXON Missense_R78H,Missense_R78H,Missense_R78H exm506225 5 176517769 [G/C] NM_002011,NM_213647,NM_022963 FGFR4,FGFR4,FGFR4 EXON Missense_D127H,Missense_D127H,Missense_D127H exm506226 5 176517797 [T/C] NM_002011,NM_213647,NM_022963 FGFR4,FGFR4,FGFR4 EXON Missense_P136L,Missense_P136L,Missense_P136L exm506235 5 176518050 [A/G] NM_002011,NM_213647,NM_022963 FGFR4,FGFR4,FGFR4 EXON Missense_R183H,Missense_R183H,Missense_R183H exm506252 5 176519690 [A/G] NM_002011,NM_213647,NM_022963 FGFR4,FGFR4,FGFR4 EXON Missense_R321Q,Missense_R321Q,Missense_R321Q exm506256 5 176519710 [A/G] NM_002011,NM_213647,NM_022963 FGFR4,FGFR4,FGFR4 EXON Missense_A328T,Missense_A328T,Missense_A328T exm506270 5 176520243 [A/G] NM_002011,NM_213647,NM_022963 FGFR4,FGFR4,FGFR4 EXON Missense_G388R,Missense_G388R,Silent exm506277 5 176520442 [A/C] NM_002011,NM_213647,NM_022963 FGFR4,FGFR4,FGFR4 EXON Missense_S429R,Missense_S429R,Missense_S389R exm506279 5 176520455 [C/G] NM_002011,NM_213647,NM_022963 FGFR4,FGFR4,FGFR4 EXON Missense_R434G,Missense_R434G,Missense_R394G exm506281 5 176520465 [A/G] NM_002011,NM_213647,NM_022963 FGFR4,FGFR4,FGFR4 EXON Missense_R437H,Missense_R437H,Missense_R397H exm506313 5 176522675 [T/C] NM_002011,NM_213647,NM_022963 FGFR4,FGFR4,FGFR4 EXON Missense_S591F,Missense_S591F,Missense_S551F exm506349 5 176524306 [T/C] NM_002011,NM_213647,NM_022963 FGFR4,FGFR4,FGFR4 EXON Missense_R723C,Missense_R723C,Missense_R683C exm506350 5 176524307 [A/G] NM_002011,NM_213647,NM_022963 FGFR4,FGFR4,FGFR4 EXON Missense_R723H,Missense_R723H,Missense_R683H exm506357 5 176524540 [T/C] NM_002011,NM_213647,NM_022963 FGFR4,FGFR4,FGFR4 EXON Missense_R758C,Missense_R758C,Missense_R718C exm506361 5 176524573 [A/G] NM_002011,NM_213647,NM_022963 FGFR4,FGFR4,FGFR4 EXON Missense_G769R,Missense_G769R,Missense_G729R exm506362 5 176524627 [A/C] NM_002011,NM_213647,NM_022963 FGFR4,FGFR4,FGFR4 EXON Missense_L787M,Missense_L787M,Missense_L747M exm-rs11954311 5 176554850 [A/G] exm506368 5 176562176 [T/C] NM_172349,NM_022455 NSD1,NSD1 EXON Missense_P2L,Synonymous_A24A exm506377 5 176562394 [T/C] NM_172349,NM_022455 NSD1,NSD1 EXON Silent,Missense_F97S exm506391 5 176562864 [T/C] NM_172349,NM_022455 NSD1,NSD1 EXON Silent,Missense_L254F exm506394 5 176562920 [A/C] NM_172349,NM_022455 NSD1,NSD1 EXON Silent,Missense_N272K exm506408 5 176636764 [T/C] NM_172349,NM_022455 NSD1,NSD1 EXON Missense_M186T,Missense_M455T exm506412 5 176636878 [T/C] NM_172349,NM_022455 NSD1,NSD1 EXON Missense_P224L,Missense_P493L exm506418 5 176636974 [A/G] NM_172349,NM_022455 NSD1,NSD1 EXON Missense_R256Q,Missense_R525Q exm506424 5 176637090 [T/G] NM_172349,NM_022455 NSD1,NSD1 EXON Missense_A295S,Missense_A564S exm506431 5 176637211 [T/G] NM_172349,NM_022455 NSD1,NSD1 EXON Missense_R335L,Missense_R604L exm506434 5 176637240 [T/G] NM_172349,NM_022455 NSD1,NSD1 EXON Missense_V345L,Missense_V614L exm506438 5 176637471 [A/G] NM_172349,NM_022455 NSD1,NSD1 EXON Missense_A422T,Missense_A691T exm506442 5 176637576 [T/C] NM_172349,NM_022455 NSD1,NSD1 EXON Missense_S457P,Missense_S726P exm506448 5 176637739 [T/C] NM_172349,NM_022455 NSD1,NSD1 EXON Missense_S511L,Missense_S780L exm506456 5 176637850 [T/C] NM_172349,NM_022455 NSD1,NSD1 EXON Missense_S548F,Missense_S817F exm506473 5 176638368 [A/G] NM_172349,NM_022455 NSD1,NSD1 EXON Missense_E721K,Missense_E990K exm506474 5 176638370 [T/G] NM_172349,NM_022455 NSD1,NSD1 EXON Missense_E721D,Missense_E990D exm506481 5 176638489 [T/C] NM_172349,NM_022455 NSD1,NSD1 EXON Missense_L761S,Missense_L1030S exm506482 5 176638490 [T/G] NM_172349,NM_022455 NSD1,NSD1 EXON Missense_L761F,Missense_L1030F exm506488 5 176638551 [A/G] NM_172349,NM_022455 NSD1,NSD1 EXON Missense_E782K,Missense_E1051K exm2096263 5 176638587 [A/G] NM_172349,NM_022455 NSD1,NSD1 EXON Missense_T794A,Missense_T1063A exm506492 5 176638615 [A/G] NM_172349,NM_022455 NSD1,NSD1 EXON Missense_R803Q,Missense_R1072Q exm506494 5 176638671 [A/C] NM_172349,NM_022455 NSD1,NSD1 EXON Missense_L822I,Missense_L1091I exm2242272 5 176638692 [A/G] NM_172349,NM_022455 NSD1,NSD1 EXON Missense_T829A,Missense_T1098A exm506498 5 176638789 [A/G] NM_172349,NM_022455 NSD1,NSD1 EXON Missense_E861G,Missense_E1130G exm506507 5 176638964 [C/G] NM_172349,NM_022455 NSD1,NSD1 EXON Missense_R919S,Missense_R1188S exm506510 5 176639092 [A/G] NM_172349,NM_022455 NSD1,NSD1 EXON Missense_G962E,Missense_G1231E exm506513 5 176639122 [C/G] NM_172349,NM_022455 NSD1,NSD1 EXON Missense_S972T,Missense_S1241T exm2096280 5 176675193 [A/G] NM_172349,NM_022455 NSD1,NSD1 EXON Missense_M1234I,Missense_M1503I exm506531 5 176675204 [T/C] NM_172349,NM_022455 NSD1,NSD1 EXON Missense_T1238M,Missense_T1507M exm506543 5 176684078 [A/G] NM_172349,NM_022455 NSD1,NSD1 EXON Missense_K1362R,Missense_K1631R exm506576 5 176721119 [A/G] NM_172349,NM_022455 NSD1,NSD1 EXON Missense_M1981I,Missense_M2250I exm506577 5 176721151 [T/C] NM_172349,NM_022455 NSD1,NSD1 EXON Missense_M1992T,Missense_M2261T exm506584 5 176721394 [T/C] NM_172349,NM_022455 NSD1,NSD1 EXON Missense_S2073L,Missense_S2342L exm506592 5 176721721 [A/G] NM_172349,NM_022455 NSD1,NSD1 EXON Missense_R2182K,Missense_R2451K exm506602 5 176722005 [A/G] NM_172349,NM_022455 NSD1,NSD1 EXON Missense_A2277T,Missense_A2546T exm506610 5 176722219 [T/C] NM_172349,NM_022455 NSD1,NSD1 EXON Missense_L2348S,Missense_L2617S exm2096313 5 176722440 [A/G] NM_172349,NM_022455 NSD1,NSD1 EXON Missense_A2422T,Missense_A2691T exm506633 5 176728947 [T/C] NM_130781,NM_001031677 RAB24,RAB24 EXON Missense_A176T,Missense_A176T exm506657 5 176730190 [A/C] NM_130781,NM_001031677 RAB24,RAB24 EXON Missense_V34L,Missense_V34L exm506667 5 176731648 [T/A] NM_013237,NM_001271828 PRELID1,PRELID1 EXON Missense_I39L,Missense_I39L exm506689 5 176734179 [T/C] NM_001142935 MXD3 EXON Missense_G175R exm506699 5 176734647 [T/C] NM_001142935,NM_031300 MXD3,MXD3 EXON Silent,Missense_R188Q exm506700 5 176734648 [A/G] NM_001142935,NM_031300 MXD3,MXD3 EXON Silent,Missense_R188W exm506701 5 176734657 [T/C] NM_001142935,NM_031300 MXD3,MXD3 EXON Silent,Missense_E185K exm506716 5 176734892 [T/C] NM_001142935,NM_031300 MXD3,MXD3 EXON Missense_R132Q,Missense_R132Q exm506727 5 176737524 [T/C] NM_001142935,NM_031300 MXD3,MXD3 EXON Missense_R75Q,Missense_R75Q exm506733 5 176738464 [T/G] NM_001142935,NM_031300 MXD3,MXD3 EXON Missense_S31Y,Missense_S31Y exm506746 5 176759170 [T/C] NM_006816 LMAN2 EXON Missense_A330T exm506757 5 176761336 [T/C] NM_006816 LMAN2 EXON Missense_I287V exm506773 5 176764378 [A/G] NM_006816 LMAN2 EXON Missense_R221W exm506775 5 176764411 [T/C] NM_006816 LMAN2 EXON Missense_D210N exm506790 5 176765522 [T/C] NM_006816 LMAN2 EXON Missense_A134T exm2257130 5 176765604 [T/C] NM_006816 LMAN2 EXON Synonymous_P106P exm506799 5 176778271 [A/G] NM_006816 LMAN2 EXON Missense_P73L exm506800 5 176778275 [T/C] NM_006816 LMAN2 EXON Missense_M72V exm506806 5 176778533 [A/G] NM_006816 LMAN2 EXON Missense_L39S exm506808 5 176778555 [A/G] NM_006816 LMAN2 EXON Missense_P32S exm506811 5 176778602 [T/C] NM_006816 LMAN2 EXON Missense_C16Y exm506825 5 176793319 [A/G] NM_006480 RGS14 EXON Missense_R70Q exm506855 5 176795163 [A/G] NM_006480 RGS14 EXON Missense_G249S exm506860 5 176795725 [A/G] NM_006480 RGS14 EXON Missense_R286Q exm506862 5 176795796 [A/G] NM_006480 RGS14 EXON Missense_D310N exm506870 5 176797655 [A/G] NM_006480 RGS14 EXON Missense_I373V exm506890 5 176798895 [A/G] NM_006480 RGS14 EXON Missense_R507Q exm506892 5 176798918 [A/G] NM_006480 RGS14 EXON Missense_D515N exm506896 5 176798996 [A/G] NM_006480 RGS14 EXON Missense_E541K exm506898 5 176799029 [T/C] NM_006480 RGS14 EXON Nonsense_Q552X exm506910 5 176812770 [T/G] NM_003052,NM_001167579 SLC34A1,SLC34A1 EXON Missense_S10A,Missense_S10A exm506913 5 176812816 [A/G] NM_003052,NM_001167579 SLC34A1,SLC34A1 EXON Missense_R25Q,Missense_R25Q exm506920 5 176813101 [T/C] NM_003052,NM_001167579 SLC34A1,SLC34A1 EXON Missense_P75S,Missense_P75S exm506926 5 176813234 [T/G] NM_003052,NM_001167579 SLC34A1,SLC34A1 EXON Missense_V91G,Missense_V91G exm506927 5 176813236 [C/G] NM_003052,NM_001167579 SLC34A1,SLC34A1 EXON Missense_P92A,Missense_P92A exm506929 5 176813246 [A/G] NM_003052,NM_001167579 SLC34A1,SLC34A1 EXON Missense_R95H,Missense_R95H exm506935 5 176813433 [T/C] NM_003052,NM_001167579 SLC34A1,SLC34A1 EXON Missense_A133V,Missense_A133V exm506936 5 176813450 [T/G] NM_003052,NM_001167579 SLC34A1,SLC34A1 EXON Missense_D139Y,Missense_D139Y exm506952 5 176814875 [A/G] NM_003052,NM_001167579 SLC34A1,SLC34A1 Silent,Silent exm506955 5 176815003 [T/C] NM_003052,NM_001167579 SLC34A1,SLC34A1 EXON Missense_A218V,Missense_A218V exm506961 5 176815079 [A/C] NM_003052,NM_001167579 SLC34A1,SLC34A1 EXON Nonsense_Y243X,Nonsense_Y243X exm506964 5 176815132 [A/G] NM_003052,NM_001167579 SLC34A1,SLC34A1 EXON Missense_R261H,Missense_R261H exm-rs6420094 5 176817636 [A/G] NM_003052 SLC34A1 Silent exm506979 5 176821194 [T/C] NM_003052 SLC34A1 EXON Missense_T391M exm506987 5 176824007 [A/G] NM_003052 SLC34A1 EXON Missense_G450S exm507000 5 176824850 [T/C] NM_003052 SLC34A1 EXON Missense_R495C exm507006 5 176824913 [A/G] NM_003052 SLC34A1 EXON Missense_V516I exm507013 5 176825067 [A/G] NM_003052 SLC34A1 EXON Missense_G567E exm507014 5 176825069 [T/C] NM_003052 SLC34A1 EXON Missense_H568Y exm507017 5 176825091 [T/C] NM_003052 SLC34A1 EXON Missense_T575I exm507019 5 176825150 [T/C] NM_003052 SLC34A1 EXON Missense_R595C exm507054 5 176829405 [A/G] NM_000505 F12 EXON Missense_T579I exm507055 5 176829461 [T/C] NM_000505 F12 Silent exm507066 5 176830527 [A/G] NM_000505 F12 EXON Missense_R448C exm2266144 5 176830627 [A/G] NM_000505 F12 Silent exm507079 5 176831083 [C/G] NM_000505 F12 EXON Missense_A343P exm507080 5 176831085 [A/G] NM_000505 F12 EXON Missense_P342L exm507106 5 176832362 [T/A] NM_000505 F12 EXON Missense_L120H exm507116 5 176832999 [T/C] NM_000505 F12 EXON Missense_K60R exm507117 5 176833015 [A/G] NM_000505 F12 EXON Missense_R55W exm507118 5 176833025 [T/G] NM_000505 F12 EXON Missense_F51L exm507121 5 176836047 [T/C] NM_000505 F12 EXON Missense_V39I exm507126 5 176836477 [A/G] NM_000505 F12 EXON Missense_L18F exm-rs2731672 5 176842474 [T/C] exm2096529 5 176859310 [A/C] NM_001004105,NM_001004106,NM_002082 GRK6,GRK6,GRK6 EXON Missense_T113K,Missense_T113K,Missense_T113K exm507162 5 176859735 [A/G] NM_001004105,NM_001004106,NM_002082 GRK6,GRK6,GRK6 EXON Missense_R123Q,Missense_R123Q,Missense_R123Q exm507163 5 176859762 [A/G] NM_001004105,NM_001004106,NM_002082 GRK6,GRK6,GRK6 EXON Missense_R132Q,Missense_R132Q,Missense_R132Q exm507179 5 176860948 [A/G] NM_001004105,NM_001004106,NM_002082 GRK6,GRK6,GRK6 EXON Missense_A258T,Missense_A258T,Missense_A258T exm507191 5 176862065 [A/G] NM_001004105,NM_001004106,NM_002082 GRK6,GRK6,GRK6 EXON Missense_V334M,Missense_V334M,Missense_V334M exm507194 5 176862077 [A/G] NM_001004105,NM_001004106,NM_002082 GRK6,GRK6,GRK6 EXON Missense_E338K,Missense_E338K,Missense_E338K exm507207 5 176863154 [A/G] NM_001004105,NM_001004106,NM_002082 GRK6,GRK6,GRK6 EXON Missense_A380T,Missense_A380T,Missense_A380T exm507219 5 176863247 [T/C] NM_001004105,NM_001004106,NM_002082 GRK6,GRK6,GRK6 EXON Missense_R411C,Missense_R411C,Missense_R411C exm507226 5 176863514 [T/C] NM_001004105,NM_001004106,NM_002082 GRK6,GRK6,GRK6 EXON Missense_P463S,Missense_P463S,Missense_P463S exm507238 5 176868054 [A/G] NM_001004105,NM_001004106,NM_002082,NR_038916,NR_038915 GRK6,GRK6,GRK6,PRR7-AS1,PRR7-AS1 EXON Synonymous_Q559Q,Synonymous_Q559Q,Synonymous_Q559Q,Silent,Silent exm507243 5 176868758 [T/C] NM_001004106,NM_002082,NR_038916,NR_038915 GRK6,GRK6,PRR7-AS1,PRR7-AS1 EXON Synonymous_S566S,Missense_A567V,Silent,Silent exm507244 5 176868764 [T/C] NM_001004106,NM_002082,NR_038916,NR_038915 GRK6,GRK6,PRR7-AS1,PRR7-AS1 EXON Synonymous_S568S,Missense_A569V,Silent,Silent exm507249 5 176868784 [A/G] NM_001004106,NM_002082,NR_038916,NR_038915 GRK6,GRK6,PRR7-AS1,PRR7-AS1 EXON Missense_R575H,Missense_A576T,Silent,Silent exm507250 5 176868824 [A/G] NM_001004106,NM_002082,NR_038916,NR_038915 GRK6,GRK6,PRR7-AS1,PRR7-AS1 EXON Silent,Missense_R589Q,Silent,Silent exm2270170 5 176870700 [T/C] NR_038916,NR_038915 PRR7-AS1,PRR7-AS1 Silent,Silent exm507284 5 176885145 [A/C] NM_080881,NM_004395 DBN1,DBN1 EXON Missense_S566A,Missense_S564A exm507286 5 176885178 [A/G] NM_080881,NM_004395 DBN1,DBN1 EXON Missense_S555P,Missense_S553P exm2096578 5 176885285 [A/G] NM_080881,NM_004395 DBN1,DBN1 EXON Missense_P519L,Missense_P517L exm507294 5 176885388 [T/C] NM_080881,NM_004395 DBN1,DBN1 EXON Missense_G485R,Missense_G483R exm507297 5 176885421 [T/C] NM_080881,NM_004395 DBN1,DBN1 EXON Missense_A474T,Missense_A472T exm507300 5 176885499 [T/C] NM_080881,NM_004395 DBN1,DBN1 EXON Missense_I448V,Missense_I446V exm507301 5 176885504 [A/G] NM_080881,NM_004395 DBN1,DBN1 EXON Missense_T446M,Missense_T444M exm507313 5 176886119 [A/G] NM_080881,NM_004395 DBN1,DBN1 EXON Missense_P371L,Missense_P369L exm507320 5 176886179 [A/G] NM_080881,NM_004395 DBN1,DBN1 EXON Missense_A351V,Missense_A349V exm507325 5 176886219 [A/G] NM_080881,NM_004395 DBN1,DBN1 EXON Missense_R338W,Missense_R336W exm507333 5 176887456 [A/G] NM_080881,NM_004395 DBN1,DBN1 EXON Missense_P313L,Missense_P311L exm507338 5 176893778 [T/C] NM_080881,NM_004395 DBN1,DBN1 EXON Missense_I258V,Missense_I256V exm507383 5 176899148 [G/C] NM_080881,NM_004395 DBN1,DBN1 EXON Missense_R22G,Silent exm507399 5 176911101 [T/C] NM_005451,NM_203352 PDLIM7,PDLIM7 EXON Missense_M381V,Missense_M347V exm507400 5 176911109 [A/G] NM_005451,NM_203352 PDLIM7,PDLIM7 EXON Missense_A378V,Missense_A344V exm507401 5 176911119 [A/G] NM_005451,NM_203352 PDLIM7,PDLIM7 EXON Missense_R375W,Missense_R341W exm507415 5 176915121 [T/C] NM_005451,NM_203352 PDLIM7,PDLIM7 EXON Missense_Y333C,Missense_Y299C exm507416 5 176915143 [T/C] NM_005451,NM_203352 PDLIM7,PDLIM7 EXON Missense_A326T,Missense_A292T exm507422 5 176915244 [T/C] NM_005451,NM_203352 PDLIM7,PDLIM7 EXON Missense_R292H,Missense_R258H exm507423 5 176915249 [T/C] NM_005451,NM_203352 PDLIM7,PDLIM7 EXON Synonymous_R290R,Synonymous_R256R exm507424 5 176916403 [T/C] NM_005451,NM_203352 PDLIM7,PDLIM7 EXON Missense_K287R,Missense_K253R exm507426 5 176916428 [T/G] NM_005451,NM_203352 PDLIM7,PDLIM7 EXON Missense_T279P,Missense_T245P exm507428 5 176916464 [C/G] NM_005451,NM_203352 PDLIM7,PDLIM7 EXON Missense_G267R,Missense_G233R exm507437 5 176916556 [A/G] NM_005451,NM_203352 PDLIM7,PDLIM7 EXON Missense_P236L,Missense_P202L exm2242285 5 176916620 [T/C] NM_005451,NM_203352 PDLIM7,PDLIM7 EXON Missense_A215T,Missense_A181T exm507465 5 176918029 [A/G] NM_005451,NM_203352,NM_213636 PDLIM7,PDLIM7,PDLIM7 EXON Missense_L173F,Missense_L139F,Missense_L173F exm507474 5 176918107 [A/G] NM_005451,NM_203352,NM_213636 PDLIM7,PDLIM7,PDLIM7 EXON Missense_R147W,Missense_R113W,Missense_R147W exm507502 5 176919527 [G/C] NM_005451,NM_203352,NM_213636 PDLIM7,PDLIM7,PDLIM7 EXON Missense_R83T,Missense_R83T,Missense_R83T exm507509 5 176919607 [C/G] NM_005451,NM_203352,NM_213636 PDLIM7,PDLIM7,PDLIM7 EXON Missense_E56D,Missense_E56D,Missense_E56D exm507513 5 176919656 [A/G] NM_005451,NM_203352,NM_213636 PDLIM7,PDLIM7,PDLIM7 EXON Missense_A40V,Missense_A40V,Missense_A40V exm507521 5 176930113 [T/C] NM_001144875,NM_001144876 DOK3,DOK3 EXON Missense_Q309R,Missense_Q207R exm507524 5 176930131 [A/G] NM_001144875,NM_001144876 DOK3,DOK3 EXON Missense_T303M,Missense_T201M exm507525 5 176930135 [A/G] NM_001144875,NM_001144876 DOK3,DOK3 EXON Missense_R302C,Missense_R200C exm507526 5 176930140 [T/C] NM_001144875,NM_001144876 DOK3,DOK3 EXON Missense_Q300R,Missense_Q198R exm507527 5 176930206 [T/C] NM_001144875,NM_001144876 DOK3,DOK3 EXON Missense_S278N,Missense_S176N exm2257131 5 176931248 [T/C] NM_001144875,NM_001144876,NM_024872 DOK3,DOK3,DOK3 EXON Silent,Silent,Synonymous_T409T exm507549 5 176931294 [T/C] NM_001144875,NM_001144876,NM_024872 DOK3,DOK3,DOK3 EXON Silent,Silent,Missense_N394S exm507575 5 176931749 [T/C] NM_001144875,NM_001144876,NM_024872 DOK3,DOK3,DOK3 EXON Missense_D214N,Missense_D112N,Missense_D270N exm2257132 5 176935334 [A/G] NM_001144875,NM_001144876,NM_024872 DOK3,DOK3,DOK3 EXON Synonymous_T92T,Silent,Synonymous_T148T exm507604 5 176935417 [A/G] NM_001144875,NM_001144876,NM_024872 DOK3,DOK3,DOK3 EXON Missense_R65W,Silent,Missense_R121W exm507612 5 176935533 [T/C] NM_001144875,NM_001144876,NM_024872 DOK3,DOK3,DOK3 EXON Missense_R26Q,Silent,Missense_R82Q exm507617 5 176936490 [G/C] NM_001144875,NM_001144876,NM_024872 DOK3,DOK3,DOK3 EXON Missense_V18L,Missense_V18L,Missense_V74L exm507619 5 176936531 [A/C] NM_001144875,NM_001144876,NM_024872 DOK3,DOK3,DOK3 EXON Missense_L4R,Missense_L4R,Missense_L60R exm507625 5 176936646 [T/C] NM_001144875,NM_001144876,NM_024872 DOK3,DOK3,DOK3 EXON Silent,Silent,Missense_G22R exm507628 5 176936819 [C/G] NM_001144875,NM_001144876,NM_024872 DOK3,DOK3,DOK3 EXON Silent,Silent,Missense_R12P exm507630 5 176936831 [T/C] NM_001144875,NM_001144876,NM_024872 DOK3,DOK3,DOK3 EXON Silent,Silent,Missense_R8Q exm507660 5 176939576 [A/G] NM_016222 DDX41 EXON Synonymous_D490D exm2257133 5 176939576 [A/G] NM_016222 DDX41 EXON Synonymous_D490D exm507662 5 176939610 [T/C] NM_016222 DDX41 EXON Missense_R479Q exm507693 5 176941730 [T/C] NM_016222 DDX41 EXON Missense_V303M exm507700 5 176941967 [A/C] NM_016222 DDX41 EXON Missense_L250V exm507704 5 176941997 [T/C] NM_016222 DDX41 EXON Missense_I240V exm507715 5 176942767 [A/G] NM_016222 DDX41 EXON Missense_R164W exm507734 5 176943767 [A/G] NM_016222 DDX41 EXON Missense_Y33H exm507742 5 176943941 [A/C] NM_016222 DDX41 EXON Missense_E2D exm507743 5 176943944 [T/C] NM_016222 DDX41 EXON Missense_M1I exm507756 5 176951365 [C/G] NR_024019,NM_001190946 FAM193B,FAM193B EXON Silent,Missense_P706R exm507769 5 176951707 [T/C] NR_024019,NM_001190946 FAM193B,FAM193B EXON Silent,Missense_N592S exm507772 5 176951716 [T/G] NR_024019,NM_001190946 FAM193B,FAM193B EXON Silent,Missense_T589N exm507779 5 176951914 [A/G] NR_024019,NM_001190946 FAM193B,FAM193B EXON Silent,Missense_S523F exm507783 5 176952020 [T/C] NR_024019,NM_001190946 FAM193B,FAM193B EXON Silent,Missense_A488T exm507785 5 176952023 [A/G] NR_024019,NM_001190946 FAM193B,FAM193B EXON Silent,Missense_R487C exm507786 5 176952085 [T/C] NR_024019,NM_001190946 FAM193B,FAM193B EXON Silent,Missense_R466Q exm507787 5 176952101 [T/C] NR_024019,NM_001190946 FAM193B,FAM193B EXON Silent,Missense_D461N exm507792 5 176952178 [T/G] NR_024019,NM_001190946 FAM193B,FAM193B EXON Silent,Missense_E435A exm507834 5 176965939 [A/C] NR_024019,NM_001190946 FAM193B,FAM193B EXON Silent,Missense_D140E exm507840 5 177019262 [C/G] NM_017510 TMED9 EXON Missense_T16S exm507869 5 177022364 [A/G] NM_017510 TMED9 EXON Missense_V219I exm2242290 5 177023098 [T/A] NM_017510 TMED9 EXON Silent exm507876 5 177027249 [A/G] NM_007255 B4GALT7 EXON Nonsense_W13X exm507889 5 177031406 [T/C] NM_007255 B4GALT7 EXON Missense_H93Y exm507912 5 177034523 [T/C] NM_007255 B4GALT7 EXON Missense_R212W exm2096789 5 177035576 [T/C] NM_007255 B4GALT7 EXON Missense_R226C exm507921 5 177035597 [T/C] NM_007255 B4GALT7 EXON Missense_R233W exm507923 5 177035600 [T/C] NM_007255 B4GALT7 EXON Missense_R234C exm507929 5 177035924 [T/C] NM_007255 B4GALT7 EXON Missense_S246L exm507936 5 177036001 [A/G] NM_007255 B4GALT7 EXON Missense_A272T exm507942 5 177036622 [A/G] NM_007255 B4GALT7 EXON Missense_G304R exm2266050 5 177396392 [A/G] exm507994 5 177419747 [A/G] NM_006261 PROP1 EXON Missense_L215P exm508006 5 177419966 [A/G] NM_006261 PROP1 EXON Missense_A142V exm508007 5 177419967 [T/C] NM_006261 PROP1 EXON Missense_A142T exm508011 5 177421114 [T/C] NM_006261 PROP1 EXON Missense_R112Q exm508022 5 177421297 [G/C] NM_006261 PROP1 EXON Missense_G51A exm508026 5 177421336 [A/G] NM_006261 PROP1 EXON Missense_S38L exm508028 5 177422831 [A/G] NM_006261 PROP1 EXON Missense_T35M exm508031 5 177422876 [T/C] NM_006261 PROP1 EXON Missense_N20S exm508120 5 177546780 [A/G] NM_015111 N4BP3 EXON Missense_S66G exm508123 5 177546813 [T/C] NM_015111 N4BP3 EXON Missense_R77W exm508127 5 177546849 [T/C] NM_015111 N4BP3 EXON Missense_R89W exm508136 5 177547209 [A/G] NM_015111 N4BP3 EXON Missense_T121A exm508176 5 177548196 [A/G] NM_015111 N4BP3 EXON Missense_R317H exm508178 5 177548240 [T/C] NM_015111 N4BP3 EXON Missense_R332C exm508192 5 177548629 [A/G] NM_015111 N4BP3 EXON Missense_R421Q exm508201 5 177548815 [T/C] NM_015111 N4BP3 EXON Missense_A483V exm508228 5 177569661 [T/C] NM_022762 RMND5B EXON Nonsense_Q73X exm508240 5 177569937 [A/G] NM_022762 RMND5B EXON Missense_I124V exm508255 5 177570950 [A/G] NM_022762 RMND5B EXON Missense_V179I exm508276 5 177573274 [A/G] NM_022762 RMND5B EXON Missense_S285N exm508286 5 177574594 [T/G] NM_022762 RMND5B EXON Missense_Q307H exm508287 5 177574595 [T/C] NM_022762 RMND5B EXON Missense_R308W exm508289 5 177574635 [T/C] NM_022762 RMND5B EXON Missense_P321L exm508290 5 177574637 [T/G] NM_022762 RMND5B Silent exm508291 5 177574731 [T/C] NM_022762 RMND5B EXON Missense_I322T exm508313 5 177576782 [A/G] NM_017838,NM_001034833 NHP2,NHP2 EXON Missense_H132Y,Silent exm508317 5 177576825 [A/G] NM_017838,NM_001034833 NHP2,NHP2 EXON Synonymous_A117A,Missense_P82L exm508326 5 177577923 [T/C] NM_017838,NM_001034833 NHP2,NHP2 EXON Missense_R101Q,Silent exm508333 5 177580532 [T/C] NM_017838,NM_001034833 NHP2,NHP2 EXON Missense_V64M,Missense_V64M exm508367 5 177633872 [A/T] NM_004499,NM_031266 HNRNPAB,HNRNPAB EXON Missense_Y173F,Missense_Y173F exm508368 5 177634105 [T/C] NM_004499,NM_031266 HNRNPAB,HNRNPAB EXON Missense_I183T,Missense_I183T exm2274116 5 177634116 [A/G] NM_004499,NM_031266 HNRNPAB,HNRNPAB EXON Missense_M187V,Missense_M187V exm508377 5 177636422 [A/G] NM_004499,NM_031266,NM_153373 HNRNPAB,HNRNPAB,AGXT2L2 EXON Missense_G254D,Missense_G254D,Silent exm508383 5 177637219 [A/G] NM_004499,NM_031266,NM_153373 HNRNPAB,HNRNPAB,AGXT2L2 EXON Silent,Missense_G292S,Silent exm508390 5 177637612 [A/C] NM_004499,NM_031266,NM_153373 HNRNPAB,HNRNPAB,AGXT2L2 EXON Nonsense_Y282X,Nonsense_Y329X,Silent exm508397 5 177638957 [A/C] NM_153373 AGXT2L2 EXON Missense_V440L exm508399 5 177638965 [A/T] NM_153373 AGXT2L2 EXON Missense_E437V exm508404 5 177640034 [T/C] NM_153373 AGXT2L2 EXON Missense_M415V exm508413 5 177642337 [T/C] NM_153373 AGXT2L2 EXON Missense_S341N exm508438 5 177649929 [G/C] NM_153373 AGXT2L2 EXON Missense_A209P exm508442 5 177651448 [T/C] NM_153373 AGXT2L2 Silent exm508453 5 177651549 [A/G] NM_153373 AGXT2L2 EXON Missense_T173I exm508457 5 177651645 [T/C] NM_153373 AGXT2L2 EXON Missense_V167M exm508468 5 177652392 [T/C] NM_153373 AGXT2L2 EXON Missense_H126R exm2096963 5 177657017 [T/C] NM_153373 AGXT2L2 EXON Missense_N88D exm508482 5 177657080 [A/C] NM_153373 AGXT2L2 EXON Missense_V67L exm2277295 5 177657080 [T/C] NM_153373 AGXT2L2 EXON Missense_V67M exm2096970 5 177658460 [A/T] NM_153373 AGXT2L2 EXON Missense_M42L exm508490 5 177658496 [C/G] NM_153373 AGXT2L2 EXON Missense_D30H exm508515 5 177669056 [T/C] NM_173465 COL23A1 EXON Missense_Q523R exm508522 5 177669352 [T/C] NM_173465 COL23A1 EXON Missense_R495H exm508532 5 177673296 [A/G] NM_173465 COL23A1 EXON Missense_P458S exm508535 5 177673400 [T/C] NM_173465 COL23A1 EXON Missense_G451S exm2096986 5 177673423 [A/G] NM_173465 COL23A1 EXON Missense_A443V exm508543 5 177674821 [T/C] NM_173465 COL23A1 EXON Missense_I408M exm508547 5 177675193 [A/C] NM_173465 COL23A1 EXON Synonymous_L404L exm508563 5 177679555 [C/G] NM_173465 COL23A1 EXON Missense_P335R exm508575 5 177683377 [T/C] NM_173465 COL23A1 EXON Missense_T287A exm508576 5 177683382 [T/C] NM_173465 COL23A1 EXON Missense_R285Q exm508583 5 177683905 [A/G] NM_173465 COL23A1 EXON Missense_R267W exm508599 5 177689216 [A/G] NM_173465 COL23A1 Silent exm508609 5 177690210 [A/G] NM_173465 COL23A1 EXON Missense_A213V exm508615 5 177690277 [A/G] NM_173465 COL23A1 EXON Missense_P191S exm508620 5 177694309 [T/C] NM_173465 COL23A1 EXON Missense_R174Q exm508630 5 177715325 [T/C] NM_173465 COL23A1 EXON Synonymous_P147P exm508646 5 177733908 [T/C] NM_173465 COL23A1 EXON Missense_R125Q exm-rs17648108 5 177831556 [T/C] NM_173465 COL23A1 Silent exm2270272 5 177863083 [T/C] NM_173465 COL23A1 Silent exm508651 5 177987740 [T/C] NM_173465 COL23A1 EXON Missense_G102R exm508669 5 178035424 [T/C] NM_020666 CLK4 EXON Missense_I363V exm508682 5 178040609 [T/G] NM_020666 CLK4 EXON Missense_H231N exm508691 5 178043935 [A/T] NM_020666 CLK4 EXON Missense_T164S exm508694 5 178044353 [T/C] NM_020666 CLK4 EXON Missense_R156K exm508716 5 178050347 [T/C] NM_020666 CLK4 EXON Missense_R24H exm508717 5 178050348 [A/G] NM_020666 CLK4 EXON Missense_R24C exm508719 5 178050380 [T/C] NM_020666 CLK4 EXON Missense_D13G exm508725 5 178139078 [T/A] NM_005649 ZNF354A EXON Missense_I601F exm508729 5 178139296 [T/C] NM_005649 ZNF354A EXON Missense_G528E exm508751 5 178139809 [T/C] NM_005649 ZNF354A EXON Missense_N357S exm508754 5 178139890 [A/G] NM_005649 ZNF354A EXON Missense_P330L exm508755 5 178139896 [T/C] NM_005649 ZNF354A EXON Missense_Y328C exm508756 5 178139907 [T/G] NM_005649 ZNF354A EXON Missense_N324K exm508758 5 178139957 [T/C] NM_005649 ZNF354A EXON Missense_S308G exm2257137 5 178140105 [A/G] NM_005649 ZNF354A EXON Synonymous_I258I exm508768 5 178140214 [T/G] NM_005649 ZNF354A EXON Missense_T222N exm508770 5 178140242 [A/G] NM_005649 ZNF354A EXON Missense_R213C exm508779 5 178140436 [A/G] NM_005649 ZNF354A EXON Missense_T148I exm508780 5 178140536 [T/C] NM_005649 ZNF354A EXON Missense_N115D exm508785 5 178140619 [A/G] NM_005649 ZNF354A EXON Missense_S87L exm508788 5 178152397 [A/C] NM_005649 ZNF354A EXON Missense_G79V exm508790 5 178152450 [T/G] NM_005649 ZNF354A EXON Missense_K61N exm508797 5 178154086 [T/C] NM_005649 ZNF354A EXON Missense_R25Q exm508798 5 178154116 [A/G] NM_005649 ZNF354A EXON Missense_T15M exm2097065 5 178294024 [A/G] NM_058230 ZNF354B EXON Missense_E70K exm508821 5 178294060 [A/G] NM_058230 ZNF354B EXON Missense_V82I exm508829 5 178309848 [A/G] NM_058230 ZNF354B EXON Missense_K132R exm508831 5 178309890 [T/C] NM_058230 ZNF354B EXON Missense_V146A exm508832 5 178309896 [A/G] NM_058230 ZNF354B EXON Missense_H148R exm508834 5 178309914 [T/C] NM_058230 ZNF354B EXON Missense_V154A exm508838 5 178310063 [T/C] NM_058230 ZNF354B EXON Nonsense_Q204X exm508839 5 178310073 [T/C] NM_058230 ZNF354B EXON Missense_I207T exm508842 5 178310142 [A/G] NM_058230 ZNF354B EXON Missense_R230H exm508850 5 178310316 [A/G] NM_058230 ZNF354B EXON Missense_H288R exm508852 5 178310439 [A/T] NM_058230 ZNF354B EXON Missense_N329I exm508854 5 178310460 [A/G] NM_058230 ZNF354B EXON Missense_S336N exm508876 5 178310934 [A/G] NM_058230 ZNF354B EXON Missense_Y494C exm508881 5 178311021 [A/G] NM_058230 ZNF354B EXON Missense_R523Q exm508883 5 178311066 [T/C] NM_058230 ZNF354B EXON Missense_I538T exm508889 5 178311250 [T/G] NM_058230 ZNF354B EXON Missense_I599M exm508891 5 178311260 [A/G] NM_058230 ZNF354B EXON Missense_E603K exm508905 5 178358653 [C/G] NM_030613 ZFP2 EXON Missense_Q113H exm508906 5 178358696 [A/G] NM_030613 ZFP2 EXON Missense_K128E exm508934 5 178359180 [A/G] NM_030613 ZFP2 EXON Missense_Q289R exm508938 5 178359217 [A/C] NM_030613 ZFP2 EXON Missense_N301K exm508946 5 178359353 [A/G] NM_030613 ZFP2 EXON Missense_I347V exm508948 5 178359386 [A/G] NM_030613 ZFP2 EXON Missense_V358M exm508949 5 178359410 [T/C] NM_030613 ZFP2 EXON Nonsense_R366X exm508957 5 178359683 [G/C] NM_030613 ZFP2 EXON Missense_Q457E exm508960 5 178359696 [T/C] NM_030613 ZFP2 EXON Missense_T461M exm508974 5 178373941 [A/T] NM_001178090,NM_182594,NM_001178089 ZNF454,ZNF454,ZNF454 EXON Missense_K68N,Missense_K68N,Missense_K68N exm508979 5 178373970 [T/C] NM_001178090,NM_182594,NM_001178089 ZNF454,ZNF454,ZNF454 EXON Missense_P78L,Missense_P78L,Missense_P78L exm2270172 5 178381722 [T/C] NM_001178090,NM_182594,NM_001178089 ZNF454,ZNF454,ZNF454 Silent,Silent,Silent exm508986 5 178391827 [T/A] NM_001178090,NM_182594,NM_001178089 ZNF454,ZNF454,ZNF454 EXON Missense_V141E,Missense_V141E,Missense_V141E exm508988 5 178391860 [A/G] NM_001178090,NM_182594,NM_001178089 ZNF454,ZNF454,ZNF454 EXON Missense_C152Y,Missense_C152Y,Missense_C152Y exm508989 5 178391902 [A/C] NM_001178090,NM_182594,NM_001178089 ZNF454,ZNF454,ZNF454 EXON Missense_D166A,Missense_D166A,Missense_D166A exm509007 5 178392653 [T/G] NM_001178090,NM_182594,NM_001178089 ZNF454,ZNF454,ZNF454 EXON Missense_L416F,Missense_L416F,Missense_L416F exm2097124 5 178392742 [A/G] NM_001178090,NM_182594,NM_001178089 ZNF454,ZNF454,ZNF454 EXON Missense_E446G,Missense_E446G,Missense_E446G exm509017 5 178408668 [T/G] NM_000843 GRM6 EXON Missense_A875D exm509020 5 178408704 [A/G] NM_000843 GRM6 EXON Missense_T863M exm509025 5 178408768 [T/C] NM_000843 GRM6 EXON Missense_V842I exm509026 5 178408783 [T/C] NM_000843 GRM6 EXON Missense_V837I exm509034 5 178409927 [A/G] NM_000843 GRM6 EXON Missense_A807V exm509035 5 178409933 [T/C] NM_000843 GRM6 EXON Missense_G805D exm509047 5 178410090 [T/C] NM_000843 GRM6 EXON Missense_G753S exm509054 5 178410177 [T/C] NM_000843 GRM6 EXON Missense_V724M exm509060 5 178410213 [T/C] NM_000843 GRM6 EXON Missense_M712V exm509064 5 178413163 [C/G] NM_000843 GRM6 EXON Missense_L698V exm509071 5 178413205 [A/G] NM_000843 GRM6 EXON Missense_R684C exm509073 5 178413226 [A/G] NM_000843 GRM6 EXON Missense_R677C exm509074 5 178413234 [T/C] NM_000843 GRM6 EXON Missense_R674H exm509082 5 178413297 [T/C] NM_000843 GRM6 EXON Missense_R653H exm509083 5 178413298 [A/G] NM_000843 GRM6 EXON Missense_R653C exm2257141 5 178413299 [A/G] NM_000843 GRM6 EXON Synonymous_A652A exm509088 5 178413312 [A/G] NM_000843 GRM6 EXON Missense_A648V exm509097 5 178413394 [A/G] NM_000843 GRM6 EXON Nonsense_R621X exm509100 5 178413399 [A/G] NM_000843 GRM6 EXON Missense_S619L exm509101 5 178413406 [A/G] NM_000843 GRM6 EXON Missense_R617W exm509105 5 178413417 [A/G] NM_000843 GRM6 EXON Missense_T613M exm509107 5 178413430 [A/G] NM_000843 GRM6 EXON Missense_R609W exm509110 5 178413450 [A/G] NM_000843 GRM6 EXON Missense_T602M exm509115 5 178413489 [A/G] NM_000843 GRM6 EXON Missense_P589L exm509119 5 178413523 [A/G] NM_000843 GRM6 EXON Missense_R578C exm509122 5 178413549 [A/G] NM_000843 GRM6 EXON Missense_T569M exm509123 5 178413561 [A/G] NM_000843 GRM6 EXON Missense_T565M exm509131 5 178413616 [A/G] NM_000843 GRM6 EXON Missense_R547C exm2257142 5 178413623 [A/G] NM_000843 GRM6 EXON Synonymous_D544D exm509136 5 178413676 [A/G] NM_000843 GRM6 EXON Missense_R527W exm509138 5 178413684 [A/G] NM_000843 GRM6 EXON Missense_P524L exm509139 5 178413688 [T/C] NM_000843 GRM6 EXON Missense_G523R exm509144 5 178413711 [A/G] NM_000843 GRM6 EXON Missense_S515L exm2097147 5 178413718 [T/C] NM_000843 GRM6 EXON Missense_V513M exm2257143 5 178413884 [A/G] NM_000843 GRM6 EXON Synonymous_G485G exm2097150 5 178413909 [A/G] NM_000843 GRM6 EXON Missense_A477V exm509158 5 178413934 [A/G] NM_000843 GRM6 EXON Missense_R469W exm2257144 5 178413947 [T/C] NM_000843 GRM6 EXON Synonymous_G464G exm509166 5 178415937 [A/G] NM_000843 GRM6 EXON Synonymous_N451N exm509174 5 178415998 [A/G] NM_000843 GRM6 EXON Missense_P431L exm509187 5 178416277 [T/C] NM_000843 GRM6 EXON Missense_R381H exm509204 5 178418549 [T/C] NM_000843 GRM6 EXON Missense_I245V exm2097170 5 178418555 [A/C] NM_000843 GRM6 EXON Missense_V243F exm509211 5 178418877 [A/G] NM_000843 GRM6 EXON Nonsense_R238X exm509214 5 178418946 [A/G] NM_000843 GRM6 EXON Missense_Y215H exm509217 5 178419000 [T/C] NM_000843 GRM6 EXON Missense_D197N exm509232 5 178421770 [T/G] NM_000843 GRM6 EXON Missense_Q59P exm509243 5 178455114 [A/G] NM_001136116 ZNF879 EXON Missense_Q81R exm509247 5 178459283 [A/G] NM_001136116 ZNF879 EXON Missense_T112A exm509249 5 178459426 [A/C] NM_001136116 ZNF879 EXON Missense_E159D exm509263 5 178460513 [A/G] NM_001136116 ZNF879 EXON Missense_R522G exm509269 5 178503473 [A/G] NM_014594 ZNF354C EXON Missense_V19M exm509277 5 178504110 [T/C] NM_014594 ZNF354C EXON Nonsense_Q65X exm509278 5 178504131 [A/G] NM_014594 ZNF354C EXON Missense_M72V exm509284 5 178505831 [A/G] NM_014594 ZNF354C EXON Missense_E133G exm509286 5 178505836 [A/G] NM_014594 ZNF354C EXON Missense_E135K exm509292 5 178505948 [A/G] NM_014594 ZNF354C EXON Missense_N172S exm509293 5 178505982 [A/G] NM_014594 ZNF354C EXON Missense_I183M exm509294 5 178505987 [A/G] NM_014594 ZNF354C EXON Missense_R185K exm509295 5 178506086 [A/G] NM_014594 ZNF354C EXON Missense_C218Y exm509297 5 178506177 [C/G] NM_014594 ZNF354C EXON Missense_E248D exm509314 5 178506547 [A/G] NM_014594 ZNF354C EXON Missense_A372T exm509316 5 178506644 [A/G] NM_014594 ZNF354C EXON Missense_R404Q exm509330 5 178507004 [A/G] NM_014594 ZNF354C EXON Missense_Y524C exm509334 5 178507048 [G/C] NM_014594 ZNF354C EXON Missense_L539V exm509335 5 178507069 [T/C] NM_014594 ZNF354C EXON Missense_F546L exm509337 5 178507090 [A/G] NM_014594 ZNF354C EXON Missense_E553K exm509342 5 178540953 [A/G] NM_014244 ADAMTS2 EXON Missense_P1184L exm509346 5 178540975 [A/G] NM_014244 ADAMTS2 EXON Missense_P1177S exm509347 5 178540998 [A/C] NM_014244 ADAMTS2 EXON Missense_G1169V exm509353 5 178541152 [T/C] NM_014244 ADAMTS2 EXON Missense_V1118M exm509368 5 178549719 [A/G] NM_014244 ADAMTS2 EXON Missense_A1005V exm509384 5 178552098 [A/G] NM_014244 ADAMTS2 EXON Missense_P945L exm2257145 5 178552115 [A/G] NM_014244 ADAMTS2 EXON Synonymous_S939S exm509386 5 178552115 [A/G] NM_014244 ADAMTS2 EXON Synonymous_S939S exm509387 5 178552137 [T/C] NM_014244 ADAMTS2 EXON Missense_R932Q exm2257146 5 178552169 [A/G] NM_014244 ADAMTS2 EXON Synonymous_G921G exm509407 5 178555097 [T/C] NM_014244 ADAMTS2 EXON Missense_R827Q exm509410 5 178556938 [T/C] NM_014244 ADAMTS2 EXON Missense_V818I exm509417 5 178557098 [A/G] NM_014244 ADAMTS2 EXON Synonymous_A764A exm509420 5 178559249 [T/C] NM_014244 ADAMTS2 EXON Missense_A758T exm509422 5 178559254 [A/G] NM_014244 ADAMTS2 EXON Missense_V756A exm509431 5 178559877 [T/C] NM_014244 ADAMTS2 EXON Missense_G704S exm2257147 5 178562922 [A/G] NM_014244 ADAMTS2 EXON Synonymous_R691R exm2097234 5 178562980 [A/C] NM_014244 ADAMTS2 EXON Missense_R672L exm509439 5 178563002 [T/C] NM_014244 ADAMTS2 EXON Missense_G665R exm-rs10039254 5 178570914 [A/G] NM_014244 ADAMTS2 Silent exm509474 5 178579253 [A/G] NM_014244,NM_021599 ADAMTS2,ADAMTS2 EXON Missense_R507W,Missense_R507W exm509488 5 178581092 [T/C] NM_014244,NM_021599 ADAMTS2,ADAMTS2 EXON Missense_H447R,Missense_H447R exm509509 5 178585865 [T/C] NM_014244,NM_021599 ADAMTS2,ADAMTS2 EXON Missense_E331K,Missense_E331K exm509513 5 178608083 [T/C] NM_014244,NM_021599 ADAMTS2,ADAMTS2 EXON Missense_S322N,Missense_S322N exm509522 5 178634546 [T/C] NM_014244,NM_021599 ADAMTS2,ADAMTS2 EXON Missense_V287I,Missense_V287I exm509533 5 178634641 [T/C] NM_014244,NM_021599 ADAMTS2,ADAMTS2 EXON Missense_R255Q,Missense_R255Q exm509536 5 178634657 [T/C] NM_014244,NM_021599 ADAMTS2,ADAMTS2 EXON Missense_A250T,Missense_A250T exm509539 5 178634672 [T/C] NM_014244,NM_021599 ADAMTS2,ADAMTS2 EXON Missense_V245I,Missense_V245I exm509546 5 178634704 [T/C] NM_014244,NM_021599 ADAMTS2,ADAMTS2 EXON Missense_D234G,Missense_D234G exm509547 5 178634715 [T/C] NM_014244,NM_021599 ADAMTS2,ADAMTS2 EXON Synonymous_G230G,Synonymous_G230G exm2266145 5 178681856 [A/G] NM_014244,NM_021599 ADAMTS2,ADAMTS2 Silent,Silent exm509550 5 178699945 [A/G] NM_014244,NM_021599 ADAMTS2,ADAMTS2 EXON Missense_P219S,Missense_P219S exm509571 5 178771042 [A/C] NM_014244,NM_021599 ADAMTS2,ADAMTS2 EXON Missense_R87L,Missense_R87L exm2257148 5 178886655 [T/C] exm-rs9329079 5 178936722 [A/G] exm509617 5 179007951 [T/G] NM_025158,NM_001040452,NM_001040451 RUFY1,RUFY1,RUFY1 EXON Missense_H298Q,Missense_H190Q,Missense_H190Q exm509621 5 179016572 [T/G] NM_025158,NM_001040452,NM_001040451 RUFY1,RUFY1,RUFY1 EXON Missense_C351F,Missense_C243F,Missense_C243F exm509628 5 179018678 [A/G] NM_025158,NM_001040452,NM_001040451 RUFY1,RUFY1,RUFY1 EXON Missense_Q394R,Missense_Q286R,Missense_Q286R exm509692 5 179036506 [T/G] NM_025158,NM_001040452,NM_001040451 RUFY1,RUFY1,RUFY1 EXON Missense_S705A,Missense_S597A,Missense_S597A exm509709 5 179043958 [T/C] NM_005520,NM_001257293 HNRNPH1,HNRNPH1 EXON Synonymous_E373E,Synonymous_E373E exm509755 5 179069943 [T/G] NM_001142306 C5orf60 EXON Missense_L204M exm509768 5 179071822 [C/G] NM_001142306 C5orf60 EXON Missense_P67R exm509779 5 179105594 [T/G] NM_001164444 CBY3 EXON Missense_D240A exm509781 5 179105675 [G/C] NM_001164444 CBY3 EXON Missense_A213G exm509782 5 179105676 [T/C] NM_001164444 CBY3 EXON Missense_A213T exm509783 5 179105699 [T/C] NM_001164444 CBY3 EXON Missense_N205S exm2097360 5 179135353 [A/C] NM_001024649,NM_001746 CANX,CANX EXON Missense_L140M,Missense_L140M exm509822 5 179146718 [A/G] NM_001024649,NM_001746 CANX,CANX EXON Missense_E321K,Missense_E321K exm509826 5 179147481 [A/G] NM_001024649,NM_001746 CANX,CANX EXON Missense_V368I,Missense_V368I exm509842 5 179150667 [A/G] NM_001024649,NM_001746 CANX,CANX EXON Missense_V469I,Missense_V469I exm509855 5 179151758 [A/G] NM_001024649,NM_001746 CANX,CANX EXON Missense_E540G,Missense_E540G exm509882 5 179192418 [A/G] NM_014757 MAML1 EXON Missense_G136E exm509883 5 179192436 [A/G] NM_014757 MAML1 EXON Missense_R142Q exm509885 5 179192459 [A/G] NM_014757 MAML1 EXON Missense_I150V exm509887 5 179192493 [T/G] NM_014757 MAML1 EXON Missense_L161R exm509891 5 179192580 [A/G] NM_014757 MAML1 EXON Missense_R190H exm509916 5 179193270 [T/C] NM_014757 MAML1 EXON Missense_P420L exm509919 5 179193323 [A/G] NM_014757 MAML1 EXON Missense_S438G exm509922 5 179193441 [A/C] NM_014757 MAML1 EXON Missense_P477H exm509924 5 179193518 [A/G] NM_014757 MAML1 EXON Missense_A503T exm509926 5 179193548 [A/G] NM_014757 MAML1 EXON Missense_G513S exm509932 5 179193668 [A/G] NM_014757 MAML1 EXON Missense_E553K exm509935 5 179193720 [A/G] NM_014757 MAML1 EXON Missense_R570Q exm509938 5 179195867 [A/G] NM_014757 MAML1 EXON Missense_S583N exm509939 5 179195903 [T/C] NM_014757 MAML1 EXON Missense_T595I exm509951 5 179200897 [A/G] NM_014757 MAML1 EXON Synonymous_G690G exm2257150 5 179200909 [G/C] NM_014757 MAML1 EXON Synonymous_A694A exm509955 5 179200919 [A/G] NM_014757 MAML1 EXON Missense_M698V exm509965 5 179201214 [T/C] NM_014757 MAML1 EXON Missense_A796V exm509969 5 179201298 [T/C] NM_014757 MAML1 EXON Missense_P824L exm509971 5 179201332 [G/C] NM_014757 MAML1 EXON Missense_Q835H exm509973 5 179201359 [T/G] NM_014757 MAML1 EXON Missense_M844I exm509974 5 179201432 [A/C] NM_014757 MAML1 EXON Missense_Q869K exm509981 5 179201540 [G/C] NM_014757 MAML1 EXON Missense_P905A exm510000 5 179201847 [A/G] NM_014757 MAML1 EXON Missense_S1007N exm510024 5 179222858 [A/G] NM_145867 LTC4S Silent exm510055 5 179225386 [A/G] NM_054013,NM_014275 MGAT4B,MGAT4B EXON Missense_L506F,Missense_L491F exm510057 5 179225434 [T/G] NM_054013,NM_014275 MGAT4B,MGAT4B EXON Missense_N490H,Missense_N475H exm510064 5 179225557 [T/C] NM_054013,NM_014275 MGAT4B,MGAT4B EXON Missense_E475K,Missense_E460K exm510088 5 179226507 [A/G] NM_054013,NM_014275 MGAT4B,MGAT4B EXON Missense_A362V,Missense_A347V exm2257151 5 179226563 [A/G] NM_054013,NM_014275 MGAT4B,MGAT4B EXON Synonymous_I343I,Synonymous_I328I exm510096 5 179227040 [T/C] NM_054013,NM_014275 MGAT4B,MGAT4B EXON Missense_N290S,Missense_N275S exm510114 5 179228375 [C/G] NM_054013,NM_014275 MGAT4B,MGAT4B EXON Missense_Q188E,Missense_Q173E exm510116 5 179228377 [A/G] NM_054013,NM_014275 MGAT4B,MGAT4B EXON Missense_P187L,Missense_P172L exm510129 5 179228625 [T/G] NM_054013,NM_014275 MGAT4B,MGAT4B EXON Missense_H133P,Missense_H118P exm510137 5 179228694 [T/C] NM_054013,NM_014275 MGAT4B,MGAT4B EXON Missense_E110G,Missense_E95G exm510162 5 179248034 [T/C] NM_001142298,NM_001142299,NM_003900 SQSTM1,SQSTM1,SQSTM1 EXON Silent,Silent,Missense_A33V exm510169 5 179250884 [T/C] NM_001142298,NM_001142299,NM_003900 SQSTM1,SQSTM1,SQSTM1 EXON Missense_R26C,Missense_R26C,Missense_R110C exm510173 5 179250908 [T/C] NM_001142298,NM_001142299,NM_003900 SQSTM1,SQSTM1,SQSTM1 EXON Missense_P34S,Missense_P34S,Missense_P118S exm510179 5 179251013 [A/G] NM_001142298,NM_001142299,NM_003900 SQSTM1,SQSTM1,SQSTM1 EXON Missense_V69I,Missense_V69I,Missense_V153I exm510191 5 179251312 [T/C] NM_001142298,NM_001142299,NM_003900 SQSTM1,SQSTM1,SQSTM1 EXON Missense_T137M,Missense_T137M,Missense_T221M exm510192 5 179252155 [T/C] NM_001142298,NM_001142299,NM_003900 SQSTM1,SQSTM1,SQSTM1 EXON Missense_P144L,Missense_P144L,Missense_P228L exm510196 5 179252184 [A/G] NM_001142298,NM_001142299,NM_003900 SQSTM1,SQSTM1,SQSTM1 EXON Missense_K154E,Missense_K154E,Missense_K238E exm510206 5 179260077 [A/G] NM_001142298,NM_001142299,NM_003900 SQSTM1,SQSTM1,SQSTM1 EXON Missense_R183H,Missense_R183H,Missense_R267H exm510211 5 179260101 [A/G] NM_001142298,NM_001142299,NM_003900 SQSTM1,SQSTM1,SQSTM1 EXON Missense_S191N,Missense_S191N,Missense_S275N exm510212 5 179260124 [A/G] NM_001142298,NM_001142299,NM_003900 SQSTM1,SQSTM1,SQSTM1 EXON Missense_S199G,Missense_S199G,Missense_S283G exm510243 5 179260725 [T/C] NM_001142298,NM_001142299,NM_003900 SQSTM1,SQSTM1,SQSTM1 EXON Missense_S286P,Missense_S286P,Missense_S370P exm510247 5 179263445 [T/C] NM_001142298,NM_001142299,NM_003900 SQSTM1,SQSTM1,SQSTM1 EXON Missense_P308L,Missense_P308L,Missense_P392L exm510258 5 179263586 [T/C] NM_001142298,NM_001142299,NM_003900 SQSTM1,SQSTM1,SQSTM1 EXON Missense_P355L,Missense_P355L,Missense_P439L exm510278 5 179264615 [A/G] NM_001142298,NM_001142299,NM_003900,NM_016175,NM_001017987 SQSTM1,SQSTM1,SQSTM1,C5orf45,C5orf45 EXON Silent,Silent,Silent,Nonsense_Q270X,Nonsense_Q215X exm510279 5 179264633 [C/G] NM_001142298,NM_001142299,NM_003900,NM_016175,NM_001017987 SQSTM1,SQSTM1,SQSTM1,C5orf45,C5orf45 EXON Silent,Silent,Silent,Missense_Q264E,Missense_Q209E exm510281 5 179264666 [T/C] NM_001142298,NM_001142299,NM_003900,NM_016175,NM_001017987 SQSTM1,SQSTM1,SQSTM1,C5orf45,C5orf45 EXON Silent,Silent,Silent,Missense_D253N,Missense_D198N exm510285 5 179264731 [T/C] NM_001142298,NM_001142299,NM_003900,NM_016175,NM_001017987 SQSTM1,SQSTM1,SQSTM1,C5orf45,C5orf45 EXON Silent,Silent,Silent,Missense_Q231R,Missense_Q176R exm510286 5 179264734 [A/G] NM_001142298,NM_001142299,NM_003900,NM_016175,NM_001017987 SQSTM1,SQSTM1,SQSTM1,C5orf45,C5orf45 EXON Silent,Silent,Silent,Missense_A230V,Missense_A175V exm510295 5 179267889 [T/C] NM_016175,NM_001017987 C5orf45,C5orf45 EXON Missense_A174T,Missense_A119T exm510301 5 179267949 [T/C] NM_016175,NM_001017987 C5orf45,C5orf45 EXON Missense_R154G,Missense_R99G exm510310 5 179268995 [T/C] NM_016175,NM_001017987 C5orf45,C5orf45 EXON Missense_E121K,Missense_E66K exm510320 5 179275051 [A/C] NM_016175,NM_001017987 C5orf45,C5orf45 EXON Missense_S48A,Silent exm-rs11249661 5 179277874 [A/G] NM_016175,NM_001017987 C5orf45,C5orf45 Silent,Silent exm510325 5 179280392 [A/G] NM_016175,NM_001017987 C5orf45,C5orf45 EXON Nonsense_Q38X,Nonsense_Q38X exm510328 5 179285781 [A/G] NM_016175,NM_001017987 C5orf45,C5orf45 EXON Missense_R6C,Missense_R6C exm510333 5 179290477 [T/C] NM_015043,NM_198868 TBC1D9B,TBC1D9B EXON Missense_D1225N,Missense_D1242N exm510335 5 179290483 [T/C] NM_015043,NM_198868 TBC1D9B,TBC1D9B EXON Missense_A1223T,Missense_A1240T exm510336 5 179290494 [T/C] NM_015043,NM_198868 TBC1D9B,TBC1D9B EXON Missense_Q1219R,Missense_Q1236R exm510340 5 179290537 [A/C] NM_015043,NM_198868 TBC1D9B,TBC1D9B EXON Missense_D1205Y,Missense_D1222Y exm510345 5 179290672 [T/C] NM_015043,NM_198868 TBC1D9B,TBC1D9B EXON Missense_V1160M,Missense_V1177M exm510352 5 179290794 [T/C] NM_015043,NM_198868 TBC1D9B,TBC1D9B EXON Missense_Q1119R,Missense_Q1136R exm510357 5 179290845 [T/G] NM_015043,NM_198868 TBC1D9B,TBC1D9B EXON Missense_K1102T,Missense_K1119T exm510359 5 179290870 [G/C] NM_015043,NM_198868 TBC1D9B,TBC1D9B EXON Missense_A1094P,Missense_A1111P exm510362 5 179290918 [T/C] NM_015043,NM_198868 TBC1D9B,TBC1D9B EXON Missense_A1078T,Missense_A1095T exm510364 5 179290933 [T/C] NM_015043,NM_198868 TBC1D9B,TBC1D9B EXON Missense_E1073K,Missense_E1090K exm510371 5 179291128 [T/C] NM_015043,NM_198868 TBC1D9B,TBC1D9B EXON Missense_E1008K,Missense_E1025K exm510373 5 179292315 [A/G] NM_015043,NM_198868 TBC1D9B,TBC1D9B EXON Missense_M987T,Missense_M1004T exm510374 5 179292318 [T/C] NM_015043,NM_198868 TBC1D9B,TBC1D9B EXON Missense_R986Q,Missense_R1003Q exm510390 5 179294798 [A/G] NM_015043,NM_198868 TBC1D9B,TBC1D9B EXON Missense_T948I,Missense_T948I exm510395 5 179296771 [A/G] NM_015043,NM_198868 TBC1D9B,TBC1D9B EXON Missense_P930L,Missense_P930L exm510396 5 179296831 [T/C] NM_015043,NM_198868 TBC1D9B,TBC1D9B EXON Missense_G910E,Missense_G910E exm510417 5 179297459 [A/G] NM_015043,NM_198868 TBC1D9B,TBC1D9B EXON Missense_R841C,Missense_R841C exm510419 5 179298491 [T/C] NM_015043,NM_198868 TBC1D9B,TBC1D9B EXON Missense_E819K,Missense_E819K exm510422 5 179298526 [T/C] NM_015043,NM_198868 TBC1D9B,TBC1D9B EXON Missense_R807Q,Missense_R807Q exm510428 5 179299979 [T/G] NM_015043,NM_198868 TBC1D9B,TBC1D9B EXON Missense_S776R,Missense_S776R exm510435 5 179301972 [T/C] NM_015043,NM_198868 TBC1D9B,TBC1D9B EXON Missense_V706I,Missense_V706I exm510438 5 179302013 [A/G] NM_015043,NM_198868 TBC1D9B,TBC1D9B EXON Missense_F692S,Missense_F692S exm510446 5 179302921 [T/C] NM_015043,NM_198868 TBC1D9B,TBC1D9B EXON Synonymous_V633V,Synonymous_V633V exm510464 5 179306048 [A/G] NM_015043,NM_198868 TBC1D9B,TBC1D9B EXON Synonymous_S522S,Synonymous_S522S exm510476 5 179306653 [C/G] NM_015043,NM_198868 TBC1D9B,TBC1D9B EXON Missense_P464R,Missense_P464R exm510493 5 179315308 [G/C] NM_015043,NM_198868 TBC1D9B,TBC1D9B EXON Missense_T350S,Missense_T350S exm2097600 5 179318422 [T/C] NM_015043,NM_198868 TBC1D9B,TBC1D9B EXON Missense_S334N,Missense_S334N exm510501 5 179318539 [T/C] NM_015043,NM_198868 TBC1D9B,TBC1D9B EXON Missense_R295Q,Missense_R295Q exm510511 5 179320308 [T/C] NM_015043,NM_198868 TBC1D9B,TBC1D9B EXON Missense_N246S,Missense_N246S exm510514 5 179320359 [G/C] NM_015043,NM_198868 TBC1D9B,TBC1D9B EXON Missense_S229C,Missense_S229C exm510517 5 179320378 [T/C] NM_015043,NM_198868 TBC1D9B,TBC1D9B EXON Missense_D223N,Missense_D223N exm510522 5 179320447 [T/C] NM_015043,NM_198868 TBC1D9B,TBC1D9B EXON Missense_V200M,Missense_V200M exm2097611 5 179321452 [A/G] NM_015043,NM_198868 TBC1D9B,TBC1D9B EXON Missense_R171W,Missense_R171W exm510530 5 179321458 [T/C] NM_015043,NM_198868 TBC1D9B,TBC1D9B EXON Missense_V169M,Missense_V169M exm2270273 5 179328228 [T/C] NM_015043,NM_198868 TBC1D9B,TBC1D9B Silent,Silent exm510546 5 179331789 [T/C] NM_015043,NM_198868 TBC1D9B,TBC1D9B EXON Missense_V48M,Missense_V48M exm510562 5 179393923 [T/C] NM_018434 RNF130 EXON Missense_D345N exm510564 5 179393926 [T/C] NM_018434 RNF130 EXON Missense_G344S exm510572 5 179405219 [A/G] NM_018434 RNF130 EXON Nonsense_R278X exm510577 5 179407158 [T/C] NM_018434 RNF130 EXON Missense_T246A exm510580 5 179440089 [A/C] NM_018434 RNF130 EXON Missense_R222M exm510584 5 179440219 [T/C] NM_018434 RNF130 EXON Missense_I179V exm-rs13161895 5 179471201 [T/C] NM_018434 RNF130 Silent exm510646 5 179545864 [T/C] NM_175062 RASGEF1C EXON Missense_G304S exm2097665 5 179546401 [A/G] NM_175062 RASGEF1C EXON Synonymous_D284D exm510674 5 179555604 [G/C] NM_175062 RASGEF1C EXON Missense_R149G exm510694 5 179564660 [T/C] NM_175062 RASGEF1C EXON Missense_R77Q exm2266051 5 179621485 [A/G] NM_175062 RASGEF1C Silent exm510707 5 179663409 [A/G] NM_002752,NM_139070,NM_139069,NM_139068 MAPK9,MAPK9,MAPK9,MAPK9 EXON Missense_T417M,Missense_T417M,Silent,Silent exm510709 5 179663458 [T/C] NM_002752,NM_139070,NM_139069,NM_139068 MAPK9,MAPK9,MAPK9,MAPK9 EXON Missense_T401A,Missense_T401A,Silent,Silent exm2257153 5 179665354 [A/G] NM_002752,NM_139070,NM_139069,NM_139068 MAPK9,MAPK9,MAPK9,MAPK9 EXON Synonymous_G370G,Synonymous_G370G,Synonymous_G370G,Synonymous_G370G exm510722 5 179665367 [A/C] NM_002752,NM_139070,NM_139069,NM_139068 MAPK9,MAPK9,MAPK9,MAPK9 EXON Missense_R366I,Missense_R366I,Missense_R366I,Missense_R366I exm2257154 5 179668088 [A/G] NM_002752,NM_139070,NM_139069,NM_139068 MAPK9,MAPK9,MAPK9,MAPK9 EXON Synonymous_D313D,Synonymous_D313D,Synonymous_D313D,Synonymous_D313D exm510739 5 179674888 [T/C] NM_002752,NM_139070,NM_139069,NM_139068,NM_001135044 MAPK9,MAPK9,MAPK9,MAPK9,MAPK9 EXON Silent,Missense_V219I,Missense_V219I,Silent,Silent exm510743 5 179675974 [A/G] NM_002752,NM_139070,NM_139069,NM_139068,NM_001135044 MAPK9,MAPK9,MAPK9,MAPK9,MAPK9 EXON Synonymous_N205N,Synonymous_N205N,Synonymous_N205N,Synonymous_N205N,Synonymous_N205N exm510754 5 179707468 [T/C] NM_002752,NM_139070,NM_139069,NM_139068,NM_001135044 MAPK9,MAPK9,MAPK9,MAPK9,MAPK9 EXON Missense_I32V,Missense_I32V,Missense_I32V,Missense_I32V,Missense_I32V exm2097712 5 179707528 [T/C] NM_002752,NM_139070,NM_139069,NM_139068,NM_001135044 MAPK9,MAPK9,MAPK9,MAPK9,MAPK9 EXON Missense_S12G,Missense_S12G,Missense_S12G,Missense_S12G,Missense_S12G exm510766 5 179729440 [C/G] NM_005110 GFPT2 EXON Missense_V663L exm-rs6879260 5 179731014 [T/C] NM_005110 GFPT2 Silent exm510804 5 179739451 [A/G] NM_005110 GFPT2 EXON Missense_R509C exm510812 5 179740827 [T/C] NM_005110 GFPT2 EXON Missense_I471V exm510831 5 179743810 [T/C] NM_005110 GFPT2 EXON Missense_R369Q exm510832 5 179743819 [T/C] NM_005110 GFPT2 EXON Missense_R366Q exm510848 5 179745858 [A/G] NM_005110 GFPT2 EXON Missense_S298L exm510854 5 179745901 [T/C] NM_005110 GFPT2 EXON Missense_A284T exm2242332 5 179745956 [A/G] NM_005110 GFPT2 EXON Synonymous_S265S exm2270174 5 179765467 [T/C] NM_005110 GFPT2 Silent exm510899 5 179765523 [A/G] NM_005110 GFPT2 EXON Missense_R29W exm-rs10464059 5 179794208 [A/G] exm510901 5 179956302 [T/C] NM_015455 CNOT6 EXON Missense_P9L exm510921 5 179992882 [A/G] NM_015455 CNOT6 EXON Missense_G208S exm510924 5 179994184 [A/G] NM_015455 CNOT6 EXON Missense_M272V exm510925 5 179994223 [A/G] NM_015455 CNOT6 EXON Missense_I285V exm510927 5 179994859 [G/C] NM_015455 CNOT6 EXON Missense_V295L exm510933 5 179996111 [T/C] NM_015455 CNOT6 EXON Synonymous_S343S exm510938 5 179996272 [G/C] NM_015455 CNOT6 EXON Missense_S397T exm510946 5 179998326 [A/G] NM_015455 CNOT6 EXON Missense_H452R exm510951 5 180001061 [A/G] NM_015455 CNOT6 EXON Missense_H512R exm510956 5 180001168 [A/G] NM_015455 CNOT6 EXON Missense_V548I exm510966 5 180017643 [T/C] NM_052863 SCGB3A1 EXON Missense_G83D exm510978 5 180030221 [T/C] NM_182925 FLT4 EXON Missense_V1355M exm2097801 5 180030223 [T/C] NM_182925 FLT4 EXON Missense_R1354H exm2097802 5 180030244 [T/C] NM_182925 FLT4 EXON Missense_D1347G exm510984 5 180030278 [T/C] NM_182925 FLT4 EXON Missense_E1336K exm510987 5 180030322 [T/C] NM_182925 FLT4 EXON Missense_R1321Q exm510988 5 180030325 [T/C] NM_182925 FLT4 EXON Missense_R1320Q exm510989 5 180030326 [A/G] NM_182925 FLT4 EXON Missense_R1320W exm510990 5 180030328 [T/C] NM_182925 FLT4 EXON Missense_R1319Q exm510992 5 180030376 [G/C] NM_182925 FLT4 EXON Missense_G1303A exm510997 5 180035975 [T/C] NM_182925,NM_002020 FLT4,FLT4 EXON Missense_G1296S,Missense_G1296S exm2242335 5 180036028 [A/G] NM_182925,NM_002020 FLT4,FLT4 EXON Missense_V1278A,Missense_V1278A exm511027 5 180039606 [T/C] NM_182925,NM_002020 FLT4,FLT4 EXON Missense_R1146H,Missense_R1146H exm511050 5 180043441 [T/C] NM_182925,NM_002020 FLT4,FLT4 EXON Missense_D1049N,Missense_D1049N exm511052 5 180043973 [A/G] NM_182925,NM_002020 FLT4,FLT4 EXON Missense_P1008L,Missense_P1008L exm511058 5 180045820 [T/C] NM_182925,NM_002020 FLT4,FLT4 EXON Missense_R984Q,Missense_R984Q exm511063 5 180045911 [A/G] NM_182925,NM_002020 FLT4,FLT4 EXON Missense_P954S,Missense_P954S exm511083 5 180046710 [A/G] NM_182925,NM_002020 FLT4,FLT4 EXON Missense_H868Y,Missense_H868Y exm511107 5 180048214 [C/G] NM_182925,NM_002020 FLT4,FLT4 EXON Missense_L687V,Missense_L687V exm511114 5 180048635 [T/C] NM_182925,NM_002020 FLT4,FLT4 EXON Missense_V643I,Missense_V643I exm511116 5 180048651 [C/G] NM_182925,NM_002020 FLT4,FLT4 EXON Missense_S637R,Missense_S637R exm511127 5 180049808 [T/C] NM_182925,NM_002020 FLT4,FLT4 EXON Missense_N527S,Missense_N527S exm511129 5 180050951 [A/G] NM_182925,NM_002020 FLT4,FLT4 EXON Missense_V511A,Missense_V511A exm511134 5 180051003 [T/C] NM_182925,NM_002020 FLT4,FLT4 EXON Missense_T494A,Missense_T494A exm511142 5 180052875 [T/C] NM_182925,NM_002020 FLT4,FLT4 EXON Missense_R472H,Missense_R472H exm511146 5 180052967 [G/C] NM_182925,NM_002020 FLT4,FLT4 EXON Missense_Q441H,Missense_Q441H exm511151 5 180053021 [C/G] NM_182925,NM_002020 FLT4,FLT4 EXON Missense_Q423H,Missense_Q423H exm511157 5 180053236 [T/C] NM_182925,NM_002020 FLT4,FLT4 EXON Missense_R378H,Missense_R378H exm511164 5 180055936 [T/A] NM_182925,NM_002020 FLT4,FLT4 EXON Missense_E350V,Missense_E350V exm511211 5 180057650 [T/C] NM_182925,NM_002020 FLT4,FLT4 EXON Missense_H102R,Missense_H102R exm511212 5 180057702 [T/C] NM_182925,NM_002020 FLT4,FLT4 EXON Missense_E85K,Missense_E85K exm511216 5 180057722 [A/G] NM_182925,NM_002020 FLT4,FLT4 EXON Missense_T78M,Missense_T78M exm511217 5 180057729 [T/C] NM_182925,NM_002020 FLT4,FLT4 EXON Missense_E76K,Missense_E76K exm511218 5 180057744 [T/C] NM_182925,NM_002020 FLT4,FLT4 EXON Missense_G71R,Missense_G71R exm2257155 5 180057754 [T/C] NM_182925,NM_002020 FLT4,FLT4 EXON Synonymous_A67A,Synonymous_A67A exm511221 5 180057783 [T/C] NM_182925,NM_002020 FLT4,FLT4 EXON Missense_E58K,Missense_E58K exm511231 5 180058761 [A/C] NM_182925,NM_002020 FLT4,FLT4 EXON Missense_S26A,Missense_S26A exm511232 5 180058762 [T/G] NM_182925,NM_002020 FLT4,FLT4 EXON Nonsense_Y25X,Nonsense_Y25X exm511243 5 180166140 [A/C] NM_001001657 OR2Y1 EXON Missense_G307C exm511248 5 180166256 [T/C] NM_001001657 OR2Y1 EXON Missense_R268H exm511249 5 180166296 [T/C] NM_001001657 OR2Y1 EXON Missense_I255V exm511251 5 180166361 [T/C] NM_001001657 OR2Y1 EXON Missense_R233H exm511256 5 180166461 [G/C] NM_001001657 OR2Y1 EXON Missense_V200L exm511263 5 180166599 [T/C] NM_001001657 OR2Y1 EXON Missense_V154M exm511266 5 180166677 [A/G] NM_001001657 OR2Y1 EXON Missense_R128C exm2097914 5 180166742 [A/G] NM_001001657 OR2Y1 EXON Missense_A106V exm511278 5 180166866 [A/G] NM_001001657 OR2Y1 EXON Missense_H65Y exm511280 5 180166877 [T/A] NM_001001657 OR2Y1 EXON Missense_F61Y exm2257156 5 180166927 [T/G] NM_001001657 OR2Y1 EXON Synonymous_I44I exm511287 5 180166985 [T/G] NM_001001657 OR2Y1 EXON Missense_P25H exm2097919 5 180166997 [A/G] NM_001001657 OR2Y1 EXON Missense_P21L exm511288 5 180167058 [A/T] NM_001001657 OR2Y1 EXON Missense_M1L exm-rs12517906 5 180170819 [T/C] exm2266146 5 180199307 [A/G] exm511291 5 180218668 [A/G] NM_001114618,NM_001114617,NM_001114620,NM_002406,NM_001114619 MGAT1,MGAT1,MGAT1,MGAT1,MGAT1 EXON Missense_L435P,Missense_L435P,Missense_L435P,Missense_L435P,Missense_L435P exm511308 5 180218888 [T/C] NM_001114618,NM_001114617,NM_001114620,NM_002406,NM_001114619 MGAT1,MGAT1,MGAT1,MGAT1,MGAT1 EXON Missense_V362I,Missense_V362I,Missense_V362I,Missense_V362I,Missense_V362I exm511340 5 180219763 [T/C] NM_001114618,NM_001114617,NM_001114620,NM_002406,NM_001114619 MGAT1,MGAT1,MGAT1,MGAT1,MGAT1 EXON Missense_G70E,Missense_G70E,Missense_G70E,Missense_G70E,Missense_G70E exm511344 5 180219838 [T/C] NM_001114618,NM_001114617,NM_001114620,NM_002406,NM_001114619 MGAT1,MGAT1,MGAT1,MGAT1,MGAT1 EXON Missense_G45D,Missense_G45D,Missense_G45D,Missense_G45D,Missense_G45D exm511345 5 180219842 [T/C] NM_001114618,NM_001114617,NM_001114620,NM_002406,NM_001114619 MGAT1,MGAT1,MGAT1,MGAT1,MGAT1 EXON Missense_D44N,Missense_D44N,Missense_D44N,Missense_D44N,Missense_D44N exm-rs655601 5 180226673 [A/C] NM_001114618,NM_001114617,NM_001114620,NM_002406,NM_001114619 MGAT1,MGAT1,MGAT1,MGAT1,MGAT1 Silent,Silent,Silent,Silent,Silent exm511357 5 180275896 [A/G] NM_001172638,NM_152283 ZFP62,ZFP62 EXON Missense_I889T,Missense_S834P exm511359 5 180275946 [T/C] NM_001172638,NM_152283 ZFP62,ZFP62 EXON Synonymous_X872X,Missense_N817S exm511368 5 180276345 [A/G] NM_001172638,NM_152283 ZFP62,ZFP62 EXON Synonymous_Y739Y,Missense_I684T exm511369 5 180276402 [T/C] NM_001172638,NM_152283 ZFP62,ZFP62 EXON Synonymous_Q720Q,Missense_R665K exm511374 5 180276690 [T/C] NM_001172638,NM_152283 ZFP62,ZFP62 EXON Synonymous_P624P,Missense_R569Q exm511400 5 180278088 [C/G] NM_001172638,NM_152283 ZFP62,ZFP62 EXON Missense_C158W,Missense_A103G exm511401 5 180278091 [T/C] NM_001172638,NM_152283 ZFP62,ZFP62 EXON Synonymous_Q157Q,Missense_N102S exm511406 5 180278254 [T/C] NM_001172638,NM_152283 ZFP62,ZFP62 EXON Missense_Y103C,Missense_I48V exm511408 5 180278393 [G/C] NM_001172638,NM_152283 ZFP62,ZFP62 EXON Missense_A57P,Missense_M1I exm511409 5 180326326 [A/G] NM_001159709,NM_001159707,NM_001159708,NM_001040462,NM_024850 BTNL8,BTNL8,BTNL8,BTNL8,BTNL8 EXON Silent,Missense_S6G,Missense_S6G,Missense_S6G,Missense_S6G exm511422 5 180335697 [A/G] NM_001159709,NM_001159707,NM_001159708,NM_001040462,NM_024850 BTNL8,BTNL8,BTNL8,BTNL8,BTNL8 EXON Silent,Silent,Missense_R54Q,Missense_R54Q,Missense_R54Q exm2097943 5 180335706 [A/G] NM_001159709,NM_001159707,NM_001159708,NM_001040462,NM_024850 BTNL8,BTNL8,BTNL8,BTNL8,BTNL8 EXON Silent,Silent,Missense_R57K,Missense_R57K,Missense_R57K exm511423 5 180335720 [A/G] NM_001159709,NM_001159707,NM_001159708,NM_001040462,NM_024850 BTNL8,BTNL8,BTNL8,BTNL8,BTNL8 EXON Silent,Silent,Missense_S62G,Missense_S62G,Missense_S62G exm511428 5 180335744 [A/G] NM_001159709,NM_001159707,NM_001159708,NM_001040462,NM_024850 BTNL8,BTNL8,BTNL8,BTNL8,BTNL8 EXON Silent,Silent,Missense_G70R,Missense_G70R,Missense_G70R exm511431 5 180335813 [A/G] NM_001159709,NM_001159707,NM_001159708,NM_001040462,NM_024850 BTNL8,BTNL8,BTNL8,BTNL8,BTNL8 EXON Silent,Silent,Missense_A93T,Missense_A93T,Missense_A93T exm511440 5 180338368 [A/G] NM_001159709,NM_001159707,NM_001159708,NM_001040462,NM_024850,NM_001159710 BTNL8,BTNL8,BTNL8,BTNL8,BTNL8,BTNL8 EXON Missense_T18A,Missense_T27A,Missense_T143A,Missense_T143A,Missense_T143A,Silent exm511444 5 180338426 [A/G] NM_001159709,NM_001159707,NM_001159708,NM_001040462,NM_024850,NM_001159710 BTNL8,BTNL8,BTNL8,BTNL8,BTNL8,BTNL8 EXON Missense_R37Q,Missense_R46Q,Missense_R162Q,Missense_R162Q,Missense_R162Q,Silent exm511449 5 180338468 [T/C] NM_001159709,NM_001159707,NM_001159708,NM_001040462,NM_024850,NM_001159710 BTNL8,BTNL8,BTNL8,BTNL8,BTNL8,BTNL8 EXON Missense_S51F,Missense_S60F,Missense_S176F,Missense_S176F,Missense_S176F,Silent exm511450 5 180338477 [T/C] NM_001159709,NM_001159707,NM_001159708,NM_001040462,NM_024850,NM_001159710 BTNL8,BTNL8,BTNL8,BTNL8,BTNL8,BTNL8 EXON Missense_S54F,Missense_S63F,Missense_S179F,Missense_S179F,Missense_S179F,Silent exm511454 5 180338566 [T/C] NM_001159709,NM_001159707,NM_001159708,NM_001040462,NM_024850,NM_001159710 BTNL8,BTNL8,BTNL8,BTNL8,BTNL8,BTNL8 EXON Missense_R84W,Missense_R93W,Missense_R209W,Missense_R209W,Missense_R209W,Missense_R25W exm511455 5 180338584 [T/C] NM_001159709,NM_001159707,NM_001159708,NM_001040462,NM_024850,NM_001159710 BTNL8,BTNL8,BTNL8,BTNL8,BTNL8,BTNL8 EXON Nonsense_R90X,Nonsense_R99X,Nonsense_R215X,Nonsense_R215X,Nonsense_R215X,Nonsense_R31X exm511456 5 180338602 [A/G] NM_001159709,NM_001159707,NM_001159708,NM_001040462,NM_024850,NM_001159710 BTNL8,BTNL8,BTNL8,BTNL8,BTNL8,BTNL8 EXON Missense_V96I,Missense_V105I,Missense_V221I,Missense_V221I,Missense_V221I,Missense_V37I exm511459 5 180374523 [A/G] NM_001159709,NM_001159707,NM_001159708,NM_001040462,NM_024850,NM_001159710 BTNL8,BTNL8,BTNL8,BTNL8,BTNL8,BTNL8 EXON Missense_E104K,Missense_E113K,Missense_E229K,Missense_E229K,Missense_E229K,Missense_E45K exm511461 5 180374575 [A/G] NM_001159709,NM_001159707,NM_001159708,NM_001040462,NM_024850,NM_001159710 BTNL8,BTNL8,BTNL8,BTNL8,BTNL8,BTNL8 EXON Missense_G121D,Missense_G130D,Missense_G246D,Missense_G246D,Missense_G246D,Missense_G62D exm2242346 5 180374631 [T/C] NM_001159709,NM_001159707,NM_001159708,NM_001040462,NM_024850,NM_001159710 BTNL8,BTNL8,BTNL8,BTNL8,BTNL8,BTNL8 EXON Silent,Silent,Nonsense_R265X,Silent,Nonsense_R265X,Silent exm511467 5 180375368 [A/G] NM_001159709,NM_001159707,NM_001159708,NM_001040462,NM_024850,NM_001159710 BTNL8,BTNL8,BTNL8,BTNL8,BTNL8,BTNL8 EXON Synonymous_A142A,Synonymous_A151A,Silent,Synonymous_A267A,Missense_G311R,Synonymous_A83A exm511471 5 180376249 [T/C] NM_001159709,NM_001159707,NM_001159708,NM_001040462,NM_024850,NM_001159710 BTNL8,BTNL8,BTNL8,BTNL8,BTNL8,BTNL8 EXON Synonymous_D157D,Synonymous_D166D,Missense_R319C,Synonymous_D282D,Missense_R326C,Synonymous_D98D exm511553 5 180431750 [T/C] NM_197975 BTNL3 EXON Missense_R284W exm511564 5 180432564 [T/G] NM_197975 BTNL3 EXON Missense_G365W exm511568 5 180432622 [C/G] NM_197975 BTNL3 EXON Missense_T384R exm511571 5 180432662 [C/G] NM_197975 BTNL3 EXON Missense_S397R exm511577 5 180432747 [G/C] NM_197975 BTNL3 EXON Missense_Q426E exm511580 5 180432813 [A/G] NM_197975 BTNL3 EXON Missense_A448T exm511581 5 180432814 [T/C] NM_197975 BTNL3 EXON Missense_A448V exm2270175 5 180469713 [T/C] NM_152547 BTNL9 Silent exm511587 5 180472512 [T/C] NM_152547 BTNL9 EXON Missense_P8L exm511591 5 180472563 [A/G] NM_152547 BTNL9 EXON Missense_H25R exm511627 5 180477286 [A/G] NM_152547 BTNL9 EXON Missense_R218Q exm511629 5 180477312 [A/G] NM_152547 BTNL9 EXON Missense_V227I exm511639 5 180480275 [T/C] NM_152547 BTNL9 EXON Missense_A271V exm511652 5 180482437 [T/G] NM_152547 BTNL9 EXON Missense_K304N exm511662 5 180482997 [T/C] NM_152547 BTNL9 EXON Missense_R313W exm511666 5 180485353 [A/G] NM_152547 BTNL9 EXON Synonymous_E319E exm511682 5 180486596 [T/C] NM_152547 BTNL9 EXON Missense_R448C exm511685 5 180486655 [A/C] NM_152547 BTNL9 EXON Missense_D467E exm2257158 5 180486811 [T/C] NM_152547 BTNL9 EXON Synonymous_D519D exm511696 5 180486833 [T/C] NM_152547 BTNL9 EXON Missense_P527S exm511701 5 180582003 [G/C] NM_206880 OR2V2 EXON Missense_H21D exm511705 5 180582043 [T/C] NM_206880 OR2V2 EXON Missense_A34V exm511720 5 180582408 [A/G] NM_206880 OR2V2 EXON Missense_D156N exm511721 5 180582411 [C/G] NM_206880 OR2V2 EXON Missense_G157R exm511726 5 180582568 [T/C] NM_206880 OR2V2 EXON Missense_L209P exm511728 5 180582604 [A/G] NM_206880 OR2V2 EXON Missense_H221R exm2098037 5 180582629 [A/G] NM_206880 OR2V2 EXON Missense_M229I exm511740 5 180582871 [A/G] NM_206880 OR2V2 EXON Missense_R310K exm-rs1279750 5 180595138 [T/C] exm2266052 5 180597660 [A/G] exm511746 5 180622167 [G/C] NM_203293,NM_203294,NM_203295,NM_203297,NM_203296 TRIM7,TRIM7,TRIM7,TRIM7,TRIM7 EXON Missense_X512S,Missense_X304S,Missense_X304S,Missense_X330S,Missense_X304S exm511747 5 180622180 [A/G] NM_203293,NM_203294,NM_203295,NM_203297,NM_203296 TRIM7,TRIM7,TRIM7,TRIM7,TRIM7 EXON Nonsense_R508X,Nonsense_R300X,Nonsense_R300X,Nonsense_R326X,Nonsense_R300X exm511748 5 180622194 [A/G] NM_203293,NM_203294,NM_203295,NM_203297,NM_203296 TRIM7,TRIM7,TRIM7,TRIM7,TRIM7 EXON Missense_T503M,Missense_T295M,Missense_T295M,Missense_T321M,Missense_T295M exm511766 5 180622575 [T/G] NM_203293,NM_203294,NM_203295,NM_203297,NM_203296 TRIM7,TRIM7,TRIM7,TRIM7,TRIM7 EXON Missense_H376P,Missense_H168P,Missense_H168P,Missense_H194P,Missense_H168P exm511767 5 180622615 [T/C] NM_203293,NM_203294,NM_203295,NM_203297,NM_203296 TRIM7,TRIM7,TRIM7,TRIM7,TRIM7 EXON Missense_G363S,Missense_G155S,Missense_G155S,Missense_G181S,Missense_G155S exm511776 5 180625708 [T/C] NM_203293,NM_203294,NM_203295,NM_203297,NM_203296 TRIM7,TRIM7,TRIM7,TRIM7,TRIM7 EXON Missense_M324V,Missense_M116V,Missense_M116V,Missense_M142V,Missense_M116V exm2098057 5 180625721 [A/C] NM_203293,NM_203294,NM_203295,NM_203297,NM_203296 TRIM7,TRIM7,TRIM7,TRIM7,TRIM7 EXON Missense_F319L,Missense_F111L,Missense_F111L,Missense_F137L,Missense_F111L exm511777 5 180625767 [A/G] NM_203293,NM_203294,NM_203295,NM_203297,NM_203296 TRIM7,TRIM7,TRIM7,TRIM7,TRIM7 EXON Missense_S304F,Missense_S96F,Missense_S96F,Missense_S122F,Missense_S96F exm511780 5 180626104 [A/G] NM_203293,NM_203294,NM_203295,NM_203297,NM_203296 TRIM7,TRIM7,TRIM7,TRIM7,TRIM7 EXON Missense_T288M,Missense_T80M,Missense_T80M,Missense_T106M,Missense_T80M exm511781 5 180626113 [A/C] NM_203293,NM_203294,NM_203295,NM_203297,NM_203296 TRIM7,TRIM7,TRIM7,TRIM7,TRIM7 EXON Missense_F285C,Missense_F77C,Missense_F77C,Missense_F103C,Missense_F77C exm511785 5 180626899 [C/G] NM_203293,NM_203294,NM_203295,NM_203297,NM_203296 TRIM7,TRIM7,TRIM7,TRIM7,TRIM7 EXON Missense_S267R,Missense_S59R,Missense_S59R,Missense_S85R,Missense_S59R exm511787 5 180626927 [A/G] NM_203293,NM_203294,NM_203295,NM_203297,NM_203296 TRIM7,TRIM7,TRIM7,TRIM7,TRIM7 EXON Missense_V258A,Missense_V50A,Missense_V50A,Missense_V76A,Missense_V50A exm511792 5 180627027 [T/C] NM_203293,NM_203294,NM_203295,NM_203297,NM_203296 TRIM7,TRIM7,TRIM7,TRIM7,TRIM7 EXON Missense_A225T,Missense_A17T,Missense_A17T,Missense_A43T,Missense_A17T exm511793 5 180627048 [T/C] NM_203293,NM_203294,NM_203295,NM_203297,NM_203296 TRIM7,TRIM7,TRIM7,TRIM7,TRIM7 EXON Missense_A218T,Missense_A10T,Missense_A10T,Missense_A36T,Missense_A10T exm511801 5 180630510 [A/G] NM_203293,NM_203294,NM_203295,NM_203296,NM_033342 TRIM7,TRIM7,TRIM7,TRIM7,TRIM7 EXON Silent,Silent,Silent,Silent,Missense_I218T exm511802 5 180630512 [C/G] NM_203293,NM_203294,NM_203295,NM_203296,NM_033342 TRIM7,TRIM7,TRIM7,TRIM7,TRIM7 EXON Silent,Silent,Silent,Silent,Missense_D217E exm511817 5 180632059 [A/C] NM_203293,NM_033342 TRIM7,TRIM7 EXON Missense_A18S,Missense_A18S exm511827 5 180651231 [A/G] NM_201627,NR_045218,NM_033549 TRIM41,TRIM41,TRIM41 EXON Missense_A78T,Silent,Missense_A78T exm511895 5 180660683 [T/C] NM_201627,NR_045218,NM_033549 TRIM41,TRIM41,TRIM41 EXON Missense_P404L,Silent,Missense_P404L exm511904 5 180661174 [T/C] NM_201627,NR_045218,NM_033549 TRIM41,TRIM41,TRIM41 EXON Missense_V431A,Silent,Missense_V431A exm511907 5 180661188 [A/G] NM_201627,NR_045218,NM_033549 TRIM41,TRIM41,TRIM41 EXON Missense_D436N,Silent,Missense_D436N exm511916 5 180661274 [C/G] NM_201627,NR_045218,NM_033549 TRIM41,TRIM41,TRIM41 EXON Missense_D464E,Silent,Missense_D464E exm511919 5 180661294 [T/C] NM_201627,NR_045218,NM_033549 TRIM41,TRIM41,TRIM41 EXON Missense_A471V,Silent,Missense_A471V exm511942 5 180661648 [A/G] NM_201627,NR_045218,NM_033549 TRIM41,TRIM41,TRIM41 EXON Silent,Silent,Missense_R589H exm511944 5 180661716 [T/C] NM_201627,NR_045218,NM_033549 TRIM41,TRIM41,TRIM41 EXON Silent,Silent,Missense_R612C exm511956 5 180661948 [C/G] NM_201627,NR_045218,NM_033549 TRIM41,TRIM41,TRIM41 EXON Missense_S495C,Silent,Silent exm511959 5 180661980 [T/C] NM_201627,NR_045218,NM_033549 TRIM41,TRIM41,TRIM41 EXON Missense_Y506H,Silent,Silent exm511960 5 180661981 [A/G] NM_201627,NR_045218,NM_033549 TRIM41,TRIM41,TRIM41 EXON Missense_Y506C,Silent,Silent exm511966 5 180662357 [A/G] NM_201627,NR_045218,NM_033549 TRIM41,TRIM41,TRIM41 EXON Missense_R512Q,Silent,Silent exm2098116 5 180665168 [G/C] NM_006098 GNB2L1 EXON Missense_I236M exm2270274 5 180671189 [T/G] exm512025 5 180684456 [T/C] NM_032765 TRIM52 EXON Missense_I285V exm512028 5 180684497 [T/C] NM_032765 TRIM52 Silent exm512032 5 180687012 [T/C] NM_032765 TRIM52 EXON Missense_Q268R exm512033 5 180687022 [T/C] NM_032765 TRIM52 EXON Missense_E265K exm512040 5 180687255 [T/C] NM_032765 TRIM52 EXON Missense_R187Q exm512050 5 180687408 [A/G] NM_032765 TRIM52 EXON Missense_L136P exm512057 5 180687517 [T/C] NM_032765 TRIM52 EXON Missense_D100N exm512062 5 180687760 [T/C] NM_032765 TRIM52 EXON Missense_V19M exm512075 6 304637 [A/G] NM_020185 DUSP22 EXON Missense_G11S exm2120228 6 304646 [A/G] NM_020185 DUSP22 EXON Missense_I14V exm512078 6 311891 [A/G] NM_020185 DUSP22 EXON Missense_A23T exm512097 6 345893 [T/G] NM_020185 DUSP22 EXON Missense_E76D exm512099 6 345896 [C/G] NM_020185 DUSP22 EXON Missense_C77W exm512102 6 345903 [T/C] NM_020185 DUSP22 EXON Missense_R80C exm512103 6 345904 [A/G] NM_020185 DUSP22 EXON Missense_R80H exm512116 6 348125 [A/G] NM_020185 DUSP22 EXON Missense_V96M exm512120 6 348155 [A/G] NM_020185 DUSP22 EXON Missense_V106I exm512121 6 348195 [A/G] NM_020185 DUSP22 EXON Missense_R119H exm512122 6 348224 [A/G] NM_020185 DUSP22 EXON Missense_V129M exm512124 6 348266 [A/G] NM_020185 DUSP22 EXON Missense_V143I exm512127 6 348780 [T/G] NM_020185 DUSP22 EXON Missense_W149C exm512128 6 348810 [T/G] NM_020185 DUSP22 EXON Missense_L159F exm-rs1033180 6 383546 [T/C] exm512152 6 394866 [C/G] NR_046000,NM_001195286,NM_002460 IRF4,IRF4,IRF4 EXON Silent,Missense_P88A,Missense_P88A exm512153 6 394867 [A/C] NR_046000,NM_001195286,NM_002460 IRF4,IRF4,IRF4 EXON Silent,Missense_P88Q,Missense_P88Q exm512155 6 394918 [A/G] NR_046000,NM_001195286,NM_002460 IRF4,IRF4,IRF4 EXON Silent,Missense_N105S,Missense_N105S exm-rs12203592 6 396321 [T/C] NR_046000,NM_001195286,NM_002460 IRF4,IRF4,IRF4 Silent,Silent,Silent exm512177 6 398878 [A/G] NR_046000,NM_001195286,NM_002460 IRF4,IRF4,IRF4 EXON Silent,Missense_A229T,Missense_A230T exm512187 6 401527 [C/G] NR_046000,NM_001195286,NM_002460 IRF4,IRF4,IRF4 EXON Silent,Missense_D282E,Missense_D283E exm512188 6 401571 [A/G] NR_046000,NM_001195286,NM_002460 IRF4,IRF4,IRF4 EXON Silent,Missense_N297S,Missense_N298S exm512191 6 401700 [T/C] NR_046000,NM_001195286,NM_002460 IRF4,IRF4,IRF4 EXON Silent,Missense_A340V,Missense_A341V exm512201 6 405130 [T/C] NR_046000,NM_001195286,NM_002460 IRF4,IRF4,IRF4 EXON Silent,Synonymous_H403H,Synonymous_H404H exm512205 6 407474 [A/G] NR_046000,NM_001195286,NM_002460 IRF4,IRF4,IRF4 EXON Silent,Missense_R410K,Missense_R411K exm-rs872071 6 411064 [A/G] NR_046000,NM_001195286,NM_002460 IRF4,IRF4,IRF4 EXON Silent,Silent,Silent exm-rs9378805 6 417727 [A/C] exm2270276 6 431891 [T/C] exm-rs1540771 6 466033 [T/C] exm-rs12210050 6 475489 [T/C] exm512223 6 491150 [A/C] NM_018303,NR_073064 EXOC2,EXOC2 EXON Missense_A866S,Silent exm512226 6 497417 [T/C] NM_018303,NR_073064 EXOC2,EXOC2 EXON Missense_S837G,Silent exm512229 6 499650 [T/C] NM_018303,NR_073064 EXOC2,EXOC2 EXON Missense_A811T,Silent exm-rs6918152 6 542159 [A/G] NM_018303,NR_073064 EXOC2,EXOC2 Silent,Silent exm512236 6 549199 [G/C] NM_018303,NR_073064 EXOC2,EXOC2 EXON Missense_F738L,Silent exm512254 6 564041 [A/G] NM_018303,NR_073064 EXOC2,EXOC2 EXON Missense_T594M,Silent exm512255 6 564063 [T/C] NM_018303,NR_073064 EXOC2,EXOC2 EXON Missense_V587I,Silent exm512273 6 564659 [T/C] NM_018303,NR_073064 EXOC2,EXOC2 EXON Missense_R518H,Silent exm512288 6 572644 [A/G] NM_018303,NR_073064 EXOC2,EXOC2 EXON Missense_T440M,Silent exm512289 6 576760 [T/C] NM_018303,NR_073064 EXOC2,EXOC2 EXON Missense_D439N,Silent exm512320 6 619451 [A/G] NM_018303,NR_073064 EXOC2,EXOC2 EXON Missense_I172T,Silent exm512322 6 619507 [A/G] NM_018303,NR_073064 EXOC2,EXOC2 EXON Synonymous_F153F,Silent exm2257886 6 619507 [A/G] NM_018303,NR_073064 EXOC2,EXOC2 EXON Synonymous_F153F,Silent exm512329 6 633019 [T/C] NM_018303,NR_073064 EXOC2,EXOC2 EXON Missense_D73N,Silent exm512336 6 656143 [A/C] NM_018303,NR_073064,NM_148959 EXOC2,EXOC2,HUS1B EXON Silent,Silent,Missense_D268Y exm2129819 6 656256 [T/C] NM_018303,NR_073064,NM_148959 EXOC2,EXOC2,HUS1B EXON Silent,Silent,Missense_R230Q exm512345 6 656343 [T/C] NM_018303,NR_073064,NM_148959 EXOC2,EXOC2,HUS1B EXON Silent,Silent,Missense_Q201R exm512349 6 656380 [T/C] NM_018303,NR_073064,NM_148959 EXOC2,EXOC2,HUS1B EXON Silent,Silent,Missense_M189V exm512351 6 656410 [T/C] NM_018303,NR_073064,NM_148959 EXOC2,EXOC2,HUS1B EXON Silent,Silent,Missense_V179M exm512352 6 656416 [T/C] NM_018303,NR_073064,NM_148959 EXOC2,EXOC2,HUS1B EXON Silent,Silent,Missense_S177G exm512355 6 656464 [A/G] NM_018303,NR_073064,NM_148959 EXOC2,EXOC2,HUS1B EXON Silent,Silent,Missense_R161C exm512356 6 656473 [A/G] NM_018303,NR_073064,NM_148959 EXOC2,EXOC2,HUS1B EXON Silent,Silent,Missense_R158C exm512358 6 656555 [T/G] NM_018303,NR_073064,NM_148959 EXOC2,EXOC2,HUS1B EXON Silent,Silent,Missense_H130Q exm512369 6 656694 [C/G] NM_018303,NR_073064,NM_148959 EXOC2,EXOC2,HUS1B EXON Silent,Silent,Missense_A84G exm2266150 6 854954 [A/G] exm2266151 6 1295151 [A/G] exm512413 6 1313730 [T/C] NM_033260 FOXQ1 EXON Missense_A264V exm-rs9502893 6 1340189 [T/C] exm2274119 6 1390576 [A/G] NM_001452 FOXF2 EXON Missense_A132T exm512480 6 1395062 [G/C] NM_001452 FOXF2 EXON Missense_V435L exm-rs9378305 6 1703290 [T/C] NM_001500,NM_001253846 GMDS,GMDS Silent,Silent exm2270277 6 1901495 [T/C] NM_001500,NM_001253846 GMDS,GMDS Silent,Silent exm512578 6 1961012 [C/G] NM_001500,NM_001253846 GMDS,GMDS EXON Synonymous_P178P,Synonymous_P148P exm2257679 6 1961012 [C/G] NM_001500,NM_001253846 GMDS,GMDS EXON Synonymous_P178P,Synonymous_P148P exm2266292 6 2145136 [A/G] NM_001500,NM_001253846 GMDS,GMDS Silent,Silent exm-rs9378688 6 2235633 [A/G] NM_001500 GMDS Silent exm512596 6 2245608 [T/C] NM_001500 GMDS EXON Missense_G17S exm2270278 6 2355675 [T/C] NR_046229 LOC100508120 Silent exm512603 6 2623699 [T/C] NM_152554 C6orf195 EXON Missense_R120G exm2243609 6 2623741 [T/C] NM_152554 C6orf195 EXON Missense_T106A exm512606 6 2623773 [A/G] NM_152554 C6orf195 EXON Missense_P95L exm512614 6 2623861 [G/C] NM_152554 C6orf195 EXON Missense_V66L exm512619 6 2623927 [T/C] NM_152554 C6orf195 EXON Missense_A44T exm512621 6 2623930 [A/G] NM_152554 C6orf195 EXON Missense_P43S exm512622 6 2623942 [A/G] NM_152554 C6orf195 EXON Missense_P39S exm512623 6 2623960 [T/C] NM_152554 C6orf195 EXON Missense_M33V exm512628 6 2624044 [T/G] NM_152554 C6orf195 EXON Missense_L5I exm512629 6 2624053 [A/T] NM_152554 C6orf195 EXON Missense_I2F exm512638 6 2675282 [T/C] NM_001012418 MYLK4 EXON Missense_Q373R exm512652 6 2678587 [A/G] NM_001012418 MYLK4 EXON Missense_F303L exm512665 6 2679642 [T/C] NM_001012418 MYLK4 EXON Synonymous_R253R exm2119173 6 2680526 [T/C] NM_001012418 MYLK4 Silent exm512677 6 2683362 [T/C] NM_001012418 MYLK4 EXON Missense_D194N exm512688 6 2685775 [A/G] NM_001012418 MYLK4 EXON Missense_T126M exm512697 6 2693062 [A/G] NM_001012418 MYLK4 EXON Missense_T64M exm512700 6 2693092 [A/G] NM_001012418 MYLK4 EXON Missense_A54V exm512709 6 2765899 [G/C] NM_130395,NM_020135 WRNIP1,WRNIP1 EXON Missense_L15V,Missense_L15V exm512738 6 2766560 [T/C] NM_130395,NM_020135 WRNIP1,WRNIP1 EXON Missense_T235M,Missense_T235M exm512745 6 2766613 [T/C] NM_130395,NM_020135 WRNIP1,WRNIP1 EXON Missense_R253C,Missense_R253C exm512746 6 2766614 [T/G] NM_130395,NM_020135 WRNIP1,WRNIP1 EXON Missense_R253L,Missense_R253L exm512759 6 2768965 [A/G] NM_130395,NM_020135 WRNIP1,WRNIP1 EXON Missense_H288R,Missense_H288R exm512760 6 2768995 [T/C] NM_130395,NM_020135 WRNIP1,WRNIP1 EXON Missense_T298I,Missense_T298I exm512771 6 2770498 [T/A] NM_130395,NM_020135 WRNIP1,WRNIP1 EXON Missense_T362S,Missense_T387S exm512775 6 2770537 [A/G] NM_130395,NM_020135 WRNIP1,WRNIP1 EXON Missense_V375I,Missense_V400I exm512776 6 2770553 [A/G] NM_130395,NM_020135 WRNIP1,WRNIP1 EXON Missense_R380H,Missense_R405H exm512780 6 2779502 [T/C] NM_130395,NM_020135 WRNIP1,WRNIP1 EXON Missense_A396V,Missense_A421V exm512784 6 2779607 [A/G] NM_130395,NM_020135 WRNIP1,WRNIP1 EXON Missense_S431N,Missense_S456N exm512787 6 2779708 [A/G] NM_130395,NM_020135 WRNIP1,WRNIP1 EXON Missense_I465V,Missense_I490V exm512789 6 2779723 [A/G] NM_130395,NM_020135 WRNIP1,WRNIP1 EXON Missense_A470T,Missense_A495T exm512796 6 2783763 [A/G] NM_130395,NM_020135 WRNIP1,WRNIP1 EXON Missense_R512Q,Missense_R537Q exm512806 6 2785311 [A/G] NM_130395,NM_020135 WRNIP1,WRNIP1 EXON Missense_N573S,Missense_N598S exm512813 6 2785358 [A/G] NM_130395,NM_020135 WRNIP1,WRNIP1 EXON Missense_V589M,Missense_V614M exm512819 6 2785484 [C/G] NM_130395,NM_020135 WRNIP1,WRNIP1 EXON Missense_G631R,Missense_G656R exm512834 6 2834114 [A/G] NR_073112,NR_073111,NM_030666 SERPINB1,SERPINB1,SERPINB1 EXON Silent,Silent,Missense_R290C exm512837 6 2834168 [T/C] NR_073112,NR_073111,NM_030666 SERPINB1,SERPINB1,SERPINB1 EXON Silent,Silent,Missense_S272G exm512845 6 2836116 [G/C] NR_073112,NR_073111,NM_030666 SERPINB1,SERPINB1,SERPINB1 EXON Silent,Silent,Missense_E237Q exm512850 6 2836155 [C/G] NR_073112,NR_073111,NM_030666 SERPINB1,SERPINB1,SERPINB1 EXON Silent,Silent,Missense_E224Q exm512867 6 2836460 [A/G] NR_073112,NR_073111,NM_030666 SERPINB1,SERPINB1,SERPINB1 EXON Silent,Silent,Missense_S150L exm512880 6 2838820 [T/C] NR_073112,NR_073111,NM_030666 SERPINB1,SERPINB1,SERPINB1 EXON Silent,Silent,Missense_N90S exm512882 6 2838844 [A/G] NR_073112,NR_073111,NM_030666 SERPINB1,SERPINB1,SERPINB1 EXON Silent,Silent,Missense_A82V exm512908 6 2890501 [T/C] NM_004155 SERPINB9 EXON Missense_M343V exm2119774 6 2890543 [A/C] NM_004155 SERPINB9 EXON Missense_A329S exm512916 6 2890726 [A/G] NM_004155 SERPINB9 EXON Missense_L268F exm512929 6 2892152 [G/C] NM_004155 SERPINB9 EXON Missense_R213P exm512936 6 2893647 [A/G] NM_004155 SERPINB9 EXON Nonsense_Q189X exm512940 6 2893754 [A/G] NM_004155 SERPINB9 EXON Missense_I153T exm512943 6 2895666 [G/C] NM_004155 SERPINB9 EXON Missense_S128C exm512946 6 2896296 [A/C] NM_004155 SERPINB9 EXON Missense_Q99H exm512947 6 2896319 [A/G] NM_004155 SERPINB9 EXON Missense_L92F exm512948 6 2896346 [C/G] NM_004155 SERPINB9 EXON Missense_Q83E exm512952 6 2900695 [T/C] NM_004155 SERPINB9 EXON Missense_A51T exm512975 6 2948627 [T/C] NM_004568,NM_001271823,NM_001271822,NM_001195291,NM_001271825,NM_001271824 SERPINB6,SERPINB6,SERPINB6,SERPINB6,SERPINB6,SERPINB6 EXON Missense_V346I,Missense_V365I,Missense_V360I,Missense_V350I,Missense_V346I,Missense_V346I exm512983 6 2948762 [T/C] NM_004568,NM_001271823,NM_001271822,NM_001195291,NM_001271825,NM_001271824 SERPINB6,SERPINB6,SERPINB6,SERPINB6,SERPINB6,SERPINB6 EXON Missense_D301N,Missense_D320N,Missense_D315N,Missense_D305N,Missense_D301N,Missense_D301N exm512993 6 2949152 [T/C] NM_004568,NM_001271823,NM_001271822,NM_001195291,NM_001271825,NM_001271824 SERPINB6,SERPINB6,SERPINB6,SERPINB6,SERPINB6,SERPINB6 EXON Missense_R242K,Missense_R261K,Missense_R256K,Missense_R246K,Missense_R242K,Missense_R242K exm513000 6 2953312 [A/T] NM_004568,NM_001271823,NM_001271822,NM_001195291,NM_001271825,NM_001271824 SERPINB6,SERPINB6,SERPINB6,SERPINB6,SERPINB6,SERPINB6 EXON Missense_E180V,Missense_E199V,Missense_E194V,Missense_E184V,Missense_E180V,Missense_E180V exm513002 6 2953394 [T/C] NM_004568,NM_001271823,NM_001271822,NM_001195291,NM_001271825,NM_001271824 SERPINB6,SERPINB6,SERPINB6,SERPINB6,SERPINB6,SERPINB6 EXON Missense_G153S,Missense_G172S,Missense_G167S,Missense_G157S,Missense_G153S,Missense_G153S exm513005 6 2954832 [T/C] NM_004568,NM_001271823,NM_001271822,NM_001195291,NM_001271825,NM_001271824 SERPINB6,SERPINB6,SERPINB6,SERPINB6,SERPINB6,SERPINB6 EXON Missense_T142A,Missense_T161A,Missense_T156A,Missense_T146A,Missense_T142A,Missense_T142A exm513007 6 2954942 [T/G] NM_004568,NM_001271823,NM_001271822,NM_001195291,NM_001271825,NM_001271824 SERPINB6,SERPINB6,SERPINB6,SERPINB6,SERPINB6,SERPINB6 EXON Missense_S105Y,Missense_S124Y,Missense_S119Y,Missense_S109Y,Missense_S105Y,Missense_S105Y exm513011 6 2955802 [T/C] NM_004568,NM_001271823,NM_001271822,NM_001195291,NM_001271825,NM_001271824 SERPINB6,SERPINB6,SERPINB6,SERPINB6,SERPINB6,SERPINB6 EXON Missense_M90V,Missense_M109V,Missense_M104V,Missense_M94V,Missense_M90V,Missense_M90V exm513019 6 2959446 [T/C] NM_004568,NM_001271823,NM_001271822,NM_001195291,NM_001271825,NM_001271824 SERPINB6,SERPINB6,SERPINB6,SERPINB6,SERPINB6,SERPINB6 EXON Missense_V41I,Missense_V60I,Missense_V55I,Missense_V45I,Missense_V41I,Missense_V41I exm513020 6 2959467 [T/C] NM_004568,NM_001271823,NM_001271822,NM_001195291,NM_001271825,NM_001271824 SERPINB6,SERPINB6,SERPINB6,SERPINB6,SERPINB6,SERPINB6 EXON Missense_M34V,Missense_M53V,Missense_M48V,Missense_M38V,Missense_M34V,Missense_M34V exm513038 6 3010298 [A/G] NM_000904 NQO2 EXON Missense_K16R exm513039 6 3010305 [C/G] NM_000904 NQO2 EXON Missense_F18L exm513041 6 3010337 [A/G] NM_000904 NQO2 EXON Missense_E29G exm513042 6 3010340 [T/C] NM_000904 NQO2 EXON Missense_L30P exm513047 6 3010390 [T/C] NM_000904 NQO2 EXON Missense_L47F exm513048 6 3010397 [T/C] NM_000904 NQO2 EXON Missense_P49L exm513056 6 3012778 [A/G] NM_000904 NQO2 EXON Missense_G58D exm513062 6 3015785 [A/G] NM_000904 NQO2 EXON Missense_V109M exm513064 6 3015818 [A/G] NM_000904 NQO2 EXON Missense_V120M exm513065 6 3015840 [T/G] NM_000904 NQO2 EXON Missense_F127C exm513070 6 3017160 [A/G] NM_000904 NQO2 EXON Missense_E154K exm513073 6 3017203 [T/G] NM_000904 NQO2 EXON Missense_F168C exm2243700 6 3019744 [T/C] NM_000904 NQO2 EXON Missense_V184A exm513076 6 3019779 [T/G] NM_000904 NQO2 EXON Missense_A196S exm2120180 6 3019863 [A/G] NM_000904 NQO2 EXON Missense_T224A exm2270279 6 3032804 [T/C] exm513101 6 3077139 [T/C] NM_003804 RIPK1 EXON Missense_F28L exm513104 6 3077184 [T/A] NM_003804 RIPK1 EXON Missense_I43F exm513109 6 3078060 [C/G] NM_003804 RIPK1 EXON Missense_R71T exm513123 6 3083337 [A/G] NM_003804 RIPK1 EXON Missense_A160T exm513133 6 3083466 [T/G] NM_003804 RIPK1 EXON Missense_A203S exm513142 6 3085504 [A/G] NM_003804 RIPK1 EXON Missense_E234K exm2243770 6 3106044 [A/T] NM_003804 RIPK1 EXON Missense_H445Q exm513168 6 3106237 [T/C] NM_003804 RIPK1 EXON Missense_Y510H exm513179 6 3111166 [T/C] NM_003804 RIPK1 EXON Missense_A569V exm2257741 6 3113381 [A/G] NM_003804 RIPK1 EXON Synonymous_T608T exm513204 6 3123967 [A/G] NM_004332,NR_026649,NR_026648,NR_026650 BPHL,BPHL,BPHL,BPHL EXON Missense_A62T,Silent,Silent,Silent exm513209 6 3127517 [T/A] NM_004332,NR_026649,NR_026648,NR_026650 BPHL,BPHL,BPHL,BPHL EXON Missense_N85Y,Silent,Silent,Silent exm513210 6 3127518 [A/G] NM_004332,NR_026649,NR_026648,NR_026650 BPHL,BPHL,BPHL,BPHL EXON Missense_N85S,Silent,Silent,Silent exm513216 6 3127644 [T/C] NM_004332,NR_026649,NR_026648,NR_026650 BPHL,BPHL,BPHL,BPHL Silent,Silent,Silent,Silent exm513217 6 3129280 [T/C] NM_004332,NR_026649,NR_026648,NR_026650 BPHL,BPHL,BPHL,BPHL EXON Missense_A127V,Silent,Silent,Silent exm2120794 6 3129287 [A/G] NM_004332,NR_026649,NR_026648,NR_026650 BPHL,BPHL,BPHL,BPHL EXON Synonymous_K129K,Silent,Silent,Silent exm513220 6 3129333 [T/G] NM_004332,NR_026649,NR_026648,NR_026650 BPHL,BPHL,BPHL,BPHL EXON Missense_A145S,Silent,Silent,Silent exm513226 6 3129402 [A/G] NM_004332,NR_026649,NR_026648,NR_026650 BPHL,BPHL,BPHL,BPHL EXON Missense_V168I,Silent,Silent,Silent exm513231 6 3137725 [A/C] NM_004332,NR_026649,NR_026648,NR_026650 BPHL,BPHL,BPHL,BPHL EXON Missense_D221A,Silent,Silent,Silent exm513235 6 3140676 [A/G] NM_004332,NR_026649,NR_026648,NR_026650 BPHL,BPHL,BPHL,BPHL EXON Missense_G241S,Silent,Silent,Silent exm513237 6 3140712 [A/G] NM_004332,NR_026649,NR_026648,NR_026650 BPHL,BPHL,BPHL,BPHL EXON Missense_D253N,Silent,Silent,Silent exm513239 6 3140742 [T/C] NM_004332,NR_026649,NR_026648,NR_026650 BPHL,BPHL,BPHL,BPHL EXON Missense_R263W,Silent,Silent,Silent exm513240 6 3140743 [A/G] NM_004332,NR_026649,NR_026648,NR_026650 BPHL,BPHL,BPHL,BPHL EXON Missense_R263Q,Silent,Silent,Silent exm513243 6 3152760 [T/C] NM_004332,NR_026649,NR_026648,NR_026650 BPHL,BPHL,BPHL,BPHL EXON Missense_L276S,Silent,Silent,Silent exm513244 6 3152763 [A/G] NM_004332,NR_026649,NR_026648,NR_026650 BPHL,BPHL,BPHL,BPHL EXON Missense_R277H,Silent,Silent,Silent exm513245 6 3152781 [A/G] NM_004332,NR_026649,NR_026648,NR_026650 BPHL,BPHL,BPHL,BPHL EXON Missense_N283S,Silent,Silent,Silent exm2270445 6 3211787 [T/C] exm513315 6 3259296 [G/C] NM_001135750,NM_001128592,NM_001128591 PSMG4,PSMG4,PSMG4 EXON Missense_L14V,Missense_L14V,Missense_L14V exm513329 6 3264487 [T/C] NM_001128592,NM_001128591 PSMG4,PSMG4 EXON Missense_W99R,Silent exm513332 6 3264526 [T/C] NM_001128592,NM_001128591 PSMG4,PSMG4 EXON Missense_L112F,Silent exm513333 6 3264527 [T/C] NM_001128592,NM_001128591 PSMG4,PSMG4 EXON Missense_L112P,Silent exm513342 6 3273339 [T/C] NM_015482,NM_021945 SLC22A23,SLC22A23 EXON Missense_G671S,Missense_G390S exm513369 6 3284195 [C/G] NM_015482,NM_021945 SLC22A23,SLC22A23 EXON Missense_V532L,Missense_V251L exm513380 6 3287093 [A/G] NM_015482,NM_021945 SLC22A23,SLC22A23 EXON Synonymous_L516L,Synonymous_L235L exm513390 6 3287260 [A/G] NM_015482,NM_021945 SLC22A23,SLC22A23 EXON Missense_P460L,Missense_P179L exm2243932 6 3324141 [T/C] NM_015482,NM_021945 SLC22A23,SLC22A23 EXON Missense_A337T,Missense_A56T exm513410 6 3324164 [T/C] NM_015482,NM_021945 SLC22A23,SLC22A23 EXON Missense_Q329R,Missense_Q48R exm2257769 6 3324169 [T/C] NM_015482,NM_021945 SLC22A23,SLC22A23 EXON Synonymous_A327A,Synonymous_A46A exm-rs4959235 6 3359337 [T/C] NM_015482,NM_021945 SLC22A23,SLC22A23 Silent,Silent exm-rs17309827 6 3433318 [T/G] NM_015482,NM_021945 SLC22A23,SLC22A23 Silent,Silent exm513426 6 3456430 [T/C] NM_015482 SLC22A23 EXON Missense_D122N exm-rs4959862 6 3717713 [T/C] exm513435 6 3727811 [G/C] NM_183373 PXDC1 EXON Missense_Q184H exm513466 6 3751669 [T/C] NM_183373 PXDC1 EXON Missense_G33S exm513487 6 3850463 [A/G] NM_012135 FAM50B EXON Missense_G140R exm513495 6 3850644 [T/C] NM_012135 FAM50B EXON Missense_T200M exm513498 6 3850730 [T/G] NM_012135 FAM50B EXON Missense_S229A exm2262124 6 3887339 [A/C] exm2257795 6 3970823 [T/C] exm513534 6 4031998 [A/G] NM_003913 PRPF4B EXON Missense_I83V exm513541 6 4032322 [T/C] NM_003913 PRPF4B EXON Missense_R191W exm513546 6 4032545 [T/C] NM_003913 PRPF4B EXON Missense_I265T exm513549 6 4032608 [A/G] NM_003913 PRPF4B EXON Missense_R286H exm513550 6 4032617 [A/G] NM_003913 PRPF4B EXON Missense_G289D exm513556 6 4032823 [A/G] NM_003913 PRPF4B EXON Missense_K358E exm513568 6 4037656 [A/G] NM_003913 PRPF4B EXON Missense_S422G exm513574 6 4037762 [A/G] NM_003913 PRPF4B EXON Missense_R457H exm2275845 6 4037784 [A/C] NM_003913 PRPF4B EXON Missense_R464S exm513578 6 4041016 [A/C] NM_003913 PRPF4B EXON Synonymous_R475R exm513626 6 4068932 [A/G] NM_173563 FAM217A EXON Missense_X509Q exm513629 6 4068950 [A/G] NM_173563 FAM217A EXON Missense_S503P exm513632 6 4069048 [T/G] NM_173563 FAM217A EXON Missense_K470T exm513637 6 4069133 [T/C] NM_173563 FAM217A EXON Missense_M442V exm513639 6 4069166 [T/C] NM_173563 FAM217A EXON Missense_V431I exm513643 6 4069351 [T/C] NM_173563 FAM217A EXON Missense_R369Q exm513645 6 4069378 [C/G] NM_173563 FAM217A EXON Missense_C360S exm2125273 6 4069388 [A/G] NM_173563 FAM217A EXON Missense_S357P exm513648 6 4069409 [C/G] NM_173563 FAM217A EXON Missense_Q350E exm513649 6 4069437 [A/C] NM_173563 FAM217A EXON Missense_S340R exm513653 6 4069499 [A/G] NM_173563 FAM217A EXON Nonsense_R320X exm513656 6 4069615 [A/G] NM_173563 FAM217A EXON Missense_T281I exm513659 6 4069685 [T/C] NM_173563 FAM217A EXON Missense_A258T exm513660 6 4069739 [C/G] NM_173563 FAM217A EXON Missense_E240Q exm513663 6 4069806 [T/G] NM_173563 FAM217A EXON Missense_S217R exm513664 6 4069807 [T/C] NM_173563 FAM217A EXON Missense_S217N exm513670 6 4069940 [T/C] NM_173563 FAM217A EXON Missense_I173V exm513673 6 4070081 [A/G] NM_173563 FAM217A EXON Missense_H126Y exm513675 6 4073519 [T/C] NM_173563 FAM217A EXON Missense_I98V exm513682 6 4074822 [A/C] NM_173563 FAM217A EXON Missense_G45V exm513686 6 4077619 [G/C] NM_173563 FAM217A EXON Missense_N10K exm513689 6 4087904 [T/C] NM_001085401 C6orf201 EXON Missense_P10L exm513692 6 4087934 [G/C] NM_001085401 C6orf201 EXON Missense_R20P exm513693 6 4087948 [T/G] NM_001085401 C6orf201 EXON Missense_D25Y exm513694 6 4087949 [T/A] NM_001085401 C6orf201 EXON Missense_D25V exm513696 6 4099242 [A/C] NM_001085401 C6orf201 EXON Missense_P32T exm513698 6 4099326 [A/C] NM_001085401 C6orf201 EXON Missense_P60T exm513701 6 4099378 [T/G] NM_001085401 C6orf201 EXON Missense_C77F exm513702 6 4099384 [T/C] NM_001085401 C6orf201 EXON Missense_L79S exm513707 6 4116143 [T/C] NM_001085401,NM_206836,NM_001166010,NM_006117,NR_028588 C6orf201,ECI2,ECI2,ECI2,ECI2 EXON Silent,Missense_V384M,Missense_V354M,Missense_V354M,Silent exm513708 6 4116209 [T/C] NM_001085401,NM_206836,NM_001166010,NM_006117,NR_028588 C6orf201,ECI2,ECI2,ECI2,ECI2 EXON Silent,Missense_A362T,Missense_A332T,Missense_A332T,Silent exm513710 6 4116262 [A/G] NM_001085401,NM_206836,NM_001166010,NM_006117,NR_028588 C6orf201,ECI2,ECI2,ECI2,ECI2 EXON Silent,Missense_A344V,Missense_A314V,Missense_A314V,Silent exm513713 6 4117607 [A/G] NM_001085401,NM_206836,NM_001166010,NM_006117,NR_028588 C6orf201,ECI2,ECI2,ECI2,ECI2 EXON Silent,Missense_P322S,Missense_P292S,Missense_P292S,Silent exm513714 6 4117634 [G/C] NM_001085401,NM_206836,NM_001166010,NM_006117,NR_028588 C6orf201,ECI2,ECI2,ECI2,ECI2 EXON Silent,Missense_A313P,Missense_A283P,Missense_A283P,Silent exm513721 6 4119469 [A/G] NM_001085401,NM_206836,NM_001166010,NM_006117,NR_028588 C6orf201,ECI2,ECI2,ECI2,ECI2 EXON Silent,Missense_P279L,Missense_P249L,Missense_P249L,Silent exm513723 6 4119499 [T/G] NM_001085401,NM_206836,NM_001166010,NM_006117,NR_028588 C6orf201,ECI2,ECI2,ECI2,ECI2 EXON Silent,Missense_H269P,Missense_H239P,Missense_H239P,Silent exm513726 6 4122249 [A/C] NM_001085401,NM_206836,NM_001166010,NM_006117,NR_028588 C6orf201,ECI2,ECI2,ECI2,ECI2 EXON Missense_N117K,Silent,Silent,Silent,Silent exm513728 6 4122279 [A/G] NM_001085401,NM_206836,NM_001166010,NM_006117,NR_028588 C6orf201,ECI2,ECI2,ECI2,ECI2 EXON Synonymous_T127T,Silent,Silent,Silent,Silent exm513730 6 4125486 [T/C] NM_001085401,NM_206836,NM_001166010,NM_006117,NR_028588 C6orf201,ECI2,ECI2,ECI2,ECI2 EXON Silent,Missense_R265G,Missense_R235G,Missense_R235G,Silent exm513733 6 4125503 [A/G] NM_001085401,NM_206836,NM_001166010,NM_006117,NR_028588 C6orf201,ECI2,ECI2,ECI2,ECI2 EXON Silent,Missense_A259V,Missense_A229V,Missense_A229V,Silent exm2125476 6 4126379 [T/C] NM_001085401,NM_206836,NM_001166010,NM_006117,NR_028588 C6orf201,ECI2,ECI2,ECI2,ECI2 EXON Silent,Missense_V222I,Missense_V192I,Missense_V192I,Silent exm513743 6 4126439 [G/C] NM_001085401,NM_206836,NM_001166010,NM_006117,NR_028588 C6orf201,ECI2,ECI2,ECI2,ECI2 EXON Silent,Missense_L202V,Missense_L172V,Missense_L172V,Silent exm2125479 6 4126459 [T/C] NM_001085401,NM_206836,NM_001166010,NM_006117,NR_028588 C6orf201,ECI2,ECI2,ECI2,ECI2 EXON Silent,Missense_Y195C,Missense_Y165C,Missense_Y165C,Silent exm513744 6 4126463 [T/C] NM_001085401,NM_206836,NM_001166010,NM_006117,NR_028588 C6orf201,ECI2,ECI2,ECI2,ECI2 EXON Silent,Missense_D194N,Missense_D164N,Missense_D164N,Silent exm513751 6 4130619 [T/G] NM_001085401,NM_206836,NM_001166010,NM_006117,NR_028588 C6orf201,ECI2,ECI2,ECI2,ECI2 EXON Silent,Missense_A163D,Missense_A133D,Missense_A133D,Silent exm2125496 6 4130719 [C/G] NM_001085401,NM_206836,NM_001166010,NM_006117,NR_028588 C6orf201,ECI2,ECI2,ECI2,ECI2 EXON Silent,Missense_P130A,Missense_P100A,Missense_P100A,Silent exm513768 6 4131101 [T/C] NM_206836,NM_001166010,NM_006117,NR_028588 ECI2,ECI2,ECI2,ECI2 Silent,Silent,Silent,Silent exm513773 6 4133855 [T/C] NM_206836,NM_001166010,NM_006117,NR_028588 ECI2,ECI2,ECI2,ECI2 EXON Missense_M47I,Missense_M17I,Missense_M17I,Silent exm513777 6 4135754 [G/C] NM_206836,NM_006117,NR_028588 ECI2,ECI2,ECI2 EXON Missense_S14W,Silent,Silent exm2270282 6 4604376 [T/C] exm2262135 6 4768691 [T/C] NR_026590 CDYL Silent exm-rs73717741 6 4874759 [G/C] NR_026590,NM_004824,NM_001143970 CDYL,CDYL,CDYL Silent,Silent,Silent exm513825 6 4892094 [T/C] NR_026590,NM_004824,NM_001143970,NM_001143971 CDYL,CDYL,CDYL,CDYL EXON Silent,Missense_R58C,Silent,Silent exm513835 6 4892334 [A/T] NR_026590,NM_004824,NM_001143970,NM_001143971 CDYL,CDYL,CDYL,CDYL EXON Silent,Missense_S138T,Missense_S6T,Missense_S6T exm513841 6 4892430 [A/G] NR_026590,NM_004824,NM_001143970,NM_001143971 CDYL,CDYL,CDYL,CDYL EXON Silent,Missense_E170K,Missense_E38K,Missense_E38K exm513844 6 4892460 [A/G] NR_026590,NM_004824,NM_001143970,NM_001143971 CDYL,CDYL,CDYL,CDYL EXON Silent,Missense_E180K,Missense_E48K,Missense_E48K exm513883 6 4937871 [A/G] NR_026590,NM_004824,NM_001143970,NM_001143971 CDYL,CDYL,CDYL,CDYL EXON Silent,Missense_V341I,Missense_V209I,Missense_V209I exm513928 6 4995464 [T/C] NM_006638 RPP40 EXON Missense_V314I exm513932 6 4995505 [T/C] NM_006638 RPP40 EXON Missense_Y300C exm513937 6 4996460 [T/C] NM_006638 RPP40 EXON Missense_D252N exm2128213 6 4996507 [C/G] NM_006638 RPP40 EXON Missense_R236P exm513946 6 4996543 [T/C] NM_006638 RPP40 EXON Missense_S224N exm513953 6 4998958 [T/C] NM_006638 RPP40 EXON Missense_H184R exm513957 6 4999042 [T/C] NM_006638 RPP40 EXON Missense_N156S exm513958 6 4999066 [A/G] NM_006638 RPP40 EXON Missense_I148T exm2128226 6 5000043 [T/C] NM_006638 RPP40 EXON Missense_I145V exm513966 6 5000840 [T/A] NM_006638 RPP40 EXON Missense_N98K exm513980 6 5004184 [T/C] NM_006638 RPP40 EXON Missense_E18G exm2257847 6 5085983 [C/G] NM_001145115 PPP1R3G EXON Synonymous_P88P exm2270283 6 5159064 [T/G] NM_001164841,NM_020408 LYRM4,LYRM4 Silent,Silent exm2262141 6 5183536 [T/C] NM_001164841,NM_020408 LYRM4,LYRM4 Silent,Silent exm514015 6 5260936 [A/C] NM_001164841,NM_020408,NM_001164840 LYRM4,LYRM4,LYRM4 EXON Missense_S11A,Missense_S11A,Missense_S11A exm514022 6 5368973 [C/G] NM_006567 FARS2 EXON Missense_S57C exm2128887 6 5369121 [A/G] NM_006567 FARS2 EXON Synonymous_G106G exm2257867 6 5369121 [A/G] NM_006567 FARS2 EXON Synonymous_G106G exm514030 6 5369210 [A/C] NM_006567 FARS2 EXON Missense_P136H exm2257868 6 5369271 [A/G] NM_006567 FARS2 EXON Synonymous_T156T exm514033 6 5369271 [A/G] NM_006567 FARS2 EXON Synonymous_T156T exm514038 6 5369312 [C/G] NM_006567 FARS2 EXON Missense_A170G exm2128942 6 5404838 [T/C] NM_006567 FARS2 EXON Missense_H226Y exm514050 6 5404899 [T/C] NM_006567 FARS2 EXON Missense_T246M exm514056 6 5431340 [A/G] NM_006567 FARS2 EXON Missense_N280S exm514066 6 5545479 [A/G] NM_006567 FARS2 EXON Missense_Y324C exm2270284 6 5653711 [T/C] NM_006567 FARS2 Silent exm514093 6 5771574 [A/G] NM_006567 FARS2 EXON Missense_R423Q exm2244333 6 6002625 [T/G] NM_016588 NRN1 EXON Missense_Q54P exm514108 6 6002698 [T/C] NM_016588 NRN1 EXON Missense_K30E exm514110 6 6002729 [C/G] NM_016588 NRN1 EXON Synonymous_A19A exm2244334 6 6145863 [G/C] NM_000129 F13A1 EXON Missense_P730A exm514124 6 6145997 [T/C] NM_000129 F13A1 EXON Missense_R685Q exm514126 6 6152055 [T/A] NM_000129 F13A1 EXON Missense_K679M exm514128 6 6152137 [G/C] NM_000129 F13A1 EXON Missense_E652Q exm514129 6 6152140 [T/C] NM_000129 F13A1 EXON Missense_V651I exm514135 6 6167738 [A/C] NM_000129 F13A1 EXON Missense_A621S exm514142 6 6167791 [A/G] NM_000129 F13A1 EXON Missense_A603V exm514144 6 6167822 [T/C] NM_000129 F13A1 EXON Missense_G593S exm514146 6 6167833 [A/T] NM_000129 F13A1 EXON Missense_L589Q exm-rs406238 6 6172302 [A/C] NM_000129 F13A1 Silent exm514150 6 6174830 [A/G] NM_000129 F13A1 EXON Missense_T577M exm514159 6 6174908 [A/G] NM_000129 F13A1 EXON Missense_T551I exm514177 6 6182365 [T/C] NM_000129 F13A1 EXON Missense_D439N exm514184 6 6197488 [A/G] NM_000129 F13A1 EXON Missense_A395V exm514197 6 6224961 [A/G] NM_000129 F13A1 EXON Missense_R311W exm2129656 6 6225027 [T/G] NM_000129 F13A1 EXON Missense_P289T exm514211 6 6266854 [T/C] NM_000129 F13A1 EXON Missense_V170I exm514215 6 6266965 [A/C] NM_000129 F13A1 EXON Missense_A133S exm-rs749005 6 6283666 [T/G] NM_000129 F13A1 Silent exm2262153 6 6292430 [A/C] NM_000129 F13A1 Silent exm514231 6 6305743 [A/T] NM_000129 F13A1 EXON Missense_F54I exm514233 6 6305757 [A/G] NM_000129 F13A1 EXON Missense_T49M exm514234 6 6305771 [A/C] NM_000129 F13A1 EXON Missense_E44D exm514236 6 6318795 [A/C] NM_000129 F13A1 EXON Missense_V35L exm514239 6 6318876 [T/C] NM_000129 F13A1 EXON Missense_A8T exm2257891 6 6331873 [T/C] exm514266 6 6589089 [T/C] NR_026970,NM_004271 LY86-AS1,LY86 EXON Silent,Missense_L41P exm514268 6 6589102 [T/C] NR_026970,NM_004271 LY86-AS1,LY86 EXON Silent,Synonymous_C45C exm-rs2326810 6 6612467 [G/C] NR_026970,NM_004271 LY86-AS1,LY86 Silent,Silent exm514280 6 6625237 [T/G] NM_004271 LY86 EXON Missense_I72S exm514283 6 6626579 [T/C] NM_004271 LY86 EXON Missense_S93P exm-rs3827784 6 6642405 [A/G] NM_004271 LY86 Silent exm514286 6 6649867 [A/G] NM_004271 LY86 EXON Missense_Y121C exm514287 6 6649870 [A/G] NM_004271 LY86 EXON Missense_Y122C exm514292 6 6654849 [A/G] NM_004271 LY86 EXON Missense_M160V exm-rs1294421 6 6743149 [T/G] exm2270286 6 6908368 [T/G] exm-rs675209 6 7102084 [T/C] exm-rs11755724 6 7118990 [A/G] NM_001168344,NM_001003700,NM_001003698,NM_001003699 RREB1,RREB1,RREB1,RREB1 Silent,Silent,Silent,Silent exm2270448 6 7153152 [T/C] NM_001168344,NM_001003700,NM_001003698,NM_001003699 RREB1,RREB1,RREB1,RREB1 Silent,Silent,Silent,Silent exm514294 6 7182155 [A/G] NM_001168344,NM_001003700,NM_001003698,NM_001003699 RREB1,RREB1,RREB1,RREB1 EXON Missense_S4N,Missense_S4N,Missense_S4N,Missense_S4N exm514303 6 7182258 [C/G] NM_001168344,NM_001003700,NM_001003698,NM_001003699 RREB1,RREB1,RREB1,RREB1 EXON Missense_Q38H,Missense_Q38H,Missense_Q38H,Missense_Q38H exm514305 6 7182266 [A/G] NM_001168344,NM_001003700,NM_001003698,NM_001003699 RREB1,RREB1,RREB1,RREB1 EXON Missense_K41R,Missense_K41R,Missense_K41R,Missense_K41R exm514306 6 7182272 [T/C] NM_001168344,NM_001003700,NM_001003698,NM_001003699 RREB1,RREB1,RREB1,RREB1 EXON Missense_P43L,Missense_P43L,Missense_P43L,Missense_P43L exm514308 6 7182280 [T/C] NM_001168344,NM_001003700,NM_001003698,NM_001003699 RREB1,RREB1,RREB1,RREB1 EXON Missense_P46S,Missense_P46S,Missense_P46S,Missense_P46S exm514312 6 7189398 [A/G] NM_001168344,NM_001003700,NM_001003698,NM_001003699 RREB1,RREB1,RREB1,RREB1 EXON Missense_T90A,Missense_T90A,Missense_T90A,Missense_T90A exm2130266 6 7189437 [A/G] NM_001168344,NM_001003700,NM_001003698,NM_001003699 RREB1,RREB1,RREB1,RREB1 EXON Missense_G103R,Missense_G103R,Missense_G103R,Missense_G103R exm514334 6 7211164 [A/C] NM_001168344,NM_001003700,NM_001003698,NM_001003699 RREB1,RREB1,RREB1,RREB1 EXON Missense_P185T,Missense_P185T,Missense_P185T,Missense_P185T exm514336 6 7211818 [A/G] NM_001168344,NM_001003700,NM_001003698,NM_001003699 RREB1,RREB1,RREB1,RREB1 EXON Missense_G195R,Missense_G195R,Missense_G195R,Missense_G195R exm514344 6 7226755 [A/G] NM_001168344,NM_001003700,NM_001003698,NM_001003699 RREB1,RREB1,RREB1,RREB1 EXON Missense_A255T,Missense_A255T,Missense_A255T,Missense_A255T exm514346 6 7226810 [A/G] NM_001168344,NM_001003700,NM_001003698,NM_001003699 RREB1,RREB1,RREB1,RREB1 EXON Missense_N273S,Missense_N273S,Missense_N273S,Missense_N273S exm514358 6 7229356 [A/G] NM_001168344,NM_001003700,NM_001003698,NM_001003699 RREB1,RREB1,RREB1,RREB1 EXON Missense_D342N,Missense_D342N,Missense_D342N,Missense_D342N exm514359 6 7229363 [T/G] NM_001168344,NM_001003700,NM_001003698,NM_001003699 RREB1,RREB1,RREB1,RREB1 EXON Missense_G344V,Missense_G344V,Missense_G344V,Missense_G344V exm514370 6 7229549 [A/G] NM_001168344,NM_001003700,NM_001003698,NM_001003699 RREB1,RREB1,RREB1,RREB1 EXON Missense_C406Y,Missense_C406Y,Missense_C406Y,Missense_C406Y exm514371 6 7229555 [A/G] NM_001168344,NM_001003700,NM_001003698,NM_001003699 RREB1,RREB1,RREB1,RREB1 EXON Missense_N408S,Missense_N408S,Missense_N408S,Missense_N408S exm514372 6 7229593 [A/G] NM_001168344,NM_001003700,NM_001003698,NM_001003699 RREB1,RREB1,RREB1,RREB1 EXON Missense_G421S,Missense_G421S,Missense_G421S,Missense_G421S exm514379 6 7229707 [A/G] NM_001168344,NM_001003700,NM_001003698,NM_001003699 RREB1,RREB1,RREB1,RREB1 EXON Missense_I459V,Missense_I459V,Missense_I459V,Missense_I459V exm514394 6 7229974 [A/C] NM_001168344,NM_001003700,NM_001003698,NM_001003699 RREB1,RREB1,RREB1,RREB1 EXON Missense_K548Q,Missense_K548Q,Missense_K548Q,Missense_K548Q exm514428 6 7230553 [A/G] NM_001168344,NM_001003700,NM_001003698,NM_001003699 RREB1,RREB1,RREB1,RREB1 EXON Missense_A741T,Missense_A741T,Missense_A741T,Missense_A741T exm514430 6 7230559 [A/G] NM_001168344,NM_001003700,NM_001003698,NM_001003699 RREB1,RREB1,RREB1,RREB1 EXON Missense_E743K,Missense_E743K,Missense_E743K,Missense_E743K exm514444 6 7230724 [A/G] NM_001168344,NM_001003700,NM_001003698,NM_001003699 RREB1,RREB1,RREB1,RREB1 EXON Missense_A798T,Missense_A798T,Missense_A798T,Missense_A798T exm514458 6 7230973 [T/C] NM_001168344,NM_001003700,NM_001003698,NM_001003699 RREB1,RREB1,RREB1,RREB1 EXON Missense_H881Y,Missense_H881Y,Missense_H881Y,Missense_H881Y exm514466 6 7231022 [A/G] NM_001168344,NM_001003700,NM_001003698,NM_001003699 RREB1,RREB1,RREB1,RREB1 EXON Missense_N897S,Missense_N897S,Missense_N897S,Missense_N897S exm514471 6 7231115 [A/G] NM_001168344,NM_001003700,NM_001003698,NM_001003699 RREB1,RREB1,RREB1,RREB1 EXON Missense_Y928C,Missense_Y928C,Missense_Y928C,Missense_Y928C exm514473 6 7231120 [T/G] NM_001168344,NM_001003700,NM_001003698,NM_001003699 RREB1,RREB1,RREB1,RREB1 EXON Missense_C930G,Missense_C930G,Missense_C930G,Missense_C930G exm514475 6 7231220 [T/C] NM_001168344,NM_001003700,NM_001003698,NM_001003699 RREB1,RREB1,RREB1,RREB1 EXON Missense_A963V,Missense_A963V,Missense_A963V,Missense_A963V exm514476 6 7231231 [A/G] NM_001168344,NM_001003700,NM_001003698,NM_001003699 RREB1,RREB1,RREB1,RREB1 EXON Missense_E967K,Missense_E967K,Missense_E967K,Missense_E967K exm514477 6 7231237 [T/C] NM_001168344,NM_001003700,NM_001003698,NM_001003699 RREB1,RREB1,RREB1,RREB1 EXON Missense_P969S,Missense_P969S,Missense_P969S,Missense_P969S exm2257912 6 7231377 [A/G] NM_001168344,NM_001003700,NM_001003698,NM_001003699 RREB1,RREB1,RREB1,RREB1 EXON Synonymous_A1015A,Synonymous_A1015A,Synonymous_A1015A,Synonymous_A1015A exm514507 6 7231606 [A/G] NM_001168344,NM_001003700,NM_001003698,NM_001003699 RREB1,RREB1,RREB1,RREB1 EXON Missense_A1092T,Missense_A1092T,Missense_A1092T,Missense_A1092T exm514521 6 7231754 [C/G] NM_001168344,NM_001003700,NM_001003698,NM_001003699 RREB1,RREB1,RREB1,RREB1 EXON Missense_P1141R,Missense_P1141R,Missense_P1141R,Missense_P1141R exm514532 6 7231843 [A/G] NM_001168344,NM_001003700,NM_001003698,NM_001003699 RREB1,RREB1,RREB1,RREB1 EXON Missense_D1171N,Missense_D1171N,Missense_D1171N,Missense_D1171N exm514538 6 7232012 [T/C] NM_001168344,NM_001003700,NM_001003698,NM_001003699 RREB1,RREB1,RREB1,RREB1 EXON Missense_P1227L,Missense_P1227L,Missense_P1227L,Missense_P1227L exm514539 6 7232014 [A/G] NM_001168344,NM_001003700,NM_001003698,NM_001003699 RREB1,RREB1,RREB1,RREB1 EXON Missense_E1228K,Missense_E1228K,Missense_E1228K,Missense_E1228K exm-rs2714337 6 7240577 [A/T] NM_001168344,NM_001003700,NM_001003698,NM_001003699 RREB1,RREB1,RREB1,RREB1 Silent,Silent,Silent,Silent exm514550 6 7240793 [T/C] NM_001168344,NM_001003700,NM_001003698,NM_001003699 RREB1,RREB1,RREB1,RREB1 EXON Silent,Missense_P1311S,Silent,Missense_P1311S exm514556 6 7246678 [T/C] NM_001168344,NM_001003700,NM_001003698,NM_001003699 RREB1,RREB1,RREB1,RREB1 EXON Missense_T1277I,Silent,Missense_T1277I,Missense_T1332I exm2130346 6 7246701 [G/C] NM_001168344,NM_001003700,NM_001003698,NM_001003699 RREB1,RREB1,RREB1,RREB1 EXON Missense_L1285V,Silent,Missense_L1285V,Missense_L1340V exm514563 6 7246834 [A/G] NM_001168344,NM_001003700,NM_001003698,NM_001003699 RREB1,RREB1,RREB1,RREB1 EXON Missense_R1329H,Silent,Missense_R1329H,Missense_R1384H exm514565 6 7246902 [A/G] NM_001168344,NM_001003700,NM_001003698,NM_001003699 RREB1,RREB1,RREB1,RREB1 EXON Missense_E1352K,Silent,Missense_E1352K,Missense_E1407K exm514577 6 7247098 [A/G] NM_001168344,NM_001003700,NM_001003698,NM_001003699 RREB1,RREB1,RREB1,RREB1 EXON Missense_R1417H,Silent,Missense_R1417H,Missense_R1472H exm514590 6 7247344 [A/C] NM_001168344,NM_001003700,NM_001003698,NM_001003699 RREB1,RREB1,RREB1,RREB1 EXON Missense_S1499Y,Silent,Missense_S1499Y,Missense_S1554Y exm514609 6 7248990 [A/G] NM_001168344,NM_001003700,NM_001003698,NM_001003699 RREB1,RREB1,RREB1,RREB1 EXON Missense_R1618Q,Missense_R1407Q,Missense_R1618Q,Missense_R1673Q exm514614 6 7249059 [T/C] NM_001168344,NM_001003700,NM_001003698,NM_001003699 RREB1,RREB1,RREB1,RREB1 EXON Missense_P1641L,Missense_P1430L,Missense_P1641L,Missense_P1696L exm-rs9505118 6 7290437 [A/G] NM_003144 SSR1 Silent exm514634 6 7299004 [G/C] NM_003144 SSR1 EXON Missense_R199T exm514652 6 7310259 [A/G] NM_003144 SSR1 EXON Missense_L28S exm514655 6 7313338 [C/G] NM_003144 SSR1 EXON Missense_R6G exm2244403 6 7330098 [A/G] NM_205864,NM_001170692,NM_001170693 CAGE1,CAGE1,CAGE1 EXON Missense_P623L,Missense_P821L,Missense_P786L exm514667 6 7355294 [T/C] NM_205864,NM_001170692,NM_001170693 CAGE1,CAGE1,CAGE1 EXON Missense_I585M,Missense_I783M,Missense_I748M exm514670 6 7365727 [T/G] NM_205864,NM_001170692,NM_001170693 CAGE1,CAGE1,CAGE1 EXON Missense_S560R,Missense_S723R,Missense_S723R exm514671 6 7365733 [A/G] NM_205864,NM_001170692,NM_001170693 CAGE1,CAGE1,CAGE1 EXON Missense_Y558H,Missense_Y721H,Missense_Y721H exm514674 6 7365784 [T/C] NM_205864,NM_001170692,NM_001170693 CAGE1,CAGE1,CAGE1 EXON Missense_A541T,Missense_A704T,Missense_A704T exm514682 6 7373356 [T/C] NM_205864,NM_001170692,NM_001170693 CAGE1,CAGE1,CAGE1 EXON Missense_A430T,Missense_A566T,Missense_A566T exm514683 6 7373406 [T/C] NM_205864,NM_001170692,NM_001170693 CAGE1,CAGE1,CAGE1 EXON Missense_Q413R,Missense_Q549R,Missense_Q549R exm514684 6 7373434 [C/G] NM_205864,NM_001170692,NM_001170693 CAGE1,CAGE1,CAGE1 EXON Missense_V404L,Missense_V540L,Missense_V540L exm2274120 6 7373782 [A/G] NM_205864,NM_001170692,NM_001170693 CAGE1,CAGE1,CAGE1 EXON Missense_Y288H,Missense_Y424H,Missense_Y424H exm514698 6 7373971 [G/C] NM_205864,NM_001170692,NM_001170693 CAGE1,CAGE1,CAGE1 EXON Missense_V225L,Missense_V361L,Missense_V361L exm514699 6 7373989 [T/G] NM_205864,NM_001170692,NM_001170693 CAGE1,CAGE1,CAGE1 EXON Missense_N219H,Missense_N355H,Missense_N355H exm514700 6 7374019 [T/G] NM_205864,NM_001170692,NM_001170693 CAGE1,CAGE1,CAGE1 EXON Missense_T209P,Missense_T345P,Missense_T345P exm514704 6 7374183 [T/C] NM_205864,NM_001170692,NM_001170693 CAGE1,CAGE1,CAGE1 EXON Missense_E154G,Missense_E290G,Missense_E290G exm514705 6 7374207 [T/G] NM_205864,NM_001170692,NM_001170693 CAGE1,CAGE1,CAGE1 EXON Missense_E146A,Missense_E282A,Missense_E282A exm514717 6 7378978 [A/G] NM_205864,NM_001170692,NM_001170693 CAGE1,CAGE1,CAGE1 EXON Missense_P51S,Missense_P187S,Missense_P187S exm514720 6 7379031 [A/G] NM_205864,NM_001170692,NM_001170693 CAGE1,CAGE1,CAGE1 EXON Missense_T33I,Missense_T169I,Missense_T169I exm514723 6 7379068 [T/A] NM_205864,NM_001170692,NM_001170693 CAGE1,CAGE1,CAGE1 EXON Nonsense_K21X,Nonsense_K157X,Nonsense_K157X exm514724 6 7379149 [A/C] NM_205864,NM_001170692,NM_001170693 CAGE1,CAGE1,CAGE1 EXON Silent,Missense_V130L,Missense_V130L exm514731 6 7387238 [T/A] NM_205864,NM_001170692,NM_001170693 CAGE1,CAGE1,CAGE1 EXON Silent,Missense_T57S,Missense_T57S exm514732 6 7387287 [T/A] NM_205864,NM_001170692,NM_001170693 CAGE1,CAGE1,CAGE1 EXON Silent,Missense_N40K,Missense_N40K exm514734 6 7387379 [A/G] NM_205864,NM_001170692,NM_001170693 CAGE1,CAGE1,CAGE1 EXON Silent,Missense_S10P,Missense_S10P exm514744 6 7395322 [A/G] NM_031480 RIOK1 EXON Missense_M105V exm514745 6 7395350 [A/G] NM_031480 RIOK1 EXON Missense_R114Q exm514760 6 7402881 [A/G] NM_031480,NM_153005 RIOK1,RIOK1 EXON Missense_I207V,Silent exm514761 6 7403054 [T/C] NM_031480,NM_153005 RIOK1,RIOK1 EXON Missense_R231C,Silent exm514769 6 7404738 [A/G] NM_031480,NM_153005 RIOK1,RIOK1 EXON Missense_M314I,Missense_M73I exm514779 6 7405242 [A/G] NM_031480,NM_153005 RIOK1,RIOK1 EXON Missense_A362T,Missense_A121T exm514787 6 7405508 [A/G] NM_031480,NM_153005 RIOK1,RIOK1 EXON Missense_V375I,Missense_V134I exm514789 6 7405521 [A/G] NM_031480,NM_153005 RIOK1,RIOK1 EXON Missense_R379Q,Missense_R138Q exm514790 6 7405535 [T/G] NM_031480,NM_153005 RIOK1,RIOK1 EXON Missense_F384V,Missense_F143V exm514812 6 7414582 [T/C] NM_031480,NM_153005 RIOK1,RIOK1 EXON Missense_R519C,Missense_R278C exm514813 6 7414583 [A/G] NM_031480,NM_153005 RIOK1,RIOK1 EXON Missense_R519H,Missense_R278H exm514818 6 7417576 [A/G] NM_031480,NM_153005 RIOK1,RIOK1 EXON Missense_M537V,Missense_M296V exm514822 6 7417658 [T/C] NM_031480,NM_153005 RIOK1,RIOK1 EXON Missense_T564M,Missense_T323M exm2270287 6 7539954 [T/C] exm2277329 6 7542160 [C/G] NM_001008844,NM_004415 DSP,DSP EXON Missense_N4K,Missense_N4K exm514826 6 7542236 [A/G] NM_001008844,NM_004415 DSP,DSP EXON Missense_V30M,Missense_V30M exm514836 6 7556022 [A/G] NM_001008844,NM_004415 DSP,DSP EXON Missense_C81Y,Missense_C81Y exm2244422 6 7556049 [A/G] NM_001008844,NM_004415 DSP,DSP EXON Missense_Q90R,Missense_Q90R exm514855 6 7559632 [A/G] NM_001008844,NM_004415 DSP,DSP EXON Missense_R199K,Missense_R199K exm514856 6 7562930 [A/G] NM_001008844,NM_004415 DSP,DSP EXON Missense_E215K,Missense_E215K exm514858 6 7562954 [A/G] NM_001008844,NM_004415 DSP,DSP EXON Missense_G223S,Missense_G223S exm514862 6 7562975 [A/G] NM_001008844,NM_004415 DSP,DSP EXON Missense_D230N,Missense_D230N exm514874 6 7565703 [A/G] NM_001008844,NM_004415 DSP,DSP EXON Missense_D297N,Missense_D297N exm514876 6 7565727 [T/A] NM_001008844,NM_004415 DSP,DSP EXON Missense_I305F,Missense_I305F exm514881 6 7566613 [T/C] NM_001008844,NM_004415 DSP,DSP EXON Missense_R315C,Missense_R315C exm514882 6 7566616 [A/G] NM_001008844,NM_004415 DSP,DSP EXON Missense_M316V,Missense_M316V exm2130804 6 7568095 [A/C] NM_001008844,NM_004415 DSP,DSP EXON Missense_N408H,Missense_N408H exm514904 6 7569533 [A/G] NM_001008844,NM_004415 DSP,DSP EXON Missense_I512V,Missense_I512V exm514909 6 7570791 [A/G] NM_001008844,NM_004415 DSP,DSP EXON Missense_A566T,Missense_A566T exm514914 6 7571692 [A/G] NM_001008844,NM_004415 DSP,DSP EXON Missense_N593S,Missense_N593S exm514934 6 7574476 [A/G] NM_001008844,NM_004415 DSP,DSP EXON Missense_Y763C,Missense_Y763C exm514947 6 7575687 [T/C] NM_001008844,NM_004415 DSP,DSP EXON Missense_R866C,Missense_R866C exm514949 6 7576527 [A/G] NM_001008844,NM_004415 DSP,DSP EXON Synonymous_R877R,Synonymous_R877R exm514955 6 7576619 [A/G] NM_001008844,NM_004415 DSP,DSP EXON Missense_R908H,Missense_R908H exm514958 6 7576670 [A/G] NM_001008844,NM_004415 DSP,DSP EXON Missense_R925Q,Missense_R925Q exm514960 6 7577213 [A/G] NM_001008844,NM_004415 DSP,DSP EXON Missense_G939S,Missense_G939S exm514989 6 7580039 [A/T] NM_001008844,NM_004415 DSP,DSP EXON Silent,Missense_L1206I exm2130847 6 7580069 [A/G] NM_001008844,NM_004415 DSP,DSP EXON Silent,Missense_I1216V exm2274121 6 7580124 [A/G] NM_001008844,NM_004415 DSP,DSP EXON Silent,Missense_N1234S exm515001 6 7580285 [A/C] NM_001008844,NM_004415 DSP,DSP EXON Silent,Missense_K1288Q exm515004 6 7580346 [A/G] NM_001008844,NM_004415 DSP,DSP EXON Silent,Missense_R1308Q exm515013 6 7580540 [A/G] NM_001008844,NM_004415 DSP,DSP EXON Silent,Missense_T1373A exm515015 6 7580596 [A/C] NM_001008844,NM_004415 DSP,DSP EXON Silent,Nonsense_Y1391X exm515020 6 7580795 [C/G] NM_001008844,NM_004415 DSP,DSP EXON Silent,Missense_R1458G exm515025 6 7580878 [T/G] NM_001008844,NM_004415 DSP,DSP EXON Silent,Missense_R1485S exm515027 6 7580912 [T/C] NM_001008844,NM_004415 DSP,DSP EXON Silent,Missense_R1497W exm515032 6 7580958 [A/G] NM_001008844,NM_004415 DSP,DSP EXON Silent,Missense_Y1512C exm515035 6 7581001 [A/C] NM_001008844,NM_004415 DSP,DSP EXON Silent,Missense_N1526K exm515037 6 7581032 [T/C] NM_001008844,NM_004415 DSP,DSP EXON Silent,Missense_R1537C exm515042 6 7581119 [G/C] NM_001008844,NM_004415 DSP,DSP EXON Silent,Missense_L1566V exm515046 6 7581198 [A/G] NM_001008844,NM_004415 DSP,DSP EXON Silent,Missense_K1592R exm2130872 6 7581366 [A/G] NM_001008844,NM_004415 DSP,DSP EXON Silent,Missense_Q1648R exm515057 6 7581590 [C/G] NM_001008844,NM_004415 DSP,DSP EXON Silent,Missense_E1723Q exm515058 6 7581596 [T/C] NM_001008844,NM_004415 DSP,DSP EXON Silent,Missense_R1725W exm515059 6 7581601 [A/C] NM_001008844,NM_004415 DSP,DSP EXON Silent,Missense_N1726K exm515061 6 7581636 [A/G] NM_001008844,NM_004415 DSP,DSP EXON Silent,Missense_R1738Q exm515062 6 7581641 [A/G] NM_001008844,NM_004415 DSP,DSP EXON Silent,Missense_E1740K exm515070 6 7582881 [A/G] NM_001008844,NM_004415 DSP,DSP EXON Missense_N1197D,Missense_N1796D exm515072 6 7582993 [T/A] NM_001008844,NM_004415 DSP,DSP EXON Missense_E1234V,Missense_E1833V exm515075 6 7583112 [T/C] NM_001008844,NM_004415 DSP,DSP EXON Missense_R1274C,Missense_R1873C exm515080 6 7583239 [A/G] NM_001008844,NM_004415 DSP,DSP EXON Missense_R1316H,Missense_R1915H exm515100 6 7583703 [A/G] NM_001008844,NM_004415 DSP,DSP EXON Missense_D1471N,Missense_D2070N exm515103 6 7583790 [A/C] NM_001008844,NM_004415 DSP,DSP EXON Missense_P1500T,Missense_P2099T exm515104 6 7583791 [T/C] NM_001008844,NM_004415 DSP,DSP EXON Missense_P1500L,Missense_P2099L exm515107 6 7583814 [G/C] NM_001008844,NM_004415 DSP,DSP EXON Missense_V1508L,Missense_V2107L exm515120 6 7583946 [T/C] NM_001008844,NM_004415 DSP,DSP EXON Missense_R1552W,Missense_R2151W exm2244425 6 7584260 [T/G] NM_001008844,NM_004415 DSP,DSP EXON Missense_Q1656H,Missense_Q2255H exm2130919 6 7584294 [A/T] NM_001008844,NM_004415 DSP,DSP EXON Missense_T1668S,Missense_T2267S exm515134 6 7584376 [C/G] NM_001008844,NM_004415 DSP,DSP EXON Missense_A1695G,Missense_A2294G exm515151 6 7585117 [A/G] NM_001008844,NM_004415 DSP,DSP EXON Missense_R1942K,Missense_R2541K exm515161 6 7585378 [T/C] NM_001008844,NM_004415 DSP,DSP EXON Missense_L2029P,Missense_L2628P exm2130942 6 7585411 [A/G] NM_001008844,NM_004415 DSP,DSP EXON Missense_R2040Q,Missense_R2639Q exm515179 6 7585795 [A/C] NM_001008844,NM_004415 DSP,DSP EXON Missense_T2168N,Missense_T2767N exm2257924 6 7585796 [G/C] NM_001008844,NM_004415 DSP,DSP EXON Synonymous_T2168T,Synonymous_T2767T exm515186 6 7585950 [A/C] NM_001008844,NM_004415 DSP,DSP EXON Missense_M2220L,Missense_M2819L exm515187 6 7585962 [C/G] NM_001008844,NM_004415 DSP,DSP EXON Missense_P2224A,Missense_P2823A exm515219 6 7590624 [T/C] NM_152551 SNRNP48 EXON Missense_P45L exm515226 6 7593998 [A/G] NM_152551 SNRNP48 EXON Missense_N63S exm515227 6 7594060 [T/G] NM_152551 SNRNP48 EXON Missense_G84C exm515235 6 7601578 [A/C] NM_152551 SNRNP48 EXON Missense_S139Y exm515245 6 7602857 [T/C] NM_152551 SNRNP48 EXON Synonymous_D199D exm515252 6 7605665 [T/A] NM_152551 SNRNP48 EXON Missense_E251V exm2244434 6 7606299 [A/G] NM_152551 SNRNP48 EXON Missense_R281Q exm515260 6 7606314 [C/G] NM_152551 SNRNP48 EXON Missense_S286T exm515261 6 7606329 [A/G] NM_152551 SNRNP48 EXON Missense_E291G exm515267 6 7606394 [T/G] NM_152551 SNRNP48 EXON Missense_D313Y exm-rs12198986 6 7720059 [A/G] exm-rs3812163 6 7725760 [T/A] exm515328 6 7845478 [A/G] NM_001718 BMP6 EXON Missense_R257H exm515336 6 7861785 [T/C] NM_001718 BMP6 EXON Missense_T320I exm515340 6 7862555 [T/C] NM_001718 BMP6 EXON Missense_A343V exm515347 6 7862635 [A/G] NM_001718 BMP6 EXON Missense_V370M exm515348 6 7862662 [T/C] NM_001718 BMP6 EXON Missense_R379W exm515353 6 7862707 [A/G] NM_001718 BMP6 EXON Missense_V394M exm515357 6 7880291 [A/G] NM_001718 BMP6 EXON Missense_N450S exm515362 6 7880470 [T/C] NM_001718 BMP6 EXON Missense_A479V exm2257936 6 7880504 [T/C] NM_001718 BMP6 EXON Synonymous_Y490Y exm515373 6 7883393 [A/G] NM_030810,NM_001145549,NR_037616 TXNDC5,TXNDC5,BLOC1S5-TXNDC5 EXON Missense_A428V,Missense_A320V,Silent exm515375 6 7883412 [A/G] NM_030810,NM_001145549,NR_037616 TXNDC5,TXNDC5,BLOC1S5-TXNDC5 EXON Missense_R422C,Missense_R314C,Silent exm515377 6 7883468 [T/C] NM_030810,NM_001145549,NR_037616 TXNDC5,TXNDC5,BLOC1S5-TXNDC5 EXON Missense_R403Q,Missense_R295Q,Silent exm515383 6 7884639 [T/C] NM_030810,NM_001145549,NR_037616 TXNDC5,TXNDC5,BLOC1S5-TXNDC5 EXON Missense_A377T,Missense_A269T,Silent exm515388 6 7884696 [A/G] NM_030810,NM_001145549,NR_037616 TXNDC5,TXNDC5,BLOC1S5-TXNDC5 EXON Missense_P358S,Missense_P250S,Silent exm515395 6 7886224 [A/C] NM_030810,NM_001145549,NR_037616 TXNDC5,TXNDC5,BLOC1S5-TXNDC5 EXON Missense_G339V,Missense_G231V,Silent exm515396 6 7888946 [A/C] NM_030810,NM_001145549,NR_037616 TXNDC5,TXNDC5,BLOC1S5-TXNDC5 EXON Missense_A319S,Missense_A211S,Silent exm515403 6 7888987 [A/G] NM_030810,NM_001145549,NR_037616 TXNDC5,TXNDC5,BLOC1S5-TXNDC5 EXON Missense_V305A,Missense_V197A,Silent exm515404 6 7888990 [A/G] NM_030810,NM_001145549,NR_037616 TXNDC5,TXNDC5,BLOC1S5-TXNDC5 EXON Missense_T304I,Missense_T196I,Silent exm515408 6 7889033 [T/C] NM_030810,NM_001145549,NR_037616 TXNDC5,TXNDC5,BLOC1S5-TXNDC5 EXON Missense_V290M,Missense_V182M,Silent exm515417 6 7889768 [T/C] NM_030810,NM_001145549,NR_037616 TXNDC5,TXNDC5,BLOC1S5-TXNDC5 EXON Missense_R260H,Missense_R152H,Silent exm515420 6 7891873 [A/T] NM_030810,NM_001145549,NR_037616 TXNDC5,TXNDC5,BLOC1S5-TXNDC5 EXON Missense_E238V,Missense_E130V,Silent exm515421 6 7891874 [T/C] NM_030810,NM_001145549,NR_037616 TXNDC5,TXNDC5,BLOC1S5-TXNDC5 EXON Missense_E238K,Missense_E130K,Silent exm515429 6 7895348 [T/C] NM_030810,NM_001145549,NR_037616 TXNDC5,TXNDC5,BLOC1S5-TXNDC5 EXON Missense_V203I,Missense_V95I,Silent exm515439 6 7899864 [T/C] NM_030810,NM_001145549,NR_037616 TXNDC5,TXNDC5,BLOC1S5-TXNDC5 EXON Missense_R155Q,Missense_R47Q,Silent exm515440 6 7899909 [T/G] NM_030810,NM_001145549,NR_037616 TXNDC5,TXNDC5,BLOC1S5-TXNDC5 EXON Missense_K140T,Missense_K32T,Silent exm515448 6 7904844 [T/C] NM_030810,NM_001145549,NR_037616 TXNDC5,TXNDC5,BLOC1S5-TXNDC5 EXON Missense_D126N,Missense_D18N,Silent exm2257939 6 7920904 [A/C] NR_037616 BLOC1S5-TXNDC5 Silent exm515473 6 8015920 [C/G] NR_037616,NM_201280,NM_001199322,NM_001199323,NR_037618 BLOC1S5-TXNDC5,BLOC1S5,BLOC1S5,BLOC1S5,EEF1E1-MUTED EXON Silent,Missense_E176Q,Missense_E112Q,Silent,Silent exm515475 6 8015926 [A/G] NR_037616,NM_201280,NM_001199322,NM_001199323,NR_037618 BLOC1S5-TXNDC5,BLOC1S5,BLOC1S5,BLOC1S5,EEF1E1-MUTED EXON Silent,Missense_Y174H,Missense_Y110H,Silent,Silent exm515477 6 8016007 [T/C] NR_037616,NM_201280,NM_001199322,NM_001199323,NR_037618 BLOC1S5-TXNDC5,BLOC1S5,BLOC1S5,BLOC1S5,EEF1E1-MUTED EXON Silent,Missense_N147D,Missense_N83D,Silent,Silent exm515484 6 8026608 [A/G] NR_037616,NM_201280,NM_001199322,NM_001199323,NR_037618 BLOC1S5-TXNDC5,BLOC1S5,BLOC1S5,BLOC1S5,EEF1E1-MUTED EXON Silent,Nonsense_R126X,Nonsense_R62X,Synonymous_N82N,Silent exm515487 6 8041468 [T/C] NR_037616,NM_201280,NM_001199322,NM_001199323,NR_037618 BLOC1S5-TXNDC5,BLOC1S5,BLOC1S5,BLOC1S5,EEF1E1-MUTED EXON Silent,Missense_E77K,Missense_E13K,Silent,Silent exm515506 6 8090426 [T/C] NR_037618,NM_001135650,NM_004280 EEF1E1-MUTED,EEF1E1,EEF1E1 EXON Silent,Missense_R126H,Missense_R126H exm515512 6 8097529 [T/C] NR_037618,NM_001135650,NM_004280 EEF1E1-MUTED,EEF1E1,EEF1E1 EXON Silent,Missense_S87G,Missense_S87G exm-rs10484750 6 8378609 [T/C] exm515528 6 8413836 [C/G] NM_015948,NM_001142541,NM_001142540 SLC35B3,SLC35B3,SLC35B3 EXON Missense_L384F,Missense_L384F,Missense_L384F exm515544 6 8417198 [T/G] NM_015948,NM_001142541,NM_001142540 SLC35B3,SLC35B3,SLC35B3 EXON Missense_L302I,Missense_L302I,Missense_L302I exm515549 6 8417687 [A/G] NM_015948,NM_001142541,NM_001142540 SLC35B3,SLC35B3,SLC35B3 EXON Missense_L274P,Missense_L274P,Missense_L274P exm2131885 6 8420978 [T/C] NM_015948,NM_001142541,NM_001142540 SLC35B3,SLC35B3,SLC35B3 EXON Missense_T220A,Missense_T220A,Missense_T220A exm515561 6 8421060 [A/T] NM_015948,NM_001142541,NM_001142540 SLC35B3,SLC35B3,SLC35B3 EXON Synonymous_G192G,Synonymous_G192G,Synonymous_G192G exm515569 6 8428179 [T/C] NM_015948,NM_001142541,NM_001142540 SLC35B3,SLC35B3,SLC35B3 EXON Missense_K137R,Missense_K137R,Missense_K137R exm2274122 6 8428233 [T/G] NM_015948,NM_001142541,NM_001142540 SLC35B3,SLC35B3,SLC35B3 EXON Missense_Q119P,Missense_Q119P,Missense_Q119P exm515573 6 8428266 [A/G] NM_015948,NM_001142541,NM_001142540 SLC35B3,SLC35B3,SLC35B3 EXON Missense_F108S,Missense_F108S,Missense_F108S exm515577 6 8430155 [T/C] NM_015948,NM_001142541,NM_001142540 SLC35B3,SLC35B3,SLC35B3 EXON Missense_Q80R,Missense_Q80R,Missense_Q80R exm515581 6 8430201 [T/C] NM_015948,NM_001142541,NM_001142540 SLC35B3,SLC35B3,SLC35B3 EXON Missense_V65I,Missense_V65I,Missense_V65I exm515586 6 8430338 [T/C] NM_015948,NM_001142541,NM_001142540 SLC35B3,SLC35B3,SLC35B3 EXON Missense_N19S,Missense_N19S,Missense_N19S exm515587 6 8430374 [A/G] NM_015948,NM_001142541,NM_001142540 SLC35B3,SLC35B3,SLC35B3 EXON Missense_A7V,Missense_A7V,Missense_A7V exm2270288 6 8639771 [T/G] NR_038979,NR_038980 LOC100506207,LOC100506207 Silent,Silent exm2266152 6 8869571 [A/G] exm2266293 6 8917897 [A/G] exm-rs438259 6 9030336 [A/G] exm-rs11243305 6 9138798 [T/C] exm-rs214440 6 9394160 [T/C] exm2257989 6 9401979 [A/G] exm-rs10484246 6 9451197 [T/A] exm2258003 6 9923536 [A/G] exm-IND6-10047566 6 9939581 [D/I] exm-IND6-10085775 6 9977790 [D/I] exm2264192 6 10105007 [A/C] exm-rs13195786 6 10163968 [A/G] exm2257427 6 10368708 [A/G] exm515666 6 10398708 [T/G] NM_003220,NM_001042425,NM_001032280 TFAP2A,TFAP2A,TFAP2A EXON Missense_N419T,Missense_N415T,Missense_N413T exm515705 6 10410363 [A/G] NM_003220,NM_001042425,NM_001032280 TFAP2A,TFAP2A,TFAP2A EXON Missense_P84L,Missense_P80L,Missense_P78L exm2242918 6 10529242 [A/G] NM_145649 GCNT2 EXON Missense_R33H exm515754 6 10529340 [A/G] NM_145649 GCNT2 EXON Missense_K66E exm515760 6 10529449 [C/G] NM_145649 GCNT2 EXON Missense_T102S exm515762 6 10529488 [A/G] NM_145649 GCNT2 EXON Missense_R115K exm515764 6 10529526 [G/C] NM_145649 GCNT2 EXON Missense_L128V exm2107422 6 10529964 [A/G] NM_145649 GCNT2 EXON Missense_A274T exm515792 6 10529994 [T/C] NM_145649 GCNT2 EXON Missense_L284F exm515796 6 10530036 [A/G] NM_145649 GCNT2 EXON Missense_E298K exm515811 6 10556664 [T/C] NM_145649,NM_001491 GCNT2,GCNT2 EXON Silent,Missense_L3S exm515823 6 10556910 [G/C] NM_145649,NM_001491 GCNT2,GCNT2 EXON Silent,Missense_P85R exm515828 6 10556962 [T/G] NM_145649,NM_001491 GCNT2,GCNT2 EXON Silent,Missense_H102Q exm515833 6 10557098 [A/G] NM_145649,NM_001491 GCNT2,GCNT2 EXON Silent,Missense_A148T exm2107449 6 10557208 [C/G] NM_145649,NM_001491 GCNT2,GCNT2 EXON Silent,Nonsense_Y184X exm515848 6 10557378 [A/G] NM_145649,NM_001491 GCNT2,GCNT2 EXON Silent,Missense_Y241C exm515851 6 10557396 [T/C] NM_145649,NM_001491 GCNT2,GCNT2 EXON Silent,Missense_A247V exm515854 6 10557417 [A/G] NM_145649,NM_001491 GCNT2,GCNT2 EXON Silent,Missense_H254R exm515862 6 10586276 [T/G] NM_145649,NM_001491,NM_145655 GCNT2,GCNT2,GCNT2 EXON Silent,Silent,Missense_I18M exm2107508 6 10586343 [A/G] NM_145649,NM_001491,NM_145655 GCNT2,GCNT2,GCNT2 EXON Silent,Silent,Missense_E41K exm2107511 6 10586465 [A/T] NM_145649,NM_001491,NM_145655 GCNT2,GCNT2,GCNT2 EXON Silent,Silent,Missense_N81K exm515877 6 10586619 [T/C] NM_145649,NM_001491,NM_145655 GCNT2,GCNT2,GCNT2 EXON Silent,Silent,Missense_P133S exm515880 6 10586727 [A/G] NM_145649,NM_001491,NM_145655 GCNT2,GCNT2,GCNT2 EXON Silent,Silent,Missense_A169T exm515881 6 10586757 [A/G] NM_145649,NM_001491,NM_145655 GCNT2,GCNT2,GCNT2 EXON Silent,Silent,Missense_A179T exm515885 6 10586823 [A/C] NM_145649,NM_001491,NM_145655 GCNT2,GCNT2,GCNT2 EXON Silent,Silent,Synonymous_R201R exm515889 6 10586929 [A/G] NM_145649,NM_001491,NM_145655 GCNT2,GCNT2,GCNT2 EXON Silent,Silent,Missense_H236R exm515893 6 10587038 [G/C] NM_145649,NM_001491,NM_145655 GCNT2,GCNT2,GCNT2 EXON Silent,Silent,Missense_D272E exm515897 6 10587057 [T/C] NM_145649,NM_001491,NM_145655 GCNT2,GCNT2,GCNT2 EXON Silent,Silent,Missense_R279C exm515901 6 10621643 [A/G] NM_145649,NM_001491,NM_145655 GCNT2,GCNT2,GCNT2 EXON Missense_S329G,Missense_S327G,Missense_S329G exm515906 6 10626704 [T/G] NM_145649,NM_001491,NM_145655 GCNT2,GCNT2,GCNT2 EXON Missense_V358G,Missense_V356G,Missense_V358G exm2262013 6 10661262 [T/C] exm515931 6 10687344 [T/C] NR_026736,NR_026737,NM_001145020 C6orf52,C6orf52,C6orf52 EXON Silent,Silent,Missense_R42H exm515936 6 10687746 [T/G] NR_026736,NR_026737,NM_001145020 C6orf52,C6orf52,C6orf52 EXON Silent,Silent,Missense_A13D exm2242928 6 10694725 [A/G] NR_026736,NR_026737,NM_001145020 C6orf52,C6orf52,C6orf52 Silent,Silent,Silent exm515940 6 10695188 [A/G] NM_017906 PAK1IP1 EXON Silent exm515961 6 10702799 [A/G] NM_017906 PAK1IP1 EXON Missense_G124R exm515968 6 10704808 [A/G] NM_017906 PAK1IP1 EXON Missense_I189V exm515977 6 10709190 [T/C] NM_017906 PAK1IP1 EXON Missense_V282A exm515984 6 10709569 [A/T] NM_017906 PAK1IP1 EXON Missense_T355S exm515985 6 10709581 [A/G] NM_017906 PAK1IP1 EXON Missense_K359E exm515986 6 10709590 [A/G] NM_017906 PAK1IP1 EXON Missense_T362A exm515989 6 10709632 [A/G] NM_017906 PAK1IP1 EXON Missense_V376I exm516012 6 10728944 [T/G] NM_001165258,NM_016462 TMEM14C,TMEM14C EXON Missense_L91V,Missense_L91V exm516015 6 10730877 [A/G] NM_001165258,NM_016462 TMEM14C,TMEM14C EXON Missense_S106N,Missense_S106N exm2242941 6 10747996 [T/C] NM_001127711,NM_030969 TMEM14B,TMEM14B EXON Silent,Silent exm516022 6 10749489 [T/C] NM_001127711,NM_030969 TMEM14B,TMEM14B EXON Missense_P4L,Missense_P4L exm516040 6 10751452 [A/G] NM_001127711,NM_030969 TMEM14B,TMEM14B EXON Silent,Missense_V63I exm516043 6 10751457 [A/G] NM_001127711,NM_030969 TMEM14B,TMEM14B EXON Silent,Nonsense_W64X exm2242943 6 10755377 [A/G] NM_001127711,NM_030969 TMEM14B,TMEM14B EXON Missense_A35T,Missense_A69T exm516054 6 10756728 [T/C] NM_001127711,NM_030969 TMEM14B,TMEM14B EXON Missense_R74C,Missense_R108C exm516062 6 10764798 [G/C] NM_001242385,NM_001242957,NM_005906 MAK,MAK,MAK EXON Missense_G547R,Missense_G612R,Missense_G587R exm516063 6 10764813 [A/G] NM_001242385,NM_001242957,NM_005906 MAK,MAK,MAK EXON Missense_R542W,Missense_R607W,Missense_R582W exm516070 6 10770413 [A/G] NM_001242385,NM_001242957,NM_005906 MAK,MAK,MAK EXON Silent,Missense_F575L,Missense_F550L exm516071 6 10770421 [A/G] NM_001242385,NM_001242957,NM_005906 MAK,MAK,MAK EXON Silent,Missense_I572T,Missense_I547T exm516075 6 10775596 [A/G] NM_001242385,NM_001242957,NM_005906 MAK,MAK,MAK EXON Missense_V521A,Missense_V521A,Missense_V521A exm516076 6 10775600 [A/G] NM_001242385,NM_001242957,NM_005906 MAK,MAK,MAK EXON Missense_P520S,Missense_P520S,Missense_P520S exm516083 6 10784717 [T/C] NM_001242385,NM_001242957,NM_005906 MAK,MAK,MAK EXON Missense_E469K,Missense_E469K,Missense_E469K exm516084 6 10784740 [A/G] NM_001242385,NM_001242957,NM_005906 MAK,MAK,MAK EXON Missense_V461A,Missense_V461A,Missense_V461A exm516085 6 10784741 [T/C] NM_001242385,NM_001242957,NM_005906 MAK,MAK,MAK EXON Missense_V461I,Missense_V461I,Missense_V461I exm2107809 6 10791921 [A/C] NM_001242385,NM_001242957,NM_005906 MAK,MAK,MAK EXON Missense_D435Y,Missense_D435Y,Missense_D435Y exm516089 6 10791947 [T/C] NM_001242385,NM_001242957,NM_005906 MAK,MAK,MAK EXON Missense_G426D,Missense_G426D,Missense_G426D exm2107810 6 10792040 [A/C] NM_001242385,NM_001242957,NM_005906 MAK,MAK,MAK EXON Missense_R395L,Missense_R395L,Missense_R395L exm516096 6 10796265 [A/G] NM_001242385,NM_001242957,NM_005906 MAK,MAK,MAK EXON Missense_T370M,Missense_T370M,Missense_T370M exm516113 6 10802169 [T/C] NM_001242385,NM_001242957,NM_005906 MAK,MAK,MAK EXON Missense_E263K,Missense_E263K,Missense_E263K exm516131 6 10813879 [T/C] NM_001242385,NM_001242957,NM_005906 MAK,MAK,MAK EXON Missense_H119R,Missense_H119R,Missense_H119R exm516148 6 10874265 [A/G] NM_004752 GCM2 EXON Missense_V495A exm516155 6 10874407 [T/C] NM_004752 GCM2 EXON Missense_M448V exm2275847 6 10874451 [A/G] NM_004752 GCM2 EXON Missense_P433L exm516177 6 10874689 [T/C] NM_004752 GCM2 EXON Missense_M354V exm516182 6 10874760 [T/A] NM_004752 GCM2 EXON Missense_Q330L exm516185 6 10874806 [T/C] NM_004752 GCM2 EXON Missense_N315D exm516192 6 10874905 [A/C] NM_004752 GCM2 EXON Missense_Y282D exm516195 6 10875070 [T/C] NM_004752 GCM2 EXON Missense_I227V exm516197 6 10875142 [T/C] NM_004752 GCM2 EXON Missense_G203S exm516208 6 10876784 [A/G] NM_004752 GCM2 EXON Missense_A117V exm516210 6 10877397 [T/C] NM_004752 GCM2 EXON Missense_D107N exm516218 6 10877548 [G/C] NM_004752 GCM2 EXON Missense_K56N exm516219 6 10877559 [T/C] NM_004752 GCM2 EXON Missense_D53N exm516222 6 10877577 [A/G] NM_004752 GCM2 EXON Missense_R47C exm516229 6 10882006 [G/C] NM_004752 GCM2 EXON Missense_Q7H exm516252 6 10894336 [T/G] NM_001040274 SYCP2L EXON Missense_F79V exm516253 6 10894381 [A/G] NM_001040274 SYCP2L EXON Missense_V94I exm-rs2153157 6 10897488 [A/G] NM_001040274 SYCP2L Silent exm516257 6 10898308 [T/C] NM_001040274 SYCP2L EXON Missense_S134L exm-rs6910232 6 10902439 [A/G] NM_001040274 SYCP2L Silent exm516269 6 10903153 [A/G] NM_001040274 SYCP2L EXON Missense_E200K exm2242964 6 10907904 [A/G] NM_001040274 SYCP2L EXON Missense_R269Q exm516281 6 10910391 [A/G] NM_001040274 SYCP2L EXON Missense_R277H exm516290 6 10912993 [A/G] NM_001040274 SYCP2L EXON Missense_A336T exm516294 6 10924756 [T/C] NM_001040274 SYCP2L EXON Missense_I367T exm2108072 6 10926573 [T/C] NM_001040274 SYCP2L EXON Missense_M407T exm516303 6 10926588 [T/C] NM_001040274 SYCP2L EXON Missense_T412M exm516308 6 10927539 [C/G] NM_001040274 SYCP2L EXON Missense_T460S exm516314 6 10927592 [A/G] NM_001040274 SYCP2L EXON Missense_D478N exm516320 6 10928673 [T/C] NM_001040274 SYCP2L EXON Missense_P493L exm516332 6 10935327 [A/G] NM_001040274 SYCP2L EXON Missense_E574K exm516333 6 10935357 [T/G] NM_001040274 SYCP2L EXON Missense_S584A exm516334 6 10935412 [A/G] NM_001040274 SYCP2L EXON Missense_Q602R exm516342 6 10942931 [A/G] NM_001040274 SYCP2L EXON Missense_T636A exm516345 6 10942964 [A/G] NM_001040274 SYCP2L EXON Missense_N647D exm516349 6 10955408 [T/C] NM_001040274 SYCP2L EXON Missense_P672S exm516353 6 10956414 [A/G] NM_001040274 SYCP2L EXON Missense_N701S exm516354 6 10956416 [A/G] NM_001040274 SYCP2L EXON Missense_G702S exm516367 6 10964015 [A/G] NM_001040274 SYCP2L EXON Synonymous_R805R exm516373 6 10984108 [A/G] NM_017770 ELOVL2 EXON Missense_M266T exm516385 6 10990028 [T/C] NM_017770 ELOVL2 EXON Missense_V225M exm516403 6 11000375 [C/G] NM_017770 ELOVL2 EXON Missense_G93A exm516405 6 11005622 [T/C] NM_017770 ELOVL2 EXON Missense_A80T exm2257449 6 11005623 [A/G] NM_017770 ELOVL2 EXON Synonymous_S79S exm516407 6 11005676 [C/G] NM_017770 ELOVL2 EXON Missense_L62V exm516429 6 11103937 [A/G] NM_001135575,NM_207582 SMIM13,ERVFRD-1 EXON Silent,Missense_S536L exm2257454 6 11104251 [A/G] NM_001135575,NM_207582 SMIM13,ERVFRD-1 EXON Silent,Synonymous_C431C exm516444 6 11104402 [T/C] NM_001135575,NM_207582 SMIM13,ERVFRD-1 EXON Silent,Missense_Y381C exm516446 6 11104444 [A/G] NM_001135575,NM_207582 SMIM13,ERVFRD-1 EXON Silent,Missense_T367M exm516447 6 11104469 [T/C] NM_001135575,NM_207582 SMIM13,ERVFRD-1 EXON Silent,Missense_A359T exm516457 6 11104680 [G/C] NM_001135575,NM_207582 SMIM13,ERVFRD-1 EXON Silent,Missense_I288M exm516466 6 11104937 [A/G] NM_001135575,NM_207582 SMIM13,ERVFRD-1 EXON Silent,Nonsense_R203X exm516482 6 11105314 [T/C] NM_001135575,NM_207582 SMIM13,ERVFRD-1 EXON Silent,Missense_R77Q exm516510 6 11185782 [C/G] NM_001271033,NM_006403,NR_073131,NM_001142393 NEDD9,NEDD9,NEDD9,NEDD9 EXON Missense_Q557H,Missense_Q706H,Silent,Missense_Q706H exm516512 6 11185787 [A/G] NM_001271033,NM_006403,NR_073131,NM_001142393 NEDD9,NEDD9,NEDD9,NEDD9 EXON Missense_R556W,Missense_R705W,Silent,Missense_R705W exm516522 6 11188458 [T/C] NM_001271033,NM_006403,NR_073131,NM_001142393 NEDD9,NEDD9,NEDD9,NEDD9 EXON Missense_H514R,Missense_H663R,Silent,Missense_H663R exm516534 6 11190358 [T/C] NM_001271033,NM_006403,NR_073131,NM_001142393 NEDD9,NEDD9,NEDD9,NEDD9 EXON Missense_G433S,Missense_G582S,Silent,Missense_G582S exm2243008 6 11190372 [A/G] NM_001271033,NM_006403,NR_073131,NM_001142393 NEDD9,NEDD9,NEDD9,NEDD9 EXON Missense_T428M,Missense_T577M,Silent,Missense_T577M exm516543 6 11190436 [T/G] NM_001271033,NM_006403,NR_073131,NM_001142393 NEDD9,NEDD9,NEDD9,NEDD9 EXON Missense_L407I,Missense_L556I,Silent,Missense_L556I exm516546 6 11190478 [T/C] NM_001271033,NM_006403,NR_073131,NM_001142393 NEDD9,NEDD9,NEDD9,NEDD9 EXON Missense_A393T,Missense_A542T,Silent,Missense_A542T exm516547 6 11190484 [T/C] NM_001271033,NM_006403,NR_073131,NM_001142393 NEDD9,NEDD9,NEDD9,NEDD9 EXON Missense_D391N,Missense_D540N,Silent,Missense_D540N exm516553 6 11190591 [T/C] NM_001271033,NM_006403,NR_073131,NM_001142393 NEDD9,NEDD9,NEDD9,NEDD9 EXON Missense_H355R,Missense_H504R,Silent,Missense_H504R exm516559 6 11190642 [T/C] NM_001271033,NM_006403,NR_073131,NM_001142393 NEDD9,NEDD9,NEDD9,NEDD9 EXON Missense_R338Q,Missense_R487Q,Silent,Missense_R487Q exm516562 6 11190787 [T/C] NM_001271033,NM_006403,NR_073131,NM_001142393 NEDD9,NEDD9,NEDD9,NEDD9 EXON Missense_G290R,Missense_G439R,Silent,Missense_G439R exm516566 6 11190859 [A/G] NM_001271033,NM_006403,NR_073131,NM_001142393 NEDD9,NEDD9,NEDD9,NEDD9 EXON Missense_R266W,Missense_R415W,Silent,Missense_R415W exm516569 6 11190982 [T/C] NM_001271033,NM_006403,NR_073131,NM_001142393 NEDD9,NEDD9,NEDD9,NEDD9 EXON Missense_G225S,Missense_G374S,Silent,Missense_G374S exm516581 6 11191191 [A/G] NM_001271033,NM_006403,NR_073131,NM_001142393 NEDD9,NEDD9,NEDD9,NEDD9 EXON Missense_P155L,Missense_P304L,Silent,Missense_P304L exm516584 6 11191291 [A/C] NM_001271033,NM_006403,NR_073131,NM_001142393 NEDD9,NEDD9,NEDD9,NEDD9 EXON Missense_A122S,Missense_A271S,Silent,Missense_A271S exm516590 6 11191425 [A/G] NM_001271033,NM_006403,NR_073131,NM_001142393 NEDD9,NEDD9,NEDD9,NEDD9 EXON Missense_P77L,Missense_P226L,Silent,Missense_P226L exm516593 6 11191434 [T/C] NM_001271033,NM_006403,NR_073131,NM_001142393 NEDD9,NEDD9,NEDD9,NEDD9 EXON Missense_Y74C,Missense_Y223C,Silent,Missense_Y223C exm2243012 6 11201245 [A/G] NM_001271033,NM_006403,NR_073131,NM_001142393,NM_182966 NEDD9,NEDD9,NEDD9,NEDD9,NEDD9 EXON Silent,Silent,Silent,Silent,Missense_L165S exm516611 6 11201263 [T/C] NM_001271033,NM_006403,NR_073131,NM_001142393,NM_182966 NEDD9,NEDD9,NEDD9,NEDD9,NEDD9 EXON Silent,Silent,Silent,Silent,Missense_G159E exm516636 6 11213566 [T/G] NM_001271033,NM_006403,NR_073131,NM_001142393,NM_182966 NEDD9,NEDD9,NEDD9,NEDD9,NEDD9 EXON Silent,Missense_P136Q,Silent,Missense_P136Q,Missense_P136Q exm516645 6 11213857 [A/C] NM_001271033,NM_006403,NR_073131,NM_001142393,NM_182966 NEDD9,NEDD9,NEDD9,NEDD9,NEDD9 EXON Silent,Missense_G39V,Silent,Missense_G39V,Missense_G39V exm2109095 6 11306230 [T/C] NR_073131,NM_001142393 NEDD9,NEDD9 EXON Silent,Missense_T3A exm2266156 6 11477493 [A/G] exm516668 6 11575735 [A/G] NM_001100829 TMEM170B EXON Missense_V114I exm516683 6 11723611 [A/G] NM_001143948,NM_032744 ADTRP,ADTRP EXON Missense_L228P,Missense_L210P exm516685 6 11723636 [T/C] NM_001143948,NM_032744 ADTRP,ADTRP EXON Missense_V220I,Missense_V202I exm516692 6 11735897 [T/A] NM_001143948,NM_032744 ADTRP,ADTRP EXON Missense_I155N,Missense_I137N exm516693 6 11735913 [A/T] NM_001143948,NM_032744 ADTRP,ADTRP EXON Missense_T150S,Missense_T132S exm516694 6 11766527 [T/C] NM_001143948,NM_032744 ADTRP,ADTRP EXON Missense_V142M,Missense_V124M exm516695 6 11766550 [T/C] NM_001143948,NM_032744 ADTRP,ADTRP EXON Missense_K134R,Missense_K116R exm516698 6 11766607 [A/T] NM_001143948,NM_032744 ADTRP,ADTRP EXON Missense_F115Y,Missense_F97Y exm516699 6 11768482 [T/C] NM_001143948,NM_032744 ADTRP,ADTRP EXON Synonymous_T114T,Synonymous_T96T exm516702 6 11770262 [A/G] NM_001143948,NM_032744 ADTRP,ADTRP Silent,Silent exm2270451 6 11822003 [T/C] exm516721 6 12120290 [T/C] NM_002114 HIVEP1 EXON Missense_H88Y exm516733 6 12120536 [A/G] NM_002114 HIVEP1 EXON Missense_S170G exm516734 6 12120588 [T/C] NM_002114 HIVEP1 EXON Missense_T187M exm516736 6 12120635 [A/G] NM_002114 HIVEP1 EXON Missense_M203V exm516748 6 12120844 [A/T] NM_002114 HIVEP1 EXON Missense_N272K exm516755 6 12121113 [T/C] NM_002114 HIVEP1 EXON Missense_P362L exm516758 6 12121149 [A/G] NM_002114 HIVEP1 EXON Missense_Y374C exm516766 6 12121493 [A/G] NM_002114 HIVEP1 EXON Missense_V489I exm516773 6 12121653 [T/C] NM_002114 HIVEP1 EXON Missense_I542T exm516775 6 12121697 [A/G] NM_002114 HIVEP1 EXON Missense_V557M exm516786 6 12122102 [T/G] NM_002114 HIVEP1 EXON Missense_F692V exm516789 6 12122174 [A/G] NM_002114 HIVEP1 EXON Missense_T716A exm516800 6 12122510 [A/G] NM_002114 HIVEP1 EXON Missense_V828I exm516805 6 12122645 [A/G] NM_002114 HIVEP1 EXON Missense_T873A exm516812 6 12122700 [A/G] NM_002114 HIVEP1 EXON Missense_G891E exm516816 6 12122825 [A/G] NM_002114 HIVEP1 EXON Missense_M933V exm516818 6 12122864 [A/G] NM_002114 HIVEP1 EXON Missense_I946V exm516823 6 12123038 [A/G] NM_002114 HIVEP1 EXON Missense_G1004S exm516829 6 12123186 [A/C] NM_002114 HIVEP1 EXON Missense_K1053T exm516830 6 12123192 [T/C] NM_002114 HIVEP1 EXON Missense_S1055F exm516836 6 12123249 [A/G] NM_002114 HIVEP1 EXON Missense_N1074S exm516839 6 12123266 [A/G] NM_002114 HIVEP1 EXON Missense_D1080N exm516845 6 12123471 [T/G] NM_002114 HIVEP1 EXON Missense_F1148C exm516848 6 12123538 [T/G] NM_002114 HIVEP1 EXON Missense_K1170N exm516853 6 12123597 [A/G] NM_002114 HIVEP1 EXON Missense_G1190E exm516862 6 12123785 [A/G] NM_002114 HIVEP1 EXON Missense_D1253N exm516867 6 12123896 [C/G] NM_002114 HIVEP1 EXON Missense_E1290Q exm516873 6 12124017 [T/C] NM_002114 HIVEP1 EXON Missense_T1330M exm516882 6 12124215 [T/C] NM_002114 HIVEP1 EXON Missense_P1396L exm516883 6 12124240 [T/G] NM_002114 HIVEP1 EXON Missense_L1404F exm516897 6 12124484 [A/G] NM_002114 HIVEP1 EXON Missense_T1486A exm516899 6 12124535 [A/G] NM_002114 HIVEP1 EXON Missense_V1503I exm516901 6 12124584 [A/G] NM_002114 HIVEP1 EXON Missense_H1519R exm2257486 6 12124633 [A/G] NM_002114 HIVEP1 EXON Synonymous_T1535T exm516908 6 12124679 [A/G] NM_002114 HIVEP1 EXON Missense_K1551E exm516913 6 12124855 [A/G] NM_002114 HIVEP1 EXON Missense_M1609I exm516920 6 12125004 [T/C] NM_002114 HIVEP1 EXON Missense_L1659P exm2243091 6 12125037 [T/G] NM_002114 HIVEP1 EXON Missense_C1670F exm516930 6 12125178 [A/C] NM_002114 HIVEP1 EXON Missense_S1717Y exm516932 6 12125232 [T/C] NM_002114 HIVEP1 EXON Missense_S1735F exm516934 6 12125259 [A/G] NM_002114 HIVEP1 EXON Missense_S1744N exm516937 6 12125386 [T/A] NM_002114 HIVEP1 EXON Missense_R1786S exm516940 6 12125486 [A/C] NM_002114 HIVEP1 EXON Missense_Q1820K exm516942 6 12125507 [A/G] NM_002114 HIVEP1 EXON Missense_A1827T exm516944 6 12125541 [A/G] NM_002114 HIVEP1 EXON Missense_N1838S exm516945 6 12125565 [T/G] NM_002114 HIVEP1 EXON Missense_F1846C exm516947 6 12125613 [A/G] NM_002114 HIVEP1 EXON Missense_K1862R exm516950 6 12125693 [A/G] NM_002114 HIVEP1 EXON Missense_T1889A exm516956 6 12125772 [A/G] NM_002114 HIVEP1 EXON Missense_Q1915R exm516965 6 12125934 [G/C] NM_002114 HIVEP1 EXON Missense_T1969R exm516970 6 12125972 [A/G] NM_002114 HIVEP1 EXON Missense_T1982A exm516973 6 12130023 [T/C] NM_002114 HIVEP1 EXON Missense_V2036A exm516984 6 12161701 [T/C] NM_002114 HIVEP1 EXON Missense_S2173P exm516990 6 12161883 [G/C] NM_002114 HIVEP1 EXON Missense_R2233S exm516992 6 12161912 [T/C] NM_002114 HIVEP1 EXON Missense_T2243M exm2109945 6 12161940 [A/G] NM_002114 HIVEP1 EXON Synonymous_A2252A exm2257487 6 12161940 [A/G] NM_002114 HIVEP1 EXON Synonymous_A2252A exm2109946 6 12162034 [A/G] NM_002114 HIVEP1 EXON Missense_D2284N exm517000 6 12162068 [T/C] NM_002114 HIVEP1 EXON Missense_S2295F exm517004 6 12163528 [G/C] NM_002114 HIVEP1 EXON Missense_V2331L exm517010 6 12163643 [T/C] NM_002114 HIVEP1 EXON Missense_P2369L exm517012 6 12163657 [T/C] NM_002114 HIVEP1 EXON Missense_P2374S exm517013 6 12163724 [A/G] NM_002114 HIVEP1 EXON Missense_Y2396C exm517014 6 12163739 [T/C] NM_002114 HIVEP1 EXON Missense_V2401A exm517019 6 12163802 [A/G] NM_002114 HIVEP1 EXON Missense_G2422E exm517021 6 12163831 [A/G] NM_002114 HIVEP1 EXON Missense_S2432G exm517040 6 12164224 [A/G] NM_002114 HIVEP1 EXON Missense_V2563I exm2243094 6 12164275 [A/G] NM_002114 HIVEP1 EXON Missense_E2580K exm517044 6 12164308 [A/G] NM_002114 HIVEP1 EXON Missense_A2591T exm517046 6 12164348 [T/C] NM_002114 HIVEP1 EXON Missense_P2604L exm517049 6 12164456 [T/C] NM_002114 HIVEP1 EXON Missense_S2640L exm517051 6 12164467 [A/G] NM_002114 HIVEP1 EXON Missense_V2644M exm-rs219950 6 12165363 [T/C] exm-rs1040994 6 12197213 [A/C] exm517062 6 12290866 [G/C] NM_001168319,NM_001955 EDN1,EDN1 EXON Missense_D2H,Missense_D2H exm517063 6 12290906 [T/G] NM_001168319,NM_001955 EDN1,EDN1 EXON Missense_C15F,Missense_C15F exm2110056 6 12292615 [A/G] NM_001168319,NM_001955 EDN1,EDN1 EXON Missense_G35R,Missense_G36R exm2257493 6 12292650 [T/C] NM_001168319,NM_001955 EDN1,EDN1 EXON Synonymous_L46L,Synonymous_L47L exm517081 6 12294178 [A/G] NM_001168319,NM_001955 EDN1,EDN1 EXON Missense_V79I,Missense_V80I exm517084 6 12294254 [A/G] NM_001168319,NM_001955 EDN1,EDN1 EXON Missense_R104H,Missense_R105H exm2243103 6 12294547 [G/C] NM_001168319,NM_001955 EDN1,EDN1 EXON Missense_C147S,Missense_C148S exm517090 6 12294584 [A/C] NM_001168319,NM_001955 EDN1,EDN1 EXON Missense_L159F,Missense_L160F exm2110061 6 12294621 [A/C] NM_001168319,NM_001955 EDN1,EDN1 EXON Missense_H172N,Missense_H173N exm517092 6 12296217 [A/G] NM_001168319,NM_001955 EDN1,EDN1 EXON Missense_V185I,Missense_V186I exm517094 6 12296251 [C/G] NM_001168319,NM_001955 EDN1,EDN1 EXON Missense_G196A,Missense_G197A exm517095 6 12296255 [T/G] NM_001168319,NM_001955 EDN1,EDN1 EXON Missense_K197N,Missense_K198N exm517097 6 12296286 [T/C] NM_001168319,NM_001955 EDN1,EDN1 EXON Nonsense_R208X,Nonsense_R209X exm2262038 6 12607041 [A/G] exm517114 6 12749973 [T/C] NM_001242648,NM_030948 PHACTR1,PHACTR1 EXON Synonymous_S67S,Synonymous_S67S exm517115 6 12750013 [T/C] NM_001242648,NM_030948 PHACTR1,PHACTR1 EXON Synonymous_L81L,Synonymous_L81L exm-rs1332844 6 12889004 [T/C] NM_001242648,NM_030948 PHACTR1,PHACTR1 Silent,Silent exm-rs9369640 6 12901441 [A/C] NM_001242648,NM_030948 PHACTR1,PHACTR1 Silent,Silent exm-rs9349379 6 12903957 [A/G] NM_001242648,NM_030948 PHACTR1,PHACTR1 Silent,Silent exm2270292 6 13097658 [T/G] NM_001242648,NM_030948 PHACTR1,PHACTR1 Silent,Silent exm517155 6 13206282 [T/C] NM_001242648,NM_030948 PHACTR1,PHACTR1 EXON Synonymous_T300T,Synonymous_T300T exm-rs4715166 6 13216058 [A/G] NM_001242648,NM_030948 PHACTR1,PHACTR1 Silent,Silent exm2257527 6 13228267 [T/C] NM_001242648,NM_030948 PHACTR1,PHACTR1 EXON Synonymous_D402D,Synonymous_D402D exm-rs436268 6 13257222 [T/C] NM_001242648,NM_030948 PHACTR1,PHACTR1 Silent,Silent exm2111388 6 13305382 [C/G] NM_001143965,NM_001143966,NM_001258457,NM_001143964,NM_016495 TBC1D7,TBC1D7,TBC1D7,TBC1D7,TBC1D7 EXON Missense_A278G,Missense_A251G,Missense_A232G,Missense_A278G,Missense_A278G exm2257532 6 13306747 [T/C] NM_001143965,NM_001143966,NM_001258457,NM_001143964,NM_016495 TBC1D7,TBC1D7,TBC1D7,TBC1D7,TBC1D7 EXON Synonymous_K226K,Synonymous_K199K,Synonymous_K180K,Synonymous_K226K,Synonymous_K226K exm517210 6 13307904 [A/G] NM_001143965,NM_001143966,NM_001258457,NM_001143964,NM_016495 TBC1D7,TBC1D7,TBC1D7,TBC1D7,TBC1D7 EXON Missense_A198V,Missense_A171V,Missense_A152V,Missense_A198V,Missense_A198V exm517220 6 13316853 [A/G] NM_001143965,NM_001143966,NM_001258457,NM_001143964,NM_016495 TBC1D7,TBC1D7,TBC1D7,TBC1D7,TBC1D7 EXON Missense_R157C,Missense_R130C,Silent,Missense_R157C,Missense_R157C exm517224 6 13316876 [A/G] NM_001143965,NM_001143966,NM_001258457,NM_001143964,NM_016495 TBC1D7,TBC1D7,TBC1D7,TBC1D7,TBC1D7 EXON Missense_V149A,Missense_V122A,Silent,Missense_V149A,Missense_V149A exm517225 6 13316909 [T/G] NM_001143965,NM_001143966,NM_001258457,NM_001143964,NM_016495 TBC1D7,TBC1D7,TBC1D7,TBC1D7,TBC1D7 EXON Missense_A138D,Missense_A111D,Silent,Missense_A138D,Missense_A138D exm2243188 6 13316916 [T/C] NM_001143965,NM_001143966,NM_001258457,NM_001143964,NM_016495 TBC1D7,TBC1D7,TBC1D7,TBC1D7,TBC1D7 EXON Missense_A136T,Missense_A109T,Silent,Missense_A136T,Missense_A136T exm2111496 6 13321279 [A/C] NM_001143965,NM_001143966,NM_001258457,NM_001143964,NM_016495 TBC1D7,TBC1D7,TBC1D7,TBC1D7,TBC1D7 EXON Missense_R81L,Missense_R54L,Missense_R81L,Missense_R81L,Missense_R81L exm517233 6 13321280 [A/G] NM_001143965,NM_001143966,NM_001258457,NM_001143964,NM_016495 TBC1D7,TBC1D7,TBC1D7,TBC1D7,TBC1D7 EXON Missense_R81C,Missense_R54C,Missense_R81C,Missense_R81C,Missense_R81C exm517236 6 13321321 [A/C] NM_001143965,NM_001143966,NM_001258457,NM_001143964,NM_016495 TBC1D7,TBC1D7,TBC1D7,TBC1D7,TBC1D7 EXON Missense_L67W,Missense_L40W,Missense_L67W,Missense_L67W,Missense_L67W exm-rs499818 6 13332467 [A/G] exm2111509 6 13365763 [C/G] NM_001242628,NM_001242630,NM_018988 GFOD1,GFOD1,GFOD1 EXON Missense_V26L,Missense_V26L,Missense_V129L exm2111510 6 13365809 [T/C] NM_001242628,NM_001242630,NM_018988 GFOD1,GFOD1,GFOD1 EXON Synonymous_K10K,Synonymous_K10K,Synonymous_K113K exm2266295 6 13436619 [A/G] NM_001242628,NM_018988 GFOD1,GFOD1 Silent,Silent exm517335 6 13584347 [A/G] NM_001193267,NM_031244,NM_001242827,NM_012241 SIRT5,SIRT5,SIRT5,SIRT5 EXON Missense_R2Q,Missense_R2Q,Silent,Missense_R2Q exm2111844 6 13584370 [A/C] NM_001193267,NM_031244,NM_001242827,NM_012241 SIRT5,SIRT5,SIRT5,SIRT5 EXON Synonymous_R10R,Synonymous_R10R,Silent,Synonymous_R10R exm2111845 6 13584386 [T/C] NM_001193267,NM_031244,NM_001242827,NM_012241 SIRT5,SIRT5,SIRT5,SIRT5 EXON Missense_L15P,Missense_L15P,Silent,Missense_L15P exm2266157 6 13584583 [A/G] NM_001193267,NM_031244,NM_001242827,NM_012241 SIRT5,SIRT5,SIRT5,SIRT5 Silent,Silent,Silent,Silent exm517342 6 13588577 [T/C] NM_001193267,NM_031244,NM_001242827,NM_012241 SIRT5,SIRT5,SIRT5,SIRT5 EXON Nonsense_R44X,Nonsense_R44X,Silent,Nonsense_R44X exm517371 6 13595750 [A/G] NM_001193267,NM_031244,NM_001242827,NM_012241 SIRT5,SIRT5,SIRT5,SIRT5 EXON Missense_A173T,Missense_A173T,Missense_A65T,Missense_A173T exm517372 6 13595765 [A/C] NM_001193267,NM_031244,NM_001242827,NM_012241 SIRT5,SIRT5,SIRT5,SIRT5 EXON Missense_S178R,Missense_S178R,Missense_S70R,Missense_S178R exm517381 6 13599303 [T/C] NM_001193267,NM_031244,NM_001242827,NM_012241 SIRT5,SIRT5,SIRT5,SIRT5 EXON Synonymous_H201H,Synonymous_H219H,Synonymous_H111H,Synonymous_H219H exm517382 6 13599306 [T/C] NM_001193267,NM_031244,NM_001242827,NM_012241 SIRT5,SIRT5,SIRT5,SIRT5 EXON Synonymous_V202V,Synonymous_V220V,Synonymous_V112V,Synonymous_V220V exm517394 6 13601169 [T/C] NM_001193267,NM_031244,NM_001242827,NM_012241 SIRT5,SIRT5,SIRT5,SIRT5 EXON Missense_T264M,Missense_T282M,Missense_T174M,Missense_T282M exm517397 6 13604710 [T/A] NM_001193267,NM_031244,NM_001242827,NM_012241 SIRT5,SIRT5,SIRT5,SIRT5 EXON Silent,Missense_H287L,Silent,Silent exm517398 6 13604714 [C/G] NM_001193267,NM_031244,NM_001242827,NM_012241 SIRT5,SIRT5,SIRT5,SIRT5 EXON Silent,Missense_L288F,Silent,Silent exm517399 6 13604717 [C/G] NM_001193267,NM_031244,NM_001242827,NM_012241 SIRT5,SIRT5,SIRT5,SIRT5 EXON Silent,Missense_I289M,Silent,Silent exm517400 6 13604718 [T/C] NM_001193267,NM_031244,NM_001242827,NM_012241 SIRT5,SIRT5,SIRT5,SIRT5 EXON Silent,Missense_S290P,Silent,Silent exm517406 6 13612060 [A/G] NM_001193267,NM_001242827,NM_012241 SIRT5,SIRT5,SIRT5 EXON Missense_E281G,Missense_E191G,Missense_E299G exm517408 6 13612078 [A/G] NM_001193267,NM_001242827,NM_012241 SIRT5,SIRT5,SIRT5 EXON Missense_E287G,Missense_E197G,Missense_E305G exm517421 6 13615957 [A/C] NM_016167 NOL7 EXON Missense_L94M exm517428 6 13616710 [T/C] NM_016167 NOL7 EXON Missense_P115S exm2111878 6 13620487 [A/G] NM_016167 NOL7 EXON Missense_R183K exm517449 6 13620523 [A/G] NM_016167 NOL7 EXON Missense_H195R exm517462 6 13625996 [T/C] NM_005493 RANBP9 EXON Missense_D650N exm517475 6 13638073 [A/G] NM_005493 RANBP9 EXON Missense_M547T exm517488 6 13644782 [T/C] NM_005493 RANBP9 EXON Missense_I369M exm517494 6 13644886 [T/C] NM_005493 RANBP9 EXON Missense_V335M exm2257547 6 13711276 [C/G] NM_005493 RANBP9 EXON Synonymous_L154L exm517512 6 13711281 [G/C] NM_005493 RANBP9 EXON Missense_R153G exm517555 6 13801615 [T/C] NM_001031713 CCDC90A EXON Missense_T216A exm517563 6 13807220 [A/G] NM_001031713 CCDC90A EXON Missense_S158P exm517590 6 13977426 [T/C] NM_001165034,NM_152737,NM_001165032,NM_001165033 RNF182,RNF182,RNF182,RNF182 EXON Nonsense_R26X,Nonsense_R26X,Nonsense_R26X,Nonsense_R26X exm517591 6 13977469 [C/G] NM_001165034,NM_152737,NM_001165032,NM_001165033 RNF182,RNF182,RNF182,RNF182 EXON Missense_C40S,Missense_C40S,Missense_C40S,Missense_C40S exm517596 6 13977615 [A/G] NM_001165034,NM_152737,NM_001165032,NM_001165033 RNF182,RNF182,RNF182,RNF182 EXON Missense_V89I,Missense_V89I,Missense_V89I,Missense_V89I exm2266158 6 14093556 [A/G] exm517659 6 14131844 [A/G] NM_001251901,NM_001040280,NM_004233 CD83,CD83,CD83 EXON Missense_D24N,Missense_D83N,Missense_D83N exm517662 6 14131854 [A/G] NM_001251901,NM_001040280,NM_004233 CD83,CD83,CD83 EXON Missense_N27S,Missense_N86S,Missense_N86S exm517663 6 14131881 [A/G] NM_001251901,NM_001040280,NM_004233 CD83,CD83,CD83 EXON Missense_R36Q,Missense_R95Q,Missense_R95Q exm517666 6 14131902 [T/C] NM_001251901,NM_001040280,NM_004233 CD83,CD83,CD83 EXON Missense_S43L,Missense_S102L,Missense_S102L exm517667 6 14131919 [A/G] NM_001251901,NM_001040280,NM_004233 CD83,CD83,CD83 EXON Missense_T49A,Missense_T108A,Missense_T108A exm517678 6 14135394 [A/G] NM_001251901,NM_001040280,NM_004233 CD83,CD83,CD83 EXON Missense_R123Q,Missense_R181Q,Missense_R182Q exm2270293 6 14492000 [T/C] exm2270452 6 14572304 [T/C] exm-rs6914079 6 14596365 [A/G] exm-rs7770731 6 14598820 [T/C] exm2264164 6 15001506 [A/C] exm-rs6941421 6 15089151 [T/C] exm517710 6 15468925 [T/C] NM_004973,NM_001267040 JARID2,JARID2 EXON Missense_H216Y,Missense_H44Y exm517713 6 15487583 [A/C] NM_004973,NM_001267040 JARID2,JARID2 EXON Missense_Q239P,Missense_Q67P exm517716 6 15487649 [A/G] NM_004973,NM_001267040 JARID2,JARID2 EXON Missense_R261H,Missense_R89H exm517731 6 15496432 [T/C] NM_004973,NM_001267040 JARID2,JARID2 EXON Missense_R326C,Missense_R154C exm517748 6 15496663 [A/G] NM_004973,NM_001267040 JARID2,JARID2 EXON Missense_A403T,Missense_A231T exm517750 6 15496670 [A/G] NM_004973,NM_001267040 JARID2,JARID2 EXON Missense_N405S,Missense_N233S exm517757 6 15496858 [A/G] NM_004973,NM_001267040 JARID2,JARID2 EXON Missense_E468K,Missense_E296K exm517765 6 15496915 [A/G] NM_004973,NM_001267040 JARID2,JARID2 EXON Missense_K487E,Missense_K315E exm517766 6 15496930 [T/C] NM_004973,NM_001267040 JARID2,JARID2 EXON Missense_R492C,Missense_R320C exm2114605 6 15497014 [A/G] NM_004973,NM_001267040 JARID2,JARID2 EXON Missense_A520T,Missense_A348T exm517805 6 15501414 [T/C] NM_004973,NM_001267040 JARID2,JARID2 EXON Missense_T741I,Missense_T569I exm517806 6 15501416 [G/C] NM_004973,NM_001267040 JARID2,JARID2 EXON Missense_E742Q,Missense_E570Q exm517810 6 15501449 [T/C] NM_004973,NM_001267040 JARID2,JARID2 EXON Missense_R753C,Missense_R581C exm2257612 6 15504769 [A/G] NM_004973,NM_001267040 JARID2,JARID2 EXON Synonymous_A829A,Synonymous_A657A exm517845 6 15513162 [A/G] NM_004973,NM_001267040 JARID2,JARID2 EXON Missense_H1051R,Missense_H879R exm517855 6 15513567 [A/G] NM_004973,NM_001267040 JARID2,JARID2 EXON Missense_G1122R,Missense_G950R exm517857 6 15513583 [A/G] NM_004973,NM_001267040 JARID2,JARID2 EXON Missense_R1127Q,Missense_R955Q exm2257613 6 15517493 [T/C] NM_004973,NM_001267040 JARID2,JARID2 EXON Synonymous_Y1184Y,Synonymous_Y1012Y exm517891 6 15523376 [A/G] NM_032122,NM_001271669,NM_001271668,NM_001271667 DTNBP1,DTNBP1,DTNBP1,DTNBP1 EXON Missense_P296S,Missense_P261S,Missense_P279S,Missense_P215S exm517892 6 15523388 [T/C] NM_032122,NM_001271669,NM_001271668,NM_001271667 DTNBP1,DTNBP1,DTNBP1,DTNBP1 EXON Missense_R292G,Missense_R257G,Missense_R275G,Missense_R211G exm517894 6 15523448 [A/G] NM_032122,NM_001271669,NM_001271668,NM_001271667 DTNBP1,DTNBP1,DTNBP1,DTNBP1 EXON Missense_P272S,Missense_P237S,Missense_P255S,Missense_P191S exm517898 6 15524661 [T/C] NM_032122,NM_001271669,NM_001271668,NM_001271667,NR_036448,NM_183040 DTNBP1,DTNBP1,DTNBP1,DTNBP1,DTNBP1,DTNBP1 EXON Silent,Silent,Silent,Silent,Silent,Missense_A303T exm517901 6 15524679 [A/G] NM_032122,NM_001271669,NM_001271668,NM_001271667,NR_036448,NM_183040 DTNBP1,DTNBP1,DTNBP1,DTNBP1,DTNBP1,DTNBP1 EXON Silent,Silent,Silent,Silent,Silent,Missense_H297Y exm517906 6 15524715 [A/G] NM_032122,NM_001271669,NM_001271668,NM_001271667,NR_036448,NM_183040 DTNBP1,DTNBP1,DTNBP1,DTNBP1,DTNBP1,DTNBP1 EXON Silent,Silent,Silent,Silent,Silent,Nonsense_R285X exm517917 6 15533469 [A/G] NM_032122,NM_001271669,NM_001271668,NM_001271667,NR_036448,NM_183040 DTNBP1,DTNBP1,DTNBP1,DTNBP1,DTNBP1,DTNBP1 Silent,Silent,Silent,Silent,Silent,Silent exm517918 6 15533476 [T/C] NM_032122,NM_001271669,NM_001271668,NM_001271667,NR_036448,NM_183040 DTNBP1,DTNBP1,DTNBP1,DTNBP1,DTNBP1,DTNBP1 EXON Missense_R221Q,Missense_R186Q,Missense_R204Q,Missense_R140Q,Silent,Missense_R221Q exm517933 6 15615499 [T/G] NM_032122,NM_001271669,NM_001271668,NM_001271667,NR_036448,NM_183040 DTNBP1,DTNBP1,DTNBP1,DTNBP1,DTNBP1,DTNBP1 EXON Synonymous_R163R,Synonymous_R128R,Synonymous_R146R,Synonymous_R82R,Silent,Synonymous_R163R exm2270294 6 15625808 [T/C] NM_032122,NM_001271669,NM_001271668,NM_001271667,NR_036448,NM_183040 DTNBP1,DTNBP1,DTNBP1,DTNBP1,DTNBP1,DTNBP1 Silent,Silent,Silent,Silent,Silent,Silent exm2277310 6 15638035 [C/G] NM_032122,NM_001271669,NM_001271668,NM_001271667,NR_036448,NM_183040 DTNBP1,DTNBP1,DTNBP1,DTNBP1,DTNBP1,DTNBP1 EXON Missense_R54S,Synonymous_G19G,Missense_R37S,Silent,Silent,Missense_R54S exm-rs13199398 6 15713820 [A/G] exm-rs3757354 6 16127407 [T/C] exm517969 6 16129603 [T/C] NM_013262 MYLIP EXON Missense_V17A exm517971 6 16130851 [A/G] NM_013262 MYLIP EXON Missense_G51S exm517982 6 16143337 [A/T] NM_013262 MYLIP EXON Missense_N184I exm517983 6 16143363 [T/C] NM_013262 MYLIP EXON Missense_R193W exm517985 6 16143390 [A/C] NM_013262 MYLIP EXON Missense_I202L exm517987 6 16143437 [C/G] NM_013262 MYLIP EXON Missense_S217R exm517991 6 16143953 [T/C] NM_013262 MYLIP EXON Missense_M229T exm518004 6 16145315 [A/G] NM_013262 MYLIP EXON Missense_V339I exm518005 6 16145325 [A/G] NM_013262 MYLIP EXON Missense_N342S exm518006 6 16145349 [T/C] NM_013262 MYLIP EXON Missense_P350L exm518026 6 16146902 [A/G] NM_013262 MYLIP EXON Missense_V420I exm2264193 6 16168414 [A/C] exm-rs2142672 6 16197194 [A/G] exm518045 6 16247181 [A/G] NM_006877 GMPR EXON Missense_V66M exm518056 6 16254949 [T/C] NM_006877 GMPR EXON Missense_P150S exm518077 6 16286061 [A/C] NM_006877 GMPR EXON Missense_A231D exm518079 6 16290693 [G/C] NM_006877 GMPR EXON Missense_G233A exm518080 6 16290696 [T/C] NM_006877 GMPR EXON Missense_A234V exm518084 6 16290756 [A/C] NM_006877 GMPR EXON Missense_E254A exm518085 6 16290761 [T/A] NM_006877 GMPR EXON Missense_F256I exm518089 6 16290830 [A/G] NM_006877 GMPR EXON Missense_A279T exm518094 6 16295278 [T/A] NM_006877 GMPR EXON Missense_D300V exm518103 6 16295401 [A/G] NM_006877 GMPR EXON Missense_N341S exm518105 6 16306571 [T/C] NM_000332,NM_001128164 ATXN1,ATXN1 EXON Missense_V813I,Missense_V813I exm518107 6 16306631 [T/G] NM_000332,NM_001128164 ATXN1,ATXN1 EXON Missense_L793I,Missense_L793I exm518108 6 16306672 [G/C] NM_000332,NM_001128164 ATXN1,ATXN1 EXON Missense_S779T,Missense_S779T exm518110 6 16306751 [A/G] NM_000332,NM_001128164 ATXN1,ATXN1 EXON Missense_P753S,Missense_P753S exm518116 6 16306858 [A/G] NM_000332,NM_001128164 ATXN1,ATXN1 EXON Missense_A717V,Missense_A717V exm518117 6 16306865 [T/C] NM_000332,NM_001128164 ATXN1,ATXN1 EXON Missense_G715S,Missense_G715S exm518126 6 16307026 [G/C] NM_000332,NM_001128164 ATXN1,ATXN1 EXON Missense_C661S,Missense_C661S exm-rs179993 6 16321792 [A/C] NM_000332,NM_001128164 ATXN1,ATXN1 Silent,Silent exm2243466 6 16326842 [A/G] NM_000332,NM_001128164 ATXN1,ATXN1 EXON Missense_P567L,Missense_P567L exm518143 6 16326864 [T/C] NM_000332,NM_001128164 ATXN1,ATXN1 EXON Missense_V560M,Missense_V560M exm518156 6 16327143 [T/C] NM_000332,NM_001128164 ATXN1,ATXN1 EXON Missense_G467S,Missense_G467S exm518171 6 16327335 [A/G] NM_000332,NM_001128164 ATXN1,ATXN1 EXON Missense_R403C,Missense_R403C exm518212 6 16327770 [A/C] NM_000332,NM_001128164 ATXN1,ATXN1 EXON Missense_G258C,Missense_G258C exm518239 6 16327939 [A/C] NM_000332,NM_001128164 ATXN1,ATXN1 EXON Missense_Q201H,Missense_Q201H exm518243 6 16327986 [A/T] NM_000332,NM_001128164 ATXN1,ATXN1 EXON Missense_S186C,Missense_S186C exm518253 6 16328154 [T/G] NM_000332,NM_001128164 ATXN1,ATXN1 EXON Missense_I130L,Missense_I130L exm518264 6 16328268 [T/C] NM_000332,NM_001128164 ATXN1,ATXN1 EXON Missense_A92T,Missense_A92T exm518274 6 16328417 [C/G] NM_000332,NM_001128164 ATXN1,ATXN1 EXON Missense_G42A,Missense_G42A exm518278 6 16328447 [G/C] NM_000332,NM_001128164 ATXN1,ATXN1 EXON Missense_T32S,Missense_T32S exm2266159 6 16698022 [A/G] NM_000332,NM_001128164 ATXN1,ATXN1 Silent,Silent exm-rs697739 6 16742033 [T/C] NM_000332,NM_001128164 ATXN1,ATXN1 Silent,Silent exm518286 6 17115281 [T/G] NM_001190766 STMND1 EXON Missense_G57V exm518305 6 17292048 [A/G] NM_001143942,NM_001143941,NM_153020 RBM24,RBM24,RBM24 EXON Missense_V137I,Missense_V79I,Missense_V92I exm2262096 6 17404165 [T/G] NM_006366 CAP2 Silent exm518325 6 17421824 [A/G] NM_006366 CAP2 EXON Missense_R13Q exm2117433 6 17426858 [A/G] NM_006366 CAP2 EXON Missense_M53I exm2266160 6 17494348 [A/G] NM_006366 CAP2 Silent exm518340 6 17507500 [T/C] NM_006366 CAP2 EXON Missense_S134L exm518343 6 17507935 [A/G] NM_006366 CAP2 EXON Missense_V170I exm2117447 6 17539572 [T/C] NM_006366 CAP2 EXON Missense_P237S exm518356-other 6 17541205 [A/G] NM_006366 CAP2 EXON Synonymous_G276G exm518356 6 17541205 [A/G] NM_006366 CAP2 EXON Synonymous_G276G exm518366 6 17541308 [A/G] NM_006366 CAP2 EXON Missense_T311A exm518367 6 17541324 [A/G] NM_006366 CAP2 EXON Missense_Y316C exm518480 6 17616405 [A/C] NM_005124 NUP153 EXON Missense_G1451W exm518484 6 17616798 [A/C] NM_005124 NUP153 EXON Missense_G1435C exm518492 6 17616926 [C/G] NM_005124 NUP153 EXON Missense_S1392T exm2117473 6 17624849 [T/C] NM_005124 NUP153 EXON Missense_V1373M exm518498 6 17624926 [G/C] NM_005124 NUP153 EXON Missense_S1347C exm518510 6 17626144 [T/C] NM_005124 NUP153 EXON Missense_T1266A exm518516 6 17626299 [T/C] NM_005124 NUP153 EXON Missense_S1214N exm2117482 6 17626336 [T/C] NM_005124 NUP153 EXON Missense_T1202A exm518526 6 17629141 [T/C] NM_005124 NUP153 EXON Missense_V1097M exm518533 6 17629240 [T/C] NM_005124 NUP153 EXON Missense_T1064A exm518534 6 17629263 [T/C] NM_005124 NUP153 EXON Missense_K1056R exm518536 6 17629284 [T/C] NM_005124 NUP153 EXON Missense_N1049S exm518552 6 17629629 [A/G] NM_005124 NUP153 EXON Missense_I934T exm2117495 6 17632939 [C/G] NM_005124 NUP153 EXON Missense_D867E exm518563 6 17633033 [G/C] NM_005124 NUP153 EXON Missense_S836C exm518564 6 17633061 [T/C] NM_005124 NUP153 EXON Missense_A827T exm518571 6 17637386 [A/G] NM_005124 NUP153 EXON Missense_P821L exm518576 6 17637566 [G/C] NM_005124 NUP153 EXON Missense_T761R exm518582 6 17637697 [C/G] NM_005124 NUP153 EXON Missense_D717E exm518595 6 17637900 [T/C] NM_005124 NUP153 EXON Missense_I650V exm518597 6 17637956 [C/G] NM_005124 NUP153 EXON Missense_A631G exm518599 6 17637979 [A/C] NM_005124 NUP153 EXON Missense_D623E exm518602 6 17640187 [T/G] NM_005124 NUP153 EXON Missense_D610A exm518607 6 17646313 [T/C] NM_005124 NUP153 EXON Missense_I569V exm518609 6 17646360 [A/G] NM_005124 NUP153 EXON Missense_V553A exm518612 6 17648067 [T/C] NM_005124 NUP153 EXON Missense_T535A exm518623 6 17649419 [T/C] NM_005124 NUP153 EXON Missense_N503S exm518627 6 17649473 [A/G] NM_005124 NUP153 EXON Missense_P485L exm518629 6 17649494 [A/G] NM_005124 NUP153 EXON Missense_P478L exm518632 6 17661922 [T/C] NM_005124 NUP153 EXON Missense_R453G exm518633 6 17661927 [T/C] NM_005124 NUP153 EXON Missense_R451Q exm518635 6 17662261 [T/G] NM_005124 NUP153 EXON Missense_E419A exm518640 6 17665479 [G/C] NM_005124 NUP153 EXON Missense_N402K exm2117527 6 17669692 [A/T] NM_005124 NUP153 EXON Missense_Q313L exm518663 6 17675246 [T/C] NM_005124 NUP153 EXON Missense_I248V exm518664 6 17675498 [T/G] NM_005124 NUP153 EXON Missense_P229T exm2117535 6 17675975 [T/C] NM_005124 NUP153 EXON Missense_N121D exm518678 6 17688693 [T/C] NM_005124 NUP153 EXON Missense_D90N exm518681 6 17688738 [C/G] NM_005124 NUP153 EXON Missense_V75L exm-rs12199222 6 17699322 [T/G] NM_005124 NUP153 Silent exm518687 6 17706524 [T/C] NM_005124 NUP153 EXON Missense_G32E exm518699 6 17764360 [T/C] NM_001105568,NM_001105567,NM_001105566,NM_022113 KIF13A,KIF13A,KIF13A,KIF13A EXON Silent,Nonsense_W1752X,Nonsense_W1765X,Nonsense_W1800X exm518700 6 17764395 [A/C] NM_001105568,NM_001105567,NM_001105566,NM_022113 KIF13A,KIF13A,KIF13A,KIF13A EXON Missense_E1740D,Missense_E1740D,Missense_E1753D,Missense_E1788D exm518703 6 17764451 [T/C] NM_001105568,NM_001105567,NM_001105566,NM_022113 KIF13A,KIF13A,KIF13A,KIF13A EXON Missense_G1722S,Missense_G1722S,Missense_G1735S,Missense_G1770S exm518705 6 17764465 [A/G] NM_001105568,NM_001105567,NM_001105566,NM_022113 KIF13A,KIF13A,KIF13A,KIF13A EXON Missense_P1717L,Missense_P1717L,Missense_P1730L,Missense_P1765L exm518706 6 17764488 [G/C] NM_001105568,NM_001105567,NM_001105566,NM_022113 KIF13A,KIF13A,KIF13A,KIF13A EXON Missense_E1709D,Missense_E1709D,Missense_E1722D,Missense_E1757D exm518709 6 17764534 [A/G] NM_001105568,NM_001105567,NM_001105566,NM_022113 KIF13A,KIF13A,KIF13A,KIF13A EXON Missense_S1694L,Missense_S1694L,Missense_S1707L,Missense_S1742L exm518710 6 17764579 [A/G] NM_001105568,NM_001105567,NM_001105566,NM_022113 KIF13A,KIF13A,KIF13A,KIF13A EXON Missense_T1679I,Missense_T1679I,Missense_T1692I,Missense_T1727I exm518721 6 17764793 [T/C] NM_001105568,NM_001105567,NM_001105566,NM_022113 KIF13A,KIF13A,KIF13A,KIF13A EXON Missense_E1608K,Missense_E1608K,Missense_E1621K,Missense_E1656K exm518723 6 17764812 [T/G] NM_001105568,NM_001105567,NM_001105566,NM_022113 KIF13A,KIF13A,KIF13A,KIF13A EXON Missense_N1601K,Missense_N1601K,Missense_N1614K,Missense_N1649K exm518725 6 17764896 [G/C] NM_001105568,NM_001105567,NM_001105566,NM_022113 KIF13A,KIF13A,KIF13A,KIF13A EXON Missense_D1573E,Missense_D1573E,Missense_D1586E,Missense_D1621E exm518728 6 17764960 [A/G] NM_001105568,NM_001105567,NM_001105566,NM_022113 KIF13A,KIF13A,KIF13A,KIF13A EXON Missense_F1552S,Missense_F1552S,Missense_F1565S,Missense_F1600S exm518730 6 17764996 [T/C] NM_001105568,NM_001105567,NM_001105566,NM_022113 KIF13A,KIF13A,KIF13A,KIF13A EXON Missense_R1540H,Missense_R1540H,Missense_R1553H,Missense_R1588H exm518753 6 17773790 [T/C] NM_001105568,NM_001105567,NM_001105566,NM_022113 KIF13A,KIF13A,KIF13A,KIF13A EXON Missense_M1402V,Missense_M1402V,Missense_M1415V,Missense_M1415V exm518757 6 17775277 [A/G] NM_001105568,NM_001105567,NM_001105566,NM_022113 KIF13A,KIF13A,KIF13A,KIF13A EXON Missense_P1383L,Missense_P1383L,Missense_P1396L,Missense_P1396L exm518778 6 17781037 [A/G] NM_001105568,NM_001105567,NM_001105566,NM_022113 KIF13A,KIF13A,KIF13A,KIF13A EXON Missense_T1244I,Missense_T1244I,Missense_T1257I,Missense_T1257I exm518779 6 17781080 [T/C] NM_001105568,NM_001105567,NM_001105566,NM_022113 KIF13A,KIF13A,KIF13A,KIF13A EXON Missense_V1230I,Missense_V1230I,Missense_V1243I,Missense_V1243I exm518782 6 17781428 [T/C] NM_001105568,NM_001105567,NM_001105566,NM_022113 KIF13A,KIF13A,KIF13A,KIF13A EXON Missense_I1204V,Missense_I1204V,Missense_I1217V,Missense_I1217V exm518787 6 17781508 [T/G] NM_001105568,NM_001105567,NM_001105566,NM_022113 KIF13A,KIF13A,KIF13A,KIF13A EXON Missense_Q1177P,Missense_Q1177P,Missense_Q1190P,Missense_Q1190P exm518788 6 17781532 [A/G] NM_001105568,NM_001105567,NM_001105566,NM_022113 KIF13A,KIF13A,KIF13A,KIF13A EXON Missense_A1169V,Missense_A1169V,Missense_A1182V,Missense_A1182V exm518795 6 17788088 [C/G] NM_001105568,NM_001105567,NM_001105566,NM_022113 KIF13A,KIF13A,KIF13A,KIF13A EXON Missense_V1081L,Missense_V1081L,Missense_V1094L,Missense_V1094L exm518800 6 17794837 [T/C] NM_001105568,NM_001105567,NM_001105566,NM_022113 KIF13A,KIF13A,KIF13A,KIF13A EXON Missense_D1014G,Missense_D1014G,Missense_D1014G,Missense_D1014G exm518805 6 17796933 [T/G] NM_001105568,NM_001105567,NM_001105566,NM_022113 KIF13A,KIF13A,KIF13A,KIF13A EXON Missense_S970Y,Missense_S970Y,Missense_S970Y,Missense_S970Y exm518810 6 17799550 [A/G] NM_001105568,NM_001105567,NM_001105566,NM_022113 KIF13A,KIF13A,KIF13A,KIF13A EXON Missense_P913S,Missense_P913S,Missense_P913S,Missense_P913S exm518812 6 17799592 [A/T] NM_001105568,NM_001105567,NM_001105566,NM_022113 KIF13A,KIF13A,KIF13A,KIF13A EXON Missense_C899S,Missense_C899S,Missense_C899S,Missense_C899S exm518815 6 17800221 [T/C] NM_001105568,NM_001105567,NM_001105566,NM_022113 KIF13A,KIF13A,KIF13A,KIF13A EXON Missense_G860R,Missense_G860R,Missense_G860R,Missense_G860R exm518817 6 17800230 [T/C] NM_001105568,NM_001105567,NM_001105566,NM_022113 KIF13A,KIF13A,KIF13A,KIF13A EXON Missense_D857N,Missense_D857N,Missense_D857N,Missense_D857N exm518834 6 17805777 [T/G] NM_001105568,NM_001105567,NM_001105566,NM_022113 KIF13A,KIF13A,KIF13A,KIF13A EXON Missense_I745L,Missense_I745L,Missense_I745L,Missense_I745L exm518849 6 17817372 [T/C] NM_001105568,NM_001105567,NM_001105566,NM_022113 KIF13A,KIF13A,KIF13A,KIF13A EXON Missense_E627K,Missense_E627K,Missense_E627K,Missense_E627K exm2243552 6 17817389 [T/C] NM_001105568,NM_001105567,NM_001105566,NM_022113 KIF13A,KIF13A,KIF13A,KIF13A EXON Missense_R621Q,Missense_R621Q,Missense_R621Q,Missense_R621Q exm518856 6 17826151 [T/C] NM_001105568,NM_001105567,NM_001105566,NM_022113 KIF13A,KIF13A,KIF13A,KIF13A EXON Missense_K545R,Missense_K545R,Missense_K545R,Missense_K545R exm518860 6 17828506 [A/G] NM_001105568,NM_001105567,NM_001105566,NM_022113 KIF13A,KIF13A,KIF13A,KIF13A EXON Synonymous_D499D,Synonymous_D499D,Synonymous_D499D,Synonymous_D499D exm2257673 6 17828506 [A/G] NM_001105568,NM_001105567,NM_001105566,NM_022113 KIF13A,KIF13A,KIF13A,KIF13A EXON Synonymous_D499D,Synonymous_D499D,Synonymous_D499D,Synonymous_D499D exm518864 6 17831401 [T/A] NM_001105568,NM_001105567,NM_001105566,NM_022113 KIF13A,KIF13A,KIF13A,KIF13A EXON Missense_D444E,Missense_D444E,Missense_D444E,Missense_D444E exm518870 6 17834269 [T/C] NM_001105568,NM_001105567,NM_001105566,NM_022113 KIF13A,KIF13A,KIF13A,KIF13A EXON Missense_E397K,Missense_E397K,Missense_E397K,Missense_E397K exm2257674 6 17837268 [A/G] NM_001105568,NM_001105567,NM_001105566,NM_022113 KIF13A,KIF13A,KIF13A,KIF13A EXON Synonymous_A332A,Synonymous_A332A,Synonymous_A332A,Synonymous_A332A exm518879 6 17837734 [T/A] NM_001105568,NM_001105567,NM_001105566,NM_022113 KIF13A,KIF13A,KIF13A,KIF13A EXON Missense_Y304F,Missense_Y304F,Missense_Y304F,Missense_Y304F exm518884 6 17850576 [A/G] NM_001105568,NM_001105567,NM_001105566,NM_022113 KIF13A,KIF13A,KIF13A,KIF13A EXON Missense_T232I,Missense_T232I,Missense_T232I,Missense_T232I exm518891 6 17855690 [A/G] NM_001105568,NM_001105567,NM_001105566,NM_022113 KIF13A,KIF13A,KIF13A,KIF13A EXON Missense_R158W,Missense_R158W,Missense_R158W,Missense_R158W exm518897 6 17873622 [C/G] NM_001105568,NM_001105567,NM_001105566,NM_022113 KIF13A,KIF13A,KIF13A,KIF13A EXON Missense_T69S,Missense_T69S,Missense_T69S,Missense_T69S exm518898 6 17873630 [T/G] NM_001105568,NM_001105567,NM_001105566,NM_022113 KIF13A,KIF13A,KIF13A,KIF13A EXON Missense_E66D,Missense_E66D,Missense_E66D,Missense_E66D exm518905 6 17987309 [A/G] NM_001105568,NM_001105567,NM_001105566,NM_022113,NM_001243423 KIF13A,KIF13A,KIF13A,KIF13A,KIF13A EXON Missense_P41L,Missense_P41L,Missense_P41L,Missense_P41L,Missense_P41L exm2270455 6 18055908 [T/C] exm2117658 6 18121747 [A/G] NM_198586 NHLRC1 EXON Missense_S364L exm518920 6 18121964 [T/A] NM_198586 NHLRC1 EXON Missense_T292S exm518934 6 18122157 [T/A] NM_198586 NHLRC1 EXON Missense_N227K exm518939 6 18122287 [T/C] NM_198586 NHLRC1 EXON Missense_N184S exm2117662 6 18122360 [A/G] NM_198586 NHLRC1 EXON Missense_C160R exm518941 6 18122416 [A/G] NM_198586 NHLRC1 EXON Missense_V141A exm518956 6 18130918 [T/C] NM_000367 TPMT EXON Missense_Y240C exm518959 6 18130960 [T/C] NM_000367 TPMT EXON Missense_R226Q exm518960 6 18130993 [T/C] NM_000367 TPMT EXON Missense_R215H exm2274123 6 18134076 [T/A] NM_000367 TPMT EXON Missense_Y180F exm518964 6 18134078 [A/C] NM_000367 TPMT EXON Missense_Q179H exm518966 6 18139200 [T/C] NM_000367 TPMT EXON Missense_R163H exm518967 6 18139201 [A/G] NM_000367 TPMT EXON Missense_R163C exm518970 6 18139228 [T/C] NM_000367 TPMT EXON Missense_A154T exm518975 6 18139941 [A/G] NM_000367 TPMT EXON Missense_S125L exm518979 6 18143837 [T/G] NM_000367 TPMT EXON Missense_K119T exm518982 6 18143901 [A/C] NM_000367 TPMT EXON Nonsense_E98X exm518984 6 18143955 [G/C] NM_000367 TPMT EXON Missense_A80P exm518987 6 18148082 [C/G] NM_000367 TPMT EXON Missense_L69V exm518996 6 18161559 [T/C] NM_153042 KDM1B EXON Missense_A30V exm519004 6 18161646 [T/C] NM_153042 KDM1B EXON Missense_T59M exm2266161 6 18170524 [A/G] NM_153042 KDM1B Silent exm519012 6 18171661 [A/C] NM_153042 KDM1B EXON Missense_Q162P exm519014 6 18171684 [A/G] NM_153042 KDM1B EXON Missense_G170S exm519029 6 18197821 [T/C] NM_153042 KDM1B EXON Missense_S252P exm519039 6 18207760 [A/G] NM_153042 KDM1B EXON Synonymous_P365P exm519041 6 18208415 [A/G] NM_153042 KDM1B EXON Missense_G383D exm519042 6 18208421 [T/G] NM_153042 KDM1B EXON Missense_G385V exm519047 6 18212777 [T/C] NM_153042 KDM1B EXON Missense_P410L exm519048 6 18212794 [T/A] NM_153042 KDM1B EXON Missense_M416L exm519088 6 18249937 [T/C] NM_003472,NM_001134709 DEK,DEK EXON Missense_E236G,Missense_E202G exm519094 6 18256625 [A/G] NM_003472,NM_001134709 DEK,DEK EXON Missense_V140A,Missense_V106A exm519097 6 18258233 [G/C] NM_003472,NM_001134709 DEK,DEK EXON Missense_T103S,Missense_T69S exm519107 6 18264096 [G/C] NM_003472,NM_001134709 DEK,DEK EXON Missense_E41D,Missense_E41D exm519138 6 18399836 [T/C] NM_182757 RNF144B EXON Missense_P24L exm2117749 6 18399841 [T/C] NM_182757 RNF144B EXON Missense_P26S exm519143 6 18399889 [T/A] NM_182757 RNF144B EXON Missense_M42L exm519147 6 18427851 [T/C] NM_182757 RNF144B EXON Missense_C69R exm519160 6 18457538 [A/G] NM_182757 RNF144B EXON Missense_A162T exm519168 6 18459951 [T/C] NM_182757 RNF144B EXON Missense_T217I exm519173 6 18465264 [T/G] NM_182757 RNF144B EXON Missense_G293V exm2264165 6 18688794 [A/C] exm-rs41441749 6 18791723 [T/C] exm2266162 6 19129805 [A/G] exm2270297 6 19665871 [T/C] exm2270456 6 19739943 [T/C] exm-rs1047014 6 19841493 [T/C] NM_001546 ID4 EXON Silent exm-rs16883019 6 19969638 [T/C] exm519228 6 20109842 [T/C] NR_073465,NM_001080480 MBOAT1,MBOAT1 EXON Silent,Missense_I450V exm519237 6 20109944 [T/C] NR_073465,NM_001080480 MBOAT1,MBOAT1 EXON Silent,Missense_R416G exm519238 6 20109956 [A/G] NR_073465,NM_001080480 MBOAT1,MBOAT1 EXON Silent,Missense_F412L exm519240 6 20113124 [T/C] NR_073465,NM_001080480 MBOAT1,MBOAT1 EXON Silent,Missense_T398A exm519242 6 20113207 [A/G] NR_073465,NM_001080480 MBOAT1,MBOAT1 EXON Silent,Missense_T370M exm519244 6 20113225 [A/C] NR_073465,NM_001080480 MBOAT1,MBOAT1 EXON Silent,Missense_R364L exm2264166 6 20115177 [A/C] NR_073465,NM_001080480 MBOAT1,MBOAT1 Silent,Silent exm519255 6 20118672 [A/G] NR_073465,NM_001080480 MBOAT1,MBOAT1 EXON Silent,Missense_I336T exm2257681 6 20118734 [A/G] NR_073465,NM_001080480 MBOAT1,MBOAT1 EXON Silent,Synonymous_S315S exm519283 6 20144451 [A/C] NR_073465,NM_001080480 MBOAT1,MBOAT1 EXON Silent,Missense_G140V exm519285 6 20144525 [T/C] NR_073465,NM_001080480 MBOAT1,MBOAT1 EXON Silent,Missense_M115I exm519289 6 20151441 [T/A] NR_073465,NM_001080480 MBOAT1,MBOAT1 EXON Silent,Missense_T100S exm519290 6 20151450 [T/C] NR_073465,NM_001080480 MBOAT1,MBOAT1 EXON Silent,Missense_I97V exm519295 6 20152939 [A/G] NR_073465,NM_001080480 MBOAT1,MBOAT1 EXON Silent,Missense_L54S exm-rs1202199 6 20156174 [T/C] NR_073465,NM_001080480 MBOAT1,MBOAT1 Silent,Silent exm519302 6 20212410 [T/C] NR_073465,NM_001080480 MBOAT1,MBOAT1 EXON Silent,Missense_Y19C exm519313 6 20402611 [A/G] NM_001949 E2F3 EXON Missense_A50T exm2264194 6 20442308 [A/C] NM_001949,NM_001243076 E2F3,E2F3 Silent,Silent exm519329 6 20486920 [A/G] NM_001949,NM_001243076 E2F3,E2F3 EXON Synonymous_R295R,Synonymous_R164R exm519330 6 20486955 [T/G] NM_001949,NM_001243076 E2F3,E2F3 EXON Missense_I307S,Missense_I176S exm519334 6 20488419 [A/C] NM_001949,NM_001243076 E2F3,E2F3 EXON Missense_S359R,Missense_S228R exm519336 6 20488470 [A/G] NM_001949,NM_001243076 E2F3,E2F3 EXON Missense_A376T,Missense_A245T exm519339 6 20490464 [T/G] NM_001949,NM_001243076 E2F3,E2F3 EXON Missense_A401S,Missense_A270S exm519352 6 20546697 [A/G] NM_017774 CDKAL1 EXON Missense_R39Q exm519353 6 20546703 [A/G] NM_017774 CDKAL1 EXON Missense_R41Q exm519356 6 20546745 [G/C] NM_017774 CDKAL1 EXON Missense_P55R exm519361 6 20548877 [A/G] NM_017774 CDKAL1 EXON Missense_N76S exm-rs9295474 6 20652717 [C/G] NM_017774 CDKAL1 Silent exm-rs4712523 6 20657564 [A/G] NM_017774 CDKAL1 Silent exm-rs4712524 6 20657865 [A/G] NM_017774 CDKAL1 Silent exm-rs10946398 6 20661034 [A/C] NM_017774 CDKAL1 Silent exm-rs7754840 6 20661250 [C/G] NM_017774 CDKAL1 Silent exm-rs7756992 6 20679709 [A/G] NM_017774 CDKAL1 Silent exm-rs10440833 6 20688121 [A/T] NM_017774 CDKAL1 Silent exm-rs2206734 6 20694884 [T/C] NM_017774 CDKAL1 Silent exm-rs9465871 6 20717255 [T/C] NM_017774 CDKAL1 Silent exm-rs6908425 6 20728731 [T/C] NM_017774 CDKAL1 Silent exm519377 6 20739821 [A/G] NM_017774 CDKAL1 EXON Missense_Y148C exm2266163 6 20856703 [A/G] NM_017774 CDKAL1 Silent exm519402 6 21000533 [A/G] NM_017774 CDKAL1 EXON Missense_V329I exm519411 6 21065449 [T/C] NM_017774 CDKAL1 EXON Missense_P409L exm2257684 6 21081206 [T/C] NM_017774 CDKAL1 Silent exm519418 6 21201408 [A/G] NM_017774 CDKAL1 EXON Missense_K484R exm-rs9466056 6 21384613 [A/G] exm519437 6 21594828 [A/C] NM_003107 SOX4 EXON Missense_D21E exm519487 6 21595968 [C/G] NM_003107 SOX4 EXON Missense_F401L exm2243564 6 21596011 [A/G] NM_003107 SOX4 EXON Missense_S416G exm2266164 6 21789088 [A/G] NR_015410 LINC00340 Silent exm2262102 6 22003895 [A/C] NR_015410 LINC00340 Silent exm-rs4712653 6 22125964 [T/C] NR_015410 LINC00340 Silent exm-rs6939340 6 22140004 [A/G] NR_015410,NR_034143 LINC00340,LOC729177 Silent,Silent exm-rs4236016 6 22246604 [T/C] exm2257686 6 22281258 [A/G] exm2117904 6 22287768 [A/C] NM_001163558,NM_000948 PRL,PRL EXON Missense_S183A,Missense_S183A exm519513 6 22290438 [A/G] NM_001163558,NM_000948 PRL,PRL EXON Missense_R153W,Missense_R153W exm519519 6 22290545 [T/C] NM_001163558,NM_000948 PRL,PRL EXON Missense_R117Q,Missense_R117Q exm519525 6 22292810 [A/G] NM_001163558,NM_000948 PRL,PRL EXON Missense_S90F,Missense_S90F exm519537 6 22297187 [T/C] NM_001163558,NM_000948 PRL,PRL EXON Missense_K9E,Missense_K9E exm-rs1341239 6 22304204 [A/C] exm519551 6 22569920 [A/T] NM_138574 HDGFL1 EXON Missense_Q39L exm519555 6 22569968 [A/G] NM_138574 HDGFL1 EXON Missense_R55H exm519560 6 22570064 [T/C] NM_138574 HDGFL1 EXON Missense_T87M exm519562 6 22570103 [A/G] NM_138574 HDGFL1 EXON Missense_G100D exm519566 6 22570206 [C/G] NM_138574 HDGFL1 EXON Missense_D134E exm519574 6 22570483 [A/G] NM_138574 HDGFL1 EXON Missense_E227K exm519576 6 22570525 [A/G] NM_138574 HDGFL1 EXON Missense_E241K exm-rs7753473 6 22726200 [A/G] exm2257687 6 22735375 [A/G] exm-rs10498712 6 22743403 [A/G] exm2262103 6 23191842 [T/C] exm2257690 6 23774487 [A/G] exm-rs6922632 6 24107093 [A/C] exm519583 6 24134611 [A/G] NM_080723 NRSN1 EXON Missense_G19D exm519597 6 24145896 [T/C] NM_080723 NRSN1 EXON Missense_H104Y exm519605 6 24146086 [T/C] NM_080723 NRSN1 EXON Missense_P167L exm519618 6 24175021 [T/A] NM_016356,NM_001195610 DCDC2,DCDC2 EXON Missense_K456N,Missense_K456N exm519627 6 24178670 [T/C] NM_016356,NM_001195610 DCDC2,DCDC2 EXON Missense_N405S,Missense_N405S exm519629 6 24178676 [T/C] NM_016356,NM_001195610 DCDC2,DCDC2 EXON Missense_R403H,Missense_R403H exm519634 6 24178818 [T/C] NM_016356,NM_001195610 DCDC2,DCDC2 EXON Missense_A356T,Missense_A356T exm519639 6 24205244 [C/G] NM_016356,NM_001195610 DCDC2,DCDC2 EXON Missense_V337L,Missense_V337L exm-rs793834 6 24234933 [A/G] NM_016356,NM_001195610 DCDC2,DCDC2 Silent,Silent exm519651 6 24278382 [A/G] NM_016356,NM_001195610 DCDC2,DCDC2 EXON Missense_P273S,Missense_P273S exm519660 6 24289124 [A/C] NM_016356,NM_001195610 DCDC2,DCDC2 EXON Missense_S239A,Missense_S239A exm519663 6 24291203 [T/C] NM_016356,NM_001195610 DCDC2,DCDC2 EXON Missense_S221G,Missense_S221G exm519672 6 24302036 [T/C] NM_016356,NM_001195610 DCDC2,DCDC2 EXON Missense_R155H,Missense_R155H exm519673 6 24302046 [G/C] NM_016356,NM_001195610 DCDC2,DCDC2 EXON Missense_P152A,Missense_P152A exm519697 6 24358063 [A/G] NM_016356,NM_001195610,NM_181337 DCDC2,DCDC2,KAAG1 EXON Silent,Silent,Missense_A66T exm-rs9393553 6 24401654 [T/G] exm519703 6 24403275 [A/G] NM_020662 MRS2 EXON Missense_M1V exm519709 6 24403377 [T/C] NM_020662 MRS2 EXON Missense_P35S exm519711 6 24403411 [T/C] NM_020662 MRS2 EXON Missense_I46T exm519715 6 24403455 [T/C] NM_020662 MRS2 EXON Missense_R61C exm519728 6 24412452 [T/G] NM_020662 MRS2 EXON Nonsense_Y139X exm519733 6 24412567 [A/G] NM_020662 MRS2 EXON Missense_V178I exm2243569 6 24418463 [A/G] NM_020662 MRS2 EXON Missense_S330G exm519774 6 24423277 [T/C] NM_020662 MRS2 EXON Missense_M407T exm519777 6 24423824 [T/C] NM_020662 MRS2 EXON Missense_P412S exm519782 6 24423918 [A/G] NM_020662 MRS2 EXON Missense_R443H exm2273417 6 24424231 [T/G] NM_020662 MRS2 EXON Silent exm2118003 6 24429297 [G/C] NM_001503 GPLD1 EXON Missense_S829C exm2118006 6 24433432 [T/C] NM_001503 GPLD1 EXON Missense_V807M exm519804 6 24436850 [A/G] NM_001503 GPLD1 EXON Missense_M771T exm519809 6 24436901 [T/C] NM_001503 GPLD1 EXON Missense_E754G exm519810 6 24436908 [T/C] NM_001503 GPLD1 EXON Missense_G752R exm519811 6 24436910 [A/G] NM_001503 GPLD1 EXON Missense_I751T exm519820 6 24437445 [A/G] NM_001503 GPLD1 EXON Missense_T698I exm519821 6 24437453 [A/G] NM_001503 GPLD1 EXON Synonymous_Y695Y exm519822 6 24437458 [T/C] NM_001503 GPLD1 EXON Missense_M694V exm519827 6 24437509 [A/T] NM_001503 GPLD1 EXON Missense_S677T exm519828 6 24437512 [T/C] NM_001503 GPLD1 EXON Missense_V676M exm519831 6 24445774 [T/C] NM_001503 GPLD1 EXON Missense_D674N exm519832 6 24445775 [A/G] NM_001503 GPLD1 EXON Synonymous_Y673Y exm519840 6 24446010 [C/G] NM_001503 GPLD1 EXON Missense_V624L exm519842 6 24446037 [A/G] NM_001503 GPLD1 EXON Nonsense_R615X exm519843 6 24446051 [T/C] NM_001503 GPLD1 EXON Missense_H610R exm519847 6 24447166 [T/C] NM_001503 GPLD1 EXON Missense_E574K exm2118024 6 24447177 [A/G] NM_001503 GPLD1 EXON Missense_T570M exm519853 6 24447202 [G/C] NM_001503 GPLD1 EXON Missense_L562V exm519855 6 24448111 [T/C] NM_001503 GPLD1 EXON Missense_D558N exm519866 6 24448394 [T/A] NM_001503 GPLD1 EXON Missense_S497T exm519869 6 24450017 [T/C] NM_001503 GPLD1 EXON Synonymous_K482K exm519873 6 24450058 [T/C] NM_001503 GPLD1 EXON Missense_V469M exm519879 6 24450108 [A/G] NM_001503 GPLD1 EXON Missense_S452L exm519880 6 24450117 [T/C] NM_001503 GPLD1 EXON Missense_R449Q exm519881 6 24450118 [A/G] NM_001503 GPLD1 EXON Missense_R449W exm2118033 6 24454257 [A/G] NM_001503 GPLD1 EXON Missense_L441F exm519885 6 24454313 [T/C] NM_001503 GPLD1 EXON Missense_N422S exm519903 6 24456822 [T/C] NM_001503 GPLD1 EXON Missense_R351K exm519904 6 24456841 [T/C] NM_001503 GPLD1 EXON Missense_A345T exm519907 6 24460508 [A/G] NM_001503 GPLD1 EXON Missense_P336L exm519915 6 24463020 [G/C] NM_001503 GPLD1 EXON Missense_D275E exm2118046 6 24466917 [T/C] NM_001503 GPLD1 EXON Missense_N271S exm519941 6 24467502 [A/C] NM_001503 GPLD1 EXON Missense_W182C exm2257693 6 24473884 [A/G] NM_001503 GPLD1 EXON Synonymous_H151H exm519965 6 24476431 [T/C] NM_001503 GPLD1 EXON Missense_N103S exm519966 6 24476437 [T/C] NM_001503 GPLD1 EXON Missense_R101Q exm519967 6 24476438 [A/G] NM_001503 GPLD1 EXON Nonsense_R101X exm2118064 6 24476451 [A/G] NM_001503 GPLD1 EXON Synonymous_S96S exm519977 6 24480171 [T/C] NM_001503 GPLD1 EXON Missense_Q57R exm519988 6 24489691 [G/C] NM_001503 GPLD1 EXON Missense_L17V exm519990 6 24489733 [G/C] NM_001503 GPLD1 EXON Missense_A3P exm519994 6 24495234 [T/G] NM_170740,NM_001080 ALDH5A1,ALDH5A1 EXON Missense_C4G,Missense_C4G exm520018 6 24503590 [T/C] NM_170740,NM_001080 ALDH5A1,ALDH5A1 EXON Missense_H180Y,Missense_H180Y exm520020 6 24503597 [T/C] NM_170740,NM_001080 ALDH5A1,ALDH5A1 EXON Missense_P182L,Missense_P182L exm520024 6 24503657 [T/C] NM_170740,NM_001080 ALDH5A1,ALDH5A1 EXON Missense_T202I,Missense_T202I exm520027 6 24505099 [A/G] NM_170740,NM_001080 ALDH5A1,ALDH5A1 EXON Nonsense_W204X,Nonsense_W204X exm520033 6 24505196 [T/G] NM_170740,NM_001080 ALDH5A1,ALDH5A1 EXON Missense_A237S,Missense_A237S exm520040 6 24515432 [A/G] NM_170740,NM_001080 ALDH5A1,ALDH5A1 EXON Missense_N268S,Missense_N255S exm520042 6 24515462 [A/C] NM_170740,NM_001080 ALDH5A1,ALDH5A1 EXON Missense_K278T,Missense_K265T exm520047 6 24520644 [A/G] NM_170740,NM_001080 ALDH5A1,ALDH5A1 EXON Missense_A309T,Missense_A296T exm520050 6 24520719 [A/G] NM_170740,NM_001080 ALDH5A1,ALDH5A1 EXON Missense_V334M,Missense_V321M exm520060 6 24528249 [A/G] NM_170740,NM_001080 ALDH5A1,ALDH5A1 EXON Missense_V413I,Missense_V400I exm520061 6 24528262 [C/G] NM_170740,NM_001080 ALDH5A1,ALDH5A1 EXON Missense_A417G,Missense_A404G exm520067 6 24528331 [A/G] NM_170740,NM_001080 ALDH5A1,ALDH5A1 EXON Missense_N440S,Missense_N427S exm520073 6 24532351 [A/G] NM_170740,NM_001080 ALDH5A1,ALDH5A1 EXON Missense_D463N,Missense_D450N exm520079 6 24533753 [A/C] NM_170740,NM_001080 ALDH5A1,ALDH5A1 EXON Missense_D487A,Missense_D474A exm520083 6 24533806 [A/G] NM_170740,NM_001080 ALDH5A1,ALDH5A1 EXON Missense_V505I,Missense_V492I exm520091 6 24533938 [T/C] NM_170740,NM_001080 ALDH5A1,ALDH5A1 EXON Missense_X549Q,Missense_X536Q exm-rs16889440 6 24544967 [T/C] NM_001168376,NM_001168375,NM_014809,NM_001252328,NM_001168374,NM_001168377 KIAA0319,KIAA0319,KIAA0319,KIAA0319,KIAA0319,KIAA0319 EXON Silent,Silent,Silent,Silent,Silent,Silent exm520097 6 24547430 [T/C] NM_001168376,NM_001168375,NM_014809,NM_001252328,NM_001168374,NM_001168377 KIAA0319,KIAA0319,KIAA0319,KIAA0319,KIAA0319,KIAA0319 EXON Missense_N1016S,Missense_N1061S,Missense_N1061S,Missense_N472S,Missense_N1052S,Missense_N1000S exm520102 6 24551664 [T/C] NM_001168376,NM_001168375,NM_014809,NM_001252328,NM_001168374,NM_001168377 KIAA0319,KIAA0319,KIAA0319,KIAA0319,KIAA0319,KIAA0319 EXON Missense_Y968C,Missense_Y1013C,Missense_Y1013C,Missense_Y424C,Missense_Y1004C,Silent exm520114 6 24556922 [T/C] NM_001168376,NM_001168375,NM_014809,NM_001252328,NM_001168374,NM_001168377 KIAA0319,KIAA0319,KIAA0319,KIAA0319,KIAA0319,KIAA0319 EXON Missense_D879N,Missense_D924N,Missense_D924N,Missense_D335N,Missense_D915N,Missense_D924N exm520116 6 24556936 [G/C] NM_001168376,NM_001168375,NM_014809,NM_001252328,NM_001168374,NM_001168377 KIAA0319,KIAA0319,KIAA0319,KIAA0319,KIAA0319,KIAA0319 EXON Missense_G874A,Missense_G919A,Missense_G919A,Missense_G330A,Missense_G910A,Missense_G919A exm520122 6 24559300 [T/C] NM_001168376,NM_001168375,NM_014809,NM_001252328,NM_001168374,NM_001168377 KIAA0319,KIAA0319,KIAA0319,KIAA0319,KIAA0319,KIAA0319 EXON Missense_R847Q,Missense_R892Q,Missense_R892Q,Missense_R303Q,Missense_R883Q,Missense_R892Q exm520129 6 24563606 [A/G] NM_001168376,NM_001168375,NM_014809,NM_001252328,NM_001168374,NM_001168377 KIAA0319,KIAA0319,KIAA0319,KIAA0319,KIAA0319,KIAA0319 EXON Missense_R813W,Missense_R858W,Missense_R858W,Missense_R269W,Missense_R849W,Missense_R858W exm520133 6 24563639 [T/C] NM_001168376,NM_001168375,NM_014809,NM_001252328,NM_001168374,NM_001168377 KIAA0319,KIAA0319,KIAA0319,KIAA0319,KIAA0319,KIAA0319 EXON Missense_V802M,Missense_V847M,Missense_V847M,Missense_V258M,Missense_V838M,Missense_V847M exm520145 6 24564540 [A/G] NM_001168376,NM_001168375,NM_014809,NM_001252328,NM_001168374,NM_001168377 KIAA0319,KIAA0319,KIAA0319,KIAA0319,KIAA0319,KIAA0319 EXON Missense_V729A,Missense_V774A,Missense_V774A,Missense_V185A,Missense_V765A,Missense_V774A exm520146 6 24564544 [T/C] NM_001168376,NM_001168375,NM_014809,NM_001252328,NM_001168374,NM_001168377 KIAA0319,KIAA0319,KIAA0319,KIAA0319,KIAA0319,KIAA0319 EXON Missense_S728G,Missense_S773G,Missense_S773G,Missense_S184G,Missense_S764G,Missense_S773G exm520157 6 24569041 [T/C] NM_001168376,NM_001168375,NM_014809,NM_001252328,NM_001168374,NM_001168377 KIAA0319,KIAA0319,KIAA0319,KIAA0319,KIAA0319,KIAA0319 EXON Missense_S658N,Missense_S703N,Missense_S703N,Missense_S114N,Missense_S694N,Missense_S703N exm520167 6 24572893 [T/C] NM_001168376,NM_001168375,NM_014809,NM_001252328,NM_001168374,NM_001168377 KIAA0319,KIAA0319,KIAA0319,KIAA0319,KIAA0319,KIAA0319 EXON Missense_M545V,Missense_M590V,Missense_M590V,Silent,Missense_M581V,Missense_M590V exm520174 6 24576631 [T/C] NM_001168376,NM_001168375,NM_014809,NM_001252328,NM_001168374,NM_001168377 KIAA0319,KIAA0319,KIAA0319,KIAA0319,KIAA0319,KIAA0319 EXON Missense_G522S,Missense_G567S,Missense_G567S,Silent,Missense_G558S,Missense_G567S exm520176 6 24576643 [G/C] NM_001168376,NM_001168375,NM_014809,NM_001252328,NM_001168374,NM_001168377 KIAA0319,KIAA0319,KIAA0319,KIAA0319,KIAA0319,KIAA0319 EXON Missense_E518Q,Missense_E563Q,Missense_E563Q,Silent,Missense_E554Q,Missense_E563Q exm520181 6 24576771 [T/A] NM_001168376,NM_001168375,NM_014809,NM_001252328,NM_001168374,NM_001168377 KIAA0319,KIAA0319,KIAA0319,KIAA0319,KIAA0319,KIAA0319 EXON Missense_I475K,Missense_I520K,Missense_I520K,Silent,Missense_I511K,Missense_I520K exm2257695 6 24576806 [T/C] NM_001168376,NM_001168375,NM_014809,NM_001252328,NM_001168374,NM_001168377 KIAA0319,KIAA0319,KIAA0319,KIAA0319,KIAA0319,KIAA0319 EXON Synonymous_S463S,Synonymous_S508S,Synonymous_S508S,Silent,Synonymous_S499S,Synonymous_S508S exm520184 6 24576807 [A/G] NM_001168376,NM_001168375,NM_014809,NM_001252328,NM_001168374,NM_001168377 KIAA0319,KIAA0319,KIAA0319,KIAA0319,KIAA0319,KIAA0319 EXON Missense_S463L,Missense_S508L,Missense_S508L,Silent,Missense_S499L,Missense_S508L exm520187 6 24578381 [T/C] NM_001168376,NM_001168375,NM_014809,NM_001252328,NM_001168374,NM_001168377 KIAA0319,KIAA0319,KIAA0319,KIAA0319,KIAA0319,KIAA0319 EXON Missense_V443I,Missense_V488I,Missense_V488I,Silent,Missense_V479I,Missense_V488I exm520189 6 24578409 [T/C] NM_001168376,NM_001168375,NM_014809,NM_001252328,NM_001168374,NM_001168377 KIAA0319,KIAA0319,KIAA0319,KIAA0319,KIAA0319,KIAA0319 EXON Missense_I433M,Missense_I478M,Missense_I478M,Silent,Missense_I469M,Missense_I478M exm520195 6 24580097 [A/G] NM_001168376,NM_001168375,NM_014809,NM_001252328,NM_001168374,NM_001168377 KIAA0319,KIAA0319,KIAA0319,KIAA0319,KIAA0319,KIAA0319 EXON Missense_I409T,Missense_I454T,Missense_I454T,Silent,Missense_I445T,Missense_I454T exm520200 6 24581216 [T/C] NM_001168376,NM_001168375,NM_014809,NM_001252328,NM_001168374,NM_001168377 KIAA0319,KIAA0319,KIAA0319,KIAA0319,KIAA0319,KIAA0319 EXON Missense_K361R,Missense_K406R,Missense_K406R,Silent,Missense_K397R,Missense_K406R exm520203 6 24581232 [T/C] NM_001168376,NM_001168375,NM_014809,NM_001252328,NM_001168374,NM_001168377 KIAA0319,KIAA0319,KIAA0319,KIAA0319,KIAA0319,KIAA0319 EXON Missense_G356R,Missense_G401R,Missense_G401R,Silent,Missense_G392R,Missense_G401R exm520214 6 24583859 [T/C] NM_001168376,NM_001168375,NM_014809,NM_001168374,NM_001168377 KIAA0319,KIAA0319,KIAA0319,KIAA0319,KIAA0319 EXON Missense_A311T,Missense_A356T,Missense_A356T,Missense_A347T,Missense_A356T exm2118148 6 24588826 [A/C] NM_001168376,NM_001168375,NM_014809,NM_001168374,NM_001168377 KIAA0319,KIAA0319,KIAA0319,KIAA0319,KIAA0319 EXON Missense_R285M,Missense_R330M,Missense_R330M,Missense_R321M,Missense_R330M exm520227 6 24588884 [T/C] NM_001168376,NM_001168375,NM_014809,NM_001168374,NM_001168377 KIAA0319,KIAA0319,KIAA0319,KIAA0319,KIAA0319 EXON Missense_A266T,Missense_A311T,Missense_A311T,Missense_A302T,Missense_A311T exm2118149 6 24588899 [T/C] NM_001168376,NM_001168375,NM_014809,NM_001168374,NM_001168377 KIAA0319,KIAA0319,KIAA0319,KIAA0319,KIAA0319 EXON Missense_T261A,Missense_T306A,Missense_T306A,Missense_T297A,Missense_T306A exm520232 6 24596112 [A/T] NM_001168376,NM_001168375,NM_014809,NM_001168374,NM_001168377 KIAA0319,KIAA0319,KIAA0319,KIAA0319,KIAA0319 EXON Missense_S219T,Missense_S264T,Missense_S264T,Missense_S255T,Missense_S264T exm520247 6 24596342 [A/G] NM_001168376,NM_001168375,NM_014809,NM_001168374,NM_001168377 KIAA0319,KIAA0319,KIAA0319,KIAA0319,KIAA0319 EXON Missense_L142P,Missense_L187P,Missense_L187P,Missense_L178P,Missense_L187P exm520249 6 24596361 [T/C] NM_001168376,NM_001168375,NM_014809,NM_001168374,NM_001168377 KIAA0319,KIAA0319,KIAA0319,KIAA0319,KIAA0319 EXON Missense_E136K,Missense_E181K,Missense_E181K,Missense_E172K,Missense_E181K exm520251 6 24596420 [T/C] NM_001168376,NM_001168375,NM_014809,NM_001168374,NM_001168377 KIAA0319,KIAA0319,KIAA0319,KIAA0319,KIAA0319 EXON Missense_R116Q,Missense_R161Q,Missense_R161Q,Missense_R152Q,Missense_R161Q exm520254 6 24596433 [A/C] NM_001168376,NM_001168375,NM_014809,NM_001168374,NM_001168377 KIAA0319,KIAA0319,KIAA0319,KIAA0319,KIAA0319 EXON Missense_S112A,Missense_S157A,Missense_S157A,Missense_S148A,Missense_S157A exm520257 6 24596478 [T/G] NM_001168376,NM_001168375,NM_014809,NM_001168374,NM_001168377 KIAA0319,KIAA0319,KIAA0319,KIAA0319,KIAA0319 EXON Missense_T97P,Missense_T142P,Missense_T142P,Missense_T133P,Missense_T142P exm520259 6 24596526 [T/G] NM_001168376,NM_001168375,NM_014809,NM_001168374,NM_001168377 KIAA0319,KIAA0319,KIAA0319,KIAA0319,KIAA0319 EXON Missense_P81T,Missense_P126T,Missense_P126T,Missense_P117T,Missense_P126T exm520261 6 24596588 [T/C] NM_001168376,NM_001168375,NM_014809,NM_001168374,NM_001168377 KIAA0319,KIAA0319,KIAA0319,KIAA0319,KIAA0319 EXON Missense_R60Q,Missense_R105Q,Missense_R105Q,Missense_R96Q,Missense_R105Q exm520267 6 24596675 [A/C] NM_001168376,NM_001168375,NM_014809,NM_001168374,NM_001168377 KIAA0319,KIAA0319,KIAA0319,KIAA0319,KIAA0319 EXON Missense_R31L,Missense_R76L,Missense_R76L,Missense_R67L,Missense_R76L exm520268 6 24596676 [A/G] NM_001168376,NM_001168375,NM_014809,NM_001168374,NM_001168377 KIAA0319,KIAA0319,KIAA0319,KIAA0319,KIAA0319 EXON Missense_R31C,Missense_R76C,Missense_R76C,Missense_R67C,Missense_R76C exm520296 6 24651032 [A/G] NM_016614 TDP2 EXON Missense_L358S exm2274124 6 24651182 [G/C] NM_016614 TDP2 EXON Missense_T308S exm520299 6 24651186 [T/C] NM_016614 TDP2 EXON Missense_I307V exm520305 6 24653215 [T/C] NM_016614 TDP2 EXON Missense_R268Q exm520308 6 24653273 [C/G] NM_016614 TDP2 EXON Missense_Q249E exm520323 6 24658948 [T/C] NM_016614 TDP2 EXON Missense_N89S exm520330 6 24666830 [T/C] NM_016614 TDP2 EXON Missense_N59D exm520336 6 24667009 [G/C] NM_016614 TDP2 EXON Missense_L28V exm520344 6 24667074 [A/C] NM_016614 TDP2 EXON Missense_C6F exm520352 6 24667501 [A/G] NM_001160094,NM_018473 ACOT13,ACOT13 EXON Silent,Missense_M4V exm520361 6 24698178 [A/G] NM_001160094,NM_018473 ACOT13,ACOT13 EXON Missense_N27S,Missense_N50S exm520362 6 24698187 [T/G] NM_001160094,NM_018473 ACOT13,ACOT13 EXON Missense_G30V,Missense_G53V exm520364 6 24698214 [T/C] NM_001160094,NM_018473 ACOT13,ACOT13 EXON Missense_T39M,Missense_T62M exm520381 6 24706469 [T/C] NM_030939 C6orf62 EXON Missense_I196V exm520382 6 24709082 [A/G] NM_030939 C6orf62 EXON Missense_R163C exm2118208 6 24716516 [T/C] NM_030939 C6orf62 EXON Missense_I56V exm-rs17419851 6 24749413 [T/C] exm520402 6 24777517 [A/C] NM_001251990,NM_015895,NM_001251989,NM_001251991 GMNN,GMNN,GMNN,GMNN EXON Missense_N15H,Missense_N15H,Missense_N15H,Missense_N15H exm520403 6 24780892 [A/C] NM_001251990,NM_015895,NM_001251989,NM_001251991 GMNN,GMNN,GMNN,GMNN EXON Missense_N18T,Missense_N18T,Missense_N18T,Missense_N18T exm520409 6 24781719 [C/G] NM_001251990,NM_015895,NM_001251989,NM_001251991 GMNN,GMNN,GMNN,GMNN EXON Missense_L48F,Missense_L48F,Missense_L48F,Missense_L48F exm520410 6 24781735 [T/C] NM_001251990,NM_015895,NM_001251989,NM_001251991 GMNN,GMNN,GMNN,GMNN EXON Missense_R54W,Missense_R54W,Missense_R54W,Missense_R54W exm520411 6 24781753 [T/C] NM_001251990,NM_015895,NM_001251989,NM_001251991 GMNN,GMNN,GMNN,GMNN EXON Missense_S60P,Missense_S60P,Missense_S60P,Missense_S60P exm520424 6 24784712 [A/G] NM_001251990,NM_015895,NM_001251989,NM_001251991 GMNN,GMNN,GMNN,GMNN EXON Missense_R133H,Missense_R133H,Missense_R133H,Missense_R133H exm2243576 6 24786005 [T/C] NM_001251990,NM_015895,NM_001251989,NM_001251991 GMNN,GMNN,GMNN,GMNN EXON Missense_T203M,Missense_T203M,Missense_T203M,Missense_T203M exm520440 6 24825482 [A/G] NM_014722 FAM65B EXON Missense_A968V exm520448 6 24828449 [T/C] NM_014722 FAM65B EXON Missense_V882I exm520450 6 24828490 [T/C] NM_014722 FAM65B EXON Missense_R868Q exm520463 6 24843097 [A/C] NM_014722,NM_015864 FAM65B,FAM65B EXON Missense_I638S,Missense_I588S exm520464 6 24843126 [T/C] NM_014722,NM_015864 FAM65B,FAM65B EXON Synonymous_L628L,Synonymous_L578L exm2257696 6 24843126 [T/C] NM_014722,NM_015864 FAM65B,FAM65B EXON Synonymous_L628L,Synonymous_L578L exm520465 6 24843131 [T/C] NM_014722,NM_015864 FAM65B,FAM65B EXON Missense_D627N,Missense_D577N exm520466 6 24843174 [T/G] NM_014722,NM_015864 FAM65B,FAM65B EXON Missense_L612F,Missense_L562F exm2257697 6 24843183 [A/G] NM_014722,NM_015864 FAM65B,FAM65B EXON Synonymous_N609N,Synonymous_N559N exm520468 6 24843190 [A/G] NM_014722,NM_015864 FAM65B,FAM65B EXON Missense_A607V,Missense_A557V exm520474 6 24843334 [A/G] NM_014722,NM_015864 FAM65B,FAM65B EXON Missense_S559L,Missense_S509L exm520478 6 24843452 [A/G] NM_014722,NM_015864 FAM65B,FAM65B EXON Missense_R520C,Missense_R470C exm520479 6 24843466 [T/G] NM_014722,NM_015864 FAM65B,FAM65B EXON Missense_P515Q,Missense_P465Q exm520481 6 24843491 [T/C] NM_014722,NM_015864 FAM65B,FAM65B EXON Missense_E507K,Missense_E457K exm520486 6 24843527 [T/C] NM_014722,NM_015864 FAM65B,FAM65B EXON Missense_E495K,Missense_E445K exm520487 6 24843550 [T/C] NM_014722,NM_015864 FAM65B,FAM65B EXON Missense_R487K,Missense_R437K exm520490 6 24843655 [G/C] NM_014722,NM_015864 FAM65B,FAM65B EXON Missense_S452C,Missense_S402C exm520493 6 24843740 [T/C] NM_014722,NM_015864 FAM65B,FAM65B EXON Missense_E424K,Missense_E374K exm520498 6 24847851 [G/C] NM_014722,NM_015864 FAM65B,FAM65B EXON Missense_F382L,Silent exm520499 6 24847885 [T/C] NM_014722,NM_015864 FAM65B,FAM65B EXON Missense_R371Q,Silent exm520502 6 24848287 [A/G] NM_014722,NM_015864 FAM65B,FAM65B EXON Missense_P348L,Missense_P348L exm520506 6 24848345 [A/C] NM_014722,NM_015864 FAM65B,FAM65B EXON Missense_A329S,Missense_A329S exm520507 6 24848372 [T/C] NM_014722,NM_015864 FAM65B,FAM65B EXON Missense_V320M,Missense_V320M exm520509 6 24850072 [T/C] NM_014722,NM_015864 FAM65B,FAM65B EXON Missense_N302S,Missense_N302S exm520512 6 24850169 [A/G] NM_014722,NM_015864 FAM65B,FAM65B EXON Missense_L270F,Missense_L270F exm520525 6 24865659 [C/G] NM_014722,NM_015864 FAM65B,FAM65B EXON Missense_A145G,Missense_A145G exm-IND6-25205390 6 25097412 [I/D] NR_002174 CMAHP EXON exm2266297 6 25127176 [A/G] NR_002174,NR_027626 CMAHP,CMAHP Silent,Silent exm2266170 6 25170501 [A/G] exm520574 6 25426768 [A/G] NM_017640,NM_001173977 LRRC16A,LRRC16A EXON Missense_V77I,Missense_V77I exm520578 6 25435805 [C/G] NM_017640,NM_001173977 LRRC16A,LRRC16A EXON Missense_R115T,Missense_R115T exm520579 6 25435822 [T/C] NM_017640,NM_001173977 LRRC16A,LRRC16A EXON Missense_L121F,Missense_L121F exm520608 6 25471485 [T/C] NM_017640,NM_001173977 LRRC16A,LRRC16A EXON Missense_T260I,Missense_T260I exm-rs2274089 6 25488583 [T/C] NM_017640,NM_001173977 LRRC16A,LRRC16A Silent,Silent exm520616 6 25488754 [A/G] NM_017640,NM_001173977 LRRC16A,LRRC16A EXON Missense_A336T,Missense_A336T exm520635 6 25515904 [T/C] NM_017640,NM_001173977 LRRC16A,LRRC16A EXON Missense_P545L,Missense_P545L exm2243580 6 25538131 [T/C] NM_017640,NM_001173977 LRRC16A,LRRC16A EXON Nonsense_R706X,Nonsense_R706X exm520641 6 25538140 [C/G] NM_017640,NM_001173977 LRRC16A,LRRC16A EXON Missense_G709R,Missense_G709R exm520643 6 25538167 [A/C] NM_017640,NM_001173977 LRRC16A,LRRC16A EXON Missense_K718Q,Missense_K718Q exm520644 6 25538188 [A/C] NM_017640,NM_001173977 LRRC16A,LRRC16A EXON Missense_R725S,Missense_R725S exm520657 6 25551253 [T/G] NM_017640,NM_001173977 LRRC16A,LRRC16A EXON Missense_R815L,Missense_R815L exm520658 6 25554271 [A/G] NM_017640,NM_001173977 LRRC16A,LRRC16A EXON Missense_D847N,Missense_D847N exm520663 6 25556962 [T/C] NM_017640,NM_001173977 LRRC16A,LRRC16A EXON Missense_P876S,Missense_P876S exm520664 6 25556995 [A/G] NM_017640,NM_001173977 LRRC16A,LRRC16A EXON Missense_E887K,Missense_E887K exm520671 6 25581495 [T/C] NM_017640,NM_001173977 LRRC16A,LRRC16A EXON Missense_A945V,Missense_A945V exm2257699 6 25589165 [A/G] NM_017640,NM_001173977 LRRC16A,LRRC16A Silent,Silent exm520677 6 25594653 [T/C] NM_017640,NM_001173977 LRRC16A,LRRC16A EXON Missense_A1006V,Missense_A1006V exm520686 6 25600735 [A/G] NM_017640,NM_001173977 LRRC16A,LRRC16A EXON Missense_D1105N,Missense_D1105N exm520689 6 25600772 [A/G] NM_017640,NM_001173977 LRRC16A,LRRC16A EXON Missense_N1117S,Missense_N1117S exm520698 6 25605058 [A/G] NM_017640,NM_001173977 LRRC16A,LRRC16A EXON Missense_V1191I,Missense_V1191I exm520699 6 25605091 [A/G] NM_017640,NM_001173977 LRRC16A,LRRC16A EXON Missense_G1202S,Missense_G1202S exm2118291 6 25605094 [A/G] NM_017640,NM_001173977 LRRC16A,LRRC16A EXON Missense_V1203I,Missense_V1203I exm520702 6 25606312 [C/G] NM_017640,NM_001173977 LRRC16A,LRRC16A EXON Missense_P1220A,Missense_P1214A exm520708 6 25606409 [T/C] NM_017640,NM_001173977 LRRC16A,LRRC16A EXON Missense_P1252L,Missense_P1246L exm520711 6 25606442 [A/G] NM_017640,NM_001173977 LRRC16A,LRRC16A EXON Missense_K1263R,Missense_K1257R exm-rs742132 6 25607571 [A/G] NM_017640,NM_001173977 LRRC16A,LRRC16A Silent,Silent exm520722 6 25619804 [T/C] NM_017640,NM_001173977 LRRC16A,LRRC16A EXON Missense_F1370S,Missense_F1364S exm-rs932316 6 25641200 [T/C] exm-IND6-25761587 6 25653609 [D/I] NM_006998 SCGN exm520729 6 25653615 [T/G] NM_006998 SCGN EXON Missense_G30C exm520732 6 25653628 [A/T] NM_006998 SCGN EXON Missense_E34V exm520738 6 25653678 [T/G] NM_006998 SCGN EXON Missense_D51Y exm520746 6 25661861 [T/C] NM_006998 SCGN EXON Missense_R79W exm520750 6 25665219 [T/C] NM_006998 SCGN EXON Missense_R99C exm520759 6 25669794 [A/G] NM_006998 SCGN EXON Missense_R131H exm520761 6 25670242 [G/C] NM_006998 SCGN EXON Missense_L137V exm520765 6 25670282 [A/T] NM_006998 SCGN EXON Missense_L150Q exm520768 6 25682209 [T/C] NM_006998 SCGN EXON Missense_R168W exm520780 6 25691297 [T/C] NM_006998 SCGN EXON Missense_A216V exm520781 6 25691352 [A/G] NM_006998 SCGN EXON Synonymous_Q234Q exm520784 6 25701484 [A/G] NM_006998 SCGN EXON Missense_R251H exm520786 6 25701495 [T/G] NM_006998 SCGN EXON Missense_V255L exm520806 6 25726494 [T/C] NM_170745 HIST1H2AA EXON Missense_I88V exm520819 6 25726686 [A/C] NM_170745 HIST1H2AA EXON Missense_L24V exm2257700 6 25726705 [A/G] NM_170745 HIST1H2AA EXON Synonymous_S17S exm520829 6 25726725 [T/C] NM_170745 HIST1H2AA EXON Missense_A11T exm520840 6 25727158 [A/G] NM_170610 HIST1H2BA EXON Missense_G8S exm520850 6 25727204 [T/C] NM_170610 HIST1H2BA EXON Missense_T23I exm520852 6 25727213 [A/G] NM_170610 HIST1H2BA EXON Missense_K26R exm520858 6 25727255 [G/C] NM_170610 HIST1H2BA EXON Missense_S40C exm520875 6 25727383 [T/G] NM_170610 HIST1H2BA EXON Missense_A83S exm2118347 6 25727384 [A/C] NM_170610 HIST1H2BA EXON Missense_A83D exm520888 6 25762227 [T/G] NM_005495 SLC17A4 EXON Missense_D13Y exm520889 6 25762229 [A/C] NM_005495 SLC17A4 EXON Missense_D13E exm520900 6 25769359 [T/C] NM_005495 SLC17A4 EXON Missense_R80W exm520901 6 25769360 [A/G] NM_005495 SLC17A4 EXON Missense_R80Q exm520912 6 25770505 [T/C] NM_005495 SLC17A4 EXON Missense_R170W exm520919 6 25770660 [T/C] NM_005495 SLC17A4 EXON Missense_P194S exm520920 6 25770661 [T/C] NM_005495 SLC17A4 EXON Missense_P194L exm2118362 6 25773595 [T/C] NM_005495 SLC17A4 EXON Missense_Y267H exm2274125 6 25773605 [A/G] NM_005495 SLC17A4 EXON Missense_C270Y exm520927 6 25773744 [T/G] NM_005495 SLC17A4 EXON Missense_C277G exm520937 6 25773877 [T/C] NM_005495 SLC17A4 EXON Missense_S321L exm520940 6 25773902 [T/C] NM_005495 SLC17A4 EXON Synonymous_D329D exm520945 6 25776875 [T/G] NM_005495 SLC17A4 EXON Missense_L347R exm520947 6 25776895 [T/A] NM_005495 SLC17A4 EXON Missense_F354I exm520949 6 25776949 [A/G] NM_005495 SLC17A4 EXON Missense_A372T exm520964 6 25778182 [T/C] NM_005495 SLC17A4 EXON Nonsense_Q433X exm520968 6 25779337 [T/C] NM_005495 SLC17A4 EXON Missense_S472L exm520970 6 25779375 [A/G] NM_005495 SLC17A4 EXON Missense_V485M exm520975 6 25799043 [T/C] NM_005074 SLC17A1 EXON Nonsense_W458X exm2118388 6 25811630 [T/G] NM_005074 SLC17A1 EXON Missense_P392T exm520984 6 25811886 [T/C] NM_005074 SLC17A1 EXON Missense_R337Q exm520985 6 25811887 [A/G] NM_005074 SLC17A1 EXON Missense_R337W exm520988 6 25811932 [A/G] NM_005074 SLC17A1 EXON Missense_S322P exm2118392 6 25813093 [A/C] NM_005074 SLC17A1 EXON Missense_F288C exm520993 6 25813150 [A/G] NM_005074 SLC17A1 EXON Missense_T269I exm521005 6 25819762 [T/C] NM_005074 SLC17A1 EXON Missense_R169Q exm521007 6 25819768 [T/C] NM_005074 SLC17A1 EXON Missense_R167Q exm521010 6 25819777 [A/G] NM_005074 SLC17A1 EXON Missense_P164L exm2243585 6 25819933 [G/C] NM_005074 SLC17A1 EXON Missense_R140G exm521019 6 25820124 [T/C] NM_005074 SLC17A1 EXON Missense_S76N exm521020 6 25820126 [A/C] NM_005074 SLC17A1 EXON Missense_W75C exm-rs17270561 6 25820439 [A/C] NM_005074 SLC17A1 Silent exm-rs17342717 6 25821770 [T/C] NM_005074 SLC17A1 Silent exm-rs1183201 6 25823444 [A/T] NM_005074 SLC17A1 Silent exm521023 6 25826764 [A/C] NM_005074 SLC17A1 EXON Missense_M44I exm521025 6 25826783 [A/G] NM_005074 SLC17A1 EXON Missense_A38V exm521031 6 25830769 [T/C] NM_005074 SLC17A1 EXON Missense_R6Q exm-rs1408272 6 25842951 [T/G] exm521042 6 25845618 [A/G] NM_006632,NM_001098486 SLC17A3,SLC17A3 EXON Missense_R419C,Missense_R497C exm521058 6 25850091 [T/C] NM_006632,NM_001098486 SLC17A3,SLC17A3 EXON Missense_G327R,Missense_G405R exm2118413 6 25850094 [T/A] NM_006632,NM_001098486 SLC17A3,SLC17A3 EXON Missense_C326S,Missense_C404S exm521070 6 25850845 [T/C] NM_006632,NM_001098486 SLC17A3,SLC17A3 EXON Missense_G201R,Missense_G279R exm521076 6 25851102 [A/C] NM_006632,NM_001098486 SLC17A3,SLC17A3 EXON Missense_G161V,Missense_G239V exm521078 6 25855404 [A/G] NM_006632,NM_001098486 SLC17A3,SLC17A3 EXON Missense_T149I,Missense_T227I exm521089 6 25862139 [T/C] NM_006632,NM_001098486 SLC17A3,SLC17A3 EXON Silent,Missense_R141Q exm521093 6 25862466 [T/C] NM_006632,NM_001098486 SLC17A3,SLC17A3 EXON Missense_A100T,Missense_A100T exm521099 6 25862634 [T/C] NM_006632,NM_001098486 SLC17A3,SLC17A3 EXON Missense_V44I,Missense_V44I exm521102 6 25862652 [A/G] NM_006632,NM_001098486 SLC17A3,SLC17A3 EXON Missense_R38C,Missense_R38C exm521106 6 25868567 [T/C] NM_006632,NM_001098486 SLC17A3,SLC17A3 EXON Missense_A17T,Missense_A17T exm-rs1165205 6 25870542 [A/T] NM_006632,NM_001098486 SLC17A3,SLC17A3 Silent,Silent exm2118432 6 25913644 [T/C] NM_005835 SLC17A2 EXON Missense_C397Y exm521119 6 25914853 [A/G] NM_005835 SLC17A2 EXON Missense_S370L exm2257701 6 25916087 [A/G] NM_005835 SLC17A2 EXON Synonymous_L314L exm521134 6 25917001 [A/C] NM_005835 SLC17A2 EXON Missense_G281V exm521135 6 25917035 [C/G] NM_005835 SLC17A2 EXON Missense_V270L exm521136 6 25917225 [T/C] NM_005835 SLC17A2 EXON Missense_E247G exm521138 6 25918714 [T/C] NM_005835 SLC17A2 Silent exm521160 6 25924134 [T/C] NM_005835 SLC17A2 EXON Missense_G10D exm521170 6 25966811 [A/G] NM_006355 TRIM38 EXON Missense_S21G exm521176 6 25966909 [T/G] NM_006355 TRIM38 EXON Missense_R53S exm521182 6 25967019 [A/G] NM_006355 TRIM38 EXON Missense_E90G exm521186 6 25967127 [T/C] NM_006355 TRIM38 EXON Missense_T126I exm521188 6 25967144 [A/G] NM_006355 TRIM38 EXON Missense_V132I exm521192 6 25969631 [T/C] NM_006355 TRIM38 EXON Nonsense_R164X exm521193 6 25969635 [T/C] NM_006355 TRIM38 EXON Missense_I165T exm521196 6 25972179 [A/G] NM_006355 TRIM38 EXON Missense_Y197C exm521236 6 25983905 [A/C] NM_006355 TRIM38 EXON Missense_P463Q exm-rs12216125 6 25997458 [T/C] exm2118468 6 26017510 [T/C] NM_005325 HIST1H1A EXON Missense_K151E exm521253 6 26017542 [T/C] NM_005325 HIST1H1A EXON Missense_K140R exm521256 6 26017617 [A/G] NM_005325 HIST1H1A EXON Missense_S115F exm521259 6 26017654 [C/G] NM_005325 HIST1H1A EXON Missense_G103R exm521261 6 26017665 [A/G] NM_005325 HIST1H1A EXON Missense_T99I exm2118473 6 26017760 [A/C] NM_005325 HIST1H1A EXON Missense_K67N exm521282 6 26017768 [A/G] NM_005325 HIST1H1A EXON Missense_L65F exm521289 6 26017803 [A/G] NM_005325 HIST1H1A EXON Missense_S53F exm521293 6 26017836 [A/G] NM_005325 HIST1H1A EXON Missense_S42F exm521294 6 26017850 [T/A] NM_005325 HIST1H1A EXON Missense_K37N exm2243589 6 26017866 [A/G] NM_005325 HIST1H1A EXON Missense_A32V exm521305 6 26017926 [A/G] NM_005325 HIST1H1A EXON Missense_S12F exm521338 6 26020883 [T/C] NM_003529 HIST1H3A EXON Nonsense_Q56X exm521346 6 26020917 [T/C] NM_003529 HIST1H3A EXON Missense_P67L exm521347 6 26020920 [T/C] NM_003529 HIST1H3A EXON Missense_F68S exm521348 6 26020922 [T/C] NM_003529 HIST1H3A EXON Nonsense_Q69X exm521352 6 26020976 [A/G] NM_003529 HIST1H3A EXON Missense_S87G exm2118501 6 26021094 [A/C] NM_003529 HIST1H3A EXON Missense_Q126P exm521372 6 26021913 [T/G] NM_003538 HIST1H4A EXON Nonsense_G3X exm521382 6 26022142 [G/C] NM_003538 HIST1H4A EXON Missense_R79P exm521384 6 26022151 [T/C] NM_003538 HIST1H4A EXON Missense_V82A exm521407 6 26027306 [A/G] NM_003544 HIST1H4B EXON Missense_L59F exm521419 6 26027380 [A/G] NM_003544 HIST1H4B EXON Missense_A34V exm2118520 6 26027478 [T/C] NM_003544 HIST1H4B EXON Missense_M1I exm521501 6 26033720 [T/A] NM_003513 HIST1H2AB EXON Missense_F26Y exm2118572 6 26043833 [A/G] NM_021062 HIST1H2BB EXON Missense_A18V exm2118573 6 26043876 [A/G] NM_021062 HIST1H2BB EXON Missense_P4S exm521569 6 26056053 [T/C] NM_005319 HIST1H1C EXON Missense_V202I exm2118595 6 26056085 [T/G] NM_005319 HIST1H1C EXON Missense_K191T exm2118597 6 26056091 [A/G] NM_005319 HIST1H1C EXON Missense_A189V exm521577 6 26056118 [A/G] NM_005319 HIST1H1C EXON Missense_A180V exm521580 6 26056129 [A/C] NM_005319 HIST1H1C EXON Missense_K176N exm521587 6 26056145 [A/G] NM_005319 HIST1H1C EXON Missense_A171V exm521588 6 26056146 [C/G] NM_005319 HIST1H1C EXON Missense_A171P exm521597 6 26056198 [T/G] NM_005319 HIST1H1C EXON Missense_K153N exm521605 6 26056220 [A/G] NM_005319 HIST1H1C EXON Missense_T146I exm521616 6 26056289 [A/G] NM_005319 HIST1H1C EXON Missense_A123V exm521617 6 26056290 [T/C] NM_005319 HIST1H1C EXON Missense_A123T exm521618 6 26056293 [T/G] NM_005319 HIST1H1C EXON Missense_K122Q exm2118609 6 26056310 [C/G] NM_005319 HIST1H1C EXON Missense_A116G exm521624 6 26056320 [A/C] NM_005319 HIST1H1C EXON Missense_S113A exm2257703 6 26056321 [A/G] NM_005319 HIST1H1C EXON Synonymous_A112A exm2257704 6 26056552 [T/C] NM_005319 HIST1H1C EXON Synonymous_A35A exm521668 6 26056586 [A/G] NM_005319 HIST1H1C EXON Missense_A24V exm521669 6 26056587 [T/C] NM_005319 HIST1H1C EXON Missense_A24T exm521676 6 26056604 [A/G] NM_005319 HIST1H1C EXON Missense_A18V exm521681 6 26056616 [A/G] NM_005319 HIST1H1C EXON Missense_P14L exm2118626 6 26056699 [A/G] NM_005319 HIST1H1C EXON Silent exm521695 6 26087686 [C/G] NM_139010,NM_000410,NM_139011,NM_139008,NM_139007,NM_139004,NM_139003,NM_139006,NM_139009 HFE,HFE,HFE,HFE,HFE,HFE,HFE,HFE,HFE EXON Missense_R6S,Missense_R6S,Missense_R6S,Missense_R6S,Missense_R6S,Missense_R6S,Missense_R6S,Missense_R6S,Missense_R6S exm521696 6 26087718 [T/C] NM_139010,NM_000410,NM_139011,NM_139008,NM_139007,NM_139004,NM_139003,NM_139006,NM_139009 HFE,HFE,HFE,HFE,HFE,HFE,HFE,HFE,HFE EXON Missense_T17I,Missense_T17I,Missense_T17I,Missense_T17I,Missense_T17I,Missense_T17I,Missense_T17I,Missense_T17I,Missense_T17I exm521698 6 26087736 [A/G] NM_139010,NM_000410,NM_139011,NM_139008,NM_139007,NM_139004,NM_139003,NM_139006,NM_139009 HFE,HFE,HFE,HFE,HFE,HFE,HFE,HFE,HFE EXON Missense_R23H,Missense_R23H,Missense_R23H,Missense_R23H,Missense_R23H,Missense_R23H,Missense_R23H,Missense_R23H,Missense_R23H exm521702 6 26091179 [C/G] NM_139010,NM_000410,NM_139011,NM_139008,NM_139007,NM_139004,NM_139003,NM_139006,NM_139009 HFE,HFE,HFE,HFE,HFE,HFE,HFE,HFE,HFE EXON Silent,Missense_H63D,Silent,Silent,Silent,Missense_H63D,Missense_H63D,Missense_H63D,Missense_H40D exm521704 6 26091185 [A/T] NM_139010,NM_000410,NM_139011,NM_139008,NM_139007,NM_139004,NM_139003,NM_139006,NM_139009 HFE,HFE,HFE,HFE,HFE,HFE,HFE,HFE,HFE EXON Silent,Missense_S65C,Silent,Silent,Silent,Missense_S65C,Missense_S65C,Missense_S65C,Missense_S42C exm521714 6 26091685 [T/G] NM_139010,NM_000410,NM_139011,NM_139008,NM_139007,NM_139004,NM_139003,NM_139006,NM_139009 HFE,HFE,HFE,HFE,HFE,HFE,HFE,HFE,HFE EXON Silent,Missense_A162S,Silent,Missense_A74S,Missense_A74S,Silent,Silent,Missense_A162S,Missense_A139S exm521719 6 26091703 [G/C] NM_139010,NM_000410,NM_139011,NM_139008,NM_139007,NM_139004,NM_139003,NM_139006,NM_139009 HFE,HFE,HFE,HFE,HFE,HFE,HFE,HFE,HFE EXON Silent,Missense_E168Q,Silent,Missense_E80Q,Missense_E80Q,Silent,Silent,Missense_E168Q,Missense_E145Q exm521721 6 26092966 [T/C] NM_139010,NM_000410,NM_139011,NM_139008,NM_139007,NM_139004,NM_139003,NM_139006,NM_139009 HFE,HFE,HFE,HFE,HFE,HFE,HFE,HFE,HFE EXON Missense_R44W,Missense_R224W,Silent,Missense_R122W,Missense_R136W,Missense_R132W,Missense_R118W,Missense_R210W,Missense_R201W exm521722 6 26092967 [A/G] NM_139010,NM_000410,NM_139011,NM_139008,NM_139007,NM_139004,NM_139003,NM_139006,NM_139009 HFE,HFE,HFE,HFE,HFE,HFE,HFE,HFE,HFE EXON Missense_R44Q,Missense_R224Q,Silent,Missense_R122Q,Missense_R136Q,Missense_R132Q,Missense_R118Q,Missense_R210Q,Missense_R201Q exm521726 6 26093062 [A/G] NM_139010,NM_000410,NM_139011,NM_139008,NM_139007,NM_139004,NM_139003,NM_139006,NM_139009 HFE,HFE,HFE,HFE,HFE,HFE,HFE,HFE,HFE EXON Missense_V76I,Missense_V256I,Silent,Missense_V154I,Missense_V168I,Missense_V164I,Missense_V150I,Missense_V242I,Missense_V233I exm521728 6 26093125 [A/G] NM_139010,NM_000410,NM_139011,NM_139008,NM_139007,NM_139004,NM_139003,NM_139006,NM_139009 HFE,HFE,HFE,HFE,HFE,HFE,HFE,HFE,HFE EXON Missense_E97K,Missense_E277K,Silent,Missense_E175K,Missense_E189K,Missense_E185K,Missense_E171K,Missense_E263K,Missense_E254K exm521729 6 26093141 [A/G] NM_139010,NM_000410,NM_139011,NM_139008,NM_139007,NM_139004,NM_139003,NM_139006,NM_139009 HFE,HFE,HFE,HFE,HFE,HFE,HFE,HFE,HFE EXON Missense_C102Y,Missense_C282Y,Silent,Missense_C180Y,Missense_C194Y,Missense_C190Y,Missense_C176Y,Missense_C268Y,Missense_C259Y exm521730 6 26093180 [T/C] NM_139010,NM_000410,NM_139011,NM_139008,NM_139007,NM_139004,NM_139003,NM_139006,NM_139009 HFE,HFE,HFE,HFE,HFE,HFE,HFE,HFE,HFE EXON Missense_V115A,Missense_V295A,Silent,Missense_V193A,Missense_V207A,Missense_V203A,Missense_V189A,Missense_V281A,Missense_V272A exm521757 6 26104257 [T/C] NM_003542 HIST1H4C EXON Nonsense_Q28X exm521771 6 26104443 [T/G] NM_003542 HIST1H4C EXON Missense_A90S exm-rs198846 6 26107463 [A/G] exm521780 6 26107774 [A/G] NM_005323 HIST1H1T EXON Missense_V183A exm521783 6 26107783 [T/C] NM_005323 HIST1H1T EXON Missense_K180R exm521785 6 26107790 [T/G] NM_005323 HIST1H1T EXON Missense_Q178K exm521787 6 26107816 [T/C] NM_005323 HIST1H1T EXON Missense_K169R exm521788 6 26107820 [A/T] NM_005323 HIST1H1T EXON Nonsense_R168X exm521796 6 26107856 [A/G] NM_005323 HIST1H1T EXON Missense_P156S exm521797 6 26107858 [T/G] NM_005323 HIST1H1T EXON Missense_K155T exm521802 6 26107873 [T/C] NM_005323 HIST1H1T EXON Missense_N150S exm521803 6 26107877 [T/C] NM_005323 HIST1H1T EXON Missense_T149A exm521805 6 26107896 [G/C] NM_005323 HIST1H1T EXON Missense_K142N exm521808 6 26107964 [T/C] NM_005323 HIST1H1T EXON Missense_T120A exm521829 6 26108116 [A/G] NM_005323 HIST1H1T EXON Missense_A69V exm521830 6 26108117 [T/C] NM_005323 HIST1H1T EXON Missense_A69T exm521835 6 26108168 [A/G] NM_005323 HIST1H1T EXON Missense_L52F exm521837 6 26108173 [T/C] NM_005323 HIST1H1T EXON Missense_E50G exm521839 6 26108180 [T/C] NM_005323 HIST1H1T EXON Missense_I48V exm521843 6 26108194 [C/G] NM_005323 HIST1H1T EXON Missense_S43C exm521846 6 26108203 [A/G] NM_005323 HIST1H1T EXON Missense_P40L exm521848 6 26108245 [T/C] NM_005323 HIST1H1T EXON Missense_G26E exm521856 6 26108282 [C/G] NM_005323 HIST1H1T EXON Missense_V14L exm2118678 6 26108363 [T/G] NM_005323 HIST1H1T EXON Silent exm-rs12206204 6 26116982 [T/C] exm2257705 6 26122933 [T/G] exm521950 6 26156752 [T/C] NM_005321 HIST1H1E EXON Missense_T45I exm521951 6 26156758 [T/C] NM_005321 HIST1H1E EXON Missense_A47V exm2257706 6 26156918 [T/C] NM_005321 HIST1H1E EXON Synonymous_G100G exm521983 6 26156953 [T/C] NM_005321 HIST1H1E EXON Missense_A112V exm522005 6 26157073 [A/G] NM_005321 HIST1H1E EXON Missense_K152R exm522010 6 26157100 [T/C] NM_005321 HIST1H1E EXON Missense_P161L exm522026 6 26157228 [A/G] NM_005321 HIST1H1E EXON Missense_A204T exm522041 6 26158456 [T/C] NM_138720,NM_021063 HIST1H2BD,HIST1H2BD EXON Missense_T20I,Missense_T20I exm522068 6 26184034 [T/C] NM_003523 HIST1H2BE EXON Missense_P4L exm2118771 6 26189303 [T/A] NM_003539 HIST1H4D EXON Missense_M1K exm522176 6 26199399 [A/G] NM_003530,NM_021065 HIST1H3D,HIST1H2AD EXON Silent,Nonsense_Q25X exm-rs806794 6 26200677 [A/G] exm2276914 6 26205139 [A/C] NM_003545 HIST1H4E EXON Nonsense_Y89X exm522268 6 26216807 [A/G] NM_003518 HIST1H2BG EXON Missense_A22V exm522273 6 26216843 [A/G] NM_003518 HIST1H2BG EXON Missense_A10V exm522275 6 26216847 [A/G] NM_003518 HIST1H2BG EXON Missense_P9S exm2118836 6 26216869 [A/C] NM_003518 HIST1H2BG EXON Missense_M1I exm2257708 6 26217289 [C/G] NM_021052 HIST1H2AE EXON Synonymous_G29G exm2118855 6 26225383 [A/G] NM_003532 HIST1H3E EXON Missense_M1V exm522341 6 26225743 [A/G] NM_003532 HIST1H3E EXON Missense_M121V exm-rs10946808 6 26233387 [A/G] exm522351 6 26234521 [T/C] NM_005320 HIST1H1D EXON Missense_K214R exm2118873 6 26234554 [A/G] NM_005320 HIST1H1D EXON Missense_P203L exm522366 6 26234665 [A/G] NM_005320 HIST1H1D EXON Missense_A166V exm522367 6 26234668 [C/G] NM_005320 HIST1H1D EXON Missense_A165G exm522373 6 26234726 [C/G] NM_005320 HIST1H1D EXON Missense_A146P exm522384 6 26234797 [T/C] NM_005320 HIST1H1D EXON Missense_K122R exm522409 6 26234929 [T/G] NM_005320 HIST1H1D EXON Missense_N78T exm522417 6 26234959 [A/G] NM_005320 HIST1H1D EXON Missense_A68V exm522428 6 26235035 [T/C] NM_005320 HIST1H1D EXON Missense_E43K exm522429 6 26235041 [T/C] NM_005320 HIST1H1D EXON Missense_V41I exm522433 6 26235068 [T/C] NM_005320 HIST1H1D EXON Missense_G32R exm522441 6 26235130 [A/G] NM_005320 HIST1H1D EXON Missense_I11T exm522445 6 26235151 [G/C] NM_005320 HIST1H1D EXON Missense_T4S exm522459 6 26240711 [T/C] NM_003540 HIST1H4F EXON Missense_R20C exm522492 6 26247198 [A/G] NM_003547 HIST1H4G EXON Missense_V3A exm2118951 6 26252116 [A/C] NM_003524 HIST1H2BH EXON Missense_R80S exm522561 6 26271399 [T/C] NM_003534 HIST1H3G EXON Missense_V72M exm522566 6 26271462 [A/C] NM_003534 HIST1H3G EXON Nonsense_E51X exm522576 6 26273213 [A/C] NM_003525 HIST1H2BI EXON Missense_P4T exm522578 6 26273234 [G/C] NM_003525 HIST1H2BI EXON Missense_P11A exm2262107 6 26316982 [A/G] exm2264221 6 26370616 [C/G] NM_007047,NM_001197247,NM_001197249,NM_001197248,NM_001197246 BTN3A2,BTN3A2,BTN3A2,BTN3A2,BTN3A2 EXON Missense_R167T,Missense_R167T,Missense_R125T,Missense_R144T,Missense_R167T exm522653 6 26370748 [A/G] NM_007047,NM_001197247,NM_001197249,NM_001197248,NM_001197246 BTN3A2,BTN3A2,BTN3A2,BTN3A2,BTN3A2 EXON Missense_R211K,Missense_R211K,Missense_R169K,Missense_R188K,Missense_R211K exm522661 6 26373128 [T/C] NM_007047,NM_001197247,NM_001197249,NM_001197248,NM_001197246 BTN3A2,BTN3A2,BTN3A2,BTN3A2,BTN3A2 EXON Missense_P240L,Missense_P240L,Missense_P198L,Missense_P217L,Missense_P240L exm522678 6 26373507 [A/G] NM_007047,NM_001197247,NM_001197249,NM_001197248,NM_001197246 BTN3A2,BTN3A2,BTN3A2,BTN3A2,BTN3A2 EXON Missense_S307N,Missense_S307N,Missense_S265N,Missense_S284N,Missense_S307N exm522693 6 26384060 [T/C] NM_001197238,NM_181531,NM_001197240,NM_001197239,NM_006995,NM_001197237 BTN2A2,BTN2A2,BTN2A2,BTN2A2,BTN2A2,BTN2A2 EXON Missense_A4V,Missense_A4V,Missense_A4V,Missense_A4V,Missense_A4V,Missense_A4V exm522701 6 26385257 [A/G] NM_001197238,NM_181531,NM_001197240,NM_001197239,NM_006995,NM_001197237 BTN2A2,BTN2A2,BTN2A2,BTN2A2,BTN2A2,BTN2A2 EXON Missense_V37M,Silent,Missense_V37M,Silent,Missense_V37M,Missense_V37M exm522702 6 26385263 [G/C] NM_001197238,NM_181531,NM_001197240,NM_001197239,NM_006995,NM_001197237 BTN2A2,BTN2A2,BTN2A2,BTN2A2,BTN2A2,BTN2A2 EXON Missense_P39A,Silent,Missense_P39A,Silent,Missense_P39A,Missense_P39A exm522709 6 26385438 [A/G] NM_001197238,NM_181531,NM_001197240,NM_001197239,NM_006995,NM_001197237 BTN2A2,BTN2A2,BTN2A2,BTN2A2,BTN2A2,BTN2A2 EXON Missense_R97Q,Silent,Missense_R97Q,Silent,Missense_R97Q,Missense_R97Q exm522711 6 26385474 [A/G] NM_001197238,NM_181531,NM_001197240,NM_001197239,NM_006995,NM_001197237 BTN2A2,BTN2A2,BTN2A2,BTN2A2,BTN2A2,BTN2A2 EXON Missense_R109K,Silent,Missense_R109K,Silent,Missense_R109K,Missense_R109K exm522722 6 26388372 [T/G] NM_001197238,NM_181531,NM_001197240,NM_001197239,NM_006995,NM_001197237 BTN2A2,BTN2A2,BTN2A2,BTN2A2,BTN2A2,BTN2A2 EXON Missense_A192S,Missense_A76S,Silent,Silent,Missense_A192S,Missense_A192S exm522734 6 26390307 [T/G] NM_001197238,NM_181531,NM_001197240,NM_001197239,NM_006995,NM_001197237 BTN2A2,BTN2A2,BTN2A2,BTN2A2,BTN2A2,BTN2A2 EXON Missense_S267A,Missense_S151A,Missense_S173A,Missense_S57A,Missense_S267A,Missense_S267A exm522736 6 26390316 [G/C] NM_001197238,NM_181531,NM_001197240,NM_001197239,NM_006995,NM_001197237 BTN2A2,BTN2A2,BTN2A2,BTN2A2,BTN2A2,BTN2A2 EXON Missense_V270L,Missense_V154L,Missense_V176L,Missense_V60L,Missense_V270L,Missense_V270L exm522738 6 26390439 [C/G] NM_001197238,NM_181531,NM_001197240,NM_001197239,NM_006995,NM_001197237 BTN2A2,BTN2A2,BTN2A2,BTN2A2,BTN2A2,BTN2A2 EXON Missense_Q311E,Missense_Q195E,Missense_Q217E,Missense_Q101E,Missense_Q311E,Missense_Q311E exm2243613 6 26392488 [T/C] NM_001197238,NM_181531,NM_001197240,NM_001197239,NM_006995,NM_001197237 BTN2A2,BTN2A2,BTN2A2,BTN2A2,BTN2A2,BTN2A2 EXON Silent,Silent,Missense_R246W,Silent,Silent,Silent exm522750 6 26392515 [C/G] NM_001197238,NM_181531,NM_001197240,NM_001197239,NM_006995,NM_001197237 BTN2A2,BTN2A2,BTN2A2,BTN2A2,BTN2A2,BTN2A2 EXON Silent,Silent,Missense_A255P,Silent,Silent,Silent exm522755 6 26392629 [A/G] NM_001197238,NM_181531,NM_001197240,NM_001197239,NM_006995,NM_001197237 BTN2A2,BTN2A2,BTN2A2,BTN2A2,BTN2A2,BTN2A2 EXON Silent,Missense_A220T,Silent,Missense_A126T,Missense_A336T,Missense_A336T exm522756 6 26392634 [A/T] NM_001197238,NM_181531,NM_001197240,NM_001197239,NM_006995,NM_001197237 BTN2A2,BTN2A2,BTN2A2,BTN2A2,BTN2A2,BTN2A2 EXON Silent,Missense_H221Q,Silent,Missense_H127Q,Missense_H337Q,Missense_H337Q exm522758 6 26392638 [A/G] NM_001197238,NM_181531,NM_001197240,NM_001197239,NM_006995,NM_001197237 BTN2A2,BTN2A2,BTN2A2,BTN2A2,BTN2A2,BTN2A2 EXON Silent,Missense_E223K,Silent,Missense_E129K,Missense_E339K,Missense_E339K exm2119022 6 26392660 [A/G] NM_001197238,NM_181531,NM_001197240,NM_001197239,NM_006995,NM_001197237 BTN2A2,BTN2A2,BTN2A2,BTN2A2,BTN2A2,BTN2A2 EXON Silent,Missense_R230Q,Silent,Missense_R136Q,Missense_R346Q,Missense_R346Q exm522762 6 26392768 [T/A] NM_001197238,NM_181531,NM_001197240,NM_001197239,NM_006995,NM_001197237 BTN2A2,BTN2A2,BTN2A2,BTN2A2,BTN2A2,BTN2A2 EXON Silent,Missense_H266L,Silent,Missense_H172L,Missense_H382L,Missense_H382L exm522765 6 26392799 [T/G] NM_001197238,NM_181531,NM_001197240,NM_001197239,NM_006995,NM_001197237 BTN2A2,BTN2A2,BTN2A2,BTN2A2,BTN2A2,BTN2A2 EXON Silent,Missense_M276I,Silent,Missense_M182I,Missense_M392I,Missense_M392I exm522766 6 26392801 [T/A] NM_001197238,NM_181531,NM_001197240,NM_001197239,NM_006995,NM_001197237 BTN2A2,BTN2A2,BTN2A2,BTN2A2,BTN2A2,BTN2A2 EXON Silent,Missense_V277E,Silent,Missense_V183E,Missense_V393E,Missense_V393E exm522772 6 26392905 [T/C] NM_001197238,NM_181531,NM_001197240,NM_001197239,NM_006995,NM_001197237 BTN2A2,BTN2A2,BTN2A2,BTN2A2,BTN2A2,BTN2A2 EXON Silent,Missense_R312W,Silent,Missense_R218W,Missense_R428W,Missense_R428W exm522774 6 26392917 [A/T] NM_001197238,NM_181531,NM_001197240,NM_001197239,NM_006995,NM_001197237 BTN2A2,BTN2A2,BTN2A2,BTN2A2,BTN2A2,BTN2A2 EXON Silent,Missense_S316T,Silent,Missense_S222T,Missense_S432T,Missense_S432T exm522783 6 26393058 [T/C] NM_001197238,NM_181531,NM_001197240,NM_001197239,NM_006995,NM_001197237 BTN2A2,BTN2A2,BTN2A2,BTN2A2,BTN2A2,BTN2A2 EXON Silent,Missense_P363S,Silent,Missense_P269S,Missense_P479S,Missense_P479S exm522794 6 26405816 [T/C] NM_001145009,NM_194441,NM_007048,NM_001145008 BTN3A1,BTN3A1,BTN3A1,BTN3A1 EXON Missense_F9L,Missense_F9L,Missense_F9L,Missense_F9L exm522796 6 26405835 [A/G] NM_001145009,NM_194441,NM_007048,NM_001145008 BTN3A1,BTN3A1,BTN3A1,BTN3A1 EXON Missense_R15H,Missense_R15H,Missense_R15H,Missense_R15H exm522809 6 26407919 [A/G] NM_001145009,NM_194441,NM_007048,NM_001145008 BTN3A1,BTN3A1,BTN3A1,BTN3A1 EXON Missense_V152I,Missense_V152I,Missense_V152I,Silent exm522817 6 26408043 [G/C] NM_001145009,NM_194441,NM_007048,NM_001145008 BTN3A1,BTN3A1,BTN3A1,BTN3A1 EXON Missense_P193R,Missense_P193R,Missense_P193R,Silent exm522820 6 26408057 [A/G] NM_001145009,NM_194441,NM_007048,NM_001145008 BTN3A1,BTN3A1,BTN3A1,BTN3A1 EXON Missense_G198R,Missense_G198R,Missense_G198R,Missense_G146R exm2119043 6 26408144 [T/C] NM_001145009,NM_194441,NM_007048,NM_001145008 BTN3A1,BTN3A1,BTN3A1,BTN3A1 EXON Missense_L227F,Missense_L227F,Missense_L227F,Missense_L175F exm522823 6 26408145 [A/T] NM_001145009,NM_194441,NM_007048,NM_001145008 BTN3A1,BTN3A1,BTN3A1,BTN3A1 EXON Missense_L227H,Missense_L227H,Missense_L227H,Missense_L175H exm522828 6 26409782 [A/G] NM_001145009,NM_194441,NM_007048,NM_001145008 BTN3A1,BTN3A1,BTN3A1,BTN3A1 EXON Missense_Q246R,Missense_Q246R,Missense_Q246R,Missense_Q194R exm522836 6 26409890 [G/C] NM_001145009,NM_194441,NM_007048,NM_001145008 BTN3A1,BTN3A1,BTN3A1,BTN3A1 EXON Missense_R282T,Missense_R282T,Missense_R282T,Missense_R230T exm522853 6 26412705 [A/G] NM_001145009,NM_194441,NM_007048,NM_001145008 BTN3A1,BTN3A1,BTN3A1,BTN3A1 EXON Missense_E362K,Silent,Silent,Silent exm522863 6 26413591 [A/G] NM_001145009,NM_194441,NM_007048,NM_001145008 BTN3A1,BTN3A1,BTN3A1,BTN3A1 EXON Silent,Silent,Missense_K405E,Missense_K353E exm522866 6 26413703 [A/G] NM_001145009,NM_194441,NM_007048,NM_001145008 BTN3A1,BTN3A1,BTN3A1,BTN3A1 EXON Silent,Silent,Missense_R442Q,Missense_R390Q exm522870 6 26413744 [A/C] NM_001145009,NM_194441,NM_007048,NM_001145008 BTN3A1,BTN3A1,BTN3A1,BTN3A1 EXON Silent,Silent,Missense_P456T,Missense_P404T exm523004 6 26446066 [A/G] NM_006994,NM_197974,NM_001242803 BTN3A3,BTN3A3,BTN3A3 EXON Missense_V190M,Missense_V148M,Silent exm523009 6 26446172 [T/C] NM_006994,NM_197974,NM_001242803 BTN3A3,BTN3A3,BTN3A3 EXON Missense_S225F,Missense_S183F,Silent exm2275853 6 26448478 [C/G] NM_006994,NM_197974,NM_001242803 BTN3A3,BTN3A3,BTN3A3 EXON Missense_P240A,Missense_P198A,Silent exm2274126 6 26448976 [A/G] NM_006994,NM_197974,NM_001242803 BTN3A3,BTN3A3,BTN3A3 EXON Missense_M320V,Missense_M271V,Missense_M110V exm523041 6 26449895 [A/G] NM_006994,NM_197974,NM_001242803 BTN3A3,BTN3A3,BTN3A3 EXON Missense_E324K,Missense_E275K,Missense_E114K exm523048 6 26451969 [T/C] NM_006994,NM_197974,NM_001242803 BTN3A3,BTN3A3,BTN3A3 EXON Missense_V362A,Missense_V313A,Missense_V152A exm523052 6 26452024 [T/G] NM_006994,NM_197974,NM_001242803 BTN3A3,BTN3A3,BTN3A3 EXON Missense_W380C,Missense_W331C,Missense_W170C exm2119093 6 26452025 [T/C] NM_006994,NM_197974,NM_001242803 BTN3A3,BTN3A3,BTN3A3 EXON Missense_R381C,Missense_R332C,Missense_R171C exm523058 6 26452098 [A/G] NM_006994,NM_197974,NM_001242803 BTN3A3,BTN3A3,BTN3A3 EXON Missense_K405R,Missense_K356R,Missense_K195R exm523069 6 26452274 [T/A] NM_006994,NM_197974,NM_001242803 BTN3A3,BTN3A3,BTN3A3 EXON Missense_F464I,Missense_F415I,Missense_F254I exm523073 6 26452302 [T/C] NM_006994,NM_197974,NM_001242803 BTN3A3,BTN3A3,BTN3A3 EXON Missense_S473L,Missense_S424L,Missense_S263L exm523075 6 26452349 [A/G] NM_006994,NM_197974,NM_001242803 BTN3A3,BTN3A3,BTN3A3 EXON Missense_A489T,Missense_A440T,Missense_A279T exm523077 6 26452389 [T/C] NM_006994,NM_197974,NM_001242803 BTN3A3,BTN3A3,BTN3A3 EXON Missense_L502S,Missense_L453S,Missense_L292S exm523087 6 26452619 [T/C] NM_006994,NM_197974,NM_001242803 BTN3A3,BTN3A3,BTN3A3 EXON Missense_R579C,Missense_R530C,Missense_R369C exm2243619 6 26453642 [T/G] NM_006994,NM_197974,NM_001242803 BTN3A3,BTN3A3,BTN3A3 EXON Silent,Silent,Silent exm523106 6 26459861 [A/G] NM_078476,NM_001197234,NM_007049,NM_001197233 BTN2A1,BTN2A1,BTN2A1,BTN2A1 EXON Missense_K79E,Missense_K79E,Missense_K79E,Missense_K18E exm523107 6 26459864 [T/G] NM_078476,NM_001197234,NM_007049,NM_001197233 BTN2A1,BTN2A1,BTN2A1,BTN2A1 EXON Missense_G80C,Missense_G80C,Missense_G80C,Missense_G19C exm523110 6 26459946 [T/G] NM_078476,NM_001197234,NM_007049,NM_001197233 BTN2A1,BTN2A1,BTN2A1,BTN2A1 EXON Missense_S107I,Missense_S107I,Missense_S107I,Missense_S46I exm2119108 6 26459961 [T/C] NM_078476,NM_001197234,NM_007049,NM_001197233 BTN2A1,BTN2A1,BTN2A1,BTN2A1 EXON Missense_I112T,Missense_I112T,Missense_I112T,Missense_I51T exm523114 6 26459997 [A/G] NM_078476,NM_001197234,NM_007049,NM_001197233 BTN2A1,BTN2A1,BTN2A1,BTN2A1 EXON Missense_R124H,Missense_R124H,Missense_R124H,Missense_R63H exm523117 6 26460047 [A/G] NM_078476,NM_001197234,NM_007049,NM_001197233 BTN2A1,BTN2A1,BTN2A1,BTN2A1 EXON Missense_V141I,Missense_V141I,Missense_V141I,Missense_V80I exm523129 6 26463575 [T/G] NM_078476,NM_001197234,NM_007049,NM_001197233 BTN2A1,BTN2A1,BTN2A1,BTN2A1 EXON Missense_W178C,Missense_W178C,Missense_W178C,Missense_W117C exm523131 6 26463598 [T/C] NM_078476,NM_001197234,NM_007049,NM_001197233 BTN2A1,BTN2A1,BTN2A1,BTN2A1 EXON Missense_A186V,Missense_A186V,Missense_A186V,Missense_A125V exm523133 6 26463621 [A/G] NM_078476,NM_001197234,NM_007049,NM_001197233 BTN2A1,BTN2A1,BTN2A1,BTN2A1 EXON Missense_M194V,Missense_M194V,Missense_M194V,Missense_M133V exm523141 6 26463660 [A/G] NM_078476,NM_001197234,NM_007049,NM_001197233 BTN2A1,BTN2A1,BTN2A1,BTN2A1 EXON Missense_V207M,Missense_V207M,Missense_V207M,Missense_V146M exm2119118 6 26465559 [T/C] NM_078476,NM_001197234,NM_007049,NM_001197233 BTN2A1,BTN2A1,BTN2A1,BTN2A1 EXON Missense_R287W,Missense_R287W,Missense_R287W,Missense_R226W exm523156 6 26465580 [G/C] NM_078476,NM_001197234,NM_007049,NM_001197233 BTN2A1,BTN2A1,BTN2A1,BTN2A1 EXON Missense_L294V,Missense_L294V,Missense_L294V,Missense_L233V exm523194 6 26468502 [A/C] NM_078476,NM_001197234,NM_007049,NM_001197233 BTN2A1,BTN2A1,BTN2A1,BTN2A1 EXON Silent,Silent,Missense_P437T,Missense_P376T exm2276869 6 26468626 [A/C] NM_078476,NM_001197234,NM_007049,NM_001197233 BTN2A1,BTN2A1,BTN2A1,BTN2A1 EXON Silent,Silent,Nonsense_S478X,Nonsense_S417X exm523203 6 26468637 [A/G] NM_078476,NM_001197234,NM_007049,NM_001197233 BTN2A1,BTN2A1,BTN2A1,BTN2A1 EXON Silent,Silent,Missense_V482M,Missense_V421M exm523214 6 26468745 [T/C] NM_078476,NM_001197234,NM_007049,NM_001197233 BTN2A1,BTN2A1,BTN2A1,BTN2A1 EXON Silent,Silent,Missense_L518F,Missense_L457F exm-rs13194984 6 26500563 [T/G] exm523236 6 26502012 [T/C] NM_001732 BTN1A1 EXON Missense_R92C exm523237 6 26502036 [A/G] NM_001732 BTN1A1 EXON Missense_D100N exm523241 6 26502106 [T/C] NM_001732 BTN1A1 EXON Missense_T123M exm523248 6 26505297 [T/C] NM_001732 BTN1A1 EXON Missense_S191F exm523249 6 26505362 [A/G] NM_001732 BTN1A1 EXON Missense_A213T exm523252 6 26505384 [T/C] NM_001732 BTN1A1 EXON Missense_I220T exm2243625 6 26506927 [T/G] NM_001732 BTN1A1 EXON Missense_R242S exm523258 6 26507021 [A/G] NM_001732 BTN1A1 EXON Missense_E274K exm523260 6 26508194 [A/C] NM_001732 BTN1A1 EXON Missense_E292D exm2119142 6 26508197 [T/C] NM_001732 BTN1A1 EXON Synonymous_L293L exm523262 6 26508290 [A/G] NM_001732 BTN1A1 EXON Synonymous_K294K exm523263 6 26508729 [T/C] NM_001732 BTN1A1 EXON Missense_V303A exm2119146 6 26508771 [T/G] NM_001732 BTN1A1 EXON Missense_F317C exm523271 6 26508869 [T/C] NM_001732 BTN1A1 EXON Missense_R350C exm523275 6 26509007 [A/G] NM_001732 BTN1A1 EXON Missense_V396I exm523281 6 26509138 [T/G] NM_001732 BTN1A1 EXON Missense_N439K exm523285 6 26509330 [G/C] NM_001732 BTN1A1 EXON Missense_D503E exm523287 6 26509382 [T/C] NM_001732 BTN1A1 EXON Missense_P521S exm523288 6 26509392 [A/G] NM_001732 BTN1A1 EXON Missense_G524E exm523309 6 26545532 [T/C] NM_006353 HMGN4 EXON Missense_A33V exm523316 6 26545621 [A/G] NM_006353 HMGN4 EXON Missense_G63R exm523317 6 26545625 [A/C] NM_006353 HMGN4 EXON Missense_K64T exm523321 6 26545696 [A/G] NM_006353 HMGN4 EXON Missense_D88N exm523337 6 26597411 [A/C] NM_013375 ABT1 EXON Missense_S67R exm523339 6 26598145 [A/G] NM_013375 ABT1 EXON Missense_R82Q exm523340 6 26598159 [A/G] NM_013375 ABT1 EXON Missense_K87E exm523350 6 26598572 [T/C] NM_013375 ABT1 EXON Missense_A173V exm2264167 6 26624822 [A/C] exm-rs13194491 6 27037080 [T/C] exm-rs7745603 6 27090404 [T/C] exm523405 6 27100096 [A/G] NM_021058 HIST1H2BJ EXON Silent exm523525 6 27114910 [A/G] NM_080596 HIST1H2AH EXON Missense_M1I exm523568 6 27115280 [T/C] NM_080596 HIST1H2AH EXON Missense_H125Y exm2270460 6 27128307 [T/G] exm-rs13194053 6 27143883 [T/C] exm-rs858985 6 27178028 [T/C] exm523577 6 27215709 [A/G] NM_005865 PRSS16 EXON Missense_S40N exm523583 6 27215814 [A/G] NM_005865 PRSS16 EXON Missense_R75Q exm523594 6 27216987 [A/G] NM_005865 PRSS16 EXON Missense_R149H exm523612 6 27219673 [A/C] NM_005865 PRSS16 EXON Missense_L288M exm523613 6 27219674 [T/G] NM_005865 PRSS16 EXON Missense_L288R exm523625 6 27222561 [T/C] NM_005865 PRSS16 EXON Missense_S414P exm523633 6 27222837 [A/G] NM_005865 PRSS16 EXON Missense_R468H exm-rs6932590 6 27248931 [T/C] exm523648 6 27276861 [T/C] NM_033482 POM121L2 EXON Missense_H1030R exm523653 6 27277051 [T/C] NM_033482 POM121L2 EXON Missense_A967T exm523657 6 27277212 [A/C] NM_033482 POM121L2 EXON Missense_S913I exm523658 6 27277365 [A/G] NM_033482 POM121L2 EXON Missense_T862I exm523659 6 27277402 [T/C] NM_033482 POM121L2 EXON Missense_G850S exm523662 6 27277480 [T/C] NM_033482 POM121L2 EXON Missense_T824A exm523663 6 27277503 [A/G] NM_033482 POM121L2 EXON Missense_A816V exm523664 6 27277521 [T/G] NM_033482 POM121L2 EXON Missense_T810N exm523667 6 27277650 [A/G] NM_033482 POM121L2 EXON Missense_S767F exm523668 6 27277665 [A/G] NM_033482 POM121L2 EXON Missense_P762L exm523670 6 27277716 [T/A] NM_033482 POM121L2 EXON Missense_I745N exm523672 6 27277936 [T/C] NM_033482 POM121L2 EXON Missense_A672T exm523677 6 27278179 [T/G] NM_033482 POM121L2 EXON Missense_P591T exm523678 6 27278181 [T/G] NM_033482 POM121L2 EXON Missense_T590K exm2243641 6 27278272 [T/C] NM_033482 POM121L2 EXON Missense_A560T exm523688 6 27278634 [G/C] NM_033482 POM121L2 EXON Missense_S439T exm523695 6 27279021 [C/G] NM_033482 POM121L2 EXON Missense_G310A exm523707 6 27279632 [A/C] NM_033482 POM121L2 EXON Missense_W106C exm523709 6 27279774 [T/C] NM_033482 POM121L2 EXON Missense_R59Q exm523710 6 27279805 [T/G] NM_033482 POM121L2 EXON Missense_P49T exm523713 6 27279852 [T/C] NM_033482 POM121L2 EXON Missense_Q33R exm523714 6 27279877 [T/C] NM_033482 POM121L2 EXON Missense_R25G exm523720 6 27293107 [A/G] NR_045612 VN1R10P EXON Silent exm523721 6 27293114 [T/A] NR_045612 VN1R10P EXON Silent exm523723 6 27293147 [T/A] NR_045612 VN1R10P EXON Silent exm523726 6 27293220 [A/G] NR_045612 VN1R10P EXON Silent exm523731 6 27293272 [A/G] NR_045612 VN1R10P EXON Silent exm523735 6 27293382 [A/C] NR_045612 VN1R10P EXON Silent exm2119290 6 27368276 [T/G] NM_001076781 ZNF391 EXON Missense_V43F exm523745 6 27368366 [A/G] NM_001076781 ZNF391 EXON Missense_A73T exm523747 6 27368430 [C/G] NM_001076781 ZNF391 EXON Nonsense_S94X exm523748 6 27368453 [A/C] NM_001076781 ZNF391 EXON Missense_L102I exm523752 6 27368594 [A/C] NM_001076781 ZNF391 EXON Missense_S149R exm523756 6 27368751 [C/G] NM_001076781 ZNF391 EXON Missense_A201G exm523758 6 27368766 [A/C] NM_001076781 ZNF391 EXON Missense_T206N exm523761 6 27368874 [T/C] NM_001076781 ZNF391 EXON Missense_I242T exm523768 6 27368957 [A/T] NM_001076781 ZNF391 EXON Missense_T270S exm523794 6 27419389 [A/G] NM_007149 ZNF184 EXON Missense_T650I exm523827 6 27420698 [T/C] NM_007149 ZNF184 EXON Missense_N214D exm523834 6 27421022 [C/G] NM_007149 ZNF184 EXON Missense_E106Q exm523845 6 27425185 [A/C] NM_007149 ZNF184 EXON Missense_A27S exm523847 6 27435642 [A/G] NM_007149 ZNF184 EXON Missense_A22V exm523877 6 27775647 [T/C] NM_003519 HIST1H2BL EXON Missense_K13R exm523880 6 27775674 [A/G] NM_003519 HIST1H2BL EXON Missense_L4P exm523913 6 27776353 [C/G] NM_003509 HIST1H2AI EXON Missense_E122D exm523965 6 27782834 [A/G] NM_003521 HIST1H2BM EXON Missense_V5I exm2119376 6 27782846 [T/C] NM_003521 HIST1H2BM EXON Missense_P9S exm523969 6 27782862 [A/G] NM_003521 HIST1H2BM EXON Missense_G14D exm523971 6 27782885 [A/G] NM_003521 HIST1H2BM EXON Missense_A22T exm2257713 6 27792196 [T/C] NM_021968 HIST1H4J EXON Synonymous_L98L exm524058 6 27805970 [C/G] NM_003510 HIST1H2AK EXON Missense_V50L exm524068 6 27806078 [T/G] NM_003510 HIST1H2AK EXON Missense_K14Q exm524104 6 27833137 [T/C] NM_003511 HIST1H2AL EXON Missense_S2L exm524140 6 27834677 [T/C] NM_005322 HIST1H1B EXON Missense_A211T exm2243653 6 27834767 [T/C] NM_005322 HIST1H1B EXON Missense_A181T exm524151 6 27834790 [A/C] NM_005322 HIST1H1B EXON Missense_S173I exm524160 6 27834857 [A/C] NM_005322 HIST1H1B EXON Missense_A151S exm524163 6 27834877 [T/C] NM_005322 HIST1H1B EXON Missense_K144R exm524165 6 27834904 [A/G] NM_005322 HIST1H1B EXON Missense_A135V exm524166 6 27834946 [T/G] NM_005322 HIST1H1B EXON Missense_P121H exm524185 6 27835226 [G/C] NM_005322 HIST1H1B EXON Missense_A28P exm524189 6 27835250 [T/C] NM_005322 HIST1H1B EXON Missense_A20T exm2119454 6 27835293 [A/C] NM_005322 HIST1H1B EXON Synonymous_A5A exm2257714 6 27835293 [A/C] NM_005322 HIST1H1B EXON Synonymous_A5A exm524214 6 27840926 [T/C] NM_003546 HIST1H4L EXON Silent exm524216 6 27840982 [T/C] NM_003546 HIST1H4L EXON Missense_G103S exm524228 6 27841129 [T/C] NM_003546 HIST1H4L EXON Missense_E54K exm524231 6 27841182 [A/C] NM_003546 HIST1H4L EXON Missense_R36L exm524307 6 27879055 [A/T] NM_033057 OR2B2 EXON Missense_Y348F exm2119513 6 27879190 [T/C] NM_033057 OR2B2 EXON Missense_R303K exm524318 6 27879200 [A/C] NM_033057 OR2B2 EXON Missense_A300S exm524321 6 27879281 [T/C] NM_033057 OR2B2 EXON Missense_M273V exm524322 6 27879289 [T/C] NM_033057 OR2B2 EXON Missense_R270Q exm524330 6 27879395 [A/G] NM_033057 OR2B2 EXON Nonsense_R235X exm524331 6 27879397 [T/C] NM_033057 OR2B2 EXON Missense_Q234R exm524332 6 27879448 [A/G] NM_033057 OR2B2 EXON Missense_S217L exm524337 6 27879715 [T/C] NM_033057 OR2B2 EXON Missense_R128Q exm524344 6 27879869 [T/G] NM_033057 OR2B2 EXON Missense_T77P exm524345 6 27879872 [T/C] NM_033057 OR2B2 EXON Missense_S76G exm524346 6 27879877 [A/G] NM_033057 OR2B2 EXON Missense_T74I exm524348 6 27879932 [A/G] NM_033057 OR2B2 EXON Missense_H56Y exm2119516 6 27879935 [A/G] NM_033057 OR2B2 EXON Missense_L55F exm524351 6 27879982 [A/G] NM_033057 OR2B2 EXON Missense_I39T exm524357 6 27925076 [C/G] NM_012367 OR2B6 EXON Missense_R20G exm524362 6 27925167 [T/G] NM_012367 OR2B6 EXON Missense_R50L exm524368 6 27925367 [A/G] NM_012367 OR2B6 EXON Missense_V117I exm524369 6 27925394 [A/G] NM_012367 OR2B6 EXON Missense_I126V exm524378 6 27925533 [A/G] NM_012367 OR2B6 EXON Missense_Y172C exm524380 6 27925629 [A/T] NM_012367 OR2B6 EXON Missense_E204V exm524383 6 27925668 [T/C] NM_012367 OR2B6 EXON Missense_S217L exm524388 6 27925784 [A/G] NM_012367 OR2B6 EXON Missense_V256I exm524389 6 27925790 [A/G] NM_012367 OR2B6 EXON Missense_V258M exm524392 6 27925827 [A/G] NM_012367 OR2B6 EXON Missense_Q270R exm524400 6 27925916 [A/G] NM_012367 OR2B6 EXON Missense_G300S exm524406 6 28053463 [T/C] NM_003447 ZNF165 EXON Missense_R69C exm524407 6 28053464 [A/G] NM_003447 ZNF165 EXON Missense_R69H exm524412 6 28053573 [T/G] NM_003447 ZNF165 EXON Missense_L105F exm524414 6 28053978 [T/C] NM_003447 ZNF165 EXON Missense_I147T exm524425 6 28056646 [T/G] NM_003447 ZNF165 EXON Missense_F286V exm524431 6 28056818 [T/C] NM_003447 ZNF165 EXON Missense_T343I exm524433 6 28056829 [T/A] NM_003447 ZNF165 EXON Missense_N347Y exm524436 6 28056961 [T/C] NM_003447 ZNF165 EXON Missense_R391W exm524439 6 28057124 [A/G] NM_003447 ZNF165 EXON Missense_R445Q exm524451 6 28093526 [A/G] NM_025231 ZSCAN16 EXON Missense_R102H exm524458 6 28094610 [T/C] NM_025231 ZSCAN16 EXON Missense_P146L exm524459 6 28094631 [A/C] NM_025231 ZSCAN16 EXON Nonsense_S153X exm524465 6 28097249 [T/G] NM_025231 ZSCAN16 EXON Nonsense_E190X exm524470 6 28097302 [A/C] NM_025231 ZSCAN16 EXON Missense_N207K exm524475 6 28097387 [T/C] NM_025231 ZSCAN16 EXON Missense_Y236H exm524480 6 28097495 [A/G] NM_025231 ZSCAN16 EXON Missense_A272T exm524486 6 28097558 [A/C] NM_025231 ZSCAN16 EXON Missense_K293Q exm524488 6 28097696 [T/C] NM_025231 ZSCAN16 EXON Nonsense_Q339X exm524491 6 28097720 [T/C] NM_025231 ZSCAN16 EXON Missense_L347F exm524497 6 28116310 [A/G] NM_006298 ZKSCAN8 EXON Missense_S42N exm524501 6 28116342 [A/C] NM_006298 ZKSCAN8 EXON Missense_R53S exm524505 6 28117273 [A/G] NM_006298 ZKSCAN8 EXON Missense_V144I exm524507 6 28117331 [T/C] NM_006298 ZKSCAN8 EXON Missense_P163L exm524519 6 28120927 [A/G] NM_006298 ZKSCAN8 EXON Missense_N290S exm524522 6 28120944 [A/G] NM_006298 ZKSCAN8 EXON Missense_G296S exm524528 6 28121032 [A/C] NM_006298 ZKSCAN8 EXON Missense_D325A exm524538 6 28121284 [A/G] NM_006298 ZKSCAN8 EXON Missense_N409S exm524554 6 28121790 [A/G] NM_006298 ZKSCAN8 EXON Missense_V578I exm2243657 6 28130359 [A/G] exm524558 6 28134368 [A/G] exm524561 6 28134517 [T/C] exm2270302 6 28142276 [T/C] exm524574 6 28194963 [A/G] NM_001199480,NM_006299,NM_001199479 ZSCAN9,ZSCAN9,ZSCAN9 EXON Missense_Q34R,Missense_Q34R,Missense_Q34R exm524583 6 28195278 [A/G] NM_001199480,NM_006299,NM_001199479 ZSCAN9,ZSCAN9,ZSCAN9 EXON Missense_H139R,Missense_H139R,Missense_H139R exm524589 6 28198122 [T/C] NM_001199480,NM_006299,NM_001199479 ZSCAN9,ZSCAN9,ZSCAN9 EXON Silent,Silent,Nonsense_R193X exm524590 6 28200357 [A/G] NM_001199480,NM_006299,NM_001199479 ZSCAN9,ZSCAN9,ZSCAN9 EXON Missense_E196K,Missense_E196K,Missense_E247K exm524592 6 28200399 [T/G] NM_001199480,NM_006299,NM_001199479 ZSCAN9,ZSCAN9,ZSCAN9 EXON Missense_V210L,Missense_V210L,Missense_V261L exm524595 6 28200492 [T/A] NM_001199480,NM_006299,NM_001199479 ZSCAN9,ZSCAN9,ZSCAN9 EXON Missense_I241L,Missense_I241L,Missense_I292L exm524597 6 28200532 [A/G] NM_001199480,NM_006299,NM_001199479 ZSCAN9,ZSCAN9,ZSCAN9 EXON Missense_H254R,Missense_H254R,Missense_H305R exm524600 6 28200673 [A/G] NM_001199480,NM_006299,NM_001199479 ZSCAN9,ZSCAN9,ZSCAN9 EXON Missense_R301Q,Missense_R301Q,Missense_R352Q exm524607 6 28200789 [T/C] NM_001199480,NM_006299,NM_001199479 ZSCAN9,ZSCAN9,ZSCAN9 EXON Missense_C340R,Missense_C340R,Missense_C391R exm524609 6 28200816 [T/C] NM_001199480,NM_006299,NM_001199479 ZSCAN9,ZSCAN9,ZSCAN9 EXON Missense_R349W,Missense_R349W,Missense_R400W exm524610 6 28200820 [A/G] NM_001199480,NM_006299,NM_001199479 ZSCAN9,ZSCAN9,ZSCAN9 EXON Missense_R350H,Missense_R350H,Missense_R401H exm524612 6 28200858 [T/G] NM_001199480,NM_006299,NM_001199479 ZSCAN9,ZSCAN9,ZSCAN9 EXON Nonsense_E363X,Nonsense_E363X,Nonsense_E414X exm524631 6 28213031 [T/C] NM_019110 ZKSCAN4 EXON Missense_S501G exm524632 6 28213040 [A/G] NM_019110 ZKSCAN4 EXON Missense_R498W exm524635 6 28213069 [T/G] NM_019110 ZKSCAN4 EXON Missense_K488T exm2119607 6 28213219 [T/C] NM_019110 ZKSCAN4 EXON Missense_G438D exm524646 6 28213393 [T/G] NM_019110 ZKSCAN4 EXON Missense_E380A exm524664 6 28213606 [T/C] NM_019110 ZKSCAN4 EXON Missense_R309K exm524667 6 28213660 [A/G] NM_019110 ZKSCAN4 EXON Missense_I291T exm524670 6 28214748 [A/G] NM_019110 ZKSCAN4 EXON Synonymous_L259L exm524675 6 28214803 [T/A] NM_019110 ZKSCAN4 EXON Missense_Q241L exm524709 6 28219661 [A/G] NM_019110 ZKSCAN4 EXON Missense_S33F exm524716 6 28227156 [T/C] NM_001007531 NKAPL EXON Missense_P3S exm524718 6 28227217 [T/C] NM_001007531 NKAPL EXON Missense_S23F exm524721 6 28227273 [T/C] NM_001007531 NKAPL EXON Missense_R42C exm2119632 6 28227378 [A/G] NM_001007531 NKAPL EXON Missense_R77G exm524725 6 28227388 [A/T] NM_001007531 NKAPL EXON Missense_N80I exm524726 6 28227400 [T/C] NM_001007531 NKAPL EXON Missense_A84V exm524729 6 28227436 [A/G] NM_001007531 NKAPL EXON Missense_Y96C exm524739 6 28227604 [A/C] NM_001007531 NKAPL EXON Missense_T152N exm524740 6 28227633 [T/C] NM_001007531 NKAPL EXON Missense_H162Y exm524741 6 28227683 [C/G] NM_001007531 NKAPL EXON Missense_K178N exm524746 6 28227819 [A/G] NM_001007531 NKAPL EXON Missense_K224E exm524748 6 28227862 [A/C] NM_001007531 NKAPL EXON Missense_K238T exm524750 6 28227993 [A/G] NM_001007531 NKAPL EXON Missense_A282T exm524752 6 28228107 [T/C] NM_001007531 NKAPL EXON Nonsense_R320X exm524755 6 28228209 [C/G] NM_001007531 NKAPL EXON Missense_L354V exm524756 6 28228243 [A/C] NM_001007531 NKAPL EXON Missense_E365A exm524761 6 28228336 [A/C] NM_001007531 NKAPL EXON Missense_T396K exm524762 6 28228342 [A/G] NM_001007531 NKAPL EXON Missense_E398G exm524764 6 28239741 [A/G] NM_152736,NM_001111039,NM_001023560 ZSCAN26,ZSCAN26,ZSCAN26 EXON Silent,Missense_N15S,Missense_N15S exm2243663 6 28239858 [A/T] NM_152736,NM_001111039,NM_001023560 ZSCAN26,ZSCAN26,ZSCAN26 EXON Silent,Missense_F54Y,Missense_F54Y exm524767 6 28239873 [A/G] NM_152736,NM_001111039,NM_001023560 ZSCAN26,ZSCAN26,ZSCAN26 EXON Silent,Missense_Y59C,Missense_Y59C exm524769 6 28239915 [A/G] NM_152736,NM_001111039,NM_001023560 ZSCAN26,ZSCAN26,ZSCAN26 EXON Silent,Missense_R73Q,Missense_R73Q exm524773 6 28240091 [T/A] NM_152736,NM_001111039,NM_001023560 ZSCAN26,ZSCAN26,ZSCAN26 EXON Silent,Missense_I132F,Missense_I132F exm524775 6 28240525 [T/C] NM_152736,NM_001111039,NM_001023560 ZSCAN26,ZSCAN26,ZSCAN26 EXON Missense_R32W,Synonymous_F165F,Synonymous_F166F exm524778 6 28243978 [A/G] NM_152736,NM_001111039,NM_001023560 ZSCAN26,ZSCAN26,ZSCAN26 EXON Missense_E47G,Missense_R181G,Missense_R182G exm524779 6 28243990 [A/C] NM_152736,NM_001111039,NM_001023560 ZSCAN26,ZSCAN26,ZSCAN26 EXON Missense_E51A,Synonymous_R185R,Synonymous_R186R exm2243667 6 28244741 [A/G] NM_152736,NM_001111039,NM_001023560 ZSCAN26,ZSCAN26,ZSCAN26 EXON Synonymous_S301S,Missense_H435R,Missense_H436R exm524805 6 28251610 [A/G] NM_001184743,NM_032507 PGBD1,PGBD1 EXON Missense_G7D,Missense_G7D exm524806 6 28251625 [A/G] NM_001184743,NM_032507 PGBD1,PGBD1 EXON Missense_N12S,Missense_N12S exm524808 6 28251663 [A/G] NM_001184743,NM_032507 PGBD1,PGBD1 EXON Missense_T25A,Missense_T25A exm524809 6 28251685 [T/C] NM_001184743,NM_032507 PGBD1,PGBD1 EXON Missense_S32L,Missense_S32L exm524819 6 28251786 [T/C] NM_001184743,NM_032507 PGBD1,PGBD1 EXON Nonsense_R66X,Nonsense_R66X exm524822 6 28251862 [A/G] NM_001184743,NM_032507 PGBD1,PGBD1 EXON Missense_Q91R,Missense_Q91R exm2274129 6 28251925 [A/G] NM_001184743,NM_032507 PGBD1,PGBD1 EXON Missense_G112E,Missense_G112E exm524828 6 28253371 [T/C] NM_001184743,NM_032507 PGBD1,PGBD1 EXON Missense_A147V,Missense_A147V exm524830 6 28254862 [G/C] NM_001184743,NM_032507 PGBD1,PGBD1 EXON Missense_V187L,Missense_V187L exm524831 6 28254881 [A/G] NM_001184743,NM_032507 PGBD1,PGBD1 EXON Missense_H193R,Missense_H193R exm524833 6 28254927 [A/T] NM_001184743,NM_032507 PGBD1,PGBD1 EXON Missense_F208L,Missense_F208L exm524836 6 28264618 [T/C] NM_001184743,NM_032507 PGBD1,PGBD1 EXON Missense_T223I,Missense_T223I exm524838 6 28264629 [A/G] NM_001184743,NM_032507 PGBD1,PGBD1 EXON Missense_V227I,Missense_V227I exm524840 6 28264665 [T/C] NM_001184743,NM_032507 PGBD1,PGBD1 EXON Missense_R239W,Missense_R239W exm524843 6 28264681 [A/G] NM_001184743,NM_032507 PGBD1,PGBD1 EXON Missense_G244E,Missense_G244E exm524844 6 28264692 [C/G] NM_001184743,NM_032507 PGBD1,PGBD1 EXON Missense_Q248E,Missense_Q248E exm524845 6 28264717 [T/C] NM_001184743,NM_032507 PGBD1,PGBD1 EXON Missense_P256L,Missense_P256L exm524856 6 28268581 [A/G] NM_001184743,NM_032507 PGBD1,PGBD1 EXON Missense_R317H,Missense_R317H exm524859 6 28268667 [A/G] NM_001184743,NM_032507 PGBD1,PGBD1 EXON Missense_D346N,Missense_D346N exm524866 6 28268824 [A/G] NM_001184743,NM_032507 PGBD1,PGBD1 EXON Missense_N398S,Missense_N398S exm524874 6 28269253 [A/G] NM_001184743,NM_032507 PGBD1,PGBD1 EXON Missense_E541G,Missense_E541G exm524876 6 28269321 [A/G] NM_001184743,NM_032507 PGBD1,PGBD1 EXON Missense_I564V,Missense_I564V exm524880 6 28269407 [A/G] NM_001184743,NM_032507 PGBD1,PGBD1 EXON Missense_M592I,Missense_M592I exm524881 6 28269416 [T/G] NM_001184743,NM_032507 PGBD1,PGBD1 EXON Missense_D595E,Missense_D595E exm524888 6 28269511 [A/G] NM_001184743,NM_032507 PGBD1,PGBD1 EXON Missense_D627G,Missense_D627G exm524893 6 28269663 [A/G] NM_001184743,NM_032507 PGBD1,PGBD1 EXON Missense_I678V,Missense_I678V exm524902 6 28269871 [T/C] NM_001184743,NM_032507 PGBD1,PGBD1 EXON Missense_S747L,Missense_S747L exm524904 6 28270021 [T/C] NM_001184743,NM_032507 PGBD1,PGBD1 EXON Missense_A797V,Missense_A797V exm524906 6 28270047 [G/C] NM_001184743,NM_032507 PGBD1,PGBD1 EXON Missense_H806D,Missense_H806D exm524910 6 28293992 [T/C] NM_001243244,NM_001243242,NM_001243243,NM_001243241,NM_001135216,NM_030899 ZSCAN31,ZSCAN31,ZSCAN31,ZSCAN31,ZSCAN31,ZSCAN31 EXON Missense_R232Q,Missense_R232Q,Missense_R232Q,Missense_R391Q,Missense_R391Q,Missense_R391Q exm-IND6-28402187 6 28294209 [I/D] NM_001243244,NM_001243242,NM_001243243,NM_001243241,NM_001135216,NM_030899 ZSCAN31,ZSCAN31,ZSCAN31,ZSCAN31,ZSCAN31,ZSCAN31 EXON exm524921 6 28294305 [A/G] NM_001243244,NM_001243242,NM_001243243,NM_001243241,NM_001135216,NM_030899 ZSCAN31,ZSCAN31,ZSCAN31,ZSCAN31,ZSCAN31,ZSCAN31 EXON Missense_R128W,Missense_R128W,Missense_R128W,Missense_R287W,Missense_R287W,Missense_R287W exm524922 6 28294308 [A/G] NM_001243244,NM_001243242,NM_001243243,NM_001243241,NM_001135216,NM_030899 ZSCAN31,ZSCAN31,ZSCAN31,ZSCAN31,ZSCAN31,ZSCAN31 EXON Missense_R127W,Missense_R127W,Missense_R127W,Missense_R286W,Missense_R286W,Missense_R286W exm524924 6 28294331 [T/C] NM_001243244,NM_001243242,NM_001243243,NM_001243241,NM_001135216,NM_030899 ZSCAN31,ZSCAN31,ZSCAN31,ZSCAN31,ZSCAN31,ZSCAN31 EXON Missense_R119Q,Missense_R119Q,Missense_R119Q,Missense_R278Q,Missense_R278Q,Missense_R278Q exm524927 6 28294400 [A/G] NM_001243244,NM_001243242,NM_001243243,NM_001243241,NM_001135216,NM_030899 ZSCAN31,ZSCAN31,ZSCAN31,ZSCAN31,ZSCAN31,ZSCAN31 EXON Missense_I96T,Missense_I96T,Missense_I96T,Missense_I255T,Missense_I255T,Missense_I255T exm524931 6 28294499 [T/C] NM_001243244,NM_001243242,NM_001243243,NM_001243241,NM_001135216,NM_030899 ZSCAN31,ZSCAN31,ZSCAN31,ZSCAN31,ZSCAN31,ZSCAN31 EXON Missense_R63Q,Missense_R63Q,Missense_R63Q,Missense_R222Q,Missense_R222Q,Missense_R222Q exm524935 6 28294550 [T/C] NM_001243244,NM_001243242,NM_001243243,NM_001243241,NM_001135216,NM_030899 ZSCAN31,ZSCAN31,ZSCAN31,ZSCAN31,ZSCAN31,ZSCAN31 EXON Missense_K46R,Missense_K46R,Missense_K46R,Missense_K205R,Missense_K205R,Missense_K205R exm524944 6 28295310 [G/C] NM_001243244,NM_001243242,NM_001243243,NM_001243241,NM_001135216,NM_030899 ZSCAN31,ZSCAN31,ZSCAN31,ZSCAN31,ZSCAN31,ZSCAN31 EXON Silent,Silent,Silent,Missense_A128P,Missense_A128P,Missense_A128P exm524955 6 28297279 [T/C] NM_001243244,NM_001243242,NM_001243243,NM_001243241,NM_001135216,NM_030899 ZSCAN31,ZSCAN31,ZSCAN31,ZSCAN31,ZSCAN31,ZSCAN31 EXON Silent,Silent,Silent,Missense_R61Q,Missense_R61Q,Missense_R61Q exm524957 6 28297285 [T/C] NM_001243244,NM_001243242,NM_001243243,NM_001243241,NM_001135216,NM_030899 ZSCAN31,ZSCAN31,ZSCAN31,ZSCAN31,ZSCAN31,ZSCAN31 EXON Silent,Silent,Silent,Missense_R59Q,Missense_R59Q,Missense_R59Q exm2119682 6 28297286 [A/G] NM_001243244,NM_001243242,NM_001243243,NM_001243241,NM_001135216,NM_030899 ZSCAN31,ZSCAN31,ZSCAN31,ZSCAN31,ZSCAN31,ZSCAN31 EXON Silent,Silent,Silent,Missense_R59W,Missense_R59W,Missense_R59W exm524960 6 28297313 [T/A] NM_001243244,NM_001243242,NM_001243243,NM_001243241,NM_001135216,NM_030899 ZSCAN31,ZSCAN31,ZSCAN31,ZSCAN31,ZSCAN31,ZSCAN31 EXON Silent,Silent,Silent,Missense_T50S,Missense_T50S,Missense_T50S exm2119684 6 28297360 [G/C] NM_001243244,NM_001243242,NM_001243243,NM_001243241,NM_001135216,NM_030899 ZSCAN31,ZSCAN31,ZSCAN31,ZSCAN31,ZSCAN31,ZSCAN31 EXON Silent,Silent,Silent,Missense_G34A,Missense_G34A,Missense_G34A exm2257715 6 28297368 [A/G] NM_001243244,NM_001243242,NM_001243243,NM_001243241,NM_001135216,NM_030899 ZSCAN31,ZSCAN31,ZSCAN31,ZSCAN31,ZSCAN31,ZSCAN31 EXON Silent,Silent,Silent,Synonymous_N31N,Synonymous_N31N,Synonymous_N31N exm524962 6 28297368 [A/G] NM_001243244,NM_001243242,NM_001243243,NM_001243241,NM_001135216,NM_030899 ZSCAN31,ZSCAN31,ZSCAN31,ZSCAN31,ZSCAN31,ZSCAN31 EXON Silent,Silent,Silent,Synonymous_N31N,Synonymous_N31N,Synonymous_N31N exm2243671 6 28309569 [T/G] exm524966 6 28327371 [C/G] NM_001242895,NM_001242894,NM_024493 ZKSCAN3,ZKSCAN3,ZKSCAN3 EXON Silent,Missense_R3T,Missense_R3T exm524989 6 28329168 [G/C] NM_001242895,NM_001242894,NM_024493 ZKSCAN3,ZKSCAN3,ZKSCAN3 EXON Missense_G9A,Missense_G157A,Missense_G157A exm2274130 6 28329197 [A/C] NM_001242895,NM_001242894,NM_024493 ZKSCAN3,ZKSCAN3,ZKSCAN3 EXON Missense_K19Q,Missense_K167Q,Missense_K167Q exm524992 6 28331094 [A/G] NM_001242895,NM_001242894,NM_024493 ZKSCAN3,ZKSCAN3,ZKSCAN3 EXON Missense_V41M,Missense_V189M,Missense_V189M exm524993 6 28331127 [A/G] NM_001242895,NM_001242894,NM_024493 ZKSCAN3,ZKSCAN3,ZKSCAN3 EXON Missense_K52E,Missense_K200E,Missense_K200E exm524994 6 28331128 [A/C] NM_001242895,NM_001242894,NM_024493 ZKSCAN3,ZKSCAN3,ZKSCAN3 EXON Missense_K52T,Missense_K200T,Missense_K200T exm2119689 6 28331537 [T/G] NM_001242895,NM_001242894,NM_024493 ZKSCAN3,ZKSCAN3,ZKSCAN3 EXON Missense_Q86H,Missense_Q234H,Missense_Q234H exm525000 6 28331573 [A/T] NM_001242895,NM_001242894,NM_024493 ZKSCAN3,ZKSCAN3,ZKSCAN3 EXON Missense_H98Q,Missense_H246Q,Missense_H246Q exm525025 6 28333754 [T/C] NM_001242895,NM_001242894,NM_024493 ZKSCAN3,ZKSCAN3,ZKSCAN3 EXON Nonsense_R289X,Nonsense_R437X,Nonsense_R437X exm525028 6 28333898 [T/C] NM_001242895,NM_001242894,NM_024493 ZKSCAN3,ZKSCAN3,ZKSCAN3 EXON Missense_C337R,Missense_C485R,Missense_C485R exm525051 6 28358320 [A/G] NR_028077,NM_001163391 ZSCAN12,ZSCAN12 EXON Silent,Missense_C583R exm525052 6 28358335 [G/C] NR_028077,NM_001163391 ZSCAN12,ZSCAN12 EXON Silent,Missense_R578G exm525071 6 28358893 [T/C] NR_028077,NM_001163391 ZSCAN12,ZSCAN12 EXON Silent,Missense_N392D exm525073 6 28359073 [A/G] NR_028077,NM_001163391 ZSCAN12,ZSCAN12 EXON Silent,Missense_C332R exm525076 6 28359186 [T/C] NR_028077,NM_001163391 ZSCAN12,ZSCAN12 EXON Silent,Missense_R294K exm2243675 6 28366145 [T/C] NR_028077,NM_001163391 ZSCAN12,ZSCAN12 EXON Silent,Missense_Q13R exm525084 6 28366151 [A/G] NR_028077,NM_001163391 ZSCAN12,ZSCAN12 EXON Silent,Missense_M11T exm2257717 6 28402335 [T/C] NM_001012455 ZSCAN23 EXON Synonymous_R359R exm525096 6 28402717 [C/G] NM_001012455 ZSCAN23 EXON Missense_R232P exm2257718 6 28403352 [A/G] NM_001012455 ZSCAN23 EXON Synonymous_F147F exm525135 6 28472172 [A/G] NM_182701 GPX6 EXON Missense_V188A exm525136 6 28472232 [T/C] NM_182701 GPX6 EXON Missense_Q168R exm525138 6 28472253 [T/C] NM_182701 GPX6 EXON Missense_D161G exm525139 6 28472266 [A/G] NM_182701 GPX6 EXON Missense_P157S exm525141 6 28473521 [T/C] NM_182701 GPX6 EXON Missense_V140M exm525143 6 28473548 [T/C] NM_182701 GPX6 EXON Missense_S131G exm525149 6 28474088 [T/C] NM_182701 GPX6 Silent exm525152 6 28478555 [A/T] NM_182701 GPX6 EXON Missense_Y72N exm525153 6 28478595 [A/C] NM_182701 GPX6 EXON Missense_Q58H exm525154 6 28478612 [A/G] NM_182701 GPX6 EXON Missense_Y53H exm525160 6 28483444 [T/G] NM_182701 GPX6 EXON Missense_Q26P exm525161 6 28483482 [A/C] NM_182701 GPX6 EXON Missense_F13L exm2119722 6 28493808 [C/G] NM_001509,NM_003996 GPX5,GPX5 EXON Missense_R6S,Missense_R6S exm525169 6 28497279 [A/G] NM_001509,NM_003996 GPX5,GPX5 EXON Missense_A47T,Missense_A47T exm525172 6 28497339 [A/G] NM_001509,NM_003996 GPX5,GPX5 EXON Missense_V67I,Missense_V67I exm525173 6 28497370 [T/C] NM_001509,NM_003996 GPX5,GPX5 EXON Missense_A77V,Missense_A77V exm525175 6 28499566 [C/G] NM_001509,NM_003996 GPX5,GPX5 EXON Missense_L85V,Silent exm525176 6 28499567 [T/C] NM_001509,NM_003996 GPX5,GPX5 EXON Missense_L85P,Silent exm2119728 6 28499674 [T/A] NM_001509,NM_003996 GPX5,GPX5 Silent,Silent exm525187 6 28501769 [A/G] NM_001509,NM_003996 GPX5,GPX5 EXON Missense_G164D,Silent exm2257719 6 28501869 [T/C] NM_001509,NM_003996 GPX5,GPX5 EXON Synonymous_R197R,Silent exm525217 6 28540108 [T/G] NM_052923 SCAND3 EXON Missense_L1186F exm525227 6 28540443 [A/G] NM_052923 SCAND3 EXON Nonsense_R1075X exm525229 6 28540475 [T/C] NM_052923 SCAND3 EXON Missense_R1064Q exm525236 6 28540635 [T/C] NM_052923 SCAND3 EXON Missense_I1011V exm525239 6 28540728 [A/G] NM_052923 SCAND3 EXON Missense_H980Y exm525246 6 28540989 [T/G] NM_052923 SCAND3 EXON Missense_I893L exm525251 6 28541232 [T/C] NM_052923 SCAND3 EXON Missense_V812I exm525254 6 28541333 [T/C] NM_052923 SCAND3 EXON Missense_R778Q exm525265 6 28542491 [A/C] NM_052923 SCAND3 EXON Missense_L664W exm525276 6 28542902 [A/G] NM_052923 SCAND3 EXON Missense_A527V exm525280 6 28543011 [T/C] NM_052923 SCAND3 EXON Missense_N491D exm525284 6 28543044 [A/G] NM_052923 SCAND3 EXON Nonsense_R480X exm525286 6 28543089 [T/G] NM_052923 SCAND3 EXON Missense_Q465K exm525295 6 28543407 [G/C] NM_052923 SCAND3 EXON Missense_L359V exm525314 6 28547085 [A/C] NM_052923 SCAND3 EXON Missense_C178G exm525319 6 28554158 [A/G] NM_052923 SCAND3 EXON Missense_R113W exm525320 6 28554161 [A/C] NM_052923 SCAND3 EXON Missense_V112L exm525321 6 28554242 [T/C] NM_052923 SCAND3 EXON Missense_I85V exm2266172 6 28665109 [A/G] exm-rs4324798 6 28776117 [A/G] exm525334 6 28871915 [T/C] NM_006510 TRIM27 EXON Missense_M492V exm525344 6 28872280 [T/C] NM_006510 TRIM27 EXON Missense_R370K exm525384 6 28891213 [T/C] NM_006510 TRIM27 EXON Missense_R66Q exm525388 6 28891396 [T/C] NM_006510 TRIM27 EXON Missense_S5N exm-rs4947339 6 28916252 [T/C] exm525394 6 28962827 [A/G] NM_001010877 ZNF311 EXON Missense_P651L exm525397 6 28962986 [A/T] NM_001010877 ZNF311 EXON Missense_L598Q exm525400 6 28963010 [T/G] NM_001010877 ZNF311 EXON Missense_T590K exm525403 6 28963093 [T/C] NM_001010877 ZNF311 EXON Missense_M562I exm2119802 6 28963322 [C/G] NM_001010877 ZNF311 EXON Missense_R486P exm525415 6 28963323 [A/G] NM_001010877 ZNF311 EXON Missense_R486C exm525421 6 28963475 [T/C] NM_001010877 ZNF311 EXON Missense_R435Q exm525428 6 28963730 [T/C] NM_001010877 ZNF311 EXON Missense_Q350R exm525431 6 28963820 [T/C] NM_001010877 ZNF311 EXON Missense_R320Q exm525440 6 28964249 [T/C] NM_001010877 ZNF311 EXON Missense_R177Q exm525447 6 28966512 [T/C] NM_001010877 ZNF311 EXON Synonymous_P138P exm525450 6 28967274 [G/C] NM_001010877 ZNF311 EXON Missense_M100I exm525453 6 28967384 [T/C] NM_001010877 ZNF311 EXON Missense_V64M exm525456 6 28967767 [A/G] NM_001010877 ZNF311 EXON Missense_P50L exm525459 6 28971291 [A/G] NM_001010877 ZNF311 EXON Synonymous_S30S exm525478 6 29012067 [T/C] NM_001195202,NM_030903 LOC100129636,OR2W1 EXON Silent,Missense_D296N exm525479 6 29012093 [A/G] NM_001195202,NM_030903 LOC100129636,OR2W1 EXON Silent,Missense_P287L exm525493 6 29012541 [G/C] NM_001195202,NM_030903 LOC100129636,OR2W1 EXON Silent,Missense_P138A exm525498 6 29012712 [T/C] NM_001195202,NM_030903 LOC100129636,OR2W1 EXON Silent,Missense_M81V exm2266300 6 29045632 [A/G] exm525509 6 29054097 [A/G] NM_001005226 OR2B3 EXON Missense_F310S exm525528 6 29054714 [G/C] NM_001005226 OR2B3 EXON Missense_F104L exm525537 6 29054908 [A/G] NM_001005226 OR2B3 EXON Missense_F40L exm525538 6 29054914 [T/A] NM_001005226 OR2B3 EXON Missense_T38S exm525540 6 29054923 [A/G] NM_001005226 OR2B3 EXON Missense_Y35H exm525543 6 29054929 [T/C] NM_001005226 OR2B3 EXON Missense_I33V exm525548 6 29055003 [A/G] NM_001005226 OR2B3 EXON Missense_S8F exm525573 6 29079871 [A/C] NM_001005216 OR2J3 EXON Missense_N68K exm525583 6 29080041 [A/G] NM_001005216 OR2J3 EXON Missense_R125H exm525593 6 29080344 [A/G] NM_001005216 OR2J3 EXON Missense_R226Q exm525596 6 29080386 [T/C] NM_001005216 OR2J3 EXON Missense_V240A exm2257721 6 29080558 [T/C] NM_001005216 OR2J3 EXON Synonymous_N297N exm-rs3129109 6 29084232 [T/C] exm525613 6 29141422 [T/A] NM_030905 OR2J2 EXON Nonsense_K4X exm525630 6 29141732 [A/C] NM_030905 OR2J2 EXON Missense_A107E exm525631 6 29141743 [A/G] NM_030905 OR2J2 EXON Missense_T111A exm2257722 6 29141772 [A/G] NM_030905 OR2J2 EXON Synonymous_S120S exm525643 6 29142020 [T/C] NM_030905 OR2J2 EXON Missense_M203T exm525651 6 29142317 [T/C] NM_030905 OR2J2 EXON Missense_A302V exm-rs714470 6 29191411 [A/C] exm525691 6 29274486 [T/C] NM_030946 OR14J1 EXON Missense_M7T exm525695 6 29274537 [T/C] NM_030946 OR14J1 EXON Missense_L24S exm525706 6 29274933 [T/C] NM_030946 OR14J1 EXON Missense_M156T exm525711 6 29275029 [G/C] NM_030946 OR14J1 EXON Missense_S188C exm525719 6 29275260 [T/C] NM_030946 OR14J1 EXON Missense_S265L exm525722 6 29275298 [A/G] NM_030946 OR14J1 EXON Missense_V278M exm525726 6 29275380 [A/C] NM_030946 OR14J1 EXON Missense_K305T exm525734 6 29323114 [A/G] NM_030876 OR5V1 EXON Missense_P287S exm525738 6 29323210 [T/C] NM_030876 OR5V1 EXON Missense_A255T exm525742 6 29323245 [G/C] NM_030876 OR5V1 EXON Missense_S243C exm525743 6 29323251 [T/C] NM_030876 OR5V1 EXON Missense_C241Y exm525746 6 29323276 [T/C] NM_030876 OR5V1 EXON Missense_G233R exm525760 6 29323536 [A/G] NM_030876 OR5V1 EXON Missense_A146V exm525761 6 29323573 [T/C] NM_030876 OR5V1 EXON Missense_V134I exm525762 6 29323611 [T/C] NM_030876 OR5V1 EXON Missense_D121G exm525765 6 29323657 [A/C] NM_030876 OR5V1 EXON Missense_F106V exm525769 6 29323830 [A/G] NM_030876 OR5V1 EXON Missense_T48M exm525770 6 29323837 [T/C] NM_030876 OR5V1 EXON Missense_I46V exm525771 6 29323838 [A/C] NM_030876 OR5V1 EXON Missense_I45M exm525772 6 29323905 [A/C] NM_030876 OR5V1 EXON Missense_L23W exm-rs7772982 6 29341007 [T/C] exm525799 6 29342227 [T/C] NM_030959 OR12D3 EXON Missense_V280I exm525801 6 29342236 [A/G] NM_030959 OR12D3 EXON Missense_Y277H exm525803 6 29342359 [A/C] NM_030959 OR12D3 EXON Missense_A236S exm525817 6 29342631 [A/G] NM_030959 OR12D3 EXON Missense_A145V exm525819 6 29342650 [A/G] NM_030959 OR12D3 EXON Missense_C139R exm525820 6 29342653 [A/C] NM_030959 OR12D3 EXON Missense_V138L exm525822 6 29342775 [A/G] NM_030959 OR12D3 EXON Missense_T97I exm2243682 6 29342793 [G/C] NM_030959 OR12D3 EXON Missense_S91C exm-rs2144425 6 29344939 [A/G] exm-rs238872 6 29351873 [T/C] exm2266173 6 29352943 [A/G] exm-rs3094549 6 29355148 [A/C] exm-rs1419638 6 29355519 [T/C] exm-rs4711185 6 29356046 [A/G] exm-rs442694 6 29356687 [T/G] exm-rs1592404 6 29358676 [C/G] exm-rs9257819 6 29360183 [A/C] exm-rs2022077 6 29361124 [A/T] exm525837 6 29364508 [T/C] NM_013936 OR12D2 EXON Missense_L11P exm525839 6 29364555 [A/G] NM_013936 OR12D2 EXON Missense_V27M exm525841 6 29364615 [T/G] NM_013936 OR12D2 EXON Missense_V47F exm525845 6 29364643 [T/C] NM_013936 OR12D2 EXON Missense_L56P exm2274131 6 29364685 [A/G] NM_013936 OR12D2 EXON Missense_C70Y exm525851 6 29364729 [T/C] NM_013936 OR12D2 EXON Missense_S85P exm525852 6 29364787 [T/C] NM_013936 OR12D2 EXON Missense_S104F exm525853 6 29364815 [C/G] NM_013936 OR12D2 EXON Missense_F113L exm525854 6 29364835 [T/G] NM_013936 OR12D2 EXON Missense_L120R exm525856 6 29364871 [T/G] NM_013936 OR12D2 EXON Missense_V132G exm525859 6 29364951 [A/G] NM_013936 OR12D2 EXON Missense_V159I exm525860 6 29364971 [A/C] NM_013936 OR12D2 EXON Missense_N165K exm525875 6 29365198 [T/C] NM_013936 OR12D2 EXON Missense_A241V exm525876 6 29365200 [T/C] NM_013936 OR12D2 EXON Missense_S242P exm2119868 6 29365261 [A/C] NM_013936 OR12D2 EXON Missense_A262E exm525878 6 29365273 [T/C] NM_013936 OR12D2 EXON Missense_F266S exm525880 6 29365296 [A/G] NM_013936 OR12D2 EXON Missense_A274T exm525883 6 29365331 [A/C] NM_013936 OR12D2 EXON Missense_N285K exm-rs2073149 6 29365423 [A/T] NM_013936 OR12D2 EXON Silent exm-rs1028411 6 29367399 [T/G] exm-rs9405124 6 29368813 [A/G] exm-rs2394607 6 29369519 [T/C] exm-rs429479 6 29372323 [A/G] exm-rs1544403 6 29381906 [A/G] exm-rs720497 6 29382433 [C/G] exm-rs3131024 6 29385237 [T/C] exm-rs1011985 6 29385772 [C/G] exm-rs3094562 6 29388306 [A/G] exm-rs2523421 6 29390440 [A/G] exm-rs2074470 6 29394427 [A/G] NM_013937 OR11A1 EXON Silent exm525895 6 29394655 [A/G] NM_013937 OR11A1 EXON Missense_T255M exm525898 6 29394752 [G/C] NM_013937 OR11A1 EXON Missense_V223L exm525900 6 29394766 [T/G] NM_013937 OR11A1 EXON Missense_S218Y exm525906 6 29394926 [T/C] NM_013937 OR11A1 EXON Missense_A165T exm525908 6 29394949 [T/G] NM_013937 OR11A1 EXON Missense_D157A exm525913 6 29395057 [T/C] NM_013937 OR11A1 EXON Missense_Y121C exm525923 6 29395180 [A/G] NM_013937 OR11A1 EXON Missense_M80T exm525930 6 29395413 [T/G] NM_013937 OR11A1 EXON Missense_E2D exm-rs7770592 6 29395747 [A/C] exm-rs7757269 6 29396217 [T/C] exm-rs9468532 6 29407378 [T/C] exm525934 6 29407800 [A/C] NM_013941 OR10C1 EXON Missense_A3E exm525938 6 29407893 [A/G] NM_013941 OR10C1 EXON Missense_Y34C exm525941 6 29407955 [T/C] NM_013941 OR10C1 EXON Nonsense_Q55X exm525942 6 29407961 [T/C] NM_013941 OR10C1 EXON Missense_P57S exm525943 6 29407970 [T/C] NM_013941 OR10C1 EXON Missense_F60L exm525949 6 29408055 [A/G] NM_013941 OR10C1 EXON Missense_R88Q exm525952 6 29408090 [A/G] NM_013941 OR10C1 EXON Missense_M100V exm525953 6 29408153 [T/C] NM_013941 OR10C1 EXON Missense_R121C exm525955 6 29408204 [T/C] NM_013941 OR10C1 EXON Missense_R138W exm-rs2074467 6 29408275 [A/C] NM_013941 OR10C1 EXON Missense_F161L exm525964 6 29408397 [T/C] NM_013941 OR10C1 EXON Missense_T202I exm525970 6 29408489 [A/C] NM_013941 OR10C1 EXON Missense_R233S exm525978 6 29408555 [A/C] NM_013941 OR10C1 EXON Missense_L255I exm525979 6 29408571 [T/G] NM_013941 OR10C1 EXON Missense_R260L exm525982 6 29408592 [T/C] NM_013941 OR10C1 EXON Missense_P267L exm525983 6 29408600 [T/G] NM_013941 OR10C1 EXON Missense_D270Y exm525984 6 29408603 [A/C] NM_013941 OR10C1 EXON Missense_P271T exm525985 6 29408618 [T/A] NM_013941 OR10C1 EXON Missense_F276I exm525988 6 29408649 [G/C] NM_013941 OR10C1 EXON Missense_P286R exm525990 6 29408717 [A/C] NM_013941 OR10C1 EXON Missense_P309T exm525992 6 29408721 [T/G] NM_013941 OR10C1 EXON Missense_M310R exm-rs7765791 6 29410093 [T/C] exm-rs2523442 6 29417817 [T/C] exm-rs3094574 6 29422092 [A/G] exm-rs9257863 6 29425584 [T/G] exm-rs6456951 6 29426203 [A/T] exm-rs7768854 6 29428831 [T/G] NM_030883 OR2H1 Silent exm525996 6 29429617 [G/C] NM_030883 OR2H1 EXON Missense_T24S exm526001 6 29429717 [A/G] NM_030883 OR2H1 EXON Missense_M57I exm526005 6 29429785 [T/C] NM_030883 OR2H1 EXON Missense_L80P exm526013 6 29429993 [A/G] NM_030883 OR2H1 EXON Missense_M149I exm526019 6 29430121 [A/C] NM_030883 OR2H1 EXON Missense_Y192S exm526022 6 29430166 [T/C] NM_030883 OR2H1 EXON Missense_V207A exm526025 6 29430213 [A/G] NM_030883 OR2H1 EXON Missense_V223M exm526027 6 29430334 [T/C] NM_030883 OR2H1 EXON Missense_P263L exm526031 6 29430349 [A/G] NM_030883 OR2H1 EXON Missense_R268K exm526033 6 29430388 [G/C] NM_030883 OR2H1 EXON Missense_P281R exm2119898 6 29430431 [A/G] NM_030883 OR2H1 EXON Missense_I295M exm526036 6 29430454 [T/G] NM_030883 OR2H1 EXON Missense_L303R exm-rs3128854 6 29431698 [A/G] NM_030883 OR2H1 EXON Silent exm-rs1345228 6 29432390 [A/G] exm-rs2107191 6 29434295 [T/C] exm-rs2746149 6 29435355 [T/C] exm-rs11961170 6 29439105 [A/T] exm-rs7751705 6 29441618 [T/C] exm-rs2746150 6 29442701 [T/C] exm-rs1233495 6 29444121 [A/G] exm-rs3094573 6 29446632 [T/G] exm-rs7771335 6 29448038 [A/G] exm-rs10484547 6 29452774 [C/G] exm-rs2066951 6 29454489 [T/G] exm526046 6 29454557 [T/C] NM_052967 MAS1L EXON Missense_D375N exm526054 6 29454676 [A/C] NM_052967 MAS1L EXON Missense_R335L exm526059 6 29454748 [A/G] NM_052967 MAS1L EXON Missense_P311L exm526060 6 29454755 [T/C] NM_052967 MAS1L EXON Missense_A309T exm526062 6 29454769 [A/G] NM_052967 MAS1L EXON Missense_I304T exm526064 6 29454836 [T/C] NM_052967 MAS1L EXON Missense_V282M exm526066 6 29454889 [A/G] NM_052967 MAS1L EXON Missense_A264V exm526069 6 29454928 [A/G] NM_052967 MAS1L EXON Missense_L251P exm526070 6 29454951 [A/T] NM_052967 MAS1L EXON Missense_S243R exm526073 6 29455032 [T/C] NM_052967 MAS1L EXON Synonymous_K216K exm2257724 6 29455032 [T/C] NM_052967 MAS1L EXON Synonymous_K216K exm526076 6 29455091 [T/C] NM_052967 MAS1L EXON Missense_I197V exm-IND6-29563134 6 29455156 [I/D] NM_052967 MAS1L EXON exm526081 6 29455208 [T/C] NM_052967 MAS1L EXON Missense_E158K exm526087 6 29455355 [A/T] NM_052967 MAS1L EXON Missense_M109L exm526088 6 29455357 [T/C] NM_052967 MAS1L EXON Missense_Y108C exm526092 6 29455505 [T/G] NM_052967 MAS1L EXON Missense_T59P exm526094 6 29455513 [A/G] NM_052967 MAS1L EXON Missense_T56M exm-rs9348832 6 29456021 [A/G] exm-rs11756938 6 29456654 [T/C] exm-rs1233493 6 29458241 [A/G] exm-rs1233492 6 29458477 [A/G] exm-rs3128844 6 29459260 [C/G] exm-rs1233490 6 29461914 [A/G] exm-rs9257870 6 29464966 [T/C] exm-rs2746147 6 29466608 [A/G] exm-rs1233487 6 29468809 [A/G] exm-rs3131019 6 29470985 [A/C] exm-rs11961013 6 29471934 [T/C] exm-rs3130858 6 29473501 [A/C] exm-rs734960 6 29475142 [T/C] exm-rs1233482 6 29475682 [A/C] exm-rs3131020 6 29475902 [T/C] exm-rs1233478 6 29477821 [T/G] exm-rs3094572 6 29480993 [T/C] exm-rs1592410 6 29483968 [T/C] exm-rs9257890 6 29486908 [T/C] exm-rs2745400 6 29488249 [A/G] exm-rs724078 6 29489048 [A/G] exm-rs7752486 6 29492563 [A/C] exm-rs969931 6 29494897 [T/G] exm-rs1233427 6 29496664 [T/C] exm-rs1233426 6 29498102 [T/C] NR_037180,NR_037179,NR_037181 LOC100507362,LOC100507362,LOC100507362 Silent,Silent,Silent exm-rs1233425 6 29498497 [G/C] NR_037180,NR_037179,NR_037181 LOC100507362,LOC100507362,LOC100507362 Silent,Silent,Silent exm-rs362546 6 29499416 [T/C] NR_037180,NR_037179,NR_037181 LOC100507362,LOC100507362,LOC100507362 EXON Silent,Silent,Silent exm-rs886381 6 29500225 [T/C] NR_037180,NR_037179,NR_037181 LOC100507362,LOC100507362,LOC100507362 EXON Silent,Silent,Silent exm-rs9968 6 29501037 [G/C] NR_037180,NR_037179,NR_037181 LOC100507362,LOC100507362,LOC100507362 EXON Silent,Silent,Silent exm-rs2294748 6 29501182 [A/G] NR_037180,NR_037179,NR_037181 LOC100507362,LOC100507362,LOC100507362 EXON Silent,Silent,Silent exm-rs1233421 6 29501514 [A/C] exm-rs419957 6 29505769 [G/C] exm-rs414282 6 29506260 [T/C] exm-rs10484548 6 29508273 [T/C] exm-rs362540 6 29510325 [A/G] exm-rs407161 6 29513807 [A/G] exm-rs3094576 6 29516242 [A/C] exm-rs365488 6 29517958 [A/G] exm-rs2745411 6 29518442 [A/G] exm-rs453658 6 29519848 [A/G] exm-rs389419 6 29521445 [T/C] exm526101 6 29523670 [A/C] NM_006398 UBD EXON Missense_C162F exm526102 6 29523676 [C/G] NM_006398 UBD EXON Missense_C160S exm526105 6 29523787 [A/G] NM_006398 UBD EXON Missense_T123M exm526106 6 29523797 [T/C] NM_006398 UBD EXON Missense_E120K exm526110 6 29523859 [C/G] NM_006398 UBD EXON Missense_A99G exm526112 6 29523872 [A/G] NM_006398 UBD EXON Missense_S95P exm526116 6 29523952 [A/G] NM_006398 UBD EXON Missense_I68T exm526121 6 29524003 [A/G] NM_006398 UBD EXON Missense_L51S exm-rs362536 6 29526940 [T/C] NM_006398 UBD Silent exm-rs64036 6 29527267 [A/C] NM_006398 UBD Silent exm2270461 6 29527599 [T/C] NM_006398 UBD EXON Silent exm-rs362513 6 29528318 [A/G] exm-rs995185 6 29529137 [T/A] exm-rs362527 6 29531818 [A/G] exm-rs2523447 6 29532739 [A/G] exm-rs3094577 6 29533870 [A/G] exm-rs1119080 6 29536685 [A/G] exm-rs1235162 6 29537224 [A/G] exm-rs1003582 6 29538403 [C/G] exm-rs1233399 6 29539482 [A/G] exm-rs1003581 6 29540204 [A/G] exm-rs6912437 6 29541394 [A/G] exm-rs362525 6 29543646 [T/G] exm-rs362522 6 29545208 [T/C] exm-rs1233397 6 29545715 [A/G] exm-rs926552 6 29548089 [A/G] exm-rs1233389 6 29552483 [T/G] exm-rs1233388 6 29553727 [A/G] exm526136 6 29555738 [A/C] NM_007160 OR2H2 EXON Missense_S6Y exm-rs1233387 6 29555864 [T/C] NM_007160 OR2H2 EXON Missense_A48V exm526155 6 29556100 [T/C] NM_007160 OR2H2 EXON Missense_P127S exm526168 6 29556323 [G/C] NM_007160 OR2H2 EXON Missense_S201T exm526176 6 29556416 [A/G] NM_007160 OR2H2 EXON Missense_R232Q exm-rs1233386 6 29558190 [T/C] exm-rs1233384 6 29559295 [T/C] exm-rs6912589 6 29561850 [A/G] exm-rs3095273 6 29566369 [A/G] exm-rs362517 6 29569045 [A/G] exm-rs3025643 6 29569955 [A/G] exm-rs2267633 6 29570841 [A/G] NM_021904,NM_001470,NM_021903 GABBR1,GABBR1,GABBR1 EXON Silent,Silent,Silent exm526191 6 29571342 [T/C] NM_021904,NM_001470,NM_021903 GABBR1,GABBR1,GABBR1 EXON Missense_R893Q,Missense_R955Q,Missense_R838Q exm-rs10946999 6 29571609 [T/G] NM_021904,NM_001470,NM_021903 GABBR1,GABBR1,GABBR1 Silent,Silent,Silent exm526225 6 29576407 [T/C] NM_021904,NM_001470,NM_021903 GABBR1,GABBR1,GABBR1 EXON Missense_G593R,Missense_G655R,Missense_G538R exm-rs2076489 6 29576437 [A/G] NM_021904,NM_001470,NM_021903 GABBR1,GABBR1,GABBR1 EXON Missense_F583L,Missense_F645L,Missense_F528L exm-rs29258 6 29577617 [T/C] NM_021904,NM_001470,NM_021903 GABBR1,GABBR1,GABBR1 Silent,Silent,Silent exm526232 6 29578753 [T/G] NM_021904,NM_001470,NM_021903 GABBR1,GABBR1,GABBR1 EXON Nonsense_Y490X,Nonsense_Y552X,Nonsense_Y435X exm-rs29255 6 29579544 [A/C] NM_021904,NM_001470,NM_021903 GABBR1,GABBR1,GABBR1 Silent,Silent,Silent exm526245 6 29581121 [T/C] NM_021904,NM_001470,NM_021903 GABBR1,GABBR1,GABBR1 EXON Missense_G427S,Missense_G489S,Missense_G372S exm-rs29220 6 29589666 [C/G] NM_021904,NM_001470,NM_021903 GABBR1,GABBR1,GABBR1 Silent,Silent,Silent exm-rs3828923 6 29590715 [T/C] NM_021904,NM_001470,NM_021903 GABBR1,GABBR1,GABBR1 Silent,Silent,Silent exm2257726 6 29591100 [C/G] NM_021904,NM_001470,NM_021903 GABBR1,GABBR1,GABBR1 EXON Synonymous_T253T,Synonymous_T315T,Synonymous_T198T exm-rs2021749 6 29598119 [A/G] NM_021904,NM_001470 GABBR1,GABBR1 Silent,Silent exm526267 6 29598286 [A/G] NM_021904,NM_001470 GABBR1,GABBR1 EXON Silent,Missense_R142W exm-rs29243 6 29599102 [A/G] NM_021904,NM_001470 GABBR1,GABBR1 Silent,Silent exm526285 6 29600104 [A/G] NM_021904,NM_001470 GABBR1,GABBR1 EXON Missense_A20V,Missense_A20V exm-rs3025623 6 29607747 [A/G] exm-rs1233374 6 29608694 [T/C] exm-rs29233 6 29611229 [G/C] exm-rs29232 6 29611431 [T/C] exm-rs3131854 6 29611885 [T/C] exm-rs3129073 6 29615822 [A/G] exm-rs439812 6 29616607 [T/C] exm-rs29269 6 29617747 [T/C] exm-rs29272 6 29618366 [T/G] exm-rs3025620 6 29621886 [T/C] exm-rs29234 6 29624112 [A/C] exm-rs3130250 6 29625001 [A/G] NM_001170418,NM_206814,NM_206811,NM_002433,NM_001008229,NM_001008228,NM_206812,NM_206809,NM_206810 MOG,MOG,MOG,MOG,MOG,MOG,MOG,MOG,MOG EXON Synonymous_S5S,Synonymous_S5S,Synonymous_S5S,Synonymous_S5S,Synonymous_S5S,Synonymous_S5S,Synonymous_S5S,Synonymous_S5S,Synonymous_S5S exm-rs2252711 6 29626321 [T/C] NM_001170418,NM_206814,NM_206811,NM_002433,NM_001008229,NM_001008228,NM_206812,NM_206809,NM_206810 MOG,MOG,MOG,MOG,MOG,MOG,MOG,MOG,MOG Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm526299 6 29627170 [A/G] NM_001170418,NM_206814,NM_206811,NM_002433,NM_001008229,NM_001008228,NM_206812,NM_206809,NM_206810 MOG,MOG,MOG,MOG,MOG,MOG,MOG,MOG,MOG EXON Silent,Silent,Missense_I55V,Missense_I55V,Missense_I55V,Missense_I55V,Missense_I55V,Missense_I55V,Missense_I55V exm526302 6 29627218 [C/G] NM_001170418,NM_206814,NM_206811,NM_002433,NM_001008229,NM_001008228,NM_206812,NM_206809,NM_206810 MOG,MOG,MOG,MOG,MOG,MOG,MOG,MOG,MOG EXON Silent,Silent,Missense_P71A,Missense_P71A,Missense_P71A,Missense_P71A,Missense_P71A,Missense_P71A,Missense_P71A exm526304 6 29627222 [A/C] NM_001170418,NM_206814,NM_206811,NM_002433,NM_001008229,NM_001008228,NM_206812,NM_206809,NM_206810 MOG,MOG,MOG,MOG,MOG,MOG,MOG,MOG,MOG EXON Silent,Silent,Missense_P72H,Missense_P72H,Missense_P72H,Missense_P72H,Missense_P72H,Missense_P72H,Missense_P72H exm526313 6 29627350 [T/C] NM_001170418,NM_206814,NM_206811,NM_002433,NM_001008229,NM_001008228,NM_206812,NM_206809,NM_206810 MOG,MOG,MOG,MOG,MOG,MOG,MOG,MOG,MOG EXON Silent,Silent,Missense_R115W,Missense_R115W,Missense_R115W,Missense_R115W,Missense_R115W,Missense_R115W,Missense_R115W exm-rs2535260 6 29628883 [G/C] NM_001170418,NM_206814,NM_206811,NM_002433,NM_001008229,NM_001008228,NM_206812,NM_206809,NM_206810 MOG,MOG,MOG,MOG,MOG,MOG,MOG,MOG,MOG Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm-rs2256266 6 29632318 [T/C] NM_001170418,NM_206814,NM_206811,NM_002433,NM_001008229,NM_001008228,NM_206812,NM_206809,NM_206810 MOG,MOG,MOG,MOG,MOG,MOG,MOG,MOG,MOG Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm-rs6905408 6 29633775 [T/C] NM_001170418,NM_206814,NM_206811,NM_002433,NM_001008229,NM_001008228,NM_206812,NM_206809,NM_206810 MOG,MOG,MOG,MOG,MOG,MOG,MOG,MOG,MOG Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm526328 6 29634003 [G/C] NM_001170418,NM_206814,NM_206811,NM_002433,NM_001008229,NM_001008228,NM_206812,NM_206809,NM_206810 MOG,MOG,MOG,MOG,MOG,MOG,MOG,MOG,MOG EXON Missense_V55L,Missense_V55L,Missense_V171L,Missense_V171L,Missense_V171L,Missense_V171L,Missense_V171L,Missense_V171L,Missense_V171L exm526329 6 29634012 [A/G] NM_001170418,NM_206814,NM_206811,NM_002433,NM_001008229,NM_001008228,NM_206812,NM_206809,NM_206810 MOG,MOG,MOG,MOG,MOG,MOG,MOG,MOG,MOG EXON Missense_I58V,Missense_I58V,Missense_I174V,Missense_I174V,Missense_I174V,Missense_I174V,Missense_I174V,Missense_I174V,Missense_I174V exm-rs2071653 6 29635928 [T/C] NM_001170418,NM_206814,NM_206811,NM_002433,NM_001008229,NM_001008228,NM_206812,NM_206809,NM_206810 MOG,MOG,MOG,MOG,MOG,MOG,MOG,MOG,MOG Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm526335 6 29637986 [T/C] NM_001170418,NM_206814,NM_206811,NM_002433,NM_001008229,NM_001008228,NM_206812,NM_206809,NM_206810 MOG,MOG,MOG,MOG,MOG,MOG,MOG,MOG,MOG EXON Missense_P94S,Silent,Missense_P210S,Silent,Silent,Missense_P210S,Silent,Silent,Silent exm526337 6 29638105 [A/G] NM_001170418,NM_206814,NM_206811,NM_002433,NM_001008229,NM_001008228,NM_206812,NM_206809,NM_206810 MOG,MOG,MOG,MOG,MOG,MOG,MOG,MOG,MOG EXON Silent,Missense_I98V,Silent,Missense_I214V,Silent,Silent,Silent,Missense_I214V,Silent exm-rs926828 6 29638425 [A/G] NM_001170418,NM_206814,NM_206811,NM_002433,NM_001008229,NM_001008228,NM_206812,NM_206809,NM_206810 MOG,MOG,MOG,MOG,MOG,MOG,MOG,MOG,MOG Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm-IND6-29746494 6 29638516 [D/I] NM_001170418,NM_206814,NM_206811,NM_002433,NM_001008229,NM_001008228,NM_206812,NM_206809,NM_206810 MOG,MOG,MOG,MOG,MOG,MOG,MOG,MOG,MOG exm526351 6 29640284 [T/C] NM_001109809 ZFP57 EXON Missense_H535R exm526355 6 29640416 [C/G] NM_001109809 ZFP57 EXON Missense_T491S exm526358 6 29640462 [A/G] NM_001109809 ZFP57 EXON Missense_R476W exm526368 6 29640785 [A/T] NM_001109809 ZFP57 EXON Missense_D368V exm526371 6 29640855 [C/G] NM_001109809 ZFP57 EXON Missense_A345P exm526375 6 29640951 [T/C] NM_001109809 ZFP57 EXON Missense_R313G exm2243686 6 29641082 [T/C] NM_001109809 ZFP57 EXON Missense_R269Q exm526382 6 29641139 [T/C] NM_001109809 ZFP57 EXON Missense_R250H exm526392 6 29641295 [T/C] NM_001109809 ZFP57 EXON Missense_N198S exm526395 6 29641329 [A/G] NM_001109809 ZFP57 EXON Missense_R187C exm526396 6 29641356 [A/G] NM_001109809 ZFP57 EXON Missense_Y178H exm526398 6 29641397 [T/C] NM_001109809 ZFP57 EXON Missense_R164Q exm526400 6 29641413 [A/T] NM_001109809 ZFP57 EXON Missense_T159S exm526404 6 29641514 [T/C] NM_001109809 ZFP57 EXON Missense_R125Q exm-rs2747419 6 29642194 [T/G] NM_001109809 ZFP57 Silent exm526419 6 29644668 [T/C] NM_001109809 ZFP57 EXON Missense_R38Q exm526420 6 29644669 [A/G] NM_001109809 ZFP57 EXON Missense_R38W exm-rs396660 6 29646165 [T/C] exm-rs3870968 6 29647149 [T/G] exm-rs3129051 6 29650122 [A/T] exm-rs3117292 6 29652199 [A/G] exm-rs3117294 6 29653329 [T/G] exm-rs3117299 6 29653957 [A/C] exm-rs2747454 6 29655113 [A/G] exm-rs2747457 6 29656417 [T/G] exm-rs2894113 6 29661456 [A/T] exm-rs3129029 6 29662443 [T/G] exm-rs3131888 6 29663889 [T/C] exm-rs3131886 6 29664452 [T/C] exm-rs3131875 6 29666111 [T/C] exm-rs9258102 6 29668913 [T/C] exm-rs2107203 6 29669830 [A/G] exm-rs3129055 6 29670261 [A/G] exm-rs3131865 6 29672165 [G/C] exm-rs3094727 6 29672529 [T/C] exm-rs3094724 6 29674295 [A/G] exm-rs7762253 6 29676823 [T/C] exm-rs2524272 6 29682400 [A/G] exm-rs1632962 6 29683808 [A/G] exm-rs2517912 6 29683944 [T/C] exm-rs2517911 6 29684634 [T/C] exm-rs7759272 6 29684994 [T/C] exm-rs9258157 6 29688099 [T/A] exm-rs3998799 6 29690694 [C/G] exm526424 6 29691278 [T/C] NM_001098479,NM_001098478,NM_018950 HLA-F,HLA-F,HLA-F EXON Missense_A13V,Missense_A13V,Missense_A13V exm526425 6 29691303 [A/G] NM_001098479,NM_001098478,NM_018950 HLA-F,HLA-F,HLA-F EXON Synonymous_A21A,Synonymous_A21A,Synonymous_A21A exm526434 6 29691582 [A/C] NM_001098479,NM_001098478,NM_018950 HLA-F,HLA-F,HLA-F EXON Missense_P71Q,Missense_P71Q,Missense_P71Q exm-rs1736926 6 29692562 [A/G] NM_001098479,NM_001098478,NM_018950 HLA-F,HLA-F,HLA-F Silent,Silent,Silent exm526451 6 29692810 [A/C] NM_001098479,NM_001098478,NM_018950 HLA-F,HLA-F,HLA-F EXON Missense_P205T,Silent,Missense_P205T exm-rs1736922 6 29693969 [T/C] NM_001098479,NM_001098478,NM_018950 HLA-F,HLA-F,HLA-F Silent,Silent,Silent exm526477 6 29694680 [A/C] NM_001098479,NR_026973,NR_026972 HLA-F,HLA-F-AS1,HLA-F-AS1 EXON Missense_N353H,Silent,Silent exm-rs1628578 6 29695502 [A/C] NR_026973,NR_026972 HLA-F-AS1,HLA-F-AS1 Silent,Silent exm-rs2272874 6 29696245 [T/C] NR_026973,NR_026972 HLA-F-AS1,HLA-F-AS1 EXON Silent,Silent exm-rs1611350 6 29698821 [T/C] NR_026973,NR_026972 HLA-F-AS1,HLA-F-AS1 Silent,Silent exm-rs1610601 6 29700183 [A/C] NR_026973,NR_026972 HLA-F-AS1,HLA-F-AS1 Silent,Silent exm-rs2735052 6 29701564 [A/G] NR_026973,NR_026972 HLA-F-AS1,HLA-F-AS1 Silent,Silent exm-rs9258208 6 29704545 [T/C] NR_026973,NR_026972 HLA-F-AS1,HLA-F-AS1 Silent,Silent exm-rs2523393 6 29705659 [A/G] NR_026973,NR_026972 HLA-F-AS1,HLA-F-AS1 Silent,Silent exm-rs2743951 6 29709234 [T/C] NR_026973,NR_026972 HLA-F-AS1,HLA-F-AS1 Silent,Silent exm-rs730858 6 29710628 [A/G] NR_026973,NR_026972 HLA-F-AS1,HLA-F-AS1 Silent,Silent exm-rs4713240 6 29710726 [A/G] NR_026973,NR_026972 HLA-F-AS1,HLA-F-AS1 Silent,Silent exm-rs1610613 6 29710963 [T/C] NR_026973,NR_026972 HLA-F-AS1,HLA-F-AS1 Silent,Silent exm-rs2844846 6 29712036 [T/A] NR_026973,NR_026972 HLA-F-AS1,HLA-F-AS1 Silent,Silent exm-rs2844845 6 29712759 [A/T] NR_026973,NR_026972 HLA-F-AS1,HLA-F-AS1 Silent,Silent exm-rs2072894 6 29713036 [T/C] NR_026973,NR_026972 HLA-F-AS1,HLA-F-AS1 Silent,Silent exm-rs1737086 6 29714413 [A/C] NR_026973,NR_026972 HLA-F-AS1,HLA-F-AS1 Silent,Silent exm-rs6901686 6 29715721 [A/G] NR_026973,NR_026972 HLA-F-AS1,HLA-F-AS1 Silent,Silent exm-rs733841 6 29717980 [T/C] exm-rs1610735 6 29718519 [T/G] exm-rs909728 6 29719561 [T/C] exm-rs4713243 6 29720961 [C/G] exm-rs9391630 6 29722515 [A/G] exm-rs1737079 6 29724745 [A/G] exm-rs1633059 6 29726550 [T/C] exm-rs1610628 6 29728209 [A/C] exm-rs1737069 6 29730730 [T/C] exm-rs1625636 6 29732302 [T/C] exm-rs422343 6 29732430 [A/G] exm2270303 6 29732590 [T/C] exm-rs1633041 6 29733223 [A/G] exm-rs1737049 6 29735104 [A/G] exm-rs1737046 6 29735693 [A/G] exm-rs1737043 6 29736047 [T/C] exm-rs1610634 6 29738454 [T/C] exm-rs1362068 6 29742108 [T/C] exm-rs1362070 6 29742299 [T/C] exm-rs1633036 6 29742809 [T/C] exm-rs1633034 6 29743563 [A/G] exm-rs4122198 6 29745593 [T/C] exm-rs1615962 6 29745726 [A/G] exm-rs1633030 6 29745794 [T/C] exm-rs1614309 6 29745884 [A/G] exm-rs1633021 6 29746869 [T/C] exm-rs9258384 6 29753868 [A/C] exm-rs2743941 6 29755451 [T/C] exm-rs1611196 6 29757995 [T/C] exm-rs1610640 6 29758525 [T/C] exm2274132 6 29759876 [A/G] NR_002139,NM_001207043 HCG4,LOC554223 EXON Silent,Missense_G31D exm2274133 6 29759885 [A/G] NR_002139,NM_001207043 HCG4,LOC554223 EXON Silent,Missense_R34Q exm2274134 6 29759923 [T/C] NR_002139,NM_001207043 HCG4,LOC554223 EXON Silent,Missense_S47P exm2274136 6 29760029 [G/C] NR_002139,NM_001207043 HCG4,LOC554223 EXON Silent,Missense_R82P exm2274137 6 29760462 [T/C] NR_002139,NM_001207043 HCG4,LOC554223 EXON Silent,Missense_Y183H exm-rs1610647 6 29762068 [T/C] NM_001207043 LOC554223 Silent exm-rs1633009 6 29763087 [T/A] NM_001207043 LOC554223 Silent exm-rs1633005 6 29764472 [T/C] NM_001207043 LOC554223 Silent exm-rs1736998 6 29765716 [A/T] exm-rs1736991 6 29766926 [C/G] exm-rs7741100 6 29768123 [A/C] exm-rs1611185 6 29768344 [T/C] exm-rs9468626 6 29769246 [A/G] exm-rs1632996 6 29769507 [A/T] exm-rs9500989 6 29770158 [C/G] exm-rs1736981 6 29770322 [A/G] exm-rs1632988 6 29772395 [A/G] exm-rs1632987 6 29772549 [C/G] exm-rs2394173 6 29773158 [T/C] exm-rs1632984 6 29773392 [T/A] exm-rs1632983 6 29773509 [T/C] exm-rs2523409 6 29775662 [A/G] exm-rs2523408 6 29778109 [A/C] exm-rs1610669 6 29780093 [A/T] exm-rs1736959 6 29782470 [T/C] exm-rs1633105 6 29783382 [A/G] exm-rs1619379 6 29785235 [T/C] exm-rs1736951 6 29785776 [T/C] exm-rs1633017 6 29788770 [T/C] exm-rs1610677 6 29789171 [T/C] exm-rs1610678 6 29789190 [T/C] exm-rs1736936 6 29794317 [A/G] exm526510 6 29795623 [T/C] NM_002127 HLA-G EXON Missense_M1T exm526543 6 29796347 [A/G] NM_002127 HLA-G EXON Missense_G124D exm526551 6 29796376 [A/C] NM_002127 HLA-G EXON Missense_L134I exm526563 6 29796523 [T/C] NM_002127 HLA-G EXON Missense_Y183H exm-rs1632942 6 29796640 [T/C] NM_002127 HLA-G Silent exm526598 6 29797591 [A/G] NM_002127 HLA-G Silent exm-rs2517896 6 29800142 [T/C] exm-rs2735018 6 29804409 [C/G] exm-rs2394180 6 29805199 [T/C] exm-rs2735014 6 29805809 [A/C] exm-rs1611133 6 29809382 [T/C] exm-rs2734990 6 29812505 [T/A] exm-rs13201313 6 29813829 [T/G] exm-rs2394186 6 29816421 [A/G] exm-rs2523765 6 29817106 [T/A] exm-rs2734985 6 29818662 [T/C] exm-rs2523756 6 29820717 [A/G] exm-rs2517862 6 29821937 [T/C] exm-rs2517840 6 29826092 [T/C] exm-rs1611699 6 29827753 [T/A] exm-rs2523822 6 29828660 [A/G] exm-rs1611732 6 29831008 [T/C] exm-rs2508046 6 29833033 [T/C] exm-rs3094165 6 29833541 [A/G] exm-rs2734971 6 29834449 [A/G] exm-rs3094161 6 29835073 [A/G] exm-rs1611635 6 29836463 [T/C] exm-rs886398 6 29839268 [T/C] exm-rs3132708 6 29841636 [A/G] exm-rs2523809 6 29849619 [T/G] exm-rs2523807 6 29850274 [A/G] exm-rs7768484 6 29855978 [T/G] NR_001434 HLA-H EXON Silent exm-rs2524005 6 29899677 [A/G] exm-rs2734905 6 29904929 [A/C] exm-rs2860580 6 29906691 [A/G] exm526691 6 29910750 [T/C] NM_002116,NM_001242758 HLA-A,HLA-A EXON Missense_T97I,Missense_T97I exm2275857 6 29910759 [A/T] NM_002116,NM_001242758 HLA-A,HLA-A EXON Missense_V100E,Missense_V100E exm526889 6 29912836 [T/A] NM_002116,NM_001242758 HLA-A,HLA-A EXON Missense_D338V,Missense_D338V exm-rs3823339 6 29912968 [G/C] NM_002116,NM_001242758 HLA-A,HLA-A Silent,Silent exm-rs1061235 6 29913298 [T/A] NM_002116,NM_001242758 HLA-A,HLA-A EXON Silent,Silent exm-rs2499 6 29913542 [T/G] NM_002116,NM_001242758 HLA-A,HLA-A EXON Silent,Silent exm-rs2517723 6 29915268 [T/C] exm-rs7745413 6 29915469 [T/C] exm-rs1632880 6 29917610 [C/G] exm-rs2517713 6 29918099 [T/G] exm-rs3893538 6 29924425 [T/C] exm-rs892666 6 29924728 [T/C] exm-rs2523942 6 29925086 [T/G] exm-rs2517701 6 29925972 [T/A] exm-rs2523937 6 29927221 [G/C] exm-rs2571400 6 29927722 [C/G] exm-rs2517689 6 29929253 [T/C] exm-rs7739434 6 29930619 [A/G] exm-rs2571402 6 29932380 [T/A] exm-rs3873283 6 29933000 [A/G] exm-rs6457110 6 29933881 [T/A] exm-rs3893259 6 29934454 [A/G] exm-rs3893464 6 29935250 [A/G] exm-rs4959037 6 29936307 [T/A] exm-rs2517673 6 29937242 [A/G] exm-rs2256543 6 29937833 [T/C] exm-rs2735079 6 29938932 [T/C] exm-rs2523962 6 29939544 [A/G] exm-rs435766 6 29939852 [A/G] exm-rs2256902 6 29940372 [A/G] exm-rs400488 6 29943035 [A/G] NR_028032 HCG9 EXON Silent exm-rs6904029 6 29943067 [A/G] NR_028032 HCG9 EXON Silent exm-rs2245961 6 29944004 [A/C] NR_028032 HCG9 Silent exm-rs3132685 6 29945949 [A/G] NR_028032 HCG9 Silent exm-rs2844802 6 29948812 [T/A] exm-rs423808 6 29949123 [T/G] exm-rs2246638 6 29949497 [A/G] exm-rs2394255 6 29949821 [A/G] exm-rs379221 6 29950140 [A/G] exm-rs2735067 6 29951106 [A/G] exm-rs4947244 6 29954364 [C/G] exm-rs5025708 6 29955199 [T/G] exm-rs9260934 6 29957982 [A/G] exm-rs9260988 6 29962515 [T/C] exm-rs6457121 6 29963065 [A/G] exm-rs6923856 6 29967529 [T/C] exm-rs7758512 6 29970589 [T/G] NR_026751 ZNRD1-AS1 Silent exm-rs6905157 6 29971548 [A/G] NR_026751 ZNRD1-AS1 Silent exm-rs2240619 6 29975453 [A/C] NR_026751,NR_024240 ZNRD1-AS1,HLA-J Silent,Silent exm-rs356969 6 29977145 [G/C] NR_026751,NR_024240 ZNRD1-AS1,HLA-J Silent,Silent exm-rs356971 6 29979797 [T/G] NR_026751 ZNRD1-AS1 Silent exm-rs9261136 6 29981427 [T/C] NR_026751 ZNRD1-AS1 Silent exm-rs6457126 6 29983039 [T/C] NR_026751 ZNRD1-AS1 Silent exm-rs356954 6 29983538 [T/C] NR_026751 ZNRD1-AS1 Silent exm-rs6926792 6 29985849 [A/G] NR_026751 ZNRD1-AS1 Silent exm-rs4711206 6 29987184 [A/G] NR_026751 ZNRD1-AS1 Silent exm-rs3891157 6 29988439 [T/G] NR_026751 ZNRD1-AS1 Silent exm-rs3129012 6 29988642 [A/G] NR_026751 ZNRD1-AS1 Silent exm-rs165255 6 29989695 [G/C] NR_026751 ZNRD1-AS1 Silent exm-rs6919617 6 29991699 [A/G] NR_026751 ZNRD1-AS1 Silent exm-rs166325 6 29993196 [C/G] NR_026751 ZNRD1-AS1 Silent exm-rs10947046 6 30000973 [T/G] NR_026751 ZNRD1-AS1 Silent exm-rs3121593 6 30002793 [G/C] NR_026751 ZNRD1-AS1 EXON Silent exm-rs166327 6 30002881 [T/C] NR_026751 ZNRD1-AS1 EXON Silent exm-rs3869068 6 30004052 [T/C] NR_026751 ZNRD1-AS1 Silent exm-rs259937 6 30007493 [T/C] NR_026751 ZNRD1-AS1 Silent exm-rs259938 6 30008003 [G/C] NR_026751 ZNRD1-AS1 Silent exm-rs3910312 6 30008746 [A/C] NR_026751 ZNRD1-AS1 Silent exm-rs9380150 6 30010492 [T/C] NR_026751 ZNRD1-AS1 Silent exm-rs259940 6 30011934 [A/G] NR_026751 ZNRD1-AS1 Silent exm-rs259943 6 30015330 [T/C] NR_026751 ZNRD1-AS1 Silent exm-rs3134879 6 30015905 [T/C] NR_026751 ZNRD1-AS1 Silent exm-rs9261257 6 30022425 [A/G] NR_026751 ZNRD1-AS1 Silent exm-rs3869070 6 30023868 [T/C] NR_026751 ZNRD1-AS1 Silent exm-rs6928431 6 30024384 [T/A] NR_026751 ZNRD1-AS1 Silent exm-rs6911724 6 30025179 [A/G] NR_026751 ZNRD1-AS1 Silent exm-rs259919 6 30025503 [A/G] NR_026751 ZNRD1-AS1 Silent exm-rs7770505 6 30028913 [A/G] NR_026751 ZNRD1-AS1 EXON Silent exm-rs7770557 6 30029109 [C/G] NM_170783,NM_014596 ZNRD1,ZNRD1 EXON Silent,Silent exm526951 6 30029343 [T/G] NM_170783,NM_014596 ZNRD1,ZNRD1 EXON Missense_Q14H,Missense_Q14H exm-rs1150739 6 30031345 [T/C] NM_170783,NM_014596 ZNRD1,ZNRD1 Silent,Silent exm-rs8321 6 30032522 [A/C] NM_170783,NM_014596 ZNRD1,ZNRD1 EXON Silent,Silent exm-rs3188482 6 30032673 [A/G] NM_170783,NM_014596 ZNRD1,ZNRD1 EXON Silent,Silent exm-rs3807031 6 30033884 [A/C] exm-rs9261285 6 30036083 [A/C] NM_021959 PPP1R11 Silent exm2257727 6 30036957 [T/C] NM_021959 PPP1R11 EXON Synonymous_C85C exm-rs1245371 6 30038352 [A/G] NM_025236,NM_170769 RNF39,RNF39 EXON Silent,Silent exm-rs9261290 6 30038647 [T/C] NM_025236,NM_170769 RNF39,RNF39 EXON Silent,Silent exm-rs9261292 6 30038830 [C/G] NM_025236,NM_170769 RNF39,RNF39 EXON Silent,Silent exm526998 6 30039034 [G/C] NM_025236,NM_170769 RNF39,RNF39 EXON Missense_R373G,Silent exm527008 6 30039364 [A/C] NM_025236,NM_170769 RNF39,RNF39 EXON Missense_G263C,Missense_G263C exm527012 6 30041009 [A/G] NM_025236,NM_170769 RNF39,RNF39 EXON Missense_S203P,Missense_S203P exm-rs2285805 6 30042861 [G/C] NM_025236,NM_170769 RNF39,RNF39 Silent,Silent exm2120077 6 30043000 [T/C] NM_025236,NM_170769 RNF39,RNF39 EXON Synonymous_E189E,Synonymous_E189E exm527032 6 30043362 [T/C] NM_025236,NM_170769 RNF39,RNF39 EXON Missense_M69V,Missense_M69V exm-rs3807033 6 30043955 [A/G] exm-rs3132682 6 30044388 [G/C] exm-rs3807035 6 30044827 [T/C] exm-rs1150735 6 30045199 [A/G] exm-rs2394734 6 30046246 [A/G] exm-rs6909253 6 30055643 [T/G] exm-rs1264709 6 30056476 [A/T] exm-rs1264708 6 30057154 [A/G] exm-rs11965797 6 30057763 [T/C] exm-rs9261387 6 30061361 [T/C] exm-rs6923832 6 30062058 [A/G] exm-rs6457144 6 30063368 [T/A] exm-rs916570 6 30066031 [A/G] exm-rs7763159 6 30067681 [A/G] exm-rs9261403 6 30069525 [T/G] exm-rs2240070 6 30071110 [T/C] NM_007028 TRIM31 EXON Silent exm527045 6 30071330 [T/C] NM_007028 TRIM31 EXON Missense_E421K exm527047 6 30071363 [A/C] NM_007028 TRIM31 EXON Nonsense_E410X exm527056 6 30073004 [A/T] NM_007028 TRIM31 EXON Missense_D300V exm-rs3132680 6 30073195 [A/C] NM_007028 TRIM31 Silent exm-rs2844795 6 30073847 [T/C] NM_007028 TRIM31 Silent exm-rs3132679 6 30075843 [T/C] NM_007028 TRIM31 EXON Synonymous_L290L exm-rs2023472 6 30075864 [A/G] NM_007028 TRIM31 EXON Synonymous_H283H exm527063 6 30075877 [C/G] NM_007028 TRIM31 EXON Missense_A279G exm-rs2074483 6 30076755 [A/G] NM_007028 TRIM31 Silent exm-rs2523990 6 30077229 [A/G] NM_007028 TRIM31 Silent exm-rs4959041 6 30077967 [T/C] NM_007028 TRIM31 Silent exm2120094 6 30078235 [T/C] NM_007028 TRIM31 EXON Missense_Q245R exm527077 6 30078262 [T/C] NM_007028 TRIM31 EXON Missense_K236R exm527078 6 30078265 [A/G] NM_007028 TRIM31 EXON Missense_L235P exm527079 6 30078275 [T/C] NM_007028 TRIM31 EXON Missense_V232I exm-rs2239529 6 30078330 [T/C] NM_007028 TRIM31 EXON Synonymous_A213A exm-rs2523987 6 30079993 [A/C] NM_007028 TRIM31 Silent exm527093 6 30080204 [T/C] NM_007028 TRIM31 EXON Missense_N127D exm527096 6 30080231 [A/G] NM_007028 TRIM31 EXON Missense_R118C exm527098 6 30080280 [T/C] NM_007028 TRIM31 EXON Missense_M101I exm527104 6 30080369 [A/G] NM_007028 TRIM31 EXON Missense_R72W exm527105 6 30080405 [T/C] NM_007028 TRIM31 EXON Missense_V60I exm527106 6 30080441 [A/G] NM_007028 TRIM31 EXON Missense_C48R exm-rs2844793 6 30080496 [A/G] NM_007028 TRIM31 EXON Synonymous_I29I exm2120101 6 30080522 [T/C] NM_007028 TRIM31 EXON Missense_D21N exm527110 6 30080533 [C/G] NM_007028 TRIM31 EXON Missense_P17R exm527116 6 30080565 [A/C] NM_007028 TRIM31 EXON Missense_F6L exm527119 6 30080582 [T/C] NM_007028 TRIM31 EXON Missense_M1V exm-rs1015465 6 30086340 [T/C] exm-rs9261434 6 30087776 [C/G] exm-rs9261438 6 30089280 [T/C] exm-rs9261440 6 30090820 [T/C] exm-rs1419675 6 30092707 [T/G] exm-rs10947055 6 30093364 [T/C] exm-rs1419673 6 30096717 [A/G] exm-rs1419671 6 30097170 [T/A] exm-rs739784 6 30098135 [G/C] exm-rs9461570 6 30099458 [A/G] exm-rs1362104 6 30101656 [A/G] exm-rs2523995 6 30102184 [T/C] exm-rs1541267 6 30103571 [A/G] exm-rs2021723 6 30103923 [A/G] exm-rs9261468 6 30104480 [A/G] exm527135 6 30104982 [T/C] NM_138700 TRIM40 EXON Missense_R57W exm527136 6 30104989 [A/C] NM_138700 TRIM40 EXON Missense_P59H exm527143 6 30105113 [C/G] NM_138700 TRIM40 EXON Missense_M100I exm527146 6 30105154 [A/G] NM_138700 TRIM40 EXON Missense_Y114C exm-rs2107202 6 30105743 [T/C] NM_138700 TRIM40 Silent exm-rs9261485 6 30108751 [A/G] NM_138700 TRIM40 Silent exm-rs9261492 6 30110058 [A/G] NM_138700 TRIM40 Silent exm-rs9261508 6 30112704 [T/C] NM_138700 TRIM40 Silent exm527150 6 30113787 [A/G] NM_138700 TRIM40 EXON Missense_R121Q exm527151 6 30113826 [A/G] NM_138700 TRIM40 EXON Missense_R134Q exm-rs3815081 6 30114074 [A/G] NM_138700 TRIM40 Silent exm527163 6 30114877 [T/C] NM_138700 TRIM40 EXON Missense_P157L exm527164 6 30114897 [T/C] NM_138700 TRIM40 EXON Missense_L164F exm527166 6 30114955 [T/C] NM_138700 TRIM40 EXON Missense_T183M exm527168 6 30114960 [A/G] NM_138700 TRIM40 EXON Missense_K185E exm527179 6 30115542 [A/G] NM_138700 TRIM40 EXON Missense_E215K exm-rs3132676 6 30116078 [A/G] NM_138700 TRIM40 EXON Silent exm-rs1557611 6 30118360 [T/C] exm-rs1557608 6 30118582 [T/G] exm-rs2257914 6 30120563 [A/C] NM_052828,NM_006778 TRIM10,TRIM10 EXON Silent,Silent exm-rs2517653 6 30121185 [A/G] NM_052828,NM_006778 TRIM10,TRIM10 EXON Silent,Silent exm2243696 6 30121779 [A/C] NM_052828,NM_006778 TRIM10,TRIM10 EXON Silent,Missense_W471C exm527200 6 30121878 [G/C] NM_052828,NM_006778 TRIM10,TRIM10 EXON Silent,Missense_E438D exm527201 6 30121906 [A/C] NM_052828,NM_006778 TRIM10,TRIM10 EXON Silent,Missense_R429L exm527206 6 30122018 [T/C] NM_052828,NM_006778 TRIM10,TRIM10 EXON Silent,Missense_G392R exm527231 6 30122251 [A/G] NM_052828,NM_006778 TRIM10,TRIM10 EXON Missense_L314P,Missense_L314P exm527239 6 30124718 [A/G] NM_052828,NM_006778 TRIM10,TRIM10 EXON Missense_L298P,Missense_L298P exm527243 6 30124811 [T/C] NM_052828,NM_006778 TRIM10,TRIM10 EXON Missense_R267Q,Missense_R267Q exm527249 6 30126177 [A/G] NM_052828,NM_006778 TRIM10,TRIM10 EXON Missense_T252M,Missense_T252M exm527253 6 30126285 [T/C] NM_052828,NM_006778 TRIM10,TRIM10 EXON Missense_R216K,Missense_R216K exm527254 6 30126303 [A/T] NM_052828,NM_006778 TRIM10,TRIM10 EXON Missense_Q210L,Missense_Q210L exm527258 6 30126971 [G/C] NM_052828,NM_006778 TRIM10,TRIM10 EXON Missense_Q161E,Missense_Q161E exm-rs9261535 6 30127323 [A/G] NM_052828,NM_006778 TRIM10,TRIM10 Silent,Silent exm527271 6 30128281 [T/C] NM_052828,NM_006778 TRIM10,TRIM10 EXON Missense_V119M,Missense_V119M exm527283 6 30128442 [T/C] NM_052828,NM_006778 TRIM10,TRIM10 EXON Missense_R65H,Missense_R65H exm527288 6 30128559 [A/G] NM_052828,NM_006778 TRIM10,TRIM10 EXON Missense_P26L,Missense_P26L exm-rs2157678 6 30128949 [T/G] exm-rs2523734 6 30129676 [A/C] exm527306 6 30131546 [A/G] NM_033229 TRIM15 EXON Missense_I29V exm527308 6 30131585 [A/G] NM_033229 TRIM15 EXON Missense_A42T exm527310 6 30131681 [T/C] NM_033229 TRIM15 EXON Missense_P74S exm527311 6 30131711 [G/C] NM_033229 TRIM15 EXON Missense_E84Q exm527315 6 30131787 [T/C] NM_033229 TRIM15 EXON Missense_P109L exm-rs2074477 6 30132035 [A/G] NM_033229 TRIM15 Silent exm527318 6 30134965 [A/G] NM_033229 TRIM15 EXON Missense_S132G exm527322 6 30135009 [A/T] NM_033229 TRIM15 EXON Missense_D146E exm-rs9368624 6 30135977 [A/G] NM_033229 TRIM15 Silent exm527326 6 30136150 [A/G] NM_033229 TRIM15 EXON Missense_R184Q exm527331 6 30136302 [G/C] NM_033229 TRIM15 EXON Missense_L235V exm-rs929157 6 30137209 [A/G] NM_033229 TRIM15 Silent exm-rs1029239 6 30138162 [G/C] NM_033229 TRIM15 Silent exm527354 6 30139699 [A/G] NM_033229 TRIM15 EXON Missense_S324N exm527356 6 30139720 [T/G] NM_033229 TRIM15 EXON Missense_R331L exm527360 6 30139838 [C/G] NM_033229 TRIM15 EXON Missense_E370D exm527363 6 30139916 [A/C] NM_033229 TRIM15 EXON Nonsense_C396X exm527367 6 30139971 [G/C] NM_033229 TRIM15 EXON Missense_V415L exm-rs1063280 6 30140342 [T/C] NM_033229 TRIM15 EXON Silent exm-rs6905949 6 30140525 [T/C] exm-rs9380156 6 30141042 [A/G] exm-rs757257 6 30142458 [A/G] exm-rs2844782 6 30150043 [T/G] exm-rs2428504 6 30151370 [T/C] exm-rs2239530 6 30152115 [G/C] exm-rs2517623 6 30152961 [T/C] NM_003449,NM_001242783 TRIM26,TRIM26 EXON Silent,Silent exm527385 6 30153993 [T/C] NM_003449,NM_001242783 TRIM26,TRIM26 EXON Missense_E427G,Missense_E427G exm527389 6 30154049 [A/G] NM_003449,NM_001242783 TRIM26,TRIM26 EXON Synonymous_D408D,Synonymous_D408D exm527392 6 30154069 [T/C] NM_003449,NM_001242783 TRIM26,TRIM26 EXON Missense_G402S,Missense_G402S exm-rs2284165 6 30160055 [C/G] NM_003449,NM_001242783 TRIM26,TRIM26 Silent,Silent exm-rs4711211 6 30162809 [A/G] NM_003449,NM_001242783 TRIM26,TRIM26 Silent,Silent exm-rs2517614 6 30163955 [A/G] NM_003449,NM_001242783 TRIM26,TRIM26 Silent,Silent exm527417 6 30164338 [A/G] NM_003449,NM_001242783 TRIM26,TRIM26 EXON Synonymous_S240S,Synonymous_S240S exm527425 6 30164405 [A/G] NM_003449,NM_001242783 TRIM26,TRIM26 EXON Missense_T218M,Missense_T218M exm-rs2517613 6 30165662 [A/G] NM_003449,NM_001242783 TRIM26,TRIM26 Silent,Silent exm527431 6 30166266 [T/C] NM_003449,NM_001242783 TRIM26,TRIM26 EXON Synonymous_R158R,Synonymous_R158R exm527441 6 30166600 [T/C] NM_003449,NM_001242783 TRIM26,TRIM26 EXON Missense_R94Q,Missense_R94Q exm527449 6 30166755 [A/G] NM_003449,NM_001242783 TRIM26,TRIM26 EXON Synonymous_D42D,Synonymous_D42D exm-rs2523720 6 30166886 [T/C] NM_003449,NM_001242783 TRIM26,TRIM26 EXON Silent,Silent exm-rs2517611 6 30169327 [A/G] NM_003449,NM_001242783 TRIM26,TRIM26 Silent,Silent exm-rs2284168 6 30172233 [A/G] NM_003449,NM_001242783 TRIM26,TRIM26 Silent,Silent exm-rs885912 6 30174633 [A/C] NM_003449,NM_001242783 TRIM26,TRIM26 Silent,Silent exm-rs3132672 6 30175847 [A/C] NM_003449,NM_001242783 TRIM26,TRIM26 Silent,Silent exm-rs3132671 6 30178287 [T/C] NM_003449,NM_001242783 TRIM26,TRIM26 Silent,Silent exm-rs3130383 6 30179026 [A/C] NM_003449,NM_001242783 TRIM26,TRIM26 Silent,Silent exm-rs2844775 6 30179422 [A/G] NM_003449,NM_001242783 TRIM26,TRIM26 Silent,Silent exm-rs1345229 6 30182395 [A/G] exm-rs3130389 6 30188199 [T/C] exm-rs3130391 6 30190640 [T/C] exm-rs3132667 6 30191587 [A/G] exm-rs1264691 6 30193874 [T/C] exm-rs9501428 6 30195451 [T/C] exm-rs9261582 6 30196980 [A/G] exm-rs3094138 6 30199016 [T/C] exm-rs885916 6 30202571 [T/C] NR_052012 HCG17 Silent exm-rs885915 6 30202715 [T/C] NR_052012 HCG17 Silent exm-rs2844780 6 30204526 [T/G] NR_052012 HCG17 Silent exm-rs10456378 6 30206186 [A/G] NR_052012 HCG17 Silent exm-rs2253163 6 30209062 [T/G] NR_052012 HCG17 Silent exm-rs2285801 6 30209493 [A/G] NR_052012 HCG17 Silent exm-rs2523741 6 30211903 [G/C] NR_052012 HCG17 Silent exm-rs2022083 6 30213540 [T/A] NR_052012 HCG17 Silent exm-rs3132662 6 30215592 [A/G] NR_052012 HCG17 Silent exm-rs2844767 6 30222256 [A/G] NR_052012 HCG17 Silent exm-rs1579219 6 30224305 [T/C] NR_052012 HCG17 Silent exm-rs928824 6 30224889 [T/C] NR_052012 HCG17 Silent exm-rs2021107 6 30228138 [A/G] NR_052012,NR_027822 HCG17,HLA-L Silent,Silent exm-rs2516703 6 30229922 [A/G] NR_052012,NR_027822 HCG17,HLA-L Silent,Silent exm-rs3094073 6 30231224 [A/G] NR_052012,NR_027822 HCG17,HLA-L EXON Silent,Silent exm-rs2516698 6 30232374 [A/G] NR_052012,NR_027822 HCG17,HLA-L EXON Silent,Silent exm-rs2516697 6 30232514 [A/G] NR_052012,NR_027822 HCG17,HLA-L EXON Silent,Silent exm-rs3129703 6 30233558 [A/C] NR_052012,NR_027822 HCG17,HLA-L EXON Silent,Silent exm-rs2844763 6 30235184 [T/C] NR_052012 HCG17 Silent exm-rs2844762 6 30236754 [T/C] NR_052012 HCG17 Silent exm-rs1158763 6 30240074 [T/C] NR_052012 HCG17 Silent exm-rs2097773 6 30240926 [A/C] NR_052012 HCG17 Silent exm-rs968909 6 30244579 [T/C] NR_052012 HCG17 Silent exm-rs2844754 6 30246212 [A/C] NR_052012 HCG17 Silent exm-rs4713305 6 30252836 [T/A] NR_052012 HCG17 Silent exm-rs10484551 6 30256838 [A/G] NR_052012,NR_024052,NR_024053 HCG17,HCG18,HCG18 EXON Silent,Silent,Silent exm-rs928823 6 30257846 [T/A] NR_052012,NR_024052,NR_024053 HCG17,HCG18,HCG18 EXON Silent,Silent,Silent exm-rs1045251 6 30259657 [T/G] NR_052012,NR_024052,NR_024053 HCG17,HCG18,HCG18 EXON Silent,Silent,Silent exm-rs1048664 6 30262512 [A/G] NR_052012,NR_024052,NR_024053 HCG17,HCG18,HCG18 EXON Silent,Silent,Silent exm-rs1264616 6 30264307 [T/C] NR_052012,NR_024052,NR_024053 HCG17,HCG18,HCG18 Silent,Silent,Silent exm-rs3094631 6 30267748 [A/G] NR_052012,NR_024052,NR_024053 HCG17,HCG18,HCG18 Silent,Silent,Silent exm-rs261950 6 30269561 [T/A] NR_052012,NR_024052,NR_024053 HCG17,HCG18,HCG18 Silent,Silent,Silent exm-rs261949 6 30270080 [A/G] NR_052012,NR_024052,NR_024053 HCG17,HCG18,HCG18 Silent,Silent,Silent exm-rs261945 6 30272417 [C/G] NR_052012,NR_024052,NR_024053 HCG17,HCG18,HCG18 Silent,Silent,Silent exm-rs261943 6 30273371 [A/G] NR_052012,NR_024052,NR_024053 HCG17,HCG18,HCG18 Silent,Silent,Silent exm-rs928822 6 30275246 [T/G] NR_052012,NR_024052,NR_024053 HCG17,HCG18,HCG18 Silent,Silent,Silent exm-rs1264608 6 30278112 [T/C] NR_052012,NR_024052,NR_024053 HCG17,HCG18,HCG18 Silent,Silent,Silent exm-rs3130380 6 30279130 [A/G] NR_052012,NR_024052,NR_024053 HCG17,HCG18,HCG18 Silent,Silent,Silent exm-rs9295843 6 30281234 [A/T] NR_052012,NR_024052,NR_024053 HCG17,HCG18,HCG18 Silent,Silent,Silent exm-rs3094065 6 30282332 [T/C] NR_052012,NR_024052,NR_024053 HCG17,HCG18,HCG18 Silent,Silent,Silent exm-rs1264585 6 30285650 [T/A] NR_052012,NR_024052,NR_024053 HCG17,HCG18,HCG18 Silent,Silent,Silent exm-rs6900042 6 30289271 [T/C] NR_052012,NR_024052,NR_024053 HCG17,HCG18,HCG18 Silent,Silent,Silent exm-rs1264583 6 30293483 [T/C] NR_052012,NR_024052,NR_024053 HCG17,HCG18,HCG18 Silent,Silent,Silent exm-rs3094064 6 30296253 [A/G] NM_021253,NM_172016 TRIM39,TRIM39 Silent,Silent exm527503 6 30297126 [G/C] NM_021253,NM_172016,NM_001199119 TRIM39,TRIM39,TRIM39-RPP21 EXON Missense_A11G,Missense_A11G,Missense_A11G exm-rs2057727 6 30297529 [T/C] NM_021253,NM_172016,NM_001199119 TRIM39,TRIM39,TRIM39-RPP21 EXON Synonymous_D145D,Synonymous_D145D,Synonymous_D145D exm527510 6 30298625 [T/C] NM_021253,NM_172016,NM_001199119 TRIM39,TRIM39,TRIM39-RPP21 EXON Missense_S174F,Missense_S174F,Missense_S174F exm-rs3778624 6 30302600 [T/G] NM_021253,NM_172016,NM_001199119 TRIM39,TRIM39,TRIM39-RPP21 Silent,Silent,Silent exm-rs3129838 6 30306553 [A/G] NM_021253,NM_172016,NM_001199119 TRIM39,TRIM39,TRIM39-RPP21 Silent,Silent,Silent exm-rs3129840 6 30307342 [G/C] NM_021253,NM_172016,NM_001199119 TRIM39,TRIM39,TRIM39-RPP21 Silent,Silent,Silent exm527519 6 30308095 [T/C] NM_021253,NM_172016,NM_001199119 TRIM39,TRIM39,TRIM39-RPP21 EXON Missense_R284W,Silent,Silent exm527521 6 30308326 [A/G] NM_021253,NM_172016,NM_001199119 TRIM39,TRIM39,TRIM39-RPP21 EXON Missense_E313G,Missense_E283G,Missense_E283G exm527522 6 30308347 [A/G] NM_021253,NM_172016,NM_001199119 TRIM39,TRIM39,TRIM39-RPP21 EXON Missense_N320S,Missense_N290S,Missense_N290S exm-rs2074474 6 30309508 [T/C] NM_021253,NM_172016,NM_001199119 TRIM39,TRIM39,TRIM39-RPP21 EXON Synonymous_P343P,Synonymous_P313P,Synonymous_P313P exm527525 6 30309530 [T/G] NM_021253,NM_172016,NM_001199119 TRIM39,TRIM39,TRIM39-RPP21 EXON Missense_V351F,Missense_V321F,Missense_V321F exm527527 6 30309546 [A/G] NM_021253,NM_172016,NM_001199119 TRIM39,TRIM39,TRIM39-RPP21 EXON Missense_R356H,Missense_R326H,Missense_R326H exm527536 6 30310010 [A/G] NM_021253,NM_172016,NM_001199119 TRIM39,TRIM39,TRIM39-RPP21 EXON Missense_I511V,Missense_I481V,Silent exm-rs2240058 6 30310500 [T/C] NM_021253,NM_172016,NM_001199119 TRIM39,TRIM39,TRIM39-RPP21 EXON Silent,Silent,Silent exm-rs6931763 6 30311932 [A/C] NM_001199119 TRIM39-RPP21 Silent exm527540 6 30312958 [T/C] NM_001199119,NM_001199121,NM_024839,NM_001199120 TRIM39-RPP21,RPP21,RPP21,RPP21 EXON Silent,Missense_P4S,Missense_P4S,Missense_P4S exm527552 6 30313268 [A/G] NM_001199119,NM_001199121,NM_024839,NM_001199120 TRIM39-RPP21,RPP21,RPP21,RPP21 EXON Synonymous_R402R,Synonymous_R53R,Synonymous_R53R,Synonymous_R61R exm527557 6 30313340 [C/G] NM_001199119,NM_001199121,NM_024839,NM_001199120 TRIM39-RPP21,RPP21,RPP21,RPP21 EXON Missense_Q426H,Missense_Q77H,Missense_Q77H,Missense_Q85H exm527562 6 30314275 [A/G] NM_001199119,NM_001199121,NM_024839,NM_001199120 TRIM39-RPP21,RPP21,RPP21,RPP21 EXON Missense_N452S,Missense_N103S,Missense_N103S,Missense_N111S exm527565 6 30314329 [A/C] NM_001199119,NM_001199121,NM_024839,NM_001199120 TRIM39-RPP21,RPP21,RPP21,RPP21 EXON Missense_Q470P,Missense_Q121P,Missense_Q121P,Missense_Q129P exm527570 6 30314567 [A/C] NM_001199119,NM_001199121,NM_024839,NM_001199120 TRIM39-RPP21,RPP21,RPP21,RPP21 EXON Missense_Q498K,Silent,Missense_Q149K,Missense_Q157K exm-rs9394003 6 30315210 [A/G] exm-rs6905389 6 30319930 [A/C] exm-rs3094061 6 30321189 [A/C] exm-rs984802 6 30321361 [T/G] exm-rs3130377 6 30323393 [T/C] exm-rs3094626 6 30323623 [T/C] exm-rs3130379 6 30325531 [T/C] exm-rs3130352 6 30328357 [T/C] exm-rs11754099 6 30329101 [A/G] exm-rs2251765 6 30330341 [T/G] exm-rs2158285 6 30331027 [A/G] exm-rs1012411 6 30332555 [T/G] exm-rs3094054 6 30333505 [T/G] exm-rs886390 6 30334994 [A/C] exm-rs2057726 6 30335350 [T/C] exm-rs3129809 6 30335621 [A/G] exm-rs2022079 6 30337738 [T/C] exm-rs2844748 6 30338138 [A/T] exm-rs3129813 6 30338247 [A/G] exm-rs2844746 6 30339602 [T/C] exm-rs3132643 6 30340145 [T/C] exm-rs3129816 6 30341068 [A/G] exm-rs2844745 6 30343703 [T/C] exm-rs3132629 6 30346093 [A/C] exm-rs970270 6 30347306 [A/G] exm-rs3132625 6 30347720 [A/G] exm-rs2516683 6 30348090 [A/G] exm-rs7744914 6 30348247 [A/G] exm-rs2844743 6 30348832 [A/G] exm-rs3130133 6 30350087 [A/C] exm-rs3130122 6 30352527 [T/C] exm-rs12210213 6 30355699 [A/G] exm2257729 6 30357291 [T/G] exm-rs3130144 6 30358522 [T/C] exm-rs3094698 6 30361193 [T/C] exm-rs3130109 6 30362751 [T/G] exm-rs2187978 6 30362961 [T/C] exm-rs2516688 6 30364524 [T/C] exm-rs1264570 6 30365210 [T/C] exm-rs1264569 6 30365320 [T/C] exm-rs3130116 6 30365448 [T/C] exm-rs3130118 6 30365740 [T/C] exm-rs2023372 6 30372018 [T/C] exm-rs1264562 6 30372812 [T/G] exm-rs9261800 6 30376599 [G/C] exm-rs1079991 6 30377860 [A/G] exm-rs9261829 6 30380245 [T/C] exm-rs978009 6 30382579 [T/C] exm-rs1150770 6 30383956 [T/C] exm-rs1150772 6 30384671 [C/G] exm-rs6916716 6 30385235 [A/C] exm-rs1264539 6 30388701 [T/C] exm-rs9261895 6 30389323 [T/C] exm-rs9261919 6 30391723 [A/G] exm-rs9261947 6 30394628 [T/C] exm-rs1264524 6 30404786 [A/C] exm-rs1269556 6 30408787 [T/C] exm-rs1264513 6 30412362 [A/G] exm-rs1362115 6 30414848 [T/C] exm-rs2105961 6 30415636 [A/C] exm-rs12183946 6 30418533 [A/G] exm-rs3094693 6 30418966 [A/C] exm-rs1076832 6 30419831 [A/C] exm-rs2524198 6 30421502 [A/G] exm-rs2844729 6 30422632 [A/G] exm-rs2516677 6 30424623 [A/C] exm-rs2524182 6 30425943 [A/T] exm-rs2524180 6 30426130 [T/C] exm-rs2077573 6 30428351 [A/G] exm-rs2021368 6 30429383 [T/C] exm-rs2516676 6 30430482 [C/G] exm-rs2524172 6 30433611 [A/G] exm-rs7764934 6 30434566 [A/G] exm-rs6930977 6 30435288 [A/G] exm-rs9295895 6 30438226 [T/C] exm-rs12174433 6 30445476 [A/G] exm-rs7775268 6 30446963 [A/G] exm-rs6909620 6 30448668 [A/C] exm-rs2021720 6 30449244 [G/C] exm-rs3094694 6 30451904 [T/C] exm-rs2157605 6 30454076 [T/C] exm-rs762324 6 30455886 [A/G] exm527583 6 30457671 [T/C] NM_005516 HLA-E EXON Missense_S78L exm527587 6 30457766 [A/G] NM_005516 HLA-E EXON Missense_E110K exm527590 6 30458064 [A/G] NM_005516 HLA-E EXON Missense_G128R exm527606 6 30459165 [T/C] NM_005516 HLA-E EXON Missense_P288S exm-rs2508024 6 30465512 [T/C] exm-rs3131115 6 30468791 [T/C] exm-rs2844723 6 30470301 [A/T] exm-rs2429657 6 30471520 [A/G] exm-rs2516662 6 30475415 [A/G] exm-rs975195 6 30477947 [A/G] exm-rs2534814 6 30480877 [G/C] exm-rs2534812 6 30482993 [T/C] exm-rs2534804 6 30486456 [T/C] exm-rs2534825 6 30495743 [A/G] exm-rs2524226 6 30497490 [A/G] exm-rs1468079 6 30506383 [A/C] exm-rs3130117 6 30508956 [A/G] exm-rs2524222 6 30511170 [T/C] NM_005275 GNL1 EXON Silent exm-rs1058318 6 30512163 [T/C] NM_005275 GNL1 EXON Silent exm527631 6 30514073 [G/C] NM_005275 GNL1 EXON Missense_P534A exm527634 6 30514529 [A/G] NM_005275 GNL1 EXON Missense_A509V exm527635 6 30514577 [A/G] NM_005275 GNL1 EXON Missense_A493V exm-rs3815101 6 30514810 [T/C] NM_005275 GNL1 Silent exm-rs3130247 6 30515043 [T/C] NM_005275 GNL1 EXON Synonymous_A429A exm527648 6 30515193 [C/G] NM_005275 GNL1 EXON Missense_P405R exm-rs2844715 6 30516353 [C/G] NM_005275 GNL1 Silent exm527659 6 30520367 [T/C] NM_005275 GNL1 EXON Missense_E326K exm527663 6 30520421 [A/G] NM_005275 GNL1 EXON Missense_R308W exm527667 6 30520935 [A/C] NM_005275 GNL1 EXON Missense_R277L exm527669 6 30520955 [A/G] NM_005275 GNL1 EXON Synonymous_V270V exm527675 6 30521187 [A/G] NM_005275 GNL1 EXON Missense_H250Y exm-rs4279479 6 30521966 [A/T] NM_005275 GNL1 Silent exm527679 6 30522401 [A/C] NM_005275 GNL1 EXON Missense_V184G exm527686 6 30522918 [T/C] NM_005275 GNL1 EXON Missense_K97R exm527700 6 30525137 [A/C] NM_005275,NM_025263,NM_001077497 GNL1,PRR3,PRR3 EXON Silent,Missense_K6Q,Missense_K6Q exm-rs2516647 6 30526845 [T/G] NM_025263,NM_001077497 PRR3,PRR3 Silent,Silent exm527708 6 30529622 [A/G] NM_025263,NM_001077497 PRR3,PRR3 EXON Missense_G61S,Missense_G40S exm527716 6 30529757 [A/G] NM_025263,NM_001077497 PRR3,PRR3 EXON Missense_A106T,Missense_A85T exm527721 6 30530178 [A/G] NM_025263,NM_001077497 PRR3,PRR3 EXON Missense_R158H,Missense_R137H exm-rs2074503 6 30530496 [T/C] NM_025263,NM_001077497 PRR3,PRR3 EXON Silent,Silent exm-rs9262113 6 30532278 [A/G] NM_025263,NM_001077497 PRR3,PRR3 EXON Silent,Silent exm-rs3130041 6 30536133 [T/C] exm-rs3132613 6 30537606 [G/C] exm-rs3130243 6 30537853 [A/C] exm-rs2269710 6 30539952 [T/C] NM_001090,NM_001025091 ABCF1,ABCF1 Silent,Silent exm-rs2269709 6 30540890 [T/C] NM_001090,NM_001025091 ABCF1,ABCF1 Silent,Silent exm-rs3132610 6 30544401 [A/G] NM_001090,NM_001025091 ABCF1,ABCF1 Silent,Silent exm2120263 6 30545953 [T/G] NM_001090,NM_001025091 ABCF1,ABCF1 EXON Missense_V106G,Missense_V106G exm2243703 6 30545962 [A/G] NM_001090,NM_001025091 ABCF1,ABCF1 EXON Missense_S109N,Missense_S109N exm-rs1264446 6 30546395 [A/G] NM_001090,NM_001025091 ABCF1,ABCF1 Silent,Silent exm527762 6 30548210 [A/G] NM_001090,NM_001025091 ABCF1,ABCF1 EXON Missense_N198D,Missense_N198D exm-rs1264440 6 30551286 [A/G] NM_001090,NM_001025091 ABCF1,ABCF1 Silent,Silent exm527784 6 30552053 [A/G] NM_001090,NM_001025091 ABCF1,ABCF1 EXON Missense_R358Q,Missense_R396Q exm-rs3130244 6 30552937 [A/C] NM_001090,NM_001025091 ABCF1,ABCF1 Silent,Silent exm527794 6 30553398 [T/G] NM_001090,NM_001025091 ABCF1,ABCF1 EXON Missense_D475E,Missense_D513E exm527799 6 30553710 [A/G] NM_001090,NM_001025091 ABCF1,ABCF1 EXON Missense_E514G,Missense_E552G exm527802 6 30553768 [A/G] NM_001090,NM_001025091 ABCF1,ABCF1 EXON Synonymous_A533A,Synonymous_A571A exm-rs1264437 6 30553871 [T/C] NM_001090,NM_001025091 ABCF1,ABCF1 Silent,Silent exm527807 6 30553990 [C/G] NM_001090,NM_001025091 ABCF1,ABCF1 EXON Missense_A560G,Missense_A598G exm527808 6 30553993 [T/C] NM_001090,NM_001025091 ABCF1,ABCF1 EXON Missense_P561L,Missense_P599L exm-rs6918685 6 30556016 [T/C] NM_001090,NM_001025091 ABCF1,ABCF1 Silent,Silent exm527822 6 30557940 [T/C] NM_001090,NM_001025091 ABCF1,ABCF1 EXON Nonsense_R712X,Nonsense_R750X exm-rs4148249 6 30558190 [A/C] NM_001090,NM_001025091 ABCF1,ABCF1 Silent,Silent exm527830 6 30558402 [A/C] NM_001090,NM_001025091 ABCF1,ABCF1 EXON Missense_D783A,Missense_D821A exm-rs1264432 6 30562021 [A/G] exm-rs1264429 6 30565101 [T/C] exm-rs7759666 6 30569489 [T/C] NR_072994,NM_002714 PPP1R10,PPP1R10 Silent,Silent exm2243706 6 30569802 [A/G] NR_072994,NM_002714 PPP1R10,PPP1R10 EXON Silent,Missense_P875L exm527859 6 30570112 [T/C] NR_072994,NM_002714 PPP1R10,PPP1R10 EXON Silent,Missense_G772S exm527860 6 30570113 [T/G] NR_072994,NM_002714 PPP1R10,PPP1R10 EXON Silent,Missense_E771D exm527864 6 30570240 [T/C] NR_072994,NM_002714 PPP1R10,PPP1R10 EXON Silent,Missense_R729H exm527865 6 30570253 [T/C] NR_072994,NM_002714 PPP1R10,PPP1R10 EXON Silent,Missense_A725T exm527896 6 30571441 [C/G] NR_072994,NM_002714 PPP1R10,PPP1R10 EXON Silent,Missense_E525D exm-rs7742650 6 30573334 [A/G] NR_072994,NM_002714 PPP1R10,PPP1R10 Silent,Silent exm-rs1264419 6 30576781 [G/C] NR_072994,NM_002714 PPP1R10,PPP1R10 Silent,Silent exm-rs2267637 6 30578335 [T/C] NR_072994,NM_002714 PPP1R10,PPP1R10 Silent,Silent exm-rs2252745 6 30579315 [T/C] NR_072994,NM_002714 PPP1R10,PPP1R10 Silent,Silent exm-rs3895681 6 30585771 [C/G] NM_014046 MRPS18B Silent exm527958 6 30587354 [T/C] NM_014046 MRPS18B EXON Missense_P55S exm527966 6 30587530 [T/C] NM_014046 MRPS18B EXON Missense_R78C exm-rs2302347 6 30587613 [T/C] NM_014046 MRPS18B Silent exm527975 6 30587699 [A/G] NM_014046 MRPS18B EXON Missense_R96H exm-rs2270172 6 30592414 [T/C] NM_014046 MRPS18B Silent exm528002 6 30593485 [C/G] NM_014046 MRPS18B EXON Missense_P230A exm528004 6 30593528 [T/C] NM_014046 MRPS18B EXON Missense_A244V exm528021 6 30595648 [T/C] NM_024909,NM_001254952,NM_001031722 ATAT1,ATAT1,ATAT1 EXON Missense_I94T,Missense_I94T,Missense_I82T exm528023 6 30595658 [G/C] NM_024909,NM_001254952,NM_001031722 ATAT1,ATAT1,ATAT1 EXON Missense_I97M,Missense_I97M,Missense_I85M exm-rs6904236 6 30596135 [A/G] NM_024909,NM_001254952,NM_001031722 ATAT1,ATAT1,ATAT1 EXON Synonymous_A155A,Synonymous_A155A,Synonymous_A143A exm-rs4713340 6 30599702 [A/G] NM_024909,NM_001254952,NM_001031722 ATAT1,ATAT1,ATAT1 Silent,Silent,Silent exm-rs12665339 6 30601232 [A/G] NM_024909,NM_001254952,NM_001031722 ATAT1,ATAT1,ATAT1 Silent,Silent,Silent exm-rs9262130 6 30603519 [A/G] NM_024909,NM_001254952,NM_001031722 ATAT1,ATAT1,ATAT1 Silent,Silent,Silent exm528035 6 30608354 [T/C] NM_024909,NM_001254952,NM_001031722 ATAT1,ATAT1,ATAT1 EXON Missense_A209V,Silent,Missense_A197V exm-rs3094104 6 30609629 [A/G] NM_024909,NM_001254952,NM_001031722 ATAT1,ATAT1,ATAT1 Silent,Silent,Silent exm528050 6 30610625 [G/C] NM_024909,NM_001254952,NM_001031722 ATAT1,ATAT1,ATAT1 EXON Missense_R269G,Missense_R246G,Missense_R257G exm528056 6 30610758 [T/G] NM_024909,NM_001254952,NM_001031722 ATAT1,ATAT1,ATAT1 EXON Missense_G313V,Missense_G290V,Missense_G301V exm528058 6 30610776 [A/G] NM_024909,NM_001254952,NM_001031722 ATAT1,ATAT1,ATAT1 EXON Missense_R319H,Missense_R296H,Missense_R307H exm-rs1140809 6 30611676 [A/C] NM_024909,NM_001254952,NM_001031722 ATAT1,ATAT1,ATAT1 EXON Silent,Silent,Silent exm528062 6 30613716 [A/G] NM_001031722 ATAT1 EXON Missense_R326H exm-rs2188098 6 30613980 [T/C] NM_001031722 ATAT1 Silent exm528082 6 30615357 [A/G] NM_001161376,NM_001109938,NM_145029 C6orf136,C6orf136,C6orf136 EXON Missense_D117N,Silent,Silent exm528094 6 30617532 [C/G] NM_001161376,NM_001109938,NM_145029 C6orf136,C6orf136,C6orf136 EXON Missense_K271N,Missense_K90N,Silent exm528097 6 30617660 [T/C] NM_001161376,NM_001109938,NM_145029 C6orf136,C6orf136,C6orf136 EXON Missense_P314L,Missense_P133L,Silent exm528098 6 30617680 [A/G] NM_001161376,NM_001109938,NM_145029 C6orf136,C6orf136,C6orf136 EXON Missense_G321R,Missense_G140R,Silent exm-rs9262135 6 30618906 [A/G] NM_001161376,NM_001109938,NM_145029 C6orf136,C6orf136,C6orf136 Silent,Silent,Silent exm528106 6 30619137 [T/C] NM_001161376,NM_001109938,NM_145029 C6orf136,C6orf136,C6orf136 EXON Missense_R401C,Missense_R220C,Missense_R86C exm528109 6 30619221 [T/C] NM_001161376,NM_001109938,NM_145029 C6orf136,C6orf136,C6orf136 EXON Missense_R429C,Missense_R248C,Missense_R114C exm528123 6 30621054 [T/G] NM_003587,NM_001164239 DHX16,DHX16 EXON Missense_K1031Q,Missense_K971Q exm528131 6 30622603 [T/G] NM_003587,NM_001164239 DHX16,DHX16 EXON Nonsense_Y959X,Nonsense_Y899X exm528143 6 30623339 [C/G] NM_003587,NM_001164239 DHX16,DHX16 EXON Missense_A845G,Missense_A785G exm528149 6 30624241 [T/C] NM_003587,NM_001164239 DHX16,DHX16 EXON Missense_Y786C,Missense_Y726C exm-rs1076829 6 30627216 [T/C] NM_003587,NM_001164239 DHX16,DHX16 Silent,Silent exm-rs4713346 6 30631063 [A/G] NM_003587,NM_001164239 DHX16,DHX16 Silent,Silent exm528195 6 30632584 [T/A] NM_003587,NM_001164239 DHX16,DHX16 EXON Missense_F437L,Missense_F377L exm528196 6 30632655 [T/C] NM_003587,NM_001164239 DHX16,DHX16 EXON Missense_N414D,Missense_N354D exm528207 6 30632919 [T/C] NM_003587,NM_001164239 DHX16,DHX16 EXON Missense_K352E,Missense_K292E exm528212 6 30633261 [T/C] NM_003587,NM_001164239 DHX16,DHX16 EXON Missense_G306R,Missense_G246R exm528215 6 30633323 [A/G] NM_003587,NM_001164239 DHX16,DHX16 EXON Missense_A285V,Missense_A225V exm528219 6 30633377 [T/C] NM_003587,NM_001164239 DHX16,DHX16 EXON Missense_R267Q,Missense_R207Q exm528220 6 30633386 [T/C] NM_003587,NM_001164239 DHX16,DHX16 EXON Missense_R264Q,Missense_R204Q exm-rs3094097 6 30633875 [A/G] NM_003587,NM_001164239 DHX16,DHX16 Silent,Silent exm-rs7749235 6 30635593 [T/C] NM_003587,NM_001164239 DHX16,DHX16 Silent,Silent exm-rs2285321 6 30637998 [A/G] NM_003587,NM_001164239 DHX16,DHX16 Silent,Silent exm528226 6 30638221 [T/C] NM_003587,NM_001164239 DHX16,DHX16 EXON Missense_R211H,Missense_R151H exm528234 6 30638831 [T/A] NM_003587,NM_001164239 DHX16,DHX16 EXON Missense_K143I,Missense_K83I exm528236 6 30638864 [T/C] NM_003587,NM_001164239 DHX16,DHX16 EXON Missense_R132H,Missense_R72H exm-rs6937357 6 30640324 [T/C] NM_003587,NM_001164239 DHX16,DHX16 Silent,Silent exm528251 6 30640468 [T/C] NM_003587,NM_001164239 DHX16,DHX16 EXON Missense_D51N,Silent exm528258 6 30640609 [G/C] NM_003587,NM_001164239 DHX16,DHX16 EXON Missense_P4A,Silent exm528260 6 30640738 [A/G] NM_003587,NM_001164239 DHX16,DHX16 EXON Silent,Missense_P8S exm-rs9468805 6 30643709 [A/G] exm528264 6 30645050 [T/C] NM_133471,NM_001134870 PPP1R18,PPP1R18 EXON Missense_R613Q,Missense_R613Q exm-rs11965214 6 30647005 [G/C] NM_133471,NM_001134870 PPP1R18,PPP1R18 EXON Synonymous_L591L,Synonymous_L591L exm528268 6 30647035 [T/G] NM_133471,NM_001134870 PPP1R18,PPP1R18 EXON Missense_D581E,Missense_D581E exm-rs3129994 6 30647860 [A/G] NM_133471,NM_001134870 PPP1R18,PPP1R18 Silent,Silent exm-rs6457254 6 30649134 [T/C] NM_133471,NM_001134870 PPP1R18,PPP1R18 Silent,Silent exm-rs2394392 6 30650318 [T/G] NM_133471,NM_001134870 PPP1R18,PPP1R18 Silent,Silent exm-rs3129996 6 30651587 [A/C] NM_133471,NM_001134870 PPP1R18,PPP1R18 Silent,Silent exm528285 6 30652580 [C/G] NM_133471,NM_001134870 PPP1R18,PPP1R18 EXON Missense_E406Q,Missense_E406Q exm528292 6 30652729 [A/G] NM_133471,NM_001134870 PPP1R18,PPP1R18 EXON Missense_P356L,Missense_P356L exm528294 6 30652781 [T/C] NM_133471,NM_001134870 PPP1R18,PPP1R18 EXON Missense_G339R,Missense_G339R exm528301 6 30652946 [C/G] NM_133471,NM_001134870 PPP1R18,PPP1R18 EXON Missense_V284L,Missense_V284L exm528303 6 30652978 [A/G] NM_133471,NM_001134870 PPP1R18,PPP1R18 EXON Missense_S273L,Missense_S273L exm528309 6 30653126 [T/A] NM_133471,NM_001134870 PPP1R18,PPP1R18 EXON Missense_S224C,Missense_S224C exm528310 6 30653128 [A/G] NM_133471,NM_001134870 PPP1R18,PPP1R18 EXON Missense_L223P,Missense_L223P exm528311 6 30653141 [C/G] NM_133471,NM_001134870 PPP1R18,PPP1R18 EXON Missense_V219L,Missense_V219L exm528313 6 30653168 [G/C] NM_133471,NM_001134870 PPP1R18,PPP1R18 EXON Missense_R210G,Missense_R210G exm2120422 6 30653359 [A/G] NM_133471,NM_001134870 PPP1R18,PPP1R18 EXON Missense_P146L,Missense_P146L exm528319 6 30653377 [T/C] NM_133471,NM_001134870 PPP1R18,PPP1R18 EXON Missense_R140K,Missense_R140K exm528321 6 30653408 [A/G] NM_133471,NM_001134870 PPP1R18,PPP1R18 EXON Missense_R130W,Missense_R130W exm528332 6 30653549 [T/C] NM_133471,NM_001134870 PPP1R18,PPP1R18 EXON Missense_G83R,Missense_G83R exm528337 6 30653723 [A/G] NM_133471,NM_001134870 PPP1R18,PPP1R18 EXON Nonsense_R25X,Nonsense_R25X exm528345 6 30656463 [T/C] NM_001270708,NM_001270709,NM_007243,NR_073065,NM_001270707,NR_073066,NM_001270710,NR_073072 NRM,NRM,NRM,NRM,NRM,NRM,NRM,NRM EXON Silent,Missense_R196Q,Missense_R255Q,Silent,Missense_R261Q,Silent,Silent,Silent exm528347 6 30656509 [A/G] NM_001270708,NM_001270709,NM_007243,NR_073065,NM_001270707,NR_073066,NM_001270710,NR_073072 NRM,NRM,NRM,NRM,NRM,NRM,NRM,NRM EXON Silent,Missense_R181C,Missense_R240C,Silent,Missense_R246C,Silent,Silent,Silent exm-rs2269704 6 30656953 [A/G] NM_001270708,NM_001270709,NM_007243,NR_073065,NM_001270707,NR_073066,NM_001270710,NR_073072 NRM,NRM,NRM,NRM,NRM,NRM,NRM,NRM Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm528361 6 30657112 [T/G] NM_001270708,NM_001270709,NM_007243,NR_073065,NM_001270707,NR_073066,NM_001270710,NR_073072 NRM,NRM,NRM,NRM,NRM,NRM,NRM,NRM EXON Silent,Silent,Missense_L150I,Silent,Missense_L156I,Silent,Silent,Silent exm528367 6 30657220 [A/G] NM_001270708,NM_001270709,NM_007243,NR_073065,NM_001270707,NR_073066,NM_001270710,NR_073072 NRM,NRM,NRM,NRM,NRM,NRM,NRM,NRM EXON Silent,Silent,Missense_R114W,Silent,Missense_R120W,Silent,Silent,Silent exm-rs1075496 6 30658239 [A/C] NM_001270708,NM_001270709,NM_007243,NR_073065,NM_001270707,NR_073066,NM_001270710,NR_073072 NRM,NRM,NRM,NRM,NRM,NRM,NRM,NRM Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm-rs2269703 6 30658385 [T/C] NM_001270708,NM_001270709,NM_007243,NR_073065,NM_001270707,NR_073066,NM_001270710,NR_073072 NRM,NRM,NRM,NRM,NRM,NRM,NRM,NRM EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm-rs3130663 6 30666594 [A/G] exm-rs9468811 6 30666669 [G/C] exm528385 6 30668246 [T/G] NM_014641 MDC1 EXON Missense_T2089N exm-rs2894043 6 30668488 [C/G] NM_014641 MDC1 Silent exm-rs9405048 6 30670292 [T/C] NM_014641 MDC1 Silent exm528405 6 30670918 [T/C] NM_014641 MDC1 EXON Missense_R1943Q exm528408 6 30671206 [T/C] NM_014641 MDC1 EXON Missense_T1891A exm528409 6 30671229 [T/C] NM_014641 MDC1 EXON Missense_R1883Q exm528415 6 30671312 [A/C] NM_014641 MDC1 EXON Missense_D1855E exm528418 6 30671588 [T/A] NM_014641 MDC1 EXON Missense_V1791E exm528421 6 30671634 [A/G] NM_014641 MDC1 EXON Missense_P1776S exm528426 6 30671726 [C/G] NM_014641 MDC1 EXON Missense_P1745R exm528428 6 30671760 [T/C] NM_014641 MDC1 EXON Missense_A1734T exm528430 6 30671807 [A/G] NM_014641 MDC1 EXON Missense_P1718L exm2274139 6 30671813 [A/G] NM_014641 MDC1 EXON Missense_T1716I exm528436 6 30671952 [T/C] NM_014641 MDC1 EXON Missense_V1670I exm528437 6 30671959 [G/C] NM_014641 MDC1 EXON Missense_D1667E exm528438 6 30671969 [G/C] NM_014641 MDC1 EXON Missense_T1664S exm528442 6 30672028 [A/C] NM_014641 MDC1 EXON Missense_R1644S exm528455 6 30672353 [T/G] NM_014641 MDC1 EXON Missense_E1536A exm528457 6 30672413 [A/C] NM_014641 MDC1 EXON Missense_R1516M exm528460 6 30672433 [A/C] NM_014641 MDC1 EXON Missense_E1509D exm528463 6 30672479 [A/G] NM_014641 MDC1 EXON Missense_P1494L exm528470 6 30672567 [C/G] NM_014641 MDC1 EXON Missense_V1465L exm528484 6 30672923 [A/G] NM_014641 MDC1 EXON Missense_P1346L exm2243714 6 30672998 [T/G] NM_014641 MDC1 EXON Missense_T1321N exm528502 6 30673185 [A/G] NM_014641 MDC1 EXON Missense_P1259S exm528513 6 30673262 [T/C] NM_014641 MDC1 EXON Missense_N1233S exm528518 6 30673340 [A/G] NM_014641 MDC1 EXON Missense_L1207P exm528528 6 30673431 [A/G] NM_014641 MDC1 EXON Missense_P1177S exm528535 6 30673625 [A/G] NM_014641 MDC1 EXON Missense_S1112F exm528541 6 30673725 [A/G] NM_014641 MDC1 EXON Missense_R1079C exm-rs2269702 6 30675135 [T/C] NM_014641 MDC1 Silent exm528551 6 30675605 [T/G] NM_014641 MDC1 EXON Missense_R917S exm528557 6 30675830 [T/A] NM_014641 MDC1 EXON Missense_R842S exm528560 6 30675997 [T/C] NM_014641 MDC1 EXON Missense_G787R exm528568 6 30679197 [T/C] NM_014641 MDC1 EXON Missense_Q738R exm528573 6 30679445 [T/C] NM_014641 MDC1 EXON Synonymous_E709E exm-rs3094093 6 30679628 [T/A] NM_014641 MDC1 Silent exm528588 6 30679963 [A/C] NM_014641 MDC1 EXON Missense_S586A exm528596 6 30680111 [T/C] NM_014641 MDC1 EXON Missense_I536M exm528597 6 30680112 [A/G] NM_014641 MDC1 EXON Missense_I536T exm528599 6 30680124 [T/C] NM_014641 MDC1 EXON Missense_G532E exm528609 6 30680442 [A/G] NM_014641 MDC1 EXON Missense_I426T exm2120487 6 30680512 [C/G] NM_014641 MDC1 EXON Missense_D403H exm528616 6 30680562 [A/G] NM_014641 MDC1 EXON Missense_P386L exm2120488 6 30680595 [T/C] NM_014641 MDC1 EXON Missense_G375D exm528618 6 30680608 [T/C] NM_014641 MDC1 EXON Missense_E371K exm528630 6 30680721 [A/G] NM_014641 MDC1 EXON Missense_A333V exm528635 6 30680916 [T/C] NM_014641 MDC1 EXON Missense_R268K exm528636 6 30680968 [T/C] NM_014641 MDC1 EXON Missense_E251K exm528639 6 30681077 [T/G] NM_014641 MDC1 EXON Missense_F214L exm528640 6 30681090 [A/G] NM_014641 MDC1 EXON Missense_P210L exm2257730 6 30681101 [G/C] NM_014641 MDC1 EXON Synonymous_G206G exm528646 6 30681477 [A/G] NM_014641 MDC1 EXON Missense_R179C exm528648 6 30681697 [T/C] NM_014641 MDC1 EXON Missense_D134N exm528652 6 30681931 [T/C] NM_014641 MDC1 EXON Missense_V56I exm-rs6924270 6 30681980 [A/G] NM_014641 MDC1 Silent exm528656 6 30682856 [A/G] NM_014641 MDC1 EXON Missense_R33W exm-rs3132584 6 30688427 [T/G] NM_178014 TUBB Silent exm-rs25527 6 30690938 [T/C] NM_178014 TUBB Silent exm-rs9500864 6 30693232 [A/G] exm-rs3094127 6 30697447 [A/G] NM_005803 FLOT1 Silent exm528693 6 30697813 [T/C] NM_005803 FLOT1 EXON Missense_V414M exm528702 6 30698242 [A/G] NM_005803 FLOT1 EXON Missense_A351V exm-rs1064627 6 30698541 [A/G] NM_005803 FLOT1 Silent exm528709 6 30698826 [T/C] NM_005803 FLOT1 EXON Missense_V259M exm-rs9380182 6 30703625 [A/C] NM_005803 FLOT1 Silent exm-rs2535320 6 30704985 [T/C] NM_005803 FLOT1 Silent exm-rs3130660 6 30706361 [A/T] NM_005803 FLOT1 Silent exm528719 6 30708275 [A/G] NM_005803 FLOT1 EXON Missense_R190W exm528737 6 30709429 [A/G] NM_005803 FLOT1 EXON Missense_R58C exm-rs10947088 6 30709830 [T/C] NM_005803 FLOT1 Silent exm-rs17719 6 30711031 [T/C] NM_003897 IER3 EXON Silent exm-rs8512 6 30711357 [A/G] NM_003897 IER3 EXON Silent exm528754 6 30711805 [G/C] NM_003897 IER3 EXON Missense_A127P exm528765 6 30712202 [T/C] NM_003897 IER3 EXON Missense_G32S exm2120515 6 30712327 [A/G] NM_003897 IER3 EXON Silent exm-rs4713358 6 30716117 [T/G] exm-rs9262164 6 30717389 [C/G] exm-rs2535324 6 30718035 [A/C] exm-rs12202428 6 30719909 [A/G] exm-rs3129973 6 30721143 [T/C] exm-rs2394401 6 30724430 [T/C] exm-rs3095341 6 30726748 [T/C] exm-rs3131036 6 30728290 [A/G] exm-rs11966040 6 30729487 [T/G] exm-rs6926530 6 30730267 [A/G] exm-rs3094121 6 30730960 [T/C] exm-rs11963870 6 30735229 [A/G] exm-rs12526186 6 30736151 [T/C] exm-rs6912077 6 30739904 [A/G] exm-rs3130666 6 30740160 [A/G] exm-rs4248148 6 30742134 [A/G] exm-rs3130667 6 30743241 [A/G] exm-rs11757629 6 30744529 [A/C] exm-rs3130673 6 30746519 [T/G] exm-rs10947091 6 30747216 [T/C] exm-rs11755503 6 30747906 [A/C] exm-rs9468830 6 30749712 [T/G] exm-rs4713360 6 30753146 [A/G] exm-rs6920124 6 30756593 [T/C] exm-rs3131043 6 30758466 [A/G] exm-rs3131050 6 30760025 [T/C] exm-rs3094112 6 30761734 [T/C] exm-rs3131064 6 30763893 [T/C] exm-rs12660883 6 30764420 [T/C] exm-rs3129987 6 30766204 [T/C] exm-rs4639381 6 30766765 [G/C] exm-rs4587208 6 30767013 [A/G] exm-rs3129988 6 30769478 [T/C] exm-rs4711240 6 30773239 [T/C] exm-rs1264362 6 30776590 [C/G] exm-rs4327730 6 30780936 [T/C] exm-rs886424 6 30782002 [T/C] exm-rs2894046 6 30782105 [T/C] exm-rs9295924 6 30782361 [A/G] exm-rs4713380 6 30785273 [T/C] exm-rs1264353 6 30787762 [A/C] exm-rs3094111 6 30788191 [T/C] exm-rs1264352 6 30789647 [C/G] exm-rs6901761 6 30790798 [T/C] exm-rs4713390 6 30791971 [A/G] exm-rs4713391 6 30792235 [T/C] exm-rs915664 6 30794617 [T/C] exm-rs3130785 6 30796738 [T/C] exm-rs7749924 6 30797991 [T/C] exm-rs3094110 6 30799043 [T/C] exm-rs1264344 6 30800577 [T/C] exm-rs3130649 6 30803254 [A/T] exm-rs3095352 6 30805921 [T/C] exm-rs3130786 6 30807948 [A/G] exm-rs3130787 6 30809864 [A/G] exm-rs2535335 6 30812497 [A/G] exm-rs2535332 6 30813249 [T/C] exm-rs2394450 6 30817501 [A/G] exm-rs2250264 6 30821187 [A/G] exm-rs3095345 6 30822413 [T/C] exm-rs3130654 6 30823075 [G/C] exm-rs3130655 6 30823710 [T/A] exm-rs7772269 6 30825220 [A/C] exm-rs2844657 6 30829522 [A/G] exm-rs7761138 6 30830292 [A/C] exm-rs2535326 6 30832063 [T/C] exm-rs6916357 6 30833826 [T/C] exm-rs3095354 6 30836111 [T/C] exm-rs2844654 6 30838688 [T/G] exm-rs3130796 6 30840950 [T/C] exm-rs7746003 6 30842894 [A/T] exm-rs1264333 6 30844314 [T/C] exm-rs7756521 6 30848253 [T/C] exm-rs9295930 6 30849822 [A/G] exm-rs1264327 6 30850582 [A/G] exm-rs7757648 6 30851933 [A/G] NM_001954 DDR1 Silent exm-rs4618569 6 30855251 [A/G] NM_001954,NM_013993,NM_001202523 DDR1,DDR1,DDR1 Silent,Silent,Silent exm-rs1264323 6 30855907 [A/G] NM_001954,NM_013993,NM_001202523 DDR1,DDR1,DDR1 Silent,Silent,Silent exm528774 6 30856555 [A/G] NM_001954,NM_013993,NM_001202523,NM_001202522,NM_001202521,NM_013994 DDR1,DDR1,DDR1,DDR1,DDR1,DDR1 EXON Missense_S17G,Missense_S17G,Missense_S35G,Missense_S17G,Missense_S17G,Missense_S17G exm-rs1264322 6 30857894 [A/G] NM_001954,NM_013993,NM_001202523,NM_001202522,NM_001202521,NM_013994 DDR1,DDR1,DDR1,DDR1,DDR1,DDR1 Silent,Silent,Silent,Silent,Silent,Silent exm528791 6 30858846 [T/C] NM_001954,NM_013993,NM_001202523,NM_001202522,NM_001202521,NM_013994 DDR1,DDR1,DDR1,DDR1,DDR1,DDR1 EXON Missense_R172W,Missense_R172W,Missense_R190W,Missense_R172W,Missense_R172W,Missense_R172W exm528806 6 30859865 [T/C] NM_001954,NM_013993,NM_001202523,NM_001202522,NM_001202521,NM_013994 DDR1,DDR1,DDR1,DDR1,DDR1,DDR1 EXON Missense_P251L,Missense_P251L,Missense_P269L,Missense_P251L,Missense_P251L,Missense_P251L exm528818 6 30860175 [T/C] NM_001954,NM_013993,NM_001202523,NM_001202522,NM_001202521,NM_013994 DDR1,DDR1,DDR1,DDR1,DDR1,DDR1 EXON Missense_R319C,Missense_R319C,Missense_R337C,Missense_R319C,Missense_R319C,Missense_R319C exm528830 6 30860866 [T/C] NM_001954,NM_013993,NM_001202523,NM_001202522,NM_001202521,NM_013994 DDR1,DDR1,DDR1,DDR1,DDR1,DDR1 EXON Missense_P374L,Missense_P374L,Missense_P392L,Missense_P374L,Missense_P374L,Missense_P374L exm528842 6 30861184 [A/G] NM_001954,NM_013993,NM_001202523,NM_001202522,NM_001202521,NM_013994 DDR1,DDR1,DDR1,DDR1,DDR1,DDR1 EXON Missense_R444H,Missense_R444H,Missense_R462H,Missense_R444H,Missense_R444H,Missense_R444H exm-rs3132572 6 30861729 [A/G] NM_001954,NM_013993,NM_001202523,NM_001202522,NM_001202521,NM_013994 DDR1,DDR1,DDR1,DDR1,DDR1,DDR1 Silent,Silent,Silent,Silent,Silent,Silent exm528848 6 30862414 [A/G] NM_001954,NM_013993,NM_001202523,NM_001202522,NM_001202521,NM_013994 DDR1,DDR1,DDR1,DDR1,DDR1,DDR1 EXON Synonymous_P493P,Synonymous_P493P,Synonymous_P511P,Missense_R466H,Synonymous_P493P,Synonymous_P493P exm528849 6 30862423 [T/C] NM_001954,NM_013993,NM_001202523,NM_001202522,NM_001202521,NM_013994 DDR1,DDR1,DDR1,DDR1,DDR1,DDR1 EXON Synonymous_S496S,Synonymous_S496S,Synonymous_S514S,Missense_P469L,Synonymous_S496S,Synonymous_S496S exm528852 6 30862440 [A/G] NM_001954,NM_013993,NM_001202523,NM_001202522,NM_001202521,NM_013994 DDR1,DDR1,DDR1,DDR1,DDR1,DDR1 EXON Missense_N502S,Missense_N502S,Missense_N520S,Missense_M475V,Missense_N502S,Missense_N502S exm528857 6 30863207 [T/C] NM_001954,NM_013993,NM_001202523,NM_001202522,NM_001202521,NM_013994 DDR1,DDR1,DDR1,DDR1,DDR1,DDR1 EXON Silent,Missense_R514C,Silent,Silent,Silent,Missense_R514C exm2243728 6 30863228 [A/G] NM_001954,NM_013993,NM_001202523,NM_001202522,NM_001202521,NM_013994 DDR1,DDR1,DDR1,DDR1,DDR1,DDR1 EXON Silent,Missense_A521T,Silent,Silent,Silent,Missense_A521T exm-rs1264318 6 30863530 [C/G] NM_001954,NM_013993,NM_001202523,NM_001202522,NM_001202521,NM_013994 DDR1,DDR1,DDR1,DDR1,DDR1,DDR1 Silent,Silent,Silent,Silent,Silent,Silent exm-rs886422 6 30864279 [T/C] NM_001954,NM_013993,NM_001202523,NM_001202522,NM_001202521,NM_013994 DDR1,DDR1,DDR1,DDR1,DDR1,DDR1 Silent,Silent,Silent,Silent,Silent,Silent exm-rs2239517 6 30865115 [A/G] NM_001954,NM_013993,NM_001202523,NM_001202522,NM_001202521,NM_013994 DDR1,DDR1,DDR1,DDR1,DDR1,DDR1 Silent,Silent,Silent,Silent,Silent,Silent exm528886 6 30865148 [T/C] NM_001954,NM_013993,NM_001202523,NM_001202522,NM_001202521,NM_013994 DDR1,DDR1,DDR1,DDR1,DDR1,DDR1 EXON Silent,Silent,Silent,Silent,Silent,Missense_F670L exm528889 6 30865215 [C/G] NM_001954,NM_013993,NM_001202523,NM_001202522,NM_001202521,NM_013994 DDR1,DDR1,DDR1,DDR1,DDR1,DDR1 EXON Missense_R649P,Missense_R686P,Missense_R667P,Missense_R540P,Silent,Missense_R692P exm-rs2239518 6 30865725 [T/C] NM_001954,NM_013993,NM_001202523,NM_001202522,NM_001202521,NM_013994 DDR1,DDR1,DDR1,DDR1,DDR1,DDR1 Silent,Silent,Silent,Silent,Silent,Silent exm528908 6 30866675 [T/C] NM_001954,NM_013993,NM_001202523,NM_001202522,NM_001202521,NM_013994 DDR1,DDR1,DDR1,DDR1,DDR1,DDR1 EXON Missense_T784M,Missense_T821M,Missense_T802M,Missense_T675M,Silent,Missense_T827M exm528909 6 30866695 [T/G] NM_001954,NM_013993,NM_001202523,NM_001202522,NM_001202521,NM_013994 DDR1,DDR1,DDR1,DDR1,DDR1,DDR1 EXON Missense_A791S,Missense_A828S,Missense_A809S,Missense_A682S,Silent,Missense_A834S exm528916 6 30866810 [A/G] NM_001954,NM_013993,NM_001202523,NM_001202522,NM_001202521,NM_013994 DDR1,DDR1,DDR1,DDR1,DDR1,DDR1 EXON Missense_R829Q,Missense_R866Q,Missense_R847Q,Missense_R720Q,Silent,Missense_R872Q exm-rs8408 6 30867666 [T/C] NM_001954,NM_013993,NM_001202523,NM_001202522,NM_001202521,NM_013994 DDR1,DDR1,DDR1,DDR1,DDR1,DDR1 EXON Silent,Silent,Silent,Silent,Silent,Silent exm-rs9468845 6 30869593 [A/G] exm-rs2894054 6 30872274 [A/G] exm-rs3909130 6 30874165 [T/C] exm-rs3130780 6 30874308 [T/G] exm-rs2284176 6 30875622 [T/C] exm-rs1264309 6 30875899 [A/G] exm-rs916920 6 30877202 [T/C] NM_001517 GTF2H4 Silent exm2257731 6 30879001 [A/G] NM_001517 GTF2H4 EXON Synonymous_P209P exm528970 6 30879922 [A/G] NM_001517 GTF2H4 EXON Synonymous_T319T exm-rs1264308 6 30879987 [T/C] NM_001517 GTF2H4 Silent exm-rs3218819 6 30880097 [T/C] NM_001517 GTF2H4 Silent exm528976 6 30880156 [A/G] NM_001517 GTF2H4 EXON Missense_R337Q exm528985 6 30881122 [C/G] NM_001517 GTF2H4 EXON Missense_R392G exm528992 6 30881729 [A/G] NM_001517 GTF2H4 EXON Missense_R453H exm-rs1264303 6 30882513 [A/G] NM_001167733,NM_020442,NM_001167734 VARS2,VARS2,VARS2 Silent,Silent,Silent exm528999 6 30882636 [A/C] NM_001167733,NM_020442,NM_001167734 VARS2,VARS2,VARS2 EXON Silent,Missense_S8Y,Missense_S38Y exm529001 6 30882689 [T/C] NM_001167733,NM_020442,NM_001167734 VARS2,VARS2,VARS2 EXON Silent,Missense_H26Y,Missense_H56Y exm529002 6 30882717 [A/G] NM_001167733,NM_020442,NM_001167734 VARS2,VARS2,VARS2 EXON Silent,Missense_H35R,Missense_H65R exm529006 6 30882803 [A/G] NM_001167733,NM_020442,NM_001167734 VARS2,VARS2,VARS2 EXON Silent,Missense_G64R,Missense_G94R exm2120596 6 30883231 [A/G] NM_001167733,NM_020442,NM_001167734 VARS2,VARS2,VARS2 EXON Silent,Missense_Q128R,Missense_Q158R exm529013 6 30883561 [A/G] NM_001167733,NM_020442,NM_001167734 VARS2,VARS2,VARS2 EXON Missense_M1I,Missense_M141I,Missense_M171I exm529014 6 30883589 [T/C] NM_001167733,NM_020442,NM_001167734 VARS2,VARS2,VARS2 EXON Missense_S11P,Missense_S151P,Missense_S181P exm2257732 6 30885534 [A/G] NM_001167733,NM_020442,NM_001167734 VARS2,VARS2,VARS2 EXON Synonymous_V172V,Synonymous_V312V,Synonymous_V342V exm2274140 6 30885556 [T/G] NM_001167733,NM_020442,NM_001167734 VARS2,VARS2,VARS2 EXON Missense_V180F,Missense_V320F,Missense_V350F exm529049 6 30886682 [T/C] NM_001167733,NM_020442,NM_001167734 VARS2,VARS2,VARS2 EXON Missense_S215L,Missense_S355L,Missense_S385L exm-rs7738138 6 30887344 [T/C] NM_001167733,NM_020442,NM_001167734 VARS2,VARS2,VARS2 Silent,Silent,Silent exm529059 6 30887868 [A/G] NM_001167733,NM_020442,NM_001167734 VARS2,VARS2,VARS2 EXON Missense_A250T,Missense_A390T,Missense_A420T exm529064 6 30888161 [T/C] NM_001167733,NM_020442,NM_001167734 VARS2,VARS2,VARS2 EXON Missense_W309R,Missense_W449R,Missense_W479R exm529067 6 30888212 [A/G] NM_001167733,NM_020442,NM_001167734 VARS2,VARS2,VARS2 EXON Missense_S326G,Missense_S466G,Missense_S496G exm529068 6 30888503 [T/G] NM_001167733,NM_020442,NM_001167734 VARS2,VARS2,VARS2 EXON Nonsense_E346X,Nonsense_E486X,Nonsense_E516X exm529078 6 30889403 [A/C] NM_001167733,NM_020442,NM_001167734 VARS2,VARS2,VARS2 EXON Missense_A417D,Missense_A557D,Missense_A587D exm529088 6 30889995 [A/G] NM_001167733,NM_020442,NM_001167734 VARS2,VARS2,VARS2 EXON Missense_T497A,Missense_T637A,Missense_T667A exm529093 6 30890248 [T/C] NM_001167733,NM_020442,NM_001167734 VARS2,VARS2,VARS2 EXON Missense_R512W,Missense_R652W,Missense_R682W exm-rs885905 6 30890431 [A/G] NM_001167733,NM_020442,NM_001167734 VARS2,VARS2,VARS2 Silent,Silent,Silent exm529100 6 30890483 [T/G] NM_001167733,NM_020442,NM_001167734 VARS2,VARS2,VARS2 EXON Missense_V540L,Missense_V680L,Missense_V710L exm529103 6 30890535 [T/C] NM_001167733,NM_020442,NM_001167734 VARS2,VARS2,VARS2 EXON Missense_I557T,Missense_I697T,Missense_I727T exm-rs753725 6 30890871 [T/C] NM_001167733,NM_020442,NM_001167734 VARS2,VARS2,VARS2 Silent,Silent,Silent exm529110 6 30890988 [A/G] NM_001167733,NM_020442,NM_001167734 VARS2,VARS2,VARS2 EXON Missense_V625M,Missense_V765M,Missense_V795M exm529116 6 30891264 [A/C] NM_001167733,NM_020442,NM_001167734 VARS2,VARS2,VARS2 EXON Missense_N676K,Missense_N816K,Missense_N846K exm529124 6 30892215 [T/C] NM_001167733,NM_020442,NM_001167734 VARS2,VARS2,VARS2 EXON Missense_R711C,Missense_R851C,Missense_R881C exm529126 6 30892253 [C/G] NM_001167733,NM_020442,NM_001167734 VARS2,VARS2,VARS2 EXON Missense_E723D,Missense_E863D,Missense_E893D exm-rs2252760 6 30892377 [C/G] NM_001167733,NM_020442,NM_001167734 VARS2,VARS2,VARS2 Silent,Silent,Silent exm529132 6 30893054 [T/C] NM_001167733,NM_020442,NM_001167734 VARS2,VARS2,VARS2 EXON Missense_H753Y,Missense_H893Y,Missense_H923Y exm529135 6 30893127 [A/G] NM_001167733,NM_020442,NM_001167734 VARS2,VARS2,VARS2 EXON Missense_R777Q,Missense_R917Q,Missense_R947Q exm529140 6 30893675 [A/G] NM_001167733,NM_020442,NM_001167734 VARS2,VARS2,VARS2 EXON Missense_I854V,Missense_I994V,Missense_I1024V exm529147 6 30893887 [T/G] NM_001167733,NM_020442,NM_001167734 VARS2,VARS2,VARS2 EXON Missense_L891R,Missense_L1031R,Missense_L1061R exm529148 6 30893941 [A/G] NM_001167733,NM_020442,NM_001167734 VARS2,VARS2,VARS2 EXON Missense_R909Q,Missense_R1049Q,Missense_R1079Q exm-rs2532934 6 30894759 [A/G] exm-rs3873334 6 30896147 [A/G] exm-rs2532929 6 30897774 [A/G] exm-rs2253588 6 30899377 [G/C] NM_205854 SFTA2 Silent exm529159 6 30899524 [T/C] NM_205854 SFTA2 EXON Missense_N37S exm529161 6 30899571 [T/C] NM_205854 SFTA2 EXON Synonymous_G21G exm-rs2286655 6 30899746 [A/G] NM_205854 SFTA2 Silent exm-rs2253705 6 30900094 [T/C] exm-rs3131786 6 30901872 [C/G] exm-rs2844650 6 30902533 [T/C] exm-rs3132571 6 30905313 [A/G] exm-rs6933400 6 30907176 [T/C] exm-rs2844702 6 30912481 [A/G] NM_080870 DPCR1 Silent exm-rs2844700 6 30912900 [A/G] NM_080870 DPCR1 Silent exm-rs3132581 6 30913458 [A/G] NM_080870 DPCR1 Silent exm-rs2517451 6 30914751 [T/C] NM_080870 DPCR1 Silent exm-rs3130782 6 30914843 [T/C] NM_080870 DPCR1 Silent exm529174 6 30916645 [A/G] NM_080870 DPCR1 EXON Missense_R135Q exm529177 6 30916705 [A/G] NM_080870 DPCR1 EXON Missense_K155R exm529227 6 30919015 [A/G] NM_080870 DPCR1 EXON Missense_G925E exm529234 6 30919135 [A/G] NM_080870 DPCR1 EXON Missense_G965E exm529235 6 30919141 [T/C] NM_080870 DPCR1 EXON Missense_T967M exm529250 6 30919561 [A/G] NM_080870 DPCR1 EXON Missense_H1107R exm-rs2517449 6 30919701 [T/C] NM_080870 DPCR1 EXON Synonymous_L1154L exm529254 6 30919804 [T/C] NM_080870 DPCR1 EXON Missense_T1188M exm529255 6 30919846 [A/C] NM_080870 DPCR1 EXON Missense_T1202K exm529258 6 30919878 [C/G] NM_080870 DPCR1 EXON Missense_G1213R exm529264 6 30919983 [A/G] NM_080870 DPCR1 EXON Missense_V1248I exm529265 6 30919992 [A/G] NM_080870 DPCR1 EXON Missense_D1251N exm529266 6 30920086 [T/C] NM_080870 DPCR1 EXON Missense_T1282M exm529272 6 30920755 [A/C] NM_080870 DPCR1 EXON Missense_Y1348S exm2257733 6 30920774 [T/C] NM_080870 DPCR1 EXON Synonymous_R1354R exm-rs2240803 6 30920957 [A/G] NM_080870 DPCR1 EXON Silent exm-rs3757340 6 30921882 [T/C] NM_080870 DPCR1 EXON Silent exm-rs12212418 6 30924024 [T/C] exm-rs11753326 6 30925985 [T/C] exm-rs2429557 6 30928317 [A/T] exm-rs11969139 6 30930841 [A/G] exm-rs3131783 6 30932068 [A/G] exm-rs2844697 6 30932309 [T/C] exm-rs3095150 6 30932532 [T/C] exm-rs2254847 6 30933848 [T/A] exm-rs2255625 6 30940705 [A/G] exm-rs3132579 6 30940989 [T/C] exm-rs2517439 6 30942929 [A/G] exm-rs3131931 6 30945265 [T/A] exm-rs2844682 6 30946148 [A/G] exm-rs2517424 6 30949996 [T/A] exm-rs2517421 6 30951209 [G/C] exm529282 6 30951739 [A/G] NM_001010909 MUC21 EXON Missense_K2E exm529294 6 30954086 [T/C] NM_001010909 MUC21 EXON Missense_A45V exm529300 6 30954137 [A/T] NM_001010909 MUC21 EXON Missense_I62N exm529304 6 30954161 [A/G] NM_001010909 MUC21 EXON Missense_N70S exm2257735 6 30954201 [T/C] NM_001010909 MUC21 EXON Synonymous_T83T exm529307 6 30954207 [A/T] NM_001010909 MUC21 EXON Missense_S85R exm529309 6 30954242 [T/C] NM_001010909 MUC21 EXON Missense_T97I exm529313 6 30954278 [A/G] NM_001010909 MUC21 EXON Missense_E109G exm529402 6 30954774 [C/G] NM_001010909 MUC21 EXON Missense_E274D exm2243744 6 30954803 [T/C] NM_001010909 MUC21 EXON Missense_T284I exm529412 6 30954837 [T/G] NM_001010909 MUC21 EXON Missense_S295R exm529475 6 30955179 [C/G] NM_001010909 MUC21 EXON Missense_E409D exm529485 6 30955247 [T/C] NM_001010909 MUC21 EXON Missense_A432V exm-rs2844677 6 30955359 [A/G] NM_001010909 MUC21 EXON Synonymous_A469A exm-rs1634731 6 30955681 [A/G] NM_001010909 MUC21 Silent exm-rs3873342 6 30957766 [T/C] exm-rs2517409 6 30964393 [T/C] exm-rs2508016 6 30969527 [C/G] exm-rs1634717 6 30972589 [T/G] exm-rs1634718 6 30972865 [A/G] exm-rs2523915 6 30973358 [T/A] exm-rs2523921 6 30975090 [T/C] NM_001198815 MUC22 Silent exm-rs13191258 6 30978717 [T/C] NM_001198815 MUC22 Silent exm-rs7755364 6 30981715 [T/G] NM_001198815 MUC22 Silent exm-rs1634725 6 30982008 [T/A] NM_001198815 MUC22 Silent exm-rs1619376 6 30983326 [A/G] NM_001198815 MUC22 Silent exm-rs3871466 6 30983683 [T/C] NM_001198815 MUC22 Silent exm-rs3869096 6 30984404 [T/G] NM_001198815 MUC22 Silent exm-rs12198448 6 30992346 [T/C] NM_001198815 MUC22 Silent exm529502 6 30993377 [A/T] NM_001198815 MUC22 EXON Missense_S57T exm529503 6 30993419 [A/G] NM_001198815 MUC22 EXON Missense_T71A exm529505 6 30993440 [A/G] NM_001198815 MUC22 EXON Missense_A78T exm-rs2517554 6 30993499 [T/C] NM_001198815 MUC22 EXON Synonymous_S97S exm529508 6 30993533 [A/G] NM_001198815 MUC22 EXON Missense_R109G exm529509 6 30993567 [T/G] NM_001198815 MUC22 EXON Missense_G120V exm529510 6 30993590 [A/G] NM_001198815 MUC22 EXON Missense_I128V exm529511 6 30993635 [A/G] NM_001198815 MUC22 EXON Missense_I143V exm529513 6 30993776 [A/T] NM_001198815 MUC22 EXON Missense_T190S exm529516 6 30993813 [A/G] NM_001198815 MUC22 EXON Missense_S202N exm529518 6 30993866 [A/T] NM_001198815 MUC22 EXON Missense_T220S exm529519 6 30993880 [C/G] NM_001198815 MUC22 EXON Missense_E224D exm529520 6 30993954 [T/C] NM_001198815 MUC22 EXON Missense_T249M exm-rs2523897 6 30993958 [A/G] NM_001198815 MUC22 EXON Synonymous_A250A exm2243755 6 30994163 [A/G] NM_001198815 MUC22 EXON Missense_T319A exm529529 6 30994232 [A/G] NM_001198815 MUC22 EXON Missense_M342V exm529530 6 30994248 [C/G] NM_001198815 MUC22 EXON Missense_T347S exm529533 6 30994283 [A/G] NM_001198815 MUC22 EXON Missense_V359I exm529536 6 30994355 [A/G] NM_001198815 MUC22 EXON Missense_S383G exm529537 6 30994365 [A/C] NM_001198815 MUC22 EXON Missense_T386N exm529541 6 30994470 [C/G] NM_001198815 MUC22 EXON Missense_T421S exm529549 6 30994635 [T/C] NM_001198815 MUC22 EXON Missense_T476M exm529550 6 30994730 [A/G] NM_001198815 MUC22 EXON Missense_A508T exm529551 6 30994778 [A/G] NM_001198815 MUC22 EXON Missense_K524E exm529555 6 30995078 [A/G] NM_001198815 MUC22 EXON Missense_E624K exm529556 6 30995080 [C/G] NM_001198815 MUC22 EXON Missense_E624D exm529561 6 30995178 [T/C] NM_001198815 MUC22 EXON Missense_T657I exm529562 6 30995187 [T/C] NM_001198815 MUC22 EXON Missense_I660T exm529564 6 30995297 [A/G] NM_001198815 MUC22 EXON Missense_I697V exm529573 6 30995786 [A/G] NM_001198815 MUC22 EXON Missense_T860A exm529574 6 30995894 [T/A] NM_001198815 MUC22 EXON Missense_T896S exm529579 6 30996105 [T/C] NM_001198815 MUC22 EXON Missense_T966I exm529580 6 30996132 [T/C] NM_001198815 MUC22 EXON Missense_T975I exm529587 6 30996354 [T/C] NM_001198815 MUC22 EXON Missense_T1049I exm2243759 6 30996620 [C/G] NM_001198815 MUC22 EXON Missense_A1138P exm529601 6 30996839 [A/G] NM_001198815 MUC22 EXON Missense_E1211K exm2243763 6 30997199 [A/G] NM_001198815 MUC22 EXON Missense_A1331T exm529618 6 30997334 [A/G] NM_001198815 MUC22 EXON Missense_T1376A exm529626 6 30997667 [A/G] NM_001198815 MUC22 EXON Missense_T1487A exm2243767 6 30997767 [A/T] NM_001198815 MUC22 EXON Missense_I1520N exm529629 6 30997824 [T/C] NM_001198815 MUC22 EXON Missense_L1539P exm-rs4713422 6 30999902 [G/C] NM_001198815 MUC22 Silent exm529630 6 30999997 [T/C] NM_001198815 MUC22 EXON Missense_L1565P exm529631 6 31000005 [T/A] NM_001198815 MUC22 EXON Missense_S1568T exm2243768 6 31000042 [T/C] NM_001198815 MUC22 EXON Missense_T1580M exm-rs9468861 6 31000489 [T/C] NM_001198815 MUC22 Silent exm529639 6 31002527 [A/G] NM_001198815 MUC22 EXON Missense_N1712D exm529640 6 31002616 [T/C] NM_001198815 MUC22 EXON Synonymous_H1741H exm-rs4248154 6 31002616 [T/C] NM_001198815 MUC22 EXON Synonymous_H1741H exm-rs2844670 6 31005726 [A/G] exm-rs2517552 6 31007590 [T/C] exm-rs2517550 6 31008368 [T/C] exm-rs2508015 6 31010200 [A/G] exm-rs12528584 6 31011845 [T/C] exm-rs2517538 6 31013541 [G/C] exm-rs2844645 6 31015182 [A/G] exm-rs2523868 6 31016114 [T/C] exm-rs2517532 6 31018407 [A/G] exm-rs2394427 6 31019562 [A/G] exm-rs4713429 6 31021017 [G/C] exm-rs3873352 6 31022113 [G/C] NR_003948 HCG22 EXON Silent exm-rs9262628 6 31023148 [A/G] NR_003948 HCG22 Silent exm-rs9262632 6 31024808 [A/G] NR_003948 HCG22 Silent exm-rs2523849 6 31025051 [T/C] NR_003948 HCG22 Silent exm-rs9262636 6 31025848 [A/G] NR_003948 HCG22 Silent exm-rs2428514 6 31027516 [A/G] NR_003948 HCG22 EXON Silent exm-rs2517518 6 31028345 [T/C] exm-rs2517516 6 31028920 [T/C] exm-rs3906263 6 31031904 [A/G] exm-rs2844641 6 31037794 [T/C] exm-rs2517490 6 31038756 [T/G] exm-rs2523888 6 31040720 [T/G] exm-rs2523882 6 31042217 [T/C] exm-rs2249231 6 31043232 [A/G] exm-rs6941772 6 31048916 [C/G] exm-rs9263473 6 31050179 [A/G] exm-rs2517471 6 31052098 [C/G] exm-rs3130955 6 31054511 [A/C] exm-rs4947296 6 31058178 [T/C] exm-rs2517455 6 31059900 [T/C] exm-rs2517453 6 31060115 [T/C] exm-rs2535294 6 31062133 [A/G] exm-rs2517448 6 31062667 [T/C] exm-rs3130970 6 31065407 [T/C] exm-rs4713433 6 31068026 [A/C] exm-rs6457327 6 31074030 [A/C] exm-rs1064190 6 31075115 [T/G] exm-rs1265063 6 31077938 [A/G] exm-rs3734854 6 31078836 [A/G] exm529653 6 31079264 [T/C] NM_014070 C6orf15 EXON Missense_G291D exm529654 6 31079306 [T/C] NM_014070 C6orf15 EXON Missense_R277Q exm529655 6 31079307 [A/G] NM_014070 C6orf15 EXON Missense_R277W exm529660 6 31079417 [A/C] NM_014070 C6orf15 EXON Missense_G240V exm529670 6 31079643 [T/C] NM_014070 C6orf15 EXON Missense_K165E exm2120683 6 31079645 [C/G] NM_014070 C6orf15 EXON Missense_P164R exm529677 6 31079703 [C/G] NM_014070 C6orf15 EXON Missense_A145P exm529679 6 31079754 [G/C] NM_014070 C6orf15 EXON Missense_G128R exm529688 6 31079894 [A/G] NM_014070 C6orf15 EXON Missense_V81A exm529689 6 31079895 [T/C] NM_014070 C6orf15 EXON Missense_V81M exm529692 6 31079951 [T/C] NM_014070 C6orf15 EXON Missense_Q62R exm529696 6 31079994 [T/C] NM_014070 C6orf15 EXON Missense_G48R exm529698 6 31080009 [T/C] NM_014070 C6orf15 EXON Missense_N43D exm529699 6 31080016 [G/C] NM_014070 C6orf15 EXON Missense_L40F exm529700 6 31080030 [G/C] NM_014070 C6orf15 EXON Missense_V36L exm529708 6 31080320 [T/C] NM_014070 C6orf15 EXON Missense_V5M exm-rs2233969 6 31080432 [A/G] exm-rs2270190 6 31080586 [A/G] exm-rs2233966 6 31080859 [A/G] exm-rs1265048 6 31081409 [T/C] exm-rs3130977 6 31081989 [T/C] exm-rs3130553 6 31082285 [A/G] exm-rs1042149 6 31082960 [A/G] NM_014068,NM_001264 PSORS1C1,CDSN EXON Silent,Silent exm529718 6 31083813 [T/C] NM_014068,NM_001264 PSORS1C1,CDSN EXON Silent,Missense_N527D exm529728 6 31084034 [T/C] NM_014068,NM_001264 PSORS1C1,CDSN EXON Silent,Missense_S453N exm2257738 6 31084048 [A/G] NM_014068,NM_001264 PSORS1C1,CDSN EXON Silent,Synonymous_C448C exm529729 6 31084048 [A/G] NM_014068,NM_001264 PSORS1C1,CDSN EXON Silent,Synonymous_C448C exm-rs3130982 6 31084075 [C/G] NM_014068,NM_001264 PSORS1C1,CDSN EXON Silent,Synonymous_S439S exm529733 6 31084090 [T/G] NM_014068,NM_001264 PSORS1C1,CDSN EXON Silent,Missense_S434R exm529738 6 31084170 [A/C] NM_014068,NM_001264 PSORS1C1,CDSN EXON Silent,Missense_S408A exm529739 6 31084191 [T/C] NM_014068,NM_001264 PSORS1C1,CDSN EXON Silent,Missense_S401G exm529740 6 31084244 [T/C] NM_014068,NM_001264 PSORS1C1,CDSN EXON Silent,Missense_G383D exm529765 6 31084716 [A/G] NM_014068,NM_001264 PSORS1C1,CDSN EXON Silent,Missense_P226S exm529769 6 31084787 [A/G] NM_014068,NM_001264 PSORS1C1,CDSN EXON Silent,Missense_F202S exm529774 6 31084856 [T/C] NM_014068,NM_001264 PSORS1C1,CDSN EXON Silent,Missense_N179S exm529777 6 31084917 [T/C] NM_014068,NM_001264 PSORS1C1,CDSN EXON Silent,Missense_S159G exm529778 6 31084936 [C/G] NM_014068,NM_001264 PSORS1C1,CDSN EXON Silent,Missense_S152R exm529779 6 31084941 [T/A] NM_014068,NM_001264 PSORS1C1,CDSN EXON Silent,Missense_S151C exm529784 6 31084964 [T/C] NM_014068,NM_001264 PSORS1C1,CDSN EXON Silent,Missense_N143S exm529791 6 31085136 [T/C] NM_014068,NM_001264 PSORS1C1,CDSN EXON Silent,Missense_G86S exm529797 6 31085226 [A/G] NM_014068,NM_001264 PSORS1C1,CDSN EXON Silent,Missense_L56F exm529800 6 31085259 [G/C] NM_014068,NM_001264 PSORS1C1,CDSN EXON Silent,Missense_P45A exm529802 6 31085286 [T/C] NM_014068,NM_001264 PSORS1C1,CDSN EXON Silent,Missense_G36S exm-rs3094212 6 31085770 [A/G] NM_014068,NM_001264 PSORS1C1,CDSN Silent,Silent exm-rs3130991 6 31087354 [T/C] NM_014068,NM_001264 PSORS1C1,CDSN Silent,Silent exm529809 6 31088145 [A/T] NM_014068,NM_001264 PSORS1C1,CDSN EXON Silent,Missense_M18L exm-rs3094208 6 31090672 [A/G] NM_014068 PSORS1C1 Silent exm-rs3095312 6 31090837 [C/G] NM_014068 PSORS1C1 Silent exm-rs3778630 6 31091328 [A/G] NM_014068 PSORS1C1 Silent exm-rs3778638 6 31092124 [A/G] NM_014068 PSORS1C1 Silent exm-rs3095302 6 31093066 [A/G] NM_014068 PSORS1C1 Silent exm-rs3095301 6 31093356 [T/C] NM_014068 PSORS1C1 Silent exm-rs3131003 6 31093482 [A/G] NM_014068 PSORS1C1 EXON Silent exm-rs3815087 6 31093587 [A/G] NM_014068 PSORS1C1 EXON Silent exm-rs3130557 6 31094703 [T/C] NM_014068 PSORS1C1 Silent exm-rs9461647 6 31095672 [T/C] NM_014068 PSORS1C1 Silent exm-rs3130558 6 31097183 [G/C] NM_014068 PSORS1C1 Silent exm-rs3130559 6 31097301 [T/C] NM_014068 PSORS1C1 Silent exm-rs3823418 6 31100942 [A/G] NM_014068 PSORS1C1 Silent exm-rs4084091 6 31101401 [T/C] NM_014068 PSORS1C1 Silent exm-rs3130564 6 31101674 [T/C] NM_014068 PSORS1C1 Silent exm-rs1265100 6 31105310 [A/G] NM_014068 PSORS1C1 Silent exm-rs1265099 6 31105413 [A/G] NM_014068,NM_014069 PSORS1C1,PSORS1C2 EXON Silent,Silent exm-rs2074478 6 31105633 [T/C] NM_014068,NM_014069 PSORS1C1,PSORS1C2 EXON Silent,Silent exm-IND6-31213836 6 31105858 [D/I] NM_014068,NM_014069 PSORS1C1,PSORS1C2 EXON exm529832 6 31105891 [A/G] NM_014068,NM_014069 PSORS1C1,PSORS1C2 EXON Silent,Missense_L83P exm529833 6 31105900 [A/C] NM_014068,NM_014069 PSORS1C1,PSORS1C2 EXON Silent,Missense_G80V exm529834 6 31105910 [A/G] NM_014068,NM_014069 PSORS1C1,PSORS1C2 EXON Silent,Missense_P77S exm529835 6 31105928 [A/G] NM_014068,NM_014069 PSORS1C1,PSORS1C2 EXON Silent,Missense_R71C exm529841 6 31106051 [G/C] NM_014068,NM_014069 PSORS1C1,PSORS1C2 EXON Silent,Missense_P30A exm529842 6 31106065 [T/C] NM_014068,NM_014069 PSORS1C1,PSORS1C2 EXON Silent,Missense_G25D exm529846 6 31106236 [A/G] NM_014068,NM_014069 PSORS1C1,PSORS1C2 EXON Missense_G15S,Silent exm-rs3130573 6 31106268 [A/G] NM_014068,NM_014069 PSORS1C1,PSORS1C2 Silent,Silent exm529854 6 31106484 [C/G] NM_014068,NM_014069 PSORS1C1,PSORS1C2 EXON Missense_S32T,Silent exm529857 6 31106487 [C/G] NM_014068,NM_014069 PSORS1C1,PSORS1C2 EXON Missense_S33C,Silent exm529859 6 31106489 [A/G] NM_014068,NM_014069 PSORS1C1,PSORS1C2 EXON Missense_E34K,Silent exm529862 6 31106492 [A/G] NM_014068,NM_014069 PSORS1C1,PSORS1C2 EXON Missense_E35K,Silent exm529863 6 31106493 [A/G] NM_014068,NM_014069 PSORS1C1,PSORS1C2 EXON Missense_E35G,Silent exm529865 6 31106495 [A/T] NM_014068,NM_014069 PSORS1C1,PSORS1C2 EXON Missense_T36S,Silent exm529869 6 31106499 [A/G] NM_014068,NM_014069 PSORS1C1,PSORS1C2 EXON Missense_R37H,Silent exm529874 6 31106516 [T/C] NM_014068,NM_014069 PSORS1C1,PSORS1C2 EXON Missense_P43S,Silent exm529875 6 31106523 [A/G] NM_014068,NM_014069 PSORS1C1,PSORS1C2 EXON Missense_R45Q,Silent exm-rs1265095 6 31106643 [A/G] NM_014068,NM_014069 PSORS1C1,PSORS1C2 Silent,Silent exm529881 6 31106793 [T/C] NM_014068,NM_014069 PSORS1C1,PSORS1C2 EXON Silent,Missense_N4S exm529882 6 31106797 [A/G] NM_014068,NM_014069 PSORS1C1,PSORS1C2 EXON Silent,Missense_L3F exm2257739 6 31106893 [A/G] NM_014068,NM_014069 PSORS1C1,PSORS1C2 EXON Silent,Silent exm-rs3094663 6 31107087 [T/C] NM_014068,NM_014069 PSORS1C1,PSORS1C2 EXON Silent,Silent exm529885 6 31107422 [T/G] NM_014068 PSORS1C1 EXON Missense_A58S exm529887 6 31107447 [C/G] NM_014068 PSORS1C1 EXON Missense_S66C exm529890 6 31107648 [T/C] NM_014068 PSORS1C1 EXON Missense_P133L exm-rs7757012 6 31108562 [T/C] exm-rs1265086 6 31109882 [T/G] exm529897 6 31110391 [G/C] NM_001105563,NM_001105564,NM_019052 CCHCR1,CCHCR1,CCHCR1 EXON Missense_S829C,Missense_S865C,Missense_S776C exm529913 6 31111091 [A/T] NM_001105563,NM_001105564,NM_019052 CCHCR1,CCHCR1,CCHCR1 EXON Missense_Q720L,Missense_Q756L,Missense_Q667L exm529914 6 31111125 [A/G] NM_001105563,NM_001105564,NM_019052 CCHCR1,CCHCR1,CCHCR1 EXON Missense_R709C,Missense_R745C,Missense_R656C exm529915 6 31111148 [T/A] NM_001105563,NM_001105564,NM_019052 CCHCR1,CCHCR1,CCHCR1 EXON Missense_K701M,Missense_K737M,Missense_K648M exm-rs9263739 6 31111356 [T/C] NM_001105563,NM_001105564,NM_019052 CCHCR1,CCHCR1,CCHCR1 Silent,Silent,Silent exm529924 6 31112484 [T/C] NM_001105563,NM_001105564,NM_019052 CCHCR1,CCHCR1,CCHCR1 EXON Missense_R680Q,Missense_R716Q,Missense_R627Q exm529927 6 31112526 [T/C] NM_001105563,NM_001105564,NM_019052 CCHCR1,CCHCR1,CCHCR1 EXON Missense_R666Q,Missense_R702Q,Missense_R613Q exm-rs1265078 6 31112602 [C/G] NM_001105563,NM_001105564,NM_019052 CCHCR1,CCHCR1,CCHCR1 Silent,Silent,Silent exm529933 6 31112701 [A/G] NM_001105563,NM_001105564,NM_019052 CCHCR1,CCHCR1,CCHCR1 EXON Missense_R640W,Missense_R676W,Missense_R587W exm529934 6 31112737 [A/C] NM_001105563,NM_001105564,NM_019052 CCHCR1,CCHCR1,CCHCR1 EXON Missense_G628C,Missense_G664C,Missense_G575C exm529937 6 31112823 [T/C] NM_001105563,NM_001105564,NM_019052 CCHCR1,CCHCR1,CCHCR1 EXON Missense_K599R,Missense_K635R,Missense_K546R exm529943 6 31113026 [T/C] NM_001105563,NM_001105564,NM_019052 CCHCR1,CCHCR1,CCHCR1 EXON Missense_R562Q,Missense_R598Q,Missense_R509Q exm-rs3094225 6 31113052 [A/G] NM_001105563,NM_001105564,NM_019052 CCHCR1,CCHCR1,CCHCR1 EXON Synonymous_D553D,Synonymous_D589D,Synonymous_D500D exm529953 6 31113239 [G/C] NM_001105563,NM_001105564,NM_019052 CCHCR1,CCHCR1,CCHCR1 EXON Missense_Q539H,Missense_Q575H,Missense_Q486H exm-rs746647 6 31114182 [A/G] NM_001105563,NM_001105564,NM_019052 CCHCR1,CCHCR1,CCHCR1 Silent,Silent,Silent exm-rs2240066 6 31114335 [A/G] NM_001105563,NM_001105564,NM_019052 CCHCR1,CCHCR1,CCHCR1 Silent,Silent,Silent exm-rs2240064 6 31114573 [A/G] NM_001105563,NM_001105564,NM_019052 CCHCR1,CCHCR1,CCHCR1 Silent,Silent,Silent exm-rs2240061 6 31114848 [T/C] NM_001105563,NM_001105564,NM_019052 CCHCR1,CCHCR1,CCHCR1 Silent,Silent,Silent exm-rs3131012 6 31115441 [T/C] NM_001105563,NM_001105564,NM_019052 CCHCR1,CCHCR1,CCHCR1 Silent,Silent,Silent exm2257740 6 31116210 [A/G] NM_001105563,NM_001105564,NM_019052 CCHCR1,CCHCR1,CCHCR1 EXON Synonymous_L482L,Synonymous_L518L,Synonymous_L429L exm529969 6 31116245 [T/C] NM_001105563,NM_001105564,NM_019052 CCHCR1,CCHCR1,CCHCR1 EXON Missense_R470Q,Missense_R506Q,Missense_R417Q exm529970 6 31116246 [A/G] NM_001105563,NM_001105564,NM_019052 CCHCR1,CCHCR1,CCHCR1 EXON Missense_R470W,Missense_R506W,Missense_R417W exm529973 6 31116408 [T/C] NM_001105563,NM_001105564,NM_019052 CCHCR1,CCHCR1,CCHCR1 EXON Missense_R451H,Missense_R487H,Missense_R398H exm529978 6 31116502 [T/C] NM_001105563,NM_001105564,NM_019052 CCHCR1,CCHCR1,CCHCR1 EXON Missense_A420T,Missense_A456T,Missense_A367T exm-rs1265115 6 31117075 [A/C] NM_001105563,NM_001105564,NM_019052 CCHCR1,CCHCR1,CCHCR1 Silent,Silent,Silent exm529982 6 31117925 [T/C] NM_001105563,NM_001105564,NM_019052 CCHCR1,CCHCR1,CCHCR1 EXON Missense_R391Q,Missense_R427Q,Missense_R338Q exm-rs1265112 6 31118019 [T/C] NM_001105563,NM_001105564,NM_019052 CCHCR1,CCHCR1,CCHCR1 Silent,Silent,Silent exm529992 6 31118511 [T/G] NM_001105563,NM_001105564,NM_019052 CCHCR1,CCHCR1,CCHCR1 EXON Missense_E328D,Missense_E364D,Missense_E275D exm529999 6 31118844 [A/G] NM_001105563,NM_001105564,NM_019052 CCHCR1,CCHCR1,CCHCR1 EXON Missense_A250V,Missense_A286V,Missense_A197V exm530001 6 31118898 [A/T] NM_001105563,NM_001105564,NM_019052 CCHCR1,CCHCR1,CCHCR1 EXON Missense_L232Q,Missense_L268Q,Missense_L179Q exm-rs1265110 6 31119422 [T/C] NM_001105563,NM_001105564,NM_019052 CCHCR1,CCHCR1,CCHCR1 Silent,Silent,Silent exm-rs1265109 6 31119589 [T/G] NM_001105563,NM_001105564,NM_019052 CCHCR1,CCHCR1,CCHCR1 Silent,Silent,Silent exm-rs2073717 6 31122126 [C/G] NM_001105563,NM_001105564,NM_019052 CCHCR1,CCHCR1,CCHCR1 Silent,Silent,Silent exm530010 6 31122407 [A/G] NM_001105563,NM_001105564,NM_019052 CCHCR1,CCHCR1,CCHCR1 EXON Missense_R187W,Missense_R223W,Missense_R134W exm530014 6 31122466 [A/G] NM_001105563,NM_001105564,NM_019052 CCHCR1,CCHCR1,CCHCR1 EXON Missense_T167I,Missense_T203I,Missense_T114I exm530016 6 31122482 [A/G] NM_001105563,NM_001105564,NM_019052 CCHCR1,CCHCR1,CCHCR1 EXON Missense_R162W,Missense_R198W,Missense_R109W exm530018 6 31122500 [A/G] NM_001105563,NM_001105564,NM_019052 CCHCR1,CCHCR1,CCHCR1 EXON Missense_R156W,Missense_R192W,Missense_R103W exm530019 6 31122502 [T/C] NM_001105563,NM_001105564,NM_019052 CCHCR1,CCHCR1,CCHCR1 EXON Missense_R155Q,Missense_R191Q,Missense_R102Q exm-rs2073716 6 31122997 [G/C] NM_001105563,NM_001105564,NM_019052 CCHCR1,CCHCR1,CCHCR1 Silent,Silent,Silent exm530032 6 31124682 [T/C] NM_001105563,NM_001105564,NM_019052 CCHCR1,CCHCR1,CCHCR1 EXON Silent,Missense_R108Q,Missense_R19Q exm2243773 6 31124683 [A/G] NM_001105563,NM_001105564,NM_019052 CCHCR1,CCHCR1,CCHCR1 EXON Silent,Missense_R108W,Missense_R19W exm530036 6 31124836 [G/C] NM_001105563,NM_001105564,NM_019052 CCHCR1,CCHCR1,CCHCR1 EXON Missense_E83Q,Missense_E83Q,Silent exm530038 6 31124849 [T/C] NM_001105563,NM_001105564,NM_019052 CCHCR1,CCHCR1,CCHCR1 EXON Nonsense_W78X,Nonsense_W78X,Silent exm530048 6 31125257 [A/C] NM_001105563,NM_001105564,NM_019052 CCHCR1,CCHCR1,CCHCR1 EXON Nonsense_E41X,Nonsense_E41X,Silent exm530050 6 31125290 [G/C] NM_001105563,NM_001105564,NM_019052 CCHCR1,CCHCR1,CCHCR1 EXON Missense_G30R,Missense_G30R,Silent exm-rs720465 6 31125777 [A/C] NM_019052 CCHCR1 Silent exm530059 6 31127322 [A/G] NM_007109,NM_001077511 TCF19,TCF19 EXON Missense_G26R,Missense_G26R exm-rs6929434 6 31127947 [T/A] NM_007109,NM_001077511 TCF19,TCF19 Silent,Silent exm530067 6 31129265 [A/C] NM_007109,NM_001077511 TCF19,TCF19 EXON Missense_L94M,Missense_L94M exm530068 6 31129273 [C/G] NM_007109,NM_001077511 TCF19,TCF19 EXON Missense_L96F,Missense_L96F exm530069 6 31129310 [T/C] NM_007109,NM_001077511 TCF19,TCF19 EXON Missense_P109S,Missense_P109S exm530077 6 31129542 [A/G] NM_007109,NM_001077511 TCF19,TCF19 EXON Missense_R186Q,Missense_R186Q exm530081 6 31129616 [A/G] NM_007109,NM_001077511 TCF19,TCF19 EXON Missense_M211V,Missense_M211V exm530086 6 31129707 [T/C] NM_007109,NM_001077511 TCF19,TCF19 EXON Missense_P241L,Missense_P241L exm-rs2073723 6 31130078 [T/C] NM_007109,NM_001077511 TCF19,TCF19 Silent,Silent exm530092 6 31130268 [A/G] NM_007109,NM_001077511 TCF19,TCF19 EXON Missense_R271H,Missense_R271H exm530095 6 31130292 [T/C] NM_007109,NM_001077511 TCF19,TCF19 EXON Missense_A279V,Missense_A279V exm-rs1065461 6 31130502 [T/C] NM_007109,NM_001077511 TCF19,TCF19 EXON Silent,Silent exm-rs1419881 6 31130593 [A/G] NM_007109,NM_001077511 TCF19,TCF19 EXON Silent,Silent exm-rs3130933 6 31132085 [T/C] exm530130 6 31133808 [A/G] NM_203289,NM_001173531,NM_002701 POU5F1,POU5F1,POU5F1 EXON Silent,Silent,Missense_A141V exm-rs3130931 6 31134888 [T/C] NM_002701 POU5F1 Silent exm-rs3130501 6 31136453 [A/G] NM_002701 POU5F1 Silent exm-rs3130502 6 31136666 [A/G] NM_002701 POU5F1 Silent exm-rs3130503 6 31137165 [A/G] NM_002701 POU5F1 Silent exm-rs879882 6 31139452 [T/C] exm-rs1265159 6 31140047 [A/G] exm-rs885950 6 31140152 [A/C] exm-rs885948 6 31140532 [A/G] exm-rs2269713 6 31141127 [A/G] exm-rs887468 6 31141523 [T/C] NR_026816 PSORS1C3 EXON Silent exm-rs3094188 6 31142245 [A/C] NR_026816 PSORS1C3 Silent exm-rs9468877 6 31142903 [A/G] NR_026816 PSORS1C3 Silent exm-rs887466 6 31143511 [A/G] NR_026816 PSORS1C3 Silent exm-rs3131018 6 31143582 [A/C] NR_026816 PSORS1C3 Silent exm-rs1265155 6 31143694 [A/G] NR_026816 PSORS1C3 Silent exm-rs915660 6 31143835 [C/G] NR_026816 PSORS1C3 Silent exm-rs887464 6 31145920 [T/C] exm-rs4713438 6 31146846 [A/G] exm-rs3130457 6 31147194 [T/C] exm-rs6921663 6 31154620 [T/C] exm-rs1265181 6 31155785 [G/C] exm-rs7759909 6 31158689 [T/G] exm-rs1265180 6 31159345 [A/C] exm-rs4713447 6 31162963 [A/G] exm-rs3094609 6 31165566 [T/C] NR_026791 HCG27 EXON Silent exm-rs4122190 6 31167852 [A/G] NR_026791 HCG27 Silent exm-rs4122189 6 31167927 [T/C] NR_026791 HCG27 Silent exm-rs9263873 6 31170713 [T/C] NR_026791 HCG27 EXON Silent exm-rs2894181 6 31174527 [A/G] exm-rs3132506 6 31176226 [T/C] exm-rs3887152 6 31176335 [T/C] exm-rs4351302 6 31176921 [A/G] exm-rs3130952 6 31177915 [A/G] exm-rs3869109 6 31184196 [A/G] exm-rs1634703 6 31185262 [A/G] exm-rs3130467 6 31187075 [T/C] exm-rs3130517 6 31190303 [T/C] exm-rs12662501 6 31190850 [T/C] exm-rs6904669 6 31192796 [A/G] exm-rs6928399 6 31195218 [T/C] exm-rs3134782 6 31197633 [A/G] exm-rs3130940 6 31198213 [T/G] exm-rs7745906 6 31204008 [A/G] exm-rs3869115 6 31204694 [G/C] exm-rs3130685 6 31206206 [T/C] exm-rs3134768 6 31206844 [G/C] exm-rs2394895 6 31206979 [T/C] exm-rs3868082 6 31207692 [A/G] exm-rs3132499 6 31207920 [T/C] exm-rs3095250 6 31208340 [T/C] exm-rs3132496 6 31208610 [T/G] exm-rs3130688 6 31210216 [T/C] exm-rs3095245 6 31213902 [T/C] exm-rs3130412 6 31216262 [A/G] exm-rs3095254 6 31221668 [G/C] exm-rs2894196 6 31230111 [T/A] exm-rs7747738 6 31230924 [T/C] exm-rs2853961 6 31231989 [A/G] exm-rs3130542 6 31232111 [A/G] exm-rs2844623 6 31232543 [T/C] exm-rs2853950 6 31236175 [T/C] exm530179 6 31237124 [T/C] NM_001243042,NM_002117 HLA-C,HLA-C EXON Missense_T363A,Missense_T363A exm530187 6 31237272 [A/G] NM_001243042,NM_002117 HLA-C,HLA-C EXON Missense_A349V,Missense_A349V exm530206 6 31237760 [T/C] NM_001243042,NM_002117 HLA-C,HLA-C EXON Missense_C333Y,Missense_C333Y exm530219 6 31237779 [T/C] NM_001243042,NM_002117 HLA-C,HLA-C EXON Missense_V327M,Missense_V327M exm530228 6 31237835 [T/A] NM_001243042,NM_002117 HLA-C,HLA-C EXON Missense_I308N,Missense_I308N exm530271 6 31238253 [T/C] NM_001243042,NM_002117 HLA-C,HLA-C EXON Missense_K210R,Missense_K210R exm530272 6 31238259 [T/G] NM_001243042,NM_002117 HLA-C,HLA-C EXON Missense_P208H,Missense_P208H exm530363 6 31239417 [T/C] NM_001243042,NM_002117 HLA-C,HLA-C EXON Missense_S101N,Missense_S101N exm530364 6 31239430 [T/C] NM_001243042,NM_002117 HLA-C,HLA-C EXON Missense_A97T,Missense_A97T exm-rs2524094 6 31240041 [T/C] exm-rs2074488 6 31240431 [T/G] exm-rs7759127 6 31240988 [T/G] exm-rs6923313 6 31241370 [T/C] exm-rs2844621 6 31241537 [T/C] exm-rs3132486 6 31243170 [A/G] exm-rs2524074 6 31244021 [A/G] exm-rs2524070 6 31244520 [A/G] exm-rs2524069 6 31244789 [A/T] exm-rs6906846 6 31245736 [A/G] exm-rs7382297 6 31247067 [T/G] exm-rs4386816 6 31247135 [T/C] exm-rs9380234 6 31248568 [A/G] exm-rs2853939 6 31250642 [T/C] exm-rs2524054 6 31252396 [A/C] exm-rs12191877 6 31252925 [T/C] exm-rs9461684 6 31253444 [T/C] exm-rs2853933 6 31254088 [T/C] exm-rs2853931 6 31255007 [T/C] exm-rs2524050 6 31255541 [T/C] exm-rs2524044 6 31256753 [T/G] exm-rs2524040 6 31257625 [T/C] exm-rs9468925 6 31258837 [A/G] exm-rs2524163 6 31259579 [T/C] exm-rs2243868 6 31261276 [A/G] exm-rs3873379 6 31262169 [T/C] exm-rs2853926 6 31263051 [A/G] exm-rs2853925 6 31264922 [A/G] exm-rs2247056 6 31265490 [T/C] exm-rs3905495 6 31265539 [A/G] exm-rs2853922 6 31266190 [A/G] exm-rs2524089 6 31266522 [T/G] exm-rs6457374 6 31272261 [T/C] exm-rs7760988 6 31273030 [T/C] exm-rs364415 6 31273224 [A/G] exm-rs3873386 6 31273745 [T/C] exm-rs9264942 6 31274380 [T/C] exm-rs10484554 6 31274555 [T/C] exm-rs2524229 6 31275231 [T/G] exm-rs4947248 6 31302025 [T/C] exm-rs7453967 6 31314243 [T/G] exm-rs2507997 6 31314781 [A/G] exm-rs2156875 6 31317347 [T/C] exm-rs2844586 6 31318024 [A/G] exm-rs2442719 6 31320538 [T/C] exm-rs2596503 6 31320810 [A/G] exm-rs2596501 6 31321211 [T/C] exm-rs1058026 6 31321685 [A/C] NM_005514 HLA-B EXON Silent exm2243782 6 31322277 [T/C] NM_005514 HLA-B EXON Missense_V358M exm530430 6 31322303 [G/C] NM_005514 HLA-B EXON Missense_C349S exm-rs3819299 6 31322367 [T/G] NM_005514 HLA-B Silent exm530438 6 31322421 [T/G] NM_005514 HLA-B EXON Missense_S345Y exm-rs2523608 6 31322559 [A/G] NM_005514 HLA-B Silent exm530458 6 31322905 [T/C] NM_005514 HLA-B EXON Missense_M331V exm530461 6 31322911 [T/C] NM_005514 HLA-B EXON Missense_A329T exm530484 6 31323160 [C/G] NM_005514 HLA-B EXON Missense_E277Q exm530485 6 31323184 [T/C] NM_005514 HLA-B EXON Missense_A269T exm-rs2394985 6 31323557 [T/C] NM_005514 HLA-B Silent exm530532 6 31323974 [T/C] NM_005514 HLA-B EXON Missense_E197K exm530670 6 31324925 [A/G] NM_005514 HLA-B EXON Missense_M4T exm-rs9266247 6 31325756 [A/G] exm-rs2523590 6 31327064 [T/C] exm-rs2523586 6 31327435 [T/G] exm-rs1811197 6 31327660 [A/G] exm-rs2523578 6 31328542 [A/G] exm-rs2523567 6 31330015 [G/C] exm-rs2596548 6 31330546 [T/G] exm-rs2523554 6 31331829 [T/C] exm-rs2844580 6 31333303 [T/C] exm-rs2596574 6 31334174 [A/G] exm-rs2844575 6 31334945 [T/C] exm-rs2844573 6 31335454 [A/C] exm-rs7743761 6 31336100 [A/C] exm-rs2523535 6 31336250 [A/G] exm-rs2253907 6 31336870 [T/C] exm-rs2844559 6 31340075 [T/C] exm-rs2523644 6 31342484 [T/C] exm-rs6933050 6 31343632 [T/C] exm-rs2523638 6 31344273 [T/C] exm-rs2844542 6 31347274 [G/C] exm-rs2844533 6 31350802 [A/G] exm-rs2442752 6 31351764 [T/C] exm-rs6903496 6 31352774 [A/G] exm-rs2844529 6 31353593 [A/G] exm-rs2523483 6 31353792 [T/G] exm-rs13437082 6 31354560 [T/C] exm-rs4711269 6 31354819 [T/C] exm-rs2596560 6 31355318 [T/C] exm-rs2523480 6 31355702 [G/C] exm-rs2853969 6 31356574 [A/G] exm-rs7751505 6 31360255 [A/C] exm-rs7771971 6 31360341 [T/C] exm-rs2523473 6 31361897 [A/C] exm-rs2523467 6 31362930 [T/C] exm-rs2251396 6 31364707 [A/G] exm-rs2523459 6 31365308 [T/G] exm-rs4349859 6 31365787 [A/G] exm-rs2596542 6 31366595 [T/C] exm-rs2844523 6 31368588 [A/G] NR_036523,NR_036524 MICA,MICA Silent,Silent exm-rs3763288 6 31370367 [A/G] NR_036523,NR_036524 MICA,MICA Silent,Silent exm-rs9380254 6 31378335 [G/C] NR_036523,NR_036524,NM_001177519,NM_000247 MICA,MICA,MICA,MICA EXON Silent,Silent,Missense_R29P,Missense_R29P exm-rs1063632 6 31378510 [A/G] NR_036523,NR_036524,NM_001177519,NM_000247 MICA,MICA,MICA,MICA EXON Silent,Silent,Synonymous_R87R,Synonymous_R87R exm530696 6 31378575 [A/G] NR_036523,NR_036524,NM_001177519,NM_000247 MICA,MICA,MICA,MICA Silent,Silent,Silent,Silent exm530701 6 31378932 [A/G] NR_036523,NR_036524,NM_001177519,NM_000247 MICA,MICA,MICA,MICA EXON Silent,Silent,Missense_G137R,Missense_G137R exm2263673 6 31378965 [A/G] NR_036523,NR_036524,NM_001177519,NM_000247 MICA,MICA,MICA,MICA EXON Silent,Silent,Missense_E148K,Missense_E148K exm530705 6 31379016 [A/G] NR_036523,NR_036524,NM_001177519,NM_000247 MICA,MICA,MICA,MICA EXON Silent,Silent,Missense_V165I,Missense_V165I exm530706 6 31379043 [A/G] NR_036523,NR_036524,NM_001177519,NM_000247 MICA,MICA,MICA,MICA EXON Silent,Silent,Missense_M174V,Missense_M174V exm530707 6 31379059 [T/A] NR_036523,NR_036524,NM_001177519,NM_000247 MICA,MICA,MICA,MICA EXON Silent,Silent,Missense_H179L,Missense_H179L exm530708 6 31379109 [A/G] NR_036523,NR_036524,NM_001177519,NM_000247 MICA,MICA,MICA,MICA EXON Silent,Silent,Missense_E196K,Missense_E196K exm530709 6 31379115 [A/G] NR_036523,NR_036524,NM_001177519,NM_000247 MICA,MICA,MICA,MICA EXON Silent,Silent,Missense_G198S,Missense_G198S exm530710 6 31379118 [A/G] NR_036523,NR_036524,NM_001177519,NM_000247 MICA,MICA,MICA,MICA EXON Silent,Silent,Missense_V199I,Missense_V199I exm530711 6 31379134 [C/G] NR_036523,NR_036524,NM_001177519,NM_000247 MICA,MICA,MICA,MICA EXON Silent,Silent,Missense_T204R,Missense_T204R exm-rs2853977 6 31379304 [A/T] NR_036523,NR_036524,NM_001177519,NM_000247 MICA,MICA,MICA,MICA Silent,Silent,Silent,Silent exm2120836 6 31380146 [T/G] NR_036523,NR_036524,NM_001177519,NM_000247 MICA,MICA,MICA,MICA EXON Silent,Silent,Missense_S313A,Missense_S313A exm2120837 6 31380153 [T/C] NR_036523,NR_036524,NM_001177519,NM_000247 MICA,MICA,MICA,MICA EXON Silent,Silent,Missense_V315A,Missense_V315A exm530731 6 31380194 [T/C] NR_036523,NR_036524,NM_001177519,NM_000247 MICA,MICA,MICA,MICA EXON Silent,Silent,Missense_C329R,Synonymous_Y327Y exm530732 6 31380198 [T/C] NR_036523,NR_036524,NM_001177519,NM_000247 MICA,MICA,MICA,MICA EXON Silent,Silent,Missense_P330L,Missense_R329C exm-rs2256183 6 31380529 [A/G] NR_036523,NR_036524,NM_001177519,NM_000247 MICA,MICA,MICA,MICA Silent,Silent,Silent,Silent exm530736 6 31382882 [A/C] NR_036523,NR_036524,NM_001177519,NM_000247 MICA,MICA,MICA,MICA EXON Silent,Silent,Silent,Missense_A373D exm530737 6 31382893 [A/G] NR_036523,NR_036524,NM_001177519,NM_000247 MICA,MICA,MICA,MICA EXON Silent,Silent,Silent,Missense_T377A exm-rs2848713 6 31384479 [A/G] exm-rs2596530 6 31387373 [A/G] exm-rs2844513 6 31388214 [A/G] exm-rs10223421 6 31390055 [T/G] exm-rs4418214 6 31391401 [T/C] exm-rs2516472 6 31394700 [A/G] exm-rs3093960 6 31403518 [T/C] exm-rs2516449 6 31404061 [G/C] exm-rs7772549 6 31407643 [T/C] exm-rs2524276 6 31408265 [A/C] exm-rs3869132 6 31410948 [T/C] exm-rs9765960 6 31413000 [A/G] exm-rs2516464 6 31416156 [A/G] exm-rs3128982 6 31417191 [A/G] exm-rs2596460 6 31417510 [A/G] exm-rs2523694 6 31417872 [A/G] exm-rs3131622 6 31420500 [T/G] exm-rs2263316 6 31421297 [A/G] exm-rs2596480 6 31425985 [T/C] exm-rs2523685 6 31426256 [G/C] exm-rs2254618 6 31427139 [T/A] exm-rs6930572 6 31428169 [A/G] exm-rs2596472 6 31428967 [A/G] exm-rs2596473 6 31430799 [T/G] exm-rs2255221 6 31431691 [T/G] NR_040662 HCP5 EXON Silent exm-rs11752262 6 31431757 [A/G] NR_040662 HCP5 EXON Silent exm-rs2395029 6 31431780 [T/G] NR_040662 HCP5 EXON Silent exm-rs2284178 6 31432125 [T/C] NR_040662 HCP5 EXON Silent exm-rs11759988 6 31432861 [T/C] NR_040662 HCP5 EXON Silent exm-rs2244546 6 31435833 [C/G] exm-rs2523676 6 31435991 [T/C] exm-rs2859448 6 31436273 [T/C] exm-rs2523674 6 31436789 [A/G] exm-rs2395031 6 31437305 [A/G] exm-rs2244839 6 31438368 [A/G] exm-rs1055569 6 31440082 [T/C] NR_002812 HCG26 EXON Silent exm-rs2516440 6 31440497 [A/G] exm-rs4413654 6 31441349 [A/G] exm-rs6940467 6 31442137 [A/G] exm-rs2844503 6 31442731 [T/A] exm-rs12660382 6 31443323 [T/C] exm-rs2523656 6 31444048 [C/G] exm-rs2844502 6 31445216 [A/G] exm-rs2248462 6 31446796 [A/G] exm-rs2523651 6 31448154 [A/G] exm-rs3099844 6 31448976 [A/C] exm-rs2523647 6 31449778 [A/G] exm-rs2523708 6 31451279 [T/C] exm-rs3132469 6 31456567 [A/G] exm-rs3094009 6 31457178 [T/C] exm-rs2507964 6 31458157 [T/C] exm-rs3130922 6 31461089 [A/G] exm-rs2516408 6 31463491 [A/G] exm-rs6916394 6 31464050 [T/C] exm-rs4713468 6 31470875 [A/T] NM_005931 MICB Silent exm-rs2855812 6 31472720 [T/G] NM_005931 MICB Silent exm530791 6 31473546 [A/G] NM_005931 MICB EXON Missense_N75D exm530792 6 31473561 [A/G] NM_005931 MICB EXON Missense_K80E exm530805 6 31474043 [T/C] NM_005931 MICB EXON Missense_S150L exm530818 6 31474820 [T/C] NM_005931 MICB EXON Missense_T212I exm530836 6 31475183 [T/C] NM_005931 MICB EXON Missense_A300V exm530840 6 31475241 [T/A] NM_005931 MICB EXON Nonsense_C319X exm-rs3132468 6 31475486 [T/C] NM_005931 MICB Silent exm-rs3131635 6 31476134 [A/G] NM_005931 MICB Silent exm-rs2844498 6 31476854 [T/C] NM_005931 MICB Silent exm-rs2246618 6 31478986 [T/C] exm-rs2844496 6 31480398 [T/C] exm-rs2246871 6 31481146 [A/C] exm-rs2516399 6 31481299 [A/G] exm-rs2516398 6 31481526 [T/G] exm-rs2844494 6 31483415 [A/C] exm-rs2516489 6 31488038 [T/C] exm-rs3130637 6 31488145 [A/G] exm-rs4959079 6 31488879 [T/C] exm-rs3132454 6 31489644 [A/G] exm-rs3093992 6 31491131 [A/C] exm-rs3095226 6 31492025 [A/C] exm-rs2734574 6 31493888 [A/T] exm530859 6 31496834 [T/C] NM_001011700 MCCD1 EXON Missense_R15C exm530862 6 31496915 [A/G] NM_001011700 MCCD1 EXON Missense_E42K exm530863 6 31496921 [A/G] NM_001011700 MCCD1 EXON Missense_T44A exm530864 6 31496925 [A/G] NM_001011700 MCCD1 EXON Missense_S45N exm530865 6 31496949 [T/C] NM_001011700 MCCD1 EXON Missense_T53M exm-rs3130055 6 31497399 [T/C] NM_001011700 MCCD1 Silent exm-rs3115537 6 31497835 [C/G] NM_001011700 MCCD1 EXON Silent exm-rs3093978 6 31498497 [A/C] NM_080598,NR_037852,NM_004640,NR_037853 DDX39B,DDX39B,DDX39B,ATP6V1G2-DDX39B Silent,Silent,Silent,Silent exm-rs11796 6 31501212 [A/T] NM_080598,NR_037852,NM_004640,NR_037853 DDX39B,DDX39B,DDX39B,ATP6V1G2-DDX39B Silent,Silent,Silent,Silent exm-rs1055388 6 31501737 [T/C] NM_080598,NR_037852,NM_004640,NR_037853 DDX39B,DDX39B,DDX39B,ATP6V1G2-DDX39B Silent,Silent,Silent,Silent exm-rs3131628 6 31502767 [T/C] NM_080598,NR_037852,NM_004640,NR_037853 DDX39B,DDX39B,DDX39B,ATP6V1G2-DDX39B Silent,Silent,Silent,Silent exm-rs1129640 6 31506624 [T/C] NM_080598,NR_037852,NM_004640,NR_037853 DDX39B,DDX39B,DDX39B,ATP6V1G2-DDX39B EXON Synonymous_V116V,Silent,Synonymous_V116V,Silent exm-rs2071596 6 31506691 [A/G] NM_080598,NR_037852,NM_004640,NR_037853 DDX39B,DDX39B,DDX39B,ATP6V1G2-DDX39B Silent,Silent,Silent,Silent exm-rs2523512 6 31506801 [A/G] NM_080598,NR_037852,NM_004640,NR_037853 DDX39B,DDX39B,DDX39B,ATP6V1G2-DDX39B Silent,Silent,Silent,Silent exm-rs2239709 6 31507447 [T/C] NM_080598,NR_037852,NM_004640,NR_037853 DDX39B,DDX39B,DDX39B,ATP6V1G2-DDX39B Silent,Silent,Silent,Silent exm-rs3130059 6 31509284 [G/C] NM_080598,NR_037852,NM_004640,NR_037853 DDX39B,DDX39B,DDX39B,ATP6V1G2-DDX39B Silent,Silent,Silent,Silent exm-rs2239528 6 31510105 [A/G] NM_080598,NR_037852,NM_004640,NR_037853 DDX39B,DDX39B,DDX39B,ATP6V1G2-DDX39B EXON Silent,Silent,Silent,Silent exm-rs2251824 6 31511857 [A/G] NR_037853 ATP6V1G2-DDX39B Silent exm-rs2071594 6 31512720 [C/G] NR_037853,NM_138282,NM_130463,NM_001204078 ATP6V1G2-DDX39B,ATP6V1G2,ATP6V1G2,ATP6V1G2 EXON Silent,Silent,Silent,Silent exm-rs2071593 6 31512799 [A/G] NR_037853,NM_138282,NM_130463,NM_001204078 ATP6V1G2-DDX39B,ATP6V1G2,ATP6V1G2,ATP6V1G2 EXON Silent,Silent,Silent,Silent exm530951 6 31513199 [A/G] NR_037853,NM_138282,NM_130463,NM_001204078 ATP6V1G2-DDX39B,ATP6V1G2,ATP6V1G2,ATP6V1G2 EXON Silent,Missense_R74W,Missense_R115W,Missense_R75W exm530954 6 31513268 [A/G] NR_037853,NM_138282,NM_130463,NM_001204078 ATP6V1G2-DDX39B,ATP6V1G2,ATP6V1G2,ATP6V1G2 EXON Silent,Nonsense_R51X,Nonsense_R92X,Nonsense_R52X exm-rs2239705 6 31513402 [A/G] NR_037853,NM_138282,NM_130463,NM_001204078 ATP6V1G2-DDX39B,ATP6V1G2,ATP6V1G2,ATP6V1G2 Silent,Silent,Silent,Silent exm-rs2071592 6 31515340 [A/T] NM_001144963,NM_001144962 NFKBIL1,NFKBIL1 Silent,Silent exm-rs7738380 6 31518015 [A/G] NM_001144963,NM_001144962,NM_001144961,NM_005007 NFKBIL1,NFKBIL1,NFKBIL1,NFKBIL1 Silent,Silent,Silent,Silent exm-rs6916921 6 31520426 [T/C] NM_001144963,NM_001144962,NM_001144961,NM_005007 NFKBIL1,NFKBIL1,NFKBIL1,NFKBIL1 Silent,Silent,Silent,Silent exm-rs2857605 6 31524851 [T/C] NM_001144963,NM_001144962,NM_001144961,NM_005007 NFKBIL1,NFKBIL1,NFKBIL1,NFKBIL1 Silent,Silent,Silent,Silent exm-rs2239707 6 31525319 [T/C] NM_001144963,NM_001144962,NM_001144961,NM_005007 NFKBIL1,NFKBIL1,NFKBIL1,NFKBIL1 Silent,Silent,Silent,Silent exm530981 6 31525912 [T/C] NM_001144963,NM_001144962,NM_001144961,NM_005007 NFKBIL1,NFKBIL1,NFKBIL1,NFKBIL1 EXON Missense_R186C,Missense_R201C,Missense_R209C,Missense_R224C exm530984 6 31525973 [A/G] NM_001144963,NM_001144962,NM_001144961,NM_005007 NFKBIL1,NFKBIL1,NFKBIL1,NFKBIL1 EXON Missense_R206Q,Missense_R221Q,Missense_R229Q,Missense_R244Q exm530986 6 31525994 [A/G] NM_001144963,NM_001144962,NM_001144961,NM_005007 NFKBIL1,NFKBIL1,NFKBIL1,NFKBIL1 EXON Missense_R213Q,Missense_R228Q,Missense_R236Q,Missense_R251Q exm530990 6 31526080 [A/G] NM_001144963,NM_001144962,NM_001144961,NM_005007 NFKBIL1,NFKBIL1,NFKBIL1,NFKBIL1 EXON Missense_G242R,Missense_G257R,Missense_G265R,Missense_G280R exm-rs4947324 6 31528130 [T/C] exm-rs7762619 6 31531310 [T/G] exm-rs2857602 6 31533378 [A/G] exm-rs2009658 6 31538244 [C/G] exm-rs2516312 6 31539435 [A/G] exm-rs909253 6 31540313 [A/G] NM_001159740,NM_000595 LTA,LTA Silent,Silent exm531009 6 31540556 [T/C] NM_001159740,NM_000595 LTA,LTA EXON Missense_C13R,Missense_C13R exm531010 6 31540577 [T/C] NM_001159740,NM_000595 LTA,LTA EXON Missense_L20F,Missense_L20F exm531018 6 31540784 [A/C] NM_001159740,NM_000595 LTA,LTA EXON Missense_T60N,Missense_T60N exm-rs1799964 6 31542308 [T/C] exm-rs1800630 6 31542476 [A/C] exm-rs1800750 6 31542963 [A/G] exm-rs1800629 6 31543031 [A/G] exm-rs361525 6 31543101 [A/G] exm-rs3093662 6 31544189 [A/G] NM_000594 TNF Silent exm531047 6 31544562 [T/C] NM_000594 TNF EXON Missense_P84L exm531059 6 31545193 [A/T] NM_000594 TNF EXON Missense_I194N exm-rs3093665 6 31545391 [A/C] NM_000594 TNF EXON Silent exm-rs769177 6 31547611 [T/C] exm531067 6 31548586 [T/C] NM_009588,NM_002341 LTB,LTB EXON Silent,Missense_Q212R exm531072 6 31548856 [A/G] NM_009588,NM_002341 LTB,LTB EXON Silent,Missense_A122V exm531076 6 31549357 [A/G] NM_009588,NM_002341 LTB,LTB EXON Synonymous_G71G,Missense_L87F exm531082 6 31549407 [T/C] NM_009588,NM_002341 LTB,LTB EXON Missense_G55S,Missense_G70E exm2257743 6 31549625 [A/C] NM_009588,NM_002341 LTB,LTB EXON Silent,Synonymous_T58T exm531123 6 31555483 [C/G] NM_205838,NR_029462,NM_205839,NR_029461,NM_205837,NM_007161,NM_001166538,NM_205840 LST1,LST1,LST1,LST1,LST1,LST1,LST1,LST1 EXON Silent,Silent,Missense_A29P,Silent,Missense_A29P,Missense_A29P,Silent,Missense_A29P exm531132 6 31556295 [A/G] NM_205838,NR_029462,NM_205839,NR_029461,NM_205837,NM_007161,NM_001166538,NM_205840 LST1,LST1,LST1,LST1,LST1,LST1,LST1,LST1 EXON Missense_A15T,Silent,Missense_A46T,Silent,Missense_G45D,Missense_A53T,Missense_A22T,Missense_G38D exm531147 6 31556928 [A/C] NM_001145466,NM_147130 NCR3,NCR3 EXON Silent,Missense_R174S exm531154 6 31557381 [A/G] NM_001145466,NM_147130,NM_001145467 NCR3,NCR3,NCR3 EXON Missense_L140F,Missense_L140F,Missense_L140F exm531155 6 31557393 [T/C] NM_001145466,NM_147130,NM_001145467 NCR3,NCR3,NCR3 EXON Missense_A136T,Missense_A136T,Missense_A136T exm531160 6 31557625 [T/A] NM_001145466,NM_147130,NM_001145467 NCR3,NCR3,NCR3 EXON Missense_C108S,Missense_C108S,Missense_C108S exm531161 6 31557628 [T/C] NM_001145466,NM_147130,NM_001145467 NCR3,NCR3,NCR3 EXON Missense_V107M,Missense_V107M,Missense_V107M exm531163 6 31557640 [T/C] NM_001145466,NM_147130,NM_001145467 NCR3,NCR3,NCR3 EXON Missense_A103T,Missense_A103T,Missense_A103T exm531164 6 31557660 [T/C] NM_001145466,NM_147130,NM_001145467 NCR3,NCR3,NCR3 EXON Missense_R96Q,Missense_R96Q,Missense_R96Q exm531166 6 31557696 [T/C] NM_001145466,NM_147130,NM_001145467 NCR3,NCR3,NCR3 EXON Missense_R84H,Missense_R84H,Missense_R84H exm531168 6 31557786 [A/G] NM_001145466,NM_147130,NM_001145467 NCR3,NCR3,NCR3 EXON Missense_T54M,Missense_T54M,Missense_T54M exm531173 6 31557891 [A/C] NM_001145466,NM_147130,NM_001145467 NCR3,NCR3,NCR3 EXON Missense_L19R,Missense_L19R,Missense_L19R exm-rs4947328 6 31561747 [A/G] exm-rs2515920 6 31562615 [A/T] exm-rs2844480 6 31564821 [T/C] exm-rs2857596 6 31567422 [T/G] exm-rs2857595 6 31568469 [A/G] exm-rs2844479 6 31572956 [A/C] exm-rs9348876 6 31575276 [T/C] exm-rs2844477 6 31578772 [T/C] exm-rs3132451 6 31582025 [C/G] exm531181 6 31583111 [A/G] NM_004847,NM_001623 AIF1,AIF1 EXON Silent,Missense_S2N exm531186 6 31583312 [A/G] NM_004847,NM_001623 AIF1,AIF1 EXON Silent,Missense_G14R exm531187 6 31583313 [A/G] NM_004847,NM_001623 AIF1,AIF1 EXON Silent,Missense_G14E exm531191 6 31583479 [A/T] NM_004847,NM_001623 AIF1,AIF1 EXON Silent,Missense_D40E exm2270462 6 31583827 [T/G] NM_004847,NM_001623,NM_032955 AIF1,AIF1,AIF1 EXON Silent,Silent,Silent exm531199 6 31583931 [T/C] NM_004847,NM_001623,NM_032955 AIF1,AIF1,AIF1 EXON Missense_R15W,Silent,Silent exm531208 6 31584119 [A/G] NM_004847,NM_001623,NM_032955 AIF1,AIF1,AIF1 EXON Synonymous_P77P,Silent,Silent exm2120941 6 31584180 [A/C] NM_004847,NM_001623,NM_032955 AIF1,AIF1,AIF1 EXON Missense_L98I,Missense_L86I,Missense_L32I exm-rs2857597 6 31585000 [T/A] exm-rs2857697 6 31585219 [T/C] exm-rs2736176 6 31587561 [C/G] exm-rs2857694 6 31587870 [T/A] exm-rs2844472 6 31589676 [A/G] NM_004638,NM_080686 PRRC2A,PRRC2A Silent,Silent exm-rs3130070 6 31591808 [A/G] NM_004638,NM_080686 PRRC2A,PRRC2A Silent,Silent exm2243813 6 31592275 [A/G] NM_004638,NM_080686 PRRC2A,PRRC2A EXON Missense_V147I,Missense_V147I exm531243 6 31593041 [A/G] NM_004638,NM_080686 PRRC2A,PRRC2A EXON Missense_R186K,Missense_R186K exm531250 6 31593320 [T/C] NM_004638,NM_080686 PRRC2A,PRRC2A EXON Missense_P231S,Missense_P231S exm531251 6 31593323 [T/C] NM_004638,NM_080686 PRRC2A,PRRC2A EXON Missense_R232W,Missense_R232W exm531255 6 31593369 [A/G] NM_004638,NM_080686 PRRC2A,PRRC2A EXON Missense_R247H,Missense_R247H exm531266 6 31593823 [A/G] NM_004638,NM_080686 PRRC2A,PRRC2A EXON Missense_R289Q,Missense_R289Q exm-rs2736171 6 31595487 [A/G] NM_004638,NM_080686 PRRC2A,PRRC2A Silent,Silent exm531287 6 31595657 [A/G] NM_004638,NM_080686 PRRC2A,PRRC2A EXON Missense_R469Q,Missense_R469Q exm531299 6 31595795 [T/C] NM_004638,NM_080686 PRRC2A,PRRC2A EXON Missense_P515L,Missense_P515L exm531302 6 31595882 [A/C] NM_004638,NM_080686 PRRC2A,PRRC2A EXON Missense_T544K,Missense_T544K exm531303 6 31595926 [T/C] NM_004638,NM_080686 PRRC2A,PRRC2A EXON Missense_P559S,Missense_P559S exm-rs2736165 6 31596675 [A/G] NM_004638,NM_080686 PRRC2A,PRRC2A Silent,Silent exm531315 6 31597512 [C/G] NM_004638,NM_080686 PRRC2A,PRRC2A EXON Missense_P715R,Missense_P715R exm-rs2736163 6 31597708 [T/C] NM_004638,NM_080686 PRRC2A,PRRC2A Silent,Silent exm531327 6 31598523 [T/C] NM_004638,NM_080686 PRRC2A,PRRC2A EXON Missense_R804C,Missense_R804C exm531335 6 31599035 [A/G] NM_004638,NM_080686 PRRC2A,PRRC2A EXON Missense_R862H,Missense_R862H exm2243814 6 31599224 [T/G] NM_004638,NM_080686 PRRC2A,PRRC2A EXON Missense_R925L,Missense_R925L exm531345 6 31599251 [A/G] NM_004638,NM_080686 PRRC2A,PRRC2A EXON Missense_R934H,Missense_R934H exm531349 6 31599370 [G/C] NM_004638,NM_080686 PRRC2A,PRRC2A EXON Missense_E974Q,Missense_E974Q exm2120994 6 31599623 [A/G] NM_004638,NM_080686 PRRC2A,PRRC2A EXON Missense_R1058Q,Missense_R1058Q exm531361 6 31599760 [T/C] NM_004638,NM_080686 PRRC2A,PRRC2A EXON Missense_R1104W,Missense_R1104W exm531364 6 31599904 [A/C] NM_004638,NM_080686 PRRC2A,PRRC2A EXON Missense_R1152S,Missense_R1152S exm2257745 6 31600032 [G/C] NM_004638,NM_080686 PRRC2A,PRRC2A EXON Synonymous_P1194P,Synonymous_P1194P exm531375 6 31600106 [A/C] NM_004638,NM_080686 PRRC2A,PRRC2A EXON Missense_S1219Y,Missense_S1219Y exm531377 6 31600141 [A/G] NM_004638,NM_080686 PRRC2A,PRRC2A EXON Missense_N1231D,Missense_N1231D exm2243816 6 31600241 [A/G] NM_004638,NM_080686 PRRC2A,PRRC2A EXON Missense_R1264Q,Missense_R1264Q exm531383 6 31600297 [A/G] NM_004638,NM_080686 PRRC2A,PRRC2A EXON Missense_A1283T,Missense_A1283T exm531384 6 31600304 [G/C] NM_004638,NM_080686 PRRC2A,PRRC2A EXON Missense_G1285A,Missense_G1285A exm531385 6 31600312 [G/C] NM_004638,NM_080686 PRRC2A,PRRC2A EXON Missense_E1288Q,Missense_E1288Q exm531398 6 31600639 [T/C] NM_004638,NM_080686 PRRC2A,PRRC2A EXON Missense_R1397W,Missense_R1397W exm531401 6 31600664 [T/C] NM_004638,NM_080686 PRRC2A,PRRC2A EXON Missense_A1405V,Missense_A1405V exm531402 6 31600670 [A/G] NM_004638,NM_080686 PRRC2A,PRRC2A EXON Missense_S1407N,Missense_S1407N exm531414 6 31601179 [T/C] NM_004638,NM_080686 PRRC2A,PRRC2A EXON Missense_P1448L,Missense_P1448L exm531420 6 31601344 [T/C] NM_004638,NM_080686 PRRC2A,PRRC2A EXON Missense_L1503P,Missense_L1503P exm531430 6 31601735 [A/G] NM_004638,NM_080686 PRRC2A,PRRC2A EXON Missense_R1563Q,Missense_R1563Q exm531437 6 31602074 [G/C] NM_004638,NM_080686 PRRC2A,PRRC2A EXON Missense_P1594R,Missense_P1594R exm-rs2242657 6 31602489 [T/C] NM_004638,NM_080686 PRRC2A,PRRC2A Silent,Silent exm531453 6 31602654 [T/C] NM_004638,NM_080686 PRRC2A,PRRC2A EXON Missense_P1687L,Missense_P1687L exm531456 6 31602680 [A/G] NM_004638,NM_080686 PRRC2A,PRRC2A EXON Missense_V1696I,Missense_V1696I exm531464 6 31602967 [A/G] NM_004638,NM_080686 PRRC2A,PRRC2A EXON Missense_R1740H,Missense_R1740H exm531470 6 31603189 [A/G] NM_004638,NM_080686 PRRC2A,PRRC2A EXON Missense_V1774M,Missense_V1774M exm531473 6 31603408 [T/C] NM_004638,NM_080686 PRRC2A,PRRC2A EXON Missense_S1808F,Missense_S1808F exm531477 6 31603491 [A/G] NM_004638,NM_080686 PRRC2A,PRRC2A EXON Missense_V1836I,Missense_V1836I exm531480 6 31603525 [A/G] NM_004638,NM_080686 PRRC2A,PRRC2A EXON Missense_Q1847R,Missense_Q1847R exm-rs2261033 6 31603591 [A/G] NM_004638,NM_080686 PRRC2A,PRRC2A Silent,Silent exm-rs11229 6 31603770 [A/G] NM_004638,NM_080686 PRRC2A,PRRC2A EXON Synonymous_Q1856Q,Synonymous_Q1856Q exm2121014 6 31604011 [A/G] NM_004638,NM_080686 PRRC2A,PRRC2A EXON Missense_G1884S,Missense_G1884S exm531492 6 31604044 [T/G] NM_004638,NM_080686 PRRC2A,PRRC2A EXON Missense_L1895V,Missense_L1895V exm531493 6 31604074 [T/C] NM_004638,NM_080686 PRRC2A,PRRC2A EXON Missense_S1905P,Missense_S1905P exm531494 6 31604291 [A/G] NM_004638,NM_080686 PRRC2A,PRRC2A EXON Missense_R1947H,Missense_R1947H exm531502 6 31604577 [T/C] NM_004638,NM_080686 PRRC2A,PRRC2A EXON Missense_P2001L,Missense_P2001L exm531503 6 31604591 [T/C] NM_004638,NM_080686 PRRC2A,PRRC2A EXON Missense_P2006S,Missense_P2006S exm531511 6 31604684 [T/C] NM_004638,NM_080686 PRRC2A,PRRC2A EXON Missense_P2037S,Missense_P2037S exm2243818 6 31604819 [T/C] NM_004638,NM_080686 PRRC2A,PRRC2A EXON Synonymous_L2050L,Synonymous_L2050L exm531516 6 31604894 [T/C] NM_004638,NM_080686 PRRC2A,PRRC2A EXON Missense_R2075W,Missense_R2075W exm531519 6 31605016 [T/C] NM_004638,NM_080686 PRRC2A,PRRC2A EXON Missense_F2083S,Missense_F2083S exm531525 6 31605084 [A/G] NM_004638,NM_080686 PRRC2A,PRRC2A EXON Missense_V2106I,Missense_V2106I exm-rs2736155 6 31605199 [G/C] NM_004638,NM_080686 PRRC2A,PRRC2A Silent,Silent exm-rs743400 6 31607111 [A/G] NM_001199697,NM_001098534,NM_080703,NM_080702,NM_004639,NM_001199698 BAG6,BAG6,BAG6,BAG6,BAG6,BAG6 Silent,Silent,Silent,Silent,Silent,Silent exm531558 6 31608031 [A/G] NM_001199697,NM_001098534,NM_080703,NM_080702,NM_004639,NM_001199698 BAG6,BAG6,BAG6,BAG6,BAG6,BAG6 EXON Missense_P854L,Missense_P1028L,Missense_P1028L,Missense_P1028L,Missense_P1034L,Missense_P1028L exm531566 6 31608595 [T/C] NM_001199697,NM_001098534,NM_080703,NM_080702,NM_004639,NM_001199698 BAG6,BAG6,BAG6,BAG6,BAG6,BAG6 EXON Missense_V808I,Missense_V934I,Missense_V934I,Missense_V934I,Missense_V940I,Missense_V934I exm531577 6 31609166 [T/C] NM_001199697,NM_001098534,NM_080703,NM_080702,NM_004639,NM_001199698 BAG6,BAG6,BAG6,BAG6,BAG6,BAG6 EXON Missense_I703V,Missense_I829V,Missense_I829V,Missense_I829V,Missense_I835V,Missense_I829V exm-rs755714 6 31609813 [T/C] NM_001199697,NM_001098534,NM_080703,NM_080702,NM_004639,NM_001199698 BAG6,BAG6,BAG6,BAG6,BAG6,BAG6 Silent,Silent,Silent,Silent,Silent,Silent exm2257746 6 31610082 [A/G] NM_001199697,NM_001098534,NM_080703,NM_080702,NM_004639,NM_001199698 BAG6,BAG6,BAG6,BAG6,BAG6,BAG6 EXON Silent,Synonymous_G678G,Synonymous_G678G,Synonymous_G678G,Synonymous_G684G,Synonymous_G678G exm-rs1077394 6 31610384 [T/C] NM_001199697,NM_001098534,NM_080703,NM_080702,NM_004639,NM_001199698 BAG6,BAG6,BAG6,BAG6,BAG6,BAG6 Silent,Silent,Silent,Silent,Silent,Silent exm-rs1077393 6 31610529 [A/G] NM_001199697,NM_001098534,NM_080703,NM_080702,NM_004639,NM_001199698 BAG6,BAG6,BAG6,BAG6,BAG6,BAG6 Silent,Silent,Silent,Silent,Silent,Silent exm531592 6 31610673 [A/G] NM_001199697,NM_001098534,NM_080703,NM_080702,NM_004639,NM_001199698 BAG6,BAG6,BAG6,BAG6,BAG6,BAG6 EXON Silent,Missense_S623F,Missense_S623F,Missense_S623F,Missense_S629F,Missense_S623F exm531593 6 31610686 [A/G] NM_001199697,NM_001098534,NM_080703,NM_080702,NM_004639,NM_001199698 BAG6,BAG6,BAG6,BAG6,BAG6,BAG6 EXON Silent,Missense_S619P,Missense_S619P,Missense_S619P,Missense_S625P,Missense_S619P exm-rs760293 6 31611777 [T/C] NM_001199697,NM_001098534,NM_080703,NM_080702,NM_004639,NM_001199698 BAG6,BAG6,BAG6,BAG6,BAG6,BAG6 Silent,Silent,Silent,Silent,Silent,Silent exm-rs2077102 6 31611840 [A/C] NM_001199697,NM_001098534,NM_080703,NM_080702,NM_004639,NM_001199698 BAG6,BAG6,BAG6,BAG6,BAG6,BAG6 Silent,Silent,Silent,Silent,Silent,Silent exm-rs2242656 6 31614102 [T/C] NM_001199697,NM_001098534,NM_080703,NM_080702,NM_004639,NM_001199698 BAG6,BAG6,BAG6,BAG6,BAG6,BAG6 Silent,Silent,Silent,Silent,Silent,Silent exm531639 6 31614286 [A/G] NM_001199697,NM_001098534,NM_080703,NM_080702,NM_004639,NM_001199698 BAG6,BAG6,BAG6,BAG6,BAG6,BAG6 EXON Missense_A268V,Missense_A268V,Missense_A268V,Missense_A268V,Missense_A274V,Missense_A268V exm-rs2844463 6 31615167 [A/G] NM_001199697,NM_001098534,NM_080703,NM_080702,NM_004639,NM_001199698 BAG6,BAG6,BAG6,BAG6,BAG6,BAG6 Silent,Silent,Silent,Silent,Silent,Silent exm531640 6 31615374 [A/G] NM_001199697,NM_001098534,NM_080703,NM_080702,NM_004639,NM_001199698 BAG6,BAG6,BAG6,BAG6,BAG6,BAG6 EXON Missense_A261V,Missense_A261V,Missense_A261V,Missense_A261V,Missense_A267V,Missense_A261V exm531648 6 31615591 [A/G] NM_001199697,NM_001098534,NM_080703,NM_080702,NM_004639,NM_001199698 BAG6,BAG6,BAG6,BAG6,BAG6,BAG6 EXON Missense_P189S,Missense_P189S,Missense_P189S,Missense_P189S,Missense_P195S,Missense_P189S exm-rs805303 6 31616366 [A/G] NM_001199697,NM_001098534,NM_080703,NM_080702,NM_004639,NM_001199698 BAG6,BAG6,BAG6,BAG6,BAG6,BAG6 Silent,Silent,Silent,Silent,Silent,Silent exm531650 6 31616462 [A/G] NM_001199697,NM_001098534,NM_080703,NM_080702,NM_004639,NM_001199698 BAG6,BAG6,BAG6,BAG6,BAG6,BAG6 EXON Missense_R182W,Missense_R182W,Missense_R182W,Missense_R182W,Missense_R182W,Missense_R182W exm531651 6 31616491 [A/G] NM_001199697,NM_001098534,NM_080703,NM_080702,NM_004639,NM_001199698 BAG6,BAG6,BAG6,BAG6,BAG6,BAG6 EXON Missense_M172T,Missense_M172T,Missense_M172T,Missense_M172T,Missense_M172T,Missense_M172T exm531652 6 31616506 [A/C] NM_001199697,NM_001098534,NM_080703,NM_080702,NM_004639,NM_001199698 BAG6,BAG6,BAG6,BAG6,BAG6,BAG6 EXON Missense_V167G,Missense_V167G,Missense_V167G,Missense_V167G,Missense_V167G,Missense_V167G exm-rs805301 6 31618121 [A/C] NM_001199697,NM_001098534,NM_080703,NM_080702,NM_004639,NM_001199698 BAG6,BAG6,BAG6,BAG6,BAG6,BAG6 Silent,Silent,Silent,Silent,Silent,Silent exm-rs3130050 6 31618761 [A/G] NM_001199697,NM_001098534,NM_080703,NM_080702,NM_004639,NM_001199698 BAG6,BAG6,BAG6,BAG6,BAG6,BAG6 Silent,Silent,Silent,Silent,Silent,Silent exm-rs3117583 6 31619576 [A/G] NM_001199697,NM_001098534,NM_080703,NM_080702,NM_004639,NM_001199698 BAG6,BAG6,BAG6,BAG6,BAG6,BAG6 Silent,Silent,Silent,Silent,Silent,Silent exm-rs3117582 6 31620520 [T/G] NM_001256169,NR_045828 APOM,APOM Silent,Silent exm-rs805298 6 31621095 [T/G] NM_001256169,NR_045828 APOM,APOM Silent,Silent exm531669 6 31623834 [A/G] NM_001256169,NR_045828,NM_019101 APOM,APOM,APOM EXON Silent,Silent,Missense_T31A exm-rs805264 6 31623873 [A/G] NM_001256169,NR_045828,NM_019101 APOM,APOM,APOM Silent,Silent,Silent exm531682 6 31625473 [A/G] NM_001256169,NR_045828,NM_019101 APOM,APOM,APOM EXON Missense_A100T,Silent,Missense_A172T exm-rs707921 6 31625541 [A/C] NM_001256169,NR_045828,NM_019101 APOM,APOM,APOM Silent,Silent,Silent exm531696 6 31626904 [G/C] NM_021184 C6orf47 EXON Missense_W274S exm531697 6 31626938 [A/G] NM_021184 C6orf47 EXON Missense_R263W exm531704 6 31627091 [A/G] NM_021184 C6orf47 EXON Missense_R212C exm531707 6 31627183 [T/A] NM_021184 C6orf47 EXON Missense_N181I exm531709 6 31627234 [A/G] NM_021184 C6orf47 EXON Missense_A164V exm531711 6 31627273 [T/C] NM_021184 C6orf47 EXON Missense_R151H exm531717 6 31627449 [G/C] NM_021184 C6orf47 EXON Missense_K92N exm531720 6 31627523 [T/C] NM_021184 C6orf47 EXON Missense_G68R exm531724 6 31627654 [A/G] NM_021184 C6orf47 EXON Missense_P24L exm531725 6 31627667 [T/C] NM_021184 C6orf47 EXON Missense_M20V exm-rs805262 6 31628733 [T/C] exm-rs11965323 6 31629638 [T/G] NM_001199237,NM_001199239,NM_033177,NM_001199238,NM_001199240 GPANK1,GPANK1,GPANK1,GPANK1,GPANK1 EXON Silent,Silent,Silent,Silent,Silent exm-rs7029 6 31629953 [A/G] NM_001199237,NM_001199239,NM_033177,NM_001199238,NM_001199240 GPANK1,GPANK1,GPANK1,GPANK1,GPANK1 EXON Silent,Silent,Silent,Silent,Silent exm-rs7992 6 31630241 [T/C] NM_001199237,NM_001199239,NM_033177,NM_001199238,NM_001199240 GPANK1,GPANK1,GPANK1,GPANK1,GPANK1 EXON Synonymous_R291R,Synonymous_R291R,Synonymous_R291R,Synonymous_R291R,Synonymous_R291R exm531739 6 31630392 [A/G] NM_001199237,NM_001199239,NM_033177,NM_001199238,NM_001199240 GPANK1,GPANK1,GPANK1,GPANK1,GPANK1 EXON Missense_S241L,Missense_S241L,Missense_S241L,Missense_S241L,Missense_S241L exm531740 6 31630410 [A/G] NM_001199237,NM_001199239,NM_033177,NM_001199238,NM_001199240 GPANK1,GPANK1,GPANK1,GPANK1,GPANK1 EXON Missense_A235V,Missense_A235V,Missense_A235V,Missense_A235V,Missense_A235V exm-rs805259 6 31631377 [A/G] NM_001199237,NM_001199239,NM_033177,NM_001199238,NM_001199240 GPANK1,GPANK1,GPANK1,GPANK1,GPANK1 Silent,Silent,Silent,Silent,Silent exm531753 6 31631921 [A/G] NM_001199237,NM_001199239,NM_033177,NM_001199238,NM_001199240 GPANK1,GPANK1,GPANK1,GPANK1,GPANK1 EXON Missense_A112V,Missense_A112V,Missense_A112V,Missense_A112V,Missense_A112V exm531764 6 31632113 [A/G] NM_001199237,NM_001199239,NM_033177,NM_001199238,NM_001199240 GPANK1,GPANK1,GPANK1,GPANK1,GPANK1 EXON Missense_I48T,Missense_I48T,Missense_I48T,Missense_I48T,Missense_I48T exm531765 6 31632134 [A/C] NM_001199237,NM_001199239,NM_033177,NM_001199238,NM_001199240 GPANK1,GPANK1,GPANK1,GPANK1,GPANK1 EXON Missense_R41L,Missense_R41L,Missense_R41L,Missense_R41L,Missense_R41L exm-rs2295665 6 31632686 [T/C] NM_001199237,NM_001199239,NM_033177,NM_001199238,NM_001199240 GPANK1,GPANK1,GPANK1,GPANK1,GPANK1 EXON Silent,Silent,Silent,Silent,Silent exm-rs805257 6 31634193 [A/G] NM_001320 CSNK2B Silent exm-rs14365 6 31635710 [T/C] NM_001320 CSNK2B EXON Synonymous_Y46Y exm-rs4569 6 31637807 [T/C] NM_001320 CSNK2B EXON Silent exm-rs805268 6 31638178 [A/C] exm531797 6 31638728 [A/G] NM_021221 LY6G5B EXON Missense_M1V exm531806 6 31638984 [C/G] NM_021221 LY6G5B EXON Missense_S37C exm-rs2142234 6 31639129 [A/G] NM_021221 LY6G5B Silent exm531812 6 31639691 [T/C] NM_021221 LY6G5B EXON Missense_R80C exm2243825 6 31639740 [C/G] NM_021221 LY6G5B EXON Missense_A96G exm531815 6 31639757 [A/G] NM_021221 LY6G5B EXON Missense_D102N exm531821 6 31639950 [T/C] NM_021221 LY6G5B EXON Missense_L166P exm531822 6 31639979 [T/C] NM_021221 LY6G5B EXON Missense_R176C exm-rs707919 6 31641139 [A/G] exm-rs2280800 6 31646398 [A/C] NM_025262 LY6G5C Silent exm531836 6 31646986 [A/G] NM_025262 LY6G5C EXON Missense_R61C exm531837 6 31647001 [A/G] NM_025262 LY6G5C EXON Missense_F56L exm531838 6 31647027 [T/C] NM_025262 LY6G5C EXON Missense_N47S exm2243828 6 31648069 [T/C] NM_025262 LY6G5C EXON Missense_V28I exm-rs805290 6 31648403 [T/C] exm-rs9267536 6 31651194 [A/C] exm531853 6 31655295 [A/G] NR_033489,NR_033488,NM_021160,NM_001177515 ABHD16A,ABHD16A,ABHD16A,ABHD16A EXON Silent,Silent,Missense_R525W,Missense_R492W exm531858 6 31655512 [T/C] NR_033489,NR_033488,NM_021160,NM_001177515 ABHD16A,ABHD16A,ABHD16A,ABHD16A EXON Silent,Silent,Missense_I485V,Missense_I452V exm531860 6 31655667 [C/G] NR_033489,NR_033488,NM_021160,NM_001177515 ABHD16A,ABHD16A,ABHD16A,ABHD16A EXON Silent,Silent,Missense_V461L,Missense_V428L exm531874 6 31656517 [A/G] NR_033489,NR_033488,NM_021160,NM_001177515 ABHD16A,ABHD16A,ABHD16A,ABHD16A EXON Silent,Silent,Synonymous_N411N,Synonymous_N378N exm2257747 6 31656559 [A/G] NR_033489,NR_033488,NM_021160,NM_001177515 ABHD16A,ABHD16A,ABHD16A,ABHD16A EXON Silent,Silent,Synonymous_G397G,Synonymous_G364G exm531875 6 31656559 [A/G] NR_033489,NR_033488,NM_021160,NM_001177515 ABHD16A,ABHD16A,ABHD16A,ABHD16A EXON Silent,Silent,Synonymous_G397G,Synonymous_G364G exm-rs915653 6 31657047 [A/G] NR_033489,NR_033488,NM_021160,NM_001177515 ABHD16A,ABHD16A,ABHD16A,ABHD16A Silent,Silent,Silent,Silent exm531897 6 31659454 [T/C] NR_033489,NR_033488,NM_021160,NM_001177515 ABHD16A,ABHD16A,ABHD16A,ABHD16A EXON Silent,Silent,Missense_N249D,Missense_N216D exm531898 6 31659457 [A/T] NR_033489,NR_033488,NM_021160,NM_001177515 ABHD16A,ABHD16A,ABHD16A,ABHD16A EXON Silent,Silent,Missense_C248S,Missense_C215S exm531907 6 31660862 [A/G] NR_033489,NR_033488,NM_021160,NM_001177515 ABHD16A,ABHD16A,ABHD16A,ABHD16A EXON Silent,Silent,Missense_R190W,Missense_R157W exm2274143 6 31660879 [A/C] NR_033489,NR_033488,NM_021160,NM_001177515 ABHD16A,ABHD16A,ABHD16A,ABHD16A EXON Silent,Silent,Missense_R184L,Missense_R151L exm-rs805281 6 31661489 [T/C] NR_033489,NR_033488,NM_021160,NM_001177515 ABHD16A,ABHD16A,ABHD16A,ABHD16A Silent,Silent,Silent,Silent exm531911 6 31664748 [A/G] NR_033489,NR_033488,NM_021160,NM_001177515 ABHD16A,ABHD16A,ABHD16A,ABHD16A EXON Silent,Silent,Missense_R136W,Missense_R103W exm531913 6 31664780 [T/C] NR_033489,NR_033488,NM_021160,NM_001177515 ABHD16A,ABHD16A,ABHD16A,ABHD16A EXON Silent,Silent,Missense_R125Q,Missense_R92Q exm-rs805274 6 31665194 [T/C] NR_033489,NR_033488,NM_021160,NM_001177515 ABHD16A,ABHD16A,ABHD16A,ABHD16A Silent,Silent,Silent,Silent exm-rs1266074 6 31666551 [T/C] NR_033489,NR_033488,NM_021160,NM_001177515 ABHD16A,ABHD16A,ABHD16A,ABHD16A Silent,Silent,Silent,Silent exm-rs2295663 6 31669295 [A/G] NR_033489,NR_033488,NM_021160,NM_001177515 ABHD16A,ABHD16A,ABHD16A,ABHD16A Silent,Silent,Silent,Silent exm531927 6 31670982 [A/G] NR_033489,NM_021160 ABHD16A,ABHD16A EXON Silent,Missense_P26L exm-rs9267546 6 31673436 [A/G] exm531934 6 31674736 [T/G] NM_001003693 LY6G6F Silent exm531937 6 31675283 [A/C] NM_001003693 LY6G6F EXON Missense_P34Q exm531938 6 31675297 [T/C] NM_001003693 LY6G6F EXON Missense_P39S exm531951 6 31675494 [C/G] NM_001003693 LY6G6F EXON Nonsense_Y104X exm531952 6 31675501 [A/G] NM_001003693 LY6G6F EXON Missense_A107T exm531955 6 31675549 [A/G] NM_001003693 LY6G6F EXON Missense_V123I exm531961 6 31675765 [A/G] NM_001003693 LY6G6F EXON Missense_R167K exm531964 6 31677853 [A/G] NM_001003693 LY6G6F EXON Missense_M233V exm531965 6 31677883 [A/G] NM_001003693 LY6G6F EXON Missense_M243V exm531970 6 31678184 [C/G] NM_001003693 LY6G6F EXON Missense_L286F exm-rs805287 6 31678730 [A/G] exm-rs805284 6 31682029 [A/G] exm-rs9469042 6 31683018 [T/C] exm531984 6 31683157 [T/G] NM_021246 LY6G6D EXON Missense_L9V exm531985 6 31683164 [A/G] NM_021246 LY6G6D EXON Missense_S11N exm531986 6 31683165 [G/C] NM_021246 LY6G6D EXON Missense_S11R exm531992 6 31685366 [A/G] NM_021246 LY6G6D EXON Missense_T63A exm-rs15574 6 31686497 [A/G] NM_025261 LY6G6C EXON Silent exm532006 6 31686943 [T/C] NM_025261 LY6G6C EXON Missense_R103Q exm532010 6 31687010 [A/G] NM_025261 LY6G6C EXON Missense_R81C exm532012 6 31687027 [C/G] NM_025261 LY6G6C EXON Missense_A75G exm532015 6 31687080 [T/C] NM_025261 LY6G6C EXON Missense_M57I exm-rs805294 6 31688217 [A/G] NM_025261 LY6G6C Silent exm-rs4713479 6 31688799 [T/C] NM_025261 LY6G6C Silent exm532024 6 31689449 [A/G] NM_025261 LY6G6C EXON Missense_A3V exm532037 6 31691508 [A/G] NM_138272,NM_138275,NM_138277,NM_025260,NM_138274,NM_138273 C6orf25,C6orf25,C6orf25,C6orf25,C6orf25,C6orf25 EXON Missense_A52T,Missense_A52T,Missense_A52T,Missense_A52T,Missense_A52T,Missense_A52T exm532039 6 31691539 [A/C] NM_138272,NM_138275,NM_138277,NM_025260,NM_138274,NM_138273 C6orf25,C6orf25,C6orf25,C6orf25,C6orf25,C6orf25 EXON Missense_P62Q,Missense_P62Q,Missense_P62Q,Missense_P62Q,Missense_P62Q,Missense_P62Q exm-rs453098 6 31691657 [A/G] NM_138272,NM_138275,NM_138277,NM_025260,NM_138274,NM_138273 C6orf25,C6orf25,C6orf25,C6orf25,C6orf25,C6orf25 EXON Synonymous_G101G,Synonymous_G101G,Synonymous_G101G,Synonymous_G101G,Synonymous_G101G,Synonymous_G101G exm532049 6 31691751 [A/G] NM_138272,NM_138275,NM_138277,NM_025260,NM_138274,NM_138273 C6orf25,C6orf25,C6orf25,C6orf25,C6orf25,C6orf25 EXON Missense_G133R,Missense_G133R,Missense_G133R,Missense_G133R,Missense_G133R,Missense_G133R exm532059 6 31692395 [T/C] NM_138272,NM_138275,NM_138277,NM_025260,NM_138274,NM_138273 C6orf25,C6orf25,C6orf25,C6orf25,C6orf25,C6orf25 EXON Missense_P178S,Silent,Missense_P178S,Missense_P178S,Silent,Synonymous_S147S exm2243830 6 31692547 [G/C] NM_138272,NM_138275,NM_138277,NM_025260,NM_138274,NM_138273 C6orf25,C6orf25,C6orf25,C6orf25,C6orf25,C6orf25 EXON Missense_L183V,Missense_L139V,Missense_T189S,Missense_T189S,Missense_T145S,Missense_L159V exm532063 6 31692558 [T/C] NM_138272,NM_138275,NM_138277,NM_025260,NM_138274,NM_138273 C6orf25,C6orf25,C6orf25,C6orf25,C6orf25,C6orf25 EXON Synonymous_T186T,Synonymous_T142T,Nonsense_R193X,Nonsense_R193X,Nonsense_R149X,Synonymous_T162T exm532064 6 31692573 [A/G] NM_138272,NM_138275,NM_138277,NM_025260,NM_138274,NM_138273 C6orf25,C6orf25,C6orf25,C6orf25,C6orf25,C6orf25 EXON Synonymous_P191P,Synonymous_P147P,Missense_S198G,Missense_S198G,Missense_S154G,Synonymous_P167P exm532067 6 31692621 [T/G] NM_138272,NM_138275,NM_138277,NM_025260,NM_138274,NM_138273 C6orf25,C6orf25,C6orf25,C6orf25,C6orf25,C6orf25 EXON Synonymous_P207P,Synonymous_P163P,Missense_G214C,Nonsense_E214X,Nonsense_E170X,Synonymous_P183P exm-rs407283 6 31692970 [A/G] NM_138272,NM_138275,NM_138277,NM_025260,NM_138274,NM_138273 C6orf25,C6orf25,C6orf25,C6orf25,C6orf25,C6orf25 EXON Silent,Silent,Silent,Silent,Silent,Silent exm532087 6 31695391 [A/G] NM_013974 DDAH2 EXON Missense_R224C exm532094 6 31696235 [A/G] NM_013974 DDAH2 EXON Missense_T155M exm-rs2272592 6 31698352 [T/C] exm532108 6 31698714 [T/A] NM_001288 CLIC1 EXON Missense_S211C exm532117 6 31701345 [T/C] NM_001288 CLIC1 EXON Missense_D127G exm532120 6 31701449 [A/C] NM_001288 CLIC1 EXON Missense_R92S exm-rs400547 6 31702710 [T/C] NM_001288 CLIC1 Silent exm-rs3131383 6 31704294 [T/G] NM_001288 CLIC1 EXON Silent exm-rs3131382 6 31707730 [T/C] NR_037846,NM_172165,NM_002441,NM_172166,NM_025259 MSH5-SAPCD1,MSH5,MSH5,MSH5,MSH5 EXON Silent,Silent,Silent,Silent,Silent exm-rs409558 6 31708147 [T/C] NR_037846,NM_172165,NM_002441,NM_172166,NM_025259 MSH5-SAPCD1,MSH5,MSH5,MSH5,MSH5 Silent,Silent,Silent,Silent,Silent exm532135 6 31708305 [T/C] NR_037846,NM_172165,NM_002441,NM_172166,NM_025259 MSH5-SAPCD1,MSH5,MSH5,MSH5,MSH5 EXON Silent,Missense_S21F,Missense_S21F,Missense_S21F,Missense_S21F exm532141 6 31709045 [T/C] NR_037846,NM_172165,NM_002441,NM_172166,NM_025259 MSH5-SAPCD1,MSH5,MSH5,MSH5,MSH5 EXON Silent,Missense_L85F,Missense_L85F,Missense_L85F,Missense_L85F exm-rs1144708 6 31710020 [T/C] NR_037846,NM_172165,NM_002441,NM_172166,NM_025259 MSH5-SAPCD1,MSH5,MSH5,MSH5,MSH5 Silent,Silent,Silent,Silent,Silent exm-rs707915 6 31710968 [A/T] NR_037846,NM_172165,NM_002441,NM_172166,NM_025259 MSH5-SAPCD1,MSH5,MSH5,MSH5,MSH5 Silent,Silent,Silent,Silent,Silent exm-rs11964779 6 31711624 [A/C] NR_037846,NM_172165,NM_002441,NM_172166,NM_025259 MSH5-SAPCD1,MSH5,MSH5,MSH5,MSH5 Silent,Silent,Silent,Silent,Silent exm532150 6 31711740 [T/A] NR_037846,NM_172165,NM_002441,NM_172166,NM_025259 MSH5-SAPCD1,MSH5,MSH5,MSH5,MSH5 EXON Silent,Missense_M159L,Missense_M159L,Missense_M159L,Missense_M159L exm532153 6 31711965 [A/G] NR_037846,NM_172165,NM_002441,NM_172166,NM_025259 MSH5-SAPCD1,MSH5,MSH5,MSH5,MSH5 EXON Silent,Silent,Silent,Silent,Missense_Q196R exm532154 6 31711970 [T/C] NR_037846,NM_172165,NM_002441,NM_172166,NM_025259 MSH5-SAPCD1,MSH5,MSH5,MSH5,MSH5 EXON Silent,Nonsense_R181X,Nonsense_R181X,Nonsense_R181X,Nonsense_R198X exm532156 6 31712003 [C/G] NR_037846,NM_172165,NM_002441,NM_172166,NM_025259 MSH5-SAPCD1,MSH5,MSH5,MSH5,MSH5 EXON Silent,Missense_R192G,Missense_R192G,Missense_R192G,Missense_R209G exm532157 6 31712032 [G/C] NR_037846,NM_172165,NM_002441,NM_172166,NM_025259 MSH5-SAPCD1,MSH5,MSH5,MSH5,MSH5 EXON Silent,Missense_D201E,Missense_D201E,Missense_D201E,Missense_D218E exm-rs3749953 6 31713124 [A/G] NR_037846,NM_172165,NM_002441,NM_172166,NM_025259 MSH5-SAPCD1,MSH5,MSH5,MSH5,MSH5 Silent,Silent,Silent,Silent,Silent exm-rs3828922 6 31713454 [T/C] NR_037846,NM_172165,NM_002441,NM_172166,NM_025259 MSH5-SAPCD1,MSH5,MSH5,MSH5,MSH5 Silent,Silent,Silent,Silent,Silent exm-rs3117572 6 31717692 [A/G] NR_037846,NM_172165,NM_002441,NM_172166,NM_025259 MSH5-SAPCD1,MSH5,MSH5,MSH5,MSH5 Silent,Silent,Silent,Silent,Silent exm-rs2299851 6 31718602 [A/G] NR_037846,NM_172165,NM_002441,NM_172166,NM_025259 MSH5-SAPCD1,MSH5,MSH5,MSH5,MSH5 Silent,Silent,Silent,Silent,Silent exm-rs3131379 6 31721033 [A/G] NR_037846,NM_172165,NM_002441,NM_172166,NM_025259 MSH5-SAPCD1,MSH5,MSH5,MSH5,MSH5 Silent,Silent,Silent,Silent,Silent exm532172 6 31721166 [T/G] NR_037846,NM_172165,NM_002441,NM_172166,NM_025259 MSH5-SAPCD1,MSH5,MSH5,MSH5,MSH5 EXON Silent,Missense_D301Y,Missense_D301Y,Missense_D301Y,Missense_D318Y exm-rs9296001 6 31722262 [T/C] NR_037846,NM_172165,NM_002441,NM_172166,NM_025259 MSH5-SAPCD1,MSH5,MSH5,MSH5,MSH5 Silent,Silent,Silent,Silent,Silent exm-rs11754464 6 31723735 [T/C] NR_037846,NM_172165,NM_002441,NM_172166,NM_025259 MSH5-SAPCD1,MSH5,MSH5,MSH5,MSH5 Silent,Silent,Silent,Silent,Silent exm-rs3117574 6 31725230 [A/G] NR_037846,NM_172165,NM_002441,NM_172166,NM_025259 MSH5-SAPCD1,MSH5,MSH5,MSH5,MSH5 Silent,Silent,Silent,Silent,Silent exm532184 6 31725978 [C/G] NR_037846,NM_172165,NM_002441,NM_172166,NM_025259 MSH5-SAPCD1,MSH5,MSH5,MSH5,MSH5 EXON Silent,Missense_R351G,Missense_R351G,Missense_R351G,Missense_R368G exm532188 6 31726056 [T/C] NR_037846,NM_172165,NM_002441,NM_172166,NM_025259 MSH5-SAPCD1,MSH5,MSH5,MSH5,MSH5 EXON Silent,Missense_L377F,Missense_L377F,Missense_L377F,Missense_L394F exm-rs707939 6 31726688 [A/C] NR_037846,NM_172165,NM_002441,NM_172166,NM_025259 MSH5-SAPCD1,MSH5,MSH5,MSH5,MSH5 Silent,Silent,Silent,Silent,Silent exm532196 6 31727239 [A/G] NR_037846,NM_172165,NM_002441,NM_172166,NM_025259 MSH5-SAPCD1,MSH5,MSH5,MSH5,MSH5 EXON Silent,Missense_R482Q,Missense_R482Q,Missense_R482Q,Missense_R499Q exm-rs3117577 6 31727474 [A/G] NR_037846,NM_172165,NM_002441,NM_172166,NM_025259 MSH5-SAPCD1,MSH5,MSH5,MSH5,MSH5 Silent,Silent,Silent,Silent,Silent exm532218 6 31727919 [T/G] NR_037846,NM_172165,NM_002441,NM_172166,NM_025259 MSH5-SAPCD1,MSH5,MSH5,MSH5,MSH5 EXON Silent,Missense_C580G,Missense_C580G,Missense_C580G,Missense_C597G exm532219 6 31727989 [A/G] NR_037846,NM_172165,NM_002441,NM_172166,NM_025259 MSH5-SAPCD1,MSH5,MSH5,MSH5,MSH5 EXON Silent,Missense_K603R,Missense_K603R,Missense_K603R,Missense_K620R exm-rs2075801 6 31728267 [A/G] NR_037846,NM_172165,NM_002441,NM_172166,NM_025259 MSH5-SAPCD1,MSH5,MSH5,MSH5,MSH5 Silent,Silent,Silent,Silent,Silent exm-rs707938 6 31729359 [A/G] NR_037846,NM_172165,NM_002441,NM_172166,NM_025259 MSH5-SAPCD1,MSH5,MSH5,MSH5,MSH5 EXON Silent,Synonymous_Q717Q,Synonymous_Q716Q,Synonymous_Q716Q,Synonymous_Q734Q exm532236 6 31729904 [T/C] NR_037846,NM_172165,NM_002441,NM_172166,NM_025259 MSH5-SAPCD1,MSH5,MSH5,MSH5,MSH5 EXON Silent,Missense_R780C,Missense_R779C,Missense_R779C,Missense_R767C exm532237 6 31729905 [A/G] NR_037846,NM_172165,NM_002441,NM_172166,NM_025259 MSH5-SAPCD1,MSH5,MSH5,MSH5,MSH5 EXON Silent,Missense_R780H,Missense_R779H,Missense_R779H,Missense_R767H exm532238 6 31729925 [T/C] NR_037846,NM_172165,NM_002441,NM_172166,NM_025259 MSH5-SAPCD1,MSH5,MSH5,MSH5,MSH5 EXON Silent,Missense_P787S,Missense_P786S,Missense_P786S,Missense_P774S exm532246 6 31730853 [A/G] NR_037846,NM_001039651 MSH5-SAPCD1,SAPCD1 EXON Silent,Missense_G8R exm532247 6 31730919 [T/C] NR_037846,NM_001039651 MSH5-SAPCD1,SAPCD1 EXON Silent,Missense_P30S exm532249 6 31730935 [T/G] NR_037846,NM_001039651 MSH5-SAPCD1,SAPCD1 EXON Silent,Missense_F35C exm532251 6 31731195 [T/C] NR_037846,NM_001039651 MSH5-SAPCD1,SAPCD1 EXON Silent,Missense_R40C exm532255 6 31731298 [A/G] NR_037846,NM_001039651 MSH5-SAPCD1,SAPCD1 EXON Silent,Missense_Q74R exm532256 6 31731303 [T/C] NR_037846,NM_001039651 MSH5-SAPCD1,SAPCD1 EXON Silent,Nonsense_Q76X exm532262 6 31731843 [T/G] NR_037846,NM_001039651 MSH5-SAPCD1,SAPCD1 EXON Silent,Missense_N86K exm532264 6 31731881 [T/C] NR_037846,NM_001039651 MSH5-SAPCD1,SAPCD1 EXON Silent,Missense_P99L exm532265 6 31731904 [A/G] NR_037846,NM_001039651 MSH5-SAPCD1,SAPCD1 EXON Silent,Missense_N107D exm532268 6 31732059 [T/C] NR_037846,NM_001039651 MSH5-SAPCD1,SAPCD1 EXON Silent,Missense_L123P exm532273 6 31732224 [C/G] NR_037846,NM_001039651 MSH5-SAPCD1,SAPCD1 EXON Silent,Missense_R151S exm532276 6 31732301 [A/G] NR_037846,NM_001039651 MSH5-SAPCD1,SAPCD1 EXON Silent,Missense_R177H exm-rs11967206 6 31732679 [T/C] exm532278 6 31733418 [C/G] NM_025258 VWA7 EXON Missense_G877R exm532280 6 31733466 [T/C] NM_025258 VWA7 EXON Missense_T861A exm532284 6 31733544 [A/G] NM_025258 VWA7 EXON Missense_R835W exm-rs707936 6 31733650 [A/G] NM_025258 VWA7 Silent exm532302 6 31734293 [A/G] NM_025258 VWA7 EXON Missense_R711C exm532304 6 31734313 [A/C] NM_025258 VWA7 EXON Missense_G704V exm-rs3115671 6 31734345 [T/G] NM_025258 VWA7 EXON Synonymous_S693S exm2243834 6 31734367 [A/G] NM_025258 VWA7 EXON Missense_S686L exm532310 6 31734385 [T/C] NM_025258 VWA7 EXON Missense_R680Q exm532312 6 31734421 [T/C] NM_025258 VWA7 EXON Missense_G668D exm532321 6 31735265 [T/C] NM_025258 VWA7 EXON Missense_G555R exm-rs707934 6 31735631 [T/C] NM_025258 VWA7 Silent exm532331 6 31736949 [T/C] NM_025258 VWA7 EXON Missense_R450K exm532337 6 31737815 [A/C] NM_025258 VWA7 EXON Missense_G388V exm532339 6 31737861 [A/G] NM_025258 VWA7 EXON Missense_P373S exm532345 6 31740806 [A/G] NM_025258 VWA7 EXON Missense_R338C exm532347 6 31741049 [A/C] NM_025258 VWA7 EXON Missense_R296L exm532351 6 31741163 [T/C] NM_025258 VWA7 EXON Missense_R258K exm532353 6 31741194 [C/G] NM_025258 VWA7 EXON Missense_H248D exm-rs7769537 6 31741981 [A/G] NM_025258 VWA7 Silent exm532358 6 31742367 [T/C] NM_025258 VWA7 EXON Missense_S216N exm532359 6 31742383 [T/C] NM_025258 VWA7 EXON Missense_D211N exm-rs707928 6 31742590 [A/G] NM_025258 VWA7 Silent exm532365 6 31743770 [A/G] NM_025258 VWA7 EXON Missense_R162C exm532367 6 31743838 [T/C] NM_025258 VWA7 EXON Missense_R139H exm532368 6 31743839 [A/G] NM_025258 VWA7 EXON Missense_R139C exm532369 6 31743841 [A/G] NM_025258 VWA7 EXON Missense_A138V exm532370 6 31743842 [T/C] NM_025258 VWA7 EXON Missense_A138T exm532372 6 31743844 [T/C] NM_025258 VWA7 EXON Missense_R137H exm532373 6 31743860 [A/G] NM_025258 VWA7 EXON Nonsense_R132X exm532376 6 31743895 [A/G] NM_025258 VWA7 EXON Missense_S120F exm532379 6 31743959 [A/G] NM_025258 VWA7 EXON Missense_R99W exm532380 6 31743962 [A/G] NM_025258 VWA7 EXON Missense_R98W exm532389 6 31744391 [T/C] NM_025258 VWA7 EXON Missense_V56I exm-rs2736426 6 31745284 [T/C] exm532404 6 31746948 [G/C] NM_006295 VARS EXON Missense_Q1174H exm532413 6 31747216 [T/C] NM_006295 VARS EXON Missense_R1129Q exm2257748 6 31747269 [A/C] NM_006295 VARS EXON Synonymous_A1111A exm532420 6 31747269 [A/C] NM_006295 VARS EXON Synonymous_A1111A exm532424 6 31747510 [T/C] NM_006295 VARS EXON Missense_V1055I exm532426 6 31747555 [T/C] NM_006295 VARS EXON Missense_V1040M exm532428 6 31747833 [A/G] NM_006295 VARS EXON Missense_P1008L exm532446 6 31748678 [G/C] NM_006295 VARS EXON Missense_P896R exm-rs707926 6 31748820 [A/G] NM_006295 VARS EXON Synonymous_D875D exm-rs915652 6 31749142 [A/G] NM_006295 VARS Silent exm-rs743399 6 31749804 [T/C] NM_006295 VARS Silent exm532471 6 31750074 [A/G] NM_006295 VARS EXON Missense_M713T exm532485 6 31750509 [A/G] NM_006295 VARS EXON Missense_P626S exm532487 6 31750517 [T/C] NM_006295 VARS EXON Missense_N623S exm532488 6 31750532 [T/C] NM_006295 VARS EXON Missense_R618Q exm532489 6 31750542 [T/C] NM_006295 VARS EXON Missense_M615V exm2121283 6 31750919 [C/G] NM_006295 VARS EXON Missense_S572R exm532495 6 31751996 [T/A] NM_006295 VARS EXON Missense_Y556N exm532506 6 31752479 [T/C] NM_006295 VARS EXON Missense_A454T exm532507 6 31753093 [T/C] NM_006295 VARS EXON Missense_R426Q exm-rs11751198 6 31753526 [A/G] NM_006295 VARS Silent exm532522 6 31760047 [T/C] NM_006295 VARS EXON Missense_R273Q exm532533 6 31760653 [T/C] NM_006295 VARS EXON Missense_R181H exm532534 6 31760654 [A/G] NM_006295 VARS EXON Missense_R181C exm532535 6 31760656 [A/G] NM_006295 VARS EXON Missense_A180V exm-rs4713488 6 31762311 [T/C] NM_006295 VARS Silent exm532543 6 31762624 [A/G] NM_006295 VARS EXON Missense_S124L exm532556 6 31762990 [G/C] NM_006295 VARS EXON Missense_S2C exm-rs534892 6 31763942 [G/C] exm-rs480092 6 31764899 [T/C] exm-rs2242668 6 31773821 [T/C] NM_021177 LSM2 Silent exm532570 6 31777859 [T/G] NM_005527 HSPA1L EXON Missense_P631T exm532575 6 31777946 [T/C] NM_005527 HSPA1L EXON Missense_E602K exm532578 6 31777993 [T/C] NM_005527 HSPA1L EXON Missense_N586S exm532583 6 31778077 [T/G] NM_005527 HSPA1L EXON Missense_E558A exm532587 6 31778195 [A/G] NM_005527 HSPA1L EXON Missense_R519C exm532589 6 31778272 [A/G] NM_005527 HSPA1L EXON Missense_T493M exm532591 6 31778314 [A/G] NM_005527 HSPA1L EXON Missense_T479M exm-rs2075799 6 31778529 [T/C] NM_005527 HSPA1L EXON Synonymous_T407T exm532618 6 31778869 [T/C] NM_005527 HSPA1L EXON Missense_D294G exm532622 6 31778942 [T/C] NM_005527 HSPA1L EXON Missense_E270K exm532629 6 31779089 [T/C] NM_005527 HSPA1L EXON Missense_V221I exm532644 6 31779530 [A/G] NM_005527 HSPA1L EXON Missense_R74C exm532656 6 31779728 [G/C] NM_005527 HSPA1L EXON Missense_A8P exm-rs1043618 6 31783507 [G/C] NM_005345 HSPA1A EXON Silent exm-rs9469058 6 31788050 [A/T] exm-rs13211317 6 31789919 [T/C] exm-rs2763979 6 31794592 [T/C] exm-rs6457452 6 31795550 [T/C] NM_005346 HSPA1B EXON Silent exm-rs2471980 6 31800868 [G/C] exm-rs9368699 6 31802541 [T/C] exm-rs10456397 6 31804014 [A/T] NM_001040438,NM_001040437 C6orf48,C6orf48 Silent,Silent exm-rs11968400 6 31804729 [T/C] NM_001040438,NM_001040437 C6orf48,C6orf48 Silent,Silent exm532727 6 31807343 [T/C] NM_001040438,NM_001040437 C6orf48,C6orf48 EXON Missense_P44L,Missense_P44L exm532734 6 31807540 [A/G] NM_001040438,NM_001040437 C6orf48,C6orf48 EXON Silent,Silent exm-rs599707 6 31808436 [T/C] exm-rs3115673 6 31810085 [T/G] exm-rs9267576 6 31812038 [T/G] exm-rs9469063 6 31813576 [G/C] exm-rs12210887 6 31815723 [T/G] exm-rs574914 6 31819376 [A/G] exm-rs12193504 6 31820805 [T/C] exm-rs12206140 6 31823307 [T/C] exm-rs9267649 6 31824828 [A/G] exm-rs13118 6 31827286 [T/A] NM_000434 NEU1 EXON Silent exm532740 6 31827674 [T/C] NM_000434 NEU1 EXON Missense_R357Q exm2121341 6 31828014 [T/C] NM_000434 NEU1 EXON Missense_V276I exm532754 6 31828365 [T/C] NM_000434 NEU1 EXON Missense_V217M exm532771 6 31829865 [C/G] NM_000434 NEU1 EXON Missense_G88A exm532778 6 31831478 [T/C] NM_001178044,NM_001178045,NM_025257 SLC44A4,SLC44A4,SLC44A4 EXON Missense_M645V,Missense_M611V,Missense_M687V exm532783 6 31832458 [A/G] NM_001178044,NM_001178045,NM_025257 SLC44A4,SLC44A4,SLC44A4 EXON Missense_M619T,Missense_M585T,Missense_M661T exm532793 6 31832841 [T/C] NM_001178044,NM_001178045,NM_025257 SLC44A4,SLC44A4,SLC44A4 EXON Missense_K551E,Missense_K517E,Missense_K593E exm2243842 6 31833125 [T/C] NM_001178044,NM_001178045,NM_025257 SLC44A4,SLC44A4,SLC44A4 EXON Missense_N534S,Missense_N500S,Missense_N576S exm532813 6 31833650 [T/C] NM_001178044,NM_001178045,NM_025257 SLC44A4,SLC44A4,SLC44A4 EXON Missense_R454H,Missense_R420H,Missense_R496H exm532814 6 31833660 [A/G] NM_001178044,NM_001178045,NM_025257 SLC44A4,SLC44A4,SLC44A4 EXON Missense_R451C,Missense_R417C,Missense_R493C exm532815 6 31833675 [T/A] NM_001178044,NM_001178045,NM_025257 SLC44A4,SLC44A4,SLC44A4 EXON Missense_I446F,Missense_I412F,Missense_I488F exm-rs4947332 6 31834197 [T/C] NM_001178044,NM_001178045,NM_025257 SLC44A4,SLC44A4,SLC44A4 Silent,Silent,Silent exm532827 6 31836976 [A/G] NM_001178044,NM_001178045,NM_025257 SLC44A4,SLC44A4,SLC44A4 EXON Missense_P355S,Missense_P321S,Missense_P397S exm532828 6 31836994 [C/G] NM_001178044,NM_001178045,NM_025257 SLC44A4,SLC44A4,SLC44A4 EXON Missense_A349P,Missense_A315P,Missense_A391P exm532829 6 31837009 [C/G] NM_001178044,NM_001178045,NM_025257 SLC44A4,SLC44A4,SLC44A4 EXON Missense_Q344E,Missense_Q310E,Missense_Q386E exm-rs11966200 6 31837066 [T/C] NM_001178044,NM_001178045,NM_025257 SLC44A4,SLC44A4,SLC44A4 Silent,Silent,Silent exm-rs660594 6 31837250 [A/G] NM_001178044,NM_001178045,NM_025257 SLC44A4,SLC44A4,SLC44A4 Silent,Silent,Silent exm532838 6 31838441 [T/C] NM_001178044,NM_001178045,NM_025257 SLC44A4,SLC44A4,SLC44A4 EXON Missense_M284V,Missense_M250V,Missense_M326V exm532844 6 31838588 [T/C] NM_001178044,NM_001178045,NM_025257 SLC44A4,SLC44A4,SLC44A4 Silent,Silent,Silent exm2121367 6 31838589 [C/G] NM_001178044,NM_001178045,NM_025257 SLC44A4,SLC44A4,SLC44A4 EXON Missense_L271V,Missense_L237V,Missense_L313V exm532845 6 31838590 [A/G] NM_001178044,NM_001178045,NM_025257 SLC44A4,SLC44A4,SLC44A4 EXON Synonymous_A270A,Synonymous_A236A,Synonymous_A312A exm532854 6 31838760 [T/G] NM_001178044,NM_001178045,NM_025257 SLC44A4,SLC44A4,SLC44A4 EXON Missense_P214T,Missense_P180T,Missense_P256T exm532860 6 31839149 [C/G] NM_001178044,NM_001178045,NM_025257 SLC44A4,SLC44A4,SLC44A4 EXON Missense_R173G,Missense_R139G,Missense_R215G exm532862 6 31839309 [T/C] NM_001178044,NM_001178045,NM_025257 SLC44A4,SLC44A4,SLC44A4 EXON Missense_V145I,Missense_V111I,Missense_V187I exm-rs3130481 6 31839756 [C/G] NM_001178044,NM_001178045,NM_025257 SLC44A4,SLC44A4,SLC44A4 Silent,Silent,Silent exm-rs614549 6 31840625 [A/G] NM_001178044,NM_001178045,NM_025257 SLC44A4,SLC44A4,SLC44A4 Silent,Silent,Silent exm532867 6 31842243 [T/C] NM_001178044,NM_001178045,NM_025257 SLC44A4,SLC44A4,SLC44A4 EXON Missense_A133T,Missense_A99T,Missense_A175T exm532870 6 31842296 [A/G] NM_001178044,NM_001178045,NM_025257 SLC44A4,SLC44A4,SLC44A4 EXON Missense_T115M,Missense_T81M,Missense_T157M exm532873 6 31842531 [C/G] NM_001178044,NM_001178045,NM_025257 SLC44A4,SLC44A4,SLC44A4 EXON Silent,Missense_R69S,Missense_R145S exm532874 6 31842535 [T/C] NM_001178044,NM_001178045,NM_025257 SLC44A4,SLC44A4,SLC44A4 EXON Silent,Missense_N68S,Missense_N144S exm532875 6 31842575 [T/C] NM_001178044,NM_001178045,NM_025257 SLC44A4,SLC44A4,SLC44A4 EXON Silent,Missense_E55K,Missense_E131K exm532877 6 31842586 [A/G] NM_001178044,NM_001178045,NM_025257 SLC44A4,SLC44A4,SLC44A4 EXON Silent,Missense_V51A,Missense_V127A exm532878 6 31842598 [T/A] NM_001178044,NM_001178045,NM_025257 SLC44A4,SLC44A4,SLC44A4 EXON Silent,Missense_D47V,Missense_D123V exm532893 6 31844824 [A/G] NM_001178044,NM_001178045,NM_025257 SLC44A4,SLC44A4,SLC44A4 EXON Missense_P26S,Silent,Missense_P26S exm532896 6 31846727 [T/C] NM_001178044,NM_025257 SLC44A4,SLC44A4 EXON Missense_E11K,Missense_E11K exm532898 6 31846741 [A/C] NM_001178044,NM_025257 SLC44A4,SLC44A4 EXON Missense_R6L,Missense_R6L exm-rs605203 6 31847012 [A/C] exm532907 6 31847995 [T/G] NM_025256,NM_006709 EHMT2,EHMT2 EXON Missense_T1133P,Missense_T1167P exm532912 6 31848492 [C/G] NM_025256,NM_006709 EHMT2,EHMT2 EXON Missense_A1103G,Missense_A1137G exm2257749 6 31851172 [A/G] NM_025256,NM_006709 EHMT2,EHMT2 EXON Synonymous_C953C,Synonymous_C987C exm532934 6 31851702 [T/C] NM_025256,NM_006709 EHMT2,EHMT2 EXON Missense_V899M,Missense_V933M exm532939 6 31852217 [T/C] NM_025256,NM_006709 EHMT2,EHMT2 EXON Missense_R874Q,Missense_R908Q exm532940 6 31852221 [T/G] NM_025256,NM_006709 EHMT2,EHMT2 EXON Missense_L873I,Missense_L907I exm532972 6 31854574 [T/C] NM_025256,NM_006709 EHMT2,EHMT2 EXON Missense_R706H,Missense_R740H exm532991 6 31855727 [T/C] NM_025256,NM_006709 EHMT2,EHMT2 EXON Missense_R552Q,Missense_R586Q exm533000 6 31855914 [T/C] NM_025256,NM_006709 EHMT2,EHMT2 EXON Missense_R516Q,Missense_R550Q exm-rs486416 6 31856070 [A/G] NM_025256,NM_006709 EHMT2,EHMT2 Silent,Silent exm533005 6 31856140 [T/C] NM_025256,NM_006709 EHMT2,EHMT2 EXON Synonymous_A469A,Synonymous_A503A exm533017 6 31856846 [T/C] NM_025256,NM_006709 EHMT2,EHMT2 EXON Silent,Synonymous_G372G exm533020 6 31857041 [A/G] NM_025256,NM_006709 EHMT2,EHMT2 EXON Missense_R360C,Missense_R360C exm533031 6 31857352 [C/G] NM_025256,NM_006709 EHMT2,EHMT2 EXON Missense_L298V,Missense_L298V exm533038 6 31860315 [A/G] NM_025256,NM_006709 EHMT2,EHMT2 EXON Missense_R245C,Missense_R245C exm533062 6 31864538 [A/G] NM_025256,NM_006709 EHMT2,EHMT2 EXON Missense_S58F,Missense_S58F exm533088 6 31868275 [A/G] NR_073063,NM_181842 C2,ZBTB12 EXON Silent,Missense_S270P exm533093 6 31868407 [A/G] NR_073063,NM_181842 C2,ZBTB12 EXON Silent,Missense_P226S exm-rs9394078 6 31868938 [T/C] NR_073063,NM_181842,NM_001178063 C2,ZBTB12,C2 EXON Silent,Missense_V49I,Silent exm-rs558702 6 31870326 [A/G] NR_073063,NM_001178063 C2,C2 Silent,Silent exm-rs6939227 6 31870873 [A/C] NR_073063,NM_001178063 C2,C2 Silent,Silent exm-rs2763982 6 31872551 [C/G] NR_073063,NM_001178063 C2,C2 Silent,Silent exm-rs571220 6 31874505 [T/G] NR_073063,NM_001178063 C2,C2 Silent,Silent exm2266176 6 31882024 [A/G] NR_073063,NM_001178063 C2,C2 Silent,Silent exm-rs9267673 6 31883679 [T/C] NR_073063,NM_001178063 C2,C2 Silent,Silent exm-rs644045 6 31883957 [A/G] NR_073063,NM_001178063 C2,C2 Silent,Silent exm-rs3130683 6 31888367 [T/C] NR_073063,NM_001178063 C2,C2 Silent,Silent exm-rs511294 6 31888869 [T/G] NR_073063,NM_001178063 C2,C2 Silent,Silent exm-rs497309 6 31892484 [A/C] NR_073063,NM_001178063 C2,C2 Silent,Silent exm-rs2734335 6 31893944 [A/G] NR_073063,NM_001178063 C2,C2 Silent,Silent exm-rs3020644 6 31894626 [A/G] NR_073063,NM_001178063 C2,C2 Silent,Silent exm2121440 6 31895903 [T/C] NR_073063,NM_001178063,NM_000063,NM_001145903 C2,C2,C2,C2 EXON Silent,Silent,Missense_P73L,Silent exm-rs7746553 6 31895973 [G/C] NR_073063,NM_001178063,NM_000063,NM_001145903 C2,C2,C2,C2 Silent,Silent,Silent,Silent exm533139 6 31901558 [A/G] NR_073063,NM_001178063,NM_000063,NM_001145903 C2,C2,C2,C2 EXON Silent,Missense_R82H,Missense_R205H,Missense_R73H exm533140 6 31901664 [A/C] NR_073063,NM_001178063,NM_000063,NM_001145903 C2,C2,C2,C2 EXON Silent,Missense_P90T,Missense_P213T,Missense_P81T exm533141 6 31901691 [A/G] NR_073063,NM_001178063,NM_000063,NM_001145903 C2,C2,C2,C2 EXON Silent,Missense_T99A,Missense_T222A,Missense_T90A exm-rs9332735 6 31901773 [A/G] NR_073063,NM_001178063,NM_000063,NM_001145903 C2,C2,C2,C2 Silent,Silent,Silent,Silent exm533145 6 31901976 [G/C] NR_073063,NM_001178063,NM_000063,NM_001145903 C2,C2,C2,C2 EXON Silent,Silent,Missense_S250C,Missense_S118C exm533147 6 31902024 [C/G] NR_073063,NM_001178063,NM_000063,NM_001145903 C2,C2,C2,C2 EXON Silent,Silent,Missense_S266W,Missense_S134W exm533149 6 31903779 [A/G] NR_073063,NM_001178063,NM_000063,NM_001145903 C2,C2,C2,C2 EXON Silent,Silent,Missense_N310S,Missense_N178S exm533151 6 31903804 [C/G] NR_073063,NM_001178063,NM_000063,NM_001145903 C2,C2,C2,C2 EXON Silent,Silent,Missense_E318D,Missense_E186D exm-rs9380272 6 31906010 [A/G] NR_073063,NM_001178063,NM_000063,NM_001145903 C2,C2,C2,C2 Silent,Silent,Silent,Silent exm533160 6 31907047 [A/C] NR_073063,NM_001178063,NM_000063,NM_001145903 C2,C2,C2,C2 EXON Silent,Missense_D176A,Missense_D390A,Missense_D258A exm-rs638383 6 31908224 [T/C] NR_073063,NM_001178063,NM_000063,NM_001145903 C2,C2,C2,C2 Silent,Silent,Silent,Silent exm533169 6 31911055 [A/G] NR_073063,NM_001178063,NM_000063,NM_001145903 C2,C2,C2,C2 EXON Silent,Missense_A258T,Missense_A472T,Missense_A340T exm533170 6 31911091 [A/G] NR_073063,NM_001178063,NM_000063,NM_001145903 C2,C2,C2,C2 EXON Silent,Missense_I270V,Missense_I484V,Missense_I352V exm533172 6 31911232 [A/G] NR_073063,NM_001178063,NM_000063,NM_001145903 C2,C2,C2,C2 EXON Silent,Missense_D285N,Missense_D499N,Missense_D367N exm533173 6 31911266 [A/G] NR_073063,NM_001178063,NM_000063,NM_001145903 C2,C2,C2,C2 EXON Silent,Missense_R296H,Missense_R510H,Missense_R378H exm533175 6 31911268 [A/G] NR_073063,NM_001178063,NM_000063,NM_001145903 C2,C2,C2,C2 EXON Silent,Missense_D297N,Missense_D511N,Missense_D379N exm533178 6 31911430 [A/G] NR_073063,NM_001178063,NM_000063,NM_001145903 C2,C2,C2,C2 EXON Silent,Missense_K312R,Missense_K526R,Missense_K394R exm2243848 6 31911441 [A/G] NR_073063,NM_001178063,NM_000063,NM_001145903 C2,C2,C2,C2 EXON Silent,Missense_G316S,Missense_G530S,Missense_G398S exm533184 6 31911738 [A/G] NR_073063,NM_001178063,NM_000063,NM_001145903 C2,C2,C2,C2 EXON Silent,Missense_R379Q,Missense_R593Q,Missense_R461Q exm-rs9332730 6 31912009 [G/C] NR_073063,NM_001178063,NM_000063,NM_001145903 C2,C2,C2,C2 Silent,Silent,Silent,Silent exm533191 6 31912523 [T/C] NR_073063,NM_001178063,NM_000063,NM_001145903 C2,C2,C2,C2 EXON Silent,Missense_V427A,Missense_V641A,Missense_V509A exm533199 6 31913046 [T/C] NR_073063,NM_001178063,NM_000063,NM_001145903 C2,C2,C2,C2 EXON Silent,Missense_P510L,Missense_P724L,Missense_P592L exm533201 6 31913075 [T/C] NR_073063,NM_001178063,NM_000063,NM_001145903 C2,C2,C2,C2 EXON Silent,Missense_R520C,Missense_R734C,Missense_R602C exm533208 6 31914179 [T/C] NM_001710 CFB EXON Missense_R32W exm2121470 6 31914306 [A/G] NM_001710 CFB EXON Missense_R74H exm533229 6 31915584 [A/C] NM_001710 CFB EXON Missense_I242L exm533230 6 31915614 [A/G] NM_001710 CFB EXON Missense_G252S exm533247 6 31916231 [A/C] NM_001710 CFB EXON Missense_E326D exm-rs537160 6 31916400 [A/G] NM_001710 CFB Silent exm533249 6 31916613 [A/T] NM_001710 CFB EXON Missense_K348M exm533253 6 31916675 [G/C] NM_001710 CFB EXON Missense_P369A exm2257751 6 31916707 [T/C] NM_001710 CFB EXON Synonymous_R379R exm-rs541862 6 31916951 [T/C] NM_001710 CFB Silent exm2276814 6 31917333 [C/G] NM_001710 CFB EXON Missense_I469M exm-rs4151657 6 31917540 [T/C] NM_001710 CFB Silent exm533276 6 31918153 [T/A] NM_001710 CFB EXON Nonsense_K533X exm533277 6 31918154 [A/G] NM_001710 CFB EXON Missense_K533R exm533283 6 31918464 [A/G] NM_001710 CFB EXON Missense_K565E exm533284 6 31918468 [A/C] NM_001710 CFB EXON Missense_E566A exm-rs1270942 6 31918860 [A/G] NM_001710 CFB Silent exm-rs2072633 6 31919578 [A/G] NM_001710 CFB Silent exm-rs4151664 6 31920873 [T/C] NM_002904 NELFE Silent exm-rs630379 6 31922254 [A/C] NM_002904 NELFE Silent exm533327 6 31922356 [A/G] NM_002904 NELFE EXON Nonsense_R240X exm533336 6 31922453 [G/C] NM_002904 NELFE EXON Missense_D207E exm2121508 6 31922470 [A/G] NM_002904 NELFE EXON Missense_R202W exm-rs440454 6 31927342 [A/G] NM_006929 SKIV2L Silent exm533378 6 31927839 [A/G] NM_006929 SKIV2L EXON Missense_Q60R exm533379 6 31928014 [T/C] NM_006929 SKIV2L EXON Missense_T85M exm533385 6 31928234 [T/C] NM_006929 SKIV2L EXON Missense_S127L exm533392 6 31928306 [A/G] NM_006929 SKIV2L EXON Missense_Q151R exm533395 6 31928463 [A/G] NM_006929 SKIV2L EXON Missense_I164V exm-rs419788 6 31928799 [T/C] NM_006929 SKIV2L Silent exm533406 6 31929014 [A/C] NM_006929 SKIV2L EXON Missense_M214L exm533408 6 31929115 [G/C] NM_006929 SKIV2L EXON Missense_C247W exm2121527 6 31929164 [A/G] NM_006929 SKIV2L Silent exm533421 6 31929737 [T/C] NM_006929 SKIV2L EXON Missense_R324W exm-rs2734331 6 31930351 [A/G] NM_006929 SKIV2L EXON Synonymous_T400T exm-rs592229 6 31930441 [T/G] NM_006929 SKIV2L Silent exm-rs429608 6 31930462 [A/G] NM_006929 SKIV2L Silent exm533454 6 31931696 [A/G] NM_006929 SKIV2L EXON Missense_G552R exm533456 6 31931727 [A/G] NM_006929 SKIV2L EXON Missense_R562H exm533458 6 31931747 [A/G] NM_006929 SKIV2L EXON Missense_V569M exm533465 6 31931858 [T/C] NM_006929 SKIV2L EXON Missense_R606C exm-rs444921 6 31932177 [T/C] NM_006929 SKIV2L Silent exm-rs492899 6 31933518 [T/C] NM_006929 SKIV2L Silent exm533495 6 31934882 [C/G] NM_006929 SKIV2L EXON Missense_W814C exm533505 6 31935567 [A/G] NM_006929 SKIV2L EXON Missense_D887N exm533508 6 31935750 [A/G] NM_006929 SKIV2L EXON Missense_V917M exm533514 6 31935832 [T/C] NM_006929 SKIV2L EXON Missense_F944S exm533519 6 31936154 [T/C] NM_006929 SKIV2L EXON Missense_R970C exm533533 6 31936514 [T/C] NM_006929 SKIV2L EXON Missense_R1041C exm533539 6 31936654 [T/C] NM_006929 SKIV2L EXON Nonsense_R1063X exm533544 6 31936679 [T/C] NM_006929 SKIV2L EXON Missense_A1071V exm533548 6 31936795 [C/G] NM_006929 SKIV2L EXON Missense_A1110P exm533553 6 31937127 [T/C] NM_006929 SKIV2L EXON Missense_T1157M exm533555 6 31937373 [T/C] NM_006929 SKIV2L EXON Missense_R1208C exm533566 6 31937715 [T/C] NM_005510 DOM3Z EXON Nonsense_W377X exm533574 6 31937953 [T/C] NM_005510 DOM3Z EXON Missense_V326M exm-rs474534 6 31938107 [A/G] NM_005510 DOM3Z Silent exm533579 6 31938120 [T/C] NM_005510 DOM3Z EXON Synonymous_R316R exm533582 6 31938187 [T/C] NM_005510 DOM3Z EXON Missense_R294H exm533583 6 31938188 [A/G] NM_005510 DOM3Z EXON Missense_R294C exm533591 6 31938412 [T/G] NM_005510 DOM3Z EXON Missense_H261Q exm533597 6 31938515 [T/C] NM_005510 DOM3Z EXON Missense_H227R exm533604 6 31938727 [A/G] NM_005510 DOM3Z EXON Missense_M185T exm533605 6 31938736 [T/C] NM_005510 DOM3Z EXON Missense_R182Q exm533622 6 31939416 [T/C] NM_005510,NR_026717 DOM3Z,STK19 EXON Missense_T13A,Silent exm533627 6 31939823 [A/G] NM_005510,NR_026717,NM_004197,NM_032454 DOM3Z,STK19,STK19,STK19 EXON Silent,Silent,Nonsense_W17X,Nonsense_W17X exm533628 6 31939837 [T/C] NM_005510,NR_026717,NM_004197,NM_032454 DOM3Z,STK19,STK19,STK19 EXON Silent,Silent,Missense_S22P,Missense_S22P exm533643 6 31940160 [G/C] NR_026717,NM_004197,NM_032454 STK19,STK19,STK19 EXON Silent,Missense_P101R,Missense_P101R exm533653 6 31940287 [A/G] NR_026717,NM_004197,NM_032454 STK19,STK19,STK19 EXON Silent,Synonymous_P143P,Synonymous_P143P exm-rs389884 6 31940897 [A/G] NR_026717,NM_004197,NM_032454 STK19,STK19,STK19 Silent,Silent,Silent exm-rs387608 6 31941557 [A/G] NR_026717,NM_004197,NM_032454 STK19,STK19,STK19 Silent,Silent,Silent exm-rs6941112 6 31946614 [A/G] NR_026717,NM_004197,NM_032454 STK19,STK19,STK19 Silent,Silent,Silent exm-rs389883 6 31947460 [T/G] NR_026717,NM_004197,NM_032454 STK19,STK19,STK19 Silent,Silent,Silent exm-rs389512 6 31947594 [C/G] NR_026717,NM_004197,NM_032454 STK19,STK19,STK19 Silent,Silent,Silent exm533678 6 31948275 [A/G] NR_026717,NM_004197,NM_032454 STK19,STK19,STK19 EXON Silent,Nonsense_W284X,Nonsense_W288X exm533718 6 31963844 [A/G] NM_007293,NM_001002029,NM_001252204,NM_001242823 C4A,C4B,C4A,C4B_2 EXON Missense_G1115S,Missense_G1115S,Missense_G1115S,Missense_G1115S exm533943 6 32011639 [T/C] NM_032470,NM_019105 TNXB,TNXB EXON Missense_Q235R,Missense_Q3804R exm2121666 6 32013975 [A/G] NM_019105 TNXB EXON Missense_P3526L exm533987 6 32015577 [T/C] NM_019105 TNXB EXON Missense_R3418G exm533998 6 32015775 [A/G] NM_019105 TNXB EXON Missense_P3352S exm534001 6 32016167 [T/C] NM_019105 TNXB EXON Missense_G3338S exm534005 6 32016239 [T/C] NM_019105 TNXB EXON Missense_A3314T exm-rs10046127 6 32017521 [T/C] NM_019105 TNXB Silent exm-rs12333245 6 32019769 [A/G] NM_019105 TNXB Silent exm-rs9267796 6 32023425 [T/C] NM_019105 TNXB Silent exm534089 6 32023663 [T/C] NM_019105 TNXB EXON Missense_R2811Q exm-rs12524441 6 32024234 [A/G] NM_019105 TNXB Silent exm534102 6 32024395 [T/C] NM_019105 TNXB EXON Missense_R2704H exm534122 6 32025966 [A/G] NM_019105 TNXB EXON Missense_A2565V exm-rs12198173 6 32026808 [A/G] NM_019105 TNXB Silent exm534134 6 32029180 [T/C] NM_019105 TNXB EXON Missense_V2496M exm534135 6 32029183 [T/C] NM_019105 TNXB EXON Missense_G2495S exm534159 6 32030051 [T/C] NM_019105 TNXB EXON Missense_G2351R exm534170 6 32032628 [C/G] NM_019105 TNXB EXON Missense_V2271L exm534177 6 32032756 [A/T] NM_019105 TNXB EXON Missense_F2228Y exm534179 6 32032790 [T/G] NM_019105 TNXB EXON Missense_P2217T exm-rs3749962 6 32036357 [A/G] NM_019105 TNXB EXON Synonymous_P2010P exm534217 6 32036449 [T/C] NM_019105 TNXB EXON Missense_A1980T exm534219 6 32036668 [A/G] NM_019105 TNXB EXON Missense_Y1945H exm534226 6 32036755 [T/C] NM_019105 TNXB EXON Missense_T1916A exm534227 6 32036788 [T/C] NM_019105 TNXB EXON Missense_E1905K exm2243871 6 32036835 [A/G] NM_019105 TNXB EXON Missense_V1889A exm534231 6 32037369 [T/C] NM_019105 TNXB EXON Missense_G1850S exm534233 6 32037426 [T/C] NM_019105 TNXB EXON Missense_V1831M exm534234 6 32037429 [T/G] NM_019105 TNXB EXON Missense_S1830R exm534236 6 32037501 [A/G] NM_019105 TNXB EXON Missense_F1806L exm534243 6 32038027 [T/C] NM_019105 TNXB EXON Missense_V1719M exm534246 6 32038079 [T/G] NM_019105 TNXB EXON Missense_F1701L exm534247 6 32038098 [A/G] NM_019105 TNXB EXON Missense_T1695M exm-rs2071295 6 32038700 [T/C] NM_019105 TNXB Silent exm2121731 6 32039800 [A/G] NM_019105 TNXB EXON Nonsense_R1653X exm534253 6 32039872 [T/C] NM_019105 TNXB EXON Missense_E1629K exm-rs11751545 6 32041043 [A/C] NM_019105 TNXB Silent exm534261 6 32041543 [A/G] NM_019105 TNXB EXON Missense_A1521V exm534264 6 32041621 [A/G] NM_019105 TNXB EXON Missense_T1495I exm-rs9267798 6 32044834 [C/G] NM_019105 TNXB Silent exm-rs7774197 6 32046275 [A/C] NM_019105 TNXB Silent exm534269 6 32046816 [T/C] NM_019105 TNXB EXON Missense_V1457M exm534283 6 32049177 [T/C] NM_019105 TNXB EXON Missense_R1337H exm534292 6 32049423 [T/C] NM_019105 TNXB EXON Missense_R1255H exm534294 6 32049429 [T/G] NM_019105 TNXB EXON Missense_P1253H exm534298 6 32049895 [T/G] NM_019105 TNXB EXON Missense_D1218E exm534302 6 32050061 [T/C] NM_019105 TNXB EXON Missense_G1163E exm534303 6 32050067 [T/C] NM_019105 TNXB EXON Missense_H1161R exm-rs1150754 6 32050758 [T/C] NM_019105 TNXB Silent exm534307 6 32052216 [T/C] NM_019105 TNXB EXON Missense_G1140D exm534315 6 32052313 [T/C] NM_019105 TNXB EXON Missense_V1108M exm534317 6 32052358 [T/C] NM_019105 TNXB EXON Missense_V1093M exm534318 6 32052363 [T/G] NM_019105 TNXB EXON Missense_S1091Y exm534319 6 32052409 [T/C] NM_019105 TNXB EXON Missense_D1076N exm534322 6 32052444 [T/C] NM_019105 TNXB EXON Missense_R1064H exm-rs169496 6 32052983 [T/C] NM_019105 TNXB Silent exm534324 6 32053527 [T/C] NM_019105 TNXB EXON Missense_D1050N exm534327 6 32053637 [T/C] NM_019105 TNXB EXON Missense_R1013H exm534330 6 32053695 [A/G] NM_019105 TNXB EXON Missense_R994C exm534332 6 32053730 [A/G] NM_019105 TNXB EXON Missense_T982I exm534333 6 32053748 [T/C] NM_019105 TNXB EXON Missense_R976H exm-rs2239688 6 32054212 [G/C] NM_019105 TNXB Silent exm534345 6 32056580 [A/C] NM_019105 TNXB EXON Missense_S921A exm534349 6 32056625 [A/C] NM_019105 TNXB EXON Missense_V906L exm534352 6 32056708 [T/C] NM_019105 TNXB EXON Missense_G878D exm534358 6 32057030 [T/C] NM_019105 TNXB EXON Missense_G829S exm534362 6 32057125 [T/C] NM_019105 TNXB EXON Missense_R797Q exm-rs2071293 6 32062687 [A/G] NM_019105 TNXB Silent exm534369 6 32063460 [A/G] NM_019105 TNXB EXON Missense_R724C exm534373 6 32063558 [T/C] NM_019105 TNXB EXON Missense_G691D exm534375 6 32063600 [T/C] NM_019105 TNXB EXON Missense_D677G exm534379 6 32063681 [T/C] NM_019105 TNXB EXON Missense_R650H exm534385 6 32063793 [T/C] NM_019105 TNXB EXON Missense_S613G exm534393 6 32064098 [T/C] NM_019105 TNXB EXON Missense_R511H exm534416 6 32064726 [T/C] NM_019105 TNXB EXON Missense_T302A exm534431 6 32065113 [T/C] NM_019105 TNXB EXON Missense_A173T exm534439 6 32065765 [A/C] NM_019105 TNXB EXON Missense_V71L exm534441 6 32065779 [C/G] NM_019105 TNXB EXON Missense_G66A exm534446 6 32065863 [T/C] NM_019105 TNXB EXON Missense_R38Q exm534448 6 32065890 [T/C] NM_019105 TNXB EXON Missense_R29Q exm-rs204895 6 32066220 [T/C] NM_019105 TNXB Silent exm-rs1269854 6 32070838 [T/C] NM_019105 TNXB Silent exm-rs3134954 6 32071893 [T/C] NM_019105 TNXB Silent exm-rs439844 6 32072940 [T/C] NM_019105 TNXB Silent exm-rs12153855 6 32074804 [T/C] NM_019105 TNXB Silent exm-rs411337 6 32077380 [T/C] exm-rs3807039 6 32078373 [A/C] exm-rs3130342 6 32080146 [A/C] exm-rs8111 6 32083175 [T/C] NM_001136153,NM_004381 ATF6B,ATF6B EXON Silent,Silent exm-rs8283 6 32083300 [A/G] NM_001136153,NM_004381 ATF6B,ATF6B EXON Silent,Silent exm534451 6 32083536 [T/G] NM_001136153,NM_004381 ATF6B,ATF6B EXON Missense_L695I,Missense_L698I exm534463 6 32084259 [T/C] NM_001136153,NM_004381 ATF6B,ATF6B EXON Missense_N624S,Missense_N627S exm534467 6 32084485 [T/C] NM_001136153,NM_004381 ATF6B,ATF6B EXON Missense_R595Q,Missense_R598Q exm-rs6926448 6 32084547 [T/C] NM_001136153,NM_004381 ATF6B,ATF6B EXON Synonymous_S574S,Synonymous_S577S exm2243875 6 32084867 [A/C] NM_001136153,NM_004381 ATF6B,ATF6B EXON Missense_K541N,Missense_K544N exm534474 6 32084871 [T/C] NM_001136153,NM_004381 ATF6B,ATF6B EXON Missense_R540Q,Missense_R543Q exm-rs204890 6 32085598 [T/C] NM_001136153,NM_004381 ATF6B,ATF6B Silent,Silent exm2121766 6 32085655 [T/C] NM_001136153,NM_004381 ATF6B,ATF6B EXON Missense_T466A,Missense_T469A exm534495 6 32086870 [G/C] NM_001136153,NM_004381 ATF6B,ATF6B EXON Missense_A336P,Missense_A339P exm534498 6 32087609 [C/G] NM_001136153,NM_004381 ATF6B,ATF6B EXON Missense_E317Q,Missense_E320Q exm534500 6 32087633 [T/C] NM_001136153,NM_004381 ATF6B,ATF6B EXON Missense_M309V,Missense_M312V exm534505 6 32087734 [A/T] NM_001136153,NM_004381 ATF6B,ATF6B EXON Missense_V275E,Missense_V278E exm534510 6 32088602 [A/C] NM_001136153,NM_004381 ATF6B,ATF6B EXON Missense_A257S,Missense_A260S exm534512 6 32088813 [A/T] NM_001136153,NM_004381 ATF6B,ATF6B EXON Missense_L215H,Missense_L218H exm534513 6 32088850 [A/G] NM_001136153,NM_004381 ATF6B,ATF6B EXON Missense_S203P,Missense_S206P exm-rs2228628 6 32088854 [G/C] NM_001136153,NM_004381 ATF6B,ATF6B EXON Synonymous_S201S,Synonymous_S204S exm-rs204888 6 32089142 [T/G] NM_001136153,NM_004381 ATF6B,ATF6B Silent,Silent exm-rs1269851 6 32092207 [T/C] NM_001136153,NM_004381 ATF6B,ATF6B Silent,Silent exm534522 6 32093900 [A/C] NM_001136153,NM_004381 ATF6B,ATF6B EXON Missense_S155A,Missense_S158A exm-rs204894 6 32093922 [A/G] NM_001136153,NM_004381 ATF6B,ATF6B EXON Synonymous_N147N,Synonymous_N150N exm534536 6 32095465 [A/G] NM_001136153,NM_004381 ATF6B,ATF6B EXON Missense_P49S,Missense_P52S exm-rs3830076 6 32096244 [T/C] exm534558 6 32097091 [G/C] NM_022110 FKBPL EXON Missense_W156S exm2121795 6 32097148 [A/G] NM_022110 FKBPL EXON Missense_P137L exm534565 6 32097290 [T/C] NM_022110 FKBPL EXON Missense_A90T exm534568 6 32097421 [G/C] NM_022110 FKBPL EXON Missense_T46R exm534571 6 32097475 [T/C] NM_022110 FKBPL EXON Missense_N28S exm-rs169494 6 32097876 [A/G] NM_022110 FKBPL EXON Silent exm-rs11962353 6 32100077 [A/G] exm-rs4713505 6 32105001 [T/G] exm-rs204999 6 32109979 [A/G] exm-rs3130279 6 32112626 [A/G] exm-rs4713506 6 32113980 [A/G] exm534582 6 32117456 [C/G] NM_030651 PRRT1 EXON Missense_T201S exm2121798 6 32117478 [T/C] NM_030651 PRRT1 EXON Missense_G194R exm-rs11751247 6 32117658 [T/C] NM_030651 PRRT1 Silent exm-rs3131283 6 32119898 [T/C] exm-rs1053924 6 32120715 [T/C] NR_037169,NR_037172,NR_037171,NR_037170 LOC100507547,LOC100507547,LOC100507547,LOC100507547 EXON Silent,Silent,Silent,Silent exm534604 6 32122386 [C/G] NM_138717,NM_001204103,NR_037861,NM_005155 PPT2,PPT2,PPT2-EGFL8,PPT2 EXON Missense_C11W,Missense_C5W,Silent,Missense_C5W exm534606 6 32122431 [A/C] NM_138717,NM_001204103,NR_037861,NM_005155 PPT2,PPT2,PPT2-EGFL8,PPT2 EXON Missense_F26L,Missense_F20L,Silent,Missense_F20L exm534608 6 32122472 [A/C] NM_138717,NM_001204103,NR_037861,NM_005155 PPT2,PPT2,PPT2-EGFL8,PPT2 EXON Missense_A40E,Missense_A34E,Silent,Missense_A34E exm534610 6 32122550 [A/G] NM_138717,NM_001204103,NR_037861,NM_005155 PPT2,PPT2,PPT2-EGFL8,PPT2 EXON Missense_N66S,Missense_N60S,Silent,Missense_N60S exm534616 6 32123494 [A/G] NM_138717,NM_001204103,NR_037861,NM_005155 PPT2,PPT2,PPT2-EGFL8,PPT2 EXON Missense_V129I,Missense_V123I,Silent,Missense_V123I exm-rs3134950 6 32127477 [A/C] NM_138717,NM_001204103,NR_037861,NM_005155 PPT2,PPT2,PPT2-EGFL8,PPT2 Silent,Silent,Silent,Silent exm2257756 6 32130390 [A/G] NM_138717,NM_001204103,NR_037861,NM_005155 PPT2,PPT2,PPT2-EGFL8,PPT2 EXON Synonymous_E258E,Synonymous_E252E,Silent,Synonymous_E252E exm2257757 6 32130655 [T/C] NM_138717,NM_001204103,NR_037861,NM_005155 PPT2,PPT2,PPT2-EGFL8,PPT2 EXON Synonymous_A285A,Synonymous_A279A,Silent,Synonymous_A279A exm534630 6 32130686 [T/C] NM_138717,NM_001204103,NR_037861,NM_005155 PPT2,PPT2,PPT2-EGFL8,PPT2 EXON Missense_R296C,Missense_R290C,Silent,Missense_R290C exm534644 6 32133976 [A/G] NR_037861,NR_037860,NM_030652 PPT2-EGFL8,EGFL8,EGFL8 EXON Silent,Silent,Missense_G12S exm534650 6 32134378 [T/C] NR_037861,NR_037860,NM_030652 PPT2-EGFL8,EGFL8,EGFL8 EXON Silent,Silent,Missense_R69C exm534651 6 32134395 [C/G] NR_037861,NR_037860,NM_030652 PPT2-EGFL8,EGFL8,EGFL8 EXON Silent,Silent,Nonsense_Y74X exm534652 6 32134489 [A/G] NR_037861,NR_037860,NM_030652 PPT2-EGFL8,EGFL8,EGFL8 EXON Silent,Silent,Missense_R79H exm534654 6 32134510 [A/G] NR_037861,NR_037860,NM_030652 PPT2-EGFL8,EGFL8,EGFL8 EXON Silent,Silent,Missense_R86K exm534667 6 32134870 [A/G] NR_037861,NR_037860,NM_030652 PPT2-EGFL8,EGFL8,EGFL8 EXON Silent,Silent,Missense_D146G exm2121816 6 32134906 [A/G] NR_037861,NR_037860,NM_030652 PPT2-EGFL8,EGFL8,EGFL8 EXON Silent,Silent,Missense_H158R exm534671 6 32135005 [T/C] NR_037861,NR_037860,NM_030652 PPT2-EGFL8,EGFL8,EGFL8 EXON Silent,Silent,Missense_P191L exm534674 6 32135136 [A/C] NR_037861,NR_037860,NM_030652 PPT2-EGFL8,EGFL8,EGFL8 EXON Silent,Silent,Missense_A204E exm534678 6 32135181 [T/G] NR_037861,NR_037860,NM_030652 PPT2-EGFL8,EGFL8,EGFL8 EXON Silent,Silent,Missense_R219L exm534682 6 32135286 [T/G] NR_037861,NR_037860,NM_030652 PPT2-EGFL8,EGFL8,EGFL8 EXON Silent,Silent,Missense_G230C exm534691 6 32135719 [A/G] NR_037861,NR_037860,NM_030652 PPT2-EGFL8,EGFL8,EGFL8 EXON Silent,Silent,Missense_V290I exm-rs205000 6 32135878 [C/G] NR_037861,NR_037860,NM_030652 PPT2-EGFL8,EGFL8,EGFL8 EXON Silent,Silent,Silent exm-rs1061808 6 32136547 [T/G] NM_032741,NM_006411 AGPAT1,AGPAT1 EXON Silent,Silent exm534716 6 32139087 [T/C] NM_032741,NM_006411 AGPAT1,AGPAT1 EXON Missense_V63I,Missense_V63I exm534717 6 32139186 [A/G] NM_032741,NM_006411 AGPAT1,AGPAT1 EXON Missense_P30S,Missense_P30S exm-rs3130284 6 32140487 [T/C] NM_032741,NM_006411 AGPAT1,AGPAT1 Silent,Silent exm-rs408359 6 32141883 [A/G] NM_032741,NM_006411 AGPAT1,AGPAT1 Silent,Silent exm-rs3134948 6 32143423 [A/G] NM_032741,NM_006411 AGPAT1,AGPAT1 Silent,Silent exm-rs3134947 6 32145205 [T/C] NM_032741 AGPAT1 Silent exm-rs2269423 6 32145707 [A/C] NM_032741 AGPAT1 Silent exm-rs3134946 6 32145993 [G/C] exm2121830 6 32147691 [A/G] NM_006913,NR_003129 RNF5,RNF5P1 EXON Missense_A104T,Silent exm-rs3130349 6 32147696 [A/G] NM_006913,NR_003129 RNF5,RNF5P1 EXON Synonymous_P105P,Silent exm-rs3134943 6 32147761 [T/C] NM_006913,NR_003129 RNF5,RNF5P1 Silent,Silent exm534759 6 32149140 [T/C] NM_001206932,NM_001206929,NM_001206966,NM_001206934,NM_001206940,NM_001206954,NM_001136,NR_038190,NM_172197,NM_001206936 AGER,AGER,AGER,AGER,AGER,AGER,AGER,AGER,AGER,AGER EXON Missense_R355Q,Missense_R385Q,Silent,Silent,Silent,Silent,Missense_R369Q,Silent,Synonymous_P317P,Silent exm534760 6 32149141 [C/G] NM_001206932,NM_001206929,NM_001206966,NM_001206934,NM_001206940,NM_001206954,NM_001136,NR_038190,NM_172197,NM_001206936 AGER,AGER,AGER,AGER,AGER,AGER,AGER,AGER,AGER,AGER EXON Missense_R355G,Missense_R385G,Silent,Silent,Silent,Silent,Missense_R369G,Silent,Missense_P317R,Silent exm534767 6 32149219 [A/G] NM_001206932,NM_001206929,NM_001206966,NM_001206934,NM_001206940,NM_001206954,NM_001136,NR_038190,NM_172197,NM_001206936 AGER,AGER,AGER,AGER,AGER,AGER,AGER,AGER,AGER,AGER EXON Synonymous_L329L,Synonymous_L359L,Silent,Silent,Silent,Silent,Synonymous_L343L,Silent,Missense_P291L,Silent exm-rs2071288 6 32149260 [T/C] NM_001206932,NM_001206929,NM_001206966,NM_001206934,NM_001206940,NM_001206954,NM_001136,NR_038190,NM_172197,NM_001206936 AGER,AGER,AGER,AGER,AGER,AGER,AGER,AGER,AGER,AGER Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm534776 6 32150047 [T/C] NM_001206932,NM_001206929,NM_001206966,NM_001206934,NM_001206940,NM_001206954,NM_001136,NR_038190,NM_172197,NM_001206936 AGER,AGER,AGER,AGER,AGER,AGER,AGER,AGER,AGER,AGER EXON Missense_R300H,Missense_R330H,Missense_R314H,Missense_R330H,Missense_R314H,Silent,Missense_R314H,Silent,Silent,Missense_V297M exm534777 6 32150063 [T/C] NM_001206932,NM_001206929,NM_001206966,NM_001206934,NM_001206940,NM_001206954,NM_001136,NR_038190,NM_172197,NM_001206936 AGER,AGER,AGER,AGER,AGER,AGER,AGER,AGER,AGER,AGER EXON Missense_G295R,Missense_G325R,Missense_G309R,Missense_G325R,Missense_G309R,Silent,Missense_G309R,Silent,Silent,Synonymous_T291T exm2121838 6 32150086 [C/G] NM_001206932,NM_001206929,NM_001206966,NM_001206934,NM_001206940,NM_001206954,NM_001136,NR_038190,NM_172197,NM_001206936 AGER,AGER,AGER,AGER,AGER,AGER,AGER,AGER,AGER,AGER EXON Missense_C287S,Missense_C317S,Missense_C301S,Missense_C317S,Missense_C301S,Silent,Missense_C301S,Silent,Silent,Missense_V284L exm534779 6 32150110 [A/G] NM_001206932,NM_001206929,NM_001206966,NM_001206934,NM_001206940,NM_001206954,NM_001136,NR_038190,NM_172197,NM_001206936 AGER,AGER,AGER,AGER,AGER,AGER,AGER,AGER,AGER,AGER EXON Missense_P279L,Missense_P309L,Missense_P293L,Missense_P309L,Missense_P293L,Silent,Missense_P293L,Silent,Silent,Missense_L276F exm534781 6 32150356 [T/A] NM_001206932,NM_001206929,NM_001206966,NM_001206934,NM_001206940,NM_001206954,NM_001136,NR_038190,NM_172197,NM_001206936 AGER,AGER,AGER,AGER,AGER,AGER,AGER,AGER,AGER,AGER EXON Missense_W257R,Missense_W287R,Missense_W271R,Missense_W287R,Missense_W271R,Missense_W271R,Missense_W271R,Silent,Missense_W257R,Missense_W271R exm534782 6 32150385 [T/A] NM_001206932,NM_001206929,NM_001206966,NM_001206934,NM_001206940,NM_001206954,NM_001136,NR_038190,NM_172197,NM_001206936 AGER,AGER,AGER,AGER,AGER,AGER,AGER,AGER,AGER,AGER EXON Missense_V247D,Missense_V277D,Missense_V261D,Missense_V277D,Missense_V261D,Missense_V261D,Missense_V261D,Silent,Missense_V247D,Missense_V261D exm534796 6 32150663 [A/G] NM_001206932,NM_001206929,NM_001206966,NM_001206934,NM_001206940,NM_001206954,NM_001136,NR_038190,NM_172197,NM_001206936 AGER,AGER,AGER,AGER,AGER,AGER,AGER,AGER,AGER,AGER EXON Nonsense_R202X,Nonsense_R232X,Nonsense_R216X,Nonsense_R232X,Nonsense_R216X,Nonsense_R216X,Nonsense_R216X,Silent,Nonsense_R202X,Nonsense_R216X exm534801 6 32150890 [A/C] NM_001206932,NM_001206929,NM_001206966,NM_001206934,NM_001206940,NM_001206954,NM_001136,NR_038190,NM_172197,NM_001206936 AGER,AGER,AGER,AGER,AGER,AGER,AGER,AGER,AGER,AGER Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm-rs1035798 6 32151222 [A/G] NM_001206932,NM_001206929,NM_001206966,NM_001206934,NM_001206940,NM_001206954,NM_001136,NR_038190,NM_172197,NM_001206936 AGER,AGER,AGER,AGER,AGER,AGER,AGER,AGER,AGER,AGER Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm534819 6 32151443 [T/C] NM_001206932,NM_001206929,NM_001206966,NM_001206934,NM_001206940,NM_001206954,NM_001136,NR_038190,NM_172197,NM_001206936 AGER,AGER,AGER,AGER,AGER,AGER,AGER,AGER,AGER,AGER EXON Missense_G68S,Missense_G82S,Missense_G82S,Missense_G82S,Missense_G82S,Missense_G82S,Missense_G82S,Silent,Missense_G68S,Missense_G82S exm534821 6 32151458 [A/G] NM_001206932,NM_001206929,NM_001206966,NM_001206934,NM_001206940,NM_001206954,NM_001136,NR_038190,NM_172197,NM_001206936 AGER,AGER,AGER,AGER,AGER,AGER,AGER,AGER,AGER,AGER EXON Missense_R63C,Missense_R77C,Missense_R77C,Missense_R77C,Missense_R77C,Missense_R77C,Missense_R77C,Silent,Missense_R63C,Missense_R77C exm534825 6 32151664 [T/C] NM_001206932,NM_001206929,NM_001206966,NM_001206934,NM_001206940,NM_001206954,NM_001136,NR_038190,NM_172197,NM_001206936 AGER,AGER,AGER,AGER,AGER,AGER,AGER,AGER,AGER,AGER EXON Nonsense_W51X,Nonsense_W51X,Nonsense_W51X,Nonsense_W51X,Nonsense_W51X,Nonsense_W51X,Nonsense_W51X,Silent,Nonsense_W51X,Nonsense_W51X exm-rs204995 6 32154285 [A/G] NM_002586 PBX2 Silent exm534847 6 32154639 [A/G] NM_002586 PBX2 EXON Missense_M355T exm-rs204994 6 32154998 [T/C] NM_002586 PBX2 Silent exm-rs204993 6 32155581 [A/G] NM_002586 PBX2 Silent exm534866 6 32155917 [A/G] NM_002586 PBX2 EXON Missense_T187M exm-rs2071292 6 32155948 [A/G] NM_002586 PBX2 Silent exm-rs2022059 6 32156489 [G/C] NM_002586 PBX2 Silent exm-rs204992 6 32156908 [A/G] NM_002586 PBX2 Silent exm-rs176095 6 32158319 [A/G] exm534893 6 32159157 [T/G] NM_022107,NM_001276501 GPSM3,GPSM3 EXON Missense_T157P,Missense_T157P exm534899 6 32159674 [A/G] NM_022107,NM_001276501 GPSM3,GPSM3 EXON Missense_R53C,Missense_R53C exm-rs204991 6 32161366 [T/C] NM_022107 GPSM3 Silent exm2121871 6 32163558 [A/C] NM_004557 NOTCH4 EXON Missense_G1890W exm-rs8192582 6 32163612 [T/C] NM_004557 NOTCH4 EXON Missense_G1872R exm534926 6 32163614 [T/C] NM_004557 NOTCH4 EXON Missense_R1871H exm534943 6 32164819 [T/C] NM_004557 NOTCH4 EXON Missense_D1695N exm534948 6 32165201 [A/G] NM_004557 NOTCH4 EXON Nonsense_R1643X exm-rs2071278 6 32165444 [A/G] NM_004557 NOTCH4 Silent exm-rs8192575 6 32166384 [C/G] NM_004557 NOTCH4 Silent exm534962 6 32166811 [T/C] NM_004557 NOTCH4 EXON Missense_R1476Q exm534983 6 32168996 [C/G] NM_004557 NOTCH4 EXON Missense_R1346P exm-rs9404991 6 32169288 [A/G] NM_004557 NOTCH4 Silent exm534999 6 32169971 [G/C] NM_004557 NOTCH4 EXON Missense_G1213R exm535000 6 32170009 [T/C] NM_004557 NOTCH4 EXON Missense_G1200E exm535002 6 32170037 [A/G] NM_004557 NOTCH4 EXON Missense_C1191R exm535007 6 32170115 [A/G] NM_004557 NOTCH4 EXON Missense_S1165P exm535009 6 32170247 [T/C] NM_004557 NOTCH4 EXON Missense_G1121R exm535010 6 32170264 [T/G] NM_004557 NOTCH4 EXON Missense_A1115D exm535014 6 32170313 [T/C] NM_004557 NOTCH4 EXON Missense_G1099R exm-rs2071287 6 32170433 [T/C] NM_004557 NOTCH4 Silent exm535024 6 32171632 [A/G] NM_004557 NOTCH4 EXON Missense_P1049L exm535032 6 32172124 [T/C] NM_004557 NOTCH4 EXON Missense_D970N exm-rs3131296 6 32172993 [T/C] NM_004557 NOTCH4 Silent exm-rs206018 6 32177880 [G/C] NM_004557 NOTCH4 Silent exm535035 6 32178560 [T/C] NM_004557 NOTCH4 EXON Missense_C945Y exm535036 6 32178570 [T/C] NM_004557 NOTCH4 EXON Missense_G942R exm535038 6 32178603 [T/C] NM_004557 NOTCH4 EXON Missense_V931M exm535041 6 32178638 [A/G] NM_004557 NOTCH4 EXON Missense_P919L exm-rs2071286 6 32179896 [T/C] NM_004557 NOTCH4 Silent exm-rs2071285 6 32180431 [T/A] NM_004557 NOTCH4 Silent exm535055 6 32180623 [A/C] NM_004557 NOTCH4 EXON Missense_G835V exm535057 6 32180684 [A/C] NM_004557 NOTCH4 EXON Missense_C815G exm535062 6 32181483 [T/C] NM_004557 NOTCH4 EXON Missense_T768A exm535072 6 32182013 [T/C] NM_004557 NOTCH4 EXON Missense_V681M exm535073 6 32182016 [T/C] NM_004557 NOTCH4 EXON Missense_D680N exm-rs404860 6 32184345 [T/C] NM_004557 NOTCH4 Silent exm535088 6 32184835 [T/C] NM_004557 NOTCH4 EXON Missense_G583E exm535099 6 32185796 [T/C] NM_004557 NOTCH4 EXON Missense_G534S exm2121905 6 32185820 [T/C] NM_004557 NOTCH4 EXON Missense_A526T exm2121907 6 32185857 [C/G] NM_004557 NOTCH4 EXON Missense_E513D exm-rs379464 6 32186348 [T/C] NM_004557 NOTCH4 Silent exm-rs394657 6 32187023 [A/G] NM_004557 NOTCH4 Silent exm-rs429853 6 32187202 [T/C] NM_004557 NOTCH4 Silent exm2257758 6 32187391 [A/G] NM_004557 NOTCH4 EXON Synonymous_T496T exm535106 6 32187420 [T/C] NM_004557 NOTCH4 EXON Missense_G487R exm535109 6 32187516 [T/C] NM_004557 NOTCH4 EXON Missense_T455A exm2275227 6 32187906 [G/C] NM_004557 NOTCH4 EXON Missense_A439P exm-rs423023 6 32188297 [C/G] NM_004557 NOTCH4 EXON Synonymous_G348G exm535126 6 32188317 [T/C] NM_004557 NOTCH4 EXON Missense_V342M exm535130 6 32188383 [T/C] NM_004557 NOTCH4 EXON Missense_T320A exm535131 6 32188550 [T/C] NM_004557 NOTCH4 EXON Missense_C302Y exm535134 6 32188640 [T/C] NM_004557 NOTCH4 EXON Missense_D272G exm535141 6 32188785 [A/C] NM_004557 NOTCH4 EXON Missense_S257A exm535142 6 32188815 [C/G] NM_004557 NOTCH4 EXON Missense_G247R exm535144 6 32188823 [A/G] NM_004557 NOTCH4 EXON Missense_S244L exm535145 6 32188865 [T/C] NM_004557 NOTCH4 EXON Missense_R230H exm535153 6 32188943 [A/G] NM_004557 NOTCH4 EXON Missense_P204L exm-rs415929 6 32189032 [T/C] NM_004557 NOTCH4 EXON Synonymous_T174T exm-rs3132946 6 32190028 [A/G] NM_004557 NOTCH4 Silent exm535168 6 32190440 [T/C] NM_004557 NOTCH4 EXON Missense_S100N exm535176 6 32190549 [A/T] NM_004557 NOTCH4 EXON Missense_F64I exm535177 6 32190550 [C/G] NM_004557 NOTCH4 EXON Missense_Q63H exm-rs3830041 6 32191339 [T/C] NM_004557 NOTCH4 Silent exm-rs396960 6 32191581 [A/T] NM_004557 NOTCH4 Silent exm-rs3096702 6 32192331 [A/G] exm-rs2267644 6 32192560 [A/G] exm-rs499691 6 32194339 [T/C] exm-rs1475961 6 32194609 [A/G] exm-rs532385 6 32195359 [A/G] exm-rs365053 6 32195988 [T/G] exm-rs495089 6 32197463 [A/G] exm-rs404890 6 32198867 [A/C] exm2262115 6 32199352 [T/C] exm-rs3134926 6 32200147 [G/C] exm-rs12182351 6 32201707 [T/C] exm-rs549270 6 32205072 [T/C] exm-rs6901158 6 32205942 [T/C] exm-rs416352 6 32207393 [T/G] exm-rs424232 6 32208324 [T/C] exm-rs507778 6 32209861 [T/C] exm-rs9267954 6 32213052 [T/A] exm-rs440169 6 32213788 [A/G] exm-rs1559876 6 32215769 [C/G] exm-rs2894239 6 32215796 [T/G] exm-rs2395110 6 32215876 [A/G] exm-rs6936204 6 32217092 [T/C] exm-rs3115573 6 32218843 [A/G] exm-rs9296015 6 32218989 [A/G] exm-rs4959089 6 32219725 [A/G] exm-rs3115572 6 32220484 [C/G] exm-rs3130320 6 32223258 [T/C] exm-rs3115569 6 32224139 [A/G] exm-rs3132931 6 32235895 [T/G] exm-rs3132945 6 32238680 [A/G] exm-rs1559874 6 32243155 [A/G] exm-rs3130340 6 32244627 [T/C] exm-rs3115553 6 32245827 [T/C] exm-rs9268137 6 32255269 [A/G] exm-rs4713518 6 32257337 [A/G] exm-rs926070 6 32257566 [A/G] exm-rs9268148 6 32259527 [A/G] exm-rs6935269 6 32260350 [T/C] exm535213 6 32260914 [A/T] NM_006781 C6orf10 EXON Missense_X430K exm535220 6 32261064 [A/C] NM_006781 C6orf10 EXON Missense_G380C exm535225 6 32261153 [T/C] NM_006781 C6orf10 EXON Missense_G350D exm535226 6 32261158 [G/C] NM_006781 C6orf10 EXON Missense_D348E exm535228 6 32261200 [T/G] NM_006781 C6orf10 EXON Missense_X334C exm535230 6 32261252 [T/G] NM_006781 C6orf10 EXON Missense_E317A exm535231 6 32261291 [G/C] NM_006781 C6orf10 EXON Nonsense_S304X exm535239 6 32261507 [T/C] NM_006781 C6orf10 EXON Missense_Y232C exm535243 6 32261630 [A/G] NM_006781 C6orf10 EXON Missense_A191V exm535248 6 32261728 [G/C] NM_006781 C6orf10 EXON Missense_K158N exm535251 6 32261771 [A/G] NM_006781 C6orf10 EXON Missense_I144T exm535252 6 32261790 [A/G] NM_006781 C6orf10 EXON Missense_X138R exm-rs6910668 6 32263458 [T/G] NM_006781 C6orf10 Silent exm-rs11751697 6 32266425 [T/C] NM_006781 C6orf10 Silent exm-rs537757 6 32268501 [T/A] NM_006781 C6orf10 Silent exm-rs6909427 6 32268701 [T/G] NM_006781 C6orf10 Silent exm-rs477005 6 32270500 [A/G] NM_006781 C6orf10 Silent exm-rs9268168 6 32272510 [T/C] NM_006781 C6orf10 Silent exm-rs6457536 6 32273765 [A/G] NM_006781 C6orf10 Silent exm-rs7341328 6 32275194 [A/G] NM_006781 C6orf10 Silent exm-rs547261 6 32282033 [A/G] NM_006781 C6orf10 Silent exm-rs6910071 6 32282854 [A/G] NM_006781 C6orf10 Silent exm-rs3749967 6 32283844 [T/C] NM_006781 C6orf10 Silent exm-rs531094 6 32286102 [A/T] NM_006781 C6orf10 Silent exm-rs547077 6 32289318 [T/C] NM_006781 C6orf10 Silent exm-rs9501610 6 32291407 [G/C] NM_006781 C6orf10 Silent exm-rs505274 6 32294992 [A/G] NM_006781 C6orf10 Silent exm-rs3132958 6 32297901 [A/G] NM_006781 C6orf10 Silent exm-rs9405090 6 32298372 [A/G] NM_006781 C6orf10 Silent exm-rs3129949 6 32298814 [A/C] NM_006781 C6orf10 Silent exm-rs3132959 6 32298942 [A/G] NM_006781 C6orf10 Silent exm-rs742582 6 32299715 [A/G] NM_006781 C6orf10 Silent exm-rs1003878 6 32299822 [A/G] NM_006781 C6orf10 Silent exm-rs7775149 6 32301890 [T/C] NM_006781 C6orf10 Silent exm-rs6929776 6 32303511 [A/G] NM_006781 C6orf10 Silent exm-rs1265754 6 32303692 [A/T] NM_006781 C6orf10 Silent exm-rs3129900 6 32305979 [T/G] NM_006781 C6orf10 Silent exm535313 6 32307382 [A/G] NM_006781 C6orf10 EXON Missense_P128L exm535314 6 32307410 [T/C] NM_006781 C6orf10 EXON Missense_I119V exm-rs2143465 6 32309352 [T/C] NM_006781 C6orf10 Silent exm-rs3129904 6 32310396 [A/G] NM_006781 C6orf10 Silent exm-rs6904320 6 32312082 [A/G] NM_006781 C6orf10 Silent exm-rs1265764 6 32313659 [A/G] NM_006781 C6orf10 Silent exm-rs910050 6 32315654 [C/G] NM_006781 C6orf10 Silent exm-rs2076540 6 32317276 [T/C] NM_006781 C6orf10 Silent exm2243889 6 32317519 [A/G] NM_006781 C6orf10 EXON Missense_I116T exm535320 6 32317568 [A/G] NM_006781 C6orf10 EXON Missense_L100F exm-rs12662503 6 32318644 [T/C] NM_006781 C6orf10 Silent exm-rs3132963 6 32320153 [A/G] NM_006781 C6orf10 Silent exm-rs2022544 6 32321004 [T/C] NM_006781 C6orf10 Silent exm-rs2395148 6 32321554 [T/G] NM_006781 C6orf10 Silent exm-rs1265759 6 32322393 [T/C] NM_006781 C6orf10 Silent exm-rs3129907 6 32323745 [A/G] NM_006781 C6orf10 Silent exm-rs2206618 6 32324544 [A/G] NM_006781 C6orf10 Silent exm-rs2395150 6 32326045 [A/G] NM_006781 C6orf10 Silent exm-rs3129923 6 32333195 [A/G] NM_006781 C6orf10 Silent exm535329 6 32333955 [T/C] NM_006781 C6orf10 EXON Missense_Y69C exm-rs7770048 6 32334754 [T/C] NM_006781 C6orf10 Silent exm-rs2143462 6 32335204 [A/G] NM_006781 C6orf10 Silent exm-rs3129931 6 32335516 [T/C] NM_006781 C6orf10 Silent exm-rs2073046 6 32336074 [T/C] NM_006781 C6orf10 Silent exm-rs3129934 6 32336187 [T/C] NM_006781 C6orf10 Silent exm-rs3129938 6 32336495 [T/A] NM_006781 C6orf10 Silent exm535338 6 32336586 [A/G] NM_006781 C6orf10 EXON Missense_Y36H exm-rs2273017 6 32337630 [A/G] NM_006781 C6orf10 Silent exm535341 6 32337686 [A/G] NM_006781 C6orf10 EXON Missense_C30R exm-rs3129943 6 32338695 [A/G] NM_006781 C6orf10 Silent exm-rs2073044 6 32338986 [T/C] NM_006781 C6orf10 Silent exm-rs2050190 6 32339076 [A/G] NM_006781 C6orf10 Silent exm-rs2076535 6 32339511 [T/C] NM_006781 C6orf10 EXON Silent exm-rs2050189 6 32339647 [T/C] NM_006781 C6orf10 EXON Silent exm-rs6913309 6 32339840 [A/T] exm-rs3129945 6 32342537 [A/G] exm-rs7758128 6 32345283 [A/C] exm-rs2395153 6 32345595 [G/C] exm-rs3117103 6 32349557 [T/A] exm-rs6930777 6 32351566 [T/C] exm-rs4424066 6 32354428 [A/G] exm-rs1555115 6 32354520 [C/G] exm-rs9268474 6 32357165 [T/C] exm-rs12529049 6 32357715 [T/C] exm-rs3817973 6 32361111 [T/C] NR_044996 HCG23 Silent exm-rs3817969 6 32361388 [T/C] NR_044996 HCG23 EXON Silent exm-rs3129953 6 32361821 [T/C] exm535361 6 32362521 [A/C] NM_019602 BTNL2 EXON Missense_G454C exm535362 6 32362532 [A/G] NM_019602 BTNL2 EXON Missense_F450S exm535372 6 32362679 [A/G] NM_019602 BTNL2 EXON Missense_T401M exm535375 6 32362703 [T/G] NM_019602 BTNL2 EXON Missense_P393Q exm535376 6 32362741 [T/C] NM_019602 BTNL2 EXON Missense_M380I exm535379 6 32362745 [A/G] NM_019602 BTNL2 EXON Missense_P379L exm535381 6 32362769 [T/C] NM_019602 BTNL2 EXON Missense_G371E exm-rs1980493 6 32363215 [T/C] NM_019602 BTNL2 Silent exm535385 6 32363816 [T/C] NM_019602 BTNL2 EXON Missense_S360G exm535386 6 32363840 [T/C] NM_019602 BTNL2 EXON Missense_A352T exm535389 6 32363888 [T/C] NM_019602 BTNL2 EXON Missense_D336N exm535395 6 32364011 [T/C] NM_019602 BTNL2 EXON Missense_M295V exm535396 6 32364044 [A/G] NM_019602 BTNL2 EXON Nonsense_R284X exm535397 6 32364046 [A/T] NM_019602 BTNL2 EXON Missense_D283V exm535399 6 32364052 [T/C] NM_019602 BTNL2 EXON Missense_R281K exm535401 6 32364076 [A/G] NM_019602 BTNL2 EXON Missense_A273V exm535402 6 32364092 [A/G] NM_019602 BTNL2 EXON Missense_Y268H exm535404 6 32364137 [C/G] NM_019602 BTNL2 EXON Missense_Q253E exm535405 6 32364148 [T/A] NM_019602 BTNL2 EXON Missense_N249I exm-rs2076528 6 32364194 [A/C] NM_019602 BTNL2 Silent exm-rs3129954 6 32365580 [A/G] NM_019602 BTNL2 Silent exm-rs4248166 6 32366421 [T/C] NM_019602 BTNL2 Silent exm-rs2294883 6 32367451 [A/T] NM_019602 BTNL2 Silent exm-rs3817964 6 32367997 [T/A] NM_019602 BTNL2 Silent exm535408 6 32369562 [C/G] NM_019602 BTNL2 EXON Missense_A244P exm-IND6-32478704 6 32370727 [D/I] NM_019602 BTNL2 EXON exm535424 6 32370816 [A/G] NM_019602 BTNL2 EXON Missense_A202V exm535433 6 32370879 [T/C] NM_019602 BTNL2 EXON Missense_R181Q exm535437 6 32370927 [A/G] NM_019602 BTNL2 EXON Missense_T165I exm-IND6-32478947 6 32370970 [D/I] NM_019602 BTNL2 EXON exm535445 6 32370987 [A/C] NM_019602 BTNL2 EXON Missense_G145V exm535447 6 32370993 [T/C] NM_019602 BTNL2 EXON Missense_G143D exm-rs2076522 6 32371179 [G/C] NM_019602 BTNL2 Silent exm-rs3793127 6 32371915 [T/C] NM_019602 BTNL2 Silent exm535453 6 32372791 [T/C] NM_019602 BTNL2 EXON Missense_D118N exm535455 6 32372817 [A/G] NM_019602 BTNL2 EXON Missense_L109P exm535458 6 32372863 [A/T] NM_019602 BTNL2 EXON Missense_W94R exm535465 6 32372995 [A/G] NM_019602 BTNL2 EXON Missense_C50R exm535469 6 32373064 [T/C] NM_019602 BTNL2 Silent exm-rs10947262 6 32373312 [T/C] NM_019602 BTNL2 Silent exm-rs3806155 6 32373378 [T/A] NM_019602 BTNL2 Silent exm-rs3806156 6 32373698 [T/G] NM_019602 BTNL2 Silent exm-rs3806157 6 32373801 [T/G] NM_019602 BTNL2 Silent exm-rs3763308 6 32374640 [A/G] NM_019602 BTNL2 Silent exm-rs3763313 6 32376471 [A/C] exm-rs3763315 6 32376654 [T/G] exm-rs3763316 6 32376746 [T/C] exm-rs9268507 6 32377539 [A/G] exm-rs3129961 6 32378940 [T/C] exm-rs3135374 6 32385605 [A/C] exm-rs2395163 6 32387809 [T/C] exm-rs2395165 6 32388144 [T/C] exm-rs3135365 6 32389255 [A/C] exm-rs3135363 6 32389648 [A/G] exm-rs3135356 6 32391516 [A/G] exm-rs3135353 6 32392877 [T/C] exm-rs2187818 6 32395568 [T/G] exm-rs3129853 6 32398648 [A/G] exm-rs9501626 6 32400344 [A/C] exm-rs3129858 6 32400520 [A/G] exm-rs3135338 6 32401217 [T/C] exm-rs3135335 6 32401845 [G/C] exm-rs2395175 6 32405026 [A/G] exm-rs2395178 6 32405362 [C/G] exm-rs3129871 6 32406342 [A/C] exm-rs3129872 6 32407153 [T/A] exm535480 6 32407740 [A/G] NM_019111 HLA-DRA EXON Missense_G5R exm535483 6 32407785 [A/G] NM_019111 HLA-DRA EXON Missense_A20T exm-rs9268645 6 32408527 [C/G] NM_019111 HLA-DRA Silent exm-rs3129878 6 32408735 [A/C] NM_019111 HLA-DRA Silent exm-rs3129882 6 32409530 [A/G] NM_019111 HLA-DRA Silent exm2121987 6 32410443 [A/C] NM_019111 HLA-DRA EXON Missense_R101S exm535494 6 32411076 [A/G] NM_019111 HLA-DRA EXON Missense_R148Q exm-rs2239804 6 32411523 [T/C] NM_019111 HLA-DRA Silent exm535503 6 32411646 [T/G] NM_019111 HLA-DRA EXON Missense_L242V exm-rs3129888 6 32411726 [A/G] NM_019111 HLA-DRA Silent exm-rs2239802 6 32411846 [C/G] NM_019111 HLA-DRA Silent exm-rs3177928 6 32412435 [A/G] NM_019111 HLA-DRA EXON Silent exm-rs7194 6 32412480 [A/G] NM_019111 HLA-DRA EXON Silent exm-rs3135388 6 32413051 [A/G] exm-rs2227139 6 32413459 [A/G] exm-rs3129891 6 32415080 [A/G] exm-rs13209234 6 32415975 [A/G] exm-rs6457590 6 32421798 [T/G] exm-rs6923504 6 32428186 [C/G] exm-rs6903608 6 32428285 [T/C] exm-rs9268853 6 32429643 [T/C] exm-rs4428528 6 32430362 [C/G] exm-rs9268877 6 32431147 [A/G] exm-rs9268923 6 32432835 [T/C] exm-rs2395185 6 32433167 [T/G] exm-rs2187823 6 32439508 [A/G] exm-rs5026743 6 32439964 [T/G] exm-rs6901541 6 32442261 [T/C] exm-rs5020946 6 32450089 [T/G] exm-rs6916742 6 32453191 [T/C] exm2263679 6 32487242 [A/G] NM_002125 HLA-DRB5 EXON Missense_T186I exm2243899 6 32487416 [A/C] NM_002125 HLA-DRB5 EXON Missense_V128G exm535799 6 32497962 [T/C] NM_002125 HLA-DRB5 EXON Missense_K14E exm535823 6 32546879 [A/G] NM_001243965,NM_002124 HLA-DRB1,HLA-DRB1 EXON Missense_F255L,Missense_F264L exm535831 6 32548032 [T/G] NM_001243965,NM_002124 HLA-DRB1,HLA-DRB1 EXON Missense_Q251P,Missense_Q260P exm535981 6 32552095 [T/C] NM_001243965,NM_002124 HLA-DRB1,HLA-DRB1 EXON Synonymous_A45A,Missense_R54Q exm535982 6 32552096 [A/G] NM_001243965,NM_002124 HLA-DRB1,HLA-DRB1 EXON Missense_A45V,Missense_R54W exm2122129 6 32552121 [A/T] NM_001243965,NM_002124 HLA-DRB1,HLA-DRB1 EXON Missense_F37I,Missense_H45Q exm-rs9270623 6 32565331 [A/C] exm-rs615672 6 32574171 [C/G] exm-rs660895 6 32577380 [A/G] exm-rs9271366 6 32586854 [A/G] exm-rs28421666 6 32592737 [A/G] exm-rs9272105 6 32599999 [A/G] exm-rs9272219 6 32602269 [T/G] exm536044 6 32605284 [A/G] NM_002122 HLA-DQA1 EXON Missense_V17M exm536049 6 32605309 [A/G] NM_002122 HLA-DQA1 EXON Missense_D25G exm-rs2187668 6 32605884 [T/C] NM_002122 HLA-DQA1 Silent exm536067 6 32609105 [A/G] NM_002122 HLA-DQA1 EXON Missense_C34Y exm536069 6 32609126 [T/C] NM_002122 HLA-DQA1 EXON Missense_F41S exm536073 6 32609150 [C/G] NM_002122 HLA-DQA1 EXON Missense_T49S exm536110 6 32609323 [A/G] NM_002122 HLA-DQA1 EXON Missense_A107T exm536131 6 32609806 [T/C] NM_002122 HLA-DQA1 EXON Missense_T130I exm536186 6 32610423 [A/G] NM_002122 HLA-DQA1 EXON Missense_E217G exm-rs9273349 6 32625869 [T/C] exm-rs7744001 6 32626086 [A/G] exm-rs6928482 6 32626249 [T/C] exm-rs6906021 6 32626311 [T/C] exm536255 6 32629137 [T/G] NM_002123,NM_001243961 HLA-DQB1,HLA-DQB1 EXON Missense_Q253H,Missense_Q253H exm536297 6 32629755 [A/G] NM_002123,NM_001243961 HLA-DQB1,HLA-DQB1 EXON Missense_T217I,Missense_T217I exm536299 6 32629764 [T/C] NM_002123,NM_001243961 HLA-DQB1,HLA-DQB1 EXON Missense_S214N,Missense_S214N exm536402 6 32632724 [T/C] NM_002123,NM_001243961 HLA-DQB1,HLA-DQB1 EXON Missense_G77E,Missense_G77E exm2275871 6 32632749 [A/C] NM_002123,NM_001243961 HLA-DQB1,HLA-DQB1 EXON Missense_Y69D,Missense_Y69D exm536420 6 32632790 [A/C] NM_002123,NM_001243961 HLA-DQB1,HLA-DQB1 EXON Missense_R55L,Missense_R55L exm536423 6 32632820 [C/G] NM_002123,NM_001243961 HLA-DQB1,HLA-DQB1 EXON Missense_G45A,Missense_G45A exm-rs9274407 6 32632832 [T/A] NM_002123,NM_001243961 HLA-DQB1,HLA-DQB1 EXON Missense_F41Y,Missense_F41Y exm536425 6 32632833 [A/G] NM_002123,NM_001243961 HLA-DQB1,HLA-DQB1 EXON Missense_F41L,Missense_F41L exm536439 6 32634282 [A/G] NM_002123,NM_001243961 HLA-DQB1,HLA-DQB1 EXON Missense_S35P,Missense_S35P exm536445 6 32634306 [T/A] NM_002123,NM_001243961 HLA-DQB1,HLA-DQB1 EXON Missense_S27T,Missense_S27T exm536446 6 32634313 [G/C] NM_002123,NM_001243961 HLA-DQB1,HLA-DQB1 EXON Missense_M24I,Missense_M24I exm536451 6 32634339 [G/C] NM_002123,NM_001243961 HLA-DQB1,HLA-DQB1 EXON Missense_A16P,Missense_A16P exm536453 6 32634341 [A/G] NM_002123,NM_001243961 HLA-DQB1,HLA-DQB1 EXON Missense_V15A,Missense_V15A exm536456 6 32634369 [A/C] NM_002123,NM_001243961 HLA-DQB1,HLA-DQB1 EXON Missense_A6S,Missense_A6S exm-rs3828796 6 32635974 [A/G] exm-rs3134996 6 32636866 [A/T] exm-rs9275141 6 32651117 [T/G] exm-rs4947342 6 32653070 [A/G] exm-rs7774434 6 32657578 [T/C] exm-rs9469220 6 32658310 [A/G] exm-rs6457617 6 32663851 [T/C] exm-rs6457620 6 32663999 [C/G] exm-rs2647012 6 32664458 [T/C] exm-rs10484561 6 32665420 [T/G] exm-rs1794264 6 32665773 [T/C] exm-rs2856726 6 32666721 [T/A] exm-rs3135006 6 32667119 [T/C] exm-rs1612904 6 32669018 [A/C] exm-rs9275390 6 32669156 [T/C] exm-rs2647050 6 32669767 [T/C] exm-rs2856718 6 32670255 [T/C] exm-rs2856717 6 32670308 [A/G] exm-rs13192471 6 32671103 [T/C] exm-rs9275495 6 32673574 [A/T] exm-rs9275524 6 32675109 [T/C] exm-rs6932517 6 32678182 [C/G] exm-rs9275572 6 32678999 [A/G] exm-rs3135461 6 32680122 [A/G] exm-rs7764856 6 32680640 [T/A] exm-rs7765379 6 32680928 [T/G] exm-rs2647087 6 32681049 [A/C] exm-rs7454108 6 32681483 [T/C] exm-rs9275596 6 32681631 [T/C] exm-rs3998159 6 32682019 [A/C] exm-rs3873444 6 32682724 [T/C] exm-rs3892710 6 32682862 [T/C] exm-rs5024431 6 32684344 [A/G] exm-rs3129736 6 32685953 [T/C] exm-rs3104401 6 32687358 [A/G] exm-rs9461799 6 32689529 [T/C] exm-rs763026 6 32691745 [T/C] exm-rs5029394 6 32695082 [A/G] exm-rs2859112 6 32698013 [T/C] exm-rs2859100 6 32699479 [C/G] exm-rs2858884 6 32700083 [A/C] exm-rs2858881 6 32703845 [T/C] exm-rs2858880 6 32704884 [A/T] exm-rs7773149 6 32706042 [A/G] exm-rs7773955 6 32706719 [T/C] exm-rs10947338 6 32708598 [A/T] exm-rs5018343 6 32710119 [A/T] NM_020056 HLA-DQA2 Silent exm-rs2213568 6 32711576 [A/C] NM_020056 HLA-DQA2 Silent exm-rs2213567 6 32711655 [G/C] NM_020056 HLA-DQA2 Silent exm-rs9276431 6 32712247 [T/C] NM_020056 HLA-DQA2 Silent exm536489 6 32712977 [T/C] NM_020056 HLA-DQA2 EXON Missense_H42Y exm536505 6 32713104 [T/G] NM_020056 HLA-DQA2 EXON Missense_S84I exm536506 6 32713113 [G/C] NM_020056 HLA-DQA2 EXON Missense_R87T exm536509 6 32713125 [T/G] NM_020056 HLA-DQA2 EXON Missense_V91G exm536512 6 32713128 [T/G] NM_020056 HLA-DQA2 EXON Missense_G92V exm536519 6 32713159 [T/G] NM_020056 HLA-DQA2 EXON Missense_Q102H exm536523 6 32713181 [A/G] NM_020056 HLA-DQA2 EXON Missense_N110D exm-rs2239800 6 32713267 [A/G] NM_020056 HLA-DQA2 Silent exm536534 6 32713625 [T/C] NM_020056 HLA-DQA2 EXON Missense_T130I exm536538 6 32713693 [T/G] NM_020056 HLA-DQA2 EXON Missense_S153A exm536563 6 32714067 [A/G] NM_020056 HLA-DQA2 EXON Missense_A222T exm536570 6 32714120 [C/G] NM_020056 HLA-DQA2 EXON Missense_I239M exm536572 6 32714134 [A/G] NM_020056 HLA-DQA2 EXON Missense_R244H exm536573 6 32714143 [A/G] NM_020056 HLA-DQA2 EXON Missense_G247D exm-rs2071799 6 32714175 [T/C] NM_020056 HLA-DQA2 EXON Silent exm-rs2395253 6 32715160 [A/G] exm-rs9276529 6 32720971 [T/C] exm-rs6918223 6 32722532 [A/C] exm-rs3213485 6 32724719 [T/C] NM_001198858 HLA-DQB2 Silent exm-rs2301271 6 32725193 [A/G] NM_001198858 HLA-DQB2 Silent exm2243918 6 32726693 [A/G] NM_001198858 HLA-DQB2 EXON Missense_R194C exm536598 6 32726753 [A/G] NM_001198858 HLA-DQB2 EXON Missense_L174F exm536602 6 32726774 [T/C] NM_001198858 HLA-DQB2 EXON Missense_A167T exm-rs6415132 6 32728182 [A/G] NM_001198858 HLA-DQB2 Silent exm536611 6 32729613 [T/C] NM_001198858 HLA-DQB2 EXON Missense_E63G exm-rs7453920 6 32730012 [A/G] NM_001198858 HLA-DQB2 Silent exm-rs2051549 6 32730086 [A/G] NM_001198858 HLA-DQB2 Silent exm-rs2071550 6 32730940 [A/C] NM_001198858 HLA-DQB2 Silent exm-rs1573649 6 32731258 [A/G] NM_001198858 HLA-DQB2 EXON Silent exm-rs6902723 6 32731960 [A/G] exm-rs9276598 6 32733987 [A/G] exm-rs9276601 6 32734304 [A/G] exm-rs6457655 6 32735506 [T/G] exm-rs1585891 6 32736722 [T/C] exm-rs6457661 6 32737494 [T/C] exm-rs6936428 6 32739174 [T/A] exm-rs1383265 6 32739888 [T/C] exm-rs2621421 6 32740671 [G/C] exm-rs1480382 6 32740895 [T/C] exm-rs2621416 6 32741868 [T/C] exm-rs2857197 6 32746984 [T/C] exm-rs719654 6 32752139 [A/G] exm-rs2857178 6 32752788 [A/G] exm-rs2857174 6 32754768 [T/C] exm-rs9276711 6 32757297 [T/C] exm-rs7758736 6 32758394 [A/G] exm-rs3948793 6 32759448 [A/G] exm-rs2621377 6 32763110 [T/C] exm-rs2857150 6 32763821 [A/G] exm-rs7381376 6 32767673 [C/G] exm-rs2621367 6 32768721 [A/G] exm-rs2621366 6 32768980 [A/C] exm-rs6457680 6 32770688 [A/T] exm-rs7748681 6 32773858 [A/C] exm-rs2857130 6 32776414 [T/A] exm-rs2621338 6 32776583 [A/G] exm-rs2857114 6 32779996 [A/G] exm-rs11244 6 32780724 [A/G] NM_002120 HLA-DOB EXON Silent exm536631 6 32781500 [T/C] NM_002120 HLA-DOB EXON Missense_G252R exm-rs2856997 6 32781776 [A/C] NM_002120 HLA-DOB Silent exm536639 6 32782112 [T/C] NM_002120 HLA-DOB EXON Missense_V210I exm536648 6 32782355 [A/G] NM_002120 HLA-DOB EXON Missense_P129S exm-rs2071475 6 32782387 [A/G] NM_002120 HLA-DOB Silent exm-rs2071474 6 32782582 [T/C] NM_002120 HLA-DOB Silent exm536650 6 32782826 [T/C] NM_002120 HLA-DOB EXON Missense_R119K exm536654 6 32782874 [A/C] NM_002120 HLA-DOB EXON Missense_G103V exm-rs2239697 6 32782897 [T/C] NM_002120 HLA-DOB EXON Synonymous_E95E exm536660 6 32782926 [T/G] NM_002120 HLA-DOB EXON Missense_Q86K exm-rs7383287 6 32783086 [A/G] NM_002120 HLA-DOB EXON Synonymous_D32D exm2266177 6 32783896 [A/G] NM_002120 HLA-DOB Silent exm536671 6 32784676 [T/C] NM_002120 HLA-DOB EXON Missense_R18Q exm-rs2857107 6 32785515 [T/C] exm-rs2857106 6 32787570 [T/C] exm-rs2621323 6 32788707 [A/G] exm-rs2621321 6 32789480 [A/G] exm-rs2857105 6 32790059 [T/C] NM_018833 TAP2 EXON Silent exm536676 6 32790089 [A/G] NM_018833 TAP2 EXON Missense_L647F exm-rs2857103 6 32791299 [A/C] NM_018833 TAP2 Silent exm-rs1894411 6 32792973 [T/C] NM_018833 TAP2 Silent exm-rs6905503 6 32794119 [T/G] NM_018833,NM_000544 TAP2,TAP2 EXON Silent,Silent exm-rs2857101 6 32794676 [T/C] NM_018833,NM_000544 TAP2,TAP2 EXON Silent,Silent exm-rs10484565 6 32795032 [A/G] NM_018833,NM_000544 TAP2,TAP2 EXON Silent,Silent exm-rs241455 6 32796019 [A/C] NM_018833,NM_000544 TAP2,TAP2 EXON Silent,Silent exm-rs241449 6 32796653 [A/C] NM_018833,NM_000544 TAP2,TAP2 EXON Silent,Synonymous_V697V exm536684 6 32796685 [A/G] NM_018833,NM_000544 TAP2,TAP2 EXON Silent,Missense_X687Q exm536687 6 32796751 [T/C] NM_018833,NM_000544 TAP2,TAP2 EXON Silent,Missense_T665A exm536688 6 32796793 [A/G] NM_018833,NM_000544 TAP2,TAP2 EXON Silent,Missense_R651C exm2275285 6 32797177 [A/G] NM_018833,NM_000544 TAP2,TAP2 EXON Synonymous_A644A,Synonymous_A644A exm536698 6 32797283 [A/G] NM_018833,NM_000544 TAP2,TAP2 EXON Missense_A609V,Missense_A609V exm-rs241439 6 32797537 [T/G] NM_018833,NM_000544 TAP2,TAP2 Silent,Silent exm-rs241438 6 32797620 [T/C] NM_018833,NM_000544 TAP2,TAP2 Silent,Silent exm-rs241437 6 32797684 [A/G] NM_018833,NM_000544 TAP2,TAP2 Silent,Silent exm536708 6 32797726 [T/C] NM_018833,NM_000544 TAP2,TAP2 EXON Missense_M592I,Missense_M592I exm536713 6 32797769 [A/G] NM_018833,NM_000544 TAP2,TAP2 EXON Missense_A578V,Missense_A578V exm536714 6 32797773 [T/C] NM_018833,NM_000544 TAP2,TAP2 EXON Missense_M577V,Missense_M577V exm536715 6 32797809 [T/C] NM_018833,NM_000544 TAP2,TAP2 EXON Missense_A565T,Missense_A565T exm536716 6 32797847 [T/C] NM_018833,NM_000544 TAP2,TAP2 EXON Missense_E552G,Missense_E552G exm536720 6 32798091 [T/C] NM_018833,NM_000544 TAP2,TAP2 EXON Missense_D530N,Missense_D530N exm536735 6 32798457 [T/C] NM_018833,NM_000544 TAP2,TAP2 EXON Missense_V467I,Missense_V467I exm536738 6 32798483 [A/G] NM_018833,NM_000544 TAP2,TAP2 EXON Missense_T458M,Missense_T458M exm-rs241433 6 32798795 [A/C] NM_018833,NM_000544 TAP2,TAP2 Silent,Silent exm536749 6 32800412 [T/C] NM_018833,NM_000544 TAP2,TAP2 EXON Missense_V379I,Missense_V379I exm536750 6 32800427 [T/C] NM_018833,NM_000544 TAP2,TAP2 EXON Missense_A374T,Missense_A374T exm536756 6 32800564 [G/C] NM_018833,NM_000544 TAP2,TAP2 EXON Missense_A328G,Missense_A328G exm536757 6 32800577 [T/C] NM_018833,NM_000544 TAP2,TAP2 EXON Missense_A324T,Missense_A324T exm536759 6 32802938 [T/C] NM_018833,NM_000544 TAP2,TAP2 EXON Missense_R313H,Missense_R313H exm536760 6 32802939 [A/G] NM_018833,NM_000544 TAP2,TAP2 EXON Missense_R313C,Missense_R313C exm536765 6 32803106 [A/G] NM_018833,NM_000544 TAP2,TAP2 EXON Missense_T257I,Missense_T257I exm536766 6 32803109 [T/C] NM_018833,NM_000544 TAP2,TAP2 EXON Missense_D256G,Missense_D256G exm-rs4148871 6 32803316 [A/G] NM_018833,NM_000544 TAP2,TAP2 Silent,Silent exm-rs241429 6 32803840 [A/G] NM_018833,NM_000544 TAP2,TAP2 Silent,Silent exm-rs241428 6 32804070 [T/G] NM_018833,NM_000544 TAP2,TAP2 Silent,Silent exm-rs3819721 6 32804798 [A/G] NM_018833,NM_000544 TAP2,TAP2 Silent,Silent exm-rs241424 6 32804934 [A/G] NM_018833,NM_000544 TAP2,TAP2 Silent,Silent exm-rs2239701 6 32805049 [T/C] NM_018833,NM_000544 TAP2,TAP2 Silent,Silent exm-rs2071465 6 32805470 [G/C] NM_018833,NM_000544 TAP2,TAP2 Silent,Silent exm536790 6 32805568 [T/G] NM_018833,NM_000544 TAP2,TAP2 EXON Missense_D148A,Missense_D148A exm2243921 6 32805636 [G/C] NM_018833,NM_000544 TAP2,TAP2 EXON Missense_Q125H,Missense_Q125H exm536800 6 32805889 [T/C] NM_018833,NM_000544 TAP2,TAP2 EXON Missense_E41G,Missense_E41G exm536806 6 32805967 [A/G] NM_018833,NM_000544 TAP2,TAP2 EXON Missense_V15A,Missense_V15A exm536807 6 32806007 [A/G] NM_018833,NM_000544 TAP2,TAP2 EXON Missense_R2W,Missense_R2W exm-rs2071544 6 32806121 [T/C] NM_018833,NM_000544 TAP2,TAP2 Silent,Silent exm-rs2071552 6 32806461 [A/G] NM_018833,NM_000544 TAP2,TAP2 EXON Silent,Silent exm-rs4713598 6 32806786 [T/G] exm-rs3763365 6 32807453 [A/G] exm-rs3763349 6 32808232 [A/G] exm536814 6 32809349 [T/C] NM_148919,NM_004159 PSMB8,PSMB8 EXON Missense_Y234C,Missense_Y230C exm536817 6 32809417 [T/C] NM_148919,NM_004159 PSMB8,PSMB8 EXON Missense_M211I,Missense_M207I exm-rs9357155 6 32809848 [A/G] NM_148919,NM_004159 PSMB8,PSMB8 Silent,Silent exm536827 6 32810015 [A/G] NM_148919,NM_004159 PSMB8,PSMB8 EXON Missense_R145C,Missense_R141C exm-rs9276810 6 32810443 [A/G] NM_148919,NM_004159 PSMB8,PSMB8 Silent,Silent exm536838 6 32810794 [T/A] NM_148919,NM_004159 PSMB8,PSMB8 EXON Missense_T74S,Missense_T70S exm536844 6 32811629 [T/G] NM_148919,NM_004159 PSMB8,PSMB8 EXON Missense_Q49K,Silent exm536856 6 32812056 [T/C] NM_004159,NR_037174,NR_037173,NR_037176,NR_037175 PSMB8,LOC100507463,LOC100507463,LOC100507463,LOC100507463 EXON Synonymous_E45E,Silent,Silent,Silent,Silent exm536860 6 32812174 [T/G] NM_004159,NR_037174,NR_037173,NR_037176,NR_037175 PSMB8,LOC100507463,LOC100507463,LOC100507463,LOC100507463 EXON Missense_P6H,Silent,Silent,Silent,Silent exm-rs2071541 6 32812858 [A/G] NR_037174,NR_037173,NR_037176,NR_037175 LOC100507463,LOC100507463,LOC100507463,LOC100507463 Silent,Silent,Silent,Silent exm-rs3198005 6 32813214 [A/G] NR_037174,NR_037173,NR_037176,NR_037175,NM_000593 LOC100507463,LOC100507463,LOC100507463,LOC100507463,TAP1 EXON Silent,Silent,Silent,Silent,Silent exm-rs1057373 6 32813279 [A/C] NR_037174,NR_037173,NR_037176,NR_037175,NM_000593 LOC100507463,LOC100507463,LOC100507463,LOC100507463,TAP1 EXON Silent,Silent,Silent,Silent,Silent exm536865 6 32813421 [T/G] NR_037174,NR_037173,NR_037176,NR_037175,NM_000593 LOC100507463,LOC100507463,LOC100507463,LOC100507463,TAP1 EXON Silent,Silent,Silent,Silent,Missense_Q788K exm-rs4711312 6 32814659 [A/G] NM_000593 TAP1 Silent exm536874 6 32814909 [T/C] NM_000593 TAP1 EXON Missense_R719Q exm536876 6 32814942 [T/C] NM_000593 TAP1 EXON Missense_R708Q exm536878 6 32814975 [T/C] NM_000593 TAP1 EXON Missense_D697G exm536884 6 32815410 [C/G] NM_000593 TAP1 EXON Missense_L655V exm536889 6 32815842 [T/C] NM_000593 TAP1 EXON Missense_E592K exm536898 6 32816443 [T/C] NM_000593 TAP1 EXON Missense_V578I exm536899 6 32816448 [A/G] NM_000593 TAP1 EXON Missense_P576L exm-rs2071482 6 32816700 [A/C] NM_000593 TAP1 Silent exm536912 6 32816772 [A/C] NM_000593 TAP1 EXON Missense_V518L exm536916 6 32816889 [A/C] NM_000593 TAP1 EXON Missense_G479C exm-rs2395269 6 32817774 [T/G] NM_000593 TAP1 Silent exm536932 6 32818213 [A/G] NM_000593 TAP1 EXON Nonsense_R438X exm536935 6 32818230 [A/G] NM_000593 TAP1 EXON Missense_S432L exm536936 6 32818236 [A/G] NM_000593 TAP1 EXON Missense_A430V exm536937 6 32818242 [A/G] NM_000593 TAP1 EXON Missense_I428T exm-rs2071538 6 32818678 [A/G] NM_000593 TAP1 Silent exm536941 6 32818774 [T/C] NM_000593 TAP1 EXON Missense_I393V exm536946 6 32818914 [A/G] NM_000593 TAP1 EXON Missense_S346F exm-rs2071537 6 32818991 [A/C] NM_000593 TAP1 Silent exm-rs2284190 6 32819517 [T/C] NM_000593 TAP1 Silent exm-rs2071481 6 32819865 [T/C] NM_000593 TAP1 Silent exm536955 6 32819984 [T/C] NM_000593 TAP1 EXON Missense_Y309C exm536956 6 32819991 [T/C] NM_000593 TAP1 EXON Missense_G307R exm536957 6 32820000 [A/C] NM_000593 TAP1 EXON Missense_V304L exm536970 6 32820930 [T/C] NM_000593 TAP1 EXON Missense_V222M exm536975 6 32820977 [A/G] NM_000593 TAP1 EXON Missense_A206V exm536978 6 32821022 [A/G] NM_000593 TAP1 EXON Missense_L191P exm536980 6 32821086 [C/G] NM_000593 TAP1 EXON Missense_L170V exm536989 6 32821365 [C/G] NM_000593 TAP1 EXON Missense_G77R exm536997 6 32821556 [A/G] NM_000593 TAP1 EXON Missense_S13F exm-rs4713600 6 32822858 [T/G] NM_002800 PSMB9 Silent exm-rs991760 6 32823567 [A/G] NM_002800 PSMB9 Silent exm537002 6 32823948 [A/G] NM_002800 PSMB9 EXON Missense_V32I exm537012 6 32825089 [T/C] NM_002800 PSMB9 EXON Missense_R60C exm537013 6 32825090 [A/G] NM_002800 PSMB9 EXON Missense_R60H exm537014 6 32825101 [T/G] NM_002800 PSMB9 EXON Missense_A64S exm-rs2071476 6 32825379 [A/G] NM_002800 PSMB9 Silent exm537027 6 32826267 [T/C] NM_002800 PSMB9 EXON Missense_R173C exm537028 6 32826268 [A/G] NM_002800 PSMB9 EXON Missense_R173H exm-rs241417 6 32827916 [T/C] exm-rs7767288 6 32830013 [A/G] exm-rs2621434 6 32830687 [A/G] exm-rs6938130 6 32831247 [A/T] exm-rs3752430 6 32832667 [T/C] exm-rs1383266 6 32834732 [T/C] exm-rs12214934 6 32836500 [C/G] exm-rs1580345 6 32837696 [A/C] exm-rs6903433 6 32842975 [T/C] exm-rs2170185 6 32849639 [A/G] exm-rs2187689 6 32852647 [T/C] exm-rs10046257 6 32854697 [A/G] exm-rs2857218 6 32855340 [G/C] exm-rs2018501 6 32856208 [T/C] exm-rs1029295 6 32856482 [T/C] exm-rs11969522 6 32859825 [C/G] exm-rs9469300 6 32860752 [A/G] exm-rs241410 6 32861651 [C/G] exm-rs3749981 6 32862682 [T/C] NR_037178,NR_037177 LOC100294145,LOC100294145 EXON Silent,Silent exm-rs11961569 6 32864681 [T/G] NR_037178,NR_037177 LOC100294145,LOC100294145 Silent,Silent exm-rs241405 6 32865798 [A/G] NR_037178,NR_037177 LOC100294145,LOC100294145 Silent,Silent exm-rs241404 6 32865997 [T/C] NR_037178,NR_037177 LOC100294145,LOC100294145 Silent,Silent exm-rs241402 6 32869045 [T/C] NR_037178,NR_037177 LOC100294145,LOC100294145 EXON Silent,Silent exm-rs10080898 6 32869882 [A/C] NR_037178,NR_037177 LOC100294145,LOC100294145 EXON Silent,Silent exm-rs241399 6 32871558 [T/C] exm-rs1585894 6 32875323 [T/G] exm-rs241398 6 32875450 [T/C] exm-rs9501234 6 32876049 [A/G] exm-rs154989 6 32877173 [A/G] exm-rs154986 6 32879233 [T/G] exm-rs154984 6 32880419 [A/G] exm-rs194679 6 32891338 [T/C] exm-rs9296059 6 32893102 [A/C] exm-rs6904223 6 32894520 [T/G] exm-rs9296065 6 32896808 [T/C] exm-rs154978 6 32899296 [T/C] exm-rs154977 6 32900018 [G/C] exm-rs181997 6 32900718 [A/G] exm-rs3129299 6 32900787 [T/C] exm-rs1465651 6 32901351 [T/C] exm-rs241457 6 32901421 [T/G] exm-rs10751 6 32902583 [A/G] NM_002118 HLA-DMB EXON Silent exm-rs151719 6 32903900 [T/C] NM_002118 HLA-DMB Silent exm-rs2071556 6 32904601 [T/G] NM_002118 HLA-DMB Silent exm537058 6 32904981 [A/G] NM_002118 HLA-DMB EXON Missense_T197I exm537063 6 32905086 [T/G] NM_002118 HLA-DMB EXON Missense_A162E exm-rs194675 6 32905746 [A/T] NM_002118 HLA-DMB Silent exm-rs714289 6 32905811 [A/G] NM_002118 HLA-DMB Silent exm537073 6 32906461 [A/G] NM_002118 HLA-DMB EXON Missense_R113W exm537079 6 32906586 [T/C] NM_002118 HLA-DMB EXON Missense_S71N exm537080 6 32906601 [A/G] NM_002118 HLA-DMB EXON Missense_F66S exm537081 6 32906652 [A/T] NM_002118 HLA-DMB EXON Missense_D49V exm537082 6 32906716 [T/C] NM_002118 HLA-DMB EXON Missense_T28A exm-rs3101943 6 32908752 [A/G] NM_002118 HLA-DMB EXON Silent exm-rs3101944 6 32911127 [T/C] exm-rs2395296 6 32911814 [A/G] exm-rs10484567 6 32912552 [T/C] exm-rs1480380 6 32913246 [T/C] exm-rs6899309 6 32915823 [T/C] exm537097 6 32917165 [T/C] NM_006120 HLA-DMA EXON Missense_A222T exm537102 6 32917411 [T/C] NM_006120 HLA-DMA EXON Missense_R210H exm537105 6 32917498 [C/G] NM_006120 HLA-DMA EXON Missense_G181A exm537106 6 32917500 [A/G] NM_006120 HLA-DMA EXON Synonymous_D180D exm537108 6 32917544 [T/C] NM_006120 HLA-DMA EXON Missense_V166I exm-rs1050391 6 32917857 [A/G] NM_006120 HLA-DMA Silent exm537114 6 32918320 [T/C] NM_006120 HLA-DMA EXON Missense_D117N exm-rs3135029 6 32921774 [T/G] exm-rs209473 6 32922908 [A/C] exm-rs209474 6 32924584 [A/G] exm-rs580962 6 32925692 [T/C] exm-rs6906517 6 32926580 [T/C] exm-rs3129297 6 32927969 [A/C] exm-rs129653 6 32931536 [T/C] exm-rs9276934 6 32933222 [T/C] exm-rs1367727 6 32934409 [T/C] exm-rs206786 6 32935179 [A/C] exm-rs10484568 6 32935751 [A/G] exm-rs683208 6 32937901 [T/C] NM_005104 BRD2 Silent exm-rs1049278 6 32939785 [T/C] NM_005104,NM_001113182,NR_037625,NM_001199455 BRD2,BRD2,BRD2,BRD2 EXON Silent,Silent,Silent,Silent exm537141 6 32940694 [T/C] NM_005104,NM_001113182,NR_037625,NM_001199455 BRD2,BRD2,BRD2,BRD2 EXON Missense_P7S,Missense_P7S,Silent,Missense_P7S exm-rs3130597 6 32941191 [T/C] NM_005104,NM_001113182,NR_037625,NM_001199455,NM_001199456 BRD2,BRD2,BRD2,BRD2,BRD2 Silent,Silent,Silent,Silent,Silent exm2257765 6 32942264 [T/C] NM_005104,NM_001113182,NR_037625,NM_001199455,NM_001199456 BRD2,BRD2,BRD2,BRD2,BRD2 EXON Synonymous_L19L,Synonymous_L19L,Silent,Synonymous_L19L,Silent exm537148 6 32942277 [A/G] NM_005104,NM_001113182,NR_037625,NM_001199455,NM_001199456 BRD2,BRD2,BRD2,BRD2,BRD2 EXON Missense_G23D,Missense_G23D,Silent,Missense_G23D,Silent exm-rs516535 6 32942302 [A/G] NM_005104,NM_001113182,NR_037625,NM_001199455,NM_001199456 BRD2,BRD2,BRD2,BRD2,BRD2 EXON Synonymous_K31K,Synonymous_K31K,Silent,Synonymous_K31K,Silent exm537155 6 32942354 [T/G] NM_005104,NM_001113182,NR_037625,NM_001199455,NM_001199456 BRD2,BRD2,BRD2,BRD2,BRD2 EXON Missense_A49S,Missense_A49S,Silent,Missense_A49S,Missense_A2S exm537160 6 32942386 [A/C] NM_005104,NM_001113182,NR_037625,NM_001199455,NM_001199456 BRD2,BRD2,BRD2,BRD2,BRD2 EXON Synonymous_A59A,Synonymous_A59A,Silent,Synonymous_A59A,Synonymous_A12A exm2257766 6 32942386 [A/C] NM_005104,NM_001113182,NR_037625,NM_001199455,NM_001199456 BRD2,BRD2,BRD2,BRD2,BRD2 EXON Synonymous_A59A,Synonymous_A59A,Silent,Synonymous_A59A,Synonymous_A12A exm537167 6 32942458 [G/C] NM_005104,NM_001113182,NR_037625,NM_001199455,NM_001199456 BRD2,BRD2,BRD2,BRD2,BRD2 EXON Missense_H83Q,Missense_H83Q,Silent,Missense_H83Q,Missense_H36Q exm537171 6 32942523 [T/C] NM_005104,NM_001113182,NR_037625,NM_001199455,NM_001199456 BRD2,BRD2,BRD2,BRD2,BRD2 EXON Missense_A105V,Missense_A105V,Silent,Missense_A105V,Missense_A58V exm-rs485502 6 32943345 [T/C] NM_005104,NM_001113182,NR_037625,NM_001199455,NM_001199456 BRD2,BRD2,BRD2,BRD2,BRD2 Silent,Silent,Silent,Silent,Silent exm537186 6 32943853 [T/C] NM_005104,NM_001113182,NR_037625,NM_001199455,NM_001199456 BRD2,BRD2,BRD2,BRD2,BRD2 EXON Missense_F173L,Missense_F173L,Silent,Missense_F173L,Missense_F126L exm537196 6 32944128 [T/C] NM_005104,NM_001113182,NR_037625,NM_001199455,NM_001199456 BRD2,BRD2,BRD2,BRD2,BRD2 EXON Missense_L238F,Missense_L238F,Silent,Missense_L238F,Missense_L191F exm-rs11908 6 32944746 [A/G] NM_005104,NM_001113182,NR_037625,NM_001199455,NM_001199456 BRD2,BRD2,BRD2,BRD2,BRD2 Silent,Silent,Silent,Silent,Silent exm537225 6 32945270 [A/G] NM_005104,NM_001113182,NR_037625,NM_001199455,NM_001199456 BRD2,BRD2,BRD2,BRD2,BRD2 EXON Missense_V418I,Missense_V418I,Silent,Missense_V418I,Missense_V371I exm537226 6 32945309 [G/C] NM_005104,NM_001113182,NR_037625,NM_001199455,NM_001199456 BRD2,BRD2,BRD2,BRD2,BRD2 EXON Missense_P431A,Missense_P431A,Silent,Missense_P431A,Missense_P384A exm-rs3097644 6 32945530 [C/G] NM_005104,NM_001113182,NR_037625,NM_001199455,NM_001199456 BRD2,BRD2,BRD2,BRD2,BRD2 Silent,Silent,Silent,Silent,Silent exm537234 6 32945625 [T/C] NM_005104,NM_001113182,NR_037625,NM_001199455,NM_001199456 BRD2,BRD2,BRD2,BRD2,BRD2 EXON Missense_A474V,Missense_A474V,Silent,Missense_A474V,Missense_A427V exm537239 6 32945701 [T/G] NM_005104,NM_001113182,NR_037625,NM_001199455,NM_001199456 BRD2,BRD2,BRD2,BRD2,BRD2 EXON Missense_E499D,Missense_E499D,Silent,Missense_E499D,Missense_E452D exm537240 6 32945704 [C/G] NM_005104,NM_001113182,NR_037625,NM_001199455,NM_001199456 BRD2,BRD2,BRD2,BRD2,BRD2 EXON Missense_E500D,Missense_E500D,Silent,Missense_E500D,Missense_E453D exm2122356 6 32945975 [A/G] NM_005104,NM_001113182,NR_037625,NM_001199455,NM_001199456 BRD2,BRD2,BRD2,BRD2,BRD2 EXON Missense_K551E,Missense_K551E,Silent,Missense_K551E,Missense_K504E exm537254 6 32946029 [A/G] NM_005104,NM_001113182,NR_037625,NM_001199455,NM_001199456 BRD2,BRD2,BRD2,BRD2,BRD2 EXON Missense_A569T,Missense_A569T,Silent,Missense_A569T,Missense_A522T exm537258 6 32946119 [C/G] NM_005104,NM_001113182,NR_037625,NM_001199455,NM_001199456 BRD2,BRD2,BRD2,BRD2,BRD2 EXON Missense_A599P,Missense_A599P,Silent,Missense_A599P,Missense_A552P exm-rs206781 6 32946133 [T/C] NM_005104,NM_001113182,NR_037625,NM_001199455,NM_001199456 BRD2,BRD2,BRD2,BRD2,BRD2 EXON Synonymous_S603S,Synonymous_S603S,Silent,Synonymous_S603S,Synonymous_S556S exm-rs2066744 6 32948333 [T/C] NM_005104,NM_001113182,NR_037625,NM_001199455,NM_001199456 BRD2,BRD2,BRD2,BRD2,BRD2 Silent,Silent,Silent,Silent,Silent exm537291 6 32948385 [A/G] NM_005104,NM_001113182,NR_037625,NM_001199455,NM_001199456 BRD2,BRD2,BRD2,BRD2,BRD2 EXON Missense_A766T,Missense_A766T,Silent,Missense_A801T,Missense_A719T exm-rs2071876 6 32948426 [T/C] NM_005104,NM_001113182,NR_037625,NM_001199455,NM_001199456 BRD2,BRD2,BRD2,BRD2,BRD2 EXON Synonymous_S779S,Synonymous_S779S,Silent,Synonymous_S814S,Synonymous_S732S exm2257767 6 32948462 [A/G] NM_005104,NM_001113182,NR_037625,NM_001199455,NM_001199456 BRD2,BRD2,BRD2,BRD2,BRD2 EXON Synonymous_S791S,Synonymous_S791S,Silent,Synonymous_S826S,Synonymous_S744S exm-rs1049526 6 32948804 [T/C] NM_005104,NM_001113182,NR_037625,NM_001199455,NM_001199456 BRD2,BRD2,BRD2,BRD2,BRD2 EXON Silent,Silent,Silent,Silent,Silent exm-rs6907291 6 32950934 [T/G] exm-rs3135034 6 32951662 [T/C] exm-rs206777 6 32952546 [A/G] exm-rs206776 6 32953711 [T/C] exm-rs188245 6 32955976 [A/G] exm-rs9276943 6 32956454 [T/C] exm-rs3129305 6 32959180 [C/G] exm-rs172276 6 32959770 [A/T] exm-rs206768 6 32961387 [A/G] exm-rs206767 6 32962420 [A/C] exm-rs206765 6 32964696 [A/T] exm-rs176248 6 32965942 [A/G] exm-rs12216336 6 32967741 [C/G] exm-rs172274 6 32969457 [T/C] exm-rs206762 6 32970450 [A/G] exm-rs3128931 6 32971708 [A/G] exm-rs3128935 6 32972404 [T/C] NM_002119 HLA-DOA EXON Silent exm-rs1044429 6 32972642 [T/C] NM_002119 HLA-DOA EXON Silent exm-rs3129304 6 32973743 [T/C] NM_002119 HLA-DOA EXON Silent exm-rs417812 6 32974081 [T/C] NM_002119 HLA-DOA EXON Silent exm-rs2581 6 32974401 [T/G] NM_002119 HLA-DOA EXON Silent exm-rs2582 6 32974551 [T/G] NM_002119 HLA-DOA EXON Silent exm537311 6 32974897 [T/C] NM_002119 HLA-DOA EXON Missense_V237I exm537315 6 32974914 [A/C] NM_002119 HLA-DOA EXON Missense_G231V exm537320 6 32974966 [T/C] NM_002119 HLA-DOA EXON Missense_D214N exm-rs399604 6 32975014 [T/C] NM_002119 HLA-DOA Silent exm537329 6 32975163 [T/C] NM_002119 HLA-DOA EXON Missense_V180M exm537340 6 32975286 [A/G] NM_002119 HLA-DOA EXON Missense_F139L exm537347 6 32975808 [A/G] NM_002119 HLA-DOA EXON Missense_R105C exm537353 6 32975885 [T/C] NM_002119 HLA-DOA EXON Missense_R79H exm-rs2284191 6 32976654 [A/G] NM_002119 HLA-DOA Silent exm-rs86567 6 32976759 [T/G] NM_002119 HLA-DOA Silent exm537365 6 32977298 [T/C] NM_002119 HLA-DOA EXON Missense_G6R exm-rs6911639 6 32978178 [T/C] exm-rs429916 6 32978587 [A/C] exm-rs3763341 6 32979020 [A/G] exm-rs4713603 6 32979609 [T/C] exm-rs4713604 6 32979770 [C/G] exm-rs6457699 6 32981647 [T/C] exm-rs423209 6 32983474 [A/G] exm-rs2116264 6 32984788 [A/G] exm-rs3130604 6 32985052 [A/G] exm-rs1367731 6 32985199 [T/C] exm-rs3130605 6 32985295 [T/C] exm-rs2395305 6 32985376 [A/T] exm-rs4713605 6 32985992 [A/T] exm-rs423639 6 32987774 [T/C] exm-rs6457702 6 32988049 [T/G] exm-rs9296068 6 32988695 [T/G] exm-rs3130609 6 32989521 [T/C] exm-rs3129301 6 32990060 [T/G] exm-rs6930052 6 32990481 [A/T] exm-rs3097648 6 32990970 [T/A] exm-rs9277015 6 32993266 [A/G] exm-rs443623 6 32996350 [T/A] exm-rs6920606 6 32997674 [T/C] exm-rs3130171 6 32998729 [T/C] exm-rs3135195 6 32999330 [T/G] exm-rs2858458 6 33003065 [T/C] exm-rs448733 6 33003687 [A/C] exm-rs763469 6 33004387 [A/G] exm-rs3097657 6 33006252 [T/C] exm-rs7774158 6 33007752 [A/C] exm-rs441576 6 33008546 [A/G] exm-rs405612 6 33014318 [T/C] exm-rs375912 6 33016728 [T/C] exm-rs3130176 6 33017457 [A/G] exm-rs7738815 6 33020387 [C/G] exm-rs3128955 6 33021192 [A/T] exm-rs3097669 6 33023792 [A/C] exm-rs2116263 6 33025493 [A/G] exm-rs4551215 6 33025700 [T/C] exm-rs422544 6 33026110 [A/C] exm-rs3077 6 33033022 [A/G] NM_001242525,NM_001242524,NM_033554 HLA-DPA1,HLA-DPA1,HLA-DPA1 EXON Silent,Silent,Silent exm-rs2301227 6 33033814 [A/G] NM_001242525,NM_001242524,NM_033554 HLA-DPA1,HLA-DPA1,HLA-DPA1 Silent,Silent,Silent exm-rs2301226 6 33034596 [A/G] NM_001242525,NM_001242524,NM_033554 HLA-DPA1,HLA-DPA1,HLA-DPA1 Silent,Silent,Silent exm-rs2301225 6 33035860 [A/G] NM_001242525,NM_001242524,NM_033554 HLA-DPA1,HLA-DPA1,HLA-DPA1 Silent,Silent,Silent exm-rs1126769 6 33036435 [T/G] NM_001242525,NM_001242524,NM_033554 HLA-DPA1,HLA-DPA1,HLA-DPA1 EXON Missense_T259P,Missense_T259P,Missense_T259P exm537381 6 33036446 [T/C] NM_001242525,NM_001242524,NM_033554 HLA-DPA1,HLA-DPA1,HLA-DPA1 EXON Missense_R255Q,Missense_R255Q,Missense_R255Q exm537383 6 33036505 [G/C] NM_001242525,NM_001242524,NM_033554 HLA-DPA1,HLA-DPA1,HLA-DPA1 EXON Synonymous_V235V,Synonymous_V235V,Synonymous_V235V exm537386 6 33036548 [A/G] NM_001242525,NM_001242524,NM_033554 HLA-DPA1,HLA-DPA1,HLA-DPA1 EXON Missense_T221M,Missense_T221M,Missense_T221M exm537387 6 33036549 [T/C] NM_001242525,NM_001242524,NM_033554 HLA-DPA1,HLA-DPA1,HLA-DPA1 EXON Missense_T221A,Missense_T221A,Missense_T221A exm537400 6 33036853 [A/C] NM_001242525,NM_001242524,NM_033554 HLA-DPA1,HLA-DPA1,HLA-DPA1 EXON Missense_F191V,Missense_F191V,Missense_F191V exm537414 6 33037060 [T/C] NM_001242525,NM_001242524,NM_033554 HLA-DPA1,HLA-DPA1,HLA-DPA1 EXON Missense_V122M,Missense_V122M,Missense_V122M exm537428 6 33037419 [A/G] NM_001242525,NM_001242524,NM_033554 HLA-DPA1,HLA-DPA1,HLA-DPA1 EXON Synonymous_N115N,Synonymous_N115N,Synonymous_N115N exm537433 6 33037453 [A/G] NM_001242525,NM_001242524,NM_033554 HLA-DPA1,HLA-DPA1,HLA-DPA1 EXON Missense_L104S,Missense_L104S,Missense_L104S exm537434 6 33037454 [A/C] NM_001242525,NM_001242524,NM_033554 HLA-DPA1,HLA-DPA1,HLA-DPA1 EXON Missense_L104V,Missense_L104V,Missense_L104V exm537435 6 33037456 [A/G] NM_001242525,NM_001242524,NM_033554 HLA-DPA1,HLA-DPA1,HLA-DPA1 EXON Missense_T103I,Missense_T103I,Missense_T103I exm537436 6 33037474 [A/G] NM_001242525,NM_001242524,NM_033554 HLA-DPA1,HLA-DPA1,HLA-DPA1 EXON Missense_L97S,Missense_L97S,Missense_L97S exm537446 6 33037611 [T/C] NM_001242525,NM_001242524,NM_033554 HLA-DPA1,HLA-DPA1,HLA-DPA1 EXON Synonymous_G51G,Synonymous_G51G,Synonymous_G51G exm537447 6 33037619 [T/G] NM_001242525,NM_001242524,NM_033554 HLA-DPA1,HLA-DPA1,HLA-DPA1 EXON Missense_P49T,Missense_P49T,Missense_P49T exm537448 6 33037626 [C/G] NM_001242525,NM_001242524,NM_033554 HLA-DPA1,HLA-DPA1,HLA-DPA1 EXON Synonymous_T46T,Synonymous_T46T,Synonymous_T46T exm537454 6 33037640 [T/C] NM_001242525,NM_001242524,NM_033554 HLA-DPA1,HLA-DPA1,HLA-DPA1 EXON Missense_A42T,Missense_A42T,Missense_A42T exm2262116 6 33037675 [A/C] NM_001242525,NM_001242524,NM_033554 HLA-DPA1,HLA-DPA1,HLA-DPA1 Silent,Silent,Silent exm-rs1431399 6 33041034 [A/G] NM_001242525,NM_001242524,NM_033554 HLA-DPA1,HLA-DPA1,HLA-DPA1 Silent,Silent,Silent exm-rs987870 6 33042880 [A/G] NM_001242525,NM_001242524 HLA-DPA1,HLA-DPA1 Silent,Silent exm537472 6 33043865 [T/C] NM_001242525,NM_001242524,NM_002121 HLA-DPA1,HLA-DPA1,HLA-DPB1 EXON Silent,Silent,Missense_T16M exm-rs1431403 6 33047031 [T/C] NM_001242525,NM_001242524,NM_002121 HLA-DPA1,HLA-DPA1,HLA-DPB1 Silent,Silent,Silent exm-rs3135024 6 33047466 [T/C] NM_001242525,NM_001242524,NM_002121 HLA-DPA1,HLA-DPA1,HLA-DPB1 Silent,Silent,Silent exm-rs3097671 6 33047612 [C/G] NM_001242525,NM_001242524,NM_002121 HLA-DPA1,HLA-DPA1,HLA-DPB1 Silent,Silent,Silent exm537485 6 33048457 [G/C] NM_001242525,NM_001242524,NM_002121 HLA-DPA1,HLA-DPA1,HLA-DPB1 EXON Silent,Silent,Missense_L37V exm537490 6 33048467 [T/G] NM_001242525,NM_001242524,NM_002121 HLA-DPA1,HLA-DPA1,HLA-DPB1 EXON Silent,Silent,Missense_G40V exm537495 6 33048538 [T/C] NM_001242525,NM_001242524,NM_002121 HLA-DPA1,HLA-DPA1,HLA-DPB1 EXON Silent,Silent,Missense_F64L exm537513 6 33048628 [A/C] NM_002121 HLA-DPB1 EXON Missense_I94L exm537521 6 33048649 [T/G] NM_002121 HLA-DPB1 EXON Missense_V101L exm537522 6 33048661 [A/G] NM_002121 HLA-DPB1 EXON Missense_M105V exm537523 6 33048663 [A/G] NM_002121 HLA-DPB1 EXON Missense_M105I exm537524 6 33048686 [A/G] NM_002121 HLA-DPB1 EXON Missense_G113D exm537530 6 33048707 [A/G] NM_002121 HLA-DPB1 EXON Missense_R120H exm537542 6 33052736 [A/G] NM_002121 HLA-DPB1 EXON Missense_R125K exm537555 6 33052981 [A/C] NM_002121 HLA-DPB1 EXON Missense_L207M exm537562 6 33053576 [T/C] NM_002121 HLA-DPB1 EXON Missense_R223W exm537563 6 33053577 [A/G] NM_002121 HLA-DPB1 EXON Missense_R223Q exm537567 6 33053609 [A/G] NM_002121 HLA-DPB1 EXON Missense_V234M exm537568 6 33053640 [T/C] NM_002121 HLA-DPB1 EXON Missense_I244T exm-rs9277471 6 33053682 [A/G] NM_002121 HLA-DPB1 Silent exm-rs9277489 6 33053942 [T/C] NM_002121 HLA-DPB1 Silent exm-rs9277535 6 33054861 [A/G] NM_002121 HLA-DPB1 EXON Silent exm2270306 6 33055346 [T/G] NM_002121 HLA-DPB1 EXON Silent exm-rs9277554 6 33055538 [T/C] NM_002121 HLA-DPB1 EXON Silent exm-rs3117226 6 33057659 [A/G] exm-rs2068204 6 33058718 [A/G] exm-rs2179920 6 33058874 [T/C] exm-rs2281390 6 33059669 [T/G] exm-rs2281389 6 33059796 [A/G] exm-rs3128917 6 33059996 [T/G] exm-rs3117223 6 33060064 [A/G] exm-rs6928954 6 33060822 [T/C] exm-rs3130190 6 33061690 [T/C] exm-rs2395314 6 33062673 [T/G] exm-rs2144014 6 33065813 [A/G] exm-rs3128921 6 33070749 [A/C] exm-rs2064478 6 33072266 [T/C] exm-rs4412248 6 33072415 [C/G] exm-rs2064476 6 33073322 [A/G] exm-rs2064474 6 33073463 [A/G] exm-rs3128927 6 33074288 [T/C] exm-rs3117231 6 33074908 [A/G] exm-rs3117230 6 33075635 [A/G] exm-rs11965763 6 33076682 [T/C] exm-rs9380343 6 33079166 [T/C] exm-rs6937034 6 33079766 [A/G] exm-rs9380345 6 33080359 [T/C] NR_001435 HLA-DPB2 EXON Silent exm-rs9366814 6 33080799 [T/G] NR_001435 HLA-DPB2 Silent exm-rs1810472 6 33083121 [T/C] NR_001435 HLA-DPB2 Silent exm-rs3129294 6 33084671 [A/C] NR_001435 HLA-DPB2 Silent exm-rs3117035 6 33086249 [T/C] NR_001435 HLA-DPB2 Silent exm-rs1883414 6 33086448 [A/G] NR_001435 HLA-DPB2 Silent exm-rs3117034 6 33087358 [A/T] NR_001435 HLA-DPB2 Silent exm-rs3129287 6 33089104 [T/G] NR_001435 HLA-DPB2 Silent exm-rs3129274 6 33094869 [T/C] NR_001435 HLA-DPB2 Silent exm-rs3117016 6 33095516 [A/G] NR_001435 HLA-DPB2 Silent exm-rs3117004 6 33096766 [A/G] NR_001435 HLA-DPB2 Silent exm-rs3116999 6 33097166 [C/G] exm-rs3129270 6 33097423 [T/C] exm-rs2294479 6 33098389 [C/G] exm-rs3129267 6 33098896 [C/G] exm-rs2294478 6 33098966 [A/C] exm-rs2294472 6 33099210 [A/G] exm-rs3129264 6 33101602 [A/G] exm-rs3129258 6 33105469 [A/G] exm-rs4711319 6 33107461 [A/G] exm-rs6457721 6 33107751 [T/G] exm-rs4713610 6 33107955 [T/G] exm-rs3129252 6 33108848 [T/A] exm-rs7750683 6 33110834 [A/G] exm-rs3129234 6 33111347 [T/C] exm-rs1003979 6 33114171 [T/C] exm-rs3130151 6 33115024 [T/C] exm-rs721394 6 33117818 [T/C] exm-rs6913635 6 33118937 [T/G] exm-rs726599 6 33121678 [T/C] exm-rs756440 6 33122331 [A/G] exm-rs721844 6 33123532 [T/C] exm-rs3129207 6 33125312 [G/C] exm-rs3130161 6 33125858 [A/C] exm-rs9380351 6 33129746 [A/G] exm-rs2235499 6 33129964 [T/G] exm537585 6 33131501 [A/G] NM_080681,NM_080679,NM_080680 COL11A2,COL11A2,COL11A2 EXON Missense_P1636L,Missense_P1615L,Missense_P1722L exm-rs2257126 6 33131734 [A/G] NM_080681,NM_080679,NM_080680 COL11A2,COL11A2,COL11A2 Silent,Silent,Silent exm537594 6 33132216 [T/C] NM_080681,NM_080679,NM_080680 COL11A2,COL11A2,COL11A2 EXON Missense_G1547D,Missense_G1526D,Missense_G1633D exm537595 6 33132638 [G/C] NM_080681,NM_080679,NM_080680 COL11A2,COL11A2,COL11A2 EXON Missense_D1532E,Missense_D1511E,Missense_D1618E exm537598 6 33132693 [T/C] NM_080681,NM_080679,NM_080680 COL11A2,COL11A2,COL11A2 EXON Missense_R1514Q,Missense_R1493Q,Missense_R1600Q exm537604 6 33133424 [T/C] NM_080681,NM_080679,NM_080680 COL11A2,COL11A2,COL11A2 EXON Missense_R1465Q,Missense_R1444Q,Missense_R1551Q exm537605 6 33133425 [A/G] NM_080681,NM_080679,NM_080680 COL11A2,COL11A2,COL11A2 EXON Missense_R1465W,Missense_R1444W,Missense_R1551W exm537611 6 33133569 [A/G] NM_080681,NM_080679,NM_080680 COL11A2,COL11A2,COL11A2 EXON Missense_P1417S,Missense_P1396S,Missense_P1503S exm537636 6 33135285 [T/G] NM_080681,NM_080679,NM_080680 COL11A2,COL11A2,COL11A2 EXON Missense_P1261Q,Missense_P1240Q,Missense_P1347Q exm537644 6 33136310 [T/G] NM_080681,NM_080679,NM_080680 COL11A2,COL11A2,COL11A2 EXON Missense_P1230T,Missense_P1209T,Missense_P1316T exm537645 6 33136529 [T/C] NM_080681,NM_080679,NM_080680 COL11A2,COL11A2,COL11A2 EXON Missense_D1201G,Missense_D1180G,Missense_D1287G exm-rs2855442 6 33137403 [T/C] NM_080681,NM_080679,NM_080680 COL11A2,COL11A2,COL11A2 Silent,Silent,Silent exm537660 6 33137845 [T/G] NM_080681,NM_080679,NM_080680 COL11A2,COL11A2,COL11A2 EXON Missense_N1119K,Missense_N1098K,Missense_N1205K exm-rs9368758 6 33138021 [A/G] NM_080681,NM_080679,NM_080680 COL11A2,COL11A2,COL11A2 Silent,Silent,Silent exm2122432 6 33138929 [A/G] NM_080681,NM_080679,NM_080680 COL11A2,COL11A2,COL11A2 EXON Missense_P1024S,Missense_P1003S,Missense_P1110S exm-rs2855437 6 33138955 [A/G] NM_080681,NM_080679,NM_080680 COL11A2,COL11A2,COL11A2 Silent,Silent,Silent exm537678 6 33139071 [T/G] NM_080681,NM_080679,NM_080680 COL11A2,COL11A2,COL11A2 EXON Missense_T1011P,Missense_T990P,Missense_T1097P exm-rs973233 6 33140009 [T/G] NM_080681,NM_080679,NM_080680 COL11A2,COL11A2,COL11A2 Silent,Silent,Silent exm537696 6 33140356 [A/G] NM_080681,NM_080679,NM_080680 COL11A2,COL11A2,COL11A2 EXON Missense_P864L,Missense_P843L,Missense_P950L exm-rs9277932 6 33141253 [T/G] NM_080681,NM_080679,NM_080680 COL11A2,COL11A2,COL11A2 Silent,Silent,Silent exm537704 6 33141280 [A/G] NM_080681,NM_080679,NM_080680 COL11A2,COL11A2,COL11A2 EXON Missense_P808L,Missense_P787L,Missense_P894L exm537709 6 33141678 [T/C] NM_080681,NM_080679,NM_080680 COL11A2,COL11A2,COL11A2 EXON Missense_R766Q,Missense_R745Q,Missense_R852Q exm537713 6 33141700 [A/G] NM_080681,NM_080679,NM_080680 COL11A2,COL11A2,COL11A2 EXON Missense_P759S,Missense_P738S,Missense_P845S exm537716 6 33141825 [A/G] NM_080681,NM_080679,NM_080680 COL11A2,COL11A2,COL11A2 EXON Missense_S745L,Missense_S724L,Missense_S831L exm537726 6 33143391 [A/G] NM_080681,NM_080679,NM_080680 COL11A2,COL11A2,COL11A2 EXON Missense_P693L,Missense_P672L,Missense_P779L exm-rs2071025 6 33143756 [A/G] NM_080681,NM_080679,NM_080680 COL11A2,COL11A2,COL11A2 Silent,Silent,Silent exm-rs2254287 6 33143948 [C/G] NM_080681,NM_080679,NM_080680 COL11A2,COL11A2,COL11A2 Silent,Silent,Silent exm537733 6 33144064 [T/C] NM_080681,NM_080679,NM_080680 COL11A2,COL11A2,COL11A2 EXON Missense_R643Q,Missense_R622Q,Missense_R729Q exm537734 6 33144068 [A/T] NM_080681,NM_080679,NM_080680 COL11A2,COL11A2,COL11A2 EXON Missense_I642F,Missense_I621F,Missense_I728F exm-rs1799908 6 33144243 [A/T] NM_080681,NM_080679,NM_080680 COL11A2,COL11A2,COL11A2 EXON Synonymous_G626G,Synonymous_G605G,Synonymous_G712G exm-rs2855425 6 33144373 [A/G] NM_080681,NM_080679,NM_080680 COL11A2,COL11A2,COL11A2 Silent,Silent,Silent exm537771 6 33146725 [T/C] NM_080681,NM_080679,NM_080680 COL11A2,COL11A2,COL11A2 EXON Missense_R460Q,Missense_R439Q,Missense_R546Q exm537772 6 33146726 [C/G] NM_080681,NM_080679,NM_080680 COL11A2,COL11A2,COL11A2 EXON Missense_R460G,Missense_R439G,Missense_R546G exm537773 6 33146747 [A/G] NM_080681,NM_080679,NM_080680 COL11A2,COL11A2,COL11A2 EXON Missense_R453W,Missense_R432W,Missense_R539W exm537785 6 33147560 [T/C] NM_080681,NM_080679,NM_080680 COL11A2,COL11A2,COL11A2 EXON Missense_G375D,Missense_G354D,Missense_G461D exm2122475 6 33147564 [A/C] NM_080681,NM_080679,NM_080680 COL11A2,COL11A2,COL11A2 EXON Missense_G374W,Missense_G353W,Missense_G460W exm537786 6 33147579 [A/G] NM_080681,NM_080679,NM_080680 COL11A2,COL11A2,COL11A2 EXON Missense_R369W,Missense_R348W,Missense_R455W exm-rs2855417 6 33148648 [G/C] NM_080681,NM_080679,NM_080680 COL11A2,COL11A2,COL11A2 Silent,Silent,Silent exm2122477 6 33148754 [A/G] NM_080681,NM_080679,NM_080680 COL11A2,COL11A2,COL11A2 EXON Missense_P317L,Missense_P296L,Missense_P403L exm537792 6 33148889 [A/G] NM_080681,NM_080679,NM_080680 COL11A2,COL11A2,COL11A2 EXON Missense_P307L,Missense_P286L,Missense_P393L exm537807 6 33152819 [T/C] NM_080681,NM_080679,NM_080680 COL11A2,COL11A2,COL11A2 EXON Missense_G271S,Silent,Missense_G297S exm-rs2744505 6 33153122 [G/C] NM_080681,NM_080679,NM_080680 COL11A2,COL11A2,COL11A2 Silent,Silent,Silent exm537815 6 33153528 [T/C] NM_080681,NM_080679,NM_080680 COL11A2,COL11A2,COL11A2 EXON Silent,Silent,Missense_E276K exm537818 6 33154366 [T/G] NM_080681,NM_080679,NM_080680,NM_001163771 COL11A2,COL11A2,COL11A2,COL11A2 EXON Silent,Silent,Silent,Missense_P279H exm537820 6 33154496 [A/G] NM_080681,NM_080679,NM_080680,NM_001163771 COL11A2,COL11A2,COL11A2,COL11A2 EXON Missense_P236S,Missense_P236S,Missense_P236S,Missense_P236S exm2122486 6 33154514 [A/C] NM_080681,NM_080679,NM_080680,NM_001163771 COL11A2,COL11A2,COL11A2,COL11A2 EXON Missense_G230W,Missense_G230W,Missense_G230W,Missense_G230W exm-rs2855459 6 33154656 [A/G] NM_080681,NM_080679,NM_080680,NM_001163771 COL11A2,COL11A2,COL11A2,COL11A2 Silent,Silent,Silent,Silent exm537828 6 33156228 [A/G] NM_080681,NM_080679,NM_080680,NM_001163771 COL11A2,COL11A2,COL11A2,COL11A2 EXON Missense_R173W,Missense_R173W,Missense_R173W,Missense_R173W exm537837 6 33156869 [T/C] NM_080681,NM_080679,NM_080680,NM_001163771 COL11A2,COL11A2,COL11A2,COL11A2 EXON Missense_R110Q,Missense_R110Q,Missense_R110Q,Missense_R110Q exm-rs2269346 6 33158898 [T/C] NM_080681,NM_080679,NM_080680,NM_001163771 COL11A2,COL11A2,COL11A2,COL11A2 Silent,Silent,Silent,Silent exm-rs9277935 6 33160425 [T/G] exm-rs2072915 6 33162082 [T/A] NM_021976,NM_001270401 RXRB,RXRB EXON Silent,Silent exm2122497 6 33164211 [A/G] NM_021976,NM_001270401 RXRB,RXRB EXON Synonymous_S331S,Synonymous_S331S exm537869 6 33164249 [T/C] NM_021976,NM_001270401 RXRB,RXRB EXON Missense_V319I,Missense_V319I exm537871 6 33164320 [A/G] NM_021976,NM_001270401 RXRB,RXRB EXON Missense_A295V,Missense_A295V exm-rs2076310 6 33166034 [A/G] NM_021976,NM_001270401 RXRB,RXRB Silent,Silent exm537899 6 33168716 [A/G] NM_006979,NM_001077516 SLC39A7,SLC39A7 EXON Silent,Silent exm537903 6 33169182 [T/C] NM_006979,NM_001077516 SLC39A7,SLC39A7 EXON Missense_F54L,Missense_F54L exm537909 6 33169221 [A/G] NM_006979,NM_001077516 SLC39A7,SLC39A7 EXON Missense_T67A,Missense_T67A exm537910 6 33169281 [A/G] NM_006979,NM_001077516 SLC39A7,SLC39A7 EXON Missense_D87N,Missense_D87N exm537914 6 33169392 [C/G] NM_006979,NM_001077516 SLC39A7,SLC39A7 EXON Missense_G124R,Missense_G124R exm537916 6 33169432 [A/T] NM_006979,NM_001077516 SLC39A7,SLC39A7 EXON Missense_Y137F,Missense_Y137F exm537929 6 33170102 [A/G] NM_006979,NM_001077516 SLC39A7,SLC39A7 EXON Missense_V233M,Missense_V233M exm537934 6 33170384 [A/C] NM_006979,NM_001077516 SLC39A7,SLC39A7 EXON Missense_T283P,Missense_T283P exm537940 6 33170803 [A/G] NM_006979,NM_001077516 SLC39A7,SLC39A7 EXON Missense_M353V,Missense_M353V exm537943 6 33170860 [T/C] NM_006979,NM_001077516 SLC39A7,SLC39A7 EXON Nonsense_Q372X,Nonsense_Q372X exm537955 6 33172446 [A/G] NM_014234 HSD17B8 EXON Missense_M1V exm537958 6 33172479 [T/G] NM_014234 HSD17B8 EXON Missense_A12S exm537963 6 33172705 [G/C] NM_014234 HSD17B8 EXON Missense_V27L exm537980 6 33173227 [A/G] NM_014234 HSD17B8 EXON Missense_T131A exm537986 6 33173607 [A/G] NM_014234 HSD17B8 EXON Missense_H190R exm537990 6 33173666 [C/G] NM_014234 HSD17B8 EXON Missense_V210L exm-rs439205 6 33173842 [A/G] NM_014234 HSD17B8 Silent exm-rs421446 6 33174783 [A/G] exm-rs213210 6 33175824 [A/G] exm-rs213209 6 33176958 [T/C] NM_002931 RING1 Silent exm538020 6 33179062 [A/G] NM_002931 RING1 EXON Missense_A195T exm538038 6 33179660 [A/G] NM_002931 RING1 EXON Missense_G334R exm-rs2854028 6 33179689 [T/C] NM_002931 RING1 EXON Synonymous_D343D exm-rs213213 6 33183730 [T/C] exm-rs213212 6 33185918 [A/C] exm-rs439121 6 33192867 [A/C] exm-rs9277946 6 33194717 [T/C] exm-rs213194 6 33195604 [A/G] exm-rs213226 6 33209310 [A/G] exm-rs7755161 6 33213755 [T/C] exm-rs461338 6 33218180 [T/C] NR_044997,NM_022553 HCG25,VPS52 EXON Silent,Silent exm538056 6 33219335 [T/C] NR_044997,NM_022553 HCG25,VPS52 EXON Silent,Missense_R662Q exm538059 6 33219675 [A/G] NR_044997,NM_022553 HCG25,VPS52 EXON Silent,Missense_I623T exm-rs462618 6 33222163 [T/G] NR_044997,NM_022553 HCG25,VPS52 Silent,Silent exm538060 6 33231323 [A/G] NM_022553 VPS52 EXON Missense_R578W exm-rs213202 6 33232055 [A/G] NM_022553 VPS52 Silent exm-rs6935726 6 33232522 [T/G] NM_022553 VPS52 Silent exm538092 6 33235099 [A/G] NM_022553 VPS52 Silent exm-rs213199 6 33235755 [A/G] NM_022553 VPS52 EXON Synonymous_L274L exm538103 6 33236283 [T/C] NM_022553 VPS52 EXON Missense_R231Q exm538122 6 33237526 [T/C] NM_022553 VPS52 EXON Missense_R100Q exm538133 6 33238059 [A/G] NM_022553 VPS52 EXON Missense_A31V exm538140 6 33239446 [T/C] NM_022553 VPS52 EXON Missense_A3T exm-rs213204 6 33241076 [A/C] NM_022551 RPS18 Silent exm-rs463302 6 33244716 [G/C] exm538192 6 33245441 [A/C] NM_003782 B3GALT4 EXON Missense_E82A exm2122602 6 33245558 [C/G] NM_003782 B3GALT4 EXON Missense_W121S exm2257770 6 33245868 [A/T] NM_003782 B3GALT4 EXON Synonymous_L224L exm538223 6 33247085 [A/G] NM_005452,NM_001164267 WDR46,WDR46 EXON Missense_R601W,Missense_R547W exm538232 6 33247606 [A/G] NM_005452,NM_001164267 WDR46,WDR46 EXON Nonsense_R519X,Nonsense_R465X exm-rs9469395 6 33247983 [A/G] NM_005452,NM_001164267 WDR46,WDR46 Silent,Silent exm538242 6 33248248 [T/C] NM_005452,NM_001164267 WDR46,WDR46 EXON Missense_R494Q,Missense_R440Q exm2122619 6 33248616 [T/C] NM_005452,NM_001164267 WDR46,WDR46 EXON Missense_V422I,Missense_V368I exm-rs469064 6 33250476 [A/C] NM_005452,NM_001164267 WDR46,WDR46 Silent,Silent exm-rs455567 6 33252115 [A/G] NM_005452,NM_001164267 WDR46,WDR46 Silent,Silent exm-rs6907034 6 33252661 [T/C] NM_005452,NM_001164267 WDR46,WDR46 Silent,Silent exm538276 6 33254665 [A/G] NM_005452,NM_001164267 WDR46,WDR46 EXON Missense_V341A,Missense_V287A exm538281 6 33254919 [T/C] NM_005452,NM_001164267 WDR46,WDR46 EXON Missense_V322I,Missense_V268I exm538301 6 33256138 [A/G] NM_005452,NM_001164267 WDR46,WDR46 EXON Missense_P157L,Missense_P103L exm538303 6 33256156 [T/A] NM_005452,NM_001164267 WDR46,WDR46 EXON Missense_L151Q,Missense_L97Q exm-rs9277965 6 33256397 [A/G] NM_005452,NM_001164267 WDR46,WDR46 EXON Synonymous_S118S,Synonymous_S64S exm538307 6 33256471 [T/C] NM_005452,NM_001164267 WDR46,WDR46 EXON Missense_T94A,Missense_T40A exm538324 6 33257969 [T/C] NM_001265595,NM_001265596,NM_014260,NM_001185181 PFDN6,PFDN6,PFDN6,PFDN6 EXON Missense_S28L,Missense_S28L,Missense_S28L,Missense_S28L exm-rs456261 6 33258443 [A/G] NM_001265595,NM_001265596,NM_014260,NM_001185181 PFDN6,PFDN6,PFDN6,PFDN6 Silent,Silent,Silent,Silent exm538343 6 33260036 [T/C] NM_001243738,NM_004761 RGL2,RGL2 EXON Missense_H644R,Missense_H726R exm538348 6 33260215 [T/C] NM_001243738,NM_004761 RGL2,RGL2 EXON Missense_G623E,Missense_G705E exm538362 6 33261007 [A/G] NM_001243738,NM_004761 RGL2,RGL2 EXON Missense_P516L,Missense_P598L exm538364 6 33261034 [G/C] NM_001243738,NM_004761 RGL2,RGL2 EXON Missense_S507T,Missense_S589T exm538367 6 33261200 [T/C] NM_001243738,NM_004761 RGL2,RGL2 EXON Missense_R487Q,Missense_R569Q exm-rs2239842 6 33261871 [A/G] NM_001243738,NM_004761 RGL2,RGL2 Silent,Silent exm538399 6 33262909 [T/C] NM_001243738,NM_004761 RGL2,RGL2 EXON Missense_V320M,Missense_V402M exm538400 6 33262945 [T/C] NM_001243738,NM_004761 RGL2,RGL2 EXON Missense_E308K,Missense_E390K exm538412 6 33263806 [A/G] NM_001243738,NM_004761 RGL2,RGL2 EXON Missense_A174V,Missense_A256V exm538417 6 33263933 [A/G] NM_001243738,NM_004761 RGL2,RGL2 EXON Missense_R132W,Missense_R214W exm2122672 6 33263944 [T/C] NM_001243738,NM_004761 RGL2,RGL2 EXON Missense_N128S,Missense_N210S exm538429 6 33264444 [A/G] NM_001243738,NM_004761 RGL2,RGL2 EXON Missense_M35T,Missense_M117T exm538431 6 33264523 [A/G] NM_001243738,NM_004761 RGL2,RGL2 EXON Missense_R9W,Missense_R91W exm-rs1059297 6 33267528 [G/C] NM_003190,NM_172209 TAPBP,TAPBP EXON Silent,Silent exm538449 6 33271606 [C/G] NM_003190,NM_172209,NM_172208 TAPBP,TAPBP,TAPBP EXON Silent,Silent,Missense_W487C exm538457 6 33271971 [T/C] NM_003190,NM_172209,NM_172208 TAPBP,TAPBP,TAPBP EXON Missense_D412N,Missense_D325N,Missense_D412N exm538468 6 33272181 [A/G] NM_003190,NM_172209,NM_172208 TAPBP,TAPBP,TAPBP EXON Missense_P368L,Missense_P281L,Missense_P368L exm538476 6 33272286 [T/C] NM_003190,NM_172209,NM_172208 TAPBP,TAPBP,TAPBP EXON Missense_R333Q,Missense_R246Q,Missense_R333Q exm-rs12664430 6 33272677 [T/C] NM_003190,NM_172209,NM_172208 TAPBP,TAPBP,TAPBP Silent,Silent,Silent exm538489 6 33272813 [T/G] NM_003190,NM_172209,NM_172208 TAPBP,TAPBP,TAPBP EXON Missense_H274P,Missense_H187P,Missense_H274P exm538501 6 33273011 [T/C] NM_003190,NM_172209,NM_172208 TAPBP,TAPBP,TAPBP EXON Missense_R208H,Missense_R121H,Missense_R208H exm538502 6 33273044 [A/G] NM_003190,NM_172209,NM_172208 TAPBP,TAPBP,TAPBP EXON Missense_P197L,Missense_P110L,Missense_P197L exm538503 6 33273060 [T/C] NM_003190,NM_172209,NM_172208 TAPBP,TAPBP,TAPBP EXON Missense_A192T,Missense_A105T,Missense_A192T exm538505 6 33273071 [A/G] NM_003190,NM_172209,NM_172208 TAPBP,TAPBP,TAPBP EXON Missense_T188I,Missense_T101I,Missense_T188I exm538507 6 33273078 [A/G] NM_003190,NM_172209,NM_172208 TAPBP,TAPBP,TAPBP EXON Missense_P186S,Missense_P99S,Missense_P186S exm-rs3106190 6 33280629 [C/G] NM_003190,NM_172209,NM_172208 TAPBP,TAPBP,TAPBP Silent,Silent,Silent exm538518 6 33281504 [A/C] NM_003190,NM_172209,NM_172208 TAPBP,TAPBP,TAPBP EXON Missense_D59Y,Missense_D59Y,Missense_D59Y exm538523 6 33281576 [T/C] NM_003190,NM_172209,NM_172208 TAPBP,TAPBP,TAPBP EXON Missense_G35R,Missense_G35R,Missense_G35R exm-rs3106189 6 33282002 [T/C] NM_003190,NM_172209,NM_172208 TAPBP,TAPBP,TAPBP EXON Silent,Silent,Silent exm2122700 6 33282824 [T/C] NM_005453,NM_001145338 ZBTB22,ZBTB22 EXON Missense_E624K,Missense_E624K exm538534 6 33282922 [T/C] NM_005453,NM_001145338 ZBTB22,ZBTB22 EXON Missense_E591G,Missense_E591G exm2122709 6 33283324 [T/C] NM_005453,NM_001145338 ZBTB22,ZBTB22 EXON Missense_G457E,Missense_G457E exm538546 6 33283363 [T/G] NM_005453,NM_001145338 ZBTB22,ZBTB22 EXON Missense_P444Q,Missense_P444Q exm538547 6 33283364 [A/G] NM_005453,NM_001145338 ZBTB22,ZBTB22 EXON Missense_P444S,Missense_P444S exm538551 6 33283451 [A/G] NM_005453,NM_001145338 ZBTB22,ZBTB22 EXON Missense_P415S,Missense_P415S exm538558 6 33283594 [A/G] NM_005453,NM_001145338 ZBTB22,ZBTB22 EXON Missense_P367L,Missense_P367L exm538564 6 33283766 [T/C] NM_005453,NM_001145338 ZBTB22,ZBTB22 EXON Missense_T310A,Missense_T310A exm538573 6 33283945 [C/G] NM_005453,NM_001145338 ZBTB22,ZBTB22 EXON Missense_G250A,Missense_G250A exm538574 6 33283955 [T/C] NM_005453,NM_001145338 ZBTB22,ZBTB22 EXON Missense_V247I,Missense_V247I exm538615 6 33286923 [A/G] NM_001350,NM_001141970,NM_001254717,NM_001141969 DAXX,DAXX,DAXX,DAXX EXON Missense_P672S,Missense_P684S,Missense_P597S,Missense_P672S exm538621 6 33287248 [T/C] NM_001350,NM_001141970,NM_001254717,NM_001141969 DAXX,DAXX,DAXX,DAXX EXON Missense_V617I,Missense_V629I,Missense_V542I,Missense_V617I exm538624 6 33287440 [T/C] NM_001350,NM_001141970,NM_001254717,NM_001141969 DAXX,DAXX,DAXX,DAXX EXON Missense_E553K,Missense_E565K,Missense_E478K,Missense_E553K exm538627 6 33287520 [T/C] NM_001350,NM_001141970,NM_001254717,NM_001141969 DAXX,DAXX,DAXX,DAXX EXON Missense_R526H,Missense_R538H,Missense_R451H,Missense_R526H exm-rs2239839 6 33288075 [A/C] NM_001350,NM_001141970,NM_001254717,NM_001141969 DAXX,DAXX,DAXX,DAXX Silent,Silent,Silent,Silent exm538646 6 33288168 [T/C] NM_001350,NM_001141970,NM_001254717,NM_001141969 DAXX,DAXX,DAXX,DAXX EXON Missense_D414N,Missense_D426N,Missense_D339N,Missense_D414N exm538651 6 33288285 [T/C] NM_001350,NM_001141970,NM_001254717,NM_001141969 DAXX,DAXX,DAXX,DAXX EXON Missense_V375I,Missense_V387I,Missense_V300I,Missense_V375I exm2122734 6 33288573 [A/G] NM_001350,NM_001141970,NM_001254717,NM_001141969 DAXX,DAXX,DAXX,DAXX EXON Nonsense_R327X,Nonsense_R339X,Nonsense_R252X,Nonsense_R327X exm538661 6 33288656 [T/C] NM_001350,NM_001141970,NM_001254717,NM_001141969 DAXX,DAXX,DAXX,DAXX EXON Missense_R299Q,Missense_R311Q,Missense_R224Q,Missense_R299Q exm538699 6 33290672 [G/C] NM_001350,NM_001141970,NM_001254717,NM_001141969 DAXX,DAXX,DAXX,DAXX EXON Silent,Missense_C7S,Silent,Silent exm-rs6908509 6 33300271 [T/G] exm-rs3130267 6 33306794 [T/G] exm-rs3135405 6 33311242 [A/G] exm-rs3130014 6 33312308 [A/G] exm-rs3130013 6 33313427 [A/C] exm-rs211476 6 33319596 [T/G] exm-rs211474 6 33320613 [A/G] exm-rs3117324 6 33324527 [T/G] exm-rs3106192 6 33326250 [A/G] exm-rs211455 6 33328518 [A/G] exm-rs11962790 6 33329522 [T/G] exm-rs3130275 6 33332137 [A/G] exm-rs211449 6 33333916 [T/G] exm-rs456993 6 33358278 [T/C] exm-rs465223 6 33359716 [G/C] NM_002263 KIFC1 EXON Silent exm538709 6 33365808 [T/G] NM_002263 KIFC1 EXON Missense_R5S exm538718 6 33366087 [T/C] NM_002263 KIFC1 EXON Missense_A58V exm538726 6 33371121 [A/G] NM_002263 KIFC1 EXON Missense_R94Q exm538731 6 33371778 [A/C] NM_002263 KIFC1 EXON Missense_R210S exm538740 6 33372690 [A/G] NM_002263 KIFC1 EXON Missense_R273Q exm538742 6 33372738 [A/G] NM_002263 KIFC1 EXON Missense_R289H exm538746 6 33372831 [T/C] NM_002263 KIFC1 EXON Missense_V320A exm538748 6 33372837 [T/C] NM_002263 KIFC1 EXON Missense_P322L exm538757 6 33372980 [T/C] NM_002263 KIFC1 EXON Missense_H370Y exm538770 6 33373301 [A/G] NM_002263 KIFC1 EXON Missense_T477A exm538772 6 33373305 [A/G] NM_002263 KIFC1 EXON Missense_R478Q exm538775 6 33373341 [T/C] NM_002263 KIFC1 EXON Missense_A490V exm538778 6 33373997 [T/C] NM_002263 KIFC1 EXON Missense_R521C exm538783 6 33374054 [A/G] NM_002263 KIFC1 EXON Missense_S540G exm2122765 6 33374159 [A/G] NM_002263 KIFC1 EXON Missense_G575S exm538786 6 33374171 [A/G] NM_002263 KIFC1 EXON Missense_G579S exm538797 6 33374614 [A/G] NM_002263 KIFC1 EXON Missense_V647I exm538809 6 33380066 [A/G] NM_002636,NR_027692,NM_024165 PHF1,PHF1,PHF1 EXON Missense_R9H,Silent,Missense_R9H exm538813 6 33380199 [A/G] NM_002636,NR_027692,NM_024165 PHF1,PHF1,PHF1 EXON Synonymous_K53K,Silent,Synonymous_K53K exm538816 6 33381026 [A/G] NM_002636,NR_027692,NM_024165 PHF1,PHF1,PHF1 EXON Missense_G131S,Silent,Missense_G131S exm538829 6 33382288 [A/G] NM_002636,NR_027692,NM_024165 PHF1,PHF1,PHF1 EXON Missense_R304K,Silent,Missense_R304K exm538834 6 33382581 [G/C] NM_002636,NR_027692,NM_024165 PHF1,PHF1,PHF1 EXON Missense_P342A,Silent,Missense_P342A exm538840 6 33382818 [A/G] NM_002636,NR_027692,NM_024165 PHF1,PHF1,PHF1 EXON Synonymous_E375E,Silent,Missense_R379K exm538844 6 33382874 [A/G] NM_002636,NR_027692,NM_024165 PHF1,PHF1,PHF1 EXON Missense_R394Q,Silent,Missense_E398K exm538855 6 33383383 [T/A] NM_002636,NR_027692,NM_024165 PHF1,PHF1,PHF1 EXON Nonsense_C415X,Silent,Missense_F451I exm538877 6 33384473 [T/C] NM_001014838,NM_001014837,NM_001014433,NM_015921,NM_001014840 CUTA,CUTA,CUTA,CUTA,CUTA EXON Missense_R142H,Missense_R142H,Missense_R184H,Missense_R142H,Missense_R165H exm538880 6 33384542 [A/G] NM_001014838,NM_001014837,NM_001014433,NM_015921,NM_001014840 CUTA,CUTA,CUTA,CUTA,CUTA EXON Missense_P119L,Missense_P119L,Missense_P161L,Missense_P119L,Missense_P142L exm538883 6 33384698 [A/G] NM_001014838,NM_001014837,NM_001014433,NM_015921,NM_001014840 CUTA,CUTA,CUTA,CUTA,CUTA EXON Missense_R115C,Missense_R115C,Missense_R157C,Missense_R115C,Missense_R138C exm538884 6 33384730 [G/C] NM_001014838,NM_001014837,NM_001014433,NM_015921,NM_001014840 CUTA,CUTA,CUTA,CUTA,CUTA EXON Missense_S104T,Missense_S104T,Missense_S146T,Missense_S104T,Missense_S127T exm538885 6 33384734 [T/G] NM_001014838,NM_001014837,NM_001014433,NM_015921,NM_001014840 CUTA,CUTA,CUTA,CUTA,CUTA EXON Missense_Q103K,Missense_Q103K,Missense_Q145K,Missense_Q103K,Missense_Q126K exm538902 6 33385887 [A/G] NM_001014838,NM_001014837,NM_001014433,NM_015921,NM_001014840 CUTA,CUTA,CUTA,CUTA,CUTA EXON Silent,Silent,Missense_S26P,Silent,Silent exm538907 6 33385953 [A/G] NM_001014838,NM_001014837,NM_001014433,NM_015921,NM_001014840 CUTA,CUTA,CUTA,CUTA,CUTA EXON Silent,Silent,Missense_S4P,Silent,Silent exm-rs211456 6 33389381 [T/G] NM_006772 SYNGAP1 Silent exm-rs453590 6 33403422 [T/C] NM_006772 SYNGAP1 Silent exm538940 6 33405980 [T/C] NM_006772 SYNGAP1 EXON Missense_A433V exm538985 6 33410683 [C/G] NM_006772 SYNGAP1 EXON Missense_R785P exm539003 6 33411033 [A/G] NM_006772 SYNGAP1 EXON Missense_A902T exm539016 6 33411463 [C/G] NM_006772 SYNGAP1 EXON Missense_A1045G exm539024 6 33411673 [T/C] NM_006772 SYNGAP1 EXON Missense_I1115T exm2243948 6 33419580 [T/C] NM_006772 SYNGAP1 EXON Missense_T1310M exm539039 6 33422912 [T/C] NM_152735 ZBTB9 EXON Missense_A12V exm539047 6 33423004 [G/C] NM_152735 ZBTB9 EXON Missense_L43V exm539053 6 33423109 [T/C] NM_152735 ZBTB9 EXON Missense_L78F exm539056 6 33423143 [G/C] NM_152735 ZBTB9 EXON Missense_S89T exm539063 6 33423272 [A/G] NM_152735 ZBTB9 EXON Missense_D132G exm539064 6 33423311 [A/G] NM_152735 ZBTB9 EXON Missense_G145D exm539065 6 33423341 [T/C] NM_152735 ZBTB9 EXON Missense_S155F exm-rs1755047 6 33431319 [C/G] exm-rs9394152 6 33465482 [T/C] exm-rs769051 6 33473894 [T/G] exm-rs9296092 6 33478496 [A/G] exm-rs210192 6 33481204 [A/G] exm-rs210180 6 33485259 [T/A] exm-rs449242 6 33496714 [T/G] exm-rs210196 6 33507723 [A/G] exm-rs210152 6 33515520 [A/G] exm-rs210170 6 33525680 [T/C] exm-rs210132 6 33536670 [T/G] exm-rs210138 6 33542538 [A/G] NM_001188 BAK1 Silent exm-rs210139 6 33543409 [A/C] NM_001188 BAK1 Silent exm539129 6 33543693 [A/G] NM_001188 BAK1 EXON Missense_A28V exm-rs375555 6 33557741 [T/C] NR_027908 LINC00336 Silent exm-rs210120 6 33574413 [A/G] exm-rs499384 6 33582090 [A/G] exm539164 6 33589404 [T/C] NM_002224 ITPR3 EXON Missense_H9Y exm539176 6 33608330 [T/C] NM_002224 ITPR3 EXON Synonymous_R53R exm-rs999943 6 33624733 [A/G] NM_002224 ITPR3 Silent exm539201 6 33626605 [T/C] NM_002224 ITPR3 EXON Synonymous_N176N exm-rs2296343 6 33626717 [T/C] NM_002224 ITPR3 Silent exm539211 6 33627298 [A/G] NM_002224 ITPR3 EXON Missense_R228Q exm539221 6 33631299 [A/G] NM_002224 ITPR3 EXON Missense_D326G exm2122910 6 33631519 [T/C] NM_002224 ITPR3 EXON Missense_A337V exm539224 6 33631630 [T/G] NM_002224 ITPR3 EXON Missense_L374W exm2266178 6 33632014 [A/G] NM_002224 ITPR3 Silent exm539230 6 33632717 [A/G] NM_002224 ITPR3 EXON Missense_I407V exm539242 6 33634933 [T/C] NM_002224 ITPR3 EXON Missense_R527C exm539245 6 33634942 [C/G] NM_002224 ITPR3 EXON Missense_G530R exm539253 6 33635567 [A/G] NM_002224 ITPR3 Silent exm539270 6 33636890 [T/C] NM_002224 ITPR3 EXON Missense_R716W exm2122933 6 33638138 [A/C] NM_002224 ITPR3 EXON Missense_D742E exm-rs2229634 6 33638180 [T/C] NM_002224 ITPR3 EXON Synonymous_G756G exm539282 6 33638335 [T/C] NM_002224 ITPR3 EXON Missense_T808I exm2122939 6 33638453 [A/G] NM_002224 ITPR3 EXON Missense_D816G exm539289 6 33638551 [A/G] NM_002224 ITPR3 EXON Missense_V849M exm539291 6 33638948 [A/C] NM_002224 ITPR3 EXON Missense_S865R exm539292 6 33638949 [T/G] NM_002224 ITPR3 EXON Missense_S865I exm539300 6 33639821 [T/G] NM_002224 ITPR3 EXON Missense_R915L exm539313 6 33642012 [T/G] NM_002224 ITPR3 EXON Missense_G1029V exm2122965 6 33643512 [T/C] NM_002224 ITPR3 EXON Missense_M1054T exm539322 6 33644564 [T/C] NM_002224 ITPR3 EXON Missense_A1101V exm539333 6 33644792 [T/C] NM_002224 ITPR3 EXON Missense_R1150C exm539335 6 33644804 [A/G] NM_002224 ITPR3 EXON Missense_E1154K exm539363 6 33647700 [T/A] NM_002224 ITPR3 EXON Missense_D1338E exm539366 6 33647743 [T/C] NM_002224 ITPR3 EXON Missense_R1353C exm539383 6 33648115 [T/G] NM_002224 ITPR3 EXON Missense_A1412S exm2122982 6 33648197 [T/C] NM_002224 ITPR3 EXON Missense_T1439M exm539389 6 33648228 [T/C] NM_002224 ITPR3 Silent exm539416 6 33651121 [A/G] NM_002224 ITPR3 EXON Missense_V1579I exm539420 6 33651158 [T/C] NM_002224 ITPR3 EXON Missense_I1591T exm2243961 6 33651899 [A/G] NM_002224 ITPR3 EXON Missense_G1631S exm539438 6 33652456 [A/C] NM_002224 ITPR3 EXON Missense_I1710L exm539441 6 33652566 [C/G] NM_002224 ITPR3 EXON Missense_W1718S exm539443 6 33652626 [A/G] NM_002224 ITPR3 EXON Missense_C1738Y exm539452 6 33653211 [T/C] NM_002224 ITPR3 EXON Missense_R1795W exm539453 6 33653221 [A/G] NM_002224 ITPR3 EXON Missense_Q1798R exm539458 6 33653284 [A/G] NM_002224 ITPR3 EXON Missense_R1819H exm539461 6 33653458 [T/C] NM_002224 ITPR3 EXON Missense_R1841C exm539462 6 33653461 [T/C] NM_002224 ITPR3 EXON Missense_Y1842H exm539464 6 33653486 [A/G] NM_002224 ITPR3 EXON Missense_R1850Q exm539466 6 33653506 [T/C] NM_002224 ITPR3 EXON Missense_R1857C exm539475 6 33653971 [A/G] NM_002224 ITPR3 EXON Missense_V1937I exm539478 6 33654193 [T/C] NM_002224 ITPR3 EXON Missense_I1959T exm2123024 6 33655307 [T/G] NM_002224 ITPR3 EXON Missense_I2077S exm539518 6 33657016 [T/C] NM_002224 ITPR3 EXON Synonymous_G2232G exm539529 6 33657826 [A/G] NM_002224 ITPR3 EXON Missense_V2295M exm539544 6 33658853 [G/C] NM_002224 ITPR3 EXON Missense_E2398Q exm539549 6 33659407 [T/C] NM_002224 ITPR3 EXON Missense_M2414T exm539552 6 33659472 [G/C] NM_002224 ITPR3 EXON Missense_L2436V exm539553 6 33659476 [T/C] NM_002224 ITPR3 EXON Missense_S2437L exm539567 6 33660554 [T/C] NM_002224 ITPR3 EXON Missense_I2503T exm539572 6 33660634 [A/G] NM_002224 ITPR3 EXON Missense_K2530E exm539609 6 33665458 [T/C] NM_032340 MNF1 EXON Missense_K118R exm539612 6 33665490 [T/C] NM_032340 MNF1 EXON Missense_M107I exm-rs498114 6 33671857 [T/G] NM_032340 MNF1 Silent exm539633 6 33679419 [T/G] NM_032340 MNF1 EXON Missense_E15D exm-rs549652 6 33686103 [A/G] exm539641 6 33690597 [T/G] NM_001142883,NM_054111 IP6K3,IP6K3 EXON Missense_Y378S,Missense_Y378S exm539645 6 33690634 [A/G] NM_001142883,NM_054111 IP6K3,IP6K3 EXON Missense_R366C,Missense_R366C exm539648 6 33690667 [T/C] NM_001142883,NM_054111 IP6K3,IP6K3 EXON Missense_S355G,Missense_S355G exm539650 6 33690679 [T/C] NM_001142883,NM_054111 IP6K3,IP6K3 EXON Missense_A351T,Missense_A351T exm539651 6 33690691 [T/C] NM_001142883,NM_054111 IP6K3,IP6K3 EXON Missense_E347K,Missense_E347K exm539652 6 33690720 [T/C] NM_001142883,NM_054111 IP6K3,IP6K3 EXON Missense_E337G,Missense_E337G exm539660 6 33690796 [T/C] NM_001142883,NM_054111 IP6K3,IP6K3 EXON Missense_V312I,Missense_V312I exm539662 6 33690807 [A/G] NM_001142883,NM_054111 IP6K3,IP6K3 EXON Missense_A308V,Missense_A308V exm2123089 6 33690846 [A/C] NM_001142883,NM_054111 IP6K3,IP6K3 EXON Missense_R295L,Missense_R295L exm539666 6 33690901 [T/C] NM_001142883,NM_054111 IP6K3,IP6K3 EXON Missense_V277M,Missense_V277M exm539667 6 33690941 [C/G] NM_001142883,NM_054111 IP6K3,IP6K3 EXON Nonsense_Y263X,Nonsense_Y263X exm2274144 6 33693264 [A/G] NM_001142883,NM_054111 IP6K3,IP6K3 EXON Missense_A240V,Missense_A240V exm2123102 6 33694583 [T/C] NM_001142883,NM_054111 IP6K3,IP6K3 EXON Missense_N172D,Missense_N172D exm2123103 6 33694588 [T/C] NM_001142883,NM_054111 IP6K3,IP6K3 EXON Missense_S170N,Missense_S170N exm539687 6 33694630 [A/G] NM_001142883,NM_054111 IP6K3,IP6K3 EXON Missense_S156L,Missense_S156L exm539696 6 33695880 [A/G] NM_001142883,NM_054111 IP6K3,IP6K3 EXON Missense_R133C,Missense_R133C exm539699 6 33695919 [T/C] NM_001142883,NM_054111 IP6K3,IP6K3 EXON Missense_D120N,Missense_D120N exm539700 6 33695951 [A/G] NM_001142883,NM_054111 IP6K3,IP6K3 EXON Missense_T109M,Missense_T109M exm2257772 6 33695971 [T/C] NM_001142883,NM_054111 IP6K3,IP6K3 EXON Synonymous_A102A,Synonymous_A102A exm2123107 6 33695975 [A/G] NM_001142883,NM_054111 IP6K3,IP6K3 EXON Missense_S101L,Missense_S101L exm2274145 6 33695981 [A/G] NM_001142883,NM_054111 IP6K3,IP6K3 EXON Missense_T99I,Missense_T99I exm-rs471942 6 33696785 [T/C] NM_001142883,NM_054111 IP6K3,IP6K3 Silent,Silent exm539706 6 33703076 [A/G] NM_001142883,NM_054111 IP6K3,IP6K3 EXON Missense_R60W,Missense_R60W exm539708 6 33703117 [T/C] NM_001142883,NM_054111 IP6K3,IP6K3 EXON Missense_R46Q,Missense_R46Q exm539712 6 33703163 [T/C] NM_001142883,NM_054111 IP6K3,IP6K3 EXON Missense_V31M,Missense_V31M exm539715 6 33703208 [T/C] NM_001142883,NM_054111 IP6K3,IP6K3 EXON Missense_V16M,Missense_V16M exm539716 6 33703211 [G/C] NM_001142883,NM_054111 IP6K3,IP6K3 EXON Missense_G15R,Missense_G15R exm-rs9469578 6 33706479 [T/C] NM_001142883,NM_054111 IP6K3,IP6K3 Silent,Silent exm-rs943463 6 33719877 [T/C] exm-rs1536500 6 33723383 [T/C] exm-rs2395449 6 33728755 [A/T] exm539733 6 33740487 [A/G] NM_181336,NM_001143944 LEMD2,LEMD2 EXON Missense_T477M,Missense_T175M exm539735 6 33740541 [T/C] NM_181336,NM_001143944 LEMD2,LEMD2 EXON Missense_R459H,Missense_R157H exm-rs2296748 6 33745071 [T/C] NM_181336,NM_001143944 LEMD2,LEMD2 Silent,Silent exm539757 6 33747892 [T/C] NM_181336,NM_001143944 LEMD2,LEMD2 EXON Missense_K332R,Missense_K30R exm539762 6 33748867 [T/C] NM_181336,NM_001143944 LEMD2,LEMD2 EXON Missense_Q306R,Missense_Q4R exm-rs2182659 6 33751767 [A/G] NM_181336,NM_001143944 LEMD2,LEMD2 Silent,Silent exm-rs2395402 6 33753673 [A/G] NM_181336,NM_001143944 LEMD2,LEMD2 Silent,Silent exm-rs756138 6 33755711 [G/C] NM_181336 LEMD2 Silent exm-rs2274459 6 33762242 [A/G] exm-rs751727 6 33764158 [A/G] NM_002418,NM_001184698,NM_001040109 MLN,MLN,MLN Silent,Silent,Silent exm539813 6 33768867 [C/G] NM_002418,NM_001184698,NM_001040109 MLN,MLN,MLN EXON Missense_A25G,Missense_A25G,Missense_A25G exm539815 6 33768897 [A/G] NM_002418,NM_001184698,NM_001040109 MLN,MLN,MLN EXON Missense_V15A,Missense_V15A,Missense_V15A exm539816 6 33768898 [T/C] NM_002418,NM_001184698,NM_001040109 MLN,MLN,MLN EXON Missense_V15I,Missense_V15I,Missense_V15I exm539818 6 33768931 [A/G] NM_002418,NM_001184698,NM_001040109 MLN,MLN,MLN EXON Missense_R4C,Missense_R4C,Missense_R4C exm-rs2894342 6 33774394 [A/C] exm-rs1547668 6 33775446 [A/G] exm2266179 6 33843759 [A/G] exm2270464 6 33991368 [T/C] NM_001256814,NM_001256810,NM_001256809,NR_046379,NM_001256813,NM_001256811,NM_001256812,NM_000841 GRM4,GRM4,GRM4,GRM4,GRM4,GRM4,GRM4,GRM4 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm539862 6 34003945 [T/C] NM_001256814,NM_001256810,NM_001256809,NR_046379,NM_001256813,NM_001256811,NM_001256812,NM_000841 GRM4,GRM4,GRM4,GRM4,GRM4,GRM4,GRM4,GRM4 EXON Missense_D508N,Missense_D340N,Missense_D532N,Silent,Missense_D515N,Missense_D601N,Missense_D479N,Missense_D648N exm539878 6 34004293 [T/C] NM_001256814,NM_001256810,NM_001256809,NR_046379,NM_001256813,NM_001256811,NM_001256812,NM_000841 GRM4,GRM4,GRM4,GRM4,GRM4,GRM4,GRM4,GRM4 EXON Missense_T392A,Missense_T224A,Missense_T416A,Silent,Missense_T399A,Missense_T485A,Missense_T363A,Missense_T532A exm2257775 6 34007979 [A/G] NM_001256814,NM_001256810,NM_001256809,NR_046379,NM_001256813,NM_001256811,NM_001256812,NM_000841 GRM4,GRM4,GRM4,GRM4,GRM4,GRM4,GRM4,GRM4 EXON Synonymous_S354S,Synonymous_S186S,Synonymous_S378S,Silent,Synonymous_S361S,Synonymous_S447S,Synonymous_S325S,Synonymous_S494S exm539887 6 34008014 [A/G] NM_001256814,NM_001256810,NM_001256809,NR_046379,NM_001256813,NM_001256811,NM_001256812,NM_000841 GRM4,GRM4,GRM4,GRM4,GRM4,GRM4,GRM4,GRM4 EXON Missense_R343C,Missense_R175C,Missense_R367C,Silent,Missense_R350C,Missense_R436C,Missense_R314C,Missense_R483C exm2123157 6 34008403 [A/G] NM_001256814,NM_001256810,NM_001256809,NR_046379,NM_001256813,NM_001256811,NM_001256812,NM_000841 GRM4,GRM4,GRM4,GRM4,GRM4,GRM4,GRM4,GRM4 EXON Missense_R291C,Missense_R123C,Missense_R315C,Silent,Missense_R298C,Missense_R384C,Missense_R262C,Missense_R431C exm539902 6 34008464 [G/C] NM_001256814,NM_001256810,NM_001256809,NR_046379,NM_001256813,NM_001256811,NM_001256812,NM_000841 GRM4,GRM4,GRM4,GRM4,GRM4,GRM4,GRM4,GRM4 EXON Missense_I270M,Missense_I102M,Missense_I294M,Silent,Missense_I277M,Missense_I363M,Missense_I241M,Missense_I410M exm539914 6 34026870 [A/G] NM_001256814,NM_001256810,NM_001256809,NR_046379,NM_001256813,NM_001256811,NM_001256812,NM_000841 GRM4,GRM4,GRM4,GRM4,GRM4,GRM4,GRM4,GRM4 EXON Missense_T163I,Silent,Missense_T234I,Silent,Missense_T170I,Missense_T303I,Missense_T134I,Missense_T303I exm539920 6 34029715 [A/G] NM_001256814,NM_001256810,NM_001256809,NR_046379,NM_001256813,NM_001256811,NM_001256812,NM_000841 GRM4,GRM4,GRM4,GRM4,GRM4,GRM4,GRM4,GRM4 EXON Missense_S136L,Silent,Missense_S207L,Silent,Missense_S143L,Missense_S276L,Missense_S107L,Missense_S276L exm539922 6 34029733 [T/C] NM_001256814,NM_001256810,NM_001256809,NR_046379,NM_001256813,NM_001256811,NM_001256812,NM_000841 GRM4,GRM4,GRM4,GRM4,GRM4,GRM4,GRM4,GRM4 EXON Missense_R130H,Silent,Missense_R201H,Silent,Missense_R137H,Missense_R270H,Missense_R101H,Missense_R270H exm539953 6 34101143 [T/C] NM_001256809,NR_046379,NM_001256811,NM_000841 GRM4,GRM4,GRM4,GRM4 EXON Silent,Silent,Missense_R44H,Missense_R44H exm-rs7742369 6 34165721 [A/G] exm-rs2780226 6 34199092 [T/C] exm539980 6 34214322 [G/C] NM_001008703,NM_001008704,NM_178508 C6orf1,C6orf1,C6orf1 EXON Missense_G150A,Missense_G150A,Missense_G150A exm539981 6 34214348 [T/C] NM_001008703,NM_001008704,NM_178508 C6orf1,C6orf1,C6orf1 EXON Missense_M141I,Missense_M141I,Missense_M141I exm539983 6 34214382 [T/C] NM_001008703,NM_001008704,NM_178508 C6orf1,C6orf1,C6orf1 EXON Missense_G130D,Missense_G130D,Missense_G130D exm539989 6 34214500 [T/G] NM_001008703,NM_001008704,NM_178508 C6orf1,C6orf1,C6orf1 EXON Missense_P91T,Missense_P91T,Missense_P91T exm2123182 6 34214514 [A/G] NM_001008703,NM_001008704,NM_178508 C6orf1,C6orf1,C6orf1 EXON Missense_L86P,Missense_L86P,Missense_L86P exm539992 6 34214524 [A/G] NM_001008703,NM_001008704,NM_178508 C6orf1,C6orf1,C6orf1 EXON Missense_C83R,Missense_C83R,Missense_C83R exm539995 6 34214539 [A/C] NM_001008703,NM_001008704,NM_178508 C6orf1,C6orf1,C6orf1 EXON Missense_D78Y,Missense_D78Y,Missense_D78Y exm539998 6 34214584 [A/G] NM_001008703,NM_001008704,NM_178508 C6orf1,C6orf1,C6orf1 EXON Missense_R63C,Missense_R63C,Missense_R63C exm540026 6 34256568 [T/A] NM_001202470,NM_006703 RPS10-NUDT3,NUDT3 EXON Missense_S280T,Missense_S161T exm-rs206936 6 34302869 [A/G] NM_001202470,NM_006703 RPS10-NUDT3,NUDT3 Silent,Silent exm540041 6 34360062 [T/G] NM_001202470,NM_006703 RPS10-NUDT3,NUDT3 EXON Silent,Missense_F26L exm2270307 6 34448315 [T/C] NM_020804 PACSIN1 Silent exm2123221 6 34495134 [A/G] NM_020804,NM_001199583 PACSIN1,PACSIN1 EXON Missense_K30R,Missense_K30R exm540085 6 34495239 [A/G] NM_020804,NM_001199583 PACSIN1,PACSIN1 EXON Missense_K65R,Missense_K65R exm540087 6 34496509 [A/G] NM_020804,NM_001199583 PACSIN1,PACSIN1 EXON Missense_N104S,Missense_N104S exm540116 6 34498328 [T/C] NM_020804,NM_001199583 PACSIN1,PACSIN1 EXON Missense_A334V,Missense_A334V exm540119 6 34499387 [T/C] NM_020804,NM_001199583 PACSIN1,PACSIN1 EXON Missense_Y350H,Missense_Y350H exm540122 6 34499476 [C/G] NM_020804,NM_001199583 PACSIN1,PACSIN1 EXON Missense_N379K,Missense_N379K exm540131 6 34506164 [T/C] NM_001252294,NM_012391 SPDEF,SPDEF EXON Missense_A283T,Missense_A299T exm540142 6 34507170 [A/G] NM_001252294,NM_012391 SPDEF,SPDEF EXON Missense_S213L,Missense_S229L exm540146 6 34507321 [T/C] NM_001252294,NM_012391 SPDEF,SPDEF EXON Silent,Missense_R218Q exm540153 6 34508821 [A/G] NM_001252294,NM_012391 SPDEF,SPDEF EXON Missense_R192C,Missense_R192C exm2123258 6 34508890 [A/G] NM_001252294,NM_012391 SPDEF,SPDEF EXON Missense_P169S,Missense_P169S exm540165 6 34511806 [T/C] NM_001252294,NM_012391 SPDEF,SPDEF EXON Missense_I143V,Missense_I143V exm540168 6 34511830 [T/C] NM_001252294,NM_012391 SPDEF,SPDEF EXON Missense_E135K,Missense_E135K exm540170 6 34511885 [A/C] NM_001252294,NM_012391 SPDEF,SPDEF EXON Missense_E116D,Missense_E116D exm2243972 6 34511910 [A/G] NM_001252294,NM_012391 SPDEF,SPDEF EXON Missense_V108A,Missense_V108A exm540181 6 34512001 [A/G] NM_001252294,NM_012391 SPDEF,SPDEF EXON Missense_P78S,Missense_P78S exm540182 6 34512004 [A/C] NM_001252294,NM_012391 SPDEF,SPDEF EXON Missense_A77S,Missense_A77S exm540186 6 34512064 [T/C] NM_001252294,NM_012391 SPDEF,SPDEF EXON Missense_A57T,Missense_A57T exm540187 6 34512088 [T/C] NM_001252294,NM_012391 SPDEF,SPDEF EXON Missense_A49T,Missense_A49T exm540195 6 34512153 [T/C] NM_001252294,NM_012391 SPDEF,SPDEF EXON Missense_G27D,Missense_G27D exm540200 6 34512195 [C/G] NM_001252294,NM_012391 SPDEF,SPDEF EXON Missense_P13R,Missense_P13R exm-rs2814982 6 34546560 [T/C] exm-rs2814944 6 34552797 [A/G] exm-rs2814993 6 34618893 [A/G] NM_022758,NM_024294 C6orf106,C6orf106 Silent,Silent exm2257778 6 34730395 [T/C] NR_029472,NM_003093 SNRPC,SNRPC EXON Silent,Synonymous_C25C exm540266 6 34735765 [A/C] NR_029472,NM_003093 SNRPC,SNRPC EXON Silent,Missense_P81T exm540297 6 34802110 [T/G] NM_017754 UHRF1BP1 EXON Missense_G152V exm2123312 6 34802160 [A/G] NM_017754 UHRF1BP1 EXON Missense_I169V exm540308 6 34803170 [A/G] NM_017754 UHRF1BP1 EXON Missense_A257T exm540310 6 34803204 [A/C] NM_017754 UHRF1BP1 EXON Missense_A268D exm540317 6 34804000 [A/G] NM_017754 UHRF1BP1 EXON Missense_S303N exm540323 6 34823474 [T/C] NM_017754 UHRF1BP1 EXON Missense_W372R exm2123326 6 34823477 [T/G] NM_017754 UHRF1BP1 EXON Missense_A373S exm540326 6 34824082 [A/G] NM_017754 UHRF1BP1 EXON Missense_K396R exm540327 6 34824107 [A/C] NM_017754 UHRF1BP1 EXON Missense_K404N exm540329 6 34824121 [A/G] NM_017754 UHRF1BP1 EXON Missense_H409R exm540333 6 34824585 [A/G] NM_017754 UHRF1BP1 EXON Missense_R437Q exm540335 6 34824636 [A/G] NM_017754 UHRF1BP1 EXON Missense_Q454R exm540336 6 34824648 [A/G] NM_017754 UHRF1BP1 EXON Nonsense_W458X exm540341 6 34825143 [T/C] NM_017754 UHRF1BP1 EXON Missense_T490I exm2123335 6 34825160 [T/C] NM_017754 UHRF1BP1 EXON Missense_R496W exm540344 6 34825182 [C/G] NM_017754 UHRF1BP1 EXON Missense_T503S exm2123341 6 34825664 [C/G] NM_017754 UHRF1BP1 EXON Missense_L579F exm540355 6 34825672 [A/G] NM_017754 UHRF1BP1 EXON Missense_R582Q exm540361 6 34826040 [A/G] NM_017754 UHRF1BP1 EXON Missense_R636Q exm540363 6 34826083 [A/C] NM_017754 UHRF1BP1 EXON Missense_H650Q exm540369 6 34826249 [C/G] NM_017754 UHRF1BP1 EXON Missense_E706Q exm540370 6 34826292 [T/C] NM_017754 UHRF1BP1 EXON Missense_A720V exm2123348 6 34826352 [A/G] NM_017754 UHRF1BP1 EXON Missense_R740Q exm540379 6 34826594 [T/C] NM_017754 UHRF1BP1 EXON Missense_H821Y exm2123350 6 34826601 [T/C] NM_017754 UHRF1BP1 EXON Missense_P823L exm540382 6 34826612 [T/C] NM_017754 UHRF1BP1 EXON Missense_R827C exm2123351 6 34826672 [A/G] NM_017754 UHRF1BP1 EXON Missense_R847G exm540386 6 34826678 [A/C] NM_017754 UHRF1BP1 EXON Missense_Q849K exm2243978 6 34826693 [A/G] NM_017754 UHRF1BP1 EXON Missense_K854E exm540400 6 34826921 [G/C] NM_017754 UHRF1BP1 EXON Missense_E930Q exm540405 6 34827036 [A/G] NM_017754 UHRF1BP1 EXON Missense_G968D exm540409 6 34827086 [A/G] NM_017754 UHRF1BP1 EXON Missense_A985T exm540415 6 34827168 [A/G] NM_017754 UHRF1BP1 EXON Missense_K1012R exm540417 6 34827203 [A/G] NM_017754 UHRF1BP1 EXON Missense_M1024V exm540418 6 34827242 [A/G] NM_017754 UHRF1BP1 EXON Missense_M1037V exm540421 6 34827318 [T/G] NM_017754 UHRF1BP1 EXON Missense_M1062R exm2123357 6 34831787 [T/C] NM_017754 UHRF1BP1 EXON Missense_M1075T exm540425 6 34831856 [T/C] NM_017754 UHRF1BP1 EXON Missense_M1098T exm540430 6 34835154 [T/C] NM_017754 UHRF1BP1 EXON Missense_P1189S exm540431 6 34835243 [T/G] NM_017754 UHRF1BP1 EXON Missense_V1190F exm540436 6 34835392 [A/G] NM_017754 UHRF1BP1 EXON Synonymous_P1239P exm540441 6 34838693 [T/C] NM_017754 UHRF1BP1 EXON Missense_R1261C exm540442 6 34838694 [A/G] NM_017754 UHRF1BP1 EXON Missense_R1261H exm540447 6 34838841 [T/C] NM_017754 UHRF1BP1 EXON Missense_P1310L exm540454 6 34839431 [A/T] NM_017754 UHRF1BP1 EXON Missense_V1351E exm540456 6 34839463 [A/G] NM_017754 UHRF1BP1 EXON Missense_I1362V exm540458 6 34839644 [A/G] NM_017754 UHRF1BP1 EXON Missense_R1380K exm540460 6 34839687 [C/G] NM_017754 UHRF1BP1 EXON Missense_E1394D exm-rs4646949 6 34845449 [T/G] exm540473 6 34847785 [A/G] NM_001270488,NM_005643 TAF11,TAF11 EXON Silent,Missense_S155F exm540479 6 34850826 [G/C] NM_001270488,NM_005643 TAF11,TAF11 EXON Missense_T68R,Missense_T68R exm540482 6 34855591 [C/G] NM_001270488,NM_005643 TAF11,TAF11 EXON Missense_L48F,Missense_L48F exm540487 6 34855731 [C/G] NM_001270488,NM_005643 TAF11,TAF11 EXON Missense_D2H,Missense_D2H exm-rs12205331 6 34898455 [T/C] NM_015245 ANKS1A Silent exm540505 6 34949644 [T/C] NM_015245 ANKS1A EXON Missense_H205Y exm2123404 6 34950898 [A/G] NM_015245 ANKS1A EXON Missense_V273I exm540512 6 34950972 [A/C] NM_015245 ANKS1A EXON Missense_Q297H exm2243981 6 34951151 [A/C] NM_015245 ANKS1A EXON Missense_P321T exm2243982 6 34951161 [A/C] NM_015245 ANKS1A EXON Missense_P324H exm540517 6 34952873 [A/G] NM_015245 ANKS1A EXON Missense_A343T exm540520 6 34952910 [A/C] NM_015245 ANKS1A EXON Missense_A355D exm2243983 6 34952980 [A/C] NM_015245 ANKS1A EXON Missense_S378R exm540529 6 34957037 [A/G] NM_015245 ANKS1A EXON Missense_D416N exm540531 6 34962163 [A/G] NM_015245 ANKS1A EXON Missense_T463A exm540533 6 34962193 [A/G] NM_015245 ANKS1A EXON Missense_T473A exm-rs2140418 6 34975415 [T/C] NM_015245 ANKS1A Silent exm540540 6 34985303 [A/G] NM_015245 ANKS1A EXON Missense_G493R exm2257779 6 34985311 [A/C] NM_015245 ANKS1A EXON Synonymous_V495V exm540550 6 34985474 [T/C] NM_015245 ANKS1A EXON Missense_H550Y exm540556 6 34985558 [C/G] NM_015245 ANKS1A EXON Missense_R578G exm540562 6 34985625 [A/G] NM_015245 ANKS1A EXON Missense_R600Q exm2270308 6 35024695 [T/C] NM_015245 ANKS1A Silent exm540574 6 35027927 [T/C] NM_015245 ANKS1A EXON Missense_L694S exm540575 6 35027963 [A/G] NM_015245 ANKS1A EXON Missense_E706G exm540581 6 35046396 [A/G] NM_015245 ANKS1A EXON Missense_R749Q exm540591 6 35047371 [A/G] NM_015245 ANKS1A EXON Missense_V788I exm540616 6 35048913 [A/G] NM_015245 ANKS1A EXON Missense_R896Q exm540617 6 35048922 [A/G] NM_015245 ANKS1A EXON Missense_R899H exm540623 6 35050531 [T/G] NM_015245 ANKS1A EXON Missense_V925L exm540625 6 35050593 [T/C] NM_015245 ANKS1A EXON Synonymous_N945N exm540628 6 35050952 [G/C] NM_015245 ANKS1A EXON Missense_I952M exm540636 6 35052027 [A/G] NM_015245 ANKS1A EXON Missense_V1042M exm2257781 6 35053569 [A/G] NM_015245 ANKS1A EXON Synonymous_T1053T exm540649 6 35053699 [A/G] NM_015245 ANKS1A EXON Missense_V1097M exm540651 6 35054745 [T/C] NM_015245 ANKS1A EXON Missense_M1107T exm540664 6 35086272 [T/C] NM_001261819,NM_001261821,NM_001261818,NM_001093728,NM_018679,NM_001261817,NM_001261820 TCP11,TCP11,TCP11,TCP11,TCP11,TCP11,TCP11 EXON Missense_R391Q,Missense_R366Q,Missense_R396Q,Missense_R442Q,Missense_R367Q,Missense_R437Q,Missense_R366Q exm540665 6 35086275 [T/C] NM_001261819,NM_001261821,NM_001261818,NM_001093728,NM_018679,NM_001261817,NM_001261820 TCP11,TCP11,TCP11,TCP11,TCP11,TCP11,TCP11 EXON Missense_Q390R,Missense_Q365R,Missense_Q395R,Missense_Q441R,Missense_Q366R,Missense_Q436R,Missense_Q365R exm2275877 6 35088018 [G/C] NM_001261819,NM_001261821,NM_001261818,NM_001093728,NM_018679,NM_001261817,NM_001261820 TCP11,TCP11,TCP11,TCP11,TCP11,TCP11,TCP11 EXON Missense_G307R,Missense_G282R,Missense_G312R,Missense_G358R,Missense_G283R,Missense_G353R,Missense_G282R exm540679 6 35088271 [T/C] NM_001261819,NM_001261821,NM_001261818,NM_001093728,NM_018679,NM_001261817,NM_001261820 TCP11,TCP11,TCP11,TCP11,TCP11,TCP11,TCP11 EXON Missense_M252V,Missense_M227V,Missense_M257V,Missense_M303V,Missense_M228V,Missense_M298V,Missense_M227V exm540681 6 35088381 [C/G] NM_001261819,NM_001261821,NM_001261818,NM_001093728,NM_018679,NM_001261817,NM_001261820 TCP11,TCP11,TCP11,TCP11,TCP11,TCP11,TCP11 EXON Missense_G215A,Missense_G190A,Missense_G220A,Missense_G266A,Missense_G191A,Missense_G261A,Missense_G190A exm540692 6 35089999 [T/C] NM_001261819,NM_001261821,NM_001261818,NM_001093728,NM_018679,NM_001261817,NM_001261820 TCP11,TCP11,TCP11,TCP11,TCP11,TCP11,TCP11 EXON Missense_Y120C,Missense_Y95C,Missense_Y125C,Missense_Y171C,Missense_Y96C,Missense_Y166C,Missense_Y95C exm2123501 6 35090090 [A/G] NM_001261819,NM_001261821,NM_001261818,NM_001093728,NM_018679,NM_001261817,NM_001261820 TCP11,TCP11,TCP11,TCP11,TCP11,TCP11,TCP11 EXON Missense_R90C,Missense_R65C,Missense_R95C,Missense_R141C,Missense_R66C,Missense_R136C,Missense_R65C exm540703 6 35096933 [A/G] NM_001261819,NM_001261821,NM_001261818,NM_001093728,NM_018679,NM_001261817,NM_001261820 TCP11,TCP11,TCP11,TCP11,TCP11,TCP11,TCP11 EXON Missense_V50A,Missense_V25A,Missense_V55A,Missense_V101A,Missense_V26A,Missense_V96A,Missense_V25A exm540704 6 35103893 [C/G] NM_001261819,NM_001261821,NM_001261818,NM_001093728,NM_018679,NM_001261817,NM_001261820 TCP11,TCP11,TCP11,TCP11,TCP11,TCP11,TCP11 EXON Missense_P38R,Missense_P13R,Missense_P43R,Missense_P89R,Silent,Missense_P84R,Missense_P13R exm540705 6 35103950 [T/C] NM_001261819,NM_001261821,NM_001261818,NM_001093728,NM_018679,NM_001261817,NM_001261820 TCP11,TCP11,TCP11,TCP11,TCP11,TCP11,TCP11 EXON Missense_K19R,Silent,Missense_K24R,Missense_K70R,Silent,Missense_K65R,Silent exm540707 6 35103966 [T/C] NM_001261819,NM_001261821,NM_001261818,NM_001093728,NM_018679,NM_001261817,NM_001261820 TCP11,TCP11,TCP11,TCP11,TCP11,TCP11,TCP11 EXON Missense_V14I,Silent,Missense_V19I,Missense_V65I,Silent,Missense_V60I,Silent exm540720 6 35108553 [T/G] NM_001261819,NM_001261821,NM_001261818,NM_001093728,NM_018679,NM_001261817,NM_001261820 TCP11,TCP11,TCP11,TCP11,TCP11,TCP11,TCP11 EXON Silent,Silent,Silent,Missense_D45A,Silent,Missense_D45A,Silent exm540724 6 35108589 [A/G] NM_001261819,NM_001261821,NM_001261818,NM_001093728,NM_018679,NM_001261817,NM_001261820 TCP11,TCP11,TCP11,TCP11,TCP11,TCP11,TCP11 EXON Silent,Silent,Silent,Missense_S33F,Silent,Missense_S33F,Silent exm2264198 6 35117399 [A/C] exm540764 6 35201057 [A/G] NM_152753 SCUBE3 EXON Missense_T231A exm540769 6 35207543 [T/C] NM_152753 SCUBE3 EXON Missense_R282C exm540771 6 35207648 [G/C] NM_152753 SCUBE3 EXON Missense_Q317E exm540774 6 35208222 [T/C] NM_152753 SCUBE3 EXON Missense_L342F exm540781 6 35208974 [T/C] NM_152753 SCUBE3 EXON Missense_P376S exm540783 6 35209017 [T/C] NM_152753 SCUBE3 EXON Missense_L390P exm540787 6 35209353 [T/C] NM_152753 SCUBE3 EXON Missense_S410L exm540788 6 35209425 [A/G] NM_152753 SCUBE3 EXON Missense_R434Q exm540800 6 35210077 [A/C] NM_152753 SCUBE3 EXON Missense_A505D exm540804 6 35210459 [A/G] NM_152753 SCUBE3 EXON Missense_R532Q exm540805 6 35210476 [T/C] NM_152753 SCUBE3 EXON Missense_R538W exm540809 6 35210839 [T/C] NM_152753 SCUBE3 EXON Missense_R579W exm540816 6 35210900 [A/G] NM_152753 SCUBE3 EXON Missense_R599H exm540821 6 35210957 [A/G] NM_152753 SCUBE3 EXON Missense_R618Q exm540824 6 35210998 [A/G] NM_152753 SCUBE3 EXON Missense_A632T exm540827 6 35211427 [T/C] NM_152753 SCUBE3 EXON Missense_P656S exm2123541 6 35211496 [A/G] NM_152753 SCUBE3 EXON Missense_G679R exm540835 6 35211827 [A/G] NM_152753 SCUBE3 EXON Missense_R720Q exm540842 6 35212504 [A/G] NM_152753 SCUBE3 EXON Missense_D773N exm540849 6 35213008 [A/G] NM_152753 SCUBE3 EXON Missense_R802H exm540857 6 35213837 [A/G] NM_152753 SCUBE3 EXON Missense_A906T exm540858 6 35213840 [T/C] NM_152753 SCUBE3 EXON Missense_R907C exm540862 6 35214051 [A/G] NM_152753 SCUBE3 EXON Missense_E941K exm540868 6 35248983 [A/G] NM_003427 ZNF76 EXON Missense_V19I exm540873 6 35253974 [T/C] NM_003427 ZNF76 EXON Missense_T48M exm540888 6 35255546 [T/C] NM_003427 ZNF76 EXON Missense_L119S exm540889 6 35255567 [T/A] NM_003427 ZNF76 EXON Missense_D126V exm540890 6 35255590 [A/G] NM_003427 ZNF76 EXON Missense_A134T exm540893 6 35255613 [T/G] NM_003427 ZNF76 EXON Nonsense_Y141X exm540903 6 35258107 [A/G] NM_003427 ZNF76 EXON Missense_R166H exm2123570 6 35258465 [A/C] NM_003427 ZNF76 EXON Missense_F199L exm540926 6 35259365 [A/G] NM_003427 ZNF76 EXON Missense_G261D exm540928 6 35259397 [T/C] NM_003427 ZNF76 EXON Missense_R272C exm540934 6 35259478 [A/G] NM_003427 ZNF76 EXON Missense_A299T exm540938 6 35260345 [A/G] NM_003427 ZNF76 EXON Missense_V316I exm540939 6 35260352 [T/C] NM_003427 ZNF76 EXON Missense_T318M exm540944 6 35260408 [A/G] NM_003427 ZNF76 EXON Missense_V337M exm540956 6 35260700 [A/G] NM_003427 ZNF76 EXON Missense_R403Q exm540958 6 35260720 [A/G] NM_003427 ZNF76 EXON Missense_V410M exm540975 6 35261643 [T/G] NM_003427 ZNF76 EXON Missense_G482V exm540977 6 35261673 [T/A] NM_003427 ZNF76 EXON Missense_D492V exm540980 6 35261693 [A/G] NM_003427 ZNF76 Silent exm540986 6 35262239 [A/G] NM_003427 ZNF76 EXON Missense_I501V exm540990 6 35262327 [A/G] NM_003427 ZNF76 EXON Missense_G530E exm540997 6 35262984 [G/C] NM_003427 ZNF76 EXON Missense_A558P exm540999 6 35263009 [T/C] NM_003427 ZNF76 EXON Missense_S566L exm541014 6 35278309 [C/G] NM_022047 DEF6 EXON Missense_R104P exm541027 6 35280244 [A/G] NM_022047 DEF6 EXON Missense_V197M exm541035 6 35285719 [A/C] NM_022047 DEF6 EXON Missense_N287H exm541036 6 35285720 [A/C] NM_022047 DEF6 EXON Missense_N287T exm541039 6 35285959 [T/C] NM_022047 DEF6 EXON Missense_M309T exm2243992 6 35287414 [A/T] NM_022047 DEF6 EXON Missense_Q443H exm541065 6 35289024 [A/G] NM_022047 DEF6 EXON Missense_R578H exm541071 6 35289138 [T/C] NM_022047 DEF6 EXON Missense_P616L exm541073 6 35289153 [A/C] NM_022047 DEF6 EXON Missense_Q621P exm541087 6 35387912 [T/C] NM_177435,NM_001171818,NM_006238,NM_001171819,NM_001171820 PPARD,PPARD,PPARD,PPARD,PPARD EXON Missense_R47W,Missense_R47W,Missense_R47W,Missense_R8W,Silent exm2257782 6 35392369 [T/C] NM_177435,NM_001171818,NM_006238,NM_001171819,NM_001171820 PPARD,PPARD,PPARD,PPARD,PPARD EXON Synonymous_I297I,Synonymous_I297I,Synonymous_I297I,Synonymous_I258I,Synonymous_I199I exm541123 6 35393656 [A/T] NM_001171818,NM_006238,NM_001171819,NM_001171820 PPARD,PPARD,PPARD,PPARD EXON Missense_T376S,Missense_T376S,Missense_T337S,Missense_T278S exm-rs4713858 6 35402785 [A/G] exm-rs6457821 6 35402805 [A/C] exm2266180 6 35411091 [A/G] exm541137 6 35423528 [T/C] NM_021922 FANCE EXON Missense_P85S exm541138 6 35423541 [T/G] NM_021922 FANCE EXON Missense_R89L exm541139 6 35423559 [A/G] NM_021922 FANCE EXON Missense_Q95R exm2243996 6 35423672 [T/C] NM_021922 FANCE EXON Missense_L133F exm541158 6 35423874 [A/G] NM_021922 FANCE EXON Missense_R200H exm541160 6 35423886 [T/C] NM_021922 FANCE EXON Missense_S204L exm2123632 6 35425721 [A/C] NM_021922 FANCE EXON Missense_P310Q exm541183 6 35426122 [G/C] NM_021922 FANCE EXON Missense_G340R exm2243998 6 35426132 [A/G] NM_021922 FANCE EXON Missense_R343Q exm541186 6 35426199 [A/C] NM_021922 FANCE EXON Missense_R365S exm541192 6 35427531 [T/C] NM_021922 FANCE EXON Missense_M437T exm541194 6 35428345 [T/C] NM_021922 FANCE EXON Missense_P445S exm541201 6 35430686 [A/G] NM_021922 FANCE EXON Missense_A502T exm2123649 6 35430691 [T/C] NM_021922 FANCE EXON Synonymous_N503N exm541236 6 35438387 [A/G] NM_007104 RPL10A EXON Missense_V172M exm2266301 6 35442397 [A/G] NM_003214 TEAD3 EXON Silent exm2244002 6 35442921 [T/C] NM_003214 TEAD3 EXON Missense_R403Q exm541261 6 35443826 [A/G] NM_003214 TEAD3 EXON Missense_A257V exm541262 6 35443835 [A/G] NM_003214 TEAD3 EXON Missense_T254M exm541265 6 35444083 [A/T] NM_003214 TEAD3 EXON Missense_D241V exm2123689 6 35444152 [T/C] NM_003214 TEAD3 EXON Missense_R218H exm541290 6 35454343 [T/C] NM_003214 TEAD3 EXON Missense_G33S exm541301 6 35467758 [A/G] NM_003322 TULP1 EXON Missense_P499S exm541303 6 35467767 [T/C] NM_003322 TULP1 EXON Missense_A496T exm541309 6 35467877 [A/G] NM_003322 TULP1 EXON Missense_I459T exm2257783 6 35467891 [T/C] NM_003322 TULP1 EXON Synonymous_T454T exm541313 6 35467920 [T/C] NM_003322 TULP1 EXON Missense_G445S exm541317 6 35471362 [T/C] NM_003322 TULP1 EXON Missense_E433K exm541326 6 35471605 [T/C] NM_003322 TULP1 EXON Missense_R378H exm541347 6 35477011 [A/C] NM_003322 TULP1 EXON Missense_G266V exm541348 6 35477025 [G/C] NM_003322 TULP1 EXON Missense_K261N exm541349 6 35477032 [A/G] NM_003322 TULP1 EXON Missense_I259T exm541353 6 35477415 [C/G] NM_003322 TULP1 EXON Missense_K238N exm541359 6 35477510 [T/C] NM_003322 TULP1 EXON Missense_K207E exm541363 6 35477526 [T/C] NM_003322 TULP1 EXON Synonymous_G201G exm541364 6 35477630 [A/G] NM_003322 TULP1 EXON Missense_T192I exm541365 6 35477661 [T/C] NM_003322 TULP1 EXON Missense_R182G exm541366 6 35477666 [T/C] NM_003322 TULP1 EXON Missense_R180H exm541382 6 35478710 [G/C] NM_003322 TULP1 EXON Missense_P143A exm541384 6 35478755 [T/C] NM_003322 TULP1 EXON Missense_E128K exm541388 6 35478771 [A/C] NM_003322 TULP1 EXON Missense_E122D exm541393 6 35479478 [T/C] NM_003322 TULP1 EXON Missense_K99R exm541395 6 35479574 [G/C] NM_003322 TULP1 EXON Missense_T67R exm541397 6 35480010 [A/G] NM_003322 TULP1 EXON Missense_T46M exm541419 6 35544889 [A/T] NM_001145775,NM_001145776,NM_004117 FKBP5,FKBP5,FKBP5 EXON Missense_Q383L,Missense_Q383L,Missense_Q383L exm541434 6 35554808 [T/C] NM_001145775,NM_001145776,NM_004117,NM_001145777 FKBP5,FKBP5,FKBP5,FKBP5 EXON Silent,Silent,Silent,Missense_C251Y exm541439 6 35565058 [T/C] NM_001145775,NM_001145776,NM_004117,NM_001145777 FKBP5,FKBP5,FKBP5,FKBP5 EXON Missense_R211Q,Missense_R211Q,Missense_R211Q,Missense_R211Q exm541446 6 35586920 [T/C] NM_001145775,NM_001145776,NM_004117,NM_001145777 FKBP5,FKBP5,FKBP5,FKBP5 EXON Missense_R154Q,Missense_R154Q,Missense_R154Q,Missense_R154Q exm541456 6 35604901 [A/G] NM_001145775,NM_001145776,NM_004117,NM_001145777 FKBP5,FKBP5,FKBP5,FKBP5 EXON Missense_P47L,Missense_P47L,Missense_P47L,Missense_P47L exm541458 6 35604934 [A/G] NM_001145775,NM_001145776,NM_004117,NM_001145777 FKBP5,FKBP5,FKBP5,FKBP5 EXON Missense_I36T,Missense_I36T,Missense_I36T,Missense_I36T exm2274146 6 35610538 [T/C] NM_001145775,NM_001145776,NM_004117,NM_001145777 FKBP5,FKBP5,FKBP5,FKBP5 EXON Missense_G22R,Missense_G22R,Missense_G22R,Missense_G22R exm541461 6 35610553 [T/C] NM_001145775,NM_001145776,NM_004117,NM_001145777 FKBP5,FKBP5,FKBP5,FKBP5 EXON Missense_T17A,Missense_T17A,Missense_T17A,Missense_T17A exm541468 6 35704928 [T/C] NM_145028 ARMC12 EXON Missense_R15C exm541471 6 35704964 [A/G] NM_145028 ARMC12 EXON Missense_A27T exm541482 6 35705818 [T/C] NM_145028 ARMC12 EXON Nonsense_R87X exm541485 6 35705834 [A/G] NM_145028 ARMC12 EXON Missense_R92Q exm541490 6 35705878 [A/G] NM_145028 ARMC12 EXON Missense_K107E exm541492 6 35705894 [A/C] NM_145028 ARMC12 EXON Missense_A112D exm541501 6 35715051 [T/A] NM_145028 ARMC12 EXON Missense_K180I exm541505 6 35715082 [A/C] NM_145028 ARMC12 EXON Missense_D190E exm541514 6 35715164 [A/G] NM_145028 ARMC12 EXON Missense_M218V exm541518 6 35715362 [A/G] NM_145028 ARMC12 EXON Missense_V237I exm2123774 6 35715420 [A/G] NM_145028 ARMC12 EXON Missense_C256Y exm541521 6 35716319 [A/C] NM_145028 ARMC12 EXON Missense_H259P exm541528 6 35716414 [A/G] NM_145028 ARMC12 EXON Missense_A291T exm541532 6 35716450 [A/G] NM_145028 ARMC12 EXON Missense_E303K exm541537 6 35716613 [A/G] NM_145028 ARMC12 EXON Missense_Q357R exm2123779 6 35716618 [A/G] NM_145028 ARMC12 EXON Missense_S359G exm2123780 6 35745297 [T/G] NM_207409 CLPSL2 EXON Missense_L49W exm541546 6 35745305 [A/G] NM_207409 CLPSL2 EXON Missense_G52S exm541554 6 35747165 [T/C] NM_207409 CLPSL2 EXON Missense_R81W exm541562 6 35748931 [T/C] NM_001010886 CLPSL1 EXON Missense_F15S exm541564 6 35748955 [A/G] NM_001010886 CLPSL1 EXON Missense_G23D exm541570 6 35754822 [G/C] NM_001010886 CLPSL1 EXON Missense_C49W exm541580 6 35755680 [T/C] NM_001010886 CLPSL1 EXON Missense_R87W exm541589 6 35762937 [A/G] NM_001252597,NM_001832,NM_001252598 CLPS,CLPS,CLPS EXON Missense_R95C,Missense_R109C,Missense_R68C exm541590 6 35762985 [T/C] NM_001252597,NM_001832,NM_001252598 CLPS,CLPS,CLPS EXON Missense_V79M,Missense_V93M,Missense_V52M exm541591 6 35763017 [T/C] NM_001252597,NM_001832,NM_001252598 CLPS,CLPS,CLPS EXON Missense_R68H,Missense_R82H,Missense_R41H exm541599 6 35763551 [T/C] NM_001252597,NM_001832,NM_001252598 CLPS,CLPS,CLPS EXON Missense_R41H,Missense_R55H,Silent exm541607 6 35765001 [T/C] NM_001252597,NM_001832,NM_001252598 CLPS,CLPS,CLPS EXON Silent,Missense_R22Q,Missense_R22Q exm541611 6 35765043 [A/G] NM_001252597,NM_001832,NM_001252598 CLPS,CLPS,CLPS EXON Silent,Missense_L8P,Missense_L8P exm541618 6 35773490 [T/C] NM_182548 LHFPL5 EXON Missense_H15Y exm541619 6 35773506 [A/G] NM_182548 LHFPL5 EXON Missense_R20Q exm541621 6 35773574 [T/C] NM_182548 LHFPL5 EXON Missense_L43F exm2123810 6 35773782 [T/C] NM_182548 LHFPL5 EXON Missense_I112T exm541635 6 35782386 [A/G] NM_182548 LHFPL5 EXON Missense_R159H exm541646 6 35782525 [C/G] NM_182548 LHFPL5 EXON Missense_K205N exm541653 6 35803103 [T/C] NM_003137,NR_034069 SRPK1,SRPK1 EXON Missense_R649Q,Silent exm541654 6 35803104 [A/G] NM_003137,NR_034069 SRPK1,SRPK1 EXON Missense_R649W,Silent exm541673 6 35825141 [T/C] NM_003137,NR_034069 SRPK1,SRPK1 EXON Missense_K506R,Silent exm541674 6 35836843 [T/C] NM_003137,NR_034069 SRPK1,SRPK1 EXON Missense_K486E,Silent exm541678 6 35837283 [C/G] NM_003137,NR_034069 SRPK1,SRPK1 EXON Missense_H463D,Silent exm541681 6 35837421 [T/C] NM_003137,NR_034069 SRPK1,SRPK1 EXON Missense_I417V,Silent exm541686 6 35837547 [T/C] NM_003137,NR_034069 SRPK1,SRPK1 EXON Missense_R375G,Silent exm541690 6 35838160 [T/C] NM_003137,NR_034069 SRPK1,SRPK1 EXON Missense_G297S,Silent exm541694 6 35840349 [T/C] NM_003137,NR_034069 SRPK1,SRPK1 EXON Missense_G248R,Silent exm541697 6 35842114 [T/C] NM_003137,NR_034069 SRPK1,SRPK1 EXON Missense_I161V,Silent exm541698 6 35854500 [T/C] NM_003137,NR_034069 SRPK1,SRPK1 Silent,Silent exm541715 6 35911696 [T/C] NM_138718,NM_052961,NM_001193476 SLC26A8,SLC26A8,SLC26A8 EXON Missense_N860S,Missense_N965S,Missense_N965S exm541719 6 35911754 [A/G] NM_138718,NM_052961,NM_001193476 SLC26A8,SLC26A8,SLC26A8 EXON Missense_R841W,Missense_R946W,Missense_R946W exm541723 6 35911783 [T/A] NM_138718,NM_052961,NM_001193476 SLC26A8,SLC26A8,SLC26A8 EXON Missense_M831K,Missense_M936K,Missense_M936K exm541724 6 35911789 [A/G] NM_138718,NM_052961,NM_001193476 SLC26A8,SLC26A8,SLC26A8 EXON Missense_P829L,Missense_P934L,Missense_P934L exm541727 6 35911856 [A/G] NM_138718,NM_052961,NM_001193476 SLC26A8,SLC26A8,SLC26A8 EXON Missense_P807S,Missense_P912S,Missense_P912S exm541744 6 35918965 [T/C] NM_138718,NM_052961,NM_001193476 SLC26A8,SLC26A8,SLC26A8 EXON Missense_R711Q,Missense_R816Q,Missense_R816Q exm541746 6 35918978 [T/C] NM_138718,NM_052961,NM_001193476 SLC26A8,SLC26A8,SLC26A8 EXON Missense_E707K,Missense_E812K,Missense_E812K exm541748 6 35918987 [T/C] NM_138718,NM_052961,NM_001193476 SLC26A8,SLC26A8,SLC26A8 EXON Missense_D704N,Missense_D809N,Missense_D809N exm541772 6 35923086 [T/A] NM_138718,NM_052961,NM_001193476 SLC26A8,SLC26A8,SLC26A8 EXON Missense_N587I,Missense_N692I,Missense_N692I exm541776 6 35923138 [A/G] NM_138718,NM_052961,NM_001193476 SLC26A8,SLC26A8,SLC26A8 EXON Nonsense_Q570X,Nonsense_Q675X,Nonsense_Q675X exm541783 6 35923246 [T/C] NM_138718,NM_052961,NM_001193476 SLC26A8,SLC26A8,SLC26A8 EXON Missense_I534V,Missense_I639V,Missense_I639V exm541784 6 35923258 [T/C] NM_138718,NM_052961,NM_001193476 SLC26A8,SLC26A8,SLC26A8 EXON Missense_E530K,Missense_E635K,Missense_E635K exm541787 6 35927247 [A/G] NM_138718,NM_052961,NM_001193476 SLC26A8,SLC26A8,SLC26A8 EXON Missense_P513L,Missense_P618L,Missense_P618L exm541790 6 35927367 [A/G] NM_138718,NM_052961,NM_001193476 SLC26A8,SLC26A8,SLC26A8 EXON Missense_V473A,Missense_V578A,Missense_V578A exm541795 6 35928624 [T/C] NM_138718,NM_052961,NM_001193476 SLC26A8,SLC26A8,SLC26A8 EXON Missense_R440Q,Missense_R545Q,Missense_R545Q exm541797 6 35928633 [T/C] NM_138718,NM_052961,NM_001193476 SLC26A8,SLC26A8,SLC26A8 EXON Missense_N437S,Missense_N542S,Missense_N542S exm541799 6 35928846 [T/C] NM_138718,NM_052961,NM_001193476 SLC26A8,SLC26A8,SLC26A8 EXON Missense_I393V,Missense_I498V,Missense_I498V exm541804 6 35930374 [T/G] NM_138718,NM_052961,NM_001193476 SLC26A8,SLC26A8,SLC26A8 EXON Missense_S359R,Missense_S464R,Missense_S464R exm541820 6 35959504 [A/G] NM_138718,NM_052961,NM_001193476 SLC26A8,SLC26A8,SLC26A8 EXON Silent,Nonsense_R292X,Nonsense_R292X exm541821 6 35959510 [A/C] NM_138718,NM_052961,NM_001193476 SLC26A8,SLC26A8,SLC26A8 EXON Silent,Missense_A290S,Missense_A290S exm541822 6 35959564 [G/C] NM_138718,NM_052961,NM_001193476 SLC26A8,SLC26A8,SLC26A8 EXON Silent,Missense_A272P,Missense_A272P exm541824 6 35960390 [T/C] NM_138718,NM_052961,NM_001193476 SLC26A8,SLC26A8,SLC26A8 EXON Silent,Missense_S230N,Missense_S230N exm541826 6 35960411 [T/C] NM_138718,NM_052961,NM_001193476 SLC26A8,SLC26A8,SLC26A8 EXON Silent,Missense_Y223C,Missense_Y223C exm541837 6 35967772 [T/C] NM_138718,NM_052961,NM_001193476 SLC26A8,SLC26A8,SLC26A8 EXON Missense_I148V,Missense_I148V,Missense_I148V exm541844 6 35980078 [T/C] NM_138718,NM_052961,NM_001193476 SLC26A8,SLC26A8,SLC26A8 EXON Missense_R87Q,Missense_R87Q,Missense_R87Q exm541846 6 35980121 [T/C] NM_138718,NM_052961,NM_001193476 SLC26A8,SLC26A8,SLC26A8 EXON Missense_V73M,Missense_V73M,Missense_V73M exm541847 6 35980134 [A/C] NM_138718,NM_052961,NM_001193476 SLC26A8,SLC26A8,SLC26A8 EXON Missense_R68S,Missense_R68S,Missense_R68S exm541880 6 36063793 [T/C] NM_139013,NM_001315,NM_139012,NM_139014 MAPK14,MAPK14,MAPK14,MAPK14 EXON Missense_L238F,Silent,Missense_L238F,Missense_L238F exm541892 6 36075326 [T/C] NM_001315,NM_139012,NM_139014 MAPK14,MAPK14,MAPK14 EXON Synonymous_H312H,Synonymous_H312H,Missense_T286M exm541896 6 36076169 [A/G] NM_001315,NM_139012,NM_139014 MAPK14,MAPK14,MAPK14 EXON Missense_D343G,Missense_D343G,Silent exm2270309 6 36094188 [T/G] exm541905 6 36098434 [A/C] NM_002754,NR_072996 MAPK13,MAPK13 EXON Nonsense_Y25X,Silent exm541910 6 36099050 [T/C] NM_002754,NR_072996 MAPK13,MAPK13 EXON Missense_S41L,Silent exm541914 6 36099165 [T/G] NM_002754,NR_072996 MAPK13,MAPK13 EXON Missense_M79I,Silent exm541943 6 36104726 [T/C] NM_002754,NR_072996 MAPK13,MAPK13 EXON Synonymous_D227D,Silent exm541947 6 36106190 [T/C] NM_002754,NR_072996 MAPK13,MAPK13 EXON Missense_T244M,Silent exm541954 6 36106657 [T/G] NM_002754,NR_072996 MAPK13,MAPK13 EXON Synonymous_A281A,Silent exm541955 6 36106659 [T/C] NM_002754,NR_072996 MAPK13,MAPK13 EXON Missense_A282V,Silent exm541969 6 36107113 [A/G] NM_002754,NR_072996 MAPK13,MAPK13 EXON Missense_R354Q,Silent exm541973 6 36107131 [A/G] NM_002754,NR_072996 MAPK13,MAPK13 EXON Missense_R360Q,Silent exm2123958 6 36168072 [A/G] NM_015695 BRPF3 Silent exm541995 6 36168415 [T/C] NM_015695 BRPF3 EXON Missense_H106Y exm542001 6 36168628 [A/G] NM_015695 BRPF3 EXON Missense_S177G exm542012 6 36168835 [A/G] NM_015695 BRPF3 EXON Missense_V246I exm542028 6 36169220 [T/C] NM_015695 BRPF3 EXON Missense_I374T exm542037 6 36169444 [A/C] NM_015695 BRPF3 EXON Missense_K449Q exm542050 6 36177636 [G/C] NM_015695 BRPF3 EXON Missense_L604V exm542060 6 36178254 [G/C] NM_015695 BRPF3 EXON Missense_L710V exm542074 6 36181663 [T/C] NM_015695 BRPF3 EXON Missense_S830F exm542081 6 36181882 [A/G] NM_015695 BRPF3 EXON Missense_G903D exm542096 6 36182091 [T/C] NM_015695 BRPF3 EXON Missense_R973W exm542105 6 36185759 [A/G] NM_015695 BRPF3 EXON Missense_S1019G exm2124002 6 36193073 [T/C] NM_015695 BRPF3 EXON Missense_R1071C exm542117 6 36193085 [A/G] NM_015695 BRPF3 EXON Missense_E1075K exm2273418 6 36198577 [G/C] NM_015695 BRPF3 EXON Silent exm542145 6 36259274 [T/C] NM_173676,NM_001145716,NM_001145717 PNPLA1,PNPLA1,PNPLA1 EXON Missense_T33M,Missense_T33M,Missense_T128M exm542164 6 36262090 [A/G] NM_173676,NM_001145716,NM_001145717 PNPLA1,PNPLA1,PNPLA1 EXON Missense_D115N,Missense_D124N,Missense_D210N exm542167 6 36262153 [A/G] NM_173676,NM_001145716,NM_001145717 PNPLA1,PNPLA1,PNPLA1 EXON Missense_A136T,Missense_A145T,Missense_A231T exm542175 6 36263171 [A/G] NM_173676,NM_001145716,NM_001145717 PNPLA1,PNPLA1,PNPLA1 EXON Missense_E154K,Missense_E163K,Missense_E249K exm542183 6 36269725 [A/G] NM_173676,NM_001145716,NM_001145717 PNPLA1,PNPLA1,PNPLA1 EXON Missense_E193G,Missense_E202G,Missense_E288G exm542186 6 36269766 [A/G] NM_173676,NM_001145716,NM_001145717 PNPLA1,PNPLA1,PNPLA1 EXON Missense_A207T,Missense_A216T,Missense_A302T exm542194 6 36269847 [T/C] NM_173676,NM_001145716,NM_001145717 PNPLA1,PNPLA1,PNPLA1 EXON Missense_S234P,Missense_S243P,Missense_S329P exm542202 6 36269946 [A/G] NM_173676,NM_001145716,NM_001145717 PNPLA1,PNPLA1,PNPLA1 EXON Missense_T267A,Missense_T276A,Missense_T362A exm542206 6 36270028 [T/C] NM_173676,NM_001145716,NM_001145717 PNPLA1,PNPLA1,PNPLA1 EXON Missense_L294P,Missense_L303P,Missense_L389P exm542210 6 36270130 [A/C] NM_173676,NM_001145716,NM_001145717 PNPLA1,PNPLA1,PNPLA1 EXON Missense_P328H,Missense_P337H,Missense_P423H exm542213 6 36270181 [A/G] NM_173676,NM_001145716,NM_001145717 PNPLA1,PNPLA1,PNPLA1 EXON Missense_R345Q,Missense_R354Q,Missense_R440Q exm542216 6 36270205 [T/C] NM_173676,NM_001145716,NM_001145717 PNPLA1,PNPLA1,PNPLA1 EXON Missense_A353V,Missense_A362V,Missense_A448V exm542219 6 36274104 [A/G] NM_173676,NM_001145716,NM_001145717 PNPLA1,PNPLA1,PNPLA1 EXON Missense_A379T,Missense_A388T,Missense_A474T exm542223 6 36274148 [A/T] NM_173676,NM_001145716,NM_001145717 PNPLA1,PNPLA1,PNPLA1 EXON Nonsense_Y393X,Nonsense_Y402X,Nonsense_Y488X exm542224 6 36274153 [T/C] NM_173676,NM_001145716,NM_001145717 PNPLA1,PNPLA1,PNPLA1 EXON Missense_T395M,Missense_T404M,Missense_T490M exm542229 6 36275458 [T/C] NM_173676,NM_001145716,NM_001145717 PNPLA1,PNPLA1,PNPLA1 EXON Missense_S427P,Missense_S436P,Missense_S522P exm542230 6 36275471 [A/G] NM_173676,NM_001145716,NM_001145717 PNPLA1,PNPLA1,PNPLA1 EXON Missense_K431R,Missense_K440R,Missense_K526R exm542231 6 36275472 [A/C] NM_173676,NM_001145716,NM_001145717 PNPLA1,PNPLA1,PNPLA1 EXON Missense_K431N,Missense_K440N,Missense_K526N exm542232 6 36275478 [G/C] NM_173676,NM_001145716,NM_001145717 PNPLA1,PNPLA1,PNPLA1 EXON Missense_S433R,Missense_S442R,Missense_S528R exm542237 6 36287134 [A/G] NM_001010903 C6orf222 EXON Missense_P641L exm542238 6 36287136 [G/C] NM_001010903 C6orf222 EXON Missense_Q640H exm542240 6 36287177 [T/C] NM_001010903 C6orf222 EXON Missense_D627N exm542247 6 36287294 [A/G] NM_001010903 C6orf222 EXON Missense_H588Y exm542248 6 36287312 [C/G] NM_001010903 C6orf222 EXON Missense_L582V exm542262 6 36291072 [A/C] NM_001010903 C6orf222 EXON Missense_L490R exm542263 6 36291084 [A/G] NM_001010903 C6orf222 EXON Missense_T486I exm542267 6 36291180 [T/C] NM_001010903 C6orf222 EXON Missense_R454K exm542282 6 36293083 [A/G] NM_001010903 C6orf222 EXON Missense_P382L exm542288 6 36293123 [G/C] NM_001010903 C6orf222 EXON Missense_P369A exm542293 6 36294339 [C/G] NM_001010903 C6orf222 EXON Missense_S328R exm542295 6 36294361 [A/G] NM_001010903 C6orf222 EXON Missense_A321V exm542304 6 36294481 [T/G] NM_001010903 C6orf222 EXON Missense_A281D exm542306 6 36294531 [T/C] NM_001010903 C6orf222 Silent exm542320 6 36297893 [T/C] NM_001010903 C6orf222 EXON Missense_R192H exm542324 6 36297929 [T/C] NM_001010903 C6orf222 EXON Missense_R180Q exm542331 6 36298059 [T/C] NM_001010903 C6orf222 EXON Missense_E137K exm542333 6 36298073 [T/C] NM_001010903 C6orf222 EXON Missense_H132R exm542345 6 36298242 [A/G] NM_001010903 C6orf222 EXON Missense_P76S exm542349 6 36298275 [A/G] NM_001010903 C6orf222 EXON Missense_S65P exm542351 6 36298316 [A/G] NM_001010903 C6orf222 EXON Missense_T51M exm542352 6 36298322 [T/G] NM_001010903 C6orf222 EXON Missense_H49P exm542356 6 36298382 [A/G] NM_001010903 C6orf222 EXON Missense_S29L exm542358 6 36298403 [A/G] NM_001010903 C6orf222 EXON Missense_P22L exm2257785 6 36298432 [T/C] NM_001010903 C6orf222 EXON Synonymous_A12A exm542371 6 36334748 [G/C] NM_001207039,NM_001207035,NM_001207037,NM_001207036,NM_016135,NM_001207041,NM_001207038,NM_001207040 ETV7,ETV7,ETV7,ETV7,ETV7,ETV7,ETV7,ETV7 EXON Missense_R216P,Missense_R271P,Missense_R212P,Missense_R216P,Missense_R271P,Missense_R120P,Missense_R194P,Missense_R190P exm542372 6 36334749 [A/G] NM_001207039,NM_001207035,NM_001207037,NM_001207036,NM_016135,NM_001207041,NM_001207038,NM_001207040 ETV7,ETV7,ETV7,ETV7,ETV7,ETV7,ETV7,ETV7 EXON Missense_R216W,Missense_R271W,Missense_R212W,Missense_R216W,Missense_R271W,Missense_R120W,Missense_R194W,Missense_R190W exm542376 6 36336764 [A/G] NM_001207039,NM_001207035,NM_001207037,NM_001207036,NM_016135,NM_001207041,NM_001207038,NM_001207040 ETV7,ETV7,ETV7,ETV7,ETV7,ETV7,ETV7,ETV7 EXON Missense_A195V,Missense_A250V,Missense_A191V,Missense_A195V,Missense_A250V,Missense_A99V,Missense_A173V,Missense_A169V exm542379 6 36336803 [A/G] NM_001207039,NM_001207035,NM_001207037,NM_001207036,NM_016135,NM_001207041,NM_001207038,NM_001207040 ETV7,ETV7,ETV7,ETV7,ETV7,ETV7,ETV7,ETV7 EXON Missense_T182I,Missense_T237I,Missense_T178I,Missense_T182I,Missense_T237I,Missense_T86I,Missense_T160I,Missense_T156I exm542387 6 36339136 [A/G] NM_001207039,NM_001207035,NM_001207037,NM_001207036,NM_016135,NM_001207041,NM_001207038,NM_001207040 ETV7,ETV7,ETV7,ETV7,ETV7,ETV7,ETV7,ETV7 EXON Missense_P157L,Missense_P212L,Missense_P153L,Missense_P157L,Missense_P212L,Missense_P61L,Silent,Missense_P131L exm542389 6 36339143 [T/C] NM_001207039,NM_001207035,NM_001207037,NM_001207036,NM_016135,NM_001207041,NM_001207038,NM_001207040 ETV7,ETV7,ETV7,ETV7,ETV7,ETV7,ETV7,ETV7 EXON Missense_A155T,Missense_A210T,Missense_A151T,Missense_A155T,Missense_A210T,Missense_A59T,Silent,Missense_A129T exm542393 6 36339176 [T/C] NM_001207039,NM_001207035,NM_001207037,NM_001207036,NM_016135,NM_001207041,NM_001207038,NM_001207040 ETV7,ETV7,ETV7,ETV7,ETV7,ETV7,ETV7,ETV7 EXON Missense_G144S,Missense_G199S,Missense_G140S,Missense_G144S,Missense_G199S,Missense_G48S,Silent,Missense_G118S exm542397 6 36339308 [A/G] NM_001207039,NM_001207035,NM_001207037,NM_001207036,NM_016135,NM_001207041,NM_001207038,NM_001207040 ETV7,ETV7,ETV7,ETV7,ETV7,ETV7,ETV7,ETV7 EXON Nonsense_R100X,Nonsense_R155X,Nonsense_R96X,Nonsense_R100X,Nonsense_R155X,Nonsense_R4X,Silent,Nonsense_R74X exm542401 6 36341251 [A/G] NM_001207039,NM_001207035,NM_001207037,NM_001207036,NM_016135,NM_001207041,NM_001207038,NM_001207040 ETV7,ETV7,ETV7,ETV7,ETV7,ETV7,ETV7,ETV7 EXON Missense_H83Y,Missense_H138Y,Missense_H79Y,Missense_H83Y,Missense_H138Y,Silent,Missense_H138Y,Missense_H57Y exm542409 6 36343658 [T/C] NM_001207039,NM_001207035,NM_001207037,NM_001207036,NM_016135,NM_001207041,NM_001207038,NM_001207040 ETV7,ETV7,ETV7,ETV7,ETV7,ETV7,ETV7,ETV7 EXON Silent,Synonymous_A99A,Missense_A27T,Silent,Synonymous_A99A,Silent,Synonymous_A99A,Synonymous_A18A exm542411 6 36343662 [T/C] NM_001207039,NM_001207035,NM_001207037,NM_001207036,NM_016135,NM_001207041,NM_001207038,NM_001207040 ETV7,ETV7,ETV7,ETV7,ETV7,ETV7,ETV7,ETV7 EXON Silent,Missense_R98H,Synonymous_P25P,Silent,Missense_R98H,Silent,Missense_R98H,Missense_R17H exm2274147 6 36343668 [A/C] NM_001207039,NM_001207035,NM_001207037,NM_001207036,NM_016135,NM_001207041,NM_001207038,NM_001207040 ETV7,ETV7,ETV7,ETV7,ETV7,ETV7,ETV7,ETV7 EXON Silent,Missense_R96L,Synonymous_P23P,Silent,Missense_R96L,Silent,Missense_R96L,Missense_R15L exm542416 6 36343699 [T/C] NM_001207039,NM_001207035,NM_001207037,NM_001207036,NM_016135,NM_001207041,NM_001207038,NM_001207040 ETV7,ETV7,ETV7,ETV7,ETV7,ETV7,ETV7,ETV7 EXON Silent,Missense_A86T,Missense_R13H,Silent,Missense_A86T,Silent,Missense_A86T,Missense_A5T exm542421 6 36343714 [T/C] NM_001207039,NM_001207035,NM_001207037,NM_001207036,NM_016135,NM_001207041,NM_001207038,NM_001207040 ETV7,ETV7,ETV7,ETV7,ETV7,ETV7,ETV7,ETV7 EXON Silent,Missense_E81K,Missense_R8Q,Silent,Missense_E81K,Silent,Missense_E81K,Silent exm542422 6 36343720 [T/C] NM_001207039,NM_001207035,NM_001207037,NM_001207036,NM_016135,NM_001207041,NM_001207038,NM_001207040 ETV7,ETV7,ETV7,ETV7,ETV7,ETV7,ETV7,ETV7 EXON Silent,Missense_G79R,Missense_R6Q,Silent,Missense_G79R,Silent,Missense_G79R,Silent exm542423 6 36343721 [A/G] NM_001207039,NM_001207035,NM_001207037,NM_001207036,NM_016135,NM_001207041,NM_001207038,NM_001207040 ETV7,ETV7,ETV7,ETV7,ETV7,ETV7,ETV7,ETV7 EXON Silent,Synonymous_H78H,Missense_R6W,Silent,Synonymous_H78H,Silent,Synonymous_H78H,Silent exm542424 6 36343727 [T/C] NM_001207039,NM_001207035,NM_001207037,NM_001207036,NM_016135,NM_001207041,NM_001207038,NM_001207040 ETV7,ETV7,ETV7,ETV7,ETV7,ETV7,ETV7,ETV7 EXON Silent,Synonymous_A76A,Missense_G4R,Silent,Synonymous_A76A,Silent,Synonymous_A76A,Silent exm542425 6 36343730 [A/G] NM_001207039,NM_001207035,NM_001207037,NM_001207036,NM_016135,NM_001207041,NM_001207038,NM_001207040 ETV7,ETV7,ETV7,ETV7,ETV7,ETV7,ETV7,ETV7 EXON Silent,Synonymous_T75T,Missense_R3C,Silent,Synonymous_T75T,Silent,Synonymous_T75T,Silent exm542432 6 36343780 [T/C] NM_001207039,NM_001207035,NM_001207037,NM_001207036,NM_016135,NM_001207041,NM_001207038,NM_001207040 ETV7,ETV7,ETV7,ETV7,ETV7,ETV7,ETV7,ETV7 EXON Silent,Missense_V59M,Silent,Silent,Missense_V59M,Silent,Missense_V59M,Silent exm542435 6 36353310 [T/C] NM_001207039,NM_001207035,NM_001207037,NM_001207036,NM_016135,NM_001207041,NM_001207038,NM_001207040 ETV7,ETV7,ETV7,ETV7,ETV7,ETV7,ETV7,ETV7 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm542450 6 36368236 [A/G] NM_152990 PXT1 EXON Nonsense_R99X exm542451 6 36368265 [A/G] NM_152990 PXT1 EXON Missense_I89T exm542458 6 36393816 [A/G] NM_152990 PXT1 EXON Missense_V15A exm542502 6 36442567 [A/C] NM_173562 KCTD20 EXON Missense_D54E exm542504 6 36442617 [T/C] NM_173562 KCTD20 EXON Missense_I71T exm2124097 6 36442659 [A/G] NM_173562 KCTD20 EXON Missense_S85N exm542507 6 36442678 [A/T] NM_173562 KCTD20 EXON Missense_H91Q exm542511 6 36442764 [T/C] NM_173562 KCTD20 EXON Missense_T120M exm542518 6 36446975 [C/G] NM_173562 KCTD20 EXON Missense_S171T exm542537 6 36454828 [T/C] NM_173562 KCTD20 EXON Missense_V379A exm542538 6 36454836 [A/G] NM_173562 KCTD20 EXON Missense_G382R exm542549 6 36463596 [T/C] NM_007271 STK38 EXON Missense_G455R exm2124119 6 36465576 [T/C] NM_007271 STK38 EXON Missense_V385I exm542575 6 36489585 [A/C] NM_007271 STK38 EXON Missense_V106F exm-rs2395653 6 36520393 [T/C] exm-rs1321311 6 36622900 [A/C] exm-rs9470361 6 36623379 [A/G] exm2270465 6 36632688 [T/C] exm542615 6 36651889 [T/C] NM_001220777,NM_078467,NM_000389,NM_001220778 CDKN1A,CDKN1A,CDKN1A,CDKN1A EXON Missense_P4L,Missense_P4L,Missense_P4L,Missense_P4L exm542617 6 36651904 [A/G] NM_001220777,NM_078467,NM_000389,NM_001220778 CDKN1A,CDKN1A,CDKN1A,CDKN1A EXON Missense_R9H,Missense_R9H,Missense_R9H,Missense_R9H exm542620 6 36651971 [A/C] NM_001220777,NM_078467,NM_000389,NM_001220778 CDKN1A,CDKN1A,CDKN1A,CDKN1A EXON Missense_S31R,Missense_S31R,Missense_S31R,Missense_S31R exm542625 6 36652067 [A/C] NM_001220777,NM_078467,NM_000389,NM_001220778 CDKN1A,CDKN1A,CDKN1A,CDKN1A EXON Missense_F63L,Missense_F63L,Missense_F63L,Missense_F63L exm2244024 6 36652086 [A/G] NM_001220777,NM_078467,NM_000389,NM_001220778 CDKN1A,CDKN1A,CDKN1A,CDKN1A EXON Missense_G70S,Missense_G70S,Missense_G70S,Missense_G70S exm542628 6 36652092 [A/G] NM_001220777,NM_078467,NM_000389,NM_001220778 CDKN1A,CDKN1A,CDKN1A,CDKN1A EXON Missense_G72S,Missense_G72S,Missense_G72S,Missense_G72S exm542638 6 36652228 [A/G] NM_001220777,NM_078467,NM_000389,NM_001220778 CDKN1A,CDKN1A,CDKN1A,CDKN1A EXON Missense_C117Y,Missense_C117Y,Missense_C117Y,Missense_C117Y exm2257787 6 36705200 [T/G] exm2244025 6 36708556 [G/C] NM_020939 CPNE5 EXON Silent exm542656 6 36710109 [G/C] NM_020939 CPNE5 EXON Missense_T573S exm2124186 6 36712825 [A/G] NM_020939 CPNE5 EXON Synonymous_N477N exm542677 6 36712914 [T/C] NM_020939 CPNE5 EXON Missense_V448M exm542678 6 36712924 [A/C] NM_020939 CPNE5 EXON Missense_N444K exm542684 6 36713223 [A/G] NM_020939 CPNE5 EXON Missense_R424C exm542692 6 36714277 [T/C] NM_020939 CPNE5 EXON Missense_V366I exm2124195 6 36716038 [C/G] NM_020939 CPNE5 EXON Missense_Q326H exm542707 6 36730758 [A/G] NM_020939 CPNE5 EXON Missense_I264T exm542720 6 36742769 [T/C] NM_020939 CPNE5 EXON Missense_V236M exm542722 6 36746631 [A/G] NM_020939 CPNE5 EXON Missense_T211M exm542737 6 36762419 [T/C] NM_020939 CPNE5 EXON Missense_A138T exm2244029 6 36790872 [T/C] NM_020939 CPNE5 EXON Missense_N33S exm2124231 6 36823754 [T/G] NM_016059 PPIL1 EXON Missense_F112L exm542772 6 36823795 [A/C] NM_016059 PPIL1 EXON Missense_A99S exm542778 6 36839598 [C/G] NM_016059 PPIL1 EXON Missense_C36S exm542795 6 36867372 [A/C] NM_152734 C6orf89 EXON Missense_P58H exm542823 6 36882429 [T/C] NM_152734 C6orf89 EXON Missense_R226C exm542827 6 36884243 [A/C] NM_152734 C6orf89 EXON Missense_Q247K exm542832 6 36884316 [C/G] NM_152734 C6orf89 EXON Missense_S271C exm542842 6 36887436 [A/G] NM_152734 C6orf89 EXON Missense_H310R exm542844 6 36887476 [T/C] NM_152734 C6orf89 EXON Synonymous_I323I exm542847 6 36891155 [G/C] NM_152734 C6orf89 EXON Missense_V335L exm542861 6 36922621 [A/G] NM_001199159,NM_153370 PI16,PI16 EXON Missense_T29A,Missense_T29A exm542864 6 36922684 [A/C] NM_001199159,NM_153370 PI16,PI16 EXON Missense_T50P,Missense_T50P exm542869 6 36926952 [A/G] NM_001199159,NM_153370 PI16,PI16 EXON Missense_K68R,Missense_K68R exm542873 6 36927113 [A/C] NM_001199159,NM_153370 PI16,PI16 EXON Missense_P122T,Missense_P122T exm542885 6 36929703 [T/C] NM_001199159,NM_153370 PI16,PI16 EXON Missense_P182L,Missense_P182L exm542887 6 36930773 [T/G] NM_001199159,NM_153370 PI16,PI16 EXON Missense_F219V,Missense_F219V exm542889 6 36930792 [C/G] NM_001199159,NM_153370 PI16,PI16 EXON Nonsense_S225X,Nonsense_S225X exm542892 6 36930902 [A/G] NM_001199159,NM_153370 PI16,PI16 EXON Missense_T262A,Missense_T262A exm2124269 6 36930981 [T/C] NM_001199159,NM_153370 PI16,PI16 EXON Missense_V288A,Missense_V288A exm542905 6 36931208 [T/C] NM_001199159,NM_153370 PI16,PI16 EXON Missense_P364S,Missense_P364S exm542915 6 36931364 [G/C] NM_001199159,NM_153370 PI16,PI16 EXON Missense_L416V,Missense_L416V exm542916 6 36931386 [T/C] NM_001199159,NM_153370 PI16,PI16 EXON Missense_P423L,Missense_P423L exm542918 6 36931598 [A/G] NM_001199159,NM_153370 PI16,PI16 Silent,Silent exm542921 6 36931644 [T/C] NM_001199159,NM_153370 PI16,PI16 EXON Missense_S439L,Missense_S439L exm542944 6 36938448 [T/C] NM_014341,NM_001271641 MTCH1,MTCH1 EXON Missense_R293Q,Missense_R310Q exm542949 6 36943435 [T/C] NM_014341,NM_001271641 MTCH1,MTCH1 EXON Missense_V254I,Missense_V254I exm542965 6 36946386 [T/G] NM_014341,NM_001271641 MTCH1,MTCH1 EXON Synonymous_A136A,Synonymous_A136A exm542977 6 36976637 [G/C] NM_173558 FGD2 EXON Missense_Q32H exm542978 6 36976649 [A/C] NM_173558 FGD2 EXON Missense_D36E exm542983 6 36976705 [T/C] NM_173558 FGD2 EXON Missense_T55M exm542984 6 36976710 [A/G] NM_173558 FGD2 EXON Missense_V57I exm542986 6 36976713 [A/G] NM_173558 FGD2 EXON Missense_G58R exm542988 6 36976722 [A/G] NM_173558 FGD2 EXON Missense_V61M exm542991 6 36976747 [C/G] NM_173558 FGD2 EXON Missense_S69T exm542998 6 36978760 [T/G] NM_173558 FGD2 EXON Missense_K104N exm2124313 6 36979537 [T/A] NM_173558 FGD2 EXON Missense_D145V exm543032 6 36982435 [A/G] NM_173558 FGD2 EXON Missense_M279I exm2124330 6 36982699 [A/T] NM_173558 FGD2 EXON Missense_Q305L exm543040 6 36982716 [A/G] NM_173558 FGD2 EXON Missense_D311N exm543048 6 36983556 [G/C] NM_173558 FGD2 EXON Missense_L348V exm543049 6 36983586 [G/C] NM_173558 FGD2 EXON Missense_V358L exm543056 6 36988355 [C/G] NM_173558 FGD2 EXON Missense_F387L exm543060 6 36989308 [A/C] NM_173558 FGD2 EXON Missense_D418E exm543063 6 36990029 [C/G] NM_173558 FGD2 EXON Missense_E447D exm543070 6 36993613 [A/G] NM_173558 FGD2 EXON Missense_D502N exm543073 6 36993632 [A/G] NM_173558 FGD2 EXON Missense_R508Q exm543083 6 36995281 [A/G] NM_173558 FGD2 EXON Missense_S561N exm543096 6 36995794 [A/G] NM_173558 FGD2 EXON Missense_R608Q exm2270311 6 36999579 [T/G] exm543137 6 37138904 [A/G] NM_001243186,NM_002648 PIM1,PIM1 EXON Missense_N173D,Missense_N82D exm543150 6 37139030 [G/C] NM_001243186,NM_002648 PIM1,PIM1 EXON Missense_E215Q,Missense_E124Q exm543153 6 37139129 [T/C] NM_001243186,NM_002648 PIM1,PIM1 EXON Missense_H248Y,Missense_H157Y exm543167 6 37141856 [A/C] NM_001243186,NM_002648 PIM1,PIM1 EXON Missense_P402T,Missense_P311T exm543176 6 37183026 [T/G] NM_145316 TMEM217 EXON Missense_P213Q exm543185 6 37186394 [A/G] NM_145316,NM_001162900 TMEM217,TMEM217 EXON Missense_M138T,Missense_M138T exm543188 6 37186479 [T/C] NM_145316,NM_001162900 TMEM217,TMEM217 EXON Missense_V110I,Missense_V110I exm543194 6 37186550 [A/G] NM_145316,NM_001162900 TMEM217,TMEM217 EXON Missense_V86A,Missense_V86A exm543205 6 37186749 [A/C] NM_145316,NM_001162900 TMEM217,TMEM217 EXON Missense_V20F,Missense_V20F exm543212 6 37247114 [T/C] NM_017772 TBC1D22B EXON Missense_P50S exm543218 6 37247192 [A/G] NM_017772 TBC1D22B EXON Missense_E76K exm543219 6 37247211 [T/C] NM_017772 TBC1D22B EXON Missense_S82L exm543222 6 37247322 [T/C] NM_017772 TBC1D22B EXON Missense_S119L exm543234 6 37250068 [G/C] NM_017772 TBC1D22B EXON Missense_P177A exm543235 6 37250071 [A/G] NM_017772 TBC1D22B EXON Missense_M178V exm543241 6 37250698 [T/G] NM_017772 TBC1D22B EXON Missense_E214D exm543261 6 37284550 [A/C] NM_017772 TBC1D22B EXON Missense_L413M exm543262 6 37298829 [A/C] NM_017772 TBC1D22B EXON Missense_M467L exm543309 6 37358551 [A/G] NM_183078,NM_003958,NR_046399 RNF8,RNF8,RNF8 EXON Missense_A424T,Silent,Silent exm543312 6 37358609 [T/C] NM_183078,NM_003958,NR_046399 RNF8,RNF8,RNF8 EXON Missense_A443V,Silent,Silent exm543326 6 37414173 [T/C] NM_015050 FTSJD2 EXON Missense_T131I exm543327 6 37414212 [A/G] NM_015050 FTSJD2 EXON Missense_R144Q exm2274148 6 37427378 [A/G] NM_015050 FTSJD2 EXON Missense_R338H exm543366 6 37441348 [A/G] NM_015050 FTSJD2 EXON Missense_S598G exm543371 6 37442339 [T/C] NM_015050 FTSJD2 EXON Missense_R621C exm543375 6 37443163 [A/G] NM_015050 FTSJD2 EXON Missense_V671I exm543387 6 37446185 [A/G] NM_015050 FTSJD2 EXON Synonymous_R718R exm543410 6 37451032 [T/C] NM_138493 CCDC167 EXON Missense_R75Q exm-rs904251 6 37451696 [T/G] NM_138493 CCDC167 Silent exm543421 6 37452898 [A/G] NM_138493 CCDC167 EXON Missense_R39W exm2270312 6 37487044 [T/C] exm-rs3734316 6 37597129 [T/C] exm2273419 6 37605100 [T/G] NM_153487 MDGA1 EXON Silent exm543431 6 37605158 [T/C] NM_153487 MDGA1 EXON Missense_A952T exm543444 6 37606004 [T/C] NM_153487 MDGA1 EXON Missense_R918Q exm543469 6 37612408 [G/C] NM_153487 MDGA1 EXON Missense_E756Q exm543470 6 37612420 [T/G] NM_153487 MDGA1 EXON Missense_T752P exm543480 6 37613995 [A/G] NM_153487 MDGA1 EXON Missense_R735C exm543484 6 37614063 [T/C] NM_153487 MDGA1 EXON Missense_R712H exm543488 6 37614112 [A/G] NM_153487 MDGA1 EXON Missense_R696W exm543489 6 37614125 [A/C] NM_153487 MDGA1 EXON Missense_K691N exm543490 6 37614135 [A/G] NM_153487 MDGA1 EXON Missense_A688V exm543515 6 37619853 [T/C] NM_153487 MDGA1 EXON Missense_M416V exm543521 6 37619967 [T/C] NM_153487 MDGA1 EXON Missense_A378T exm2257790 6 37626091 [A/G] NM_153487 MDGA1 EXON Synonymous_G104G exm543562 6 37631768 [A/G] NM_153487 MDGA1 EXON Missense_L61P exm543564 6 37631846 [A/G] NM_153487 MDGA1 EXON Missense_A35V exm543593 6 38084405 [T/C] NM_021943 ZFAND3 EXON Missense_T140M exm543600 6 38120016 [A/G] NM_021943 ZFAND3 EXON Missense_V179M exm2266181 6 38222018 [A/G] NM_052893,NM_152733,NM_001099272,NM_001172418 BTBD9,BTBD9,BTBD9,BTBD9 Silent,Silent,Silent,Silent exm543619 6 38224249 [T/C] NM_052893,NM_152733,NM_001099272,NM_001172418 BTBD9,BTBD9,BTBD9,BTBD9 EXON Missense_V500I,Missense_V432I,Missense_V500I,Missense_V470I exm543621 6 38224268 [A/C] NM_052893,NM_152733,NM_001099272,NM_001172418 BTBD9,BTBD9,BTBD9,BTBD9 EXON Missense_D493E,Missense_D425E,Missense_D493E,Missense_D463E exm2266303 6 38250780 [A/G] NM_052893,NM_152733,NM_001099272,NM_001172418 BTBD9,BTBD9,BTBD9,BTBD9 Silent,Silent,Silent,Silent exm-rs9296249 6 38365841 [T/C] NM_052893,NM_152733,NM_001099272,NM_001172418 BTBD9,BTBD9,BTBD9,BTBD9 Silent,Silent,Silent,Silent exm-rs9357271 6 38365873 [T/C] NM_052893,NM_152733,NM_001099272,NM_001172418 BTBD9,BTBD9,BTBD9,BTBD9 Silent,Silent,Silent,Silent exm2266182 6 38389301 [A/G] NM_052893,NM_152733,NM_001099272,NM_001172418 BTBD9,BTBD9,BTBD9,BTBD9 Silent,Silent,Silent,Silent exm-rs3923809 6 38440970 [A/G] NM_052893,NM_152733,NM_001099272,NM_001172418 BTBD9,BTBD9,BTBD9,BTBD9 Silent,Silent,Silent,Silent exm543636 6 38548022 [A/G] NM_052893,NM_152733,NM_001099272,NM_001172418 BTBD9,BTBD9,BTBD9,BTBD9 EXON Missense_R336W,Missense_R268W,Missense_R336W,Missense_R277W exm543649 6 38560616 [T/C] NM_052893,NM_152733,NM_001099272,NM_001172418 BTBD9,BTBD9,BTBD9,BTBD9 EXON Missense_T184A,Missense_T116A,Missense_T184A,Missense_T125A exm543665 6 38565759 [T/C] NM_052893,NM_001099272 BTBD9,BTBD9 EXON Missense_V38I,Missense_V38I exm543677 6 38649871 [A/G] NM_006708 GLO1 EXON Missense_I128T exm2244047 6 38650625 [A/G] NM_006708 GLO1 EXON Missense_T112I exm543682 6 38650628 [T/G] NM_006708 GLO1 EXON Missense_E111A exm543689 6 38654723 [A/G] NM_006708 GLO1 EXON Nonsense_R38X exm543691 6 38654735 [A/G] NM_006708 GLO1 EXON Nonsense_Q34X exm543724 6 38702283 [A/G] NM_001206927 DNAH8 EXON Missense_G215E exm543730 6 38702363 [T/C] NM_001206927 DNAH8 EXON Missense_R242C exm543731 6 38702364 [A/G] NM_001206927 DNAH8 EXON Missense_R242H exm543732 6 38702376 [T/C] NM_001206927 DNAH8 EXON Missense_A246V exm2275882 6 38704868 [A/C] NM_001206927 DNAH8 EXON Missense_A263E exm543736 6 38704912 [A/G] NM_001206927 DNAH8 EXON Missense_I278V exm543738 6 38704943 [A/G] NM_001206927 DNAH8 EXON Missense_N288S exm543743 6 38705623 [A/G] NM_001206927 DNAH8 EXON Missense_T331A exm543763 6 38729511 [T/C] NM_001206927 DNAH8 EXON Missense_Y517H exm543769 6 38738337 [T/C] NM_001206927 DNAH8 Silent exm543782 6 38746176 [A/G] NM_001206927 DNAH8 EXON Missense_A659T exm543785 6 38747770 [A/G] NM_001206927 DNAH8 EXON Missense_G690R exm543791 6 38749064 [G/C] NM_001206927 DNAH8 EXON Missense_A725G exm543797 6 38750805 [T/C] NM_001206927 DNAH8 EXON Missense_P762L exm543802 6 38750888 [A/G] NM_001206927 DNAH8 EXON Missense_I790V exm543812 6 38754624 [T/C] NM_001206927 DNAH8 EXON Missense_R827W exm2124708 6 38754694 [A/G] NM_001206927 DNAH8 EXON Missense_E850G exm543818 6 38757615 [A/G] NM_001206927 DNAH8 EXON Missense_V874M exm543824 6 38759353 [A/G] NM_001206927 DNAH8 EXON Missense_H935R exm543826 6 38759379 [A/G] NM_001206927 DNAH8 EXON Missense_A944T exm543830 6 38770968 [T/A] NM_001206927 DNAH8 EXON Missense_E972V exm543833 6 38771013 [A/C] NM_001206927 DNAH8 EXON Missense_A987D exm543835 6 38771070 [A/G] NM_001206927 DNAH8 EXON Missense_K1006R exm543843 6 38773293 [A/G] NM_001206927 DNAH8 EXON Missense_G1024E exm543847 6 38775450 [A/G] NM_001206927 DNAH8 EXON Missense_R1072Q exm543852 6 38783269 [T/C] NM_001206927 DNAH8 EXON Missense_I1120T exm543856 6 38783302 [A/C] NM_001206927 DNAH8 EXON Missense_T1131N exm543859 6 38790628 [A/G] NM_001206927 DNAH8 EXON Missense_A1180T exm543868 6 38790793 [T/C] NM_001206927 DNAH8 EXON Missense_R1235C exm543869 6 38790796 [G/C] NM_001206927 DNAH8 EXON Missense_D1236H exm2244052 6 38791393 [A/G] NM_001206927 DNAH8 EXON Missense_Y1259C exm543874 6 38793946 [T/G] NM_001206927 DNAH8 EXON Missense_A1288S exm543882 6 38795987 [A/G] NM_001206927 DNAH8 EXON Missense_E1371K exm543884 6 38800140 [A/G] NM_001206927 DNAH8 EXON Missense_K1411E exm543885 6 38800164 [A/G] NM_001206927 DNAH8 EXON Missense_E1419K exm543887 6 38800174 [A/G] NM_001206927 DNAH8 EXON Missense_R1422H exm543894 6 38805727 [A/G] NM_001206927 DNAH8 EXON Missense_D1459N exm543908 6 38810443 [T/C] NM_001206927 DNAH8 EXON Missense_R1537C exm2274149 6 38810584 [A/G] NM_001206927 DNAH8 EXON Missense_E1584K exm543915 6 38810634 [T/A] NM_001206927 DNAH8 EXON Missense_R1600S exm543917 6 38813412 [T/G] NM_001206927 DNAH8 EXON Missense_E1636D exm543925 6 38816549 [A/G] NM_001206927 DNAH8 EXON Missense_G1724D exm543926 6 38816563 [A/C] NM_001206927 DNAH8 EXON Missense_K1729Q exm543928 6 38818036 [T/C] NM_001206927 DNAH8 EXON Missense_R1737C exm543929 6 38818051 [A/G] NM_001206927 DNAH8 EXON Missense_D1742N exm543933 6 38820471 [T/C] NM_001206927 DNAH8 EXON Missense_P1823L exm543934 6 38820493 [A/C] NM_001206927 DNAH8 EXON Missense_D1830E exm543935 6 38820501 [A/G] NM_001206927 DNAH8 EXON Missense_N1833S exm543936 6 38820530 [C/G] NM_001206927 DNAH8 EXON Missense_D1843H exm2244054 6 38820545 [A/G] NM_001206927 DNAH8 EXON Missense_V1848I exm543939 6 38820548 [T/A] NM_001206927 DNAH8 EXON Missense_I1849L exm543943 6 38820993 [T/G] NM_001206927 DNAH8 EXON Missense_V1868G exm543949 6 38821091 [T/C] NM_001206927 DNAH8 EXON Missense_L1901F exm543957 6 38825405 [A/G] NM_001206927 DNAH8 EXON Missense_I1949V exm543964 6 38828406 [A/G] NM_001206927 DNAH8 Silent exm543994 6 38838204 [A/G] NM_001206927 DNAH8 EXON Missense_S2286G exm544000 6 38838333 [T/G] NM_001206927 DNAH8 EXON Missense_V2329L exm544008 6 38840444 [A/C] NM_001206927 DNAH8 EXON Missense_N2375H exm544009 6 38840492 [T/G] NM_001206927 DNAH8 EXON Missense_A2391S exm544016 6 38840790 [T/G] NM_001206927 DNAH8 EXON Missense_R2449L exm544018 6 38840828 [A/G] NM_001206927 DNAH8 EXON Missense_V2462I exm544021 6 38840915 [A/G] NM_001206927 DNAH8 EXON Missense_I2491V exm544035 6 38843520 [T/C] NM_001206927 DNAH8 EXON Missense_R2592W exm544041 6 38850755 [A/C] NM_001206927 DNAH8 EXON Nonsense_S2643X exm544042 6 38850809 [A/C] NM_001206927 DNAH8 EXON Missense_T2661N exm544046 6 38851142 [A/G] NM_001206927 DNAH8 EXON Missense_M2682I exm544061 6 38854645 [A/G] NM_001206927 DNAH8 EXON Missense_I2780V exm544062 6 38854646 [T/C] NM_001206927 DNAH8 EXON Missense_I2780T exm544067 6 38858447 [A/C] NM_001206927 DNAH8 EXON Nonsense_Y2831X exm544076 6 38862525 [T/C] NM_001206927 DNAH8 EXON Nonsense_R2878X exm544086 6 38863930 [T/C] NM_001206927 DNAH8 EXON Missense_R2957C exm544088 6 38863970 [T/C] NM_001206927 DNAH8 EXON Missense_S2970F exm544092 6 38866118 [A/C] NM_001206927 DNAH8 EXON Missense_L3009M exm544094 6 38866134 [A/G] NM_001206927 DNAH8 EXON Missense_D3014G exm544097 6 38867655 [A/G] NM_001206927 DNAH8 EXON Missense_Y3056C exm544100 6 38867683 [A/G] NM_001206927 DNAH8 Silent exm544115 6 38877354 [A/G] NM_001206927,NR_038401 DNAH8,LOC100131047 EXON Missense_M3192V,Silent exm544119 6 38877423 [T/A] NM_001206927,NR_038401 DNAH8,LOC100131047 EXON Missense_N3215Y,Silent exm544120 6 38877453 [A/C] NM_001206927,NR_038401 DNAH8,LOC100131047 EXON Missense_Q3225K,Silent exm544123 6 38877490 [T/C] NM_001206927,NR_038401 DNAH8,LOC100131047 EXON Missense_V3237A,Silent exm544125 6 38877519 [A/G] NM_001206927,NR_038401 DNAH8,LOC100131047 EXON Missense_R3247G,Silent exm544128 6 38879314 [T/G] NM_001206927,NR_038401 DNAH8,LOC100131047 EXON Missense_A3271S,Silent exm544132 6 38881708 [A/G] NM_001206927,NR_038401 DNAH8,LOC100131047 EXON Missense_A3315T,Silent exm2244056 6 38885810 [C/G] NM_001206927,NR_038401 DNAH8,LOC100131047 EXON Missense_T3473S,Silent exm544158 6 38889149 [A/G] NM_001206927,NR_038401 DNAH8,LOC100131047 EXON Missense_N3510S,Silent exm544161 6 38889257 [T/C] NM_001206927,NR_038401 DNAH8,LOC100131047 EXON Missense_F3546S,Silent exm544165 6 38890849 [A/G] NM_001206927,NR_038401 DNAH8,LOC100131047 EXON Missense_A3560T,Silent exm544168 6 38890944 [C/G] NM_001206927,NR_038401 DNAH8,LOC100131047 EXON Missense_F3591L,Silent exm544176 6 38891879 [T/C] NM_001206927,NR_038401 DNAH8,LOC100131047 EXON Missense_R3635W,Silent exm544186 6 38897350 [T/C] NM_001206927,NR_038401 DNAH8,LOC100131047 EXON Missense_P3728S,Silent exm544188 6 38897372 [A/G] NM_001206927,NR_038401 DNAH8,LOC100131047 EXON Missense_H3735R,Silent exm544202 6 38903378 [T/C] NM_001206927,NR_038401 DNAH8,LOC100131047 EXON Missense_A3823V,Silent exm544211 6 38905881 [T/C] NM_001206927,NR_038401 DNAH8,LOC100131047 EXON Missense_R3899W,Silent exm544219 6 38905942 [A/G] NM_001206927,NR_038401 DNAH8,LOC100131047 EXON Missense_N3919S,Silent exm544221 6 38905957 [T/C] NM_001206927,NR_038401 DNAH8,LOC100131047 EXON Missense_T3924M,Silent exm544226 6 38906576 [A/C] NM_001206927,NR_038401 DNAH8,LOC100131047 EXON Missense_S3940Y,Silent exm544229 6 38906608 [A/G] NM_001206927,NR_038401 DNAH8,LOC100131047 EXON Missense_T3951A,Silent exm544235 6 38906729 [T/C] NM_001206927,NR_038401 DNAH8,LOC100131047 EXON Missense_T3991I,Silent exm544241 6 38913288 [A/G] NM_001206927,NR_038401 DNAH8,LOC100131047 EXON Missense_R4018H,Silent exm544247 6 38917231 [A/T] NM_001206927,NR_038401 DNAH8,LOC100131047 EXON Missense_S4045T,Silent exm544248 6 38917235 [A/G] NM_001206927,NR_038401 DNAH8,LOC100131047 EXON Missense_R4046H,Silent exm544249 6 38917321 [A/C] NM_001206927,NR_038401 DNAH8,LOC100131047 EXON Missense_T4075P,Silent exm544259 6 38939412 [T/C] NM_001206927 DNAH8 EXON Nonsense_R4166X exm544262 6 38941478 [A/C] NM_001206927 DNAH8 EXON Missense_E4189D exm2124888 6 38941501 [T/C] NM_001206927 DNAH8 EXON Missense_T4197M exm544268 6 38941528 [A/C] NM_001206927 DNAH8 EXON Missense_D4206A exm544272 6 38941567 [A/G] NM_001206927 DNAH8 EXON Missense_R4219Q exm544301 6 38957948 [T/C] NM_001206927 DNAH8 EXON Missense_T4405M exm544305 6 38976675 [T/C] NM_001206927 DNAH8 EXON Missense_R4434W exm544308 6 38980000 [T/C] NM_001206927 DNAH8 EXON Missense_R4461C exm544311 6 38980036 [A/C] NM_001206927 DNAH8 EXON Missense_I4473L exm544313 6 38980081 [A/G] NM_001206927 DNAH8 EXON Missense_I4488V exm544315 6 38980087 [T/C] NM_001206927 DNAH8 EXON Missense_R4490C exm2124912 6 38980254 [A/G] NM_001206927 DNAH8 EXON Missense_D4519N exm544320 6 38980261 [A/G] NM_001206927 DNAH8 EXON Missense_R4521H exm544322 6 38980306 [T/C] NM_001206927 DNAH8 EXON Missense_L4536P exm544325 6 38994354 [T/C] NM_001206927 DNAH8 EXON Missense_R4583C exm544328 6 38994430 [T/C] NM_001206927 DNAH8 EXON Missense_T4608M exm544332 6 38997902 [T/C] NM_001206927 DNAH8 EXON Missense_L4620F exm544336 6 38998006 [T/G] NM_001206927 DNAH8 EXON Missense_I4654M exm544338 6 38998040 [T/G] NM_001206927 DNAH8 EXON Missense_V4666L exm544342 6 38998103 [T/C] NM_001206927 DNAH8 EXON Nonsense_R4687X exm544343 6 38998119 [T/C] NM_001206927 DNAH8 EXON Missense_P4692L exm2257793 6 39020542 [T/C] NM_002062 GLP1R Silent exm544355 6 39024212 [T/C] NM_002062 GLP1R EXON Nonsense_R40X exm2244060 6 39024225 [A/G] NM_002062 GLP1R EXON Missense_R44H exm544372 6 39033595 [A/G] NM_002062 GLP1R EXON Missense_R131Q exm544378 6 39034072 [A/G] NM_002062 GLP1R EXON Missense_G168S exm2124935 6 39040708 [A/G] NM_002062 GLP1R EXON Missense_V194I exm544388 6 39040753 [A/G] NM_002062 GLP1R EXON Missense_A209T exm544391 6 39041467 [A/G] NM_002062 GLP1R EXON Missense_V249M exm544393 6 39041502 [A/C] NM_002062 GLP1R EXON Missense_L260F exm544394 6 39041524 [T/C] NM_002062 GLP1R EXON Missense_L268F exm544402 6 39046794 [A/G] NM_002062 GLP1R EXON Missense_A316T exm544419 6 39047423 [A/G] NM_002062 GLP1R EXON Missense_R376Q exm544424 6 39053718 [T/C] NM_002062 GLP1R EXON Missense_R421W exm544425 6 39053719 [A/G] NM_002062 GLP1R EXON Missense_R421Q exm2124956 6 39053775 [A/G] NM_002062 GLP1R EXON Missense_T440A exm2124958 6 39073242 [A/C] NM_018322 SAYSD1 EXON Missense_R173L exm544443 6 39073345 [A/G] NM_018322 SAYSD1 EXON Nonsense_R139X exm544446 6 39073365 [T/C] NM_018322 SAYSD1 EXON Missense_Y132C exm544457 6 39082805 [T/G] NM_018322 SAYSD1 EXON Missense_P21T exm544464 6 39158773 [T/G] NM_003740 KCNK5 EXON Missense_P465T exm544473 6 39158908 [T/C] NM_003740 KCNK5 EXON Missense_I420V exm544475 6 39158947 [T/C] NM_003740 KCNK5 EXON Missense_A407T exm544479 6 39158976 [T/C] NM_003740 KCNK5 EXON Missense_R397H exm544481 6 39159001 [T/C] NM_003740 KCNK5 EXON Missense_E389K exm544486 6 39159072 [T/A] NM_003740 KCNK5 EXON Missense_K365I exm544488 6 39159112 [T/C] NM_003740 KCNK5 EXON Missense_V352M exm2274150 6 39159142 [T/C] NM_003740 KCNK5 EXON Missense_V342M exm544493 6 39159204 [A/G] NM_003740 KCNK5 EXON Missense_T321M exm544494 6 39159213 [A/C] NM_003740 KCNK5 EXON Missense_G318V exm544502 6 39159346 [C/G] NM_003740 KCNK5 EXON Missense_R274G exm544505 6 39159379 [A/G] NM_003740 KCNK5 EXON Missense_R263W exm544512 6 39161946 [A/G] NM_003740 KCNK5 EXON Synonymous_A211A exm544515 6 39162068 [T/C] NM_003740 KCNK5 EXON Missense_V171I exm544519 6 39162417 [A/G] NM_003740 KCNK5 EXON Missense_R140C exm544535 6 39163744 [T/C] NM_003740 KCNK5 EXON Missense_G69E exm-rs10947789 6 39174922 [T/C] NM_003740 KCNK5 Silent exm544545 6 39267246 [A/G] NM_031460,NM_001135111 KCNK17,KCNK17 EXON Missense_L319P,Silent exm544546 6 39267267 [T/G] NM_031460,NM_001135111 KCNK17,KCNK17 EXON Missense_P312H,Silent exm544549 6 39267279 [T/C] NM_031460,NM_001135111 KCNK17,KCNK17 EXON Missense_Y308C,Silent exm544551 6 39267315 [T/C] NM_031460,NM_001135111 KCNK17,KCNK17 EXON Missense_R296Q,Silent exm544555 6 39267445 [A/T] NM_031460,NM_001135111 KCNK17,KCNK17 EXON Missense_M253L,Silent exm2125004 6 39272366 [T/C] NM_031460,NM_001135111 KCNK17,KCNK17 EXON Missense_G140R,Missense_G140R exm544593 6 39278756 [T/C] NM_031460,NM_001135111 KCNK17,KCNK17 EXON Missense_A89T,Missense_A89T exm544597 6 39278777 [C/G] NM_031460,NM_001135111 KCNK17,KCNK17 EXON Missense_V82L,Missense_V82L exm544600 6 39281907 [A/G] NM_031460,NM_001135111 KCNK17,KCNK17 EXON Nonsense_Q64X,Nonsense_Q64X exm544601 6 39281916 [T/C] NM_031460,NM_001135111 KCNK17,KCNK17 EXON Missense_E61K,Missense_E61K exm544617 6 39282806 [T/G] NM_001135105,NM_032115,NM_001135107 KCNK16,KCNK16,KCNK16 EXON Silent,Missense_P301H,Missense_P254H exm544619 6 39282816 [A/G] NM_001135105,NM_032115,NM_001135107 KCNK16,KCNK16,KCNK16 EXON Silent,Nonsense_Q298X,Nonsense_Q251X exm544625 6 39283039 [G/C] NM_001135105,NM_032115,NM_001135107 KCNK16,KCNK16,KCNK16 EXON Missense_P277R,Silent,Silent exm544627 6 39283079 [A/G] NM_001135105,NM_032115,NM_001135107 KCNK16,KCNK16,KCNK16 EXON Missense_W264R,Silent,Silent exm544633 6 39284050 [T/G] NM_001135105,NM_032115,NM_001135107,NM_001135106 KCNK16,KCNK16,KCNK16,KCNK16 EXON Silent,Silent,Silent,Missense_A277E exm544634 6 39284063 [T/C] NM_001135105,NM_032115,NM_001135107,NM_001135106 KCNK16,KCNK16,KCNK16,KCNK16 EXON Silent,Silent,Silent,Missense_V273I exm544645 6 39284597 [T/G] NM_001135105,NM_032115,NM_001135107,NM_001135106 KCNK16,KCNK16,KCNK16,KCNK16 EXON Missense_I208L,Missense_I208L,Missense_I208L,Missense_I208L exm544649 6 39284705 [C/G] NM_001135105,NM_032115,NM_001135107,NM_001135106 KCNK16,KCNK16,KCNK16,KCNK16 EXON Missense_L172V,Missense_L172V,Missense_L172V,Missense_L172V exm544650 6 39285570 [A/G] NM_001135105,NM_032115,NM_001135107,NM_001135106 KCNK16,KCNK16,KCNK16,KCNK16 EXON Missense_R163C,Missense_R163C,Missense_R163C,Missense_R163C exm544652 6 39285578 [T/C] NM_001135105,NM_032115,NM_001135107,NM_001135106 KCNK16,KCNK16,KCNK16,KCNK16 EXON Missense_R160H,Missense_R160H,Missense_R160H,Missense_R160H exm544656 6 39285621 [T/C] NM_001135105,NM_032115,NM_001135107,NM_001135106 KCNK16,KCNK16,KCNK16,KCNK16 EXON Missense_G146R,Missense_G146R,Missense_G146R,Missense_G146R exm544657 6 39285648 [T/C] NM_001135105,NM_032115,NM_001135107,NM_001135106 KCNK16,KCNK16,KCNK16,KCNK16 EXON Missense_V137M,Missense_V137M,Missense_V137M,Missense_V137M exm544663 6 39286870 [T/C] NM_001135105,NM_032115,NM_001135107,NM_001135106 KCNK16,KCNK16,KCNK16,KCNK16 EXON Missense_G85S,Missense_G85S,Missense_G85S,Missense_G85S exm2270466 6 39297532 [T/C] exm544688 6 39311554 [T/C] NM_145027 KIF6 EXON Missense_G787R exm2125039 6 39311571 [A/G] NM_145027 KIF6 EXON Missense_S781L exm2276871 6 39325072 [A/G] NM_145027 KIF6 EXON Nonsense_Q721X exm544702 6 39328259 [T/C] NM_145027 KIF6 EXON Missense_E665G exm544704 6 39328286 [T/C] NM_145027 KIF6 EXON Missense_R656H exm544715 6 39353422 [A/G] NM_145027 KIF6 EXON Missense_R613W exm544720 6 39398931 [T/C] NM_145027 KIF6 EXON Missense_R551K exm544722 6 39507812 [G/C] NM_145027 KIF6 EXON Missense_G538R exm2276916 6 39507857 [A/G] NM_145027 KIF6 EXON Nonsense_R523X exm544725 6 39507860 [T/A] NM_145027 KIF6 EXON Missense_M522L exm544728 6 39507889 [T/C] NM_145027 KIF6 EXON Missense_R512H exm544730 6 39507896 [A/G] NM_145027 KIF6 EXON Missense_P510S exm544731 6 39507949 [T/G] NM_145027 KIF6 EXON Missense_A492D exm544733 6 39507994 [A/G] NM_145027 KIF6 EXON Missense_I477T exm2274151 6 39512337 [T/C] NM_145027 KIF6 EXON Missense_E474K exm544740 6 39513399 [A/G] NM_145027 KIF6 EXON Missense_A416V exm-rs4714261 6 39539207 [T/C] NM_145027 KIF6 Silent exm544749 6 39545926 [A/G] NM_145027 KIF6 EXON Missense_R363C exm544753 6 39552692 [T/G] NM_145027 KIF6 EXON Missense_E353D exm544757 6 39552730 [A/G] NM_145027 KIF6 EXON Nonsense_R341X exm544763 6 39554126 [T/C] NM_145027 KIF6 EXON Missense_M301V exm544779 6 39564011 [T/C] NM_145027 KIF6 EXON Missense_R222H exm544787 6 39581030 [T/C] NM_145027 KIF6 EXON Missense_A192T exm544798 6 39607447 [T/C] NM_145027 KIF6 EXON Missense_R113H exm544800 6 39607456 [C/G] NM_145027 KIF6 EXON Missense_G110A exm544803 6 39607534 [T/C] NM_145027 KIF6 Silent exm544806 6 39682502 [T/C] NM_145027 KIF6 EXON Missense_V73I exm544807 6 39682532 [T/C] NM_145027 KIF6 EXON Missense_I63V exm544812 6 39688551 [T/C] NM_145027 KIF6 EXON Missense_S35G exm544815 6 39693021 [T/C] NM_145027 KIF6 EXON Synonymous_G22G exm2264168 6 39699399 [A/C] exm-rs2395730 6 39784365 [A/C] NM_001201427,NM_015345 DAAM2,DAAM2 Silent,Silent exm2266304 6 39788496 [A/G] NM_001201427,NM_015345 DAAM2,DAAM2 Silent,Silent exm2264169 6 39814409 [A/C] NM_001201427,NM_015345 DAAM2,DAAM2 Silent,Silent exm544828 6 39824130 [A/G] NM_001201427,NM_015345 DAAM2,DAAM2 EXON Missense_G18R,Missense_G18R exm544831 6 39824161 [A/G] NM_001201427,NM_015345 DAAM2,DAAM2 EXON Missense_R28Q,Missense_R28Q exm2125114 6 39828777 [A/G] NM_001201427,NM_015345 DAAM2,DAAM2 EXON Missense_Y81C,Missense_Y81C exm544840 6 39832264 [A/G] NM_001201427,NM_015345 DAAM2,DAAM2 EXON Missense_R105H,Missense_R105H exm544851 6 39835372 [A/G] NM_001201427,NM_015345 DAAM2,DAAM2 EXON Missense_R172H,Missense_R172H exm544856 6 39835590 [G/C] NM_001201427,NM_015345 DAAM2,DAAM2 EXON Missense_V245L,Missense_V245L exm544859 6 39836633 [A/G] NM_001201427,NM_015345 DAAM2,DAAM2 EXON Missense_R266Q,Missense_R266Q exm544868 6 39839308 [A/G] NM_001201427,NM_015345 DAAM2,DAAM2 EXON Missense_R335Q,Missense_R335Q exm544878 6 39843179 [T/G] NM_001201427,NM_015345 DAAM2,DAAM2 EXON Missense_D412E,Missense_D412E exm544882 6 39846016 [G/C] NM_001201427,NM_015345 DAAM2,DAAM2 EXON Missense_Q447E,Missense_Q447E exm544889 6 39846260 [T/C] NM_001201427,NM_015345 DAAM2,DAAM2 EXON Missense_R481W,Missense_R481W exm544903 6 39847126 [T/C] NM_001201427,NM_015345 DAAM2,DAAM2 EXON Missense_P573L,Missense_P573L exm544906 6 39847153 [A/C] NM_001201427,NM_015345 DAAM2,DAAM2 EXON Missense_P582H,Missense_P582H exm2275884 6 39847198 [A/G] NM_001201427,NM_015345 DAAM2,DAAM2 EXON Missense_R597H,Missense_R597H exm544909 6 39851742 [A/G] NM_001201427,NM_015345 DAAM2,DAAM2 EXON Missense_R617H,Missense_R617H exm544913 6 39851789 [T/C] NM_001201427,NM_015345 DAAM2,DAAM2 EXON Missense_R633W,Missense_R633W exm544924 6 39856489 [A/G] NM_001201427,NM_015345 DAAM2,DAAM2 EXON Missense_I699V,Missense_I699V exm544928 6 39859415 [A/G] NM_001201427,NM_015345 DAAM2,DAAM2 EXON Missense_D753G,Missense_D753G exm544931 6 39859484 [A/C] NM_001201427,NM_015345 DAAM2,DAAM2 EXON Missense_K776T,Missense_K776T exm544932 6 39864605 [T/C] NM_001201427,NM_015345 DAAM2,DAAM2 EXON Missense_R787W,Missense_R787W exm544935 6 39864626 [A/C] NM_001201427,NM_015345 DAAM2,DAAM2 EXON Missense_R794S,Missense_R794S exm544937 6 39864686 [T/C] NM_001201427,NM_015345 DAAM2,DAAM2 EXON Missense_R814C,Missense_R814C exm544940 6 39864952 [A/C] NM_001201427,NM_015345 DAAM2,DAAM2 EXON Missense_N838H,Missense_N838H exm544941 6 39865007 [T/C] NM_001201427,NM_015345 DAAM2,DAAM2 EXON Missense_I856T,Missense_I856T exm544951 6 39867968 [A/G] NM_001201427,NM_015345 DAAM2,DAAM2 EXON Missense_N932S,Missense_N931S exm544969 6 39869614 [A/G] NM_001201427,NM_015345 DAAM2,DAAM2 EXON Missense_R1003Q,Missense_R1002Q exm544972 6 39869653 [T/C] NM_001201427,NM_015345 DAAM2,DAAM2 EXON Missense_S1016L,Missense_S1015L exm544975 6 39869689 [T/C] NM_001201427,NM_015345 DAAM2,DAAM2 EXON Missense_S1028L,Missense_S1027L exm544980 6 39869752 [A/G] NM_001201427,NM_015345 DAAM2,DAAM2 EXON Missense_R1049Q,Missense_R1048Q exm545026 6 39876849 [G/C] NM_005943,NM_001075098,NR_033233 MOCS1,MOCS1,MOCS1 EXON Missense_R378G,Missense_R378G,Silent exm545030 6 39877617 [A/G] NM_005943,NM_001075098,NR_033233 MOCS1,MOCS1,MOCS1 EXON Missense_I355T,Missense_I355T,Silent exm545032 6 39877665 [T/C] NM_005943,NM_001075098,NR_033233 MOCS1,MOCS1,MOCS1 EXON Missense_R339Q,Missense_R339Q,Silent exm545033 6 39877666 [A/G] NM_005943,NM_001075098,NR_033233 MOCS1,MOCS1,MOCS1 EXON Missense_R339W,Missense_R339W,Silent exm545041 6 39880653 [T/C] NM_005943,NM_001075098,NR_033233 MOCS1,MOCS1,MOCS1 EXON Missense_E285K,Missense_E285K,Silent exm545044 6 39880692 [A/G] NM_005943,NM_001075098,NR_033233 MOCS1,MOCS1,MOCS1 EXON Missense_R272W,Missense_R272W,Silent exm545049 6 39881102 [T/A] NM_005943,NM_001075098,NR_033233 MOCS1,MOCS1,MOCS1 EXON Missense_L239H,Missense_L239H,Silent exm545051 6 39881120 [A/G] NM_005943,NM_001075098,NR_033233 MOCS1,MOCS1,MOCS1 EXON Missense_A233V,Missense_A233V,Silent exm545053 6 39881172 [T/C] NM_005943,NM_001075098,NR_033233 MOCS1,MOCS1,MOCS1 EXON Missense_V216M,Missense_V216M,Silent exm545069 6 39883875 [T/C] NM_005943,NM_001075098,NR_033233 MOCS1,MOCS1,MOCS1 EXON Missense_A174T,Missense_A174T,Silent exm545074 6 39883940 [T/C] NM_005943,NM_001075098,NR_033233 MOCS1,MOCS1,MOCS1 EXON Missense_G152D,Missense_G152D,Silent exm545079 6 39893421 [T/C] NM_005943,NM_001075098,NR_033233 MOCS1,MOCS1,MOCS1 Silent,Silent,Silent exm545081 6 39893442 [A/G] NM_005943,NM_001075098,NR_033233 MOCS1,MOCS1,MOCS1 EXON Missense_P133L,Missense_P133L,Silent exm2257797 6 39893558 [T/C] NM_005943,NM_001075098,NR_033233 MOCS1,MOCS1,MOCS1 EXON Synonymous_P94P,Synonymous_P94P,Silent exm545095 6 39893576 [T/C] NM_005943,NM_001075098,NR_033233 MOCS1,MOCS1,MOCS1 EXON Missense_M88I,Missense_M88I,Silent exm545100 6 39895101 [A/G] NM_005943,NM_001075098,NR_033233 MOCS1,MOCS1,MOCS1 EXON Missense_R73W,Missense_R73W,Silent exm545102 6 39895122 [T/C] NM_005943,NM_001075098,NR_033233 MOCS1,MOCS1,MOCS1 EXON Missense_G66S,Missense_G66S,Silent exm545109 6 39895263 [T/C] NM_005943,NM_001075098,NR_033233 MOCS1,MOCS1,MOCS1 EXON Missense_G19S,Silent,Silent exm545113 6 39895290 [A/C] NM_005943,NM_001075098,NR_033233 MOCS1,MOCS1,MOCS1 EXON Missense_D10Y,Silent,Silent exm545114 6 39895312 [A/C] NM_005943,NM_001075098,NR_033233 MOCS1,MOCS1,MOCS1 EXON Missense_W2C,Silent,Silent exm-rs6458154 6 40354006 [A/G] exm545123 6 40359723 [T/C] NM_020737 LRFN2 EXON Missense_T777A exm545124 6 40359728 [T/C] NM_020737 LRFN2 EXON Missense_R775Q exm545126 6 40359744 [T/C] NM_020737 LRFN2 EXON Missense_D770N exm2274152 6 40359816 [A/G] NM_020737 LRFN2 EXON Missense_R746W exm545132 6 40359840 [T/C] NM_020737 LRFN2 EXON Missense_V738M exm545151 6 40360200 [A/C] NM_020737 LRFN2 EXON Missense_A618S exm545154 6 40360211 [A/C] NM_020737 LRFN2 EXON Missense_S614I exm545155 6 40360214 [A/G] NM_020737 LRFN2 EXON Missense_A613V exm545156 6 40360217 [A/G] NM_020737 LRFN2 EXON Missense_T612I exm545160 6 40360265 [A/G] NM_020737 LRFN2 EXON Missense_P596L exm545167 6 40360343 [A/G] NM_020737 LRFN2 EXON Missense_A570V exm545196 6 40399690 [T/C] NM_020737 LRFN2 EXON Missense_R388H exm545198 6 40399724 [T/C] NM_020737 LRFN2 EXON Missense_V377I exm545199 6 40399765 [T/C] NM_020737 LRFN2 EXON Missense_N363S exm545202 6 40399820 [T/C] NM_020737 LRFN2 EXON Missense_D345N exm545206 6 40399877 [T/C] NM_020737 LRFN2 EXON Missense_D326N exm2125238 6 40400056 [A/C] NM_020737 LRFN2 EXON Missense_G266V exm545219 6 40400080 [T/C] NM_020737 LRFN2 EXON Missense_R258Q exm545221 6 40400119 [T/C] NM_020737 LRFN2 EXON Missense_H245R exm545225 6 40400171 [T/C] NM_020737 LRFN2 EXON Missense_A228T exm545229 6 40400195 [A/G] NM_020737 LRFN2 EXON Missense_R220C exm545232 6 40400288 [T/C] NM_020737 LRFN2 EXON Missense_A189T exm2257799 6 40400688 [A/C] NM_020737 LRFN2 EXON Synonymous_V55V exm2266183 6 40546850 [A/G] NM_020737 LRFN2 Silent exm-rs10484761 6 40802261 [T/C] exm2270314 6 40921160 [T/C] exm545269 6 40996173 [C/G] NM_173561 UNC5CL EXON Missense_P499R exm545277 6 40998157 [A/G] NM_173561 UNC5CL EXON Missense_S435F exm545278 6 40998167 [T/C] NM_173561 UNC5CL EXON Missense_R432G exm545280 6 40998223 [A/G] NM_173561 UNC5CL EXON Missense_F413S exm545286 6 40998481 [T/C] NM_173561 UNC5CL EXON Missense_K378R exm545288 6 40999437 [T/C] NM_173561 UNC5CL EXON Missense_M368V exm545290 6 40999454 [T/C] NM_173561 UNC5CL EXON Missense_N362S exm545294 6 40999802 [A/G] NM_173561 UNC5CL EXON Missense_R342C exm545297 6 41000638 [T/C] NM_173561 UNC5CL EXON Missense_T312A exm545307 6 41000790 [A/G] NM_173561 UNC5CL EXON Missense_S261F exm545317 6 41001644 [G/C] NM_173561 UNC5CL EXON Missense_C221S exm545320 6 41001660 [T/C] NM_173561 UNC5CL EXON Missense_A216T exm545321 6 41001675 [A/G] NM_173561 UNC5CL EXON Missense_R211W exm545327 6 41001731 [T/C] NM_173561 UNC5CL EXON Missense_R192H exm545334 6 41001868 [T/G] NM_173561 UNC5CL EXON Missense_D146E exm2125325 6 41002458 [T/C] NM_173561 UNC5CL EXON Missense_D119G exm545353 6 41010736 [A/T] NM_001010873,NM_001159726 TSPO2,TSPO2 EXON Missense_Q4H,Missense_Q4H exm545356 6 41010795 [A/G] NM_001010873,NM_001159726 TSPO2,TSPO2 EXON Missense_R24H,Missense_R24H exm545363 6 41011370 [A/G] NM_001010873,NM_001159726 TSPO2,TSPO2 EXON Missense_Y83C,Missense_Y83C exm545364 6 41011375 [G/C] NM_001010873,NM_001159726 TSPO2,TSPO2 EXON Missense_V85L,Missense_V85L exm545371 6 41021108 [A/G] NM_006789 APOBEC2 EXON Missense_A8T exm545373 6 41021120 [A/G] NM_006789 APOBEC2 EXON Missense_E12K exm545374 6 41021138 [A/G] NM_006789 APOBEC2 EXON Missense_G18R exm545382 6 41029085 [G/C] NM_006789 APOBEC2 EXON Missense_N50K exm545390 6 41029219 [T/C] NM_006789 APOBEC2 EXON Missense_A95V exm545391 6 41029294 [A/C] NM_006789 APOBEC2 EXON Missense_T120N exm545395 6 41029342 [T/C] NM_006789 APOBEC2 EXON Missense_I136T exm2125351 6 41029462 [T/C] NM_006789 APOBEC2 EXON Missense_L176P exm545403 6 41029530 [T/C] NM_006789 APOBEC2 EXON Missense_S199P exm545410 6 41035176 [A/C] NM_145063 OARD1 EXON Missense_R119S exm545411 6 41036579 [C/G] NM_145063 OARD1 Silent exm545415 6 41037832 [A/G] NM_145063 OARD1 EXON Nonsense_R76X exm545430 6 41039015 [T/C] NM_145063 OARD1 EXON Missense_I14V exm545445 6 41057950 [A/C] NM_002505,NM_021705 NFYA,NFYA EXON Missense_Q150P,Missense_Q121P exm2125375 6 41062230 [T/G] NM_002505,NM_021705 NFYA,NFYA EXON Missense_H328Q,Missense_H299Q exm545458 6 41065096 [A/G] NM_002505,NM_021705 NFYA,NFYA EXON Missense_D331N,Missense_D302N exm545466 6 41117439 [C/G] NM_178174,NM_001271808,NM_001271807 TREML1,TREML1,TREML1 EXON Missense_T280R,Missense_T169R,Silent exm545469 6 41117586 [T/G] NM_178174,NM_001271808,NM_001271807 TREML1,TREML1,TREML1 EXON Missense_H231P,Missense_H120P,Silent exm545471 6 41117594 [T/A] NM_178174,NM_001271808,NM_001271807 TREML1,TREML1,TREML1 EXON Missense_D228E,Missense_D117E,Silent exm2125385 6 41117998 [A/C] NM_178174,NM_001271808,NM_001271807 TREML1,TREML1,TREML1 Silent,Silent,Silent exm545477 6 41118000 [A/G] NM_178174,NM_001271808,NM_001271807 TREML1,TREML1,TREML1 EXON Missense_M207T,Missense_M96T,Silent exm545482 6 41118614 [T/C] NM_178174,NM_001271808,NM_001271807 TREML1,TREML1,TREML1 EXON Missense_V171I,Missense_V60I,Missense_V171I exm545497 6 41121784 [T/C] NM_178174,NM_001271808,NM_001271807 TREML1,TREML1,TREML1 EXON Missense_V30M,Silent,Missense_V30M exm545500 6 41121996 [C/G] NM_178174,NM_001271808,NM_001271807 TREML1,TREML1,TREML1 EXON Missense_L11V,Missense_L11V,Missense_L11V exm545507 6 41126619 [A/G] NM_001271821,NM_018965 TREM2,TREM2 EXON Silent,Missense_T223I exm545508 6 41126655 [A/G] NM_001271821,NM_018965 TREM2,TREM2 EXON Silent,Missense_L211P exm545509 6 41126713 [T/C] NM_001271821,NM_018965 TREM2,TREM2 EXON Silent,Missense_A192T exm545513 6 41127543 [A/G] NM_001271821,NM_018965 TREM2,TREM2 EXON Missense_H157Y,Missense_H157Y exm545514 6 41127561 [T/C] NM_001271821,NM_018965 TREM2,TREM2 EXON Missense_E151K,Missense_E151K exm545517 6 41127605 [T/C] NM_001271821,NM_018965 TREM2,TREM2 EXON Missense_R136Q,Missense_R136Q exm545519 6 41127619 [A/G] NM_001271821,NM_018965 TREM2,TREM2 EXON Synonymous_D131D,Synonymous_D131D exm545521 6 41129078 [A/G] NM_001271821,NM_018965 TREM2,TREM2 EXON Missense_A105V,Missense_A105V exm545524 6 41129133 [T/C] NM_001271821,NM_018965 TREM2,TREM2 EXON Missense_D87N,Missense_D87N exm545527 6 41129207 [T/C] NM_001271821,NM_018965 TREM2,TREM2 EXON Missense_R62H,Missense_R62H exm545529 6 41129252 [T/C] NM_001271821,NM_018965 TREM2,TREM2 EXON Missense_R47H,Missense_R47H exm545530 6 41129275 [G/C] NM_001271821,NM_018965 TREM2,TREM2 EXON Missense_D39E,Missense_D39E exm545532 6 41129309 [A/G] NM_001271821,NM_018965 TREM2,TREM2 EXON Missense_A28V,Missense_A28V exm545545 6 41160572 [T/C] NM_024807 TREML2 EXON Missense_V285I exm545551 6 41162204 [T/G] NM_024807 TREML2 EXON Missense_S248R exm2257802 6 41162309 [T/C] NM_024807 TREML2 EXON Synonymous_A213A exm545554 6 41162310 [A/G] NM_024807 TREML2 EXON Missense_A213V exm545558 6 41162371 [T/C] NM_024807 TREML2 EXON Missense_T193A exm545563 6 41162562 [G/C] NM_024807 TREML2 EXON Missense_T129S exm545565 6 41162566 [T/G] NM_024807 TREML2 EXON Missense_Q128K exm545584 6 41166063 [A/C] NM_024807 TREML2 EXON Missense_V54F exm545588 6 41166098 [A/G] NM_024807 TREML2 EXON Missense_S42F exm545598 6 41166155 [T/C] NM_024807 TREML2 EXON Missense_D23G exm545619 6 41196169 [T/G] NM_198153 TREML4 EXON Missense_A2S exm545622 6 41196226 [T/C] NM_198153 TREML4 EXON Nonsense_Q21X exm2125447 6 41196492 [A/C] NM_198153 TREML4 EXON Missense_T35N exm545625 6 41196531 [T/C] NM_198153 TREML4 EXON Missense_P48L exm545628 6 41196605 [T/C] NM_198153 TREML4 EXON Missense_W73R exm545633 6 41196674 [A/G] NM_198153 TREML4 EXON Missense_M96V exm2125448 6 41197268 [T/C] NM_198153 TREML4 EXON Missense_T135M exm545643 6 41197271 [T/C] NM_198153 TREML4 EXON Missense_S136F exm545645 6 41197301 [A/C] NM_198153 TREML4 EXON Missense_T146K exm545654 6 41197857 [T/C] NM_198153 TREML4 EXON Missense_T168I exm545664 6 41243926 [G/C] NM_001242590,NM_018643 TREM1,TREM1 EXON Missense_S150C,Missense_F214L exm545682 6 41250135 [T/G] NM_001242590,NM_018643,NM_001242589 TREM1,TREM1,TREM1 EXON Missense_K135T,Missense_K135T,Missense_K135T exm545690 6 41250249 [T/C] NM_001242590,NM_018643,NM_001242589 TREM1,TREM1,TREM1 EXON Missense_R97H,Missense_R97H,Missense_R97H exm545691 6 41250250 [A/G] NM_001242590,NM_018643,NM_001242589 TREM1,TREM1,TREM1 EXON Missense_R97C,Missense_R97C,Missense_R97C exm545694 6 41250265 [C/G] NM_001242590,NM_018643,NM_001242589 TREM1,TREM1,TREM1 EXON Missense_D92H,Missense_D92H,Missense_D92H exm545700 6 41250350 [A/C] NM_001242590,NM_018643,NM_001242589 TREM1,TREM1,TREM1 EXON Missense_M63I,Missense_M63I,Missense_M63I exm545703 6 41250462 [T/C] NM_001242590,NM_018643,NM_001242589 TREM1,TREM1,TREM1 EXON Missense_E26G,Missense_E26G,Missense_E26G exm545704 6 41250466 [T/A] NM_001242590,NM_018643,NM_001242589 TREM1,TREM1,TREM1 EXON Missense_T25S,Missense_T25S,Missense_T25S exm545715 6 41303831 [A/G] NM_004828,NM_001199509,NM_001199510 NCR2,NCR2,NCR2 EXON Missense_Q20R,Missense_Q20R,Missense_Q20R exm545717 6 41303863 [A/G] NM_004828,NM_001199509,NM_001199510 NCR2,NCR2,NCR2 EXON Missense_V31M,Missense_V31M,Missense_V31M exm545723 6 41303993 [T/C] NM_004828,NM_001199509,NM_001199510 NCR2,NCR2,NCR2 EXON Missense_T74M,Missense_T74M,Missense_T74M exm545724 6 41303995 [A/G] NM_004828,NM_001199509,NM_001199510 NCR2,NCR2,NCR2 EXON Missense_M75V,Missense_M75V,Missense_M75V exm545730 6 41304139 [A/G] NM_004828,NM_001199509,NM_001199510 NCR2,NCR2,NCR2 EXON Missense_V123I,Missense_V123I,Missense_V123I exm545740 6 41309552 [T/C] NM_004828,NM_001199509,NM_001199510 NCR2,NCR2,NCR2 EXON Missense_S139P,Missense_S139P,Missense_S139P exm545742 6 41309565 [A/G] NM_004828,NM_001199509,NM_001199510 NCR2,NCR2,NCR2 EXON Missense_R143H,Missense_R143H,Missense_R143H exm545745 6 41309618 [A/G] NM_004828,NM_001199509,NM_001199510 NCR2,NCR2,NCR2 EXON Missense_G161R,Missense_G161R,Missense_G161R exm545746 6 41309625 [G/C] NM_004828,NM_001199509,NM_001199510 NCR2,NCR2,NCR2 EXON Missense_R163T,Missense_R163T,Missense_R163T exm545751 6 41309788 [T/C] NM_004828,NM_001199509,NM_001199510 NCR2,NCR2,NCR2 EXON Missense_T182M,Missense_T194M,Missense_T182M exm545755 6 41309847 [A/G] NM_004828,NM_001199509,NM_001199510 NCR2,NCR2,NCR2 EXON Missense_V202I,Missense_V214I,Missense_V202I exm545759 6 41310705 [T/C] NM_004828,NM_001199509,NM_001199510 NCR2,NCR2,NCR2 EXON Silent,Missense_P244S,Missense_P232S exm545762 6 41318424 [T/A] NM_004828,NM_001199509,NM_001199510 NCR2,NCR2,NCR2 EXON Missense_I218K,Missense_Y266N,Missense_Y254N exm545763 6 41318438 [A/G] NM_004828,NM_001199509,NM_001199510 NCR2,NCR2,NCR2 EXON Missense_M223V,Synonymous_P270P,Synonymous_P258P exm2257804 6 41318587 [T/C] NM_004828,NM_001199509,NM_001199510 NCR2,NCR2,NCR2 EXON Synonymous_D272D,Silent,Silent exm545777 6 41318587 [T/C] NM_004828,NM_001199509,NM_001199510 NCR2,NCR2,NCR2 EXON Synonymous_D272D,Silent,Silent exm2270315 6 41467860 [T/G] exm545782 6 41533556 [A/G] NM_138457,NM_001012427,NM_001012426 FOXP4,FOXP4,FOXP4 EXON Missense_V20M,Missense_V20M,Missense_V20M exm545791 6 41533595 [A/G] NM_138457,NM_001012427,NM_001012426 FOXP4,FOXP4,FOXP4 EXON Missense_G33R,Missense_G33R,Missense_G33R exm545794 6 41533628 [A/G] NM_138457,NM_001012427,NM_001012426 FOXP4,FOXP4,FOXP4 EXON Missense_R44G,Missense_R44G,Missense_R44G exm-rs1983891 6 41536427 [T/C] NM_138457,NM_001012427,NM_001012426 FOXP4,FOXP4,FOXP4 Silent,Silent,Silent exm2125532 6 41553242 [A/C] NM_138457,NM_001012427,NM_001012426 FOXP4,FOXP4,FOXP4 EXON Missense_P166Q,Missense_P164Q,Missense_P166Q exm2125544 6 41555090 [A/G] NM_138457,NM_001012427,NM_001012426 FOXP4,FOXP4,FOXP4 EXON Missense_G237R,Missense_G236R,Missense_G238R exm545835 6 41555240 [T/C] NM_138457,NM_001012427,NM_001012426 FOXP4,FOXP4,FOXP4 EXON Missense_R287W,Missense_R286W,Missense_R288W exm2125551 6 41557567 [T/C] NM_138457,NM_001012427,NM_001012426 FOXP4,FOXP4,FOXP4 EXON Missense_S374L,Missense_S373L,Missense_S375L exm545848 6 41557708 [T/C] NM_138457,NM_001012427,NM_001012426 FOXP4,FOXP4,FOXP4 EXON Silent,Missense_P384L,Missense_P386L exm545852 6 41557743 [A/G] NM_138457,NM_001012427,NM_001012426 FOXP4,FOXP4,FOXP4 EXON Missense_V385I,Missense_V396I,Missense_V398I exm545909 6 41617402 [A/C] NM_005586 MDFI EXON Missense_N102T exm545913 6 41617441 [A/G] NM_005586 MDFI EXON Missense_R115Q exm545920 6 41617480 [A/G] NM_005586 MDFI EXON Missense_R128Q exm545935 6 41621203 [A/G] NM_005586 MDFI EXON Missense_D211N exm-rs2143678 6 41623033 [T/G] exm-rs2842643 6 41650736 [T/C] exm545946 6 41652493 [T/G] NM_007162,NM_001271945,NM_001271944,NM_001271943,NM_001167827 TFEB,TFEB,TFEB,TFEB,TFEB EXON Missense_F425L,Missense_F425L,Missense_F425L,Missense_F340L,Missense_F439L exm2125590 6 41652540 [T/G] NM_007162,NM_001271945,NM_001271944,NM_001271943,NM_001167827 TFEB,TFEB,TFEB,TFEB,TFEB EXON Missense_P410T,Missense_P410T,Missense_P410T,Missense_P325T,Missense_P424T exm545951 6 41652566 [T/C] NM_007162,NM_001271945,NM_001271944,NM_001271943,NM_001167827 TFEB,TFEB,TFEB,TFEB,TFEB EXON Missense_S401N,Missense_S401N,Missense_S401N,Missense_S316N,Missense_S415N exm545967 6 41655542 [T/C] NM_007162,NM_001271945,NM_001271944,NM_001271943,NM_001167827 TFEB,TFEB,TFEB,TFEB,TFEB EXON Missense_E226K,Missense_E226K,Missense_E226K,Missense_E141K,Missense_E240K exm545986 6 41658508 [T/C] NM_007162,NM_001271945,NM_001271944,NM_001271943,NM_001167827 TFEB,TFEB,TFEB,TFEB,TFEB EXON Missense_A121T,Missense_A121T,Missense_A121T,Silent,Missense_A135T exm546000 6 41658832 [G/C] NM_007162,NM_001271945,NM_001271944,NM_001271943,NM_001167827 TFEB,TFEB,TFEB,TFEB,TFEB EXON Missense_Q40H,Missense_Q40H,Missense_Q40H,Missense_Q40H,Missense_Q54H exm2266184 6 41681787 [A/G] NM_007162,NM_001271945,NM_001271944,NM_001271943,NM_001167827 TFEB,TFEB,TFEB,TFEB,TFEB Silent,Silent,Silent,Silent,Silent exm2257805 6 41704626 [T/C] NM_002630 PGC EXON Synonymous_L377L exm546014 6 41704655 [A/G] NM_002630 PGC EXON Missense_L368F exm546016 6 41704731 [T/G] NM_002630 PGC EXON Nonsense_Y342X exm546017 6 41704735 [A/C] NM_002630 PGC EXON Missense_G341V exm546018 6 41704743 [T/C] NM_002630 PGC Silent exm546033 6 41707672 [A/G] NM_002630 PGC EXON Synonymous_G260G exm2257806 6 41707672 [A/G] NM_002630 PGC EXON Synonymous_G260G exm546036 6 41708238 [T/C] NM_002630 PGC EXON Missense_G253D exm546048 6 41710041 [T/C] NM_002630,NM_001166424 PGC,PGC EXON Missense_V212I,Missense_V212I exm546049 6 41710050 [T/C] NM_002630,NM_001166424 PGC,PGC EXON Missense_V209I,Missense_V209I exm546061 6 41711049 [G/C] NM_002630,NM_001166424 PGC,PGC EXON Missense_S136T,Missense_S136T exm546063 6 41711064 [A/G] NM_002630,NM_001166424 PGC,PGC EXON Missense_S131F,Missense_S131F exm546066 6 41712133 [A/G] NM_002630,NM_001166424 PGC,PGC Silent,Silent exm546072 6 41712443 [A/G] NM_002630,NM_001166424 PGC,PGC EXON Missense_R55C,Missense_R55C exm546089 6 41738398 [T/C] NM_006653 FRS3 EXON Missense_A480T exm2257807 6 41738615 [T/C] NM_006653 FRS3 EXON Synonymous_P407P exm546119 6 41738845 [A/C] NM_006653 FRS3 EXON Missense_V331L exm546124 6 41738889 [T/C] NM_006653 FRS3 EXON Missense_R316Q exm546125 6 41738892 [T/C] NM_006653 FRS3 EXON Missense_R315H exm546126 6 41738895 [T/C] NM_006653 FRS3 EXON Missense_H314R exm2125645 6 41738958 [T/C] NM_006653 FRS3 EXON Missense_G293E exm2125646 6 41739088 [A/G] NM_006653 FRS3 EXON Missense_R250W exm546145 6 41739151 [A/G] NM_006653 FRS3 EXON Missense_R229W exm546146 6 41739160 [T/G] NM_006653 FRS3 EXON Missense_P226T exm546156 6 41739603 [A/G] NM_006653 FRS3 EXON Missense_P172L exm546159 6 41739633 [T/C] NM_006653 FRS3 EXON Missense_R162Q exm2274153 6 41739634 [A/G] NM_006653 FRS3 EXON Missense_R162W exm546160 6 41739642 [A/G] NM_006653 FRS3 EXON Missense_S159L exm2125656 6 41740541 [C/G] NM_006653 FRS3 EXON Missense_P137R exm546164 6 41740575 [T/C] NM_006653 FRS3 EXON Missense_A126T exm546166 6 41740596 [T/C] NM_006653 FRS3 EXON Missense_I119V exm546169 6 41740655 [T/C] NM_006653 FRS3 EXON Missense_N99S exm546170 6 41740658 [A/C] NM_006653 FRS3 EXON Missense_F98C exm546175 6 41743244 [A/G] NM_006653 FRS3 EXON Missense_R56C exm546181 6 41751219 [T/G] NM_013397 PRICKLE4 EXON Missense_V3G exm546192 6 41751900 [T/G] NM_013397 PRICKLE4 EXON Missense_C55F exm2125673 6 41752706 [T/C] NM_013397 PRICKLE4 EXON Missense_R92W exm546199 6 41752707 [A/G] NM_013397 PRICKLE4 EXON Missense_R92Q exm546201 6 41752712 [A/G] NM_013397 PRICKLE4 EXON Missense_E94K exm546204 6 41752730 [A/G] NM_013397 PRICKLE4 EXON Missense_A100T exm546208 6 41752770 [A/G] NM_013397 PRICKLE4 EXON Missense_R113H exm546216 6 41753105 [C/G] NM_013397 PRICKLE4 EXON Missense_G137R exm546217 6 41753136 [A/G] NM_013397 PRICKLE4 EXON Missense_R147H exm546221 6 41753252 [T/C] NM_013397 PRICKLE4 EXON Missense_R186C exm546228 6 41753915 [A/G] NM_013397 PRICKLE4 EXON Missense_E211G exm546233 6 41754013 [C/G] NM_013397 PRICKLE4 EXON Missense_R244G exm546241 6 41754634 [T/C] NM_013397 PRICKLE4 EXON Nonsense_Q308X exm546247 6 41754718 [A/G] NM_013397 PRICKLE4 EXON Missense_D336N exm546256 6 41766425 [T/G] NM_018561 USP49 EXON Missense_E638A exm546260 6 41766441 [T/C] NM_018561 USP49 EXON Missense_G633R exm2125698 6 41773726 [C/G] NM_018561 USP49 EXON Missense_W332C exm546296 6 41773728 [A/G] NM_018561 USP49 EXON Missense_W332R exm546318 6 41774255 [T/C] NM_018561 USP49 EXON Missense_R156Q exm546322 6 41774340 [T/G] NM_018561 USP49 EXON Missense_L128M exm546325 6 41774385 [T/G] NM_018561 USP49 EXON Missense_R113S exm546329 6 41774562 [T/C] NM_018561 USP49 EXON Missense_A54T exm546330 6 41774568 [T/C] NM_018561 USP49 EXON Missense_D52N exm546336 6 41774685 [G/C] NM_018561 USP49 EXON Missense_A13P exm546340 6 41874815 [A/G] NM_004275 MED20 EXON Missense_R212C exm2275887 6 41884544 [A/C] NM_004275 MED20 EXON Missense_A50S exm546387 6 41889323 [A/G] NM_004053 BYSL EXON Missense_R8H exm546392 6 41889383 [A/C] NM_004053 BYSL EXON Missense_A28E exm546398 6 41889505 [T/C] NM_004053 BYSL EXON Missense_L69F exm546402 6 41889553 [T/C] NM_004053 BYSL EXON Missense_R85C exm546405 6 41895193 [T/C] NM_004053 BYSL EXON Missense_A117V exm546415 6 41898380 [T/C] NM_004053 BYSL EXON Missense_S193F exm546421 6 41899163 [T/C] NM_004053 BYSL EXON Missense_M245T exm546422 6 41899165 [A/G] NM_004053 BYSL EXON Missense_A246T exm546436 6 41900233 [A/G] NM_004053 BYSL EXON Missense_R368Q exm546444 6 41900406 [T/C] NM_004053 BYSL EXON Missense_P426S exm546447 6 41900410 [A/G] NM_004053 BYSL EXON Missense_R427H exm546454 6 41903746 [A/G] NM_001136126,NM_001136125,NM_001760,NM_001136017 CCND3,CCND3,CCND3,CCND3 EXON Missense_R75W,Missense_R199W,Missense_R271W,Missense_R190W exm546460 6 41903798 [A/C] NM_001136126,NM_001136125,NM_001760,NM_001136017 CCND3,CCND3,CCND3,CCND3 EXON Missense_E57D,Missense_E181D,Missense_E253D,Missense_E172D exm546474 6 41905047 [T/C] NM_001136126,NM_001136125,NM_001760,NM_001136017 CCND3,CCND3,CCND3,CCND3 EXON Silent,Missense_R95Q,Missense_R167Q,Missense_R86Q exm-rs3218097 6 41905275 [A/G] NM_001136126,NM_001136125,NM_001760,NM_001136017 CCND3,CCND3,CCND3,CCND3 Silent,Silent,Silent,Silent exm546477 6 41908122 [A/G] NM_001136126,NM_001136125,NM_001760,NM_001136017 CCND3,CCND3,CCND3,CCND3 EXON Silent,Silent,Missense_P134S,Missense_P53S exm-rs9349205 6 41925159 [A/G] NM_001136126,NM_001136017 CCND3,CCND3 Silent,Silent exm-rs11970772 6 41925290 [A/T] NM_001136126,NM_001136017 CCND3,CCND3 Silent,Silent exm-rs11968166 6 41925304 [A/G] NM_001136126,NM_001136017 CCND3,CCND3 Silent,Silent exm546507 6 42018308 [T/C] NM_138572 TAF8 EXON Missense_A10V exm546533 6 42025210 [T/G] NM_138572 TAF8 EXON Missense_F150V exm546534 6 42025214 [G/C] NM_138572 TAF8 EXON Missense_P151R exm546572 6 42072628 [C/G] NM_001164446 C6orf132 EXON Missense_R1008G exm546577 6 42072819 [A/G] NM_001164446 C6orf132 EXON Missense_V944A exm546584 6 42073031 [G/C] NM_001164446 C6orf132 EXON Missense_H873Q exm546597 6 42073603 [A/G] NM_001164446 C6orf132 EXON Missense_L683F exm546601 6 42073759 [A/G] NM_001164446 C6orf132 EXON Missense_L631F exm546604 6 42073987 [A/G] NM_001164446 C6orf132 EXON Missense_P555S exm546605 6 42074106 [A/G] NM_001164446 C6orf132 EXON Missense_L515P exm546611 6 42074371 [A/G] NM_001164446 C6orf132 EXON Missense_P427S exm546618 6 42074751 [T/C] NM_001164446 C6orf132 EXON Missense_R300H exm546619 6 42074752 [A/G] NM_001164446 C6orf132 EXON Missense_R300C exm546621 6 42074845 [T/C] NM_001164446 C6orf132 EXON Missense_A269T exm546623 6 42074872 [A/C] NM_001164446 C6orf132 EXON Missense_S260A exm546636 6 42096462 [T/G] NM_001164446 C6orf132 EXON Missense_A67D exm546641 6 42110133 [T/C] NM_001164446 C6orf132 EXON Missense_K17R exm546642 6 42110171 [G/C] NM_001164446 C6orf132 EXON Missense_K4N exm2266306 6 42141326 [A/G] NM_000409 GUCA1A EXON Silent exm546654 6 42141361 [A/G] NM_000409 GUCA1A EXON Missense_V4M exm546660 6 42141469 [T/C] NM_000409 GUCA1A EXON Missense_R40C exm546663 6 42141500 [T/C] NM_000409 GUCA1A EXON Missense_P50L exm546664 6 42141503 [T/C] NM_000409 GUCA1A EXON Missense_S51L exm546665 6 42141505 [A/G] NM_000409 GUCA1A EXON Missense_A52T exm546669 6 42146021 [T/G] NM_000409 GUCA1A EXON Missense_G69C exm546672 6 42146043 [A/G] NM_000409 GUCA1A EXON Missense_Y76C exm546676 6 42146612 [A/G] NM_000409 GUCA1A EXON Missense_K142E exm546690 6 42153428 [A/C] NM_002098 GUCA1B EXON Missense_E155D exm546694 6 42153507 [T/C] NM_002098 GUCA1B EXON Missense_R129Q exm546696 6 42153535 [A/C] NM_002098 GUCA1B EXON Nonsense_G120X exm546701 6 42156424 [T/C] NM_002098 GUCA1B EXON Missense_V85M exm546702 6 42162369 [T/C] NM_002098 GUCA1B EXON Missense_A64T exm546703 6 42162372 [A/G] NM_002098 GUCA1B EXON Nonsense_R63X exm546724 6 42176074 [A/G] NM_018141 MRPS10 EXON Missense_P187S exm546734 6 42176643 [A/C] NM_018141 MRPS10 EXON Missense_Y159D exm546740 6 42179526 [T/C] NM_018141 MRPS10 EXON Missense_I106V exm546745 6 42179649 [T/C] NM_018141 MRPS10 EXON Missense_I65V exm546747 6 42179652 [T/G] NM_018141 MRPS10 EXON Missense_T64P exm546754 6 42182017 [T/C] NM_018141 MRPS10 Silent exm546763 6 42185562 [A/G] NM_018141 MRPS10 EXON Missense_A9V exm2277323 6 42185567 [A/G] NM_018141 MRPS10 EXON Synonymous_F7F exm546767 6 42185569 [A/C] NM_018141 MRPS10 EXON Missense_F7V exm546772 6 42196094 [T/C] NM_033502 TRERF1 EXON Missense_A1198T exm546774 6 42196127 [T/C] NM_033502 TRERF1 EXON Missense_D1187N exm546783 6 42196239 [G/C] NM_033502 TRERF1 EXON Missense_Q1149H exm546797 6 42200452 [C/G] NM_033502 TRERF1 EXON Missense_P1082R exm546809 6 42203984 [T/G] NM_033502 TRERF1 EXON Missense_P1009T exm2270316 6 42220117 [T/G] NM_033502 TRERF1 Silent exm546833 6 42224546 [A/T] NM_033502 TRERF1 EXON Missense_C834S exm546834 6 42224569 [A/G] NM_033502 TRERF1 EXON Missense_V826A exm2275286 6 42224839 [A/G] NM_033502 TRERF1 EXON Missense_R780C exm546837 6 42225913 [T/C] NM_033502 TRERF1 EXON Missense_V766I exm546852 6 42227344 [A/T] NM_033502 TRERF1 EXON Missense_S668T exm546874 6 42231219 [T/C] NM_033502 TRERF1 EXON Missense_E575K exm546884 6 42231275 [G/C] NM_033502 TRERF1 EXON Missense_P556R exm546891 6 42232509 [T/C] NM_033502 TRERF1 EXON Missense_N523S exm546904 6 42236038 [T/C] NM_033502 TRERF1 EXON Missense_T431A exm546907 6 42236094 [T/C] NM_033502 TRERF1 EXON Missense_S412N exm546915 6 42236281 [A/G] NM_033502 TRERF1 EXON Missense_S350P exm546920 6 42236379 [T/C] NM_033502 TRERF1 EXON Missense_R317Q exm546927 6 42236442 [T/C] NM_033502 TRERF1 EXON Missense_R296H exm546933 6 42236514 [T/G] NM_033502 TRERF1 EXON Missense_P272Q exm546942 6 42236785 [A/G] NM_033502 TRERF1 EXON Missense_R182C exm546948 6 42236973 [T/C] NM_033502 TRERF1 EXON Missense_G119D exm2274155 6 42237036 [T/C] NM_033502 TRERF1 EXON Missense_R98H exm546949 6 42237037 [A/G] NM_033502 TRERF1 EXON Missense_R98C exm546950 6 42237070 [T/C] NM_033502 TRERF1 EXON Missense_S87G exm546951 6 42237105 [T/C] NM_033502 TRERF1 EXON Missense_G75D exm546952 6 42237124 [T/C] NM_033502 TRERF1 EXON Missense_V69I exm2125872 6 42237163 [T/G] NM_033502 TRERF1 EXON Missense_H56N exm546955 6 42237172 [T/C] NM_033502 TRERF1 EXON Missense_I53V exm546956 6 42237177 [A/G] NM_033502 TRERF1 EXON Missense_S51L exm-rs4714598 6 42282393 [A/G] NM_033502 TRERF1 Silent exm2270467 6 42399074 [T/C] NM_033502 TRERF1 Silent exm547027 6 42559926 [A/G] NM_001184801,NM_015255 UBR2,UBR2 EXON Missense_E126K,Missense_E126K exm547029 6 42562027 [T/A] NM_001184801,NM_015255 UBR2,UBR2 EXON Missense_E172D,Missense_E172D exm547030 6 42571338 [A/C] NM_001184801,NM_015255 UBR2,UBR2 EXON Missense_H182N,Missense_H182N exm547035 6 42571456 [T/C] NM_001184801,NM_015255 UBR2,UBR2 EXON Missense_V221A,Missense_V221A exm547040 6 42579963 [A/G] NM_001184801,NM_015255 UBR2,UBR2 EXON Missense_I307V,Missense_I307V exm547042 6 42582817 [T/C] NM_001184801,NM_015255 UBR2,UBR2 EXON Missense_R332C,Missense_R332C exm547043 6 42582818 [A/G] NM_001184801,NM_015255 UBR2,UBR2 EXON Missense_R332H,Missense_R332H exm2244117 6 42604917 [T/C] NM_015255 UBR2 EXON Missense_S615P exm547068 6 42609352 [A/C] NM_015255 UBR2 EXON Missense_H651Q exm547083 6 42615881 [A/G] NM_015255 UBR2 EXON Missense_S812N exm547087 6 42618068 [T/C] NM_015255 UBR2 EXON Missense_C837R exm547089 6 42620234 [C/G] NM_015255 UBR2 EXON Missense_P874A exm547101 6 42626026 [A/G] NM_015255 UBR2 EXON Missense_V1011M exm547109 6 42627434 [A/G] NM_015255 UBR2 EXON Missense_A1095T exm547113 6 42627467 [A/G] NM_015255 UBR2 EXON Missense_V1106I exm547125 6 42633977 [A/G] NM_015255 UBR2 EXON Missense_R1292H exm547133 6 42643812 [T/C] NM_015255 UBR2 EXON Missense_F1424L exm547139 6 42643926 [A/G] NM_015255 UBR2 EXON Missense_T1462A exm547142 6 42644551 [T/C] NM_015255 UBR2 EXON Missense_P1473L exm547156 6 42650806 [A/G] NM_015255 UBR2 EXON Missense_S1578G exm2270317 6 42658752 [T/C] NM_015255 UBR2 Silent exm547175 6 42666061 [T/C] NM_000322 PRPH2 EXON Missense_D338G exm547181 6 42666136 [A/G] NM_000322 PRPH2 EXON Missense_P313L exm547183 6 42666145 [T/C] NM_000322 PRPH2 EXON Missense_R310K exm547185 6 42666164 [C/G] NM_000322 PRPH2 EXON Missense_Q304E exm547188 6 42666208 [A/G] NM_000322 PRPH2 EXON Missense_S289L exm547192 6 42666244 [A/C] NM_000322 PRPH2 EXON Missense_V277G exm547195 6 42672150 [A/G] NM_000322 PRPH2 EXON Missense_L261F exm547206 6 42689590 [A/G] NM_000322 PRPH2 EXON Synonymous_I161I exm547219 6 42689940 [A/G] NM_000322 PRPH2 EXON Missense_L45F exm547220 6 42689979 [T/C] NM_000322 PRPH2 EXON Missense_I32V exm547222 6 42690036 [A/G] NM_000322 PRPH2 EXON Missense_R13W exm547228 6 42712794 [C/G] NM_003192 TBCC EXON Missense_E340Q exm2125984 6 42712809 [T/C] NM_003192 TBCC EXON Missense_I335V exm547233 6 42712977 [T/C] NM_003192 TBCC EXON Missense_A279T exm547246 6 42713123 [A/G] NM_003192 TBCC EXON Missense_A230V exm547248 6 42713174 [T/C] NM_003192 TBCC EXON Missense_N213S exm547253 6 42713274 [A/G] NM_003192 TBCC EXON Missense_P180S exm547255 6 42713307 [A/G] NM_003192 TBCC EXON Missense_P169S exm547258 6 42713342 [T/C] NM_003192 TBCC EXON Missense_G157D exm2125990 6 42713409 [T/G] NM_003192 TBCC EXON Missense_K135Q exm547262 6 42713475 [C/G] NM_003192 TBCC EXON Missense_G113R exm547263 6 42713480 [T/C] NM_003192 TBCC EXON Missense_R111Q exm547264 6 42713554 [A/C] NM_003192 TBCC EXON Missense_E86D exm547280 6 42713809 [T/C] NM_003192 TBCC EXON Missense_M1I exm547281 6 42713810 [A/C] NM_003192 TBCC EXON Missense_M1R exm-rs6458307 6 42731115 [T/C] exm2126004 6 42796259 [A/G] NM_015349 GLTSCR1L EXON Missense_G63D exm2126006 6 42796309 [A/G] NM_015349 GLTSCR1L EXON Missense_S80G exm547298 6 42796679 [A/G] NM_015349 GLTSCR1L EXON Missense_N203S exm547299 6 42796753 [A/G] NM_015349 GLTSCR1L EXON Missense_I228V exm547302 6 42796906 [A/T] NM_015349 GLTSCR1L EXON Missense_T279S exm547305 6 42797152 [A/G] NM_015349 GLTSCR1L EXON Missense_V361M exm547311 6 42797271 [G/C] NM_015349 GLTSCR1L EXON Missense_Q400H exm547314 6 42797329 [A/G] NM_015349 GLTSCR1L EXON Missense_I420V exm547336 6 42819873 [A/C] NM_015349 GLTSCR1L EXON Missense_P628H exm547346 6 42823607 [T/C] NM_015349 GLTSCR1L EXON Missense_S687L exm547350 6 42824891 [A/G] NM_015349 GLTSCR1L EXON Missense_R724Q exm2244122 6 42830258 [A/C] NM_015349 GLTSCR1L EXON Missense_P787H exm547364 6 42832562 [T/G] NM_015349 GLTSCR1L EXON Missense_M873R exm547365 6 42832579 [C/G] NM_015349 GLTSCR1L EXON Missense_H879D exm547369 6 42832715 [A/G] NM_015349 GLTSCR1L EXON Missense_R924Q exm2126037 6 42832742 [A/G] NM_015349 GLTSCR1L EXON Missense_C933Y exm547380 6 42832901 [T/C] NM_015349 GLTSCR1L EXON Missense_L986S exm547383 6 42832939 [T/C] NM_015349 GLTSCR1L EXON Missense_P999S exm547384 6 42832979 [A/G] NM_015349 GLTSCR1L EXON Missense_K1012R exm547385 6 42833003 [T/C] NM_015349 GLTSCR1L EXON Missense_A1020V exm547404 6 42851197 [A/T] NM_198486 RPL7L1 EXON Missense_K43N exm547442 6 42858231 [A/C] NM_001008739 C6orf226 EXON Missense_V99G exm547444 6 42858238 [T/G] NM_001008739 C6orf226 EXON Missense_H97N exm547446 6 42858243 [A/G] NM_001008739 C6orf226 EXON Missense_S95L exm547464 6 42858517 [A/G] NM_001008739 C6orf226 EXON Missense_P4S exm547465 6 42858524 [T/C] NM_001008739 C6orf226 EXON Missense_M1I exm547475 6 42890858 [A/C] NM_138296,NM_001243170,NM_001243169,NM_001243168 PTCRA,PTCRA,PTCRA,PTCRA EXON Missense_D51A,Silent,Silent,Missense_D51A exm547481 6 42890933 [A/G] NM_138296,NM_001243170,NM_001243169,NM_001243168 PTCRA,PTCRA,PTCRA,PTCRA EXON Missense_Y76C,Silent,Missense_Y51C,Missense_Y76C exm547484 6 42891022 [A/G] NM_138296,NM_001243170,NM_001243169,NM_001243168 PTCRA,PTCRA,PTCRA,PTCRA EXON Missense_V106I,Silent,Missense_V81I,Missense_V106I exm547487 6 42891077 [T/A] NM_138296,NM_001243170,NM_001243169,NM_001243168 PTCRA,PTCRA,PTCRA,PTCRA EXON Missense_H124L,Silent,Missense_H99L,Missense_H124L exm547506 6 42893226 [T/C] NM_138296,NM_001243170,NM_001243169,NM_001243168 PTCRA,PTCRA,PTCRA,PTCRA EXON Missense_R218C,Missense_R111C,Missense_R193C,Missense_R233C exm547510 6 42893254 [A/G] NM_138296,NM_001243170,NM_001243169,NM_001243168 PTCRA,PTCRA,PTCRA,PTCRA EXON Missense_R227Q,Missense_R120Q,Missense_R202Q,Missense_R242Q exm547513 6 42893263 [A/G] NM_138296,NM_001243170,NM_001243169,NM_001243168 PTCRA,PTCRA,PTCRA,PTCRA EXON Missense_G230E,Missense_G123E,Missense_G205E,Missense_G245E exm547516 6 42893328 [T/C] NM_138296,NM_001243170,NM_001243169,NM_001243168 PTCRA,PTCRA,PTCRA,PTCRA EXON Missense_C252R,Missense_C145R,Missense_C227R,Missense_C267R exm547521 6 42893415 [A/G] NM_138296,NM_001243170,NM_001243169,NM_001243168 PTCRA,PTCRA,PTCRA,PTCRA EXON Missense_A281T,Missense_A174T,Missense_A256T,Missense_A296T exm547536 6 42903349 [A/C] NM_006586 CNPY3 EXON Missense_K105Q exm547552 6 42906342 [A/G] NM_006586 CNPY3 EXON Missense_D217G exm547554 6 42906350 [A/G] NM_006586 CNPY3 EXON Missense_A220T exm547555 6 42906384 [T/G] NM_006586 CNPY3 EXON Missense_S231I exm547572 6 42930538 [A/G] NM_018960 GNMT EXON Missense_V125M exm547576 6 42930584 [T/G] NM_018960 GNMT EXON Missense_G140V exm547579 6 42930825 [A/C] NM_018960 GNMT EXON Missense_H156P exm547580 6 42930827 [T/C] NM_018960 GNMT EXON Missense_R157W exm547599 6 42931340 [A/G] NM_018960 GNMT EXON Missense_G262R exm547600 6 42931361 [A/G] NM_018960 GNMT EXON Missense_V269I exm547605 6 42932080 [A/G] NM_000287 PEX6 EXON Missense_A979V exm547609 6 42932200 [T/G] NM_000287 PEX6 EXON Missense_P939Q exm547619 6 42932835 [T/C] NM_000287 PEX6 EXON Missense_V882I exm2126128 6 42933047 [A/G] NM_000287 PEX6 EXON Missense_V844A exm547625 6 42933464 [A/G] NM_000287 PEX6 EXON Missense_A809V exm547627 6 42933526 [T/C] NM_000287 PEX6 EXON Synonymous_V788V exm547628 6 42933785 [T/C] NM_000287 PEX6 EXON Missense_E787K exm547636 6 42934097 [A/G] NM_000287 PEX6 EXON Missense_P728L exm547637 6 42934107 [T/G] NM_000287 PEX6 EXON Missense_L725M exm547653 6 42935188 [T/C] NM_000287 PEX6 EXON Missense_R601Q exm547656 6 42935233 [A/G] NM_000287 PEX6 EXON Missense_A586V exm547658 6 42935272 [A/G] NM_000287 PEX6 EXON Missense_T573I exm547662 6 42936039 [T/G] NM_000287 PEX6 EXON Missense_D559E exm547663 6 42936046 [T/C] NM_000287 PEX6 EXON Missense_N557S exm547664 6 42936070 [A/G] NM_000287 PEX6 EXON Missense_A549V exm547666 6 42936079 [T/C] NM_000287 PEX6 EXON Missense_R546H exm2257810 6 42936225 [A/G] NM_000287 PEX6 EXON Synonymous_S497S exm547681 6 42936704 [T/C] NM_000287 PEX6 EXON Missense_T463A exm547692 6 42937685 [T/C] NM_000287 PEX6 EXON Missense_E391K exm547699 6 42942631 [T/C] NM_000287 PEX6 EXON Missense_R343Q exm2244126 6 42942646 [T/C] NM_000287 PEX6 EXON Missense_D338G exm547703 6 42942689 [T/C] NM_000287 PEX6 EXON Missense_E324K exm547712 6 42946036 [G/C] NM_000287 PEX6 EXON Missense_P285A exm547722 6 42946204 [T/C] NM_000287 PEX6 EXON Missense_R229G exm547727 6 42946272 [T/C] NM_000287 PEX6 EXON Missense_G206E exm547731 6 42946386 [A/G] NM_000287 PEX6 EXON Missense_P168L exm547794 6 42978622 [T/C] NM_001270476,NM_180977,NM_006245,NM_180976 PPP2R5D,PPP2R5D,PPP2R5D,PPP2R5D EXON Missense_P369S,Missense_P414S,Missense_P520S,Missense_P488S exm547804 6 42980218 [T/G] NM_014623 MEA1 EXON Missense_A183D exm2126203 6 42980288 [A/G] NM_014623 MEA1 EXON Missense_R160W exm547807 6 42980311 [A/G] NM_014623 MEA1 EXON Missense_A152V exm547819 6 42980896 [A/G] NM_014623 MEA1 EXON Missense_V87A exm547873 6 42989417 [C/G] NM_033112 RRP36 EXON Missense_G9R exm547880 6 42992724 [G/C] NM_033112 RRP36 EXON Synonymous_G44G exm547881 6 42992746 [A/G] NM_033112 RRP36 EXON Missense_E52K exm547883 6 42992783 [T/C] NM_033112 RRP36 EXON Missense_T64M exm547886 6 42992822 [A/G] NM_033112 RRP36 EXON Missense_Q77R exm547887 6 42992825 [G/C] NM_033112 RRP36 EXON Missense_A78G exm547893 6 42993027 [A/G] NM_033112 RRP36 EXON Missense_R102Q exm547901 6 42993788 [T/C] NM_033112 RRP36 EXON Missense_P120L exm547909 6 42994954 [C/G] NM_033112 RRP36 EXON Missense_E163D exm547911 6 42994973 [G/C] NM_033112 RRP36 EXON Missense_Q170E exm2126241 6 42994986 [A/G] NM_033112 RRP36 EXON Missense_R174Q exm547913 6 42995126 [A/G] NM_033112 RRP36 EXON Missense_R185Q exm547915 6 42995171 [A/G] NM_033112 RRP36 EXON Missense_R200Q exm547926 6 42996940 [A/G] NM_033112 RRP36 EXON Missense_R252G exm547930 6 43005443 [A/C] NM_001168370,NM_014780 CUL7,CUL7 EXON Missense_F1778V,Missense_F1694V exm547931 6 43005451 [A/G] NM_001168370,NM_014780 CUL7,CUL7 EXON Missense_T1775I,Missense_T1691I exm547935 6 43005586 [T/C] NM_001168370,NM_014780 CUL7,CUL7 EXON Missense_Y1730C,Missense_Y1646C exm2126251 6 43005625 [A/G] NM_001168370,NM_014780 CUL7,CUL7 EXON Missense_T1717M,Missense_T1633M exm2126252 6 43005700 [T/C] NM_001168370,NM_014780 CUL7,CUL7 EXON Missense_S1692N,Missense_S1608N exm547947 6 43006016 [T/G] NM_001168370,NM_014780 CUL7,CUL7 EXON Missense_L1672I,Missense_L1588I exm547952 6 43006097 [C/G] NM_001168370,NM_014780 CUL7,CUL7 EXON Missense_E1645Q,Missense_E1561Q exm547955 6 43006135 [A/G] NM_001168370,NM_014780 CUL7,CUL7 EXON Missense_T1632M,Missense_T1548M exm547962 6 43006408 [A/G] NM_001168370,NM_014780 CUL7,CUL7 EXON Missense_L1572P,Missense_L1488P exm547966 6 43006603 [T/G] NM_001168370,NM_014780 CUL7,CUL7 EXON Missense_L1557M,Missense_L1473M exm547968 6 43006674 [A/G] NM_001168370,NM_014780 CUL7,CUL7 EXON Missense_T1533M,Missense_T1449M exm547972 6 43007927 [T/C] NM_001168370,NM_014780 CUL7,CUL7 EXON Missense_T1505A,Missense_T1421A exm2126265 6 43008002 [C/G] NM_001168370,NM_014780 CUL7,CUL7 EXON Missense_R1480G,Missense_R1396G exm547980 6 43008114 [T/A] NM_001168370,NM_014780 CUL7,CUL7 EXON Missense_E1442D,Missense_E1358D exm547999 6 43008764 [T/C] NM_001168370,NM_014780 CUL7,CUL7 EXON Missense_R1316Q,Missense_R1232Q exm548005 6 43010574 [C/G] NM_001168370,NM_014780 CUL7,CUL7 EXON Missense_A1288G,Missense_A1204G exm548012 6 43010695 [A/G] NM_001168370,NM_014780 CUL7,CUL7 EXON Missense_R1248W,Missense_R1164W exm2126279 6 43010858 [A/G] NM_001168370,NM_014780 CUL7,CUL7 EXON Missense_I1223T,Missense_I1139T exm548018 6 43010920 [T/G] NM_001168370,NM_014780 CUL7,CUL7 Silent,Silent exm548020 6 43011258 [A/G] NM_001168370,NM_014780 CUL7,CUL7 EXON Missense_R1179C,Missense_R1095C exm2126284 6 43012583 [A/G] NM_001168370,NM_014780 CUL7,CUL7 EXON Missense_R1111C,Missense_R1027C exm548036 6 43012613 [T/C] NM_001168370,NM_014780 CUL7,CUL7 EXON Missense_A1101T,Missense_A1017T exm548038 6 43013028 [T/C] NM_001168370,NM_014780 CUL7,CUL7 EXON Missense_R1076Q,Missense_R992Q exm548040 6 43013046 [T/C] NM_001168370,NM_014780 CUL7,CUL7 EXON Missense_R1070H,Missense_R986H exm2126291 6 43013055 [T/C] NM_001168370,NM_014780 CUL7,CUL7 EXON Missense_R1067H,Missense_R983H exm548048 6 43013398 [T/C] NM_001168370,NM_014780 CUL7,CUL7 EXON Missense_S1014N,Missense_S930N exm548055 6 43013797 [G/C] NM_001168370,NM_014780 CUL7,CUL7 EXON Missense_S982W,Missense_S898W exm548059 6 43013989 [T/C] NM_001168370,NM_014780 CUL7,CUL7 EXON Missense_R966Q,Missense_R882Q exm548061 6 43014020 [T/C] NM_001168370,NM_014780 CUL7,CUL7 EXON Missense_G956S,Missense_G872S exm548062 6 43014022 [A/G] NM_001168370,NM_014780 CUL7,CUL7 EXON Missense_A955V,Missense_A871V exm548067 6 43014079 [T/C] NM_001168370,NM_014780 CUL7,CUL7 EXON Missense_R936Q,Missense_R852Q exm548076 6 43014321 [T/C] NM_001168370,NM_014780 CUL7,CUL7 EXON Missense_E890K,Missense_E806K exm548080 6 43014655 [T/C] NM_001168370,NM_014780 CUL7,CUL7 EXON Missense_R871H,Missense_R787H exm548082 6 43014697 [T/C] NM_001168370,NM_014780 CUL7,CUL7 EXON Missense_R857Q,Missense_R773Q exm548094 6 43016077 [T/C] NM_001168370,NM_014780 CUL7,CUL7 EXON Missense_V770M,Missense_V686M exm548096 6 43016106 [A/G] NM_001168370,NM_014780 CUL7,CUL7 EXON Missense_P760L,Missense_P676L exm548104 6 43016266 [A/G] NM_001168370,NM_014780 CUL7,CUL7 EXON Missense_R707C,Missense_R623C exm548106 6 43016287 [T/C] NM_001168370,NM_014780 CUL7,CUL7 EXON Missense_S700G,Missense_S616G exm2126324 6 43017147 [T/C] NM_001168370,NM_014780 CUL7,CUL7 EXON Missense_E692G,Missense_E608G exm548109 6 43017190 [T/C] NM_001168370,NM_014780 CUL7,CUL7 EXON Missense_A678T,Missense_A594T exm2126331 6 43017728 [A/C] NM_001168370,NM_014780 CUL7,CUL7 EXON Missense_Q598H,Missense_Q514H exm548119 6 43017813 [T/C] NM_001168370,NM_014780 CUL7,CUL7 EXON Missense_C570Y,Missense_C486Y exm548121 6 43017858 [T/C] NM_001168370,NM_014780 CUL7,CUL7 EXON Missense_Y555C,Missense_Y471C exm548125 6 43018048 [A/C] NM_001168370,NM_014780 CUL7,CUL7 EXON Missense_V525G,Missense_V441G exm548131 6 43018737 [T/C] NM_001168370,NM_014780 CUL7,CUL7 EXON Missense_R485Q,Missense_R401Q exm548132 6 43018738 [A/G] NM_001168370,NM_014780 CUL7,CUL7 EXON Missense_R485W,Missense_R401W exm548142 6 43018872 [T/C] NM_001168370,NM_014780 CUL7,CUL7 EXON Missense_R440H,Missense_R356H exm548145 6 43018909 [T/C] NM_001168370,NM_014780 CUL7,CUL7 EXON Missense_A428T,Missense_A344T exm548147 6 43018912 [A/G] NM_001168370,NM_014780 CUL7,CUL7 EXON Missense_P427S,Missense_P343S exm548155 6 43019172 [T/C] NM_001168370,NM_014780 CUL7,CUL7 EXON Missense_R340Q,Missense_R256Q exm548156 6 43019371 [G/C] NM_001168370,NM_014780 CUL7,CUL7 EXON Missense_F321L,Missense_F237L exm548159 6 43019429 [T/C] NM_001168370,NM_014780 CUL7,CUL7 EXON Missense_R302H,Missense_R218H exm548165 6 43019994 [A/C] NM_001168370,NM_014780 CUL7,CUL7 EXON Missense_R230L,Missense_R178L exm548172 6 43020154 [C/G] NM_001168370,NM_014780 CUL7,CUL7 EXON Missense_L177V,Missense_L125V exm548182 6 43020391 [A/G] NM_001168370,NM_014780 CUL7,CUL7 EXON Missense_R98W,Missense_R46W exm548184 6 43020448 [A/G] NM_001168370,NM_014780 CUL7,CUL7 EXON Missense_R79C,Missense_R27C exm548198 6 43022035 [A/G] NM_015950 MRPL2 EXON Missense_P299S exm548204 6 43022145 [C/G] NM_015950 MRPL2 EXON Missense_R262P exm2244131 6 43022209 [T/C] NM_015950 MRPL2 EXON Missense_V241I exm548213 6 43023339 [G/C] NM_015950 MRPL2 EXON Missense_L217V exm548220 6 43023731 [T/C] NM_015950 MRPL2 EXON Missense_G179R exm548227 6 43024060 [T/C] NM_015950 MRPL2 EXON Missense_R130H exm548239 6 43025851 [T/C] NM_015950 MRPL2 EXON Missense_T73A exm548243 6 43025971 [T/C] NM_015950 MRPL2 EXON Missense_M33V exm548257 6 43029099 [A/G] NM_201521,NM_138343,NM_201523,NM_201522 KLC4,KLC4,KLC4,KLC4 EXON Missense_R9Q,Missense_R9Q,Missense_R27Q,Missense_R9Q exm548261 6 43029180 [T/A] NM_201521,NM_138343,NM_201523,NM_201522 KLC4,KLC4,KLC4,KLC4 EXON Missense_L36Q,Missense_L36Q,Missense_L54Q,Missense_L36Q exm548264 6 43029249 [A/G] NM_201521,NM_138343,NM_201523,NM_201522 KLC4,KLC4,KLC4,KLC4 EXON Missense_H59R,Missense_H59R,Missense_H77R,Missense_H59R exm548266 6 43029288 [A/G] NM_201521,NM_138343,NM_201523,NM_201522 KLC4,KLC4,KLC4,KLC4 EXON Missense_R72H,Missense_R72H,Missense_R90H,Missense_R72H exm548280 6 43030755 [A/G] NM_201521,NM_138343,NM_201523,NM_201522 KLC4,KLC4,KLC4,KLC4 EXON Missense_R120Q,Missense_R120Q,Missense_R138Q,Missense_R120Q exm548282 6 43030791 [A/G] NM_201521,NM_138343,NM_201523,NM_201522 KLC4,KLC4,KLC4,KLC4 EXON Missense_R132H,Missense_R132H,Missense_R150H,Missense_R132H exm548305 6 43034797 [G/C] NM_201521,NM_138343,NM_201523,NM_201522 KLC4,KLC4,KLC4,KLC4 EXON Missense_S285R,Missense_S285R,Missense_S303R,Missense_S285R exm548310 6 43034850 [T/C] NM_201521,NM_138343,NM_201523,NM_201522 KLC4,KLC4,KLC4,KLC4 EXON Silent,Missense_T303M,Silent,Silent exm548312 6 43034855 [T/C] NM_201521,NM_138343,NM_201523,NM_201522 KLC4,KLC4,KLC4,KLC4 EXON Silent,Missense_R305C,Silent,Silent exm548313 6 43034864 [A/C] NM_201521,NM_138343,NM_201523,NM_201522 KLC4,KLC4,KLC4,KLC4 EXON Silent,Missense_H308N,Silent,Silent exm548317 6 43038440 [T/C] NM_201521,NM_201523,NM_201522 KLC4,KLC4,KLC4 EXON Missense_T331M,Missense_T349M,Missense_T331M exm2126406 6 43039307 [A/G] NM_201521,NM_201523,NM_201522 KLC4,KLC4,KLC4 EXON Missense_D420N,Missense_D438N,Missense_D420N exm548327 6 43039337 [A/G] NM_201521,NM_201523,NM_201522 KLC4,KLC4,KLC4 EXON Missense_E430K,Missense_E448K,Missense_E430K exm548328 6 43039340 [T/C] NM_201521,NM_201523,NM_201522 KLC4,KLC4,KLC4 EXON Missense_R431W,Missense_R449W,Missense_R431W exm548340 6 43039980 [A/G] NM_201521,NM_201523,NM_201522 KLC4,KLC4,KLC4 EXON Missense_R492Q,Missense_R510Q,Missense_R492Q exm548343 6 43040609 [T/G] NM_201521,NM_201523,NM_201522 KLC4,KLC4,KLC4 EXON Missense_E512D,Missense_E530D,Missense_E512D exm548348 6 43040700 [A/G] NM_201521,NM_201523,NM_201522 KLC4,KLC4,KLC4 EXON Missense_G543R,Missense_G561R,Missense_G543R exm548355 6 43041067 [A/G] NM_201521,NM_201523,NM_201522 KLC4,KLC4,KLC4 EXON Missense_R579Q,Missense_R597Q,Missense_R579Q exm2126427 6 43097978 [G/C] NM_152882,NM_002821,NR_072997,NM_152881,NM_152880,NR_072998,NM_001270398 PTK7,PTK7,PTK7,PTK7,PTK7,PTK7,PTK7 EXON Missense_Q161E,Missense_Q161E,Silent,Missense_Q161E,Missense_Q161E,Silent,Missense_Q169E exm2126428 6 43098060 [A/G] NM_152882,NM_002821,NR_072997,NM_152881,NM_152880,NR_072998,NM_001270398 PTK7,PTK7,PTK7,PTK7,PTK7,PTK7,PTK7 EXON Missense_R188Q,Missense_R188Q,Silent,Missense_R188Q,Missense_R188Q,Silent,Missense_R196Q exm548411 6 43098393 [A/G] NM_152882,NM_002821,NR_072997,NM_152881,NM_152880,NR_072998,NM_001270398 PTK7,PTK7,PTK7,PTK7,PTK7,PTK7,PTK7 EXON Missense_R269H,Missense_R269H,Silent,Missense_R269H,Missense_R269H,Silent,Missense_R277H exm548413 6 43099762 [A/G] NM_152882,NM_002821,NR_072997,NM_152881,NM_152880,NR_072998,NM_001270398 PTK7,PTK7,PTK7,PTK7,PTK7,PTK7,PTK7 EXON Missense_H274R,Missense_H274R,Silent,Missense_H274R,Missense_H274R,Silent,Missense_H282R exm548420 6 43099899 [A/G] NM_152882,NM_002821,NR_072997,NM_152881,NM_152880,NR_072998,NM_001270398 PTK7,PTK7,PTK7,PTK7,PTK7,PTK7,PTK7 EXON Missense_A320T,Missense_A320T,Silent,Missense_A320T,Missense_A320T,Silent,Missense_A328T exm548431 6 43100231 [T/C] NM_152882,NM_002821,NR_072997,NM_152881,NM_152880,NR_072998,NM_001270398 PTK7,PTK7,PTK7,PTK7,PTK7,PTK7,PTK7 EXON Missense_P345L,Missense_P345L,Silent,Missense_P345L,Missense_P345L,Silent,Missense_P353L exm548432 6 43100256 [G/C] NM_152882,NM_002821,NR_072997,NM_152881,NM_152880,NR_072998,NM_001270398 PTK7,PTK7,PTK7,PTK7,PTK7,PTK7,PTK7 EXON Missense_S353R,Missense_S353R,Silent,Missense_S353R,Missense_S353R,Silent,Missense_S361R exm548437 6 43100276 [A/G] NM_152882,NM_002821,NR_072997,NM_152881,NM_152880,NR_072998,NM_001270398 PTK7,PTK7,PTK7,PTK7,PTK7,PTK7,PTK7 EXON Missense_G360E,Missense_G360E,Silent,Missense_G360E,Missense_G360E,Silent,Missense_G368E exm548441 6 43100339 [T/C] NM_152882,NM_002821,NR_072997,NM_152881,NM_152880,NR_072998,NM_001270398 PTK7,PTK7,PTK7,PTK7,PTK7,PTK7,PTK7 EXON Missense_I381T,Missense_I381T,Silent,Missense_I381T,Missense_I381T,Silent,Missense_I389T exm548444 6 43100374 [A/G] NM_152882,NM_002821,NR_072997,NM_152881,NM_152880,NR_072998,NM_001270398 PTK7,PTK7,PTK7,PTK7,PTK7,PTK7,PTK7 EXON Missense_A393T,Missense_A393T,Silent,Missense_A393T,Missense_A393T,Silent,Missense_A401T exm548445 6 43100411 [A/G] NM_152882,NM_002821,NR_072997,NM_152881,NM_152880,NR_072998,NM_001270398 PTK7,PTK7,PTK7,PTK7,PTK7,PTK7,PTK7 EXON Missense_N405S,Missense_N405S,Silent,Missense_N405S,Missense_N405S,Silent,Missense_N413S exm548491 6 43110014 [T/C] NM_152882,NM_002821,NR_072997,NM_152881,NM_152880,NR_072998,NM_001270398 PTK7,PTK7,PTK7,PTK7,PTK7,PTK7,PTK7 EXON Silent,Missense_T675M,Silent,Missense_T545M,Missense_T635M,Silent,Missense_T683M exm2275888 6 43111200 [G/C] NM_152882,NM_002821,NR_072997,NM_152881,NM_152880,NR_072998,NM_001270398 PTK7,PTK7,PTK7,PTK7,PTK7,PTK7,PTK7 EXON Missense_P642R,Missense_P698R,Silent,Missense_P568R,Missense_P658R,Silent,Missense_P706R exm548500 6 43111342 [G/C] NM_152882,NM_002821,NR_072997,NM_152881,NM_152880,NR_072998,NM_001270398 PTK7,PTK7,PTK7,PTK7,PTK7,PTK7,PTK7 EXON Missense_E689D,Missense_E745D,Silent,Missense_E615D,Missense_E705D,Silent,Missense_E753D exm548501 6 43111343 [A/C] NM_152882,NM_002821,NR_072997,NM_152881,NM_152880,NR_072998,NM_001270398 PTK7,PTK7,PTK7,PTK7,PTK7,PTK7,PTK7 EXON Missense_M690L,Missense_M746L,Silent,Missense_M616L,Missense_M706L,Silent,Missense_M754L exm548507 6 43112267 [T/C] NM_152882,NM_002821,NR_072997,NM_152881,NM_152880,NR_072998,NM_001270398 PTK7,PTK7,PTK7,PTK7,PTK7,PTK7,PTK7 EXON Missense_A721V,Missense_A777V,Silent,Missense_A647V,Missense_A737V,Silent,Missense_A785V exm548526 6 43114426 [T/C] NM_152882,NM_002821,NR_072997,NM_152881,NM_152880,NR_072998,NM_001270398 PTK7,PTK7,PTK7,PTK7,PTK7,PTK7,PTK7 EXON Missense_T848I,Missense_T904I,Silent,Missense_T774I,Missense_T864I,Silent,Missense_T912I exm548529 6 43126606 [T/C] NM_152882,NM_002821,NR_072997,NM_152881,NM_152880,NR_072998,NM_001270398 PTK7,PTK7,PTK7,PTK7,PTK7,PTK7,PTK7 EXON Missense_R869C,Missense_R925C,Silent,Missense_R795C,Missense_R885C,Silent,Missense_R933C exm548547 6 43128519 [A/G] NM_152882,NM_002821,NR_072997,NM_152881,NM_152880,NR_072998,NM_001270398 PTK7,PTK7,PTK7,PTK7,PTK7,PTK7,PTK7 EXON Missense_R982Q,Missense_R1038Q,Silent,Missense_R908Q,Missense_R998Q,Silent,Missense_R1046Q exm2244135 6 43141786 [T/A] NM_003131 SRF EXON Missense_T239S exm548594 6 43146899 [A/G] NM_003131 SRF EXON Missense_D500N exm2126481 6 43152127 [A/C] NM_015089 CUL9 EXON Synonymous_R27R exm548612 6 43152464 [T/C] NM_015089 CUL9 EXON Missense_T139M exm2244136 6 43152514 [C/G] NM_015089 CUL9 EXON Missense_G156R exm548632 6 43153786 [A/G] NM_015089 CUL9 EXON Missense_G282R exm548633 6 43153787 [A/G] NM_015089 CUL9 EXON Missense_G282E exm548634 6 43153814 [A/G] NM_015089 CUL9 EXON Missense_R291K exm548636 6 43153831 [A/C] NM_015089 CUL9 EXON Missense_Q297K exm2126495 6 43155145 [A/G] NM_015089 CUL9 EXON Missense_I517V exm548667 6 43155458 [G/C] NM_015089 CUL9 EXON Missense_G530A exm2126497 6 43155467 [A/C] NM_015089 CUL9 EXON Missense_A533D exm548672 6 43155598 [A/G] NM_015089 CUL9 EXON Missense_N577D exm548673 6 43155619 [A/G] NM_015089 CUL9 EXON Missense_T584A exm548680 6 43155718 [A/G] NM_015089 CUL9 EXON Missense_E617K exm548699 6 43160945 [T/C] NM_015089 CUL9 EXON Missense_A796V exm548705 6 43163933 [T/A] NM_015089 CUL9 EXON Missense_T839S exm548716 6 43164501 [A/G] NM_015089 CUL9 EXON Missense_G902R exm548719 6 43164580 [T/C] NM_015089 CUL9 EXON Missense_P928L exm2244137 6 43166461 [A/G] NM_015089 CUL9 EXON Missense_R973H exm548740 6 43167697 [T/C] NM_015089 CUL9 EXON Missense_R1063C exm2244138 6 43167737 [A/G] NM_015089 CUL9 EXON Missense_C1076Y exm548756 6 43168246 [A/C] NM_015089 CUL9 EXON Missense_L1153I exm548765 6 43170537 [A/G] NM_015089 CUL9 EXON Missense_C1244Y exm548766 6 43170542 [A/G] NM_015089 CUL9 EXON Missense_G1246S exm548767 6 43170558 [T/C] NM_015089 CUL9 EXON Missense_T1251M exm548782 6 43171724 [T/C] NM_015089 CUL9 EXON Synonymous_P1386P exm2126542 6 43172109 [A/G] NM_015089 CUL9 EXON Missense_V1391M exm548788 6 43172186 [A/G] NM_015089 CUL9 EXON Synonymous_A1416A exm2257812 6 43172186 [A/G] NM_015089 CUL9 EXON Synonymous_A1416A exm548794 6 43172226 [A/G] NM_015089 CUL9 EXON Missense_V1430M exm548798 6 43172498 [T/G] NM_015089 CUL9 EXON Missense_S1451I exm548800 6 43172528 [T/C] NM_015089 CUL9 EXON Missense_S1461L exm548802 6 43172547 [G/C] NM_015089 CUL9 EXON Missense_S1467R exm548804 6 43172560 [A/G] NM_015089 CUL9 EXON Missense_I1472V exm2126550 6 43172581 [A/G] NM_015089 CUL9 EXON Missense_V1479M exm548809 6 43172773 [T/C] NM_015089 CUL9 EXON Missense_P1518S exm548815 6 43172843 [T/C] NM_015089 CUL9 EXON Missense_T1541I exm548822 6 43173161 [A/G] NM_015089 CUL9 EXON Missense_Q1598R exm548826 6 43173813 [T/C] NM_015089 CUL9 EXON Missense_I1621T exm548831 6 43173908 [G/C] NM_015089 CUL9 EXON Missense_Q1653E exm548838 6 43174153 [T/C] NM_015089 CUL9 EXON Missense_P1706L exm548873 6 43182985 [A/G] NM_015089 CUL9 EXON Missense_A1953T exm548879 6 43183913 [A/C] NM_015089 CUL9 EXON Missense_T1985N exm548889 6 43184132 [A/C] NM_015089 CUL9 EXON Missense_H2058P exm548890 6 43184141 [A/G] NM_015089 CUL9 EXON Missense_Q2061R exm548899 6 43188290 [A/G] NM_015089 CUL9 EXON Missense_G2126R exm548906 6 43188600 [T/C] NM_015089 CUL9 EXON Missense_T2180I exm548919 6 43189433 [A/G] NM_015089 CUL9 EXON Missense_A2255T exm548922 6 43190082 [A/G] NM_015089 CUL9 EXON Missense_R2292Q exm548938 6 43191017 [A/G] NM_015089 CUL9 EXON Missense_R2389Q exm548966 6 43193759 [T/G] NM_199184,NM_006443 DNPH1,DNPH1 EXON Missense_K130Q,Silent exm548967 6 43193771 [T/C] NM_199184,NM_006443 DNPH1,DNPH1 EXON Missense_G126S,Missense_V126M exm548979 6 43194125 [G/C] NM_199184,NM_006443 DNPH1,DNPH1 EXON Missense_A69P,Missense_A69P exm549017 6 43221052 [A/G] NM_032538 TTBK1 EXON Missense_I94V exm2257813 6 43225612 [T/C] NM_032538 TTBK1 EXON Synonymous_F308F exm549047 6 43225634 [A/G] NM_032538 TTBK1 EXON Missense_D316N exm549099 6 43250558 [A/G] NM_032538 TTBK1 EXON Missense_D694N exm549106 6 43250577 [A/G] NM_032538 TTBK1 EXON Missense_R700Q exm549110 6 43250651 [G/C] NM_032538 TTBK1 EXON Missense_V725L exm2257814 6 43251118 [T/C] NM_032538 TTBK1 EXON Synonymous_D880D exm549153 6 43251325 [T/G] NM_032538 TTBK1 EXON Missense_L949F exm549157 6 43251344 [A/G] NM_032538 TTBK1 EXON Missense_A956T exm549167 6 43251485 [T/C] NM_032538 TTBK1 EXON Missense_R1003W exm549177 6 43251608 [T/C] NM_032538 TTBK1 EXON Missense_R1044C exm549193 6 43252017 [T/C] NM_032538 TTBK1 EXON Missense_A1180V exm549194 6 43252029 [T/C] NM_032538 TTBK1 EXON Missense_L1184S exm549224 6 43266397 [T/C] NM_006672,NM_153320 SLC22A7,SLC22A7 EXON Missense_R101C,Missense_R101C exm549241 6 43267376 [A/G] NM_006672,NM_153320 SLC22A7,SLC22A7 EXON Missense_R170Q,Missense_R172Q exm549261 6 43269336 [A/G] NM_006672,NM_153320 SLC22A7,SLC22A7 EXON Missense_A321T,Missense_A323T exm549264 6 43269348 [T/C] NM_006672,NM_153320 SLC22A7,SLC22A7 EXON Missense_R325W,Missense_R327W exm549270 6 43269420 [A/G] NM_006672,NM_153320 SLC22A7,SLC22A7 EXON Missense_V349M,Missense_V351M exm549280 6 43270151 [T/C] NM_006672,NM_153320 SLC22A7,SLC22A7 EXON Synonymous_S423S,Synonymous_S425S exm2126685 6 43271910 [T/G] NM_006672,NM_153320 SLC22A7,SLC22A7 EXON Missense_G505V,Missense_G507V exm549304 6 43273604 [A/G] NM_206922 CRIP3 EXON Missense_I188T exm549315 6 43273959 [G/C] NM_206922 CRIP3 EXON Missense_E165Q exm549348 6 43276494 [A/G] NM_206922 CRIP3 EXON Missense_F13L exm549356 6 43304912 [G/C] NM_014345 ZNF318 EXON Missense_S2275C exm549357 6 43305008 [A/G] NM_014345 ZNF318 EXON Missense_S2243F exm549362 6 43305068 [A/G] NM_014345 ZNF318 EXON Missense_L2223P exm549371 6 43305371 [A/C] NM_014345 ZNF318 EXON Missense_G2122V exm549372 6 43305380 [T/C] NM_014345 ZNF318 EXON Missense_G2119D exm549373 6 43305393 [A/G] NM_014345 ZNF318 EXON Missense_R2115C exm549389 6 43305912 [T/C] NM_014345 ZNF318 EXON Missense_R1942G exm549398 6 43306282 [A/C] NM_014345 ZNF318 EXON Missense_M1818I exm549401 6 43306346 [A/G] NM_014345 ZNF318 EXON Missense_V1797A exm549407 6 43306526 [T/C] NM_014345 ZNF318 EXON Missense_D1737G exm2126714 6 43306602 [T/C] NM_014345 ZNF318 EXON Missense_I1712V exm549417 6 43306817 [T/C] NM_014345 ZNF318 EXON Missense_S1640N exm549441 6 43307370 [C/G] NM_014345 ZNF318 EXON Missense_P1456A exm549449 6 43307645 [A/G] NM_014345 ZNF318 EXON Missense_S1364L exm549460 6 43307853 [T/G] NM_014345 ZNF318 EXON Missense_I1295L exm549487 6 43310590 [A/G] NM_014345 ZNF318 EXON Missense_R1034C exm549493 6 43316130 [A/G] NM_014345 ZNF318 EXON Missense_P1002S exm2274158 6 43322464 [C/G] NM_014345 ZNF318 EXON Missense_L870V exm549526 6 43322745 [A/G] NM_014345 ZNF318 EXON Missense_P776L exm549541 6 43323174 [T/C] NM_014345 ZNF318 EXON Missense_R633H exm549542 6 43323175 [A/G] NM_014345 ZNF318 EXON Missense_R633C exm549544 6 43323177 [T/C] NM_014345 ZNF318 EXON Missense_R632H exm549545 6 43323178 [A/G] NM_014345 ZNF318 EXON Missense_R632C exm2277325 6 43323303 [T/G] NM_014345 ZNF318 EXON Missense_A590E exm2126745 6 43323303 [A/G] NM_014345 ZNF318 EXON Missense_A590V exm549556 6 43323465 [T/C] NM_014345 ZNF318 EXON Missense_K536R exm549570 6 43323852 [A/C] NM_014345 ZNF318 EXON Missense_S407I exm549594 6 43325354 [T/C] NM_014345 ZNF318 EXON Missense_R233Q exm2270318 6 43396325 [T/C] NM_001198934 ABCC10 Silent exm549645 6 43400202 [A/C] NM_001198934,NM_033450 ABCC10,ABCC10 EXON Missense_P162T,Missense_P119T exm549648 6 43400230 [A/G] NM_001198934,NM_033450 ABCC10,ABCC10 EXON Missense_R171H,Missense_R128H exm549657 6 43400342 [T/G] NM_001198934,NM_033450 ABCC10,ABCC10 EXON Missense_D208E,Missense_D165E exm2126767 6 43400406 [A/G] NM_001198934,NM_033450 ABCC10,ABCC10 EXON Missense_A230T,Missense_A187T exm549667 6 43400500 [A/G] NM_001198934,NM_033450 ABCC10,ABCC10 EXON Missense_R261H,Missense_R218H exm549669 6 43400532 [T/C] NM_001198934,NM_033450 ABCC10,ABCC10 EXON Missense_R272W,Missense_R229W exm549676 6 43400685 [A/G] NM_001198934,NM_033450 ABCC10,ABCC10 EXON Missense_G323S,Missense_G280S exm549677 6 43400691 [T/C] NM_001198934,NM_033450 ABCC10,ABCC10 EXON Missense_L325F,Missense_L282F exm549678 6 43400743 [A/G] NM_001198934,NM_033450 ABCC10,ABCC10 EXON Missense_N342S,Missense_N299S exm2257815 6 43400753 [A/G] NM_001198934,NM_033450 ABCC10,ABCC10 EXON Synonymous_G345G,Synonymous_G302G exm549698 6 43401090 [T/C] NM_001198934,NM_033450 ABCC10,ABCC10 EXON Missense_R458W,Missense_R415W exm549701 6 43402450 [A/G] NM_001198934,NM_033450 ABCC10,ABCC10 EXON Missense_R491Q,Missense_R448Q exm549705 6 43402536 [A/G] NM_001198934,NM_033450 ABCC10,ABCC10 EXON Missense_V520I,Missense_V477I exm549707 6 43402561 [T/C] NM_001198934,NM_033450 ABCC10,ABCC10 EXON Missense_M528T,Missense_M485T exm549710 6 43403496 [T/C] NM_001198934,NM_033450 ABCC10,ABCC10 EXON Missense_T539M,Missense_T496M exm549712 6 43403513 [T/C] NM_001198934,NM_033450 ABCC10,ABCC10 EXON Nonsense_R545X,Nonsense_R502X exm549719 6 43403832 [T/C] NM_001198934,NM_033450 ABCC10,ABCC10 EXON Silent,Synonymous_D546D exm549738 6 43406366 [T/C] NM_001198934,NM_033450 ABCC10,ABCC10 EXON Missense_R654C,Missense_R626C exm549742 6 43406421 [A/G] NM_001198934,NM_033450 ABCC10,ABCC10 EXON Missense_E672G,Missense_E644G exm549749 6 43409627 [A/G] NM_001198934,NM_033450 ABCC10,ABCC10 EXON Missense_V719M,Missense_V691M exm2126789 6 43409664 [A/G] NM_001198934,NM_033450 ABCC10,ABCC10 EXON Missense_R731H,Missense_R703H exm549752 6 43409670 [A/G] NM_001198934,NM_033450 ABCC10,ABCC10 EXON Missense_R733Q,Missense_R705Q exm549776 6 43411906 [A/G] NM_001198934,NM_033450 ABCC10,ABCC10 EXON Missense_Q835R,Missense_Q807R exm549781 6 43411992 [A/G] NM_001198934,NM_033450 ABCC10,ABCC10 EXON Missense_K864E,Missense_K836E exm549788 6 43412082 [T/C] NM_001198934,NM_033450 ABCC10,ABCC10 EXON Missense_L894F,Missense_L866F exm549792 6 43412532 [A/G] NM_001198934,NM_033450 ABCC10,ABCC10 EXON Missense_R899Q,Missense_R871Q exm549797 6 43412612 [A/C] NM_001198934,NM_033450 ABCC10,ABCC10 EXON Missense_T926P,Missense_T898P exm549800 6 43412865 [T/C] NM_001198934,NM_033450 ABCC10,ABCC10 EXON Missense_I948T,Missense_I920T exm549805 6 43412916 [A/G] NM_001198934,NM_033450 ABCC10,ABCC10 EXON Missense_R965H,Missense_R937H exm549813 6 43413026 [T/C] NM_001198934,NM_033450 ABCC10,ABCC10 EXON Missense_R1002C,Missense_R974C exm549819 6 43413368 [T/C] NM_001198934,NM_033450 ABCC10,ABCC10 EXON Missense_T1021M,Missense_T993M exm549822 6 43413374 [A/G] NM_001198934,NM_033450 ABCC10,ABCC10 EXON Missense_R1023Q,Missense_R995Q exm549826 6 43413442 [T/C] NM_001198934,NM_033450 ABCC10,ABCC10 EXON Missense_L1046F,Missense_L1018F exm549834 6 43413553 [T/C] NM_001198934,NM_033450 ABCC10,ABCC10 EXON Missense_R1083C,Missense_R1055C exm549839 6 43413631 [A/G] NM_001198934,NM_033450 ABCC10,ABCC10 EXON Missense_D1109N,Missense_D1081N exm549840 6 43413652 [A/G] NM_001198934,NM_033450 ABCC10,ABCC10 EXON Missense_V1116M,Missense_V1088M exm2126817 6 43414035 [A/G] NM_001198934,NM_033450 ABCC10,ABCC10 EXON Missense_R1132Q,Missense_R1104Q exm549849 6 43414133 [A/G] NM_001198934,NM_033450 ABCC10,ABCC10 EXON Missense_A1165T,Missense_A1137T exm549864 6 43415145 [A/G] NM_001198934,NM_033450 ABCC10,ABCC10 EXON Missense_Q1235R,Missense_Q1207R exm549872 6 43415482 [T/C] NM_001198934,NM_033450 ABCC10,ABCC10 EXON Missense_R1256W,Missense_R1228W exm549873 6 43415549 [T/C] NM_001198934,NM_033450 ABCC10,ABCC10 EXON Missense_I1278T,Missense_I1250T exm549875 6 43415599 [T/C] NM_001198934,NM_033450 ABCC10,ABCC10 EXON Missense_R1295W,Missense_R1267W exm549884 6 43416672 [A/G] NM_001198934,NM_033450 ABCC10,ABCC10 EXON Missense_R1338Q,Missense_R1310Q exm549907 6 43418453 [A/T] NM_023932,NM_206539 DLK2,DLK2 EXON Missense_L326M,Missense_L326M exm549909 6 43418528 [T/C] NM_023932,NM_206539 DLK2,DLK2 EXON Missense_G301R,Missense_G301R exm2244161 6 43418591 [T/G] NM_023932,NM_206539 DLK2,DLK2 EXON Missense_H280N,Missense_H280N exm549916 6 43418647 [A/T] NM_023932,NM_206539 DLK2,DLK2 EXON Missense_D261V,Missense_D261V exm549921 6 43418710 [T/C] NM_023932,NM_206539 DLK2,DLK2 EXON Missense_S240N,Missense_S240N exm549926 6 43418773 [T/C] NM_023932,NM_206539 DLK2,DLK2 EXON Missense_R219H,Missense_R219H exm549961 6 43422536 [A/G] NM_023932,NM_206539 DLK2,DLK2 EXON Missense_L10F,Missense_L10F exm549972 6 43469298 [T/C] NR_027394,NM_080604,NM_001146020,NM_001146019,NM_001146018,NM_001146016,NM_001146017 TJAP1,TJAP1,TJAP1,TJAP1,TJAP1,TJAP1,TJAP1 EXON Silent,Missense_R55C,Missense_R55C,Missense_R55C,Missense_R55C,Missense_R55C,Missense_R55C exm549973 6 43469299 [A/G] NR_027394,NM_080604,NM_001146020,NM_001146019,NM_001146018,NM_001146016,NM_001146017 TJAP1,TJAP1,TJAP1,TJAP1,TJAP1,TJAP1,TJAP1 EXON Silent,Missense_R55H,Missense_R55H,Missense_R55H,Missense_R55H,Missense_R55H,Missense_R55H exm549980 6 43469358 [A/G] NR_027394,NM_080604,NM_001146020,NM_001146019,NM_001146018,NM_001146016,NM_001146017 TJAP1,TJAP1,TJAP1,TJAP1,TJAP1,TJAP1,TJAP1 EXON Silent,Missense_D75N,Missense_D75N,Missense_D75N,Missense_D75N,Missense_D75N,Missense_D75N exm550034 6 43472905 [A/G] NR_027394,NM_080604,NM_001146020,NM_001146019,NM_001146018,NM_001146016,NM_001146017 TJAP1,TJAP1,TJAP1,TJAP1,TJAP1,TJAP1,TJAP1 EXON Silent,Missense_R319H,Missense_R319H,Missense_R319H,Missense_R319H,Missense_R329H,Missense_R329H exm550037 6 43472947 [A/G] NR_027394,NM_080604,NM_001146020,NM_001146019,NM_001146018,NM_001146016,NM_001146017 TJAP1,TJAP1,TJAP1,TJAP1,TJAP1,TJAP1,TJAP1 EXON Silent,Missense_R333H,Missense_R333H,Missense_R333H,Missense_R333H,Missense_R343H,Missense_R343H exm550052 6 43473306 [T/C] NR_027394,NM_080604,NM_001146020,NM_001146019,NM_001146018,NM_001146016,NM_001146017 TJAP1,TJAP1,TJAP1,TJAP1,TJAP1,TJAP1,TJAP1 EXON Silent,Nonsense_R453X,Nonsense_R453X,Nonsense_R453X,Nonsense_R453X,Nonsense_R463X,Nonsense_R463X exm550053 6 43473307 [A/G] NR_027394,NM_080604,NM_001146020,NM_001146019,NM_001146018,NM_001146016,NM_001146017 TJAP1,TJAP1,TJAP1,TJAP1,TJAP1,TJAP1,TJAP1 EXON Silent,Missense_R453Q,Missense_R453Q,Missense_R453Q,Missense_R453Q,Missense_R463Q,Missense_R463Q exm550057 6 43473379 [A/C] NR_027394,NM_080604,NM_001146020,NM_001146019,NM_001146018,NM_001146016,NM_001146017 TJAP1,TJAP1,TJAP1,TJAP1,TJAP1,TJAP1,TJAP1 EXON Silent,Missense_N477T,Missense_N477T,Missense_N477T,Missense_N477T,Missense_N487T,Missense_N487T exm550058 6 43473385 [T/C] NR_027394,NM_080604,NM_001146020,NM_001146019,NM_001146018,NM_001146016,NM_001146017 TJAP1,TJAP1,TJAP1,TJAP1,TJAP1,TJAP1,TJAP1 EXON Silent,Missense_P479L,Missense_P479L,Missense_P479L,Missense_P479L,Missense_P489L,Missense_P489L exm550060 6 43473405 [T/C] NR_027394,NM_080604,NM_001146020,NM_001146019,NM_001146018,NM_001146016,NM_001146017 TJAP1,TJAP1,TJAP1,TJAP1,TJAP1,TJAP1,TJAP1 EXON Silent,Missense_R486C,Missense_R486C,Missense_R486C,Missense_R486C,Missense_R496C,Missense_R496C exm550061 6 43473406 [A/G] NR_027394,NM_080604,NM_001146020,NM_001146019,NM_001146018,NM_001146016,NM_001146017 TJAP1,TJAP1,TJAP1,TJAP1,TJAP1,TJAP1,TJAP1 EXON Silent,Missense_R486H,Missense_R486H,Missense_R486H,Missense_R486H,Missense_R496H,Missense_R496H exm550071 6 43475195 [A/G] NM_001271882,NM_001012974 LRRC73,LRRC73 EXON Synonymous_S170S,Synonymous_S293S exm550110 6 43479934 [T/C] NM_015388 YIPF3 EXON Missense_A342T exm2244164 6 43479979 [A/G] NM_015388 YIPF3 EXON Missense_P327S exm2126894 6 43480020 [A/G] NM_015388 YIPF3 EXON Missense_P313L exm2126895 6 43480045 [A/C] NM_015388 YIPF3 EXON Missense_D305Y exm550127 6 43480503 [T/C] NM_015388 YIPF3 EXON Missense_R259H exm550172 6 43483808 [A/G] NM_015388 YIPF3 EXON Missense_M36T exm550178 6 43484532 [A/G] NM_015388 YIPF3 EXON Missense_A5V exm550188 6 43484855 [T/C] NM_203290 POLR1C EXON Missense_A3V exm2244165 6 43484870 [A/G] NM_203290 POLR1C EXON Missense_E8G exm550190 6 43484884 [T/C] NM_203290 POLR1C EXON Missense_R13C exm550191 6 43484912 [A/G] NM_203290 POLR1C EXON Missense_R22H exm550195 6 43485090 [T/C] NM_203290 POLR1C EXON Missense_A39V exm550197 6 43487122 [A/G] NM_203290 POLR1C EXON Missense_M65V exm550202 6 43487552 [T/C] NM_203290 POLR1C EXON Missense_R120C exm550210 6 43487816 [A/G] NM_203290 POLR1C EXON Missense_G132D exm550212 6 43487842 [T/C] NM_203290 POLR1C EXON Missense_R141C exm550214 6 43487911 [A/G] NM_203290 POLR1C EXON Missense_V164M exm550217 6 43488060 [C/G] NM_203290 POLR1C EXON Missense_L184V exm550223 6 43488108 [A/G] NM_203290 POLR1C EXON Missense_A200T exm550224 6 43488144 [A/G] NM_203290 POLR1C EXON Missense_M212V exm550238 6 43488727 [T/C] NM_203290 POLR1C EXON Missense_F288S exm550251 6 43489022 [T/C] NM_203290 POLR1C EXON Missense_A342V exm550270 6 43492270 [T/G] NM_020750 XPO5 EXON Missense_Q1139P exm550272 6 43492353 [T/C] NM_020750 XPO5 EXON Missense_I1111M exm550285 6 43494424 [A/G] NM_020750 XPO5 EXON Synonymous_D994D exm550289 6 43494464 [T/C] NM_020750 XPO5 EXON Missense_K981R exm550315 6 43499286 [T/C] NM_020750 XPO5 EXON Missense_N824S exm550318 6 43501664 [A/G] NM_020750 XPO5 EXON Missense_A808V exm550325 6 43515346 [T/C] NM_020750 XPO5 EXON Missense_R720Q exm550328 6 43515415 [A/G] NM_020750 XPO5 EXON Missense_A697V exm550338 6 43519174 [T/C] NM_020750 XPO5 EXON Missense_D530G exm550347 6 43523626 [G/C] NM_020750 XPO5 EXON Missense_G463A exm550350 6 43526252 [T/C] NM_020750 XPO5 EXON Missense_N433S exm550354 6 43527979 [T/C] NM_020750 XPO5 EXON Missense_R386H exm550363 6 43535018 [T/C] NM_020750 XPO5 EXON Missense_S241N exm550369 6 43536461 [A/G] NM_020750 XPO5 EXON Missense_S212F exm550384 6 43540302 [T/C] NM_020750 XPO5 EXON Missense_G81S exm550415 6 43565568 [T/G] NM_006502 POLH EXON Missense_G209V exm2244170 6 43568762 [A/G] NM_006502 POLH EXON Missense_N233S exm550425 6 43571679 [T/C] NM_006502 POLH EXON Missense_I272T exm550427 6 43572354 [T/C] NM_006502 POLH EXON Missense_S296F exm550430 6 43572453 [T/C] NM_006502 POLH EXON Missense_T329I exm550431 6 43572467 [C/G] NM_006502 POLH EXON Missense_R334G exm550435 6 43578397 [A/G] NM_006502 POLH EXON Missense_K394R exm2244171 6 43581585 [T/C] NM_006502 POLH EXON Missense_T478M exm550454 6 43581724 [A/C] NM_006502 POLH EXON Missense_Q524H exm550455 6 43581755 [A/G] NM_006502 POLH EXON Missense_K535E exm2127026 6 43581765 [T/C] NM_006502 POLH EXON Missense_L538P exm2127027 6 43581771 [A/G] NM_006502 POLH EXON Missense_K540R exm550461 6 43581897 [T/C] NM_006502 POLH EXON Missense_S582L exm550462 6 43581903 [T/C] NM_006502 POLH EXON Missense_L584P exm550468 6 43581935 [A/G] NM_006502 POLH EXON Missense_M595V exm550471 6 43582014 [T/C] NM_006502 POLH EXON Missense_T621I exm550473 6 43582091 [A/T] NM_006502 POLH EXON Missense_M647L exm550477 6 43582176 [A/C] NM_006502 POLH EXON Missense_S675Y exm550480 6 43582191 [A/G] NM_006502 POLH EXON Missense_Q680R exm550492 6 43589395 [T/G] NM_019096 GTPBP2 EXON Missense_Q589K exm2244172 6 43589487 [T/C] NM_019096 GTPBP2 EXON Missense_R558H exm550567 6 43604268 [A/G] NM_001003690,NM_014628 MAD2L1BP,MAD2L1BP EXON Missense_Q98R,Missense_Q66R exm550611 6 43618147 [T/C] NM_001193341,NM_152732 RSPH9,RSPH9 EXON Missense_A88V,Missense_A88V exm2127067 6 43618257 [C/G] NM_001193341,NM_152732 RSPH9,RSPH9 EXON Missense_V125L,Missense_V125L exm2244175 6 43623326 [A/G] NM_001193341,NM_152732 RSPH9,RSPH9 EXON Silent,Missense_V141M exm550629 6 43623417 [A/G] NM_001193341,NM_152732 RSPH9,RSPH9 EXON Missense_R156Q,Missense_R171Q exm2127077 6 43638674 [T/C] NM_001193341,NM_152732 RSPH9,RSPH9 EXON Missense_L291F,Synonymous_P273P exm2266307 6 43645833 [A/G] NM_001193343,NM_018135 MRPS18A,MRPS18A Silent,Silent exm550677 6 43646255 [A/G] NM_001193343,NM_018135 MRPS18A,MRPS18A EXON Synonymous_D84D,Synonymous_D84D exm550685 6 43648848 [A/G] NM_001193343,NM_018135 MRPS18A,MRPS18A EXON Missense_T41I,Missense_T41I exm550693 6 43655458 [G/C] NM_001193343,NM_018135 MRPS18A,MRPS18A EXON Missense_A20G,Missense_A20G exm550740 6 43746203 [T/C] NM_001171624,NM_001025370,NM_001171630,NM_001171622,NM_001171628,NM_001025366,NM_001171626,NM_001171629,NM_003376,NM_001033756,NM_001171627,NM_001171623,NM_001204385,NM_001204384,NM_001025369,NM_001025367,NM_001025368,NM_001171625 VEGFA,VEGFA,VEGFA,VEGFA,VEGFA,VEGFA,VEGFA,VEGFA,VEGFA,VEGFA,VEGFA,VEGFA,VEGFA,VEGFA,VEGFA,VEGFA,VEGFA,VEGFA EXON Missense_R108W,Missense_R288W,Missense_R108W,Missense_R288W,Missense_R108W,Missense_R288W,Missense_R108W,Missense_R108W,Missense_R288W,Missense_R288W,Missense_R108W,Missense_R108W,Missense_R288W,Missense_R108W,Missense_R288W,Missense_R288W,Missense_R288W,Missense_R108W exm550755 6 43748486 [A/G] NM_001171624,NM_001025370,NM_001171630,NM_001171622,NM_001171628,NM_001025366,NM_001171626,NM_001171629,NM_003376,NM_001033756,NM_001171627,NM_001171623,NM_001204385,NM_001204384,NM_001025369,NM_001025367,NM_001025368,NM_001171625 VEGFA,VEGFA,VEGFA,VEGFA,VEGFA,VEGFA,VEGFA,VEGFA,VEGFA,VEGFA,VEGFA,VEGFA,VEGFA,VEGFA,VEGFA,VEGFA,VEGFA,VEGFA EXON Missense_K147R,Silent,Silent,Silent,Silent,Missense_K327R,Silent,Silent,Missense_K327R,Silent,Silent,Missense_K147R,Missense_K327R,Missense_K147R,Silent,Missense_K327R,Silent,Missense_K147R exm2244178 6 43748545 [A/G] NM_001171624,NM_001025370,NM_001171630,NM_001171622,NM_001171628,NM_001025366,NM_001171626,NM_001171629,NM_003376,NM_001033756,NM_001171627,NM_001171623,NM_001204385,NM_001204384,NM_001025369,NM_001025367,NM_001025368,NM_001171625 VEGFA,VEGFA,VEGFA,VEGFA,VEGFA,VEGFA,VEGFA,VEGFA,VEGFA,VEGFA,VEGFA,VEGFA,VEGFA,VEGFA,VEGFA,VEGFA,VEGFA,VEGFA EXON Silent,Silent,Silent,Silent,Silent,Missense_V347I,Silent,Silent,Silent,Silent,Silent,Missense_V167I,Silent,Silent,Silent,Silent,Silent,Silent exm550772 6 43749815 [A/G] NM_001171624,NM_001025370,NM_001171630,NM_001171622,NM_001171628,NM_001025366,NM_001171626,NM_001171629,NM_003376,NM_001033756,NM_001171627,NM_001171623,NM_001204385,NM_001204384,NM_001025369,NM_001025367,NM_001025368,NM_001171625 VEGFA,VEGFA,VEGFA,VEGFA,VEGFA,VEGFA,VEGFA,VEGFA,VEGFA,VEGFA,VEGFA,VEGFA,VEGFA,VEGFA,VEGFA,VEGFA,VEGFA,VEGFA EXON Missense_R206H,Silent,Silent,Silent,Silent,Missense_R403H,Missense_R182H,Missense_R182H,Missense_R386H,Missense_R362H,Silent,Missense_R223H,Silent,Silent,Silent,Missense_R380H,Missense_R362H,Missense_R200H exm-rs998584 6 43757896 [A/C] exm-rs6905288 6 43758873 [A/G] exm2257817 6 43785255 [T/C] exm-rs943072 6 43795968 [T/G] exm-rs881858 6 43806609 [A/G] exm-rs9472138 6 43811762 [T/C] exm-rs943080 6 43826627 [T/C] exm-rs4711751 6 43828582 [T/C] exm-rs9472155 6 43897727 [T/C] NR_024478 LOC100132354 Silent exm-rs4513773 6 43925526 [A/G] exm550786 6 43968412 [T/C] NM_001171992,NM_153246 C6orf223,C6orf223 EXON Missense_T19M,Missense_T19M exm550789 6 43968433 [T/G] NM_001171992,NM_153246 C6orf223,C6orf223 EXON Missense_R26L,Missense_R26L exm550796 6 43968814 [A/G] NM_001171992,NM_153246 C6orf223,C6orf223 EXON Missense_Q62R,Missense_K48E exm550799 6 43968843 [A/G] NM_001171992,NM_153246 C6orf223,C6orf223 EXON Missense_T72A,Synonymous_R57R exm550800 6 43968857 [A/G] NM_001171992,NM_153246 C6orf223,C6orf223 EXON Nonsense_W76X,Missense_G62D exm550802 6 43968881 [A/G] NM_001171992,NM_153246 C6orf223,C6orf223 Silent,Silent exm550805 6 43969821 [A/G] NM_001171992,NM_153246 C6orf223,C6orf223 EXON Missense_G95R,Synonymous_R80R exm550806 6 43969837 [T/C] NM_001171992,NM_153246 C6orf223,C6orf223 EXON Missense_P100L,Missense_P86S exm550807 6 43969839 [A/C] NM_001171992,NM_153246 C6orf223,C6orf223 EXON Missense_P101T,Synonymous_P86P exm2257819 6 43970434 [A/G] NM_001171992,NM_153246 C6orf223,C6orf223 EXON Silent,Synonymous_R100R exm550817 6 43970487 [C/G] NM_001171992,NM_153246 C6orf223,C6orf223 EXON Silent,Missense_R118P exm550828 6 43970658 [T/A] NM_001171992,NM_153246 C6orf223,C6orf223 EXON Silent,Missense_L175H exm550837 6 43970720 [T/C] NM_001171992,NM_153246 C6orf223,C6orf223 EXON Silent,Missense_P196S exm550840 6 43970742 [A/C] NM_001171992,NM_153246 C6orf223,C6orf223 EXON Silent,Missense_Q203P exm550841 6 43970748 [A/C] NM_001171992,NM_153246 C6orf223,C6orf223 EXON Silent,Missense_T205N exm2257820 6 43970827 [A/G] NM_001171992,NM_153246 C6orf223,C6orf223 EXON Silent,Synonymous_A231A exm2266308 6 43976268 [A/G] exm550899 6 44103069 [T/C] NM_018426 TMEM63B EXON Missense_R82W exm2244181 6 44103073 [A/G] NM_018426 TMEM63B EXON Missense_R83Q exm550917 6 44107262 [T/C] NM_018426 TMEM63B EXON Missense_R156W exm550940 6 44115169 [A/G] NM_018426 TMEM63B EXON Missense_V307M exm550952 6 44116308 [T/C] NM_018426 TMEM63B EXON Missense_R394C exm550954 6 44116345 [A/C] NM_018426 TMEM63B EXON Missense_N406T exm2127168 6 44116587 [A/G] NM_018426 TMEM63B EXON Missense_V440I exm551014 6 44134522 [A/G] NM_007058 CAPN11 EXON Missense_S15N exm551015 6 44134540 [A/C] NM_007058 CAPN11 EXON Missense_E21A exm551029 6 44137700 [T/C] NM_007058 CAPN11 EXON Nonsense_Q133X exm551031 6 44140041 [T/G] NM_007058 CAPN11 EXON Missense_D138Y exm551032 6 44140054 [T/C] NM_007058 CAPN11 EXON Missense_L142P exm-IND6-44248032 6 44140055 [D/I] NM_007058 CAPN11 EXON exm551038 6 44140711 [T/G] NM_007058 CAPN11 EXON Missense_V188G exm551044 6 44141001 [A/G] NM_007058 CAPN11 EXON Missense_G237S exm551047 6 44141088 [A/G] NM_007058 CAPN11 EXON Missense_V266M exm551051 6 44143862 [A/G] NM_007058 CAPN11 EXON Missense_A297T exm551063 6 44144671 [A/C] NM_007058 CAPN11 EXON Missense_H391Q exm551066 6 44144696 [T/C] NM_007058 CAPN11 EXON Missense_R400C exm551072 6 44145063 [T/C] NM_007058 CAPN11 EXON Missense_V441A exm551076 6 44145101 [T/C] NM_007058 CAPN11 EXON Missense_R454W exm551078 6 44145155 [T/G] NM_007058 CAPN11 EXON Missense_A472S exm551086 6 44147797 [T/C] NM_007058 CAPN11 EXON Missense_R513W exm551093 6 44147821 [A/G] NM_007058 CAPN11 EXON Missense_I521V exm551094 6 44147869 [C/G] NM_007058 CAPN11 EXON Missense_R537G exm551104 6 44148711 [T/C] NM_007058 CAPN11 EXON Missense_R616C exm551105 6 44148718 [T/C] NM_007058 CAPN11 EXON Missense_M618T exm551112-other 6 44150755 [A/T] NM_007058 CAPN11 EXON Synonymous_A672A exm551118 6 44150927 [T/G] NM_007058 CAPN11 EXON Missense_F697V exm551126 6 44151490 [A/G] NM_007058 CAPN11 EXON Missense_S728N exm551137 6 44197398 [C/G] NM_001078174,NM_004955,NM_001078175,NM_001078176,NM_001078177 SLC29A1,SLC29A1,SLC29A1,SLC29A1,SLC29A1 EXON Missense_A62P,Missense_A62P,Missense_A62P,Missense_A62P,Missense_A62P exm551164 6 44198362 [T/C] NM_001078174,NM_004955,NM_001078175,NM_001078176,NM_001078177 SLC29A1,SLC29A1,SLC29A1,SLC29A1,SLC29A1 EXON Missense_I216T,Missense_I216T,Missense_I216T,Missense_I216T,Missense_I216T exm551183 6 44200655 [A/G] NM_001078174,NM_004955,NM_001078175,NM_001078176,NM_001078177 SLC29A1,SLC29A1,SLC29A1,SLC29A1,SLC29A1 EXON Missense_E391K,Missense_E391K,Missense_E391K,Missense_E391K,Missense_E391K exm551189 6 44201182 [A/G] NM_001078174,NM_004955,NM_001078175,NM_001078176,NM_001078177 SLC29A1,SLC29A1,SLC29A1,SLC29A1,SLC29A1 EXON Missense_A430T,Missense_A430T,Missense_A430T,Missense_A430T,Missense_A430T exm551196 6 44216399 [T/G] NM_001271970,NM_001271971,NM_001271969,NM_001271972,NM_007355 HSP90AB1,HSP90AB1,HSP90AB1,HSP90AB1,HSP90AB1 EXON Missense_E11D,Missense_E11D,Missense_E11D,Missense_E11D,Missense_E11D exm2257823 6 44219566 [C/G] NM_001271970,NM_001271971,NM_001271969,NM_001271972,NM_007355 HSP90AB1,HSP90AB1,HSP90AB1,HSP90AB1,HSP90AB1 EXON Synonymous_L469L,Synonymous_L421L,Synonymous_L469L,Synonymous_L459L,Synonymous_L469L exm551298 6 44221316 [A/G] NM_001271970,NM_001271971,NM_001271969,NM_001271972,NM_007355 HSP90AB1,HSP90AB1,HSP90AB1,HSP90AB1,HSP90AB1 EXON Missense_R719H,Missense_R671H,Missense_R719H,Missense_R709H,Missense_R719H exm551309 6 44222490 [A/G] NM_178148 SLC35B2 EXON Missense_R418W exm551321 6 44222664 [T/C] NM_178148 SLC35B2 EXON Missense_G360R exm551323 6 44222718 [C/G] NM_178148 SLC35B2 EXON Missense_L342V exm551331 6 44222903 [A/G] NM_178148 SLC35B2 EXON Missense_A280V exm551334 6 44222994 [T/C] NM_178148 SLC35B2 EXON Missense_V250I exm551336 6 44222999 [A/G] NM_178148 SLC35B2 EXON Missense_I248T exm551345 6 44223123 [T/C] NM_178148 SLC35B2 EXON Missense_V207I exm551353 6 44223247 [A/C] NM_178148 SLC35B2 EXON Missense_I165M exm2127328 6 44224113 [A/G] NM_178148 SLC35B2 EXON Missense_A109V exm551382 6 44227802 [A/G] NM_004556 NFKBIE EXON Missense_T472M exm551398 6 44229512 [T/C] NM_004556 NFKBIE EXON Missense_R320Q exm551414 6 44232889 [T/A] NM_004556 NFKBIE EXON Missense_D204E exm551415 6 44232920 [A/G] NM_004556 NFKBIE EXON Missense_V194A exm551483 6 44248003 [T/C] NM_182539 TCTE1 EXON Missense_R474Q exm551484 6 44248004 [A/G] NM_182539 TCTE1 EXON Nonsense_R474X exm551486 6 44248037 [T/C] NM_182539 TCTE1 EXON Missense_E463K exm551491 6 44248124 [T/C] NM_182539 TCTE1 EXON Missense_G434S exm2257824 6 44249939 [A/G] NM_182539 TCTE1 EXON Synonymous_L402L exm551500 6 44249992 [A/T] NM_182539 TCTE1 EXON Missense_H384L exm551502 6 44250016 [T/C] NM_182539 TCTE1 EXON Missense_D376G exm551503 6 44250023 [T/G] NM_182539 TCTE1 EXON Missense_I374L exm551509 6 44250104 [A/G] NM_182539 TCTE1 EXON Missense_R347C exm551516 6 44250215 [T/C] NM_182539 TCTE1 EXON Missense_E310K exm551520 6 44250281 [A/G] NM_182539 TCTE1 EXON Nonsense_R288X exm551524 6 44253765 [A/G] NM_182539 TCTE1 EXON Missense_F261S exm551532 6 44253991 [T/C] NM_182539 TCTE1 EXON Missense_N186D exm551533 6 44253993 [T/C] NM_182539 TCTE1 EXON Missense_R185Q exm551534 6 44253994 [A/G] NM_182539 TCTE1 EXON Missense_R185W exm551537 6 44254077 [T/G] NM_182539 TCTE1 EXON Missense_E157A exm551538 6 44254078 [T/C] NM_182539 TCTE1 EXON Missense_E157K exm551548 6 44254150 [A/G] NM_182539 TCTE1 EXON Missense_R133C exm551554 6 44255337 [T/C] NM_182539 TCTE1 EXON Missense_V76M exm551557 6 44255375 [T/C] NM_182539 TCTE1 EXON Missense_R63Q exm551562 6 44255387 [T/C] NM_182539 TCTE1 EXON Missense_R59H exm551563 6 44255388 [A/G] NM_182539 TCTE1 EXON Missense_R59C exm551567 6 44255459 [A/G] NM_182539 TCTE1 EXON Missense_P35L exm551569 6 44255495 [T/C] NM_182539 TCTE1 EXON Missense_N23S exm2257825 6 44255551 [A/G] NM_182539 TCTE1 EXON Synonymous_T4T exm2244194 6 44268381 [A/G] NM_020745 AARS2 EXON Missense_A954V exm551584 6 44268964 [A/G] NM_020745 AARS2 EXON Missense_P908S exm551587 6 44268985 [A/G] NM_020745 AARS2 EXON Missense_R901W exm551595 6 44269170 [T/C] NM_020745 AARS2 EXON Missense_R877Q exm551596 6 44269171 [A/G] NM_020745 AARS2 EXON Missense_R877W exm551598 6 44269200 [A/G] NM_020745 AARS2 EXON Missense_A867V exm551605 6 44269847 [T/C] NM_020745 AARS2 EXON Missense_M850V exm551607 6 44270144 [A/G] NM_020745 AARS2 EXON Missense_I824T exm551608 6 44270171 [A/G] NM_020745 AARS2 EXON Missense_A815V exm551609 6 44270175 [T/C] NM_020745 AARS2 EXON Missense_V814M exm551610 6 44270189 [T/A] NM_020745 AARS2 EXON Missense_L809Q exm2244195 6 44270199 [A/G] NM_020745 AARS2 EXON Missense_R806W exm551626 6 44270870 [T/C] NM_020745 AARS2 EXON Missense_V730M exm551628 6 44270894 [A/G] NM_020745 AARS2 EXON Missense_R722W exm551640 6 44271135 [T/C] NM_020745 AARS2 EXON Missense_R678Q exm551652 6 44272191 [T/C] NM_020745 AARS2 EXON Missense_R611Q exm551655 6 44272249 [A/G] NM_020745 AARS2 EXON Missense_R592W exm551657 6 44272382 [T/C] NM_020745 AARS2 EXON Synonymous_E584E exm551660 6 44272473 [T/C] NM_020745 AARS2 EXON Missense_R554H exm551661 6 44272474 [A/G] NM_020745 AARS2 EXON Missense_R554C exm551662 6 44272485 [C/G] NM_020745 AARS2 EXON Missense_G550A exm551667 6 44272513 [T/C] NM_020745 AARS2 EXON Missense_E541K exm2127412 6 44272836 [C/G] NM_020745 AARS2 EXON Missense_D512H exm551676 6 44272932 [A/G] NM_020745 AARS2 EXON Missense_R480W exm551678 6 44273412 [T/C] NM_020745 AARS2 EXON Missense_R471Q exm551685 6 44274067 [T/C] NM_020745 AARS2 EXON Missense_R417Q exm551690 6 44274121 [T/C] NM_020745 AARS2 EXON Missense_N399S exm551691 6 44274122 [T/G] NM_020745 AARS2 EXON Missense_N399H exm551694 6 44274257 [A/G] NM_020745 AARS2 EXON Missense_P388S exm551698 6 44274725 [A/T] NM_020745 AARS2 EXON Missense_M362L exm551701 6 44274742 [T/C] NM_020745 AARS2 EXON Missense_R356Q exm551705 6 44275011 [T/C] NM_020745 AARS2 EXON Missense_I339V exm551714 6 44278069 [T/G] NM_020745 AARS2 EXON Missense_D287E exm551724 6 44278885 [A/G] NM_020745 AARS2 EXON Missense_R199C exm2266185 6 44291641 [A/G] exm551752 6 44310854 [A/G] NM_145026 SPATS1 EXON Missense_G8R exm551756 6 44310965 [T/A] NM_145026 SPATS1 EXON Missense_T45S exm551761 6 44320606 [A/G] NM_145026 SPATS1 EXON Missense_V95I exm551766 6 44328296 [A/C] NM_145026 SPATS1 EXON Missense_K134T exm551767 6 44328305 [T/C] NM_145026 SPATS1 EXON Missense_T137M exm551769 6 44329574 [A/G] NM_145026 SPATS1 EXON Missense_G140E exm551770 6 44329579 [T/C] NM_145026 SPATS1 EXON Missense_R142C exm551778 6 44336148 [A/G] NM_145026 SPATS1 EXON Missense_T203A exm551785 6 44344140 [G/C] NM_145026 SPATS1 EXON Missense_E268D exm551797 6 44361220 [A/G] NM_001253 CDC5L EXON Missense_T117A exm551801 6 44361309 [A/G] NM_001253 CDC5L EXON Synonymous_E146E exm551830 6 44390442 [A/G] NM_001253 CDC5L EXON Missense_V434I exm551831 6 44390458 [T/C] NM_001253 CDC5L EXON Missense_P439L exm551834 6 44390518 [A/G] NM_001253 CDC5L EXON Missense_Y459C exm551851 6 44397465 [A/G] NM_001253 CDC5L EXON Missense_V637M exm-rs3799977 6 44837356 [T/G] NM_181356,NM_001261823,NM_003599 SUPT3H,SUPT3H,SUPT3H Silent,Silent,Silent exm551896 6 44900431 [A/G] NM_181356,NM_001261823,NM_003599 SUPT3H,SUPT3H,SUPT3H EXON Nonsense_R302X,Nonsense_R139X,Nonsense_R291X exm551897 6 44900434 [T/C] NM_181356,NM_001261823,NM_003599 SUPT3H,SUPT3H,SUPT3H EXON Missense_I301V,Missense_I138V,Missense_I290V exm551900 6 44900467 [T/C] NM_181356,NM_001261823,NM_003599 SUPT3H,SUPT3H,SUPT3H EXON Missense_D290N,Missense_D127N,Missense_D279N exm551904 6 44921076 [T/C] NM_181356,NM_001261823,NM_003599 SUPT3H,SUPT3H,SUPT3H EXON Missense_T269A,Missense_T106A,Missense_T258A exm551907 6 44921123 [T/G] NM_181356,NM_001261823,NM_003599 SUPT3H,SUPT3H,SUPT3H EXON Missense_D253A,Missense_D90A,Missense_D242A exm551909 6 44922299 [A/G] NM_181356,NM_001261823,NM_003599 SUPT3H,SUPT3H,SUPT3H EXON Missense_M220T,Missense_M57T,Missense_M209T exm551912 6 44929544 [T/C] NM_181356,NM_001261823,NM_003599 SUPT3H,SUPT3H,SUPT3H EXON Missense_I187V,Missense_I24V,Missense_I176V exm-rs9472414 6 44946506 [T/A] NM_181356,NM_001261823,NM_003599 SUPT3H,SUPT3H,SUPT3H Silent,Silent,Silent exm-rs10948197 6 44967490 [T/C] NM_181356,NM_001261823,NM_003599 SUPT3H,SUPT3H,SUPT3H Silent,Silent,Silent exm551915 6 44971403 [T/C] NM_181356,NM_001261823,NM_003599 SUPT3H,SUPT3H,SUPT3H EXON Missense_Q175R,Missense_Q12R,Missense_Q164R exm551917 6 44971464 [T/C] NM_181356,NM_001261823,NM_003599 SUPT3H,SUPT3H,SUPT3H EXON Missense_I155V,Silent,Missense_I144V exm-rs9395066 6 45095163 [A/C] NM_181356,NM_001261823,NM_003599 SUPT3H,SUPT3H,SUPT3H Silent,Silent,Silent exm551938 6 45289532 [A/C] NM_181356,NM_001261823,NM_003599 SUPT3H,SUPT3H,SUPT3H Silent,Silent,Silent exm551939 6 45289533 [T/C] NM_181356,NM_001261823,NM_003599 SUPT3H,SUPT3H,SUPT3H EXON Missense_R45K,Silent,Silent exm551940 6 45289587 [A/G] NM_181356,NM_001261823,NM_003599 SUPT3H,SUPT3H,SUPT3H EXON Missense_S27L,Silent,Silent exm551942 6 45290634 [A/G] NM_181356,NM_001261823,NM_003599 SUPT3H,SUPT3H,SUPT3H EXON Missense_T7M,Silent,Silent exm551953 6 45296398 [T/C] NM_181356,NM_001261823,NM_003599,NM_001015051,NM_001024630 SUPT3H,SUPT3H,SUPT3H,RUNX2,RUNX2 EXON Silent,Silent,Silent,Silent,Silent exm551960 6 45333028 [A/G] NM_181356,NM_001261823,NM_003599,NM_001015051,NM_001024630 SUPT3H,SUPT3H,SUPT3H,RUNX2,RUNX2 EXON Silent,Silent,Missense_T4M,Silent,Silent exm551984 6 45390567 [A/T] NM_001015051,NM_001024630,NM_004348 RUNX2,RUNX2,RUNX2 EXON Missense_N99I,Missense_N99I,Missense_N85I exm551991 6 45399707 [C/G] NM_001015051,NM_001024630,NM_004348 RUNX2,RUNX2,RUNX2 EXON Missense_N177K,Missense_N177K,Missense_N163K exm552004 6 45480010 [T/C] NM_001015051,NM_001024630,NM_004348 RUNX2,RUNX2,RUNX2 EXON Missense_P296L,Missense_P296L,Missense_P282L exm552013 6 45480115 [G/C] NM_001015051,NM_001024630,NM_004348 RUNX2,RUNX2,RUNX2 EXON Missense_A331G,Missense_A331G,Missense_A317G exm552020 6 45514642 [A/G] NM_001015051,NM_001024630,NM_004348 RUNX2,RUNX2,RUNX2 EXON Missense_N367S,Missense_N389S,Missense_N375S exm552036 6 45515007 [A/G] NM_001015051,NM_001024630,NM_004348 RUNX2,RUNX2,RUNX2 EXON Missense_G489S,Missense_G511S,Missense_G497S exm2262132 6 45561960 [A/G] exm2274160 6 45870832 [T/C] NM_001114086,NR_045672,NR_045673,NM_016929 CLIC5,CLIC5,CLIC5,CLIC5 EXON Missense_R409Q,Silent,Silent,Missense_R250Q exm552041 6 45870842 [A/G] NM_001114086,NR_045672,NR_045673,NM_016929 CLIC5,CLIC5,CLIC5,CLIC5 EXON Missense_R406C,Silent,Silent,Missense_R247C exm552053 6 45882038 [T/C] NM_001114086,NR_045672,NR_045673,NM_016929,NM_001256023,NR_045674 CLIC5,CLIC5,CLIC5,CLIC5,CLIC5,CLIC5 EXON Missense_R331Q,Silent,Silent,Missense_R172Q,Missense_R172Q,Silent exm552054 6 45882039 [A/G] NM_001114086,NR_045672,NR_045673,NM_016929,NM_001256023,NR_045674 CLIC5,CLIC5,CLIC5,CLIC5,CLIC5,CLIC5 EXON Missense_R331W,Silent,Silent,Missense_R172W,Missense_R172W,Silent exm552055 6 45882045 [G/C] NM_001114086,NR_045672,NR_045673,NM_016929,NM_001256023,NR_045674 CLIC5,CLIC5,CLIC5,CLIC5,CLIC5,CLIC5 EXON Missense_G329R,Silent,Silent,Missense_G170R,Missense_G170R,Silent exm552056 6 45882062 [C/G] NM_001114086,NR_045672,NR_045673,NM_016929,NM_001256023,NR_045674 CLIC5,CLIC5,CLIC5,CLIC5,CLIC5,CLIC5 EXON Missense_T323S,Silent,Silent,Missense_T164S,Missense_T164S,Silent exm552058 6 45882074 [A/G] NM_001114086,NR_045672,NR_045673,NM_016929,NM_001256023,NR_045674 CLIC5,CLIC5,CLIC5,CLIC5,CLIC5,CLIC5 EXON Missense_I319T,Silent,Silent,Missense_I160T,Missense_I160T,Silent exm552059 6 45882076 [A/C] NM_001114086,NR_045672,NR_045673,NM_016929,NM_001256023,NR_045674 CLIC5,CLIC5,CLIC5,CLIC5,CLIC5,CLIC5 EXON Missense_E318D,Silent,Silent,Missense_E159D,Missense_E159D,Silent exm552063 6 45882128 [A/G] NM_001114086,NR_045672,NR_045673,NM_016929,NM_001256023,NR_045674 CLIC5,CLIC5,CLIC5,CLIC5,CLIC5,CLIC5 EXON Missense_T301I,Silent,Silent,Missense_T142I,Missense_T142I,Silent exm552068 6 45909349 [T/G] NM_001114086,NM_016929,NM_001256023 CLIC5,CLIC5,CLIC5 EXON Missense_A273E,Missense_A114E,Missense_A114E exm552070 6 45909364 [T/C] NM_001114086,NM_016929,NM_001256023 CLIC5,CLIC5,CLIC5 EXON Missense_R268Q,Missense_R109Q,Missense_R109Q exm552071 6 45916999 [T/G] NM_001114086,NM_016929,NM_001256023 CLIC5,CLIC5,CLIC5 EXON Missense_P257H,Missense_P98H,Missense_P98H exm552072 6 45917004 [A/C] NM_001114086,NM_016929,NM_001256023 CLIC5,CLIC5,CLIC5 EXON Missense_L255F,Missense_L96F,Missense_L96F exm552074 6 45917039 [T/C] NM_001114086,NM_016929,NM_001256023 CLIC5,CLIC5,CLIC5 EXON Missense_V244I,Missense_V85I,Missense_V85I exm552079 6 45917083 [A/G] NM_001114086,NM_016929,NM_001256023 CLIC5,CLIC5,CLIC5 EXON Missense_T229M,Missense_T70M,Missense_T70M exm552088 6 45922972 [T/C] NM_001114086,NM_016929,NM_001256023 CLIC5,CLIC5,CLIC5 EXON Missense_D184N,Missense_D25N,Missense_D25N exm552098 6 46047640 [T/C] NM_001114086 CLIC5 EXON Missense_T114A exm552099 6 46047743 [T/A] NM_001114086 CLIC5 EXON Missense_R79S exm552100 6 46047844 [A/T] NM_001114086 CLIC5 EXON Missense_L46I exm552103 6 46047970 [T/C] NM_001114086 CLIC5 EXON Missense_E4K exm2257829 6 46080356 [A/G] exm552106 6 46107343 [T/C] NM_014936 ENPP4 EXON Missense_L8S exm2244207 6 46107454 [A/G] NM_014936 ENPP4 EXON Missense_E45G exm552112 6 46107595 [T/C] NM_014936 ENPP4 EXON Missense_S92F exm552115 6 46107752 [C/G] NM_014936 ENPP4 EXON Missense_H144Q exm552118 6 46107769 [T/A] NM_014936 ENPP4 EXON Missense_Y150F exm552125 6 46108083 [A/G] NM_014936 ENPP4 EXON Missense_I255V exm552129 6 46108789 [A/G] NM_014936 ENPP4 EXON Missense_N276S exm552135 6 46108932 [A/G] NM_014936 ENPP4 EXON Missense_I324V exm552144 6 46111264 [A/G] NM_014936 ENPP4 EXON Missense_V417M exm552147 6 46111330 [T/G] NM_014936 ENPP4 EXON Missense_S439A exm2273420 6 46128688 [C/G] NM_021572 ENPP5 EXON Silent exm552167 6 46133195 [T/C] NM_021572 ENPP5 EXON Missense_R312Q exm552168 6 46133204 [T/C] NM_021572 ENPP5 EXON Missense_Y309C exm552169 6 46133216 [T/C] NM_021572 ENPP5 EXON Nonsense_W305X exm2127561 6 46133278 [T/C] NM_021572 ENPP5 EXON Synonymous_E284E exm552172 6 46133282 [T/C] NM_021572 ENPP5 EXON Missense_Y283C exm552177 6 46135231 [T/C] NM_021572 ENPP5 EXON Missense_D257N exm552183 6 46135395 [A/G] NM_021572 ENPP5 EXON Missense_P202L exm552189 6 46135489 [T/C] NM_021572 ENPP5 EXON Missense_I171V exm2127566 6 46135587 [A/G] NM_021572 ENPP5 EXON Missense_M138T exm552194 6 46135603 [T/G] NM_021572 ENPP5 EXON Missense_T133P exm552197 6 46135720 [A/C] NM_021572 ENPP5 EXON Missense_D94Y exm552199 6 46135795 [T/C] NM_021572 ENPP5 EXON Missense_I69V exm552203 6 46135858 [T/C] NM_021572 ENPP5 EXON Missense_T48A exm552204 6 46135884 [C/G] NM_021572 ENPP5 EXON Missense_R39P exm552205 6 46135885 [A/G] NM_021572 ENPP5 EXON Missense_R39C exm2127569 6 46135967 [T/C] NM_021572 ENPP5 EXON Missense_I11M exm552208 6 46135984 [T/G] NM_021572 ENPP5 EXON Missense_L6I exm552210 6 46190889 [A/C] NM_005822,NM_001251974,NM_001251973 RCAN2,RCAN2,RCAN2 EXON Missense_V195L,Missense_V241L,Missense_V241L exm552216 6 46191014 [C/G] NM_005822,NM_001251974,NM_001251973 RCAN2,RCAN2,RCAN2 EXON Missense_G153A,Missense_G199A,Missense_G199A exm552218 6 46214544 [T/C] NM_005822,NM_001251974,NM_001251973 RCAN2,RCAN2,RCAN2 EXON Missense_N125S,Missense_N171S,Missense_N171S exm2270469 6 46232325 [T/C] NM_005822,NM_001251974,NM_001251973 RCAN2,RCAN2,RCAN2 Silent,Silent,Silent exm552245 6 46521532 [T/C] NM_016593 CYP39A1 EXON Missense_C437Y exm552251 6 46554836 [T/C] NM_016593 CYP39A1 EXON Missense_G410R exm552253 6 46554899 [A/G] NM_016593 CYP39A1 EXON Missense_R389C exm552255 6 46555805 [C/G] NM_016593 CYP39A1 EXON Missense_P376R exm552260 6 46563779 [T/C] NM_016593 CYP39A1 EXON Missense_R337H exm552261 6 46563804 [T/G] NM_016593 CYP39A1 EXON Missense_K329Q exm552262 6 46563817 [T/A] NM_016593 CYP39A1 EXON Missense_N324K exm552268 6 46593179 [T/G] NM_016593 CYP39A1 EXON Missense_I303L exm552273 6 46593221 [T/C] NM_016593 CYP39A1 EXON Missense_V289I exm552274 6 46593222 [A/G] NM_016593 CYP39A1 EXON Synonymous_Y288Y exm2257831 6 46593222 [A/G] NM_016593 CYP39A1 EXON Synonymous_Y288Y exm552275 6 46593224 [A/G] NM_016593 CYP39A1 EXON Missense_Y288H exm552287 6 46604145 [G/C] NM_016593 CYP39A1 EXON Missense_S238C exm552302 6 46607354 [A/G] NM_016593 CYP39A1 EXON Missense_M122T exm552307 6 46609905 [T/C] NM_016593 CYP39A1 EXON Missense_R103H exm552315 6 46620240 [T/C] NM_016593 CYP39A1 EXON Missense_R27H exm552316 6 46620252 [C/G] NM_016593 CYP39A1 EXON Missense_R23P exm2274161 6 46623690 [T/C] NM_004277,NM_001204051,NM_001204052 SLC25A27,SLC25A27,SLC25A27 EXON Missense_R73C,Missense_R73C,Missense_R73C exm552339 6 46623768 [A/G] NM_004277,NM_001204051,NM_001204052 SLC25A27,SLC25A27,SLC25A27 EXON Missense_V99I,Missense_V99I,Missense_V99I exm2266189 6 46625274 [A/G] NM_004277,NM_001204051,NM_001204052 SLC25A27,SLC25A27,SLC25A27 Silent,Silent,Silent exm552342 6 46626759 [A/G] NM_004277,NM_001204051,NM_001204052 SLC25A27,SLC25A27,SLC25A27 EXON Missense_S120N,Missense_S120N,Missense_S120N exm2127620 6 46632524 [T/C] NM_004277,NM_001204051,NM_001204052 SLC25A27,SLC25A27,SLC25A27 EXON Missense_H174Y,Missense_H174Y,Missense_H174Y exm552354 6 46632594 [T/C] NM_004277,NM_001204051,NM_001204052 SLC25A27,SLC25A27,SLC25A27 EXON Missense_I197T,Missense_I197T,Missense_I197T exm552356 6 46636477 [T/C] NM_004277,NM_001204051,NM_001204052 SLC25A27,SLC25A27,SLC25A27 EXON Synonymous_Y217Y,Synonymous_Y217Y,Synonymous_Y217Y exm2244208 6 46637924 [A/G] NM_004277,NM_001204051,NM_001204052 SLC25A27,SLC25A27,SLC25A27 EXON Missense_K253E,Missense_K253E,Silent exm552364 6 46638864 [A/G] NM_004277,NM_001204051,NM_001204052 SLC25A27,SLC25A27,SLC25A27 EXON Missense_G267R,Missense_G267R,Silent exm552367 6 46638913 [A/G] NM_004277,NM_001204051,NM_001204052 SLC25A27,SLC25A27,SLC25A27 EXON Missense_G283D,Missense_G283D,Silent exm552372 6 46655876 [T/C] NM_001168359,NM_001010870 TDRD6,TDRD6 EXON Missense_T4M,Missense_T4M exm552373 6 46655878 [T/C] NM_001168359,NM_001010870 TDRD6,TDRD6 EXON Missense_P5S,Missense_P5S exm552382 6 46656191 [T/C] NM_001168359,NM_001010870 TDRD6,TDRD6 EXON Missense_A109V,Missense_A109V exm552388 6 46656298 [A/G] NM_001168359,NM_001010870 TDRD6,TDRD6 EXON Missense_E145K,Missense_E145K exm552390 6 46656349 [T/C] NM_001168359,NM_001010870 TDRD6,TDRD6 EXON Nonsense_Q162X,Nonsense_Q162X exm2127625 6 46656357 [T/G] NM_001168359,NM_001010870 TDRD6,TDRD6 EXON Missense_K164N,Missense_K164N exm552396 6 46656382 [A/G] NM_001168359,NM_001010870 TDRD6,TDRD6 EXON Missense_V173M,Missense_V173M exm552399 6 46656464 [T/G] NM_001168359,NM_001010870 TDRD6,TDRD6 EXON Missense_V200G,Missense_V200G exm552407 6 46656557 [T/C] NM_001168359,NM_001010870 TDRD6,TDRD6 EXON Missense_P231L,Missense_P231L exm552411 6 46656611 [A/G] NM_001168359,NM_001010870 TDRD6,TDRD6 EXON Missense_G249D,Missense_G249D exm552413 6 46656674 [A/G] NM_001168359,NM_001010870 TDRD6,TDRD6 EXON Missense_R270H,Missense_R270H exm552431 6 46657034 [A/G] NM_001168359,NM_001010870 TDRD6,TDRD6 EXON Missense_R390Q,Missense_R390Q exm552433 6 46657057 [A/G] NM_001168359,NM_001010870 TDRD6,TDRD6 EXON Missense_T398A,Missense_T398A exm552437 6 46657105 [T/C] NM_001168359,NM_001010870 TDRD6,TDRD6 EXON Missense_S414P,Missense_S414P exm2127638 6 46657121 [A/G] NM_001168359,NM_001010870 TDRD6,TDRD6 EXON Missense_Y419C,Missense_Y419C exm552438 6 46657124 [A/G] NM_001168359,NM_001010870 TDRD6,TDRD6 EXON Missense_Y420C,Missense_Y420C exm2127642 6 46657174 [A/G] NM_001168359,NM_001010870 TDRD6,TDRD6 EXON Missense_V437I,Missense_V437I exm552441 6 46657184 [A/G] NM_001168359,NM_001010870 TDRD6,TDRD6 EXON Missense_C440Y,Missense_C440Y exm552445 6 46657273 [A/G] NM_001168359,NM_001010870 TDRD6,TDRD6 EXON Missense_D470N,Missense_D470N exm552446 6 46657281 [T/G] NM_001168359,NM_001010870 TDRD6,TDRD6 EXON Missense_E472D,Missense_E472D exm552450 6 46657337 [T/C] NM_001168359,NM_001010870 TDRD6,TDRD6 EXON Missense_A491V,Missense_A491V exm2127644 6 46657421 [T/G] NM_001168359,NM_001010870 TDRD6,TDRD6 EXON Missense_R519I,Missense_R519I exm552455 6 46657511 [A/C] NM_001168359,NM_001010870 TDRD6,TDRD6 EXON Missense_E549A,Missense_E549A exm552456 6 46657514 [A/G] NM_001168359,NM_001010870 TDRD6,TDRD6 EXON Missense_N550S,Missense_N550S exm552457 6 46657528 [A/G] NM_001168359,NM_001010870 TDRD6,TDRD6 EXON Missense_A555T,Missense_A555T exm552466 6 46657722 [T/G] NM_001168359,NM_001010870 TDRD6,TDRD6 EXON Missense_F619L,Missense_F619L exm552467 6 46657760 [A/G] NM_001168359,NM_001010870 TDRD6,TDRD6 EXON Missense_H632R,Missense_H632R exm552469 6 46657792 [A/G] NM_001168359,NM_001010870 TDRD6,TDRD6 EXON Missense_I643V,Missense_I643V exm2127649 6 46657822 [A/G] NM_001168359,NM_001010870 TDRD6,TDRD6 EXON Missense_E653K,Missense_E653K exm552476 6 46657979 [A/G] NM_001168359,NM_001010870 TDRD6,TDRD6 EXON Missense_E705G,Missense_E705G exm552478 6 46658044 [A/G] NM_001168359,NM_001010870 TDRD6,TDRD6 EXON Missense_T727A,Missense_T727A exm552481 6 46658121 [A/G] NM_001168359,NM_001010870 TDRD6,TDRD6 EXON Missense_M752I,Missense_M752I exm552482 6 46658150 [T/C] NM_001168359,NM_001010870 TDRD6,TDRD6 EXON Missense_S762F,Missense_S762F exm552487 6 46658250 [A/G] NM_001168359,NM_001010870 TDRD6,TDRD6 EXON Missense_I795M,Missense_I795M exm552511 6 46658756 [A/G] NM_001168359,NM_001010870 TDRD6,TDRD6 EXON Missense_K964R,Missense_K964R exm2257833 6 46658757 [A/G] NM_001168359,NM_001010870 TDRD6,TDRD6 EXON Synonymous_K964K,Synonymous_K964K exm552512 6 46658792 [T/G] NM_001168359,NM_001010870 TDRD6,TDRD6 EXON Missense_F976C,Missense_F976C exm552514 6 46658819 [A/G] NM_001168359,NM_001010870 TDRD6,TDRD6 EXON Missense_G985E,Missense_G985E exm552522 6 46658905 [C/G] NM_001168359,NM_001010870 TDRD6,TDRD6 EXON Missense_Q1014E,Missense_Q1014E exm552523 6 46658915 [A/G] NM_001168359,NM_001010870 TDRD6,TDRD6 EXON Missense_C1017Y,Missense_C1017Y exm-IND6-46767092 6 46659134 [I/D] NM_001168359,NM_001010870 TDRD6,TDRD6 EXON exm552547 6 46659422 [A/G] NM_001168359,NM_001010870 TDRD6,TDRD6 EXON Missense_N1186S,Missense_N1186S exm552548 6 46659431 [T/G] NM_001168359,NM_001010870 TDRD6,TDRD6 EXON Missense_L1189W,Missense_L1189W exm2127667 6 46659440 [A/C] NM_001168359,NM_001010870 TDRD6,TDRD6 EXON Missense_T1192K,Missense_T1192K exm552551 6 46659565 [A/G] NM_001168359,NM_001010870 TDRD6,TDRD6 EXON Missense_N1234D,Missense_N1234D exm552552 6 46659592 [A/G] NM_001168359,NM_001010870 TDRD6,TDRD6 EXON Missense_V1243M,Missense_V1243M exm552560 6 46659671 [C/G] NM_001168359,NM_001010870 TDRD6,TDRD6 EXON Missense_T1269R,Missense_T1269R exm552569 6 46659780 [T/G] NM_001168359,NM_001010870 TDRD6,TDRD6 EXON Missense_F1305L,Missense_F1305L exm2257834 6 46659849 [A/G] NM_001168359,NM_001010870 TDRD6,TDRD6 EXON Synonymous_E1328E,Synonymous_E1328E exm2274162 6 46659884 [A/G] NM_001168359,NM_001010870 TDRD6,TDRD6 EXON Missense_S1340N,Missense_S1340N exm552571 6 46659901 [A/G] NM_001168359,NM_001010870 TDRD6,TDRD6 EXON Missense_E1346K,Missense_E1346K exm2127671 6 46659911 [T/C] NM_001168359,NM_001010870 TDRD6,TDRD6 EXON Missense_V1349A,Missense_V1349A exm552581 6 46660026 [T/G] NM_001168359,NM_001010870 TDRD6,TDRD6 EXON Missense_F1387L,Missense_F1387L exm552586 6 46660061 [A/G] NM_001168359,NM_001010870 TDRD6,TDRD6 EXON Missense_N1399S,Missense_N1399S exm552588 6 46660093 [A/G] NM_001168359,NM_001010870 TDRD6,TDRD6 EXON Missense_I1410V,Missense_I1410V exm552590 6 46660127 [A/G] NM_001168359,NM_001010870 TDRD6,TDRD6 EXON Missense_Q1421R,Missense_Q1421R exm552591 6 46660160 [A/G] NM_001168359,NM_001010870 TDRD6,TDRD6 EXON Missense_K1432R,Missense_K1432R exm552599 6 46660316 [A/G] NM_001168359,NM_001010870 TDRD6,TDRD6 EXON Missense_Q1484R,Missense_Q1484R exm552609 6 46660495 [T/C] NM_001168359,NM_001010870 TDRD6,TDRD6 EXON Missense_L1544F,Missense_L1544F exm552610 6 46660501 [T/C] NM_001168359,NM_001010870 TDRD6,TDRD6 EXON Missense_C1546R,Missense_C1546R exm552616 6 46660627 [G/C] NM_001168359,NM_001010870 TDRD6,TDRD6 EXON Missense_L1588V,Missense_L1588V exm552618 6 46660657 [A/G] NM_001168359,NM_001010870 TDRD6,TDRD6 EXON Missense_V1598I,Missense_V1598I exm552634 6 46660963 [A/G] NM_001168359,NM_001010870 TDRD6,TDRD6 EXON Missense_K1700E,Missense_K1700E exm552636 6 46661021 [T/C] NM_001168359,NM_001010870 TDRD6,TDRD6 EXON Missense_T1719I,Missense_T1719I exm552641 6 46661146 [A/G] NM_001168359,NM_001010870 TDRD6,TDRD6 EXON Missense_I1761V,Missense_I1761V exm552644 6 46661272 [A/G] NM_001168359,NM_001010870 TDRD6,TDRD6 EXON Missense_D1803N,Missense_D1803N exm552645 6 46661297 [A/G] NM_001168359,NM_001010870 TDRD6,TDRD6 EXON Missense_Y1811C,Missense_Y1811C exm552646 6 46661335 [A/G] NM_001168359,NM_001010870 TDRD6,TDRD6 EXON Missense_N1824D,Missense_N1824D exm552652 6 46661477 [T/C] NM_001168359,NM_001010870 TDRD6,TDRD6 EXON Missense_P1871L,Missense_P1871L exm552653 6 46661479 [T/G] NM_001168359,NM_001010870 TDRD6,TDRD6 EXON Missense_V1872L,Missense_V1872L exm552654 6 46661486 [T/C] NM_001168359,NM_001010870 TDRD6,TDRD6 EXON Missense_P1874L,Missense_P1874L exm552656 6 46661488 [A/G] NM_001168359,NM_001010870 TDRD6,TDRD6 EXON Missense_N1875D,Missense_N1875D exm552657 6 46661498 [T/C] NM_001168359,NM_001010870 TDRD6,TDRD6 EXON Missense_L1878P,Missense_L1878P exm552658 6 46661504 [A/G] NM_001168359,NM_001010870 TDRD6,TDRD6 EXON Missense_Q1880R,Missense_Q1880R exm552662 6 46661534 [T/C] NM_001168359,NM_001010870 TDRD6,TDRD6 EXON Missense_L1890P,Missense_L1890P exm552664 6 46661620 [A/G] NM_001168359,NM_001010870 TDRD6,TDRD6 EXON Missense_K1919E,Missense_K1919E exm552667 6 46661719 [G/C] NM_001168359,NM_001010870 TDRD6,TDRD6 EXON Missense_Q1952E,Missense_Q1952E exm552668 6 46661730 [A/G] NM_001168359,NM_001010870 TDRD6,TDRD6 EXON Missense_M1955I,Missense_M1955I exm552676 6 46661831 [T/C] NM_001168359,NM_001010870 TDRD6,TDRD6 EXON Missense_S1989L,Missense_S1989L exm552678 6 46661865 [A/C] NM_001168359,NM_001010870 TDRD6,TDRD6 EXON Missense_S2000R,Missense_S2000R exm552685 6 46665790 [A/G] NM_001168359,NM_001010870 TDRD6,TDRD6 EXON Silent,Missense_N2076S exm552706 6 46672301 [A/T] NM_005084,NM_001168357 PLA2G7,PLA2G7 EXON Missense_N441I,Missense_N441I exm552707 6 46672346 [T/C] NM_005084,NM_001168357 PLA2G7,PLA2G7 EXON Missense_N426S,Missense_N426S exm552711 6 46672381 [A/C] NM_005084,NM_001168357 PLA2G7,PLA2G7 EXON Missense_E414D,Missense_E414D exm552712 6 46672394 [T/C] NM_005084,NM_001168357 PLA2G7,PLA2G7 EXON Missense_E410G,Missense_E410G exm552714 6 46672913 [A/G] NM_005084,NM_001168357 PLA2G7,PLA2G7 EXON Missense_L389S,Missense_L389S exm552716 6 46672943 [A/G] NM_005084,NM_001168357 PLA2G7,PLA2G7 EXON Missense_V379A,Missense_V379A exm2127694 6 46675778 [T/A] NM_005084,NM_001168357 PLA2G7,PLA2G7 EXON Missense_K330N,Missense_K330N exm2127695 6 46675818 [T/A] NM_005084,NM_001168357 PLA2G7,PLA2G7 EXON Missense_I317N,Missense_I317N exm552722 6 46675861 [A/C] NM_005084,NM_001168357 PLA2G7,PLA2G7 EXON Missense_G303C,Missense_G303C exm552723 6 46677074 [A/G] NM_005084,NM_001168357 PLA2G7,PLA2G7 EXON Nonsense_Q287X,Nonsense_Q287X exm552725 6 46677098 [A/C] NM_005084,NM_001168357 PLA2G7,PLA2G7 EXON Missense_V279F,Missense_V279F exm552727 6 46677100 [A/G] NM_005084,NM_001168357 PLA2G7,PLA2G7 EXON Missense_T278M,Missense_T278M exm552732 6 46678391 [T/C] NM_005084,NM_001168357 PLA2G7,PLA2G7 EXON Missense_R223Q,Missense_R223Q exm552735 6 46679262 [T/C] NM_005084,NM_001168357 PLA2G7,PLA2G7 EXON Missense_E212K,Missense_E212K exm552737 6 46679283 [A/G] NM_005084,NM_001168357 PLA2G7,PLA2G7 EXON Missense_Y205H,Missense_Y205H exm552739 6 46679303 [A/G] NM_005084,NM_001168357 PLA2G7,PLA2G7 EXON Missense_I198T,Missense_I198T exm552741 6 46679323 [G/C] NM_005084,NM_001168357 PLA2G7,PLA2G7 EXON Missense_K191N,Missense_K191N exm2277326 6 46679337 [T/A] NM_005084,NM_001168357 PLA2G7,PLA2G7 EXON Missense_T187S,Missense_T187S exm2244215 6 46684151 [A/G] NM_005084,NM_001168357 PLA2G7,PLA2G7 EXON Missense_L116F,Missense_L116F exm552755 6 46684169 [A/G] NM_005084,NM_001168357 PLA2G7,PLA2G7 EXON Missense_F110L,Missense_F110L exm552756 6 46684222 [T/C] NM_005084,NM_001168357 PLA2G7,PLA2G7 EXON Missense_R92H,Missense_R92H exm552759 6 46684252 [T/C] NM_005084,NM_001168357 PLA2G7,PLA2G7 EXON Missense_R82H,Missense_R82H exm552765 6 46684792 [A/T] NM_005084,NM_001168357 PLA2G7,PLA2G7 EXON Missense_F51I,Missense_F51I exm552766 6 46684794 [T/C] NM_005084,NM_001168357 PLA2G7,PLA2G7 EXON Missense_S50N,Missense_S50N exm552767 6 46684817 [T/C] NM_005084,NM_001168357 PLA2G7,PLA2G7 EXON Missense_I42M,Missense_I42M exm552775 6 46717652 [A/T] NM_001162435 ANKRD66 EXON Missense_M30K exm552781 6 46719818 [T/C] NM_001162435 ANKRD66 EXON Missense_R100W exm2244216 6 46719819 [A/G] NM_001162435 ANKRD66 EXON Missense_R100Q exm552782 6 46719833 [T/C] NM_001162435 ANKRD66 EXON Missense_W105R exm552783 6 46721476 [T/C] NM_001162435 ANKRD66 EXON Missense_R116W exm552789 6 46726464 [C/G] NM_001162435 ANKRD66 EXON Missense_E188Q exm552790 6 46726500 [A/C] NM_001162435 ANKRD66 EXON Missense_Q200K exm552791 6 46726524 [T/C] NM_001162435 ANKRD66 EXON Missense_R208C exm552793 6 46726634 [A/C] NM_001162435 ANKRD66 EXON Missense_S244R exm2127718 6 46761313 [A/G] NM_005588 MEP1A EXON Missense_V32I exm552808 6 46766883 [A/C] NM_005588 MEP1A EXON Missense_T76K exm552818 6 46787394 [T/C] NM_005588 MEP1A EXON Missense_T170M exm552824 6 46793087 [T/C] NM_005588 MEP1A EXON Missense_M212T exm552825 6 46793131 [A/G] NM_005588 MEP1A EXON Missense_T227A exm552831 6 46793192 [T/C] NM_005588 MEP1A EXON Missense_A247V exm552852 6 46800823 [A/G] NM_005588 MEP1A EXON Missense_H386R exm552854 6 46800853 [A/G] NM_005588 MEP1A EXON Missense_K396R exm552855 6 46800896 [T/C] NM_005588 MEP1A EXON Synonymous_G410G exm552866 6 46801071 [T/G] NM_005588 MEP1A EXON Missense_V469L exm552868 6 46801114 [C/G] NM_005588 MEP1A EXON Missense_R483T exm552873 6 46801219 [A/G] NM_005588 MEP1A EXON Missense_R518Q exm552892 6 46803163 [T/C] NM_005588 MEP1A EXON Missense_S654L exm552898 6 46806721 [A/C] NM_005588 MEP1A EXON Missense_I697L exm552905 6 46806778 [A/G] NM_005588 MEP1A EXON Missense_G716S exm552986 6 46826860 [A/G] NM_001098518,NM_015234 GPR116,GPR116 EXON Missense_T927I,Missense_T927I exm552991 6 46826956 [A/G] NM_001098518,NM_015234 GPR116,GPR116 EXON Missense_S895L,Missense_S895L exm553015 6 46830740 [G/C] NM_001098518,NM_015234 GPR116,GPR116 EXON Missense_S695T,Missense_S695T exm553027 6 46834685 [A/G] NM_001098518,NM_015234 GPR116,GPR116 EXON Missense_T604M,Missense_T604M exm553028 6 46834694 [A/G] NM_001098518,NM_015234 GPR116,GPR116 EXON Missense_T601I,Missense_T601I exm553033 6 46834846 [A/C] NM_001098518,NM_015234 GPR116,GPR116 EXON Missense_K550N,Missense_K550N exm553035 6 46836647 [T/C] NM_001098518,NM_015234 GPR116,GPR116 EXON Missense_V532I,Missense_V532I exm553039 6 46836704 [A/G] NM_001098518,NM_015234 GPR116,GPR116 EXON Missense_Y513H,Missense_Y513H exm553040 6 46836736 [A/G] NM_001098518,NM_015234 GPR116,GPR116 EXON Missense_V502A,Missense_V502A exm553047 6 46839699 [A/G] NM_001098518,NM_015234 GPR116,GPR116 EXON Missense_A431V,Missense_A431V exm553049 6 46839747 [T/G] NM_001098518,NM_015234 GPR116,GPR116 EXON Missense_T415N,Missense_T415N exm2127800 6 46845942 [T/G] NM_001098518,NM_015234 GPR116,GPR116 EXON Missense_P413T,Missense_P413T exm553054 6 46846043 [T/A] NM_001098518,NM_015234 GPR116,GPR116 EXON Missense_K379M,Missense_K379M exm553059 6 46847567 [A/G] NM_001098518,NM_015234 GPR116,GPR116 EXON Missense_P342S,Missense_P342S exm2127806 6 46847599 [A/G] NM_001098518,NM_015234 GPR116,GPR116 EXON Missense_S331L,Missense_S331L exm553068 6 46847695 [A/G] NM_001098518,NM_015234 GPR116,GPR116 EXON Missense_S299F,Missense_S299F exm553076 6 46849829 [T/C] NM_001098518,NM_015234 GPR116,GPR116 EXON Missense_G210R,Missense_G210R exm553081 6 46851296 [T/C] NM_001098518,NM_015234 GPR116,GPR116 EXON Synonymous_A204A,Synonymous_A204A exm553084 6 46851334 [T/C] NM_001098518,NM_015234 GPR116,GPR116 EXON Missense_A192T,Missense_A192T exm553086 6 46851360 [T/C] NM_001098518,NM_015234 GPR116,GPR116 EXON Missense_Q183R,Missense_Q183R exm553087 6 46851366 [T/C] NM_001098518,NM_015234 GPR116,GPR116 EXON Missense_G181D,Missense_G181D exm553092 6 46851913 [A/G] NM_001098518,NM_015234 GPR116,GPR116 EXON Missense_R142C,Missense_R142C exm553095 6 46851949 [A/G] NM_001098518,NM_015234 GPR116,GPR116 EXON Missense_R130W,Missense_R130W exm553100 6 46856105 [T/C] NM_001098518,NM_015234 GPR116,GPR116 EXON Missense_I99V,Missense_I99V exm553105 6 46856228 [A/G] NM_001098518,NM_015234 GPR116,GPR116 EXON Missense_P58S,Missense_P58S exm553108 6 46867766 [T/C] NM_001098518,NM_015234 GPR116,GPR116 EXON Missense_V53I,Missense_V53I exm553109 6 46867767 [A/G] NM_001098518,NM_015234 GPR116,GPR116 EXON Synonymous_A52A,Synonymous_A52A exm553110 6 46867771 [T/C] NM_001098518,NM_015234 GPR116,GPR116 EXON Missense_R51Q,Missense_R51Q exm2257836 6 46911748 [A/C] NM_015234 GPR116 Silent exm2127832 6 46975021 [T/A] NM_153840 GPR110 EXON Missense_I834N exm553133 6 46976760 [T/C] NM_153840 GPR110 EXON Nonsense_W804X exm553134 6 46976764 [T/G] NM_153840 GPR110 EXON Missense_T803P exm553136 6 46976812 [T/C] NM_153840 GPR110 EXON Missense_I787V exm2127839 6 46977009 [A/G] NM_153840 GPR110 EXON Missense_T721M exm553157 6 46977198 [A/G] NM_153840 GPR110 EXON Missense_T658I exm553158 6 46977225 [A/G] NM_153840 GPR110 EXON Missense_T649I exm553162 6 46977246 [A/G] NM_153840 GPR110 EXON Missense_I642T exm553166 6 46977300 [A/C] NM_153840 GPR110 EXON Missense_R624L exm553167 6 46977301 [A/G] NM_153840 GPR110 EXON Missense_R624C exm553169 6 46977304 [A/G] NM_153840 GPR110 EXON Missense_R623C exm553177 6 46977452 [T/C] NM_153840 GPR110 EXON Missense_M573I exm553178 6 46977458 [T/C] NM_153840 GPR110 EXON Missense_I571M exm553188 6 46977535 [T/C] NM_153840 GPR110 EXON Missense_D546N exm553197 6 46977720 [A/G] NM_153840 GPR110 EXON Missense_S484L exm553199 6 46977783 [T/C] NM_153840 GPR110 EXON Missense_R463H exm553200 6 46977786 [G/C] NM_153840 GPR110 EXON Missense_G462A exm553201 6 46977827 [C/G] NM_153840 GPR110 EXON Missense_Q448H exm553203 6 46977843 [G/C] NM_153840 GPR110 EXON Missense_R443T exm2127845 6 46977849 [A/T] NM_153840 GPR110 EXON Missense_L441H exm553208 6 46977894 [T/C] NM_153840 GPR110 EXON Missense_R426Q exm553216 6 46978028 [G/C] NM_153840 GPR110 EXON Missense_I381M exm553217 6 46978038 [A/G] NM_153840 GPR110 EXON Missense_A378V exm553218 6 46979756 [T/C] NM_153840 GPR110 EXON Missense_N368S exm553234 6 46982523 [A/G] NM_153840 GPR110 EXON Missense_P274L exm553243 6 46984436 [A/G] NM_153840 GPR110 EXON Missense_I227T exm553250 6 46988467 [T/C] NM_153840,NM_025048 GPR110,GPR110 EXON Missense_R204Q,Missense_R204Q exm553251 6 46988476 [A/G] NM_153840,NM_025048 GPR110,GPR110 EXON Missense_T201I,Missense_T201I exm553257 6 46989759 [T/C] NM_153840,NM_025048 GPR110,GPR110 EXON Missense_T163A,Missense_T163A exm553267 6 46991943 [C/G] NM_153840,NM_025048 GPR110,GPR110 EXON Missense_S96R,Missense_S96R exm553277 6 46993734 [A/C] NM_153840,NM_025048 GPR110,GPR110 EXON Missense_V45F,Missense_V45F exm553283 6 46995484 [A/G] NM_153840,NM_025048 GPR110,GPR110 EXON Missense_I28T,Missense_I28T exm553292 6 46996760 [A/G] NM_153840,NM_025048 GPR110,GPR110 EXON Missense_T13I,Missense_T13I exm-rs937055 6 47086952 [T/C] exm2262134 6 47094118 [T/G] exm553304 6 47200703 [A/C] NM_014452 TNFRSF21 EXON Missense_V589G exm553316 6 47202564 [T/C] NM_014452 TNFRSF21 EXON Missense_N527S exm553325 6 47221066 [T/C] NM_014452 TNFRSF21 EXON Missense_I479V exm-rs2103868 6 47230615 [A/G] NM_014452 TNFRSF21 Silent exm553335 6 47251758 [T/C] NM_014452 TNFRSF21 EXON Missense_A387T exm553336 6 47251772 [T/C] NM_014452 TNFRSF21 EXON Missense_R382Q exm553337 6 47251773 [A/G] NM_014452 TNFRSF21 EXON Missense_R382W exm553340 6 47251827 [A/C] NM_014452 TNFRSF21 EXON Missense_V364L exm553341 6 47251900 [G/C] NM_014452 TNFRSF21 EXON Missense_N339K exm553345 6 47252045 [A/G] NM_014452 TNFRSF21 EXON Missense_T291I exm553346 6 47252055 [T/C] NM_014452 TNFRSF21 EXON Missense_V288M exm553354 6 47253703 [C/G] NM_014452 TNFRSF21 EXON Missense_P242R exm553361 6 47253884 [T/C] NM_014452 TNFRSF21 EXON Missense_S182G exm553366 6 47253985 [A/G] NM_014452 TNFRSF21 EXON Missense_T148M exm553379 6 47254244 [T/C] NM_014452 TNFRSF21 EXON Missense_G62S exm553383 6 47277181 [A/C] NM_014452 TNFRSF21 EXON Missense_A23S exm553395 6 47471175 [A/C] NM_012120 CD2AP EXON Missense_K55T exm553397 6 47501354 [T/C] NM_012120 CD2AP EXON Missense_T61M exm553418 6 47541809 [T/C] NM_012120 CD2AP EXON Missense_L184S exm553419 6 47541811 [T/G] NM_012120 CD2AP EXON Missense_A185S exm2277327 6 47541893 [T/G] NM_012120 CD2AP EXON Missense_R212L exm553424 6 47541940 [T/C] NM_012120 CD2AP EXON Missense_R228W exm553456 6 47563608 [A/G] NM_012120 CD2AP EXON Missense_T374A exm553460 6 47563669 [A/C] NM_012120 CD2AP EXON Missense_P394Q exm553476 6 47573971 [A/G] NM_012120 CD2AP EXON Missense_M496I exm553485 6 47576899 [T/C] NM_012120 CD2AP EXON Missense_A558V exm553487 6 47576937 [A/G] NM_012120 CD2AP EXON Missense_A571T exm553489 6 47576969 [A/T] NM_012120 CD2AP EXON Missense_N581K exm553500 6 47591922 [A/G] NM_012120 CD2AP EXON Missense_M627V exm553502 6 47591941 [A/G] NM_012120 CD2AP EXON Missense_K633R exm2266190 6 47623292 [A/G] exm553520 6 47646842 [A/G] NM_153839 GPR111 EXON Missense_Q80R exm553526 6 47647898 [A/G] NM_153839 GPR111 EXON Missense_Q120R exm553532 6 47648033 [A/G] NM_153839 GPR111 EXON Missense_K165R exm553534 6 47649080 [A/G] NM_153839 GPR111 EXON Missense_S194N exm553543 6 47649169 [A/G] NM_153839 GPR111 EXON Missense_T224A exm553544 6 47649185 [T/C] NM_153839 GPR111 EXON Missense_I229T exm553550 6 47649265 [T/A] NM_153839 GPR111 EXON Missense_L256M exm2244236 6 47649356 [A/G] NM_153839 GPR111 EXON Missense_S286N exm2257839 6 47649573 [T/C] NM_153839 GPR111 EXON Synonymous_S358S exm553558 6 47649574 [A/G] NM_153839 GPR111 EXON Missense_K359E exm553564 6 47649694 [A/G] NM_153839 GPR111 EXON Missense_I399V exm553565 6 47649745 [T/C] NM_153839 GPR111 EXON Missense_R416C exm553568 6 47649849 [T/G] NM_153839 GPR111 EXON Missense_C450W exm553577 6 47650064 [A/G] NM_153839 GPR111 EXON Missense_R522Q exm553578 6 47650092 [A/C] NM_153839 GPR111 EXON Missense_D531E exm553585 6 47650196 [T/C] NM_153839 GPR111 EXON Missense_I566T exm553587 6 47650255 [A/G] NM_153839 GPR111 EXON Missense_I586V exm553593 6 47650349 [T/C] NM_153839 GPR111 EXON Missense_L617P exm553600 6 47654748 [A/T] NM_153839 GPR111 EXON Missense_F628L exm553602 6 47658337 [A/G] NM_153839 GPR111 EXON Silent exm553604 6 47675014 [G/C] NM_153838 GPR115 EXON Missense_C11W exm553621 6 47680123 [A/G] NM_153838 GPR115 EXON Missense_A111T exm553624 6 47680159 [T/C] NM_153838 GPR115 EXON Nonsense_R123X exm553627 6 47680256 [T/C] NM_153838 GPR115 EXON Missense_T155I exm553632 6 47680331 [A/G] NM_153838 GPR115 EXON Missense_R180Q exm553633 6 47680335 [G/C] NM_153838 GPR115 EXON Missense_E181D exm553644 6 47681711 [T/G] NM_153838 GPR115 EXON Missense_G244W exm553645 6 47681718 [A/G] NM_153838 GPR115 EXON Missense_H246R exm553651 6 47681925 [A/G] NM_153838 GPR115 EXON Missense_Q315R exm553653 6 47681981 [C/G] NM_153838 GPR115 EXON Missense_L334V exm553654 6 47681990 [A/G] NM_153838 GPR115 EXON Missense_E337K exm2275889 6 47682009 [A/G] NM_153838 GPR115 EXON Missense_R343H exm553661 6 47682110 [T/C] NM_153838 GPR115 EXON Missense_R377C exm553662 6 47682128 [A/G] NM_153838 GPR115 EXON Missense_V383M exm553663 6 47682131 [T/G] NM_153838 GPR115 EXON Missense_V384L exm553665 6 47682135 [T/C] NM_153838 GPR115 EXON Missense_M385T exm553667 6 47682158 [T/C] NM_153838 GPR115 EXON Missense_S393P exm553674 6 47682206 [T/C] NM_153838 GPR115 EXON Missense_L409F exm553676 6 47682212 [A/G] NM_153838 GPR115 EXON Missense_V411I exm553678 6 47682240 [T/C] NM_153838 GPR115 EXON Missense_L420P exm553681 6 47682267 [A/G] NM_153838 GPR115 EXON Missense_R429Q exm2127983 6 47682269 [A/G] NM_153838 GPR115 EXON Missense_V430M exm553685 6 47682297 [A/G] NM_153838 GPR115 EXON Missense_R439H exm553693 6 47682411 [T/C] NM_153838 GPR115 EXON Missense_T477I exm553697 6 47682500 [T/C] NM_153838 GPR115 EXON Missense_R507C exm553698 6 47682501 [A/G] NM_153838 GPR115 EXON Missense_R507H exm553701 6 47682519 [A/G] NM_153838 GPR115 EXON Missense_R513Q exm553706 6 47682604 [A/C] NM_153838 GPR115 EXON Missense_K541N exm553709 6 47682671 [A/G] NM_153838 GPR115 EXON Missense_I564V exm553713 6 47682682 [C/G] NM_153838 GPR115 EXON Missense_F567L exm553717 6 47682806 [A/G] NM_153838 GPR115 EXON Missense_I609V exm553732 6 47684573 [T/C] NM_153838 GPR115 EXON Missense_M655T exm553742 6 47686153 [G/C] NM_153838 GPR115 EXON Missense_S688C exm553744 6 47686168 [A/G] NM_153838 GPR115 EXON Missense_R693H exm2270471 6 47703259 [T/C] exm553752 6 47749840 [A/G] NM_181744 OPN5 EXON Missense_R13H exm553754 6 47749854 [T/C] NM_181744 OPN5 EXON Missense_L18F exm553755 6 47749882 [A/G] NM_181744 OPN5 EXON Missense_K27R exm553778 6 47763141 [A/C] NM_181744,NR_033806 OPN5,OPN5 EXON Missense_I200L,Silent exm553801 6 47846125 [T/C] NM_001013732 PTCHD4 EXON Missense_K819E exm553806 6 47846233 [T/C] NM_001013732 PTCHD4 EXON Missense_T783A exm553811 6 47846362 [T/C] NM_001013732 PTCHD4 EXON Missense_T740A exm553825 6 47846746 [A/C] NM_001013732 PTCHD4 EXON Missense_A612S exm553828 6 47846821 [T/G] NM_001013732 PTCHD4 EXON Missense_H587N exm553843 6 47847262 [G/C] NM_001013732 PTCHD4 EXON Missense_P440A exm553850 6 47847370 [T/C] NM_001013732 PTCHD4 EXON Missense_I404V exm553851 6 47847381 [T/C] NM_001013732 PTCHD4 EXON Missense_R400H exm553859 6 47869671 [G/C] NM_001013732,NM_207499 PTCHD4,PTCHD4 EXON Silent,Missense_G303A exm553896 6 47976708 [A/G] NM_001013732,NM_207499 PTCHD4,PTCHD4 EXON Missense_I190T,Missense_I190T exm553901 6 48035985 [T/C] NM_001013732,NM_207499 PTCHD4,PTCHD4 EXON Missense_R136Q,Missense_R136Q exm553902 6 48036033 [A/G] NM_001013732,NM_207499 PTCHD4,PTCHD4 EXON Missense_T120I,Missense_T120I exm553904 6 48036051 [A/C] NM_001013732,NM_207499 PTCHD4,PTCHD4 EXON Missense_V114G,Missense_V114G exm553914 6 48036327 [A/C] NM_001013732,NM_207499 PTCHD4,PTCHD4 EXON Missense_V22G,Missense_V22G exm2264171 6 48329893 [A/C] exm2270472 6 48608329 [T/C] exm-rs243125 6 48631508 [T/C] exm2257841 6 48733552 [T/G] exm2266310 6 48964065 [A/G] exm-rs9369842 6 48994615 [T/C] exm2266191 6 49288384 [A/G] exm553928 6 49403267 [T/C] NM_000255 MUT EXON Missense_A676T exm553929 6 49403282 [T/C] NM_000255 MUT EXON Missense_I671V exm553941 6 49409599 [A/G] NM_000255 MUT EXON Missense_R588C exm553950 6 49412433 [T/C] NM_000255 MUT EXON Missense_R532H exm553953 6 49412463 [T/C] NM_000255 MUT EXON Missense_K522R exm553954 6 49415384 [T/G] NM_000255 MUT EXON Missense_K520T exm553959 6 49415448 [T/C] NM_000255 MUT EXON Missense_A499T exm553962 6 49416556 [A/C] NM_000255 MUT EXON Missense_A473S exm553963 6 49416568 [T/C] NM_000255 MUT EXON Missense_E469K exm553973 6 49419386 [T/C] NM_000255 MUT EXON Missense_M375I exm553974 6 49419396 [A/G] NM_000255 MUT EXON Missense_I372T exm553976 6 49421373 [T/C] NM_000255 MUT EXON Missense_M336I exm553977 6 49423826 [T/C] NM_000255 MUT EXON Missense_Q293R exm553978 6 49423868 [T/C] NM_000255 MUT EXON Missense_Y279C exm553988 6 49425591 [T/C] NM_000255 MUT EXON Missense_N189S exm2128082 6 49425696 [T/C] NM_000255 MUT EXON Missense_R154H exm553994 6 49426896 [A/G] NM_000255 MUT EXON Missense_P95L exm553997 6 49426975 [T/C] NM_000255 MUT EXON Missense_I69V exm554003 6 49437923 [A/G] NM_018132 CENPQ EXON Missense_A12T exm554007 6 49439790 [A/G] NM_018132 CENPQ EXON Missense_T58A exm554009 6 49439805 [A/G] NM_018132 CENPQ EXON Missense_G63R exm554025 6 49459870 [T/C] NM_018132 CENPQ EXON Missense_A230V exm554030 6 49459927 [C/G] NM_018132 CENPQ EXON Nonsense_S249X exm554032 6 49459966 [A/G] NM_018132 CENPQ EXON Missense_Y262C exm554033 6 49459978 [A/G] NM_018132 CENPQ EXON Missense_D266G exm554035 6 49479750 [T/C] NM_001010904 GLYATL3 EXON Missense_M16T exm554044 6 49485264 [T/C] NM_001010904 GLYATL3 EXON Missense_I103T exm554045 6 49485266 [A/C] NM_001010904 GLYATL3 EXON Missense_Q104K exm-rs9473582 6 49488908 [A/C] NM_001010904 GLYATL3 Silent exm554047 6 49489397 [A/C] NM_001010904 GLYATL3 EXON Missense_A118D exm554051 6 49494241 [A/G] NM_001010904 GLYATL3 EXON Missense_N161D exm554074 6 49518914 [G/C] NM_001145652 C6orf141 EXON Missense_Q137E exm554081 6 49519048 [T/G] NM_001145652 C6orf141 EXON Missense_M181I exm554084 6 49519119 [A/G] NM_001145652 C6orf141 EXON Missense_E205G exm554086 6 49519169 [T/C] NM_001145652 C6orf141 EXON Missense_S222P exm554094 6 49574598 [T/G] NM_000324 RHAG EXON Missense_S392Y exm554096 6 49574626 [T/G] NM_000324 RHAG EXON Missense_L383I exm554100 6 49574896 [T/C] NM_000324 RHAG EXON Missense_I369V exm554115 6 49580247 [T/C] NM_000324 RHAG EXON Missense_V270I exm554133 6 49586977 [T/C] NM_000324 RHAG EXON Missense_V86I exm554135 6 49587024 [A/G] NM_000324 RHAG EXON Missense_T70I exm554136 6 49587034 [A/G] NM_000324 RHAG EXON Missense_F67L exm554141 6 49604402 [T/C] NM_000324 RHAG EXON Missense_T42A exm554142 6 49604443 [A/G] NM_000324 RHAG EXON Missense_T28M exm554143 6 49604462 [A/G] NM_000324 RHAG EXON Synonymous_L22L exm2257843 6 49616512 [A/G] exm554153 6 49663547 [A/T] NM_001142417,NM_001142435,NM_001142407,NM_003296,NM_001261822,NM_001142408 CRISP2,CRISP2,CRISP2,CRISP2,CRISP2,CRISP2 Silent,Silent,Silent,Silent,Silent,Silent exm554154 6 49663567 [A/G] NM_001142417,NM_001142435,NM_001142407,NM_003296,NM_001261822,NM_001142408 CRISP2,CRISP2,CRISP2,CRISP2,CRISP2,CRISP2 EXON Missense_C196R,Missense_C196R,Missense_C196R,Missense_C196R,Missense_C196R,Missense_C196R exm2128131 6 49663608 [A/G] NM_001142417,NM_001142435,NM_001142407,NM_003296,NM_001261822,NM_001142408 CRISP2,CRISP2,CRISP2,CRISP2,CRISP2,CRISP2 EXON Missense_P182L,Missense_P182L,Missense_P182L,Missense_P182L,Missense_P182L,Missense_P182L exm554165 6 49665670 [C/G] NM_001142417,NM_001142435,NM_001142407,NM_003296,NM_001261822,NM_001142408 CRISP2,CRISP2,CRISP2,CRISP2,CRISP2,CRISP2 EXON Missense_L140V,Missense_L140V,Missense_L140V,Missense_L140V,Missense_L140V,Missense_L140V exm554169 6 49666100 [T/C] NM_001142417,NM_001142435,NM_001142407,NM_003296,NM_001261822,NM_001142408 CRISP2,CRISP2,CRISP2,CRISP2,CRISP2,CRISP2 EXON Missense_N131S,Missense_N131S,Missense_N131S,Missense_N131S,Missense_N131S,Missense_N131S exm554170 6 49666112 [C/G] NM_001142417,NM_001142435,NM_001142407,NM_003296,NM_001261822,NM_001142408 CRISP2,CRISP2,CRISP2,CRISP2,CRISP2,CRISP2 EXON Missense_P127R,Missense_P127R,Missense_P127R,Missense_P127R,Missense_P127R,Missense_P127R exm2128135 6 49666116 [G/C] NM_001142417,NM_001142435,NM_001142407,NM_003296,NM_001261822,NM_001142408 CRISP2,CRISP2,CRISP2,CRISP2,CRISP2,CRISP2 EXON Missense_G126R,Missense_G126R,Missense_G126R,Missense_G126R,Missense_G126R,Missense_G126R exm2128136 6 49666173 [A/G] NM_001142417,NM_001142435,NM_001142407,NM_003296,NM_001261822,NM_001142408 CRISP2,CRISP2,CRISP2,CRISP2,CRISP2,CRISP2 EXON Missense_W107R,Missense_W107R,Missense_W107R,Missense_W107R,Missense_W107R,Missense_W107R exm554173 6 49666215 [T/C] NM_001142417,NM_001142435,NM_001142407,NM_003296,NM_001261822,NM_001142408 CRISP2,CRISP2,CRISP2,CRISP2,CRISP2,CRISP2 EXON Missense_R93G,Missense_R93G,Missense_R93G,Missense_R93G,Missense_R93G,Missense_R93G exm554178 6 49667569 [A/C] NM_001142417,NM_001142435,NM_001142407,NM_003296,NM_001261822,NM_001142408 CRISP2,CRISP2,CRISP2,CRISP2,CRISP2,CRISP2 EXON Missense_R73S,Missense_R73S,Missense_R73S,Missense_R73S,Missense_R73S,Missense_R73S exm554180 6 49667582 [A/G] NM_001142417,NM_001142435,NM_001142407,NM_003296,NM_001261822,NM_001142408 CRISP2,CRISP2,CRISP2,CRISP2,CRISP2,CRISP2 EXON Missense_T69M,Missense_T69M,Missense_T69M,Missense_T69M,Missense_T69M,Missense_T69M exm554204 6 49698936 [T/G] NM_001190986,NM_006061 CRISP3,CRISP3 EXON Missense_P207T,Missense_P197T exm554212 6 49701439 [A/C] NM_001190986,NM_006061 CRISP3,CRISP3 EXON Missense_A157S,Missense_A147S exm554214 6 49701456 [G/C] NM_001190986,NM_006061 CRISP3,CRISP3 EXON Missense_G151A,Missense_G141A exm554215 6 49701469 [T/C] NM_001190986,NM_006061 CRISP3,CRISP3 EXON Missense_D147N,Missense_D137N exm554218 6 49701523 [A/G] NM_001190986,NM_006061 CRISP3,CRISP3 EXON Missense_S129P,Missense_S119P exm554220 6 49701537 [T/G] NM_001190986,NM_006061 CRISP3,CRISP3 EXON Missense_Y124S,Missense_Y114S exm554223 6 49703225 [T/C] NM_001190986,NM_006061 CRISP3,CRISP3 EXON Missense_R113Q,Missense_R103Q exm554230 6 49704169 [T/G] NM_001190986,NM_006061 CRISP3,CRISP3 EXON Missense_I65L,Missense_I55L exm554240 6 49753706 [T/G] NM_138733 PGK2 EXON Missense_S399R exm554242 6 49753726 [T/A] NM_138733 PGK2 EXON Missense_V392D exm554243 6 49753741 [T/C] NM_138733 PGK2 EXON Missense_D387G exm554244 6 49753756 [T/C] NM_138733 PGK2 EXON Missense_K382R exm554246 6 49753841 [T/C] NM_138733 PGK2 EXON Missense_A354T exm554247 6 49753882 [A/G] NM_138733 PGK2 EXON Missense_L340S exm554251 6 49753940 [T/G] NM_138733 PGK2 EXON Missense_N321H exm554253 6 49754015 [T/C] NM_138733 PGK2 EXON Missense_A296T exm554254 6 49754021 [T/C] NM_138733 PGK2 EXON Missense_E294K exm554264 6 49754227 [T/C] NM_138733 PGK2 EXON Missense_K225R exm554269 6 49754302 [A/G] NM_138733 PGK2 EXON Missense_A200V exm2244251 6 49754423 [T/C] NM_138733 PGK2 EXON Missense_V160I exm554279 6 49754446 [A/G] NM_138733 PGK2 EXON Missense_A152V exm554281 6 49754494 [C/G] NM_138733 PGK2 EXON Missense_S136C exm2257844 6 49754496 [A/G] NM_138733 PGK2 EXON Synonymous_P135P exm554285 6 49754534 [A/G] NM_138733 PGK2 EXON Missense_R123C exm554298 6 49754822 [T/C] NM_138733 PGK2 EXON Missense_V27I exm2128177 6 49806156 [T/G] NM_001205220,NM_001131,NM_170609 CRISP1,CRISP1,CRISP1 EXON Missense_L206I,Missense_L206I,Silent exm554306 6 49806183 [T/C] NM_001205220,NM_001131,NM_170609 CRISP1,CRISP1,CRISP1 EXON Missense_A197T,Missense_A197T,Silent exm554311 6 49808642 [A/G] NM_001205220,NM_001131,NM_170609 CRISP1,CRISP1,CRISP1 EXON Nonsense_R168X,Nonsense_R168X,Nonsense_R168X exm554313 6 49808680 [T/C] NM_001205220,NM_001131,NM_170609 CRISP1,CRISP1,CRISP1 EXON Missense_G155D,Missense_G155D,Missense_G155D exm554319 6 49814267 [A/G] NM_001205220,NM_001131,NM_170609 CRISP1,CRISP1,CRISP1 EXON Missense_T134M,Missense_T134M,Missense_T134M exm2128184 6 49814306 [T/C] NM_001205220,NM_001131,NM_170609 CRISP1,CRISP1,CRISP1 EXON Missense_S121N,Missense_S121N,Missense_S121N exm554324 6 49814379 [T/C] NM_001205220,NM_001131,NM_170609 CRISP1,CRISP1,CRISP1 EXON Missense_T97A,Missense_T97A,Missense_T97A exm2128191 6 49815943 [A/G] NM_001205220,NM_001131,NM_170609 CRISP1,CRISP1,CRISP1 EXON Missense_P89S,Missense_P89S,Missense_P89S exm2275890 6 49815997 [A/C] NM_001205220,NM_001131,NM_170609 CRISP1,CRISP1,CRISP1 EXON Missense_A71S,Missense_A71S,Missense_A71S exm554330 6 49819725 [T/C] NM_001205220,NM_001131,NM_170609 CRISP1,CRISP1,CRISP1 EXON Missense_M62V,Missense_M62V,Missense_M62V exm554340 6 49819840 [A/C] NM_001205220,NM_001131,NM_170609 CRISP1,CRISP1,CRISP1 EXON Missense_K23N,Missense_K23N,Missense_K23N exm554341 6 49819844 [T/G] NM_001205220,NM_001131,NM_170609 CRISP1,CRISP1,CRISP1 Silent,Silent,Silent exm554346 6 49913837 [C/G] NM_001166478 DEFB133 EXON Missense_L55V exm554348 6 49913927 [T/C] NM_001166478 DEFB133 EXON Missense_V25M exm554357 6 49928111 [A/C] NM_001037499 DEFB114 EXON Missense_R35L exm554375 6 49936445 [T/C] NM_001037729 DEFB113 EXON Nonsense_W65X exm554377 6 49936451 [A/G] NM_001037729 DEFB113 EXON Missense_A63V exm554380 6 49936469 [T/C] NM_001037729 DEFB113 EXON Missense_N57S exm554381 6 49936493 [T/C] NM_001037729 DEFB113 EXON Nonsense_W49X exm554382 6 49936508 [A/G] NM_001037729 DEFB113 EXON Missense_P44L exm554393 6 49937323 [T/G] NM_001037729 DEFB113 EXON Missense_I6L exm554395 6 49976883 [A/G] NM_001037728 DEFB110 EXON Missense_C53R exm554401 6 49976960 [T/C] NM_001037728 DEFB110 EXON Missense_Y27C exm554418 6 49989597 [A/G] NM_001037728,NM_001037497 DEFB110,DEFB110 EXON Missense_P18S,Missense_P18S exm554424 6 50011307 [A/G] NM_001037498 DEFB112 EXON Missense_P108L exm554427 6 50011361 [A/G] NM_001037498 DEFB112 EXON Missense_T90M exm554434 6 50011449 [A/G] NM_001037498 DEFB112 EXON Missense_C61R exm554435 6 50011452 [A/G] NM_001037498 DEFB112 EXON Nonsense_R60X exm2262138 6 50011796 [T/C] NM_001037498 DEFB112 Silent exm554442 6 50016345 [A/G] NM_001037498 DEFB112 EXON Missense_I7T exm2266193 6 50279484 [A/G] exm554448 6 50681803 [A/C] NM_172238 TFAP2D EXON Missense_A12D exm554460 6 50683009 [T/C] NM_172238 TFAP2D EXON Missense_F74L exm554499 6 50740488 [A/G] NM_172238 TFAP2D EXON Missense_G424S exm2244254 6 50740545 [A/G] NM_172238 TFAP2D EXON Missense_V443M exm-rs2206277 6 50798526 [T/C] NM_003221 TFAP2B Silent exm-rs987237 6 50803050 [A/G] NM_003221 TFAP2B Silent exm554529 6 50803842 [A/G] NM_003221 TFAP2B EXON Missense_V224I exm554535 6 50807934 [A/G] NM_003221 TFAP2B EXON Missense_V336I exm554548 6 50811026 [A/C] NM_003221 TFAP2B EXON Missense_N435T exm2270321 6 50966474 [T/C] exm-rs190759 6 50987768 [A/G] exm-rs283566 6 51058721 [G/C] exm-rs1555967 6 51159995 [A/G] exm2264199 6 51169536 [A/C] exm2270322 6 51248309 [T/C] exm554563 6 51483961 [T/C] NM_138694 PKHD1 EXON Missense_Q4048R exm554564 6 51483962 [A/G] NM_138694 PKHD1 EXON Nonsense_Q4048X exm554568 6 51483994 [A/G] NM_138694 PKHD1 EXON Missense_L4037P exm554572 6 51484077 [G/C] NM_138694 PKHD1 EXON Nonsense_Y4009X exm554580 6 51484226 [T/C] NM_138694 PKHD1 EXON Missense_V3960I exm554592 6 51491842 [T/C] NM_138694 PKHD1 EXON Missense_R3913H exm554593 6 51491843 [A/G] NM_138694 PKHD1 EXON Missense_R3913C exm554595 6 51491866 [T/A] NM_138694 PKHD1 EXON Missense_I3905N exm554602 6 51497503 [A/C] NM_138694 PKHD1 EXON Missense_R3842L exm554603 6 51497519 [T/C] NM_138694 PKHD1 EXON Missense_V3837I exm554607 6 51503753 [T/C] NM_138694 PKHD1 EXON Synonymous_G3800G exm554609 6 51512889 [A/G] NM_138694 PKHD1 EXON Missense_P3780S exm554611 6 51513918 [T/G] NM_138694 PKHD1 EXON Missense_P3759T exm554617 6 51523922 [A/C] NM_138694 PKHD1 EXON Missense_D3668Y exm554618 6 51523951 [A/G] NM_138694 PKHD1 EXON Missense_I3658T exm554620 6 51523998 [T/C] NM_138694 PKHD1 EXON Missense_M3642I exm554623 6 51524015 [A/G] NM_138694 PKHD1 EXON Missense_R3637C exm554624 6 51524036 [A/G] NM_138694 PKHD1 EXON Missense_H3630Y exm554625 6 51524065 [T/C] NM_138694 PKHD1 EXON Missense_R3620H exm554635 6 51524258 [A/G] NM_138694 PKHD1 EXON Missense_R3556C exm554638 6 51524339 [C/G] NM_138694 PKHD1 EXON Missense_E3529Q exm554640 6 51524393 [T/C] NM_138694 PKHD1 EXON Missense_G3511R exm554642 6 51524409 [T/G] NM_138694 PKHD1 EXON Missense_S3505R exm554646 6 51524455 [G/C] NM_138694 PKHD1 EXON Missense_S3490T exm554659 6 51524714 [T/C] NM_138694 PKHD1 EXON Missense_I3404V exm554670 6 51609303 [A/G] NM_138694,NM_170724 PKHD1,PKHD1 EXON Missense_C3346R,Missense_C3346R exm554671 6 51609308 [A/G] NM_138694,NM_170724 PKHD1,PKHD1 EXON Missense_L3344S,Missense_L3344S exm2270474 6 51611470 [T/C] NM_138694,NM_170724 PKHD1,PKHD1 Silent,Silent exm554675 6 51611592 [T/C] NM_138694,NM_170724 PKHD1,PKHD1 EXON Missense_I3309V,Missense_I3309V exm554676 6 51611604 [T/C] NM_138694,NM_170724 PKHD1,PKHD1 EXON Missense_I3305V,Missense_I3305V exm554678 6 51611651 [A/C] NM_138694,NM_170724 PKHD1,PKHD1 EXON Missense_S3289I,Missense_S3289I exm554681 6 51612626 [A/G] NM_138694,NM_170724 PKHD1,PKHD1 EXON Missense_V3263A,Missense_V3263A exm554691 6 51612837 [T/C] NM_138694,NM_170724 PKHD1,PKHD1 EXON Missense_V3193I,Missense_V3193I exm2257851 6 51612838 [A/G] NM_138694,NM_170724 PKHD1,PKHD1 EXON Synonymous_S3192S,Synonymous_S3192S exm554694 6 51612861 [T/C] NM_138694,NM_170724 PKHD1,PKHD1 EXON Missense_V3185I,Missense_V3185I exm554696 6 51612884 [A/G] NM_138694,NM_170724 PKHD1,PKHD1 EXON Missense_I3177T,Missense_I3177T exm554699 6 51612921 [T/C] NM_138694,NM_170724 PKHD1,PKHD1 EXON Missense_V3165M,Missense_V3165M exm554701 6 51612936 [A/G] NM_138694,NM_170724 PKHD1,PKHD1 EXON Missense_H3160Y,Missense_H3160Y exm554702 6 51612999 [A/C] NM_138694,NM_170724 PKHD1,PKHD1 EXON Missense_D3139Y,Missense_D3139Y exm2257852 6 51613051 [A/G] NM_138694,NM_170724 PKHD1,PKHD1 EXON Synonymous_N3121N,Synonymous_N3121N exm554714 6 51613152 [T/C] NM_138694,NM_170724 PKHD1,PKHD1 EXON Missense_D3088N,Missense_D3088N exm554715 6 51613158 [T/C] NM_138694,NM_170724 PKHD1,PKHD1 EXON Missense_V3086I,Missense_V3086I exm554716 6 51613173 [T/C] NM_138694,NM_170724 PKHD1,PKHD1 EXON Missense_I3081V,Missense_I3081V exm2257853 6 51613177 [T/C] NM_138694,NM_170724 PKHD1,PKHD1 EXON Synonymous_A3079A,Synonymous_A3079A exm554718 6 51613199 [A/G] NM_138694,NM_170724 PKHD1,PKHD1 EXON Missense_A3072V,Missense_A3072V exm554720 6 51613260 [A/C] NM_138694,NM_170724 PKHD1,PKHD1 EXON Missense_D3052Y,Missense_D3052Y exm554743 6 51637536 [T/G] NM_138694,NM_170724 PKHD1,PKHD1 EXON Missense_T2869K,Missense_T2869K exm554744 6 51637561 [T/C] NM_138694,NM_170724 PKHD1,PKHD1 EXON Missense_S2861G,Missense_S2861G exm554746 6 51640639 [T/C] NM_138694,NM_170724 PKHD1,PKHD1 EXON Missense_M2841V,Missense_M2841V exm554753 6 51656064 [T/C] NM_138694,NM_170724 PKHD1,PKHD1 EXON Missense_M2804V,Missense_M2804V exm554757 6 51656129 [G/C] NM_138694,NM_170724 PKHD1,PKHD1 EXON Missense_G2782A,Missense_G2782A exm2128360 6 51656139 [A/C] NM_138694,NM_170724 PKHD1,PKHD1 EXON Missense_F2779V,Missense_F2779V exm-rs10498792 6 51666631 [T/C] NM_138694,NM_170724 PKHD1,PKHD1 Silent,Silent exm554773 6 51701255 [T/C] NM_138694,NM_170724 PKHD1,PKHD1 EXON Missense_G2707D,Missense_G2707D exm554781 6 51712738 [T/C] NM_138694,NM_170724 PKHD1,PKHD1 EXON Missense_G2648S,Missense_G2648S exm554782 6 51712759 [T/C] NM_138694,NM_170724 PKHD1,PKHD1 EXON Missense_T2641A,Missense_T2641A exm554790 6 51720792 [A/G] NM_138694,NM_170724 PKHD1,PKHD1 EXON Missense_R2604C,Missense_R2604C exm554794 6 51720858 [A/G] NM_138694,NM_170724 PKHD1,PKHD1 EXON Missense_P2582S,Missense_P2582S exm554795 6 51720866 [A/G] NM_138694,NM_170724 PKHD1,PKHD1 EXON Missense_A2579V,Missense_A2579V exm554801 6 51732719 [C/G] NM_138694,NM_170724 PKHD1,PKHD1 EXON Missense_V2559L,Missense_V2559L exm554818 6 51747934 [A/G] NM_138694,NM_170724 PKHD1,PKHD1 EXON Missense_T2436I,Missense_T2436I exm554819 6 51747943 [A/T] NM_138694,NM_170724 PKHD1,PKHD1 EXON Missense_D2433V,Missense_D2433V exm554821 6 51747977 [A/C] NM_138694,NM_170724 PKHD1,PKHD1 EXON Missense_C2422G,Missense_C2422G exm554829 6 51752011 [T/G] NM_138694,NM_170724 PKHD1,PKHD1 EXON Nonsense_Y2343X,Nonsense_Y2343X exm554830 6 51768399 [T/A] NM_138694,NM_170724 PKHD1,PKHD1 EXON Missense_I2331K,Missense_I2331K exm554831 6 51768403 [A/C] NM_138694,NM_170724 PKHD1,PKHD1 EXON Missense_V2330F,Missense_V2330F exm554838 6 51768795 [T/C] NM_138694,NM_170724 PKHD1,PKHD1 EXON Missense_G2285E,Missense_G2285E exm554843 6 51771039 [T/C] NM_138694,NM_170724 PKHD1,PKHD1 EXON Missense_N2261S,Missense_N2261S exm554855 6 51774198 [T/C] NM_138694,NM_170724 PKHD1,PKHD1 EXON Missense_V2189I,Missense_V2189I exm554860 6 51776597 [T/C] NM_138694,NM_170724 PKHD1,PKHD1 EXON Missense_G2164S,Missense_G2164S exm554865 6 51777251 [A/G] NM_138694,NM_170724 PKHD1,PKHD1 EXON Missense_T2082I,Missense_T2082I exm554868 6 51777285 [T/G] NM_138694,NM_170724 PKHD1,PKHD1 EXON Missense_N2071H,Missense_N2071H exm554871 6 51798908 [T/C] NM_138694,NM_170724 PKHD1,PKHD1 EXON Missense_G2041S,Missense_G2041S exm2128396 6 51799119 [T/C] NM_138694,NM_170724 PKHD1,PKHD1 EXON Synonymous_G1970G,Synonymous_G1970G exm554882 6 51824799 [T/C] NM_138694,NM_170724 PKHD1,PKHD1 EXON Missense_R1926Q,Missense_R1926Q exm2270323 6 51873092 [T/C] NM_138694,NM_170724 PKHD1,PKHD1 Silent,Silent exm554887 6 51875127 [A/G] NM_138694,NM_170724 PKHD1,PKHD1 EXON Missense_R1911C,Missense_R1911C exm554888 6 51875133 [A/G] NM_138694,NM_170724 PKHD1,PKHD1 EXON Missense_R1909W,Missense_R1909W exm554891 6 51875171 [A/G] NM_138694,NM_170724 PKHD1,PKHD1 EXON Missense_T1896M,Missense_T1896M exm554894 6 51875250 [A/C] NM_138694,NM_170724 PKHD1,PKHD1 EXON Missense_L1870V,Missense_L1870V exm554895 6 51882223 [A/G] NM_138694,NM_170724 PKHD1,PKHD1 EXON Missense_S1862L,Missense_S1862L exm554899 6 51882310 [A/G] NM_138694,NM_170724 PKHD1,PKHD1 EXON Missense_S1833L,Missense_S1833L exm554903 6 51882398 [A/G] NM_138694,NM_170724 PKHD1,PKHD1 EXON Missense_R1804C,Missense_R1804C exm554910 6 51889373 [A/G] NM_138694,NM_170724 PKHD1,PKHD1 EXON Synonymous_F1745F,Synonymous_F1745F exm554913 6 51889387 [T/C] NM_138694,NM_170724 PKHD1,PKHD1 EXON Missense_V1741M,Missense_V1741M exm554917 6 51889474 [T/C] NM_138694,NM_170724 PKHD1,PKHD1 EXON Missense_G1712R,Missense_G1712R exm554922 6 51889515 [T/C] NM_138694,NM_170724 PKHD1,PKHD1 EXON Missense_N1698S,Missense_N1698S exm554928 6 51889737 [T/C] NM_138694,NM_170724 PKHD1,PKHD1 EXON Missense_R1624Q,Missense_R1624Q exm554929 6 51889738 [A/G] NM_138694,NM_170724 PKHD1,PKHD1 EXON Missense_R1624W,Missense_R1624W exm554936 6 51889899 [T/C] NM_138694,NM_170724 PKHD1,PKHD1 EXON Missense_Y1570C,Missense_Y1570C exm554944 6 51890068 [C/G] NM_138694,NM_170724 PKHD1,PKHD1 EXON Missense_D1514H,Missense_D1514H exm554958 6 51890265 [T/C] NM_138694,NM_170724 PKHD1,PKHD1 EXON Missense_E1448G,Missense_E1448G exm554959 6 51890304 [C/G] NM_138694,NM_170724 PKHD1,PKHD1 EXON Missense_S1435T,Missense_S1435T exm554974 6 51890704 [T/C] NM_138694,NM_170724 PKHD1,PKHD1 EXON Missense_V1302I,Missense_V1302I exm554981 6 51890770 [A/G] NM_138694,NM_170724 PKHD1,PKHD1 EXON Missense_R1280C,Missense_R1280C exm554987 6 51890817 [C/G] NM_138694,NM_170724 PKHD1,PKHD1 EXON Missense_T1264S,Missense_T1264S exm554988 6 51890823 [A/G] NM_138694,NM_170724 PKHD1,PKHD1 EXON Missense_A1262V,Missense_A1262V exm554998 6 51892628 [T/C] NM_138694,NM_170724 PKHD1,PKHD1 EXON Synonymous_L1209L,Synonymous_L1209L exm555009 6 51893107 [T/C] NM_138694,NM_170724 PKHD1,PKHD1 EXON Missense_Y1136C,Missense_Y1136C exm555010 6 51893141 [T/G] NM_138694,NM_170724 PKHD1,PKHD1 EXON Missense_T1125P,Missense_T1125P exm555013 6 51893148 [A/G] NM_138694,NM_170724 PKHD1,PKHD1 EXON Synonymous_G1122G,Synonymous_G1122G exm2128429 6 51897941 [T/G] NM_138694,NM_170724 PKHD1,PKHD1 EXON Missense_N1084T,Missense_N1084T exm555017 6 51897951 [A/G] NM_138694,NM_170724 PKHD1,PKHD1 EXON Missense_R1081C,Missense_R1081C exm555032 6 51907929 [C/G] NM_138694,NM_170724 PKHD1,PKHD1 EXON Missense_G942A,Missense_G942A exm555040 6 51909843 [A/G] NM_138694,NM_170724 PKHD1,PKHD1 EXON Missense_T879M,Missense_T879M exm555045 6 51910905 [T/C] NM_138694,NM_170724 PKHD1,PKHD1 EXON Missense_N830S,Missense_N830S exm555049 6 51910950 [T/C] NM_138694,NM_170724 PKHD1,PKHD1 EXON Missense_Q815R,Missense_Q815R exm555050 6 51910980 [A/G] NM_138694,NM_170724 PKHD1,PKHD1 EXON Missense_P805L,Missense_P805L exm555055 6 51913349 [T/C] NM_138694,NM_170724 PKHD1,PKHD1 EXON Missense_R783Q,Missense_R783Q exm2128449 6 51913406 [A/G] NM_138694,NM_170724 PKHD1,PKHD1 EXON Missense_T764I,Missense_T764I exm555063 6 51914991 [A/G] NM_138694,NM_170724 PKHD1,PKHD1 EXON Missense_A748V,Missense_A748V exm555065 6 51915066 [A/C] NM_138694,NM_170724 PKHD1,PKHD1 EXON Missense_R723L,Missense_R723L exm555066 6 51915072 [A/G] NM_138694,NM_170724 PKHD1,PKHD1 EXON Missense_T721M,Missense_T721M exm555069 6 51917921 [T/C] NM_138694,NM_170724 PKHD1,PKHD1 EXON Missense_G698D,Missense_G698D exm555077 6 51918008 [T/C] NM_138694,NM_170724 PKHD1,PKHD1 EXON Missense_R669H,Missense_R669H exm555078 6 51918009 [A/G] NM_138694,NM_170724 PKHD1,PKHD1 EXON Missense_R669C,Missense_R669C exm555082 6 51918875 [A/G] NM_138694,NM_170724 PKHD1,PKHD1 EXON Missense_T642I,Missense_T642I exm555083 6 51918887 [A/G] NM_138694,NM_170724 PKHD1,PKHD1 EXON Missense_M638T,Missense_M638T exm555085 6 51918923 [T/C] NM_138694,NM_170724 PKHD1,PKHD1 EXON Missense_K626R,Missense_K626R exm555096 6 51920425 [A/G] NM_138694,NM_170724 PKHD1,PKHD1 EXON Missense_P599L,Missense_P599L exm555100 6 51920465 [A/C] NM_138694,NM_170724 PKHD1,PKHD1 EXON Missense_F586V,Missense_F586V exm555102 6 51920485 [A/G] NM_138694,NM_170724 PKHD1,PKHD1 EXON Missense_T579M,Missense_T579M exm555106 6 51921513 [T/C] NM_138694,NM_170724 PKHD1,PKHD1 EXON Missense_R559Q,Missense_R559Q exm2128470 6 51921514 [A/G] NM_138694,NM_170724 PKHD1,PKHD1 EXON Missense_R559W,Missense_R559W exm555107 6 51921546 [T/C] NM_138694,NM_170724 PKHD1,PKHD1 EXON Missense_K548R,Missense_K548R exm555110 6 51921714 [T/C] NM_138694,NM_170724 PKHD1,PKHD1 EXON Missense_I526V,Missense_I526V exm555115 6 51923147 [A/G] NM_138694,NM_170724 PKHD1,PKHD1 EXON Nonsense_R496X,Nonsense_R496X exm555118 6 51923171 [A/G] NM_138694,NM_170724 PKHD1,PKHD1 EXON Missense_R488W,Missense_R488W exm555121 6 51923291 [G/C] NM_138694,NM_170724 PKHD1,PKHD1 EXON Missense_G448R,Missense_G448R exm555122 6 51923326 [G/C] NM_138694,NM_170724 PKHD1,PKHD1 EXON Missense_T436S,Missense_T436S exm555131 6 51923378 [T/C] NM_138694,NM_170724 PKHD1,PKHD1 EXON Missense_V419I,Missense_V419I exm555144 6 51929794 [T/C] NM_138694,NM_170724 PKHD1,PKHD1 EXON Missense_R312Q,Missense_R312Q exm2257854 6 51929841 [A/T] NM_138694,NM_170724 PKHD1,PKHD1 EXON Synonymous_P296P,Synonymous_P296P exm555157 6 51935819 [T/C] NM_138694,NM_170724 PKHD1,PKHD1 EXON Missense_E218K,Missense_E218K exm555173 6 51944754 [T/C] NM_138694,NM_170724 PKHD1,PKHD1 EXON Missense_G112R,Missense_G112R exm555175 6 51944763 [T/C] NM_138694,NM_170724 PKHD1,PKHD1 EXON Missense_A109T,Missense_A109T exm555179 6 51947196 [T/C] NM_138694,NM_170724 PKHD1,PKHD1 EXON Missense_R92Q,Missense_R92Q exm2257855 6 51947237 [A/G] NM_138694,NM_170724 PKHD1,PKHD1 EXON Synonymous_D78D,Synonymous_D78D exm555189 6 51947313 [T/C] NM_138694,NM_170724 PKHD1,PKHD1 EXON Missense_N53S,Missense_N53S exm555192 6 51947977 [A/G] NM_138694,NM_170724 PKHD1,PKHD1 EXON Synonymous_D43D,Synonymous_D43D exm555193 6 51947999 [A/G] NM_138694,NM_170724 PKHD1,PKHD1 EXON Missense_T36M,Missense_T36M exm-rs9357726 6 52025693 [A/G] exm555215 6 52052459 [A/G] NM_002190 IL17A EXON Missense_R29Q exm555220 6 52052534 [A/G] NM_002190 IL17A EXON Missense_R54Q exm555223 6 52052585 [T/C] NM_002190 IL17A EXON Missense_T71I exm555224 6 52053893 [A/G] NM_002190 IL17A EXON Missense_E91K exm2128513 6 52053905 [T/C] NM_002190 IL17A EXON Missense_R95C exm555228 6 52054023 [A/G] NM_002190 IL17A EXON Missense_R134Q exm555239 6 52101758 [T/C] NM_052872 IL17F EXON Missense_V155I exm555242 6 52101833 [T/C] NM_052872 IL17F EXON Missense_V130I exm555251 6 52101947 [A/G] NM_052872 IL17F EXON Missense_R92W exm2275287 6 52103527 [A/C] NM_052872 IL17F Silent exm555258 6 52103567 [T/C] NM_052872 IL17F EXON Missense_R72H exm555264 6 52103729 [A/G] NM_052872 IL17F EXON Missense_S18L exm2244266 6 52109217 [T/C] NM_052872 IL17F EXON Missense_K4R exm555272 6 52129484 [T/C] NM_002388,NM_001270472 MCM3,MCM3 EXON Missense_E822K,Missense_E787K exm555273 6 52129493 [A/G] NM_002388,NM_001270472 MCM3,MCM3 EXON Missense_R819W,Missense_R784W exm555274 6 52129514 [A/G] NM_002388,NM_001270472 MCM3,MCM3 EXON Missense_R812C,Missense_R777C exm555282 6 52130875 [C/G] NM_002388,NM_001270472 MCM3,MCM3 EXON Synonymous_S787S,Synonymous_S752S exm2257857 6 52130875 [C/G] NM_002388,NM_001270472 MCM3,MCM3 EXON Synonymous_S787S,Synonymous_S752S exm555298 6 52133889 [T/C] NM_002388,NM_001270472 MCM3,MCM3 EXON Missense_K700E,Missense_K665E exm2128536 6 52137126 [A/C] NM_002388,NM_001270472 MCM3,MCM3 EXON Missense_Q645H,Missense_Q610H exm555304 6 52137158 [T/G] NM_002388,NM_001270472 MCM3,MCM3 EXON Missense_I635L,Missense_I600L exm555314 6 52138549 [T/C] NM_002388,NM_001270472 MCM3,MCM3 EXON Missense_D559N,Missense_D524N exm555318 6 52138605 [T/C] NM_002388,NM_001270472 MCM3,MCM3 EXON Missense_R540Q,Missense_R505Q exm555319 6 52138606 [A/G] NM_002388,NM_001270472 MCM3,MCM3 EXON Missense_R540W,Missense_R505W exm555330 6 52141182 [T/C] NM_002388,NM_001270472 MCM3,MCM3 EXON Missense_T465A,Missense_T430A exm555333 6 52141266 [A/G] NM_002388,NM_001270472 MCM3,MCM3 EXON Missense_R437C,Missense_R402C exm555349 6 52142467 [C/G] NM_002388,NM_001270472 MCM3,MCM3 EXON Missense_A345G,Missense_A310G exm555350 6 52143560 [A/G] NM_002388,NM_001270472 MCM3,MCM3 EXON Missense_F332L,Missense_F297L exm2128555 6 52144204 [T/C] NM_002388,NM_001270472 MCM3,MCM3 EXON Missense_R287H,Missense_R252H exm555360 6 52144274 [T/C] NM_002388,NM_001270472 MCM3,MCM3 EXON Missense_V264I,Missense_V229I exm555379 6 52147553 [T/C] NM_002388,NM_001270472 MCM3,MCM3 EXON Missense_V145I,Missense_V110I exm555380 6 52147555 [T/C] NM_002388,NM_001270472 MCM3,MCM3 EXON Missense_Y144C,Missense_Y109C exm555393 6 52149448 [A/C] NM_002388,NM_001270472 MCM3,MCM3 EXON Missense_D54Y,Synonymous_T56T exm555394 6 52149460 [T/C] NM_002388,NM_001270472 MCM3,MCM3 EXON Missense_V50M,Synonymous_P52P exm555408 6 52268099 [A/C] NM_133367 PAQR8 EXON Missense_L30I exm555412 6 52268176 [A/C] NM_133367 PAQR8 EXON Nonsense_Y55X exm555418 6 52268330 [A/G] NM_133367 PAQR8 EXON Missense_T107A exm555431 6 52268531 [T/C] NM_133367 PAQR8 EXON Missense_R174W exm555436 6 52268717 [T/C] NM_133367 PAQR8 EXON Missense_H236Y exm2244270 6 52272574 [T/C] NM_133367 PAQR8 EXON Silent exm555450 6 52285209 [A/G] NM_018100,NR_033327 EFHC1,EFHC1 EXON Missense_M1V,Silent exm555454 6 52285262 [T/G] NM_018100,NR_033327 EFHC1,EFHC1 EXON Missense_K18N,Silent exm555468 6 52288909 [A/C] NM_018100,NR_033327,NM_001172420 EFHC1,EFHC1,EFHC1 EXON Missense_P77T,Silent,Missense_P58T exm555470 6 52288943 [T/C] NM_018100,NR_033327,NM_001172420 EFHC1,EFHC1,EFHC1 EXON Missense_A88V,Silent,Missense_A69V exm555478 6 52303300 [T/C] NM_018100,NR_033327,NM_001172420 EFHC1,EFHC1,EFHC1 EXON Missense_H162Y,Silent,Missense_H143Y exm555481 6 52303361 [A/G] NM_018100,NR_033327,NM_001172420 EFHC1,EFHC1,EFHC1 EXON Missense_R182H,Silent,Missense_R163H exm555483 6 52303375 [A/G] NM_018100,NR_033327,NM_001172420 EFHC1,EFHC1,EFHC1 EXON Missense_D187N,Silent,Missense_D168N exm555487 6 52317541 [T/A] NM_018100,NR_033327,NM_001172420 EFHC1,EFHC1,EFHC1 EXON Missense_D210V,Silent,Missense_D191V exm555488 6 52317573 [T/C] NM_018100,NR_033327,NM_001172420 EFHC1,EFHC1,EFHC1 EXON Missense_R221C,Silent,Missense_R202C exm555489 6 52317574 [A/G] NM_018100,NR_033327,NM_001172420 EFHC1,EFHC1,EFHC1 EXON Missense_R221H,Silent,Missense_R202H exm555490 6 52317597 [T/C] NM_018100,NR_033327,NM_001172420 EFHC1,EFHC1,EFHC1 EXON Missense_F229L,Silent,Missense_F210L exm555495 6 52318948 [A/G] NM_018100,NR_033327,NM_001172420 EFHC1,EFHC1,EFHC1 EXON Missense_R260Q,Silent,Missense_R241Q exm555502 6 52319050 [A/G] NM_018100,NR_033327,NM_001172420 EFHC1,EFHC1,EFHC1 EXON Missense_R294H,Silent,Missense_R275H exm555503 6 52319056 [A/G] NM_018100,NR_033327,NM_001172420 EFHC1,EFHC1,EFHC1 EXON Missense_R296H,Silent,Missense_R277H exm2275891 6 52319065 [A/G] NM_018100,NR_033327,NM_001172420 EFHC1,EFHC1,EFHC1 EXON Missense_K299R,Silent,Missense_K280R exm2270324 6 52319251 [T/C] NM_018100,NR_033327,NM_001172420 EFHC1,EFHC1,EFHC1 Silent,Silent,Silent exm555514 6 52329830 [T/C] NM_018100,NR_033327,NM_001172420 EFHC1,EFHC1,EFHC1 EXON Nonsense_R352X,Silent,Nonsense_R333X exm555516 6 52329845 [A/G] NM_018100,NR_033327,NM_001172420 EFHC1,EFHC1,EFHC1 EXON Missense_E357K,Silent,Missense_E338K exm555531 6 52343899 [T/C] NM_018100,NR_033327,NM_001172420 EFHC1,EFHC1,EFHC1 EXON Missense_M448T,Silent,Missense_M429T exm555536 6 52344557 [T/C] NM_018100,NR_033327,NM_001172420 EFHC1,EFHC1,EFHC1 EXON Nonsense_R538X,Silent,Nonsense_R519X exm555541 6 52355117 [A/G] NM_018100,NR_033327,NM_001172420 EFHC1,EFHC1,EFHC1 EXON Missense_N607S,Silent,Missense_N588S exm555544 6 52357071 [A/C] NM_018100,NR_033327,NM_001172420 EFHC1,EFHC1,EFHC1 EXON Missense_I619L,Silent,Missense_I600L exm555545 6 52357102 [T/C] NM_018100,NR_033327,NM_001172420 EFHC1,EFHC1,EFHC1 EXON Missense_I629T,Silent,Missense_I610T exm555557 6 52369427 [A/G] NM_012288 TRAM2 EXON Missense_T334I exm555571 6 52370909 [C/G] NM_012288 TRAM2 EXON Missense_L218V exm555592 6 52381467 [T/C] NM_012288 TRAM2 EXON Missense_T85A exm-rs2239619 6 52453220 [A/C] exm-rs6901147 6 52454299 [A/G] exm555605 6 52541964 [T/C] NM_014051 TMEM14A EXON Missense_R22W exm555607 6 52546620 [T/C] NM_014051 TMEM14A EXON Missense_P27L exm555608 6 52546649 [T/C] NM_014051 TMEM14A EXON Missense_C37R exm555610 6 52546658 [A/G] NM_014051 TMEM14A EXON Missense_G40S exm555612 6 52546673 [T/C] NM_014051 TMEM14A EXON Missense_R45C exm555646 6 52617692 [T/G] NM_000846 GSTA2 EXON Missense_Q125P exm555647 6 52617731 [G/C] NM_000846 GSTA2 EXON Missense_S112T exm555648 6 52617738 [A/G] NM_000846 GSTA2 EXON Missense_P110S exm555668 6 52622687 [T/C] NM_000846 GSTA2 EXON Missense_R20Q exm555674 6 52622724 [T/G] NM_000846 GSTA2 EXON Missense_H8N exm555738 6 52696737 [A/G] NM_153699 GSTA5 EXON Missense_T193M exm555749 6 52697739 [T/C] NM_153699 GSTA5 EXON Nonsense_W155X exm555761 6 52699066 [A/G] NM_153699 GSTA5 EXON Missense_T96I exm555771 6 52701143 [T/C] NM_153699 GSTA5 EXON Missense_V55I exm2257860 6 52701162 [T/C] NM_153699 GSTA5 EXON Synonymous_G48G exm555777 6 52702355 [T/C] NM_153699 GSTA5 Silent exm2244278 6 52761651 [T/C] NM_000847 GSTA3 EXON Missense_A208T exm555796 6 52761695 [A/G] NM_000847 GSTA3 EXON Missense_T193M exm555802 6 52762717 [T/C] NM_000847 GSTA3 EXON Missense_N151S exm555803 6 52762730 [A/C] NM_000847 GSTA3 EXON Missense_Y147D exm555808 6 52764793 [A/T] NM_000847 GSTA3 EXON Missense_D118V exm2266194 6 52765760 [A/G] NM_000847 GSTA3 Silent exm2274164 6 52768506 [T/C] NM_000847 GSTA3 EXON Missense_G36E exm555829 6 52770596 [A/G] NM_000847 GSTA3 EXON Missense_R13W exm2270475 6 52801687 [T/C] exm555839 6 52847431 [T/C] NM_001512 GSTA4 EXON Missense_T163A exm555847 6 52849377 [A/G] NM_001512 GSTA4 EXON Missense_L100P exm555849 6 52850270 [T/C] NM_001512 GSTA4 EXON Missense_K84R exm555875 6 52871155 [T/C] NM_016513,NM_014920 ICK,ICK EXON Missense_M568V,Missense_M568V exm555882 6 52874333 [A/G] NM_016513,NM_014920 ICK,ICK EXON Missense_P509S,Missense_P509S exm555894 6 52878461 [A/G] NM_016513,NM_014920 ICK,ICK EXON Missense_S384L,Missense_S384L exm555900 6 52878605 [T/C] NM_016513,NM_014920 ICK,ICK EXON Missense_R336Q,Missense_R336Q exm555904 6 52878654 [T/C] NM_016513,NM_014920 ICK,ICK EXON Missense_V320I,Missense_V320I exm555909 6 52880927 [T/C] NM_016513,NM_014920 ICK,ICK EXON Missense_R262K,Missense_R262K exm555912 6 52880992 [A/C] NM_016513,NM_014920 ICK,ICK EXON Missense_Q240H,Missense_Q240H exm555947 6 52938378 [T/C] NM_033481,NM_033480,NM_012347 FBXO9,FBXO9,FBXO9 EXON Missense_S30P,Missense_S64P,Missense_S74P exm555997 6 52993209 [T/C] NM_003643 GCM1 EXON Missense_H369R exm556000 6 52993337 [T/G] NM_003643 GCM1 EXON Missense_S326R exm556015 6 52993609 [A/C] NM_003643 GCM1 EXON Missense_F236V exm556019 6 52993730 [T/G] NM_003643 GCM1 EXON Missense_E195D exm556022 6 52995618 [T/C] NM_003643 GCM1 EXON Missense_G185R exm556030 6 52996895 [A/G] NM_003643 GCM1 EXON Synonymous_D117D exm2257861 6 52996895 [A/G] NM_003643 GCM1 EXON Synonymous_D117D exm556037 6 52998936 [T/C] NM_003643 GCM1 EXON Missense_A88T exm-rs735860 6 53123118 [T/C] exm556054 6 53134043 [T/C] NM_021814,NM_001242828,NM_001242830 ELOVL5,ELOVL5,ELOVL5 EXON Missense_R261Q,Missense_R288Q,Synonymous_P219P exm556055 6 53135449 [T/C] NM_021814,NM_001242828,NM_001242830 ELOVL5,ELOVL5,ELOVL5 EXON Missense_Y233C,Missense_Y260C,Synonymous_V191V exm2244283 6 53135475 [T/C] NM_021814,NM_001242828,NM_001242830 ELOVL5,ELOVL5,ELOVL5 EXON Synonymous_P224P,Synonymous_P251P,Missense_V183M exm556057 6 53135490 [A/G] NM_021814,NM_001242828,NM_001242830 ELOVL5,ELOVL5,ELOVL5 EXON Synonymous_C219C,Synonymous_C246C,Missense_R178W exm556078 6 53156697 [T/C] NM_021814,NM_001242828,NM_001242830 ELOVL5,ELOVL5,ELOVL5 EXON Missense_I41M,Missense_I41M,Missense_I41M exm-rs9367532 6 53310839 [A/G] exm2128813 6 53363725 [A/G] NM_001197115,NM_001498 GCLC,GCLC EXON Synonymous_I543I,Synonymous_I581I exm2257863 6 53365063 [A/G] NM_001197115,NM_001498 GCLC,GCLC EXON Synonymous_D483D,Synonymous_D521D exm556119 6 53365095 [T/C] NM_001197115,NM_001498 GCLC,GCLC EXON Missense_A473T,Missense_A511T exm556123 6 53365106 [A/C] NM_001197115,NM_001498 GCLC,GCLC EXON Missense_S469I,Missense_S507I exm556125 6 53365127 [T/C] NM_001197115,NM_001498 GCLC,GCLC EXON Missense_G462D,Missense_G500D exm2128820 6 53365140 [A/C] NM_001197115,NM_001498 GCLC,GCLC EXON Missense_A458S,Missense_A496S exm556126 6 53365142 [T/C] NM_001197115,NM_001498 GCLC,GCLC EXON Missense_N457S,Missense_N495S exm556134 6 53370201 [A/G] NM_001197115,NM_001498 GCLC,GCLC EXON Missense_P424S,Missense_P462S exm556141 6 53372323 [T/C] NM_001197115,NM_001498 GCLC,GCLC EXON Missense_D309N,Missense_D347N exm556157 6 53379243 [T/C] NM_001197115,NM_001498 GCLC,GCLC EXON Missense_V167I,Missense_V205I exm2128845 6 53387280 [A/G] NM_001197115,NM_001498 GCLC,GCLC EXON Missense_R66W,Missense_R66W exm2257864 6 53447470 [T/C] exm556181 6 53516464 [A/G] NM_001003760 KLHL31 EXON Missense_S613P exm2257865 6 53516516 [A/C] NM_001003760 KLHL31 EXON Synonymous_T595T exm556185 6 53516572 [T/C] NM_001003760 KLHL31 EXON Missense_E577K exm556189 6 53516760 [C/G] NM_001003760 KLHL31 EXON Missense_R514T exm556190 6 53516779 [T/C] NM_001003760 KLHL31 EXON Missense_A508T exm556195 6 53516869 [A/C] NM_001003760 KLHL31 EXON Missense_A478S exm556208 6 53517073 [T/C] NM_001003760 KLHL31 EXON Missense_T410A exm556209 6 53517103 [T/C] NM_001003760 KLHL31 EXON Missense_I400V exm556211 6 53517128 [T/C] NM_001003760 KLHL31 EXON Synonymous_R391R exm556224 6 53519248 [T/C] NM_001003760 KLHL31 EXON Missense_V275I exm556225 6 53519301 [T/C] NM_001003760 KLHL31 EXON Missense_N257S exm556230 6 53519358 [A/G] NM_001003760 KLHL31 EXON Missense_M238T exm556235 6 53519476 [A/C] NM_001003760 KLHL31 EXON Missense_F199V exm556238 6 53519524 [T/A] NM_001003760 KLHL31 EXON Missense_S183T exm556241 6 53519575 [C/G] NM_001003760 KLHL31 EXON Missense_E166Q exm556242 6 53519605 [T/C] NM_001003760 KLHL31 EXON Missense_V156I exm556245 6 53519707 [A/C] NM_001003760 KLHL31 EXON Missense_A122S exm556248 6 53519740 [T/C] NM_001003760 KLHL31 EXON Missense_V111M exm2257866 6 53519771 [A/G] NM_001003760 KLHL31 EXON Synonymous_N100N exm556251 6 53519771 [A/G] NM_001003760 KLHL31 EXON Synonymous_N100N exm556252 6 53519772 [T/C] NM_001003760 KLHL31 EXON Missense_N100S exm556261 6 53520039 [T/C] NM_001003760 KLHL31 EXON Missense_N11S exm556265 6 53660101 [T/G] NM_018214 LRRC1 EXON Missense_S16I exm2128902 6 53761683 [A/G] NM_018214 LRRC1 EXON Missense_Y187C exm556287 6 53762092 [A/G] NM_018214 LRRC1 EXON Missense_I193V exm556299 6 53764672 [T/C] NM_018214 LRRC1 EXON Missense_T257M exm556301 6 53764688 [T/G] NM_018214 LRRC1 EXON Missense_I262M exm556305 6 53767447 [A/G] NM_018214 LRRC1 EXON Missense_I270V exm2128915 6 53767477 [G/C] NM_018214 LRRC1 EXON Missense_Q280E exm556308 6 53778661 [T/G] NM_018214 LRRC1 EXON Missense_C334G exm556320 6 53785444 [G/C] NM_018214 LRRC1 EXON Missense_A434G exm2266195 6 53882366 [A/G] exm556341 6 53883843 [A/G] NM_138569 MLIP EXON Missense_R6H exm556343 6 53883888 [T/C] NM_138569 MLIP EXON Missense_T21M exm556356 6 53989347 [T/C] NM_138569 MLIP EXON Missense_S99L exm556361 6 53989446 [T/C] NM_138569 MLIP EXON Missense_I132T exm556368 6 53989506 [T/G] NM_138569 MLIP EXON Missense_G152V exm556371 6 53989526 [A/G] NM_138569 MLIP EXON Missense_V159I exm556383 6 54013873 [A/G] NM_138569 MLIP EXON Missense_S211N exm556390 6 54025205 [T/A] NM_138569 MLIP EXON Missense_D242V exm556398 6 54025539 [A/G] NM_138569 MLIP EXON Missense_H279R exm556399 6 54025545 [C/G] NM_138569 MLIP EXON Missense_S281C exm556408 6 54054686 [A/T] NM_138569 MLIP EXON Missense_S320T exm556409 6 54054699 [C/G] NM_138569 MLIP EXON Missense_S324C exm556413 6 54095524 [T/C] NM_138569 MLIP EXON Missense_P376S exm556416 6 54095543 [T/C] NM_138569 MLIP EXON Missense_L382P exm556440 6 54173355 [A/G] NM_014464 TINAG EXON Missense_T3A exm556444 6 54173413 [A/G] NM_014464 TINAG EXON Missense_Q22R exm556445 6 54173421 [T/G] NM_014464 TINAG EXON Missense_S25A exm556448 6 54173584 [T/C] NM_014464 TINAG EXON Missense_A79V exm556449 6 54173631 [T/C] NM_014464 TINAG EXON Missense_C95R exm556460 6 54186137 [A/C] NM_014464 TINAG EXON Nonsense_C154X exm556461 6 54186145 [A/G] NM_014464 TINAG EXON Missense_R157H exm2270476 6 54186562 [T/C] NM_014464 TINAG Silent exm556466 6 54191661 [T/C] NM_014464 TINAG EXON Missense_R191C exm556468 6 54191686 [T/C] NM_014464 TINAG EXON Missense_P199L exm556484 6 54212287 [A/G] NM_014464 TINAG EXON Missense_R291G exm556487 6 54214585 [A/G] NM_014464 TINAG EXON Missense_S324N exm556491 6 54214618 [T/C] NM_014464 TINAG EXON Missense_T335M exm556493 6 54214623 [G/C] NM_014464 TINAG EXON Missense_P337A exm556507 6 54219326 [A/G] NM_014464 TINAG EXON Missense_R381H exm556509 6 54219368 [T/C] NM_014464 TINAG EXON Missense_V395A exm556513 6 54219405 [C/G] NM_014464 TINAG EXON Missense_K407N exm556518 6 54219421 [A/G] NM_014464 TINAG EXON Missense_V413I exm556527 6 54254589 [A/C] NM_014464 TINAG EXON Missense_I433L exm556531 6 54254685 [A/G] NM_014464 TINAG EXON Missense_A465T exm-rs16885294 6 54265396 [T/C] exm2270327 6 54671090 [T/G] exm556537 6 54735051 [A/T] NM_001010872 FAM83B EXON Missense_T3S exm556551 6 54791314 [T/G] NM_001010872 FAM83B EXON Missense_C197F exm556555 6 54792319 [A/G] NM_001010872 FAM83B EXON Missense_R208Q exm2257871 6 54792359 [A/G] NM_001010872 FAM83B EXON Synonymous_A221A exm556561 6 54804649 [A/G] NM_001010872 FAM83B EXON Missense_V294M exm556562 6 54804653 [A/C] NM_001010872 FAM83B EXON Missense_K295T exm556578 6 54804998 [A/G] NM_001010872 FAM83B EXON Missense_N410S exm556580 6 54805074 [C/G] NM_001010872 FAM83B EXON Missense_S435R exm556584 6 54805160 [A/G] NM_001010872 FAM83B EXON Missense_R464Q exm556594 6 54805279 [T/C] NM_001010872 FAM83B EXON Missense_H504Y exm556612 6 54805688 [A/C] NM_001010872 FAM83B EXON Missense_K640T exm556614 6 54805710 [T/G] NM_001010872 FAM83B EXON Missense_Q647H exm556622 6 54805921 [G/C] NM_001010872 FAM83B EXON Missense_E718Q exm556625 6 54805966 [A/G] NM_001010872 FAM83B EXON Missense_T733A exm556635 6 54806294 [A/T] NM_001010872 FAM83B EXON Missense_I842N exm556639 6 54806365 [A/G] NM_001010872 FAM83B EXON Missense_R866G exm556646 6 54806489 [A/C] NM_001010872 FAM83B EXON Missense_T907N exm2129024 6 54806543 [A/G] NM_001010872 FAM83B EXON Missense_R925Q exm556660 6 54806692 [T/G] NM_001010872 FAM83B EXON Missense_S975A exm556668 6 55039416 [A/C] NM_001526 HCRTR2 EXON Missense_P11T exm556671 6 55039564 [G/C] NM_001526 HCRTR2 EXON Missense_G60A exm556686 6 55120058 [T/C] NM_001526 HCRTR2 EXON Missense_I176T exm556687 6 55120108 [A/T] NM_001526 HCRTR2 EXON Missense_C193S exm556698 6 55142292 [A/G] NM_001526 HCRTR2 EXON Missense_I293V exm556701 6 55142337 [A/G] NM_001526 HCRTR2 EXON Missense_I308V exm2129043 6 55142358 [A/G] NM_001526 HCRTR2 EXON Missense_I315V exm556706 6 55142379 [A/G] NM_001526 HCRTR2 EXON Missense_I322V exm556719 6 55147138 [T/G] NM_001526 HCRTR2 EXON Missense_L407F exm556720 6 55147209 [A/C] NM_001526 HCRTR2 EXON Missense_T431K exm-rs9367630 6 55148103 [A/G] exm2270477 6 55194896 [T/C] NM_207410 GFRAL Silent exm556727 6 55196575 [C/G] NM_207410 GFRAL EXON Missense_E29Q exm556728 6 55196587 [T/C] NM_207410 GFRAL EXON Missense_R33C exm2129054 6 55198604 [T/A] NM_207410 GFRAL EXON Missense_M60L exm556736 6 55198727 [T/G] NM_207410 GFRAL EXON Missense_C101G exm556737 6 55214895 [A/G] NM_207410 GFRAL EXON Missense_V108M exm556738 6 55214932 [T/G] NM_207410 GFRAL EXON Missense_R120L exm556744 6 55216194 [T/C] NM_207410 GFRAL EXON Missense_R172W exm556746 6 55216231 [A/G] NM_207410 GFRAL EXON Missense_Q184R exm556754 6 55216332 [G/C] NM_207410 GFRAL EXON Missense_P218A exm556756 6 55216344 [A/G] NM_207410 GFRAL EXON Missense_S222G exm556758 6 55216354 [A/G] NM_207410 GFRAL EXON Missense_R225H exm556761 6 55223750 [A/G] NM_207410 GFRAL EXON Missense_E256K exm556764 6 55223868 [A/C] NM_207410 GFRAL EXON Missense_T295N exm556772 6 55264207 [A/T] NM_207410 GFRAL EXON Nonsense_C363X exm556773 6 55264227 [T/C] NM_207410 GFRAL EXON Missense_M370T exm556775 6 55266595 [A/G] NM_207410 GFRAL EXON Missense_R377G exm556777 6 55266625 [T/C] NM_207410 GFRAL EXON Missense_S387P exm556778 6 55266629 [T/C] NM_207410 GFRAL EXON Missense_I388T exm2244303 6 55304273 [T/C] NM_001042406,NM_019036 HMGCLL1,HMGCLL1 EXON Missense_E294K,Missense_E324K exm556792 6 55304355 [T/C] NM_001042406,NM_019036 HMGCLL1,HMGCLL1 EXON Missense_M266I,Missense_M296I exm556794 6 55360227 [A/G] NM_001042406,NM_019036 HMGCLL1,HMGCLL1 EXON Missense_T262M,Missense_T292M exm556816 6 55381349 [T/C] NM_001042406,NM_019036 HMGCLL1,HMGCLL1 EXON Missense_R117H,Missense_R147H exm556817 6 55381350 [A/G] NM_001042406,NM_019036 HMGCLL1,HMGCLL1 EXON Missense_R117C,Missense_R147C exm556818 6 55381369 [A/C] NM_001042406,NM_019036 HMGCLL1,HMGCLL1 EXON Missense_I110M,Missense_I140M exm556821 6 55406577 [A/C] NM_001042406,NM_019036 HMGCLL1,HMGCLL1 EXON Missense_L83V,Missense_L113V exm556826 6 55406881 [T/A] NM_001042406,NM_019036 HMGCLL1,HMGCLL1 EXON Missense_R56W,Missense_R86W exm556854 6 55625290 [T/C] NM_021073 BMP5 EXON Missense_E357K exm556860 6 55638918 [T/C] NM_021073 BMP5 EXON Missense_N319S exm556873 6 55684511 [A/G] NM_021073 BMP5 EXON Missense_F209L exm556883 6 55739284 [A/T] NM_021073 BMP5 EXON Missense_I127K exm556888 6 55739302 [T/C] NM_021073 BMP5 EXON Missense_N121S exm556892 6 55739443 [A/G] NM_021073 BMP5 EXON Missense_A74V exm556903 6 55739660 [A/G] NM_021073 BMP5 EXON Missense_H2Y exm2262146 6 55825851 [T/C] exm556919 6 55923968 [G/C] NM_030820 COL21A1 EXON Missense_P894R exm556922 6 55924005 [T/C] NM_030820 COL21A1 EXON Missense_G882R exm556928 6 55924962 [A/G] NM_030820 COL21A1 EXON Missense_L821P exm556929 6 55925008 [A/G] NM_030820 COL21A1 EXON Missense_P806S exm556933 6 55925588 [T/G] NM_030820 COL21A1 EXON Missense_R786S exm556934 6 55925689 [A/G] NM_030820 COL21A1 EXON Synonymous_P784P exm556937 6 55925762 [A/C] NM_030820 COL21A1 EXON Missense_M760R exm556938 6 55925783 [A/T] NM_030820 COL21A1 EXON Missense_E753V exm556942 6 55926464 [C/G] NM_030820 COL21A1 EXON Missense_H730D exm556953 6 55935556 [A/G] NM_030820 COL21A1 EXON Missense_A669V exm556954 6 55935568 [A/C] NM_030820 COL21A1 EXON Missense_G665V exm556957 6 55939059 [T/G] NM_030820 COL21A1 EXON Missense_P646T exm556964 6 55966311 [A/G] NM_030820 COL21A1 EXON Missense_S591P exm556966 6 55988870 [G/C] NM_030820 COL21A1 EXON Missense_P583R exm556967 6 55988871 [T/G] NM_030820 COL21A1 EXON Missense_P583T exm556972 6 55989091 [T/C] NM_030820 COL21A1 Silent exm556983 6 56006611 [T/C] NM_030820 COL21A1 EXON Missense_K505R exm556985 6 56006732 [A/G] NM_030820 COL21A1 EXON Missense_I495T exm556989 6 56029264 [A/G] NM_030820 COL21A1 EXON Missense_P443L exm556990 6 56029268 [T/C] NM_030820 COL21A1 EXON Missense_A442T exm556999 6 56033094 [A/G] NM_030820 COL21A1 EXON Missense_T343M exm557001 6 56035494 [T/C] NM_030820 COL21A1 EXON Missense_V327I exm557009 6 56035643 [A/G] NM_030820 COL21A1 EXON Missense_L277P exm2244307 6 56035780 [A/C] NM_030820 COL21A1 EXON Missense_V263F exm557012 6 56035853 [T/A] NM_030820 COL21A1 EXON Missense_D238E exm557014 6 56035881 [T/C] NM_030820 COL21A1 EXON Missense_R229K exm557016 6 56035909 [A/G] NM_030820 COL21A1 EXON Nonsense_R220X exm557033 6 56044835 [A/C] NM_030820 COL21A1 EXON Missense_V61F exm557038 6 56047400 [A/G] NM_030820 COL21A1 EXON Missense_T6I exm2270329 6 56102780 [T/C] NM_030820 COL21A1 Silent exm-rs10498810 6 56126903 [A/C] exm2257876 6 56274973 [T/C] NR_046940 RNU6-71 Silent exm557042 6 56323828 [T/C] NR_046940,NM_015548 RNU6-71,DST EXON Silent,Missense_K5164R exm557057 6 56327849 [T/C] NR_046940,NM_015548 RNU6-71,DST EXON Silent,Missense_A5042T exm2257877 6 56327856 [T/C] NR_046940,NM_015548 RNU6-71,DST EXON Silent,Synonymous_V5039V exm2244308 6 56328367 [A/G] NR_046940,NM_015548 RNU6-71,DST EXON Silent,Missense_P5005L exm557065 6 56328406 [A/G] NR_046940,NM_015548 RNU6-71,DST EXON Silent,Missense_A4992V exm557066 6 56328416 [T/C] NR_046940,NM_015548 RNU6-71,DST EXON Silent,Missense_S4989G exm557089 6 56342280 [T/C] NR_046940,NM_015548 RNU6-71,DST EXON Silent,Missense_M4557V exm557091 6 56346870 [T/C] NR_046940,NM_015548 RNU6-71,DST EXON Silent,Missense_R4547Q exm557092 6 56346876 [C/G] NR_046940,NM_015548 RNU6-71,DST EXON Silent,Missense_A4545G exm557097 6 56347519 [T/C] NR_046940,NM_015548 RNU6-71,DST EXON Silent,Missense_I4499V exm557105 6 56351972 [C/G] NR_046940,NM_015548 RNU6-71,DST EXON Silent,Missense_L4370V exm557109 6 56354371 [T/C] NR_046940,NM_015548 RNU6-71,DST EXON Silent,Missense_E4309K exm557119 6 56357740 [T/C] NR_046940,NM_015548 RNU6-71,DST EXON Silent,Missense_E4225K exm557126 6 56357844 [T/C] NR_046940,NM_015548 RNU6-71,DST EXON Silent,Missense_N4190S exm557133 6 56358978 [T/C] NR_046940,NM_015548 RNU6-71,DST EXON Silent,Missense_E4119K exm557135 6 56362247 [T/C] NR_046940,NM_015548 RNU6-71,DST EXON Silent,Missense_R4095H exm557151 6 56366402 [G/C] NR_046940,NM_015548 RNU6-71,DST EXON Silent,Missense_E3929D exm557152 6 56366410 [T/C] NR_046940,NM_015548 RNU6-71,DST EXON Silent,Missense_T3927A exm557161 6 56373536 [T/C] NR_046940,NM_015548 RNU6-71,DST EXON Silent,Missense_D3721N exm2244313 6 56376021 [T/C] NR_046940,NM_015548 RNU6-71,DST EXON Silent,Missense_D3629N exm557178 6 56380391 [A/G] NR_046940,NM_015548 RNU6-71,DST EXON Silent,Missense_R3522W exm557181 6 56380427 [T/A] NR_046940,NM_015548 RNU6-71,DST EXON Silent,Missense_C3510S exm557191 6 56391252 [T/C] NR_046940,NM_015548 RNU6-71,DST EXON Silent,Missense_M3389I exm557215 6 56397220 [A/G] NR_046940,NM_015548 RNU6-71,DST EXON Silent,Missense_A3054V exm557218 6 56397283 [T/C] NR_046940,NM_015548 RNU6-71,DST EXON Silent,Missense_R3033Q exm557226 6 56401605 [T/C] NR_046940,NM_015548 RNU6-71,DST EXON Silent,Missense_N2958S exm557228 6 56401738 [A/C] NR_046940,NM_015548 RNU6-71,DST EXON Silent,Missense_V2914L exm557234 6 56417095 [T/A] NR_046940,NM_015548 RNU6-71,DST EXON Silent,Missense_S2876C exm557239 6 56417248 [T/C] NR_046940,NM_015548 RNU6-71,DST EXON Silent,Missense_M2825V exm557241 6 56417282 [T/C] NR_046940,NM_015548 RNU6-71,DST EXON Silent,Missense_M2813I exm557243 6 56417415 [T/C] NR_046940,NM_015548 RNU6-71,DST EXON Silent,Missense_R2769Q exm557247 6 56417545 [T/C] NR_046940,NM_015548 RNU6-71,DST EXON Silent,Missense_T2726A exm557252 6 56417688 [A/G] NR_046940,NM_015548 RNU6-71,DST EXON Silent,Missense_S2678L exm557262 6 56418006 [T/C] NR_046940,NM_015548 RNU6-71,DST EXON Silent,Missense_C2572Y exm557274 6 56418281 [T/A] NR_046940,NM_015548 RNU6-71,DST EXON Silent,Missense_F2480L exm557275 6 56418319 [T/C] NR_046940,NM_015548 RNU6-71,DST EXON Silent,Missense_D2468N exm557276 6 56418399 [T/C] NR_046940,NM_015548 RNU6-71,DST EXON Silent,Missense_Q2441R exm557279 6 56420158 [T/C] NR_046940,NM_015548 RNU6-71,DST EXON Silent,Missense_V2418I exm557280 6 56420275 [T/G] NR_046940,NM_015548 RNU6-71,DST EXON Silent,Missense_K2379Q exm557288 6 56420479 [T/G] NR_046940,NM_015548 RNU6-71,DST EXON Silent,Missense_Q2311K exm557289 6 56420538 [T/C] NR_046940,NM_015548 RNU6-71,DST EXON Silent,Missense_R2291H exm557291 6 56420548 [T/G] NR_046940,NM_015548 RNU6-71,DST EXON Silent,Missense_P2288T exm557301 6 56422296 [T/G] NR_046940,NM_015548 RNU6-71,DST EXON Silent,Missense_N2198H exm557303 6 56425092 [T/C] NR_046940,NM_015548 RNU6-71,DST EXON Silent,Missense_D2191N exm557308 6 56425220 [A/G] NR_046940,NM_015548 RNU6-71,DST EXON Silent,Missense_S2148L exm557313 6 56426192 [T/C] NR_046940,NM_015548 RNU6-71,DST EXON Silent,Missense_K2119E exm557315 6 56426242 [T/C] NR_046940,NM_015548 RNU6-71,DST EXON Silent,Missense_K2102R exm557316 6 56426246 [A/G] NR_046940,NM_015548 RNU6-71,DST EXON Silent,Missense_S2101P exm557318 6 56426266 [A/G] NR_046940,NM_015548 RNU6-71,DST EXON Silent,Missense_A2094V exm557329 6 56434712 [T/G] NR_046940,NM_015548 RNU6-71,DST EXON Silent,Missense_P1984H exm557334 6 56437021 [A/G] NR_046940,NM_015548 RNU6-71,DST EXON Silent,Missense_V1910A exm557339 6 56437738 [A/G] NR_046940,NM_015548 RNU6-71,DST EXON Silent,Missense_L1831S exm557341 6 56437826 [T/C] NR_046940,NM_015548 RNU6-71,DST EXON Silent,Missense_I1802V exm557347 6 56438649 [C/G] NR_046940,NM_015548 RNU6-71,DST EXON Silent,Missense_S1732C exm557353 6 56457044 [T/C] NR_046940,NM_015548 RNU6-71,DST EXON Silent,Missense_K1657R exm557358 6 56457152 [T/C] NR_046940,NM_015548 RNU6-71,DST EXON Silent,Missense_N1621S exm557362 6 56458507 [T/C] NR_046940,NM_015548 RNU6-71,DST EXON Silent,Missense_R1604H exm2129308 6 56458703 [T/C] NR_046940,NM_015548 RNU6-71,DST EXON Silent,Missense_A1539T exm557377 6 56462642 [T/C] NR_046940,NM_015548 RNU6-71,DST EXON Silent,Missense_I1408V exm557379 6 56462690 [T/A] NR_046940,NM_015548 RNU6-71,DST EXON Silent,Missense_I1392F exm557383 6 56463371 [T/G] NR_046940,NM_015548 RNU6-71,DST EXON Silent,Missense_A1321D exm557385 6 56463410 [T/C] NR_046940,NM_015548 RNU6-71,DST EXON Silent,Missense_Q1308R exm557389 6 56464880 [T/G] NR_046940,NM_015548 RNU6-71,DST EXON Silent,Missense_Q1271P exm557395 6 56464967 [T/C] NR_046940,NM_015548 RNU6-71,DST EXON Silent,Missense_D1242G exm557607 6 56475265 [T/G] NR_046940,NM_015548 RNU6-71,DST EXON Silent,Missense_Q1211P exm557609 6 56475278 [T/G] NR_046940,NM_015548 RNU6-71,DST EXON Silent,Missense_L1207M exm557616 6 56479215 [A/T] NR_046940,NM_015548 RNU6-71,DST EXON Silent,Missense_N1129I exm2129355 6 56479222 [A/C] NR_046940,NM_015548 RNU6-71,DST EXON Silent,Missense_V1127L exm557624 6 56480500 [T/C] NR_046940,NM_015548,NM_001723 RNU6-71,DST,DST EXON Silent,Silent,Missense_I2589V exm557629 6 56480605 [A/G] NR_046940,NM_015548,NM_001723 RNU6-71,DST,DST EXON Silent,Silent,Nonsense_R2554X exm557638 6 56480713 [A/G] NR_046940,NM_015548,NM_001723 RNU6-71,DST,DST EXON Silent,Silent,Nonsense_R2518X exm557654 6 56481060 [T/C] NR_046940,NM_015548,NM_001723 RNU6-71,DST,DST EXON Silent,Silent,Missense_N2402S exm557657 6 56481130 [T/C] NR_046940,NM_015548,NM_001723 RNU6-71,DST,DST EXON Silent,Silent,Missense_A2379T exm557669 6 56481397 [T/C] NR_046940,NM_015548,NM_001723 RNU6-71,DST,DST EXON Silent,Silent,Missense_R2290G exm557684 6 56481864 [A/G] NR_046940,NM_015548,NM_001723 RNU6-71,DST,DST EXON Silent,Silent,Missense_T2134M exm557686 6 56481892 [T/C] NR_046940,NM_015548,NM_001723 RNU6-71,DST,DST EXON Silent,Silent,Missense_V2125I exm557700 6 56482801 [C/G] NR_046940,NM_015548,NM_001723 RNU6-71,DST,DST EXON Silent,Silent,Missense_V2011L exm557707 6 56482902 [G/C] NR_046940,NM_015548,NM_001723 RNU6-71,DST,DST EXON Silent,Silent,Missense_T1977R exm557708 6 56482909 [A/G] NR_046940,NM_015548,NM_001723 RNU6-71,DST,DST EXON Silent,Silent,Missense_P1975S exm557709 6 56482911 [T/C] NR_046940,NM_015548,NM_001723 RNU6-71,DST,DST EXON Silent,Silent,Missense_N1974S exm557710 6 56482923 [A/G] NR_046940,NM_015548,NM_001723 RNU6-71,DST,DST EXON Silent,Silent,Missense_F1970S exm557714 6 56482993 [T/C] NR_046940,NM_015548,NM_001723 RNU6-71,DST,DST EXON Silent,Silent,Missense_E1947K exm557717 6 56483052 [T/C] NR_046940,NM_015548,NM_001723 RNU6-71,DST,DST EXON Silent,Silent,Missense_H1927R exm557723 6 56483313 [T/C] NR_046940,NM_015548,NM_001723 RNU6-71,DST,DST EXON Silent,Silent,Missense_R1840H exm557724 6 56483347 [G/C] NR_046940,NM_015548,NM_001723 RNU6-71,DST,DST EXON Silent,Silent,Missense_Q1829E exm557725 6 56483361 [T/C] NR_046940,NM_015548,NM_001723 RNU6-71,DST,DST EXON Silent,Silent,Missense_H1824R exm557727 6 56483404 [A/G] NR_046940,NM_015548,NM_001723 RNU6-71,DST,DST EXON Silent,Silent,Missense_Y1810H exm557728 6 56483409 [T/C] NR_046940,NM_015548,NM_001723 RNU6-71,DST,DST EXON Silent,Silent,Missense_Q1808R exm557738 6 56483679 [T/G] NR_046940,NM_015548,NM_001723 RNU6-71,DST,DST EXON Silent,Silent,Missense_K1718T exm557741 6 56483737 [T/C] NR_046940,NM_015548,NM_001723 RNU6-71,DST,DST EXON Silent,Silent,Missense_E1699K exm557748 6 56483871 [A/G] NR_046940,NM_015548,NM_001723 RNU6-71,DST,DST EXON Silent,Silent,Missense_A1654V exm557751 6 56483956 [A/G] NR_046940,NM_015548,NM_001723 RNU6-71,DST,DST EXON Silent,Silent,Missense_R1626C exm557757 6 56484060 [T/G] NR_046940,NM_015548,NM_001723 RNU6-71,DST,DST EXON Silent,Silent,Missense_Q1591P exm557759 6 56484103 [T/C] NR_046940,NM_015548,NM_001723 RNU6-71,DST,DST EXON Silent,Silent,Missense_E1577K exm557764 6 56484281 [T/G] NR_046940,NM_015548,NM_001723 RNU6-71,DST,DST EXON Silent,Silent,Missense_L1517F exm557772 6 56484432 [T/C] NR_046940,NM_015548,NM_001723 RNU6-71,DST,DST EXON Silent,Silent,Missense_R1467H exm557779 6 56484543 [A/G] NR_046940,NM_015548,NM_001723 RNU6-71,DST,DST EXON Silent,Silent,Missense_A1430V exm557791 6 56484772 [T/G] NR_046940,NM_015548,NM_001723 RNU6-71,DST,DST EXON Silent,Silent,Missense_Q1354K exm557792 6 56484783 [A/G] NR_046940,NM_015548,NM_001723 RNU6-71,DST,DST EXON Silent,Silent,Missense_T1350M exm2129389 6 56484876 [T/G] NR_046940,NM_015548,NM_001723 RNU6-71,DST,DST EXON Silent,Silent,Missense_A1319E exm557796 6 56484928 [T/G] NR_046940,NM_015548,NM_001723 RNU6-71,DST,DST EXON Silent,Silent,Missense_K1302Q exm557799 6 56484979 [T/C] NR_046940,NM_015548,NM_001723 RNU6-71,DST,DST EXON Silent,Silent,Missense_E1285K exm557801 6 56485023 [T/C] NR_046940,NM_015548,NM_001723 RNU6-71,DST,DST EXON Silent,Silent,Missense_K1270R exm557805 6 56485113 [T/C] NR_046940,NM_015548,NM_001723 RNU6-71,DST,DST EXON Silent,Silent,Missense_N1240S exm557809 6 56485161 [A/G] NR_046940,NM_015548,NM_001723 RNU6-71,DST,DST EXON Silent,Silent,Missense_A1224V exm557816 6 56485396 [T/C] NR_046940,NM_015548,NM_001723 RNU6-71,DST,DST EXON Silent,Silent,Missense_M1146V exm2129394 6 56485462 [A/G] NR_046940,NM_015548,NM_001723 RNU6-71,DST,DST EXON Silent,Silent,Nonsense_Q1124X exm557817 6 56485486 [A/G] NR_046940,NM_015548,NM_001723 RNU6-71,DST,DST EXON Silent,Silent,Missense_H1116Y exm557818 6 56485496 [C/G] NR_046940,NM_015548,NM_001723 RNU6-71,DST,DST EXON Silent,Silent,Missense_E1112D exm557833 6 56492809 [C/G] NR_046940,NM_015548,NM_001723 RNU6-71,DST,DST EXON Silent,Missense_L1005F,Missense_L1005F exm557834 6 56492845 [A/C] NR_046940,NM_015548,NM_001723 RNU6-71,DST,DST EXON Silent,Missense_N993K,Missense_N993K exm557841 6 56494133 [A/G] NR_046940,NM_015548,NM_001723 RNU6-71,DST,DST EXON Silent,Missense_R927W,Missense_R927W exm2129410 6 56494193 [T/C] NR_046940,NM_015548,NM_001723 RNU6-71,DST,DST EXON Silent,Missense_E907K,Missense_E907K exm557846 6 56496031 [T/C] NR_046940,NM_015548,NM_001723 RNU6-71,DST,DST EXON Silent,Missense_M837V,Missense_M837V exm557848 6 56496105 [A/G] NR_046940,NM_015548,NM_001723 RNU6-71,DST,DST EXON Silent,Missense_A812V,Missense_A812V exm557854 6 56496791 [T/C] NR_046940,NM_015548,NM_001723 RNU6-71,DST,DST EXON Silent,Missense_N748D,Missense_N748D exm557858 6 56497683 [A/G] NR_046940,NM_015548,NM_001723 RNU6-71,DST,DST EXON Silent,Synonymous_Y721Y,Synonymous_Y721Y exm2257878 6 56497683 [A/G] NR_046940,NM_015548,NM_001723 RNU6-71,DST,DST EXON Silent,Synonymous_Y721Y,Synonymous_Y721Y exm557864 6 56497835 [T/G] NR_046940,NM_015548,NM_001723 RNU6-71,DST,DST EXON Silent,Missense_I671L,Missense_I671L exm557870 6 56498994 [T/C] NR_046940,NM_015548,NM_001723 RNU6-71,DST,DST EXON Silent,Missense_S649N,Missense_S649N exm557896 6 56504071 [A/G] NR_046940,NM_015548,NM_001723 RNU6-71,DST,DST EXON Silent,Missense_R447W,Missense_R447W exm557903 6 56504402 [G/C] NR_046940,NM_015548,NM_001723 RNU6-71,DST,DST EXON Silent,Missense_S365C,Missense_S365C exm557910 6 56504842 [T/C] NR_046940,NM_015548,NM_001723 RNU6-71,DST,DST EXON Silent,Missense_R298H,Missense_R298H exm557915 6 56505081 [C/G] NR_046940,NM_015548,NM_001723 RNU6-71,DST,DST EXON Silent,Missense_P247A,Missense_P247A exm2257879 6 56505175 [T/A] NR_046940,NM_015548,NM_001723 RNU6-71,DST,DST EXON Silent,Synonymous_S215S,Synonymous_S215S exm557923 6 56505306 [T/C] NR_046940,NM_015548,NM_001723 RNU6-71,DST,DST EXON Silent,Missense_M172V,Missense_M172V exm557928 6 56505389 [T/C] NR_046940,NM_015548,NM_001723 RNU6-71,DST,DST EXON Silent,Missense_R144H,Missense_R144H exm557942 6 56507489 [A/G] NR_046940,NM_015548,NM_001723 RNU6-71,DST,DST EXON Silent,Missense_L33S,Missense_L33S exm557945 6 56507562 [A/G] NR_046940,NM_015548,NM_001723 RNU6-71,DST,DST EXON Silent,Missense_R9C,Missense_R9C exm2270479 6 56537363 [T/C] NR_046940 RNU6-71 Silent exm558001 6 56846621 [A/G] NM_152731 BEND6 EXON Missense_V5M exm558004 6 56857189 [T/C] NM_152731 BEND6 EXON Missense_S45L exm558009 6 56857324 [A/G] NM_152731 BEND6 EXON Missense_R90Q exm558012 6 56879990 [A/C] NM_152731 BEND6 EXON Missense_K120Q exm558014 6 56880051 [T/C] NM_152731 BEND6 EXON Missense_S140L exm558038 6 56917508 [T/C] NM_020931 KIAA1586 EXON Nonsense_R71X exm558040 6 56917520 [T/C] NM_020931 KIAA1586 EXON Missense_F75L exm558041 6 56917538 [A/G] NM_020931 KIAA1586 EXON Missense_V81M exm558049 6 56917644 [T/G] NM_020931 KIAA1586 EXON Missense_I116S exm558056 6 56917907 [T/C] NM_020931 KIAA1586 EXON Nonsense_R204X exm558062 6 56918076 [A/G] NM_020931 KIAA1586 EXON Missense_N260S exm558063 6 56918118 [A/G] NM_020931 KIAA1586 EXON Missense_E274G exm558069 6 56918288 [A/G] NM_020931 KIAA1586 EXON Missense_V331M exm558071 6 56918313 [A/T] NM_020931 KIAA1586 EXON Missense_Q339L exm558078 6 56918592 [T/C] NM_020931 KIAA1586 EXON Missense_S432F exm558080 6 56918598 [T/G] NM_020931 KIAA1586 EXON Missense_I434R exm558090 6 56918829 [T/C] NM_020931 KIAA1586 EXON Missense_S511F exm2244328 6 56919066 [T/C] NM_020931 KIAA1586 EXON Missense_I590T exm558104 6 56919311 [T/C] NM_020931 KIAA1586 EXON Missense_R672W exm558108 6 56919345 [A/G] NM_020931 KIAA1586 EXON Missense_N683S exm558113 6 56919443 [A/G] NM_020931 KIAA1586 EXON Missense_I716V exm558141 6 56989535 [A/C] NM_001031623,NM_015555 ZNF451,ZNF451 EXON Missense_N64H,Missense_N64H exm558144 6 56989604 [T/C] NM_001031623,NM_015555 ZNF451,ZNF451 EXON Missense_R87C,Missense_R87C exm2275892 6 56989605 [A/G] NM_001031623,NM_015555 ZNF451,ZNF451 EXON Missense_R87H,Missense_R87H exm558153 6 56999585 [A/C] NM_001031623,NM_015555 ZNF451,ZNF451 EXON Missense_P207T,Missense_P207T exm558162 6 57006829 [C/G] NM_001031623,NM_015555 ZNF451,ZNF451 EXON Missense_Q314E,Missense_Q314E exm558172 6 57012130 [A/G] NM_001031623,NM_015555 ZNF451,ZNF451 EXON Missense_H416R,Missense_H416R exm558181 6 57012328 [A/G] NM_001031623,NM_015555 ZNF451,ZNF451 EXON Missense_S482N,Missense_S482N exm558194 6 57012673 [T/C] NM_001031623,NM_015555 ZNF451,ZNF451 EXON Missense_P597L,Missense_P597L exm558202 6 57012785 [A/T] NM_001031623,NM_015555 ZNF451,ZNF451 EXON Missense_H634Q,Missense_H634Q exm558205 6 57012840 [T/C] NM_001031623,NM_015555 ZNF451,ZNF451 EXON Nonsense_R653X,Nonsense_R653X exm558214 6 57013173 [T/A] NM_001031623,NM_015555 ZNF451,ZNF451 EXON Missense_N764Y,Missense_N764Y exm2129526 6 57013370 [A/C] NM_001031623,NM_015555 ZNF451,ZNF451 EXON Missense_N829K,Missense_N829K exm558275 6 57058678 [T/G] NM_016277,NM_183227 RAB23,RAB23 EXON Missense_E179A,Missense_E179A exm558281 6 57059615 [A/T] NM_016277,NM_183227 RAB23,RAB23 EXON Nonsense_L145X,Nonsense_L145X exm558282 6 57061264 [T/C] NM_016277,NM_183227 RAB23,RAB23 EXON Missense_D128N,Missense_D128N exm558283 6 57061300 [T/C] NM_016277,NM_183227 RAB23,RAB23 EXON Missense_T116A,Missense_T116A exm558287 6 57061345 [A/C] NM_016277,NM_183227 RAB23,RAB23 EXON Missense_S101A,Missense_S101A exm2270480 6 57133333 [T/C] exm558300 6 57185345 [A/G] NM_000947 PRIM2 EXON Missense_K82R exm558309 6 57190809 [T/A] NM_000947 PRIM2 EXON Missense_D142V exm558318 6 57244745 [T/C] NM_000947 PRIM2 EXON Missense_S169L exm558331 6 57246878 [T/C] NM_000947 PRIM2 EXON Missense_L202S exm558335 6 57246925 [A/G] NM_000947 PRIM2 EXON Missense_I218V exm558339 6 57372287 [C/G] NM_000947 PRIM2 Silent exm558341 6 57372310 [T/C] NM_000947 PRIM2 EXON Missense_A239V exm558342 6 57372328 [T/G] NM_000947 PRIM2 EXON Missense_R245I exm558348 6 57393126 [T/G] NM_000947 PRIM2 EXON Missense_S259I exm558351 6 57393172 [A/T] NM_000947 PRIM2 EXON Missense_D274E exm558364 6 57398243 [A/G] NM_000947 PRIM2 EXON Missense_I316V exm558369 6 57398318 [A/G] NM_000947 PRIM2 Silent exm2270332 6 57414234 [T/G] NM_000947 PRIM2 Silent exm558370 6 57467084 [A/G] NM_000947 PRIM2 EXON Missense_D342G exm558371 6 57467093 [A/G] NM_000947 PRIM2 EXON Missense_Y345C exm558374 6 57467108 [A/G] NM_000947 PRIM2 EXON Missense_R350H exm558385 6 57472406 [G/C] NM_000947 PRIM2 EXON Missense_Q399E exm558386 6 57472431 [T/G] NM_000947 PRIM2 EXON Missense_G407V exm558389 6 57498965 [A/G] NM_000947 PRIM2 Silent exm558390 6 57499035 [T/C] NM_000947 PRIM2 EXON Synonymous_N433N exm558392 6 57512510 [T/G] NM_000947 PRIM2 EXON Missense_H446Q exm558393 6 57512529 [A/C] NM_000947 PRIM2 EXON Missense_R453S exm-rs9500256 6 58308955 [A/G] exm2270333 6 58344955 [T/G] exm2270481 6 58345052 [T/C] exm2262150 6 58728413 [T/C] exm558408 6 62284240 [A/G] exm558410 6 62390900 [C/G] NM_152688 KHDRBS2 EXON Missense_G340R exm558414 6 62390941 [T/C] NM_152688 KHDRBS2 EXON Missense_R326H exm558423 6 62407138 [T/C] NM_152688 KHDRBS2 EXON Missense_Y305C exm558425 6 62442594 [T/C] NM_152688 KHDRBS2 EXON Missense_T296A exm558427 6 62442602 [A/G] NM_152688 KHDRBS2 EXON Missense_A293V exm558434 6 62604601 [A/G] NM_152688 KHDRBS2 EXON Missense_A250V exm2129678 6 62604655 [A/G] NM_152688 KHDRBS2 EXON Missense_A232V exm558440 6 62604685 [A/G] NM_152688 KHDRBS2 EXON Missense_T222I exm558441 6 62604697 [T/C] NM_152688 KHDRBS2 EXON Missense_R218Q exm558448 6 62611203 [T/C] NM_152688 KHDRBS2 EXON Missense_R186H exm-rs6455128 6 62697746 [A/C] NM_152688 KHDRBS2 Silent exm2262152 6 62759028 [T/G] NM_152688 KHDRBS2 Silent exm2257888 6 62775947 [T/C] NM_152688 KHDRBS2 Silent exm558462 6 62887200 [T/C] NM_152688 KHDRBS2 EXON Missense_G37S exm-rs682238 6 63160147 [C/G] exm2266199 6 63389189 [A/G] exm2264200 6 63496747 [A/C] exm558480 6 63989982 [A/T] NM_016571,NM_001143940 LGSN,LGSN EXON Missense_L492M,Silent exm558485 6 63990101 [A/G] NM_016571,NM_001143940 LGSN,LGSN EXON Missense_P452L,Silent exm558494 6 63990245 [T/C] NM_016571,NM_001143940 LGSN,LGSN EXON Missense_R404Q,Silent exm558500 6 63990395 [T/G] NM_016571,NM_001143940 LGSN,LGSN EXON Missense_A354E,Silent exm558502 6 63990415 [A/T] NM_016571,NM_001143940 LGSN,LGSN EXON Synonymous_G347G,Missense_D207V exm558506 6 63990458 [T/C] NM_016571,NM_001143940 LGSN,LGSN EXON Missense_G333E,Missense_E193K exm558511 6 63990545 [A/G] NM_016571,NM_001143940 LGSN,LGSN EXON Missense_I304T,Silent exm558517 6 63990623 [G/C] NM_016571,NM_001143940 LGSN,LGSN EXON Nonsense_S278X,Silent exm558518 6 63990648 [A/G] NM_016571,NM_001143940 LGSN,LGSN EXON Missense_F270L,Silent exm2129724 6 63990777 [G/C] NM_016571,NM_001143940 LGSN,LGSN EXON Missense_P227A,Silent exm558530 6 63990900 [A/G] NM_016571,NM_001143940 LGSN,LGSN EXON Missense_Y186H,Silent exm558540 6 63991034 [A/G] NM_016571,NM_001143940 LGSN,LGSN EXON Missense_T141I,Missense_T141I exm558542 6 63991047 [T/G] NM_016571,NM_001143940 LGSN,LGSN EXON Missense_N137H,Missense_N137H exm558558 6 64004844 [T/C] NM_016571,NM_001143940 LGSN,LGSN EXON Missense_G46E,Missense_G46E exm558559 6 64004905 [A/T] NM_016571,NM_001143940 LGSN,LGSN EXON Missense_N26Y,Missense_N26Y exm2270485 6 64081606 [T/G] exm2129755 6 64389915 [A/G] NM_015153 PHF3 EXON Missense_D87N exm558589 6 64389968 [A/T] NM_015153 PHF3 EXON Missense_E104D exm558595 6 64394066 [A/G] NM_015153 PHF3 EXON Missense_K148R exm558596 6 64394077 [T/G] NM_015153 PHF3 EXON Missense_A152S exm558603 6 64394320 [A/G] NM_015153 PHF3 EXON Missense_G233R exm558604 6 64394360 [T/C] NM_015153 PHF3 EXON Missense_I246T exm2129758 6 64394450 [A/G] NM_015153 PHF3 EXON Missense_C276Y exm558616 6 64394837 [T/C] NM_015153 PHF3 EXON Missense_A405V exm558619 6 64394917 [A/G] NM_015153 PHF3 EXON Missense_E432K exm558622 6 64394983 [A/G] NM_015153 PHF3 EXON Missense_I454V exm558629 6 64395045 [G/C] NM_015153 PHF3 EXON Missense_Q474H exm558638 6 64395196 [A/G] NM_015153 PHF3 EXON Missense_V525I exm558644 6 64395427 [A/G] NM_015153 PHF3 EXON Missense_A602T exm558647 6 64395434 [G/C] NM_015153 PHF3 EXON Missense_P604R exm558649 6 64395550 [A/G] NM_015153 PHF3 EXON Missense_V643M exm558651 6 64395582 [C/G] NM_015153 PHF3 EXON Missense_E653D exm558662 6 64401709 [A/G] NM_015153 PHF3 EXON Missense_G758S exm558664 6 64401712 [A/G] NM_015153 PHF3 EXON Missense_E759K exm2129769 6 64401857 [T/C] NM_015153 PHF3 EXON Missense_L807S exm2129770 6 64401860 [T/C] NM_015153 PHF3 EXON Missense_S808L exm558675 6 64404472 [A/C] NM_015153 PHF3 EXON Missense_E833A exm558681 6 64404568 [G/C] NM_015153 PHF3 EXON Missense_P865R exm558682 6 64404570 [T/C] NM_015153 PHF3 EXON Missense_R866W exm558685 6 64404624 [A/G] NM_015153 PHF3 EXON Missense_T884A exm558687 6 64404642 [C/G] NM_015153 PHF3 EXON Missense_A890P exm558688 6 64408113 [T/G] NM_015153 PHF3 EXON Missense_G894V exm558694 6 64410356 [T/C] NM_015153 PHF3 EXON Synonymous_H1033H exm558699 6 64413438 [A/C] NM_015153 PHF3 EXON Missense_N1082H exm558700 6 64413470 [A/C] NM_015153 PHF3 EXON Missense_E1092D exm558709 6 64416684 [A/G] NM_015153 PHF3 EXON Missense_K1210R exm558721 6 64421575 [T/C] NM_015153 PHF3 EXON Missense_I1364T exm558723 6 64421595 [A/G] NM_015153 PHF3 EXON Missense_A1371T exm558729 6 64421847 [A/G] NM_015153 PHF3 EXON Missense_T1455A exm558730 6 64421939 [G/C] NM_015153 PHF3 EXON Missense_Q1485H exm558733 6 64422021 [T/G] NM_015153 PHF3 EXON Missense_V1513L exm558741 6 64422311 [G/C] NM_015153 PHF3 EXON Missense_Q1609H exm558743 6 64422367 [A/T] NM_015153 PHF3 EXON Missense_N1628I exm558747 6 64422499 [C/G] NM_015153 PHF3 EXON Missense_S1672T exm558748 6 64422504 [T/C] NM_015153 PHF3 EXON Missense_R1674W exm558749 6 64422505 [A/G] NM_015153 PHF3 EXON Missense_R1674Q exm2129805 6 64422610 [G/C] NM_015153 PHF3 EXON Missense_C1709S exm558763 6 64422859 [G/C] NM_015153 PHF3 EXON Missense_S1792T exm558773 6 64423093 [T/G] NM_015153 PHF3 EXON Missense_G1870V exm558777 6 64423242 [T/C] NM_015153 PHF3 EXON Missense_R1920C exm558784 6 64423330 [G/C] NM_015153 PHF3 EXON Missense_R1949T exm558787 6 64423411 [A/G] NM_015153 PHF3 EXON Missense_H1976R exm558806 6 64431505 [T/C] NM_001142800 EYS EXON Missense_A2808T exm558813 6 64498024 [T/C] NM_001142800 EYS EXON Missense_G2566E exm558814 6 64498055 [T/A] NM_001142800 EYS EXON Missense_S2556C exm558816 6 64498124 [T/C] NM_001142800 EYS EXON Missense_K2533E exm2266200 6 64613740 [A/G] NM_001142800 EYS Silent exm558827 6 64694297 [T/C] NM_001142800 EYS EXON Missense_R2345H exm558828 6 64694325 [T/C] NM_001142800 EYS EXON Missense_V2336I exm558829 6 64694354 [T/C] NM_001142800 EYS EXON Missense_R2326Q exm558846 6 64791868 [T/C] NM_001142800 EYS EXON Missense_N2151S exm2270486 6 64842960 [T/G] NM_001142800 EYS Silent exm558852 6 64940625 [A/G] NM_001142800 EYS EXON Missense_P2095L exm558862 6 65098684 [T/C] NM_001142800 EYS EXON Missense_T1993A exm558868 6 65149147 [T/C] NM_001142800 EYS EXON Missense_S1915G exm558869 6 65149185 [T/A] NM_001142800 EYS EXON Missense_N1902I exm558871 6 65300131 [A/G] NM_001142800 EYS EXON Missense_R1877W exm558872 6 65300143 [G/C] NM_001142800 EYS EXON Missense_L1873V exm558876 6 65300250 [G/C] NM_001142800 EYS EXON Missense_W1837S exm558883 6 65300516 [T/G] NM_001142800 EYS EXON Missense_L1748F exm2244347 6 65300620 [T/G] NM_001142800 EYS EXON Missense_T1714P exm558889 6 65300775 [A/T] NM_001142800 EYS EXON Missense_D1662V exm558892 6 65300869 [A/G] NM_001142800 EYS EXON Missense_P1631S exm2257894 6 65301167 [T/C] NM_001142800 EYS EXON Synonymous_E1531E exm558900 6 65301211 [T/C] NM_001142800 EYS EXON Missense_S1517G exm558901 6 65301217 [A/G] NM_001142800 EYS EXON Missense_R1515W exm558904 6 65301408 [A/G] NM_001142800 EYS EXON Missense_I1451T exm558906 6 65301496 [T/A] NM_001142800 EYS EXON Missense_T1422S exm558907 6 65301504 [A/G] NM_001142800 EYS EXON Missense_L1419S exm558911 6 65301667 [T/C] NM_001142800 EYS EXON Missense_K1365E exm558912 6 65301679 [T/C] NM_001142800 EYS EXON Missense_I1361V exm558915 6 65301787 [C/G] NM_001142800 EYS EXON Missense_Q1325E exm558919 6 65303100 [T/C] NM_001142800 EYS EXON Missense_I1263V exm2266201 6 65316377 [A/G] NM_001142800 EYS Silent exm2262157 6 65455894 [A/G] NM_001142800 EYS Silent exm558927 6 65523385 [G/C] NM_001142800 EYS EXON Missense_T1110S exm2266202 6 65620858 [A/G] NM_001142800 EYS Silent exm558945 6 65622463 [A/G] NM_001142800 EYS EXON Missense_L852P exm558954 6 65707500 [T/C] NM_001142800 EYS EXON Missense_N745S exm558968 6 65767617 [A/G] NM_001142800 EYS EXON Missense_T676M exm558970 6 66005794 [A/C] NM_001142800 EYS EXON Missense_R662M exm558972 6 66005857 [A/T] NM_001142800 EYS EXON Missense_E641V exm558973 6 66005888 [T/C] NM_001142800 EYS EXON Missense_G631S exm558977 6 66042231 [T/G] NM_001142800,NM_001142801 EYS,EYS EXON Silent,Missense_I616L exm558979 6 66042279 [T/C] NM_001142800,NM_001142801 EYS,EYS EXON Silent,Missense_I600V exm558984 6 66044891 [T/G] NM_001142800,NM_001142801,NM_198283 EYS,EYS,EYS EXON Missense_D583A,Missense_D583A,Missense_D583A exm558986 6 66044927 [T/C] NM_001142800,NM_001142801,NM_198283 EYS,EYS,EYS EXON Missense_Q571R,Missense_Q571R,Missense_Q571R exm558988 6 66044979 [T/A] NM_001142800,NM_001142801,NM_198283 EYS,EYS,EYS EXON Missense_C554S,Missense_C554S,Missense_C554S exm558994 6 66045026 [T/C] NM_001142800,NM_001142801,NM_198283 EYS,EYS,EYS EXON Missense_G538E,Missense_G538E,Missense_G538E exm2129840 6 66063428 [T/C] NM_001142800,NM_001142801,NM_198283 EYS,EYS,EYS EXON Missense_C461Y,Missense_C461Y,Missense_C461Y exm2257897 6 66083780 [A/G] NM_001142800,NM_001142801,NM_198283 EYS,EYS,EYS Silent,Silent,Silent exm2129846 6 66094325 [T/C] NM_001142800,NM_001142801,NM_198283 EYS,EYS,EYS EXON Missense_N418S,Missense_N418S,Missense_N418S exm559015 6 66094360 [A/C] NM_001142800,NM_001142801,NM_198283 EYS,EYS,EYS EXON Missense_E406D,Missense_E406D,Missense_E406D exm559021 6 66112473 [A/G] NM_001142800,NM_001142801,NM_198283 EYS,EYS,EYS EXON Missense_I361T,Missense_I361T,Missense_I361T exm559022 6 66112496 [T/A] NM_001142800,NM_001142801,NM_198283 EYS,EYS,EYS EXON Missense_D353E,Missense_D353E,Missense_D353E exm559025 6 66115135 [T/C] NM_001142800,NM_001142801,NM_198283 EYS,EYS,EYS EXON Missense_E330K,Missense_E330K,Missense_E330K exm559027 6 66115146 [T/C] NM_001142800,NM_001142801,NM_198283 EYS,EYS,EYS EXON Missense_S326N,Missense_S326N,Missense_S326N exm559044 6 66204585 [T/C] NM_001142800,NM_001142801,NM_198283 EYS,EYS,EYS EXON Missense_Y240C,Missense_Y240C,Missense_Y240C exm559045 6 66204588 [A/G] NM_001142800,NM_001142801,NM_198283 EYS,EYS,EYS EXON Missense_A239V,Missense_A239V,Missense_A239V exm559058 6 66204932 [T/G] NM_001142800,NM_001142801,NM_198283 EYS,EYS,EYS EXON Missense_L124F,Missense_L124F,Missense_L124F exm559059 6 66204945 [A/G] NM_001142800,NM_001142801,NM_198283 EYS,EYS,EYS EXON Missense_T120M,Missense_T120M,Missense_T120M exm559062 6 66205023 [T/G] NM_001142800,NM_001142801,NM_198283 EYS,EYS,EYS EXON Missense_P94Q,Missense_P94Q,Missense_P94Q exm2270487 6 66318585 [T/C] NM_001142800,NM_001142801 EYS,EYS Silent,Silent exm-rs9354308 6 66565353 [A/G] exm2266204 6 66700271 [A/G] exm2257899 6 66853636 [A/G] exm2266313 6 67238099 [A/G] exm2270337 6 67494388 [T/C] exm-rs11970254 6 67649216 [T/G] exm2270488 6 67717251 [T/C] exm2264173 6 67794445 [A/C] exm2266314 6 68705526 [A/G] exm2266206 6 68936718 [A/G] exm2270489 6 69254452 [T/C] exm559077 6 69348700 [A/G] NM_001704 BAI3 EXON Missense_S45G exm559081 6 69348796 [A/G] NM_001704 BAI3 EXON Missense_D77N exm559089 6 69349084 [A/G] NM_001704 BAI3 EXON Missense_T173A exm2270339 6 69631411 [T/C] NM_001704 BAI3 Silent exm559110 6 69653833 [T/C] NM_001704 BAI3 EXON Missense_P381L exm559112 6 69665925 [A/T] NM_001704 BAI3 EXON Missense_Q402L exm559114 6 69665952 [A/G] NM_001704 BAI3 EXON Missense_Q411R exm559126 6 69666684 [A/G] NM_001704 BAI3 EXON Missense_N503S exm559128 6 69684657 [A/C] NM_001704 BAI3 EXON Missense_P510T exm559148 6 69728298 [A/G] NM_001704 BAI3 EXON Missense_I672V exm559150 6 69758083 [A/G] NM_001704 BAI3 EXON Missense_S705N exm2274165 6 69772866 [A/G] NM_001704 BAI3 EXON Missense_I792V exm559173 6 69944925 [T/C] NM_001704 BAI3 EXON Missense_I870T exm559175 6 69944987 [T/G] NM_001704 BAI3 EXON Missense_A891S exm559177 6 69945027 [A/G] NM_001704 BAI3 EXON Missense_R904K exm559179 6 69949023 [T/C] NM_001704 BAI3 EXON Missense_R907C exm559201 6 70064192 [T/C] NM_001704 BAI3 EXON Missense_S1176L exm2270340 6 70146474 [T/C] exm559246 6 70386413 [T/C] NM_018368 LMBRD1 EXON Missense_T480A exm559248 6 70407465 [T/A] NM_018368 LMBRD1 EXON Missense_D469E exm559250 6 70408933 [A/G] NM_018368 LMBRD1 Silent exm2129956 6 70409081 [A/G] NM_018368 LMBRD1 EXON Missense_Y398H exm559258 6 70410677 [T/C] NM_018368 LMBRD1 EXON Missense_I390V exm559261 6 70410715 [A/G] NM_018368 LMBRD1 EXON Missense_F377S exm559269 6 70423547 [T/C] NM_018368 LMBRD1 EXON Missense_R302H exm559282 6 70428889 [T/C] NM_018368 LMBRD1 EXON Missense_I241V exm559292 6 70459276 [T/C] NM_018368 LMBRD1 EXON Missense_T144A exm559305 6 70500333 [T/C] NM_018368 LMBRD1 EXON Missense_R34H exm559310 6 70506728 [A/C] NM_018368 LMBRD1 EXON Missense_C16G exm559326 6 70610207 [T/G] NM_001858 COL19A1 EXON Missense_S81R exm2244361 6 70637838 [T/G] NM_001858 COL19A1 EXON Missense_V102L exm559332 6 70637860 [A/G] NM_001858 COL19A1 EXON Missense_R109Q exm559338 6 70639408 [A/G] NM_001858 COL19A1 EXON Missense_R161Q exm559339 6 70639417 [A/G] NM_001858 COL19A1 EXON Missense_R164H exm559340 6 70639419 [C/G] NM_001858 COL19A1 EXON Missense_P165A exm559341 6 70639431 [T/C] NM_001858 COL19A1 EXON Missense_R169C exm559344 6 70639473 [A/G] NM_001858 COL19A1 EXON Missense_I183V exm559349 6 70639516 [T/C] NM_001858 COL19A1 EXON Missense_T197I exm2129994 6 70639548 [T/C] NM_001858 COL19A1 EXON Missense_R208W exm559357 6 70647939 [A/G] NM_001858 COL19A1 EXON Missense_G295R exm559361 6 70647991 [T/C] NM_001858 COL19A1 EXON Missense_P312L exm559372 6 70672731 [T/G] NM_001858 COL19A1 EXON Missense_F332C exm559377 6 70733547 [G/C] NM_001858 COL19A1 EXON Missense_A352G exm2130006 6 70744192 [T/C] NM_001858 COL19A1 Silent exm559385 6 70745818 [A/C] NM_001858 COL19A1 EXON Missense_P386Q exm559392 6 70778368 [A/G] NM_001858 COL19A1 EXON Synonymous_R408R exm2274166 6 70840095 [A/G] NM_001858 COL19A1 EXON Missense_G455R exm559412 6 70850846 [A/G] NM_001858 COL19A1 EXON Missense_G483R exm559413 6 70851789 [A/G] NM_001858 COL19A1 EXON Missense_E496G exm559418 6 70852698 [A/C] NM_001858 COL19A1 EXON Missense_P538T exm559419 6 70852699 [T/C] NM_001858 COL19A1 EXON Missense_P538L exm559440 6 70856585 [A/G] NM_001858 COL19A1 EXON Missense_R602H exm559445 6 70856731 [A/G] NM_001858 COL19A1 EXON Missense_G615S exm559447 6 70856743 [A/G] NM_001858 COL19A1 EXON Missense_D619N exm559453 6 70859609 [A/C] NM_001858 COL19A1 EXON Missense_P636Q exm559468 6 70866095 [T/C] NM_001858 COL19A1 EXON Missense_P719L exm559471 6 70866220 [T/C] NM_001858 COL19A1 EXON Missense_P733S exm559473 6 70866229 [A/C] NM_001858 COL19A1 EXON Missense_P736T exm559477 6 70866577 [T/C] NM_001858 COL19A1 EXON Missense_R752W exm559485 6 70873265 [C/G] NM_001858 COL19A1 EXON Missense_P793A exm559490 6 70877936 [A/G] NM_001858 COL19A1 EXON Missense_R822Q exm559503 6 70878559 [A/G] NM_001858 COL19A1 EXON Missense_D852N exm559511 6 70890368 [T/G] NM_001858 COL19A1 EXON Missense_V910F exm559513 6 70890412 [C/G] NM_001858 COL19A1 EXON Missense_K924N exm559517 6 70894806 [A/G] NM_001858 COL19A1 EXON Missense_R952H exm559519 6 70897778 [C/G] NM_001858 COL19A1 Silent exm559528 6 70900025 [T/G] NM_001858 COL19A1 EXON Missense_A1012S exm2266208 6 70911776 [A/G] NM_001858 COL19A1 Silent exm559540 6 70916662 [T/C] NM_001858 COL19A1 EXON Missense_P1094L exm559546 6 70916883 [A/G] NM_001858 COL19A1 EXON Missense_G1112S exm559551 6 70916922 [A/C] NM_001858 COL19A1 EXON Missense_P1125T exm559554 6 70916962 [A/G] NM_001858 COL19A1 EXON Missense_R1138H exm559566 6 70926781 [T/G] NM_078485,NM_001851 COL9A1,COL9A1 EXON Missense_D619A,Missense_D862A exm559572 6 70942353 [A/C] NM_078485,NM_001851 COL9A1,COL9A1 EXON Missense_Q569H,Missense_Q812H exm559591 6 70951145 [T/C] NM_078485,NM_001851 COL9A1,COL9A1 EXON Missense_E428K,Missense_E671K exm2274167 6 70951719 [G/C] NM_078485,NM_001851 COL9A1,COL9A1 EXON Missense_G406A,Missense_G649A exm559598 6 70961833 [T/C] NM_078485,NM_001851 COL9A1,COL9A1 EXON Missense_Q378R,Missense_Q621R exm559619 6 70964697 [T/C] NM_078485,NM_001851 COL9A1,COL9A1 EXON Missense_R302H,Missense_R545H exm559628 6 70965044 [A/T] NM_078485,NM_001851 COL9A1,COL9A1 EXON Missense_D275V,Missense_D518V exm559635 6 70970386 [T/C] NM_078485,NM_001851 COL9A1,COL9A1 EXON Missense_G232S,Missense_G475S exm559642 6 70972993 [T/C] NM_078485,NM_001851 COL9A1,COL9A1 EXON Missense_E207G,Missense_E450G exm559650 6 70978512 [T/G] NM_078485,NM_001851 COL9A1,COL9A1 EXON Missense_M185L,Missense_M428L exm559658 6 70980022 [A/G] NM_078485,NM_001851 COL9A1,COL9A1 EXON Missense_P155S,Missense_P398S exm559659 6 70980028 [T/G] NM_078485,NM_001851 COL9A1,COL9A1 EXON Missense_P153T,Missense_P396T exm559666 6 70981371 [T/C] NM_078485,NM_001851 COL9A1,COL9A1 EXON Missense_R134H,Missense_R377H exm559676 6 70981787 [T/C] NM_078485,NM_001851 COL9A1,COL9A1 EXON Missense_R114H,Missense_R357H exm559681 6 70983760 [T/C] NM_078485,NM_001851 COL9A1,COL9A1 EXON Missense_R109H,Missense_R352H exm559687 6 70984436 [A/G] NM_078485,NM_001851 COL9A1,COL9A1 EXON Missense_S96P,Missense_S339P exm559703 6 70990715 [T/C] NM_078485,NM_001851 COL9A1,COL9A1 EXON Missense_G59S,Missense_G302S exm559704 6 70990717 [A/G] NM_078485,NM_001851 COL9A1,COL9A1 EXON Missense_P58L,Missense_P301L exm559711 6 70991091 [A/T] NM_078485,NM_001851 COL9A1,COL9A1 Silent,Silent exm559712 6 70991093 [A/G] NM_078485,NM_001851 COL9A1,COL9A1 EXON Synonymous_D49D,Synonymous_D292D exm559715 6 70991142 [A/G] NM_078485,NM_001851 COL9A1,COL9A1 EXON Missense_P33L,Missense_P276L exm559734 6 70993514 [A/G] NM_001851 COL9A1 EXON Nonsense_Q236X exm559736 6 71003886 [A/G] NM_001851 COL9A1 EXON Missense_P227L exm2130148 6 71003892 [A/T] NM_001851 COL9A1 EXON Missense_D225V exm2130155 6 71009809 [T/C] NM_001851 COL9A1 EXON Missense_G79E exm559770 6 71011712 [T/C] NM_001851 COL9A1 EXON Missense_R27H exm2130162 6 71011736 [A/G] NM_001851 COL9A1 EXON Missense_P19L exm559772 6 71011754 [A/G] NM_001851 COL9A1 EXON Missense_V13A exm559782 6 71162209 [A/G] NM_020819,NM_001105531,NM_001162529 FAM135A,FAM135A,FAM135A EXON Silent,Missense_R31H,Missense_R31H exm559783 6 71185149 [C/G] NM_020819,NM_001105531,NM_001162529 FAM135A,FAM135A,FAM135A EXON Silent,Missense_S65C,Missense_S65C exm559790 6 71185436 [T/C] NM_020819,NM_001105531,NM_001162529 FAM135A,FAM135A,FAM135A EXON Missense_S80L,Missense_S123L,Missense_S123L exm559798 6 71187033 [A/G] NM_020819,NM_001105531,NM_001162529 FAM135A,FAM135A,FAM135A EXON Missense_I137M,Missense_I180M,Missense_I180M exm559800 6 71190611 [T/C] NM_020819,NM_001105531,NM_001162529 FAM135A,FAM135A,FAM135A EXON Missense_R141C,Missense_R184C,Missense_R184C exm2275893 6 71190668 [A/G] NM_020819,NM_001105531,NM_001162529 FAM135A,FAM135A,FAM135A EXON Missense_V160M,Missense_V203M,Missense_V203M exm559805 6 71190687 [A/G] NM_020819,NM_001105531,NM_001162529 FAM135A,FAM135A,FAM135A EXON Missense_S166N,Missense_S209N,Missense_S209N exm559820 6 71195918 [A/C] NM_020819,NM_001105531,NM_001162529 FAM135A,FAM135A,FAM135A EXON Missense_Q248P,Silent,Silent exm559821 6 71195926 [A/G] NM_020819,NM_001105531,NM_001162529 FAM135A,FAM135A,FAM135A EXON Missense_T251A,Silent,Silent exm559827 6 71200758 [A/G] NM_020819,NM_001105531,NM_001162529 FAM135A,FAM135A,FAM135A EXON Missense_R265Q,Missense_R282Q,Missense_R282Q exm559876 6 71234919 [A/C] NM_020819,NM_001105531,NM_001162529 FAM135A,FAM135A,FAM135A EXON Missense_T498K,Missense_T515K,Missense_T711K exm559879 6 71234960 [A/G] NM_020819,NM_001105531,NM_001162529 FAM135A,FAM135A,FAM135A EXON Missense_I512V,Missense_I529V,Missense_I725V exm559880 6 71234985 [A/G] NM_020819,NM_001105531,NM_001162529 FAM135A,FAM135A,FAM135A EXON Missense_R520Q,Missense_R537Q,Missense_R733Q exm559893 6 71235363 [T/C] NM_020819,NM_001105531,NM_001162529 FAM135A,FAM135A,FAM135A EXON Missense_V646A,Missense_V663A,Missense_V859A exm559896 6 71235414 [T/C] NM_020819,NM_001105531,NM_001162529 FAM135A,FAM135A,FAM135A EXON Missense_T663M,Missense_T680M,Missense_T876M exm559900 6 71235579 [C/G] NM_020819,NM_001105531,NM_001162529 FAM135A,FAM135A,FAM135A EXON Missense_S718C,Missense_S735C,Missense_S931C exm559905 6 71235647 [T/C] NM_020819,NM_001105531,NM_001162529 FAM135A,FAM135A,FAM135A EXON Missense_P741S,Missense_P758S,Missense_P954S exm2130191 6 71235680 [A/G] NM_020819,NM_001105531,NM_001162529 FAM135A,FAM135A,FAM135A EXON Missense_I752V,Missense_I769V,Missense_I965V exm559910 6 71235852 [A/G] NM_020819,NM_001105531,NM_001162529 FAM135A,FAM135A,FAM135A EXON Missense_G809D,Missense_G826D,Missense_G1022D exm559916 6 71235993 [A/C] NM_020819,NM_001105531,NM_001162529 FAM135A,FAM135A,FAM135A EXON Missense_T856N,Missense_T873N,Missense_T1069N exm559931 6 71238105 [A/G] NM_020819,NM_001105531,NM_001162529 FAM135A,FAM135A,FAM135A EXON Missense_D1029G,Missense_D1046G,Missense_D1242G exm559934 6 71243529 [T/A] NM_020819,NM_001105531,NM_001162529 FAM135A,FAM135A,FAM135A EXON Missense_I1100L,Missense_I1117L,Missense_I1313L exm559954 6 71269470 [A/G] NM_020819,NM_001105531,NM_001162529 FAM135A,FAM135A,FAM135A EXON Missense_S1252N,Missense_S1269N,Missense_S1465N exm559962 6 71276670 [T/G] NM_145267 C6orf57 EXON Missense_L9F exm559968 6 71289188 [T/C] NM_145267 C6orf57 EXON Nonsense_Q46X exm559969 6 71289189 [A/G] NM_145267 C6orf57 EXON Missense_Q46R exm559970 6 71289221 [T/C] NM_145267 C6orf57 EXON Missense_R57C exm559973 6 71298323 [T/C] NM_145267 C6orf57 EXON Missense_P75S exm559978 6 71298411 [A/G] NM_145267 C6orf57 EXON Missense_R104H exm559987 6 71377781 [A/C] NM_001044305,NM_021940 SMAP1,SMAP1 EXON Missense_L19I,Missense_L19I exm560013 6 71546702 [T/C] NM_001044305,NM_021940 SMAP1,SMAP1 EXON Missense_A212V,Missense_A185V exm2130236 6 71567717 [C/G] NM_001044305,NM_021940 SMAP1,SMAP1 EXON Missense_A352P,Missense_A325P exm560028 6 71567784 [A/G] NM_001044305,NM_021940 SMAP1,SMAP1 EXON Missense_N374S,Missense_N347S exm2270491 6 71598545 [T/C] NM_080742 B3GAT2 Silent exm2266209 6 71609384 [A/G] NM_080742 B3GAT2 Silent exm2270341 6 71770335 [T/C] exm-rs11968814 6 71776971 [A/G] exm2270492 6 71962755 [T/C] exm2244373 6 72011301 [A/G] NM_024576 OGFRL1 EXON Missense_K302R exm2130275 6 72011352 [A/C] NM_024576 OGFRL1 EXON Missense_Q319P exm560124 6 72011478 [A/C] NM_024576 OGFRL1 EXON Missense_K361T exm-rs1727638 6 72139572 [A/G] exm2266210 6 72456393 [A/G] exm-rs10455248 6 72482458 [T/C] exm2270342 6 72674436 [T/C] NM_014989 RIMS1 Silent exm560180 6 72889549 [T/C] NM_014989 RIMS1 EXON Missense_S248L exm560187 6 72892119 [T/A] NM_014989 RIMS1 EXON Missense_E315D exm560200 6 72892633 [A/G] NM_014989 RIMS1 EXON Missense_A487T exm560206 6 72922911 [A/G] NM_014989,NM_001168407,NM_001168408 RIMS1,RIMS1,RIMS1 EXON Silent,Missense_R29Q,Missense_R29Q exm560226 6 72960085 [A/G] NM_014989,NM_001168407,NM_001168408,NM_001168409,NM_001168410 RIMS1,RIMS1,RIMS1,RIMS1,RIMS1 EXON Missense_Q765R,Missense_Q239R,Missense_Q239R,Missense_Q158R,Missense_Q224R exm2130388 6 72960751 [G/C] NM_014989,NM_001168407,NM_001168408,NM_001168409,NM_001168410 RIMS1,RIMS1,RIMS1,RIMS1,RIMS1 EXON Missense_D834H,Missense_D308H,Missense_D308H,Missense_D227H,Missense_D293H exm560269 6 72984083 [T/C] NM_014989,NM_001168407,NM_001168408,NM_001168409,NM_001168410 RIMS1,RIMS1,RIMS1,RIMS1,RIMS1 EXON Nonsense_R1144X,Silent,Silent,Silent,Silent exm560271 6 72984123 [T/C] NM_014989,NM_001168407,NM_001168408,NM_001168409,NM_001168410 RIMS1,RIMS1,RIMS1,RIMS1,RIMS1 EXON Missense_P1157L,Silent,Silent,Silent,Silent exm560279 6 73000530 [A/G] NM_014989,NM_001168407,NM_001168408,NM_001168409,NM_001168410 RIMS1,RIMS1,RIMS1,RIMS1,RIMS1 EXON Missense_G1235R,Silent,Silent,Silent,Silent exm560281 6 73000552 [T/C] NM_014989,NM_001168407,NM_001168408,NM_001168409,NM_001168410 RIMS1,RIMS1,RIMS1,RIMS1,RIMS1 EXON Missense_P1242L,Silent,Silent,Silent,Silent exm560283 6 73000563 [A/G] NM_014989,NM_001168407,NM_001168408,NM_001168409,NM_001168410 RIMS1,RIMS1,RIMS1,RIMS1,RIMS1 EXON Missense_R1246G,Silent,Silent,Silent,Silent exm2277328 6 73017069 [T/C] NM_014989,NM_001168407,NM_001168408,NM_001168409,NM_001168410 RIMS1,RIMS1,RIMS1,RIMS1,RIMS1 EXON Missense_S1320F,Missense_S640F,Silent,Silent,Silent exm560299 6 73043331 [T/C] NM_014989,NM_001168407,NM_001168408,NM_001168409,NM_001168410 RIMS1,RIMS1,RIMS1,RIMS1,RIMS1 EXON Missense_R1387W,Missense_R707W,Silent,Silent,Silent exm560330 6 73110390 [A/G] NM_014989,NM_001168407,NM_001168408,NM_001168409,NM_001168410,NM_001168411 RIMS1,RIMS1,RIMS1,RIMS1,RIMS1,RIMS1 EXON Missense_T1685A,Missense_T1005A,Missense_T810A,Missense_T753A,Missense_T819A,Missense_T212A exm2264201 6 73186272 [A/C] exm560341 6 73332249 [T/G] NM_001160134,NM_001160132,NM_001160133,NM_019842,NM_001160130 KCNQ5,KCNQ5,KCNQ5,KCNQ5,KCNQ5 EXON Missense_V111G,Missense_V111G,Missense_V111G,Missense_V111G,Missense_V111G exm2266212 6 73533851 [A/G] NM_001160134,NM_001160132,NM_001160133,NM_019842,NM_001160130 KCNQ5,KCNQ5,KCNQ5,KCNQ5,KCNQ5 Silent,Silent,Silent,Silent,Silent exm560361 6 73830249 [T/C] NM_001160134,NM_001160132,NM_001160133,NM_019842,NM_001160130 KCNQ5,KCNQ5,KCNQ5,KCNQ5,KCNQ5 EXON Missense_I390T,Missense_I390T,Missense_I390T,Missense_I390T,Missense_I390T exm2270493 6 73855954 [T/C] NM_001160134,NM_001160132,NM_001160133,NM_019842,NM_001160130 KCNQ5,KCNQ5,KCNQ5,KCNQ5,KCNQ5 Silent,Silent,Silent,Silent,Silent exm560378 6 73879547 [A/C] NM_001160134,NM_001160132,NM_001160133,NM_019842,NM_001160130 KCNQ5,KCNQ5,KCNQ5,KCNQ5,KCNQ5 EXON Silent,Missense_P526Q,Missense_P535Q,Missense_P516Q,Missense_P507Q exm560396 6 73904256 [A/G] NM_001160134,NM_001160132,NM_001160133,NM_019842,NM_001160130 KCNQ5,KCNQ5,KCNQ5,KCNQ5,KCNQ5 EXON Missense_A530T,Missense_A650T,Missense_A659T,Missense_A640T,Missense_A631T exm560400 6 73904346 [A/G] NM_001160134,NM_001160132,NM_001160133,NM_019842,NM_001160130 KCNQ5,KCNQ5,KCNQ5,KCNQ5,KCNQ5 EXON Missense_A560T,Missense_A680T,Missense_A689T,Missense_A670T,Missense_A661T exm560404 6 73904448 [A/G] NM_001160134,NM_001160132,NM_001160133,NM_019842,NM_001160130 KCNQ5,KCNQ5,KCNQ5,KCNQ5,KCNQ5 EXON Missense_A594T,Missense_A714T,Missense_A723T,Missense_A704T,Missense_A695T exm560410 6 73904557 [T/C] NM_001160134,NM_001160132,NM_001160133,NM_019842,NM_001160130 KCNQ5,KCNQ5,KCNQ5,KCNQ5,KCNQ5 EXON Missense_P630L,Missense_P750L,Missense_P759L,Missense_P740L,Missense_P731L exm560420 6 73904766 [A/G] NM_001160134,NM_001160132,NM_001160133,NM_019842,NM_001160130 KCNQ5,KCNQ5,KCNQ5,KCNQ5,KCNQ5 EXON Missense_M700V,Missense_M820V,Missense_M829V,Missense_M810V,Missense_M801V exm560429 6 73905059 [T/G] NM_001160134,NM_001160132,NM_001160133,NM_019842,NM_001160130 KCNQ5,KCNQ5,KCNQ5,KCNQ5,KCNQ5 EXON Missense_R797S,Missense_R917S,Missense_R926S,Missense_R907S,Missense_R898S exm2130489 6 73905122 [A/T] NM_001160134,NM_001160132,NM_001160133,NM_019842,NM_001160130 KCNQ5,KCNQ5,KCNQ5,KCNQ5,KCNQ5 EXON Missense_H818Q,Missense_H938Q,Missense_H947Q,Missense_H928Q,Missense_H919Q exm2273421 6 73905177 [A/G] NM_001160134,NM_001160132,NM_001160133,NM_019842,NM_001160130 KCNQ5,KCNQ5,KCNQ5,KCNQ5,KCNQ5 EXON Silent,Silent,Silent,Silent,Silent exm560431 6 73933476 [T/C] NM_001126063 KHDC1L EXON Missense_D128N exm2244408 6 73934044 [A/G] NM_001126063 KHDC1L EXON Missense_I47T exm560440 6 73934059 [G/C] NM_001126063 KHDC1L EXON Missense_T42R exm560443 6 73951280 [T/C] NM_001251874,NM_030568 KHDC1,KHDC1 EXON Missense_G229D,Missense_G156D exm560452 6 73951389 [T/C] NM_001251874,NM_030568 KHDC1,KHDC1 EXON Missense_I193V,Missense_I120V exm560454 6 73951407 [T/C] NM_001251874,NM_030568 KHDC1,KHDC1 EXON Missense_D187N,Missense_D114N exm560459 6 73951780 [T/C] NM_001251874,NM_030568 KHDC1,KHDC1 EXON Missense_R171Q,Missense_R98Q exm560460 6 73951808 [T/C] NM_001251874,NM_030568 KHDC1,KHDC1 EXON Missense_G162R,Missense_G89R exm560461 6 73951823 [T/C] NM_001251874,NM_030568 KHDC1,KHDC1 EXON Missense_M157V,Missense_M84V exm560481 6 73952209 [T/C] NM_001251874,NM_030568 KHDC1,KHDC1 EXON Missense_K84R,Missense_K11R exm560503 6 74072466 [A/G] NM_001017361 KHDC3L EXON Missense_R5K exm560514 6 74072893 [A/T] NM_001017361 KHDC3L EXON Missense_N82I exm560516 6 74072937 [G/C] NM_001017361 KHDC3L EXON Missense_E97Q exm560529 6 74073453 [A/G] NM_001017361 KHDC3L EXON Missense_Q175R exm560536 6 74073531 [G/C] NM_001017361 KHDC3L EXON Missense_A201G exm560538 6 74073575 [A/G] NM_001017361 KHDC3L EXON Missense_R216G exm560540 6 74078572 [A/G] NM_001080507 OOEP EXON Missense_H129Y exm560542 6 74078985 [T/C] NM_001080507 OOEP EXON Missense_R105Q exm560545 6 74079024 [A/G] NM_001080507 OOEP EXON Missense_V92A exm560547 6 74079045 [A/C] NM_001080507 OOEP EXON Missense_I85R exm560549 6 74079072 [A/G] NM_001080507 OOEP EXON Missense_T76M exm560566 6 74079494 [T/C] NM_001080507 OOEP EXON Missense_A8T exm2275288 6 74104285 [A/C] NM_018665 DDX43 EXON Silent exm560573 6 74104645 [A/G] NM_018665 DDX43 EXON Missense_G6E exm560575 6 74104687 [A/G] NM_018665 DDX43 EXON Missense_S20N exm2130542 6 74104701 [G/C] NM_018665 DDX43 EXON Missense_R25G exm560582 6 74104789 [T/C] NM_018665 DDX43 EXON Missense_T54I exm560585 6 74104807 [G/C] NM_018665 DDX43 EXON Missense_A60G exm560589 6 74107437 [T/A] NM_018665 DDX43 EXON Missense_N92K exm560604 6 74115413 [T/A] NM_018665 DDX43 EXON Missense_F221Y exm560609 6 74115451 [T/C] NM_018665 DDX43 EXON Nonsense_R234X exm560618 6 74117242 [A/G] NM_018665 DDX43 EXON Missense_R314K exm560644 6 74123695 [T/C] NM_018665 DDX43 EXON Missense_A500V exm560665 6 74125875 [A/G] NM_018665 DDX43 EXON Missense_K625E exm560666 6 74125888 [A/G] NM_018665 DDX43 EXON Missense_Q629R exm560675 6 74135071 [A/T] NM_138441 MB21D1 EXON Missense_Y483F exm560679 6 74135164 [T/A] NM_138441 MB21D1 EXON Missense_D452V exm560681 6 74135209 [T/C] NM_138441 MB21D1 EXON Missense_H437R exm560683 6 74135220 [T/G] NM_138441 MB21D1 EXON Missense_F433L exm560684 6 74135255 [T/C] NM_138441 MB21D1 EXON Missense_E422K exm560698 6 74150007 [T/C] NM_138441 MB21D1 EXON Missense_K347E exm560708 6 74155346 [T/G] NM_138441 MB21D1 EXON Missense_P261H exm560709 6 74155358 [A/G] NM_138441 MB21D1 EXON Missense_P257L exm560711 6 74155412 [A/G] NM_138441 MB21D1 EXON Missense_L239P exm560716 6 74161405 [A/G] NM_138441 MB21D1 EXON Missense_A167V exm560717 6 74161406 [C/G] NM_138441 MB21D1 EXON Missense_A167P exm560727 6 74161664 [T/C] NM_138441 MB21D1 EXON Missense_A81T exm560738 6 74161801 [T/G] NM_138441 MB21D1 EXON Missense_T35N exm560753 6 74171753 [G/C] NM_012123,NM_001123226,NM_133645 MTO1,MTO1,MTO1 EXON Missense_G59A,Missense_G59A,Missense_G59A exm560760 6 74176061 [A/G] NM_012123,NM_001123226,NM_133645 MTO1,MTO1,MTO1 EXON Missense_R116Q,Missense_R116Q,Missense_R116Q exm560772 6 74183186 [T/C] NM_012123,NM_001123226,NM_133645 MTO1,MTO1,MTO1 EXON Missense_R212C,Missense_R212C,Missense_R212C exm560781 6 74189551 [A/G] NM_012123,NM_001123226,NM_133645 MTO1,MTO1,MTO1 EXON Missense_T308A,Missense_T308A,Missense_T308A exm560784 6 74189681 [A/G] NM_012123,NM_001123226,NM_133645 MTO1,MTO1,MTO1 EXON Missense_K321E,Missense_K321E,Missense_K321E exm560785 6 74189703 [A/G] NM_012123,NM_001123226,NM_133645 MTO1,MTO1,MTO1 EXON Missense_R328H,Missense_R328H,Missense_R328H exm560788 6 74189771 [A/G] NM_012123,NM_001123226,NM_133645 MTO1,MTO1,MTO1 EXON Missense_M351V,Missense_M351V,Missense_M351V exm560790 6 74189806 [C/G] NM_012123,NM_001123226,NM_133645 MTO1,MTO1,MTO1 EXON Missense_I362M,Missense_I362M,Missense_I362M exm560797 6 74190490 [A/G] NM_012123,NM_001123226,NM_133645 MTO1,MTO1,MTO1 EXON Missense_I408V,Missense_I408V,Missense_I433V exm560801 6 74191784 [A/G] NM_012123,NM_001123226,NM_133645 MTO1,MTO1,MTO1 EXON Missense_A428T,Missense_A468T,Missense_A453T exm2130632 6 74191826 [T/C] NM_012123,NM_001123226,NM_133645 MTO1,MTO1,MTO1 EXON Nonsense_R442X,Nonsense_R482X,Nonsense_R467X exm560811 6 74191932 [A/G] NM_012123,NM_001123226,NM_133645 MTO1,MTO1,MTO1 EXON Missense_R477H,Missense_R517H,Missense_R502H exm560818 6 74192186 [A/G] NM_012123,NM_001123226,NM_133645 MTO1,MTO1,MTO1 EXON Missense_G494S,Missense_G534S,Missense_G519S exm560821 6 74192255 [A/G] NM_012123,NM_001123226,NM_133645 MTO1,MTO1,MTO1 EXON Missense_V517M,Missense_V557M,Missense_V542M exm560832 6 74210319 [T/C] NM_012123,NM_001123226,NM_133645 MTO1,MTO1,MTO1 EXON Missense_P647L,Missense_P687L,Missense_P672L exm560834 6 74210375 [T/C] NM_012123,NM_001123226,NM_133645 MTO1,MTO1,MTO1 EXON Nonsense_R666X,Nonsense_R706X,Nonsense_R691X exm560846 6 74227973 [T/G] NM_001402 EEF1A1 EXON Missense_N348K exm2257918 6 74229642 [T/C] NM_001402 EEF1A1 EXON Synonymous_K36K exm2266213 6 74238815 [A/G] exm560879 6 74304856 [T/C] NM_012434 SLC17A5 EXON Missense_A478T exm560887 6 74310129 [A/G] NM_012434 SLC17A5 EXON Missense_F432S exm560893 6 74320205 [T/C] NM_012434 SLC17A5 EXON Missense_V393I exm560896 6 74320264 [A/G] NM_012434 SLC17A5 EXON Missense_I373T exm560906 6 74331606 [A/G] NM_012434 SLC17A5 EXON Missense_S300F exm560907 6 74331619 [T/C] NM_012434 SLC17A5 EXON Missense_V296I exm560921 6 74346384 [A/C] NM_012434 SLC17A5 EXON Missense_I220M exm560924 6 74348195 [T/C] NM_012434 SLC17A5 EXON Missense_M185V exm560939 6 74354306 [A/G] NM_012434 SLC17A5 EXON Missense_R39C exm560951 6 74407128 [A/G] NM_001159587,NM_001159588,NM_133493 CD109,CD109,CD109 EXON Missense_R27Q,Missense_R27Q,Missense_R27Q exm560954 6 74407182 [T/G] NM_001159587,NM_001159588,NM_133493 CD109,CD109,CD109 EXON Missense_G45V,Missense_G45V,Missense_G45V exm560957 6 74407297 [T/C] NM_001159587,NM_001159588,NM_133493 CD109,CD109,CD109 Silent,Silent,Silent exm560966 6 74440104 [A/G] NM_001159587,NM_001159588,NM_133493 CD109,CD109,CD109 EXON Missense_R105H,Silent,Missense_R105H exm560969 6 74440124 [A/G] NM_001159587,NM_001159588,NM_133493 CD109,CD109,CD109 EXON Missense_D112N,Silent,Missense_D112N exm560975 6 74440244 [A/G] NM_001159587,NM_001159588,NM_133493 CD109,CD109,CD109 EXON Missense_T152A,Silent,Missense_T152A exm560976 6 74440272 [A/C] NM_001159587,NM_001159588,NM_133493 CD109,CD109,CD109 EXON Missense_K161T,Silent,Missense_K161T exm560978 6 74446130 [T/C] NM_001159587,NM_001159588,NM_133493 CD109,CD109,CD109 EXON Nonsense_Q178X,Nonsense_Q101X,Nonsense_Q178X exm560981 6 74446214 [A/G] NM_001159587,NM_001159588,NM_133493 CD109,CD109,CD109 EXON Missense_I206V,Missense_I129V,Missense_I206V exm560997 6 74468745 [T/C] NM_001159587,NM_001159588,NM_133493 CD109,CD109,CD109 EXON Missense_T251M,Missense_T174M,Missense_T251M exm561005 6 74473314 [T/C] NM_001159587,NM_001159588,NM_133493 CD109,CD109,CD109 EXON Missense_V338A,Missense_V261A,Missense_V338A exm561006 6 74473330 [A/C] NM_001159587,NM_001159588,NM_133493 CD109,CD109,CD109 EXON Missense_F343L,Missense_F266L,Missense_F343L exm561010 6 74473400 [A/C] NM_001159587,NM_001159588,NM_133493 CD109,CD109,CD109 EXON Missense_T367P,Missense_T290P,Missense_T367P exm561014 6 74475675 [A/G] NM_001159587,NM_001159588,NM_133493 CD109,CD109,CD109 EXON Missense_G377D,Missense_G300D,Missense_G377D exm561016 6 74475690 [T/C] NM_001159587,NM_001159588,NM_133493 CD109,CD109,CD109 EXON Missense_L382P,Missense_L305P,Missense_L382P exm561017 6 74475716 [A/G] NM_001159587,NM_001159588,NM_133493 CD109,CD109,CD109 EXON Missense_I391V,Missense_I314V,Missense_I391V exm561020 6 74475781 [T/G] NM_001159587,NM_001159588,NM_133493 CD109,CD109,CD109 EXON Missense_M412I,Missense_M335I,Missense_M412I exm561021 6 74475791 [C/G] NM_001159587,NM_001159588,NM_133493 CD109,CD109,CD109 EXON Missense_Q416E,Missense_Q339E,Missense_Q416E exm561022 6 74475803 [T/C] NM_001159587,NM_001159588,NM_133493 CD109,CD109,CD109 EXON Missense_Y420H,Missense_Y343H,Missense_Y420H exm561027 6 74476678 [T/C] NM_001159587,NM_001159588,NM_133493 CD109,CD109,CD109 EXON Missense_S481L,Missense_S404L,Missense_S481L exm561029 6 74476701 [A/G] NM_001159587,NM_001159588,NM_133493 CD109,CD109,CD109 EXON Missense_G489S,Missense_G412S,Missense_G489S exm561040 6 74481186 [T/C] NM_001159587,NM_001159588,NM_133493 CD109,CD109,CD109 EXON Missense_P570L,Missense_P493L,Missense_P570L exm561042 6 74481204 [T/C] NM_001159587,NM_001159588,NM_133493 CD109,CD109,CD109 EXON Missense_L576P,Missense_L499P,Missense_L576P exm561045 6 74481225 [T/C] NM_001159587,NM_001159588,NM_133493 CD109,CD109,CD109 EXON Missense_P583L,Missense_P506L,Missense_P583L exm561051 6 74491002 [T/G] NM_001159587,NM_001159588,NM_133493 CD109,CD109,CD109 EXON Missense_L641F,Missense_L564F,Missense_L641F exm561060 6 74493432 [A/C] NM_001159587,NM_001159588,NM_133493 CD109,CD109,CD109 EXON Missense_Y703S,Missense_Y626S,Missense_Y703S exm561063 6 74493494 [T/G] NM_001159587,NM_001159588,NM_133493 CD109,CD109,CD109 EXON Missense_G724C,Missense_G647C,Missense_G724C exm561064 6 74493518 [G/C] NM_001159587,NM_001159588,NM_133493 CD109,CD109,CD109 EXON Missense_G732R,Missense_G655R,Missense_G732R exm561065 6 74493537 [T/C] NM_001159587,NM_001159588,NM_133493 CD109,CD109,CD109 EXON Missense_T738I,Missense_T661I,Missense_T738I exm561071 6 74495175 [T/C] NM_001159587,NM_001159588,NM_133493 CD109,CD109,CD109 EXON Missense_F771S,Missense_F694S,Missense_F771S exm561073 6 74495187 [A/C] NM_001159587,NM_001159588,NM_133493 CD109,CD109,CD109 EXON Missense_K775T,Missense_K698T,Missense_K775T exm561075 6 74496984 [A/G] NM_001159587,NM_001159588,NM_133493 CD109,CD109,CD109 EXON Missense_K789E,Missense_K712E,Missense_K789E exm561076 6 74496994 [T/G] NM_001159587,NM_001159588,NM_133493 CD109,CD109,CD109 EXON Missense_I792S,Missense_I715S,Missense_I792S exm561077 6 74497005 [T/G] NM_001159587,NM_001159588,NM_133493 CD109,CD109,CD109 EXON Missense_S796A,Missense_S719A,Missense_S796A exm561078 6 74497009 [A/G] NM_001159587,NM_001159588,NM_133493 CD109,CD109,CD109 EXON Missense_N797S,Missense_N720S,Missense_N797S exm561079 6 74497021 [T/C] NM_001159587,NM_001159588,NM_133493 CD109,CD109,CD109 EXON Missense_A801V,Missense_A724V,Missense_A801V exm561080 6 74497102 [A/G] NM_001159587,NM_001159588,NM_133493 CD109,CD109,CD109 EXON Missense_G828E,Missense_G751E,Missense_G828E exm561083 6 74497126 [T/C] NM_001159587,NM_001159588,NM_133493 CD109,CD109,CD109 EXON Missense_A836V,Missense_A759V,Missense_A836V exm561085 6 74498191 [C/G] NM_001159587,NM_001159588,NM_133493 CD109,CD109,CD109 EXON Missense_A853P,Missense_A776P,Missense_A853P exm2130757 6 74502394 [A/G] NM_001159587,NM_001159588,NM_133493 CD109,CD109,CD109 EXON Missense_R916Q,Missense_R839Q,Missense_R916Q exm561092 6 74512961 [T/C] NM_001159587,NM_001159588,NM_133493 CD109,CD109,CD109 EXON Missense_L966P,Missense_L889P,Missense_L966P exm2275895 6 74512979 [A/G] NM_001159587,NM_001159588,NM_133493 CD109,CD109,CD109 EXON Missense_G972D,Missense_G895D,Missense_G972D exm561097 6 74516631 [A/G] NM_001159587,NM_001159588,NM_133493 CD109,CD109,CD109 EXON Missense_V1009M,Missense_V932M,Missense_V1009M exm561100 6 74516649 [A/T] NM_001159587,NM_001159588,NM_133493 CD109,CD109,CD109 EXON Missense_T1015S,Missense_T938S,Missense_T1015S exm561106 6 74516758 [T/A] NM_001159587,NM_001159588,NM_133493 CD109,CD109,CD109 EXON Missense_Y1051F,Missense_Y974F,Missense_Y1051F exm561107 6 74516767 [C/G] NM_001159587,NM_001159588,NM_133493 CD109,CD109,CD109 EXON Missense_T1054S,Missense_T977S,Missense_T1054S exm561120 6 74519740 [A/G] NM_001159587,NM_001159588,NM_133493 CD109,CD109,CD109 EXON Missense_K1130R,Missense_K1053R,Missense_K1130R exm561123 6 74519877 [A/G] NM_001159587,NM_001159588,NM_133493 CD109,CD109,CD109 EXON Missense_G1176S,Missense_G1099S,Missense_G1176S exm561126 6 74520733 [A/G] NM_001159587,NM_001159588,NM_133493 CD109,CD109,CD109 EXON Missense_K1189E,Missense_K1112E,Missense_K1189E exm561127 6 74520752 [T/C] NM_001159587,NM_001159588,NM_133493 CD109,CD109,CD109 EXON Missense_A1195V,Missense_A1118V,Missense_A1195V exm561130 6 74520863 [T/C] NM_001159587,NM_001159588,NM_133493 CD109,CD109,CD109 EXON Silent,Missense_T1155I,Missense_T1232I exm561134 6 74521947 [T/C] NM_001159587,NM_001159588,NM_133493 CD109,CD109,CD109 EXON Missense_T1224M,Missense_T1164M,Missense_T1241M exm2130773 6 74524749 [T/C] NM_001159587,NM_001159588,NM_133493 CD109,CD109,CD109 EXON Nonsense_R1255X,Nonsense_R1195X,Nonsense_R1272X exm561150 6 74528122 [T/C] NM_001159587,NM_001159588,NM_133493 CD109,CD109,CD109 EXON Missense_P1291L,Missense_P1231L,Missense_P1308L exm561151 6 74528127 [A/G] NM_001159587,NM_001159588,NM_133493 CD109,CD109,CD109 EXON Missense_R1293G,Missense_R1233G,Missense_R1310G exm561162 6 74533180 [A/G] NM_001159587,NM_001159588,NM_133493 CD109,CD109,CD109 Silent,Silent,Silent exm561163 6 74533191 [T/C] NM_001159587,NM_001159588,NM_133493 CD109,CD109,CD109 EXON Missense_A1374V,Missense_A1314V,Missense_A1391V exm561166 6 74533259 [T/C] NM_001159587,NM_001159588,NM_133493 CD109,CD109,CD109 EXON Missense_R1397C,Missense_R1337C,Missense_R1414C exm2266214 6 74605806 [A/G] exm2266315 6 75056542 [A/G] exm2264174 6 75479295 [A/C] exm2266316 6 75642415 [A/G] exm561173 6 75797302 [T/C] NM_080645,NM_004370 COL12A1,COL12A1 EXON Missense_G1894S,Missense_G3058S exm561178 6 75797391 [T/C] NM_080645,NM_004370 COL12A1,COL12A1 EXON Missense_R1864H,Missense_R3028H exm561180 6 75797410 [A/G] NM_080645,NM_004370 COL12A1,COL12A1 EXON Missense_P1858S,Missense_P3022S exm561185 6 75798852 [A/G] NM_080645,NM_004370 COL12A1,COL12A1 EXON Missense_S1830P,Missense_S2994P exm561196 6 75799936 [A/G] NM_080645,NM_004370 COL12A1,COL12A1 EXON Missense_P1780L,Missense_P2944L exm561203 6 75804834 [T/C] NM_080645,NM_004370 COL12A1,COL12A1 EXON Missense_H1716R,Missense_H2880R exm561210 6 75811338 [C/G] NM_080645,NM_004370 COL12A1,COL12A1 EXON Missense_P1670R,Missense_P2834R exm561216 6 75812323 [A/G] NM_080645,NM_004370 COL12A1,COL12A1 EXON Missense_P1638L,Missense_P2802L exm561217 6 75812392 [T/C] NM_080645,NM_004370 COL12A1,COL12A1 EXON Missense_R1615H,Missense_R2779H exm561222 6 75814950 [A/G] NM_080645,NM_004370 COL12A1,COL12A1 EXON Missense_V1582A,Missense_V2746A exm561224 6 75815002 [T/C] NM_080645,NM_004370 COL12A1,COL12A1 EXON Missense_E1565K,Missense_E2729K exm561226 6 75818844 [T/C] NM_080645,NM_004370 COL12A1,COL12A1 EXON Missense_I1500V,Missense_I2664V exm561230 6 75822972 [A/G] NM_080645,NM_004370 COL12A1,COL12A1 EXON Missense_V1469A,Missense_V2633A exm561231 6 75822985 [T/C] NM_080645,NM_004370 COL12A1,COL12A1 EXON Missense_E1465K,Missense_E2629K exm561233 6 75823017 [A/G] NM_080645,NM_004370 COL12A1,COL12A1 EXON Missense_T1454M,Missense_T2618M exm561234 6 75823372 [T/C] NM_080645,NM_004370 COL12A1,COL12A1 EXON Missense_I1432V,Missense_I2596V exm561236 6 75825507 [A/G] NM_080645,NM_004370 COL12A1,COL12A1 EXON Missense_P1400S,Missense_P2564S exm561242 6 75825752 [T/C] NM_080645,NM_004370 COL12A1,COL12A1 EXON Missense_D1350G,Missense_D2514G exm561254 6 75828890 [A/G] NM_080645,NM_004370 COL12A1,COL12A1 EXON Missense_T1244M,Missense_T2408M exm561262 6 75833070 [G/C] NM_080645,NM_004370 COL12A1,COL12A1 EXON Missense_P1144A,Missense_P2308A exm561268 6 75833687 [T/C] NM_080645,NM_004370 COL12A1,COL12A1 EXON Missense_G1119E,Missense_G2283E exm561270 6 75833783 [T/C] NM_080645,NM_004370 COL12A1,COL12A1 EXON Missense_R1087H,Missense_R2251H exm561275 6 75834860 [A/G] NM_080645,NM_004370 COL12A1,COL12A1 EXON Missense_T1033I,Missense_T2197I exm561279 6 75834971 [A/T] NM_080645,NM_004370 COL12A1,COL12A1 EXON Missense_E996V,Missense_E2160V exm561281 6 75836079 [A/G] NM_080645,NM_004370 COL12A1,COL12A1 EXON Missense_Y986H,Missense_Y2150H exm2130904 6 75838071 [T/G] NM_080645,NM_004370 COL12A1,COL12A1 EXON Missense_T930N,Missense_T2094N exm561293 6 75840573 [T/C] NM_080645,NM_004370 COL12A1,COL12A1 EXON Missense_R857Q,Missense_R2021Q exm561309 6 75843010 [T/C] NM_080645,NM_004370 COL12A1,COL12A1 EXON Synonymous_T767T,Synonymous_T1931T exm561316 6 75843603 [T/C] NM_080645,NM_004370 COL12A1,COL12A1 EXON Missense_A715T,Missense_A1879T exm561319 6 75843653 [A/G] NM_080645,NM_004370 COL12A1,COL12A1 EXON Missense_V698A,Missense_V1862A exm561324 6 75844459 [A/G] NM_080645,NM_004370 COL12A1,COL12A1 EXON Missense_T672M,Missense_T1836M exm561326 6 75844465 [T/C] NM_080645,NM_004370 COL12A1,COL12A1 EXON Missense_R670Q,Missense_R1834Q exm561328 6 75844499 [T/C] NM_080645,NM_004370 COL12A1,COL12A1 EXON Missense_V659I,Missense_V1823I exm561330 6 75844555 [T/C] NM_080645,NM_004370 COL12A1,COL12A1 EXON Missense_R640Q,Missense_R1804Q exm561331 6 75844564 [A/G] NM_080645,NM_004370 COL12A1,COL12A1 EXON Missense_I637T,Missense_I1801T exm561342 6 75848169 [T/C] NM_080645,NM_004370 COL12A1,COL12A1 EXON Missense_R578H,Missense_R1742H exm561344 6 75848173 [T/C] NM_080645,NM_004370 COL12A1,COL12A1 EXON Missense_E577K,Missense_E1741K exm561345 6 75848181 [A/G] NM_080645,NM_004370 COL12A1,COL12A1 EXON Missense_I574T,Missense_I1738T exm561350 6 75848268 [A/G] NM_080645,NM_004370 COL12A1,COL12A1 EXON Missense_L545S,Missense_L1709S exm561353 6 75848630 [G/C] NM_080645,NM_004370 COL12A1,COL12A1 EXON Missense_E505Q,Missense_E1669Q exm561360 6 75851829 [A/C] NM_080645,NM_004370 COL12A1,COL12A1 EXON Missense_S462A,Missense_S1626A exm561364 6 75852997 [A/G] NM_080645,NM_004370 COL12A1,COL12A1 EXON Missense_Y436H,Missense_Y1600H exm561368 6 75853051 [T/G] NM_080645,NM_004370 COL12A1,COL12A1 EXON Missense_M418L,Missense_M1582L exm561399 6 75861631 [T/C] NM_080645,NM_004370 COL12A1,COL12A1 EXON Missense_A154T,Missense_A1318T exm561401 6 75861684 [A/G] NM_080645,NM_004370 COL12A1,COL12A1 EXON Missense_A136V,Missense_A1300V exm2130967 6 75862112 [T/C] NM_080645,NM_004370 COL12A1,COL12A1 EXON Missense_V54M,Missense_V1218M exm561428 6 75866021 [T/C] NM_080645,NM_004370 COL12A1,COL12A1 EXON Silent,Missense_I1068V exm561438 6 75875241 [T/C] NM_080645,NM_004370 COL12A1,COL12A1 EXON Silent,Missense_G989R exm561453 6 75875460 [T/C] NM_080645,NM_004370 COL12A1,COL12A1 EXON Silent,Missense_I916V exm561464 6 75884895 [C/G] NM_080645,NM_004370 COL12A1,COL12A1 EXON Silent,Missense_Q857E exm561468 6 75884968 [T/A] NM_080645,NM_004370 COL12A1,COL12A1 EXON Silent,Missense_L832F exm2130985 6 75884984 [A/G] NM_080645,NM_004370 COL12A1,COL12A1 EXON Silent,Missense_T827M exm561476 6 75887459 [A/G] NM_080645,NM_004370 COL12A1,COL12A1 EXON Silent,Missense_T786M exm561477 6 75887493 [T/C] NM_080645,NM_004370 COL12A1,COL12A1 EXON Silent,Missense_R775G exm561478 6 75887541 [A/G] NM_080645,NM_004370 COL12A1,COL12A1 EXON Silent,Missense_P759S exm561492 6 75890813 [A/G] NM_080645,NM_004370 COL12A1,COL12A1 EXON Silent,Missense_A669V exm561493 6 75890922 [A/C] NM_080645,NM_004370 COL12A1,COL12A1 EXON Silent,Missense_V633F exm561506 6 75893140 [C/G] NM_080645,NM_004370 COL12A1,COL12A1 EXON Silent,Missense_A506G exm561518 6 75893672 [T/C] NM_080645,NM_004370 COL12A1,COL12A1 EXON Silent,Missense_A396T exm561526 6 75893766 [T/G] NM_080645,NM_004370 COL12A1,COL12A1 EXON Silent,Nonsense_Y364X exm561530 6 75898153 [A/T] NM_080645,NM_004370 COL12A1,COL12A1 EXON Silent,Missense_I308F exm561534 6 75899013 [A/G] NM_080645,NM_004370 COL12A1,COL12A1 EXON Silent,Missense_I248T exm561536 6 75899061 [A/G] NM_080645,NM_004370 COL12A1,COL12A1 EXON Silent,Missense_T232M exm561537 6 75899300 [T/G] NM_080645,NM_004370 COL12A1,COL12A1 EXON Silent,Missense_K209T exm561546 6 75899516 [A/G] NM_080645,NM_004370 COL12A1,COL12A1 EXON Silent,Missense_A137V exm2244428 6 75947671 [A/G] NR_029466,NM_001865 COX7A2,COX7A2 EXON Silent,Missense_A108V exm2131023 6 75953441 [A/T] NR_029466,NM_001865 COX7A2,COX7A2 EXON Silent,Missense_N36Y exm561584 6 75953497 [T/G] NR_029466,NM_001865 COX7A2,COX7A2 EXON Silent,Nonsense_S17X exm2257926 6 75969187 [A/G] NM_001143958,NM_018247 TMEM30A,TMEM30A EXON Synonymous_L151L,Synonymous_L187L exm561618 6 75994198 [T/C] NM_001143958,NM_018247 TMEM30A,TMEM30A EXON Missense_I53V,Missense_I53V exm2275896 6 76018420 [A/C] NM_015687 FILIP1 EXON Missense_G1210V exm561637 6 76018573 [T/C] NM_015687 FILIP1 EXON Missense_R1159H exm561642 6 76022171 [A/G] NM_015687 FILIP1 EXON Missense_T1126M exm561644 6 76022192 [T/C] NM_015687 FILIP1 EXON Missense_R1119Q exm561645 6 76022193 [A/G] NM_015687 FILIP1 EXON Missense_R1119W exm561650 6 76022319 [A/G] NM_015687 FILIP1 EXON Missense_R1077W exm561652 6 76022448 [A/G] NM_015687 FILIP1 EXON Missense_R1034W exm561657 6 76022541 [A/G] NM_015687 FILIP1 EXON Missense_P1003S exm561666 6 76022769 [T/C] NM_015687 FILIP1 EXON Missense_I927V exm561678 6 76023146 [A/G] NM_015687 FILIP1 EXON Missense_T801M exm2131067 6 76023307 [A/C] NM_015687 FILIP1 EXON Missense_D747E exm2131070 6 76023825 [A/T] NM_015687 FILIP1 EXON Missense_L575M exm561708 6 76024065 [T/C] NM_015687 FILIP1 EXON Missense_K495E exm561710 6 76024124 [T/C] NM_015687 FILIP1 EXON Missense_S475N exm561712 6 76024220 [T/C] NM_015687 FILIP1 EXON Missense_S443N exm561714 6 76024242 [G/C] NM_015687 FILIP1 EXON Missense_E436Q exm561721 6 76024419 [T/C] NM_015687 FILIP1 EXON Missense_M377V exm561733 6 76024704 [A/G] NM_015687 FILIP1 EXON Missense_L282F exm561742 6 76024853 [T/C] NM_015687 FILIP1 EXON Missense_R232Q exm561743 6 76024856 [T/C] NM_015687 FILIP1 EXON Missense_K231R exm561749 6 76063301 [T/G] NM_015687 FILIP1 EXON Missense_N195H exm2131084 6 76063329 [A/G] NM_015687 FILIP1 EXON Synonymous_N185N exm561754 6 76063393 [T/C] NM_015687 FILIP1 EXON Missense_R164H exm561765 6 76124523 [T/C] NM_015687 FILIP1 EXON Missense_K56E exm561766 6 76124558 [T/C] NM_015687 FILIP1 EXON Missense_R44K exm561771 6 76124678 [T/C] NM_015687 FILIP1 EXON Missense_R4Q exm-rs6903448 6 76173832 [T/C] NM_015687 FILIP1 Silent exm2257927 6 76174857 [A/G] NM_015687 FILIP1 Silent exm-rs9360921 6 76265642 [T/G] exm561778 6 76331308 [A/G] NM_001100409,NM_015571 SENP6,SENP6 EXON Missense_H38R,Missense_H38R exm561784 6 76343315 [A/G] NM_001100409,NM_015571 SENP6,SENP6 EXON Missense_I76V,Missense_I76V exm561787 6 76343357 [A/G] NM_001100409,NM_015571 SENP6,SENP6 EXON Missense_V90I,Missense_V90I exm561792 6 76343405 [A/G] NM_001100409,NM_015571 SENP6,SENP6 EXON Missense_I106V,Missense_I106V exm561794 6 76344431 [T/C] NM_001100409,NM_015571 SENP6,SENP6 EXON Missense_T121M,Missense_T121M exm561797 6 76344490 [A/C] NM_001100409,NM_015571 SENP6,SENP6 EXON Missense_H141N,Missense_H141N exm561813 6 76369044 [A/G] NM_001100409,NM_015571 SENP6,SENP6 EXON Missense_Q199R,Missense_Q206R exm561817 6 76369068 [A/G] NM_001100409,NM_015571 SENP6,SENP6 EXON Missense_Y207C,Missense_Y214C exm561818 6 76369083 [G/C] NM_001100409,NM_015571 SENP6,SENP6 EXON Missense_P212R,Missense_P219R exm561832 6 76373207 [A/C] NM_001100409,NM_015571 SENP6,SENP6 EXON Missense_T316P,Missense_T323P exm561835 6 76376551 [T/C] NM_001100409,NM_015571 SENP6,SENP6 EXON Missense_A366V,Missense_A373V exm561838 6 76380342 [T/C] NM_001100409,NM_015571 SENP6,SENP6 EXON Missense_A426V,Missense_A433V exm2131119 6 76380398 [A/G] NM_001100409,NM_015571 SENP6,SENP6 EXON Missense_V445I,Missense_V452I exm561841 6 76385170 [A/G] NM_001100409,NM_015571 SENP6,SENP6 EXON Missense_K464R,Missense_K471R exm561850 6 76386828 [A/T] NM_001100409,NM_015571 SENP6,SENP6 EXON Missense_N561K,Missense_N568K exm2244435 6 76388324 [T/C] NM_001100409,NM_015571 SENP6,SENP6 EXON Missense_L618P,Missense_L625P exm561861 6 76388558 [A/G] NM_001100409,NM_015571 SENP6,SENP6 EXON Missense_G657R,Missense_G664R exm561870 6 76412455 [A/G] NM_001100409,NM_015571 SENP6,SENP6 EXON Missense_K788E,Missense_K795E exm561872 6 76412531 [T/C] NM_001100409,NM_015571 SENP6,SENP6 EXON Missense_A813V,Missense_A820V exm561873 6 76412588 [T/C] NM_001100409,NM_015571 SENP6,SENP6 EXON Missense_S832F,Missense_S839F exm561877 6 76412698 [A/G] NM_001100409,NM_015571 SENP6,SENP6 EXON Missense_K869E,Missense_K876E exm561879 6 76412746 [T/A] NM_001100409,NM_015571 SENP6,SENP6 EXON Missense_N885Y,Missense_N892Y exm561883 6 76412776 [A/G] NM_001100409,NM_015571 SENP6,SENP6 EXON Missense_T895A,Missense_T902A exm561884 6 76419261 [C/G] NM_001100409,NM_015571 SENP6,SENP6 EXON Missense_R905T,Missense_R912T exm561894 6 76425186 [A/G] NM_001100409,NM_015571 SENP6,SENP6 EXON Missense_R1065Q,Missense_R1072Q exm2273422 6 76425594 [A/C] NM_001100409,NM_015571 SENP6,SENP6 EXON Silent,Silent exm561902 6 76527290 [T/C] NM_004999 MYO6 EXON Missense_A9V exm561905 6 76527316 [A/G] NM_004999 MYO6 EXON Missense_M18V exm561907 6 76527356 [T/C] NM_004999 MYO6 EXON Missense_I31T exm561926 6 76554672 [T/C] NM_004999 MYO6 EXON Missense_L292S exm561927 6 76554683 [A/G] NM_004999 MYO6 EXON Missense_K296E exm-rs3798440 6 76556619 [T/C] NM_004999 MYO6 Silent exm561931 6 76558195 [T/C] NM_004999 MYO6 EXON Missense_A342V exm561933 6 76558200 [A/G] NM_004999 MYO6 EXON Missense_V344I exm561934 6 76564897 [T/C] NM_004999 MYO6 EXON Missense_Y374H exm561935 6 76564921 [A/G] NM_004999 MYO6 EXON Missense_D382N exm561971 6 76595810 [T/C] NM_004999 MYO6 EXON Missense_R836C exm561974 6 76596587 [T/C] NM_004999 MYO6 EXON Missense_T845I exm561979 6 76596688 [A/G] NM_004999 MYO6 EXON Missense_D879N exm561982 6 76599787 [T/C] NM_004999 MYO6 EXON Missense_T891M exm561987 6 76599933 [T/C] NM_004999 MYO6 EXON Missense_R940C exm561989 6 76599951 [T/C] NM_004999 MYO6 EXON Missense_R946C exm562026 6 76621416 [A/G] NM_004999 MYO6 Silent exm562029 6 76623854 [T/C] NM_004999 MYO6 EXON Missense_R1172C exm562030 6 76623869 [T/C] NM_004999 MYO6 EXON Missense_R1177C exm562031 6 76623870 [A/G] NM_004999 MYO6 EXON Missense_R1177H exm562034 6 76623903 [A/G] NM_004999 MYO6 EXON Missense_K1188R exm562039 6 76624538 [A/G] NM_004999 MYO6 EXON Missense_D1223N exm562041 6 76624575 [T/G] NM_004999 MYO6 EXON Missense_G1235V exm562046 6 76624695 [A/G] NM_004999 MYO6 EXON Missense_Y1275C exm2262171 6 76628176 [A/C] NM_004999 MYO6 EXON Silent exm562052 6 76631823 [T/C] NM_001563 IMPG1 EXON Missense_D793N exm562056 6 76640695 [A/G] NM_001563 IMPG1 EXON Missense_L740F exm2131215 6 76640730 [A/C] NM_001563 IMPG1 EXON Missense_G728V exm562060 6 76640781 [T/C] NM_001563 IMPG1 EXON Missense_R711H exm562061 6 76640787 [T/C] NM_001563 IMPG1 EXON Missense_E709G exm562064 6 76640803 [A/G] NM_001563 IMPG1 EXON Missense_R704W exm562075 6 76657130 [A/G] NM_001563 IMPG1 EXON Missense_L649F exm562087 6 76660365 [A/G] NM_001563 IMPG1 EXON Missense_R580C exm562089 6 76660397 [T/C] NM_001563 IMPG1 EXON Missense_K569R exm562093 6 76660551 [G/C] NM_001563 IMPG1 EXON Missense_H518D exm562099 6 76660715 [A/C] NM_001563 IMPG1 EXON Missense_G463V exm562103 6 76660786 [T/C] NM_001563 IMPG1 EXON Missense_M439I exm2270343 6 76682252 [T/C] NM_001563 IMPG1 Silent exm562107 6 76712655 [T/C] NM_001563 IMPG1 EXON Missense_G424E exm562111 6 76712691 [A/G] NM_001563 IMPG1 EXON Missense_L412P exm562113 6 76713589 [A/G] NM_001563 IMPG1 Silent exm2244442 6 76713634 [T/C] NM_001563 IMPG1 EXON Missense_D390G exm562115 6 76713646 [T/G] NM_001563 IMPG1 EXON Missense_A386D exm2131233 6 76715039 [T/C] NM_001563 IMPG1 EXON Missense_Q367R exm562118 6 76715093 [T/C] NM_001563 IMPG1 EXON Missense_Y349C exm562119 6 76715123 [T/G] NM_001563 IMPG1 EXON Missense_T339N exm562122 6 76715175 [A/G] NM_001563 IMPG1 EXON Missense_L322F exm562135 6 76728488 [T/C] NM_001563 IMPG1 EXON Missense_A252T exm562141 6 76728524 [T/C] NM_001563 IMPG1 EXON Missense_V240I exm562145 6 76728557 [T/C] NM_001563 IMPG1 EXON Missense_A229T exm2131240 6 76731849 [A/G] NM_001563 IMPG1 EXON Missense_T217I exm562147 6 76731853 [T/C] NM_001563 IMPG1 EXON Missense_D216N exm562149 6 76731868 [T/C] NM_001563 IMPG1 EXON Missense_D211N exm2131241 6 76731927 [T/C] NM_001563 IMPG1 EXON Missense_N191S exm562166 6 76751738 [T/C] NM_001563 IMPG1 EXON Missense_R58K exm562168 6 76751781 [T/C] NM_001563 IMPG1 EXON Missense_T44A exm2257928 6 76782191 [A/G] NM_001563 IMPG1 EXON Synonymous_T5T exm562174 6 76782191 [A/G] NM_001563 IMPG1 EXON Synonymous_T5T exm562176 6 76782204 [T/A] NM_001563 IMPG1 EXON Missense_M1K exm-rs4706636 6 77566201 [T/C] exm2270344 6 77599333 [T/G] exm2266218 6 78129122 [A/G] exm2244444 6 78172085 [A/G] NM_000863 HTR1B EXON Missense_F346L exm562211 6 78172750 [A/C] NM_000863 HTR1B EXON Missense_F124C exm2257935 6 78172992 [A/G] NM_000863 HTR1B EXON Synonymous_S43S exm2262173 6 78184375 [T/G] exm2266219 6 78357775 [A/G] exm2266221 6 79196788 [A/G] exm-rs9352613 6 79424433 [A/G] exm562232 6 79577303 [T/C] NM_001010844 IRAK1BP1 EXON Nonsense_Q4X exm562233 6 79577312 [T/C] NM_001010844 IRAK1BP1 EXON Missense_P7S exm562236 6 79577384 [A/G] NM_001010844 IRAK1BP1 EXON Missense_R31G exm562238 6 79577412 [G/C] NM_001010844 IRAK1BP1 EXON Missense_P40R exm562239 6 79577426 [G/C] NM_001010844 IRAK1BP1 EXON Missense_Q45E exm562245 6 79577544 [T/C] NM_001010844 IRAK1BP1 EXON Missense_A84V exm562251 6 79595096 [T/C] NM_001010844 IRAK1BP1 EXON Missense_A106V exm2244448 6 79607551 [A/C] NM_001010844 IRAK1BP1 EXON Nonsense_C129X exm562258 6 79607589 [T/G] NM_001010844 IRAK1BP1 EXON Missense_C142F exm562260 6 79607675 [T/C] NM_001010844 IRAK1BP1 EXON Nonsense_R171X exm2274168 6 79607785 [A/C] NM_001010844 IRAK1BP1 EXON Missense_Q173K exm562262 6 79607806 [A/G] NM_001010844 IRAK1BP1 EXON Missense_E180K exm562265 6 79607845 [T/G] NM_001010844 IRAK1BP1 EXON Missense_V193F exm562266 6 79607905 [A/G] NM_001010844 IRAK1BP1 EXON Missense_G213S exm2131332 6 79608006 [A/G] NM_001010844 IRAK1BP1 EXON Missense_I246M exm-rs10943605 6 79655477 [A/G] NM_017934 PHIP Silent exm562299 6 79655736 [T/C] NM_017934 PHIP EXON Missense_A1538T exm562300 6 79655763 [T/G] NM_017934 PHIP EXON Missense_T1529P exm562322 6 79665367 [T/C] NM_017934 PHIP EXON Missense_Y1272C exm562329 6 79675701 [A/G] NM_017934 PHIP EXON Missense_L1093P exm562344 6 79688418 [A/C] NM_017934 PHIP EXON Missense_V927G exm562350 6 79692751 [A/G] NM_017934 PHIP EXON Missense_T874I exm562373 6 79708000 [A/C] NM_017934 PHIP EXON Missense_V663G exm562389 6 79725496 [T/G] NM_017934 PHIP EXON Missense_N414H exm2270345 6 79745107 [T/C] NM_017934 PHIP Silent exm562412 6 79787224 [C/G] NM_017934 PHIP EXON Missense_L44V exm562436 6 79912064 [T/C] NM_138730,NM_004242,NM_001201363,NM_001201362 HMGN3,HMGN3,HMGN3,HMGN3 EXON Missense_K64E,Missense_K64E,Missense_K64E,Missense_K64E exm562438 6 79913302 [G/C] NM_138730,NM_004242,NM_001201363,NM_001201362 HMGN3,HMGN3,HMGN3,HMGN3 EXON Missense_A48P,Missense_A48P,Missense_A48P,Missense_A48P exm2257941 6 80010402 [T/G] exm2264204 6 80036302 [A/C] exm562454 6 80196789 [A/C] NM_001122769,NM_181714 LCA5,LCA5 EXON Missense_D676Y,Missense_D676Y exm562457 6 80196848 [T/C] NM_001122769,NM_181714 LCA5,LCA5 EXON Missense_G656D,Missense_G656D exm562460 6 80196972 [T/C] NM_001122769,NM_181714 LCA5,LCA5 EXON Missense_S615G,Missense_S615G exm2131418 6 80197173 [A/G] NM_001122769,NM_181714 LCA5,LCA5 EXON Missense_P548S,Missense_P548S exm562470 6 80197236 [T/C] NM_001122769,NM_181714 LCA5,LCA5 EXON Missense_I527V,Missense_I527V exm562490 6 80197542 [G/C] NM_001122769,NM_181714 LCA5,LCA5 EXON Missense_A425P,Missense_A425P exm562497 6 80198831 [T/C] NM_001122769,NM_181714 LCA5,LCA5 EXON Missense_V401I,Missense_V401I exm562512 6 80202304 [G/C] NM_001122769,NM_181714 LCA5,LCA5 EXON Missense_P307A,Missense_P307A exm562513 6 80202321 [T/C] NM_001122769,NM_181714 LCA5,LCA5 EXON Missense_R301H,Missense_R301H exm562520 6 80203376 [T/C] NM_001122769,NM_181714 LCA5,LCA5 EXON Missense_N271S,Missense_N271S exm562522 6 80203425 [A/G] NM_001122769,NM_181714 LCA5,LCA5 EXON Nonsense_R255X,Nonsense_R255X exm562530 6 80223128 [T/C] NM_001122769,NM_181714 LCA5,LCA5 EXON Missense_R174H,Missense_R174H exm562531 6 80223161 [T/C] NM_001122769,NM_181714 LCA5,LCA5 EXON Missense_R163H,Missense_R163H exm562545 6 80223368 [T/C] NM_001122769,NM_181714 LCA5,LCA5 EXON Missense_R94Q,Missense_R94Q exm562550 6 80223452 [T/C] NM_001122769,NM_181714 LCA5,LCA5 EXON Missense_R66Q,Missense_R66Q exm562551 6 80223453 [A/G] NM_001122769,NM_181714 LCA5,LCA5 EXON Missense_R66W,Missense_R66W exm562556 6 80228535 [T/G] NM_001122769,NM_181714 LCA5,LCA5 EXON Missense_D26A,Missense_D26A exm562557 6 80228541 [A/G] NM_001122769,NM_181714 LCA5,LCA5 EXON Missense_L24S,Missense_L24S exm562568 6 80383340 [A/C] NM_031469 SH3BGRL2 EXON Missense_K19Q exm562575 6 80383448 [T/C] NM_031469 SH3BGRL2 EXON Missense_P55S exm562581 6 80406266 [T/C] NM_031469 SH3BGRL2 EXON Missense_P99L exm-rs346291 6 80564836 [T/C] NM_001243308 C6orf7 Silent exm2266222 6 80598166 [A/G] exm2244454 6 80624530 [T/A] NM_022726 ELOVL4 EXON Silent exm562597 6 80626339 [T/C] NM_022726 ELOVL4 EXON Missense_A311T exm562598 6 80626375 [T/C] NM_022726 ELOVL4 EXON Missense_M299V exm562602 6 80626456 [G/C] NM_022726 ELOVL4 EXON Missense_E272Q exm562603 6 80626470 [A/G] NM_022726 ELOVL4 EXON Missense_I267T exm2257943 6 80629155 [A/G] NM_022726 ELOVL4 EXON Synonymous_Y217Y exm562612 6 80634687 [T/A] NM_022726 ELOVL4 EXON Missense_N117K exm562624 6 80717615 [T/G] NM_001166691,NM_003318 TTK,TTK EXON Missense_V77F,Missense_V77F exm562628 6 80717676 [T/C] NM_001166691,NM_003318 TTK,TTK EXON Missense_A97V,Missense_A97V exm562629 6 80718183 [C/G] NM_001166691,NM_003318 TTK,TTK EXON Missense_S148C,Missense_S148C exm562633 6 80720614 [T/C] NM_001166691,NM_003318 TTK,TTK EXON Missense_R185W,Missense_R185W exm562644 6 80721446 [A/G] NM_001166691,NM_003318 TTK,TTK EXON Synonymous_G243G,Synonymous_G243G exm562645 6 80721453 [A/G] NM_001166691,NM_003318 TTK,TTK EXON Missense_M246V,Missense_M246V exm562646 6 80721463 [A/C] NM_001166691,NM_003318 TTK,TTK EXON Missense_Q249P,Missense_Q249P exm562648 6 80721475 [T/C] NM_001166691,NM_003318 TTK,TTK EXON Missense_I253T,Missense_I253T exm562649 6 80721480 [T/C] NM_001166691,NM_003318 TTK,TTK EXON Missense_Y255H,Missense_Y255H exm562650 6 80721483 [T/C] NM_001166691,NM_003318 TTK,TTK EXON Missense_R256W,Missense_R256W exm562658 6 80723046 [T/C] NM_001166691,NM_003318 TTK,TTK EXON Missense_P316L,Missense_P316L exm562662 6 80724261 [G/C] NM_001166691,NM_003318 TTK,TTK EXON Missense_L356V,Missense_L356V exm562663 6 80724274 [T/C] NM_001166691,NM_003318 TTK,TTK EXON Missense_T360M,Missense_T360M exm562666 6 80732050 [A/G] NM_001166691,NM_003318 TTK,TTK EXON Missense_E373G,Missense_E373G exm562669 6 80732118 [A/G] NM_001166691,NM_003318 TTK,TTK EXON Missense_I396V,Missense_I396V exm2131501 6 80732137 [T/C] NM_001166691,NM_003318 TTK,TTK EXON Missense_A402V,Missense_A402V exm562673 6 80732172 [G/C] NM_001166691,NM_003318 TTK,TTK EXON Missense_R414G,Missense_R414G exm2244459 6 80736162 [G/C] NM_001166691,NM_003318 TTK,TTK EXON Missense_S441C,Missense_S442C exm562682 6 80736185 [A/G] NM_001166691,NM_003318 TTK,TTK EXON Missense_I449V,Missense_I450V exm562685 6 80737646 [A/C] NM_001166691,NM_003318 TTK,TTK EXON Missense_Q479P,Missense_Q480P exm562687 6 80737702 [T/C] NM_001166691,NM_003318 TTK,TTK EXON Missense_L498F,Missense_L499F exm562692 6 80741218 [T/C] NM_001166691,NM_003318 TTK,TTK EXON Missense_S518L,Missense_S519L exm562693 6 80741230 [T/G] NM_001166691,NM_003318 TTK,TTK EXON Missense_R522I,Missense_R523I exm562699 6 80744793 [A/G] NM_001166691,NM_003318 TTK,TTK EXON Missense_R568Q,Missense_R569Q exm562705 6 80745051 [A/G] NM_001166691,NM_003318 TTK,TTK EXON Missense_K613R,Missense_K614R exm562715 6 80749551 [T/C] NM_001166691,NM_003318 TTK,TTK EXON Missense_P756S,Missense_P757S exm562717 6 80749554 [A/G] NM_001166691,NM_003318 TTK,TTK EXON Missense_D757N,Missense_D758N exm562725 6 80750397 [A/C] NM_001166691,NM_003318 TTK,TTK EXON Missense_N822H,Missense_N823H exm562742 6 80816532 [T/C] NM_000056,NM_183050 BCKDHB,BCKDHB EXON Missense_T41I,Missense_T41I exm562749 6 80838928 [C/G] NM_000056,NM_183050 BCKDHB,BCKDHB EXON Missense_G109R,Missense_G109R exm562759 6 80878662 [G/C] NM_000056,NM_183050 BCKDHB,BCKDHB EXON Missense_R183P,Missense_R183P exm562762 6 80878747 [C/G] NM_000056,NM_183050 BCKDHB,BCKDHB EXON Missense_K211N,Missense_K211N exm2131551 6 80881030 [T/A] NM_000056,NM_183050 BCKDHB,BCKDHB EXON Missense_K222I,Missense_K222I exm562765 6 80910652 [A/G] NM_000056,NM_183050 BCKDHB,BCKDHB EXON Synonymous_A248A,Synonymous_A248A exm562766 6 80910680 [T/A] NM_000056,NM_183050 BCKDHB,BCKDHB EXON Missense_I258F,Missense_I258F exm562772 6 80910740 [A/G] NM_000056,NM_183050 BCKDHB,BCKDHB EXON Missense_G278S,Missense_G278S exm-rs648831 6 80956208 [T/C] NM_000056,NM_183050 BCKDHB,BCKDHB Silent,Silent exm-rs1341278 6 81038921 [T/G] NM_000056,NM_183050 BCKDHB,BCKDHB Silent,Silent exm-rs7761777 6 81092467 [T/C] exm2264205 6 81136945 [A/C] exm2270347 6 81253073 [T/C] exm-rs9443804 6 81315597 [A/G] exm2257946 6 81684572 [T/C] exm-rs310405 6 81800362 [A/G] exm2262178 6 81913895 [A/G] exm2266223 6 82221302 [A/G] exm562810 6 82461465 [C/G] NM_017633 FAM46A EXON Missense_D132H exm562822 6 82461623 [T/C] NM_017633 FAM46A EXON Missense_S79N exm562832 6 82461723 [T/C] NM_017633 FAM46A EXON Missense_G46S exm562836 6 82461785 [T/C] NM_017633 FAM46A EXON Missense_G25D exm2270496 6 82467107 [T/C] exm-rs16893526 6 82515315 [A/G] exm2270349 6 82807521 [T/C] exm562859 6 82882185 [A/G] NM_015525 IBTK EXON Missense_P1281L exm562861 6 82882197 [A/G] NM_015525 IBTK EXON Missense_S1277F exm562872 6 82891626 [A/C] NM_015525 IBTK EXON Missense_I1232S exm562878 6 82900811 [A/G] NM_015525 IBTK EXON Missense_A1185V exm562880 6 82900862 [T/C] NM_015525 IBTK EXON Missense_N1168S exm562882 6 82900919 [T/C] NM_015525 IBTK EXON Missense_H1149R exm562885 6 82901514 [T/A] NM_015525 IBTK EXON Missense_S1141T exm562892 6 82904346 [A/G] NM_015525 IBTK EXON Missense_P1063L exm562900 6 82910404 [T/C] NM_015525 IBTK EXON Missense_V938I exm562909 6 82914640 [T/C] NM_015525 IBTK EXON Missense_V849M exm562910 6 82920573 [T/C] NM_015525 IBTK EXON Missense_I823V exm562911 6 82920617 [T/C] NM_015525 IBTK EXON Missense_C808Y exm562917 6 82921239 [C/G] NM_015525 IBTK EXON Missense_P781R exm562927 6 82924311 [A/C] NM_015525 IBTK EXON Missense_A613S exm562938 6 82925868 [A/G] NM_015525 IBTK EXON Missense_A509V exm562941 6 82925967 [T/G] NM_015525 IBTK EXON Missense_E476A exm562942 6 82927691 [T/C] NM_015525 IBTK EXON Missense_S471N exm2257949 6 82927696 [T/C] NM_015525 IBTK EXON Synonymous_R469R exm562943 6 82927696 [T/C] NM_015525 IBTK EXON Synonymous_R469R exm562953 6 82933268 [T/C] NM_015525 IBTK EXON Missense_K338R exm2131651 6 82935295 [T/C] NM_015525 IBTK EXON Missense_V242I exm562965 6 82943878 [A/G] NM_015525 IBTK EXON Missense_T139I exm562971 6 82950189 [T/C] NM_015525 IBTK EXON Missense_M5I exm2270350 6 83010602 [T/C] exm562986 6 83074937 [A/G] NM_006670,NM_001166392 TPBG,TPBG EXON Missense_T87A,Missense_T87A exm2257951 6 83074954 [T/C] NM_006670,NM_001166392 TPBG,TPBG EXON Synonymous_Y92Y,Synonymous_Y92Y exm562987 6 83074954 [T/C] NM_006670,NM_001166392 TPBG,TPBG EXON Synonymous_Y92Y,Synonymous_Y92Y exm563005 6 83075231 [T/C] NM_006670,NM_001166392 TPBG,TPBG EXON Missense_P185S,Missense_P185S exm563025 6 83075648 [A/G] NM_006670,NM_001166392 TPBG,TPBG EXON Missense_A324T,Missense_A324T exm563026 6 83075649 [A/C] NM_006670,NM_001166392 TPBG,TPBG EXON Missense_A324E,Missense_A324E exm563037 6 83075906 [A/G] NM_006670,NM_001166392 TPBG,TPBG EXON Missense_R410G,Missense_R410G exm-rs744436 6 83588229 [T/C] exm2262180 6 83610839 [T/C] NM_198920 UBE3D Silent exm563046 6 83667045 [T/C] NM_198920 UBE3D EXON Missense_V379M exm563047 6 83667048 [A/G] NM_198920 UBE3D EXON Missense_R378C exm563048 6 83667103 [G/C] NM_198920 UBE3D EXON Missense_L359F exm563052 6 83667138 [T/C] NM_198920 UBE3D EXON Missense_V348I exm2131675 6 83728726 [A/G] NM_198920 UBE3D EXON Missense_L326F exm563058 6 83728759 [T/C] NM_198920 UBE3D EXON Missense_D315N exm2270351 6 83733785 [T/C] NM_198920 UBE3D Silent exm563075 6 83748170 [T/C] NM_198920 UBE3D EXON Missense_R211H exm563076 6 83748171 [A/G] NM_198920 UBE3D EXON Missense_R211C exm563079 6 83754169 [T/G] NM_198920 UBE3D EXON Missense_S192Y exm563097 6 83767614 [A/G] NM_198920 UBE3D EXON Missense_R69C exm563104 6 83775382 [T/C] NM_198920 UBE3D EXON Missense_Q19R exm563117 6 83810533 [T/C] NM_015018,NM_001199942 DOPEY1,DOPEY1 EXON Missense_A83V,Missense_A83V exm563133 6 83828614 [A/G] NM_015018,NM_001199942 DOPEY1,DOPEY1 EXON Missense_R263Q,Missense_R263Q exm563140 6 83831730 [T/C] NM_015018,NM_001199942 DOPEY1,DOPEY1 EXON Missense_T394I,Missense_T385I exm563150 6 83835308 [G/C] NM_015018,NM_001199942 DOPEY1,DOPEY1 EXON Missense_H525Q,Missense_H516Q exm563151 6 83835312 [A/T] NM_015018,NM_001199942 DOPEY1,DOPEY1 EXON Missense_S527T,Missense_S518T exm563153 6 83835348 [A/G] NM_015018,NM_001199942 DOPEY1,DOPEY1 EXON Missense_I539V,Missense_I530V exm563164 6 83838673 [A/G] NM_015018,NM_001199942 DOPEY1,DOPEY1 EXON Missense_R596Q,Missense_R587Q exm563165 6 83838684 [A/T] NM_015018,NM_001199942 DOPEY1,DOPEY1 EXON Missense_S600C,Missense_S591C exm563167 6 83838852 [A/G] NM_015018,NM_001199942 DOPEY1,DOPEY1 EXON Missense_V656I,Missense_V647I exm2131732 6 83838955 [A/C] NM_015018,NM_001199942 DOPEY1,DOPEY1 EXON Missense_N690T,Missense_N681T exm563170 6 83838973 [A/G] NM_015018,NM_001199942 DOPEY1,DOPEY1 EXON Missense_N696S,Missense_N687S exm563171 6 83839123 [T/C] NM_015018,NM_001199942 DOPEY1,DOPEY1 EXON Missense_A746V,Missense_A737V exm563173 6 83839843 [T/C] NM_015018,NM_001199942 DOPEY1,DOPEY1 EXON Synonymous_D781D,Synonymous_D772D exm563182 6 83841928 [T/G] NM_015018,NM_001199942 DOPEY1,DOPEY1 EXON Missense_D884Y,Missense_D875Y exm563218 6 83847305 [A/C] NM_015018,NM_001199942 DOPEY1,DOPEY1 EXON Missense_P1182T,Missense_P1173T exm563219 6 83847326 [C/G] NM_015018,NM_001199942 DOPEY1,DOPEY1 EXON Missense_P1189A,Missense_P1180A exm563220 6 83847339 [T/C] NM_015018,NM_001199942 DOPEY1,DOPEY1 EXON Missense_T1193M,Missense_T1184M exm563226 6 83847495 [T/C] NM_015018,NM_001199942 DOPEY1,DOPEY1 EXON Missense_T1245I,Missense_T1236I exm563230 6 83847590 [T/C] NM_015018,NM_001199942 DOPEY1,DOPEY1 EXON Missense_S1277P,Missense_S1268P exm563233 6 83847699 [C/G] NM_015018,NM_001199942 DOPEY1,DOPEY1 EXON Missense_S1313C,Missense_S1304C exm2131757 6 83847717 [A/G] NM_015018,NM_001199942 DOPEY1,DOPEY1 EXON Missense_K1319R,Missense_K1310R exm563234 6 83847726 [A/G] NM_015018,NM_001199942 DOPEY1,DOPEY1 EXON Missense_S1322N,Missense_S1313N exm2131759 6 83847825 [A/G] NM_015018,NM_001199942 DOPEY1,DOPEY1 EXON Missense_R1355Q,Missense_R1346Q exm563242 6 83848154 [T/C] NM_015018,NM_001199942 DOPEY1,DOPEY1 EXON Missense_R1465C,Missense_R1456C exm563247 6 83848215 [T/C] NM_015018,NM_001199942 DOPEY1,DOPEY1 EXON Missense_M1485T,Missense_M1476T exm563248 6 83848222 [A/G] NM_015018,NM_001199942 DOPEY1,DOPEY1 EXON Missense_M1487I,Missense_M1478I exm563251 6 83848328 [A/G] NM_015018,NM_001199942 DOPEY1,DOPEY1 EXON Missense_K1523E,Missense_K1514E exm563255 6 83848454 [A/G] NM_015018,NM_001199942 DOPEY1,DOPEY1 EXON Missense_I1565V,Missense_I1556V exm563272 6 83850049 [T/A] NM_015018,NM_001199942 DOPEY1,DOPEY1 EXON Missense_Q1781L,Missense_Q1772L exm563274 6 83850087 [A/G] NM_015018,NM_001199942 DOPEY1,DOPEY1 EXON Missense_A1794T,Missense_A1785T exm563275 6 83850108 [T/C] NM_015018,NM_001199942 DOPEY1,DOPEY1 EXON Missense_L1801F,Missense_L1792F exm563280 6 83851743 [A/G] NM_015018,NM_001199942 DOPEY1,DOPEY1 EXON Missense_N1840S,Missense_N1831S exm563283 6 83855253 [T/C] NM_015018,NM_001199942 DOPEY1,DOPEY1 EXON Missense_A1851V,Missense_A1842V exm2131799 6 83877729 [A/G] NM_015018,NM_001199942,NM_001199917,NM_015599,NM_001199918,NM_001199919 DOPEY1,DOPEY1,PGM3,PGM3,PGM3,PGM3 EXON Missense_R2414Q,Missense_R2425Q,Silent,Silent,Silent,Silent exm563333 6 83878970 [T/G] NM_001199917,NM_015599,NM_001199918,NM_001199919 PGM3,PGM3,PGM3,PGM3 EXON Missense_P566T,Missense_P538T,Silent,Missense_P538T exm563344 6 83880167 [T/C] NM_001199917,NM_015599,NM_001199918,NM_001199919 PGM3,PGM3,PGM3,PGM3 EXON Missense_D494N,Missense_D466N,Missense_D385N,Missense_D466N exm563347 6 83881667 [T/G] NM_001199917,NM_015599,NM_001199918,NM_001199919 PGM3,PGM3,PGM3,PGM3 EXON Missense_L480I,Missense_L452I,Missense_L371I,Missense_L452I exm563348 6 83881694 [C/G] NM_001199917,NM_015599,NM_001199918,NM_001199919 PGM3,PGM3,PGM3,PGM3 EXON Missense_L471V,Missense_L443V,Missense_L362V,Missense_L443V exm563351 6 83884131 [T/C] NM_001199917,NM_015599,NM_001199918,NM_001199919 PGM3,PGM3,PGM3,PGM3 EXON Missense_A430T,Missense_A402T,Missense_A321T,Missense_A402T exm563355 6 83885724 [A/T] NM_001199917,NM_015599,NM_001199918,NM_001199919 PGM3,PGM3,PGM3,PGM3 EXON Missense_E390V,Missense_E362V,Missense_E281V,Missense_E362V exm2131812 6 83888401 [T/G] NM_001199917,NM_015599,NM_001199918,NM_001199919 PGM3,PGM3,PGM3,PGM3 EXON Missense_E368D,Missense_E340D,Missense_E259D,Missense_E340D exm563366 6 83891624 [T/G] NM_001199917,NM_015599,NM_001199918,NM_001199919 PGM3,PGM3,PGM3,PGM3 EXON Missense_R234S,Missense_R206S,Missense_R125S,Missense_R206S exm563369 6 83892634 [A/C] NM_001199917,NM_015599,NM_001199918,NM_001199919 PGM3,PGM3,PGM3,PGM3 EXON Missense_R202L,Missense_R174L,Missense_R93L,Missense_R174L exm563375 6 83892687 [A/C] NM_001199917,NM_015599,NM_001199918,NM_001199919 PGM3,PGM3,PGM3,PGM3 EXON Missense_L184F,Missense_L156F,Missense_L75F,Missense_L156F exm2131825 6 83898373 [T/G] NM_001199917,NM_015599,NM_001199918,NM_001199919 PGM3,PGM3,PGM3,PGM3 EXON Missense_L145M,Missense_L117M,Missense_L36M,Missense_L117M exm563386 6 83900554 [T/C] NM_001199917,NM_015599,NM_001199918,NM_001199919 PGM3,PGM3,PGM3,PGM3 EXON Missense_M88V,Missense_M60V,Silent,Missense_M60V exm563390 6 83900923 [A/T] NM_001199917,NM_015599,NM_001199918,NM_001199919 PGM3,PGM3,PGM3,PGM3 EXON Missense_V22D,Silent,Silent,Silent exm563396 6 83904318 [T/G] NM_033411 RWDD2A EXON Missense_A50S exm563400 6 83905456 [T/C] NM_033411 RWDD2A EXON Missense_P115L exm563423 6 83933509 [G/C] NM_002395 ME1 EXON Missense_I473M exm563427 6 83933649 [A/G] NM_002395 ME1 EXON Missense_R427C exm563439 6 83947458 [T/G] NM_002395 ME1 EXON Missense_D335A exm563442 6 83947495 [A/G] NM_002395 ME1 EXON Missense_P323S exm563446 6 83949285 [T/G] NM_002395 ME1 EXON Missense_Q295H exm563448 6 83963383 [T/C] NM_002395 ME1 EXON Missense_R260Q exm2270352 6 83968946 [T/G] NM_002395 ME1 Silent exm563456 6 84025099 [A/G] NM_002395 ME1 EXON Missense_R212W exm563470 6 84108085 [T/C] NM_002395 ME1 Silent exm563472 6 84108096 [A/G] NM_002395 ME1 EXON Missense_R118W exm563473 6 84108107 [G/C] NM_002395 ME1 EXON Missense_S114T exm563479 6 84108200 [A/T] NM_002395 ME1 EXON Missense_E83V exm563483 6 84117512 [T/C] NM_002395 ME1 EXON Missense_E63K exm563502 6 84233570 [T/G] NM_153362,NM_001170423 PRSS35,PRSS35 EXON Missense_R137M,Missense_R137M exm563504 6 84233591 [A/T] NM_153362,NM_001170423 PRSS35,PRSS35 EXON Missense_F144Y,Missense_F144Y exm563511 6 84233767 [T/C] NM_153362,NM_001170423 PRSS35,PRSS35 EXON Missense_S203P,Missense_S203P exm563515 6 84233831 [A/G] NM_153362,NM_001170423 PRSS35,PRSS35 EXON Missense_R224Q,Missense_R224Q exm563517 6 84233873 [A/G] NM_153362,NM_001170423 PRSS35,PRSS35 EXON Missense_R238Q,Missense_R238Q exm563519 6 84233939 [T/C] NM_153362,NM_001170423 PRSS35,PRSS35 EXON Missense_P260L,Missense_P260L exm2131904 6 84234100 [A/G] NM_153362,NM_001170423 PRSS35,PRSS35 EXON Missense_N314D,Missense_N314D exm563529 6 84234155 [A/G] NM_153362,NM_001170423 PRSS35,PRSS35 EXON Missense_N332S,Missense_N332S exm563542 6 84234391 [T/G] NM_153362,NM_001170423 PRSS35,PRSS35 EXON Missense_A411S,Missense_A411S exm563543 6 84234398 [G/C] NM_153362,NM_001170423 PRSS35,PRSS35 EXON Missense_G413A,Missense_G413A exm563548 6 84269839 [C/G] NM_014841,NM_001242794,NM_001242793,NM_001256717,NM_001242792,NM_001256718 SNAP91,SNAP91,SNAP91,SNAP91,SNAP91,SNAP91 EXON Missense_A872G,Missense_A565G,Missense_A842G,Missense_A781G,Missense_A872G,Missense_A748G exm563566 6 84291956 [A/G] NM_014841,NM_001242794,NM_001242793,NM_001256717,NM_001242792,NM_001256718 SNAP91,SNAP91,SNAP91,SNAP91,SNAP91,SNAP91 EXON Missense_S712P,Missense_S405P,Missense_S682P,Missense_S621P,Missense_S712P,Missense_S593P exm563567 6 84291977 [A/G] NM_014841,NM_001242794,NM_001242793,NM_001256717,NM_001242792,NM_001256718 SNAP91,SNAP91,SNAP91,SNAP91,SNAP91,SNAP91 EXON Missense_P705S,Missense_P398S,Missense_P675S,Missense_P614S,Missense_P705S,Missense_P586S exm563571 6 84300969 [A/C] NM_014841,NM_001242794,NM_001242793,NM_001256717,NM_001242792,NM_001256718 SNAP91,SNAP91,SNAP91,SNAP91,SNAP91,SNAP91 EXON Missense_A659S,Silent,Missense_A629S,Missense_A568S,Missense_A659S,Missense_A540S exm563578 6 84302227 [A/G] NM_014841,NM_001242794,NM_001242793,NM_001256717,NM_001242792,NM_001256718 SNAP91,SNAP91,SNAP91,SNAP91,SNAP91,SNAP91 EXON Missense_T626I,Silent,Silent,Silent,Missense_T626I,Missense_T507I exm563585 6 84303230 [T/C] NM_014841,NM_001242794,NM_001242793,NM_001256717,NM_001242792,NM_001256718 SNAP91,SNAP91,SNAP91,SNAP91,SNAP91,SNAP91 EXON Missense_T555A,Silent,Missense_T553A,Missense_T518A,Missense_T555A,Missense_T436A exm563592 6 84303295 [T/G] NM_014841,NM_001242794,NM_001242793,NM_001256717,NM_001242792,NM_001256718 SNAP91,SNAP91,SNAP91,SNAP91,SNAP91,SNAP91 EXON Missense_A533D,Silent,Missense_A531D,Missense_A496D,Missense_A533D,Missense_A414D exm563601 6 84304096 [T/C] NM_014841,NM_001242794,NM_001242793,NM_001256717,NM_001242792,NM_001256718 SNAP91,SNAP91,SNAP91,SNAP91,SNAP91,SNAP91 EXON Missense_N477D,Silent,Missense_N475D,Missense_N440D,Missense_N477D,Missense_N358D exm563632 6 84350864 [A/C] NM_014841,NM_001242794,NM_001242793,NM_001256717,NM_001242792,NM_001256718 SNAP91,SNAP91,SNAP91,SNAP91,SNAP91,SNAP91 EXON Missense_R239L,Missense_R239L,Missense_R239L,Missense_R204L,Missense_R239L,Missense_R120L exm563642 6 84375190 [T/C] NM_014841,NM_001242794,NM_001242793,NM_001256717,NM_001242792,NM_001256718 SNAP91,SNAP91,SNAP91,SNAP91,SNAP91,SNAP91 EXON Missense_T81A,Missense_T81A,Missense_T81A,Missense_T46A,Missense_T81A,Silent exm2270498 6 84520520 [T/C] exm563660 6 84563879 [A/T] NM_001009994 RIPPLY2 EXON Nonsense_R80X exm563667 6 84567037 [A/C] NM_001009994 RIPPLY2 EXON Missense_Q106K exm563668 6 84567073 [A/G] NM_001009994 RIPPLY2 EXON Missense_E118K exm563671 6 84567107 [A/C] NM_001009994 RIPPLY2 EXON Missense_X129S exm563677 6 84573964 [A/G] NM_016230 CYB5R4 EXON Missense_G49E exm563692 6 84624141 [A/G] NM_016230 CYB5R4 EXON Missense_R140H exm563702 6 84629148 [T/C] NM_016230 CYB5R4 EXON Missense_T180I exm563703 6 84629169 [A/G] NM_016230 CYB5R4 EXON Missense_Q187R exm2257956 6 84630830 [T/C] NM_016230 CYB5R4 EXON Synonymous_D198D exm563713 6 84632166 [A/G] NM_016230 CYB5R4 EXON Missense_H223R exm563719 6 84634296 [C/G] NM_016230 CYB5R4 EXON Missense_P267A exm2132013 6 84644353 [T/A] NM_016230 CYB5R4 EXON Missense_D285V exm563723 6 84644445 [T/C] NM_016230 CYB5R4 EXON Missense_P316S exm563725 6 84646005 [A/C] NM_016230 CYB5R4 EXON Missense_P340T exm563731 6 84649795 [T/A] NM_016230 CYB5R4 EXON Missense_S377C exm563737 6 84650310 [A/G] NM_016230 CYB5R4 EXON Missense_K446E exm563741 6 84665079 [T/G] NM_016230 CYB5R4 EXON Missense_I470S exm563743 6 84665138 [A/G] NM_016230 CYB5R4 EXON Missense_V490I exm563755 6 84772624 [T/C] NM_138409 MRAP2 EXON Missense_I47T exm563761 6 84798871 [T/C] NM_138409 MRAP2 EXON Missense_P97S exm563766 6 84798955 [T/C] NM_138409 MRAP2 EXON Missense_R125C exm563767 6 84798956 [A/G] NM_138409 MRAP2 EXON Missense_R125H exm563784 6 84834848 [A/G] NM_014895 KIAA1009 EXON Missense_R1385W exm2275897 6 84856444 [A/C] NM_014895 KIAA1009 EXON Missense_V1278L exm563799 6 84859300 [T/C] NM_014895 KIAA1009 EXON Missense_R1251H exm563808 6 84862511 [G/C] NM_014895 KIAA1009 EXON Missense_E1128Q exm563811 6 84862546 [T/C] NM_014895 KIAA1009 EXON Missense_R1116K exm563814 6 84862583 [A/G] NM_014895 KIAA1009 EXON Missense_L1104F exm563816 6 84862669 [T/C] NM_014895 KIAA1009 EXON Missense_E1075G exm563817 6 84862690 [A/T] NM_014895 KIAA1009 EXON Missense_D1068V exm563818 6 84862700 [T/C] NM_014895 KIAA1009 EXON Missense_D1065N exm563822 6 84862806 [A/C] NM_014895 KIAA1009 EXON Missense_K1029N exm563827 6 84865049 [A/G] NM_014895 KIAA1009 EXON Missense_R988C exm563832 6 84865159 [T/G] NM_014895 KIAA1009 EXON Nonsense_S951X exm563837 6 84870584 [A/G] NM_014895 KIAA1009 EXON Missense_R910C exm563845 6 84871572 [A/G] NM_014895 KIAA1009 EXON Missense_R857C exm563850 6 84879058 [A/G] NM_014895 KIAA1009 EXON Missense_R792W exm563855 6 84881338 [T/C] NM_014895 KIAA1009 EXON Missense_V756I exm563856 6 84881373 [T/C] NM_014895 KIAA1009 EXON Missense_R744Q exm563857 6 84881407 [A/C] NM_014895 KIAA1009 EXON Missense_D733Y exm563862 6 84883836 [A/C] NM_014895 KIAA1009 EXON Synonymous_T699T exm2257957 6 84883836 [A/C] NM_014895 KIAA1009 EXON Synonymous_T699T exm563863 6 84883858 [T/C] NM_014895 KIAA1009 EXON Missense_G692E exm563870 6 84884544 [T/G] NM_014895 KIAA1009 EXON Missense_K643Q exm563874 6 84884583 [C/G] NM_014895 KIAA1009 EXON Missense_Q630E exm563877 6 84884619 [T/C] NM_014895 KIAA1009 EXON Missense_R618G exm563880 6 84894910 [T/C] NM_014895 KIAA1009 EXON Missense_K553R exm563889 6 84895018 [T/A] NM_014895 KIAA1009 EXON Missense_K517I exm563891 6 84895024 [T/C] NM_014895 KIAA1009 EXON Missense_Y515C exm563905 6 84896196 [T/C] NM_014895 KIAA1009 EXON Missense_T419A exm563910 6 84896252 [T/C] NM_014895 KIAA1009 EXON Missense_Q400R exm563914 6 84896316 [T/C] NM_014895 KIAA1009 EXON Missense_E379K exm563916 6 84896325 [T/C] NM_014895 KIAA1009 EXON Missense_E376K exm563920 6 84903352 [T/C] NM_014895 KIAA1009 EXON Missense_S362G exm563924 6 84904604 [G/C] NM_014895 KIAA1009 EXON Missense_S342C exm2266318 6 84908967 [A/G] NM_014895 KIAA1009 Silent exm563955 6 84925121 [T/G] NM_014895 KIAA1009 EXON Missense_Q128K exm563958 6 84925536 [T/C] NM_014895 KIAA1009 EXON Missense_S93G exm563960 6 84925550 [A/T] NM_014895 KIAA1009 EXON Missense_Q88L exm563961 6 84925563 [G/C] NM_014895 KIAA1009 EXON Missense_A84P exm563962 6 84925582 [T/C] NM_014895 KIAA1009 EXON Missense_M77I exm563963 6 84925583 [A/G] NM_014895 KIAA1009 EXON Missense_M77T exm563972 6 84930825 [T/C] NM_014895 KIAA1009 EXON Missense_K41R exm2257958 6 84971363 [A/G] exm563986 6 85446566 [A/G] NM_001080508 TBX18 EXON Missense_F554S exm563989 6 85446644 [A/G] NM_001080508 TBX18 EXON Missense_A528V exm2244487 6 85446669 [T/C] NM_001080508 TBX18 EXON Missense_T520A exm564003 6 85446837 [T/G] NM_001080508 TBX18 EXON Missense_T464P exm564006 6 85446962 [T/C] NM_001080508 TBX18 EXON Missense_R422H exm564008 6 85446984 [T/C] NM_001080508 TBX18 EXON Missense_A415T exm564013 6 85447124 [T/C] NM_001080508 TBX18 EXON Missense_N368S exm564014 6 85447125 [T/G] NM_001080508 TBX18 EXON Missense_N368H exm2277330 6 85457756 [A/C] NM_001080508 TBX18 EXON Missense_R274L exm564027 6 85457763 [T/C] NM_001080508 TBX18 EXON Missense_V272I exm564039 6 85469998 [A/C] NM_001080508 TBX18 EXON Missense_V192L exm564056 6 85473722 [T/C] NM_001080508 TBX18 EXON Missense_G60S exm564057 6 85473758 [T/C] NM_001080508 TBX18 EXON Missense_G48R exm564058 6 85473772 [A/G] NM_001080508 TBX18 EXON Missense_A43V exm2270353 6 85588632 [T/C] exm2266319 6 85795657 [A/G] exm-rs1321744 6 85891744 [T/C] exm564072 6 86159933 [T/G] NM_001204813,NM_002526 NT5E,NT5E EXON Missense_A26S,Missense_A26S exm564074 6 86160041 [T/G] NM_001204813,NM_002526 NT5E,NT5E EXON Missense_A62S,Missense_A62S exm564084 6 86176895 [G/C] NM_001204813,NM_002526 NT5E,NT5E EXON Missense_Q153E,Missense_Q153E exm564098 6 86195033 [A/G] NM_001204813,NM_002526 NT5E,NT5E EXON Missense_V278I,Missense_V278I exm564109 6 86197163 [T/C] NM_001204813,NM_002526 NT5E,NT5E EXON Missense_R354C,Missense_R354C exm564113 6 86199233 [A/G] NM_001204813,NM_002526 NT5E,NT5E EXON Missense_T376A,Missense_T376A exm564115 6 86199243 [T/C] NM_001204813,NM_002526 NT5E,NT5E EXON Missense_M379T,Missense_M379T exm564119 6 86199308 [T/C] NM_001204813,NM_002526 NT5E,NT5E EXON Missense_R401C,Missense_R401C exm564121 6 86199314 [A/C] NM_001204813,NM_002526 NT5E,NT5E EXON Missense_N403H,Missense_N403H exm2132153 6 86201876 [A/C] NM_001204813,NM_002526 NT5E,NT5E EXON Missense_E464D,Missense_E514D exm564137 6 86203585 [A/G] NM_001204813,NM_002526 NT5E,NT5E EXON Missense_T480A,Missense_T530A exm2270499 6 86221771 [T/C] NM_153816,NM_020468 SNX14,SNX14 Silent,Silent exm564159 6 86223935 [T/C] NM_153816,NM_020468 SNX14,SNX14 EXON Missense_V804I,Missense_V751I exm564164 6 86227481 [T/C] NM_153816,NM_020468 SNX14,SNX14 EXON Missense_N754S,Missense_N701S exm564166 6 86227566 [T/C] NM_153816,NM_020468 SNX14,SNX14 EXON Missense_M726V,Missense_M673V exm2257962 6 86228109 [A/G] NM_153816,NM_020468 SNX14,SNX14 Silent,Silent exm564184 6 86252925 [T/G] NM_153816,NM_020468 SNX14,SNX14 EXON Missense_T455N,Missense_T411N exm564190 6 86253397 [T/C] NM_153816,NM_020468 SNX14,SNX14 EXON Missense_Y397C,Missense_Y353C exm564193 6 86256830 [A/C] NM_153816,NM_020468 SNX14,SNX14 EXON Nonsense_E370X,Nonsense_E326X exm564194 6 86256863 [A/C] NM_153816,NM_020468 SNX14,SNX14 EXON Missense_A359S,Missense_A315S exm564205 6 86257229 [T/G] NM_153816,NM_020468 SNX14,SNX14 EXON Missense_S303R,Missense_S259R exm564209 6 86259555 [T/C] NM_153816,NM_020468 SNX14,SNX14 EXON Missense_Y226C,Missense_Y182C exm564221 6 86282026 [T/C] NM_153816,NM_020468 SNX14,SNX14 EXON Missense_K110E,Missense_K110E exm2244497 6 86282086 [T/C] NM_153816,NM_020468 SNX14,SNX14 EXON Missense_G90R,Missense_G90R exm564222 6 86282090 [A/C] NM_153816,NM_020468 SNX14,SNX14 EXON Missense_Q88H,Missense_Q88H exm564226 6 86284078 [A/C] NM_153816,NM_020468 SNX14,SNX14 EXON Missense_M53I,Missense_M53I exm564244 6 86324674 [A/C] NM_001159677,NM_001159674,NM_001253771,NM_001159676,NM_001159673,NM_001159675,NM_006372 SYNCRIP,SYNCRIP,SYNCRIP,SYNCRIP,SYNCRIP,SYNCRIP,SYNCRIP EXON Silent,Silent,Silent,Silent,Silent,Missense_G523C,Missense_G558C exm564250 6 86324793 [A/C] NM_001159677,NM_001159674,NM_001253771,NM_001159676,NM_001159673,NM_001159675,NM_006372 SYNCRIP,SYNCRIP,SYNCRIP,SYNCRIP,SYNCRIP,SYNCRIP,SYNCRIP EXON Missense_R518L,Missense_R483L,Missense_R366L,Missense_R518L,Missense_R420L,Missense_R483L,Missense_R518L exm564263 6 86328990 [A/G] NM_001159677,NM_001159674,NM_001253771,NM_001159676,NM_001159673,NM_001159675,NM_006372 SYNCRIP,SYNCRIP,SYNCRIP,SYNCRIP,SYNCRIP,SYNCRIP,SYNCRIP EXON Missense_V385A,Missense_V350A,Missense_V233A,Missense_V385A,Missense_V287A,Missense_V350A,Missense_V385A exm2257963 6 86329022 [T/C] NM_001159677,NM_001159674,NM_001253771,NM_001159676,NM_001159673,NM_001159675,NM_006372 SYNCRIP,SYNCRIP,SYNCRIP,SYNCRIP,SYNCRIP,SYNCRIP,SYNCRIP EXON Synonymous_A374A,Synonymous_A339A,Synonymous_A222A,Synonymous_A374A,Synonymous_A276A,Synonymous_A339A,Synonymous_A374A exm2266227 6 86478737 [A/G] exm-rs1577917 6 86691940 [T/C] exm2270354 6 87145378 [T/C] exm-rs493187 6 87466492 [A/G] exm2270355 6 87500445 [T/C] exm2264206 6 87531746 [A/C] exm2277331 6 87725295 [T/C] NM_000865 HTR1E EXON Synonymous_I81I exm2257966 6 87725340 [A/G] NM_000865 HTR1E EXON Synonymous_E96E exm564311 6 87725340 [A/G] NM_000865 HTR1E EXON Synonymous_E96E exm564316 6 87725456 [T/C] NM_000865 HTR1E EXON Missense_T135M exm564319 6 87725515 [A/G] NM_000865 HTR1E EXON Missense_M155V exm564327 6 87725674 [A/G] NM_000865 HTR1E EXON Missense_A208T exm564332 6 87725837 [T/C] NM_000865 HTR1E EXON Missense_S262F exm2132263 6 87725852 [A/C] NM_000865 HTR1E EXON Missense_P267H exm-rs1925690 6 87867063 [T/C] NM_015021 ZNF292 Silent exm564377 6 87953322 [T/G] NM_015021 ZNF292 EXON Missense_C291G exm564393 6 87964846 [T/G] NM_015021 ZNF292 EXON Missense_G500V exm564422 6 87966037 [T/C] NM_015021 ZNF292 EXON Missense_S897L exm564424 6 87966093 [T/C] NM_015021 ZNF292 EXON Missense_P916S exm564429 6 87966277 [T/C] NM_015021 ZNF292 EXON Missense_T977I exm564431 6 87966324 [A/G] NM_015021 ZNF292 EXON Missense_D993N exm564441 6 87966523 [A/G] NM_015021 ZNF292 EXON Missense_N1059S exm564443 6 87966537 [T/C] NM_015021 ZNF292 EXON Missense_P1064S exm564458 6 87966936 [C/G] NM_015021 ZNF292 EXON Missense_A1197P exm564461 6 87967014 [C/G] NM_015021 ZNF292 EXON Missense_Q1223E exm564462 6 87967028 [A/C] NM_015021 ZNF292 EXON Missense_L1227F exm564473 6 87967405 [A/G] NM_015021 ZNF292 EXON Missense_G1353E exm564483 6 87967636 [A/G] NM_015021 ZNF292 EXON Missense_N1430S exm564497 6 87967924 [T/C] NM_015021 ZNF292 EXON Missense_T1526M exm564499 6 87967932 [A/C] NM_015021 ZNF292 EXON Missense_P1529T exm564502 6 87968005 [T/C] NM_015021 ZNF292 EXON Missense_T1553M exm564507 6 87968085 [A/G] NM_015021 ZNF292 EXON Missense_V1580I exm2132313 6 87968092 [A/G] NM_015021 ZNF292 EXON Missense_N1582S exm564511 6 87968181 [T/C] NM_015021 ZNF292 EXON Missense_P1612S exm2257967 6 87968243 [A/G] NM_015021 ZNF292 EXON Synonymous_K1632K exm564513 6 87968243 [A/G] NM_015021 ZNF292 EXON Synonymous_K1632K exm564515 6 87968265 [C/G] NM_015021 ZNF292 EXON Missense_A1640P exm564517 6 87968289 [A/G] NM_015021 ZNF292 EXON Missense_V1648I exm564520 6 87968328 [A/G] NM_015021 ZNF292 EXON Missense_S1661G exm2257968 6 87968558 [A/G] NM_015021 ZNF292 EXON Synonymous_T1737T exm564525 6 87968565 [A/G] NM_015021 ZNF292 EXON Missense_I1740V exm564530 6 87968677 [T/C] NM_015021 ZNF292 EXON Missense_S1777F exm564537 6 87968779 [T/C] NM_015021 ZNF292 EXON Missense_P1811L exm564553 6 87969321 [T/C] NM_015021 ZNF292 EXON Missense_S1992P exm564554 6 87969340 [T/C] NM_015021 ZNF292 EXON Missense_P1998L exm564557 6 87969411 [T/G] NM_015021 ZNF292 EXON Missense_A2022S exm564561 6 87969480 [A/G] NM_015021 ZNF292 EXON Missense_V2045I exm2244504 6 87969561 [T/C] NM_015021 ZNF292 EXON Missense_L2072F exm564566 6 87969612 [A/C] NM_015021 ZNF292 EXON Missense_K2089Q exm2132324 6 87969636 [A/C] NM_015021 ZNF292 EXON Missense_P2097T exm564568 6 87969649 [T/C] NM_015021 ZNF292 EXON Missense_S2101F exm564575 6 87970019 [A/C] NM_015021 ZNF292 EXON Missense_K2224N exm564582 6 87970155 [T/C] NM_015021 ZNF292 EXON Missense_R2270W exm564586 6 87970251 [A/G] NM_015021 ZNF292 EXON Missense_M2302V exm564588 6 87970293 [T/C] NM_015021 ZNF292 EXON Missense_R2316W exm2132332 6 87970485 [A/G] NM_015021 ZNF292 EXON Missense_S2380G exm564594 6 87970615 [T/A] NM_015021 ZNF292 EXON Missense_L2423H exm564596 6 87970633 [A/G] NM_015021 ZNF292 EXON Missense_R2429Q exm564597 6 87970647 [G/C] NM_015021 ZNF292 EXON Missense_Q2434E exm564598 6 87970650 [A/G] NM_015021 ZNF292 EXON Missense_V2435I exm564599 6 87970663 [G/C] NM_015021 ZNF292 EXON Missense_S2439C exm564601 6 87970734 [A/G] NM_015021 ZNF292 EXON Missense_R2463G exm564609 6 87971020 [T/C] NM_015021 ZNF292 EXON Missense_L2558S exm564611 6 87971068 [T/C] NM_015021 ZNF292 EXON Missense_I2574T exm564616 6 87971275 [A/G] NM_015021 ZNF292 EXON Missense_C2643Y exm564617 6 87971281 [G/C] NM_015021 ZNF292 EXON Missense_C2645S exm564619 6 87971491 [T/G] NM_015021 ZNF292 EXON Missense_G2715V exm564622 6 87994015 [A/G] NM_198568 GJB7 EXON Missense_F206L exm564626 6 87994101 [A/G] NM_198568 GJB7 EXON Missense_T177M exm564629 6 87994188 [C/G] NM_198568 GJB7 EXON Missense_G148A exm564635 6 87994306 [A/G] NM_198568 GJB7 EXON Missense_L109F exm564639 6 87994382 [T/C] NM_198568 GJB7 EXON Missense_M83I exm564640 6 87994407 [C/G] NM_198568 GJB7 EXON Missense_R75T exm564642 6 87994481 [C/G] NM_198568 GJB7 EXON Missense_E50D exm564645 6 87994504 [T/C] NM_198568 GJB7 EXON Missense_V43M exm564647 6 87994537 [A/G] NM_198568 GJB7 EXON Missense_R32C exm564648 6 87994545 [A/C] NM_198568 GJB7 EXON Missense_F29C exm-IND6-88051311 6 87994593 [D/I] NM_198568 GJB7 EXON exm564654 6 87994617 [A/G] NM_198568 GJB7 EXON Missense_F5S exm2266228 6 88021118 [A/G] NM_198568 GJB7 Silent exm564667 6 88049846 [A/G] NM_020425,NM_001042493 SMIM8,SMIM8 EXON Missense_M50V,Missense_M50V exm564669 6 88049883 [T/C] NM_020425,NM_001042493 SMIM8,SMIM8 EXON Missense_A62V,Missense_A62V exm564670 6 88049885 [T/C] NM_020425,NM_001042493 SMIM8,SMIM8 EXON Missense_Y63H,Missense_Y63H exm2132354 6 88049888 [A/T] NM_020425,NM_001042493 SMIM8,SMIM8 EXON Missense_I64F,Missense_I64F exm564673 6 88049970 [A/G] NM_020425,NM_001042493 SMIM8,SMIM8 EXON Missense_R91Q,Missense_R91Q exm564678 6 88054939 [A/G] NM_001010868 C6orf163 EXON Missense_R41H exm564679 6 88054950 [T/C] NM_001010868 C6orf163 EXON Missense_H45Y exm564681 6 88058575 [T/A] NM_001010868 C6orf163 EXON Missense_D65V exm564682 6 88058596 [T/C] NM_001010868 C6orf163 EXON Missense_A72V exm564691 6 88074792 [T/C] NM_001010868 C6orf163 EXON Missense_I223T exm564703 6 88119600 [T/C] NM_001031743 C6orf165 EXON Nonsense_R15X exm564709 6 88123532 [A/G] NM_001031743 C6orf165 EXON Missense_C66Y exm564712 6 88123549 [A/G] NM_001031743 C6orf165 EXON Missense_D72N exm2132360 6 88123609 [A/G] NM_001031743 C6orf165 EXON Missense_T92A exm564717 6 88123610 [T/C] NM_001031743 C6orf165 EXON Missense_T92M exm564722 6 88125455 [T/C] NM_001031743 C6orf165 EXON Missense_V112A exm564723 6 88125461 [A/G] NM_001031743 C6orf165 EXON Missense_R114Q exm564724 6 88125473 [A/G] NM_001031743 C6orf165 EXON Missense_D118G exm564725 6 88125541 [T/C] NM_001031743 C6orf165 EXON Missense_R141C exm564726 6 88125542 [A/G] NM_001031743 C6orf165 EXON Missense_R141H exm2132362 6 88125562 [A/G] NM_001031743 C6orf165 EXON Missense_T148A exm564728 6 88125581 [A/G] NM_001031743 C6orf165 EXON Missense_R154K exm564740 6 88127995 [A/G] NM_001031743 C6orf165 EXON Missense_R234Q exm564742 6 88128009 [T/C] NM_001031743 C6orf165 EXON Missense_R239C exm564747 6 88128097 [A/G] NM_001031743 C6orf165 EXON Missense_N268S exm564752 6 88136331 [A/T] NM_001031743 C6orf165 EXON Missense_S310T exm564761 6 88138466 [T/G] NM_001031743 C6orf165 EXON Missense_F361L exm564764 6 88140811 [A/C] NM_001031743 C6orf165 EXON Missense_A407E exm564766 6 88140844 [T/G] NM_001031743 C6orf165 EXON Missense_G418V exm564769 6 88144670 [T/C] NM_001031743 C6orf165 EXON Missense_H465Y exm564774 6 88170801 [T/C] NM_001031743 C6orf165 EXON Missense_T519M exm564775 6 88170802 [A/G] NM_001031743 C6orf165 EXON Synonymous_T519T exm2257971 6 88170802 [A/G] NM_001031743 C6orf165 EXON Synonymous_T519T exm564780 6 88173747 [T/C] NM_001031743 C6orf165 EXON Missense_R550C exm564781 6 88173748 [A/G] NM_001031743 C6orf165 EXON Missense_R550H exm564785 6 88173849 [A/T] NM_001031743 C6orf165 EXON Missense_R584W exm564786 6 88173900 [T/C] NM_001031743 C6orf165 EXON Missense_R601C exm564788 6 88173958 [A/G] NM_001031743 C6orf165 EXON Missense_D620G exm564789 6 88173960 [A/G] NM_001031743 C6orf165 EXON Missense_E621K exm564794 6 88187082 [A/C] NM_006416,NM_001168398 SLC35A1,SLC35A1 EXON Missense_N7H,Missense_N7H exm564797 6 88187196 [A/G] NM_006416,NM_001168398 SLC35A1,SLC35A1 EXON Missense_T45A,Missense_T45A exm564809 6 88216104 [A/G] NM_006416,NM_001168398 SLC35A1,SLC35A1 EXON Missense_E171G,Missense_E171G exm564830 6 88221192 [T/C] NM_006416,NM_001168398 SLC35A1,SLC35A1 EXON Missense_T321I,Missense_T262I exm564841 6 88224688 [A/G] NM_020320 RARS2 EXON Missense_P546L exm564848 6 88227906 [T/C] NM_020320 RARS2 EXON Missense_I498V exm564853 6 88228397 [A/G] NM_020320 RARS2 EXON Missense_R456C exm564854 6 88228400 [T/C] NM_020320 RARS2 EXON Missense_S455G exm564868 6 88229382 [A/G] NM_020320 RARS2 EXON Nonsense_R386X exm564879 6 88231226 [T/C] NM_020320 RARS2 EXON Missense_I331V exm564886 6 88234306 [A/G] NM_020320 RARS2 EXON Nonsense_R315X exm564892 6 88239266 [T/C] NM_020320 RARS2 EXON Missense_K291R exm2132412 6 88239320 [A/C] NM_020320 RARS2 EXON Missense_R273L exm564903 6 88240570 [T/C] NM_020320 RARS2 EXON Missense_V235M exm564914 6 88258318 [T/C] NM_020320 RARS2 EXON Missense_T148A exm564926 6 88273906 [T/A] NM_020320 RARS2 EXON Missense_K52I exm564936 6 88299641 [T/C] NM_020320 RARS2 EXON Missense_Q12R exm564955 6 88304122 [A/G] NM_001197259,NM_012381,NM_181837 ORC3,ORC3,ORC3 EXON Silent,Missense_I26V,Missense_I26V exm564970 6 88313204 [A/C] NM_001197259,NM_012381,NM_181837 ORC3,ORC3,ORC3 EXON Silent,Missense_Q94K,Missense_Q94K exm564973 6 88315641 [T/A] NM_001197259,NM_012381,NM_181837 ORC3,ORC3,ORC3 EXON Silent,Missense_N110I,Missense_N110I exm564976 6 88315689 [A/G] NM_001197259,NM_012381,NM_181837 ORC3,ORC3,ORC3 EXON Silent,Missense_Q126R,Missense_Q126R exm564979 6 88315731 [A/G] NM_001197259,NM_012381,NM_181837 ORC3,ORC3,ORC3 EXON Silent,Missense_D140G,Missense_D140G exm564984 6 88317390 [A/G] NM_001197259,NM_012381,NM_181837 ORC3,ORC3,ORC3 Silent,Silent,Silent exm564990 6 88317511 [T/C] NM_001197259,NM_012381,NM_181837 ORC3,ORC3,ORC3 EXON Missense_S40L,Missense_S183L,Missense_S183L exm564995 6 88318883 [A/G] NM_001197259,NM_012381,NM_181837 ORC3,ORC3,ORC3 EXON Missense_V74I,Missense_V217I,Missense_V217I exm564997 6 88321832 [A/G] NM_001197259,NM_012381,NM_181837 ORC3,ORC3,ORC3 EXON Missense_I104V,Missense_I247V,Missense_I247V exm564998 6 88321875 [A/G] NM_001197259,NM_012381,NM_181837 ORC3,ORC3,ORC3 EXON Missense_R118Q,Missense_R261Q,Missense_R261Q exm565002 6 88321953 [T/C] NM_001197259,NM_012381,NM_181837 ORC3,ORC3,ORC3 EXON Missense_T144M,Missense_T287M,Missense_T287M exm565009 6 88326105 [A/G] NM_001197259,NM_012381,NM_181837 ORC3,ORC3,ORC3 EXON Missense_Y173C,Missense_Y316C,Missense_Y316C exm565010 6 88326126 [A/C] NM_001197259,NM_012381,NM_181837 ORC3,ORC3,ORC3 EXON Missense_N180T,Missense_N323T,Missense_N323T exm2244516 6 88331078 [G/C] NM_001197259,NM_012381,NM_181837 ORC3,ORC3,ORC3 EXON Missense_L189V,Missense_L332V,Missense_L332V exm565020 6 88346164 [T/C] NM_001197259,NM_012381,NM_181837 ORC3,ORC3,ORC3 EXON Missense_W305R,Missense_W448R,Missense_W448R exm565022 6 88346196 [T/G] NM_001197259,NM_012381,NM_181837 ORC3,ORC3,ORC3 EXON Missense_Q315H,Missense_Q458H,Missense_Q458H exm565023 6 88362850 [T/G] NM_001197259,NM_012381,NM_181837 ORC3,ORC3,ORC3 EXON Nonsense_E324X,Nonsense_E467X,Nonsense_E467X exm565031 6 88366656 [T/C] NM_001197259,NM_012381,NM_181837 ORC3,ORC3,ORC3 EXON Nonsense_Q374X,Nonsense_Q517X,Nonsense_Q518X exm565041 6 88372813 [T/C] NM_001197259,NM_012381,NM_181837 ORC3,ORC3,ORC3 EXON Missense_P452L,Missense_P595L,Missense_P596L exm565044 6 88374486 [T/G] NM_001197259,NM_012381,NM_181837 ORC3,ORC3,ORC3 EXON Missense_G477V,Missense_G620V,Missense_G621V exm565049 6 88375520 [A/G] NM_001197259,NM_012381,NM_181837 ORC3,ORC3,ORC3 EXON Missense_A524T,Missense_A667T,Missense_A668T exm565050 6 88376741 [A/G] NM_001197259,NM_012381,NM_181837 ORC3,ORC3,ORC3 EXON Missense_R536Q,Missense_R679Q,Missense_R680Q exm565061 6 88385579 [A/G] NM_018064 AKIRIN2 EXON Synonymous_S200S exm565067 6 88387600 [G/C] NM_018064 AKIRIN2 EXON Missense_L155F exm565074 6 88391392 [A/G] NM_018064 AKIRIN2 EXON Missense_C109R exm2270356 6 88534879 [T/G] exm2262186 6 88541622 [A/G] exm-rs2509458 6 88652580 [T/C] exm-rs366676 6 88717766 [A/G] exm565081 6 88757649 [T/C] NM_030960 SPACA1 EXON Missense_S9F exm565094 6 88763673 [A/G] NM_030960 SPACA1 EXON Missense_R73K exm565105 6 88768503 [A/G] NM_030960 SPACA1 EXON Missense_R146H exm565108 6 88769232 [T/C] NM_030960 SPACA1 EXON Missense_L179S exm565142 6 88853738 [T/G] NM_016083,NM_001160226,NM_001160259,NM_001160258,NM_033181 CNR1,CNR1,CNR1,CNR1,CNR1 EXON Missense_A419E,Missense_A419E,Missense_A419E,Missense_A419E,Missense_A386E exm565177 6 88854717 [T/C] NM_016083,NM_001160226,NM_001160259,NM_001160258,NM_033181 CNR1,CNR1,CNR1,CNR1,CNR1 EXON Missense_E93K,Missense_E93K,Missense_E93K,Missense_E93K,Missense_E60K exm-rs16880441 6 88975977 [G/C] exm-rs10485165 6 89112817 [T/C] exm2270357 6 89162999 [T/C] exm-rs12527253 6 89293745 [A/G] exm565197 6 89322504 [A/C] NM_003800 RNGTT EXON Missense_H576Q exm565198 6 89322506 [A/G] NM_003800 RNGTT EXON Missense_H576Y exm565206 6 89324114 [A/C] NM_003800 RNGTT EXON Missense_V503L exm2262187 6 89360837 [A/C] NM_003800 RNGTT Silent exm565218 6 89554137 [T/C] NM_003800 RNGTT EXON Missense_K403R exm565230 6 89601534 [T/C] NM_003800 RNGTT EXON Missense_G262D exm-rs12201676 6 89732101 [T/C] exm565269 6 89790656 [T/G] NM_006813 PNRC1 EXON Missense_G15C exm2257974 6 89790730 [A/G] NM_006813 PNRC1 EXON Synonymous_P39P exm565296 6 89793686 [T/C] NM_006813 PNRC1 EXON Missense_P252L exm565304 6 89793839 [A/G] NM_006813 PNRC1 EXON Missense_S303N exm565312 6 89808350 [C/G] NM_080743 SRSF12 EXON Missense_H245D exm565313 6 89808355 [T/C] NM_080743 SRSF12 EXON Missense_H243R exm565318 6 89808490 [T/C] NM_080743 SRSF12 EXON Missense_S198N exm565322 6 89808646 [A/G] NM_080743 SRSF12 EXON Missense_S146F exm565324 6 89808658 [T/G] NM_080743 SRSF12 EXON Missense_H142P exm565342 6 89855898 [A/G] NM_001010853 PM20D2 EXON Missense_G12D exm565347 6 89855957 [G/C] NM_001010853 PM20D2 EXON Missense_D32H exm565377 6 89868078 [A/G] NM_001010853 PM20D2 EXON Missense_N316S exm565382 6 89868128 [A/G] NM_001010853 PM20D2 EXON Missense_K333E exm2257975 6 89871524 [T/A] NM_001010853 PM20D2 EXON Synonymous_V357V exm565390 6 89871861 [T/C] NM_001010853 PM20D2 EXON Missense_T397M exm2132573 6 89871937 [T/A] NM_001010853 PM20D2 EXON Missense_F422L exm2132576 6 89888668 [T/C] NM_002042,NM_001256704,NM_001256703,NM_001267582 GABRR1,GABRR1,GABRR1,GABRR1 EXON Missense_D421N,Missense_D334N,Missense_D404N,Missense_D334N exm565408 6 89888708 [T/A] NM_002042,NM_001256704,NM_001256703,NM_001267582 GABRR1,GABRR1,GABRR1,GABRR1 EXON Missense_N407K,Missense_N320K,Missense_N390K,Missense_N320K exm2270358 6 89888744 [T/C] NM_002042,NM_001256704,NM_001256703,NM_001267582 GABRR1,GABRR1,GABRR1,GABRR1 EXON Synonymous_A395A,Synonymous_A308A,Synonymous_A378A,Synonymous_A308A exm2132578 6 89888752 [A/G] NM_002042,NM_001256704,NM_001256703,NM_001267582 GABRR1,GABRR1,GABRR1,GABRR1 EXON Missense_R393C,Missense_R306C,Missense_R376C,Missense_R306C exm565413 6 89888778 [A/G] NM_002042,NM_001256704,NM_001256703,NM_001267582 GABRR1,GABRR1,GABRR1,GABRR1 EXON Missense_P384L,Missense_P297L,Missense_P367L,Missense_P297L exm565414 6 89888779 [A/G] NM_002042,NM_001256704,NM_001256703,NM_001267582 GABRR1,GABRR1,GABRR1,GABRR1 EXON Missense_P384S,Missense_P297S,Missense_P367S,Missense_P297S exm565444 6 89899914 [T/C] NM_002042,NM_001256704,NM_001256703,NM_001267582 GABRR1,GABRR1,GABRR1,GABRR1 EXON Missense_T209A,Missense_T122A,Missense_T192A,Missense_T122A exm565451 6 89907818 [A/G] NM_002042,NM_001256704,NM_001256703,NM_001267582 GABRR1,GABRR1,GABRR1,GABRR1 EXON Missense_R165C,Missense_R78C,Missense_R148C,Missense_R78C exm565452 6 89907860 [T/G] NM_002042,NM_001256704,NM_001256703,NM_001267582 GABRR1,GABRR1,GABRR1,GABRR1 EXON Missense_K151Q,Missense_K64Q,Missense_K134Q,Missense_K64Q exm565455 6 89907883 [A/G] NM_002042,NM_001256704,NM_001256703,NM_001267582 GABRR1,GABRR1,GABRR1,GABRR1 EXON Missense_M143T,Missense_M56T,Missense_M126T,Missense_M56T exm2132597 6 89910949 [A/G] NM_002042,NM_001256704,NM_001256703,NM_001267582 GABRR1,GABRR1,GABRR1,GABRR1 EXON Missense_S70L,Silent,Missense_S53L,Silent exm565464 6 89910970 [T/C] NM_002042,NM_001256704,NM_001256703,NM_001267582 GABRR1,GABRR1,GABRR1,GABRR1 EXON Missense_R63Q,Silent,Missense_R46Q,Silent exm565473 6 89926962 [T/C] NM_002042,NM_001256704,NM_001256703,NM_001267582 GABRR1,GABRR1,GABRR1,GABRR1 EXON Missense_H27R,Silent,Missense_H27R,Silent exm565474 6 89926966 [T/C] NM_002042,NM_001256704,NM_001256703,NM_001267582 GABRR1,GABRR1,GABRR1,GABRR1 EXON Missense_M26V,Silent,Missense_M26V,Silent exm565481 6 89967411 [A/G] NM_002043 GABRR2 EXON Missense_I459T exm565482 6 89967417 [T/C] NM_002043 GABRR2 EXON Missense_N457S exm565485 6 89967489 [T/C] NM_002043 GABRR2 EXON Missense_R433H exm565486 6 89967498 [A/G] NM_002043 GABRR2 EXON Missense_T430M exm565491 6 89967675 [T/C] NM_002043 GABRR2 EXON Missense_H371R exm565495 6 89974162 [T/C] NM_002043 GABRR2 EXON Missense_Q352R exm565509 6 89974304 [T/A] NM_002043 GABRR2 EXON Missense_T305S exm565511 6 89975332 [A/C] NM_002043 GABRR2 EXON Missense_G297C exm565512 6 89975361 [T/C] NM_002043 GABRR2 EXON Missense_R287H exm565513 6 89975365 [T/C] NM_002043 GABRR2 EXON Missense_D286N exm565520 6 89975412 [A/G] NM_002043 GABRR2 EXON Missense_F270S exm565521 6 89975446 [A/G] NM_002043 GABRR2 EXON Missense_R259C exm565523 6 89975464 [T/C] NM_002043 GABRR2 EXON Missense_I253V exm565527 6 89977454 [T/G] NM_002043 GABRR2 EXON Missense_Q227P exm2132620 6 89977789 [A/C] NM_002043 GABRR2 EXON Missense_M180R exm565538 6 89978866 [T/C] NM_002043 GABRR2 EXON Missense_D126N exm565540 6 89981399 [A/G] NM_002043 GABRR2 EXON Missense_L88P exm2257977 6 89981422 [A/G] NM_002043 GABRR2 EXON Synonymous_G80G exm565553 6 90009546 [T/C] NM_002043 GABRR2 EXON Missense_R51Q exm565554 6 90009547 [A/G] NM_002043 GABRR2 EXON Missense_R51W exm565565 6 90024862 [A/G] NM_002043 GABRR2 EXON Missense_I8T exm2262188 6 90026797 [A/G] exm2132645 6 90039532 [A/G] NM_016021 UBE2J1 EXON Missense_H275Y exm565576 6 90039588 [T/C] NM_016021 UBE2J1 EXON Missense_R256Q exm565585 6 90039669 [A/C] NM_016021 UBE2J1 EXON Missense_L229R exm565586 6 90039670 [C/G] NM_016021 UBE2J1 EXON Missense_L229V exm565593 6 90042914 [T/C] NM_016021 UBE2J1 EXON Missense_N190S exm565597 6 90045050 [T/C] NM_016021 UBE2J1 EXON Missense_K177E exm565620 6 90082231 [T/C] NM_021244 RRAGD EXON Missense_V326M exm565626 6 90089935 [T/C] NM_021244 RRAGD EXON Missense_R199K exm565653 6 90276733 [A/G] NM_014942,NM_001242809,NM_001242813,NM_001242811,NM_001242814 ANKRD6,ANKRD6,ANKRD6,ANKRD6,ANKRD6 EXON Missense_R13H,Missense_R13H,Missense_R13H,Missense_R13H,Missense_R13H exm2266229 6 90296588 [A/G] NM_014942,NM_001242809,NM_001242813,NM_001242811,NM_001242814 ANKRD6,ANKRD6,ANKRD6,ANKRD6,ANKRD6 Silent,Silent,Silent,Silent,Silent exm2132672 6 90312803 [T/C] NM_014942,NM_001242809,NM_001242813,NM_001242811,NM_001242814 ANKRD6,ANKRD6,ANKRD6,ANKRD6,ANKRD6 EXON Missense_A92V,Missense_A92V,Missense_A92V,Missense_A92V,Missense_A92V exm565666 6 90315771 [G/C] NM_014942,NM_001242809,NM_001242813,NM_001242811,NM_001242814 ANKRD6,ANKRD6,ANKRD6,ANKRD6,ANKRD6 EXON Missense_Q122E,Missense_Q122E,Missense_Q122E,Missense_Q122E,Silent exm565669 6 90315789 [A/G] NM_014942,NM_001242809,NM_001242813,NM_001242811,NM_001242814 ANKRD6,ANKRD6,ANKRD6,ANKRD6,ANKRD6 EXON Missense_I128V,Missense_I128V,Missense_I128V,Missense_I128V,Silent exm565676 6 90322078 [T/C] NM_014942,NM_001242809,NM_001242813,NM_001242811,NM_001242814 ANKRD6,ANKRD6,ANKRD6,ANKRD6,ANKRD6 EXON Missense_L169F,Missense_L169F,Missense_L169F,Missense_L169F,Missense_L136F exm565686 6 90326360 [T/C] NM_014942,NM_001242809,NM_001242813,NM_001242811,NM_001242814 ANKRD6,ANKRD6,ANKRD6,ANKRD6,ANKRD6 EXON Missense_T233M,Missense_T233M,Missense_T233M,Missense_T233M,Missense_T200M exm565698 6 90333161 [T/A] NM_014942,NM_001242809,NM_001242813,NM_001242811,NM_001242814 ANKRD6,ANKRD6,ANKRD6,ANKRD6,ANKRD6 EXON Missense_S310R,Missense_S310R,Missense_S275R,Missense_S310R,Missense_S251R exm565703 6 90333624 [A/G] NM_014942,NM_001242809,NM_001242813,NM_001242811,NM_001242814 ANKRD6,ANKRD6,ANKRD6,ANKRD6,ANKRD6 EXON Missense_D356N,Missense_D356N,Missense_D321N,Missense_D356N,Missense_D297N exm565718 6 90334363 [A/C] NM_014942,NM_001242809,NM_001242813,NM_001242811,NM_001242814 ANKRD6,ANKRD6,ANKRD6,ANKRD6,ANKRD6 EXON Missense_K442Q,Missense_K442Q,Missense_K407Q,Missense_K442Q,Missense_K383Q exm565719 6 90337302 [A/C] NM_014942,NM_001242809,NM_001242813,NM_001242811,NM_001242814 ANKRD6,ANKRD6,ANKRD6,ANKRD6,ANKRD6 EXON Missense_M458L,Missense_M458L,Missense_M423L,Missense_M458L,Missense_M399L exm565720 6 90337366 [A/G] NM_014942,NM_001242809,NM_001242813,NM_001242811,NM_001242814 ANKRD6,ANKRD6,ANKRD6,ANKRD6,ANKRD6 EXON Missense_R479H,Missense_R479H,Missense_R444H,Missense_R479H,Missense_R420H exm565722 6 90337400 [C/G] NM_014942,NM_001242809,NM_001242813,NM_001242811,NM_001242814 ANKRD6,ANKRD6,ANKRD6,ANKRD6,ANKRD6 EXON Missense_E490D,Missense_E490D,Missense_E455D,Missense_E490D,Missense_E431D exm565727 6 90338839 [C/G] NM_014942,NM_001242809,NM_001242813,NM_001242811,NM_001242814 ANKRD6,ANKRD6,ANKRD6,ANKRD6,ANKRD6 EXON Missense_L498F,Missense_L498F,Missense_L463F,Missense_L498F,Missense_L439F exm2132702 6 90338844 [T/A] NM_014942,NM_001242809,NM_001242813,NM_001242811,NM_001242814 ANKRD6,ANKRD6,ANKRD6,ANKRD6,ANKRD6 EXON Missense_D500V,Missense_D500V,Missense_D465V,Missense_D500V,Missense_D441V exm565732 6 90338912 [C/G] NM_014942,NM_001242809,NM_001242813,NM_001242811,NM_001242814 ANKRD6,ANKRD6,ANKRD6,ANKRD6,ANKRD6 EXON Missense_A523P,Missense_A523P,Missense_A488P,Missense_A523P,Missense_A464P exm565734 6 90340187 [A/G] NM_014942,NM_001242809,NM_001242813,NM_001242811,NM_001242814 ANKRD6,ANKRD6,ANKRD6,ANKRD6,ANKRD6 EXON Missense_A545T,Missense_A550T,Missense_A515T,Missense_A550T,Missense_A486T exm565745 6 90340434 [A/G] NM_014942,NM_001242809,NM_001242813,NM_001242811,NM_001242814 ANKRD6,ANKRD6,ANKRD6,ANKRD6,ANKRD6 EXON Missense_R627H,Missense_R632H,Missense_R597H,Missense_R632H,Missense_R568H exm565747 6 90340446 [T/C] NM_014942,NM_001242809,NM_001242813,NM_001242811,NM_001242814 ANKRD6,ANKRD6,ANKRD6,ANKRD6,ANKRD6 EXON Missense_P631L,Missense_P636L,Missense_P601L,Missense_P636L,Missense_P572L exm565749 6 90340454 [A/G] NM_014942,NM_001242809,NM_001242813,NM_001242811,NM_001242814 ANKRD6,ANKRD6,ANKRD6,ANKRD6,ANKRD6 EXON Missense_S634G,Missense_S639G,Missense_S604G,Missense_S639G,Missense_S575G exm565753 6 90340485 [C/G] NM_014942,NM_001242809,NM_001242813,NM_001242811,NM_001242814 ANKRD6,ANKRD6,ANKRD6,ANKRD6,ANKRD6 EXON Missense_T644R,Missense_T649R,Missense_T614R,Missense_T649R,Missense_T585R exm565767 6 90347511 [T/C] NR_028493,NR_028495,NM_020466,NR_028494 LYRM2,LYRM2,LYRM2,LYRM2 EXON Silent,Silent,Missense_K46E,Silent exm2132722 6 90354735 [A/C] NM_014611 MDN1 EXON Missense_R5534L exm565793 6 90354789 [A/G] NM_014611 MDN1 EXON Missense_A5516V exm565795 6 90354798 [A/T] NM_014611 MDN1 EXON Missense_V5513D exm565797 6 90354856 [C/G] NM_014611 MDN1 EXON Missense_V5494L exm2244530 6 90357756 [T/C] NM_014611 MDN1 EXON Missense_A5464T exm565807 6 90359817 [G/C] NM_014611 MDN1 EXON Missense_P5378A exm565812 6 90360505 [T/C] NM_014611 MDN1 EXON Missense_R5326Q exm565817 6 90360559 [A/G] NM_014611 MDN1 EXON Missense_V5308A exm565823 6 90362755 [T/C] NM_014611 MDN1 EXON Missense_T5261A exm2132734 6 90362757 [C/G] NM_014611 MDN1 EXON Missense_S5260C exm565825 6 90362783 [A/C] NM_014611 MDN1 EXON Missense_N5251K exm565826 6 90362818 [G/C] NM_014611 MDN1 EXON Missense_P5240A exm565830 6 90362838 [T/C] NM_014611 MDN1 EXON Missense_K5233R exm565844 6 90365671 [A/G] NM_014611 MDN1 EXON Missense_P5101L exm565849 6 90366471 [A/G] NM_014611 MDN1 EXON Missense_S5078L exm565856 6 90368013 [G/C] NM_014611 MDN1 EXON Missense_C5033S exm565859 6 90368348 [T/A] NM_014611 MDN1 EXON Missense_D5001V exm565864 6 90368431 [T/A] NM_014611 MDN1 EXON Missense_E4973D exm565868 6 90368573 [T/C] NM_014611 MDN1 EXON Missense_G4926E exm565875 6 90371215 [T/C] NM_014611 MDN1 EXON Missense_D4883G exm565881 6 90371847 [G/C] NM_014611 MDN1 EXON Missense_G4842R exm565890 6 90372574 [A/C] NM_014611 MDN1 EXON Missense_D4783E exm565891 6 90372634 [G/C] NM_014611 MDN1 EXON Missense_M4763I exm565895 6 90374283 [A/G] NM_014611 MDN1 EXON Missense_I4720T exm565897 6 90377758 [T/C] NM_014611 MDN1 EXON Missense_S4690N exm565902 6 90377845 [A/G] NM_014611 MDN1 EXON Missense_M4661T exm2132759 6 90380696 [T/C] NM_014611 MDN1 EXON Missense_R4633H exm565911 6 90380781 [A/C] NM_014611 MDN1 EXON Missense_S4605A exm565917 6 90382002 [T/C] NM_014611 MDN1 EXON Missense_V4571M exm565922 6 90382295 [G/C] NM_014611 MDN1 EXON Missense_T4534S exm565936 6 90383869 [T/C] NM_014611 MDN1 EXON Missense_V4401I exm565940 6 90383916 [A/G] NM_014611 MDN1 EXON Missense_T4385M exm565946 6 90384082 [A/G] NM_014611 MDN1 EXON Missense_P4330S exm565951 6 90384257 [A/C] NM_014611 MDN1 EXON Missense_Q4271H exm565954 6 90384274 [T/C] NM_014611 MDN1 EXON Missense_R4266G exm565962 6 90385280 [T/C] NM_014611 MDN1 EXON Missense_V4222M exm565964 6 90385906 [A/G] NM_014611 MDN1 EXON Missense_S4187F exm565969 6 90387329 [T/C] NM_014611 MDN1 EXON Missense_A4167T exm565970 6 90387382 [T/C] NM_014611 MDN1 EXON Missense_R4149H exm565974 6 90388373 [A/C] NM_014611 MDN1 EXON Missense_I4119M exm565976 6 90388444 [T/C] NM_014611 MDN1 EXON Missense_S4096G exm565979 6 90390386 [A/G] NM_014611 MDN1 EXON Missense_R4063C exm2257979 6 90397143 [A/G] NM_014611 MDN1 EXON Synonymous_N3790N exm2132802 6 90397875 [C/G] NM_014611 MDN1 EXON Missense_D3759E exm2132810 6 90399646 [A/G] NM_014611 MDN1 EXON Missense_F3656L exm566038 6 90399678 [A/G] NM_014611 MDN1 EXON Missense_P3645L exm566042 6 90399799 [T/C] NM_014611 MDN1 EXON Missense_E3605K exm566043 6 90399835 [T/C] NM_014611 MDN1 EXON Missense_T3593A exm566063 6 90402482 [A/G] NM_014611 MDN1 EXON Missense_H3423Y exm566073 6 90402844 [T/C] NM_014611 MDN1 EXON Missense_R3302Q exm566075 6 90402859 [T/C] NM_014611 MDN1 EXON Missense_R3297H exm566076 6 90402872 [T/C] NM_014611 MDN1 EXON Missense_V3293I exm566080 6 90403824 [T/C] NM_014611 MDN1 EXON Missense_V3284I exm566081 6 90403833 [C/G] NM_014611 MDN1 EXON Missense_E3281Q exm566092 6 90405377 [A/G] NM_014611 MDN1 EXON Missense_R3240C exm566102 6 90405571 [T/G] NM_014611 MDN1 EXON Missense_H3175P exm566103 6 90405631 [T/C] NM_014611 MDN1 EXON Missense_R3155Q exm566109 6 90405706 [A/G] NM_014611 MDN1 EXON Missense_T3130M exm566114 6 90406194 [T/C] NM_014611 MDN1 EXON Missense_I3090V exm566120 6 90408705 [A/G] NM_014611 MDN1 EXON Missense_M3016T exm566125 6 90409351 [T/C] NM_014611 MDN1 EXON Missense_R2989Q exm566127 6 90409402 [T/G] NM_014611 MDN1 EXON Missense_H2972P exm566158 6 90411777 [A/C] NM_014611 MDN1 EXON Missense_L2718V exm566160 6 90415785 [A/G] NM_014611 MDN1 EXON Missense_A2714V exm2244538 6 90415818 [T/G] NM_014611 MDN1 EXON Missense_Q2703P exm566163 6 90415894 [T/C] NM_014611 MDN1 EXON Missense_T2678A exm566164 6 90417084 [T/A] NM_014611 MDN1 EXON Missense_H2670Q exm566166 6 90417176 [A/G] NM_014611 MDN1 EXON Missense_R2640W exm2132855 6 90422320 [T/C] NM_014611 MDN1 EXON Missense_M2468I exm566185 6 90422360 [T/C] NM_014611 MDN1 EXON Missense_R2455Q exm566187 6 90422459 [T/C] NM_014611 MDN1 EXON Missense_H2422R exm566190 6 90422871 [T/C] NM_014611 MDN1 EXON Missense_R2405Q exm566191 6 90422928 [A/G] NM_014611 MDN1 EXON Missense_A2386V exm566194 6 90422980 [T/C] NM_014611 MDN1 EXON Missense_T2369A exm566197 6 90424391 [G/C] NM_014611 MDN1 EXON Missense_G2314R exm566199 6 90424435 [A/G] NM_014611 MDN1 EXON Missense_I2299T exm566201 6 90424459 [A/G] NM_014611 MDN1 EXON Missense_S2291L exm566204 6 90425390 [A/G] NM_014611 MDN1 EXON Missense_T2281I exm566211 6 90426501 [T/C] NM_014611 MDN1 EXON Missense_R2204Q exm566219 6 90428184 [T/C] NM_014611 MDN1 EXON Missense_G2162S exm566237 6 90428742 [T/C] NM_014611 MDN1 EXON Missense_Y2022C exm566240 6 90428904 [T/C] NM_014611 MDN1 EXON Missense_N2003S exm566250 6 90432767 [T/C] NM_014611 MDN1 EXON Missense_M1958I exm566254 6 90433299 [T/C] NM_014611 MDN1 EXON Missense_I1904V exm566263 6 90437650 [C/G] NM_014611 MDN1 EXON Missense_D1792H exm566269 6 90438790 [C/G] NM_014611 MDN1 EXON Missense_Q1737E exm566279 6 90442330 [T/C] NM_014611 MDN1 EXON Missense_V1630M exm566287 6 90448092 [T/C] NM_014611 MDN1 EXON Missense_S1559N exm566288 6 90448116 [T/C] NM_014611 MDN1 EXON Missense_R1551H exm566294 6 90450026 [T/A] NM_014611 MDN1 EXON Missense_E1507V exm566306 6 90453324 [A/G] NM_014611 MDN1 EXON Missense_R1430W exm566312 6 90455044 [A/C] NM_014611 MDN1 EXON Missense_V1376L exm566313 6 90455049 [A/G] NM_014611 MDN1 EXON Missense_M1374T exm566324 6 90457087 [T/C] NM_014611 MDN1 EXON Missense_E1289K exm566327 6 90457185 [T/C] NM_014611 MDN1 EXON Missense_Y1256C exm566329 6 90458979 [T/C] NM_014611 MDN1 EXON Missense_Y1242C exm566341 6 90459333 [A/C] NM_014611 MDN1 EXON Missense_V1182F exm566357 6 90460171 [T/C] NM_014611 MDN1 EXON Missense_N1103S exm566358 6 90460181 [T/C] NM_014611 MDN1 EXON Missense_A1100T exm566362 6 90461171 [A/G] NM_014611 MDN1 EXON Missense_I1069T exm566365 6 90461235 [T/C] NM_014611 MDN1 EXON Missense_K1048E exm566366 6 90461246 [A/G] NM_014611 MDN1 EXON Missense_A1044V exm566374 6 90463872 [T/C] NM_014611 MDN1 EXON Missense_R965Q exm566375 6 90463873 [A/G] NM_014611 MDN1 EXON Missense_R965W exm566380 6 90468537 [A/G] NM_014611 MDN1 EXON Missense_T868I exm566385 6 90471392 [T/G] NM_014611 MDN1 EXON Missense_E811A exm2276816 6 90471466 [C/G] NM_014611 MDN1 EXON Synonymous_G786G exm566402 6 90472241 [A/G] NM_014611 MDN1 EXON Missense_P718L exm566403 6 90481319 [T/C] NM_014611 MDN1 EXON Missense_N702S exm566404 6 90481334 [T/C] NM_014611 MDN1 EXON Missense_R697H exm566408 6 90482397 [T/C] NM_014611 MDN1 EXON Missense_I660V exm566416 6 90486354 [T/C] NM_014611 MDN1 EXON Missense_V596I exm566418 6 90486365 [T/G] NM_014611 MDN1 EXON Missense_K592T exm566422 6 90489962 [C/G] NM_014611 MDN1 EXON Missense_S565C exm566424 6 90491151 [A/C] NM_014611 MDN1 EXON Missense_R537I exm566436 6 90494813 [A/G] NM_014611 MDN1 EXON Missense_P456L exm566437 6 90494823 [A/G] NM_014611 MDN1 EXON Missense_W453R exm566440 6 90497589 [A/C] NM_014611 MDN1 EXON Missense_F440V exm566445 6 90499501 [T/C] NM_014611 MDN1 EXON Missense_V410M exm566453 6 90500011 [T/C] NM_014611 MDN1 EXON Missense_Q322R exm566456 6 90500117 [T/C] NM_014611 MDN1 EXON Missense_G287S exm566460 6 90503608 [A/G] NM_014611 MDN1 EXON Missense_S243F exm566462 6 90504414 [A/G] NM_014611 MDN1 EXON Missense_R146W exm566465 6 90504463 [C/G] NM_014611 MDN1 EXON Missense_E129D exm566468 6 90513051 [A/G] NM_014611 MDN1 EXON Missense_L109F exm566475 6 90513189 [A/G] NM_014611 MDN1 EXON Missense_R63C exm566478 6 90513254 [T/C] NM_014611 MDN1 EXON Missense_R41H exm566502 6 90572060 [T/C] NM_001137667,NM_001137668,NM_012115 CASP8AP2,CASP8AP2,CASP8AP2 EXON Missense_T211I,Missense_T211I,Missense_T211I exm566503 6 90572081 [T/G] NM_001137667,NM_001137668,NM_012115 CASP8AP2,CASP8AP2,CASP8AP2 EXON Missense_V218G,Missense_V218G,Missense_V218G exm566508 6 90572138 [A/G] NM_001137667,NM_001137668,NM_012115 CASP8AP2,CASP8AP2,CASP8AP2 EXON Missense_G237D,Missense_G237D,Missense_G237D exm566519 6 90572407 [A/C] NM_001137667,NM_001137668,NM_012115 CASP8AP2,CASP8AP2,CASP8AP2 EXON Missense_P327T,Missense_P327T,Missense_P327T exm566526 6 90572732 [T/C] NM_001137667,NM_001137668,NM_012115 CASP8AP2,CASP8AP2,CASP8AP2 EXON Missense_S435F,Missense_S435F,Missense_S435F exm566531 6 90572780 [T/C] NM_001137667,NM_001137668,NM_012115 CASP8AP2,CASP8AP2,CASP8AP2 EXON Missense_V451A,Missense_V451A,Missense_V451A exm566534 6 90572978 [G/C] NM_001137667,NM_001137668,NM_012115 CASP8AP2,CASP8AP2,CASP8AP2 EXON Missense_P517R,Missense_P517R,Missense_P517R exm566545 6 90573430 [A/G] NM_001137667,NM_001137668,NM_012115 CASP8AP2,CASP8AP2,CASP8AP2 EXON Missense_M668V,Missense_M668V,Missense_M668V exm566551 6 90573631 [A/G] NM_001137667,NM_001137668,NM_012115 CASP8AP2,CASP8AP2,CASP8AP2 EXON Missense_D735N,Missense_D735N,Missense_D735N exm566556 6 90573725 [T/C] NM_001137667,NM_001137668,NM_012115 CASP8AP2,CASP8AP2,CASP8AP2 EXON Missense_P766L,Missense_P766L,Missense_P766L exm566564 6 90574051 [A/C] NM_001137667,NM_001137668,NM_012115 CASP8AP2,CASP8AP2,CASP8AP2 EXON Missense_S875R,Missense_S875R,Missense_S875R exm566568 6 90575759 [T/A] NM_001137667,NM_001137668,NM_012115 CASP8AP2,CASP8AP2,CASP8AP2 EXON Missense_D917V,Missense_D917V,Missense_D917V exm566572 6 90575924 [A/G] NM_001137667,NM_001137668,NM_012115 CASP8AP2,CASP8AP2,CASP8AP2 EXON Missense_R972H,Missense_R972H,Missense_R972H exm566573 6 90575965 [A/T] NM_001137667,NM_001137668,NM_012115 CASP8AP2,CASP8AP2,CASP8AP2 EXON Missense_T986S,Missense_T986S,Missense_T986S exm566575 6 90576005 [A/G] NM_001137667,NM_001137668,NM_012115 CASP8AP2,CASP8AP2,CASP8AP2 EXON Missense_K999R,Missense_K999R,Missense_K999R exm566583 6 90576667 [T/G] NM_001137667,NM_001137668,NM_012115 CASP8AP2,CASP8AP2,CASP8AP2 EXON Missense_D1220Y,Missense_D1220Y,Missense_D1220Y exm566584 6 90576721 [A/T] NM_001137667,NM_001137668,NM_012115 CASP8AP2,CASP8AP2,CASP8AP2 EXON Missense_N1238Y,Missense_N1238Y,Missense_N1238Y exm2257980 6 90576723 [T/C] NM_001137667,NM_001137668,NM_012115 CASP8AP2,CASP8AP2,CASP8AP2 EXON Synonymous_N1238N,Synonymous_N1238N,Synonymous_N1238N exm566621 6 90577712 [A/C] NM_001137667,NM_001137668,NM_012115 CASP8AP2,CASP8AP2,CASP8AP2 EXON Missense_S1568Y,Missense_S1568Y,Missense_S1568Y exm566622 6 90577714 [T/G] NM_001137667,NM_001137668,NM_012115 CASP8AP2,CASP8AP2,CASP8AP2 EXON Missense_L1569V,Missense_L1569V,Missense_L1569V exm2132988 6 90577720 [T/A] NM_001137667,NM_001137668,NM_012115 CASP8AP2,CASP8AP2,CASP8AP2 EXON Nonsense_R1571X,Nonsense_R1571X,Nonsense_R1571X exm566628 6 90577723 [T/C] NM_001137667,NM_001137668,NM_012115 CASP8AP2,CASP8AP2,CASP8AP2 EXON Missense_H1572Y,Missense_H1572Y,Missense_H1572Y exm2132989 6 90577725 [A/T] NM_001137667,NM_001137668,NM_012115 CASP8AP2,CASP8AP2,CASP8AP2 EXON Missense_H1572Q,Missense_H1572Q,Missense_H1572Q exm2132991 6 90577727 [A/G] NM_001137667,NM_001137668,NM_012115 CASP8AP2,CASP8AP2,CASP8AP2 EXON Missense_G1573E,Missense_G1573E,Missense_G1573E exm566634 6 90577847 [A/G] NM_001137667,NM_001137668,NM_012115 CASP8AP2,CASP8AP2,CASP8AP2 EXON Missense_E1613G,Missense_E1613G,Missense_E1613G exm566635 6 90577876 [T/G] NM_001137667,NM_001137668,NM_012115 CASP8AP2,CASP8AP2,CASP8AP2 EXON Missense_V1623F,Missense_V1623F,Missense_V1623F exm566638 6 90577984 [T/C] NM_001137667,NM_001137668,NM_012115 CASP8AP2,CASP8AP2,CASP8AP2 EXON Missense_P1659S,Missense_P1659S,Missense_P1659S exm566642 6 90578147 [A/G] NM_001137667,NM_001137668,NM_012115 CASP8AP2,CASP8AP2,CASP8AP2 EXON Missense_C1713Y,Missense_C1713Y,Missense_C1713Y exm566646 6 90578215 [C/G] NM_001137667,NM_001137668,NM_012115 CASP8AP2,CASP8AP2,CASP8AP2 EXON Missense_A1736P,Missense_A1736P,Missense_A1736P exm566651 6 90578318 [A/G] NM_001137667,NM_001137668,NM_012115 CASP8AP2,CASP8AP2,CASP8AP2 EXON Missense_D1770G,Missense_D1770G,Missense_D1770G exm566659 6 90578524 [T/A] NM_001137667,NM_001137668,NM_012115 CASP8AP2,CASP8AP2,CASP8AP2 EXON Missense_I1839F,Missense_I1839F,Missense_I1839F exm566664 6 90578771 [A/G] NM_001137667,NM_001137668,NM_012115 CASP8AP2,CASP8AP2,CASP8AP2 EXON Missense_K1921R,Missense_K1921R,Missense_K1921R exm566689 6 90604599 [T/A] NM_032602 GJA10 EXON Missense_L138I exm566692 6 90604651 [A/G] NM_032602 GJA10 EXON Missense_R155H exm566695 6 90604692 [A/G] NM_032602 GJA10 EXON Missense_V169I exm566696 6 90604774 [A/G] NM_032602 GJA10 EXON Missense_N196S exm566697 6 90604777 [T/C] NM_032602 GJA10 EXON Missense_A197V exm566698 6 90604780 [T/G] NM_032602 GJA10 EXON Missense_V198G exm566715 6 90605159 [T/G] NM_032602 GJA10 EXON Missense_E324D exm566716 6 90605193 [A/G] NM_032602 GJA10 EXON Missense_S336G exm566721 6 90605217 [C/G] NM_032602 GJA10 EXON Missense_A344P exm566732 6 90605475 [A/G] NM_032602 GJA10 EXON Missense_A430T exm566733 6 90605494 [T/G] NM_032602 GJA10 EXON Missense_L436W exm566735 6 90605513 [A/T] NM_032602 GJA10 EXON Missense_H442Q exm566742 6 90605577 [A/G] NM_032602 GJA10 EXON Missense_E464K exm566746 6 90605664 [T/C] NM_032602 GJA10 EXON Nonsense_Q493X exm2273423 6 90641851 [T/C] NM_001170794,NM_021813 BACH2,BACH2 EXON Silent,Silent exm566757 6 90642195 [T/C] NM_001170794,NM_021813 BACH2,BACH2 EXON Missense_V820M,Missense_V820M exm566759 6 90642235 [G/C] NM_001170794,NM_021813 BACH2,BACH2 EXON Missense_E806D,Missense_E806D exm566761 6 90642251 [A/G] NM_001170794,NM_021813 BACH2,BACH2 EXON Missense_P801L,Missense_P801L exm566767 6 90642327 [T/G] NM_001170794,NM_021813 BACH2,BACH2 EXON Missense_P776T,Missense_P776T exm2133018 6 90642495 [T/G] NM_001170794,NM_021813 BACH2,BACH2 EXON Missense_P720T,Missense_P720T exm2270359 6 90652950 [T/C] NM_001170794,NM_021813 BACH2,BACH2 Silent,Silent exm566792 6 90660090 [T/C] NM_001170794,NM_021813 BACH2,BACH2 EXON Missense_I579V,Missense_I579V exm566799 6 90660311 [T/C] NM_001170794,NM_021813 BACH2,BACH2 EXON Missense_K505R,Missense_K505R exm566803 6 90660378 [T/C] NM_001170794,NM_021813 BACH2,BACH2 EXON Missense_G483S,Missense_G483S exm566805 6 90660390 [T/C] NM_001170794,NM_021813 BACH2,BACH2 EXON Missense_A479T,Missense_A479T exm566806 6 90660398 [A/C] NM_001170794,NM_021813 BACH2,BACH2 EXON Missense_S476I,Missense_S476I exm566811 6 90660573 [T/C] NM_001170794,NM_021813 BACH2,BACH2 EXON Missense_A418T,Missense_A418T exm566812 6 90660581 [T/C] NM_001170794,NM_021813 BACH2,BACH2 EXON Missense_G415E,Missense_G415E exm566827 6 90660863 [A/G] NM_001170794,NM_021813 BACH2,BACH2 EXON Missense_T321M,Missense_T321M exm566830 6 90660954 [C/G] NM_001170794,NM_021813 BACH2,BACH2 EXON Missense_L291V,Missense_L291V exm566842 6 90661242 [T/C] NM_001170794,NM_021813 BACH2,BACH2 EXON Missense_A195T,Missense_A195T exm566847 6 90661295 [T/C] NM_001170794,NM_021813 BACH2,BACH2 EXON Missense_K177R,Missense_K177R exm566848 6 90661356 [T/C] NM_001170794,NM_021813 BACH2,BACH2 EXON Missense_E157K,Missense_E157K exm566851 6 90661373 [G/C] NM_001170794,NM_021813 BACH2,BACH2 EXON Missense_R151P,Missense_R151P exm566855 6 90661493 [T/C] NM_001170794,NM_021813 BACH2,BACH2 EXON Missense_R111H,Missense_R111H exm2262189 6 90899561 [A/G] NM_001170794,NM_021813 BACH2,BACH2 Silent,Silent exm-rs10806425 6 90926612 [A/C] NM_001170794,NM_021813 BACH2,BACH2 Silent,Silent exm-rs3757247 6 90957463 [T/C] NM_001170794,NM_021813 BACH2,BACH2 Silent,Silent exm-rs1847472 6 90973159 [A/C] NM_001170794,NM_021813 BACH2,BACH2 Silent,Silent exm2270360 6 91138902 [T/C] exm-rs806276 6 91207351 [A/G] exm566880 6 91254280 [T/C] NM_145331,NM_003188,NM_145332,NM_145333 MAP3K7,MAP3K7,MAP3K7,MAP3K7 EXON Missense_V428I,Silent,Missense_V428I,Silent exm2133060 6 91261769 [T/C] NM_145331,NM_003188,NM_145332,NM_145333 MAP3K7,MAP3K7,MAP3K7,MAP3K7 EXON Missense_R289Q,Missense_R289Q,Missense_R289Q,Missense_R289Q exm566903 6 91261860 [T/C] NM_145331,NM_003188,NM_145332,NM_145333 MAP3K7,MAP3K7,MAP3K7,MAP3K7 EXON Missense_I259V,Missense_I259V,Missense_I259V,Missense_I259V exm566915 6 91296577 [A/G] NM_145331,NM_003188,NM_145332,NM_145333 MAP3K7,MAP3K7,MAP3K7,MAP3K7 EXON Missense_S9F,Missense_S9F,Missense_S9F,Missense_S9F exm2257983 6 91682316 [T/C] exm2262191 6 91779382 [A/G] exm2266230 6 91988031 [A/G] exm2262192 6 92461829 [T/C] exm2270362 6 92576162 [T/C] exm2257986 6 93085735 [A/C] exm2270363 6 93369655 [T/G] exm-rs9345283 6 93556913 [A/G] exm-rs594442 6 93847884 [A/T] exm-rs1408282 6 93852252 [A/G] exm2266231 6 93854804 [A/G] exm566922 6 93955064 [A/G] NM_004440 EPHA7 EXON Missense_T945M exm2257988 6 93967201 [T/C] NM_004440 EPHA7 EXON Synonymous_G717G exm566948 6 93967903 [T/G] NM_004440 EPHA7 EXON Missense_Q675P exm566949 6 93967943 [A/C] NM_004440 EPHA7 EXON Missense_V662L exm566954 6 93969123 [T/C] NM_004440 EPHA7 EXON Missense_A625T exm566983 6 94066478 [A/G] NM_004440 EPHA7 EXON Synonymous_S427S exm566986 6 94066647 [T/C] NM_004440 EPHA7 EXON Missense_R371Q exm566988 6 94066676 [G/C] NM_004440 EPHA7 EXON Missense_N361K exm566994 6 94067986 [T/C] NM_004440 EPHA7 EXON Missense_V326I exm566997 6 94068112 [A/G] NM_004440 EPHA7 EXON Missense_Y284H exm567000 6 94120219 [A/G] NM_004440 EPHA7 EXON Missense_P278S exm567003 6 94120318 [T/C] NM_004440 EPHA7 EXON Missense_A245T exm567010 6 94120639 [T/C] NM_004440 EPHA7 EXON Missense_I138V exm2262194 6 94495530 [A/G] exm2270365 6 94635123 [T/C] exm-rs452930 6 94922837 [T/C] exm2257993 6 95032230 [T/C] exm567022 6 96034328 [T/C] NM_024641 MANEA EXON Missense_R5W exm567023 6 96034329 [A/G] NM_024641 MANEA EXON Missense_R5Q exm567027 6 96034380 [T/G] NM_024641 MANEA EXON Missense_L22R exm567031 6 96034467 [A/G] NM_024641 MANEA EXON Missense_R51Q exm567036 6 96034548 [C/G] NM_024641 MANEA EXON Missense_S78T exm567038 6 96034575 [A/G] NM_024641 MANEA EXON Missense_K87R exm567042 6 96034680 [A/G] NM_024641 MANEA EXON Missense_H122R exm567044 6 96034746 [A/G] NM_024641 MANEA EXON Missense_H144R exm567045 6 96034844 [T/C] NM_024641 MANEA EXON Missense_R177C exm567046 6 96034857 [T/C] NM_024641 MANEA EXON Missense_I181T exm567064 6 96053755 [T/G] NM_024641 MANEA EXON Missense_R288L exm567066 6 96053815 [A/G] NM_024641 MANEA EXON Missense_H308R exm567072 6 96053922 [A/T] NM_024641 MANEA EXON Missense_F344I exm567073 6 96053941 [T/C] NM_024641 MANEA EXON Missense_L350S exm567078 6 96054019 [A/G] NM_024641 MANEA EXON Missense_R376Q exm567080 6 96054043 [T/C] NM_024641 MANEA EXON Missense_I384T exm567083 6 96054069 [T/C] NM_024641 MANEA EXON Missense_R393C exm567090 6 96054262 [A/G] NM_024641 MANEA EXON Missense_R457H exm2270368 6 96338498 [T/C] exm-rs9404150 6 96474372 [A/G] NM_006581 FUT9 Silent exm2257996 6 96512220 [A/G] NM_006581 FUT9 Silent exm567096 6 96651198 [A/C] NM_006581 FUT9 EXON Missense_T56N exm567117 6 96651740 [A/G] NM_006581 FUT9 EXON Missense_T237A exm567140 6 96973174 [T/G] NM_015323 UFL1 EXON Missense_V85G exm2133147 6 96974210 [T/C] NM_015323 UFL1 EXON Missense_R122W exm567143 6 96974255 [T/G] NM_015323 UFL1 EXON Missense_V137F exm567147 6 96976396 [A/G] NM_015323 UFL1 EXON Missense_G162S exm567151 6 96976483 [T/C] NM_015323 UFL1 EXON Missense_R191C exm2133157 6 96985257 [T/G] NM_015323 UFL1 EXON Missense_D270E exm2133163 6 96988480 [A/G] NM_015323 UFL1 EXON Missense_V410I exm567183 6 96996133 [T/C] NM_015323 UFL1 EXON Missense_S499L exm567203 6 96999722 [A/C] NM_015323 UFL1 EXON Missense_E636D exm567208 6 97000365 [C/G] NM_015323 UFL1 EXON Missense_L665V exm567209 6 97000377 [T/C] NM_015323 UFL1 EXON Nonsense_R669X exm567216 6 97000486 [G/C] NM_015323 UFL1 EXON Missense_P705R exm567219 6 97001165 [A/T] NM_015323 UFL1 EXON Missense_Q724L exm567221 6 97001248 [A/C] NM_015323 UFL1 EXON Missense_P752T exm567226 6 97051559 [T/G] NM_020482,NM_001170807 FHL5,FHL5 EXON Missense_D24Y,Missense_D24Y exm567227 6 97051593 [A/G] NM_020482,NM_001170807 FHL5,FHL5 EXON Missense_R35H,Missense_R35H exm567231 6 97052644 [T/C] NM_020482,NM_001170807 FHL5,FHL5 EXON Missense_R60W,Missense_R60W exm567247 6 97058451 [A/G] NM_020482,NM_001170807 FHL5,FHL5 EXON Missense_I170V,Missense_I170V exm567252 6 97058515 [A/G] NM_020482,NM_001170807 FHL5,FHL5 EXON Missense_G191D,Missense_G191D exm567256 6 97058574 [A/G] NM_020482,NM_001170807 FHL5,FHL5 EXON Missense_V211M,Missense_V211M exm567259 6 97063522 [C/G] NM_020482,NM_001170807 FHL5,FHL5 EXON Missense_S243R,Missense_S243R exm2257997 6 97093037 [T/C] exm567272 6 97246395 [A/G] NM_001143957,NM_030784 GPR63,GPR63 EXON Missense_R405C,Missense_R405C exm567281 6 97246485 [T/C] NM_001143957,NM_030784 GPR63,GPR63 EXON Missense_I375V,Missense_I375V exm567301 6 97247030 [A/T] NM_001143957,NM_030784 GPR63,GPR63 EXON Missense_Y193F,Missense_Y193F exm2274170 6 97247079 [T/C] NM_001143957,NM_030784 GPR63,GPR63 EXON Missense_I177V,Missense_I177V exm567308 6 97247340 [A/G] NM_001143957,NM_030784 GPR63,GPR63 EXON Missense_F90L,Missense_F90L exm567313 6 97247547 [T/C] NM_001143957,NM_030784 GPR63,GPR63 EXON Missense_V21M,Missense_V21M exm2257998 6 97339088 [T/C] NM_014165 NDUFAF4 EXON Synonymous_Q140Q exm567333 6 97344663 [T/C] NM_014165 NDUFAF4 EXON Missense_K66R exm567343 6 97345638 [T/G] NM_014165 NDUFAF4 EXON Missense_L14I exm567347 6 97414949 [T/C] NM_052904 KLHL32 EXON Missense_R5C exm567358 6 97512577 [A/G] NM_052904 KLHL32 EXON Missense_N129S exm567361 6 97533027 [A/G] NM_052904 KLHL32 EXON Missense_D146G exm567363 6 97533083 [A/G] NM_052904 KLHL32 EXON Missense_D165N exm567366 6 97533122 [T/C] NM_052904 KLHL32 EXON Missense_R178C exm2270370 6 97546036 [T/C] NM_052904,NR_031679 KLHL32,MIR548H3 Silent,Silent exm567391 6 97562259 [T/C] NM_052904,NR_031679 KLHL32,MIR548H3 EXON Missense_R410C,Silent exm567404 6 97587028 [T/A] NM_052904,NR_031679 KLHL32,MIR548H3 EXON Missense_E578V,Silent exm567413 6 97597803 [C/G] NR_031679,NM_198468 MIR548H3,MMS22L EXON Silent,Missense_H1192Q exm567420 6 97599674 [A/G] NR_031679,NM_198468 MIR548H3,MMS22L EXON Silent,Missense_P1152L exm567422 6 97599702 [T/C] NR_031679,NM_198468 MIR548H3,MMS22L EXON Silent,Missense_A1143T exm567423 6 97599707 [A/G] NR_031679,NM_198468 MIR548H3,MMS22L EXON Silent,Missense_V1141A exm567429 6 97609932 [T/C] NR_031679,NM_198468 MIR548H3,MMS22L EXON Silent,Missense_E1111K exm567433 6 97610000 [T/C] NR_031679,NM_198468 MIR548H3,MMS22L EXON Silent,Missense_R1088H exm567437 6 97613177 [T/G] NR_031679,NM_198468 MIR548H3,MMS22L EXON Silent,Missense_T1056P exm567441 6 97613263 [A/G] NR_031679,NM_198468 MIR548H3,MMS22L EXON Silent,Missense_I1027T exm567443 6 97613299 [A/G] NR_031679,NM_198468 MIR548H3,MMS22L EXON Silent,Missense_P1015L exm567444 6 97613321 [T/C] NR_031679,NM_198468 MIR548H3,MMS22L EXON Silent,Missense_V1008M exm567450 6 97616053 [T/C] NR_031679,NM_198468 MIR548H3,MMS22L EXON Silent,Missense_R968Q exm567453 6 97621027 [T/G] NR_031679,NM_198468 MIR548H3,MMS22L EXON Silent,Missense_E917D exm567455 6 97621047 [T/C] NR_031679,NM_198468 MIR548H3,MMS22L EXON Silent,Missense_M911V exm567460 6 97626374 [A/G] NR_031679,NM_198468 MIR548H3,MMS22L EXON Silent,Missense_V875A exm567462 6 97626424 [A/T] NR_031679,NM_198468 MIR548H3,MMS22L EXON Silent,Missense_R858S exm567465 6 97627344 [T/C] NR_031679,NM_198468 MIR548H3,MMS22L EXON Silent,Missense_I826V exm567468 6 97627380 [T/C] NR_031679,NM_198468 MIR548H3,MMS22L EXON Silent,Missense_V814I exm567474 6 97629889 [A/G] NR_031679,NM_198468 MIR548H3,MMS22L EXON Silent,Missense_S759P exm567475 6 97629913 [T/C] NR_031679,NM_198468 MIR548H3,MMS22L EXON Silent,Missense_M751V exm567480 6 97634475 [G/C] NR_031679,NM_198468 MIR548H3,MMS22L EXON Silent,Missense_A711P exm567481 6 97634483 [T/C] NR_031679,NM_198468 MIR548H3,MMS22L EXON Silent,Missense_R708H exm567488 6 97676810 [T/C] NR_031679,NM_198468 MIR548H3,MMS22L EXON Silent,Missense_T667A exm567494 6 97676951 [T/C] NR_031679,NM_198468 MIR548H3,MMS22L EXON Silent,Missense_I620V exm567495 6 97676962 [T/C] NR_031679,NM_198468 MIR548H3,MMS22L EXON Silent,Missense_Q616R exm567496 6 97676987 [C/G] NR_031679,NM_198468 MIR548H3,MMS22L EXON Silent,Missense_V608L exm567500 6 97677080 [A/G] NR_031679,NM_198468 MIR548H3,MMS22L EXON Silent,Missense_F577L exm567502 6 97677116 [A/G] NR_031679,NM_198468 MIR548H3,MMS22L EXON Silent,Missense_S565P exm567503 6 97677118 [A/G] NR_031679,NM_198468 MIR548H3,MMS22L EXON Silent,Missense_T564M exm567508 6 97679326 [A/T] NR_031679,NM_198468 MIR548H3,MMS22L EXON Silent,Missense_H502L exm567513 6 97679429 [T/C] NR_031679,NM_198468 MIR548H3,MMS22L EXON Silent,Missense_D468N exm567519 6 97681777 [A/G] NR_031679,NM_198468 MIR548H3,MMS22L EXON Silent,Missense_A421V exm2244560 6 97681784 [T/C] NR_031679,NM_198468 MIR548H3,MMS22L EXON Silent,Missense_N419D exm567525 6 97694509 [T/C] NR_031679,NM_198468 MIR548H3,MMS22L EXON Silent,Missense_V393I exm567530 6 97702450 [G/C] NR_031679,NM_198468 MIR548H3,MMS22L EXON Silent,Missense_G368R exm567544 6 97717794 [T/C] NR_031679,NM_198468 MIR548H3,MMS22L EXON Silent,Missense_M227I exm567551 6 97720648 [A/G] NR_031679,NM_198468 MIR548H3,MMS22L EXON Silent,Missense_Y180H exm567569 6 97730335 [G/C] NR_031679,NM_198468 MIR548H3,MMS22L EXON Silent,Missense_A7P exm567571 6 97730338 [T/C] NR_031679,NM_198468 MIR548H3,MMS22L EXON Silent,Missense_A6T exm-rs9320598 6 98019080 [A/G] exm2262198 6 98104948 [A/G] exm2270371 6 98212409 [T/C] exm2270372 6 98597689 [T/C] exm-rs9491640 6 98919264 [A/C] exm2270503 6 99138875 [T/G] exm2264176 6 99267877 [A/C] exm567611 6 99323399 [C/G] NM_012160 FBXL4 EXON Missense_L532V exm2274171 6 99323548 [T/C] NM_012160 FBXL4 EXON Missense_R482Q exm567620 6 99328430 [A/G] NM_012160 FBXL4 EXON Missense_M463T exm567626 6 99347158 [A/G] NM_012160 FBXL4 EXON Nonsense_R435X exm567647 6 99365361 [T/A] NM_012160 FBXL4 EXON Missense_D249E exm567649 6 99365371 [A/G] NM_012160 FBXL4 EXON Missense_I246T exm567655 6 99365426 [T/C] NM_012160 FBXL4 EXON Missense_V228M exm567658 6 99365567 [T/C] NM_012160 FBXL4 EXON Missense_T181A exm567660 6 99365582 [A/G] NM_012160 FBXL4 EXON Missense_W176R exm567670 6 99374572 [T/C] NM_012160 FBXL4 EXON Missense_R98Q exm567673 6 99374734 [T/G] NM_012160 FBXL4 EXON Missense_T44N exm567674 6 99374760 [A/T] NM_012160 FBXL4 EXON Missense_H35Q exm567675 6 99374761 [T/C] NM_012160 FBXL4 EXON Missense_H35R exm567678 6 99374801 [A/G] NM_012160 FBXL4 EXON Nonsense_R22X exm-rs2132683 6 99672014 [T/C] exm567690 6 99729213 [T/C] NM_032511 FAXC EXON Missense_K353E exm567724 6 99790880 [A/G] NM_032511 FAXC EXON Missense_A99V exm567726 6 99796993 [C/G] NM_032511 FAXC EXON Missense_L86V exm567734 6 99817491 [A/T] NM_017421 COQ3 EXON Missense_E365D exm567735 6 99817513 [T/C] NM_017421 COQ3 EXON Missense_C358Y exm567737 6 99817543 [T/C] NM_017421 COQ3 EXON Missense_G348E exm567738 6 99817601 [A/G] NM_017421 COQ3 EXON Missense_Y329H exm567745 6 99819379 [T/C] NM_017421 COQ3 EXON Missense_S272G exm2244562 6 99819429 [T/C] NM_017421 COQ3 EXON Missense_K255R exm567753 6 99823941 [T/C] NM_017421 COQ3 EXON Missense_V202M exm567761 6 99825348 [T/C] NM_017421 COQ3 EXON Missense_K134E exm567771 6 99828206 [A/G] NM_017421 COQ3 EXON Missense_A82V exm2133379 6 99831628 [T/C] NM_017421 COQ3 EXON Nonsense_W60X exm567782 6 99841982 [T/G] NM_017421 COQ3 EXON Missense_T25K exm567784 6 99848453 [T/G] NM_015491,NM_032870 PNISR,PNISR EXON Missense_A794E,Missense_A794E exm2133387 6 99848501 [T/C] NM_015491,NM_032870 PNISR,PNISR EXON Missense_H778R,Missense_H778R exm567790 6 99848550 [A/G] NM_015491,NM_032870 PNISR,PNISR EXON Missense_S762P,Missense_S762P exm567793 6 99848591 [T/C] NM_015491,NM_032870 PNISR,PNISR EXON Missense_S748N,Missense_S748N exm567796 6 99848701 [A/T] NM_015491,NM_032870 PNISR,PNISR EXON Missense_L711F,Missense_L711F exm567802 6 99848778 [A/G] NM_015491,NM_032870 PNISR,PNISR EXON Missense_R686C,Missense_R686C exm2133391 6 99848970 [A/G] NM_015491,NM_032870 PNISR,PNISR EXON Missense_R622C,Missense_R622C exm567814 6 99849044 [C/G] NM_015491,NM_032870 PNISR,PNISR EXON Missense_S597C,Missense_S597C exm567816 6 99849068 [A/G] NM_015491,NM_032870 PNISR,PNISR EXON Missense_V589A,Missense_V589A exm567819 6 99849191 [T/C] NM_015491,NM_032870 PNISR,PNISR EXON Missense_R548Q,Missense_R548Q exm567822 6 99849261 [T/C] NM_015491,NM_032870 PNISR,PNISR EXON Missense_S525G,Missense_S525G exm567829 6 99849469 [A/C] NM_015491,NM_032870 PNISR,PNISR EXON Missense_M455I,Missense_M455I exm567831 6 99850422 [T/C] NM_015491,NM_032870 PNISR,PNISR EXON Missense_M441V,Missense_M441V exm567834 6 99850511 [T/C] NM_015491,NM_032870 PNISR,PNISR EXON Missense_D411G,Missense_D411G exm567835 6 99850541 [T/C] NM_015491,NM_032870 PNISR,PNISR EXON Missense_S401N,Missense_S401N exm567860 6 99858695 [T/C] NM_015491,NM_032870 PNISR,PNISR EXON Missense_I141M,Missense_I141M exm567862 6 99858828 [T/C] NM_015491,NM_032870 PNISR,PNISR EXON Missense_H97R,Missense_H97R exm567875 6 99862498 [A/G] NM_015491,NM_032870 PNISR,PNISR EXON Missense_P13L,Missense_P13L exm567882 6 99883704 [T/C] NM_001080481 USP45 EXON Missense_N778S exm567890 6 99885246 [T/G] NM_001080481 USP45 EXON Nonsense_Y730X exm567893 6 99887677 [T/C] NM_001080481 USP45 EXON Missense_D710N exm567902 6 99891475 [A/G] NM_001080481 USP45 EXON Missense_A680V exm567904 6 99891524 [A/C] NM_001080481 USP45 EXON Nonsense_G664X exm567907 6 99893693 [T/C] NM_001080481 USP45 EXON Missense_Q652R exm567908 6 99893698 [A/C] NM_001080481 USP45 EXON Missense_K650N exm2258005 6 99893938 [T/C] NM_001080481 USP45 EXON Synonymous_G570G exm2133417 6 99894012 [A/T] NM_001080481 USP45 EXON Nonsense_K546X exm567929 6 99894086 [C/G] NM_001080481 USP45 EXON Missense_R521T exm567930 6 99894100 [A/C] NM_001080481 USP45 EXON Missense_Q516H exm567935 6 99894201 [T/C] NM_001080481 USP45 EXON Missense_N483D exm567939 6 99894321 [A/G] NM_001080481 USP45 EXON Nonsense_R443X exm567942 6 99912535 [A/G] NM_001080481 USP45 EXON Missense_I418T exm567946 6 99912592 [T/C] NM_001080481 USP45 EXON Missense_N399S exm567947 6 99912594 [T/C] NM_001080481 USP45 EXON Missense_M398I exm2133422 6 99913003 [T/C] NM_001080481 USP45 EXON Missense_V373M exm567951 6 99913005 [A/G] NM_001080481 USP45 EXON Missense_T372M exm567953 6 99914609 [A/C] NM_001080481 USP45 EXON Missense_F349C exm567954 6 99916493 [T/C] NM_001080481 USP45 EXON Missense_R312Q exm567957 6 99924099 [A/G] NM_001080481 USP45 EXON Nonsense_R285X exm567959 6 99930627 [A/G] NM_001080481 USP45 Silent exm567964 6 99936132 [A/C] NM_001080481 USP45 EXON Nonsense_E220X exm567967 6 99936165 [T/C] NM_001080481 USP45 EXON Missense_A209T exm567982 6 99956505 [T/C] NM_001080481 USP45 EXON Missense_C85Y exm567984 6 99956560 [T/C] NM_001080481 USP45 EXON Missense_K67E exm567994 6 99958057 [T/C] NM_001080481 USP45 EXON Missense_A14T exm2270373 6 99958818 [T/C] NM_001080481 USP45 Silent exm568003 6 99997450 [T/G] NM_001013399,NM_005190 CCNC,CCNC EXON Synonymous_R93R,Synonymous_R178R exm568024 6 100010747 [T/C] NM_001013399,NM_005190 CCNC,CCNC EXON Silent,Missense_Y37C exm568036 6 100055023 [T/C] NM_021620 PRDM13 EXON Missense_S38L exm568039 6 100055044 [T/C] NM_021620 PRDM13 EXON Missense_P45L exm568090 6 100062040 [T/C] NM_021620 PRDM13 EXON Missense_A510V exm568099 6 100062483 [C/G] NM_021620 PRDM13 EXON Missense_L658V exm2266329 6 100116092 [A/G] exm-rs4840086 6 100208438 [A/G] exm568134 6 100390919 [A/C] NM_001040179,NM_032503 MCHR2,MCHR2 EXON Missense_A165S,Missense_A165S exm568138 6 100390957 [T/C] NM_001040179,NM_032503 MCHR2,MCHR2 EXON Missense_R152Q,Missense_R152Q exm568139 6 100390978 [T/C] NM_001040179,NM_032503 MCHR2,MCHR2 EXON Missense_R145K,Missense_R145K exm568150 6 100395842 [T/C] NM_001040179,NM_032503 MCHR2,MCHR2 EXON Missense_R63K,Missense_R63K exm2257420 6 100676593 [T/C] exm-rs2841307 6 100756687 [T/C] exm2107176 6 100838246 [A/G] NM_005068 SIM1 EXON Synonymous_N764N exm568166 6 100838419 [G/C] NM_005068 SIM1 EXON Missense_D707H exm568173 6 100838544 [T/C] NM_005068 SIM1 EXON Missense_R665H exm568181 6 100838673 [A/G] NM_005068 SIM1 EXON Missense_S622F exm568182 6 100838674 [A/G] NM_005068 SIM1 EXON Missense_S622P exm568185 6 100838745 [C/G] NM_005068 SIM1 EXON Missense_A598G exm568186 6 100838815 [T/C] NM_005068 SIM1 EXON Missense_I575V exm568194 6 100841364 [A/G] NM_005068 SIM1 EXON Synonymous_H523H exm2242907 6 100841621 [C/G] NM_005068 SIM1 EXON Missense_Q438E exm2107191 6 100868686 [T/C] NM_005068 SIM1 EXON Missense_R383G exm568218 6 100868721 [A/G] NM_005068 SIM1 EXON Missense_A371V exm568220 6 100868751 [A/G] NM_005068 SIM1 EXON Missense_T361I exm568222 6 100868779 [T/G] NM_005068 SIM1 EXON Missense_P352T exm568240 6 100897470 [C/G] NM_005068 SIM1 EXON Missense_Q152E exm568244 6 100897541 [A/G] NM_005068 SIM1 EXON Missense_I128T exm568267 6 100957344 [T/C] NM_006828 ASCC3 EXON Missense_Y2176C exm568268 6 100957932 [T/C] NM_006828 ASCC3 EXON Missense_E2113K exm568270 6 100960590 [A/G] NM_006828 ASCC3 EXON Missense_H2094Y exm568271 6 100960621 [T/A] NM_006828 ASCC3 EXON Missense_Q2083H exm568275 6 100960752 [T/C] NM_006828 ASCC3 EXON Missense_I2040V exm568279 6 100964057 [T/C] NM_006828 ASCC3 EXON Missense_Q2025R exm568280 6 100964063 [A/G] NM_006828 ASCC3 EXON Missense_T2023M exm568283 6 100964147 [G/C] NM_006828 ASCC3 EXON Missense_S1995C exm568296 6 100966006 [T/C] NM_006828 ASCC3 EXON Missense_V1930M exm2107231 6 101054930 [T/C] NM_006828 ASCC3 EXON Missense_N1607S exm568327 6 101073124 [T/C] NM_006828 ASCC3 EXON Missense_A1577T exm568342 6 101079008 [T/G] NM_006828 ASCC3 EXON Missense_K1402Q exm568344 6 101079088 [A/G] NM_006828 ASCC3 EXON Missense_A1375V exm568345 6 101079090 [G/C] NM_006828 ASCC3 Silent exm568349 6 101086496 [T/C] NM_006828 ASCC3 EXON Missense_N1368S exm568352 6 101086611 [T/C] NM_006828 ASCC3 EXON Missense_V1330I exm568359 6 101090504 [A/G] NM_006828 ASCC3 EXON Missense_I1285T exm568360 6 101090505 [T/C] NM_006828 ASCC3 EXON Missense_I1285V exm568363 6 101090550 [A/G] NM_006828 ASCC3 EXON Nonsense_R1270X exm568371 6 101094516 [T/C] NM_006828 ASCC3 EXON Missense_Y1203C exm568372 6 101094520 [T/G] NM_006828 ASCC3 EXON Missense_I1202L exm568373 6 101094535 [A/G] NM_006828 ASCC3 EXON Nonsense_R1197X exm568381 6 101098518 [T/C] NM_006828 ASCC3 EXON Missense_V1050I exm568386 6 101099464 [G/C] NM_006828 ASCC3 EXON Missense_S1016C exm568409 6 101103660 [C/G] NM_006828 ASCC3 EXON Missense_A913G exm568430 6 101163360 [T/C] NM_006828 ASCC3 EXON Missense_K710R exm568437 6 101166033 [T/C] NM_006828 ASCC3 EXON Missense_Y666C exm2266233 6 101168439 [A/G] NM_006828 ASCC3 Silent exm568450 6 101215020 [A/C] NM_006828 ASCC3 Silent exm2107264 6 101215022 [T/C] NM_006828 ASCC3 EXON Missense_K532R exm568453 6 101215141 [T/A] NM_006828 ASCC3 EXON Missense_N492K exm568454 6 101215148 [T/G] NM_006828 ASCC3 EXON Missense_N490T exm568456 6 101215184 [T/C] NM_006828 ASCC3 EXON Missense_N478S exm568462 6 101246588 [T/C] NM_006828 ASCC3 Silent exm568464 6 101246645 [T/C] NM_006828 ASCC3 EXON Missense_E447K exm568471 6 101247393 [T/C] NM_006828 ASCC3 EXON Missense_A395T exm568481 6 101248344 [A/G] NM_006828 ASCC3 EXON Missense_P320L exm2107281 6 101253658 [T/A] NM_006828 ASCC3 EXON Missense_D300E exm568486 6 101253659 [T/C] NM_006828 ASCC3 EXON Missense_D300G exm568496 6 101296350 [T/C] NM_006828 ASCC3 EXON Missense_D159N exm568499 6 101296389 [A/G] NM_006828 ASCC3 EXON Missense_L146F exm568502 6 101296420 [T/A] NM_006828 ASCC3 EXON Missense_N135K exm2270504 6 101354510 [T/C] exm568544 6 102134167 [C/G] NM_021956,NM_001166247,NM_175768 GRIK2,GRIK2,GRIK2 EXON Missense_S297W,Missense_S297W,Missense_S297W exm568548 6 102134227 [T/C] NM_021956,NM_001166247,NM_175768 GRIK2,GRIK2,GRIK2 EXON Missense_T317M,Missense_T317M,Missense_T317M exm2262006 6 102198569 [T/G] NM_021956,NM_001166247,NM_175768 GRIK2,GRIK2,GRIK2 Silent,Silent,Silent exm2242912 6 102250248 [A/T] NM_021956,NM_001166247,NM_175768 GRIK2,GRIK2,GRIK2 EXON Missense_T380S,Missense_T380S,Missense_T380S exm568572 6 102337555 [T/C] NM_021956,NM_001166247,NM_175768 GRIK2,GRIK2,GRIK2 EXON Missense_V522A,Missense_V522A,Missense_V522A exm568575 6 102337618 [A/G] NM_021956,NM_001166247,NM_175768 GRIK2,GRIK2,GRIK2 EXON Missense_R543H,Missense_R543H,Missense_R543H exm2270375 6 102408680 [T/C] NM_021956,NM_001166247,NM_175768 GRIK2,GRIK2,GRIK2 Silent,Silent,Silent exm568595 6 102483426 [A/G] NM_021956,NM_001166247,NM_175768 GRIK2,GRIK2,GRIK2 EXON Missense_V766I,Missense_V766I,Missense_V766I exm568604 6 102511846 [A/G] NM_021956,NM_001166247,NM_175768 GRIK2,GRIK2,GRIK2 EXON Silent,Silent,Missense_I858V exm568610 6 102516260 [A/G] NM_021956,NM_001166247,NM_175768 GRIK2,GRIK2,GRIK2 EXON Missense_M867I,Silent,Silent exm2257425 6 102645130 [T/C] exm-rs9322660 6 102894075 [T/G] exm2270377 6 103225137 [T/G] exm2264208 6 103261515 [A/C] exm2266235 6 103403853 [A/G] exm2270378 6 104076463 [T/C] exm2266330 6 104217420 [A/G] exm-rs4520040 6 104432165 [A/G] exm2266236 6 104493098 [A/G] exm-rs9377619 6 104593867 [A/G] exm2270379 6 105054947 [T/C] exm568669 6 105232866 [A/G] NM_020771 HACE1 EXON Missense_P468L exm568670 6 105232879 [T/A] NM_020771 HACE1 EXON Missense_S464T exm568680 6 105233073 [T/C] NM_020771 HACE1 EXON Missense_D399G exm568691 6 105239465 [T/C] NM_020771 HACE1 EXON Missense_V330I exm568695 6 105243493 [A/G] NM_020771 HACE1 EXON Missense_L295P exm-rs7759938 6 105378954 [T/C] exm-rs314280 6 105400837 [A/G] exm-rs314277 6 105407662 [A/C] NM_001004317 LIN28B Silent exm-rs314274 6 105412932 [A/C] NM_001004317 LIN28B Silent exm-rs314268 6 105417978 [A/G] NM_001004317 LIN28B Silent exm568739 6 105526501 [A/G] NM_001004317 LIN28B EXON Missense_H199R exm568740 6 105526519 [T/C] NM_001004317 LIN28B EXON Missense_P205L exm568753 6 105563609 [T/C] NM_001199563,NM_007073,NM_147147 BVES,BVES,BVES EXON Missense_D304N,Missense_D304N,Missense_D304N exm568762 6 105572496 [T/C] NM_001199563,NM_007073,NM_147147 BVES,BVES,BVES EXON Missense_N192D,Missense_N192D,Missense_N192D exm568767 6 105573291 [A/G] NM_001199563,NM_007073,NM_147147 BVES,BVES,BVES EXON Missense_R172C,Missense_R172C,Missense_R172C exm568773 6 105573419 [T/C] NM_001199563,NM_007073,NM_147147 BVES,BVES,BVES EXON Missense_R129Q,Missense_R129Q,Missense_R129Q exm568774 6 105573420 [A/G] NM_001199563,NM_007073,NM_147147 BVES,BVES,BVES EXON Missense_R129W,Missense_R129W,Missense_R129W exm568775 6 105573424 [T/C] NM_001199563,NM_007073,NM_147147 BVES,BVES,BVES EXON Missense_M127I,Missense_M127I,Missense_M127I exm568780 6 105577325 [T/C] NM_001199563,NM_007073,NM_147147 BVES,BVES,BVES EXON Missense_M94V,Missense_M94V,Missense_M94V exm2242921 6 105577343 [A/G] NM_001199563,NM_007073,NM_147147 BVES,BVES,BVES EXON Nonsense_R88X,Nonsense_R88X,Nonsense_R88X exm568789 6 105581379 [A/G] NM_001199563,NM_007073,NM_147147 BVES,BVES,BVES EXON Missense_I25T,Missense_I25T,Missense_I25T exm568790 6 105581410 [T/C] NM_001199563,NM_007073,NM_147147 BVES,BVES,BVES EXON Missense_I15V,Missense_I15V,Missense_I15V exm568794 6 105606361 [T/C] NR_037157,NM_022361,NR_024539 BVES-AS1,POPDC3,POPDC3 EXON Silent,Missense_R287Q,Silent exm568813 6 105609390 [T/C] NR_037157,NM_022361,NR_024539 BVES-AS1,POPDC3,POPDC3 EXON Silent,Missense_S132N,Silent exm568818 6 105609468 [T/C] NR_037157,NM_022361,NR_024539 BVES-AS1,POPDC3,POPDC3 EXON Silent,Missense_R106Q,Silent exm568821 6 105609515 [T/C] NR_037157,NM_022361,NR_024539 BVES-AS1,POPDC3,POPDC3 EXON Silent,Missense_M90I,Silent exm-rs11962089 6 105612220 [A/G] NR_037157,NM_022361,NR_024539 BVES-AS1,POPDC3,POPDC3 Silent,Silent,Silent exm2266331 6 105643136 [A/G] exm568844 6 105726036 [T/C] NM_002726 PREP EXON Missense_V706I exm568859 6 105726242 [G/C] NM_002726 PREP EXON Missense_T637S exm568868 6 105730456 [A/G] NM_002726 PREP EXON Synonymous_G517G exm2107484 6 105771566 [T/C] NM_002726 PREP EXON Missense_D431N exm568888 6 105776796 [G/C] NM_002726 PREP EXON Missense_T374S exm568895 6 105781267 [T/C] NM_002726 PREP EXON Missense_V313M exm568904 6 105800848 [A/C] NM_002726 PREP EXON Synonymous_A274A exm568909 6 105816810 [T/G] NM_002726 PREP EXON Missense_P229T exm568911 6 105816843 [T/C] NM_002726 PREP EXON Missense_D218N exm568912 6 105821286 [T/C] NM_002726 PREP EXON Missense_M185V exm568918 6 105824057 [A/C] NM_002726 PREP EXON Missense_A110S exm2257432 6 105991031 [A/G] exm-rs9386463 6 106094057 [A/G] exm2257433 6 106266373 [A/G] exm2262012 6 106303274 [T/C] exm-rs6568421 6 106435025 [A/G] exm-rs7746082 6 106435269 [C/G] exm-rs6911490 6 106522027 [T/C] exm568936 6 106536253 [A/G] NM_001198 PRDM1 EXON Missense_G74S exm568944 6 106543549 [A/G] NM_001198 PRDM1 EXON Missense_I117M exm568957 6 106547325 [A/G] NM_001198,NM_182907 PRDM1,PRDM1 EXON Missense_K188E,Missense_K54E exm568959 6 106547372 [G/C] NM_001198,NM_182907 PRDM1,PRDM1 EXON Missense_D203E,Missense_D69E exm568964 6 106552846 [A/G] NM_001198,NM_182907 PRDM1,PRDM1 EXON Missense_I271V,Missense_I137V exm568967 6 106552892 [G/C] NM_001198,NM_182907 PRDM1,PRDM1 EXON Missense_R286P,Missense_R152P exm2257434 6 106553169 [T/C] NM_001198,NM_182907 PRDM1,PRDM1 EXON Synonymous_N378N,Synonymous_N244N exm568986 6 106553176 [T/C] NM_001198,NM_182907 PRDM1,PRDM1 EXON Missense_Y381H,Missense_Y247H exm568992 6 106553257 [C/G] NM_001198,NM_182907 PRDM1,PRDM1 EXON Missense_A408P,Missense_A274P exm568995 6 106553314 [A/G] NM_001198,NM_182907 PRDM1,PRDM1 EXON Missense_A427T,Missense_A293T exm569001 6 106553383 [T/C] NM_001198,NM_182907 PRDM1,PRDM1 EXON Missense_L450F,Missense_L316F exm569002 6 106553393 [A/G] NM_001198,NM_182907 PRDM1,PRDM1 EXON Missense_G453E,Missense_G319E exm569010 6 106553606 [C/G] NM_001198,NM_182907 PRDM1,PRDM1 EXON Missense_T524R,Missense_T390R exm569029 6 106555110 [A/G] NM_001198,NM_182907 PRDM1,PRDM1 EXON Missense_E743K,Missense_E609K exm569031 6 106555116 [A/G] NM_001198,NM_182907 PRDM1,PRDM1 EXON Missense_V745M,Missense_V611M exm569035 6 106555195 [A/G] NM_001198,NM_182907 PRDM1,PRDM1 EXON Missense_G771D,Missense_G637D exm569047 6 106555338 [A/G] NM_001198,NM_182907 PRDM1,PRDM1 EXON Missense_T819A,Missense_T685A exm569049 6 106555347 [A/C] NM_001198,NM_182907 PRDM1,PRDM1 EXON Missense_P822T,Missense_P688T exm-rs548234 6 106568034 [T/C] exm569058 6 106727629 [T/C] NM_004849 ATG5 EXON Missense_M129V exm569067 6 106756282 [T/C] NM_004849 ATG5 EXON Missense_I65V exm-rs6568433 6 106829537 [T/C] exm-rs1417352 6 106899226 [T/C] exm569073 6 106960245 [T/C] NM_001624 AIM1 EXON Missense_S10L exm569081 6 106960433 [A/G] NM_001624 AIM1 EXON Missense_A73T exm569087 6 106960617 [A/C] NM_001624 AIM1 EXON Missense_P134H exm569089 6 106960650 [A/G] NM_001624 AIM1 EXON Missense_K145R exm569096 6 106960829 [A/G] NM_001624 AIM1 EXON Missense_A205T exm569103 6 106967036 [T/G] NM_001624 AIM1 EXON Missense_N243K exm569107 6 106967107 [A/G] NM_001624 AIM1 EXON Missense_G267D exm569111 6 106967185 [A/C] NM_001624 AIM1 EXON Missense_Q293P exm569112 6 106967188 [A/G] NM_001624 AIM1 EXON Missense_R294K exm569113 6 106967190 [A/G] NM_001624 AIM1 EXON Missense_N295D exm2107571 6 106967251 [A/C] NM_001624 AIM1 EXON Missense_A315D exm2107572 6 106967260 [T/C] NM_001624 AIM1 EXON Missense_M318T exm569118 6 106967358 [A/G] NM_001624 AIM1 EXON Missense_E351K exm569122 6 106967482 [T/C] NM_001624 AIM1 EXON Missense_V392A exm569124 6 106967554 [A/G] NM_001624 AIM1 EXON Missense_K416R exm569146 6 106967778 [T/C] NM_001624 AIM1 EXON Missense_C491R exm569153 6 106967833 [A/G] NM_001624 AIM1 EXON Missense_R509H exm569155 6 106967902 [A/G] NM_001624 AIM1 EXON Missense_R532H exm569156 6 106967928 [T/C] NM_001624 AIM1 EXON Missense_C541R exm569173 6 106968091 [T/C] NM_001624 AIM1 EXON Missense_A595V exm569174 6 106968097 [G/C] NM_001624 AIM1 EXON Missense_P597R exm569182 6 106968148 [T/C] NM_001624 AIM1 EXON Missense_A614V exm569184 6 106968205 [A/G] NM_001624 AIM1 EXON Missense_Q633R exm569189 6 106968250 [T/G] NM_001624 AIM1 EXON Missense_S648I exm569191 6 106968256 [A/C] NM_001624 AIM1 EXON Missense_T650N exm569198 6 106968369 [A/G] NM_001624 AIM1 EXON Missense_D688N exm569200 6 106968435 [A/G] NM_001624 AIM1 EXON Missense_A710T exm569201 6 106968460 [A/G] NM_001624 AIM1 EXON Missense_K718R exm569207 6 106968600 [T/C] NM_001624 AIM1 EXON Missense_P765S exm569225 6 106968881 [A/G] NM_001624 AIM1 EXON Missense_M858I exm569227 6 106968943 [T/C] NM_001624 AIM1 EXON Missense_T879M exm569233 6 106969027 [A/G] NM_001624 AIM1 EXON Missense_N907S exm569237 6 106969182 [A/G] NM_001624 AIM1 EXON Missense_M959V exm569243 6 106969266 [T/C] NM_001624 AIM1 EXON Missense_F987L exm569244 6 106969279 [A/G] NM_001624 AIM1 EXON Missense_R991Q exm569259 6 106973234 [T/A] NM_001624 AIM1 EXON Missense_V1054E exm569260 6 106973236 [T/A] NM_001624 AIM1 EXON Missense_I1055L exm2107597 6 106975200 [T/C] NM_001624 AIM1 EXON Missense_P1070L exm569267 6 106975290 [A/G] NM_001624 AIM1 EXON Missense_E1100G exm569273 6 106978190 [T/C] NM_001624 AIM1 EXON Missense_T1165M exm569279 6 106987345 [T/G] NM_001624 AIM1 EXON Missense_D1188Y exm569280 6 106987370 [A/C] NM_001624 AIM1 EXON Missense_E1196A exm569286 6 106989483 [T/C] NM_001624 AIM1 EXON Missense_P1215L exm569290 6 106991367 [T/C] NM_001624 AIM1 EXON Missense_T1237I exm569292 6 106991410 [C/G] NM_001624 AIM1 EXON Missense_E1251D exm569299 6 106992472 [T/C] NM_001624 AIM1 EXON Missense_F1281S exm569301 6 106992504 [A/G] NM_001624 AIM1 EXON Missense_E1292K exm2107616 6 106992539 [A/T] NM_001624 AIM1 EXON Missense_N1303K exm569305 6 106992558 [T/C] NM_001624 AIM1 EXON Nonsense_R1310X exm2107621 6 107001375 [T/G] NM_001624 AIM1 EXON Missense_F1432V exm569329 6 107001385 [T/C] NM_001624 AIM1 EXON Missense_T1435I exm569330 6 107001414 [A/T] NM_001624 AIM1 EXON Missense_T1445S exm569335 6 107003686 [A/G] NM_001624 AIM1 EXON Missense_V1469M exm569336 6 107003706 [A/T] NM_001624 AIM1 EXON Nonsense_Y1475X exm569357 6 107009239 [A/G] NM_001624 AIM1 EXON Missense_R1593Q exm569375 6 107019942 [T/C] NM_032730 RTN4IP1 EXON Missense_K374E exm569377 6 107019968 [A/G] NM_032730 RTN4IP1 EXON Missense_V365A exm569396 6 107040160 [A/C] NM_032730 RTN4IP1 EXON Missense_D229Y exm569411 6 107070758 [A/G] NM_032730 RTN4IP1 EXON Missense_R121W exm569425 6 107076767 [T/G] NM_032730 RTN4IP1 EXON Missense_P44T exm569430 6 107076892 [T/G] NM_032730 RTN4IP1 EXON Missense_E2A exm569442 6 107088231 [T/C] NM_018292 QRSL1 EXON Missense_A11V exm569468 6 107100212 [T/G] NM_018292 QRSL1 EXON Missense_V229G exm569469 6 107100220 [A/G] NM_018292 QRSL1 EXON Missense_I232V exm569477 6 107100396 [A/G] NM_018292 QRSL1 EXON Missense_N263S exm569480 6 107100438 [T/G] NM_018292 QRSL1 EXON Missense_L277R exm569486 6 107102618 [T/C] NM_018292 QRSL1 EXON Missense_P288L exm569493 6 107103496 [A/G] NM_018292 QRSL1 EXON Missense_R350K exm569494 6 107103510 [T/G] NM_018292 QRSL1 EXON Missense_V355L exm569498 6 107110855 [A/C] NM_018292 QRSL1 EXON Missense_E387D exm569504 6 107110988 [A/G] NM_018292 QRSL1 EXON Missense_E432K exm569511 6 107113728 [T/C] NM_018292 QRSL1 EXON Missense_R480C exm569512 6 107113732 [T/C] NM_018292 QRSL1 EXON Missense_A481V exm569517 6 107113831 [T/C] NM_018292 QRSL1 EXON Missense_A514V exm2270381 6 107253258 [T/C] exm2266332 6 107316022 [A/G] exm569528 6 107351312 [A/G] NM_016487,NM_001142470,NM_001142468 C6orf203,C6orf203,C6orf203 Silent,Silent,Silent exm569534 6 107361020 [A/G] NM_016487,NM_001142470,NM_001142468 C6orf203,C6orf203,C6orf203 EXON Nonsense_W19X,Nonsense_W24X,Nonsense_W19X exm569540 6 107361143 [A/G] NM_016487,NM_001142470,NM_001142468 C6orf203,C6orf203,C6orf203 EXON Missense_Y60C,Missense_Y65C,Missense_Y60C exm569544 6 107361208 [A/G] NM_016487,NM_001142470,NM_001142468 C6orf203,C6orf203,C6orf203 EXON Missense_V82I,Missense_V87I,Missense_V82I exm569547 6 107361297 [A/T] NM_016487,NM_001142470,NM_001142468 C6orf203,C6orf203,C6orf203 EXON Missense_H111Q,Missense_H116Q,Missense_H111Q exm569549 6 107361343 [A/T] NM_016487,NM_001142470,NM_001142468 C6orf203,C6orf203,C6orf203 EXON Missense_T127S,Missense_T132S,Missense_T127S exm569572 6 107390134 [A/G] NM_001080450 BEND3 EXON Missense_A754V exm569591 6 107390392 [C/G] NM_001080450 BEND3 EXON Missense_R668T exm569597 6 107390507 [T/C] NM_001080450 BEND3 EXON Missense_V630I exm569606 6 107390714 [A/G] NM_001080450 BEND3 EXON Missense_R561C exm569624 6 107391055 [T/C] NM_001080450 BEND3 EXON Missense_R447Q exm569628 6 107391088 [T/C] NM_001080450 BEND3 EXON Missense_G436E exm569645 6 107391554 [T/C] NM_001080450 BEND3 EXON Missense_D281N exm569657 6 107391775 [A/G] NM_001080450 BEND3 EXON Missense_T207M exm569663 6 107391941 [C/G] NM_001080450 BEND3 EXON Missense_V152L exm569669 6 107392066 [T/C] NM_001080450 BEND3 EXON Missense_N110S exm569670 6 107392090 [A/G] NM_001080450 BEND3 EXON Missense_A102V exm569683 6 107419856 [T/C] NM_001080450 BEND3 EXON Missense_V47I exm569688 6 107420474 [A/C] NM_001080450 BEND3 EXON Missense_F6V exm569690 6 107420500 [A/G] NM_001080450 BEND3 EXON Silent exm2107747 6 107475829 [A/C] NM_020381 PDSS2 EXON Missense_F398L exm569698 6 107475977 [T/C] NM_020381 PDSS2 EXON Missense_R349Q exm569705 6 107531648 [T/C] NM_020381 PDSS2 EXON Missense_G335R exm569713 6 107533452 [A/G] NM_020381 PDSS2 EXON Missense_T246I exm569717 6 107566787 [T/C] NM_020381 PDSS2 EXON Missense_V223I exm569729 6 107655510 [T/C] NM_020381 PDSS2 EXON Missense_S108N exm2107788 6 107780213 [A/G] NM_020381 PDSS2 EXON Missense_P93S exm569732 6 107780215 [T/G] NM_020381 PDSS2 EXON Missense_H92P exm569745 6 107780483 [A/G] NM_020381 PDSS2 EXON Missense_F3L exm569746 6 107780486 [T/G] NM_020381 PDSS2 EXON Missense_N2H exm569752 6 107827475 [A/G] NM_018013 SOBP EXON Missense_E89K exm569754 6 107827529 [A/G] NM_018013 SOBP EXON Missense_T107A exm569785 6 107955663 [A/G] NM_018013 SOBP EXON Missense_I539V exm569787 6 107955777 [T/C] NM_018013 SOBP EXON Missense_P577S exm569798 6 107956308 [T/C] NM_018013 SOBP EXON Missense_P754S exm2270508 6 107990428 [T/G] exm2270382 6 108002078 [T/C] exm569819 6 108029180 [A/G] NM_198081 SCML4 EXON Missense_R337W exm569821 6 108029194 [A/G] NM_198081 SCML4 EXON Missense_A332V exm569852 6 108066288 [T/C] NM_198081 SCML4 EXON Missense_G183S exm569859 6 108067907 [T/C] NM_198081 SCML4 EXON Missense_G158D exm569865 6 108067992 [T/C] NM_198081 SCML4 EXON Missense_V130M exm569866 6 108068003 [T/C] NM_198081 SCML4 EXON Missense_R126Q exm569868 6 108068064 [T/C] NM_198081 SCML4 EXON Missense_A106T exm569869 6 108068066 [T/C] NM_198081 SCML4 EXON Missense_N105S exm569877 6 108070972 [A/G] NM_198081 SCML4 EXON Missense_R68W exm569880 6 108071016 [A/G] NM_198081 SCML4 EXON Missense_I53T exm569899 6 108197775 [A/G] NM_007214 SEC63 EXON Missense_T676I exm569900 6 108197777 [T/A] NM_007214 SEC63 EXON Missense_D675E exm2107864 6 108197818 [T/C] NM_007214 SEC63 EXON Missense_T662A exm569917 6 108214694 [T/C] NM_007214 SEC63 EXON Missense_V556I exm569968 6 108246131 [A/G] NM_007214 SEC63 EXON Missense_I77T exm2270383 6 108314167 [T/C] exm-rs17069122 6 108323759 [A/G] exm569990 6 108370517 [T/C] NM_014028 OSTM1 EXON Missense_V297I exm2107913 6 108370585 [T/C] NM_014028 OSTM1 EXON Missense_N274S exm570019 6 108395700 [G/C] NM_014028 OSTM1 EXON Missense_L52F exm570022 6 108395713 [G/C] NM_014028 OSTM1 EXON Missense_S48W exm570023 6 108395722 [T/C] NM_014028 OSTM1 EXON Missense_D45G exm570042 6 108497811 [T/C] NM_003269 NR2E1 EXON Missense_S122P exm570080 6 108616303 [T/C] NM_145315 LACE1 EXON Missense_L7P exm570082 6 108616323 [T/G] NM_145315 LACE1 EXON Missense_L14V exm570091 6 108645107 [A/G] NM_145315 LACE1 EXON Missense_H73R exm570100 6 108668210 [C/G] NM_145315 LACE1 EXON Missense_P128A exm570114 6 108677977 [A/G] NM_145315 LACE1 EXON Missense_E201K exm570134 6 108768445 [T/C] NM_145315 LACE1 EXON Missense_S279F exm570140 6 108798097 [T/C] NM_145315 LACE1 EXON Missense_M307T exm570147 6 108831424 [A/G] NM_145315 LACE1 EXON Missense_A358T exm570151 6 108831463 [A/G] NM_145315 LACE1 EXON Missense_I371V exm570156 6 108831508 [G/C] NM_145315 LACE1 EXON Missense_Q386E exm570162 6 108840903 [G/C] NM_145315 LACE1 EXON Missense_R403G exm570163 6 108840904 [A/G] NM_145315 LACE1 EXON Missense_R403H exm570164 6 108840919 [T/C] NM_145315 LACE1 EXON Missense_A408V exm570169 6 108843547 [T/G] NM_145315 LACE1 EXON Missense_F455L exm-rs2153960 6 108988184 [A/G] NM_201559,NM_001455 FOXO3,FOXO3 Silent,Silent exm-rs3800229 6 108996963 [T/G] NM_201559,NM_001455 FOXO3,FOXO3 Silent,Silent exm2262016 6 109013930 [T/C] exm2266240 6 109049607 [A/G] exm-rs508903 6 109066761 [A/C] exm570256 6 109175625 [A/C] NM_032131 ARMC2 EXON Missense_Q52P exm570267 6 109190060 [A/G] NM_032131 ARMC2 EXON Missense_E109K exm570268 6 109190067 [T/C] NM_032131 ARMC2 EXON Missense_S111F exm570269 6 109190094 [A/T] NM_032131 ARMC2 EXON Missense_V120E exm570272 6 109190126 [T/G] NM_032131 ARMC2 EXON Missense_A131S exm570278 6 109197379 [T/C] NM_032131 ARMC2 EXON Missense_M166T exm570281 6 109197403 [T/C] NM_032131 ARMC2 EXON Missense_I174T exm570282 6 109197433 [T/C] NM_032131 ARMC2 EXON Missense_A184V exm570283 6 109197435 [A/G] NM_032131 ARMC2 EXON Missense_I185V exm2242966 6 109220953 [T/C] NM_032131 ARMC2 EXON Missense_W269R exm2108053 6 109220996 [A/G] NM_032131 ARMC2 Silent exm570319 6 109274276 [T/C] NM_032131 ARMC2 EXON Missense_T546M exm570324 6 109274381 [A/G] NM_032131 ARMC2 EXON Missense_Q581R exm570331 6 109274497 [A/G] NM_032131 ARMC2 EXON Missense_V620M exm2257442 6 109274514 [T/C] NM_032131 ARMC2 EXON Synonymous_A625A exm570337 6 109274527 [A/G] NM_032131 ARMC2 EXON Missense_I630V exm2257443 6 109282806 [A/G] NM_032131 ARMC2 EXON Synonymous_L649L exm570346 6 109283300 [A/G] NM_032131 ARMC2 EXON Missense_D708N exm570355 6 109294590 [A/G] NM_032131 ARMC2 EXON Missense_D826G exm570358 6 109294679 [C/G] NM_032131 ARMC2 EXON Missense_H856D exm570377 6 109313998 [A/G] NM_001199933,NM_014454,NM_001199934 SESN1,SESN1,SESN1 EXON Missense_R350C,Missense_R409C,Missense_R284C exm570386 6 109319741 [A/G] NM_001199933,NM_014454,NM_001199934 SESN1,SESN1,SESN1 EXON Missense_P257L,Missense_P316L,Missense_P191L exm570387 6 109319746 [C/G] NM_001199933,NM_014454,NM_001199934 SESN1,SESN1,SESN1 EXON Missense_E255D,Missense_E314D,Missense_E189D exm570406 6 109321804 [A/G] NM_001199933,NM_014454,NM_001199934 SESN1,SESN1,SESN1 EXON Missense_P148S,Missense_P207S,Missense_P82S exm570415 6 109322501 [A/G] NM_001199933,NM_014454,NM_001199934 SESN1,SESN1,SESN1 EXON Missense_I120T,Missense_I179T,Missense_I54T exm570419 6 109322536 [T/C] NM_001199933,NM_014454,NM_001199934 SESN1,SESN1,SESN1 EXON Missense_M108I,Missense_M167I,Missense_M42I exm570427 6 109323519 [T/G] NM_001199933,NM_014454,NM_001199934 SESN1,SESN1,SESN1 EXON Missense_L44I,Missense_L103I,Silent exm570434 6 109415140 [C/G] NM_014454 SESN1 EXON Missense_P46R exm570446 6 109466452 [T/G] NM_001271852,NM_001083535,NM_001271853,NM_173830 CEP57L1,CEP57L1,CEP57L1,CEP57L1 EXON Missense_V10L,Missense_V10L,Missense_V10L,Missense_V10L exm2257444 6 109468136 [A/G] NM_001271852,NM_001083535,NM_001271853,NM_173830 CEP57L1,CEP57L1,CEP57L1,CEP57L1 EXON Synonymous_K112K,Synonymous_K112K,Synonymous_K112K,Synonymous_K112K exm570459 6 109471351 [C/G] NM_001271852,NM_001083535,NM_001271853,NM_173830 CEP57L1,CEP57L1,CEP57L1,CEP57L1 EXON Missense_S124C,Missense_S124C,Missense_S124C,Missense_S124C exm570469 6 109476435 [A/C] NM_001271852,NM_001083535,NM_001271853,NM_173830 CEP57L1,CEP57L1,CEP57L1,CEP57L1 EXON Missense_D194E,Missense_D194E,Missense_D194E,Missense_D194E exm570475 6 109480241 [T/C] NM_001271852,NM_001083535,NM_001271853,NM_173830 CEP57L1,CEP57L1,CEP57L1,CEP57L1 EXON Missense_I253T,Missense_I253T,Missense_I253T,Missense_I253T exm570480 6 109480542 [A/T] NM_001271852,NM_001083535,NM_001271853,NM_173830 CEP57L1,CEP57L1,CEP57L1,CEP57L1 EXON Missense_K298M,Missense_K298M,Missense_K298M,Missense_K298M exm570487 6 109481776 [A/G] NM_001271852,NM_001083535,NM_001271853,NM_173830 CEP57L1,CEP57L1,CEP57L1,CEP57L1 EXON Missense_E340K,Missense_E340K,Missense_E340K,Missense_E340K exm570490 6 109481786 [A/G] NM_001271852,NM_001083535,NM_001271853,NM_173830 CEP57L1,CEP57L1,CEP57L1,CEP57L1 EXON Missense_E343G,Missense_E343G,Missense_E343G,Missense_E343G exm-rs884366 6 109574095 [A/G] exm-rs9374080 6 109616420 [T/C] NR_028595 CCDC162P Silent exm2257446 6 109624937 [A/G] NR_028595 CCDC162P Silent exm-rs11966072 6 109634828 [A/G] exm570530 6 109690073 [T/C] NM_001142404,NM_001142402,NM_001142401,NM_001142403,NM_006016 CD164,CD164,CD164,CD164,CD164 EXON Silent,Missense_R173Q,Missense_R179Q,Silent,Missense_R192Q exm570531 6 109690100 [A/G] NM_001142404,NM_001142402,NM_001142401,NM_001142403,NM_006016 CD164,CD164,CD164,CD164,CD164 EXON Silent,Missense_L164P,Missense_L170P,Silent,Missense_L183P exm570555 6 109699103 [T/C] NM_001142404,NM_001142402,NM_001142401,NM_001142403,NM_006016 CD164,CD164,CD164,CD164,CD164 EXON Missense_V111I,Missense_V111I,Missense_A111T,Missense_V111I,Missense_V111I exm570556 6 109699104 [A/G] NM_001142404,NM_001142402,NM_001142401,NM_001142403,NM_006016 CD164,CD164,CD164,CD164,CD164 EXON Synonymous_S110S,Synonymous_S110S,Synonymous_S110S,Synonymous_S110S,Synonymous_S110S exm570563 6 109700808 [A/G] NM_001142404,NM_001142402,NM_001142401,NM_001142403,NM_006016 CD164,CD164,CD164,CD164,CD164 EXON Missense_T78I,Missense_T78I,Missense_T78I,Missense_T78I,Missense_T78I exm570565 6 109700847 [T/C] NM_001142404,NM_001142402,NM_001142401,NM_001142403,NM_006016 CD164,CD164,CD164,CD164,CD164 EXON Missense_N65S,Missense_N65S,Missense_N65S,Missense_N65S,Missense_N65S exm2108180 6 109700851 [G/C] NM_001142404,NM_001142402,NM_001142401,NM_001142403,NM_006016 CD164,CD164,CD164,CD164,CD164 EXON Missense_R64G,Missense_R64G,Missense_R64G,Missense_R64G,Missense_R64G exm570574 6 109703524 [A/C] NM_001142404,NM_001142402,NM_001142401,NM_001142403,NM_006016 CD164,CD164,CD164,CD164,CD164 EXON Missense_V20L,Missense_V20L,Missense_V20L,Missense_V20L,Missense_V20L exm570589 6 109721368 [T/C] NM_001111298,NM_173672 PPIL6,PPIL6 EXON Missense_N258D,Missense_N232D exm-rs9487094 6 109742015 [A/G] NM_001111298,NM_173672 PPIL6,PPIL6 Silent,Silent exm570595 6 109748082 [T/C] NM_001111298,NM_173672 PPIL6,PPIL6 EXON Missense_R200Q,Missense_R200Q exm570600 6 109748341 [T/C] NM_001111298,NM_173672 PPIL6,PPIL6 EXON Missense_D147N,Missense_D147N exm570607 6 109752426 [A/C] NM_001111298,NM_173672 PPIL6,PPIL6 EXON Missense_I118M,Missense_I118M exm570608 6 109752445 [A/G] NM_001111298,NM_173672 PPIL6,PPIL6 EXON Missense_V112A,Missense_V112A exm570609 6 109752451 [T/C] NM_001111298,NM_173672 PPIL6,PPIL6 EXON Missense_H110R,Missense_H110R exm570614 6 109752549 [T/C] NM_001111298,NM_173672 PPIL6,PPIL6 Silent,Silent exm570629 6 109762332 [T/C] NM_001111298,NM_173672,NM_003080 PPIL6,PPIL6,SMPD2 EXON Silent,Silent,Missense_P3L exm570640 6 109763433 [A/C] NM_003080 SMPD2 EXON Missense_F113L exm570641 6 109763464 [T/C] NM_003080 SMPD2 EXON Missense_H124Y exm570643 6 109763478 [A/G] NM_003080 SMPD2 EXON Missense_M128I exm570645 6 109763498 [C/G] NM_003080 SMPD2 EXON Missense_T135S exm570667 6 109764222 [A/G] NM_003080 SMPD2 EXON Missense_V223I exm570668 6 109764241 [A/T] NM_003080 SMPD2 EXON Missense_K229M exm570670 6 109764273 [A/G] NM_003080 SMPD2 EXON Missense_V240M exm570671 6 109764280 [A/T] NM_003080 SMPD2 EXON Missense_Y242F exm570673 6 109764535 [T/G] NM_003080 SMPD2 EXON Missense_R265S exm570683 6 109764814 [C/G] NM_003080 SMPD2 EXON Missense_F326L exm570684 6 109764816 [T/C] NM_003080 SMPD2 EXON Missense_A327V exm2257447 6 109764961 [T/C] NM_003080 SMPD2 EXON Synonymous_H375H exm570691 6 109764961 [T/C] NM_003080 SMPD2 EXON Synonymous_H375H exm570708 6 109765453 [A/G] NM_001159291,NM_022765 MICAL1,MICAL1 EXON Missense_R963C,Missense_R1049C exm570714 6 109765938 [T/C] NM_001159291,NM_022765 MICAL1,MICAL1 EXON Missense_M929I,Missense_M1015I exm570727 6 109766439 [T/C] NM_001159291,NM_022765 MICAL1,MICAL1 EXON Missense_E862K,Missense_E948K exm570728 6 109766471 [T/A] NM_001159291,NM_022765 MICAL1,MICAL1 EXON Missense_E851V,Missense_E937V exm570734 6 109766660 [A/G] NM_001159291,NM_022765 MICAL1,MICAL1 EXON Missense_R830C,Missense_R916C exm570736 6 109766710 [A/G] NM_001159291,NM_022765 MICAL1,MICAL1 EXON Missense_T813I,Missense_T899I exm570743 6 109767059 [A/G] NM_001159291,NM_022765 MICAL1,MICAL1 EXON Missense_V777A,Missense_V863A exm570745 6 109767362 [C/G] NM_001159291,NM_022765 MICAL1,MICAL1 EXON Missense_G767A,Missense_G853A exm570748 6 109767396 [A/G] NM_001159291,NM_022765 MICAL1,MICAL1 EXON Missense_R756C,Missense_R842C exm2108233 6 109767446 [A/G] NM_001159291,NM_022765 MICAL1,MICAL1 EXON Missense_P739L,Missense_P825L exm570751 6 109767447 [T/G] NM_001159291,NM_022765 MICAL1,MICAL1 EXON Missense_P739T,Missense_P825T exm2108236 6 109767557 [A/G] NM_001159291,NM_022765 MICAL1,MICAL1 EXON Missense_S702L,Missense_S788L exm570766 6 109767931 [T/C] NM_001159291,NM_022765 MICAL1,MICAL1 EXON Missense_A672T,Missense_A758T exm570773 6 109768336 [A/G] NM_001159291,NM_022765 MICAL1,MICAL1 EXON Missense_R637C,Missense_R723C exm570774 6 109768348 [A/G] NM_001159291,NM_022765 MICAL1,MICAL1 EXON Missense_R633W,Missense_R719W exm570775 6 109768363 [T/C] NM_001159291,NM_022765 MICAL1,MICAL1 EXON Missense_G628S,Missense_G714S exm570783 6 109768568 [T/G] NM_001159291,NM_022765 MICAL1,MICAL1 EXON Missense_H602N,Missense_H688N exm570784 6 109768585 [A/G] NM_001159291,NM_022765 MICAL1,MICAL1 EXON Missense_L596P,Missense_L682P exm570796 6 109769085 [T/C] NM_001159291,NM_022765 MICAL1,MICAL1 EXON Missense_R560Q,Missense_R646Q exm570797 6 109769091 [A/C] NM_001159291,NM_022765 MICAL1,MICAL1 EXON Missense_R558L,Missense_R644L exm570799 6 109769128 [T/C] NM_001159291,NM_022765 MICAL1,MICAL1 EXON Missense_V546I,Missense_V632I exm2274173 6 109769459 [A/C] NM_001159291,NM_022765 MICAL1,MICAL1 EXON Missense_I515S,Missense_I601S exm570823 6 109769978 [C/G] NM_001159291,NM_022765 MICAL1,MICAL1 EXON Missense_L455V,Missense_L541V exm570829 6 109770053 [A/G] NM_001159291,NM_022765 MICAL1,MICAL1 EXON Missense_R430C,Missense_R516C exm570831 6 109770079 [A/G] NM_001159291,NM_022765 MICAL1,MICAL1 EXON Missense_S421L,Missense_S507L exm570834 6 109770636 [T/C] NM_001159291,NM_022765 MICAL1,MICAL1 EXON Missense_N409D,Missense_N495D exm570835 6 109770638 [T/C] NM_001159291,NM_022765 MICAL1,MICAL1 EXON Missense_N408S,Missense_N494S exm570837 6 109770671 [T/G] NM_001159291,NM_022765 MICAL1,MICAL1 EXON Missense_Y397S,Missense_Y483S exm570844 6 109770880 [A/G] NM_001159291,NM_022765 MICAL1,MICAL1 EXON Missense_R386W,Missense_R472W exm570849 6 109771215 [T/C] NM_001159291,NM_022765 MICAL1,MICAL1 EXON Missense_R336Q,Missense_R422Q exm570850 6 109771246 [T/C] NM_001159291,NM_022765 MICAL1,MICAL1 EXON Missense_A326T,Missense_A412T exm570852 6 109771257 [T/C] NM_001159291,NM_022765 MICAL1,MICAL1 EXON Missense_R322Q,Missense_R408Q exm570853 6 109771258 [A/G] NM_001159291,NM_022765 MICAL1,MICAL1 EXON Missense_R322W,Missense_R408W exm570858 6 109771583 [A/G] NM_001159291,NM_022765 MICAL1,MICAL1 EXON Silent,Missense_R371W exm570860 6 109771594 [A/G] NM_001159291,NM_022765 MICAL1,MICAL1 EXON Silent,Missense_T367M exm570865 6 109771691 [A/G] NM_001159291,NM_022765 MICAL1,MICAL1 EXON Silent,Missense_R335W exm570866 6 109771715 [T/G] NM_001159291,NM_022765 MICAL1,MICAL1 EXON Silent,Missense_P327T exm570867 6 109771744 [T/C] NM_001159291,NM_022765 MICAL1,MICAL1 EXON Silent,Missense_N317S exm570868 6 109772822 [T/C] NM_001159291,NM_022765 MICAL1,MICAL1 EXON Missense_R305Q,Missense_R305Q exm570871 6 109772868 [T/C] NM_001159291,NM_022765 MICAL1,MICAL1 EXON Missense_D290N,Missense_D290N exm570881 6 109773569 [T/C] NM_001159291,NM_022765 MICAL1,MICAL1 EXON Missense_I238V,Missense_I238V exm570887 6 109773731 [T/C] NM_001159291,NM_022765 MICAL1,MICAL1 EXON Missense_G220D,Missense_G220D exm570895 6 109774465 [A/C] NM_001159291,NM_022765 MICAL1,MICAL1 Silent,Silent exm570908 6 109774960 [T/C] NM_001159291,NM_022765 MICAL1,MICAL1 EXON Missense_R116H,Missense_R116H exm570909 6 109774981 [T/C] NM_001159291,NM_022765 MICAL1,MICAL1 EXON Missense_R109Q,Missense_R109Q exm570910 6 109774985 [T/C] NM_001159291,NM_022765 MICAL1,MICAL1 EXON Missense_A108T,Missense_A108T exm2242975 6 109775021 [T/C] NM_001159291,NM_022765 MICAL1,MICAL1 EXON Missense_G96R,Missense_G96R exm570915 6 109775149 [A/C] NM_001159291,NM_022765 MICAL1,MICAL1 EXON Missense_S84I,Missense_S84I exm570917 6 109775174 [A/T] NM_001159291,NM_022765 MICAL1,MICAL1 EXON Missense_Y76N,Missense_Y76N exm570923 6 109775366 [T/C] NM_001159291,NM_022765 MICAL1,MICAL1 EXON Missense_A12T,Missense_A12T exm570924 6 109775371 [A/G] NM_001159291,NM_022765 MICAL1,MICAL1 EXON Missense_A10V,Missense_A10V exm-rs1046943 6 109783941 [A/G] NM_014797 ZBTB24 EXON Silent exm570928 6 109787062 [A/G] NM_014797 ZBTB24 EXON Nonsense_Q696X exm570931 6 109787079 [A/G] NM_014797 ZBTB24 EXON Missense_T690M exm570944 6 109787398 [A/T] NM_014797 ZBTB24 EXON Missense_M584L exm570950 6 109787446 [T/C] NM_014797 ZBTB24 EXON Missense_G568S exm570952 6 109787460 [A/G] NM_014797 ZBTB24 EXON Missense_I563T exm570954 6 109787476 [T/C] NM_014797 ZBTB24 EXON Missense_D558N exm570955 6 109787555 [T/A] NM_014797 ZBTB24 EXON Missense_E531D exm570956 6 109787596 [T/C] NM_014797 ZBTB24 EXON Missense_A518T exm570966 6 109796653 [A/G] NM_014797 ZBTB24 EXON Missense_R413C exm570989 6 109802442 [T/C] NM_014797,NM_001164313 ZBTB24,ZBTB24 EXON Missense_K263R,Missense_K263R exm2257448 6 109802600 [T/C] NM_014797,NM_001164313 ZBTB24,ZBTB24 EXON Synonymous_Q210Q,Synonymous_Q210Q exm570996 6 109802649 [A/T] NM_014797,NM_001164313 ZBTB24,ZBTB24 EXON Missense_N194I,Missense_N194I exm571002 6 109802929 [T/C] NM_014797,NM_001164313 ZBTB24,ZBTB24 EXON Missense_A101T,Missense_A101T exm571012 6 109803216 [A/G] NM_014797,NM_001164313 ZBTB24,ZBTB24 EXON Missense_S5L,Missense_S5L exm571031 6 109819135 [A/G] NM_001145128 AKD1 EXON Missense_P1694S exm571042 6 109827606 [A/C] NM_001145128 AKD1 EXON Missense_W1591C exm571045 6 109827716 [T/C] NM_001145128 AKD1 EXON Missense_V1555I exm571056 6 109837133 [A/G] NM_001145128 AKD1 EXON Missense_A1331V exm571058 6 109837229 [T/C] NM_001145128 AKD1 EXON Missense_R1299Q exm571076 6 109850233 [A/C] NM_001145128 AKD1 EXON Missense_R1205I exm571078 6 109850242 [A/G] NM_001145128 AKD1 EXON Missense_I1202T exm571094 6 109863251 [A/G] NM_001145128 AKD1 EXON Missense_R1117C exm571097 6 109863293 [T/G] NM_001145128 AKD1 EXON Missense_L1103I exm571098 6 109863301 [T/G] NM_001145128 AKD1 EXON Missense_P1100H exm2275902 6 109867151 [A/G] NM_001145128 AKD1 EXON Synonymous_N1048N exm571104 6 109867197 [T/G] NM_001145128 AKD1 EXON Missense_K1033T exm571110 6 109871296 [G/C] NM_001145128 AKD1 EXON Missense_L987F exm571116 6 109871399 [T/G] NM_001145128 AKD1 EXON Missense_E953A exm571120 6 109885396 [A/G] NM_001145128 AKD1 EXON Missense_L841P exm571121 6 109885417 [T/G] NM_001145128 AKD1 EXON Missense_K834T exm571123 6 109885475 [A/G] NM_001145128 AKD1 EXON Missense_P815S exm571125 6 109886001 [T/C] NM_001145128 AKD1 EXON Missense_G798R exm571130 6 109894773 [A/T] NM_001145128 AKD1 EXON Missense_D739V exm571132 6 109900765 [A/C] NM_001145128 AKD1 EXON Missense_V727L exm2242979 6 109906342 [T/C] NM_001145128 AKD1 EXON Missense_E700K exm2242980 6 109907189 [A/C] NM_001145128 AKD1 EXON Missense_L643F exm571160 6 109935453 [G/C] NM_001145128 AKD1 EXON Missense_D514E exm571161 6 109935484 [A/G] NM_001145128 AKD1 EXON Missense_S504F exm571165 6 109935606 [A/G] NM_001145128 AKD1 EXON Missense_S493P exm571178 6 109954114 [T/A] NM_001145128,NM_145025 AKD1,AKD1 EXON Silent,Missense_X422Y exm571179 6 109954145 [A/G] NM_001145128,NM_145025 AKD1,AKD1 EXON Missense_A412V,Missense_A412V exm571180 6 109954150 [T/C] NM_001145128,NM_145025 AKD1,AKD1 EXON Missense_M410I,Missense_M410I exm571185 6 109954236 [A/G] NM_001145128,NM_145025 AKD1,AKD1 EXON Missense_Y382H,Missense_Y382H exm-rs1406957 6 109954252 [T/C] NM_001145128,NM_145025 AKD1,AKD1 EXON Synonymous_L376L,Synonymous_L376L exm571190 6 109954416 [A/C] NM_001145128,NM_145025 AKD1,AKD1 EXON Missense_I348M,Missense_I348M exm571192 6 109954445 [T/A] NM_001145128,NM_145025 AKD1,AKD1 EXON Missense_C339S,Missense_C339S exm571196 6 109954498 [T/C] NM_001145128,NM_145025 AKD1,AKD1 EXON Missense_Y321C,Missense_Y321C exm571197 6 109954513 [T/C] NM_001145128,NM_145025 AKD1,AKD1 EXON Missense_R316H,Missense_R316H exm571201 6 109962806 [T/C] NM_001145128,NM_145025 AKD1,AKD1 EXON Missense_R283Q,Missense_R283Q exm571204 6 109965891 [T/C] NM_001145128,NM_145025 AKD1,AKD1 EXON Missense_E254K,Missense_E254K exm571208 6 109977967 [T/C] NM_001145128,NM_145025 AKD1,AKD1 EXON Missense_T251A,Missense_T251A exm571217 6 109980487 [C/G] NM_001145128,NM_145025 AKD1,AKD1 EXON Missense_Q192E,Missense_Q192E exm571218 6 109980489 [G/C] NM_001145128,NM_145025 AKD1,AKD1 EXON Missense_A191G,Missense_A191G exm2108360 6 109980532 [A/C] NM_001145128,NM_145025 AKD1,AKD1 EXON Missense_D177Y,Missense_D177Y exm571226 6 109993170 [A/T] NM_001145128,NM_145025 AKD1,AKD1 EXON Missense_I95L,Missense_I95L exm571228 6 109993200 [T/C] NM_001145128,NM_145025 AKD1,AKD1 EXON Missense_S85G,Missense_S85G exm-rs9400317 6 110007647 [A/G] NM_001145128,NM_145025 AKD1,AKD1 Silent,Silent exm571256 6 110037655 [A/G] NM_014845 FIG4 EXON Missense_Y58C exm571278 6 110059611 [T/C] NM_014845 FIG4 EXON Missense_R244C exm571282 6 110062679 [A/G] NM_014845 FIG4 EXON Missense_T270A exm571283 6 110062705 [A/T] NM_014845 FIG4 EXON Missense_K278N exm2108389 6 110064359 [T/C] NM_014845 FIG4 EXON Missense_A308V exm571290 6 110064928 [T/A] NM_014845 FIG4 EXON Missense_M364L exm571304 6 110083370 [T/C] NM_014845 FIG4 EXON Missense_R450C exm-rs4947019 6 110090049 [C/G] NM_014845 FIG4 Silent exm571319 6 110098178 [A/G] NM_014845 FIG4 EXON Missense_E602K exm571326 6 110106223 [A/G] NM_014845 FIG4 EXON Missense_Y647C exm571330 6 110107517 [T/C] NM_014845 FIG4 EXON Missense_V654A exm571332 6 110107636 [A/G] NM_014845 FIG4 EXON Missense_M694V exm2270384 6 110239704 [T/C] exm571374 6 110300854 [A/G] NM_005284 GPR6 EXON Missense_R180Q exm571385 6 110301074 [T/G] NM_005284 GPR6 EXON Missense_W253C exm2273424 6 110421361 [T/C] NM_001024936,NM_003931,NM_001024934,NM_001024935 WASF1,WASF1,WASF1,WASF1 EXON Silent,Silent,Silent,Silent exm571405 6 110422928 [A/G] NM_001024936,NM_003931,NM_001024934,NM_001024935 WASF1,WASF1,WASF1,WASF1 EXON Missense_A462V,Missense_A462V,Missense_A462V,Missense_A462V exm571406 6 110422931 [A/G] NM_001024936,NM_003931,NM_001024934,NM_001024935 WASF1,WASF1,WASF1,WASF1 EXON Missense_T461I,Missense_T461I,Missense_T461I,Missense_T461I exm571408 6 110422977 [T/G] NM_001024936,NM_003931,NM_001024934,NM_001024935 WASF1,WASF1,WASF1,WASF1 EXON Missense_T446P,Missense_T446P,Missense_T446P,Missense_T446P exm571420 6 110423268 [A/G] NM_001024936,NM_003931,NM_001024934,NM_001024935 WASF1,WASF1,WASF1,WASF1 EXON Missense_P349S,Missense_P349S,Missense_P349S,Missense_P349S exm571426 6 110424599 [A/G] NM_001024936,NM_003931,NM_001024934,NM_001024935 WASF1,WASF1,WASF1,WASF1 EXON Missense_P292L,Missense_P292L,Missense_P292L,Missense_P292L exm571442 6 110429840 [T/C] NM_001024936,NM_003931,NM_001024934,NM_001024935 WASF1,WASF1,WASF1,WASF1 EXON Missense_T105A,Missense_T105A,Missense_T105A,Missense_T105A exm571445 6 110434627 [T/C] NM_001024936,NM_003931,NM_001024934,NM_001024935 WASF1,WASF1,WASF1,WASF1 EXON Missense_N57S,Missense_N57S,Missense_N57S,Missense_N57S exm571455 6 110501666 [T/G] NM_015891 CDC40 EXON Missense_A7S exm2108472 6 110501805 [T/C] NM_015891 CDC40 EXON Missense_A53V exm571476 6 110533410 [A/G] NM_015891 CDC40 EXON Missense_T268A exm571483 6 110536489 [G/C] NM_015891 CDC40 EXON Missense_L315V exm2257451 6 110567212 [T/C] NM_001123364 METTL24 EXON Synonymous_K346K exm571509 6 110567306 [T/C] NM_001123364 METTL24 EXON Missense_R315Q exm571512 6 110567347 [A/C] NM_001123364 METTL24 EXON Missense_W301C exm571513 6 110567409 [A/G] NM_001123364 METTL24 EXON Missense_L281F exm571518 6 110620177 [T/C] NM_001123364 METTL24 EXON Missense_H245R exm2270511 6 110635602 [T/C] NM_001123364 METTL24 Silent exm2108512 6 110636572 [T/C] NM_001123364 METTL24 EXON Missense_N177S exm571528 6 110636603 [T/C] NM_001123364 METTL24 EXON Missense_D167N exm571531 6 110636619 [T/C] NM_001123364 METTL24 EXON Nonsense_W161X exm571532 6 110636629 [T/G] NM_001123364 METTL24 EXON Missense_H158P exm571540 6 110644069 [A/G] NM_001123364 METTL24 EXON Missense_R109W exm571544 6 110679158 [T/C] NM_001123364 METTL24 EXON Synonymous_K106K exm571556 6 110679450 [G/C] NM_001123364 METTL24 EXON Missense_R9T exm2270385 6 110680744 [T/G] exm2257452 6 110714008 [A/G] NM_003649,NM_004032 DDO,DDO EXON Synonymous_L360L,Synonymous_L301L exm571561 6 110714025 [T/C] NM_003649,NM_004032 DDO,DDO EXON Missense_E355K,Missense_E296K exm571563 6 110714040 [T/C] NM_003649,NM_004032 DDO,DDO EXON Missense_A350T,Missense_A291T exm571566 6 110714081 [T/C] NM_003649,NM_004032 DDO,DDO EXON Missense_S336N,Missense_S277N exm571567 6 110714090 [G/C] NM_003649,NM_004032 DDO,DDO EXON Missense_G333A,Missense_G274A exm571569 6 110714126 [T/C] NM_003649,NM_004032 DDO,DDO EXON Missense_R321Q,Missense_R262Q exm571570 6 110714127 [C/G] NM_003649,NM_004032 DDO,DDO EXON Missense_R321G,Missense_R262G exm571574 6 110714154 [T/C] NM_003649,NM_004032 DDO,DDO EXON Missense_V312M,Missense_V253M exm571577 6 110714205 [T/C] NM_003649,NM_004032 DDO,DDO EXON Missense_G295R,Missense_G236R exm571578 6 110714206 [T/G] NM_003649,NM_004032 DDO,DDO EXON Missense_H294Q,Missense_H235Q exm571579 6 110714240 [A/C] NM_003649,NM_004032 DDO,DDO EXON Missense_L283R,Missense_L224R exm571582 6 110714316 [A/G] NM_003649,NM_004032 DDO,DDO EXON Missense_H258Y,Missense_H199Y exm571584 6 110714357 [T/C] NM_003649,NM_004032 DDO,DDO EXON Missense_R244Q,Missense_R185Q exm571590 6 110714423 [A/G] NM_003649,NM_004032 DDO,DDO EXON Missense_S222L,Missense_S163L exm571591 6 110714437 [G/C] NM_003649,NM_004032 DDO,DDO EXON Missense_Q217H,Missense_Q158H exm571592 6 110714439 [G/C] NM_003649,NM_004032 DDO,DDO EXON Missense_Q217E,Missense_Q158E exm571599 6 110714522 [A/G] NM_003649,NM_004032 DDO,DDO EXON Missense_T189I,Missense_T130I exm571612 6 110726101 [T/C] NM_003649,NM_004032 DDO,DDO EXON Missense_V140M,Silent exm571622 6 110734613 [A/G] NM_003649,NM_004032 DDO,DDO EXON Missense_T46M,Missense_T46M exm571624 6 110734638 [T/C] NM_003649,NM_004032 DDO,DDO EXON Missense_G38R,Missense_G38R exm571627 6 110734652 [T/C] NM_003649,NM_004032 DDO,DDO EXON Missense_R33Q,Missense_R33Q exm571628 6 110734653 [A/G] NM_003649,NM_004032 DDO,DDO EXON Missense_R33W,Missense_R33W exm571632 6 110736706 [T/C] NM_003649,NM_004032 DDO,DDO EXON Missense_D15G,Missense_D15G exm571633 6 110736730 [T/C] NM_003649,NM_004032 DDO,DDO EXON Nonsense_W7X,Nonsense_W7X exm571639 6 110746146 [A/G] NM_033125 SLC22A16 EXON Missense_L555P exm571652 6 110752454 [T/C] NM_033125 SLC22A16 EXON Missense_G481S exm2108570 6 110759924 [A/T] NM_033125 SLC22A16 EXON Missense_Q437L exm571665 6 110759940 [T/C] NM_033125 SLC22A16 EXON Missense_V432I exm571666 6 110759943 [T/C] NM_033125 SLC22A16 EXON Missense_V431I exm571667 6 110759957 [T/G] NM_033125 SLC22A16 EXON Missense_A426E exm571670 6 110760008 [A/G] NM_033125 SLC22A16 EXON Missense_M409T exm2108572 6 110760012 [G/C] NM_033125 SLC22A16 EXON Missense_A408P exm571680 6 110763506 [A/G] NM_033125 SLC22A16 EXON Missense_S375L exm571683 6 110763546 [T/C] NM_033125 SLC22A16 EXON Missense_V362I exm2108579 6 110763731 [T/C] NM_033125 SLC22A16 EXON Missense_R300Q exm571701 6 110763875 [A/G] NM_033125 SLC22A16 EXON Missense_V252A exm571705 6 110763935 [T/C] NM_033125 SLC22A16 EXON Missense_E232G exm571711 6 110768128 [A/G] NM_033125 SLC22A16 EXON Missense_A200V exm571713 6 110768155 [T/C] NM_033125 SLC22A16 EXON Missense_S191N exm571715 6 110768182 [T/C] NM_033125 SLC22A16 EXON Missense_R182Q exm2275903 6 110768186 [A/G] NM_033125 SLC22A16 EXON Missense_R181C exm571718 6 110777778 [T/G] NM_033125 SLC22A16 EXON Missense_L166I exm571721 6 110777826 [A/G] NM_033125 SLC22A16 EXON Nonsense_R150X exm571722 6 110777829 [G/C] NM_033125 SLC22A16 EXON Missense_D149H exm571723 6 110777830 [T/A] NM_033125 SLC22A16 EXON Nonsense_C148X exm571731 6 110778051 [T/C] NM_033125 SLC22A16 EXON Missense_G75R exm571733 6 110778060 [C/G] NM_033125 SLC22A16 EXON Missense_E72Q exm571734 6 110778065 [T/C] NM_033125 SLC22A16 EXON Missense_S70N exm571735 6 110778093 [T/C] NM_033125 SLC22A16 EXON Missense_V61I exm2242992 6 110778141 [G/C] NM_033125 SLC22A16 EXON Missense_G45R exm571755 6 110942394 [T/G] NM_015076 CDK19 EXON Missense_S430R exm571756 6 110942426 [T/C] NM_015076 CDK19 EXON Missense_G420R exm2242993 6 110942500 [A/G] NM_015076 CDK19 EXON Missense_A395V exm571811 6 111214240 [A/G] NM_001634,NM_001033059 AMD1,AMD1 EXON Missense_K279R,Missense_K131R exm2108651 6 111280027 [A/G] NM_138408 GTF3C6 EXON Missense_E19K exm571824 6 111281638 [A/G] NM_138408 GTF3C6 EXON Missense_I54V exm-rs9374227 6 111283592 [T/C] NM_138408 GTF3C6 Silent exm571838 6 111288941 [T/C] NM_138408 GTF3C6 EXON Missense_I197T exm571839 6 111288958 [T/G] NM_138408 GTF3C6 EXON Missense_G203C exm571849 6 111306256 [T/C] NM_032194 RPF2 EXON Missense_P24L exm571852 6 111306307 [G/C] NM_032194 RPF2 EXON Missense_A41G exm571860 6 111310252 [A/G] NM_032194 RPF2 EXON Missense_G60S exm571870 6 111320929 [A/G] NM_032194 RPF2 EXON Missense_Y111C exm571884 6 111336990 [A/G] NM_032194 RPF2 EXON Missense_R176H exm571885 6 111337039 [T/G] NM_032194 RPF2 EXON Missense_K192N exm571905 6 111346774 [T/A] NM_032194 RPF2 EXON Nonsense_K304X exm571917 6 111409271 [A/G] NM_018593 SLC16A10 EXON Missense_D106N exm571935 6 111498785 [A/G] NM_018593 SLC16A10 EXON Missense_I287V exm571942 6 111527879 [T/C] NM_018593 SLC16A10 EXON Nonsense_R343X exm2274174 6 111543259 [A/G] NM_018593 SLC16A10 EXON Missense_V457I exm571958 6 111543412 [A/C] NM_018593 SLC16A10 EXON Missense_K508Q exm571977 6 111583554 [G/C] NM_153369 KIAA1919 EXON Missense_R41P exm571981 6 111585045 [T/C] NM_153369 KIAA1919 EXON Missense_S70L exm571984 6 111585092 [A/G] NM_153369 KIAA1919 EXON Missense_I86V exm571988 6 111587079 [T/G] NM_153369 KIAA1919 EXON Missense_G105V exm571989 6 111587081 [A/G] NM_153369 KIAA1919 EXON Missense_G106S exm571993 6 111587204 [A/G] NM_153369 KIAA1919 EXON Missense_T147A exm571995 6 111587259 [T/C] NM_153369 KIAA1919 EXON Missense_S165L exm571999 6 111587311 [A/T] NM_153369 KIAA1919 EXON Missense_L182F exm2108715 6 111587456 [T/C] NM_153369 KIAA1919 EXON Missense_L231F exm572008 6 111587621 [A/G] NM_153369 KIAA1919 EXON Missense_I286V exm2108716 6 111587643 [A/C] NM_153369 KIAA1919 EXON Missense_Q293P exm572024 6 111588039 [A/G] NM_153369 KIAA1919 EXON Missense_Q425R exm572030 6 111588192 [T/C] NM_153369 KIAA1919 EXON Missense_T476M exm572035 6 111588317 [A/G] NM_153369 KIAA1919 EXON Missense_V518I exm572044 6 111628626 [T/C] NM_002912 REV3L EXON Missense_V3064I exm2108733 6 111628730 [T/C] NM_002912 REV3L EXON Missense_R3029Q exm572053 6 111631172 [A/G] NM_002912 REV3L EXON Missense_P2976S exm2243000 6 111643838 [T/C] NM_002912 REV3L EXON Missense_R2762Q exm572080 6 111650832 [T/C] NM_002912 REV3L EXON Missense_R2715Q exm572082 6 111652898 [T/C] NM_002912 REV3L EXON Missense_N2672S exm572091 6 111654567 [A/G] NM_002912 REV3L EXON Missense_R2562C exm572100 6 111670426 [T/C] NM_002912 REV3L EXON Missense_N2472D exm572106 6 111672903 [A/G] NM_002912 REV3L EXON Missense_C2426R exm-rs240993 6 111673714 [T/C] NM_002912 REV3L Silent exm572110 6 111678301 [A/G] NM_002912 REV3L EXON Missense_I2367T exm572119 6 111685180 [T/C] NM_002912 REV3L EXON Missense_N2252S exm572136 6 111688647 [A/C] NM_002912 REV3L EXON Missense_I2115S exm572137 6 111688653 [T/C] NM_002912 REV3L EXON Missense_Y2113C exm572140 6 111688681 [T/C] NM_002912 REV3L EXON Missense_E2104K exm572144 6 111688809 [T/G] NM_002912 REV3L EXON Missense_P2061H exm572149 6 111688947 [A/T] NM_002912 REV3L EXON Missense_E2015V exm572150 6 111689050 [T/G] NM_002912 REV3L EXON Missense_S1981R exm572151 6 111689082 [T/C] NM_002912 REV3L EXON Missense_R1970H exm572157 6 111689224 [G/C] NM_002912 REV3L EXON Missense_G1923R exm572161 6 111693952 [A/C] NM_002912 REV3L EXON Missense_S1869I exm572168 6 111694114 [T/C] NM_002912 REV3L EXON Missense_N1815S exm572169 6 111694124 [G/C] NM_002912 REV3L EXON Missense_D1812H exm572170 6 111694187 [A/G] NM_002912 REV3L EXON Missense_P1791S exm572181 6 111694343 [A/G] NM_002912 REV3L EXON Missense_R1739C exm572217 6 111695126 [T/C] NM_002912 REV3L EXON Missense_G1478S exm572225 6 111695281 [T/C] NM_002912 REV3L EXON Missense_Q1426R exm572231 6 111695344 [T/C] NM_002912 REV3L EXON Missense_N1405S exm572234 6 111695438 [T/C] NM_002912 REV3L EXON Missense_I1374V exm572235 6 111695444 [T/C] NM_002912 REV3L EXON Missense_T1372A exm2108780 6 111695524 [T/A] NM_002912 REV3L EXON Missense_M1345K exm572237 6 111695554 [T/C] NM_002912 REV3L EXON Missense_N1335S exm572238 6 111695579 [T/C] NM_002912 REV3L EXON Missense_I1327V exm572241 6 111695631 [A/C] NM_002912 REV3L EXON Missense_Q1309H exm572244 6 111695653 [G/C] NM_002912 REV3L EXON Missense_S1302T exm572253 6 111695856 [A/C] NM_002912 REV3L EXON Missense_Q1234H exm572255 6 111695863 [T/A] NM_002912 REV3L EXON Missense_K1232I exm572256 6 111695887 [A/G] NM_002912 REV3L EXON Missense_T1224I exm572258 6 111695899 [A/G] NM_002912 REV3L EXON Missense_S1220L exm572263 6 111695954 [T/C] NM_002912 REV3L EXON Missense_D1202N exm572264 6 111695999 [T/C] NM_002912 REV3L EXON Missense_V1187I exm572270 6 111696091 [T/C] NM_002912 REV3L EXON Missense_Y1156C exm572275 6 111696203 [T/C] NM_002912 REV3L EXON Missense_S1119G exm572280 6 111696278 [T/C] NM_002912 REV3L EXON Missense_A1094T exm572286 6 111696466 [A/G] NM_002912 REV3L EXON Missense_P1031L exm2257457 6 111696756 [A/T] NM_002912 REV3L EXON Synonymous_S934S exm572303 6 111696850 [A/G] NM_002912 REV3L EXON Missense_T903M exm572306 6 111696913 [T/C] NM_002912 REV3L EXON Missense_R882H exm572312 6 111697090 [A/G] NM_002912 REV3L EXON Missense_P823L exm572315 6 111697106 [T/C] NM_002912 REV3L EXON Missense_T818A exm572323 6 111697367 [G/C] NM_002912 REV3L EXON Missense_A731P exm572333 6 111697661 [T/C] NM_002912 REV3L EXON Missense_S633G exm572335 6 111697688 [A/C] NM_002912 REV3L EXON Missense_S624A exm572343 6 111697883 [T/C] NM_002912 REV3L EXON Missense_I559V exm572345 6 111697900 [A/G] NM_002912 REV3L EXON Missense_L553P exm572348 6 111698948 [T/C] NM_002912 REV3L EXON Missense_S518N exm572351 6 111699015 [T/C] NM_002912 REV3L EXON Missense_T496A exm572357 6 111701339 [T/G] NM_002912 REV3L EXON Missense_P434T exm572362 6 111702530 [T/A] NM_002912 REV3L EXON Missense_F405Y exm572367 6 111709004 [T/C] NM_002912 REV3L EXON Missense_M354V exm2108807 6 111709006 [T/C] NM_002912 REV3L EXON Missense_N353S exm2257458 6 111709014 [T/G] NM_002912 REV3L EXON Synonymous_T350T exm2270512 6 111870090 [T/C] NR_034108,NR_034109,NR_034110 TRAF3IP2-AS1,TRAF3IP2-AS1,TRAF3IP2-AS1 Silent,Silent,Silent exm572412 6 111880723 [T/C] NR_034108,NR_034109,NR_034110,NM_001164281,NM_001164283,NR_028338,NM_147686 TRAF3IP2-AS1,TRAF3IP2-AS1,TRAF3IP2-AS1,TRAF3IP2,TRAF3IP2,TRAF3IP2,TRAF3IP2 EXON Silent,Silent,Silent,Missense_H527R,Missense_H72R,Silent,Missense_H528R exm572416 6 111887683 [A/C] NR_034108,NR_034109,NR_034110,NM_001164281,NM_001164283,NR_028338,NM_147686 TRAF3IP2-AS1,TRAF3IP2-AS1,TRAF3IP2-AS1,TRAF3IP2,TRAF3IP2,TRAF3IP2,TRAF3IP2 EXON Silent,Silent,Silent,Missense_D479E,Missense_D24E,Silent,Missense_D480E exm572420 6 111888841 [A/G] NR_034108,NR_034109,NR_034110,NM_001164281,NR_028338,NM_147686 TRAF3IP2-AS1,TRAF3IP2-AS1,TRAF3IP2-AS1,TRAF3IP2,TRAF3IP2,TRAF3IP2 EXON Silent,Silent,Silent,Missense_R449C,Silent,Missense_R449C exm572427 6 111896863 [T/C] NR_034108,NR_034109,NR_034110,NM_001164281,NR_028338,NM_147686 TRAF3IP2-AS1,TRAF3IP2-AS1,TRAF3IP2-AS1,TRAF3IP2,TRAF3IP2,TRAF3IP2 EXON Silent,Silent,Silent,Missense_N395S,Silent,Missense_N395S exm572431 6 111896989 [T/C] NR_034108,NR_034109,NR_034110,NM_001164281,NR_028338,NM_147686 TRAF3IP2-AS1,TRAF3IP2-AS1,TRAF3IP2-AS1,TRAF3IP2,TRAF3IP2,TRAF3IP2 EXON Silent,Silent,Silent,Missense_G353D,Silent,Missense_G353D exm572435 6 111901453 [T/G] NR_034108,NR_034109,NM_001164281,NR_028338,NM_147686 TRAF3IP2-AS1,TRAF3IP2-AS1,TRAF3IP2,TRAF3IP2,TRAF3IP2 EXON Silent,Silent,Missense_H323Q,Silent,Missense_H323Q exm572436 6 111901465 [T/G] NR_034108,NR_034109,NM_001164281,NR_028338,NM_147686 TRAF3IP2-AS1,TRAF3IP2-AS1,TRAF3IP2,TRAF3IP2,TRAF3IP2 EXON Silent,Silent,Missense_S319R,Silent,Missense_S319R exm572439 6 111912471 [G/C] NR_034108,NR_034109,NM_001164281,NR_028338,NM_147686 TRAF3IP2-AS1,TRAF3IP2-AS1,TRAF3IP2,TRAF3IP2,TRAF3IP2 EXON Silent,Silent,Missense_H273Q,Silent,Missense_H273Q exm572440 6 111912532 [C/G] NR_034108,NR_034109,NM_001164281,NR_028338,NM_147686 TRAF3IP2-AS1,TRAF3IP2-AS1,TRAF3IP2,TRAF3IP2,TRAF3IP2 EXON Silent,Silent,Missense_P253R,Silent,Missense_P253R exm2108849 6 111912599 [A/G] NR_034108,NR_034109,NM_001164281,NR_028338,NM_147686 TRAF3IP2-AS1,TRAF3IP2-AS1,TRAF3IP2,TRAF3IP2,TRAF3IP2 EXON Silent,Silent,Missense_L231F,Silent,Missense_L231F exm2277299 6 111912599 [C/G] NR_034108,NR_034109,NM_001164281,NR_028338,NM_147686 TRAF3IP2-AS1,TRAF3IP2-AS1,TRAF3IP2,TRAF3IP2,TRAF3IP2 EXON Silent,Silent,Missense_L231V,Silent,Missense_L231V exm572444 6 111912641 [T/G] NR_034108,NR_034109,NM_001164281,NR_028338,NM_147686 TRAF3IP2-AS1,TRAF3IP2-AS1,TRAF3IP2,TRAF3IP2,TRAF3IP2 EXON Silent,Silent,Missense_P217T,Silent,Missense_P217T exm572457 6 111913009 [T/C] NR_034108,NR_034109,NM_001164281,NR_028338,NM_147686 TRAF3IP2-AS1,TRAF3IP2-AS1,TRAF3IP2,TRAF3IP2,TRAF3IP2 EXON Silent,Silent,Missense_S94N,Silent,Missense_S94N exm572461 6 111913053 [G/C] NR_034108,NR_034109,NM_001164281,NR_028338,NM_147686 TRAF3IP2-AS1,TRAF3IP2-AS1,TRAF3IP2,TRAF3IP2,TRAF3IP2 EXON Silent,Silent,Missense_Q79H,Silent,Missense_Q79H exm572462 6 111913058 [G/C] NR_034108,NR_034109,NM_001164281,NR_028338,NM_147686 TRAF3IP2-AS1,TRAF3IP2-AS1,TRAF3IP2,TRAF3IP2,TRAF3IP2 EXON Silent,Silent,Missense_R78G,Silent,Missense_R78G exm572464 6 111913070 [A/G] NR_034108,NR_034109,NM_001164281,NR_028338,NM_147686 TRAF3IP2-AS1,TRAF3IP2-AS1,TRAF3IP2,TRAF3IP2,TRAF3IP2 EXON Silent,Silent,Missense_R74W,Silent,Missense_R74W exm572465 6 111913099 [T/G] NR_034108,NR_034109,NM_001164281,NR_028338,NM_147686 TRAF3IP2-AS1,TRAF3IP2-AS1,TRAF3IP2,TRAF3IP2,TRAF3IP2 EXON Silent,Silent,Missense_H64P,Silent,Missense_H64P exm572471 6 111913262 [T/C] NR_034108,NR_034109,NM_001164281,NR_028338,NM_147686 TRAF3IP2-AS1,TRAF3IP2-AS1,TRAF3IP2,TRAF3IP2,TRAF3IP2 EXON Silent,Silent,Missense_D10N,Silent,Missense_D10N exm572473 6 111913282 [T/C] NR_034108,NR_034109,NM_001164281,NR_028338,NM_147686 TRAF3IP2-AS1,TRAF3IP2-AS1,TRAF3IP2,TRAF3IP2,TRAF3IP2 EXON Silent,Silent,Missense_R3Q,Silent,Missense_R3Q exm2270386 6 111935682 [T/G] exm572481 6 111983038 [G/C] NM_002037,NM_153047,NM_153048 FYN,FYN,FYN EXON Missense_D506E,Missense_D503E,Missense_D451E exm2277300 6 111983092 [T/C] NM_002037,NM_153047,NM_153048 FYN,FYN,FYN EXON Synonymous_P488P,Synonymous_P485P,Synonymous_P433P exm572490 6 112015652 [T/C] NM_002037,NM_153047,NM_153048 FYN,FYN,FYN EXON Missense_N400S,Missense_N397S,Missense_N345S exm572501 6 112017553 [A/G] NM_002037,NM_153047,NM_153048 FYN,FYN,FYN EXON Synonymous_H323H,Synonymous_H320H,Synonymous_H268H exm572504 6 112020726 [A/G] NM_002037,NM_153047,NM_153048 FYN,FYN,FYN EXON Silent,Missense_V282A,Silent exm572512 6 112024098 [T/G] NM_002037,NM_153047,NM_153048 FYN,FYN,FYN EXON Missense_Q229H,Missense_Q229H,Missense_Q229H exm2243015 6 112041045 [T/C] NM_002037,NM_153047,NM_153048 FYN,FYN,FYN EXON Synonymous_S70S,Synonymous_S70S,Synonymous_S70S exm572524 6 112041068 [T/C] NM_002037,NM_153047,NM_153048 FYN,FYN,FYN EXON Missense_V63I,Missense_V63I,Missense_V63I exm572526 6 112041081 [A/G] NM_002037,NM_153047,NM_153048 FYN,FYN,FYN EXON Synonymous_G58G,Synonymous_G58G,Synonymous_G58G exm572527 6 112041087 [A/G] NM_002037,NM_153047,NM_153048 FYN,FYN,FYN EXON Synonymous_A56A,Synonymous_A56A,Synonymous_A56A exm2266333 6 112121228 [A/G] NM_002037 FYN Silent exm572541 6 112375532 [G/C] NM_003880,NM_198239 WISP3,WISP3 EXON Silent,Missense_P9R exm572556 6 112382236 [A/C] NM_003880,NM_198239 WISP3,WISP3 EXON Missense_P31T,Missense_P49T exm572558 6 112382275 [T/C] NM_003880,NM_198239 WISP3,WISP3 EXON Missense_R44C,Missense_R62C exm572559 6 112382293 [T/C] NM_003880,NM_198239 WISP3,WISP3 EXON Missense_W50R,Missense_W68R exm572561 6 112382313 [T/G] NM_003880,NM_198239 WISP3,WISP3 EXON Missense_Q56H,Missense_Q74H exm572562 6 112382323 [T/C] NM_003880,NM_198239 WISP3,WISP3 EXON Missense_R60C,Missense_R78C exm572563 6 112382324 [A/G] NM_003880,NM_198239 WISP3,WISP3 EXON Missense_R60H,Missense_R78H exm572567 6 112382393 [A/G] NM_003880,NM_198239 WISP3,WISP3 EXON Missense_G83E,Missense_G101E exm572569 6 112382455 [G/C] NM_003880,NM_198239 WISP3,WISP3 EXON Missense_V104L,Missense_V122L exm572570 6 112382459 [A/T] NM_003880,NM_198239 WISP3,WISP3 EXON Missense_D105V,Missense_D123V exm572583 6 112389407 [C/G] NM_003880,NM_198239 WISP3,WISP3 Silent,Silent exm572588 6 112389575 [A/G] NM_003880,NM_198239 WISP3,WISP3 EXON Missense_D253N,Missense_D271N exm572589 6 112389600 [A/G] NM_003880,NM_198239 WISP3,WISP3 EXON Missense_K261R,Missense_K279R exm572592 6 112390650 [A/C] NM_003880,NM_198239 WISP3,WISP3 EXON Missense_I298L,Missense_I316L exm572609 6 112393155 [A/G] NM_016262 TUBE1 EXON Missense_P407S exm572614 6 112393215 [T/C] NM_016262 TUBE1 EXON Missense_V387I exm572626 6 112397170 [A/G] NM_016262 TUBE1 EXON Missense_I261T exm572628 6 112397201 [A/G] NM_016262 TUBE1 EXON Missense_H251Y exm572629 6 112397236 [A/C] NM_016262 TUBE1 EXON Missense_L239R exm572631 6 112397269 [T/C] NM_016262 TUBE1 EXON Missense_G228E exm572640 6 112397650 [A/C] NM_016262 TUBE1 EXON Missense_Y171D exm572641 6 112397665 [T/C] NM_016262 TUBE1 EXON Missense_E166K exm572647 6 112400902 [A/G] NM_016262 TUBE1 EXON Missense_F128L exm2243022 6 112400946 [T/C] NM_016262 TUBE1 EXON Missense_H113R exm2108959 6 112405393 [T/C] NM_016262 TUBE1 EXON Missense_R70Q exm572656 6 112408628 [A/C] NM_016262 TUBE1 EXON Missense_S4A exm572660 6 112420500 [T/G] NM_001033564 FAM229B EXON Missense_F5C exm572662 6 112420515 [A/G] NM_001033564 FAM229B EXON Missense_R10K exm572665 6 112421925 [A/G] NM_001033564 FAM229B EXON Missense_V60I exm572666 6 112421934 [A/T] NM_001033564 FAM229B EXON Missense_Y63N exm572668 6 112421976 [A/G] NM_001033564 FAM229B EXON Missense_M77V exm2273425 6 112422027 [A/G] NM_001033564 FAM229B EXON Silent exm572671 6 112430662 [A/G] NM_001105206,NM_001105207,NM_002290 LAMA4,LAMA4,LAMA4 EXON Missense_I1817T,Missense_I1810T,Missense_I1810T exm572672 6 112430669 [T/C] NM_001105206,NM_001105207,NM_002290 LAMA4,LAMA4,LAMA4 EXON Missense_V1815I,Missense_V1808I,Missense_V1808I exm572678 6 112430768 [A/G] NM_001105206,NM_001105207,NM_002290 LAMA4,LAMA4,LAMA4 EXON Missense_R1782C,Missense_R1775C,Missense_R1775C exm572683 6 112435335 [A/G] NM_001105206,NM_001105207,NM_002290 LAMA4,LAMA4,LAMA4 EXON Missense_P1757L,Missense_P1750L,Missense_P1750L exm572701 6 112440388 [A/C] NM_001105206,NM_001105207,NM_002290 LAMA4,LAMA4,LAMA4 EXON Missense_A1598S,Missense_A1591S,Missense_A1591S exm572710 6 112441505 [T/C] NM_001105206,NM_001105207,NM_002290 LAMA4,LAMA4,LAMA4 EXON Missense_N1549S,Missense_N1542S,Missense_N1542S exm572711 6 112441506 [A/T] NM_001105206,NM_001105207,NM_002290 LAMA4,LAMA4,LAMA4 EXON Missense_N1549Y,Missense_N1542Y,Missense_N1542Y exm572716 6 112441658 [T/C] NM_001105206,NM_001105207,NM_002290 LAMA4,LAMA4,LAMA4 EXON Missense_R1498H,Missense_R1491H,Missense_R1491H exm2243023 6 112443400 [T/C] NM_001105206,NM_001105207,NM_002290 LAMA4,LAMA4,LAMA4 EXON Missense_G1431E,Missense_G1424E,Missense_G1424E exm572735 6 112452195 [T/C] NM_001105206,NM_001105207,NM_002290 LAMA4,LAMA4,LAMA4 EXON Missense_V1315I,Missense_V1308I,Missense_V1308I exm2108998 6 112453970 [A/G] NM_001105206,NM_001105207,NM_002290 LAMA4,LAMA4,LAMA4 EXON Synonymous_F1273F,Synonymous_F1266F,Synonymous_F1266F exm572748 6 112457383 [C/G] NM_001105206,NM_001105207,NM_002290 LAMA4,LAMA4,LAMA4 EXON Missense_P1119R,Missense_P1112R,Missense_P1112R exm572749 6 112457390 [T/C] NM_001105206,NM_001105207,NM_002290 LAMA4,LAMA4,LAMA4 EXON Missense_G1117S,Missense_G1110S,Missense_G1110S exm572751 6 112457432 [A/G] NM_001105206,NM_001105207,NM_002290 LAMA4,LAMA4,LAMA4 EXON Missense_R1103C,Missense_R1096C,Missense_R1096C exm572755 6 112460365 [T/C] NM_001105206,NM_001105207,NM_002290 LAMA4,LAMA4,LAMA4 EXON Missense_R1080Q,Missense_R1073Q,Missense_R1073Q exm572767 6 112460954 [T/C] NM_001105206,NM_001105207,NM_002290 LAMA4,LAMA4,LAMA4 EXON Missense_R1037Q,Missense_R1030Q,Missense_R1030Q exm572770 6 112461009 [A/G] NM_001105206,NM_001105207,NM_002290 LAMA4,LAMA4,LAMA4 EXON Missense_Y1019H,Missense_Y1012H,Missense_Y1012H exm572771 6 112461010 [A/C] NM_001105206,NM_001105207,NM_002290 LAMA4,LAMA4,LAMA4 EXON Missense_L1018F,Missense_L1011F,Missense_L1011F exm572777 6 112461988 [T/C] NM_001105206,NM_001105207,NM_002290 LAMA4,LAMA4,LAMA4 EXON Missense_V984I,Missense_V977I,Missense_V977I exm572780 6 112462106 [A/C] NM_001105206,NM_001105207,NM_002290 LAMA4,LAMA4,LAMA4 EXON Missense_K944N,Missense_K937N,Missense_K937N exm572781 6 112462563 [T/C] NM_001105206,NM_001105207,NM_002290 LAMA4,LAMA4,LAMA4 EXON Missense_E937G,Missense_E930G,Missense_E930G exm2257462 6 112463333 [A/G] NM_001105206,NM_001105207,NM_002290 LAMA4,LAMA4,LAMA4 EXON Synonymous_L885L,Synonymous_L878L,Synonymous_L878L exm572798 6 112463419 [T/C] NM_001105206,NM_001105207,NM_002290 LAMA4,LAMA4,LAMA4 EXON Missense_A857T,Missense_A850T,Missense_A850T exm572804 6 112466091 [A/G] NM_001105206,NM_001105207,NM_002290 LAMA4,LAMA4,LAMA4 EXON Missense_R800C,Missense_R793C,Missense_R793C exm572812 6 112471715 [T/C] NM_001105206,NM_001105207,NM_002290 LAMA4,LAMA4,LAMA4 EXON Missense_R724K,Missense_R717K,Missense_R717K exm572822 6 112476767 [A/G] NM_001105206,NM_001105207,NM_002290 LAMA4,LAMA4,LAMA4 EXON Synonymous_D653D,Synonymous_D646D,Synonymous_D646D exm572829 6 112479963 [T/G] NM_001105206,NM_001105207,NM_002290 LAMA4,LAMA4,LAMA4 EXON Missense_D596E,Missense_D589E,Missense_D589E exm572836 6 112486396 [T/C] NM_001105206,NM_001105207,NM_002290 LAMA4,LAMA4,LAMA4 EXON Missense_R545H,Missense_R538H,Missense_R538H exm572837 6 112486397 [A/G] NM_001105206,NM_001105207,NM_002290 LAMA4,LAMA4,LAMA4 EXON Missense_R545C,Missense_R538C,Missense_R538C exm2257463 6 112486416 [T/C] NM_001105206,NM_001105207,NM_002290 LAMA4,LAMA4,LAMA4 EXON Synonymous_A538A,Synonymous_A531A,Synonymous_A531A exm572852 6 112493872 [A/G] NM_001105206,NM_001105207,NM_002290 LAMA4,LAMA4,LAMA4 EXON Missense_Y498H,Missense_Y491H,Missense_Y491H exm572853 6 112493889 [A/T] NM_001105206,NM_001105207,NM_002290 LAMA4,LAMA4,LAMA4 EXON Missense_L492H,Missense_L485H,Missense_L485H exm572866 6 112496554 [A/G] NM_001105206,NM_001105207,NM_002290 LAMA4,LAMA4,LAMA4 EXON Missense_R440W,Missense_R433W,Missense_R433W exm572871 6 112496595 [A/G] NM_001105206,NM_001105207,NM_002290 LAMA4,LAMA4,LAMA4 EXON Missense_M426T,Missense_M419T,Missense_M419T exm572897 6 112508717 [T/C] NM_001105206,NM_001105207,NM_002290 LAMA4,LAMA4,LAMA4 EXON Missense_V301I,Missense_V294I,Missense_V294I exm572903 6 112508755 [G/C] NM_001105206,NM_001105207,NM_002290 LAMA4,LAMA4,LAMA4 EXON Missense_A288G,Missense_A281G,Missense_A281G exm572906 6 112508770 [T/G] NM_001105206,NM_001105207,NM_002290 LAMA4,LAMA4,LAMA4 EXON Missense_A283E,Missense_A276E,Missense_A276E exm572909 6 112510336 [T/C] NM_001105206,NM_001105207,NM_002290 LAMA4,LAMA4,LAMA4 EXON Missense_T264A,Missense_T264A,Missense_T264A exm572916 6 112512882 [A/G] NM_001105206,NM_001105207,NM_002290 LAMA4,LAMA4,LAMA4 EXON Missense_A225V,Missense_A225V,Missense_A225V exm572918 6 112512888 [T/C] NM_001105206,NM_001105207,NM_002290 LAMA4,LAMA4,LAMA4 EXON Missense_R223H,Missense_R223H,Missense_R223H exm2109065 6 112512915 [T/C] NM_001105206,NM_001105207,NM_002290 LAMA4,LAMA4,LAMA4 EXON Missense_R214H,Missense_R214H,Missense_R214H exm572924 6 112512978 [A/G] NM_001105206,NM_001105207,NM_002290 LAMA4,LAMA4,LAMA4 EXON Missense_S193L,Missense_S193L,Missense_S193L exm572927 6 112513042 [T/C] NM_001105206,NM_001105207,NM_002290 LAMA4,LAMA4,LAMA4 EXON Missense_G172S,Missense_G172S,Missense_G172S exm572933 6 112522809 [T/C] NM_001105206,NM_001105207,NM_002290 LAMA4,LAMA4,LAMA4 EXON Missense_R168K,Missense_R168K,Missense_R168K exm572934 6 112522827 [C/G] NM_001105206,NM_001105207,NM_002290 LAMA4,LAMA4,LAMA4 EXON Missense_A162G,Missense_A162G,Missense_A162G exm572936 6 112522852 [A/G] NM_001105206,NM_001105207,NM_002290 LAMA4,LAMA4,LAMA4 EXON Missense_R154W,Missense_R154W,Missense_R154W exm572944 6 112528337 [A/G] NM_001105206,NM_001105207,NM_002290 LAMA4,LAMA4,LAMA4 EXON Missense_R103W,Missense_R103W,Missense_R103W exm572948 6 112537586 [T/C] NM_001105206,NM_001105207,NM_002290 LAMA4,LAMA4,LAMA4 EXON Missense_G94S,Missense_G94S,Missense_G94S exm572949 6 112537612 [T/C] NM_001105206,NM_001105207,NM_002290 LAMA4,LAMA4,LAMA4 EXON Missense_N85S,Missense_N85S,Missense_N85S exm2243029 6 112537651 [A/G] NM_001105206,NM_001105207,NM_002290 LAMA4,LAMA4,LAMA4 EXON Missense_F72S,Missense_F72S,Missense_F72S exm572955 6 112575027 [C/G] NM_001105206,NM_001105207,NM_002290,NM_001105209,NM_001105208 LAMA4,LAMA4,LAMA4,LAMA4,LAMA4 EXON Silent,Silent,Silent,Nonsense_S109X,Nonsense_S109X exm572966 6 112575331 [A/G] NM_001105206,NM_001105207,NM_002290,NM_001105209,NM_001105208 LAMA4,LAMA4,LAMA4,LAMA4,LAMA4 EXON Missense_R8C,Missense_R8C,Missense_R8C,Missense_R8C,Missense_R8C exm572975 6 112671145 [T/C] NM_001013734 RFPL4B EXON Nonsense_R79X exm572979 6 112671190 [T/C] NM_001013734 RFPL4B EXON Missense_R94W exm572980 6 112671196 [G/C] NM_001013734 RFPL4B EXON Missense_D96H exm572981 6 112671209 [A/C] NM_001013734 RFPL4B EXON Missense_D100A exm572983 6 112671245 [A/G] NM_001013734 RFPL4B EXON Missense_N112S exm572984 6 112671262 [T/C] NM_001013734 RFPL4B EXON Nonsense_Q118X exm572988 6 112671340 [A/G] NM_001013734 RFPL4B EXON Missense_G144S exm572996 6 112671523 [T/C] NM_001013734 RFPL4B EXON Missense_R205C exm572999 6 112671611 [A/G] NM_001013734 RFPL4B EXON Missense_G234D exm573001 6 112671679 [A/G] NM_001013734 RFPL4B EXON Missense_N257D exm2264178 6 112942161 [A/C] exm2262021 6 113151042 [A/G] exm2266243 6 113486392 [A/G] exm2266335 6 113848016 [A/G] exm-rs9384878 6 113975118 [T/C] exm2270387 6 114196015 [T/C] exm573063 6 114265517 [T/G] NR_033441,NM_001527,NR_073443 HDAC2,HDAC2,HDAC2 EXON Silent,Missense_Q383H,Silent exm573126 6 114378722 [T/A] NM_153612 HS3ST5 EXON Missense_I247N exm573129 6 114378789 [T/G] NM_153612 HS3ST5 EXON Missense_K225Q exm573137 6 114379122 [A/G] NM_153612 HS3ST5 EXON Missense_P114S exm2243035 6 114379175 [A/G] NM_153612 HS3ST5 EXON Missense_I96T exm573141 6 114379184 [A/G] NM_153612 HS3ST5 EXON Missense_A93V exm573142 6 114379199 [T/C] NM_153612 HS3ST5 EXON Missense_Q88R exm573147 6 114379287 [A/G] NM_153612 HS3ST5 EXON Missense_R59C exm573154 6 114383925 [T/C] NM_153612 HS3ST5 EXON Missense_A29T exm2266244 6 114848711 [A/G] exm2266245 6 115191061 [A/G] exm2270388 6 115772695 [T/C] exm2270514 6 116076012 [T/C] exm573160 6 116263644 [T/C] NM_002031 FRK EXON Missense_R484H exm573179 6 116264311 [A/C] NM_002031 FRK EXON Missense_I393R exm573180 6 116264315 [T/C] NM_002031 FRK EXON Missense_E392K exm573186 6 116265462 [A/G] NM_002031 FRK EXON Missense_V362A exm573192 6 116265588 [T/C] NM_002031 FRK EXON Missense_N320S exm573210 6 116289797 [T/C] NM_002031 FRK EXON Missense_S191N exm2109155 6 116289836 [A/G] NM_002031 FRK EXON Missense_T178M exm573215 6 116289888 [T/C] NM_002031 FRK EXON Missense_V161I exm573219 6 116325108 [A/G] NM_002031 FRK EXON Missense_S133L exm573220 6 116325131 [A/C] NM_002031 FRK EXON Missense_D125E exm573222 6 116325142 [T/C] NM_002031 FRK EXON Missense_G122R exm573223 6 116325150 [C/G] NM_002031 FRK EXON Missense_G119A exm573225 6 116381177 [T/C] NM_002031 FRK EXON Missense_I100V exm573226 6 116381179 [A/T] NM_002031 FRK EXON Missense_Y99F exm573231 6 116381242 [A/C] NM_002031 FRK EXON Missense_G78V exm2109165 6 116381470 [T/C] NM_002031 FRK EXON Missense_S2N exm-rs1999930 6 116387134 [T/C] exm573257 6 116429582 [A/G] NM_152729 NT5DC1 EXON Missense_N81D exm573258 6 116429591 [A/G] NM_152729 NT5DC1 EXON Missense_V84I exm2243040 6 116439031 [A/G] NM_152729 NT5DC1 EXON Missense_N151S exm573273 6 116439063 [A/G] NM_152729 NT5DC1 EXON Missense_I162V exm573279 6 116441241 [T/C] NM_152729,NM_000493 NT5DC1,COL10A1 EXON Silent,Missense_M680V exm573294 6 116441632 [T/C] NM_152729,NM_000493 NT5DC1,COL10A1 EXON Silent,Missense_M549I exm573295 6 116441634 [T/C] NM_152729,NM_000493 NT5DC1,COL10A1 EXON Silent,Missense_M549V exm573296 6 116441646 [G/C] NM_152729,NM_000493 NT5DC1,COL10A1 EXON Silent,Missense_G545R exm573297 6 116441668 [A/G] NM_152729,NM_000493 NT5DC1,COL10A1 EXON Silent,Synonymous_T537T exm2257472 6 116441668 [A/G] NM_152729,NM_000493 NT5DC1,COL10A1 EXON Silent,Synonymous_T537T exm573305 6 116441915 [A/C] NM_152729,NM_000493 NT5DC1,COL10A1 EXON Silent,Missense_G455V exm573313 6 116442018 [A/G] NM_152729,NM_000493 NT5DC1,COL10A1 EXON Silent,Missense_P421S exm573315 6 116442035 [T/C] NM_152729,NM_000493 NT5DC1,COL10A1 EXON Silent,Missense_G415E exm2109199 6 116442098 [C/G] NM_152729,NM_000493 NT5DC1,COL10A1 EXON Silent,Missense_P394R exm573330 6 116442506 [T/C] NM_152729,NM_000493 NT5DC1,COL10A1 EXON Silent,Missense_R258Q exm573337 6 116442654 [T/C] NM_152729,NM_000493 NT5DC1,COL10A1 EXON Silent,Missense_G209S exm573338 6 116442686 [T/C] NM_152729,NM_000493 NT5DC1,COL10A1 EXON Silent,Missense_R198H exm573344 6 116442866 [T/C] NM_152729,NM_000493 NT5DC1,COL10A1 EXON Silent,Missense_R138Q exm573345 6 116442897 [T/C] NM_152729,NM_000493 NT5DC1,COL10A1 EXON Silent,Missense_D128N exm573347 6 116442922 [C/G] NM_152729,NM_000493 NT5DC1,COL10A1 EXON Silent,Missense_E119D exm573350 6 116443023 [T/C] NM_152729,NM_000493 NT5DC1,COL10A1 EXON Silent,Missense_G86R exm573354 6 116446506 [A/T] NM_152729,NM_000493 NT5DC1,COL10A1 EXON Silent,Missense_S50R exm573355 6 116446576 [A/G] NM_152729,NM_000493 NT5DC1,COL10A1 EXON Silent,Missense_M27T exm573357 6 116446586 [A/G] NM_152729,NM_000493 NT5DC1,COL10A1 EXON Silent,Nonsense_R24X exm573358 6 116446613 [A/C] NM_152729,NM_000493 NT5DC1,COL10A1 EXON Silent,Missense_L15V exm573359 6 116446633 [A/C] NM_152729,NM_000493 NT5DC1,COL10A1 EXON Silent,Missense_L8W exm2257473 6 116478187 [T/C] NM_152729 NT5DC1 Silent exm2264209 6 116520348 [A/C] NM_152729 NT5DC1 Silent exm573368 6 116544294 [A/G] NM_152729 NT5DC1 EXON Missense_E268K exm573375 6 116559406 [T/G] NM_152729 NT5DC1 EXON Missense_S326R exm573379 6 116559477 [A/G] NM_152729 NT5DC1 EXON Missense_E350G exm573394 6 116573958 [T/C] NM_021648 TSPYL4 EXON Missense_S405N exm573402 6 116574322 [C/G] NM_021648 TSPYL4 EXON Missense_V284L exm2109226 6 116574330 [T/C] NM_021648 TSPYL4 EXON Missense_N281S exm573403 6 116574371 [T/C] NM_021648 TSPYL4 EXON Missense_M267I exm573405 6 116574449 [A/C] NM_021648 TSPYL4 EXON Missense_Q241H exm573406 6 116574452 [T/C] NM_021648 TSPYL4 EXON Missense_M240I exm573417 6 116574739 [A/G] NM_021648 TSPYL4 EXON Missense_P145S exm573422 6 116574940 [T/C] NM_021648 TSPYL4 EXON Missense_A78T exm573424 6 116574977 [A/C] NM_021648 TSPYL4 EXON Missense_D65E exm573427 6 116575083 [A/C] NM_021648 TSPYL4 EXON Missense_R30L exm573428 6 116575089 [A/G] NM_021648 TSPYL4 EXON Missense_P28L exm573430 6 116575116 [T/G] NM_021648 TSPYL4 EXON Missense_A19D exm573442 6 116599859 [T/C] NM_003309 TSPYL1 EXON Missense_T379A exm573443 6 116599896 [T/G] NM_003309 TSPYL1 EXON Missense_F366L exm573446 6 116599927 [A/G] NM_003309 TSPYL1 EXON Missense_I356T exm573467 6 116600453 [T/C] NM_003309 TSPYL1 EXON Missense_A181T exm573481 6 116600602 [A/G] NM_003309 TSPYL1 EXON Missense_A131V exm573483 6 116600616 [A/C] NM_003309 TSPYL1 EXON Missense_Q126H exm2109236 6 116600621 [A/C] NM_003309 TSPYL1 EXON Missense_V125F exm573486 6 116600716 [A/G] NM_003309 TSPYL1 EXON Missense_A93V exm573488 6 116600738 [T/C] NM_003309 TSPYL1 EXON Missense_V86I exm2275375 6 116600927 [A/G] NM_003309 TSPYL1 EXON Nonsense_Q23X exm573502 6 116720448 [T/A] NM_001080976,NM_013352 DSE,DSE EXON Missense_F12Y,Missense_F12Y exm573503 6 116720466 [T/G] NM_001080976,NM_013352 DSE,DSE EXON Missense_C18F,Missense_C18F exm573505 6 116720487 [T/C] NM_001080976,NM_013352 DSE,DSE EXON Missense_T25I,Missense_T25I exm573508 6 116720508 [T/C] NM_001080976,NM_013352 DSE,DSE EXON Missense_M32T,Missense_M32T exm573509 6 116720514 [T/C] NM_001080976,NM_013352 DSE,DSE EXON Missense_P34L,Missense_P34L exm573525 6 116720772 [T/C] NM_001080976,NM_013352 DSE,DSE EXON Missense_I120T,Missense_I120T exm-rs2227125 6 116721656 [A/G] NM_001080976,NM_013352 DSE,DSE Silent,Silent exm2264229 6 116756773 [T/C] NM_001080976,NM_013352 DSE,DSE EXON Missense_V381A,Missense_V381A exm573549 6 116756853 [A/G] NM_001080976,NM_013352 DSE,DSE EXON Missense_A408T,Missense_A408T exm573551 6 116757019 [A/G] NM_001080976,NM_013352 DSE,DSE EXON Missense_N463S,Missense_N463S exm2243048 6 116757367 [T/C] NM_001080976,NM_013352 DSE,DSE EXON Missense_P579L,Missense_P579L exm573565 6 116757592 [A/G] NM_001080976,NM_013352 DSE,DSE EXON Missense_R654Q,Missense_R654Q exm573571 6 116757751 [C/G] NM_001080976,NM_013352 DSE,DSE EXON Missense_S707C,Missense_S707C exm573588 6 116758266 [T/C] NM_001080976,NM_013352 DSE,DSE EXON Missense_R879W,Missense_R879W exm573589 6 116758282 [A/G] NM_001080976,NM_013352 DSE,DSE EXON Missense_R884Q,Missense_R884Q exm573590 6 116758318 [T/G] NM_001080976,NM_013352 DSE,DSE EXON Missense_L896R,Missense_L896R exm573598 6 116758473 [T/C] NM_001080976,NM_013352 DSE,DSE EXON Missense_W948R,Missense_W948R exm573602 6 116783102 [T/C] NM_001010919,NM_001276460 FAM26F,FAM26F EXON Missense_F4L,Silent exm573615 6 116783330 [A/G] NM_001010919,NM_001276460 FAM26F,FAM26F EXON Missense_G80R,Silent exm573621 6 116783585 [G/C] NM_001010919,NM_001276460 FAM26F,FAM26F EXON Missense_D165H,Silent exm573623 6 116783598 [A/G] NM_001010919,NM_001276460 FAM26F,FAM26F EXON Missense_D169G,Silent exm573624 6 116783619 [T/G] NM_001010919,NM_001276460 FAM26F,FAM26F Silent,Silent exm573634 6 116784682 [G/C] NM_001010919,NM_001276460 FAM26F,FAM26F EXON Missense_M254I,Missense_M82I exm573636 6 116784759 [T/C] NM_001010919,NM_001276460 FAM26F,FAM26F EXON Missense_V280A,Missense_V108A exm573638 6 116784797 [A/G] NM_001010919,NM_001276460 FAM26F,FAM26F EXON Missense_E293K,Missense_E121K exm573640 6 116784850 [C/G] NM_001010919,NM_001276460 FAM26F,FAM26F EXON Missense_N310K,Missense_N138K exm573642 6 116818128 [T/C] NM_001139444 BET3L EXON Missense_G179R exm573647 6 116821709 [T/C] NM_001139444 BET3L EXON Missense_A121T exm573657 6 116833053 [T/C] NM_001139444,NM_153711 BET3L,FAM26E EXON Silent,Missense_L65P exm573661 6 116833092 [C/G] NM_001139444,NM_153711 BET3L,FAM26E EXON Silent,Missense_T78R exm2109277 6 116833161 [T/G] NM_001139444,NM_153711 BET3L,FAM26E EXON Silent,Missense_G101V exm573667 6 116833259 [A/C] NM_001139444,NM_153711 BET3L,FAM26E EXON Silent,Missense_S134R exm573678 6 116836826 [T/C] NM_001139444,NM_153711 BET3L,FAM26E EXON Silent,Missense_R202C exm573681 6 116836916 [A/G] NM_001139444,NM_153711 BET3L,FAM26E EXON Silent,Missense_D232N exm573687 6 116837100 [T/C] NM_001139444,NM_153711 BET3L,FAM26E EXON Silent,Missense_P293L exm573690 6 116837115 [T/C] NM_001139444,NM_153711 BET3L,FAM26E EXON Silent,Missense_T298M exm573693 6 116861591 [A/G] NM_001139444,NM_153036,NM_001256888,NM_001256889,NM_001256887 BET3L,FAM26D,FAM26D,FAM26D,FAM26D EXON Missense_F59L,Silent,Silent,Silent,Silent exm2109287 6 116879214 [A/G] NM_153036,NM_001256888,NM_001256889,NM_001256887 FAM26D,FAM26D,FAM26D,FAM26D EXON Missense_K76R,Missense_K118R,Missense_K76R,Missense_K119R exm573714 6 116879222 [T/C] NM_153036,NM_001256888,NM_001256889,NM_001256887 FAM26D,FAM26D,FAM26D,FAM26D EXON Missense_R79C,Missense_R121C,Missense_R79C,Missense_R122C exm573717 6 116879268 [T/C] NM_153036,NM_001256888,NM_001256889,NM_001256887 FAM26D,FAM26D,FAM26D,FAM26D EXON Missense_L94P,Missense_L136P,Missense_L94P,Missense_L137P exm573744 6 116910122 [A/G] NM_001007464,NM_016104,NM_015952 RWDD1,RWDD1,RWDD1 EXON Missense_E34K,Missense_E34K,Missense_E130K exm573755 6 116937877 [T/C] NM_001010892,NM_001161664 RSPH4A,RSPH4A EXON Missense_S31P,Missense_S31P exm573756 6 116937878 [T/C] NM_001010892,NM_001161664 RSPH4A,RSPH4A EXON Missense_S31F,Missense_S31F exm2274177 6 116938073 [T/C] NM_001010892,NM_001161664 RSPH4A,RSPH4A EXON Missense_P96L,Missense_P96L exm573765 6 116938093 [T/G] NM_001010892,NM_001161664 RSPH4A,RSPH4A EXON Missense_D103Y,Missense_D103Y exm573774 6 116938370 [C/G] NM_001010892,NM_001161664 RSPH4A,RSPH4A EXON Missense_P195R,Missense_P195R exm573775 6 116938382 [T/G] NM_001010892,NM_001161664 RSPH4A,RSPH4A EXON Missense_G199V,Missense_G199V exm573781 6 116943975 [A/G] NM_001010892,NM_001161664 RSPH4A,RSPH4A EXON Missense_R244H,Missense_R244H exm573789 6 116948871 [A/C] NM_001010892,NM_001161664 RSPH4A,RSPH4A EXON Missense_T334K,Missense_T334K exm573790 6 116948930 [T/C] NM_001010892,NM_001161664 RSPH4A,RSPH4A EXON Missense_R354C,Missense_R354C exm573792 6 116948950 [C/G] NM_001010892,NM_001161664 RSPH4A,RSPH4A EXON Missense_L360F,Missense_L360F exm573805 6 116949050 [A/G] NM_001010892,NM_001161664 RSPH4A,RSPH4A EXON Missense_G394R,Missense_G394R exm573810 6 116949134 [A/G] NM_001010892,NM_001161664 RSPH4A,RSPH4A EXON Missense_S422G,Missense_S422G exm573812 6 116949156 [A/G] NM_001010892,NM_001161664 RSPH4A,RSPH4A EXON Missense_Y429C,Missense_Y429C exm573814 6 116949204 [T/C] NM_001010892,NM_001161664 RSPH4A,RSPH4A EXON Missense_P445L,Missense_P445L exm573819 6 116949359 [A/G] NM_001010892,NM_001161664 RSPH4A,RSPH4A EXON Missense_V497I,Missense_V497I exm573825 6 116950734 [A/G] NM_001010892,NM_001161664 RSPH4A,RSPH4A EXON Missense_R556H,Silent exm573827 6 116950775 [C/G] NM_001010892,NM_001161664 RSPH4A,RSPH4A EXON Missense_E570Q,Silent exm573832 6 116950833 [T/C] NM_001010892,NM_001161664 RSPH4A,RSPH4A EXON Missense_L589P,Silent exm573835 6 116951627 [T/C] NM_001010892,NM_001161664 RSPH4A,RSPH4A EXON Missense_R610W,Synonymous_H564H exm573837 6 116951678 [A/C] NM_001010892,NM_001161664 RSPH4A,RSPH4A EXON Missense_N627H,Synonymous_P581P exm573846 6 116953443 [T/C] NM_001010892,NM_001161664 RSPH4A,RSPH4A EXON Missense_P664S,Silent exm573848 6 116953552 [T/C] NM_001010892,NM_001161664 RSPH4A,RSPH4A EXON Missense_A700V,Silent exm573849 6 116953554 [G/C] NM_001010892,NM_001161664 RSPH4A,RSPH4A EXON Missense_E701Q,Silent exm573863 6 116967057 [T/G] NM_145062 ZUFSP EXON Missense_N503K exm573867 6 116968684 [T/C] NM_145062 ZUFSP EXON Missense_E469G exm573877 6 116972865 [T/C] NM_145062 ZUFSP EXON Missense_M396V exm573879 6 116973182 [T/C] NM_145062 ZUFSP EXON Missense_N379D exm573888 6 116977847 [T/C] NM_145062 ZUFSP EXON Missense_G321R exm573890 6 116977861 [T/C] NM_145062 ZUFSP EXON Missense_K316R exm2109341 6 116977928 [T/G] NM_145062 ZUFSP EXON Missense_P294T exm573897 6 116980076 [G/C] NM_145062 ZUFSP EXON Missense_V228L exm573898 6 116981908 [A/G] NM_145062 ZUFSP EXON Missense_F221L exm573902 6 116987961 [T/C] NM_145062 ZUFSP EXON Missense_S132N exm573905 6 116988121 [T/G] NM_145062 ZUFSP EXON Missense_N79H exm573924 6 117010525 [A/G] NM_002269 KPNA5 EXON Missense_S16N exm573936 6 117013314 [C/G] NM_002269 KPNA5 EXON Missense_P79A exm573939 6 117013474 [A/G] NM_002269 KPNA5 EXON Missense_D87N exm573945 6 117023239 [T/G] NM_002269 KPNA5 EXON Missense_V165L exm573946 6 117026292 [A/T] NM_002269 KPNA5 EXON Missense_L209M exm573958 6 117043406 [A/G] NM_002269 KPNA5 EXON Missense_A292T exm573961 6 117043431 [A/G] NM_002269 KPNA5 EXON Missense_R300Q exm2109367 6 117050829 [T/C] NM_002269 KPNA5 EXON Missense_R453C exm573974 6 117050890 [T/C] NM_002269 KPNA5 EXON Missense_I473T exm573986 6 117083172 [T/C] NM_001085480 FAM162B EXON Missense_A120T exm573988 6 117083186 [C/G] NM_001085480 FAM162B EXON Missense_G115A exm573993 6 117086309 [A/C] NM_001085480 FAM162B Silent exm573994 6 117086340 [T/C] NM_001085480 FAM162B EXON Missense_K84R exm573995 6 117086378 [A/C] NM_001085480 FAM162B EXON Missense_Q71H exm574007 6 117113315 [A/G] NM_148963 GPRC6A EXON Missense_S924L exm574013 6 117113382 [G/C] NM_148963 GPRC6A EXON Missense_A902P exm574016 6 117113430 [T/C] NM_148963 GPRC6A EXON Missense_S886G exm574017 6 117113432 [T/G] NM_148963 GPRC6A EXON Missense_S885Y exm574022 6 117113533 [C/G] NM_148963 GPRC6A EXON Missense_K851N exm574024 6 117113558 [A/G] NM_148963 GPRC6A EXON Missense_I843T exm574032 6 117113724 [T/G] NM_148963 GPRC6A EXON Missense_M788L exm574052 6 117113771 [T/G] NM_148963 GPRC6A EXON Missense_K772T exm574053 6 117113772 [T/C] NM_148963 GPRC6A EXON Missense_K772E exm574054 6 117113773 [G/C] NM_148963 GPRC6A EXON Missense_F771L exm574055 6 117113774 [T/A] NM_148963 GPRC6A EXON Missense_F771Y exm574060 6 117113782 [T/C] NM_148963 GPRC6A EXON Missense_I768M exm574081 6 117113976 [A/G] NM_148963 GPRC6A EXON Missense_P704S exm-rs6901250 6 117114025 [A/G] NM_148963 GPRC6A EXON Synonymous_A687A exm574088 6 117114050 [A/G] NM_148963 GPRC6A EXON Missense_T679M exm574089 6 117114123 [A/G] NM_148963 GPRC6A EXON Nonsense_Q655X exm2109397 6 117114212 [A/T] NM_148963 GPRC6A EXON Missense_K625I exm574095 6 117114288 [A/G] NM_148963 GPRC6A EXON Missense_L600F exm574096 6 117114290 [A/G] NM_148963 GPRC6A EXON Missense_I599T exm574106 6 117116965 [A/G] NM_148963 GPRC6A EXON Missense_P528S exm574108 6 117121767 [T/G] NM_148963 GPRC6A EXON Missense_N510H exm574120 6 117127724 [T/C] NM_148963 GPRC6A EXON Missense_R382G exm2109407 6 117127757 [T/C] NM_148963 GPRC6A EXON Missense_D371N exm574121 6 117127775 [T/C] NM_148963 GPRC6A EXON Missense_A365T exm574130 6 117128023 [T/C] NM_148963 GPRC6A EXON Missense_H282R exm574134 6 117128107 [A/G] NM_148963 GPRC6A EXON Missense_I254T exm574135 6 117128159 [T/C] NM_148963 GPRC6A EXON Missense_V237M exm574137 6 117128185 [A/C] NM_148963 GPRC6A EXON Missense_F228C exm574138 6 117128198 [A/C] NM_148963 GPRC6A EXON Missense_A224S exm574139 6 117128308 [T/C] NM_148963 GPRC6A EXON Missense_R187Q exm2109411 6 117128309 [A/G] NM_148963 GPRC6A EXON Missense_R187W exm574145 6 117130544 [A/C] NM_148963 GPRC6A EXON Missense_I144R exm574153 6 117130704 [A/G] NM_148963 GPRC6A EXON Missense_P91S exm574157 6 117150008 [A/G] NM_148963 GPRC6A EXON Nonsense_R57X exm574162 6 117150079 [A/G] NM_148963 GPRC6A EXON Missense_P33L exm574164 6 117150125 [A/G] NM_148963 GPRC6A EXON Missense_S18P exm2270390 6 117157774 [T/C] exm574168 6 117198488 [A/C] NM_173560 RFX6 EXON Missense_A17E exm574169 6 117198500 [A/C] NM_173560 RFX6 EXON Missense_S21Y exm574174 6 117198581 [T/C] NM_173560 RFX6 EXON Missense_A48V exm-rs339331 6 117210052 [T/C] NM_173560 RFX6 Silent exm574192 6 117232111 [A/G] NM_173560 RFX6 EXON Missense_R229H exm574202 6 117239212 [A/G] NM_173560 RFX6 EXON Missense_V329I exm574214 6 117241617 [T/C] NM_173560 RFX6 EXON Missense_H443Y exm2243060 6 117246646 [T/C] NM_173560 RFX6 EXON Missense_P570L exm574228 6 117246670 [G/C] NM_173560 RFX6 EXON Missense_R578P exm574233 6 117246766 [T/C] NM_173560 RFX6 EXON Missense_L610P exm574239 6 117248343 [A/C] NM_173560 RFX6 EXON Missense_T680K exm574247 6 117248480 [C/G] NM_173560 RFX6 EXON Missense_R726G exm574254 6 117248673 [A/G] NM_173560 RFX6 EXON Missense_G790E exm574257 6 117249922 [G/C] NM_173560 RFX6 EXON Missense_G800A exm574258 6 117249961 [C/G] NM_173560 RFX6 EXON Missense_R813T exm574261 6 117249983 [C/G] NM_173560 RFX6 EXON Missense_Q820H exm574263 6 117250009 [G/C] NM_173560 RFX6 EXON Missense_R829P exm574266 6 117250076 [T/G] NM_173560 RFX6 EXON Missense_Q851H exm574267 6 117250084 [T/C] NM_173560 RFX6 EXON Missense_S854L exm2270391 6 117510203 [T/G] exm-rs961764 6 117522156 [C/G] exm574293 6 117589463 [A/G] NM_153453,NM_182645 VGLL2,VGLL2 EXON Missense_E67G,Missense_E67G exm2109475 6 117589606 [C/G] NM_153453,NM_182645 VGLL2,VGLL2 EXON Missense_P115A,Missense_P115A exm574298 6 117589645 [G/C] NM_153453,NM_182645 VGLL2,VGLL2 EXON Missense_P128A,Missense_P128A exm2257476 6 117591755 [T/C] NM_153453,NM_182645 VGLL2,VGLL2 EXON Silent,Synonymous_N147N exm574330 6 117609683 [T/G] NM_002944 ROS1 EXON Missense_H2339P exm574332 6 117609714 [G/C] NM_002944 ROS1 EXON Missense_P2329A exm574333 6 117609716 [T/C] NM_002944 ROS1 EXON Missense_K2328R exm574338 6 117609854 [T/C] NM_002944 ROS1 EXON Missense_G2282D exm574340 6 117609894 [A/G] NM_002944 ROS1 EXON Nonsense_R2269X exm574342 6 117609904 [T/G] NM_002944 ROS1 EXON Missense_E2265D exm574347 6 117622137 [T/C] NM_002944 ROS1 EXON Missense_G2245S exm574348 6 117622150 [A/C] NM_002944 ROS1 EXON Missense_N2240K exm574350 6 117622184 [G/C] NM_002944 ROS1 EXON Missense_S2229C exm574356 6 117622231 [T/G] NM_002944 ROS1 EXON Missense_D2213E exm574357 6 117622233 [T/C] NM_002944 ROS1 EXON Missense_D2213N exm574358 6 117622241 [C/G] NM_002944 ROS1 EXON Missense_R2210T exm574359 6 117622251 [T/C] NM_002944 ROS1 EXON Missense_T2207A exm574360 6 117622256 [A/C] NM_002944 ROS1 EXON Missense_R2205I exm574366 6 117622286 [G/C] NM_002944 ROS1 EXON Missense_T2195S exm574371 6 117631301 [T/C] NM_002944 ROS1 EXON Missense_R2126Q exm574383 6 117631444 [A/C] NM_002944 ROS1 EXON Missense_R2078S exm574387 6 117632256 [T/C] NM_002944 ROS1 EXON Missense_V2054I exm574391 6 117638325 [T/C] NM_002944 ROS1 EXON Missense_R2039H exm574398 6 117639389 [A/C] NM_002944 ROS1 EXON Missense_Q1989H exm574414 6 117642495 [T/C] NM_002944 ROS1 EXON Missense_E1902K exm574415 6 117642531 [T/C] NM_002944 ROS1 EXON Missense_K1890E exm2109514 6 117645574 [A/C] NM_002944 ROS1 EXON Missense_D1854E exm2275905 6 117650514 [T/C] NM_002944 ROS1 EXON Missense_T1782A exm574426 6 117650532 [C/G] NM_002944 ROS1 EXON Missense_D1776H exm574429 6 117658368 [T/G] NM_002944 ROS1 EXON Missense_S1739R exm574437 6 117662302 [T/C] NM_002944 ROS1 EXON Missense_Q1692R exm2109533 6 117662402 [T/G] NM_002944 ROS1 EXON Missense_P1659T exm574445 6 117662588 [A/G] NM_002944 ROS1 EXON Missense_S1626F exm574446 6 117662607 [A/G] NM_002944 ROS1 EXON Missense_L1620F exm574451 6 117662757 [A/G] NM_002944 ROS1 EXON Missense_S1570P exm574452 6 117662759 [T/C] NM_002944 ROS1 EXON Missense_R1569Q exm2275906 6 117662760 [A/G] NM_002944 ROS1 EXON Missense_R1569W exm574455 6 117663563 [T/C] NM_002944 ROS1 EXON Missense_V1557I exm574458 6 117663667 [T/G] NM_002944 ROS1 EXON Missense_P1522Q exm574469 6 117665425 [T/C] NM_002944 ROS1 EXON Missense_D1441G exm574470 6 117674158 [A/G] NM_002944 ROS1 EXON Missense_F1439S exm574481 6 117677875 [T/G] NM_002944 ROS1 EXON Missense_Y1353S exm2243066 6 117679105 [T/A] NM_002944 ROS1 EXON Missense_Y1239F exm574516 6 117683821 [A/G] NM_002944 ROS1 EXON Missense_S1109L exm574519 6 117683844 [T/C] NM_002944 ROS1 EXON Nonsense_W1101X exm574520 6 117683863 [T/A] NM_002944 ROS1 EXON Missense_N1095I exm574526 6 117686261 [T/C] NM_002944 ROS1 EXON Missense_G1027D exm574528 6 117686309 [T/C] NM_002944 ROS1 EXON Missense_Y1011C exm574529 6 117686313 [T/G] NM_002944 ROS1 EXON Missense_P1010T exm574533 6 117686781 [A/G] NM_002944 ROS1 EXON Missense_V979A exm574538 6 117686881 [A/C] NM_002944 ROS1 EXON Missense_V946F exm574541 6 117686893 [A/G] NM_002944 ROS1 EXON Missense_F942L exm574553 6 117687391 [A/G] NM_002944 ROS1 EXON Missense_A887V exm574557 6 117700231 [T/C] NM_002944 ROS1 EXON Missense_R863Q exm574562 6 117700282 [T/C] NM_002944 ROS1 EXON Missense_Y846C exm574563 6 117700302 [T/G] NM_002944 ROS1 EXON Missense_D839E exm574565 6 117704565 [T/G] NM_002944 ROS1 EXON Missense_T804N exm574572 6 117704636 [C/G] NM_002944 ROS1 EXON Missense_D780E exm574573 6 117704649 [A/G] NM_002944 ROS1 EXON Missense_T776M exm574585 6 117707022 [T/C] NM_002944 ROS1 EXON Missense_M710V exm574588 6 117708085 [T/C] NM_002944 ROS1 EXON Missense_E698K exm574599 6 117709104 [T/C] NM_002944 ROS1 EXON Missense_D618G exm2109584 6 117709113 [T/G] NM_002944 ROS1 EXON Missense_S615Y exm574604 6 117709197 [T/G] NM_002944 ROS1 EXON Missense_N587T exm574607 6 117710578 [A/G] NM_002944 ROS1 EXON Missense_S565L exm574608 6 117710593 [T/C] NM_002944 ROS1 EXON Missense_R560H exm574612 6 117710661 [T/C] NM_002944 ROS1 EXON Missense_I537M exm574620 6 117710875 [T/C] NM_002944 ROS1 EXON Missense_R466Q exm574622 6 117710891 [T/C] NM_002944 ROS1 EXON Missense_K461E exm574635 6 117715345 [A/G] NM_002944 ROS1 EXON Missense_Y382H exm574636 6 117715381 [A/G] NM_002944 ROS1 EXON Missense_S370P exm574637 6 117715395 [C/G] NM_002944 ROS1 EXON Missense_G365A exm574642 6 117715791 [T/G] NM_002944 ROS1 EXON Missense_H323N exm574643 6 117715800 [T/C] NM_002944 ROS1 EXON Missense_A320T exm574655 6 117718187 [A/G] NM_002944 ROS1 EXON Missense_P224S exm574659 6 117718208 [T/G] NM_002944 ROS1 EXON Missense_P217T exm574666 6 117724379 [T/C] NM_002944 ROS1 EXON Missense_R167Q exm2264210 6 117724462 [A/C] NM_002944 ROS1 Silent exm574669 6 117725448 [T/G] NM_002944 ROS1 EXON Missense_T145P exm574696 6 117746782 [T/C] NM_002944 ROS1 EXON Missense_N13S exm574707 6 117825028 [A/G] NM_173674 DCBLD1 EXON Missense_T71A exm574716 6 117841110 [T/C] NM_173674 DCBLD1 EXON Missense_P153S exm2257477 6 117842698 [A/G] NM_173674 DCBLD1 EXON Synonymous_T157T exm574739 6 117859815 [A/G] NM_173674 DCBLD1 EXON Missense_G265R exm574743 6 117859927 [A/G] NM_173674 DCBLD1 EXON Missense_G302D exm574754 6 117860508 [A/G] NM_173674 DCBLD1 EXON Missense_K356R exm574764 6 117861891 [A/G] NM_173674 DCBLD1 EXON Missense_V388M exm574779 6 117866704 [A/C] NM_173674 DCBLD1 EXON Missense_Y520S exm574780 6 117866721 [T/A] NM_173674 DCBLD1 EXON Missense_M526L exm574789 6 117884448 [A/G] NM_173674,NM_001017408,NM_020399 DCBLD1,GOPC,GOPC EXON Silent,Missense_L445P,Missense_L453P exm2243072 6 117890791 [T/C] NM_173674,NM_001017408,NM_020399 DCBLD1,GOPC,GOPC EXON Silent,Missense_G333R,Missense_G341R exm574804 6 117892023 [T/G] NM_001017408,NM_020399 GOPC,GOPC EXON Synonymous_T296T,Synonymous_T304T exm574808 6 117892102 [T/C] NM_001017408,NM_020399 GOPC,GOPC EXON Missense_K270R,Missense_K278R exm574824 6 117923294 [T/C] NM_001017408,NM_020399 GOPC,GOPC EXON Missense_G53E,Missense_G53E exm2270392 6 118387296 [T/C] NM_001029858 SLC35F1 Silent exm574857 6 118475619 [T/C] NM_001029858 SLC35F1 EXON Missense_I62T exm2266336 6 118496796 [A/G] NM_001029858 SLC35F1 Silent exm-rs281868 6 118574061 [A/G] NM_001029858 SLC35F1 Silent exm-rs89107 6 118578043 [A/G] NM_001029858 SLC35F1 Silent exm574869 6 118606403 [A/G] NM_001029858 SLC35F1 EXON Missense_V302I exm574876 6 118635230 [T/A] NM_001029858 SLC35F1 EXON Missense_I348F exm574882 6 118635300 [A/G] NM_001029858 SLC35F1 EXON Missense_R371H exm574883 6 118635315 [A/C] NM_001029858 SLC35F1 EXON Missense_P376H exm574884 6 118635323 [T/G] NM_001029858 SLC35F1 EXON Missense_D379Y exm574888 6 118635405 [A/G] NM_001029858 SLC35F1 EXON Missense_R406H exm-rs12210810 6 118653204 [C/G] exm-rs11153730 6 118667522 [T/C] exm-rs11970286 6 118680374 [T/C] exm574893 6 118786639 [T/C] NM_001042475,NM_001178035 CEP85L,CEP85L EXON Missense_I783V,Missense_I786V exm574895 6 118790266 [A/C] NM_001042475,NM_001178035 CEP85L,CEP85L EXON Missense_E741D,Missense_E744D exm574904 6 118791750 [C/G] NM_001042475,NM_001178035 CEP85L,CEP85L EXON Missense_L658V,Missense_L661V exm574916 6 118803021 [T/G] NM_001042475,NM_001178035 CEP85L,CEP85L EXON Missense_K556Q,Missense_K559Q exm574921 6 118803091 [C/G] NM_001042475,NM_001178035 CEP85L,CEP85L EXON Missense_Q532H,Missense_Q535H exm574935 6 118812980 [T/C] NM_001042475,NM_001178035,NM_206921 CEP85L,CEP85L,CEP85L EXON Missense_V436I,Missense_V439I,Missense_V436I exm574942 6 118832526 [A/G] NM_001042475,NM_001178035,NM_206921 CEP85L,CEP85L,CEP85L EXON Missense_R398W,Missense_R401W,Missense_R398W exm574945 6 118845043 [T/C] NM_001042475,NM_001178035,NM_206921 CEP85L,CEP85L,CEP85L EXON Missense_Y354C,Missense_Y357C,Missense_Y354C exm574963 6 118886886 [T/C] NM_001042475,NM_001178035,NM_206921 CEP85L,CEP85L,CEP85L EXON Missense_K276E,Missense_K279E,Missense_K276E exm574966 6 118886955 [T/C] NM_001042475,NM_001178035,NM_206921 CEP85L,CEP85L,CEP85L EXON Missense_D253N,Missense_D256N,Missense_D253N exm2243079 6 118886958 [T/C] NM_001042475,NM_001178035,NM_206921 CEP85L,CEP85L,CEP85L EXON Missense_V252I,Missense_V255I,Missense_V252I exm574967 6 118886961 [T/G] NM_001042475,NM_001178035,NM_206921 CEP85L,CEP85L,CEP85L EXON Missense_P251T,Missense_P254T,Missense_P251T exm574971 6 118887053 [T/G] NM_001042475,NM_001178035,NM_206921 CEP85L,CEP85L,CEP85L EXON Missense_K220T,Missense_K223T,Missense_K220T exm574974 6 118887215 [A/T] NM_001042475,NM_001178035,NM_206921 CEP85L,CEP85L,CEP85L EXON Missense_D166V,Missense_D169V,Missense_D166V exm2274180 6 118887298 [G/C] NM_001042475,NM_001178035,NM_206921 CEP85L,CEP85L,CEP85L EXON Missense_R138S,Missense_R141S,Missense_R138S exm574982 6 118887303 [T/C] NM_001042475,NM_001178035,NM_206921 CEP85L,CEP85L,CEP85L EXON Missense_S137G,Missense_S140G,Missense_S137G exm574985 6 118887333 [T/C] NM_001042475,NM_001178035,NM_206921 CEP85L,CEP85L,CEP85L EXON Missense_T127A,Missense_T130A,Missense_T127A exm574987 6 118887356 [A/G] NM_001042475,NM_001178035,NM_206921 CEP85L,CEP85L,CEP85L EXON Missense_T119I,Missense_T122I,Missense_T119I exm574990 6 118887387 [T/C] NM_001042475,NM_001178035,NM_206921 CEP85L,CEP85L,CEP85L EXON Missense_A109T,Missense_A112T,Missense_A109T exm574991 6 118887401 [A/G] NM_001042475,NM_001178035,NM_206921 CEP85L,CEP85L,CEP85L EXON Missense_P104L,Missense_P107L,Missense_P104L exm2270393 6 119108363 [T/C] exm575001 6 119136133 [T/C] NM_017696 MCM9 EXON Missense_M1096V exm575002 6 119136196 [A/G] NM_017696 MCM9 EXON Missense_P1075S exm575011 6 119136726 [A/G] NM_017696 MCM9 EXON Missense_S898F exm575012 6 119136759 [A/C] NM_017696 MCM9 EXON Missense_M887R exm575017 6 119137011 [A/G] NM_017696 MCM9 EXON Missense_P803L exm575019 6 119137147 [T/C] NM_017696 MCM9 EXON Missense_T758A exm575021 6 119137423 [A/G] NM_017696 MCM9 EXON Missense_R666W exm575022 6 119137445 [A/C] NM_017696 MCM9 EXON Missense_Q658H exm575024 6 119147356 [C/G] NM_017696 MCM9 EXON Missense_L639V exm575029 6 119149146 [T/C] NM_017696 MCM9 EXON Missense_R559Q exm575040 6 119232799 [T/C] NM_017696,NM_153255 MCM9,MCM9 EXON Silent,Missense_N389S exm575043 6 119232914 [A/C] NM_017696,NM_153255 MCM9,MCM9 EXON Missense_V351F,Missense_V351F exm575048 6 119234468 [T/C] NM_017696,NM_153255 MCM9,MCM9 EXON Missense_R341Q,Missense_R341Q exm575051 6 119234579 [T/C] NM_017696,NM_153255 MCM9,MCM9 EXON Missense_N304S,Missense_N304S exm575053 6 119238738 [T/C] NM_017696,NM_153255 MCM9,MCM9 EXON Missense_D298N,Missense_D298N exm2109758 6 119243179 [A/C] NM_017696,NM_153255 MCM9,MCM9 EXON Missense_C232G,Missense_C232G exm575065 6 119243187 [A/C] NM_017696,NM_153255 MCM9,MCM9 EXON Missense_V229G,Missense_V229G exm575068 6 119243238 [G/C] NM_017696,NM_153255 MCM9,MCM9 EXON Missense_S212C,Missense_S212C exm2109760 6 119245025 [A/G] NM_017696,NM_153255 MCM9,MCM9 EXON Missense_S191L,Missense_S191L exm575071 6 119245053 [T/C] NM_017696,NM_153255 MCM9,MCM9 EXON Missense_K182E,Missense_K182E exm575074 6 119245094 [T/C] NM_017696,NM_153255 MCM9,MCM9 EXON Missense_R168Q,Missense_R168Q exm575081 6 119245200 [T/C] NM_017696,NM_153255 MCM9,MCM9 EXON Missense_T133A,Missense_T133A exm575095 6 119252836 [A/G] NM_017696,NM_153255 MCM9,MCM9 EXON Missense_S18L,Missense_S18L exm575096 6 119252874 [T/G] NM_017696,NM_153255 MCM9,MCM9 EXON Missense_Q5H,Missense_Q5H exm2109767 6 119252905 [T/G] NM_153255 MCM9 Silent exm575118 6 119288065 [T/C] NM_024581,NM_001100411 FAM184A,FAM184A EXON Missense_I990V,Missense_I821V exm575119 6 119295651 [A/C] NM_024581,NM_001100411 FAM184A,FAM184A EXON Missense_A953S,Silent exm575127 6 119297143 [A/T] NM_024581,NM_001100411 FAM184A,FAM184A EXON Missense_H841L,Missense_H721L exm575148 6 119327632 [T/C] NM_024581,NM_001100411 FAM184A,FAM184A EXON Missense_D599N,Missense_D479N exm575163 6 119337914 [T/C] NM_024581,NM_001100411 FAM184A,FAM184A EXON Missense_M510V,Missense_M390V exm575165 6 119337942 [T/A] NM_024581,NM_001100411 FAM184A,FAM184A EXON Missense_N500K,Missense_N380K exm575203 6 119345551 [T/C] NM_024581,NM_001100411 FAM184A,FAM184A EXON Missense_R196Q,Missense_R76Q exm575207 6 119345698 [T/C] NM_024581,NM_001100411 FAM184A,FAM184A EXON Missense_H147R,Missense_H27R exm575222 6 119399333 [T/C] NM_024581,NM_001100411 FAM184A,FAM184A EXON Missense_M44I,Silent exm575223 6 119399335 [T/C] NM_024581,NM_001100411 FAM184A,FAM184A EXON Missense_M44V,Silent exm575224 6 119399349 [T/C] NM_024581,NM_001100411 FAM184A,FAM184A EXON Missense_E39G,Silent exm575228 6 119399385 [T/G] NM_024581,NM_001100411 FAM184A,FAM184A EXON Missense_A27E,Silent exm2266337 6 119460786 [A/G] NM_001100411 FAM184A Silent exm2266246 6 119485199 [A/G] exm575241 6 119500995 [T/C] NM_005907 MAN1A1 EXON Missense_R651G exm575242 6 119501004 [C/G] NM_005907 MAN1A1 EXON Missense_V648L exm575250 6 119501110 [T/C] NM_005907 MAN1A1 EXON Synonymous_K612K exm575267 6 119510904 [T/C] NM_005907 MAN1A1 EXON Missense_E491K exm575270 6 119510943 [T/C] NM_005907 MAN1A1 EXON Missense_A478T exm575297 6 119669641 [C/G] NM_005907 MAN1A1 EXON Missense_A197G exm575298 6 119669683 [T/C] NM_005907 MAN1A1 EXON Missense_E183G exm575302 6 119669741 [T/C] NM_005907 MAN1A1 EXON Missense_D164N exm2266247 6 119990080 [A/G] exm2270394 6 120583762 [T/C] exm2270395 6 120989799 [T/C] exm-rs2817937 6 121098457 [T/C] exm-rs2789066 6 121100137 [A/G] exm-rs1343075 6 121339179 [A/G] exm2270515 6 121398535 [T/C] exm575319 6 121401942 [T/C] NM_152730 C6orf170 EXON Missense_R1250Q exm575320 6 121401996 [T/G] NM_152730 C6orf170 EXON Missense_E1232A exm575321 6 121402024 [A/G] NM_152730 C6orf170 EXON Missense_H1223Y exm575324 6 121412114 [A/G] NM_152730 C6orf170 EXON Missense_T1180I exm575327 6 121427210 [A/C] NM_152730 C6orf170 EXON Missense_V1142L exm575337 6 121433696 [A/C] NM_152730 C6orf170 EXON Missense_R1093S exm2109902 6 121433793 [C/G] NM_152730 C6orf170 EXON Missense_G1061A exm575360 6 121452897 [A/G] NM_152730 C6orf170 EXON Synonymous_D925D exm575369 6 121482110 [A/G] NM_152730 C6orf170 EXON Missense_P888L exm575380 6 121526264 [A/G] NM_152730 C6orf170 EXON Missense_R843C exm575385 6 121544432 [T/G] NM_152730 C6orf170 EXON Missense_L811I exm575386 6 121544434 [A/T] NM_152730 C6orf170 EXON Missense_D810V exm575390 6 121560272 [T/C] NM_152730 C6orf170 EXON Missense_R770G exm575392 6 121560311 [C/G] NM_152730 C6orf170 EXON Missense_E757Q exm575395 6 121562641 [T/C] NM_152730 C6orf170 EXON Missense_A739T exm575396 6 121562649 [A/G] NM_152730 C6orf170 EXON Missense_A736V exm575397 6 121562656 [A/G] NM_152730 C6orf170 EXON Nonsense_R734X exm575399 6 121562676 [T/C] NM_152730 C6orf170 EXON Missense_G727D exm575400 6 121562681 [T/G] NM_152730 C6orf170 EXON Missense_K725N exm575407 6 121563477 [A/C] NM_152730 C6orf170 EXON Missense_W676L exm575408 6 121576518 [G/C] NM_152730 C6orf170 EXON Missense_E658D exm575411 6 121577270 [A/G] NM_152730 C6orf170 EXON Missense_T632I exm575412 6 121577370 [T/C] NM_152730 C6orf170 EXON Missense_I599V exm575419 6 121600391 [A/C] NM_152730 C6orf170 EXON Missense_A537S exm575420 6 121602781 [A/T] NM_152730 C6orf170 EXON Missense_D506V exm575421 6 121602785 [T/A] NM_152730 C6orf170 EXON Missense_S505C exm575436 6 121613283 [T/G] NM_152730 C6orf170 EXON Missense_I430L exm575440 6 121615757 [A/G] NM_152730 C6orf170 EXON Missense_T397I exm575441 6 121615777 [C/G] NM_152730 C6orf170 EXON Missense_Q390H exm575445 6 121620608 [T/G] NM_152730 C6orf170 EXON Missense_T375K exm575451 6 121624774 [T/G] NM_152730 C6orf170 EXON Missense_K357Q exm575463 6 121625569 [A/G] NM_152730 C6orf170 EXON Missense_R293C exm575464 6 121625681 [T/C] NM_152730 C6orf170 EXON Missense_R287H exm575465 6 121625703 [T/C] NM_152730 C6orf170 EXON Missense_I280V exm575468 6 121625928 [T/C] NM_152730 C6orf170 EXON Missense_M248V exm575470 6 121625945 [A/G] NM_152730 C6orf170 EXON Missense_L242S exm575475 6 121625975 [T/C] NM_152730 C6orf170 EXON Missense_R232Q exm575480 6 121629168 [T/C] NM_152730 C6orf170 EXON Missense_C215Y exm575482 6 121629208 [G/C] NM_152730 C6orf170 EXON Missense_P202A exm575491 6 121638666 [A/G] NM_152730 C6orf170 EXON Missense_S157F exm575493 6 121638682 [A/G] NM_152730 C6orf170 EXON Missense_R152C exm575496 6 121638732 [T/C] NM_152730 C6orf170 EXON Missense_R135Q exm575503 6 121642851 [T/C] NM_152730 C6orf170 EXON Missense_R82Q exm-rs17083435 6 121662909 [T/C] exm-rs11154022 6 121748542 [A/G] exm2257488 6 121768449 [A/G] NM_000165 GJA1 EXON Synonymous_L152L exm575544 6 121768717 [A/G] NM_000165 GJA1 EXON Missense_G242R exm575550 6 121768777 [T/C] NM_000165 GJA1 EXON Missense_S262P exm2257489 6 121769121 [A/G] NM_000165 GJA1 EXON Synonymous_R376R exm2266248 6 121895061 [A/G] exm-rs9398652 6 122146034 [A/C] exm-rs12110693 6 122158270 [A/G] exm2270396 6 122293478 [T/C] exm2266338 6 122313558 [A/G] exm575591 6 122741351 [T/A] NM_001135564,NM_004506,NM_001243094 HSF2,HSF2,HSF2 EXON Missense_D222V,Missense_D222V,Missense_D222V exm575598 6 122743891 [A/G] NM_001135564,NM_004506 HSF2,HSF2 EXON Missense_V287I,Missense_V287I exm575614 6 122753136 [T/C] NM_001135564,NM_004506 HSF2,HSF2 EXON Missense_S443F,Missense_S461F exm575616 6 122753216 [T/G] NM_001135564,NM_004506 HSF2,HSF2 EXON Missense_D470Y,Missense_D488Y exm2273426 6 122766138 [A/G] NM_020755 SERINC1 EXON Silent exm575627 6 122766268 [C/G] NM_020755 SERINC1 EXON Missense_S428C exm575629 6 122767928 [T/C] NM_020755 SERINC1 EXON Missense_N406S exm575630 6 122768003 [T/C] NM_020755 SERINC1 EXON Missense_G381D exm575633 6 122768149 [A/G] NM_020755 SERINC1 EXON Synonymous_S332S exm575636 6 122768315 [T/G] NM_020755 SERINC1 EXON Missense_Q316K exm2275907 6 122773101 [A/C] NM_020755 SERINC1 EXON Missense_A231S exm575649 6 122773119 [T/C] NM_020755 SERINC1 EXON Missense_S225G exm575652 6 122773136 [T/G] NM_020755 SERINC1 EXON Missense_Y219S exm575659 6 122774962 [A/G] NM_020755 SERINC1 EXON Missense_S181L exm575676 6 122779712 [T/C] NM_020755 SERINC1 EXON Missense_V52I exm2243102 6 122792873 [A/C] NM_020755 SERINC1 EXON Missense_V4F exm2266249 6 122945140 [A/G] NM_001270394,NM_001270393,NM_181794,NM_032471,NM_181795 PKIB,PKIB,PKIB,PKIB,PKIB Silent,Silent,Silent,Silent,Silent exm575695 6 123039060 [A/G] NM_001270394,NM_001270393,NM_181794,NM_032471,NM_181795,NM_001270395 PKIB,PKIB,PKIB,PKIB,PKIB,PKIB EXON Missense_G48R,Missense_G41R,Missense_G41R,Missense_G41R,Missense_G41R,Missense_G48R exm575696 6 123039070 [A/G] NM_001270394,NM_001270393,NM_181794,NM_032471,NM_181795,NM_001270395 PKIB,PKIB,PKIB,PKIB,PKIB,PKIB EXON Missense_D51G,Missense_D44G,Missense_D44G,Missense_D44G,Missense_D44G,Missense_D51G exm2257494 6 123072973 [A/G] exm575714 6 123101481 [T/C] NM_001446 FABP7 EXON Missense_T40M exm575718 6 123101544 [T/C] NM_001446 FABP7 EXON Missense_T61M exm575723 6 123102302 [A/G] NM_001446 FABP7 EXON Missense_N104S exm575735 6 123110537 [T/C] NM_006714 SMPDL3A EXON Missense_H16Y exm575742 6 123116925 [A/C] NM_006714 SMPDL3A EXON Missense_N72K exm575744 6 123116957 [T/C] NM_006714 SMPDL3A EXON Missense_S83F exm575754 6 123122464 [T/C] NM_006714 SMPDL3A EXON Missense_P161S exm575756 6 123122483 [T/G] NM_006714 SMPDL3A EXON Missense_V167G exm2110085 6 123122552 [A/G] NM_006714 SMPDL3A Silent exm575758 6 123124823 [T/C] NM_006714 SMPDL3A EXON Nonsense_Q195X exm575763 6 123124884 [T/G] NM_006714 SMPDL3A EXON Missense_G215V exm575770 6 123126106 [T/G] NM_006714 SMPDL3A EXON Missense_I264S exm2257495 6 123126138 [T/C] NM_006714 SMPDL3A EXON Synonymous_L275L exm575772 6 123126163 [A/G] NM_006714 SMPDL3A EXON Missense_S283N exm2243108 6 123126189 [A/G] NM_006714 SMPDL3A EXON Missense_G292R exm575778 6 123127486 [A/G] NM_006714 SMPDL3A EXON Missense_R343H exm575793 6 123130525 [A/G] NM_006714 SMPDL3A EXON Missense_K445R exm575813 6 123332273 [A/G] NM_001010852 CLVS2 EXON Missense_S178N exm575823 6 123377004 [G/C] NM_001010852 CLVS2 EXON Missense_E243D exm575827 6 123377107 [A/G] NM_001010852 CLVS2 EXON Missense_V278I exm-rs12198275 6 123395743 [A/G] exm2270516 6 123416837 [T/C] exm575837 6 123539757 [A/G] NM_006073 TRDN EXON Nonsense_Q727X exm575839 6 123539852 [A/T] NM_006073 TRDN EXON Missense_D695V exm575856 6 123588881 [T/C] NM_006073 TRDN EXON Missense_R585Q exm575860 6 123592291 [T/G] NM_006073 TRDN EXON Missense_E571D exm575882 6 123600207 [T/G] NM_006073 TRDN EXON Missense_P511T exm575886 6 123637602 [T/C] NM_006073 TRDN EXON Missense_G504S exm575891 6 123658776 [T/G] NM_006073 TRDN EXON Missense_L470M exm575893 6 123673686 [T/C] NM_006073,NM_001251987 TRDN,TRDN EXON Missense_Q456R,Missense_Q457R exm575896 6 123687288 [A/C] NM_006073,NM_001251987 TRDN,TRDN EXON Missense_I438S,Missense_I439S exm575898 6 123687319 [A/G] NM_006073,NM_001251987 TRDN,TRDN EXON Nonsense_R428X,Nonsense_R429X exm575900 6 123696766 [T/G] NM_006073,NM_001251987 TRDN,TRDN EXON Missense_D419E,Missense_D420E exm575903 6 123699019 [A/C] NM_006073,NM_001251987 TRDN,TRDN EXON Missense_V404G,Missense_V405G exm575905 6 123699042 [T/C] NM_006073,NM_001251987 TRDN,TRDN EXON Synonymous_K396K,Synonymous_K397K exm575908 6 123703291 [A/C] NM_006073,NM_001251987 TRDN,TRDN EXON Missense_D379E,Missense_D380E exm575915 6 123714778 [T/C] NM_006073,NM_001251987 TRDN,TRDN EXON Missense_A366T,Missense_A367T exm2270397 6 123749752 [T/C] NM_006073,NM_001251987 TRDN,TRDN Silent,Silent exm575919 6 123759243 [T/C] NM_006073,NM_001251987 TRDN,TRDN EXON Missense_S339N,Missense_S340N exm575927 6 123818394 [T/C] NM_006073,NM_001251987,NM_001256020 TRDN,TRDN,TRDN EXON Missense_Q266R,Missense_Q266R,Silent exm2243112 6 123824929 [A/G] NM_006073,NM_001251987,NM_001256020,NM_001256021 TRDN,TRDN,TRDN,TRDN EXON Missense_T243I,Missense_T243I,Missense_T243I,Missense_T243I exm575932 6 123824936 [A/G] NM_006073,NM_001251987,NM_001256020,NM_001256021 TRDN,TRDN,TRDN,TRDN EXON Nonsense_Q241X,Nonsense_Q241X,Nonsense_Q241X,Nonsense_Q241X exm575937 6 123833457 [G/C] NM_006073,NM_001251987,NM_001256020,NM_001256021 TRDN,TRDN,TRDN,TRDN EXON Missense_L201V,Missense_L201V,Missense_L201V,Missense_L201V exm575942 6 123868506 [T/C] NM_006073,NM_001251987,NM_001256020,NM_001256021,NM_001256022 TRDN,TRDN,TRDN,TRDN,TRDN EXON Missense_E135K,Missense_E135K,Missense_E135K,Missense_E135K,Missense_E135K exm575943 6 123869607 [G/C] NM_006073,NM_001251987,NM_001256020,NM_001256021,NM_001256022 TRDN,TRDN,TRDN,TRDN,TRDN EXON Missense_T128S,Missense_T128S,Missense_T128S,Missense_T128S,Missense_T128S exm575945 6 123869623 [T/C] NM_006073,NM_001251987,NM_001256020,NM_001256021,NM_001256022 TRDN,TRDN,TRDN,TRDN,TRDN EXON Missense_D123N,Missense_D123N,Missense_D123N,Missense_D123N,Missense_D123N exm575950 6 123869716 [T/C] NM_006073,NM_001251987,NM_001256020,NM_001256021,NM_001256022 TRDN,TRDN,TRDN,TRDN,TRDN EXON Missense_V92I,Missense_V92I,Missense_V92I,Missense_V92I,Missense_V92I exm2262035 6 124098943 [A/C] exm2266251 6 124310564 [A/G] NM_153355,NM_001040214 NKAIN2,NKAIN2 Silent,Silent exm575968 6 124676482 [A/G] NM_153355,NM_001040214 NKAIN2,NKAIN2 EXON Missense_D88N,Missense_D88N exm-rs9491140 6 124691237 [T/C] NM_153355,NM_001040214 NKAIN2,NKAIN2 Silent,Silent exm2270517 6 124841336 [T/C] NM_153355,NM_001040214 NKAIN2,NKAIN2 Silent,Silent exm2257501 6 125125128 [T/C] NM_153355,NM_001040214 NKAIN2,NKAIN2 Silent,Silent exm-rs567448 6 125374466 [A/G] NM_152553 RNF217 Silent exm576146 6 125379112 [A/G] NM_152553 RNF217 EXON Missense_V89I exm576152 6 125379191 [A/G] NM_152553 RNF217 EXON Missense_R115H exm576153 6 125379202 [A/G] NM_152553 RNF217 EXON Missense_S119G exm576158 6 125397891 [A/G] NM_152553 RNF217 EXON Missense_R165H exm576170 6 125403624 [A/G] NM_152553 RNF217 EXON Missense_I237V exm2110190 6 125403691 [T/A] NM_152553 RNF217 EXON Missense_L259Q exm576173 6 125403700 [T/A] NM_152553 RNF217 EXON Missense_L262Q exm576182 6 125475101 [G/C] NM_003287,NM_001003396,NM_001003397 TPD52L1,TPD52L1,TPD52L1 EXON Missense_E2Q,Missense_E2Q,Missense_E2Q exm576192 6 125541286 [T/C] NM_003287,NM_001003396,NM_001003397,NM_001003395 TPD52L1,TPD52L1,TPD52L1,TPD52L1 EXON Missense_S28P,Missense_S28P,Missense_S28P,Silent exm576201 6 125550313 [A/G] NM_003287,NM_001003396,NM_001003397,NM_001003395 TPD52L1,TPD52L1,TPD52L1,TPD52L1 EXON Missense_R62K,Missense_R62K,Missense_R62K,Missense_R33K exm576203 6 125550328 [T/C] NM_003287,NM_001003396,NM_001003397,NM_001003395 TPD52L1,TPD52L1,TPD52L1,TPD52L1 EXON Missense_I67T,Missense_I67T,Missense_I67T,Missense_I38T exm576207 6 125569426 [A/G] NM_003287,NM_001003396,NM_001003397,NM_001003395 TPD52L1,TPD52L1,TPD52L1,TPD52L1 Silent,Silent,Silent,Silent exm2270399 6 125576372 [T/C] NM_003287,NM_001003396,NM_001003397,NM_001003395 TPD52L1,TPD52L1,TPD52L1,TPD52L1 Silent,Silent,Silent,Silent exm576244 6 125619955 [A/G] NM_016063 HDDC2 EXON Missense_R72C exm576246 6 125621692 [T/G] NM_016063 HDDC2 EXON Missense_N66K exm576247 6 125621700 [A/G] NM_016063 HDDC2 EXON Missense_R64C exm576249 6 125621736 [A/G] NM_016063 HDDC2 EXON Missense_R52W exm576250 6 125621744 [T/C] NM_016063 HDDC2 EXON Missense_H49R exm576253 6 125621795 [T/C] NM_016063 HDDC2 EXON Missense_R32Q exm576266 6 126072954 [A/G] NM_012259 HEY2 EXON Missense_T31A exm576268 6 126072990 [A/T] NM_012259 HEY2 EXON Missense_T43S exm576274 6 126073236 [A/G] NM_012259 HEY2 EXON Synonymous_Q82Q exm2243114 6 126080352 [A/G] NM_012259 HEY2 EXON Missense_V140M exm576290 6 126080470 [T/C] NM_012259 HEY2 EXON Missense_P179L exm576315 6 126080823 [A/G] NM_012259 HEY2 EXON Missense_V297M exm576324 6 126080899 [A/C] NM_012259 HEY2 EXON Missense_T322K exm576331 6 126136540 [T/C] NM_001199619,NM_001199620,NM_181782,NM_001199621,NM_001122842 NCOA7,NCOA7,NCOA7,NCOA7,NCOA7 EXON Missense_Y14H,Missense_Y14H,Missense_Y14H,Silent,Missense_Y14H exm576340 6 126176301 [T/A] NM_001199619,NM_001199620,NM_181782,NM_001199621,NM_001122842 NCOA7,NCOA7,NCOA7,NCOA7,NCOA7 EXON Missense_E62D,Missense_E62D,Missense_E62D,Silent,Missense_E62D exm576342 6 126176350 [A/G] NM_001199619,NM_001199620,NM_181782,NM_001199621,NM_001122842 NCOA7,NCOA7,NCOA7,NCOA7,NCOA7 EXON Missense_I79V,Missense_I79V,Missense_I79V,Silent,Missense_I79V exm576343 6 126196076 [A/G] NM_001199619,NM_001199620,NM_181782,NM_001199621,NM_001122842 NCOA7,NCOA7,NCOA7,NCOA7,NCOA7 EXON Missense_M105V,Missense_M105V,Missense_M105V,Missense_M1V,Missense_M105V exm576346 6 126199409 [T/G] NM_001199619,NM_001199620,NM_181782,NM_001199621,NM_001122842 NCOA7,NCOA7,NCOA7,NCOA7,NCOA7 EXON Missense_A118S,Missense_A118S,Missense_A118S,Missense_A14S,Missense_A118S exm576354 6 126202315 [T/C] NM_001199619,NM_001199620,NM_181782,NM_001199621,NM_001122842 NCOA7,NCOA7,NCOA7,NCOA7,NCOA7 EXON Missense_P180L,Missense_P180L,Missense_P180L,Missense_P76L,Missense_P180L exm576372 6 126210185 [A/C] NM_001199619,NM_001199620,NM_181782,NM_001199621,NM_001122842 NCOA7,NCOA7,NCOA7,NCOA7,NCOA7 EXON Missense_N329H,Missense_N329H,Missense_N329H,Missense_N214H,Missense_N318H exm576381 6 126210390 [T/C] NM_001199619,NM_001199620,NM_181782,NM_001199621,NM_001122842 NCOA7,NCOA7,NCOA7,NCOA7,NCOA7 EXON Missense_T397I,Missense_T397I,Missense_T397I,Missense_T282I,Missense_T386I exm576382 6 126210395 [T/G] NM_001199619,NM_001199620,NM_181782,NM_001199621,NM_001122842 NCOA7,NCOA7,NCOA7,NCOA7,NCOA7 EXON Missense_S399A,Missense_S399A,Missense_S399A,Missense_S284A,Missense_S388A exm576389 6 126210596 [A/G] NM_001199619,NM_001199620,NM_181782,NM_001199621,NM_001122842 NCOA7,NCOA7,NCOA7,NCOA7,NCOA7 EXON Missense_A466T,Missense_A466T,Missense_A466T,Missense_A351T,Missense_A455T exm576398 6 126210797 [A/G] NM_001199619,NM_001199620,NM_181782,NM_001199621,NM_001122842 NCOA7,NCOA7,NCOA7,NCOA7,NCOA7 EXON Missense_G533R,Missense_G533R,Missense_G533R,Missense_G418R,Missense_G522R exm576404 6 126210939 [A/G] NM_001199619,NM_001199620,NM_181782,NM_001199621,NM_001122842 NCOA7,NCOA7,NCOA7,NCOA7,NCOA7 EXON Missense_K580R,Missense_K580R,Missense_K580R,Missense_K465R,Missense_K569R exm576405 6 126210956 [A/G] NM_001199619,NM_001199620,NM_181782,NM_001199621,NM_001122842 NCOA7,NCOA7,NCOA7,NCOA7,NCOA7 EXON Missense_G586R,Missense_G586R,Missense_G586R,Missense_G471R,Missense_G575R exm576412 6 126211892 [A/G] NM_001199619,NM_001199620,NM_181782,NM_001199621,NM_001122842 NCOA7,NCOA7,NCOA7,NCOA7,NCOA7 EXON Missense_M678V,Missense_M678V,Missense_M678V,Missense_M563V,Missense_M667V exm2110269 6 126211913 [T/C] NM_001199619,NM_001199620,NM_181782,NM_001199621,NM_001122842 NCOA7,NCOA7,NCOA7,NCOA7,NCOA7 EXON Missense_R685W,Missense_R685W,Missense_R685W,Missense_R570W,Missense_R674W exm576433 6 126242186 [T/C] NM_001199619,NM_001199620,NM_181782,NM_001199621,NM_001122842,NM_001199622 NCOA7,NCOA7,NCOA7,NCOA7,NCOA7,NCOA7 EXON Missense_A781V,Missense_A781V,Missense_A781V,Missense_A666V,Missense_A770V,Missense_A58V exm2257503 6 126248374 [T/C] NM_001199619,NM_001199620,NM_181782,NM_001199621,NM_001122842,NM_001199622 NCOA7,NCOA7,NCOA7,NCOA7,NCOA7,NCOA7 Silent,Silent,Silent,Silent,Silent,Silent exm576444 6 126249320 [T/G] NM_001199619,NM_001199620,NM_181782,NM_001199621,NM_001122842,NM_001199622 NCOA7,NCOA7,NCOA7,NCOA7,NCOA7,NCOA7 EXON Missense_V874F,Missense_V874F,Missense_V874F,Missense_V759F,Missense_V863F,Missense_V151F exm576452 6 126249914 [T/G] NM_001199619,NM_001199620,NM_181782,NM_001199621,NM_001122842,NM_001199622 NCOA7,NCOA7,NCOA7,NCOA7,NCOA7,NCOA7 EXON Missense_D942E,Missense_D942E,Missense_D942E,Missense_D827E,Missense_D931E,Missense_D219E exm576456 6 126278230 [G/C] NM_138571 HINT3 EXON Missense_G36A exm576464 6 126288109 [T/C] NM_138571 HINT3 EXON Missense_I93T exm576465 6 126288120 [T/A] NM_138571 HINT3 EXON Nonsense_R97X exm576469 6 126293434 [A/G] NM_138571 HINT3 EXON Missense_I117V exm576471 6 126293461 [T/A] NM_138571 HINT3 EXON Missense_F126I exm576473 6 126295993 [A/G] NM_138571 HINT3 EXON Synonymous_R130R exm576474 6 126295995 [T/C] NM_138571 HINT3 EXON Missense_M131T exm576475 6 126295996 [T/G] NM_138571 HINT3 EXON Missense_M131I exm576480 6 126307709 [T/A] NM_001031712 TRMT11 EXON Missense_C5S exm576493 6 126317137 [T/C] NM_001031712 TRMT11 EXON Missense_P55S exm576519 6 126329589 [A/G] NM_001031712 TRMT11 EXON Missense_D244G exm576526 6 126332554 [A/G] NM_001031712 TRMT11 EXON Missense_I306V exm576530 6 126334193 [A/G] NM_001031712 TRMT11 EXON Missense_E362G exm576533 6 126334241 [T/C] NM_001031712 TRMT11 EXON Missense_T378M exm576541 6 126342391 [T/C] NM_001031712 TRMT11 EXON Missense_R409C exm576551 6 126359894 [T/C] NM_001031712 TRMT11 EXON Missense_P435L exm2266340 6 126392441 [A/G] exm-rs9491563 6 126449345 [A/G] exm2257504 6 126600533 [A/C] exm576562 6 126661502 [T/G] NM_001012507 CENPW EXON Missense_R28L exm576570 6 126667415 [T/C] NM_001012507 CENPW EXON Missense_A64V exm-rs9388489 6 126698719 [A/G] exm-rs1361108 6 126767600 [T/C] exm-rs1490388 6 126835655 [T/C] exm-rs1490384 6 126851160 [T/C] exm-rs4549631 6 126966308 [T/C] exm-rs13204965 6 127167072 [A/C] exm2257505 6 127208390 [A/G] exm-rs972275 6 127391844 [C/G] exm-rs9491689 6 127398595 [A/C] exm-rs1936797 6 127432657 [A/G] exm576577 6 127440383 [A/G] NM_032784 RSPO3 EXON Missense_M16V exm-rs9491696 6 127452639 [C/G] NM_032784 RSPO3 Silent exm576579 6 127469804 [A/G] NM_032784 RSPO3 EXON Missense_V37I exm2257506 6 127476516 [A/G] NM_032784 RSPO3 EXON Synonymous_L189L exm2270518 6 127477441 [T/C] NM_032784 RSPO3 Silent exm576597 6 127517076 [A/G] NM_032784 RSPO3 EXON Missense_R248Q exm-rs2180341 6 127600630 [A/G] NM_001242851,NM_001242844,NM_001242849,NM_001242852,NR_045102,NM_001242850,NM_030963,NR_045103,NM_001242846,NM_001242845 RNF146,RNF146,RNF146,RNF146,RNF146,RNF146,RNF146,RNF146,RNF146,RNF146 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm576609 6 127607831 [T/C] NM_001242851,NM_001242844,NM_001242849,NM_001242852,NR_045102,NM_001242850,NM_030963,NR_045103,NM_001242846,NM_001242845 RNF146,RNF146,RNF146,RNF146,RNF146,RNF146,RNF146,RNF146,RNF146,RNF146 EXON Missense_C25R,Missense_C24R,Missense_C25R,Missense_C24R,Silent,Missense_C25R,Missense_C24R,Silent,Missense_C24R,Missense_C24R exm576624 6 127608290 [A/G] NM_001242851,NM_001242844,NM_001242849,NM_001242852,NR_045102,NM_001242850,NM_030963,NR_045103,NM_001242846,NM_001242845 RNF146,RNF146,RNF146,RNF146,RNF146,RNF146,RNF146,RNF146,RNF146,RNF146 EXON Missense_V178I,Missense_V177I,Missense_V178I,Missense_V177I,Silent,Missense_V178I,Missense_V177I,Silent,Missense_V177I,Missense_V177I exm576627 6 127608365 [A/G] NM_001242851,NM_001242844,NM_001242849,NM_001242852,NR_045102,NM_001242850,NM_030963,NR_045103,NM_001242846,NM_001242845 RNF146,RNF146,RNF146,RNF146,RNF146,RNF146,RNF146,RNF146,RNF146,RNF146 EXON Missense_S203G,Missense_S202G,Missense_S203G,Missense_S202G,Silent,Missense_S203G,Missense_S202G,Silent,Missense_S202G,Missense_S202G exm576638 6 127608728 [A/G] NM_001242851,NM_001242844,NM_001242849,NM_001242852,NR_045102,NM_001242850,NM_030963,NR_045103,NM_001242846,NM_001242845 RNF146,RNF146,RNF146,RNF146,RNF146,RNF146,RNF146,RNF146,RNF146,RNF146 EXON Missense_D324N,Missense_D323N,Missense_D324N,Missense_D323N,Silent,Missense_D324N,Missense_D323N,Silent,Missense_D323N,Missense_D323N exm576641 6 127608743 [A/T] NM_001242851,NM_001242844,NM_001242849,NM_001242852,NR_045102,NM_001242850,NM_030963,NR_045103,NM_001242846,NM_001242845 RNF146,RNF146,RNF146,RNF146,RNF146,RNF146,RNF146,RNF146,RNF146,RNF146 EXON Missense_S329T,Missense_S328T,Missense_S329T,Missense_S328T,Silent,Missense_S329T,Missense_S328T,Silent,Missense_S328T,Missense_S328T exm576652 6 127611098 [A/C] NM_018479,NM_001139510,NM_001002030,NM_001105545,NM_001105544 ECHDC1,ECHDC1,ECHDC1,ECHDC1,ECHDC1 EXON Silent,Missense_Q280H,Missense_Q274H,Silent,Missense_Q199H exm576661 6 127611346 [A/G] NM_018479,NM_001139510,NM_001002030,NM_001105545,NM_001105544 ECHDC1,ECHDC1,ECHDC1,ECHDC1,ECHDC1 EXON Silent,Missense_R198W,Missense_R192W,Silent,Missense_R117W exm576664 6 127611407 [C/G] NM_018479,NM_001139510,NM_001002030,NM_001105545,NM_001105544 ECHDC1,ECHDC1,ECHDC1,ECHDC1,ECHDC1 EXON Silent,Missense_E177D,Missense_E171D,Silent,Missense_E96D exm576668 6 127635976 [A/G] NM_018479,NM_001139510,NM_001002030,NM_001105545,NM_001105544 ECHDC1,ECHDC1,ECHDC1,ECHDC1,ECHDC1 EXON Synonymous_Y143Y,Missense_T167I,Missense_T161I,Synonymous_Y68Y,Missense_T86I exm2274181 6 127637607 [A/G] NM_018479,NM_001139510,NM_001002030,NM_001105545,NM_001105544 ECHDC1,ECHDC1,ECHDC1,ECHDC1,ECHDC1 EXON Silent,Missense_T141I,Missense_T135I,Silent,Missense_T60I exm576687 6 127651971 [T/C] NM_018479,NM_001139510,NM_001002030,NM_001105545,NM_001105544 ECHDC1,ECHDC1,ECHDC1,ECHDC1,ECHDC1 EXON Missense_R68K,Missense_R74K,Missense_R68K,Silent,Silent exm576696 6 127765277 [A/G] NM_001012279,NM_014702 SOGA3,KIAA0408 EXON Silent,Nonsense_R688X exm576723 6 127767939 [T/G] NM_001012279,NM_014702 SOGA3,KIAA0408 EXON Silent,Missense_P509T exm576726 6 127767954 [A/G] NM_001012279,NM_014702 SOGA3,KIAA0408 EXON Silent,Missense_P504S exm576730 6 127768021 [T/G] NM_001012279,NM_014702 SOGA3,KIAA0408 EXON Silent,Missense_H481Q exm576735 6 127768281 [A/G] NM_001012279,NM_014702 SOGA3,KIAA0408 EXON Silent,Missense_P395S exm576745 6 127768472 [A/G] NM_001012279,NM_014702 SOGA3,KIAA0408 EXON Silent,Missense_S331L exm576746 6 127768485 [T/C] NM_001012279,NM_014702 SOGA3,KIAA0408 EXON Silent,Missense_E327K exm576750 6 127768515 [T/G] NM_001012279,NM_014702 SOGA3,KIAA0408 EXON Silent,Missense_Q317K exm576751 6 127768556 [A/C] NM_001012279,NM_014702 SOGA3,KIAA0408 EXON Silent,Missense_G303V exm576752 6 127768566 [A/G] NM_001012279,NM_014702 SOGA3,KIAA0408 EXON Silent,Missense_P300S exm576758 6 127768625 [A/G] NM_001012279,NM_014702 SOGA3,KIAA0408 EXON Silent,Missense_S280L exm576762 6 127768718 [A/G] NM_001012279,NM_014702 SOGA3,KIAA0408 EXON Silent,Missense_T249M exm576770 6 127770982 [T/C] NM_001012279,NM_014702 SOGA3,KIAA0408 EXON Silent,Missense_R188Q exm576782 6 127771398 [C/G] NM_001012279,NM_014702 SOGA3,KIAA0408 EXON Silent,Missense_E79Q exm576783 6 127771400 [A/G] NM_001012279,NM_014702 SOGA3,KIAA0408 EXON Silent,Missense_I78T exm576785 6 127771452 [T/G] NM_001012279,NM_014702 SOGA3,KIAA0408 EXON Silent,Missense_S61R exm2257508 6 127797341 [T/C] NM_001012279 SOGA3 EXON Synonymous_V610V exm576836 6 127836033 [C/G] NM_001012279 SOGA3 EXON Missense_L421V exm576850 6 127837039 [T/C] NM_001012279 SOGA3 EXON Missense_G241S exm576855 6 127837125 [T/C] NM_001012279 SOGA3 EXON Missense_E212G exm576857 6 127837132 [T/C] NM_001012279 SOGA3 EXON Missense_G210S exm576874 6 127898374 [T/G] NM_001010905 C6orf58 EXON Missense_F15C exm576877 6 127898481 [A/G] NM_001010905 C6orf58 EXON Missense_I51V exm576883 6 127898537 [A/T] NM_001010905 C6orf58 EXON Missense_N69K exm576889 6 127899845 [C/G] NM_001010905 C6orf58 EXON Missense_P106A exm576900 6 127901535 [A/G] NM_001010905 C6orf58 EXON Missense_V172I exm576915 6 127911408 [C/G] NM_001010905 C6orf58 EXON Missense_T284S exm576918 6 127911453 [A/G] NM_001010905 C6orf58 EXON Missense_N299S exm576919 6 127912696 [T/G] NM_001010905 C6orf58 EXON Missense_C308G exm576920 6 127912709 [T/C] NM_001010905 C6orf58 EXON Missense_S312F exm576921 6 127912730 [T/C] NM_001010905 C6orf58 EXON Missense_S319L exm2270401 6 127929801 [T/C] exm-rs629648 6 128018507 [A/G] exm576931 6 128040839 [T/C] NM_001010923,NM_001164687,NM_001164685 THEMIS,THEMIS,THEMIS EXON Missense_I630V,Missense_I595V,Missense_I669V exm576932 6 128040878 [T/C] NM_001010923,NM_001164687,NM_001164685 THEMIS,THEMIS,THEMIS EXON Missense_D617N,Missense_D582N,Missense_D656N exm576936 6 128040925 [A/G] NM_001010923,NM_001164687,NM_001164685 THEMIS,THEMIS,THEMIS EXON Missense_A601V,Missense_A566V,Missense_A640V exm2110430 6 128134035 [A/G] NM_001010923,NM_001164687,NM_001164685 THEMIS,THEMIS,THEMIS EXON Missense_S584F,Missense_S549F,Missense_S584F exm576945 6 128134098 [A/G] NM_001010923,NM_001164687,NM_001164685 THEMIS,THEMIS,THEMIS EXON Missense_V563A,Missense_V528A,Missense_V563A exm2277303 6 128134186 [G/C] NM_001010923,NM_001164687,NM_001164685 THEMIS,THEMIS,THEMIS EXON Missense_E534Q,Missense_E499Q,Missense_E534Q exm576952 6 128134314 [A/T] NM_001010923,NM_001164687,NM_001164685 THEMIS,THEMIS,THEMIS EXON Missense_L491H,Missense_L456H,Missense_L491H exm576956 6 128134386 [A/G] NM_001010923,NM_001164687,NM_001164685 THEMIS,THEMIS,THEMIS EXON Missense_S467F,Missense_S432F,Missense_S467F exm576964 6 128134516 [T/C] NM_001010923,NM_001164687,NM_001164685 THEMIS,THEMIS,THEMIS EXON Missense_A424T,Missense_A389T,Missense_A424T exm576971 6 128134671 [T/G] NM_001010923,NM_001164687,NM_001164685 THEMIS,THEMIS,THEMIS EXON Missense_A372E,Missense_A337E,Missense_A372E exm576980 6 128134734 [A/G] NM_001010923,NM_001164687,NM_001164685 THEMIS,THEMIS,THEMIS EXON Missense_T351M,Missense_T316M,Missense_T351M exm576991 6 128135032 [T/C] NM_001010923,NM_001164687,NM_001164685 THEMIS,THEMIS,THEMIS EXON Missense_V252I,Missense_V217I,Missense_V252I exm2257509 6 128150637 [T/A] NM_001010923,NM_001164687,NM_001164685 THEMIS,THEMIS,THEMIS EXON Synonymous_I231I,Synonymous_I196I,Synonymous_I231I exm576999 6 128150708 [T/C] NM_001010923,NM_001164687,NM_001164685 THEMIS,THEMIS,THEMIS EXON Missense_K208E,Missense_K173E,Missense_K208E exm577003 6 128150821 [T/C] NM_001010923,NM_001164687,NM_001164685 THEMIS,THEMIS,THEMIS EXON Missense_E170G,Missense_E135G,Missense_E170G exm2264182 6 128155948 [A/C] NM_001010923,NM_001164687,NM_001164685 THEMIS,THEMIS,THEMIS Silent,Silent,Silent exm577020 6 128176318 [A/G] NM_001010923,NM_001164687,NM_001164685 THEMIS,THEMIS,THEMIS EXON Missense_M36T,Missense_M1T,Missense_M36T exm577021 6 128176327 [A/G] NM_001010923,NM_001164687,NM_001164685 THEMIS,THEMIS,THEMIS EXON Missense_I33T,Silent,Missense_I33T exm-rs802734 6 128278798 [A/G] exm577045 6 128303989 [T/A] NM_002844,NM_001135648 PTPRK,PTPRK EXON Missense_K1175M,Missense_K1181M exm577050 6 128306864 [A/G] NM_002844,NM_001135648 PTPRK,PTPRK Silent,Silent exm2110479 6 128306920 [T/C] NM_002844,NM_001135648 PTPRK,PTPRK EXON Missense_R1066Q,Missense_R1072Q exm577052 6 128306977 [A/G] NM_002844,NM_001135648 PTPRK,PTPRK EXON Missense_T1047M,Missense_T1053M exm577065 6 128312531 [T/C] NM_002844,NM_001135648 PTPRK,PTPRK EXON Missense_V963I,Missense_V969I exm577072 6 128319987 [T/C] NM_002844,NM_001135648 PTPRK,PTPRK EXON Missense_E853K,Missense_E853K exm577073 6 128319998 [T/C] NM_002844,NM_001135648 PTPRK,PTPRK EXON Missense_R849H,Missense_R849H exm577074 6 128319999 [A/G] NM_002844,NM_001135648 PTPRK,PTPRK EXON Missense_R849C,Missense_R849C exm577077 6 128320042 [T/G] NM_002844,NM_001135648 PTPRK,PTPRK EXON Missense_N834K,Missense_N834K exm577122 6 128388892 [A/C] NM_002844,NM_001135648 PTPRK,PTPRK EXON Missense_K643N,Missense_K643N exm577130 6 128403648 [T/C] NM_002844,NM_001135648 PTPRK,PTPRK EXON Missense_I571V,Missense_I571V exm577131 6 128403675 [A/G] NM_002844,NM_001135648 PTPRK,PTPRK EXON Missense_H562Y,Missense_H562Y exm2257512 6 128411109 [T/C] NM_002844,NM_001135648 PTPRK,PTPRK EXON Synonymous_K397K,Synonymous_K397K exm-rs10499138 6 128492182 [A/T] NM_002844,NM_001135648 PTPRK,PTPRK Silent,Silent exm2257513 6 128505668 [A/G] NM_002844,NM_001135648 PTPRK,PTPRK EXON Synonymous_T357T,Synonymous_T357T exm577181 6 128643194 [T/C] NM_002844,NM_001135648 PTPRK,PTPRK EXON Missense_N162S,Missense_N162S exm577184 6 128643245 [A/G] NM_002844,NM_001135648 PTPRK,PTPRK EXON Missense_T145M,Missense_T145M exm577188 6 128643390 [T/C] NM_002844,NM_001135648 PTPRK,PTPRK EXON Missense_T97A,Missense_T97A exm2270519 6 128709493 [T/C] NM_002844,NM_001135648 PTPRK,PTPRK Silent,Silent exm577190 6 128718737 [T/C] NM_002844,NM_001135648 PTPRK,PTPRK EXON Missense_H66R,Missense_H66R exm577191 6 128718743 [T/C] NM_002844,NM_001135648 PTPRK,PTPRK EXON Missense_E64G,Missense_E64G exm577194 6 128718818 [T/C] NM_002844,NM_001135648 PTPRK,PTPRK EXON Missense_D39G,Missense_D39G exm2270402 6 128832425 [T/C] NM_002844,NM_001135648 PTPRK,PTPRK Silent,Silent exm577207 6 128841439 [A/G] NM_002844,NM_001135648 PTPRK,PTPRK EXON Missense_P22L,Missense_P22L exm2264183 6 128979455 [A/C] exm577224 6 129371201 [A/G] NM_001079823,NM_000426 LAMA2,LAMA2 EXON Missense_R84Q,Missense_R84Q exm577238 6 129419358 [C/G] NM_001079823,NM_000426 LAMA2,LAMA2 EXON Missense_S146C,Missense_S146C exm577245 6 129419454 [T/C] NM_001079823,NM_000426 LAMA2,LAMA2 EXON Missense_T178M,Missense_T178M exm577256 6 129465121 [T/C] NM_001079823,NM_000426 LAMA2,LAMA2 EXON Missense_R239C,Missense_R239C exm577263 6 129468186 [T/C] NM_001079823,NM_000426 LAMA2,LAMA2 EXON Missense_A301V,Missense_A301V exm577265 6 129470136 [A/G] NM_001079823,NM_000426 LAMA2,LAMA2 EXON Missense_E308K,Missense_E308K exm577266 6 129470160 [A/G] NM_001079823,NM_000426 LAMA2,LAMA2 EXON Missense_D316N,Missense_D316N exm577278 6 129498852 [T/G] NM_001079823,NM_000426 LAMA2,LAMA2 EXON Synonymous_G436G,Synonymous_G436G exm577280 6 129498917 [A/G] NM_001079823,NM_000426 LAMA2,LAMA2 EXON Missense_R458K,Missense_R458K exm577284 6 129498944 [A/G] NM_001079823,NM_000426 LAMA2,LAMA2 EXON Missense_K467R,Missense_K467R exm577285 6 129498947 [C/G] NM_001079823,NM_000426 LAMA2,LAMA2 EXON Missense_A468G,Missense_A468G exm577299 6 129513837 [A/G] NM_001079823,NM_000426 LAMA2,LAMA2 EXON Missense_S541G,Missense_S541G exm577300 6 129513846 [T/G] NM_001079823,NM_000426 LAMA2,LAMA2 EXON Missense_Y544D,Missense_Y544D exm577301 6 129513850 [A/T] NM_001079823,NM_000426 LAMA2,LAMA2 EXON Missense_L545Q,Missense_L545Q exm577302 6 129513861 [T/C] NM_001079823,NM_000426 LAMA2,LAMA2 EXON Missense_P549S,Missense_P549S exm577314 6 129571272 [A/G] NM_001079823,NM_000426 LAMA2,LAMA2 EXON Missense_G600R,Missense_G600R exm577315 6 129571288 [T/C] NM_001079823,NM_000426 LAMA2,LAMA2 EXON Missense_T605I,Missense_T605I exm577316 6 129571330 [A/G] NM_001079823,NM_000426 LAMA2,LAMA2 EXON Missense_R619H,Missense_R619H exm577318 6 129571347 [A/G] NM_001079823,NM_000426 LAMA2,LAMA2 EXON Missense_I625V,Missense_I625V exm577320 6 129573274 [G/C] NM_001079823,NM_000426 LAMA2,LAMA2 EXON Missense_H644D,Missense_H644D exm577323 6 129573353 [A/G] NM_001079823,NM_000426 LAMA2,LAMA2 EXON Missense_R670H,Missense_R670H exm577328 6 129581874 [T/G] NM_001079823,NM_000426 LAMA2,LAMA2 EXON Synonymous_L705L,Synonymous_L705L exm2257516 6 129581874 [T/G] NM_001079823,NM_000426 LAMA2,LAMA2 EXON Synonymous_L705L,Synonymous_L705L exm577333 6 129588259 [T/G] NM_001079823,NM_000426 LAMA2,LAMA2 EXON Missense_W739C,Missense_W739C exm577337 6 129588330 [T/C] NM_001079823,NM_000426 LAMA2,LAMA2 EXON Missense_A763V,Missense_A763V exm577351 6 129601217 [T/C] NM_001079823,NM_000426 LAMA2,LAMA2 EXON Missense_T821M,Missense_T821M exm577352 6 129601231 [T/C] NM_001079823,NM_000426 LAMA2,LAMA2 EXON Missense_R826W,Missense_R826W exm577356 6 129601267 [A/G] NM_001079823,NM_000426 LAMA2,LAMA2 EXON Missense_G838R,Missense_G838R exm577360 6 129609124 [A/C] NM_001079823,NM_000426 LAMA2,LAMA2 EXON Missense_K890N,Missense_K890N exm577363 6 129612764 [T/C] NM_001079823,NM_000426 LAMA2,LAMA2 EXON Missense_R919C,Missense_R919C exm577364 6 129612765 [T/G] NM_001079823,NM_000426 LAMA2,LAMA2 EXON Missense_R919L,Missense_R919L exm577366 6 129612776 [A/G] NM_001079823,NM_000426 LAMA2,LAMA2 EXON Missense_G923S,Missense_G923S exm577375 6 129618966 [A/G] NM_001079823,NM_000426 LAMA2,LAMA2 EXON Missense_R998H,Missense_R998H exm577400 6 129634127 [A/G] NM_001079823,NM_000426 LAMA2,LAMA2 EXON Missense_N1099S,Missense_N1099S exm577405 6 129635800 [A/G] NM_001079823,NM_000426 LAMA2,LAMA2 EXON Missense_V1138M,Missense_V1138M exm577409 6 129635920 [A/G] NM_001079823,NM_000426 LAMA2,LAMA2 EXON Missense_A1178T,Missense_A1178T exm577416 6 129636678 [A/G] NM_001079823,NM_000426 LAMA2,LAMA2 EXON Missense_T1205A,Missense_T1205A exm2274182 6 129636681 [A/G] NM_001079823,NM_000426 LAMA2,LAMA2 EXON Missense_T1206A,Missense_T1206A exm577417 6 129636693 [A/G] NM_001079823,NM_000426 LAMA2,LAMA2 EXON Missense_I1210V,Missense_I1210V exm577433 6 129637268 [A/G] NM_001079823,NM_000426 LAMA2,LAMA2 EXON Missense_H1337R,Missense_H1337R exm577434 6 129641684 [A/G] NM_001079823,NM_000426 LAMA2,LAMA2 EXON Missense_I1354V,Missense_I1354V exm577440 6 129649451 [A/G] NM_001079823,NM_000426 LAMA2,LAMA2 EXON Missense_R1402H,Missense_R1402H exm577445 6 129663525 [A/G] NM_001079823,NM_000426 LAMA2,LAMA2 EXON Missense_R1450Q,Missense_R1450Q exm577450 6 129670490 [T/C] NM_001079823,NM_000426 LAMA2,LAMA2 EXON Missense_T1495M,Missense_T1495M exm577452 6 129670493 [T/C] NM_001079823,NM_000426 LAMA2,LAMA2 EXON Missense_A1496V,Missense_A1496V exm577460 6 129687396 [A/G] NM_001079823,NM_000426 LAMA2,LAMA2 EXON Missense_G1584S,Missense_G1584S exm577471 6 129691106 [A/G] NM_001079823,NM_000426 LAMA2,LAMA2 EXON Missense_V1644M,Missense_V1644M exm577479 6 129704328 [A/G] NM_001079823,NM_000426 LAMA2,LAMA2 EXON Missense_R1674K,Missense_R1674K exm577481 6 129704357 [A/G] NM_001079823,NM_000426 LAMA2,LAMA2 EXON Missense_E1684K,Missense_E1684K exm2266254 6 129716209 [A/G] NM_001079823,NM_000426 LAMA2,LAMA2 Silent,Silent exm577504 6 129722453 [A/C] NM_001079823,NM_000426 LAMA2,LAMA2 EXON Missense_R1844S,Missense_R1844S exm577505 6 129722454 [A/G] NM_001079823,NM_000426 LAMA2,LAMA2 EXON Missense_R1844H,Missense_R1844H exm577509 6 129722481 [T/G] NM_001079823,NM_000426 LAMA2,LAMA2 EXON Missense_I1853R,Missense_I1853R exm577513 6 129723539 [T/C] NM_001079823,NM_000426 LAMA2,LAMA2 EXON Missense_S1878F,Missense_S1878F exm577524 6 129748940 [G/C] NM_001079823,NM_000426 LAMA2,LAMA2 EXON Missense_C1970S,Missense_C1970S exm577533 6 129759824 [A/G] NM_001079823,NM_000426 LAMA2,LAMA2 EXON Missense_R2001K,Missense_R2001K exm577535 6 129762003 [A/G] NM_001079823,NM_000426 LAMA2,LAMA2 EXON Missense_Q2043R,Missense_Q2043R exm577538 6 129762036 [A/G] NM_001079823,NM_000426 LAMA2,LAMA2 EXON Missense_Q2054R,Missense_Q2054R exm577539 6 129762042 [A/C] NM_001079823,NM_000426 LAMA2,LAMA2 EXON Missense_T2056K,Missense_T2056K exm577542 6 129762081 [A/G] NM_001079823,NM_000426 LAMA2,LAMA2 EXON Missense_Y2069C,Missense_Y2069C exm577545 6 129762104 [A/G] NM_001079823,NM_000426 LAMA2,LAMA2 EXON Missense_A2077T,Missense_A2077T exm577550 6 129763368 [A/G] NM_001079823,NM_000426 LAMA2,LAMA2 EXON Synonymous_K2090K,Synonymous_K2090K exm577571 6 129774209 [A/G] NM_001079823,NM_000426 LAMA2,LAMA2 EXON Missense_N2169S,Missense_N2169S exm577577 6 129775355 [T/C] NM_001079823,NM_000426 LAMA2,LAMA2 EXON Missense_V2210A,Missense_V2210A exm577579 6 129775375 [A/G] NM_001079823,NM_000426 LAMA2,LAMA2 EXON Missense_V2217I,Missense_V2217I exm577584 6 129775418 [A/G] NM_001079823,NM_000426 LAMA2,LAMA2 EXON Missense_R2231H,Missense_R2231H exm577585 6 129775423 [A/G] NM_001079823,NM_000426 LAMA2,LAMA2 EXON Missense_V2233I,Missense_V2233I exm577589 6 129777560 [T/C] NM_001079823,NM_000426 LAMA2,LAMA2 EXON Missense_T2263M,Missense_T2263M exm577594 6 129781361 [A/G] NM_001079823,NM_000426 LAMA2,LAMA2 EXON Missense_R2295H,Missense_R2295H exm577599 6 129785499 [T/C] NM_001079823,NM_000426 LAMA2,LAMA2 EXON Missense_R2353C,Missense_R2353C exm577604 6 129785553 [T/G] NM_001079823,NM_000426 LAMA2,LAMA2 EXON Missense_F2371V,Missense_F2371V exm2110700 6 129786341 [A/G] NM_001079823,NM_000426 LAMA2,LAMA2 EXON Missense_D2403N,Missense_D2403N exm577610 6 129786384 [A/G] NM_001079823,NM_000426 LAMA2,LAMA2 EXON Missense_H2417R,Missense_H2417R exm577621 6 129794489 [T/A] NM_001079823,NM_000426 LAMA2,LAMA2 EXON Missense_R2477S,Missense_R2477S exm2110710 6 129802475 [A/G] NM_001079823,NM_000426 LAMA2,LAMA2 EXON Missense_G2543E,Missense_G2547E exm577635 6 129802516 [A/G] NM_001079823,NM_000426 LAMA2,LAMA2 EXON Missense_G2557S,Missense_G2561S exm577639 6 129807629 [T/C] NM_001079823,NM_000426 LAMA2,LAMA2 EXON Missense_A2583V,Missense_A2587V exm577647 6 129813053 [A/G] NM_001079823,NM_000426 LAMA2,LAMA2 EXON Missense_T2632A,Missense_T2636A exm577651 6 129813132 [T/C] NM_001079823,NM_000426 LAMA2,LAMA2 EXON Missense_V2658A,Missense_V2662A exm577658 6 129813531 [A/G] NM_001079823,NM_000426 LAMA2,LAMA2 EXON Missense_R2712H,Missense_R2716H exm577666 6 129823841 [T/C] NM_001079823,NM_000426 LAMA2,LAMA2 EXON Missense_I2757T,Missense_I2761T exm577671 6 129823915 [T/C] NM_001079823,NM_000426 LAMA2,LAMA2 EXON Missense_R2782C,Missense_R2786C exm2110728 6 129824266 [A/C] NM_001079823,NM_000426 LAMA2,LAMA2 EXON Missense_E2792D,Missense_E2796D exm577690 6 129826441 [A/G] NM_001079823,NM_000426 LAMA2,LAMA2 EXON Missense_V2878M,Missense_V2882M exm577695 6 129828658 [A/G] NM_001079823,NM_000426 LAMA2,LAMA2 EXON Missense_V2906I,Missense_V2910I exm577697 6 129828685 [T/C] NM_001079823,NM_000426 LAMA2,LAMA2 EXON Missense_P2915S,Missense_P2919S exm577700 6 129828704 [T/C] NM_001079823,NM_000426 LAMA2,LAMA2 EXON Missense_P2921L,Missense_P2925L exm577701 6 129828772 [A/G] NM_001079823,NM_000426 LAMA2,LAMA2 EXON Missense_G2944S,Missense_G2948S exm577707 6 129833570 [T/A] NM_001079823,NM_000426 LAMA2,LAMA2 EXON Missense_T2970S,Missense_T2974S exm577711 6 129835530 [C/G] NM_001079823,NM_000426 LAMA2,LAMA2 EXON Missense_V2997L,Missense_V3001L exm577727 6 129837451 [A/G] NM_001079823,NM_000426 LAMA2,LAMA2 EXON Missense_E3106K,Missense_E3110K exm-rs2275215 6 129861392 [T/C] exm577742 6 129905211 [A/G] NM_033515 ARHGAP18 EXON Missense_S587L exm577773 6 129932745 [T/C] NM_033515 ARHGAP18 EXON Missense_R352Q exm577777 6 129937431 [T/C] NM_033515 ARHGAP18 EXON Missense_V324I exm577783 6 129939972 [A/G] NM_033515 ARHGAP18 EXON Missense_T271M exm577788 6 129950541 [T/C] NM_033515 ARHGAP18 EXON Missense_K248R exm2257519 6 129950609 [A/G] NM_033515 ARHGAP18 EXON Synonymous_A225A exm577809 6 129959721 [T/C] NM_033515 ARHGAP18 EXON Missense_G124R exm577817 6 129963048 [T/C] NM_033515 ARHGAP18 EXON Missense_D77N exm577822 6 129963161 [T/C] NM_033515 ARHGAP18 EXON Missense_R39H exm2257520 6 129980436 [T/C] NM_033515 ARHGAP18 Silent exm577824 6 130031188 [T/C] NM_033515 ARHGAP18 EXON Missense_G32R exm577825 6 130031211 [A/G] NM_033515 ARHGAP18 EXON Missense_V24A exm577826 6 130031215 [T/C] NM_033515 ARHGAP18 EXON Missense_T23A exm2266341 6 130081192 [A/G] exm-rs4458716 6 130152296 [A/G] exm577836 6 130152520 [A/C] NM_001010876 TMEM244 EXON Missense_F111V exm577837 6 130152527 [T/C] NM_001010876 TMEM244 EXON Missense_M108I exm577838 6 130152529 [T/G] NM_001010876 TMEM244 EXON Missense_M108L exm577842 6 130154667 [T/C] NM_001010876 TMEM244 EXON Missense_E86G exm577843 6 130154674 [A/C] NM_001010876 TMEM244 EXON Missense_V84F exm577844 6 130154686 [A/G] NM_001010876 TMEM244 EXON Missense_F80L exm577846 6 130154706 [A/G] NM_001010876 TMEM244 EXON Missense_T73I exm577847 6 130164682 [C/G] NM_001010876 TMEM244 EXON Missense_N62K exm577848 6 130164689 [T/A] NM_001010876 TMEM244 EXON Missense_N60I exm577860 6 130166919 [A/T] NM_001010876 TMEM244 EXON Missense_M38L exm577861 6 130166922 [T/C] NM_001010876 TMEM244 EXON Missense_V37M exm577864 6 130166999 [T/C] NM_001010876 TMEM244 Silent exm577868 6 130182304 [C/G] NM_001010876 TMEM244 EXON Missense_S10R exm-rs2876066 6 130322179 [A/C] exm-rs6569648 6 130349119 [T/C] NM_001007102,NM_032438 L3MBTL3,L3MBTL3 Silent,Silent exm-rs9388766 6 130354855 [T/C] NM_001007102,NM_032438 L3MBTL3,L3MBTL3 Silent,Silent exm-rs6899976 6 130358428 [A/G] NM_001007102,NM_032438 L3MBTL3,L3MBTL3 Silent,Silent exm577873 6 130370485 [A/G] NM_001007102,NM_032438 L3MBTL3,L3MBTL3 EXON Missense_N54S,Missense_N54S exm577877 6 130370916 [T/C] NM_001007102,NM_032438 L3MBTL3,L3MBTL3 EXON Silent,Missense_P77L exm2110799 6 130370960 [T/C] NM_001007102,NM_032438 L3MBTL3,L3MBTL3 EXON Silent,Missense_P92S exm2243147 6 130372517 [A/G] NM_001007102,NM_032438 L3MBTL3,L3MBTL3 EXON Missense_Y113C,Missense_Y138C exm577887 6 130374102 [A/C] NM_001007102,NM_032438 L3MBTL3,L3MBTL3 EXON Missense_T158N,Missense_T183N exm577896 6 130378623 [T/C] NM_001007102,NM_032438 L3MBTL3,L3MBTL3 EXON Missense_P222L,Missense_P247L exm577898 6 130378626 [T/C] NM_001007102,NM_032438 L3MBTL3,L3MBTL3 EXON Missense_A223V,Missense_A248V exm577911 6 130387630 [A/G] NM_001007102,NM_032438 L3MBTL3,L3MBTL3 EXON Missense_K308E,Missense_K333E exm577920 6 130392224 [A/G] NM_001007102,NM_032438 L3MBTL3,L3MBTL3 EXON Missense_N374S,Missense_N399S exm577925 6 130404846 [A/G] NM_001007102,NM_032438 L3MBTL3,L3MBTL3 EXON Missense_K443R,Missense_K468R exm577931 6 130415458 [T/C] NM_001007102,NM_032438 L3MBTL3,L3MBTL3 EXON Missense_P536L,Missense_P561L exm2243148 6 130415490 [A/G] NM_001007102,NM_032438 L3MBTL3,L3MBTL3 EXON Missense_A547T,Missense_A572T exm577939 6 130442032 [A/G] NM_001007102,NM_032438 L3MBTL3,L3MBTL3 EXON Missense_H607R,Missense_H632R exm577940 6 130442067 [A/C] NM_001007102,NM_032438 L3MBTL3,L3MBTL3 EXON Missense_T619P,Missense_T644P exm577943 6 130442104 [T/G] NM_001007102,NM_032438 L3MBTL3,L3MBTL3 Silent,Silent exm577946 6 130454603 [A/G] NM_001007102,NM_032438 L3MBTL3,L3MBTL3 EXON Missense_R633Q,Missense_R658Q exm577955 6 130460791 [A/G] NM_001007102,NM_032438 L3MBTL3,L3MBTL3 EXON Missense_T721A,Missense_T746A exm577966 6 130465847 [T/C] NM_001017373,NM_001258275 SAMD3,SAMD3 EXON Missense_D461N,Missense_D461N exm577967 6 130465850 [T/C] NM_001017373,NM_001258275 SAMD3,SAMD3 EXON Missense_D460N,Missense_D460N exm577970 6 130465901 [T/C] NM_001017373,NM_001258275 SAMD3,SAMD3 EXON Missense_E443K,Missense_E443K exm577979 6 130467238 [A/G] NM_001017373,NM_001258275 SAMD3,SAMD3 EXON Missense_T371I,Missense_T371I exm577986 6 130476007 [A/G] NM_001017373,NM_001258275 SAMD3,SAMD3 EXON Missense_I329T,Missense_I329T exm578000 6 130497101 [A/G] NM_001017373,NM_001258275 SAMD3,SAMD3 EXON Missense_I236T,Missense_I236T exm578007 6 130497146 [T/C] NM_001017373,NM_001258275 SAMD3,SAMD3 EXON Nonsense_W221X,Nonsense_W221X exm578009 6 130505247 [T/C] NM_001017373,NM_001258275 SAMD3,SAMD3 Silent,Silent exm578014 6 130505611 [T/C] NM_001017373,NM_001258275 SAMD3,SAMD3 EXON Missense_D181N,Missense_D181N exm578019 6 130505712 [T/C] NM_001017373,NM_001258275 SAMD3,SAMD3 EXON Missense_Y147C,Missense_Y147C exm578024 6 130530720 [A/C] NM_001017373,NM_001258275 SAMD3,SAMD3 EXON Missense_R101S,Missense_R101S exm578025 6 130530725 [A/C] NM_001017373,NM_001258275 SAMD3,SAMD3 EXON Missense_A100S,Missense_A100S exm578028 6 130535545 [T/C] NM_001017373,NM_001258275 SAMD3,SAMD3 EXON Missense_G69E,Missense_G69E exm578029 6 130535551 [A/G] NM_001017373,NM_001258275 SAMD3,SAMD3 EXON Missense_T67I,Missense_T67I exm578032 6 130535602 [A/G] NM_001017373,NM_001258275 SAMD3,SAMD3 EXON Missense_I50T,Missense_I50T exm578041 6 130536379 [T/C] NM_001017373,NM_001258275 SAMD3,SAMD3 EXON Missense_V14M,Missense_V14M exm578042 6 130536388 [T/G] NM_001017373,NM_001258275 SAMD3,SAMD3 EXON Missense_S11R,Missense_S11R exm2262044 6 130608255 [A/G] NM_001258275 SAMD3 Silent exm2257521 6 130665389 [T/C] NM_001258275 SAMD3 Silent exm578067 6 130762003 [A/G] NM_001258277,NM_001258276,NM_001258278,NM_052913 TMEM200A,TMEM200A,TMEM200A,TMEM200A EXON Missense_I146V,Missense_I146V,Missense_I146V,Missense_I146V exm578070 6 130762082 [T/C] NM_001258277,NM_001258276,NM_001258278,NM_052913 TMEM200A,TMEM200A,TMEM200A,TMEM200A EXON Missense_T172M,Missense_T172M,Missense_T172M,Missense_T172M exm578082 6 130762258 [T/C] NM_001258277,NM_001258276,NM_001258278,NM_052913 TMEM200A,TMEM200A,TMEM200A,TMEM200A EXON Missense_L231F,Missense_L231F,Missense_L231F,Missense_L231F exm578086 6 130762378 [A/G] NM_001258277,NM_001258276,NM_001258278,NM_052913 TMEM200A,TMEM200A,TMEM200A,TMEM200A EXON Missense_G271S,Missense_G271S,Missense_G271S,Missense_G271S exm578091 6 130762522 [T/A] NM_001258277,NM_001258276,NM_001258278,NM_052913 TMEM200A,TMEM200A,TMEM200A,TMEM200A EXON Missense_S319T,Missense_S319T,Missense_S319T,Missense_S319T exm578099 6 130762681 [T/C] NM_001258277,NM_001258276,NM_001258278,NM_052913 TMEM200A,TMEM200A,TMEM200A,TMEM200A EXON Missense_L372F,Missense_L372F,Missense_L372F,Missense_L372F exm578106 6 130762771 [T/C] NM_001258277,NM_001258276,NM_001258278,NM_052913 TMEM200A,TMEM200A,TMEM200A,TMEM200A EXON Missense_R402W,Missense_R402W,Missense_R402W,Missense_R402W exm578110 6 130762844 [A/G] NM_001258277,NM_001258276,NM_001258278,NM_052913 TMEM200A,TMEM200A,TMEM200A,TMEM200A EXON Missense_N426S,Missense_N426S,Missense_N426S,Missense_N426S exm578114 6 130762903 [T/C] NM_001258277,NM_001258276,NM_001258278,NM_052913 TMEM200A,TMEM200A,TMEM200A,TMEM200A EXON Missense_P446S,Missense_P446S,Missense_P446S,Missense_P446S exm2243154 6 130762915 [T/A] NM_001258277,NM_001258276,NM_001258278,NM_052913 TMEM200A,TMEM200A,TMEM200A,TMEM200A EXON Missense_I450F,Missense_I450F,Missense_I450F,Missense_I450F exm578116 6 130762916 [A/T] NM_001258277,NM_001258276,NM_001258278,NM_052913 TMEM200A,TMEM200A,TMEM200A,TMEM200A EXON Missense_I450N,Missense_I450N,Missense_I450N,Missense_I450N exm2266255 6 130936249 [A/G] exm578123 6 131148737 [A/G] NM_001195597 SMLR1 EXON Missense_V62M exm578127 6 131179302 [G/C] NM_001431,NM_001135554,NM_001135555,NM_001199388,NM_001252660,NM_001199389 EPB41L2,EPB41L2,EPB41L2,EPB41L2,EPB41L2,EPB41L2 EXON Missense_E998Q,Missense_E666Q,Missense_E666Q,Missense_E845Q,Missense_E740Q,Missense_E845Q exm578133 6 131186708 [A/C] NM_001431,NM_001135554,NM_001135555,NM_001199388,NM_001252660,NM_001199389 EPB41L2,EPB41L2,EPB41L2,EPB41L2,EPB41L2,EPB41L2 EXON Missense_V933L,Silent,Silent,Missense_V780L,Missense_V675L,Missense_V780L exm578148 6 131190746 [T/C] NM_001431,NM_001135554,NM_001135555,NM_001199388,NM_001252660,NM_001199389 EPB41L2,EPB41L2,EPB41L2,EPB41L2,EPB41L2,EPB41L2 EXON Missense_H855R,Silent,Silent,Silent,Silent,Silent exm2257523 6 131190760 [A/G] NM_001431,NM_001135554,NM_001135555,NM_001199388,NM_001252660,NM_001199389 EPB41L2,EPB41L2,EPB41L2,EPB41L2,EPB41L2,EPB41L2 EXON Synonymous_N850N,Silent,Silent,Silent,Silent,Silent exm578153 6 131190833 [T/C] NM_001431,NM_001135554,NM_001135555,NM_001199388,NM_001252660,NM_001199389 EPB41L2,EPB41L2,EPB41L2,EPB41L2,EPB41L2,EPB41L2 EXON Missense_E826G,Silent,Silent,Silent,Silent,Silent exm578157 6 131190924 [T/C] NM_001431,NM_001135554,NM_001135555,NM_001199388,NM_001252660,NM_001199389 EPB41L2,EPB41L2,EPB41L2,EPB41L2,EPB41L2,EPB41L2 EXON Missense_E796K,Silent,Silent,Silent,Silent,Silent exm578167 6 131191139 [T/C] NM_001431,NM_001135554,NM_001135555,NM_001199388,NM_001252660,NM_001199389 EPB41L2,EPB41L2,EPB41L2,EPB41L2,EPB41L2,EPB41L2 EXON Missense_R724H,Silent,Silent,Missense_R654H,Silent,Missense_R654H exm578168 6 131191149 [T/C] NM_001431,NM_001135554,NM_001135555,NM_001199388,NM_001252660,NM_001199389 EPB41L2,EPB41L2,EPB41L2,EPB41L2,EPB41L2,EPB41L2 EXON Missense_G721R,Silent,Silent,Missense_G651R,Silent,Missense_G651R exm578190 6 131206292 [T/C] NM_001431,NM_001135554,NM_001135555,NM_001199388,NM_001252660,NM_001199389 EPB41L2,EPB41L2,EPB41L2,EPB41L2,EPB41L2,EPB41L2 EXON Missense_R593G,Missense_R593G,Missense_R593G,Missense_R593G,Missense_R593G,Missense_R593G exm578191 6 131206343 [T/C] NM_001431,NM_001135554,NM_001135555,NM_001199388,NM_001252660,NM_001199389 EPB41L2,EPB41L2,EPB41L2,EPB41L2,EPB41L2,EPB41L2 EXON Missense_A576T,Missense_A576T,Missense_A576T,Missense_A576T,Missense_A576T,Missense_A576T exm578192 6 131206394 [T/C] NM_001431,NM_001135554,NM_001135555,NM_001199388,NM_001252660,NM_001199389 EPB41L2,EPB41L2,EPB41L2,EPB41L2,EPB41L2,EPB41L2 EXON Missense_M559V,Missense_M559V,Missense_M559V,Missense_M559V,Missense_M559V,Missense_M559V exm578194 6 131206405 [A/G] NM_001431,NM_001135554,NM_001135555,NM_001199388,NM_001252660,NM_001199389 EPB41L2,EPB41L2,EPB41L2,EPB41L2,EPB41L2,EPB41L2 EXON Missense_P555L,Missense_P555L,Missense_P555L,Missense_P555L,Missense_P555L,Missense_P555L exm2110930 6 131211602 [A/C] NM_001431,NM_001135554,NM_001135555,NM_001199388,NM_001252660,NM_001199389 EPB41L2,EPB41L2,EPB41L2,EPB41L2,EPB41L2,EPB41L2 EXON Missense_V498F,Missense_V498F,Missense_V498F,Missense_V498F,Missense_V498F,Missense_V498F exm578219 6 131220689 [T/C] NM_001431,NM_001135554,NM_001135555,NM_001199388,NM_001252660,NM_001199389 EPB41L2,EPB41L2,EPB41L2,EPB41L2,EPB41L2,EPB41L2 EXON Missense_Q393R,Missense_Q393R,Missense_Q393R,Missense_Q393R,Missense_Q393R,Missense_Q393R exm578224 6 131222201 [A/G] NM_001431,NM_001135554,NM_001135555,NM_001199388,NM_001252660,NM_001199389 EPB41L2,EPB41L2,EPB41L2,EPB41L2,EPB41L2,EPB41L2 EXON Missense_P350L,Missense_P350L,Missense_P350L,Missense_P350L,Missense_P350L,Missense_P350L exm578226 6 131222232 [T/C] NM_001431,NM_001135554,NM_001135555,NM_001199388,NM_001252660,NM_001199389 EPB41L2,EPB41L2,EPB41L2,EPB41L2,EPB41L2,EPB41L2 EXON Missense_T340A,Missense_T340A,Missense_T340A,Missense_T340A,Missense_T340A,Missense_T340A exm578237 6 131276339 [A/G] NM_001431,NM_001135554,NM_001135555,NM_001199388,NM_001252660,NM_001199389 EPB41L2,EPB41L2,EPB41L2,EPB41L2,EPB41L2,EPB41L2 EXON Missense_A204V,Missense_A204V,Missense_A204V,Missense_A204V,Missense_A204V,Missense_A204V exm578239 6 131276437 [A/C] NM_001431,NM_001135554,NM_001135555,NM_001199388,NM_001252660,NM_001199389 EPB41L2,EPB41L2,EPB41L2,EPB41L2,EPB41L2,EPB41L2 EXON Missense_K171N,Missense_K171N,Missense_K171N,Missense_K171N,Missense_K171N,Missense_K171N exm578248 6 131277274 [C/G] NM_001431,NM_001135554,NM_001135555,NM_001199388,NM_001252660,NM_001199389 EPB41L2,EPB41L2,EPB41L2,EPB41L2,EPB41L2,EPB41L2 EXON Missense_L118V,Missense_L118V,Missense_L118V,Missense_L118V,Missense_L118V,Missense_L118V exm578257 6 131277349 [T/C] NM_001431,NM_001135554,NM_001135555,NM_001199388,NM_001252660,NM_001199389 EPB41L2,EPB41L2,EPB41L2,EPB41L2,EPB41L2,EPB41L2 EXON Missense_A93T,Missense_A93T,Missense_A93T,Missense_A93T,Missense_A93T,Missense_A93T exm578259 6 131277417 [T/G] NM_001431,NM_001135554,NM_001135555,NM_001199388,NM_001252660,NM_001199389 EPB41L2,EPB41L2,EPB41L2,EPB41L2,EPB41L2,EPB41L2 EXON Missense_E70A,Missense_E70A,Missense_E70A,Missense_E70A,Missense_E70A,Missense_E70A exm2257524 6 131277455 [A/G] NM_001431,NM_001135554,NM_001135555,NM_001199388,NM_001252660,NM_001199389 EPB41L2,EPB41L2,EPB41L2,EPB41L2,EPB41L2,EPB41L2 EXON Synonymous_S57S,Synonymous_S57S,Synonymous_S57S,Synonymous_S57S,Synonymous_S57S,Synonymous_S57S exm2274183 6 131277575 [A/C] NM_001431,NM_001135554,NM_001135555,NM_001199388,NM_001252660,NM_001199389 EPB41L2,EPB41L2,EPB41L2,EPB41L2,EPB41L2,EPB41L2 EXON Missense_Q17H,Missense_Q17H,Missense_Q17H,Missense_Q17H,Missense_Q17H,Missense_Q17H exm2110947 6 131277586 [T/C] NM_001431,NM_001135554,NM_001135555,NM_001199388,NM_001252660,NM_001199389 EPB41L2,EPB41L2,EPB41L2,EPB41L2,EPB41L2,EPB41L2 EXON Missense_D14N,Missense_D14N,Missense_D14N,Missense_D14N,Missense_D14N,Missense_D14N exm578282 6 131466537 [T/G] NM_016377 AKAP7 EXON Missense_D44E exm578284 6 131481216 [A/G] NM_016377 AKAP7 EXON Missense_I57V exm578288 6 131481307 [A/G] NM_016377 AKAP7 EXON Missense_Y87C exm578291 6 131486272 [T/C] NM_016377 AKAP7 EXON Nonsense_R115X exm578293 6 131486330 [A/G] NM_016377 AKAP7 EXON Missense_Q134R exm578294 6 131486337 [A/C] NM_016377 AKAP7 EXON Missense_L136F exm578298 6 131490263 [T/G] NM_016377 AKAP7 EXON Missense_A147S exm578299 6 131490312 [A/G] NM_016377 AKAP7 EXON Missense_H163R exm578300 6 131490324 [T/C] NM_016377 AKAP7 EXON Missense_P167L exm578304 6 131490396 [T/C] NM_016377 AKAP7 EXON Missense_S191L exm2270405 6 131505531 [T/C] NM_016377 AKAP7 Silent exm578307 6 131520642 [C/G] NM_016377 AKAP7 EXON Missense_G211R exm578308 6 131520655 [A/G] NM_016377 AKAP7 EXON Missense_S215N exm578309 6 131520691 [A/G] NM_016377 AKAP7 EXON Missense_K227R exm578319 6 131540948 [A/G] NM_016377 AKAP7 EXON Missense_G284S exm578328 6 131574192 [T/C] NM_016377,NM_138633,NM_004842 AKAP7,AKAP7,AKAP7 EXON Silent,Missense_S22L,Silent exm2274184 6 131574195 [T/C] NM_016377,NM_138633,NM_004842 AKAP7,AKAP7,AKAP7 EXON Silent,Missense_S23F,Silent exm578337 6 131602798 [A/G] NM_016377,NM_138633,NM_004842 AKAP7,AKAP7,AKAP7 EXON Missense_E327K,Missense_E83K,Missense_E60K exm578340 6 131602819 [A/G] NM_016377,NM_138633,NM_004842 AKAP7,AKAP7,AKAP7 EXON Missense_E334K,Missense_E90K,Missense_E67K exm2262045 6 131761677 [T/C] exm-rs2807278 6 131809920 [T/C] exm578352 6 131894479 [A/G] NM_000045,NM_001244438 ARG1,ARG1 EXON Synonymous_Q19Q,Synonymous_Q19Q exm578355 6 131897807 [A/G] NM_000045,NM_001244438,NM_015979,NM_001270521 ARG1,ARG1,MED23,MED23 EXON Missense_R21Q,Missense_R21Q,Silent,Silent exm2110993 6 131904574 [G/C] NM_000045,NM_001244438,NM_015979,NM_001270521 ARG1,ARG1,MED23,MED23 EXON Missense_V249L,Missense_V257L,Silent,Silent exm578377 6 131904627 [A/C] NM_000045,NM_001244438,NM_015979,NM_001270521 ARG1,ARG1,MED23,MED23 EXON Missense_K266N,Missense_K274N,Silent,Silent exm578383 6 131905023 [T/C] NM_000045,NM_001244438,NM_015979,NM_001270521 ARG1,ARG1,MED23,MED23 EXON Missense_I315T,Missense_I323T,Silent,Silent exm578384 6 131905032 [T/C] NM_000045,NM_001244438,NM_015979,NM_001270521 ARG1,ARG1,MED23,MED23 EXON Missense_L318P,Missense_L326P,Silent,Silent exm578393 6 131908943 [T/C] NM_015979,NM_001270521,NM_004830,NM_001270522 MED23,MED23,MED23,MED23 EXON Missense_R1334H,Missense_R1328H,Missense_R1328H,Missense_R1328H exm578395 6 131910684 [T/C] NM_015979,NM_001270521,NM_004830,NM_001270522 MED23,MED23,MED23,MED23 EXON Missense_H1293R,Missense_H1287R,Missense_H1287R,Missense_H1287R exm578396 6 131910690 [G/C] NM_015979,NM_001270521,NM_004830,NM_001270522 MED23,MED23,MED23,MED23 EXON Missense_S1291T,Missense_S1285T,Missense_S1285T,Missense_S1285T exm578399 6 131911527 [T/C] NM_015979,NM_001270521,NM_004830,NM_001270522 MED23,MED23,MED23,MED23 EXON Missense_V1254I,Missense_V1248I,Missense_V1248I,Missense_V1248I exm578405 6 131912565 [T/C] NM_015979,NM_001270521,NM_004830,NM_001270522 MED23,MED23,MED23,MED23 EXON Missense_D1198N,Missense_D1192N,Missense_D1192N,Missense_D1192N exm578445 6 131923391 [T/C] NM_015979,NM_001270521,NM_004830,NM_001270522 MED23,MED23,MED23,MED23 EXON Missense_I694V,Missense_I688V,Missense_I688V,Missense_I688V exm578483 6 131943064 [G/C] NM_015979,NM_001270521,NM_004830,NM_001270522 MED23,MED23,MED23,MED23 EXON Missense_T151R,Missense_T151R,Missense_T151R,Missense_T151R exm578485 6 131944519 [T/C] NM_015979,NM_001270521,NM_004830,NM_001270522 MED23,MED23,MED23,MED23 EXON Missense_R123Q,Missense_R123Q,Missense_R123Q,Missense_R123Q exm578489 6 131944597 [A/C] NM_015979,NM_001270521,NM_004830,NM_001270522 MED23,MED23,MED23,MED23 EXON Missense_V97G,Missense_V97G,Missense_V97G,Missense_V97G exm578517 6 131962602 [T/C] NM_005021 ENPP3 EXON Missense_L29P exm578520 6 131962632 [T/G] NM_005021 ENPP3 EXON Nonsense_L39X exm578521 6 131962646 [A/G] NM_005021 ENPP3 EXON Missense_G44R exm578526 6 131971244 [T/C] NM_005021 ENPP3 EXON Nonsense_R78X exm578527 6 131971260 [A/G] NM_005021 ENPP3 EXON Nonsense_W83X exm578529 6 131973685 [A/G] NM_005021 ENPP3 EXON Missense_R94Q exm578530 6 131973691 [A/G] NM_005021 ENPP3 EXON Nonsense_W96X exm578531 6 131973700 [A/G] NM_005021 ENPP3 EXON Missense_N99S exm578534 6 131973721 [A/C] NM_005021 ENPP3 EXON Missense_T106N exm578536 6 131973806 [A/G] NM_005021 ENPP3 EXON Synonymous_Q134Q exm578540 6 131974025 [T/C] NM_005021 ENPP3 EXON Missense_P153L exm578549 6 131995412 [A/T] NM_005021 ENPP3 EXON Missense_H251Q exm578581 6 132006558 [A/G] NM_005021 ENPP3 EXON Missense_R392K exm578583 6 132006581 [A/G] NM_005021 ENPP3 EXON Missense_E400K exm578584 6 132006588 [T/C] NM_005021 ENPP3 EXON Missense_P402L exm2270522 6 132012886 [T/G] NM_005021 ENPP3 Silent exm578640 6 132041483 [A/C] NM_005021 ENPP3 EXON Missense_P511T exm578642 6 132041498 [C/G] NM_005021 ENPP3 EXON Missense_E516Q exm578647 6 132043442 [A/G] NM_005021 ENPP3 EXON Missense_Y548C exm578650 6 132045180 [A/G] NM_005021 ENPP3 EXON Missense_S583G exm578656 6 132047245 [A/G] NM_005021 ENPP3 EXON Missense_V620M exm2111134 6 132054738 [T/C] NM_005021 ENPP3 EXON Missense_S655L exm578672 6 132058568 [C/G] NM_005021 ENPP3 EXON Missense_F721L exm578673 6 132058572 [A/G] NM_005021 ENPP3 EXON Missense_K723E exm578678 6 132059233 [A/C] NM_005021 ENPP3 EXON Missense_N744H exm578685 6 132061420 [A/G] NM_005021 ENPP3 EXON Missense_S786N exm578686 6 132061444 [T/C] NM_005021 ENPP3 EXON Missense_P794L exm578695 6 132067987 [A/G] NM_005021 ENPP3 EXON Missense_R840H exm578699 6 132068040 [A/G] NM_005021 ENPP3 EXON Missense_V858I exm2270406 6 132163617 [T/C] NM_006208 ENPP1 Silent exm578718 6 132172368 [A/C] NM_006208 ENPP1 EXON Missense_K173Q exm578719 6 132172374 [A/G] NM_006208 ENPP1 EXON Missense_D175N exm2243169 6 132172387 [A/G] NM_006208 ENPP1 EXON Missense_N179S exm2274185 6 132181533 [T/C] NM_006208 ENPP1 EXON Missense_Y268H exm578733 6 132181591 [T/C] NM_006208 ENPP1 EXON Missense_S287F exm578753 6 132190629 [T/C] NM_006208 ENPP1 EXON Missense_F469L exm578756 6 132193216 [A/G] NM_006208 ENPP1 EXON Missense_Y471C exm578767 6 132198143 [T/G] NM_006208 ENPP1 EXON Missense_L579V exm578771 6 132198206 [T/C] NM_006208 ENPP1 EXON Missense_Y600H exm578774 6 132198239 [G/C] NM_006208 ENPP1 EXON Missense_L611V exm578781 6 132201076 [A/G] NM_006208 ENPP1 EXON Missense_E668K exm578782 6 132201106 [T/C] NM_006208 ENPP1 EXON Nonsense_Q678X exm578787 6 132203508 [A/C] NM_006208 ENPP1 EXON Missense_F708L exm578792 6 132204839 [A/C] NM_006208 ENPP1 EXON Missense_N746H exm578795 6 132206079 [T/C] NM_006208 ENPP1 EXON Missense_R774C exm578796 6 132206089 [A/G] NM_006208 ENPP1 EXON Missense_H777R exm578797 6 132206094 [A/C] NM_006208 ENPP1 EXON Missense_T779P exm578798 6 132206095 [A/C] NM_006208 ENPP1 EXON Missense_T779N exm578800 6 132206139 [A/G] NM_006208 ENPP1 EXON Missense_V794I exm578808 6 132211497 [T/C] NM_006208 ENPP1 EXON Missense_S875F exm578811 6 132211530 [C/G] NM_006208 ENPP1 EXON Missense_R886T exm578821 6 132270522 [T/C] NM_001901 CTGF EXON Missense_E311G exm578828 6 132270689 [A/C] NM_001901 CTGF EXON Missense_K255N exm578831 6 132271197 [T/C] NM_001901 CTGF EXON Missense_M215I exm2274186 6 132271220 [T/C] NM_001901 CTGF EXON Missense_A208T exm578846 6 132271620 [T/C] NM_001901 CTGF EXON Missense_S118N exm578857 6 132271952 [C/G] NM_001901 CTGF EXON Missense_H83D exm578876 6 132618991 [T/C] NM_015529 MOXD1 EXON Missense_N538D exm578878 6 132636774 [A/G] NM_015529 MOXD1 EXON Missense_T503M exm578879 6 132636799 [A/C] NM_015529 MOXD1 EXON Missense_V495F exm578881 6 132636820 [C/G] NM_015529 MOXD1 EXON Missense_E488Q exm578883 6 132636849 [A/G] NM_015529 MOXD1 EXON Missense_T478I exm578895 6 132643915 [T/C] NM_015529 MOXD1 EXON Missense_R403Q exm578909 6 132649152 [A/C] NM_015529 MOXD1 EXON Missense_G316C exm578910 6 132649175 [T/A] NM_015529 MOXD1 EXON Missense_Y308F exm578917 6 132649565 [T/C] NM_015529 MOXD1 EXON Missense_I278V exm578921 6 132649631 [T/C] NM_015529 MOXD1 EXON Missense_E256K exm2111234 6 132649650 [A/G] NM_015529 MOXD1 EXON Synonymous_S249S exm2277304 6 132649656 [A/G] NM_015529 MOXD1 EXON Synonymous_N247N exm2111247 6 132695777 [A/C] NM_015529 MOXD1 EXON Missense_S135I exm2270407 6 132728085 [T/G] exm578978 6 132791158 [A/C] NM_003569 STX7 EXON Missense_D157Y exm578979 6 132791170 [A/C] NM_003569 STX7 EXON Missense_V153L exm2243175 6 132824636 [T/C] NM_003569 STX7 EXON Missense_A12T exm579001 6 132859609 [T/A] NM_175057 TAAR9 EXON Missense_X61K exm579003 6 132859628 [G/C] NM_175057 TAAR9 EXON Missense_T67R exm579010 6 132859726 [T/C] NM_175057 TAAR9 EXON Missense_F100L exm579015 6 132859898 [A/G] NM_175057 TAAR9 EXON Nonsense_W157X exm579019 6 132859994 [T/G] NM_175057 TAAR9 EXON Missense_G189V exm579028 6 132860162 [A/T] NM_175057 TAAR9 EXON Missense_Y245F exm579029 6 132860164 [A/C] NM_175057 TAAR9 EXON Missense_K246Q exm579035 6 132860360 [A/G] NM_175057 TAAR9 EXON Missense_Y311C exm579039 6 132860432 [T/C] NM_175057 TAAR9 EXON Missense_S335L exm579043 6 132873863 [A/G] NM_053278 TAAR8 EXON Missense_Q11R exm579046 6 132873938 [T/C] NM_053278 TAAR8 EXON Missense_T36M exm579048 6 132873941 [T/C] NM_053278 TAAR8 EXON Missense_A37V exm579055 6 132874106 [T/C] NM_053278 TAAR8 EXON Missense_T92M exm579058 6 132874264 [A/G] NM_053278 TAAR8 EXON Missense_V145M exm579060 6 132874277 [T/G] NM_053278 TAAR8 EXON Missense_G149V exm2111288 6 132874321 [A/G] NM_053278 TAAR8 EXON Missense_G164S exm579069 6 132874406 [T/C] NM_053278 TAAR8 EXON Missense_I192T exm579074 6 132874526 [C/G] NM_053278 TAAR8 EXON Missense_T232S exm579083 6 132874814 [A/C] NM_053278 TAAR8 EXON Missense_D328A exm579084 6 132874859 [A/G] NM_053278 TAAR8 EXON Synonymous_X343X exm579089 6 132891501 [A/G] NM_175067 TAAR6 EXON Missense_C14Y exm579096 6 132891570 [T/C] NM_175067 TAAR6 EXON Missense_I37T exm579098 6 132891622 [A/G] NM_175067 TAAR6 EXON Missense_M54I exm579103 6 132891666 [T/C] NM_175067 TAAR6 EXON Missense_F69S exm579105 6 132891675 [T/C] NM_175067 TAAR6 EXON Missense_A72V exm579107 6 132891725 [A/T] NM_175067 TAAR6 EXON Missense_S89C exm579110 6 132891756 [A/G] NM_175067 TAAR6 EXON Missense_Y99C exm579119 6 132891953 [A/G] NM_175067 TAAR6 EXON Missense_G165S exm579121 6 132891977 [T/C] NM_175067 TAAR6 EXON Missense_Y173H exm579122 6 132891978 [A/G] NM_175067 TAAR6 EXON Missense_Y173C exm579124 6 132892017 [A/G] NM_175067 TAAR6 EXON Missense_C186Y exm579127 6 132892037 [A/G] NM_175067 TAAR6 EXON Missense_V193I exm579132 6 132892143 [T/C] NM_175067 TAAR6 EXON Missense_A228V exm579133 6 132892152 [T/C] NM_175067 TAAR6 EXON Missense_I231T exm579136 6 132892200 [A/C] NM_175067 TAAR6 EXON Missense_A247D exm579138 6 132892253 [A/G] NM_175067 TAAR6 EXON Missense_V265I exm579140 6 132892332 [A/G] NM_175067 TAAR6 EXON Missense_C291Y exm579145 6 132892436 [A/G] NM_175067 TAAR6 EXON Missense_V326I exm579150 6 132909837 [T/C] NM_003967 TAAR5 EXON Missense_R330H exm579151 6 132909838 [A/G] NM_003967 TAAR5 EXON Missense_R330C exm2243178 6 132909865 [T/A] NM_003967 TAAR5 EXON Missense_S321C exm579152 6 132909888 [T/C] NM_003967 TAAR5 EXON Missense_R313Q exm579156 6 132910011 [A/G] NM_003967 TAAR5 EXON Missense_T272M exm579167 6 132910243 [T/G] NM_003967 TAAR5 EXON Missense_L195M exm579168 6 132910249 [A/G] NM_003967 TAAR5 EXON Nonsense_Q193X exm2111318 6 132910268 [A/C] NM_003967 TAAR5 EXON Missense_M186I exm579175 6 132910357 [A/C] NM_003967 TAAR5 EXON Missense_A157S exm579179 6 132910432 [A/G] NM_003967 TAAR5 EXON Missense_R132C exm579181 6 132910449 [A/C] NM_003967 TAAR5 EXON Missense_C126F exm579185 6 132910485 [A/T] NM_003967 TAAR5 EXON Missense_D114V exm579188 6 132910543 [A/G] NM_003967 TAAR5 EXON Missense_S95P exm579189 6 132910545 [T/C] NM_003967 TAAR5 EXON Missense_R94H exm579192 6 132910567 [C/G] NM_003967 TAAR5 EXON Missense_V87L exm579198 6 132910665 [A/G] NM_003967 TAAR5 EXON Missense_F54S exm579200 6 132910707 [T/G] NM_003967 TAAR5 EXON Missense_A40D exm579202 6 132910710 [A/G] NM_003967 TAAR5 EXON Missense_L39P exm579213 6 132938345 [T/C] NM_001033080,NM_014626 TAAR2,TAAR2 EXON Missense_I334V,Missense_I289V exm2257529 6 132938349 [A/G] NM_001033080,NM_014626 TAAR2,TAAR2 EXON Synonymous_G332G,Synonymous_G287G exm579215 6 132938401 [T/C] NM_001033080,NM_014626 TAAR2,TAAR2 EXON Missense_Y315C,Missense_Y270C exm579223 6 132938606 [A/G] NM_001033080,NM_014626 TAAR2,TAAR2 EXON Nonsense_R247X,Nonsense_R202X exm579230 6 132938794 [T/C] NM_001033080,NM_014626 TAAR2,TAAR2 EXON Missense_Y184C,Missense_Y139C exm579231 6 132938812 [A/T] NM_001033080,NM_014626 TAAR2,TAAR2 EXON Missense_V178E,Missense_V133E exm2257530 6 132938817 [A/G] NM_001033080,NM_014626 TAAR2,TAAR2 EXON Synonymous_F176F,Synonymous_F131F exm579238 6 132938842 [T/C] NM_001033080,NM_014626 TAAR2,TAAR2 EXON Nonsense_W168X,Nonsense_W123X exm579239 6 132938872 [A/G] NM_001033080,NM_014626 TAAR2,TAAR2 EXON Missense_P158L,Missense_P113L exm579242 6 132938938 [A/G] NM_001033080,NM_014626 TAAR2,TAAR2 EXON Missense_S136L,Missense_S91L exm579243 6 132938956 [A/G] NM_001033080,NM_014626 TAAR2,TAAR2 EXON Missense_S130F,Missense_S85F exm579255 6 132939212 [T/C] NM_001033080,NM_014626 TAAR2,TAAR2 EXON Missense_A45T,Silent exm579256 6 132939217 [T/C] NM_001033080,NM_014626 TAAR2,TAAR2 EXON Missense_R43Q,Silent exm579257 6 132939218 [A/G] NM_001033080,NM_014626 TAAR2,TAAR2 EXON Nonsense_R43X,Silent exm579263 6 132945355 [A/C] NM_001033080 TAAR2 EXON Missense_K20N exm2111342 6 132966243 [T/A] NM_138327 TAAR1 EXON Missense_N300K exm579272 6 132966270 [T/C] NM_138327 TAAR1 EXON Nonsense_W291X exm579280 6 132966389 [T/C] NM_138327 TAAR1 EXON Missense_T252A exm579293 6 132966601 [A/C] NM_138327 TAAR1 EXON Missense_G181V exm579294 6 132966626 [A/G] NM_138327 TAAR1 EXON Missense_Y173H exm579306 6 132966782 [A/G] NM_138327 TAAR1 EXON Missense_R121C exm579313 6 132966997 [A/G] NM_138327 TAAR1 EXON Missense_S49L exm579320 6 132967075 [T/C] NM_138327 TAAR1 EXON Missense_R23H exm579321 6 132967076 [A/G] NM_138327 TAAR1 EXON Missense_R23C exm579322 6 132967091 [A/C] NM_138327 TAAR1 EXON Missense_W18G exm579323 6 133004281 [A/G] NM_004666 VNN1 EXON Missense_X514Q exm579337 6 133005539 [T/C] NM_004666 VNN1 EXON Missense_G432R exm579343 6 133005619 [A/G] NM_004666 VNN1 EXON Missense_T405M exm579347 6 133013432 [A/G] NM_004666 VNN1 EXON Missense_I373T exm579348 6 133013433 [T/C] NM_004666 VNN1 EXON Missense_I373V exm579353 6 133013544 [T/C] NM_004666 VNN1 EXON Missense_T336A exm579355 6 133013570 [T/G] NM_004666 VNN1 EXON Nonsense_S327X exm579356 6 133013576 [T/G] NM_004666 VNN1 EXON Missense_A325E exm579359 6 133013662 [G/C] NM_004666 VNN1 EXON Missense_E296D exm2274187 6 133014219 [T/C] NM_004666 VNN1 EXON Missense_G257D exm579366 6 133014231 [A/G] NM_004666 VNN1 EXON Missense_A253V exm2257531 6 133014991 [A/G] NM_004666 VNN1 Silent exm579380 6 133015143 [A/C] NM_004666 VNN1 EXON Missense_A174S exm579382 6 133015188 [C/G] NM_004666 VNN1 EXON Missense_Q159E exm579383 6 133015193 [T/C] NM_004666 VNN1 EXON Missense_R157H exm579385 6 133015227 [T/C] NM_004666 VNN1 EXON Missense_D146N exm579387 6 133015247 [A/G] NM_004666 VNN1 EXON Missense_I139T exm579398 6 133032854 [T/C] NM_004666 VNN1 EXON Missense_R112H exm579399 6 133032882 [T/C] NM_004666 VNN1 EXON Missense_E103K exm579405 6 133032974 [A/G] NM_004666 VNN1 EXON Missense_A72V exm579406 6 133034987 [A/G] NM_004666 VNN1 EXON Missense_A63V exm2111367 6 133035012 [A/G] NM_004666 VNN1 EXON Missense_R55W exm579412 6 133035098 [A/G] NM_004666 VNN1 EXON Missense_T26I exm579499 6 133070928 [A/C] NR_034173,NM_078488,NM_001242350,NM_004665,NR_034174 VNN2,VNN2,VNN2,VNN2,VNN2 EXON Silent,Missense_F373C,Missense_F205C,Missense_F426C,Silent exm579504 6 133070995 [T/G] NR_034173,NM_078488,NM_001242350,NM_004665,NR_034174 VNN2,VNN2,VNN2,VNN2,VNN2 EXON Silent,Missense_L351M,Missense_L183M,Missense_L404M,Silent exm579506 6 133072306 [T/C] NR_034173,NM_078488,NM_001242350,NM_004665,NR_034174 VNN2,VNN2,VNN2,VNN2,VNN2 EXON Silent,Missense_R340Q,Silent,Missense_R393Q,Silent exm579507 6 133072307 [A/G] NR_034173,NM_078488,NM_001242350,NM_004665,NR_034174 VNN2,VNN2,VNN2,VNN2,VNN2 EXON Silent,Nonsense_R340X,Silent,Nonsense_R393X,Silent exm579509 6 133072319 [T/C] NR_034173,NM_078488,NM_001242350,NM_004665,NR_034174 VNN2,VNN2,VNN2,VNN2,VNN2 EXON Silent,Missense_G336R,Silent,Missense_G389R,Silent exm579513 6 133072439 [T/A] NR_034173,NM_078488,NM_001242350,NM_004665,NR_034174 VNN2,VNN2,VNN2,VNN2,VNN2 EXON Silent,Missense_T296S,Silent,Missense_T349S,Silent exm579515 6 133072524 [T/C] NR_034173,NM_078488,NM_001242350,NM_004665,NR_034174 VNN2,VNN2,VNN2,VNN2,VNN2 EXON Silent,Nonsense_W267X,Silent,Nonsense_W320X,Silent exm579520 6 133072571 [T/C] NR_034173,NM_078488,NM_001242350,NM_004665,NR_034174 VNN2,VNN2,VNN2,VNN2,VNN2 EXON Silent,Missense_D252N,Silent,Missense_D305N,Silent exm579525 6 133073705 [T/C] NR_034173,NM_078488,NM_001242350,NM_004665,NR_034174 VNN2,VNN2,VNN2,VNN2,VNN2 EXON Silent,Missense_V188I,Silent,Missense_V241I,Silent exm579529 6 133073797 [A/G] NR_034173,NM_078488,NM_001242350,NM_004665,NR_034174 VNN2,VNN2,VNN2,VNN2,VNN2 EXON Silent,Missense_T157M,Silent,Missense_T210M,Silent exm579530 6 133073811 [A/C] NR_034173,NM_078488,NM_001242350,NM_004665,NR_034174 VNN2,VNN2,VNN2,VNN2,VNN2 EXON Silent,Missense_R152S,Silent,Missense_R205S,Silent exm579535 6 133076999 [T/C] NR_034173,NM_078488,NM_001242350,NM_004665,NR_034174 VNN2,VNN2,VNN2,VNN2,VNN2 EXON Silent,Missense_V121M,Missense_V174M,Missense_V174M,Silent exm579547 6 133078573 [A/G] NR_034173,NM_078488,NM_001242350,NM_004665,NR_034174 VNN2,VNN2,VNN2,VNN2,VNN2 EXON Silent,Missense_P56L,Missense_P109L,Missense_P109L,Silent exm579550 6 133078633 [A/G] NR_034173,NM_078488,NM_001242350,NM_004665,NR_034174 VNN2,VNN2,VNN2,VNN2,VNN2 EXON Silent,Missense_T36I,Missense_T89I,Missense_T89I,Silent exm579552 6 133078865 [A/G] NR_034173,NM_078488,NM_001242350,NM_004665,NR_034174 VNN2,VNN2,VNN2,VNN2,VNN2 EXON Silent,Silent,Missense_L53P,Missense_L53P,Silent exm579553 6 133078866 [G/C] NR_034173,NM_078488,NM_001242350,NM_004665,NR_034174 VNN2,VNN2,VNN2,VNN2,VNN2 EXON Silent,Silent,Missense_L53V,Missense_L53V,Silent exm579554 6 133078886 [A/G] NR_034173,NM_078488,NM_001242350,NM_004665,NR_034174 VNN2,VNN2,VNN2,VNN2,VNN2 EXON Silent,Silent,Missense_S46F,Missense_S46F,Silent exm579558 6 133078964 [A/G] NR_034173,NM_078488,NM_001242350,NM_004665,NR_034174 VNN2,VNN2,VNN2,VNN2,VNN2 EXON Silent,Silent,Missense_V20A,Missense_V20A,Silent exm579559 6 133078973 [T/G] NR_034173,NM_078488,NM_001242350,NM_004665,NR_034174 VNN2,VNN2,VNN2,VNN2,VNN2 EXON Silent,Silent,Missense_T17N,Missense_T17N,Silent exm579564 6 133091438 [A/G] NM_052831 SLC18B1 EXON Nonsense_R448X exm579565 6 133091458 [T/A] NM_052831 SLC18B1 EXON Missense_I441N exm579568 6 133092072 [T/C] NM_052831 SLC18B1 EXON Missense_A421T exm579571 6 133092199 [T/C] NM_052831 SLC18B1 EXON Missense_I410M exm579572 6 133092221 [T/C] NM_052831 SLC18B1 EXON Missense_G403D exm579573 6 133092234 [A/G] NM_052831 SLC18B1 EXON Missense_Y399H exm579576 6 133093289 [T/C] NM_052831 SLC18B1 EXON Missense_S381N exm579588 6 133097543 [A/C] NM_052831 SLC18B1 EXON Missense_G274V exm579594 6 133100483 [A/G] NM_052831 SLC18B1 EXON Missense_I240T exm579597 6 133100534 [A/G] NM_052831 SLC18B1 EXON Missense_P223L exm579598 6 133105072 [T/C] NM_052831 SLC18B1 EXON Missense_E220K exm579599 6 133105081 [G/C] NM_052831 SLC18B1 EXON Missense_P217A exm2111452 6 133105087 [T/C] NM_052831 SLC18B1 EXON Missense_I215V exm579600 6 133105117 [T/C] NM_052831 SLC18B1 EXON Missense_V205I exm579601 6 133105120 [T/C] NM_052831 SLC18B1 EXON Missense_V204I exm579616 6 133108710 [A/G] NM_052831 SLC18B1 EXON Nonsense_R122X exm579623 6 133111378 [T/C] NM_052831 SLC18B1 EXON Missense_G73S exm579624 6 133111383 [A/T] NM_052831 SLC18B1 EXON Missense_I71N exm579636 6 133119564 [A/C] NM_052831 SLC18B1 EXON Missense_R11L exm-rs7769051 6 133146796 [A/C] exm-rs271118 6 133236406 [T/C] exm2266257 6 133655858 [A/G] NM_172103,NM_172105,NM_004100 EYA4,EYA4,EYA4 Silent,Silent,Silent exm579726 6 133789728 [A/G] NM_172103,NM_172105,NM_004100 EYA4,EYA4,EYA4 EXON Missense_G254S,Missense_G277S,Missense_G277S exm579729 6 133789765 [T/C] NM_172103,NM_172105,NM_004100 EYA4,EYA4,EYA4 EXON Missense_T266M,Missense_T289M,Missense_T289M exm579731 6 133789804 [A/G] NM_172103,NM_172105,NM_004100 EYA4,EYA4,EYA4 EXON Missense_G279D,Missense_G302D,Missense_G302D exm579733 6 133789860 [A/G] NM_172103,NM_172105,NM_004100 EYA4,EYA4,EYA4 EXON Missense_N298D,Missense_N321D,Missense_N321D exm579737 6 133802617 [T/G] NM_172103,NM_172105,NM_004100 EYA4,EYA4,EYA4 EXON Missense_M306I,Missense_M329I,Missense_M329I exm579738 6 133802665 [G/C] NM_172103,NM_172105,NM_004100 EYA4,EYA4,EYA4 EXON Missense_R322S,Missense_R345S,Missense_R345S exm579740 6 133804171 [A/G] NM_172103,NM_172105,NM_004100 EYA4,EYA4,EYA4 EXON Missense_R347H,Missense_R370H,Missense_R370H exm579743 6 133804235 [T/G] NM_172103,NM_172105,NM_004100 EYA4,EYA4,EYA4 EXON Nonsense_Y368X,Nonsense_Y391X,Nonsense_Y391X exm579750 6 133834093 [T/G] NM_172103,NM_172105,NM_004100 EYA4,EYA4,EYA4 EXON Missense_G450V,Missense_G473V,Missense_G473V exm-rs9402515 6 133860345 [A/G] exm2266343 6 134013272 [A/G] exm-rs2327429 6 134209837 [T/C] exm579780 6 134210598 [C/G] NM_198392,NM_003206 TCF21,TCF21 EXON Missense_D21E,Missense_D21E exm579781 6 134210600 [T/G] NM_198392,NM_003206 TCF21,TCF21 EXON Missense_G22V,Missense_G22V exm579783 6 134210675 [A/G] NM_198392,NM_003206 TCF21,TCF21 EXON Missense_G47E,Missense_G47E exm579796 6 134210947 [A/G] NM_198392,NM_003206 TCF21,TCF21 EXON Missense_D138N,Missense_D138N exm2257535 6 134248060 [A/G] exm579806 6 134303785 [A/C] NM_001253676,NM_004865 TBPL1,TBPL1 EXON Missense_T72K,Missense_T72K exm2273427 6 134308216 [G/C] NM_001253676,NM_004865 TBPL1,TBPL1 EXON Silent,Silent exm579822 6 134312391 [A/G] NM_145176 SLC2A12 EXON Missense_P586S exm579833 6 134349533 [A/G] NM_145176 SLC2A12 EXON Missense_I477T exm579855 6 134349968 [A/G] NM_145176 SLC2A12 EXON Missense_I332T exm2111590 6 134350154 [T/C] NM_145176 SLC2A12 EXON Missense_R270H exm579870 6 134350290 [A/C] NM_145176 SLC2A12 EXON Missense_V225L exm579889 6 134350656 [T/C] NM_145176 SLC2A12 EXON Missense_R103G exm-rs6908581 6 134417322 [A/C] exm2264213 6 134461880 [A/C] exm579903 6 134491422 [A/G] NM_005627,NM_001143678,NM_001143677,NM_001143676 SGK1,SGK1,SGK1,SGK1 EXON Missense_T427M,Missense_T441M,Missense_T455M,Missense_T522M exm579909 6 134491554 [T/C] NM_005627,NM_001143678,NM_001143677,NM_001143676 SGK1,SGK1,SGK1,SGK1 EXON Missense_R383Q,Missense_R397Q,Missense_R411Q,Missense_R478Q exm579922 6 134492266 [T/G] NM_005627,NM_001143678,NM_001143677,NM_001143676 SGK1,SGK1,SGK1,SGK1 EXON Missense_N311K,Missense_N325K,Missense_N339K,Missense_N406K exm579951 6 134494670 [A/G] NM_005627,NM_001143678,NM_001143677,NM_001143676 SGK1,SGK1,SGK1,SGK1 EXON Missense_S88L,Missense_S102L,Missense_S116L,Missense_S183L exm579959 6 134495156 [T/A] NM_005627,NM_001143678,NM_001143677,NM_001143676 SGK1,SGK1,SGK1,SGK1 EXON Missense_N72I,Missense_N86I,Missense_N100I,Missense_N167I exm579993 6 134498824 [T/G] NM_001143677,NM_001143676 SGK1,SGK1 EXON Missense_E46A,Silent exm579999 6 134583160 [C/G] NM_001143676 SGK1 EXON Missense_Q66E exm580002 6 134583213 [A/G] NM_001143676 SGK1 EXON Missense_S48F exm580009 6 134638530 [T/C] NM_001143676 SGK1 EXON Synonymous_R23R exm-rs9321453 6 134773554 [T/C] NR_038216,NR_038217,NR_038218,NR_038219 LOC154092,LOC154092,LOC154092,LOC154092 Silent,Silent,Silent,Silent exm2257537 6 135128858 [A/G] exm-rs2049953 6 135138990 [A/C] exm2277305 6 135239633 [T/C] NM_001193480,NM_022568,NM_170771 ALDH8A1,ALDH8A1,ALDH8A1 EXON Missense_S412G,Missense_S462G,Missense_S408G exm580019 6 135239758 [G/C] NM_001193480,NM_022568,NM_170771 ALDH8A1,ALDH8A1,ALDH8A1 EXON Missense_A370G,Missense_A420G,Missense_A366G exm580030 6 135239941 [T/C] NM_001193480,NM_022568,NM_170771 ALDH8A1,ALDH8A1,ALDH8A1 EXON Missense_D309G,Missense_D359G,Missense_D305G exm580031 6 135239942 [T/C] NM_001193480,NM_022568,NM_170771 ALDH8A1,ALDH8A1,ALDH8A1 EXON Missense_D309N,Missense_D359N,Missense_D305N exm580032 6 135239954 [T/C] NM_001193480,NM_022568,NM_170771 ALDH8A1,ALDH8A1,ALDH8A1 EXON Missense_G305S,Missense_G355S,Missense_G301S exm580034 6 135239993 [T/C] NM_001193480,NM_022568,NM_170771 ALDH8A1,ALDH8A1,ALDH8A1 EXON Missense_V292I,Missense_V342I,Missense_V288I exm580050 6 135254132 [T/C] NM_001193480,NM_022568,NM_170771 ALDH8A1,ALDH8A1,ALDH8A1 EXON Missense_G161R,Missense_G211R,Missense_G211R exm580053 6 135260437 [T/C] NM_001193480,NM_022568,NM_170771 ALDH8A1,ALDH8A1,ALDH8A1 EXON Silent,Missense_A187T,Missense_A187T exm580054 6 135260478 [T/C] NM_001193480,NM_022568,NM_170771 ALDH8A1,ALDH8A1,ALDH8A1 EXON Silent,Missense_N173S,Missense_N173S exm580059 6 135263548 [A/G] NM_001193480,NM_022568,NM_170771 ALDH8A1,ALDH8A1,ALDH8A1 EXON Synonymous_V147V,Synonymous_V147V,Synonymous_V147V exm580062 6 135263603 [A/G] NM_001193480,NM_022568,NM_170771 ALDH8A1,ALDH8A1,ALDH8A1 EXON Missense_T129M,Missense_T129M,Missense_T129M exm580064 6 135263631 [A/C] NM_001193480,NM_022568,NM_170771 ALDH8A1,ALDH8A1,ALDH8A1 EXON Missense_S120A,Missense_S120A,Missense_S120A exm580078 6 135265052 [T/C] NM_001193480,NM_022568,NM_170771 ALDH8A1,ALDH8A1,ALDH8A1 EXON Missense_R64H,Missense_R64H,Missense_R64H exm580090 6 135271176 [T/C] NM_001193480,NM_022568,NM_170771 ALDH8A1,ALDH8A1,ALDH8A1 EXON Missense_A6T,Missense_A6T,Missense_A6T exm580091 6 135271178 [T/C] NM_001193480,NM_022568,NM_170771 ALDH8A1,ALDH8A1,ALDH8A1 EXON Missense_N5S,Missense_N5S,Missense_N5S exm2273428 6 135286230 [T/C] NM_006620,NM_001145158 HBS1L,HBS1L EXON Silent,Silent exm2274188 6 135290440 [T/C] NM_006620,NM_001145158 HBS1L,HBS1L EXON Missense_V612I,Missense_V570I exm580126 6 135306521 [T/C] NM_006620,NM_001145158 HBS1L,HBS1L EXON Missense_I484V,Missense_I442V exm2274189 6 135307258 [G/C] NM_006620,NM_001145158 HBS1L,HBS1L EXON Missense_Q457E,Missense_Q415E exm580129 6 135307309 [G/C] NM_006620,NM_001145158 HBS1L,HBS1L EXON Missense_G440R,Missense_G398R exm580159 6 135323873 [T/C] NM_006620,NM_001145158 HBS1L,HBS1L EXON Missense_G180R,Missense_G138R exm2111729 6 135323891 [T/C] NM_006620,NM_001145158 HBS1L,HBS1L EXON Missense_M174V,Missense_M132V exm580160 6 135323909 [A/C] NM_006620,NM_001145158 HBS1L,HBS1L EXON Missense_S168A,Missense_S126A exm580161 6 135323911 [A/G] NM_006620,NM_001145158 HBS1L,HBS1L EXON Missense_V167A,Missense_V125A exm580163 6 135323953 [T/C] NM_006620,NM_001145158 HBS1L,HBS1L EXON Missense_R153Q,Missense_R111Q exm580164 6 135323961 [C/G] NM_006620,NM_001145158 HBS1L,HBS1L EXON Missense_Q150H,Missense_Q108H exm580165 6 135323972 [T/C] NM_006620,NM_001145158 HBS1L,HBS1L EXON Missense_V147I,Missense_V105I exm2111731 6 135323980 [T/C] NM_006620,NM_001145158 HBS1L,HBS1L EXON Missense_G144E,Missense_G102E exm580167 6 135357790 [T/C] NM_006620,NM_001145158,NM_001145207 HBS1L,HBS1L,HBS1L EXON Silent,Silent,Missense_S602N exm580171 6 135357857 [T/C] NM_006620,NM_001145158,NM_001145207 HBS1L,HBS1L,HBS1L EXON Silent,Silent,Missense_T580A exm2243195 6 135358589 [T/C] NM_006620,NM_001145158,NM_001145207 HBS1L,HBS1L,HBS1L EXON Silent,Silent,Missense_D336N exm580188 6 135358904 [T/C] NM_006620,NM_001145158,NM_001145207 HBS1L,HBS1L,HBS1L EXON Silent,Silent,Missense_M231V exm580190 6 135358934 [T/C] NM_006620,NM_001145158,NM_001145207 HBS1L,HBS1L,HBS1L EXON Silent,Silent,Missense_E221K exm580195 6 135360757 [G/C] NM_006620,NM_001145158,NM_001145207 HBS1L,HBS1L,HBS1L EXON Missense_L128F,Missense_L86F,Missense_L128F exm580202 6 135360893 [A/G] NM_006620,NM_001145158,NM_001145207 HBS1L,HBS1L,HBS1L EXON Missense_S83L,Missense_S41L,Missense_S83L exm580207 6 135363211 [T/C] NM_006620,NM_001145158,NM_001145207 HBS1L,HBS1L,HBS1L EXON Missense_E55K,Silent,Missense_E55K exm580209 6 135363244 [A/G] NM_006620,NM_001145158,NM_001145207 HBS1L,HBS1L,HBS1L EXON Missense_R44W,Silent,Missense_R44W exm580214 6 135375791 [A/C] NM_006620,NM_001145158,NM_001145207 HBS1L,HBS1L,HBS1L EXON Missense_D13E,Missense_D13E,Missense_D13E exm-rs9376090 6 135411228 [T/C] exm-rs7775698 6 135418635 [T/C] exm-rs7776054 6 135418916 [A/G] exm-rs9373124 6 135423209 [T/C] exm-rs4895441 6 135426573 [A/G] exm-rs9376092 6 135427144 [A/C] exm-rs9402686 6 135427817 [A/G] exm-rs9494145 6 135432552 [T/C] exm-rs9483788 6 135435501 [T/C] exm-rs6569992 6 135452152 [A/G] exm580235 6 135513614 [T/C] NM_001130173,NM_001161658,NM_001161657,NM_005375,NM_001161656,NM_001130172,NM_001161660,NM_001161659 MYB,MYB,MYB,MYB,MYB,MYB,MYB,MYB EXON Missense_P227L,Missense_P227L,Missense_P227L,Missense_P227L,Missense_P227L,Missense_P227L,Missense_P227L,Missense_P227L exm580253 6 135516944 [T/C] NM_001130173,NM_001161658,NM_001161657,NM_005375,NM_001161656,NM_001130172,NM_001161660,NM_001161659 MYB,MYB,MYB,MYB,MYB,MYB,MYB,MYB EXON Missense_T336I,Missense_T336I,Silent,Missense_T336I,Missense_T333I,Missense_T333I,Missense_T301I,Missense_T336I exm580261 6 135518108 [T/C] NM_001130173,NM_001161658,NM_001161657,NM_005375,NM_001161656,NM_001130172,NM_001161660,NM_001161659 MYB,MYB,MYB,MYB,MYB,MYB,MYB,MYB EXON Missense_S405P,Missense_S389P,Silent,Silent,Missense_S402P,Silent,Silent,Silent exm580276 6 135520107 [A/C] NM_001130173,NM_001161658,NM_001161657,NM_005375,NM_001161656,NM_001130172,NM_001161660,NM_001161659 MYB,MYB,MYB,MYB,MYB,MYB,MYB,MYB EXON Missense_T543N,Missense_T527N,Missense_T337N,Missense_T422N,Missense_T540N,Missense_T419N,Missense_T387N,Missense_T422N exm580280 6 135520156 [A/C] NM_001130173,NM_001161658,NM_001161657,NM_005375,NM_001161656,NM_001130172,NM_001161660,NM_001161659 MYB,MYB,MYB,MYB,MYB,MYB,MYB,MYB EXON Missense_D559E,Missense_D543E,Missense_D353E,Missense_D438E,Missense_D556E,Missense_D435E,Missense_D403E,Missense_D438E exm580286 6 135521489 [A/C] NM_001130173,NM_001161658,NM_001161657,NM_005375,NM_001161656,NM_001130172,NM_001161660,NM_001161659 MYB,MYB,MYB,MYB,MYB,MYB,MYB,MYB EXON Missense_E629A,Missense_E613A,Missense_E423A,Missense_E508A,Missense_E626A,Missense_E505A,Missense_E473A,Missense_E508A exm580287 6 135521495 [A/G] NM_001130173,NM_001161658,NM_001161657,NM_005375,NM_001161656,NM_001130172,NM_001161660,NM_001161659 MYB,MYB,MYB,MYB,MYB,MYB,MYB,MYB EXON Missense_G631E,Missense_G615E,Missense_G425E,Missense_G510E,Missense_G628E,Missense_G507E,Missense_G475E,Missense_G510E exm580302 6 135524449 [T/C] NM_001130173,NM_001161658,NM_001161657,NM_005375,NM_001161656,NM_001130172,NM_001161660,NM_001161659 MYB,MYB,MYB,MYB,MYB,MYB,MYB,MYB EXON Missense_A719V,Missense_A703V,Missense_A513V,Missense_A598V,Missense_A716V,Missense_A595V,Missense_A563V,Missense_A561V exm2270409 6 135525396 [T/G] NM_001130173,NM_001161658,NM_001161657,NM_005375,NM_001161656,NM_001130172,NM_001161660,NM_001161659 MYB,MYB,MYB,MYB,MYB,MYB,MYB,MYB Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm580310 6 135539080 [T/C] NM_001130173,NM_001161658,NM_001161657,NM_005375,NM_001161656,NM_001130172,NM_001161660,NM_001161659 MYB,MYB,MYB,MYB,MYB,MYB,MYB,MYB EXON Missense_Y750H,Missense_Y734H,Missense_Y544H,Missense_Y629H,Missense_Y747H,Missense_Y626H,Missense_Y594H,Missense_Y592H exm2262050 6 135606565 [A/G] NM_017651,NM_001134831,NM_001134830 AHI1,AHI1,AHI1 EXON Silent,Silent,Silent exm580324 6 135611603 [T/C] NM_017651,NM_001134831,NM_001134830 AHI1,AHI1,AHI1 EXON Missense_M1182I,Missense_M1182I,Missense_M1182I exm580325 6 135611614 [A/C] NM_017651,NM_001134831,NM_001134830 AHI1,AHI1,AHI1 EXON Missense_D1179Y,Missense_D1179Y,Missense_D1179Y exm580328 6 135611646 [T/C] NM_017651,NM_001134831,NM_001134830 AHI1,AHI1,AHI1 EXON Missense_E1168G,Missense_E1168G,Missense_E1168G exm580330 6 135621639 [A/G] NM_017651,NM_001134831,NM_001134830 AHI1,AHI1,AHI1 EXON Missense_H1162Y,Missense_H1162Y,Missense_H1162Y exm580331 6 135621645 [T/C] NM_017651,NM_001134831,NM_001134830 AHI1,AHI1,AHI1 EXON Missense_M1160V,Missense_M1160V,Missense_M1160V exm580335 6 135639715 [A/G] NM_017651,NM_001134831,NM_001134830 AHI1,AHI1,AHI1 EXON Missense_S1123F,Missense_S1123F,Missense_S1123F exm580343 6 135679271 [A/G] NM_017651,NM_001134831,NM_001134830 AHI1,AHI1,AHI1 EXON Missense_T1055M,Missense_T1055M,Missense_T1055M exm580353 6 135715970 [T/G] NM_017651,NM_001134831,NM_001134830,NM_001134832 AHI1,AHI1,AHI1,AHI1 EXON Missense_Q1018P,Missense_Q1018P,Missense_Q1018P,Missense_Q1018P exm580359 6 135726105 [T/C] NM_017651,NM_001134831,NM_001134830,NM_001134832 AHI1,AHI1,AHI1,AHI1 EXON Missense_R991H,Missense_R991H,Missense_R991H,Missense_R991H exm580370 6 135732574 [T/C] NM_017651,NM_001134831,NM_001134830,NM_001134832 AHI1,AHI1,AHI1,AHI1 EXON Missense_Q958R,Missense_Q958R,Missense_Q958R,Missense_Q958R exm580372 6 135732616 [T/C] NM_017651,NM_001134831,NM_001134830,NM_001134832 AHI1,AHI1,AHI1,AHI1 EXON Missense_Q944R,Missense_Q944R,Missense_Q944R,Missense_Q944R exm580374 6 135732649 [T/C] NM_017651,NM_001134831,NM_001134830,NM_001134832 AHI1,AHI1,AHI1,AHI1 EXON Missense_Y933C,Missense_Y933C,Missense_Y933C,Missense_Y933C exm580376 6 135748307 [T/C] NM_017651,NM_001134831,NM_001134830,NM_001134832 AHI1,AHI1,AHI1,AHI1 EXON Missense_H921R,Missense_H921R,Missense_H921R,Missense_H921R exm580379 6 135748355 [G/C] NM_017651,NM_001134831,NM_001134830,NM_001134832 AHI1,AHI1,AHI1,AHI1 EXON Missense_C905S,Missense_C905S,Missense_C905S,Missense_C905S exm580380 6 135748397 [T/C] NM_017651,NM_001134831,NM_001134830,NM_001134832 AHI1,AHI1,AHI1,AHI1 EXON Missense_R891Q,Missense_R891Q,Missense_R891Q,Missense_R891Q exm580391 6 135751024 [A/G] NM_017651,NM_001134831,NM_001134830,NM_001134832 AHI1,AHI1,AHI1,AHI1 EXON Missense_R830W,Missense_R830W,Missense_R830W,Missense_R830W exm580396 6 135752425 [A/G] NM_017651,NM_001134831,NM_001134830,NM_001134832 AHI1,AHI1,AHI1,AHI1 EXON Missense_T765I,Missense_T765I,Missense_T765I,Missense_T765I exm2257540 6 135763841 [A/G] NM_017651,NM_001134831,NM_001134830,NM_001134832 AHI1,AHI1,AHI1,AHI1 EXON Synonymous_I597I,Synonymous_I597I,Synonymous_I597I,Synonymous_I597I exm2257541 6 135768239 [A/G] NM_017651,NM_001134831,NM_001134830,NM_001134832 AHI1,AHI1,AHI1,AHI1 EXON Synonymous_H562H,Synonymous_H562H,Synonymous_H562H,Synonymous_H562H exm580413 6 135768282 [T/C] NM_017651,NM_001134831,NM_001134830,NM_001134832 AHI1,AHI1,AHI1,AHI1 EXON Missense_R548H,Missense_R548H,Missense_R548H,Missense_R548H exm580436 6 135778794 [T/C] NM_017651,NM_001134831,NM_001134830,NM_001134832 AHI1,AHI1,AHI1,AHI1 EXON Missense_D330G,Missense_D330G,Missense_D330G,Missense_D330G exm580437 6 135778797 [A/C] NM_017651,NM_001134831,NM_001134830,NM_001134832 AHI1,AHI1,AHI1,AHI1 EXON Missense_R329L,Missense_R329L,Missense_R329L,Missense_R329L exm580442 6 135784283 [T/G] NM_017651,NM_001134831,NM_001134830,NM_001134832 AHI1,AHI1,AHI1,AHI1 EXON Missense_T304K,Missense_T304K,Missense_T304K,Missense_T304K exm580444 6 135784341 [T/C] NM_017651,NM_001134831,NM_001134830,NM_001134832 AHI1,AHI1,AHI1,AHI1 EXON Missense_M285V,Missense_M285V,Missense_M285V,Missense_M285V exm580447 6 135784367 [G/C] NM_017651,NM_001134831,NM_001134830,NM_001134832 AHI1,AHI1,AHI1,AHI1 EXON Missense_S276C,Missense_S276C,Missense_S276C,Missense_S276C exm580450 6 135786977 [A/G] NM_017651,NM_001134831,NM_001134830,NM_001134832 AHI1,AHI1,AHI1,AHI1 EXON Missense_P242S,Missense_P242S,Missense_P242S,Missense_P242S exm580457 6 135787184 [T/C] NM_017651,NM_001134831,NM_001134830,NM_001134832 AHI1,AHI1,AHI1,AHI1 EXON Missense_A173T,Missense_A173T,Missense_A173T,Missense_A173T exm580467 6 135788730 [T/C] NM_017651,NM_001134831,NM_001134830,NM_001134832 AHI1,AHI1,AHI1,AHI1 EXON Missense_T60A,Missense_T60A,Missense_T60A,Missense_T60A exm580470 6 135811814 [A/G] NM_017651,NM_001134831,NM_001134830,NM_001134832 AHI1,AHI1,AHI1,AHI1 EXON Missense_R28C,Missense_R28C,Missense_R28C,Missense_R28C exm-rs947583 6 136133659 [T/C] exm2257543 6 136227558 [T/C] NM_018945 PDE7B Silent exm2270411 6 136370658 [T/G] NM_018945 PDE7B Silent exm580498 6 136429901 [T/C] NM_018945 PDE7B EXON Missense_R39C exm2111911 6 136468571 [A/G] NM_018945 PDE7B EXON Synonymous_R83R exm580532 6 136495009 [T/C] NM_018945 PDE7B EXON Synonymous_H262H exm2257544 6 136495009 [T/C] NM_018945 PDE7B EXON Synonymous_H262H exm580533 6 136495026 [T/C] NM_018945 PDE7B EXON Missense_T268I exm580535 6 136500209 [G/C] NM_018945 PDE7B EXON Missense_R293T exm580536 6 136500215 [A/G] NM_018945 PDE7B EXON Missense_K295R exm2111930 6 136502415 [A/G] NM_018945 PDE7B EXON Missense_M333I exm580552 6 136512815 [T/C] NM_018945 PDE7B EXON Missense_T397I exm580560 6 136512972 [C/G] NM_018945 PDE7B EXON Missense_S449R exm2262051 6 136516257 [T/C] NM_018945 PDE7B EXON Silent exm2275911 6 136552492 [C/G] NM_001099286,NM_138419 MTFR2,MTFR2 EXON Missense_R360P,Missense_R360P exm580565 6 136552493 [A/G] NM_001099286,NM_138419 MTFR2,MTFR2 EXON Nonsense_R360X,Nonsense_R360X exm580572 6 136554614 [A/T] NM_001099286,NM_138419 MTFR2,MTFR2 EXON Missense_H298L,Missense_H298L exm580574 6 136554635 [G/C] NM_001099286,NM_138419 MTFR2,MTFR2 EXON Nonsense_S291X,Nonsense_S291X exm580578 6 136560616 [T/C] NM_001099286,NM_138419 MTFR2,MTFR2 EXON Missense_R286H,Missense_R286H exm580579 6 136560617 [A/G] NM_001099286,NM_138419 MTFR2,MTFR2 EXON Missense_R286C,Missense_R286C exm580580 6 136560633 [T/C] NM_001099286,NM_138419 MTFR2,MTFR2 EXON Missense_M280I,Missense_M280I exm580587 6 136560827 [G/C] NM_001099286,NM_138419 MTFR2,MTFR2 EXON Missense_P216A,Missense_P216A exm580600 6 136562752 [T/C] NM_001099286,NM_138419 MTFR2,MTFR2 EXON Missense_R115Q,Missense_R115Q exm580603 6 136562762 [A/G] NM_001099286,NM_138419 MTFR2,MTFR2 EXON Nonsense_R112X,Nonsense_R112X exm580608 6 136564080 [A/T] NM_001099286,NM_138419 MTFR2,MTFR2 EXON Missense_D67V,Missense_D67V exm580611 6 136565919 [T/C] NM_001099286,NM_138419 MTFR2,MTFR2 EXON Missense_R51Q,Missense_R51Q exm580616 6 136570221 [T/C] NM_001099286,NM_138419 MTFR2,MTFR2 EXON Missense_N6S,Missense_N6S exm2111965 6 136582458 [T/C] NM_001077440,NM_014739,NM_001077441 BCLAF1,BCLAF1,BCLAF1 EXON Missense_E850G,Missense_E901G,Missense_E728G exm580635 6 136582497 [T/G] NM_001077440,NM_014739,NM_001077441 BCLAF1,BCLAF1,BCLAF1 EXON Missense_T837N,Missense_T888N,Missense_T715N exm580636 6 136582512 [T/C] NM_001077440,NM_014739,NM_001077441 BCLAF1,BCLAF1,BCLAF1 EXON Missense_S832N,Missense_S883N,Missense_S710N exm580641 6 136582549 [A/G] NM_001077440,NM_014739,NM_001077441 BCLAF1,BCLAF1,BCLAF1 EXON Missense_R820C,Missense_R871C,Missense_R698C exm580659 6 136589425 [T/G] NM_001077440,NM_014739,NM_001077441 BCLAF1,BCLAF1,BCLAF1 EXON Missense_P756T,Missense_P758T,Missense_P585T exm580660 6 136589431 [T/C] NM_001077440,NM_014739,NM_001077441 BCLAF1,BCLAF1,BCLAF1 EXON Missense_A754T,Missense_A756T,Missense_A583T exm580661 6 136589439 [T/G] NM_001077440,NM_014739,NM_001077441 BCLAF1,BCLAF1,BCLAF1 EXON Missense_S751Y,Missense_S753Y,Missense_S580Y exm580663 6 136589448 [A/C] NM_001077440,NM_014739,NM_001077441 BCLAF1,BCLAF1,BCLAF1 EXON Missense_R748L,Missense_R750L,Missense_R577L exm580664 6 136589449 [A/G] NM_001077440,NM_014739,NM_001077441 BCLAF1,BCLAF1,BCLAF1 EXON Nonsense_R748X,Nonsense_R750X,Nonsense_R577X exm580683 6 136590739 [T/G] NM_001077440,NM_014739,NM_001077441 BCLAF1,BCLAF1,BCLAF1 EXON Missense_K683N,Missense_K685N,Missense_K512N exm580704 6 136594277 [A/G] NM_001077440,NM_014739,NM_001077441 BCLAF1,BCLAF1,BCLAF1 EXON Missense_S632L,Missense_S634L,Missense_S461L exm580738 6 136597117 [T/G] NM_001077440,NM_014739,NM_001077441 BCLAF1,BCLAF1,BCLAF1 EXON Missense_H514N,Missense_H516N,Missense_H343N exm580761 6 136597378 [A/G] NM_001077440,NM_014739,NM_001077441 BCLAF1,BCLAF1,BCLAF1 EXON Missense_R427W,Missense_R429W,Silent exm580763 6 136597389 [A/G] NM_001077440,NM_014739,NM_001077441 BCLAF1,BCLAF1,BCLAF1 EXON Missense_T423I,Missense_T425I,Silent exm580769 6 136597449 [C/G] NM_001077440,NM_014739,NM_001077441 BCLAF1,BCLAF1,BCLAF1 EXON Missense_T403R,Missense_T405R,Silent exm580770 6 136597456 [A/C] NM_001077440,NM_014739,NM_001077441 BCLAF1,BCLAF1,BCLAF1 EXON Nonsense_E401X,Nonsense_E403X,Silent exm580773 6 136597482 [A/G] NM_001077440,NM_014739,NM_001077441 BCLAF1,BCLAF1,BCLAF1 EXON Missense_F392S,Missense_F394S,Silent exm580774 6 136597510 [T/C] NM_001077440,NM_014739,NM_001077441 BCLAF1,BCLAF1,BCLAF1 EXON Missense_S383G,Missense_S385G,Silent exm580792 6 136599060 [A/G] NM_001077440,NM_014739,NM_001077441 BCLAF1,BCLAF1,BCLAF1 EXON Missense_S318L,Missense_S320L,Missense_S320L exm580795 6 136599079 [T/C] NM_001077440,NM_014739,NM_001077441 BCLAF1,BCLAF1,BCLAF1 EXON Missense_E312K,Missense_E314K,Missense_E314K exm580816 6 136599270 [G/C] NM_001077440,NM_014739,NM_001077441 BCLAF1,BCLAF1,BCLAF1 EXON Missense_T248R,Missense_T250R,Missense_T250R exm580827 6 136599391 [T/C] NM_001077440,NM_014739,NM_001077441 BCLAF1,BCLAF1,BCLAF1 EXON Missense_G208S,Missense_G210S,Missense_G210S exm580844 6 136599524 [T/A] NM_001077440,NM_014739,NM_001077441 BCLAF1,BCLAF1,BCLAF1 EXON Missense_Q163H,Missense_Q165H,Missense_Q165H exm580846 6 136599544 [A/G] NM_001077440,NM_014739,NM_001077441 BCLAF1,BCLAF1,BCLAF1 EXON Nonsense_R157X,Nonsense_R159X,Nonsense_R159X exm580848 6 136599585 [T/C] NM_001077440,NM_014739,NM_001077441 BCLAF1,BCLAF1,BCLAF1 EXON Missense_R143H,Missense_R145H,Missense_R145H exm580854 6 136599627 [T/C] NM_001077440,NM_014739,NM_001077441 BCLAF1,BCLAF1,BCLAF1 EXON Missense_R129Q,Missense_R131Q,Missense_R131Q exm580855 6 136599628 [A/G] NM_001077440,NM_014739,NM_001077441 BCLAF1,BCLAF1,BCLAF1 EXON Missense_R129W,Missense_R131W,Missense_R131W exm580856 6 136599630 [T/C] NM_001077440,NM_014739,NM_001077441 BCLAF1,BCLAF1,BCLAF1 EXON Missense_R128H,Missense_R130H,Missense_R130H exm580863 6 136599699 [T/C] NM_001077440,NM_014739,NM_001077441 BCLAF1,BCLAF1,BCLAF1 EXON Missense_R105Q,Missense_R107Q,Missense_R107Q exm580866 6 136599714 [A/G] NM_001077440,NM_014739,NM_001077441 BCLAF1,BCLAF1,BCLAF1 EXON Missense_S100F,Missense_S102F,Missense_S102F exm580875 6 136599814 [A/G] NM_001077440,NM_014739,NM_001077441 BCLAF1,BCLAF1,BCLAF1 EXON Nonsense_R67X,Nonsense_R69X,Nonsense_R69X exm580881 6 136599846 [T/C] NM_001077440,NM_014739,NM_001077441 BCLAF1,BCLAF1,BCLAF1 EXON Missense_R56H,Missense_R58H,Missense_R58H exm580883 6 136599880 [A/G] NM_001077440,NM_014739,NM_001077441 BCLAF1,BCLAF1,BCLAF1 EXON Missense_R45C,Missense_R47C,Missense_R47C exm580884 6 136599885 [A/C] NM_001077440,NM_014739,NM_001077441 BCLAF1,BCLAF1,BCLAF1 EXON Missense_R43M,Missense_R45M,Missense_R45M exm580888 6 136599912 [T/G] NM_001077440,NM_014739,NM_001077441 BCLAF1,BCLAF1,BCLAF1 EXON Silent,Missense_S36Y,Missense_S36Y exm580904 6 136667027 [A/G] NM_001198615,NM_001198609,NM_003980,NM_001198616,NM_001198608,NM_001198619,NM_001198618,NM_001198614,NM_001198611,NM_001198617 MAP7,MAP7,MAP7,MAP7,MAP7,MAP7,MAP7,MAP7,MAP7,MAP7 EXON Nonsense_Q721X,Nonsense_Q766X,Nonsense_Q736X,Nonsense_Q699X,Nonsense_Q758X,Nonsense_Q590X,Nonsense_Q590X,Nonsense_Q758X,Nonsense_Q721X,Nonsense_Q642X exm580910 6 136667210 [T/C] NM_001198615,NM_001198609,NM_003980,NM_001198616,NM_001198608,NM_001198619,NM_001198618,NM_001198614,NM_001198611,NM_001198617 MAP7,MAP7,MAP7,MAP7,MAP7,MAP7,MAP7,MAP7,MAP7,MAP7 EXON Missense_D660N,Missense_D705N,Missense_D675N,Missense_D638N,Missense_D697N,Missense_D529N,Missense_D529N,Missense_D697N,Missense_D660N,Missense_D581N exm580912 6 136667216 [T/G] NM_001198615,NM_001198609,NM_003980,NM_001198616,NM_001198608,NM_001198619,NM_001198618,NM_001198614,NM_001198611,NM_001198617 MAP7,MAP7,MAP7,MAP7,MAP7,MAP7,MAP7,MAP7,MAP7,MAP7 EXON Missense_T658P,Missense_T703P,Missense_T673P,Missense_T636P,Missense_T695P,Missense_T527P,Missense_T527P,Missense_T695P,Missense_T658P,Missense_T579P exm580918 6 136677899 [A/G] NM_001198615,NM_001198609,NM_003980,NM_001198616,NM_001198608,NM_001198619,NM_001198618,NM_001198614,NM_001198611,NM_001198617 MAP7,MAP7,MAP7,MAP7,MAP7,MAP7,MAP7,MAP7,MAP7,MAP7 EXON Missense_P634L,Missense_P679L,Missense_P649L,Missense_P612L,Missense_P671L,Missense_P503L,Missense_P503L,Missense_P671L,Missense_P634L,Missense_P555L exm580920 6 136677908 [C/G] NM_001198615,NM_001198609,NM_003980,NM_001198616,NM_001198608,NM_001198619,NM_001198618,NM_001198614,NM_001198611,NM_001198617 MAP7,MAP7,MAP7,MAP7,MAP7,MAP7,MAP7,MAP7,MAP7,MAP7 EXON Missense_T631R,Missense_T676R,Missense_T646R,Missense_T609R,Missense_T668R,Missense_T500R,Missense_T500R,Missense_T668R,Missense_T631R,Missense_T552R exm580933 6 136681926 [T/G] NM_001198615,NM_001198609,NM_003980,NM_001198616,NM_001198608,NM_001198619,NM_001198618,NM_001198614,NM_001198611,NM_001198617 MAP7,MAP7,MAP7,MAP7,MAP7,MAP7,MAP7,MAP7,MAP7,MAP7 EXON Missense_E556A,Missense_E601A,Missense_E571A,Missense_E534A,Missense_E593A,Missense_E425A,Missense_E425A,Missense_E593A,Missense_E556A,Missense_E477A exm580942 6 136682235 [T/C] NM_001198615,NM_001198609,NM_003980,NM_001198616,NM_001198608,NM_001198619,NM_001198618,NM_001198614,NM_001198611,NM_001198617 MAP7,MAP7,MAP7,MAP7,MAP7,MAP7,MAP7,MAP7,MAP7,MAP7 EXON Missense_E522K,Missense_E567K,Missense_E537K,Missense_E500K,Missense_E559K,Missense_E391K,Missense_E391K,Missense_E559K,Missense_E522K,Missense_E443K exm580950 6 136683651 [T/C] NM_001198615,NM_001198609,NM_003980,NM_001198616,NM_001198608,NM_001198619,NM_001198618,NM_001198614,NM_001198611,NM_001198617 MAP7,MAP7,MAP7,MAP7,MAP7,MAP7,MAP7,MAP7,MAP7,MAP7 EXON Missense_R473Q,Missense_R518Q,Missense_R488Q,Missense_R451Q,Missense_R510Q,Missense_R342Q,Missense_R342Q,Missense_R510Q,Missense_R473Q,Missense_R394Q exm580957 6 136683810 [A/G] NM_001198615,NM_001198609,NM_003980,NM_001198616,NM_001198608,NM_001198619,NM_001198618,NM_001198614,NM_001198611,NM_001198617 MAP7,MAP7,MAP7,MAP7,MAP7,MAP7,MAP7,MAP7,MAP7,MAP7 EXON Missense_S420L,Missense_S465L,Missense_S435L,Missense_S398L,Missense_S457L,Missense_S289L,Missense_S289L,Missense_S457L,Missense_S420L,Missense_S341L exm580958 6 136683828 [A/G] NM_001198615,NM_001198609,NM_003980,NM_001198616,NM_001198608,NM_001198619,NM_001198618,NM_001198614,NM_001198611,NM_001198617 MAP7,MAP7,MAP7,MAP7,MAP7,MAP7,MAP7,MAP7,MAP7,MAP7 EXON Missense_M414T,Missense_M459T,Missense_M429T,Missense_M392T,Missense_M451T,Missense_M283T,Missense_M283T,Missense_M451T,Missense_M414T,Missense_M335T exm580965 6 136687061 [T/C] NM_001198615,NM_001198609,NM_003980,NM_001198616,NM_001198608,NM_001198619,NM_001198618,NM_001198614,NM_001198611,NM_001198617 MAP7,MAP7,MAP7,MAP7,MAP7,MAP7,MAP7,MAP7,MAP7,MAP7 EXON Missense_R347Q,Missense_R392Q,Missense_R362Q,Missense_R325Q,Missense_R384Q,Missense_R216Q,Missense_R216Q,Missense_R384Q,Missense_R347Q,Missense_R268Q exm580966 6 136687065 [T/C] NM_001198615,NM_001198609,NM_003980,NM_001198616,NM_001198608,NM_001198619,NM_001198618,NM_001198614,NM_001198611,NM_001198617 MAP7,MAP7,MAP7,MAP7,MAP7,MAP7,MAP7,MAP7,MAP7,MAP7 EXON Missense_V346I,Missense_V391I,Missense_V361I,Missense_V324I,Missense_V383I,Missense_V215I,Missense_V215I,Missense_V383I,Missense_V346I,Missense_V267I exm580978 6 136687471 [T/C] NM_001198615,NM_001198609,NM_003980,NM_001198616,NM_001198608,NM_001198619,NM_001198618,NM_001198614,NM_001198611,NM_001198617 MAP7,MAP7,MAP7,MAP7,MAP7,MAP7,MAP7,MAP7,MAP7,MAP7 EXON Missense_R313Q,Missense_R358Q,Missense_R328Q,Missense_R291Q,Missense_R350Q,Missense_R182Q,Missense_R182Q,Missense_R350Q,Missense_R313Q,Missense_R234Q exm580979 6 136687478 [A/G] NM_001198615,NM_001198609,NM_003980,NM_001198616,NM_001198608,NM_001198619,NM_001198618,NM_001198614,NM_001198611,NM_001198617 MAP7,MAP7,MAP7,MAP7,MAP7,MAP7,MAP7,MAP7,MAP7,MAP7 EXON Missense_R311C,Missense_R356C,Missense_R326C,Missense_R289C,Missense_R348C,Missense_R180C,Missense_R180C,Missense_R348C,Missense_R311C,Missense_R232C exm580985 6 136693680 [T/G] NM_001198615,NM_001198609,NM_003980,NM_001198616,NM_001198608,NM_001198619,NM_001198618,NM_001198614,NM_001198611,NM_001198617 MAP7,MAP7,MAP7,MAP7,MAP7,MAP7,MAP7,MAP7,MAP7,MAP7 EXON Missense_P264T,Missense_P309T,Missense_P279T,Missense_P242T,Missense_P301T,Missense_P133T,Missense_P133T,Missense_P301T,Missense_P264T,Missense_P185T exm580991 6 136693745 [T/A] NM_001198615,NM_001198609,NM_003980,NM_001198616,NM_001198608,NM_001198619,NM_001198618,NM_001198614,NM_001198611,NM_001198617 MAP7,MAP7,MAP7,MAP7,MAP7,MAP7,MAP7,MAP7,MAP7,MAP7 EXON Missense_I242N,Missense_I287N,Missense_I257N,Missense_I220N,Missense_I279N,Missense_I111N,Missense_I111N,Missense_I279N,Missense_I242N,Missense_I163N exm580992 6 136693770 [A/G] NM_001198615,NM_001198609,NM_003980,NM_001198616,NM_001198608,NM_001198619,NM_001198618,NM_001198614,NM_001198611,NM_001198617 MAP7,MAP7,MAP7,MAP7,MAP7,MAP7,MAP7,MAP7,MAP7,MAP7 EXON Silent,Missense_R279C,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm580993 6 136698932 [T/C] NM_001198615,NM_001198609,NM_003980,NM_001198616,NM_001198608,NM_001198619,NM_001198618,NM_001198614,NM_001198611,NM_001198617 MAP7,MAP7,MAP7,MAP7,MAP7,MAP7,MAP7,MAP7,MAP7,MAP7 EXON Missense_A223T,Missense_A260T,Missense_A238T,Missense_A201T,Missense_A260T,Missense_A92T,Missense_A92T,Missense_A260T,Missense_A223T,Missense_A144T exm580995 6 136698952 [A/G] NM_001198615,NM_001198609,NM_003980,NM_001198616,NM_001198608,NM_001198619,NM_001198618,NM_001198614,NM_001198611,NM_001198617 MAP7,MAP7,MAP7,MAP7,MAP7,MAP7,MAP7,MAP7,MAP7,MAP7 EXON Missense_T216M,Missense_T253M,Missense_T231M,Missense_T194M,Missense_T253M,Missense_T85M,Missense_T85M,Missense_T253M,Missense_T216M,Missense_T137M exm580997 6 136704847 [G/C] NM_001198615,NM_001198609,NM_003980,NM_001198616,NM_001198608,NM_001198619,NM_001198618,NM_001198614,NM_001198611,NM_001198617 MAP7,MAP7,MAP7,MAP7,MAP7,MAP7,MAP7,MAP7,MAP7,MAP7 EXON Missense_S185C,Missense_S222C,Missense_S200C,Silent,Missense_S222C,Missense_S54C,Missense_S54C,Missense_S222C,Silent,Missense_S106C exm581002 6 136709581 [T/C] NM_001198615,NM_001198609,NM_003980,NM_001198616,NM_001198608,NM_001198619,NM_001198618,NM_001198614,NM_001198611,NM_001198617 MAP7,MAP7,MAP7,MAP7,MAP7,MAP7,MAP7,MAP7,MAP7,MAP7 EXON Missense_R144H,Missense_R181H,Missense_R159H,Missense_R159H,Missense_R181H,Missense_R13H,Missense_R13H,Missense_R181H,Missense_R181H,Silent exm2257545 6 136709598 [T/C] NM_001198615,NM_001198609,NM_003980,NM_001198616,NM_001198608,NM_001198619,NM_001198618,NM_001198614,NM_001198611,NM_001198617 MAP7,MAP7,MAP7,MAP7,MAP7,MAP7,MAP7,MAP7,MAP7,MAP7 EXON Synonymous_P138P,Synonymous_P175P,Synonymous_P153P,Synonymous_P153P,Synonymous_P175P,Synonymous_P7P,Synonymous_P7P,Synonymous_P175P,Synonymous_P175P,Silent exm581004 6 136709598 [T/C] NM_001198615,NM_001198609,NM_003980,NM_001198616,NM_001198608,NM_001198619,NM_001198618,NM_001198614,NM_001198611,NM_001198617 MAP7,MAP7,MAP7,MAP7,MAP7,MAP7,MAP7,MAP7,MAP7,MAP7 EXON Synonymous_P138P,Synonymous_P175P,Synonymous_P153P,Synonymous_P153P,Synonymous_P175P,Synonymous_P7P,Synonymous_P7P,Synonymous_P175P,Synonymous_P175P,Silent exm581010 6 136710517 [T/C] NM_001198615,NM_001198609,NM_003980,NM_001198616,NM_001198608,NM_001198619,NM_001198618,NM_001198614,NM_001198611,NM_001198617 MAP7,MAP7,MAP7,MAP7,MAP7,MAP7,MAP7,MAP7,MAP7,MAP7 EXON Missense_R113Q,Missense_R150Q,Missense_R128Q,Missense_R128Q,Missense_R150Q,Silent,Silent,Missense_R150Q,Missense_R150Q,Silent exm581019 6 136732772 [T/C] NM_001198615,NM_001198609,NM_003980,NM_001198616,NM_001198608,NM_001198619,NM_001198618,NM_001198614,NM_001198611,NM_001198617 MAP7,MAP7,MAP7,MAP7,MAP7,MAP7,MAP7,MAP7,MAP7,MAP7 EXON Missense_R62Q,Missense_R99Q,Missense_R77Q,Missense_R77Q,Missense_R99Q,Silent,Silent,Missense_R99Q,Missense_R99Q,Missense_R77Q exm581021 6 136732791 [A/G] NM_001198615,NM_001198609,NM_003980,NM_001198616,NM_001198608,NM_001198619,NM_001198618,NM_001198614,NM_001198611,NM_001198617 MAP7,MAP7,MAP7,MAP7,MAP7,MAP7,MAP7,MAP7,MAP7,MAP7 EXON Missense_R56W,Missense_R93W,Missense_R71W,Missense_R71W,Missense_R93W,Silent,Silent,Missense_R93W,Missense_R93W,Missense_R71W exm2274190 6 136732818 [A/G] NM_001198615,NM_001198609,NM_003980,NM_001198616,NM_001198608,NM_001198619,NM_001198618,NM_001198614,NM_001198611,NM_001198617 MAP7,MAP7,MAP7,MAP7,MAP7,MAP7,MAP7,MAP7,MAP7,MAP7 EXON Missense_R47C,Missense_R84C,Missense_R62C,Missense_R62C,Missense_R84C,Silent,Silent,Missense_R84C,Missense_R84C,Missense_R62C exm2243210 6 136847042 [T/C] NM_001198609,NM_003980,NM_001198616,NM_001198608,NM_001198619,NM_001198618,NM_001198614,NM_001198611,NM_001198617 MAP7,MAP7,MAP7,MAP7,MAP7,MAP7,MAP7,MAP7,MAP7 EXON Missense_I21V,Silent,Silent,Missense_I21V,Silent,Silent,Missense_I21V,Missense_I21V,Silent exm581035 6 136882715 [T/C] NM_005923 MAP3K5 EXON Missense_D1315N exm581036 6 136882717 [A/G] NM_005923 MAP3K5 EXON Missense_T1314I exm581042 6 136888782 [T/C] NM_005923 MAP3K5 EXON Missense_I1250V exm581045 6 136888815 [A/G] NM_005923 MAP3K5 EXON Missense_R1239W exm581046 6 136888823 [T/C] NM_005923 MAP3K5 EXON Missense_S1236N exm581050 6 136888889 [A/G] NM_005923 MAP3K5 EXON Missense_I1214T exm2112084 6 136904803 [A/T] NM_005923 MAP3K5 EXON Missense_T1101S exm581071 6 136913602 [A/G] NM_005923 MAP3K5 EXON Missense_V1010A exm2243211 6 136913615 [T/C] NM_005923 MAP3K5 EXON Missense_G1006R exm581078 6 136913684 [T/C] NM_005923 MAP3K5 EXON Missense_G983S exm581084 6 136922943 [A/G] NM_005923 MAP3K5 EXON Missense_S952P exm581103 6 136944014 [T/C] NM_005923 MAP3K5 EXON Missense_I708V exm581106 6 136944083 [T/C] NM_005923 MAP3K5 EXON Missense_V685I exm581133 6 136990480 [A/G] NM_005923 MAP3K5 EXON Missense_A436V exm581141 6 137015311 [A/G] NM_005923 MAP3K5 EXON Missense_T407M exm2274191 6 137018506 [T/C] NM_005923 MAP3K5 EXON Missense_I276V exm2270412 6 137076010 [T/C] NM_005923 MAP3K5 Silent exm581165 6 137112958 [A/C] NM_005923 MAP3K5 EXON Missense_L113R exm581171 6 137113248 [G/C] NM_005923 MAP3K5 EXON Missense_F16L exm581183 6 137166790 [A/C] NM_000288 PEX7 EXON Missense_Q126P exm581204 6 137219351 [A/T] NM_000288 PEX7 EXON Nonsense_L292X exm581207 6 137219380 [G/C] NM_000288 PEX7 Silent exm581209 6 137234633 [A/G] NM_000288 PEX7 EXON Missense_Y314C exm581218 6 137243720 [A/G] NM_001008783 SLC35D3 EXON Missense_A52T exm2257549 6 137245516 [T/C] NM_001008783 SLC35D3 EXON Synonymous_Y311Y exm581237 6 137245534 [C/G] NM_001008783 SLC35D3 EXON Missense_Q317H exm581238 6 137245544 [A/G] NM_001008783 SLC35D3 EXON Missense_E321K exm581240 6 137245567 [A/C] NM_001008783 SLC35D3 EXON Missense_D328E exm581244 6 137245731 [A/G] NM_001008783 SLC35D3 EXON Missense_R383K exm581247 6 137245785 [A/C] NM_001008783 SLC35D3 EXON Missense_Y401S exm581248 6 137245800 [A/C] NM_001008783 SLC35D3 EXON Missense_Y406S exm581249 6 137245814 [G/C] NM_001008783 SLC35D3 EXON Missense_E411Q exm581259 6 137322820 [T/C] NM_014432 IL20RA EXON Missense_G513R exm581261 6 137322833 [A/C] NM_014432 IL20RA EXON Missense_E508D exm581269 6 137323017 [T/C] NM_014432 IL20RA EXON Missense_Q447R exm581272 6 137323071 [T/C] NM_014432 IL20RA EXON Missense_G429E exm581274 6 137323081 [A/G] NM_014432 IL20RA EXON Missense_S426P exm581279 6 137323213 [A/G] NM_014432 IL20RA EXON Missense_L382F exm581283 6 137323353 [T/G] NM_014432 IL20RA EXON Missense_D335A exm581284 6 137323395 [T/C] NM_014432 IL20RA EXON Missense_K321R exm581285 6 137323419 [T/G] NM_014432 IL20RA EXON Missense_T313N exm581287 6 137325825 [A/C] NM_014432 IL20RA EXON Missense_F266C exm581288 6 137325847 [T/C] NM_014432 IL20RA EXON Missense_V259I exm581298 6 137330455 [A/G] NM_014432 IL20RA EXON Missense_T193M exm581299 6 137330486 [T/C] NM_014432 IL20RA EXON Missense_V183M exm581300 6 137330503 [T/G] NM_014432 IL20RA EXON Missense_S177Y exm581310 6 137332551 [T/C] NM_014432 IL20RA EXON Missense_R88K exm2270525 6 137337096 [T/C] NM_014432 IL20RA Silent exm581312 6 137338202 [T/C] NM_014432 IL20RA EXON Missense_I43V exm581313 6 137338225 [A/C] NM_014432 IL20RA EXON Missense_G35V exm581320 6 137466819 [T/C] NM_181309,NM_052962,NM_181310 IL22RA2,IL22RA2,IL22RA2 EXON Missense_Q213R,Missense_Q245R,Silent exm581328 6 137466911 [T/C] NM_181309,NM_052962,NM_181310 IL22RA2,IL22RA2,IL22RA2 Silent,Silent,Silent exm581330 6 137468891 [A/G] NM_181309,NM_052962,NM_181310 IL22RA2,IL22RA2,IL22RA2 EXON Nonsense_R172X,Nonsense_R204X,Silent exm581332 6 137468916 [T/C] NM_181309,NM_052962,NM_181310 IL22RA2,IL22RA2,IL22RA2 EXON Missense_I163M,Missense_I195M,Silent exm581335 6 137468959 [T/G] NM_181309,NM_052962,NM_181310 IL22RA2,IL22RA2,IL22RA2 EXON Missense_P149Q,Missense_P181Q,Silent exm2112212 6 137476085 [C/G] NM_181309,NM_052962,NM_181310 IL22RA2,IL22RA2,IL22RA2 EXON Missense_W123C,Missense_W155C,Missense_W123C exm581342 6 137476104 [A/G] NM_181309,NM_052962,NM_181310 IL22RA2,IL22RA2,IL22RA2 EXON Missense_T117M,Missense_T149M,Missense_T117M exm2112213 6 137476123 [A/G] NM_181309,NM_052962,NM_181310 IL22RA2,IL22RA2,IL22RA2 EXON Missense_Y111H,Missense_Y143H,Missense_Y111H exm581347 6 137476153 [T/C] NM_181309,NM_052962,NM_181310 IL22RA2,IL22RA2,IL22RA2 EXON Missense_G101R,Missense_G133R,Missense_G101R exm581350 6 137476233 [T/G] NM_181309,NM_052962,NM_181310 IL22RA2,IL22RA2,IL22RA2 EXON Missense_N74T,Missense_N106T,Missense_N74T exm581364 6 137479566 [A/G] NM_181309,NM_052962,NM_181310 IL22RA2,IL22RA2,IL22RA2 EXON Nonsense_R39X,Nonsense_R39X,Nonsense_R39X exm581368 6 137482840 [A/G] NM_181309,NM_052962,NM_181310 IL22RA2,IL22RA2,IL22RA2 EXON Missense_L16P,Missense_L16P,Missense_L16P exm581369 6 137482847 [A/C] NM_181309,NM_052962,NM_181310 IL22RA2,IL22RA2,IL22RA2 EXON Missense_F14V,Missense_F14V,Missense_F14V exm2266260 6 137508437 [A/G] exm581379 6 137519224 [T/C] NM_000416 IFNGR1 EXON Missense_G472S exm581381 6 137519238 [A/G] NM_000416 IFNGR1 EXON Missense_L467P exm2112228 6 137519483 [A/G] NM_000416 IFNGR1 EXON Synonymous_N385N exm581396 6 137519545 [T/C] NM_000416 IFNGR1 EXON Missense_V365M exm581404 6 137519634 [T/G] NM_000416 IFNGR1 EXON Missense_H335P exm581408 6 137522104 [G/C] NM_000416 IFNGR1 EXON Missense_L259V exm581409 6 137522128 [C/G] NM_000416 IFNGR1 EXON Missense_V251L exm581423 6 137524803 [T/G] NM_000416 IFNGR1 EXON Missense_T189K exm581424 6 137525477 [T/C] NM_000416 IFNGR1 EXON Missense_G180R exm581428 6 137525549 [T/C] NM_000416 IFNGR1 EXON Missense_E156K exm581435 6 137527386 [A/G] NM_000416 IFNGR1 EXON Missense_I87T exm581440 6 137528119 [T/C] NM_000416 IFNGR1 EXON Missense_V61I exm581447 6 137540381 [T/C] NM_000416 IFNGR1 EXON Synonymous_S28S exm2243219 6 137540425 [T/C] NM_000416 IFNGR1 EXON Missense_V14M exm581457 6 137814509 [A/G] NM_175747 OLIG3 EXON Missense_S267P exm2112243 6 137814692 [T/C] NM_175747 OLIG3 EXON Missense_I206V exm581466 6 137814695 [T/C] NM_175747 OLIG3 EXON Missense_A205T exm581467 6 137814707 [A/C] NM_175747 OLIG3 EXON Missense_A201S exm2274192 6 137814767 [T/C] NM_175747 OLIG3 EXON Missense_V181M exm581483 6 137815052 [T/G] NM_175747 OLIG3 EXON Missense_L86M exm581486 6 137815120 [A/G] NM_175747 OLIG3 EXON Missense_A63V exm581488 6 137815170 [A/T] NM_175747 OLIG3 EXON Missense_D46E exm2270526 6 137842399 [T/C] exm2257551 6 137941227 [T/C] exm-rs2327832 6 137973068 [A/G] exm-rs10499194 6 138002637 [T/C] exm-rs6920220 6 138006504 [A/G] exm2257552 6 138192646 [A/G] NM_001270507,NM_001270508,NM_006290 TNFAIP3,TNFAIP3,TNFAIP3 EXON Synonymous_A94A,Synonymous_A94A,Synonymous_A94A exm581500 6 138192646 [A/G] NM_001270507,NM_001270508,NM_006290 TNFAIP3,TNFAIP3,TNFAIP3 EXON Synonymous_A94A,Synonymous_A94A,Synonymous_A94A exm581505 6 138195991 [A/G] NM_001270507,NM_001270508,NM_006290 TNFAIP3,TNFAIP3,TNFAIP3 EXON Missense_N102S,Missense_N102S,Missense_N102S exm581507 6 138196029 [A/G] NM_001270507,NM_001270508,NM_006290 TNFAIP3,TNFAIP3,TNFAIP3 EXON Missense_V115I,Missense_V115I,Missense_V115I exm581509 6 138196060 [T/C] NM_001270507,NM_001270508,NM_006290 TNFAIP3,TNFAIP3,TNFAIP3 EXON Missense_A125V,Missense_A125V,Missense_A125V exm581510 6 138196066 [T/G] NM_001270507,NM_001270508,NM_006290 TNFAIP3,TNFAIP3,TNFAIP3 EXON Missense_F127C,Missense_F127C,Missense_F127C exm581523 6 138197139 [T/G] NM_001270507,NM_001270508,NM_006290 TNFAIP3,TNFAIP3,TNFAIP3 EXON Missense_M214R,Missense_M214R,Missense_M214R exm581531 6 138198246 [A/G] NM_001270507,NM_001270508,NM_006290 TNFAIP3,TNFAIP3,TNFAIP3 EXON Missense_R280Q,Missense_R280Q,Missense_R280Q exm-rs610604 6 138199417 [T/G] NM_001270507,NM_001270508,NM_006290 TNFAIP3,TNFAIP3,TNFAIP3 Silent,Silent,Silent exm581547 6 138199926 [G/C] NM_001270507,NM_001270508,NM_006290 TNFAIP3,TNFAIP3,TNFAIP3 EXON Missense_W448C,Missense_W448C,Missense_W448C exm581554 6 138199980 [C/G] NM_001270507,NM_001270508,NM_006290 TNFAIP3,TNFAIP3,TNFAIP3 EXON Missense_S466R,Missense_S466R,Missense_S466R exm581557 6 138200072 [A/G] NM_001270507,NM_001270508,NM_006290 TNFAIP3,TNFAIP3,TNFAIP3 EXON Missense_R497H,Missense_R497H,Missense_R497H exm581562 6 138200216 [T/C] NM_001270507,NM_001270508,NM_006290 TNFAIP3,TNFAIP3,TNFAIP3 EXON Missense_A545V,Missense_A545V,Missense_A545V exm581573 6 138200488 [T/C] NM_001270507,NM_001270508,NM_006290 TNFAIP3,TNFAIP3,TNFAIP3 EXON Missense_H636Y,Missense_H636Y,Missense_H636Y exm581575 6 138201240 [A/C] NM_001270507,NM_001270508,NM_006290 TNFAIP3,TNFAIP3,TNFAIP3 EXON Missense_T647P,Missense_T647P,Missense_T647P exm581581 6 138202173 [A/G] NM_001270507,NM_001270508,NM_006290 TNFAIP3,TNFAIP3,TNFAIP3 EXON Missense_R697K,Missense_R697K,Missense_R697K exm581587 6 138202314 [A/G] NM_001270507,NM_001270508,NM_006290 TNFAIP3,TNFAIP3,TNFAIP3 EXON Missense_G744D,Missense_G744D,Missense_G744D exm581588 6 138202329 [A/G] NM_001270507,NM_001270508,NM_006290 TNFAIP3,TNFAIP3,TNFAIP3 EXON Missense_R749Q,Missense_R749Q,Missense_R749Q exm581589 6 138202337 [T/C] NM_001270507,NM_001270508,NM_006290 TNFAIP3,TNFAIP3,TNFAIP3 EXON Missense_P752S,Missense_P752S,Missense_P752S exm581594 6 138202447 [A/G] NM_001270507,NM_001270508,NM_006290 TNFAIP3,TNFAIP3,TNFAIP3 EXON Missense_M788I,Missense_M788I,Missense_M788I exm581598 6 138413186 [A/G] NM_022121 PERP EXON Missense_S192F exm581599 6 138413213 [A/T] NM_022121 PERP EXON Missense_N183I exm2243228 6 138413237 [T/C] NM_022121 PERP EXON Missense_N175S exm581600 6 138413240 [A/G] NM_022121 PERP EXON Missense_P174L exm581605 6 138413333 [C/G] NM_022121 PERP EXON Missense_P143R exm581607 6 138413360 [A/G] NM_022121 PERP EXON Missense_T134I exm2266261 6 138427047 [A/G] NM_022121 PERP Silent exm581620 6 138428303 [T/C] NM_022121 PERP EXON Missense_G59R exm581621 6 138428353 [A/C] NM_022121 PERP EXON Missense_G42V exm581630 6 138491807 [A/G] NM_020340 KIAA1244 EXON Missense_G32S exm581635 6 138528235 [G/C] NM_020340 KIAA1244 EXON Missense_A65G exm581653 6 138539315 [A/G] NM_020340,NM_021635 KIAA1244,PBOV1 EXON Silent,Missense_I73T exm581654 6 138539327 [A/G] NM_020340,NM_021635 KIAA1244,PBOV1 EXON Silent,Missense_I69T exm581655 6 138539372 [T/C] NM_020340,NM_021635 KIAA1244,PBOV1 EXON Silent,Missense_R54Q exm581662 6 138539418 [T/G] NM_020340,NM_021635 KIAA1244,PBOV1 EXON Silent,Missense_L39I exm581673 6 138566719 [T/C] NM_020340 KIAA1244 EXON Missense_A219V exm581675 6 138575088 [T/C] NM_020340 KIAA1244 EXON Missense_M246T exm581689 6 138576868 [T/C] NM_020340 KIAA1244 EXON Missense_P356S exm2243229 6 138583859 [A/C] NM_020340 KIAA1244 EXON Missense_E413D exm581716 6 138584014 [G/C] NM_020340 KIAA1244 EXON Missense_A465G exm581719 6 138584092 [T/C] NM_020340 KIAA1244 EXON Missense_T491M exm581722 6 138584119 [A/G] NM_020340 KIAA1244 EXON Missense_S500N exm581731 6 138584380 [A/G] NM_020340 KIAA1244 EXON Missense_Y587C exm581744 6 138584685 [T/G] NM_020340 KIAA1244 EXON Missense_S689A exm581745 6 138584691 [T/C] NM_020340 KIAA1244 EXON Missense_S691P exm581746 6 138584706 [T/G] NM_020340 KIAA1244 EXON Missense_V696L exm581747 6 138584731 [T/C] NM_020340 KIAA1244 EXON Missense_A704V exm581770 6 138607922 [T/C] NM_020340 KIAA1244 EXON Missense_A885V exm581778 6 138608212 [T/C] NM_020340 KIAA1244 EXON Synonymous_G929G exm581805 6 138618025 [A/G] NM_020340 KIAA1244 EXON Missense_R1194Q exm581813 6 138619853 [T/G] NM_020340 KIAA1244 EXON Missense_N1253K exm581818 6 138628503 [A/G] NM_020340 KIAA1244 EXON Missense_M1314I exm581823 6 138632588 [A/G] NM_020340 KIAA1244 EXON Missense_G1381R exm581824 6 138632595 [T/C] NM_020340 KIAA1244 EXON Missense_P1383L exm2112401 6 138638442 [A/G] NM_020340 KIAA1244 EXON Missense_N1467S exm581840 6 138640920 [T/C] NM_020340 KIAA1244 EXON Missense_H1519Y exm2243237 6 138642307 [A/G] NM_020340 KIAA1244 EXON Missense_A1571T exm581856 6 138644833 [A/G] NM_020340 KIAA1244 EXON Missense_V1598M exm581875 6 138655223 [T/C] NM_020340 KIAA1244 EXON Missense_T1747M exm581878 6 138655262 [G/C] NM_020340 KIAA1244 EXON Missense_R1760T exm581884 6 138655393 [A/G] NM_020340 KIAA1244 EXON Missense_A1804T exm2243238 6 138655486 [A/G] NM_020340 KIAA1244 EXON Missense_E1835K exm581904 6 138655931 [A/G] NM_020340 KIAA1244 EXON Missense_G1983D exm2274193 6 138656073 [A/C] NM_020340 KIAA1244 EXON Missense_K2030N exm581914 6 138656075 [A/G] NM_020340 KIAA1244 EXON Missense_K2031R exm581922 6 138657442 [A/G] NM_020340 KIAA1244 EXON Missense_N2118S exm581941 6 138726283 [T/C] NM_014320 HEBP2 EXON Missense_P35L exm581942 6 138726318 [A/C] NM_014320 HEBP2 EXON Missense_K47Q exm2243245 6 138726365 [C/G] NM_014320 HEBP2 EXON Missense_I62M exm581943 6 138726394 [A/G] NM_014320 HEBP2 EXON Missense_Y72C exm581946 6 138727122 [A/G] NM_014320 HEBP2 EXON Missense_M85V exm581947 6 138727126 [T/C] NM_014320 HEBP2 EXON Missense_T86I exm581952 6 138727186 [T/C] NM_014320 HEBP2 EXON Missense_T106I exm581956 6 138727287 [T/C] NM_014320 HEBP2 EXON Missense_R140W exm2243246 6 138727288 [A/G] NM_014320 HEBP2 EXON Missense_R140Q exm581958 6 138734024 [A/G] NM_014320 HEBP2 EXON Missense_D143N exm581965 6 138734130 [A/G] NM_014320 HEBP2 EXON Missense_G178D exm581966 6 138734158 [A/T] NM_014320 HEBP2 EXON Missense_N187K exm581967 6 138734169 [A/C] NM_014320 HEBP2 EXON Missense_E191A exm581996 6 138751629 [C/G] NM_020464,NM_001144060 NHSL1,NHSL1 EXON Missense_P1289A,Missense_P1285A exm582005 6 138752051 [G/C] NM_020464,NM_001144060 NHSL1,NHSL1 EXON Missense_S1148T,Missense_S1144T exm582012 6 138752241 [T/C] NM_020464,NM_001144060 NHSL1,NHSL1 EXON Missense_V1085M,Missense_V1081M exm582027 6 138752841 [A/G] NM_020464,NM_001144060 NHSL1,NHSL1 EXON Missense_P885S,Missense_P881S exm582040 6 138753437 [A/C] NM_020464,NM_001144060 NHSL1,NHSL1 EXON Missense_R686L,Missense_R682L exm582048 6 138753849 [T/C] NM_020464,NM_001144060 NHSL1,NHSL1 EXON Missense_G549R,Missense_G545R exm582052 6 138754056 [T/C] NM_020464,NM_001144060 NHSL1,NHSL1 EXON Missense_A480T,Missense_A476T exm582053 6 138754081 [A/G] NM_020464,NM_001144060 NHSL1,NHSL1 EXON Synonymous_P471P,Synonymous_P467P exm2257555 6 138754081 [A/G] NM_020464,NM_001144060 NHSL1,NHSL1 EXON Synonymous_P471P,Synonymous_P467P exm582067 6 138754715 [T/C] NM_020464,NM_001144060 NHSL1,NHSL1 EXON Missense_R260H,Missense_R256H exm2243251 6 138763236 [T/C] NM_020464,NM_001144060 NHSL1,NHSL1 EXON Silent,Missense_R183H exm582073 6 138768300 [A/C] NM_020464,NM_001144060 NHSL1,NHSL1 EXON Missense_F172V,Missense_F124V exm582077 6 138794490 [A/G] NM_020464,NM_001144060 NHSL1,NHSL1 EXON Missense_P146S,Missense_P98S exm582082 6 138817509 [A/C] NM_020464,NM_001144060 NHSL1,NHSL1 Silent,Silent exm2262054 6 138876411 [T/C] NM_020464 NHSL1 Silent exm582092 6 139094890 [T/C] NM_015439 CCDC28A EXON Missense_L27F exm582093 6 139094906 [A/G] NM_015439 CCDC28A EXON Missense_R32H exm582094 6 139094917 [T/G] NM_015439 CCDC28A EXON Nonsense_E36X exm582096 6 139094936 [A/C] NM_015439 CCDC28A EXON Missense_S42Y exm582105 6 139097232 [T/C] NM_015439 CCDC28A EXON Missense_P82L exm582111 6 139097312 [A/C] NM_015439 CCDC28A EXON Missense_T109P exm582129 6 139106423 [T/C] NM_015439 CCDC28A EXON Missense_R218C exm582134 6 139106519 [A/G] NM_015439 CCDC28A Silent exm582140 6 139113926 [A/T] NM_015439 CCDC28A EXON Missense_T271S exm582142 6 139134423 [A/C] NM_001195037,NM_001077706 ECT2L,ECT2L EXON Missense_F4L,Missense_F4L exm2270414 6 139134754 [T/C] NM_001195037,NM_001077706 ECT2L,ECT2L Silent,Silent exm582149 6 139135706 [A/G] NM_001195037,NM_001077706 ECT2L,ECT2L EXON Missense_A49T,Missense_A49T exm582151 6 139159556 [T/C] NM_001195037,NM_001077706 ECT2L,ECT2L EXON Missense_R83C,Missense_R83C exm582154 6 139159581 [T/C] NM_001195037,NM_001077706 ECT2L,ECT2L EXON Missense_S91F,Missense_S91F exm582156 6 139159632 [A/G] NM_001195037,NM_001077706 ECT2L,ECT2L EXON Nonsense_W108X,Nonsense_W108X exm582161 6 139164200 [T/C] NM_001195037,NM_001077706 ECT2L,ECT2L EXON Missense_R143C,Missense_R143C exm582162 6 139164210 [T/C] NM_001195037,NM_001077706 ECT2L,ECT2L EXON Missense_I146T,Missense_I146T exm2112473 6 139164298 [A/G] NM_001195037,NM_001077706 ECT2L,ECT2L EXON Synonymous_E175E,Synonymous_E175E exm582168 6 139165602 [A/G] NM_001195037,NM_001077706 ECT2L,ECT2L EXON Missense_V217M,Missense_V217M exm2112479 6 139165719 [T/C] NM_001195037,NM_001077706 ECT2L,ECT2L Silent,Silent exm582178 6 139167750 [A/G] NM_001195037,NM_001077706 ECT2L,ECT2L EXON Missense_D280G,Missense_D280G exm582180 6 139167787 [A/C] NM_001195037,NM_001077706 ECT2L,ECT2L EXON Missense_L292F,Missense_L292F exm582181 6 139167807 [T/C] NM_001195037,NM_001077706 ECT2L,ECT2L EXON Missense_A299V,Missense_A299V exm582185 6 139170412 [A/G] NM_001195037,NM_001077706 ECT2L,ECT2L EXON Missense_M304V,Missense_M304V exm2112485 6 139170443 [T/C] NM_001195037,NM_001077706 ECT2L,ECT2L EXON Missense_V314A,Missense_V314A exm582187 6 139170460 [A/G] NM_001195037,NM_001077706 ECT2L,ECT2L EXON Missense_V320I,Missense_V320I exm582188 6 139170461 [T/C] NM_001195037,NM_001077706 ECT2L,ECT2L EXON Missense_V320A,Missense_V320A exm582190 6 139170526 [A/G] NM_001195037,NM_001077706 ECT2L,ECT2L EXON Missense_G342R,Missense_G342R exm2112488 6 139170553 [A/G] NM_001195037,NM_001077706 ECT2L,ECT2L EXON Missense_E351K,Missense_E351K exm582193 6 139175228 [A/T] NM_001195037,NM_001077706 ECT2L,ECT2L EXON Missense_S379C,Missense_S379C exm582194 6 139175238 [A/C] NM_001195037,NM_001077706 ECT2L,ECT2L EXON Missense_A382D,Missense_A382D exm582198 6 139183818 [T/C] NM_001195037,NM_001077706 ECT2L,ECT2L EXON Missense_T418M,Missense_T418M exm582207 6 139186159 [T/G] NM_001195037,NM_001077706 ECT2L,ECT2L EXON Missense_W440G,Missense_W440G exm2112499 6 139186286 [T/C] NM_001195037,NM_001077706 ECT2L,ECT2L EXON Missense_L482P,Missense_L482P exm582214 6 139186301 [A/G] NM_001195037,NM_001077706 ECT2L,ECT2L EXON Missense_S487N,Missense_S487N exm582223 6 139197609 [A/G] NM_001195037,NM_001077706 ECT2L,ECT2L EXON Missense_E527K,Missense_E527K exm582234 6 139202137 [T/C] NM_001195037,NM_001077706 ECT2L,ECT2L EXON Missense_V570A,Missense_V570A exm582235 6 139202154 [T/C] NM_001195037,NM_001077706 ECT2L,ECT2L EXON Nonsense_Q576X,Nonsense_Q576X exm582254 6 139206667 [T/C] NM_001195037,NM_001077706 ECT2L,ECT2L EXON Nonsense_R685X,Nonsense_R685X exm582256 6 139206698 [T/C] NM_001195037,NM_001077706 ECT2L,ECT2L EXON Missense_I695T,Missense_I695T exm582261 6 139206872 [A/G] NM_001195037,NM_001077706 ECT2L,ECT2L EXON Missense_A722T,Missense_A722T exm582262 6 139206888 [T/C] NM_001195037,NM_001077706 ECT2L,ECT2L EXON Missense_T727I,Missense_T727I exm582265 6 139206899 [T/C] NM_001195037,NM_001077706 ECT2L,ECT2L EXON Missense_H731Y,Missense_H731Y exm582268 6 139206935 [T/C] NM_001195037,NM_001077706 ECT2L,ECT2L EXON Nonsense_Q743X,Nonsense_Q743X exm582270 6 139208020 [A/T] NM_001195037,NM_001077706 ECT2L,ECT2L EXON Missense_D762E,Missense_D762E exm582284 6 139222224 [T/C] NM_001195037,NM_001077706 ECT2L,ECT2L EXON Missense_R852W,Missense_R852W exm582290 6 139223727 [T/C] NM_001195037,NM_001077706 ECT2L,ECT2L EXON Missense_V893A,Missense_V893A exm2274194 6 139223733 [A/G] NM_001195037,NM_001077706 ECT2L,ECT2L EXON Missense_R895Q,Missense_R895Q exm582300 6 139229814 [A/G] NM_031922,NM_001128617 REPS1,REPS1 EXON Missense_S735F,Missense_S709F exm582304 6 139229872 [T/C] NM_031922,NM_001128617 REPS1,REPS1 EXON Missense_V716I,Missense_V690I exm582308 6 139232424 [A/G] NM_031922,NM_001128617 REPS1,REPS1 EXON Missense_P685S,Missense_P659S exm582310 6 139232443 [T/G] NM_031922,NM_001128617 REPS1,REPS1 EXON Missense_E678D,Missense_E652D exm582313 6 139233903 [A/G] NM_031922,NM_001128617 REPS1,REPS1 EXON Missense_P656L,Missense_P630L exm582316 6 139233939 [T/C] NM_031922,NM_001128617 REPS1,REPS1 EXON Missense_Q644R,Missense_Q618R exm582318 6 139233946 [T/C] NM_031922,NM_001128617 REPS1,REPS1 EXON Missense_D642N,Missense_D616N exm2112542 6 139234030 [T/C] NM_031922,NM_001128617 REPS1,REPS1 EXON Missense_S614G,Missense_S588G exm582322 6 139234039 [T/C] NM_031922,NM_001128617 REPS1,REPS1 EXON Missense_T611A,Missense_T585A exm582323 6 139234084 [A/G] NM_031922,NM_001128617 REPS1,REPS1 EXON Missense_P596S,Missense_P570S exm582326 6 139235897 [T/C] NM_031922,NM_001128617 REPS1,REPS1 EXON Synonymous_G573G,Synonymous_G547G exm582337 6 139242175 [A/G] NM_031922,NM_001128617 REPS1,REPS1 EXON Synonymous_S475S,Synonymous_S448S exm582354 6 139265103 [A/C] NM_031922,NM_001128617 REPS1,REPS1 EXON Missense_I268S,Missense_I268S exm582361 6 139265717 [A/G] NM_031922,NM_001128617 REPS1,REPS1 EXON Missense_P224L,Missense_P224L exm582381 6 139266662 [A/C] NM_031922,NM_001128617 REPS1,REPS1 EXON Missense_Q150H,Missense_Q150H exm582383 6 139266669 [A/G] NM_031922,NM_001128617 REPS1,REPS1 EXON Missense_T148M,Missense_T148M exm582389 6 139266774 [T/G] NM_031922,NM_001128617 REPS1,REPS1 EXON Missense_A113E,Missense_A113E exm2266262 6 139285630 [A/G] NM_031922,NM_001128617 REPS1,REPS1 Silent,Silent exm582394 6 139355304 [A/G] NM_021243 ABRACL EXON Missense_V3M exm582399 6 139363921 [T/C] NM_021243 ABRACL EXON Missense_F43L exm2266345 6 139401474 [A/G] exm-rs2473517 6 139428758 [T/C] exm582437 6 139487936 [T/C] NM_016217 HECA EXON Missense_R263C exm2257558 6 139495658 [T/C] NM_016217 HECA EXON Synonymous_A483A exm2112594 6 139563677 [C/G] NM_153235 TXLNB EXON Missense_E681Q exm582484 6 139563767 [T/C] NM_153235 TXLNB EXON Missense_S651G exm582486 6 139563787 [A/G] NM_153235 TXLNB EXON Missense_M644T exm582492 6 139563884 [T/C] NM_153235 TXLNB EXON Missense_G612S exm582495 6 139563914 [G/C] NM_153235 TXLNB EXON Missense_A602P exm582496 6 139563937 [A/G] NM_153235 TXLNB EXON Missense_P594L exm582497 6 139563947 [T/C] NM_153235 TXLNB EXON Missense_E591K exm582506 6 139564007 [T/C] NM_153235 TXLNB EXON Missense_A571T exm582510 6 139564117 [C/G] NM_153235 TXLNB EXON Missense_A534G exm582518 6 139564226 [T/G] NM_153235 TXLNB EXON Missense_T498P exm582529 6 139569043 [T/C] NM_153235 TXLNB EXON Missense_T361A exm582531 6 139576736 [T/C] NM_153235 TXLNB EXON Missense_V348M exm582534 6 139581468 [T/C] NM_153235 TXLNB EXON Missense_R330Q exm582539 6 139583806 [C/G] NM_153235 TXLNB EXON Missense_Q264H exm582551 6 139591750 [T/C] NM_153235 TXLNB EXON Missense_R177H exm582553 6 139591762 [A/G] NM_153235 TXLNB EXON Missense_L173P exm582557 6 139598010 [A/G] NM_153235 TXLNB EXON Missense_P158L exm582558 6 139598043 [A/G] NM_153235 TXLNB EXON Missense_L147P exm582560 6 139609661 [T/C] NM_153235 TXLNB EXON Missense_V126I exm582562 6 139609687 [T/C] NM_153235 TXLNB EXON Missense_G117E exm582563 6 139609697 [T/C] NM_153235 TXLNB EXON Missense_V114I exm582567 6 139609718 [T/C] NM_153235 TXLNB EXON Missense_E107K exm582568 6 139609747 [T/C] NM_153235 TXLNB EXON Missense_N97S exm582570 6 139609841 [A/T] NM_153235 TXLNB EXON Missense_I66F exm582578 6 139610006 [T/C] NM_153235 TXLNB EXON Missense_A11T exm582587 6 139694435 [T/C] NM_001168388,NM_001168389,NM_006079 CITED2,CITED2,CITED2 EXON Missense_N216S,Missense_N221S,Missense_N216S exm582603 6 139694603 [A/T] NM_001168388,NM_001168389,NM_006079 CITED2,CITED2,CITED2 EXON Missense_H160L,Missense_H165L,Missense_H160L exm-rs605066 6 139829666 [T/C] exm-rs643381 6 139839423 [A/C] exm2266263 6 139960833 [A/G] exm2270415 6 140197079 [T/C] exm2266346 6 140219414 [A/G] exm-rs642858 6 140273647 [A/G] exm2270416 6 140942550 [T/C] exm2270417 6 141062414 [T/C] exm-rs11155133 6 141169825 [A/G] exm2270528 6 141443540 [T/C] exm2266264 6 141707045 [A/G] exm2270418 6 142022955 [T/C] exm582641 6 142396790 [T/G] NM_002511 NMBR EXON Missense_L390M exm2257564 6 142396878 [A/C] NM_002511 NMBR EXON Synonymous_V360V exm2257565 6 142396884 [T/C] NM_002511 NMBR EXON Synonymous_S358S exm582649 6 142396939 [T/C] NM_002511 NMBR EXON Missense_C340Y exm582650 6 142396979 [G/C] NM_002511 NMBR EXON Missense_L327V exm582652 6 142397002 [A/G] NM_002511 NMBR EXON Missense_V319A exm582653 6 142397005 [T/C] NM_002511 NMBR EXON Missense_C318Y exm582656 6 142397029 [T/C] NM_002511 NMBR EXON Missense_R310Q exm582657 6 142397030 [A/G] NM_002511 NMBR EXON Missense_R310W exm582659 6 142397042 [T/C] NM_002511 NMBR EXON Missense_T306A exm582660 6 142397048 [T/C] NM_002511 NMBR EXON Missense_I304V exm582665 6 142399709 [A/C] NM_002511 NMBR EXON Nonsense_E252X exm582666 6 142399736 [T/C] NM_002511 NMBR EXON Missense_A243T exm582671 6 142399822 [A/G] NM_002511 NMBR EXON Missense_V214A exm582674 6 142399873 [A/G] NM_002511 NMBR EXON Missense_A197V exm582677 6 142399907 [A/G] NM_002511 NMBR EXON Missense_R186C exm582681 6 142399964 [T/C] NM_002511 NMBR EXON Missense_I167V exm582682 6 142399987 [T/C] NM_002511 NMBR EXON Missense_R159Q exm582685 6 142400020 [T/G] NM_002511 NMBR EXON Missense_P148H exm582688 6 142400027 [T/C] NM_002511 NMBR EXON Missense_V146I exm582691 6 142409405 [T/C] NM_002511 NMBR EXON Missense_V131M exm582714 6 142409701 [C/G] NM_002511 NMBR EXON Missense_A32G exm582725 6 142468446 [A/C] NM_016485 VTA1 EXON Missense_P8T exm2243259 6 142468510 [A/G] NM_016485 VTA1 EXON Missense_K29R exm582737 6 142490816 [T/A] NM_016485 VTA1 Silent exm582751 6 142525141 [C/G] NM_016485 VTA1 EXON Missense_I239M exm582757 6 142525201 [C/G] NM_016485 VTA1 EXON Missense_Q259H exm582759 6 142539730 [A/G] NM_016485 VTA1 EXON Missense_V292I exm-rs225717 6 142548099 [T/C] exm2270419 6 142565531 [T/C] exm582764 6 142630763 [A/G] NM_198569,NM_001032394,NM_020455,NM_001032395 GPR126,GPR126,GPR126,GPR126 EXON Missense_M29V,Missense_M29V,Missense_M29V,Missense_M29V exm2262059 6 142679572 [A/G] NM_198569,NM_001032394,NM_020455,NM_001032395 GPR126,GPR126,GPR126,GPR126 Silent,Silent,Silent,Silent exm582765 6 142688742 [A/G] NM_198569,NM_001032394,NM_020455,NM_001032395 GPR126,GPR126,GPR126,GPR126 EXON Missense_N47S,Missense_N47S,Missense_N47S,Missense_N47S exm582768 6 142688804 [A/G] NM_198569,NM_001032394,NM_020455,NM_001032395 GPR126,GPR126,GPR126,GPR126 EXON Missense_M68V,Missense_M68V,Missense_M68V,Missense_M68V exm582769 6 142688811 [T/C] NM_198569,NM_001032394,NM_020455,NM_001032395 GPR126,GPR126,GPR126,GPR126 EXON Missense_T70M,Missense_T70M,Missense_T70M,Missense_T70M exm582779 6 142688969 [A/G] NM_198569,NM_001032394,NM_020455,NM_001032395 GPR126,GPR126,GPR126,GPR126 EXON Missense_S123G,Missense_S123G,Missense_S123G,Missense_S123G exm582781 6 142689042 [A/T] NM_198569,NM_001032394,NM_020455,NM_001032395 GPR126,GPR126,GPR126,GPR126 EXON Missense_I147N,Missense_I147N,Missense_I147N,Missense_I147N exm2257567 6 142691362 [T/C] NM_198569,NM_001032394,NM_020455,NM_001032395 GPR126,GPR126,GPR126,GPR126 EXON Synonymous_Y167Y,Synonymous_Y167Y,Synonymous_Y167Y,Synonymous_Y167Y exm582791 6 142691549 [A/C] NM_198569,NM_001032394,NM_020455,NM_001032395 GPR126,GPR126,GPR126,GPR126 EXON Missense_K230Q,Missense_K230Q,Missense_K230Q,Missense_K230Q exm582794 6 142691613 [A/G] NM_198569,NM_001032394,NM_020455,NM_001032395 GPR126,GPR126,GPR126,GPR126 EXON Missense_E251G,Missense_E251G,Missense_E251G,Missense_E251G exm582799 6 142691777 [T/G] NM_198569,NM_001032394,NM_020455,NM_001032395 GPR126,GPR126,GPR126,GPR126 EXON Missense_D306Y,Missense_D306Y,Missense_D306Y,Missense_D306Y exm582802 6 142691874 [A/T] NM_198569,NM_001032394,NM_020455,NM_001032395 GPR126,GPR126,GPR126,GPR126 EXON Missense_N338I,Missense_N338I,Missense_N338I,Missense_N338I exm-rs4896582 6 142703877 [A/G] NM_198569,NM_001032394,NM_020455,NM_001032395 GPR126,GPR126,GPR126,GPR126 Silent,Silent,Silent,Silent exm582820 6 142711468 [T/G] NM_198569,NM_001032394,NM_020455,NM_001032395 GPR126,GPR126,GPR126,GPR126 EXON Missense_K432N,Missense_K404N,Missense_K432N,Missense_K404N exm582823 6 142714116 [T/C] NM_198569,NM_001032394,NM_020455,NM_001032395 GPR126,GPR126,GPR126,GPR126 EXON Missense_T447M,Missense_T419M,Missense_T447M,Missense_T419M exm582825 6 142714127 [A/G] NM_198569,NM_001032394,NM_020455,NM_001032395 GPR126,GPR126,GPR126,GPR126 EXON Missense_V451I,Missense_V423I,Missense_V451I,Missense_V423I exm582832 6 142718850 [A/G] NM_198569,NM_001032394,NM_020455,NM_001032395 GPR126,GPR126,GPR126,GPR126 EXON Missense_D509N,Missense_D481N,Missense_D509N,Missense_D481N exm582834 6 142721636 [A/C] NM_198569,NM_001032394,NM_020455,NM_001032395 GPR126,GPR126,GPR126,GPR126 EXON Missense_M528L,Missense_M500L,Missense_M528L,Missense_M500L exm582836 6 142721674 [A/T] NM_198569,NM_001032394,NM_020455,NM_001032395 GPR126,GPR126,GPR126,GPR126 EXON Missense_Q540H,Missense_Q512H,Missense_Q540H,Missense_Q512H exm582840 6 142723175 [T/C] NM_198569,NM_001032394,NM_020455,NM_001032395 GPR126,GPR126,GPR126,GPR126 EXON Missense_V575A,Missense_V547A,Missense_V575A,Missense_V547A exm582843 6 142723795 [A/G] NM_198569,NM_001032394,NM_020455,NM_001032395 GPR126,GPR126,GPR126,GPR126 EXON Missense_T595A,Missense_T567A,Missense_T595A,Missense_T567A exm582844 6 142723802 [T/A] NM_198569,NM_001032394,NM_020455,NM_001032395 GPR126,GPR126,GPR126,GPR126 EXON Missense_D597V,Missense_D569V,Missense_D597V,Missense_D569V exm582851 6 142724940 [A/G] NM_198569,NM_001032394,NM_020455,NM_001032395 GPR126,GPR126,GPR126,GPR126 EXON Missense_A653T,Missense_A625T,Missense_A653T,Missense_A625T exm582867 6 142736125 [T/C] NM_198569,NM_001032394,NM_020455,NM_001032395 GPR126,GPR126,GPR126,GPR126 EXON Missense_S854L,Missense_S826L,Missense_S854L,Missense_S826L exm582873 6 142737048 [T/C] NM_198569,NM_001032394,NM_020455,NM_001032395 GPR126,GPR126,GPR126,GPR126 EXON Missense_L929F,Missense_L901F,Missense_L929F,Missense_L901F exm582881 6 142738443 [T/C] NM_198569,NM_001032394,NM_020455,NM_001032395 GPR126,GPR126,GPR126,GPR126 EXON Missense_A991V,Missense_A963V,Missense_A991V,Missense_A963V exm-rs3817928 6 142750516 [A/G] NM_198569,NM_001032394,NM_020455,NM_001032395 GPR126,GPR126,GPR126,GPR126 Silent,Silent,Silent,Silent exm582891 6 142758631 [A/G] NM_198569,NM_001032394,NM_020455,NM_001032395 GPR126,GPR126,GPR126,GPR126 EXON Missense_Q1127R,Missense_Q1099R,Missense_Q1127R,Missense_Q1099R exm582899 6 142759501 [C/G] NM_198569,NM_001032394,NM_020455,NM_001032395 GPR126,GPR126,GPR126,GPR126 EXON Missense_D1192H,Missense_D1164H,Missense_D1192H,Missense_D1164H exm582903 6 142764500 [T/C] NM_198569,NM_001032394,NM_020455,NM_001032395 GPR126,GPR126,GPR126,GPR126 EXON Missense_S1201P,Missense_V1188A,Missense_V1216A,Missense_S1173P exm-rs3748069 6 142767633 [A/G] exm-rs7763064 6 142797289 [A/G] exm582912 6 143074516 [A/G] NM_006734 HIVEP2 EXON Missense_P2357S exm582914 6 143074549 [A/G] NM_006734 HIVEP2 EXON Missense_L2346F exm582918 6 143074632 [T/G] NM_006734 HIVEP2 EXON Missense_T2318K exm582919 6 143074637 [T/G] NM_006734 HIVEP2 EXON Missense_N2316K exm582925 6 143074701 [A/G] NM_006734 HIVEP2 EXON Missense_P2295L exm582948 6 143081457 [A/G] NM_006734 HIVEP2 EXON Missense_C1990R exm582957 6 143081571 [T/C] NM_006734 HIVEP2 EXON Missense_A1952T exm582977 6 143089637 [T/G] NM_006734 HIVEP2 EXON Missense_L1742I exm582991 6 143091063 [C/G] NM_006734 HIVEP2 EXON Missense_V1605L exm582993 6 143091126 [T/G] NM_006734 HIVEP2 EXON Missense_S1584R exm583001 6 143091222 [A/G] NM_006734 HIVEP2 EXON Missense_P1552S exm583003 6 143091263 [A/G] NM_006734 HIVEP2 EXON Missense_L1538P exm583028 6 143091999 [T/G] NM_006734 HIVEP2 EXON Missense_L1293I exm583033 6 143092151 [T/C] NM_006734 HIVEP2 EXON Missense_Y1242C exm583034 6 143092154 [G/C] NM_006734 HIVEP2 EXON Missense_S1241T exm583042 6 143092416 [T/C] NM_006734 HIVEP2 EXON Missense_A1154T exm583060 6 143092754 [A/G] NM_006734 HIVEP2 EXON Missense_A1041V exm583074 6 143093136 [G/C] NM_006734 HIVEP2 EXON Missense_P914A exm583084 6 143093360 [T/C] NM_006734 HIVEP2 EXON Missense_S839N exm583088 6 143093415 [T/C] NM_006734 HIVEP2 EXON Missense_E821K exm2112784 6 143093592 [A/G] NM_006734 HIVEP2 EXON Missense_R762W exm583111 6 143093951 [T/C] NM_006734 HIVEP2 EXON Missense_R642Q exm583112 6 143094011 [A/G] NM_006734 HIVEP2 EXON Missense_S622F exm583121 6 143094124 [T/C] NM_006734 HIVEP2 EXON Missense_I584M exm583144 6 143094791 [A/G] NM_006734 HIVEP2 EXON Missense_S362L exm583145 6 143094841 [A/C] NM_006734 HIVEP2 EXON Missense_I345M exm583146 6 143094843 [T/C] NM_006734 HIVEP2 EXON Missense_I345V exm583158 6 143095398 [T/G] NM_006734 HIVEP2 EXON Missense_P160T exm583161 6 143095472 [C/G] NM_006734 HIVEP2 EXON Missense_S135C exm583173 6 143095629 [T/G] NM_006734 HIVEP2 EXON Missense_Q83K exm583174 6 143095633 [C/G] NM_006734 HIVEP2 EXON Missense_E81D exm583176 6 143095682 [A/C] NM_006734 HIVEP2 EXON Missense_G65V exm2270420 6 143122671 [T/C] NM_006734 HIVEP2 Silent exm-rs198683 6 143200547 [T/C] NM_006734 HIVEP2 Silent exm2266348 6 143429476 [A/G] NM_016108 AIG1 Silent exm583220 6 143749615 [A/T] NM_182503 ADAT2 EXON Missense_E187D exm583226 6 143753641 [A/C] NM_182503 ADAT2 Silent exm583234 6 143754985 [A/G] NM_182503 ADAT2 EXON Missense_A112V exm583240 6 143759773 [T/C] NM_182503 ADAT2 EXON Missense_N52S exm583245 6 143771704 [T/G] NM_182503 ADAT2 EXON Missense_H31P exm583254 6 143780309 [A/G] NM_003630 PEX3 EXON Missense_R54Q exm583257 6 143784092 [A/G] NM_003630 PEX3 EXON Missense_Q82R exm583264 6 143792536 [G/C] NM_003630 PEX3 EXON Missense_P158R exm583277 6 143800292 [T/C] NM_003630 PEX3 EXON Nonsense_R300X exm583279 6 143800309 [A/C] NM_003630 PEX3 EXON Missense_D305E exm583290 6 143816863 [G/C] NM_032020 FUCA2 EXON Missense_A462G exm2243271 6 143816920 [A/G] NM_032020 FUCA2 EXON Missense_V443A exm583294 6 143816923 [A/G] NM_032020 FUCA2 EXON Missense_M442T exm583295 6 143816924 [T/C] NM_032020 FUCA2 EXON Missense_M442V exm583299 6 143823085 [T/C] NM_032020 FUCA2 EXON Missense_V380I exm2112861 6 143823102 [T/C] NM_032020 FUCA2 EXON Missense_R374Q exm583302 6 143823112 [A/G] NM_032020 FUCA2 EXON Missense_H371Y exm583305 6 143823169 [A/G] NM_032020 FUCA2 EXON Nonsense_R352X exm583307 6 143823527 [T/G] NM_032020 FUCA2 EXON Missense_I310L exm583318 6 143825075 [A/G] NM_032020 FUCA2 EXON Missense_F243L exm583321 6 143825104 [T/G] NM_032020 FUCA2 EXON Missense_A233E exm583323 6 143825122 [A/G] NM_032020 FUCA2 EXON Missense_S227L exm583324 6 143825146 [T/A] NM_032020 FUCA2 EXON Missense_N219I exm583338 6 143825376 [A/C] NM_032020 FUCA2 EXON Missense_W142C exm2112870 6 143828518 [T/C] NM_032020 FUCA2 EXON Missense_M90V exm2266265 6 143872563 [A/G] exm583367 6 143929450 [A/G] NM_001100166,NM_014721 PHACTR2,PHACTR2 EXON Missense_D2N,Missense_D2N exm-rs6570569 6 143939639 [A/G] NM_001100166,NM_014721 PHACTR2,PHACTR2 Silent,Silent exm2270529 6 144038185 [T/C] NM_001100166,NM_014721,NM_001100164,NM_001100165 PHACTR2,PHACTR2,PHACTR2,PHACTR2 Silent,Silent,Silent,Silent exm583392 6 144081609 [T/C] NM_001100166,NM_014721,NM_001100164,NM_001100165 PHACTR2,PHACTR2,PHACTR2,PHACTR2 EXON Silent,Missense_P165S,Missense_P176S,Silent exm583394 6 144081643 [T/C] NM_001100166,NM_014721,NM_001100164,NM_001100165 PHACTR2,PHACTR2,PHACTR2,PHACTR2 EXON Silent,Missense_P176L,Missense_P187L,Silent exm583396 6 144081704 [A/T] NM_001100166,NM_014721,NM_001100164,NM_001100165 PHACTR2,PHACTR2,PHACTR2,PHACTR2 EXON Silent,Missense_N196K,Missense_N207K,Silent exm583412 6 144086665 [T/C] NM_001100166,NM_014721,NM_001100164,NM_001100165 PHACTR2,PHACTR2,PHACTR2,PHACTR2 EXON Missense_P230L,Missense_P310L,Missense_P321L,Missense_P241L exm583414 6 144086718 [A/C] NM_001100166,NM_014721,NM_001100164,NM_001100165 PHACTR2,PHACTR2,PHACTR2,PHACTR2 EXON Missense_P248T,Missense_P328T,Missense_P339T,Missense_P259T exm583415 6 144086721 [G/C] NM_001100166,NM_014721,NM_001100164,NM_001100165 PHACTR2,PHACTR2,PHACTR2,PHACTR2 EXON Missense_V249L,Missense_V329L,Missense_V340L,Missense_V260L exm2112894 6 144086883 [A/G] NM_001100166,NM_014721,NM_001100164,NM_001100165 PHACTR2,PHACTR2,PHACTR2,PHACTR2 EXON Missense_T303A,Missense_T383A,Missense_T394A,Missense_T314A exm583426 6 144086895 [T/C] NM_001100166,NM_014721,NM_001100164,NM_001100165 PHACTR2,PHACTR2,PHACTR2,PHACTR2 EXON Missense_S307P,Missense_S387P,Missense_S398P,Missense_S318P exm583435 6 144093589 [T/G] NM_001100166,NM_014721,NM_001100164,NM_001100165 PHACTR2,PHACTR2,PHACTR2,PHACTR2 EXON Missense_G385V,Missense_G465V,Missense_G476V,Missense_G396V exm583459 6 144165695 [T/C] NM_032860 LTV1 EXON Nonsense_R26X exm583461 6 144167195 [A/G] NM_032860 LTV1 EXON Missense_N48S exm583465 6 144167260 [T/C] NM_032860 LTV1 EXON Nonsense_Q70X exm2243274 6 144178914 [A/G] NM_032860 LTV1 EXON Missense_E189K exm583480 6 144178951 [A/G] NM_032860 LTV1 EXON Missense_N201S exm583482 6 144179041 [T/G] NM_032860 LTV1 EXON Missense_F231C exm2112932 6 144179144 [A/G] NM_032860 LTV1 EXON Synonymous_K265K exm2112937 6 144183246 [T/C] NM_032860 LTV1 EXON Missense_V310A exm583503 6 144183351 [A/G] NM_032860 LTV1 EXON Missense_K345R exm583504 6 144183353 [A/G] NM_032860 LTV1 EXON Missense_E346K exm583509 6 144184227 [A/C] NM_032860 LTV1 EXON Missense_K374T exm583510 6 144184235 [T/C] NM_032860 LTV1 EXON Nonsense_R377X exm583516 6 144184421 [A/G] NM_032860 LTV1 EXON Missense_K439E exm583517 6 144184557 [T/C] NM_032860 LTV1 EXON Nonsense_R441X exm583552 6 144263042 [T/G] NM_001080955,NM_001080953,NM_001080954,NM_001080956,NM_001080951,NM_001080952,NM_006718,NM_002656 PLAGL1,PLAGL1,PLAGL1,PLAGL1,PLAGL1,PLAGL1,PLAGL1,PLAGL1 EXON Missense_N252T,Missense_N304T,Missense_N304T,Missense_N252T,Missense_N304T,Missense_N304T,Missense_N304T,Missense_N252T exm583555 6 144263069 [A/G] NM_001080955,NM_001080953,NM_001080954,NM_001080956,NM_001080951,NM_001080952,NM_006718,NM_002656 PLAGL1,PLAGL1,PLAGL1,PLAGL1,PLAGL1,PLAGL1,PLAGL1,PLAGL1 EXON Missense_P243L,Missense_P295L,Missense_P295L,Missense_P243L,Missense_P295L,Missense_P295L,Missense_P295L,Missense_P243L exm583558 6 144263115 [C/G] NM_001080955,NM_001080953,NM_001080954,NM_001080956,NM_001080951,NM_001080952,NM_006718,NM_002656 PLAGL1,PLAGL1,PLAGL1,PLAGL1,PLAGL1,PLAGL1,PLAGL1,PLAGL1 EXON Missense_E228Q,Missense_E280Q,Missense_E280Q,Missense_E228Q,Missense_E280Q,Missense_E280Q,Missense_E280Q,Missense_E228Q exm583560 6 144263138 [A/G] NM_001080955,NM_001080953,NM_001080954,NM_001080956,NM_001080951,NM_001080952,NM_006718,NM_002656 PLAGL1,PLAGL1,PLAGL1,PLAGL1,PLAGL1,PLAGL1,PLAGL1,PLAGL1 EXON Missense_A220V,Missense_A272V,Missense_A272V,Missense_A220V,Missense_A272V,Missense_A272V,Missense_A272V,Missense_A220V exm2243277 6 144263274 [T/C] NM_001080955,NM_001080953,NM_001080954,NM_001080956,NM_001080951,NM_001080952,NM_006718,NM_002656 PLAGL1,PLAGL1,PLAGL1,PLAGL1,PLAGL1,PLAGL1,PLAGL1,PLAGL1 EXON Missense_T175A,Missense_T227A,Missense_T227A,Missense_T175A,Missense_T227A,Missense_T227A,Missense_T227A,Missense_T175A exm583566 6 144263312 [T/C] NM_001080955,NM_001080953,NM_001080954,NM_001080956,NM_001080951,NM_001080952,NM_006718,NM_002656 PLAGL1,PLAGL1,PLAGL1,PLAGL1,PLAGL1,PLAGL1,PLAGL1,PLAGL1 EXON Missense_E162G,Missense_E214G,Missense_E214G,Missense_E162G,Missense_E214G,Missense_E214G,Missense_E214G,Missense_E162G exm583571 6 144263532 [A/C] NM_001080955,NM_001080953,NM_001080954,NM_001080956,NM_001080951,NM_001080952,NM_006718,NM_002656 PLAGL1,PLAGL1,PLAGL1,PLAGL1,PLAGL1,PLAGL1,PLAGL1,PLAGL1 EXON Missense_A89S,Missense_A141S,Missense_A141S,Missense_A89S,Missense_A141S,Missense_A141S,Missense_A141S,Missense_A89S exm583580 6 144263591 [A/G] NM_001080955,NM_001080953,NM_001080954,NM_001080956,NM_001080951,NM_001080952,NM_006718,NM_002656 PLAGL1,PLAGL1,PLAGL1,PLAGL1,PLAGL1,PLAGL1,PLAGL1,PLAGL1 EXON Missense_T69I,Missense_T121I,Missense_T121I,Missense_T69I,Missense_T121I,Missense_T121I,Missense_T121I,Missense_T69I exm583585 6 144269264 [A/G] NM_001080955,NM_001080953,NM_001080954,NM_001080956,NM_001080951,NM_001080952,NM_006718,NM_002656 PLAGL1,PLAGL1,PLAGL1,PLAGL1,PLAGL1,PLAGL1,PLAGL1,PLAGL1 EXON Silent,Missense_F4L,Missense_F4L,Silent,Missense_F4L,Missense_F4L,Missense_F4L,Silent exm583599 6 144507790 [T/G] NM_003764 STX11 EXON Missense_L9R exm583601 6 144507847 [T/C] NM_003764 STX11 EXON Missense_S28L exm583604 6 144507910 [A/G] NM_003764 STX11 EXON Missense_R49Q exm583609 6 144507992 [C/G] NM_003764 STX11 EXON Missense_M76I exm583624 6 144508353 [A/G] NM_003764 STX11 EXON Missense_V197M exm583629 6 144508380 [A/G] NM_003764 STX11 EXON Missense_E206K exm583632 6 144508423 [T/G] NM_003764 STX11 EXON Missense_R220L exm583642 6 144508563 [A/G] NM_003764 STX11 EXON Missense_V267M exm583644 6 144508593 [A/G] NM_003764 STX11 EXON Missense_T277A exm583645 6 144508603 [A/G] NM_003764 STX11 EXON Missense_C280Y exm2264184 6 144600884 [A/C] exm583659 6 144743015 [A/G] NM_007124 UTRN EXON Missense_S48N exm583662 6 144743040 [A/G] NM_007124 UTRN EXON Missense_M56I exm583677 6 144747451 [T/C] NM_007124 UTRN EXON Missense_S145L exm583685 6 144747588 [G/C] NM_007124 UTRN EXON Missense_R191G exm583697 6 144750789 [A/T] NM_007124 UTRN EXON Missense_Q256L exm583700 6 144750873 [T/C] NM_007124 UTRN EXON Missense_I284T exm583715 6 144758881 [T/C] NM_007124 UTRN EXON Missense_R414W exm583720 6 144759933 [A/G] NM_007124 UTRN EXON Missense_A432T exm583724 6 144761542 [A/C] NM_007124 UTRN EXON Missense_M483L exm583733 6 144765462 [T/C] NM_007124 UTRN EXON Missense_R520C exm583735 6 144765490 [T/C] NM_007124 UTRN EXON Missense_I529T exm583742 6 144768755 [A/G] NM_007124 UTRN EXON Missense_M580I exm2113001 6 144768847 [A/G] NM_007124 UTRN EXON Missense_N611S exm583750 6 144769870 [T/G] NM_007124 UTRN EXON Missense_K679N exm2257574 6 144771845 [A/G] NM_007124 UTRN Silent exm583764 6 144780112 [T/C] NM_007124 UTRN EXON Missense_R831W exm583767 6 144780116 [A/C] NM_007124 UTRN EXON Missense_Q832P exm2113013 6 144780322 [A/C] NM_007124 UTRN EXON Missense_N847H exm583773 6 144780413 [A/G] NM_007124 UTRN EXON Missense_R877Q exm583776 6 144780437 [A/G] NM_007124 UTRN EXON Missense_R885H exm583778 6 144782354 [A/G] NM_007124 UTRN EXON Missense_H910R exm583780 6 144782376 [A/C] NM_007124 UTRN EXON Missense_K917N exm583786 6 144782462 [T/C] NM_007124 UTRN EXON Missense_A946V exm583797 6 144794909 [T/G] NM_007124 UTRN EXON Missense_M1040I exm583798 6 144794928 [A/G] NM_007124 UTRN EXON Missense_G1047R exm583803 6 144800952 [T/C] NM_007124 UTRN EXON Missense_A1114V exm2243279 6 144803399 [A/C] NM_007124 UTRN EXON Missense_N1188H exm583827 6 144808703 [A/G] NM_007124 UTRN EXON Missense_R1281H exm583828 6 144808720 [T/C] NM_007124 UTRN EXON Missense_R1287C exm583842 6 144811268 [A/G] NM_007124 UTRN EXON Missense_R1399H exm583843 6 144811319 [A/G] NM_007124 UTRN EXON Missense_Q1416R exm583848 6 144812186 [A/C] NM_007124 UTRN EXON Missense_D1462A exm583849 6 144812192 [A/G] NM_007124 UTRN EXON Missense_K1464R exm583861 6 144820481 [C/G] NM_007124 UTRN EXON Missense_S1561C exm583863 6 144820495 [A/G] NM_007124 UTRN EXON Missense_E1566K exm2113062 6 144832105 [T/G] NM_007124 UTRN EXON Missense_R1597I exm583874 6 144832189 [A/G] NM_007124 UTRN EXON Missense_R1625K exm583887 6 144835787 [A/G] NM_007124 UTRN EXON Missense_R1692H exm583888 6 144835835 [A/G] NM_007124 UTRN EXON Missense_R1708H exm583891 6 144835861 [T/G] NM_007124 UTRN EXON Missense_A1717S exm583893 6 144835942 [A/C] NM_007124 UTRN EXON Missense_I1744L exm583909 6 144838041 [A/G] NM_007124 UTRN EXON Missense_R1833H exm583912 6 144838068 [A/G] NM_007124 UTRN EXON Missense_R1842K exm583919 6 144843159 [A/G] NM_007124 UTRN EXON Missense_G1862E exm583922 6 144843208 [A/C] NM_007124 UTRN EXON Missense_K1878N exm583923 6 144843212 [A/T] NM_007124 UTRN EXON Missense_L1880I exm583924 6 144843240 [T/C] NM_007124 UTRN EXON Missense_S1889L exm583927 6 144843263 [A/C] NM_007124 UTRN EXON Missense_T1897P exm583931 6 144844187 [G/C] NM_007124 UTRN EXON Missense_Q1923H exm583934 6 144844317 [T/C] NM_007124 UTRN EXON Missense_R1967W exm2113080 6 144852187 [A/G] NM_007124 UTRN Silent exm583937 6 144852201 [A/G] NM_007124 UTRN EXON Missense_A1974T exm583943 6 144854281 [T/G] NM_007124 UTRN EXON Missense_D2040Y exm583947 6 144854353 [T/C] NM_007124 UTRN EXON Missense_R2064C exm583951 6 144860448 [A/G] NM_007124 UTRN EXON Missense_E2130K exm583952 6 144860488 [T/A] NM_007124 UTRN EXON Missense_E2143V exm583962 6 144869778 [T/C] NM_007124 UTRN EXON Missense_H2200Y exm583963 6 144869785 [A/G] NM_007124 UTRN EXON Missense_N2202S exm583964 6 144869811 [T/C] NM_007124 UTRN EXON Missense_S2211P exm2113089 6 144869823 [A/G] NM_007124 UTRN EXON Missense_I2215V exm583968 6 144869844 [A/G] NM_007124 UTRN EXON Missense_T2222A exm583969 6 144869859 [A/G] NM_007124 UTRN EXON Missense_I2227V exm583982 6 144875884 [A/G] NM_007124 UTRN EXON Missense_Q2330R exm2113096 6 144875958 [T/C] NM_007124 UTRN EXON Missense_Y2355H exm583996 6 144878377 [A/G] NM_007124 UTRN EXON Missense_S2407G exm584006 6 144898348 [T/C] NM_007124 UTRN EXON Missense_V2468A exm584014 6 144999569 [A/C] NM_007124 UTRN EXON Missense_N2503H exm584032 6 145021251 [T/C] NM_007124 UTRN EXON Missense_W2561R exm584037 6 145051554 [A/G] NM_007124 UTRN EXON Missense_R2624Q exm2113107 6 145051577 [A/G] NM_007124 UTRN EXON Missense_I2632V exm584040 6 145051599 [A/G] NM_007124 UTRN EXON Missense_R2639K exm584041 6 145069387 [A/G] NM_007124 UTRN EXON Missense_T2649A exm584045 6 145069561 [A/G] NM_007124 UTRN EXON Missense_M2707V exm584046 6 145069583 [A/G] NM_007124 UTRN EXON Missense_R2714Q exm584047 6 145069600 [A/G] NM_007124 UTRN EXON Missense_V2720M exm2266349 6 145091031 [A/G] NM_007124 UTRN Silent exm584073 6 145095491 [A/G] NM_007124 UTRN EXON Missense_A2875T exm-rs4243474 6 145096340 [A/G] NM_007124 UTRN Silent exm584090 6 145103227 [A/G] NM_007124 UTRN EXON Missense_M2934I exm2113132 6 145114993 [T/C] NM_007124 UTRN EXON Missense_P2982S exm584099 6 145115009 [A/T] NM_007124 UTRN EXON Missense_D2987V exm2113147 6 145156939 [A/G] NM_007124 UTRN EXON Missense_Q3230R exm584126 6 145156944 [T/C] NM_007124 UTRN EXON Missense_Y3232H exm584138 6 145157592 [A/G] NM_007124 UTRN EXON Missense_R3327Q exm2113154 6 145161932 [A/C] NM_007124 UTRN EXON Missense_M3412L exm584160 6 145161969 [A/G] NM_007124 UTRN Silent exm2270421 6 145406142 [T/G] exm2262062 6 145517407 [A/C] exm2270422 6 145677803 [T/C] exm584196 6 145948812 [A/G] NM_005670,NM_001018041 EPM2A,EPM2A EXON Missense_P246S,Missense_P246S exm584197 6 145948826 [T/C] NM_005670,NM_001018041 EPM2A,EPM2A EXON Missense_R241Q,Missense_R241Q exm584204 6 145956419 [A/G] NM_005670,NM_001018041 EPM2A,EPM2A EXON Missense_A227V,Missense_A227V exm584213 6 145956611 [T/C] NM_005670,NM_001018041 EPM2A,EPM2A EXON Missense_N163S,Missense_N163S exm584215 6 146007324 [T/C] NM_005670,NM_001018041 EPM2A,EPM2A EXON Missense_N137S,Missense_N137S exm584218 6 146007358 [T/C] NM_005670,NM_001018041 EPM2A,EPM2A EXON Missense_I126V,Missense_I126V exm584219 6 146056355 [T/C] NM_005670,NM_001018041,NR_038246 EPM2A,EPM2A,LOC100507557 EXON Missense_G94R,Missense_G94R,Silent exm584243 6 146121438 [T/C] NR_038246,NM_032145 LOC100507557,FBXO30 EXON Silent,Missense_R681Q exm584247 6 146125581 [T/C] NR_038246,NM_032145 LOC100507557,FBXO30 EXON Silent,Missense_R654H exm584253 6 146125793 [A/T] NR_038246,NM_032145 LOC100507557,FBXO30 EXON Silent,Missense_H583Q exm584256 6 146125834 [A/G] NR_038246,NM_032145 LOC100507557,FBXO30 EXON Silent,Missense_C570R exm2113179 6 146125915 [T/C] NR_038246,NM_032145 LOC100507557,FBXO30 EXON Silent,Missense_I543V exm584266 6 146126163 [A/G] NR_038246,NM_032145 LOC100507557,FBXO30 EXON Silent,Missense_T460I exm584269 6 146126193 [T/C] NR_038246,NM_032145 LOC100507557,FBXO30 EXON Silent,Missense_D450G exm584277 6 146126397 [G/C] NR_038246,NM_032145 LOC100507557,FBXO30 EXON Silent,Missense_S382C exm584278 6 146126419 [T/C] NR_038246,NM_032145 LOC100507557,FBXO30 EXON Silent,Missense_V375M exm584282 6 146126554 [A/G] NR_038246,NM_032145 LOC100507557,FBXO30 EXON Silent,Missense_S330P exm584288 6 146126580 [A/G] NR_038246,NM_032145 LOC100507557,FBXO30 EXON Silent,Missense_S321L exm584294 6 146126643 [A/T] NR_038246,NM_032145 LOC100507557,FBXO30 EXON Silent,Missense_N300I exm2243287 6 146127202 [T/C] NR_038246,NM_032145 LOC100507557,FBXO30 EXON Silent,Missense_V114I exm584314 6 146127255 [T/C] NR_038246,NM_032145 LOC100507557,FBXO30 EXON Silent,Missense_R96Q exm584318 6 146127351 [T/C] NR_038246,NM_032145 LOC100507557,FBXO30 EXON Silent,Missense_D64G exm584322 6 146127406 [A/C] NR_038246,NM_032145 LOC100507557,FBXO30 EXON Silent,Missense_A46S exm584343 6 146207919 [T/A] NM_173082,NM_001042683 SHPRH,SHPRH EXON Silent,Missense_T1654S exm2113191 6 146214448 [T/G] NM_173082,NM_001042683 SHPRH,SHPRH EXON Missense_I1597L,Missense_I1593L exm584353 6 146214523 [A/G] NM_173082,NM_001042683 SHPRH,SHPRH EXON Missense_L1572F,Missense_L1568F exm584355 6 146215306 [T/C] NM_173082,NM_001042683 SHPRH,SHPRH EXON Missense_S1563G,Missense_S1559G exm584378 6 146242378 [T/A] NM_173082,NM_001042683 SHPRH,SHPRH EXON Missense_H1315Q,Missense_H1311Q exm2274195 6 146242473 [T/C] NM_173082,NM_001042683 SHPRH,SHPRH EXON Missense_V1284M,Missense_V1280M exm584385 6 146243916 [T/C] NM_173082,NM_001042683 SHPRH,SHPRH EXON Missense_N1205S,Missense_N1201S exm584386 6 146243948 [A/C] NM_173082,NM_001042683 SHPRH,SHPRH EXON Missense_Q1194H,Missense_Q1190H exm584388 6 146243961 [T/C] NM_173082,NM_001042683 SHPRH,SHPRH EXON Silent,Missense_C1186Y exm584389 6 146243968 [A/G] NM_173082,NM_001042683 SHPRH,SHPRH EXON Silent,Missense_R1184C exm2257577 6 146256435 [T/C] NM_173082,NM_001042683 SHPRH,SHPRH EXON Synonymous_A904A,Synonymous_A904A exm584427 6 146262971 [T/G] NM_173082,NM_001042683 SHPRH,SHPRH EXON Missense_H760N,Missense_H760N exm584429 6 146263009 [A/G] NM_173082,NM_001042683 SHPRH,SHPRH EXON Missense_V747A,Missense_V747A exm584437 6 146264544 [T/C] NM_173082,NM_001042683 SHPRH,SHPRH EXON Missense_R658H,Missense_R658H exm584441 6 146264742 [A/C] NM_173082,NM_001042683 SHPRH,SHPRH EXON Missense_F592C,Missense_F592C exm2113224 6 146266684 [T/C] NM_173082,NM_001042683 SHPRH,SHPRH EXON Missense_I471V,Missense_I471V exm584467 6 146268741 [A/C] NM_173082,NM_001042683 SHPRH,SHPRH EXON Missense_L367R,Missense_L367R exm584480 6 146271534 [A/G] NM_173082,NM_001042683 SHPRH,SHPRH EXON Missense_T283I,Missense_T283I exm584482 6 146271570 [T/C] NM_173082,NM_001042683 SHPRH,SHPRH EXON Missense_Q271R,Missense_Q271R exm584484 6 146273614 [T/C] NM_173082,NM_001042683 SHPRH,SHPRH EXON Missense_V212I,Missense_V212I exm2113235 6 146275965 [T/C] NM_173082,NM_001042683 SHPRH,SHPRH EXON Missense_K165R,Missense_K165R exm584487 6 146275983 [T/G] NM_173082,NM_001042683 SHPRH,SHPRH EXON Missense_D159A,Missense_D159A exm584488 6 146275999 [T/G] NM_173082,NM_001042683 SHPRH,SHPRH EXON Missense_H154N,Missense_H154N exm584492 6 146276149 [A/C] NM_173082,NM_001042683 SHPRH,SHPRH EXON Missense_S104A,Missense_S104A exm2257578 6 146276168 [T/C] NM_173082,NM_001042683 SHPRH,SHPRH EXON Synonymous_V97V,Synonymous_V97V exm584497 6 146276204 [T/A] NM_173082,NM_001042683 SHPRH,SHPRH EXON Missense_K85N,Missense_K85N exm584499 6 146276263 [A/C] NM_173082,NM_001042683 SHPRH,SHPRH EXON Missense_A66S,Missense_A66S exm584500 6 146276280 [T/C] NM_173082,NM_001042683 SHPRH,SHPRH EXON Missense_S60N,Missense_S60N exm584502 6 146276305 [T/C] NM_173082,NM_001042683 SHPRH,SHPRH EXON Missense_A52T,Missense_A52T exm584505 6 146276370 [T/C] NM_173082,NM_001042683 SHPRH,SHPRH EXON Missense_R30K,Missense_R30K exm2266267 6 146394655 [A/G] NM_001114329,NM_000838 GRM1,GRM1 Silent,Silent exm584534 6 146480637 [A/G] NM_001114329,NM_000838 GRM1,GRM1 EXON Missense_R285K,Missense_R285K exm584536 6 146480705 [A/G] NM_001114329,NM_000838 GRM1,GRM1 EXON Missense_V308I,Missense_V308I exm584551 6 146625869 [A/G] NM_001114329,NM_000838 GRM1,GRM1 EXON Missense_R358K,Missense_R358K exm2270530 6 146652354 [T/C] NM_001114329,NM_000838 GRM1,GRM1 Silent,Silent exm584566 6 146678759 [A/C] NM_001114329,NM_000838 GRM1,GRM1 EXON Missense_K511Q,Missense_K511Q exm584583 6 146720157 [A/G] NM_001114329,NM_000838 GRM1,GRM1 EXON Missense_R661H,Missense_R661H exm584589 6 146720360 [A/C] NM_001114329,NM_000838 GRM1,GRM1 EXON Missense_P729T,Missense_P729T exm584602 6 146720756 [A/G] NM_001114329,NM_000838 GRM1,GRM1 EXON Missense_G861S,Missense_G861S exm584606 6 146720826 [A/G] NM_001114329,NM_000838 GRM1,GRM1 EXON Missense_G884E,Missense_G884E exm584608 6 146747720 [A/C] NM_001114329,NM_000838 GRM1,GRM1 EXON Missense_T896P,Silent exm584615 6 146755072 [A/C] NM_001114329,NM_000838 GRM1,GRM1 EXON Silent,Missense_M909L exm584616 6 146755073 [T/C] NM_001114329,NM_000838 GRM1,GRM1 EXON Silent,Missense_M909T exm584617 6 146755132 [A/G] NM_001114329,NM_000838 GRM1,GRM1 EXON Silent,Missense_V929I exm584626 6 146755324 [T/C] NM_001114329,NM_000838 GRM1,GRM1 EXON Silent,Missense_S993P exm584628 6 146755390 [T/C] NM_001114329,NM_000838 GRM1,GRM1 EXON Silent,Missense_P1015S exm584630 6 146755454 [T/G] NM_001114329,NM_000838 GRM1,GRM1 EXON Silent,Missense_G1036V exm584634 6 146755508 [A/G] NM_001114329,NM_000838 GRM1,GRM1 EXON Silent,Missense_G1054D exm584638 6 146755553 [T/C] NM_001114329,NM_000838 GRM1,GRM1 EXON Silent,Missense_P1069L exm584648 6 146755673 [A/G] NM_001114329,NM_000838 GRM1,GRM1 EXON Silent,Missense_Y1109C exm584650 6 146755690 [T/C] NM_001114329,NM_000838 GRM1,GRM1 EXON Silent,Missense_R1115W exm2257581 6 146865181 [A/C] NM_006834 RAB32 EXON Synonymous_I58I exm584668 6 146865210 [A/C] NM_006834 RAB32 EXON Missense_N68T exm2113298 6 146870601 [A/G] NM_006834 RAB32 EXON Synonymous_G84G exm584671 6 146870636 [A/G] NM_006834 RAB32 EXON Missense_Y96C exm584677 6 146870735 [T/A] NM_006834 RAB32 EXON Missense_H129L exm584687 6 146956514 [A/C] NM_024694 ADGB EXON Missense_F26L exm584711 6 146993445 [T/C] NM_024694 ADGB EXON Missense_I310T exm584712 6 146993525 [A/G] NM_024694 ADGB EXON Missense_K337E exm584713 6 146993573 [C/G] NM_024694 ADGB EXON Missense_A353P exm584716 6 146997491 [T/A] NM_024694 ADGB EXON Missense_D377V exm2243291 6 146997510 [C/G] NM_024694 ADGB EXON Missense_F383L exm2113306 6 147022135 [A/G] NM_024694 ADGB EXON Missense_V546I exm584724 6 147022162 [T/C] NM_024694 ADGB EXON Missense_H555Y exm584725 6 147022183 [A/C] NM_024694 ADGB EXON Missense_Q562K exm2113307 6 147038025 [T/A] NM_024694 ADGB EXON Missense_D583V exm584727 6 147038089 [T/G] NM_024694 ADGB EXON Missense_E604D exm584736 6 147045373 [T/C] NM_024694 ADGB EXON Missense_T716M exm584742 6 147047296 [T/C] NM_024694 ADGB EXON Missense_I772T exm584747 6 147054278 [A/G] NM_024694 ADGB EXON Missense_R848H exm584750 6 147055043 [A/G] NM_024694 ADGB EXON Missense_V891I exm584761 6 147067206 [A/G] NM_024694 ADGB EXON Missense_R1109Q exm584767 6 147085115 [T/G] NM_024694 ADGB EXON Missense_G1210V exm584770 6 147085204 [A/G] NM_024694 ADGB EXON Missense_T1240A exm584787 6 147109692 [T/G] NM_024694 ADGB EXON Missense_V1495L exm2274196 6 147109731 [T/C] NM_024694 ADGB EXON Missense_R1508W exm2274197 6 147123086 [T/C] NM_024694,NR_003954 ADGB,LOC729176 EXON Missense_I1586T,Silent exm584803 6 147136244 [A/G] NM_024694 ADGB EXON Missense_H1632R exm2270424 6 147396745 [T/C] NR_034115 STXBP5-AS1 Silent exm2266350 6 147435953 [A/G] NR_034115 STXBP5-AS1 Silent exm584813 6 147556386 [T/C] NM_139244,NM_001127715 STXBP5,STXBP5 EXON Synonymous_L83L,Synonymous_L83L exm584831 6 147599242 [A/C] NM_139244,NM_001127715 STXBP5,STXBP5 EXON Missense_H247P,Missense_H247P exm584838 6 147632604 [A/G] NM_139244,NM_001127715 STXBP5,STXBP5 EXON Synonymous_P362P,Synonymous_P362P exm584842 6 147635108 [G/C] NM_139244,NM_001127715 STXBP5,STXBP5 EXON Missense_L412V,Missense_L412V exm584852 6 147636753 [A/G] NM_139244,NM_001127715 STXBP5,STXBP5 EXON Missense_Y502C,Missense_Y502C exm584857 6 147636860 [A/G] NM_139244,NM_001127715 STXBP5,STXBP5 EXON Missense_E538K,Missense_E538K exm584865 6 147637538 [T/C] NM_139244,NM_001127715 STXBP5,STXBP5 EXON Synonymous_C599C,Synonymous_C599C exm584868 6 147646197 [A/G] NM_139244,NM_001127715 STXBP5,STXBP5 EXON Synonymous_L635L,Synonymous_L635L exm584870 6 147646218 [T/A] NM_139244,NM_001127715 STXBP5,STXBP5 EXON Synonymous_G642G,Synonymous_G642G exm584875 6 147648345 [A/G] NM_139244,NM_001127715 STXBP5,STXBP5 EXON Synonymous_L671L,Synonymous_L671L exm584897 6 147680320 [A/G] NM_139244,NM_001127715 STXBP5,STXBP5 EXON Synonymous_T766T,Synonymous_T802T exm584898 6 147680327 [A/C] NM_139244,NM_001127715 STXBP5,STXBP5 EXON Synonymous_R769R,Synonymous_R805R exm584901 6 147680359 [A/G] NM_139244,NM_001127715 STXBP5,STXBP5 EXON Synonymous_L779L,Synonymous_L815L exm584910 6 147684611 [T/C] NM_139244,NM_001127715 STXBP5,STXBP5 EXON Missense_R860W,Missense_R896W exm584916 6 147684819 [A/G] NM_139244,NM_001127715 STXBP5,STXBP5 EXON Missense_N929S,Missense_N965S exm2113348 6 147685274 [A/G] NM_139244,NM_001127715 STXBP5,STXBP5 EXON Missense_Y982C,Missense_Y1018C exm2264185 6 147699123 [A/C] NM_139244,NM_001127715 STXBP5,STXBP5 Silent,Silent exm-rs9373523 6 147701133 [T/G] NM_139244,NM_001127715 STXBP5,STXBP5 Silent,Silent exm584930 6 147703956 [A/T] NM_139244,NM_001127715 STXBP5,STXBP5 EXON Missense_Q1043L,Missense_Q1079L exm584936 6 147704113 [A/G] NM_139244,NM_001127715 STXBP5,STXBP5 EXON Synonymous_S1095S,Synonymous_S1131S exm584942 6 147830188 [A/G] NM_001030060 SAMD5 EXON Missense_D42N exm584954 6 147830416 [T/C] NM_001030060 SAMD5 EXON Missense_R118C exm584956 6 147830457 [T/G] NM_001030060 SAMD5 EXON Missense_K131N exm584963 6 147885570 [T/C] NM_001030060 SAMD5 EXON Missense_P167L exm584965 6 147885588 [A/G] NM_001030060 SAMD5 EXON Missense_R173H exm2270531 6 147987530 [T/C] exm2266268 6 148229629 [A/G] exm-rs1881826 6 148341758 [A/G] exm-rs6930576 6 148704954 [A/G] NM_015278 SASH1 Silent exm2113361 6 148711301 [T/C] NM_015278 SASH1 EXON Missense_A63V exm584986 6 148711366 [T/C] NM_015278 SASH1 EXON Missense_R85W exm584993 6 148761357 [A/G] NM_015278 SASH1 EXON Missense_R108Q exm584994 6 148761362 [G/C] NM_015278 SASH1 EXON Missense_Q110E exm585006 6 148789688 [G/C] NM_015278 SASH1 EXON Missense_L132V exm585014 6 148795255 [T/C] NM_015278 SASH1 EXON Missense_V175A exm585017 6 148808775 [A/G] NM_015278 SASH1 EXON Missense_R218Q exm585020 6 148808826 [T/C] NM_015278 SASH1 EXON Missense_T235M exm585030 6 148840713 [A/C] NM_015278 SASH1 EXON Missense_P298Q exm585032 6 148840728 [C/G] NM_015278 SASH1 EXON Missense_R303P exm585034 6 148840772 [A/G] NM_015278 SASH1 EXON Missense_D318N exm585040 6 148840917 [G/C] NM_015278 SASH1 EXON Missense_P366R exm585041 6 148840966 [G/C] NM_015278 SASH1 EXON Missense_Q382H exm585043 6 148840980 [T/C] NM_015278 SASH1 EXON Missense_S387F exm2113388 6 148841012 [A/G] NM_015278 SASH1 EXON Missense_G398R exm2270425 6 148841752 [T/C] NM_015278 SASH1 Silent exm585045 6 148846430 [A/G] NM_015278 SASH1 EXON Missense_T405A exm585074 6 148855006 [A/G] NM_015278 SASH1 EXON Missense_V612M exm585078 6 148855052 [A/G] NM_015278 SASH1 EXON Missense_R627H exm585088 6 148856037 [A/G] NM_015278 SASH1 EXON Missense_S699G exm585094 6 148864852 [T/C] NM_015278 SASH1 EXON Missense_S749L exm585097 6 148864892 [T/G] NM_015278 SASH1 EXON Missense_Q762H exm585104 6 148865065 [A/G] NM_015278 SASH1 EXON Missense_R820Q exm585113 6 148865257 [A/G] NM_015278 SASH1 EXON Missense_Q884R exm585116 6 148865364 [T/C] NM_015278 SASH1 EXON Missense_R920C exm2113413 6 148865532 [A/G] NM_015278 SASH1 EXON Missense_M976V exm585128 6 148865581 [T/G] NM_015278 SASH1 EXON Missense_S992I exm585130 6 148865601 [A/G] NM_015278 SASH1 EXON Missense_G999R exm585147 6 148865814 [T/C] NM_015278 SASH1 EXON Missense_L1070F exm585148 6 148865842 [T/C] NM_015278 SASH1 EXON Missense_P1079L exm585149 6 148865872 [A/G] NM_015278 SASH1 EXON Missense_R1089Q exm2257586 6 148865933 [A/G] NM_015278 SASH1 EXON Synonymous_T1109T exm585159 6 148867175 [A/G] NM_015278 SASH1 EXON Missense_A1125T exm585164 6 148867217 [T/C] NM_015278 SASH1 EXON Missense_R1139W exm585166 6 148867223 [A/G] NM_015278 SASH1 EXON Missense_V1141I exm2275228 6 148867282 [A/G] NM_015278 SASH1 EXON Synonymous_A1160A exm585172 6 148869462 [A/G] NM_015278 SASH1 EXON Missense_R1171Q exm585178 6 148869632 [A/G] NM_015278 SASH1 EXON Missense_I1228V exm585179 6 148869636 [T/G] NM_015278 SASH1 EXON Missense_R1229I exm2270426 6 148995849 [T/C] exm585182 6 149068576 [A/C] NM_005715 UST EXON Missense_K4Q exm585187 6 149068645 [A/G] NM_005715 UST EXON Missense_G27S exm585192 6 149068778 [T/C] NM_005715 UST EXON Missense_P71L exm585193 6 149068780 [T/C] NM_005715 UST EXON Missense_P72S exm585194 6 149068797 [A/C] NM_005715 UST EXON Missense_D77E exm585196 6 149208145 [T/C] NM_005715 UST EXON Missense_H91Y exm585198 6 149208157 [C/G] NM_005715 UST EXON Missense_P95A exm2266351 6 149217078 [A/G] NM_005715 UST Silent exm2257587 6 149262510 [T/C] NM_005715 UST EXON Synonymous_H129H exm-rs2500535 6 149329267 [A/G] NM_005715 UST Silent exm585219 6 149394969 [A/G] NM_005715 UST EXON Missense_E313G exm585223 6 149395110 [A/G] NM_005715 UST EXON Missense_R360H exm-rs7772697 6 149435111 [T/C] exm-rs636864 6 149525606 [T/C] exm-rs727979 6 149593920 [T/C] exm2270427 6 149685617 [T/C] NM_015093 TAB2 Silent exm585259 6 149699523 [T/C] NM_015093 TAB2 EXON Missense_H158Y exm585269 6 149699925 [A/G] NM_015093 TAB2 EXON Missense_T292A exm585283 6 149700359 [T/G] NM_015093 TAB2 EXON Missense_H436Q exm2257589 6 149700431 [A/G] NM_015093 TAB2 EXON Synonymous_T460T exm585293 6 149700612 [T/C] NM_015093 TAB2 EXON Missense_R521W exm585297 6 149700640 [A/C] NM_015093 TAB2 EXON Missense_A530D exm585306 6 149721528 [A/G] NM_015093,NM_001002255 TAB2,SUMO4 EXON Silent,Missense_M1V exm585307 6 149721529 [T/C] NM_015093,NM_001002255 TAB2,SUMO4 EXON Silent,Missense_M1T exm585309 6 149721554 [A/C] NM_015093,NM_001002255 TAB2,SUMO4 EXON Silent,Missense_E9D exm585318 6 149721690 [A/G] NM_015093,NM_001002255 TAB2,SUMO4 EXON Silent,Missense_V55M exm585322 6 149721799 [T/C] NM_015093,NM_001002255 TAB2,SUMO4 EXON Silent,Missense_T91M exm585324 6 149721815 [A/G] NM_015093,NM_001002255 TAB2,SUMO4 EXON Silent,Missense_X96W exm585360 6 149771932 [A/G] NM_207360 ZC3H12D EXON Missense_R491C exm585381 6 149777914 [T/G] NM_207360 ZC3H12D EXON Missense_Q190K exm585387 6 149783057 [T/C] NM_207360 ZC3H12D EXON Missense_D119N exm585390 6 149783095 [T/C] NM_207360 ZC3H12D EXON Missense_K106R exm585393 6 149795459 [A/G] NM_207360 ZC3H12D EXON Missense_P74L exm2113475 6 149795465 [T/C] NM_207360 ZC3H12D EXON Missense_R72H exm585394 6 149795471 [A/G] NM_207360 ZC3H12D EXON Missense_A70V exm-rs2341551 6 149814762 [A/G] exm585419 6 149826740 [T/C] NM_139126 PPIL4 EXON Missense_R443H exm585422 6 149833318 [A/G] NM_139126 PPIL4 EXON Synonymous_D400D exm2243303 6 149842276 [A/G] NM_139126 PPIL4 EXON Missense_M301T exm585434 6 149846300 [A/G] NM_139126 PPIL4 EXON Synonymous_Y283Y exm585438 6 149847819 [T/C] NM_139126 PPIL4 EXON Missense_I258V exm585455 6 149862510 [T/C] NM_139126 PPIL4 EXON Missense_I66V exm2276817 6 149862721 [A/G] NM_139126 PPIL4 EXON Synonymous_A24A exm585471 6 149893443 [T/C] NM_138785 GINM1 EXON Missense_T48I exm585480 6 149900005 [A/G] NM_138785 GINM1 EXON Missense_I109V exm585481 6 149900035 [A/T] NM_138785 GINM1 EXON Missense_W119R exm585484 6 149901006 [A/G] NM_138785 GINM1 EXON Missense_V156I exm585491 6 149903588 [T/G] NM_138785 GINM1 EXON Missense_W244G exm585493 6 149903597 [A/G] NM_138785 GINM1 EXON Missense_K247E exm585499 6 149911898 [G/C] NM_138785 GINM1 EXON Missense_P306R exm585516 6 149918301 [T/C] NM_007044,NM_001204076 KATNA1,KATNA1 EXON Missense_R392Q,Silent exm585518 6 149918748 [A/G] NM_007044,NM_001204076 KATNA1,KATNA1 EXON Missense_P349S,Missense_P273S exm585519 6 149918766 [T/C] NM_007044,NM_001204076 KATNA1,KATNA1 EXON Missense_T343A,Missense_T267A exm585523 6 149919476 [T/A] NM_007044,NM_001204076 KATNA1,KATNA1 EXON Missense_Y300F,Missense_Y224F exm585534 6 149944336 [C/G] NM_007044,NM_001204076 KATNA1,KATNA1 EXON Missense_R135T,Missense_R135T exm585538 6 149953931 [T/C] NM_007044,NM_001204076 KATNA1,KATNA1 EXON Missense_G95E,Missense_G95E exm585539 6 149953961 [A/G] NM_007044,NM_001204076 KATNA1,KATNA1 EXON Missense_A85V,Missense_A85V exm585562 6 149982881 [A/T] NR_073033,NM_004690 LATS1,LATS1 EXON Silent,Missense_D1126V exm585575 6 149997780 [T/C] NR_073033,NM_004690 LATS1,LATS1 EXON Silent,Missense_R896Q exm585595 6 150004286 [T/C] NR_073033,NM_004690,NM_001270519 LATS1,LATS1,LATS1 EXON Silent,Missense_V647I,Missense_V647I exm585597 6 150004369 [T/C] NR_073033,NM_004690,NM_001270519 LATS1,LATS1,LATS1 EXON Silent,Missense_K619R,Missense_K619R exm2113558 6 150004505 [T/C] NR_073033,NM_004690,NM_001270519 LATS1,LATS1,LATS1 EXON Silent,Missense_E574K,Missense_E574K exm585608 6 150004616 [T/C] NR_073033,NM_004690,NM_001270519 LATS1,LATS1,LATS1 EXON Silent,Missense_A537T,Missense_A537T exm585610 6 150004634 [A/G] NR_073033,NM_004690,NM_001270519 LATS1,LATS1,LATS1 EXON Silent,Missense_P531S,Missense_P531S exm585624 6 150005117 [A/G] NR_073033,NM_004690,NM_001270519 LATS1,LATS1,LATS1 EXON Silent,Missense_R370W,Missense_R370W exm2113565 6 150005386 [T/C] NR_073033,NM_004690,NM_001270519 LATS1,LATS1,LATS1 EXON Silent,Missense_N280S,Missense_N280S exm585632 6 150005429 [C/G] NR_073033,NM_004690,NM_001270519 LATS1,LATS1,LATS1 EXON Silent,Missense_P266A,Missense_P266A exm585637 6 150005515 [T/G] NR_073033,NM_004690,NM_001270519 LATS1,LATS1,LATS1 EXON Silent,Missense_P237Q,Missense_P237Q exm585641 6 150005615 [T/C] NR_073033,NM_004690,NM_001270519 LATS1,LATS1,LATS1 EXON Silent,Missense_S204G,Missense_S204G exm585642 6 150005650 [A/G] NR_073033,NM_004690,NM_001270519 LATS1,LATS1,LATS1 EXON Silent,Missense_P192L,Missense_P192L exm585647 6 150016243 [T/C] NR_073033,NM_004690,NM_001270519 LATS1,LATS1,LATS1 EXON Silent,Missense_A155T,Missense_A155T exm585648 6 150016254 [A/G] NR_073033,NM_004690,NM_001270519 LATS1,LATS1,LATS1 EXON Silent,Missense_M151T,Missense_M151T exm585649 6 150016290 [A/C] NR_073033,NM_004690,NM_001270519 LATS1,LATS1,LATS1 EXON Silent,Missense_S139I,Missense_S139I exm585650 6 150016315 [T/C] NR_073033,NM_004690,NM_001270519 LATS1,LATS1,LATS1 EXON Silent,Missense_I131V,Missense_I131V exm585654 6 150022959 [T/C] NR_073033,NM_004690,NM_001270519 LATS1,LATS1,LATS1 EXON Silent,Missense_N102D,Missense_N102D exm585655 6 150022974 [T/C] NR_073033,NM_004690,NM_001270519 LATS1,LATS1,LATS1 EXON Silent,Missense_S97G,Missense_S97G exm585657 6 150022977 [A/G] NR_073033,NM_004690,NM_001270519 LATS1,LATS1,LATS1 EXON Silent,Missense_R96W,Missense_R96W exm585674 6 150048232 [T/C] NM_198887 NUP43 EXON Missense_R339Q exm585682 6 150052778 [A/G] NM_198887 NUP43 EXON Missense_V295A exm585683 6 150052782 [T/C] NM_198887 NUP43 EXON Missense_D294N exm585690 6 150057748 [A/G] NM_198887 NUP43 EXON Nonsense_R217X exm585692 6 150059854 [A/G] NM_198887 NUP43 EXON Missense_T188I exm585704 6 150067105 [T/C] NM_198887 NUP43 EXON Missense_R72G exm585705 6 150067126 [A/G] NM_198887 NUP43 EXON Missense_H65Y exm585711 6 150067541 [T/A] NM_198887 NUP43 EXON Missense_T31S exm585714 6 150067625 [T/C] NM_198887 NUP43 EXON Missense_E3K exm585727 6 150071059 [G/C] NM_005389,NM_001252050,NM_001252052,NM_001252049,NM_001252053,NM_001252051 PCMT1,PCMT1,PCMT1,PCMT1,PCMT1,PCMT1 EXON Missense_A66P,Missense_A66P,Missense_A66P,Missense_A66P,Missense_A66P,Missense_A66P exm585737 6 150111116 [T/G] NM_005389,NM_001252050,NM_001252052,NM_001252049,NM_001252053,NM_001252051 PCMT1,PCMT1,PCMT1,PCMT1,PCMT1,PCMT1 EXON Missense_F131L,Silent,Silent,Missense_F131L,Missense_F131L,Missense_F96L exm585741 6 150114745 [A/G] NM_005389,NM_001252050,NM_001252052,NM_001252049,NM_001252053,NM_001252051 PCMT1,PCMT1,PCMT1,PCMT1,PCMT1,PCMT1 EXON Missense_V178I,Missense_V143I,Missense_V143I,Missense_V178I,Missense_V178I,Missense_V143I exm585742 6 150114761 [A/G] NM_005389,NM_001252050,NM_001252052,NM_001252049,NM_001252053,NM_001252051 PCMT1,PCMT1,PCMT1,PCMT1,PCMT1,PCMT1 EXON Missense_K183R,Missense_K148R,Missense_K148R,Missense_K183R,Missense_K183R,Missense_K148R exm585755 6 150141767 [T/C] NM_032832 LRP11 EXON Missense_R474Q exm585761 6 150141821 [A/G] NM_032832 LRP11 EXON Missense_A456V exm585767 6 150147424 [T/C] NM_032832 LRP11 EXON Missense_G442R exm585768 6 150147453 [A/G] NM_032832 LRP11 EXON Missense_I432T exm585777 6 150157416 [T/C] NM_032832 LRP11 EXON Missense_M353V exm585784 6 150158558 [T/C] NM_032832 LRP11 EXON Missense_D319N exm585785 6 150158578 [T/C] NM_032832 LRP11 EXON Missense_R312H exm585791 6 150164148 [A/G] NM_032832 LRP11 EXON Missense_T295I exm585793 6 150164190 [A/G] NM_032832 LRP11 EXON Missense_T281M exm585799 6 150164259 [A/C] NM_032832 LRP11 EXON Missense_V258G exm585808 6 150174278 [A/C] NM_032832 LRP11 EXON Missense_L211R exm585810 6 150174287 [A/G] NM_032832 LRP11 EXON Missense_A208V exm585815 6 150184882 [C/G] NM_032832,NR_045126 LRP11,LOC100652739 EXON Missense_P92R,Silent exm585825 6 150209717 [C/G] NR_045126,NM_001243328,NM_001243325,NM_139165 LOC100652739,RAET1E,RAET1E,RAET1E EXON Silent,Silent,Missense_V201L,Missense_V237L exm585833 6 150210526 [T/C] NR_045126,NM_001243328,NM_001243325,NM_139165,NM_001243327 LOC100652739,RAET1E,RAET1E,RAET1E,RAET1E EXON Silent,Missense_R194G,Missense_R158G,Missense_R194G,Missense_R194G exm2113635 6 150210544 [T/C] NR_045126,NM_001243328,NM_001243325,NM_139165,NM_001243327 LOC100652739,RAET1E,RAET1E,RAET1E,RAET1E EXON Silent,Missense_D188N,Missense_D152N,Missense_D188N,Missense_D188N exm585840 6 150210681 [A/G] NR_045126,NM_001243328,NM_001243325,NM_139165,NM_001243327 LOC100652739,RAET1E,RAET1E,RAET1E,RAET1E EXON Silent,Missense_T142I,Missense_T106I,Missense_T142I,Missense_T142I exm585841 6 150210685 [T/C] NR_045126,NM_001243328,NM_001243325,NM_139165,NM_001243327 LOC100652739,RAET1E,RAET1E,RAET1E,RAET1E EXON Silent,Missense_A141T,Missense_A105T,Missense_A141T,Missense_A141T exm585843 6 150210723 [T/C] NR_045126,NM_001243328,NM_001243325,NM_139165,NM_001243327 LOC100652739,RAET1E,RAET1E,RAET1E,RAET1E EXON Silent,Missense_R128H,Missense_R92H,Missense_R128H,Missense_R128H exm585849 6 150211071 [T/C] NR_045126,NM_001243328,NM_001243325,NM_139165,NM_001243327 LOC100652739,RAET1E,RAET1E,RAET1E,RAET1E EXON Silent,Missense_R99Q,Missense_R63Q,Missense_R99Q,Missense_R99Q exm2257591 6 150211100 [T/C] NR_045126,NM_001243328,NM_001243325,NM_139165,NM_001243327 LOC100652739,RAET1E,RAET1E,RAET1E,RAET1E EXON Silent,Synonymous_E89E,Synonymous_E53E,Synonymous_E89E,Synonymous_E89E exm585853 6 150211123 [T/A] NR_045126,NM_001243328,NM_001243325,NM_139165,NM_001243327 LOC100652739,RAET1E,RAET1E,RAET1E,RAET1E EXON Silent,Missense_Y82N,Missense_Y46N,Missense_Y82N,Missense_Y82N exm585857 6 150211189 [T/G] NR_045126,NM_001243328,NM_001243325,NM_139165,NM_001243327 LOC100652739,RAET1E,RAET1E,RAET1E,RAET1E EXON Silent,Missense_L60I,Silent,Missense_L60I,Missense_L60I exm585859 6 150211242 [A/G] NR_045126,NM_001243328,NM_001243325,NM_139165,NM_001243327,NR_045127 LOC100652739,RAET1E,RAET1E,RAET1E,RAET1E,LOC100652739 EXON Silent,Missense_L42S,Silent,Missense_L42S,Missense_L42S,Silent exm585862 6 150211953 [A/C] NR_045126,NM_001243328,NM_001243325,NM_139165,NM_001243327,NR_045127 LOC100652739,RAET1E,RAET1E,RAET1E,RAET1E,LOC100652739 EXON Silent,Missense_G29C,Silent,Missense_G29C,Missense_G29C,Silent exm585864 6 150212003 [T/C] NR_045126,NM_001243328,NM_001243325,NM_139165,NM_001243327,NR_045127 LOC100652739,RAET1E,RAET1E,RAET1E,RAET1E,LOC100652739 EXON Silent,Missense_R12H,Missense_R12H,Missense_R12H,Missense_R12H,Silent exm585866 6 150212034 [A/G] NR_045126,NM_001243328,NM_001243325,NM_139165,NM_001243327,NR_045127 LOC100652739,RAET1E,RAET1E,RAET1E,RAET1E,LOC100652739 EXON Silent,Nonsense_R2X,Nonsense_R2X,Nonsense_R2X,Nonsense_R2X,Silent exm585884 6 150239308 [A/G] NR_045126,NR_045127,NM_001001788 LOC100652739,LOC100652739,RAET1G Silent,Silent,Silent exm585886 6 150239348 [T/A] NR_045126,NR_045127,NM_001001788 LOC100652739,LOC100652739,RAET1G EXON Silent,Silent,Missense_H268Q exm585895 6 150239484 [T/C] NR_045126,NR_045127,NM_001001788 LOC100652739,LOC100652739,RAET1G EXON Silent,Silent,Missense_R223K exm585902 6 150240233 [A/G] NR_045126,NR_045127,NM_001001788 LOC100652739,LOC100652739,RAET1G EXON Silent,Silent,Missense_W193R exm585912 6 150240380 [T/C] NR_045126,NR_045127,NM_001001788 LOC100652739,LOC100652739,RAET1G EXON Silent,Silent,Missense_D144N exm585915 6 150240415 [T/C] NR_045126,NR_045127,NM_001001788 LOC100652739,LOC100652739,RAET1G EXON Silent,Silent,Missense_E132G exm585938 6 150263216 [G/C] NM_025217 ULBP2 EXON Missense_A3G exm2243313 6 150267598 [T/C] NM_025217 ULBP2 EXON Missense_I147T exm2275229 6 150267791 [T/C] NM_025217 ULBP2 Silent exm585990 6 150285262 [A/G] NM_025218 ULBP1 EXON Missense_G26E exm586006 6 150289958 [A/C] NM_025218 ULBP1 EXON Missense_L101I exm586032 6 150291283 [A/G] NM_025218 ULBP1 EXON Silent exm-rs1853665 6 150298842 [T/C] exm2266352 6 150303241 [A/G] exm586043 6 150342097 [T/C] NM_130900 RAET1L EXON Missense_G192E exm586052 6 150342203 [T/C] NM_130900 RAET1L EXON Missense_M157V exm586054 6 150342221 [A/G] NM_130900 RAET1L EXON Missense_F151L exm-rs9479482 6 150358012 [T/C] exm2257593 6 150381667 [T/G] exm586098 6 150385837 [A/G] NM_024518 ULBP3 EXON Missense_M214T exm586115 6 150386729 [T/C] NM_024518 ULBP3 EXON Missense_D145N exm586117 6 150386752 [T/C] NM_024518 ULBP3 EXON Missense_R137H exm586126 6 150387059 [A/C] NM_024518 ULBP3 EXON Nonsense_E110X exm586137 6 150387297 [A/G] NM_024518 ULBP3 EXON Synonymous_D30D exm586145 6 150390195 [G/C] NM_024518 ULBP3 EXON Missense_A3G exm2270429 6 150525260 [T/C] NM_030949 PPP1R14C Silent exm586168 6 150569937 [T/C] NM_030949 PPP1R14C EXON Missense_P160L exm-rs1591830 6 150651900 [A/G] exm586185 6 150710490 [A/G] NM_001164694,NM_203395,NM_001164695 IYD,IYD,IYD EXON Missense_A61T,Missense_A61T,Missense_A61T exm586186 6 150710548 [A/C] NM_001164694,NM_203395,NM_001164695 IYD,IYD,IYD EXON Missense_H80P,Missense_H80P,Missense_H80P exm586191 6 150710632 [A/G] NM_001164694,NM_203395,NM_001164695 IYD,IYD,IYD EXON Missense_N108S,Missense_N108S,Missense_N108S exm586194 6 150710658 [A/G] NM_001164694,NM_203395,NM_001164695 IYD,IYD,IYD EXON Missense_D117N,Missense_D117N,Missense_D117N exm586196 6 150710674 [T/C] NM_001164694,NM_203395,NM_001164695 IYD,IYD,IYD EXON Missense_T122M,Missense_T122M,Missense_T122M exm586209 6 150715308 [A/G] NM_001164694,NM_203395,NM_001164695 IYD,IYD,IYD EXON Missense_A202T,Missense_A202T,Missense_A202T exm586212 6 150716533 [T/A] NM_001164694,NM_203395,NM_001164695 IYD,IYD,IYD EXON Silent,Silent,Missense_F231I exm586215 6 150716651 [T/C] NM_001164694,NM_203395,NM_001164695 IYD,IYD,IYD EXON Missense_P250S,Silent,Silent exm586217 6 150716673 [A/G] NM_001164694,NM_203395,NM_001164695 IYD,IYD,IYD EXON Missense_C257Y,Silent,Silent exm586218 6 150716696 [T/C] NM_001164694,NM_203395,NM_001164695 IYD,IYD,IYD EXON Missense_C265R,Silent,Silent exm586219 6 150716697 [A/G] NM_001164694,NM_203395,NM_001164695 IYD,IYD,IYD EXON Missense_C265Y,Silent,Silent exm586223 6 150719240 [A/G] NM_001164694,NM_203395,NM_001164695 IYD,IYD,IYD EXON Synonymous_S283S,Missense_R246Q,Silent exm586225 6 150719265 [T/C] NM_001164694,NM_203395,NM_001164695 IYD,IYD,IYD EXON Missense_R292C,Synonymous_P254P,Silent exm586229 6 150719314 [A/G] NM_001164694,NM_203395,NM_001164695 IYD,IYD,IYD EXON Silent,Missense_E271K,Silent exm586249 6 151055031 [T/C] NM_001029884 PLEKHG1 EXON Missense_P72S exm586254 6 151055053 [T/C] NM_001029884 PLEKHG1 EXON Missense_A79V exm586259 6 151055113 [G/C] NM_001029884 PLEKHG1 EXON Missense_P99R exm586260 6 151055119 [A/C] NM_001029884 PLEKHG1 EXON Missense_T101K exm586265 6 151055194 [A/G] NM_001029884 PLEKHG1 EXON Missense_R126K exm586278 6 151121859 [A/G] NM_001029884 PLEKHG1 EXON Missense_V212M exm586287 6 151121958 [T/C] NM_001029884 PLEKHG1 EXON Missense_L245F exm586316 6 151140892 [C/G] NM_001029884 PLEKHG1 EXON Missense_R464G exm586317 6 151140896 [T/G] NM_001029884 PLEKHG1 EXON Missense_L465R exm586319 6 151142342 [T/C] NM_001029884 PLEKHG1 EXON Missense_R474W exm586334 6 151151811 [A/G] NM_001029884 PLEKHG1 EXON Missense_V522M exm586342 6 151151896 [A/G] NM_001029884 PLEKHG1 EXON Missense_Q550R exm586358 6 151152250 [A/G] NM_001029884 PLEKHG1 EXON Missense_D668G exm586361 6 151152276 [A/G] NM_001029884 PLEKHG1 EXON Missense_E677K exm586365 6 151152382 [G/C] NM_001029884 PLEKHG1 EXON Missense_S712C exm586367 6 151152390 [A/G] NM_001029884 PLEKHG1 EXON Missense_A715T exm586369 6 151152397 [T/C] NM_001029884 PLEKHG1 EXON Missense_T717I exm586371 6 151152433 [T/A] NM_001029884 PLEKHG1 EXON Missense_Q729L exm586377 6 151152573 [A/G] NM_001029884 PLEKHG1 EXON Missense_V776M exm586380 6 151152607 [A/G] NM_001029884 PLEKHG1 EXON Missense_Q787R exm586388 6 151152691 [T/C] NM_001029884 PLEKHG1 EXON Missense_S815F exm586393 6 151152805 [T/C] NM_001029884 PLEKHG1 EXON Missense_A853V exm586394 6 151152813 [T/C] NM_001029884 PLEKHG1 EXON Missense_R856C exm2113791 6 151152942 [T/C] NM_001029884 PLEKHG1 EXON Missense_L899F exm586405 6 151152954 [A/G] NM_001029884 PLEKHG1 EXON Missense_V903M exm586416 6 151153089 [A/G] NM_001029884 PLEKHG1 EXON Missense_D948N exm2257595 6 151161018 [A/G] NM_001029884 PLEKHG1 EXON Synonymous_R1048R exm586436 6 151161018 [A/G] NM_001029884 PLEKHG1 EXON Synonymous_R1048R exm586437 6 151161053 [T/C] NM_001029884 PLEKHG1 EXON Missense_A1060V exm586438 6 151161086 [T/C] NM_001029884 PLEKHG1 EXON Missense_V1071A exm586440 6 151161116 [A/G] NM_001029884 PLEKHG1 EXON Missense_G1081E exm586450 6 151161245 [T/C] NM_001029884 PLEKHG1 EXON Missense_S1124F exm586454 6 151161307 [T/C] NM_001029884 PLEKHG1 EXON Missense_C1145R exm586458 6 151161345 [T/G] NM_001029884 PLEKHG1 EXON Missense_W1157C exm586461 6 151161377 [A/G] NM_001029884 PLEKHG1 EXON Missense_R1168Q exm586462 6 151161383 [T/G] NM_001029884 PLEKHG1 EXON Missense_G1170V exm586481 6 151161826 [A/G] NM_001029884 PLEKHG1 EXON Missense_G1318S exm586482 6 151161836 [T/C] NM_001029884 PLEKHG1 EXON Missense_L1321S exm586485 6 151161872 [T/C] NM_001029884 PLEKHG1 EXON Missense_P1333L exm586489 6 151162004 [A/C] NM_001029884 PLEKHG1 EXON Missense_Q1377P exm586499 6 151197310 [A/G] NM_015440,NM_001242769,NM_001242767,NM_001242768 MTHFD1L,MTHFD1L,MTHFD1L,MTHFD1L EXON Synonymous_Q104Q,Synonymous_Q104Q,Synonymous_Q104Q,Synonymous_Q38Q exm2266269 6 151199071 [A/G] NM_015440,NM_001242769,NM_001242767,NM_001242768 MTHFD1L,MTHFD1L,MTHFD1L,MTHFD1L Silent,Silent,Silent,Silent exm2113816 6 151203901 [A/G] NM_015440,NM_001242769,NM_001242767,NM_001242768 MTHFD1L,MTHFD1L,MTHFD1L,MTHFD1L EXON Missense_I141V,Missense_I141V,Missense_I141V,Missense_I75V exm-rs11754661 6 151207078 [A/G] NM_015440,NM_001242769,NM_001242767,NM_001242768 MTHFD1L,MTHFD1L,MTHFD1L,MTHFD1L Silent,Silent,Silent,Silent exm586522 6 151239713 [A/G] NM_015440,NM_001242767,NM_001242768 MTHFD1L,MTHFD1L,MTHFD1L EXON Missense_G298E,Missense_G299E,Missense_G233E exm2257596 6 151247299 [A/G] NM_015440,NM_001242767,NM_001242768 MTHFD1L,MTHFD1L,MTHFD1L EXON Missense_D375G,Missense_D376G,Missense_D310G exm2257597 6 151247337 [A/G] NM_015440,NM_001242767,NM_001242768 MTHFD1L,MTHFD1L,MTHFD1L EXON Missense_I388V,Missense_I389V,Missense_I323V exm586534 6 151247370 [T/C] NM_015440,NM_001242767,NM_001242768 MTHFD1L,MTHFD1L,MTHFD1L EXON Missense_R399C,Missense_R400C,Missense_R334C exm2274199 6 151247371 [A/G] NM_015440,NM_001242767,NM_001242768 MTHFD1L,MTHFD1L,MTHFD1L EXON Missense_R399H,Missense_R400H,Missense_R334H exm-rs6922269 6 151252985 [A/G] NM_015440,NM_001242767,NM_001242768 MTHFD1L,MTHFD1L,MTHFD1L Silent,Silent,Silent exm586543 6 151257985 [T/C] NM_015440,NM_001242767,NM_001242768 MTHFD1L,MTHFD1L,MTHFD1L EXON Synonymous_I434I,Synonymous_I435I,Synonymous_I369I exm586547 6 151258068 [T/G] NM_015440,NM_001242767,NM_001242768 MTHFD1L,MTHFD1L,MTHFD1L EXON Missense_G462V,Missense_G463V,Missense_G397V exm586563 6 151265717 [A/G] NM_015440,NM_001242767,NM_001242768 MTHFD1L,MTHFD1L,MTHFD1L EXON Synonymous_T512T,Synonymous_T513T,Synonymous_T447T exm586574 6 151270181 [A/T] NM_015440,NM_001242767,NM_001242768 MTHFD1L,MTHFD1L,MTHFD1L EXON Missense_N546K,Missense_N547K,Missense_N481K exm586578 6 151270219 [A/G] NM_015440,NM_001242767,NM_001242768 MTHFD1L,MTHFD1L,MTHFD1L EXON Missense_S559N,Missense_S560N,Missense_S494N exm586580 6 151270231 [A/G] NM_015440,NM_001242767,NM_001242768 MTHFD1L,MTHFD1L,MTHFD1L EXON Missense_R563H,Missense_R564H,Missense_R498H exm586582 6 151270258 [T/C] NM_015440,NM_001242767,NM_001242768 MTHFD1L,MTHFD1L,MTHFD1L EXON Missense_T572M,Missense_T573M,Missense_T507M exm586591 6 151281426 [A/G] NM_015440,NM_001242767,NM_001242768 MTHFD1L,MTHFD1L,MTHFD1L EXON Missense_A607T,Missense_A608T,Missense_A542T exm2262071 6 151327848 [A/G] NM_015440,NM_001242767,NM_001242768 MTHFD1L,MTHFD1L,MTHFD1L Silent,Silent,Silent exm586613 6 151334926 [T/G] NM_015440,NM_001242767,NM_001242768 MTHFD1L,MTHFD1L,MTHFD1L EXON Synonymous_G759G,Synonymous_G760G,Synonymous_G694G exm586614 6 151334947 [T/C] NM_015440,NM_001242767,NM_001242768 MTHFD1L,MTHFD1L,MTHFD1L EXON Synonymous_Y766Y,Synonymous_Y767Y,Synonymous_Y701Y exm2274200 6 151336663 [A/G] NM_015440,NM_001242767,NM_001242768 MTHFD1L,MTHFD1L,MTHFD1L EXON Missense_R807H,Missense_R808H,Missense_R742H exm2257599 6 151358184 [G/C] NM_015440,NM_001242767,NM_001242768 MTHFD1L,MTHFD1L,MTHFD1L EXON Missense_D926E,Missense_D927E,Missense_D861E exm2257600 6 151592056 [T/G] NM_005100 AKAP12 Silent exm586674 6 151626933 [A/G] NM_005100 AKAP12 EXON Missense_D72N exm586675 6 151626965 [A/T] NM_005100 AKAP12 EXON Missense_N82K exm2275917 6 151626987 [A/G] NM_005100 AKAP12 EXON Missense_G90S exm586679 6 151647019 [A/C] NM_005100,NM_144497 AKAP12,AKAP12 EXON Silent,Synonymous_T8T exm2264215 6 151660477 [A/C] NM_005100,NM_144497 AKAP12,AKAP12 Silent,Silent exm586681 6 151669875 [A/G] NM_005100,NM_144497 AKAP12,AKAP12 EXON Missense_K117E,Missense_K19E exm586682 6 151669923 [A/G] NM_005100,NM_144497 AKAP12,AKAP12 EXON Missense_D133N,Missense_D35N exm586686 6 151670025 [G/C] NM_005100,NM_144497 AKAP12,AKAP12 EXON Missense_A167P,Missense_A69P exm586693 6 151670172 [A/C] NM_005100,NM_144497 AKAP12,AKAP12 EXON Missense_K216Q,Missense_K118Q exm586698 6 151670199 [A/G] NM_005100,NM_144497 AKAP12,AKAP12 EXON Missense_A225T,Missense_A127T exm586700 6 151670241 [T/C] NM_005100,NM_144497 AKAP12,AKAP12 EXON Missense_P239S,Missense_P141S exm586702 6 151670259 [T/C] NM_005100,NM_144497 AKAP12,AKAP12 EXON Missense_R245C,Missense_R147C exm586706 6 151670287 [T/C] NM_005100,NM_144497 AKAP12,AKAP12 EXON Missense_P254L,Missense_P156L exm586710 6 151670338 [A/G] NM_005100,NM_144497 AKAP12,AKAP12 EXON Missense_E271G,Missense_E173G exm586717 6 151670449 [A/G] NM_005100,NM_144497 AKAP12,AKAP12 EXON Missense_R308H,Missense_R210H exm586723 6 151670568 [A/G] NM_005100,NM_144497 AKAP12,AKAP12 EXON Missense_E348K,Missense_E250K exm586725 6 151670586 [A/G] NM_005100,NM_144497 AKAP12,AKAP12 EXON Missense_E354K,Missense_E256K exm586730 6 151670656 [T/C] NM_005100,NM_144497 AKAP12,AKAP12 EXON Missense_V377A,Missense_V279A exm2257601 6 151670690 [A/G] NM_005100,NM_144497 AKAP12,AKAP12 EXON Synonymous_S388S,Synonymous_S290S exm586747 6 151670943 [A/G] NM_005100,NM_144497 AKAP12,AKAP12 EXON Missense_G473R,Missense_G375R exm586749 6 151670970 [G/C] NM_005100,NM_144497 AKAP12,AKAP12 EXON Missense_L482V,Missense_L384V exm586767 6 151671259 [A/G] NM_005100,NM_144497 AKAP12,AKAP12 EXON Missense_C578Y,Missense_C480Y exm586771 6 151671365 [A/C] NM_005100,NM_144497 AKAP12,AKAP12 EXON Missense_F613L,Missense_F515L exm586773 6 151671382 [A/C] NM_005100,NM_144497 AKAP12,AKAP12 EXON Missense_P619H,Missense_P521H exm586777 6 151671523 [T/C] NM_005100,NM_144497 AKAP12,AKAP12 EXON Missense_P666L,Missense_P568L exm2113889 6 151671541 [A/G] NM_005100,NM_144497 AKAP12,AKAP12 EXON Missense_K672R,Missense_K574R exm586783 6 151671616 [T/C] NM_005100,NM_144497 AKAP12,AKAP12 EXON Missense_S697F,Missense_S599F exm586784 6 151671634 [T/G] NM_005100,NM_144497 AKAP12,AKAP12 EXON Missense_G703V,Missense_G605V exm586787 6 151671718 [T/G] NM_005100,NM_144497 AKAP12,AKAP12 EXON Missense_G731V,Missense_G633V exm586789 6 151671747 [A/C] NM_005100,NM_144497 AKAP12,AKAP12 EXON Missense_S741R,Missense_S643R exm586793 6 151671826 [T/C] NM_005100,NM_144497 AKAP12,AKAP12 EXON Missense_T767M,Missense_T669M exm586794 6 151671871 [A/C] NM_005100,NM_144497 AKAP12,AKAP12 EXON Missense_D782A,Missense_D684A exm586808 6 151672151 [C/G] NM_005100,NM_144497 AKAP12,AKAP12 EXON Missense_K875N,Missense_K777N exm586813 6 151672185 [T/A] NM_005100,NM_144497 AKAP12,AKAP12 EXON Missense_S887C,Missense_S789C exm586816 6 151672216 [T/C] NM_005100,NM_144497 AKAP12,AKAP12 EXON Missense_A897V,Missense_A799V exm586820 6 151672285 [A/G] NM_005100,NM_144497 AKAP12,AKAP12 EXON Missense_E920G,Missense_E822G exm586824 6 151672399 [C/G] NM_005100,NM_144497 AKAP12,AKAP12 EXON Missense_R958T,Missense_R860T exm586826 6 151672413 [A/G] NM_005100,NM_144497 AKAP12,AKAP12 EXON Missense_D963N,Missense_D865N exm2243327 6 151672417 [T/C] NM_005100,NM_144497 AKAP12,AKAP12 EXON Missense_T964M,Missense_T866M exm586828 6 151672432 [T/C] NM_005100,NM_144497 AKAP12,AKAP12 EXON Missense_A969V,Missense_A871V exm586834 6 151672500 [A/G] NM_005100,NM_144497 AKAP12,AKAP12 EXON Missense_E992K,Missense_E894K exm586838 6 151672573 [T/C] NM_005100,NM_144497 AKAP12,AKAP12 EXON Missense_T1016I,Missense_T918I exm586840 6 151672638 [T/C] NM_005100,NM_144497 AKAP12,AKAP12 EXON Missense_R1038W,Missense_R940W exm586850 6 151672774 [T/C] NM_005100,NM_144497 AKAP12,AKAP12 EXON Missense_A1083V,Missense_A985V exm586853 6 151672812 [A/G] NM_005100,NM_144497 AKAP12,AKAP12 EXON Missense_V1096I,Missense_V998I exm586855 6 151672914 [A/G] NM_005100,NM_144497 AKAP12,AKAP12 EXON Missense_I1130V,Missense_I1032V exm586857 6 151672950 [A/G] NM_005100,NM_144497 AKAP12,AKAP12 EXON Missense_E1142K,Missense_E1044K exm586858 6 151673014 [T/C] NM_005100,NM_144497 AKAP12,AKAP12 EXON Missense_V1163A,Missense_V1065A exm586862 6 151673070 [A/G] NM_005100,NM_144497 AKAP12,AKAP12 EXON Missense_A1182T,Missense_A1084T exm586863 6 151673074 [G/C] NM_005100,NM_144497 AKAP12,AKAP12 EXON Missense_P1183R,Missense_P1085R exm586871 6 151673179 [A/T] NM_005100,NM_144497 AKAP12,AKAP12 EXON Missense_K1218I,Missense_K1120I exm586880 6 151673413 [T/G] NM_005100,NM_144497 AKAP12,AKAP12 EXON Missense_R1296L,Missense_R1198L exm586887 6 151673577 [A/G] NM_005100,NM_144497 AKAP12,AKAP12 EXON Missense_T1351A,Missense_T1253A exm586888 6 151673589 [A/G] NM_005100,NM_144497 AKAP12,AKAP12 EXON Missense_E1355K,Missense_E1257K exm586894 6 151673663 [A/T] NM_005100,NM_144497 AKAP12,AKAP12 EXON Missense_N1379K,Missense_N1281K exm586897 6 151673701 [T/C] NM_005100,NM_144497 AKAP12,AKAP12 EXON Missense_L1392S,Missense_L1294S exm586898 6 151673787 [G/C] NM_005100,NM_144497 AKAP12,AKAP12 EXON Missense_L1421V,Missense_L1323V exm2113903 6 151673848 [A/G] NM_005100,NM_144497 AKAP12,AKAP12 EXON Missense_G1441D,Missense_G1343D exm586901 6 151673871 [A/G] NM_005100,NM_144497 AKAP12,AKAP12 EXON Missense_A1449T,Missense_A1351T exm586908 6 151674043 [T/C] NM_005100,NM_144497 AKAP12,AKAP12 EXON Missense_T1506I,Missense_T1408I exm586915 6 151674196 [C/G] NM_005100,NM_144497 AKAP12,AKAP12 EXON Missense_A1557G,Missense_A1459G exm586918 6 151674213 [T/C] NM_005100,NM_144497 AKAP12,AKAP12 EXON Missense_R1563C,Missense_R1465C exm586924 6 151674270 [A/G] NM_005100,NM_144497 AKAP12,AKAP12 EXON Missense_V1582M,Missense_V1484M exm586929 6 151674326 [A/C] NM_005100,NM_144497 AKAP12,AKAP12 EXON Missense_E1600D,Missense_E1502D exm586931 6 151674387 [A/G] NM_005100,NM_144497 AKAP12,AKAP12 EXON Missense_T1621A,Missense_T1523A exm586935 6 151674593 [T/G] NM_005100,NM_144497 AKAP12,AKAP12 EXON Missense_E1689D,Missense_E1591D exm586941 6 151674775 [A/G] NM_005100,NM_144497 AKAP12,AKAP12 EXON Missense_K1750R,Missense_K1652R exm2113912 6 151674887 [A/G] NM_005100,NM_144497 AKAP12,AKAP12 EXON Silent,Silent exm-rs11155787 6 151686905 [T/C] NM_020861 ZBTB2 EXON Synonymous_E432E exm586966 6 151687197 [A/G] NM_020861 ZBTB2 EXON Missense_S335L exm586978 6 151687537 [T/G] NM_020861 ZBTB2 EXON Missense_L222M exm586999 6 151688004 [T/G] NM_020861 ZBTB2 EXON Missense_T66N exm587009 6 151726381 [T/C] NM_001271937,NM_017909 RMND1,RMND1 EXON Missense_V277I,Missense_V447I exm587010 6 151726399 [T/G] NM_001271937,NM_017909 RMND1,RMND1 EXON Missense_M271L,Missense_M441L exm2113929 6 151738516 [A/C] NM_001271937,NM_017909 RMND1,RMND1 EXON Missense_S196R,Missense_S366R exm587027 6 151738529 [T/C] NM_001271937,NM_017909 RMND1,RMND1 EXON Missense_R192H,Missense_R362H exm587034 6 151744739 [A/T] NM_001271937,NM_017909 RMND1,RMND1 EXON Missense_E116D,Missense_E286D exm587035 6 151744745 [G/C] NM_001271937,NM_017909 RMND1,RMND1 EXON Missense_R114S,Missense_R284S exm587038 6 151748618 [G/C] NM_001271937,NM_017909 RMND1,RMND1 EXON Missense_E107Q,Missense_E277Q exm587039 6 151748652 [G/C] NM_001271937,NM_017909 RMND1,RMND1 EXON Missense_H95Q,Missense_H265Q exm2243329 6 151748653 [T/C] NM_001271937,NM_017909 RMND1,RMND1 EXON Missense_H95R,Missense_H265R exm587042 6 151751289 [T/C] NM_001271937,NM_017909 RMND1,RMND1 EXON Missense_N68S,Missense_N238S exm587045 6 151754311 [A/G] NM_001271937,NM_017909 RMND1,RMND1 EXON Missense_P53L,Missense_P223L exm587046 6 151754323 [T/C] NM_001271937,NM_017909 RMND1,RMND1 EXON Missense_K49R,Missense_K219R exm2113958 6 151789596 [T/C] NM_024573 C6orf211 EXON Missense_M226T exm587097 6 151789598 [A/G] NM_024573 C6orf211 EXON Missense_E227K exm587098 6 151789608 [A/G] NM_024573 C6orf211 EXON Nonsense_W230X exm587099 6 151789653 [T/C] NM_024573 C6orf211 EXON Missense_A245V exm587102 6 151789709 [A/G] NM_024573 C6orf211 EXON Missense_I264V exm587106 6 151789799 [A/G] NM_024573 C6orf211 EXON Missense_I294V exm587107 6 151789868 [A/G] NM_024573 C6orf211 EXON Missense_A317T exm587111 6 151789976 [T/C] NM_024573 C6orf211 EXON Missense_Y353H exm587112 6 151790003 [A/G] NM_024573 C6orf211 EXON Missense_I362V exm587116 6 151790096 [T/C] NM_024573 C6orf211 EXON Missense_H393Y exm587133 6 151857472 [T/C] NM_025059 CCDC170 EXON Missense_S26L exm587138 6 151859192 [T/C] NM_025059 CCDC170 EXON Nonsense_R67X exm587146 6 151865707 [A/C] NM_025059 CCDC170 EXON Missense_Q148H exm587150 6 151865790 [A/G] NM_025059 CCDC170 EXON Missense_R176H exm587154 6 151869451 [A/C] NM_025059 CCDC170 EXON Missense_R201S exm587155 6 151869452 [A/G] NM_025059 CCDC170 EXON Missense_R201H exm587157 6 151869617 [T/G] NM_025059 CCDC170 EXON Missense_L256R exm2113979 6 151894414 [T/G] NM_025059 CCDC170 EXON Nonsense_E294X exm587167 6 151894499 [A/G] NM_025059 CCDC170 EXON Missense_Q322R exm587168 6 151894505 [T/C] NM_025059 CCDC170 EXON Missense_F324S exm2113980 6 151894510 [T/C] NM_025059 CCDC170 EXON Missense_F326L exm587171 6 151894567 [A/G] NM_025059 CCDC170 EXON Missense_E345K exm-rs4870044 6 151901409 [T/C] NM_025059 CCDC170 Silent exm587176 6 151907027 [A/G] NM_025059 CCDC170 EXON Missense_V366I exm587177 6 151907028 [T/C] NM_025059 CCDC170 EXON Missense_V366A exm587180 6 151907084 [A/G] NM_025059 CCDC170 EXON Missense_G385R exm587181 6 151907109 [A/G] NM_025059 CCDC170 EXON Missense_R393K exm587183 6 151907127 [A/G] NM_025059 CCDC170 EXON Missense_N399S exm-rs3757318 6 151914113 [A/G] NM_025059 CCDC170 Silent exm587189 6 151914258 [T/A] NM_025059 CCDC170 EXON Missense_D437V exm2113984 6 151914299 [A/G] NM_025059 CCDC170 EXON Missense_E451K exm587195 6 151914326 [A/G] NM_025059 CCDC170 EXON Missense_V460M exm587196 6 151914338 [T/C] NM_025059 CCDC170 EXON Nonsense_R464X exm587197 6 151914339 [A/G] NM_025059 CCDC170 EXON Missense_R464Q exm587198 6 151914357 [A/G] NM_025059 CCDC170 EXON Missense_R470H exm587200 6 151914385 [A/C] NM_025059 CCDC170 EXON Missense_N479K exm587212 6 151917569 [T/G] NM_025059 CCDC170 EXON Missense_A523S exm587216 6 151917596 [T/C] NM_025059 CCDC170 EXON Missense_H532Y exm587217 6 151917597 [T/A] NM_025059 CCDC170 EXON Missense_H532L exm587222 6 151917660 [A/G] NM_025059 CCDC170 EXON Missense_R553Q exm587223 6 151917687 [A/G] NM_025059 CCDC170 EXON Missense_K562R exm-rs1038304 6 151933175 [A/G] NM_025059 CCDC170 Silent exm587226 6 151936638 [T/G] NM_025059 CCDC170 EXON Nonsense_E591X exm587228 6 151936704 [T/C] NM_025059 CCDC170 EXON Missense_H613Y exm587230 6 151936711 [A/C] NM_025059 CCDC170 EXON Missense_A615D exm587238 6 151939139 [C/G] NM_025059 CCDC170 EXON Missense_A669P exm587239 6 151939181 [A/G] NM_025059 CCDC170 EXON Missense_V683I exm587241 6 151939215 [A/C] NM_025059 CCDC170 EXON Missense_A694D exm-rs3734805 6 151939350 [A/C] NM_025059 CCDC170 EXON Silent exm-rs7752591 6 151947068 [A/G] exm-rs2046210 6 151948366 [A/G] exm-rs2941740 6 152009638 [A/G] exm-rs12525163 6 152040291 [T/C] NM_001122742 ESR1 Silent exm-rs1999805 6 152068364 [A/G] NM_001122742 ESR1 Silent exm-rs2504063 6 152090707 [A/G] NM_001122742 ESR1 Silent exm-rs543650 6 152110943 [T/G] NM_001122742 ESR1 Silent exm587263 6 152129399 [T/C] NM_001122742,NM_001122741,NM_001122740,NM_000125 ESR1,ESR1,ESR1,ESR1 EXON Missense_S118P,Missense_S118P,Missense_S118P,Missense_S118P exm587265 6 152129453 [T/C] NM_001122742,NM_001122741,NM_001122740,NM_000125 ESR1,ESR1,ESR1,ESR1 EXON Missense_P136S,Missense_P136S,Missense_P136S,Missense_P136S exm2275918 6 152129456 [A/C] NM_001122742,NM_001122741,NM_001122740,NM_000125 ESR1,ESR1,ESR1,ESR1 EXON Missense_S137R,Missense_S137R,Missense_S137R,Missense_S137R exm587273 6 152163733 [G/C] NM_001122742,NM_001122741,NM_001122740,NM_000125 ESR1,ESR1,ESR1,ESR1 EXON Missense_P152A,Missense_P152A,Missense_P152A,Missense_P152A exm587275 6 152163757 [T/G] NM_001122742,NM_001122741,NM_001122740,NM_000125 ESR1,ESR1,ESR1,ESR1 EXON Missense_G160C,Missense_G160C,Missense_G160C,Missense_G160C exm2264186 6 152251080 [A/C] NM_001122742,NM_001122741,NM_001122740,NM_000125 ESR1,ESR1,ESR1,ESR1 Silent,Silent,Silent,Silent exm587283 6 152265352 [T/C] NM_001122742,NM_001122741,NM_001122740,NM_000125 ESR1,ESR1,ESR1,ESR1 EXON Missense_R269C,Missense_R269C,Missense_R269C,Missense_R269C exm587288 6 152265443 [A/G] NM_001122742,NM_001122741,NM_001122740,NM_000125 ESR1,ESR1,ESR1,ESR1 EXON Missense_K299R,Missense_K299R,Missense_K299R,Missense_K299R exm587289 6 152265445 [T/C] NM_001122742,NM_001122741,NM_001122740,NM_000125 ESR1,ESR1,ESR1,ESR1 EXON Missense_R300C,Missense_R300C,Missense_R300C,Missense_R300C exm-rs2982694 6 152285687 [T/G] NM_001122742,NM_001122741,NM_001122740,NM_000125 ESR1,ESR1,ESR1,ESR1 Silent,Silent,Silent,Silent exm2257603 6 152332825 [T/C] NM_001122742,NM_001122741,NM_001122740,NM_000125 ESR1,ESR1,ESR1,ESR1 EXON Synonymous_H377H,Synonymous_H377H,Synonymous_H377H,Synonymous_H377H exm587301 6 152332825 [T/C] NM_001122742,NM_001122741,NM_001122740,NM_000125 ESR1,ESR1,ESR1,ESR1 EXON Synonymous_H377H,Synonymous_H377H,Synonymous_H377H,Synonymous_H377H exm587302 6 152332868 [A/G] NM_001122742,NM_001122741,NM_001122740,NM_000125 ESR1,ESR1,ESR1,ESR1 EXON Missense_V392I,Missense_V392I,Missense_V392I,Missense_V392I exm587327 6 152420094 [T/C] NM_001122742,NM_001122741,NM_001122740,NM_000125 ESR1,ESR1,ESR1,ESR1 EXON Missense_T594M,Missense_T594M,Missense_T594M,Missense_T594M exm587336 6 152443693 [C/G] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_L8710V,Missense_L8758V exm587337 6 152443744 [T/G] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_L8693M,Missense_L8741M exm587339 6 152443753 [A/G] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_R8690C,Missense_R8738C exm587341 6 152443761 [T/C] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_R8687Q,Missense_R8735Q exm587346 6 152453258 [A/G] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_T8650M,Missense_T8698M exm587349 6 152453291 [A/G] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_T8639I,Missense_T8687I exm2114017 6 152453307 [G/C] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_G8634R,Missense_G8682R exm587354 6 152454496 [T/C] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_G8591E,Missense_G8639E exm587356 6 152454556 [A/G] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_L8571P,Missense_L8619P exm587359 6 152456276 [T/G] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_D8536A,Missense_D8584A exm587375 6 152461140 [T/C] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_R8420H,Missense_R8468H exm587378 6 152461162 [T/C] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_E8413K,Missense_E8461K exm587379 6 152461201 [T/C] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_D8400N,Missense_D8448N exm587390 6 152464786 [A/G] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_P8316L,Missense_P8364L exm587397 6 152464892 [T/C] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_S8281G,Missense_S8329G exm587409 6 152466652 [A/G] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_L8268F,Silent exm587418 6 152469188 [C/G] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_G8252A,Missense_G8323A exm587419 6 152469200 [T/C] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_R8248Q,Missense_R8319Q exm587420 6 152469204 [A/G] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_L8247F,Missense_L8318F exm587421 6 152469275 [T/C] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_D8223G,Missense_D8294G exm587423 6 152469324 [T/C] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_V8207M,Missense_V8278M exm587424 6 152469329 [C/G] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_A8205G,Missense_A8276G exm587427 6 152469359 [T/C] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_R8195Q,Missense_R8266Q exm587430 6 152469433 [G/C] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_H8170Q,Missense_H8241Q exm587431 6 152469439 [G/C] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_H8168Q,Missense_H8239Q exm587436 6 152470620 [A/G] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_R8141C,Missense_R8212C exm587439 6 152470752 [A/C] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_A8097S,Missense_A8168S exm587441 6 152470766 [A/G] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_I8092T,Missense_I8163T exm2243337 6 152470773 [T/G] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_N8090H,Missense_N8161H exm587444 6 152472789 [A/G] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_R8046W,Missense_R8117W exm587455 6 152473212 [A/C] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_R7994L,Missense_R8065L exm587473 6 152485345 [T/C] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_D7844N,Missense_D7915N exm587475 6 152485375 [T/C] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_E7834K,Missense_E7905K exm587477 6 152485429 [T/C] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_V7816M,Missense_V7887M exm587506 6 152497676 [C/G] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_A7756G,Missense_A7827G exm587511 6 152501416 [T/C] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_R7701Q,Missense_R7772Q exm587513 6 152510428 [T/C] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_V7683I,Missense_V7754I exm587515 6 152510431 [A/G] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_R7682C,Missense_R7753C exm587518 6 152510466 [T/C] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_Y7670C,Missense_Y7741C exm587530 6 152527320 [G/C] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_L7597V,Missense_L7668V exm587535 6 152527409 [T/C] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_G7567D,Missense_G7638D exm587536 6 152527412 [G/C] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_S7566T,Missense_S7637T exm587543 6 152529148 [T/C] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_I7524V,Missense_I7595V exm587570 6 152534783 [A/C] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_N7415K,Missense_N7486K exm587577 6 152536152 [T/C] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_R7341H,Missense_R7412H exm587586 6 152539511 [A/C] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_A7287S,Missense_A7358S exm587590 6 152540187 [T/G] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_H7261P,Missense_H7332P exm587597 6 152540278 [A/C] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_F7231V,Missense_F7302V exm587609 6 152542132 [T/C] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_A7165T,Missense_A7236T exm587623 6 152545711 [A/G] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_M7076T,Missense_M7147T exm587625 6 152545774 [T/C] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_K7055R,Missense_K7126R exm587631 6 152551728 [T/C] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_R6979Q,Missense_R7050Q exm587633 6 152551800 [T/G] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_E6955A,Missense_E7026A exm587637 6 152552563 [T/C] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_K6930R,Missense_K7001R exm587661 6 152557350 [A/G] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_S6692L,Missense_S6763L exm587666 6 152557969 [A/G] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_R6657C,Missense_R6728C exm587669 6 152558082 [A/G] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_T6619M,Missense_T6690M exm587670 6 152560744 [A/G] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_T6593I,Missense_T6664I exm587681 6 152563538 [T/C] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_R6506Q,Missense_R6577Q exm587682 6 152563570 [A/C] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_M6495I,Missense_M6566I exm587687 6 152565729 [A/C] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_R6474S,Missense_R6545S exm587689 6 152565758 [A/G] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_F6465L,Missense_F6536L exm587692 6 152570334 [A/C] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_A6441S,Missense_A6512S exm587694 6 152570360 [T/C] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_N6432S,Missense_N6503S exm587703 6 152576731 [C/G] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_Q6348E,Missense_Q6419E exm587705 6 152576758 [T/C] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_E6339K,Missense_E6410K exm587712 6 152577874 [G/C] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_L6262F,Missense_L6333F exm2114146 6 152583258 [A/T] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_Q6223L,Missense_Q6294L exm587718 6 152583268 [T/C] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_A6220T,Missense_A6291T exm587726 6 152590316 [A/G] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_R6156W,Missense_R6227W exm587727 6 152590333 [A/G] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_T6150I,Missense_T6221I exm587750 6 152605116 [G/C] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_L5997F,Missense_L6068F exm587751 6 152605135 [A/G] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_S5991L,Missense_S6062L exm2114164 6 152614769 [A/C] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_S5918I,Missense_S5989I exm587763 6 152614868 [T/C] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_R5885H,Missense_R5956H exm587767 6 152615097 [G/C] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_V5879L,Missense_V5950L exm587769 6 152615118 [A/G] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_S5872P,Missense_S5943P exm587770 6 152615148 [T/C] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_A5862T,Missense_A5933T exm587799 6 152629631 [T/C] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_R5709Q,Missense_R5780Q exm2275919 6 152631566 [A/G] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_R5591C,Missense_R5662C exm587814 6 152631649 [A/G] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_M5563T,Missense_M5634T exm587817 6 152631869 [T/C] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_R5546Q,Missense_R5617Q exm587834 6 152639250 [T/C] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_R5442K,Missense_R5513K exm587843 6 152640110 [A/G] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_T5355M,Missense_T5426M exm587851 6 152642480 [T/G] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_M5306L,Missense_M5377L exm587854 6 152642499 [T/G] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_H5299Q,Missense_H5370Q exm587856 6 152642914 [A/G] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_T5271M,Missense_T5342M exm2270431 6 152644111 [T/C] NM_033071,NM_182961 SYNE1,SYNE1 Silent,Silent exm587863 6 152644667 [G/C] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_G5217A,Missense_G5288A exm587874 6 152646308 [C/G] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_Q5119E,Missense_Q5190E exm2114204 6 152646407 [T/C] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_E5086K,Missense_E5157K exm587885 6 152647218 [T/C] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_D5034N,Missense_D5105N exm587891 6 152647522 [T/C] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_K4997E,Missense_K5068E exm587897 6 152647681 [T/A] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_L4944M,Missense_L5015M exm587898 6 152647719 [A/G] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_F4931S,Missense_F5002S exm587918 6 152651319 [T/C] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_R4763Q,Missense_R4834Q exm587919 6 152651368 [A/T] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_Y4747N,Missense_Y4818N exm587925 6 152651539 [T/C] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_R4690G,Missense_R4761G exm587926 6 152651557 [A/G] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_L4684F,Missense_L4755F exm587929 6 152651599 [A/G] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_R4670C,Missense_R4741C exm587937 6 152651713 [T/C] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_D4632N,Missense_D4703N exm587939 6 152651729 [A/C] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_M4626I,Missense_M4697I exm587946 6 152651911 [T/C] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_D4566N,Missense_D4637N exm587949 6 152651968 [T/G] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_L4547I,Missense_L4618I exm587950 6 152651971 [T/G] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_N4546H,Missense_N4617H exm2114220 6 152652024 [T/C] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_H4528R,Missense_H4599R exm587952 6 152652034 [T/A] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_S4525T,Missense_S4596T exm2114221 6 152652051 [T/C] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_N4519S,Missense_N4590S exm587954 6 152652052 [T/C] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_N4519D,Missense_N4590D exm587957 6 152652184 [T/C] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_V4475I,Missense_V4546I exm587971 6 152652520 [T/C] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_V4363M,Missense_V4434M exm587977 6 152652703 [C/G] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_Q4302E,Missense_Q4373E exm587985 6 152652850 [A/G] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_R4253C,Missense_R4324C exm587986 6 152652867 [A/G] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_T4247M,Missense_T4318M exm587995 6 152655270 [A/G] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_R4152C,Missense_R4223C exm587998 6 152655323 [A/G] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_S4134L,Missense_S4205L exm587999 6 152655330 [T/C] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_E4132K,Missense_E4203K exm588001 6 152655352 [A/C] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_K4124N,Missense_K4195N exm588007 6 152658062 [C/G] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_D4077H,Missense_D4148H exm588010 6 152658113 [A/C] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_G4060C,Missense_G4131C exm588015 6 152658142 [T/C] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_K4050R,Missense_K4121R exm588020 6 152660377 [A/G] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_T4046M,Missense_T4117M exm588026 6 152665230 [T/C] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_E4000K,Missense_E4071K exm588028 6 152665261 [A/C] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_E3989D,Missense_E4060D exm588029 6 152665271 [A/G] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_P3986L,Missense_P4057L exm588033 6 152665326 [T/C] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_V3968I,Missense_V4039I exm588036 6 152668211 [A/G] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_C3950R,Missense_C4021R exm588038 6 152668249 [T/G] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_A3937D,Missense_A4008D exm2257605 6 152668272 [T/C] NM_033071,NM_182961 SYNE1,SYNE1 EXON Synonymous_A3929A,Synonymous_A4000A exm588044 6 152671337 [A/G] NM_033071,NM_182961 SYNE1,SYNE1 EXON Silent,Missense_L3956P exm588057 6 152671448 [A/G] NM_033071,NM_182961 SYNE1,SYNE1 EXON Silent,Missense_A3919V exm588063 6 152671811 [A/G] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_L3877S,Missense_L3892S exm588065 6 152671865 [T/G] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_K3859T,Missense_K3874T exm588069 6 152673201 [T/C] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_M3832I,Missense_M3847I exm588072 6 152673257 [T/C] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_T3814A,Missense_T3829A exm2114250 6 152673265 [T/C] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_K3811R,Missense_K3826R exm588086 6 152674433 [T/C] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_T3725A,Missense_T3740A exm588089 6 152674464 [A/C] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_K3714N,Missense_K3729N exm588095 6 152674776 [T/C] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_C3662Y,Missense_C3677Y exm588109 6 152675893 [T/G] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_Q3616H,Missense_Q3609H exm588111 6 152675934 [T/C] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_V3603M,Missense_V3596M exm588118 6 152679518 [T/C] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_R3540H,Missense_R3533H exm588119 6 152679532 [A/C] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_H3535Q,Missense_H3528Q exm588125 6 152679641 [T/C] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_R3499H,Missense_R3492H exm588136 6 152683397 [T/C] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_G3410S,Missense_G3403S exm588141 6 152683444 [C/G] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_A3394G,Missense_A3387G exm2114277 6 152686022 [T/C] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_M3376V,Missense_M3369V exm588147 6 152686090 [T/G] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_S3353Y,Missense_S3346Y exm588148 6 152686105 [A/G] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_V3348A,Missense_V3341A exm588157 6 152688391 [T/C] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_D3319N,Missense_D3312N exm588161 6 152688435 [A/G] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_T3304M,Missense_T3297M exm588175 6 152690150 [A/G] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_S3262L,Missense_S3255L exm588179 6 152690199 [C/G] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_Q3246E,Missense_Q3239E exm588183 6 152690259 [T/C] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_V3226I,Missense_V3219I exm588187 6 152690652 [T/C] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_R3209H,Missense_R3202H exm588189 6 152690715 [T/C] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_S3188N,Missense_S3181N exm588190 6 152690727 [T/C] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_D3184G,Missense_D3177G exm588198 6 152694302 [C/G] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_S3133C,Missense_S3126C exm588207 6 152697692 [C/G] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_L3057V,Missense_L3050V exm2114294 6 152697940 [T/G] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_K3046N,Missense_K3039N exm588211 6 152697966 [T/C] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_R3038G,Missense_R3031G exm588212 6 152697971 [T/A] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_F3036Y,Missense_F3029Y exm588221 6 152702434 [T/C] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_E2913K,Missense_E2906K exm2114303 6 152706904 [T/C] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_T2860A,Missense_T2853A exm588232 6 152706924 [A/G] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_L2853S,Missense_L2846S exm588241 6 152708310 [A/G] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_A2802V,Missense_A2795V exm588242 6 152708319 [T/C] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_R2799H,Missense_R2792H exm588244 6 152708334 [A/G] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_T2794M,Missense_T2787M exm588245 6 152708358 [A/C] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_I2786S,Missense_I2779S exm2274201 6 152708453 [C/G] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_Q2754H,Missense_Q2747H exm588251 6 152708464 [T/G] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_Q2751K,Missense_Q2744K exm2266354 6 152711406 [A/G] NM_033071,NM_182961 SYNE1,SYNE1 Silent,Silent exm588258 6 152711428 [T/C] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_V2729I,Missense_V2722I exm588265 6 152712440 [T/G] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_T2666N,Missense_T2659N exm588292 6 152717943 [T/A] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_Q2515L,Missense_Q2508L exm588296 6 152718031 [T/C] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_K2486E,Missense_K2479E exm588297 6 152718033 [C/G] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_S2485C,Missense_S2478C exm588304 6 152720832 [T/C] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_I2393V,Missense_I2386V exm2257606 6 152720866 [T/C] NM_033071,NM_182961 SYNE1,SYNE1 EXON Synonymous_E2381E,Synonymous_E2374E exm588307 6 152720912 [T/G] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_T2366N,Missense_T2359N exm588312 6 152722356 [T/C] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_I2323V,Missense_I2316V exm588313 6 152722368 [A/G] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_F2319L,Missense_F2312L exm588315 6 152722382 [A/G] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_T2314I,Missense_T2307I exm588316 6 152722413 [T/C] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_G2304R,Missense_G2297R exm588319 6 152728323 [C/G] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_E2190D,Missense_E2183D exm588323 6 152730222 [A/G] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_T2181I,Missense_T2174I exm588324 6 152730259 [T/A] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_S2169C,Missense_S2162C exm588325 6 152730273 [T/C] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_K2164R,Missense_K2157R exm588336 6 152734582 [A/C] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_I2052M,Missense_I2045M exm588341 6 152737573 [T/C] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_R2007K,Missense_R2000K exm588348 6 152737765 [T/C] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_H1943R,Missense_H1936R exm588351 6 152737859 [T/C] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_I1912V,Missense_I1905V exm588362 6 152738143 [A/G] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_A1817V,Missense_A1810V exm588366 6 152740765 [T/C] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_E1794G,Missense_E1787G exm588367 6 152740784 [A/T] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_I1788F,Missense_I1781F exm588369 6 152740843 [T/C] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_Q1768R,Missense_Q1761R exm588373 6 152746593 [T/A] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_D1737E,Missense_D1730E exm588374 6 152746613 [A/G] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_F1731L,Missense_F1724L exm588377 6 152746658 [T/G] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_Q1716K,Missense_Q1709K exm588378 6 152746682 [A/C] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_A1708S,Missense_A1701S exm588388 6 152749494 [T/C] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_A1615T,Missense_A1608T exm588395 6 152751278 [T/G] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_T1593K,Missense_T1586K exm588397 6 152751303 [A/G] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_P1585S,Missense_P1578S exm2114348 6 152751312 [A/G] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_L1582F,Missense_L1575F exm588399 6 152751670 [T/C] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_T1553A,Missense_T1546A exm588405 6 152751762 [A/G] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_T1522I,Missense_T1515I exm588409 6 152751829 [T/C] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_I1500V,Missense_I1493V exm588410 6 152751835 [G/C] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_Q1498E,Missense_Q1491E exm588419 6 152757088 [A/G] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_T1440M,Missense_T1433M exm588424 6 152757224 [A/G] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_R1395W,Missense_R1388W exm588425 6 152762307 [T/A] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_F1376L,Missense_F1369L exm588428 6 152762383 [T/C] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_R1351Q,Missense_R1344Q exm588438 6 152763328 [A/G] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_A1304V,Missense_A1297V exm588442 6 152763368 [A/G] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_R1291W,Missense_R1284W exm588454 6 152768726 [T/G] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_E1186A,Missense_E1179A exm588461 6 152770678 [A/C] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_R1172L,Missense_R1165L exm588473 6 152771884 [A/G] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_R1098W,Missense_R1091W exm588475 6 152771967 [A/G] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_V1070A,Missense_V1063A exm588481 6 152772264 [A/G] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_V1042A,Missense_V1035A exm588482 6 152772294 [A/T] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_D1032V,Missense_D1025V exm-rs70018 6 152774033 [A/G] NM_033071,NM_182961 SYNE1,SYNE1 Silent,Silent exm588486 6 152776571 [T/C] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_R968Q,Missense_R961Q exm588496 6 152777095 [A/C] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_L892V,Missense_L885V exm588503 6 152779933 [A/G] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_R850C,Missense_R843C exm588513 6 152783903 [T/C] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_M747I,Missense_M740I exm588515 6 152783946 [T/C] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_E733G,Missense_E726G exm588524 6 152784621 [T/C] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_Q662R,Missense_Q655R exm2114399 6 152786487 [A/G] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_S620F,Missense_S613F exm-rs7747960 6 152791474 [A/C] NM_033071,NM_182961 SYNE1,SYNE1 Silent,Silent exm588547 6 152804308 [A/G] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_A428V,Missense_A421V exm588550 6 152806014 [T/C] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_D388N,Missense_D381N exm588555 6 152809544 [T/G] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_Q352P,Missense_Q345P exm588559 6 152809602 [A/G] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_W333R,Missense_W326R exm588563 6 152823790 [G/C] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_S296T,Missense_S289T exm588586 6 152832706 [T/C] NM_033071,NM_182961 SYNE1,SYNE1 EXON Synonymous_P110P,Silent exm2114441 6 152841658 [A/C] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_R82L,Missense_R82L exm588596 6 152847259 [T/C] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_V61I,Missense_V61I exm588603 6 152861133 [A/G] NM_033071,NM_182961 SYNE1,SYNE1 EXON Nonsense_R31X,Nonsense_R31X exm-rs1322512 6 152947953 [A/C] NM_033071,NM_182961 SYNE1,SYNE1 Silent,Silent exm588605 6 152949426 [T/A] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_I14N,Missense_I14N exm588606 6 152949442 [A/G] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_R9W,Missense_R9W exm588607 6 152949444 [A/G] NM_033071,NM_182961 SYNE1,SYNE1 EXON Missense_S8F,Missense_S8F exm-IND6-153060792 6 153019100 [I/D] NM_025107 MYCT1 EXON exm2243360 6 153019125 [A/G] NM_025107 MYCT1 EXON Missense_D30N exm588616 6 153019197 [A/G] NM_025107 MYCT1 EXON Missense_T54A exm588618 6 153042878 [A/G] NM_025107 MYCT1 EXON Synonymous_E66E exm588629 6 153042982 [T/C] NM_025107 MYCT1 EXON Missense_A101V exm588633 6 153043035 [A/G] NM_025107 MYCT1 EXON Missense_G119S exm588634 6 153043060 [A/G] NM_025107 MYCT1 EXON Missense_R127H exm588636 6 153043077 [T/C] NM_025107 MYCT1 EXON Missense_R133C exm588638 6 153043115 [C/G] NM_025107 MYCT1 EXON Missense_Q145H exm588641 6 153043263 [A/G] NM_025107 MYCT1 EXON Missense_T195A exm588643 6 153043303 [A/G] NM_025107 MYCT1 EXON Nonsense_W208X exm588645 6 153043311 [A/G] NM_025107 MYCT1 EXON Missense_N211D exm2266270 6 153200869 [A/G] exm588676 6 153292308 [T/C] NM_001142522,NM_012177 FBXO5,FBXO5 EXON Missense_R399Q,Missense_R445Q exm588688 6 153293541 [T/A] NM_001142522,NM_012177 FBXO5,FBXO5 EXON Missense_M274L,Missense_M320L exm588693 6 153296052 [A/C] NM_001142522,NM_012177 FBXO5,FBXO5 EXON Missense_D224Y,Missense_D270Y exm588706 6 153296370 [A/G] NM_001142522,NM_012177 FBXO5,FBXO5 EXON Missense_L118F,Missense_L164F exm588708 6 153296472 [T/C] NM_001142522,NM_012177 FBXO5,FBXO5 EXON Missense_T84A,Missense_T130A exm588715 6 153296541 [G/C] NM_001142522,NM_012177 FBXO5,FBXO5 EXON Missense_Q61E,Missense_Q107E exm588718 6 153296564 [A/G] NM_001142522,NM_012177 FBXO5,FBXO5 EXON Missense_P53L,Missense_P99L exm588767 6 153323570 [A/G] NM_019041,NM_001114184 MTRF1L,MTRF1L EXON Missense_L84S,Missense_L84S exm588768 6 153323574 [T/G] NM_019041,NM_001114184 MTRF1L,MTRF1L EXON Missense_H83N,Missense_H83N exm588785 6 153332860 [G/C] NM_012419 RGS17 EXON Missense_R161T exm-rs685449 6 153344531 [A/T] NM_012419 RGS17 Silent exm2114506 6 153345411 [G/C] NM_012419 RGS17 EXON Missense_L144V exm588791 6 153345468 [T/G] NM_012419 RGS17 EXON Missense_N125H exm588792 6 153345533 [T/C] NM_012419 RGS17 EXON Missense_R103Q exm588798 6 153345624 [A/G] NM_012419 RGS17 EXON Missense_P73S exm2114509 6 153347626 [T/C] NM_012419 RGS17 EXON Missense_T58A exm-rs12055786 6 153431125 [T/C] NM_012419 RGS17 Silent exm2266271 6 153863384 [A/G] exm2270532 6 153928396 [T/C] exm2257609 6 154093266 [A/G] exm2270533 6 154258249 [T/C] exm588828 6 154360642 [A/C] NM_001145280,NM_001145279,NM_001145281,NM_001008503,NM_001145284,NM_001008504,NM_001145283,NM_001008505,NM_001145285,NM_001145286,NM_000914,NM_001145282 OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1 EXON Silent,Missense_A81D,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm588836 6 154360797 [A/G] NM_001145280,NM_001145279,NM_001145281,NM_001008503,NM_001145284,NM_001008504,NM_001145283,NM_001008505,NM_001145285,NM_001145286,NM_000914,NM_001145282 OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1 EXON Silent,Missense_N133D,Silent,Missense_N40D,Missense_N40D,Missense_N40D,Missense_N40D,Missense_N40D,Missense_N40D,Missense_N40D,Missense_N40D,Missense_N40D exm588837 6 154360803 [A/T] NM_001145280,NM_001145279,NM_001145281,NM_001008503,NM_001145284,NM_001008504,NM_001145283,NM_001008505,NM_001145285,NM_001145286,NM_000914,NM_001145282 OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1 EXON Silent,Missense_S135T,Silent,Missense_S42T,Missense_S42T,Missense_S42T,Missense_S42T,Missense_S42T,Missense_S42T,Missense_S42T,Missense_S42T,Missense_S42T exm588850 6 154411110 [C/G] NM_001145280,NM_001145279,NM_001145281,NM_001008503,NM_001145284,NM_001008504,NM_001145283,NM_001008505,NM_001145285,NM_001145286,NM_000914,NM_001145282,NM_001145287 OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1 EXON Missense_S47C,Missense_S240C,Missense_S66C,Missense_S147C,Missense_S147C,Missense_S147C,Missense_S147C,Missense_S147C,Missense_S147C,Missense_S147C,Missense_S147C,Missense_S147C,Missense_S47C exm588851 6 154411124 [A/G] NM_001145280,NM_001145279,NM_001145281,NM_001008503,NM_001145284,NM_001008504,NM_001145283,NM_001008505,NM_001145285,NM_001145286,NM_000914,NM_001145282,NM_001145287 OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1 EXON Missense_N52D,Missense_N245D,Missense_N71D,Missense_N152D,Missense_N152D,Missense_N152D,Missense_N152D,Missense_N152D,Missense_N152D,Missense_N152D,Missense_N152D,Missense_N152D,Missense_N52D exm588852 6 154411134 [T/C] NM_001145280,NM_001145279,NM_001145281,NM_001008503,NM_001145284,NM_001008504,NM_001145283,NM_001008505,NM_001145285,NM_001145286,NM_000914,NM_001145282,NM_001145287 OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1 EXON Missense_T55I,Missense_T248I,Missense_T74I,Missense_T155I,Missense_T155I,Missense_T155I,Missense_T155I,Missense_T155I,Missense_T155I,Missense_T155I,Missense_T155I,Missense_T155I,Missense_T55I exm588857 6 154411211 [T/C] NM_001145280,NM_001145279,NM_001145281,NM_001008503,NM_001145284,NM_001008504,NM_001145283,NM_001008505,NM_001145285,NM_001145286,NM_000914,NM_001145282,NM_001145287 OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1 EXON Missense_R81C,Missense_R274C,Missense_R100C,Missense_R181C,Missense_R181C,Missense_R181C,Missense_R181C,Missense_R181C,Missense_R181C,Missense_R181C,Missense_R181C,Missense_R181C,Missense_R81C exm588858 6 154411220 [T/C] NM_001145280,NM_001145279,NM_001145281,NM_001008503,NM_001145284,NM_001008504,NM_001145283,NM_001008505,NM_001145285,NM_001145286,NM_000914,NM_001145282,NM_001145287 OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1 EXON Nonsense_R84X,Nonsense_R277X,Nonsense_R103X,Nonsense_R184X,Nonsense_R184X,Nonsense_R184X,Nonsense_R184X,Nonsense_R184X,Nonsense_R184X,Nonsense_R184X,Nonsense_R184X,Nonsense_R184X,Nonsense_R84X exm588860 6 154411240 [A/T] NM_001145280,NM_001145279,NM_001145281,NM_001008503,NM_001145284,NM_001008504,NM_001145283,NM_001008505,NM_001145285,NM_001145286,NM_000914,NM_001145282,NM_001145287 OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1 EXON Missense_N90K,Missense_N283K,Missense_N109K,Missense_N190K,Missense_N190K,Missense_N190K,Missense_N190K,Missense_N190K,Missense_N190K,Missense_N190K,Missense_N190K,Missense_N190K,Missense_N90K exm588861 6 154411245 [T/G] NM_001145280,NM_001145279,NM_001145281,NM_001008503,NM_001145284,NM_001008504,NM_001145283,NM_001008505,NM_001145285,NM_001145286,NM_000914,NM_001145282,NM_001145287 OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1 EXON Missense_C92F,Missense_C285F,Missense_C111F,Missense_C192F,Missense_C192F,Missense_C192F,Missense_C192F,Missense_C192F,Missense_C192F,Missense_C192F,Missense_C192F,Missense_C192F,Missense_C92F exm588862 6 154411284 [T/C] NM_001145280,NM_001145279,NM_001145281,NM_001008503,NM_001145284,NM_001008504,NM_001145283,NM_001008505,NM_001145285,NM_001145286,NM_000914,NM_001145282,NM_001145287 OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1 EXON Missense_M105T,Missense_M298T,Missense_M124T,Missense_M205T,Missense_M205T,Missense_M205T,Missense_M205T,Missense_M205T,Missense_M205T,Missense_M205T,Missense_M205T,Missense_M205T,Missense_M105T exm588868 6 154412221 [T/C] NM_001145280,NM_001145279,NM_001145281,NM_001008503,NM_001145284,NM_001008504,NM_001145283,NM_001008505,NM_001145285,NM_001145286,NM_000914,NM_001145282,NM_001145287 OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1 EXON Missense_R160C,Missense_R353C,Missense_R179C,Missense_R260C,Missense_R260C,Missense_R260C,Missense_R260C,Missense_R260C,Missense_R260C,Missense_R260C,Missense_R260C,Missense_R260C,Missense_R160C exm588869 6 154412222 [A/G] NM_001145280,NM_001145279,NM_001145281,NM_001008503,NM_001145284,NM_001008504,NM_001145283,NM_001008505,NM_001145285,NM_001145286,NM_000914,NM_001145282,NM_001145287 OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1 EXON Missense_R160H,Missense_R353H,Missense_R179H,Missense_R260H,Missense_R260H,Missense_R260H,Missense_R260H,Missense_R260H,Missense_R260H,Missense_R260H,Missense_R260H,Missense_R260H,Missense_R160H exm588870 6 154412236 [T/C] NM_001145280,NM_001145279,NM_001145281,NM_001008503,NM_001145284,NM_001008504,NM_001145283,NM_001008505,NM_001145285,NM_001145286,NM_000914,NM_001145282,NM_001145287 OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1 EXON Missense_R165C,Missense_R358C,Missense_R184C,Missense_R265C,Missense_R265C,Missense_R265C,Missense_R265C,Missense_R265C,Missense_R265C,Missense_R265C,Missense_R265C,Missense_R265C,Missense_R165C exm588872 6 154412245 [T/C] NM_001145280,NM_001145279,NM_001145281,NM_001008503,NM_001145284,NM_001008504,NM_001145283,NM_001008505,NM_001145285,NM_001145286,NM_000914,NM_001145282,NM_001145287 OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1 EXON Missense_S168P,Missense_S361P,Missense_S187P,Missense_S268P,Missense_S268P,Missense_S268P,Missense_S268P,Missense_S268P,Missense_S268P,Missense_S268P,Missense_S268P,Missense_S268P,Missense_S168P exm588873 6 154412263 [A/G] NM_001145280,NM_001145279,NM_001145281,NM_001008503,NM_001145284,NM_001008504,NM_001145283,NM_001008505,NM_001145285,NM_001145286,NM_000914,NM_001145282,NM_001145287 OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1 EXON Missense_D174N,Missense_D367N,Missense_D193N,Missense_D274N,Missense_D274N,Missense_D274N,Missense_D274N,Missense_D274N,Missense_D274N,Missense_D274N,Missense_D274N,Missense_D274N,Missense_D174N exm588876 6 154412320 [A/G] NM_001145280,NM_001145279,NM_001145281,NM_001008503,NM_001145284,NM_001008504,NM_001145283,NM_001008505,NM_001145285,NM_001145286,NM_000914,NM_001145282,NM_001145287 OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1 EXON Missense_V193I,Missense_V386I,Missense_V212I,Missense_V293I,Missense_V293I,Missense_V293I,Missense_V293I,Missense_V293I,Missense_V293I,Missense_V293I,Missense_V293I,Missense_V293I,Missense_V193I exm588882 6 154412445 [A/C] NM_001145280,NM_001145279,NM_001145281,NM_001008503,NM_001145284,NM_001008504,NM_001145283,NM_001008505,NM_001145285,NM_001145286,NM_000914,NM_001145282,NM_001145287 OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1 EXON Missense_N234K,Missense_N427K,Missense_N253K,Missense_N334K,Missense_N334K,Missense_N334K,Missense_N334K,Missense_N334K,Missense_N334K,Missense_N334K,Missense_N334K,Missense_N334K,Missense_N234K exm588883 6 154412483 [A/G] NM_001145280,NM_001145279,NM_001145281,NM_001008503,NM_001145284,NM_001008504,NM_001145283,NM_001008505,NM_001145285,NM_001145286,NM_000914,NM_001145282,NM_001145287 OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1 EXON Missense_R247Q,Missense_R440Q,Missense_R266Q,Missense_R347Q,Missense_R347Q,Missense_R347Q,Missense_R347Q,Missense_R347Q,Missense_R347Q,Missense_R347Q,Missense_R347Q,Missense_R347Q,Missense_R247Q exm588884 6 154412516 [T/C] NM_001145280,NM_001145279,NM_001145281,NM_001008503,NM_001145284,NM_001008504,NM_001145283,NM_001008505,NM_001145285,NM_001145286,NM_000914,NM_001145282,NM_001145287 OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1 EXON Missense_S258F,Missense_S451F,Missense_S277F,Missense_S358F,Missense_S358F,Missense_S358F,Missense_S358F,Missense_S358F,Missense_S358F,Missense_S358F,Missense_S358F,Missense_S358F,Missense_S258F exm588892 6 154412576 [T/C] NM_001145280,NM_001145279,NM_001145281,NM_001008503,NM_001145284,NM_001008504,NM_001145283,NM_001008505,NM_001145285,NM_001145286,NM_000914,NM_001145282,NM_001145287 OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1 EXON Missense_T278M,Missense_T471M,Missense_T297M,Missense_T378M,Missense_T378M,Missense_T378M,Missense_T378M,Missense_T378M,Missense_T378M,Missense_T378M,Missense_T378M,Missense_T378M,Missense_T278M exm588893 6 154412611 [T/C] NM_001145280,NM_001145279,NM_001145281,NM_001008503,NM_001145284,NM_001008504,NM_001145283,NM_001008505,NM_001145285,NM_001145286,NM_000914,NM_001145282,NM_001145287 OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1 EXON Silent,Silent,Silent,Silent,Silent,Missense_R390C,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm588896 6 154414446 [A/T] NM_001145280,NM_001145279,NM_001145281,NM_001008503,NM_001145284,NM_001145283,NM_001008505,NM_001145285,NM_001145286,NM_000914,NM_001145282,NM_001145287 OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_Q402H,Silent,Silent,Silent,Silent,Silent exm588900 6 154414496 [A/G] NM_001145280,NM_001145279,NM_001145281,NM_001008503,NM_001145284,NM_001145283,NM_001008505,NM_001145285,NM_001145286,NM_000914,NM_001145282,NM_001145287 OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_Y419C,Silent,Silent,Silent,Silent,Silent exm2114540 6 154414531 [T/C] NM_001145280,NM_001145279,NM_001145281,NM_001008503,NM_001145284,NM_001145283,NM_001008505,NM_001145285,NM_001145286,NM_000914,NM_001145282,NM_001145287 OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_R431C,Silent,Silent,Silent,Silent,Silent exm-rs675026 6 154414563 [A/G] NM_001145280,NM_001145279,NM_001145281,NM_001008503,NM_001145284,NM_001145283,NM_001008505,NM_001145285,NM_001145286,NM_000914,NM_001145282,NM_001145287 OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Synonymous_G441G,Silent,Silent,Silent,Silent,Silent exm588908 6 154428601 [T/C] NM_001145280,NM_001145279,NM_001145281,NM_001008503,NM_001145284,NM_001145283,NM_001145285,NM_001145286,NM_000914,NM_001145282,NM_001145287 OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_V389A,Silent,Silent,Silent exm588911 6 154428666 [T/C] NM_001145280,NM_001145279,NM_001145281,NM_001008503,NM_001145284,NM_001145283,NM_001145285,NM_001145286,NM_000914,NM_001145282,NM_001145287 OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Nonsense_Q411X,Silent,Silent,Silent exm588926 6 154481048 [A/G] NM_001008503,NM_015553,NM_001130699,NM_001130700 OPRM1,IPCEF1,IPCEF1,IPCEF1 EXON Silent,Missense_A410V,Missense_A411V,Missense_A411V exm588937 6 154521021 [T/C] NM_001008503,NM_015553,NM_001130699,NM_001130700 OPRM1,IPCEF1,IPCEF1,IPCEF1 EXON Silent,Missense_A230T,Missense_A231T,Missense_A231T exm588945 6 154521159 [A/G] NM_001008503,NM_015553,NM_001130699,NM_001130700 OPRM1,IPCEF1,IPCEF1,IPCEF1 EXON Silent,Missense_S184P,Missense_S185P,Missense_S185P exm588948 6 154533930 [A/G] NM_001008503,NM_015553,NM_001130699,NM_001130700 OPRM1,IPCEF1,IPCEF1,IPCEF1 EXON Silent,Missense_P170S,Missense_P171S,Missense_P171S exm588971 6 154567863 [T/C] NM_001008503,NM_015553,NM_001130699,NM_001130700 OPRM1,IPCEF1,IPCEF1,IPCEF1 EXON Nonsense_R401X,Synonymous_S35S,Synonymous_S36S,Synonymous_S36S exm2114559 6 154567884 [A/C] NM_001008503,NM_015553,NM_001130699,NM_001130700 OPRM1,IPCEF1,IPCEF1,IPCEF1 EXON Missense_R408S,Synonymous_T28T,Synonymous_T29T,Synonymous_T29T exm588978 6 154568610 [A/G] NM_015553,NM_001130699,NM_001130700 IPCEF1,IPCEF1,IPCEF1 EXON Missense_R16C,Missense_R17C,Missense_R17C exm-rs13202830 6 154578345 [T/C] NM_015553,NM_001130699,NM_001130700 IPCEF1,IPCEF1,IPCEF1 Silent,Silent,Silent exm588987 6 154727538 [T/G] NM_173515 CNKSR3 EXON Missense_P540T exm588990 6 154727599 [T/G] NM_173515 CNKSR3 EXON Missense_F519L exm589008 6 154731503 [A/G] NM_173515 CNKSR3 EXON Missense_A448V exm589010 6 154731566 [T/C] NM_173515 CNKSR3 EXON Missense_G427D exm589012 6 154732121 [A/G] NM_173515 CNKSR3 EXON Missense_S409L exm589013 6 154732169 [T/C] NM_173515 CNKSR3 EXON Missense_R393Q exm589017 6 154735433 [T/C] NM_173515 CNKSR3 EXON Missense_R357Q exm589020 6 154735496 [T/C] NM_173515 CNKSR3 EXON Missense_K336R exm589022 6 154735529 [G/C] NM_173515 CNKSR3 EXON Missense_S325C exm589024 6 154735541 [A/G] NM_173515 CNKSR3 EXON Missense_A321V exm589039 6 154751632 [T/G] NM_173515 CNKSR3 EXON Missense_P215T exm589058 6 154763288 [T/C] NM_173515 CNKSR3 EXON Missense_N118S exm589066 6 154771261 [T/C] NM_173515 CNKSR3 EXON Missense_V62M exm2270432 6 154800018 [T/C] NM_173515 CNKSR3 Silent exm589087 6 155109136 [T/C] NM_014892 SCAF8 EXON Missense_R101C exm589103 6 155123208 [T/C] NM_014892 SCAF8 EXON Missense_T237M exm589118 6 155129280 [T/A] NM_014892 SCAF8 EXON Missense_Q353L exm2274202 6 155129862 [A/G] NM_014892 SCAF8 EXON Missense_V386I exm589124 6 155129926 [A/G] NM_014892 SCAF8 EXON Missense_R407H exm589135 6 155139718 [A/G] NM_014892 SCAF8 EXON Missense_V543I exm589140 6 155141466 [T/C] NM_014892 SCAF8 EXON Synonymous_T597T exm589145 6 155143502 [A/G] NM_014892 SCAF8 EXON Missense_T629A exm589159 6 155148344 [T/C] NM_014892 SCAF8 EXON Missense_P704S exm589170 6 155152163 [A/G] NM_014892 SCAF8 EXON Missense_A750T exm589188 6 155153307 [A/G] NM_014892 SCAF8 EXON Missense_S865N exm589189 6 155153313 [A/G] NM_014892 SCAF8 EXON Missense_G867E exm589191 6 155153414 [C/G] NM_014892 SCAF8 EXON Missense_P901A exm589198 6 155153684 [G/C] NM_014892 SCAF8 EXON Missense_V991L exm589200 6 155153721 [T/A] NM_014892 SCAF8 EXON Missense_L1003H exm589201 6 155153801 [T/C] NM_014892 SCAF8 EXON Missense_P1030S exm589202 6 155153835 [A/G] NM_014892 SCAF8 EXON Missense_R1041Q exm2114717 6 155153840 [A/G] NM_014892 SCAF8 EXON Missense_I1043V exm589205 6 155153955 [A/G] NM_014892 SCAF8 EXON Missense_R1081Q exm589219 6 155154230 [A/G] NM_014892 SCAF8 EXON Missense_M1173V exm589226 6 155154342 [A/G] NM_014892 SCAF8 EXON Missense_N1210S exm2270433 6 155206501 [T/C] exm589234 6 155450378 [G/C] NM_012454 TIAM2 EXON Missense_Q7H exm589240 6 155450454 [T/C] NM_012454 TIAM2 EXON Missense_R33C exm589244 6 155450580 [A/G] NM_012454 TIAM2 EXON Missense_A75T exm589251 6 155450779 [A/G] NM_012454 TIAM2 EXON Missense_Y141C exm589254 6 155450842 [T/G] NM_012454 TIAM2 EXON Missense_L162R exm589260 6 155451015 [A/G] NM_012454 TIAM2 EXON Missense_A220T exm589263 6 155451063 [T/C] NM_012454 TIAM2 EXON Missense_R236W exm589265 6 155451168 [A/G] NM_012454 TIAM2 EXON Missense_G271S exm589273 6 155451351 [T/C] NM_012454 TIAM2 EXON Missense_R332C exm589274 6 155451352 [A/G] NM_012454 TIAM2 EXON Missense_R332H exm589277 6 155451372 [A/G] NM_012454 TIAM2 EXON Missense_I339V exm589282 6 155451476 [T/G] NM_012454 TIAM2 EXON Missense_K373N exm589285 6 155451502 [A/G] NM_012454 TIAM2 EXON Missense_R382Q exm2270534 6 155454811 [T/C] NM_012454 TIAM2 Silent exm589291 6 155458351 [A/G] NM_012454 TIAM2 EXON Missense_R412H exm589312 6 155458738 [T/C] NM_012454 TIAM2 EXON Missense_T541M exm589315 6 155465777 [A/T] NM_012454 TIAM2 EXON Missense_N556K exm589317 6 155465902 [A/G] NM_012454 TIAM2 EXON Missense_Y598C exm2243380 6 155469335 [T/C] NM_012454 TIAM2 EXON Missense_T632M exm589321 6 155469341 [A/G] NM_012454 TIAM2 EXON Missense_R634Q exm589325 6 155469427 [A/G] NM_012454 TIAM2 EXON Missense_V663M exm589340 6 155485693 [A/G] NM_012454 TIAM2 EXON Missense_G725S exm589344 6 155486450 [A/G] NM_012454 TIAM2 EXON Synonymous_Q756Q exm2277309 6 155486506 [T/C] NM_012454 TIAM2 EXON Missense_A775V exm589350 6 155486535 [A/G] NM_012454 TIAM2 EXON Missense_I785V exm589355 6 155497995 [T/C] NM_012454 TIAM2 EXON Missense_P803S exm589356 6 155498007 [A/G] NM_012454 TIAM2 EXON Missense_A807T exm589360 6 155500277 [T/G] NM_012454 TIAM2 EXON Missense_Q876H exm589367 6 155503390 [A/G] NM_012454 TIAM2 EXON Missense_R913H exm589370 6 155504372 [T/G] NM_012454 TIAM2 EXON Synonymous_G934G exm589373 6 155504383 [A/G] NM_012454 TIAM2 EXON Missense_G938D exm589374 6 155504446 [T/C] NM_012454 TIAM2 EXON Missense_A959V exm589377 6 155504469 [A/G] NM_012454 TIAM2 EXON Missense_G967R exm589379 6 155504487 [T/C] NM_012454 TIAM2 EXON Missense_R973W exm589381 6 155504505 [A/G] NM_012454 TIAM2 EXON Missense_A979T exm589390 6 155532359 [T/C] NM_012454 TIAM2 EXON Missense_I1029T exm589399 6 155561760 [T/C] NM_012454,NM_001010927 TIAM2,TIAM2 EXON Missense_S1089P,Missense_S14P exm589402 6 155561791 [A/G] NM_012454,NM_001010927 TIAM2,TIAM2 EXON Missense_R1099H,Missense_R24H exm589421 6 155569278 [T/C] NM_012454,NM_001010927 TIAM2,TIAM2 EXON Missense_T1266M,Missense_T191M exm589425 6 155571006 [A/G] NM_012454,NM_001010927 TIAM2,TIAM2 EXON Missense_K1285R,Missense_K210R exm2114821 6 155571069 [A/G] NM_012454,NM_001010927 TIAM2,TIAM2 EXON Missense_Q1306R,Missense_Q231R exm589448 6 155573093 [A/G] NM_012454,NM_001010927 TIAM2,TIAM2 EXON Missense_V1359I,Missense_V284I exm589450 6 155574094 [T/C] NM_012454,NM_001010927 TIAM2,TIAM2 EXON Missense_R1378W,Missense_R303W exm589465 6 155575143 [T/C] NM_012454,NM_001010927 TIAM2,TIAM2 EXON Missense_T1421M,Missense_T346M exm2114834 6 155577671 [A/G] NM_012454,NM_001010927,NM_016020 TIAM2,TIAM2,TFB1M EXON Missense_G1508S,Missense_G433S,Silent exm589481 6 155577706 [A/C] NM_012454,NM_001010927,NM_016020 TIAM2,TIAM2,TFB1M EXON Missense_D1519E,Missense_D444E,Silent exm589482 6 155577707 [A/G] NM_012454,NM_001010927,NM_016020 TIAM2,TIAM2,TFB1M EXON Missense_E1520K,Missense_E445K,Silent exm589483 6 155577714 [C/G] NM_012454,NM_001010927,NM_016020 TIAM2,TIAM2,TFB1M EXON Missense_S1522T,Missense_S447T,Silent exm589488 6 155577738 [A/G] NM_012454,NM_001010927,NM_016020 TIAM2,TIAM2,TFB1M EXON Missense_S1530N,Missense_S455N,Silent exm589491 6 155577803 [A/C] NM_012454,NM_001010927,NM_016020 TIAM2,TIAM2,TFB1M EXON Missense_P1552T,Missense_P477T,Silent exm2274203 6 155577812 [C/G] NM_012454,NM_001010927,NM_016020 TIAM2,TIAM2,TFB1M EXON Missense_A1555P,Missense_A480P,Silent exm589494 6 155577857 [A/G] NM_012454,NM_001010927,NM_016020 TIAM2,TIAM2,TFB1M EXON Missense_D1570N,Missense_D495N,Silent exm589495 6 155577865 [A/T] NM_012454,NM_001010927,NM_016020 TIAM2,TIAM2,TFB1M EXON Missense_D1572E,Missense_D497E,Silent exm589496 6 155577872 [T/C] NM_012454,NM_001010927,NM_016020 TIAM2,TIAM2,TFB1M EXON Missense_H1575Y,Missense_H500Y,Silent exm589498 6 155577900 [T/C] NM_012454,NM_001010927,NM_016020 TIAM2,TIAM2,TFB1M EXON Missense_P1584L,Missense_P509L,Silent exm589504 6 155577965 [A/G] NM_012454,NM_001010927,NM_016020 TIAM2,TIAM2,TFB1M EXON Missense_E1606K,Missense_E531K,Silent exm589507 6 155578010 [A/G] NM_012454,NM_001010927,NM_016020 TIAM2,TIAM2,TFB1M EXON Missense_G1621R,Missense_G546R,Silent exm589511 6 155578076 [A/G] NM_012454,NM_001010927,NM_016020 TIAM2,TIAM2,TFB1M EXON Missense_K1643E,Missense_K568E,Silent exm589513 6 155578113 [A/G] NM_012454,NM_001010927,NM_016020 TIAM2,TIAM2,TFB1M EXON Missense_R1655H,Missense_R580H,Silent exm589518 6 155578175 [T/C] NM_012454,NM_001010927,NM_016020 TIAM2,TIAM2,TFB1M EXON Nonsense_R1676X,Nonsense_R601X,Silent exm589524 6 155579035 [A/G] NM_016020 TFB1M EXON Missense_L326F exm589532 6 155579209 [A/G] NM_016020 TFB1M EXON Missense_F268L exm589537 6 155581434 [T/C] NM_016020 TFB1M EXON Missense_R256Q exm589543 6 155596864 [G/C] NM_016020,NM_001001346 TFB1M,CLDN20 EXON Silent,Missense_A4G exm589545 6 155596897 [T/G] NM_016020,NM_001001346 TFB1M,CLDN20 EXON Silent,Nonsense_L15X exm2257615 6 155596901 [T/C] NM_016020,NM_001001346 TFB1M,CLDN20 EXON Silent,Synonymous_S16S exm589547 6 155596909 [C/G] NM_016020,NM_001001346 TFB1M,CLDN20 EXON Silent,Missense_S19C exm589555 6 155597005 [A/G] NM_016020,NM_001001346 TFB1M,CLDN20 EXON Silent,Nonsense_W51X exm589559 6 155597092 [T/C] NM_016020,NM_001001346 TFB1M,CLDN20 EXON Silent,Missense_A80V exm589560 6 155597110 [T/G] NM_016020,NM_001001346 TFB1M,CLDN20 EXON Silent,Missense_L86R exm589561 6 155597113 [T/C] NM_016020,NM_001001346 TFB1M,CLDN20 EXON Silent,Missense_A87V exm589565 6 155597133 [A/G] NM_016020,NM_001001346 TFB1M,CLDN20 EXON Silent,Missense_G94R exm589566 6 155597134 [A/G] NM_016020,NM_001001346 TFB1M,CLDN20 EXON Silent,Missense_G94E exm589570 6 155597205 [A/T] NM_016020,NM_001001346 TFB1M,CLDN20 EXON Silent,Missense_S118T exm589571 6 155597215 [A/G] NM_016020,NM_001001346 TFB1M,CLDN20 EXON Silent,Missense_G121E exm589587 6 155606338 [T/C] NM_016020 TFB1M EXON Missense_R207Q exm2257616 6 155608455 [T/C] NM_016020 TFB1M Silent exm589593 6 155618095 [T/C] NM_016020 TFB1M EXON Missense_V180M exm589595 6 155618218 [T/C] NM_016020 TFB1M EXON Missense_I139V exm589596 6 155618223 [T/C] NM_016020 TFB1M EXON Missense_H137R exm589598 6 155618229 [T/C] NM_016020 TFB1M EXON Missense_N135S exm589602 6 155619688 [T/C] NM_016020 TFB1M EXON Missense_R106K exm589605 6 155619721 [T/C] NM_016020 TFB1M Silent exm589609 6 155635442 [A/C] NM_016020 TFB1M EXON Missense_L41V exm589612 6 155635523 [G/C] NM_016020 TFB1M EXON Missense_P14A exm589615 6 155635541 [T/C] NM_016020 TFB1M EXON Missense_S8G exm-rs324368 6 155642564 [A/G] exm589622 6 155718037 [A/G] NM_015718 NOX3 EXON Missense_M547T exm589625 6 155718098 [T/C] NM_015718 NOX3 Silent exm589647 6 155743917 [T/C] NM_015718 NOX3 EXON Missense_A407T exm589654 6 155750012 [T/C] NM_015718 NOX3 EXON Missense_R354Q exm589658 6 155750040 [T/G] NM_015718 NOX3 EXON Missense_Q345K exm2114894 6 155750075 [A/C] NM_015718 NOX3 EXON Missense_L333R exm589664 6 155750172 [A/G] NM_015718 NOX3 EXON Missense_H301Y exm589667 6 155752048 [A/G] NM_015718 NOX3 EXON Missense_P274S exm589670 6 155757581 [T/C] NM_015718 NOX3 EXON Missense_V257M exm589672 6 155757610 [T/G] NM_015718 NOX3 EXON Missense_A247E exm2275378 6 155757671 [A/G] NM_015718 NOX3 EXON Nonsense_R227X exm589676 6 155757680 [A/G] NM_015718 NOX3 EXON Missense_R224W exm589680 6 155761124 [T/C] NM_015718 NOX3 EXON Missense_V212I exm589683 6 155761166 [T/C] NM_015718 NOX3 EXON Missense_A198T exm2275289 6 155761270 [T/C] NM_015718 NOX3 EXON Missense_N163S exm2114917 6 155776028 [A/C] NM_015718 NOX3 EXON Missense_A58S exm589702 6 155776042 [A/C] NM_015718 NOX3 EXON Missense_W53L exm589703 6 155776182 [A/G] NM_015718 NOX3 EXON Nonsense_R44X exm589707 6 155776223 [A/G] NM_015718 NOX3 EXON Missense_T30M exm589709 6 155776260 [A/G] NM_015718 NOX3 EXON Missense_S18P exm589712 6 155776912 [T/C] NM_015718 NOX3 EXON Missense_N8S exm-rs35229355 6 155929801 [T/C] exm2270435 6 156244400 [T/C] exm2262077 6 156601505 [T/G] exm2266355 6 156858484 [A/G] exm2266273 6 156969532 [A/G] exm589763 6 157100348 [A/G] NM_020732,NM_017519 ARID1B,ARID1B EXON Missense_M429V,Missense_M429V exm589773 6 157100585 [T/C] NM_020732,NM_017519 ARID1B,ARID1B EXON Missense_P508S,Missense_P508S exm2266274 6 157150145 [A/G] NM_020732,NM_017519 ARID1B,ARID1B Silent,Silent exm589775 6 157150379 [A/G] NM_020732,NM_017519 ARID1B,ARID1B EXON Missense_M521V,Missense_M521V exm589776 6 157150410 [T/C] NM_020732,NM_017519 ARID1B,ARID1B EXON Missense_M531T,Missense_M531T exm589780 6 157150496 [A/G] NM_020732,NM_017519 ARID1B,ARID1B EXON Missense_I560V,Missense_I560V exm589798 6 157256668 [A/T] NM_020732,NM_017519 ARID1B,ARID1B EXON Missense_E665D,Missense_E652D exm589811 6 157431662 [A/G] NM_020732,NM_017519 ARID1B,ARID1B EXON Missense_A780T,Missense_A767T exm-rs9478751 6 157441050 [A/G] NM_020732,NM_017519 ARID1B,ARID1B Silent,Silent exm589817 6 157454209 [T/C] NM_020732,NM_017519 ARID1B,ARID1B EXON Missense_P807S,Missense_P794S exm589820 6 157454234 [T/C] NM_020732,NM_017519 ARID1B,ARID1B EXON Missense_S815L,Missense_S802L exm589828 6 157469811 [A/G] NM_020732,NM_017519 ARID1B,ARID1B EXON Missense_G869S,Missense_G856S exm589837 6 157488190 [A/G] NM_020732,NM_017519 ARID1B,ARID1B EXON Missense_G966S,Missense_G953S exm589840 6 157488272 [A/T] NM_020732,NM_017519 ARID1B,ARID1B EXON Missense_Q993L,Missense_Q980L exm589867 6 157505557 [A/C] NM_020732,NM_017519 ARID1B,ARID1B EXON Missense_P1180T,Missense_P1167T exm589876 6 157510853 [G/C] NM_020732,NM_017519 ARID1B,ARID1B EXON Missense_L1210V,Missense_L1197V exm2114966 6 157511343 [A/G] NM_020732,NM_017519 ARID1B,ARID1B EXON Synonymous_K1287K,Synonymous_K1274K exm589885 6 157517337 [A/G] NM_020732,NM_017519 ARID1B,ARID1B EXON Missense_M1301V,Missense_M1288V exm589902 6 157521962 [T/G] NM_020732,NM_017519 ARID1B,ARID1B EXON Missense_S1412A,Missense_S1399A exm589903 6 157521968 [G/C] NM_020732,NM_017519 ARID1B,ARID1B EXON Missense_P1414A,Missense_P1401A exm589908 6 157522073 [A/G] NM_020732,NM_017519 ARID1B,ARID1B EXON Missense_G1449S,Missense_G1436S exm589915 6 157522205 [A/G] NM_020732,NM_017519 ARID1B,ARID1B EXON Missense_M1493V,Missense_M1480V exm589916 6 157522223 [A/T] NM_020732,NM_017519 ARID1B,ARID1B EXON Missense_M1499L,Missense_M1486L exm589917 6 157522224 [T/C] NM_020732,NM_017519 ARID1B,ARID1B EXON Missense_M1499T,Missense_M1486T exm589932 6 157525120 [A/G] NM_020732,NM_017519 ARID1B,ARID1B EXON Missense_N1672S,Missense_N1659S exm589935 6 157527374 [A/G] NM_020732,NM_017519 ARID1B,ARID1B EXON Missense_E1700G,Missense_E1687G exm589938 6 157527482 [A/C] NM_020732,NM_017519 ARID1B,ARID1B EXON Missense_E1736A,Missense_E1723A exm589951 6 157527821 [G/C] NM_020732,NM_017519 ARID1B,ARID1B EXON Missense_P1849R,Missense_P1836R exm589955 6 157527865 [A/G] NM_020732,NM_017519 ARID1B,ARID1B EXON Missense_D1864N,Missense_D1851N exm589978 6 157528910 [A/G] NM_020732,NM_017519 ARID1B,ARID1B EXON Missense_R2212H,Missense_R2199H exm2257621 6 157739931 [T/C] NM_018452 TMEM242 EXON Synonymous_A70A exm589993 6 157739948 [T/C] NM_018452 TMEM242 EXON Missense_S65G exm589995 6 157743741 [T/C] NM_018452 TMEM242 EXON Missense_N62S exm589999 6 157744501 [A/G] NM_018452 TMEM242 EXON Missense_P11S exm590002 6 157744524 [A/G] NM_018452 TMEM242 EXON Missense_T3I exm590008 6 157803140 [G/C] NM_024630,NM_153746 ZDHHC14,ZDHHC14 EXON Missense_H29Q,Missense_H29Q exm2266275 6 157854806 [A/G] NM_024630,NM_153746 ZDHHC14,ZDHHC14 Silent,Silent exm2270536 6 158041511 [T/G] NM_024630,NM_153746 ZDHHC14,ZDHHC14 Silent,Silent exm590025 6 158066871 [T/C] NM_024630,NM_153746 ZDHHC14,ZDHHC14 EXON Synonymous_D285D,Synonymous_D285D exm590032 6 158074592 [T/C] NM_024630,NM_153746 ZDHHC14,ZDHHC14 EXON Missense_T334M,Missense_T334M exm590034 6 158074610 [T/C] NM_024630,NM_153746 ZDHHC14,ZDHHC14 EXON Missense_P340L,Missense_P340L exm590045 6 158093942 [A/G] NM_024630,NM_153746 ZDHHC14,ZDHHC14 EXON Missense_A419T,Missense_A404T exm590062 6 158288582 [T/C] NM_016224 SNX9 EXON Missense_R6W exm2115016 6 158288648 [A/C] NM_016224 SNX9 EXON Missense_I28L exm590065 6 158288665 [A/G] NM_016224 SNX9 EXON Synonymous_P33P exm590075 6 158296198 [A/G] NM_016224 SNX9 EXON Missense_N97S exm590076 6 158317863 [A/G] NM_016224 SNX9 EXON Missense_G102D exm590078 6 158317993 [A/C] NM_016224 SNX9 EXON Missense_D145E exm590085 6 158322995 [A/G] NM_016224 SNX9 EXON Missense_D180N exm590087 6 158323047 [A/G] NM_016224 SNX9 EXON Missense_S197N exm590107 6 158331056 [A/T] NM_016224 SNX9 EXON Synonymous_T316T exm590121 6 158349699 [T/C] NM_016224 SNX9 EXON Missense_T418M exm590125 6 158353294 [T/G] NM_016224 SNX9 EXON Missense_S452R exm590145 6 158363854 [A/G] NM_016224 SNX9 EXON Missense_R591H exm590146 6 158363865 [T/A] NM_016224 SNX9 EXON Missense_M595L exm590154 6 158438287 [T/C] NM_003898,NM_001178088 SYNJ2,SYNJ2 EXON Missense_A60V,Silent exm590165 6 158449841 [A/G] NM_003898,NM_001178088 SYNJ2,SYNJ2 EXON Missense_R90G,Silent exm590174 6 158450006 [T/C] NM_003898,NM_001178088 SYNJ2,SYNJ2 EXON Missense_R145C,Silent exm2115073 6 158454680 [A/G] NM_003898,NM_001178088 SYNJ2,SYNJ2 EXON Missense_G227S,Silent exm590195 6 158464403 [T/C] NM_003898,NM_001178088 SYNJ2,SYNJ2 EXON Missense_P256L,Missense_P19L exm590201 6 158480332 [A/G] NM_003898,NM_001178088 SYNJ2,SYNJ2 EXON Missense_V301M,Missense_V64M exm590214 6 158483186 [A/G] NM_003898,NM_001178088 SYNJ2,SYNJ2 EXON Missense_V373I,Missense_V136I exm590223 6 158484870 [A/G] NM_003898,NM_001178088 SYNJ2,SYNJ2 EXON Missense_R392Q,Missense_R155Q exm590228 6 158484902 [A/G] NM_003898,NM_001178088 SYNJ2,SYNJ2 EXON Missense_E403K,Missense_E166K exm590245 6 158487526 [A/G] NM_003898,NM_001178088 SYNJ2,SYNJ2 EXON Missense_N526D,Missense_N289D exm590248 6 158487551 [T/C] NM_003898,NM_001178088 SYNJ2,SYNJ2 EXON Missense_M534T,Missense_M297T exm590252 6 158487631 [A/G] NM_003898,NM_001178088 SYNJ2,SYNJ2 EXON Missense_D561N,Missense_D324N exm2257623 6 158487648 [A/G] NM_003898,NM_001178088 SYNJ2,SYNJ2 EXON Synonymous_S566S,Synonymous_S329S exm590263 6 158490615 [A/G] NM_003898,NM_001178088 SYNJ2,SYNJ2 EXON Missense_R617H,Missense_R380H exm590266 6 158490647 [T/C] NM_003898,NM_001178088 SYNJ2,SYNJ2 EXON Nonsense_Q628X,Nonsense_Q391X exm590267 6 158490659 [A/G] NM_003898,NM_001178088 SYNJ2,SYNJ2 EXON Missense_V632I,Missense_V395I exm590271 6 158492660 [T/C] NM_003898,NM_001178088 SYNJ2,SYNJ2 EXON Missense_T656M,Missense_T419M exm590283 6 158492803 [A/G] NM_003898,NM_001178088 SYNJ2,SYNJ2 EXON Missense_T704A,Missense_T467A exm590285 6 158492812 [T/C] NM_003898,NM_001178088 SYNJ2,SYNJ2 EXON Missense_L707F,Missense_L470F exm590287 6 158495613 [A/G] NM_003898,NM_001178088 SYNJ2,SYNJ2 EXON Missense_G712E,Missense_G475E exm2257625 6 158496400 [T/C] NM_003898,NM_001178088 SYNJ2,SYNJ2 Silent,Silent exm590299 6 158497727 [A/G] NM_003898,NM_001178088 SYNJ2,SYNJ2 EXON Missense_A788T,Missense_A551T exm590307 6 158499194 [A/G] NM_003898,NM_001178088 SYNJ2,SYNJ2 Silent,Silent exm590310 6 158499243 [A/G] NM_003898,NM_001178088 SYNJ2,SYNJ2 EXON Missense_V833I,Missense_V596I exm590323 6 158502193 [T/C] NM_003898,NM_001178088 SYNJ2,SYNJ2 EXON Missense_R874W,Missense_R637W exm590324 6 158502215 [T/C] NM_003898,NM_001178088 SYNJ2,SYNJ2 EXON Missense_V881A,Missense_V644A exm590335 6 158502528 [A/G] NM_003898,NM_001178088 SYNJ2,SYNJ2 EXON Missense_V951M,Missense_V714M exm590344 6 158504518 [T/C] NM_003898,NM_001178088 SYNJ2,SYNJ2 EXON Nonsense_R975X,Nonsense_R738X exm590352 6 158505068 [A/G] NM_003898,NM_001178088 SYNJ2,SYNJ2 EXON Missense_D1024N,Missense_D787N exm590357 6 158505107 [A/G] NM_003898,NM_001178088 SYNJ2,SYNJ2 EXON Missense_G1037R,Missense_G800R exm590359 6 158505116 [A/G] NM_003898,NM_001178088 SYNJ2,SYNJ2 EXON Missense_D1040N,Missense_D803N exm590361 6 158505177 [A/C] NM_003898,NM_001178088 SYNJ2,SYNJ2 EXON Missense_T1060N,Missense_T823N exm590367 6 158507892 [A/G] NM_003898,NM_001178088 SYNJ2,SYNJ2 EXON Missense_A1072T,Missense_A835T exm590369 6 158507901 [A/G] NM_003898,NM_001178088 SYNJ2,SYNJ2 EXON Missense_V1075M,Missense_V838M exm590371 6 158507914 [A/G] NM_003898,NM_001178088 SYNJ2,SYNJ2 EXON Missense_R1079Q,Missense_R842Q exm590372 6 158507918 [C/G] NM_003898,NM_001178088 SYNJ2,SYNJ2 EXON Missense_E1080D,Missense_E843D exm590377 6 158508000 [T/C] NM_003898,NM_001178088 SYNJ2,SYNJ2 EXON Missense_P1108S,Missense_P871S exm590378 6 158508013 [A/C] NM_003898,NM_001178088 SYNJ2,SYNJ2 EXON Missense_P1112H,Missense_P875H exm590379 6 158508015 [A/C] NM_003898,NM_001178088 SYNJ2,SYNJ2 EXON Missense_P1113T,Missense_P876T exm590388 6 158510956 [A/G] NM_003898,NM_001178088 SYNJ2,SYNJ2 EXON Missense_R1181Q,Missense_R944Q exm590390 6 158510970 [A/G] NM_003898,NM_001178088 SYNJ2,SYNJ2 EXON Missense_A1186T,Missense_A949T exm590393 6 158514030 [T/C] NM_003898,NM_001178088 SYNJ2,SYNJ2 EXON Missense_P1213L,Missense_P976L exm590411 6 158516708 [T/C] NM_003898,NM_001178088 SYNJ2,SYNJ2 EXON Missense_P1268L,Missense_P1031L exm590415 6 158516737 [A/G] NM_003898,NM_001178088 SYNJ2,SYNJ2 EXON Missense_V1278M,Missense_V1041M exm2274205 6 158516905 [G/C] NM_003898,NM_001178088 SYNJ2,SYNJ2 EXON Missense_P1334A,Missense_P1097A exm590431 6 158517034 [A/G] NM_003898,NM_001178088 SYNJ2,SYNJ2 EXON Missense_V1377I,Missense_V1140I exm2115160 6 158517193 [T/C] NM_003898,NM_001178088 SYNJ2,SYNJ2 EXON Missense_L1430F,Missense_L1193F exm590439 6 158517308 [A/G] NM_003898,NM_001178088 SYNJ2,SYNJ2 EXON Missense_E1468G,Missense_E1231G exm2273429 6 158532382 [T/C] NM_032861 SERAC1 EXON Silent exm590454 6 158534495 [C/G] NM_032861 SERAC1 EXON Missense_P605R exm590461 6 158535845 [A/C] NM_032861,NR_073096 SERAC1,SERAC1 EXON Missense_L554V,Silent exm590466 6 158535967 [A/G] NM_032861,NR_073096 SERAC1,SERAC1 EXON Missense_T513M,Silent exm590479 6 158538766 [A/T] NM_032861,NR_073096 SERAC1,SERAC1 EXON Missense_M466L,Silent exm590495 6 158549238 [T/C] NM_032861,NR_073096 SERAC1,SERAC1 EXON Missense_R306Q,Silent exm590512 6 158567861 [A/G] NM_032861,NR_073096 SERAC1,SERAC1 EXON Missense_T147M,Silent exm590517 6 158567910 [A/G] NM_032861,NR_073096 SERAC1,SERAC1 EXON Missense_C131R,Silent exm590525 6 158571611 [T/A] NM_032861,NR_073096 SERAC1,SERAC1 EXON Missense_F47I,Silent exm590529 6 158579305 [T/C] NM_032861,NR_073096 SERAC1,SERAC1 EXON Missense_R31G,Silent exm590530 6 158579307 [A/G] NM_032861,NR_073096 SERAC1,SERAC1 EXON Missense_I30T,Silent exm590532 6 158579374 [T/C] NM_032861,NR_073096 SERAC1,SERAC1 EXON Missense_V8I,Silent exm-rs10946113 6 158584691 [A/C] NM_032861,NR_073096 SERAC1,SERAC1 Silent,Silent exm590553 6 158735296 [A/G] NM_001007466,NM_020245 TULP4,TULP4 EXON Missense_S83N,Missense_S83N exm2257626 6 158743188 [A/G] NM_001007466,NM_020245 TULP4,TULP4 Silent,Silent exm590573 6 158870124 [A/G] NM_001007466,NM_020245 TULP4,TULP4 EXON Missense_G214S,Missense_G214S exm590579 6 158873172 [T/C] NM_001007466,NM_020245 TULP4,TULP4 EXON Missense_P244L,Missense_P244L exm590584 6 158873256 [A/G] NM_001007466,NM_020245 TULP4,TULP4 EXON Missense_N272S,Missense_N272S exm590591 6 158882652 [A/G] NM_001007466,NM_020245 TULP4,TULP4 EXON Missense_R306Q,Missense_R306Q exm590594 6 158882723 [A/C] NM_001007466,NM_020245 TULP4,TULP4 EXON Missense_R330S,Missense_R330S exm590598 6 158900874 [A/G] NM_001007466,NM_020245 TULP4,TULP4 EXON Missense_R373Q,Missense_R373Q exm590601 6 158900925 [A/G] NM_001007466,NM_020245 TULP4,TULP4 EXON Missense_R390H,Missense_R390H exm590602 6 158900939 [A/G] NM_001007466,NM_020245 TULP4,TULP4 EXON Missense_V395I,Missense_V395I exm590607 6 158902103 [T/C] NM_001007466,NM_020245 TULP4,TULP4 EXON Missense_P423L,Missense_P423L exm590618 6 158902313 [A/G] NM_001007466,NM_020245 TULP4,TULP4 EXON Missense_S493N,Missense_S493N exm590621 6 158910625 [A/G] NM_001007466,NM_020245 TULP4,TULP4 EXON Missense_I498V,Missense_I498V exm590622 6 158910653 [T/C] NM_001007466,NM_020245 TULP4,TULP4 EXON Missense_V507A,Missense_V507A exm590624 6 158910698 [A/G] NM_001007466,NM_020245 TULP4,TULP4 EXON Missense_S522N,Missense_S522N exm590627 6 158910743 [A/G] NM_001007466,NM_020245 TULP4,TULP4 EXON Missense_S537N,Missense_S537N exm590634 6 158914685 [A/G] NM_001007466,NM_020245 TULP4,TULP4 EXON Missense_R571H,Missense_R571H exm590643 6 158919775 [T/C] NM_001007466,NM_020245 TULP4,TULP4 EXON Missense_S649P,Missense_S649P exm590662 6 158923055 [T/C] NM_001007466,NM_020245 TULP4,TULP4 EXON Silent,Missense_T787M exm590665 6 158923120 [A/C] NM_001007466,NM_020245 TULP4,TULP4 EXON Silent,Missense_P809T exm590666 6 158923121 [T/C] NM_001007466,NM_020245 TULP4,TULP4 EXON Silent,Missense_P809L exm590684 6 158923466 [C/G] NM_001007466,NM_020245 TULP4,TULP4 EXON Silent,Missense_T924S exm590688 6 158923543 [T/C] NM_001007466,NM_020245 TULP4,TULP4 EXON Silent,Missense_R950C exm590691 6 158923574 [T/C] NM_001007466,NM_020245 TULP4,TULP4 EXON Silent,Missense_P960L exm590694 6 158923610 [A/G] NM_001007466,NM_020245 TULP4,TULP4 EXON Silent,Missense_R972Q exm590697 6 158923657 [T/C] NM_001007466,NM_020245 TULP4,TULP4 EXON Silent,Missense_R988W exm590698 6 158923658 [A/G] NM_001007466,NM_020245 TULP4,TULP4 EXON Silent,Missense_R988Q exm590699 6 158923669 [T/C] NM_001007466,NM_020245 TULP4,TULP4 EXON Silent,Missense_R992C exm590713 6 158923778 [T/C] NM_001007466,NM_020245 TULP4,TULP4 EXON Silent,Missense_A1028V exm590730 6 158923927 [T/C] NM_001007466,NM_020245 TULP4,TULP4 EXON Silent,Missense_R1078C exm590734 6 158923933 [T/C] NM_001007466,NM_020245 TULP4,TULP4 EXON Silent,Missense_R1080C exm590737 6 158923945 [A/G] NM_001007466,NM_020245 TULP4,TULP4 EXON Silent,Missense_V1084I exm590739 6 158923961 [T/C] NM_001007466,NM_020245 TULP4,TULP4 EXON Silent,Missense_T1089M exm590752 6 158924241 [A/C] NM_001007466,NM_020245 TULP4,TULP4 EXON Silent,Missense_Q1182H exm590756 6 158924338 [T/C] NM_001007466,NM_020245 TULP4,TULP4 EXON Silent,Missense_P1215S exm590764 6 158924504 [T/C] NM_001007466,NM_020245 TULP4,TULP4 EXON Silent,Missense_P1270L exm590766 6 158924536 [G/C] NM_001007466,NM_020245 TULP4,TULP4 EXON Silent,Missense_P1281A exm590768 6 158924587 [A/G] NM_001007466,NM_020245 TULP4,TULP4 EXON Silent,Missense_D1298N exm590779 6 158924743 [A/G] NM_001007466,NM_020245 TULP4,TULP4 EXON Silent,Missense_V1350I exm590791 6 158925005 [A/G] NM_001007466,NM_020245 TULP4,TULP4 EXON Silent,Missense_R1437Q exm590797 6 158925065 [A/G] NM_001007466,NM_020245 TULP4,TULP4 EXON Silent,Missense_R1457Q exm2115276 6 158925151 [A/G] NM_001007466,NM_020245 TULP4,TULP4 EXON Silent,Missense_G1486R exm590820 6 158957764 [A/G] NM_020823 TMEM181 EXON Missense_G96S exm590822 6 158957782 [A/C] NM_020823 TMEM181 EXON Missense_P102T exm590827 6 158994507 [A/G] NM_020823 TMEM181 EXON Missense_V159I exm590828 6 158994513 [T/G] NM_020823 TMEM181 EXON Missense_F161V exm590837 6 159006373 [A/C] NM_020823 TMEM181 EXON Missense_K236N exm590850 6 159026306 [T/C] NM_020823 TMEM181 EXON Missense_T304I exm590851 6 159026327 [A/G] NM_020823 TMEM181 EXON Missense_R311Q exm590854 6 159026379 [T/C] NM_020823 TMEM181 EXON Synonymous_T328T exm590855 6 159028297 [T/C] NM_020823 TMEM181 EXON Missense_R336W exm590859 6 159029487 [T/C] NM_020823 TMEM181 EXON Missense_R403C exm590864 6 159029734 [T/C] NM_020823 TMEM181 EXON Missense_I420T exm590887 6 159050800 [T/C] NM_020823 TMEM181 EXON Missense_Y548H exm590896 6 159052862 [T/C] NM_020823 TMEM181 EXON Missense_P594L exm590899 6 159052892 [A/C] NM_020823 TMEM181 EXON Missense_K604T exm590906 6 159057926 [T/C] NM_006519 DYNLT1 EXON Missense_S92N exm590917 6 159058804 [A/G] NM_006519 DYNLT1 EXON Synonymous_I64I exm590938 6 159084320 [A/T] NM_001009991,NM_001242394,NM_001242384,NM_001242395 SYTL3,SYTL3,SYTL3,SYTL3 EXON Missense_L7Q,Missense_L7Q,Missense_L7Q,Missense_L7Q exm590945 6 159086455 [T/C] NM_001009991,NM_001242394,NM_001242384,NM_001242395 SYTL3,SYTL3,SYTL3,SYTL3 EXON Missense_R47W,Missense_R47W,Missense_R47W,Missense_R47W exm2115344 6 159086521 [A/G] NM_001009991,NM_001242394,NM_001242384,NM_001242395 SYTL3,SYTL3,SYTL3,SYTL3 EXON Missense_V69M,Missense_V69M,Missense_V69M,Missense_V69M exm2270537 6 159096121 [T/C] NM_001009991,NM_001242394,NM_001242384,NM_001242395 SYTL3,SYTL3,SYTL3,SYTL3 Silent,Silent,Silent,Silent exm2115350 6 159103998 [A/G] NM_001009991,NM_001242394,NM_001242384,NM_001242395 SYTL3,SYTL3,SYTL3,SYTL3 EXON Missense_R124Q,Missense_R124Q,Missense_R124Q,Missense_R124Q exm590967 6 159129392 [T/G] NM_001009991,NM_001242394,NM_001242384,NM_001242395 SYTL3,SYTL3,SYTL3,SYTL3 EXON Missense_S162I,Missense_S162I,Missense_S162I,Missense_S162I exm590985 6 159166569 [A/G] NM_001009991,NM_001242394,NM_001242384,NM_001242395 SYTL3,SYTL3,SYTL3,SYTL3 EXON Missense_N237D,Missense_N305D,Missense_N305D,Missense_N237D exm590986 6 159166606 [T/G] NM_001009991,NM_001242394,NM_001242384,NM_001242395 SYTL3,SYTL3,SYTL3,SYTL3 EXON Missense_C249F,Missense_C317F,Missense_C317F,Missense_C249F exm590997 6 159178307 [T/C] NM_001009991,NM_001242394,NM_001242384,NM_001242395 SYTL3,SYTL3,SYTL3,SYTL3 EXON Missense_T333M,Missense_T401M,Missense_T401M,Missense_T333M exm590998 6 159178316 [A/G] NM_001009991,NM_001242394,NM_001242384,NM_001242395 SYTL3,SYTL3,SYTL3,SYTL3 EXON Missense_R336Q,Missense_R404Q,Missense_R404Q,Missense_R336Q exm591000 6 159178345 [T/C] NM_001009991,NM_001242394,NM_001242384,NM_001242395 SYTL3,SYTL3,SYTL3,SYTL3 EXON Missense_P346S,Missense_P414S,Missense_P414S,Missense_P346S exm591002 6 159178390 [T/C] NM_001009991,NM_001242394,NM_001242384,NM_001242395 SYTL3,SYTL3,SYTL3,SYTL3 EXON Missense_R361C,Missense_R429C,Missense_R429C,Missense_R361C exm591008 6 159178409 [A/C] NM_001009991,NM_001242394,NM_001242384,NM_001242395 SYTL3,SYTL3,SYTL3,SYTL3 EXON Missense_A367D,Missense_A435D,Missense_A435D,Missense_A367D exm591012 6 159181723 [T/C] NM_001009991,NM_001242394,NM_001242384,NM_001242395 SYTL3,SYTL3,SYTL3,SYTL3 EXON Missense_R386W,Missense_R454W,Missense_R454W,Missense_R386W exm591029 6 159183113 [A/G] NM_001009991,NM_001242394,NM_001242384,NM_001242395 SYTL3,SYTL3,SYTL3,SYTL3 EXON Missense_D406N,Missense_D474N,Missense_D474N,Missense_D406N exm591030 6 159183129 [A/G] NM_001009991,NM_001242394,NM_001242384,NM_001242395 SYTL3,SYTL3,SYTL3,SYTL3 EXON Missense_H411R,Missense_H479R,Missense_H479R,Missense_H411R exm591032 6 159183170 [T/C] NM_001009991,NM_001242394,NM_001242384,NM_001242395 SYTL3,SYTL3,SYTL3,SYTL3 EXON Missense_P425S,Missense_P493S,Missense_P493S,Missense_P425S exm591034 6 159183177 [A/G] NM_001009991,NM_001242394,NM_001242384,NM_001242395 SYTL3,SYTL3,SYTL3,SYTL3 EXON Missense_R427Q,Missense_R495Q,Missense_R495Q,Missense_R427Q exm2243411 6 159184436 [A/G] NM_001009991,NM_001242394,NM_001242384,NM_001242395 SYTL3,SYTL3,SYTL3,SYTL3 EXON Missense_V472I,Missense_V540I,Missense_V540I,Missense_V472I exm591045 6 159184512 [A/G] NM_001009991,NM_001242394,NM_001242384,NM_001242395 SYTL3,SYTL3,SYTL3,SYTL3 EXON Missense_R497H,Missense_R565H,Missense_R565H,Missense_R497H exm591047 6 159185547 [A/G] NM_001009991,NM_001242394,NM_001242384,NM_001242395 SYTL3,SYTL3,SYTL3,SYTL3 EXON Missense_G514R,Missense_G582R,Missense_G582R,Missense_G514R exm591048 6 159185563 [T/A] NM_001009991,NM_001242394,NM_001242384,NM_001242395 SYTL3,SYTL3,SYTL3,SYTL3 EXON Missense_L519Q,Missense_L587Q,Missense_L587Q,Missense_L519Q exm591049 6 159185582 [T/G] NM_001009991,NM_001242394,NM_001242384,NM_001242395 SYTL3,SYTL3,SYTL3,SYTL3 EXON Missense_Q525H,Missense_Q593H,Missense_Q593H,Missense_Q525H exm2243412 6 159185617 [T/C] NM_001009991,NM_001242394,NM_001242384,NM_001242395 SYTL3,SYTL3,SYTL3,SYTL3 EXON Missense_M537T,Missense_M605T,Missense_M605T,Missense_M537T exm591070 6 159188109 [A/G] NM_003379,NM_001111077 EZR,EZR EXON Missense_T533M,Missense_T533M exm591077 6 159188387 [A/G] NM_003379,NM_001111077 EZR,EZR EXON Missense_A501V,Missense_A501V exm591080 6 159188409 [C/G] NM_003379,NM_001111077 EZR,EZR EXON Missense_A494P,Missense_A494P exm591094 6 159190398 [T/C] NM_003379,NM_001111077 EZR,EZR EXON Missense_R435Q,Missense_R435Q exm591109 6 159190925 [T/C] NM_003379,NM_001111077 EZR,EZR EXON Missense_R381Q,Missense_R381Q exm591125 6 159197440 [A/C] NM_003379,NM_001111077 EZR,EZR EXON Synonymous_P265P,Synonymous_P265P exm591126 6 159197477 [T/C] NM_003379,NM_001111077 EZR,EZR EXON Missense_K253R,Missense_K253R exm591127 6 159197483 [T/C] NM_003379,NM_001111077 EZR,EZR EXON Missense_N251S,Missense_N251S exm591134 6 159205689 [A/G] NM_003379,NM_001111077 EZR,EZR EXON Missense_R180C,Missense_R180C exm2257627 6 159206442 [A/G] NM_003379,NM_001111077 EZR,EZR EXON Synonymous_A122A,Synonymous_A122A exm591146 6 159206569 [T/A] NM_003379,NM_001111077 EZR,EZR EXON Missense_F80Y,Missense_F80Y exm2115433 6 159210399 [T/C] NM_003379,NM_001111077 EZR,EZR EXON Missense_N6S,Missense_N6S exm-rs9457490 6 159299216 [T/C] exm2115443 6 159398620 [T/C] NM_031924 RSPH3 EXON Missense_D545N exm591193 6 159398691 [T/C] NM_031924 RSPH3 EXON Missense_Q521R exm591194 6 159398700 [T/C] NM_031924 RSPH3 EXON Missense_G518D exm591195 6 159398721 [T/C] NM_031924 RSPH3 EXON Missense_R511Q exm591198 6 159398745 [A/C] NM_031924 RSPH3 EXON Missense_L503R exm591200 6 159398788 [A/C] NM_031924 RSPH3 EXON Missense_G489C exm591201 6 159398803 [T/C] NM_031924 RSPH3 EXON Missense_E484K exm591202 6 159398835 [T/G] NM_031924 RSPH3 EXON Missense_H473P exm591204 6 159398871 [T/C] NM_031924 RSPH3 EXON Missense_R461H exm591207 6 159399348 [A/G] NM_031924 RSPH3 EXON Missense_M439T exm591214 6 159401898 [T/C] NM_031924 RSPH3 EXON Missense_R398Q exm591223 6 159403554 [T/C] NM_031924 RSPH3 EXON Missense_R362Q exm591225 6 159403577 [A/C] NM_031924 RSPH3 EXON Missense_N354K exm2115456 6 159404813 [A/G] NM_031924 RSPH3 EXON Missense_R267C exm591240 6 159407416 [T/C] NM_031924 RSPH3 EXON Missense_R223Q exm591241 6 159407446 [T/C] NM_031924 RSPH3 EXON Missense_R213Q exm591242 6 159407447 [A/G] NM_031924 RSPH3 EXON Missense_R213W exm591246 6 159414899 [T/C] NM_031924 RSPH3 EXON Missense_N201S exm591248 6 159414918 [T/C] NM_031924 RSPH3 EXON Missense_R195G exm591256 6 159420548 [A/G] NM_031924 RSPH3 EXON Missense_A154V exm591258 6 159420592 [A/C] NM_031924 RSPH3 EXON Missense_Q139H exm591260 6 159420630 [A/T] NM_031924 RSPH3 EXON Missense_C127S exm591262 6 159420665 [T/G] NM_031924 RSPH3 EXON Missense_H115P exm591269 6 159420735 [A/G] NM_031924 RSPH3 EXON Missense_P92S exm591272 6 159420780 [T/C] NM_031924 RSPH3 EXON Missense_G77R exm591273 6 159420783 [G/C] NM_031924 RSPH3 EXON Missense_A76P exm591284 6 159420965 [A/C] NM_031924 RSPH3 EXON Missense_L15R exm591285 6 159420966 [A/G] NM_031924 RSPH3 EXON Missense_L15F exm2270437 6 159425707 [T/C] exm591295 6 159457034 [T/C] NM_054114,NM_152133 TAGAP,TAGAP EXON Missense_H674R,Missense_H496R exm591308 6 159457244 [A/G] NM_054114,NM_152133 TAGAP,TAGAP EXON Missense_A604V,Missense_A426V exm591320 6 159457502 [T/G] NM_054114,NM_152133 TAGAP,TAGAP EXON Missense_K518T,Missense_K340T exm591329 6 159457773 [A/G] NM_054114,NM_152133 TAGAP,TAGAP EXON Missense_P428S,Missense_P250S exm591332 6 159457869 [T/A] NM_054114,NM_152133 TAGAP,TAGAP EXON Missense_T396S,Missense_T218S exm591339 6 159458006 [T/G] NM_054114,NM_152133 TAGAP,TAGAP EXON Missense_A350D,Missense_A172D exm591340 6 159458016 [T/G] NM_054114,NM_152133 TAGAP,TAGAP EXON Missense_P347T,Missense_P169T exm591341 6 159458018 [T/C] NM_054114,NM_152133 TAGAP,TAGAP EXON Missense_G346D,Missense_G168D exm591342 6 159458022 [T/C] NM_054114,NM_152133 TAGAP,TAGAP EXON Missense_A345T,Missense_A167T exm591344 6 159458024 [T/C] NM_054114,NM_152133 TAGAP,TAGAP EXON Missense_S344N,Missense_S166N exm591352 6 159459194 [A/G] NM_054114,NM_152133 TAGAP,TAGAP EXON Missense_H284Y,Missense_H106Y exm591360 6 159461768 [T/C] NM_054114,NM_152133,NM_138810 TAGAP,TAGAP,TAGAP EXON Missense_E192K,Missense_E14K,Missense_E192K exm591368 6 159462424 [T/C] NM_054114,NM_152133,NM_138810 TAGAP,TAGAP,TAGAP EXON Missense_E147K,Silent,Missense_E147K exm-rs1738074 6 159465977 [T/C] NM_054114,NM_152133,NM_138810 TAGAP,TAGAP,TAGAP EXON Silent,Silent,Silent exm-rs212388 6 159490436 [T/C] exm591407 6 159618625 [T/C] NM_032532 FNDC1 EXON Missense_A91V exm591410 6 159621084 [T/C] NM_032532 FNDC1 EXON Missense_R121C exm591411 6 159621087 [T/C] NM_032532 FNDC1 EXON Missense_P122S exm591413 6 159621568 [A/G] NM_032532 FNDC1 EXON Missense_G139S exm591417 6 159636003 [T/C] NM_032532 FNDC1 EXON Missense_R163C exm591419 6 159636039 [A/G] NM_032532 FNDC1 EXON Missense_V175I exm591422 6 159636123 [T/C] NM_032532 FNDC1 EXON Missense_R203W exm591423 6 159636159 [T/C] NM_032532 FNDC1 EXON Missense_R215W exm591426 6 159644575 [A/G] NM_032532 FNDC1 EXON Missense_D261G exm591427 6 159644595 [A/G] NM_032532 FNDC1 EXON Missense_V268I exm591429 6 159644604 [A/G] NM_032532 FNDC1 EXON Missense_M271V exm-rs365302 6 159646333 [T/C] NM_032532 FNDC1 Silent exm591434 6 159646577 [A/G] NM_032532 FNDC1 EXON Missense_V299M exm2115519 6 159646624 [T/G] NM_032532 FNDC1 EXON Missense_Q314H exm591451 6 159650848 [A/G] NM_032532 FNDC1 EXON Synonymous_E394E exm591453 6 159650868 [T/C] NM_032532 FNDC1 EXON Missense_P401L exm2257629 6 159650977 [T/C] NM_032532 FNDC1 EXON Synonymous_A437A exm591460 6 159650978 [A/G] NM_032532 FNDC1 EXON Missense_T438A exm591464 6 159652931 [C/G] NM_032532 FNDC1 EXON Missense_E463Q exm591465 6 159653016 [T/C] NM_032532 FNDC1 EXON Missense_P491L exm591476 6 159653330 [A/G] NM_032532 FNDC1 EXON Missense_G596S exm591479 6 159653467 [A/C] NM_032532 FNDC1 EXON Missense_D641E exm591485 6 159653612 [A/G] NM_032532 FNDC1 EXON Missense_G690S exm591487 6 159653628 [T/C] NM_032532 FNDC1 EXON Missense_S695L exm591489 6 159653631 [A/C] NM_032532 FNDC1 EXON Missense_P696Q exm591498 6 159653738 [A/C] NM_032532 FNDC1 EXON Missense_T732P exm591503 6 159653891 [G/C] NM_032532 FNDC1 EXON Missense_A783P exm591508 6 159653921 [A/G] NM_032532 FNDC1 EXON Missense_D793N exm591514 6 159654030 [A/G] NM_032532 FNDC1 EXON Missense_G829E exm591521 6 159654128 [T/C] NM_032532 FNDC1 EXON Missense_P862S exm591522 6 159654194 [T/C] NM_032532 FNDC1 EXON Missense_P884S exm591533 6 159654408 [A/G] NM_032532 FNDC1 EXON Missense_S955N exm591537 6 159654539 [A/G] NM_032532 FNDC1 EXON Missense_G999S exm591543 6 159654699 [T/C] NM_032532 FNDC1 EXON Missense_S1052F exm591547 6 159654737 [T/C] NM_032532 FNDC1 EXON Missense_P1065S exm591565 6 159655084 [C/G] NM_032532 FNDC1 EXON Missense_D1180E exm591572 6 159655190 [A/G] NM_032532 FNDC1 EXON Missense_D1216N exm591583 6 159655383 [A/G] NM_032532 FNDC1 EXON Missense_Q1280R exm591586 6 159655403 [A/C] NM_032532 FNDC1 EXON Missense_P1287T exm591591 6 159657268 [T/C] NM_032532 FNDC1 EXON Missense_V1330A exm591596 6 159659662 [A/G] NM_032532 FNDC1 EXON Missense_R1382Q exm2257630 6 159659663 [T/G] NM_032532 FNDC1 EXON Synonymous_R1382R exm591611 6 159660804 [C/G] NM_032532 FNDC1 EXON Missense_T1479S exm591620 6 159660879 [A/C] NM_032532 FNDC1 EXON Missense_T1504K exm591621 6 159660915 [A/C] NM_032532 FNDC1 EXON Missense_T1516N exm591627 6 159667972 [T/C] NM_032532 FNDC1 EXON Missense_T1554M exm591630 6 159670100 [A/G] NM_032532 FNDC1 EXON Missense_T1574A exm591631 6 159670138 [T/G] NM_032532 FNDC1 EXON Missense_R1586S exm591645 6 159672489 [A/G] NM_032532 FNDC1 EXON Missense_V1664M exm591647 6 159672511 [T/A] NM_032532 FNDC1 EXON Missense_H1671L exm591660 6 159687181 [T/C] NM_032532 FNDC1 EXON Missense_R1784W exm591662 6 159687197 [G/C] NM_032532 FNDC1 EXON Missense_R1789P exm591665 6 159687251 [A/C] NM_032532 FNDC1 EXON Missense_K1807T exm591668 6 159688848 [A/G] NM_032532 FNDC1 EXON Missense_S1820N exm2274207 6 159688905 [T/C] NM_032532 FNDC1 EXON Missense_L1839P exm591674 6 159692377 [A/G] NM_032532 FNDC1 EXON Missense_R1863H exm591677 6 159692428 [A/G] NM_032532 FNDC1 EXON Missense_Y1880C exm2270538 6 159749112 [T/C] exm2270438 6 159944996 [T/C] exm-rs438657 6 159948959 [A/G] exm591710 6 160106042 [A/G] NM_001024465,NM_001024466,NM_000636 SOD2,SOD2,SOD2 EXON Missense_R123C,Missense_R84C,Missense_R123C exm591721 6 160113838 [T/G] NM_001024465,NM_001024466,NM_000636 SOD2,SOD2,SOD2 EXON Missense_S27R,Missense_S27R,Missense_S27R exm591724 6 160113872 [A/G] NM_001024465,NM_001024466,NM_000636 SOD2,SOD2,SOD2 EXON Missense_V16A,Missense_V16A,Missense_V16A exm591725 6 160113890 [A/C] NM_001024465,NM_001024466,NM_000636 SOD2,SOD2,SOD2 EXON Missense_S10I,Missense_S10I,Missense_S10I exm-rs4516970 6 160137687 [A/G] exm591732 6 160160047 [A/G] NM_004906,NM_001270532,NM_152858,NM_152857,NM_001270533,NM_001270531 WTAP,WTAP,WTAP,WTAP,WTAP,WTAP EXON Missense_K19R,Missense_K19R,Missense_K19R,Missense_K19R,Missense_K19R,Missense_K19R exm591740 6 160164796 [C/G] NM_004906,NM_001270532,NM_152858,NM_152857,NM_001270533,NM_001270531 WTAP,WTAP,WTAP,WTAP,WTAP,WTAP EXON Missense_T82S,Missense_T82S,Missense_T82S,Missense_T82S,Missense_T82S,Missense_T82S exm591763 6 160176479 [A/G] NM_004906,NM_001270531 WTAP,WTAP EXON Missense_T343A,Missense_T343A exm591766 6 160176531 [A/G] NM_004906,NM_001270531 WTAP,WTAP EXON Missense_H360R,Missense_H360R exm591769 6 160176551 [A/G] NM_004906,NM_001270531 WTAP,WTAP EXON Missense_A367T,Missense_A367T exm591771 6 160176593 [A/G] NM_004906,NM_001270531 WTAP,WTAP EXON Missense_V381I,Missense_V381I exm2243426 6 160183124 [A/G] NR_037166,NM_005891 LOC100129518,ACAT2 EXON Silent,Missense_N2S exm591779 6 160183960 [A/G] NM_005891 ACAT2 EXON Missense_N22S exm591793 6 160196343 [A/G] NM_005891 ACAT2 EXON Missense_K211R exm591796 6 160197221 [A/G] NM_005891 ACAT2 EXON Missense_G225E exm591803 6 160198427 [C/G] NM_005891 ACAT2 EXON Missense_S284C exm2115630 6 160199257 [G/C] NM_005891 ACAT2 EXON Missense_A323G exm591818 6 160200109 [T/C] NM_001008897,NM_030752 TCP1,TCP1 EXON Missense_D392N,Missense_D547N exm591841 6 160201577 [C/G] NM_001008897,NM_030752 TCP1,TCP1 EXON Missense_A177G,Missense_A332G exm591852 6 160205082 [T/C] NM_001008897,NM_030752 TCP1,TCP1 EXON Missense_V75I,Missense_V230I exm591858 6 160206428 [T/C] NM_001008897,NM_030752 TCP1,TCP1 EXON Missense_I5V,Missense_I160V exm591879 6 160208804 [T/C] NM_001008897,NM_030752 TCP1,TCP1 EXON Silent,Missense_K84E exm591885 6 160210490 [A/G] NM_001008897,NM_030752 TCP1,TCP1 EXON Silent,Missense_P4L exm-rs2273827 6 160211339 [A/C] exm591893 6 160211648 [T/G] NM_014161 MRPL18 EXON Missense_L10W exm2243429 6 160218390 [T/C] NM_014161 MRPL18 EXON Missense_S104L exm591909 6 160218443 [T/G] NM_014161 MRPL18 EXON Missense_V122L exm591914 6 160219091 [A/G] NM_014161 MRPL18 EXON Missense_R160Q exm591915 6 160219123 [T/G] NM_014161 MRPL18 EXON Missense_V171F exm591923 6 160221773 [T/C] NM_173516 PNLDC1 EXON Nonsense_R5X exm591946 6 160225590 [A/C] NM_173516 PNLDC1 EXON Missense_N117H exm591957 6 160227053 [A/C] NM_173516 PNLDC1 EXON Missense_E156A exm591983 6 160237044 [A/G] NM_173516 PNLDC1 EXON Missense_A336T exm592000 6 160239592 [A/T] NM_173516 PNLDC1 EXON Missense_D377V exm592001 6 160239603 [A/G] NM_173516 PNLDC1 EXON Missense_E381K exm592003 6 160239630 [A/G] NM_173516 PNLDC1 EXON Missense_V390M exm592006 6 160239645 [A/G] NM_173516 PNLDC1 EXON Missense_V395M exm592008 6 160239686 [T/C] NM_173516 PNLDC1 EXON Synonymous_I408I exm592022 6 160240291 [A/G] NM_173516 PNLDC1 EXON Missense_R469Q exm592023 6 160240303 [A/G] NM_173516 PNLDC1 EXON Missense_K473R exm592027 6 160240368 [A/G] NM_173516 PNLDC1 EXON Missense_V495I exm592030 6 160241490 [A/T] NM_173516 PNLDC1 EXON Missense_C502S exm2243431 6 160241547 [T/C] NM_173516 PNLDC1 EXON Missense_X521R exm592055 6 160328331 [A/G] NM_002377 MAS1 EXON Missense_G115D exm592059 6 160328355 [T/C] NM_002377 MAS1 EXON Missense_L123P exm592061 6 160328358 [T/C] NM_002377 MAS1 EXON Missense_T124M exm592062 6 160328380 [A/C] NM_002377 MAS1 EXON Nonsense_C131X exm2115742 6 160328540 [T/C] NM_002377 MAS1 EXON Nonsense_R185X exm592068 6 160328541 [A/G] NM_002377 MAS1 EXON Missense_R185Q exm592069 6 160328586 [T/C] NM_002377 MAS1 EXON Missense_T200M exm592075 6 160328669 [A/G] NM_002377 MAS1 EXON Missense_I228V exm592077 6 160328742 [A/G] NM_002377 MAS1 EXON Missense_Y252C exm592084 6 160328868 [T/C] NM_002377 MAS1 EXON Missense_S294F exm592087 6 160328918 [T/C] NM_002377 MAS1 EXON Missense_R311C exm-rs6917747 6 160402705 [A/G] NM_000876 IGF2R Silent exm592103 6 160412313 [A/G] NM_000876 IGF2R EXON Missense_V83I exm592121 6 160445698 [T/C] NM_000876 IGF2R EXON Missense_P203L exm592123 6 160448261 [A/G] NM_000876 IGF2R EXON Missense_G231S exm592124 6 160448262 [A/G] NM_000876 IGF2R EXON Missense_G231D exm592125 6 160448264 [A/G] NM_000876 IGF2R EXON Missense_T232A exm592128 6 160448286 [A/G] NM_000876 IGF2R EXON Missense_G239E exm592129 6 160448295 [T/C] NM_000876 IGF2R EXON Missense_A242V exm592131 6 160448315 [T/C] NM_000876 IGF2R EXON Missense_R249W exm592133 6 160448324 [G/C] NM_000876 IGF2R EXON Missense_L252V exm2274208 6 160448336 [C/G] NM_000876 IGF2R EXON Missense_R256G exm592138 6 160450598 [A/G] NM_000876 IGF2R EXON Missense_V265M exm592139 6 160450623 [A/G] NM_000876 IGF2R EXON Missense_D273G exm2257633 6 160453696 [T/C] NM_000876 IGF2R EXON Synonymous_G332G exm592149 6 160453697 [A/G] NM_000876 IGF2R EXON Missense_E333K exm592150 6 160453698 [A/G] NM_000876 IGF2R EXON Missense_E333G exm592156 6 160453991 [A/G] NM_000876 IGF2R EXON Missense_D355N exm592165 6 160455520 [C/G] NM_000876 IGF2R EXON Missense_M427I exm2243434 6 160455551 [A/G] NM_000876 IGF2R EXON Missense_A438T exm592170 6 160461661 [T/C] NM_000876 IGF2R EXON Missense_T462M exm592180 6 160464308 [G/C] NM_000876 IGF2R EXON Missense_V537L exm592187 6 160466894 [T/C] NM_000876 IGF2R EXON Missense_T628M exm592191 6 160467623 [T/C] NM_000876 IGF2R EXON Missense_P666L exm592197 6 160468295 [C/G] NM_000876 IGF2R EXON Missense_R719T exm592199 6 160468304 [T/C] NM_000876 IGF2R EXON Missense_P722L exm592200 6 160468309 [A/G] NM_000876 IGF2R EXON Missense_A724T exm592208 6 160468908 [T/C] NM_000876 IGF2R EXON Missense_P772S exm592212 6 160469475 [T/C] NM_000876 IGF2R EXON Missense_T805M exm592216 6 160469510 [G/C] NM_000876 IGF2R EXON Missense_L817V exm592218 6 160469523 [T/C] NM_000876 IGF2R EXON Missense_P821L exm592230 6 160471599 [T/A] NM_000876 IGF2R EXON Missense_V870E exm592242 6 160479104 [T/C] NM_000876 IGF2R EXON Missense_P949L exm592252 6 160480031 [A/G] NM_000876 IGF2R EXON Missense_N998D exm592256 6 160480128 [A/C] NM_000876 IGF2R EXON Missense_K1030T exm592258 6 160481584 [A/G] NM_000876 IGF2R EXON Missense_A1033T exm592266 6 160481707 [A/G] NM_000876 IGF2R EXON Missense_A1074T exm2257635 6 160481727 [T/C] NM_000876 IGF2R EXON Synonymous_S1080S exm592269 6 160481748 [T/C] NM_000876 IGF2R EXON Synonymous_T1087T exm592275 6 160482592 [T/C] NM_000876 IGF2R EXON Missense_T1107M exm592277 6 160482612 [A/G] NM_000876 IGF2R EXON Missense_D1114N exm592278 6 160482642 [A/G] NM_000876 IGF2R EXON Missense_V1124I exm592279 6 160482649 [A/G] NM_000876 IGF2R EXON Missense_N1126S exm592289 6 160482959 [T/C] NM_000876 IGF2R EXON Missense_S1194L exm592293 6 160484453 [A/G] NM_000876 IGF2R EXON Missense_N1226S exm592300 6 160484564 [A/G] NM_000876 IGF2R EXON Missense_G1263E exm2274209 6 160485490 [A/G] NM_000876 IGF2R EXON Missense_G1315E exm592310 6 160485549 [T/C] NM_000876 IGF2R EXON Missense_R1335C exm592311 6 160485550 [A/G] NM_000876 IGF2R EXON Missense_R1335H exm592317 6 160485912 [A/G] NM_000876 IGF2R EXON Missense_D1365G exm592320 6 160489315 [A/C] NM_000876 IGF2R EXON Missense_L1384M exm592322 6 160489348 [A/T] NM_000876 IGF2R EXON Missense_T1395S exm592335 6 160493009 [T/C] NM_000876 IGF2R EXON Missense_T1504I exm592336 6 160493038 [A/G] NM_000876 IGF2R EXON Missense_D1514N exm592350 6 160494409 [A/G] NM_000876 IGF2R EXON Missense_R1619G exm592357 6 160494500 [T/C] NM_000876 IGF2R EXON Missense_A1649V exm592361 6 160494882 [T/G] NM_000876 IGF2R EXON Missense_D1681Y exm592363 6 160494928 [A/G] NM_000876 IGF2R EXON Missense_Q1696R exm592372 6 160496967 [T/C] NM_000876 IGF2R EXON Missense_A1752V exm592382 6 160499381 [T/C] NM_000876 IGF2R EXON Missense_T1822M exm592386 6 160500628 [A/G] NM_000876 IGF2R EXON Missense_R1832H exm592389 6 160500712 [A/G] NM_000876 IGF2R EXON Missense_G1860D exm592399 6 160501175 [A/G] NM_000876 IGF2R EXON Missense_V1901I exm592402 6 160501198 [A/G] NM_000876 IGF2R EXON Missense_I1908M exm592405 6 160501266 [T/C] NM_000876 IGF2R EXON Missense_A1931V exm592410 6 160505075 [T/A] NM_000876 IGF2R EXON Missense_D1976V exm592416 6 160505207 [A/G] NM_000876 IGF2R EXON Missense_N2020S exm592433 6 160510197 [A/G] NM_000876 IGF2R EXON Missense_V2127M exm592448 6 160517472 [T/C] NM_000876 IGF2R EXON Synonymous_D2219D exm592459 6 160523565 [A/G] NM_000876 IGF2R EXON Missense_S2286N exm592465 6 160523630 [A/G] NM_000876 IGF2R EXON Missense_A2308T exm592466 6 160523631 [T/C] NM_000876 IGF2R EXON Missense_A2308V exm592472 6 160524825 [A/G] NM_000876 IGF2R EXON Missense_N2348S exm592501 6 160543008 [T/C] NM_003057,NM_153187 SLC22A1,SLC22A1 EXON Missense_S14F,Missense_S14F exm592503 6 160543034 [G/C] NM_003057,NM_153187 SLC22A1,SLC22A1 EXON Missense_L23V,Missense_L23V exm592506 6 160543080 [A/G] NM_003057,NM_153187 SLC22A1,SLC22A1 EXON Missense_G38D,Missense_G38D exm592509 6 160543148 [T/C] NM_003057,NM_153187 SLC22A1,SLC22A1 EXON Missense_R61C,Missense_R61C exm592512 6 160543179 [A/G] NM_003057,NM_153187 SLC22A1,SLC22A1 EXON Missense_N71S,Missense_N71S exm592517 6 160543206 [T/C] NM_003057,NM_153187 SLC22A1,SLC22A1 EXON Missense_A80V,Missense_A80V exm592521 6 160543220 [T/C] NM_003057,NM_153187 SLC22A1,SLC22A1 EXON Missense_L85F,Missense_L85F exm592522 6 160543229 [T/C] NM_003057,NM_153187 SLC22A1,SLC22A1 EXON Missense_C88R,Missense_C88R exm592531 6 160543317 [T/C] NM_003057,NM_153187 SLC22A1,SLC22A1 EXON Missense_P117L,Missense_P117L exm592533 6 160543330 [A/C] NM_003057,NM_153187 SLC22A1,SLC22A1 EXON Nonsense_C121X,Nonsense_C121X exm592534 6 160543353 [T/C] NM_003057,NM_153187 SLC22A1,SLC22A1 EXON Missense_T129M,Missense_T129M exm592540 6 160551204 [G/C] NM_003057,NM_153187 SLC22A1,SLC22A1 EXON Missense_L160F,Missense_L160F exm592548 6 160553272 [A/G] NM_003057,NM_153187 SLC22A1,SLC22A1 EXON Missense_R175H,Missense_R175H exm592551 6 160553314 [T/C] NM_003057,NM_153187 SLC22A1,SLC22A1 EXON Missense_S189L,Missense_S189L exm592555 6 160553407 [T/G] NM_003057,NM_153187 SLC22A1,SLC22A1 EXON Missense_G220V,Missense_G220V exm592565 6 160557260 [T/C] NM_003057,NM_153187 SLC22A1,SLC22A1 EXON Missense_P283L,Missense_P283L exm592568 6 160557283 [T/C] NM_003057,NM_153187 SLC22A1,SLC22A1 EXON Missense_S291P,Missense_S291P exm592579 6 160557643 [T/C] NM_003057,NM_153187 SLC22A1,SLC22A1 EXON Missense_P341L,Missense_P341L exm592580 6 160557646 [A/G] NM_003057,NM_153187 SLC22A1,SLC22A1 EXON Missense_R342H,Missense_R342H exm592588 6 160560824 [A/G] NM_003057,NM_153187 SLC22A1,SLC22A1 EXON Missense_G401S,Missense_G401S exm592590 6 160560845 [A/G] NM_003057,NM_153187 SLC22A1,SLC22A1 EXON Missense_M408V,Missense_M408V exm592591 6 160560861 [T/C] NM_003057,NM_153187 SLC22A1,SLC22A1 EXON Missense_A413V,Missense_A413V exm2275924 6 160560878 [A/G] NM_003057,NM_153187 SLC22A1,SLC22A1 EXON Missense_V419I,Missense_V419I exm592605 6 160564611 [T/C] NM_003057,NM_153187 SLC22A1,SLC22A1 EXON Nonsense_R439X,Nonsense_R439X exm592607 6 160564616 [A/G] NM_003057,NM_153187 SLC22A1,SLC22A1 EXON Missense_M440I,Missense_M440I exm592610 6 160564677 [A/G] NM_003057,NM_153187 SLC22A1,SLC22A1 EXON Missense_V461I,Missense_V461I exm592613 6 160575837 [A/G] NM_003057,NM_153187 SLC22A1,SLC22A1 EXON Missense_G465R,Silent exm592615 6 160575907 [T/G] NM_003057,NM_153187 SLC22A1,SLC22A1 EXON Missense_R488M,Silent exm592619 6 160577011 [A/G] NM_003057,NM_153187 SLC22A1,SLC22A1 EXON Synonymous_V501V,Missense_V464I exm2275925 6 160577063 [A/G] NM_003057,NM_153187 SLC22A1,SLC22A1 EXON Missense_V519I,Missense_G481D exm-rs1564348 6 160578860 [T/C] NM_003057,NM_153187 SLC22A1,SLC22A1 Silent,Silent exm592626 6 160579573 [A/G] NM_003057,NM_153187 SLC22A1,SLC22A1 EXON Missense_I542V,Missense_D504G exm-rs651164 6 160581374 [A/G] exm2266277 6 160610124 [A/G] exm592636 6 160638477 [T/A] NM_003058 SLC22A2 EXON Missense_I552N exm592638 6 160638502 [A/C] NM_003058 SLC22A2 EXON Missense_Y544D exm592664 6 160663420 [T/G] NM_003058 SLC22A2 EXON Missense_K432Q exm2115972 6 160664685 [A/G] NM_003058 SLC22A2 EXON Missense_R400C exm592674 6 160664733 [A/C] NM_003058 SLC22A2 EXON Missense_A384S exm592690 6 160668329 [A/C] NM_003058 SLC22A2 EXON Missense_C282G exm-rs2279463 6 160668389 [A/G] NM_003058 SLC22A2 Silent exm592693 6 160670282 [A/C] NM_003058 SLC22A2 EXON Missense_S270A exm592700 6 160671647 [T/C] NM_003058 SLC22A2 EXON Nonsense_W202X exm2115985 6 160671651 [A/G] NM_003058 SLC22A2 EXON Missense_T201M exm592709 6 160677669 [T/C] NM_003058 SLC22A2 EXON Missense_M165I exm592719 6 160679590 [A/G] NM_003058 SLC22A2 EXON Missense_P67L exm-rs3127573 6 160681393 [A/G] exm2257637 6 160745751 [A/C] exm-rs402219 6 160789296 [A/G] NM_021977 SLC22A3 Silent exm592741 6 160819086 [A/G] NM_021977 SLC22A3 EXON Missense_A169T exm592756 6 160831780 [T/C] NM_021977 SLC22A3 EXON Missense_R293C exm592757 6 160831796 [A/G] NM_021977 SLC22A3 EXON Missense_R298Q exm592758 6 160831831 [T/C] NM_021977 SLC22A3 EXON Missense_R310C exm-rs7758229 6 160840252 [T/G] NM_021977 SLC22A3 Silent exm592775 6 160858175 [A/G] NM_021977 SLC22A3 EXON Missense_R407H exm2264216 6 160863123 [A/C] NM_021977 SLC22A3 Silent exm-rs2048327 6 160863532 [T/C] NM_021977 SLC22A3 Silent exm592779 6 160863796 [A/T] NM_021977 SLC22A3 EXON Missense_I431K exm2273430 6 160872151 [T/C] NM_021977 SLC22A3 EXON Silent exm592831 6 160952780 [T/C] NM_005577 LPA EXON Missense_G2035E exm592834 6 160952816 [T/C] NM_005577 LPA EXON Missense_Y2023C exm592840 6 160953563 [T/C] NM_005577 LPA EXON Synonymous_Q1987Q exm592843 6 160953642 [A/G] NM_005577 LPA EXON Missense_L1961P exm592847 6 160958929 [T/C] NM_005577 LPA EXON Missense_A1934T exm-rs6919346 6 160960359 [T/C] NM_005577 LPA Silent exm592854 6 160961137 [T/C] NM_005577 LPA EXON Missense_I1891M exm2243442 6 160963813 [A/G] NM_005577 LPA EXON Missense_P1809L exm2116050 6 160963839 [T/C] NM_005577 LPA EXON Synonymous_A1800A exm592868 6 160966559 [A/G] NM_005577 LPA EXON Missense_R1771C exm592871 6 160968841 [A/G] NM_005577 LPA EXON Missense_W1762R exm592874 6 160968889 [A/C] NM_005577 LPA EXON Missense_A1746S exm592887 6 160969546 [T/C] NM_005577 LPA EXON Missense_I1707V exm592889 6 160969584 [C/G] NM_005577 LPA EXON Nonsense_S1694X exm592895 6 160969693 [T/C] NM_005577 LPA Silent exm592901 6 160978442 [A/G] NM_005577 LPA EXON Missense_M1598T exm592910 6 160998167 [T/C] NM_005577 LPA Silent exm592913 6 160998199 [A/G] NM_005577 LPA EXON Missense_H1534Y exm592918 6 160998277 [A/G] NM_005577 LPA EXON Missense_R1508W exm592919 6 160998312 [A/C] NM_005577 LPA EXON Missense_S1496I exm2116072 6 160999594 [T/C] NM_005577 LPA EXON Missense_V1478M exm592928 6 161006077 [T/C] NM_005577 LPA Silent exm592931 6 161006084 [A/G] NM_005577 LPA EXON Missense_P1428L exm592933 6 161006105 [T/C] NM_005577 LPA EXON Missense_R1421Q exm2243443 6 161006114 [A/T] NM_005577 LPA EXON Missense_H1418L exm592939 6 161006172 [T/G] NM_005577 LPA EXON Missense_T1399P exm592940 6 161006177 [T/C] NM_005577 LPA EXON Missense_R1397Q exm592941 6 161006178 [A/G] NM_005577 LPA EXON Nonsense_R1397X exm592948 6 161007522 [A/G] NM_005577 LPA EXON Missense_T1363M exm592960 6 161010615 [T/C] NM_005577 LPA EXON Missense_H1306R exm592961 6 161010626 [T/A] NM_005577 LPA EXON Synonymous_T1302T exm2257638 6 161010626 [T/A] NM_005577 LPA EXON Synonymous_T1302T exm592969 6 161011993 [A/G] NM_005577 LPA EXON Missense_T1257M exm592973 6 161012002 [A/G] NM_005577 LPA EXON Missense_A1254V exm592980 6 161015041 [A/G] NM_005577 LPA EXON Missense_S1193F exm592988 6 161016427 [A/G] NM_005577 LPA EXON Missense_T1143M exm-rs7770628 6 161018174 [T/C] NM_005577 LPA Silent exm593001 6 161020631 [T/C] NM_005577 LPA EXON Missense_R1063Q exm593002 6 161020632 [A/G] NM_005577 LPA EXON Nonsense_R1063X exm593003 6 161020641 [T/G] NM_005577 LPA EXON Missense_Q1060K exm2257639 6 161020675 [A/G] NM_005577 LPA EXON Synonymous_T1048T exm593007 6 161021993 [A/G] NM_005577 LPA EXON Missense_P1028L exm593016 6 161022107 [T/C] NM_005577 LPA EXON Missense_R990Q exm593018 6 161026077 [T/C] NM_005577 LPA Silent exm593019 6 161026078 [A/G] NM_005577 LPA EXON Missense_A982V exm2116107 6 161027512 [G/C] NM_005577 LPA EXON Missense_Q928E exm593030 6 161027551 [T/A] NM_005577 LPA EXON Missense_T915S exm2243448 6 161027658 [T/C] NM_005577 LPA EXON Missense_D879G exm593074 6 161071476 [T/G] NM_005577 LPA EXON Missense_S35R exm-rs1652507 6 161082461 [T/C] NM_005577 LPA Silent exm-rs1084651 6 161089817 [A/G] exm2266364 6 161127501 [A/G] NM_000301,NM_001168338 PLG,PLG EXON Missense_K38E,Missense_K38E exm2263688 6 161128812 [A/G] NM_000301,NM_001168338 PLG,PLG EXON Missense_R89K,Missense_R89K exm2243454 6 161132151 [T/G] NM_000301,NM_001168338 PLG,PLG EXON Missense_R112I,Missense_R112I exm593118 6 161134103 [T/C] NM_000301 PLG EXON Missense_Y165H exm593120 6 161134124 [A/G] NM_000301 PLG EXON Missense_R172G exm2116144 6 161135859 [A/T] NM_000301 PLG EXON Missense_D194V exm593123 6 161135876 [A/G] NM_000301 PLG EXON Missense_T200A exm593130 6 161137746 [A/C] NM_000301 PLG EXON Missense_F246L exm593133 6 161137766 [A/G] NM_000301 PLG EXON Missense_R253H exm593135 6 161137780 [A/G] NM_000301 PLG EXON Missense_D258N exm593136 6 161137790 [A/G] NM_000301 PLG EXON Missense_R261H exm2116154 6 161139798 [A/G] NM_000301 PLG EXON Missense_V342M exm593144 6 161139801 [T/C] NM_000301 PLG EXON Missense_R343W exm593151 6 161143565 [T/C] NM_000301 PLG EXON Missense_R408W exm-rs4252120 6 161143608 [T/C] NM_000301 PLG Silent exm593155 6 161152085 [A/G] NM_000301 PLG EXON Missense_G420D exm593159 6 161152206 [T/A] NM_000301 PLG EXON Missense_S460R exm593166 6 161152807 [A/G] NM_000301 PLG EXON Missense_R490Q exm593167 6 161152819 [T/C] NM_000301 PLG EXON Missense_A494V exm593174 6 161152905 [T/C] NM_000301 PLG EXON Missense_R523W exm593176 6 161155096 [A/G] NM_000301 PLG EXON Missense_D553N exm593178 6 161157972 [A/G] NM_000301 PLG EXON Missense_G579R exm593184 6 161159625 [A/G] NM_000301 PLG EXON Missense_A620T exm593202 6 161162416 [A/G] NM_000301 PLG EXON Missense_E698K exm593203 6 161173155 [A/G] NM_000301 PLG EXON Missense_G712R exm593211 6 161173962 [A/G] NM_000301 PLG EXON Missense_E768K exm-rs1247351 6 161363919 [T/C] exm2270439 6 161383479 [T/C] exm593227 6 161455328 [T/C] NM_005922,NM_006724 MAP3K4,MAP3K4 EXON Missense_P64S,Missense_P64S exm593228 6 161455362 [T/C] NM_005922,NM_006724 MAP3K4,MAP3K4 EXON Missense_T75I,Missense_T75I exm593230 6 161455372 [G/C] NM_005922,NM_006724 MAP3K4,MAP3K4 EXON Missense_E78D,Missense_E78D exm593232 6 161455395 [G/C] NM_005922,NM_006724 MAP3K4,MAP3K4 EXON Missense_P86R,Missense_P86R exm593238 6 161469681 [A/C] NM_005922,NM_006724 MAP3K4,MAP3K4 EXON Missense_K126T,Missense_K126T exm593241 6 161469774 [A/G] NM_005922,NM_006724 MAP3K4,MAP3K4 EXON Missense_R157H,Missense_R157H exm593243 6 161469887 [A/C] NM_005922,NM_006724 MAP3K4,MAP3K4 EXON Missense_N195H,Missense_N195H exm593245 6 161469916 [A/G] NM_005922,NM_006724 MAP3K4,MAP3K4 EXON Missense_M204I,Missense_M204I exm593246 6 161469920 [A/G] NM_005922,NM_006724 MAP3K4,MAP3K4 EXON Missense_I206V,Missense_I206V exm593256 6 161470221 [A/G] NM_005922,NM_006724 MAP3K4,MAP3K4 EXON Missense_G306E,Missense_G306E exm593257 6 161470278 [A/G] NM_005922,NM_006724 MAP3K4,MAP3K4 EXON Missense_Q325R,Missense_Q325R exm593259 6 161470305 [T/C] NM_005922,NM_006724 MAP3K4,MAP3K4 EXON Missense_I334T,Missense_I334T exm593260 6 161470307 [A/G] NM_005922,NM_006724 MAP3K4,MAP3K4 EXON Missense_V335I,Missense_V335I exm593267 6 161470544 [T/G] NM_005922,NM_006724 MAP3K4,MAP3K4 EXON Missense_L414V,Missense_L414V exm593279 6 161470845 [A/G] NM_005922,NM_006724 MAP3K4,MAP3K4 EXON Missense_E514G,Missense_E514G exm593283 6 161491684 [T/G] NM_005922,NM_006724 MAP3K4,MAP3K4 EXON Missense_Q584H,Missense_Q584H exm593305 6 161505577 [A/G] NM_005922,NM_006724 MAP3K4,MAP3K4 EXON Missense_E767G,Missense_E767G exm593316 6 161508880 [A/C] NM_005922,NM_006724 MAP3K4,MAP3K4 EXON Missense_H906P,Missense_H906P exm593327 6 161510427 [T/C] NM_005922,NM_006724 MAP3K4,MAP3K4 EXON Missense_I966T,Missense_I966T exm593328 6 161510439 [T/C] NM_005922,NM_006724 MAP3K4,MAP3K4 EXON Missense_M970T,Missense_M970T exm593331 6 161510472 [T/C] NM_005922,NM_006724 MAP3K4,MAP3K4 EXON Missense_P981L,Missense_P981L exm593335 6 161512446 [A/T] NM_005922,NM_006724 MAP3K4,MAP3K4 EXON Missense_N1003K,Missense_N1003K exm593337 6 161512457 [A/G] NM_005922,NM_006724 MAP3K4,MAP3K4 EXON Missense_R1007H,Missense_R1007H exm593339 6 161512543 [A/G] NM_005922,NM_006724 MAP3K4,MAP3K4 EXON Missense_M1036V,Missense_M1036V exm593340 6 161512547 [T/C] NM_005922,NM_006724 MAP3K4,MAP3K4 EXON Missense_I1037T,Missense_I1037T exm593345 6 161513091 [T/C] NM_005922,NM_006724 MAP3K4,MAP3K4 EXON Missense_I1062T,Missense_I1062T exm593356 6 161519381 [T/C] NM_005922,NM_006724 MAP3K4,MAP3K4 EXON Missense_A1199V,Silent exm593363 6 161522956 [T/C] NM_005922,NM_006724 MAP3K4,MAP3K4 EXON Missense_A1236V,Missense_A1186V exm593389 6 161532868 [A/G] NM_005922,NM_006724 MAP3K4,MAP3K4 EXON Missense_G1466D,Missense_G1416D exm593390 6 161532946 [T/C] NM_005922,NM_006724 MAP3K4,MAP3K4 EXON Missense_A1492V,Missense_A1442V exm593408 6 161560537 [T/C] NM_020133 AGPAT4 EXON Missense_Y320C exm593447 6 161575234 [T/G] NM_020133 AGPAT4 EXON Missense_K153Q exm593461 6 161653073 [T/G] NM_020133 AGPAT4 EXON Nonsense_S58X exm593465 6 161653235 [A/G] NM_020133 AGPAT4 EXON Missense_A4V exm593474 6 161771240 [T/C] NM_013988,NM_004562,NM_013987 PARK2,PARK2,PARK2 EXON Missense_G281D,Missense_G430D,Missense_G402D exm593478 6 161781201 [A/G] NM_013988,NM_004562,NM_013987 PARK2,PARK2,PARK2 EXON Missense_R253C,Missense_R402C,Missense_R374C exm593479 6 161781225 [T/C] NM_013988,NM_004562,NM_013987 PARK2,PARK2,PARK2 EXON Missense_D245N,Missense_D394N,Missense_D366N exm593482 6 161807855 [C/G] NM_013988,NM_004562,NM_013987 PARK2,PARK2,PARK2 EXON Missense_V231L,Missense_V380L,Missense_V352L exm593488 6 161807897 [A/G] NM_013988,NM_004562,NM_013987 PARK2,PARK2,PARK2 EXON Missense_R217W,Missense_R366W,Missense_R338W exm2266278 6 161974956 [A/G] NM_013988,NM_004562,NM_013987 PARK2,PARK2,PARK2 Silent,Silent,Silent exm593495 6 161990390 [G/C] NM_013988,NM_004562,NM_013987 PARK2,PARK2,PARK2 EXON Missense_E161D,Missense_E310D,Missense_E282D exm-rs10484813 6 162093140 [A/G] NM_013988,NM_004562,NM_013987 PARK2,PARK2,PARK2 Silent,Silent,Silent exm2270539 6 162148335 [T/C] NM_013988,NM_004562,NM_013987 PARK2,PARK2,PARK2 Silent,Silent,Silent exm593505 6 162206852 [A/G] NM_013988,NM_004562,NM_013987 PARK2,PARK2,PARK2 EXON Missense_R126W,Missense_R275W,Missense_R247W exm593508 6 162206876 [A/G] NM_013988,NM_004562,NM_013987 PARK2,PARK2,PARK2 EXON Missense_Y118H,Missense_Y267H,Missense_Y239H exm593509 6 162206882 [A/G] NM_013988,NM_004562,NM_013987 PARK2,PARK2,PARK2 EXON Missense_H116Y,Missense_H265Y,Missense_H237Y exm593511 6 162206909 [A/G] NM_013988,NM_004562,NM_013987 PARK2,PARK2,PARK2 EXON Missense_R107C,Missense_R256C,Missense_R228C exm-rs3016539 6 162236075 [T/C] NM_013988,NM_004562,NM_013987 PARK2,PARK2,PARK2 Silent,Silent,Silent exm593515 6 162394341 [T/C] NM_013988,NM_004562,NM_013987 PARK2,PARK2,PARK2 EXON Missense_D94N,Missense_D243N,Missense_D215N exm593516 6 162394349 [A/G] NM_013988,NM_004562,NM_013987 PARK2,PARK2,PARK2 EXON Missense_T91M,Missense_T240M,Missense_T212M exm593518 6 162394367 [T/C] NM_013988,NM_004562,NM_013987 PARK2,PARK2,PARK2 EXON Missense_R85Q,Missense_R234Q,Missense_R206Q exm2257644 6 162470941 [A/G] NM_013988,NM_004562,NM_013987 PARK2,PARK2,PARK2 Silent,Silent,Silent exm593520 6 162475127 [T/C] NM_013988,NM_004562,NM_013987 PARK2,PARK2,PARK2 EXON Silent,Missense_S205N,Silent exm593521 6 162475167 [T/G] NM_013988,NM_004562,NM_013987 PARK2,PARK2,PARK2 EXON Silent,Missense_M192L,Silent exm593525 6 162475190 [A/T] NM_013988,NM_004562,NM_013987 PARK2,PARK2,PARK2 EXON Silent,Missense_D184V,Silent exm593532 6 162622197 [T/C] NM_013988,NM_004562,NM_013987 PARK2,PARK2,PARK2 EXON Silent,Missense_S167N,Missense_S167N exm593536 6 162622239 [C/G] NM_013988,NM_004562,NM_013987 PARK2,PARK2,PARK2 EXON Silent,Missense_P153R,Missense_P153R exm593541 6 162683586 [T/C] NM_013988,NM_004562,NM_013987 PARK2,PARK2,PARK2 EXON Silent,Missense_R128K,Missense_R128K exm593550 6 162683724 [T/G] NM_013988,NM_004562,NM_013987 PARK2,PARK2,PARK2 EXON Silent,Missense_A82E,Missense_A82E exm593563 6 162864403 [A/G] NM_013988,NM_004562,NM_013987 PARK2,PARK2,PARK2 EXON Missense_P37L,Missense_P37L,Missense_P37L exm593564 6 162864412 [T/C] NM_013988,NM_004562,NM_013987 PARK2,PARK2,PARK2 EXON Missense_Q34R,Missense_Q34R,Missense_Q34R exm593567 6 162864461 [T/C] NM_013988,NM_004562,NM_013987 PARK2,PARK2,PARK2 EXON Missense_D18N,Missense_D18N,Missense_D18N exm2257645 6 162920212 [T/C] NM_013988,NM_004562,NM_013987 PARK2,PARK2,PARK2 Silent,Silent,Silent exm593577 6 163149317 [T/C] NM_001080378,NM_152410,NM_001080379 PACRG,PACRG,PACRG EXON Missense_M17T,Missense_M17T,Missense_M17T exm2266356 6 163326692 [A/G] NM_001080378,NM_152410,NM_001080379 PACRG,PACRG,PACRG Silent,Silent,Silent exm2266280 6 163354979 [A/G] NM_001080378,NM_152410,NM_001080379 PACRG,PACRG,PACRG Silent,Silent,Silent exm2266281 6 163697439 [A/G] NM_001080378,NM_152410,NM_001080379 PACRG,PACRG,PACRG Silent,Silent,Silent exm593611 6 163735877 [T/C] NM_001080378,NM_152410,NM_001080379,NR_028390 PACRG,PACRG,PACRG,PACRG-AS1 EXON Missense_I211T,Missense_I250T,Missense_I211T,Silent exm593617 6 163735945 [T/C] NM_001080378,NM_152410,NM_001080379,NR_028390 PACRG,PACRG,PACRG,PACRG-AS1 EXON Missense_R234C,Missense_R273C,Missense_R234C,Silent exm593618 6 163735946 [A/G] NM_001080378,NM_152410,NM_001080379,NR_028390 PACRG,PACRG,PACRG,PACRG-AS1 EXON Missense_R234H,Missense_R273H,Missense_R234H,Silent exm593626 6 163876332 [A/G] NM_206853,NM_206855,NM_006775,NM_206854 QKI,QKI,QKI,QKI EXON Missense_D55G,Missense_D55G,Missense_D55G,Missense_D55G exm-rs10945919 6 164186677 [A/G] exm2257647 6 164340663 [A/G] exm2270540 6 164421002 [T/C] exm2270441 6 164538607 [T/C] exm-rs4709845 6 164900598 [A/G] exm2266283 6 165262895 [A/G] exm-rs9355518 6 165367973 [T/G] exm2262088 6 165493183 [A/G] exm593659 6 165693571 [T/C] NM_144980 C6orf118 EXON Missense_C462Y exm593660 6 165693584 [A/G] NM_144980 C6orf118 EXON Missense_Y458H exm593661 6 165693598 [A/C] NM_144980 C6orf118 EXON Missense_G453V exm593672 6 165703524 [A/G] NM_144980 C6orf118 EXON Nonsense_R385X exm593686 6 165711487 [A/G] NM_144980 C6orf118 EXON Missense_A347V exm593691 6 165711544 [A/G] NM_144980 C6orf118 EXON Missense_T328M exm593692 6 165711553 [A/G] NM_144980 C6orf118 EXON Missense_P325L exm593693 6 165711560 [T/G] NM_144980 C6orf118 EXON Missense_Q323K exm593697 6 165712942 [C/G] NM_144980 C6orf118 EXON Missense_A309G exm593698 6 165712966 [A/G] NM_144980 C6orf118 EXON Missense_T301M exm593702 6 165713911 [T/A] NM_144980 C6orf118 EXON Missense_V273D exm593703 6 165713917 [T/C] NM_144980 C6orf118 EXON Missense_G271E exm2116462 6 165713921 [A/G] NM_144980 C6orf118 EXON Missense_F270L exm593707 6 165713961 [A/C] NM_144980 C6orf118 EXON Missense_I256M exm593720 6 165715314 [A/C] NM_144980 C6orf118 EXON Missense_R166L exm593722 6 165715359 [A/G] NM_144980 C6orf118 EXON Missense_A151V exm593733 6 165715464 [A/G] NM_144980 C6orf118 EXON Missense_T116M exm593745 6 165715602 [T/C] NM_144980 C6orf118 EXON Missense_Y70C exm593748 6 165715654 [A/G] NM_144980 C6orf118 EXON Missense_R53W exm593752 6 165715713 [A/G] NM_144980 C6orf118 EXON Missense_P33L exm593759 6 165723066 [T/C] NM_144980 C6orf118 EXON Missense_E4K exm593777 6 165752812 [A/C] NR_045597,NM_001130690 PDE10A,PDE10A EXON Silent,Missense_I711M exm593780 6 165756927 [T/C] NR_045597,NM_001130690 PDE10A,PDE10A EXON Silent,Missense_V684I exm2257649 6 165798068 [A/C] NR_045597,NM_001130690 PDE10A,PDE10A Silent,Silent exm593800 6 165808688 [T/C] NR_045597,NM_001130690 PDE10A,PDE10A EXON Silent,Missense_R496Q exm593801 6 165808695 [T/C] NR_045597,NM_001130690 PDE10A,PDE10A EXON Silent,Missense_V494I exm593803 6 165808716 [C/G] NR_045597,NM_001130690 PDE10A,PDE10A EXON Silent,Missense_P487A exm593832 6 165846577 [T/G] NR_045597,NM_001130690 PDE10A,PDE10A EXON Silent,Missense_T193N exm2270541 6 165933673 [T/C] NR_045597,NM_001130690 PDE10A,PDE10A Silent,Silent exm2257650 6 166015231 [A/G] NR_045597,NM_001130690 PDE10A,PDE10A Silent,Silent exm-rs7762160 6 166015431 [T/C] NR_045597,NM_001130690 PDE10A,PDE10A Silent,Silent exm2270442 6 166570346 [T/C] exm593872 6 166571840 [A/G] NM_003181,NM_001270484 T,T EXON Missense_I424T,Missense_I366T exm593878 6 166571907 [T/C] NM_003181,NM_001270484 T,T EXON Missense_E402K,Missense_E344K exm593892 6 166572039 [T/C] NM_003181,NM_001270484 T,T EXON Missense_V358I,Missense_V300I exm593893 6 166572045 [T/C] NM_003181,NM_001270484 T,T EXON Missense_G356S,Missense_G298S exm593898 6 166574346 [A/G] NM_003181,NM_001270484 T,T EXON Missense_A338V,Missense_A280V exm593917 6 166579253 [T/G] NM_003181,NM_001270484 T,T EXON Missense_T183P,Missense_T183P exm593918 6 166579270 [T/C] NM_003181,NM_001270484 T,T EXON Missense_G177D,Missense_G177D exm-rs6915183 6 166706169 [A/G] exm593942 6 166720807 [G/C] NM_175922 PRR18 EXON Missense_S275C exm593996 6 166743706 [T/G] NM_145169 SFT2D1 EXON Missense_N31K exm593997 6 166743735 [T/C] NM_145169 SFT2D1 EXON Missense_V22I exm2116552 6 166755933 [C/G] NM_145169 SFT2D1 EXON Missense_D13H exm594004 6 166778930 [A/G] NM_016098,NM_001270879,NR_073093 MPC1,MPC1,MPC1 EXON Missense_R106W,Missense_T63M,Silent exm594006 6 166779464 [A/G] NM_016098,NM_001270879,NR_073093 MPC1,MPC1,MPC1 EXON Missense_T101M,Synonymous_H58H,Silent exm594007 6 166779540 [T/C] NM_016098,NM_001270879,NR_073093 MPC1,MPC1,MPC1 EXON Missense_G76R,Missense_R33Q,Silent exm594046 6 166836744 [T/C] NM_021135,NM_001006932 RPS6KA2,RPS6KA2 EXON Synonymous_E581E,Synonymous_E589E exm594066 6 166844053 [T/C] NM_021135,NM_001006932 RPS6KA2,RPS6KA2 EXON Missense_R490H,Missense_R498H exm594070 6 166845906 [T/C] NM_021135,NM_001006932 RPS6KA2,RPS6KA2 EXON Missense_I469V,Missense_I477V exm2266358 6 166860996 [A/G] NM_021135,NM_001006932 RPS6KA2,RPS6KA2 Silent,Silent exm594078 6 166864686 [A/G] NM_021135,NM_001006932 RPS6KA2,RPS6KA2 EXON Missense_H371Y,Missense_H379Y exm594103 6 166902377 [G/C] NM_021135,NM_001006932 RPS6KA2,RPS6KA2 EXON Missense_G284A,Missense_G292A exm594138 6 167040476 [T/C] NM_021135,NM_001006932 RPS6KA2,RPS6KA2 EXON Missense_R11H,Silent exm2266285 6 167079111 [A/G] NM_001006932 RPS6KA2 Silent exm2270542 6 167267919 [T/G] NM_001006932 RPS6KA2 Silent exm594144 6 167271711 [T/C] NM_001006932 RPS6KA2 EXON Missense_T34A exm594146 6 167271716 [T/C] NM_001006932 RPS6KA2 EXON Missense_E32G exm594153 6 167343106 [T/G] NM_003730 RNASET2 EXON Missense_F247L exm594155 6 167343141 [A/G] NM_003730 RNASET2 EXON Missense_R236W exm594156 6 167343150 [T/C] NM_003730 RNASET2 EXON Missense_A233T exm594158 6 167343167 [G/C] NM_003730 RNASET2 EXON Missense_W227S exm594160 6 167343185 [T/G] NM_003730 RNASET2 EXON Missense_S221Y exm2116636 6 167343195 [T/C] NM_003730 RNASET2 EXON Missense_E218K exm2257653 6 167343199 [T/C] NM_003730 RNASET2 EXON Synonymous_P216P exm594162 6 167343204 [T/C] NM_003730 RNASET2 EXON Missense_E215K exm2116641 6 167352408 [G/C] NM_003730 RNASET2 EXON Missense_L141V exm594188 6 167356519 [T/C] NM_003730 RNASET2 EXON Missense_R107H exm594193 6 167360217 [T/C] NM_003730 RNASET2 EXON Missense_S72G exm-rs2236313 6 167360389 [T/C] NM_003730 RNASET2 Silent exm-rs415890 6 167406633 [G/C] exm594216 6 167412913 [A/G] NM_007045,NM_194429 FGFR1OP,FGFR1OP EXON Missense_A5T,Missense_A5T exm594225 6 167416734 [T/C] NM_007045,NM_194429 FGFR1OP,FGFR1OP EXON Synonymous_D70D,Synonymous_D70D exm594230 6 167417266 [T/G] NM_007045,NM_194429 FGFR1OP,FGFR1OP EXON Missense_F89L,Missense_F89L exm594234 6 167417775 [T/G] NM_007045,NM_194429 FGFR1OP,FGFR1OP EXON Missense_E108D,Missense_E108D exm594235 6 167417785 [T/C] NM_007045,NM_194429 FGFR1OP,FGFR1OP EXON Nonsense_R112X,Nonsense_R112X exm594236 6 167417786 [A/G] NM_007045,NM_194429 FGFR1OP,FGFR1OP EXON Missense_R112Q,Missense_R112Q exm594247 6 167427045 [G/C] NM_007045,NM_194429 FGFR1OP,FGFR1OP EXON Missense_A190G,Silent exm594249 6 167435928 [T/C] NM_007045,NM_194429 FGFR1OP,FGFR1OP EXON Missense_T204I,Missense_T184I exm594250 6 167435941 [C/G] NM_007045,NM_194429 FGFR1OP,FGFR1OP EXON Missense_L208F,Missense_L188F exm-rs2301436 6 167437988 [T/C] NM_007045,NM_194429 FGFR1OP,FGFR1OP Silent,Silent exm594257 6 167438276 [T/G] NM_007045,NM_194429 FGFR1OP,FGFR1OP EXON Missense_K271N,Missense_K251N exm594259 6 167438292 [C/G] NM_007045,NM_194429 FGFR1OP,FGFR1OP EXON Missense_A277P,Missense_A257P exm594263 6 167438338 [A/G] NM_007045,NM_194429 FGFR1OP,FGFR1OP EXON Missense_G292E,Missense_G272E exm2243480 6 167446096 [A/G] NM_007045,NM_194429 FGFR1OP,FGFR1OP EXON Missense_G332R,Missense_G312R exm594277 6 167453435 [T/A] NM_007045,NM_194429 FGFR1OP,FGFR1OP EXON Missense_D390V,Missense_D370V exm594278 6 167453441 [T/C] NM_007045,NM_194429 FGFR1OP,FGFR1OP EXON Missense_A392V,Missense_A372V exm-rs3093024 6 167532793 [A/G] NM_004367 CCR6 Silent exm-rs3093023 6 167534290 [A/G] NM_004367 CCR6 Silent exm594285 6 167549755 [A/G] NM_004367,NM_031409 CCR6,CCR6 EXON Missense_D13N,Missense_D13N exm594295 6 167549983 [A/G] NM_004367,NM_031409 CCR6,CCR6 EXON Missense_A89T,Missense_A89T exm594302 6 167550167 [T/C] NM_004367,NM_031409 CCR6,CCR6 EXON Missense_A150V,Missense_A150V exm594321 6 167550751 [A/G] NM_004367,NM_031409 CCR6,CCR6 EXON Missense_G345S,Missense_G345S exm594326 6 167550824 [T/C] NM_004367,NM_031409 CCR6,CCR6 EXON Missense_A369V,Missense_A369V exm594333 6 167570419 [A/G] NM_005299 GPR31 EXON Nonsense_R301X exm594336 6 167570520 [A/G] NM_005299 GPR31 EXON Missense_T267M exm594338 6 167570529 [A/G] NM_005299 GPR31 EXON Missense_S264L exm594341 6 167570589 [A/G] NM_005299 GPR31 EXON Missense_L244P exm594345 6 167570686 [T/C] NM_005299 GPR31 EXON Missense_E212K exm594351 6 167570789 [T/C] NM_005299 GPR31 EXON Nonsense_W177X exm594354 6 167570864 [G/C] NM_005299 GPR31 EXON Missense_I152M exm594365 6 167570961 [T/C] NM_005299 GPR31 EXON Missense_R120Q exm594367 6 167570977 [A/G] NM_005299 GPR31 EXON Missense_R115C exm594368 6 167570985 [T/C] NM_005299 GPR31 EXON Missense_R112Q exm594370 6 167571027 [T/C] NM_005299 GPR31 EXON Missense_R98H exm594371 6 167571030 [T/C] NM_005299 GPR31 EXON Missense_S97N exm594436 6 167704994 [A/G] NM_018974,NM_001143947 UNC93A,UNC93A EXON Missense_R6K,Missense_R6K exm594449 6 167708132 [T/C] NM_018974,NM_001143947 UNC93A,UNC93A EXON Missense_I72T,Missense_I72T exm594465 6 167709603 [T/C] NM_018974,NM_001143947 UNC93A,UNC93A EXON Missense_T118M,Missense_T118M exm594467 6 167709632 [A/C] NM_018974,NM_001143947 UNC93A,UNC93A EXON Missense_K128Q,Missense_K128Q exm594472 6 167709695 [A/G] NM_018974,NM_001143947 UNC93A,UNC93A EXON Missense_G149S,Missense_G149S exm594473 6 167709702 [A/G] NM_018974,NM_001143947 UNC93A,UNC93A EXON Nonsense_W151X,Nonsense_W151X exm594474 6 167709705 [A/G] NM_018974,NM_001143947 UNC93A,UNC93A EXON Missense_G152D,Missense_G152D exm594482 6 167711466 [A/G] NM_018974,NM_001143947 UNC93A,UNC93A EXON Missense_G178E,Silent exm594491 6 167717440 [T/C] NM_018974,NM_001143947 UNC93A,UNC93A EXON Missense_A220V,Missense_A178V exm594497 6 167717457 [T/C] NM_018974,NM_001143947 UNC93A,UNC93A EXON Nonsense_R226X,Nonsense_R184X exm594499 6 167717469 [T/C] NM_018974,NM_001143947 UNC93A,UNC93A EXON Missense_R230W,Missense_R188W exm594501 6 167717473 [A/C] NM_018974,NM_001143947 UNC93A,UNC93A EXON Missense_E231A,Missense_E189A exm594521 6 167719436 [A/G] NM_018974,NM_001143947 UNC93A,UNC93A EXON Missense_V292I,Missense_V250I exm594523 6 167719439 [A/G] NM_018974,NM_001143947 UNC93A,UNC93A EXON Missense_G293S,Missense_G251S exm594531 6 167719484 [A/G] NM_018974,NM_001143947 UNC93A,UNC93A EXON Missense_V308M,Missense_V266M exm594539 6 167719539 [A/G] NM_018974,NM_001143947 UNC93A,UNC93A Silent,Silent exm594545 6 167721268 [T/C] NM_018974,NM_001143947 UNC93A,UNC93A EXON Synonymous_G326G,Synonymous_G284G exm594546 6 167721269 [A/G] NM_018974,NM_001143947 UNC93A,UNC93A EXON Missense_A327T,Missense_A285T exm594590 6 167738668 [A/G] NM_031949 TTLL2 EXON Missense_G3R exm594591 6 167738671 [T/C] NM_031949 TTLL2 EXON Missense_R4W exm594613 6 167753659 [A/G] NM_031949 TTLL2 EXON Missense_V91I exm594615 6 167753675 [T/C] NM_031949 TTLL2 EXON Missense_P96L exm594624 6 167753780 [A/G] NM_031949 TTLL2 EXON Missense_R131Q exm594625 6 167753788 [A/G] NM_031949 TTLL2 EXON Missense_E134K exm594626 6 167753791 [A/C] NM_031949 TTLL2 EXON Missense_H135N exm594627 6 167753792 [A/G] NM_031949 TTLL2 EXON Missense_H135R exm594629 6 167753807 [T/C] NM_031949 TTLL2 EXON Missense_P140L exm-IND6-167673849 6 167753860 [I/D] NM_031949 TTLL2 EXON exm2116769 6 167753894 [T/G] NM_031949 TTLL2 EXON Missense_M169R exm594636 6 167753930 [T/C] NM_031949 TTLL2 EXON Missense_T181M exm594646 6 167754133 [A/T] NM_031949 TTLL2 EXON Missense_I249F exm2116773 6 167754158 [A/G] NM_031949 TTLL2 EXON Missense_R257H exm594656 6 167754341 [A/G] NM_031949 TTLL2 EXON Missense_H318R exm594661 6 167754401 [A/G] NM_031949 TTLL2 EXON Missense_D338G exm594662 6 167754419 [A/C] NM_031949 TTLL2 EXON Missense_K344T exm594669 6 167754454 [A/G] NM_031949 TTLL2 EXON Missense_I356V exm594676 6 167754551 [A/G] NM_031949 TTLL2 EXON Missense_N388S exm594683 6 167754661 [A/G] NM_031949 TTLL2 EXON Missense_R425G exm594687 6 167754710 [A/C] NM_031949 TTLL2 EXON Missense_K441T exm594689 6 167754721 [A/G] NM_031949 TTLL2 EXON Missense_G445S exm594697 6 167754844 [T/C] NM_031949 TTLL2 EXON Missense_S486P exm594699 6 167754922 [T/C] NM_031949 TTLL2 EXON Missense_R512W exm594705 6 167754977 [T/C] NM_031949 TTLL2 EXON Missense_S530L exm2257659 6 167755032 [T/C] NM_031949 TTLL2 EXON Synonymous_A548A exm594712 6 167755063 [A/G] NM_031949 TTLL2 EXON Missense_V559I exm594714 6 167755090 [A/G] NM_031949 TTLL2 EXON Missense_G568R exm594715 6 167755148 [T/C] NM_031949 TTLL2 EXON Missense_M587T exm594733 6 167786743 [T/C] NM_004610 TCP10 EXON Missense_A299T exm594754 6 167789455 [A/G] NM_004610 TCP10 EXON Synonymous_A229A exm2266286 6 167809771 [A/G] exm2264189 6 168096647 [A/C] exm594865 6 168265340 [T/C] NM_001207008,NM_001040000 MLLT4,MLLT4 EXON Missense_I72T,Missense_I72T exm594874 6 168272985 [T/A] NM_001207008,NM_001040000 MLLT4,MLLT4 EXON Missense_K168I,Missense_K169I exm594879 6 168276057 [A/G] NM_001207008,NM_001040000 MLLT4,MLLT4 EXON Synonymous_P206P,Synonymous_P207P exm2257662 6 168276057 [A/G] NM_001207008,NM_001040000 MLLT4,MLLT4 EXON Synonymous_P206P,Synonymous_P207P exm594887 6 168281125 [G/C] NM_001207008,NM_001040000 MLLT4,MLLT4 EXON Missense_D274E,Missense_D275E exm2116842 6 168294583 [A/G] NM_001207008,NM_001040000 MLLT4,MLLT4 EXON Silent,Missense_E407K exm594904 6 168297642 [A/G] NM_001207008,NM_001040000 MLLT4,MLLT4 EXON Missense_N420S,Missense_N436S exm594905 6 168297647 [A/G] NM_001207008,NM_001040000 MLLT4,MLLT4 EXON Missense_I422V,Missense_I438V exm594910 6 168298963 [A/G] NM_001207008,NM_001040000 MLLT4,MLLT4 EXON Missense_M450V,Missense_M466V exm594911 6 168298978 [T/G] NM_001207008,NM_001040000 MLLT4,MLLT4 EXON Missense_Y455D,Missense_Y471D exm594914 6 168299135 [A/G] NM_001207008,NM_001040000 MLLT4,MLLT4 EXON Missense_R507K,Missense_R523K exm594917 6 168303035 [T/C] NM_001207008,NM_001040000 MLLT4,MLLT4 EXON Missense_I524T,Missense_I540T exm594926 6 168307921 [T/C] NM_001207008,NM_001040000 MLLT4,MLLT4 EXON Missense_P558L,Missense_P574L exm594932 6 168312075 [A/G] NM_001207008,NM_001040000 MLLT4,MLLT4 EXON Missense_N632S,Missense_N648S exm594937 6 168312157 [C/G] NM_001207008,NM_001040000 MLLT4,MLLT4 EXON Missense_E659D,Missense_E675D exm594941 6 168314927 [A/G] NM_001207008,NM_001040000 MLLT4,MLLT4 EXON Missense_R690Q,Missense_R706Q exm594943 6 168314939 [A/G] NM_001207008,NM_001040000 MLLT4,MLLT4 EXON Missense_R694Q,Missense_R710Q exm594957 6 168316046 [T/C] NM_001207008,NM_001040000 MLLT4,MLLT4 EXON Missense_I810T,Missense_I826T exm594972 6 168323616 [T/C] NM_001207008,NM_001040000 MLLT4,MLLT4 EXON Missense_L974F,Missense_L990F exm594992 6 168348559 [A/G] NM_001207008,NM_001040000 MLLT4,MLLT4 EXON Missense_S1170G,Missense_S1187G exm594993 6 168348572 [T/C] NM_001207008,NM_001040000 MLLT4,MLLT4 EXON Missense_S1174F,Missense_S1191F exm594994 6 168348583 [A/G] NM_001207008,NM_001040000 MLLT4,MLLT4 EXON Missense_A1178T,Missense_A1195T exm595002 6 168349074 [T/G] NM_001207008,NM_001040000 MLLT4,MLLT4 EXON Missense_M1225I,Missense_M1242I exm595011 6 168351867 [A/G] NM_001207008,NM_001040000 MLLT4,MLLT4 EXON Missense_R1254H,Missense_R1271H exm595012 6 168351873 [T/C] NM_001207008,NM_001040000 MLLT4,MLLT4 EXON Missense_T1256I,Missense_T1273I exm595016 6 168351978 [A/T] NM_001207008,NM_001040000 MLLT4,MLLT4 EXON Missense_Q1291L,Missense_Q1308L exm595018 6 168352080 [A/G] NM_001207008,NM_001040000 MLLT4,MLLT4 EXON Missense_R1325H,Missense_R1342H exm595044 6 168352445 [A/C] NM_001207008,NM_001040000 MLLT4,MLLT4 EXON Missense_P1447T,Missense_P1464T exm595046 6 168352449 [A/G] NM_001207008,NM_001040000 MLLT4,MLLT4 EXON Missense_E1448G,Missense_E1465G exm595056 6 168352586 [C/G] NM_001207008,NM_001040000 MLLT4,MLLT4 EXON Missense_L1494V,Missense_L1511V exm595062 6 168352727 [C/G] NM_001207008,NM_001040000 MLLT4,MLLT4 EXON Missense_R1541G,Missense_R1558G exm595076 6 168363113 [T/C] NM_001207008,NM_001040000 MLLT4,MLLT4 EXON Synonymous_L1588L,Silent exm595077 6 168363129 [A/G] NM_001207008,NM_001040000 MLLT4,MLLT4 EXON Missense_R1593Q,Missense_R1608Q exm595085 6 168366482 [T/C] NM_001207008 MLLT4 EXON Missense_R1648C exm595104 6 168370491 [A/G] NM_001207008 MLLT4 EXON Missense_G1703E exm595106 6 168370548 [A/C] NM_001207008 MLLT4 EXON Missense_D1722A exm595197 6 168431475 [A/C] NM_005355,NM_030615 KIF25,KIF25 EXON Missense_Q39K,Missense_Q39K exm595198 6 168431481 [A/G] NM_005355,NM_030615 KIF25,KIF25 EXON Missense_A41T,Missense_A41T exm595207 6 168434641 [A/G] NM_005355,NM_030615 KIF25,KIF25 EXON Missense_G83S,Missense_G83S exm595208 6 168434661 [A/C] NM_005355,NM_030615 KIF25,KIF25 EXON Missense_D89E,Missense_D89E exm595213 6 168434704 [A/C] NM_005355,NM_030615 KIF25,KIF25 EXON Missense_L104I,Missense_L104I exm595216 6 168439279 [A/G] NM_005355,NM_030615 KIF25,KIF25 EXON Missense_I122V,Missense_I122V exm595220 6 168439301 [A/G] NM_005355,NM_030615 KIF25,KIF25 EXON Missense_D129G,Missense_D129G exm595221 6 168439333 [T/G] NM_005355,NM_030615 KIF25,KIF25 EXON Missense_A140S,Missense_A140S exm595223 6 168439373 [A/C] NM_005355,NM_030615 KIF25,KIF25 EXON Missense_K153T,Missense_K153T exm595224 6 168439381 [T/C] NM_005355,NM_030615 KIF25,KIF25 EXON Missense_R156W,Missense_R156W exm595225 6 168439394 [T/C] NM_005355,NM_030615 KIF25,KIF25 EXON Missense_A160V,Missense_A160V exm595228 6 168440753 [A/G] NM_005355,NM_030615 KIF25,KIF25 EXON Missense_G168D,Missense_G168D exm2116943 6 168440832 [T/A] NM_005355,NM_030615 KIF25,KIF25 EXON Missense_D194E,Missense_D194E exm595241 6 168440839 [A/G] NM_005355,NM_030615 KIF25,KIF25 EXON Missense_R197G,Missense_R197G exm595247 6 168442682 [A/G] NM_005355,NM_030615 KIF25,KIF25 EXON Missense_E227G,Missense_E227G exm595248 6 168442687 [A/C] NM_005355,NM_030615 KIF25,KIF25 EXON Missense_T229P,Missense_T229P exm595253 6 168442765 [A/G] NM_005355,NM_030615 KIF25,KIF25 EXON Missense_A255T,Missense_A255T exm595254 6 168442775 [A/C] NM_005355,NM_030615 KIF25,KIF25 EXON Missense_A258E,Missense_A258E exm595255 6 168442793 [G/C] NM_005355,NM_030615 KIF25,KIF25 EXON Missense_R264P,Missense_R264P exm595260 6 168443241 [A/G] NM_005355,NM_030615 KIF25,KIF25 EXON Silent,Missense_G277D exm595262 6 168443267 [G/C] NM_005355,NM_030615 KIF25,KIF25 EXON Silent,Missense_L286V exm595266 6 168443315 [A/G] NM_005355,NM_030615 KIF25,KIF25 EXON Silent,Missense_V302I exm2116955 6 168443330 [T/C] NM_005355,NM_030615 KIF25,KIF25 EXON Silent,Synonymous_L307L exm595273 6 168443357 [T/C] NM_005355,NM_030615 KIF25,KIF25 EXON Silent,Missense_R316W exm595277 6 168445510 [T/G] NM_005355,NM_030615 KIF25,KIF25 EXON Missense_G278V,Missense_G330V exm2257663 6 168445571 [A/G] NM_005355,NM_030615 KIF25,KIF25 EXON Synonymous_T298T,Synonymous_T350T exm595288 6 168445615 [A/G] NM_005355,NM_030615 KIF25,KIF25 EXON Missense_R313Q,Missense_R365Q exm595294 6 168445769 [T/C] NM_005355,NM_030615 KIF25,KIF25 EXON Silent,Silent exm595299 6 168457824 [T/C] NM_001122841,NM_024919 FRMD1,FRMD1 EXON Missense_A467T,Missense_A535T exm595301 6 168457869 [T/C] NM_001122841,NM_024919 FRMD1,FRMD1 EXON Missense_E452K,Missense_E520K exm595305 6 168457901 [T/C] NM_001122841,NM_024919 FRMD1,FRMD1 EXON Missense_R441H,Missense_R509H exm595307 6 168457955 [T/A] NM_001122841,NM_024919 FRMD1,FRMD1 EXON Missense_L423Q,Missense_L491Q exm2243497 6 168459835 [A/G] NM_001122841,NM_024919 FRMD1,FRMD1 EXON Missense_T391I,Missense_T459I exm595317 6 168459845 [C/G] NM_001122841,NM_024919 FRMD1,FRMD1 EXON Missense_Q388E,Missense_Q456E exm595323 6 168461474 [A/G] NM_001122841,NM_024919 FRMD1,FRMD1 EXON Missense_R369C,Missense_R437C exm595325 6 168461509 [T/G] NM_001122841,NM_024919 FRMD1,FRMD1 EXON Missense_H357P,Missense_H425P exm595329 6 168461534 [T/C] NM_001122841,NM_024919 FRMD1,FRMD1 EXON Missense_V349M,Missense_V417M exm2257664 6 168461613 [T/G] NM_001122841,NM_024919 FRMD1,FRMD1 EXON Synonymous_A322A,Synonymous_A390A exm595336 6 168461634 [T/G] NM_001122841,NM_024919 FRMD1,FRMD1 EXON Missense_H315Q,Missense_H383Q exm595353 6 168462566 [G/C] NM_001122841,NM_024919 FRMD1,FRMD1 EXON Missense_H254Q,Missense_H322Q exm595356 6 168462604 [A/G] NM_001122841,NM_024919 FRMD1,FRMD1 EXON Missense_Y242H,Missense_Y310H exm595357 6 168462625 [T/C] NM_001122841,NM_024919 FRMD1,FRMD1 EXON Missense_A235T,Missense_A303T exm595363 6 168463623 [T/C] NM_001122841,NM_024919 FRMD1,FRMD1 EXON Missense_R206H,Missense_R274H exm595364 6 168463624 [A/G] NM_001122841,NM_024919 FRMD1,FRMD1 EXON Missense_R206C,Missense_R274C exm595365 6 168464304 [T/C] NM_001122841,NM_024919 FRMD1,FRMD1 EXON Missense_V193M,Missense_V261M exm595367 6 168464310 [T/C] NM_001122841,NM_024919 FRMD1,FRMD1 EXON Missense_V191M,Missense_V259M exm595372 6 168464378 [T/C] NM_001122841,NM_024919 FRMD1,FRMD1 EXON Missense_E168G,Missense_E236G exm595373 6 168464381 [T/C] NM_001122841,NM_024919 FRMD1,FRMD1 EXON Missense_R167H,Missense_R235H exm595374 6 168464382 [A/G] NM_001122841,NM_024919 FRMD1,FRMD1 EXON Missense_R167C,Missense_R235C exm595381 6 168465594 [T/C] NM_001122841,NM_024919 FRMD1,FRMD1 EXON Missense_H134R,Missense_H202R exm595385 6 168465634 [T/C] NM_001122841,NM_024919 FRMD1,FRMD1 EXON Missense_A121T,Missense_A189T exm2116979 6 168465667 [A/G] NM_001122841,NM_024919 FRMD1,FRMD1 EXON Missense_R110W,Missense_R178W exm595391 6 168465693 [T/C] NM_001122841,NM_024919 FRMD1,FRMD1 EXON Missense_R101H,Missense_R169H exm595393 6 168465737 [A/G] NM_001122841,NM_024919 FRMD1,FRMD1 EXON Synonymous_S86S,Synonymous_S154S exm595400 6 168467448 [T/C] NM_001122841,NM_024919 FRMD1,FRMD1 EXON Missense_G82R,Missense_G150R exm595402 6 168467472 [A/G] NM_001122841,NM_024919 FRMD1,FRMD1 EXON Nonsense_R74X,Nonsense_R142X exm595405 6 168467512 [A/C] NM_001122841,NM_024919 FRMD1,FRMD1 Silent,Silent exm595418 6 168475974 [T/G] NM_001122841,NM_024919 FRMD1,FRMD1 EXON Missense_N17K,Missense_N85K exm595426 6 168479588 [A/G] NM_024919 FRMD1 EXON Missense_R63W exm595430 6 168479611 [T/C] NM_024919 FRMD1 EXON Missense_D55G exm595436 6 168479664 [C/G] NM_024919 FRMD1 EXON Missense_C37W exm595440 6 168479734 [T/C] NM_024919 FRMD1 EXON Missense_R14Q exm2262092 6 168506045 [T/G] exm595458 6 168708369 [T/A] NM_214462 DACT2 EXON Missense_T690S exm595459 6 168708377 [T/C] NM_214462 DACT2 EXON Missense_S687N exm2243499 6 168708401 [A/G] NM_214462 DACT2 EXON Missense_P679L exm595465 6 168708501 [A/C] NM_214462 DACT2 EXON Missense_G646C exm2243501 6 168708584 [T/C] NM_214462 DACT2 EXON Missense_R618Q exm595479 6 168708887 [A/G] NM_214462 DACT2 EXON Missense_L517P exm595486 6 168709209 [G/C] NM_214462 DACT2 EXON Missense_P410A exm595492 6 168709385 [T/C] NM_214462 DACT2 EXON Missense_E351G exm595500 6 168709728 [T/C] NM_214462 DACT2 EXON Missense_A237T exm595502 6 168710884 [A/G] NM_214462 DACT2 EXON Missense_P208S exm595503 6 168710902 [T/C] NM_214462 DACT2 EXON Missense_V202M exm595504 6 168710914 [A/G] NM_214462 DACT2 EXON Missense_P198S exm595505 6 168710920 [T/C] NM_214462 DACT2 EXON Missense_A196T exm2257665 6 168810725 [A/G] exm595526 6 168910643 [A/G] NM_001166412,NM_022138 SMOC2,SMOC2 EXON Missense_A45T,Missense_A45T exm595527 6 168910644 [T/C] NM_001166412,NM_022138 SMOC2,SMOC2 EXON Missense_A45V,Missense_A45V exm595529 6 168910650 [T/C] NM_001166412,NM_022138 SMOC2,SMOC2 EXON Missense_S47L,Missense_S47L exm595546 6 168928380 [A/G] NM_001166412,NM_022138 SMOC2,SMOC2 EXON Missense_V146M,Missense_V146M exm-rs13208776 6 168941624 [A/G] NM_001166412,NM_022138 SMOC2,SMOC2 Silent,Silent exm595559 6 168947786 [A/G] NM_001166412,NM_022138 SMOC2,SMOC2 EXON Silent,Missense_V178I exm595563 6 168949820 [T/C] NM_001166412,NM_022138 SMOC2,SMOC2 EXON Missense_R192C,Missense_R203C exm595564 6 168949826 [T/C] NM_001166412,NM_022138 SMOC2,SMOC2 EXON Missense_P194S,Missense_P205S exm595566 6 168949881 [T/C] NM_001166412,NM_022138 SMOC2,SMOC2 EXON Missense_S212L,Missense_S223L exm595568 6 168999523 [G/C] NM_001166412,NM_022138 SMOC2,SMOC2 EXON Missense_Q221H,Missense_Q232H exm595572 6 168999598 [A/C] NM_001166412,NM_022138 SMOC2,SMOC2 EXON Nonsense_Y246X,Nonsense_Y257X exm595586 6 169051390 [C/G] NM_001166412,NM_022138 SMOC2,SMOC2 EXON Missense_L313V,Missense_L324V exm2117031 6 169051407 [A/C] NM_001166412,NM_022138 SMOC2,SMOC2 EXON Missense_D318E,Missense_D329E exm595611 6 169053866 [A/G] NM_001166412,NM_022138 SMOC2,SMOC2 EXON Missense_V415M,Missense_V426M exm595614 6 169053888 [T/C] NM_001166412,NM_022138 SMOC2,SMOC2 EXON Missense_A422V,Missense_A433V exm595618 6 169064783 [A/G] NM_001166412,NM_022138 SMOC2,SMOC2 EXON Missense_N439D,Missense_N450D exm595620 6 169064789 [T/C] NM_001166412,NM_022138 SMOC2,SMOC2 EXON Nonsense_Q441X,Nonsense_Q452X exm-rs9455487 6 169248186 [A/G] exm2257666 6 169496144 [T/G] exm2266288 6 169600942 [A/G] exm595649 6 169620407 [A/C] NM_003247 THBS2 EXON Missense_V1133F exm595659 6 169621600 [A/G] NM_003247 THBS2 EXON Missense_P1099L exm595662 6 169622299 [A/G] NM_003247 THBS2 EXON Missense_P1089L exm595678 6 169622491 [A/G] NM_003247 THBS2 EXON Missense_A1025V exm595711 6 169626325 [T/C] NM_003247 THBS2 EXON Missense_G830S exm595719 6 169628313 [A/G] NM_003247 THBS2 EXON Missense_R775C exm595727 6 169629723 [T/C] NM_003247 THBS2 EXON Missense_G735R exm595730 6 169632091 [T/G] NM_003247 THBS2 EXON Missense_T712N exm595736 6 169632217 [A/T] NM_003247 THBS2 EXON Missense_H670L exm2117093 6 169634832 [T/C] NM_003247 THBS2 EXON Missense_V550M exm595760 6 169634930 [T/C] NM_003247 THBS2 EXON Missense_R517H exm595776 6 169637723 [A/G] NM_003247 THBS2 EXON Missense_R433C exm595787 6 169637889 [T/C] NM_003247 THBS2 EXON Synonymous_S377S exm595788 6 169637890 [A/G] NM_003247 THBS2 EXON Missense_S377L exm595792 6 169639700 [A/G] NM_003247 THBS2 EXON Missense_L375F exm595799 6 169639748 [T/A] NM_003247 THBS2 EXON Missense_T359S exm595808 6 169640636 [T/C] NM_003247 THBS2 EXON Missense_R315G exm595809 6 169640686 [A/G] NM_003247 THBS2 EXON Missense_S298L exm595813 6 169641865 [T/C] NM_003247 THBS2 EXON Missense_K295E exm595817 6 169641906 [A/G] NM_003247 THBS2 EXON Missense_S281L exm595823 6 169641949 [T/C] NM_003247 THBS2 EXON Missense_E267K exm595828 6 169641970 [T/C] NM_003247 THBS2 EXON Missense_E260K exm2117111 6 169641972 [A/G] NM_003247 THBS2 EXON Missense_S259L exm595832 6 169641991 [T/C] NM_003247 THBS2 EXON Missense_E253K exm2117113 6 169642042 [T/C] NM_003247 THBS2 EXON Missense_A236T exm595843 6 169646315 [T/C] NM_003247 THBS2 EXON Missense_K224R exm595845 6 169646361 [T/C] NM_003247 THBS2 EXON Missense_V209I exm595854 6 169648646 [T/C] NM_003247 THBS2 EXON Missense_E159K exm595859 6 169648723 [G/C] NM_003247 THBS2 EXON Missense_T133S exm595860 6 169648732 [A/G] NM_003247 THBS2 EXON Missense_I130T exm595861 6 169648759 [A/G] NM_003247 THBS2 EXON Missense_A121V exm595863 6 169648775 [T/C] NM_003247 THBS2 EXON Missense_V116I exm595865 6 169648842 [G/C] NM_003247 THBS2 EXON Missense_D93E exm2243507 6 169648945 [A/C] NM_003247 THBS2 EXON Missense_R59L exm595870 6 169648967 [T/C] NM_003247 THBS2 EXON Missense_V52M exm595871 6 169648970 [T/C] NM_003247 THBS2 EXON Missense_G51S exm595873 6 169649047 [A/G] NM_003247 THBS2 EXON Missense_T25M exm2262093 6 169656029 [T/G] exm-rs6605534 6 169722541 [A/G] exm-rs3734905 6 169958982 [A/G] NM_182552,NM_001202550 WDR27,WDR27 Silent,Silent exm595893 6 169982991 [A/G] NM_182552,NM_001202550 WDR27,WDR27 EXON Missense_R822W,Missense_R695W exm595894 6 169982996 [T/G] NM_182552,NM_001202550 WDR27,WDR27 EXON Missense_S820Y,Missense_S693Y exm595898 6 170002323 [T/C] NM_182552,NM_001202550 WDR27,WDR27 EXON Missense_D806N,Missense_D679N exm595905 6 170002347 [A/G] NM_182552,NM_001202550 WDR27,WDR27 EXON Nonsense_R798X,Nonsense_R671X exm595906 6 170002365 [T/C] NM_182552,NM_001202550 WDR27,WDR27 EXON Missense_A792T,Missense_A665T exm595910 6 170002413 [G/C] NM_182552,NM_001202550 WDR27,WDR27 EXON Missense_E776Q,Missense_E649Q exm595914 6 170033049 [T/G] NM_182552,NM_001202550 WDR27,WDR27 EXON Missense_Q739H,Missense_Q612H exm595921 6 170033086 [A/G] NM_182552,NM_001202550 WDR27,WDR27 EXON Missense_A727V,Missense_A600V exm595924 6 170033108 [T/C] NM_182552,NM_001202550 WDR27,WDR27 EXON Missense_G720S,Missense_G593S exm595927 6 170033143 [T/C] NM_182552,NM_001202550 WDR27,WDR27 EXON Missense_R708Q,Missense_R581Q exm595928 6 170033153 [T/C] NM_182552,NM_001202550 WDR27,WDR27 EXON Missense_A705T,Missense_A578T exm595933 6 170034574 [A/G] NM_182552,NM_001202550 WDR27,WDR27 EXON Missense_T684M,Missense_T557M exm595934 6 170036466 [A/C] NM_182552,NM_001202550 WDR27,WDR27 Silent,Silent exm595936 6 170036506 [A/C] NM_182552,NM_001202550 WDR27,WDR27 EXON Missense_L655R,Missense_L528R exm595950 6 170038696 [A/G] NM_182552,NM_001202550 WDR27,WDR27 EXON Missense_A603V,Missense_A476V exm2117152 6 170038749 [A/G] NM_182552,NM_001202550 WDR27,WDR27 EXON Synonymous_D585D,Synonymous_D458D exm595963 6 170047902 [A/T] NM_182552,NM_001202550 WDR27,WDR27 EXON Missense_T542S,Missense_T415S exm595967 6 170047953 [T/C] NM_182552,NM_001202550 WDR27,WDR27 EXON Missense_V525M,Missense_V398M exm595971 6 170049295 [A/G] NM_182552,NM_001202550 WDR27,WDR27 EXON Missense_R520W,Missense_R393W exm595975 6 170049350 [G/C] NM_182552,NM_001202550 WDR27,WDR27 EXON Missense_K501N,Missense_K374N exm595976 6 170049354 [A/G] NM_182552,NM_001202550 WDR27,WDR27 EXON Missense_P500L,Missense_P373L exm2117160 6 170052042 [A/T] NM_182552,NM_001202550 WDR27,WDR27 EXON Missense_Y489N,Missense_Y362N exm595981 6 170052078 [A/G] NM_182552,NM_001202550 WDR27,WDR27 EXON Missense_R477C,Missense_R350C exm595985 6 170058374 [T/C] NM_182552,NM_001202550 WDR27,WDR27 EXON Missense_R467H,Missense_R340H exm595992 6 170059194 [A/G] NM_182552,NM_001202550 WDR27,WDR27 EXON Missense_S436L,Missense_S309L exm595994 6 170059234 [G/C] NM_182552,NM_001202550 WDR27,WDR27 EXON Missense_V423L,Missense_V296L exm595996 6 170059245 [A/G] NM_182552,NM_001202550 WDR27,WDR27 EXON Missense_P419L,Missense_P292L exm595997 6 170059250 [G/C] NM_182552,NM_001202550 WDR27,WDR27 EXON Missense_I417M,Missense_I290M exm596000 6 170059279 [A/G] NM_182552,NM_001202550 WDR27,WDR27 EXON Missense_F408L,Missense_F281L exm596004 6 170059557 [A/G] NM_182552,NM_001202550 WDR27,WDR27 EXON Missense_A396V,Missense_A269V exm596005 6 170059563 [T/C] NM_182552,NM_001202550 WDR27,WDR27 EXON Missense_R394H,Missense_R267H exm596015 6 170060821 [C/G] NM_182552,NM_001202550 WDR27,WDR27 EXON Nonsense_S356X,Nonsense_S229X exm596022 6 170060843 [A/G] NM_182552,NM_001202550 WDR27,WDR27 EXON Nonsense_R349X,Nonsense_R222X exm596028 6 170062481 [T/C] NM_182552,NM_001202550 WDR27,WDR27 EXON Missense_G315E,Missense_G188E exm2274212 6 170064322 [T/C] NM_182552,NM_001202550 WDR27,WDR27 EXON Missense_R282G,Missense_R155G exm596032 6 170064342 [T/C] NM_182552,NM_001202550 WDR27,WDR27 EXON Missense_R275H,Missense_R148H exm596034 6 170064346 [A/G] NM_182552,NM_001202550 WDR27,WDR27 EXON Missense_R274C,Missense_R147C exm596040 6 170068086 [T/C] NM_182552,NM_001202550 WDR27,WDR27 EXON Missense_G218S,Silent exm596044 6 170068107 [T/G] NM_182552,NM_001202550 WDR27,WDR27 EXON Missense_I211L,Silent exm596046 6 170068122 [A/G] NM_182552,NM_001202550 WDR27,WDR27 EXON Nonsense_R206X,Silent exm596051 6 170068151 [A/G] NM_182552,NM_001202550 WDR27,WDR27 EXON Missense_P196L,Silent exm596059 6 170070703 [C/G] NM_182552,NM_001202550 WDR27,WDR27 EXON Missense_V140L,Silent exm596063 6 170070723 [A/G] NM_182552,NM_001202550 WDR27,WDR27 EXON Missense_L133P,Silent exm596068 6 170070759 [T/G] NM_182552,NM_001202550 WDR27,WDR27 EXON Nonsense_S121X,Silent exm2274213 6 170089044 [A/T] NM_182552,NM_001202550 WDR27,WDR27 EXON Missense_I20L,Missense_I20L exm596083 6 170089092 [G/C] NM_182552,NM_001202550 WDR27,WDR27 EXON Missense_P4A,Missense_P4A exm596094 6 170102748 [A/G] NM_001029863 C6orf120 EXON Missense_I65V exm596102 6 170102887 [A/G] NM_001029863 C6orf120 EXON Missense_R111Q exm596105 6 170102916 [T/C] NM_001029863 C6orf120 EXON Missense_H121Y exm596109 6 170102970 [A/G] NM_001029863 C6orf120 EXON Missense_V139I exm596110 6 170102973 [A/G] NM_001029863 C6orf120 EXON Missense_E140K exm596111 6 170102991 [G/C] NM_001029863 C6orf120 EXON Missense_E146Q exm596125 6 170104181 [T/C] NM_001029863,NM_018288,NM_133325 C6orf120,PHF10,PHF10 EXON Silent,Missense_R472H,Missense_R470H exm596128 6 170105270 [T/C] NM_001029863,NM_018288,NM_133325 C6orf120,PHF10,PHF10 EXON Silent,Missense_G457D,Missense_G455D exm596130 6 170105313 [A/G] NM_001029863,NM_018288,NM_133325 C6orf120,PHF10,PHF10 EXON Silent,Missense_H443Y,Missense_H441Y exm596139 6 170110372 [T/G] NM_018288,NM_133325 PHF10,PHF10 EXON Missense_P358H,Missense_P356H exm596144 6 170112516 [T/C] NM_018288,NM_133325 PHF10,PHF10 EXON Missense_R308Q,Missense_R306Q exm596157 6 170115902 [A/C] NM_018288,NM_133325 PHF10,PHF10 EXON Missense_Y199D,Missense_Y197D exm2243514 6 170140288 [T/C] NM_174910 TCTE3 EXON Missense_Y197C exm596182 6 170143300 [A/G] NM_174910 TCTE3 EXON Missense_V121A exm596188 6 170144228 [A/C] NM_174910 TCTE3 EXON Missense_R88I exm596189 6 170144241 [A/C] NM_174910 TCTE3 EXON Missense_A84S exm596191 6 170144292 [T/C] NM_174910 TCTE3 EXON Missense_I67V exm596193 6 170144310 [T/G] NM_174910 TCTE3 EXON Missense_P61T exm596196 6 170144343 [T/C] NM_174910 TCTE3 EXON Missense_R50G exm596203 6 170151488 [A/C] NM_174910 TCTE3 EXON Missense_A23S exm596205 6 170151721 [A/G] NM_018341 C6orf70 EXON Silent exm596207 6 170151758 [A/T] NM_018341 C6orf70 EXON Missense_E2V exm596224 6 170155444 [T/C] NM_018341 C6orf70 EXON Missense_H81Y exm596225 6 170155460 [A/C] NM_018341 C6orf70 EXON Missense_T86N exm596226 6 170155468 [A/C] NM_018341 C6orf70 EXON Missense_Q89K exm596227 6 170155477 [A/G] NM_018341 C6orf70 EXON Missense_I92V exm2117247 6 170155481 [A/G] NM_018341 C6orf70 EXON Missense_R93Q exm596242 6 170159095 [T/C] NM_018341 C6orf70 EXON Missense_P180L exm596244 6 170159119 [T/C] NM_018341 C6orf70 EXON Missense_V188A exm596251 6 170159989 [A/T] NM_018341 C6orf70 EXON Missense_Y221N exm2117259 6 170160783 [A/G] NM_018341 C6orf70 EXON Missense_K263R exm596272 6 170162627 [A/G] NM_018341 C6orf70 EXON Synonymous_E320E exm596279 6 170169688 [A/G] NM_018341 C6orf70 EXON Missense_H371R exm596281 6 170169738 [A/G] NM_018341 C6orf70 EXON Missense_N388D exm596282 6 170169776 [T/A] NM_018341 C6orf70 EXON Missense_R400S exm596288 6 170173427 [A/G] NM_018341 C6orf70 EXON Missense_V416I exm596300 6 170176087 [A/G] NM_018341 C6orf70 EXON Missense_M482I exm596302 6 170176121 [C/G] NM_018341 C6orf70 EXON Missense_R494G exm596303 6 170176146 [A/G] NM_018341 C6orf70 EXON Missense_R502H exm596304 6 170176154 [A/G] NM_018341 C6orf70 EXON Missense_T505A exm596310 6 170176556 [T/C] NM_018341 C6orf70 EXON Missense_P509L exm596315 6 170176619 [T/C] NM_018341 C6orf70 EXON Missense_L530P exm596317 6 170176648 [A/G] NM_018341 C6orf70 EXON Missense_S540G exm596320 6 170176730 [A/G] NM_018341 C6orf70 EXON Missense_R567Q exm596324 6 170176757 [A/G] NM_018341 C6orf70 EXON Missense_R576H exm596344 6 170181548 [T/G] NM_018341 C6orf70 EXON Missense_S659I exm2266289 6 170347127 [A/G] exm2262094 6 170539872 [A/G] exm2257668 6 170551427 [A/G] exm2257669 6 170592088 [A/G] NM_005618 DLL1 EXON Synonymous_V718V exm596383 6 170592161 [A/G] NM_005618 DLL1 EXON Missense_S694L exm596389 6 170592386 [A/G] NM_005618 DLL1 EXON Missense_R661C exm596395 6 170592467 [T/C] NM_005618 DLL1 EXON Missense_A634T exm596400 6 170592511 [A/G] NM_005618 DLL1 EXON Missense_A619V exm596403 6 170592538 [A/G] NM_005618 DLL1 EXON Missense_T610M exm596411 6 170592620 [A/G] NM_005618 DLL1 EXON Missense_C583R exm2243516 6 170592658 [T/C] NM_005618 DLL1 EXON Missense_R570Q exm596421 6 170592803 [T/C] NM_005618 DLL1 EXON Missense_E522K exm596426 6 170592851 [T/C] NM_005618 DLL1 EXON Missense_E506K exm596428 6 170592862 [T/C] NM_005618 DLL1 EXON Missense_R502H exm596440 6 170592946 [A/G] NM_005618 DLL1 EXON Missense_T474M exm596442 6 170592992 [A/G] NM_005618 DLL1 EXON Missense_R459W exm596444 6 170593015 [A/G] NM_005618 DLL1 EXON Missense_P451L exm596447 6 170593025 [T/C] NM_005618 DLL1 EXON Missense_A448T exm596449 6 170593037 [T/C] NM_005618 DLL1 EXON Missense_V444M exm596458 6 170594073 [T/C] NM_005618 DLL1 EXON Missense_V395M exm596467 6 170594383 [T/C] NM_005618 DLL1 EXON Missense_E331K exm596488 6 170597327 [A/G] NM_005618 DLL1 EXON Missense_P224S exm596490 6 170597384 [T/C] NM_005618 DLL1 EXON Missense_G205R exm596499 6 170597823 [T/C] NM_005618 DLL1 EXON Missense_A136T exm2243519 6 170627191 [T/C] NM_032448 FAM120B EXON Missense_M238T exm596548 6 170627437 [A/G] NM_032448 FAM120B EXON Missense_G320D exm596550 6 170627470 [T/C] NM_032448 FAM120B EXON Missense_T331M exm596552 6 170627481 [A/G] NM_032448 FAM120B EXON Missense_A335T exm596555 6 170627542 [T/C] NM_032448 FAM120B EXON Missense_M355T exm2243520 6 170627564 [T/G] NM_032448 FAM120B EXON Missense_R362S exm596558 6 170627565 [T/C] NM_032448 FAM120B EXON Nonsense_R363X exm596560 6 170627586 [T/G] NM_032448 FAM120B EXON Missense_D370Y exm2243523 6 170627635 [T/G] NM_032448 FAM120B EXON Missense_R386M exm2243524 6 170627636 [T/G] NM_032448 FAM120B EXON Missense_R386S exm596589 6 170627940 [T/C] NM_032448 FAM120B EXON Missense_R488W exm596593 6 170628009 [T/G] NM_032448 FAM120B EXON Missense_C511G exm596601 6 170632167 [T/G] NM_032448 FAM120B EXON Missense_V579F exm596607 6 170639554 [G/C] NM_032448 FAM120B EXON Missense_L645V exm596611 6 170657245 [T/C] NM_032448 FAM120B EXON Missense_T675M exm596636 6 170700170 [T/C] NM_032448 FAM120B EXON Missense_R854C exm596638 6 170700185 [A/G] NM_032448 FAM120B EXON Missense_A859T exm596654 6 170844432 [T/C] NM_002793 PSMB1 EXON Missense_R201Q exm596671 6 170858167 [T/C] NM_002793 PSMB1 EXON Missense_I50V exm596680 6 170862300 [G/C] NM_002793 PSMB1 EXON Missense_P11A exm596721 6 170871097 [A/G] NM_003194,NM_001172085 TBP,TBP EXON Synonymous_Q91Q,Synonymous_Q71Q exm596722 6 170871100 [C/G] NM_003194,NM_001172085 TBP,TBP EXON Missense_Q92H,Missense_Q72H exm596725 6 170871109 [T/G] NM_003194,NM_001172085 TBP,TBP EXON Missense_Q95H,Missense_Q75H exm596727 6 170871140 [A/G] NM_003194,NM_001172085 TBP,TBP EXON Missense_T106A,Missense_T86A exm2243536 6 170871168 [T/C] NM_003194,NM_001172085 TBP,TBP EXON Missense_S115L,Missense_S95L exm596729 6 170871176 [A/G] NM_003194,NM_001172085 TBP,TBP EXON Missense_A118T,Missense_A98T exm596733 6 170871234 [T/C] NM_003194,NM_001172085 TBP,TBP EXON Missense_P137L,Missense_P117L exm596763 6 170887997 [T/C] NM_002598,NM_001199462 PDCD2,PDCD2 EXON Missense_E275G,Missense_E242G exm596766 6 170889157 [T/G] NM_002598,NM_001199462 PDCD2,PDCD2 EXON Missense_K232T,Missense_K199T exm596769 6 170889175 [T/C] NM_002598,NM_001199462 PDCD2,PDCD2 EXON Missense_E226G,Missense_E193G exm596772 6 170892121 [A/G] NM_002598,NM_001199462,NM_001199463,NM_001199461,NM_001199464,NM_144781 PDCD2,PDCD2,PDCD2,PDCD2,PDCD2,PDCD2 EXON Silent,Silent,Missense_H195Y,Silent,Silent,Missense_H228Y exm2266360 6 170919470 [A/G] exm2270567 7 171613 [T/C] exm596808 7 193245 [T/G] NM_020223 FAM20C EXON Missense_V16L exm596826 7 195594 [A/G] NM_020223 FAM20C EXON Missense_G216R exm596831 7 195679 [T/C] NM_020223 FAM20C EXON Missense_P244L exm596832 7 195681 [A/G] NM_020223 FAM20C EXON Missense_A245T exm596859 7 295970 [A/T] NM_020223 FAM20C EXON Missense_S410T exm596873 7 299843 [A/G] NM_020223 FAM20C EXON Missense_R551H exm2258303 7 299850 [T/G] NM_020223 FAM20C EXON Synonymous_V553V exm596875 7 299863 [T/C] NM_020223 FAM20C EXON Missense_R558W exm596877 7 299872 [A/G] NM_020223 FAM20C EXON Missense_V561M exm596878 7 299881 [A/G] NM_020223 FAM20C EXON Missense_N564D exm596926 7 557066 [T/C] NM_033023,NM_002607 PDGFA,PDGFA EXON Missense_R42Q,Missense_R42Q exm596947 7 591027 [A/G] NM_001164760,NM_002735,NM_001164758,NM_001164759,NM_001164762,NM_001164761 PRKAR1B,PRKAR1B,PRKAR1B,PRKAR1B,PRKAR1B,PRKAR1B EXON Synonymous_F324F,Synonymous_F324F,Synonymous_F324F,Synonymous_F324F,Synonymous_F324F,Synonymous_F324F exm596948 7 591062 [T/C] NM_001164760,NM_002735,NM_001164758,NM_001164759,NM_001164762,NM_001164761 PRKAR1B,PRKAR1B,PRKAR1B,PRKAR1B,PRKAR1B,PRKAR1B EXON Missense_V313M,Missense_V313M,Missense_V313M,Missense_V313M,Missense_V313M,Missense_V313M exm596989 7 716867 [T/C] NM_001164760,NM_002735,NM_001164758,NM_001164759,NM_001164762,NM_001164761 PRKAR1B,PRKAR1B,PRKAR1B,PRKAR1B,PRKAR1B,PRKAR1B EXON Missense_S147G,Missense_S147G,Missense_S147G,Missense_S147G,Missense_S147G,Missense_S147G exm597007 7 720338 [T/C] NM_001164760,NM_002735,NM_001164758,NM_001164759,NM_001164762,NM_001164761 PRKAR1B,PRKAR1B,PRKAR1B,PRKAR1B,PRKAR1B,PRKAR1B EXON Missense_R68Q,Missense_R68Q,Missense_R68Q,Missense_R68Q,Missense_R68Q,Missense_R68Q exm2153458 7 720341 [A/G] NM_001164760,NM_002735,NM_001164758,NM_001164759,NM_001164762,NM_001164761 PRKAR1B,PRKAR1B,PRKAR1B,PRKAR1B,PRKAR1B,PRKAR1B EXON Missense_A67V,Missense_A67V,Missense_A67V,Missense_A67V,Missense_A67V,Missense_A67V exm597012 7 751025 [T/C] NM_001164760,NM_002735,NM_001164758,NM_001164759,NM_001164762,NM_001164761 PRKAR1B,PRKAR1B,PRKAR1B,PRKAR1B,PRKAR1B,PRKAR1B EXON Missense_I40V,Missense_I40V,Missense_I40V,Missense_I40V,Missense_I40V,Missense_I40V exm597029 7 769344 [G/C] NR_075098,NM_017802 HEATR2,HEATR2 EXON Silent,Missense_Q214E exm597033 7 769401 [A/G] NR_075098,NM_017802 HEATR2,HEATR2 EXON Silent,Missense_A233T exm597038 7 769422 [A/G] NR_075098,NM_017802 HEATR2,HEATR2 EXON Silent,Missense_G240R exm2155317 7 780462 [T/C] NR_075098,NM_017802 HEATR2,HEATR2 EXON Silent,Missense_R263W exm597046 7 780463 [A/G] NR_075098,NM_017802 HEATR2,HEATR2 EXON Silent,Missense_R263Q exm2258468 7 780497 [G/C] NR_075098,NM_017802 HEATR2,HEATR2 EXON Silent,Synonymous_L274L exm597058 7 780999 [A/C] NR_075098,NM_017802 HEATR2,HEATR2 EXON Silent,Missense_S307R exm597061 7 781026 [A/G] NR_075098,NM_017802 HEATR2,HEATR2 EXON Silent,Nonsense_W316X exm597070 7 794264 [A/G] NR_075098,NM_017802 HEATR2,HEATR2 EXON Silent,Missense_R355G exm597077 7 794409 [A/G] NR_075098,NM_017802 HEATR2,HEATR2 EXON Silent,Missense_R403Q exm597081 7 794450 [A/G] NR_075098,NM_017802 HEATR2,HEATR2 EXON Silent,Missense_V417I exm597083 7 796419 [T/C] NR_075098,NM_017802 HEATR2,HEATR2 EXON Silent,Missense_C420R exm2155356 7 796431 [A/G] NR_075098,NM_017802 HEATR2,HEATR2 EXON Silent,Missense_A424T exm597088 7 796480 [T/G] NR_075098,NM_017802 HEATR2,HEATR2 EXON Silent,Missense_I440S exm597089 7 796486 [T/C] NR_075098,NM_017802 HEATR2,HEATR2 EXON Silent,Missense_S442L exm597091 7 796495 [A/G] NR_075098,NM_017802 HEATR2,HEATR2 EXON Silent,Missense_K445R exm2155360 7 796555 [A/G] NR_075098,NM_017802 HEATR2,HEATR2 EXON Silent,Missense_R465Q exm597095 7 796593 [A/G] NR_075098,NM_017802 HEATR2,HEATR2 EXON Silent,Missense_E478K exm597099 7 801418 [T/G] NR_075098,NM_017802 HEATR2,HEATR2 EXON Silent,Missense_C500F exm597104 7 801507 [A/G] NR_075098,NM_017802 HEATR2,HEATR2 EXON Silent,Missense_A530T exm597111 7 803506 [T/C] NR_075098,NM_017802 HEATR2,HEATR2 EXON Silent,Missense_R560C exm597112 7 803515 [A/G] NR_075098,NM_017802 HEATR2,HEATR2 EXON Silent,Missense_I563V exm597119 7 803546 [T/C] NR_075098,NM_017802 HEATR2,HEATR2 EXON Silent,Missense_S573L exm597132 7 810120 [A/G] NR_075098,NM_017802 HEATR2,HEATR2 EXON Silent,Missense_G599E exm597138 7 810219 [T/C] NR_075098,NM_017802 HEATR2,HEATR2 EXON Silent,Missense_V632A exm597148 7 813759 [T/C] NR_075098,NM_017802 HEATR2,HEATR2 EXON Silent,Missense_T669I exm597159 7 814760 [A/G] NR_075098,NM_017802 HEATR2,HEATR2 EXON Silent,Missense_G734S exm597163 7 814788 [A/G] NR_075098,NM_017802 HEATR2,HEATR2 EXON Silent,Missense_R743K exm597168 7 819695 [A/G] NR_075098,NM_017802 HEATR2,HEATR2 EXON Silent,Missense_Y782C exm597184 7 825273 [A/G] NR_075098,NM_017802 HEATR2,HEATR2 EXON Silent,Missense_V851M exm597187 7 825286 [A/G] NR_075098,NM_017802 HEATR2,HEATR2 EXON Silent,Missense_Q855R exm597193 7 872190 [A/G] NM_001171946,NM_001171944,NM_001171945,NM_025154,NM_001130965 SUN1,SUN1,SUN1,SUN1,SUN1 EXON Missense_S10N,Missense_S10N,Missense_S31N,Silent,Missense_S10N exm597201 7 878536 [T/C] NM_001171946,NM_001171944,NM_001171945,NM_025154,NM_001130965 SUN1,SUN1,SUN1,SUN1,SUN1 EXON Missense_T60M,Missense_T60M,Missense_T81M,Missense_T10M,Missense_T60M exm2156442 7 878560 [A/G] NM_001171946,NM_001171944,NM_001171945,NM_025154,NM_001130965 SUN1,SUN1,SUN1,SUN1,SUN1 EXON Missense_G68D,Missense_G68D,Missense_G89D,Missense_G18D,Missense_G68D exm597205 7 878583 [T/G] NM_001171946,NM_001171944,NM_001171945,NM_025154,NM_001130965 SUN1,SUN1,SUN1,SUN1,SUN1 EXON Missense_G76C,Missense_G76C,Missense_G97C,Missense_G26C,Missense_G76C exm2156444 7 878584 [G/C] NM_001171946,NM_001171944,NM_001171945,NM_025154,NM_001130965 SUN1,SUN1,SUN1,SUN1,SUN1 EXON Missense_G76A,Missense_G76A,Missense_G97A,Missense_G26A,Missense_G76A exm597211 7 881594 [A/C] NM_001171946,NM_001171944,NM_001171945,NM_025154,NM_001130965 SUN1,SUN1,SUN1,SUN1,SUN1 EXON Missense_Q93P,Missense_Q93P,Missense_Q114P,Missense_Q43P,Missense_Q93P exm597213 7 881651 [T/C] NM_001171946,NM_001171944,NM_001171945,NM_025154,NM_001130965 SUN1,SUN1,SUN1,SUN1,SUN1 EXON Missense_T112M,Missense_T112M,Missense_T133M,Missense_T62M,Missense_T112M exm597215 7 881668 [T/C] NM_001171946,NM_001171944,NM_001171945,NM_025154,NM_001130965 SUN1,SUN1,SUN1,SUN1,SUN1 EXON Missense_H118Y,Missense_H118Y,Missense_H139Y,Missense_H68Y,Missense_H118Y exm597217 7 881674 [A/G] NM_001171946,NM_001171944,NM_001171945,NM_025154,NM_001130965 SUN1,SUN1,SUN1,SUN1,SUN1 EXON Missense_G120S,Missense_G120S,Missense_G141S,Missense_G70S,Missense_G120S exm597234 7 882995 [A/G] NM_001171946,NM_001171944,NM_001171945,NM_025154,NM_001130965 SUN1,SUN1,SUN1,SUN1,SUN1 EXON Missense_I166V,Silent,Missense_I187V,Missense_I116V,Missense_I166V exm597240 7 883034 [A/G] NM_001171946,NM_001171944,NM_001171945,NM_025154,NM_001130965 SUN1,SUN1,SUN1,SUN1,SUN1 EXON Missense_A179T,Silent,Missense_A200T,Missense_A129T,Missense_A179T exm597245 7 883088 [A/G] NM_001171946,NM_001171944,NM_001171945,NM_025154,NM_001130965 SUN1,SUN1,SUN1,SUN1,SUN1 EXON Missense_V197M,Silent,Missense_V218M,Missense_V147M,Missense_V197M exm597248 7 883107 [T/C] NM_001171946,NM_001171944,NM_001171945,NM_025154,NM_001130965 SUN1,SUN1,SUN1,SUN1,SUN1 EXON Missense_A203V,Silent,Missense_A224V,Missense_A153V,Missense_A203V exm597283 7 891121 [T/G] NM_001171944,NM_025154,NM_001130965 SUN1,SUN1,SUN1 Silent,Silent,Silent exm597297 7 892498 [T/G] NM_001171944,NM_025154,NM_001130965 SUN1,SUN1,SUN1 EXON Missense_L218W,Missense_L238W,Missense_L321W exm597304 7 893125 [A/G] NM_001171944,NM_025154,NM_001130965 SUN1,SUN1,SUN1 EXON Missense_H275R,Missense_H295R,Missense_H378R exm597308 7 893208 [A/G] NM_001171944,NM_025154,NM_001130965 SUN1,SUN1,SUN1 EXON Missense_G303R,Missense_G323R,Missense_G406R exm597316 7 896034 [A/G] NM_001171944,NM_025154,NM_001130965 SUN1,SUN1,SUN1 EXON Missense_I361V,Missense_I381V,Missense_I464V exm597320 7 897496 [A/G] NM_001171944,NM_025154,NM_001130965 SUN1,SUN1,SUN1 EXON Missense_E373K,Missense_E393K,Missense_E476K exm597335 7 899820 [T/G] NM_001171944,NM_025154,NM_001130965 SUN1,SUN1,SUN1 EXON Missense_G424V,Missense_G444V,Missense_G527V exm597339 7 899886 [T/C] NM_001171944,NM_025154,NM_001130965 SUN1,SUN1,SUN1 EXON Missense_T446M,Missense_T466M,Missense_T549M exm597345 7 899972 [T/G] NM_001171944,NM_025154,NM_001130965 SUN1,SUN1,SUN1 EXON Missense_V475L,Missense_V495L,Missense_V578L exm597347 7 899987 [A/G] NM_001171944,NM_025154,NM_001130965 SUN1,SUN1,SUN1 EXON Missense_S480G,Missense_S500G,Missense_S583G exm597349 7 900000 [T/C] NM_001171944,NM_025154,NM_001130965 SUN1,SUN1,SUN1 EXON Missense_A484V,Missense_A504V,Missense_A587V exm597356 7 901098 [A/G] NM_001171944,NM_025154,NM_001130965 SUN1,SUN1,SUN1 EXON Missense_G518S,Missense_G538S,Missense_G621S exm597369 7 909119 [A/G] NM_001171944,NM_025154,NM_001130965 SUN1,SUN1,SUN1 EXON Missense_N602S,Missense_N622S,Missense_N705S exm597371 7 909148 [A/G] NM_001171944,NM_025154,NM_001130965 SUN1,SUN1,SUN1 EXON Missense_V612I,Missense_V632I,Missense_V715I exm2156698 7 912156 [T/C] NM_001171944,NM_025154,NM_001130965 SUN1,SUN1,SUN1 EXON Missense_T630M,Missense_T650M,Missense_T733M exm597380 7 912861 [A/G] NM_001171944,NM_025154,NM_001130965 SUN1,SUN1,SUN1 EXON Missense_D648N,Missense_D668N,Missense_D751N exm597381 7 912892 [A/G] NM_001171944,NM_025154,NM_001130965 SUN1,SUN1,SUN1 EXON Missense_R658Q,Missense_R678Q,Missense_R761Q exm597400 7 925694 [T/G] NM_015949 GET4 EXON Missense_Y53D exm597431 7 930664 [A/G] NM_015949 GET4 EXON Missense_R189H exm597456 7 933420 [G/C] NM_015949 GET4 EXON Missense_P264A exm597458 7 933430 [A/G] NM_015949 GET4 EXON Missense_R267Q exm597518 7 938848 [T/G] NM_006869 ADAP1 EXON Nonsense_Y306X exm597535 7 940178 [T/C] NM_006869 ADAP1 EXON Missense_D242N exm597537 7 940181 [T/C] NM_006869 ADAP1 EXON Missense_G241S exm597578 7 944803 [T/C] NM_006869 ADAP1 EXON Missense_R132H exm597593 7 959631 [A/G] NM_006869 ADAP1 EXON Missense_P121L exm597596 7 959665 [A/G] NM_006869 ADAP1 EXON Missense_R110W exm597614 7 975046 [C/G] NM_006869 ADAP1 EXON Missense_V60L exm597627 7 1012865 [C/G] NM_001031617 COX19 EXON Missense_A49G exm597635 7 1015110 [G/C] NM_001031617 COX19 EXON Missense_F12L exm597636 7 1015129 [T/C] NM_001031617 COX19 EXON Missense_N6S exm597648 7 1022990 [A/G] NM_017781 CYP2W1 EXON Missense_R48H exm597665 7 1024180 [A/G] NM_017781 CYP2W1 EXON Missense_A103T exm597676 7 1024855 [A/G] NM_017781 CYP2W1 EXON Missense_A181T exm597677 7 1024861 [G/C] NM_017781 CYP2W1 EXON Missense_L183V exm597680 7 1024871 [A/G] NM_017781 CYP2W1 EXON Missense_R186H exm597693 7 1026311 [A/G] NM_017781 CYP2W1 EXON Missense_V233I exm2258035 7 1026364 [A/G] NM_017781 CYP2W1 EXON Synonymous_A250A exm597721 7 1027121 [A/G] NM_017781 CYP2W1 EXON Missense_R366H exm597737 7 1028279 [A/G] NM_017781 CYP2W1 EXON Missense_V432I exm597738 7 1028294 [T/C] NM_017781 CYP2W1 EXON Missense_R437C exm597740 7 1028337 [T/G] NM_017781 CYP2W1 EXON Missense_L451R exm-rs10256972 7 1039003 [A/C] NM_001134396,NM_001134395,NM_032350 C7orf50,C7orf50,C7orf50 Silent,Silent,Silent exm597773 7 1040173 [T/C] NM_001134396,NM_001134395,NM_032350 C7orf50,C7orf50,C7orf50 EXON Missense_H113R,Missense_H113R,Missense_H113R exm597776 7 1049749 [A/C] NM_001134396,NM_001134395,NM_032350 C7orf50,C7orf50,C7orf50 EXON Missense_A54S,Missense_A54S,Missense_A54S exm-rs1997243 7 1083777 [A/G] NM_001134396,NM_001134395,NM_032350 C7orf50,C7orf50,C7orf50 Silent,Silent,Silent exm597791 7 1097183 [A/G] NM_001134396,NM_001134395,NM_032350,NM_138445 C7orf50,C7orf50,C7orf50,GPR146 EXON Silent,Silent,Silent,Missense_G11E exm597797 7 1097255 [T/C] NM_001134396,NM_001134395,NM_032350,NM_138445 C7orf50,C7orf50,C7orf50,GPR146 EXON Silent,Silent,Silent,Missense_V35A exm597803 7 1097336 [T/C] NM_001134396,NM_001134395,NM_032350,NM_138445 C7orf50,C7orf50,C7orf50,GPR146 EXON Silent,Silent,Silent,Missense_P62L exm597822 7 1097555 [A/G] NM_001134396,NM_001134395,NM_032350,NM_138445 C7orf50,C7orf50,C7orf50,GPR146 EXON Silent,Silent,Silent,Missense_R135Q exm597827 7 1097585 [A/G] NM_001134396,NM_001134395,NM_032350,NM_138445 C7orf50,C7orf50,C7orf50,GPR146 EXON Silent,Silent,Silent,Missense_R145Q exm597835 7 1097614 [T/G] NM_001134396,NM_001134395,NM_032350,NM_138445 C7orf50,C7orf50,C7orf50,GPR146 EXON Silent,Silent,Silent,Missense_A155S exm2258059 7 1097733 [T/C] NM_001134396,NM_001134395,NM_032350,NM_138445 C7orf50,C7orf50,C7orf50,GPR146 EXON Silent,Silent,Silent,Synonymous_I194I exm597850 7 1097733 [T/C] NM_001134396,NM_001134395,NM_032350,NM_138445 C7orf50,C7orf50,C7orf50,GPR146 EXON Silent,Silent,Silent,Synonymous_I194I exm597855 7 1097814 [A/C] NM_001134396,NM_001134395,NM_032350,NM_138445 C7orf50,C7orf50,C7orf50,GPR146 EXON Silent,Silent,Silent,Missense_D221E exm597860 7 1097866 [A/G] NM_001134396,NM_001134395,NM_032350,NM_138445 C7orf50,C7orf50,C7orf50,GPR146 EXON Silent,Silent,Silent,Missense_V239M exm597868 7 1097933 [T/C] NM_001134396,NM_001134395,NM_032350,NM_138445 C7orf50,C7orf50,C7orf50,GPR146 EXON Silent,Silent,Silent,Missense_S261L exm597870 7 1097947 [A/G] NM_001134396,NM_001134395,NM_032350,NM_138445 C7orf50,C7orf50,C7orf50,GPR146 EXON Silent,Silent,Silent,Missense_V266M exm597880 7 1098100 [A/G] NM_001134396,NM_001134395,NM_032350,NM_138445 C7orf50,C7orf50,C7orf50,GPR146 EXON Silent,Silent,Silent,Missense_G317R exm597889 7 1131392 [A/G] NM_001134396,NM_001134395,NM_032350,NM_001505,NM_001039966,NM_001098201 C7orf50,C7orf50,C7orf50,GPER,GPER,GPER EXON Silent,Silent,Silent,Missense_V10M,Missense_V10M,Missense_V10M exm597891 7 1131411 [T/C] NM_001134396,NM_001134395,NM_032350,NM_001505,NM_001039966,NM_001098201 C7orf50,C7orf50,C7orf50,GPER,GPER,GPER EXON Silent,Silent,Silent,Missense_P16L,Missense_P16L,Missense_P16L exm2136856 7 1131452 [A/G] NM_001134396,NM_001134395,NM_032350,NM_001505,NM_001039966,NM_001098201 C7orf50,C7orf50,C7orf50,GPER,GPER,GPER EXON Silent,Silent,Silent,Missense_E30K,Missense_E30K,Missense_E30K exm597913 7 1131887 [T/C] NM_001134396,NM_001134395,NM_032350,NM_001505,NM_001039966,NM_001098201 C7orf50,C7orf50,C7orf50,GPER,GPER,GPER EXON Silent,Silent,Silent,Missense_R175W,Missense_R175W,Missense_R175W exm597920 7 1132016 [G/C] NM_001134396,NM_001134395,NM_032350,NM_001505,NM_001039966,NM_001098201 C7orf50,C7orf50,C7orf50,GPER,GPER,GPER EXON Silent,Silent,Silent,Missense_E218Q,Missense_E218Q,Missense_E218Q exm2136859 7 1132059 [T/C] NM_001134396,NM_001134395,NM_032350,NM_001505,NM_001039966,NM_001098201 C7orf50,C7orf50,C7orf50,GPER,GPER,GPER EXON Silent,Silent,Silent,Missense_L232P,Missense_L232P,Missense_L232P exm597928 7 1132095 [T/C] NM_001134396,NM_001134395,NM_032350,NM_001505,NM_001039966,NM_001098201 C7orf50,C7orf50,C7orf50,GPER,GPER,GPER EXON Silent,Silent,Silent,Missense_A244V,Missense_A244V,Missense_A244V exm2136863 7 1132413 [A/G] NM_001134396,NM_001134395,NM_032350,NM_001505,NM_001039966,NM_001098201 C7orf50,C7orf50,C7orf50,GPER,GPER,GPER EXON Silent,Silent,Silent,Missense_R350H,Missense_R350H,Missense_R350H exm597955 7 1132483 [T/G] NM_001134396,NM_001134395,NM_032350,NM_001505,NM_001039966,NM_001098201 C7orf50,C7orf50,C7orf50,GPER,GPER,GPER EXON Silent,Silent,Silent,Missense_S373R,Missense_S373R,Missense_S373R exm2258080 7 1166911 [A/G] NM_001134396,NM_001134395,NM_032350 C7orf50,C7orf50,C7orf50 EXON Synonymous_G37G,Synonymous_G37G,Synonymous_G37G exm597973 7 1192725 [A/G] NM_182491 ZFAND2A EXON Missense_P140S exm597978 7 1192797 [A/C] NM_182491 ZFAND2A EXON Missense_A116S exm597992 7 1197308 [A/G] NM_182491 ZFAND2A EXON Missense_P45L exm2137419 7 1197365 [T/C] NM_182491 ZFAND2A EXON Missense_D26G exm598004 7 1197845 [C/G] NM_182491 ZFAND2A EXON Missense_E2Q exm2266498 7 1248880 [A/G] exm598050 7 1474260 [A/G] NM_182924 MICALL2 EXON Missense_P896L exm598068 7 1476378 [T/C] NM_182924 MICALL2 EXON Missense_R864Q exm598069 7 1476379 [A/G] NM_182924 MICALL2 EXON Missense_R864W exm598078 7 1477171 [T/C] NM_182924 MICALL2 EXON Missense_E826K exm598079 7 1477189 [A/G] NM_182924 MICALL2 EXON Missense_R820W exm598086 7 1477599 [A/G] NM_182924 MICALL2 EXON Missense_L777F exm598092 7 1477787 [A/C] NM_182924 MICALL2 EXON Missense_A753S exm598103 7 1477962 [A/G] NM_182924 MICALL2 EXON Missense_P717L exm598105 7 1477969 [T/G] NM_182924 MICALL2 EXON Missense_N715H exm598109 7 1477981 [A/C] NM_182924 MICALL2 EXON Missense_L711V exm598119 7 1478487 [T/A] NM_182924 MICALL2 EXON Missense_Q704L exm2142420 7 1478557 [A/G] NM_182924 MICALL2 EXON Missense_R681W exm598131 7 1478610 [T/C] NM_182924 MICALL2 EXON Missense_R663H exm598143 7 1479659 [T/C] NM_182924 MICALL2 EXON Missense_K623R exm2275929 7 1480247 [A/G] NM_182924 MICALL2 EXON Synonymous_D595D exm598151 7 1480252 [T/C] NM_182924 MICALL2 EXON Missense_V594M exm2142465 7 1481903 [A/C] NM_182924 MICALL2 EXON Missense_G546C exm598174 7 1481933 [T/C] NM_182924 MICALL2 EXON Missense_R536G exm598180 7 1481951 [T/C] NM_182924 MICALL2 EXON Missense_A530T exm598182 7 1481974 [A/G] NM_182924 MICALL2 EXON Missense_T522M exm598185 7 1481983 [A/G] NM_182924 MICALL2 EXON Missense_P519L exm598195 7 1482022 [T/C] NM_182924 MICALL2 EXON Missense_R506Q exm2258195 7 1482030 [T/C] NM_182924 MICALL2 EXON Synonymous_S503S exm598198 7 1482049 [A/G] NM_182924 MICALL2 EXON Missense_A497V exm598201 7 1482101 [C/G] NM_182924 MICALL2 EXON Missense_A480P exm2258196 7 1484347 [C/G] NM_182924 MICALL2 EXON Synonymous_R453R exm598221 7 1484418 [T/C] NM_182924 MICALL2 EXON Missense_T430A exm598225 7 1484457 [A/G] NM_182924 MICALL2 EXON Missense_R417W exm598231 7 1484556 [T/C] NM_182924 MICALL2 EXON Missense_V384M exm598232 7 1484559 [A/G] NM_182924 MICALL2 EXON Nonsense_R383X exm2258197 7 1484572 [A/G] NM_182924 MICALL2 EXON Synonymous_G378G exm598241 7 1484648 [A/G] NM_182924 MICALL2 EXON Missense_P353L exm598243 7 1484672 [A/G] NM_182924 MICALL2 EXON Missense_P345L exm598245 7 1484690 [T/C] NM_182924 MICALL2 EXON Missense_R339H exm598246 7 1484691 [A/G] NM_182924 MICALL2 EXON Missense_R339C exm598250 7 1484766 [T/C] NM_182924 MICALL2 EXON Missense_V314I exm598252 7 1484834 [A/G] NM_182924 MICALL2 EXON Missense_A291V exm598257 7 1484885 [T/C] NM_182924 MICALL2 EXON Missense_Q274R exm598258 7 1484891 [A/G] NM_182924 MICALL2 EXON Missense_S272F exm2142532 7 1484922 [T/C] NM_182924 MICALL2 EXON Missense_A262T exm598263 7 1484933 [T/C] NM_182924 MICALL2 EXON Missense_R258Q exm598273 7 1486380 [A/C] NM_182924 MICALL2 EXON Missense_D204Y exm598275 7 1486451 [A/G] NM_182924 MICALL2 EXON Missense_A180V exm598276 7 1486454 [A/G] NM_182924 MICALL2 EXON Missense_L179S exm598281 7 1487278 [A/G] NM_182924 MICALL2 EXON Missense_S153F exm598288 7 1487323 [A/G] NM_182924 MICALL2 EXON Missense_A138V exm598290 7 1487384 [A/C] NM_182924 MICALL2 EXON Missense_V118L exm598293 7 1487401 [A/G] NM_182924 MICALL2 EXON Missense_I112T exm598296 7 1488265 [A/G] NM_182924 MICALL2 EXON Missense_R109C exm598314 7 1498850 [C/G] NM_182924 MICALL2 EXON Missense_A38G exm598334 7 1511214 [A/C] NM_001080453 INTS1 EXON Missense_F2083C exm598335 7 1511236 [A/G] NM_001080453 INTS1 EXON Missense_R2076W exm598336 7 1511239 [A/G] NM_001080453 INTS1 EXON Missense_R2075W exm598344 7 1511954 [T/C] NM_001080453 INTS1 EXON Missense_M2047V exm2144131 7 1512808 [G/C] NM_001080453 INTS1 EXON Missense_F1990L exm598379 7 1514437 [A/G] NM_001080453 INTS1 EXON Missense_A1847V exm598387 7 1515634 [A/G] NM_001080453 INTS1 EXON Missense_P1818S exm598393 7 1515926 [T/C] NM_001080453 INTS1 EXON Missense_D1773N exm598422 7 1517477 [T/C] NM_001080453 INTS1 EXON Missense_A1576T exm2144217 7 1517500 [A/G] NM_001080453 INTS1 EXON Missense_A1568V exm598442 7 1518508 [T/C] NM_001080453 INTS1 EXON Missense_Q1448R exm598456 7 1519996 [T/C] NM_001080453 INTS1 EXON Missense_R1344Q exm598460 7 1520077 [T/C] NM_001080453 INTS1 EXON Missense_D1317G exm2258226 7 1521066 [A/G] NM_001080453 INTS1 EXON Synonymous_P1254P exm598479 7 1521066 [A/G] NM_001080453 INTS1 EXON Synonymous_P1254P exm598487 7 1522183 [A/G] NM_001080453 INTS1 EXON Synonymous_A1234A exm2144533 7 1522200 [A/G] NM_001080453 INTS1 EXON Missense_L1229F exm598501 7 1522342 [A/G] NM_001080453 INTS1 EXON Synonymous_A1181A exm2245340 7 1523386 [A/G] NM_001080453 INTS1 EXON Missense_P1178L exm598504 7 1523680 [A/G] NM_001080453 INTS1 EXON Missense_R1130C exm598505 7 1523686 [T/C] NM_001080453 INTS1 EXON Missense_V1128M exm598508 7 1523698 [A/T] NM_001080453 INTS1 EXON Missense_F1124I exm598515 7 1523742 [A/G] NM_001080453 INTS1 EXON Missense_P1109L exm598534 7 1524994 [C/G] NM_001080453 INTS1 EXON Missense_L1030V exm598561 7 1527021 [A/G] NM_001080453 INTS1 EXON Missense_R861C exm598563 7 1527062 [A/G] NM_001080453 INTS1 EXON Missense_P847L exm598581 7 1527576 [A/G] NM_001080453 INTS1 EXON Missense_P779L exm598585 7 1529013 [T/G] NM_001080453 INTS1 EXON Missense_T762N exm598591 7 1529251 [T/C] NM_001080453 INTS1 EXON Missense_A745T exm2258229 7 1529300 [A/G] NM_001080453 INTS1 EXON Synonymous_L728L exm598595 7 1529300 [A/G] NM_001080453 INTS1 EXON Synonymous_L728L exm598633 7 1536829 [G/C] NM_001080453 INTS1 EXON Missense_C516S exm598665 7 1538639 [T/C] NM_001080453 INTS1 EXON Missense_K370R exm598684 7 1539139 [T/C] NM_001080453 INTS1 EXON Missense_A272T exm598714 7 1542657 [A/G] NM_001080453 INTS1 EXON Missense_R77C exm598719 7 1542732 [T/C] NM_001080453 INTS1 EXON Missense_G52S exm598805 7 1579908 [A/G] NM_002360 MAFK EXON Missense_R123Q exm598864 7 1586617 [A/G] NM_001097620 TMEM184A EXON Missense_R405W exm598874 7 1586706 [A/G] NM_001097620 TMEM184A EXON Missense_T375M exm598884 7 1586816 [A/G] NM_001097620 TMEM184A EXON Synonymous_A338A exm598889 7 1587440 [A/G] NM_001097620 TMEM184A EXON Missense_S317F exm598893 7 1587516 [T/C] NM_001097620 TMEM184A EXON Missense_G292R exm598902 7 1588179 [T/C] NM_001097620 TMEM184A EXON Missense_V264I exm598903 7 1588182 [T/C] NM_001097620 TMEM184A EXON Missense_A263T exm2145465 7 1588206 [T/C] NM_001097620 TMEM184A EXON Missense_V255I exm598913 7 1588319 [T/C] NM_001097620 TMEM184A EXON Missense_R217H exm598929 7 1589800 [T/C] NM_001097620 TMEM184A EXON Missense_G171S exm2145517 7 1590517 [A/G] NM_001097620 TMEM184A EXON Synonymous_S107S exm2145520 7 1590591 [A/C] NM_001097620 TMEM184A EXON Missense_V83L exm598969 7 1595068 [A/G] NM_001097620 TMEM184A EXON Missense_A18V exm598975 7 1595108 [T/A] NM_001097620 TMEM184A EXON Missense_S5T exm598998 7 1608938 [A/G] NM_001134340,NM_032302 PSMG3,PSMG3 EXON Missense_T13M,Missense_T13M exm599053 7 1785662 [T/C] NM_001128636 ELFN1 EXON Missense_A477V exm2270569 7 1843966 [T/C] exm2266499 7 1854263 [A/G] exm-rs4721135 7 1912222 [A/G] NM_003550,NM_001013836,NM_001013837 MAD1L1,MAD1L1,MAD1L1 Silent,Silent,Silent exm599106 7 1937837 [T/C] NM_003550,NM_001013836,NM_001013837 MAD1L1,MAD1L1,MAD1L1 EXON Missense_K666R,Missense_K666R,Missense_K666R exm599116 7 1938000 [T/C] NM_003550,NM_001013836,NM_001013837 MAD1L1,MAD1L1,MAD1L1 EXON Missense_E612K,Missense_E612K,Missense_E612K exm599133 7 1976457 [T/C] NM_003550,NM_001013836,NM_001013837 MAD1L1,MAD1L1,MAD1L1 EXON Missense_R558H,Missense_R558H,Missense_R558H exm599139 7 1997277 [T/C] NM_003550,NM_001013836,NM_001013837 MAD1L1,MAD1L1,MAD1L1 EXON Missense_R528Q,Missense_R528Q,Missense_R528Q exm599145 7 2020094 [A/G] NM_003550,NM_001013836,NM_001013837 MAD1L1,MAD1L1,MAD1L1 EXON Missense_T500M,Missense_T500M,Missense_T500M exm599147 7 2020109 [A/C] NM_003550,NM_001013836,NM_001013837 MAD1L1,MAD1L1,MAD1L1 EXON Missense_R495M,Missense_R495M,Missense_R495M exm-rs1107592 7 2041432 [A/G] NM_003550,NM_001013836,NM_001013837 MAD1L1,MAD1L1,MAD1L1 Silent,Silent,Silent exm599159 7 2054189 [T/C] NM_003550,NM_001013836,NM_001013837 MAD1L1,MAD1L1,MAD1L1 EXON Missense_R436Q,Missense_R436Q,Missense_R436Q exm2146002 7 2054195 [T/C] NM_003550,NM_001013836,NM_001013837 MAD1L1,MAD1L1,MAD1L1 EXON Missense_R434H,Missense_R434H,Missense_R434H exm599172 7 2108864 [A/G] NM_003550,NM_001013836,NM_001013837 MAD1L1,MAD1L1,MAD1L1 EXON Missense_R395W,Missense_R395W,Missense_R395W exm599186 7 2188797 [T/C] NM_003550,NM_001013836,NM_001013837 MAD1L1,MAD1L1,MAD1L1 EXON Missense_V355I,Missense_V355I,Missense_V355I exm599188 7 2188814 [T/A] NM_003550,NM_001013836,NM_001013837 MAD1L1,MAD1L1,MAD1L1 EXON Missense_K349M,Missense_K349M,Missense_K349M exm599192 7 2252863 [A/T] NM_003550,NM_001013836,NM_001013837 MAD1L1,MAD1L1,MAD1L1 EXON Missense_M324L,Missense_M324L,Missense_M324L exm599196 7 2255548 [A/G] NM_003550,NM_001013836,NM_001013837 MAD1L1,MAD1L1,MAD1L1 EXON Missense_T299M,Missense_T299M,Missense_T299M exm2245439 7 2255814 [A/G] NM_003550,NM_001013836,NM_001013837 MAD1L1,MAD1L1,MAD1L1 EXON Missense_R263W,Missense_R263W,Missense_R263W exm599208 7 2255893 [G/C] NM_003550,NM_001013836,NM_001013837 MAD1L1,MAD1L1,MAD1L1 EXON Missense_E236D,Missense_E236D,Missense_E236D exm599230 7 2262245 [A/G] NM_003550,NM_001013836,NM_001013837 MAD1L1,MAD1L1,MAD1L1 EXON Missense_R146C,Missense_R146C,Missense_R146C exm599239 7 2262358 [T/G] NM_003550,NM_001013836,NM_001013837 MAD1L1,MAD1L1,MAD1L1 EXON Missense_T108K,Missense_T108K,Missense_T108K exm599253 7 2265161 [A/G] NM_003550,NM_001013836,NM_001013837 MAD1L1,MAD1L1,MAD1L1 EXON Missense_R59C,Missense_R59C,Missense_R59C exm599265 7 2274783 [T/C] NM_013393 FTSJ2 EXON Missense_G239R exm599270 7 2275010 [T/C] NM_013393 FTSJ2 EXON Missense_R163Q exm599271 7 2275011 [A/G] NM_013393 FTSJ2 EXON Missense_R163W exm599290 7 2279127 [T/C] NM_013393 FTSJ2 EXON Missense_R75Q exm599296 7 2279166 [T/C] NM_013393 FTSJ2 EXON Missense_E62G exm599301 7 2279284 [A/G] NM_013393 FTSJ2 EXON Missense_R23C exm599323 7 2284237 [G/C] NM_002452,NM_198949,NM_198948,NM_198952,NM_198950,NM_198954,NM_198953 NUDT1,NUDT1,NUDT1,NUDT1,NUDT1,NUDT1,NUDT1 EXON Missense_V10L,Missense_V33L,Missense_V10L,Missense_V33L,Missense_V10L,Missense_V33L,Missense_V10L exm599326 7 2284283 [A/G] NM_002452,NM_198949,NM_198948,NM_198952,NM_198950,NM_198954,NM_198953 NUDT1,NUDT1,NUDT1,NUDT1,NUDT1,NUDT1,NUDT1 EXON Missense_R25Q,Missense_R48Q,Missense_R25Q,Missense_R48Q,Missense_R25Q,Missense_R48Q,Missense_R25Q exm599327 7 2284291 [A/G] NM_002452,NM_198949,NM_198948,NM_198952,NM_198950,NM_198954,NM_198953 NUDT1,NUDT1,NUDT1,NUDT1,NUDT1,NUDT1,NUDT1 EXON Missense_G28R,Missense_G51R,Missense_G28R,Missense_G51R,Missense_G28R,Missense_G51R,Missense_G28R exm599328 7 2284297 [A/G] NM_002452,NM_198949,NM_198948,NM_198952,NM_198950,NM_198954,NM_198953 NUDT1,NUDT1,NUDT1,NUDT1,NUDT1,NUDT1,NUDT1 EXON Missense_G30S,Missense_G53S,Missense_G30S,Missense_G53S,Missense_G30S,Missense_G53S,Missense_G30S exm599329 7 2284301 [A/G] NM_002452,NM_198949,NM_198948,NM_198952,NM_198950,NM_198954,NM_198953 NUDT1,NUDT1,NUDT1,NUDT1,NUDT1,NUDT1,NUDT1 EXON Missense_R31Q,Missense_R54Q,Missense_R31Q,Missense_R54Q,Missense_R31Q,Missense_R54Q,Missense_R31Q exm599346 7 2289636 [T/C] NM_002452,NM_198949,NM_198948,NM_198952,NM_198950,NM_198954,NM_198953 NUDT1,NUDT1,NUDT1,NUDT1,NUDT1,NUDT1,NUDT1 EXON Synonymous_D99D,Synonymous_D122D,Synonymous_D99D,Synonymous_D122D,Synonymous_D99D,Synonymous_D122D,Synonymous_D99D exm599352 7 2290560 [T/A] NM_002452,NM_198949,NM_198948,NM_198952,NM_198950,NM_198954,NM_198953 NUDT1,NUDT1,NUDT1,NUDT1,NUDT1,NUDT1,NUDT1 EXON Missense_K132I,Missense_K155I,Missense_K132I,Missense_K155I,Missense_K132I,Missense_K155I,Missense_K132I exm599354 7 2290601 [A/C] NM_002452,NM_198949,NM_198948,NM_198952,NM_198950,NM_198954,NM_198953 NUDT1,NUDT1,NUDT1,NUDT1,NUDT1,NUDT1,NUDT1 EXON Missense_L146M,Missense_L169M,Missense_L146M,Missense_L169M,Missense_L146M,Missense_L169M,Missense_L146M exm599357 7 2290617 [A/G] NM_002452,NM_198949,NM_198948,NM_198952,NM_198950,NM_198954,NM_198953 NUDT1,NUDT1,NUDT1,NUDT1,NUDT1,NUDT1,NUDT1 EXON Missense_R151H,Missense_R174H,Missense_R151H,Missense_R174H,Missense_R151H,Missense_R174H,Missense_R151H exm599372 7 2294756 [G/C] NM_013321 SNX8 EXON Missense_A445P exm599379 7 2296552 [A/G] NM_013321 SNX8 EXON Missense_I414T exm599387 7 2296618 [T/A] NM_013321 SNX8 EXON Missense_F392Y exm599388 7 2296622 [A/T] NM_013321 SNX8 EXON Missense_Y391N exm599402 7 2302956 [C/G] NM_013321 SNX8 EXON Missense_A275G exm599403 7 2302977 [A/G] NM_013321 SNX8 EXON Missense_T268I exm599420 7 2304078 [T/C] NM_013321 SNX8 EXON Missense_D213N exm2146511 7 2309271 [T/C] NM_013321 SNX8 EXON Missense_V182M exm599456 7 2354035 [A/G] NM_013321 SNX8 EXON Missense_P8S exm2266366 7 2370956 [A/G] exm599475 7 2395043 [G/C] NM_003751,NM_001037283 EIF3B,EIF3B EXON Missense_V163L,Missense_V163L exm599481 7 2400417 [A/G] NM_003751,NM_001037283 EIF3B,EIF3B EXON Missense_N191S,Missense_N191S exm599484 7 2400427 [C/G] NM_003751,NM_001037283 EIF3B,EIF3B EXON Missense_Q194H,Missense_Q194H exm599499 7 2402724 [A/G] NM_003751,NM_001037283 EIF3B,EIF3B EXON Missense_E278K,Missense_E278K exm599509 7 2403371 [A/C] NM_003751,NM_001037283 EIF3B,EIF3B EXON Missense_D325E,Missense_D325E exm2146758 7 2405952 [A/G] NM_003751,NM_001037283 EIF3B,EIF3B EXON Synonymous_R386R,Synonymous_R386R exm599561 7 2415056 [T/C] NM_003751,NM_001037283 EIF3B,EIF3B EXON Missense_S641L,Missense_S641L exm599614 7 2472429 [A/C] NM_001243794,NM_001243795,NM_018641 CHST12,CHST12,CHST12 EXON Missense_P52H,Missense_P52H,Missense_P52H exm599622 7 2472555 [T/C] NM_001243794,NM_001243795,NM_018641 CHST12,CHST12,CHST12 EXON Missense_P94L,Missense_P94L,Missense_P94L exm599629 7 2472662 [G/C] NM_001243794,NM_001243795,NM_018641 CHST12,CHST12,CHST12 EXON Missense_G130R,Missense_G130R,Missense_G130R exm599632 7 2472707 [G/C] NM_001243794,NM_001243795,NM_018641 CHST12,CHST12,CHST12 EXON Missense_A145P,Missense_A145P,Missense_A145P exm599644 7 2472903 [G/C] NM_001243794,NM_001243795,NM_018641 CHST12,CHST12,CHST12 EXON Missense_A210G,Missense_A210G,Missense_A210G exm2146825 7 2472939 [A/G] NM_001243794,NM_001243795,NM_018641 CHST12,CHST12,CHST12 EXON Missense_R222H,Missense_R222H,Missense_R222H exm599655 7 2473059 [A/C] NM_001243794,NM_001243795,NM_018641 CHST12,CHST12,CHST12 EXON Missense_E262A,Missense_E262A,Missense_E262A exm599663 7 2473101 [A/G] NM_001243794,NM_001243795,NM_018641 CHST12,CHST12,CHST12 EXON Missense_R276Q,Missense_R276Q,Missense_R276Q exm2146829 7 2473130 [G/C] NM_001243794,NM_001243795,NM_018641 CHST12,CHST12,CHST12 EXON Missense_A286P,Missense_A286P,Missense_A286P exm599745 7 2552806 [C/G] NM_001166355 LFNG EXON Missense_W21C exm599789 7 2565088 [T/C] NM_001166355,NM_002304,NM_001040168,NM_001040167 LFNG,LFNG,LFNG,LFNG EXON Missense_R137W,Missense_R79W,Missense_R208W,Missense_R208W exm599791 7 2565119 [T/C] NM_001166355,NM_002304,NM_001040168,NM_001040167 LFNG,LFNG,LFNG,LFNG EXON Missense_P147L,Missense_P89L,Missense_P218L,Missense_P218L exm599792 7 2565133 [A/G] NM_001166355,NM_002304,NM_001040168,NM_001040167 LFNG,LFNG,LFNG,LFNG EXON Missense_V152I,Missense_V94I,Missense_V223I,Missense_V223I exm599796 7 2565157 [A/G] NM_001166355,NM_002304,NM_001040168,NM_001040167 LFNG,LFNG,LFNG,LFNG EXON Missense_D160N,Missense_D102N,Missense_D231N,Missense_D231N exm599797 7 2565181 [T/C] NM_001166355,NM_002304,NM_001040168,NM_001040167 LFNG,LFNG,LFNG,LFNG EXON Missense_R168W,Missense_R110W,Missense_R239W,Missense_R239W exm599804 7 2565371 [A/G] NM_001166355,NM_002304,NM_001040168,NM_001040167 LFNG,LFNG,LFNG,LFNG EXON Missense_R192H,Missense_R134H,Missense_R263H,Missense_R263H exm2146991 7 2565976 [A/G] NM_001166355,NM_002304,NM_001040168,NM_001040167 LFNG,LFNG,LFNG,LFNG EXON Missense_R236H,Missense_R178H,Missense_R307H,Missense_R307H exm599815 7 2566503 [T/C] NM_001166355,NM_002304,NM_001040168,NM_001040167 LFNG,LFNG,LFNG,LFNG EXON Missense_R270W,Missense_R212W,Missense_R341W,Missense_R341W exm599818 7 2566518 [A/G] NM_001166355,NM_002304,NM_001040168,NM_001040167 LFNG,LFNG,LFNG,LFNG EXON Missense_V275M,Missense_V217M,Missense_V346M,Missense_V346M exm599839 7 2577871 [T/G] NM_152743 BRAT1 EXON Missense_D766E exm599846 7 2577960 [A/G] NM_152743 BRAT1 EXON Missense_R737W exm599854 7 2578022 [A/G] NM_152743 BRAT1 EXON Missense_A716V exm599860 7 2578128 [T/C] NM_152743 BRAT1 EXON Missense_E681K exm599861 7 2578140 [T/C] NM_152743 BRAT1 EXON Missense_V677M exm599865 7 2578181 [T/C] NM_152743 BRAT1 EXON Missense_G663D exm599878 7 2578302 [T/C] NM_152743 BRAT1 EXON Missense_G623S exm599880 7 2578307 [T/C] NM_152743 BRAT1 EXON Missense_R621Q exm599881 7 2578308 [A/G] NM_152743 BRAT1 EXON Missense_R621W exm599882 7 2578341 [A/G] NM_152743 BRAT1 EXON Missense_R610W exm599886 7 2578371 [A/G] NM_152743 BRAT1 EXON Missense_L600F exm599894 7 2578857 [T/C] NM_152743 BRAT1 EXON Missense_G576S exm599897 7 2578890 [T/C] NM_152743 BRAT1 EXON Missense_A565T exm599901 7 2578947 [A/C] NM_152743 BRAT1 EXON Missense_V546L exm599904 7 2579181 [T/C] NM_152743 BRAT1 EXON Missense_G532R exm599911 7 2579268 [A/G] NM_152743 BRAT1 EXON Missense_P503S exm599922 7 2579467 [G/C] NM_152743 BRAT1 EXON Missense_T484S exm599923 7 2579497 [A/G] NM_152743 BRAT1 EXON Missense_T474M exm599941 7 2580962 [T/C] NM_152743 BRAT1 EXON Missense_D431N exm599943 7 2580986 [C/G] NM_152743 BRAT1 EXON Missense_V423L exm599959 7 2581447 [T/C] NM_152743 BRAT1 EXON Missense_D347N exm599968 7 2581807 [A/C] NM_152743 BRAT1 EXON Missense_L321R exm599969 7 2581814 [T/C] NM_152743 BRAT1 EXON Missense_V319I exm599975 7 2582877 [T/A] NM_152743 BRAT1 EXON Missense_M295K exm599976 7 2582878 [T/C] NM_152743 BRAT1 EXON Missense_M295V exm599978 7 2582907 [T/C] NM_152743 BRAT1 EXON Missense_R285Q exm599979 7 2582935 [T/C] NM_152743 BRAT1 EXON Missense_D276N exm599990 7 2583225 [A/G] NM_152743 BRAT1 EXON Missense_R268C exm599993 7 2583257 [T/G] NM_152743 BRAT1 EXON Missense_H257P exm599994 7 2583264 [T/C] NM_152743 BRAT1 EXON Missense_A255T exm600001 7 2583348 [A/G] NM_152743 BRAT1 EXON Missense_R227C exm600008 7 2583449 [A/G] NM_152743 BRAT1 EXON Missense_A193V exm600013 7 2583482 [T/C] NM_152743 BRAT1 EXON Missense_G182E exm600026 7 2583593 [A/G] NM_152743 BRAT1 EXON Missense_A145V exm2147056 7 2583596 [T/C] NM_152743 BRAT1 EXON Missense_G144D exm600058 7 2606797 [A/G] NM_001100390,NM_152558 IQCE,IQCE EXON Silent,Synonymous_T28T exm600062 7 2608628 [T/C] NM_001100390,NM_152558 IQCE,IQCE EXON Missense_S26L,Missense_S42L exm600064 7 2608634 [A/G] NM_001100390,NM_152558 IQCE,IQCE Silent,Silent exm600072 7 2611241 [A/G] NM_001100390,NM_152558 IQCE,IQCE EXON Missense_R55Q,Missense_R71Q exm600078 7 2611863 [G/C] NM_001100390,NM_152558 IQCE,IQCE EXON Missense_W83C,Missense_W99C exm600080 7 2611867 [A/C] NM_001100390,NM_152558 IQCE,IQCE EXON Missense_H85N,Missense_H101N exm600090 7 2611931 [A/G] NM_001100390,NM_152558 IQCE,IQCE EXON Missense_R106K,Missense_R122K exm600092 7 2611946 [A/G] NM_001100390,NM_152558 IQCE,IQCE EXON Missense_R111H,Missense_R127H exm600109 7 2617938 [C/G] NM_001100390,NM_152558 IQCE,IQCE EXON Missense_E160D,Missense_E176D exm600112 7 2617988 [A/G] NM_001100390,NM_152558 IQCE,IQCE EXON Missense_R177H,Missense_R193H exm600125 7 2623271 [G/C] NM_001100390,NM_152558 IQCE,IQCE EXON Missense_S218R,Missense_S234R exm600140 7 2625862 [T/C] NM_001100390,NM_152558 IQCE,IQCE EXON Missense_T266M,Missense_T282M exm600149 7 2625966 [T/C] NM_001100390,NM_152558 IQCE,IQCE EXON Missense_R301C,Missense_R317C exm600151 7 2626002 [C/G] NM_001100390,NM_152558 IQCE,IQCE EXON Missense_Q313E,Missense_Q329E exm2147181 7 2627489 [A/G] NM_001100390,NM_152558 IQCE,IQCE EXON Missense_R325K,Missense_R341K exm600166 7 2629607 [T/C] NM_001100390,NM_152558 IQCE,IQCE EXON Missense_C355R,Missense_C371R exm600168 7 2629644 [T/G] NM_001100390,NM_152558 IQCE,IQCE EXON Missense_R367L,Missense_R383L exm2258285 7 2629660 [A/G] NM_001100390,NM_152558 IQCE,IQCE EXON Synonymous_K372K,Synonymous_K388K exm600172 7 2629671 [A/G] NM_001100390,NM_152558 IQCE,IQCE EXON Missense_R376H,Missense_R392H exm600177 7 2632682 [T/C] NM_001100390,NM_152558 IQCE,IQCE EXON Missense_A408V,Missense_A424V exm600200 7 2638163 [C/G] NM_001100390,NM_152558 IQCE,IQCE EXON Missense_S486C,Missense_S502C exm600202 7 2638189 [T/C] NM_001100390,NM_152558 IQCE,IQCE EXON Missense_R495C,Missense_R511C exm600216 7 2644519 [T/C] NM_001100390,NM_152558 IQCE,IQCE EXON Missense_A530V,Missense_A546V exm600219 7 2644537 [G/C] NM_001100390,NM_152558 IQCE,IQCE EXON Missense_A536G,Missense_A552G exm600222 7 2644570 [T/C] NM_001100390,NM_152558 IQCE,IQCE EXON Missense_L547S,Missense_L563S exm600228 7 2645522 [T/C] NM_001100390,NM_152558 IQCE,IQCE EXON Missense_P570S,Missense_P586S exm600232 7 2645552 [A/G] NM_001100390,NM_152558 IQCE,IQCE EXON Missense_T580A,Missense_T596A exm600234 7 2645564 [G/C] NM_001100390,NM_152558 IQCE,IQCE EXON Missense_V584L,Missense_V600L exm600239 7 2645603 [T/C] NM_001100390,NM_152558 IQCE,IQCE EXON Missense_R597W,Missense_R613W exm600244 7 2645619 [A/G] NM_001100390,NM_152558 IQCE,IQCE EXON Missense_R602Q,Missense_R618Q exm600253 7 2646796 [A/G] NM_001100390,NM_152558 IQCE,IQCE EXON Missense_R619K,Missense_R635K exm600254 7 2646805 [C/G] NM_001100390,NM_152558 IQCE,IQCE EXON Missense_S622W,Missense_S638W exm600255 7 2646819 [A/C] NM_001100390,NM_152558 IQCE,IQCE EXON Missense_H627N,Missense_H643N exm600261 7 2649680 [T/C] NM_001100390,NM_152558 IQCE,IQCE EXON Missense_P642S,Missense_P658S exm600264 7 2649704 [T/G] NM_001100390,NM_152558 IQCE,IQCE EXON Missense_L650V,Missense_L666V exm600271 7 2649765 [T/C] NM_001100390,NM_152558 IQCE,IQCE EXON Missense_P670L,Missense_P686L exm600272 7 2649777 [T/C] NM_001100390,NM_152558 IQCE,IQCE EXON Missense_T674M,Missense_T690M exm600278 7 2671844 [C/G] NM_025250 TTYH3 EXON Missense_P19A exm600280 7 2671862 [T/G] NM_025250 TTYH3 EXON Missense_W25G exm600288 7 2686564 [T/G] NM_025250 TTYH3 EXON Missense_W67C exm600300 7 2686861 [A/C] NM_025250 TTYH3 EXON Missense_R127S exm600324 7 2689577 [A/G] NM_025250 TTYH3 EXON Missense_A276T exm600325 7 2689583 [A/G] NM_025250 TTYH3 EXON Missense_V278M exm600326 7 2689593 [A/T] NM_025250 TTYH3 EXON Missense_M281K exm600328 7 2691838 [G/C] NM_025250 TTYH3 EXON Missense_L297V exm600330 7 2691854 [A/G] NM_025250 TTYH3 EXON Missense_R302H exm2275931 7 2695750 [A/G] NM_025250 TTYH3 EXON Missense_V349M exm600358 7 2696150 [A/G] NM_025250 TTYH3 EXON Missense_H411R exm600378 7 2701336 [T/C] NM_025250 TTYH3 EXON Missense_T512M exm600381 7 2701363 [G/C] NM_025250 TTYH3 EXON Missense_G521A exm2262294 7 2705266 [A/G] exm600389 7 2740104 [A/G] NM_133463 AMZ1 EXON Missense_A7T exm600413 7 2740380 [T/C] NM_133463 AMZ1 EXON Nonsense_Q99X exm2245510 7 2742449 [T/C] NM_133463 AMZ1 EXON Missense_P133L exm600433 7 2748223 [T/C] NM_133463 AMZ1 EXON Synonymous_D158D exm600434 7 2748224 [A/G] NM_133463 AMZ1 EXON Missense_G159S exm600436 7 2748227 [A/C] NM_133463 AMZ1 EXON Missense_I160L exm600441 7 2748264 [T/C] NM_133463 AMZ1 EXON Missense_A172V exm2245511 7 2748349 [T/C] NM_133463 AMZ1 EXON Synonymous_H200H exm600445 7 2748350 [A/G] NM_133463 AMZ1 EXON Missense_E201K exm600448 7 2748717 [A/G] NM_133463 AMZ1 EXON Missense_V204I exm600463 7 2748830 [T/G] NM_133463 AMZ1 EXON Missense_R241S exm2245512 7 2749278 [T/C] NM_133463 AMZ1 EXON Missense_T259M exm600470 7 2749317 [T/G] NM_133463 AMZ1 EXON Missense_C272F exm600478 7 2749365 [C/G] NM_133463 AMZ1 EXON Missense_A288G exm600479 7 2749370 [T/C] NM_133463 AMZ1 EXON Missense_R290W exm2147450 7 2749371 [A/G] NM_133463 AMZ1 EXON Missense_R290Q exm600480 7 2749374 [A/G] NM_133463 AMZ1 EXON Missense_R291Q exm600482 7 2749437 [T/C] NM_133463 AMZ1 EXON Missense_I312T exm600483 7 2749439 [A/G] NM_133463 AMZ1 EXON Missense_E313K exm600484 7 2751963 [C/G] NM_133463 AMZ1 Silent exm600497 7 2752046 [T/C] NM_133463 AMZ1 EXON Missense_P344L exm600516 7 2752132 [A/G] NM_133463 AMZ1 EXON Missense_G373R exm2245514 7 2752159 [G/C] NM_133463 AMZ1 EXON Missense_E382Q exm600520 7 2752180 [A/G] NM_133463 AMZ1 EXON Missense_A389T exm600523 7 2752196 [T/C] NM_133463 AMZ1 EXON Missense_P394L exm600530 7 2752278 [A/C] NM_133463 AMZ1 EXON Missense_E421D exm600534 7 2752322 [T/C] NM_133463 AMZ1 EXON Missense_A436V exm600535 7 2752330 [T/C] NM_133463 AMZ1 EXON Missense_R439C exm600536 7 2752346 [T/C] NM_133463 AMZ1 EXON Missense_T444M exm600539 7 2752383 [A/C] NM_133463 AMZ1 EXON Missense_S456R exm600552 7 2752478 [T/C] NM_133463 AMZ1 EXON Missense_S488L exm600556 7 2752487 [A/G] NM_133463 AMZ1 EXON Missense_R491H exm-rs798544 7 2763102 [T/C] exm600573 7 2771003 [T/C] NM_007353 GNA12 EXON Missense_D320N exm600576 7 2771120 [T/C] NM_007353 GNA12 EXON Missense_V281I exm600582 7 2771312 [T/C] NM_007353 GNA12 EXON Missense_V217I exm-rs798502 7 2789880 [A/C] NM_007353 GNA12 Silent exm-rs798497 7 2795957 [A/G] NM_007353 GNA12 Silent exm-rs798489 7 2801803 [T/C] NM_007353 GNA12 Silent exm2258294 7 2834577 [T/C] NM_007353 GNA12 EXON Synonymous_R170R exm600618 7 2834726 [A/G] NM_007353 GNA12 EXON Missense_Y121H exm-rs1182188 7 2869985 [T/C] NM_007353 GNA12 Silent exm600656 7 2946283 [T/C] NM_032415 CARD11 EXON Missense_D1152N exm2245524 7 2946368 [C/G] NM_032415 CARD11 EXON Missense_D1123E exm600673 7 2951811 [T/C] NM_032415 CARD11 EXON Missense_A1047T exm2245525 7 2951838 [T/C] NM_032415 CARD11 EXON Missense_A1038T exm600682 7 2951891 [A/G] NM_032415 CARD11 EXON Missense_T1020M exm600683 7 2951925 [T/C] NM_032415 CARD11 EXON Missense_V1009I exm600684 7 2951930 [T/C] NM_032415 CARD11 EXON Missense_D1007G exm600696 7 2953020 [A/G] NM_032415 CARD11 EXON Missense_R974C exm600699 7 2953041 [A/G] NM_032415 CARD11 EXON Missense_R967C exm600732 7 2959240 [T/C] NM_032415 CARD11 EXON Missense_R759Q exm2147725 7 2962364 [T/C] NM_032415 CARD11 EXON Missense_S725G exm600742 7 2962789 [A/G] NM_032415 CARD11 EXON Missense_R707C exm600748 7 2962848 [A/G] NM_032415 CARD11 EXON Missense_A687V exm600757 7 2962914 [A/G] NM_032415 CARD11 EXON Missense_S665L exm600760 7 2962933 [T/C] NM_032415 CARD11 EXON Missense_V659M exm600779 7 2968245 [T/C] NM_032415 CARD11 EXON Missense_A581T exm2270570 7 2969085 [T/C] NM_032415 CARD11 Silent exm600786 7 2969649 [T/G] NM_032415 CARD11 EXON Missense_I544L exm600788 7 2969669 [G/C] NM_032415 CARD11 EXON Missense_S537T exm600792 7 2969689 [T/G] NM_032415 CARD11 EXON Missense_E530D exm600793 7 2969698 [T/G] NM_032415 CARD11 EXON Missense_H527Q exm600803 7 2974232 [A/C] NM_032415 CARD11 EXON Missense_I458S exm600837 7 2983958 [T/C] NM_032415 CARD11 EXON Missense_N191S exm600839 7 2984019 [T/C] NM_032415 CARD11 EXON Missense_V171M exm600854 7 2987413 [T/G] NM_032415 CARD11 EXON Missense_P6T exm2270571 7 3147020 [T/C] exm600873 7 3658736 [T/C] NM_152744 SDK1 EXON Missense_T108M exm600881 7 3658832 [A/G] NM_152744 SDK1 EXON Missense_R140H exm600883 7 3658850 [C/G] NM_152744 SDK1 EXON Missense_T146S exm600891 7 3678664 [A/G] NM_152744 SDK1 EXON Missense_D163N exm600893 7 3678680 [A/G] NM_152744 SDK1 EXON Missense_R168H exm600900 7 3681615 [C/G] NM_152744 SDK1 EXON Missense_D197E exm600902 7 3681628 [A/G] NM_152744 SDK1 EXON Missense_V202I exm600903 7 3681640 [A/C] NM_152744 SDK1 EXON Missense_R206S exm600904 7 3681647 [G/C] NM_152744 SDK1 EXON Missense_A208G exm2245591 7 3681731 [A/G] NM_152744 SDK1 EXON Missense_N236S exm2266501 7 3720117 [A/G] NM_152744 SDK1 Silent exm2149101 7 3861113 [G/C] NM_152744 SDK1 EXON Missense_L249V exm600911 7 3861116 [A/G] NM_152744 SDK1 EXON Missense_A250T exm2149102 7 3861129 [T/G] NM_152744 SDK1 EXON Missense_S254I exm600913 7 3861149 [A/G] NM_152744 SDK1 EXON Missense_V261M exm-rs6462411 7 3915564 [T/C] NM_152744 SDK1 Silent exm600918 7 3990590 [A/G] NM_152744 SDK1 EXON Missense_I295V exm600926 7 3990657 [T/C] NM_152744 SDK1 EXON Missense_A317V exm600932 7 3991439 [A/G] NM_152744 SDK1 EXON Missense_R346H exm600936 7 3991463 [T/C] NM_152744 SDK1 EXON Missense_S354F exm600946 7 3991493 [T/C] NM_152744 SDK1 EXON Missense_A364V exm600948 7 3991502 [T/C] NM_152744 SDK1 EXON Missense_P367L exm600951 7 3998566 [T/C] NM_152744 SDK1 EXON Missense_P385L exm600964 7 4002369 [A/G] NM_152744 SDK1 EXON Missense_A439T exm600966 7 4002375 [A/G] NM_152744 SDK1 EXON Missense_G441R exm600989 7 4007018 [A/G] NM_152744 SDK1 EXON Missense_R500G exm600992 7 4007060 [A/G] NM_152744 SDK1 EXON Missense_K514E exm600994 7 4008895 [A/G] NM_152744 SDK1 EXON Missense_H518R exm600998 7 4008969 [A/G] NM_152744 SDK1 EXON Missense_V543I exm601010 7 4011112 [A/G] NM_152744 SDK1 EXON Missense_V577I exm601015 7 4014001 [G/C] NM_152744 SDK1 EXON Synonymous_R606R exm601019 7 4014039 [T/C] NM_152744 SDK1 EXON Missense_S619L exm601051 7 4050627 [A/G] NM_152744 SDK1 EXON Missense_V721I exm2149352 7 4051752 [A/G] NM_152744 SDK1 EXON Missense_S769G exm601076 7 4056915 [A/G] NM_152744 SDK1 EXON Missense_V845M exm601081 7 4056945 [A/G] NM_152744 SDK1 EXON Missense_V855I exm2149362 7 4088988 [A/G] NM_152744 SDK1 EXON Missense_A871T exm601090 7 4091283 [T/C] NM_152744 SDK1 EXON Missense_P911L exm601101 7 4107520 [C/G] NM_152744 SDK1 EXON Missense_L988V exm601105 7 4116656 [A/G] NM_152744 SDK1 EXON Missense_G1013S exm601106 7 4116665 [A/G] NM_152744 SDK1 EXON Missense_D1016N exm601107 7 4116671 [T/C] NM_152744 SDK1 EXON Missense_R1018C exm601110 7 4116699 [T/C] NM_152744 SDK1 EXON Missense_T1027M exm601119 7 4119097 [T/C] NM_152744 SDK1 EXON Missense_L1069F exm601125 7 4119163 [T/C] NM_152744 SDK1 EXON Missense_R1091W exm601127 7 4119167 [G/C] NM_152744 SDK1 EXON Missense_P1092R exm2149384 7 4150304 [A/G] NM_152744 SDK1 EXON Missense_I1112V exm601147 7 4153009 [A/G] NM_152744 SDK1 EXON Missense_V1175M exm2149389 7 4153057 [T/C] NM_152744 SDK1 EXON Missense_R1191W exm601160 7 4153768 [A/G] NM_152744 SDK1 EXON Missense_V1229I exm601177 7 4167045 [A/G] NM_152744 SDK1 EXON Missense_E1286K exm601187 7 4169549 [T/C] NM_152744,NM_001079653 SDK1,SDK1 EXON Missense_R1317W,Silent exm601188 7 4169550 [A/G] NM_152744,NM_001079653 SDK1,SDK1 EXON Missense_R1317Q,Silent exm601195 7 4169607 [A/C] NM_152744,NM_001079653 SDK1,SDK1 EXON Missense_Q1336P,Silent exm601202 7 4169697 [T/C] NM_152744,NM_001079653 SDK1,SDK1 EXON Missense_T1366M,Silent exm601211 7 4172011 [A/G] NM_152744,NM_001079653 SDK1,SDK1 EXON Missense_R1395Q,Silent exm2275932 7 4185407 [A/G] NM_152744,NM_001079653 SDK1,SDK1 EXON Missense_V1428M,Silent exm601261 7 4189088 [A/G] NM_152744,NM_001079653 SDK1,SDK1 EXON Missense_V1540I,Missense_V27I exm601271 7 4201448 [T/C] NM_152744,NM_001079653 SDK1,SDK1 EXON Missense_A1587V,Missense_A74V exm601273 7 4201450 [A/G] NM_152744,NM_001079653 SDK1,SDK1 EXON Missense_T1588A,Missense_T75A exm601287 7 4213965 [A/G] NM_152744,NM_001079653 SDK1,SDK1 EXON Missense_I1638V,Missense_I125V exm601288 7 4213975 [A/G] NM_152744,NM_001079653 SDK1,SDK1 EXON Missense_H1641R,Missense_H128R exm601310 7 4218155 [A/G] NM_152744,NM_001079653 SDK1,SDK1 EXON Missense_A1679T,Missense_A166T exm2149520 7 4245529 [A/C] NM_152744,NM_001079653 SDK1,SDK1 EXON Missense_Q1706P,Missense_Q193P exm601356 7 4247821 [A/C] NM_152744,NM_001079653 SDK1,SDK1 EXON Missense_T1769P,Missense_T256P exm601387 7 4259879 [A/G] NM_152744,NM_001079653 SDK1,SDK1 EXON Missense_N1893S,Missense_N380S exm601392 7 4259894 [A/C] NM_152744,NM_001079653 SDK1,SDK1 EXON Missense_P1898Q,Missense_P385Q exm601399 7 4260921 [A/C] NM_152744,NM_001079653 SDK1,SDK1 EXON Missense_L1918M,Missense_L405M exm601423 7 4272893 [G/C] NM_152744,NM_001079653 SDK1,SDK1 EXON Missense_G1945A,Missense_G432A exm601428 7 4272931 [A/G] NM_152744,NM_001079653 SDK1,SDK1 EXON Missense_A1958T,Missense_A445T exm601435 7 4277293 [A/C] NM_152744,NM_001079653 SDK1,SDK1 EXON Missense_P2003T,Missense_P490T exm601439 7 4277369 [T/C] NM_152744,NM_001079653 SDK1,SDK1 EXON Missense_A2028V,Missense_A515V exm601440 7 4277374 [A/G] NM_152744,NM_001079653 SDK1,SDK1 EXON Missense_V2030I,Missense_V517I exm601449 7 4281500 [A/G] NM_152744,NM_001079653 SDK1,SDK1 EXON Missense_R2069H,Missense_R556H exm601461 7 4285364 [A/G] NM_152744,NM_001079653 SDK1,SDK1 EXON Missense_N2103S,Missense_N590S exm601464 7 4285381 [A/G] NM_152744,NM_001079653 SDK1,SDK1 EXON Missense_V2109M,Missense_V596M exm601469 7 4285414 [T/C] NM_152744,NM_001079653 SDK1,SDK1 EXON Missense_S2120P,Missense_S607P exm601474 7 4304780 [A/G] NM_152744,NM_001079653 SDK1,SDK1 EXON Missense_A2136T,Missense_A623T exm2258345 7 4392176 [T/C] exm-rs10488360 7 4411209 [A/G] exm-rs1568731 7 4665570 [A/G] exm2258365 7 4780604 [A/G] NM_001037165 FOXK1 EXON Synonymous_P232P exm2150840 7 4798726 [A/G] NM_001037165 FOXK1 EXON Missense_R430H exm601582 7 4800715 [A/G] NM_001037165 FOXK1 EXON Missense_I573V exm601603 7 4801862 [A/G] NM_001037165 FOXK1 EXON Missense_A657T exm601604 7 4801863 [T/C] NM_001037165 FOXK1 EXON Missense_A657V exm601616 7 4801973 [A/G] NM_001037165 FOXK1 EXON Missense_A694T exm601637 7 4820915 [A/G] NM_014855 AP5Z1 EXON Missense_I51V exm601638 7 4820928 [T/C] NM_014855 AP5Z1 EXON Missense_T55M exm601639 7 4820940 [A/G] NM_014855 AP5Z1 EXON Missense_R59Q exm2150936 7 4821257 [A/G] NM_014855 AP5Z1 EXON Missense_E80K exm601648 7 4821300 [C/G] NM_014855 AP5Z1 EXON Missense_S94C exm601651 7 4821332 [T/C] NM_014855 AP5Z1 EXON Missense_H105Y exm601655 7 4821352 [C/G] NM_014855 AP5Z1 EXON Missense_Q111H exm601659 7 4822959 [A/G] NM_014855 AP5Z1 EXON Missense_E127K exm601666 7 4823008 [A/G] NM_014855 AP5Z1 EXON Missense_R143Q exm601670 7 4823061 [A/G] NM_014855 AP5Z1 EXON Missense_V161M exm2150943 7 4823070 [A/G] NM_014855 AP5Z1 EXON Missense_S164G exm601687 7 4823883 [T/C] NM_014855 AP5Z1 EXON Missense_T224M exm601712 7 4824622 [T/C] NM_014855 AP5Z1 EXON Missense_R292W exm601713 7 4824629 [A/G] NM_014855 AP5Z1 EXON Missense_R294Q exm601724 7 4825069 [A/G] NM_014855 AP5Z1 EXON Missense_D319N exm601728 7 4825186 [G/C] NM_014855 AP5Z1 EXON Missense_L335V exm601735 7 4825314 [T/C] NM_014855 AP5Z1 EXON Synonymous_H377H exm601782 7 4827859 [A/G] NM_014855 AP5Z1 EXON Missense_R510Q exm601787 7 4827897 [T/C] NM_014855 AP5Z1 EXON Missense_R523C exm601788 7 4827903 [A/C] NM_014855 AP5Z1 EXON Missense_K525Q exm601798 7 4828518 [A/G] NM_014855 AP5Z1 EXON Missense_R548H exm601799 7 4828541 [A/G] NM_014855 AP5Z1 EXON Missense_V556M exm601805 7 4829472 [A/G] NM_014855 AP5Z1 EXON Missense_G573R exm601826 7 4830200 [C/G] NM_014855 AP5Z1 EXON Missense_R639T exm601829 7 4830220 [A/G] NM_014855 AP5Z1 EXON Missense_V646M exm601833 7 4830329 [T/C] NM_014855 AP5Z1 EXON Missense_S655L exm601836 7 4830350 [A/G] NM_014855 AP5Z1 EXON Missense_C662Y exm601839 7 4830379 [A/G] NM_014855 AP5Z1 EXON Missense_E672K exm601842 7 4830425 [G/C] NM_014855 AP5Z1 EXON Missense_S687C exm601846 7 4830460 [A/C] NM_014855 AP5Z1 EXON Missense_T699P exm601847 7 4830463 [A/G] NM_014855 AP5Z1 EXON Missense_V700M exm601850 7 4830496 [G/C] NM_014855 AP5Z1 EXON Missense_R711G exm601859 7 4830786 [A/C] NM_014855 AP5Z1 EXON Missense_S732R exm601870 7 4830822 [A/G] NM_014855 AP5Z1 EXON Missense_A744T exm601874 7 4830861 [G/C] NM_014855 AP5Z1 EXON Missense_L757V exm601876 7 4830879 [A/G] NM_014855 AP5Z1 EXON Missense_V763M exm601877 7 4830897 [A/G] NM_014855 AP5Z1 EXON Missense_T769A exm601879 7 4830920 [A/C] NM_014855 AP5Z1 EXON Missense_S776R exm601884 7 4830979 [A/G] NM_014855 AP5Z1 EXON Missense_R796Q exm601891 7 4839025 [T/C] NM_018059 RADIL EXON Missense_R1071H exm601917 7 4839837 [A/G] NM_018059 RADIL EXON Missense_P983S exm601919 7 4839882 [T/C] NM_018059 RADIL EXON Missense_T968A exm601921 7 4839893 [T/C] NM_018059 RADIL EXON Missense_R964H exm601922 7 4839894 [A/G] NM_018059 RADIL EXON Missense_R964C exm2277346 7 4839909 [A/G] NM_018059 RADIL EXON Missense_P959S exm601932 7 4841289 [A/G] NM_018059 RADIL EXON Missense_P946L exm601933 7 4841302 [A/G] NM_018059 RADIL EXON Missense_R942W exm601938 7 4841349 [A/C] NM_018059 RADIL EXON Missense_C926F exm601942 7 4841383 [A/C] NM_018059 RADIL EXON Missense_G915W exm601962 7 4841553 [A/G] NM_018059 RADIL EXON Missense_P858L exm601967 7 4841614 [T/C] NM_018059 RADIL EXON Missense_V838M exm601979 7 4843307 [T/C] NM_018059 RADIL EXON Missense_N790S exm601981 7 4843335 [T/C] NM_018059 RADIL EXON Missense_D781N exm602002 7 4854998 [T/C] NM_018059 RADIL EXON Missense_A684T exm602009 7 4855862 [T/C] NM_018059 RADIL EXON Missense_R655G exm602013 7 4855934 [C/G] NM_018059 RADIL EXON Missense_E631Q exm602016 7 4855994 [A/G] NM_018059 RADIL EXON Missense_R611C exm2258372 7 4856076 [T/C] NM_018059 RADIL EXON Synonymous_P583P exm602021 7 4856880 [T/C] NM_018059 RADIL EXON Missense_Y573C exm602022 7 4856887 [T/C] NM_018059 RADIL EXON Missense_V571I exm602024 7 4856904 [T/C] NM_018059 RADIL EXON Missense_Y565C exm602035 7 4862157 [T/C] NM_018059 RADIL EXON Missense_A495T exm602037 7 4862171 [A/G] NM_018059 RADIL EXON Missense_S490L exm602039 7 4871805 [A/T] NM_018059 RADIL EXON Missense_K474I exm2245721 7 4874251 [T/C] NM_018059 RADIL EXON Missense_R468H exm602048 7 4874407 [A/G] NM_018059 RADIL EXON Missense_T416M exm602049 7 4874420 [C/G] NM_018059 RADIL EXON Missense_H412D exm2151279 7 4874645 [T/C] NM_018059 RADIL EXON Missense_V337M exm602068 7 4874729 [G/C] NM_018059 RADIL EXON Missense_G309R exm602069 7 4874735 [T/C] NM_018059 RADIL EXON Missense_D307N exm602085 7 4876055 [T/G] NM_018059 RADIL EXON Missense_D239E exm602086 7 4876057 [T/C] NM_018059 RADIL EXON Missense_D239N exm602098 7 4876207 [A/G] NM_018059 RADIL EXON Missense_R189W exm602101 7 4899575 [A/G] NM_018059,NM_020144 RADIL,PAPOLB EXON Silent,Missense_H623Y exm602105 7 4899640 [A/G] NM_018059,NM_020144 RADIL,PAPOLB EXON Silent,Missense_P601L exm602108 7 4899667 [T/C] NM_018059,NM_020144 RADIL,PAPOLB EXON Silent,Missense_E592G exm602110 7 4899685 [A/G] NM_018059,NM_020144 RADIL,PAPOLB EXON Silent,Missense_S586L exm602111 7 4899694 [T/C] NM_018059,NM_020144 RADIL,PAPOLB EXON Silent,Missense_N583S exm602114 7 4899793 [T/C] NM_018059,NM_020144 RADIL,PAPOLB EXON Silent,Missense_S550N exm-rs1553960 7 4900095 [A/G] NM_018059,NM_020144 RADIL,PAPOLB EXON Silent,Synonymous_N449N exm602129 7 4900165 [T/C] NM_018059,NM_020144 RADIL,PAPOLB EXON Silent,Missense_K426R exm602141 7 4900630 [T/C] NM_018059,NM_020144 RADIL,PAPOLB EXON Silent,Missense_R271Q exm602147 7 4900756 [T/C] NM_018059,NM_020144 RADIL,PAPOLB EXON Silent,Missense_K229R exm602158 7 4900991 [C/G] NM_018059,NM_020144 RADIL,PAPOLB EXON Silent,Missense_E151Q exm602164 7 4901191 [T/C] NM_018059,NM_020144 RADIL,PAPOLB EXON Silent,Missense_K84R exm602175 7 4901385 [A/C] NM_018059,NM_020144 RADIL,PAPOLB EXON Silent,Missense_N19K exm602177 7 4901407 [A/G] NM_018059,NM_020144 RADIL,PAPOLB EXON Silent,Missense_P12L exm602206 7 4917629 [T/C] NM_018059 RADIL EXON Missense_A48T exm602223 7 4947191 [A/C] NR_072989,NM_198403,NM_001270375,NM_001100600 MMD2,MMD2,MMD2,MMD2 EXON Silent,Missense_V193F,Silent,Missense_V217F exm602248 7 4955682 [A/C] NR_072989,NM_198403,NM_001270375,NM_001100600 MMD2,MMD2,MMD2,MMD2 EXON Silent,Missense_D107Y,Missense_D107Y,Missense_D107Y exm602249 7 4955706 [A/C] NR_072989,NM_198403,NM_001270375,NM_001100600 MMD2,MMD2,MMD2,MMD2 EXON Silent,Missense_V99L,Missense_V99L,Missense_V99L exm2258375 7 4959807 [A/G] NR_072989,NM_198403,NM_001270375,NM_001100600 MMD2,MMD2,MMD2,MMD2 EXON Silent,Synonymous_H95H,Synonymous_H95H,Synonymous_H95H exm602304 7 5103404 [A/G] NM_001204456,NM_001204513,NM_021163 RBAK,RBAK-LOC389458,RBAK EXON Missense_N106S,Silent,Missense_N106S exm2151479 7 5103447 [A/C] NM_001204456,NM_001204513,NM_021163 RBAK,RBAK-LOC389458,RBAK EXON Missense_Q120H,Silent,Missense_Q120H exm602306 7 5103491 [A/G] NM_001204456,NM_001204513,NM_021163 RBAK,RBAK-LOC389458,RBAK EXON Missense_H135R,Silent,Missense_H135R exm602309 7 5103530 [T/C] NM_001204456,NM_001204513,NM_021163 RBAK,RBAK-LOC389458,RBAK EXON Missense_S148L,Silent,Missense_S148L exm602311 7 5103622 [A/G] NM_001204456,NM_001204513,NM_021163 RBAK,RBAK-LOC389458,RBAK EXON Missense_E179K,Silent,Missense_E179K exm602315 7 5103773 [A/G] NM_001204456,NM_001204513,NM_021163 RBAK,RBAK-LOC389458,RBAK EXON Missense_G229E,Silent,Missense_G229E exm602317 7 5103827 [A/G] NM_001204456,NM_001204513,NM_021163 RBAK,RBAK-LOC389458,RBAK EXON Missense_N247S,Silent,Missense_N247S exm602326 7 5104123 [A/G] NM_001204456,NM_001204513,NM_021163 RBAK,RBAK-LOC389458,RBAK EXON Missense_E346K,Silent,Missense_E346K exm602345 7 5104514 [A/G] NM_001204456,NM_001204513,NM_021163 RBAK,RBAK-LOC389458,RBAK EXON Missense_R476Q,Silent,Missense_R476Q exm602350 7 5104585 [A/G] NM_001204456,NM_001204513,NM_021163 RBAK,RBAK-LOC389458,RBAK EXON Missense_D500N,Silent,Missense_D500N exm602361 7 5104766 [A/G] NM_001204456,NM_001204513,NM_021163 RBAK,RBAK-LOC389458,RBAK EXON Missense_S560N,Silent,Missense_S560N exm602365 7 5104921 [A/G] NM_001204456,NM_001204513,NM_021163 RBAK,RBAK-LOC389458,RBAK EXON Missense_I612V,Silent,Missense_I612V exm602378 7 5105135 [A/G] NM_001204456,NM_001204513,NM_021163 RBAK,RBAK-LOC389458,RBAK EXON Missense_E683G,Silent,Missense_E683G exm2258381 7 5106222 [T/C] NM_001204456,NM_001204513,NM_021163 RBAK,RBAK-LOC389458,RBAK EXON Silent,Silent,Silent exm602386 7 5112554 [A/C] NM_001204513,NR_015343 RBAK-LOC389458,LOC389458 EXON Silent,Silent exm602411 7 5112853 [C/G] NM_001204513,NR_015343 RBAK-LOC389458,LOC389458 EXON Silent,Silent exm602434 7 5232789 [T/C] NM_015610,NM_016003,NM_001033519,NM_001033518 WIPI2,WIPI2,WIPI2,WIPI2 EXON Missense_R39C,Silent,Silent,Missense_R39C exm602454 7 5254139 [T/C] NM_015610,NM_016003,NM_001033519,NM_001033518,NM_001033520 WIPI2,WIPI2,WIPI2,WIPI2,WIPI2 EXON Silent,Silent,Silent,Silent,Missense_T3M exm602485 7 5265491 [A/G] NM_015610,NM_016003,NM_001033519,NM_001033518,NM_001033520 WIPI2,WIPI2,WIPI2,WIPI2,WIPI2 EXON Missense_G260S,Missense_G242S,Missense_G242S,Missense_G260S,Missense_G201S exm602492 7 5266906 [A/G] NM_015610,NM_016003,NM_001033519,NM_001033518,NM_001033520 WIPI2,WIPI2,WIPI2,WIPI2,WIPI2 EXON Missense_N315S,Missense_N297S,Missense_N297S,Missense_N315S,Missense_N256S exm602495 7 5266933 [G/C] NM_015610,NM_016003,NM_001033519,NM_001033518,NM_001033520 WIPI2,WIPI2,WIPI2,WIPI2,WIPI2 EXON Missense_R324P,Missense_R306P,Missense_R306P,Missense_R324P,Missense_R265P exm602511 7 5269291 [A/G] NM_015610,NM_016003,NM_001033519,NM_001033518,NM_001033520 WIPI2,WIPI2,WIPI2,WIPI2,WIPI2 EXON Missense_D392N,Missense_D374N,Missense_D374N,Missense_D392N,Missense_D333N exm2274218 7 5269361 [C/G] NM_015610,NM_016003,NM_001033519,NM_001033518,NM_001033520 WIPI2,WIPI2,WIPI2,WIPI2,WIPI2 EXON Missense_T415R,Missense_T397R,Silent,Silent,Silent exm602518 7 5269369 [A/G] NM_015610,NM_016003,NM_001033519,NM_001033518,NM_001033520 WIPI2,WIPI2,WIPI2,WIPI2,WIPI2 EXON Missense_A418T,Missense_A400T,Silent,Silent,Silent exm602526 7 5270575 [G/C] NM_015610,NM_016003,NM_001033519,NM_001033518,NM_001033520 WIPI2,WIPI2,WIPI2,WIPI2,WIPI2 EXON Missense_D454E,Missense_D436E,Missense_D425E,Missense_D443E,Missense_D384E exm602540 7 5327595 [A/G] NM_153247,NM_001040661 SLC29A4,SLC29A4 EXON Missense_V50I,Missense_V50I exm602546 7 5330390 [A/G] NM_153247,NM_001040661 SLC29A4,SLC29A4 EXON Missense_R66H,Missense_R66H exm602591 7 5336713 [T/C] NM_153247,NM_001040661 SLC29A4,SLC29A4 EXON Missense_R256C,Missense_R256C exm602803 7 5353449 [C/G] NM_001080495 TNRC18 EXON Missense_P2358R exm602804 7 5353450 [T/G] NM_001080495 TNRC18 EXON Missense_P2358T exm602866 7 5372626 [G/C] NM_001080495 TNRC18 EXON Missense_S1925W exm602868 7 5372636 [A/G] NM_001080495 TNRC18 EXON Missense_R1922C exm2245752 7 5391615 [T/C] NM_001080495 TNRC18 EXON Missense_S1769G exm602896 7 5391702 [C/G] NM_001080495 TNRC18 EXON Missense_E1740Q exm602902 7 5396715 [T/C] NM_001080495 TNRC18 EXON Missense_N1676D exm602907 7 5396866 [C/G] NM_001080495 TNRC18 EXON Missense_Q1625H exm602911 7 5399045 [A/G] NM_001080495 TNRC18 EXON Missense_S1606L exm602925 7 5401241 [T/C] NM_001080495 TNRC18 EXON Missense_G1549S exm602934 7 5401346 [A/G] NM_001080495 TNRC18 EXON Missense_R1514C exm602957 7 5402453 [A/G] NM_001080495 TNRC18 EXON Missense_A1408V exm2270575 7 5406479 [T/C] NM_001080495 TNRC18 Silent exm602958 7 5410013 [C/G] NM_001080495 TNRC18 EXON Missense_E1404D exm602982 7 5410501 [T/C] NM_001080495 TNRC18 EXON Missense_A1242T exm602986 7 5410521 [T/C] NM_001080495 TNRC18 EXON Missense_R1235Q exm602988 7 5410552 [T/C] NM_001080495 TNRC18 EXON Missense_G1225R exm602990 7 5410585 [T/C] NM_001080495 TNRC18 EXON Missense_A1214T exm602991 7 5410592 [C/G] NM_001080495 TNRC18 EXON Missense_Q1211H exm603003 7 5410697 [G/C] NM_001080495 TNRC18 EXON Missense_E1176D exm603005 7 5410732 [T/C] NM_001080495 TNRC18 EXON Missense_M1165V exm603035 7 5413923 [T/C] NM_001080495 TNRC18 EXON Missense_A998T exm603072 7 5417170 [A/G] NM_001080495 TNRC18 EXON Missense_P765S exm603094 7 5427582 [C/G] NM_001080495 TNRC18 EXON Missense_P625A exm603096 7 5427673 [C/G] NM_001080495 TNRC18 EXON Missense_S594R exm603100 7 5427720 [A/G] NM_001080495 TNRC18 EXON Missense_S579P exm603106 7 5427950 [A/G] NM_001080495 TNRC18 EXON Missense_P502L exm603148 7 5434107 [A/G] NM_001080495 TNRC18 EXON Missense_P103S exm2258395 7 5434195 [A/G] NM_001080495 TNRC18 EXON Synonymous_S73S exm603186 7 5521534 [T/C] NM_024963 FBXL18 EXON Missense_V677I exm603208 7 5530866 [A/G] NM_024963 FBXL18 EXON Missense_R666C exm603209 7 5530899 [T/C] NM_024963 FBXL18 EXON Missense_A655T exm603239 7 5540244 [A/C] NM_024963 FBXL18 EXON Missense_N552K exm603240 7 5540245 [T/C] NM_024963 FBXL18 EXON Missense_N552S exm2245758 7 5540663 [A/G] NM_024963 FBXL18 EXON Missense_R413C exm603259 7 5540957 [T/G] NM_024963 FBXL18 EXON Missense_N315H exm603292 7 5545119 [T/C] NM_024963 FBXL18 EXON Missense_R54H exm603298 7 5545215 [A/G] NM_024963 FBXL18 EXON Missense_M22T exm603300 7 5545249 [G/C] NM_024963 FBXL18 EXON Missense_D11H exm2258402 7 5633242 [T/C] NM_003088 FSCN1 EXON Synonymous_D225D exm603389 7 5633398 [A/G] NM_003088 FSCN1 EXON Synonymous_Q277Q exm603398 7 5643002 [T/C] NM_003088 FSCN1 EXON Missense_T316M exm603399 7 5643008 [T/C] NM_003088 FSCN1 EXON Missense_T318M exm603418 7 5643646 [A/G] NM_003088 FSCN1 EXON Missense_A422T exm603419 7 5643663 [T/C] NM_003088 FSCN1 Silent exm603421 7 5644942 [T/C] NM_003088 FSCN1 EXON Missense_A440V exm603425 7 5645022 [A/G] NM_003088 FSCN1 EXON Missense_G467R exm603438 7 5662517 [G/C] NM_207111,NM_207116 RNF216,RNF216 EXON Missense_G916R,Missense_G859R exm603441 7 5662544 [C/G] NM_207111,NM_207116 RNF216,RNF216 EXON Missense_L907V,Missense_L850V exm603444 7 5662573 [T/C] NM_207111,NM_207116 RNF216,RNF216 EXON Missense_N897S,Missense_N840S exm603445 7 5662577 [T/C] NM_207111,NM_207116 RNF216,RNF216 EXON Missense_V896I,Missense_V839I exm603476 7 5681007 [A/T] NM_207111,NM_207116 RNF216,RNF216 EXON Synonymous_I720I,Synonymous_I663I exm603489 7 5752373 [A/G] NM_207111,NM_207116 RNF216,RNF216 EXON Missense_A652V,Missense_A595V exm603500 7 5754755 [T/C] NM_207111,NM_207116 RNF216,RNF216 EXON Missense_A588T,Missense_A531T exm603503 7 5754800 [A/G] NM_207111,NM_207116 RNF216,RNF216 EXON Missense_R573C,Missense_R516C exm603507 7 5760692 [T/A] NM_207111,NM_207116 RNF216,RNF216 EXON Missense_Y539F,Missense_Y482F exm603508 7 5760734 [T/C] NM_207111,NM_207116 RNF216,RNF216 EXON Missense_R525Q,Missense_R468Q exm603539 7 5780677 [T/C] NM_207111,NM_207116 RNF216,RNF216 EXON Missense_N324S,Missense_N267S exm603546 7 5780794 [A/G] NM_207111,NM_207116 RNF216,RNF216 EXON Missense_S285L,Missense_S228L exm603548 7 5780818 [A/G] NM_207111,NM_207116 RNF216,RNF216 EXON Missense_P277L,Missense_P220L exm2152297 7 5780903 [A/C] NM_207111,NM_207116 RNF216,RNF216 EXON Missense_V249F,Missense_V192F exm2152300 7 5781010 [C/G] NM_207111,NM_207116 RNF216,RNF216 EXON Missense_G213A,Missense_G156A exm603564 7 5781280 [A/G] NM_207111,NM_207116 RNF216,RNF216 EXON Missense_A123V,Silent exm603569 7 5781354 [G/C] NM_207111,NM_207116 RNF216,RNF216 EXON Missense_K98N,Silent exm603571 7 5781385 [A/C] NM_207111,NM_207116 RNF216,RNF216 EXON Missense_L88R,Silent exm603577 7 5792529 [C/G] NM_207111,NM_207116 RNF216,RNF216 EXON Missense_A50G,Missense_A50G exm603582 7 5792601 [T/C] NM_207111,NM_207116 RNF216,RNF216 EXON Missense_N26S,Missense_N26S exm603601 7 5922125 [C/G] NM_001097622 OCM EXON Missense_D21E exm603612 7 5922229 [T/G] NM_001097622 OCM EXON Missense_S56I exm603613 7 5922230 [A/C] NM_001097622 OCM EXON Missense_S56R exm603712 7 5966121 [T/C] NM_001099697,NM_173565 RSPH10B2,RSPH10B EXON Missense_I831V,Missense_I831V exm603750 7 5983079 [T/C] NM_001099697,NM_173565 RSPH10B2,RSPH10B EXON Missense_R545Q,Missense_R545Q exm603751 7 5983080 [A/G] NM_001099697,NM_173565 RSPH10B2,RSPH10B EXON Missense_R545W,Missense_R545W exm2245780 7 6006521 [T/G] NM_001099697,NM_173565 RSPH10B2,RSPH10B EXON Missense_S76Y,Missense_S76Y exm603827 7 6026457 [A/T] NR_003085,NM_000535 PMS2,PMS2 EXON Silent,Nonsense_K647X exm603832 7 6026530 [T/C] NR_003085,NM_000535 PMS2,PMS2 EXON Silent,Missense_M622I exm603835 7 6026607 [T/A] NR_003085,NM_000535 PMS2,PMS2 EXON Silent,Missense_T597S exm603841 7 6026685 [T/G] NR_003085,NM_000535 PMS2,PMS2 EXON Silent,Missense_L571I exm603842 7 6026688 [T/C] NR_003085,NM_000535 PMS2,PMS2 EXON Silent,Missense_N570D exm603845 7 6026708 [A/C] NR_003085,NM_000535 PMS2,PMS2 EXON Silent,Missense_R563L exm603879 7 6027153 [T/C] NR_003085,NM_000535 PMS2,PMS2 EXON Silent,Missense_V415M exm2245783 7 6029495 [T/C] NR_003085,NM_000535 PMS2,PMS2 EXON Silent,Missense_I360M exm603891 7 6029571 [T/C] NR_003085,NM_000535 PMS2,PMS2 EXON Silent,Missense_N335S exm603894 7 6031639 [T/C] NR_003085,NM_000535 PMS2,PMS2 EXON Silent,Missense_Y318C exm603896 7 6031648 [T/C] NR_003085,NM_000535 PMS2,PMS2 EXON Silent,Missense_R315Q exm603898 7 6031656 [T/C] NR_003085,NM_000535 PMS2,PMS2 EXON Silent,Missense_M312I exm603902 7 6035211 [T/C] NR_003085,NM_000535 PMS2,PMS2 EXON Silent,Missense_D286G exm603904 7 6035238 [T/G] NR_003085,NM_000535 PMS2,PMS2 EXON Silent,Missense_T277K exm603927 7 6042238 [A/G] NR_003085,NM_000535 PMS2,PMS2 EXON Silent,Missense_S128L exm603928 7 6042242 [T/C] NR_003085,NM_000535 PMS2,PMS2 EXON Silent,Missense_A127T exm603942 7 6045600 [G/C] NR_003085,NM_000535 PMS2,PMS2 EXON Silent,Missense_G29A exm603959 7 6049010 [G/C] NM_006303 AIMP2 EXON Missense_V6L exm603999 7 6057563 [T/C] NM_006303 AIMP2 EXON Missense_T154M exm604004 7 6057598 [A/C] NM_006303 AIMP2 EXON Missense_L166I exm604009 7 6057634 [G/C] NM_006303 AIMP2 EXON Missense_R178G exm604024 7 6063036 [A/G] NM_006303,NM_014413,NM_001134335 AIMP2,EIF2AK1,EIF2AK1 EXON Missense_N226S,Silent,Silent exm604030 7 6063185 [A/G] NM_006303,NM_014413,NM_001134335 AIMP2,EIF2AK1,EIF2AK1 EXON Missense_V276I,Silent,Silent exm2152465 7 6064327 [T/C] NM_014413,NM_001134335 EIF2AK1,EIF2AK1 EXON Missense_G624R,Missense_G623R exm604047 7 6066379 [T/G] NM_014413,NM_001134335 EIF2AK1,EIF2AK1 EXON Missense_L582I,Missense_L581I exm604048 7 6066396 [T/C] NM_014413,NM_001134335 EIF2AK1,EIF2AK1 EXON Missense_Q576R,Missense_Q575R exm604050 7 6066450 [T/C] NM_014413,NM_001134335 EIF2AK1,EIF2AK1 EXON Missense_K558R,Missense_K557R exm604057 7 6066546 [A/G] NM_014413,NM_001134335 EIF2AK1,EIF2AK1 EXON Missense_P526L,Missense_P525L exm604096 7 6078215 [A/G] NM_014413,NM_001134335 EIF2AK1,EIF2AK1 EXON Missense_R403W,Missense_R402W exm604097 7 6078221 [A/G] NM_014413,NM_001134335 EIF2AK1,EIF2AK1 EXON Missense_R401W,Missense_R400W exm604098 7 6078248 [A/G] NM_014413,NM_001134335 EIF2AK1,EIF2AK1 EXON Missense_W392R,Missense_W391R exm604102 7 6080540 [A/C] NM_014413,NM_001134335 EIF2AK1,EIF2AK1 EXON Missense_F368V,Missense_F367V exm604103 7 6080602 [T/C] NM_014413,NM_001134335 EIF2AK1,EIF2AK1 EXON Missense_R347H,Missense_R346H exm604106 7 6080630 [T/C] NM_014413,NM_001134335 EIF2AK1,EIF2AK1 EXON Missense_I338V,Missense_I337V exm604111 7 6080686 [A/T] NM_014413,NM_001134335 EIF2AK1,EIF2AK1 EXON Missense_L319H,Missense_L318H exm604116 7 6080771 [A/G] NM_014413,NM_001134335 EIF2AK1,EIF2AK1 EXON Missense_R291C,Missense_R290C exm604124 7 6084208 [T/C] NM_014413,NM_001134335 EIF2AK1,EIF2AK1 EXON Missense_V239M,Missense_V239M exm604138 7 6088451 [T/C] NM_014413,NM_001134335 EIF2AK1,EIF2AK1 EXON Missense_I146V,Missense_I146V exm604139 7 6088472 [A/G] NM_014413,NM_001134335 EIF2AK1,EIF2AK1 EXON Missense_P139S,Missense_P139S exm604141 7 6089553 [T/C] NM_014413,NM_001134335 EIF2AK1,EIF2AK1 EXON Missense_R134K,Missense_R134K exm604142 7 6089584 [T/C] NM_014413,NM_001134335 EIF2AK1,EIF2AK1 EXON Missense_I124V,Missense_I124V exm604145 7 6089655 [T/G] NM_014413,NM_001134335 EIF2AK1,EIF2AK1 EXON Missense_K100T,Missense_K100T exm604149 7 6094177 [A/G] NM_014413,NM_001134335 EIF2AK1,EIF2AK1 EXON Synonymous_L93L,Synonymous_L93L exm604155 7 6094284 [A/G] NM_014413,NM_001134335 EIF2AK1,EIF2AK1 EXON Missense_P57L,Missense_P57L exm604173 7 6154984 [A/G] NM_032172 USP42 EXON Missense_K91R exm604180 7 6175526 [T/C] NM_032172 USP42 EXON Missense_A166V exm604183 7 6175571 [A/G] NM_032172 USP42 EXON Missense_N181S exm604217 7 6187461 [A/G] NM_032172 USP42 EXON Missense_V442I exm604218 7 6187471 [A/G] NM_032172 USP42 EXON Missense_K445R exm604221 7 6189230 [A/G] NM_032172 USP42 EXON Missense_N468S exm604224 7 6189283 [A/G] NM_032172 USP42 EXON Missense_G486R exm604225 7 6189373 [T/C] NM_032172 USP42 EXON Missense_H516Y exm604231 7 6189472 [C/G] NM_032172 USP42 EXON Missense_P549A exm604258 7 6189853 [T/C] NM_032172 USP42 EXON Missense_P676S exm2275934 7 6189919 [A/G] NM_032172 USP42 EXON Missense_G698S exm2152539 7 6189919 [C/G] NM_032172 USP42 EXON Missense_G698R exm604262 7 6190119 [T/G] NM_032172 USP42 EXON Missense_G728V exm604264 7 6190125 [T/C] NM_032172 USP42 EXON Missense_T730M exm604281 7 6193628 [A/C] NM_032172 USP42 EXON Missense_P815T exm2152551 7 6193698 [T/C] NM_032172 USP42 EXON Missense_M838T exm604284 7 6193722 [T/C] NM_032172 USP42 EXON Missense_S846L exm604285 7 6193736 [T/G] NM_032172 USP42 EXON Missense_A851S exm604294 7 6193823 [C/G] NM_032172 USP42 EXON Missense_A880P exm604316 7 6194034 [A/G] NM_032172 USP42 EXON Missense_R950Q exm604327 7 6194213 [A/G] NM_032172 USP42 EXON Missense_E1010K exm2258412 7 6194266 [G/C] NM_032172 USP42 EXON Synonymous_G1027G exm604339 7 6194379 [C/G] NM_032172 USP42 EXON Missense_R1065T exm604354 7 6194641 [A/C] NM_032172 USP42 EXON Missense_H1152Q exm604358 7 6194711 [A/G] NM_032172 USP42 EXON Missense_K1176E exm2152562 7 6196411 [T/C] NM_032172 USP42 EXON Missense_A1223V exm604365 7 6196414 [T/C] NM_032172 USP42 EXON Missense_A1224V exm604372 7 6196557 [A/G] NM_032172 USP42 EXON Missense_R1272G exm604375 7 6196638 [T/C] NM_032172 USP42 EXON Missense_R1299W exm604393 7 6205176 [A/G] NM_004227 CYTH3 EXON Synonymous_P324P exm604399 7 6205440 [T/C] NM_004227 CYTH3 EXON Synonymous_G275G exm604426 7 6226685 [T/C] NM_004227 CYTH3 EXON Missense_K82R exm604447 7 6370025 [A/T] NM_001037163 FAM220A EXON Missense_N254I exm604458 7 6370167 [A/C] NM_001037163 FAM220A EXON Nonsense_E207X exm604460 7 6370194 [T/C] NM_001037163 FAM220A EXON Missense_V198M exm604479 7 6370439 [T/C] NM_001037163 FAM220A EXON Missense_R116Q exm604496 7 6370734 [T/C] NM_001037163 FAM220A EXON Missense_A18T exm604512 7 6431672 [A/G] NM_018890,NM_006908 RAC1,RAC1 EXON Synonymous_T75T,Synonymous_T75T exm604515 7 6438326 [T/C] NM_018890,NM_006908 RAC1,RAC1 EXON Missense_R87W,Silent exm604548 7 6449476 [T/C] NM_001142936,NM_139179 DAGLB,DAGLB EXON Missense_V542M,Missense_V671M exm604550 7 6449496 [T/C] NM_001142936,NM_139179 DAGLB,DAGLB EXON Missense_Q535R,Missense_Q664R exm604551 7 6449512 [T/C] NM_001142936,NM_139179 DAGLB,DAGLB EXON Missense_V530I,Missense_V659I exm604554 7 6449521 [T/C] NM_001142936,NM_139179 DAGLB,DAGLB EXON Missense_A527T,Missense_A656T exm2152819 7 6449550 [T/C] NM_001142936,NM_139179 DAGLB,DAGLB EXON Missense_R517Q,Missense_R646Q exm604558 7 6449551 [A/G] NM_001142936,NM_139179 DAGLB,DAGLB EXON Missense_R517W,Missense_R646W exm604559 7 6449560 [T/C] NM_001142936,NM_139179 DAGLB,DAGLB EXON Missense_I514V,Missense_I643V exm604586 7 6449930 [T/C] NM_001142936,NM_139179 DAGLB,DAGLB EXON Missense_D422N,Missense_D551N exm604588 7 6449936 [G/C] NM_001142936,NM_139179 DAGLB,DAGLB EXON Missense_G420R,Missense_G549R exm604591 7 6449947 [T/G] NM_001142936,NM_139179 DAGLB,DAGLB EXON Missense_T416K,Missense_T545K exm604600 7 6452461 [A/G] NM_001142936,NM_139179 DAGLB,DAGLB EXON Missense_A388V,Missense_A517V exm604602 7 6452470 [T/C] NM_001142936,NM_139179 DAGLB,DAGLB EXON Missense_R385Q,Missense_R514Q exm2152862 7 6472484 [A/G] NM_001142936,NM_139179 DAGLB,DAGLB EXON Missense_P176S,Missense_A262V exm604665 7 6472528 [T/G] NM_001142936,NM_139179 DAGLB,DAGLB EXON Missense_T161K,Missense_D247E exm604668 7 6472558 [T/C] NM_001142936,NM_139179 DAGLB,DAGLB EXON Missense_R151Q,Synonymous_A237A exm604669 7 6472559 [A/G] NM_001142936,NM_139179 DAGLB,DAGLB EXON Missense_R151W,Missense_A237V exm604671 7 6472577 [A/G] NM_001142936,NM_139179 DAGLB,DAGLB EXON Missense_C145R,Missense_V231A exm604678 7 6474403 [A/G] NM_001142936,NM_139179 DAGLB,DAGLB EXON Silent,Missense_T223I exm604679 7 6474437 [C/G] NM_001142936,NM_139179 DAGLB,DAGLB EXON Silent,Missense_V212L exm604682 7 6474461 [T/C] NM_001142936,NM_139179 DAGLB,DAGLB EXON Silent,Missense_I204V exm604706 7 6476104 [A/G] NM_001142936,NM_139179 DAGLB,DAGLB EXON Missense_A103V,Missense_A103V exm604708 7 6476161 [G/C] NM_001142936,NM_139179 DAGLB,DAGLB EXON Missense_T84R,Missense_T84R exm2152879 7 6485586 [T/C] NM_001142936,NM_139179 DAGLB,DAGLB EXON Missense_R82K,Missense_R82K exm604712 7 6485619 [T/C] NM_001142936,NM_139179 DAGLB,DAGLB EXON Missense_C71Y,Missense_C71Y exm604719 7 6502629 [T/C] NM_001100603,NM_006854 KDELR2,KDELR2 EXON Missense_A177T,Silent exm604723 7 6502674 [A/G] NM_001100603,NM_006854 KDELR2,KDELR2 EXON Missense_L162F,Silent exm604725 7 6502713 [A/G] NM_001100603,NM_006854 KDELR2,KDELR2 EXON Nonsense_Q149X,Silent exm604730 7 6502775 [T/C] NM_001100603,NM_006854 KDELR2,KDELR2 EXON Missense_H128R,Synonymous_A212A exm604736 7 6505869 [T/G] NM_001100603,NM_006854 KDELR2,KDELR2 EXON Silent,Missense_T146N exm604744 7 6509235 [A/G] NM_001100603,NM_006854 KDELR2,KDELR2 EXON Missense_P115S,Missense_P115S exm2152927 7 6509297 [T/C] NM_001100603,NM_006854 KDELR2,KDELR2 EXON Missense_R94Q,Missense_R94Q exm604788 7 6547902 [A/G] NM_001145118 GRID2IP EXON Missense_P753L exm604810 7 6550540 [A/G] NM_001145118 GRID2IP EXON Synonymous_C518C exm604819 7 6554047 [T/C] NM_001145118 GRID2IP EXON Missense_Q461R exm604820 7 6554126 [A/C] NM_001145118 GRID2IP EXON Missense_V435L exm604823 7 6561105 [T/C] NM_001145118 GRID2IP EXON Missense_M347V exm604831 7 6579383 [A/G] NM_001145118 GRID2IP EXON Nonsense_R184X exm604843 7 6591009 [T/C] NM_001145118 GRID2IP EXON Missense_R20Q exm604846 7 6591051 [A/G] NM_001145118 GRID2IP EXON Missense_T6M exm604851 7 6621269 [A/C] NM_001134389,NM_001134388,NM_001134387,NM_018106 ZDHHC4,ZDHHC4,ZDHHC4,ZDHHC4 EXON Missense_Q50P,Missense_Q50P,Missense_Q50P,Missense_Q50P exm604852 7 6621277 [A/G] NM_001134389,NM_001134388,NM_001134387,NM_018106 ZDHHC4,ZDHHC4,ZDHHC4,ZDHHC4 EXON Missense_V53M,Missense_V53M,Missense_V53M,Missense_V53M exm604857 7 6621814 [T/G] NM_001134389,NM_001134388,NM_001134387,NM_018106 ZDHHC4,ZDHHC4,ZDHHC4,ZDHHC4 EXON Missense_L101R,Missense_L101R,Missense_L101R,Missense_L101R exm604867 7 6623017 [T/C] NM_001134389,NM_001134388,NM_001134387,NM_018106 ZDHHC4,ZDHHC4,ZDHHC4,ZDHHC4 EXON Missense_C151R,Missense_C151R,Missense_C151R,Missense_C151R exm604868 7 6623032 [T/G] NM_001134389,NM_001134388,NM_001134387,NM_018106 ZDHHC4,ZDHHC4,ZDHHC4,ZDHHC4 EXON Missense_L156V,Missense_L156V,Missense_L156V,Missense_L156V exm2153082 7 6624649 [A/G] NM_001134389,NM_001134388,NM_001134387,NM_018106 ZDHHC4,ZDHHC4,ZDHHC4,ZDHHC4 EXON Missense_V167M,Missense_V167M,Missense_V167M,Missense_V167M exm604873 7 6624660 [G/C] NM_001134389,NM_001134388,NM_001134387,NM_018106 ZDHHC4,ZDHHC4,ZDHHC4,ZDHHC4 EXON Missense_W170C,Missense_W170C,Missense_W170C,Missense_W170C exm604874 7 6624671 [A/G] NM_001134389,NM_001134388,NM_001134387,NM_018106 ZDHHC4,ZDHHC4,ZDHHC4,ZDHHC4 EXON Missense_R174H,Missense_R174H,Missense_R174H,Missense_R174H exm604880 7 6624755 [T/C] NM_001134389,NM_001134388,NM_001134387,NM_018106 ZDHHC4,ZDHHC4,ZDHHC4,ZDHHC4 EXON Missense_T202M,Missense_T202M,Missense_T202M,Missense_T202M exm604897 7 6628359 [A/C] NM_001134389,NM_001134388,NM_001134387,NM_018106 ZDHHC4,ZDHHC4,ZDHHC4,ZDHHC4 EXON Missense_Q285K,Missense_Q285K,Missense_Q285K,Missense_Q285K exm604900 7 6628399 [T/G] NM_001134389,NM_001134388,NM_001134387,NM_018106 ZDHHC4,ZDHHC4,ZDHHC4,ZDHHC4 EXON Missense_C298F,Missense_C298F,Missense_C298F,Missense_C298F exm604907 7 6628483 [A/G] NM_001134389,NM_001134388,NM_001134387,NM_018106 ZDHHC4,ZDHHC4,ZDHHC4,ZDHHC4 EXON Missense_N326S,Missense_N326S,Missense_N326S,Missense_N326S exm604920 7 6631283 [A/G] NM_024067 C7orf26 EXON Missense_N67D exm604923 7 6631341 [T/C] NM_024067 C7orf26 EXON Missense_T86I exm604928 7 6631460 [C/G] NM_024067 C7orf26 EXON Missense_R126G exm604934 7 6634070 [T/C] NM_024067 C7orf26 EXON Missense_T140M exm2153126 7 6634148 [T/C] NM_024067 C7orf26 EXON Missense_T166M exm604943 7 6634211 [T/C] NM_024067 C7orf26 EXON Missense_A187V exm604945 7 6639612 [T/C] NM_024067 C7orf26 EXON Missense_R245C exm604991 7 6647725 [T/C] NM_024067 C7orf26 EXON Missense_A428V exm604995 7 6656830 [A/G] NM_017560 ZNF853 EXON Missense_G8R exm604998 7 6656897 [A/G] NM_017560 ZNF853 EXON Missense_Q30R exm605015 7 6661186 [T/G] NM_017560 ZNF853 EXON Missense_L188F exm605047 7 6730487 [A/G] NM_016265,NM_006956 ZNF12,ZNF12 EXON Missense_L696F,Missense_L658F exm605059 7 6731045 [T/C] NM_016265,NM_006956 ZNF12,ZNF12 EXON Missense_I510V,Missense_I472V exm605073 7 6731672 [G/C] NM_016265,NM_006956 ZNF12,ZNF12 EXON Missense_Q301E,Missense_Q263E exm605075 7 6731803 [A/G] NM_016265,NM_006956 ZNF12,ZNF12 EXON Missense_T257I,Missense_T219I exm605078 7 6731866 [A/G] NM_016265,NM_006956 ZNF12,ZNF12 EXON Missense_M236T,Missense_M198T exm605081 7 6731941 [T/C] NM_016265,NM_006956 ZNF12,ZNF12 EXON Missense_R211H,Missense_R173H exm605095 7 6732221 [T/C] NM_016265,NM_006956 ZNF12,ZNF12 EXON Missense_G118S,Silent exm605100 7 6732315 [A/C] NM_016265,NM_006956 ZNF12,ZNF12 EXON Missense_D86E,Missense_D86E exm-rs7798471 7 6744957 [T/C] NM_016265,NM_006956 ZNF12,ZNF12 Silent,Silent exm2270724 7 6747267 [T/C] exm2245852 7 6820508 [T/G] NM_173565,NM_001099697 RSPH10B,RSPH10B2 EXON Missense_C533F,Missense_C533F exm605223 7 6859544 [T/C] NM_198097 CCZ1B EXON Missense_C184Y exm2266368 7 7171465 [A/G] exm-rs4724951 7 7187522 [A/G] exm-rs10259085 7 7268431 [T/C] NM_020156 C1GALT1 Silent exm605248 7 7274054 [T/G] NM_020156 C1GALT1 EXON Missense_V35G exm605268 7 7278447 [T/A] NM_020156 C1GALT1 EXON Missense_I261N exm605270 7 7278506 [T/C] NM_020156 C1GALT1 EXON Missense_P281S exm605282 7 7398301 [A/C] NM_001037763 COL28A1 EXON Missense_S1114I exm2154233 7 7398347 [A/G] NM_001037763 COL28A1 EXON Nonsense_R1099X exm605293 7 7400029 [T/C] NM_001037763 COL28A1 EXON Missense_G1066E exm605302 7 7410391 [A/C] NM_001037763 COL28A1 EXON Missense_S1011A exm605303 7 7410400 [G/C] NM_001037763 COL28A1 EXON Missense_L1008V exm2154281 7 7412716 [T/C] NM_001037763 COL28A1 EXON Missense_N941D exm605314 7 7412808 [T/C] NM_001037763 COL28A1 EXON Missense_R910H exm605315 7 7412829 [T/G] NM_001037763 COL28A1 EXON Missense_T903N exm605317 7 7412892 [A/T] NM_001037763 COL28A1 EXON Missense_Q882L exm605325 7 7413057 [T/C] NM_001037763 COL28A1 EXON Missense_R827Q exm605336 7 7413177 [T/C] NM_001037763 COL28A1 EXON Missense_G787D exm605339 7 7420292 [G/C] NM_001037763 COL28A1 EXON Missense_T774R exm605340 7 7420320 [A/G] NM_001037763 COL28A1 EXON Nonsense_Q765X exm605342 7 7420436 [A/C] NM_001037763 COL28A1 EXON Nonsense_E755X exm605346 7 7420477 [T/C] NM_001037763 COL28A1 EXON Missense_R741Q exm605350 7 7421206 [T/C] NM_001037763 COL28A1 EXON Missense_G725D exm605360 7 7459554 [T/G] NM_001037763 COL28A1 EXON Missense_P677T exm605368 7 7472264 [T/G] NM_001037763 COL28A1 EXON Missense_P643H exm605371 7 7476036 [T/C] NM_001037763 COL28A1 EXON Missense_R617Q exm605381 7 7483242 [A/G] NM_001037763 COL28A1 EXON Missense_P542S exm605382 7 7483244 [A/G] NM_001037763 COL28A1 EXON Missense_P541L exm605383 7 7483268 [A/G] NM_001037763 COL28A1 EXON Missense_P533L exm605387 7 7484086 [A/G] NM_001037763 COL28A1 EXON Missense_P515L exm605388 7 7484104 [A/G] NM_001037763 COL28A1 EXON Missense_I509T exm605389 7 7484105 [T/C] NM_001037763 COL28A1 EXON Missense_I509V exm605393 7 7491966 [T/C] NM_001037763 COL28A1 EXON Missense_G498E exm605396 7 7491996 [C/G] NM_001037763 COL28A1 EXON Missense_P488R exm605399 7 7493075 [A/G] NM_001037763 COL28A1 EXON Missense_S479F exm605400 7 7493097 [C/G] NM_001037763 COL28A1 EXON Missense_A472P exm605401 7 7493114 [C/G] NM_001037763 COL28A1 EXON Missense_P466R exm605405 7 7495692 [A/C] NM_001037763 COL28A1 EXON Missense_G452W exm605408 7 7495735 [T/C] NM_001037763 COL28A1 EXON Missense_I437M exm605409 7 7514235 [C/G] NM_001037763 COL28A1 EXON Missense_E433D exm605410 7 7514293 [T/C] NM_001037763 COL28A1 EXON Missense_K414R exm605417 7 7516808 [G/C] NM_001037763 COL28A1 EXON Missense_P390A exm605422 7 7529037 [G/C] NM_001037763 COL28A1 EXON Missense_G383R exm605426 7 7530225 [A/C] NM_001037763 COL28A1 EXON Missense_G360V exm605429 7 7545691 [G/C] NM_001037763 COL28A1 EXON Missense_T327S exm605436 7 7550759 [A/C] NM_001037763 COL28A1 EXON Missense_R297L exm605445 7 7557462 [T/C] NM_001037763 COL28A1 EXON Missense_A274T exm2258455 7 7557463 [A/G] NM_001037763 COL28A1 EXON Synonymous_N273N exm605447 7 7557470 [T/A] NM_001037763 COL28A1 Silent exm605449 7 7559694 [A/G] NM_001037763 COL28A1 EXON Missense_P271L exm605455 7 7561580 [T/C] NM_001037763 COL28A1 EXON Missense_I239V exm605460 7 7571061 [T/C] NM_001037763 COL28A1 EXON Missense_R200H exm605464 7 7571094 [C/G] NM_001037763 COL28A1 EXON Missense_A189G exm605466 7 7571115 [T/C] NM_001037763 COL28A1 EXON Missense_G182E exm605468 7 7571197 [T/C] NM_001037763 COL28A1 EXON Missense_V155M exm605472 7 7571257 [A/G] NM_001037763 COL28A1 EXON Missense_Y135H exm605474 7 7571355 [A/G] NM_001037763 COL28A1 EXON Missense_V102A exm605475 7 7571413 [A/G] NM_001037763 COL28A1 EXON Missense_P83S exm605483 7 7572385 [T/C] NM_001037763 COL28A1 EXON Missense_Q41R exm605490 7 7572488 [T/C] NM_001037763 COL28A1 EXON Missense_V7I exm605513 7 7613118 [A/G] NM_019005 MIOS EXON Missense_M338V exm605520 7 7613221 [A/G] NM_019005 MIOS EXON Missense_R372H exm605539 7 7622962 [A/G] NM_019005 MIOS EXON Missense_R536Q exm2154981 7 7622988 [A/G] NM_019005 MIOS EXON Missense_A545T exm605542 7 7625287 [A/G] NM_019005 MIOS EXON Missense_V557I exm605553 7 7629048 [A/G] NM_019005 MIOS EXON Missense_I633V exm605554 7 7629079 [A/C] NM_019005 MIOS EXON Missense_A643D exm605560 7 7634674 [T/G] NM_019005 MIOS EXON Missense_L703V exm605587 7 7678701 [T/G] NM_002947 RPA3 EXON Synonymous_P58P exm2264231 7 7873385 [A/C] NR_034084 LOC729852 Silent exm-rs7780564 7 7883323 [A/C] NR_034084 LOC729852 Silent exm605609 7 8043538 [T/C] NM_138426 GLCCI1 EXON Missense_A153V exm605634 7 8110650 [T/C] NM_138426 GLCCI1 EXON Missense_R356C exm605638 7 8110731 [A/G] NM_138426 GLCCI1 EXON Missense_T383A exm605650 7 8125989 [T/G] NM_138426 GLCCI1 EXON Missense_L489V exm605672 7 8167569 [T/C] NM_022307,NM_001276478,NM_004968,NM_001136020 ICA1,ICA1,ICA1,ICA1 EXON Missense_G422S,Missense_G421S,Missense_G422S,Missense_G422S exm605675 7 8167632 [T/C] NM_022307,NM_001276478,NM_004968,NM_001136020 ICA1,ICA1,ICA1,ICA1 EXON Missense_G401S,Missense_G400S,Missense_G401S,Missense_G401S exm605683 7 8167764 [T/C] NM_022307,NM_001276478,NM_004968,NM_001136020 ICA1,ICA1,ICA1,ICA1 EXON Missense_G357R,Missense_G356R,Missense_G357R,Missense_G357R exm605685 7 8178473 [G/C] NM_022307,NM_001276478,NM_004968,NM_001136020 ICA1,ICA1,ICA1,ICA1 EXON Missense_G353R,Missense_G352R,Missense_G353R,Missense_G353R exm605686 7 8178505 [A/G] NM_022307,NM_001276478,NM_004968,NM_001136020 ICA1,ICA1,ICA1,ICA1 EXON Missense_I342T,Missense_I341T,Missense_I342T,Missense_I342T exm605691 7 8178679 [T/A] NM_022307,NM_001276478,NM_004968,NM_001136020 ICA1,ICA1,ICA1,ICA1 Silent,Silent,Silent,Silent exm605693 7 8183507 [T/G] NM_022307,NM_001276478,NM_004968,NM_001136020 ICA1,ICA1,ICA1,ICA1 EXON Missense_S300R,Missense_S299R,Missense_S300R,Missense_S300R exm605697 7 8183532 [A/G] NM_022307,NM_001276478,NM_004968,NM_001136020 ICA1,ICA1,ICA1,ICA1 EXON Missense_T292I,Missense_T291I,Missense_T292I,Missense_T292I exm605698 7 8183593 [T/C] NM_022307,NM_001276478,NM_004968,NM_001136020 ICA1,ICA1,ICA1,ICA1 EXON Missense_D272N,Missense_D271N,Missense_D272N,Missense_D272N exm605726 7 8257988 [T/C] NM_022307,NM_001276478,NM_004968,NM_001136020 ICA1,ICA1,ICA1,ICA1 EXON Missense_V176M,Missense_V175M,Missense_V176M,Missense_V176M exm2262363 7 8261730 [A/G] NM_022307,NM_001276478,NM_004968,NM_001136020 ICA1,ICA1,ICA1,ICA1 Silent,Silent,Silent,Silent exm605738 7 8268278 [A/C] NM_022307,NM_001276478,NM_004968,NM_001136020 ICA1,ICA1,ICA1,ICA1 EXON Missense_C70F,Missense_C69F,Missense_C70F,Missense_C70F exm2258484 7 8308993 [A/G] exm-rs2349775 7 8718080 [A/G] NM_152745 NXPH1 Silent exm2266370 7 8797321 [A/G] exm-rs6463843 7 8838717 [T/G] exm-rs17157663 7 8998976 [A/G] exm2270577 7 9122405 [T/C] exm2264256 7 9163327 [A/C] exm-rs1285407 7 9266388 [T/C] exm-rs9918508 7 9539279 [T/C] exm2266371 7 9770307 [A/G] exm-rs7778619 7 10149976 [G/C] exm2266504 7 10161358 [A/G] exm2266372 7 10276673 [A/G] exm2266373 7 10852392 [A/G] exm2270726 7 10975011 [T/C] NM_002489 NDUFA4 Silent exm605788 7 10977730 [T/C] NM_002489 NDUFA4 EXON Missense_N59S exm605790 7 10977771 [G/C] NM_002489 NDUFA4 EXON Missense_W45C exm605814 7 11022095 [T/C] NR_033436,NM_014660,NR_033435 PHF14,PHF14,PHF14 EXON Silent,Missense_X221R,Silent exm605818 7 11022230 [A/G] NR_033436,NM_014660,NR_033435 PHF14,PHF14,PHF14 EXON Silent,Missense_R266G,Silent exm605830 7 11022455 [G/C] NR_033436,NM_014660,NR_033435 PHF14,PHF14,PHF14 EXON Silent,Missense_H341D,Silent exm605835 7 11022560 [C/G] NR_033436,NM_014660,NR_033435 PHF14,PHF14,PHF14 EXON Silent,Missense_L376V,Silent exm2258061 7 11022564 [A/G] NR_033436,NM_014660,NR_033435 PHF14,PHF14,PHF14 EXON Silent,Missense_R377H,Silent exm605893 7 11091357 [A/G] NR_033436,NM_014660,NR_033435 PHF14,PHF14,PHF14 EXON Silent,Synonymous_L961L,Silent exm605894 7 11091385 [A/G] NR_033436,NM_014660,NR_033435 PHF14,PHF14,PHF14 EXON Silent,Missense_R971G,Silent exm605895 7 11091394 [T/C] NR_033436,NM_014660,NR_033435 PHF14,PHF14,PHF14 EXON Silent,Nonsense_R974X,Silent exm-rs2714410 7 11272355 [A/G] exm2258069 7 11349162 [T/C] exm605920 7 11418786 [A/T] NM_015204 THSD7A EXON Missense_V1571E exm605927 7 11419259 [T/C] NM_015204 THSD7A EXON Missense_E1530K exm605945 7 11446574 [T/C] NM_015204 THSD7A EXON Missense_R1342Q exm605950 7 11446658 [A/G] NM_015204 THSD7A EXON Missense_V1314A exm605958 7 11450835 [A/G] NM_015204 THSD7A EXON Missense_A1266V exm2275936 7 11457127 [T/G] NM_015204 THSD7A EXON Missense_P1163T exm605993 7 11486901 [T/C] NM_015204 THSD7A EXON Missense_N919S exm606005 7 11500346 [T/C] NM_015204 THSD7A EXON Missense_V850M exm606007 7 11500372 [T/C] NM_015204 THSD7A EXON Missense_R841H exm2258075 7 11501652 [A/C] NM_015204 THSD7A EXON Synonymous_A829A exm606015 7 11501732 [T/C] NM_015204 THSD7A EXON Missense_I803V exm606018 7 11509538 [T/C] NM_015204 THSD7A EXON Missense_D779G exm606020 7 11509561 [C/G] NM_015204 THSD7A EXON Missense_D771E exm606029 7 11514105 [T/G] NM_015204 THSD7A EXON Missense_P703H exm606035 7 11521507 [A/G] NM_015204 THSD7A EXON Missense_T642M exm-rs10242744 7 11579793 [A/G] NM_015204 THSD7A Silent exm2137024 7 11581103 [T/C] NM_015204 THSD7A EXON Missense_G589R exm606048 7 11581121 [T/C] NM_015204 THSD7A EXON Missense_N583D exm606053 7 11581176 [T/G] NM_015204 THSD7A EXON Missense_E564D exm606061 7 11582666 [A/G] NM_015204 THSD7A EXON Missense_T511I exm606063 7 11582681 [T/C] NM_015204 THSD7A EXON Missense_H506R exm606065 7 11582733 [T/C] NM_015204 THSD7A EXON Missense_M489V exm606067 7 11630141 [T/C] NM_015204 THSD7A EXON Missense_V467M exm606074 7 11630258 [T/C] NM_015204 THSD7A EXON Missense_R428G exm606076 7 11632921 [A/G] NM_015204 THSD7A EXON Missense_P411S exm606077 7 11632962 [A/G] NM_015204 THSD7A EXON Missense_I397T exm606089 7 11633116 [T/C] NM_015204 THSD7A EXON Missense_E346K exm606092 7 11675782 [T/C] NM_015204 THSD7A EXON Missense_K333E exm606103 7 11675904 [T/C] NM_015204 THSD7A EXON Missense_K292R exm606109 7 11675984 [T/C] NM_015204 THSD7A EXON Missense_M265I exm606112 7 11676065 [G/C] NM_015204 THSD7A EXON Missense_F238L exm606125 7 11676282 [T/C] NM_015204 THSD7A EXON Missense_D166G exm606127 7 11676298 [T/C] NM_015204 THSD7A EXON Missense_I161V exm606132 7 11676390 [T/C] NM_015204 THSD7A EXON Missense_N130S exm2266374 7 11704583 [A/G] NM_015204 THSD7A Silent exm2266505 7 11779718 [A/G] NM_015204 THSD7A Silent exm606145 7 11871406 [C/G] NM_015204 THSD7A EXON Missense_P56R exm606146 7 11871419 [T/C] NM_015204 THSD7A EXON Missense_E52K exm606156 7 12254552 [T/A] NM_018374,NM_001134232 TMEM106B,TMEM106B EXON Missense_D39V,Missense_D39V exm606174 7 12263971 [A/G] NM_018374,NM_001134232 TMEM106B,TMEM106B EXON Missense_S134N,Missense_S134N exm606184 7 12269417 [C/G] NM_018374,NM_001134232 TMEM106B,TMEM106B EXON Missense_T185S,Missense_T185S exm2258099 7 12270059 [T/C] NM_018374,NM_001134232 TMEM106B,TMEM106B EXON Synonymous_Y209Y,Synonymous_Y209Y exm2270727 7 12334083 [T/C] exm606214 7 12373125 [T/C] NM_001135924 VWDE EXON Missense_E1575G exm2244934 7 12373131 [T/C] NM_001135924 VWDE EXON Missense_R1573H exm606216 7 12373139 [A/C] NM_001135924 VWDE EXON Missense_C1570W exm606218 7 12375766 [T/C] NM_001135924 VWDE Silent exm606221 7 12376613 [T/C] NM_001135924 VWDE Silent exm2274220 7 12376689 [T/C] NM_001135924 VWDE EXON Missense_M1495V exm606227 7 12376842 [T/C] NM_001135924 VWDE EXON Missense_V1475I exm-IND7-12348246 7 12381722 [D/I] NM_001135924 VWDE EXON exm606233 7 12381736 [G/C] NM_001135924 VWDE EXON Missense_P1407A exm606246 7 12384038 [T/C] NM_001135924 VWDE EXON Missense_K1315R exm606249 7 12384089 [A/C] NM_001135924 VWDE EXON Missense_C1298F exm606251 7 12391319 [T/G] NM_001135924 VWDE EXON Missense_Q1256K exm606253 7 12395759 [A/C] NM_001135924 VWDE EXON Missense_C1241W exm606260 7 12395928 [T/C] NM_001135924 VWDE EXON Missense_N1185S exm606262 7 12395956 [A/C] NM_001135924 VWDE EXON Missense_V1176L exm606264 7 12396905 [T/C] NM_001135924 VWDE EXON Missense_R1171G exm606265 7 12396938 [C/G] NM_001135924 VWDE EXON Missense_V1160L exm606266 7 12396944 [A/T] NM_001135924 VWDE EXON Missense_I1158F exm606271 7 12397130 [C/G] NM_001135924 VWDE EXON Missense_P1096A exm606273 7 12400783 [T/C] NM_001135924 VWDE EXON Missense_C1050Y exm606276 7 12400837 [A/G] NM_001135924 VWDE EXON Missense_T1032M exm606278 7 12400854 [G/C] NM_001135924 VWDE EXON Missense_F1026L exm606280 7 12401021 [T/C] NM_001135924 VWDE EXON Missense_G1009R exm606284 7 12406989 [G/C] NM_001135924 VWDE EXON Missense_K964N exm606287 7 12409173 [T/C] NM_001135924 VWDE EXON Missense_Y920C exm606288 7 12409197 [G/C] NM_001135924 VWDE EXON Missense_S912T exm606289 7 12409209 [A/G] NM_001135924 VWDE EXON Missense_S908F exm606291 7 12409263 [A/C] NM_001135924 VWDE EXON Missense_C890F exm606292 7 12409327 [T/C] NM_001135924 VWDE EXON Missense_E869K exm606294 7 12409456 [A/G] NM_001135924 VWDE EXON Missense_F826L exm606295 7 12409522 [A/G] NM_001135924 VWDE EXON Missense_Y804H exm606299 7 12409633 [C/G] NM_001135924 VWDE EXON Missense_L767V exm606301 7 12409708 [T/C] NM_001135924 VWDE EXON Missense_M742V exm606306 7 12409924 [T/C] NM_001135924 VWDE EXON Missense_E670K exm606310 7 12410112 [A/G] NM_001135924 VWDE EXON Missense_S607F exm606312 7 12410394 [T/G] NM_001135924 VWDE EXON Missense_L562M exm606315 7 12410462 [T/C] NM_001135924 VWDE EXON Missense_R539H exm606316 7 12412604 [T/G] NM_001135924 VWDE EXON Missense_T529K exm606319 7 12412692 [A/G] NM_001135924 VWDE EXON Missense_R500C exm606321 7 12412829 [T/C] NM_001135924 VWDE EXON Missense_S454N exm606325 7 12414341 [T/G] NM_001135924 VWDE EXON Missense_D430E exm606327 7 12414725 [A/G] NM_001135924 VWDE EXON Nonsense_R385X exm606329 7 12414826 [C/G] NM_001135924 VWDE EXON Missense_A351G exm606330 7 12417407 [T/C] NM_001135924 VWDE EXON Missense_G340D exm606332 7 12417503 [T/C] NM_001135924 VWDE EXON Missense_Y308C exm2270579 7 12418964 [T/C] NM_001135924 VWDE Silent exm606335 7 12419108 [A/T] NM_001135924 VWDE EXON Missense_F292I exm606344 7 12420201 [A/C] NM_001135924 VWDE EXON Nonsense_E234X exm606345 7 12420269 [C/G] NM_001135924 VWDE EXON Missense_S211C exm606350 7 12428758 [G/C] NM_001135924 VWDE EXON Missense_A157G exm606351 7 12428803 [A/G] NM_001135924 VWDE EXON Missense_S142F exm606359 7 12433330 [A/G] NM_001135924 VWDE EXON Missense_L45F exm606360 7 12433347 [T/C] NM_001135924 VWDE EXON Missense_R39H exm606362 7 12433390 [A/G] NM_001135924 VWDE EXON Missense_P25S exm606366 7 12443312 [T/C] NM_001135924 VWDE EXON Missense_A11T exm606378 7 12610578 [T/C] NM_001112706 SCIN EXON Nonsense_R56X exm606380 7 12610594 [A/G] NM_001112706 SCIN EXON Missense_H61R exm606392 7 12620766 [A/G] NM_001112706 SCIN EXON Missense_R146G exm606395 7 12620790 [C/G] NM_001112706 SCIN EXON Missense_P154A exm606399 7 12644253 [A/G] NM_001112706,NM_033128 SCIN,SCIN EXON Missense_V211M,Silent exm606411 7 12666378 [T/C] NM_001112706,NM_033128 SCIN,SCIN EXON Missense_M384T,Missense_M137T exm606415 7 12668760 [T/A] NM_001112706,NM_033128 SCIN,SCIN EXON Missense_V411D,Missense_V164D exm-rs731257 7 12669251 [A/G] NM_001112706,NM_033128 SCIN,SCIN Silent,Silent exm606417 7 12675677 [C/G] NM_001112706,NM_033128 SCIN,SCIN EXON Missense_A443P,Missense_A196P exm606420 7 12675690 [A/G] NM_001112706,NM_033128 SCIN,SCIN EXON Missense_R447Q,Missense_R200Q exm606422 7 12675713 [T/C] NM_001112706,NM_033128 SCIN,SCIN EXON Missense_F455L,Missense_F208L exm2138181 7 12675735 [A/G] NM_001112706,NM_033128 SCIN,SCIN EXON Missense_R462Q,Missense_R215Q exm606426 7 12680036 [T/G] NM_001112706,NM_033128 SCIN,SCIN EXON Missense_I492S,Missense_I245S exm606427 7 12680048 [A/G] NM_001112706,NM_033128 SCIN,SCIN EXON Missense_N496S,Missense_N249S exm606428 7 12680060 [A/G] NM_001112706,NM_033128 SCIN,SCIN EXON Missense_K500R,Missense_K253R exm606432 7 12680117 [T/C] NM_001112706,NM_033128 SCIN,SCIN EXON Missense_L519P,Missense_L272P exm606434 7 12680125 [A/G] NM_001112706,NM_033128 SCIN,SCIN EXON Missense_I522V,Missense_I275V exm606435 7 12680132 [A/G] NM_001112706,NM_033128 SCIN,SCIN EXON Missense_R524K,Missense_R277K exm606449 7 12684243 [G/C] NM_001112706,NM_033128 SCIN,SCIN EXON Missense_D598E,Missense_D351E exm606452 7 12684308 [A/C] NM_001112706,NM_033128 SCIN,SCIN EXON Missense_S620Y,Missense_S373Y exm606455 7 12689137 [A/G] NM_001112706,NM_033128 SCIN,SCIN EXON Missense_D643N,Missense_D396N exm2138204 7 12691507 [A/G] NM_001112706,NM_033128 SCIN,SCIN EXON Synonymous_K667K,Synonymous_K420K exm606460 7 12692250 [G/C] NM_001112706,NM_033128 SCIN,SCIN EXON Missense_D686E,Missense_D439E exm2264232 7 12846898 [A/C] exm-rs732577 7 12932049 [T/G] exm2262244 7 13283419 [A/G] exm-rs2080161 7 13331150 [A/C] exm2266375 7 13492428 [A/G] exm2270580 7 13900513 [T/C] exm606519 7 13978809 [T/C] NM_001163148,NM_004956,NM_001163149,NM_001163147,NM_001163151,NM_001163150,NM_001163152 ETV1,ETV1,ETV1,ETV1,ETV1,ETV1,ETV1 EXON Missense_S82G,Missense_S100G,Missense_S82G,Missense_S100G,Missense_S42G,Missense_S60G,Missense_S60G exm2266507 7 14092993 [A/G] exm606543 7 14188788 [T/C] NM_004080 DGKB EXON Missense_V795I exm606549 7 14188833 [T/C] NM_004080 DGKB EXON Missense_M780V exm2245108 7 14216519 [T/C] NM_004080,NM_145695 DGKB,DGKB EXON Missense_S751N,Missense_S751N exm606565 7 14378155 [T/C] NM_004080,NM_145695 DGKB,DGKB EXON Missense_K704E,Missense_K704E exm-rs6971925 7 14445917 [T/C] NM_004080,NM_145695 DGKB,DGKB Silent,Silent exm2266376 7 14639749 [A/G] NM_004080,NM_145695 DGKB,DGKB Silent,Silent exm606602 7 14722417 [A/G] NM_004080,NM_145695 DGKB,DGKB EXON Synonymous_S293S,Synonymous_S293S exm2258192 7 14722417 [A/G] NM_004080,NM_145695 DGKB,DGKB EXON Synonymous_S293S,Synonymous_S293S exm606619 7 14775667 [A/G] NM_004080,NM_145695 DGKB,DGKB EXON Synonymous_G107G,Synonymous_G107G exm606620 7 14775716 [A/C] NM_004080,NM_145695 DGKB,DGKB EXON Missense_F91C,Missense_F91C exm606623 7 14775755 [T/C] NM_004080,NM_145695 DGKB,DGKB EXON Missense_D78G,Missense_D78G exm2264257 7 14797634 [A/C] NM_004080,NM_145695 DGKB,DGKB Silent,Silent exm-rs2358068 7 14818166 [T/C] NM_004080,NM_145695 DGKB,DGKB Silent,Silent exm606636 7 14880830 [A/T] NM_004080,NM_145695 DGKB,DGKB EXON Missense_K20I,Missense_K20I exm-rs11520696 7 15016017 [G/C] exm-rs10244051 7 15063833 [T/G] exm-rs2191349 7 15064309 [T/G] exm2258227 7 15236392 [T/C] exm606642 7 15240972 [T/C] NM_001004320 AGMO EXON Missense_I426V exm606646 7 15405147 [T/C] NM_001004320 AGMO EXON Missense_A419T exm606651 7 15405189 [A/G] NM_001004320 AGMO EXON Nonsense_R405X exm2144696 7 15405216 [A/G] NM_001004320 AGMO EXON Missense_R396C exm606653 7 15405219 [G/C] NM_001004320 AGMO EXON Missense_L395V exm606663 7 15425096 [T/C] NM_001004320 AGMO EXON Missense_Y350C exm606666 7 15425134 [T/C] NM_001004320 AGMO EXON Missense_I337M exm606668 7 15425168 [A/G] NM_001004320 AGMO EXON Missense_P326L exm606669 7 15425180 [T/C] NM_001004320 AGMO EXON Missense_G322D exm2144721 7 15427137 [A/G] NM_001004320 AGMO EXON Missense_T284I exm606675 7 15427149 [T/G] NM_001004320 AGMO EXON Missense_S280Y exm606676 7 15427153 [A/G] NM_001004320 AGMO EXON Missense_F279L exm606688 7 15430495 [A/C] NM_001004320 AGMO EXON Missense_G238C exm606692 7 15430521 [T/C] NM_001004320 AGMO EXON Missense_R229H exm606694 7 15433761 [A/G] NM_001004320 AGMO EXON Missense_P218L exm606695 7 15433777 [G/C] NM_001004320 AGMO EXON Missense_L213V exm606699 7 15458194 [A/T] NM_001004320 AGMO EXON Missense_I200F exm606707 7 15470713 [T/C] NM_001004320 AGMO EXON Missense_G144R exm2270582 7 15496808 [T/G] NM_001004320 AGMO Silent exm-rs17168761 7 15503133 [T/C] NM_001004320 AGMO Silent exm606709 7 15584409 [A/G] NM_001004320 AGMO EXON Missense_R133C exm606724 7 15601344 [A/C] NM_001004320 AGMO Silent exm606727 7 15601379 [T/C] NM_001004320 AGMO EXON Missense_Q31R exm606730 7 15601422 [A/G] NM_001004320 AGMO EXON Missense_R17C exm606732 7 15601445 [A/T] NM_001004320 AGMO EXON Missense_D9V exm606733 7 15601449 [C/G] NM_001004320 AGMO EXON Missense_Q8E exm606737 7 15652068 [T/G] NM_005924 MEOX2 EXON Missense_I287L exm606752 7 15725607 [T/C] NM_005924 MEOX2 EXON Missense_G141R exm606760 7 15725755 [G/C] NM_005924 MEOX2 EXON Missense_N91K exm606766 7 15725806 [G/C] NM_005924 MEOX2 EXON Missense_H74Q exm606768 7 15725823 [T/G] NM_005924 MEOX2 EXON Missense_H69N exm606771 7 15725853 [T/G] NM_005924 MEOX2 EXON Missense_M59L exm606775 7 15725967 [T/G] NM_005924 MEOX2 EXON Missense_P21T exm2245367 7 15725995 [G/C] NM_005924 MEOX2 EXON Missense_S11R exm-rs10486776 7 15742786 [A/G] exm2266508 7 15788241 [A/G] exm2258249 7 16119502 [A/C] exm2262279 7 16133713 [T/C] NM_001101417,NM_001101426 ISPD,ISPD Silent,Silent exm606786 7 16255724 [A/C] NM_001101417,NM_001101426,NR_038946,NR_038947 ISPD,ISPD,LOC100506025,LOC100506025 EXON Missense_I356M,Missense_I406M,Silent,Silent exm606789 7 16298080 [T/G] NM_001101417,NM_001101426,NR_038946,NR_038947 ISPD,ISPD,LOC100506025,LOC100506025 EXON Missense_Q302K,Missense_Q352K,Silent,Silent exm606795 7 16298586 [T/G] NM_001101417,NM_001101426,NR_038946,NR_038947 ISPD,ISPD,LOC100506025,LOC100506025 EXON Missense_Q279K,Missense_Q329K,Silent,Silent exm606797 7 16298624 [T/G] NM_001101417,NM_001101426,NR_038946,NR_038947 ISPD,ISPD,LOC100506025,LOC100506025 EXON Missense_T266K,Missense_T316K,Silent,Silent exm606805 7 16341073 [A/G] NM_001101417,NM_001101426 ISPD,ISPD EXON Missense_L220F,Missense_L270F exm606818 7 16445688 [T/C] NM_001101417,NM_001101426 ISPD,ISPD EXON Missense_G178R,Missense_G178R exm606822 7 16445813 [A/G] NM_001101417,NM_001101426 ISPD,ISPD EXON Missense_A136V,Missense_A136V exm606827 7 16445900 [A/C] NM_001101417,NM_001101426 ISPD,ISPD EXON Missense_S107I,Missense_S107I exm-rs10270805 7 16500142 [A/G] exm2145561 7 16502264 [T/C] NM_015464 SOSTDC1 EXON Missense_H177R exm606853 7 16502390 [T/C] NM_015464 SOSTDC1 EXON Missense_N135S exm606862 7 16502576 [A/G] NM_015464 SOSTDC1 EXON Missense_V73A exm606864 7 16505117 [A/T] NM_015464 SOSTDC1 EXON Missense_H59Q exm2145566 7 16505144 [A/C] NM_015464 SOSTDC1 EXON Missense_L50F exm2275937 7 16505173 [A/G] NM_015464 SOSTDC1 EXON Missense_P41S exm606873 7 16566645 [C/G] NM_001195280 LRRC72 EXON Missense_T23S exm2245394 7 16577305 [C/G] NM_001195280 LRRC72 EXON Missense_W73S exm2245395 7 16607058 [A/G] NM_001195280 LRRC72 EXON Missense_N187S exm606886 7 16640445 [T/C] NM_020319 ANKMY2 EXON Missense_E423K exm606887 7 16640454 [A/G] NM_020319 ANKMY2 EXON Missense_L420F exm606890 7 16640491 [A/G] NM_020319 ANKMY2 EXON Synonymous_S407S exm2258251 7 16640491 [A/G] NM_020319 ANKMY2 EXON Synonymous_S407S exm606896 7 16640569 [A/G] NM_020319 ANKMY2 EXON Synonymous_H381H exm606903 7 16642050 [T/C] NM_020319 ANKMY2 EXON Missense_K366E exm606919 7 16650348 [T/G] NM_020319 ANKMY2 EXON Missense_E191A exm606925 7 16655389 [T/C] NM_020319 ANKMY2 EXON Missense_T171A exm606927 7 16655412 [A/G] NM_020319 ANKMY2 EXON Missense_P163L exm2145598 7 16666721 [A/G] NM_020319 ANKMY2 EXON Missense_V72A exm606938 7 16666725 [T/C] NM_020319 ANKMY2 EXON Missense_D71N exm606945 7 16676035 [T/C] NM_020319 ANKMY2 EXON Missense_R38H exm606965 7 16721012 [A/G] NM_001159767,NM_014038,NR_027624 BZW2,BZW2,BZW2 EXON Missense_I108V,Missense_I108V,Silent exm606987 7 16734537 [A/G] NM_001159767,NM_014038,NR_027624 BZW2,BZW2,BZW2 EXON Missense_D244N,Missense_D244N,Silent exm607050 7 16839423 [C/G] NM_006408 AGR2 EXON Missense_A92G exm2245401 7 16840788 [G/C] NM_006408 AGR2 EXON Missense_C81W exm2258252 7 16841346 [C/G] NM_006408 AGR2 EXON Synonymous_V25V exm607063 7 16841410 [A/G] NM_006408 AGR2 EXON Missense_I4T exm607066 7 16899222 [A/G] NM_176813 AGR3 EXON Missense_I162T exm607068 7 16900123 [A/C] NM_176813 AGR3 Silent exm607070 7 16900195 [G/C] NM_176813 AGR3 EXON Missense_T127R exm607072 7 16901035 [A/G] NM_176813 AGR3 EXON Nonsense_Q114X exm2245402 7 16901062 [T/C] NM_176813 AGR3 EXON Missense_T105A exm2145676 7 16901609 [A/G] NM_176813 AGR3 EXON Missense_M101T exm607081 7 16901685 [T/C] NM_176813 AGR3 Silent exm607082 7 16902271 [A/C] NM_176813 AGR3 EXON Missense_M63I exm2266377 7 17112981 [A/G] exm-rs4410790 7 17284577 [T/C] exm-rs6968865 7 17287269 [T/A] exm2266509 7 17345614 [A/G] NM_001621 AHR Silent exm607112 7 17349691 [A/G] NM_001621 AHR EXON Missense_K66R exm607122 7 17362191 [T/G] NM_001621 AHR EXON Missense_R107I exm607123 7 17362197 [A/G] NM_001621 AHR EXON Missense_G109D exm607126 7 17367414 [T/C] NM_001621 AHR EXON Missense_T131I exm607146 7 17373654 [T/C] NM_001621 AHR EXON Missense_P275L exm607153 7 17375320 [A/G] NM_001621 AHR EXON Missense_N357S exm607154 7 17375326 [A/G] NM_001621 AHR EXON Missense_R359Q exm607170 7 17378904 [T/G] NM_001621 AHR EXON Missense_F485L exm2145713 7 17378908 [A/G] NM_001621 AHR EXON Missense_N487D exm607171 7 17378917 [A/G] NM_001621 AHR EXON Missense_M490V exm607176 7 17378998 [T/C] NM_001621 AHR EXON Missense_P517S exm607180 7 17379098 [T/C] NM_001621 AHR EXON Missense_F550S exm607182 7 17379110 [A/G] NM_001621 AHR EXON Missense_R554K exm607191 7 17379157 [A/G] NM_001621 AHR EXON Missense_V570I exm607198 7 17379427 [A/G] NM_001621 AHR EXON Missense_V660M exm607199 7 17379437 [A/G] NM_001621 AHR EXON Missense_N663S exm607208 7 17379754 [A/G] NM_001621 AHR EXON Missense_V769M exm607214 7 17379796 [A/G] NM_001621 AHR EXON Missense_V783M exm607216 7 17379805 [A/G] NM_001621 AHR EXON Missense_M786V exm-rs10499504 7 17561583 [A/G] exm2262281 7 17644213 [T/C] exm2258254 7 17652915 [T/G] exm607232 7 17836451 [T/C] NM_015132 SNX13 EXON Synonymous_P875P exm607239 7 17838381 [T/C] NM_015132 SNX13 EXON Synonymous_R815R exm607242 7 17841269 [A/G] NM_015132 SNX13 EXON Missense_I747T exm607264 7 17865659 [T/A] NM_015132 SNX13 EXON Missense_Y564F exm607267 7 17874395 [T/C] NM_015132 SNX13 EXON Missense_I485V exm607285 7 17889971 [T/C] NM_015132 SNX13 EXON Missense_K355R exm607289 7 17890565 [T/C] NM_015132 SNX13 EXON Missense_Y287C exm-rs10282707 7 17911038 [T/C] NM_015132 SNX13 Silent exm607292 7 17913195 [A/G] NM_015132 SNX13 EXON Missense_P237S exm2264234 7 18022771 [A/C] exm607319 7 18066561 [T/C] NM_175886 PRPS1L1 EXON Missense_K282R exm607320 7 18066569 [A/C] NM_175886 PRPS1L1 EXON Missense_E279D exm607321 7 18066679 [T/C] NM_175886 PRPS1L1 EXON Missense_R243G exm607325 7 18066819 [T/C] NM_175886 PRPS1L1 EXON Missense_R196Q exm607331 7 18067054 [T/G] NM_175886 PRPS1L1 EXON Missense_I118L exm607338 7 18067174 [T/G] NM_175886 PRPS1L1 EXON Missense_K78Q exm607341 7 18067243 [T/C] NM_175886 PRPS1L1 EXON Missense_I55V exm607342 7 18067261 [G/C] NM_175886 PRPS1L1 EXON Missense_R49G exm607344 7 18067273 [T/C] NM_175886 PRPS1L1 EXON Missense_D45N exm607348 7 18067404 [A/G] NM_175886 PRPS1L1 EXON Missense_T1M exm2266378 7 18504411 [A/G] NM_001204144 HDAC9 Silent exm607349 7 18535940 [C/G] NM_001204144,NM_014707,NM_178423,NM_001204146,NM_001204145,NM_178425,NM_058176 HDAC9,HDAC9,HDAC9,HDAC9,HDAC9,HDAC9,HDAC9 EXON Missense_I47M,Missense_I5M,Missense_I5M,Missense_I5M,Missense_I5M,Missense_I5M,Missense_I5M exm607360 7 18629980 [A/G] NM_001204144,NM_014707,NM_178423,NM_001204146,NM_001204145,NM_178425,NM_058176,NM_001204147,NM_001204148 HDAC9,HDAC9,HDAC9,HDAC9,HDAC9,HDAC9,HDAC9,HDAC9,HDAC9 EXON Missense_I135V,Missense_I93V,Missense_I93V,Missense_I96V,Missense_I93V,Missense_I96V,Missense_I93V,Missense_I62V,Missense_I65V exm607368 7 18631223 [G/C] NM_001204144,NM_014707,NM_178423,NM_001204146,NM_001204145,NM_178425,NM_058176,NM_001204147,NM_001204148 HDAC9,HDAC9,HDAC9,HDAC9,HDAC9,HDAC9,HDAC9,HDAC9,HDAC9 EXON Missense_G206A,Missense_G164A,Missense_G164A,Missense_G167A,Missense_G164A,Missense_G167A,Missense_G164A,Missense_G133A,Missense_G136A exm607373 7 18674363 [A/G] NM_001204144,NM_014707,NM_178423,NM_001204146,NM_001204145,NM_178425,NM_058176,NM_001204147,NM_001204148 HDAC9,HDAC9,HDAC9,HDAC9,HDAC9,HDAC9,HDAC9,HDAC9,HDAC9 EXON Missense_E299K,Missense_E301K,Missense_E301K,Missense_E260K,Missense_E257K,Missense_E304K,Missense_E301K,Missense_E224K,Missense_E273K exm2145812 7 18684399 [A/G] NM_001204144,NM_014707,NM_178423,NM_001204146,NM_001204145,NM_178425,NM_058176,NM_001204147,NM_001204148 HDAC9,HDAC9,HDAC9,HDAC9,HDAC9,HDAC9,HDAC9,HDAC9,HDAC9 EXON Missense_V335M,Missense_V337M,Missense_V337M,Missense_V296M,Missense_V293M,Missense_V340M,Missense_V337M,Missense_V260M,Missense_V309M exm607394 7 18705957 [G/C] NM_001204144,NM_014707,NM_178423,NM_001204146,NM_001204145,NM_178425,NM_058176,NM_001204147,NM_001204148 HDAC9,HDAC9,HDAC9,HDAC9,HDAC9,HDAC9,HDAC9,HDAC9,HDAC9 EXON Missense_T525S,Missense_T527S,Missense_T527S,Missense_T486S,Missense_T483S,Missense_T530S,Missense_T527S,Missense_T450S,Missense_T499S exm2266510 7 18706918 [A/G] NM_001204144,NM_014707,NM_178423,NM_001204146,NM_001204145,NM_178425,NM_058176,NM_001204147,NM_001204148 HDAC9,HDAC9,HDAC9,HDAC9,HDAC9,HDAC9,HDAC9,HDAC9,HDAC9 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm607401 7 18767219 [A/C] NM_178423,NM_178425,NM_058176 HDAC9,HDAC9,HDAC9 EXON Missense_T580K,Missense_T583K,Missense_T580K exm2258256 7 18767352 [T/C] NM_178423,NM_178425,NM_058176 HDAC9,HDAC9,HDAC9 EXON Synonymous_D624D,Synonymous_D627D,Synonymous_D624D exm607415 7 18801781 [A/G] NM_178423,NM_178425,NM_058176 HDAC9,HDAC9,HDAC9 EXON Missense_R679Q,Missense_R682Q,Missense_R679Q exm607423 7 18806778 [T/G] NM_178423,NM_178425,NM_058176 HDAC9,HDAC9,HDAC9 EXON Synonymous_G735G,Synonymous_G738G,Synonymous_G735G exm607439 7 18875199 [A/C] NM_178423,NM_178425,NM_058176 HDAC9,HDAC9,HDAC9 EXON Missense_A856D,Missense_A859D,Missense_A856D exm2266379 7 18891259 [A/G] NM_178423,NM_178425,NM_058176 HDAC9,HDAC9,HDAC9 Silent,Silent,Silent exm607453 7 18993806 [T/C] NM_178423,NM_178425,NM_058176 HDAC9,HDAC9,HDAC9 EXON Missense_P989L,Missense_P992L,Missense_P989L exm607454 7 18993842 [T/C] NM_178423,NM_178425,NM_058176 HDAC9,HDAC9,HDAC9 EXON Missense_I1001T,Missense_I1004T,Missense_I1001T exm-rs2717351 7 19019880 [A/G] NM_178423,NM_178425 HDAC9,HDAC9 Silent,Silent exm607463 7 19035677 [C/G] NM_178423,NM_178425 HDAC9,HDAC9 EXON Missense_A1065P,Missense_A1068P exm607464 7 19035678 [T/C] NM_178423,NM_178425 HDAC9,HDAC9 EXON Missense_A1065V,Missense_A1068V exm-rs2023938 7 19036775 [T/C] NM_178423,NM_178425 HDAC9,HDAC9 EXON Silent,Silent exm2266511 7 19104468 [A/G] exm607491 7 19184631 [T/C] NM_152898 FERD3L EXON Missense_E119K exm607496 7 19184732 [A/C] NM_152898 FERD3L EXON Missense_G85V exm2270585 7 19337064 [T/C] exm-rs4470914 7 19616522 [T/C] exm607514 7 19737998 [T/C] NM_001002926 TWISTNB EXON Missense_E320K exm2145890 7 19739752 [T/C] NM_001002926 TWISTNB EXON Missense_R183H exm607538 7 19744409 [T/C] NM_001002926 TWISTNB EXON Missense_K130R exm2145895 7 19748587 [A/G] NM_001002926 TWISTNB EXON Missense_S18F exm2245413 7 19765188 [T/C] NM_152774 TMEM196 EXON Missense_M136I exm-rs6977660 7 19805480 [T/C] NM_152774 TMEM196 Silent exm2270730 7 19980396 [T/C] exm2270586 7 19999873 [T/C] exm-rs38152 7 20047575 [A/C] exm607607 7 20180717 [G/C] NM_182762 MACC1 EXON Missense_R804T exm607608 7 20180736 [A/G] NM_182762 MACC1 EXON Missense_H798Y exm607609 7 20180760 [T/C] NM_182762 MACC1 EXON Missense_D790N exm607611 7 20180780 [A/C] NM_182762 MACC1 EXON Missense_M783R exm607614 7 20193851 [A/G] NM_182762 MACC1 EXON Missense_P771S exm607616 7 20193886 [T/C] NM_182762 MACC1 EXON Missense_R759Q exm2145914 7 20193887 [A/G] NM_182762 MACC1 EXON Nonsense_R759X exm607617 7 20193894 [G/C] NM_182762 MACC1 EXON Missense_K756N exm607622 7 20193979 [T/G] NM_182762 MACC1 EXON Missense_E728A exm607623 7 20193988 [T/G] NM_182762 MACC1 EXON Missense_D725A exm607625 7 20197826 [T/C] NM_182762 MACC1 Silent exm607629 7 20197918 [T/G] NM_182762 MACC1 EXON Missense_E689A exm607633 7 20198030 [A/C] NM_182762 MACC1 EXON Missense_V652F exm607635 7 20198048 [T/A] NM_182762 MACC1 EXON Missense_L646M exm2145922 7 20198240 [G/C] NM_182762 MACC1 EXON Missense_G582R exm607644 7 20198321 [A/C] NM_182762 MACC1 EXON Missense_V555L exm2274221 7 20198375 [T/G] NM_182762 MACC1 EXON Missense_L537I exm607647 7 20198440 [A/G] NM_182762 MACC1 EXON Missense_S515L exm607653 7 20198546 [A/T] NM_182762 MACC1 EXON Missense_M480L exm607658 7 20198700 [T/G] NM_182762 MACC1 EXON Missense_D428E exm607669 7 20198845 [A/G] NM_182762 MACC1 EXON Missense_I380T exm607675 7 20198917 [A/G] NM_182762 MACC1 EXON Missense_P356L exm2145927 7 20198929 [C/G] NM_182762 MACC1 EXON Missense_A352G exm607680 7 20199023 [T/G] NM_182762 MACC1 EXON Missense_K321Q exm607693 7 20199214 [A/G] NM_182762 MACC1 EXON Missense_P257L exm607702 7 20199416 [A/G] NM_182762 MACC1 EXON Missense_R190C exm607703 7 20199433 [T/C] NM_182762 MACC1 EXON Missense_S184N exm607711 7 20199532 [A/G] NM_182762 MACC1 EXON Missense_A151V exm607712 7 20199589 [A/C] NM_182762 MACC1 EXON Missense_R132I exm607721 7 20199780 [A/C] NM_182762 MACC1 EXON Missense_W68C exm607723 7 20199835 [A/G] NM_182762 MACC1 EXON Missense_P50L exm607729 7 20201376 [A/C] NM_182762 MACC1 EXON Missense_I37S exm607731 7 20201397 [T/C] NM_182762 MACC1 EXON Missense_K30R exm607733 7 20201444 [A/C] NM_182762 MACC1 EXON Missense_I14M exm607734 7 20201458 [A/G] NM_182762 MACC1 EXON Missense_R10W exm-rs3807935 7 20388432 [A/C] NM_002214 ITGB8 Silent exm607759 7 20418794 [G/C] NM_002214 ITGB8 EXON Missense_G170A exm607760 7 20418829 [T/C] NM_002214 ITGB8 EXON Missense_R182C exm607787 7 20434528 [A/C] NM_002214 ITGB8 EXON Missense_P356T exm607794 7 20441397 [A/C] NM_002214 ITGB8 EXON Missense_K445N exm607799 7 20441504 [A/G] NM_002214 ITGB8 EXON Missense_C481Y exm607801 7 20441545 [A/G] NM_002214 ITGB8 EXON Missense_D495N exm607810 7 20444402 [C/G] NM_002214 ITGB8 EXON Missense_E613D exm2145994 7 20449362 [T/G] NM_002214 ITGB8 EXON Missense_I716M exm-rs10950821 7 20647015 [C/G] exm607828 7 20666191 [A/C] NM_001163941 ABCB5 EXON Missense_E22A exm607831 7 20666226 [A/G] NM_001163941 ABCB5 EXON Missense_I34V exm607833 7 20666235 [C/G] NM_001163941 ABCB5 Silent exm2258262 7 20668403 [A/G] NM_001163941 ABCB5 EXON Synonymous_L67L exm607851 7 20682892 [T/C] NM_001163941 ABCB5 EXON Nonsense_R134X exm2245414 7 20682925 [T/C] NM_001163941 ABCB5 EXON Missense_H145Y exm607856 7 20682949 [A/G] NM_001163941 ABCB5 EXON Missense_G153S exm607857 7 20682955 [T/G] NM_001163941 ABCB5 EXON Missense_F155V exm607859 7 20682989 [A/G] NM_001163941 ABCB5 EXON Missense_R166H exm2258263 7 20683156 [A/G] NM_001163941 ABCB5 EXON Synonymous_S193S exm607862 7 20683170 [T/C] NM_001163941 ABCB5 EXON Missense_V198A exm607870 7 20683255 [A/G] NM_001163941 ABCB5 EXON Synonymous_R226R exm607873 7 20685479 [A/G] NM_001163941 ABCB5 EXON Missense_R260K exm607874 7 20685484 [A/C] NM_001163941 ABCB5 EXON Missense_Q262K exm2258264 7 20686111 [A/C] NM_001163941 ABCB5 Silent exm607886 7 20687192 [T/C] NM_001163941,NM_001163993,NM_178559,NM_001163942 ABCB5,ABCB5,ABCB5,ABCB5 EXON Missense_I339T,Silent,Silent,Silent exm607889 7 20687233 [T/C] NM_001163941,NM_001163993,NM_178559,NM_001163942 ABCB5,ABCB5,ABCB5,ABCB5 EXON Nonsense_R353X,Silent,Silent,Silent exm607891 7 20687600 [A/G] NM_001163941,NM_001163993,NM_178559,NM_001163942 ABCB5,ABCB5,ABCB5,ABCB5 EXON Missense_I369V,Silent,Silent,Silent exm607894 7 20689649 [T/G] NM_001163941,NM_001163993,NM_178559,NM_001163942 ABCB5,ABCB5,ABCB5,ABCB5 EXON Missense_L404R,Silent,Silent,Silent exm607895 7 20689679 [G/C] NM_001163941,NM_001163993,NM_178559,NM_001163942 ABCB5,ABCB5,ABCB5,ABCB5 EXON Missense_G414A,Silent,Silent,Silent exm607899 7 20689724 [T/C] NM_001163941,NM_001163993,NM_178559,NM_001163942 ABCB5,ABCB5,ABCB5,ABCB5 EXON Missense_T429M,Silent,Silent,Silent exm607905 7 20691041 [A/G] NM_001163941,NM_001163993,NM_178559,NM_001163942 ABCB5,ABCB5,ABCB5,ABCB5 Silent,Silent,Silent,Silent exm607906 7 20691047 [T/C] NM_001163941,NM_001163993,NM_178559,NM_001163942 ABCB5,ABCB5,ABCB5,ABCB5 EXON Missense_M446T,Missense_M1T,Missense_M1T,Missense_M1T exm607912 7 20691167 [A/G] NM_001163941,NM_001163993,NM_178559,NM_001163942 ABCB5,ABCB5,ABCB5,ABCB5 EXON Missense_R486Q,Missense_R41Q,Missense_R41Q,Missense_R41Q exm607918 7 20691246 [T/C] NM_001163941,NM_001163993,NM_178559,NM_001163942 ABCB5,ABCB5,ABCB5,ABCB5 EXON Synonymous_N512N,Synonymous_N67N,Synonymous_N67N,Synonymous_N67N exm607927 7 20698164 [A/C] NM_001163941,NM_001163993,NM_178559,NM_001163942 ABCB5,ABCB5,ABCB5,ABCB5 EXON Missense_Q524H,Missense_Q79H,Missense_Q79H,Missense_Q79H exm607933 7 20698270 [A/G] NM_001163941,NM_001163993,NM_178559,NM_001163942 ABCB5,ABCB5,ABCB5,ABCB5 EXON Missense_K560E,Missense_K115E,Missense_K115E,Missense_K115E exm607936 7 20698693 [T/C] NM_001163941,NM_001163993,NM_178559,NM_001163942 ABCB5,ABCB5,ABCB5,ABCB5 EXON Silent,Silent,Silent,Missense_T126I exm607945 7 20721129 [T/C] NM_001163941,NM_178559 ABCB5,ABCB5 EXON Missense_A570V,Missense_A125V exm607947 7 20721141 [A/G] NM_001163941,NM_178559 ABCB5,ABCB5 EXON Missense_R574Q,Missense_R129Q exm607949 7 20721152 [A/G] NM_001163941,NM_178559 ABCB5,ABCB5 EXON Missense_V578M,Missense_V133M exm607951 7 20721165 [A/G] NM_001163941,NM_178559 ABCB5,ABCB5 EXON Missense_R582Q,Missense_R137Q exm607956 7 20721260 [C/G] NM_001163941,NM_178559 ABCB5,ABCB5 EXON Missense_G614R,Missense_G169R exm2274223 7 20721267 [A/G] NM_001163941,NM_178559 ABCB5,ABCB5 EXON Missense_Y616C,Missense_Y171C exm607958 7 20725325 [A/T] NM_001163941,NM_178559 ABCB5,ABCB5 EXON Nonsense_K626X,Nonsense_K181X exm607966 7 20738141 [A/G] NM_001163941,NM_178559 ABCB5,ABCB5 EXON Missense_V708I,Missense_V263I exm607979 7 20739715 [T/C] NM_001163941,NM_178559 ABCB5,ABCB5 EXON Missense_T765M,Missense_T320M exm607981 7 20744360 [T/G] NM_001163941,NM_178559 ABCB5,ABCB5 EXON Missense_F784C,Missense_F339C exm607987 7 20762646 [T/G] NM_001163941,NM_178559 ABCB5,ABCB5 EXON Missense_G810V,Missense_G365V exm607988 7 20762648 [T/G] NM_001163941,NM_178559 ABCB5,ABCB5 EXON Missense_S811A,Missense_S366A exm607998 7 20762786 [A/G] NM_001163941,NM_178559 ABCB5,ABCB5 EXON Missense_A857T,Missense_A412T exm608000 7 20762808 [A/G] NM_001163941,NM_178559 ABCB5,ABCB5 EXON Missense_N864S,Missense_N419S exm608001 7 20762809 [A/C] NM_001163941,NM_178559 ABCB5,ABCB5 EXON Missense_N864K,Missense_N419K exm608002 7 20762826 [T/A] NM_001163941,NM_178559 ABCB5,ABCB5 EXON Missense_L870H,Missense_L425H exm608009 7 20766752 [T/G] NM_001163941,NM_178559 ABCB5,ABCB5 EXON Missense_Q905H,Missense_Q460H exm608010 7 20767954 [A/G] NM_001163941,NM_178559 ABCB5,ABCB5 EXON Missense_A915T,Missense_A470T exm608011 7 20767981 [T/C] NM_001163941,NM_178559 ABCB5,ABCB5 EXON Missense_F924L,Missense_F479L exm608014 7 20768023 [T/C] NM_001163941,NM_178559 ABCB5,ABCB5 EXON Nonsense_R938X,Nonsense_R493X exm608015 7 20768033 [A/C] NM_001163941,NM_178559 ABCB5,ABCB5 EXON Missense_A941D,Missense_A496D exm608017 7 20768077 [T/A] NM_001163941,NM_178559 ABCB5,ABCB5 EXON Missense_I956L,Missense_I511L exm608020 7 20778646 [A/G] NM_001163941,NM_178559 ABCB5,ABCB5 EXON Missense_E970K,Missense_E525K exm608021 7 20778655 [A/G] NM_001163941,NM_178559 ABCB5,ABCB5 EXON Missense_V973I,Missense_V528I exm608022 7 20778695 [T/C] NM_001163941,NM_178559 ABCB5,ABCB5 EXON Missense_A986V,Missense_A541V exm608023 7 20778732 [A/G] NM_001163941,NM_178559 ABCB5,ABCB5 EXON Missense_I998M,Missense_I553M exm608024 7 20778733 [A/G] NM_001163941,NM_178559 ABCB5,ABCB5 EXON Missense_D999N,Missense_D554N exm608026 7 20778745 [T/C] NM_001163941,NM_178559 ABCB5,ABCB5 EXON Nonsense_Q1003X,Nonsense_Q558X exm608033 7 20782527 [T/C] NM_001163941,NM_178559 ABCB5,ABCB5 EXON Nonsense_R1018X,Nonsense_R573X exm608035 7 20782542 [T/C] NM_001163941,NM_178559 ABCB5,ABCB5 EXON Missense_F1023L,Missense_F578L exm2245416 7 20782575 [T/C] NM_001163941,NM_178559 ABCB5,ABCB5 EXON Missense_R1034C,Missense_R589C exm608037 7 20782599 [T/C] NM_001163941,NM_178559 ABCB5,ABCB5 EXON Nonsense_R1042X,Nonsense_R597X exm608039 7 20782621 [T/C] NM_001163941,NM_178559 ABCB5,ABCB5 EXON Missense_V1049A,Missense_V604A exm608040 7 20782629 [A/G] NM_001163941,NM_178559 ABCB5,ABCB5 EXON Missense_S1052G,Missense_S607G exm608052 7 20784910 [T/C] NM_001163941,NM_178559 ABCB5,ABCB5 EXON Missense_I1093T,Missense_I648T exm608054 7 20784936 [A/C] NM_001163941,NM_178559 ABCB5,ABCB5 EXON Missense_L1102I,Missense_L657I exm608057 7 20784996 [T/G] NM_001163941,NM_178559 ABCB5,ABCB5 EXON Missense_L1122V,Missense_L677V exm608058 7 20785002 [A/G] NM_001163941,NM_178559 ABCB5,ABCB5 EXON Missense_E1124K,Missense_E679K exm608059 7 20785011 [A/G] NM_001163941,NM_178559 ABCB5,ABCB5 EXON Missense_E1127K,Missense_E682K exm608060 7 20785017 [A/G] NM_001163941,NM_178559 ABCB5,ABCB5 EXON Missense_A1129T,Missense_A684T exm2274224 7 20793100 [A/C] NM_001163941,NM_178559 ABCB5,ABCB5 EXON Missense_T1183P,Missense_T738P exm608066 7 20793113 [A/G] NM_001163941,NM_178559 ABCB5,ABCB5 EXON Missense_D1187G,Missense_D742G exm608068 7 20795056 [T/C] NM_001163941,NM_178559 ABCB5,ABCB5 EXON Nonsense_Q1195X,Nonsense_Q750X exm608071 7 20795092 [T/G] NM_001163941,NM_178559 ABCB5,ABCB5 EXON Missense_C1207G,Missense_C762G exm608072 7 20795099 [T/C] NM_001163941,NM_178559 ABCB5,ABCB5 EXON Missense_V1209A,Missense_V764A exm608079 7 20795237 [C/G] NM_001163941,NM_178559 ABCB5,ABCB5 EXON Nonsense_S1255X,Nonsense_S810X exm608115 7 20825213 [T/A] NM_198956,NM_182700 SP8,SP8 EXON Missense_S57T,Missense_S75T exm608116 7 20825215 [A/G] NM_198956,NM_182700 SP8,SP8 EXON Missense_V56A,Missense_V74A exm-rs2709736 7 20862302 [T/C] exm2266380 7 20960488 [A/G] exm-rs12155172 7 20994491 [A/G] exm608171 7 21469640 [G/C] NM_003112 SP4 EXON Missense_P286R exm2146093 7 21469680 [A/G] NM_003112 SP4 EXON Synonymous_Q299Q exm608177 7 21469700 [A/G] NM_003112 SP4 EXON Missense_N306S exm608185 7 21469814 [A/C] NM_003112 SP4 EXON Missense_T344N exm608186 7 21469826 [G/C] NM_003112 SP4 EXON Missense_A348G exm608199 7 21470330 [G/C] NM_003112 SP4 EXON Missense_A516G exm608202 7 21470443 [A/G] NM_003112 SP4 EXON Missense_T554A exm-rs17144465 7 21504427 [A/G] NM_003112 SP4 Silent exm608222 7 21550859 [A/G] NM_003112 SP4 EXON Missense_N776S exm608238 7 21584693 [T/G] NM_003777 DNAH11 EXON Missense_D141Y exm608239 7 21584742 [A/G] NM_003777 DNAH11 EXON Missense_G157E exm608244 7 21598493 [A/T] NM_003777 DNAH11 EXON Missense_Y190F exm608245 7 21598500 [A/G] NM_003777 DNAH11 EXON Missense_I192M exm608250 7 21598564 [A/G] NM_003777 DNAH11 EXON Missense_I214V exm608252 7 21598585 [T/A] NM_003777 DNAH11 EXON Missense_M221L exm608253 7 21599223 [T/C] NM_003777 DNAH11 EXON Missense_P232L exm608257 7 21599322 [A/G] NM_003777 DNAH11 EXON Missense_R265H exm608269 7 21600738 [A/G] NM_003777 DNAH11 EXON Missense_Q311R exm608281 7 21603876 [T/C] NM_003777 DNAH11 EXON Missense_T352M exm-rs12670798 7 21607352 [T/C] NM_003777 DNAH11 Silent exm608291 7 21609691 [T/C] NM_003777 DNAH11 EXON Missense_T400I exm608295 7 21609889 [A/C] NM_003777 DNAH11 EXON Missense_K466T exm2146125 7 21611533 [A/T] NM_003777 DNAH11 EXON Missense_M512K exm608299 7 21611565 [T/C] NM_003777 DNAH11 EXON Missense_Y523H exm608300 7 21611571 [T/C] NM_003777 DNAH11 EXON Missense_P525S exm608301 7 21611584 [G/C] NM_003777 DNAH11 EXON Missense_T529S exm608302 7 21621609 [A/T] NM_003777 DNAH11 EXON Missense_F560L exm2245427 7 21621629 [G/C] NM_003777 DNAH11 EXON Missense_A567G exm608304 7 21621631 [A/G] NM_003777 DNAH11 EXON Missense_A568T exm608314 7 21628196 [T/C] NM_003777 DNAH11 EXON Nonsense_Q639X exm608315 7 21628197 [A/G] NM_003777 DNAH11 EXON Missense_Q639R exm2258267 7 21628237 [T/C] NM_003777 DNAH11 EXON Synonymous_F652F exm608317 7 21628237 [T/C] NM_003777 DNAH11 EXON Synonymous_F652F exm608318 7 21628242 [C/G] NM_003777 DNAH11 EXON Missense_S654C exm608320 7 21628890 [A/G] NM_003777 DNAH11 EXON Missense_D680N exm608329 7 21630546 [T/G] NM_003777 DNAH11 EXON Missense_V727G exm608337 7 21630908 [A/G] NM_003777 DNAH11 EXON Missense_E794K exm608343 7 21631014 [A/G] NM_003777 DNAH11 EXON Missense_R829H exm608348 7 21631070 [A/G] NM_003777 DNAH11 EXON Missense_V848M exm608351 7 21631107 [T/C] NM_003777 DNAH11 EXON Missense_A860V exm608359 7 21639520 [A/T] NM_003777 DNAH11 EXON Missense_D928V exm608362 7 21639561 [A/C] NM_003777 DNAH11 EXON Missense_P942T exm608364 7 21639649 [A/G] NM_003777 DNAH11 EXON Missense_D971G exm608367 7 21640338 [T/G] NM_003777 DNAH11 EXON Missense_E1015D exm608369 7 21640361 [T/C] NM_003777 DNAH11 EXON Missense_V1023A exm608373 7 21640405 [A/G] NM_003777 DNAH11 EXON Missense_T1038A exm608395 7 21640782 [T/G] NM_003777 DNAH11 EXON Missense_R1137I exm608396 7 21640784 [T/C] NM_003777 DNAH11 EXON Missense_F1138L exm608400 7 21641054 [A/G] NM_003777 DNAH11 EXON Missense_G1156R exm608407 7 21641222 [T/C] NM_003777 DNAH11 EXON Missense_Y1212H exm608408 7 21641223 [A/G] NM_003777 DNAH11 EXON Missense_Y1212C exm608409 7 21641234 [A/G] NM_003777 DNAH11 EXON Missense_E1216K exm608410 7 21641236 [A/G] NM_003777 DNAH11 EXON Synonymous_E1216E exm608421 7 21654749 [C/G] NM_003777 DNAH11 EXON Missense_E1290D exm608426 7 21654825 [A/G] NM_003777 DNAH11 EXON Missense_M1316V exm608427 7 21654880 [T/C] NM_003777 DNAH11 EXON Missense_I1334T exm608433 7 21657265 [A/G] NM_003777 DNAH11 EXON Missense_R1380H exm608437 7 21657343 [A/G] NM_003777 DNAH11 EXON Missense_Q1406R exm608438 7 21657365 [T/G] NM_003777 DNAH11 EXON Missense_R1413S exm608441 7 21658745 [A/G] NM_003777 DNAH11 EXON Missense_T1433A exm608447 7 21659626 [T/C] NM_003777 DNAH11 EXON Missense_V1482A exm608451 7 21659659 [T/C] NM_003777 DNAH11 EXON Missense_S1493F exm2258268 7 21663873 [A/G] NM_003777 DNAH11 Silent exm2258269 7 21675564 [T/C] NM_003777 DNAH11 EXON Synonymous_L1531L exm608461 7 21677237 [C/G] NM_003777 DNAH11 EXON Missense_M1583I exm608462 7 21677278 [T/G] NM_003777 DNAH11 EXON Missense_C1597F exm608466 7 21678607 [T/C] NM_003777 DNAH11 EXON Missense_I1628T exm608468 7 21678643 [A/G] NM_003777 DNAH11 EXON Missense_D1640G exm2258270 7 21695533 [A/G] NM_003777 DNAH11 EXON Synonymous_A1681A exm608479 7 21698453 [A/G] NM_003777 DNAH11 EXON Missense_Q1716R exm608480 7 21698459 [T/C] NM_003777 DNAH11 EXON Missense_T1718M exm608483 7 21698506 [T/C] NM_003777 DNAH11 EXON Missense_P1734S exm608487 7 21698587 [A/G] NM_003777 DNAH11 EXON Missense_I1761V exm608488 7 21698591 [T/C] NM_003777 DNAH11 EXON Missense_A1762V exm608491 7 21698639 [A/G] NM_003777 DNAH11 EXON Missense_H1778R exm608501 7 21723431 [A/G] NM_003777 DNAH11 EXON Synonymous_L1837L exm608508 7 21726766 [T/C] NM_003777 DNAH11 EXON Missense_P1898S exm608510 7 21726786 [T/C] NM_003777 DNAH11 EXON Synonymous_T1904T exm608512 7 21726835 [T/G] NM_003777 DNAH11 EXON Missense_V1921F exm608513 7 21726856 [A/G] NM_003777 DNAH11 EXON Missense_E1928K exm608528 7 21737718 [A/G] NM_003777 DNAH11 EXON Missense_I2030V exm608531 7 21737768 [A/G] NM_003777 DNAH11 EXON Synonymous_A2046A exm608532 7 21737769 [T/C] NM_003777 DNAH11 EXON Missense_R2047C exm-rs368331 7 21742974 [A/G] NM_003777 DNAH11 Silent exm608546 7 21744130 [A/G] NM_003777 DNAH11 EXON Missense_G2125S exm608560 7 21747364 [A/G] NM_003777 DNAH11 EXON Synonymous_P2205P exm608561 7 21747377 [T/C] NM_003777 DNAH11 EXON Synonymous_L2210L exm2262287 7 21749502 [T/C] NM_003777 DNAH11 Silent exm608566 7 21750213 [A/G] NM_003777 DNAH11 EXON Synonymous_L2249L exm608567 7 21750214 [T/C] NM_003777 DNAH11 EXON Nonsense_R2250X exm608571 7 21751341 [A/C] NM_003777 DNAH11 EXON Synonymous_L2289L exm608574 7 21751410 [T/C] NM_003777 DNAH11 EXON Synonymous_S2312S exm608579 7 21751465 [C/G] NM_003777 DNAH11 EXON Missense_L2331V exm608588 7 21765452 [T/C] NM_003777 DNAH11 EXON Synonymous_F2437F exm608589 7 21765456 [T/C] NM_003777 DNAH11 EXON Missense_R2439W exm608591 7 21765494 [A/G] NM_003777 DNAH11 EXON Synonymous_P2451P exm608592 7 21765497 [A/G] NM_003777 DNAH11 EXON Synonymous_S2452S exm608597 7 21775266 [T/C] NM_003777 DNAH11 EXON Synonymous_L2490L exm608601 7 21775369 [A/G] NM_003777 DNAH11 EXON Missense_V2525I exm608604 7 21775387 [T/C] NM_003777 DNAH11 EXON Synonymous_L2531L exm608605 7 21775396 [C/G] NM_003777 DNAH11 EXON Missense_L2534V exm608608 7 21775443 [A/G] NM_003777 DNAH11 EXON Synonymous_T2549T exm2277341 7 21775446 [A/G] NM_003777 DNAH11 EXON Synonymous_T2550T exm608611 7 21778429 [T/C] NM_003777 DNAH11 EXON Missense_Y2593H exm608612 7 21778438 [A/G] NM_003777 DNAH11 EXON Missense_V2596I exm608613 7 21778449 [T/C] NM_003777 DNAH11 EXON Synonymous_H2599H exm608629 7 21781653 [A/G] NM_003777 DNAH11 EXON Missense_I2682V exm608640 7 21781781 [T/C] NM_003777 DNAH11 EXON Synonymous_F2724F exm608642 7 21784089 [T/G] NM_003777 DNAH11 EXON Missense_G2737C exm608647 7 21784167 [T/C] NM_003777 DNAH11 EXON Missense_C2763R exm608651 7 21784200 [A/G] NM_003777 DNAH11 EXON Missense_A2774T exm608654 7 21784489 [A/G] NM_003777 DNAH11 EXON Missense_G2780D exm2245434 7 21784506 [A/C] NM_003777 DNAH11 EXON Missense_L2786M exm608656 7 21784533 [G/C] NM_003777 DNAH11 EXON Missense_H2795D exm608657 7 21784553 [A/G] NM_003777 DNAH11 EXON Synonymous_K2801K exm608659 7 21784649 [T/C] NM_003777 DNAH11 EXON Synonymous_H2833H exm608660 7 21788208 [A/G] NM_003777 DNAH11 EXON Missense_S2848G exm608662 7 21788220 [C/G] NM_003777 DNAH11 EXON Missense_R2852G exm608665 7 21788259 [A/G] NM_003777 DNAH11 EXON Missense_G2865S exm608671 7 21788358 [T/C] NM_003777 DNAH11 EXON Missense_R2898W exm608690 7 21805078 [A/G] NM_003777 DNAH11 EXON Synonymous_T2998T exm608694 7 21805108 [T/C] NM_003777 DNAH11 EXON Synonymous_A3008A exm608697 7 21805123 [A/G] NM_003777 DNAH11 EXON Synonymous_T3013T exm608701 7 21805150 [A/G] NM_003777 DNAH11 EXON Synonymous_P3022P exm608713 7 21813560 [T/C] NM_003777 DNAH11 EXON Synonymous_S3100S exm608721 7 21818641 [G/C] NM_003777 DNAH11 EXON Synonymous_A3141A exm608722 7 21818674 [A/G] NM_003777 DNAH11 EXON Synonymous_T3152T exm608723 7 21818704 [T/A] NM_003777 DNAH11 EXON Synonymous_A3162A exm608724 7 21818707 [T/C] NM_003777 DNAH11 EXON Synonymous_D3163D exm608726 7 21824122 [A/G] NM_003777 DNAH11 EXON Synonymous_L3194L exm608733 7 21826284 [A/G] NM_003777 DNAH11 EXON Missense_A3221T exm608734 7 21826286 [A/G] NM_003777 DNAH11 EXON Synonymous_A3221A exm608740 7 21827060 [C/G] NM_003777 DNAH11 EXON Missense_E3268D exm608742 7 21827072 [T/G] NM_003777 DNAH11 EXON Missense_E3272D exm608744 7 21827146 [C/G] NM_003777 DNAH11 EXON Missense_S3297C exm608746 7 21828869 [T/A] NM_003777 DNAH11 EXON Missense_D3319V exm608747 7 21828873 [A/G] NM_003777 DNAH11 EXON Synonymous_V3320V exm608750 7 21828900 [A/G] NM_003777 DNAH11 EXON Synonymous_Q3329Q exm2146263 7 21847580 [A/G] NM_003777 DNAH11 EXON Synonymous_A3422A exm608767 7 21856102 [C/G] NM_003777 DNAH11 EXON Synonymous_T3457T exm608773 7 21856151 [A/G] NM_003777 DNAH11 EXON Missense_A3474T exm2146267 7 21856163 [A/G] NM_003777 DNAH11 EXON Missense_E3478K exm608779 7 21856287 [T/G] NM_003777 DNAH11 EXON Missense_M3519R exm608791 7 21882252 [A/G] NM_003777 DNAH11 EXON Synonymous_P3601P exm608802 7 21892174 [A/G] NM_003777 DNAH11 EXON Synonymous_G3669G exm608805 7 21892247 [A/G] NM_003777 DNAH11 EXON Missense_K3694E exm608810 7 21893993 [T/G] NM_003777 DNAH11 EXON Missense_V3715L exm2245436 7 21894011 [T/C] NM_003777 DNAH11 EXON Missense_L3721F exm608813 7 21894071 [A/C] NM_003777 DNAH11 EXON Missense_K3741Q exm608821 7 21901501 [A/G] NM_003777 DNAH11 EXON Missense_E3752K exm608822 7 21901517 [T/G] NM_003777 DNAH11 EXON Missense_V3757G exm2258271 7 21901517 [T/G] NM_003777 DNAH11 EXON Missense_V3757G exm608825 7 21901540 [T/C] NM_003777 DNAH11 EXON Missense_S3765P exm608826 7 21901545 [C/G] NM_003777 DNAH11 EXON Missense_I3766M exm608827 7 21901566 [T/C] NM_003777 DNAH11 EXON Synonymous_H3773H exm608828 7 21901593 [A/G] NM_003777 DNAH11 EXON Synonymous_A3782A exm608831 7 21904153 [A/G] NM_003777 DNAH11 EXON Missense_I3799V exm608835 7 21904197 [T/C] NM_003777 DNAH11 EXON Synonymous_F3813F exm608837 7 21904236 [T/C] NM_003777 DNAH11 EXON Synonymous_P3826P exm2146284 7 21906099 [G/C] NM_003777 DNAH11 EXON Synonymous_V3843V exm608845 7 21906245 [C/G] NM_003777 DNAH11 EXON Missense_R3892T exm608848 7 21907503 [A/C] NM_003777 DNAH11 EXON Missense_A3913E exm608851 7 21907591 [A/G] NM_003777 DNAH11 EXON Synonymous_P3942P exm608854 7 21908526 [A/G] NM_003777 DNAH11 EXON Missense_V3969M exm608866 7 21913098 [T/C] NM_003777 DNAH11 EXON Synonymous_A4065A exm608867 7 21913099 [A/G] NM_003777 DNAH11 EXON Missense_A4066T exm608870 7 21920412 [A/G] NM_003777 DNAH11 EXON Synonymous_R4103R exm608871 7 21920452 [A/C] NM_003777 DNAH11 EXON Missense_P4117T exm608873 7 21920494 [T/G] NM_003777 DNAH11 EXON Missense_L4131V exm608876 7 21924014 [A/G] NM_003777 DNAH11 EXON Missense_M4172V exm608877 7 21932044 [T/C] NM_003777 DNAH11 EXON Missense_T4177I exm608880 7 21932096 [T/G] NM_003777 DNAH11 EXON Missense_D4194E exm608882 7 21932136 [T/C] NM_003777 DNAH11 EXON Missense_P4208S exm608883 7 21932147 [T/G] NM_003777 DNAH11 EXON Synonymous_P4211P exm608896 7 21934511 [A/G] NM_003777 DNAH11 EXON Missense_A4322T exm608901 7 21939017 [A/G] NM_003777 DNAH11 EXON Synonymous_P4378P exm608902 7 21939032 [A/C] NM_003777 DNAH11 EXON Synonymous_L4383L exm608905 7 21939611 [G/C] NM_003777 DNAH11 EXON Synonymous_T4399T exm608913 7 21939692 [A/G] NM_003777 DNAH11 EXON Synonymous_G4426G exm608914 7 21939698 [G/C] NM_003777 DNAH11 EXON Synonymous_P4428P exm608917 7 21940626 [T/C] NM_003777,NM_001127370,NM_018719,NM_001127371 DNAH11,CDCA7L,CDCA7L,CDCA7L EXON Synonymous_G4442G,Silent,Silent,Silent exm608920 7 21940630 [T/C] NM_003777,NM_001127370,NM_018719,NM_001127371 DNAH11,CDCA7L,CDCA7L,CDCA7L EXON Missense_R4444C,Silent,Silent,Silent exm608923 7 21940695 [A/G] NM_003777,NM_001127370,NM_018719,NM_001127371 DNAH11,CDCA7L,CDCA7L,CDCA7L EXON Synonymous_P4465P,Silent,Silent,Silent exm608924 7 21940698 [T/C] NM_003777,NM_001127370,NM_018719,NM_001127371 DNAH11,CDCA7L,CDCA7L,CDCA7L EXON Synonymous_V4466V,Silent,Silent,Silent exm608926 7 21940720 [A/G] NM_003777,NM_001127370,NM_018719,NM_001127371 DNAH11,CDCA7L,CDCA7L,CDCA7L EXON Missense_V4474M,Silent,Silent,Silent exm608932 7 21940816 [A/G] NM_003777,NM_001127370,NM_018719,NM_001127371 DNAH11,CDCA7L,CDCA7L,CDCA7L EXON Missense_E4506K,Silent,Silent,Silent exm609007 7 21948001 [T/C] NM_001127370,NM_018719,NM_001127371 CDCA7L,CDCA7L,CDCA7L EXON Missense_R109Q,Missense_R143Q,Missense_R97Q exm2146345 7 21948010 [A/G] NM_001127370,NM_018719,NM_001127371 CDCA7L,CDCA7L,CDCA7L EXON Missense_I106T,Missense_I140T,Missense_I94T exm609014 7 21951353 [G/C] NM_001127370,NM_018719,NM_001127371 CDCA7L,CDCA7L,CDCA7L EXON Missense_S28C,Missense_S62C,Silent exm609015 7 21951363 [A/G] NM_001127370,NM_018719,NM_001127371 CDCA7L,CDCA7L,CDCA7L EXON Missense_R25C,Missense_R59C,Silent exm-rs1320800 7 21991532 [T/C] exm-rs1175000 7 22024040 [T/C] exm-rs10499559 7 22109459 [A/G] exm609032 7 22165242 [T/C] NM_012294 RAPGEF5 EXON Missense_H686R exm609050 7 22190106 [A/C] NM_012294 RAPGEF5 EXON Missense_Q448H exm609053 7 22194105 [T/C] NM_012294 RAPGEF5 EXON Missense_D432G exm609056 7 22194120 [T/C] NM_012294 RAPGEF5 EXON Missense_Q427R exm609071 7 22202046 [T/G] NM_012294 RAPGEF5 EXON Missense_P313H exm609078 7 22206691 [T/C] NM_012294 RAPGEF5 EXON Missense_R274K exm609086 7 22233069 [T/C] NM_012294 RAPGEF5 EXON Missense_V221M exm609110 7 22270505 [T/C] NM_012294 RAPGEF5 EXON Missense_H124R exm2270587 7 22397187 [T/C] exm609129 7 22478374 [T/C] NM_207342,NM_001164460 STEAP1B,STEAP1B EXON Silent,Missense_A255T exm-rs17364464 7 22514053 [A/G] NM_207342,NM_001164460 STEAP1B,STEAP1B Silent,Silent exm609134 7 22532954 [T/C] NM_207342,NM_001164460 STEAP1B,STEAP1B EXON Missense_A177T,Missense_A196T exm609136 7 22532971 [T/A] NM_207342,NM_001164460 STEAP1B,STEAP1B EXON Missense_Y171F,Missense_Y190F exm609141 7 22533033 [C/G] NM_207342,NM_001164460 STEAP1B,STEAP1B EXON Missense_L150F,Missense_L169F exm609147 7 22533259 [A/C] NM_207342,NM_001164460 STEAP1B,STEAP1B EXON Missense_V75G,Missense_V94G exm609148 7 22533338 [A/C] NM_207342,NM_001164460 STEAP1B,STEAP1B EXON Missense_F49V,Missense_F68V exm609150 7 22533356 [A/G] NM_207342,NM_001164460 STEAP1B,STEAP1B EXON Nonsense_Q43X,Nonsense_Q62X exm609163 7 22767134 [A/C] NM_000600 IL6 EXON Missense_P31T exm609164 7 22767137 [T/C] NM_000600 IL6 EXON Missense_P32S exm2245442 7 22767206 [A/G] NM_000600 IL6 EXON Missense_K55E exm609178 7 22771038 [T/A] NM_000600 IL6 EXON Missense_D162V exm609179 7 22771039 [A/T] NM_000600 IL6 EXON Missense_D162E exm609194 7 22857633 [T/G] NM_019059 TOMM7 EXON Missense_E46D exm609204 7 22862367 [C/G] NM_019059 TOMM7 EXON Missense_R11T exm2270588 7 22874770 [T/C] exm2264258 7 22908774 [A/C] exm609215 7 22985219 [A/G] NM_032581 FAM126A EXON Missense_S519P exm2245448 7 22985242 [A/G] NM_032581 FAM126A EXON Missense_P511L exm609216 7 22985255 [G/C] NM_032581 FAM126A EXON Missense_G507R exm609218 7 22985282 [T/C] NM_032581 FAM126A EXON Missense_T498A exm609219 7 22985294 [T/C] NM_032581 FAM126A EXON Missense_V494I exm609223 7 22985359 [T/C] NM_032581 FAM126A EXON Missense_C472Y exm2146464 7 22985435 [T/C] NM_032581 FAM126A EXON Missense_A447T exm609234 7 22985689 [A/G] NM_032581 FAM126A EXON Missense_S362L exm609238 7 22985710 [A/G] NM_032581 FAM126A EXON Missense_A355V exm609244 7 22999898 [T/C] NM_032581 FAM126A EXON Missense_R323K exm609254 7 23000919 [G/C] NM_032581 FAM126A EXON Missense_A256P exm2146472 7 23004127 [T/C] NM_032581 FAM126A EXON Missense_R217Q exm609277 7 23017959 [A/C] NM_032581 FAM126A EXON Missense_A88S exm609279 7 23018030 [T/C] NM_032581 FAM126A EXON Missense_Y64C exm609299 7 23163416 [C/G] NR_033329,NR_033328,NM_001031710,NM_001172428,NM_018846 KLHL7,KLHL7,KLHL7,KLHL7,KLHL7 EXON Silent,Silent,Missense_I47M,Missense_I47M,Silent exm609350 7 23221811 [A/G] NM_007342 NUPL2 EXON Missense_Q36R exm609359 7 23224734 [A/G] NM_007342 NUPL2 EXON Missense_N56S exm609361 7 23224752 [G/C] NM_007342 NUPL2 EXON Missense_S62T exm609366 7 23224848 [T/G] NM_007342 NUPL2 EXON Missense_G94V exm609369 7 23226691 [T/C] NM_007342 NUPL2 EXON Missense_M124T exm609376 7 23235458 [T/G] NM_007342 NUPL2 EXON Missense_G149V exm609377 7 23235469 [A/G] NM_007342 NUPL2 EXON Missense_I153V exm2258275 7 23235483 [A/G] NM_007342 NUPL2 EXON Synonymous_E157E exm609378 7 23235483 [A/G] NM_007342 NUPL2 EXON Synonymous_E157E exm609380 7 23235533 [A/G] NM_007342 NUPL2 EXON Missense_Y174C exm609408 7 23240033 [T/C] NM_007342 NUPL2 EXON Missense_P314L exm609410 7 23240102 [A/G] NM_007342 NUPL2 EXON Missense_G337E exm609415 7 23240138 [A/G] NM_007342 NUPL2 EXON Missense_G349D exm609418 7 23240263 [A/G] NM_007342 NUPL2 EXON Missense_D391N exm609419 7 23240268 [A/T] NM_007342 NUPL2 EXON Missense_K392N exm609420 7 23240353 [A/C] NM_007342 NUPL2 EXON Missense_L421I exm609421 7 23286486 [T/C] NM_002510,NM_001005340 GPNMB,GPNMB EXON Missense_L4F,Missense_L4F exm609425 7 23286529 [T/C] NM_002510,NM_001005340 GPNMB,GPNMB EXON Missense_P18L,Missense_P18L exm609436 7 23293788 [A/G] NM_002510,NM_001005340 GPNMB,GPNMB EXON Missense_G75E,Missense_G75E exm609437 7 23293790 [T/G] NM_002510,NM_001005340 GPNMB,GPNMB EXON Missense_G76C,Missense_G76C exm2274225 7 23293854 [T/C] NM_002510,NM_001005340 GPNMB,GPNMB EXON Missense_A97V,Missense_A97V exm609450 7 23296564 [T/G] NM_002510,NM_001005340 GPNMB,GPNMB EXON Missense_D141Y,Missense_D141Y exm609452 7 23296573 [A/G] NM_002510,NM_001005340 GPNMB,GPNMB EXON Missense_G144R,Missense_G144R exm609457 7 23296669 [A/G] NM_002510,NM_001005340 GPNMB,GPNMB EXON Missense_V176I,Missense_V176I exm609462 7 23299676 [T/C] NM_002510,NM_001005340 GPNMB,GPNMB EXON Missense_L207F,Missense_L207F exm609465 7 23299727 [A/G] NM_002510,NM_001005340 GPNMB,GPNMB EXON Missense_A224T,Missense_A224T exm2146590 7 23300116 [T/C] NM_002510,NM_001005340 GPNMB,GPNMB EXON Nonsense_R248X,Nonsense_R248X exm609476 7 23300128 [A/G] NM_002510,NM_001005340 GPNMB,GPNMB EXON Missense_D252N,Missense_D252N exm609477 7 23300162 [T/C] NM_002510,NM_001005340 GPNMB,GPNMB EXON Missense_F263S,Missense_F263S exm609480 7 23300250 [T/G] NM_002510,NM_001005340 GPNMB,GPNMB EXON Missense_F292L,Missense_F292L exm609481 7 23300255 [T/C] NM_002510,NM_001005340 GPNMB,GPNMB EXON Missense_S294F,Missense_S294F exm2245457 7 23300342 [C/G] NM_002510,NM_001005340 GPNMB,GPNMB EXON Missense_C323S,Missense_C323S exm609485 7 23300345 [T/C] NM_002510,NM_001005340 GPNMB,GPNMB EXON Missense_P324L,Missense_P324L exm609493 7 23306141 [A/G] NM_002510,NM_001005340 GPNMB,GPNMB EXON Missense_A342T,Missense_A354T exm609501 7 23307591 [A/G] NM_002510,NM_001005340 GPNMB,GPNMB EXON Missense_V402M,Missense_V414M exm609502 7 23309594 [T/C] NM_002510,NM_001005340 GPNMB,GPNMB EXON Missense_T410M,Missense_T422M exm609520 7 23313199 [A/G] NM_002510,NM_001005340 GPNMB,GPNMB EXON Missense_I497V,Missense_I509V exm609521 7 23313217 [T/C] NM_002510,NM_001005340 GPNMB,GPNMB EXON Missense_S503P,Missense_S515P exm609524 7 23313706 [A/G] NM_002510,NM_001005340 GPNMB,GPNMB EXON Missense_I516V,Missense_I528V exm609527 7 23313738 [A/C] NM_002510,NM_001005340 GPNMB,GPNMB EXON Missense_S526R,Missense_S538R exm609529 7 23313763 [T/C] NM_002510,NM_001005340 GPNMB,GPNMB EXON Missense_R535C,Missense_R547C exm609534 7 23313823 [T/G] NM_002510,NM_001005340 GPNMB,GPNMB EXON Nonsense_E555X,Nonsense_E567X exm609536 7 23338972 [A/G] NM_138446 MALSU1 EXON Missense_M1V exm609537 7 23338981 [C/G] NM_138446 MALSU1 EXON Missense_G4R exm609550 7 23340488 [T/C] NM_138446 MALSU1 EXON Missense_M96T exm609573 7 23349021 [T/G] NM_138446 MALSU1 EXON Nonsense_Y188X exm609575 7 23349047 [A/G] NM_138446 MALSU1 EXON Missense_R197H exm609588 7 23352431 [T/C] NM_006547 IGF2BP3 EXON Missense_V522I exm609594 7 23353246 [A/C] NM_006547 IGF2BP3 EXON Missense_I474M exm609611 7 23381693 [A/G] NM_006547 IGF2BP3 EXON Missense_P398L exm609615 7 23383339 [T/C] NM_006547 IGF2BP3 EXON Missense_N359D exm609618 7 23383437 [A/G] NM_006547 IGF2BP3 EXON Missense_T326I exm2264259 7 23420767 [A/C] NM_006547 IGF2BP3 Silent exm-rs12534093 7 23502974 [A/T] NM_006547 IGF2BP3 Silent exm609658 7 23545391 [T/C] NM_013293 TRA2A EXON Missense_R271Q exm609682 7 23556079 [T/C] NM_013293 TRA2A EXON Missense_R80K exm609691 7 23561416 [T/C] NM_013293 TRA2A EXON Missense_R27H exm609709 7 23682628 [A/G] NM_138771 CCDC126 EXON Missense_Y106C exm609723 7 23724197 [T/C] NM_001127364,NM_001127365,NM_199136 FAM221A,FAM221A,FAM221A EXON Missense_R49C,Silent,Missense_R49C exm609728 7 23728916 [A/G] NM_001127364,NM_001127365,NM_199136 FAM221A,FAM221A,FAM221A EXON Missense_A90T,Missense_A32T,Missense_A90T exm609729 7 23728923 [T/C] NM_001127364,NM_001127365,NM_199136 FAM221A,FAM221A,FAM221A EXON Missense_P92L,Missense_P34L,Missense_P92L exm609730 7 23728931 [T/C] NM_001127364,NM_001127365,NM_199136 FAM221A,FAM221A,FAM221A EXON Missense_C95R,Missense_C37R,Missense_C95R exm609732 7 23728952 [G/C] NM_001127364,NM_001127365,NM_199136 FAM221A,FAM221A,FAM221A EXON Missense_Q102E,Missense_Q44E,Missense_Q102E exm609738 7 23729016 [A/G] NM_001127364,NM_001127365,NM_199136 FAM221A,FAM221A,FAM221A EXON Missense_R123H,Missense_R65H,Missense_R123H exm609746 7 23729075 [A/G] NM_001127364,NM_001127365,NM_199136 FAM221A,FAM221A,FAM221A EXON Missense_T143A,Missense_T85A,Missense_T143A exm609748 7 23731108 [T/C] NM_001127364,NM_001127365,NM_199136 FAM221A,FAM221A,FAM221A EXON Missense_A177V,Missense_A119V,Missense_A177V exm609750 7 23731118 [A/T] NM_001127364,NM_001127365,NM_199136 FAM221A,FAM221A,FAM221A EXON Missense_K180N,Missense_K122N,Missense_K180N exm2146681 7 23731156 [G/C] NM_001127364,NM_001127365,NM_199136 FAM221A,FAM221A,FAM221A EXON Missense_G193A,Missense_G135A,Missense_G193A exm609753 7 23731174 [T/C] NM_001127364,NM_001127365,NM_199136 FAM221A,FAM221A,FAM221A EXON Missense_S199L,Missense_S141L,Missense_S199L exm609764 7 23737891 [A/G] NM_001127364,NM_001127365,NM_199136 FAM221A,FAM221A,FAM221A EXON Silent,Silent,Missense_S240G exm609767 7 23740403 [A/G] NM_001127364,NM_001127365,NM_199136 FAM221A,FAM221A,FAM221A Silent,Silent,Silent exm2245461 7 23740435 [A/G] NM_001127364,NM_001127365,NM_199136 FAM221A,FAM221A,FAM221A EXON Missense_R223K,Missense_R165K,Missense_R259K exm2146685 7 23740440 [A/C] NM_001127364,NM_001127365,NM_199136 FAM221A,FAM221A,FAM221A EXON Missense_P225T,Missense_P167T,Missense_P261T exm609776 7 23741775 [A/C] NM_001127364,NM_001127365,NM_199136 FAM221A,FAM221A,FAM221A EXON Missense_P261T,Missense_P203T,Missense_P297T exm609783 7 23749905 [A/T] NR_048542,NM_001260505,NM_031414 STK31,STK31,STK31 EXON Silent,Missense_M1L,Missense_M1L exm609798 7 23757107 [A/G] NR_048542,NM_001260505,NM_031414,NM_001260504,NM_032944 STK31,STK31,STK31,STK31,STK31 EXON Silent,Missense_N53S,Missense_N53S,Missense_N30S,Missense_N30S exm609801 7 23757162 [C/G] NR_048542,NM_001260505,NM_031414,NM_001260504,NM_032944 STK31,STK31,STK31,STK31,STK31 EXON Silent,Missense_Q71H,Missense_Q71H,Missense_Q48H,Missense_Q48H exm609803 7 23766924 [A/G] NR_048542,NM_001260505,NM_031414,NM_001260504,NM_032944 STK31,STK31,STK31,STK31,STK31 EXON Silent,Missense_S105N,Missense_S105N,Missense_S82N,Missense_S82N exm2245462 7 23768759 [T/C] NR_048542,NM_001260505,NM_031414,NM_001260504,NM_032944 STK31,STK31,STK31,STK31,STK31 EXON Silent,Missense_S125F,Missense_S125F,Missense_S102F,Missense_S102F exm609812 7 23775220 [T/A] NR_048542,NM_001260505,NM_031414,NM_001260504,NM_032944 STK31,STK31,STK31,STK31,STK31 EXON Silent,Missense_S183T,Missense_S183T,Missense_S160T,Missense_S160T exm609816 7 23775454 [A/G] NR_048542,NM_001260505,NM_031414,NM_001260504,NM_032944 STK31,STK31,STK31,STK31,STK31 EXON Silent,Missense_E261K,Missense_E261K,Missense_E238K,Missense_E238K exm609818 7 23775477 [T/G] NR_048542,NM_001260505,NM_031414,NM_001260504,NM_032944 STK31,STK31,STK31,STK31,STK31 EXON Silent,Missense_K268N,Missense_K268N,Missense_K245N,Missense_K245N exm609821 7 23776554 [C/G] NR_048542,NM_001260505,NM_031414,NM_001260504,NM_032944 STK31,STK31,STK31,STK31,STK31 EXON Silent,Missense_G292R,Missense_G292R,Missense_G269R,Missense_G269R exm609829 7 23793953 [T/C] NR_048542,NM_001260505,NM_031414,NM_001260504,NM_032944 STK31,STK31,STK31,STK31,STK31 EXON Silent,Missense_R385C,Missense_R385C,Missense_R362C,Missense_R362C exm609833 7 23793980 [A/G] NR_048542,NM_001260505,NM_031414,NM_001260504,NM_032944 STK31,STK31,STK31,STK31,STK31 EXON Silent,Missense_I394V,Missense_I394V,Missense_I371V,Missense_I371V exm609834 7 23794029 [A/G] NR_048542,NM_001260505,NM_031414,NM_001260504,NM_032944 STK31,STK31,STK31,STK31,STK31 EXON Silent,Missense_G410E,Missense_G410E,Missense_G387E,Missense_G387E exm609839 7 23802463 [A/G] NR_048542,NM_001260505,NM_031414,NM_001260504,NM_032944 STK31,STK31,STK31,STK31,STK31 EXON Silent,Missense_Q446R,Missense_Q446R,Missense_Q423R,Missense_Q423R exm609844 7 23802525 [T/C] NR_048542,NM_001260505,NM_031414,NM_001260504,NM_032944 STK31,STK31,STK31,STK31,STK31 EXON Silent,Missense_R467C,Missense_R467C,Missense_R444C,Missense_R444C exm609847 7 23808633 [A/G] NR_048542,NM_001260505,NM_031414,NM_001260504,NM_032944 STK31,STK31,STK31,STK31,STK31 EXON Silent,Missense_E479G,Missense_E479G,Missense_E456G,Missense_E456G exm2245464 7 23808662 [C/G] NR_048542,NM_001260505,NM_031414,NM_001260504,NM_032944 STK31,STK31,STK31,STK31,STK31 EXON Silent,Missense_A489P,Missense_A489P,Missense_A466P,Missense_A466P exm609848 7 23808680 [G/C] NR_048542,NM_001260505,NM_031414,NM_001260504,NM_032944 STK31,STK31,STK31,STK31,STK31 EXON Silent,Missense_L495V,Missense_L495V,Missense_L472V,Missense_L472V exm609850 7 23808726 [T/C] NR_048542,NM_001260505,NM_031414,NM_001260504,NM_032944 STK31,STK31,STK31,STK31,STK31 EXON Silent,Missense_T510I,Missense_T510I,Missense_T487I,Missense_T487I exm609851 7 23808749 [A/G] NR_048542,NM_001260505,NM_031414,NM_001260504,NM_032944 STK31,STK31,STK31,STK31,STK31 EXON Silent,Missense_A518T,Missense_A518T,Missense_A495T,Missense_A495T exm609855 7 23809274 [A/G] NR_048542,NM_001260505,NM_031414,NM_001260504,NM_032944 STK31,STK31,STK31,STK31,STK31 EXON Silent,Missense_V538M,Missense_V538M,Missense_V515M,Missense_V515M exm609861 7 23810664 [A/G] NR_048542,NM_001260505,NM_031414,NM_001260504,NM_032944 STK31,STK31,STK31,STK31,STK31 EXON Silent,Missense_Y585C,Missense_Y585C,Missense_Y562C,Missense_Y562C exm609865 7 23810708 [A/G] NR_048542,NM_001260505,NM_031414,NM_001260504,NM_032944 STK31,STK31,STK31,STK31,STK31 EXON Silent,Missense_A600T,Missense_A600T,Missense_A577T,Missense_A577T exm609866 7 23810739 [T/C] NR_048542,NM_001260505,NM_031414,NM_001260504,NM_032944 STK31,STK31,STK31,STK31,STK31 EXON Silent,Missense_I610T,Missense_I610T,Missense_I587T,Missense_I587T exm609871 7 23811795 [T/G] NR_048542,NM_001260505,NM_031414,NM_001260504,NM_032944 STK31,STK31,STK31,STK31,STK31 EXON Silent,Missense_N621K,Missense_N621K,Missense_N598K,Missense_N598K exm609872 7 23811800 [T/G] NR_048542,NM_001260505,NM_031414,NM_001260504,NM_032944 STK31,STK31,STK31,STK31,STK31 EXON Silent,Missense_S623I,Missense_S623I,Missense_S600I,Missense_S600I exm609877 7 23821099 [A/G] NR_048542,NM_001260505,NM_031414,NM_001260504,NM_032944 STK31,STK31,STK31,STK31,STK31 EXON Silent,Missense_N676S,Missense_N676S,Missense_N653S,Missense_N653S exm609879 7 23821123 [A/G] NR_048542,NM_001260505,NM_031414,NM_001260504,NM_032944 STK31,STK31,STK31,STK31,STK31 EXON Silent,Missense_H684R,Missense_H684R,Missense_H661R,Missense_H661R exm609886 7 23826131 [A/C] NR_048542,NM_001260505,NM_031414,NM_001260504,NM_032944 STK31,STK31,STK31,STK31,STK31 EXON Silent,Missense_Y760S,Missense_Y760S,Missense_Y737S,Missense_Y737S exm609887 7 23826190 [A/G] NR_048542,NM_001260505,NM_031414,NM_001260504,NM_032944 STK31,STK31,STK31,STK31,STK31 EXON Silent,Missense_A780T,Missense_A780T,Missense_A757T,Missense_A757T exm609897 7 23827618 [A/G] NR_048542,NM_001260505,NM_031414,NM_001260504,NM_032944 STK31,STK31,STK31,STK31,STK31 EXON Silent,Missense_K836R,Missense_K836R,Missense_K813R,Missense_K813R exm609917 7 23871756 [A/G] NR_048542,NM_001260505,NM_031414,NM_001260504,NM_032944 STK31,STK31,STK31,STK31,STK31 EXON Silent,Missense_D921G,Missense_D944G,Missense_D921G,Missense_D921G exm609920 7 23871806 [A/G] NR_048542,NM_001260505,NM_031414,NM_001260504,NM_032944 STK31,STK31,STK31,STK31,STK31 EXON Silent,Missense_M938V,Missense_M961V,Missense_M938V,Missense_M938V exm609923 7 23871861 [C/G] NR_048542,NM_001260505,NM_031414,NM_001260504,NM_032944 STK31,STK31,STK31,STK31,STK31 EXON Silent,Nonsense_S956X,Nonsense_S979X,Nonsense_S956X,Nonsense_S956X exm609927 7 23871944 [A/T] NR_048542,NM_001260505,NM_031414,NM_001260504,NM_032944 STK31,STK31,STK31,STK31,STK31 EXON Silent,Missense_M984L,Missense_M1007L,Missense_M984L,Missense_M984L exm609928 7 23871951 [A/C] NR_048542,NM_001260505,NM_031414,NM_001260504,NM_032944 STK31,STK31,STK31,STK31,STK31 EXON Silent,Missense_K986T,Missense_K1009T,Missense_K986T,Missense_K986T exm2245467 7 23871953 [T/A] NR_048542,NM_001260505,NM_031414,NM_001260504,NM_032944 STK31,STK31,STK31,STK31,STK31 EXON Silent,Missense_T987S,Missense_T1010S,Missense_T987S,Missense_T987S exm609933 7 24324879 [T/C] NM_000905 NPY EXON Missense_L7P exm609942 7 24331299 [T/C] NM_000905 NPY EXON Missense_M96T exm2258278 7 24355660 [T/C] exm609961 7 24689304 [A/G] NM_016447 MPP6 EXON Missense_N115S exm609962 7 24689312 [A/G] NM_016447 MPP6 EXON Missense_I118V exm-rs2721800 7 24692552 [C/G] NM_016447 MPP6 Silent exm2274226 7 24703246 [A/G] NM_016447 MPP6 EXON Missense_N230S exm609983 7 24708183 [A/T] NM_016447 MPP6 EXON Missense_T340S exm2245471 7 24708184 [T/C] NM_016447 MPP6 EXON Missense_T340I exm610005 7 24727220 [T/G] NM_016447 MPP6 EXON Missense_S537I exm610017 7 24738802 [T/A] NM_001127453,NM_004403,NM_001127454 DFNA5,DFNA5,DFNA5 EXON Missense_F445Y,Missense_F445Y,Missense_F281Y exm610026 7 24742437 [A/G] NM_001127453,NM_004403,NM_001127454 DFNA5,DFNA5,DFNA5 EXON Missense_A400V,Missense_A400V,Missense_A236V exm610027 7 24742438 [T/C] NM_001127453,NM_004403,NM_001127454 DFNA5,DFNA5,DFNA5 EXON Missense_A400T,Missense_A400T,Missense_A236T exm610028 7 24742444 [T/C] NM_001127453,NM_004403,NM_001127454 DFNA5,DFNA5,DFNA5 EXON Missense_D398N,Missense_D398N,Missense_D234N exm610038 7 24745868 [T/C] NM_001127453,NM_004403,NM_001127454 DFNA5,DFNA5,DFNA5 EXON Missense_G373D,Missense_G373D,Missense_G209D exm610056 7 24747802 [T/C] NM_001127453,NM_004403,NM_001127454 DFNA5,DFNA5,DFNA5 EXON Missense_D312N,Missense_D312N,Missense_D148N exm610063 7 24747872 [T/C] NM_001127453,NM_004403,NM_001127454 DFNA5,DFNA5,DFNA5 EXON Synonymous_A288A,Synonymous_A288A,Synonymous_A124A exm2276789 7 24747873 [A/G] NM_001127453,NM_004403,NM_001127454 DFNA5,DFNA5,DFNA5 EXON Missense_A288V,Missense_A288V,Missense_A124V exm610068 7 24749882 [T/C] NM_001127453,NM_004403,NM_001127454 DFNA5,DFNA5,DFNA5 EXON Missense_I275V,Missense_I275V,Missense_I111V exm610074 7 24749993 [A/G] NM_001127453,NM_004403,NM_001127454 DFNA5,DFNA5,DFNA5 EXON Nonsense_R238X,Nonsense_R238X,Nonsense_R74X exm610087 7 24756912 [T/C] NM_001127453,NM_004403,NM_001127454 DFNA5,DFNA5,DFNA5 EXON Missense_G220S,Missense_G220S,Missense_G56S exm610089 7 24756935 [A/G] NM_001127453,NM_004403,NM_001127454 DFNA5,DFNA5,DFNA5 EXON Missense_P212L,Missense_P212L,Missense_P48L exm610090 7 24756951 [T/C] NM_001127453,NM_004403,NM_001127454 DFNA5,DFNA5,DFNA5 EXON Missense_V207M,Missense_V207M,Missense_V43M exm610100 7 24758721 [A/G] NM_001127453,NM_004403,NM_001127454 DFNA5,DFNA5,DFNA5 EXON Missense_M174T,Missense_M174T,Missense_M10T exm610111 7 24758818 [T/G] NM_001127453,NM_004403,NM_001127454 DFNA5,DFNA5,DFNA5 EXON Missense_P142T,Missense_P142T,Silent exm610117 7 24784260 [T/C] NM_001127453,NM_004403,NM_001127454 DFNA5,DFNA5,DFNA5 EXON Missense_V109I,Missense_V109I,Silent exm610126 7 24789215 [T/C] NM_001127453,NM_004403,NM_001127454 DFNA5,DFNA5,DFNA5 EXON Missense_D60G,Missense_D60G,Silent exm2146872 7 24839822 [C/G] NM_015550,NM_145320,NM_145321,NM_145322 OSBPL3,OSBPL3,OSBPL3,OSBPL3 EXON Missense_D882H,Missense_D851H,Missense_D846H,Missense_D815H exm610147 7 24839891 [T/C] NM_015550,NM_145320,NM_145321,NM_145322 OSBPL3,OSBPL3,OSBPL3,OSBPL3 EXON Missense_D859N,Missense_D828N,Missense_D823N,Missense_D792N exm610157 7 24846501 [T/C] NM_015550,NM_145320,NM_145321,NM_145322 OSBPL3,OSBPL3,OSBPL3,OSBPL3 EXON Missense_E780K,Missense_E749K,Missense_E744K,Missense_E713K exm610163 7 24849479 [T/C] NM_015550,NM_145320,NM_145321,NM_145322 OSBPL3,OSBPL3,OSBPL3,OSBPL3 EXON Missense_H755R,Missense_H724R,Missense_H719R,Missense_H688R exm610166 7 24849512 [T/C] NM_015550,NM_145320,NM_145321,NM_145322 OSBPL3,OSBPL3,OSBPL3,OSBPL3 EXON Missense_G744E,Missense_G713E,Missense_G708E,Missense_G677E exm610170 7 24854764 [T/C] NM_015550,NM_145320,NM_145321,NM_145322 OSBPL3,OSBPL3,OSBPL3,OSBPL3 EXON Missense_G696R,Missense_G665R,Missense_G660R,Missense_G629R exm610173 7 24856230 [C/G] NM_015550,NM_145320,NM_145321,NM_145322 OSBPL3,OSBPL3,OSBPL3,OSBPL3 EXON Missense_V676L,Missense_V645L,Missense_V640L,Missense_V609L exm2258279 7 24866690 [T/C] NM_015550,NM_145320,NM_145321,NM_145322 OSBPL3,OSBPL3,OSBPL3,OSBPL3 Silent,Silent,Silent,Silent exm610196 7 24874298 [A/G] NM_015550,NM_145320,NM_145321,NM_145322 OSBPL3,OSBPL3,OSBPL3,OSBPL3 EXON Missense_A518V,Missense_A487V,Missense_A482V,Missense_A451V exm610199 7 24874328 [A/G] NM_015550,NM_145320,NM_145321,NM_145322 OSBPL3,OSBPL3,OSBPL3,OSBPL3 EXON Missense_A508V,Missense_A477V,Missense_A472V,Missense_A441V exm610210 7 24892134 [T/C] NM_015550,NM_145320,NM_145321,NM_145322 OSBPL3,OSBPL3,OSBPL3,OSBPL3 EXON Missense_A383T,Missense_A352T,Missense_A383T,Missense_A352T exm610214 7 24892221 [T/C] NM_015550,NM_145320,NM_145321,NM_145322 OSBPL3,OSBPL3,OSBPL3,OSBPL3 EXON Missense_M354V,Missense_M323V,Missense_M354V,Missense_M323V exm610222 7 24902859 [T/C] NM_015550,NM_145320,NM_145321,NM_145322 OSBPL3,OSBPL3,OSBPL3,OSBPL3 EXON Missense_R277Q,Silent,Missense_R277Q,Silent exm610225 7 24902911 [T/C] NM_015550,NM_145320,NM_145321,NM_145322 OSBPL3,OSBPL3,OSBPL3,OSBPL3 EXON Missense_G260S,Silent,Missense_G260S,Silent exm610231 7 24903159 [T/C] NM_015550,NM_145320,NM_145321,NM_145322 OSBPL3,OSBPL3,OSBPL3,OSBPL3 EXON Missense_V245I,Missense_V245I,Missense_V245I,Missense_V245I exm610237 7 24903212 [A/G] NM_015550,NM_145320,NM_145321,NM_145322 OSBPL3,OSBPL3,OSBPL3,OSBPL3 EXON Missense_A227V,Missense_A227V,Missense_A227V,Missense_A227V exm610253 7 24905778 [T/C] NM_015550,NM_145320,NM_145321,NM_145322 OSBPL3,OSBPL3,OSBPL3,OSBPL3 EXON Missense_M154V,Missense_M154V,Missense_M154V,Missense_M154V exm610254 7 24905795 [T/C] NM_015550,NM_145320,NM_145321,NM_145322 OSBPL3,OSBPL3,OSBPL3,OSBPL3 EXON Missense_R148H,Missense_R148H,Missense_R148H,Missense_R148H exm610264 7 24911404 [T/C] NM_015550,NM_145320,NM_145321,NM_145322 OSBPL3,OSBPL3,OSBPL3,OSBPL3 EXON Missense_Y75C,Missense_Y75C,Missense_Y75C,Missense_Y75C exm2275938 7 24911659 [G/C] NM_015550,NM_145320,NM_145321,NM_145322 OSBPL3,OSBPL3,OSBPL3,OSBPL3 EXON Missense_R42S,Missense_R42S,Missense_R42S,Missense_R42S exm610269 7 24932027 [T/C] NM_015550,NM_145320,NM_145321,NM_145322 OSBPL3,OSBPL3,OSBPL3,OSBPL3 EXON Missense_S22N,Missense_S22N,Missense_S22N,Missense_S22N exm610286 7 25175698 [A/G] NM_138811 C7orf31 EXON Missense_R556C exm610287 7 25175739 [A/G] NM_138811 C7orf31 EXON Missense_L542P exm610290 7 25175788 [T/G] NM_138811 C7orf31 EXON Missense_L526I exm610292 7 25175857 [A/G] NM_138811 C7orf31 EXON Missense_H503Y exm2146930 7 25175862 [A/G] NM_138811 C7orf31 EXON Missense_L501S exm610296 7 25175943 [T/G] NM_138811 C7orf31 EXON Missense_Q474P exm2146931 7 25175950 [A/G] NM_138811 C7orf31 EXON Missense_R472C exm610300 7 25175962 [T/G] NM_138811 C7orf31 EXON Missense_K468Q exm610303 7 25176065 [T/C] NM_138811 C7orf31 EXON Synonymous_T433T exm2258281 7 25176065 [T/C] NM_138811 C7orf31 EXON Synonymous_T433T exm610305 7 25176115 [T/C] NM_138811 C7orf31 EXON Missense_T417A exm610307 7 25176147 [A/G] NM_138811 C7orf31 EXON Missense_L406P exm610309 7 25176169 [T/G] NM_138811 C7orf31 EXON Missense_I399L exm610311 7 25176205 [A/C] NM_138811 C7orf31 EXON Missense_G387C exm610312 7 25176226 [A/G] NM_138811 C7orf31 EXON Missense_L380F exm610313 7 25176288 [T/C] NM_138811 C7orf31 EXON Missense_C359Y exm610314 7 25176339 [T/C] NM_138811 C7orf31 EXON Missense_R342Q exm610315 7 25176355 [A/G] NM_138811 C7orf31 EXON Nonsense_R337X exm610317 7 25181861 [A/G] NM_138811 C7orf31 EXON Missense_P317L exm610320 7 25181912 [T/C] NM_138811 C7orf31 EXON Missense_H300R exm610334 7 25182373 [T/C] NM_138811 C7orf31 EXON Missense_A249T exm610339 7 25182405 [T/G] NM_138811 C7orf31 EXON Missense_P238Q exm610354 7 25194753 [T/C] NM_138811 C7orf31 EXON Missense_A158T exm610356 7 25194759 [A/G] NM_138811 C7orf31 EXON Missense_R156C exm610359 7 25194789 [T/C] NM_138811 C7orf31 EXON Missense_I146V exm610371 7 25207924 [T/C] NM_138811 C7orf31 EXON Missense_G99R exm610372 7 25207957 [T/C] NM_138811 C7orf31 EXON Missense_M88V exm610373 7 25207963 [A/G] NM_138811 C7orf31 EXON Missense_R86C exm610374 7 25207974 [T/C] NM_138811 C7orf31 EXON Missense_Y82C exm610382 7 25218810 [T/C] NM_138811 C7orf31 EXON Missense_T40A exm610406 7 25266423 [T/C] NM_022150 NPVF EXON Missense_V121M exm610412 7 25266560 [A/G] NM_022150 NPVF EXON Missense_T75I exm610416 7 25267934 [T/C] NM_022150 NPVF EXON Missense_D42G exm610417 7 25267963 [G/C] NM_022150 NPVF EXON Missense_I32M exm2270734 7 25316682 [T/C] exm2266384 7 25563961 [A/G] exm-rs17151904 7 25608409 [A/G] exm2258282 7 25687828 [A/G] exm-rs1055144 7 25871109 [T/C] exm-rs12700667 7 25901639 [A/G] exm-rs4722551 7 25991826 [T/C] exm-rs4719841 7 25997536 [A/G] exm610465 7 26224250 [A/G] NM_004289 NFE2L3 EXON Missense_Q311R exm610473 7 26224356 [A/T] NM_004289 NFE2L3 EXON Missense_N346K exm2147104 7 26224439 [A/G] NM_004289 NFE2L3 EXON Missense_N374S exm610486 7 26224637 [G/C] NM_004289 NFE2L3 EXON Missense_S440C exm610503 7 26224829 [G/C] NM_004289 NFE2L3 EXON Missense_P504R exm2147111 7 26224894 [A/G] NM_004289 NFE2L3 EXON Missense_R526G exm2245487 7 26224925 [T/G] NM_004289 NFE2L3 EXON Missense_S536I exm610537 7 26225179 [A/G] NM_004289 NFE2L3 EXON Missense_K621E exm610550 7 26232150 [T/C] NM_002137,NM_031243 HNRNPA2B1,HNRNPA2B1 EXON Missense_R338G,Missense_R350G exm610575 7 26236069 [T/C] NM_002137,NM_031243 HNRNPA2B1,HNRNPA2B1 EXON Missense_G204S,Missense_G216S exm610617 7 26245994 [A/G] NM_007276,NM_016587 CBX3,CBX3 EXON Missense_M11V,Missense_M11V exm2264236 7 26385004 [A/C] NM_013322,NR_037670,NM_001199835 SNX10,SNX10,SNX10 Silent,Silent,Silent exm610640 7 26400590 [T/C] NM_013322,NR_037670,NM_001199835,NM_001199837 SNX10,SNX10,SNX10,SNX10 EXON Silent,Silent,Silent,Missense_L4S exm610649 7 26411572 [A/C] NM_013322,NR_037670,NM_001199835,NM_001199837,NM_001199838 SNX10,SNX10,SNX10,SNX10,SNX10 EXON Missense_K148T,Silent,Missense_K148T,Missense_K145T,Missense_K64T exm610654 7 26412179 [T/C] NM_013322,NR_037670,NM_001199835,NM_001199837,NM_001199838 SNX10,SNX10,SNX10,SNX10,SNX10 EXON Missense_P198L,Silent,Missense_P198L,Missense_P195L,Missense_P114L exm-rs886716 7 26557618 [A/G] exm2266386 7 26608284 [A/G] exm610667 7 26678881 [A/G] NM_001145531 C7orf71 EXON Missense_G40S exm610668 7 26678899 [A/G] NM_001145531 C7orf71 EXON Missense_E46K exm610673 7 26685929 [A/G] NM_001145531 C7orf71 EXON Missense_A94T exm2262293 7 26688808 [T/C] exm610684 7 26709790 [A/C] NM_003930 SKAP2 EXON Missense_W337G exm610693 7 26765085 [C/G] NM_003930 SKAP2 EXON Missense_S253T exm610698 7 26765596 [A/C] NM_003930 SKAP2 EXON Missense_A202S exm610717 7 26883735 [T/C] NM_003930 SKAP2 EXON Missense_E74G exm-rs7804356 7 26891665 [T/C] NM_003930 SKAP2 Silent exm610720 7 26894430 [A/C] NM_003930 SKAP2 EXON Missense_I49M exm610724 7 26904014 [A/G] NM_003930 SKAP2 EXON Missense_P12L exm610743 7 27134966 [T/G] NM_153620,NM_005522 HOXA1,HOXA1 EXON Missense_R121S,Missense_E189A exm610744 7 27134970 [T/G] NM_153620,NM_005522 HOXA1,HOXA1 EXON Missense_P120Q,Missense_Q188K exm610752 7 27135096 [T/G] NM_153620,NM_005522 HOXA1,HOXA1 EXON Silent,Missense_H146N exm610759 7 27135314 [T/C] NM_153620,NM_005522 HOXA1,HOXA1 EXON Missense_R73H,Missense_R73H exm610784 7 27140470 [T/G] NM_006735 HOXA2 EXON Missense_L336I exm610787 7 27140497 [T/C] NM_006735 HOXA2 EXON Missense_V327I exm610795 7 27140662 [A/C] NM_006735 HOXA2 EXON Missense_F272V exm610797 7 27140670 [A/G] NM_006735 HOXA2 EXON Missense_S269F exm610802 7 27140786 [G/C] NM_006735 HOXA2 EXON Missense_K230N exm610803 7 27140798 [G/C] NM_006735 HOXA2 EXON Missense_D226E exm610810 7 27141082 [T/A] NM_006735 HOXA2 EXON Missense_S132T exm2147309 7 27142040 [C/G] NM_006735 HOXA2 EXON Missense_P27R exm610834 7 27147739 [T/C] NM_030661,NM_153631 HOXA3,HOXA3 EXON Missense_S376N,Missense_S376N exm610835 7 27147742 [A/G] NM_030661,NM_153631 HOXA3,HOXA3 EXON Missense_M375T,Missense_M375T exm610843 7 27147967 [A/G] NM_030661,NM_153631 HOXA3,HOXA3 EXON Missense_P300L,Missense_P300L exm610847 7 27148057 [T/G] NM_030661,NM_153631 HOXA3,HOXA3 EXON Missense_P270H,Missense_P270H exm610862 7 27149857 [A/G] NM_030661,NM_153631 HOXA3,HOXA3 EXON Missense_P135S,Missense_P135S exm2245500 7 27159136 [G/C] NM_030661,NM_153631 HOXA3,HOXA3 EXON Silent,Silent exm610892 7 27168896 [A/C] NM_002141 HOXA4 EXON Missense_L304R exm610899 7 27169047 [A/T] NM_002141 HOXA4 EXON Missense_L254M exm610904 7 27169794 [C/G] NM_002141 HOXA4 EXON Missense_L187V exm610930 7 27170307 [T/C] NM_002141 HOXA4 EXON Missense_K16E exm610989 7 27186982 [G/C] NR_038832,NM_024014,NR_038831 HOXA-AS3,HOXA6,HOXA-AS3 EXON Silent,Missense_D129E,Silent exm610992 7 27187101 [A/G] NR_038832,NM_024014,NR_038831 HOXA-AS3,HOXA6,HOXA-AS3 EXON Silent,Missense_P90S,Silent exm611015 7 27194596 [T/C] NR_038832,NR_038831,NM_006896 HOXA-AS3,HOXA-AS3,HOXA7 EXON Silent,Silent,Missense_A209T exm611019 7 27194620 [C/G] NR_038832,NR_038831,NM_006896 HOXA-AS3,HOXA-AS3,HOXA7 EXON Silent,Silent,Missense_E201Q exm611032 7 27195857 [T/C] NM_006896 HOXA7 EXON Missense_K103R exm611045 7 27196113 [T/C] NM_006896 HOXA7 EXON Missense_A18T exm611047 7 27196116 [T/C] NM_006896 HOXA7 EXON Missense_G17R exm611056 7 27203269 [A/T] NM_152739,NR_037940 HOXA9,HOXA10-HOXA9 EXON Missense_R258W,Silent exm611060 7 27203346 [G/C] NM_152739,NR_037940 HOXA9,HOXA10-HOXA9 EXON Missense_T232S,Silent exm611061 7 27203373 [T/G] NM_152739,NR_037940 HOXA9,HOXA10-HOXA9 EXON Missense_K223T,Silent exm611068 7 27204512 [T/G] NM_152739,NR_037940 HOXA9,HOXA10-HOXA9 EXON Missense_P189T,Silent exm611075 7 27204653 [T/C] NM_152739,NR_037940 HOXA9,HOXA10-HOXA9 EXON Missense_G142S,Silent exm611090 7 27204865 [T/G] NM_152739,NR_037940 HOXA9,HOXA10-HOXA9 EXON Missense_H71P,Silent exm611091 7 27204884 [T/C] NM_152739,NR_037940 HOXA9,HOXA10-HOXA9 EXON Missense_A65T,Silent exm611095 7 27204921 [T/G] NM_152739,NR_037940 HOXA9,HOXA10-HOXA9 EXON Missense_S52R,Silent exm611121 7 27211772 [A/C] NR_037940,NR_037939,NM_018951 HOXA10-HOXA9,HOXA10,HOXA10 EXON Silent,Silent,Missense_A327S exm611122 7 27211781 [G/C] NR_037940,NR_037939,NM_018951 HOXA10-HOXA9,HOXA10,HOXA10 EXON Silent,Silent,Missense_G324R exm2245504 7 27211786 [A/G] NR_037940,NR_037939,NM_018951 HOXA10-HOXA9,HOXA10,HOXA10 EXON Silent,Silent,Missense_S322F exm611137 7 27213373 [T/C] NR_037940,NR_037939,NM_018951 HOXA10-HOXA9,HOXA10,HOXA10 EXON Silent,Silent,Missense_A185T exm2270591 7 27223563 [T/G] NM_005523 HOXA11 Silent exm611166 7 27224368 [C/G] NM_005523 HOXA11 EXON Missense_R132S exm611168 7 27224403 [A/C] NM_005523 HOXA11 EXON Missense_A121S exm611180 7 27224612 [T/A] NM_005523 HOXA11 EXON Missense_L51Q exm611201 7 27238913 [T/C] NM_000522 HOXA13 EXON Missense_G262S exm611207 7 27239064 [A/C] NM_000522 HOXA13 EXON Missense_M211I exm611222 7 27282698 [T/G] NM_001989 EVX1 EXON Missense_G17C exm611233 7 27284672 [T/G] NM_001989 EVX1 EXON Missense_G145C exm-rs13225783 7 27330056 [T/C] exm2258290 7 27363392 [A/G] exm2270737 7 27413263 [T/C] exm611277 7 27570906 [A/G] NM_152740 HIBADH EXON Missense_S253P exm611279 7 27570942 [A/C] NM_152740 HIBADH EXON Missense_A241S exm611298 7 27689159 [T/C] NM_152740 HIBADH EXON Missense_G62D exm611307 7 27797660 [A/G] NM_001206901,NM_001079864,NM_006024,NM_001206902 TAX1BP1,TAX1BP1,TAX1BP1,TAX1BP1 EXON Missense_S58N,Missense_S58N,Missense_S58N,Silent exm611318 7 27805568 [A/C] NM_001206901,NM_001079864,NM_006024,NM_001206902 TAX1BP1,TAX1BP1,TAX1BP1,TAX1BP1 EXON Missense_E127D,Missense_E127D,Missense_E127D,Silent exm611319 7 27805569 [T/G] NM_001206901,NM_001079864,NM_006024,NM_001206902 TAX1BP1,TAX1BP1,TAX1BP1,TAX1BP1 EXON Nonsense_E128X,Nonsense_E128X,Nonsense_E128X,Silent exm611328 7 27824897 [A/G] NM_001206901,NM_001079864,NM_006024,NM_001206902 TAX1BP1,TAX1BP1,TAX1BP1,TAX1BP1 EXON Missense_H243R,Missense_H243R,Missense_H243R,Missense_H86R exm611332 7 27825061 [T/C] NM_001206901,NM_001079864,NM_006024,NM_001206902 TAX1BP1,TAX1BP1,TAX1BP1,TAX1BP1 EXON Missense_L269F,Missense_L269F,Missense_L269F,Missense_L112F exm611338 7 27827103 [A/T] NM_001206901,NM_001079864,NM_006024,NM_001206902 TAX1BP1,TAX1BP1,TAX1BP1,TAX1BP1 EXON Missense_L307I,Missense_L307I,Missense_L307I,Missense_L150I exm611342 7 27827191 [A/G] NM_001206901,NM_001079864,NM_006024,NM_001206902 TAX1BP1,TAX1BP1,TAX1BP1,TAX1BP1 EXON Missense_Q336R,Missense_Q336R,Missense_Q336R,Missense_Q179R exm2147531 7 27831731 [A/C] NM_001206901,NM_001079864,NM_006024,NM_001206902 TAX1BP1,TAX1BP1,TAX1BP1,TAX1BP1 EXON Missense_N382T,Missense_N382T,Missense_N382T,Missense_N225T exm611351 7 27831772 [T/G] NM_001206901,NM_001079864,NM_006024,NM_001206902 TAX1BP1,TAX1BP1,TAX1BP1,TAX1BP1 EXON Missense_L396V,Missense_L396V,Missense_L396V,Missense_L239V exm611365 7 27834044 [A/G] NM_001206901,NM_001079864,NM_006024,NM_001206902 TAX1BP1,TAX1BP1,TAX1BP1,TAX1BP1 EXON Missense_V505I,Missense_V505I,Missense_V505I,Missense_V348I exm611367 7 27835758 [A/G] NM_001206901,NM_001079864,NM_006024,NM_001206902 TAX1BP1,TAX1BP1,TAX1BP1,TAX1BP1 EXON Missense_T520A,Missense_T520A,Missense_T520A,Missense_T363A exm611370 7 27835838 [C/G] NM_001206901,NM_001079864,NM_006024,NM_001206902 TAX1BP1,TAX1BP1,TAX1BP1,TAX1BP1 EXON Missense_Q546H,Missense_Q546H,Missense_Q546H,Missense_Q389H exm611386 7 27867375 [A/G] NM_001206901,NM_001079864,NM_006024,NM_001206902 TAX1BP1,TAX1BP1,TAX1BP1,TAX1BP1 EXON Missense_T660A,Missense_T660A,Missense_T702A,Missense_T503A exm611387 7 27867406 [A/G] NM_001206901,NM_001079864,NM_006024,NM_001206902 TAX1BP1,TAX1BP1,TAX1BP1,TAX1BP1 EXON Missense_R670H,Missense_R670H,Missense_R712H,Missense_R513H exm611404 7 27872466 [A/G] NM_175061 JAZF1 EXON Missense_F229L exm-rs10486567 7 27976563 [A/G] NM_175061 JAZF1 Silent exm2270592 7 28039797 [T/C] NM_175061 JAZF1 Silent exm2270738 7 28128410 [T/C] NM_175061 JAZF1 Silent exm-rs864745 7 28180556 [T/C] NM_175061 JAZF1 Silent exm-rs849141 7 28185091 [A/G] NM_175061 JAZF1 Silent exm-rs1635852 7 28189411 [T/C] NM_175061 JAZF1 Silent exm-rs1708299 7 28189946 [A/G] NM_175061 JAZF1 Silent exm-rs849134 7 28196222 [A/G] NM_175061 JAZF1 Silent exm-rs11765845 7 28391142 [A/G] NM_182899 CREB5 Silent exm2258295 7 28391182 [T/C] NM_182899 CREB5 Silent exm2147575 7 28547290 [A/G] NM_182899,NM_182898,NM_004904 CREB5,CREB5,CREB5 EXON Missense_S43G,Missense_S76G,Missense_S69G exm611485 7 28763932 [A/C] NM_182899,NM_182898,NM_004904,NM_001011666 CREB5,CREB5,CREB5,CREB5 EXON Missense_H196N,Missense_H229N,Missense_H222N,Missense_H90N exm611501 7 28843947 [A/G] NM_182899,NM_182898,NM_004904,NM_001011666 CREB5,CREB5,CREB5,CREB5 EXON Synonymous_P245P,Synonymous_P278P,Synonymous_P271P,Synonymous_P139P exm2258296 7 28843947 [A/G] NM_182899,NM_182898,NM_004904,NM_001011666 CREB5,CREB5,CREB5,CREB5 EXON Synonymous_P245P,Synonymous_P278P,Synonymous_P271P,Synonymous_P139P exm2147590 7 28848865 [C/G] NM_182899,NM_182898,NM_004904,NM_001011666 CREB5,CREB5,CREB5,CREB5 EXON Missense_G330A,Missense_G363A,Missense_G356A,Missense_G224A exm611516 7 28858828 [A/G] NM_182899,NM_182898,NM_004904,NM_001011666 CREB5,CREB5,CREB5,CREB5 EXON Missense_E454K,Missense_E487K,Missense_E480K,Missense_E348K exm2266512 7 28949597 [A/G] exm611537 7 28995807 [T/C] NM_014817 TRIL EXON Missense_A619T exm611555 7 28996170 [T/A] NM_014817 TRIL EXON Missense_S498T exm611573 7 28996557 [T/C] NM_014817 TRIL EXON Missense_A369T exm611585 7 28996911 [T/G] NM_014817 TRIL EXON Missense_T251P exm611586 7 28996944 [T/C] NM_014817 TRIL EXON Missense_T240A exm611597 7 28997290 [T/C] NM_014817 TRIL EXON Synonymous_R124R exm611599 7 28997293 [A/G] NM_014817 TRIL EXON Synonymous_P123P exm611620 7 29035428 [T/C] NR_038965,NM_031311,NM_019029 LOC100506497,CPVL,CPVL EXON Silent,Missense_R464Q,Missense_R464Q exm2275338 7 29035489 [A/G] NR_038965,NM_031311,NM_019029 LOC100506497,CPVL,CPVL EXON Silent,Nonsense_R444X,Nonsense_R444X exm-rs2252521 7 29041190 [T/C] NR_038965,NM_031311,NM_019029 LOC100506497,CPVL,CPVL Silent,Silent,Silent exm611623 7 29070209 [A/G] NM_031311,NM_019029 CPVL,CPVL EXON Missense_A435V,Missense_A435V exm611627 7 29070320 [T/C] NM_031311,NM_019029 CPVL,CPVL EXON Missense_R398H,Missense_R398H exm2258298 7 29103707 [T/C] NM_031311,NM_019029 CPVL,CPVL EXON Synonymous_P369P,Synonymous_P369P exm611631 7 29103735 [T/C] NM_031311,NM_019029 CPVL,CPVL EXON Missense_R360Q,Missense_R360Q exm611634 7 29103771 [C/G] NM_031311,NM_019029 CPVL,CPVL EXON Missense_T348S,Missense_T348S exm611639 7 29105647 [A/G] NM_031311,NM_019029 CPVL,CPVL EXON Missense_R319W,Missense_R319W exm611645 7 29111388 [A/C] NM_031311,NM_019029 CPVL,CPVL Silent,Silent exm611654 7 29111963 [T/G] NM_031311,NM_019029 CPVL,CPVL EXON Missense_N229T,Missense_N229T exm611655 7 29111973 [C/G] NM_031311,NM_019029 CPVL,CPVL EXON Missense_V226L,Missense_V226L exm611656 7 29111982 [T/C] NM_031311,NM_019029 CPVL,CPVL EXON Missense_V223M,Missense_V223M exm611662 7 29126150 [A/G] NM_031311,NM_019029 CPVL,CPVL EXON Missense_F187L,Missense_F187L exm611669 7 29132279 [A/G] NM_031311,NM_019029 CPVL,CPVL EXON Missense_Y168H,Missense_Y168H exm611672 7 29132319 [T/C] NM_031311,NM_019029 CPVL,CPVL Silent,Silent exm611676 7 29135759 [A/C] NM_031311,NM_019029 CPVL,CPVL EXON Missense_F121L,Missense_F121L exm611682 7 29152397 [T/C] NM_031311,NM_019029 CPVL,CPVL EXON Missense_M71V,Missense_M71V exm611685 7 29152426 [T/C] NM_031311,NM_019029 CPVL,CPVL EXON Missense_S61N,Missense_S61N exm611689 7 29160604 [T/C] NM_031311,NM_019029 CPVL,CPVL EXON Missense_R25H,Missense_R25H exm611690 7 29160613 [G/C] NM_031311,NM_019029 CPVL,CPVL EXON Missense_G22A,Missense_G22A exm611691 7 29160646 [A/G] NM_031311,NM_019029 CPVL,CPVL EXON Missense_S11L,Missense_S11L exm611692 7 29160664 [A/G] NM_031311,NM_019029 CPVL,CPVL EXON Missense_M5T,Missense_M5T exm-rs10486607 7 29184489 [T/C] NM_031311,NM_019029 CPVL,CPVL Silent,Silent exm611701 7 29234574 [A/C] NM_004067 CHN2 EXON Missense_N6T exm-rs3793306 7 29314083 [A/C] NM_004067 CHN2 Silent exm2266513 7 29424644 [A/G] NM_004067 CHN2 Silent exm611738 7 29519853 [A/G] NM_004067,NM_001039936 CHN2,CHN2 EXON Silent,Missense_G43S exm611740 7 29519929 [A/G] NM_004067,NM_001039936 CHN2,CHN2 EXON Missense_H204R,Missense_H68R exm611759 7 29546858 [A/G] NM_004067,NM_001039936 CHN2,CHN2 EXON Missense_D336N,Missense_D200N exm611764 7 29548926 [A/G] NM_004067,NM_001039936 CHN2,CHN2 EXON Missense_N380S,Missense_N244S exm611766 7 29548949 [A/G] NM_004067,NM_001039936 CHN2,CHN2 EXON Missense_V388I,Missense_V252I exm611771 7 29552190 [A/C] NM_004067,NM_001039936 CHN2,CHN2 EXON Missense_N416H,Missense_N280H exm611772 7 29552193 [A/G] NM_004067,NM_001039936 CHN2,CHN2 EXON Missense_E417K,Missense_E281K exm611775 7 29552256 [T/C] NM_004067,NM_001039936 CHN2,CHN2 EXON Missense_P438S,Missense_P302S exm2270595 7 29575822 [T/C] exm611798 7 29606160 [G/C] NM_175887 PRR15 EXON Missense_P72R exm611801 7 29606288 [T/C] NM_175887 PRR15 EXON Missense_P115S exm611802 7 29606316 [A/C] NM_175887 PRR15 EXON Missense_P124H exm-rs4722933 7 29612042 [T/C] exm2270596 7 29872395 [T/G] NM_001080529 WIPF3 Silent exm611817 7 29918676 [T/C] NM_001080529 WIPF3 EXON Missense_A92V exm611826 7 29923604 [T/C] NM_001080529 WIPF3 EXON Missense_A165V exm611837 7 29923866 [A/G] NM_001080529 WIPF3 EXON Synonymous_L252L exm611847 7 29924041 [T/C] NM_001080529 WIPF3 EXON Missense_P311S exm611850 7 29924072 [A/G] NM_001080529 WIPF3 EXON Missense_E321G exm611855 7 29924092 [G/C] NM_001080529 WIPF3 EXON Missense_P328A exm611868 7 29927740 [A/G] NM_001080529 WIPF3 EXON Missense_T386A exm611873 7 29928943 [T/C] NM_001080529 WIPF3 EXON Missense_T424M exm2258301 7 29943933 [A/G] NM_001080529 WIPF3 EXON Synonymous_E461E exm611878 7 29943933 [A/G] NM_001080529 WIPF3 EXON Synonymous_E461E exm2258302 7 29943939 [T/C] NM_001080529 WIPF3 EXON Synonymous_V463V exm611893 7 29966085 [T/C] NM_001145514,NM_001145513,NM_001145515,NM_014766 SCRN1,SCRN1,SCRN1,SCRN1 EXON Missense_I377V,Missense_I357V,Missense_I289V,Missense_I357V exm611895 7 29966141 [T/C] NM_001145514,NM_001145513,NM_001145515,NM_014766 SCRN1,SCRN1,SCRN1,SCRN1 EXON Missense_Q358R,Missense_Q338R,Missense_Q270R,Missense_Q338R exm611897 7 29966229 [T/C] NM_001145514,NM_001145513,NM_001145515,NM_014766 SCRN1,SCRN1,SCRN1,SCRN1 EXON Missense_I329V,Missense_I309V,Missense_I241V,Missense_I309V exm611916 7 29980471 [T/C] NM_001145514,NM_001145513,NM_001145515,NM_014766 SCRN1,SCRN1,SCRN1,SCRN1 EXON Missense_S209N,Missense_S189N,Missense_S121N,Missense_S189N exm611928 7 29994865 [A/C] NM_001145514,NM_001145513,NM_001145515,NM_014766 SCRN1,SCRN1,SCRN1,SCRN1 EXON Missense_A111S,Missense_A91S,Missense_A23S,Missense_A91S exm2147824 7 29994879 [A/T] NM_001145514,NM_001145513,NM_001145515,NM_014766 SCRN1,SCRN1,SCRN1,SCRN1 EXON Missense_H106L,Missense_H86L,Missense_H18L,Missense_H86L exm611932 7 29994926 [T/C] NM_001145514,NM_001145513,NM_001145515,NM_014766 SCRN1,SCRN1,SCRN1,SCRN1 EXON Missense_I90M,Missense_I70M,Missense_I2M,Missense_I70M exm611933 7 29994945 [G/C] NM_001145514,NM_001145513,NM_001145515,NM_014766 SCRN1,SCRN1,SCRN1,SCRN1 EXON Missense_R84T,Missense_R64T,Silent,Missense_R64T exm611940 7 30008553 [A/G] NM_001145514,NM_001145513,NM_001145515,NM_014766 SCRN1,SCRN1,SCRN1,SCRN1 EXON Missense_A64V,Missense_A44V,Silent,Missense_A44V exm611961 7 30062424 [T/C] NM_017946,NR_046478,NR_046479 FKBP14,FKBP14,FKBP14 EXON Missense_H69R,Silent,Silent exm611979 7 30066091 [C/G] NM_017946,NR_046478,NR_046479 FKBP14,FKBP14,FKBP14 EXON Missense_L12V,Silent,Silent exm611995 7 30088851 [A/T] NM_001197026,NM_032639,NM_001197027 PLEKHA8,PLEKHA8,PLEKHA8 EXON Missense_D150E,Missense_D150E,Missense_D150E exm612000 7 30088981 [A/G] NM_001197026,NM_032639,NM_001197027 PLEKHA8,PLEKHA8,PLEKHA8 EXON Missense_M194V,Missense_M194V,Missense_M194V exm612012 7 30094331 [A/G] NM_001197026,NM_032639,NM_001197027 PLEKHA8,PLEKHA8,PLEKHA8 EXON Missense_G268D,Missense_G268D,Missense_G268D exm612018 7 30094467 [T/A] NM_001197026,NM_032639,NM_001197027 PLEKHA8,PLEKHA8,PLEKHA8 EXON Missense_S313R,Missense_S313R,Missense_S313R exm612020 7 30100518 [T/C] NM_001197026,NM_032639,NM_001197027 PLEKHA8,PLEKHA8,PLEKHA8 EXON Missense_V353A,Missense_V353A,Missense_V353A exm2147866 7 30100524 [T/C] NM_001197026,NM_032639,NM_001197027 PLEKHA8,PLEKHA8,PLEKHA8 EXON Missense_A355V,Missense_A355V,Missense_A355V exm612027 7 30102295 [A/G] NM_001197026,NM_032639,NM_001197027 PLEKHA8,PLEKHA8,PLEKHA8 EXON Missense_K413E,Missense_K413E,Missense_K413E exm612033 7 30113711 [A/G] NM_001197026,NM_032639,NM_001197027 PLEKHA8,PLEKHA8,PLEKHA8 EXON Missense_R442Q,Silent,Missense_R442Q exm2147876 7 30185796 [A/G] NM_152793 C7orf41 EXON Missense_V56M exm2266514 7 30270403 [A/G] exm612087 7 30465283 [A/C] NM_006092 NOD1 EXON Nonsense_E945X exm612093 7 30469018 [A/G] NM_006092 NOD1 EXON Nonsense_Q921X exm612095 7 30469036 [T/G] NM_006092 NOD1 EXON Missense_Q915K exm612103 7 30475632 [A/G] NM_006092 NOD1 EXON Missense_T868M exm612115 7 30486592 [A/G] NM_006092 NOD1 EXON Missense_T787M exm612120 7 30487951 [C/G] NM_006092 NOD1 EXON Missense_E750Q exm612132 7 30490919 [T/C] NM_006092 NOD1 EXON Missense_R705Q exm612141 7 30491081 [A/G] NM_006092 NOD1 EXON Missense_T651M exm612144 7 30491123 [T/C] NM_006092 NOD1 EXON Missense_R637H exm612149 7 30491184 [A/G] NM_006092 NOD1 EXON Missense_R617C exm612152 7 30491220 [A/G] NM_006092 NOD1 EXON Missense_R605W exm612153 7 30491267 [T/C] NM_006092 NOD1 EXON Missense_N589S exm612154 7 30491310 [A/G] NM_006092 NOD1 EXON Missense_R575W exm612170 7 30491609 [A/C] NM_006092 NOD1 EXON Missense_L475R exm612176 7 30491693 [T/C] NM_006092 NOD1 EXON Missense_R447H exm612183 7 30491915 [T/C] NM_006092 NOD1 EXON Missense_R373H exm612185 7 30491919 [T/C] NM_006092 NOD1 EXON Missense_D372N exm612189 7 30492017 [A/G] NM_006092 NOD1 EXON Missense_P339L exm612200 7 30492237 [T/C] NM_006092 NOD1 EXON Missense_E266K exm612207 7 30492366 [A/G] NM_006092 NOD1 EXON Missense_R223W exm612208 7 30492392 [T/C] NM_006092 NOD1 EXON Missense_R214Q exm612214 7 30492468 [T/C] NM_006092 NOD1 EXON Missense_G189S exm612221 7 30492599 [A/G] NM_006092 NOD1 EXON Missense_L145P exm612229 7 30494794 [A/G] NM_006092 NOD1 EXON Missense_S112F exm612231 7 30494824 [A/G] NM_006092 NOD1 EXON Missense_P102L exm612232 7 30494833 [A/T] NM_006092 NOD1 EXON Missense_D99V exm612239 7 30494924 [A/G] NM_006092 NOD1 EXON Missense_R69C exm612254 7 30496518 [T/C] NM_006092 NOD1 EXON Missense_S7N exm612260 7 30536729 [G/C] NM_024051,NM_001199817,NM_001199816,NR_037669,NM_001199815 GGCT,GGCT,GGCT,GGCT,GGCT EXON Missense_K182N,Missense_K88N,Silent,Silent,Silent exm612269 7 30536816 [T/C] NM_024051,NM_001199817,NM_001199816,NR_037669,NM_001199815 GGCT,GGCT,GGCT,GGCT,GGCT EXON Synonymous_P153P,Synonymous_P59P,Missense_R108H,Silent,Missense_R160H exm612281 7 30540163 [T/A] NM_024051,NM_001199817,NM_001199816,NR_037669,NM_001199815 GGCT,GGCT,GGCT,GGCT,GGCT EXON Missense_N92K,Silent,Missense_N92K,Silent,Missense_N92K exm2264237 7 30616761 [A/C] NR_038889 LOC401320 Silent exm612293 7 30634548 [T/C] NM_002047 GARS EXON Missense_P4L exm612307 7 30638442 [A/G] NM_002047 GARS EXON Missense_K85E exm612311 7 30638491 [A/G] NM_002047 GARS EXON Missense_R101H exm612335 7 30649268 [T/C] NM_002047 GARS EXON Missense_T268I exm612341 7 30655580 [A/G] NM_002047 GARS EXON Missense_N367S exm612345 7 30655643 [A/G] NM_002047 GARS EXON Missense_R388Q exm612347 7 30655652 [A/G] NM_002047 GARS EXON Missense_R391H exm612359 7 30665930 [T/A] NM_002047 GARS EXON Missense_L565Q exm612362 7 30668200 [T/C] NM_002047 GARS EXON Missense_I575T exm612392 7 30693081 [T/C] NM_001202483,NM_001202482,NM_001883,NM_001202481,NM_001202475 CRHR2,CRHR2,CRHR2,CRHR2,CRHR2 EXON Silent,Missense_V410M,Missense_V411M,Missense_V397M,Missense_V438M exm612397 7 30693149 [T/G] NM_001202483,NM_001202482,NM_001883,NM_001202481,NM_001202475 CRHR2,CRHR2,CRHR2,CRHR2,CRHR2 EXON Silent,Missense_A387D,Missense_A388D,Missense_A374D,Missense_A415D exm612399 7 30693162 [A/G] NM_001202483,NM_001202482,NM_001883,NM_001202481,NM_001202475 CRHR2,CRHR2,CRHR2,CRHR2,CRHR2 EXON Silent,Nonsense_R383X,Nonsense_R384X,Nonsense_R370X,Nonsense_R411X exm612400 7 30693204 [T/C] NM_001202483,NM_001202482,NM_001883,NM_001202481,NM_001202475 CRHR2,CRHR2,CRHR2,CRHR2,CRHR2 EXON Silent,Missense_V369M,Missense_V370M,Missense_V356M,Missense_V397M exm612408 7 30695329 [T/C] NM_001202483,NM_001202482,NM_001883,NM_001202481,NM_001202475 CRHR2,CRHR2,CRHR2,CRHR2,CRHR2 EXON Missense_K307R,Missense_K306R,Missense_K307R,Missense_K293R,Missense_K334R exm612410 7 30695556 [T/C] NM_001202483,NM_001202482,NM_001883,NM_001202481,NM_001202475 CRHR2,CRHR2,CRHR2,CRHR2,CRHR2 EXON Missense_T302A,Missense_T301A,Missense_T302A,Missense_T288A,Missense_T329A exm612412 7 30695570 [A/G] NM_001202483,NM_001202482,NM_001883,NM_001202481,NM_001202475 CRHR2,CRHR2,CRHR2,CRHR2,CRHR2 EXON Missense_S297F,Missense_S296F,Missense_S297F,Missense_S283F,Missense_S324F exm612430 7 30701812 [T/C] NM_001202483,NM_001202482,NM_001883,NM_001202481,NM_001202475 CRHR2,CRHR2,CRHR2,CRHR2,CRHR2 EXON Missense_V240I,Missense_V239I,Missense_V240I,Missense_V226I,Missense_V267I exm612435 7 30702347 [G/C] NM_001202483,NM_001202482,NM_001883,NM_001202481,NM_001202475 CRHR2,CRHR2,CRHR2,CRHR2,CRHR2 EXON Missense_E220D,Missense_E219D,Missense_E220D,Missense_E206D,Missense_E247D exm612438 7 30702360 [G/C] NM_001202483,NM_001202482,NM_001883,NM_001202481,NM_001202475 CRHR2,CRHR2,CRHR2,CRHR2,CRHR2 EXON Missense_T216S,Missense_T215S,Missense_T216S,Missense_T202S,Missense_T243S exm612440 7 30702454 [A/G] NM_001202483,NM_001202482,NM_001883,NM_001202481,NM_001202475 CRHR2,CRHR2,CRHR2,CRHR2,CRHR2 EXON Missense_R185C,Missense_R184C,Missense_R185C,Missense_R171C,Missense_R212C exm2274229 7 30704787 [A/G] NM_001202483,NM_001202482,NM_001883,NM_001202481,NM_001202475 CRHR2,CRHR2,CRHR2,CRHR2,CRHR2 EXON Missense_R148W,Missense_R147W,Missense_R148W,Missense_R134W,Missense_R175W exm612449 7 30705171 [T/C] NM_001202483,NM_001202482,NM_001883,NM_001202481,NM_001202475 CRHR2,CRHR2,CRHR2,CRHR2,CRHR2 EXON Missense_A134T,Missense_A133T,Missense_A134T,Missense_A120T,Missense_A161T exm612456 7 30706883 [A/C] NM_001202483,NM_001202482,NM_001883,NM_001202481,NM_001202475 CRHR2,CRHR2,CRHR2,CRHR2,CRHR2 EXON Missense_K92N,Missense_K92N,Missense_K92N,Missense_K78N,Missense_K119N exm612463 7 30721871 [A/T] NM_001202483,NM_001202482,NM_001883,NM_001202481,NM_001202475 CRHR2,CRHR2,CRHR2,CRHR2,CRHR2 EXON Missense_L9Q,Missense_L9Q,Missense_L9Q,Silent,Silent exm612474 7 30791800 [T/C] NM_006774,NR_037598,NM_001199219 INMT,INMT-FAM188B,INMT EXON Nonsense_Q12X,Silent,Nonsense_Q12X exm612477 7 30791848 [A/G] NM_006774,NR_037598,NM_001199219 INMT,INMT-FAM188B,INMT EXON Missense_D28N,Silent,Missense_D28N exm612480 7 30791903 [A/C] NM_006774,NR_037598,NM_001199219 INMT,INMT-FAM188B,INMT EXON Missense_H46P,Silent,Missense_H46P exm612482 7 30793365 [T/C] NM_006774,NR_037598,NM_001199219 INMT,INMT-FAM188B,INMT EXON Missense_T58M,Silent,Missense_T57M exm612488 7 30793464 [A/G] NM_006774,NR_037598,NM_001199219 INMT,INMT-FAM188B,INMT EXON Missense_R91Q,Silent,Missense_R90Q exm612490 7 30793497 [T/C] NM_006774,NR_037598,NM_001199219 INMT,INMT-FAM188B,INMT EXON Missense_P102L,Silent,Missense_P101L exm2245543 7 30793521 [T/C] NM_006774,NR_037598,NM_001199219 INMT,INMT-FAM188B,INMT EXON Missense_A110V,Silent,Missense_A109V exm612497 7 30793532 [A/G] NM_006774,NR_037598,NM_001199219 INMT,INMT-FAM188B,INMT EXON Missense_A114T,Silent,Missense_A113T exm2148031 7 30795038 [T/C] NM_006774,NR_037598,NM_001199219 INMT,INMT-FAM188B,INMT EXON Synonymous_S121S,Silent,Synonymous_S120S exm612499 7 30795042 [T/C] NM_006774,NR_037598,NM_001199219 INMT,INMT-FAM188B,INMT EXON Nonsense_R123X,Silent,Nonsense_R122X exm612503 7 30795087 [T/G] NM_006774,NR_037598,NM_001199219 INMT,INMT-FAM188B,INMT EXON Missense_V138L,Silent,Missense_V137L exm612504 7 30795106 [A/G] NM_006774,NR_037598,NM_001199219 INMT,INMT-FAM188B,INMT EXON Missense_H144R,Silent,Missense_H143R exm612509 7 30795144 [A/G] NM_006774,NR_037598,NM_001199219 INMT,INMT-FAM188B,INMT EXON Missense_A157T,Silent,Missense_A156T exm612519 7 30795273 [T/C] NM_006774,NR_037598,NM_001199219 INMT,INMT-FAM188B,INMT EXON Missense_R200W,Silent,Missense_R199W exm612521 7 30795280 [T/C] NM_006774,NR_037598,NM_001199219 INMT,INMT-FAM188B,INMT EXON Missense_P202L,Silent,Missense_P201L exm612522 7 30795288 [A/G] NM_006774,NR_037598,NM_001199219 INMT,INMT-FAM188B,INMT EXON Missense_M205V,Silent,Missense_M204V exm612524 7 30795300 [T/C] NM_006774,NR_037598,NM_001199219 INMT,INMT-FAM188B,INMT EXON Missense_R209C,Silent,Missense_R208C exm612528 7 30795315 [A/G] NM_006774,NR_037598,NM_001199219 INMT,INMT-FAM188B,INMT EXON Missense_V214M,Silent,Missense_V213M exm612529 7 30795331 [A/G] NM_006774,NR_037598,NM_001199219 INMT,INMT-FAM188B,INMT EXON Missense_E219G,Silent,Missense_E218G exm612536 7 30795412 [A/G] NM_006774,NR_037598,NM_001199219 INMT,INMT-FAM188B,INMT EXON Missense_N246S,Silent,Missense_N245S exm612539 7 30795436 [T/G] NM_006774,NR_037598,NM_001199219 INMT,INMT-FAM188B,INMT EXON Missense_F254C,Silent,Missense_F253C exm612542 7 30795448 [A/G] NM_006774,NR_037598,NM_001199219 INMT,INMT-FAM188B,INMT EXON Missense_R258H,Silent,Missense_R257H exm612555 7 30818064 [A/G] NR_037598,NM_032222 INMT-FAM188B,FAM188B EXON Silent,Missense_C27Y exm612560 7 30818142 [T/G] NR_037598,NM_032222 INMT-FAM188B,FAM188B EXON Silent,Missense_L53R exm612564 7 30821701 [A/C] NR_037598,NM_032222 INMT-FAM188B,FAM188B EXON Silent,Missense_L98I exm612565 7 30821716 [T/A] NR_037598,NM_032222 INMT-FAM188B,FAM188B EXON Silent,Nonsense_K103X exm612573 7 30825451 [T/C] NR_037598,NM_032222 INMT-FAM188B,FAM188B EXON Silent,Missense_P169L exm612577 7 30825529 [A/G] NR_037598,NM_032222 INMT-FAM188B,FAM188B EXON Silent,Missense_R195K exm612578 7 30825544 [A/C] NR_037598,NM_032222 INMT-FAM188B,FAM188B EXON Silent,Missense_S200Y exm612580 7 30825571 [A/G] NR_037598,NM_032222 INMT-FAM188B,FAM188B EXON Silent,Missense_R209Q exm612582 7 30825603 [T/C] NR_037598,NM_032222 INMT-FAM188B,FAM188B EXON Silent,Missense_P220S exm612585 7 30830808 [T/C] NR_037598,NM_032222 INMT-FAM188B,FAM188B EXON Silent,Missense_R231W exm612586 7 30830853 [T/C] NR_037598,NM_032222 INMT-FAM188B,FAM188B EXON Silent,Missense_R246W exm612594 7 30830967 [T/A] NR_037598,NM_032222 INMT-FAM188B,FAM188B EXON Silent,Nonsense_K284X exm2148059 7 30831006 [T/C] NR_037598,NM_032222 INMT-FAM188B,FAM188B EXON Silent,Missense_R297W exm612598 7 30831082 [T/C] NR_037598,NM_032222 INMT-FAM188B,FAM188B EXON Silent,Missense_T322M exm612599 7 30831088 [A/G] NR_037598,NM_032222 INMT-FAM188B,FAM188B EXON Silent,Missense_R324K exm612604 7 30831163 [A/G] NR_037598,NM_032222 INMT-FAM188B,FAM188B EXON Silent,Missense_R349Q exm612605 7 30831180 [A/G] NR_037598,NM_032222 INMT-FAM188B,FAM188B EXON Silent,Missense_A355T exm612606 7 30831181 [T/C] NR_037598,NM_032222 INMT-FAM188B,FAM188B EXON Silent,Missense_A355V exm612608 7 30868299 [A/G] NR_037598,NM_032222 INMT-FAM188B,FAM188B EXON Silent,Missense_N360D exm612610 7 30868347 [T/C] NR_037598,NM_032222 INMT-FAM188B,FAM188B EXON Silent,Missense_R376W exm612611 7 30868352 [T/C] NR_037598,NM_032222 INMT-FAM188B,FAM188B EXON Silent,Synonymous_L377L exm612617 7 30876370 [G/C] NR_037598,NM_032222 INMT-FAM188B,FAM188B EXON Silent,Nonsense_S410X exm612621 7 30878900 [A/G] NR_037598,NM_032222 INMT-FAM188B,FAM188B EXON Silent,Missense_A442T exm612623 7 30878916 [A/G] NR_037598,NM_032222 INMT-FAM188B,FAM188B EXON Silent,Missense_G447D exm612627 7 30880413 [A/G] NR_037598,NM_032222 INMT-FAM188B,FAM188B EXON Silent,Missense_C465Y exm612630 7 30890095 [T/C] NR_037598,NM_032222 INMT-FAM188B,FAM188B EXON Silent,Missense_R491W exm612638 7 30890161 [A/G] NR_037598,NM_032222 INMT-FAM188B,FAM188B EXON Silent,Missense_V513I exm612641 7 30891833 [A/G] NR_037598,NM_032222 INMT-FAM188B,FAM188B EXON Silent,Missense_A517T exm612659 7 30911862 [T/C] NR_037598,NM_032222 INMT-FAM188B,FAM188B EXON Silent,Missense_R584C exm612666 7 30915143 [A/G] NR_037598,NM_032222 INMT-FAM188B,FAM188B EXON Silent,Missense_V615M exm612679 7 30921893 [A/G] NR_037598,NM_032222 INMT-FAM188B,FAM188B EXON Silent,Missense_R690H exm2148091 7 30921965 [A/G] NR_037598,NM_032222 INMT-FAM188B,FAM188B EXON Silent,Missense_R714Q exm612684 7 30922569 [A/G] NR_037598,NM_032222 INMT-FAM188B,FAM188B EXON Silent,Missense_N729S exm612700 7 30951658 [T/C] NM_198098 AQP1 EXON Missense_A45V exm612703 7 30951672 [A/G] NM_198098 AQP1 EXON Missense_V50M exm612704 7 30951678 [G/C] NM_198098 AQP1 EXON Missense_V52L exm612713 7 30951843 [A/G] NM_198098 AQP1 EXON Missense_V107I exm612714 7 30951844 [T/G] NM_198098 AQP1 EXON Missense_V107G exm612717 7 30951867 [A/G] NM_198098 AQP1 EXON Missense_I115V exm612719 7 30961242 [A/G] NM_198098,NM_001185060,NM_001185061,NM_001185062 AQP1,AQP1,AQP1,AQP1 EXON Silent,Silent,Missense_Y7C,Silent exm2148101 7 30961693 [A/G] NM_198098,NM_001185060,NM_001185061,NM_001185062 AQP1,AQP1,AQP1,AQP1 EXON Missense_V133M,Missense_V50M,Missense_V82M,Missense_V18M exm612727 7 30961777 [T/C] NM_198098,NM_001185060,NM_001185061,NM_001185062 AQP1,AQP1,AQP1,AQP1 EXON Missense_R161C,Missense_R78C,Missense_R110C,Missense_R46C exm612728 7 30961790 [A/G] NM_198098,NM_001185060,NM_001185061,NM_001185062 AQP1,AQP1,AQP1,AQP1 EXON Missense_G165D,Missense_G82D,Missense_G114D,Missense_G50D exm612729 7 30961799 [T/C] NM_198098,NM_001185060,NM_001185061,NM_001185062 AQP1,AQP1,AQP1,AQP1 EXON Missense_A168V,Missense_A85V,Missense_A117V,Missense_A53V exm612754 7 31003693 [T/C] NM_000823 GHRHR EXON Missense_R4W exm612756 7 31003712 [T/G] NM_000823 GHRHR EXON Missense_V10G exm612757 7 31003736 [T/C] NM_000823 GHRHR EXON Missense_P18L exm612764 7 31008686 [A/G] NM_000823 GHRHR EXON Missense_A57T exm612774 7 31009485 [T/C] NM_000823 GHRHR EXON Missense_A91V exm612779 7 31009572 [T/C] NM_000823 GHRHR EXON Missense_A120V exm612780 7 31009576 [T/G] NM_000823 GHRHR EXON Missense_E121D exm612781 7 31010770 [A/G] NM_000823 GHRHR EXON Missense_V135M exm612784 7 31011603 [A/G] NM_000823 GHRHR EXON Missense_V164I exm612785 7 31011625 [G/C] NM_000823 GHRHR EXON Missense_T171S exm612812 7 31014599 [A/G] NM_000823 GHRHR EXON Missense_D276N exm612814 7 31014612 [T/C] NM_000823 GHRHR EXON Missense_P280L exm612835 7 31016908 [A/G] NM_000823 GHRHR EXON Missense_A373T exm612837 7 31016937 [A/G] NM_000823 GHRHR EXON Synonymous_E382E exm612844 7 31018828 [T/C] NM_000823 GHRHR EXON Missense_S414L exm612848 7 31018852 [T/C] NM_000823 GHRHR EXON Missense_M422T exm612849 7 31018855 [A/G] NM_000823 GHRHR EXON Missense_C423Y exm2270739 7 31048898 [T/C] exm612857 7 31102914 [G/C] NM_001199635,NM_001199637,NM_001199636,NM_001118 ADCYAP1R1,ADCYAP1R1,ADCYAP1R1,ADCYAP1R1 EXON Missense_L12V,Missense_L12V,Missense_L12V,Missense_L12V exm612864 7 31104520 [A/G] NM_001199635,NM_001199637,NM_001199636,NM_001118 ADCYAP1R1,ADCYAP1R1,ADCYAP1R1,ADCYAP1R1 EXON Missense_N42S,Missense_N42S,Missense_N42S,Missense_N42S exm612866 7 31104538 [A/G] NM_001199635,NM_001199637,NM_001199636,NM_001118 ADCYAP1R1,ADCYAP1R1,ADCYAP1R1,ADCYAP1R1 EXON Missense_N48S,Missense_N48S,Missense_N48S,Missense_N48S exm612873 7 31117647 [A/G] NM_001199635,NM_001199637,NM_001199636,NM_001118 ADCYAP1R1,ADCYAP1R1,ADCYAP1R1,ADCYAP1R1 EXON Missense_A67T,Missense_A67T,Missense_A67T,Missense_A67T exm612876 7 31120229 [T/C] NM_001199635,NM_001199637,NM_001199636,NM_001118 ADCYAP1R1,ADCYAP1R1,ADCYAP1R1,ADCYAP1R1 EXON Synonymous_V89V,Silent,Synonymous_V89V,Synonymous_V89V exm612880 7 31121355 [T/C] NM_001199635,NM_001199637,NM_001199636,NM_001118 ADCYAP1R1,ADCYAP1R1,ADCYAP1R1,ADCYAP1R1 EXON Missense_S105F,Silent,Missense_S105F,Missense_S105F exm2258308 7 31121501 [T/C] NM_001199635,NM_001199637,NM_001199636,NM_001118 ADCYAP1R1,ADCYAP1R1,ADCYAP1R1,ADCYAP1R1 Silent,Silent,Silent,Silent exm612883 7 31123789 [A/G] NM_001199635,NM_001199637,NM_001199636,NM_001118 ADCYAP1R1,ADCYAP1R1,ADCYAP1R1,ADCYAP1R1 EXON Missense_D121G,Missense_D100G,Missense_D121G,Missense_D121G exm612885 7 31124376 [T/G] NM_001199635,NM_001199637,NM_001199636,NM_001118 ADCYAP1R1,ADCYAP1R1,ADCYAP1R1,ADCYAP1R1 EXON Missense_A155S,Missense_A134S,Missense_A155S,Missense_A155S exm612895 7 31126580 [C/G] NM_001199635,NM_001199637,NM_001199636,NM_001118 ADCYAP1R1,ADCYAP1R1,ADCYAP1R1,ADCYAP1R1 EXON Missense_V283L,Missense_V262L,Missense_V283L,Missense_V283L exm612904 7 31132321 [A/G] NM_001199635,NM_001199637,NM_001199636,NM_001118 ADCYAP1R1,ADCYAP1R1,ADCYAP1R1,ADCYAP1R1 EXON Missense_M340V,Missense_M319V,Missense_M340V,Missense_M340V exm612919 7 31377952 [T/C] NM_022728 NEUROD6 EXON Missense_D311N exm612967 7 31609381 [A/G] NM_001257967,NR_047565,NM_001257968,NM_194300 CCDC129,CCDC129,CCDC129,CCDC129 EXON Missense_Y99C,Silent,Missense_Y115C,Missense_Y89C exm612983 7 31614355 [T/C] NM_001257967,NR_047565,NM_001257968,NM_194300 CCDC129,CCDC129,CCDC129,CCDC129 EXON Synonymous_Y209Y,Silent,Synonymous_Y225Y,Synonymous_Y199Y exm612984 7 31617480 [A/G] NM_001257967,NR_047565,NM_001257968,NM_194300 CCDC129,CCDC129,CCDC129,CCDC129 EXON Missense_R211H,Silent,Missense_R227H,Missense_R201H exm612989 7 31617627 [A/G] NM_001257967,NR_047565,NM_001257968,NM_194300 CCDC129,CCDC129,CCDC129,CCDC129 EXON Missense_R260Q,Silent,Missense_R276Q,Missense_R250Q exm612990 7 31617677 [T/C] NM_001257967,NR_047565,NM_001257968,NM_194300 CCDC129,CCDC129,CCDC129,CCDC129 EXON Missense_R277W,Silent,Missense_R293W,Missense_R267W exm612992 7 31617702 [A/G] NM_001257967,NR_047565,NM_001257968,NM_194300 CCDC129,CCDC129,CCDC129,CCDC129 EXON Missense_E285G,Silent,Missense_E301G,Missense_E275G exm612999 7 31618008 [A/G] NM_001257967,NR_047565,NM_001257968,NM_194300 CCDC129,CCDC129,CCDC129,CCDC129 EXON Missense_H387R,Silent,Missense_H403R,Missense_H377R exm2148246 7 31622772 [A/G] NM_001257967,NR_047565,NM_001257968,NM_194300 CCDC129,CCDC129,CCDC129,CCDC129 EXON Missense_G409S,Silent,Missense_G425S,Missense_G399S exm613007 7 31682295 [A/G] NM_001257967,NR_047565,NM_001257968,NM_194300 CCDC129,CCDC129,CCDC129,CCDC129 Silent,Silent,Silent,Silent exm613011 7 31682343 [A/C] NM_001257967,NR_047565,NM_001257968,NM_194300 CCDC129,CCDC129,CCDC129,CCDC129 EXON Missense_R463S,Silent,Missense_R479S,Missense_R453S exm613012 7 31682383 [A/G] NM_001257967,NR_047565,NM_001257968,NM_194300 CCDC129,CCDC129,CCDC129,CCDC129 EXON Missense_D477N,Silent,Missense_D493N,Missense_D467N exm613018 7 31682453 [T/C] NM_001257967,NR_047565,NM_001257968,NM_194300 CCDC129,CCDC129,CCDC129,CCDC129 EXON Missense_A500V,Silent,Missense_A516V,Missense_A490V exm613021 7 31682495 [A/G] NM_001257967,NR_047565,NM_001257968,NM_194300 CCDC129,CCDC129,CCDC129,CCDC129 EXON Missense_E514G,Silent,Missense_E530G,Missense_E504G exm613026 7 31682570 [T/C] NM_001257967,NR_047565,NM_001257968,NM_194300 CCDC129,CCDC129,CCDC129,CCDC129 EXON Missense_T539M,Silent,Missense_T555M,Missense_T529M exm613027 7 31682595 [C/G] NM_001257967,NR_047565,NM_001257968,NM_194300 CCDC129,CCDC129,CCDC129,CCDC129 EXON Missense_D547E,Silent,Missense_D563E,Missense_D537E exm613030 7 31682629 [C/G] NM_001257967,NR_047565,NM_001257968,NM_194300 CCDC129,CCDC129,CCDC129,CCDC129 EXON Missense_A559P,Silent,Missense_A575P,Missense_A549P exm613042 7 31682908 [T/C] NM_001257967,NR_047565,NM_001257968,NM_194300 CCDC129,CCDC129,CCDC129,CCDC129 EXON Missense_C652R,Silent,Missense_C668R,Missense_C642R exm613043 7 31682927 [T/A] NM_001257967,NR_047565,NM_001257968,NM_194300 CCDC129,CCDC129,CCDC129,CCDC129 EXON Missense_E658V,Silent,Missense_E674V,Missense_E648V exm613049 7 31683251 [A/G] NM_001257967,NR_047565,NM_001257968,NM_194300 CCDC129,CCDC129,CCDC129,CCDC129 EXON Missense_Q766R,Silent,Missense_Q782R,Missense_Q756R exm613050 7 31683291 [A/C] NM_001257967,NR_047565,NM_001257968,NM_194300 CCDC129,CCDC129,CCDC129,CCDC129 EXON Missense_N779K,Silent,Missense_N795K,Missense_N769K exm613052 7 31683331 [A/G] NM_001257967,NR_047565,NM_001257968,NM_194300 CCDC129,CCDC129,CCDC129,CCDC129 EXON Missense_V793I,Silent,Missense_V809I,Missense_V783I exm613056 7 31683408 [G/C] NM_001257967,NR_047565,NM_001257968,NM_194300 CCDC129,CCDC129,CCDC129,CCDC129 EXON Missense_C818W,Silent,Missense_C834W,Missense_C808W exm613057 7 31683410 [A/G] NM_001257967,NR_047565,NM_001257968,NM_194300 CCDC129,CCDC129,CCDC129,CCDC129 EXON Missense_C819Y,Silent,Missense_C835Y,Missense_C809Y exm613063 7 31683566 [A/C] NM_001257967,NR_047565,NM_001257968,NM_194300 CCDC129,CCDC129,CCDC129,CCDC129 EXON Missense_S871Y,Silent,Missense_S887Y,Missense_S861Y exm613064 7 31690760 [A/C] NM_001257967,NR_047565,NM_001257968,NM_194300 CCDC129,CCDC129,CCDC129,CCDC129 EXON Missense_T873K,Silent,Missense_T889K,Missense_T863K exm613066 7 31690831 [T/C] NM_001257967,NR_047565,NM_001257968,NM_194300 CCDC129,CCDC129,CCDC129,CCDC129 EXON Missense_H897Y,Silent,Missense_H913Y,Missense_H887Y exm613072 7 31691564 [A/G] NM_001257967,NR_047565,NM_001257968,NM_194300 CCDC129,CCDC129,CCDC129,CCDC129 EXON Missense_E918G,Silent,Missense_E934G,Missense_E908G exm613074 7 31691581 [T/C] NM_001257967,NR_047565,NM_001257968,NM_194300 CCDC129,CCDC129,CCDC129,CCDC129 EXON Missense_R924C,Silent,Missense_R940C,Missense_R914C exm613075 7 31691582 [A/G] NM_001257967,NR_047565,NM_001257968,NM_194300 CCDC129,CCDC129,CCDC129,CCDC129 EXON Missense_R924H,Silent,Missense_R940H,Missense_R914H exm613079 7 31692181 [A/C] NM_001257967,NR_047565,NM_001257968,NM_194300 CCDC129,CCDC129,CCDC129,CCDC129 EXON Missense_H968P,Silent,Missense_H984P,Missense_H958P exm613080 7 31692244 [T/C] NM_001257967,NR_047565,NM_001257968,NM_194300 CCDC129,CCDC129,CCDC129,CCDC129 EXON Missense_M989T,Silent,Missense_M1005T,Missense_M979T exm613083 7 31692270 [A/G] NM_001257967,NR_047565,NM_001257968,NM_194300 CCDC129,CCDC129,CCDC129,CCDC129 EXON Missense_D998N,Silent,Missense_D1014N,Missense_D988N exm613086 7 31692357 [T/C] NM_001257967,NR_047565,NM_001257968,NM_194300 CCDC129,CCDC129,CCDC129,CCDC129 EXON Missense_P1027S,Silent,Silent,Missense_P1017S exm613088 7 31692409 [G/C] NM_001257967,NR_047565,NM_001257968,NM_194300 CCDC129,CCDC129,CCDC129,CCDC129 EXON Missense_P1044R,Silent,Silent,Missense_P1034R exm613089 7 31692415 [T/G] NM_001257967,NR_047565,NM_001257968,NM_194300 CCDC129,CCDC129,CCDC129,CCDC129 EXON Missense_G1046V,Silent,Silent,Missense_G1036V exm613090 7 31692423 [A/G] NM_001257967,NR_047565,NM_001257968,NM_194300 CCDC129,CCDC129,CCDC129,CCDC129 EXON Missense_D1049N,Silent,Silent,Missense_D1039N exm613093 7 31732084 [T/G] NM_001145123,NM_006658 PPP1R17,PPP1R17 EXON Missense_L10R,Missense_L10R exm613097 7 31732118 [A/C] NM_001145123,NM_006658 PPP1R17,PPP1R17 EXON Missense_D21E,Missense_D21E exm613108 7 31735236 [A/G] NM_001145123,NM_006658 PPP1R17,PPP1R17 Silent,Silent exm2245553 7 31736599 [A/C] NM_001145123,NM_006658 PPP1R17,PPP1R17 EXON Missense_I35L,Missense_I86L exm613120 7 31746868 [A/G] NM_001145123,NM_006658 PPP1R17,PPP1R17 EXON Missense_E96K,Missense_E147K exm2266388 7 31756362 [A/G] exm2262300 7 31789186 [A/G] exm613122 7 31793046 [C/G] NM_001191057,NM_001191059,NM_001191058 PDE1C,PDE1C,PDE1C EXON Missense_I694M,Missense_I694M,Missense_I754M exm613127 7 31793149 [T/C] NM_001191057,NM_001191059,NM_001191058 PDE1C,PDE1C,PDE1C EXON Missense_R660H,Missense_R660H,Missense_R720H exm613129 7 31815280 [A/G] NM_001191057,NM_001191059,NM_001191058 PDE1C,PDE1C,PDE1C EXON Missense_P653L,Missense_P653L,Missense_P713L exm613131 7 31815286 [A/G] NM_001191057,NM_001191059,NM_001191058 PDE1C,PDE1C,PDE1C EXON Missense_T651M,Missense_T651M,Missense_T711M exm613143 7 31855577 [A/C] NM_001191057,NM_001191059,NM_001191058,NM_005020,NM_001191056 PDE1C,PDE1C,PDE1C,PDE1C,PDE1C EXON Missense_S592A,Missense_S592A,Missense_S652A,Missense_S592A,Missense_S592A exm613146 7 31855625 [G/C] NM_001191057,NM_001191059,NM_001191058,NM_005020,NM_001191056 PDE1C,PDE1C,PDE1C,PDE1C,PDE1C EXON Missense_V576L,Missense_V576L,Missense_V636L,Missense_V576L,Missense_V576L exm613151 7 31855672 [T/G] NM_001191057,NM_001191059,NM_001191058,NM_005020,NM_001191056 PDE1C,PDE1C,PDE1C,PDE1C,PDE1C EXON Missense_A560E,Missense_A560E,Missense_A620E,Missense_A560E,Missense_A560E exm613153 7 31855702 [A/G] NM_001191057,NM_001191059,NM_001191058,NM_005020,NM_001191056 PDE1C,PDE1C,PDE1C,PDE1C,PDE1C EXON Missense_M550T,Missense_M550T,Missense_M610T,Missense_M550T,Missense_M550T exm613157 7 31855736 [G/C] NM_001191057,NM_001191059,NM_001191058,NM_005020,NM_001191056 PDE1C,PDE1C,PDE1C,PDE1C,PDE1C EXON Missense_A539P,Missense_A539P,Missense_A599P,Missense_A539P,Missense_A539P exm613160 7 31862737 [A/G] NM_001191057,NM_001191059,NM_001191058,NM_005020,NM_001191056 PDE1C,PDE1C,PDE1C,PDE1C,PDE1C EXON Missense_T511M,Missense_T511M,Missense_T571M,Missense_T511M,Missense_T511M exm613162 7 31862756 [T/C] NM_001191057,NM_001191059,NM_001191058,NM_005020,NM_001191056 PDE1C,PDE1C,PDE1C,PDE1C,PDE1C EXON Missense_S505G,Missense_S505G,Missense_S565G,Missense_S505G,Missense_S505G exm613165 7 31862768 [T/C] NM_001191057,NM_001191059,NM_001191058,NM_005020,NM_001191056 PDE1C,PDE1C,PDE1C,PDE1C,PDE1C EXON Missense_V501I,Missense_V501I,Missense_V561I,Missense_V501I,Missense_V501I exm2245555 7 31862774 [T/C] NM_001191057,NM_001191059,NM_001191058,NM_005020,NM_001191056 PDE1C,PDE1C,PDE1C,PDE1C,PDE1C EXON Missense_I499V,Missense_I499V,Missense_I559V,Missense_I499V,Missense_I499V exm613177 7 31867939 [A/G] NM_001191057,NM_001191059,NM_001191058,NM_005020,NM_001191056 PDE1C,PDE1C,PDE1C,PDE1C,PDE1C EXON Nonsense_R418X,Nonsense_R418X,Nonsense_R478X,Nonsense_R418X,Nonsense_R418X exm613184 7 31877485 [T/C] NM_001191057,NM_001191059,NM_001191058,NM_005020,NM_001191056 PDE1C,PDE1C,PDE1C,PDE1C,PDE1C EXON Missense_A361T,Missense_A361T,Missense_A421T,Missense_A361T,Missense_A361T exm613197 7 31904604 [A/G] NM_001191057,NM_001191059,NM_001191058,NM_005020,NM_001191056 PDE1C,PDE1C,PDE1C,PDE1C,PDE1C EXON Synonymous_A234A,Synonymous_A234A,Synonymous_A294A,Synonymous_A234A,Synonymous_A234A exm2258310 7 31904604 [A/G] NM_001191057,NM_001191059,NM_001191058,NM_005020,NM_001191056 PDE1C,PDE1C,PDE1C,PDE1C,PDE1C EXON Synonymous_A234A,Synonymous_A234A,Synonymous_A294A,Synonymous_A234A,Synonymous_A234A exm613226 7 31920469 [A/G] NM_001191057,NM_001191059,NM_001191058,NM_005020,NM_001191056 PDE1C,PDE1C,PDE1C,PDE1C,PDE1C EXON Missense_R45W,Missense_R45W,Missense_R105W,Missense_R45W,Missense_R45W exm613233 7 32110008 [T/C] NM_001191057,NM_001191059,NM_001191058,NM_005020,NM_001191056 PDE1C,PDE1C,PDE1C,PDE1C,PDE1C EXON Silent,Silent,Silent,Silent,Silent exm-rs32319 7 32182644 [T/C] NM_001191058 PDE1C Silent exm613237 7 32209414 [A/C] NM_001191058 PDE1C EXON Missense_L97F exm2270598 7 32273107 [T/C] NM_001191058 PDE1C Silent exm613250 7 32338337 [A/G] NM_001191058 PDE1C EXON Missense_A4V exm-rs215614 7 32347335 [A/G] exm2262301 7 32449568 [T/C] exm2266389 7 32525631 [A/G] NR_024466,NM_001130710,NM_001139499,NM_012322 LSM5,LSM5,LSM5,LSM5 EXON Silent,Silent,Silent,Silent exm613284 7 32582779 [T/G] NM_015060 AVL9 EXON Missense_I40M exm613291 7 32584334 [A/C] NM_015060 AVL9 EXON Missense_R81S exm613292 7 32584362 [A/G] NM_015060 AVL9 EXON Missense_I91V exm613310 7 32598552 [T/C] NM_015060 AVL9 EXON Missense_H231Y exm613314 7 32598626 [A/C] NM_015060 AVL9 EXON Missense_N255K exm613315 7 32598630 [A/T] NM_015060 AVL9 EXON Missense_C257S exm613320 7 32598816 [T/C] NM_015060 AVL9 EXON Missense_P319S exm613327 7 32609654 [T/C] NM_015060 AVL9 EXON Missense_M413T exm613330 7 32609689 [A/G] NM_015060 AVL9 EXON Missense_T425A exm613340 7 32612931 [A/G] NM_015060 AVL9 EXON Missense_V491I exm613359 7 32620473 [A/G] NM_015060 AVL9 EXON Missense_R601Q exm-rs17170516 7 32818759 [A/G] exm613401 7 32909619 [T/C] NM_015483 KBTBD2 EXON Missense_T404A exm2148390 7 32909934 [A/G] NM_015483 KBTBD2 EXON Missense_C299R exm613420 7 32910376 [A/C] NM_015483 KBTBD2 EXON Missense_S151R exm613426 7 32910473 [T/C] NM_015483 KBTBD2 EXON Missense_R119H exm2258313 7 32997332 [T/C] NM_007270 FKBP9 EXON Synonymous_R49R exm613449 7 33014893 [T/C] NM_007270 FKBP9 EXON Missense_P156L exm2245558 7 33014918 [T/G] NM_007270 FKBP9 EXON Missense_Q164H exm613482 7 33028183 [A/G] NM_007270 FKBP9 EXON Missense_E320K exm613521 7 33054435 [G/C] NM_001002010,NM_016489,NM_001002009,NM_001166118 NT5C3,NT5C3,NT5C3,NT5C3 EXON Missense_E306D,Missense_E267D,Missense_E267D,Missense_E255D exm2148435 7 33057089 [T/C] NM_001002010,NM_016489,NM_001002009,NM_001166118 NT5C3,NT5C3,NT5C3,NT5C3 EXON Missense_V224I,Missense_V185I,Missense_V185I,Missense_V173I exm613545 7 33061694 [T/G] NM_001002010,NM_016489,NM_001002009,NM_001166118 NT5C3,NT5C3,NT5C3,NT5C3 EXON Missense_K114Q,Missense_K75Q,Missense_K75Q,Missense_K63Q exm613564 7 33102322 [T/G] NM_001002010,NM_001002009 NT5C3,NT5C3 EXON Missense_P4Q,Silent exm613571 7 33136109 [T/C] NM_203288 RP9 EXON Missense_V155I exm613574 7 33136902 [T/G] NM_203288 RP9 EXON Missense_K129T exm2266390 7 33139147 [A/G] NM_203288 RP9 Silent exm613589 7 33185898 [A/G] NM_014451,NM_198428,NM_001033604,NM_001033605 BBS9,BBS9,BBS9,BBS9 EXON Missense_T12A,Missense_T12A,Missense_T12A,Missense_T12A exm-rs7793096 7 33282577 [A/G] NM_014451,NM_198428,NM_001033604,NM_001033605 BBS9,BBS9,BBS9,BBS9 Silent,Silent,Silent,Silent exm613620 7 33312649 [A/G] NM_014451,NM_198428,NM_001033604,NM_001033605 BBS9,BBS9,BBS9,BBS9 EXON Missense_E243G,Missense_E243G,Missense_E243G,Missense_E243G exm613621 7 33312657 [T/C] NM_014451,NM_198428,NM_001033604,NM_001033605 BBS9,BBS9,BBS9,BBS9 EXON Missense_L246F,Missense_L246F,Missense_L246F,Missense_L246F exm613623 7 33312688 [T/C] NM_014451,NM_198428,NM_001033604,NM_001033605 BBS9,BBS9,BBS9,BBS9 EXON Missense_S256L,Missense_S256L,Missense_S256L,Missense_S256L exm613629 7 33312783 [A/G] NM_014451,NM_198428,NM_001033604,NM_001033605 BBS9,BBS9,BBS9,BBS9 EXON Missense_S288G,Missense_S288G,Missense_S288G,Missense_S288G exm2258315 7 33376146 [T/C] NM_014451,NM_198428,NM_001033604,NM_001033605 BBS9,BBS9,BBS9,BBS9 EXON Synonymous_N370N,Synonymous_N370N,Synonymous_N370N,Synonymous_N370N exm613641 7 33376148 [T/C] NM_014451,NM_198428,NM_001033604,NM_001033605 BBS9,BBS9,BBS9,BBS9 EXON Missense_V371A,Missense_V371A,Missense_V371A,Missense_V371A exm2258316 7 33380555 [T/C] NM_014451,NM_198428,NM_001033604,NM_001033605 BBS9,BBS9,BBS9,BBS9 EXON Synonymous_V415V,Synonymous_V415V,Synonymous_V415V,Synonymous_V415V exm613645 7 33380556 [A/G] NM_014451,NM_198428,NM_001033604,NM_001033605 BBS9,BBS9,BBS9,BBS9 EXON Missense_V416M,Missense_V416M,Missense_V416M,Missense_V416M exm613649 7 33384197 [T/C] NM_014451,NM_198428,NM_001033604,NM_001033605 BBS9,BBS9,BBS9,BBS9 EXON Missense_A427V,Missense_A427V,Missense_A427V,Missense_A427V exm613664 7 33392479 [A/C] NM_014451,NM_198428,NM_001033604,NM_001033605 BBS9,BBS9,BBS9,BBS9 EXON Silent,Missense_P516T,Missense_P481T,Silent exm613672 7 33397476 [A/G] NM_014451,NM_198428,NM_001033604,NM_001033605 BBS9,BBS9,BBS9,BBS9 EXON Missense_R481Q,Missense_R521Q,Missense_R486Q,Missense_R516Q exm613677 7 33397560 [T/C] NM_014451,NM_198428,NM_001033604,NM_001033605 BBS9,BBS9,BBS9,BBS9 EXON Missense_T509I,Missense_T549I,Missense_T514I,Missense_T544I exm613678 7 33397562 [A/G] NM_014451,NM_198428,NM_001033604,NM_001033605 BBS9,BBS9,BBS9,BBS9 EXON Missense_I510V,Missense_I550V,Missense_I515V,Missense_I545V exm613683 7 33407445 [A/G] NM_014451,NM_198428,NM_001033604,NM_001033605 BBS9,BBS9,BBS9,BBS9 EXON Missense_R547Q,Missense_R587Q,Missense_R552Q,Missense_R582Q exm613684 7 33407453 [A/G] NM_014451,NM_198428,NM_001033604,NM_001033605 BBS9,BBS9,BBS9,BBS9 EXON Missense_V550I,Missense_V590I,Missense_V555I,Missense_V585I exm613691 7 33423337 [A/C] NM_014451,NM_198428,NM_001033604,NM_001033605 BBS9,BBS9,BBS9,BBS9 EXON Missense_I577L,Missense_I617L,Missense_I582L,Missense_I612L exm613694 7 33423406 [A/G] NM_014451,NM_198428,NM_001033604,NM_001033605 BBS9,BBS9,BBS9,BBS9 EXON Missense_I600V,Missense_I640V,Missense_I605V,Missense_I635V exm613697 7 33427634 [T/C] NM_014451,NM_198428,NM_001033604,NM_001033605 BBS9,BBS9,BBS9,BBS9 EXON Missense_L625F,Missense_L665F,Missense_L630F,Missense_L660F exm2148505 7 33427727 [A/G] NM_014451,NM_198428,NM_001033604,NM_001033605 BBS9,BBS9,BBS9,BBS9 EXON Missense_D656N,Missense_D696N,Missense_D661N,Missense_D691N exm613701 7 33427746 [A/C] NM_014451,NM_198428,NM_001033604,NM_001033605 BBS9,BBS9,BBS9,BBS9 EXON Missense_T662N,Missense_T702N,Missense_T667N,Missense_T697N exm613705 7 33545175 [T/C] NM_014451,NM_198428,NM_001033604,NM_001033605 BBS9,BBS9,BBS9,BBS9 EXON Missense_A699V,Missense_A739V,Missense_A704V,Missense_A734V exm613711 7 33545217 [T/A] NM_014451,NM_198428,NM_001033604,NM_001033605 BBS9,BBS9,BBS9,BBS9 EXON Missense_E713V,Missense_E753V,Missense_E718V,Missense_E748V exm613713 7 33545253 [A/G] NM_014451,NM_198428,NM_001033604,NM_001033605 BBS9,BBS9,BBS9,BBS9 EXON Missense_E725G,Missense_E765G,Missense_E730G,Missense_E760G exm613716 7 33573576 [A/G] NM_014451,NM_198428,NM_001033604,NM_001033605 BBS9,BBS9,BBS9,BBS9 EXON Missense_E730G,Missense_E770G,Missense_E735G,Missense_E765G exm613721 7 33573603 [T/A] NM_014451,NM_198428,NM_001033604,NM_001033605 BBS9,BBS9,BBS9,BBS9 EXON Missense_L739Q,Missense_L779Q,Missense_L744Q,Missense_L774Q exm613723 7 33573630 [T/C] NM_014451,NM_198428,NM_001033604,NM_001033605 BBS9,BBS9,BBS9,BBS9 EXON Missense_S748F,Missense_S788F,Missense_S753F,Missense_S783F exm613729 7 33573737 [T/C] NM_014451,NM_198428,NM_001033604,NM_001033605 BBS9,BBS9,BBS9,BBS9 EXON Missense_R784C,Missense_R824C,Missense_R789C,Missense_R819C exm2266391 7 33590812 [A/G] NM_014451,NM_198428,NM_001033604,NM_001033605 BBS9,BBS9,BBS9,BBS9 Silent,Silent,Silent,Silent exm2270741 7 33620899 [T/C] NM_014451,NM_198428,NM_001033604,NM_001033605 BBS9,BBS9,BBS9,BBS9 Silent,Silent,Silent,Silent exm613733 7 33644548 [A/G] NM_014451,NM_198428,NM_001033604,NM_001033605 BBS9,BBS9,BBS9,BBS9 EXON Missense_T825A,Missense_T865A,Missense_T830A,Missense_T860A exm613735 7 33644587 [T/G] NM_014451,NM_198428,NM_001033604,NM_001033605 BBS9,BBS9,BBS9,BBS9 EXON Nonsense_E838X,Nonsense_E878X,Nonsense_E843X,Nonsense_E873X exm2258318 7 33926351 [A/G] exm613766 7 33976901 [A/G] NM_133468 BMPER EXON Missense_N74D exm613770 7 33976935 [T/C] NM_133468 BMPER EXON Missense_P85L exm613787 7 34010012 [A/G] NM_133468 BMPER EXON Missense_M158I exm613789 7 34014325 [A/G] NM_133468 BMPER EXON Missense_E169K exm613790 7 34085921 [A/G] NM_133468 BMPER EXON Missense_G194S exm613796 7 34086005 [T/C] NM_133468 BMPER EXON Missense_P222S exm613811 7 34118477 [A/G] NM_133468 BMPER EXON Missense_V363I exm613832 7 34125410 [T/C] NM_133468 BMPER EXON Missense_M484T exm613835 7 34125419 [T/C] NM_133468 BMPER EXON Missense_P487L exm613839 7 34125473 [A/G] NM_133468 BMPER EXON Missense_R505H exm613842 7 34125551 [A/G] NM_133468 BMPER EXON Missense_N531S exm613844 7 34125622 [T/C] NM_133468 BMPER EXON Missense_R555W exm613845 7 34125632 [A/G] NM_133468 BMPER EXON Missense_R558Q exm613848 7 34125667 [A/C] NM_133468 BMPER EXON Missense_T570P exm613849 7 34125677 [T/C] NM_133468 BMPER EXON Missense_S573L exm2148557 7 34125691 [A/G] NM_133468 BMPER EXON Missense_A578T exm613872 7 34192881 [A/G] NM_133468 BMPER EXON Missense_R685Q exm2266516 7 34416608 [A/G] NR_033665,NR_033664 NPSR1-AS1,NPSR1-AS1 Silent,Silent exm2258319 7 34497585 [T/C] NR_033665,NR_033664 NPSR1-AS1,NPSR1-AS1 Silent,Silent exm613877 7 34698077 [T/C] NR_033665,NR_033664,NM_207173,NM_207172 NPSR1-AS1,NPSR1-AS1,NPSR1,NPSR1 EXON Silent,Silent,Missense_T18M,Missense_T18M exm613883 7 34698164 [A/C] NR_033665,NR_033664,NM_207173,NM_207172 NPSR1-AS1,NPSR1-AS1,NPSR1,NPSR1 EXON Silent,Silent,Missense_S47Y,Missense_S47Y exm613888 7 34724212 [A/G] NR_033665,NR_033664,NM_207173,NM_207172 NPSR1-AS1,NPSR1-AS1,NPSR1,NPSR1 EXON Silent,Silent,Missense_G66R,Missense_G66R exm613892 7 34724273 [T/C] NR_033665,NR_033664,NM_207173,NM_207172 NPSR1-AS1,NPSR1-AS1,NPSR1,NPSR1 EXON Silent,Silent,Missense_F86S,Missense_F86S exm613894 7 34818113 [A/T] NM_207173,NM_207172,NR_015356 NPSR1,NPSR1,NPSR1-AS1 EXON Missense_N107I,Missense_N107I,Silent exm613897 7 34818158 [A/G] NM_207173,NM_207172,NR_015356 NPSR1,NPSR1,NPSR1-AS1 EXON Missense_R122Q,Missense_R122Q,Silent exm2270600 7 34821428 [T/C] NM_207173,NM_207172,NR_015356 NPSR1,NPSR1,NPSR1-AS1 Silent,Silent,Silent exm613907 7 34851424 [A/G] NM_207173,NM_207172,NR_015356 NPSR1,NPSR1,NPSR1-AS1 EXON Missense_S143G,Missense_S143G,Silent exm613910 7 34851475 [A/G] NM_207173,NM_207172,NR_015356 NPSR1,NPSR1,NPSR1-AS1 EXON Missense_E160K,Missense_E160K,Silent exm613920 7 34867124 [T/G] NM_207173,NM_207172,NR_015356 NPSR1,NPSR1,NPSR1-AS1 EXON Missense_C197F,Missense_C197F,Silent exm613921 7 34867125 [G/C] NM_207173,NM_207172,NR_015356 NPSR1,NPSR1,NPSR1-AS1 EXON Missense_C197W,Missense_C197W,Silent exm613925 7 34867169 [T/C] NM_207173,NM_207172,NR_015356 NPSR1,NPSR1,NPSR1-AS1 EXON Missense_T212I,Missense_T212I,Silent exm613932 7 34874048 [A/G] NM_207173,NM_207172 NPSR1,NPSR1 EXON Missense_E245K,Missense_E245K exm613934 7 34884534 [T/C] NM_207173,NM_207172 NPSR1,NPSR1 EXON Nonsense_R262X,Nonsense_R262X exm613939 7 34884564 [A/G] NM_207173,NM_207172 NPSR1,NPSR1 EXON Missense_A272T,Missense_A272T exm613941 7 34888110 [A/G] NM_207173,NM_207172 NPSR1,NPSR1 EXON Nonsense_W287X,Nonsense_W287X exm2148588 7 34888142 [A/C] NM_207173,NM_207172 NPSR1,NPSR1 EXON Missense_N298H,Missense_N298H exm613954 7 34889182 [A/G] NM_207173,NM_207172 NPSR1,NPSR1 EXON Silent,Missense_Q344R exm613955 7 34889185 [T/G] NM_207173,NM_207172 NPSR1,NPSR1 EXON Silent,Missense_R345I exm613960 7 34889212 [A/G] NM_207173,NM_207172 NPSR1,NPSR1 EXON Silent,Missense_R354Q exm613965 7 34889262 [A/G] NM_207173,NM_207172 NPSR1,NPSR1 EXON Silent,Missense_I371V exm613970 7 34917702 [A/G] NM_207173 NPSR1 EXON Missense_R347H exm-rs4723388 7 34942820 [T/C] exm613991 7 34979905 [A/C] NM_015283 DPY19L1 EXON Missense_G502V exm614008 7 34987282 [A/G] NM_015283 DPY19L1 EXON Missense_L412P exm614043 7 35051059 [T/C] NM_015283 DPY19L1 EXON Missense_I112V exm614061 7 35242077 [A/G] NM_001077653 TBX20 EXON Missense_R437C exm614074 7 35244154 [A/G] NM_001077653 TBX20 EXON Missense_R311C exm2245575 7 35271137 [T/G] NM_001077653,NM_001166220 TBX20,TBX20 EXON Missense_S290Y,Missense_S290Y exm614096 7 35288307 [T/G] NM_001077653,NM_001166220 TBX20,TBX20 EXON Missense_D176A,Missense_D176A exm614102 7 35288364 [T/C] NM_001077653,NM_001166220 TBX20,TBX20 EXON Missense_N157S,Missense_N157S exm614113 7 35289756 [T/C] NM_001077653,NM_001166220 TBX20,TBX20 EXON Missense_A63T,Missense_A63T exm-rs1362212 7 35305306 [A/G] exm2258322 7 35332117 [T/C] exm-rs2392362 7 35401447 [T/C] NR_038864 LOC401324 Silent exm2270742 7 35650563 [T/C] exm2245578 7 35677978 [A/T] NM_022373 HERPUD2 EXON Missense_H200L exm614144 7 35678023 [A/G] NM_022373 HERPUD2 EXON Missense_A185V exm614147 7 35707069 [A/G] NM_022373 HERPUD2 EXON Missense_H157Y exm614153 7 35709842 [T/C] NM_022373 HERPUD2 EXON Missense_A108T exm614157 7 35712840 [A/G] NM_022373 HERPUD2 EXON Missense_H66Y exm614165 7 35733865 [T/C] NM_022373 HERPUD2 EXON Missense_I26V exm614166 7 35733925 [A/T] NM_022373 HERPUD2 EXON Missense_M6L exm2266393 7 36079709 [A/G] exm-rs4302748 7 36191699 [A/G] exm2245580 7 36193992 [A/G] NM_030636 EEPD1 EXON Missense_H20R exm614202 7 36194028 [A/G] NM_030636 EEPD1 EXON Missense_N32S exm614203 7 36194063 [A/G] NM_030636 EEPD1 EXON Missense_T44A exm614219 7 36194484 [A/G] NM_030636 EEPD1 EXON Missense_N184S exm614233 7 36320799 [A/G] NM_030636 EEPD1 EXON Missense_V336I exm614235 7 36320821 [A/G] NM_030636 EEPD1 EXON Missense_S343N exm614237 7 36324325 [T/G] NM_030636 EEPD1 EXON Missense_A358S exm614242 7 36324388 [A/G] NM_030636 EEPD1 EXON Missense_G379R exm614251 7 36327317 [T/C] NM_030636 EEPD1 EXON Missense_P416S exm614252 7 36327335 [A/G] NM_030636 EEPD1 EXON Missense_D422N exm614253 7 36327344 [T/C] NM_030636 EEPD1 EXON Missense_R425W exm614259 7 36336700 [A/G] NM_030636 EEPD1 EXON Missense_A472T exm614260 7 36336701 [T/C] NM_030636 EEPD1 EXON Missense_A472V exm614273 7 36338753 [A/C] NM_030636 EEPD1 EXON Missense_P550T exm2148712 7 36338762 [A/G] NM_030636 EEPD1 EXON Missense_G553S exm2148717 7 36396593 [T/C] NM_015314,NM_001100425,NM_001199708,NM_001199706,NM_001199707 KIAA0895,KIAA0895,KIAA0895,KIAA0895,KIAA0895 EXON Missense_N211S,Missense_N262S,Missense_N111S,Missense_N211S,Missense_N249S exm614305 7 36396645 [T/C] NM_015314,NM_001100425,NM_001199708,NM_001199706,NM_001199707 KIAA0895,KIAA0895,KIAA0895,KIAA0895,KIAA0895 EXON Missense_T194A,Missense_T245A,Missense_T94A,Missense_T194A,Missense_T232A exm614306 7 36396664 [T/C] NM_015314,NM_001100425,NM_001199708,NM_001199706,NM_001199707 KIAA0895,KIAA0895,KIAA0895,KIAA0895,KIAA0895 EXON Missense_I187M,Missense_I238M,Missense_I87M,Missense_I187M,Missense_I225M exm614307 7 36396735 [G/C] NM_015314,NM_001100425,NM_001199708,NM_001199706,NM_001199707 KIAA0895,KIAA0895,KIAA0895,KIAA0895,KIAA0895 EXON Missense_P164A,Missense_P215A,Missense_P64A,Missense_P164A,Missense_P202A exm614312 7 36396795 [T/C] NM_015314,NM_001100425,NM_001199708,NM_001199706,NM_001199707 KIAA0895,KIAA0895,KIAA0895,KIAA0895,KIAA0895 EXON Missense_G144S,Missense_G195S,Missense_G44S,Missense_G144S,Missense_G182S exm614314 7 36396861 [T/C] NM_015314,NM_001100425,NM_001199708,NM_001199706,NM_001199707 KIAA0895,KIAA0895,KIAA0895,KIAA0895,KIAA0895 EXON Missense_V122I,Missense_V173I,Missense_V22I,Missense_V122I,Missense_V160I exm614315 7 36396869 [T/C] NM_015314,NM_001100425,NM_001199708,NM_001199706,NM_001199707 KIAA0895,KIAA0895,KIAA0895,KIAA0895,KIAA0895 EXON Missense_R119Q,Missense_R170Q,Missense_R19Q,Missense_R119Q,Missense_R157Q exm614324 7 36423527 [G/C] NM_001100425 KIAA0895 EXON Missense_R40T exm614326 7 36429635 [T/G] NM_001100425,NM_018685 KIAA0895,ANLN EXON Missense_R17S,Silent exm614335 7 36435887 [T/C] NM_018685 ANLN EXON Nonsense_R11X exm614338 7 36435894 [A/G] NM_018685 ANLN EXON Missense_R13H exm614341 7 36435951 [A/G] NM_018685 ANLN EXON Missense_R32K exm614342 7 36435956 [A/G] NM_018685 ANLN EXON Missense_M34V exm614344 7 36435999 [A/G] NM_018685 ANLN EXON Missense_S48N exm614345 7 36438706 [G/C] NM_018685 ANLN EXON Missense_P64R exm614346 7 36438709 [C/G] NM_018685 ANLN EXON Missense_S65W exm614357 7 36438949 [A/G] NM_018685 ANLN EXON Missense_R145H exm614362 7 36438987 [A/G] NM_018685 ANLN EXON Missense_N158D exm614363 7 36445826 [T/C] NM_018685 ANLN EXON Missense_P175L exm614365 7 36445856 [A/G] NM_018685 ANLN EXON Missense_R185K exm2148731 7 36445877 [C/G] NM_018685 ANLN EXON Missense_S192W exm614366 7 36445900 [A/G] NM_018685 ANLN EXON Missense_G200S exm614392 7 36450165 [A/G] NM_018685 ANLN EXON Missense_R380H exm614402 7 36450740 [A/G] NM_018685 ANLN EXON Missense_G454R exm2245584 7 36460340 [A/G] NM_018685 ANLN EXON Missense_K717R exm2148764 7 36462370 [T/C] NM_018685 ANLN EXON Missense_R810C exm614444 7 36462404 [T/C] NM_018685 ANLN EXON Missense_T821M exm614447 7 36463470 [A/G] NM_018685 ANLN EXON Missense_E841K exm614449 7 36463504 [T/C] NM_018685 ANLN EXON Missense_S852L exm614457 7 36465311 [A/G] NM_018685 ANLN EXON Missense_A904T exm614478 7 36489314 [A/G] NM_018685 ANLN EXON Missense_R1040H exm2148781 7 36489329 [T/C] NM_018685 ANLN EXON Missense_A1045V exm614488 7 36492157 [A/G] NM_018685 ANLN EXON Missense_D1108G exm614489 7 36492159 [A/G] NM_018685 ANLN EXON Missense_I1109V exm614503 7 36552772 [T/C] NM_001637,NM_001177506,NM_001177507 AOAH,AOAH,AOAH EXON Silent,Missense_V645I,Silent exm614506 7 36552790 [T/G] NM_001637,NM_001177506,NM_001177507 AOAH,AOAH,AOAH EXON Silent,Missense_P639T,Silent exm614513 7 36561649 [T/C] NM_001637,NM_001177506,NM_001177507 AOAH,AOAH,AOAH EXON Missense_N532S,Missense_N532S,Missense_N500S exm614515 7 36561680 [A/G] NM_001637,NM_001177506,NM_001177507 AOAH,AOAH,AOAH EXON Missense_L522F,Missense_L522F,Missense_L490F exm614516 7 36561695 [A/C] NM_001637,NM_001177506,NM_001177507 AOAH,AOAH,AOAH EXON Nonsense_G517X,Nonsense_G517X,Nonsense_G485X exm2266517 7 36566020 [A/G] NM_001637,NM_001177506,NM_001177507 AOAH,AOAH,AOAH Silent,Silent,Silent exm614529 7 36579939 [T/C] NM_001637,NM_001177506,NM_001177507 AOAH,AOAH,AOAH EXON Missense_R431K,Missense_R431K,Missense_R399K exm614533 7 36579986 [A/C] NM_001637,NM_001177506,NM_001177507 AOAH,AOAH,AOAH EXON Missense_L415F,Missense_L415F,Missense_L383F exm614537 7 36580092 [A/C] NM_001637,NM_001177506,NM_001177507 AOAH,AOAH,AOAH EXON Missense_S380I,Missense_S380I,Missense_S348I exm614538 7 36588221 [T/C] NM_001637,NM_001177506,NM_001177507 AOAH,AOAH,AOAH EXON Missense_S377N,Missense_S377N,Missense_S345N exm614540 7 36588239 [A/G] NM_001637,NM_001177506,NM_001177507 AOAH,AOAH,AOAH EXON Missense_I371T,Missense_I371T,Missense_I339T exm614541 7 36588255 [T/C] NM_001637,NM_001177506,NM_001177507 AOAH,AOAH,AOAH EXON Missense_V366I,Missense_V366I,Missense_V334I exm-rs6948404 7 36610493 [T/C] NM_001637,NM_001177506,NM_001177507 AOAH,AOAH,AOAH Silent,Silent,Silent exm614552 7 36616216 [A/G] NM_001637,NM_001177506,NM_001177507 AOAH,AOAH,AOAH EXON Missense_C329R,Missense_C329R,Missense_C297R exm2148811 7 36656027 [G/C] NM_001637,NM_001177506,NM_001177507 AOAH,AOAH,AOAH EXON Missense_H269D,Missense_H269D,Missense_H237D exm614565 7 36656035 [C/G] NM_001637,NM_001177506,NM_001177507 AOAH,AOAH,AOAH EXON Missense_A266G,Missense_A266G,Missense_A234G exm614569 7 36656071 [C/G] NM_001637,NM_001177506,NM_001177507 AOAH,AOAH,AOAH EXON Missense_P254R,Missense_P254R,Missense_P222R exm614570 7 36657926 [A/G] NM_001637,NM_001177506,NM_001177507 AOAH,AOAH,AOAH EXON Missense_P243L,Missense_P243L,Missense_P211L exm2148820 7 36662843 [A/C] NM_001637,NM_001177506,NM_001177507 AOAH,AOAH,AOAH EXON Missense_S179A,Missense_S179A,Missense_S147A exm614613 7 36763657 [A/G] NM_001637,NM_001177506,NM_001177507 AOAH,AOAH,AOAH EXON Missense_P33S,Missense_P33S,Missense_P33S exm614615 7 36763672 [T/C] NM_001637,NM_001177506,NM_001177507 AOAH,AOAH,AOAH EXON Missense_D28N,Missense_D28N,Missense_D28N exm614616 7 36763686 [T/G] NM_001637,NM_001177506,NM_001177507 AOAH,AOAH,AOAH EXON Missense_A23D,Missense_A23D,Missense_A23D exm614620 7 36763722 [A/G] NM_001637,NM_001177506,NM_001177507 AOAH,AOAH,AOAH EXON Missense_A11V,Missense_A11V,Missense_A11V exm2266394 7 36800555 [A/G] exm614628 7 36895292 [T/C] NM_001039459,NM_014800,NR_038120,NM_001206480,NR_038121,NM_001206482 ELMO1,ELMO1,ELMO1,ELMO1,ELMO1,ELMO1 EXON Missense_R203Q,Missense_R683Q,Silent,Missense_R683Q,Silent,Missense_R683Q exm2148842 7 36895295 [A/G] NM_001039459,NM_014800,NR_038120,NM_001206480,NR_038121,NM_001206482 ELMO1,ELMO1,ELMO1,ELMO1,ELMO1,ELMO1 EXON Missense_T202M,Missense_T682M,Silent,Missense_T682M,Silent,Missense_T682M exm614634 7 36901274 [T/C] NM_001039459,NM_014800,NR_038120,NM_001206480,NR_038121,NM_001206482 ELMO1,ELMO1,ELMO1,ELMO1,ELMO1,ELMO1 EXON Missense_D178G,Missense_D658G,Silent,Missense_D658G,Silent,Missense_D658G exm614636 7 36910058 [A/G] NM_001039459,NM_014800,NR_038120,NM_001206480,NR_038121,NM_001206482 ELMO1,ELMO1,ELMO1,ELMO1,ELMO1,ELMO1 EXON Synonymous_A135A,Synonymous_A615A,Silent,Synonymous_A615A,Silent,Synonymous_A615A exm2258327 7 36910058 [A/G] NM_001039459,NM_014800,NR_038120,NM_001206480,NR_038121,NM_001206482 ELMO1,ELMO1,ELMO1,ELMO1,ELMO1,ELMO1 EXON Synonymous_A135A,Synonymous_A615A,Silent,Synonymous_A615A,Silent,Synonymous_A615A exm614639 7 36917684 [A/C] NM_001039459,NM_014800,NR_038120,NM_001206480,NR_038121,NM_001206482 ELMO1,ELMO1,ELMO1,ELMO1,ELMO1,ELMO1 EXON Missense_V105F,Missense_V585F,Silent,Missense_V585F,Silent,Missense_V585F exm-rs741301 7 36917995 [T/C] NM_001039459,NM_014800,NR_038120,NM_001206480,NR_038121,NM_001206482 ELMO1,ELMO1,ELMO1,ELMO1,ELMO1,ELMO1 Silent,Silent,Silent,Silent,Silent,Silent exm614659 7 37053009 [T/C] NM_014800,NM_001206480,NM_001206482 ELMO1,ELMO1,ELMO1 EXON Missense_M444I,Missense_M444I,Missense_M444I exm-rs10488031 7 37076854 [A/G] NM_014800,NM_001206480,NM_001206482 ELMO1,ELMO1,ELMO1 Silent,Silent,Silent exm2148864 7 37136290 [A/G] NM_014800,NM_001206480,NM_001206482 ELMO1,ELMO1,ELMO1 EXON Missense_P412S,Missense_P412S,Missense_P412S exm614671 7 37251034 [T/C] NM_014800,NM_001206480,NM_001206482 ELMO1,ELMO1,ELMO1 EXON Missense_R348H,Missense_R348H,Missense_R348H exm-rs4723619 7 37266352 [T/C] NM_014800,NM_001206480,NM_001206482 ELMO1,ELMO1,ELMO1 Silent,Silent,Silent exm614711 7 37355534 [T/C] NM_014800,NM_001206480,NM_001206482 ELMO1,ELMO1,ELMO1 EXON Missense_V37I,Missense_V37I,Missense_V37I exm-rs6974491 7 37374510 [A/G] NM_014800,NM_001206480,NM_001206482 ELMO1,ELMO1,ELMO1 Silent,Silent,Silent exm-rs11984075 7 37436854 [A/G] NM_014800,NM_001206480 ELMO1,ELMO1 Silent,Silent exm2262306 7 37437969 [T/C] NM_014800,NM_001206480 ELMO1,ELMO1 Silent,Silent exm2270602 7 37524894 [T/C] exm614732 7 37780382 [A/T] NM_181791 GPR141 EXON Missense_K129N exm614736 7 37780395 [C/G] NM_181791 GPR141 EXON Missense_A134P exm614754 7 37780663 [A/C] NM_181791 GPR141 EXON Missense_A223D exm614759 7 37780753 [T/C] NM_181791 GPR141 EXON Missense_T253M exm614767 7 37780908 [T/C] NM_181791 GPR141 EXON Missense_R305C exm614777 7 37889885 [A/G] NM_016616 NME8 EXON Missense_R6Q exm2148910 7 37890034 [A/G] NM_016616 NME8 EXON Missense_T30A exm614782 7 37890267 [A/G] NM_016616 NME8 EXON Missense_R43K exm614787 7 37896903 [A/C] NM_016616 NME8 EXON Missense_Q76K exm614794 7 37901702 [A/G] NM_016616 NME8 EXON Missense_D115N exm2148925 7 37903050 [T/C] NM_016616 NME8 EXON Missense_P147L exm614799 7 37903064 [T/C] NM_016616 NME8 EXON Nonsense_Q152X exm614801 7 37903980 [T/C] NM_016616 NME8 EXON Missense_P162L exm614810 7 37905205 [T/C] NM_016616 NME8 EXON Nonsense_R203X exm614811 7 37905208 [A/G] NM_016616 NME8 EXON Missense_I204V exm614819 7 37907421 [A/G] NM_016616 NME8 EXON Missense_E247K exm614820 7 37907424 [A/C] NM_016616 NME8 EXON Missense_P248T exm614824 7 37916444 [T/C] NM_016616 NME8 EXON Missense_Y277H exm614828 7 37923917 [A/G] NM_016616 NME8 EXON Missense_R336H exm614829 7 37923923 [T/C] NM_016616 NME8 EXON Missense_I338T exm614835 7 37924000 [T/G] NM_016616 NME8 EXON Nonsense_E364X exm614838 7 37924776 [C/G] NM_016616 NME8 EXON Missense_R390T exm-rs935765 7 37925438 [T/C] NM_016616 NME8 Silent exm614850 7 37934073 [A/C] NM_016616 NME8 EXON Missense_I469L exm614853 7 37934146 [T/C] NM_016616 NME8 EXON Missense_I493T exm614860 7 37936527 [T/C] NM_016616 NME8 EXON Nonsense_R534X exm614864 7 37936570 [T/C] NM_016616 NME8 EXON Missense_S548F exm614865 7 37936584 [T/C] NM_016616 NME8 EXON Nonsense_R553X exm614872 7 37947103 [T/C] NM_003014 SFRP4 EXON Missense_R340K exm614875 7 37947164 [T/G] NM_003014 SFRP4 EXON Missense_P320T exm614881 7 37949282 [T/C] NM_003014 SFRP4 EXON Synonymous_R264R exm2266395 7 37951726 [A/G] NM_003014 SFRP4 EXON Synonymous_R262R exm614894 7 37953841 [A/G] NM_003014 SFRP4 EXON Missense_T189M exm614896 7 37953987 [A/G] NM_003014 SFRP4 EXON Missense_R172C exm614897 7 37954017 [A/G] NM_003014 SFRP4 EXON Nonsense_Q162X exm614905 7 37955830 [T/C] NM_003014 SFRP4 EXON Missense_A104T exm614921 7 37956136 [A/C] NM_003014 SFRP4 EXON Missense_F2V exm614923 7 37960206 [T/C] NM_017549,NM_001242946 EPDR1,EPDR1 EXON Silent,Silent exm614931 7 37960269 [T/C] NM_017549,NM_001242946 EPDR1,EPDR1 EXON Silent,Silent exm614933 7 37960275 [A/C] NM_017549,NM_001242946 EPDR1,EPDR1 EXON Silent,Silent exm614936 7 37960287 [C/G] NM_017549,NM_001242946 EPDR1,EPDR1 EXON Silent,Silent exm614937 7 37960291 [A/G] NM_017549,NM_001242946 EPDR1,EPDR1 EXON Silent,Silent exm614939 7 37960334 [G/C] NM_017549,NM_001242946 EPDR1,EPDR1 EXON Silent,Silent exm614960 7 37960781 [C/G] NM_017549,NM_001242946 EPDR1,EPDR1 EXON Missense_D80E,Missense_D80E exm614972 7 37988534 [T/C] NM_017549,NM_001242946,NM_001242948 EPDR1,EPDR1,EPDR1 EXON Missense_P121L,Silent,Missense_P60L exm614973 7 37988588 [T/C] NM_017549,NM_001242946,NM_001242948 EPDR1,EPDR1,EPDR1 EXON Missense_I139T,Silent,Missense_I78T exm2258330 7 37989911 [A/G] NM_017549,NM_001242946,NM_001242948 EPDR1,EPDR1,EPDR1 EXON Synonymous_L196L,Silent,Synonymous_L135L exm2245598 7 37989960 [A/G] NM_017549,NM_001242946,NM_001242948 EPDR1,EPDR1,EPDR1 EXON Missense_A213T,Silent,Missense_A152T exm614987 7 37989978 [A/C] NM_017549,NM_001242946,NM_001242948 EPDR1,EPDR1,EPDR1 EXON Missense_S219R,Silent,Missense_S158R exm-rs6959212 7 38128326 [T/C] exm-rs1524058 7 38136277 [T/C] exm614996 7 38247196 [A/G] NM_032016 STARD3NL EXON Missense_T31A exm615057 7 38299691 [A/T] NM_001003799,NM_001003806 TARP,TARP EXON Silent,Missense_X112K exm615064 7 38301801 [T/G] NM_001003799,NM_001003806 TARP,TARP EXON Silent,Missense_P55H exm615099 7 38313248 [T/C] NM_001003799,NM_001003806 TARP,TARP EXON Silent,Silent exm2262307 7 38331504 [T/C] exm615296 7 38424430 [A/G] NM_139316,NM_001635 AMPH,AMPH EXON Missense_R651C,Missense_R693C exm2274231 7 38431369 [A/G] NM_139316,NM_001635 AMPH,AMPH EXON Missense_P578S,Missense_P620S exm615307 7 38431385 [G/C] NM_139316,NM_001635 AMPH,AMPH EXON Missense_E572D,Missense_E614D exm615315 7 38431470 [A/G] NM_139316,NM_001635 AMPH,AMPH EXON Missense_T544M,Missense_T586M exm615323 7 38431594 [T/C] NM_139316,NM_001635 AMPH,AMPH EXON Missense_I503V,Missense_I545V exm2270603 7 38432937 [T/C] NM_139316,NM_001635 AMPH,AMPH Silent,Silent exm615331 7 38433726 [T/G] NM_139316,NM_001635 AMPH,AMPH EXON Missense_K454T,Missense_K496T exm615332 7 38433763 [A/C] NM_139316,NM_001635 AMPH,AMPH EXON Missense_A442S,Missense_A484S exm615334 7 38433795 [C/G] NM_139316,NM_001635 AMPH,AMPH EXON Missense_A431G,Missense_A473G exm615356 7 38469443 [A/G] NM_139316,NM_001635 AMPH,AMPH EXON Missense_P394L,Missense_P394L exm2149072 7 38471790 [A/G] NM_139316,NM_001635 AMPH,AMPH EXON Missense_T386M,Missense_T386M exm615363 7 38475878 [G/C] NM_139316,NM_001635 AMPH,AMPH EXON Missense_M376I,Missense_M376I exm2245601 7 38475964 [T/C] NM_139316,NM_001635 AMPH,AMPH EXON Missense_E348K,Missense_E348K exm615369 7 38500899 [A/G] NM_139316,NM_001635 AMPH,AMPH EXON Missense_V334A,Missense_V334A exm615382 7 38502634 [A/G] NM_139316,NM_001635 AMPH,AMPH EXON Missense_P277S,Missense_P277S exm615398 7 38505789 [T/C] NM_139316,NM_001635 AMPH,AMPH EXON Missense_H217R,Missense_H217R exm615417 7 38574539 [A/G] NM_139316,NM_001635 AMPH,AMPH EXON Missense_R48W,Missense_R48W exm2258332 7 38741626 [A/G] exm615443 7 38765883 [T/C] NM_014396,NM_080631 VPS41,VPS41 EXON Missense_R843H,Missense_R818H exm615455 7 38768312 [A/G] NM_014396,NM_080631 VPS41,VPS41 EXON Missense_M780T,Missense_M755T exm615468 7 38781705 [A/C] NM_014396,NM_080631 VPS41,VPS41 EXON Missense_L713F,Missense_L688F exm615474 7 38783140 [A/G] NM_014396,NM_080631 VPS41,VPS41 EXON Nonsense_R662X,Nonsense_R637X exm615482 7 38791870 [T/C] NM_014396,NM_080631 VPS41,VPS41 EXON Missense_R611H,Missense_R586H exm615484 7 38791906 [T/C] NM_014396,NM_080631 VPS41,VPS41 EXON Missense_H599R,Missense_H574R exm615505 7 38803086 [A/G] NM_014396,NM_080631 VPS41,VPS41 EXON Missense_I464T,Missense_I439T exm615508 7 38803147 [T/C] NM_014396,NM_080631 VPS41,VPS41 EXON Missense_A444T,Missense_A419T exm615509 7 38805215 [T/C] NM_014396,NM_080631 VPS41,VPS41 EXON Missense_E432K,Missense_E407K exm615512 7 38807138 [A/G] NM_014396,NM_080631 VPS41,VPS41 EXON Missense_R416C,Missense_R391C exm615521 7 38813720 [T/C] NM_014396,NM_080631 VPS41,VPS41 EXON Missense_H336R,Missense_H311R exm615525 7 38816280 [A/G] NM_014396,NM_080631 VPS41,VPS41 EXON Missense_T294M,Missense_T269M exm-rs11984145 7 38835035 [T/C] NM_014396,NM_080631 VPS41,VPS41 Silent,Silent exm615535 7 38835102 [T/C] NM_014396,NM_080631 VPS41,VPS41 EXON Missense_N227S,Missense_N202S exm615542 7 38835211 [T/C] NM_014396,NM_080631 VPS41,VPS41 EXON Missense_G191S,Missense_G166S exm-rs4723793 7 38845861 [A/G] NM_014396,NM_080631 VPS41,VPS41 Silent,Silent exm615557 7 38908754 [A/G] NM_014396,NM_080631 VPS41,VPS41 EXON Missense_H54Y,Missense_H54Y exm615558 7 38908759 [G/C] NM_014396,NM_080631 VPS41,VPS41 EXON Missense_T52R,Missense_T52R exm615571 7 38948758 [T/A] NM_014396,NM_080631 VPS41,VPS41 EXON Missense_E6V,Missense_E6V exm2270745 7 38972696 [T/G] exm615588 7 39125631 [A/G] NM_001166018,NM_007252 POU6F2,POU6F2 EXON Missense_G64R,Missense_G64R exm2274232 7 39243906 [A/C] NM_001166018,NM_007252 POU6F2,POU6F2 EXON Missense_P88Q,Missense_P88Q exm615615 7 39379431 [T/G] NM_001166018,NM_007252 POU6F2,POU6F2 EXON Missense_Q234H,Missense_Q234H exm615616 7 39379463 [T/C] NM_001166018,NM_007252 POU6F2,POU6F2 EXON Missense_A245V,Missense_A245V exm615622 7 39379547 [T/C] NM_001166018,NM_007252 POU6F2,POU6F2 EXON Missense_P273L,Missense_P273L exm615624 7 39379589 [T/C] NM_001166018,NM_007252 POU6F2,POU6F2 EXON Missense_P287L,Missense_P287L exm615627 7 39379598 [T/C] NM_001166018,NM_007252 POU6F2,POU6F2 EXON Missense_P290L,Missense_P290L exm2270604 7 39431315 [T/C] NM_001166018,NM_007252 POU6F2,POU6F2 Silent,Silent exm615651 7 39472874 [A/G] NM_001166018,NM_007252 POU6F2,POU6F2 EXON Missense_G409S,Missense_G409S exm615656 7 39491238 [G/C] NM_001166018,NM_007252 POU6F2,POU6F2 EXON Missense_A447G,Missense_A447G exm615660 7 39500263 [A/G] NM_001166018,NM_007252 POU6F2,POU6F2 EXON Missense_Q507R,Missense_Q507R exm615674 7 39504094 [A/C] NM_001166018,NM_007252 POU6F2,POU6F2 EXON Missense_N593H,Missense_N629H exm615675 7 39504124 [A/G] NM_001166018,NM_007252 POU6F2,POU6F2 EXON Missense_E603K,Missense_E639K exm615681 7 39504235 [A/C] NM_001166018,NM_007252 POU6F2,POU6F2 EXON Missense_T640P,Missense_T676P exm2149215 7 39606003 [A/G] NM_020192 YAE1D1 EXON Silent exm2275941 7 39606036 [A/G] NM_020192 YAE1D1 EXON Missense_A7T exm615687 7 39606054 [T/C] NM_020192 YAE1D1 EXON Missense_P13S exm2258334 7 39606074 [T/G] NM_020192 YAE1D1 EXON Synonymous_V19V exm615689 7 39606074 [T/G] NM_020192 YAE1D1 EXON Synonymous_V19V exm615696 7 39610177 [A/G] NM_020192 YAE1D1 EXON Missense_K68E exm2258335 7 39610188 [A/G] NM_020192 YAE1D1 EXON Synonymous_E71E exm615702 7 39611920 [T/C] NM_020192 YAE1D1 EXON Missense_L99S exm615708 7 39611992 [T/C] NM_020192 YAE1D1 EXON Missense_S123L exm615709 7 39611998 [T/C] NM_020192 YAE1D1 EXON Missense_T125I exm2149221 7 39612003 [T/C] NM_020192 YAE1D1 EXON Missense_P127S exm2149222 7 39612012 [T/G] NM_020192 YAE1D1 EXON Missense_V130F exm615716 7 39612084 [A/G] NM_020192 YAE1D1 EXON Missense_E154K exm615719 7 39612201 [T/C] NM_020192 YAE1D1 EXON Missense_H193Y exm615726 7 39726270 [A/G] NM_005402 RALA EXON Missense_A2T exm615756 7 39991072 [A/G] NM_003718,NM_031267 CDK13,CDK13 EXON Missense_A278T,Missense_A278T exm615780 7 39991447 [T/C] NM_003718,NM_031267 CDK13,CDK13 EXON Missense_L403F,Missense_L403F exm615792 7 40027445 [T/G] NM_003718,NM_031267 CDK13,CDK13 EXON Missense_A487S,Missense_A487S exm615793 7 40027452 [T/C] NM_003718,NM_031267 CDK13,CDK13 EXON Missense_A489V,Missense_A489V exm615794 7 40027484 [A/G] NM_003718,NM_031267 CDK13,CDK13 EXON Missense_T500A,Missense_T500A exm2245609 7 40027856 [A/G] NM_003718,NM_031267 CDK13,CDK13 EXON Missense_S624G,Missense_S624G exm615811 7 40037230 [C/G] NM_003718,NM_031267 CDK13,CDK13 EXON Missense_T670R,Missense_T670R exm615812 7 40037248 [A/G] NM_003718,NM_031267 CDK13,CDK13 EXON Missense_S676N,Missense_S676N exm615815 7 40039001 [T/C] NM_003718,NM_031267 CDK13,CDK13 EXON Missense_I695T,Missense_I695T exm615819 7 40039097 [T/C] NM_003718,NM_031267 CDK13,CDK13 EXON Missense_T727I,Missense_T727I exm615820 7 40039098 [T/G] NM_003718,NM_031267 CDK13,CDK13 EXON Synonymous_T727T,Synonymous_T727T exm615850 7 40127880 [T/C] NM_003718,NM_031267 CDK13,CDK13 EXON Missense_V1062A,Missense_V1062A exm615851 7 40132385 [A/G] NM_003718,NM_031267 CDK13,CDK13 EXON Synonymous_V1079V,Silent exm615855 7 40132549 [T/G] NM_003718,NM_031267 CDK13,CDK13 EXON Missense_G1134V,Silent exm615859 7 40132656 [A/G] NM_003718,NM_031267 CDK13,CDK13 EXON Missense_V1170M,Missense_V1110M exm2149310 7 40132789 [T/C] NM_003718,NM_031267 CDK13,CDK13 EXON Missense_A1214V,Missense_A1154V exm615867 7 40132828 [T/C] NM_003718,NM_031267 CDK13,CDK13 EXON Missense_P1227L,Missense_P1167L exm615880 7 40133995 [A/G] NM_003718,NM_031267 CDK13,CDK13 EXON Missense_G1319S,Missense_G1259S exm615887 7 40134095 [A/G] NM_003718,NM_031267 CDK13,CDK13 EXON Missense_N1352S,Missense_N1292S exm615888 7 40134109 [A/G] NM_003718,NM_031267 CDK13,CDK13 EXON Missense_S1357G,Missense_S1297G exm615892 7 40134161 [T/C] NM_003718,NM_031267 CDK13,CDK13 EXON Missense_I1374T,Missense_I1314T exm2273432 7 40134678 [A/G] NM_003718,NM_031267 CDK13,CDK13 EXON Silent,Silent exm615908 7 40172746 [G/C] NM_138701 MPLKIP EXON Missense_G151A exm615925 7 40174614 [T/C] NM_001193311,NM_001193313,NM_024728,NM_001193312 C7orf10,C7orf10,C7orf10,C7orf10 EXON Missense_H6Y,Missense_H6Y,Missense_H6Y,Missense_H6Y exm615929 7 40174711 [T/C] NM_001193311,NM_001193313,NM_024728,NM_001193312 C7orf10,C7orf10,C7orf10,C7orf10 EXON Missense_P38L,Missense_P38L,Missense_P38L,Missense_P38L exm615932 7 40220571 [A/C] NM_001193311,NM_001193313,NM_024728,NM_001193312 C7orf10,C7orf10,C7orf10,C7orf10 EXON Missense_E49D,Missense_E49D,Missense_E49D,Missense_E49D exm615933 7 40220598 [A/G] NM_001193311,NM_001193313,NM_024728,NM_001193312 C7orf10,C7orf10,C7orf10,C7orf10 Silent,Silent,Silent,Silent exm615936 7 40221593 [A/T] NM_001193311,NM_001193313,NM_024728,NM_001193312 C7orf10,C7orf10,C7orf10,C7orf10 EXON Missense_D71E,Missense_D71E,Missense_D71E,Missense_D71E exm615939 7 40228112 [G/C] NM_001193311,NM_001193313,NM_024728,NM_001193312 C7orf10,C7orf10,C7orf10,C7orf10 EXON Missense_R89P,Missense_R89P,Missense_R89P,Missense_R89P exm615941 7 40228168 [T/C] NM_001193311,NM_001193313,NM_024728,NM_001193312 C7orf10,C7orf10,C7orf10,C7orf10 EXON Nonsense_R108X,Nonsense_R108X,Nonsense_R108X,Nonsense_R108X exm615950 7 40234653 [A/C] NM_001193311,NM_001193313,NM_024728,NM_001193312 C7orf10,C7orf10,C7orf10,C7orf10 EXON Missense_I167L,Missense_I167L,Missense_I130L,Missense_I167L exm2270606 7 40259553 [T/G] NM_001193311,NM_001193313,NM_024728,NM_001193312 C7orf10,C7orf10,C7orf10,C7orf10 Silent,Silent,Silent,Silent exm615957 7 40277288 [T/C] NM_001193311,NM_001193313,NM_024728,NM_001193312 C7orf10,C7orf10,C7orf10,C7orf10 EXON Missense_S187L,Missense_S187L,Missense_S150L,Missense_S187L exm615973 7 40498796 [T/C] NM_001193311,NM_001193313,NM_024728,NM_001193312 C7orf10,C7orf10,C7orf10,C7orf10 EXON Missense_R336W,Missense_R336W,Missense_R299W,Missense_R288W exm615974 7 40535883 [A/G] NM_001193311,NM_001193313,NM_024728,NM_001193312 C7orf10,C7orf10,C7orf10,C7orf10 EXON Synonymous_R336R,Synonymous_R336R,Synonymous_R299R,Synonymous_R288R exm2266397 7 40796618 [A/G] NM_001193311,NM_001193313,NM_024728,NM_001193312 C7orf10,C7orf10,C7orf10,C7orf10 Silent,Silent,Silent,Silent exm615988 7 40899987 [T/C] NM_001193311,NM_001193313,NM_024728,NM_001193312 C7orf10,C7orf10,C7orf10,C7orf10 EXON Missense_T442M,Missense_T416M,Missense_T405M,Missense_T368M exm2266398 7 41072834 [A/G] exm2262311 7 41417008 [T/G] exm-rs1079866 7 41470093 [C/G] exm-rs10486715 7 41478608 [A/G] exm616006 7 41729529 [T/C] NM_002192 INHBA EXON Missense_G334S exm616015 7 41729843 [T/C] NM_002192 INHBA EXON Missense_R229Q exm616020 7 41729942 [T/C] NM_002192 INHBA EXON Missense_G196D exm616028 7 41730125 [A/G] NM_002192 INHBA EXON Missense_T135M exm2266399 7 41806378 [A/G] NR_027118 INHBA-AS1 Silent exm2270748 7 41988488 [T/C] exm2270607 7 41994837 [T/C] exm2273433 7 42003792 [A/T] NM_000168 GLI3 EXON Silent exm616048 7 42004017 [T/G] NM_000168 GLI3 EXON Missense_M1552L exm616052 7 42004062 [A/G] NM_000168 GLI3 EXON Missense_R1537C exm616055 7 42004161 [T/G] NM_000168 GLI3 EXON Missense_I1504L exm616056 7 42004244 [T/A] NM_000168 GLI3 EXON Missense_N1476I exm616071 7 42004664 [T/C] NM_000168 GLI3 EXON Missense_G1336E exm616076 7 42004736 [A/C] NM_000168 GLI3 EXON Missense_M1312R exm616090 7 42004904 [T/C] NM_000168 GLI3 EXON Missense_N1256S exm616100 7 42005007 [A/G] NM_000168 GLI3 EXON Missense_P1222S exm616105 7 42005073 [C/G] NM_000168 GLI3 EXON Missense_H1200D exm616129 7 42005522 [A/G] NM_000168 GLI3 EXON Missense_T1050M exm616164 7 42007201 [T/C] NM_000168 GLI3 EXON Missense_I808M exm616177 7 42007380 [T/C] NM_000168 GLI3 EXON Missense_I749V exm616185 7 42007446 [T/C] NM_000168 GLI3 EXON Missense_G727R exm616186 7 42007460 [T/C] NM_000168 GLI3 EXON Missense_N722S exm616189 7 42011956 [T/C] NM_000168 GLI3 EXON Missense_V695I exm616193 7 42012033 [A/G] NM_000168 GLI3 EXON Missense_T669I exm616216 7 42018305 [T/C] NM_000168 GLI3 EXON Missense_V514M exm616224 7 42063171 [G/C] NM_000168 GLI3 EXON Missense_G465R exm616234 7 42065833 [T/C] NM_000168 GLI3 EXON Missense_V403I exm616265 7 42088204 [A/G] NM_000168 GLI3 EXON Missense_P189S exm616266 7 42088222 [T/C] NM_000168 GLI3 EXON Missense_T183A exm616267 7 42088230 [T/C] NM_000168 GLI3 EXON Missense_R180Q exm616277 7 42187851 [T/C] NM_000168 GLI3 EXON Missense_R114K exm2258342 7 42684510 [A/G] exm2270749 7 42906793 [T/C] exm616311 7 42949727 [T/C] NM_024054,NM_001099858 C7orf25,C7orf25 EXON Missense_Y258C,Missense_Y316C exm616314 7 42949757 [A/G] NM_024054,NM_001099858 C7orf25,C7orf25 EXON Missense_V248A,Missense_V306A exm616315 7 42949773 [T/C] NM_024054,NM_001099858 C7orf25,C7orf25 EXON Missense_D243N,Missense_D301N exm616380 7 42971998 [A/G] NM_031903 MRPL32 EXON Missense_M5V exm616385 7 42972034 [T/C] NM_031903 MRPL32 EXON Missense_R17W exm616386 7 42972038 [A/G] NM_031903 MRPL32 EXON Missense_G18E exm616389 7 42972086 [A/G] NM_031903 MRPL32 EXON Missense_S34N exm616396 7 42974694 [T/C] NM_031903 MRPL32 EXON Missense_R91W exm616397 7 42974695 [A/G] NM_031903 MRPL32 EXON Missense_R91Q exm616408 7 42976985 [A/G] NM_031903 MRPL32 EXON Missense_C126Y exm616411 7 42977060 [T/C] NM_031903 MRPL32 EXON Missense_A151V exm616418 7 42977150 [A/G] NM_031903 MRPL32 EXON Missense_R181Q exm2258343 7 43267757 [A/G] NM_015052 HECW1 Silent exm2245624 7 43351401 [A/G] NM_015052 HECW1 EXON Missense_A23T exm616425 7 43351410 [T/G] NM_015052 HECW1 EXON Missense_S26A exm616429 7 43351495 [C/G] NM_015052 HECW1 EXON Missense_R54T exm616443 7 43436443 [A/G] NM_015052 HECW1 EXON Missense_V196I exm616463 7 43483897 [A/G] NM_015052 HECW1 EXON Missense_G376S exm616465 7 43483981 [C/G] NM_015052 HECW1 EXON Missense_G404R exm2149628 7 43484218 [A/G] NM_015052 HECW1 EXON Missense_K483E exm616475 7 43484267 [A/G] NM_015052 HECW1 EXON Missense_R499K exm616476 7 43484275 [C/G] NM_015052 HECW1 EXON Missense_E502Q exm616485 7 43484498 [A/G] NM_015052 HECW1 EXON Missense_G576D exm616489 7 43484591 [T/C] NM_015052 HECW1 EXON Missense_A607V exm616493 7 43484651 [T/C] NM_015052 HECW1 EXON Missense_T627M exm616515 7 43490438 [A/G] NM_015052 HECW1 EXON Missense_I804V exm2149644 7 43495897 [T/C] NM_015052 HECW1 EXON Synonymous_N834N exm2245626 7 43495976 [A/C] NM_015052 HECW1 EXON Missense_T861P exm616522 7 43503326 [A/G] NM_015052 HECW1 EXON Missense_E907K exm616523 7 43503350 [A/G] NM_015052 HECW1 EXON Missense_G915R exm616530 7 43506167 [T/C] NM_015052 HECW1 EXON Synonymous_Y971Y exm616536 7 43508607 [A/G] NM_015052 HECW1 EXON Missense_Q1001R exm616539 7 43508620 [G/C] NM_015052 HECW1 EXON Missense_D1005E exm616554 7 43531711 [T/G] NM_015052 HECW1 EXON Missense_L1091R exm616556 7 43531734 [C/G] NM_015052 HECW1 EXON Missense_V1099L exm616576 7 43547628 [A/G] NM_015052 HECW1 EXON Missense_R1255H exm616611 7 43594284 [T/C] NM_015052 HECW1 EXON Missense_T1535M exm616634 7 43635583 [A/G] NM_004760 STK17A EXON Missense_K97R exm616638 7 43635671 [A/C] NM_004760 STK17A EXON Missense_E126D exm2149693 7 43647859 [A/G] NM_004760 STK17A EXON Missense_A142T exm616643 7 43647893 [A/G] NM_004760 STK17A EXON Missense_D153G exm616644 7 43647938 [A/G] NM_004760 STK17A EXON Missense_R168Q exm616647 7 43659242 [A/T] NM_004760 STK17A EXON Missense_K204M exm2258344 7 43663184 [T/C] NM_004760 STK17A EXON Synonymous_L235L exm616651 7 43663216 [T/C] NM_004760 STK17A EXON Missense_M246T exm616658 7 43663423 [G/C] NM_004760 STK17A EXON Missense_E286Q exm616670 7 43664280 [A/G] NM_004760 STK17A EXON Missense_K362E exm2149706 7 43664290 [T/C] NM_004760 STK17A EXON Missense_I365T exm616672 7 43664362 [T/C] NM_004760 STK17A EXON Missense_M389T exm616695 7 43684912 [A/G] NR_047701,NM_018224 COA1,COA1 EXON Silent,Missense_L68F exm616709 7 43687233 [A/T] NR_047701,NM_018224 COA1,COA1 EXON Silent,Missense_Y6N exm616714 7 43810764 [A/G] NM_000712,NM_001253823 BLVRA,BLVRA EXON Missense_A3T,Missense_A3T exm616721 7 43827548 [A/G] NM_000712,NM_001253823 BLVRA,BLVRA EXON Missense_G20S,Missense_G20S exm616725 7 43827617 [A/G] NM_000712,NM_001253823 BLVRA,BLVRA EXON Missense_V43M,Missense_V43M exm616726 7 43830867 [A/G] NM_000712,NM_001253823 BLVRA,BLVRA EXON Missense_D52N,Missense_D52N exm616727 7 43830880 [A/G] NM_000712,NM_001253823 BLVRA,BLVRA EXON Missense_Q56R,Missense_Q56R exm616729 7 43830928 [A/G] NM_000712,NM_001253823 BLVRA,BLVRA EXON Missense_Y72C,Missense_Y72C exm616738 7 43832370 [T/C] NM_000712,NM_001253823 BLVRA,BLVRA EXON Missense_L104S,Missense_L104S exm616739 7 43832373 [T/C] NM_000712,NM_001253823 BLVRA,BLVRA EXON Missense_A105V,Missense_A105V exm616744 7 43840111 [A/G] NM_000712,NM_001253823 BLVRA,BLVRA EXON Missense_A134T,Missense_A134T exm616747 7 43843296 [A/G] NM_000712,NM_001253823 BLVRA,BLVRA EXON Missense_R161Q,Missense_R161Q exm616757 7 43846617 [A/G] NM_000712,NM_001253823 BLVRA,BLVRA EXON Missense_R225Q,Missense_R225Q exm616763 7 43846772 [T/C] NM_000712,NM_001253823 BLVRA,BLVRA EXON Missense_R277C,Missense_R277C exm616767 7 43906345 [A/G] NM_032014,NM_001204871 MRPS24,URGCP-MRPS24 EXON Missense_L153F,Silent exm616772 7 43906465 [A/G] NM_032014,NM_001204871 MRPS24,URGCP-MRPS24 EXON Missense_R113W,Silent exm616774 7 43906513 [A/G] NM_032014,NM_001204871 MRPS24,URGCP-MRPS24 EXON Missense_W97R,Silent exm616778 7 43908661 [T/G] NM_032014,NM_001204871 MRPS24,URGCP-MRPS24 EXON Synonymous_R41R,Missense_P86Q exm616783 7 43908975 [A/C] NM_032014,NM_001204871 MRPS24,URGCP-MRPS24 EXON Missense_V14L,Missense_G59V exm616803 7 43916483 [T/C] NM_001204871,NM_001077664,NM_001077663,NM_017920 URGCP-MRPS24,URGCP,URGCP,URGCP EXON Silent,Missense_R817Q,Missense_R860Q,Missense_R851Q exm616819 7 43916708 [A/G] NM_001204871,NM_001077664,NM_001077663,NM_017920 URGCP-MRPS24,URGCP,URGCP,URGCP EXON Silent,Missense_T742I,Missense_T785I,Missense_T776I exm616821 7 43916727 [T/G] NM_001204871,NM_001077664,NM_001077663,NM_017920 URGCP-MRPS24,URGCP,URGCP,URGCP EXON Silent,Missense_M736L,Missense_M779L,Missense_M770L exm616822 7 43916738 [A/G] NM_001204871,NM_001077664,NM_001077663,NM_017920 URGCP-MRPS24,URGCP,URGCP,URGCP EXON Silent,Missense_A732V,Missense_A775V,Missense_A766V exm616826 7 43916784 [A/C] NM_001204871,NM_001077664,NM_001077663,NM_017920 URGCP-MRPS24,URGCP,URGCP,URGCP EXON Silent,Missense_A717S,Missense_A760S,Missense_A751S exm616838 7 43917012 [T/C] NM_001204871,NM_001077664,NM_001077663,NM_017920 URGCP-MRPS24,URGCP,URGCP,URGCP EXON Silent,Missense_V641I,Missense_V684I,Missense_V675I exm616842 7 43917056 [T/C] NM_001204871,NM_001077664,NM_001077663,NM_017920 URGCP-MRPS24,URGCP,URGCP,URGCP EXON Silent,Missense_S626N,Missense_S669N,Missense_S660N exm2149758 7 43917387 [A/G] NM_001204871,NM_001077664,NM_001077663,NM_017920 URGCP-MRPS24,URGCP,URGCP,URGCP EXON Silent,Missense_S516P,Missense_S559P,Missense_S550P exm2149761 7 43917743 [T/C] NM_001204871,NM_001077664,NM_001077663,NM_017920 URGCP-MRPS24,URGCP,URGCP,URGCP EXON Silent,Missense_R397Q,Missense_R440Q,Missense_R431Q exm616875 7 43917767 [T/C] NM_001204871,NM_001077664,NM_001077663,NM_017920 URGCP-MRPS24,URGCP,URGCP,URGCP EXON Silent,Missense_R389Q,Missense_R432Q,Missense_R423Q exm616876 7 43917785 [T/C] NM_001204871,NM_001077664,NM_001077663,NM_017920 URGCP-MRPS24,URGCP,URGCP,URGCP EXON Silent,Missense_S383N,Missense_S426N,Missense_S417N exm616890 7 43918208 [A/G] NM_001204871,NM_001077664,NM_001077663,NM_017920 URGCP-MRPS24,URGCP,URGCP,URGCP EXON Silent,Missense_P242L,Missense_P285L,Missense_P276L exm616891 7 43918278 [T/C] NM_001204871,NM_001077664,NM_001077663,NM_017920 URGCP-MRPS24,URGCP,URGCP,URGCP EXON Silent,Missense_A219T,Missense_A262T,Missense_A253T exm616897 7 43918355 [T/A] NM_001204871,NM_001077664,NM_001077663,NM_017920 URGCP-MRPS24,URGCP,URGCP,URGCP EXON Silent,Missense_V193E,Missense_V236E,Missense_V227E exm616915 7 43921259 [T/G] NM_001204871,NM_001077664,NM_001077663,NM_017920 URGCP-MRPS24,URGCP,URGCP,URGCP EXON Synonymous_T58T,Synonymous_T24T,Synonymous_T67T,Synonymous_T58T exm616916 7 43921261 [T/C] NM_001204871,NM_001077664,NM_001077663,NM_017920 URGCP-MRPS24,URGCP,URGCP,URGCP EXON Missense_T58A,Missense_T24A,Missense_T67A,Missense_T58A exm616929 7 43978084 [A/G] NM_015983 UBE2D4 EXON Missense_G27S exm2258346 7 43980540 [T/G] NM_015983,NR_003655 UBE2D4,POLR2J4 EXON Silent,Silent exm617045 7 44092484 [G/C] NM_001122956,NM_001014436,NM_014063 DBNL,DBNL,DBNL EXON Missense_D91H,Missense_D91H,Missense_D91H exm617054 7 44096482 [A/G] NM_001122956,NM_001014436,NM_014063 DBNL,DBNL,DBNL EXON Missense_V152M,Missense_V152M,Missense_V152M exm2245642 7 44097804 [A/G] NM_001122956,NM_001014436,NM_014063 DBNL,DBNL,DBNL EXON Missense_R210Q,Missense_R210Q,Missense_R210Q exm617070 7 44097845 [T/C] NM_001122956,NM_001014436,NM_014063 DBNL,DBNL,DBNL EXON Missense_Y224H,Missense_Y224H,Missense_Y224H exm617071 7 44098033 [T/C] NM_001122956,NM_001014436,NM_014063 DBNL,DBNL,DBNL EXON Missense_T237M,Missense_T236M,Missense_T237M exm617076 7 44098510 [A/G] NM_001122956,NM_001014436,NM_014063 DBNL,DBNL,DBNL EXON Missense_V264M,Missense_V255M,Missense_V256M exm617085 7 44099003 [G/C] NM_001122956,NM_001014436,NM_014063 DBNL,DBNL,DBNL EXON Missense_H305D,Missense_H296D,Missense_H297D exm617086 7 44099015 [C/G] NM_001122956,NM_001014436,NM_014063 DBNL,DBNL,DBNL EXON Missense_E309Q,Missense_E300Q,Missense_E301Q exm617088 7 44099160 [T/C] NM_001122956,NM_001014436,NM_014063 DBNL,DBNL,DBNL EXON Missense_P326L,Missense_P317L,Missense_P318L exm617100 7 44100377 [T/C] NM_001122956,NM_001014436,NM_014063 DBNL,DBNL,DBNL EXON Synonymous_A394A,Synonymous_A385A,Synonymous_A386A exm617111 7 44102412 [A/G] NM_000290 PGAM2 EXON Missense_T238M exm617113 7 44102419 [T/C] NM_000290 PGAM2 EXON Missense_E236K exm617117 7 44104431 [A/C] NM_000290 PGAM2 EXON Missense_G199W exm617126 7 44104525 [A/C] NM_000290 PGAM2 EXON Missense_W167C exm617137 7 44104788 [A/C] NM_000290 PGAM2 EXON Missense_I114S exm617139 7 44104819 [T/C] NM_000290 PGAM2 EXON Missense_A104T exm617141 7 44104839 [T/C] NM_000290 PGAM2 EXON Missense_G97D exm617148 7 44104881 [T/C] NM_000290 PGAM2 EXON Missense_R83H exm617149 7 44104896 [T/C] NM_000290 PGAM2 EXON Nonsense_W78X exm617156 7 44105010 [T/C] NM_000290 PGAM2 EXON Missense_R40Q exm617159 7 44105053 [A/C] NM_000290 PGAM2 EXON Missense_F26V exm617189 7 44113743 [T/C] NM_013284 POLM EXON Missense_R353H exm617191 7 44113749 [A/G] NM_013284 POLM EXON Missense_M351T exm617198 7 44114064 [T/C] NM_013284 POLM EXON Missense_V301M exm617203 7 44116110 [A/G] NM_013284 POLM EXON Missense_A278V exm617208 7 44116207 [A/C] NM_013284 POLM EXON Missense_V246F exm617217 7 44118394 [C/G] NM_013284 POLM EXON Missense_G220A exm617221 7 44119261 [A/G] NM_013284 POLM EXON Missense_S184L exm2266402 7 44134391 [A/G] exm617254 7 44146151 [T/C] NM_001129 AEBP1 EXON Missense_P87L exm617265 7 44146451 [G/C] NM_001129 AEBP1 EXON Missense_P187R exm617269 7 44147041 [T/C] NM_001129 AEBP1 EXON Missense_A200V exm2149881 7 44147293 [A/G] NM_001129 AEBP1 EXON Missense_E245K exm617285 7 44147299 [T/C] NM_001129 AEBP1 EXON Missense_F247L exm617288 7 44147423 [A/G] NM_001129 AEBP1 EXON Missense_R252H exm617296 7 44147662 [A/G] NM_001129 AEBP1 EXON Missense_V307M exm617299 7 44148522 [T/C] NM_001129 AEBP1 EXON Missense_P322L exm617306 7 44148893 [A/G] NM_001129 AEBP1 EXON Missense_R368Q exm617323 7 44149875 [T/A] NM_001129 AEBP1 EXON Missense_I444L exm617325 7 44149903 [A/G] NM_001129 AEBP1 EXON Missense_R453Q exm617328 7 44150341 [C/G] NM_001129 AEBP1 EXON Missense_T473S exm617333 7 44150567 [T/C] NM_001129 AEBP1 EXON Missense_P514L exm617346 7 44151185 [T/G] NM_001129 AEBP1 EXON Missense_I599S exm617364 7 44152266 [T/C] NM_001129 AEBP1 EXON Missense_A776V exm617369 7 44152424 [A/C] NM_001129 AEBP1 EXON Missense_P829T exm617371 7 44152500 [T/G] NM_001129 AEBP1 EXON Missense_R854L exm617382 7 44152900 [T/C] NM_001129 AEBP1 EXON Missense_I920T exm617397 7 44153427 [A/T] NM_001129 AEBP1 EXON Missense_Q1015L exm617398 7 44153474 [A/G] NM_001129 AEBP1 EXON Missense_A1031T exm617420 7 44153780 [A/G] NM_001129 AEBP1 EXON Missense_K1133E exm617424 7 44153825 [A/G] NM_001129 AEBP1 EXON Missense_V1148I exm617446 7 44155451 [T/C] NM_001256879,NM_006230,NM_001127218 POLD2,POLD2,POLD2 EXON Missense_R354Q,Missense_R389Q,Missense_R354Q exm617464 7 44156484 [T/C] NM_001256879,NM_006230,NM_001127218 POLD2,POLD2,POLD2 EXON Missense_V238I,Missense_V273I,Missense_V238I exm617473 7 44156811 [C/G] NM_001256879,NM_006230,NM_001127218 POLD2,POLD2,POLD2 EXON Missense_D168H,Missense_D203H,Missense_D168H exm617487 7 44157322 [A/G] NM_001256879,NM_006230,NM_001127218 POLD2,POLD2,POLD2 EXON Missense_P121L,Missense_P156L,Missense_P121L exm617509 7 44178576 [T/C] NM_021223 MYL7 EXON Missense_I158V exm617511 7 44178584 [A/G] NM_021223 MYL7 EXON Missense_A155V exm617523 7 44179406 [T/C] NM_021223 MYL7 EXON Missense_G118S exm617526 7 44179448 [T/C] NM_021223 MYL7 EXON Missense_E104K exm617549 7 44180644 [A/C] NM_021223 MYL7 EXON Missense_K11N exm2266519 7 44183187 [A/G] exm617581 7 44187277 [C/G] NM_033508,NM_000162,NM_033507 GCK,GCK,GCK EXON Missense_E278Q,Missense_E279Q,Missense_E280Q exm617588 7 44189389 [T/C] NM_033508,NM_000162,NM_033507 GCK,GCK,GCK EXON Missense_D216N,Missense_D217N,Missense_D218N exm-rs730497 7 44223721 [A/G] NM_000162 GCK Silent exm617623 7 44228522 [T/C] NM_000162 GCK EXON Missense_A11T exm617624 7 44228543 [T/C] NM_000162 GCK EXON Missense_D4N exm-rs1799884 7 44229068 [T/C] exm-rs6975024 7 44231886 [T/C] exm-rs4607517 7 44235668 [A/G] exm617632 7 44240759 [T/C] NM_006555 YKT6 EXON Missense_L9F exm617633 7 44240763 [A/G] NM_006555 YKT6 EXON Missense_Y10C exm617637 7 44240807 [A/G] NM_006555 YKT6 EXON Missense_V25M exm617642 7 44244169 [T/C] NM_006555 YKT6 EXON Missense_V36A exm617646 7 44245987 [A/G] NM_006555 YKT6 EXON Missense_Y64C exm617665 7 44259762 [T/G] NM_001220,NM_172080,NM_172081,NM_172084,NM_172083,NM_172082,NM_172079,NM_172078 CAMK2B,CAMK2B,CAMK2B,CAMK2B,CAMK2B,CAMK2B,CAMK2B,CAMK2B EXON Missense_T634P,Missense_T485P,Missense_T471P,Missense_T417P,Missense_T447P,Missense_T460P,Missense_T486P,Missense_T510P exm2258348 7 44282204 [T/C] NM_001220,NM_172080,NM_172081,NM_172084,NM_172083,NM_172082,NM_172079,NM_172078 CAMK2B,CAMK2B,CAMK2B,CAMK2B,CAMK2B,CAMK2B,CAMK2B,CAMK2B EXON Synonymous_E217E,Synonymous_E217E,Synonymous_E217E,Synonymous_E217E,Synonymous_E217E,Synonymous_E217E,Synonymous_E217E,Synonymous_E217E exm617770 7 44431912 [A/G] NM_015332 NUDCD3 EXON Missense_P320L exm617773 7 44431978 [T/C] NM_015332 NUDCD3 EXON Missense_D298G exm617785 7 44444119 [T/C] NM_015332 NUDCD3 EXON Missense_V236I exm617788 7 44444122 [A/G] NM_015332 NUDCD3 EXON Missense_R235C exm617819 7 44524577 [T/C] NM_015332 NUDCD3 EXON Missense_I167V exm617825 7 44524708 [A/T] NM_015332 NUDCD3 EXON Missense_E123V exm617826 7 44524709 [T/C] NM_015332 NUDCD3 EXON Missense_E123K exm2245655 7 44524781 [A/C] NM_015332 NUDCD3 EXON Missense_V99L exm2258349 7 44530098 [A/G] NM_015332 NUDCD3 EXON Synonymous_L34L exm617849 7 44530159 [A/C] NM_015332 NUDCD3 EXON Missense_L14W exm617863 7 44553204 [T/C] NM_001101648,NM_013389 NPC1L1,NPC1L1 EXON Missense_E1281K,Missense_E1308K exm617866 7 44553233 [A/G] NM_001101648,NM_013389 NPC1L1,NPC1L1 EXON Missense_P1271L,Missense_P1298L exm2150099 7 44555510 [A/C] NM_001101648,NM_013389 NPC1L1,NPC1L1 EXON Missense_A1230S,Missense_A1257S exm617882 7 44555699 [T/A] NM_001101648,NM_013389 NPC1L1,NPC1L1 EXON Missense_I1206N,Missense_I1233N exm2150102 7 44556373 [T/C] NM_001101648,NM_013389 NPC1L1,NPC1L1 EXON Missense_V1150M,Missense_V1177M exm617895 7 44556415 [A/G] NM_001101648,NM_013389 NPC1L1,NPC1L1 EXON Missense_R1136C,Missense_R1163C exm2150107 7 44556509 [C/G] NM_001101648,NM_013389 NPC1L1,NPC1L1 EXON Missense_Q1104H,Missense_Q1131H exm617899 7 44556834 [G/C] NM_001101648,NM_013389 NPC1L1,NPC1L1 EXON Missense_D1087H,Missense_D1114H exm617903 7 44556893 [T/C] NM_001101648,NM_013389 NPC1L1,NPC1L1 EXON Missense_R1067Q,Missense_R1094Q exm617915 7 44560678 [A/G] NM_001101648,NM_013389 NPC1L1,NPC1L1 EXON Missense_M998T,Missense_M998T exm617920 7 44561344 [A/G] NM_001101648,NM_013389 NPC1L1,NPC1L1 EXON Missense_P974S,Missense_P974S exm2258350 7 44571712 [C/G] NM_001101648,NM_013389 NPC1L1,NPC1L1 EXON Synonymous_P838P,Synonymous_P838P exm617952 7 44573130 [T/C] NM_001101648,NM_013389 NPC1L1,NPC1L1 EXON Missense_R770Q,Missense_R770Q exm617961 7 44574135 [A/G] NM_001101648,NM_013389 NPC1L1,NPC1L1 EXON Missense_R693C,Missense_R693C exm617983 7 44575899 [A/G] NM_001101648,NM_013389 NPC1L1,NPC1L1 EXON Nonsense_Q604X,Nonsense_Q604X exm617989 7 44576021 [T/C] NM_001101648,NM_013389 NPC1L1,NPC1L1 EXON Missense_D563G,Missense_D563G exm618001 7 44578500 [A/G] NM_001101648,NM_013389 NPC1L1,NPC1L1 EXON Missense_T499M,Missense_T499M exm618003 7 44578504 [A/G] NM_001101648,NM_013389 NPC1L1,NPC1L1 EXON Missense_R498C,Missense_R498C exm618007 7 44578608 [T/C] NM_001101648,NM_013389 NPC1L1,NPC1L1 EXON Missense_R463H,Missense_R463H exm618014 7 44578735 [T/C] NM_001101648,NM_013389 NPC1L1,NPC1L1 EXON Missense_R421G,Missense_R421G exm618015 7 44578747 [A/G] NM_001101648,NM_013389 NPC1L1,NPC1L1 EXON Missense_R417W,Missense_R417W exm618018 7 44578780 [A/G] NM_001101648,NM_013389 NPC1L1,NPC1L1 EXON Nonsense_R406X,Nonsense_R406X exm618021 7 44578812 [A/G] NM_001101648,NM_013389 NPC1L1,NPC1L1 EXON Missense_A395V,Missense_A395V exm618023 7 44578836 [T/C] NM_001101648,NM_013389 NPC1L1,NPC1L1 EXON Missense_N387S,Missense_N387S exm618028 7 44578918 [T/C] NM_001101648,NM_013389 NPC1L1,NPC1L1 EXON Missense_V360I,Missense_V360I exm618037 7 44579062 [C/G] NM_001101648,NM_013389 NPC1L1,NPC1L1 EXON Missense_D312H,Missense_D312H exm618038 7 44579068 [A/C] NM_001101648,NM_013389 NPC1L1,NPC1L1 EXON Missense_A310S,Missense_A310S exm618039 7 44579080 [A/G] NM_001101648,NM_013389 NPC1L1,NPC1L1 EXON Missense_R306C,Missense_R306C exm618047 7 44579179 [A/C] NM_001101648,NM_013389 NPC1L1,NPC1L1 EXON Missense_D273Y,Missense_D273Y exm-rs2072183 7 44579180 [G/C] NM_001101648,NM_013389 NPC1L1,NPC1L1 EXON Synonymous_L272L,Synonymous_L272L exm618049 7 44579184 [A/G] NM_001101648,NM_013389 NPC1L1,NPC1L1 EXON Missense_A271V,Missense_A271V exm618063 7 44579335 [A/G] NM_001101648,NM_013389 NPC1L1,NPC1L1 EXON Missense_H221Y,Missense_H221Y exm618066 7 44579394 [T/C] NM_001101648,NM_013389 NPC1L1,NPC1L1 EXON Missense_R201H,Missense_R201H exm618072 7 44579475 [T/C] NM_001101648,NM_013389 NPC1L1,NPC1L1 EXON Missense_R174H,Missense_R174H exm618075 7 44579523 [C/G] NM_001101648,NM_013389 NPC1L1,NPC1L1 EXON Missense_A158G,Missense_A158G exm618076 7 44579548 [A/G] NM_001101648,NM_013389 NPC1L1,NPC1L1 EXON Missense_L150F,Missense_L150F exm618078 7 44579575 [A/G] NM_001101648,NM_013389 NPC1L1,NPC1L1 EXON Missense_R141C,Missense_R141C exm618080 7 44579601 [T/C] NM_001101648,NM_013389 NPC1L1,NPC1L1 EXON Missense_N132S,Missense_N132S exm618084 7 44579668 [A/G] NM_001101648,NM_013389 NPC1L1,NPC1L1 EXON Missense_L110F,Missense_L110F exm618090 7 44579767 [T/C] NM_001101648,NM_013389 NPC1L1,NPC1L1 EXON Missense_I77V,Missense_I77V exm618094 7 44579797 [T/A] NM_001101648,NM_013389 NPC1L1,NPC1L1 EXON Missense_T67S,Missense_T67S exm618095 7 44579811 [A/G] NM_001101648,NM_013389 NPC1L1,NPC1L1 EXON Missense_P62L,Missense_P62L exm618096 7 44579814 [A/G] NM_001101648,NM_013389 NPC1L1,NPC1L1 EXON Missense_T61M,Missense_T61M exm618097 7 44579826 [T/C] NM_001101648,NM_013389 NPC1L1,NPC1L1 EXON Missense_C57Y,Missense_C57Y exm618100 7 44579847 [A/C] NM_001101648,NM_013389 NPC1L1,NPC1L1 EXON Missense_M50R,Missense_M50R exm618117 7 44605663 [T/G] NM_019082,NM_001257189 DDX56,DDX56 EXON Missense_N528H,Missense_N488H exm618123 7 44606089 [C/G] NM_019082,NM_001257189 DDX56,DDX56 EXON Missense_H508Q,Missense_H468Q exm618130 7 44607782 [T/C] NM_019082,NM_001257189 DDX56,DDX56 EXON Missense_R475Q,Missense_R435Q exm618137 7 44608766 [T/C] NM_019082,NM_001257189 DDX56,DDX56 EXON Missense_R419Q,Missense_R379Q exm2258351 7 44608785 [A/G] NM_019082,NM_001257189 DDX56,DDX56 EXON Synonymous_L413L,Synonymous_L373L exm618143 7 44609446 [T/C] NM_019082,NM_001257189 DDX56,DDX56 EXON Missense_Q394R,Missense_Q354R exm618148 7 44609623 [T/C] NM_019082,NM_001257189 DDX56,DDX56 EXON Missense_R372Q,Missense_R332Q exm618163 7 44610412 [T/C] NM_019082,NM_001257189 DDX56,DDX56 EXON Missense_V319I,Silent exm618170 7 44611157 [T/C] NM_019082,NM_001257189 DDX56,DDX56 EXON Missense_R275H,Missense_R275H exm618172 7 44611208 [T/C] NM_019082,NM_001257189 DDX56,DDX56 EXON Missense_R258Q,Missense_R258Q exm618173 7 44611235 [T/C] NM_019082,NM_001257189 DDX56,DDX56 EXON Missense_Y249C,Missense_Y249C exm618178 7 44611987 [T/C] NM_019082,NM_001257189 DDX56,DDX56 EXON Missense_E202K,Missense_E202K exm618181 7 44612026 [A/G] NM_019082,NM_001257189 DDX56,DDX56 EXON Missense_R189W,Missense_R189W exm618217 7 44619215 [A/G] NM_182547 TMED4 EXON Missense_R183C exm618219 7 44620705 [T/C] NM_182547 TMED4 EXON Missense_Q174R exm618244 7 44663949 [T/C] NM_001003941,NM_002541,NM_001165036 OGDH,OGDH,OGDH EXON Missense_H3Y,Missense_H3Y,Missense_H3Y exm618248 7 44664022 [T/G] NM_001003941,NM_002541,NM_001165036 OGDH,OGDH,OGDH EXON Missense_R27I,Missense_R27I,Missense_R27I exm618250 7 44664055 [A/G] NM_001003941,NM_002541,NM_001165036 OGDH,OGDH,OGDH EXON Missense_R38Q,Missense_R38Q,Missense_R38Q exm618251 7 44664106 [T/C] NM_001003941,NM_002541,NM_001165036 OGDH,OGDH,OGDH EXON Missense_S55L,Missense_S55L,Missense_S55L exm2266520 7 44686497 [A/G] NM_001003941,NM_002541,NM_001165036 OGDH,OGDH,OGDH Silent,Silent,Silent exm618270 7 44687346 [A/G] NM_001003941,NM_002541,NM_001165036 OGDH,OGDH,OGDH EXON Missense_T169A,Missense_T169A,Silent exm2258352 7 44706363 [T/C] NM_001003941,NM_002541,NM_001165036 OGDH,OGDH,OGDH EXON Synonymous_L182L,Synonymous_L182L,Synonymous_L178L exm618292 7 44715767 [A/C] NM_001003941,NM_002541,NM_001165036 OGDH,OGDH,OGDH EXON Missense_R409S,Silent,Silent exm618300 7 44733571 [A/C] NM_002541,NM_001165036 OGDH,OGDH EXON Missense_S495R,Missense_S491R exm618318 7 44736591 [T/C] NM_002541,NM_001165036 OGDH,OGDH EXON Missense_A660V,Missense_A656V exm618326 7 44739767 [T/A] NM_002541,NM_001165036 OGDH,OGDH EXON Missense_N820Y,Missense_N816Y exm618340 7 44746970 [A/G] NM_002541,NM_001165036 OGDH,OGDH EXON Missense_I927V,Missense_I923V exm618355 7 44747578 [A/G] NM_002541,NM_001165036 OGDH,OGDH EXON Missense_V1018I,Missense_V1014I exm618363 7 44796067 [A/G] NM_031449,NM_174929 ZMIZ2,ZMIZ2 EXON Missense_A32T,Missense_A32T exm618371 7 44796675 [A/G] NM_031449,NM_174929 ZMIZ2,ZMIZ2 EXON Missense_A99T,Missense_A99T exm2150267 7 44796714 [A/G] NM_031449,NM_174929 ZMIZ2,ZMIZ2 EXON Missense_G112R,Missense_G112R exm618374 7 44796727 [A/G] NM_031449,NM_174929 ZMIZ2,ZMIZ2 EXON Missense_G116E,Missense_G116E exm618376 7 44796735 [A/G] NM_031449,NM_174929 ZMIZ2,ZMIZ2 EXON Missense_G119S,Missense_G119S exm618378 7 44796747 [A/G] NM_031449,NM_174929 ZMIZ2,ZMIZ2 EXON Missense_G123R,Missense_G123R exm618379 7 44796990 [C/G] NM_031449,NM_174929 ZMIZ2,ZMIZ2 EXON Missense_P128A,Missense_P128A exm2150272 7 44797456 [A/G] NM_031449,NM_174929 ZMIZ2,ZMIZ2 EXON Missense_G188R,Missense_G188R exm618413 7 44799796 [C/G] NM_031449,NM_174929 ZMIZ2,ZMIZ2 EXON Missense_S347T,Silent exm618425 7 44800176 [T/G] NM_031449,NM_174929 ZMIZ2,ZMIZ2 EXON Missense_L408F,Missense_L382F exm618444 7 44802870 [A/G] NM_031449,NM_174929 ZMIZ2,ZMIZ2 EXON Missense_S573N,Missense_S547N exm618454 7 44804989 [A/G] NM_031449,NM_174929 ZMIZ2,ZMIZ2 EXON Missense_V685M,Missense_V659M exm618469 7 44805814 [T/C] NM_031449,NM_174929 ZMIZ2,ZMIZ2 EXON Missense_T765M,Missense_T739M exm618477 7 44805921 [T/C] NM_031449,NM_174929 ZMIZ2,ZMIZ2 EXON Missense_L801F,Missense_L775F exm618478 7 44806078 [T/C] NM_031449,NM_174929 ZMIZ2,ZMIZ2 EXON Missense_T824I,Missense_T798I exm618479 7 44806089 [A/G] NM_031449,NM_174929 ZMIZ2,ZMIZ2 EXON Missense_G828R,Missense_G802R exm618485 7 44806159 [T/C] NM_031449,NM_174929 ZMIZ2,ZMIZ2 EXON Missense_A851V,Missense_A825V exm2270609 7 44808091 [T/G] NM_031449,NM_174929 ZMIZ2,ZMIZ2 EXON Silent,Silent exm618517 7 44874113 [T/C] NM_138635,NM_201516,NM_012412,NM_201517,NM_201436 H2AFV,H2AFV,H2AFV,H2AFV,H2AFV EXON Silent,Silent,Missense_Q125R,Missense_Q87R,Missense_Q99R exm618566 7 45002388 [A/C] NM_033054 MYO1G EXON Missense_D1003Y exm618578 7 45003685 [T/C] NM_033054 MYO1G EXON Missense_R903Q exm618580 7 45003754 [T/C] NM_033054 MYO1G EXON Missense_R880H exm618585 7 45004063 [T/C] NM_033054 MYO1G EXON Missense_Q861R exm618609 7 45005387 [A/G] NM_033054 MYO1G EXON Missense_R744W exm618610 7 45005393 [A/G] NM_033054 MYO1G EXON Missense_W742R exm618623 7 45005797 [T/G] NM_033054 MYO1G EXON Missense_H678N exm618633 7 45006364 [T/C] NM_033054 MYO1G EXON Missense_R619H exm618641 7 45007287 [T/C] NM_033054 MYO1G EXON Missense_T567A exm618647 7 45007335 [T/C] NM_033054 MYO1G EXON Missense_T551A exm618658 7 45009048 [T/C] NM_033054 MYO1G EXON Missense_R513Q exm618663 7 45009341 [A/G] NM_033054 MYO1G EXON Missense_M489T exm618667 7 45009408 [T/C] NM_033054 MYO1G EXON Missense_V467M exm618668 7 45009432 [A/G] NM_033054 MYO1G EXON Missense_R459W exm618671 7 45009650 [T/C] NM_033054 MYO1G EXON Missense_T441A exm618684 7 45010200 [A/G] NM_033054 MYO1G EXON Missense_P403L exm618689 7 45010270 [A/G] NM_033054 MYO1G EXON Missense_R380W exm2150370 7 45010549 [T/C] NM_033054 MYO1G EXON Missense_R319Q exm618698 7 45010592 [C/G] NM_033054 MYO1G EXON Missense_E305Q exm618699 7 45010595 [T/C] NM_033054 MYO1G EXON Missense_E304K exm618701 7 45010636 [A/G] NM_033054 MYO1G EXON Missense_T290M exm618705 7 45011294 [A/G] NM_033054 MYO1G EXON Missense_I275T exm2274235 7 45011343 [A/T] NM_033054 MYO1G EXON Missense_M259L exm618730 7 45016491 [T/C] NM_033054 MYO1G EXON Missense_R92Q exm618733 7 45016560 [T/C] NM_033054 MYO1G EXON Missense_R69H exm618735 7 45016587 [T/G] NM_033054 MYO1G EXON Missense_P60H exm618737 7 45016621 [T/C] NM_033054 MYO1G EXON Missense_V49M exm618744 7 45018542 [A/G] NM_033054 MYO1G EXON Missense_P7S exm618756 7 45067314 [C/G] NR_030770,NM_001167935,NM_001167934,NM_031443,NM_001029835 CCM2,CCM2,CCM2,CCM2,CCM2 EXON Silent,Silent,Silent,Silent,Missense_S4T exm618763 7 45077978 [A/G] NR_030770,NM_001167935,NM_001167934,NM_031443,NM_001029835 CCM2,CCM2,CCM2,CCM2,CCM2 EXON Silent,Missense_V53I,Silent,Missense_V53I,Missense_V74I exm618771 7 45104101 [A/G] NR_030770,NM_001167935,NM_001167934,NM_031443,NM_001029835 CCM2,CCM2,CCM2,CCM2,CCM2 EXON Silent,Missense_D110N,Missense_D52N,Missense_D110N,Missense_D131N exm618775 7 45104131 [A/G] NR_030770,NM_001167935,NM_001167934,NM_031443,NM_001029835 CCM2,CCM2,CCM2,CCM2,CCM2 EXON Silent,Missense_V120I,Missense_V62I,Missense_V120I,Missense_V141I exm618786 7 45108081 [T/C] NR_030770,NM_001167935,NM_001167934,NM_031443,NM_001029835 CCM2,CCM2,CCM2,CCM2,CCM2 EXON Silent,Silent,Missense_A113V,Missense_A171V,Missense_A192V exm618791 7 45108137 [A/G] NR_030770,NM_001167935,NM_001167934,NM_031443,NM_001029835 CCM2,CCM2,CCM2,CCM2,CCM2 EXON Silent,Silent,Missense_V132M,Missense_V190M,Missense_V211M exm2258354 7 45109550 [T/C] NR_030770,NM_001167935,NM_001167934,NM_031443,NM_001029835 CCM2,CCM2,CCM2,CCM2,CCM2 EXON Silent,Silent,Synonymous_S187S,Synonymous_S245S,Synonymous_S266S exm618817 7 45113121 [A/G] NR_030770,NM_001167935,NM_001167934,NM_031443,NM_001029835 CCM2,CCM2,CCM2,CCM2,CCM2 EXON Silent,Missense_S198N,Missense_S231N,Missense_S289N,Missense_S310N exm618820 7 45113170 [A/G] NR_030770,NM_001167935,NM_001167934,NM_031443,NM_001029835 CCM2,CCM2,CCM2,CCM2,CCM2 EXON Silent,Synonymous_T214T,Synonymous_T247T,Synonymous_T305T,Synonymous_T326T exm618834 7 45113933 [A/G] NR_030770,NM_001167935,NM_001167934,NM_031443,NM_001029835 CCM2,CCM2,CCM2,CCM2,CCM2 EXON Silent,Missense_N236S,Missense_N269S,Missense_N327S,Missense_N348S exm618841 7 45115382 [A/G] NR_030770,NM_001167935,NM_001167934,NM_031443,NM_001029835 CCM2,CCM2,CCM2,CCM2,CCM2 EXON Silent,Missense_R263K,Missense_R296K,Missense_R354K,Missense_R375K exm618843 7 45115412 [A/G] NR_030770,NM_001167935,NM_001167934,NM_031443,NM_001029835 CCM2,CCM2,CCM2,CCM2,CCM2 EXON Silent,Missense_H273R,Missense_H306R,Missense_H364R,Missense_H385R exm618854 7 45115538 [T/C] NR_030770,NM_001167935,NM_001167934,NM_031443,NM_001029835 CCM2,CCM2,CCM2,CCM2,CCM2 EXON Silent,Missense_T315M,Missense_T348M,Missense_T406M,Missense_T427M exm618881 7 45121241 [T/C] NM_001146334 NACAD EXON Missense_A1406T exm2245666 7 45121362 [G/C] NM_001146334 NACAD EXON Missense_P1393A exm618898 7 45122324 [A/C] NM_001146334 NACAD EXON Missense_C1152F exm618910 7 45122723 [A/G] NM_001146334 NACAD EXON Missense_A1019V exm618913 7 45122762 [A/G] NM_001146334 NACAD EXON Missense_A1006V exm2245667 7 45122898 [T/C] NM_001146334 NACAD EXON Missense_V961M exm618916 7 45123018 [T/C] NM_001146334 NACAD EXON Missense_A921T exm618940 7 45124286 [A/G] NM_001146334 NACAD EXON Missense_V498A exm618941 7 45124446 [T/C] NM_001146334 NACAD EXON Missense_V445M exm618943 7 45124465 [T/A] NM_001146334 NACAD EXON Missense_D438E exm618957 7 45125165 [T/C] NM_001146334 NACAD EXON Missense_R205Q exm618965 7 45125486 [T/A] NM_001146334 NACAD EXON Missense_E98V exm618970 7 45125700 [T/C] NM_001146334 NACAD EXON Missense_D27N exm618977 7 45139949 [A/G] NM_004749,NM_030900,NM_199122,NM_001261834 TBRG4,TBRG4,TBRG4,TBRG4 EXON Missense_A624V,Missense_A514V,Missense_A514V,Missense_A635V exm618979 7 45139959 [T/C] NM_004749,NM_030900,NM_199122,NM_001261834 TBRG4,TBRG4,TBRG4,TBRG4 EXON Missense_M621V,Missense_M511V,Missense_M511V,Missense_M632V exm618984 7 45140909 [T/C] NM_004749,NM_030900,NM_199122,NM_001261834 TBRG4,TBRG4,TBRG4,TBRG4 EXON Missense_R581H,Missense_R471H,Missense_R471H,Missense_R592H exm618996 7 45141667 [T/C] NM_004749,NM_030900,NM_199122,NM_001261834 TBRG4,TBRG4,TBRG4,TBRG4 EXON Missense_G442S,Missense_G332S,Missense_G332S,Missense_G453S exm618997 7 45141668 [T/C] NM_004749,NM_030900,NM_199122,NM_001261834 TBRG4,TBRG4,TBRG4,TBRG4 EXON Synonymous_G441G,Synonymous_G331G,Synonymous_G331G,Synonymous_G452G exm619015 7 45143011 [A/G] NM_004749,NM_030900,NM_199122,NM_001261834 TBRG4,TBRG4,TBRG4,TBRG4 EXON Missense_L366P,Missense_L256P,Missense_L256P,Missense_L377P exm619061 7 45145332 [T/C] NM_004749,NM_030900,NM_199122,NM_001261834 TBRG4,TBRG4,TBRG4,TBRG4 EXON Missense_K148R,Missense_K148R,Missense_K148R,Missense_K159R exm619071 7 45148545 [T/G] NM_004749,NM_030900,NM_199122,NM_001261834 TBRG4,TBRG4,TBRG4,TBRG4 EXON Missense_N98H,Missense_N98H,Missense_N98H,Missense_N109H exm619073 7 45148657 [G/C] NM_004749,NM_030900,NM_199122,NM_001261834 TBRG4,TBRG4,TBRG4,TBRG4 EXON Missense_K60N,Missense_K60N,Missense_K60N,Missense_K71N exm619076 7 45148667 [A/G] NM_004749,NM_030900,NM_199122,NM_001261834 TBRG4,TBRG4,TBRG4,TBRG4 EXON Missense_P57L,Missense_P57L,Missense_P57L,Missense_P68L exm619080 7 45148742 [G/C] NM_004749,NM_030900,NM_199122,NM_001261834 TBRG4,TBRG4,TBRG4,TBRG4 EXON Missense_A32G,Missense_A32G,Missense_A32G,Missense_A43G exm619084 7 45148814 [T/C] NM_004749,NM_030900,NM_199122,NM_001261834 TBRG4,TBRG4,TBRG4,TBRG4 EXON Missense_R8Q,Missense_R8Q,Missense_R8Q,Missense_R19Q exm619091 7 45216926 [A/G] NM_005856 RAMP3 EXON Missense_G26D exm619094 7 45216946 [A/C] NM_005856 RAMP3 EXON Missense_M33L exm619102 7 45217015 [T/C] NM_005856 RAMP3 EXON Missense_W56R exm619105 7 45222793 [A/G] NM_005856 RAMP3 EXON Missense_A77T exm619106 7 45222817 [T/C] NM_005856 RAMP3 EXON Missense_P85S exm619112 7 45222926 [T/C] NM_005856 RAMP3 EXON Missense_P121L exm619115 7 45222968 [T/G] NM_005856 RAMP3 EXON Missense_G135V exm2266403 7 45522229 [A/G] exm2266521 7 45703971 [A/G] NM_021116 ADCY1 Silent exm619184 7 45717468 [T/C] NM_021116 ADCY1 EXON Missense_R536W exm619190 7 45717648 [A/G] NM_021116 ADCY1 EXON Missense_E596K exm2150512 7 45717651 [T/C] NM_021116 ADCY1 EXON Missense_R597W exm619199 7 45724631 [A/G] NM_021116 ADCY1 EXON Missense_I679M exm619202 7 45725648 [A/G] NM_021116 ADCY1 EXON Missense_T721A exm619209 7 45726156 [A/G] NM_021116 ADCY1 EXON Missense_V780I exm2258357 7 45743321 [T/C] NM_021116 ADCY1 EXON Synonymous_N898N exm619223 7 45743321 [T/C] NM_021116 ADCY1 EXON Synonymous_N898N exm619237 7 45747949 [A/G] NM_021116 ADCY1 EXON Missense_A940T exm619249 7 45753418 [A/G] NM_021116 ADCY1 EXON Missense_G1062S exm619261 7 45928276 [T/G] NM_000596 IGFBP1 EXON Missense_V9F exm619271 7 45928568 [A/C] NM_000596 IGFBP1 EXON Missense_Q106P exm619279 7 45930256 [A/C] NM_000596 IGFBP1 EXON Missense_D153E exm619282 7 45931558 [A/G] NM_000596 IGFBP1 EXON Missense_V183I exm619283 7 45931561 [A/G] NM_000596 IGFBP1 EXON Missense_V184I exm619290 7 45932563 [T/A] NM_000596 IGFBP1 EXON Missense_E218V exm619294 7 45932640 [A/G] NM_000596 IGFBP1 EXON Missense_E244K exm619306 7 45954465 [A/G] NM_001013398,NM_000598 IGFBP3,IGFBP3 EXON Missense_T283I,Missense_T277I exm619312 7 45956197 [T/C] NM_001013398,NM_000598 IGFBP3,IGFBP3 EXON Missense_G240S,Missense_G234S exm619316 7 45956850 [C/G] NM_001013398,NM_000598 IGFBP3,IGFBP3 EXON Missense_Q204E,Missense_Q198E exm619320 7 45956969 [T/G] NM_001013398,NM_000598 IGFBP3,IGFBP3 EXON Missense_H164P,Missense_H158P exm-rs11977526 7 46008110 [A/G] exm-rs6944635 7 46171884 [A/G] exm-rs1007358 7 46201355 [A/G] exm2258359 7 46206780 [A/G] exm-rs6964415 7 46242583 [T/G] exm-rs1486139 7 46275728 [A/G] exm-rs17172694 7 46437154 [T/G] exm2264260 7 46463342 [A/C] exm-rs7784776 7 46620145 [A/G] exm2266405 7 46919134 [A/G] exm619349 7 47319774 [T/C] NM_022748 TNS3 EXON Missense_G1394D exm619358 7 47323416 [T/C] NM_022748 TNS3 EXON Missense_G1326S exm619363 7 47331594 [A/G] NM_022748 TNS3 EXON Missense_T1296M exm619369 7 47333332 [A/G] NM_022748 TNS3 EXON Synonymous_F1257F exm619375 7 47333411 [T/C] NM_022748 TNS3 EXON Missense_N1231S exm619381 7 47336773 [T/C] NM_022748 TNS3 EXON Missense_I1195V exm619383 7 47336807 [A/G] NM_022748 TNS3 EXON Synonymous_I1183I exm2258362 7 47336807 [A/G] NM_022748 TNS3 EXON Synonymous_I1183I exm619389 7 47342556 [A/G] NM_022748 TNS3 EXON Missense_P1150L exm619391 7 47342590 [A/G] NM_022748 TNS3 EXON Missense_P1139S exm619397 7 47342658 [A/G] NM_022748 TNS3 EXON Missense_P1116L exm619401 7 47342713 [C/G] NM_022748 TNS3 EXON Missense_L1098V exm619406 7 47342790 [A/G] NM_022748 TNS3 EXON Missense_T1072M exm619411 7 47342857 [T/C] NM_022748 TNS3 EXON Missense_T1050A exm619419 7 47343057 [A/G] NM_022748 TNS3 EXON Missense_P983L exm619421 7 47343079 [A/G] NM_022748 TNS3 EXON Missense_S976P exm619426 7 47343165 [T/C] NM_022748 TNS3 EXON Missense_R947H exm619436 7 47384355 [T/C] NM_022748 TNS3 EXON Missense_R883H exm619440 7 47384395 [T/G] NM_022748 TNS3 EXON Missense_P870T exm619441 7 47384400 [A/G] NM_022748 TNS3 EXON Missense_P868L exm619449 7 47385793 [T/C] NM_022748 TNS3 EXON Missense_V815I exm619451 7 47385798 [A/G] NM_022748 TNS3 EXON Missense_A813V exm619469 7 47408079 [T/C] NM_022748 TNS3 EXON Missense_A722T exm619475 7 47408208 [T/C] NM_022748 TNS3 EXON Missense_G679S exm619479 7 47408252 [A/G] NM_022748 TNS3 EXON Missense_A664V exm2258364 7 47408299 [A/G] NM_022748 TNS3 EXON Synonymous_G648G exm619488 7 47408426 [T/C] NM_022748 TNS3 EXON Missense_D606G exm619489 7 47408443 [C/G] NM_022748 TNS3 EXON Missense_Q600H exm619491 7 47408550 [A/G] NM_022748 TNS3 EXON Missense_P565S exm619498 7 47408702 [T/C] NM_022748 TNS3 EXON Missense_K514R exm619500 7 47408712 [T/G] NM_022748 TNS3 EXON Missense_T511P exm619502 7 47408718 [A/G] NM_022748 TNS3 EXON Missense_P509S exm619503 7 47408732 [A/G] NM_022748 TNS3 EXON Missense_S504L exm619511 7 47408880 [A/G] NM_022748 TNS3 EXON Missense_R455C exm2150626 7 47408900 [T/C] NM_022748 TNS3 EXON Missense_R448Q exm619521 7 47409038 [A/G] NM_022748 TNS3 EXON Missense_T402M exm619524 7 47409104 [A/G] NM_022748 TNS3 EXON Missense_P380L exm619525 7 47409107 [T/C] NM_022748 TNS3 EXON Missense_S379N exm619526 7 47409119 [A/G] NM_022748 TNS3 EXON Missense_P375L exm619536 7 47409209 [A/G] NM_022748 TNS3 EXON Missense_T345M exm619542 7 47436435 [G/C] NM_022748 TNS3 EXON Missense_R329P exm619544 7 47436475 [T/C] NM_022748 TNS3 EXON Missense_G316S exm619552 7 47440394 [T/G] NM_022748 TNS3 EXON Missense_N281H exm619554 7 47440469 [T/C] NM_022748 TNS3 EXON Missense_V256I exm619559 7 47451366 [T/C] NM_022748 TNS3 EXON Missense_I228V exm619561 7 47451398 [T/C] NM_022748 TNS3 EXON Missense_N217S exm619571 7 47454754 [A/G] NM_022748 TNS3 EXON Missense_A175V exm619581 7 47474935 [A/G] NM_022748 TNS3 EXON Missense_A90V exm619597 7 47481602 [A/G] NM_022748 TNS3 EXON Silent exm2266406 7 47607478 [A/G] NM_022748 TNS3 Silent exm2264261 7 47641920 [A/C] exm619605 7 47694902 [T/C] NM_001123065 C7orf65 EXON Missense_T9I exm619612 7 47698507 [A/C] NM_001123065 C7orf65 EXON Missense_A46D exm619615 7 47698560 [T/G] NM_001123065 C7orf65 EXON Missense_V64L exm619624 7 47698737 [A/C] NM_001123065 C7orf65 EXON Missense_T123P exm619626 7 47698806 [T/G] NM_001123065 C7orf65 EXON Nonsense_E146X exm619637 7 47832225 [G/C] NM_138295 PKD1L1 EXON Missense_E2842D exm619644 7 47832374 [T/C] NM_138295 PKD1L1 EXON Missense_A2793T exm619645 7 47832377 [A/G] NM_138295 PKD1L1 EXON Missense_F2792L exm619652 7 47840302 [A/G] NM_138295,NM_025031 PKD1L1,C7orf69 EXON Missense_M2713T,Silent exm619654 7 47840308 [T/C] NM_138295,NM_025031 PKD1L1,C7orf69 EXON Missense_R2711Q,Silent exm2150677 7 47840309 [A/G] NM_138295,NM_025031 PKD1L1,C7orf69 EXON Missense_R2711W,Silent exm619655 7 47840310 [G/C] NM_138295,NM_025031 PKD1L1,C7orf69 EXON Missense_Q2710H,Silent exm619656 7 47840336 [A/G] NM_138295,NM_025031 PKD1L1,C7orf69 EXON Missense_L2702F,Silent exm619659 7 47840381 [A/G] NM_138295,NM_025031 PKD1L1,C7orf69 EXON Missense_P2687S,Silent exm619671 7 47842894 [A/G] NM_138295,NM_025031 PKD1L1,C7orf69 EXON Missense_C2626R,Silent exm619678 7 47847865 [A/G] NM_138295,NM_025031 PKD1L1,C7orf69 EXON Missense_L2603F,Silent exm619679 7 47847877 [T/C] NM_138295,NM_025031 PKD1L1,C7orf69 EXON Missense_M2599V,Silent exm619682 7 47847885 [A/C] NM_138295,NM_025031 PKD1L1,C7orf69 EXON Missense_R2596L,Silent exm619686 7 47847954 [T/C] NM_138295,NM_025031 PKD1L1,C7orf69 EXON Missense_Y2573C,Silent exm619687 7 47847966 [G/C] NM_138295,NM_025031 PKD1L1,C7orf69 EXON Missense_S2569T,Silent exm619688 7 47847987 [T/C] NM_138295,NM_025031 PKD1L1,C7orf69 Silent,Silent exm619691 7 47849094 [A/G] NM_138295,NM_025031 PKD1L1,C7orf69 EXON Nonsense_R2555X,Silent exm2150685 7 47849120 [A/G] NM_138295,NM_025031 PKD1L1,C7orf69 EXON Missense_M2546T,Silent exm619698 7 47851455 [T/C] NM_138295,NM_025031 PKD1L1,C7orf69 EXON Missense_R2514H,Silent exm2258366 7 47851469 [T/C] NM_138295,NM_025031 PKD1L1,C7orf69 EXON Synonymous_S2509S,Silent exm619700 7 47851531 [T/C] NM_138295,NM_025031 PKD1L1,C7orf69 EXON Missense_V2489M,Silent exm619702 7 47851578 [A/G] NM_138295,NM_025031 PKD1L1,C7orf69 EXON Missense_S2473F,Silent exm619703 7 47851623 [T/C] NM_138295,NM_025031 PKD1L1,C7orf69 EXON Missense_R2458Q,Silent exm619708 7 47852786 [T/C] NM_138295,NM_025031 PKD1L1,C7orf69 EXON Missense_V2427M,Silent exm619709 7 47852837 [T/C] NM_138295,NM_025031 PKD1L1,C7orf69 EXON Missense_E2410K,Silent exm619711 7 47852852 [A/G] NM_138295,NM_025031 PKD1L1,C7orf69 EXON Missense_P2405S,Silent exm619713 7 47852885 [T/C] NM_138295,NM_025031 PKD1L1,C7orf69 EXON Missense_R2394G,Silent exm619723 7 47854949 [A/G] NM_138295,NM_025031 PKD1L1,C7orf69 EXON Missense_R2358C,Silent exm619731 7 47855007 [T/C] NM_138295,NM_025031 PKD1L1,C7orf69 EXON Nonsense_W2338X,Silent exm619740 7 47860690 [A/G] NM_138295 PKD1L1 EXON Missense_R2317W exm619745 7 47866960 [T/C] NM_138295 PKD1L1 EXON Missense_R2281Q exm619746 7 47866972 [T/C] NM_138295 PKD1L1 EXON Missense_E2277G exm619750 7 47867054 [A/G] NM_138295 PKD1L1 EXON Nonsense_R2250X exm619760 7 47869181 [C/G] NM_138295 PKD1L1 EXON Missense_G2193R exm619764 7 47869722 [T/C] NM_138295 PKD1L1 EXON Synonymous_R2158R exm2150711 7 47870905 [T/G] NM_138295 PKD1L1 EXON Missense_A2128D exm619773 7 47872781 [A/C] NM_138295 PKD1L1 EXON Missense_A2082S exm619780 7 47873941 [T/C] NM_138295 PKD1L1 EXON Missense_R2057H exm619782 7 47873954 [T/C] NM_138295 PKD1L1 EXON Missense_A2053T exm619786 7 47874630 [A/G] NM_138295 PKD1L1 EXON Missense_P2021L exm619787 7 47874634 [T/C] NM_138295 PKD1L1 EXON Missense_A2020T exm619790 7 47874805 [T/C] NM_138295 PKD1L1 EXON Missense_R1994G exm619794 7 47874840 [A/G] NM_138295 PKD1L1 EXON Missense_P1982L exm2150728 7 47876598 [A/G] NM_138295 PKD1L1 EXON Missense_P1955L exm619806 7 47876614 [A/G] NM_138295 PKD1L1 EXON Missense_R1950C exm619808 7 47876620 [A/G] NM_138295 PKD1L1 EXON Missense_S1948P exm2258367 7 47876669 [T/C] NM_138295 PKD1L1 EXON Synonymous_E1931E exm619815 7 47876669 [T/C] NM_138295 PKD1L1 EXON Synonymous_E1931E exm2277344 7 47879048 [A/C] NM_138295 PKD1L1 EXON Missense_R1922L exm619818 7 47879049 [A/G] NM_138295 PKD1L1 EXON Missense_R1922W exm619831 7 47880144 [T/C] NM_138295 PKD1L1 EXON Missense_D1823N exm619838 7 47882627 [A/G] NM_138295 PKD1L1 EXON Missense_P1793L exm619847 7 47884650 [T/A] NM_138295 PKD1L1 EXON Missense_L1727H exm619848 7 47884662 [A/G] NM_138295 PKD1L1 EXON Missense_A1723V exm619849 7 47884663 [T/C] NM_138295 PKD1L1 EXON Missense_A1723T exm619851 7 47884668 [T/C] NM_138295 PKD1L1 EXON Missense_R1721H exm619855 7 47886505 [G/C] NM_138295 PKD1L1 EXON Missense_G1709R exm619856 7 47886522 [T/C] NM_138295 PKD1L1 EXON Missense_R1703H exm619858 7 47886540 [T/C] NM_138295 PKD1L1 EXON Missense_R1697K exm619864 7 47892736 [A/G] NM_138295 PKD1L1 EXON Missense_A1650V exm619865 7 47892745 [A/G] NM_138295 PKD1L1 EXON Missense_I1647T exm619870 7 47894518 [T/A] NM_138295 PKD1L1 EXON Missense_K1607N exm619885 7 47897285 [A/G] NM_138295 PKD1L1 EXON Missense_A1503V exm619890 7 47897379 [C/G] NM_138295 PKD1L1 EXON Missense_L1472V exm619896 7 47898296 [A/T] NM_138295 PKD1L1 EXON Missense_I1446N exm619897 7 47898311 [T/C] NM_138295 PKD1L1 EXON Missense_R1441Q exm619912 7 47906069 [T/C] NM_138295 PKD1L1 EXON Missense_R1347Q exm619914 7 47906115 [A/G] NM_138295 PKD1L1 EXON Missense_R1332C exm619921 7 47913504 [T/C] NM_138295 PKD1L1 EXON Missense_E1297K exm2150764 7 47913546 [A/C] NM_138295 PKD1L1 EXON Missense_V1283L exm619922 7 47913548 [A/T] NM_138295 PKD1L1 EXON Missense_V1282E exm619924 7 47913560 [T/G] NM_138295 PKD1L1 EXON Missense_P1278Q exm619925 7 47913579 [T/C] NM_138295 PKD1L1 EXON Missense_K1272E exm2150765 7 47915787 [A/C] NM_138295 PKD1L1 EXON Missense_I1231R exm619934 7 47917087 [T/C] NM_138295 PKD1L1 EXON Synonymous_P1221P exm619947 7 47920371 [A/G] NM_138295 PKD1L1 EXON Missense_Y1159H exm619964 7 47921682 [A/T] NM_138295 PKD1L1 EXON Synonymous_A1089A exm619969 7 47925331 [C/G] NM_138295 PKD1L1 EXON Missense_R1053P exm619978 7 47925424 [A/G] NM_138295 PKD1L1 EXON Missense_A1022V exm619981 7 47925485 [T/G] NM_138295 PKD1L1 EXON Missense_T1002P exm619985 7 47925520 [T/C] NM_138295 PKD1L1 EXON Missense_R990Q exm619987 7 47925525 [T/G] NM_138295 PKD1L1 EXON Missense_F988L exm619989 7 47925535 [A/G] NM_138295 PKD1L1 EXON Missense_T985I exm619991 7 47925562 [C/G] NM_138295 PKD1L1 EXON Missense_P976R exm619996 7 47925581 [T/G] NM_138295 PKD1L1 EXON Missense_N970H exm620000 7 47925619 [A/G] NM_138295 PKD1L1 EXON Missense_S957L exm620003 7 47927650 [A/G] NM_138295 PKD1L1 EXON Missense_P925L exm620008 7 47927744 [T/C] NM_138295 PKD1L1 EXON Missense_V894I exm620017 7 47930180 [T/C] NM_138295 PKD1L1 EXON Missense_T879A exm620019 7 47930194 [T/C] NM_138295 PKD1L1 EXON Missense_R874Q exm620020 7 47930195 [A/G] NM_138295 PKD1L1 EXON Missense_R874W exm620036 7 47933494 [T/C] NM_138295 PKD1L1 EXON Missense_D812N exm620039 7 47933529 [A/G] NM_138295 PKD1L1 EXON Missense_I800T exm620045 7 47933652 [A/T] NM_138295 PKD1L1 EXON Missense_Q759L exm620052 7 47937677 [T/C] NM_138295 PKD1L1 EXON Missense_V727I exm620059 7 47942032 [T/C] NM_138295 PKD1L1 EXON Missense_V670M exm620060 7 47942035 [T/C] NM_138295 PKD1L1 EXON Missense_I669V exm620063 7 47942082 [A/C] NM_138295 PKD1L1 EXON Missense_L653R exm620071 7 47944057 [T/C] NM_138295 PKD1L1 EXON Missense_G617S exm620099 7 47947752 [T/C] NM_138295 PKD1L1 EXON Missense_V442M exm620102 7 47947799 [T/G] NM_138295 PKD1L1 EXON Missense_T426N exm620104 7 47947836 [T/C] NM_138295 PKD1L1 EXON Missense_M414V exm2150808 7 47947839 [A/G] NM_138295 PKD1L1 EXON Missense_Y413H exm620106 7 47955049 [A/G] NM_138295 PKD1L1 EXON Missense_L403P exm620108 7 47955065 [T/G] NM_138295 PKD1L1 EXON Missense_N398H exm620115 7 47968830 [A/G] NM_138295 PKD1L1 EXON Missense_A344V exm620116 7 47968850 [C/G] NM_138295 PKD1L1 EXON Missense_H337Q exm620121 7 47968923 [T/C] NM_138295 PKD1L1 EXON Missense_H313R exm620122 7 47968927 [A/C] NM_138295 PKD1L1 EXON Missense_V312F exm620124 7 47968948 [A/G] NM_138295 PKD1L1 EXON Missense_P305S exm620125 7 47968953 [T/C] NM_138295 PKD1L1 EXON Missense_R303Q exm620130 7 47969095 [A/G] NM_138295 PKD1L1 EXON Missense_R256C exm620133 7 47970707 [A/G] NM_138295 PKD1L1 EXON Missense_P244L exm620134 7 47970731 [A/G] NM_138295 PKD1L1 EXON Missense_P236L exm620138 7 47970807 [T/C] NM_138295 PKD1L1 EXON Missense_G211R exm620148 7 47971562 [T/C] NM_138295 PKD1L1 EXON Missense_A164T exm620156 7 47976494 [A/C] NM_138295 PKD1L1 EXON Missense_V116G exm620163 7 47979804 [G/C] NM_138295 PKD1L1 EXON Missense_A91P exm620165 7 47979815 [T/G] NM_138295 PKD1L1 EXON Missense_P87Q exm2258368 7 47979922 [A/G] NM_138295 PKD1L1 Silent exm2150837 7 47983031 [T/A] NM_138295 PKD1L1 EXON Missense_L41Q exm620179 7 47988031 [T/C] NM_138295 PKD1L1 EXON Missense_E3K exm620184 7 48004991 [T/C] NR_037917,NM_004507 HUS1,HUS1 EXON Silent,Missense_D269N exm620186 7 48007476 [T/G] NR_037917,NM_004507 HUS1,HUS1 EXON Silent,Missense_E229D exm620188 7 48007500 [C/G] NR_037917,NM_004507 HUS1,HUS1 EXON Silent,Missense_D221E exm620197 7 48016353 [T/G] NR_037917,NM_004507 HUS1,HUS1 EXON Silent,Missense_Q147K exm620208 7 48018115 [T/C] NR_037917,NM_004507 HUS1,HUS1 EXON Silent,Missense_E86K exm620210 7 48018117 [A/G] NR_037917,NM_004507 HUS1,HUS1 EXON Silent,Missense_S85L exm620214 7 48018335 [T/C] NR_037917,NM_004507 HUS1,HUS1 EXON Silent,Missense_C44Y exm620215 7 48018339 [A/G] NR_037917,NM_004507 HUS1,HUS1 EXON Silent,Missense_L43F exm620234 7 48026965 [A/G] NM_001030019,NM_152782 SUN3,SUN3 EXON Nonsense_R346X,Nonsense_R346X exm620256 7 48045567 [A/G] NM_001030019,NM_152782 SUN3,SUN3 EXON Synonymous_A192A,Synonymous_A192A exm2150880 7 48045605 [T/C] NM_001030019,NM_152782 SUN3,SUN3 EXON Missense_D180N,Missense_D180N exm620259 7 48045622 [A/T] NM_001030019,NM_152782 SUN3,SUN3 EXON Missense_L174H,Missense_L174H exm620264 7 48046775 [A/G] NM_001030019,NM_152782 SUN3,SUN3 EXON Missense_P160L,Missense_P160L exm620266 7 48046796 [T/C] NM_001030019,NM_152782 SUN3,SUN3 EXON Missense_H153R,Missense_H153R exm2245698 7 48046917 [T/C] NM_001030019,NM_152782 SUN3,SUN3 EXON Missense_S113G,Missense_S113G exm620276 7 48048652 [T/G] NM_001030019,NM_152782 SUN3,SUN3 EXON Missense_K103N,Missense_K103N exm620280 7 48056891 [T/C] NM_001030019,NM_152782 SUN3,SUN3 EXON Missense_A86T,Missense_A86T exm620281 7 48056923 [A/G] NM_001030019,NM_152782 SUN3,SUN3 EXON Missense_P75L,Missense_P75L exm620285 7 48065476 [A/G] NM_001030019,NM_152782 SUN3,SUN3 EXON Missense_V61A,Missense_V61A exm2150888 7 48065498 [A/G] NM_001030019,NM_152782 SUN3,SUN3 EXON Missense_L54F,Missense_L54F exm620289 7 48068426 [C/G] NM_001030019,NM_152782 SUN3,SUN3 EXON Missense_P37R,Missense_P37R exm620292 7 48068489 [T/C] NM_001030019,NM_152782 SUN3,SUN3 EXON Missense_R16H,Missense_R16H exm620300 7 48080972 [A/G] NM_001267865,NM_001100159,NM_001267866 C7orf57,C7orf57,C7orf57 EXON Silent,Missense_V33M,Silent exm620303 7 48081051 [A/G] NM_001267865,NM_001100159,NM_001267866 C7orf57,C7orf57,C7orf57 EXON Silent,Missense_R59Q,Silent exm620305 7 48081095 [T/G] NM_001267865,NM_001100159,NM_001267866 C7orf57,C7orf57,C7orf57 EXON Silent,Missense_A74S,Silent exm620309 7 48083181 [T/G] NM_001267865,NM_001100159,NM_001267866 C7orf57,C7orf57,C7orf57 EXON Silent,Missense_Q115H,Silent exm620311 7 48086077 [T/C] NM_001267865,NM_001100159,NM_001267866 C7orf57,C7orf57,C7orf57 EXON Missense_P2L,Missense_P124L,Missense_P2L exm620312 7 48086082 [A/T] NM_001267865,NM_001100159,NM_001267866 C7orf57,C7orf57,C7orf57 EXON Missense_Y4N,Missense_Y126N,Missense_Y4N exm620313 7 48086106 [A/C] NM_001267865,NM_001100159,NM_001267866 C7orf57,C7orf57,C7orf57 EXON Missense_P12T,Missense_P134T,Missense_P12T exm620314 7 48086151 [A/G] NM_001267865,NM_001100159,NM_001267866 C7orf57,C7orf57,C7orf57 EXON Missense_D27N,Missense_D149N,Missense_D27N exm620316 7 48086161 [T/C] NM_001267865,NM_001100159,NM_001267866 C7orf57,C7orf57,C7orf57 EXON Missense_M30T,Missense_M152T,Missense_M30T exm620326 7 48089487 [T/C] NM_001267865,NM_001100159,NM_001267866 C7orf57,C7orf57,C7orf57 EXON Missense_P51L,Missense_P173L,Missense_P51L exm620333 7 48089571 [A/C] NM_001267865,NM_001100159,NM_001267866 C7orf57,C7orf57,C7orf57 EXON Missense_P79H,Missense_P201H,Missense_P79H exm620341 7 48092487 [A/G] NM_001267865,NM_001100159,NM_001267866 C7orf57,C7orf57,C7orf57 EXON Missense_A128T,Missense_A266T,Missense_A128T exm2245699 7 48128850 [A/G] NM_181597,NM_003364 UPP1,UPP1 EXON Silent,Silent exm620351 7 48134391 [T/C] NM_181597,NM_003364 UPP1,UPP1 EXON Missense_T4M,Missense_T4M exm620361 7 48141472 [A/G] NM_181597,NM_003364 UPP1,UPP1 EXON Missense_V72I,Missense_V72I exm620382 7 48146565 [T/C] NM_181597,NM_003364 UPP1,UPP1 EXON Missense_R178W,Missense_R178W exm620389 7 48146674 [A/T] NM_181597,NM_003364 UPP1,UPP1 EXON Missense_Y214F,Missense_Y214F exm620395 7 48146994 [T/C] NM_181597,NM_003364 UPP1,UPP1 EXON Missense_T228M,Missense_T228M exm620399 7 48147015 [A/G] NM_181597,NM_003364 UPP1,UPP1 EXON Missense_Y235C,Missense_Y235C exm620403 7 48147075 [T/C] NM_181597,NM_003364 UPP1,UPP1 EXON Missense_A255V,Missense_A255V exm620431 7 48258950 [C/G] NM_152701 ABCA13 Silent exm620434 7 48259057 [A/G] NM_152701 ABCA13 EXON Missense_A132T exm620440 7 48266869 [A/G] NM_152701 ABCA13 EXON Missense_N160S exm620442 7 48266877 [A/G] NM_152701 ABCA13 EXON Missense_E163K exm620448 7 48269463 [A/G] NM_152701 ABCA13 EXON Missense_N225S exm620460 7 48278867 [T/G] NM_152701 ABCA13 EXON Missense_M309I exm2245704 7 48278887 [C/G] NM_152701 ABCA13 EXON Missense_S316T exm620461 7 48278916 [A/G] NM_152701 ABCA13 EXON Missense_G326S exm620466 7 48280533 [G/C] NM_152701 ABCA13 EXON Missense_A378P exm620467 7 48280558 [A/C] NM_152701 ABCA13 EXON Missense_E386A exm620474 7 48284184 [A/T] NM_152701 ABCA13 EXON Missense_L425Q exm620482 7 48285485 [T/C] NM_152701 ABCA13 EXON Missense_P506L exm620485 7 48285587 [T/C] NM_152701 ABCA13 EXON Missense_T540M exm620488 7 48287840 [A/G] NM_152701 ABCA13 EXON Missense_R555H exm620496 7 48288897 [A/G] NM_152701 ABCA13 EXON Missense_E652K exm620500 7 48308588 [A/G] NM_152701 ABCA13 EXON Missense_E673K exm620507 7 48311485 [A/C] NM_152701 ABCA13 EXON Missense_E741A exm620509 7 48311563 [T/G] NM_152701 ABCA13 EXON Missense_I767S exm620512 7 48311602 [A/G] NM_152701 ABCA13 EXON Missense_S780N exm2245706 7 48311641 [T/G] NM_152701 ABCA13 EXON Missense_L793R exm620513 7 48311658 [A/G] NM_152701 ABCA13 EXON Missense_E799K exm2151048 7 48311803 [T/G] NM_152701 ABCA13 EXON Missense_R847I exm620519 7 48311884 [T/C] NM_152701 ABCA13 EXON Missense_S874F exm620521 7 48311896 [T/A] NM_152701 ABCA13 EXON Missense_H878L exm620526 7 48311941 [A/G] NM_152701 ABCA13 EXON Missense_R893H exm620528 7 48312027 [A/G] NM_152701 ABCA13 EXON Missense_A922T exm620530 7 48312084 [G/C] NM_152701 ABCA13 EXON Missense_V941L exm620533 7 48312200 [C/G] NM_152701 ABCA13 EXON Missense_Q979H exm620537 7 48312260 [A/G] NM_152701 ABCA13 EXON Missense_I999M exm620541 7 48312354 [C/G] NM_152701 ABCA13 EXON Missense_Q1031E exm620547 7 48312490 [A/G] NM_152701 ABCA13 EXON Missense_R1076H exm620552 7 48312591 [A/G] NM_152701 ABCA13 EXON Missense_V1110I exm620553 7 48312637 [A/C] NM_152701 ABCA13 EXON Missense_A1125E exm620556 7 48312721 [T/C] NM_152701 ABCA13 EXON Missense_M1153T exm620557 7 48312723 [T/G] NM_152701 ABCA13 EXON Missense_W1154G exm620560 7 48312820 [A/T] NM_152701 ABCA13 EXON Nonsense_L1186X exm620565 7 48312999 [A/G] NM_152701 ABCA13 EXON Missense_K1246E exm620566 7 48313000 [A/G] NM_152701 ABCA13 EXON Missense_K1246R exm620567 7 48313003 [A/T] NM_152701 ABCA13 EXON Missense_K1247I exm620568 7 48313084 [A/G] NM_152701 ABCA13 EXON Missense_E1274G exm620572 7 48313155 [A/G] NM_152701 ABCA13 EXON Missense_I1298V exm620576 7 48313256 [A/G] NM_152701 ABCA13 EXON Missense_I1331M exm620579 7 48313330 [A/G] NM_152701 ABCA13 EXON Missense_C1356Y exm620580 7 48313341 [A/G] NM_152701 ABCA13 EXON Missense_D1360N exm2274236 7 48313381 [A/G] NM_152701 ABCA13 EXON Missense_R1373H exm620584 7 48313509 [T/C] NM_152701 ABCA13 EXON Missense_H1416Y exm620585 7 48313510 [A/G] NM_152701 ABCA13 EXON Missense_H1416R exm620587 7 48313563 [A/G] NM_152701 ABCA13 EXON Missense_I1434V exm620590 7 48313768 [A/T] NM_152701 ABCA13 EXON Missense_M1502K exm2151060 7 48313804 [T/C] NM_152701 ABCA13 EXON Missense_A1514V exm620595 7 48313881 [T/C] NM_152701 ABCA13 EXON Missense_F1540L exm620603 7 48314109 [T/C] NM_152701 ABCA13 EXON Missense_P1616S exm620605 7 48314151 [G/C] NM_152701 ABCA13 EXON Missense_L1630V exm620610 7 48314298 [A/G] NM_152701 ABCA13 EXON Missense_V1679M exm620612 7 48314356 [C/G] NM_152701 ABCA13 EXON Missense_S1698T exm620614 7 48314389 [T/C] NM_152701 ABCA13 EXON Missense_L1709P exm620631 7 48314896 [T/C] NM_152701 ABCA13 EXON Missense_S1878F exm620635 7 48314929 [T/A] NM_152701 ABCA13 EXON Missense_I1889K exm620646 7 48315136 [A/T] NM_152701 ABCA13 EXON Missense_K1958I exm620649 7 48315202 [T/C] NM_152701 ABCA13 EXON Missense_L1980S exm620656 7 48315360 [A/G] NM_152701 ABCA13 EXON Missense_N2033D exm620660 7 48315552 [A/G] NM_152701 ABCA13 EXON Missense_I2097V exm620668 7 48315796 [A/C] NM_152701 ABCA13 EXON Missense_A2178E exm620669 7 48315810 [T/G] NM_152701 ABCA13 EXON Missense_V2183F exm2151071 7 48315825 [T/C] NM_152701 ABCA13 EXON Missense_H2188Y exm2245707 7 48315858 [T/C] NM_152701 ABCA13 EXON Missense_S2199P exm620672 7 48315898 [T/C] NM_152701 ABCA13 EXON Missense_L2212S exm620674 7 48315930 [C/G] NM_152701 ABCA13 EXON Missense_A2223P exm620679 7 48316076 [A/C] NM_152701 ABCA13 EXON Missense_F2271L exm2245708 7 48316113 [A/G] NM_152701 ABCA13 EXON Missense_I2284V exm620684 7 48317708 [A/C] NM_152701 ABCA13 EXON Missense_K2306T exm620688 7 48317836 [A/G] NM_152701 ABCA13 EXON Missense_G2349R exm620697 7 48318098 [A/G] NM_152701 ABCA13 EXON Missense_K2436R exm620699 7 48318152 [T/C] NM_152701 ABCA13 EXON Missense_T2454M exm620705 7 48318242 [A/G] NM_152701 ABCA13 EXON Missense_R2484K exm620709 7 48318389 [T/C] NM_152701 ABCA13 EXON Missense_S2533L exm620710 7 48318399 [A/G] NM_152701 ABCA13 EXON Missense_M2536I exm620711 7 48318400 [T/G] NM_152701 ABCA13 EXON Missense_S2537A exm620712 7 48318419 [A/G] NM_152701 ABCA13 EXON Missense_H2543R exm620717 7 48318509 [T/C] NM_152701 ABCA13 EXON Missense_I2573T exm620718 7 48318527 [A/T] NM_152701 ABCA13 EXON Missense_I2579K exm620719 7 48318533 [A/C] NM_152701 ABCA13 EXON Missense_H2581P exm620722 7 48318613 [A/G] NM_152701 ABCA13 EXON Missense_I2608V exm620723 7 48318614 [T/G] NM_152701 ABCA13 EXON Missense_I2608R exm620724 7 48318680 [A/G] NM_152701 ABCA13 EXON Missense_D2630G exm620731 7 48318811 [T/C] NM_152701 ABCA13 EXON Missense_R2674W exm620736 7 48318960 [A/G] NM_152701 ABCA13 EXON Missense_I2723M exm2245709 7 48318974 [T/G] NM_152701 ABCA13 EXON Missense_S2728I exm620743 7 48319307 [C/G] NM_152701 ABCA13 EXON Missense_T2839S exm620748 7 48319403 [A/C] NM_152701 ABCA13 EXON Missense_K2871T exm620752 7 48321010 [A/G] NM_152701 ABCA13 EXON Missense_V2933M exm620754 7 48321043 [A/G] NM_152701 ABCA13 EXON Missense_V2944I exm620755 7 48327570 [A/G] NM_152701 ABCA13 EXON Nonsense_W2950X exm620759 7 48327663 [T/G] NM_152701 ABCA13 EXON Missense_Q2981H exm620763 7 48335327 [C/G] NM_152701 ABCA13 EXON Missense_Q2996E exm620764 7 48335439 [T/C] NM_152701 ABCA13 EXON Missense_T3033M exm620766 7 48335451 [A/G] NM_152701 ABCA13 EXON Missense_H3037R exm620767 7 48336840 [T/G] NM_152701 ABCA13 EXON Missense_S3044I exm2151094 7 48337963 [A/G] NM_152701 ABCA13 EXON Missense_D3067G exm620770 7 48337984 [A/T] NM_152701 ABCA13 EXON Missense_M3074K exm620771 7 48338050 [A/G] NM_152701 ABCA13 EXON Missense_H3096R exm620777 7 48349583 [T/G] NM_152701 ABCA13 EXON Missense_C3121G exm620779 7 48349595 [A/G] NM_152701 ABCA13 EXON Missense_I3125V exm620783 7 48349643 [A/G] NM_152701 ABCA13 EXON Missense_A3141T exm620784 7 48349647 [T/C] NM_152701 ABCA13 EXON Missense_A3142V exm620787 7 48349659 [A/G] NM_152701 ABCA13 EXON Missense_C3146Y exm620791 7 48352698 [A/G] NM_152701 ABCA13 EXON Missense_N3184S exm620793 7 48352767 [T/C] NM_152701 ABCA13 EXON Missense_L3207P exm2258370 7 48352801 [G/C] NM_152701 ABCA13 EXON Synonymous_A3218A exm2274237 7 48353853 [A/G] NM_152701 ABCA13 EXON Missense_S3236G exm620798 7 48353901 [G/C] NM_152701 ABCA13 EXON Missense_D3252H exm620802 7 48353935 [T/G] NM_152701 ABCA13 EXON Missense_F3263C exm620805 7 48353991 [A/G] NM_152701 ABCA13 EXON Missense_I3282V exm620806 7 48356757 [T/C] NM_152701 ABCA13 EXON Missense_P3288L exm620809 7 48356801 [C/G] NM_152701 ABCA13 EXON Missense_G3303R exm620816 7 48377981 [T/C] NM_152701 ABCA13 EXON Missense_F3378S exm620819 7 48378029 [T/A] NM_152701 ABCA13 EXON Missense_L3394H exm620821 7 48390251 [T/G] NM_152701 ABCA13 EXON Missense_D3406Y exm620822 7 48390273 [T/G] NM_152701 ABCA13 EXON Missense_G3413V exm2151117 7 48390306 [T/C] NM_152701 ABCA13 EXON Missense_L3424S exm2151118 7 48390362 [A/G] NM_152701 ABCA13 EXON Missense_D3443N exm620834 7 48391844 [A/G] NM_152701 ABCA13 EXON Missense_H3483R exm2277345 7 48392079 [A/C] NM_152701 ABCA13 EXON Missense_S3561R exm620847 7 48407486 [A/G] NM_152701 ABCA13 EXON Missense_Q3595R exm620849 7 48411772 [A/G] NM_152701 ABCA13 EXON Missense_R3604Q exm620850 7 48411787 [A/C] NM_152701 ABCA13 EXON Missense_H3609P exm620859 7 48412084 [A/T] NM_152701 ABCA13 EXON Missense_Q3708L exm620862 7 48413954 [T/C] NM_152701 ABCA13 EXON Missense_S3715L exm620870 7 48416127 [T/C] NM_152701 ABCA13 EXON Missense_L3765F exm620875 7 48427520 [A/C] NM_152701 ABCA13 EXON Missense_S3813R exm620876 7 48427527 [A/T] NM_152701 ABCA13 EXON Missense_F3815Y exm620880 7 48428682 [T/C] NM_152701 ABCA13 EXON Missense_P3840L exm620881 7 48428715 [A/T] NM_152701 ABCA13 EXON Missense_Y3851F exm620887 7 48431529 [T/C] NM_152701 ABCA13 EXON Missense_T3889M exm620889 7 48431543 [T/C] NM_152701 ABCA13 EXON Missense_P3894S exm620894 7 48431657 [A/G] NM_152701 ABCA13 EXON Missense_V3932I exm620897 7 48431694 [T/C] NM_152701 ABCA13 EXON Missense_A3944V exm620909 7 48450120 [A/G] NM_152701 ABCA13 EXON Missense_R4025H exm620910 7 48450123 [T/C] NM_152701 ABCA13 EXON Missense_T4026M exm2258371 7 48450157 [T/C] NM_152701 ABCA13 EXON Synonymous_A4037A exm620913 7 48450173 [T/C] NM_152701 ABCA13 EXON Missense_R4043C exm620916 7 48450182 [A/G] NM_152701 ABCA13 EXON Missense_V4046I exm620917 7 48450185 [G/C] NM_152701 ABCA13 EXON Missense_L4047V exm620921 7 48450254 [T/C] NM_152701 ABCA13 EXON Missense_R4070C exm620925 7 48451950 [T/C] NM_152701 ABCA13 EXON Missense_P4077S exm620930 7 48451975 [T/C] NM_152701 ABCA13 EXON Missense_L4085P exm620937 7 48452181 [T/G] NM_152701 ABCA13 Silent exm620955 7 48494883 [A/G] NM_152701 ABCA13 EXON Missense_S4272N exm620957 7 48506566 [A/G] NM_152701 ABCA13 EXON Missense_N4277D exm620961 7 48506639 [A/G] NM_152701 ABCA13 EXON Missense_R4301H exm620962 7 48506642 [A/G] NM_152701 ABCA13 EXON Missense_Q4302R exm620967 7 48520660 [C/G] NM_152701 ABCA13 EXON Missense_P4335A exm2151206 7 48520686 [A/C] NM_152701 ABCA13 EXON Missense_H4343Q exm620970 7 48520717 [T/G] NM_152701 ABCA13 EXON Nonsense_E4354X exm620973 7 48528876 [T/G] NM_152701 ABCA13 EXON Nonsense_L4409X exm620974 7 48528918 [T/C] NM_152701 ABCA13 EXON Missense_P4423L exm620975 7 48528923 [C/G] NM_152701 ABCA13 EXON Missense_V4425L exm620978 7 48545976 [A/G] NM_152701 ABCA13 EXON Missense_K4446E exm620980 7 48547481 [T/C] NM_152701 ABCA13 EXON Missense_R4454C exm620981 7 48547511 [A/C] NM_152701 ABCA13 EXON Missense_L4464M exm620986 7 48547565 [T/G] NM_152701 ABCA13 EXON Missense_V4482L exm2151223 7 48550771 [T/C] NM_152701 ABCA13 EXON Missense_T4539M exm620994 7 48556328 [A/G] NM_152701 ABCA13 EXON Missense_T4550A exm620999 7 48556448 [T/C] NM_152701 ABCA13 EXON Missense_R4590W exm621006 7 48559827 [T/C] NM_152701 ABCA13 EXON Missense_S4663L exm621012 7 48563930 [A/C] NM_152701 ABCA13 EXON Missense_T4713N exm621014 7 48563974 [T/C] NM_152701 ABCA13 EXON Nonsense_R4728X exm621016 7 48563977 [T/C] NM_152701 ABCA13 EXON Missense_R4729C exm621025 7 48619824 [A/G] NM_152701 ABCA13 EXON Missense_A4787T exm621030 7 48619941 [T/C] NM_152701 ABCA13 EXON Missense_R4826C exm621033 7 48626765 [A/G] NM_152701 ABCA13 EXON Missense_I4841V exm621034 7 48626771 [T/C] NM_152701 ABCA13 EXON Missense_R4843C exm621036 7 48626831 [T/C] NM_152701 ABCA13 EXON Missense_R4863W exm2270750 7 48628104 [T/G] NM_152701 ABCA13 Silent exm2258374 7 49435299 [T/C] exm621080 7 49815474 [T/C] NM_198570 VWC2 EXON Missense_P148L exm2264262 7 49836460 [A/C] NM_198570 VWC2 Silent exm621095 7 49842377 [A/C] NM_198570 VWC2 EXON Missense_Q256P exm621100 7 49951653 [A/G] NM_198570 VWC2 EXON Missense_A284T exm621105 7 49951764 [G/C] NM_198570 VWC2 EXON Missense_E321Q exm621113 7 49977193 [T/G] NM_007009,NM_001159878 ZPBP,ZPBP EXON Missense_N329K,Missense_N328K exm621126 7 50057870 [T/A] NM_007009,NM_001159878 ZPBP,ZPBP EXON Missense_D250V,Missense_D249V exm621135 7 50070873 [G/C] NM_007009,NM_001159878 ZPBP,ZPBP EXON Missense_T174R,Missense_T173R exm2258377 7 50097697 [A/G] NM_007009,NM_001159878 ZPBP,ZPBP EXON Synonymous_L125L,Synonymous_L124L exm2245728 7 50132717 [G/C] NM_007009,NM_001159878 ZPBP,ZPBP EXON Missense_R25P,Missense_R25P exm621168 7 50135931 [T/C] NM_001161834 C7orf72 EXON Missense_Y84H exm2245729 7 50136014 [T/G] NM_001161834 C7orf72 EXON Missense_M111I exm621176 7 50143943 [A/C] NM_001161834 C7orf72 EXON Missense_Q196P exm621188 7 50175760 [T/G] NM_001161834 C7orf72 EXON Missense_F312V exm621193 7 50180898 [A/T] NM_001161834 C7orf72 EXON Missense_N333K exm621194 7 50180972 [T/C] NM_001161834 C7orf72 EXON Missense_T358I exm-rs7805803 7 50225391 [A/G] exm-rs1456893 7 50269672 [A/G] exm-rs1456896 7 50304461 [T/C] exm-rs4917014 7 50305863 [T/G] exm-rs12718597 7 50428428 [A/C] NM_001220776,NM_001220766,NM_001220767,NM_001220769,NM_001220772,NM_001220771,NM_001220770,NM_001220774,NM_006060,NM_001220768,NM_001220773,NM_001220765,NM_001220775 IKZF1,IKZF1,IKZF1,IKZF1,IKZF1,IKZF1,IKZF1,IKZF1,IKZF1,IKZF1,IKZF1,IKZF1,IKZF1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm2270613 7 50428445 [T/C] NM_001220776,NM_001220766,NM_001220767,NM_001220769,NM_001220772,NM_001220771,NM_001220770,NM_001220774,NM_006060,NM_001220768,NM_001220773,NM_001220765,NM_001220775 IKZF1,IKZF1,IKZF1,IKZF1,IKZF1,IKZF1,IKZF1,IKZF1,IKZF1,IKZF1,IKZF1,IKZF1,IKZF1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm621211 7 50455095 [A/C] NM_001220776,NM_001220766,NM_001220767,NM_001220769,NM_001220772,NM_001220771,NM_001220770,NM_001220774,NM_006060,NM_001220768,NM_001220773,NM_001220765,NM_001220775 IKZF1,IKZF1,IKZF1,IKZF1,IKZF1,IKZF1,IKZF1,IKZF1,IKZF1,IKZF1,IKZF1,IKZF1,IKZF1 EXON Silent,Missense_S127R,Missense_S127R,Silent,Silent,Silent,Silent,Missense_S31R,Missense_S214R,Silent,Missense_S31R,Silent,Silent exm2245733 7 50459465 [A/G] NM_001220776,NM_001220766,NM_001220767,NM_001220769,NM_001220772,NM_001220771,NM_001220770,NM_001220774,NM_006060,NM_001220768,NM_001220773,NM_001220765,NM_001220775 IKZF1,IKZF1,IKZF1,IKZF1,IKZF1,IKZF1,IKZF1,IKZF1,IKZF1,IKZF1,IKZF1,IKZF1,IKZF1 EXON Missense_D27N,Missense_D165N,Missense_D165N,Missense_D123N,Silent,Silent,Missense_D123N,Missense_D69N,Missense_D252N,Silent,Missense_D69N,Missense_D210N,Missense_D27N exm-rs11978267 7 50466304 [A/G] NM_001220776,NM_001220766,NM_001220767,NM_001220769,NM_001220772,NM_001220771,NM_001220770,NM_001220774,NM_006060,NM_001220768,NM_001220773,NM_001220765,NM_001220775 IKZF1,IKZF1,IKZF1,IKZF1,IKZF1,IKZF1,IKZF1,IKZF1,IKZF1,IKZF1,IKZF1,IKZF1,IKZF1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm621219 7 50467774 [A/G] NM_001220776,NM_001220766,NM_001220767,NM_001220769,NM_001220772,NM_001220771,NM_001220770,NM_001220774,NM_006060,NM_001220768,NM_001220773,NM_001220765,NM_001220775 IKZF1,IKZF1,IKZF1,IKZF1,IKZF1,IKZF1,IKZF1,IKZF1,IKZF1,IKZF1,IKZF1,IKZF1,IKZF1 EXON Missense_G102S,Missense_G250S,Missense_G240S,Missense_G208S,Missense_G67S,Missense_G194S,Missense_G198S,Missense_G144S,Missense_G337S,Missense_G250S,Missense_G154S,Missense_G295S,Missense_G112S exm621220 7 50467818 [A/C] NM_001220776,NM_001220766,NM_001220767,NM_001220769,NM_001220772,NM_001220771,NM_001220770,NM_001220774,NM_006060,NM_001220768,NM_001220773,NM_001220765,NM_001220775 IKZF1,IKZF1,IKZF1,IKZF1,IKZF1,IKZF1,IKZF1,IKZF1,IKZF1,IKZF1,IKZF1,IKZF1,IKZF1 EXON Missense_H116Q,Missense_H264Q,Missense_H254Q,Missense_H222Q,Missense_H81Q,Missense_H208Q,Missense_H212Q,Missense_H158Q,Missense_H351Q,Missense_H264Q,Missense_H168Q,Missense_H309Q,Missense_H126Q exm-rs4132601 7 50470604 [T/G] NM_001220776,NM_001220766,NM_001220767,NM_001220769,NM_001220772,NM_001220771,NM_001220770,NM_001220774,NM_006060,NM_001220768,NM_001220773,NM_001220765,NM_001220775 IKZF1,IKZF1,IKZF1,IKZF1,IKZF1,IKZF1,IKZF1,IKZF1,IKZF1,IKZF1,IKZF1,IKZF1,IKZF1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm621246 7 50513062 [T/C] NM_022116,NM_001042762 FIGNL1,FIGNL1 EXON Missense_I642V,Missense_I642V exm621249 7 50513088 [A/G] NM_022116,NM_001042762 FIGNL1,FIGNL1 EXON Missense_P633L,Missense_P633L exm621255 7 50513160 [A/G] NM_022116,NM_001042762 FIGNL1,FIGNL1 EXON Missense_T609I,Missense_T609I exm621257 7 50513225 [G/C] NM_022116,NM_001042762 FIGNL1,FIGNL1 EXON Missense_C587W,Missense_C587W exm621258 7 50513244 [A/G] NM_022116,NM_001042762 FIGNL1,FIGNL1 EXON Missense_M581T,Missense_M581T exm621265 7 50513374 [A/G] NM_022116,NM_001042762 FIGNL1,FIGNL1 EXON Missense_R538C,Missense_R538C exm621274 7 50513569 [T/G] NM_022116,NM_001042762 FIGNL1,FIGNL1 EXON Missense_K473Q,Missense_K473Q exm621277 7 50513721 [A/C] NM_022116,NM_001042762 FIGNL1,FIGNL1 EXON Missense_L422W,Missense_L422W exm621278 7 50513797 [A/G] NM_022116,NM_001042762 FIGNL1,FIGNL1 EXON Missense_P397S,Missense_P397S exm621283 7 50514030 [A/G] NM_022116,NM_001042762 FIGNL1,FIGNL1 EXON Missense_S319F,Missense_S319F exm621291 7 50514169 [T/C] NM_022116,NM_001042762 FIGNL1,FIGNL1 EXON Missense_I273V,Missense_I273V exm621294 7 50514204 [T/C] NM_022116,NM_001042762 FIGNL1,FIGNL1 EXON Missense_Y261C,Missense_Y261C exm621299 7 50514279 [A/G] NM_022116,NM_001042762 FIGNL1,FIGNL1 EXON Missense_I236T,Missense_I236T exm621303 7 50514340 [A/G] NM_022116,NM_001042762 FIGNL1,FIGNL1 EXON Missense_H216Y,Missense_H216Y exm621305 7 50514436 [A/G] NM_022116,NM_001042762 FIGNL1,FIGNL1 EXON Missense_L184F,Missense_L184F exm621314 7 50514577 [T/C] NM_022116,NM_001042762 FIGNL1,FIGNL1 EXON Missense_V137M,Missense_V137M exm621320 7 50514670 [T/C] NM_022116,NM_001042762 FIGNL1,FIGNL1 EXON Missense_I106V,Missense_I106V exm621321 7 50514693 [T/C] NM_022116,NM_001042762 FIGNL1,FIGNL1 EXON Missense_D98G,Missense_D98G exm621331 7 50514889 [T/C] NM_022116,NM_001042762 FIGNL1,FIGNL1 EXON Missense_A33T,Missense_A33T exm621332 7 50514904 [T/C] NM_022116,NM_001042762 FIGNL1,FIGNL1 EXON Missense_G28R,Missense_G28R exm621333 7 50514918 [G/C] NM_022116,NM_001042762 FIGNL1,FIGNL1 EXON Missense_S23C,Missense_S23C exm621334 7 50514946 [A/G] NM_022116,NM_001042762 FIGNL1,FIGNL1 EXON Missense_W14R,Missense_W14R exm621337 7 50530946 [A/G] NM_001242886,NM_001242887,NM_000790,NM_001242889,NM_001242888,NM_001082971 DDC,DDC,DDC,DDC,DDC,DDC EXON Nonsense_R438X,Nonsense_R428X,Nonsense_R476X,Nonsense_R383X,Nonsense_R398X,Nonsense_R476X exm621342 7 50530987 [T/C] NM_001242886,NM_001242887,NM_000790,NM_001242889,NM_001242888,NM_001082971 DDC,DDC,DDC,DDC,DDC,DDC EXON Missense_R424Q,Missense_R414Q,Missense_R462Q,Missense_R369Q,Missense_R384Q,Missense_R462Q exm621354 7 50537775 [T/C] NM_001242886,NM_001242887,NM_000790,NM_001242889,NM_001242888,NM_001082971 DDC,DDC,DDC,DDC,DDC,DDC EXON Missense_R341H,Missense_R331H,Missense_R379H,Missense_R286H,Missense_R301H,Missense_R379H exm-rs4580999 7 50546261 [T/C] NM_001242886,NM_001242887,NM_000790,NM_001242889,NM_001242888,NM_001082971 DDC,DDC,DDC,DDC,DDC,DDC Silent,Silent,Silent,Silent,Silent,Silent exm621381 7 50571757 [A/T] NM_001242886,NM_001242887,NM_000790,NM_001242889,NM_001242888,NM_001082971,NM_001242890 DDC,DDC,DDC,DDC,DDC,DDC,DDC EXON Missense_M201L,Missense_M191L,Missense_M239L,Missense_M146L,Missense_M161L,Missense_M239L,Missense_M239L exm621389 7 50595900 [T/C] NM_001242886,NM_001242887,NM_000790,NM_001242889,NM_001242888,NM_001082971,NM_001242890 DDC,DDC,DDC,DDC,DDC,DDC,DDC EXON Missense_M179V,Silent,Missense_M217V,Silent,Missense_M139V,Missense_M217V,Missense_M217V exm621390 7 50595920 [A/G] NM_001242886,NM_001242887,NM_000790,NM_001242889,NM_001242888,NM_001082971,NM_001242890 DDC,DDC,DDC,DDC,DDC,DDC,DDC EXON Missense_P172L,Silent,Missense_P210L,Silent,Missense_P132L,Missense_P210L,Missense_P210L exm2151411 7 50596926 [C/G] NM_001242886,NM_001242887,NM_000790,NM_001242889,NM_001242888,NM_001082971,NM_001242890 DDC,DDC,DDC,DDC,DDC,DDC,DDC EXON Missense_V146L,Missense_V184L,Missense_V184L,Silent,Missense_V106L,Missense_V184L,Missense_V184L exm621411 7 50611601 [A/C] NM_001242886,NM_001242887,NM_000790,NM_001242889,NM_001242888,NM_001082971,NM_001242890 DDC,DDC,DDC,DDC,DDC,DDC,DDC EXON Missense_E61D,Missense_E61D,Missense_E61D,Missense_E61D,Missense_E61D,Missense_E61D,Missense_E61D exm621419 7 50611735 [T/C] NM_001242886,NM_001242887,NM_000790,NM_001242889,NM_001242888,NM_001082971,NM_001242890 DDC,DDC,DDC,DDC,DDC,DDC,DDC EXON Missense_M17V,Missense_M17V,Missense_M17V,Missense_M17V,Missense_M17V,Missense_M17V,Missense_M17V exm621421 7 50611764 [T/C] NM_001242886,NM_001242887,NM_000790,NM_001242889,NM_001242888,NM_001082971,NM_001242890 DDC,DDC,DDC,DDC,DDC,DDC,DDC EXON Missense_R7Q,Missense_R7Q,Missense_R7Q,Missense_R7Q,Missense_R7Q,Missense_R7Q,Missense_R7Q exm-rs1451375 7 50622712 [A/C] NM_001242886,NM_001242887,NM_000790,NM_001242889,NM_001242888,NM_001082971,NM_001242890 DDC,DDC,DDC,DDC,DDC,DDC,DDC Silent,Silent,Silent,Silent,Silent,Silent,Silent exm-rs12540874 7 50664922 [A/G] NM_001001555,NM_005311,NM_001001550,NM_001001549 GRB10,GRB10,GRB10,GRB10 Silent,Silent,Silent,Silent exm621437 7 50671714 [G/C] NM_001001555,NM_005311,NM_001001550,NM_001001549 GRB10,GRB10,GRB10,GRB10 EXON Missense_Q451E,Missense_Q509E,Missense_Q451E,Missense_Q463E exm2270751 7 50690487 [T/C] NM_001001555,NM_005311,NM_001001550,NM_001001549 GRB10,GRB10,GRB10,GRB10 Silent,Silent,Silent,Silent exm621482 7 50694581 [T/C] NM_001001555,NM_005311,NM_001001550,NM_001001549 GRB10,GRB10,GRB10,GRB10 EXON Missense_K142R,Missense_K200R,Missense_K142R,Missense_K200R exm-rs2715094 7 50730452 [A/G] NM_001001555,NM_005311,NM_001001550,NM_001001549 GRB10,GRB10,GRB10,GRB10 Silent,Silent,Silent,Silent exm621491 7 50737469 [C/G] NM_001001555,NM_005311,NM_001001550,NM_001001549 GRB10,GRB10,GRB10,GRB10 EXON Missense_P94A,Missense_P152A,Missense_P94A,Missense_P152A exm621495 7 50742164 [A/G] NM_001001555,NM_005311,NM_001001550,NM_001001549 GRB10,GRB10,GRB10,GRB10 EXON Missense_R53C,Missense_R111C,Missense_R53C,Missense_R111C exm2151458 7 50742212 [A/G] NM_001001555,NM_005311,NM_001001550,NM_001001549 GRB10,GRB10,GRB10,GRB10 EXON Missense_P37S,Missense_P95S,Missense_P37S,Missense_P95S exm621500 7 50742227 [T/G] NM_001001555,NM_005311,NM_001001550,NM_001001549 GRB10,GRB10,GRB10,GRB10 EXON Missense_P32T,Missense_P90T,Missense_P32T,Missense_P90T exm621505 7 50742323 [T/C] NM_001001555,NM_005311,NM_001001550,NM_001001549 GRB10,GRB10,GRB10,GRB10 EXON Silent,Missense_D58N,Silent,Missense_D58N exm621507 7 50742326 [T/C] NM_001001555,NM_005311,NM_001001550,NM_001001549 GRB10,GRB10,GRB10,GRB10 EXON Silent,Missense_N57D,Silent,Missense_N57D exm-rs10248619 7 50751090 [T/C] NM_001001555,NM_005311,NM_001001550,NM_001001549 GRB10,GRB10,GRB10,GRB10 Silent,Silent,Silent,Silent exm-rs933360 7 50758245 [T/C] NM_001001555,NM_005311,NM_001001550,NM_001001549 GRB10,GRB10,GRB10,GRB10 Silent,Silent,Silent,Silent exm621511 7 50771548 [T/C] NM_001001555,NM_005311,NM_001001550,NM_001001549 GRB10,GRB10,GRB10,GRB10 EXON Silent,Missense_A37T,Silent,Missense_A37T exm621512 7 50771550 [A/G] NM_001001555,NM_005311,NM_001001550,NM_001001549 GRB10,GRB10,GRB10,GRB10 EXON Silent,Missense_P36L,Silent,Missense_P36L exm-rs2108349 7 50786663 [A/G] NM_001001555,NM_005311,NM_001001549 GRB10,GRB10,GRB10 Silent,Silent,Silent exm-rs6943153 7 50791579 [T/C] NM_001001555,NM_005311,NM_001001549 GRB10,GRB10,GRB10 Silent,Silent,Silent exm2151469 7 50799974 [A/G] NM_001001555,NM_005311,NM_001001549 GRB10,GRB10,GRB10 EXON Silent,Missense_Y16H,Missense_Y16H exm621520 7 50800049 [A/T] NM_001001555,NM_005311,NM_001001549 GRB10,GRB10,GRB10 EXON Silent,Silent,Silent exm-rs4948088 7 51027194 [A/C] exm621531 7 51092832 [T/C] NM_015198 COBL EXON Missense_G1248S exm621540 7 51092976 [A/G] NM_015198 COBL EXON Missense_L1200F exm621545 7 51093024 [T/C] NM_015198 COBL EXON Missense_A1184T exm621553 7 51094269 [A/G] NM_015198 COBL EXON Missense_H1160Y exm621574 7 51095665 [A/G] NM_015198 COBL EXON Missense_A1043V exm621576 7 51095696 [T/C] NM_015198 COBL EXON Missense_S1033G exm621591 7 51095939 [G/C] NM_015198 COBL EXON Missense_G952R exm621595 7 51096014 [T/C] NM_015198 COBL EXON Missense_D927N exm621596 7 51096036 [C/G] NM_015198 COBL EXON Missense_H919Q exm621601 7 51096121 [T/C] NM_015198 COBL EXON Missense_Y891C exm621604 7 51096155 [T/C] NM_015198 COBL EXON Missense_K880E exm621620 7 51096355 [A/G] NM_015198 COBL EXON Missense_P813L exm621622 7 51096361 [A/G] NM_015198 COBL EXON Missense_P811L exm621624 7 51096394 [A/G] NM_015198 COBL EXON Missense_T800M exm621627 7 51096418 [A/G] NM_015198 COBL EXON Missense_P792L exm621628 7 51096473 [T/G] NM_015198 COBL EXON Missense_N774H exm2275944 7 51096640 [C/G] NM_015198 COBL EXON Missense_R718P exm621660 7 51096830 [G/C] NM_015198 COBL EXON Missense_A655P exm621662 7 51096835 [T/C] NM_015198 COBL EXON Missense_G653D exm621665 7 51096910 [A/G] NM_015198 COBL EXON Missense_A628V exm621666 7 51096913 [A/G] NM_015198 COBL EXON Missense_T627M exm621668 7 51096974 [T/C] NM_015198 COBL EXON Missense_V607I exm2151533 7 51096986 [T/C] NM_015198 COBL EXON Missense_A603T exm621671 7 51096992 [A/G] NM_015198 COBL EXON Missense_H601Y exm621677 7 51097063 [T/G] NM_015198 COBL EXON Missense_D577A exm621683 7 51097193 [T/C] NM_015198 COBL EXON Missense_G534S exm621685 7 51097216 [A/G] NM_015198 COBL EXON Missense_P526L exm621687 7 51097237 [T/C] NM_015198 COBL EXON Missense_H519R exm621688 7 51097255 [A/G] NM_015198 COBL EXON Missense_S513F exm621694 7 51098573 [T/A] NM_015198 COBL EXON Missense_E480D exm621702 7 51111213 [T/C] NM_015198 COBL EXON Missense_S425G exm2151541 7 51111332 [A/G] NM_015198 COBL EXON Missense_L385P exm621715 7 51152901 [T/C] NM_015198 COBL EXON Missense_R353H exm621716 7 51152902 [G/C] NM_015198 COBL EXON Missense_R353G exm621721 7 51152961 [T/C] NM_015198 COBL EXON Missense_R333Q exm2266410 7 51192268 [A/G] NM_015198 COBL Silent exm621725 7 51203928 [A/G] NM_015198 COBL EXON Missense_S295L exm621726 7 51203935 [T/C] NM_015198 COBL EXON Missense_V293M exm621735 7 51258565 [T/C] NM_015198 COBL EXON Missense_A223T exm2245741 7 51258744 [T/C] NM_015198 COBL EXON Missense_R163Q exm621745 7 51258754 [T/G] NM_015198 COBL EXON Missense_N160H exm621753 7 51261138 [T/C] NM_015198 COBL EXON Missense_V132M exm621767 7 51287525 [T/C] NM_015198 COBL EXON Missense_R53H exm621774 7 51287624 [C/G] NM_015198 COBL EXON Missense_R20P exm621775 7 51287641 [T/C] NM_015198 COBL EXON Synonymous_G14G exm2270752 7 51527696 [T/G] exm2270614 7 51650669 [T/G] exm2270615 7 51963775 [T/C] exm-rs17151293 7 51973256 [T/C] exm2262326 7 52452724 [A/G] exm-rs1012036 7 52472450 [T/C] exm2266411 7 52544356 [A/G] exm2270753 7 52996013 [T/C] exm621782 7 53103398 [A/C] NM_182595 POM121L12 EXON Missense_L12I exm621785 7 53103425 [A/C] NM_182595 POM121L12 EXON Missense_P21T exm621787 7 53103437 [A/G] NM_182595 POM121L12 EXON Missense_G25S exm621791 7 53103512 [T/C] NM_182595 POM121L12 EXON Nonsense_Q50X exm621793 7 53103540 [G/C] NM_182595 POM121L12 EXON Missense_T59S exm621794 7 53103554 [C/G] NM_182595 POM121L12 EXON Missense_Q64E exm621809 7 53103728 [C/G] NM_182595 POM121L12 EXON Missense_G122R exm621810 7 53103729 [C/G] NM_182595 POM121L12 EXON Missense_G122A exm621813 7 53103766 [T/G] NM_182595 POM121L12 EXON Missense_W134C exm621815 7 53103789 [T/C] NM_182595 POM121L12 EXON Missense_A142V exm621821 7 53103834 [C/G] NM_182595 POM121L12 EXON Missense_R157T exm621828 7 53103945 [T/G] NM_182595 POM121L12 EXON Missense_G194V exm621833 7 53103977 [T/G] NM_182595 POM121L12 EXON Missense_G205C exm621836 7 53103991 [A/C] NM_182595 POM121L12 EXON Missense_N209K exm621840 7 53104052 [A/G] NM_182595 POM121L12 EXON Missense_V230M exm621847 7 53104142 [G/C] NM_182595 POM121L12 EXON Missense_A260P exm2258387 7 53216005 [T/C] exm-rs6593122 7 54181932 [T/C] exm2270754 7 54219207 [T/C] exm2266413 7 54318757 [A/G] exm621856 7 54610426 [A/G] NM_182546 VSTM2A EXON Missense_M1I exm621880 7 54617675 [A/G] NM_182546 VSTM2A EXON Missense_N149S exm621887 7 54617761 [A/G] NM_182546 VSTM2A EXON Missense_A178T exm621890 7 54617801 [A/G] NM_182546 VSTM2A EXON Missense_R191Q exm2266414 7 54966019 [A/G] exm-rs2252586 7 54978924 [T/C] exm2262329 7 55009890 [A/C] exm-rs11979158 7 55159349 [A/G] NM_201283,NM_201282,NM_201284,NM_005228 EGFR,EGFR,EGFR,EGFR Silent,Silent,Silent,Silent exm621923 7 55211050 [A/G] NM_201283,NM_201282,NM_201284,NM_005228 EGFR,EGFR,EGFR,EGFR EXON Missense_R98Q,Missense_R98Q,Missense_R98Q,Missense_R98Q exm621944 7 55221725 [A/G] NM_201283,NM_201282,NM_201284,NM_005228 EGFR,EGFR,EGFR,EGFR EXON Missense_E257K,Missense_E257K,Missense_E257K,Missense_E257K exm621946 7 55221800 [A/G] NM_201283,NM_201282,NM_201284,NM_005228 EGFR,EGFR,EGFR,EGFR EXON Missense_E282K,Missense_E282K,Missense_E282K,Missense_E282K exm2258398 7 55223176 [A/G] NM_201283,NM_201282,NM_201284,NM_005228 EGFR,EGFR,EGFR,EGFR Silent,Silent,Silent,Silent exm621975 7 55229255 [A/G] NM_201282,NM_201284,NM_005228 EGFR,EGFR,EGFR EXON Missense_R521K,Missense_R521K,Missense_R521K exm621977 7 55229273 [A/G] NM_201282,NM_201284,NM_005228 EGFR,EGFR,EGFR EXON Missense_R527Q,Missense_R527Q,Missense_R527Q exm621981 7 55231426 [T/C] NM_201282,NM_201284,NM_005228 EGFR,EGFR,EGFR EXON Synonymous_G544G,Synonymous_G544G,Synonymous_G544G exm621987 7 55233024 [A/G] NM_201282,NM_201284,NM_005228 EGFR,EGFR,EGFR EXON Missense_V592I,Missense_V592I,Missense_V592I exm2258399 7 55233101 [T/C] NM_201282,NM_201284,NM_005228 EGFR,EGFR,EGFR EXON Synonymous_C617C,Synonymous_C617C,Synonymous_C617C exm622011 7 55238022 [T/G] NM_201284,NM_005228 EGFR,EGFR EXON Missense_A635S,Silent exm622017 7 55238142 [C/G] NM_201284,NM_005228 EGFR,EGFR EXON Missense_L675V,Silent exm622023 7 55238226 [T/C] NM_201284,NM_005228 EGFR,EGFR EXON Missense_S703P,Silent exm622024 7 55238227 [T/C] NM_201284,NM_005228 EGFR,EGFR EXON Missense_S703F,Silent exm622036 7 55240692 [A/C] NM_005228 EGFR EXON Missense_I646L exm622040 7 55240780 [A/G] NM_005228 EGFR EXON Missense_R675Q exm622049 7 55241732 [A/G] NM_005228 EGFR EXON Missense_Y727C exm622065 7 55259434 [A/G] NM_005228 EGFR EXON Missense_R831H exm622075 7 55259485 [T/C] NM_005228 EGFR EXON Missense_P848L exm622082 7 55268045 [A/G] NM_005228 EGFR EXON Missense_R962H exm622085 7 55268897 [A/C] NM_005228 EGFR EXON Missense_H988P exm2151916 7 55269456 [T/C] NM_005228 EGFR EXON Missense_A1048V exm622122 7 55273144 [A/C] NM_005228 EGFR EXON Missense_H1156P exm622124 7 55273162 [A/G] NM_005228 EGFR EXON Missense_S1162N exm622129 7 55273306 [T/C] NM_005228 EGFR EXON Missense_A1210V exm622146 7 55433884 [A/C] NM_018697 LANCL2 EXON Missense_T56P exm622147 7 55433889 [T/G] NM_018697 LANCL2 EXON Missense_D57E exm622150 7 55459501 [A/G] NM_018697 LANCL2 EXON Missense_I74V exm622169 7 55468879 [A/G] NM_018697 LANCL2 EXON Missense_I231V exm622172 7 55468922 [T/C] NM_018697 LANCL2 EXON Missense_T245M exm622175 7 55468955 [A/G] NM_018697 LANCL2 EXON Missense_R256Q exm622178 7 55479613 [T/C] NM_018697 LANCL2 EXON Missense_V280A exm622182 7 55479709 [A/G] NM_018697 LANCL2 EXON Missense_N312S exm622183 7 55479727 [T/G] NM_018697 LANCL2 EXON Missense_V318G exm622203 7 55498973 [A/G] NM_018697 LANCL2 EXON Missense_R438Q exm622218 7 55540711 [T/G] NM_030796 VOPP1 EXON Missense_Y119S exm622231 7 55565328 [T/G] NM_030796 VOPP1 EXON Missense_I57L exm-rs10239854 7 55714282 [A/G] exm2266523 7 55855180 [A/G] exm2270617 7 55863123 [T/G] NM_207366 SEPT14 EXON Silent exm622267 7 55874811 [T/C] NM_207366 SEPT14 EXON Missense_D320N exm622281 7 55902230 [T/C] NM_207366 SEPT14 EXON Missense_D203G exm622282 7 55902239 [A/G] NM_207366 SEPT14 EXON Missense_S200F exm622288 7 55910775 [T/G] NM_207366 SEPT14 EXON Missense_L140I exm622290 7 55912308 [A/C] NM_207366 SEPT14 EXON Missense_I93M exm622292 7 55912345 [T/C] NM_207366 SEPT14 EXON Missense_K81R exm622296 7 55914242 [T/C] NM_207366 SEPT14 EXON Missense_R48Q exm622297 7 55914251 [C/G] NM_207366 SEPT14 EXON Missense_R45T exm622305 7 55929680 [T/C] NM_207366 SEPT14 EXON Missense_R4G exm622306 7 55929686 [T/C] NM_207366 SEPT14 EXON Missense_A2T exm622309 7 55980381 [T/G] NM_182633 ZNF713 EXON Nonsense_E5X exm622310 7 55980404 [A/G] NM_182633 ZNF713 EXON Missense_M12I exm622332 7 56006962 [A/G] NM_182633 ZNF713 EXON Missense_R186G exm622342 7 56007319 [A/G] NM_182633 ZNF713 EXON Missense_G305R exm622344 7 56007397 [T/G] NM_182633 ZNF713 EXON Missense_C331G exm2152067 7 56007584 [T/C] NM_182633 ZNF713 EXON Missense_A393V exm622367 7 56020992 [T/G] NM_015969 MRPS17 EXON Missense_L35R exm622399 7 56049918 [A/G] NM_001483,NM_001202469 GBAS,GBAS EXON Missense_Y130C,Silent exm622403 7 56049954 [A/G] NM_001483,NM_001202469 GBAS,GBAS EXON Missense_N142S,Silent exm622414 7 56062601 [A/G] NM_001483,NM_001202469 GBAS,GBAS EXON Missense_R211H,Missense_R172H exm622419 7 56062666 [A/G] NM_001483,NM_001202469 GBAS,GBAS EXON Missense_V233M,Missense_V194M exm2270618 7 56068980 [T/C] exm622435 7 56079483 [A/G] NM_004577 PSPH EXON Missense_V217A exm622439 7 56082831 [A/G] NM_004577 PSPH EXON Missense_T152I exm622449 7 56087300 [T/C] NM_004577 PSPH EXON Missense_G90S exm622463 7 56087422 [T/C] NM_004577 PSPH EXON Missense_R49Q exm622471 7 56088778 [A/G] NM_004577 PSPH EXON Missense_A43V exm622476 7 56088791 [T/C] NM_004577 PSPH EXON Missense_G39S exm622484 7 56088902 [T/C] NM_004577 PSPH EXON Missense_V2I exm622513 7 56124095 [A/G] NM_001009186,NM_001762 CCT6A,CCT6A EXON Missense_E156G,Missense_E201G exm622519 7 56125757 [A/G] NM_001009186,NM_001762 CCT6A,CCT6A EXON Missense_Y184C,Missense_Y229C exm622520 7 56125762 [T/C] NM_001009186,NM_001762 CCT6A,CCT6A EXON Missense_L186F,Missense_L231F exm622526 7 56126149 [A/G] NM_001009186,NM_001762 CCT6A,CCT6A EXON Missense_I229V,Missense_I274V exm622540 7 56128046 [G/C] NM_001009186,NM_001762 CCT6A,CCT6A EXON Missense_L339V,Missense_L384V exm2152130 7 56128100 [A/G] NM_001009186,NM_001762 CCT6A,CCT6A EXON Missense_I357V,Missense_I402V exm622564 7 56130725 [A/G] NM_001009186,NM_001762 CCT6A,CCT6A EXON Missense_I470V,Missense_I515V exm622582 7 56136260 [A/C] NM_001042470,NM_001146333,NM_001130069,NM_015411,NM_001042469 SUMF2,SUMF2,SUMF2,SUMF2,SUMF2 EXON Missense_D70E,Silent,Missense_D70E,Missense_D70E,Missense_D70E exm622586 7 56136277 [T/C] NM_001042470,NM_001146333,NM_001130069,NM_015411,NM_001042469 SUMF2,SUMF2,SUMF2,SUMF2,SUMF2 EXON Missense_A76V,Silent,Missense_A76V,Missense_A76V,Missense_A76V exm-IND7-56108253 7 56140760 [I/D] NM_001042470,NM_001146333,NM_001130069,NM_015411,NM_001042469 SUMF2,SUMF2,SUMF2,SUMF2,SUMF2 EXON exm622604 7 56142388 [T/C] NM_001042470,NM_001146333,NM_001130069,NM_015411,NM_001042469 SUMF2,SUMF2,SUMF2,SUMF2,SUMF2 EXON Silent,Missense_T77M,Missense_T184M,Missense_T184M,Missense_T169M exm2152150 7 56142415 [A/G] NM_001042470,NM_001146333,NM_001130069,NM_015411,NM_001042469 SUMF2,SUMF2,SUMF2,SUMF2,SUMF2 EXON Silent,Missense_R86Q,Missense_R193Q,Missense_R193Q,Missense_R178Q exm622607 7 56142421 [G/C] NM_001042470,NM_001146333,NM_001130069,NM_015411,NM_001042469 SUMF2,SUMF2,SUMF2,SUMF2,SUMF2 EXON Silent,Missense_G88A,Missense_G195A,Missense_G195A,Missense_G180A exm622613 7 56144566 [A/G] NM_001042470,NM_001146333,NM_001130069,NM_015411,NM_001042469 SUMF2,SUMF2,SUMF2,SUMF2,SUMF2 EXON Silent,Missense_R104H,Missense_R211H,Missense_R211H,Missense_R196H exm622614 7 56144572 [A/C] NM_001042470,NM_001146333,NM_001130069,NM_015411,NM_001042469 SUMF2,SUMF2,SUMF2,SUMF2,SUMF2 EXON Silent,Missense_N106T,Missense_N213T,Missense_N213T,Missense_N198T exm622620 7 56145825 [A/G] NM_001042470,NM_001146333,NM_001130069,NM_015411,NM_001042469 SUMF2,SUMF2,SUMF2,SUMF2,SUMF2 EXON Missense_D143N,Missense_D120N,Missense_D227N,Missense_D227N,Missense_D212N exm622630 7 56146177 [A/G] NM_001042470,NM_001146333,NM_001130069,NM_015411,NM_001042469 SUMF2,SUMF2,SUMF2,SUMF2,SUMF2 EXON Missense_N201S,Missense_N178S,Silent,Missense_N285S,Missense_N270S exm622633 7 56146191 [A/G] NM_001042470,NM_001146333,NM_001130069,NM_015411,NM_001042469 SUMF2,SUMF2,SUMF2,SUMF2,SUMF2 EXON Missense_V206I,Missense_V183I,Silent,Missense_V290I,Missense_V275I exm622638 7 56147272 [T/C] NM_001042470,NM_001146333,NM_001130069,NM_015411,NM_001042469 SUMF2,SUMF2,SUMF2,SUMF2,SUMF2 EXON Synonymous_A226A,Synonymous_A203A,Missense_L262P,Synonymous_A310A,Synonymous_A295A exm2152161 7 56147350 [T/C] NM_001042470,NM_001146333,NM_001130069,NM_015411,NM_001042469 SUMF2,SUMF2,SUMF2,SUMF2,SUMF2 EXON Silent,Silent,Missense_S288L,Silent,Silent exm622646 7 56147376 [A/G] NM_001042470,NM_001146333,NM_001130069,NM_015411,NM_001042469 SUMF2,SUMF2,SUMF2,SUMF2,SUMF2 EXON Silent,Silent,Missense_A297T,Silent,Silent exm622648 7 56147411 [T/G] NM_001042470,NM_001146333,NM_001130069,NM_015411,NM_001042469 SUMF2,SUMF2,SUMF2,SUMF2,SUMF2 EXON Silent,Silent,Missense_K308N,Silent,Silent exm622652 7 56147553 [A/G] NM_001042470,NM_001146333,NM_001130069,NM_015411,NM_001042469 SUMF2,SUMF2,SUMF2,SUMF2,SUMF2 EXON Silent,Silent,Missense_K356E,Silent,Silent exm622666 7 56148920 [T/C] NM_001258460,NM_001258459,NR_047689,NM_006213 PHKG1,PHKG1,PHKG1,PHKG1 EXON Missense_E322K,Missense_E363K,Silent,Missense_E331K exm622667 7 56148922 [T/C] NM_001258460,NM_001258459,NR_047689,NM_006213 PHKG1,PHKG1,PHKG1,PHKG1 EXON Missense_R321Q,Missense_R362Q,Silent,Missense_R330Q exm622684 7 56149384 [A/G] NM_001258460,NM_001258459,NR_047689,NM_006213 PHKG1,PHKG1,PHKG1,PHKG1 EXON Missense_P277L,Missense_P318L,Silent,Missense_P286L exm622705 7 56149914 [T/C] NM_001258460,NM_001258459,NR_047689,NM_006213 PHKG1,PHKG1,PHKG1,PHKG1 EXON Missense_E185K,Missense_E226K,Silent,Missense_E194K exm2152181 7 56149919 [T/G] NM_001258460,NM_001258459,NR_047689,NM_006213 PHKG1,PHKG1,PHKG1,PHKG1 EXON Missense_A183D,Missense_A224D,Silent,Missense_A192D exm2152184 7 56150988 [A/G] NM_001258460,NM_001258459,NR_047689,NM_006213 PHKG1,PHKG1,PHKG1,PHKG1 EXON Missense_P168L,Missense_P209L,Silent,Missense_P177L exm622715 7 56154669 [A/G] NM_001258460,NM_001258459,NR_047689,NM_006213 PHKG1,PHKG1,PHKG1,PHKG1 EXON Missense_F95S,Missense_F104S,Silent,Missense_F104S exm622723 7 56155371 [A/G] NM_001258460,NM_001258459,NR_047689,NM_006213 PHKG1,PHKG1,PHKG1,PHKG1 EXON Missense_P61L,Missense_P61L,Silent,Missense_P61L exm622726 7 56155390 [T/C] NM_001258460,NM_001258459,NR_047689,NM_006213 PHKG1,PHKG1,PHKG1,PHKG1 EXON Missense_G55S,Missense_G55S,Silent,Missense_G55S exm622728 7 56155414 [T/C] NM_001258460,NM_001258459,NR_047689,NM_006213 PHKG1,PHKG1,PHKG1,PHKG1 EXON Missense_A47T,Missense_A47T,Silent,Missense_A47T exm2152195 7 56170651 [C/G] NM_016139 CHCHD2 EXON Missense_I118M exm622769 7 56174067 [A/G] NM_016139 CHCHD2 EXON Missense_P14S exm622771 7 56174102 [A/G] NM_016139 CHCHD2 EXON Missense_P2L exm622780 7 56183895 [A/C] NM_001145712 NUPR1L EXON Missense_R38L exm2262331 7 56344705 [T/C] exm2270619 7 56698549 [T/G] exm622847 7 57188718 [T/C] NM_033273 ZNF479 EXON Missense_Y135C exm2270620 7 57348834 [T/C] exm2266416 7 57460667 [A/G] exm2270757 7 58007774 [T/C] exm2262335 7 61056053 [A/G] exm2270621 7 62140786 [T/C] exm2266525 7 62177444 [A/G] exm2270622 7 62413547 [T/C] exm622906 7 63529269 [T/C] NM_001159522 ZNF727 EXON Nonsense_R2X exm622911 7 63529988 [A/G] NM_001159522 ZNF727 Silent exm622912 7 63537674 [A/G] NM_001159522 ZNF727 EXON Missense_A83T exm622917 7 63537783 [A/G] NM_001159522 ZNF727 EXON Missense_R119H exm622924 7 63537989 [A/G] NM_001159522 ZNF727 EXON Missense_T188A exm2270623 7 63588181 [T/C] exm622951 7 63674464 [T/G] NM_001159524 ZNF735 EXON Missense_N80K exm622982 7 63726304 [T/C] NM_153363 ZNF679 EXON Missense_P98L exm622984 7 63726370 [A/G] NM_153363 ZNF679 EXON Missense_H120R exm622989 7 63726645 [T/C] NM_153363 ZNF679 EXON Missense_Y212H exm-rs10266483 7 63733331 [A/G] exm2270759 7 63754787 [T/C] exm623015 7 63808518 [A/G] NM_001170905 ZNF736 EXON Missense_D93N exm623017 7 63808665 [A/C] NM_001170905 ZNF736 EXON Missense_S142R exm623018 7 63808729 [A/G] NM_001170905 ZNF736 EXON Missense_H163R exm2266418 7 63910447 [A/G] exm623059 7 63982238 [T/G] NM_178558 ZNF680 EXON Missense_E298D exm623070 7 63982511 [A/C] NM_178558 ZNF680 EXON Missense_E207D exm623076 7 63982623 [T/C] NM_178558 ZNF680 EXON Missense_N170S exm623085 7 63986829 [G/C] NM_178558,NM_001130022 ZNF680,ZNF680 EXON Silent,Missense_S107C exm623088 7 64004097 [G/C] NM_178558,NM_001130022 ZNF680,ZNF680 EXON Missense_A81P,Missense_A81P exm2262339 7 64101034 [A/G] exm623106 7 64152339 [G/C] NM_016220,NM_001013746 ZNF107,ZNF107 Silent,Silent exm623109 7 64166802 [T/G] NM_016220,NM_001013746 ZNF107,ZNF107 EXON Missense_E40D,Missense_E40D exm623111 7 64166825 [A/G] NM_016220,NM_001013746 ZNF107,ZNF107 EXON Missense_C48Y,Missense_C48Y exm623112 7 64166839 [A/G] NM_016220,NM_001013746 ZNF107,ZNF107 EXON Missense_E53K,Missense_E53K exm2152676 7 64167025 [A/G] NM_016220,NM_001013746 ZNF107,ZNF107 EXON Missense_V115M,Missense_V115M exm623136 7 64167502 [T/G] NM_016220,NM_001013746 ZNF107,ZNF107 EXON Missense_C274G,Missense_C274G exm623174 7 64168429 [A/G] NM_016220,NM_001013746 ZNF107,ZNF107 EXON Missense_E583K,Missense_E583K exm623272 7 64291333 [T/A] NM_001271639,NM_001271649,NR_073391,NM_001271637,NM_001271638,NR_073389,NM_001271640,NM_001160183,NM_006524 ZNF138,ZNF138,ZNF138,ZNF138,ZNF138,ZNF138,ZNF138,ZNF138,ZNF138 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_F49Y,Missense_F75Y,Silent exm623275 7 64291405 [A/G] NM_001271639,NM_001271649,NR_073391,NM_001271637,NM_001271638,NR_073389,NM_001271640,NM_001160183,NM_006524 ZNF138,ZNF138,ZNF138,ZNF138,ZNF138,ZNF138,ZNF138,ZNF138,ZNF138 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_G73E,Missense_G99E,Silent exm623278 7 64291854 [T/C] NM_001271639,NM_001271649,NR_073391,NM_001271637,NM_001271638,NR_073389,NM_001271640,NM_001160183,NM_006524 ZNF138,ZNF138,ZNF138,ZNF138,ZNF138,ZNF138,ZNF138,ZNF138,ZNF138 EXON Synonymous_D78D,Silent,Silent,Silent,Synonymous_D46D,Silent,Missense_T98I,Missense_T124I,Synonymous_D52D exm623287 7 64291991 [T/A] NM_001271639,NM_001271649,NR_073391,NM_001271637,NM_001271638,NR_073389,NM_001271640,NM_001160183,NM_006524 ZNF138,ZNF138,ZNF138,ZNF138,ZNF138,ZNF138,ZNF138,ZNF138,ZNF138 EXON Missense_F124Y,Silent,Silent,Silent,Missense_F92Y,Silent,Silent,Silent,Missense_F98Y exm623292 7 64292098 [A/T] NM_001271639,NM_001271649,NR_073391,NM_001271637,NM_001271638,NR_073389,NM_001271640,NM_001160183,NM_006524 ZNF138,ZNF138,ZNF138,ZNF138,ZNF138,ZNF138,ZNF138,ZNF138,ZNF138 EXON Nonsense_R160X,Nonsense_R13X,Silent,Silent,Nonsense_R128X,Silent,Silent,Silent,Nonsense_R134X exm623296 7 64292180 [A/G] NM_001271639,NM_001271649,NR_073391,NM_001271637,NM_001271638,NR_073389,NM_001271640,NM_001160183,NM_006524 ZNF138,ZNF138,ZNF138,ZNF138,ZNF138,ZNF138,ZNF138,ZNF138,ZNF138 EXON Missense_K187R,Missense_K40R,Silent,Silent,Missense_K155R,Silent,Silent,Silent,Missense_K161R exm623298 7 64292214 [A/T] NM_001271639,NM_001271649,NR_073391,NM_001271637,NM_001271638,NR_073389,NM_001271640,NM_001160183,NM_006524 ZNF138,ZNF138,ZNF138,ZNF138,ZNF138,ZNF138,ZNF138,ZNF138,ZNF138 EXON Missense_E198D,Missense_E51D,Silent,Silent,Missense_E166D,Silent,Silent,Silent,Missense_E172D exm623327 7 64363742 [A/C] NR_003099,NM_021148 ZNF273,ZNF273 EXON Silent,Missense_A16E exm2264240 7 64364381 [A/C] NR_003099,NM_021148 ZNF273,ZNF273 Silent,Silent exm623348 7 64388350 [A/G] NR_003099,NM_021148 ZNF273,ZNF273 EXON Silent,Missense_C215Y exm623361 7 64388629 [A/G] NR_003099,NM_021148 ZNF273,ZNF273 EXON Silent,Missense_H308R exm623389 7 64389089 [A/C] NR_003099,NM_021148 ZNF273,ZNF273 EXON Silent,Missense_E461D exm2152790 7 64438635 [A/C] NM_015852 ZNF117 EXON Missense_I438M exm623438 7 64439216 [T/C] NM_015852 ZNF117 EXON Missense_G245R exm623451 7 64439605 [T/C] NM_015852 ZNF117 EXON Missense_R115H exm623460 7 64439785 [G/C] NM_015852 ZNF117 EXON Missense_S55T exm623469 7 64451646 [T/C] NM_001007253 ERV3-1 EXON Missense_I587V exm623470 7 64451649 [A/C] NM_001007253 ERV3-1 EXON Nonsense_E586X exm623473 7 64451699 [T/C] NM_001007253 ERV3-1 EXON Missense_N569S exm623475 7 64451709 [T/C] NM_001007253 ERV3-1 EXON Missense_G566R exm2152805 7 64451791 [G/C] NM_001007253 ERV3-1 EXON Missense_Q538H exm623486 7 64451963 [T/C] NM_001007253 ERV3-1 EXON Missense_N481S exm623491 7 64452074 [T/G] NM_001007253 ERV3-1 EXON Missense_P444Q exm623492 7 64452077 [A/C] NM_001007253 ERV3-1 EXON Missense_R443M exm623493 7 64452081 [T/C] NM_001007253 ERV3-1 EXON Missense_I442V exm623496 7 64452104 [G/C] NM_001007253 ERV3-1 EXON Nonsense_S434X exm623518 7 64452458 [T/G] NM_001007253 ERV3-1 EXON Missense_N316T exm623525 7 64452554 [A/G] NM_001007253 ERV3-1 EXON Missense_A284V exm623526 7 64452571 [T/G] NM_001007253 ERV3-1 EXON Missense_Q278H exm623527 7 64452576 [T/C] NM_001007253 ERV3-1 EXON Missense_A277T exm623534 7 64452698 [T/C] NM_001007253 ERV3-1 EXON Missense_Y236C exm623536 7 64452738 [A/G] NM_001007253 ERV3-1 EXON Nonsense_R223X exm623541 7 64452830 [T/C] NM_001007253 ERV3-1 EXON Missense_C192Y exm623547 7 64452906 [C/G] NM_001007253 ERV3-1 EXON Missense_D167H exm623548 7 64452929 [A/T] NM_001007253 ERV3-1 EXON Missense_D159V exm623555 7 64453020 [A/T] NM_001007253 ERV3-1 EXON Missense_M129L exm623557 7 64453085 [A/G] NM_001007253 ERV3-1 EXON Missense_T107I exm623559 7 64453116 [T/C] NM_001007253 ERV3-1 EXON Missense_G97R exm623562 7 64453136 [A/G] NM_001007253 ERV3-1 EXON Missense_T90I exm623576 7 64453387 [T/C] NM_001007253 ERV3-1 EXON Missense_M6I exm623577 7 64453403 [T/A] NM_001007253 ERV3-1 EXON Missense_M1K exm2270624 7 64767457 [T/C] exm623595 7 64863392 [T/C] NM_152626,NM_007139 ZNF92,ZNF92 EXON Missense_A122V,Missense_A53V exm623598 7 64863472 [A/C] NM_152626,NM_007139 ZNF92,ZNF92 EXON Missense_K149Q,Missense_K80Q exm623646 7 64864736 [A/G] NM_152626,NM_007139 ZNF92,ZNF92 EXON Missense_G570D,Missense_G501D exm623677 7 65425894 [A/G] NM_000181 GUSB EXON Missense_L649P exm623706 7 65439382 [T/C] NM_000181 GUSB EXON Missense_E431K exm623717 7 65439610 [T/G] NM_000181 GUSB EXON Missense_T383P exm623737 7 65441154 [T/G] NM_000181 GUSB EXON Missense_N254H exm623739 7 65444415 [G/C] NM_000181 GUSB EXON Missense_T232S exm623749 7 65444769 [A/G] NM_000181 GUSB EXON Missense_L176F exm623783 7 65546812 [A/G] NM_000048,NM_001024946,NM_001024943,NM_001024944 ASL,ASL,ASL,ASL EXON Missense_R12Q,Missense_R12Q,Missense_R12Q,Missense_R12Q exm623786 7 65546876 [C/G] NM_000048,NM_001024946,NM_001024943,NM_001024944 ASL,ASL,ASL,ASL EXON Missense_H33Q,Missense_H33Q,Missense_H33Q,Missense_H33Q exm623795 7 65547389 [T/C] NM_000048,NM_001024946,NM_001024943,NM_001024944 ASL,ASL,ASL,ASL EXON Missense_L81P,Missense_L81P,Missense_L81P,Missense_L81P exm2275230 7 65547439 [T/G] NM_000048,NM_001024946,NM_001024943,NM_001024944 ASL,ASL,ASL,ASL Silent,Silent,Silent,Silent exm623800 7 65547874 [T/C] NM_000048,NM_001024946,NM_001024943,NM_001024944 ASL,ASL,ASL,ASL EXON Missense_I100T,Missense_I100T,Missense_I100T,Missense_I100T exm623809 7 65548107 [T/C] NM_000048,NM_001024946,NM_001024943,NM_001024944 ASL,ASL,ASL,ASL EXON Missense_T131M,Missense_T131M,Missense_T131M,Missense_T131M exm623813 7 65548116 [A/G] NM_000048,NM_001024946,NM_001024943,NM_001024944 ASL,ASL,ASL,ASL EXON Missense_G134D,Missense_G134D,Missense_G134D,Missense_G134D exm623817 7 65551738 [A/G] NM_000048,NM_001024946,NM_001024943,NM_001024944 ASL,ASL,ASL,ASL EXON Missense_V178M,Silent,Missense_V178M,Missense_V178M exm623820 7 65551777 [T/C] NM_000048,NM_001024946,NM_001024943,NM_001024944 ASL,ASL,ASL,ASL EXON Missense_R191W,Silent,Missense_R191W,Missense_R191W exm623843 7 65554101 [A/G] NM_000048,NM_001024946,NM_001024943,NM_001024944 ASL,ASL,ASL,ASL EXON Missense_Q286R,Missense_Q260R,Missense_Q286R,Missense_Q286R exm623860 7 65557065 [T/C] NM_000048,NM_001024946,NM_001024943,NM_001024944 ASL,ASL,ASL,ASL EXON Missense_R379C,Missense_R353C,Missense_R379C,Missense_R359C exm623864 7 65557569 [T/C] NM_000048,NM_001024946,NM_001024943,NM_001024944 ASL,ASL,ASL,ASL EXON Missense_A390V,Missense_A364V,Missense_A390V,Missense_A370V exm623894 7 65599361 [A/T] NM_014478,NR_024548,NM_001040648,NM_001142414,NM_001040647 CRCP,CRCP,CRCP,CRCP,CRCP EXON Missense_K80I,Silent,Silent,Missense_K73I,Missense_K47I exm623907 7 65617235 [T/C] NM_014478,NR_024548,NM_001040648,NM_001142414,NM_001040647 CRCP,CRCP,CRCP,CRCP,CRCP EXON Missense_I113T,Silent,Missense_I36T,Missense_I106T,Missense_I80T exm623908 7 65617261 [A/G] NM_014478,NR_024548,NM_001040648,NM_001142414,NM_001040647 CRCP,CRCP,CRCP,CRCP,CRCP EXON Missense_S122G,Silent,Missense_S45G,Missense_S115G,Missense_S89G exm623910 7 65617327 [A/G] NM_014478,NR_024548,NM_001040648,NM_001142414,NM_001040647 CRCP,CRCP,CRCP,CRCP,CRCP EXON Missense_E144K,Silent,Missense_E67K,Missense_E137K,Missense_E111K exm-rs875971 7 65617595 [T/C] NM_014478,NR_024548,NM_001040648,NM_001142414,NM_001040647 CRCP,CRCP,CRCP,CRCP,CRCP EXON Silent,Silent,Silent,Silent,Silent exm623920 7 65705525 [A/G] NM_003596 TPST1 EXON Missense_R38H exm2245824 7 65705693 [A/G] NM_003596 TPST1 EXON Missense_D94G exm623936 7 65705936 [T/C] NM_003596 TPST1 EXON Missense_P175L exm623946 7 65706155 [A/G] NM_003596 TPST1 EXON Missense_R248Q exm2266420 7 65734783 [A/G] NM_003596 TPST1 Silent exm623954 7 65751580 [A/G] NM_003596 TPST1 EXON Missense_V310I exm2264241 7 65938980 [A/C] exm-rs801193 7 66030612 [T/G] NR_002933 LOC493754 Silent exm-rs10263935 7 66096028 [A/G] NM_153033,NM_001167961 KCTD7,KCTD7 Silent,Silent exm624025 7 66098310 [T/C] NM_153033,NM_001167961 KCTD7,KCTD7 EXON Missense_R65C,Missense_R65C exm624028 7 66098373 [T/C] NM_153033,NM_001167961 KCTD7,KCTD7 EXON Missense_Y86H,Missense_Y86H exm624035 7 66103286 [T/C] NM_153033,NM_001167961 KCTD7,KCTD7 EXON Missense_R121C,Missense_R121C exm2153053 7 66104142 [A/G] NM_153033,NM_001167961 KCTD7,KCTD7 EXON Missense_G265R,Missense_G265R exm2270760 7 66213108 [T/C] NM_014504 RABGEF1 Silent exm624099 7 66270205 [A/G] NM_014504 RABGEF1 EXON Missense_N300S exm624108 7 66274027 [A/G] NM_014504 RABGEF1 EXON Missense_Y411C exm624112 7 66274086 [T/G] NM_014504 RABGEF1 EXON Missense_A431S exm624113 7 66274087 [T/C] NM_014504 RABGEF1 EXON Missense_A431V exm624118 7 66274192 [T/C] NM_014504 RABGEF1 EXON Missense_P466L exm2245834 7 66410231 [A/G] NM_017994 TMEM248 EXON Missense_H143R exm624143 7 66413599 [A/G] NM_017994 TMEM248 EXON Missense_A172T exm2245836 7 66453413 [T/G] NM_016038 SBDS EXON Missense_S233Y exm624166 7 66453476 [A/G] NM_016038 SBDS EXON Missense_I212T exm624170 7 66458275 [T/C] NM_016038 SBDS EXON Missense_V130M exm624190 7 66463178 [T/C] NM_018264 TYW1 EXON Missense_T44M exm2245841 7 66463873 [T/C] NM_018264 TYW1 EXON Missense_L69F exm2153178 7 66474576 [A/G] NM_018264 TYW1 EXON Missense_A94T exm624228 7 66483114 [A/G] NM_018264 TYW1 EXON Missense_H282R exm624246 7 66548448 [T/C] NM_018264 TYW1 EXON Missense_R436W exm624249 7 66548457 [T/A] NM_018264 TYW1 EXON Missense_M439L exm2275945 7 66773926 [C/G] NR_040585,NR_040586 STAG3L4,STAG3L4 EXON Silent,Silent exm624306 7 66773937 [C/G] NR_040585,NR_040586 STAG3L4,STAG3L4 EXON Silent,Silent exm624307 7 66774013 [A/G] NR_040585,NR_040586 STAG3L4,STAG3L4 EXON Silent,Silent exm624308 7 66774048 [A/G] NR_040585,NR_040586 STAG3L4,STAG3L4 EXON Silent,Silent exm2266421 7 67018692 [A/G] exm-rs10263639 7 67059267 [T/C] exm2266528 7 67321234 [A/G] exm2270626 7 67387658 [T/C] exm-rs6961611 7 67426323 [T/C] exm2266422 7 68066373 [A/G] exm-rs6972020 7 68182022 [T/A] exm2270627 7 68225416 [T/C] exm2264264 7 68544052 [A/C] exm2262346 7 68860360 [A/G] exm2270628 7 68905738 [T/C] exm2266423 7 69006876 [A/G] exm624333 7 69364311 [T/C] NM_001127231,NM_001127232,NM_015570 AUTS2,AUTS2,AUTS2 EXON Missense_R117C,Missense_R117C,Missense_R117C exm624335 7 69364347 [G/C] NM_001127231,NM_001127232,NM_015570 AUTS2,AUTS2,AUTS2 EXON Missense_L129V,Missense_L129V,Missense_L129V exm624344 7 69583176 [T/C] NM_001127231,NM_001127232,NM_015570 AUTS2,AUTS2,AUTS2 EXON Missense_S194F,Missense_S194F,Missense_S194F exm624346 7 69583206 [A/G] NM_001127231,NM_001127232,NM_015570 AUTS2,AUTS2,AUTS2 EXON Missense_E204G,Missense_E204G,Missense_E204G exm-rs6943555 7 69806023 [T/A] NM_001127231,NM_015570 AUTS2,AUTS2 Silent,Silent exm2266530 7 69867401 [A/G] NM_001127231,NM_015570 AUTS2,AUTS2 Silent,Silent exm2270629 7 70097525 [T/C] NM_001127231,NM_015570 AUTS2,AUTS2 Silent,Silent exm624356 7 70227978 [A/G] NM_001127231,NM_015570 AUTS2,AUTS2 EXON Missense_I289V,Missense_I289V exm624358 7 70228020 [T/G] NM_001127231,NM_015570 AUTS2,AUTS2 EXON Missense_A303S,Missense_A303S exm624372 7 70228275 [T/C] NM_001127231,NM_015570 AUTS2,AUTS2 EXON Missense_S388P,Missense_S388P exm624375 7 70229770 [A/G] NM_001127231,NM_015570 AUTS2,AUTS2 EXON Missense_Q416R,Missense_Q416R exm624404 7 70236577 [A/G] NM_001127231,NM_015570 AUTS2,AUTS2 EXON Missense_M593V,Missense_M593V exm624410 7 70239081 [T/C] NM_001127231,NM_015570 AUTS2,AUTS2 EXON Silent,Missense_P633L exm624422 7 70246664 [T/C] NM_001127231,NM_015570 AUTS2,AUTS2 EXON Missense_P666S,Missense_P690S exm2153361 7 70254755 [C/G] NM_001127231,NM_015570 AUTS2,AUTS2 EXON Missense_H827Q,Missense_H851Q exm624454 7 70254801 [A/G] NM_001127231,NM_015570 AUTS2,AUTS2 EXON Missense_G843R,Missense_G867R exm2153363 7 70254855 [C/G] NM_001127231,NM_015570 AUTS2,AUTS2 EXON Missense_R861G,Missense_R885G exm624458 7 70254904 [A/G] NM_001127231,NM_015570 AUTS2,AUTS2 EXON Missense_R877H,Missense_R901H exm624492 7 70255639 [T/G] NM_001127231,NM_015570 AUTS2,AUTS2 EXON Missense_G1122V,Missense_G1146V exm624510 7 70255956 [A/G] NM_001127231,NM_015570 AUTS2,AUTS2 EXON Missense_T1228A,Missense_T1252A exm624513 7 70255978 [A/G] NM_001127231,NM_015570 AUTS2,AUTS2 EXON Missense_R1235Q,Missense_R1259Q exm624520 7 70597963 [A/G] NM_022479 WBSCR17 EXON Missense_I59V exm624521 7 70597970 [A/G] NM_022479 WBSCR17 EXON Missense_D61G exm2262349 7 70649789 [A/G] NM_022479 WBSCR17 Silent exm2266425 7 70736168 [A/G] NM_022479 WBSCR17 Silent exm2275946 7 70800577 [C/G] NM_022479 WBSCR17 EXON Missense_R94G exm624530 7 70800578 [A/G] NM_022479 WBSCR17 EXON Missense_R94Q exm624533 7 70800596 [T/C] NM_022479 WBSCR17 EXON Missense_P100L exm624538 7 70800657 [A/C] NM_022479 WBSCR17 EXON Nonsense_Y120X exm624548 7 70853324 [A/G] NM_022479 WBSCR17 EXON Missense_V176I exm624560 7 70880998 [C/G] NM_022479 WBSCR17 EXON Missense_T238S exm2153401 7 70885935 [A/G] NM_022479 WBSCR17 EXON Missense_R269H exm2266532 7 71138528 [A/G] NM_022479 WBSCR17 Silent exm2258435 7 71152622 [A/G] NM_022479 WBSCR17 Silent exm624598 7 71175869 [A/G] NM_022479 WBSCR17 EXON Missense_D542N exm624599 7 71175875 [A/G] NM_022479 WBSCR17 EXON Missense_V544I exm624616 7 71252855 [T/C] NM_031468,NM_001017440 CALN1,CALN1 EXON Missense_V231I,Missense_V189I exm624619 7 71275350 [A/G] NM_031468,NM_001017440 CALN1,CALN1 EXON Missense_S210L,Missense_S168L exm624629 7 71571137 [A/G] NM_031468,NM_001017440 CALN1,CALN1 EXON Synonymous_D129D,Synonymous_D87D exm2258436 7 71743765 [A/G] NM_031468,NM_001017440 CALN1,CALN1 EXON Synonymous_A50A,Synonymous_A8A exm2258437 7 71881828 [T/C] exm2266533 7 71940548 [A/G] exm624676 7 72093938 [A/G] NM_001145441,NM_001145440 TYW1B,TYW1B EXON Synonymous_N355N,Synonymous_N517N exm624692 7 72159806 [A/G] NM_001145441,NM_001145440 TYW1B,TYW1B EXON Synonymous_L297L,Synonymous_L459L exm624701 7 72193854 [T/G] NM_001145441,NM_001145440 TYW1B,TYW1B EXON Missense_D214E,Missense_D376E exm624704 7 72193868 [A/G] NM_001145441,NM_001145440 TYW1B,TYW1B EXON Missense_R210W,Missense_R372W exm2270631 7 72225895 [T/C] NM_001145441,NM_001145440 TYW1B,TYW1B Silent,Silent exm2245864 7 72286051 [T/C] NM_001145441,NM_001145440 TYW1B,TYW1B EXON Missense_T49A,Missense_T49A exm624725 7 72297442 [T/C] NM_001145441,NM_001145440 TYW1B,TYW1B EXON Missense_E43K,Missense_E43K exm624726 7 72297490 [T/C] NM_001145441,NM_001145440 TYW1B,TYW1B EXON Missense_G27S,Missense_G27S exm624727 7 72297549 [A/G] NM_001145441,NM_001145440 TYW1B,TYW1B EXON Missense_T7I,Missense_T7I exm2275947 7 72413683 [A/G] NM_001257190,NM_172020 POM121,POM121 EXON Missense_A786T,Missense_A786T exm625050 7 72718278 [A/G] NM_001168348,NM_148956,NM_001168347,NM_018044 NSUN5,NSUN5,NSUN5,NSUN5 EXON Missense_R257C,Missense_R295C,Missense_R295C,Missense_R295C exm625071 7 72721400 [T/C] NM_001168348,NM_148956,NM_001168347,NM_018044 NSUN5,NSUN5,NSUN5,NSUN5 EXON Missense_R126Q,Missense_R164Q,Missense_R164Q,Missense_R164Q exm625072 7 72721419 [G/C] NM_001168348,NM_148956,NM_001168347,NM_018044 NSUN5,NSUN5,NSUN5,NSUN5 EXON Missense_G120R,Missense_G158R,Missense_G158R,Missense_G158R exm625073 7 72721449 [T/C] NM_001168348,NM_148956,NM_001168347,NM_018044 NSUN5,NSUN5,NSUN5,NSUN5 EXON Missense_D110N,Missense_D148N,Missense_D148N,Missense_D148N exm625115 7 72727111 [A/C] NM_178125 TRIM50 EXON Nonsense_E424X exm625128 7 72727296 [T/C] NM_178125 TRIM50 EXON Missense_R362H exm625137 7 72727435 [T/C] NM_178125 TRIM50 EXON Missense_V316M exm625145 7 72730654 [T/C] NM_178125 TRIM50 EXON Missense_A262T exm2245876 7 72730668 [T/C] NM_178125 TRIM50 EXON Missense_R257Q exm625146 7 72730669 [A/G] NM_178125 TRIM50 EXON Missense_R257W exm625173 7 72734201 [T/C] NM_178125 TRIM50 EXON Missense_Q147R exm625198 7 72738632 [A/G] NM_178125 TRIM50 EXON Missense_R52C exm2153594 7 72738675 [A/C] NM_178125 TRIM50 EXON Missense_K37N exm625203 7 72738701 [C/G] NM_178125 TRIM50 EXON Missense_L29V exm625228 7 72744321 [C/G] NM_001135211,NM_003602 FKBP6,FKBP6 EXON Missense_C140S,Missense_C145S exm625232 7 72745715 [A/G] NM_001135211,NM_003602 FKBP6,FKBP6 EXON Missense_R170Q,Missense_R175Q exm625235 7 72745738 [T/C] NM_001135211,NM_003602 FKBP6,FKBP6 EXON Missense_R178C,Missense_R183C exm625237 7 72745748 [A/G] NM_001135211,NM_003602 FKBP6,FKBP6 EXON Missense_R181H,Missense_R186H exm625241 7 72754656 [A/G] NM_001135211,NM_003602 FKBP6,FKBP6 EXON Missense_R197H,Missense_R202H exm625248 7 72755347 [A/C] NM_001135211,NM_003602 FKBP6,FKBP6 EXON Missense_H282N,Missense_H287N exm625252 7 72756809 [A/G] NM_001135211,NM_003602 FKBP6,FKBP6 EXON Missense_C294Y,Missense_C299Y exm625253 7 72756845 [C/G] NM_001135211,NM_003602 FKBP6,FKBP6 EXON Missense_W306S,Missense_W311S exm2266534 7 72825125 [A/G] exm2258440 7 72848460 [T/G] NM_003508 FZD9 EXON Synonymous_A41A exm625260 7 72848585 [G/C] NM_003508 FZD9 EXON Missense_G83A exm-rs2240466 7 72856269 [A/G] NM_032408 BAZ1B Silent exm-rs1178979 7 72856430 [T/C] NM_032408 BAZ1B Silent exm625329 7 72857130 [T/C] NM_032408 BAZ1B EXON Missense_R1340K exm625330 7 72857133 [T/C] NM_032408 BAZ1B EXON Missense_R1339Q exm2153641 7 72858385 [T/C] NM_032408 BAZ1B EXON Missense_K1307E exm625369 7 72880650 [A/G] NM_032408 BAZ1B EXON Missense_T983I exm625372 7 72883898 [A/G] NM_032408 BAZ1B EXON Missense_H939Y exm625373 7 72883900 [T/C] NM_032408 BAZ1B EXON Missense_N938S exm625391 7 72891657 [T/C] NM_032408 BAZ1B EXON Missense_D712N exm625404 7 72892269 [T/C] NM_032408 BAZ1B EXON Missense_S508G exm2153667 7 72892517 [T/C] NM_032408 BAZ1B EXON Missense_K425R exm625426 7 72903700 [A/C] NM_032408 BAZ1B EXON Missense_D239Y exm-rs17145713 7 72904810 [T/C] NM_032408 BAZ1B Silent exm625430 7 72912830 [A/T] NM_032408 BAZ1B EXON Missense_I190F exm625432 7 72912892 [A/G] NM_032408 BAZ1B EXON Missense_I169T exm625452 7 72952268 [A/G] NR_036682,NM_001197244,NM_001707 BCL7B,BCL7B,BCL7B EXON Silent,Missense_T114I,Missense_T171I exm-rs17145738 7 72982874 [T/C] exm625487 7 72985024 [T/C] NM_012453 TBL2 EXON Missense_R386H exm625489 7 72985073 [A/G] NM_012453 TBL2 EXON Missense_R370W exm625494 7 72985148 [T/C] NM_012453 TBL2 EXON Missense_V345I exm625500 7 72985208 [A/G] NM_012453 TBL2 EXON Missense_R325C exm625507 7 72985522 [T/C] NM_012453 TBL2 EXON Missense_R292Q exm625514 7 72985627 [T/G] NM_012453 TBL2 EXON Missense_E257A exm625522 7 72987226 [T/C] NM_012453 TBL2 EXON Missense_I225V exm2258441 7 72987681 [T/C] NM_012453 TBL2 EXON Synonymous_A189A exm625545 7 72988736 [A/G] NM_012453 TBL2 EXON Missense_R80C exm625562 7 72992858 [C/G] NM_012453 TBL2 EXON Missense_E8Q exm625564 7 72992867 [C/G] NM_012453 TBL2 EXON Missense_Q5E exm625571 7 73008233 [A/G] NM_032954,NM_032953,NM_032952,NM_032951 MLXIPL,MLXIPL,MLXIPL,MLXIPL EXON Missense_R820W,Missense_R839W,Missense_R822W,Missense_R841W exm625580 7 73010005 [T/C] NM_032954,NM_032953,NM_032952,NM_032951 MLXIPL,MLXIPL,MLXIPL,MLXIPL EXON Missense_V737I,Missense_V756I,Missense_V739I,Missense_V758I exm625582 7 73010191 [T/C] NM_032954,NM_032953,NM_032952,NM_032951 MLXIPL,MLXIPL,MLXIPL,MLXIPL EXON Missense_E702K,Missense_E721K,Missense_E704K,Missense_E723K exm2245888 7 73010599 [T/C] NM_032954,NM_032953,NM_032952,NM_032951 MLXIPL,MLXIPL,MLXIPL,MLXIPL EXON Silent,Silent,Missense_E648K,Missense_E648K exm625600 7 73010750 [T/C] NM_032954,NM_032953,NM_032952,NM_032951 MLXIPL,MLXIPL,MLXIPL,MLXIPL EXON Missense_V628I,Missense_V628I,Missense_V628I,Missense_V628I exm2153739 7 73010978 [A/C] NM_032954,NM_032953,NM_032952,NM_032951 MLXIPL,MLXIPL,MLXIPL,MLXIPL EXON Missense_A605S,Missense_A605S,Missense_A605S,Missense_A605S exm625605 7 73011028 [A/G] NM_032954,NM_032953,NM_032952,NM_032951 MLXIPL,MLXIPL,MLXIPL,MLXIPL EXON Missense_A588V,Missense_A588V,Missense_A588V,Missense_A588V exm625611 7 73011079 [A/G] NM_032954,NM_032953,NM_032952,NM_032951 MLXIPL,MLXIPL,MLXIPL,MLXIPL EXON Missense_P571L,Missense_P571L,Missense_P571L,Missense_P571L exm625619 7 73011212 [A/G] NM_032954,NM_032953,NM_032952,NM_032951 MLXIPL,MLXIPL,MLXIPL,MLXIPL EXON Missense_R552W,Missense_R552W,Missense_R552W,Missense_R552W exm625625 7 73011550 [T/C] NM_032954,NM_032953,NM_032952,NM_032951 MLXIPL,MLXIPL,MLXIPL,MLXIPL EXON Missense_G522E,Missense_G522E,Missense_G522E,Missense_G522E exm625645 7 73011987 [T/G] NM_032954,NM_032953,NM_032952,NM_032951 MLXIPL,MLXIPL,MLXIPL,MLXIPL EXON Missense_F376L,Missense_F376L,Missense_F376L,Missense_F376L exm625652 7 73012042 [A/G] NM_032954,NM_032953,NM_032952,NM_032951 MLXIPL,MLXIPL,MLXIPL,MLXIPL EXON Missense_A358V,Missense_A358V,Missense_A358V,Missense_A358V exm625665 7 73013995 [A/G] NM_032954,NM_032953,NM_032952,NM_032951 MLXIPL,MLXIPL,MLXIPL,MLXIPL EXON Missense_P311L,Missense_P311L,Missense_P311L,Missense_P311L exm625672 7 73020045 [T/G] NM_032954,NM_032953,NM_032952,NM_032951 MLXIPL,MLXIPL,MLXIPL,MLXIPL EXON Missense_S292R,Missense_S292R,Missense_S292R,Missense_S292R exm625680 7 73020269 [T/G] NM_032954,NM_032953,NM_032952,NM_032951 MLXIPL,MLXIPL,MLXIPL,MLXIPL EXON Missense_P264H,Missense_P264H,Missense_P264H,Missense_P264H exm625684 7 73020328 [T/G] NM_032954,NM_032953,NM_032952,NM_032951 MLXIPL,MLXIPL,MLXIPL,MLXIPL EXON Missense_D244E,Missense_D244E,Missense_D244E,Missense_D244E exm625685 7 73020337 [G/C] NM_032954,NM_032953,NM_032952,NM_032951 MLXIPL,MLXIPL,MLXIPL,MLXIPL EXON Missense_Q241H,Missense_Q241H,Missense_Q241H,Missense_Q241H exm625714 7 73038636 [A/G] NM_032954,NM_032953,NM_032952,NM_032951 MLXIPL,MLXIPL,MLXIPL,MLXIPL EXON Missense_P63S,Missense_P63S,Missense_P63S,Missense_P63S exm625758 7 73097221 [T/C] NM_032317 DNAJC30 EXON Missense_R178Q exm625778 7 73097555 [T/C] NM_032317 DNAJC30 EXON Missense_A67T exm625780 7 73097602 [T/C] NM_032317 DNAJC30 EXON Missense_Y51C exm625784 7 73097654 [T/C] NM_032317 DNAJC30 EXON Missense_G34R exm2245893 7 73097701 [A/G] NM_032317 DNAJC30 EXON Missense_L18P exm625787 7 73097713 [A/G] NM_032317 DNAJC30 EXON Missense_P14L exm625789 7 73097720 [C/G] NM_032317 DNAJC30 EXON Missense_L12V exm625795 7 73098119 [A/G] NM_017528,NR_045512,NR_037776,NM_001202560 WBSCR22,WBSCR22,WBSCR22,WBSCR22 EXON Missense_R24Q,Silent,Silent,Missense_R24Q exm625799 7 73100975 [A/G] NM_017528,NR_045512,NR_037776,NM_001202560 WBSCR22,WBSCR22,WBSCR22,WBSCR22 EXON Missense_M32I,Silent,Silent,Missense_M32I exm625810 7 73101409 [T/A] NM_017528,NR_045512,NR_037776,NM_001202560 WBSCR22,WBSCR22,WBSCR22,WBSCR22 EXON Missense_F116I,Silent,Silent,Missense_F116I exm2153808 7 73106930 [A/G] NM_017528,NR_045512,NR_037776,NM_001202560 WBSCR22,WBSCR22,WBSCR22,WBSCR22 EXON Missense_R155Q,Silent,Silent,Missense_R155Q exm625846 7 73112172 [C/G] NM_017528,NR_045512,NR_037776,NM_001202560 WBSCR22,WBSCR22,WBSCR22,WBSCR22 EXON Missense_P268A,Silent,Silent,Missense_P285A exm625860 7 73115120 [A/G] NM_001165903,NM_004603 STX1A,STX1A EXON Missense_M228T,Synonymous_Y243Y exm625885 7 73119522 [T/C] NM_001165903,NM_004603 STX1A,STX1A EXON Missense_D81N,Missense_D81N exm625926 7 73151433 [A/G] NM_001145364,NR_026910,NM_148913,NM_148912,NR_026912 ABHD11,ABHD11,ABHD11,ABHD11,ABHD11 EXON Missense_A157V,Silent,Missense_A207V,Missense_A214V,Silent exm625936 7 73151643 [T/C] NM_001145364,NR_026910,NM_148913,NM_148912,NR_026912 ABHD11,ABHD11,ABHD11,ABHD11,ABHD11 EXON Silent,Silent,Missense_V174M,Missense_V181M,Silent exm625939 7 73151706 [A/G] NM_001145364,NR_026910,NM_148913,NM_148912,NR_026912 ABHD11,ABHD11,ABHD11,ABHD11,ABHD11 EXON Silent,Silent,Missense_R153C,Missense_R160C,Silent exm625948 7 73152033 [G/C] NM_001145364,NR_026910,NM_148913,NM_148912,NR_026912 ABHD11,ABHD11,ABHD11,ABHD11,ABHD11 EXON Missense_D107E,Silent,Missense_D100E,Missense_D107E,Silent exm2258443 7 73183768 [T/G] NM_001306 CLDN3 EXON Synonymous_T204T exm625990 7 73183979 [A/G] NM_001306 CLDN3 EXON Missense_P134L exm2153876 7 73184091 [A/C] NM_001306 CLDN3 EXON Missense_A97S exm625998 7 73184318 [A/G] NM_001306 CLDN3 EXON Missense_I21T exm625999 7 73184319 [T/C] NM_001306 CLDN3 EXON Missense_I21V exm626010 7 73245592 [A/G] NM_001305 CLDN4 EXON Missense_V21I exm2153883 7 73245622 [T/C] NM_001305 CLDN4 EXON Missense_R31C exm2258445 7 73245639 [T/C] NM_001305 CLDN4 EXON Synonymous_I36I exm2153885 7 73245868 [A/G] NM_001305 CLDN4 EXON Missense_A113T exm626026 7 73245898 [A/G] NM_001305 CLDN4 EXON Missense_V123M exm626034 7 73246063 [A/G] NM_001305 CLDN4 EXON Missense_G178R exm626041 7 73249092 [T/C] NM_152559 WBSCR27 EXON Missense_R240Q exm626044 7 73249125 [A/G] NM_152559 WBSCR27 EXON Missense_P229L exm626046 7 73249155 [A/G] NM_152559 WBSCR27 EXON Missense_P219L exm626048 7 73249165 [A/T] NM_152559 WBSCR27 EXON Missense_R216W exm626050 7 73249173 [A/G] NM_152559 WBSCR27 EXON Missense_P213L exm626054 7 73249213 [T/G] NM_152559 WBSCR27 EXON Missense_P200T exm626055 7 73249299 [G/C] NM_152559 WBSCR27 EXON Missense_S171W exm626057 7 73249330 [T/C] NM_152559 WBSCR27 EXON Missense_G161R exm626059 7 73254390 [A/G] NM_152559 WBSCR27 EXON Missense_A150V exm626062 7 73254442 [T/C] NM_152559 WBSCR27 EXON Missense_D133N exm626072 7 73254812 [T/C] NM_152559 WBSCR27 EXON Missense_Q107R exm626083 7 73255432 [T/C] NM_152559 WBSCR27 EXON Missense_V74M exm626090 7 73256364 [A/G] NM_152559 WBSCR27 EXON Missense_A36V exm626098 7 73275565 [A/T] NM_182504 WBSCR28 EXON Missense_I14N exm626101 7 73279343 [A/C] NM_182504 WBSCR28 EXON Missense_H31Q exm626105 7 73279405 [A/G] NM_182504 WBSCR28 EXON Missense_Q52R exm626106 7 73279413 [T/C] NM_182504 WBSCR28 EXON Missense_R55W exm626111 7 73279482 [T/C] NM_182504 WBSCR28 EXON Missense_W78R exm626112 7 73279483 [A/G] NM_182504 WBSCR28 EXON Nonsense_W78X exm626113 7 73279484 [A/G] NM_182504 WBSCR28 EXON Nonsense_W78X exm626119 7 73279659 [A/G] NM_182504 WBSCR28 EXON Missense_G137S exm626127 7 73279955 [T/C] NM_182504 WBSCR28 EXON Missense_R184C exm626137 7 73280111 [A/G] NM_182504 WBSCR28 EXON Missense_V236I exm626138 7 73280145 [T/C] NM_182504 WBSCR28 EXON Missense_A247V exm2258446 7 73280152 [A/G] NM_182504 WBSCR28 EXON Synonymous_S249S exm2266535 7 73359124 [A/G] exm626179 7 73450896 [A/G] NM_000501,NM_001081754,NM_001081752,NM_001081755,NM_001081753 ELN,ELN,ELN,ELN,ELN EXON Missense_G49R,Missense_G49R,Silent,Missense_G49R,Missense_G49R exm626186 7 73455561 [T/C] NM_000501,NM_001081754,NM_001081752,NM_001081755,NM_001081753 ELN,ELN,ELN,ELN,ELN EXON Missense_A71V,Missense_A71V,Missense_A61V,Missense_A71V,Missense_A71V exm626190 7 73456970 [T/C] NM_000501,NM_001081754,NM_001081752,NM_001081755,NM_001081753 ELN,ELN,ELN,ELN,ELN EXON Missense_F87L,Missense_F87L,Missense_F77L,Missense_F87L,Missense_F87L exm626196 7 73457314 [A/G] NM_000501,NM_001081754,NM_001081752,NM_001081755,NM_001081753 ELN,ELN,ELN,ELN,ELN EXON Missense_G109D,Missense_G109D,Missense_G99D,Missense_G109D,Missense_G109D exm626197 7 73457316 [A/G] NM_000501,NM_001081754,NM_001081752,NM_001081755,NM_001081753 ELN,ELN,ELN,ELN,ELN EXON Missense_A110T,Missense_A110T,Missense_A100T,Missense_A110T,Missense_A110T exm626210 7 73458241 [A/G] NM_000501,NM_001081754,NM_001081752,NM_001081755,NM_001081753 ELN,ELN,ELN,ELN,ELN EXON Missense_V154M,Missense_V159M,Missense_V144M,Missense_V154M,Missense_V159M exm626213 7 73459555 [T/C] NM_000501,NM_001081754,NM_001081752,NM_001081755,NM_001081753 ELN,ELN,ELN,ELN,ELN EXON Missense_A158V,Missense_A163V,Missense_A148V,Missense_A158V,Missense_A163V exm626216 7 73459575 [T/G] NM_000501,NM_001081754,NM_001081752,NM_001081755,NM_001081753 ELN,ELN,ELN,ELN,ELN EXON Missense_V165L,Missense_V170L,Missense_V155L,Missense_V165L,Missense_V170L exm626225 7 73462008 [T/G] NM_000501,NM_001081754,NM_001081752,NM_001081755,NM_001081753 ELN,ELN,ELN,ELN,ELN EXON Missense_G216V,Missense_G221V,Missense_G206V,Missense_G216V,Missense_G221V exm626234 7 73462886 [A/G] NM_000501,NM_001081754,NM_001081752,NM_001081755,NM_001081753 ELN,ELN,ELN,ELN,ELN EXON Missense_G267S,Missense_G272S,Missense_G257S,Missense_G267S,Missense_G272S exm626238 7 73466256 [A/G] NM_000501,NM_001081754,NM_001081752,NM_001081755,NM_001081753 ELN,ELN,ELN,ELN,ELN EXON Missense_V298I,Missense_V303I,Missense_V288I,Missense_V298I,Missense_V303I exm626243 7 73466289 [C/G] NM_000501,NM_001081754,NM_001081752,NM_001081755,NM_001081753 ELN,ELN,ELN,ELN,ELN EXON Missense_A309P,Missense_A314P,Missense_A299P,Missense_A309P,Missense_A314P exm2245899 7 73466295 [A/G] NM_000501,NM_001081754,NM_001081752,NM_001081755,NM_001081753 ELN,ELN,ELN,ELN,ELN EXON Missense_A311T,Missense_A316T,Missense_A301T,Missense_A311T,Missense_A316T exm626257 7 73469098 [T/C] NM_000501,NM_001081754,NM_001081752,NM_001081755,NM_001081753 ELN,ELN,ELN,ELN,ELN EXON Synonymous_Y383Y,Synonymous_Y388Y,Synonymous_Y373Y,Synonymous_Y383Y,Synonymous_Y388Y exm2153968 7 73470682 [T/G] NM_000501,NM_001081754,NM_001081752,NM_001081755,NM_001081753 ELN,ELN,ELN,ELN,ELN EXON Missense_V411G,Missense_V416G,Missense_V401G,Missense_V411G,Missense_V416G exm626265 7 73470714 [A/G] NM_000501,NM_001081754,NM_001081752,NM_001081755,NM_001081753 ELN,ELN,ELN,ELN,ELN EXON Missense_G422S,Missense_G427S,Missense_G412S,Missense_G422S,Missense_G427S exm626268 7 73470732 [A/G] NM_000501,NM_001081754,NM_001081752,NM_001081755,NM_001081753 ELN,ELN,ELN,ELN,ELN EXON Missense_G428R,Missense_G433R,Missense_G418R,Missense_G428R,Missense_G433R exm2153973 7 73471008 [T/C] NM_000501,NM_001081754,NM_001081752,NM_001081755,NM_001081753 ELN,ELN,ELN,ELN,ELN EXON Missense_A441V,Missense_A446V,Missense_A431V,Missense_A441V,Missense_A446V exm626276 7 73471042 [T/C] NM_000501,NM_001081754,NM_001081752,NM_001081755,NM_001081753 ELN,ELN,ELN,ELN,ELN EXON Synonymous_Y452Y,Synonymous_Y457Y,Synonymous_Y442Y,Synonymous_Y452Y,Synonymous_Y457Y exm626288 7 73472000 [A/G] NM_000501,NM_001081754,NM_001081752,NM_001081755,NM_001081753 ELN,ELN,ELN,ELN,ELN EXON Missense_K463R,Missense_K468R,Silent,Silent,Silent exm626302 7 73474308 [A/G] NM_000501,NM_001081754,NM_001081752,NM_001081755,NM_001081753 ELN,ELN,ELN,ELN,ELN EXON Missense_V503M,Missense_V508M,Missense_V474M,Missense_V484M,Missense_V489M exm626308 7 73474485 [T/C] NM_000501,NM_001081754,NM_001081752,NM_001081755,NM_001081753 ELN,ELN,ELN,ELN,ELN EXON Missense_A531V,Missense_A536V,Missense_A502V,Missense_A512V,Missense_A517V exm626311 7 73474781 [T/C] NM_000501,NM_001081754,NM_001081752,NM_001081755,NM_001081753 ELN,ELN,ELN,ELN,ELN EXON Missense_A566V,Missense_A571V,Missense_A537V,Missense_A547V,Missense_A552V exm626321 7 73477524 [A/G] NM_000501,NM_001081754,NM_001081752,NM_001081755,NM_001081753 ELN,ELN,ELN,ELN,ELN EXON Missense_G610S,Missense_G615S,Missense_G581S,Missense_G591S,Missense_G596S exm626323 7 73477642 [A/G] NM_000501,NM_001081754,NM_001081752,NM_001081755,NM_001081753 ELN,ELN,ELN,ELN,ELN EXON Missense_A621T,Missense_A626T,Missense_A592T,Missense_A602T,Missense_A607T exm626336 7 73480029 [T/C] NM_000501,NM_001081754,NM_001081752,NM_001081755,NM_001081753 ELN,ELN,ELN,ELN,ELN EXON Missense_P667S,Missense_P672S,Missense_P638S,Missense_P648S,Missense_P653S exm626341 7 73480301 [A/G] NM_000501,NM_001081754,NM_001081752,NM_001081755,NM_001081753 ELN,ELN,ELN,ELN,ELN EXON Missense_G687E,Silent,Silent,Missense_G668E,Silent exm626350 7 73482987 [A/G] NM_000501,NM_001081754,NM_001081752,NM_001081755,NM_001081753 ELN,ELN,ELN,ELN,ELN EXON Missense_G711D,Missense_G698D,Missense_G664D,Missense_G692D,Missense_G679D exm626364 7 73510996 [A/C] NM_002314,NM_001204426 LIMK1,LIMK1 EXON Missense_K66T,Missense_K32T exm626377 7 73513529 [G/C] NM_002314,NM_001204426 LIMK1,LIMK1 EXON Missense_G190A,Missense_G156A exm626394 7 73520435 [A/G] NM_002314,NM_001204426 LIMK1,LIMK1 EXON Missense_R248H,Missense_R214H exm626405 7 73520558 [A/G] NM_002314,NM_001204426 LIMK1,LIMK1 EXON Missense_R289Q,Missense_R255Q exm626420 7 73523347 [A/G] NM_002314,NM_001204426 LIMK1,LIMK1 EXON Missense_R422Q,Missense_R388Q exm626434 7 73530287 [T/C] NM_002314,NM_001204426 LIMK1,LIMK1 EXON Synonymous_N522N,Synonymous_N488N exm626452 7 73535528 [A/C] NM_002314,NM_001204426 LIMK1,LIMK1 EXON Missense_H614P,Missense_H580P exm626475 7 73604579 [A/G] NM_022170,NM_031992 EIF4H,EIF4H EXON Missense_M138V,Silent exm626508 7 73630384 [T/C] NM_032464,NM_014146,NM_032463 LAT2,LAT2,LAT2 EXON Missense_R27C,Missense_R27C,Missense_R27C exm626511 7 73631155 [T/G] NM_032464,NM_014146,NM_032463 LAT2,LAT2,LAT2 EXON Missense_G32V,Missense_G32V,Missense_G32V exm626512 7 73631177 [C/G] NM_032464,NM_014146,NM_032463 LAT2,LAT2,LAT2 EXON Missense_I39M,Missense_I39M,Missense_I39M exm626514 7 73634075 [T/C] NM_032464,NM_014146,NM_032463 LAT2,LAT2,LAT2 EXON Missense_R46C,Missense_R46C,Missense_R46C exm626515 7 73634076 [A/G] NM_032464,NM_014146,NM_032463 LAT2,LAT2,LAT2 EXON Missense_R46H,Missense_R46H,Missense_R46H exm626525 7 73635063 [A/G] NM_032464,NM_014146,NM_032463 LAT2,LAT2,LAT2 EXON Missense_I111V,Missense_I111V,Missense_I111V exm626540 7 73638987 [T/C] NM_032464,NM_014146,NM_032463 LAT2,LAT2,LAT2 EXON Missense_A216V,Missense_A216V,Missense_A216V exm626545 7 73639040 [A/G] NM_032464,NM_014146,NM_032463 LAT2,LAT2,LAT2 EXON Missense_V234M,Missense_V234M,Missense_V234M exm626551 7 73646449 [A/G] NM_181471,NM_002914 RFC2,RFC2 EXON Missense_P351L,Missense_P317L exm626555 7 73646518 [A/G] NM_181471,NM_002914 RFC2,RFC2 EXON Missense_A328V,Missense_A294V exm626566 7 73653261 [T/C] NM_181471,NM_002914 RFC2,RFC2 EXON Missense_V251M,Missense_V217M exm626568 7 73653317 [A/G] NM_181471,NM_002914 RFC2,RFC2 EXON Missense_A232V,Missense_A198V exm626583 7 73657575 [T/C] NM_181471,NM_002914 RFC2,RFC2 EXON Missense_M146V,Missense_M112V exm626621 7 73731968 [T/C] NM_003388,NM_032421 CLIP2,CLIP2 EXON Missense_S31L,Missense_S31L exm626644 7 73753191 [T/C] NM_003388,NM_032421 CLIP2,CLIP2 EXON Missense_P179S,Missense_P179S exm626646 7 73753227 [A/G] NM_003388,NM_032421 CLIP2,CLIP2 EXON Missense_V191I,Missense_V191I exm626673 7 73771749 [A/C] NM_003388,NM_032421 CLIP2,CLIP2 EXON Missense_T386K,Missense_T386K exm626678 7 73774541 [T/C] NM_003388,NM_032421 CLIP2,CLIP2 EXON Missense_R418W,Missense_R418W exm626680 7 73774559 [A/G] NM_003388,NM_032421 CLIP2,CLIP2 EXON Missense_V424M,Missense_V424M exm626693 7 73790389 [C/G] NM_003388,NM_032421 CLIP2,CLIP2 EXON Missense_S553T,Missense_S518T exm626697 7 73790424 [A/G] NM_003388,NM_032421 CLIP2,CLIP2 EXON Missense_D565N,Missense_D530N exm626699 7 73790458 [T/C] NM_003388,NM_032421 CLIP2,CLIP2 EXON Missense_A576V,Missense_A541V exm626703 7 73790530 [A/G] NM_003388,NM_032421 CLIP2,CLIP2 EXON Missense_Q600R,Missense_Q565R exm2154143 7 73790805 [A/G] NM_003388,NM_032421 CLIP2,CLIP2 EXON Missense_A692T,Missense_A657T exm626711 7 73790813 [C/G] NM_003388,NM_032421 CLIP2,CLIP2 EXON Missense_E694D,Missense_E659D exm2154145 7 73790902 [A/C] NM_003388,NM_032421 CLIP2,CLIP2 EXON Missense_Q724P,Missense_Q689P exm626725 7 73791033 [T/C] NM_003388,NM_032421 CLIP2,CLIP2 EXON Missense_R768W,Missense_R733W exm626726 7 73791034 [A/G] NM_003388,NM_032421 CLIP2,CLIP2 EXON Missense_R768Q,Missense_R733Q exm626729 7 73791082 [A/G] NM_003388,NM_032421 CLIP2,CLIP2 EXON Missense_R784Q,Missense_R749Q exm626751 7 73803526 [A/G] NM_003388,NM_032421 CLIP2,CLIP2 EXON Missense_R886Q,Missense_R851Q exm626753 7 73803540 [A/G] NM_003388,NM_032421 CLIP2,CLIP2 EXON Missense_A891T,Missense_A856T exm2266428 7 73810096 [A/G] NM_003388,NM_032421 CLIP2,CLIP2 Silent,Silent exm626768 7 73811535 [A/G] NM_003388,NM_032421 CLIP2,CLIP2 EXON Missense_R951Q,Missense_R916Q exm626771 7 73811558 [A/G] NM_003388,NM_032421 CLIP2,CLIP2 EXON Missense_G959R,Missense_G924R exm626772 7 73814702 [A/C] NM_003388,NM_032421 CLIP2,CLIP2 EXON Missense_D961E,Missense_D926E exm626774 7 73814721 [G/C] NM_003388,NM_032421 CLIP2,CLIP2 EXON Missense_D968H,Missense_D933H exm626776 7 73814749 [G/C] NM_003388,NM_032421 CLIP2,CLIP2 EXON Missense_R977P,Missense_R942P exm626783 7 73815839 [T/C] NM_003388,NM_032421 CLIP2,CLIP2 EXON Missense_I1024T,Missense_I989T exm2258447 7 73815861 [T/C] NM_003388,NM_032421 CLIP2,CLIP2 EXON Synonymous_N1031N,Synonymous_N996N exm626789 7 73818171 [A/G] NM_003388,NM_032421 CLIP2,CLIP2 EXON Missense_K1045R,Missense_K1010R exm2258449 7 73929751 [A/G] NM_016328,NM_005685,NM_001199207 GTF2IRD1,GTF2IRD1,GTF2IRD1 EXON Silent,Silent,Synonymous_S114S exm626808 7 73929839 [T/C] NM_016328,NM_005685,NM_001199207 GTF2IRD1,GTF2IRD1,GTF2IRD1 EXON Missense_R112C,Missense_R112C,Missense_R144C exm626810 7 73929852 [A/G] NM_016328,NM_005685,NM_001199207 GTF2IRD1,GTF2IRD1,GTF2IRD1 EXON Missense_R116Q,Missense_R116Q,Missense_R148Q exm626823 7 73933758 [T/C] NM_016328,NM_005685,NM_001199207 GTF2IRD1,GTF2IRD1,GTF2IRD1 EXON Missense_R209W,Missense_R209W,Missense_R241W exm626827 7 73933816 [A/G] NM_016328,NM_005685,NM_001199207 GTF2IRD1,GTF2IRD1,GTF2IRD1 EXON Missense_R228Q,Missense_R228Q,Missense_R260Q exm626830 7 73933891 [T/C] NM_016328,NM_005685,NM_001199207 GTF2IRD1,GTF2IRD1,GTF2IRD1 EXON Missense_M253T,Missense_M253T,Missense_M285T exm626838 7 73933966 [G/C] NM_016328,NM_005685,NM_001199207 GTF2IRD1,GTF2IRD1,GTF2IRD1 EXON Missense_P278R,Missense_P278R,Missense_P310R exm626893 7 73959106 [T/C] NM_016328,NM_005685,NM_001199207 GTF2IRD1,GTF2IRD1,GTF2IRD1 EXON Missense_A547V,Missense_A547V,Missense_A579V exm626912 7 73969728 [T/G] NM_016328,NM_005685,NM_001199207 GTF2IRD1,GTF2IRD1,GTF2IRD1 EXON Missense_A658S,Silent,Silent exm626923 7 73971980 [A/G] NM_016328,NM_005685,NM_001199207 GTF2IRD1,GTF2IRD1,GTF2IRD1 EXON Missense_A694T,Missense_A679T,Missense_A711T exm626925 7 73971995 [A/G] NM_016328,NM_005685,NM_001199207 GTF2IRD1,GTF2IRD1,GTF2IRD1 EXON Missense_I699V,Missense_I684V,Missense_I716V exm626937 7 73973958 [T/C] NM_016328,NM_005685,NM_001199207 GTF2IRD1,GTF2IRD1,GTF2IRD1 EXON Missense_P780S,Missense_P765S,Missense_P797S exm2266429 7 73983003 [A/G] NM_016328,NM_005685,NM_001199207 GTF2IRD1,GTF2IRD1,GTF2IRD1 Silent,Silent,Silent exm626940 7 74004204 [A/G] NM_016328,NM_005685,NM_001199207 GTF2IRD1,GTF2IRD1,GTF2IRD1 EXON Missense_G797E,Missense_G782E,Missense_G814E exm626955 7 74015470 [T/C] NM_016328,NM_005685,NM_001199207 GTF2IRD1,GTF2IRD1,GTF2IRD1 EXON Missense_P925L,Missense_P910L,Missense_P942L exm626974 7 74113293 [G/C] NM_033001,NM_001518,NM_001163636,NM_033000,NM_032999 GTF2I,GTF2I,GTF2I,GTF2I,GTF2I EXON Missense_V81L,Missense_V81L,Missense_V81L,Missense_V81L,Missense_V81L exm627191 7 74482604 [T/C] NM_030798 WBSCR16 EXON Synonymous_T152T exm627192 7 74486465 [T/C] NM_030798 WBSCR16 EXON Missense_R148Q exm2270761 7 74489889 [T/C] exm2245922 7 74564099 [A/G] NM_001003795 GTF2IRD2B EXON Missense_V616M exm627493 7 75053476 [T/G] NM_001099415 POM121C EXON Missense_P302T exm627596 7 75167524 [A/G] NM_005338,NM_001243198 HIP1,HIP1 EXON Missense_T1028I,Missense_T977I exm627607 7 75171275 [A/G] NM_005338,NM_001243198 HIP1,HIP1 EXON Missense_T972M,Missense_T921M exm627609 7 75172179 [T/C] NM_005338,NM_001243198 HIP1,HIP1 EXON Missense_E961K,Missense_E910K exm627612 7 75172253 [T/C] NM_005338,NM_001243198 HIP1,HIP1 EXON Missense_Q936R,Missense_Q885R exm-rs1167796 7 75173180 [A/G] NM_005338,NM_001243198 HIP1,HIP1 Silent,Silent exm-rs1167800 7 75176196 [A/G] NM_005338,NM_001243198 HIP1,HIP1 Silent,Silent exm627634 7 75177068 [A/G] NM_005338,NM_001243198 HIP1,HIP1 EXON Missense_L817S,Silent exm627637 7 75177111 [T/C] NM_005338,NM_001243198 HIP1,HIP1 EXON Missense_E803K,Silent exm627640 7 75178202 [A/G] NM_005338,NM_001243198 HIP1,HIP1 EXON Missense_T798M,Missense_T798M exm627641 7 75178215 [T/C] NM_005338,NM_001243198 HIP1,HIP1 EXON Missense_I794V,Missense_I794V exm627648 7 75182764 [G/C] NM_005338,NM_001243198 HIP1,HIP1 EXON Missense_K761N,Missense_K761N exm627650 7 75182802 [T/C] NM_005338,NM_001243198 HIP1,HIP1 EXON Missense_D749N,Missense_D749N exm627658 7 75182887 [T/C] NM_005338,NM_001243198 HIP1,HIP1 EXON Synonymous_S720S,Synonymous_S720S exm627686 7 75186962 [T/C] NM_005338,NM_001243198 HIP1,HIP1 EXON Missense_R526Q,Missense_R526Q exm2154568 7 75186963 [A/G] NM_005338,NM_001243198 HIP1,HIP1 EXON Missense_R526W,Missense_R526W exm2154569 7 75187016 [T/C] NM_005338,NM_001243198 HIP1,HIP1 EXON Missense_R508Q,Missense_R508Q exm627695 7 75187507 [T/G] NM_005338,NM_001243198 HIP1,HIP1 EXON Missense_S476R,Missense_S476R exm627704 7 75189054 [A/T] NM_005338,NM_001243198 HIP1,HIP1 EXON Missense_S453C,Missense_S453C exm627710 7 75189081 [A/G] NM_005338,NM_001243198 HIP1,HIP1 EXON Missense_R444W,Missense_R444W exm2258453 7 75189471 [A/G] NM_005338,NM_001243198 HIP1,HIP1 Silent,Silent exm627726 7 75192295 [T/C] NM_005338,NM_001243198 HIP1,HIP1 EXON Missense_D322N,Missense_D322N exm627731 7 75192544 [A/G] NM_005338,NM_001243198 HIP1,HIP1 EXON Missense_S276F,Missense_S276F exm627734 7 75197531 [A/G] NM_005338,NM_001243198 HIP1,HIP1 EXON Missense_R259W,Missense_R259W exm627761 7 75221832 [A/G] NM_005338,NM_001243198 HIP1,HIP1 EXON Missense_T62M,Missense_T62M exm627763 7 75228546 [A/G] NM_005338,NM_001243198 HIP1,HIP1 EXON Missense_A47V,Missense_A47V exm2262355 7 75238617 [T/C] NM_005338,NM_001243198 HIP1,HIP1 Silent,Silent exm627772 7 75368226 [T/C] NM_005338,NM_001243198 HIP1,HIP1 EXON Missense_A5T,Missense_A5T exm627784 7 75401263 [T/C] NM_006072 CCL26 EXON Nonsense_W44X exm627789 7 75401442 [A/C] NM_006072 CCL26 EXON Missense_L18R exm627803 7 75441170 [T/C] NM_002991 CCL24 EXON Missense_A102T exm627813 7 75442679 [A/G] NM_002991 CCL24 EXON Nonsense_R46X exm627815 7 75442723 [A/G] NM_002991 CCL24 EXON Missense_S31F exm627817 7 75442730 [T/G] NM_002991 CCL24 EXON Missense_I29L exm627831 7 75511203 [A/G] NM_001040457,NM_001040456 RHBDD2,RHBDD2 EXON Silent,Missense_G79S exm627833 7 75511221 [T/C] NM_001040457,NM_001040456 RHBDD2,RHBDD2 EXON Silent,Missense_R85C exm627834 7 75511222 [A/G] NM_001040457,NM_001040456 RHBDD2,RHBDD2 EXON Silent,Missense_R85H exm627837 7 75511299 [A/G] NM_001040457,NM_001040456 RHBDD2,RHBDD2 EXON Silent,Missense_A111T exm627848 7 75513055 [A/G] NM_001040457,NM_001040456 RHBDD2,RHBDD2 EXON Missense_R68Q,Missense_R209Q exm627853 7 75513163 [A/G] NM_001040457,NM_001040456 RHBDD2,RHBDD2 EXON Missense_R104Q,Missense_R245Q exm627861 7 75517489 [T/C] NM_001040457,NM_001040456 RHBDD2,RHBDD2 EXON Missense_V165A,Missense_V306A exm2154654 7 75583335 [A/G] NM_000941 POR EXON Missense_V9M exm627887 7 75608848 [A/G] NM_000941 POR EXON Missense_H106R exm2258456 7 75609677 [A/G] NM_000941 POR EXON Synonymous_P129P exm627897 7 75609690 [A/G] NM_000941 POR EXON Missense_A134T exm627901 7 75609780 [A/G] NM_000941 POR EXON Missense_V164M exm627903 7 75609804 [A/G] NM_000941 POR EXON Missense_A172T exm627909 7 75610420 [G/C] NM_000941 POR EXON Missense_V191L exm627919 7 75610876 [T/C] NM_000941 POR EXON Missense_P228L exm627932 7 75612866 [C/G] NM_000941 POR EXON Missense_A287P exm627935 7 75612905 [A/G] NM_000941 POR EXON Missense_E300K exm627937 7 75612914 [T/C] NM_000941 POR EXON Missense_L303F exm627963 7 75614245 [A/G] NM_000941 POR EXON Missense_R406H exm627967 7 75614482 [T/C] NM_000941 POR EXON Missense_P452L exm2154699 7 75614912 [A/G] NM_000941 POR EXON Missense_V472M exm627976 7 75615006 [T/C] NM_000941 POR EXON Missense_A503V exm627989 7 75615301 [T/C] NM_000941 POR EXON Missense_L577P exm2154704 7 75615369 [T/C] NM_000941 POR EXON Missense_R600W exm627999 7 75615552 [A/G] NM_000941 POR EXON Missense_V631I exm628015 7 75616507 [T/C] NM_031925 TMEM120A EXON Missense_G339R exm628016 7 75616512 [T/C] NM_031925 TMEM120A EXON Missense_R337Q exm628021 7 75616676 [A/C] NM_031925 TMEM120A Silent exm628033 7 75617074 [T/C] NM_031925 TMEM120A EXON Missense_R249Q exm628045 7 75617435 [T/C] NM_031925 TMEM120A EXON Missense_V199M exm628065 7 75618544 [T/C] NM_031925 TMEM120A Silent exm628067 7 75621511 [A/G] NM_031925 TMEM120A EXON Missense_R90C exm628073 7 75621790 [T/C] NM_031925 TMEM120A EXON Missense_K56R exm628082 7 75625797 [G/C] NM_016086 STYXL1 EXON Missense_P311A exm628096 7 75630222 [T/C] NM_016086 STYXL1 EXON Missense_E266K exm628102 7 75633160 [T/C] NM_016086 STYXL1 EXON Missense_A205T exm2154745 7 75634636 [C/G] NM_016086 STYXL1 EXON Missense_K180N exm628106 7 75634638 [T/C] NM_016086 STYXL1 EXON Missense_K180E exm628110 7 75643170 [T/C] NM_016086 STYXL1 EXON Missense_I115V exm628113 7 75651253 [T/C] NM_016086 STYXL1 EXON Missense_V75M exm628118 7 75658000 [T/C] NM_016086 STYXL1 EXON Missense_Y42C exm628123 7 75659753 [T/C] NM_016086 STYXL1 EXON Missense_Y30C exm628166 7 75687382 [A/G] NM_005918 MDH2 EXON Missense_V139I exm628168 7 75687396 [A/G] NM_005918 MDH2 EXON Synonymous_P143P exm628171 7 75689739 [A/G] NM_005918 MDH2 EXON Missense_V160M exm628182 7 75689816 [A/G] NM_005918 MDH2 EXON Synonymous_K185K exm628189 7 75693708 [G/C] NM_005918 MDH2 EXON Missense_R229G exm628192 7 75693750 [A/G] NM_005918 MDH2 EXON Missense_G243R exm628195 7 75694121 [T/C] NM_005918 MDH2 EXON Synonymous_G245G exm628201 7 75694240 [A/G] NM_005918 MDH2 EXON Missense_C285Y exm628202 7 75694252 [C/G] NM_005918 MDH2 EXON Missense_S289C exm628209 7 75695613 [A/G] NM_005918 MDH2 EXON Missense_K301R exm628215 7 75695693 [A/C] NM_005918 MDH2 EXON Missense_K328Q exm628261 7 75896593 [A/G] NM_001110199 SRRM3 EXON Missense_R283Q exm2258458 7 75896741 [T/C] NM_001110199 SRRM3 EXON Synonymous_H332H exm628274 7 75915006 [T/C] NM_001110199 SRRM3 EXON Nonsense_R603X exm628275 7 75915022 [T/C] NM_001110199 SRRM3 EXON Missense_A608V exm2266536 7 75920815 [A/G] exm628281 7 75932030 [A/C] NM_001540 HSPB1 EXON Missense_M1L exm-rs7789940 7 75951230 [A/G] exm-rs758944 7 75953297 [A/C] exm2258459 7 75958942 [A/G] NM_012479 YWHAG EXON Synonymous_L232L exm2258460 7 75959059 [T/C] NM_012479 YWHAG EXON Synonymous_A193A exm-rs7779014 7 75975586 [T/C] NM_012479 YWHAG Silent exm-rs17149161 7 75978229 [A/C] NM_012479 YWHAG Silent exm628349 7 76019476 [T/C] NM_080744 SRCRB4D EXON Missense_R543H exm628355 7 76019590 [T/C] NM_080744 SRCRB4D EXON Missense_R505Q exm628362 7 76021292 [T/C] NM_080744 SRCRB4D EXON Missense_R467Q exm628364 7 76021308 [A/G] NM_080744 SRCRB4D EXON Missense_R462W exm628367 7 76022731 [A/G] NM_080744 SRCRB4D EXON Missense_L442F exm628378 7 76024576 [A/G] NM_080744 SRCRB4D EXON Missense_P314S exm628379 7 76024597 [A/C] NM_080744 SRCRB4D EXON Missense_D307Y exm628381 7 76024608 [A/G] NM_080744 SRCRB4D EXON Missense_A303V exm628385 7 76024638 [G/C] NM_080744 SRCRB4D EXON Missense_P293R exm628398 7 76028057 [A/G] NM_080744,NM_007155 SRCRB4D,ZP3 EXON Missense_T178M,Silent exm2154851 7 76029680 [A/G] NM_080744,NM_007155 SRCRB4D,ZP3 EXON Missense_A133V,Silent exm628415 7 76029695 [T/C] NM_080744,NM_007155 SRCRB4D,ZP3 EXON Missense_R128H,Silent exm628424 7 76029798 [T/C] NM_080744,NM_007155 SRCRB4D,ZP3 EXON Missense_V94I,Silent exm2266431 7 76034794 [A/G] NM_080744,NM_007155 SRCRB4D,ZP3 Silent,Silent exm628444 7 76054372 [A/G] NM_007155,NM_001110354 ZP3,ZP3 EXON Silent,Missense_G31R exm628445 7 76054389 [C/G] NM_007155,NM_001110354 ZP3,ZP3 EXON Silent,Missense_E36D exm628458 7 76054543 [T/G] NM_007155,NM_001110354 ZP3,ZP3 EXON Missense_D37Y,Missense_D88Y exm2154863 7 76058841 [A/G] NM_007155,NM_001110354 ZP3,ZP3 EXON Missense_D57N,Missense_D108N exm628466 7 76058857 [A/G] NM_007155,NM_001110354 ZP3,ZP3 EXON Missense_S62N,Missense_S113N exm628478 7 76062244 [T/G] NM_007155,NM_001110354 ZP3,ZP3 EXON Missense_R93S,Missense_R144S exm628480 7 76062336 [A/G] NM_007155,NM_001110354 ZP3,ZP3 EXON Missense_R124H,Missense_R175H exm628483 7 76062798 [A/G] NM_007155,NM_001110354 ZP3,ZP3 EXON Missense_A132T,Missense_A183T exm2154878 7 76069926 [A/G] NM_007155,NM_001110354 ZP3,ZP3 EXON Missense_H302R,Missense_H353R exm2258461 7 76111835 [A/G] NM_001102595,NM_020892,NM_001102594,NM_001102596 DTX2,DTX2,DTX2,DTX2 EXON Synonymous_R93R,Synonymous_R93R,Synonymous_R93R,Synonymous_R93R exm628554 7 76111938 [A/G] NM_001102595,NM_020892,NM_001102594,NM_001102596 DTX2,DTX2,DTX2,DTX2 EXON Missense_V128I,Missense_V128I,Missense_V128I,Missense_V128I exm628590 7 76112299 [A/G] NM_001102595,NM_020892,NM_001102594,NM_001102596 DTX2,DTX2,DTX2,DTX2 EXON Missense_N248S,Missense_N248S,Missense_N248S,Missense_N248S exm628625 7 76131646 [T/C] NM_001102595,NM_020892,NM_001102594,NM_001102596 DTX2,DTX2,DTX2,DTX2 EXON Missense_T421I,Missense_T421I,Missense_T421I,Missense_T374I exm628628 7 76131684 [A/G] NM_001102595,NM_020892,NM_001102594,NM_001102596 DTX2,DTX2,DTX2,DTX2 EXON Missense_I434V,Missense_I434V,Missense_I434V,Missense_I387V exm628634 7 76131706 [A/G] NM_001102595,NM_020892,NM_001102594,NM_001102596 DTX2,DTX2,DTX2,DTX2 EXON Missense_H441R,Missense_H441R,Missense_H441R,Missense_H394R exm628660 7 76134915 [G/C] NM_001102595,NM_020892,NM_001102594,NM_001102596 DTX2,DTX2,DTX2,DTX2 EXON Missense_Q622H,Missense_Q622H,Missense_Q622H,Missense_Q575H exm2154971 7 76143306 [C/G] NM_182683,NM_030570,NM_182684 UPK3B,UPK3B,UPK3B EXON Missense_K168N,Missense_K223N,Missense_S195T exm628719 7 76143382 [T/C] NM_182683,NM_030570,NM_182684 UPK3B,UPK3B,UPK3B EXON Missense_Y194H,Missense_Y249H,Synonymous_S220S exm628722 7 76143390 [A/G] NM_182683,NM_030570,NM_182684 UPK3B,UPK3B,UPK3B EXON Synonymous_A196A,Synonymous_A251A,Missense_R223H exm628728 7 76144403 [A/G] NM_182683,NM_030570,NM_182684 UPK3B,UPK3B,UPK3B EXON Synonymous_A211A,Synonymous_A266A,Missense_R238Q exm2245957 7 76144410 [T/C] NM_182683,NM_030570,NM_182684 UPK3B,UPK3B,UPK3B EXON Missense_L214F,Missense_L269F,Synonymous_G240G exm628734 7 76144473 [A/G] NM_182683,NM_030570,NM_182684 UPK3B,UPK3B,UPK3B EXON Missense_G235S,Missense_G290S,Synonymous_P261P exm628742 7 76144561 [A/G] NM_182683,NM_030570,NM_182684 UPK3B,UPK3B,UPK3B EXON Nonsense_W264X,Nonsense_W319X,Silent exm628758 7 76240814 [T/C] NR_029411,NM_012230,NM_152992 LOC100133091,POMZP3,POMZP3 EXON Silent,Missense_V178M,Silent exm628760 7 76240819 [T/C] NR_029411,NM_012230,NM_152992 LOC100133091,POMZP3,POMZP3 EXON Silent,Missense_R176H,Silent exm-rs6955651 7 76639871 [T/C] NR_023383 DTX2P1-UPK3BP1-PMS2P11 Silent exm628822 7 76826258 [G/C] NM_020879,NM_006682 CCDC146,FGL2 EXON Silent,Missense_G220R exm628833 7 76828792 [T/C] NM_020879,NM_006682 CCDC146,FGL2 EXON Silent,Missense_G107R exm628834 7 76828793 [A/G] NM_020879,NM_006682 CCDC146,FGL2 EXON Silent,Synonymous_N106N exm628836 7 76828839 [A/C] NM_020879,NM_006682 CCDC146,FGL2 EXON Silent,Missense_S91I exm628840 7 76828953 [T/C] NM_020879,NM_006682 CCDC146,FGL2 EXON Silent,Missense_G53E exm628842 7 76829010 [T/C] NM_020879,NM_006682 CCDC146,FGL2 EXON Silent,Missense_R34K exm628852 7 76871048 [T/C] NM_020879 CCDC146 EXON Missense_R94C exm628857 7 76871121 [T/C] NM_020879 CCDC146 EXON Missense_T118M exm628863 7 76883838 [A/C] NM_020879 CCDC146 EXON Missense_K155N exm628866 7 76885752 [T/G] NM_020879 CCDC146 EXON Missense_A204S exm628873 7 76888375 [T/C] NM_020879 CCDC146 EXON Missense_R250C exm628875 7 76889354 [G/C] NM_020879 CCDC146 EXON Missense_E263Q exm628876 7 76889366 [A/G] NM_020879 CCDC146 EXON Missense_K267E exm2155072 7 76889459 [T/C] NM_020879 CCDC146 EXON Nonsense_R298X exm628889 7 76891485 [A/G] NM_020879 CCDC146 EXON Missense_N345S exm2245970 7 76903105 [A/T] NM_020879 CCDC146 EXON Missense_Q423L exm628897 7 76903799 [A/C] NM_020879 CCDC146 EXON Missense_K424Q exm628898 7 76903907 [T/C] NM_020879 CCDC146 EXON Missense_R460C exm628901 7 76903926 [T/C] NM_020879 CCDC146 EXON Missense_I466T exm628905 7 76908142 [A/G] NM_020879 CCDC146 EXON Missense_C505Y exm628906 7 76908153 [T/C] NM_020879 CCDC146 EXON Missense_R509W exm628916 7 76908361 [A/G] NM_020879 CCDC146 EXON Missense_H546R exm628923 7 76909913 [A/G] NM_020879 CCDC146 EXON Missense_E621G exm628953 7 76922297 [A/C] NM_020879 CCDC146 EXON Missense_N815T exm628955 7 76922313 [C/G] NM_020879 CCDC146 EXON Missense_M820I exm628956 7 76922314 [T/A] NM_020879 CCDC146 EXON Missense_M821L exm628991 7 76941245 [T/C] NM_017439 PION EXON Missense_M796V exm628998 7 76941441 [C/G] NM_017439 PION EXON Missense_L784V exm629004 7 76942810 [T/G] NM_017439 PION EXON Missense_P756T exm629007 7 76943687 [T/C] NM_017439 PION EXON Missense_D737N exm629018 7 76950686 [A/C] NM_017439 PION EXON Missense_W653L exm629020 7 76950699 [T/C] NM_017439 PION EXON Missense_V649I exm629021 7 76953035 [A/T] NM_017439 PION EXON Missense_F618I exm629029 7 76958678 [T/C] NM_017439 PION EXON Missense_V569M exm629031 7 76958692 [G/C] NM_017439 PION EXON Missense_R564T exm629052 7 76982302 [C/G] NM_017439 PION EXON Missense_D484H exm629053 7 76982340 [A/G] NM_017439 PION EXON Missense_S471F exm629059 7 76984555 [T/C] NM_017439 PION EXON Missense_Q438R exm629061 7 76984571 [T/C] NM_017439 PION EXON Missense_A433T exm629080 7 76991935 [T/C] NM_017439 PION EXON Missense_G305E exm629097 7 77006656 [C/G] NM_017439 PION EXON Missense_V210L exm2155151 7 77011932 [T/G] NM_017439 PION EXON Missense_P162H exm2155152 7 77011934 [T/A] NM_017439 PION EXON Missense_H161Q exm629106 7 77011944 [A/G] NM_017439 PION EXON Missense_I158T exm629116 7 77035392 [T/C] NM_017439 PION EXON Missense_H47R exm2258465 7 77043863 [A/G] NM_017439 PION Silent exm2270763 7 77055836 [T/C] exm629127 7 77166931 [A/C] NM_002835 PTPN12 EXON Missense_N23T exm629129 7 77166952 [A/G] NM_002835 PTPN12 EXON Missense_R30Q exm629135 7 77212879 [A/G] NM_002835,NM_001131008,NM_001131009 PTPN12,PTPN12,PTPN12 EXON Missense_Y98C,Silent,Silent exm629149 7 77230107 [A/G] NM_002835,NM_001131008,NM_001131009 PTPN12,PTPN12,PTPN12 EXON Missense_I227V,Missense_I108V,Missense_I97V exm629157 7 77247821 [A/G] NM_002835,NM_001131008,NM_001131009 PTPN12,PTPN12,PTPN12 EXON Missense_V322I,Missense_V203I,Missense_V192I exm629170 7 77256365 [A/C] NM_002835,NM_001131008,NM_001131009 PTPN12,PTPN12,PTPN12 EXON Missense_N457H,Missense_N338H,Missense_N327H exm629172 7 77256407 [A/G] NM_002835,NM_001131008,NM_001131009 PTPN12,PTPN12,PTPN12 EXON Missense_I471V,Missense_I352V,Missense_I341V exm629186 7 77256713 [A/G] NM_002835,NM_001131008,NM_001131009 PTPN12,PTPN12,PTPN12 EXON Missense_T573A,Missense_T454A,Missense_T443A exm629193 7 77256945 [T/C] NM_002835,NM_001131008,NM_001131009 PTPN12,PTPN12,PTPN12 EXON Missense_I650T,Missense_I531T,Missense_I520T exm629196 7 77261719 [T/C] NM_002835,NM_001131008,NM_001131009 PTPN12,PTPN12,PTPN12 EXON Missense_S684L,Missense_S565L,Missense_S554L exm629198 7 77265119 [T/G] NM_002835,NM_001131008,NM_001131009 PTPN12,PTPN12,PTPN12 EXON Missense_W699G,Missense_W580G,Missense_W569G exm2155194 7 77265144 [A/G] NM_002835,NM_001131008,NM_001131009 PTPN12,PTPN12,PTPN12 EXON Missense_R707Q,Missense_R588Q,Missense_R577Q exm629217 7 77325811 [A/C] NR_038361,NM_198467 RSBN1L-AS1,RSBN1L EXON Silent,Missense_H9N exm629224 7 77325919 [A/G] NR_038361,NM_198467 RSBN1L-AS1,RSBN1L EXON Silent,Missense_V45I exm2155208 7 77326070 [C/G] NR_038361,NM_198467 RSBN1L-AS1,RSBN1L EXON Silent,Missense_P95R exm629247 7 77378834 [A/G] NM_198467 RSBN1L EXON Missense_R266Q exm629249 7 77378843 [T/C] NM_198467 RSBN1L EXON Missense_P269L exm629259 7 77379173 [A/G] NM_198467 RSBN1L EXON Missense_R379K exm629263 7 77379331 [T/G] NM_198467 RSBN1L EXON Missense_L432V exm629294 7 77408295 [A/G] NM_198467 RSBN1L EXON Missense_K784R exm629297 7 77408369 [A/G] NM_198467 RSBN1L EXON Missense_S809G exm-rs6465825 7 77416439 [T/C] exm629308 7 77423414 [T/C] NM_032936 TMEM60 EXON Missense_A93T exm629311 7 77423450 [A/G] NM_032936 TMEM60 EXON Missense_L81F exm629323 7 77522948 [A/G] NM_001127360,NM_001127358,NM_020432,NM_001127359,NM_001127357 PHTF2,PHTF2,PHTF2,PHTF2,PHTF2 EXON Missense_I23M,Missense_I23M,Missense_I23M,Missense_I23M,Missense_I23M exm629339 7 77539659 [A/G] NM_001127360,NM_001127358,NM_020432,NM_001127359,NM_001127357 PHTF2,PHTF2,PHTF2,PHTF2,PHTF2 EXON Missense_T199A,Missense_T199A,Missense_T199A,Missense_T203A,Missense_T203A exm629349 7 77549759 [A/G] NM_001127360,NM_001127358,NM_020432,NM_001127359,NM_001127357 PHTF2,PHTF2,PHTF2,PHTF2,PHTF2 EXON Missense_T276A,Missense_T276A,Missense_T276A,Missense_T280A,Missense_T280A exm629350 7 77551959 [C/G] NM_001127360,NM_001127358,NM_020432,NM_001127359,NM_001127357 PHTF2,PHTF2,PHTF2,PHTF2,PHTF2 EXON Missense_T290R,Missense_T290R,Missense_T290R,Missense_T294R,Missense_T294R exm629351 7 77552022 [A/G] NM_001127360,NM_001127358,NM_020432,NM_001127359,NM_001127357 PHTF2,PHTF2,PHTF2,PHTF2,PHTF2 EXON Missense_H311R,Missense_H311R,Missense_H311R,Missense_H315R,Missense_H315R exm629352 7 77552058 [A/G] NM_001127360,NM_001127358,NM_020432,NM_001127359,NM_001127357 PHTF2,PHTF2,PHTF2,PHTF2,PHTF2 EXON Missense_R323K,Missense_R323K,Missense_R323K,Missense_R327K,Missense_R327K exm629355 7 77552127 [A/G] NM_001127360,NM_001127358,NM_020432,NM_001127359,NM_001127357 PHTF2,PHTF2,PHTF2,PHTF2,PHTF2 EXON Missense_R346H,Silent,Silent,Missense_R350H,Silent exm629356 7 77558425 [T/G] NM_001127358,NM_020432,NM_001127357 PHTF2,PHTF2,PHTF2 Silent,Silent,Silent exm629359 7 77558603 [C/G] NM_001127358,NM_020432,NM_001127357 PHTF2,PHTF2,PHTF2 EXON Missense_P395A,Missense_P395A,Missense_P399A exm629360 7 77558607 [C/G] NM_001127358,NM_020432,NM_001127357 PHTF2,PHTF2,PHTF2 EXON Missense_C396S,Missense_C396S,Missense_C400S exm629396 7 77649089 [T/C] NM_012301 MAGI2 EXON Missense_G1304D exm629438 7 77762326 [A/G] NM_012301 MAGI2 EXON Missense_A1028V exm2258466 7 77778668 [T/C] NM_012301 MAGI2 Silent exm629450 7 77789408 [G/C] NM_012301 MAGI2 EXON Missense_E927Q exm629453 7 77789464 [C/G] NM_012301 MAGI2 EXON Missense_P908R exm629458 7 77789570 [T/C] NM_012301 MAGI2 EXON Missense_G873R exm2155294 7 77797349 [A/T] NM_012301 MAGI2 EXON Missense_Y827F exm629478 7 77824247 [T/C] NM_012301 MAGI2 EXON Missense_R738Q exm2258467 7 77824318 [T/C] NM_012301 MAGI2 EXON Synonymous_P714P exm629485 7 77824329 [T/G] NM_012301 MAGI2 EXON Missense_P711T exm-rs2691543 7 77964788 [T/C] NM_012301 MAGI2 Silent exm-rs714438 7 77982305 [T/C] NM_012301,NR_003680 MAGI2,RPL13AP17 Silent,Silent exm2266537 7 78080548 [A/G] NM_012301 MAGI2 Silent exm629543 7 78130966 [T/C] NM_012301 MAGI2 EXON Missense_N298S exm629545 7 78131039 [T/C] NM_012301 MAGI2 EXON Missense_A274T exm629546 7 78131047 [A/G] NM_012301 MAGI2 EXON Missense_P271L exm-rs11525066 7 78175977 [A/G] NM_012301 MAGI2 Silent exm2270636 7 78256643 [T/G] NM_012301 MAGI2 Silent exm2266434 7 78562474 [A/G] NM_012301 MAGI2 Silent exm2266538 7 78701601 [A/G] NM_012301 MAGI2 Silent exm2266435 7 79084800 [A/G] NR_038346,NR_038345,NR_038344,NR_038343 MAGI2-AS3,MAGI2-AS3,MAGI2-AS3,MAGI2-AS3 Silent,Silent,Silent,Silent exm-rs7783895 7 79159240 [A/G] exm2266436 7 79643444 [A/G] exm2270764 7 79665088 [T/G] exm629608 7 79828617 [T/C] NM_002069,NM_001256414 GNAI1,GNAI1 EXON Missense_I127T,Missense_I75T exm629630 7 80088014 [A/C] NM_001102386 GNAT3 EXON Missense_E346D exm629639 7 80091826 [T/C] NM_001102386 GNAT3 EXON Missense_E238K exm629650 7 80108221 [T/C] NM_001102386 GNAT3 EXON Missense_D133N exm629653 7 80108305 [A/G] NM_001102386 GNAT3 EXON Nonsense_R105X exm629654 7 80117849 [A/C] NM_001102386 GNAT3 Silent exm629663 7 80141137 [T/G] NM_001102386 GNAT3 EXON Missense_L36M exm629664 7 80141152 [T/C] NM_001102386 GNAT3 EXON Missense_A31T exm2245981 7 80231504 [G/C] NM_001001547 CD36 EXON Silent exm2258474 7 80234243 [T/G] NM_001001547 CD36 Silent exm-rs10499859 7 80258810 [A/G] NM_001001547 CD36 Silent exm629669 7 80276061 [T/G] NM_001001547,NM_001001548,NM_000072,NM_001127443,NM_001127444 CD36,CD36,CD36,CD36,CD36 EXON Missense_G2V,Missense_G2V,Missense_G2V,Missense_G2V,Missense_G2V exm629684 7 80285893 [A/G] NM_001001547,NM_001001548,NM_000072,NM_001127443,NM_001127444 CD36,CD36,CD36,CD36,CD36 EXON Missense_N53S,Missense_N53S,Missense_N53S,Missense_N53S,Missense_N53S exm2245982 7 80286003 [T/C] NM_001001547,NM_001001548,NM_000072,NM_001127443,NM_001127444 CD36,CD36,CD36,CD36,CD36 EXON Missense_P90S,Missense_P90S,Missense_P90S,Missense_P90S,Missense_P90S exm629704 7 80290500 [T/C] NM_001001547,NM_001001548,NM_000072,NM_001127443,NM_001127444 CD36,CD36,CD36,CD36,CD36 EXON Missense_F135L,Missense_F135L,Missense_F135L,Missense_F135L,Missense_F135L exm629706 7 80290527 [A/G] NM_001001547,NM_001001548,NM_000072,NM_001127443,NM_001127444 CD36,CD36,CD36,CD36,CD36 Silent,Silent,Silent,Silent,Silent exm629707 7 80290528 [T/C] NM_001001547,NM_001001548,NM_000072,NM_001127443,NM_001127444 CD36,CD36,CD36,CD36,CD36 Silent,Silent,Silent,Silent,Silent exm629710 7 80292304 [A/G] NM_001001547,NM_001001548,NM_000072,NM_001127443,NM_001127444 CD36,CD36,CD36,CD36,CD36 Silent,Silent,Silent,Silent,Silent exm2155422 7 80292414 [T/C] NM_001001547,NM_001001548,NM_000072,NM_001127443,NM_001127444 CD36,CD36,CD36,CD36,CD36 EXON Missense_W180R,Missense_W180R,Missense_W180R,Missense_W180R,Missense_W180R exm2155423 7 80292415 [A/G] NM_001001547,NM_001001548,NM_000072,NM_001127443,NM_001127444 CD36,CD36,CD36,CD36,CD36 EXON Nonsense_W180X,Nonsense_W180X,Nonsense_W180X,Nonsense_W180X,Nonsense_W180X exm629720 7 80292426 [A/G] NM_001001547,NM_001001548,NM_000072,NM_001127443,NM_001127444 CD36,CD36,CD36,CD36,CD36 EXON Missense_D184N,Missense_D184N,Missense_D184N,Missense_D184N,Missense_D184N exm629722 7 80292448 [T/C] NM_001001547,NM_001001548,NM_000072,NM_001127443,NM_001127444 CD36,CD36,CD36,CD36,CD36 EXON Missense_P191L,Missense_P191L,Missense_P191L,Missense_P191L,Missense_P191L exm629728 7 80293761 [A/G] NM_001001547,NM_001001548,NM_000072,NM_001127443,NM_001127444 CD36,CD36,CD36,CD36,CD36 EXON Missense_G217R,Missense_G217R,Missense_G217R,Missense_G217R,Missense_G217R exm629729 7 80293767 [T/G] NM_001001547,NM_001001548,NM_000072,NM_001127443,NM_001127444 CD36,CD36,CD36,CD36,CD36 EXON Missense_D219Y,Missense_D219Y,Missense_D219Y,Missense_D219Y,Missense_D219Y exm629739 7 80295802 [A/G] NM_001001547,NM_001001548,NM_000072,NM_001127443,NM_001127444 CD36,CD36,CD36,CD36,CD36 EXON Missense_T249A,Missense_T249A,Missense_T249A,Missense_T249A,Missense_T249A exm629740 7 80295803 [C/G] NM_001001547,NM_001001548,NM_000072,NM_001127443,NM_001127444 CD36,CD36,CD36,CD36,CD36 EXON Missense_T249R,Missense_T249R,Missense_T249R,Missense_T249R,Missense_T249R exm2274241 7 80299280 [T/C] NM_001001547,NM_001001548,NM_000072,NM_001127443,NM_001127444 CD36,CD36,CD36,CD36,CD36 EXON Missense_F254L,Missense_F254L,Missense_F254L,Missense_F254L,Missense_F254L exm629750 7 80300318 [A/G] NM_001001547,NM_001001548,NM_000072,NM_001127443,NM_001127444 CD36,CD36,CD36,CD36,CD36 EXON Missense_D282N,Missense_D282N,Missense_D282N,Missense_D282N,Missense_D282N exm2245985 7 80300349 [T/G] NM_001001547,NM_001001548,NM_000072,NM_001127443,NM_001127444 CD36,CD36,CD36,CD36,CD36 EXON Missense_R292I,Missense_R292I,Missense_R292I,Missense_R292I,Missense_R292I exm629760 7 80300449 [T/G] NM_001001547,NM_001001548,NM_000072,NM_001127443,NM_001127444 CD36,CD36,CD36,CD36,CD36 EXON Nonsense_Y325X,Nonsense_Y325X,Nonsense_Y325X,Nonsense_Y325X,Nonsense_Y325X exm629762 7 80300474 [A/G] NM_001001547,NM_001001548,NM_000072,NM_001127443,NM_001127444 CD36,CD36,CD36,CD36,CD36 EXON Missense_K334E,Missense_K334E,Missense_K334E,Missense_K334E,Missense_K334E exm629765 7 80301244 [T/C] NM_001001547,NM_001001548,NM_000072,NM_001127443,NM_001127444 CD36,CD36,CD36,CD36,CD36 EXON Missense_P338L,Missense_P338L,Missense_P338L,Missense_P338L,Missense_P338L exm629767 7 80301274 [A/T] NM_001001547,NM_001001548,NM_000072,NM_001127443,NM_001127444 CD36,CD36,CD36,CD36,CD36 EXON Missense_Y348F,Missense_Y348F,Missense_Y348F,Missense_Y348F,Missense_Y348F exm629773 7 80301310 [T/G] NM_001001547,NM_001001548,NM_000072,NM_001127443,NM_001127444 CD36,CD36,CD36,CD36,CD36 EXON Nonsense_L360X,Nonsense_L360X,Nonsense_L360X,Nonsense_L360X,Nonsense_L360X exm629784 7 80302093 [T/G] NM_001001547,NM_001001548,NM_000072,NM_001127443,NM_001127444 CD36,CD36,CD36,CD36,CD36 EXON Missense_G378V,Missense_G378V,Missense_G378V,Missense_G378V,Missense_G378V exm629787 7 80302104 [T/C] NM_001001547,NM_001001548,NM_000072,NM_001127443,NM_001127444 CD36,CD36,CD36,CD36,CD36 EXON Nonsense_Q382X,Nonsense_Q382X,Nonsense_Q382X,Nonsense_Q382X,Nonsense_Q382X exm629789 7 80302116 [T/C] NM_001001547,NM_001001548,NM_000072,NM_001127443,NM_001127444 CD36,CD36,CD36,CD36,CD36 EXON Missense_R386W,Missense_R386W,Missense_R386W,Missense_R386W,Missense_R386W exm629802 7 80302726 [A/G] NM_001001547,NM_001001548,NM_000072,NM_001127443,NM_001127444 CD36,CD36,CD36,CD36,CD36 Silent,Silent,Silent,Silent,Silent exm629806 7 80303323 [T/G] NM_001001547,NM_001001548,NM_000072,NM_001127443,NM_001127444 CD36,CD36,CD36,CD36,CD36 EXON Missense_A427S,Missense_A427S,Missense_A427S,Missense_A427S,Missense_A427S exm629826 7 80374451 [T/C] NM_006379 SEMA3C EXON Missense_D672G exm629831 7 80374532 [C/G] NM_006379 SEMA3C EXON Missense_A645G exm629838 7 80378255 [T/C] NM_006379 SEMA3C EXON Missense_I601V exm629841 7 80378294 [T/C] NM_006379 SEMA3C EXON Missense_T588A exm2266539 7 80385987 [A/G] NM_006379 SEMA3C Silent exm629864 7 80394556 [T/C] NM_006379 SEMA3C EXON Missense_R453Q exm629889 7 80427530 [T/C] NM_006379 SEMA3C EXON Missense_V337M exm629891 7 80430074 [T/C] NM_006379 SEMA3C EXON Missense_S329G exm629892 7 80430097 [A/G] NM_006379 SEMA3C EXON Missense_V321A exm629902 7 80433462 [T/C] NM_006379 SEMA3C EXON Missense_S254N exm629903 7 80433465 [T/C] NM_006379 SEMA3C EXON Missense_R253K exm629906 7 80433535 [A/G] NM_006379 SEMA3C EXON Missense_P230S exm629913 7 80439972 [A/G] NM_006379 SEMA3C EXON Missense_R165C exm2155511 7 80546008 [A/T] NM_006379 SEMA3C EXON Nonsense_Y30X exm629937 7 80546070 [A/C] NM_006379 SEMA3C EXON Missense_V10F exm629938 7 80546071 [A/C] NM_006379 SEMA3C EXON Missense_L9F exm-rs4236644 7 80599357 [A/G] exm2270638 7 80812398 [T/C] exm2258476 7 81056006 [T/C] exm2266540 7 81297342 [A/G] exm629951 7 81334782 [T/C] NM_001010932,NM_000601 HGF,HGF EXON Missense_H640R,Missense_H645R exm629952 7 81334818 [T/C] NM_001010932,NM_000601 HGF,HGF EXON Missense_H628R,Missense_H633R exm629953 7 81334825 [T/C] NM_001010932,NM_000601 HGF,HGF EXON Missense_V626M,Missense_V631M exm629991 7 81359051 [T/C] NM_001010932,NM_000601 HGF,HGF EXON Missense_E299K,Missense_E304K exm630001 7 81374338 [A/G] NM_001010932,NM_000601,NM_001010933,NM_001010931 HGF,HGF,HGF,HGF EXON Missense_R237W,Missense_R242W,Missense_R237W,Missense_R242W exm630005 7 81374380 [A/C] NM_001010932,NM_000601,NM_001010933,NM_001010931 HGF,HGF,HGF,HGF EXON Missense_S223A,Missense_S228A,Missense_S223A,Missense_S228A exm630007 7 81374424 [G/C] NM_001010932,NM_000601,NM_001010933,NM_001010931 HGF,HGF,HGF,HGF EXON Missense_T208S,Missense_T213S,Missense_T208S,Missense_T213S exm630024 7 81392140 [A/G] NM_001010932,NM_000601,NM_001010933,NM_001010931,NM_001010934 HGF,HGF,HGF,HGF,HGF EXON Missense_A46V,Missense_A46V,Missense_A46V,Missense_A46V,Missense_A46V exm630036 7 81588616 [T/G] NM_000722 CACNA2D1 EXON Missense_D1045A exm630052 7 81593384 [C/G] NM_000722 CACNA2D1 EXON Missense_T923S exm630066 7 81596485 [A/G] NM_000722 CACNA2D1 EXON Synonymous_D834D exm630067 7 81596978 [T/A] NM_000722 CACNA2D1 EXON Synonymous_V799V exm630078 7 81601108 [T/C] NM_000722 CACNA2D1 EXON Missense_S709N exm630088 7 81611940 [A/G] NM_000722 CACNA2D1 EXON Missense_S633L exm630117 7 81637030 [T/C] NM_000722 CACNA2D1 EXON Missense_I469V exm630121 7 81641532 [T/C] NM_000722 CACNA2D1 EXON Missense_M434V exm630138 7 81667534 [G/C] NM_000722 CACNA2D1 EXON Missense_Q299H exm630155 7 81714211 [T/C] NM_000722 CACNA2D1 EXON Missense_I178V exm630156 7 81714215 [T/G] NM_000722 CACNA2D1 EXON Synonymous_S176S exm2266437 7 81735015 [A/G] NM_000722 CACNA2D1 Silent exm-rs10954668 7 81847651 [A/G] NM_000722 CACNA2D1 Silent exm2270765 7 82084287 [T/G] exm-rs2371208 7 82337859 [T/G] exm2245999 7 82387905 [T/C] NM_033026 PCLO EXON Missense_T5139A exm-rs2715148 7 82450035 [A/C] NM_033026,NM_014510 PCLO,PCLO EXON Silent,Silent exm630200 7 82451836 [A/G] NM_033026,NM_014510 PCLO,PCLO EXON Synonymous_A4922A,Synonymous_A4922A exm2258481 7 82451836 [A/G] NM_033026,NM_014510 PCLO,PCLO EXON Synonymous_A4922A,Synonymous_A4922A exm630204 7 82451900 [T/C] NM_033026,NM_014510 PCLO,PCLO EXON Missense_K4901R,Missense_K4901R exm630212 7 82453708 [A/C] NM_033026,NM_014510 PCLO,PCLO EXON Missense_S4814A,Missense_S4814A exm630227 7 82474616 [T/C] NM_033026,NM_014510 PCLO,PCLO EXON Missense_V4673M,Missense_V4673M exm630232 7 82474793 [T/C] NM_033026,NM_014510 PCLO,PCLO EXON Missense_A4614T,Missense_A4614T exm630244 7 82508724 [T/C] NM_033026,NM_014510 PCLO,PCLO EXON Missense_G4528E,Missense_G4528E exm630246 7 82508736 [A/G] NM_033026,NM_014510 PCLO,PCLO EXON Missense_P4524L,Missense_P4524L exm2155760 7 82532000 [T/C] NM_033026,NM_014510 PCLO,PCLO EXON Missense_I4499V,Missense_I4499V exm630249 7 82538210 [T/C] NM_033026,NM_014510 PCLO,PCLO EXON Missense_S4474G,Missense_S4474G exm2155763 7 82538239 [A/G] NM_033026,NM_014510 PCLO,PCLO EXON Missense_P4464L,Missense_P4464L exm630258 7 82544091 [T/C] NM_033026,NM_014510 PCLO,PCLO EXON Missense_H4404R,Missense_H4404R exm630266 7 82544446 [T/C] NM_033026,NM_014510 PCLO,PCLO EXON Missense_G4286S,Missense_G4286S exm630268 7 82544502 [A/G] NM_033026,NM_014510 PCLO,PCLO EXON Missense_L4267S,Missense_L4267S exm630270 7 82544530 [A/G] NM_033026,NM_014510 PCLO,PCLO EXON Missense_S4258P,Missense_S4258P exm630288 7 82545042 [T/C] NM_033026,NM_014510 PCLO,PCLO EXON Missense_R4087Q,Missense_R4087Q exm630297 7 82545244 [T/C] NM_033026,NM_014510 PCLO,PCLO EXON Missense_S4020G,Missense_S4020G exm630301 7 82545331 [T/C] NM_033026,NM_014510 PCLO,PCLO EXON Missense_V3991I,Missense_V3991I exm630305 7 82545376 [A/G] NM_033026,NM_014510 PCLO,PCLO EXON Missense_S3976P,Missense_S3976P exm630323 7 82545788 [T/G] NM_033026,NM_014510 PCLO,PCLO EXON Missense_E3838D,Missense_E3838D exm630342 7 82579137 [C/G] NM_033026,NM_014510 PCLO,PCLO EXON Missense_D3589E,Missense_D3589E exm630344 7 82579183 [T/C] NM_033026,NM_014510 PCLO,PCLO EXON Missense_D3574G,Missense_D3574G exm630351 7 82579384 [G/C] NM_033026,NM_014510 PCLO,PCLO EXON Missense_T3507S,Missense_T3507S exm630354 7 82579438 [T/C] NM_033026,NM_014510 PCLO,PCLO EXON Missense_R3489K,Missense_R3489K exm630357 7 82579502 [G/C] NM_033026,NM_014510 PCLO,PCLO EXON Missense_V3468L,Missense_V3468L exm630363 7 82579610 [T/C] NM_033026,NM_014510 PCLO,PCLO EXON Missense_D3432N,Missense_D3432N exm630377 7 82579933 [T/C] NM_033026,NM_014510 PCLO,PCLO EXON Missense_G3324E,Missense_G3324E exm630380 7 82579999 [T/C] NM_033026,NM_014510 PCLO,PCLO EXON Missense_Q3302R,Missense_Q3302R exm630385 7 82580293 [T/A] NM_033026,NM_014510 PCLO,PCLO EXON Missense_V3204D,Missense_V3204D exm2246005 7 82580333 [A/T] NM_033026,NM_014510 PCLO,PCLO EXON Missense_F3191I,Missense_F3191I exm630389 7 82580374 [A/G] NM_033026,NM_014510 PCLO,PCLO EXON Missense_T3177M,Missense_T3177M exm630395 7 82580429 [T/C] NM_033026,NM_014510 PCLO,PCLO EXON Missense_I3159V,Missense_I3159V exm630402 7 82580531 [T/C] NM_033026,NM_014510 PCLO,PCLO EXON Missense_D3125N,Missense_D3125N exm630412 7 82581261 [A/C] NM_033026,NM_014510 PCLO,PCLO EXON Missense_G3003V,Missense_G3003V exm630426 7 82581503 [T/G] NM_033026,NM_014510 PCLO,PCLO EXON Missense_K2922N,Missense_K2922N exm630434 7 82581768 [A/G] NM_033026,NM_014510 PCLO,PCLO EXON Missense_P2834L,Missense_P2834L exm630436 7 82581811 [T/C] NM_033026,NM_014510 PCLO,PCLO EXON Missense_M2820V,Missense_M2820V exm630438 7 82581859 [T/C] NM_033026,NM_014510 PCLO,PCLO EXON Missense_A2804T,Missense_A2804T exm630441 7 82581922 [A/G] NM_033026,NM_014510 PCLO,PCLO EXON Missense_S2783P,Missense_S2783P exm630448 7 82582077 [C/G] NM_033026,NM_014510 PCLO,PCLO EXON Missense_R2731P,Missense_R2731P exm630453 7 82582200 [T/C] NM_033026,NM_014510 PCLO,PCLO EXON Missense_G2690D,Missense_G2690D exm630454 7 82582258 [T/G] NM_033026,NM_014510 PCLO,PCLO EXON Missense_T2671P,Missense_T2671P exm630455 7 82582272 [A/G] NM_033026,NM_014510 PCLO,PCLO EXON Missense_V2666A,Missense_V2666A exm630472 7 82582698 [A/T] NM_033026,NM_014510 PCLO,PCLO EXON Missense_Q2524L,Missense_Q2524L exm630478 7 82582846 [T/C] NM_033026,NM_014510 PCLO,PCLO EXON Missense_V2475I,Missense_V2475I exm630480 7 82582897 [T/C] NM_033026,NM_014510 PCLO,PCLO EXON Missense_A2458T,Missense_A2458T exm2155808 7 82582947 [T/C] NM_033026,NM_014510 PCLO,PCLO EXON Missense_K2441R,Missense_K2441R exm630482 7 82582956 [A/G] NM_033026,NM_014510 PCLO,PCLO EXON Missense_L2438P,Missense_L2438P exm630505 7 82583280 [T/C] NM_033026,NM_014510 PCLO,PCLO EXON Missense_R2330Q,Missense_R2330Q exm630508 7 82583388 [A/G] NM_033026,NM_014510 PCLO,PCLO EXON Missense_L2294P,Missense_L2294P exm630512 7 82583464 [T/C] NM_033026,NM_014510 PCLO,PCLO EXON Missense_M2269V,Missense_M2269V exm630513 7 82583469 [A/G] NM_033026,NM_014510 PCLO,PCLO EXON Missense_S2267F,Missense_S2267F exm630517 7 82583609 [A/C] NM_033026,NM_014510 PCLO,PCLO EXON Missense_F2220L,Missense_F2220L exm2155816 7 82583737 [A/G] NM_033026,NM_014510 PCLO,PCLO EXON Missense_P2178S,Missense_P2178S exm630525 7 82583817 [G/C] NM_033026,NM_014510 PCLO,PCLO EXON Missense_R2151T,Missense_R2151T exm630545 7 82584378 [A/G] NM_033026,NM_014510 PCLO,PCLO EXON Missense_T1964M,Missense_T1964M exm630555 7 82584553 [A/C] NM_033026,NM_014510 PCLO,PCLO EXON Missense_G1906C,Missense_G1906C exm630557 7 82584573 [T/G] NM_033026,NM_014510 PCLO,PCLO EXON Missense_Q1899P,Missense_Q1899P exm630558 7 82584574 [T/G] NM_033026,NM_014510 PCLO,PCLO EXON Missense_Q1899K,Missense_Q1899K exm630563 7 82584637 [T/C] NM_033026,NM_014510 PCLO,PCLO EXON Missense_I1878V,Missense_I1878V exm630579 7 82585002 [T/C] NM_033026,NM_014510 PCLO,PCLO EXON Missense_R1756H,Missense_R1756H exm630596 7 82585369 [T/C] NM_033026,NM_014510 PCLO,PCLO EXON Missense_D1634N,Missense_D1634N exm630600 7 82585444 [T/C] NM_033026,NM_014510 PCLO,PCLO EXON Missense_R1609G,Missense_R1609G exm2155828 7 82585543 [G/C] NM_033026,NM_014510 PCLO,PCLO EXON Missense_E1576Q,Missense_E1576Q exm630615 7 82585702 [A/G] NM_033026,NM_014510 PCLO,PCLO EXON Missense_P1523S,Missense_P1523S exm630617 7 82585758 [G/C] NM_033026,NM_014510 PCLO,PCLO EXON Missense_T1504S,Missense_T1504S exm630619 7 82585803 [G/C] NM_033026,NM_014510 PCLO,PCLO EXON Missense_S1489C,Missense_S1489C exm630623 7 82586041 [T/C] NM_033026,NM_014510 PCLO,PCLO EXON Missense_A1410T,Missense_A1410T exm2155833 7 82595219 [T/C] NM_033026,NM_014510 PCLO,PCLO EXON Missense_M1295I,Missense_M1295I exm630636 7 82595242 [A/C] NM_033026,NM_014510 PCLO,PCLO EXON Missense_G1288W,Missense_G1288W exm630640 7 82595361 [A/G] NM_033026,NM_014510 PCLO,PCLO EXON Missense_L1248P,Missense_L1248P exm2155836 7 82595427 [T/C] NM_033026,NM_014510 PCLO,PCLO EXON Missense_K1226R,Missense_K1226R exm630644 7 82595435 [T/A] NM_033026,NM_014510 PCLO,PCLO EXON Missense_E1223D,Missense_E1223D exm630659 7 82595653 [G/C] NM_033026,NM_014510 PCLO,PCLO EXON Missense_P1151A,Missense_P1151A exm630664 7 82595736 [T/C] NM_033026,NM_014510 PCLO,PCLO EXON Missense_R1123H,Missense_R1123H exm630666 7 82595742 [T/C] NM_033026,NM_014510 PCLO,PCLO EXON Missense_D1121G,Missense_D1121G exm630673 7 82763709 [A/G] NM_033026,NM_014510 PCLO,PCLO EXON Missense_P1053S,Missense_P1053S exm630682 7 82763982 [T/C] NM_033026,NM_014510 PCLO,PCLO EXON Missense_A962T,Missense_A962T exm630702 7 82764425 [G/C] NM_033026,NM_014510 PCLO,PCLO EXON Missense_S814T,Missense_S814T exm630705 7 82764631 [C/G] NM_033026,NM_014510 PCLO,PCLO EXON Missense_D745E,Missense_D745E exm630708 7 82764707 [A/G] NM_033026,NM_014510 PCLO,PCLO EXON Missense_A720V,Missense_A720V exm630710 7 82764791 [T/A] NM_033026,NM_014510 PCLO,PCLO EXON Missense_Q692L,Missense_Q692L exm630711 7 82764800 [A/G] NM_033026,NM_014510 PCLO,PCLO EXON Missense_A689V,Missense_A689V exm630714 7 82764875 [A/G] NM_033026,NM_014510 PCLO,PCLO EXON Missense_A664V,Missense_A664V exm630715 7 82764900 [A/C] NM_033026,NM_014510 PCLO,PCLO EXON Missense_S656A,Missense_S656A exm630716 7 82764924 [T/C] NM_033026,NM_014510 PCLO,PCLO EXON Missense_G648R,Missense_G648R exm630722 7 82784186 [A/G] NM_033026,NM_014510 PCLO,PCLO EXON Missense_L591F,Missense_L591F exm630725 7 82784287 [A/G] NM_033026,NM_014510 PCLO,PCLO EXON Missense_P557L,Missense_P557L exm630736 7 82784501 [A/G] NM_033026,NM_014510 PCLO,PCLO EXON Missense_P486S,Missense_P486S exm2246020 7 82784575 [A/G] NM_033026,NM_014510 PCLO,PCLO EXON Missense_A461V,Missense_A461V exm630738 7 82784588 [T/C] NM_033026,NM_014510 PCLO,PCLO EXON Missense_G457R,Missense_G457R exm630739 7 82784591 [A/G] NM_033026,NM_014510 PCLO,PCLO EXON Missense_P456S,Missense_P456S exm630743 7 82784660 [T/C] NM_033026,NM_014510 PCLO,PCLO EXON Missense_A433T,Missense_A433T exm630746 7 82784740 [T/C] NM_033026,NM_014510 PCLO,PCLO EXON Missense_G406E,Missense_G406E exm630754 7 82784832 [C/G] NM_033026,NM_014510 PCLO,PCLO EXON Missense_Q375H,Missense_Q375H exm630761 7 82784995 [T/C] NM_033026,NM_014510 PCLO,PCLO EXON Missense_H321R,Missense_H321R exm630762 7 82785014 [G/C] NM_033026,NM_014510 PCLO,PCLO EXON Missense_P315A,Missense_P315A exm630770 7 82785182 [G/C] NM_033026,NM_014510 PCLO,PCLO EXON Missense_Q259E,Missense_Q259E exm630773 7 82785271 [A/G] NM_033026,NM_014510 PCLO,PCLO EXON Missense_P229L,Missense_P229L exm2270641 7 82893679 [T/C] exm2270766 7 82992227 [T/C] exm630805 7 82997081 [T/C] NM_012431,NM_001178129 SEMA3E,SEMA3E EXON Missense_I717V,Missense_I657V exm630809 7 82997128 [A/C] NM_012431,NM_001178129 SEMA3E,SEMA3E EXON Missense_S701I,Missense_S641I exm630817 7 83014630 [A/G] NM_012431,NM_001178129 SEMA3E,SEMA3E EXON Missense_R619C,Missense_R559C exm630862 7 83034813 [C/G] NM_012431,NM_001178129 SEMA3E,SEMA3E EXON Synonymous_T317T,Synonymous_T257T exm630872 7 83036488 [T/G] NM_012431,NM_001178129 SEMA3E,SEMA3E EXON Missense_F246L,Missense_F186L exm630878 7 83037731 [C/G] NM_012431,NM_001178129 SEMA3E,SEMA3E EXON Missense_R208P,Missense_R148P exm630885 7 83047745 [A/G] NM_012431,NM_001178129 SEMA3E,SEMA3E EXON Missense_P171S,Missense_P111S exm630888 7 83095899 [G/C] NM_012431,NM_001178129 SEMA3E,SEMA3E EXON Missense_V119L,Missense_V59L exm630892 7 83098608 [A/G] NM_012431,NM_001178129 SEMA3E,SEMA3E EXON Missense_P96L,Missense_P36L exm2266438 7 83405454 [A/G] exm2270767 7 83471330 [T/C] exm630905 7 83590806 [A/G] NM_006080 SEMA3A EXON Missense_R733C exm630908 7 83590853 [A/G] NM_006080 SEMA3A EXON Missense_T717I exm630915 7 83591080 [C/G] NM_006080 SEMA3A EXON Missense_Q641H exm630917 7 83591133 [T/C] NM_006080 SEMA3A EXON Missense_D624N exm-rs797820 7 83609039 [A/G] NM_006080 SEMA3A Silent exm630935 7 83610743 [A/G] NM_006080 SEMA3A EXON Missense_R516W exm630941 7 83631273 [A/G] NM_006080 SEMA3A EXON Missense_R484W exm630943 7 83631341 [A/G] NM_006080 SEMA3A EXON Missense_V461A exm630950 7 83634712 [T/C] NM_006080 SEMA3A EXON Missense_V435I exm630954 7 83634762 [T/C] NM_006080 SEMA3A EXON Missense_N418S exm630956 7 83634817 [T/C] NM_006080 SEMA3A EXON Missense_I400V exm630962 7 83636783 [T/C] NM_006080 SEMA3A EXON Missense_M342I exm630972 7 83643592 [T/C] NM_006080 SEMA3A EXON Missense_R248H exm630985 7 83689870 [T/C] NM_006080 SEMA3A EXON Missense_N153S exm2270642 7 83710473 [T/C] NM_006080 SEMA3A Silent exm630987 7 83739848 [T/C] NM_006080 SEMA3A EXON Missense_A131T exm630996 7 83764159 [T/C] NM_006080 SEMA3A EXON Missense_K74R exm630998 7 83764184 [A/G] NM_006080 SEMA3A EXON Missense_R66W exm631007 7 83823846 [T/G] NM_006080 SEMA3A EXON Missense_R19S exm631009 7 83823894 [C/G] NM_006080 SEMA3A EXON Missense_W3C exm2258487 7 84256576 [T/C] exm631035 7 84628989 [T/G] NM_152754 SEMA3D EXON Missense_K701Q exm631041 7 84629063 [A/G] NM_152754 SEMA3D EXON Missense_I676T exm631048 7 84629153 [A/G] NM_152754 SEMA3D EXON Missense_T646M exm631059 7 84636183 [T/G] NM_152754 SEMA3D EXON Missense_P615T exm631067 7 84642151 [T/C] NM_152754 SEMA3D EXON Missense_R572H exm631070 7 84644454 [T/C] NM_152754 SEMA3D EXON Missense_A542T exm631090 7 84651806 [T/C] NM_152754 SEMA3D EXON Missense_T439A exm631093 7 84651849 [T/G] NM_152754 SEMA3D EXON Missense_H424Q exm2258488 7 84651891 [A/G] NM_152754 SEMA3D EXON Synonymous_T410T exm631095 7 84651907 [A/G] NM_152754 SEMA3D EXON Missense_P405L exm631100 7 84666348 [A/G] NM_152754 SEMA3D EXON Missense_S350P exm2246027 7 84685158 [T/C] NM_152754 SEMA3D EXON Missense_T246A exm631111 7 84694741 [A/G] NM_152754 SEMA3D EXON Synonymous_N239N exm631116 7 84697540 [T/C] NM_152754 SEMA3D EXON Missense_D186N exm2270768 7 84709356 [T/C] NM_152754 SEMA3D Silent exm631122 7 84710871 [A/G] NM_152754 SEMA3D EXON Missense_R113W exm2274242 7 84727155 [T/A] NM_152754 SEMA3D EXON Missense_L93H exm631130 7 84727240 [A/G] NM_152754 SEMA3D EXON Missense_S65P exm631133 7 84727273 [A/G] NM_152754 SEMA3D EXON Missense_L54F exm2266439 7 85004375 [A/G] exm2262367 7 85148963 [A/G] exm2270644 7 85572941 [T/G] exm2266440 7 86144698 [A/G] exm2264265 7 86372884 [A/C] NM_000840 GRM3 Silent exm631177 7 86468254 [A/G] NM_000840 GRM3 EXON Missense_G475D exm631194 7 86468787 [A/G] NM_000840 GRM3 EXON Missense_A653T exm631221 7 86479859 [T/G] NM_000840 GRM3 EXON Missense_Q855H exm631233 7 86521143 [A/G] NM_001142749,NM_152748,NR_030672 KIAA1324L,KIAA1324L,KIAA1324L EXON Missense_A976V,Missense_A809V,Silent exm631243 7 86526857 [A/G] NM_001142749,NM_152748,NR_030672 KIAA1324L,KIAA1324L,KIAA1324L EXON Missense_H884Y,Missense_H717Y,Silent exm631249 7 86536996 [T/A] NM_001142749,NM_152748,NR_030672 KIAA1324L,KIAA1324L,KIAA1324L EXON Missense_S850T,Missense_S683T,Silent exm631254 7 86537850 [A/G] NM_001142749,NM_152748,NR_030672 KIAA1324L,KIAA1324L,KIAA1324L EXON Missense_V790A,Missense_V623A,Silent exm631258 7 86539226 [G/C] NM_001142749,NM_152748,NR_030672 KIAA1324L,KIAA1324L,KIAA1324L EXON Missense_G754A,Missense_G587A,Silent exm631259 7 86539229 [A/G] NM_001142749,NM_152748,NR_030672 KIAA1324L,KIAA1324L,KIAA1324L EXON Missense_V753A,Missense_V586A,Silent exm631261 7 86539251 [A/C] NM_001142749,NM_152748,NR_030672 KIAA1324L,KIAA1324L,KIAA1324L EXON Missense_S746A,Missense_S579A,Silent exm631276 7 86542411 [A/G] NM_001142749,NM_152748,NR_030672 KIAA1324L,KIAA1324L,KIAA1324L EXON Missense_S614L,Missense_S447L,Silent exm631280 7 86542478 [T/G] NM_001142749,NM_152748,NR_030672 KIAA1324L,KIAA1324L,KIAA1324L EXON Missense_T592P,Missense_T425P,Silent exm631285 7 86547834 [A/G] NM_001142749,NM_152748,NR_030672 KIAA1324L,KIAA1324L,KIAA1324L EXON Missense_T506M,Missense_T339M,Silent exm631287 7 86548545 [A/G] NM_001142749,NM_152748,NR_030672 KIAA1324L,KIAA1324L,KIAA1324L EXON Missense_P494L,Missense_P327L,Silent exm631291 7 86548611 [T/C] NM_001142749,NM_152748,NR_030672 KIAA1324L,KIAA1324L,KIAA1324L EXON Missense_G472E,Missense_G305E,Silent exm631296 7 86554937 [A/G] NM_001142749,NM_152748,NR_030672 KIAA1324L,KIAA1324L,KIAA1324L EXON Missense_L436F,Missense_L269F,Silent exm631297 7 86554948 [A/G] NM_001142749,NM_152748,NR_030672 KIAA1324L,KIAA1324L,KIAA1324L EXON Missense_T432M,Missense_T265M,Silent exm631300 7 86554972 [T/G] NM_001142749,NM_152748,NR_030672 KIAA1324L,KIAA1324L,KIAA1324L EXON Missense_E424A,Missense_E257A,Silent exm631305 7 86567483 [T/C] NM_001142749,NM_152748,NR_030672 KIAA1324L,KIAA1324L,KIAA1324L EXON Missense_D350N,Missense_D183N,Silent exm-rs1767742 7 86625854 [T/G] NM_001142749,NR_030672 KIAA1324L,KIAA1324L Silent,Silent exm631346 7 86795802 [T/C] NM_001142326,NM_001142327,NR_024549,NR_024550,NM_021145 DMTF1,DMTF1,DMTF1,DMTF1,DMTF1 EXON Silent,Missense_A38V,Silent,Silent,Missense_A38V exm631351 7 86795921 [T/C] NM_001142326,NM_001142327,NR_024549,NR_024550,NM_021145 DMTF1,DMTF1,DMTF1,DMTF1,DMTF1 EXON Silent,Missense_L78F,Silent,Silent,Missense_L78F exm631355 7 86800324 [T/G] NM_001142326,NM_001142327,NR_024549,NR_024550,NM_021145 DMTF1,DMTF1,DMTF1,DMTF1,DMTF1 EXON Silent,Missense_D82E,Silent,Silent,Missense_D82E exm631358 7 86800364 [C/G] NM_001142326,NM_001142327,NR_024549,NR_024550,NM_021145 DMTF1,DMTF1,DMTF1,DMTF1,DMTF1 EXON Missense_A8P,Missense_A96P,Silent,Silent,Missense_A96P exm631388 7 86817448 [A/C] NM_001142326,NM_001142327,NR_024549,NR_024550,NM_021145 DMTF1,DMTF1,DMTF1,DMTF1,DMTF1 EXON Missense_K326N,Missense_K414N,Silent,Silent,Missense_K414N exm631389 7 86817456 [G/C] NM_001142326,NM_001142327,NR_024549,NR_024550,NM_021145 DMTF1,DMTF1,DMTF1,DMTF1,DMTF1 EXON Missense_P329R,Missense_P417R,Silent,Silent,Missense_P417R exm631390 7 86817459 [T/C] NM_001142326,NM_001142327,NR_024549,NR_024550,NM_021145 DMTF1,DMTF1,DMTF1,DMTF1,DMTF1 EXON Missense_T330M,Missense_T418M,Silent,Silent,Missense_T418M exm631394 7 86817539 [T/G] NM_001142326,NM_001142327,NR_024549,NR_024550,NM_021145 DMTF1,DMTF1,DMTF1,DMTF1,DMTF1 EXON Missense_A357S,Missense_A445S,Silent,Silent,Missense_A445S exm631395 7 86817543 [A/G] NM_001142326,NM_001142327,NR_024549,NR_024550,NM_021145 DMTF1,DMTF1,DMTF1,DMTF1,DMTF1 EXON Missense_R358H,Missense_R446H,Silent,Silent,Missense_R446H exm631398 7 86820275 [T/C] NM_001142326,NM_001142327,NR_024549,NR_024550,NM_021145 DMTF1,DMTF1,DMTF1,DMTF1,DMTF1 EXON Missense_P388S,Missense_P476S,Silent,Silent,Missense_P476S exm-rs11773103 7 86821980 [A/G] NM_001142326,NM_001142327,NR_024549,NR_024550,NM_021145 DMTF1,DMTF1,DMTF1,DMTF1,DMTF1 Silent,Silent,Silent,Silent,Silent exm631405 7 86822669 [T/C] NM_001142326,NM_001142327,NR_024549,NR_024550,NM_021145 DMTF1,DMTF1,DMTF1,DMTF1,DMTF1 EXON Synonymous_S462S,Synonymous_S550S,Silent,Silent,Synonymous_S550S exm631414 7 86823174 [T/C] NM_001142326,NM_001142327,NR_024549,NR_024550,NM_021145 DMTF1,DMTF1,DMTF1,DMTF1,DMTF1 EXON Missense_I507T,Missense_I595T,Silent,Silent,Missense_I595T exm2156113 7 86823221 [A/G] NM_001142326,NM_001142327,NR_024549,NR_024550,NM_021145 DMTF1,DMTF1,DMTF1,DMTF1,DMTF1 EXON Missense_T523A,Missense_T611A,Silent,Silent,Missense_T611A exm631421 7 86823333 [T/C] NM_001142326,NM_001142327,NR_024549,NR_024550,NM_021145 DMTF1,DMTF1,DMTF1,DMTF1,DMTF1 EXON Missense_M560T,Missense_M648T,Silent,Silent,Missense_M648T exm631424 7 86823401 [A/C] NM_001142326,NM_001142327,NR_024549,NR_024550,NM_021145 DMTF1,DMTF1,DMTF1,DMTF1,DMTF1 EXON Missense_S583R,Missense_S671R,Silent,Silent,Missense_S671R exm631432 7 86824406 [T/C] NM_001142326,NM_001142327,NR_024549,NR_024550,NM_021145 DMTF1,DMTF1,DMTF1,DMTF1,DMTF1 EXON Missense_P657S,Missense_P745S,Silent,Silent,Missense_P745S exm631455 7 86827302 [T/G] NM_024315 TMEM243 EXON Missense_F63L exm631468 7 86978418 [T/C] NM_001143935,NM_021151,NM_001243745 CROT,CROT,CROT EXON Nonsense_R12X,Nonsense_R12X,Nonsense_R12X exm631470 7 86978458 [T/C] NM_001143935,NM_021151,NM_001243745 CROT,CROT,CROT EXON Missense_V25A,Missense_V25A,Missense_V25A exm631471 7 86978500 [G/C] NM_001143935,NM_021151,NM_001243745 CROT,CROT,CROT Silent,Silent,Silent exm-rs7808249 7 86983715 [A/G] NM_001143935,NM_021151,NM_001243745 CROT,CROT,CROT Silent,Silent,Silent exm631475 7 86988538 [T/G] NM_001143935,NM_021151,NM_001243745 CROT,CROT,CROT EXON Missense_N72K,Missense_N44K,Missense_N44K exm2156140 7 86988581 [T/C] NM_001143935,NM_021151,NM_001243745 CROT,CROT,CROT EXON Nonsense_Q87X,Nonsense_Q59X,Nonsense_Q59X exm631480 7 86990714 [T/G] NM_001143935,NM_021151 CROT,CROT EXON Missense_E111D,Missense_E83D exm631481 7 86990746 [A/G] NM_001143935,NM_021151 CROT,CROT EXON Missense_R122H,Missense_R94H exm631485 7 86990819 [A/C] NM_001143935,NM_021151 CROT,CROT EXON Missense_E146D,Missense_E118D exm631489 7 86990873 [C/G] NM_001143935,NM_021151 CROT,CROT EXON Missense_W164C,Missense_W136C exm631493 7 86991099 [T/C] NM_001143935,NM_021151 CROT,CROT EXON Nonsense_R188X,Nonsense_R160X exm2274243 7 86998703 [T/C] NM_001143935,NM_021151 CROT,CROT EXON Missense_R215C,Missense_R187C exm631497 7 86998764 [A/G] NM_001143935,NM_021151 CROT,CROT EXON Missense_H235R,Missense_H207R exm631498 7 86998785 [T/C] NM_001143935,NM_021151 CROT,CROT EXON Missense_P242L,Missense_P214L exm631504 7 87005024 [T/C] NM_001143935,NM_021151 CROT,CROT EXON Nonsense_R273X,Nonsense_R245X exm631505 7 87005025 [A/G] NM_001143935,NM_021151 CROT,CROT EXON Missense_R273Q,Missense_R245Q exm631510 7 87005208 [A/G] NM_001143935,NM_021151 CROT,CROT EXON Missense_S300N,Missense_S272N exm631512 7 87005241 [T/C] NM_001143935,NM_021151 CROT,CROT EXON Missense_P311L,Missense_P283L exm631513 7 87005269 [C/G] NM_001143935,NM_021151 CROT,CROT EXON Missense_E320D,Missense_E292D exm631516 7 87006702 [A/G] NM_001143935,NM_021151 CROT,CROT EXON Missense_R333H,Missense_R305H exm2274244 7 87020962 [G/C] NM_001143935,NM_021151 CROT,CROT EXON Missense_E481D,Missense_E453D exm2156167 7 87021002 [T/C] NM_001143935,NM_021151 CROT,CROT EXON Nonsense_Q495X,Nonsense_Q467X exm631536 7 87021023 [G/C] NM_001143935,NM_021151 CROT,CROT EXON Missense_V502L,Missense_V474L exm631552 7 87022347 [A/G] NM_001143935,NM_021151 CROT,CROT EXON Missense_N589S,Missense_N561S exm631571 7 87032531 [T/C] NM_018849,NM_000443,NM_018850 ABCB4,ABCB4,ABCB4 EXON Missense_I1192V,Missense_I1185V,Missense_I1138V exm631578 7 87035614 [A/G] NM_018849,NM_000443,NM_018850 ABCB4,ABCB4,ABCB4 EXON Missense_T1166M,Missense_T1159M,Missense_T1112M exm631593 7 87035794 [T/C] NM_018849,NM_000443,NM_018850 ABCB4,ABCB4,ABCB4 EXON Missense_E1106G,Missense_E1099G,Missense_E1052G exm631596 7 87037381 [T/C] NM_018849,NM_000443,NM_018850 ABCB4,ABCB4,ABCB4 EXON Missense_R1084Q,Missense_R1084Q,Missense_R1037Q exm631625 7 87049345 [T/C] NM_018849,NM_000443,NM_018850 ABCB4,ABCB4,ABCB4 EXON Missense_R788Q,Missense_R788Q,Missense_R788Q exm631629 7 87049384 [A/G] NM_018849,NM_000443,NM_018850 ABCB4,ABCB4,ABCB4 EXON Missense_T775M,Missense_T775M,Missense_T775M exm631633 7 87051499 [T/G] NM_018849,NM_000443,NM_018850 ABCB4,ABCB4,ABCB4 EXON Missense_N752H,Missense_N752H,Missense_N752H exm631641 7 87053289 [A/G] NM_018849,NM_000443,NM_018850 ABCB4,ABCB4,ABCB4 EXON Missense_T715I,Missense_T715I,Missense_T715I exm631650 7 87056176 [T/C] NM_018849,NM_000443,NM_018850 ABCB4,ABCB4,ABCB4 EXON Missense_R652G,Missense_R652G,Missense_R652G exm2246039 7 87056178 [T/G] NM_018849,NM_000443,NM_018850 ABCB4,ABCB4,ABCB4 EXON Missense_T651N,Missense_T651N,Missense_T651N exm631660 7 87060844 [T/C] NM_018849,NM_000443,NM_018850 ABCB4,ABCB4,ABCB4 EXON Missense_R590Q,Missense_R590Q,Missense_R590Q exm631679 7 87072692 [A/C] NM_018849,NM_000443,NM_018850 ABCB4,ABCB4,ABCB4 EXON Missense_C433W,Missense_C433W,Missense_C433W exm631685 7 87074242 [A/G] NM_018849,NM_000443,NM_018850 ABCB4,ABCB4,ABCB4 EXON Missense_P352L,Missense_P352L,Missense_P352L exm631686 7 87076396 [A/G] NM_018849,NM_000443,NM_018850 ABCB4,ABCB4,ABCB4 EXON Missense_S320F,Missense_S320F,Missense_S320F exm631688 7 87076480 [T/C] NM_018849,NM_000443,NM_018850 ABCB4,ABCB4,ABCB4 EXON Missense_K292R,Missense_K292R,Missense_K292R exm631692 7 87079357 [T/C] NM_018849,NM_000443,NM_018850 ABCB4,ABCB4,ABCB4 EXON Missense_A254T,Missense_A254T,Missense_A254T exm631697 7 87080978 [G/C] NM_018849,NM_000443,NM_018850 ABCB4,ABCB4,ABCB4 EXON Missense_I223M,Missense_I223M,Missense_I223M exm631698 7 87082273 [T/C] NM_018849,NM_000443,NM_018850 ABCB4,ABCB4,ABCB4 EXON Missense_T175A,Missense_T175A,Missense_T175A exm2266542 7 87082292 [A/G] NM_018849,NM_000443,NM_018850 ABCB4,ABCB4,ABCB4 EXON Synonymous_N168N,Synonymous_N168N,Synonymous_N168N exm631706 7 87092143 [C/G] NM_018849,NM_000443,NM_018850 ABCB4,ABCB4,ABCB4 EXON Missense_L73V,Missense_L73V,Missense_L73V exm631711 7 87101971 [A/G] NM_018849,NM_000443,NM_018850 ABCB4,ABCB4,ABCB4 EXON Missense_T34M,Missense_T34M,Missense_T34M exm2246044 7 87135347 [T/C] NM_000927 ABCB1 EXON Missense_K1168E exm631739 7 87138659 [A/T] NM_000927 ABCB1 EXON Missense_S1141T exm631742 7 87138758 [A/G] NM_000927 ABCB1 EXON Missense_W1108R exm631743 7 87138760 [T/G] NM_000927 ABCB1 EXON Missense_Q1107P exm631744 7 87138764 [T/C] NM_000927 ABCB1 EXON Missense_V1106I exm631745 7 87144567 [T/C] NM_000927 ABCB1 EXON Missense_D1088N exm631755 7 87145841 [A/G] NM_000927 ABCB1 EXON Missense_T1023M exm2156249 7 87148697 [A/G] NM_000927 ABCB1 EXON Missense_R958W exm631765 7 87150102 [T/C] NM_000927 ABCB1 EXON Missense_V926I exm631775 7 87160618 [A/C] NM_000927 ABCB1 EXON Missense_S893A exm631781 7 87160789 [T/C] NM_000927 ABCB1 EXON Missense_I836V exm2156260 7 87168609 [A/G] NM_000927 ABCB1 EXON Missense_M791T exm631800 7 87174198 [A/G] NM_000927 ABCB1 EXON Missense_R669C exm631802 7 87174218 [A/C] NM_000927 ABCB1 EXON Missense_L662R exm631816 7 87175288 [T/C] NM_000927 ABCB1 EXON Missense_R593H exm631826 7 87179256 [A/G] NM_000927 ABCB1 EXON Missense_R489C exm631841 7 87179789 [A/C] NM_000927 ABCB1 EXON Missense_V407F exm631843 7 87179809 [T/C] NM_000927 ABCB1 EXON Missense_S400N exm631847 7 87180049 [T/C] NM_000927 ABCB1 EXON Missense_I369V exm631854 7 87190625 [T/C] NM_000927 ABCB1 EXON Missense_I261V exm631857 7 87190669 [A/G] NM_000927 ABCB1 EXON Missense_A246V exm631863 7 87195540 [T/C] NM_000927 ABCB1 EXON Missense_N183S exm631865 7 87196129 [T/C] NM_000927 ABCB1 EXON Missense_V168I exm631868 7 87196200 [A/G] NM_000927 ABCB1 EXON Missense_I144T exm631873 7 87214848 [A/G] NM_000927 ABCB1 EXON Missense_M89T exm631876 7 87214967 [A/C] NM_000927 ABCB1 EXON Missense_L49F exm2156295 7 87214970 [A/C] NM_000927 ABCB1 EXON Missense_K48N exm2266441 7 87220886 [A/G] NM_000927 ABCB1 Silent exm631879 7 87229440 [T/C] NM_000927 ABCB1 EXON Missense_N21D exm631892 7 87280182 [T/C] NM_000927,NM_138290,NM_001134406,NM_001134405 ABCB1,RUNDC3B,RUNDC3B,RUNDC3B EXON Silent,Missense_I56T,Missense_I56T,Missense_I56T exm631896 7 87329800 [T/G] NM_000927,NM_138290,NM_001134406,NM_001134405 ABCB1,RUNDC3B,RUNDC3B,RUNDC3B EXON Silent,Missense_C118F,Missense_C101F,Missense_C101F exm2156315 7 87369109 [T/G] NM_138290,NM_001134406,NM_001134405 RUNDC3B,RUNDC3B,RUNDC3B EXON Missense_R171I,Missense_R154I,Missense_R154I exm631923 7 87436780 [A/G] NM_138290,NM_001134406,NM_001134405 RUNDC3B,RUNDC3B,RUNDC3B EXON Missense_N367S,Silent,Missense_N350S exm631942 7 87466068 [T/G] NM_018843 SLC25A40 EXON Missense_N294T exm631943 7 87466120 [T/C] NM_018843 SLC25A40 EXON Missense_M277V exm631957 7 87473175 [A/C] NM_018843 SLC25A40 EXON Missense_M212R exm631960 7 87476339 [T/G] NM_018843 SLC25A40 EXON Missense_K186Q exm631962 7 87476351 [A/T] NM_018843 SLC25A40 EXON Missense_F182I exm631970 7 87477257 [A/G] NM_018843 SLC25A40 EXON Missense_T123I exm2156342 7 87479214 [T/C] NM_018843 SLC25A40 EXON Missense_S105N exm631971 7 87479242 [A/G] NM_018843 SLC25A40 EXON Nonsense_R96X exm631992 7 87514442 [A/G] NM_006716 DBF4 EXON Missense_H123R exm631996 7 87517349 [A/C] NM_006716 DBF4 EXON Missense_K191T exm632023 7 87533685 [T/G] NM_006716 DBF4 EXON Missense_V335F exm632025 7 87533707 [A/G] NM_006716 DBF4 EXON Missense_E342G exm632031 7 87536615 [G/C] NM_006716 DBF4 EXON Missense_D388H exm632034 7 87536634 [A/G] NM_006716 DBF4 EXON Missense_E394G exm632035 7 87536643 [T/G] NM_006716 DBF4 EXON Missense_F397C exm632063 7 87537455 [A/G] NM_006716 DBF4 EXON Missense_T668A exm2273435 7 87537533 [T/C] NM_006716 DBF4 EXON Silent exm632068 7 87563794 [T/G] NM_021723,NM_021722,NM_016351,NM_004194,NM_021721 ADAM22,ADAM22,ADAM22,ADAM22,ADAM22 EXON Missense_V5G,Missense_V5G,Missense_V5G,Missense_V5G,Missense_V5G exm632079 7 87564388 [A/G] NM_021723,NM_021722,NM_016351,NM_004194,NM_021721 ADAM22,ADAM22,ADAM22,ADAM22,ADAM22 EXON Missense_V45M,Missense_V45M,Missense_V45M,Missense_V45M,Missense_V45M exm-IND7-87431927 7 87593992 [I/D] NM_021723,NM_021722,NM_016351,NM_004194,NM_021721 ADAM22,ADAM22,ADAM22,ADAM22,ADAM22 exm632091 7 87704972 [T/C] NM_021723,NM_021722,NM_016351,NM_004194,NM_021721 ADAM22,ADAM22,ADAM22,ADAM22,ADAM22 EXON Missense_H119Y,Missense_H119Y,Missense_H119Y,Missense_H119Y,Missense_H119Y exm632092 7 87704999 [A/G] NM_021723,NM_021722,NM_016351,NM_004194,NM_021721 ADAM22,ADAM22,ADAM22,ADAM22,ADAM22 EXON Missense_E128K,Missense_E128K,Missense_E128K,Missense_E128K,Missense_E128K exm632094 7 87737533 [T/C] NM_021723,NM_021722,NM_016351,NM_004194,NM_021721 ADAM22,ADAM22,ADAM22,ADAM22,ADAM22 EXON Missense_P145S,Missense_P145S,Missense_P145S,Missense_P145S,Missense_P145S exm632100 7 87746103 [A/C] NM_021723,NM_021722,NM_016351,NM_004194,NM_021721 ADAM22,ADAM22,ADAM22,ADAM22,ADAM22 EXON Missense_E194A,Missense_E194A,Missense_E194A,Missense_E194A,Missense_E194A exm632102 7 87754915 [A/G] NM_021723,NM_021722,NM_016351,NM_004194,NM_021721 ADAM22,ADAM22,ADAM22,ADAM22,ADAM22 EXON Missense_V207I,Missense_V207I,Missense_V207I,Missense_V207I,Missense_V207I exm632103 7 87754955 [G/C] NM_021723,NM_021722,NM_016351,NM_004194,NM_021721 ADAM22,ADAM22,ADAM22,ADAM22,ADAM22 EXON Missense_P220R,Missense_P220R,Missense_P220R,Missense_P220R,Missense_P220R exm632104 7 87754974 [A/G] NM_021723,NM_021722,NM_016351,NM_004194,NM_021721 ADAM22,ADAM22,ADAM22,ADAM22,ADAM22 EXON Synonymous_Q226Q,Synonymous_Q226Q,Synonymous_Q226Q,Synonymous_Q226Q,Synonymous_Q226Q exm632110 7 87759715 [T/C] NM_021723,NM_021722,NM_016351,NM_004194,NM_021721 ADAM22,ADAM22,ADAM22,ADAM22,ADAM22 EXON Missense_R256W,Missense_R256W,Missense_R256W,Missense_R256W,Missense_R256W exm632125 7 87763669 [T/G] NM_021723,NM_021722,NM_016351,NM_004194,NM_021721 ADAM22,ADAM22,ADAM22,ADAM22,ADAM22 EXON Missense_V368G,Missense_V368G,Missense_V368G,Missense_V368G,Missense_V368G exm632141 7 87778333 [T/G] NM_021723,NM_021722,NM_016351,NM_004194,NM_021721 ADAM22,ADAM22,ADAM22,ADAM22,ADAM22 EXON Missense_D509E,Missense_D509E,Missense_D509E,Missense_D509E,Missense_D509E exm632149 7 87780346 [A/G] NM_021723,NM_021722,NM_016351,NM_004194,NM_021721 ADAM22,ADAM22,ADAM22,ADAM22,ADAM22 EXON Synonymous_Q539Q,Synonymous_Q539Q,Synonymous_Q539Q,Synonymous_Q539Q,Synonymous_Q539Q exm632158 7 87785303 [A/G] NM_021723,NM_021722,NM_016351,NM_004194,NM_021721 ADAM22,ADAM22,ADAM22,ADAM22,ADAM22 EXON Missense_G630E,Missense_G630E,Missense_G630E,Missense_G630E,Missense_G630E exm632159 7 87792353 [T/A] NM_021723,NM_021722,NM_016351,NM_004194,NM_021721 ADAM22,ADAM22,ADAM22,ADAM22,ADAM22 EXON Missense_D645V,Missense_D645V,Missense_D645V,Missense_D645V,Missense_D645V exm632166 7 87795223 [A/G] NM_021723,NM_021722,NM_016351,NM_004194,NM_021721 ADAM22,ADAM22,ADAM22,ADAM22,ADAM22 EXON Missense_N718S,Missense_N718S,Missense_N718S,Missense_N718S,Missense_N718S exm632167 7 87795237 [A/G] NM_021723,NM_021722,NM_016351,NM_004194,NM_021721 ADAM22,ADAM22,ADAM22,ADAM22,ADAM22 EXON Missense_T723A,Missense_T723A,Missense_T723A,Missense_T723A,Missense_T723A exm632183 7 87816004 [A/G] NM_021723,NM_021722,NM_016351 ADAM22,ADAM22,ADAM22 EXON Silent,Missense_G848E,Silent exm632187 7 87822534 [A/G] NM_021723,NM_021722,NM_016351 ADAM22,ADAM22,ADAM22 EXON Missense_V894M,Missense_V887M,Missense_V858M exm632188 7 87822541 [A/G] NM_021723,NM_021722,NM_016351 ADAM22,ADAM22,ADAM22 EXON Missense_R896Q,Missense_R889Q,Missense_R860Q exm632198 7 87837866 [A/G] NM_003130,NM_198901,NM_001256891,NM_001256892 SRI,SRI,SRI,SRI EXON Missense_R176W,Missense_R161W,Missense_R176W,Missense_R161W exm632204 7 87838735 [T/C] NM_003130,NM_198901,NM_001256891,NM_001256892 SRI,SRI,SRI,SRI EXON Missense_I144V,Missense_I129V,Missense_I144V,Missense_I129V exm632205 7 87839313 [T/C] NM_003130,NM_198901,NM_001256891,NM_001256892 SRI,SRI,SRI,SRI EXON Missense_A128T,Missense_A113T,Missense_A128T,Missense_A113T exm632207 7 87839361 [A/G] NM_003130,NM_198901,NM_001256891,NM_001256892 SRI,SRI,SRI,SRI EXON Missense_F112L,Missense_F97L,Missense_F112L,Missense_F97L exm632209 7 87839371 [A/G] NM_003130,NM_198901,NM_001256891,NM_001256892 SRI,SRI,SRI,SRI EXON Synonymous_H108H,Synonymous_H93H,Synonymous_H108H,Synonymous_H93H exm2258496 7 87839371 [A/G] NM_003130,NM_198901,NM_001256891,NM_001256892 SRI,SRI,SRI,SRI EXON Synonymous_H108H,Synonymous_H93H,Synonymous_H108H,Synonymous_H93H exm632234 7 87908744 [T/C] NM_001205315,NM_024636,NM_001205316 STEAP4,STEAP4,STEAP4 EXON Missense_R450H,Missense_R450H,Missense_R274H exm632240 7 87908861 [T/A] NM_001205315,NM_024636,NM_001205316 STEAP4,STEAP4,STEAP4 EXON Missense_N411I,Missense_N411I,Missense_N235I exm632250 7 87911975 [T/C] NM_001205315,NM_024636,NM_001205316 STEAP4,STEAP4,STEAP4 EXON Missense_G322E,Missense_G322E,Silent exm632251 7 87911987 [A/C] NM_001205315,NM_024636,NM_001205316 STEAP4,STEAP4,STEAP4 EXON Missense_R318L,Missense_R318L,Silent exm632258 7 87912110 [T/C] NM_001205315,NM_024636,NM_001205316 STEAP4,STEAP4,STEAP4 EXON Missense_R277H,Missense_R277H,Silent exm632265 7 87912399 [A/C] NM_001205315,NM_024636,NM_001205316 STEAP4,STEAP4,STEAP4 EXON Nonsense_G181X,Nonsense_G181X,Silent exm632272 7 87913148 [A/G] NM_001205315,NM_024636,NM_001205316 STEAP4,STEAP4,STEAP4 EXON Missense_A146V,Missense_A146V,Missense_A146V exm632276 7 87913221 [T/C] NM_001205315,NM_024636,NM_001205316 STEAP4,STEAP4,STEAP4 EXON Missense_A122T,Missense_A122T,Missense_A122T exm632280 7 87913349 [A/G] NM_001205315,NM_024636,NM_001205316 STEAP4,STEAP4,STEAP4 EXON Missense_I79T,Missense_I79T,Missense_I79T exm632281 7 87913361 [T/C] NM_001205315,NM_024636,NM_001205316 STEAP4,STEAP4,STEAP4 EXON Missense_G75D,Missense_G75D,Missense_G75D exm2266442 7 88075010 [A/G] exm2266543 7 88311428 [A/G] exm632294 7 88423502 [T/C] NM_181646,NM_152706 ZNF804B,C7orf62 EXON Silent,Missense_R252H exm632301 7 88423668 [T/C] NM_181646,NM_152706 ZNF804B,C7orf62 EXON Silent,Missense_G197S exm632302 7 88423700 [G/C] NM_181646,NM_152706 ZNF804B,C7orf62 EXON Silent,Missense_C186S exm632306 7 88423779 [T/C] NM_181646,NM_152706 ZNF804B,C7orf62 EXON Silent,Missense_D160N exm632310 7 88423881 [T/C] NM_181646,NM_152706 ZNF804B,C7orf62 EXON Silent,Missense_I126V exm632311 7 88423892 [G/C] NM_181646,NM_152706 ZNF804B,C7orf62 EXON Silent,Missense_T122R exm632313 7 88423916 [A/T] NM_181646,NM_152706 ZNF804B,C7orf62 EXON Silent,Missense_Y114F exm632319 7 88424025 [T/G] NM_181646,NM_152706 ZNF804B,C7orf62 EXON Silent,Missense_K78Q exm632324 7 88424115 [C/G] NM_181646,NM_152706 ZNF804B,C7orf62 EXON Silent,Missense_D48H exm632329 7 88424192 [A/G] NM_181646,NM_152706 ZNF804B,C7orf62 EXON Silent,Missense_F22S exm632330 7 88424221 [T/A] NM_181646,NM_152706 ZNF804B,C7orf62 EXON Silent,Missense_K12N exm-rs1406503 7 88560878 [G/C] NM_181646 ZNF804B Silent exm2266443 7 88765644 [A/G] NM_181646 ZNF804B Silent exm2246058 7 88962700 [A/C] NM_181646 ZNF804B EXON Missense_Y135S exm632349 7 88962827 [A/G] NM_181646 ZNF804B EXON Missense_I177M exm632351 7 88962831 [G/C] NM_181646 ZNF804B EXON Missense_D179H exm632358 7 88962973 [A/G] NM_181646 ZNF804B EXON Missense_K226R exm632361 7 88963039 [A/G] NM_181646 ZNF804B EXON Missense_C248Y exm632362 7 88963041 [A/T] NM_181646 ZNF804B EXON Missense_N249Y exm632369 7 88963123 [T/C] NM_181646 ZNF804B EXON Missense_T276I exm632376 7 88963299 [T/G] NM_181646 ZNF804B EXON Missense_D335Y exm632378 7 88963401 [T/C] NM_181646 ZNF804B EXON Missense_P369S exm632381 7 88963464 [A/C] NM_181646 ZNF804B EXON Missense_L390M exm632382 7 88963475 [T/G] NM_181646 ZNF804B EXON Missense_S393R exm632384 7 88963521 [A/G] NM_181646 ZNF804B EXON Missense_N409D exm632385 7 88963594 [T/C] NM_181646 ZNF804B EXON Missense_T433I exm632399 7 88963855 [A/C] NM_181646 ZNF804B EXON Missense_T520N exm632401 7 88963897 [T/C] NM_181646 ZNF804B EXON Missense_P534L exm632407 7 88964031 [A/G] NM_181646 ZNF804B EXON Missense_K579E exm632408 7 88964034 [A/G] NM_181646 ZNF804B EXON Missense_V580M exm632409 7 88964061 [A/C] NM_181646 ZNF804B EXON Missense_K589Q exm632413 7 88964162 [T/G] NM_181646 ZNF804B EXON Missense_D622E exm632416 7 88964196 [T/A] NM_181646 ZNF804B EXON Missense_F634I exm632419 7 88964226 [A/C] NM_181646 ZNF804B EXON Missense_P644T exm632420 7 88964227 [G/C] NM_181646 ZNF804B EXON Missense_P644R exm632423 7 88964280 [A/C] NM_181646 ZNF804B EXON Missense_T662P exm632425 7 88964343 [A/G] NM_181646 ZNF804B EXON Missense_S683G exm632426 7 88964350 [A/C] NM_181646 ZNF804B EXON Missense_T685N exm632433 7 88964538 [T/C] NM_181646 ZNF804B EXON Missense_H748Y exm632436 7 88964559 [T/C] NM_181646 ZNF804B EXON Missense_R755W exm632443 7 88964776 [A/G] NM_181646 ZNF804B EXON Missense_Y827C exm632445 7 88964791 [T/C] NM_181646 ZNF804B EXON Missense_S832L exm632449 7 88964815 [A/G] NM_181646 ZNF804B EXON Missense_S840N exm632458 7 88964957 [T/G] NM_181646 ZNF804B EXON Missense_R887S exm632462 7 88965021 [A/G] NM_181646 ZNF804B EXON Missense_E909K exm632463 7 88965036 [A/C] NM_181646 ZNF804B EXON Missense_N914H exm632464 7 88965040 [T/C] NM_181646 ZNF804B EXON Missense_T915I exm632465 7 88965048 [A/G] NM_181646 ZNF804B EXON Missense_G918R exm632466 7 88965061 [T/C] NM_181646 ZNF804B EXON Missense_P922L exm632468 7 88965108 [A/C] NM_181646 ZNF804B EXON Missense_Q938K exm632473 7 88965141 [A/G] NM_181646 ZNF804B EXON Missense_N949D exm632475 7 88965150 [A/G] NM_181646 ZNF804B EXON Missense_K952E exm632476 7 88965159 [T/G] NM_181646 ZNF804B EXON Missense_L955V exm632478 7 88965186 [A/G] NM_181646 ZNF804B EXON Missense_T964A exm632479 7 88965189 [A/G] NM_181646 ZNF804B EXON Missense_I965V exm632484 7 88965293 [T/G] NM_181646 ZNF804B EXON Missense_R999S exm632487 7 88965325 [A/G] NM_181646 ZNF804B EXON Missense_H1010R exm632494 7 88965547 [A/G] NM_181646 ZNF804B EXON Missense_G1084D exm632495 7 88965553 [T/C] NM_181646 ZNF804B EXON Missense_T1086I exm632497 7 88965609 [A/G] NM_181646 ZNF804B EXON Missense_M1105V exm632498 7 88965614 [T/G] NM_181646 ZNF804B EXON Missense_H1106Q exm632500 7 88965648 [T/G] NM_181646 ZNF804B EXON Missense_Y1118D exm632502 7 88965720 [G/C] NM_181646 ZNF804B EXON Missense_P1142A exm632513 7 88965873 [T/C] NM_181646 ZNF804B EXON Missense_S1193P exm632516 7 88965879 [A/G] NM_181646 ZNF804B EXON Missense_V1195I exm632518 7 88965912 [A/G] NM_181646 ZNF804B EXON Missense_I1206V exm632522 7 88965992 [T/G] NM_181646 ZNF804B EXON Missense_I1232M exm632529 7 88966135 [T/A] NM_181646 ZNF804B EXON Missense_H1280L exm632533 7 88966204 [T/C] NM_181646 ZNF804B EXON Missense_A1303V exm2262372 7 89118409 [T/C] exm2270647 7 89387363 [T/C] exm2264266 7 89623846 [A/C] exm632594 7 89790560 [A/G] NM_012449 STEAP1 EXON Missense_A176T exm632596 7 89790575 [T/A] NM_012449 STEAP1 EXON Missense_S181T exm2246063 7 89790588 [T/G] NM_012449 STEAP1 EXON Missense_R185M exm632598 7 89790591 [A/G] NM_012449 STEAP1 EXON Missense_R186Q exm2246064 7 89790599 [A/G] NM_012449 STEAP1 EXON Missense_R189G exm2246066 7 89790620 [T/G] NM_012449 STEAP1 EXON Missense_A196S exm632631 7 89854446 [T/G] NM_001244944,NM_001244945,NM_152999,NM_001040665,NM_001244946,NM_001040666 STEAP2,STEAP2,STEAP2,STEAP2,STEAP2,STEAP2 EXON Missense_F17C,Missense_F17C,Missense_F17C,Missense_F17C,Missense_F17C,Missense_F17C exm632643 7 89856336 [T/G] NM_001244944,NM_001244945,NM_152999,NM_001040665,NM_001244946,NM_001040666 STEAP2,STEAP2,STEAP2,STEAP2,STEAP2,STEAP2 EXON Missense_A182S,Missense_A182S,Missense_A182S,Missense_A182S,Missense_A182S,Missense_A182S exm632651 7 89856433 [A/G] NM_001244944,NM_001244945,NM_152999,NM_001040665,NM_001244946,NM_001040666 STEAP2,STEAP2,STEAP2,STEAP2,STEAP2,STEAP2 EXON Missense_G214E,Missense_G214E,Missense_G214E,Missense_G214E,Missense_G214E,Missense_G214E exm632652 7 89856453 [A/G] NM_001244944,NM_001244945,NM_152999,NM_001040665,NM_001244946,NM_001040666 STEAP2,STEAP2,STEAP2,STEAP2,STEAP2,STEAP2 EXON Missense_S221G,Missense_S221G,Missense_S221G,Missense_S221G,Missense_S221G,Missense_S221G exm632656 7 89856643 [A/G] NM_001244944,NM_001244945,NM_152999,NM_001040665,NM_001244946,NM_001040666 STEAP2,STEAP2,STEAP2,STEAP2,STEAP2,STEAP2 EXON Missense_Y284C,Missense_Y284C,Missense_Y284C,Missense_Y284C,Missense_Y284C,Missense_Y284C exm632674 7 89861822 [T/C] NM_001244944,NM_001244945,NM_152999,NM_001040665,NM_001244946,NM_001040666 STEAP2,STEAP2,STEAP2,STEAP2,STEAP2,STEAP2 EXON Missense_C453R,Silent,Missense_C453R,Missense_C453R,Silent,Silent exm632675 7 89861832 [A/G] NM_001244944,NM_001244945,NM_152999,NM_001040665,NM_001244946,NM_001040666 STEAP2,STEAP2,STEAP2,STEAP2,STEAP2,STEAP2 EXON Missense_R456Q,Silent,Missense_R456Q,Missense_R456Q,Silent,Silent exm632676 7 89861849 [T/A] NM_001244944,NM_001244945,NM_152999,NM_001040665,NM_001244946,NM_001040666 STEAP2,STEAP2,STEAP2,STEAP2,STEAP2,STEAP2 EXON Nonsense_K462X,Silent,Nonsense_K462X,Nonsense_K462X,Silent,Silent exm632677 7 89861890 [T/G] NM_001244944,NM_001244945,NM_152999,NM_001040665,NM_001244946,NM_001040666 STEAP2,STEAP2,STEAP2,STEAP2,STEAP2,STEAP2 EXON Missense_M475I,Silent,Missense_M475I,Missense_M475I,Silent,Silent exm632693 7 89874804 [A/C] NM_001039706,NM_001160138 C7orf63,C7orf63 EXON Missense_S22R,Missense_S22R exm632699 7 89884752 [A/G] NM_001039706,NM_001160138 C7orf63,C7orf63 EXON Missense_M46V,Missense_M46V exm632706 7 89891331 [A/G] NM_001039706,NM_001160138 C7orf63,C7orf63 EXON Missense_R106H,Missense_R106H exm632719 7 89900852 [T/C] NM_001039706,NM_001160138 C7orf63,C7orf63 EXON Missense_A182V,Missense_A164V exm632721 7 89900885 [T/C] NM_001039706,NM_001160138 C7orf63,C7orf63 EXON Missense_V193A,Missense_V175A exm632723 7 89900939 [T/C] NM_001039706,NM_001160138 C7orf63,C7orf63 EXON Missense_L211P,Missense_L193P exm632737 7 89903356 [T/C] NM_001039706,NM_001160138 C7orf63,C7orf63 EXON Missense_R306C,Missense_R288C exm632753 7 89909003 [A/G] NM_001039706,NM_001160138 C7orf63,C7orf63 EXON Missense_G390S,Missense_G372S exm632759 7 89912209 [T/C] NM_001039706,NM_001160138 C7orf63,C7orf63 EXON Missense_P459L,Missense_P441L exm632764 7 89912301 [A/G] NM_001039706,NM_001160138 C7orf63,C7orf63 EXON Missense_V490M,Missense_V472M exm2246072 7 89929275 [A/G] NM_001039706,NM_001160138 C7orf63,C7orf63 EXON Missense_G651E,Missense_G633E exm632793 7 89929350 [A/G] NM_001039706,NM_001160138 C7orf63,C7orf63 EXON Missense_R676H,Missense_R658H exm2246073 7 89933398 [T/G] NM_001039706,NM_001160138 C7orf63,C7orf63 EXON Missense_I722M,Missense_I704M exm632808 7 89934060 [T/C] NM_001039706,NM_001160138 C7orf63,C7orf63 EXON Missense_F731L,Missense_F713L exm632816 7 89937092 [T/C] NM_001039706,NM_001160138 C7orf63,C7orf63 EXON Missense_T825M,Missense_T807M exm632820 7 89937168 [A/G] NM_001039706,NM_001160138 C7orf63,C7orf63 EXON Synonymous_K850K,Synonymous_K832K exm632825 7 89938588 [C/G] NM_001039706,NM_001160138 C7orf63,C7orf63 EXON Missense_S854R,Missense_S836R exm632826 7 89938628 [T/C] NM_001039706,NM_001160138 C7orf63,C7orf63 EXON Nonsense_R868X,Nonsense_R850X exm632828 7 89938653 [A/G] NM_001039706,NM_001160138 C7orf63,C7orf63 EXON Missense_Q876R,Missense_Q858R exm632829 7 89938680 [T/C] NM_001039706,NM_001160138 C7orf63,C7orf63 EXON Missense_T885M,Missense_T867M exm632833 7 89939394 [A/G] NM_001039706,NM_001160138 C7orf63,C7orf63 EXON Missense_G890R,Missense_G872R exm632839 7 89939448 [A/G] NM_001039706,NM_001160138 C7orf63,C7orf63 EXON Missense_D908N,Missense_D890N exm2246075 7 89939481 [T/C] NM_001039706,NM_001160138 C7orf63,C7orf63 EXON Nonsense_R919X,Nonsense_R901X exm632868 7 89982260 [T/C] NM_001042717,NM_033107 GTPBP10,GTPBP10 EXON Missense_L55S,Missense_L55S exm632874 7 89983777 [T/G] NM_001042717,NM_033107 GTPBP10,GTPBP10 EXON Silent,Missense_S78I exm632878 7 89984409 [A/G] NM_001042717,NM_033107 GTPBP10,GTPBP10 EXON Silent,Missense_N110S exm632879 7 89984417 [A/G] NM_001042717,NM_033107 GTPBP10,GTPBP10 EXON Silent,Missense_N113D exm2246076 7 89984511 [A/G] NM_001042717,NM_033107 GTPBP10,GTPBP10 EXON Silent,Missense_D144G exm632884 7 90001496 [C/G] NM_001042717,NM_033107 GTPBP10,GTPBP10 EXON Missense_L85F,Missense_L164F exm632886 7 90001521 [A/C] NM_001042717,NM_033107 GTPBP10,GTPBP10 EXON Missense_P94T,Missense_P173T exm632890 7 90006840 [T/C] NM_001042717,NM_033107 GTPBP10,GTPBP10 EXON Missense_P125L,Missense_P204L exm632905 7 90014380 [A/T] NM_001042717,NM_033107 GTPBP10,GTPBP10 EXON Nonsense_L280X,Nonsense_L359X exm632906 7 90014408 [A/G] NM_001042717,NM_033107 GTPBP10,GTPBP10 EXON Missense_M289I,Missense_M368I exm632931 7 90042282 [A/G] NM_012129,NM_001185072,NM_001185073 CLDN12,CLDN12,CLDN12 EXON Missense_M98V,Missense_M98V,Missense_M98V exm632949 7 90042657 [T/C] NM_012129,NM_001185072,NM_001185073 CLDN12,CLDN12,CLDN12 EXON Missense_P223S,Missense_P223S,Missense_P223S exm2270648 7 90218346 [T/G] exm632974 7 90356116 [A/G] NM_012395 CDK14 EXON Missense_S102N exm632991 7 90546947 [G/C] NM_012395 CDK14 EXON Missense_S227C exm633005 7 90613546 [A/G] NM_012395 CDK14 EXON Missense_R326Q exm633019 7 90747439 [T/C] NM_012395 CDK14 EXON Missense_R434W exm633020 7 90747440 [A/G] NM_012395 CDK14 EXON Missense_R434Q exm2262374 7 90758236 [A/G] NM_012395 CDK14 Silent exm2266444 7 90866589 [A/G] exm633083 7 90895685 [T/G] NM_003505 FZD1 EXON Missense_V497G exm633101 7 90896078 [A/G] NM_003505 FZD1 EXON Missense_N628S exm2266445 7 91054340 [A/G] exm2266545 7 91171767 [A/G] exm633121 7 91503197 [A/C] NM_006980 MTERF EXON Missense_G304V exm633123 7 91503228 [T/C] NM_006980 MTERF EXON Missense_A294T exm633127 7 91503288 [T/C] NM_006980 MTERF EXON Missense_I274V exm2156703 7 91503317 [T/C] NM_006980 MTERF EXON Missense_N264S exm633130 7 91503356 [T/C] NM_006980 MTERF EXON Missense_R251Q exm633131 7 91503384 [G/C] NM_006980 MTERF EXON Missense_P242A exm633133 7 91503417 [T/C] NM_006980 MTERF EXON Missense_A231T exm633138 7 91503491 [T/C] NM_006980 MTERF EXON Missense_N206S exm633140 7 91503533 [A/C] NM_006980 MTERF EXON Missense_C192F exm633142 7 91503554 [A/G] NM_006980 MTERF EXON Missense_S185L exm633145 7 91503687 [T/C] NM_006980 MTERF EXON Missense_K141E exm2246082 7 91503702 [A/G] NM_006980 MTERF EXON Missense_P136S exm2156710 7 91503839 [T/C] NM_006980 MTERF EXON Missense_R90K exm633154 7 91503872 [A/C] NM_006980 MTERF EXON Nonsense_L79X exm633157 7 91503914 [A/G] NM_006980 MTERF EXON Missense_T65I exm2156715 7 91504058 [T/C] NM_006980 MTERF EXON Missense_Y17C exm633169 7 91570454 [A/C] NM_147185,NM_005751 AKAP9,AKAP9 EXON Missense_K14T,Missense_K14T exm633172 7 91603056 [T/C] NM_147185,NM_005751 AKAP9,AKAP9 EXON Missense_S27L,Missense_S27L exm633174 7 91603115 [T/C] NM_147185,NM_005751 AKAP9,AKAP9 EXON Missense_H47Y,Missense_H47Y exm633175 7 91603134 [A/G] NM_147185,NM_005751 AKAP9,AKAP9 EXON Missense_H53R,Missense_H53R exm633179 7 91603264 [T/G] NM_147185,NM_005751 AKAP9,AKAP9 EXON Missense_E96D,Missense_E96D exm2246083 7 91622234 [A/T] NM_147185,NM_005751 AKAP9,AKAP9 EXON Missense_E147D,Missense_E147D exm633182 7 91622249 [A/C] NM_147185,NM_005751 AKAP9,AKAP9 EXON Missense_D152E,Missense_D152E exm633183 7 91622257 [A/C] NM_147185,NM_005751 AKAP9,AKAP9 EXON Missense_T155N,Missense_T155N exm633184 7 91622303 [G/C] NM_147185,NM_005751 AKAP9,AKAP9 EXON Missense_E170D,Missense_E170D exm633185 7 91622347 [A/G] NM_147185,NM_005751 AKAP9,AKAP9 EXON Missense_Y185C,Missense_Y185C exm633197 7 91625067 [A/G] NM_147185,NM_005751 AKAP9,AKAP9 EXON Missense_T295A,Missense_T295A exm633204 7 91630330 [A/G] NM_147185,NM_005751 AKAP9,AKAP9 EXON Missense_V367M,Missense_V367M exm633208 7 91630389 [A/T] NM_147185,NM_005751 AKAP9,AKAP9 EXON Missense_K386N,Missense_K386N exm633212 7 91630457 [A/C] NM_147185,NM_005751 AKAP9,AKAP9 EXON Missense_H409P,Missense_H409P exm633218 7 91630532 [A/G] NM_147185,NM_005751 AKAP9,AKAP9 EXON Missense_R434Q,Missense_R434Q exm633219 7 91630565 [T/C] NM_147185,NM_005751 AKAP9,AKAP9 EXON Missense_I445T,Missense_I445T exm633220 7 91630603 [C/G] NM_147185,NM_005751 AKAP9,AKAP9 EXON Missense_A458P,Missense_A458P exm633222 7 91630620 [T/G] NM_147185,NM_005751 AKAP9,AKAP9 EXON Missense_M463I,Missense_M463I exm633223 7 91630628 [A/G] NM_147185,NM_005751 AKAP9,AKAP9 EXON Missense_R466Q,Missense_R466Q exm2156734 7 91630873 [A/G] NM_147185,NM_005751 AKAP9,AKAP9 EXON Missense_R548G,Missense_R548G exm633232 7 91630882 [A/G] NM_147185,NM_005751 AKAP9,AKAP9 EXON Missense_I551V,Missense_I551V exm633241 7 91631167 [A/G] NM_147185,NM_005751 AKAP9,AKAP9 EXON Missense_I646V,Missense_I646V exm633245 7 91631440 [A/G] NM_147185,NM_005751 AKAP9,AKAP9 EXON Missense_E737K,Missense_E737K exm633248 7 91631542 [A/G] NM_147185,NM_005751 AKAP9,AKAP9 EXON Missense_A771T,Missense_A771T exm633252 7 91631656 [A/G] NM_147185,NM_005751 AKAP9,AKAP9 EXON Missense_I809V,Missense_I809V exm633259 7 91631812 [T/C] NM_147185,NM_005751 AKAP9,AKAP9 EXON Missense_Y861H,Missense_Y861H exm2156741 7 91632424 [A/G] NM_147185,NM_005751 AKAP9,AKAP9 EXON Missense_S1065G,Missense_S1065G exm633289 7 91641753 [C/G] NM_147185,NM_005751 AKAP9,AKAP9 EXON Missense_R1110T,Missense_R1110T exm633290 7 91641854 [T/C] NM_147185,NM_005751 AKAP9,AKAP9 EXON Missense_C1144R,Missense_C1144R exm633300 7 91643610 [A/G] NM_147185,NM_005751 AKAP9,AKAP9 EXON Missense_A1194T,Missense_A1194T exm633303 7 91646406 [A/G] NM_147185,NM_005751 AKAP9,AKAP9 EXON Missense_R1276Q,Missense_R1276Q exm633307 7 91651648 [A/C] NM_147185,NM_005751 AKAP9,AKAP9 EXON Missense_T1312P,Missense_T1312P exm633314 7 91652302 [C/G] NM_147185,NM_005751 AKAP9,AKAP9 EXON Missense_S1376T,Missense_S1376T exm633317 7 91659223 [T/C] NM_147185,NM_005751 AKAP9,AKAP9 EXON Missense_S1388L,Missense_S1388L exm633320 7 91659250 [A/G] NM_147185,NM_005751 AKAP9,AKAP9 EXON Missense_Q1397R,Missense_Q1397R exm633322 7 91659259 [T/C] NM_147185,NM_005751 AKAP9,AKAP9 EXON Missense_M1400T,Missense_M1400T exm2246086 7 91660839 [T/G] NM_147185,NM_005751 AKAP9,AKAP9 EXON Missense_F1420C,Missense_F1420C exm633330 7 91667736 [A/G] NM_147185,NM_005751 AKAP9,AKAP9 EXON Missense_I1448V,Missense_I1448V exm633331 7 91667913 [G/C] NM_147185,NM_005751 AKAP9,AKAP9 EXON Missense_D1507H,Missense_D1507H exm633343 7 91670121 [A/G] NM_147185,NM_005751 AKAP9,AKAP9 EXON Missense_R1609K,Missense_R1609K exm633344 7 91670136 [A/G] NM_147185,NM_005751 AKAP9,AKAP9 EXON Missense_R1614Q,Missense_R1614Q exm633352 7 91671477 [T/C] NM_147185,NM_005751 AKAP9,AKAP9 EXON Missense_R1679C,Missense_R1679C exm633353 7 91671490 [T/C] NM_147185,NM_005751 AKAP9,AKAP9 EXON Missense_T1683M,Missense_T1683M exm633359 7 91674405 [T/C] NM_147185,NM_005751 AKAP9,AKAP9 EXON Missense_I1749T,Missense_I1749T exm633364 7 91682040 [T/G] NM_147185,NM_005751 AKAP9,AKAP9 EXON Missense_V1790G,Missense_V1790G exm633365 7 91682075 [A/G] NM_147185,NM_005751 AKAP9,AKAP9 EXON Missense_D1802N,Missense_D1802N exm633366 7 91682099 [A/G] NM_147185,NM_005751 AKAP9,AKAP9 EXON Missense_M1810V,Missense_M1810V exm2156769 7 91682214 [C/G] NM_147185,NM_005751 AKAP9,AKAP9 EXON Missense_S1848C,Missense_S1848C exm633382 7 91690640 [A/T] NM_147185,NM_005751 AKAP9,AKAP9 EXON Missense_T1890S,Missense_T1890S exm633383 7 91690652 [A/G] NM_147185,NM_005751 AKAP9,AKAP9 EXON Missense_K1894E,Missense_K1894E exm2274246 7 91690697 [A/G] NM_147185,NM_005751 AKAP9,AKAP9 EXON Missense_A1909T,Missense_A1909T exm633397 7 91694604 [A/G] NM_147185,NM_005751 AKAP9,AKAP9 EXON Missense_E2013K,Missense_E2013K exm633399 7 91694701 [A/G] NM_147185,NM_005751 AKAP9,AKAP9 EXON Missense_N2045S,Missense_N2045S exm633401 7 91694743 [A/G] NM_147185,NM_005751 AKAP9,AKAP9 EXON Missense_E2059G,Missense_E2059G exm633408 7 91700267 [T/C] NM_147185,NM_005751 AKAP9,AKAP9 EXON Missense_S2178P,Missense_S2186P exm633411 7 91706283 [T/C] NM_147185,NM_005751 AKAP9,AKAP9 EXON Missense_R2235C,Missense_R2243C exm633423 7 91708613 [A/G] NM_147185,NM_005751 AKAP9,AKAP9 EXON Missense_D2381G,Missense_D2389G exm633425 7 91708655 [A/G] NM_147185,NM_005751 AKAP9,AKAP9 EXON Missense_E2395G,Missense_E2403G exm633427 7 91708722 [A/G] NM_147185,NM_005751 AKAP9,AKAP9 EXON Synonymous_Q2417Q,Synonymous_Q2425Q exm2258506 7 91708722 [A/G] NM_147185,NM_005751 AKAP9,AKAP9 EXON Synonymous_Q2417Q,Synonymous_Q2425Q exm633435 7 91708898 [A/G] NM_147185,NM_005751 AKAP9,AKAP9 EXON Missense_K2476R,Missense_K2484R exm633436 7 91708935 [T/G] NM_147185,NM_005751 AKAP9,AKAP9 EXON Missense_N2488K,Missense_N2496K exm633442 7 91709085 [A/G] NM_147185,NM_005751 AKAP9,AKAP9 EXON Missense_I2538M,Missense_I2546M exm633447 7 91709333 [T/C] NM_147185,NM_005751 AKAP9,AKAP9 EXON Missense_V2621A,Missense_V2629A exm633452 7 91711918 [A/C] NM_147185,NM_005751 AKAP9,AKAP9 EXON Missense_T2693N,Missense_T2701N exm633460 7 91712609 [A/C] NM_147185,NM_005751 AKAP9,AKAP9 EXON Missense_K2754N,Missense_K2762N exm633461 7 91712698 [A/G] NM_147185,NM_005751 AKAP9,AKAP9 EXON Missense_N2784S,Missense_N2792S exm633465 7 91712808 [A/G] NM_147185,NM_005751 AKAP9,AKAP9 EXON Missense_E2821K,Missense_E2829K exm633473 7 91713963 [A/G] NM_147185,NM_005751 AKAP9,AKAP9 EXON Missense_I2878V,Missense_I2886V exm633476 7 91713984 [G/C] NM_147185,NM_005751 AKAP9,AKAP9 EXON Missense_D2885H,Missense_D2893H exm633481 7 91714911 [T/C] NM_147185,NM_005751 AKAP9,AKAP9 EXON Missense_P2971S,Missense_P2979S exm633483 7 91714951 [T/C] NM_147185,NM_005751 AKAP9,AKAP9 EXON Missense_S2984L,Missense_S2992L exm633488 7 91715609 [A/G] NM_147185,NM_005751 AKAP9,AKAP9 EXON Missense_Q3023R,Missense_Q3031R exm633489 7 91715644 [A/G] NM_147185,NM_005751 AKAP9,AKAP9 EXON Missense_A3035T,Missense_A3043T exm633490 7 91715654 [A/G] NM_147185,NM_005751 AKAP9,AKAP9 EXON Missense_R3038Q,Missense_R3046Q exm633505 7 91722498 [A/G] NM_147185,NM_005751 AKAP9,AKAP9 EXON Missense_E3141G,Missense_E3149G exm633518 7 91726036 [A/G] NM_147185,NM_005751 AKAP9,AKAP9 EXON Missense_R3247G,Missense_R3255G exm633519 7 91726103 [T/C] NM_147185,NM_005751 AKAP9,AKAP9 EXON Missense_I3269T,Missense_I3277T exm633525 7 91726202 [A/G] NM_147185,NM_005751 AKAP9,AKAP9 EXON Missense_R3302Q,Missense_R3310Q exm633529 7 91726243 [A/G] NM_147185,NM_005751 AKAP9,AKAP9 EXON Missense_A3316T,Missense_A3324T exm633534 7 91726391 [A/C] NM_147185,NM_005751 AKAP9,AKAP9 EXON Missense_S3365Y,Missense_S3373Y exm633541 7 91726527 [C/G] NM_147185,NM_005751 AKAP9,AKAP9 EXON Missense_Q3410H,Missense_Q3418H exm633543 7 91726604 [A/G] NM_147185,NM_005751 AKAP9,AKAP9 EXON Missense_Q3436R,Missense_Q3444R exm633544 7 91726627 [A/G] NM_147185,NM_005751 AKAP9,AKAP9 EXON Missense_E3444K,Missense_E3452K exm2264243 7 91726927 [A/C] NM_147185,NM_005751 AKAP9,AKAP9 EXON Synonymous_R3468R,Synonymous_R3476R exm633549 7 91726960 [A/G] NM_147185,NM_005751 AKAP9,AKAP9 EXON Missense_E3479K,Missense_E3487K exm633552 7 91727479 [T/A] NM_147185,NM_005751 AKAP9,AKAP9 EXON Missense_D3547V,Missense_D3555V exm633553 7 91727487 [A/G] NM_147185,NM_005751 AKAP9,AKAP9 EXON Missense_I3550V,Missense_I3558V exm633560 7 91729127 [A/G] NM_147185,NM_005751 AKAP9,AKAP9 EXON Missense_M3606V,Missense_M3614V exm633562 7 91729145 [A/G] NM_147185,NM_005751 AKAP9,AKAP9 EXON Missense_I3612V,Missense_I3620V exm2156834 7 91731945 [A/G] NM_147185,NM_005751 AKAP9,AKAP9 EXON Missense_R3704Q,Missense_R3712Q exm633569 7 91732035 [G/C] NM_147185,NM_005751 AKAP9,AKAP9 EXON Missense_R3734P,Missense_R3742P exm633572 7 91732044 [T/G] NM_147185,NM_005751 AKAP9,AKAP9 EXON Missense_G3737V,Missense_G3745V exm633576 7 91732083 [A/G] NM_147185,NM_005751 AKAP9,AKAP9 EXON Missense_R3750H,Missense_R3758H exm633577 7 91732101 [A/G] NM_147185,NM_005751 AKAP9,AKAP9 EXON Missense_R3756K,Missense_R3764K exm633578 7 91732107 [A/G] NM_147185,NM_005751 AKAP9,AKAP9 EXON Missense_R3758Q,Missense_R3766Q exm633579 7 91732110 [T/C] NM_147185,NM_005751 AKAP9,AKAP9 EXON Missense_S3759L,Missense_S3767L exm633583 7 91735009 [A/G] NM_147185,NM_005751 AKAP9,AKAP9 EXON Missense_R3775Q,Missense_R3783Q exm633585 7 91735021 [A/G] NM_147185,NM_005751 AKAP9,AKAP9 EXON Missense_R3779Q,Missense_R3787Q exm633591 7 91736709 [T/C] NM_147185,NM_005751 AKAP9,AKAP9 EXON Missense_I3832T,Missense_I3840T exm2274247 7 91739445 [T/C] NM_147185,NM_005751 AKAP9,AKAP9 EXON Missense_T3891I,Missense_T3899I exm2156845 7 91739463 [T/C] NM_147185,NM_005751 AKAP9,AKAP9 EXON Missense_M3897T,Missense_M3905T exm633614 7 91747869 [T/C] NM_000786,NM_001146152 CYP51A1,CYP51A1 EXON Missense_I383V,Missense_I278V exm633615 7 91747904 [A/C] NM_000786,NM_001146152 CYP51A1,CYP51A1 EXON Missense_R371L,Missense_R266L exm633627 7 91753166 [A/G] NM_000786,NM_001146152 CYP51A1,CYP51A1 EXON Missense_R258C,Missense_R153C exm633635 7 91756903 [T/C] NM_000786,NM_001146152 CYP51A1,CYP51A1 EXON Missense_I171V,Missense_I66V exm633639 7 91758195 [A/G] NM_000786,NM_001146152 CYP51A1,CYP51A1 EXON Missense_P156L,Missense_P51L exm633649 7 91761116 [A/G] NM_000786,NM_001146152 CYP51A1,CYP51A1 EXON Missense_I88T,Silent exm633652 7 91761159 [T/C] NM_000786,NM_001146152 CYP51A1,CYP51A1 EXON Missense_I74V,Silent exm633658 7 91774219 [A/G] NM_001161528 LRRD1 EXON Missense_R856C exm633662 7 91779907 [A/C] NM_001161528 LRRD1 EXON Missense_C740F exm633664 7 91779971 [T/G] NM_001161528 LRRD1 EXON Missense_I719L exm633665 7 91780003 [T/G] NM_001161528 LRRD1 EXON Missense_N708T exm633674 7 91793211 [A/T] NM_001161528 LRRD1 EXON Missense_C436S exm633688 7 91794023 [T/A] NM_001161528 LRRD1 EXON Missense_Y165F exm633693 7 91794308 [A/G] NM_001161528 LRRD1 EXON Missense_S70F exm633700 7 91830054 [A/G] NM_194456,NM_004912,NM_001013406,NM_194454,NM_194455 KRIT1,KRIT1,KRIT1,KRIT1,KRIT1 EXON Missense_S736L,Missense_S736L,Missense_S688L,Missense_S736L,Missense_S736L exm633707 7 91830719 [T/G] NM_194456,NM_004912,NM_001013406,NM_194454,NM_194455 KRIT1,KRIT1,KRIT1,KRIT1,KRIT1 EXON Missense_K682Q,Missense_K682Q,Missense_K634Q,Missense_K682Q,Missense_K682Q exm633719 7 91842666 [T/C] NM_194456,NM_004912,NM_001013406,NM_194454,NM_194455 KRIT1,KRIT1,KRIT1,KRIT1,KRIT1 EXON Missense_R623H,Missense_R623H,Missense_R575H,Missense_R623H,Missense_R623H exm633721 7 91842696 [T/C] NM_194456,NM_004912,NM_001013406,NM_194454,NM_194455 KRIT1,KRIT1,KRIT1,KRIT1,KRIT1 EXON Missense_G613D,Missense_G613D,Missense_G565D,Missense_G613D,Missense_G613D exm633738 7 91851333 [T/G] NM_194456,NM_004912,NM_001013406,NM_194454,NM_194455 KRIT1,KRIT1,KRIT1,KRIT1,KRIT1 EXON Missense_Q482H,Missense_Q482H,Missense_Q434H,Missense_Q482H,Missense_Q482H exm633747 7 91855043 [A/C] NM_194456,NM_004912,NM_001013406,NM_194454,NM_194455 KRIT1,KRIT1,KRIT1,KRIT1,KRIT1 EXON Missense_I415M,Missense_I415M,Missense_I367M,Missense_I415M,Missense_I415M exm633752 7 91855923 [A/G] NM_194456,NM_004912,NM_001013406,NM_194454,NM_194455 KRIT1,KRIT1,KRIT1,KRIT1,KRIT1 EXON Missense_L355F,Missense_L355F,Missense_L307F,Missense_L355F,Missense_L355F exm633754 7 91863836 [A/G] NM_194456,NM_004912,NM_001013406,NM_194454,NM_194455 KRIT1,KRIT1,KRIT1,KRIT1,KRIT1 EXON Missense_R306C,Missense_R306C,Silent,Missense_R306C,Missense_R306C exm633765 7 91864857 [T/C] NM_194456,NM_004912,NM_001013406,NM_194454,NM_194455 KRIT1,KRIT1,KRIT1,KRIT1,KRIT1 EXON Missense_T197A,Missense_T197A,Missense_T197A,Missense_T197A,Missense_T197A exm633774 7 91867034 [A/C] NM_194456,NM_004912,NM_001013406,NM_194454,NM_194455 KRIT1,KRIT1,KRIT1,KRIT1,KRIT1 EXON Missense_G101V,Missense_G101V,Missense_G101V,Missense_G101V,Missense_G101V exm633776 7 91867072 [T/C] NM_194456,NM_004912,NM_001013406,NM_194454,NM_194455 KRIT1,KRIT1,KRIT1,KRIT1,KRIT1 EXON Synonymous_G88G,Synonymous_G88G,Synonymous_G88G,Synonymous_G88G,Synonymous_G88G exm633777 7 91870334 [T/C] NM_194456,NM_004912,NM_001013406,NM_194454,NM_194455 KRIT1,KRIT1,KRIT1,KRIT1,KRIT1 EXON Missense_I79V,Missense_I79V,Missense_I79V,Missense_I79V,Missense_I79V exm633783 7 91871373 [T/C] NM_194456,NM_004912,NM_001013406,NM_194454,NM_194455 KRIT1,KRIT1,KRIT1,KRIT1,KRIT1 EXON Missense_R26Q,Missense_R26Q,Missense_R26Q,Missense_R26Q,Missense_R26Q exm633806 7 91936684 [A/G] NM_019004 ANKIB1 EXON Missense_G67D exm633813 7 91936874 [T/G] NM_019004 ANKIB1 EXON Missense_Q130H exm633818 7 91948770 [T/C] NM_019004 ANKIB1 EXON Missense_R205W exm2266446 7 91974757 [A/G] NM_019004 ANKIB1 Silent exm633830 7 91980328 [T/C] NM_019004 ANKIB1 EXON Missense_F384L exm633840 7 92000827 [A/G] NM_019004 ANKIB1 EXON Missense_N508S exm2258507 7 92019307 [T/C] NM_019004 ANKIB1 EXON Synonymous_T643T exm2156927 7 92019330 [A/G] NM_019004 ANKIB1 EXON Missense_H651R exm633854 7 92027064 [A/G] NM_019004 ANKIB1 EXON Missense_R808H exm2258508 7 92027080 [T/C] NM_019004 ANKIB1 EXON Synonymous_S813S exm2156940 7 92027557 [A/G] NM_019004 ANKIB1 EXON Missense_N855S exm633868 7 92027808 [T/G] NM_019004 ANKIB1 EXON Missense_S939A exm633871 7 92027853 [A/G] NM_019004 ANKIB1 EXON Missense_S954G exm633875 7 92027936 [A/C] NM_019004 ANKIB1 EXON Missense_N981K exm633877 7 92028001 [T/G] NM_019004 ANKIB1 EXON Missense_C1003F exm633878 7 92028005 [G/C] NM_019004 ANKIB1 EXON Missense_I1004M exm633879 7 92028013 [A/G] NM_019004 ANKIB1 EXON Missense_G1007E exm633880 7 92028028 [A/G] NM_019004 ANKIB1 EXON Missense_K1012R exm2156943 7 92028031 [A/G] NM_019004 ANKIB1 EXON Missense_D1013G exm633881 7 92028039 [A/C] NM_019004 ANKIB1 EXON Missense_L1016M exm633883 7 92028060 [A/G] NM_019004 ANKIB1 EXON Missense_M1023V exm633892 7 92028222 [G/C] NM_019004 ANKIB1 EXON Missense_Q1077E exm633908 7 92078190 [A/T] NM_021167,NR_052016 GATAD1,GATAD1 EXON Missense_N125I,Silent exm633921 7 92085763 [T/C] NM_021167,NR_052016 GATAD1,GATAD1 EXON Missense_R233W,Silent exm633926 7 92085836 [T/C] NM_021167,NR_052016 GATAD1,GATAD1 EXON Missense_P257L,Silent exm634010 7 92116813 [T/A] NM_000466 PEX1 EXON Missense_S1270R exm2156973 7 92119138 [A/C] NM_000466 PEX1 EXON Missense_V1176L exm634022 7 92119161 [T/C] NM_000466 PEX1 EXON Missense_D1168G exm634032 7 92120651 [T/A] NM_000466 PEX1 EXON Missense_M1125L exm634033 7 92120653 [T/C] NM_000466 PEX1 EXON Missense_N1124S exm634045 7 92122443 [T/C] NM_000466 PEX1 EXON Missense_V1011M exm634047 7 92123683 [T/C] NM_000466 PEX1 EXON Missense_R985H exm2156986 7 92123935 [T/G] NM_000466 PEX1 EXON Missense_A931D exm634055 7 92123938 [T/C] NM_000466 PEX1 EXON Missense_Q930R exm634061 7 92129091 [A/G] NM_000466 PEX1 EXON Missense_P882L exm634070 7 92130846 [A/G] NM_000466 PEX1 EXON Missense_M853T exm634073 7 92130876 [T/C] NM_000466 PEX1 EXON Missense_G843D exm634084 7 92131349 [G/C] NM_000466 PEX1 EXON Missense_L757F exm634085 7 92131380 [T/G] NM_000466 PEX1 EXON Missense_E747A exm634087 7 92132381 [T/C] NM_000466 PEX1 EXON Missense_V734I exm634090 7 92132493 [T/C] NM_000466 PEX1 EXON Missense_I696M exm634099 7 92134072 [A/G] NM_000466 PEX1 EXON Missense_A682V exm634103 7 92134142 [A/C] NM_000466 PEX1 EXON Missense_V659F exm634119 7 92140266 [T/C] NM_000466 PEX1 EXON Missense_T527A exm634122 7 92140324 [C/G] NM_000466 PEX1 EXON Missense_W507C exm634134 7 92143250 [A/G] NM_000466 PEX1 EXON Missense_I424T exm634135 7 92143253 [T/C] NM_000466 PEX1 EXON Missense_N423S exm634137 7 92143272 [T/C] NM_000466 PEX1 EXON Missense_D417N exm634138 7 92146687 [T/G] NM_000466 PEX1 EXON Missense_A381D exm634141 7 92146744 [A/G] NM_000466 PEX1 EXON Missense_S362L exm634148 7 92146895 [T/C] NM_000466 PEX1 EXON Missense_I312V exm634150 7 92146930 [A/G] NM_000466 PEX1 EXON Missense_A300V exm634154 7 92147017 [T/C] NM_000466 PEX1 EXON Missense_N271S exm634162 7 92147192 [A/G] NM_000466 PEX1 EXON Missense_L213F exm634163 7 92147202 [T/C] NM_000466 PEX1 EXON Missense_M209I exm634192 7 92158135 [T/C] NM_032120 RBM48 EXON Missense_S3L exm634203 7 92158970 [T/C] NM_032120 RBM48 EXON Nonsense_Q98X exm634223 7 92164019 [T/C] NM_032120 RBM48 EXON Missense_S251F exm634228 7 92164118 [A/G] NM_032120 RBM48 EXON Missense_R284H exm634233 7 92164221 [A/C] NM_032120 RBM48 EXON Missense_K318N exm634235 7 92164257 [A/G] NM_032120 RBM48 EXON Synonymous_A330A exm2258510 7 92164257 [A/G] NM_032120 RBM48 EXON Synonymous_A330A exm634242 7 92166221 [T/G] NM_032120 RBM48 EXON Missense_S358R exm634246 7 92199201 [T/C] NM_001040057,NM_152789,NR_034169 FAM133B,FAM133B,FAM133DP EXON Missense_K172R,Missense_K182R,Silent exm634254 7 92206490 [T/C] NM_001040057,NM_152789,NR_034169 FAM133B,FAM133B,FAM133DP EXON Missense_R121Q,Missense_R131Q,Silent exm634273 7 92244486 [A/T] NM_001145306,NM_001259 CDK6,CDK6 EXON Missense_S317C,Missense_S317C exm-rs42235 7 92248076 [T/C] NM_001145306,NM_001259 CDK6,CDK6 Silent,Silent exm-rs2282978 7 92264410 [T/C] NM_001145306,NM_001259 CDK6,CDK6 Silent,Silent exm634293 7 92404051 [T/C] NM_001145306,NM_001259 CDK6,CDK6 EXON Missense_D110N,Missense_D110N exm-rs445 7 92408370 [T/C] NM_001145306,NM_001259 CDK6,CDK6 Silent,Silent exm2266447 7 92674917 [A/G] exm634302 7 92730651 [A/T] NM_001193307,NM_017654 SAMD9,SAMD9 EXON Missense_E1587V,Missense_E1587V exm634307 7 92730738 [T/A] NM_001193307,NM_017654 SAMD9,SAMD9 EXON Nonsense_L1558X,Nonsense_L1558X exm634309 7 92730745 [T/C] NM_001193307,NM_017654 SAMD9,SAMD9 EXON Missense_A1556T,Missense_A1556T exm634316 7 92730850 [T/C] NM_001193307,NM_017654 SAMD9,SAMD9 EXON Missense_E1521K,Missense_E1521K exm2246108 7 92731015 [T/C] NM_001193307,NM_017654 SAMD9,SAMD9 EXON Missense_G1466R,Missense_G1466R exm634330 7 92731309 [T/C] NM_001193307,NM_017654 SAMD9,SAMD9 EXON Missense_E1368K,Missense_E1368K exm634335 7 92731410 [A/C] NM_001193307,NM_017654 SAMD9,SAMD9 EXON Missense_R1334I,Missense_R1334I exm634344 7 92731686 [A/G] NM_001193307,NM_017654 SAMD9,SAMD9 EXON Missense_P1242L,Missense_P1242L exm2246109 7 92731892 [T/G] NM_001193307,NM_017654 SAMD9,SAMD9 EXON Missense_R1173S,Missense_R1173S exm634364 7 92732196 [A/G] NM_001193307,NM_017654 SAMD9,SAMD9 EXON Missense_L1072P,Missense_L1072P exm634369 7 92732403 [T/C] NM_001193307,NM_017654 SAMD9,SAMD9 EXON Missense_N1003S,Missense_N1003S exm634373 7 92732557 [G/C] NM_001193307,NM_017654 SAMD9,SAMD9 EXON Missense_G952R,Missense_G952R exm634374 7 92732566 [A/C] NM_001193307,NM_017654 SAMD9,SAMD9 EXON Missense_A949S,Missense_A949S exm634380 7 92732725 [A/G] NM_001193307,NM_017654 SAMD9,SAMD9 EXON Missense_Y896H,Missense_Y896H exm634381 7 92732731 [T/C] NM_001193307,NM_017654 SAMD9,SAMD9 EXON Missense_K894E,Missense_K894E exm634383 7 92732769 [T/C] NM_001193307,NM_017654 SAMD9,SAMD9 EXON Missense_D881G,Missense_D881G exm634395 7 92733037 [T/C] NM_001193307,NM_017654 SAMD9,SAMD9 EXON Missense_V792I,Missense_V792I exm634421 7 92733766 [A/C] NM_001193307,NM_017654 SAMD9,SAMD9 EXON Missense_V549L,Missense_V549L exm634424 7 92733883 [A/G] NM_001193307,NM_017654 SAMD9,SAMD9 EXON Missense_P510S,Missense_P510S exm634427 7 92733975 [A/G] NM_001193307,NM_017654 SAMD9,SAMD9 EXON Missense_T479M,Missense_T479M exm634435 7 92734051 [T/C] NM_001193307,NM_017654 SAMD9,SAMD9 EXON Missense_A454T,Missense_A454T exm634437 7 92734065 [T/C] NM_001193307,NM_017654 SAMD9,SAMD9 EXON Missense_N449S,Missense_N449S exm2157101 7 92734285 [T/C] NM_001193307,NM_017654 SAMD9,SAMD9 EXON Missense_A376T,Missense_A376T exm634443 7 92734353 [A/G] NM_001193307,NM_017654 SAMD9,SAMD9 EXON Missense_T353M,Missense_T353M exm634448 7 92734416 [A/G] NM_001193307,NM_017654 SAMD9,SAMD9 EXON Missense_I332T,Missense_I332T exm634457 7 92734564 [A/G] NM_001193307,NM_017654 SAMD9,SAMD9 EXON Missense_C283R,Missense_C283R exm634459 7 92734671 [A/G] NM_001193307,NM_017654 SAMD9,SAMD9 EXON Missense_I247T,Missense_I247T exm634465 7 92734749 [T/C] NM_001193307,NM_017654 SAMD9,SAMD9 EXON Missense_R221Q,Missense_R221Q exm634472 7 92734983 [A/G] NM_001193307,NM_017654 SAMD9,SAMD9 EXON Missense_I143T,Missense_I143T exm634481 7 92735154 [A/G] NM_001193307,NM_017654 SAMD9,SAMD9 EXON Missense_S86F,Missense_S86F exm634482 7 92735188 [A/G] NM_001193307,NM_017654 SAMD9,SAMD9 EXON Missense_R75W,Missense_R75W exm634504 7 92760738 [T/G] NM_152703 SAMD9L EXON Missense_N1516T exm634507 7 92760773 [A/C] NM_152703 SAMD9L EXON Missense_N1504K exm634510 7 92760823 [T/C] NM_152703 SAMD9L EXON Missense_V1488I exm634519 7 92761026 [T/C] NM_152703 SAMD9L EXON Missense_S1420N exm634524 7 92761203 [A/G] NM_152703 SAMD9L EXON Missense_V1361A exm634537 7 92761875 [C/G] NM_152703 SAMD9L EXON Missense_G1137A exm634548 7 92762214 [A/G] NM_152703 SAMD9L EXON Missense_S1024F exm634567 7 92762757 [T/C] NM_152703 SAMD9L EXON Missense_R843Q exm634572 7 92762855 [A/C] NM_152703 SAMD9L EXON Missense_N810K exm634578 7 92763216 [T/C] NM_152703 SAMD9L EXON Missense_G690D exm634584 7 92763351 [A/G] NM_152703 SAMD9L EXON Missense_L645P exm634585 7 92763372 [T/C] NM_152703 SAMD9L EXON Missense_R638H exm634587 7 92763399 [T/C] NM_152703 SAMD9L EXON Missense_R629Q exm634590 7 92763589 [T/C] NM_152703 SAMD9L EXON Missense_A566T exm634592 7 92763720 [A/G] NM_152703 SAMD9L EXON Missense_A522V exm634593 7 92763736 [A/G] NM_152703 SAMD9L EXON Missense_W517R exm634600 7 92763913 [A/C] NM_152703 SAMD9L EXON Missense_A458S exm634605 7 92764069 [A/G] NM_152703 SAMD9L EXON Nonsense_R406X exm2157127 7 92764270 [T/G] NM_152703 SAMD9L EXON Missense_L339I exm634611 7 92764306 [T/C] NM_152703 SAMD9L EXON Missense_I327V exm634613 7 92764419 [A/G] NM_152703 SAMD9L EXON Missense_F289S exm634615 7 92764431 [T/C] NM_152703 SAMD9L EXON Missense_R285Q exm634618 7 92764489 [T/C] NM_152703 SAMD9L EXON Missense_V266I exm634619 7 92764591 [A/G] NM_152703 SAMD9L EXON Missense_R232C exm634625 7 92764714 [T/G] NM_152703 SAMD9L EXON Missense_N191H exm634627 7 92764780 [G/C] NM_152703 SAMD9L EXON Missense_D169H exm634632 7 92764900 [T/G] NM_152703 SAMD9L EXON Missense_I129L exm634634 7 92764917 [A/G] NM_152703 SAMD9L EXON Missense_P123L exm634637 7 92764999 [A/G] NM_152703 SAMD9L EXON Missense_S96P exm634659 7 92825188 [T/C] NM_198151,NM_001039372 HEPACAM2,HEPACAM2 EXON Missense_G398R,Missense_G410R exm634666 7 92826850 [A/C] NM_198151,NM_001039372 HEPACAM2,HEPACAM2 EXON Missense_L350F,Missense_L362F exm634671 7 92837938 [T/C] NM_198151,NM_001039372 HEPACAM2,HEPACAM2 EXON Missense_G311S,Missense_G323S exm634678 7 92844819 [A/G] NM_198151,NM_001039372 HEPACAM2,HEPACAM2 EXON Missense_L192F,Missense_L204F exm634683 7 92844882 [C/G] NM_198151,NM_001039372 HEPACAM2,HEPACAM2 EXON Missense_L171V,Missense_L183V exm634685 7 92844894 [G/C] NM_198151,NM_001039372 HEPACAM2,HEPACAM2 EXON Missense_A167P,Missense_A179P exm634686 7 92844998 [A/T] NM_198151,NM_001039372 HEPACAM2,HEPACAM2 EXON Missense_D132V,Missense_D144V exm634687 7 92848413 [T/C] NM_198151,NM_001039372 HEPACAM2,HEPACAM2 Silent,Silent exm634689 7 92848480 [T/C] NM_198151,NM_001039372 HEPACAM2,HEPACAM2 EXON Missense_V110M,Missense_V122M exm634690 7 92848522 [C/G] NM_198151,NM_001039372 HEPACAM2,HEPACAM2 EXON Missense_L96V,Missense_L108V exm634693 7 92848587 [T/G] NM_198151,NM_001039372 HEPACAM2,HEPACAM2 EXON Missense_K74T,Missense_K86T exm634696 7 92848687 [T/C] NM_198151,NM_001039372 HEPACAM2,HEPACAM2 EXON Missense_V41I,Missense_V53I exm2258513 7 92848688 [A/G] NM_198151,NM_001039372 HEPACAM2,HEPACAM2 EXON Synonymous_P40P,Synonymous_P52P exm2157157 7 92855725 [T/C] NM_001039372 HEPACAM2 EXON Missense_D12G exm-rs12539298 7 92877817 [A/G] NM_001257998,NM_024553,NM_017667 CCDC132,CCDC132,CCDC132 Silent,Silent,Silent exm634726 7 92887539 [A/G] NM_001257998,NM_024553,NM_017667 CCDC132,CCDC132,CCDC132 EXON Missense_R134H,Missense_R164H,Missense_R164H exm634727 7 92887684 [T/C] NM_001257998,NM_024553,NM_017667 CCDC132,CCDC132,CCDC132 EXON Missense_R156W,Missense_R186W,Missense_R186W exm634755 7 92921078 [A/G] NM_001257998,NM_017667 CCDC132,CCDC132 EXON Missense_M306V,Missense_M336V exm634758 7 92921132 [A/G] NM_001257998,NM_017667 CCDC132,CCDC132 EXON Missense_T324A,Missense_T354A exm634759 7 92921139 [T/C] NM_001257998,NM_017667 CCDC132,CCDC132 EXON Missense_S326L,Missense_S356L exm634776 7 92932812 [A/G] NM_001257998,NM_017667 CCDC132,CCDC132 EXON Missense_T438A,Missense_T468A exm634779 7 92935272 [T/A] NM_001257998,NM_017667 CCDC132,CCDC132 EXON Missense_N499Y,Missense_N529Y exm634796 7 92979199 [A/G] NM_001257998,NM_017667 CCDC132,CCDC132 EXON Missense_A743T,Missense_A773T exm634800 7 92985211 [A/G] NM_001257998,NM_017667 CCDC132,CCDC132 EXON Missense_N835S,Missense_N865S exm634808 7 92985372 [T/C] NM_001257998,NM_017667 CCDC132,CCDC132 EXON Missense_R889W,Missense_R919W exm634810 7 92987639 [T/C] NM_001257998,NM_017667 CCDC132,CCDC132 EXON Missense_T899M,Missense_T929M exm634814 7 92987728 [A/G] NM_001257998,NM_017667 CCDC132,CCDC132 EXON Missense_I929V,Missense_I959V exm634820 7 93055724 [T/C] NM_001742,NM_001164737,NM_001164738 CALCR,CALCR,CALCR EXON Missense_E457K,Missense_E491K,Missense_E457K exm634822 7 93055753 [A/G] NM_001742,NM_001164737,NM_001164738 CALCR,CALCR,CALCR EXON Missense_L447P,Missense_L481P,Missense_L447P exm634829 7 93055808 [A/C] NM_001742,NM_001164737,NM_001164738 CALCR,CALCR,CALCR EXON Missense_A429S,Missense_A463S,Missense_A429S exm634834 7 93055846 [T/C] NM_001742,NM_001164737,NM_001164738 CALCR,CALCR,CALCR EXON Missense_R416H,Missense_R450H,Missense_R416H exm634846 7 93065451 [T/C] NM_001742,NM_001164737,NM_001164738 CALCR,CALCR,CALCR EXON Missense_R321Q,Missense_R355Q,Missense_R321Q exm634856 7 93067538 [T/C] NM_001742,NM_001164737,NM_001164738 CALCR,CALCR,CALCR EXON Missense_V283M,Missense_V317M,Missense_V283M exm634869 7 93090133 [T/C] NM_001742,NM_001164737,NM_001164738 CALCR,CALCR,CALCR EXON Synonymous_P216P,Synonymous_P250P,Synonymous_P216P exm634872 7 93090257 [T/C] NM_001742,NM_001164737,NM_001164738 CALCR,CALCR,CALCR EXON Missense_S175N,Missense_S209N,Missense_S175N exm634875 7 93098070 [T/C] NM_001742,NM_001164737,NM_001164738 CALCR,CALCR,CALCR EXON Missense_I160V,Missense_I178V,Missense_I160V exm634879 7 93101739 [T/C] NM_001742,NM_001164737,NM_001164738 CALCR,CALCR,CALCR EXON Missense_R126Q,Missense_R144Q,Missense_R126Q exm634889 7 93108681 [T/C] NM_001742,NM_001164737,NM_001164738 CALCR,CALCR,CALCR EXON Missense_A64T,Missense_A82T,Missense_A64T exm634900 7 93116243 [A/G] NM_001742,NM_001164737,NM_001164738 CALCR,CALCR,CALCR EXON Synonymous_N17N,Synonymous_N35N,Synonymous_N17N exm634903 7 93116299 [A/G] NM_001742,NM_001164737,NM_001164738 CALCR,CALCR,CALCR EXON Silent,Missense_S17P,Silent exm2270649 7 93423576 [T/G] exm2246115 7 93516148 [T/C] NM_006528,NM_001271004,NM_001271003 TFPI2,TFPI2,TFPI2 EXON Missense_R231Q,Silent,Missense_R220Q exm634912 7 93516157 [T/C] NM_006528,NM_001271004,NM_001271003 TFPI2,TFPI2,TFPI2 EXON Missense_R228Q,Silent,Missense_R217Q exm634913 7 93516158 [A/G] NM_006528,NM_001271004,NM_001271003 TFPI2,TFPI2,TFPI2 EXON Missense_R228W,Silent,Missense_R217W exm2246116 7 93516582 [A/G] NM_006528,NM_001271004,NM_001271003 TFPI2,TFPI2,TFPI2 EXON Missense_C208R,Synonymous_H182H,Missense_C197R exm634922 7 93516727 [G/C] NM_006528,NM_001271004,NM_001271003 TFPI2,TFPI2,TFPI2 EXON Nonsense_Y159X,Silent,Nonsense_Y148X exm634924 7 93518359 [T/C] NM_006528,NM_001271004,NM_001271003 TFPI2,TFPI2,TFPI2 EXON Missense_A150T,Missense_A150T,Missense_A139T exm634926 7 93518412 [T/C] NM_006528,NM_001271004,NM_001271003 TFPI2,TFPI2,TFPI2 EXON Missense_R132Q,Missense_R132Q,Missense_R121Q exm634927 7 93518432 [T/G] NM_006528,NM_001271004,NM_001271003 TFPI2,TFPI2,TFPI2 EXON Missense_F125L,Missense_F125L,Missense_F114L exm634930 7 93518529 [A/G] NM_006528,NM_001271004,NM_001271003 TFPI2,TFPI2,TFPI2 EXON Missense_P93L,Missense_P93L,Missense_P82L exm634935 7 93519467 [T/C] NM_006528,NM_001271004,NM_001271003 TFPI2,TFPI2,TFPI2 EXON Missense_A85T,Missense_A85T,Missense_A74T exm634942 7 93519924 [T/C] NM_006528,NM_001271004,NM_001271003 TFPI2,TFPI2,TFPI2 EXON Missense_D23N,Missense_D23N,Missense_D23N exm634952 7 93536140 [A/C] NM_021955 GNGT1 EXON Missense_L28M exm2275950 7 93540153 [A/G] NM_021955 GNGT1 EXON Missense_E50K exm634961 7 93540197 [A/C] NM_021955 GNGT1 EXON Missense_F64L exm634970 7 93551452 [C/G] NM_004126 GNG11 EXON Missense_M1I exm634974 7 93555446 [A/G] NM_004126 GNG11 EXON Missense_R47H exm2266448 7 93569422 [A/G] exm2273436 7 93623458 [A/G] NM_005868 BET1 EXON Silent exm634976 7 93623546 [G/C] NM_005868 BET1 EXON Missense_R118T exm2266547 7 93746499 [A/G] exm635007 7 94028386 [A/G] NM_000089 COL1A2 EXON Missense_R41H exm635012 7 94029544 [A/G] NM_000089 COL1A2 EXON Missense_G57S exm635019 7 94033892 [T/C] NM_000089 COL1A2 EXON Missense_P102S exm635044 7 94038649 [A/G] NM_000089 COL1A2 EXON Missense_V270I exm635047 7 94038721 [T/G] NM_000089 COL1A2 EXON Missense_V294F exm635070 7 94039790 [A/C] NM_000089 COL1A2 EXON Missense_P383H exm635082 7 94040411 [A/G] NM_000089 COL1A2 EXON Missense_R432Q exm635086 7 94041412 [T/C] NM_000089 COL1A2 EXON Synonymous_P461P exm2258516 7 94041412 [T/C] NM_000089 COL1A2 EXON Synonymous_P461P exm635094 7 94042447 [A/G] NM_000089 COL1A2 EXON Missense_R519Q exm635100 7 94043239 [G/C] NM_000089 COL1A2 EXON Missense_P549A exm635128 7 94048862 [A/G] NM_000089 COL1A2 EXON Missense_R693Q exm635132 7 94049588 [A/G] NM_000089 COL1A2 EXON Missense_R708Q exm635134 7 94049737 [A/G] NM_000089 COL1A2 EXON Missense_N723S exm635136 7 94049940 [A/G] NM_000089 COL1A2 EXON Missense_V759I exm635138 7 94050334 [T/C] NM_000089 COL1A2 EXON Missense_P770L exm635144 7 94052290 [T/C] NM_000089 COL1A2 EXON Missense_P809S exm-rs441051 7 94054000 [T/C] NM_000089 COL1A2 Silent exm635159 7 94054442 [T/C] NM_000089 COL1A2 EXON Missense_P896L exm635162 7 94054472 [A/G] NM_000089 COL1A2 EXON Missense_R906H exm635174 7 94055069 [A/G] NM_000089 COL1A2 EXON Missense_R948H exm635177 7 94055095 [A/G] NM_000089 COL1A2 EXON Missense_V957I exm635202 7 94056353 [A/G] NM_000089 COL1A2 EXON Missense_V1047M exm635213 7 94056984 [A/G] NM_000089 COL1A2 EXON Missense_G1105S exm635225 7 94057691 [T/C] NM_000089 COL1A2 EXON Missense_R1205W exm635226 7 94057692 [A/G] NM_000089 COL1A2 EXON Missense_R1205Q exm635233 7 94058641 [A/C] NM_000089 COL1A2 EXON Missense_N1285H exm635239 7 94139427 [T/C] NM_022900 CASD1 EXON Missense_R11W exm635262 7 94163054 [T/A] NM_022900 CASD1 EXON Missense_S190T exm635266 7 94164629 [T/C] NM_022900 CASD1 EXON Missense_Y213H exm635274 7 94164820 [A/C] NM_022900 CASD1 EXON Missense_E276D exm635279 7 94166857 [A/G] NM_022900 CASD1 EXON Missense_R306Q exm635280 7 94166865 [T/G] NM_022900 CASD1 EXON Missense_V309F exm635283 7 94166974 [T/C] NM_022900 CASD1 EXON Missense_T345I exm635287 7 94167102 [A/G] NM_022900 CASD1 EXON Missense_N388D exm635299 7 94175000 [T/A] NM_022900 CASD1 EXON Missense_Q540H exm635305 7 94176461 [T/C] NM_022900 CASD1 EXON Missense_F563L exm635306 7 94176476 [A/G] NM_022900 CASD1 EXON Missense_A568T exm2264244 7 94179388 [A/C] NM_022900 CASD1 Silent exm635314 7 94180702 [A/G] NM_022900 CASD1 EXON Missense_R623H exm635316 7 94180755 [A/C] NM_022900 CASD1 EXON Missense_N641H exm635325 7 94183834 [A/G] NM_022900 CASD1 EXON Missense_A692T exm635332 7 94185032 [T/C] NM_022900 CASD1 EXON Missense_L786F exm2266548 7 94214070 [A/G] exm635362 7 94232658 [T/G] NM_003919,NM_001099401,NM_001099400 SGCE,SGCE,SGCE EXON Missense_T257P,Missense_T257P,Missense_T257P exm635372 7 94252671 [A/C] NM_003919,NM_001099401,NM_001099400 SGCE,SGCE,SGCE EXON Missense_R143S,Missense_R143S,Missense_R143S exm635398 7 94293129 [T/C] NM_001184962,NM_001184961,NM_015068,NM_001040152,NM_001172438,NM_001172437 PEG10,PEG10,PEG10,PEG10,PEG10,PEG10 EXON Synonymous_D121D,Synonymous_D121D,Synonymous_D87D,Synonymous_D87D,Synonymous_D163D,Synonymous_D163D exm2258518 7 94293129 [T/C] NM_001184962,NM_001184961,NM_015068,NM_001040152,NM_001172438,NM_001172437 PEG10,PEG10,PEG10,PEG10,PEG10,PEG10 EXON Synonymous_D121D,Synonymous_D121D,Synonymous_D87D,Synonymous_D87D,Synonymous_D163D,Synonymous_D163D exm635403 7 94293323 [T/G] NM_001184962,NM_001184961,NM_015068,NM_001040152,NM_001172438,NM_001172437 PEG10,PEG10,PEG10,PEG10,PEG10,PEG10 EXON Missense_M186R,Missense_M186R,Missense_M152R,Missense_M152R,Missense_M228R,Missense_M228R exm635405 7 94293425 [A/G] NM_001184962,NM_001184961,NM_015068,NM_001040152,NM_001172438,NM_001172437 PEG10,PEG10,PEG10,PEG10,PEG10,PEG10 EXON Missense_N220S,Missense_N220S,Missense_N186S,Missense_N186S,Missense_N262S,Missense_N262S exm635423 7 94294371 [G/C] NM_001184962,NM_001184961,NM_015068,NM_001040152,NM_001172438,NM_001172437 PEG10,PEG10,PEG10,PEG10,PEG10,PEG10 EXON Silent,Missense_E535D,Missense_E501D,Silent,Silent,Missense_E577D exm635428 7 94294682 [A/C] NM_001184962,NM_001184961,NM_015068,NM_001040152,NM_001172438,NM_001172437 PEG10,PEG10,PEG10,PEG10,PEG10,PEG10 EXON Silent,Missense_S639Y,Missense_S605Y,Silent,Silent,Missense_S681Y exm635431 7 94294798 [T/C] NM_001184962,NM_001184961,NM_015068,NM_001040152,NM_001172438,NM_001172437 PEG10,PEG10,PEG10,PEG10,PEG10,PEG10 EXON Silent,Missense_R678C,Missense_R644C,Silent,Silent,Missense_R720C exm635434 7 94294982 [T/C] NM_001184962,NM_001184961,NM_015068,NM_001040152,NM_001172438,NM_001172437 PEG10,PEG10,PEG10,PEG10,PEG10,PEG10 EXON Silent,Missense_T739I,Missense_T705I,Silent,Silent,Missense_T781I exm2258519 7 94463888 [T/C] exm635438 7 94539540 [A/T] NM_017650,NM_001166160,NM_001166162,NM_001166163,NM_001166161 PPP1R9A,PPP1R9A,PPP1R9A,PPP1R9A,PPP1R9A EXON Missense_S39T,Missense_S39T,Missense_S39T,Missense_S39T,Missense_S39T exm635454 7 94540227 [A/T] NM_017650,NM_001166160,NM_001166162,NM_001166163,NM_001166161 PPP1R9A,PPP1R9A,PPP1R9A,PPP1R9A,PPP1R9A EXON Missense_T268S,Missense_T268S,Missense_T268S,Missense_T268S,Missense_T268S exm635463 7 94540416 [A/G] NM_017650,NM_001166160,NM_001166162,NM_001166163,NM_001166161 PPP1R9A,PPP1R9A,PPP1R9A,PPP1R9A,PPP1R9A EXON Missense_M331V,Missense_M331V,Missense_M331V,Missense_M331V,Missense_M331V exm635468 7 94540527 [A/G] NM_017650,NM_001166160,NM_001166162,NM_001166163,NM_001166161 PPP1R9A,PPP1R9A,PPP1R9A,PPP1R9A,PPP1R9A EXON Missense_D368N,Missense_D368N,Missense_D368N,Missense_D368N,Missense_D368N exm635470 7 94540534 [T/C] NM_017650,NM_001166160,NM_001166162,NM_001166163,NM_001166161 PPP1R9A,PPP1R9A,PPP1R9A,PPP1R9A,PPP1R9A EXON Missense_T370I,Missense_T370I,Missense_T370I,Missense_T370I,Missense_T370I exm635474 7 94540623 [A/G] NM_017650,NM_001166160,NM_001166162,NM_001166163,NM_001166161 PPP1R9A,PPP1R9A,PPP1R9A,PPP1R9A,PPP1R9A EXON Missense_D400N,Missense_D400N,Missense_D400N,Missense_D400N,Missense_D400N exm635478 7 94540709 [T/G] NM_017650,NM_001166160,NM_001166162,NM_001166163,NM_001166161 PPP1R9A,PPP1R9A,PPP1R9A,PPP1R9A,PPP1R9A EXON Missense_D428E,Missense_D428E,Missense_D428E,Missense_D428E,Missense_D428E exm635479 7 94540750 [T/C] NM_017650,NM_001166160,NM_001166162,NM_001166163,NM_001166161 PPP1R9A,PPP1R9A,PPP1R9A,PPP1R9A,PPP1R9A EXON Missense_I442T,Missense_I442T,Missense_I442T,Missense_I442T,Missense_I442T exm635480 7 94540770 [A/G] NM_017650,NM_001166160,NM_001166162,NM_001166163,NM_001166161 PPP1R9A,PPP1R9A,PPP1R9A,PPP1R9A,PPP1R9A EXON Missense_E449K,Missense_E449K,Missense_E449K,Missense_E449K,Missense_E449K exm2157483 7 94540810 [A/C] NM_017650,NM_001166160,NM_001166162,NM_001166163,NM_001166161 PPP1R9A,PPP1R9A,PPP1R9A,PPP1R9A,PPP1R9A EXON Missense_A462D,Missense_A462D,Missense_A462D,Missense_A462D,Missense_A462D exm635485 7 94740647 [A/G] NM_017650,NM_001166160,NM_001166162,NM_001166163,NM_001166161 PPP1R9A,PPP1R9A,PPP1R9A,PPP1R9A,PPP1R9A EXON Missense_Y491C,Missense_Y491C,Missense_Y491C,Missense_Y491C,Missense_Y491C exm635488 7 94740697 [C/G] NM_017650,NM_001166160,NM_001166162,NM_001166163,NM_001166161 PPP1R9A,PPP1R9A,PPP1R9A,PPP1R9A,PPP1R9A EXON Missense_E508Q,Missense_E508Q,Missense_E508Q,Missense_E508Q,Missense_E508Q exm635495 7 94827740 [T/C] NM_017650,NM_001166160,NM_001166162,NM_001166163,NM_001166161 PPP1R9A,PPP1R9A,PPP1R9A,PPP1R9A,PPP1R9A EXON Missense_R612C,Missense_R612C,Missense_R612C,Missense_R612C,Missense_R612C exm635504 7 94876803 [A/G] NM_017650,NM_001166160,NM_001166162,NM_001166163,NM_001166161 PPP1R9A,PPP1R9A,PPP1R9A,PPP1R9A,PPP1R9A EXON Missense_V689I,Missense_V711I,Missense_V689I,Missense_V689I,Missense_V689I exm635517 7 94881157 [C/G] NM_017650,NM_001166160,NM_001166162,NM_001166163,NM_001166161 PPP1R9A,PPP1R9A,PPP1R9A,PPP1R9A,PPP1R9A EXON Missense_G805A,Missense_G827A,Missense_G805A,Missense_G805A,Missense_G805A exm635520 7 94881305 [T/G] NM_017650,NM_001166160,NM_001166162,NM_001166163,NM_001166161 PPP1R9A,PPP1R9A,PPP1R9A,PPP1R9A,PPP1R9A EXON Missense_L821R,Missense_L843R,Missense_L821R,Missense_L821R,Missense_L821R exm635526 7 94897945 [T/C] NM_017650,NM_001166160,NM_001166162,NM_001166163,NM_001166161 PPP1R9A,PPP1R9A,PPP1R9A,PPP1R9A,PPP1R9A EXON Missense_R895C,Missense_R917C,Missense_R895C,Missense_R895C,Missense_R895C exm635542 7 94898811 [A/G] NM_017650,NM_001166160,NM_001166162,NM_001166163,NM_001166161 PPP1R9A,PPP1R9A,PPP1R9A,PPP1R9A,PPP1R9A EXON Silent,Missense_R1039Q,Missense_R1017Q,Silent,Missense_R999Q exm635545 7 94903420 [A/G] NM_017650,NM_001166160,NM_001166162,NM_001166163,NM_001166161 PPP1R9A,PPP1R9A,PPP1R9A,PPP1R9A,PPP1R9A EXON Silent,Missense_S1079N,Missense_S1057N,Silent,Missense_S1039N exm635552 7 94903477 [A/G] NM_017650,NM_001166160,NM_001166162,NM_001166163,NM_001166161 PPP1R9A,PPP1R9A,PPP1R9A,PPP1R9A,PPP1R9A EXON Silent,Missense_S1098N,Missense_S1076N,Silent,Missense_S1058N exm635554 7 94913406 [A/G] NM_017650,NM_001166160,NM_001166162,NM_001166163,NM_001166161 PPP1R9A,PPP1R9A,PPP1R9A,PPP1R9A,PPP1R9A EXON Silent,Missense_M1125V,Missense_M1103V,Silent,Missense_M1085V exm635555 7 94913407 [T/C] NM_017650,NM_001166160,NM_001166162,NM_001166163,NM_001166161 PPP1R9A,PPP1R9A,PPP1R9A,PPP1R9A,PPP1R9A EXON Silent,Missense_M1125T,Missense_M1103T,Silent,Missense_M1085T exm635557 7 94913433 [T/C] NM_017650,NM_001166160,NM_001166162,NM_001166163,NM_001166161 PPP1R9A,PPP1R9A,PPP1R9A,PPP1R9A,PPP1R9A EXON Silent,Missense_R1134W,Missense_R1112W,Silent,Missense_R1094W exm635566 7 94917894 [A/G] NM_017650,NM_001166160,NM_001166162,NM_001166163,NM_001166161 PPP1R9A,PPP1R9A,PPP1R9A,PPP1R9A,PPP1R9A EXON Missense_R983Q,Missense_R1259Q,Silent,Missense_R975Q,Missense_R1181Q exm635570 7 94917978 [A/C] NM_017650,NM_001166160,NM_001166162,NM_001166163,NM_001166161 PPP1R9A,PPP1R9A,PPP1R9A,PPP1R9A,PPP1R9A EXON Missense_A1011D,Missense_A1287D,Silent,Missense_A1003D,Missense_A1209D exm635574 7 94919469 [T/C] NM_017650,NM_001166160,NM_001166162,NM_001166163,NM_001166161 PPP1R9A,PPP1R9A,PPP1R9A,PPP1R9A,PPP1R9A EXON Missense_S1051P,Missense_S1327P,Missense_S1206P,Missense_S1043P,Missense_S1249P exm2258520 7 94919594 [T/C] NM_017650,NM_001166160,NM_001166162,NM_001166163,NM_001166161 PPP1R9A,PPP1R9A,PPP1R9A,PPP1R9A,PPP1R9A EXON Synonymous_A1092A,Synonymous_A1368A,Synonymous_A1247A,Synonymous_A1084A,Synonymous_A1290A exm2275951 7 94919612 [A/G] NM_017650,NM_001166160,NM_001166162,NM_001166163,NM_001166161 PPP1R9A,PPP1R9A,PPP1R9A,PPP1R9A,PPP1R9A EXON Synonymous_Q1098Q,Synonymous_Q1374Q,Synonymous_Q1253Q,Synonymous_Q1090Q,Synonymous_Q1296Q exm-rs854555 7 94930391 [A/C] NM_000446 PON1 Silent exm635589 7 94931560 [T/A] NM_000446 PON1 EXON Missense_M289K exm635604 7 94937419 [A/G] NM_000446 PON1 EXON Missense_A201V exm635605 7 94937439 [T/C] NM_000446 PON1 EXON Nonsense_W194X exm635606 7 94937446 [T/C] NM_000446 PON1 EXON Missense_Q192R exm635609 7 94940782 [T/C] NM_000446 PON1 EXON Missense_R160G exm2157532 7 94940879 [A/C] NM_000446 PON1 EXON Missense_M127I exm635615 7 94940880 [A/C] NM_000446 PON1 EXON Missense_M127R exm635616 7 94940884 [T/C] NM_000446 PON1 EXON Missense_A126T exm635618 7 94944635 [T/C] NM_000446 PON1 EXON Synonymous_E123E exm2157533 7 94944636 [A/T] NM_000446 PON1 EXON Missense_E123V exm635623 7 94944735 [A/G] NM_000446 PON1 EXON Missense_L90P exm2258521 7 94945453 [T/C] NM_000446 PON1 Silent exm635632 7 94946084 [A/T] NM_000446 PON1 EXON Missense_L55M exm635634 7 94947635 [T/C] NM_000446 PON1 EXON Missense_E49K exm635637 7 94947661 [A/G] NM_000446 PON1 EXON Missense_P40L exm635646 7 94953733 [T/C] NM_000446 PON1 EXON Missense_N19D exm635647 7 94953771 [A/G] NM_000446 PON1 EXON Missense_A6V exm635658 7 94989379 [T/C] NM_000940 PON3 EXON Missense_G324D exm635663 7 94989434 [A/T] NM_000940 PON3 EXON Missense_I306F exm635667 7 94991674 [T/C] NM_000940 PON3 EXON Synonymous_E302E exm2258522 7 94991764 [A/G] NM_000940 PON3 EXON Synonymous_V272V exm635672 7 94991765 [A/G] NM_000940 PON3 EXON Missense_V272A exm635676 7 94992109 [A/G] NM_000940 PON3 EXON Missense_M247T exm635687 7 94993334 [T/G] NM_000940 PON3 EXON Missense_A179D exm635688 7 94993374 [T/C] NM_000940 PON3 EXON Missense_V166M exm635689 7 94996689 [T/C] NM_000940 PON3 EXON Missense_H160R exm635690 7 94996732 [T/C] NM_000940 PON3 EXON Missense_E146K exm635691 7 94996741 [A/G] NM_000940 PON3 EXON Missense_F143L exm635692 7 94996760 [A/C] NM_000940 PON3 EXON Missense_M136I exm2270771 7 95001132 [T/C] NM_000940 PON3 Silent exm635709 7 95024007 [A/G] NM_000940 PON3 EXON Nonsense_R32X exm635713 7 95025658 [T/C] NM_000940 PON3 EXON Missense_G2E exm635721 7 95034775 [G/C] NM_001018161,NM_000305 PON2,PON2 EXON Missense_S299C,Missense_S311C exm2157572 7 95039310 [T/G] NM_001018161,NM_000305 PON2,PON2 EXON Missense_H188N,Missense_H200N exm635751 7 95039394 [C/G] NM_001018161,NM_000305 PON2,PON2 EXON Missense_V160L,Missense_V172L exm635757 7 95041016 [C/G] NM_001018161,NM_000305 PON2,PON2 EXON Missense_A136G,Missense_A148G exm635762 7 95041633 [T/C] NM_001018161,NM_000305 PON2,PON2 EXON Missense_I120V,Missense_I120V exm635766 7 95041704 [G/C] NM_001018161,NM_000305 PON2,PON2 EXON Missense_R96T,Missense_R96T exm635771 7 95041788 [T/C] NM_001018161,NM_000305 PON2,PON2 EXON Missense_G68D,Missense_G68D exm635787 7 95115332 [G/C] NM_016116,NM_145872 ASB4,ASB4 EXON Missense_V17L,Missense_V17L exm635789 7 95115413 [A/G] NM_016116,NM_145872 ASB4,ASB4 EXON Missense_V44M,Missense_V44M exm635796 7 95125268 [A/G] NM_016116,NM_145872 ASB4,ASB4 EXON Missense_R129H,Missense_R129H exm635820 7 95157533 [A/G] NM_016116,NM_145872 ASB4,ASB4 EXON Missense_R299H,Missense_R299H exm2157594 7 95157665 [T/C] NM_016116,NM_145872 ASB4,ASB4 EXON Silent,Missense_A343V exm635824 7 95157685 [T/C] NM_016116,NM_145872 ASB4,ASB4 EXON Silent,Missense_X350Q exm635831 7 95166890 [T/G] NM_016116 ASB4 EXON Missense_W367L exm635832 7 95166923 [A/G] NM_016116 ASB4 EXON Missense_C378Y exm635856 7 95216744 [A/G] NM_002612 PDK4 EXON Missense_R323W exm635858 7 95216765 [T/C] NM_002612 PDK4 EXON Missense_T316A exm635868 7 95217057 [T/G] NM_002612 PDK4 EXON Missense_K284N exm635884 7 95222201 [T/C] NM_002612 PDK4 EXON Missense_M134V exm635886 7 95223029 [T/C] NM_002612 PDK4 EXON Missense_D109G exm2266449 7 95287743 [A/G] exm635908 7 95442510 [G/C] NM_004411,NM_001135557,NM_001135556 DYNC1I1,DYNC1I1,DYNC1I1 EXON Missense_Q76E,Silent,Silent exm635923 7 95606877 [A/C] NM_004411,NM_001135557,NM_001135556 DYNC1I1,DYNC1I1,DYNC1I1 EXON Missense_L199M,Missense_L162M,Missense_L182M exm2157639 7 95606896 [A/G] NM_004411,NM_001135557,NM_001135556 DYNC1I1,DYNC1I1,DYNC1I1 EXON Missense_K205R,Missense_K168R,Missense_K188R exm635939 7 95625371 [A/G] NM_004411,NM_001135557,NM_001135556 DYNC1I1,DYNC1I1,DYNC1I1 EXON Missense_V336I,Missense_V299I,Missense_V319I exm635963 7 95709727 [A/G] NM_004411,NM_001135557,NM_001135556 DYNC1I1,DYNC1I1,DYNC1I1 EXON Missense_R585H,Missense_R548H,Missense_R568H exm635965 7 95709792 [A/G] NM_004411,NM_001135557,NM_001135556 DYNC1I1,DYNC1I1,DYNC1I1 EXON Missense_V607I,Missense_V570I,Missense_V590I exm635974 7 95750621 [A/G] NM_014251,NM_001160210,NR_027662 SLC25A13,SLC25A13,SLC25A13 EXON Missense_V637A,Missense_V638A,Silent exm635986 7 95751224 [G/C] NM_014251,NM_001160210,NR_027662 SLC25A13,SLC25A13,SLC25A13 EXON Nonsense_Y559X,Nonsense_Y560X,Silent exm2157672 7 95751243 [T/C] NM_014251,NM_001160210,NR_027662 SLC25A13,SLC25A13,SLC25A13 EXON Missense_R553Q,Missense_R554Q,Silent exm635991 7 95751283 [A/G] NM_014251,NM_001160210,NR_027662 SLC25A13,SLC25A13,SLC25A13 EXON Missense_P540S,Missense_P541S,Silent exm635998 7 95761141 [A/G] NM_014251,NM_001160210,NR_027662 SLC25A13,SLC25A13,SLC25A13 EXON Missense_P502L,Missense_P503L,Silent exm636007 7 95775966 [T/C] NM_014251,NM_001160210,NR_027662 SLC25A13,SLC25A13,SLC25A13 EXON Missense_V452I,Missense_V453I,Silent exm636015 7 95800784 [T/G] NM_014251,NM_001160210,NR_027662 SLC25A13,SLC25A13,SLC25A13 EXON Synonymous_T410T,Synonymous_T411T,Silent exm2157687 7 95813588 [T/C] NM_014251,NM_001160210,NR_027662 SLC25A13,SLC25A13,SLC25A13 Silent,Silent,Silent exm636022 7 95813678 [A/C] NM_014251,NM_001160210,NR_027662 SLC25A13,SLC25A13,SLC25A13 EXON Missense_G363V,Missense_G364V,Silent exm636023 7 95813688 [A/G] NM_014251,NM_001160210,NR_027662 SLC25A13,SLC25A13,SLC25A13 EXON Nonsense_R360X,Nonsense_R361X,Silent exm636041 7 95822413 [T/C] NM_014251,NM_001160210,NR_027662 SLC25A13,SLC25A13,SLC25A13 EXON Missense_R184Q,Missense_R184Q,Silent exm2270652 7 95835862 [T/C] NM_014251,NM_001160210,NR_027662 SLC25A13,SLC25A13,SLC25A13 Silent,Silent,Silent exm636044 7 95838164 [T/C] NM_014251,NM_001160210,NR_027662 SLC25A13,SLC25A13,SLC25A13 EXON Missense_T152A,Missense_T152A,Silent exm-rs4729260 7 96117918 [G/C] NM_001201450,NM_001201451 C7orf76,C7orf76 Silent,Silent exm-rs7781370 7 96133531 [T/C] exm2266549 7 96139931 [A/G] exm2258526 7 96318266 [T/C] NM_006304 SHFM1 EXON Synonymous_E61E exm2266450 7 96410250 [A/G] exm-rs12669076 7 96415055 [T/C] exm-rs17598306 7 96581811 [T/C] exm636112 7 96635719 [G/C] NR_015448,NM_005222 DLX6-AS1,DLX6 EXON Silent,Missense_D144H exm636130 7 96650083 [A/G] NM_005221 DLX5 EXON Missense_H279Y exm636138 7 96650226 [T/C] NM_005221 DLX5 EXON Missense_R231H exm636155 7 96653697 [A/G] NM_005221 DLX5 EXON Missense_V80A exm636167 7 96747045 [T/C] NM_020186 ACN9 EXON Missense_R4W exm636177 7 96747192 [T/C] NM_020186 ACN9 EXON Missense_F53L exm636178 7 96810340 [T/C] NM_020186 ACN9 EXON Missense_L64S exm636180 7 96810397 [T/C] NM_020186 ACN9 EXON Missense_T83I exm636185 7 96810439 [A/C] NM_020186 ACN9 EXON Missense_Q97P exm636186 7 96810468 [A/G] NM_020186 ACN9 EXON Missense_E107K exm2266451 7 96989624 [A/G] exm2266550 7 97160675 [A/G] exm2270653 7 97207509 [T/G] exm636204 7 97369188 [A/G] NM_003182,NM_013996,NM_013997,NM_013998 TAC1,TAC1,TAC1,TAC1 EXON Missense_A116T,Missense_A98T,Missense_A101T,Missense_A83T exm636206 7 97369228 [A/G] NM_003182,NM_013996,NM_013997,NM_013998 TAC1,TAC1,TAC1,TAC1 EXON Missense_R129H,Missense_R111H,Missense_R114H,Missense_R96H exm636216 7 97482484 [A/G] NM_001673,NM_183356,NM_001178077,NM_133436,NM_001178076,NM_001178075 ASNS,ASNS,ASNS,ASNS,ASNS,ASNS EXON Missense_S455F,Missense_S455F,Missense_S372F,Missense_S455F,Missense_S372F,Missense_S434F exm636232 7 97487664 [T/C] NM_001673,NM_183356,NM_001178077,NM_133436,NM_001178076,NM_001178075 ASNS,ASNS,ASNS,ASNS,ASNS,ASNS EXON Missense_A277T,Missense_A277T,Missense_A194T,Missense_A277T,Missense_A194T,Missense_A256T exm636236 7 97488569 [A/T] NM_001673,NM_183356,NM_001178077,NM_133436,NM_001178076,NM_001178075 ASNS,ASNS,ASNS,ASNS,ASNS,ASNS EXON Missense_V210E,Missense_V210E,Missense_V127E,Missense_V210E,Missense_V127E,Missense_V189E exm636241 7 97488687 [T/C] NM_001673,NM_183356,NM_001178077,NM_133436,NM_001178076,NM_001178075 ASNS,ASNS,ASNS,ASNS,ASNS,ASNS EXON Missense_A171T,Missense_A171T,Missense_A88T,Missense_A171T,Missense_A88T,Missense_A150T exm636273 7 97617828 [A/G] NM_006188 OCM2 EXON Nonsense_Q32X exm-rs13438327 7 97620691 [A/G] exm636290 7 97770840 [C/G] NM_014916 LMTK2 EXON Missense_F121L exm-rs6465657 7 97816327 [T/C] NM_014916 LMTK2 Silent exm636335 7 97820120 [A/G] NM_014916 LMTK2 EXON Missense_N360S exm2258530 7 97820175 [T/C] NM_014916 LMTK2 EXON Synonymous_P378P exm2258531 7 97821070 [A/G] NM_014916 LMTK2 EXON Synonymous_P431P exm636345 7 97821218 [A/G] NM_014916 LMTK2 EXON Missense_A481T exm636352 7 97821279 [T/C] NM_014916 LMTK2 EXON Missense_T501M exm636361 7 97821486 [T/C] NM_014916 LMTK2 EXON Missense_A570V exm636367 7 97821560 [A/G] NM_014916 LMTK2 EXON Missense_V595I exm636375 7 97821662 [A/G] NM_014916 LMTK2 EXON Missense_E629K exm636377 7 97821682 [A/G] NM_014916 LMTK2 EXON Missense_I635M exm636383 7 97821824 [A/G] NM_014916 LMTK2 EXON Missense_G683S exm636384 7 97821849 [A/G] NM_014916 LMTK2 EXON Missense_R691H exm636385 7 97821855 [T/C] NM_014916 LMTK2 EXON Missense_I693T exm636386 7 97821864 [A/G] NM_014916 LMTK2 EXON Missense_S696N exm636388 7 97821881 [T/C] NM_014916 LMTK2 EXON Missense_S702P exm636394 7 97822115 [T/A] NM_014916 LMTK2 EXON Missense_L780M exm636401 7 97822224 [T/C] NM_014916 LMTK2 EXON Missense_P816L exm636407 7 97822268 [G/C] NM_014916 LMTK2 EXON Missense_P831A exm636409 7 97822305 [T/C] NM_014916 LMTK2 EXON Missense_T843M exm636411 7 97822322 [T/G] NM_014916 LMTK2 EXON Missense_V849F exm636414 7 97822361 [A/G] NM_014916 LMTK2 EXON Missense_A862T exm636421 7 97822506 [T/G] NM_014916 LMTK2 EXON Missense_S910I exm636432 7 97822708 [A/C] NM_014916 LMTK2 EXON Missense_S977R exm2258532 7 97822873 [T/C] NM_014916 LMTK2 EXON Synonymous_Y1032Y exm636442 7 97822873 [T/C] NM_014916 LMTK2 EXON Synonymous_Y1032Y exm636446 7 97822958 [A/G] NM_014916 LMTK2 EXON Missense_D1061N exm636447 7 97822973 [A/G] NM_014916 LMTK2 EXON Missense_G1066S exm2157836 7 97823189 [A/G] NM_014916 LMTK2 EXON Missense_E1138K exm636460 7 97823216 [A/G] NM_014916 LMTK2 EXON Missense_A1147T exm636465 7 97823316 [T/C] NM_014916 LMTK2 EXON Missense_P1180L exm636469 7 97823414 [A/G] NM_014916 LMTK2 EXON Missense_D1213N exm2246147 7 97823435 [A/G] NM_014916 LMTK2 EXON Missense_D1220N exm636475 7 97823487 [G/C] NM_014916 LMTK2 EXON Missense_A1237G exm636493 7 97823626 [A/T] NM_014916 LMTK2 EXON Missense_D1283E exm636502 7 97823726 [T/C] NM_014916 LMTK2 EXON Missense_P1317S exm636505 7 97823750 [A/G] NM_014916 LMTK2 EXON Missense_E1325K exm636509 7 97823799 [C/G] NM_014916 LMTK2 EXON Missense_A1341G exm636521 7 97832980 [A/G] NM_014916 LMTK2 EXON Missense_S1401N exm636531 7 97833403 [T/C] NM_014916 LMTK2 EXON Missense_P1463L exm636568 7 97846804 [G/C] NM_015395 TECPR1 EXON Missense_D1132E exm636577 7 97847327 [A/G] NM_015395 TECPR1 EXON Missense_T1062M exm636594 7 97852399 [A/G] NM_015395 TECPR1 EXON Missense_P944L exm636610 7 97857387 [T/C] NM_015395 TECPR1 EXON Missense_V818M exm636614 7 97858411 [T/C] NM_015395 TECPR1 EXON Missense_I784V exm2258534 7 97860299 [A/G] NM_015395 TECPR1 EXON Synonymous_H752H exm636625 7 97860378 [A/G] NM_015395 TECPR1 EXON Missense_P726L exm636627 7 97860427 [T/C] NM_015395 TECPR1 EXON Missense_A710T exm636632 7 97860573 [T/C] NM_015395 TECPR1 EXON Missense_R696H exm636635 7 97860610 [A/G] NM_015395 TECPR1 EXON Missense_Y684H exm636642 7 97861163 [A/G] NM_015395 TECPR1 EXON Missense_R643W exm636648 7 97861243 [T/C] NM_015395 TECPR1 EXON Missense_Q616R exm636664 7 97862265 [C/G] NM_015395 TECPR1 EXON Missense_H564Q exm636682 7 97862987 [T/C] NM_015395 TECPR1 EXON Missense_N473S exm636685 7 97863033 [T/C] NM_015395 TECPR1 EXON Missense_V458M exm636691 7 97863119 [A/G] NM_015395 TECPR1 EXON Missense_L429P exm636694 7 97863152 [A/G] NM_015395 TECPR1 EXON Missense_S418L exm636701 7 97863219 [T/C] NM_015395 TECPR1 EXON Missense_G396S exm2157918 7 97870222 [T/C] NM_015395 TECPR1 EXON Missense_G292R exm636721 7 97870556 [T/C] NM_015395 TECPR1 EXON Missense_V220M exm636724 7 97872893 [A/C] NM_015395 TECPR1 EXON Missense_K181N exm636735 7 97874212 [T/A] NM_015395 TECPR1 EXON Missense_E131D exm636740 7 97874361 [T/C] NM_015395 TECPR1 EXON Missense_G82S exm636742 7 97874379 [A/G] NM_015395 TECPR1 EXON Missense_R76C exm2270654 7 97874693 [T/C] NM_015395 TECPR1 Silent exm2157937 7 97875349 [T/C] NM_015395 TECPR1 EXON Missense_R37H exm2274248 7 97875443 [C/G] NM_015395 TECPR1 EXON Missense_L6V exm636772 7 97911713 [A/C] NM_001159491,NM_015379 BRI3,BRI3 EXON Missense_T65P,Missense_T65P exm2157940 7 97911717 [A/G] NM_001159491,NM_015379 BRI3,BRI3 EXON Missense_R66H,Missense_R66H exm636773 7 97911722 [A/C] NM_001159491,NM_015379 BRI3,BRI3 EXON Missense_P68T,Missense_P68T exm2275952 7 97921977 [T/C] NM_001159491,NM_018842 BRI3,BAIAP2L1 EXON Missense_T91M,Silent exm636802 7 97922864 [A/G] NM_018842 BAIAP2L1 EXON Missense_T502M exm636804 7 97922899 [T/G] NM_018842 BAIAP2L1 EXON Missense_N490K exm636812 7 97933515 [A/G] NM_018842 BAIAP2L1 EXON Missense_A472V exm636815 7 97933552 [T/A] NM_018842 BAIAP2L1 EXON Missense_S460T exm636819 7 97933588 [T/C] NM_018842 BAIAP2L1 EXON Missense_A448T exm636824 7 97933648 [T/C] NM_018842 BAIAP2L1 EXON Missense_E428K exm636834 7 97937004 [T/C] NM_018842 BAIAP2L1 EXON Missense_K387R exm636835 7 97937011 [T/C] NM_018842 BAIAP2L1 EXON Missense_V385M exm2277353 7 97937012 [T/G] NM_018842 BAIAP2L1 EXON Missense_D384E exm636841 7 97937061 [A/G] NM_018842 BAIAP2L1 EXON Missense_T368M exm636866 7 97941570 [T/C] NM_018842 BAIAP2L1 EXON Missense_E216K exm636871 7 97944903 [T/G] NM_018842 BAIAP2L1 EXON Missense_R170S exm2246154 7 97944912 [T/C] NM_018842 BAIAP2L1 EXON Missense_V167I exm636878 7 97946560 [T/C] NM_018842 BAIAP2L1 EXON Missense_A153T exm636882 7 97946646 [A/G] NM_018842 BAIAP2L1 EXON Missense_T124I exm636885 7 97949384 [T/C] NM_018842 BAIAP2L1 EXON Missense_V112M exm636890 7 97949583 [A/G] NM_018842 BAIAP2L1 EXON Missense_T81I exm636895 7 97984359 [T/C] NM_018842 BAIAP2L1 EXON Missense_E70G exm636897 7 97984389 [A/T] NM_018842 BAIAP2L1 EXON Missense_E60V exm636899 7 97984411 [T/C] NM_018842 BAIAP2L1 EXON Missense_D53N exm636901 7 97991670 [A/G] NM_018842 BAIAP2L1 EXON Synonymous_N42N exm636903 7 97991714 [A/G] NM_018842 BAIAP2L1 EXON Nonsense_R28X exm636904 7 97991720 [G/C] NM_018842 BAIAP2L1 EXON Missense_G26R exm2262385 7 98225036 [A/G] exm636912 7 98246958 [T/C] NM_002523 NPTX2 EXON Missense_A62V exm636925 7 98249102 [A/T] NM_002523 NPTX2 EXON Missense_S192T exm2258536 7 98254262 [A/G] NM_002523 NPTX2 EXON Synonymous_A224A exm636933 7 98254262 [A/G] NM_002523 NPTX2 EXON Synonymous_A224A exm636937 7 98254346 [C/G] NM_002523 NPTX2 EXON Missense_I252M exm636939 7 98254374 [T/C] NM_002523 NPTX2 EXON Missense_P262S exm636967 7 98257814 [A/G] NM_002523 NPTX2 EXON Missense_N390S exm636985 7 98445827 [A/G] NM_001134450,NM_001134451,NM_152913 TMEM130,TMEM130,TMEM130 EXON Missense_P387L,Missense_P273L,Missense_P375L exm2275231 7 98446205 [T/C] NM_001134450,NM_001134451,NM_152913 TMEM130,TMEM130,TMEM130 Silent,Silent,Silent exm2158002 7 98449104 [A/G] NM_001134450,NM_001134451,NM_152913 TMEM130,TMEM130,TMEM130 EXON Missense_R316W,Missense_R214W,Missense_R316W exm636996 7 98449130 [T/G] NM_001134450,NM_001134451,NM_152913 TMEM130,TMEM130,TMEM130 EXON Missense_D307A,Missense_D205A,Missense_D307A exm636997 7 98449157 [A/G] NM_001134450,NM_001134451,NM_152913 TMEM130,TMEM130,TMEM130 EXON Missense_A298V,Missense_A196V,Missense_A298V exm637001 7 98449223 [T/C] NM_001134450,NM_001134451,NM_152913 TMEM130,TMEM130,TMEM130 EXON Missense_R276H,Missense_R174H,Missense_R276H exm637007 7 98452881 [A/G] NM_001134450,NM_001134451,NM_152913 TMEM130,TMEM130,TMEM130 EXON Missense_T262I,Missense_T160I,Missense_T262I exm637012 7 98453658 [T/C] NM_001134450,NM_001134451,NM_152913 TMEM130,TMEM130,TMEM130 EXON Missense_A234T,Missense_A132T,Missense_A234T exm637015 7 98453680 [G/C] NM_001134450,NM_001134451,NM_152913 TMEM130,TMEM130,TMEM130 EXON Missense_K226N,Missense_K124N,Missense_K226N exm637016 7 98453693 [A/G] NM_001134450,NM_001134451,NM_152913 TMEM130,TMEM130,TMEM130 EXON Missense_T222M,Missense_T120M,Missense_T222M exm637019 7 98453742 [T/C] NM_001134450,NM_001134451,NM_152913 TMEM130,TMEM130,TMEM130 EXON Missense_V206M,Missense_V104M,Missense_V206M exm637044 7 98460829 [A/G] NM_001134450,NM_001134451,NM_152913 TMEM130,TMEM130,TMEM130 EXON Missense_R94C,Silent,Missense_R94C exm637047 7 98460879 [T/G] NM_001134450,NM_001134451,NM_152913 TMEM130,TMEM130,TMEM130 EXON Missense_T77N,Silent,Missense_T77N exm637048 7 98460910 [T/C] NM_001134450,NM_001134451,NM_152913 TMEM130,TMEM130,TMEM130 EXON Missense_A67T,Silent,Missense_A67T exm2258537 7 98461004 [A/G] NM_001134450,NM_001134451,NM_152913 TMEM130,TMEM130,TMEM130 EXON Synonymous_L35L,Silent,Synonymous_L35L exm2158020 7 98461008 [T/C] NM_001134450,NM_001134451,NM_152913 TMEM130,TMEM130,TMEM130 EXON Missense_N34S,Silent,Missense_N34S exm637075 7 98491422 [T/C] NM_001244580,NM_003496 TRRAP,TRRAP EXON Missense_T123M,Missense_T123M exm2158035 7 98495367 [T/C] NM_001244580,NM_003496 TRRAP,TRRAP EXON Missense_R171C,Missense_R171C exm2258538 7 98503849 [T/C] NM_001244580,NM_003496 TRRAP,TRRAP EXON Synonymous_G362G,Synonymous_G362G exm637111 7 98506462 [C/G] NM_001244580,NM_003496 TRRAP,TRRAP EXON Missense_E409D,Missense_E409D exm637117 7 98507766 [A/G] NM_001244580,NM_003496 TRRAP,TRRAP EXON Missense_V480M,Missense_V480M exm637119 7 98507794 [C/G] NM_001244580,NM_003496 TRRAP,TRRAP EXON Missense_T489S,Missense_T489S exm637128 7 98507898 [A/G] NM_001244580,NM_003496 TRRAP,TRRAP EXON Missense_V524M,Missense_V524M exm637136 7 98508145 [T/C] NM_001244580,NM_003496 TRRAP,TRRAP EXON Missense_I576T,Missense_I576T exm637147 7 98508859 [A/G] NM_001244580,NM_003496 TRRAP,TRRAP EXON Missense_M658V,Missense_M658V exm637150 7 98509724 [A/G] NM_001244580,NM_003496 TRRAP,TRRAP EXON Missense_R696H,Missense_R696H exm637173 7 98519568 [A/G] NM_001244580,NM_003496 TRRAP,TRRAP EXON Missense_M939V,Missense_M939V exm637210 7 98533278 [T/C] NM_001244580,NM_003496 TRRAP,TRRAP EXON Missense_P1364L,Missense_P1364L exm637277 7 98552764 [T/C] NM_001244580,NM_003496 TRRAP,TRRAP EXON Missense_A1918V,Missense_A1900V exm637292 7 98554065 [A/G] NM_001244580,NM_003496 TRRAP,TRRAP EXON Missense_N2040S,Missense_N2022S exm637293 7 98554070 [A/G] NM_001244580,NM_003496 TRRAP,TRRAP EXON Missense_V2042I,Missense_V2024I exm637295 7 98554134 [T/C] NM_001244580,NM_003496 TRRAP,TRRAP EXON Missense_T2063M,Missense_T2045M exm637300 7 98555640 [T/G] NM_001244580,NM_003496 TRRAP,TRRAP EXON Missense_S2083A,Missense_S2065A exm637304 7 98555703 [A/G] NM_001244580,NM_003496 TRRAP,TRRAP EXON Missense_V2104M,Missense_V2086M exm637322 7 98560033 [A/G] NM_001244580,NM_003496 TRRAP,TRRAP EXON Missense_N2264S,Missense_N2246S exm637325 7 98562294 [A/G] NM_001244580,NM_003496 TRRAP,TRRAP EXON Missense_S2284N,Missense_S2266N exm637329 7 98562344 [A/G] NM_001244580,NM_003496 TRRAP,TRRAP EXON Missense_V2301I,Missense_V2283I exm637340 7 98565233 [A/G] NM_001244580,NM_003496 TRRAP,TRRAP EXON Missense_R2468H,Missense_R2450H exm637346 7 98565316 [A/G] NM_001244580,NM_003496 TRRAP,TRRAP EXON Missense_I2496V,Missense_I2478V exm2258539 7 98567746 [T/C] NM_001244580,NM_003496 TRRAP,TRRAP EXON Synonymous_A2501A,Synonymous_A2483A exm637365 7 98573779 [T/C] NM_001244580,NM_003496 TRRAP,TRRAP EXON Missense_A2609V,Missense_A2591V exm637367 7 98573791 [G/C] NM_001244580,NM_003496 TRRAP,TRRAP EXON Missense_A2613G,Missense_A2595G exm2274249 7 98574585 [C/G] NM_001244580,NM_003496 TRRAP,TRRAP EXON Missense_E2750D,Missense_E2732D exm637419 7 98581725 [A/C] NM_001244580,NM_003496 TRRAP,TRRAP EXON Missense_T3015N,Missense_T2986N exm637426 7 98581955 [A/G] NM_001244580,NM_003496 TRRAP,TRRAP EXON Missense_V3092I,Missense_V3063I exm637457 7 98601827 [A/G] NM_001244580,NM_003496 TRRAP,TRRAP EXON Missense_V3428I,Missense_V3399I exm637460 7 98602014 [T/C] NM_001244580,NM_003496 TRRAP,TRRAP EXON Missense_T3490M,Missense_T3461M exm637483 7 98608778 [T/C] NM_001244580,NM_003496 TRRAP,TRRAP EXON Missense_T3667M,Missense_T3638M exm637484 7 98608789 [T/A] NM_001244580,NM_003496 TRRAP,TRRAP EXON Missense_M3671L,Missense_M3642L exm637489 7 98609012 [A/G] NM_001244580,NM_003496 TRRAP,TRRAP EXON Missense_A3717T,Missense_A3688T exm637505 7 98609772 [T/C] NM_001244580,NM_003496 TRRAP,TRRAP EXON Missense_P3792S,Missense_P3763S exm2258540 7 98639759 [T/C] NM_001199847,NM_181349,NM_020429 SMURF1,SMURF1,SMURF1 EXON Synonymous_P451P,Synonymous_P451P,Synonymous_P477P exm637598 7 98648560 [A/G] NM_001199847,NM_181349,NM_020429 SMURF1,SMURF1,SMURF1 EXON Silent,Silent,Nonsense_Q288X exm637600 7 98648610 [A/G] NM_001199847,NM_181349,NM_020429 SMURF1,SMURF1,SMURF1 EXON Silent,Silent,Missense_S271L exm637609 7 98649896 [T/C] NM_001199847,NM_181349,NM_020429 SMURF1,SMURF1,SMURF1 EXON Missense_R218Q,Missense_R218Q,Missense_R218Q exm637610 7 98649902 [A/T] NM_001199847,NM_181349,NM_020429 SMURF1,SMURF1,SMURF1 EXON Missense_D216V,Missense_D216V,Missense_D216V exm637612 7 98649964 [C/G] NM_001199847,NM_181349,NM_020429 SMURF1,SMURF1,SMURF1 EXON Missense_C195W,Missense_C195W,Missense_C195W exm2266453 7 98681222 [A/G] NM_001199847,NM_181349,NM_020429 SMURF1,SMURF1,SMURF1 Silent,Silent,Silent exm2246171 7 98775592 [T/C] NM_001145715 KPNA7 EXON Missense_R472H exm637642 7 98775688 [A/G] NM_001145715 KPNA7 EXON Missense_A440V exm2246172 7 98779571 [G/C] NM_001145715 KPNA7 EXON Missense_L418V exm637659 7 98786000 [A/G] NM_001145715 KPNA7 EXON Missense_R275C exm2158290 7 98790650 [T/G] NM_001145715 KPNA7 EXON Missense_T210P exm2258541 7 98790669 [G/C] NM_001145715 KPNA7 EXON Synonymous_L203L exm637667 7 98792782 [G/C] NM_001145715 KPNA7 EXON Missense_G155A exm637721 7 98956027 [G/C] NM_006409,NM_001190996 ARPC1A,ARPC1A EXON Missense_V260L,Missense_V246L exm-rs740160 7 98957880 [T/C] NM_006409,NM_001190996 ARPC1A,ARPC1A Silent,Silent exm637735 7 98983388 [C/G] NM_005720 ARPC1B EXON Missense_N17K exm637741 7 98984354 [C/G] NM_005720 ARPC1B EXON Missense_K37N exm637755 7 98985779 [A/G] NM_005720 ARPC1B EXON Missense_N96S exm2246173 7 98987559 [T/C] NM_005720 ARPC1B EXON Missense_R142C exm637762 7 98987580 [T/G] NM_005720 ARPC1B EXON Missense_D149Y exm637775 7 98988614 [A/G] NM_005720 ARPC1B EXON Missense_S200N exm637783 7 98988709 [A/G] NM_005720 ARPC1B EXON Missense_D232N exm637786 7 98988805 [A/G] NM_005720 ARPC1B EXON Missense_A238T exm637792 7 98990344 [A/G] NM_005720 ARPC1B EXON Missense_M278I exm637801 7 98991678 [A/G] NM_005720 ARPC1B EXON Missense_K339R exm637804 7 98991711 [T/G] NM_005720 ARPC1B EXON Missense_M350R exm637809 7 98992084 [T/C] NM_005720 ARPC1B EXON Missense_S364L exm637818 7 98994319 [A/G] NM_014891 PDAP1 EXON Missense_S178P exm637823 7 98995517 [T/G] NM_014891 PDAP1 EXON Missense_E152A exm2158346 7 98995610 [T/C] NM_014891 PDAP1 EXON Missense_K121R exm2158354 7 99001033 [T/A] NM_014891 PDAP1 EXON Missense_E67D exm637864 7 99015144 [T/C] NM_003910,NM_001198879,NM_015545 BUD31,ATP5J2-PTCD1,PTCD1 EXON Missense_R104W,Silent,Silent exm637882 7 99017607 [T/C] NM_001198879,NM_015545 ATP5J2-PTCD1,PTCD1 EXON Missense_A745T,Missense_A696T exm637887 7 99017641 [T/G] NM_001198879,NM_015545 ATP5J2-PTCD1,PTCD1 EXON Missense_D733E,Missense_D684E exm637889 7 99017660 [T/C] NM_001198879,NM_015545 ATP5J2-PTCD1,PTCD1 EXON Missense_R727Q,Missense_R678Q exm637893 7 99017694 [T/C] NM_001198879,NM_015545 ATP5J2-PTCD1,PTCD1 EXON Missense_A716T,Missense_A667T exm637902 7 99017771 [T/C] NM_001198879,NM_015545 ATP5J2-PTCD1,PTCD1 EXON Missense_Y690C,Missense_Y641C exm637907 7 99021504 [T/C] NM_001198879,NM_015545 ATP5J2-PTCD1,PTCD1 EXON Missense_Y654C,Missense_Y605C exm637912 7 99022443 [C/G] NM_001198879,NM_015545 ATP5J2-PTCD1,PTCD1 EXON Missense_G620A,Missense_G571A exm637922 7 99022641 [A/G] NM_001198879,NM_015545 ATP5J2-PTCD1,PTCD1 EXON Missense_S554F,Missense_S505F exm637923 7 99022752 [A/G] NM_001198879,NM_015545 ATP5J2-PTCD1,PTCD1 EXON Missense_I517T,Missense_I468T exm637935 7 99022854 [A/G] NM_001198879,NM_015545 ATP5J2-PTCD1,PTCD1 EXON Missense_P483L,Missense_P434L exm637942 7 99022921 [A/G] NM_001198879,NM_015545 ATP5J2-PTCD1,PTCD1 EXON Missense_P461S,Missense_P412S exm637943 7 99022933 [T/C] NM_001198879,NM_015545 ATP5J2-PTCD1,PTCD1 EXON Missense_G457S,Missense_G408S exm637946 7 99022950 [A/G] NM_001198879,NM_015545 ATP5J2-PTCD1,PTCD1 EXON Missense_P451L,Missense_P402L exm637957 7 99023149 [A/C] NM_001198879,NM_015545 ATP5J2-PTCD1,PTCD1 EXON Missense_D385Y,Missense_D336Y exm637959 7 99023205 [A/G] NM_001198879,NM_015545 ATP5J2-PTCD1,PTCD1 EXON Missense_P366L,Missense_P317L exm637961 7 99023238 [A/C] NM_001198879,NM_015545 ATP5J2-PTCD1,PTCD1 EXON Missense_V355G,Missense_V306G exm637964 7 99026740 [A/G] NM_001198879,NM_015545 ATP5J2-PTCD1,PTCD1 EXON Missense_R350W,Missense_R301W exm637965 7 99026775 [A/G] NM_001198879,NM_015545 ATP5J2-PTCD1,PTCD1 EXON Missense_L338P,Missense_L289P exm637970 7 99027269 [A/G] NM_001198879,NM_015545 ATP5J2-PTCD1,PTCD1 EXON Missense_A301V,Missense_A252V exm637972 7 99027321 [A/G] NM_001198879,NM_015545 ATP5J2-PTCD1,PTCD1 EXON Missense_R284W,Missense_R235W exm637975 7 99027366 [T/C] NM_001198879,NM_015545 ATP5J2-PTCD1,PTCD1 EXON Missense_E269K,Missense_E220K exm637980 7 99030926 [T/C] NM_001198879,NM_015545 ATP5J2-PTCD1,PTCD1 EXON Missense_K239R,Missense_K190R exm637987 7 99030992 [T/C] NM_001198879,NM_015545 ATP5J2-PTCD1,PTCD1 EXON Missense_R217Q,Missense_R168Q exm637993 7 99032471 [T/C] NM_001198879,NM_015545 ATP5J2-PTCD1,PTCD1 EXON Missense_R181Q,Missense_R132Q exm637995 7 99032517 [A/G] NM_001198879,NM_015545 ATP5J2-PTCD1,PTCD1 EXON Missense_R166W,Missense_R117W exm637996 7 99032528 [A/C] NM_001198879,NM_015545 ATP5J2-PTCD1,PTCD1 EXON Missense_R162L,Missense_R113L exm637997 7 99032529 [A/G] NM_001198879,NM_015545 ATP5J2-PTCD1,PTCD1 EXON Missense_R162W,Missense_R113W exm637999 7 99032559 [A/G] NM_001198879,NM_015545 ATP5J2-PTCD1,PTCD1 EXON Missense_R152C,Missense_R103C exm638003 7 99032571 [A/G] NM_001198879,NM_015545 ATP5J2-PTCD1,PTCD1 EXON Missense_R148W,Missense_R99W exm638018 7 99032735 [A/G] NM_001198879,NM_015545 ATP5J2-PTCD1,PTCD1 EXON Missense_A93V,Missense_A44V exm638021 7 99032781 [T/C] NM_001198879,NM_015545 ATP5J2-PTCD1,PTCD1 EXON Missense_A78T,Missense_A29T exm638022 7 99032801 [T/C] NM_001198879,NM_015545 ATP5J2-PTCD1,PTCD1 EXON Missense_Q71R,Missense_Q22R exm638024 7 99032813 [A/G] NM_001198879,NM_015545 ATP5J2-PTCD1,PTCD1 EXON Missense_L67P,Missense_L18P exm638025 7 99032822 [T/G] NM_001198879,NM_015545 ATP5J2-PTCD1,PTCD1 EXON Missense_P64H,Missense_P15H exm638087 7 99055969 [T/C] NM_001198879,NM_004889,NM_001003714,NM_001003713,NM_001039178 ATP5J2-PTCD1,ATP5J2,ATP5J2,ATP5J2,ATP5J2 EXON Silent,Missense_R89Q,Missense_R50Q,Missense_R83Q,Missense_R44Q exm638089 7 99056770 [T/G] NM_001198879,NM_004889,NM_001003714,NM_001003713,NM_001039178 ATP5J2-PTCD1,ATP5J2,ATP5J2,ATP5J2,ATP5J2 EXON Silent,Missense_K86Q,Silent,Missense_K80Q,Silent exm638103 7 99063739 [C/G] NM_001198879,NM_004889,NM_001003714,NM_001003713,NM_001039178 ATP5J2-PTCD1,ATP5J2,ATP5J2,ATP5J2,ATP5J2 EXON Silent,Missense_A9G,Missense_A9G,Silent,Silent exm638128 7 99081730 [A/G] NM_213603 ZNF789 EXON Missense_T77A exm638134 7 99084192 [A/C] NM_213603 ZNF789 EXON Missense_E120A exm638136 7 99084228 [A/G] NM_213603 ZNF789 EXON Missense_C132Y exm638141 7 99084275 [A/G] NM_213603 ZNF789 EXON Missense_D148N exm638142 7 99084276 [A/G] NM_213603 ZNF789 EXON Missense_D148G exm638143 7 99084282 [A/G] NM_213603 ZNF789 EXON Missense_Y150C exm638146 7 99084354 [A/G] NM_213603 ZNF789 EXON Missense_R174K exm638160 7 99084555 [A/G] NM_213603 ZNF789 EXON Missense_R241Q exm638161 7 99084567 [T/C] NM_213603 ZNF789 EXON Missense_T245M exm638168 7 99084657 [A/G] NM_213603 ZNF789 EXON Missense_H275R exm638171 7 99084746 [A/G] NM_213603 ZNF789 EXON Missense_V305M exm638173 7 99084756 [A/G] NM_213603 ZNF789 EXON Missense_S308N exm638182 7 99085071 [T/C] NM_213603 ZNF789 EXON Missense_I413T exm638183 7 99085103 [T/C] NM_213603 ZNF789 EXON Missense_S424P exm638191 7 99091172 [A/G] NM_032164 ZNF394 EXON Missense_R556C exm638192 7 99091174 [T/C] NM_032164 ZNF394 EXON Missense_G555E exm638194 7 99091180 [A/G] NM_032164 ZNF394 EXON Missense_S553L exm638219 7 99091864 [A/G] NM_032164 ZNF394 EXON Missense_T325M exm638226 7 99092128 [T/C] NM_032164 ZNF394 EXON Missense_S237N exm638228 7 99092152 [T/C] NM_032164 ZNF394 EXON Missense_R229H exm638229 7 99092167 [A/G] NM_032164 ZNF394 EXON Missense_A224V exm638230 7 99092174 [A/G] NM_032164 ZNF394 EXON Nonsense_Q222X exm638233 7 99092194 [A/G] NM_032164 ZNF394 EXON Missense_A215V exm638240 7 99096381 [T/C] NM_032164 ZNF394 EXON Missense_R181G exm638244 7 99097313 [A/G] NM_032164 ZNF394 EXON Missense_A135V exm638258 7 99097533 [T/C] NM_032164 ZNF394 EXON Missense_T62A exm638262 7 99097613 [C/G] NM_032164 ZNF394 EXON Missense_G35A exm638266 7 99097694 [T/C] NM_032164 ZNF394 EXON Missense_Q8R exm638269 7 99103684 [T/C] NM_145102,NM_014569 ZKSCAN5,ZKSCAN5 EXON Missense_S6F,Missense_S6F exm638278 7 99104080 [A/G] NM_145102,NM_014569 ZKSCAN5,ZKSCAN5 EXON Missense_Q138R,Missense_Q138R exm638283 7 99110213 [T/C] NM_145102,NM_014569 ZKSCAN5,ZKSCAN5 EXON Synonymous_N184N,Synonymous_N184N exm638284 7 99117452 [T/C] NM_145102,NM_014569 ZKSCAN5,ZKSCAN5 EXON Missense_L186F,Missense_L186F exm-rs11761528 7 99118801 [T/C] NM_145102,NM_014569 ZKSCAN5,ZKSCAN5 Silent,Silent exm638300 7 99123669 [T/C] NM_145102,NM_014569 ZKSCAN5,ZKSCAN5 EXON Missense_P336S,Missense_P336S exm638303 7 99123725 [A/C] NM_145102,NM_014569 ZKSCAN5,ZKSCAN5 EXON Missense_F354L,Missense_F354L exm2158491 7 99123967 [A/G] NM_145102,NM_014569 ZKSCAN5,ZKSCAN5 EXON Missense_C435Y,Missense_C435Y exm638317 7 99128746 [A/G] NM_145102,NM_014569 ZKSCAN5,ZKSCAN5 EXON Missense_S465N,Missense_S465N exm638318 7 99128797 [T/C] NM_145102,NM_014569 ZKSCAN5,ZKSCAN5 EXON Missense_A482V,Missense_A482V exm638320 7 99128827 [T/G] NM_145102,NM_014569 ZKSCAN5,ZKSCAN5 EXON Missense_R492I,Missense_R492I exm638321 7 99128842 [T/G] NM_145102,NM_014569 ZKSCAN5,ZKSCAN5 EXON Missense_V497G,Missense_V497G exm638322 7 99128848 [A/G] NM_145102,NM_014569 ZKSCAN5,ZKSCAN5 EXON Missense_D499G,Missense_D499G exm638351 7 99129505 [A/T] NM_145102,NM_014569 ZKSCAN5,ZKSCAN5 EXON Missense_Q718L,Missense_Q718L exm638360 7 99129744 [G/C] NM_145102,NM_014569 ZKSCAN5,ZKSCAN5 EXON Missense_E798Q,Missense_E798Q exm638371 7 99144787 [T/C] NM_145111 FAM200A EXON Missense_C415Y exm638383 7 99145268 [T/G] NM_145111 FAM200A EXON Missense_P255T exm638386 7 99145422 [T/C] NM_145111 FAM200A EXON Nonsense_W203X exm638398 7 99145678 [C/G] NM_145111 FAM200A EXON Missense_R118P exm638401 7 99145877 [A/G] NM_145111 FAM200A EXON Missense_R52C exm638402 7 99145927 [T/C] NM_145111 FAM200A EXON Missense_H35R exm638410 7 99158216 [T/A] NM_138494,NM_024061,NM_001085366,NM_001083956,NM_001009958,NM_001085368,NM_001085367,NM_001009960 ZNF655,ZNF655,ZNF655,ZNF655,ZNF655,ZNF655,ZNF655,ZNF655 EXON Missense_S12T,Missense_S12T,Missense_S12T,Missense_S12T,Missense_S12T,Missense_S12T,Missense_S12T,Missense_S12T exm638415 7 99159522 [C/G] NM_138494,NM_024061,NM_001085366,NM_001083956,NM_001009958,NM_001085368,NM_001085367,NM_001009960 ZNF655,ZNF655,ZNF655,ZNF655,ZNF655,ZNF655,ZNF655,ZNF655 EXON Silent,Missense_P50A,Silent,Silent,Silent,Silent,Missense_P50A,Silent exm638417 7 99159543 [T/C] NM_138494,NM_024061,NM_001085366,NM_001083956,NM_001009958,NM_001085368,NM_001085367,NM_001009960 ZNF655,ZNF655,ZNF655,ZNF655,ZNF655,ZNF655,ZNF655,ZNF655 EXON Silent,Missense_R57C,Silent,Silent,Silent,Silent,Missense_R57C,Silent exm638418 7 99159574 [T/C] NM_138494,NM_024061,NM_001085366,NM_001083956,NM_001009958,NM_001085368,NM_001085367,NM_001009960 ZNF655,ZNF655,ZNF655,ZNF655,ZNF655,ZNF655,ZNF655,ZNF655 EXON Silent,Missense_A67V,Silent,Silent,Silent,Silent,Missense_A67V,Silent exm638424 7 99160079 [T/A] NM_138494,NM_024061,NM_001085366,NM_001083956,NM_001009958,NM_001085368,NM_001085367,NM_001009960 ZNF655,ZNF655,ZNF655,ZNF655,ZNF655,ZNF655,ZNF655,ZNF655 EXON Silent,Missense_E104V,Silent,Silent,Silent,Silent,Missense_E104V,Silent exm638425 7 99160084 [A/G] NM_138494,NM_024061,NM_001085366,NM_001083956,NM_001009958,NM_001085368,NM_001085367,NM_001009960 ZNF655,ZNF655,ZNF655,ZNF655,ZNF655,ZNF655,ZNF655,ZNF655 EXON Silent,Missense_M106V,Silent,Silent,Silent,Silent,Missense_M106V,Silent exm638428 7 99161485 [A/G] NM_138494,NM_024061,NM_001085366,NM_001083956,NM_001009958,NM_001085368,NM_001085367,NM_001009960 ZNF655,ZNF655,ZNF655,ZNF655,ZNF655,ZNF655,ZNF655,ZNF655 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm2158512 7 99161518 [A/C] NM_138494,NM_024061,NM_001085366,NM_001083956,NM_001009958,NM_001085368,NM_001085367,NM_001009960 ZNF655,ZNF655,ZNF655,ZNF655,ZNF655,ZNF655,ZNF655,ZNF655 EXON Silent,Missense_H128N,Missense_H57N,Silent,Missense_H57N,Silent,Missense_H128N,Silent exm638439 7 99161587 [A/G] NM_138494,NM_024061,NM_001085366,NM_001083956,NM_001009958,NM_001085368,NM_001085367,NM_001009960 ZNF655,ZNF655,ZNF655,ZNF655,ZNF655,ZNF655,ZNF655,ZNF655 EXON Silent,Missense_V151I,Missense_V80I,Silent,Missense_V80I,Silent,Missense_V151I,Silent exm638457 7 99170132 [T/C] NM_138494,NM_001083956,NM_001085368,NM_001009960 ZNF655,ZNF655,ZNF655,ZNF655 EXON Missense_P134L,Missense_P169L,Missense_P169L,Missense_P134L exm638458 7 99170134 [A/G] NM_138494,NM_001083956,NM_001085368,NM_001009960 ZNF655,ZNF655,ZNF655,ZNF655 EXON Missense_E135K,Missense_E170K,Missense_E170K,Missense_E135K exm2158518 7 99170144 [T/C] NM_138494,NM_001083956,NM_001085368,NM_001009960 ZNF655,ZNF655,ZNF655,ZNF655 EXON Missense_F138S,Missense_F173S,Missense_F173S,Missense_F138S exm638460 7 99170176 [A/G] NM_138494,NM_001083956,NM_001085368,NM_001009960 ZNF655,ZNF655,ZNF655,ZNF655 EXON Missense_R149G,Missense_R184G,Missense_R184G,Missense_R149G exm638466 7 99170338 [A/G] NM_138494,NM_001083956,NM_001085368,NM_001009960 ZNF655,ZNF655,ZNF655,ZNF655 EXON Missense_E203K,Missense_E238K,Missense_E238K,Missense_E203K exm638477 7 99170533 [T/C] NM_138494,NM_001083956,NM_001085368,NM_001009960 ZNF655,ZNF655,ZNF655,ZNF655 EXON Missense_Y268H,Missense_Y303H,Missense_Y303H,Missense_Y268H exm638479 7 99170711 [A/G] NM_138494,NM_001083956,NM_001085368,NM_001009960 ZNF655,ZNF655,ZNF655,ZNF655 EXON Missense_E327G,Missense_E362G,Missense_E362G,Missense_E327G exm638489 7 99170965 [A/G] NM_138494,NM_001083956,NM_001085368,NM_001009960 ZNF655,ZNF655,ZNF655,ZNF655 EXON Missense_E412K,Missense_E447K,Missense_E447K,Missense_E412K exm638501 7 99171127 [T/G] NM_138494,NM_001083956,NM_001085368,NM_001009960 ZNF655,ZNF655,ZNF655,ZNF655 EXON Missense_C466G,Missense_C501G,Missense_C501G,Missense_C466G exm-rs7792939 7 99207876 [T/C] NM_001195541,NM_001195543,NM_001195542 LOC100289187,LOC100289187,LOC100289187 Silent,Silent,Silent exm638507 7 99208014 [A/G] NM_001195541,NM_001195543,NM_001195542 LOC100289187,LOC100289187,LOC100289187 Silent,Silent,Silent exm638513 7 99217353 [T/C] NM_145115 ZSCAN25 EXON Missense_R42W exm638522 7 99217536 [T/C] NM_145115 ZSCAN25 EXON Missense_R103W exm638523 7 99217543 [A/G] NM_145115 ZSCAN25 EXON Missense_H105R exm638533 7 99220177 [T/C] NM_145115 ZSCAN25 EXON Missense_P199S exm2158537 7 99220196 [G/C] NM_145115 ZSCAN25 EXON Missense_P205R exm2158542 7 99221731 [A/G] NM_145115 ZSCAN25 EXON Missense_R245G exm638553 7 99226927 [A/G] NM_145115 ZSCAN25 EXON Missense_G307R exm638560 7 99227020 [T/G] NM_145115 ZSCAN25 EXON Missense_V338F exm638561 7 99227027 [T/C] NM_145115 ZSCAN25 EXON Missense_T340I exm2258543 7 99227172 [A/G] NM_145115 ZSCAN25 EXON Synonymous_E388E exm2246192 7 99245974 [A/G] NR_033807,NM_000777,NR_033808,NR_033809 CYP3A5,CYP3A5,CYP3A5,CYP3A5 EXON Silent,Missense_I488T,Silent,Silent exm638602 7 99250236 [T/G] NR_033807,NM_000777,NR_033808,NR_033809 CYP3A5,CYP3A5,CYP3A5,CYP3A5 EXON Silent,Missense_T398N,Silent,Silent exm638606 7 99250381 [T/C] NR_033807,NM_000777,NR_033808,NR_033809 CYP3A5,CYP3A5,CYP3A5,CYP3A5 EXON Silent,Missense_V350M,Silent,Silent exm-IND7-99088329 7 99250394 [I/D] NR_033807,NM_000777,NR_033808,NR_033809 CYP3A5,CYP3A5,CYP3A5,CYP3A5 EXON exm638608 7 99258153 [T/G] NR_033807,NM_000777,NR_033808,NR_033809,NR_033811,NR_033810,NR_033812 CYP3A5,CYP3A5,CYP3A5,CYP3A5,CYP3A5,CYP3A5,CYP3A5 EXON Silent,Missense_Q332P,Silent,Silent,Silent,Silent,Silent exm638617 7 99260477 [A/G] NR_033807,NM_000777,NR_033808,NR_033809,NR_033811,NR_033810,NR_033812 CYP3A5,CYP3A5,CYP3A5,CYP3A5,CYP3A5,CYP3A5,CYP3A5 EXON Silent,Missense_I276T,Silent,Silent,Silent,Silent,Silent exm638620 7 99261643 [T/A] NR_033807,NM_000777,NR_033808,NR_033809,NR_033811,NR_033810,NR_033812 CYP3A5,CYP3A5,CYP3A5,CYP3A5,CYP3A5,CYP3A5,CYP3A5 EXON Silent,Nonsense_L249X,Silent,Silent,Silent,Silent,Silent exm638635 7 99264299 [A/G] NR_033807,NM_000777,NR_033808,NR_033809,NR_033811,NR_033810,NR_033812 CYP3A5,CYP3A5,CYP3A5,CYP3A5,CYP3A5,CYP3A5,CYP3A5 EXON Silent,Missense_I149T,Silent,Silent,Silent,Silent,Silent exm2158566 7 99264573 [A/G] NR_033807,NM_000777,NR_033808,NR_033809,NR_033811,NR_033810,NR_033812 CYP3A5,CYP3A5,CYP3A5,CYP3A5,CYP3A5,CYP3A5,CYP3A5 Silent,Silent,Silent,Silent,Silent,Silent,Silent exm2266552 7 99266318 [A/G] NR_033807,NM_000777,NR_033808,NR_033809,NR_033811,NR_033810,NR_033812 CYP3A5,CYP3A5,CYP3A5,CYP3A5,CYP3A5,CYP3A5,CYP3A5 Silent,Silent,Silent,Silent,Silent,Silent,Silent exm638644 7 99269397 [T/C] NR_033807,NM_000777,NR_033808,NR_033809,NR_033811,NR_033810,NR_033812,NM_001190484 CYP3A5,CYP3A5,CYP3A5,CYP3A5,CYP3A5,CYP3A5,CYP3A5,CYP3A5 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_X141W exm638645 7 99270222 [T/G] NR_033807,NM_000777,NR_033808,NR_033809,NR_033811,NR_033810,NR_033812,NM_001190484 CYP3A5,CYP3A5,CYP3A5,CYP3A5,CYP3A5,CYP3A5,CYP3A5,CYP3A5 EXON Silent,Missense_S100Y,Silent,Silent,Silent,Silent,Silent,Missense_S100Y exm638648 7 99270276 [A/C] NR_033807,NM_000777,NR_033808,NR_033809,NR_033811,NR_033810,NR_033812,NM_001190484 CYP3A5,CYP3A5,CYP3A5,CYP3A5,CYP3A5,CYP3A5,CYP3A5,CYP3A5 EXON Silent,Missense_L82R,Silent,Silent,Silent,Silent,Silent,Missense_L82R exm638652 7 99273815 [A/G] NR_033807,NM_000777,NR_033808,NR_033809,NR_033811,NR_033810,NR_033812,NM_001190484 CYP3A5,CYP3A5,CYP3A5,CYP3A5,CYP3A5,CYP3A5,CYP3A5,CYP3A5 EXON Silent,Missense_H30Y,Silent,Silent,Silent,Silent,Silent,Missense_H30Y exm638683 7 99306709 [A/G] NM_001256497,NM_000765 CYP3A7-CYP3AP1,CYP3A7 EXON Missense_L401P,Missense_L401P exm638701 7 99312240 [T/C] NM_001256497,NM_000765 CYP3A7-CYP3AP1,CYP3A7 EXON Missense_I246V,Missense_I246V exm638708 7 99313444 [A/G] NM_001256497,NM_000765 CYP3A7-CYP3AP1,CYP3A7 EXON Missense_F203L,Missense_F203L exm638727 7 99319925 [A/G] NM_001256497,NM_000765 CYP3A7-CYP3AP1,CYP3A7 EXON Missense_V71A,Missense_V71A exm638752 7 99358581 [T/C] NM_017460,NM_001202855 CYP3A4,CYP3A4 EXON Missense_N426S,Missense_N425S exm638758 7 99359710 [A/G] NM_017460,NM_001202855 CYP3A4,CYP3A4 EXON Missense_R403C,Missense_R402C exm638762 7 99359800 [A/G] NM_017460,NM_001202855 CYP3A4,CYP3A4 EXON Missense_L373F,Missense_L372F exm638766 7 99359829 [A/G] NM_017460,NM_001202855 CYP3A4,CYP3A4 EXON Missense_T363M,Missense_T362M exm638777 7 99361626 [A/G] NM_017460,NM_001202855 CYP3A4,CYP3A4 EXON Missense_L293P,Missense_L292P exm638786 7 99365983 [A/G] NM_017460,NM_001202855 CYP3A4,CYP3A4 EXON Missense_S222P,Missense_S222P exm2274250 7 99365994 [C/G] NM_017460,NM_001202855 CYP3A4,CYP3A4 EXON Missense_P218R,Missense_P218R exm638787 7 99366047 [T/A] NM_017460,NM_001202855 CYP3A4,CYP3A4 EXON Missense_Q200H,Missense_Q200H exm638800 7 99367788 [T/C] NM_017460,NM_001202855 CYP3A4,CYP3A4 EXON Missense_R130Q,Missense_R130Q exm2274251 7 99367825 [T/C] NM_017460,NM_001202855 CYP3A4,CYP3A4 EXON Missense_I118V,Missense_I118V exm638808 7 99375669 [T/C] NM_017460,NM_001202855 CYP3A4,CYP3A4 EXON Missense_K67R,Missense_K67R exm638811 7 99375702 [T/C] NM_017460,NM_001202855 CYP3A4,CYP3A4 EXON Missense_G56D,Missense_G56D exm638827 7 99425772 [T/C] NM_057096,NM_022820,NM_057095 CYP3A43,CYP3A43,CYP3A43 EXON Missense_W12R,Missense_W12R,Missense_W12R exm638834 7 99436743 [G/C] NM_057096,NM_022820,NM_057095 CYP3A43,CYP3A43,CYP3A43 EXON Missense_G56R,Missense_G56R,Missense_G56R exm2158647 7 99436781 [C/G] NM_057096,NM_022820,NM_057095 CYP3A43,CYP3A43,CYP3A43 EXON Nonsense_Y68X,Nonsense_Y68X,Nonsense_Y68X exm2158648 7 99436785 [A/G] NM_057096,NM_022820,NM_057095 CYP3A43,CYP3A43,CYP3A43 EXON Missense_E70K,Missense_E70K,Missense_E70K exm638844 7 99445123 [A/G] NM_057096,NM_022820,NM_057095 CYP3A43,CYP3A43,CYP3A43 EXON Missense_M111V,Missense_M111V,Missense_M111V exm638850 7 99445181 [A/G] NM_057096,NM_022820,NM_057095 CYP3A43,CYP3A43,CYP3A43 EXON Missense_R130Q,Missense_R130Q,Missense_R130Q exm638851 7 99445188 [T/G] NM_057096,NM_022820,NM_057095 CYP3A43,CYP3A43,CYP3A43 EXON Missense_L132F,Missense_L132F,Missense_L132F exm638855 7 99445791 [T/G] NM_057096,NM_022820,NM_057095 CYP3A43,CYP3A43,CYP3A43 EXON Missense_M145I,Missense_M145I,Missense_M145I exm638871 7 99453258 [A/G] NM_057096,NM_022820,NM_057095 CYP3A43,CYP3A43,CYP3A43 EXON Missense_G239S,Missense_G239S,Missense_G239S exm638880 7 99454482 [A/G] NM_057096,NM_022820,NM_057095 CYP3A43,CYP3A43,CYP3A43 EXON Missense_M275I,Missense_M275I,Missense_M275I exm638892 7 99457605 [C/G] NM_057096,NM_022820,NM_057095 CYP3A43,CYP3A43,CYP3A43 EXON Missense_P340A,Missense_P340A,Missense_P340A exm638896 7 99459330 [T/C] NM_057096,NM_022820,NM_057095 CYP3A43,CYP3A43,CYP3A43 EXON Missense_T374M,Missense_T374M,Missense_T374M exm638898 7 99459342 [A/G] NM_057096,NM_022820,NM_057095 CYP3A43,CYP3A43,CYP3A43 EXON Missense_K378R,Missense_K378R,Missense_K378R exm638903 7 99461160 [T/G] NM_057096,NM_022820,NM_057095 CYP3A43,CYP3A43,CYP3A43 EXON Silent,Missense_R419S,Missense_R418S exm638904 7 99461219 [A/G] NM_057096,NM_022820,NM_057095 CYP3A43,CYP3A43,CYP3A43 EXON Silent,Missense_G439E,Missense_G438E exm638906 7 99461225 [A/G] NM_057096,NM_022820,NM_057095 CYP3A43,CYP3A43,CYP3A43 EXON Silent,Missense_R441Q,Missense_R440Q exm638911 7 99463563 [A/G] NM_057096,NM_022820,NM_057095 CYP3A43,CYP3A43,CYP3A43 EXON Silent,Missense_Q485R,Missense_Q484R exm638919 7 99473714 [A/G] NM_001005276 OR2AE1 EXON Nonsense_R315X exm638923 7 99473801 [A/G] NM_001005276 OR2AE1 EXON Missense_S286P exm638926 7 99473815 [A/G] NM_001005276 OR2AE1 EXON Missense_T281M exm638929 7 99473858 [C/G] NM_001005276 OR2AE1 EXON Missense_L267V exm638934 7 99473924 [T/C] NM_001005276 OR2AE1 EXON Missense_T245A exm638940 7 99474007 [T/C] NM_001005276 OR2AE1 EXON Missense_Y217C exm638941 7 99474016 [A/G] NM_001005276 OR2AE1 EXON Missense_S214F exm638944 7 99474143 [A/G] NM_001005276 OR2AE1 EXON Missense_R172W exm638946 7 99474158 [T/G] NM_001005276 OR2AE1 EXON Missense_P167T exm638949 7 99474175 [A/G] NM_001005276 OR2AE1 EXON Missense_A161V exm638953 7 99474292 [T/C] NM_001005276 OR2AE1 EXON Missense_R122H exm2158681 7 99474323 [A/G] NM_001005276 OR2AE1 EXON Missense_C112R exm638957 7 99474427 [A/G] NM_001005276 OR2AE1 EXON Missense_I77T exm638958 7 99474428 [T/C] NM_001005276 OR2AE1 EXON Missense_I77V exm638963 7 99474481 [A/G] NM_001005276 OR2AE1 EXON Missense_M59T exm2158683 7 99474544 [A/G] NM_001005276 OR2AE1 EXON Missense_A38V exm-rs17277546 7 99489571 [A/G] NM_033017,NM_033091 TRIM4,TRIM4 EXON Silent,Silent exm638972 7 99489857 [A/G] NM_033017,NM_033091 TRIM4,TRIM4 EXON Missense_R478C,Missense_R452C exm638973 7 99489868 [G/C] NM_033017,NM_033091 TRIM4,TRIM4 EXON Missense_S474C,Missense_S448C exm638980 7 99490052 [T/C] NM_033017,NM_033091 TRIM4,TRIM4 EXON Missense_D413N,Missense_D387N exm638989 7 99490190 [A/G] NM_033017,NM_033091 TRIM4,TRIM4 EXON Missense_P367S,Missense_P341S exm638991 7 99490258 [A/G] NM_033017,NM_033091 TRIM4,TRIM4 EXON Missense_A344V,Missense_A318V exm639003 7 99500864 [T/G] NM_033017,NM_033091 TRIM4,TRIM4 EXON Missense_K299T,Missense_K273T exm639007 7 99500926 [G/C] NM_033017,NM_033091 TRIM4,TRIM4 EXON Missense_Q278H,Missense_Q252H exm639009 7 99501208 [T/A] NM_033017,NM_033091 TRIM4,TRIM4 EXON Missense_V271E,Missense_V245E exm2258545 7 99506304 [A/G] NM_033017,NM_033091 TRIM4,TRIM4 EXON Synonymous_N233N,Synonymous_N207N exm639021 7 99506378 [A/G] NM_033017,NM_033091 TRIM4,TRIM4 EXON Missense_F209L,Missense_F183L exm639022 7 99506401 [A/G] NM_033017,NM_033091 TRIM4,TRIM4 EXON Missense_T201M,Missense_T175M exm639024 7 99506417 [A/G] NM_033017,NM_033091 TRIM4,TRIM4 EXON Nonsense_R196X,Nonsense_R170X exm639027 7 99507230 [A/C] NM_033017,NM_033091 TRIM4,TRIM4 EXON Missense_M175I,Missense_M149I exm639041 7 99516747 [A/G] NM_033017,NM_033091 TRIM4,TRIM4 EXON Missense_P93L,Missense_P93L exm639053 7 99521208 [A/G] NM_181538 GJC3 EXON Missense_A267V exm639054 7 99526464 [T/G] NM_181538 GJC3 EXON Synonymous_A260A exm2158705 7 99526646 [A/C] NM_181538 GJC3 EXON Missense_G200C exm639064 7 99526647 [T/G] NM_181538 GJC3 EXON Missense_S199R exm639068 7 99526754 [A/G] NM_181538 GJC3 EXON Missense_P164S exm639076 7 99526889 [A/G] NM_181538 GJC3 EXON Missense_R119W exm639084 7 99527179 [T/C] NM_181538 GJC3 EXON Missense_R22H exm639090 7 99527231 [A/C] NM_181538 GJC3 EXON Missense_F5V exm2158709 7 99527243 [T/C] NM_181538 GJC3 EXON Missense_M1V exm2270772 7 99552892 [T/C] exm639104 7 99565831 [A/G] NM_001185 AZGP1 EXON Missense_P187L exm639107 7 99565928 [A/C] NM_001185 AZGP1 EXON Missense_V155F exm639108 7 99565930 [T/C] NM_001185 AZGP1 EXON Nonsense_W154X exm639118 7 99569370 [A/G] NM_001185 AZGP1 EXON Synonymous_N112N exm639138 7 99569627 [A/G] NM_001185 AZGP1 EXON Missense_R27C exm639159 7 99621810 [A/G] NM_003439 ZKSCAN1 EXON Missense_A154T exm639167 7 99621912 [T/C] NM_003439 ZKSCAN1 EXON Missense_R188C exm639168 7 99621928 [A/G] NM_003439 ZKSCAN1 EXON Missense_R193Q exm639170 7 99627484 [G/C] NM_003439 ZKSCAN1 EXON Missense_A194G exm639171 7 99627504 [C/G] NM_003439 ZKSCAN1 EXON Missense_P201A exm639172 7 99627508 [T/C] NM_003439 ZKSCAN1 EXON Missense_A202V exm639181 7 99630948 [A/G] NM_003439 ZKSCAN1 EXON Missense_N274D exm639197 7 99631342 [A/G] NM_003439 ZKSCAN1 EXON Missense_Y405C exm639203 7 99631615 [A/G] NM_003439 ZKSCAN1 EXON Missense_K496R exm639213 7 99654642 [A/G] NM_145914 ZSCAN21 EXON Missense_V5I exm639218 7 99654708 [A/G] NM_145914 ZSCAN21 EXON Missense_K27E exm639233 7 99655373 [G/C] NM_145914 ZSCAN21 EXON Nonsense_S151X exm639237 7 99655447 [A/G] NM_145914 ZSCAN21 EXON Missense_G176R exm639249 7 99661614 [A/G] NM_145914 ZSCAN21 EXON Missense_V266I exm639254 7 99661692 [T/C] NM_145914,NM_017715 ZSCAN21,ZNF3 EXON Missense_L292F,Silent exm639260 7 99661810 [A/G] NM_145914,NM_017715 ZSCAN21,ZNF3 EXON Missense_R331Q,Silent exm639266 7 99661948 [A/G] NM_145914,NM_017715 ZSCAN21,ZNF3 EXON Missense_R377H,Silent exm639277 7 99662185 [A/G] NM_145914,NM_017715 ZSCAN21,ZNF3 EXON Missense_K456R,Silent exm-IND7-99500447 7 99662512 [D/I] NM_145914,NM_017715 ZSCAN21,ZNF3 EXON exm639294 7 99668803 [T/C] NM_017715,NM_032924 ZNF3,ZNF3 EXON Silent,Missense_R435K exm639295 7 99668842 [T/C] NM_017715,NM_032924 ZNF3,ZNF3 EXON Silent,Missense_K422R exm639324 7 99669673 [T/C] NM_017715,NM_032924 ZNF3,ZNF3 EXON Silent,Missense_G145E exm639325 7 99669691 [A/G] NM_017715,NM_032924 ZNF3,ZNF3 EXON Silent,Missense_P139L exm639326 7 99669712 [T/C] NM_017715,NM_032924 ZNF3,ZNF3 EXON Silent,Missense_R132Q exm639333 7 99669802 [A/G] NM_017715,NM_032924 ZNF3,ZNF3 EXON Silent,Missense_I102T exm639338 7 99669832 [T/C] NM_017715,NM_032924 ZNF3,ZNF3 EXON Silent,Missense_R92H exm639339 7 99672776 [T/C] NM_017715,NM_032924 ZNF3,ZNF3 EXON Missense_G85R,Missense_G85R exm639380 7 99688952 [A/G] NM_006833 COPS6 EXON Synonymous_A247A exm639409 7 99690722 [T/C] NM_182776,NM_005916 MCM7,MCM7 EXON Missense_V489I,Missense_V665I exm639439 7 99691871 [G/C] NM_182776,NM_005916 MCM7,MCM7 EXON Missense_E415D,Missense_E591D exm639454 7 99693397 [T/C] NM_182776,NM_005916 MCM7,MCM7 EXON Missense_R356Q,Missense_R532Q exm639460 7 99693428 [G/C] NM_182776,NM_005916 MCM7,MCM7 EXON Missense_Q346E,Missense_Q522E exm639467 7 99693575 [T/C] NM_182776,NM_005916 MCM7,MCM7 EXON Missense_G297S,Missense_G473S exm639476 7 99693725 [T/C] NM_182776,NM_005916 MCM7,MCM7 EXON Missense_V247M,Missense_V423M exm639490 7 99695309 [T/C] NM_182776,NM_005916 MCM7,MCM7 EXON Missense_D173N,Missense_D349N exm639504 7 99695787 [T/C] NM_182776,NM_005916 MCM7,MCM7 EXON Missense_T107A,Missense_T283A exm639513 7 99695873 [A/G] NM_182776,NM_005916 MCM7,MCM7 EXON Missense_T78M,Missense_T254M exm639520 7 99696308 [T/C] NM_182776,NM_005916 MCM7,MCM7 EXON Missense_M29V,Missense_M205V exm2158833 7 99696316 [A/G] NM_182776,NM_005916 MCM7,MCM7 EXON Missense_P26L,Missense_P202L exm639521 7 99696325 [A/G] NM_182776,NM_005916 MCM7,MCM7 EXON Missense_T23I,Missense_T199I exm639529 7 99696771 [A/G] NM_182776,NM_005916 MCM7,MCM7 EXON Silent,Missense_R153W exm639530 7 99696797 [T/C] NM_182776,NM_005916 MCM7,MCM7 EXON Silent,Missense_N144S exm639534 7 99696918 [C/G] NM_182776,NM_005916 MCM7,MCM7 EXON Silent,Missense_E129Q exm639538 7 99696962 [T/C] NM_182776,NM_005916 MCM7,MCM7 EXON Silent,Missense_R114Q exm639539 7 99696978 [T/C] NM_182776,NM_005916 MCM7,MCM7 EXON Silent,Missense_M109V exm639541 7 99696984 [C/G] NM_182776,NM_005916 MCM7,MCM7 EXON Silent,Missense_L107V exm639547 7 99697220 [T/C] NM_182776,NM_005916 MCM7,MCM7 EXON Silent,Missense_E90K exm639551 7 99697319 [T/C] NM_182776,NM_005916 MCM7,MCM7 EXON Silent,Missense_E57K exm639553 7 99697373 [A/G] NM_182776,NM_005916 MCM7,MCM7 EXON Silent,Missense_R39W exm639573 7 99699581 [T/C] NM_004722 AP4M1 EXON Missense_P46L exm639584 7 99700527 [A/G] NM_004722 AP4M1 EXON Missense_E99K exm639586 7 99700565 [A/C] NM_004722 AP4M1 EXON Missense_E111D exm639589 7 99701060 [T/C] NM_004722 AP4M1 EXON Missense_T127M exm639592 7 99701087 [T/C] NM_004722 AP4M1 EXON Missense_T136M exm639596 7 99701268 [T/C] NM_004722 AP4M1 EXON Missense_P166S exm639599 7 99701286 [T/C] NM_004722 AP4M1 EXON Missense_R172C exm639605 7 99702501 [T/C] NM_004722 AP4M1 EXON Missense_S204F exm639617 7 99702875 [G/C] NM_004722 AP4M1 EXON Missense_G247A exm639622 7 99702947 [A/G] NM_004722 AP4M1 EXON Missense_R271H exm639632 7 99703582 [A/G] NM_004722 AP4M1 EXON Synonymous_R310R exm639642 7 99703901 [T/C] NM_004722 AP4M1 EXON Nonsense_R338X exm2258547 7 99704050 [A/G] NM_004722 AP4M1 EXON Synonymous_P350P exm639647 7 99704060 [C/G] NM_004722 AP4M1 EXON Missense_A354P exm639648 7 99704079 [A/C] NM_004722 AP4M1 EXON Missense_A360D exm639649 7 99704100 [A/G] NM_004722 AP4M1 EXON Missense_R367Q exm639672 7 99704892 [T/C] NM_139315,NR_033792,NM_001190415,NM_005641 TAF6,TAF6,TAF6,TAF6 EXON Missense_G671S,Silent,Missense_G708S,Missense_G671S exm639678 7 99705011 [A/G] NM_139315,NR_033792,NM_001190415,NM_005641 TAF6,TAF6,TAF6,TAF6 EXON Missense_P631L,Silent,Missense_P668L,Missense_P631L exm2246216 7 99705566 [T/C] NM_139315,NR_033792,NM_001190415,NM_005641 TAF6,TAF6,TAF6,TAF6 EXON Missense_A547T,Silent,Missense_A584T,Missense_A547T exm639699 7 99705605 [A/G] NM_139315,NR_033792,NM_001190415,NM_005641 TAF6,TAF6,TAF6,TAF6 EXON Missense_P534S,Silent,Missense_P571S,Missense_P534S exm639709 7 99706052 [A/C] NM_139315,NR_033792,NM_001190415,NM_005641 TAF6,TAF6,TAF6,TAF6 EXON Missense_A466S,Silent,Missense_A503S,Missense_A466S exm639716 7 99707581 [G/C] NM_139315,NR_033792,NM_001190415,NM_005641 TAF6,TAF6,TAF6,TAF6 EXON Missense_S425T,Silent,Missense_S462T,Missense_S425T exm639734 7 99709553 [A/C] NM_139315,NR_033792,NM_001190415,NM_005641 TAF6,TAF6,TAF6,TAF6 EXON Missense_S264A,Silent,Missense_S301A,Missense_S264A exm639786 7 99711726 [G/C] NM_139315,NR_033792,NM_001190415,NM_005641 TAF6,TAF6,TAF6,TAF6 EXON Missense_C36S,Silent,Missense_C73S,Missense_C36S exm639788 7 99711757 [A/T] NM_139315,NR_033792,NM_001190415,NM_005641 TAF6,TAF6,TAF6,TAF6 EXON Missense_M26L,Silent,Missense_M63L,Missense_M26L exm639794 7 99717374 [T/C] NM_001190415,NM_152755 TAF6,CNPY4 EXON Silent,Missense_P3S exm639801 7 99719902 [C/G] NM_152755 CNPY4 EXON Missense_E47Q exm639805 7 99719959 [A/C] NM_152755 CNPY4 EXON Missense_Q66K exm639807 7 99720002 [T/G] NM_152755 CNPY4 EXON Missense_S80I exm639811 7 99720405 [A/C] NM_152755 CNPY4 Silent exm639817 7 99722173 [A/G] NM_152755 CNPY4 EXON Missense_G168R exm639829 7 99722498 [A/G] NM_152755 CNPY4 EXON Missense_R245Q exm639846 7 99725466 [T/G] NM_203397 MBLAC1 EXON Missense_G150C exm639854 7 99725631 [A/G] NM_203397 MBLAC1 EXON Missense_A205T exm639870 7 99747131 [A/C] NM_001008395 LAMTOR4 EXON Missense_L5M exm639887 7 99751576 [A/C] NM_001008395 LAMTOR4 EXON Missense_I97L exm639894 7 99752642 [T/C] NM_018275 C7orf43 EXON Missense_V579I exm639896 7 99752645 [A/G] NM_018275 C7orf43 EXON Missense_P578S exm639919 7 99753395 [T/C] NM_018275 C7orf43 EXON Missense_V432I exm2266455 7 99753870 [A/G] NM_018275 C7orf43 Silent exm639951 7 99755280 [T/C] NM_018275 C7orf43 EXON Missense_E205K exm639952 7 99755289 [A/G] NM_018275 C7orf43 EXON Missense_F202L exm639954 7 99755343 [T/C] NM_018275 C7orf43 EXON Missense_V184I exm639976 7 99757553 [A/G] NM_024637 GAL3ST4 EXON Missense_X487Q exm639981 7 99757598 [A/G] NM_024637 GAL3ST4 EXON Missense_P472S exm639982 7 99757612 [A/G] NM_024637 GAL3ST4 EXON Missense_A467V exm639987 7 99757654 [T/C] NM_024637 GAL3ST4 EXON Missense_R453H exm639988 7 99757655 [A/G] NM_024637 GAL3ST4 EXON Missense_R453C exm639993 7 99757738 [T/C] NM_024637 GAL3ST4 EXON Missense_R425H exm640003 7 99757852 [T/C] NM_024637 GAL3ST4 EXON Missense_G387D exm640007 7 99757939 [T/C] NM_024637 GAL3ST4 EXON Missense_R358Q exm2246222 7 99757954 [T/C] NM_024637 GAL3ST4 EXON Missense_R353Q exm640008 7 99757955 [A/G] NM_024637 GAL3ST4 EXON Missense_R353W exm640010 7 99757963 [A/G] NM_024637 GAL3ST4 EXON Missense_A350V exm640012 7 99757982 [T/C] NM_024637 GAL3ST4 EXON Missense_S344G exm640016 7 99758090 [T/C] NM_024637 GAL3ST4 EXON Missense_D308N exm640021 7 99758158 [T/G] NM_024637 GAL3ST4 EXON Missense_S285Y exm640023 7 99758203 [T/C] NM_024637 GAL3ST4 EXON Missense_R270H exm640045 7 99764196 [A/G] NM_024637 GAL3ST4 EXON Missense_R120C exm640047 7 99764240 [A/G] NM_024637 GAL3ST4 EXON Missense_F105S exm640048 7 99764249 [T/C] NM_024637 GAL3ST4 EXON Missense_R102H exm640052 7 99764274 [T/C] NM_024637 GAL3ST4 EXON Missense_G94R exm2159009 7 99764337 [T/C] NM_024637 GAL3ST4 EXON Missense_K73E exm640056 7 99764358 [A/G] NM_024637 GAL3ST4 EXON Missense_R66W exm640070 7 99767894 [A/T] NM_152742 GPC2 EXON Missense_I567F exm2159022 7 99768097 [A/G] NM_152742 GPC2 EXON Missense_A499V exm640080 7 99768106 [T/C] NM_152742 GPC2 EXON Missense_D496G exm640086 7 99768967 [T/C] NM_152742 GPC2 EXON Missense_R468Q exm640104 7 99771541 [A/G] NM_152742 GPC2 EXON Missense_M270T exm2159033 7 99773238 [A/G] NM_152742 GPC2 EXON Missense_S202F exm640126 7 99773443 [A/G] NM_152742 GPC2 EXON Missense_Y134H exm640127 7 99773448 [T/C] NM_152742 GPC2 EXON Missense_R132H exm640133 7 99773962 [C/G] NM_152742 GPC2 EXON Missense_E65Q exm640134 7 99773974 [T/C] NM_152742 GPC2 EXON Missense_V61I exm640137 7 99774740 [A/C] NM_152742 GPC2 EXON Missense_V28G exm640139 7 99774815 [C/G] NM_152742 GPC2 EXON Missense_A3G exm640142 7 99778190 [T/C] NM_012447 STAG3 EXON Missense_P4L exm2159042 7 99778269 [A/C] NM_012447 STAG3 EXON Missense_D30E exm640174 7 99786108 [T/C] NM_012447 STAG3 EXON Missense_S156P exm640179 7 99786537 [A/G] NM_012447 STAG3 EXON Missense_S205G exm640184 7 99787106 [T/C] NM_012447 STAG3 EXON Nonsense_Q252X exm640204 7 99795485 [A/C] NM_012447 STAG3 EXON Missense_T384P exm640206 7 99795729 [T/G] NM_012447 STAG3 EXON Missense_V395G exm640221 7 99796885 [T/C] NM_012447 STAG3 EXON Missense_L490F exm640246 7 99798519 [T/C] NM_012447,NR_028039,NR_028040,NM_178831 STAG3,GATS,GATS,GATS EXON Missense_A663V,Silent,Silent,Silent exm640247 7 99798530 [T/C] NM_012447,NR_028039,NR_028040,NM_178831 STAG3,GATS,GATS,GATS EXON Missense_R667C,Silent,Silent,Silent exm2159078 7 99799921 [T/C] NM_012447,NR_028039,NR_028040,NM_178831 STAG3,GATS,GATS,GATS EXON Missense_L841F,Silent,Silent,Silent exm640284 7 99800128 [A/G] NM_012447,NR_028039,NR_028040,NM_178831 STAG3,GATS,GATS,GATS EXON Missense_R872H,Silent,Silent,Silent exm640290 7 99801677 [A/G] NM_012447,NR_028039,NR_028040,NM_178831 STAG3,GATS,GATS,GATS EXON Missense_T912A,Silent,Silent,Silent exm640301 7 99802346 [T/A] NM_012447,NR_028039,NR_028040,NM_178831 STAG3,GATS,GATS,GATS EXON Missense_S967C,Silent,Silent,Silent exm640306 7 99802885 [T/C] NM_012447,NR_028039,NR_028040,NM_178831 STAG3,GATS,GATS,GATS EXON Missense_S1039F,Silent,Silent,Silent exm640307 7 99802918 [T/C] NM_012447,NR_028039,NR_028040,NM_178831 STAG3,GATS,GATS,GATS EXON Missense_T1050I,Silent,Silent,Silent exm640314 7 99808689 [T/G] NM_012447,NR_028039,NR_028040,NM_178831,NR_028038 STAG3,GATS,GATS,GATS,GATS EXON Missense_Q1098H,Silent,Silent,Silent,Silent exm640315 7 99808703 [T/C] NM_012447,NR_028039,NR_028040,NM_178831,NR_028038 STAG3,GATS,GATS,GATS,GATS EXON Missense_P1103L,Silent,Silent,Silent,Silent exm640319 7 99808790 [A/G] NM_012447,NR_028039,NR_028040,NM_178831,NR_028038 STAG3,GATS,GATS,GATS,GATS EXON Missense_E1132G,Silent,Silent,Silent,Silent exm640328 7 99809113 [T/C] NM_012447,NR_028039,NR_028040,NM_178831,NR_028038 STAG3,GATS,GATS,GATS,GATS EXON Nonsense_Q1156X,Silent,Silent,Silent,Silent exm640335 7 99809499 [A/G] NM_012447,NR_028039,NR_028040,NM_178831,NR_028038 STAG3,GATS,GATS,GATS,GATS EXON Missense_M1199I,Silent,Silent,Silent,Silent exm640339 7 99811388 [T/C] NM_012447,NR_028039,NR_028040,NM_178831,NR_028038 STAG3,GATS,GATS,GATS,GATS EXON Missense_R1210C,Silent,Silent,Silent,Silent exm640355 7 99817603 [C/G] NR_028039,NR_028040,NM_178831,NR_028038,NM_024070 GATS,GATS,GATS,GATS,PVRIG EXON Silent,Silent,Silent,Silent,Missense_R24G exm640366 7 99817849 [C/G] NR_028039,NR_028040,NM_178831,NR_028038,NM_024070 GATS,GATS,GATS,GATS,PVRIG EXON Silent,Silent,Silent,Silent,Missense_W77C exm640367 7 99817859 [A/G] NR_028039,NR_028040,NM_178831,NR_028038,NM_024070 GATS,GATS,GATS,GATS,PVRIG EXON Silent,Silent,Silent,Silent,Missense_N81D exm640381 7 99818185 [T/C] NR_028039,NR_028040,NM_178831,NR_028038,NM_024070 GATS,GATS,GATS,GATS,PVRIG EXON Silent,Silent,Silent,Silent,Missense_P162L exm640387 7 99818284 [A/G] NR_028039,NR_028040,NM_178831,NR_028038,NM_024070 GATS,GATS,GATS,GATS,PVRIG EXON Silent,Silent,Silent,Silent,Missense_R195Q exm640388 7 99818295 [T/C] NR_028039,NR_028040,NM_178831,NR_028038,NM_024070 GATS,GATS,GATS,GATS,PVRIG EXON Silent,Silent,Silent,Silent,Missense_R199C exm640410 7 99818851 [T/G] NR_028039,NR_028040,NM_178831,NR_028038,NM_024070 GATS,GATS,GATS,GATS,PVRIG EXON Silent,Silent,Silent,Silent,Nonsense_E320X exm2246229 7 99905325 [T/C] NM_001004351 SPDYE3 EXON Silent exm640496 7 99956595 [A/G] NR_036570,NR_036569,NM_178238 PILRB,PILRB,PILRB EXON Silent,Silent,Missense_R116Q exm640497 7 99956625 [A/G] NR_036570,NR_036569,NM_178238 PILRB,PILRB,PILRB EXON Silent,Silent,Missense_R126Q exm2159176 7 99956632 [C/G] NR_036570,NR_036569,NM_178238 PILRB,PILRB,PILRB EXON Silent,Silent,Missense_E128D exm640506 7 99957008 [T/C] NR_036570,NR_036569,NM_178238 PILRB,PILRB,PILRB EXON Silent,Silent,Missense_A168V exm640511 7 99957104 [A/G] NR_036570,NR_036569,NM_178238 PILRB,PILRB,PILRB EXON Silent,Silent,Missense_K200R exm640512 7 99957121 [G/C] NR_036570,NR_036569,NM_178238 PILRB,PILRB,PILRB EXON Silent,Silent,Missense_L206V exm640530 7 99971770 [T/G] NM_178272,NM_178273,NM_013439 PILRA,PILRA,PILRA EXON Nonsense_Y56X,Nonsense_Y56X,Nonsense_Y56X exm640551 7 99987606 [A/G] NM_178272,NM_178273,NM_013439 PILRA,PILRA,PILRA EXON Silent,Silent,Missense_K184E exm640556 7 99996919 [T/C] NM_178272,NM_178273,NM_013439 PILRA,PILRA,PILRA EXON Missense_P165L,Missense_P154S,Missense_P238L exm640563 7 99997218 [T/C] NM_178272,NM_178273,NM_013439 PILRA,PILRA,PILRA EXON Missense_P185S,Synonymous_I173I,Missense_P258S exm640569 7 99997454 [T/C] NM_178272,NM_178273,NM_013439 PILRA,PILRA,PILRA EXON Missense_S206L,Silent,Missense_S279L exm640572 7 99997501 [A/G] NM_178272,NM_178273,NM_013439 PILRA,PILRA,PILRA EXON Missense_E222K,Silent,Missense_E295K exm640579 7 99998720 [T/C] NM_001258008,NM_017984 ZCWPW1,ZCWPW1 EXON Silent,Missense_G622R exm640588 7 99998878 [A/G] NM_001258008,NM_017984 ZCWPW1,ZCWPW1 EXON Nonsense_Q499X,Missense_P569L exm640589 7 99998894 [A/C] NM_001258008,NM_017984 ZCWPW1,ZCWPW1 EXON Missense_K493N,Nonsense_E564X exm640593 7 99999551 [T/C] NM_001258008,NM_017984 ZCWPW1,ZCWPW1 EXON Silent,Missense_R529G exm640594 7 99999592 [A/G] NM_001258008,NM_017984 ZCWPW1,ZCWPW1 EXON Silent,Missense_L515P exm640605 7 100004319 [A/T] NM_001258008,NM_017984 ZCWPW1,ZCWPW1 EXON Missense_M391L,Missense_M390L exm640608 7 100004394 [T/C] NM_001258008,NM_017984 ZCWPW1,ZCWPW1 EXON Missense_E366K,Missense_E365K exm640612 7 100004852 [A/G] NM_001258008,NM_017984 ZCWPW1,ZCWPW1 EXON Missense_P356L,Missense_P355L exm640613 7 100004867 [T/C] NM_001258008,NM_017984 ZCWPW1,ZCWPW1 EXON Missense_H351R,Missense_H350R exm640620 7 100007051 [T/C] NM_001258008,NM_017984 ZCWPW1,ZCWPW1 EXON Missense_D291N,Missense_D290N exm640623 7 100007167 [A/C] NM_001258008,NM_017984 ZCWPW1,ZCWPW1 EXON Missense_G252V,Missense_G251V exm640624 7 100013609 [A/C] NM_001258008,NM_017984 ZCWPW1,ZCWPW1 EXON Missense_I248R,Missense_I247R exm640638 7 100014072 [A/C] NM_001258008,NM_017984 ZCWPW1,ZCWPW1 EXON Missense_V163L,Missense_V163L exm640640 7 100014711 [T/C] NM_001258008,NM_017984 ZCWPW1,ZCWPW1 EXON Missense_T153A,Missense_T153A exm640645 7 100016781 [T/C] NM_001258008,NM_017984 ZCWPW1,ZCWPW1 EXON Missense_E105G,Missense_E105G exm640654 7 100017410 [A/G] NM_001258008,NM_017984 ZCWPW1,ZCWPW1 EXON Missense_P42L,Missense_P42L exm640659 7 100017474 [A/G] NM_001258008,NM_017984 ZCWPW1,ZCWPW1 EXON Missense_P21S,Missense_P21S exm640695 7 100028642 [T/C] NM_001194991,NM_001194992,NM_001194990,NM_019606 MEPCE,MEPCE,MEPCE,MEPCE EXON Silent,Silent,Silent,Missense_S334F exm640713 7 100029047 [T/G] NM_001194991,NM_001194992,NM_001194990,NM_019606 MEPCE,MEPCE,MEPCE,MEPCE EXON Silent,Silent,Silent,Missense_R469L exm640727 7 100030684 [A/G] NM_001194991,NM_001194992,NM_001194990,NM_019606 MEPCE,MEPCE,MEPCE,MEPCE EXON Missense_R136Q,Missense_R136Q,Missense_R136Q,Missense_R605Q exm640758 7 100033270 [C/G] NM_145030 PPP1R35 EXON Missense_R191P exm640759 7 100033291 [A/G] NM_145030 PPP1R35 EXON Missense_A184V exm640764 7 100033389 [T/C] NM_145030 PPP1R35 EXON Synonymous_G151G exm640766 7 100033476 [A/G] NM_145030 PPP1R35 EXON Missense_S149F exm640778 7 100033955 [T/C] NM_145030 PPP1R35 EXON Missense_G15R exm640784 7 100054475 [T/C] NM_001004323 C7orf61 EXON Missense_R174H exm640787 7 100054503 [T/C] NM_001004323 C7orf61 EXON Missense_V165I exm640791 7 100054568 [A/G] NM_001004323 C7orf61 EXON Missense_T143M exm2244574 7 100061107 [A/G] NM_001004323 C7orf61 EXON Missense_T89I exm640799 7 100061612 [A/G] NM_001004323 C7orf61 EXON Missense_R13W exm640823 7 100071904 [T/C] NM_030935 TSC22D4 EXON Missense_D308N exm2275955 7 100072044 [T/C] NM_030935 TSC22D4 EXON Missense_R261H exm640829 7 100074935 [A/G] NM_030935 TSC22D4 EXON Missense_R243W exm2274253 7 100075112 [A/G] NM_030935 TSC22D4 EXON Missense_P184S exm640846 7 100075358 [A/G] NM_030935 TSC22D4 EXON Missense_P102S exm2133552 7 100075369 [T/C] NM_030935 TSC22D4 EXON Missense_R98Q exm640854 7 100075619 [T/C] NM_030935 TSC22D4 EXON Missense_V15I exm640858 7 100084515 [A/G] NM_173564 NYAP1 EXON Missense_R47Q exm640869 7 100085813 [T/C] NM_173564 NYAP1 EXON Missense_R157W exm640872 7 100085880 [T/C] NM_173564 NYAP1 EXON Missense_S179F exm640875 7 100085889 [T/C] NM_173564 NYAP1 EXON Missense_P182L exm640909 7 100086398 [A/G] NM_173564 NYAP1 EXON Missense_D352N exm640944 7 100087005 [G/C] NM_173564 NYAP1 EXON Missense_T554R exm640947 7 100087098 [T/C] NM_173564 NYAP1 EXON Missense_M585T exm640961 7 100088158 [A/G] NM_173564 NYAP1 EXON Missense_R655Q exm640974 7 100091317 [T/C] NM_173564 NYAP1 EXON Missense_R773C exm640984 7 100146467 [T/C] NM_006076 AGFG2 EXON Missense_R82C exm640997 7 100151719 [A/G] NM_006076 AGFG2 EXON Missense_V197I exm640998 7 100151734 [A/G] NM_006076 AGFG2 EXON Missense_A202T exm641000 7 100151753 [A/G] NM_006076 AGFG2 EXON Missense_R208Q exm641012 7 100159897 [T/C] NM_006076 AGFG2 EXON Missense_T298I exm641014 7 100159926 [A/G] NM_006076 AGFG2 EXON Missense_A308T exm641016 7 100159986 [C/G] NM_006076 AGFG2 EXON Missense_A328P exm641022 7 100160264 [T/C] NM_006076 AGFG2 EXON Missense_M349T exm641063 7 100172783 [T/C] NM_002319 LRCH4 EXON Missense_V667M exm641065 7 100172813 [A/G] NM_002319 LRCH4 EXON Missense_S657P exm641071 7 100172885 [A/G] NM_002319 LRCH4 EXON Missense_R633W exm641072 7 100172914 [A/G] NM_002319 LRCH4 EXON Missense_S623L exm641087 7 100173863 [C/G] NM_002319 LRCH4 EXON Missense_Q546E exm641088 7 100173866 [A/G] NM_002319 LRCH4 EXON Missense_R545C exm641119 7 100175335 [T/G] NM_002319 LRCH4 EXON Missense_F356L exm641120 7 100175342 [A/G] NM_002319 LRCH4 EXON Missense_I354T exm641125 7 100175472 [A/G] NM_002319 LRCH4 EXON Missense_P338S exm641127 7 100175486 [T/C] NM_002319 LRCH4 EXON Missense_R333Q exm641135 7 100175853 [A/G] NM_002319 LRCH4 EXON Missense_R293W exm641138 7 100175877 [G/C] NM_002319 LRCH4 EXON Missense_A285P exm2244579 7 100176317 [A/C] NM_002319 LRCH4 EXON Missense_V231F exm641149 7 100176362 [T/C] NM_002319 LRCH4 EXON Missense_V216I exm641154 7 100179435 [T/C] NM_002319 LRCH4 EXON Missense_N188S exm641174 7 100183609 [T/C] NM_002319 LRCH4 EXON Missense_E39K exm641182 7 100184265 [T/A] NM_033506 FBXO24 EXON Missense_V6D exm641183 7 100184285 [T/C] NM_033506 FBXO24 EXON Missense_R13W exm641185 7 100187325 [A/G] NM_033506,NR_038910,NM_012172,NM_001163499 FBXO24,PCOLCE-AS1,FBXO24,FBXO24 EXON Silent,Silent,Missense_S21N,Silent exm641187 7 100187349 [T/A] NM_033506,NR_038910,NM_012172,NM_001163499 FBXO24,PCOLCE-AS1,FBXO24,FBXO24 EXON Silent,Silent,Missense_V29D,Silent exm641196 7 100187851 [A/C] NM_033506,NR_038910,NM_012172,NM_001163499 FBXO24,PCOLCE-AS1,FBXO24,FBXO24 EXON Missense_T65P,Silent,Missense_T103P,Missense_T53P exm641204 7 100189325 [T/C] NM_033506,NR_038910,NM_012172,NM_001163499 FBXO24,PCOLCE-AS1,FBXO24,FBXO24 EXON Missense_R120C,Silent,Missense_R158C,Missense_R108C exm641216 7 100189443 [A/G] NM_033506,NR_038910,NM_012172,NM_001163499 FBXO24,PCOLCE-AS1,FBXO24,FBXO24 EXON Missense_K159R,Silent,Missense_K197R,Missense_K147R exm641218 7 100189472 [A/G] NM_033506,NR_038910,NM_012172,NM_001163499 FBXO24,PCOLCE-AS1,FBXO24,FBXO24 EXON Missense_M169V,Silent,Missense_M207V,Missense_M157V exm641222 7 100190466 [T/C] NM_033506,NR_038910,NM_012172,NM_001163499 FBXO24,PCOLCE-AS1,FBXO24,FBXO24 EXON Missense_R207W,Silent,Missense_R245W,Missense_R195W exm641234 7 100192051 [A/C] NM_033506,NR_038910,NM_012172,NM_001163499 FBXO24,PCOLCE-AS1,FBXO24,FBXO24 EXON Missense_D280A,Silent,Missense_D318A,Missense_D268A exm641238 7 100192117 [A/G] NM_033506,NR_038910,NM_012172,NM_001163499 FBXO24,PCOLCE-AS1,FBXO24,FBXO24 EXON Missense_R302H,Silent,Missense_R340H,Missense_R290H exm641249 7 100193256 [T/C] NM_033506,NR_038910,NM_012172,NM_001163499 FBXO24,PCOLCE-AS1,FBXO24,FBXO24 EXON Missense_I378T,Silent,Missense_I416T,Missense_I366T exm641254 7 100197670 [A/G] NM_033506,NR_038910,NM_012172,NM_001163499 FBXO24,PCOLCE-AS1,FBXO24,FBXO24 EXON Missense_R408Q,Silent,Missense_R446Q,Missense_R396Q exm641275 7 100198386 [T/C] NM_033506,NR_038910,NM_012172,NM_001163499 FBXO24,PCOLCE-AS1,FBXO24,FBXO24 EXON Missense_T536M,Silent,Missense_T574M,Missense_T524M exm641278 7 100198430 [A/G] NM_033506,NR_038910,NM_012172,NM_001163499 FBXO24,PCOLCE-AS1,FBXO24,FBXO24 EXON Missense_A551T,Silent,Missense_A589T,Missense_A539T exm641291 7 100201082 [A/T] NR_038910,NM_002593 PCOLCE-AS1,PCOLCE EXON Silent,Missense_K42M exm641303 7 100201829 [T/C] NM_002593 PCOLCE EXON Missense_T151I exm641306 7 100202740 [A/G] NM_002593 PCOLCE EXON Missense_E164K exm641318 7 100203360 [T/C] NM_002593 PCOLCE EXON Missense_S217L exm641323 7 100204134 [A/C] NM_002593 PCOLCE EXON Missense_P274Q exm641325 7 100204137 [A/G] NM_002593 PCOLCE EXON Missense_R275Q exm641331 7 100205102 [A/G] NM_002593 PCOLCE EXON Missense_R323H exm641334 7 100205113 [A/G] NM_002593 PCOLCE EXON Missense_T327A exm641336 7 100205261 [A/G] NM_002593 PCOLCE EXON Synonymous_V338V exm641337 7 100205269 [T/C] NM_002593 PCOLCE EXON Missense_A341V exm641340 7 100205400 [T/C] NM_002593 PCOLCE EXON Missense_P385S exm641346 7 100205602 [A/G] NM_002593 PCOLCE EXON Missense_G409D exm641349 7 100205641 [A/G] NM_002593 PCOLCE EXON Missense_R422Q exm641351 7 100205703 [T/C] NM_002593 PCOLCE EXON Missense_R443W exm641364 7 100211149 [A/C] NM_001040097,NM_001040098,NM_023948,NM_001040099 MOSPD3,MOSPD3,MOSPD3,MOSPD3 EXON Missense_R111S,Missense_R111S,Missense_R111S,Missense_R101S exm2133723 7 100211150 [A/G] NM_001040097,NM_001040098,NM_023948,NM_001040099 MOSPD3,MOSPD3,MOSPD3,MOSPD3 EXON Missense_R111H,Missense_R111H,Missense_R111H,Missense_R101H exm641366 7 100211254 [C/G] NM_001040097,NM_001040098,NM_023948,NM_001040099 MOSPD3,MOSPD3,MOSPD3,MOSPD3 EXON Missense_G146R,Missense_G146R,Missense_G146R,Missense_G136R exm641367 7 100211255 [A/G] NM_001040097,NM_001040098,NM_023948,NM_001040099 MOSPD3,MOSPD3,MOSPD3,MOSPD3 EXON Missense_G146E,Missense_G146E,Missense_G146E,Missense_G136E exm641372 7 100211329 [T/C] NM_001040097,NM_001040098,NM_023948,NM_001040099 MOSPD3,MOSPD3,MOSPD3,MOSPD3 EXON Missense_H171Y,Missense_H171Y,Missense_H171Y,Missense_H161Y exm2275956 7 100212496 [A/G] NM_001040097,NM_001040098,NM_023948,NM_001040099 MOSPD3,MOSPD3,MOSPD3,MOSPD3 EXON Missense_R173H,Missense_R173H,Missense_R173H,Missense_R163H exm641379 7 100212606 [A/G] NM_001040097,NM_001040098,NM_023948,NM_001040099 MOSPD3,MOSPD3,MOSPD3,MOSPD3 EXON Missense_V210I,Missense_V210I,Missense_V210I,Missense_V200I exm641381 7 100212615 [A/G] NM_001040097,NM_001040098,NM_023948,NM_001040099 MOSPD3,MOSPD3,MOSPD3,MOSPD3 EXON Missense_V213I,Missense_V213I,Missense_V213I,Missense_V203I exm-rs7786877 7 100214015 [A/G] exm641396 7 100218497 [T/C] NM_003227,NM_001206855 TFR2,TFR2 EXON Missense_I797V,Missense_I626V exm641398 7 100218512 [T/C] NM_003227,NM_001206855 TFR2,TFR2 EXON Missense_G792R,Missense_G621R exm641406 7 100218608 [T/C] NM_003227,NM_001206855 TFR2,TFR2 EXON Missense_G760R,Missense_G589R exm641414 7 100224387 [T/C] NM_003227,NM_001206855 TFR2,TFR2 EXON Missense_R712Q,Missense_R541Q exm641438 7 100225205 [T/A] NM_003227,NM_001206855 TFR2,TFR2 EXON Missense_M588L,Missense_M417L exm641446 7 100225705 [T/C] NM_003227,NM_001206855 TFR2,TFR2 EXON Missense_A510T,Missense_A339T exm641447 7 100225720 [T/C] NM_003227,NM_001206855 TFR2,TFR2 EXON Missense_V505M,Missense_V334M exm641454 7 100225847 [T/C] NM_003227,NM_001206855 TFR2,TFR2 EXON Synonymous_E491E,Synonymous_E320E exm641456 7 100225860 [A/G] NM_003227,NM_001206855 TFR2,TFR2 EXON Missense_T487M,Missense_T316M exm641458 7 100225917 [T/C] NM_003227,NM_001206855 TFR2,TFR2 EXON Missense_R468H,Missense_R297H exm641462 7 100226902 [T/C] NM_003227,NM_001206855 TFR2,TFR2 EXON Missense_R455Q,Missense_R284Q exm641464 7 100226905 [A/G] NM_003227,NM_001206855 TFR2,TFR2 EXON Missense_V454A,Missense_V283A exm641472 7 100228530 [T/C] NM_003227,NM_001206855 TFR2,TFR2 EXON Missense_E418K,Missense_E247K exm641473 7 100228539 [T/C] NM_003227,NM_001206855 TFR2,TFR2 EXON Missense_G415S,Missense_G244S exm641482 7 100228655 [T/G] NM_003227,NM_001206855 TFR2,TFR2 EXON Missense_A376D,Missense_A205D exm641483 7 100228664 [T/C] NM_003227,NM_001206855 TFR2,TFR2 EXON Missense_G373D,Missense_G202D exm641484 7 100229438 [T/C] NM_003227,NM_001206855 TFR2,TFR2 EXON Missense_R366H,Missense_R195H exm2133755 7 100229496 [T/C] NM_003227,NM_001206855 TFR2,TFR2 EXON Missense_A347T,Missense_A176T exm641494 7 100229766 [A/G] NM_003227,NM_001206855 TFR2,TFR2 EXON Missense_A302V,Missense_A131V exm641497 7 100230633 [G/C] NM_003227,NM_001206855 TFR2,TFR2 EXON Missense_F280L,Missense_F109L exm641503 7 100230864 [G/C] NM_003227,NM_001206855 TFR2,TFR2 EXON Missense_I238M,Missense_I67M exm-rs7385804 7 100235970 [A/C] NM_003227 TFR2 Silent exm641515 7 100238324 [A/G] NM_003227 TFR2 EXON Missense_L153P exm641519 7 100238401 [T/G] NM_003227 TFR2 EXON Missense_D127E exm641523 7 100238453 [A/G] NM_003227 TFR2 EXON Missense_A110V exm641617 7 100275376 [A/G] NM_005273 GNB2 EXON Synonymous_G144G exm641624 7 100275806 [A/G] NM_005273 GNB2 EXON Missense_D195N exm641626 7 100275813 [A/G] NM_005273 GNB2 EXON Missense_R197H exm641656 7 100279376 [A/G] NM_022574 GIGYF1 EXON Missense_S1025F exm641661 7 100279522 [T/C] NM_022574 GIGYF1 EXON Missense_R1007Q exm641665 7 100279553 [T/C] NM_022574 GIGYF1 EXON Missense_G997S exm641680 7 100279946 [A/G] NM_022574 GIGYF1 EXON Synonymous_D920D exm2258007 7 100279988 [A/G] NM_022574 GIGYF1 EXON Synonymous_C906C exm2258008 7 100280060 [T/C] NM_022574 GIGYF1 EXON Synonymous_T882T exm641688 7 100280070 [T/C] NM_022574 GIGYF1 EXON Missense_R879H exm641695 7 100280279 [A/G] NM_022574 GIGYF1 EXON Missense_P845L exm641712 7 100280938 [A/G] NM_022574 GIGYF1 EXON Missense_R728W exm641714 7 100280994 [T/C] NM_022574 GIGYF1 EXON Missense_R709H exm641717 7 100281048 [A/G] NM_022574 GIGYF1 EXON Missense_V691A exm641724 7 100281468 [T/C] NM_022574 GIGYF1 EXON Missense_V648I exm2133879 7 100281952 [T/C] NM_022574 GIGYF1 EXON Missense_M546I exm641761 7 100282716 [A/G] NM_022574 GIGYF1 EXON Missense_P416S exm641766 7 100282970 [T/C] NM_022574 GIGYF1 EXON Missense_E397K exm641776 7 100283081 [A/G] NM_022574 GIGYF1 EXON Missense_P360S exm641792 7 100283987 [T/C] NM_022574 GIGYF1 EXON Missense_R255Q exm2258009 7 100284297 [A/G] NM_022574 GIGYF1 EXON Synonymous_G223G exm641832 7 100285473 [T/C] NM_022574 GIGYF1 EXON Missense_A67T exm641834 7 100285476 [T/C] NM_022574 GIGYF1 EXON Missense_A66T exm641839 7 100285690 [T/G] NM_022574 GIGYF1 EXON Missense_P27T exm2258010 7 100304735 [T/G] NM_005837 POP7 EXON Synonymous_G94G exm641869 7 100304735 [T/G] NM_005837 POP7 EXON Synonymous_G94G exm641870 7 100304744 [C/G] NM_005837 POP7 EXON Missense_Q97H exm641871 7 100304745 [A/G] NM_005837 POP7 EXON Missense_V98M exm2258011 7 100304798 [T/C] NM_005837 POP7 EXON Synonymous_T115T exm641893 7 100319633 [A/G] NM_000799 EPO EXON Missense_D70N exm641895 7 100320290 [A/G] NM_000799 EPO EXON Missense_G84R exm641900 7 100320381 [T/C] NM_000799 EPO EXON Missense_P114L exm641908 7 100320614 [C/G] NM_000799 EPO EXON Missense_S147C exm641913 7 100320670 [T/C] NM_000799 EPO EXON Missense_R166C exm641952 7 100344205 [A/C] NM_003386,NM_173059 ZAN,ZAN EXON Missense_Q271K,Missense_Q271K exm-rs2075671 7 100345106 [A/G] NM_003386,NM_173059 ZAN,ZAN Silent,Silent exm641966 7 100345766 [A/G] NM_003386,NM_173059 ZAN,ZAN EXON Missense_V344M,Missense_V344M exm641974 7 100345979 [A/G] NM_003386,NM_173059 ZAN,ZAN EXON Missense_A379T,Missense_A379T exm641978 7 100346040 [A/G] NM_003386,NM_173059 ZAN,ZAN EXON Missense_H399R,Missense_H399R exm641983 7 100346078 [A/G] NM_003386,NM_173059 ZAN,ZAN EXON Missense_G412S,Missense_G412S exm641985 7 100346094 [A/G] NM_003386,NM_173059 ZAN,ZAN Silent,Silent exm2244595 7 100348277 [A/G] NM_003386,NM_173059 ZAN,ZAN EXON Missense_E427K,Missense_E427K exm641995 7 100348416 [T/C] NM_003386,NM_173059 ZAN,ZAN EXON Missense_A473V,Missense_A473V exm641997 7 100348428 [T/C] NM_003386,NM_173059 ZAN,ZAN EXON Missense_P477L,Missense_P477L exm642006 7 100348831 [G/C] NM_003386,NM_173059 ZAN,ZAN EXON Missense_S516R,Missense_S516R exm642008 7 100348847 [A/G] NM_003386,NM_173059 ZAN,ZAN EXON Missense_V522I,Missense_V522I exm642011 7 100348890 [T/G] NM_003386,NM_173059 ZAN,ZAN Silent,Silent exm642012 7 100349336 [A/G] NM_003386,NM_173059 ZAN,ZAN EXON Synonymous_V536V,Synonymous_V536V exm642031 7 100349764 [T/C] NM_003386,NM_173059 ZAN,ZAN EXON Missense_T679I,Missense_T679I exm642032 7 100349778 [A/G] NM_003386,NM_173059 ZAN,ZAN EXON Missense_I684V,Missense_I684V exm642043 7 100349884 [T/C] NM_003386,NM_173059 ZAN,ZAN EXON Missense_I719T,Missense_I719T exm642104 7 100350763 [T/G] NM_003386,NM_173059 ZAN,ZAN EXON Missense_L1012R,Missense_L1012R exm642105 7 100350850 [T/C] NM_003386,NM_173059 ZAN,ZAN EXON Missense_T1041I,Missense_T1041I exm642106 7 100352851 [T/C] NM_003386,NM_173059 ZAN,ZAN EXON Missense_R1043C,Missense_R1043C exm642110 7 100353022 [A/G] NM_003386,NM_173059 ZAN,ZAN EXON Missense_D1100N,Missense_D1100N exm642111 7 100355868 [A/G] NM_003386,NM_173059 ZAN,ZAN EXON Missense_R1118H,Missense_R1118H exm642112 7 100355879 [A/G] NM_003386,NM_173059 ZAN,ZAN EXON Missense_G1122S,Missense_G1122S exm642113 7 100355885 [T/C] NM_003386,NM_173059 ZAN,ZAN EXON Missense_R1124W,Missense_R1124W exm642116 7 100355924 [A/G] NM_003386,NM_173059 ZAN,ZAN EXON Missense_V1137M,Missense_V1137M exm642120 7 100356207 [T/G] NM_003386,NM_173059 ZAN,ZAN EXON Missense_G1169W,Missense_G1169W exm642128 7 100357398 [T/C] NM_003386,NM_173059 ZAN,ZAN EXON Missense_S1209F,Missense_S1209F exm642132 7 100357460 [T/C] NM_003386,NM_173059 ZAN,ZAN EXON Missense_R1230C,Missense_R1230C exm642134 7 100358036 [T/C] NM_003386,NM_173059 ZAN,ZAN EXON Missense_L1240P,Missense_L1240P exm642136 7 100358059 [A/G] NM_003386,NM_173059 ZAN,ZAN EXON Missense_V1248I,Missense_V1248I exm642139 7 100358090 [A/C] NM_003386,NM_173059 ZAN,ZAN EXON Missense_E1258A,Missense_E1258A exm642144 7 100358158 [A/G] NM_003386,NM_173059 ZAN,ZAN EXON Missense_S1281G,Missense_S1281G exm642147 7 100359859 [T/G] NM_003386,NM_173059 ZAN,ZAN EXON Missense_C1288W,Missense_C1288W exm642150 7 100359894 [A/G] NM_003386,NM_173059 ZAN,ZAN EXON Missense_N1300S,Missense_N1300S exm642161 7 100361452 [T/A] NM_003386,NM_173059 ZAN,ZAN EXON Missense_N1337I,Missense_N1337I exm642163 7 100361487 [A/G] NM_003386,NM_173059 ZAN,ZAN EXON Missense_M1349V,Missense_M1349V exm642168 7 100361675 [A/G] NM_003386,NM_173059 ZAN,ZAN EXON Missense_A1375T,Missense_A1375T exm642175 7 100361819 [T/C] NM_003386,NM_173059 ZAN,ZAN EXON Missense_P1423S,Missense_P1423S exm642181 7 100363052 [A/G] NM_003386,NM_173059 ZAN,ZAN EXON Missense_G1449S,Missense_G1449S exm642186 7 100363155 [A/C] NM_003386,NM_173059 ZAN,ZAN EXON Missense_H1483P,Missense_H1483P exm642189 7 100364182 [A/G] NM_003386,NM_173059 ZAN,ZAN EXON Missense_E1502G,Missense_E1502G exm642198 7 100364755 [A/C] NM_003386,NM_173059 ZAN,ZAN EXON Missense_S1579R,Missense_S1579R exm642202 7 100364807 [T/C] NM_003386,NM_173059 ZAN,ZAN EXON Missense_V1596A,Missense_V1596A exm642205 7 100365467 [A/G] NM_003386,NM_173059 ZAN,ZAN EXON Missense_R1625Q,Missense_R1625Q exm642207 7 100365509 [T/C] NM_003386,NM_173059 ZAN,ZAN EXON Missense_I1639T,Missense_I1639T exm642209 7 100365542 [A/C] NM_003386,NM_173059 ZAN,ZAN EXON Missense_T1650K,Missense_T1650K exm642213 7 100365613 [T/G] NM_003386,NM_173059 ZAN,ZAN EXON Missense_G1674C,Missense_G1674C exm642216 7 100366264 [A/C] NM_003386,NM_173059 ZAN,ZAN EXON Missense_N1691K,Missense_N1691K exm642218 7 100366284 [T/C] NM_003386,NM_173059 ZAN,ZAN EXON Missense_L1698P,Missense_L1698P exm642219 7 100366308 [C/G] NM_003386,NM_173059 ZAN,ZAN EXON Missense_G1706A,Missense_G1706A exm642221 7 100367558 [A/G] NM_003386,NM_173059 ZAN,ZAN EXON Missense_A1737T,Missense_A1737T exm642222 7 100367573 [T/C] NM_003386,NM_173059 ZAN,ZAN EXON Missense_C1742R,Missense_C1742R exm642226 7 100369544 [T/A] NM_003386,NM_173059 ZAN,ZAN EXON Nonsense_K1776X,Nonsense_K1776X exm642233 7 100369644 [G/C] NM_003386,NM_173059 ZAN,ZAN Silent,Silent exm642240 7 100371100 [A/C] NM_003386,NM_173059 ZAN,ZAN EXON Missense_A1873E,Missense_A1873E exm642243 7 100371114 [T/C] NM_003386,NM_173059 ZAN,ZAN EXON Missense_P1878S,Missense_P1878S exm642246 7 100371353 [T/C] NM_003386,NM_173059 ZAN,ZAN EXON Missense_R1882C,Missense_R1882C exm642247 7 100371358 [A/G] NM_003386,NM_173059 ZAN,ZAN EXON Nonsense_W1883X,Nonsense_W1883X exm642249 7 100371417 [A/G] NM_003386,NM_173059 ZAN,ZAN EXON Missense_C1903Y,Missense_C1903Y exm642250 7 100371473 [T/C] NM_003386,NM_173059 ZAN,ZAN EXON Missense_R1922C,Missense_R1922C exm642254 7 100371479 [C/G] NM_003386,NM_173059 ZAN,ZAN EXON Missense_G1924R,Missense_G1924R exm642261 7 100373077 [G/C] NM_003386,NM_173059 ZAN,ZAN EXON Missense_S1969C,Missense_S1969C exm642268 7 100373367 [C/G] NM_003386,NM_173059 ZAN,ZAN EXON Missense_A2035P,Missense_A2035P exm642274 7 100373446 [T/C] NM_003386,NM_173059 ZAN,ZAN EXON Missense_T2061I,Missense_T2061I exm642276 7 100374067 [T/C] NM_003386,NM_173059 ZAN,ZAN EXON Missense_A2066V,Missense_A2066V exm642277 7 100374087 [A/G] NM_003386,NM_173059 ZAN,ZAN EXON Missense_M2073V,Missense_M2073V exm642278 7 100374121 [T/C] NM_003386,NM_173059 ZAN,ZAN EXON Missense_A2084V,Missense_A2084V exm642280 7 100374129 [T/C] NM_003386,NM_173059 ZAN,ZAN EXON Missense_X2087Q,Missense_X2087Q exm642282 7 100377082 [T/C] NM_003386,NM_173059 ZAN,ZAN EXON Missense_W2111R,Missense_W2111R exm642288 7 100377181 [T/C] NM_003386,NM_173059 ZAN,ZAN EXON Missense_R2144C,Missense_R2144C exm642293 7 100377259 [T/C] NM_003386,NM_173059 ZAN,ZAN EXON Missense_S2170P,Missense_S2170P exm642298 7 100377346 [A/C] NM_003386,NM_173059 ZAN,ZAN EXON Missense_H2199N,Missense_H2199N exm642299 7 100377364 [A/G] NM_003386,NM_173059 ZAN,ZAN EXON Missense_A2205T,Missense_A2205T exm642303 7 100382291 [T/C] NM_003386,NM_173059 ZAN,ZAN EXON Missense_P2223L,Missense_P2223L exm642304 7 100382316 [A/G] NM_003386,NM_173059 ZAN,ZAN EXON Nonsense_W2231X,Nonsense_W2231X exm642314 7 100382437 [A/C] NM_003386,NM_173059 ZAN,ZAN EXON Missense_P2272T,Missense_P2272T exm642319 7 100383674 [A/G] NM_003386,NM_173059 ZAN,ZAN EXON Missense_E2297K,Missense_E2297K exm642325 7 100383750 [T/C] NM_003386,NM_173059 ZAN,ZAN EXON Missense_I2322T,Missense_I2322T exm642326 7 100385519 [A/C] NM_003386,NM_173059 ZAN,ZAN EXON Missense_N2329K,Missense_N2329K exm642327 7 100385532 [A/C] NM_003386,NM_173059 ZAN,ZAN EXON Missense_M2334L,Missense_M2334L exm642356 7 100386859 [A/C] NM_003386,NM_173059 ZAN,ZAN EXON Missense_P2416T,Missense_P2416T exm642357 7 100386860 [G/C] NM_003386,NM_173059 ZAN,ZAN EXON Missense_P2416R,Missense_P2416R exm642367 7 100388571 [T/C] NM_003386,NM_173059 ZAN,ZAN EXON Missense_P2455L,Missense_P2455L exm2258014 7 100388593 [T/C] NM_003386,NM_173059 ZAN,ZAN EXON Synonymous_G2462G,Synonymous_G2462G exm642371 7 100388628 [A/C] NM_003386,NM_173059 ZAN,ZAN EXON Missense_T2474N,Missense_T2474N exm642380 7 100389638 [T/C] NM_003386,NM_173059 ZAN,ZAN EXON Missense_R2527W,Missense_R2527W exm642384 7 100389677 [T/C] NM_003386,NM_173059 ZAN,ZAN EXON Nonsense_R2540X,Nonsense_R2540X exm642405 7 100391552 [T/C] NM_003386,NM_173059 ZAN,ZAN EXON Missense_C2633R,Silent exm2258015 7 100391581 [T/C] NM_003386,NM_173059 ZAN,ZAN EXON Synonymous_S2642S,Silent exm642414 7 100391858 [A/C] NM_003386,NM_173059 ZAN,ZAN EXON Missense_T2701N,Silent exm642416 7 100392824 [T/C] NM_003386,NM_173059 ZAN,ZAN EXON Missense_R2711C,Missense_R2620C exm642422 7 100392888 [G/C] NM_003386,NM_173059 ZAN,ZAN EXON Missense_A2732G,Missense_A2641G exm642424 7 100395003 [G/C] NM_003386,NM_173059 ZAN,ZAN EXON Missense_A2761P,Missense_A2670P exm642427 7 100395024 [A/T] NM_003386,NM_173059 ZAN,ZAN EXON Missense_C2768S,Missense_C2677S exm642431 7 100395208 [A/G] NM_003386,NM_173059 ZAN,ZAN EXON Missense_R2792H,Missense_R2701H exm642439 7 100401183 [A/G] NM_004444 EPHB4 EXON Missense_A955V exm642445 7 100402842 [T/C] NM_004444 EPHB4 EXON Missense_S927N exm642455 7 100402924 [C/G] NM_004444 EPHB4 EXON Missense_D900H exm642457 7 100403123 [A/C] NM_004444 EPHB4 EXON Missense_G893V exm642458 7 100403124 [T/C] NM_004444 EPHB4 EXON Missense_G893R exm642459 7 100403131 [A/C] NM_004444 EPHB4 EXON Missense_E890D exm642462 7 100403157 [T/C] NM_004444 EPHB4 EXON Missense_A882T exm2258016 7 100411287 [A/G] NM_004444 EPHB4 EXON Synonymous_Y581Y exm2244606 7 100411302 [C/G] NM_004444 EPHB4 EXON Missense_D576E exm642508 7 100411628 [T/C] NM_004444 EPHB4 EXON Missense_R535Q exm642517 7 100414928 [T/C] NM_004444 EPHB4 EXON Missense_A492T exm642523 7 100416180 [T/C] NM_004444 EPHB4 EXON Missense_G462R exm642526 7 100416192 [A/G] NM_004444 EPHB4 EXON Missense_R458W exm642532 7 100416233 [A/C] NM_004444 EPHB4 EXON Missense_R444L exm642536 7 100417218 [T/C] NM_004444 EPHB4 EXON Missense_V420I exm642546 7 100417397 [T/C] NM_004444 EPHB4 EXON Missense_R360H exm642547 7 100417409 [G/C] NM_004444 EPHB4 EXON Missense_T356S exm642566 7 100419998 [A/G] NM_004444 EPHB4 EXON Missense_P235S exm642569 7 100420019 [T/C] NM_004444 EPHB4 EXON Missense_V228I exm642589 7 100421340 [T/C] NM_004444 EPHB4 EXON Missense_V113I exm2270656 7 100431980 [T/C] exm642631 7 100451898 [A/G] NM_001267814,NM_020246,NM_001267812 SLC12A9,SLC12A9,SLC12A9 EXON Missense_G27R,Missense_G27R,Missense_G27R exm642632 7 100451907 [A/G] NM_001267814,NM_020246,NM_001267812 SLC12A9,SLC12A9,SLC12A9 EXON Missense_G30R,Missense_G30R,Missense_G30R exm-rs314370 7 100453208 [T/C] NM_001267814,NM_020246,NM_001267812 SLC12A9,SLC12A9,SLC12A9 Silent,Silent,Silent exm642650 7 100453456 [A/G] NM_001267814,NM_020246,NM_001267812 SLC12A9,SLC12A9,SLC12A9 EXON Silent,Missense_A149T,Missense_A149T exm642651 7 100453458 [T/C] NM_001267814,NM_020246,NM_001267812 SLC12A9,SLC12A9,SLC12A9 EXON Silent,Synonymous_A149A,Synonymous_A149A exm642655 7 100454534 [A/G] NM_001267814,NM_020246,NM_001267812 SLC12A9,SLC12A9,SLC12A9 EXON Missense_G76S,Missense_G165S,Missense_G165S exm642660 7 100454700 [T/G] NM_001267814,NM_020246,NM_001267812 SLC12A9,SLC12A9,SLC12A9 EXON Missense_R131L,Missense_R220L,Missense_R220L exm642661 7 100454724 [A/G] NM_001267814,NM_020246,NM_001267812 SLC12A9,SLC12A9,SLC12A9 EXON Missense_N139S,Missense_N228S,Missense_N228S exm642669 7 100454796 [A/G] NM_001267814,NM_020246,NM_001267812 SLC12A9,SLC12A9,SLC12A9 EXON Missense_G163D,Missense_G252D,Missense_G252D exm642687 7 100456725 [A/G] NM_001267814,NM_020246,NM_001267812 SLC12A9,SLC12A9,SLC12A9 EXON Missense_A218T,Missense_A307T,Missense_A307T exm642692 7 100457541 [A/G] NM_001267814,NM_020246,NM_001267812 SLC12A9,SLC12A9,SLC12A9 EXON Missense_A249T,Missense_A338T,Missense_A338T exm642693 7 100457578 [T/C] NM_001267814,NM_020246,NM_001267812 SLC12A9,SLC12A9,SLC12A9 EXON Missense_I261T,Missense_I350T,Missense_I350T exm642702 7 100457773 [T/C] NM_001267814,NM_020246,NM_001267812 SLC12A9,SLC12A9,SLC12A9 EXON Synonymous_G290G,Synonymous_G379G,Synonymous_G379G exm-rs7801190 7 100458093 [C/G] NM_001267814,NM_020246,NM_001267812 SLC12A9,SLC12A9,SLC12A9 Silent,Silent,Silent exm642708 7 100458812 [T/C] NM_001267814,NM_020246,NM_001267812 SLC12A9,SLC12A9,SLC12A9 EXON Missense_F335S,Missense_F424S,Missense_F424S exm642709 7 100458835 [A/G] NM_001267814,NM_020246,NM_001267812 SLC12A9,SLC12A9,SLC12A9 EXON Missense_V343M,Missense_V432M,Missense_V432M exm642714 7 100459091 [A/G] NM_001267814,NM_020246,NM_001267812 SLC12A9,SLC12A9,SLC12A9 EXON Missense_S385N,Missense_S474N,Missense_S474N exm642765 7 100463775 [T/C] NM_020246 SLC12A9 EXON Missense_R765W exm642769 7 100463839 [A/G] NM_020246 SLC12A9 EXON Missense_R786Q exm642802 7 100465747 [T/G] NM_003302 TRIP6 EXON Missense_R85S exm642807 7 100465800 [T/C] NM_003302 TRIP6 EXON Missense_T103M exm642810 7 100465824 [A/G] NM_003302 TRIP6 EXON Missense_R111Q exm642812 7 100465842 [A/G] NM_003302 TRIP6 EXON Missense_R117Q exm642823 7 100466304 [T/C] NM_003302 TRIP6 EXON Missense_P184L exm642825 7 100466350 [A/C] NM_003302 TRIP6 EXON Missense_H199Q exm642831 7 100466441 [A/G] NM_003302 TRIP6 EXON Missense_V230I exm642839 7 100468078 [G/C] NM_003302 TRIP6 EXON Missense_E274D exm642858 7 100469223 [T/C] NM_003302 TRIP6 EXON Missense_A353V exm642871 7 100470824 [A/G] NM_003302 TRIP6 EXON Missense_E444K exm2274257 7 100479385 [A/C] NM_001128852,NM_001128854,NM_001128853,NM_015908 SRRT,SRRT,SRRT,SRRT EXON Missense_D119E,Missense_D119E,Missense_D119E,Missense_D119E exm642903 7 100481729 [A/G] NM_001128852,NM_001128854,NM_001128853,NM_015908 SRRT,SRRT,SRRT,SRRT EXON Missense_R209H,Missense_R209H,Missense_R209H,Missense_R209H exm642910 7 100481800 [T/G] NM_001128852,NM_001128854,NM_001128853,NM_015908 SRRT,SRRT,SRRT,SRRT EXON Missense_F233V,Missense_F233V,Missense_F233V,Missense_F233V exm642918 7 100481990 [T/C] NM_001128852,NM_001128854,NM_001128853,NM_015908 SRRT,SRRT,SRRT,SRRT EXON Synonymous_A253A,Synonymous_A253A,Synonymous_A253A,Synonymous_A253A exm642921 7 100482050 [C/G] NM_001128852,NM_001128854,NM_001128853,NM_015908 SRRT,SRRT,SRRT,SRRT EXON Missense_E273D,Missense_E273D,Missense_E273D,Missense_E273D exm642927 7 100482130 [A/G] NM_001128852,NM_001128854,NM_001128853,NM_015908 SRRT,SRRT,SRRT,SRRT EXON Missense_R300H,Missense_R300H,Missense_R300H,Missense_R300H exm642935 7 100482435 [A/C] NM_001128852,NM_001128854,NM_001128853,NM_015908 SRRT,SRRT,SRRT,SRRT EXON Missense_E339D,Missense_E339D,Missense_E339D,Missense_E339D exm642941 7 100482649 [A/G] NM_001128852,NM_001128854,NM_001128853,NM_015908 SRRT,SRRT,SRRT,SRRT EXON Missense_K383E,Missense_K383E,Missense_K383E,Missense_K383E exm642945 7 100482888 [A/C] NM_001128852,NM_001128854,NM_001128853,NM_015908 SRRT,SRRT,SRRT,SRRT EXON Missense_K404T,Missense_K404T,Missense_K405T,Missense_K405T exm642970 7 100483932 [A/G] NM_001128852,NM_001128854,NM_001128853,NM_015908 SRRT,SRRT,SRRT,SRRT EXON Missense_N507S,Missense_N507S,Missense_N508S,Missense_N508S exm642986 7 100484779 [A/G] NM_001128852,NM_001128854,NM_001128853,NM_015908 SRRT,SRRT,SRRT,SRRT EXON Missense_V644I,Missense_V644I,Missense_V645I,Missense_V645I exm643013 7 100485989 [T/G] NM_001128852,NM_001128854,NM_001128853,NM_015908 SRRT,SRRT,SRRT,SRRT EXON Missense_G846V,Missense_G842V,Missense_G843V,Missense_G847V exm643027 7 100486285 [T/G] NM_001128852,NM_001128854,NM_001128853,NM_015908 SRRT,SRRT,SRRT,SRRT EXON Silent,Silent,Silent,Silent exm643029 7 100486464 [T/G] NM_001015072 UFSP1 EXON Missense_X143C exm643033 7 100486499 [A/G] NM_001015072 UFSP1 EXON Missense_L132F exm643034 7 100486520 [A/G] NM_001015072 UFSP1 EXON Missense_Y125H exm643051 7 100486702 [A/C] NM_001015072 UFSP1 EXON Missense_G64V exm643074 7 100488658 [G/C] NM_000665,NM_015831 ACHE,ACHE EXON Silent,Missense_P592R exm2134294 7 100490074 [A/G] NM_000665,NM_015831 ACHE,ACHE EXON Synonymous_H478H,Synonymous_H478H exm-rs7636 7 100490077 [A/G] NM_000665,NM_015831 ACHE,ACHE EXON Synonymous_P477P,Synonymous_P477P exm643093 7 100490136 [T/C] NM_000665,NM_015831 ACHE,ACHE EXON Missense_A458T,Missense_A458T exm643106 7 100490797 [T/G] NM_000665,NM_015831 ACHE,ACHE EXON Missense_H353N,Missense_H353N exm643112 7 100490980 [T/C] NM_000665,NM_015831 ACHE,ACHE EXON Missense_G292S,Missense_G292S exm643136 7 100491441 [A/C] NM_000665,NM_015831 ACHE,ACHE EXON Missense_R138L,Missense_R138L exm643137 7 100491451 [G/C] NM_000665,NM_015831 ACHE,ACHE EXON Missense_P135A,Missense_P135A exm643141 7 100491588 [T/C] NM_000665,NM_015831 ACHE,ACHE EXON Missense_G89E,Missense_G89E exm643144 7 100491685 [T/C] NM_000665,NM_015831 ACHE,ACHE EXON Missense_G57R,Missense_G57R exm643150 7 100491753 [T/C] NM_000665,NM_015831 ACHE,ACHE EXON Missense_R34Q,Missense_R34Q exm2266553 7 100529261 [A/G] exm643565 7 100612961 [C/G] NM_001164462 MUC12 EXON Missense_V20L exm643587 7 100633938 [A/G] NM_001164462 MUC12 EXON Missense_G32S exm643590 7 100634145 [A/G] NM_001164462 MUC12 EXON Missense_A101T exm643597 7 100634356 [A/G] NM_001164462 MUC12 EXON Missense_R171Q exm643598 7 100634358 [T/C] NM_001164462 MUC12 EXON Missense_P172S exm643600 7 100634386 [T/C] NM_001164462 MUC12 EXON Missense_P181L exm643602 7 100634409 [A/G] NM_001164462 MUC12 EXON Missense_V189I exm2244627 7 100634643 [A/G] NM_001164462 MUC12 EXON Missense_S267G exm2244631 7 100634718 [T/C] NM_001164462 MUC12 EXON Missense_S292P exm2244632 7 100634763 [A/G] NM_001164462 MUC12 EXON Missense_S307G exm643627 7 100634887 [A/G] NM_001164462 MUC12 EXON Missense_R348H exm643628 7 100634892 [A/G] NM_001164462 MUC12 EXON Missense_A350T exm643640 7 100635117 [T/C] NM_001164462 MUC12 EXON Missense_R425C exm643642 7 100635205 [T/C] NM_001164462 MUC12 EXON Missense_A454V exm643644 7 100635210 [T/C] NM_001164462 MUC12 EXON Missense_S456P exm643650 7 100635336 [A/G] NM_001164462 MUC12 EXON Missense_S498G exm643697 7 100636327 [A/G] NM_001164462 MUC12 EXON Missense_S828N exm643763 7 100638941 [C/G] NM_001164462 MUC12 EXON Missense_M1699I exm643829 7 100647511 [T/C] NM_001164462 MUC12 EXON Missense_T4556I exm2264245 7 100647920 [A/C] NM_001164462 MUC12 EXON Synonymous_T4692T exm643857 7 100647976 [C/G] NM_001164462 MUC12 EXON Missense_S4711C exm643858 7 100647996 [T/C] NM_001164462 MUC12 EXON Missense_P4718S exm643860 7 100648029 [A/G] NM_001164462 MUC12 EXON Missense_A4729T exm643862 7 100648044 [G/C] NM_001164462 MUC12 EXON Missense_L4734V exm643865 7 100648117 [G/C] NM_001164462 MUC12 EXON Missense_T4758R exm643873 7 100648476 [T/C] NM_001164462 MUC12 EXON Missense_S4878P exm643883 7 100649847 [T/C] NM_001164462 MUC12 EXON Missense_P5018S exm2244687 7 100656407 [A/C] NM_001164462 MUC12 EXON Missense_S5208R exm643905 7 100663420 [A/C] NM_001040105 MUC17 EXON Missense_P2T exm643907 7 100663466 [T/C] NM_001040105 MUC17 EXON Missense_S17L exm643910 7 100674464 [A/G] NM_001040105 MUC17 EXON Missense_N49S exm643912 7 100674467 [A/G] NM_001040105 MUC17 EXON Missense_R50H exm643915 7 100674899 [A/G] NM_001040105 MUC17 EXON Missense_A68T exm643920 7 100674978 [T/C] NM_001040105 MUC17 EXON Missense_I94T exm643922 7 100675023 [A/G] NM_001040105 MUC17 EXON Missense_R109K exm643926 7 100675082 [T/C] NM_001040105 MUC17 EXON Missense_F129L exm643928 7 100675128 [A/G] NM_001040105 MUC17 EXON Missense_G144D exm643934 7 100675164 [A/G] NM_001040105 MUC17 EXON Missense_S156N exm643942 7 100675367 [A/G] NM_001040105 MUC17 EXON Missense_S224G exm643945 7 100675376 [A/C] NM_001040105 MUC17 EXON Missense_K227Q exm643953 7 100675512 [A/G] NM_001040105 MUC17 EXON Missense_G272E exm643954 7 100675538 [A/C] NM_001040105 MUC17 EXON Missense_P281T exm643956 7 100675572 [T/C] NM_001040105 MUC17 EXON Missense_A292V exm643960 7 100675713 [T/C] NM_001040105 MUC17 EXON Missense_T339M exm643963 7 100675736 [A/G] NM_001040105 MUC17 EXON Missense_A347T exm643964 7 100675758 [T/A] NM_001040105 MUC17 EXON Missense_L354H exm643965 7 100675761 [T/C] NM_001040105 MUC17 EXON Missense_S355L exm643967 7 100675817 [T/C] NM_001040105 MUC17 EXON Missense_L374F exm643970 7 100675864 [T/G] NM_001040105 MUC17 EXON Missense_S389R exm643976 7 100675940 [A/G] NM_001040105 MUC17 EXON Missense_T415A exm643978 7 100675959 [T/A] NM_001040105 MUC17 EXON Missense_K421I exm643979 7 100675976 [A/G] NM_001040105 MUC17 EXON Missense_A427T exm643982 7 100676037 [T/C] NM_001040105 MUC17 EXON Missense_P447L exm644003 7 100676409 [T/C] NM_001040105 MUC17 EXON Missense_P571L exm644009 7 100676463 [C/G] NM_001040105 MUC17 EXON Missense_T589S exm644036 7 100676930 [T/G] NM_001040105 MUC17 EXON Nonsense_G745X exm644044 7 100677021 [A/G] NM_001040105 MUC17 EXON Missense_S775N exm644046 7 100677069 [T/C] NM_001040105 MUC17 EXON Missense_T791I exm644053 7 100677161 [T/G] NM_001040105 MUC17 EXON Nonsense_E822X exm644085 7 100677483 [T/C] NM_001040105 MUC17 EXON Missense_M929T exm644213 7 100678498 [G/C] NM_001040105 MUC17 EXON Missense_S1267R exm644217 7 100678527 [T/G] NM_001040105 MUC17 EXON Missense_S1277I exm644225 7 100678593 [T/C] NM_001040105 MUC17 EXON Missense_L1299S exm644228 7 100678610 [T/A] NM_001040105 MUC17 EXON Missense_T1305S exm644233 7 100678653 [T/C] NM_001040105 MUC17 EXON Missense_P1319L exm644234 7 100678658 [A/C] NM_001040105 MUC17 EXON Missense_P1321T exm2244694 7 100678719 [A/G] NM_001040105 MUC17 EXON Missense_S1341N exm644244 7 100678773 [T/C] NM_001040105 MUC17 EXON Missense_T1359I exm644271 7 100679007 [T/C] NM_001040105 MUC17 EXON Missense_P1437L exm644273 7 100679015 [A/G] NM_001040105 MUC17 EXON Missense_A1440T exm644275 7 100679024 [A/G] NM_001040105 MUC17 EXON Missense_I1443V exm644284 7 100679077 [A/G] NM_001040105 MUC17 EXON Missense_I1460M exm644332 7 100679454 [T/C] NM_001040105 MUC17 EXON Missense_V1586A exm644342 7 100679513 [A/G] NM_001040105 MUC17 EXON Missense_A1606T exm644344 7 100679519 [A/G] NM_001040105 MUC17 EXON Missense_T1608A exm644345 7 100679525 [A/G] NM_001040105 MUC17 EXON Missense_A1610T exm644382 7 100679754 [C/G] NM_001040105 MUC17 EXON Missense_T1686S exm644383 7 100679760 [A/G] NM_001040105 MUC17 EXON Missense_G1688E exm644385 7 100679778 [A/G] NM_001040105 MUC17 EXON Missense_S1694N exm644412 7 100679997 [A/G] NM_001040105 MUC17 EXON Missense_S1767N exm644455 7 100680346 [A/C] NM_001040105 MUC17 EXON Missense_E1883D exm644468 7 100680386 [C/G] NM_001040105 MUC17 EXON Missense_P1897A exm2275961 7 100680434 [A/G] NM_001040105 MUC17 EXON Missense_G1913S exm644480 7 100680438 [A/G] NM_001040105 MUC17 EXON Missense_S1914N exm644488 7 100680521 [A/G] NM_001040105 MUC17 EXON Missense_E1942K exm2134457 7 100680549 [A/C] NM_001040105 MUC17 EXON Missense_A1951D exm644518 7 100680839 [C/G] NM_001040105 MUC17 EXON Missense_G2048R exm644521 7 100680858 [T/C] NM_001040105 MUC17 EXON Missense_T2054M exm644530 7 100680951 [T/C] NM_001040105 MUC17 EXON Missense_A2085V exm644534 7 100681022 [G/C] NM_001040105 MUC17 EXON Missense_L2109V exm644552 7 100681172 [A/G] NM_001040105 MUC17 EXON Missense_R2159G exm644575 7 100681359 [G/C] NM_001040105 MUC17 EXON Missense_P2221R exm644578 7 100681367 [A/G] NM_001040105 MUC17 EXON Missense_S2224G exm644591 7 100681503 [T/G] NM_001040105 MUC17 EXON Missense_I2269R exm644595 7 100681530 [T/C] NM_001040105 MUC17 EXON Missense_T2278M exm644623 7 100681751 [A/G] NM_001040105 MUC17 EXON Missense_S2352G exm644627 7 100681769 [A/C] NM_001040105 MUC17 EXON Missense_L2358I exm644649 7 100681937 [A/G] NM_001040105 MUC17 EXON Missense_A2414T exm644724 7 100682367 [T/C] NM_001040105 MUC17 EXON Missense_T2557I exm2274259 7 100682565 [T/G] NM_001040105 MUC17 EXON Missense_M2623R exm644746 7 100682571 [T/C] NM_001040105 MUC17 EXON Missense_I2625T exm644748 7 100682580 [T/C] NM_001040105 MUC17 EXON Missense_P2628L exm644764 7 100682760 [A/G] NM_001040105 MUC17 EXON Missense_G2688D exm644774 7 100682831 [G/C] NM_001040105 MUC17 EXON Missense_L2712V exm644795 7 100683120 [C/G] NM_001040105 MUC17 EXON Missense_T2808R exm644798 7 100683156 [T/C] NM_001040105 MUC17 EXON Missense_T2820M exm644836 7 100683690 [T/C] NM_001040105 MUC17 EXON Missense_P2998L exm2244719 7 100683837 [T/C] NM_001040105 MUC17 EXON Missense_P3047L exm644867 7 100683993 [A/C] NM_001040105 MUC17 EXON Missense_T3099N exm644884 7 100684172 [T/C] NM_001040105 MUC17 EXON Missense_P3159S exm644901 7 100684358 [A/G] NM_001040105 MUC17 EXON Missense_M3221V exm644928 7 100684686 [T/C] NM_001040105 MUC17 EXON Missense_M3330T exm644958 7 100685067 [A/G] NM_001040105 MUC17 EXON Missense_S3457N exm644962 7 100685103 [T/C] NM_001040105 MUC17 EXON Missense_P3469L exm2274260 7 100685196 [A/C] NM_001040105 MUC17 EXON Missense_T3500K exm644968 7 100685219 [A/C] NM_001040105 MUC17 EXON Missense_P3508T exm644976 7 100685330 [A/C] NM_001040105 MUC17 EXON Missense_N3545H exm644977 7 100685355 [A/C] NM_001040105 MUC17 EXON Missense_Q3553P exm644979 7 100685397 [A/G] NM_001040105 MUC17 EXON Missense_R3567H exm644980 7 100685436 [G/C] NM_001040105 MUC17 EXON Missense_T3580S exm644985 7 100685578 [A/G] NM_001040105 MUC17 EXON Missense_M3627I exm2134514 7 100685612 [A/C] NM_001040105 MUC17 EXON Missense_I3639L exm644987 7 100685634 [T/C] NM_001040105 MUC17 EXON Missense_S3646L exm644992 7 100685673 [A/C] NM_001040105 MUC17 EXON Missense_P3659H exm2134515 7 100685691 [T/C] NM_001040105 MUC17 EXON Missense_P3665L exm644994 7 100685709 [A/G] NM_001040105 MUC17 EXON Missense_Q3671R exm644995 7 100685715 [A/G] NM_001040105 MUC17 EXON Missense_S3673N exm644996 7 100685727 [T/C] NM_001040105 MUC17 EXON Missense_V3677A exm644998 7 100685742 [C/G] NM_001040105 MUC17 EXON Missense_T3682S exm644999 7 100685760 [T/C] NM_001040105 MUC17 EXON Missense_T3688M exm2274262 7 100685775 [T/G] NM_001040105 MUC17 EXON Missense_S3693I exm645010 7 100685948 [A/C] NM_001040105 MUC17 EXON Missense_I3751L exm645012 7 100685994 [T/C] NM_001040105 MUC17 EXON Missense_T3766M exm645015 7 100686115 [A/G] NM_001040105 MUC17 EXON Missense_M3806I exm645024 7 100686287 [A/G] NM_001040105 MUC17 EXON Missense_I3864V exm2277334 7 100686356 [A/C] NM_001040105 MUC17 EXON Missense_T3887P exm645036 7 100686491 [C/G] NM_001040105 MUC17 EXON Missense_G3932R exm645037 7 100686498 [T/C] NM_001040105 MUC17 EXON Missense_T3934I exm645038 7 100686500 [C/G] NM_001040105 MUC17 EXON Missense_P3935A exm645047 7 100686693 [A/C] NM_001040105 MUC17 EXON Missense_A3999E exm645051 7 100686801 [A/G] NM_001040105 MUC17 EXON Missense_H4035R exm2258027 7 100686943 [A/G] NM_001040105 MUC17 EXON Synonymous_T4082T exm645059 7 100686943 [A/G] NM_001040105 MUC17 EXON Synonymous_T4082T exm645071 7 100691288 [A/T] NM_001040105 MUC17 EXON Missense_T4143S exm645074 7 100691291 [A/G] NM_001040105 MUC17 EXON Missense_A4144T exm645075 7 100691298 [A/G] NM_001040105 MUC17 EXON Missense_R4146H exm645080 7 100691373 [A/G] NM_001040105 MUC17 EXON Missense_E4171G exm645086 7 100692149 [T/C] NM_001040105 MUC17 EXON Nonsense_Q4187X exm645087 7 100692151 [A/C] NM_001040105 MUC17 EXON Missense_Q4187H exm645091 7 100692191 [A/G] NM_001040105 MUC17 EXON Missense_E4201K exm645092 7 100692224 [G/C] NM_001040105 MUC17 EXON Missense_Q4212E exm645096 7 100692603 [A/C] NM_001040105 MUC17 Silent exm645100 7 100693781 [A/G] NM_001040105 MUC17 EXON Missense_V4247M exm645104 7 100693848 [T/C] NM_001040105 MUC17 EXON Missense_T4269I exm645111 7 100694953 [A/G] NM_001040105 MUC17 EXON Missense_D4312N exm645116 7 100695131 [A/G] NM_001040105 MUC17 EXON Missense_E4331K exm645117 7 100695138 [A/G] NM_001040105 MUC17 EXON Missense_R4333Q exm645119 7 100695140 [A/G] NM_001040105 MUC17 EXON Missense_D4334N exm2134552 7 100696271 [A/G] NM_001040105 MUC17 EXON Missense_V4370M exm645128 7 100696400 [A/G] NM_001040105 MUC17 EXON Missense_V4413I exm645132 7 100696427 [T/C] NM_001040105 MUC17 EXON Missense_R4422W exm645137 7 100696663 [T/G] NM_001040105 MUC17 EXON Missense_D4437Y exm645139 7 100699516 [T/C] NM_001040105 MUC17 EXON Nonsense_Q4469X exm645141 7 100701287 [T/C] NM_001040105 MUC17 EXON Nonsense_R4482X exm645142 7 100701288 [A/G] NM_001040105 MUC17 EXON Missense_R4482Q exm645170 7 100731026 [T/C] NM_030961 TRIM56 EXON Missense_R145C exm645171 7 100731027 [A/G] NM_030961 TRIM56 EXON Missense_R145H exm645188 7 100731471 [G/C] NM_030961 TRIM56 EXON Missense_A293G exm645198 7 100731638 [T/C] NM_030961 TRIM56 EXON Missense_L349F exm645202 7 100731777 [A/G] NM_030961 TRIM56 EXON Missense_R395Q exm645209 7 100731873 [T/C] NM_030961 TRIM56 EXON Missense_T427I exm645224 7 100732190 [T/C] NM_030961 TRIM56 EXON Missense_R533C exm645229 7 100732226 [T/C] NM_030961 TRIM56 EXON Missense_P545S exm645247 7 100732424 [T/G] NM_030961 TRIM56 EXON Missense_V611L exm645255 7 100732598 [A/G] NM_030961 TRIM56 EXON Missense_G669R exm645257 7 100732643 [A/G] NM_030961 TRIM56 EXON Missense_V684M exm645271 7 100732805 [A/G] NM_030961 TRIM56 EXON Missense_V738M exm645273 7 100732844 [T/C] NM_030961 TRIM56 EXON Missense_R751C exm645281 7 100771723 [A/G] NM_001165413,NM_000602 SERPINE1,SERPINE1 EXON Missense_V17I,Missense_V17I exm645283 7 100771765 [A/G] NM_001165413,NM_000602 SERPINE1,SERPINE1 EXON Silent,Missense_V31M exm645292 7 100773786 [T/C] NM_001165413,NM_000602 SERPINE1,SERPINE1 EXON Missense_A104V,Missense_A119V exm645304 7 100775174 [T/C] NM_001165413,NM_000602 SERPINE1,SERPINE1 EXON Missense_L160P,Missense_L175P exm645311 7 100775260 [A/G] NM_001165413,NM_000602 SERPINE1,SERPINE1 EXON Missense_D189N,Missense_D204N exm645312 7 100775270 [T/C] NM_001165413,NM_000602 SERPINE1,SERPINE1 EXON Missense_T192I,Missense_T207I exm645316 7 100775300 [A/G] NM_001165413,NM_000602 SERPINE1,SERPINE1 EXON Missense_G202D,Missense_G217D exm645318 7 100775345 [A/G] NM_001165413,NM_000602 SERPINE1,SERPINE1 EXON Missense_N217S,Missense_N232S exm2274263 7 100776988 [T/C] NM_001165413,NM_000602 SERPINE1,SERPINE1 EXON Missense_T223M,Missense_T238M exm645329 7 100778864 [T/C] NM_001165413,NM_000602 SERPINE1,SERPINE1 EXON Missense_T315M,Missense_T330M exm645364 7 100802407 [C/G] NM_001283 AP1S1 EXON Missense_G120A exm645376 7 100806341 [A/C] NM_003378 VGF EXON Missense_R595L exm645399 7 100806802 [G/C] NM_003378 VGF EXON Missense_E441D exm645433 7 100807419 [A/G] NM_003378 VGF EXON Missense_P236S exm645438 7 100807806 [C/G] NM_003378 VGF EXON Missense_E107Q exm645441 7 100807886 [T/C] NM_003378 VGF EXON Missense_R80Q exm645456 7 100815373 [T/C] NM_198571 NAT16 EXON Missense_E366G exm645465 7 100815701 [A/G] NM_198571 NAT16 EXON Missense_R257C exm645495 7 100817818 [T/G] NM_198571 NAT16 EXON Missense_P91T exm645498 7 100817901 [A/G] NM_198571 NAT16 EXON Missense_F63S exm645512 7 100818057 [T/G] NM_198571 NAT16 EXON Missense_T11N exm645516 7 100839253 [T/C] NM_178176 MOGAT3 EXON Missense_A334T exm645518 7 100839291 [A/T] NM_178176 MOGAT3 EXON Missense_Q321L exm645526 7 100839551 [G/C] NM_178176 MOGAT3 EXON Missense_S263C exm645529 7 100839654 [T/C] NM_178176 MOGAT3 EXON Missense_V229M exm645535 7 100841533 [T/C] NM_178176 MOGAT3 EXON Missense_G203R exm645539 7 100841560 [A/C] NM_178176 MOGAT3 EXON Missense_A194S exm645541 7 100841590 [G/C] NM_178176 MOGAT3 EXON Missense_G184R exm645543 7 100841646 [C/G] NM_178176 MOGAT3 EXON Missense_G165A exm645545 7 100841925 [A/C] NM_178176 MOGAT3 EXON Missense_D159Y exm645546 7 100841934 [C/G] NM_178176 MOGAT3 EXON Missense_V156L exm645547 7 100841936 [A/G] NM_178176 MOGAT3 EXON Missense_P155L exm645550 7 100842036 [T/C] NM_178176 MOGAT3 EXON Missense_G122S exm645553 7 100843556 [A/G] NM_178176 MOGAT3 EXON Missense_R83W exm645557 7 100843696 [C/G] NM_178176 MOGAT3 EXON Synonymous_P70P exm2258028 7 100843696 [C/G] NM_178176 MOGAT3 EXON Synonymous_P70P exm645564 7 100843776 [T/C] NM_178176 MOGAT3 EXON Missense_V44I exm645568 7 100844119 [A/G] NM_178176 MOGAT3 EXON Missense_T6I exm645598 7 100850908 [A/G] NM_001084 PLOD3 EXON Missense_T629M exm645599 7 100850911 [T/C] NM_001084 PLOD3 EXON Missense_R628Q exm645609 7 100852166 [C/G] NM_001084 PLOD3 EXON Missense_H586D exm645616 7 100853611 [T/C] NM_001084 PLOD3 Silent exm645617 7 100853612 [A/G] NM_001084 PLOD3 EXON Synonymous_V538V exm2134702 7 100853658 [A/G] NM_001084 PLOD3 EXON Missense_T523M exm645621 7 100853698 [A/G] NM_001084 PLOD3 EXON Missense_H510Y exm645626 7 100853847 [A/G] NM_001084 PLOD3 EXON Missense_P489L exm2134709 7 100853865 [A/G] NM_001084 PLOD3 EXON Missense_S483L exm645631 7 100853923 [T/C] NM_001084 PLOD3 EXON Missense_A464T exm645656 7 100855576 [A/G] NM_001084 PLOD3 EXON Missense_P362L exm645660 7 100855624 [A/G] NM_001084 PLOD3 EXON Missense_S346F exm645661 7 100855631 [T/C] NM_001084 PLOD3 EXON Missense_A344T exm645665 7 100855834 [C/G] NM_001084 PLOD3 EXON Missense_V328L exm2134727 7 100855929 [G/C] NM_001084 PLOD3 EXON Missense_P296R exm645683 7 100856416 [A/G] NM_001084 PLOD3 EXON Missense_I250T exm645684 7 100856417 [T/C] NM_001084 PLOD3 EXON Missense_I250V exm645685 7 100856425 [A/G] NM_001084 PLOD3 EXON Missense_T247M exm645690 7 100856462 [A/G] NM_001084 PLOD3 EXON Missense_R235W exm645698 7 100859233 [T/C] NM_001084 PLOD3 EXON Missense_D191N exm645703 7 100859269 [T/C] NM_001084 PLOD3 EXON Missense_I179V exm2274264 7 100859494 [A/G] NM_001084 PLOD3 EXON Missense_A151V exm645717 7 100859694 [T/C] NM_001084 PLOD3 EXON Missense_D112G exm645746 7 100861496 [A/C] NM_006349 ZNHIT1 EXON Nonsense_S7X exm645759 7 100866764 [A/G] NM_006349 ZNHIT1 EXON Missense_K67R exm2274265 7 100877606 [T/C] NM_001185080,NM_014343 CLDN15,CLDN15 EXON Missense_R112K,Missense_R112K exm645816 7 100880799 [A/C] NM_001185080,NM_014343 CLDN15,CLDN15 EXON Missense_V22L,Missense_V22L exm-IND7-100669739 7 100883020 [D/I] NM_016068 FIS1 EXON exm645832 7 100883176 [T/C] NM_016068 FIS1 EXON Missense_V124M exm645836 7 100883449 [T/C] NM_016068 FIS1 EXON Missense_R112Q exm645843 7 100884186 [T/C] NM_016068 FIS1 EXON Synonymous_E60E exm2134802 7 100959764 [T/C] NM_001130821,NM_001130820,NM_001130822,NM_022777 RABL5,RABL5,RABL5,RABL5 EXON Missense_N12S,Missense_N59S,Missense_N12S,Missense_N89S exm645883 7 100961427 [A/G] NM_001130821,NM_001130820,NM_001130822,NM_022777 RABL5,RABL5,RABL5,RABL5 EXON Silent,Silent,Silent,Missense_W62R exm645891 7 100962343 [T/G] NM_001130821,NM_001130820,NM_001130822,NM_022777 RABL5,RABL5,RABL5,RABL5 EXON Silent,Silent,Silent,Silent exm645907 7 101063356 [T/C] NM_133457 COL26A1 EXON Missense_P86L exm2258030 7 101063357 [A/G] NM_133457 COL26A1 EXON Synonymous_P86P exm2266554 7 101091470 [A/G] NM_133457 COL26A1 Silent exm645918 7 101183198 [T/C] NM_133457 COL26A1 EXON Missense_R156W exm645922 7 101183234 [A/G] NM_133457 COL26A1 EXON Missense_E168K exm645923 7 101183244 [T/C] NM_133457 COL26A1 EXON Missense_P171L exm645928 7 101183304 [T/G] NM_133457 COL26A1 EXON Missense_R191L exm645930 7 101183330 [A/G] NM_133457 COL26A1 EXON Missense_G200R exm645948 7 101190442 [A/G] NM_133457 COL26A1 EXON Missense_D286N exm645949 7 101190463 [A/G] NM_133457 COL26A1 EXON Missense_I293V exm645962 7 101194424 [T/C] NM_133457 COL26A1 EXON Synonymous_S341S exm645966 7 101196639 [T/G] NM_133457 COL26A1 EXON Missense_E352D exm645970 7 101199090 [A/G] NM_133457 COL26A1 EXON Missense_R366K exm645978 7 101200715 [A/G] NM_133457 COL26A1 EXON Missense_X408W exm645981 7 101200765 [T/C] NM_133457 COL26A1 EXON Missense_P425L exm645988 7 101256959 [A/G] NM_138403 MYL10 EXON Missense_R189C exm2134843 7 101259504 [T/C] NM_138403 MYL10 EXON Missense_D177N exm2244742 7 101259575 [A/G] NM_138403 MYL10 EXON Missense_T153M exm646000 7 101265477 [T/C] NM_138403 MYL10 EXON Missense_R118H exm646004 7 101266291 [G/C] NM_138403 MYL10 EXON Missense_T112S exm646011 7 101267486 [A/G] NM_138403 MYL10 EXON Missense_M46T exm646018 7 101267529 [A/G] NM_138403 MYL10 EXON Missense_R32W exm2266456 7 101288516 [A/G] exm-rs4729759 7 101536886 [A/G] NM_001202545,NM_001202543,NM_001913,NM_001202544,NM_181500,NM_001202546,NM_181552 CUX1,CUX1,CUX1,CUX1,CUX1,CUX1,CUX1 Silent,Silent,Silent,Silent,Silent,Silent,Silent exm2270657 7 101647143 [T/C] NM_001202545,NM_001202543,NM_001913,NM_001202544,NM_181500,NM_001202546,NM_181552 CUX1,CUX1,CUX1,CUX1,CUX1,CUX1,CUX1 Silent,Silent,Silent,Silent,Silent,Silent,Silent exm646039 7 101713691 [A/G] NM_001202545,NM_001202543,NM_001913,NM_001202544,NM_181500,NM_001202546,NM_181552 CUX1,CUX1,CUX1,CUX1,CUX1,CUX1,CUX1 EXON Missense_V99I,Missense_V99I,Missense_V99I,Missense_V83I,Missense_V99I,Missense_V62I,Missense_V88I exm646054 7 101747681 [A/G] NM_001202545,NM_001202543,NM_001913,NM_001202544,NM_181500,NM_001202546,NM_181552 CUX1,CUX1,CUX1,CUX1,CUX1,CUX1,CUX1 EXON Missense_E123K,Missense_E169K,Missense_E169K,Missense_E153K,Missense_E169K,Missense_E132K,Missense_E158K exm646057 7 101754988 [A/G] NM_001202545,NM_001202543,NM_001913,NM_001202544,NM_181500,NM_001202546,NM_181552 CUX1,CUX1,CUX1,CUX1,CUX1,CUX1,CUX1 EXON Missense_E146K,Missense_E192K,Missense_E192K,Missense_E176K,Missense_E192K,Missense_E155K,Missense_E181K exm646063 7 101758502 [A/G] NM_001202545,NM_001202543,NM_001913,NM_001202544,NM_181500,NM_001202546,NM_181552 CUX1,CUX1,CUX1,CUX1,CUX1,CUX1,CUX1 EXON Missense_R173Q,Missense_R219Q,Missense_R219Q,Missense_R203Q,Missense_R219Q,Missense_R182Q,Missense_R208Q exm646091 7 101821917 [A/G] NM_001202545,NM_001202543,NM_001913,NM_001202544,NM_181500,NM_001202546,NM_181552 CUX1,CUX1,CUX1,CUX1,CUX1,CUX1,CUX1 EXON Missense_A298T,Missense_A344T,Missense_A344T,Missense_A328T,Missense_A342T,Missense_A305T,Missense_A333T exm2134887 7 101840206 [A/G] NM_001202545,NM_001202543,NM_001913,NM_001202544,NM_181500,NM_001202546,NM_181552 CUX1,CUX1,CUX1,CUX1,CUX1,CUX1,CUX1 EXON Silent,Missense_M516I,Silent,Silent,Silent,Silent,Missense_M505I exm646140 7 101844882 [A/G] NM_001202545,NM_001202543,NM_001913,NM_001202544,NM_181500,NM_001202546,NM_181552 CUX1,CUX1,CUX1,CUX1,CUX1,CUX1,CUX1 EXON Silent,Missense_A780T,Silent,Silent,Silent,Silent,Missense_A769T exm646141 7 101844897 [A/G] NM_001202545,NM_001202543,NM_001913,NM_001202544,NM_181500,NM_001202546,NM_181552 CUX1,CUX1,CUX1,CUX1,CUX1,CUX1,CUX1 EXON Silent,Missense_G785S,Silent,Silent,Silent,Silent,Missense_G774S exm646148 7 101844993 [G/C] NM_001202545,NM_001202543,NM_001913,NM_001202544,NM_181500,NM_001202546,NM_181552 CUX1,CUX1,CUX1,CUX1,CUX1,CUX1,CUX1 EXON Silent,Missense_V817L,Silent,Silent,Silent,Silent,Missense_V806L exm646149 7 101844999 [A/G] NM_001202545,NM_001202543,NM_001913,NM_001202544,NM_181500,NM_001202546,NM_181552 CUX1,CUX1,CUX1,CUX1,CUX1,CUX1,CUX1 EXON Silent,Missense_R819G,Silent,Silent,Silent,Silent,Missense_R808G exm646150 7 101845066 [T/C] NM_001202545,NM_001202543,NM_001913,NM_001202544,NM_181500,NM_001202546,NM_181552 CUX1,CUX1,CUX1,CUX1,CUX1,CUX1,CUX1 EXON Silent,Missense_P841L,Silent,Silent,Silent,Silent,Missense_P830L exm646156 7 101845140 [A/G] NM_001202545,NM_001202543,NM_001913,NM_001202544,NM_181500,NM_001202546,NM_181552 CUX1,CUX1,CUX1,CUX1,CUX1,CUX1,CUX1 EXON Silent,Missense_G866S,Silent,Silent,Silent,Silent,Missense_G855S exm646187 7 101848448 [T/C] NM_001202545,NM_001202543,NM_001913,NM_001202544,NM_181500,NM_001202546,NM_181552 CUX1,CUX1,CUX1,CUX1,CUX1,CUX1,CUX1 EXON Silent,Missense_S1054L,Silent,Silent,Silent,Silent,Missense_S1043L exm646193 7 101870764 [T/C] NM_001202545,NM_001202543,NM_001913,NM_001202544,NM_181500,NM_001202546,NM_181552 CUX1,CUX1,CUX1,CUX1,CUX1,CUX1,CUX1 EXON Silent,Missense_A1094V,Silent,Silent,Silent,Silent,Missense_A1083V exm2134913 7 101870884 [C/G] NM_001202545,NM_001202543,NM_001913,NM_001202544,NM_181500,NM_001202546,NM_181552 CUX1,CUX1,CUX1,CUX1,CUX1,CUX1,CUX1 EXON Silent,Missense_S1134C,Silent,Silent,Silent,Silent,Missense_S1123C exm646200 7 101870948 [T/C] NM_001202545,NM_001202543,NM_001913,NM_001202544,NM_181500,NM_001202546,NM_181552 CUX1,CUX1,CUX1,CUX1,CUX1,CUX1,CUX1 EXON Silent,Synonymous_L1155L,Silent,Silent,Silent,Silent,Synonymous_L1144L exm646209 7 101882626 [A/G] NM_001202545,NM_001202543,NM_001913,NM_001202544,NM_181500,NM_001202546,NM_181552 CUX1,CUX1,CUX1,CUX1,CUX1,CUX1,CUX1 EXON Silent,Missense_V1228I,Silent,Silent,Silent,Silent,Missense_V1217I exm646224 7 101891882 [A/G] NM_001202545,NM_001202543,NM_001913,NM_001202544,NM_181500,NM_001202546,NM_181552 CUX1,CUX1,CUX1,CUX1,CUX1,CUX1,CUX1 EXON Silent,Missense_E1371K,Silent,Silent,Silent,Silent,Missense_E1360K exm646239 7 101916681 [A/C] NM_001202545,NM_001913,NM_001202544,NM_181500,NM_001202546 CUX1,CUX1,CUX1,CUX1,CUX1 EXON Missense_T388P,Missense_T434P,Missense_T418P,Missense_T432P,Missense_T395P exm646243 7 101916711 [T/C] NM_001202545,NM_001913,NM_001202544,NM_181500,NM_001202546 CUX1,CUX1,CUX1,CUX1,CUX1 EXON Missense_R398C,Missense_R444C,Missense_R428C,Missense_R442C,Missense_R405C exm646245 7 101917521 [A/G] NM_001202545,NM_001913,NM_001202544,NM_181500,NM_001202546 CUX1,CUX1,CUX1,CUX1,CUX1 EXON Missense_A418T,Missense_A464T,Missense_A448T,Missense_A462T,Missense_A425T exm646247 7 101917530 [T/C] NM_001202545,NM_001913,NM_001202544,NM_181500,NM_001202546 CUX1,CUX1,CUX1,CUX1,CUX1 EXON Missense_R421C,Missense_R467C,Missense_R451C,Missense_R465C,Missense_R428C exm646256 7 101918630 [T/C] NM_001202545,NM_001913,NM_001202544,NM_181500,NM_001202546 CUX1,CUX1,CUX1,CUX1,CUX1 EXON Synonymous_A475A,Synonymous_A521A,Synonymous_A505A,Synonymous_A519A,Synonymous_A482A exm646258 7 101921229 [G/C] NM_001202545,NM_001913,NM_001202544,NM_181500,NM_001202546 CUX1,CUX1,CUX1,CUX1,CUX1 EXON Missense_L479V,Missense_L525V,Missense_L509V,Missense_L523V,Missense_L486V exm646262 7 101921289 [A/G] NM_001202545,NM_001913,NM_001202544,NM_181500,NM_001202546 CUX1,CUX1,CUX1,CUX1,CUX1 EXON Missense_I499V,Missense_I545V,Missense_I529V,Missense_I543V,Missense_I506V exm646263 7 101921292 [A/C] NM_001202545,NM_001913,NM_001202544,NM_181500,NM_001202546 CUX1,CUX1,CUX1,CUX1,CUX1 EXON Missense_K500Q,Missense_K546Q,Missense_K530Q,Missense_K544Q,Missense_K507Q exm646264 7 101921334 [T/C] NM_001202545,NM_001913,NM_001202544,NM_181500,NM_001202546 CUX1,CUX1,CUX1,CUX1,CUX1 EXON Missense_R514W,Missense_R560W,Missense_R544W,Missense_R558W,Missense_R521W exm646265 7 101921335 [A/G] NM_001202545,NM_001913,NM_001202544,NM_181500,NM_001202546 CUX1,CUX1,CUX1,CUX1,CUX1 EXON Missense_R514Q,Missense_R560Q,Missense_R544Q,Missense_R558Q,Missense_R521Q exm646270 7 101923357 [A/G] NM_001202545,NM_001913,NM_001202544,NM_181500,NM_001202546 CUX1,CUX1,CUX1,CUX1,CUX1 EXON Missense_R524Q,Missense_R570Q,Missense_R554Q,Missense_R568Q,Missense_R531Q exm646272 7 101923374 [A/G] NM_001202545,NM_001913,NM_001202544,NM_181500,NM_001202546 CUX1,CUX1,CUX1,CUX1,CUX1 EXON Missense_E530K,Missense_E576K,Missense_E560K,Missense_E574K,Missense_E537K exm646274 7 101923380 [T/C] NM_001202545,NM_001913,NM_001202544,NM_181500,NM_001202546 CUX1,CUX1,CUX1,CUX1,CUX1 EXON Missense_R532C,Missense_R578C,Missense_R562C,Missense_R576C,Missense_R539C exm646276 7 101923411 [A/G] NM_001202545,NM_001913,NM_001202544,NM_181500,NM_001202546 CUX1,CUX1,CUX1,CUX1,CUX1 EXON Missense_R542Q,Missense_R588Q,Missense_R572Q,Missense_R586Q,Missense_R549Q exm646289 7 101926028 [A/G] NM_001202545,NM_001913,NM_001202544,NM_181500,NM_001202546 CUX1,CUX1,CUX1,CUX1,CUX1 EXON Missense_E597K,Missense_E643K,Missense_E627K,Missense_E641K,Missense_E604K exm646305 7 101928495 [G/C] NM_020979 SH2B2 EXON Missense_A16P exm646317 7 101944171 [T/G] NM_020979 SH2B2 EXON Missense_G156C exm646356 7 101957672 [C/G] NM_020979 SH2B2 EXON Missense_D358E exm646374 7 101960923 [T/C] NM_020979 SH2B2 EXON Nonsense_R464X exm646376 7 101960936 [T/C] NM_020979 SH2B2 EXON Missense_S468L exm646405 7 102036866 [A/G] NR_038967,NM_024653 LOC100630923,PRKRIP1 EXON Silent,Missense_S3N exm646408 7 102036877 [T/G] NR_038967,NM_024653 LOC100630923,PRKRIP1 EXON Silent,Missense_S7A exm646420 7 102040094 [A/G] NR_038967,NM_024653 LOC100630923,PRKRIP1 EXON Silent,Missense_K102R exm646422 7 102045078 [A/G] NR_038967,NM_024653 LOC100630923,PRKRIP1 EXON Silent,Missense_E114K exm646447 7 102079446 [C/G] NM_032831,NM_001271819,NM_001126340,NM_001271818 ORAI2,ORAI2,ORAI2,ORAI2 EXON Missense_A15P,Silent,Missense_A15P,Missense_A15P exm646448 7 102079452 [T/C] NM_032831,NM_001271819,NM_001126340,NM_001271818 ORAI2,ORAI2,ORAI2,ORAI2 EXON Missense_P17S,Silent,Missense_P17S,Missense_P17S exm646450 7 102079461 [A/G] NM_032831,NM_001271819,NM_001126340,NM_001271818 ORAI2,ORAI2,ORAI2,ORAI2 EXON Missense_G20S,Silent,Missense_G20S,Missense_G20S exm646498 7 102097966 [C/G] NM_017621 ALKBH4 EXON Missense_E262Q exm646502 7 102098010 [A/G] NM_017621 ALKBH4 EXON Missense_A247V exm646517 7 102098253 [A/C] NM_017621 ALKBH4 EXON Missense_I166S exm646522 7 102098317 [T/G] NM_017621 ALKBH4 EXON Missense_L145M exm646524 7 102098340 [T/C] NM_017621 ALKBH4 EXON Missense_R137Q exm646529 7 102100062 [A/G] NM_017621 ALKBH4 EXON Missense_R104W exm646531 7 102100127 [T/C] NM_017621 ALKBH4 EXON Missense_R82Q exm2258033 7 102100207 [A/G] NM_017621 ALKBH4 EXON Synonymous_A55A exm646540 7 102105207 [G/C] NM_017621 ALKBH4 EXON Missense_C26S exm646542 7 102105234 [T/C] NM_017621 ALKBH4 EXON Missense_C17Y exm646558 7 102106444 [C/G] NM_152892 LRWD1 EXON Missense_L87F exm2135013 7 102106601 [G/C] NM_152892 LRWD1 EXON Missense_V106L exm646573 7 102107850 [A/G] NM_152892 LRWD1 EXON Missense_Q166R exm646580 7 102108170 [A/G] NM_152892 LRWD1 EXON Missense_R193Q exm646584 7 102108235 [A/C] NM_152892 LRWD1 EXON Missense_K215Q exm646586 7 102108263 [A/G] NM_152892 LRWD1 EXON Missense_K224R exm646595 7 102108542 [A/G] NM_152892 LRWD1 EXON Missense_V238I exm646600 7 102108624 [A/C] NM_152892 LRWD1 EXON Missense_D265A exm646609 7 102108740 [G/C] NM_152892 LRWD1 EXON Missense_L279V exm646623 7 102109101 [A/G] NM_152892 LRWD1 EXON Synonymous_E340E exm646633 7 102110065 [A/C] NM_152892 LRWD1 EXON Missense_P425T exm646647 7 102112705 [T/G] NM_152892 LRWD1 EXON Missense_A495S exm646649 7 102112714 [T/C] NM_152892 LRWD1 EXON Missense_R498W exm646650 7 102112715 [A/G] NM_152892 LRWD1 EXON Missense_R498Q exm646657 7 102112956 [T/G] NM_152892 LRWD1 EXON Missense_W530C exm646673 7 102113177 [A/G] NM_152892 LRWD1 EXON Missense_V577M exm646677 7 102113226 [T/C] NM_152892 LRWD1 EXON Missense_P593L exm646688 7 102113373 [C/G] NM_152892 LRWD1 EXON Missense_Q607H exm646824 7 102448760 [T/C] NM_001145269,NR_026879,NM_001145268 FAM185A,FAM185A,FAM185A EXON Missense_R247C,Silent,Missense_R364C exm646825 7 102448819 [T/G] NM_001145269,NR_026879,NM_001145268 FAM185A,FAM185A,FAM185A EXON Missense_S266R,Silent,Missense_S383R exm646836 7 102453914 [A/G] NM_001111038,NM_145032 FBXL13,FBXL13 EXON Missense_R650C,Missense_R695C exm646838 7 102462524 [A/G] NM_001111038,NM_145032 FBXL13,FBXL13 EXON Missense_R616W,Missense_R661W exm2135124 7 102462538 [A/C] NM_001111038,NM_145032 FBXL13,FBXL13 EXON Missense_G611V,Missense_G656V exm646848 7 102495249 [T/C] NM_001111038,NM_145032 FBXL13,FBXL13 EXON Missense_Y565C,Missense_Y565C exm646852 7 102517946 [T/C] NM_001111038,NM_145032 FBXL13,FBXL13 EXON Missense_I535V,Missense_I535V exm646856 7 102518808 [A/C] NM_001111038,NM_145032 FBXL13,FBXL13 EXON Missense_S493I,Missense_S493I exm646857 7 102518815 [A/G] NM_001111038,NM_145032 FBXL13,FBXL13 EXON Missense_R491W,Missense_R491W exm646860 7 102518869 [T/G] NM_001111038,NM_145032 FBXL13,FBXL13 EXON Missense_L473I,Missense_L473I exm646868 7 102524110 [T/C] NM_001111038,NM_145032 FBXL13,FBXL13 EXON Missense_R377H,Missense_R377H exm646877 7 102553603 [C/G] NM_001111038,NM_145032,NM_005824,NM_001031692 FBXL13,FBXL13,LRRC17,LRRC17 EXON Missense_G313A,Missense_G313A,Silent,Silent exm646886 7 102572363 [A/G] NM_001111038,NM_145032,NM_005824,NM_001031692 FBXL13,FBXL13,LRRC17,LRRC17 EXON Nonsense_Q248X,Nonsense_Q248X,Silent,Silent exm646894 7 102574453 [T/G] NM_001111038,NM_145032,NM_005824,NM_001031692 FBXL13,FBXL13,LRRC17,LRRC17 EXON Silent,Silent,Missense_N31K,Missense_N31K exm646904 7 102574618 [A/G] NM_001111038,NM_145032,NM_005824,NM_001031692 FBXL13,FBXL13,LRRC17,LRRC17 EXON Silent,Silent,Missense_M86I,Missense_M86I exm646907 7 102574644 [T/C] NM_001111038,NM_145032,NM_005824,NM_001031692 FBXL13,FBXL13,LRRC17,LRRC17 EXON Silent,Silent,Missense_T95I,Missense_T95I exm646909 7 102574655 [A/G] NM_001111038,NM_145032,NM_005824,NM_001031692 FBXL13,FBXL13,LRRC17,LRRC17 EXON Silent,Silent,Missense_N99D,Missense_N99D exm646910 7 102574715 [A/G] NM_001111038,NM_145032,NM_005824,NM_001031692 FBXL13,FBXL13,LRRC17,LRRC17 EXON Silent,Silent,Missense_K119E,Missense_K119E exm646913 7 102574910 [T/C] NM_001111038,NM_145032,NM_005824,NM_001031692 FBXL13,FBXL13,LRRC17,LRRC17 EXON Silent,Silent,Missense_R184W,Missense_R184W exm646914 7 102574911 [A/G] NM_001111038,NM_145032,NM_005824,NM_001031692 FBXL13,FBXL13,LRRC17,LRRC17 EXON Silent,Silent,Missense_R184Q,Missense_R184Q exm646915 7 102574920 [G/C] NM_001111038,NM_145032,NM_005824,NM_001031692 FBXL13,FBXL13,LRRC17,LRRC17 EXON Silent,Silent,Missense_G187A,Missense_G187A exm646924 7 102575018 [A/T] NM_001111038,NM_145032,NM_005824,NM_001031692 FBXL13,FBXL13,LRRC17,LRRC17 EXON Silent,Silent,Missense_L220M,Missense_L220M exm646935 7 102580029 [A/C] NM_001111038,NM_145032,NM_005824,NM_001031692 FBXL13,FBXL13,LRRC17,LRRC17 EXON Silent,Silent,Missense_P309T,Missense_P309T exm646952 7 102604012 [G/C] NM_001111038,NM_145032 FBXL13,FBXL13 EXON Missense_C231S,Missense_C231S exm646953 7 102604030 [T/C] NM_001111038,NM_145032 FBXL13,FBXL13 EXON Missense_R225H,Missense_R225H exm646954 7 102604037 [T/C] NM_001111038,NM_145032 FBXL13,FBXL13 EXON Missense_V223M,Missense_V223M exm646955 7 102604045 [T/C] NM_001111038,NM_145032 FBXL13,FBXL13 EXON Missense_R220H,Missense_R220H exm2266457 7 102632247 [A/G] NM_001111038,NM_145032 FBXL13,FBXL13 Silent,Silent exm646991 7 102665571 [A/G] NM_001111038,NM_145032 FBXL13,FBXL13 EXON Missense_F145S,Missense_F145S exm646994 7 102665601 [T/C] NM_001111038,NM_145032 FBXL13,FBXL13 EXON Missense_N135S,Missense_N135S exm646995 7 102665620 [G/C] NM_001111038,NM_145032 FBXL13,FBXL13 EXON Missense_A129P,Missense_A129P exm2135183 7 102667939 [T/C] NM_001111038,NM_145032 FBXL13,FBXL13 EXON Missense_R95Q,Missense_R95Q exm2274266 7 102667940 [A/G] NM_001111038,NM_145032 FBXL13,FBXL13 EXON Missense_R95W,Missense_R95W exm647003 7 102668001 [A/C] NM_001111038,NM_145032 FBXL13,FBXL13 EXON Missense_I74M,Missense_I74M exm647006 7 102669158 [T/C] NM_001111038,NM_145032 FBXL13,FBXL13 EXON Missense_V36I,Missense_V36I exm647007 7 102669175 [T/C] NM_001111038,NM_145032 FBXL13,FBXL13 EXON Missense_R30H,Missense_R30H exm647019 7 102716226 [T/G] NM_031905,NM_001161011,NM_001161012,NM_001161013,NM_001161010,NM_001161009 ARMC10,ARMC10,ARMC10,ARMC10,ARMC10,ARMC10 EXON Missense_A48S,Silent,Silent,Silent,Missense_A48S,Silent exm647026 7 102716284 [T/C] NM_031905,NM_001161011,NM_001161012,NM_001161013,NM_001161010,NM_001161009 ARMC10,ARMC10,ARMC10,ARMC10,ARMC10,ARMC10 EXON Missense_T67M,Silent,Silent,Silent,Missense_T67M,Silent exm647030 7 102724164 [A/C] NM_031905,NM_001161011,NM_001161012,NM_001161013,NM_001161010,NM_001161009 ARMC10,ARMC10,ARMC10,ARMC10,ARMC10,ARMC10 EXON Missense_N94H,Missense_N59H,Missense_N59H,Missense_N59H,Missense_N94H,Missense_N59H exm647041 7 102727132 [T/C] NM_031905,NM_001161011,NM_001161012,NM_001161013,NM_001161010,NM_001161009 ARMC10,ARMC10,ARMC10,ARMC10,ARMC10,ARMC10 EXON Missense_S150F,Missense_S115F,Missense_S115F,Missense_S115F,Missense_S150F,Missense_S115F exm647047 7 102732933 [A/G] NM_031905,NM_001161011,NM_001161012,NM_001161013,NM_001161010,NM_001161009 ARMC10,ARMC10,ARMC10,ARMC10,ARMC10,ARMC10 EXON Missense_S180G,Missense_S145G,Silent,Silent,Silent,Missense_S145G exm647055 7 102733083 [A/G] NM_031905,NM_001161011,NM_001161012,NM_001161013,NM_001161010,NM_001161009 ARMC10,ARMC10,ARMC10,ARMC10,ARMC10,ARMC10 EXON Missense_G230R,Missense_G195R,Silent,Silent,Silent,Missense_G195R exm647076 7 102743893 [T/C] NM_001122838,NM_198990 NAPEPLD,NAPEPLD EXON Missense_D389N,Missense_D389N exm647082 7 102755545 [T/C] NM_001122838,NM_198990 NAPEPLD,NAPEPLD EXON Missense_M340V,Missense_M340V exm647092 7 102760300 [T/C] NM_001122838,NM_198990 NAPEPLD,NAPEPLD EXON Missense_C222Y,Missense_C222Y exm647094 7 102760360 [T/C] NM_001122838,NM_198990 NAPEPLD,NAPEPLD EXON Missense_R202Q,Missense_R202Q exm647097 7 102760465 [T/C] NM_001122838,NM_198990 NAPEPLD,NAPEPLD EXON Missense_R167H,Missense_R167H exm647100 7 102760507 [T/C] NM_001122838,NM_198990 NAPEPLD,NAPEPLD EXON Missense_R153H,Missense_R153H exm647101 7 102760511 [A/C] NM_001122838,NM_198990 NAPEPLD,NAPEPLD EXON Missense_S152A,Missense_S152A exm2275966 7 102769138 [C/G] NM_001122838,NM_198990 NAPEPLD,NAPEPLD EXON Missense_R29P,Missense_R29P exm647135 7 102937914 [T/C] NM_004279 PMPCB EXON Missense_A3V exm647137 7 102937934 [T/G] NM_004279 PMPCB EXON Missense_L10V exm647149 7 102939082 [G/C] NM_004279 PMPCB EXON Missense_P56R exm647152 7 102939127 [T/C] NM_004279 PMPCB EXON Missense_S71L exm647156 7 102940652 [A/C] NM_004279 PMPCB EXON Missense_L119M exm647161 7 102940675 [A/G] NM_004279 PMPCB EXON Missense_M126I exm647172 7 102944355 [A/G] NM_004279 PMPCB EXON Missense_R175H exm2258038 7 102944359 [T/A] NM_004279 PMPCB EXON Synonymous_G176G exm647177 7 102944457 [A/G] NM_004279 PMPCB EXON Missense_R209Q exm647184 7 102948144 [A/T] NM_004279 PMPCB EXON Missense_T280S exm647188 7 102949430 [T/C] NM_004279 PMPCB EXON Missense_A294V exm647190 7 102949484 [A/G] NM_004279 PMPCB EXON Missense_C312Y exm2135259 7 102950891 [A/G] NM_004279 PMPCB EXON Missense_A375T exm647210 7 102952123 [T/G] NM_004279 PMPCB EXON Missense_E396D exm647216 7 102952509 [A/G] NM_004279 PMPCB EXON Missense_N446D exm647221 7 102952710 [T/C] NM_004279 PMPCB EXON Missense_R488C exm647226 7 102953539 [G/C] NM_004279,NM_014377,NM_001129887 PMPCB,DNAJC2,DNAJC2 EXON Silent,Missense_T549R,Missense_T496R exm647244 7 102957374 [T/C] NM_014377,NM_001129887 DNAJC2,DNAJC2 EXON Missense_T444A,Missense_T391A exm647246 7 102957397 [C/G] NM_014377,NM_001129887 DNAJC2,DNAJC2 EXON Missense_A436G,Missense_A383G exm647251 7 102960270 [T/C] NM_014377,NM_001129887 DNAJC2,DNAJC2 EXON Missense_N369D,Silent exm647275 7 102982258 [A/T] NM_014377,NM_001129887 DNAJC2,DNAJC2 EXON Missense_L70M,Missense_L70M exm647279 7 102982386 [T/C] NM_014377,NM_001129887 DNAJC2,DNAJC2 EXON Missense_Q27R,Missense_Q27R exm647327 7 103014869 [T/G] NM_206883,NM_206884,NM_206885,NM_198999,NM_001167962 SLC26A5,SLC26A5,SLC26A5,SLC26A5,SLC26A5 EXON Silent,Silent,Silent,Missense_T738P,Missense_T706P exm647337 7 103017288 [T/C] NM_206883,NM_206884,NM_206885,NM_198999,NM_001167962 SLC26A5,SLC26A5,SLC26A5,SLC26A5,SLC26A5 EXON Missense_V670I,Silent,Silent,Missense_V670I,Missense_V638I exm647338 7 103017309 [T/C] NM_206883,NM_206884,NM_206885,NM_198999,NM_001167962 SLC26A5,SLC26A5,SLC26A5,SLC26A5,SLC26A5 EXON Missense_I663V,Silent,Silent,Missense_I663V,Missense_I631V exm647341 7 103018088 [T/G] NM_206883,NM_206884,NM_206885,NM_198999,NM_001167962 SLC26A5,SLC26A5,SLC26A5,SLC26A5,SLC26A5 EXON Missense_Q648H,Silent,Silent,Missense_Q648H,Missense_Q616H exm647348 7 103018219 [T/C] NM_206883,NM_206884,NM_206885,NM_198999,NM_001167962 SLC26A5,SLC26A5,SLC26A5,SLC26A5,SLC26A5 EXON Missense_T605A,Silent,Silent,Missense_T605A,Missense_T573A exm647349 7 103018979 [T/C] NM_206883,NM_206884,NM_206885,NM_198999,NM_001167962 SLC26A5,SLC26A5,SLC26A5,SLC26A5,SLC26A5 EXON Missense_I567V,Silent,Silent,Missense_I567V,Missense_I535V exm647356 7 103029560 [T/G] NM_206883,NM_206884,NM_206885,NM_198999,NM_001167962 SLC26A5,SLC26A5,SLC26A5,SLC26A5,SLC26A5 EXON Missense_T470N,Missense_T470N,Silent,Missense_T470N,Missense_T438N exm647366 7 103030928 [A/G] NM_206883,NM_206884,NM_206885,NM_198999,NM_001167962 SLC26A5,SLC26A5,SLC26A5,SLC26A5,SLC26A5 EXON Missense_M420T,Missense_M420T,Silent,Missense_M420T,Missense_M420T exm647398 7 103053559 [A/C] NM_206883,NM_206884,NM_206885,NM_198999,NM_001167962 SLC26A5,SLC26A5,SLC26A5,SLC26A5,SLC26A5 EXON Missense_G98V,Missense_G98V,Missense_G98V,Missense_G98V,Missense_G98V exm647402 7 103061810 [A/G] NM_206883,NM_206884,NM_206885,NM_198999,NM_001167962 SLC26A5,SLC26A5,SLC26A5,SLC26A5,SLC26A5 EXON Missense_T51I,Missense_T51I,Missense_T51I,Missense_T51I,Missense_T51I exm647403 7 103061825 [A/G] NM_206883,NM_206884,NM_206885,NM_198999,NM_001167962 SLC26A5,SLC26A5,SLC26A5,SLC26A5,SLC26A5 EXON Missense_L46P,Missense_L46P,Missense_L46P,Missense_L46P,Missense_L46P exm2244769 7 103062016 [T/C] NM_206883,NM_206884,NM_206885,NM_198999,NM_001167962 SLC26A5,SLC26A5,SLC26A5,SLC26A5,SLC26A5 Silent,Silent,Silent,Silent,Silent exm647411 7 103113320 [T/C] NM_173054,NM_005045 RELN,RELN EXON Missense_R3439Q,Missense_R3441Q exm647416 7 103123324 [T/C] NM_173054,NM_005045 RELN,RELN EXON Missense_V3426I,Missense_V3426I exm647421 7 103124188 [T/C] NM_173054,NM_005045 RELN,RELN EXON Missense_V3365I,Missense_V3365I exm647439 7 103130222 [T/C] NM_173054,NM_005045 RELN,RELN EXON Missense_G3244S,Missense_G3244S exm647451 7 103131196 [T/G] NM_173054,NM_005045 RELN,RELN EXON Missense_H3175P,Missense_H3175P exm647462 7 103136199 [T/C] NM_173054,NM_005045 RELN,RELN EXON Missense_I3114V,Missense_I3114V exm2135380 7 103138354 [A/G] NM_173054,NM_005045 RELN,RELN EXON Missense_R2955C,Missense_R2955C exm647476 7 103138569 [A/G] NM_173054,NM_005045 RELN,RELN EXON Missense_T2933I,Missense_T2933I exm647477 7 103138572 [T/G] NM_173054,NM_005045 RELN,RELN EXON Missense_S2932Y,Missense_S2932Y exm647499 7 103151360 [A/G] NM_173054,NM_005045 RELN,RELN EXON Missense_R2738W,Missense_R2738W exm647506 7 103155665 [T/C] NM_173054,NM_005045 RELN,RELN EXON Missense_A2696T,Missense_A2696T exm647509 7 103155683 [T/C] NM_173054,NM_005045 RELN,RELN EXON Missense_G2690S,Missense_G2690S exm647526 7 103159875 [A/G] NM_173054,NM_005045 RELN,RELN EXON Missense_T2586I,Missense_T2586I exm2135408 7 103159939 [T/C] NM_173054,NM_005045 RELN,RELN EXON Missense_V2565M,Missense_V2565M exm647530 7 103162503 [A/G] NM_173054,NM_005045 RELN,RELN EXON Missense_A2545V,Missense_A2545V exm647535 7 103162599 [C/G] NM_173054,NM_005045 RELN,RELN EXON Missense_S2513C,Missense_S2513C exm647539 7 103163890 [T/C] NM_173054,NM_005045 RELN,RELN EXON Missense_G2480S,Missense_G2480S exm647548 7 103175844 [T/C] NM_173054,NM_005045 RELN,RELN EXON Missense_R2423H,Missense_R2423H exm647552 7 103179591 [T/C] NM_173054,NM_005045 RELN,RELN EXON Missense_V2372M,Missense_V2372M exm647553 7 103179594 [T/C] NM_173054,NM_005045 RELN,RELN EXON Missense_A2371T,Missense_A2371T exm647562 7 103179743 [A/G] NM_173054,NM_005045 RELN,RELN EXON Missense_T2321M,Missense_T2321M exm647566 7 103180649 [T/C] NM_173054,NM_005045 RELN,RELN EXON Missense_D2309N,Missense_D2309N exm647574 7 103180848 [C/G] NM_173054,NM_005045 RELN,RELN EXON Missense_R2242S,Missense_R2242S exm647579 7 103183202 [T/C] NM_173054,NM_005045 RELN,RELN EXON Missense_R2216Q,Missense_R2216Q exm647582 7 103185574 [T/C] NM_173054,NM_005045 RELN,RELN EXON Missense_E2174K,Missense_E2174K exm647585 7 103185636 [T/C] NM_173054,NM_005045 RELN,RELN EXON Missense_G2153D,Missense_G2153D exm647586 7 103185751 [T/C] NM_173054,NM_005045 RELN,RELN EXON Missense_G2115S,Missense_G2115S exm647592 7 103191623 [T/C] NM_173054,NM_005045 RELN,RELN EXON Missense_V2065I,Missense_V2065I exm647595 7 103191650 [A/G] NM_173054,NM_005045 RELN,RELN EXON Missense_P2056S,Missense_P2056S exm647603 7 103194115 [A/C] NM_173054,NM_005045 RELN,RELN EXON Missense_K1987N,Missense_K1987N exm647607 7 103194153 [T/C] NM_173054,NM_005045 RELN,RELN EXON Missense_G1975S,Missense_G1975S exm647614 7 103194245 [A/C] NM_173054,NM_005045 RELN,RELN EXON Missense_F1944C,Missense_F1944C exm647616 7 103197425 [A/G] NM_173054,NM_005045 RELN,RELN EXON Synonymous_N1932N,Synonymous_N1932N exm647621 7 103197510 [A/G] NM_173054,NM_005045 RELN,RELN EXON Missense_T1904M,Missense_T1904M exm647626 7 103197603 [A/G] NM_173054,NM_005045 RELN,RELN EXON Missense_T1873I,Missense_T1873I exm647638 7 103202267 [A/G] NM_173054,NM_005045 RELN,RELN EXON Missense_R1782C,Missense_R1782C exm647640 7 103202327 [T/C] NM_173054,NM_005045 RELN,RELN EXON Missense_V1762I,Missense_V1762I exm647645 7 103205735 [C/G] NM_173054,NM_005045 RELN,RELN EXON Missense_L1734V,Missense_L1734V exm647648 7 103205779 [A/G] NM_173054,NM_005045 RELN,RELN EXON Missense_S1719L,Missense_S1719L exm647653 7 103205827 [C/G] NM_173054,NM_005045 RELN,RELN EXON Missense_P1703R,Missense_P1703R exm647654 7 103205840 [T/C] NM_173054,NM_005045 RELN,RELN EXON Missense_E1699K,Missense_E1699K exm647665 7 103206714 [G/C] NM_173054,NM_005045 RELN,RELN EXON Missense_D1631E,Missense_D1631E exm647670 7 103207075 [T/C] NM_173054,NM_005045 RELN,RELN EXON Missense_A1574T,Missense_A1574T exm2258039 7 103207234 [T/C] NM_173054,NM_005045 RELN,RELN Silent,Silent exm647686 7 103214593 [T/C] NM_173054,NM_005045 RELN,RELN EXON Missense_N1486S,Missense_N1486S exm647689 7 103214642 [T/C] NM_173054,NM_005045 RELN,RELN EXON Missense_V1470I,Missense_V1470I exm647690 7 103214653 [A/G] NM_173054,NM_005045 RELN,RELN EXON Missense_T1466I,Missense_T1466I exm647694 7 103214713 [T/C] NM_173054,NM_005045 RELN,RELN EXON Missense_N1446S,Missense_N1446S exm647709 7 103234202 [T/C] NM_173054,NM_005045 RELN,RELN EXON Missense_G1280E,Missense_G1280E exm647712 7 103234329 [T/G] NM_173054,NM_005045 RELN,RELN EXON Missense_N1238H,Missense_N1238H exm647714 7 103234782 [T/G] NM_173054,NM_005045 RELN,RELN EXON Missense_P1233T,Missense_P1233T exm647717 7 103234828 [C/G] NM_173054,NM_005045 RELN,RELN EXON Missense_I1217M,Missense_I1217M exm647723 7 103236965 [T/G] NM_173054,NM_005045 RELN,RELN EXON Missense_N1159K,Missense_N1159K exm647724 7 103236966 [T/C] NM_173054,NM_005045 RELN,RELN EXON Missense_N1159S,Missense_N1159S exm647725 7 103236985 [T/C] NM_173054,NM_005045 RELN,RELN EXON Missense_V1153I,Missense_V1153I exm647726 7 103237018 [T/A] NM_173054,NM_005045 RELN,RELN EXON Missense_S1142T,Missense_S1142T exm2244772 7 103243894 [T/C] NM_173054,NM_005045 RELN,RELN EXON Missense_A1064T,Missense_A1064T exm647742 7 103251161 [C/G] NM_173054,NM_005045 RELN,RELN EXON Missense_L997V,Missense_L997V exm647743 7 103251196 [G/C] NM_173054,NM_005045 RELN,RELN EXON Missense_A985G,Missense_A985G exm647745 7 103251218 [T/C] NM_173054,NM_005045 RELN,RELN EXON Missense_T978A,Missense_T978A exm647748 7 103252126 [A/G] NM_173054,NM_005045 RELN,RELN EXON Missense_H943Y,Missense_H943Y exm647756 7 103275891 [A/G] NM_173054,NM_005045 RELN,RELN EXON Missense_L816F,Missense_L816F exm2135493 7 103276733 [T/G] NM_173054,NM_005045 RELN,RELN EXON Missense_K751T,Missense_K751T exm647765 7 103281044 [A/G] NM_173054,NM_005045 RELN,RELN EXON Missense_P672L,Missense_P672L exm647774 7 103292112 [T/G] NM_173054,NM_005045 RELN,RELN EXON Missense_S630R,Missense_S630R exm647794 7 103294611 [T/C] NM_173054,NM_005045 RELN,RELN EXON Missense_I495V,Missense_I495V exm647802 7 103301928 [C/G] NM_173054,NM_005045 RELN,RELN EXON Missense_E446Q,Missense_E446Q exm647804 7 103322621 [T/G] NM_173054,NM_005045 RELN,RELN EXON Missense_L411I,Missense_L411I exm647808 7 103338335 [G/C] NM_173054,NM_005045 RELN,RELN EXON Missense_G370R,Missense_G370R exm647811 7 103338368 [T/C] NM_173054,NM_005045 RELN,RELN EXON Missense_V359I,Missense_V359I exm647814 7 103338430 [A/C] NM_173054,NM_005045 RELN,RELN EXON Missense_V338G,Missense_V338G exm647815 7 103338442 [T/C] NM_173054,NM_005045 RELN,RELN EXON Missense_R334H,Missense_R334H exm2258040 7 103338468 [T/C] NM_173054,NM_005045 RELN,RELN EXON Synonymous_Q325Q,Synonymous_Q325Q exm647822 7 103341382 [T/C] NM_173054,NM_005045 RELN,RELN EXON Missense_D293N,Missense_D293N exm647840 7 103393630 [T/C] NM_173054,NM_005045 RELN,RELN EXON Synonymous_L192L,Synonymous_L192L exm647846 7 103474041 [G/C] NM_173054,NM_005045 RELN,RELN EXON Missense_T139S,Missense_T139S exm-rs3914132 7 103527369 [T/C] NM_173054,NM_005045 RELN,RELN Silent,Silent exm-rs4298437 7 103625877 [T/C] NM_173054,NM_005045 RELN,RELN Silent,Silent exm-rs17157903 7 103628036 [T/C] NM_173054,NM_005045 RELN,RELN Silent,Silent exm647853 7 103629665 [T/C] NM_173054,NM_005045 RELN,RELN EXON Missense_E47K,Missense_E47K exm647856 7 103629727 [A/G] NM_173054,NM_005045 RELN,RELN EXON Missense_A26V,Missense_A26V exm2266556 7 103681973 [A/G] exm-rs4727586 7 103706936 [T/C] exm647865 7 103767338 [A/G] NM_002553 ORC5 EXON Missense_T422M exm647871 7 103777292 [T/C] NM_002553 ORC5 EXON Missense_D400N exm2135557 7 103777294 [T/G] NM_002553 ORC5 EXON Missense_D399A exm647873 7 103801533 [T/C] NM_002553 ORC5 EXON Missense_N379S exm647878 7 103805693 [T/A] NM_002553 ORC5 EXON Missense_K343I exm647881 7 103807299 [T/C] NM_002553 ORC5 EXON Missense_Y304C exm647882 7 103807312 [A/C] NM_002553 ORC5 EXON Missense_V300L exm647893 7 103824398 [T/C] NM_002553,NM_181747 ORC5,ORC5 EXON Missense_I273V,Missense_I273V exm2244777 7 103824604 [A/G] NM_002553,NM_181747 ORC5,ORC5 EXON Missense_P234S,Missense_P234S exm647908 7 103828802 [T/C] NM_002553,NM_181747 ORC5,ORC5 EXON Missense_D194G,Missense_D194G exm647933 7 103841400 [A/G] NM_002553,NM_181747 ORC5,ORC5 EXON Missense_H58Y,Missense_H58Y exm647938 7 103844599 [T/A] NM_002553,NM_181747 ORC5,ORC5 EXON Missense_K52N,Missense_K52N exm647943 7 103848322 [A/G] NM_002553,NM_181747 ORC5,ORC5 EXON Missense_R11C,Missense_R11C exm647957 7 103969537 [T/G] NM_199000 LHFPL3 EXON Missense_A104S exm2264267 7 104078657 [A/C] NM_199000 LHFPL3 Silent exm2270660 7 104143381 [T/G] NM_199000 LHFPL3 Silent exm2270661 7 104326251 [T/G] NM_199000 LHFPL3 Silent exm-rs10953454 7 104503813 [A/G] NM_199000 LHFPL3 Silent exm2258043 7 104681441 [A/G] NM_018682,NM_182931 MLL5,MLL5 EXON Synonymous_T14T,Synonymous_T14T exm647994 7 104707174 [T/C] NM_018682,NM_182931 MLL5,MLL5 EXON Synonymous_S139S,Synonymous_S139S exm648008 7 104715245 [T/A] NM_018682,NM_182931 MLL5,MLL5 EXON Missense_I238F,Missense_I238F exm648015 7 104717411 [A/G] NM_018682,NM_182931 MLL5,MLL5 EXON Missense_G257D,Missense_G257D exm2258044 7 104717412 [T/C] NM_018682,NM_182931 MLL5,MLL5 EXON Synonymous_G257G,Synonymous_G257G exm2135635 7 104717587 [T/A] NM_018682,NM_182931 MLL5,MLL5 EXON Missense_M316L,Missense_M316L exm648045 7 104730657 [A/G] NM_018682,NM_182931 MLL5,MLL5 EXON Missense_M520I,Missense_M520I exm2135657 7 104746112 [A/C] NM_018682,NM_182931 MLL5,MLL5 EXON Missense_T808N,Missense_T808N exm648076 7 104747073 [A/T] NM_018682,NM_182931 MLL5,MLL5 EXON Missense_T901S,Missense_T901S exm648080 7 104747094 [T/C] NM_018682,NM_182931 MLL5,MLL5 EXON Missense_P908S,Missense_P908S exm648086 7 104747899 [T/G] NM_018682,NM_182931 MLL5,MLL5 EXON Missense_G999C,Missense_G999C exm648096 7 104748092 [T/C] NM_018682,NM_182931 MLL5,MLL5 EXON Missense_M1063T,Missense_M1063T exm648109 7 104749474 [T/C] NM_018682,NM_182931 MLL5,MLL5 EXON Missense_S1185L,Missense_S1185L exm648113 7 104749504 [A/G] NM_018682,NM_182931 MLL5,MLL5 EXON Missense_N1195S,Missense_N1195S exm648130 7 104751220 [T/C] NM_018682,NM_182931 MLL5,MLL5 EXON Missense_P1325S,Missense_P1325S exm648142 7 104752385 [C/G] NM_018682,NM_182931 MLL5,MLL5 EXON Missense_H1394Q,Missense_H1394Q exm648144 7 104752423 [A/G] NM_018682,NM_182931 MLL5,MLL5 EXON Missense_N1407S,Missense_N1407S exm648146 7 104752468 [A/G] NM_018682,NM_182931 MLL5,MLL5 EXON Missense_R1422H,Missense_R1422H exm648147 7 104752473 [T/C] NM_018682,NM_182931 MLL5,MLL5 EXON Missense_S1424P,Missense_S1424P exm648157 7 104752798 [A/G] NM_018682,NM_182931 MLL5,MLL5 EXON Missense_S1532N,Missense_S1532N exm648167 7 104753188 [T/C] NM_018682,NM_182931 MLL5,MLL5 EXON Missense_V1662A,Missense_V1662A exm648183 7 104753500 [T/C] NM_018682,NM_182931 MLL5,MLL5 EXON Missense_T1766I,Missense_T1766I exm648185 7 104753553 [T/C] NM_018682,NM_182931 MLL5,MLL5 EXON Missense_P1784S,Missense_P1784S exm648219 7 104782508 [A/G] NM_182691,NM_182692 SRPK2,SRPK2 EXON Missense_S486F,Missense_S497F exm648224 7 104782689 [T/G] NM_182691,NM_182692 SRPK2,SRPK2 EXON Missense_T426P,Missense_T437P exm648242 7 104785735 [T/G] NM_182691,NM_182692 SRPK2,SRPK2 EXON Missense_K259Q,Missense_K270Q exm648287 7 105098241 [T/C] NM_019042 PUS7 EXON Missense_R661H exm648324 7 105135650 [T/C] NM_019042 PUS7 EXON Missense_V261I exm648339 7 105148593 [A/G] NM_019042 PUS7 EXON Missense_H123Y exm2275967 7 105148681 [A/G] NM_019042 PUS7 EXON Synonymous_C93C exm648344 7 105148683 [A/G] NM_019042 PUS7 EXON Missense_C93R exm648351 7 105148835 [T/C] NM_019042 PUS7 EXON Missense_K42R exm648360 7 105172803 [T/C] NM_021930 RINT1 EXON Missense_P14L exm648362 7 105177041 [A/T] NM_021930 RINT1 EXON Missense_S40C exm648370 7 105182957 [T/C] NM_021930 RINT1 EXON Missense_H126Y exm648371 7 105182969 [A/G] NM_021930 RINT1 EXON Missense_A130T exm648373 7 105182994 [T/C] NM_021930 RINT1 EXON Missense_A138V exm648376 7 105183011 [A/G] NM_021930 RINT1 EXON Missense_D144N exm648379 7 105187373 [T/C] NM_021930 RINT1 EXON Missense_Y178H exm648388 7 105187723 [T/C] NM_021930 RINT1 EXON Missense_P261L exm648402 7 105190530 [T/C] NM_021930 RINT1 EXON Missense_M342T exm648410 7 105190917 [C/G] NM_021930 RINT1 EXON Missense_L439F exm648427 7 105204348 [A/G] NM_021930 RINT1 EXON Missense_V614I exm648437 7 105205815 [A/C] NM_021930,NR_027068 RINT1,EFCAB10 EXON Missense_L660I,Silent exm648438 7 105205822 [T/C] NM_021930,NR_027068 RINT1,EFCAB10 EXON Missense_L662S,Silent exm648439 7 105205840 [T/C] NM_021930,NR_027068 RINT1,EFCAB10 EXON Missense_F668S,Silent exm648443 7 105205977 [A/G] NM_021930,NR_027068 RINT1,EFCAB10 EXON Missense_I690V,Silent exm648446 7 105206068 [A/G] NM_021930,NR_027068 RINT1,EFCAB10 EXON Missense_C720Y,Silent exm648452 7 105207655 [T/C] NM_021930,NR_027068 RINT1,EFCAB10 EXON Missense_P759L,Silent exm648456 7 105250980 [T/C] NM_020725,NM_138495 ATXN7L1,ATXN7L1 EXON Missense_R848Q,Missense_R724Q exm648463 7 105254382 [T/C] NM_020725,NM_138495 ATXN7L1,ATXN7L1 EXON Missense_S800N,Missense_S676N exm648468 7 105254503 [A/C] NM_020725,NM_138495 ATXN7L1,ATXN7L1 EXON Missense_A760S,Missense_A636S exm2244792 7 105260704 [T/C] NM_020725,NM_138495 ATXN7L1,ATXN7L1 EXON Missense_R487H,Missense_R363H exm2135806 7 105264544 [A/G] NM_020725,NM_138495 ATXN7L1,ATXN7L1 EXON Missense_T458M,Missense_T334M exm648484 7 105264695 [T/C] NM_020725,NM_138495 ATXN7L1,ATXN7L1 EXON Missense_I408V,Missense_I284V exm2244793 7 105278933 [A/G] NM_020725,NM_138495 ATXN7L1,ATXN7L1 EXON Missense_S357P,Missense_S233P exm2258046 7 105280270 [T/C] NM_020725,NM_138495 ATXN7L1,ATXN7L1 Silent,Silent exm648491 7 105283493 [T/G] NM_020725,NM_138495 ATXN7L1,ATXN7L1 EXON Missense_N218K,Missense_N94K exm648494 7 105305600 [A/G] NM_020725,NM_138495 ATXN7L1,ATXN7L1 EXON Missense_P164L,Missense_P40L exm648504 7 105429051 [A/G] NM_020725,NM_152749 ATXN7L1,ATXN7L1 EXON Synonymous_C118C,Synonymous_C118C exm648505 7 105429058 [A/G] NM_020725,NM_152749 ATXN7L1,ATXN7L1 EXON Missense_S116L,Missense_S116L exm648507 7 105429087 [G/C] NM_020725,NM_152749 ATXN7L1,ATXN7L1 EXON Missense_N106K,Missense_N106K exm648541 7 105603809 [A/G] NM_152750 CDHR3 EXON Synonymous_S15S exm648542 7 105615326 [T/C] NM_152750 CDHR3 EXON Missense_T28I exm648544 7 105615349 [T/C] NM_152750 CDHR3 EXON Missense_P36S exm648546 7 105615406 [A/G] NM_152750 CDHR3 EXON Missense_V55M exm648547 7 105615426 [G/C] NM_152750 CDHR3 EXON Missense_Q61H exm648552 7 105621462 [A/G] NM_152750 CDHR3 EXON Missense_I100V exm2135820 7 105624719 [A/G] NM_152750 CDHR3 EXON Missense_R166Q exm648568 7 105635285 [A/G] NM_152750 CDHR3 EXON Missense_H201R exm648570 7 105636709 [A/G] NM_152750 CDHR3 EXON Missense_V208M exm2135830 7 105641910 [T/C] NM_152750 CDHR3 EXON Missense_P239L exm648587 7 105644967 [T/C] NM_152750 CDHR3 EXON Nonsense_Q296X exm648596 7 105645122 [T/G] NM_152750 CDHR3 EXON Missense_K347N exm2135837 7 105653317 [T/C] NM_152750 CDHR3 EXON Missense_P355L exm648599 7 105653388 [T/C] NM_152750 CDHR3 EXON Missense_P379S exm648611 7 105655615 [T/C] NM_152750 CDHR3 EXON Missense_T428M exm2258047 7 105656377 [T/C] NM_152750 CDHR3 EXON Synonymous_N444N exm648617 7 105656378 [A/G] NM_152750 CDHR3 EXON Missense_V445I exm648624 7 105656471 [A/G] NM_152750 CDHR3 EXON Missense_A476T exm648628 7 105658381 [T/C] NM_152750 CDHR3 EXON Missense_L506F exm648632 7 105658451 [A/G] NM_152750 CDHR3 EXON Missense_C529Y exm648633 7 105658460 [C/G] NM_152750 CDHR3 EXON Missense_T532S exm648640 7 105660972 [T/C] NM_152750 CDHR3 EXON Missense_R603C exm648652 7 105662869 [A/C] NM_152750 CDHR3 EXON Missense_T684N exm648655 7 105664860 [A/G] NM_152750 CDHR3 EXON Missense_V704I exm648662 7 105664935 [T/C] NM_152750 CDHR3 EXON Missense_Y729H exm648666 7 105664944 [A/G] NM_152750 CDHR3 EXON Missense_V732I exm648667 7 105665002 [A/C] NM_152750 CDHR3 EXON Missense_E751A exm648668 7 105665004 [A/C] NM_152750 CDHR3 EXON Missense_P752T exm-rs10270308 7 105671267 [T/C] NM_152750 CDHR3 EXON Synonymous_D778D exm648682 7 105672877 [T/G] NM_152750 CDHR3 EXON Missense_A798S exm648683 7 105672929 [A/G] NM_152750 CDHR3 EXON Missense_S815N exm648688 7 105672985 [A/G] NM_152750 CDHR3 EXON Missense_R834G exm648692 7 105673049 [T/G] NM_152750 CDHR3 EXON Missense_G855V exm648693 7 105673067 [A/G] NM_152750 CDHR3 EXON Missense_G861D exm648695 7 105673118 [A/C] NM_152750 CDHR3 EXON Missense_Y878S exm648707 7 105733565 [G/C] NM_182715,NM_006754 SYPL1,SYPL1 EXON Missense_V141L,Missense_V159L exm2135866 7 105738195 [A/G] NM_182715,NM_006754 SYPL1,SYPL1 EXON Missense_L115F,Missense_L133F exm648715 7 105738239 [T/C] NM_182715,NM_006754 SYPL1,SYPL1 EXON Missense_Y100C,Missense_Y118C exm648718 7 105738276 [T/C] NM_182715,NM_006754 SYPL1,SYPL1 EXON Missense_V88I,Missense_V106I exm2275968 7 105739674 [A/T] NM_182715,NM_006754 SYPL1,SYPL1 EXON Missense_I42F,Missense_I60F exm648724 7 105739700 [T/C] NM_182715,NM_006754 SYPL1,SYPL1 EXON Missense_C33Y,Missense_C51Y exm648741 7 105893463 [T/C] NM_005746 NAMPT EXON Synonymous_Q455Q exm2258048 7 105951509 [T/C] exm-rs342293 7 106372219 [C/G] exm-rs17153527 7 106495809 [T/C] exm648818 7 106508268 [T/A] NM_002649 PIK3CG EXON Missense_Y88N exm648833 7 106508480 [T/G] NM_002649 PIK3CG EXON Missense_I158M exm648854 7 106508995 [T/C] NM_002649 PIK3CG EXON Missense_T330M exm648862 7 106509082 [A/G] NM_002649 PIK3CG EXON Missense_R359H exm648872 7 106509331 [A/C] NM_002649 PIK3CG EXON Missense_S442Y exm648878 7 106509435 [T/C] NM_002649 PIK3CG EXON Missense_R477C exm648886 7 106509571 [A/G] NM_002649 PIK3CG EXON Missense_N522S exm648890 7 106509619 [T/C] NM_002649 PIK3CG EXON Missense_P538L exm648893 7 106509676 [T/C] NM_002649 PIK3CG EXON Missense_A557V exm648898 7 106509933 [A/G] NM_002649 PIK3CG EXON Missense_I643V exm648915 7 106515226 [T/G] NM_002649 PIK3CG EXON Missense_G790V exm648916 7 106515241 [T/C] NM_002649 PIK3CG EXON Missense_A795V exm648922 7 106522592 [A/G] NM_002649 PIK3CG EXON Missense_T857A exm648933 7 106524640 [T/G] NM_002649 PIK3CG EXON Missense_G934V exm648939 7 106526714 [A/G] NM_002649 PIK3CG EXON Missense_S1003G exm2135941 7 106545563 [A/G] NM_002649 PIK3CG EXON Missense_V1014I exm2270664 7 106642123 [T/C] exm2262209 7 106714165 [T/C] NM_002736 PRKAR2B Silent exm-rs13224682 7 106763218 [A/G] NM_002736 PRKAR2B Silent exm648969 7 106781370 [A/G] NM_002736 PRKAR2B EXON Missense_D187N exm2258050 7 106793666 [A/G] NM_002736 PRKAR2B EXON Synonymous_V296V exm2266459 7 106799997 [A/G] NM_002736 PRKAR2B EXON Synonymous_T409T exm649001 7 106822938 [A/G] NM_001244262,NM_012257 HBP1,HBP1 EXON Missense_D107G,Missense_D97G exm649007 7 106826298 [T/C] NM_001244262,NM_012257 HBP1,HBP1 EXON Missense_R161C,Missense_R151C exm649035 7 106836335 [C/G] NM_001244262,NM_012257 HBP1,HBP1 EXON Missense_R385P,Missense_R375P exm649046 7 106844050 [A/G] NM_006348,NM_181733 COG5,COG5 EXON Missense_S832P,Missense_S811P exm649053 7 106851618 [C/G] NM_006348,NM_181733,NM_001161520 COG5,COG5,COG5 EXON Missense_D772H,Missense_D751H,Missense_D772H exm649065 7 106876963 [A/G] NM_006348,NM_181733,NM_001161520 COG5,COG5,COG5 EXON Missense_R706C,Missense_R685C,Missense_R706C exm649067 7 106877083 [T/C] NM_006348,NM_181733,NM_001161520 COG5,COG5,COG5 EXON Missense_K666E,Missense_K645E,Missense_K666E exm649073 7 106888938 [A/G] NM_006348,NM_181733,NM_001161520 COG5,COG5,COG5 EXON Missense_H617Y,Missense_H596Y,Missense_H617Y exm2136002 7 106897203 [A/C] NM_006348,NM_181733,NM_001161520 COG5,COG5,COG5 EXON Nonsense_E606X,Silent,Nonsense_E606X exm649093 7 106921844 [A/G] NM_006348,NM_181733,NM_001161520 COG5,COG5,COG5 EXON Synonymous_S523S,Synonymous_S523S,Synonymous_S523S exm649097 7 106924110 [A/G] NM_006348,NM_181733,NM_001161520 COG5,COG5,COG5 EXON Nonsense_R492X,Nonsense_R492X,Nonsense_R492X exm-rs3815148 7 106938420 [A/C] NM_006348,NM_181733,NM_001161520 COG5,COG5,COG5 Silent,Silent,Silent exm649100 7 106938598 [A/C] NM_006348,NM_181733,NM_001161520 COG5,COG5,COG5 EXON Missense_K465N,Missense_K465N,Missense_K465N exm2136009 7 106938610 [T/G] NM_006348,NM_181733,NM_001161520 COG5,COG5,COG5 EXON Missense_F461L,Missense_F461L,Missense_F461L exm649101 7 106938638 [T/C] NM_006348,NM_181733,NM_001161520 COG5,COG5,COG5 EXON Missense_H452R,Missense_H452R,Missense_H452R exm649103 7 106938653 [T/C] NM_006348,NM_181733,NM_001161520 COG5,COG5,COG5 EXON Missense_Y447C,Missense_Y447C,Missense_Y447C exm649108 7 106938716 [T/C] NM_006348,NM_181733,NM_001161520 COG5,COG5,COG5 EXON Missense_R426H,Missense_R426H,Missense_R426H exm649110 7 106938740 [T/C] NM_006348,NM_181733,NM_001161520 COG5,COG5,COG5 EXON Missense_R418H,Missense_R418H,Missense_R418H exm649116 7 106964956 [A/G] NM_006348,NM_181733,NM_001161520 COG5,COG5,COG5 EXON Missense_P377L,Missense_P377L,Missense_P377L exm649118 7 107002504 [T/C] NM_006348,NM_181733,NM_001161520 COG5,COG5,COG5 EXON Missense_I365V,Missense_I365V,Missense_I365V exm649121 7 107002806 [A/G] NM_006348,NM_181733,NM_001161520 COG5,COG5,COG5 EXON Missense_F330L,Missense_F330L,Missense_F330L exm649131 7 107013085 [A/T] NM_006348,NM_181733,NM_001161520 COG5,COG5,COG5 EXON Missense_L295I,Missense_L295I,Missense_L295I exm649150 7 107053030 [T/C] NM_006348,NM_181733,NM_001161520 COG5,COG5,COG5 EXON Missense_N227D,Missense_N227D,Missense_N227D exm649181 7 107115671 [T/C] NM_006348,NM_181733,NM_001161520,NM_005295 COG5,COG5,COG5,GPR22 EXON Silent,Silent,Silent,Missense_I389T exm649185 7 107115800 [A/C] NM_006348,NM_181733,NM_001161520,NM_005295 COG5,COG5,COG5,GPR22 EXON Silent,Silent,Silent,Missense_T432K exm649190 7 107167769 [T/C] NM_006348,NM_181733,NM_001161520 COG5,COG5,COG5 EXON Missense_I182V,Missense_I182V,Missense_I182V exm2244813 7 107188582 [A/G] NM_006348,NM_181733,NM_001161520 COG5,COG5,COG5 EXON Missense_R162W,Missense_R162W,Missense_R162W exm649195 7 107188612 [T/G] NM_006348,NM_181733,NM_001161520 COG5,COG5,COG5 EXON Missense_I152L,Missense_I152L,Missense_I152L exm649198 7 107188772 [A/G] NM_006348,NM_181733,NM_001161520 COG5,COG5,COG5 EXON Missense_L131F,Missense_L131F,Missense_L131F exm649203 7 107194775 [A/G] NM_006348,NM_181733,NM_001161520 COG5,COG5,COG5 EXON Missense_H114Y,Missense_H114Y,Missense_H114Y exm649215 7 107204275 [G/C] NM_006348,NM_181733,NM_001161520 COG5,COG5,COG5 EXON Missense_A54P,Missense_A54P,Missense_A54P exm649217 7 107204292 [A/C] NM_006348,NM_181733,NM_001161520 COG5,COG5,COG5 EXON Missense_G48V,Missense_G48V,Missense_G48V exm649224 7 107204371 [T/C] NM_006348,NM_181733,NM_001161520 COG5,COG5,COG5 EXON Missense_A22T,Missense_A22T,Missense_A22T exm-rs4730250 7 107207695 [A/G] NM_181581,NR_073005,NR_073002,NR_073004,NR_073003,NM_001270419 DUS4L,DUS4L,DUS4L,DUS4L,DUS4L,DUS4L Silent,Silent,Silent,Silent,Silent,Silent exm649232 7 107211657 [A/G] NM_181581,NR_073005,NR_073002,NR_073004,NR_073003,NM_001270419 DUS4L,DUS4L,DUS4L,DUS4L,DUS4L,DUS4L EXON Missense_A62T,Silent,Silent,Silent,Silent,Missense_A62T exm649235 7 107211703 [T/C] NM_181581,NR_073005,NR_073002,NR_073004,NR_073003,NM_001270419 DUS4L,DUS4L,DUS4L,DUS4L,DUS4L,DUS4L EXON Missense_T77I,Silent,Silent,Silent,Silent,Missense_T77I exm649238 7 107214192 [A/C] NM_181581,NR_073005,NR_073002,NR_073004,NR_073003,NM_001270419 DUS4L,DUS4L,DUS4L,DUS4L,DUS4L,DUS4L EXON Missense_R94S,Silent,Silent,Silent,Silent,Missense_R94S exm649240 7 107214212 [A/G] NM_181581,NR_073005,NR_073002,NR_073004,NR_073003,NM_001270419 DUS4L,DUS4L,DUS4L,DUS4L,DUS4L,DUS4L EXON Missense_R101H,Silent,Silent,Silent,Silent,Missense_R101H exm649244 7 107215672 [A/C] NM_181581,NR_073005,NR_073002,NR_073004,NR_073003,NM_001270419 DUS4L,DUS4L,DUS4L,DUS4L,DUS4L,DUS4L EXON Missense_N132K,Silent,Silent,Silent,Silent,Missense_N132K exm649249 7 107216839 [G/C] NM_181581,NR_073005,NR_073002,NR_073004,NR_073003,NM_001270419 DUS4L,DUS4L,DUS4L,DUS4L,DUS4L,DUS4L EXON Missense_D170H,Silent,Silent,Silent,Silent,Missense_D170H exm649258 7 107217020 [A/G] NM_181581,NR_073005,NR_073002,NR_073004,NR_073003,NM_001270419 DUS4L,DUS4L,DUS4L,DUS4L,DUS4L,DUS4L EXON Missense_R230Q,Silent,Silent,Silent,Silent,Missense_R230Q exm2244814 7 107224334 [A/G] NR_027830,NM_018844,NM_001008405 BCAP29,BCAP29,BCAP29 EXON Silent,Missense_K34E,Missense_K34E exm649291 7 107236427 [A/G] NR_027830,NM_018844,NM_001008405 BCAP29,BCAP29,BCAP29 EXON Silent,Missense_E154K,Missense_E154K exm-rs10953541 7 107244545 [T/C] NR_027830,NM_018844,NM_001008405 BCAP29,BCAP29,BCAP29 Silent,Silent,Silent exm649308 7 107254130 [A/G] NR_027830,NM_018844,NM_001008405 BCAP29,BCAP29,BCAP29 EXON Silent,Silent,Missense_R241K exm649310 7 107254144 [T/G] NR_027830,NM_018844,NM_001008405 BCAP29,BCAP29,BCAP29 EXON Silent,Silent,Missense_G246C exm649319 7 107258904 [T/C] NR_027830,NM_018844,NM_001008405 BCAP29,BCAP29,BCAP29 EXON Silent,Silent,Missense_R301W exm649320 7 107258907 [T/C] NR_027830,NM_018844,NM_001008405 BCAP29,BCAP29,BCAP29 EXON Silent,Silent,Missense_F302L exm649321 7 107258910 [A/G] NR_027830,NM_018844,NM_001008405 BCAP29,BCAP29,BCAP29 EXON Silent,Silent,Missense_V303I exm649323 7 107258931 [T/A] NR_027830,NM_018844,NM_001008405 BCAP29,BCAP29,BCAP29 EXON Silent,Silent,Missense_I310L exm649324 7 107258935 [T/G] NR_027830,NM_018844,NM_001008405 BCAP29,BCAP29,BCAP29 EXON Silent,Silent,Missense_G311V exm649346 7 107302103 [T/G] NR_028137,NM_000441 SLC26A4-AS1,SLC26A4 EXON Silent,Missense_G6V exm649347 7 107302114 [A/C] NR_028137,NM_000441 SLC26A4-AS1,SLC26A4 EXON Silent,Missense_P10T exm649367 7 107314634 [A/G] NM_000441 SLC26A4 EXON Missense_M147I exm649368 7 107314665 [A/G] NM_000441 SLC26A4 EXON Missense_D158N exm649373 7 107314728 [A/G] NM_000441 SLC26A4 EXON Missense_A179T exm649375 7 107314758 [T/G] NM_000441 SLC26A4 EXON Missense_A189S exm649378 7 107315415 [T/G] NM_000441 SLC26A4 EXON Missense_G209V exm649380 7 107315496 [T/C] NM_000441 SLC26A4 EXON Missense_L236P exm2136095 7 107315554 [T/C] NM_000441 SLC26A4 EXON Synonymous_Y255Y exm649388 7 107323730 [C/G] NM_000441 SLC26A4 EXON Missense_M283I exm649390 7 107323753 [A/G] NM_000441 SLC26A4 EXON Missense_R291Q exm2136100 7 107323779 [A/C] NM_000441 SLC26A4 EXON Missense_I300L exm649391 7 107323901 [T/C] NM_000441 SLC26A4 EXON Missense_T307M exm649393 7 107323945 [A/G] NM_000441 SLC26A4 EXON Missense_N322D exm649394 7 107323951 [T/A] NM_000441 SLC26A4 EXON Missense_N324Y exm649397 7 107323983 [A/G] NM_000441 SLC26A4 Silent exm649399 7 107329499 [T/C] NM_000441 SLC26A4 EXON Missense_F335L exm649402 7 107329536 [T/C] NM_000441 SLC26A4 EXON Missense_S347L exm649404 7 107329557 [T/C] NM_000441 SLC26A4 EXON Missense_F354S exm649405 7 107329565 [A/G] NM_000441 SLC26A4 EXON Missense_A357T exm649411 7 107330648 [T/C] NM_000441 SLC26A4 EXON Missense_T410M exm649416 7 107330665 [A/C] NM_000441 SLC26A4 EXON Missense_T416P exm649435 7 107338556 [T/C] NM_000441 SLC26A4 EXON Synonymous_N538N exm649438 7 107340529 [T/C] NM_000441 SLC26A4 EXON Missense_I539T exm649442 7 107341628 [T/C] NM_000441 SLC26A4 EXON Missense_L597S exm649443 7 107341634 [T/C] NM_000441 SLC26A4 EXON Missense_A599V exm649445 7 107342294 [T/G] NM_000441 SLC26A4 EXON Missense_V609G exm649448 7 107342369 [T/C] NM_000441 SLC26A4 EXON Missense_I634T exm2244819 7 107342392 [T/C] NM_000441 SLC26A4 EXON Missense_S642P exm2136121 7 107342451 [A/C] NM_000441 SLC26A4 EXON Missense_D661E exm649456 7 107344800 [T/G] NM_000441 SLC26A4 EXON Missense_D687Y exm649462 7 107350527 [A/C] NM_000441 SLC26A4 EXON Nonsense_C706X exm649466 7 107350548 [T/G] NM_000441 SLC26A4 EXON Missense_I713M exm2136126 7 107350559 [G/C] NM_000441 SLC26A4 EXON Missense_T717R exm2244821 7 107350577 [A/G] NM_000441 SLC26A4 EXON Missense_H723R exm649470 7 107350599 [T/G] NM_000441 SLC26A4 EXON Missense_Q730H exm649471 7 107350620 [C/G] NM_000441 SLC26A4 EXON Missense_E737D exm649473 7 107350627 [A/G] NM_000441 SLC26A4 EXON Missense_G740S exm649486 7 107355874 [T/C] NM_000441 SLC26A4 EXON Missense_R776C exm649496 7 107389424 [T/C] NR_024199,NM_024814 CBLL1,CBLL1 EXON Silent,Missense_A38V exm649535 7 107399213 [T/C] NR_024199,NM_024814 CBLL1,CBLL1 EXON Silent,Missense_P356S exm649540 7 107399597 [A/G] NR_024199,NM_024814 CBLL1,CBLL1 EXON Silent,Missense_T484A exm649546 7 107408037 [T/C] NM_000111 SLC26A3 EXON Missense_N753S exm649553 7 107408247 [C/G] NM_000111 SLC26A3 EXON Missense_K723N exm649558 7 107408324 [C/G] NM_000111 SLC26A3 EXON Missense_E698Q exm649563 7 107412499 [G/C] NM_000111 SLC26A3 EXON Missense_D688H exm649575 7 107414570 [A/G] NM_000111 SLC26A3 EXON Missense_I601T exm649577 7 107414586 [A/C] NM_000111 SLC26A3 EXON Missense_C596G exm649579 7 107415259 [T/C] NM_000111 SLC26A3 EXON Missense_R579Q exm649589 7 107416913 [T/C] NM_000111 SLC26A3 EXON Missense_R554Q exm649590 7 107416925 [C/G] NM_000111 SLC26A3 EXON Missense_G550A exm649597 7 107417137 [A/G] NM_000111 SLC26A3 EXON Missense_T510M exm649600 7 107418639 [T/C] NM_000111 SLC26A3 EXON Missense_I499V exm649614 7 107423444 [G/C] NM_000111 SLC26A3 EXON Missense_S405T exm649626 7 107427322 [A/C] NM_000111 SLC26A3 EXON Missense_C307W exm649630 7 107427866 [A/G] NM_000111 SLC26A3 EXON Missense_V275A exm649640 7 107429993 [C/G] NM_000111 SLC26A3 EXON Missense_H237Q exm2244826 7 107430114 [T/C] NM_000111 SLC26A3 EXON Missense_R197Q exm649649 7 107431533 [A/G] NM_000111 SLC26A3 EXON Missense_A177V exm649653 7 107431605 [T/C] NM_000111 SLC26A3 EXON Missense_N153S exm2274267 7 107432300 [A/G] NM_000111 SLC26A3 EXON Synonymous_F119F exm649663 7 107432325 [A/G] NM_000111 SLC26A3 EXON Missense_F111S exm649669 7 107434217 [T/C] NM_000111 SLC26A3 EXON Missense_I81V exm649670 7 107434255 [T/C] NM_000111 SLC26A3 EXON Missense_R68Q exm649671 7 107434311 [A/C] NM_000111 SLC26A3 EXON Missense_K49N exm-rs2108225 7 107453103 [A/G] exm-rs4730273 7 107479519 [A/C] exm-rs4730276 7 107484437 [A/G] exm-rs4510766 7 107492789 [A/G] exm-rs886774 7 107495434 [A/G] exm-rs4598195 7 107503441 [A/C] exm649686 7 107531729 [A/G] NM_000108 DLD EXON Missense_A12T exm649688 7 107533658 [A/G] NM_000108 DLD EXON Missense_N18S exm649689 7 107533660 [C/G] NM_000108 DLD EXON Missense_R19G exm649694 7 107533705 [A/G] NM_000108 DLD EXON Missense_T34A exm649712 7 107545837 [C/G] NM_000108 DLD EXON Missense_T157S exm649721 7 107545948 [T/C] NM_000108 DLD EXON Missense_T194M exm649728 7 107555951 [T/G] NM_000108 DLD EXON Missense_G229C exm649730 7 107556054 [A/G] NM_000108 DLD EXON Missense_R263H exm649731 7 107556092 [A/T] NM_000108 DLD EXON Missense_T276S exm649733 7 107556135 [A/G] NM_000108 DLD EXON Missense_D290G exm649734 7 107556141 [T/C] NM_000108 DLD EXON Missense_S292F exm649735 7 107557274 [T/C] NM_000108 DLD EXON Missense_I304T exm649759 7 107564485 [T/C] NM_002291 LAMB1 EXON Missense_A1758T exm2258053 7 107564742 [A/G] NM_002291 LAMB1 EXON Synonymous_A1719A exm649777 7 107566714 [A/G] NM_002291 LAMB1 EXON Missense_R1660W exm649795 7 107569962 [A/G] NM_002291 LAMB1 EXON Missense_I1547T exm649798 7 107571819 [T/C] NM_002291 LAMB1 EXON Missense_I1507V exm649826 7 107575859 [C/G] NM_002291 LAMB1 Silent exm649827 7 107575865 [T/C] NM_002291 LAMB1 EXON Missense_E1395K exm649832 7 107576012 [G/C] NM_002291 LAMB1 EXON Missense_V1346L exm649834 7 107576056 [C/G] NM_002291 LAMB1 EXON Missense_A1331G exm649848 7 107580545 [A/C] NM_002291 LAMB1 EXON Missense_R1217L exm649849 7 107580546 [A/G] NM_002291 LAMB1 EXON Missense_R1217C exm649868 7 107580773 [A/G] NM_002291 LAMB1 EXON Missense_T1141M exm-rs2158836 7 107580839 [A/G] NM_002291 LAMB1 Silent exm649877 7 107591763 [A/G] NM_002291 LAMB1 EXON Missense_T1100M exm649881 7 107592521 [A/G] NM_002291 LAMB1 EXON Missense_A1076V exm649887 7 107592624 [T/C] NM_002291 LAMB1 EXON Missense_G1042S exm649892 7 107593989 [T/C] NM_002291 LAMB1 EXON Missense_Q1022R exm649893 7 107594016 [T/C] NM_002291 LAMB1 EXON Missense_R1013Q exm649901 7 107594134 [G/C] NM_002291 LAMB1 EXON Missense_Q974E exm649905 7 107594184 [T/C] NM_002291 LAMB1 EXON Missense_D957G exm649906 7 107594185 [T/C] NM_002291 LAMB1 EXON Missense_D957N exm649915 7 107596043 [A/G] NM_002291 LAMB1 EXON Missense_I908T exm649917 7 107599692 [A/G] NM_002291 LAMB1 Silent exm649921 7 107599780 [C/G] NM_002291 LAMB1 EXON Missense_Q868H exm649922 7 107599806 [T/C] NM_002291 LAMB1 EXON Missense_G860S exm649924 7 107599827 [A/G] NM_002291 LAMB1 EXON Missense_R853W exm649926 7 107599842 [G/C] NM_002291 LAMB1 EXON Missense_A848P exm649929 7 107600136 [A/G] NM_002291 LAMB1 EXON Missense_P820S exm649933 7 107600211 [G/C] NM_002291 LAMB1 EXON Missense_R795G exm649940 7 107600968 [T/C] NM_002291 LAMB1 EXON Missense_V746I exm649945 7 107601052 [T/C] NM_002291 LAMB1 EXON Missense_V718M exm649948 7 107601091 [C/G] NM_002291 LAMB1 EXON Missense_V705L exm649957 7 107601751 [A/G] NM_002291 LAMB1 EXON Missense_V670A exm649965 7 107602034 [T/C] NM_002291 LAMB1 EXON Missense_D649N exm649967 7 107602055 [C/G] NM_002291 LAMB1 EXON Missense_R642G exm649979 7 107603448 [T/C] NM_002291 LAMB1 EXON Missense_G587S exm649981 7 107603471 [T/C] NM_002291 LAMB1 EXON Missense_R579Q exm649992 7 107605100 [T/C] NM_002291 LAMB1 EXON Missense_R532Q exm649997 7 107605124 [A/G] NM_002291 LAMB1 EXON Missense_A524V exm650000 7 107613494 [T/C] NM_002291 LAMB1 EXON Missense_N502S exm650005 7 107615466 [A/G] NM_002291 LAMB1 EXON Missense_R483C exm650012 7 107615741 [T/C] NM_002291 LAMB1 EXON Missense_H436R exm650019 7 107616188 [A/G] NM_002291 LAMB1 EXON Missense_P379S exm650023 7 107616254 [T/C] NM_002291 LAMB1 EXON Missense_V357I exm650037 7 107621253 [A/G] NM_002291 LAMB1 EXON Missense_L227S exm650045 7 107626756 [G/C] NM_002291 LAMB1 EXON Missense_T159S exm650085 7 107671300 [A/G] NM_007356 LAMB4 EXON Missense_A1648V exm650087 7 107671345 [A/G] NM_007356 LAMB4 EXON Missense_L1633P exm650089 7 107671360 [T/C] NM_007356 LAMB4 EXON Missense_E1628G exm650095 7 107671407 [C/G] NM_007356 LAMB4 EXON Missense_R1612S exm650101 7 107674718 [A/G] NM_007356 LAMB4 EXON Missense_R1585W exm650103 7 107674791 [T/C] NM_007356 LAMB4 EXON Synonymous_E1560E exm650117 7 107677984 [A/G] NM_007356 LAMB4 EXON Missense_H1510Y exm650122 7 107684224 [T/G] NM_007356 LAMB4 EXON Missense_I1482L exm2136332 7 107684230 [A/G] NM_007356 LAMB4 EXON Missense_L1480F exm650124 7 107684274 [A/C] NM_007356 LAMB4 EXON Missense_G1465V exm2136336 7 107688495 [T/G] NM_007356 LAMB4 EXON Missense_T1395K exm650137 7 107688543 [A/G] NM_007356 LAMB4 EXON Missense_P1379L exm650139 7 107689844 [T/G] NM_007356 LAMB4 EXON Missense_T1350N exm650141 7 107689977 [T/C] NM_007356 LAMB4 Silent exm650143 7 107692545 [T/C] NM_007356 LAMB4 EXON Missense_A1305T exm650153 7 107696101 [A/C] NM_007356 LAMB4 EXON Missense_V1244G exm650158 7 107696300 [A/G] NM_007356 LAMB4 EXON Missense_C1178R exm650167 7 107696438 [T/C] NM_007356 LAMB4 EXON Missense_R1132G exm2274268 7 107696450 [A/G] NM_007356 LAMB4 EXON Missense_C1128R exm650176 7 107703235 [A/C] NM_007356 LAMB4 EXON Missense_S1089I exm650187 7 107703416 [T/C] NM_007356 LAMB4 EXON Missense_V1029M exm650193 7 107704244 [A/G] NM_007356 LAMB4 EXON Missense_P1008L exm650199 7 107704289 [T/C] NM_007356 LAMB4 EXON Missense_R993Q exm650201 7 107704341 [T/C] NM_007356 LAMB4 EXON Missense_I976V exm650204 7 107706208 [T/C] NM_007356 LAMB4 EXON Synonymous_T945T exm650212 7 107706895 [T/C] NM_007356 LAMB4 EXON Missense_N866S exm650214 7 107706946 [T/C] NM_007356 LAMB4 EXON Missense_R849H exm650216 7 107706958 [T/C] NM_007356 LAMB4 EXON Missense_R845H exm650218 7 107707007 [T/A] NM_007356 LAMB4 EXON Missense_C829S exm2244833 7 107708532 [A/G] NM_007356 LAMB4 EXON Missense_P792L exm650222 7 107708533 [T/G] NM_007356 LAMB4 EXON Missense_P792T exm650230 7 107710262 [A/C] NM_007356 LAMB4 EXON Missense_Q731H exm650251 7 107720056 [T/C] NM_007356 LAMB4 EXON Missense_Y626C exm650253 7 107720090 [T/G] NM_007356 LAMB4 EXON Missense_P615T exm650255 7 107720162 [A/C] NM_007356 LAMB4 EXON Missense_V591F exm650259 7 107720186 [A/C] NM_007356 LAMB4 EXON Nonsense_G583X exm650260 7 107720211 [C/G] NM_007356 LAMB4 EXON Missense_Q574H exm650262 7 107720221 [A/G] NM_007356 LAMB4 EXON Missense_T571M exm650266 7 107732072 [A/C] NM_007356 LAMB4 EXON Missense_L567W exm650275 7 107732172 [A/G] NM_007356 LAMB4 EXON Missense_R534C exm650277 7 107732219 [A/C] NM_007356 LAMB4 EXON Missense_C518F exm650278 7 107732783 [T/C] NM_007356 LAMB4 EXON Missense_V517M exm650287 7 107735722 [A/T] NM_007356 LAMB4 EXON Missense_Q474L exm650298 7 107738868 [A/G] NM_007356 LAMB4 EXON Missense_T447I exm2244834 7 107746290 [T/C] NM_007356 LAMB4 EXON Missense_R281Q exm650335 7 107746309 [A/G] NM_007356 LAMB4 EXON Missense_R275C exm650339 7 107746432 [A/G] NM_007356 LAMB4 EXON Missense_H234Y exm650342 7 107746975 [T/G] NM_007356 LAMB4 EXON Missense_P212T exm650358 7 107749668 [G/C] NM_007356 LAMB4 EXON Missense_R117T exm650375 7 107756510 [A/G] NM_007356 LAMB4 EXON Missense_M44T exm650377 7 107756519 [A/G] NM_007356 LAMB4 EXON Missense_T41M exm650387 7 107763575 [T/C] NM_007356 LAMB4 Silent exm650393 7 107790417 [T/C] NM_005010,NM_001037132,NM_001193582,NM_001193583,NM_001193584 NRCAM,NRCAM,NRCAM,NRCAM,NRCAM EXON Missense_A1164T,Missense_A1285T,Missense_A1192T,Missense_A1173T,Missense_A1161T exm650406 7 107800936 [T/C] NM_005010,NM_001037132,NM_001193582,NM_001193583,NM_001193584 NRCAM,NRCAM,NRCAM,NRCAM,NRCAM EXON Synonymous_A1035A,Synonymous_A1156A,Synonymous_A1063A,Synonymous_A1044A,Synonymous_A1032A exm650408 7 107807480 [A/G] NM_005010,NM_001037132,NM_001193582,NM_001193583,NM_001193584 NRCAM,NRCAM,NRCAM,NRCAM,NRCAM EXON Silent,Missense_R1118W,Silent,Silent,Silent exm650409 7 107808776 [T/C] NM_005010,NM_001037132,NM_001193582,NM_001193583,NM_001193584 NRCAM,NRCAM,NRCAM,NRCAM,NRCAM EXON Silent,Missense_E1087K,Silent,Silent,Silent exm2270777 7 107815158 [T/C] NM_005010,NM_001037132,NM_001193582,NM_001193583,NM_001193584 NRCAM,NRCAM,NRCAM,NRCAM,NRCAM Silent,Silent,Silent,Silent,Silent exm650418 7 107817031 [T/C] NM_005010,NM_001037132,NM_001193582,NM_001193583,NM_001193584 NRCAM,NRCAM,NRCAM,NRCAM,NRCAM EXON Missense_G983S,Missense_G999S,Missense_G999S,Missense_G980S,Missense_G980S exm650427 7 107820813 [T/G] NM_005010,NM_001037132,NM_001193582,NM_001193583,NM_001193584 NRCAM,NRCAM,NRCAM,NRCAM,NRCAM EXON Missense_K886T,Missense_K902T,Missense_K902T,Missense_K883T,Missense_K883T exm650428 7 107820819 [T/C] NM_005010,NM_001037132,NM_001193582,NM_001193583,NM_001193584 NRCAM,NRCAM,NRCAM,NRCAM,NRCAM EXON Missense_E884G,Missense_E900G,Missense_E900G,Missense_E881G,Missense_E881G exm650434 7 107822355 [A/G] NM_005010,NM_001037132,NM_001193582,NM_001193583,NM_001193584 NRCAM,NRCAM,NRCAM,NRCAM,NRCAM EXON Missense_R837C,Missense_R853C,Missense_R853C,Missense_R834C,Missense_R834C exm2136438 7 107822370 [T/C] NM_005010,NM_001037132,NM_001193582,NM_001193583,NM_001193584 NRCAM,NRCAM,NRCAM,NRCAM,NRCAM EXON Missense_A832T,Missense_A848T,Missense_A848T,Missense_A829T,Missense_A829T exm650441 7 107823258 [G/C] NM_005010,NM_001037132,NM_001193582,NM_001193583,NM_001193584 NRCAM,NRCAM,NRCAM,NRCAM,NRCAM EXON Missense_S788C,Missense_S804C,Missense_S804C,Missense_S785C,Missense_S785C exm650443 7 107823265 [T/C] NM_005010,NM_001037132,NM_001193582,NM_001193583,NM_001193584 NRCAM,NRCAM,NRCAM,NRCAM,NRCAM EXON Missense_N786D,Missense_N802D,Missense_N802D,Missense_N783D,Missense_N783D exm650462 7 107830092 [T/C] NM_005010,NM_001037132,NM_001193582,NM_001193583,NM_001193584 NRCAM,NRCAM,NRCAM,NRCAM,NRCAM EXON Missense_T662A,Missense_T678A,Missense_T678A,Missense_T659A,Missense_T659A exm650473 7 107832220 [T/C] NM_005010,NM_001037132,NM_001193582,NM_001193583,NM_001193584 NRCAM,NRCAM,NRCAM,NRCAM,NRCAM EXON Missense_N613S,Missense_N619S,Missense_N619S,Missense_N600S,Missense_N600S exm650482 7 107834586 [A/G] NM_005010,NM_001037132,NM_001193582,NM_001193583,NM_001193584 NRCAM,NRCAM,NRCAM,NRCAM,NRCAM EXON Missense_Y548H,Missense_Y554H,Missense_Y554H,Missense_Y535H,Missense_Y535H exm650490 7 107834852 [T/C] NM_005010,NM_001037132,NM_001193582,NM_001193583,NM_001193584 NRCAM,NRCAM,NRCAM,NRCAM,NRCAM EXON Missense_S489N,Missense_S495N,Missense_S495N,Missense_S476N,Missense_S476N exm650492 7 107836209 [T/C] NM_005010,NM_001037132,NM_001193582,NM_001193583,NM_001193584 NRCAM,NRCAM,NRCAM,NRCAM,NRCAM EXON Missense_E481K,Missense_E487K,Missense_E487K,Missense_E468K,Missense_E468K exm650497 7 107836311 [G/C] NM_005010,NM_001037132,NM_001193582,NM_001193583,NM_001193584 NRCAM,NRCAM,NRCAM,NRCAM,NRCAM EXON Missense_P447A,Missense_P453A,Missense_P453A,Missense_P434A,Missense_P434A exm650508 7 107848068 [A/C] NM_005010,NM_001037132,NM_001193582,NM_001193583,NM_001193584 NRCAM,NRCAM,NRCAM,NRCAM,NRCAM EXON Missense_V365L,Missense_V371L,Missense_V371L,Missense_V352L,Missense_V352L exm650509 7 107848103 [A/G] NM_005010,NM_001037132,NM_001193582,NM_001193583,NM_001193584 NRCAM,NRCAM,NRCAM,NRCAM,NRCAM EXON Missense_A353V,Missense_A359V,Missense_A359V,Missense_A340V,Missense_A340V exm650515 7 107849931 [T/C] NM_005010,NM_001037132,NM_001193582,NM_001193583,NM_001193584 NRCAM,NRCAM,NRCAM,NRCAM,NRCAM EXON Missense_N331D,Missense_N337D,Missense_N337D,Missense_N318D,Missense_N318D exm650518 7 107850039 [T/C] NM_005010,NM_001037132,NM_001193582,NM_001193583,NM_001193584 NRCAM,NRCAM,NRCAM,NRCAM,NRCAM EXON Missense_I295V,Missense_I301V,Missense_I301V,Missense_I282V,Missense_I282V exm650521 7 107866089 [T/C] NM_005010,NM_001037132,NM_001193582,NM_001193583,NM_001193584 NRCAM,NRCAM,NRCAM,NRCAM,NRCAM EXON Missense_A254T,Missense_A260T,Missense_A260T,Silent,Silent exm650534 7 107872866 [C/G] NM_005010,NM_001037132,NM_001193582,NM_001193583,NM_001193584 NRCAM,NRCAM,NRCAM,NRCAM,NRCAM EXON Missense_E105Q,Missense_E111Q,Missense_E111Q,Missense_E111Q,Missense_E111Q exm650535 7 107872877 [T/A] NM_005010,NM_001037132,NM_001193582,NM_001193583,NM_001193584 NRCAM,NRCAM,NRCAM,NRCAM,NRCAM EXON Missense_N101I,Missense_N107I,Missense_N107I,Missense_N107I,Missense_N107I exm2258054 7 107938242 [T/C] NM_005010,NM_001193582,NM_001193583,NM_001193584 NRCAM,NRCAM,NRCAM,NRCAM Silent,Silent,Silent,Silent exm650569 7 108119792 [A/G] NM_015723,NM_001256011,NM_001256009,NM_001256010,NM_001256007,NM_001256008 PNPLA8,PNPLA8,PNPLA8,PNPLA8,PNPLA8,PNPLA8 EXON Missense_A637V,Missense_A537V,Missense_A575V,Missense_A537V,Missense_A637V,Missense_A637V exm650580 7 108137038 [T/C] NM_015723,NM_001256011,NM_001256009,NM_001256010,NM_001256007,NM_001256008 PNPLA8,PNPLA8,PNPLA8,PNPLA8,PNPLA8,PNPLA8 EXON Missense_N539D,Missense_N439D,Missense_N539D,Missense_N439D,Missense_N539D,Missense_N539D exm650597 7 108154659 [A/C] NM_015723,NM_001256011,NM_001256009,NM_001256010,NM_001256007,NM_001256008 PNPLA8,PNPLA8,PNPLA8,PNPLA8,PNPLA8,PNPLA8 EXON Missense_C379G,Missense_C279G,Missense_C379G,Missense_C279G,Missense_C379G,Missense_C379G exm650601 7 108154911 [T/C] NM_015723,NM_001256011,NM_001256009,NM_001256010,NM_001256007,NM_001256008 PNPLA8,PNPLA8,PNPLA8,PNPLA8,PNPLA8,PNPLA8 EXON Missense_E342G,Missense_E242G,Missense_E342G,Missense_E242G,Missense_E342G,Missense_E342G exm650609 7 108155026 [T/C] NM_015723,NM_001256011,NM_001256009,NM_001256010,NM_001256007,NM_001256008 PNPLA8,PNPLA8,PNPLA8,PNPLA8,PNPLA8,PNPLA8 EXON Missense_G304S,Missense_G204S,Missense_G304S,Missense_G204S,Missense_G304S,Missense_G304S exm650610 7 108155044 [T/C] NM_015723,NM_001256011,NM_001256009,NM_001256010,NM_001256007,NM_001256008 PNPLA8,PNPLA8,PNPLA8,PNPLA8,PNPLA8,PNPLA8 EXON Missense_V298I,Missense_V198I,Missense_V298I,Missense_V198I,Missense_V298I,Missense_V298I exm650619 7 108155128 [T/C] NM_015723,NM_001256011,NM_001256009,NM_001256010,NM_001256007,NM_001256008 PNPLA8,PNPLA8,PNPLA8,PNPLA8,PNPLA8,PNPLA8 EXON Missense_T270A,Missense_T170A,Missense_T270A,Missense_T170A,Missense_T270A,Missense_T270A exm650626 7 108155286 [C/G] NM_015723,NM_001256011,NM_001256009,NM_001256010,NM_001256007,NM_001256008 PNPLA8,PNPLA8,PNPLA8,PNPLA8,PNPLA8,PNPLA8 EXON Missense_R217P,Missense_R117P,Missense_R217P,Missense_R117P,Missense_R217P,Missense_R217P exm650632 7 108155377 [A/G] NM_015723,NM_001256011,NM_001256009,NM_001256010,NM_001256007,NM_001256008 PNPLA8,PNPLA8,PNPLA8,PNPLA8,PNPLA8,PNPLA8 EXON Missense_R187C,Missense_R87C,Missense_R187C,Missense_R87C,Missense_R187C,Missense_R187C exm650636 7 108155475 [A/G] NM_015723,NM_001256011,NM_001256009,NM_001256010,NM_001256007,NM_001256008 PNPLA8,PNPLA8,PNPLA8,PNPLA8,PNPLA8,PNPLA8 EXON Missense_I154T,Missense_I54T,Missense_I154T,Missense_I54T,Missense_I154T,Missense_I154T exm650661 7 108204688 [T/C] NM_001130475,NM_182529 THAP5,THAP5 EXON Missense_N379D,Missense_N337D exm2244839 7 108204718 [T/G] NM_001130475,NM_182529 THAP5,THAP5 EXON Missense_L369I,Missense_L327I exm2244840 7 108204963 [T/G] NM_001130475,NM_182529 THAP5,THAP5 EXON Missense_S287Y,Missense_S245Y exm650677 7 108205125 [A/G] NM_001130475,NM_182529 THAP5,THAP5 EXON Missense_A233V,Missense_A191V exm650685 7 108205372 [A/G] NM_001130475,NM_182529 THAP5,THAP5 EXON Missense_P151S,Missense_P109S exm650692 7 108212174 [A/G] NM_012328 DNAJB9 EXON Missense_A2T exm650698 7 108212243 [A/G] NM_012328 DNAJB9 EXON Missense_K25E exm650701 7 108212288 [T/C] NM_012328 DNAJB9 EXON Missense_R40C exm650702 7 108212298 [A/G] NM_012328 DNAJB9 EXON Missense_K43R exm650716 7 108213532 [A/G] NM_012328 DNAJB9 EXON Missense_R136H exm650719 7 108213585 [T/C] NM_012328 DNAJB9 EXON Missense_H154Y exm2244842 7 108213790 [T/G] NM_012328 DNAJB9 EXON Missense_G222V exm2270667 7 108258793 [T/C] exm2266557 7 108455345 [A/G] exm650733 7 108524090 [A/G] NM_001024607 C7orf66 EXON Missense_S108P exm650743 7 108524528 [T/C] NM_001024607 C7orf66 EXON Missense_H21R exm2264247 7 108720580 [A/C] exm2266460 7 109297612 [A/G] exm2270778 7 109554669 [T/C] exm2270668 7 110031342 [T/C] exm-rs6968385 7 110047471 [T/C] exm-rs4730430 7 110047964 [T/C] exm2266461 7 110236649 [A/G] exm-rs10279573 7 110467221 [T/C] NM_001244606,NM_032549 IMMP2L,IMMP2L Silent,Silent exm-rs12531640 7 110479535 [T/G] NM_001244606,NM_032549 IMMP2L,IMMP2L Silent,Silent exm650754 7 110526714 [A/G] NM_001244606,NM_032549 IMMP2L,IMMP2L EXON Missense_R115C,Missense_R115C exm650755 7 110526722 [T/C] NM_001244606,NM_032549 IMMP2L,IMMP2L EXON Missense_K112R,Missense_K112R exm650762 7 110762841 [A/C] NM_001244606,NM_032549,NM_018334,NM_001099658,NM_001099660 IMMP2L,IMMP2L,LRRN3,LRRN3,LRRN3 EXON Silent,Silent,Missense_P5T,Missense_P5T,Missense_P5T exm650764 7 110762899 [A/G] NM_001244606,NM_032549,NM_018334,NM_001099658,NM_001099660 IMMP2L,IMMP2L,LRRN3,LRRN3,LRRN3 EXON Silent,Silent,Missense_D24G,Missense_D24G,Missense_D24G exm650766 7 110762920 [A/G] NM_001244606,NM_032549,NM_018334,NM_001099658,NM_001099660 IMMP2L,IMMP2L,LRRN3,LRRN3,LRRN3 EXON Silent,Silent,Missense_R31Q,Missense_R31Q,Missense_R31Q exm2136582 7 110763094 [A/C] NM_001244606,NM_032549,NM_018334,NM_001099658,NM_001099660 IMMP2L,IMMP2L,LRRN3,LRRN3,LRRN3 EXON Silent,Silent,Missense_D89A,Missense_D89A,Missense_D89A exm650794 7 110763811 [A/G] NM_001244606,NM_032549,NM_018334,NM_001099658,NM_001099660 IMMP2L,IMMP2L,LRRN3,LRRN3,LRRN3 EXON Silent,Silent,Missense_N328S,Missense_N328S,Missense_N328S exm650808 7 110764108 [A/G] NM_001244606,NM_032549,NM_018334,NM_001099658,NM_001099660 IMMP2L,IMMP2L,LRRN3,LRRN3,LRRN3 EXON Silent,Silent,Missense_S427N,Missense_S427N,Missense_S427N exm650820 7 110764357 [T/C] NM_001244606,NM_032549,NM_018334,NM_001099658,NM_001099660 IMMP2L,IMMP2L,LRRN3,LRRN3,LRRN3 EXON Silent,Silent,Missense_M510T,Missense_M510T,Missense_M510T exm650827 7 110764537 [A/G] NM_001244606,NM_032549,NM_018334,NM_001099658,NM_001099660 IMMP2L,IMMP2L,LRRN3,LRRN3,LRRN3 EXON Silent,Silent,Missense_R570Q,Missense_R570Q,Missense_R570Q exm650834 7 110764681 [A/C] NM_001244606,NM_032549,NM_018334,NM_001099658,NM_001099660 IMMP2L,IMMP2L,LRRN3,LRRN3,LRRN3 EXON Silent,Silent,Missense_Q618P,Missense_Q618P,Missense_Q618P exm650839 7 110764837 [A/C] NM_001244606,NM_032549,NM_018334,NM_001099658,NM_001099660 IMMP2L,IMMP2L,LRRN3,LRRN3,LRRN3 EXON Silent,Silent,Missense_T670N,Missense_T670N,Missense_T670N exm650844 7 110764930 [T/C] NM_001244606,NM_032549,NM_018334,NM_001099658,NM_001099660 IMMP2L,IMMP2L,LRRN3,LRRN3,LRRN3 EXON Silent,Silent,Missense_I701T,Missense_I701T,Missense_I701T exm2266462 7 110843795 [A/G] NM_001244606,NM_032549 IMMP2L,IMMP2L Silent,Silent exm2270669 7 111317219 [T/C] exm650867 7 111368454 [A/G] NM_014705 DOCK4 EXON Missense_S1926L exm650874 7 111368500 [A/G] NM_014705 DOCK4 EXON Missense_R1911W exm2136633 7 111368578 [G/C] NM_014705 DOCK4 EXON Missense_P1885A exm650889 7 111368767 [T/G] NM_014705 DOCK4 EXON Missense_Q1822K exm650893 7 111372317 [A/C] NM_014705 DOCK4 EXON Missense_V1807L exm650895 7 111372325 [A/G] NM_014705 DOCK4 EXON Missense_T1804M exm650898 7 111375137 [C/G] NM_014705 DOCK4 EXON Missense_P1789A exm650907 7 111379198 [C/G] NM_014705 DOCK4 EXON Missense_P1733A exm650914 7 111382099 [T/G] NM_014705 DOCK4 EXON Missense_F1580L exm2136666 7 111382130 [T/C] NM_014705 DOCK4 EXON Missense_R1570K exm650923 7 111387340 [T/C] NM_014705 DOCK4 EXON Missense_V1517I exm650952 7 111409724 [T/C] NM_014705 DOCK4 EXON Missense_Y1221C exm2266558 7 111426682 [A/G] NM_014705 DOCK4 Silent exm650965 7 111430652 [T/C] NM_014705 DOCK4 EXON Missense_K1059R exm650966 7 111430661 [T/C] NM_014705 DOCK4 EXON Missense_G1056E exm650988 7 111487098 [T/C] NM_014705 DOCK4 EXON Missense_R853H exm651007 7 111512581 [T/C] NM_014705 DOCK4 EXON Missense_D595G exm651016 7 111517227 [T/C] NM_014705 DOCK4 EXON Missense_N535D exm2258064 7 111540494 [T/C] NM_014705 DOCK4 EXON Synonymous_K472K exm651033 7 111575683 [T/C] NM_014705 DOCK4 EXON Missense_M326I exm651034 7 111580166 [T/C] NM_014705 DOCK4 EXON Missense_M326V exm651044 7 111585797 [A/G] NM_014705 DOCK4 EXON Missense_P253L exm651054 7 111617307 [A/G] NM_014705 DOCK4 EXON Missense_P194L exm651059 7 111629104 [A/G] NM_014705 DOCK4 EXON Missense_R144C exm651065 7 111629217 [T/C] NM_014705 DOCK4 EXON Missense_R106H exm651066 7 111629218 [A/G] NM_014705 DOCK4 EXON Missense_R106C exm651068 7 111638537 [T/C] NM_014705 DOCK4 EXON Missense_V62I exm651075 7 111644156 [T/C] NM_014705 DOCK4 EXON Missense_Y23C exm2136739 7 111644163 [T/C] NM_014705 DOCK4 EXON Missense_V21I exm2258065 7 111732556 [A/G] NM_014705 DOCK4 Silent exm651080 7 111846171 [T/G] NM_014705 DOCK4 EXON Missense_E8A exm651101 7 111935948 [T/G] NM_021994 ZNF277 EXON Missense_R106S exm651102 7 111935962 [A/C] NM_021994 ZNF277 EXON Missense_P111H exm651103 7 111936283 [T/G] NM_021994 ZNF277 Silent exm2136762 7 111958280 [A/G] NM_021994 ZNF277 EXON Missense_N170S exm651109 7 111958291 [A/G] NM_021994 ZNF277 EXON Missense_V174I exm651111 7 111958309 [T/G] NM_021994 ZNF277 EXON Nonsense_E180X exm651120 7 111970228 [G/C] NM_021994 ZNF277 EXON Missense_P253R exm651128 7 111977860 [T/G] NM_021994 ZNF277 EXON Missense_E315D exm651131 7 111979919 [T/C] NM_021994 ZNF277 EXON Missense_L330F exm2258066 7 111980937 [T/C] NM_021994 ZNF277 EXON Synonymous_F340F exm651140 7 111981007 [A/G] NM_021994 ZNF277 EXON Missense_V364M exm651144 7 111981065 [T/C] NM_021994 ZNF277 EXON Missense_S383L exm-rs17159640 7 112086333 [A/T] NM_001197080,NM_001007245 IFRD1,IFRD1 Silent,Silent exm2270670 7 112087033 [T/C] NM_001197080,NM_001007245 IFRD1,IFRD1 Silent,Silent exm651150 7 112090748 [T/C] NM_001197080,NM_001007245,NM_001550 IFRD1,IFRD1,IFRD1 EXON Silent,Missense_P2L,Missense_P2L exm651169 7 112097064 [T/C] NM_001197080,NM_001007245,NM_001550,NM_001197079 IFRD1,IFRD1,IFRD1,IFRD1 EXON Missense_T77I,Missense_T127I,Missense_T127I,Missense_T77I exm651170 7 112097088 [A/G] NM_001197080,NM_001007245,NM_001550,NM_001197079 IFRD1,IFRD1,IFRD1,IFRD1 EXON Missense_K85R,Missense_K135R,Missense_K135R,Missense_K85R exm651179 7 112099020 [A/G] NM_001197080,NM_001007245,NM_001550,NM_001197079 IFRD1,IFRD1,IFRD1,IFRD1 EXON Missense_I122V,Missense_I172V,Missense_I172V,Missense_I122V exm651192 7 112102071 [C/G] NM_001197080,NM_001007245,NM_001550,NM_001197079 IFRD1,IFRD1,IFRD1,IFRD1 EXON Missense_L162V,Missense_L212V,Missense_L212V,Missense_L162V exm651206 7 112108105 [A/C] NM_001197080,NM_001007245,NM_001550,NM_001197079 IFRD1,IFRD1,IFRD1,IFRD1 EXON Missense_H276N,Missense_H326N,Missense_H326N,Missense_H276N exm651217 7 112112882 [T/C] NM_001197080,NM_001007245,NM_001550,NM_001197079 IFRD1,IFRD1,IFRD1,IFRD1 EXON Missense_T361M,Missense_T411M,Missense_T411M,Missense_T361M exm2244855 7 112112891 [T/C] NM_001197080,NM_001007245,NM_001550,NM_001197079 IFRD1,IFRD1,IFRD1,IFRD1 EXON Missense_T364M,Missense_T414M,Missense_T414M,Missense_T364M exm651223 7 112115540 [A/G] NM_001197080,NM_001007245,NM_001550,NM_001197079 IFRD1,IFRD1,IFRD1,IFRD1 EXON Missense_R391Q,Missense_R441Q,Missense_R441Q,Missense_R391Q exm651229 7 112124984 [T/C] NM_001134468,NM_182597 C7orf53,C7orf53 EXON Missense_S38L,Missense_S38L exm651244 7 112129991 [T/C] NM_001134468,NM_182597 C7orf53,C7orf53 EXON Missense_S128F,Missense_S128F exm2266559 7 112318992 [A/G] exm651252 7 112407371 [T/C] NM_022484 TMEM168 EXON Missense_G659S exm651258 7 112407502 [A/T] NM_022484 TMEM168 EXON Missense_V615E exm651262 7 112407601 [A/G] NM_022484 TMEM168 EXON Missense_P582L exm651263 7 112407616 [A/G] NM_022484 TMEM168 EXON Missense_I577T exm651266 7 112407697 [A/G] NM_022484 TMEM168 EXON Missense_T550I exm651274 7 112412892 [A/G] NM_022484 TMEM168 EXON Missense_T497M exm2136825 7 112415316 [T/C] NM_022484 TMEM168 EXON Missense_A396T exm651289 7 112423847 [T/G] NM_022484 TMEM168 EXON Missense_A345E exm651292 7 112424037 [T/C] NM_022484 TMEM168 EXON Missense_A282T exm651306 7 112424468 [C/G] NM_022484 TMEM168 EXON Missense_S138C exm651308 7 112424474 [A/G] NM_022484 TMEM168 EXON Missense_L136S exm651310 7 112424547 [A/C] NM_022484 TMEM168 EXON Missense_S112A exm651320 7 112424814 [T/C] NM_022484 TMEM168 EXON Missense_V23I exm651321 7 112424829 [T/A] NM_022484 TMEM168 EXON Missense_T18S exm651351 7 112579723 [T/G] NM_152556 C7orf60 EXON Missense_E28A exm651352 7 112579733 [A/G] NM_152556 C7orf60 EXON Missense_R25W exm-rs10229603 7 112628373 [T/C] exm-rs10953730 7 112911410 [A/G] exm-rs1917043 7 112930495 [A/G] exm2266465 7 113141308 [A/G] exm2270780 7 113294567 [T/C] exm2266466 7 113315926 [A/G] exm651388 7 113517843 [T/C] NM_002711 PPP1R3A EXON Missense_V1102I exm651389 7 113517863 [A/G] NM_002711 PPP1R3A EXON Missense_M1095T exm651390 7 113517887 [A/C] NM_002711 PPP1R3A EXON Missense_I1087R exm651391 7 113517888 [T/C] NM_002711 PPP1R3A EXON Missense_I1087V exm651392 7 113517999 [A/C] NM_002711 PPP1R3A EXON Missense_A1050S exm651395 7 113518037 [G/C] NM_002711 PPP1R3A EXON Nonsense_S1037X exm651397 7 113518103 [T/C] NM_002711 PPP1R3A EXON Missense_N1015S exm651398 7 113518157 [A/C] NM_002711 PPP1R3A EXON Missense_F997C exm651403 7 113518262 [T/C] NM_002711 PPP1R3A EXON Missense_G962D exm651408 7 113518355 [T/G] NM_002711 PPP1R3A EXON Missense_A931E exm651414 7 113518424 [A/C] NM_002711 PPP1R3A EXON Missense_R908I exm651417 7 113518434 [A/C] NM_002711 PPP1R3A EXON Missense_D905Y exm651420 7 113518498 [A/C] NM_002711 PPP1R3A EXON Missense_R883S exm651421 7 113518502 [A/T] NM_002711 PPP1R3A EXON Missense_L882H exm651428 7 113518665 [G/C] NM_002711 PPP1R3A EXON Missense_P828A exm651432 7 113518709 [T/C] NM_002711 PPP1R3A EXON Missense_R813H exm651433 7 113518710 [A/G] NM_002711 PPP1R3A EXON Missense_R813C exm651439 7 113518832 [A/G] NM_002711 PPP1R3A EXON Missense_A772V exm651441 7 113518880 [A/G] NM_002711 PPP1R3A EXON Missense_P756L exm651448 7 113519025 [T/C] NM_002711 PPP1R3A EXON Missense_T708A exm651457 7 113519232 [A/C] NM_002711 PPP1R3A EXON Missense_G639C exm651458 7 113519267 [T/C] NM_002711 PPP1R3A EXON Missense_R627K exm651459 7 113519312 [T/C] NM_002711 PPP1R3A EXON Missense_G612E exm651464 7 113519433 [T/C] NM_002711 PPP1R3A EXON Missense_I572V exm2136883 7 113519666 [A/G] NM_002711 PPP1R3A EXON Missense_S494L exm651473 7 113519686 [A/T] NM_002711 PPP1R3A EXON Missense_R487S exm651474 7 113519719 [T/A] NM_002711 PPP1R3A EXON Missense_N476K exm651475 7 113519721 [T/C] NM_002711 PPP1R3A EXON Missense_N476D exm651478 7 113519796 [T/C] NM_002711 PPP1R3A EXON Missense_V451M exm651483 7 113519930 [T/G] NM_002711 PPP1R3A EXON Missense_E406A exm651485 7 113519964 [A/C] NM_002711 PPP1R3A EXON Missense_S395A exm2136888 7 113520141 [T/C] NM_002711 PPP1R3A EXON Missense_R336G exm651493 7 113558339 [A/G] NM_002711 PPP1R3A EXON Missense_P238L exm651494 7 113558424 [A/G] NM_002711 PPP1R3A EXON Missense_R210C exm651500 7 113558634 [T/C] NM_002711 PPP1R3A EXON Missense_T140A exm651511 7 113558919 [T/C] NM_002711 PPP1R3A EXON Missense_G45S exm651512 7 113558921 [T/C] NM_002711 PPP1R3A EXON Missense_R44Q exm651513 7 113558945 [T/C] NM_002711 PPP1R3A EXON Missense_G36D exm2266467 7 113963334 [A/G] NR_033766 FOXP2 Silent exm651521 7 114066616 [T/A] NR_033766,NM_014491,NM_148900,NM_148898,NR_033767,NM_001172766,NM_001172767,NM_148899 FOXP2,FOXP2,FOXP2,FOXP2,FOXP2,FOXP2,FOXP2,FOXP2 EXON Silent,Missense_Q17L,Missense_Q17L,Missense_Q17L,Silent,Missense_Q17L,Missense_Q17L,Missense_Q17L exm2270671 7 114074257 [T/C] NR_033766,NM_014491,NM_148900,NM_148898,NR_033767,NM_001172766,NM_001172767,NM_148899 FOXP2,FOXP2,FOXP2,FOXP2,FOXP2,FOXP2,FOXP2,FOXP2 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm651560 7 114282581 [T/G] NR_033766,NM_014491,NM_148900,NM_148898,NR_033767,NM_001172766,NM_001172767,NM_148899 FOXP2,FOXP2,FOXP2,FOXP2,FOXP2,FOXP2,FOXP2,FOXP2 EXON Silent,Missense_S298A,Missense_S315A,Missense_S323A,Silent,Missense_S297A,Missense_S323A,Missense_S298A exm651584 7 114298313 [A/G] NR_033766,NM_014491,NM_148900,NM_148898,NR_033767,NM_001172766 FOXP2,FOXP2,FOXP2,FOXP2,FOXP2,FOXP2 EXON Silent,Missense_M487V,Missense_M504V,Missense_M512V,Silent,Missense_M486V exm2244863 7 114304331 [A/G] NR_033766,NM_014491,NM_148900,NM_148898,NR_033767,NM_001172766 FOXP2,FOXP2,FOXP2,FOXP2,FOXP2,FOXP2 EXON Silent,Missense_A615T,Missense_A632T,Missense_A640T,Silent,Missense_A614T exm651596 7 114304425 [A/G] NR_033766,NM_014491,NM_148900,NM_148898,NR_033767,NM_001172766 FOXP2,FOXP2,FOXP2,FOXP2,FOXP2,FOXP2 EXON Silent,Missense_N646S,Missense_N663S,Missense_N671S,Silent,Missense_N645S exm651602 7 114329933 [A/T] NR_033766,NM_014491,NM_148900,NM_148898,NR_033767,NM_001172766 FOXP2,FOXP2,FOXP2,FOXP2,FOXP2,FOXP2 EXON Silent,Missense_E700D,Missense_E717D,Missense_E725D,Silent,Missense_E699D exm2262218 7 114435347 [T/C] exm651625 7 114582393 [T/A] NM_001166345,NM_199072 MDFIC,MDFIC EXON Missense_H53L,Missense_H162L exm651626 7 114582402 [A/T] NM_001166345,NM_199072 MDFIC,MDFIC EXON Missense_M56K,Missense_M165K exm651628 7 114582414 [T/C] NM_001166345,NM_199072 MDFIC,MDFIC EXON Missense_S60F,Missense_S169F exm651630 7 114582437 [T/G] NM_001166345,NM_199072 MDFIC,MDFIC EXON Missense_G68C,Missense_G177C exm2258073 7 114619598 [A/C] NM_001166345,NM_199072 MDFIC,MDFIC EXON Synonymous_A85A,Synonymous_A194A exm651640 7 114619689 [A/G] NM_001166345,NM_199072 MDFIC,MDFIC EXON Missense_G116R,Missense_G225R exm651642 7 114619695 [A/G] NM_001166345,NM_199072 MDFIC,MDFIC EXON Missense_A118T,Missense_A227T exm651645 7 114619719 [T/C] NM_001166345,NM_199072 MDFIC,MDFIC EXON Missense_P126S,Missense_P235S exm651646 7 114619791 [A/G] NM_001166345,NM_199072 MDFIC,MDFIC EXON Missense_K150E,Missense_K259E exm651650 7 114655780 [A/G] NM_001166345,NM_199072 MDFIC,MDFIC EXON Missense_E178K,Missense_E287K exm651655 7 114655844 [A/C] NM_001166345,NM_199072 MDFIC,MDFIC EXON Missense_A199D,Missense_A308D exm651658 7 114655970 [A/G] NM_001166345,NM_199072 MDFIC,MDFIC EXON Missense_G241E,Missense_G350E exm2266468 7 114783083 [A/G] exm2258074 7 114924344 [T/C] exm2270782 7 115327840 [T/C] exm2277335 7 115582091 [A/G] NM_001244583,NM_001018058,NM_012252 TFEC,TFEC,TFEC EXON Synonymous_D106D,Synonymous_D144D,Synonymous_D173D exm2137014 7 115590928 [A/G] NM_001244583,NM_001018058,NM_012252 TFEC,TFEC,TFEC EXON Missense_P105L,Missense_P143L,Missense_P172L exm651683 7 115596817 [T/C] NM_001244583,NM_001018058,NM_012252 TFEC,TFEC,TFEC EXON Missense_G33S,Missense_G71S,Missense_G100S exm651690 7 115624369 [A/G] NM_001018058,NM_012252 TFEC,TFEC EXON Missense_P43S,Missense_P43S exm651693 7 115624396 [T/C] NM_001018058,NM_012252 TFEC,TFEC EXON Missense_D34N,Missense_D34N exm651697 7 115624478 [C/G] NM_001018058,NM_012252 TFEC,TFEC EXON Missense_Q6H,Missense_Q6H exm2270673 7 115654075 [T/C] NM_001018058,NM_012252 TFEC,TFEC Silent,Silent exm2137039 7 115874657 [A/G] NM_015641,NM_152829 TES,TES EXON Missense_E33K,Missense_E24K exm651712 7 115889084 [T/C] NM_015641,NM_152829 TES,TES EXON Missense_R42C,Missense_R33C exm651718 7 115889214 [T/C] NM_015641,NM_152829 TES,TES EXON Missense_P85L,Missense_P76L exm651720 7 115889225 [T/C] NM_015641,NM_152829 TES,TES EXON Missense_R89C,Missense_R80C exm651722 7 115889259 [G/C] NM_015641,NM_152829 TES,TES EXON Missense_A100G,Missense_A91G exm651723 7 115889313 [A/G] NM_015641,NM_152829 TES,TES EXON Missense_Q118R,Missense_Q109R exm651734 7 115890509 [T/G] NM_015641,NM_152829 TES,TES EXON Missense_A221S,Missense_A212S exm651735 7 115890510 [T/C] NM_015641,NM_152829 TES,TES EXON Missense_A221V,Missense_A212V exm651752 7 115892525 [A/G] NM_015641,NM_152829 TES,TES EXON Missense_A358T,Missense_A349T exm2270674 7 115897242 [T/G] NM_015641,NM_152829 TES,TES Silent,Silent exm651757 7 115897406 [A/G] NM_015641,NM_152829 TES,TES EXON Missense_N379S,Missense_N370S exm-rs2896181 7 115897884 [T/C] NM_015641,NM_152829 TES,TES EXON Silent,Silent exm651774 7 116140419 [A/G] NM_001206747,NM_001233,NM_198212,NM_001206748 CAV2,CAV2,CAV2,CAV2 EXON Missense_K73E,Missense_K86E,Silent,Missense_K3E exm651780 7 116146074 [G/C] NM_001206747,NM_001233,NM_198212,NM_001206748 CAV2,CAV2,CAV2,CAV2 EXON Missense_Q117E,Missense_Q130E,Missense_A67G,Missense_Q47E exm651782 7 116146127 [T/C] NM_001206747,NM_001233,NM_198212,NM_001206748 CAV2,CAV2,CAV2,CAV2 EXON Synonymous_S134S,Synonymous_S147S,Missense_R85C,Synonymous_S64S exm651783 7 116146128 [A/G] NM_001206747,NM_001233,NM_198212,NM_001206748 CAV2,CAV2,CAV2,CAV2 EXON Missense_V135I,Missense_V148I,Missense_R85H,Missense_V65I exm651785 7 116146170 [A/G] NM_001206747,NM_001233,NM_198212,NM_001206748 CAV2,CAV2,CAV2,CAV2 EXON Missense_D149N,Missense_D162N,Missense_G99E,Missense_D79N exm-rs4236601 7 116162729 [A/G] exm651800 7 116166602 [C/G] NM_001753,NM_001172895,NM_001172896,NM_001172897 CAV1,CAV1,CAV1,CAV1 EXON Missense_I18M,Silent,Silent,Silent exm-rs3807989 7 116186241 [A/G] NM_001753,NM_001172895,NM_001172896,NM_001172897 CAV1,CAV1,CAV1,CAV1 Silent,Silent,Silent,Silent exm651821 7 116199252 [A/G] NM_001753,NM_001172895,NM_001172896,NM_001172897 CAV1,CAV1,CAV1,CAV1 EXON Missense_I150V,Missense_I119V,Missense_I119V,Missense_I119V exm651822 7 116199267 [A/G] NM_001753,NM_001172895,NM_001172896,NM_001172897 CAV1,CAV1,CAV1,CAV1 EXON Missense_V155I,Missense_V124I,Missense_V124I,Missense_V124I exm651823 7 116199291 [G/C] NM_001753,NM_001172895,NM_001172896,NM_001172897 CAV1,CAV1,CAV1,CAV1 EXON Missense_V163L,Missense_V132L,Missense_V132L,Missense_V132L exm2262220 7 116292034 [T/C] exm651831 7 116339209 [A/G] NM_000245,NM_001127500 MET,MET EXON Missense_G24E,Missense_G24E exm651840 7 116339427 [C/G] NM_000245,NM_001127500 MET,MET EXON Missense_P97A,Missense_P97A exm651842 7 116339544 [A/G] NM_000245,NM_001127500 MET,MET EXON Missense_V136I,Missense_V136I exm651844 7 116339605 [T/C] NM_000245,NM_001127500 MET,MET EXON Missense_S156L,Missense_S156L exm651845 7 116339642 [T/G] NM_000245,NM_001127500 MET,MET EXON Missense_E168D,Missense_E168D exm651857 7 116340039 [A/G] NM_000245,NM_001127500 MET,MET EXON Missense_T301A,Missense_T301A exm651859 7 116340086 [A/G] NM_000245,NM_001127500 MET,MET EXON Missense_I316M,Missense_I316M exm651860 7 116340097 [T/C] NM_000245,NM_001127500 MET,MET EXON Missense_A320V,Missense_A320V exm651862 7 116340105 [A/G] NM_000245,NM_001127500 MET,MET EXON Missense_S323G,Missense_S323G exm651864 7 116340177 [A/G] NM_000245,NM_001127500 MET,MET EXON Missense_A347T,Missense_A347T exm651865 7 116340214 [A/G] NM_000245,NM_001127500 MET,MET EXON Missense_R359Q,Missense_R359Q exm651866 7 116340223 [T/C] NM_000245,NM_001127500 MET,MET EXON Missense_M362T,Missense_M362T exm651869 7 116340262 [A/G] NM_000245,NM_001127500 MET,MET EXON Missense_N375S,Missense_N375S exm-rs10243024 7 116346603 [A/G] NM_000245,NM_001127500 MET,MET Silent,Silent exm-rs38855 7 116358044 [A/G] NM_000245,NM_001127500 MET,MET Silent,Silent exm651889 7 116395422 [A/G] NM_000245,NM_001127500 MET,MET EXON Missense_S572N,Missense_S572N exm2137103 7 116398608 [T/C] NM_000245,NM_001127500 MET,MET EXON Missense_T733I,Missense_T733I exm651921 7 116403117 [A/G] NM_000245,NM_001127500 MET,MET EXON Missense_R793H,Missense_R811H exm651929 7 116403287 [A/G] NM_000245,NM_001127500 MET,MET EXON Missense_I850V,Missense_I868V exm651932 7 116409777 [T/C] NM_000245,NM_001127500 MET,MET EXON Missense_H888Y,Missense_H906Y exm651934 7 116409799 [T/C] NM_000245,NM_001127500 MET,MET EXON Missense_T895M,Missense_T913M exm651943 7 116411923 [T/C] NM_000245,NM_001127500 MET,MET EXON Missense_R970C,Missense_R988C exm651944 7 116411990 [T/C] NM_000245,NM_001127500 MET,MET EXON Missense_T992I,Missense_T1010I exm651954 7 116418986 [A/G] NM_000245,NM_001127500 MET,MET EXON Missense_R1166Q,Missense_R1184Q exm651957 7 116419011 [T/C] NM_000245,NM_001127500 MET,MET EXON Synonymous_H1174H,Synonymous_H1192H exm2244873 7 116436092 [A/G] NM_000245,NM_001127500 MET,MET EXON Missense_A1363T,Missense_A1381T exm651997 7 116544293 [C/G] NM_006136 CAPZA2 EXON Missense_I94M exm652005 7 116550321 [A/G] NM_006136 CAPZA2 EXON Missense_I181V exm652006 7 116550333 [A/G] NM_006136 CAPZA2 EXON Missense_T185A exm652008 7 116552181 [C/G] NM_006136 CAPZA2 EXON Missense_S215C exm-rs7782376 7 116577124 [A/G] exm652015 7 116593611 [C/G] NR_002330,NM_018412,NM_021908 ST7-AS1,ST7,ST7 EXON Silent,Missense_T6R,Missense_T6R exm2270675 7 116645880 [T/C] NM_018412,NM_021908 ST7,ST7 Silent,Silent exm652044 7 116770651 [A/G] NM_018412,NM_021908,NR_002331 ST7,ST7,ST7-AS2 EXON Missense_A186T,Missense_A186T,Silent exm652049 7 116774222 [T/C] NM_018412,NM_021908,NR_002331 ST7,ST7,ST7-AS2 EXON Silent,Missense_I229T,Silent exm652057 7 116778555 [A/G] NM_018412,NM_021908,NR_002331 ST7,ST7,ST7-AS2 EXON Missense_R288K,Missense_R311K,Silent exm652081 7 116862976 [T/G] NM_018412,NM_021908 ST7,ST7 EXON Silent,Missense_R567L exm652082 7 116862996 [A/G] NM_018412,NM_021908 ST7,ST7 EXON Silent,Missense_I574V exm652083 7 116863003 [T/C] NM_018412,NM_021908 ST7,ST7 EXON Silent,Missense_P576L exm652088 7 116863033 [T/G] NM_018412,NM_021908 ST7,ST7 EXON Silent,Missense_X586L exm652100 7 116918235 [T/C] NR_024047,NM_003391 WNT2,WNT2 EXON Silent,Missense_N353D exm652102 7 116918288 [T/C] NR_024047,NM_003391 WNT2,WNT2 EXON Silent,Missense_R335H exm652106 7 116918397 [A/G] NR_024047,NM_003391 WNT2,WNT2 EXON Silent,Missense_R299W exm2270676 7 116943135 [T/C] NR_024047,NM_003391 WNT2,WNT2 Silent,Silent exm652119 7 116955207 [T/C] NR_024047,NM_003391 WNT2,WNT2 EXON Silent,Missense_R169H exm652121 7 116955306 [G/C] NR_024047,NM_003391 WNT2,WNT2 EXON Silent,Missense_S136C exm2137213 7 116960720 [T/C] NR_024047,NM_003391 WNT2,WNT2 EXON Silent,Missense_E71K exm652137 7 116962978 [A/C] NR_024047,NM_003391 WNT2,WNT2 EXON Silent,Missense_E22D exm652139 7 116963030 [A/C] NR_024047,NM_003391 WNT2,WNT2 EXON Silent,Missense_L5R exm652142 7 117003694 [T/C] NM_130768,NR_023315 ASZ1,ASZ1 EXON Missense_G462S,Silent exm652143 7 117003695 [T/G] NM_130768,NR_023315 ASZ1,ASZ1 EXON Missense_F461L,Silent exm652159 7 117021106 [A/T] NM_130768,NR_023315 ASZ1,ASZ1 EXON Missense_L302I,Silent exm652166 7 117024820 [T/G] NM_130768,NR_023315 ASZ1,ASZ1 EXON Missense_K216T,Silent exm652177 7 117060269 [T/C] NM_130768,NR_023315 ASZ1,ASZ1 EXON Missense_K130E,Silent exm652182 7 117062332 [T/C] NM_130768,NR_023315 ASZ1,ASZ1 EXON Missense_R96Q,Silent exm652197 7 117066989 [T/C] NM_130768,NR_023315 ASZ1,ASZ1 EXON Missense_K36E,Silent exm652201 7 117067435 [A/G] NM_130768,NR_023315 ASZ1,ASZ1 EXON Missense_I27T,Silent exm-rs7808424 7 117067822 [T/G] exm652210 7 117120179 [A/G] NM_000492 CFTR EXON Missense_V11I exm652215 7 117144344 [T/C] NM_000492 CFTR EXON Missense_R31C exm652217 7 117144378 [T/C] NM_000492 CFTR EXON Missense_S42F exm652226 7 117149143 [T/C] NM_000492 CFTR EXON Missense_R74W exm652227 7 117149144 [A/G] NM_000492 CFTR EXON Missense_R74Q exm652228 7 117149147 [A/G] NM_000492 CFTR EXON Missense_R75Q exm652229 7 117149177 [A/G] NM_000492 CFTR EXON Missense_G85E exm652233 7 117171028 [T/C] NM_000492 CFTR EXON Missense_R117C exm652234 7 117171029 [A/G] NM_000492 CFTR EXON Missense_R117H exm652235 7 117171037 [A/G] NM_000492 CFTR EXON Missense_A120T exm2137247 7 117171053 [T/C] NM_000492 CFTR EXON Missense_I125T exm652236 7 117171097 [T/C] NM_000492 CFTR EXON Missense_P140S exm652238 7 117171122 [T/C] NM_000492 CFTR EXON Missense_I148T exm652241 7 117171169 [T/G] NM_000492 CFTR Silent exm652243 7 117174330 [A/G] NM_000492 CFTR EXON Missense_T164A exm652244 7 117174349 [A/G] NM_000492 CFTR EXON Missense_R170H exm652253 7 117175339 [T/G] NM_000492 CFTR EXON Missense_L206W exm652254 7 117175372 [A/G] NM_000492 CFTR EXON Missense_E217G exm652260 7 117176704 [T/A] NM_000492 CFTR EXON Missense_E282D exm652261 7 117176711 [T/A] NM_000492 CFTR EXON Missense_I285F exm652264 7 117180174 [A/G] NM_000492 CFTR EXON Missense_R297Q exm652267 7 117180186 [A/G] NM_000492 CFTR EXON Missense_Y301C exm652270 7 117180242 [T/G] NM_000492 CFTR EXON Missense_L320V exm652277 7 117180297 [T/C] NM_000492 CFTR EXON Missense_T338I exm652283 7 117180363 [T/C] NM_000492 CFTR EXON Missense_T360I exm652286 7 117182078 [A/C] NM_000492 CFTR EXON Missense_L375F exm652308 7 117199524 [T/C] NM_000492 CFTR EXON Missense_L467F exm652311 7 117199533 [A/G] NM_000492 CFTR EXON Missense_V470M exm652312 7 117199554 [T/C] NM_000492 CFTR EXON Missense_P477S exm652318 7 117199641 [A/G] NM_000492 CFTR EXON Missense_I506V exm652320 7 117199648 [T/G] NM_000492 CFTR EXON Missense_F508C exm652322 7 117199683 [A/G] NM_000492 CFTR EXON Missense_V520I exm652327 7 117199709 [A/G] NM_000492 CFTR EXON Synonymous_E528E exm652329 7 117227792 [A/G] NM_000492 CFTR Silent exm652331 7 117227832 [T/G] NM_000492 CFTR EXON Nonsense_G542X exm652335 7 117227860 [A/G] NM_000492 CFTR EXON Missense_G551D exm652336 7 117227865 [T/C] NM_000492 CFTR EXON Nonsense_R553X exm652337 7 117227874 [A/G] NM_000492 CFTR EXON Missense_I556V exm652339 7 117227887 [C/G] NM_000492 CFTR EXON Missense_R560T exm2275970 7 117230411 [A/G] NM_000492 CFTR EXON Missense_V562I exm652342 7 117230454 [G/C] NM_000492 CFTR EXON Missense_G576A exm652357 7 117232223 [T/C] NM_000492 CFTR EXON Missense_R668C exm652361 7 117232300 [T/G] NM_000492 CFTR EXON Missense_F693L exm652366 7 117232394 [A/G] NM_000492 CFTR EXON Missense_E725K exm652371 7 117232470 [T/C] NM_000492 CFTR EXON Missense_P750L exm652372 7 117232481 [A/G] NM_000492 CFTR EXON Missense_V754M exm652380 7 117232642 [A/G] NM_000492 CFTR EXON Missense_I807M exm652384 7 117232712 [A/G] NM_000492 CFTR Silent exm652385 7 117234995 [T/G] NM_000492 CFTR EXON Missense_F834L exm652386 7 117234999 [T/G] NM_000492 CFTR EXON Missense_D836Y exm2274271 7 117243612 [A/G] NM_000492 CFTR EXON Missense_S895N exm652401 7 117243663 [T/C] NM_000492 CFTR EXON Missense_S912L exm652403 7 117243667 [T/A] NM_000492 CFTR EXON Nonsense_Y913X exm652411 7 117243783 [T/C] NM_000492 CFTR EXON Missense_M952T exm652416 7 117243828 [T/C] NM_000492 CFTR EXON Missense_L967S exm652422 7 117246808 [A/G] NM_000492 CFTR Silent exm652423 7 117250575 [G/C] NM_000492 CFTR EXON Missense_L997F exm652426 7 117250625 [A/G] NM_000492 CFTR EXON Missense_Y1014C exm652428 7 117250664 [T/C] NM_000492 CFTR EXON Missense_I1027T exm652431 7 117251649 [T/G] NM_000492 CFTR EXON Missense_F1052V exm652437 7 117251695 [T/C] NM_000492 CFTR EXON Missense_A1067V exm652439 7 117251700 [A/G] NM_000492 CFTR EXON Missense_G1069R exm2274272 7 117251784 [T/C] NM_000492 CFTR EXON Missense_R1097C exm652454 7 117254753 [C/G] NM_000492 CFTR EXON Missense_D1152H exm2137288 7 117254767 [T/G] NM_000492 CFTR EXON Missense_L1156F exm652457 7 117267591 [T/C] NM_000492 CFTR EXON Nonsense_R1162X exm652468 7 117267812 [T/G] NM_000492 CFTR EXON Missense_S1235R exm652473 7 117282582 [A/G] NM_000492 CFTR EXON Missense_D1270N exm652474 7 117282620 [A/G] NM_000492 CFTR EXON Nonsense_W1282X exm2137300 7 117304834 [G/C] NM_000492 CFTR EXON Missense_Q1352H exm652493 7 117307052 [A/G] NM_000492 CFTR EXON Missense_D1445N exm2244888 7 117307076 [T/C] NM_000492 CFTR EXON Missense_R1453W exm652500 7 117351696 [T/G] NM_033427 CTTNBP2 EXON Missense_R1629S exm652501 7 117351728 [T/G] NM_033427 CTTNBP2 EXON Missense_K1619Q exm652502 7 117351764 [A/G] NM_033427 CTTNBP2 EXON Missense_S1607P exm652504 7 117351826 [A/G] NM_033427 CTTNBP2 EXON Missense_P1586L exm652508 7 117358107 [T/C] NM_033427 CTTNBP2 EXON Missense_T1571A exm652519 7 117359689 [A/G] NM_033427 CTTNBP2 EXON Missense_S1505P exm652523 7 117364751 [T/C] NM_033427 CTTNBP2 EXON Missense_S1433G exm652525 7 117364779 [T/G] NM_033427 CTTNBP2 EXON Missense_D1423E exm652526 7 117365121 [T/G] NM_033427 CTTNBP2 EXON Missense_P1416T exm652528 7 117365160 [A/G] NM_033427 CTTNBP2 EXON Missense_L1403F exm652540 7 117368227 [T/C] NM_033427 CTTNBP2 EXON Missense_R1324H exm652542 7 117368252 [A/G] NM_033427 CTTNBP2 EXON Missense_R1316C exm652548 7 117368308 [A/G] NM_033427 CTTNBP2 EXON Missense_A1297V exm2137328 7 117375131 [A/G] NM_033427 CTTNBP2 EXON Missense_Y1238H exm652562 7 117375374 [A/C] NM_033427 CTTNBP2 EXON Missense_L1213V exm2137333 7 117385890 [A/C] NM_033427 CTTNBP2 EXON Missense_S1177I exm652565 7 117385978 [T/G] NM_033427 CTTNBP2 EXON Missense_Q1148K exm652568 7 117386141 [A/G] NM_033427 CTTNBP2 EXON Missense_H1121Y exm652571 7 117396664 [A/C] NM_033427 CTTNBP2 EXON Missense_S1098I exm652577 7 117398016 [A/G] NM_033427 CTTNBP2 EXON Missense_P1061S exm652585 7 117400548 [T/C] NM_033427 CTTNBP2 EXON Missense_N1038S exm652586 7 117400558 [T/C] NM_033427 CTTNBP2 EXON Missense_V1035M exm652589 7 117400603 [T/G] NM_033427 CTTNBP2 EXON Missense_H1020N exm652592 7 117400704 [G/C] NM_033427 CTTNBP2 EXON Missense_S986C exm652594 7 117407131 [C/G] NM_033427 CTTNBP2 EXON Missense_H960D exm652595 7 117407166 [T/C] NM_033427 CTTNBP2 EXON Missense_R948Q exm652596 7 117407169 [T/C] NM_033427 CTTNBP2 EXON Missense_N947S exm2270784 7 117416677 [T/C] NM_033427 CTTNBP2 Silent exm2137347 7 117417650 [T/G] NM_033427 CTTNBP2 EXON Missense_K898T exm652620 7 117424490 [T/G] NM_033427 CTTNBP2 EXON Missense_T696N exm652625 7 117431308 [C/G] NM_033427 CTTNBP2 EXON Missense_Q648E exm652634 7 117431524 [T/C] NM_033427 CTTNBP2 EXON Missense_G576R exm652644 7 117431755 [A/G] NM_033427 CTTNBP2 EXON Missense_F499L exm652652 7 117431971 [T/C] NM_033427 CTTNBP2 EXON Missense_S427G exm652653 7 117431973 [T/G] NM_033427 CTTNBP2 EXON Missense_H426P exm652675 7 117432453 [A/G] NM_033427 CTTNBP2 EXON Missense_I266T exm652677 7 117432510 [T/C] NM_033427 CTTNBP2 EXON Missense_R247Q exm652678 7 117432511 [A/G] NM_033427 CTTNBP2 EXON Missense_R247W exm652679 7 117432513 [T/G] NM_033427 CTTNBP2 EXON Missense_N246T exm652693 7 117450854 [T/C] NM_033427 CTTNBP2 EXON Missense_A127T exm2258082 7 117496144 [T/C] NM_033427 CTTNBP2 Silent exm652701 7 117501313 [T/C] NM_033427 CTTNBP2 EXON Missense_V47M exm652703 7 117501328 [A/G] NM_033427 CTTNBP2 EXON Missense_R42W exm2264248 7 117726480 [A/C] exm2244894 7 117864712 [A/C] NM_019644 ANKRD7 EXON Silent exm652743 7 117864949 [G/C] NM_019644 ANKRD7 EXON Missense_R22P exm2137387 7 117865028 [T/G] NM_019644 ANKRD7 EXON Missense_K48N exm2275972 7 117865028 [A/G] NM_019644 ANKRD7 EXON Synonymous_K48K exm652761 7 117874517 [A/G] NM_019644 ANKRD7 EXON Missense_H71R exm652766 7 117874831 [A/G] NM_019644 ANKRD7 EXON Missense_R124H exm652772 7 117876122 [A/G] NM_019644 ANKRD7 EXON Missense_V166I exm652774 7 117876926 [A/G] NM_019644 ANKRD7 EXON Missense_E220K exm652782 7 117879968 [T/C] NM_019644 ANKRD7 EXON Missense_Y240H exm2262222 7 118092961 [A/G] exm2270678 7 118402674 [T/G] exm2264249 7 118571442 [A/C] exm2270785 7 119313222 [T/C] exm2258087 7 119579473 [A/G] exm2270786 7 119659037 [T/C] exm2258088 7 119914755 [G/C] NM_012281 KCND2 EXON Synonymous_A23A exm652806 7 119915155 [A/G] NM_012281 KCND2 EXON Missense_A157T exm2258089 7 119915394 [T/C] NM_012281 KCND2 EXON Synonymous_C236C exm652814 7 119915432 [T/C] NM_012281 KCND2 EXON Missense_A249V exm2266471 7 120323727 [A/G] NM_012281 KCND2 Silent exm652839 7 120382604 [T/C] NM_012281 KCND2 EXON Missense_S472F exm652840 7 120382607 [C/G] NM_012281 KCND2 EXON Missense_S473T exm652856 7 120387757 [A/G] NM_012281 KCND2 EXON Missense_M580V exm652867 7 120428696 [T/C] NM_012338 TSPAN12 EXON Missense_T290A exm652868 7 120428731 [A/G] NM_012338 TSPAN12 EXON Missense_L278P exm652869 7 120428732 [T/G] NM_012338 TSPAN12 EXON Missense_L278M exm652872 7 120428782 [A/G] NM_012338 TSPAN12 EXON Missense_M261T exm652884 7 120450554 [G/C] NM_012338 TSPAN12 EXON Missense_R144P exm652887 7 120450618 [C/G] NM_012338 TSPAN12 EXON Missense_V123L exm652892 7 120455809 [T/C] NM_012338 TSPAN12 EXON Missense_V112I exm652897 7 120478935 [A/G] NM_012338 TSPAN12 EXON Missense_P61S exm2262226 7 120565264 [T/C] exm652926 7 120607606 [A/C] NM_019071 ING3 EXON Missense_H154N exm652946 7 120614811 [G/C] NM_019071 ING3 EXON Missense_C390W exm652960 7 120629916 [A/G] NM_024913,NM_001105533 CPED1,CPED1 EXON Missense_T81A,Missense_T81A exm652963 7 120655733 [A/G] NM_024913,NM_001105533 CPED1,CPED1 EXON Missense_M88I,Missense_M88I exm652964 7 120655759 [A/G] NM_024913,NM_001105533 CPED1,CPED1 EXON Missense_R97Q,Missense_R97Q exm652970 7 120655885 [T/C] NM_024913,NM_001105533 CPED1,CPED1 EXON Missense_P139L,Missense_P139L exm652984 7 120737809 [T/C] NM_024913,NM_001105533 CPED1,CPED1 EXON Missense_P225S,Missense_P225S exm652987 7 120737819 [T/C] NM_024913,NM_001105533 CPED1,CPED1 EXON Missense_S228L,Missense_S228L exm652991 7 120739978 [A/G] NM_024913,NM_001105533 CPED1,CPED1 Silent,Silent exm652995 7 120740020 [T/C] NM_024913,NM_001105533 CPED1,CPED1 EXON Nonsense_R264X,Nonsense_R264X exm653004 7 120764429 [A/C] NM_024913,NM_001105533 CPED1,CPED1 EXON Missense_Q321H,Missense_Q321H exm653005 7 120764443 [T/C] NM_024913,NM_001105533 CPED1,CPED1 EXON Missense_I326T,Missense_I326T exm653007 7 120764476 [T/C] NM_024913,NM_001105533 CPED1,CPED1 EXON Missense_A337V,Missense_A337V exm653011 7 120764515 [A/C] NM_024913,NM_001105533 CPED1,CPED1 EXON Missense_K350T,Missense_K350T exm653017 7 120767194 [A/C] NM_024913,NM_001105533 CPED1,CPED1 EXON Missense_D395E,Missense_D395E exm653019 7 120767311 [C/G] NM_024913,NM_001105533 CPED1,CPED1 EXON Missense_K434N,Missense_K434N exm653022 7 120768454 [A/G] NM_024913,NM_001105533 CPED1,CPED1 EXON Missense_E441K,Missense_E441K exm653023 7 120768476 [T/C] NM_024913,NM_001105533 CPED1,CPED1 EXON Missense_L448S,Missense_L448S exm653026 7 120770182 [T/C] NM_024913,NM_001105533 CPED1,CPED1 EXON Missense_F471L,Missense_F471L exm653029 7 120770321 [A/G] NM_024913,NM_001105533 CPED1,CPED1 EXON Missense_K517R,Missense_K517R exm653034 7 120773935 [A/G] NM_024913,NM_001105533 CPED1,CPED1 EXON Missense_E546K,Missense_E546K exm653038 7 120776097 [G/C] NM_024913,NM_001105533 CPED1,CPED1 EXON Missense_A551G,Missense_A551G exm653039 7 120776099 [T/G] NM_024913,NM_001105533 CPED1,CPED1 EXON Missense_V552F,Missense_V552F exm653040 7 120780881 [A/G] NM_024913,NM_001105533 CPED1,CPED1 EXON Missense_D567G,Missense_D567G exm653043 7 120780907 [T/C] NM_024913,NM_001105533 CPED1,CPED1 EXON Nonsense_Q576X,Nonsense_Q576X exm653045 7 120780975 [T/A] NM_024913,NM_001105533 CPED1,CPED1 EXON Nonsense_C598X,Nonsense_C598X exm653048 7 120781038 [C/G] NM_024913,NM_001105533 CPED1,CPED1 EXON Missense_K619N,Missense_K619N exm653060 7 120876835 [A/G] NM_024913,NM_001105533 CPED1,CPED1 EXON Missense_E708G,Missense_E708G exm653066 7 120884286 [T/C] NM_024913,NM_001105533 CPED1,CPED1 EXON Missense_S735L,Missense_S735L exm653067 7 120884298 [T/C] NM_024913,NM_001105533 CPED1,CPED1 EXON Missense_T739M,Missense_T739M exm653072 7 120901720 [A/G] NM_024913,NM_001105533 CPED1,CPED1 EXON Silent,Missense_R782H exm2137548 7 120906418 [C/G] NM_024913 CPED1 EXON Missense_I816M exm653084 7 120911438 [A/G] NM_024913 CPED1 EXON Missense_R941H exm653085 7 120911462 [A/C] NM_024913 CPED1 EXON Missense_K949T exm653089 7 120935629 [T/C] NM_024913 CPED1 EXON Missense_H1002Y exm653104 7 120969638 [T/C] NM_016087,NM_057168 WNT16,WNT16 EXON Missense_S28F,Missense_S38F exm653106 7 120969671 [A/G] NM_016087,NM_057168 WNT16,WNT16 EXON Missense_N39S,Missense_N49S exm653111 7 120969769 [A/G] NM_016087,NM_057168 WNT16,WNT16 EXON Missense_G72R,Missense_G82R exm653113 7 120969820 [T/A] NM_016087,NM_057168 WNT16,WNT16 EXON Missense_T89S,Missense_T99S exm653116 7 120971816 [T/C] NM_016087,NM_057168 WNT16,WNT16 EXON Missense_M134T,Missense_M144T exm653117 7 120971851 [A/G] NM_016087,NM_057168 WNT16,WNT16 EXON Missense_G146S,Missense_G156S exm653125 7 120972016 [A/C] NM_016087,NM_057168 WNT16,WNT16 EXON Missense_Q201K,Missense_Q211K exm653130 7 120978983 [A/G] NM_016087,NM_057168 WNT16,WNT16 EXON Missense_G218S,Missense_G228S exm653134 7 120979079 [T/C] NM_016087,NM_057168 WNT16,WNT16 EXON Missense_S250P,Missense_S260P exm653135 7 120979089 [T/C] NM_016087,NM_057168 WNT16,WNT16 EXON Missense_T253I,Missense_T263I exm653171 7 121003000 [T/C] NM_001040020,NM_014888 FAM3C,FAM3C EXON Synonymous_G111G,Synonymous_G111G exm653176 7 121011451 [G/C] NM_001040020,NM_014888 FAM3C,FAM3C EXON Missense_G59R,Missense_G59R exm-rs7776725 7 121033121 [T/C] NM_001040020,NM_014888 FAM3C,FAM3C Silent,Silent exm2270788 7 121046807 [T/G] exm-rs10253361 7 121275229 [T/C] exm2258092 7 121419585 [T/C] exm653232 7 121513561 [T/G] NM_001206838,NM_002851,NM_001206839 PTPRZ1,PTPRZ1,PTPRZ1 EXON Missense_I3S,Missense_I3S,Missense_I3S exm653233 7 121513570 [T/G] NM_001206838,NM_002851,NM_001206839 PTPRZ1,PTPRZ1,PTPRZ1 EXON Missense_R6L,Missense_R6L,Missense_R6L exm653243 7 121608011 [T/C] NM_001206838,NM_002851,NM_001206839 PTPRZ1,PTPRZ1,PTPRZ1 EXON Missense_L44P,Missense_L44P,Missense_L44P exm653254 7 121616320 [A/G] NM_001206838,NM_002851,NM_001206839 PTPRZ1,PTPRZ1,PTPRZ1 EXON Missense_E184K,Missense_E184K,Missense_E184K exm653256 7 121616845 [A/G] NM_001206838,NM_002851,NM_001206839 PTPRZ1,PTPRZ1,PTPRZ1 EXON Missense_T187A,Missense_T187A,Missense_T187A exm653277 7 121636589 [A/G] NM_001206838,NM_002851,NM_001206839 PTPRZ1,PTPRZ1,PTPRZ1 EXON Missense_H361R,Missense_H361R,Missense_H361R exm653289 7 121650388 [A/G] NM_001206838,NM_002851,NM_001206839 PTPRZ1,PTPRZ1,PTPRZ1 EXON Missense_E430K,Missense_E430K,Missense_E430K exm653292 7 121650419 [A/G] NM_001206838,NM_002851,NM_001206839 PTPRZ1,PTPRZ1,PTPRZ1 EXON Missense_G440D,Missense_G440D,Missense_G440D exm653293 7 121650421 [A/G] NM_001206838,NM_002851,NM_001206839 PTPRZ1,PTPRZ1,PTPRZ1 EXON Missense_A441T,Missense_A441T,Missense_A441T exm653295 7 121650488 [T/C] NM_001206838,NM_002851,NM_001206839 PTPRZ1,PTPRZ1,PTPRZ1 EXON Missense_T463I,Missense_T463I,Missense_T463I exm653297 7 121650505 [T/C] NM_001206838,NM_002851,NM_001206839 PTPRZ1,PTPRZ1,PTPRZ1 EXON Missense_R469C,Missense_R469C,Missense_R469C exm653298 7 121650506 [A/G] NM_001206838,NM_002851,NM_001206839 PTPRZ1,PTPRZ1,PTPRZ1 EXON Missense_R469H,Missense_R469H,Missense_R469H exm653299 7 121650508 [T/A] NM_001206838,NM_002851,NM_001206839 PTPRZ1,PTPRZ1,PTPRZ1 EXON Missense_I470L,Missense_I470L,Missense_I470L exm653318 7 121651004 [T/C] NM_001206838,NM_002851,NM_001206839 PTPRZ1,PTPRZ1,PTPRZ1 EXON Missense_T635I,Missense_T635I,Missense_T635I exm653333 7 121651297 [A/G] NM_001206838,NM_002851,NM_001206839 PTPRZ1,PTPRZ1,PTPRZ1 EXON Missense_R733G,Missense_R733G,Missense_R733G exm653338 7 121651337 [T/C] NM_001206838,NM_002851,NM_001206839 PTPRZ1,PTPRZ1,PTPRZ1 EXON Missense_S746L,Missense_S746L,Missense_S746L exm653342 7 121651363 [A/G] NM_001206838,NM_002851,NM_001206839 PTPRZ1,PTPRZ1,PTPRZ1 EXON Missense_E755K,Missense_G755S,Missense_E755K exm653346 7 121651510 [A/G] NM_001206838,NM_002851,NM_001206839 PTPRZ1,PTPRZ1,PTPRZ1 EXON Silent,Missense_D804N,Silent exm653359 7 121651751 [A/G] NM_001206838,NM_002851,NM_001206839 PTPRZ1,PTPRZ1,PTPRZ1 EXON Silent,Missense_H884R,Silent exm653365 7 121651826 [A/G] NM_001206838,NM_002851,NM_001206839 PTPRZ1,PTPRZ1,PTPRZ1 EXON Silent,Missense_E909G,Silent exm653377 7 121652170 [G/C] NM_001206838,NM_002851,NM_001206839 PTPRZ1,PTPRZ1,PTPRZ1 EXON Silent,Missense_V1024L,Silent exm653383 7 121652338 [A/C] NM_001206838,NM_002851,NM_001206839 PTPRZ1,PTPRZ1,PTPRZ1 EXON Silent,Missense_K1080Q,Silent exm2137635 7 121652486 [A/C] NM_001206838,NM_002851,NM_001206839 PTPRZ1,PTPRZ1,PTPRZ1 EXON Silent,Missense_H1129P,Silent exm653390 7 121652761 [A/G] NM_001206838,NM_002851,NM_001206839 PTPRZ1,PTPRZ1,PTPRZ1 EXON Silent,Missense_M1221V,Silent exm2244908 7 121652854 [A/G] NM_001206838,NM_002851,NM_001206839 PTPRZ1,PTPRZ1,PTPRZ1 EXON Silent,Missense_M1252V,Silent exm653397 7 121652919 [T/G] NM_001206838,NM_002851,NM_001206839 PTPRZ1,PTPRZ1,PTPRZ1 EXON Silent,Missense_L1273F,Silent exm653398 7 121652941 [A/C] NM_001206838,NM_002851,NM_001206839 PTPRZ1,PTPRZ1,PTPRZ1 EXON Silent,Missense_Q1281K,Silent exm2258093 7 121652964 [T/C] NM_001206838,NM_002851,NM_001206839 PTPRZ1,PTPRZ1,PTPRZ1 EXON Silent,Synonymous_S1288S,Silent exm653407 7 121653137 [A/G] NM_001206838,NM_002851,NM_001206839 PTPRZ1,PTPRZ1,PTPRZ1 EXON Silent,Missense_G1346D,Silent exm653411 7 121653218 [T/A] NM_001206838,NM_002851,NM_001206839 PTPRZ1,PTPRZ1,PTPRZ1 EXON Silent,Missense_H1373L,Silent exm653414 7 121653250 [A/G] NM_001206838,NM_002851,NM_001206839 PTPRZ1,PTPRZ1,PTPRZ1 EXON Silent,Missense_D1384N,Silent exm653416 7 121653331 [A/G] NM_001206838,NM_002851,NM_001206839 PTPRZ1,PTPRZ1,PTPRZ1 EXON Silent,Missense_G1411S,Silent exm653420 7 121653398 [A/G] NM_001206838,NM_002851,NM_001206839 PTPRZ1,PTPRZ1,PTPRZ1 EXON Silent,Missense_G1433D,Silent exm653422 7 121653419 [A/G] NM_001206838,NM_002851,NM_001206839 PTPRZ1,PTPRZ1,PTPRZ1 EXON Silent,Missense_H1440R,Silent exm653428 7 121653532 [A/T] NM_001206838,NM_002851,NM_001206839 PTPRZ1,PTPRZ1,PTPRZ1 EXON Silent,Missense_S1478T,Silent exm653436 7 121653692 [T/G] NM_001206838,NM_002851,NM_001206839 PTPRZ1,PTPRZ1,PTPRZ1 EXON Silent,Missense_L1531R,Silent exm653448 7 121653916 [T/G] NM_001206838,NM_002851,NM_001206839 PTPRZ1,PTPRZ1,PTPRZ1 EXON Silent,Missense_S1606A,Silent exm653458 7 121671536 [A/G] NM_001206838,NM_002851,NM_001206839 PTPRZ1,PTPRZ1,PTPRZ1 EXON Missense_G837R,Missense_G1697R,Missense_G837R exm653463 7 121674150 [A/C] NM_001206838,NM_002851,NM_001206839 PTPRZ1,PTPRZ1,PTPRZ1 EXON Missense_T863K,Missense_T1723K,Silent exm653464 7 121674153 [T/C] NM_001206838,NM_002851,NM_001206839 PTPRZ1,PTPRZ1,PTPRZ1 EXON Missense_L864P,Missense_L1724P,Silent exm653475 7 121678929 [A/G] NM_001206838,NM_002851,NM_001206839 PTPRZ1,PTPRZ1,PTPRZ1 EXON Missense_V970M,Missense_V1830M,Missense_V963M exm653477 7 121679521 [A/G] NM_001206838,NM_002851,NM_001206839 PTPRZ1,PTPRZ1,PTPRZ1 EXON Missense_Q979R,Missense_Q1839R,Missense_Q972R exm653478 7 121679535 [A/G] NM_001206838,NM_002851,NM_001206839 PTPRZ1,PTPRZ1,PTPRZ1 EXON Missense_D984N,Missense_D1844N,Missense_D977N exm653485 7 121680897 [T/C] NM_001206838,NM_002851,NM_001206839 PTPRZ1,PTPRZ1,PTPRZ1 EXON Missense_R1029C,Missense_R1889C,Missense_R1022C exm653487 7 121680999 [T/C] NM_001206838,NM_002851,NM_001206839 PTPRZ1,PTPRZ1,PTPRZ1 EXON Missense_R1063C,Missense_R1923C,Missense_R1056C exm653489 7 121681023 [A/G] NM_001206838,NM_002851,NM_001206839 PTPRZ1,PTPRZ1,PTPRZ1 EXON Missense_V1071I,Missense_V1931I,Missense_V1064I exm653491 7 121682694 [T/C] NM_001206838,NM_002851,NM_001206839 PTPRZ1,PTPRZ1,PTPRZ1 EXON Missense_V1085A,Missense_V1945A,Missense_V1078A exm653492 7 121682702 [A/G] NM_001206838,NM_002851,NM_001206839 PTPRZ1,PTPRZ1,PTPRZ1 EXON Missense_S1088G,Missense_S1948G,Missense_S1081G exm653505 7 121691488 [A/G] NM_001206838,NM_002851,NM_001206839 PTPRZ1,PTPRZ1,PTPRZ1 EXON Missense_S1171G,Missense_S2031G,Missense_S1164G exm653511 7 121694055 [T/C] NM_001206838,NM_002851,NM_001206839 PTPRZ1,PTPRZ1,PTPRZ1 EXON Missense_A1255V,Missense_A2115V,Missense_A1248V exm653534 7 121699896 [T/G] NM_001206838,NM_002851,NM_001206839 PTPRZ1,PTPRZ1,PTPRZ1 EXON Missense_V1394G,Missense_V2254G,Missense_V1387G exm653542 7 121716562 [T/C] NM_005763 AASS EXON Missense_Q921R exm2137684 7 121716610 [T/C] NM_005763 AASS EXON Missense_G905E exm653551 7 121717960 [T/C] NM_005763 AASS EXON Missense_N865S exm653556 7 121718942 [T/C] NM_005763 AASS EXON Missense_K820R exm653564 7 121719708 [T/G] NM_005763 AASS EXON Missense_K780T exm653565 7 121719730 [A/T] NM_005763 AASS EXON Missense_S773T exm2137690 7 121719732 [T/G] NM_005763 AASS EXON Missense_P772H exm653566 7 121719735 [A/G] NM_005763 AASS EXON Missense_S771L exm653569 7 121721558 [G/C] NM_005763 AASS EXON Missense_T759S exm2258094 7 121731889 [T/C] NM_005763 AASS EXON Synonymous_S628S exm653591 7 121732911 [T/C] NM_005763 AASS EXON Missense_E621K exm2137707 7 121733133 [A/T] NM_005763 AASS EXON Missense_I579F exm653597 7 121733190 [A/G] NM_005763 AASS EXON Missense_P560S exm653601 7 121738605 [T/G] NM_005763 AASS EXON Missense_E518D exm653605 7 121738854 [T/C] NM_005763 AASS EXON Missense_I491M exm653626 7 121755179 [A/G] NM_005763 AASS EXON Missense_P331L exm653637 7 121758435 [A/T] NM_005763 AASS EXON Missense_I205L exm2137743 7 121766483 [T/C] NM_005763 AASS EXON Missense_V140M exm653653 7 121769479 [A/G] NM_005763 AASS EXON Missense_F108S exm653663 7 121773744 [G/C] NM_005763 AASS EXON Missense_G13R exm2270789 7 121818068 [T/C] exm2266472 7 121942621 [A/G] NM_001160264,NM_001024613 FEZF1,FEZF1 Silent,Silent exm2244910 7 121943969 [C/G] NM_001160264,NM_001024613,NR_036484 FEZF1,FEZF1,FEZF1-AS1 EXON Silent,Missense_G175R,Silent exm653698 7 121944233 [T/C] NM_001160264,NM_001024613,NR_036484 FEZF1,FEZF1,FEZF1-AS1 EXON Missense_K87E,Missense_K87E,Silent exm653699 7 121944239 [T/C] NM_001160264,NM_001024613,NR_036484 FEZF1,FEZF1,FEZF1-AS1 EXON Missense_S85G,Missense_S85G,Silent exm653710 7 121965550 [A/G] NM_001009571,NM_001167940,NM_017954 CADPS2,CADPS2,CADPS2 EXON Missense_T1192M,Missense_T1237M,Missense_T1233M exm653712 7 121985672 [A/G] NM_001009571,NM_001167940,NM_017954 CADPS2,CADPS2,CADPS2 EXON Nonsense_R1149X,Nonsense_R1194X,Nonsense_R1190X exm653718 7 122001046 [T/C] NM_001009571,NM_001167940,NM_017954 CADPS2,CADPS2,CADPS2 EXON Missense_V1096M,Missense_V1141M,Missense_V1137M exm653721 7 122027130 [T/C] NM_001009571,NM_001167940,NM_017954 CADPS2,CADPS2,CADPS2 EXON Missense_D1042N,Missense_D1092N,Missense_D1088N exm653724 7 122028750 [T/A] NM_001009571,NM_001167940,NM_017954 CADPS2,CADPS2,CADPS2 EXON Missense_D971E,Missense_D1021E,Missense_D1017E exm2137771 7 122028773 [T/C] NM_001009571,NM_001167940,NM_017954 CADPS2,CADPS2,CADPS2 EXON Missense_E964K,Missense_E1014K,Missense_E1010K exm653731 7 122033505 [C/G] NM_001009571,NM_001167940,NM_017954 CADPS2,CADPS2,CADPS2 EXON Missense_Q954E,Missense_Q964E,Missense_Q960E exm653734 7 122033574 [A/G] NM_001009571,NM_001167940,NM_017954 CADPS2,CADPS2,CADPS2 EXON Missense_R931C,Missense_R941C,Missense_R937C exm653739 7 122047674 [G/C] NM_001009571,NM_001167940,NM_017954 CADPS2,CADPS2,CADPS2 EXON Missense_T883S,Missense_T893S,Missense_T889S exm653745 7 122056213 [T/C] NM_001009571,NM_001167940,NM_017954 CADPS2,CADPS2,CADPS2 EXON Missense_M825V,Missense_M835V,Missense_M828V exm653750 7 122078476 [C/G] NM_001009571,NM_001167940,NM_017954 CADPS2,CADPS2,CADPS2 EXON Missense_V796L,Missense_V799L,Missense_V799L exm653756 7 122091446 [T/C] NM_001009571,NM_001167940,NM_017954 CADPS2,CADPS2,CADPS2 EXON Missense_N754S,Missense_N757S,Missense_N757S exm653767 7 122114544 [A/G] NM_001009571,NM_001167940,NM_017954 CADPS2,CADPS2,CADPS2 EXON Missense_M627T,Missense_M630T,Missense_M630T exm2137796 7 122130281 [A/G] NM_001009571,NM_001167940,NM_017954 CADPS2,CADPS2,CADPS2 EXON Missense_I569T,Missense_I569T,Missense_I569T exm-rs2429582 7 122202593 [T/C] NM_001009571,NM_001167940,NM_017954 CADPS2,CADPS2,CADPS2 Silent,Silent,Silent exm653797 7 122261747 [T/C] NM_001009571,NM_001167940,NM_017954 CADPS2,CADPS2,CADPS2 EXON Missense_A298T,Missense_A298T,Missense_A298T exm653798 7 122261764 [T/C] NM_001009571,NM_001167940,NM_017954 CADPS2,CADPS2,CADPS2 EXON Missense_K292R,Missense_K292R,Missense_K292R exm653811 7 122303536 [T/C] NM_001009571,NM_001167940,NM_017954 CADPS2,CADPS2,CADPS2 EXON Missense_I181V,Missense_I181V,Missense_I181V exm653812 7 122303598 [C/G] NM_001009571,NM_001167940,NM_017954 CADPS2,CADPS2,CADPS2 EXON Missense_A160G,Missense_A160G,Missense_A160G exm2270790 7 122333918 [T/G] NM_001009571,NM_001167940,NM_017954 CADPS2,CADPS2,CADPS2 Silent,Silent,Silent exm653823 7 122338104 [T/C] NM_001009571,NM_001167940,NM_017954,NM_139175 CADPS2,CADPS2,CADPS2,RNF133 EXON Silent,Silent,Silent,Missense_H290R exm653825 7 122338165 [A/G] NM_001009571,NM_001167940,NM_017954,NM_139175 CADPS2,CADPS2,CADPS2,RNF133 EXON Silent,Silent,Silent,Missense_R270C exm653830 7 122338255 [A/G] NM_001009571,NM_001167940,NM_017954,NM_139175 CADPS2,CADPS2,CADPS2,RNF133 EXON Silent,Silent,Silent,Nonsense_R240X exm653832 7 122338282 [G/C] NM_001009571,NM_001167940,NM_017954,NM_139175 CADPS2,CADPS2,CADPS2,RNF133 EXON Silent,Silent,Silent,Missense_Q231E exm653836 7 122338323 [T/C] NM_001009571,NM_001167940,NM_017954,NM_139175 CADPS2,CADPS2,CADPS2,RNF133 EXON Silent,Silent,Silent,Missense_R217K exm653843 7 122338447 [T/C] NM_001009571,NM_001167940,NM_017954,NM_139175 CADPS2,CADPS2,CADPS2,RNF133 EXON Silent,Silent,Silent,Missense_V176M exm653846 7 122338491 [A/G] NM_001009571,NM_001167940,NM_017954,NM_139175 CADPS2,CADPS2,CADPS2,RNF133 EXON Silent,Silent,Silent,Missense_T161M exm653848 7 122338516 [A/C] NM_001009571,NM_001167940,NM_017954,NM_139175 CADPS2,CADPS2,CADPS2,RNF133 EXON Silent,Silent,Silent,Missense_V153F exm653855 7 122338654 [A/G] NM_001009571,NM_001167940,NM_017954,NM_139175 CADPS2,CADPS2,CADPS2,RNF133 EXON Silent,Silent,Silent,Missense_R107W exm653856 7 122338659 [A/G] NM_001009571,NM_001167940,NM_017954,NM_139175 CADPS2,CADPS2,CADPS2,RNF133 EXON Silent,Silent,Silent,Missense_I105T exm653858 7 122338693 [A/G] NM_001009571,NM_001167940,NM_017954,NM_139175 CADPS2,CADPS2,CADPS2,RNF133 EXON Silent,Silent,Silent,Nonsense_R94X exm653863 7 122338770 [A/G] NM_001009571,NM_001167940,NM_017954,NM_139175 CADPS2,CADPS2,CADPS2,RNF133 EXON Silent,Silent,Silent,Missense_L68S exm653866 7 122338930 [A/T] NM_001009571,NM_001167940,NM_017954,NM_139175 CADPS2,CADPS2,CADPS2,RNF133 EXON Silent,Silent,Silent,Missense_S15T exm653867 7 122338970 [T/C] NM_001009571,NM_001167940,NM_017954,NM_139175 CADPS2,CADPS2,CADPS2,RNF133 EXON Silent,Silent,Silent,Missense_M1I exm653871 7 122341954 [A/C] NM_001009571,NM_001167940,NM_017954,NM_198085 CADPS2,CADPS2,CADPS2,RNF148 EXON Silent,Silent,Silent,Missense_C284F exm653872 7 122341991 [A/G] NM_001009571,NM_001167940,NM_017954,NM_198085 CADPS2,CADPS2,CADPS2,RNF148 EXON Silent,Silent,Silent,Missense_R272C exm653877 7 122342035 [T/C] NM_001009571,NM_001167940,NM_017954,NM_198085 CADPS2,CADPS2,CADPS2,RNF148 EXON Silent,Silent,Silent,Missense_N257S exm653878 7 122342081 [A/G] NM_001009571,NM_001167940,NM_017954,NM_198085 CADPS2,CADPS2,CADPS2,RNF148 EXON Silent,Silent,Silent,Nonsense_R242X exm2137821 7 122342090 [A/G] NM_001009571,NM_001167940,NM_017954,NM_198085 CADPS2,CADPS2,CADPS2,RNF148 EXON Silent,Silent,Silent,Missense_L239F exm653879 7 122342131 [T/C] NM_001009571,NM_001167940,NM_017954,NM_198085 CADPS2,CADPS2,CADPS2,RNF148 EXON Silent,Silent,Silent,Missense_R225Q exm653887 7 122342324 [T/G] NM_001009571,NM_001167940,NM_017954,NM_198085 CADPS2,CADPS2,CADPS2,RNF148 EXON Silent,Silent,Silent,Missense_M161L exm653889 7 122342350 [A/G] NM_001009571,NM_001167940,NM_017954,NM_198085 CADPS2,CADPS2,CADPS2,RNF148 EXON Silent,Silent,Silent,Missense_A152V exm2137827 7 122342453 [T/C] NM_001009571,NM_001167940,NM_017954,NM_198085 CADPS2,CADPS2,CADPS2,RNF148 EXON Silent,Silent,Silent,Missense_V118M exm2258096 7 122342643 [T/C] NM_001009571,NM_001167940,NM_017954,NM_198085 CADPS2,CADPS2,CADPS2,RNF148 EXON Silent,Silent,Silent,Synonymous_S54S exm653904 7 122342774 [C/G] NM_001009571,NM_001167940,NM_017954,NM_198085 CADPS2,CADPS2,CADPS2,RNF148 EXON Silent,Silent,Silent,Missense_H11D exm2270681 7 122547130 [T/G] exm653918 7 122634998 [T/C] NM_016945 TAS2R16 EXON Missense_V231I exm653919 7 122635024 [T/C] NM_016945 TAS2R16 EXON Missense_R222H exm653920 7 122635027 [A/G] NM_016945 TAS2R16 EXON Missense_A221V exm653923 7 122635100 [T/C] NM_016945 TAS2R16 EXON Missense_I197V exm653927 7 122635173 [A/C] NM_016945 TAS2R16 EXON Missense_N172K exm653931 7 122635208 [A/G] NM_016945 TAS2R16 EXON Missense_P161S exm653936 7 122635349 [T/C] NM_016945 TAS2R16 EXON Missense_I114V exm653943 7 122635469 [A/C] NM_016945 TAS2R16 EXON Missense_L74V exm653945 7 122635507 [T/C] NM_016945 TAS2R16 EXON Nonsense_W61X exm653951 7 122635640 [T/C] NM_016945 TAS2R16 EXON Missense_E17K exm653953 7 122635645 [A/G] NM_016945 TAS2R16 EXON Missense_V15A exm2266473 7 122740976 [A/G] exm653959 7 122755609 [A/G] NM_022444 SLC13A1 EXON Missense_S584L exm653976 7 122759242 [A/G] NM_022444 SLC13A1 EXON Missense_P469S exm653981 7 122763257 [T/C] NM_022444 SLC13A1 EXON Missense_K425E exm653986 7 122768941 [T/C] NM_022444 SLC13A1 EXON Missense_R364Q exm653990 7 122774498 [A/C] NM_022444 SLC13A1 EXON Missense_W300G exm2137888 7 122774558 [T/C] NM_022444 SLC13A1 EXON Missense_N280D exm653994 7 122774582 [A/G] NM_022444 SLC13A1 EXON Missense_R272C exm654001 7 122787306 [A/G] NM_022444 SLC13A1 EXON Missense_T240M exm654002 7 122787315 [T/C] NM_022444 SLC13A1 EXON Missense_R237H exm654003 7 122787316 [A/G] NM_022444 SLC13A1 EXON Missense_R237C exm654006 7 122808474 [T/C] NM_022444 SLC13A1 EXON Missense_Y205C exm654011 7 122808603 [C/G] NM_022444 SLC13A1 EXON Missense_G189A exm654013 7 122809234 [T/C] NM_022444 SLC13A1 EXON Missense_N174S exm654019 7 122809286 [C/G] NM_022444 SLC13A1 EXON Missense_Q157E exm654021 7 122809303 [A/G] NM_022444 SLC13A1 EXON Missense_A151V exm654023 7 122809322 [T/C] NM_022444 SLC13A1 EXON Missense_A145T exm654031 7 122811823 [A/C] NM_022444 SLC13A1 EXON Missense_W122G exm654042 7 122821111 [T/C] NM_022444 SLC13A1 EXON Nonsense_W48X exm2137908 7 122839956 [A/G] NM_022444 SLC13A1 EXON Synonymous_F15F exm654050 7 122839967 [A/G] NM_022444 SLC13A1 EXON Nonsense_R12X exm654051 7 122839969 [T/C] NM_022444 SLC13A1 EXON Missense_R11H exm654060 7 123092923 [T/G] NM_178827 IQUB EXON Missense_N750K exm654061 7 123092969 [G/C] NM_178827 IQUB EXON Missense_R735P exm2137911 7 123092970 [A/G] NM_178827 IQUB EXON Missense_R735C exm654067 7 123097557 [T/C] NM_178827 IQUB EXON Missense_D691N exm654069 7 123097583 [A/G] NM_178827 IQUB EXON Missense_A682V exm654071 7 123101414 [T/C] NM_178827 IQUB EXON Missense_M668I exm654073 7 123101505 [T/C] NM_178827 IQUB EXON Missense_R638Q exm654084 7 123104984 [T/C] NM_178827 IQUB EXON Missense_H554R exm654085 7 123105006 [A/G] NM_178827 IQUB EXON Missense_L547F exm654093 7 123119922 [A/G] NM_178827 IQUB EXON Missense_A446V exm654094 7 123119950 [A/G] NM_178827 IQUB EXON Missense_L437F exm654095 7 123119988 [C/G] NM_178827 IQUB EXON Missense_S424C exm654118 7 123143161 [T/C] NM_178827 IQUB EXON Missense_Q235R exm654123 7 123143364 [T/C] NM_178827 IQUB EXON Missense_E196K exm654124 7 123143387 [A/T] NM_178827 IQUB EXON Missense_V188E exm654125 7 123143419 [T/G] NM_178827 IQUB Silent exm654132 7 123150048 [A/G] NM_178827 IQUB EXON Missense_P147S exm654133 7 123152019 [T/C] NM_178827 IQUB EXON Missense_V126M exm654141 7 123152189 [G/C] NM_178827 IQUB EXON Nonsense_S69X exm654142 7 123152210 [T/C] NM_178827 IQUB EXON Missense_E62G exm654143 7 123152274 [C/G] NM_178827 IQUB EXON Missense_Q41E exm654150 7 123182267 [T/C] NM_005000 NDUFA5 EXON Missense_H86R exm654164 7 123190559 [A/G] NM_005000 NDUFA5 EXON Nonsense_Q50X exm654182 7 123197843 [A/C] NM_005000 NDUFA5 EXON Missense_G3C exm654183 7 123197849 [T/G] NM_005000 NDUFA5 EXON Missense_M1L exm2137963 7 123254647 [A/G] NM_080928 ASB15 EXON Missense_A31T exm654195 7 123256427 [T/C] NM_080928 ASB15 EXON Missense_P57L exm654196 7 123256429 [A/G] NM_080928 ASB15 EXON Missense_E58K exm654198 7 123256453 [A/G] NM_080928 ASB15 EXON Missense_K66E exm654217 7 123264833 [T/G] NM_080928 ASB15 EXON Missense_G221V exm-IND7-123054421 7 123267186 [D/I] NM_080928 ASB15 EXON exm654223 7 123267200 [T/C] NM_080928 ASB15 EXON Missense_S245L exm654227 7 123267299 [T/C] NM_080928 ASB15 EXON Missense_L278P exm654229 7 123267310 [T/C] NM_080928 ASB15 EXON Nonsense_R282X exm654232 7 123267325 [A/G] NM_080928 ASB15 EXON Missense_G287R exm654234 7 123268962 [A/G] NM_080928 ASB15 EXON Missense_R305Q exm654239 7 123269118 [C/G] NM_080928 ASB15 EXON Missense_G357A exm654245 7 123269280 [T/C] NM_080928 ASB15 EXON Missense_M411T exm654246 7 123269298 [A/G] NM_080928 ASB15 EXON Missense_R417H exm654247 7 123269302 [A/C] NM_080928 ASB15 EXON Missense_F418L exm2137984 7 123269333 [A/G] NM_080928 ASB15 EXON Missense_E429K exm654262 7 123276923 [A/G] NM_080928 ASB15 EXON Missense_Q552R exm2273437 7 123277051 [T/C] NM_080928 ASB15 EXON Silent exm654269 7 123296084 [A/G] NM_207163 LMOD2 EXON Missense_A23T exm2137997 7 123296159 [A/G] NM_207163 LMOD2 EXON Missense_V48M exm654273 7 123296193 [T/C] NM_207163 LMOD2 EXON Missense_T59I exm2266474 7 123301940 [A/G] NM_207163 LMOD2 EXON Synonymous_E100E exm654279 7 123302011 [T/A] NM_207163 LMOD2 EXON Missense_E124V exm654282 7 123302052 [G/C] NM_207163 LMOD2 EXON Missense_E138Q exm654287 7 123302244 [A/G] NM_207163 LMOD2 EXON Missense_A202T exm654288 7 123302302 [T/C] NM_207163 LMOD2 EXON Missense_I221T exm654307 7 123302787 [A/G] NM_207163 LMOD2 EXON Missense_G383R exm654320 7 123303052 [A/G] NM_207163 LMOD2 EXON Missense_R471Q exm654349 7 123332624 [T/G] NM_003941 WASL EXON Missense_P375Q exm2274273 7 123349183 [T/C] NM_003941 WASL EXON Missense_N71S exm654391 7 123388766 [T/G] NM_003941 WASL EXON Missense_P8Q exm2266561 7 123502568 [A/G] NM_012269 HYAL4 Silent exm654393 7 123508328 [A/G] NM_012269 HYAL4 EXON Missense_M1V exm654394 7 123508361 [T/C] NM_012269 HYAL4 EXON Missense_C12R exm654398 7 123508400 [A/G] NM_012269 HYAL4 EXON Missense_I25V exm654406 7 123508575 [A/G] NM_012269 HYAL4 EXON Missense_R83K exm654417 7 123508845 [A/G] NM_012269 HYAL4 EXON Missense_D173G exm654422 7 123508955 [T/C] NM_012269 HYAL4 EXON Nonsense_R210X exm654427 7 123508988 [A/C] NM_012269 HYAL4 EXON Missense_P221T exm2244932 7 123509048 [A/G] NM_012269 HYAL4 EXON Missense_E241K exm654442 7 123514896 [T/G] NM_012269 HYAL4 EXON Missense_A346S exm654448 7 123516943 [A/G] NM_012269 HYAL4 EXON Missense_A394T exm654449 7 123516944 [T/C] NM_012269 HYAL4 EXON Missense_A394V exm654451 7 123516947 [T/C] NM_012269 HYAL4 EXON Missense_P395L exm654452 7 123516961 [T/G] NM_012269 HYAL4 EXON Missense_L400V exm654454 7 123516973 [A/G] NM_012269 HYAL4 EXON Missense_S404G exm654461 7 123517192 [T/C] NM_012269 HYAL4 EXON Nonsense_R477X exm654462 7 123517193 [A/G] NM_012269 HYAL4 EXON Missense_R477Q exm654464 7 123593641 [T/C] NM_003117,NM_001174044,NM_153189,NM_001174045,NM_001174046 SPAM1,SPAM1,SPAM1,SPAM1,SPAM1 EXON Missense_F6S,Missense_F6S,Missense_F6S,Missense_F6S,Missense_F6S exm654466 7 123593674 [C/G] NM_003117,NM_001174044,NM_153189,NM_001174045,NM_001174046 SPAM1,SPAM1,SPAM1,SPAM1,SPAM1 EXON Nonsense_S17X,Nonsense_S17X,Nonsense_S17X,Nonsense_S17X,Nonsense_S17X exm654469 7 123593764 [T/C] NM_003117,NM_001174044,NM_153189,NM_001174045,NM_001174046 SPAM1,SPAM1,SPAM1,SPAM1,SPAM1 EXON Missense_V47A,Missense_V47A,Missense_V47A,Missense_V47A,Missense_V47A exm654478 7 123594192 [T/C] NM_003117,NM_001174044,NM_153189,NM_001174045,NM_001174046 SPAM1,SPAM1,SPAM1,SPAM1,SPAM1 EXON Nonsense_Q190X,Nonsense_Q190X,Nonsense_Q190X,Nonsense_Q190X,Nonsense_Q190X exm654491 7 123594453 [T/C] NM_003117,NM_001174044,NM_153189,NM_001174045,NM_001174046 SPAM1,SPAM1,SPAM1,SPAM1,SPAM1 EXON Missense_Y277H,Missense_Y277H,Missense_Y277H,Missense_Y277H,Missense_Y277H exm2138071 7 123594498 [T/C] NM_003117,NM_001174044,NM_153189,NM_001174045,NM_001174046 SPAM1,SPAM1,SPAM1,SPAM1,SPAM1 EXON Missense_P292S,Missense_P292S,Missense_P292S,Missense_P292S,Missense_P292S exm654495 7 123594538 [A/G] NM_003117,NM_001174044,NM_153189,NM_001174045,NM_001174046 SPAM1,SPAM1,SPAM1,SPAM1,SPAM1 EXON Missense_R305H,Missense_R305H,Missense_R305H,Missense_R305H,Missense_R305H exm2138072 7 123594553 [A/G] NM_003117,NM_001174044,NM_153189,NM_001174045,NM_001174046 SPAM1,SPAM1,SPAM1,SPAM1,SPAM1 EXON Missense_D310G,Missense_D310G,Missense_D310G,Missense_D310G,Missense_D310G exm654506 7 123599571 [A/G] NM_003117,NM_001174044,NM_153189,NM_001174045,NM_001174046 SPAM1,SPAM1,SPAM1,SPAM1,SPAM1 EXON Missense_T360A,Missense_T360A,Missense_T360A,Missense_T360A,Missense_T360A exm2138076 7 123599598 [A/G] NM_003117,NM_001174044,NM_153189,NM_001174045,NM_001174046 SPAM1,SPAM1,SPAM1,SPAM1,SPAM1 EXON Missense_V369I,Missense_V369I,Missense_V369I,Missense_V369I,Missense_V369I exm654509 7 123599649 [T/G] NM_003117,NM_001174044,NM_153189,NM_001174045,NM_001174046 SPAM1,SPAM1,SPAM1,SPAM1,SPAM1 EXON Missense_V386L,Missense_V386L,Missense_V386L,Missense_V386L,Missense_V386L exm654511 7 123599668 [A/G] NM_003117,NM_001174044,NM_153189,NM_001174045,NM_001174046 SPAM1,SPAM1,SPAM1,SPAM1,SPAM1 EXON Nonsense_W392X,Nonsense_W392X,Nonsense_W392X,Nonsense_W392X,Nonsense_W392X exm654513 7 123599755 [T/C] NM_003117,NM_001174044,NM_153189,NM_001174045,NM_001174046 SPAM1,SPAM1,SPAM1,SPAM1,SPAM1 EXON Missense_P421L,Missense_P421L,Missense_P421L,Missense_P421L,Missense_P421L exm654515 7 123599835 [A/G] NM_003117,NM_001174044,NM_153189,NM_001174045,NM_001174046 SPAM1,SPAM1,SPAM1,SPAM1,SPAM1 EXON Missense_D448N,Missense_D448N,Missense_D448N,Missense_D448N,Missense_D448N exm654516 7 123599845 [A/T] NM_003117,NM_001174044,NM_153189,NM_001174045,NM_001174046 SPAM1,SPAM1,SPAM1,SPAM1,SPAM1 EXON Missense_D451V,Missense_D451V,Missense_D451V,Missense_D451V,Missense_D451V exm654520 7 123599976 [A/G] NM_003117,NM_001174044,NM_153189,NM_001174045,NM_001174046 SPAM1,SPAM1,SPAM1,SPAM1,SPAM1 EXON Missense_I495V,Missense_I495V,Missense_I495V,Missense_I495V,Missense_I495V exm2270682 7 123850419 [T/C] exm2266562 7 123983095 [A/G] exm2266475 7 124332986 [A/G] exm654576 7 124386619 [T/C] NM_005302 GPR37 EXON Missense_R601H exm654578 7 124386655 [A/G] NM_005302 GPR37 EXON Missense_T589M exm654581 7 124386748 [T/C] NM_005302 GPR37 EXON Missense_R558Q exm654583 7 124386815 [A/G] NM_005302 GPR37 EXON Missense_F536L exm654614 7 124404339 [T/A] NM_005302 GPR37 EXON Missense_E231V exm654615 7 124404348 [A/C] NM_005302 GPR37 EXON Missense_G228V exm654633 7 124404630 [A/G] NM_005302 GPR37 EXON Missense_L134S exm2138106 7 124404960 [A/G] NM_005302 GPR37 EXON Missense_A24V exm2138122 7 124481168 [C/G] NM_015450,NM_001042594,NR_003104,NR_003102,NR_003103 POT1,POT1,POT1,POT1,POT1 EXON Missense_D410H,Missense_D279H,Silent,Silent,Silent exm654678 7 124482897 [T/C] NM_015450,NM_001042594,NR_003104,NR_003102,NR_003103 POT1,POT1,POT1,POT1,POT1 EXON Missense_Q376R,Missense_Q245R,Silent,Silent,Silent exm654692 7 124491972 [A/C] NM_015450,NM_001042594,NR_003104,NR_003102,NR_003103 POT1,POT1,POT1,POT1,POT1 EXON Missense_Q301H,Missense_Q170H,Silent,Silent,Silent exm654698 7 124493144 [T/C] NM_015450,NM_001042594,NR_003104,NR_003102,NR_003103 POT1,POT1,POT1,POT1,POT1 EXON Missense_M251V,Missense_M120V,Silent,Silent,Silent exm654713 7 124503610 [T/C] NM_015450,NM_001042594,NR_003104,NR_003102,NR_003103 POT1,POT1,POT1,POT1,POT1 EXON Missense_I114V,Silent,Silent,Silent,Silent exm-rs7802007 7 124638034 [A/G] exm2266476 7 124935201 [A/G] exm2270791 7 125115662 [T/C] exm2270683 7 125224602 [T/C] exm2266563 7 125805301 [A/G] exm2270684 7 125866526 [T/C] exm2138140 7 126086158 [A/G] NM_001127323,NM_000845,NR_028041 GRM8,GRM8,GRM8 EXON Missense_P900L,Silent,Silent exm654728 7 126086242 [T/C] NM_001127323,NM_000845,NR_028041 GRM8,GRM8,GRM8 EXON Missense_K872R,Missense_K872R,Silent exm654734 7 126086363 [T/C] NM_001127323,NM_000845,NR_028041 GRM8,GRM8,GRM8 EXON Missense_M832V,Missense_M832V,Silent exm654759 7 126173556 [A/G] NM_001127323,NM_000845,NR_028041 GRM8,GRM8,GRM8 EXON Missense_T627M,Missense_T627M,Silent exm654768 7 126173739 [T/C] NM_001127323,NM_000845,NR_028041 GRM8,GRM8,GRM8 EXON Missense_R566H,Missense_R566H,Silent exm2138149 7 126173772 [A/C] NM_001127323,NM_000845,NR_028041 GRM8,GRM8,GRM8 EXON Missense_L555R,Missense_L555R,Silent exm654777 7 126173898 [A/G] NM_001127323,NM_000845,NR_028041 GRM8,GRM8,GRM8 EXON Missense_A513V,Missense_A513V,Silent exm654778 7 126173902 [G/C] NM_001127323,NM_000845,NR_028041 GRM8,GRM8,GRM8 EXON Missense_P512A,Missense_P512A,Silent exm-rs17691394 7 126324591 [A/G] NM_001127323,NM_000845,NR_028041 GRM8,GRM8,GRM8 Silent,Silent,Silent exm-rs11971186 7 126437897 [A/G] NM_001127323,NM_000845,NR_028041 GRM8,GRM8,GRM8 Silent,Silent,Silent exm654812 7 126544139 [T/C] NM_001127323,NM_000845,NR_028041 GRM8,GRM8,GRM8 EXON Missense_H302R,Missense_H302R,Silent exm2270685 7 126613163 [T/G] NM_001127323,NM_000845,NR_028041 GRM8,GRM8,GRM8 Silent,Silent,Silent exm-rs17864092 7 126639604 [T/C] NM_001127323,NM_000845,NR_028041 GRM8,GRM8,GRM8 Silent,Silent,Silent exm2270686 7 126719170 [T/C] NM_001127323,NM_000845,NR_028041 GRM8,GRM8,GRM8 Silent,Silent,Silent exm654833 7 126746649 [T/C] NM_001127323,NM_000845,NR_028041 GRM8,GRM8,GRM8 EXON Missense_V210M,Missense_V210M,Silent exm654844 7 126882901 [T/C] NM_001127323,NM_000845,NR_028041 GRM8,GRM8,GRM8 EXON Missense_V120M,Missense_V120M,Silent exm654858 7 126883138 [A/G] NM_001127323,NM_000845,NR_028041 GRM8,GRM8,GRM8 EXON Missense_R41W,Missense_R41W,Silent exm654859 7 126883163 [G/C] NM_001127323,NM_000845,NR_028041 GRM8,GRM8,GRM8 EXON Missense_H32Q,Missense_H32Q,Silent exm654861 7 126883197 [A/C] NM_001127323,NM_000845,NR_028041 GRM8,GRM8,GRM8 EXON Missense_F21C,Missense_F21C,Silent exm654863 7 126883230 [C/G] NM_001127323,NM_000845,NR_028041 GRM8,GRM8,GRM8 EXON Missense_S10C,Missense_S10C,Silent exm654864 7 126883239 [T/C] NM_001127323,NM_000845,NR_028041 GRM8,GRM8,GRM8 EXON Missense_R7Q,Missense_R7Q,Silent exm2262236 7 126924753 [A/G] exm654875 7 127013672 [C/G] NM_176814 ZNF800 EXON Missense_A573G exm654897 7 127014438 [T/C] NM_176814 ZNF800 EXON Missense_I318V exm654900 7 127014560 [T/C] NM_176814 ZNF800 EXON Missense_R277H exm654903 7 127014578 [T/C] NM_176814 ZNF800 EXON Missense_N271S exm654906 7 127014645 [T/G] NM_176814 ZNF800 EXON Missense_I249L exm654908 7 127014654 [A/G] NM_176814 ZNF800 EXON Missense_R246C exm654914 7 127014780 [T/C] NM_176814 ZNF800 EXON Missense_A204T exm654922 7 127015059 [T/G] NM_176814 ZNF800 EXON Missense_Q111K exm654926 7 127015083 [A/G] NM_176814 ZNF800 EXON Missense_P103S exm654928 7 127017245 [T/C] NM_176814 ZNF800 EXON Missense_D99G exm654950 7 127222318 [T/C] NM_024523 GCC1 EXON Missense_E693G exm654958 7 127222450 [T/C] NM_024523 GCC1 EXON Missense_N649S exm654962 7 127222544 [A/G] NM_024523 GCC1 EXON Missense_R618C exm654965 7 127222589 [G/C] NM_024523 GCC1 EXON Missense_L603V exm654967 7 127222603 [T/G] NM_024523 GCC1 EXON Missense_E598A exm654968 7 127222625 [A/G] NM_024523 GCC1 EXON Missense_R591C exm654986 7 127223107 [T/C] NM_024523 GCC1 EXON Missense_N430S exm655000 7 127224348 [A/G] NM_024523 GCC1 EXON Missense_R297C exm655001 7 127224417 [T/C] NM_024523 GCC1 EXON Missense_A274T exm655002 7 127224437 [T/C] NM_024523 GCC1 EXON Missense_R267K exm655004 7 127224452 [T/C] NM_024523 GCC1 EXON Missense_Q262R exm655007 7 127224626 [A/G] NM_024523 GCC1 EXON Missense_A204V exm655018 7 127224872 [A/G] NM_024523 GCC1 EXON Missense_A122V exm655021 7 127224976 [C/G] NM_024523 GCC1 EXON Missense_C87W exm655026 7 127225037 [T/A] NM_024523 GCC1 EXON Missense_V67E exm655054 7 127233926 [A/G] NM_020369 FSCN3 EXON Missense_I7V exm655057 7 127233977 [T/G] NM_020369 FSCN3 EXON Missense_A24S exm655063 7 127235385 [A/G] NM_020369 FSCN3 EXON Missense_E57K exm655068 7 127235505 [A/C] NM_020369 FSCN3 EXON Missense_L97M exm655069 7 127235509 [A/G] NM_020369 FSCN3 EXON Missense_R98H exm655073 7 127235607 [T/C] NM_020369 FSCN3 EXON Missense_S131P exm655077 7 127235676 [T/C] NM_020369 FSCN3 EXON Missense_R154C exm655087 7 127235865 [A/G] NM_020369 FSCN3 EXON Missense_M217V exm655090 7 127235875 [A/G] NM_020369 FSCN3 EXON Missense_R220Q exm655093 7 127235935 [T/C] NM_020369 FSCN3 EXON Missense_T240M exm655096 7 127235999 [A/C] NM_020369 FSCN3 EXON Missense_H261Q exm655098 7 127236016 [C/G] NM_020369 FSCN3 EXON Missense_S267T exm655102 7 127236396 [A/G] NM_020369 FSCN3 EXON Missense_A286T exm655105 7 127236472 [A/G] NM_020369 FSCN3 EXON Missense_R311H exm655113 7 127238546 [T/C] NM_020369 FSCN3 EXON Nonsense_R340X exm655115 7 127238592 [T/G] NM_020369 FSCN3 EXON Missense_G355V exm655116 7 127238594 [T/C] NM_020369 FSCN3 EXON Missense_R356C exm655117 7 127238595 [A/G] NM_020369 FSCN3 EXON Missense_R356H exm655119 7 127239434 [C/G] NM_020369 FSCN3 Silent exm655124 7 127239489 [A/G] NM_020369 FSCN3 EXON Missense_R392Q exm655126 7 127239519 [T/C] NM_020369 FSCN3 EXON Missense_S402L exm655129 7 127239557 [A/G] NM_020369 FSCN3 EXON Missense_D415N exm655130 7 127239560 [T/C] NM_020369 FSCN3 EXON Missense_R416C exm655132 7 127239582 [A/G] NM_020369 FSCN3 EXON Missense_R423Q exm655139 7 127240344 [A/G] NM_020369 FSCN3 EXON Missense_N463S exm655141 7 127240355 [A/G] NM_020369 FSCN3 EXON Missense_V467I exm655142 7 127240368 [A/G] NM_020369 FSCN3 EXON Missense_N471S exm655148 7 127251152 [T/C] NM_006193 PAX4 EXON Nonsense_W333X exm655150 7 127251161 [A/G] NM_006193 PAX4 EXON Missense_A330V exm655151 7 127251188 [T/G] NM_006193 PAX4 EXON Missense_H321P exm655157 7 127251634 [A/G] NM_006193 PAX4 EXON Missense_C282R exm655160 7 127251702 [A/G] NM_006193 PAX4 EXON Missense_A259V exm655176 7 127253550 [T/C] NM_006193 PAX4 EXON Missense_R192H exm2244947 7 127253551 [T/G] NM_006193 PAX4 EXON Missense_R192S exm655178 7 127253578 [A/G] NM_006193 PAX4 EXON Missense_R183C exm655190 7 127254551 [A/G] NM_006193 PAX4 EXON Missense_R133W exm655192 7 127254587 [A/G] NM_006193 PAX4 EXON Missense_R121W exm655195 7 127254981 [A/G] NM_006193 PAX4 EXON Missense_R97C exm655197 7 127255034 [T/C] NM_006193 PAX4 EXON Missense_R79Q exm655200 7 127255083 [A/C] NM_006193 PAX4 EXON Missense_G63C exm655207 7 127255466 [A/G] NM_006193 PAX4 EXON Missense_R37W exm655210 7 127255505 [A/G] NM_006193 PAX4 EXON Missense_R24W exm655213 7 127255541 [A/G] NM_006193 PAX4 EXON Missense_R12W exm2275974 7 127326687 [G/C] NM_014390 SND1 EXON Missense_I33M exm655224 7 127326782 [T/C] NM_014390 SND1 EXON Missense_A65V exm655225 7 127326788 [A/C] NM_014390 SND1 EXON Missense_Q67P exm655227 7 127334945 [A/G] NM_014390 SND1 EXON Missense_T98A exm655237 7 127341230 [T/C] NM_014390 SND1 EXON Missense_R148W exm655238 7 127341244 [T/G] NM_014390 SND1 EXON Missense_C152W exm655240 7 127341296 [T/G] NM_014390 SND1 EXON Missense_S170A exm2258109 7 127344910 [A/G] NM_014390 SND1 EXON Synonymous_E286E exm655257 7 127361372 [T/C] NM_014390 SND1 EXON Missense_V357A exm2270687 7 127430974 [T/G] NM_014390 SND1 Silent exm655266 7 127447548 [A/G] NM_014390 SND1 EXON Missense_K388R exm655270 7 127484411 [C/G] NM_014390 SND1 EXON Missense_S426T exm655300 7 127668769 [T/G] NM_014390,NM_022143 SND1,LRRC4 EXON Silent,Missense_T642N exm655302 7 127668844 [T/C] NM_014390,NM_022143 SND1,LRRC4 EXON Silent,Missense_H617R exm655305 7 127668907 [A/G] NM_014390,NM_022143 SND1,LRRC4 EXON Silent,Missense_V596A exm655310 7 127668978 [G/C] NM_014390,NM_022143 SND1,LRRC4 EXON Silent,Missense_D572E exm655329 7 127669400 [T/G] NM_014390,NM_022143 SND1,LRRC4 EXON Silent,Missense_N432H exm655333 7 127669499 [A/G] NM_014390,NM_022143 SND1,LRRC4 EXON Silent,Missense_P399S exm655339 7 127669580 [A/G] NM_014390,NM_022143 SND1,LRRC4 EXON Silent,Missense_L372F exm655344 7 127669657 [T/G] NM_014390,NM_022143 SND1,LRRC4 EXON Silent,Missense_A346D exm655345 7 127669661 [C/G] NM_014390,NM_022143 SND1,LRRC4 EXON Silent,Missense_Q345E exm2138356 7 127670581 [A/G] NM_014390,NM_022143 SND1,LRRC4 EXON Silent,Missense_A38V exm655398 7 127670681 [A/C] NM_014390,NM_022143 SND1,LRRC4 EXON Silent,Missense_W5G exm655406 7 127714617 [A/G] NM_014390 SND1 EXON Missense_G615S exm655430 7 127725832 [T/C] NM_014390 SND1 EXON Synonymous_N768N exm655434 7 127727012 [A/G] NM_014390 SND1 EXON Missense_R776H exm2138372 7 127729628 [A/G] NM_014390 SND1 EXON Missense_G836S exm2262237 7 127830114 [T/C] exm2258110 7 127865816 [A/G] exm2258111 7 127892086 [C/G] NM_000230 LEP EXON Synonymous_T5T exm655457 7 127892124 [A/G] NM_000230 LEP EXON Missense_Y18C exm655466 7 127894592 [A/G] NM_000230 LEP EXON Missense_V94M exm655479 7 127950857 [T/C] NM_001166135,NM_018077 RBM28,RBM28 EXON Missense_D617G,Missense_D758G exm655483 7 127950945 [A/G] NM_001166135,NM_018077 RBM28,RBM28 EXON Missense_R588C,Missense_R729C exm655491 7 127953296 [A/G] NM_001166135,NM_018077 RBM28,RBM28 EXON Missense_H552Y,Missense_H693Y exm655497 7 127954847 [A/G] NM_001166135,NM_018077 RBM28,RBM28 EXON Missense_A531V,Missense_A672V exm655504 7 127955025 [T/G] NM_001166135,NM_018077 RBM28,RBM28 EXON Missense_P472T,Missense_P613T exm655505 7 127955045 [T/C] NM_001166135,NM_018077 RBM28,RBM28 EXON Missense_G465D,Missense_G606D exm655512 7 127961330 [A/G] NM_001166135,NM_018077 RBM28,RBM28 EXON Missense_R377C,Missense_R518C exm655524 7 127963597 [T/G] NM_001166135,NM_018077 RBM28,RBM28 EXON Missense_M322L,Missense_M463L exm2138398 7 127963629 [A/G] NM_001166135,NM_018077 RBM28,RBM28 EXON Missense_T311M,Missense_T452M exm655525 7 127964650 [A/G] NM_001166135,NM_018077 RBM28,RBM28 EXON Missense_P293L,Missense_P434L exm655532 7 127965924 [T/G] NM_001166135,NM_018077 RBM28,RBM28 EXON Missense_M243L,Missense_M384L exm655534 7 127970913 [T/A] NM_001166135,NM_018077 RBM28,RBM28 EXON Missense_Y222F,Missense_Y363F exm655538 7 127973408 [T/C] NM_001166135,NM_018077 RBM28,RBM28 EXON Missense_V178I,Missense_V319I exm655544 7 127975732 [T/C] NM_001166135,NM_018077 RBM28,RBM28 EXON Missense_A130T,Missense_A271T exm655546 7 127975953 [G/C] NM_001166135,NM_018077 RBM28,RBM28 EXON Missense_E112Q,Missense_E253Q exm655548 7 127975964 [T/C] NM_001166135,NM_018077 RBM28,RBM28 EXON Missense_D108G,Missense_D249G exm655549 7 127975992 [C/G] NM_001166135,NM_018077 RBM28,RBM28 EXON Missense_D99H,Missense_D240H exm655551 7 127977183 [A/G] NM_001166135,NM_018077 RBM28,RBM28 Silent,Silent exm655556 7 127978319 [T/C] NM_001166135,NM_018077 RBM28,RBM28 EXON Silent,Missense_M176V exm655563 7 127979297 [T/C] NM_001166135,NM_018077 RBM28,RBM28 EXON Silent,Missense_R119Q exm655566 7 127979348 [A/G] NM_001166135,NM_018077 RBM28,RBM28 EXON Silent,Missense_P102L exm655568 7 127979372 [T/G] NM_001166135,NM_018077 RBM28,RBM28 EXON Silent,Missense_N94T exm655569 7 127979373 [T/A] NM_001166135,NM_018077 RBM28,RBM28 EXON Silent,Missense_N94Y exm655572 7 127979737 [A/G] NM_001166135,NM_018077 RBM28,RBM28 EXON Silent,Missense_T76I exm655585 7 127991133 [A/G] NM_001114726,NM_001174164 PRRT4,PRRT4 EXON Silent,Missense_P826L exm655602 7 127998806 [T/A] NM_001114726,NM_001174164 PRRT4,PRRT4 EXON Missense_K269M,Missense_K269M exm2258112 7 127999291 [T/A] NM_001114726,NM_001174164 PRRT4,PRRT4 EXON Synonymous_T223T,Synonymous_T223T exm655607 7 127999459 [A/G] NM_001114726,NM_001174164 PRRT4,PRRT4 EXON Missense_T196M,Missense_T196M exm655608 7 127999580 [T/C] NM_001114726,NM_001174164 PRRT4,PRRT4 EXON Missense_D156N,Missense_D156N exm655610 7 127999645 [T/C] NM_001114726,NM_001174164 PRRT4,PRRT4 EXON Missense_R134Q,Missense_R134Q exm655612 7 127999849 [A/C] NM_001114726,NM_001174164 PRRT4,PRRT4 EXON Missense_V66G,Missense_V66G exm655613 7 127999918 [G/C] NM_001114726,NM_001174164 PRRT4,PRRT4 EXON Missense_S43T,Missense_S43T exm655636 7 128034653 [A/G] NM_001142574,NM_183243,NM_001142573,NM_001142576,NM_000883,NM_001142575,NM_001102605 IMPDH1,IMPDH1,IMPDH1,IMPDH1,IMPDH1,IMPDH1,IMPDH1 EXON Synonymous_S427S,Synonymous_S481S,Synonymous_S432S,Synonymous_S484S,Synonymous_S517S,Synonymous_S407S,Synonymous_S507S exm655645 7 128035057 [A/G] NM_001142574,NM_183243,NM_001142573,NM_001142576,NM_000883,NM_001142575,NM_001102605 IMPDH1,IMPDH1,IMPDH1,IMPDH1,IMPDH1,IMPDH1,IMPDH1 EXON Missense_T389M,Missense_T443M,Missense_T394M,Missense_T446M,Missense_T479M,Missense_T369M,Missense_T469M exm655661 7 128037043 [T/C] NM_001142574,NM_183243,NM_001142573,NM_001142576,NM_000883,NM_001142575,NM_001102605 IMPDH1,IMPDH1,IMPDH1,IMPDH1,IMPDH1,IMPDH1,IMPDH1 EXON Missense_A280T,Missense_A334T,Missense_A285T,Missense_A337T,Missense_A370T,Missense_A260T,Missense_A360T exm655676 7 128040182 [G/C] NM_001142574,NM_183243,NM_001142573,NM_001142576,NM_000883,NM_001142575,NM_001102605 IMPDH1,IMPDH1,IMPDH1,IMPDH1,IMPDH1,IMPDH1,IMPDH1 EXON Missense_E191Q,Missense_E245Q,Missense_E196Q,Missense_E248Q,Missense_E281Q,Missense_E171Q,Missense_E271Q exm655691 7 128040882 [A/G] NM_001142574,NM_183243,NM_001142573,NM_001142576,NM_000883,NM_001142575,NM_001102605 IMPDH1,IMPDH1,IMPDH1,IMPDH1,IMPDH1,IMPDH1,IMPDH1 EXON Silent,Missense_R154W,Missense_R105W,Missense_R157W,Missense_R190W,Silent,Missense_R180W exm655705 7 128049379 [T/C] NM_183243,NM_001142576,NM_000883,NM_001102605 IMPDH1,IMPDH1,IMPDH1,IMPDH1 EXON Silent,Missense_G73D,Missense_G73D,Missense_G63D exm655707 7 128049496 [T/C] NM_183243,NM_001142576,NM_000883,NM_001102605 IMPDH1,IMPDH1,IMPDH1,IMPDH1 EXON Silent,Synonymous_S63S,Synonymous_S63S,Silent exm655716 7 128097359 [A/G] NM_001098786,NM_013332 HILPDA,HILPDA EXON Missense_V13I,Missense_V13I exm655722 7 128097466 [A/C] NM_001098786,NM_013332 HILPDA,HILPDA EXON Missense_N48K,Missense_N48K exm655749 7 128119353 [A/G] NM_018396 METTL2B EXON Nonsense_W115X exm655763 7 128133883 [A/G] NM_018396 METTL2B EXON Missense_R232Q exm655767 7 128133984 [A/G] NM_018396 METTL2B EXON Missense_V266I exm655800 7 128312463 [C/G] NM_001012454,NM_001128926 FAM71F2,FAM71F2 EXON Missense_I4M,Missense_I4M exm655815 7 128315882 [A/C] NM_001012454,NM_001128926 FAM71F2,FAM71F2 EXON Missense_P112T,Missense_P103T exm655816 7 128315889 [A/T] NM_001012454,NM_001128926 FAM71F2,FAM71F2 EXON Missense_D114V,Missense_D105V exm655819 7 128317636 [C/G] NM_001012454,NM_001128926 FAM71F2,FAM71F2 EXON Nonsense_Y128X,Nonsense_Y119X exm655820 7 128317658 [T/C] NM_001012454,NM_001128926 FAM71F2,FAM71F2 EXON Missense_R136W,Missense_R127W exm655821 7 128317659 [A/G] NM_001012454,NM_001128926 FAM71F2,FAM71F2 EXON Missense_R136Q,Missense_R127Q exm655824 7 128317782 [T/G] NM_001012454,NM_001128926 FAM71F2,FAM71F2 EXON Missense_G177V,Missense_G168V exm655825 7 128317797 [T/C] NM_001012454,NM_001128926 FAM71F2,FAM71F2 EXON Missense_T182I,Missense_T173I exm655828 7 128320127 [T/C] NM_001012454,NM_001128926 FAM71F2,FAM71F2 EXON Missense_L220F,Missense_L211F exm655833 7 128323034 [A/G] NM_001012454,NM_001128926 FAM71F2,FAM71F2 EXON Missense_I251V,Missense_I242V exm655835 7 128323110 [A/G] NM_001012454,NM_001128926 FAM71F2,FAM71F2 EXON Missense_R276K,Missense_R267K exm-rs3807125 7 128354937 [A/G] exm655848 7 128355676 [T/C] NM_032599 FAM71F1 EXON Missense_R61W exm655853 7 128356894 [A/G] NM_032599 FAM71F1 EXON Missense_V93I exm655857 7 128357011 [T/C] NM_032599 FAM71F1 EXON Missense_W132R exm655858 7 128357013 [A/G] NM_032599 FAM71F1 EXON Nonsense_W132X exm2138523 7 128357021 [T/C] NM_032599 FAM71F1 EXON Missense_P135L exm2138528 7 128358952 [T/A] NM_032599 FAM71F1 EXON Missense_T168S exm655871 7 128359133 [T/C] NM_032599 FAM71F1 EXON Missense_S228L exm655873 7 128363287 [A/G] NM_032599 FAM71F1 EXON Missense_E242K exm655882 7 128366896 [G/C] NM_032599 FAM71F1 EXON Missense_R275T exm655885 7 128369971 [A/G] NM_032599 FAM71F1 EXON Missense_R290H exm2273438 7 128371288 [A/T] NM_032599 FAM71F1 EXON Silent exm2273439 7 128371298 [T/C] NM_032599 FAM71F1 EXON Silent exm655901 7 128388648 [A/G] NM_001130674,NM_001199672,NR_074086,NM_001199674,NM_001219,NM_001199671,NM_001199673 CALU,CALU,CALU,CALU,CALU,CALU,CALU EXON Missense_R4Q,Missense_R12Q,Silent,Silent,Missense_R4Q,Missense_R12Q,Missense_R4Q exm655906 7 128388756 [A/G] NM_001130674,NM_001199672,NR_074086,NM_001199674,NM_001219,NM_001199671,NM_001199673 CALU,CALU,CALU,CALU,CALU,CALU,CALU EXON Missense_N40S,Missense_N48S,Silent,Silent,Missense_N40S,Missense_N48S,Missense_N40S exm2138549 7 128413726 [T/C] NM_001708 OPN1SW EXON Missense_I302V exm655948 7 128413777 [A/C] NM_001708 OPN1SW EXON Missense_V285F exm655955 7 128413867 [C/G] NM_001708 OPN1SW EXON Missense_V255L exm655965 7 128414652 [T/C] NM_001708 OPN1SW EXON Missense_R196H exm655967 7 128415040 [T/C] NM_001708 OPN1SW EXON Missense_R174Q exm655968 7 128415041 [A/G] NM_001708 OPN1SW EXON Missense_R174W exm655969 7 128415071 [T/C] NM_001708 OPN1SW EXON Missense_V164I exm655989 7 128415568 [T/C] NM_001708 OPN1SW EXON Missense_V93I exm655993 7 128415610 [T/C] NM_001708 OPN1SW EXON Missense_G79R exm656011 7 128415802 [T/G] NM_001708 OPN1SW EXON Missense_I15L exm656015 7 128415831 [A/G] NM_001708 OPN1SW EXON Missense_S5L exm656021 7 128432446 [T/G] NM_001201372,NM_022742 CCDC136,CCDC136 EXON Missense_G44V,Silent exm656024 7 128434485 [A/G] NM_001201372,NM_022742 CCDC136,CCDC136 EXON Missense_V84M,Missense_V34M exm656025 7 128434498 [A/G] NM_001201372,NM_022742 CCDC136,CCDC136 EXON Missense_G88D,Missense_G38D exm656039 7 128441408 [A/G] NM_001201372,NM_022742 CCDC136,CCDC136 EXON Missense_Q222R,Missense_Q172R exm656040 7 128441413 [T/G] NM_001201372,NM_022742 CCDC136,CCDC136 EXON Missense_D224Y,Missense_D174Y exm656042 7 128441452 [T/C] NM_001201372,NM_022742 CCDC136,CCDC136 EXON Missense_R237C,Missense_R187C exm656046 7 128441492 [A/G] NM_001201372,NM_022742 CCDC136,CCDC136 EXON Missense_R250H,Missense_R200H exm656049 7 128441545 [G/C] NM_001201372,NM_022742 CCDC136,CCDC136 EXON Silent,Missense_D218H exm656051 7 128444721 [T/C] NM_001201372,NM_022742 CCDC136,CCDC136 EXON Missense_R268W,Missense_R230W exm656058 7 128445463 [T/C] NM_001201372,NM_022742 CCDC136,CCDC136 EXON Missense_T316M,Missense_T278M exm656059 7 128445490 [T/C] NM_001201372,NM_022742 CCDC136,CCDC136 EXON Missense_M325T,Missense_M287T exm656061 7 128445504 [T/C] NM_001201372,NM_022742 CCDC136,CCDC136 EXON Missense_P330S,Missense_P292S exm656070 7 128446382 [A/G] NM_001201372,NM_022742 CCDC136,CCDC136 EXON Silent,Missense_Q394R exm656074 7 128446787 [A/G] NM_001201372,NM_022742 CCDC136,CCDC136 EXON Silent,Missense_V432I exm656090 7 128449696 [A/G] NM_001201372,NM_022742 CCDC136,CCDC136 EXON Silent,Missense_K600E exm656095 7 128450284 [A/G] NM_001201372,NM_022742 CCDC136,CCDC136 EXON Silent,Missense_N631S exm656122 7 128452816 [A/G] NM_001201372,NM_022742 CCDC136,CCDC136 EXON Silent,Missense_M866V exm656133 7 128454716 [T/C] NM_001201372,NM_022742 CCDC136,CCDC136 EXON Silent,Missense_R930W exm656138 7 128454863 [T/C] NM_001201372,NM_022742 CCDC136,CCDC136 EXON Silent,Missense_R979W exm656140 7 128454866 [A/G] NM_001201372,NM_022742 CCDC136,CCDC136 EXON Silent,Missense_G980R exm656143 7 128454939 [T/C] NM_001201372,NM_022742 CCDC136,CCDC136 EXON Silent,Missense_S1004L exm656144 7 128454943 [T/G] NM_001201372,NM_022742 CCDC136,CCDC136 EXON Silent,Missense_D1005E exm2258115 7 128454955 [T/C] NM_001201372,NM_022742 CCDC136,CCDC136 EXON Silent,Synonymous_S1009S exm656145 7 128454955 [T/C] NM_001201372,NM_022742 CCDC136,CCDC136 EXON Silent,Synonymous_S1009S exm656149 7 128455734 [A/G] NM_001201372,NM_022742 CCDC136,CCDC136 EXON Silent,Missense_E1038K exm656151 7 128455767 [G/C] NM_001201372,NM_022742 CCDC136,CCDC136 EXON Silent,Missense_Q1049E exm656152 7 128455834 [T/A] NM_001201372,NM_022742 CCDC136,CCDC136 EXON Silent,Missense_E1071V exm656172 7 128470712 [A/C] NM_001458,NM_001127487 FLNC,FLNC EXON Nonsense_Y7X,Nonsense_Y7X exm656192 7 128475627 [T/C] NM_001458,NM_001127487 FLNC,FLNC EXON Synonymous_P200P,Synonymous_P200P exm656215 7 128478354 [T/C] NM_001458,NM_001127487 FLNC,FLNC EXON Missense_R361C,Missense_R361C exm656244 7 128480184 [A/G] NM_001458,NM_001127487 FLNC,FLNC EXON Missense_G507R,Missense_G507R exm656246 7 128480620 [T/C] NM_001458,NM_001127487 FLNC,FLNC EXON Missense_V523A,Missense_V523A exm656247 7 128480629 [A/G] NM_001458,NM_001127487 FLNC,FLNC EXON Missense_R526Q,Missense_R526Q exm656248 7 128480652 [A/G] NM_001458,NM_001127487 FLNC,FLNC EXON Missense_E534K,Missense_E534K exm2138628 7 128480658 [A/G] NM_001458,NM_001127487 FLNC,FLNC EXON Missense_E536K,Missense_E536K exm656270 7 128481541 [A/G] NM_001458,NM_001127487 FLNC,FLNC EXON Missense_G681S,Missense_G681S exm656272 7 128481568 [T/C] NM_001458,NM_001127487 FLNC,FLNC EXON Missense_F690L,Missense_F690L exm656274 7 128481578 [A/C] NM_001458,NM_001127487 FLNC,FLNC EXON Missense_D693A,Missense_D693A exm656279 7 128482288 [A/G] NM_001458,NM_001127487 FLNC,FLNC EXON Missense_A709T,Missense_A709T exm656283 7 128482343 [A/G] NM_001458,NM_001127487 FLNC,FLNC EXON Missense_R727H,Missense_R727H exm2258116 7 128482362 [G/C] NM_001458,NM_001127487 FLNC,FLNC EXON Synonymous_T733T,Synonymous_T733T exm2244969 7 128482651 [A/G] NM_001458,NM_001127487 FLNC,FLNC EXON Missense_H763R,Missense_H763R exm656291 7 128482659 [T/C] NM_001458,NM_001127487 FLNC,FLNC EXON Missense_R766W,Missense_R766W exm656303 7 128482908 [T/C] NM_001458,NM_001127487 FLNC,FLNC EXON Missense_I817T,Missense_I817T exm656305 7 128482959 [T/C] NM_001458,NM_001127487 FLNC,FLNC EXON Missense_T834M,Missense_T834M exm656313 7 128483328 [A/G] NM_001458,NM_001127487 FLNC,FLNC EXON Missense_D866N,Missense_D866N exm2138654 7 128483506 [A/G] NM_001458,NM_001127487 FLNC,FLNC EXON Missense_G896R,Missense_G896R exm656321 7 128483567 [A/G] NM_001458,NM_001127487 FLNC,FLNC EXON Missense_R916Q,Missense_R916Q exm656334 7 128484183 [T/G] NM_001458,NM_001127487 FLNC,FLNC EXON Missense_G1019C,Missense_G1019C exm656340 7 128484261 [A/C] NM_001458,NM_001127487 FLNC,FLNC EXON Missense_H1045N,Missense_H1045N exm656355 7 128485111 [G/C] NM_001458,NM_001127487 FLNC,FLNC EXON Missense_V1198L,Missense_V1198L exm656358 7 128485142 [T/C] NM_001458,NM_001127487 FLNC,FLNC EXON Missense_A1208V,Missense_A1208V exm656364 7 128485240 [T/C] NM_001458,NM_001127487 FLNC,FLNC EXON Missense_R1241C,Missense_R1241C exm656367 7 128485276 [A/G] NM_001458,NM_001127487 FLNC,FLNC EXON Missense_V1253I,Missense_V1253I exm656384 7 128486356 [T/C] NM_001458,NM_001127487 FLNC,FLNC EXON Synonymous_G1322G,Synonymous_G1322G exm656387 7 128486412 [A/G] NM_001458,NM_001127487 FLNC,FLNC EXON Missense_R1341Q,Missense_R1341Q exm656390 7 128486487 [A/G] NM_001458,NM_001127487 FLNC,FLNC EXON Missense_N1366S,Missense_N1366S exm656418 7 128488095 [A/G] NM_001458,NM_001127487 FLNC,FLNC EXON Missense_K1518R,Missense_K1518R exm656431 7 128488734 [A/G] NM_001458,NM_001127487 FLNC,FLNC EXON Missense_R1567Q,Missense_R1567Q exm656434 7 128488872 [G/C] NM_001458,NM_001127487 FLNC,FLNC EXON Missense_A1588G,Missense_A1588G exm656459 7 128489576 [A/G] NM_001458,NM_001127487 FLNC,FLNC EXON Missense_V1715I,Missense_V1715I exm656462 7 128490051 [A/G] NM_001458,NM_001127487 FLNC,FLNC EXON Missense_E1741K,Silent exm656469 7 128490450 [G/C] NM_001458,NM_001127487 FLNC,FLNC EXON Missense_P1771A,Missense_P1738A exm656477 7 128490868 [T/A] NM_001458,NM_001127487 FLNC,FLNC EXON Missense_M1804L,Missense_M1771L exm656488 7 128491324 [T/C] NM_001458,NM_001127487 FLNC,FLNC EXON Missense_R1860C,Missense_R1827C exm656490 7 128491390 [A/G] NM_001458,NM_001127487 FLNC,FLNC EXON Missense_I1882V,Missense_I1849V exm656497 7 128491604 [A/G] NM_001458,NM_001127487 FLNC,FLNC EXON Missense_A1922T,Missense_A1889T exm656511 7 128492756 [T/C] NM_001458,NM_001127487 FLNC,FLNC EXON Missense_S1985L,Missense_S1952L exm656522 7 128493052 [A/G] NM_001458,NM_001127487 FLNC,FLNC EXON Missense_V2059M,Missense_V2026M exm2138726 7 128494730 [A/G] NM_001458,NM_001127487 FLNC,FLNC EXON Missense_V2331M,Missense_V2298M exm656564 7 128494922 [A/G] NM_001458,NM_001127487 FLNC,FLNC EXON Missense_R2364H,Missense_R2331H exm656572 7 128496576 [T/C] NM_001458,NM_001127487 FLNC,FLNC EXON Missense_T2419M,Missense_T2386M exm656574 7 128496609 [T/C] NM_001458,NM_001127487 FLNC,FLNC EXON Missense_A2430V,Missense_A2397V exm656595 7 128497219 [A/G] NM_001458,NM_001127487 FLNC,FLNC EXON Missense_A2537T,Missense_A2504T exm656596 7 128497224 [T/G] NM_001458,NM_001127487 FLNC,FLNC EXON Missense_L2538F,Missense_L2505F exm656623 7 128502969 [T/G] NM_001198909,NM_004231 ATP6V1F,ATP6V1F EXON Missense_R4M,Missense_R4M exm656624 7 128502972 [T/G] NM_001198909,NM_004231 ATP6V1F,ATP6V1F EXON Missense_G5V,Missense_G5V exm656632 7 128503115 [T/C] NM_001198909,NM_004231 ATP6V1F,ATP6V1F EXON Missense_R53C,Missense_R53W exm2244976 7 128505224 [A/G] NM_001198909,NM_004231 ATP6V1F,ATP6V1F EXON Missense_R70H,Silent exm656633 7 128505233 [T/C] NM_001198909,NM_004231 ATP6V1F,ATP6V1F EXON Missense_P73L,Silent exm656634 7 128505444 [T/C] NM_001198909,NM_004231 ATP6V1F,ATP6V1F EXON Missense_R86W,Missense_R58W exm656635 7 128505453 [A/G] NM_001198909,NM_004231 ATP6V1F,ATP6V1F EXON Missense_I89V,Missense_I61V exm2138756 7 128505573 [A/G] NM_001198909,NM_004231 ATP6V1F,ATP6V1F EXON Missense_A129T,Missense_A101T exm656643 7 128506470 [T/C] NM_001195150 LOC100130705 EXON Missense_R3W exm2262238 7 128507297 [T/C] NM_001195150 LOC100130705 Silent exm656650 7 128517183 [T/C] NM_001135914 KCP EXON Synonymous_P1475P exm656668 7 128518631 [A/G] NM_001135914 KCP EXON Missense_R1306C exm656669 7 128518691 [T/A] NM_001135914 KCP EXON Missense_M1286L exm656670 7 128518704 [A/C] NM_001135914 KCP EXON Synonymous_S1281S exm656673 7 128519849 [T/C] NM_001135914 KCP EXON Synonymous_A1197A exm656680 7 128520118 [A/G] NM_001135914 KCP EXON Synonymous_V1135V exm656681 7 128520441 [C/G] NM_001135914 KCP EXON Missense_P1128A exm656689 7 128524148 [T/C] NM_001135914 KCP EXON Missense_A990T exm656701 7 128526788 [C/G] NM_001135914 KCP EXON Missense_V837L exm656703 7 128526974 [T/C] NM_001135914 KCP EXON Missense_A821T exm656706 7 128527008 [A/G] NM_001135914 KCP EXON Synonymous_C809C exm656707 7 128527016 [A/C] NM_001135914 KCP EXON Missense_V807F exm656710 7 128527355 [A/C] NM_001135914 KCP Silent exm656719 7 128530552 [T/C] NM_001135914,NM_199349 KCP,KCP EXON Missense_G666R,Missense_G727R exm656727 7 128531765 [T/C] NM_001135914,NM_199349 KCP,KCP EXON Missense_A519T,Missense_A577T exm656731 7 128531833 [T/G] NM_001135914,NM_199349 KCP,KCP EXON Missense_A496D,Missense_A554D exm656734 7 128532610 [T/C] NM_001135914,NM_199349 KCP,KCP EXON Synonymous_P468P,Synonymous_P526P exm656740 7 128532842 [T/C] NM_001135914,NM_199349 KCP,KCP EXON Missense_A418T,Missense_A476T exm656744 7 128533018 [T/C] NM_001135914,NM_199349 KCP,KCP EXON Missense_G384S,Missense_G442S exm656751 7 128534256 [A/C] NM_001135914,NM_199349 KCP,KCP EXON Missense_D250Y,Missense_D308Y exm656771 7 128547204 [T/C] NM_001135914,NM_199349 KCP,KCP EXON Missense_G146S,Missense_G146S exm2244980 7 128547438 [C/G] NM_001135914,NM_199349 KCP,KCP EXON Missense_C96W,Missense_C96W exm656781 7 128548558 [T/C] NM_001135914,NM_199349 KCP,KCP EXON Missense_G47E,Missense_G47E exm-rs4728142 7 128573967 [A/G] exm656785 7 128582151 [C/G] NM_001242452,NM_001098630,NM_001098629,NM_032643,NM_001098627 IRF5,IRF5,IRF5,IRF5,IRF5 EXON Missense_P6A,Missense_P6A,Missense_P6A,Missense_P6A,Missense_P6A exm656796 7 128582309 [T/C] NM_001242452,NM_001098630,NM_001098629,NM_032643,NM_001098627 IRF5,IRF5,IRF5,IRF5,IRF5 EXON Synonymous_D58D,Synonymous_D58D,Synonymous_D58D,Synonymous_D58D,Synonymous_D58D exm2258118 7 128582309 [T/C] NM_001242452,NM_001098630,NM_001098629,NM_032643,NM_001098627 IRF5,IRF5,IRF5,IRF5,IRF5 EXON Synonymous_D58D,Synonymous_D58D,Synonymous_D58D,Synonymous_D58D,Synonymous_D58D exm2138769 7 128586616 [A/G] NM_001242452,NM_001098630,NM_001098629,NM_032643,NM_001098627 IRF5,IRF5,IRF5,IRF5,IRF5 EXON Synonymous_E149E,Synonymous_E149E,Synonymous_E149E,Synonymous_E149E,Synonymous_E149E exm656827 7 128587524 [T/C] NM_001242452,NM_001098630,NM_001098629,NM_032643,NM_001098627 IRF5,IRF5,IRF5,IRF5,IRF5 EXON Silent,Missense_A225V,Missense_A241V,Missense_A225V,Missense_A225V exm656847 7 128588831 [A/G] NM_001242452,NM_001098630,NM_001098629,NM_032643,NM_001098627 IRF5,IRF5,IRF5,IRF5,IRF5 EXON Missense_G400S,Missense_G486S,Missense_G502S,Missense_G486S,Missense_G486S exm-rs10488631 7 128594183 [T/C] exm656850 7 128597340 [A/G] NM_001191028,NR_034053,NM_012470 TNPO3,TNPO3,TNPO3 EXON Missense_A850V,Silent,Missense_A914V exm2270688 7 128597804 [T/C] NM_001191028,NR_034053,NM_012470 TNPO3,TNPO3,TNPO3 Silent,Silent,Silent exm656854 7 128607436 [T/C] NM_001191028,NR_034053,NM_012470 TNPO3,TNPO3,TNPO3 EXON Missense_R806Q,Silent,Missense_R870Q exm-rs12531711 7 128617466 [A/G] NM_001191028,NR_034053,NM_012470 TNPO3,TNPO3,TNPO3 Silent,Silent,Silent exm656888 7 128630089 [A/G] NM_001191028,NR_034053,NM_012470 TNPO3,TNPO3,TNPO3 EXON Missense_T475M,Silent,Missense_T475M exm656925 7 128658057 [A/G] NM_001191028,NR_034053,NM_012470 TNPO3,TNPO3,TNPO3 EXON Missense_T92I,Silent,Missense_T92I exm-rs12537284 7 128717906 [A/G] exm656958 7 128802734 [A/G] NM_178562 TSPAN33 EXON Missense_V117I exm656964 7 128804395 [T/A] NM_178562 TSPAN33 EXON Missense_D148E exm656982 7 128807709 [A/G] NM_178562 TSPAN33 EXON Nonsense_W282X exm656999 7 128843396 [A/G] NM_005631 SMO EXON Missense_R168H exm657001 7 128843410 [T/C] NM_005631 SMO EXON Missense_R173C exm657002 7 128843411 [A/G] NM_005631 SMO EXON Missense_R173H exm2138856 7 128843429 [T/C] NM_005631 SMO EXON Missense_T179M exm2258120 7 128845097 [A/G] NM_005631 SMO EXON Synonymous_L197L exm657012 7 128845178 [T/G] NM_005631 SMO EXON Missense_E224D exm657014 7 128845210 [T/C] NM_005631 SMO EXON Missense_A235V exm657024 7 128845511 [A/G] NM_005631 SMO EXON Missense_V270I exm657026 7 128845539 [T/C] NM_005631 SMO EXON Missense_I279T exm657073 7 128851478 [A/G] NM_005631 SMO EXON Synonymous_A601A exm657079 7 128851596 [G/C] NM_005631 SMO EXON Missense_P641A exm657081 7 128851867 [T/C] NM_005631 SMO EXON Missense_P647S exm657090 7 128852021 [G/C] NM_005631 SMO EXON Missense_P698R exm657093 7 128852105 [A/G] NM_005631 SMO EXON Missense_R726Q exm2138900 7 128852155 [A/C] NM_005631 SMO EXON Missense_P743T exm657121 7 128865207 [T/G] NM_015328,NM_001130720 AHCYL2,AHCYL2 EXON Missense_R97L,Missense_R97L exm-rs7787531 7 129023597 [T/C] NM_015328,NM_001130720,NM_001130723,NM_001130722 AHCYL2,AHCYL2,AHCYL2,AHCYL2 Silent,Silent,Silent,Silent exm657183 7 129079918 [A/C] NM_020704,NM_001134336 STRIP2,STRIP2 EXON Missense_A62E,Missense_A62E exm657186 7 129091490 [C/G] NM_020704,NM_001134336 STRIP2,STRIP2 EXON Missense_A104G,Missense_A104G exm657187 7 129091504 [A/G] NM_020704,NM_001134336 STRIP2,STRIP2 EXON Missense_I109V,Missense_I109V exm657206 7 129094330 [A/G] NM_020704,NM_001134336 STRIP2,STRIP2 EXON Missense_G223E,Missense_G223E exm2138955 7 129095138 [A/G] NM_020704,NM_001134336 STRIP2,STRIP2 EXON Missense_T254A,Missense_T254A exm657216 7 129096370 [T/C] NM_020704,NM_001134336 STRIP2,STRIP2 EXON Nonsense_Q309X,Nonsense_Q309X exm657225 7 129098062 [T/C] NM_020704,NM_001134336 STRIP2,STRIP2 EXON Missense_L349F,Missense_L349F exm657227 7 129098125 [A/G] NM_020704,NM_001134336 STRIP2,STRIP2 EXON Missense_A370T,Missense_A370T exm657239 7 129100173 [T/G] NM_020704,NM_001134336 STRIP2,STRIP2 EXON Missense_I479S,Missense_I479S exm657252 7 129107200 [T/G] NM_020704,NM_001134336 STRIP2,STRIP2 EXON Missense_V596L,Missense_V596L exm657255 7 129110498 [A/T] NM_020704,NM_001134336 STRIP2,STRIP2 EXON Missense_V629D,Missense_V629D exm657257 7 129110513 [C/G] NM_020704,NM_001134336 STRIP2,STRIP2 EXON Missense_C634S,Missense_C634S exm657265 7 129120729 [T/G] NM_020704,NM_001134336 STRIP2,STRIP2 EXON Missense_M683R,Missense_M683R exm657272 7 129122834 [T/C] NM_020704,NM_001134336 STRIP2,STRIP2 EXON Missense_A734V,Missense_A734V exm657281 7 129125495 [A/G] NM_020704 STRIP2 EXON Missense_R777H exm657286 7 129125603 [A/G] NM_020704 STRIP2 EXON Missense_E813G exm657292 7 129152191 [A/G] NM_001195243 SMKR1 EXON Missense_Y36C exm2270689 7 129171989 [T/C] exm2262239 7 129254997 [T/G] NM_005011 NRF1 Silent exm657301 7 129297309 [C/G] NM_005011,NM_001040110 NRF1,NRF1 EXON Missense_A40P,Missense_A40P exm2270690 7 129434292 [T/C] exm657389 7 129662352 [T/C] NM_016478 ZC3HC1 EXON Missense_R416Q exm657395 7 129663496 [T/C] NM_016478 ZC3HC1 EXON Missense_R363H exm657397 7 129663532 [T/C] NM_016478 ZC3HC1 EXON Missense_R351Q exm657403 7 129664210 [T/C] NM_016478 ZC3HC1 EXON Missense_I305V exm657409 7 129664312 [T/C] NM_016478 ZC3HC1 EXON Missense_T271A exm657420 7 129668746 [A/G] NM_016478 ZC3HC1 EXON Missense_T206I exm657422 7 129668810 [G/C] NM_016478 ZC3HC1 EXON Missense_R185G exm657424 7 129668836 [C/G] NM_016478 ZC3HC1 EXON Missense_A176G exm657425 7 129668856 [T/C] NM_016478 ZC3HC1 EXON Missense_M169I exm2139035 7 129679363 [T/G] NM_016478 ZC3HC1 EXON Missense_K145T exm657430 7 129680877 [A/C] NM_016478 ZC3HC1 EXON Missense_V108G exm657444 7 129691082 [A/G] NM_016478 ZC3HC1 EXON Missense_P42L exm657445 7 129691101 [T/C] NM_016478 ZC3HC1 EXON Missense_I36V exm657448 7 129691124 [T/G] NM_016478 ZC3HC1 EXON Missense_T28N exm657451 7 129710488 [T/C] NM_014997 KLHDC10 EXON Missense_S2L exm657505 7 129818350 [A/C] NM_032842 TMEM209 EXON Missense_L380V exm657506 7 129818356 [T/C] NM_032842 TMEM209 EXON Missense_T378A exm657510 7 129821552 [T/C] NM_032842 TMEM209 EXON Missense_N344S exm2244993 7 129824051 [T/C] NM_032842 TMEM209 EXON Missense_M332I exm657512 7 129825030 [A/G] NM_032842 TMEM209 Silent exm2139084 7 129832545 [A/T] NM_032842 TMEM209 EXON Missense_D231V exm657521 7 129832656 [G/C] NM_032842 TMEM209 EXON Missense_S194T exm657525 7 129841718 [A/G] NM_032842 TMEM209 EXON Missense_T182I exm657531 7 129841826 [T/C] NM_032842 TMEM209 EXON Missense_R146H exm2244994 7 129855818 [A/C] NM_145268 C7orf45 EXON Missense_S81R exm657567 7 129855837 [T/C] NM_145268 C7orf45 EXON Missense_R88W exm657568 7 129855838 [A/G] NM_145268 C7orf45 EXON Missense_R88Q exm657572 7 129855993 [G/C] NM_145268 C7orf45 EXON Missense_Q140E exm657577 7 129856075 [C/G] NM_145268 C7orf45 EXON Missense_S167T exm657578 7 129856123 [A/T] NM_145268 C7orf45 EXON Missense_Q183L exm657580 7 129856207 [T/C] NM_145268 C7orf45 EXON Missense_A211V exm657584 7 129856240 [T/C] NM_145268 C7orf45 EXON Missense_P222L exm2139113 7 129908848 [T/C] NM_001869 CPA2 EXON Nonsense_Q51X exm657600 7 129909618 [A/G] NM_001869 CPA2 EXON Missense_Y88C exm657611 7 129915016 [A/G] NM_001869 CPA2 EXON Missense_I172V exm657612 7 129915048 [C/G] NM_001869 CPA2 EXON Missense_E182D exm2139119 7 129915059 [A/C] NM_001869 CPA2 EXON Missense_Q186P exm657623 7 129917678 [T/C] NM_001869 CPA2 EXON Missense_R237W exm657625 7 129917687 [T/C] NM_001869 CPA2 EXON Missense_R240W exm657636 7 129919462 [A/G] NM_001869 CPA2 EXON Missense_Y316C exm657649 7 129929468 [A/C] NM_001869 CPA2 EXON Missense_L381M exm657650 7 129929484 [A/G] NM_001869 CPA2 EXON Missense_R386H exm657665 7 129938598 [T/G] NM_016352,NM_001163446 CPA4,CPA4 EXON Missense_L27F,Missense_L27F exm657674 7 129939221 [A/G] NM_016352,NM_001163446 CPA4,CPA4 EXON Missense_A88T,Missense_A88T exm657679 7 129940755 [G/C] NM_016352,NM_001163446 CPA4,CPA4 Silent,Silent exm2244995 7 129944402 [A/C] NM_016352,NM_001163446 CPA4,CPA4 EXON Missense_P157T,Missense_P124T exm657698 7 129946712 [T/A] NM_016352,NM_001163446 CPA4,CPA4 EXON Missense_D226V,Missense_D193V exm657705 7 129948221 [A/G] NM_016352,NM_001163446 CPA4,CPA4 EXON Nonsense_W259X,Nonsense_W226X exm657706 7 129948225 [T/G] NM_016352,NM_001163446 CPA4,CPA4 EXON Missense_A261S,Missense_A228S exm657709 7 129950656 [A/G] NM_016352,NM_001163446 CPA4,CPA4 EXON Missense_E275K,Missense_E242K exm657715 7 129950726 [A/G] NM_016352,NM_001163446 CPA4,CPA4 EXON Missense_H298R,Missense_H265R exm657716 7 129950740 [T/G] NM_016352,NM_001163446 CPA4,CPA4 EXON Missense_G303C,Missense_G270C exm657720 7 129950826 [T/C] NM_016352,NM_001163446 CPA4,CPA4 EXON Synonymous_L331L,Synonymous_L298L exm657722 7 129951878 [A/G] NM_016352,NM_001163446 CPA4,CPA4 EXON Missense_D332N,Missense_D299N exm657726 7 129962340 [A/G] NM_016352,NM_001163446 CPA4,CPA4 EXON Missense_G364R,Missense_G331R exm657728 7 129962366 [A/C] NM_016352,NM_001163446 CPA4,CPA4 EXON Missense_D372E,Missense_D339E exm657731 7 129962439 [T/C] NM_016352,NM_001163446 CPA4,CPA4 EXON Nonsense_Q397X,Nonsense_Q364X exm657735 7 129962488 [T/C] NM_016352,NM_001163446 CPA4,CPA4 EXON Missense_M413T,Missense_M380T exm657738 7 129962500 [T/G] NM_016352,NM_001163446 CPA4,CPA4 EXON Missense_R417L,Missense_R384L exm2244997 7 129984630 [A/G] NM_080385,NM_001127441,NM_001127442 CPA5,CPA5,CPA5 EXON Silent,Silent,Silent exm657750 7 129986363 [T/C] NM_080385,NM_001127441,NM_001127442 CPA5,CPA5,CPA5 EXON Missense_P13S,Missense_P13S,Missense_P13S exm657751 7 129986433 [A/G] NM_080385,NM_001127441,NM_001127442 CPA5,CPA5,CPA5 EXON Missense_N36S,Missense_N36S,Missense_N36S exm657758 7 129989828 [T/C] NM_080385,NM_001127441,NM_001127442 CPA5,CPA5,CPA5 EXON Missense_R71C,Missense_R71C,Missense_R71C exm657760 7 129989841 [A/G] NM_080385,NM_001127441,NM_001127442 CPA5,CPA5,CPA5 EXON Missense_R75K,Missense_R75K,Missense_R75K exm657761 7 129989850 [T/C] NM_080385,NM_001127441,NM_001127442 CPA5,CPA5,CPA5 EXON Missense_L78P,Missense_L78P,Missense_L78P exm657762 7 129989852 [T/C] NM_080385,NM_001127441,NM_001127442 CPA5,CPA5,CPA5 EXON Missense_P79S,Missense_P79S,Missense_P79S exm2258123 7 129989878 [T/C] NM_080385,NM_001127441,NM_001127442 CPA5,CPA5,CPA5 EXON Synonymous_S87S,Synonymous_S87S,Synonymous_S87S exm657769 7 129999473 [A/G] NM_080385,NM_001127441,NM_001127442 CPA5,CPA5,CPA5 EXON Missense_R126Q,Missense_R126Q,Missense_R126Q exm657770 7 129999481 [T/C] NM_080385,NM_001127441,NM_001127442 CPA5,CPA5,CPA5 EXON Missense_R129C,Missense_R129C,Missense_R129C exm657771 7 129999482 [A/G] NM_080385,NM_001127441,NM_001127442 CPA5,CPA5,CPA5 EXON Missense_R129H,Missense_R129H,Missense_R129H exm657774 7 130001046 [T/G] NM_080385,NM_001127441,NM_001127442 CPA5,CPA5,CPA5 EXON Missense_I165M,Missense_I165M,Missense_I165M exm657779 7 130002307 [T/C] NM_080385,NM_001127441,NM_001127442 CPA5,CPA5,CPA5 EXON Missense_A188V,Missense_A188V,Missense_A188V exm657785 7 130002360 [A/G] NM_080385,NM_001127441,NM_001127442 CPA5,CPA5,CPA5 EXON Missense_G206S,Missense_G206S,Missense_G206S exm657786 7 130002732 [A/G] NM_080385,NM_001127441,NM_001127442 CPA5,CPA5,CPA5 EXON Missense_S215N,Missense_S215N,Missense_S215N exm657789 7 130002797 [A/G] NM_080385,NM_001127441,NM_001127442 CPA5,CPA5,CPA5 EXON Missense_V237I,Missense_V237I,Missense_V237I exm657797 7 130007270 [T/C] NM_080385,NM_001127441,NM_001127442 CPA5,CPA5,CPA5 EXON Missense_S299L,Missense_S299L,Missense_S299L exm657798 7 130007276 [T/C] NM_080385,NM_001127441,NM_001127442 CPA5,CPA5,CPA5 EXON Missense_P301L,Missense_P301L,Missense_P301L exm657803 7 130007381 [T/C] NM_080385,NM_001127441,NM_001127442 CPA5,CPA5,CPA5 EXON Missense_L336S,Missense_L336S,Missense_L336S exm657804 7 130007388 [T/G] NM_080385,NM_001127441,NM_001127442 CPA5,CPA5,CPA5 EXON Missense_E338D,Missense_E338D,Missense_E338D exm657813 7 130008259 [A/G] NM_080385,NM_001127441,NM_001127442 CPA5,CPA5,CPA5 EXON Missense_S378G,Missense_S378G,Synonymous_P349P exm657815 7 130008285 [T/C] NM_080385,NM_001127441,NM_001127442 CPA5,CPA5,CPA5 EXON Synonymous_Y386Y,Synonymous_Y386Y,Missense_M358T exm657816 7 130008289 [A/G] NM_080385,NM_001127441,NM_001127442 CPA5,CPA5,CPA5 EXON Missense_S388G,Missense_S388G,Synonymous_T359T exm657817 7 130008330 [T/C] NM_080385,NM_001127441,NM_001127442 CPA5,CPA5,CPA5 EXON Synonymous_T401T,Synonymous_T401T,Missense_L373P exm657819 7 130008374 [T/C] NM_080385,NM_001127441,NM_001127442 CPA5,CPA5,CPA5 EXON Missense_T416M,Missense_T416M,Missense_R388W exm657827 7 130020366 [A/G] NM_001868 CPA1 EXON Missense_R2Q exm657828 7 130020386 [T/G] NM_001868 CPA1 EXON Missense_V9F exm657830 7 130020952 [T/C] NM_001868 CPA1 EXON Nonsense_R27X exm657832 7 130021010 [T/A] NM_001868 CPA1 EXON Missense_E46V exm657837 7 130021604 [A/G] NM_001868 CPA1 EXON Missense_Q94R exm657845 7 130021694 [T/C] NM_001868 CPA1 EXON Missense_T124I exm2139209 7 130021977 [G/C] NM_001868 CPA1 EXON Missense_A137G exm2258124 7 130022041 [T/C] NM_001868 CPA1 EXON Synonymous_Y158Y exm657854 7 130023245 [A/G] NM_001868 CPA1 EXON Missense_G166D exm657855 7 130023254 [A/G] NM_001868 CPA1 EXON Missense_R169H exm657860 7 130023543 [A/C] NM_001868 CPA1 EXON Missense_Q202K exm657863 7 130023561 [A/G] NM_001868 CPA1 EXON Missense_A208T exm657870 7 130023634 [T/C] NM_001868 CPA1 EXON Missense_T232M exm657871 7 130023635 [A/G] NM_001868 CPA1 EXON Synonymous_T232T exm2139222 7 130025713 [A/G] NM_001868 CPA1 EXON Missense_A341T exm657920 7 130038789 [C/G] NM_018718,NM_001257158,NM_001257159,NR_046443 CEP41,CEP41,CEP41,CEP41 EXON Missense_S355R,Missense_S283R,Missense_S267R,Silent exm657925 7 130038845 [A/G] NM_018718,NM_001257158,NM_001257159,NR_046443 CEP41,CEP41,CEP41,CEP41 EXON Missense_S337P,Missense_S265P,Missense_S249P,Silent exm657934 7 130040551 [T/C] NM_018718,NM_001257158,NM_001257159,NR_046443 CEP41,CEP41,CEP41,CEP41 EXON Missense_G252R,Missense_G252R,Missense_G236R,Silent exm657935 7 130040587 [A/C] NM_018718,NM_001257158,NM_001257159,NR_046443 CEP41,CEP41,CEP41,CEP41 EXON Missense_C240G,Missense_C240G,Missense_C224G,Silent exm657936 7 130040589 [A/G] NM_018718,NM_001257158,NM_001257159,NR_046443 CEP41,CEP41,CEP41,CEP41 EXON Missense_M239T,Missense_M239T,Missense_M223T,Silent exm657942 7 130041748 [C/G] NM_018718,NM_001257158,NM_001257159,NR_046443 CEP41,CEP41,CEP41,CEP41 EXON Missense_P206A,Missense_P206A,Missense_P190A,Silent exm657948 7 130042632 [T/C] NM_018718,NM_001257158,NM_001257159,NR_046443 CEP41,CEP41,CEP41,CEP41 EXON Missense_S144N,Missense_S144N,Missense_S128N,Silent exm657955 7 130044507 [G/C] NM_018718,NM_001257158,NM_001257159,NR_046443 CEP41,CEP41,CEP41,CEP41 EXON Missense_A107G,Missense_A107G,Missense_A91G,Silent exm657961 7 130056775 [T/C] NM_018718,NM_001257158,NM_001257159,NR_046443 CEP41,CEP41,CEP41,CEP41 EXON Missense_E44K,Missense_E44K,Silent,Silent exm657966 7 130080788 [A/G] NM_018718,NM_001257158,NM_001257159,NR_046443,NM_001257160 CEP41,CEP41,CEP41,CEP41,CEP41 EXON Missense_I7T,Missense_I7T,Missense_I7T,Silent,Missense_I7T exm2262240 7 130114227 [T/C] exm657974 7 130135210 [A/G] NM_001253901,NM_177524,NM_001253902,NM_177525,NM_002402,NM_001253900 MEST,MEST,MEST,MEST,MEST,MEST EXON Missense_M1V,Missense_M1V,Missense_M1V,Missense_M1V,Missense_M10V,Missense_M10V exm657991 7 130138106 [A/C] NM_001253901,NM_177524,NM_001253902,NM_177525,NM_002402,NM_001253900 MEST,MEST,MEST,MEST,MEST,MEST EXON Missense_L147I,Missense_L147I,Missense_L147I,Missense_L147I,Missense_L156I,Missense_L142I exm658004 7 130143812 [T/C] NM_001253901,NM_177524,NM_001253902,NM_177525,NM_002402,NM_001253900 MEST,MEST,MEST,MEST,MEST,MEST EXON Missense_Y246H,Missense_Y280H,Missense_Y246H,Missense_Y280H,Missense_Y289H,Missense_Y275H exm658016 7 130146607 [T/C] NM_012133 COPG2 EXON Missense_A373T exm658020 7 130147128 [T/C] NM_012133 COPG2 EXON Missense_A355T exm658032 7 130148443 [T/G] NM_012133 COPG2 EXON Missense_H266Q exm658034 7 130148479 [T/G] NM_012133 COPG2 EXON Missense_H254Q exm658092 7 130295911 [T/A] NM_012133 COPG2 EXON Missense_K217M exm658097 7 130297093 [T/C] NM_012133 COPG2 EXON Missense_S170N exm2245005 7 130351756 [T/C] NM_012133 COPG2 EXON Missense_N35S exm658112 7 130352362 [T/C] NM_012133 COPG2 EXON Missense_N17S exm658130 7 130356520 [G/C] NM_052933 TSGA13 EXON Missense_E213D exm658132 7 130356569 [T/C] NM_052933 TSGA13 EXON Missense_R197K exm658133 7 130356576 [T/C] NM_052933 TSGA13 EXON Missense_A195T exm658147 7 130364197 [C/G] NM_052933 TSGA13 EXON Nonsense_Y61X exm658149 7 130364205 [T/C] NM_052933 TSGA13 EXON Missense_A59T exm658152 7 130365812 [A/C] NM_052933 TSGA13 EXON Missense_L49R exm658156 7 130368464 [A/G] NM_052933 TSGA13 EXON Missense_R24C exm658157 7 130368500 [T/C] NM_052933 TSGA13 EXON Missense_G12S exm658164 7 130417921 [A/C] NM_138693 KLF14 EXON Missense_G314C exm658175 7 130418157 [T/C] NM_138693 KLF14 EXON Missense_K235R exm658184 7 130418273 [T/G] NM_138693 KLF14 EXON Missense_Q196H exm658191 7 130418506 [A/G] NM_138693 KLF14 EXON Missense_P119S exm-rs4731702 7 130433384 [T/C] exm-rs972283 7 130466854 [A/G] exm2270692 7 130629901 [T/C] NR_015431,NR_024153 FLJ43663,FLJ43663 EXON Silent,Silent exm2262241 7 130717723 [T/C] NR_015431,NR_024153 FLJ43663,FLJ43663 Silent,Silent exm658206 7 130827699 [T/C] NM_001145354 MKLN1 EXON Missense_R10W exm2270693 7 130894081 [T/C] NM_001145354 MKLN1 Silent exm-rs10265216 7 130900121 [A/T] NM_001145354 MKLN1 Silent exm-rs13235516 7 130923681 [T/C] NM_001145354 MKLN1 Silent exm658226 7 131082101 [A/G] NM_001145354,NM_013255 MKLN1,MKLN1 EXON Missense_D136G,Missense_D159G exm658236 7 131099419 [A/T] NM_001145354,NM_013255 MKLN1,MKLN1 EXON Missense_N243I,Missense_N266I exm658245 7 131128350 [T/G] NM_001145354,NM_013255 MKLN1,MKLN1 EXON Missense_L405F,Missense_L428F exm658255 7 131151128 [A/G] NM_001145354,NM_013255 MKLN1,MKLN1 EXON Missense_K605E,Missense_K628E exm658263 7 131155698 [A/C] NM_001145354,NM_013255 MKLN1,MKLN1 EXON Missense_K653Q,Missense_K676Q exm658280 7 131189107 [T/C] NM_005397,NM_001018111 PODXL,PODXL EXON Missense_K515R,Missense_K547R exm658281 7 131189129 [T/C] NM_005397,NM_001018111 PODXL,PODXL EXON Missense_V508I,Missense_V540I exm2258126 7 131189142 [A/C] NM_005397,NM_001018111 PODXL,PODXL EXON Synonymous_G503G,Synonymous_G535G exm658288 7 131189199 [T/C] NM_005397,NM_001018111 PODXL,PODXL EXON Missense_M484I,Missense_M516I exm658299 7 131190754 [A/G] NM_005397,NM_001018111 PODXL,PODXL EXON Missense_P419L,Missense_P451L exm658305 7 131191031 [A/C] NM_005397,NM_001018111 PODXL,PODXL EXON Missense_D401E,Missense_D433E exm658306 7 131191050 [T/C] NM_005397,NM_001018111 PODXL,PODXL EXON Missense_R395Q,Missense_R427Q exm658307 7 131191054 [T/C] NM_005397,NM_001018111 PODXL,PODXL EXON Missense_E394K,Missense_E426K exm658311 7 131191394 [T/C] NM_005397,NM_001018111 PODXL,PODXL EXON Missense_R366Q,Missense_R398Q exm658313 7 131191401 [T/C] NM_005397,NM_001018111 PODXL,PODXL EXON Missense_G364S,Missense_G396S exm658314 7 131191418 [A/G] NM_005397,NM_001018111 PODXL,PODXL EXON Missense_P358L,Missense_P390L exm658318 7 131191476 [T/C] NM_005397,NM_001018111 PODXL,PODXL EXON Missense_A339T,Missense_A371T exm658327 7 131193739 [T/C] NM_005397,NM_001018111 PODXL,PODXL EXON Missense_V326I,Missense_V358I exm658341 7 131194255 [G/C] NM_005397,NM_001018111 PODXL,PODXL EXON Missense_P266A,Missense_P298A exm658342 7 131194291 [T/C] NM_005397,NM_001018111 PODXL,PODXL EXON Missense_S254G,Missense_S286G exm658343 7 131194329 [A/G] NM_005397,NM_001018111 PODXL,PODXL EXON Missense_S241L,Missense_S273L exm2139381 7 131195587 [A/G] NM_005397,NM_001018111 PODXL,PODXL EXON Missense_P236S,Synonymous_L236L exm2139382 7 131195709 [A/G] NM_005397,NM_001018111 PODXL,PODXL EXON Missense_T195M,Missense_T195M exm658356 7 131195712 [A/G] NM_005397,NM_001018111 PODXL,PODXL EXON Missense_S194L,Missense_S194L exm658357 7 131195757 [A/G] NM_005397,NM_001018111 PODXL,PODXL EXON Missense_T179M,Missense_T179M exm658365 7 131195917 [T/G] NM_005397,NM_001018111 PODXL,PODXL EXON Missense_T126P,Missense_T126P exm658368 7 131195959 [T/C] NM_005397,NM_001018111 PODXL,PODXL EXON Missense_G112S,Missense_G112S exm658370 7 131195974 [T/C] NM_005397,NM_001018111 PODXL,PODXL EXON Missense_V107M,Missense_V107M exm658374 7 131196015 [G/C] NM_005397,NM_001018111 PODXL,PODXL EXON Missense_T93R,Missense_T93R exm658382 7 131196129 [A/C] NM_005397,NM_001018111 PODXL,PODXL EXON Missense_I55S,Missense_I55S exm658390 7 131241043 [A/G] NM_005397,NM_001018111 PODXL,PODXL EXON Missense_P26S,Missense_P26S exm658392 7 131241049 [A/G] NM_005397,NM_001018111 PODXL,PODXL EXON Missense_P24S,Missense_P24S exm-rs12534221 7 131287990 [A/C] exm-rs4078096 7 131358281 [T/C] exm-rs11761231 7 131370039 [T/C] exm-rs1106683 7 131453525 [A/G] exm-rs1106684 7 131453665 [G/C] exm2266478 7 131491505 [A/G] exm2270694 7 131644443 [T/C] exm658403 7 131815312 [T/C] NM_020911 PLXNA4 EXON Missense_D1871N exm658404 7 131815315 [A/G] NM_020911 PLXNA4 EXON Missense_H1870Y exm658410 7 131817833 [A/G] NM_020911 PLXNA4 EXON Missense_S1855F exm658429 7 131829989 [T/C] NM_020911 PLXNA4 EXON Missense_R1705H exm658441 7 131831447 [T/C] NM_020911 PLXNA4 EXON Missense_R1626Q exm658445 7 131832686 [T/C] NM_020911 PLXNA4 EXON Missense_V1613I exm658446 7 131832704 [T/C] NM_020911 PLXNA4 EXON Missense_A1607T exm658471 7 131853148 [T/C] NM_020911 PLXNA4 EXON Missense_A1401T exm658476 7 131853283 [T/C] NM_020911 PLXNA4 EXON Missense_A1356T exm658477 7 131853309 [T/C] NM_020911 PLXNA4 EXON Missense_R1347H exm658479 7 131853318 [T/C] NM_020911 PLXNA4 EXON Missense_R1344Q exm658486 7 131859678 [T/G] NM_020911 PLXNA4 EXON Synonymous_A1292A exm658511 7 131865473 [A/G] NM_020911 PLXNA4 EXON Missense_P1171S exm658522 7 131866297 [A/G] NM_020911 PLXNA4 EXON Missense_T1112I exm658524 7 131866328 [T/C] NM_020911 PLXNA4 EXON Missense_A1102T exm658533 7 131866930 [T/C] NM_020911 PLXNA4 EXON Missense_V1060I exm658535 7 131866933 [T/C] NM_020911 PLXNA4 EXON Missense_A1059T exm658539 7 131870089 [T/C] NM_020911 PLXNA4 EXON Missense_V1043M exm658542 7 131870104 [C/G] NM_020911 PLXNA4 EXON Missense_E1038Q exm658556 7 131878923 [G/C] NM_020911 PLXNA4 EXON Missense_M918I exm658562 7 131883311 [T/C] NM_020911 PLXNA4 EXON Missense_A891T exm658570 7 131887415 [T/C] NM_020911 PLXNA4 EXON Missense_R859H exm2258129 7 131887495 [A/G] NM_020911 PLXNA4 EXON Synonymous_C832C exm-rs6952566 7 131894868 [T/G] NM_020911 PLXNA4 Silent exm658582 7 131895706 [A/G] NM_020911 PLXNA4 EXON Missense_T765I exm658598 7 131908372 [A/G] NM_020911 PLXNA4 EXON Missense_R671C exm658599 7 131908387 [T/C] NM_020911 PLXNA4 EXON Missense_V666M exm658603 7 131910987 [A/C] NM_020911 PLXNA4 EXON Missense_S639A exm658616 7 131913187 [T/C] NM_020911 PLXNA4 EXON Missense_R549H exm658620 7 131925916 [T/C] NM_020911 PLXNA4 EXON Missense_V505I exm2139479 7 131982880 [A/G] NM_020911 PLXNA4 EXON Synonymous_H491H exm658635 7 132070014 [A/G] NM_020911,NM_001105543 PLXNA4,PLXNA4 EXON Silent,Missense_T471M exm658637 7 132070047 [T/C] NM_020911,NM_001105543 PLXNA4,PLXNA4 EXON Silent,Missense_G460D exm658639 7 132070054 [T/C] NM_020911,NM_001105543 PLXNA4,PLXNA4 EXON Silent,Missense_M458V exm658645 7 132169649 [T/G] NM_020911,NM_001105543,NM_181775 PLXNA4,PLXNA4,PLXNA4 EXON Silent,Silent,Missense_H499N exm658649 7 132169766 [T/C] NM_020911,NM_001105543,NM_181775 PLXNA4,PLXNA4,PLXNA4 EXON Silent,Silent,Missense_G460S exm658654 7 132174125 [T/C] NM_020911,NM_001105543,NM_181775 PLXNA4,PLXNA4,PLXNA4 EXON Missense_T433A,Missense_T433A,Missense_T433A exm658655 7 132174152 [T/C] NM_020911,NM_001105543,NM_181775 PLXNA4,PLXNA4,PLXNA4 EXON Missense_V424I,Missense_V424I,Missense_V424I exm658658 7 132174173 [T/C] NM_020911,NM_001105543,NM_181775 PLXNA4,PLXNA4,PLXNA4 EXON Missense_D417N,Missense_D417N,Missense_D417N exm658669 7 132192420 [A/G] NM_020911,NM_001105543,NM_181775 PLXNA4,PLXNA4,PLXNA4 EXON Missense_R345W,Missense_R345W,Missense_R345W exm658672 7 132192492 [T/C] NM_020911,NM_001105543,NM_181775 PLXNA4,PLXNA4,PLXNA4 EXON Missense_V321M,Missense_V321M,Missense_V321M exm658678 7 132192530 [T/C] NM_020911,NM_001105543,NM_181775 PLXNA4,PLXNA4,PLXNA4 EXON Missense_R308H,Missense_R308H,Missense_R308H exm658683 7 132192810 [T/C] NM_020911,NM_001105543,NM_181775 PLXNA4,PLXNA4,PLXNA4 EXON Missense_A215T,Missense_A215T,Missense_A215T exm658694 7 132193154 [T/A] NM_020911,NM_001105543,NM_181775 PLXNA4,PLXNA4,PLXNA4 EXON Missense_I100N,Missense_I100N,Missense_I100N exm658698 7 132193205 [A/G] NM_020911,NM_001105543,NM_181775 PLXNA4,PLXNA4,PLXNA4 EXON Missense_T83M,Missense_T83M,Missense_T83M exm658705 7 132193311 [T/C] NM_020911,NM_001105543,NM_181775 PLXNA4,PLXNA4,PLXNA4 EXON Missense_A48T,Missense_A48T,Missense_A48T exm658708 7 132193334 [A/G] NM_020911,NM_001105543,NM_181775 PLXNA4,PLXNA4,PLXNA4 EXON Missense_F40S,Missense_F40S,Missense_F40S exm658709 7 132193335 [A/G] NM_020911,NM_001105543,NM_181775 PLXNA4,PLXNA4,PLXNA4 EXON Missense_F40L,Missense_F40L,Missense_F40L exm658713 7 132193371 [A/G] NM_020911,NM_001105543,NM_181775 PLXNA4,PLXNA4,PLXNA4 EXON Missense_R28W,Missense_R28W,Missense_R28W exm658715 7 132193410 [T/G] NM_020911,NM_001105543,NM_181775 PLXNA4,PLXNA4,PLXNA4 EXON Missense_L15I,Missense_L15I,Missense_L15I exm2266479 7 132263595 [A/G] NM_181775 PLXNA4 Silent exm658740 7 132481247 [T/C] NM_017812 CHCHD3 EXON Missense_A206T exm2258132 7 132481248 [A/G] NM_017812 CHCHD3 EXON Synonymous_S205S exm658746 7 132481336 [T/C] NM_017812 CHCHD3 EXON Missense_R176Q exm2270695 7 132526350 [T/C] NM_017812 CHCHD3 Silent exm658763 7 132660039 [C/G] NM_017812 CHCHD3 EXON Missense_Q87E exm658765 7 132709319 [T/C] NM_017812 CHCHD3 EXON Missense_E80K exm658780 7 132937902 [G/C] NM_001037126,NM_021807 EXOC4,EXOC4 EXON Missense_S15R,Missense_S15R exm658785 7 132959762 [A/G] NM_001037126,NM_021807 EXOC4,EXOC4 EXON Missense_E38K,Missense_E38K exm658805 7 132990692 [A/G] NM_001037126,NM_021807 EXOC4,EXOC4 EXON Missense_R178Q,Missense_R178Q exm658818 7 133041163 [C/G] NM_001037126,NM_021807 EXOC4,EXOC4 EXON Missense_I281M,Missense_I281M exm658819 7 133041173 [T/G] NM_001037126,NM_021807 EXOC4,EXOC4 EXON Missense_G285C,Missense_G285C exm658833 7 133059694 [A/C] NM_001037126,NM_021807 EXOC4,EXOC4 EXON Missense_Q374K,Missense_Q374K exm2270696 7 133136872 [T/C] NM_001037126,NM_021807 EXOC4,EXOC4 Silent,Silent exm658836 7 133160119 [A/G] NM_001037126,NM_021807 EXOC4,EXOC4 EXON Missense_R407H,Missense_R407H exm2266565 7 133171749 [A/G] NM_021807 EXOC4 Silent exm-rs10488172 7 133335176 [T/G] NM_021807 EXOC4 Silent exm658873 7 133580445 [A/G] NM_021807 EXOC4 EXON Missense_V610M exm2258135 7 133620982 [A/G] NM_021807 EXOC4 Silent exm658894 7 133622765 [G/C] NM_021807 EXOC4 EXON Missense_L717V exm658905 7 133689783 [A/G] NM_021807 EXOC4 EXON Missense_A823T exm658907 7 133689804 [A/G] NM_021807 EXOC4 EXON Missense_A830T exm658910 7 133692557 [A/G] NM_021807 EXOC4 EXON Missense_M886V exm658918 7 133749118 [T/C] NM_021807 EXOC4 EXON Missense_T921M exm658938 7 133812220 [A/G] NM_144648 LRGUK EXON Missense_A34T exm658947 7 133812341 [T/C] NM_144648 LRGUK EXON Missense_S74L exm658955 7 133821836 [T/C] NM_144648 LRGUK EXON Missense_R120C exm658956 7 133821837 [A/G] NM_144648 LRGUK EXON Missense_R120H exm658958 7 133824207 [A/G] NM_144648 LRGUK EXON Missense_V142I exm2274274 7 133832995 [T/C] NM_144648 LRGUK EXON Missense_A198V exm658973 7 133842871 [A/G] NM_144648 LRGUK EXON Missense_I252V exm658978 7 133848177 [T/G] NM_144648 LRGUK EXON Missense_G275V exm658979 7 133848243 [T/G] NM_144648 LRGUK EXON Missense_G297V exm658980 7 133848257 [T/G] NM_144648 LRGUK EXON Missense_D302Y exm658981 7 133848293 [A/G] NM_144648 LRGUK Silent exm2139589 7 133859327 [T/C] NM_144648 LRGUK EXON Missense_I320T exm658989 7 133863343 [T/C] NM_144648 LRGUK EXON Missense_P399L exm658996 7 133868568 [T/C] NM_144648 LRGUK EXON Missense_R433C exm-rs11487152 7 133874831 [T/C] NM_144648 LRGUK Silent exm659013 7 133881844 [A/G] NM_144648 LRGUK EXON Missense_H511R exm659014 7 133883979 [C/G] NM_144648 LRGUK EXON Missense_R518T exm659015 7 133884008 [T/C] NM_144648 LRGUK EXON Missense_R528C exm659016 7 133884009 [A/G] NM_144648 LRGUK EXON Missense_R528H exm659018 7 133884023 [G/C] NM_144648 LRGUK EXON Missense_V533L exm659019 7 133884080 [T/C] NM_144648 LRGUK EXON Missense_R552C exm659020 7 133884081 [A/G] NM_144648 LRGUK EXON Missense_R552H exm659023 7 133884104 [T/C] NM_144648 LRGUK EXON Missense_S560P exm659024 7 133884144 [T/C] NM_144648 LRGUK EXON Missense_P573L exm659026 7 133884168 [A/C] NM_144648 LRGUK EXON Missense_N581T exm659027 7 133886236 [T/A] NM_144648 LRGUK EXON Missense_D584V exm659030 7 133886309 [T/G] NM_144648 LRGUK EXON Missense_K608N exm659033 7 133906576 [A/G] NM_144648 LRGUK EXON Missense_Y630C exm659034 7 133906599 [A/T] NM_144648 LRGUK EXON Missense_F638I exm659037 7 133906640 [A/G] NM_144648 LRGUK EXON Nonsense_W651X exm659038 7 133906669 [T/C] NM_144648 LRGUK EXON Missense_A661V exm659041 7 133932342 [T/C] NM_144648 LRGUK EXON Missense_A673V exm659042 7 133932344 [T/C] NM_144648 LRGUK EXON Missense_R674W exm659043 7 133932345 [A/G] NM_144648 LRGUK EXON Missense_R674Q exm659045 7 133932357 [T/C] NM_144648 LRGUK EXON Missense_M678T exm659052 7 133943037 [T/C] NM_144648 LRGUK EXON Missense_C743R exm659055 7 133943089 [T/C] NM_144648 LRGUK EXON Missense_P760L exm659057 7 133943142 [A/G] NM_144648 LRGUK EXON Missense_E778K exm659058 7 133943151 [T/C] NM_144648 LRGUK EXON Missense_R781W exm659062 7 133948637 [C/G] NM_144648 LRGUK EXON Missense_H796Q exm659064 7 133948668 [A/G] NM_144648 LRGUK EXON Missense_S807G exm659085 7 133979799 [G/C] NM_032826 SLC35B4 EXON Missense_T261S exm659095 7 133984276 [A/G] NM_032826 SLC35B4 EXON Synonymous_S224S exm659096 7 133984283 [T/C] NM_032826 SLC35B4 EXON Missense_N222S exm659117 7 133991492 [T/C] NM_032826 SLC35B4 EXON Missense_V76M exm659119 7 133994134 [A/G] NM_032826 SLC35B4 EXON Missense_P59S exm659120 7 133994136 [A/G] NM_032826 SLC35B4 EXON Missense_P58L exm659121 7 133994143 [T/C] NM_032826 SLC35B4 EXON Missense_R56G exm659127 7 134001469 [A/G] NM_032826 SLC35B4 EXON Missense_A12V exm2266566 7 134017912 [A/G] exm659137 7 134130035 [A/G] NM_001628 AKR1B1 EXON Missense_T288I exm659142 7 134132088 [T/C] NM_001628 AKR1B1 EXON Missense_K263E exm659143 7 134132108 [T/C] NM_001628 AKR1B1 EXON Missense_R256K exm659151 7 134132796 [A/G] NM_001628 AKR1B1 EXON Missense_P226L exm2258137 7 134134517 [T/C] NM_001628 AKR1B1 EXON Synonymous_S128S exm659169 7 134135581 [A/T] NM_001628 AKR1B1 EXON Missense_D103V exm659176 7 134135621 [T/C] NM_001628 AKR1B1 EXON Missense_K90E exm659185 7 134136451 [A/G] NM_001628 AKR1B1 EXON Missense_R41C exm2245024 7 134143814 [T/C] NM_001628 AKR1B1 EXON Missense_M1V exm2270697 7 134195690 [T/C] exm659204 7 134215396 [T/C] NM_020299 AKR1B10 EXON Missense_S23F exm659209 7 134215450 [A/G] NM_020299 AKR1B10 EXON Missense_R41Q exm659214 7 134215554 [A/G] NM_020299 AKR1B10 EXON Missense_V76I exm659219 7 134216757 [A/G] NM_020299 AKR1B10 EXON Missense_H111R exm659220 7 134216765 [T/C] NM_020299 AKR1B10 EXON Nonsense_Q114X exm659223 7 134217777 [A/G] NM_020299 AKR1B10 EXON Missense_K125E exm2245027 7 134221493 [A/C] NM_020299 AKR1B10 EXON Missense_P174H exm659247 7 134222413 [A/G] NM_020299 AKR1B10 EXON Synonymous_Q247Q exm659254 7 134222962 [A/G] NM_020299 AKR1B10 EXON Missense_H253R exm659261 7 134223009 [C/G] NM_020299 AKR1B10 EXON Missense_R269G exm659264 7 134223718 [T/C] NM_020299 AKR1B10 EXON Missense_M286T exm659265 7 134223762 [A/G] NM_020299 AKR1B10 EXON Missense_V301M exm659268 7 134225827 [A/G] NM_020299 AKR1B10 EXON Missense_N313D exm659275 7 134252919 [A/G] NM_001080538 AKR1B15 EXON Missense_G54S exm659278 7 134252935 [T/C] NM_001080538 AKR1B15 EXON Missense_A59V exm659285 7 134253052 [A/G] NM_001080538 AKR1B15 EXON Missense_R98Q exm659288 7 134253066 [A/G] NM_001080538 AKR1B15 EXON Missense_I103V exm659290 7 134254179 [G/C] NM_001080538 AKR1B15 EXON Missense_F111L exm659319 7 134261169 [A/C] NM_001080538 AKR1B15 EXON Missense_K271T exm659333 7 134262486 [A/G] NM_001080538 AKR1B15 EXON Missense_M314V exm659339 7 134346441 [A/C] NM_001724,NM_199186 BPGM,BPGM EXON Missense_N61T,Missense_N61T exm659358 7 134346853 [A/C] NM_001724,NM_199186 BPGM,BPGM EXON Missense_H198Q,Missense_H198Q exm659385 7 134617749 [A/G] NM_033138,NM_004342,NM_033157,NM_033140,NM_033139 CALD1,CALD1,CALD1,CALD1,CALD1 EXON Missense_E77K,Missense_E77K,Missense_E77K,Missense_E71K,Missense_E71K exm659391 7 134617884 [A/G] NM_033138,NM_004342,NM_033157,NM_033140,NM_033139 CALD1,CALD1,CALD1,CALD1,CALD1 EXON Missense_D122N,Missense_D122N,Missense_D122N,Missense_D116N,Missense_D116N exm659392 7 134617927 [A/G] NM_033138,NM_004342,NM_033157,NM_033140,NM_033139 CALD1,CALD1,CALD1,CALD1,CALD1 EXON Missense_R136K,Missense_R136K,Missense_R136K,Missense_R130K,Missense_R130K exm659396 7 134617996 [A/G] NM_033138,NM_004342,NM_033157,NM_033140,NM_033139 CALD1,CALD1,CALD1,CALD1,CALD1 EXON Missense_R159K,Missense_R159K,Missense_R159K,Missense_R153K,Missense_R153K exm659398 7 134618001 [A/G] NM_033138,NM_004342,NM_033157,NM_033140,NM_033139 CALD1,CALD1,CALD1,CALD1,CALD1 EXON Missense_E161K,Missense_E161K,Missense_E161K,Missense_E155K,Missense_E155K exm659400 7 134618032 [T/C] NM_033138,NM_004342,NM_033157,NM_033140,NM_033139 CALD1,CALD1,CALD1,CALD1,CALD1 EXON Missense_S171F,Missense_S171F,Missense_S171F,Missense_S165F,Missense_S165F exm2139751 7 134618367 [A/G] NM_033138,NM_004342,NM_033157,NM_033140,NM_033139 CALD1,CALD1,CALD1,CALD1,CALD1 EXON Missense_E283K,Silent,Silent,Silent,Silent exm659407 7 134618379 [A/C] NM_033138,NM_004342,NM_033157,NM_033140,NM_033139 CALD1,CALD1,CALD1,CALD1,CALD1 EXON Missense_K287Q,Silent,Silent,Silent,Silent exm659411 7 134618397 [C/G] NM_033138,NM_004342,NM_033157,NM_033140,NM_033139 CALD1,CALD1,CALD1,CALD1,CALD1 EXON Missense_A293P,Silent,Silent,Silent,Silent exm2139752 7 134618471 [A/G] NM_033138,NM_004342,NM_033157,NM_033140,NM_033139 CALD1,CALD1,CALD1,CALD1,CALD1 EXON Missense_M317I,Silent,Silent,Silent,Silent exm659413 7 134618491 [A/C] NM_033138,NM_004342,NM_033157,NM_033140,NM_033139 CALD1,CALD1,CALD1,CALD1,CALD1 EXON Missense_A324E,Silent,Silent,Silent,Silent exm659422 7 134618710 [A/G] NM_033138,NM_004342,NM_033157,NM_033140,NM_033139 CALD1,CALD1,CALD1,CALD1,CALD1 EXON Missense_H397R,Silent,Silent,Silent,Silent exm659424 7 134618713 [T/C] NM_033138,NM_004342,NM_033157,NM_033140,NM_033139 CALD1,CALD1,CALD1,CALD1,CALD1 EXON Missense_A398V,Silent,Silent,Silent,Silent exm659431 7 134625880 [A/G] NM_033138,NM_004342,NM_033157,NM_033140,NM_033139 CALD1,CALD1,CALD1,CALD1,CALD1 EXON Missense_K475R,Missense_K220R,Missense_K246R,Missense_K214R,Missense_K240R exm659434 7 134625957 [A/C] NM_033138,NM_004342,NM_033157,NM_033140,NM_033139 CALD1,CALD1,CALD1,CALD1,CALD1 EXON Missense_H501N,Missense_H246N,Missense_H272N,Missense_H240N,Missense_H266N exm2264250 7 134628088 [A/C] NM_033138,NM_004342,NM_033157,NM_033140,NM_033139 CALD1,CALD1,CALD1,CALD1,CALD1 Silent,Silent,Silent,Silent,Silent exm659435 7 134632291 [A/G] NM_033138,NM_004342,NM_033157,NM_033140,NM_033139 CALD1,CALD1,CALD1,CALD1,CALD1 EXON Missense_K522R,Missense_K267R,Missense_K293R,Missense_K261R,Missense_K287R exm659437 7 134632314 [A/G] NM_033138,NM_004342,NM_033157,NM_033140,NM_033139 CALD1,CALD1,CALD1,CALD1,CALD1 EXON Missense_V530M,Missense_V275M,Missense_V301M,Missense_V269M,Missense_V295M exm659438 7 134632324 [A/G] NM_033138,NM_004342,NM_033157,NM_033140,NM_033139 CALD1,CALD1,CALD1,CALD1,CALD1 EXON Missense_G533D,Missense_G278D,Missense_G304D,Missense_G272D,Missense_G298D exm659443 7 134632411 [T/C] NM_033138,NM_004342,NM_033157,NM_033140,NM_033139 CALD1,CALD1,CALD1,CALD1,CALD1 EXON Missense_A562V,Missense_A307V,Missense_A333V,Missense_A301V,Missense_A327V exm659465 7 134645375 [T/C] NM_033138,NM_004342,NM_033157,NM_033140,NM_033139 CALD1,CALD1,CALD1,CALD1,CALD1 EXON Missense_P764L,Missense_P509L,Missense_P534L,Missense_P503L,Missense_P529L exm659469 7 134650074 [T/C] NM_033138,NM_004342,NM_033157,NM_033140,NM_033139 CALD1,CALD1,CALD1,CALD1,CALD1 EXON Synonymous_D771D,Synonymous_D516D,Synonymous_D541D,Synonymous_D510D,Synonymous_D536D exm2258140 7 134650074 [T/C] NM_033138,NM_004342,NM_033157,NM_033140,NM_033139 CALD1,CALD1,CALD1,CALD1,CALD1 EXON Synonymous_D771D,Synonymous_D516D,Synonymous_D541D,Synonymous_D510D,Synonymous_D536D exm659470 7 134650075 [A/G] NM_033138,NM_004342,NM_033157,NM_033140,NM_033139 CALD1,CALD1,CALD1,CALD1,CALD1 EXON Missense_V772I,Missense_V517I,Missense_V542I,Missense_V511I,Missense_V537I exm659483 7 134678273 [T/C] NM_178563 AGBL3 EXON Missense_R52W exm659484 7 134678307 [A/G] NM_178563 AGBL3 EXON Missense_G63E exm659485 7 134678327 [T/C] NM_178563 AGBL3 EXON Missense_R70C exm659487 7 134701856 [G/C] NM_178563 AGBL3 EXON Missense_E122Q exm659493 7 134719061 [A/G] NM_178563 AGBL3 EXON Missense_R240H exm659494 7 134719165 [T/C] NM_178563 AGBL3 EXON Missense_R275C exm659498 7 134719373 [A/C] NM_178563 AGBL3 EXON Missense_T344N exm659499 7 134719421 [T/C] NM_178563 AGBL3 EXON Missense_T360I exm659505 7 134719600 [T/C] NM_178563 AGBL3 EXON Missense_R420W exm659514 7 134730252 [T/C] NM_178563 AGBL3 EXON Missense_T552M exm659517 7 134730317 [T/C] NM_178563 AGBL3 EXON Missense_R574W exm659533 7 134819601 [T/C] NM_178563 AGBL3 EXON Missense_P784L exm659539 7 134819951 [A/G] NM_178563 AGBL3 EXON Missense_E901K exm659544 7 134849213 [A/G] NM_018295 TMEM140 EXON Missense_R7Q exm659550 7 134849280 [A/T] NM_018295 TMEM140 EXON Missense_F29L exm2139770 7 134849284 [A/G] NM_018295 TMEM140 EXON Missense_A31T exm659551 7 134849303 [T/G] NM_018295 TMEM140 EXON Missense_G37V exm659558 7 134849422 [T/C] NM_018295 TMEM140 EXON Missense_R77W exm659569 7 134849488 [A/C] NM_018295 TMEM140 EXON Missense_Q99K exm2139774 7 134849530 [T/C] NM_018295 TMEM140 EXON Missense_W113R exm659578 7 134849633 [T/C] NM_018295 TMEM140 EXON Missense_P147L exm659583 7 134849690 [T/C] NM_018295 TMEM140 EXON Missense_I166T exm659597 7 134851604 [A/G] NM_024033,NM_001243754,NM_001243755,NM_001243753,NM_001243749,NM_001243752,NM_001243751 C7orf49,C7orf49,C7orf49,C7orf49,C7orf49,C7orf49,C7orf49 EXON Missense_A78V,Missense_A23V,Missense_A23V,Silent,Silent,Silent,Silent exm659602 7 134852551 [A/G] NM_024033,NM_001243754,NM_001243755,NM_001243753,NM_001243749,NM_001243752,NM_001243751 C7orf49,C7orf49,C7orf49,C7orf49,C7orf49,C7orf49,C7orf49 EXON Missense_A49V,Silent,Silent,Synonymous_C61C,Synonymous_C61C,Synonymous_C61C,Synonymous_C61C exm2139788 7 134853622 [A/G] NM_024033,NM_001243754,NM_001243755,NM_001243753,NM_001243749,NM_001243752,NM_001243751 C7orf49,C7orf49,C7orf49,C7orf49,C7orf49,C7orf49,C7orf49 EXON Missense_T18I,Silent,Silent,Missense_T18I,Missense_T18I,Missense_T18I,Missense_T18I exm659616 7 134870998 [T/C] NM_014149 WDR91 EXON Missense_V717M exm659640 7 134874189 [A/C] NM_014149 WDR91 EXON Missense_D559Y exm659655 7 134879766 [G/C] NM_014149 WDR91 EXON Missense_P439A exm659657 7 134879814 [T/C] NM_014149 WDR91 EXON Missense_V423I exm659669 7 134880968 [T/C] NM_014149 WDR91 EXON Missense_R391H exm659684 7 134882884 [A/G] NM_014149 WDR91 EXON Missense_P304L exm659689 7 134889072 [T/C] NM_014149 WDR91 EXON Missense_Q280R exm659692 7 134889141 [A/G] NM_014149 WDR91 EXON Missense_P257L exm659695 7 134890686 [A/G] NM_014149 WDR91 EXON Missense_S240L exm659715 7 134893561 [T/C] NM_014149 WDR91 EXON Missense_V165I exm659729 7 134896167 [A/C] NM_014149 WDR91 EXON Missense_A30S exm659739 7 134925322 [A/C] NM_182489 STRA8 EXON Missense_P38T exm2139840 7 134927578 [A/C] NM_182489 STRA8 EXON Missense_Q102K exm659766 7 134939941 [A/T] NM_182489 STRA8 EXON Missense_F294L exm659768 7 134943185 [A/G] NM_182489 STRA8 EXON Missense_V312I exm2266567 7 134970088 [A/G] exm659779 7 135047811 [G/C] NM_013316,NM_001190847,NM_001190849,NM_001190850 CNOT4,CNOT4,CNOT4,CNOT4 EXON Missense_H582Q,Missense_H585Q,Missense_H653Q,Missense_H656Q exm659790 7 135048804 [T/C] NM_013316,NM_001190847,NM_001190849,NM_001190850 CNOT4,CNOT4,CNOT4,CNOT4 EXON Silent,Silent,Missense_V545I,Missense_V548I exm659807 7 135079024 [T/C] NM_013316,NM_001190847,NM_001190849,NM_001190850,NM_001008225,NM_001190848 CNOT4,CNOT4,CNOT4,CNOT4,CNOT4,CNOT4 EXON Missense_V422I,Missense_V425I,Missense_V422I,Missense_V425I,Missense_V422I,Missense_V425I exm659816 7 135082934 [T/C] NM_013316,NM_001190847,NM_001190849,NM_001190850,NM_001008225,NM_001190848 CNOT4,CNOT4,CNOT4,CNOT4,CNOT4,CNOT4 EXON Missense_D286G,Missense_D289G,Missense_D286G,Missense_D289G,Missense_D286G,Missense_D289G exm659817 7 135082953 [G/C] NM_013316,NM_001190847,NM_001190849,NM_001190850,NM_001008225,NM_001190848 CNOT4,CNOT4,CNOT4,CNOT4,CNOT4,CNOT4 EXON Missense_L280V,Missense_L283V,Missense_L280V,Missense_L283V,Missense_L280V,Missense_L283V exm659820 7 135095319 [A/G] NM_013316,NM_001190847,NM_001190849,NM_001190850,NM_001008225,NM_001190848 CNOT4,CNOT4,CNOT4,CNOT4,CNOT4,CNOT4 EXON Missense_T256M,Missense_T256M,Missense_T256M,Missense_T256M,Missense_T256M,Missense_T256M exm659822 7 135095397 [A/G] NM_013316,NM_001190847,NM_001190849,NM_001190850,NM_001008225,NM_001190848 CNOT4,CNOT4,CNOT4,CNOT4,CNOT4,CNOT4 EXON Missense_A230V,Missense_A230V,Missense_A230V,Missense_A230V,Missense_A230V,Missense_A230V exm659833 7 135107102 [G/C] NM_013316,NM_001190847,NM_001190849,NM_001190850,NM_001008225,NM_001190848 CNOT4,CNOT4,CNOT4,CNOT4,CNOT4,CNOT4 EXON Missense_P59A,Missense_P59A,Missense_P59A,Missense_P59A,Missense_P59A,Missense_P59A exm659838 7 135123060 [G/C] NM_013316,NM_001190847,NM_001190849,NM_001190850,NM_001008225,NM_001190848 CNOT4,CNOT4,CNOT4,CNOT4,CNOT4,CNOT4 EXON Missense_A7G,Missense_A7G,Missense_A7G,Missense_A7G,Missense_A7G,Missense_A7G exm-rs2551762 7 135162927 [T/C] NM_013316,NM_001190847,NM_001190849,NM_001190850,NM_001008225,NM_001190848 CNOT4,CNOT4,CNOT4,CNOT4,CNOT4,CNOT4 Silent,Silent,Silent,Silent,Silent,Silent exm659843 7 135242703 [T/C] NM_015135 NUP205 EXON Missense_P4L exm659847 7 135255936 [T/C] NM_015135 NUP205 EXON Missense_L38F exm659858 7 135258511 [G/C] NM_015135 NUP205 EXON Missense_A94G exm659862 7 135261718 [T/C] NM_015135 NUP205 EXON Missense_P164S exm659870 7 135261874 [C/G] NM_015135 NUP205 EXON Missense_E216Q exm659885 7 135269610 [T/C] NM_015135 NUP205 EXON Missense_A358V exm659887 7 135269655 [T/C] NM_015135 NUP205 EXON Missense_M373T exm659888 7 135269656 [A/G] NM_015135 NUP205 EXON Missense_M373I exm659923 7 135282128 [A/G] NM_015135 NUP205 EXON Missense_V676M exm659933 7 135282864 [A/G] NM_015135 NUP205 EXON Missense_R728Q exm659934 7 135282881 [A/C] NM_015135 NUP205 EXON Missense_P734T exm659964 7 135291526 [T/C] NM_015135 NUP205 EXON Missense_A978V exm659966 7 135291554 [G/C] NM_015135 NUP205 EXON Missense_I987M exm659971 7 135291632 [A/T] NM_015135 NUP205 EXON Missense_K1013N exm659972 7 135291649 [A/G] NM_015135 NUP205 EXON Missense_N1019S exm-rs4294134 7 135293128 [A/G] NM_015135 NUP205 Silent exm659984 7 135300751 [A/G] NM_015135 NUP205 EXON Missense_R1133Q exm659985 7 135300783 [C/G] NM_015135 NUP205 EXON Missense_L1144V exm659991 7 135301979 [T/C] NM_015135 NUP205 EXON Missense_T1225I exm2245038 7 135303242 [T/C] NM_015135 NUP205 EXON Missense_S1285L exm659997 7 135303329 [T/C] NM_015135 NUP205 EXON Missense_I1314T exm660002 7 135304273 [G/C] NM_015135 NUP205 EXON Missense_E1356Q exm660003 7 135304309 [A/G] NM_015135 NUP205 EXON Missense_A1368T exm660031 7 135311074 [A/C] NM_015135 NUP205 EXON Missense_Q1586H exm2139957 7 135312794 [T/G] NM_015135 NUP205 EXON Missense_A1623S exm660045 7 135312810 [A/G] NM_015135 NUP205 EXON Missense_Q1628R exm660052 7 135315141 [A/G] NM_015135 NUP205 EXON Missense_R1661H exm660062 7 135323315 [A/G] NM_015135 NUP205 EXON Missense_N1759S exm660063 7 135323351 [T/G] NM_015135 NUP205 EXON Missense_S1771I exm660071 7 135327969 [T/C] NM_015135 NUP205 EXON Missense_R1808C exm2266481 7 135354582 [A/G] NM_001130929 C7orf73 Silent exm660132 7 135366424 [T/C] NM_012450 SLC13A4 EXON Missense_V590I exm660135 7 135368874 [T/A] NM_012450 SLC13A4 EXON Missense_M581L exm660137 7 135368910 [T/C] NM_012450 SLC13A4 EXON Missense_I569V exm660156 7 135376041 [A/G] NM_012450 SLC13A4 EXON Missense_P451S exm660176 7 135384112 [T/C] NM_012450 SLC13A4 EXON Missense_N299S exm660205 7 135392944 [T/C] NM_012450 SLC13A4 EXON Missense_V95M exm660230 7 135418751 [T/C] NM_205855 FAM180A EXON Missense_R165H exm660235 7 135418796 [T/G] NM_205855 FAM180A EXON Missense_Q150P exm660242 7 135418921 [T/G] NM_205855 FAM180A EXON Missense_S108R exm660245 7 135418959 [T/C] NM_205855 FAM180A EXON Missense_V96I exm2270698 7 135680562 [T/C] exm2266568 7 136093047 [A/G] exm-rs7796504 7 136426247 [T/C] exm660279 7 136700286 [T/A] NM_001006630,NM_001006627,NM_001006631,NM_000739,NM_001006632,NM_001006626,NM_001006629,NM_001006628,NR_046103 CHRM2,CHRM2,CHRM2,CHRM2,CHRM2,CHRM2,CHRM2,CHRM2,LOC349160 EXON Missense_V225D,Missense_V225D,Missense_V225D,Missense_V225D,Missense_V225D,Missense_V225D,Missense_V225D,Missense_V225D,Silent exm660280 7 136700303 [A/G] NM_001006630,NM_001006627,NM_001006631,NM_000739,NM_001006632,NM_001006626,NM_001006629,NM_001006628,NR_046103 CHRM2,CHRM2,CHRM2,CHRM2,CHRM2,CHRM2,CHRM2,CHRM2,LOC349160 EXON Missense_V231I,Missense_V231I,Missense_V231I,Missense_V231I,Missense_V231I,Missense_V231I,Missense_V231I,Missense_V231I,Silent exm2140048 7 136700315 [A/C] NM_001006630,NM_001006627,NM_001006631,NM_000739,NM_001006632,NM_001006626,NM_001006629,NM_001006628,NR_046103 CHRM2,CHRM2,CHRM2,CHRM2,CHRM2,CHRM2,CHRM2,CHRM2,LOC349160 EXON Missense_L235M,Missense_L235M,Missense_L235M,Missense_L235M,Missense_L235M,Missense_L235M,Missense_L235M,Missense_L235M,Silent exm660282 7 136700369 [A/G] NM_001006630,NM_001006627,NM_001006631,NM_000739,NM_001006632,NM_001006626,NM_001006629,NM_001006628,NR_046103 CHRM2,CHRM2,CHRM2,CHRM2,CHRM2,CHRM2,CHRM2,CHRM2,LOC349160 EXON Missense_D253N,Missense_D253N,Missense_D253N,Missense_D253N,Missense_D253N,Missense_D253N,Missense_D253N,Missense_D253N,Silent exm660283 7 136700385 [A/G] NM_001006630,NM_001006627,NM_001006631,NM_000739,NM_001006632,NM_001006626,NM_001006629,NM_001006628,NR_046103 CHRM2,CHRM2,CHRM2,CHRM2,CHRM2,CHRM2,CHRM2,CHRM2,LOC349160 EXON Missense_N258S,Missense_N258S,Missense_N258S,Missense_N258S,Missense_N258S,Missense_N258S,Missense_N258S,Missense_N258S,Silent exm660284 7 136700472 [C/G] NM_001006630,NM_001006627,NM_001006631,NM_000739,NM_001006632,NM_001006626,NM_001006629,NM_001006628,NR_046103 CHRM2,CHRM2,CHRM2,CHRM2,CHRM2,CHRM2,CHRM2,CHRM2,LOC349160 EXON Missense_T287S,Missense_T287S,Missense_T287S,Missense_T287S,Missense_T287S,Missense_T287S,Missense_T287S,Missense_T287S,Silent exm660290 7 136700603 [A/T] NM_001006630,NM_001006627,NM_001006631,NM_000739,NM_001006632,NM_001006626,NM_001006629,NM_001006628,NR_046103 CHRM2,CHRM2,CHRM2,CHRM2,CHRM2,CHRM2,CHRM2,CHRM2,LOC349160 EXON Missense_T331S,Missense_T331S,Missense_T331S,Missense_T331S,Missense_T331S,Missense_T331S,Missense_T331S,Missense_T331S,Silent exm660292 7 136700643 [T/G] NM_001006630,NM_001006627,NM_001006631,NM_000739,NM_001006632,NM_001006626,NM_001006629,NM_001006628,NR_046103 CHRM2,CHRM2,CHRM2,CHRM2,CHRM2,CHRM2,CHRM2,CHRM2,LOC349160 EXON Missense_V344G,Missense_V344G,Missense_V344G,Missense_V344G,Missense_V344G,Missense_V344G,Missense_V344G,Missense_V344G,Silent exm660297 7 136700726 [G/C] NM_001006630,NM_001006627,NM_001006631,NM_000739,NM_001006632,NM_001006626,NM_001006629,NM_001006628,NR_046103 CHRM2,CHRM2,CHRM2,CHRM2,CHRM2,CHRM2,CHRM2,CHRM2,LOC349160 EXON Missense_P372A,Missense_P372A,Missense_P372A,Missense_P372A,Missense_P372A,Missense_P372A,Missense_P372A,Missense_P372A,Silent exm660312 7 136935977 [A/C] NM_002825 PTN EXON Missense_A151S exm2270700 7 136979849 [T/C] NM_002825 PTN Silent exm660331 7 137076015 [T/C] NM_004717 DGKI EXON Missense_R1050H exm2270701 7 137089307 [T/C] NM_004717 DGKI Silent exm660362 7 137148323 [A/G] NM_004717 DGKI EXON Missense_R891C exm660363 7 137148328 [T/C] NM_004717 DGKI EXON Missense_R889Q exm660383 7 137172379 [T/C] NM_004717 DGKI EXON Missense_M787V exm660385 7 137172408 [T/C] NM_004717 DGKI EXON Missense_R777H exm-rs6467710 7 137203819 [C/G] NM_004717 DGKI Silent exm660389 7 137206613 [A/G] NM_004717 DGKI EXON Synonymous_A749A exm660420 7 137293774 [T/C] NM_004717 DGKI EXON Missense_I369V exm2266569 7 137327157 [A/G] NM_004717 DGKI Silent exm660431 7 137330273 [T/C] NM_004717 DGKI EXON Missense_R250H exm660435 7 137341213 [T/C] NM_004717 DGKI EXON Missense_K227R exm660437 7 137341244 [T/C] NM_004717 DGKI EXON Missense_V217I exm660443 7 137374693 [A/G] NM_004717 DGKI EXON Missense_L153F exm660471 7 137567157 [T/C] NM_194071 CREB3L2 Silent exm660487 7 137567348 [T/C] NM_194071 CREB3L2 EXON Missense_E433K exm2245044 7 137588724 [T/C] NM_194071 CREB3L2 EXON Missense_M319V exm660507 7 137590594 [T/C] NM_194071 CREB3L2 EXON Missense_K257E exm660521 7 137600583 [T/C] NM_194071,NM_001253775 CREB3L2,CREB3L2 EXON Synonymous_G165G,Synonymous_G165G exm660523 7 137600626 [T/G] NM_194071,NM_001253775 CREB3L2,CREB3L2 EXON Missense_T151N,Missense_T151N exm660526 7 137600663 [T/C] NM_194071,NM_001253775 CREB3L2,CREB3L2 EXON Missense_V139I,Missense_V139I exm660528 7 137600690 [T/C] NM_194071,NM_001253775 CREB3L2,CREB3L2 EXON Missense_V130I,Missense_V130I exm660532 7 137600758 [T/C] NM_194071,NM_001253775 CREB3L2,CREB3L2 EXON Missense_D107G,Missense_D107G exm660538 7 137612947 [A/G] NM_194071,NM_001253775 CREB3L2,CREB3L2 EXON Missense_R90W,Missense_R90W exm660545 7 137613006 [A/G] NM_194071,NM_001253775 CREB3L2,CREB3L2 EXON Missense_P70L,Missense_P70L exm660550 7 137686360 [T/A] NM_194071,NM_001253775 CREB3L2,CREB3L2 EXON Missense_M31K,Missense_M31K exm660553 7 137686406 [A/G] NM_194071,NM_001253775 CREB3L2,CREB3L2 EXON Missense_R16C,Missense_R16C exm660556 7 137761313 [A/G] NM_001190907,NM_005989,NM_001190906 AKR1D1,AKR1D1,AKR1D1 EXON Missense_S17G,Missense_S17G,Missense_S17G exm660561 7 137773402 [A/G] NM_001190907,NM_005989,NM_001190906 AKR1D1,AKR1D1,AKR1D1 EXON Missense_R50Q,Missense_R50Q,Missense_R50Q exm660573 7 137773515 [T/G] NM_001190907,NM_005989,NM_001190906 AKR1D1,AKR1D1,AKR1D1 Silent,Silent,Silent exm660578 7 137776538 [A/G] NM_001190907,NM_005989,NM_001190906 AKR1D1,AKR1D1,AKR1D1 EXON Missense_E96K,Missense_E96K,Missense_E96K exm660582 7 137776608 [T/C] NM_001190907,NM_005989,NM_001190906 AKR1D1,AKR1D1,AKR1D1 EXON Missense_I119T,Missense_I119T,Missense_I119T exm2266482 7 137778542 [A/G] NM_001190907,NM_005989,NM_001190906 AKR1D1,AKR1D1,AKR1D1 Silent,Silent,Silent exm660583 7 137782613 [T/C] NM_001190907,NM_005989,NM_001190906 AKR1D1,AKR1D1,AKR1D1 EXON Missense_P127L,Missense_P127L,Missense_P127L exm660590 7 137791367 [T/C] NM_001190907,NM_005989,NM_001190906 AKR1D1,AKR1D1,AKR1D1 EXON Missense_P198L,Missense_P198L,Missense_P157L exm660599 7 137792253 [A/G] NM_001190907,NM_005989,NM_001190906 AKR1D1,AKR1D1,AKR1D1 EXON Missense_R261H,Missense_R261H,Missense_R220H exm660607 7 137801372 [T/C] NM_001190907,NM_005989,NM_001190906 AKR1D1,AKR1D1,AKR1D1 EXON Nonsense_R288X,Synonymous_R315R,Synonymous_R274R exm-rs1602105 7 137902633 [T/C] exm-rs357394 7 138049387 [G/C] exm2264251 7 138140578 [A/C] exm-rs1874326 7 138157390 [A/G] NM_003852,NM_015905 TRIM24,TRIM24 Silent,Silent exm660629 7 138200030 [T/C] NM_003852,NM_015905 TRIM24,TRIM24 EXON Missense_T186M,Missense_T186M exm660647 7 138239499 [A/G] NM_003852,NM_015905 TRIM24,TRIM24 EXON Missense_V440I,Missense_V440I exm660653 7 138239655 [G/C] NM_003852,NM_015905 TRIM24,TRIM24 EXON Silent,Missense_G492R exm660663 7 138252385 [A/C] NM_003852,NM_015905 TRIM24,TRIM24 EXON Missense_Q530K,Missense_Q564K exm660669 7 138258343 [T/C] NM_003852,NM_015905 TRIM24,TRIM24 EXON Missense_T623M,Missense_T657M exm660673 7 138263965 [A/G] NM_003852,NM_015905 TRIM24,TRIM24 EXON Missense_S724N,Missense_S758N exm660680 7 138265337 [G/C] NM_003852,NM_015905 TRIM24,TRIM24 EXON Missense_D838E,Missense_D872E exm660695 7 138269570 [T/G] NM_003852,NM_015905 TRIM24,TRIM24 EXON Missense_R975S,Missense_R1009S exm660696 7 138269611 [A/G] NM_003852,NM_015905 TRIM24,TRIM24 EXON Missense_K989R,Missense_K1023R exm660717 7 138281268 [A/G] NM_174959,NM_001139456 SVOPL,SVOPL EXON Missense_M302T,Missense_M454T exm660724 7 138305822 [A/T] NM_174959,NM_001139456 SVOPL,SVOPL EXON Missense_I289N,Missense_I441N exm660725 7 138305825 [T/C] NM_174959,NM_001139456 SVOPL,SVOPL EXON Missense_R288H,Missense_R440H exm660726 7 138305838 [T/C] NM_174959,NM_001139456 SVOPL,SVOPL EXON Missense_G284S,Missense_G436S exm660728 7 138305852 [A/C] NM_174959,NM_001139456 SVOPL,SVOPL EXON Missense_G279V,Missense_G431V exm660736 7 138312122 [A/C] NM_174959,NM_001139456 SVOPL,SVOPL EXON Missense_F233C,Missense_F385C exm660742 7 138312929 [A/G] NM_174959,NM_001139456 SVOPL,SVOPL EXON Missense_I196T,Missense_I348T exm660743 7 138312938 [T/C] NM_174959,NM_001139456 SVOPL,SVOPL EXON Missense_R193Q,Missense_R345Q exm660747 7 138312987 [T/C] NM_174959,NM_001139456 SVOPL,SVOPL EXON Missense_E177K,Missense_E329K exm660748 7 138313016 [A/G] NM_174959,NM_001139456 SVOPL,SVOPL EXON Missense_A167V,Missense_A319V exm660751 7 138313061 [T/C] NM_174959,NM_001139456 SVOPL,SVOPL EXON Missense_E152G,Missense_E304G exm660753 7 138313071 [T/C] NM_174959,NM_001139456 SVOPL,SVOPL EXON Missense_A149T,Missense_A301T exm660760 7 138314822 [A/G] NM_174959,NM_001139456 SVOPL,SVOPL EXON Missense_R127W,Missense_R279W exm660761 7 138314854 [C/G] NM_174959,NM_001139456 SVOPL,SVOPL EXON Missense_R116T,Missense_R268T exm660765 7 138329490 [A/G] NM_174959,NM_001139456 SVOPL,SVOPL EXON Missense_P102L,Missense_P254L exm660766 7 138329502 [T/C] NM_174959,NM_001139456 SVOPL,SVOPL EXON Missense_R98H,Missense_R250H exm660767 7 138329503 [A/G] NM_174959,NM_001139456 SVOPL,SVOPL EXON Missense_R98C,Missense_R250C exm660769 7 138329518 [T/C] NM_174959,NM_001139456 SVOPL,SVOPL EXON Missense_V93I,Missense_V245I exm660776 7 138329571 [T/C] NM_174959,NM_001139456 SVOPL,SVOPL EXON Missense_R75Q,Missense_R227Q exm660777 7 138329572 [A/G] NM_174959,NM_001139456 SVOPL,SVOPL EXON Missense_R75W,Missense_R227W exm660783 7 138333801 [A/G] NM_174959,NM_001139456 SVOPL,SVOPL EXON Missense_R54C,Missense_R206C exm660784 7 138333818 [T/C] NM_174959,NM_001139456 SVOPL,SVOPL EXON Missense_G48E,Missense_G200E exm660785 7 138333819 [T/C] NM_174959,NM_001139456 SVOPL,SVOPL EXON Missense_G48R,Missense_G200R exm660795 7 138341219 [A/G] NM_174959,NM_001139456 SVOPL,SVOPL EXON Nonsense_R18X,Nonsense_R170X exm660798 7 138341230 [A/G] NM_174959,NM_001139456 SVOPL,SVOPL EXON Missense_P14L,Missense_P166L exm660802 7 138344619 [A/G] NM_174959,NM_001139456 SVOPL,SVOPL EXON Silent,Missense_H154Y exm2140286 7 138344720 [A/G] NM_174959,NM_001139456 SVOPL,SVOPL EXON Silent,Missense_S120L exm660831 7 138394472 [T/C] NM_130840,NM_130841,NM_020632 ATP6V0A4,ATP6V0A4,ATP6V0A4 EXON Missense_V776I,Missense_V776I,Missense_V776I exm660840 7 138400574 [T/C] NM_130840,NM_130841,NM_020632 ATP6V0A4,ATP6V0A4,ATP6V0A4 EXON Missense_C731Y,Missense_C731Y,Missense_C731Y exm660841 7 138400611 [T/C] NM_130840,NM_130841,NM_020632 ATP6V0A4,ATP6V0A4,ATP6V0A4 EXON Missense_V719I,Missense_V719I,Missense_V719I exm660850 7 138406735 [C/G] NM_130840,NM_130841,NM_020632 ATP6V0A4,ATP6V0A4,ATP6V0A4 EXON Missense_E682D,Missense_E682D,Missense_E682D exm660851 7 138406746 [A/C] NM_130840,NM_130841,NM_020632 ATP6V0A4,ATP6V0A4,ATP6V0A4 EXON Missense_D679Y,Missense_D679Y,Missense_D679Y exm-rs3800569 7 138411425 [T/C] NM_130840,NM_130841,NM_020632 ATP6V0A4,ATP6V0A4,ATP6V0A4 Silent,Silent,Silent exm660852 7 138413517 [A/G] NM_130840,NM_130841,NM_020632 ATP6V0A4,ATP6V0A4,ATP6V0A4 EXON Missense_R667W,Missense_R667W,Missense_R667W exm660865 7 138417724 [A/G] NM_130840,NM_130841,NM_020632 ATP6V0A4,ATP6V0A4,ATP6V0A4 EXON Synonymous_D602D,Synonymous_D602D,Synonymous_D602D exm660868 7 138417791 [A/G] NM_130840,NM_130841,NM_020632 ATP6V0A4,ATP6V0A4,ATP6V0A4 EXON Missense_M580T,Missense_M580T,Missense_M580T exm660872 7 138418903 [A/T] NM_130840,NM_130841,NM_020632 ATP6V0A4,ATP6V0A4,ATP6V0A4 EXON Missense_I557F,Missense_I557F,Missense_I557F exm660880 7 138424329 [T/G] NM_130840,NM_130841,NM_020632 ATP6V0A4,ATP6V0A4,ATP6V0A4 EXON Missense_P510T,Missense_P510T,Missense_P510T exm660881 7 138424359 [T/C] NM_130840,NM_130841,NM_020632 ATP6V0A4,ATP6V0A4,ATP6V0A4 EXON Missense_S500G,Missense_S500G,Missense_S500G exm660886 7 138429893 [A/G] NM_130840,NM_130841,NM_020632 ATP6V0A4,ATP6V0A4,ATP6V0A4 EXON Missense_P485S,Missense_P485S,Missense_P485S exm660892 7 138432174 [T/A] NM_130840,NM_130841,NM_020632 ATP6V0A4,ATP6V0A4,ATP6V0A4 EXON Missense_N439I,Missense_N439I,Missense_N439I exm660900 7 138434059 [T/G] NM_130840,NM_130841,NM_020632 ATP6V0A4,ATP6V0A4,ATP6V0A4 EXON Missense_L345I,Missense_L345I,Missense_L345I exm660907 7 138437453 [T/C] NM_130840,NM_130841,NM_020632 ATP6V0A4,ATP6V0A4,ATP6V0A4 EXON Missense_V316I,Missense_V316I,Missense_V316I exm660912 7 138437518 [A/G] NM_130840,NM_130841,NM_020632 ATP6V0A4,ATP6V0A4,ATP6V0A4 EXON Missense_S294F,Missense_S294F,Missense_S294F exm660920 7 138440495 [C/G] NM_130840,NM_130841,NM_020632 ATP6V0A4,ATP6V0A4,ATP6V0A4 EXON Missense_P252R,Missense_P252R,Missense_P252R exm660923 7 138441254 [A/G] NM_130840,NM_130841,NM_020632 ATP6V0A4,ATP6V0A4,ATP6V0A4 EXON Missense_I224T,Missense_I224T,Missense_I224T exm660932 7 138447178 [A/G] NM_130840,NM_130841,NM_020632 ATP6V0A4,ATP6V0A4,ATP6V0A4 EXON Missense_T140M,Missense_T140M,Missense_T140M exm660938 7 138453553 [A/G] NM_130840,NM_130841,NM_020632 ATP6V0A4,ATP6V0A4,ATP6V0A4 EXON Missense_P88L,Missense_P88L,Missense_P88L exm660946 7 138455896 [T/C] NM_130840,NM_130841,NM_020632 ATP6V0A4,ATP6V0A4,ATP6V0A4 EXON Missense_G33R,Missense_G33R,Missense_G33R exm660949 7 138455976 [T/C] NM_130840,NM_130841,NM_020632 ATP6V0A4,ATP6V0A4,ATP6V0A4 EXON Missense_R6Q,Missense_R6Q,Missense_R6Q exm660951 7 138455988 [A/G] NM_130840,NM_130841,NM_020632 ATP6V0A4,ATP6V0A4,ATP6V0A4 EXON Missense_V2A,Missense_V2A,Missense_V2A exm660953 7 138482857 [A/G] NM_130840,NM_020632,NM_001085429 ATP6V0A4,ATP6V0A4,TMEM213 EXON Silent,Silent,Missense_R3H exm660956 7 138482898 [C/G] NM_130840,NM_020632,NM_001085429 ATP6V0A4,ATP6V0A4,TMEM213 EXON Silent,Silent,Missense_A17P exm660963 7 138487672 [A/G] NM_001085429 TMEM213 EXON Missense_R61Q exm660965 7 138487681 [A/G] NM_001085429 TMEM213 EXON Missense_R64H exm660967 7 138487701 [A/G] NM_001085429 TMEM213 EXON Missense_G71S exm2277337 7 138487777 [A/G] NM_001085429 TMEM213 EXON Missense_K96R exm2245052 7 138522671 [T/C] NM_020910,NM_001164665 KIAA1549,KIAA1549 EXON Missense_V1929M,Missense_V1945M exm660977 7 138522787 [C/G] NM_020910,NM_001164665 KIAA1549,KIAA1549 EXON Missense_P1890R,Missense_P1906R exm660982 7 138522842 [T/C] NM_020910,NM_001164665 KIAA1549,KIAA1549 EXON Missense_G1872S,Missense_G1888S exm660984 7 138524888 [T/C] NM_020910,NM_001164665 KIAA1549,KIAA1549 EXON Missense_R1863Q,Missense_R1863Q exm660988 7 138524963 [A/G] NM_020910,NM_001164665 KIAA1549,KIAA1549 EXON Missense_V1838A,Missense_V1838A exm660996 7 138529202 [C/G] NM_020910,NM_001164665 KIAA1549,KIAA1549 EXON Missense_G1771A,Missense_G1771A exm660998 7 138536984 [A/G] NM_020910,NM_001164665 KIAA1549,KIAA1549 EXON Missense_T1760M,Missense_T1760M exm661000 7 138537002 [T/C] NM_020910,NM_001164665 KIAA1549,KIAA1549 EXON Missense_Y1754C,Missense_Y1754C exm2262251 7 138539626 [A/G] NM_020910,NM_001164665 KIAA1549,KIAA1549 Silent,Silent exm661005 7 138545904 [A/G] NM_020910,NM_001164665 KIAA1549,KIAA1549 EXON Missense_T1743M,Missense_T1743M exm661006 7 138545946 [T/C] NM_020910,NM_001164665 KIAA1549,KIAA1549 EXON Missense_R1729K,Missense_R1729K exm661034 7 138554315 [T/C] NM_020910,NM_001164665 KIAA1549,KIAA1549 EXON Missense_V1582M,Missense_V1582M exm661040 7 138554411 [T/C] NM_020910,NM_001164665 KIAA1549,KIAA1549 EXON Missense_V1550I,Missense_V1550I exm661046 7 138555922 [G/C] NM_020910,NM_001164665 KIAA1549,KIAA1549 EXON Missense_S1511T,Missense_S1511T exm661054 7 138556074 [T/G] NM_020910,NM_001164665 KIAA1549,KIAA1549 EXON Missense_H1460Q,Missense_H1460Q exm2266483 7 138561260 [A/G] NM_020910,NM_001164665 KIAA1549,KIAA1549 Silent,Silent exm661062 7 138564328 [A/G] NM_020910,NM_001164665 KIAA1549,KIAA1549 EXON Missense_P1434L,Missense_P1434L exm2258151 7 138564372 [G/C] NM_020910,NM_001164665 KIAA1549,KIAA1549 EXON Synonymous_T1419T,Synonymous_T1419T exm661073 7 138566179 [T/C] NM_020910,NM_001164665 KIAA1549,KIAA1549 EXON Missense_S1395N,Missense_S1395N exm661091 7 138579245 [A/G] NM_020910,NM_001164665 KIAA1549,KIAA1549 EXON Missense_P1292L,Missense_P1292L exm661103 7 138588410 [T/C] NM_020910,NM_001164665 KIAA1549,KIAA1549 EXON Missense_Q1198R,Missense_Q1198R exm661114 7 138591748 [A/G] NM_020910,NM_001164665 KIAA1549,KIAA1549 EXON Missense_S1126L,Missense_S1126L exm661118 7 138591808 [T/C] NM_020910,NM_001164665 KIAA1549,KIAA1549 EXON Missense_R1106Q,Missense_R1106Q exm661121 7 138593738 [A/T] NM_020910,NM_001164665 KIAA1549,KIAA1549 EXON Missense_Q1092L,Missense_Q1092L exm661124 7 138593825 [T/C] NM_020910,NM_001164665 KIAA1549,KIAA1549 EXON Missense_N1063S,Missense_N1063S exm661127 7 138593867 [A/T] NM_020910,NM_001164665 KIAA1549,KIAA1549 EXON Missense_V1049E,Missense_V1049E exm661129 7 138595985 [A/T] NM_020910,NM_001164665 KIAA1549,KIAA1549 EXON Missense_I1018L,Missense_I1018L exm661137 7 138601515 [T/C] NM_020910,NM_001164665 KIAA1549,KIAA1549 EXON Missense_D953N,Missense_D953N exm661140 7 138601554 [T/C] NM_020910,NM_001164665 KIAA1549,KIAA1549 EXON Missense_T940A,Missense_T940A exm661141 7 138601572 [T/C] NM_020910,NM_001164665 KIAA1549,KIAA1549 EXON Missense_D934N,Missense_D934N exm661143 7 138601602 [T/C] NM_020910,NM_001164665 KIAA1549,KIAA1549 EXON Missense_V924M,Missense_V924M exm661150 7 138601663 [T/G] NM_020910,NM_001164665 KIAA1549,KIAA1549 EXON Missense_D903E,Missense_D903E exm661151 7 138601683 [T/C] NM_020910,NM_001164665 KIAA1549,KIAA1549 EXON Missense_D897N,Missense_D897N exm661153 7 138601706 [A/C] NM_020910,NM_001164665 KIAA1549,KIAA1549 EXON Missense_G889V,Missense_G889V exm661154 7 138601730 [A/G] NM_020910,NM_001164665 KIAA1549,KIAA1549 EXON Missense_T881M,Missense_T881M exm661162 7 138601826 [A/G] NM_020910,NM_001164665 KIAA1549,KIAA1549 EXON Missense_S849L,Missense_S849L exm661175 7 138602058 [A/G] NM_020910,NM_001164665 KIAA1549,KIAA1549 EXON Missense_P772S,Missense_P772S exm2258152 7 138602191 [A/G] NM_020910,NM_001164665 KIAA1549,KIAA1549 EXON Synonymous_L727L,Synonymous_L727L exm661184 7 138602267 [T/A] NM_020910,NM_001164665 KIAA1549,KIAA1549 EXON Missense_L702Q,Missense_L702Q exm661190 7 138602417 [A/G] NM_020910,NM_001164665 KIAA1549,KIAA1549 EXON Missense_P652L,Missense_P652L exm661196 7 138602523 [T/C] NM_020910,NM_001164665 KIAA1549,KIAA1549 EXON Missense_R617G,Missense_R617G exm661198 7 138602570 [A/G] NM_020910,NM_001164665 KIAA1549,KIAA1549 EXON Missense_S601L,Missense_S601L exm661202 7 138602603 [A/G] NM_020910,NM_001164665 KIAA1549,KIAA1549 EXON Missense_T590M,Missense_T590M exm661214 7 138602777 [A/G] NM_020910,NM_001164665 KIAA1549,KIAA1549 EXON Missense_A532V,Missense_A532V exm661220 7 138602916 [G/C] NM_020910,NM_001164665 KIAA1549,KIAA1549 EXON Missense_P486A,Missense_P486A exm661222 7 138602973 [T/C] NM_020910,NM_001164665 KIAA1549,KIAA1549 EXON Missense_V467I,Missense_V467I exm661225 7 138603048 [A/C] NM_020910,NM_001164665 KIAA1549,KIAA1549 EXON Missense_V442L,Missense_V442L exm661232 7 138603171 [T/C] NM_020910,NM_001164665 KIAA1549,KIAA1549 EXON Missense_G401S,Missense_G401S exm661237 7 138603236 [C/G] NM_020910,NM_001164665 KIAA1549,KIAA1549 EXON Missense_S379C,Missense_S379C exm661240 7 138603282 [T/C] NM_020910,NM_001164665 KIAA1549,KIAA1549 EXON Missense_T364A,Missense_T364A exm661250 7 138603414 [T/C] NM_020910,NM_001164665 KIAA1549,KIAA1549 EXON Missense_D320N,Missense_D320N exm661251 7 138603441 [A/G] NM_020910,NM_001164665 KIAA1549,KIAA1549 EXON Missense_P311S,Missense_P311S exm661253 7 138603473 [A/G] NM_020910,NM_001164665 KIAA1549,KIAA1549 EXON Missense_P300L,Missense_P300L exm661257 7 138603497 [A/G] NM_020910,NM_001164665 KIAA1549,KIAA1549 EXON Missense_P292L,Missense_P292L exm661263 7 138603662 [A/C] NM_020910,NM_001164665 KIAA1549,KIAA1549 EXON Missense_R237L,Missense_R237L exm661267 7 138603680 [A/G] NM_020910,NM_001164665 KIAA1549,KIAA1549 EXON Missense_T231I,Missense_T231I exm661269 7 138603696 [A/C] NM_020910,NM_001164665 KIAA1549,KIAA1549 EXON Missense_A226S,Missense_A226S exm661272 7 138603714 [G/C] NM_020910,NM_001164665 KIAA1549,KIAA1549 EXON Missense_A220P,Missense_A220P exm661277 7 138603795 [T/C] NM_020910,NM_001164665 KIAA1549,KIAA1549 EXON Missense_M193V,Missense_M193V exm2140407 7 138603910 [A/G] NM_020910,NM_001164665 KIAA1549,KIAA1549 EXON Synonymous_D154D,Synonymous_D154D exm661288 7 138603968 [T/G] NM_020910,NM_001164665 KIAA1549,KIAA1549 EXON Missense_P135H,Missense_P135H exm661303 7 138711291 [A/T] NM_080660 ZC3HAV1L EXON Missense_X301L exm661304 7 138711298 [T/C] NM_080660 ZC3HAV1L EXON Missense_E299K exm661305 7 138711301 [A/G] NM_080660 ZC3HAV1L EXON Missense_C298R exm661315 7 138711574 [A/G] NM_080660 ZC3HAV1L EXON Missense_S256P exm661317 7 138713476 [T/C] NM_080660 ZC3HAV1L EXON Missense_M244I exm661321 7 138713583 [A/G] NM_080660 ZC3HAV1L EXON Missense_R209W exm661322 7 138713593 [A/C] NM_080660 ZC3HAV1L EXON Missense_Q205H exm661349 7 138732434 [A/G] NM_020119 ZC3HAV1 EXON Missense_S872L exm661355 7 138732497 [A/G] NM_020119 ZC3HAV1 EXON Missense_T851I exm661376 7 138739994 [T/C] NM_020119 ZC3HAV1 EXON Missense_R715H exm661377 7 138739995 [A/G] NM_020119 ZC3HAV1 EXON Missense_R715C exm661380 7 138740037 [G/C] NM_020119 ZC3HAV1 EXON Missense_Q701E exm661383 7 138745858 [T/C] NM_020119,NM_024625 ZC3HAV1,ZC3HAV1 EXON Missense_K674E,Missense_K674E exm661386 7 138749736 [A/G] NM_020119,NM_024625 ZC3HAV1,ZC3HAV1 EXON Missense_R628W,Missense_R628W exm661390 7 138758679 [T/C] NM_020119,NM_024625 ZC3HAV1,ZC3HAV1 EXON Missense_A599T,Missense_A599T exm661394 7 138758724 [A/G] NM_020119,NM_024625 ZC3HAV1,ZC3HAV1 EXON Missense_F584L,Missense_F584L exm2140443 7 138758745 [A/G] NM_020119,NM_024625 ZC3HAV1,ZC3HAV1 EXON Missense_R577W,Missense_R577W exm661398 7 138758754 [T/C] NM_020119,NM_024625 ZC3HAV1,ZC3HAV1 EXON Missense_I574V,Missense_I574V exm661400 7 138761034 [G/C] NM_020119,NM_024625 ZC3HAV1,ZC3HAV1 EXON Missense_H565Q,Missense_H565Q exm661402 7 138761045 [A/G] NM_020119,NM_024625 ZC3HAV1,ZC3HAV1 EXON Missense_P562S,Missense_P562S exm661411 7 138763358 [T/C] NM_020119,NM_024625 ZC3HAV1,ZC3HAV1 EXON Missense_D505N,Missense_D505N exm661416 7 138764233 [T/C] NM_020119,NM_024625 ZC3HAV1,ZC3HAV1 EXON Missense_R485K,Missense_R485K exm661417 7 138764245 [T/G] NM_020119,NM_024625 ZC3HAV1,ZC3HAV1 EXON Missense_D481A,Missense_D481A exm661430 7 138764533 [T/C] NM_020119,NM_024625 ZC3HAV1,ZC3HAV1 EXON Missense_R385H,Missense_R385H exm661431 7 138764534 [A/G] NM_020119,NM_024625 ZC3HAV1,ZC3HAV1 EXON Missense_R385C,Missense_R385C exm661432 7 138764537 [T/C] NM_020119,NM_024625 ZC3HAV1,ZC3HAV1 EXON Missense_A384T,Missense_A384T exm661439 7 138764741 [T/G] NM_020119,NM_024625 ZC3HAV1,ZC3HAV1 EXON Missense_T316P,Missense_T316P exm661445 7 138764803 [T/C] NM_020119,NM_024625 ZC3HAV1,ZC3HAV1 EXON Missense_R295H,Missense_R295H exm661446 7 138764804 [A/G] NM_020119,NM_024625 ZC3HAV1,ZC3HAV1 EXON Missense_R295C,Missense_R295C exm661453 7 138764878 [G/C] NM_020119,NM_024625 ZC3HAV1,ZC3HAV1 EXON Missense_R270T,Missense_R270T exm661459 7 138768676 [A/G] NM_020119,NM_024625 ZC3HAV1,ZC3HAV1 EXON Missense_R183C,Missense_R183C exm661462 7 138768744 [T/C] NM_020119,NM_024625 ZC3HAV1,ZC3HAV1 EXON Missense_Q160R,Missense_Q160R exm661484 7 138822599 [T/C] NM_001144920,NM_024926,NM_001144923 TTC26,TTC26,TTC26 EXON Missense_R50C,Missense_R50C,Silent exm2140464 7 138822617 [A/G] NM_001144920,NM_024926,NM_001144923 TTC26,TTC26,TTC26 EXON Missense_E56K,Missense_E56K,Silent exm2245061 7 138824694 [T/C] NM_001144920,NM_024926,NM_001144923 TTC26,TTC26,TTC26 EXON Missense_A98V,Missense_A98V,Missense_A67V exm661491 7 138824711 [T/C] NM_001144920,NM_024926,NM_001144923 TTC26,TTC26,TTC26 EXON Missense_L104F,Missense_L104F,Missense_L73F exm661505 7 138849974 [T/C] NM_001144920,NM_024926,NM_001144923 TTC26,TTC26,TTC26 EXON Missense_R297C,Missense_R297C,Missense_R266C exm661506 7 138851618 [A/G] NM_001144920,NM_024926,NM_001144923 TTC26,TTC26,TTC26 EXON Missense_D310N,Missense_D310N,Missense_D279N exm661524 7 138865897 [A/G] NM_001144920,NM_024926,NM_001144923 TTC26,TTC26,TTC26 EXON Missense_G458S,Missense_G458S,Missense_G427S exm2264269 7 138872345 [A/C] NM_001144920,NM_024926,NM_001144923 TTC26,TTC26,TTC26 Silent,Silent,Silent exm661530 7 138874088 [T/C] NM_001144920,NM_024926,NM_001144923 TTC26,TTC26,TTC26 EXON Missense_P481S,Synonymous_L525L,Synonymous_L494L exm2273440 7 138874416 [G/C] NM_001144920,NM_024926,NM_001144923 TTC26,TTC26,TTC26 EXON Silent,Silent,Silent exm661544 7 138916654 [T/G] NM_173569 UBN2 EXON Missense_V142L exm661552 7 138943276 [A/G] NM_173569 UBN2 EXON Missense_G236S exm661554 7 138943330 [G/C] NM_173569 UBN2 EXON Missense_E254Q exm661557 7 138944024 [A/G] NM_173569 UBN2 EXON Missense_I271M exm661570 7 138945999 [T/G] NM_173569 UBN2 EXON Missense_V303F exm661585 7 138946363 [T/C] NM_173569 UBN2 EXON Missense_S424L exm661600 7 138957165 [A/G] NM_173569 UBN2 EXON Missense_R565H exm661618 7 138967824 [A/G] NM_173569 UBN2 EXON Missense_S725G exm661626 7 138967944 [T/C] NM_173569 UBN2 EXON Missense_P765S exm661631 7 138968053 [T/C] NM_173569 UBN2 EXON Missense_L801P exm661634 7 138968122 [T/C] NM_173569 UBN2 EXON Missense_T824I exm661645 7 138968397 [A/G] NM_173569 UBN2 EXON Missense_E916K exm661647 7 138968412 [T/G] NM_173569 UBN2 EXON Missense_S921A exm661654 7 138968588 [A/G] NM_173569 UBN2 EXON Missense_M979I exm2140512 7 138968722 [T/C] NM_173569 UBN2 EXON Missense_T1024M exm661665 7 138968836 [A/G] NM_173569 UBN2 EXON Missense_K1062R exm661670 7 138969153 [A/G] NM_173569 UBN2 EXON Missense_M1168V exm661680 7 138978128 [T/C] NM_173569 UBN2 EXON Missense_F1274L exm661683 7 138978679 [A/G] NM_173569 UBN2 EXON Missense_T1316A exm661684 7 138978680 [T/C] NM_173569 UBN2 EXON Missense_T1316M exm2245067 7 138982565 [A/C] NM_173569 UBN2 EXON Missense_P1343T exm661695 7 139026152 [T/G] NM_001244585,NR_073060,NR_073058,NR_073059,NM_197964,NM_001244584 LUC7L2,C7orf55,C7orf55,C7orf55,C7orf55,C7orf55-LUC7L2 EXON Silent,Silent,Silent,Silent,Missense_S8A,Missense_S8A exm661700 7 139026249 [A/G] NM_001244585,NR_073060,NR_073058,NR_073059,NM_197964,NM_001244584 LUC7L2,C7orf55,C7orf55,C7orf55,C7orf55,C7orf55-LUC7L2 EXON Silent,Silent,Silent,Silent,Missense_K40R,Missense_K40R exm661714 7 139083438 [C/G] NM_001244585,NM_001244584,NM_001270643,NM_016019 LUC7L2,C7orf55-LUC7L2,LUC7L2,LUC7L2 EXON Missense_L81V,Missense_L150V,Missense_L83V,Missense_L84V exm661715 7 139086903 [A/G] NM_001244585,NM_001244584,NM_001270643,NM_016019 LUC7L2,C7orf55-LUC7L2,LUC7L2,LUC7L2 EXON Synonymous_S89S,Synonymous_S158S,Synonymous_S91S,Synonymous_S92S exm2258155 7 139086903 [A/G] NM_001244585,NM_001244584,NM_001270643,NM_016019 LUC7L2,C7orf55-LUC7L2,LUC7L2,LUC7L2 EXON Synonymous_S89S,Synonymous_S158S,Synonymous_S91S,Synonymous_S92S exm661729 7 139102335 [A/C] NM_001244585,NM_001244584,NM_001270643,NM_016019,NR_033999 LUC7L2,C7orf55-LUC7L2,LUC7L2,LUC7L2,LOC100129148 EXON Missense_E284D,Missense_E353D,Missense_E286D,Missense_E287D,Silent exm661737 7 139106990 [A/C] NM_001244585,NM_001244584,NM_001270643,NM_016019,NR_033999 LUC7L2,C7orf55-LUC7L2,LUC7L2,LUC7L2,LOC100129148 EXON Missense_D358E,Missense_D427E,Missense_D360E,Missense_D361E,Silent exm661738 7 139107009 [A/C] NM_001244585,NM_001244584,NM_001270643,NM_016019,NR_033999 LUC7L2,C7orf55-LUC7L2,LUC7L2,LUC7L2,LOC100129148 EXON Missense_K365Q,Missense_K434Q,Missense_K367Q,Missense_K368Q,Silent exm661748 7 139138437 [T/C] NM_198508 KLRG2 EXON Missense_E376K exm661749 7 139138440 [T/C] NM_198508 KLRG2 EXON Missense_G375S exm661761 7 139138950 [C/G] NM_198508 KLRG2 EXON Missense_G339A exm661767 7 139164402 [T/C] NM_198508 KLRG2 EXON Missense_A326T exm661777 7 139164965 [T/G] NM_198508 KLRG2 EXON Nonsense_Y262X exm661791 7 139167928 [A/G] NM_198508 KLRG2 EXON Missense_P154L exm2264252 7 139185449 [A/C] exm2140557 7 139226819 [T/C] NM_001080511 CLEC2L EXON Missense_V162A exm661855 7 139259911 [A/G] NM_022740,NM_001113239 HIPK2,HIPK2 EXON Missense_P1030L,Missense_P1003L exm661863 7 139268623 [T/C] NM_022740,NM_001113239 HIPK2,HIPK2 EXON Missense_V969M,Missense_V942M exm661867 7 139268734 [T/G] NM_022740,NM_001113239 HIPK2,HIPK2 EXON Missense_N932H,Missense_N905H exm661885 7 139281707 [T/C] NM_022740,NM_001113239 HIPK2,HIPK2 EXON Missense_I825V,Missense_I798V exm661897 7 139285293 [T/C] NM_022740,NM_001113239 HIPK2,HIPK2 EXON Missense_A769T,Missense_A742T exm661917 7 139299116 [A/G] NM_022740,NM_001113239 HIPK2,HIPK2 EXON Missense_P636S,Missense_P609S exm2258157 7 139415775 [C/G] NM_022740,NM_001113239 HIPK2,HIPK2 EXON Synonymous_V353V,Synonymous_V353V exm661979 7 139529239 [T/C] NM_001130966,NM_001166254,NM_001061,NM_001166253,NR_029394,NM_030984 TBXAS1,TBXAS1,TBXAS1,TBXAS1,TBXAS1,TBXAS1 EXON Missense_T18M,Silent,Missense_T18M,Missense_T18M,Silent,Missense_T18M exm661985 7 139572122 [T/C] NM_001130966,NM_001166254,NM_001061,NM_001166253,NR_029394,NM_030984 TBXAS1,TBXAS1,TBXAS1,TBXAS1,TBXAS1,TBXAS1 EXON Missense_R61C,Silent,Missense_R61C,Missense_R61C,Silent,Missense_R61C exm661986 7 139572123 [A/G] NM_001130966,NM_001166254,NM_001061,NM_001166253,NR_029394,NM_030984 TBXAS1,TBXAS1,TBXAS1,TBXAS1,TBXAS1,TBXAS1 EXON Missense_R61H,Silent,Missense_R61H,Missense_R61H,Silent,Missense_R61H exm661989 7 139575408 [T/C] NM_001130966,NM_001166254,NM_001061,NM_001166253,NR_029394,NM_030984 TBXAS1,TBXAS1,TBXAS1,TBXAS1,TBXAS1,TBXAS1 EXON Missense_L71F,Missense_L3F,Missense_L71F,Missense_L71F,Silent,Missense_L71F exm661995 7 139611032 [T/C] NM_001130966,NM_001166254,NM_001061,NM_001166253,NR_029394,NM_030984 TBXAS1,TBXAS1,TBXAS1,TBXAS1,TBXAS1,TBXAS1 EXON Missense_L83P,Missense_L15P,Missense_L83P,Missense_L83P,Silent,Missense_L83P exm661996 7 139611050 [T/C] NM_001130966,NM_001166254,NM_001061,NM_001166253,NR_029394,NM_030984 TBXAS1,TBXAS1,TBXAS1,TBXAS1,TBXAS1,TBXAS1 EXON Missense_I89T,Missense_I21T,Missense_I89T,Missense_I89T,Silent,Missense_I89T exm662002 7 139635991 [T/C] NM_001130966,NM_001166254,NM_001061,NM_001166253,NR_029394,NM_030984 TBXAS1,TBXAS1,TBXAS1,TBXAS1,TBXAS1,TBXAS1 EXON Missense_A113V,Missense_A45V,Missense_A113V,Missense_A113V,Silent,Missense_A113V exm662013 7 139652440 [T/C] NM_001130966,NM_001166254,NM_001061,NM_001166253,NR_029394,NM_030984 TBXAS1,TBXAS1,TBXAS1,TBXAS1,TBXAS1,TBXAS1 EXON Silent,Silent,Silent,Missense_P182S,Silent,Silent exm662016 7 139653191 [T/C] NM_001130966,NM_001166254,NM_001061,NM_001166253,NR_029394,NM_030984 TBXAS1,TBXAS1,TBXAS1,TBXAS1,TBXAS1,TBXAS1 EXON Missense_C160R,Missense_C92R,Missense_C160R,Missense_C206R,Silent,Missense_C160R exm662018 7 139653196 [A/C] NM_001130966,NM_001166254,NM_001061,NM_001166253,NR_029394,NM_030984 TBXAS1,TBXAS1,TBXAS1,TBXAS1,TBXAS1,TBXAS1 EXON Missense_E161D,Missense_E93D,Missense_E161D,Missense_E207D,Silent,Missense_E161D exm662020 7 139653219 [A/G] NM_001130966,NM_001166254,NM_001061,NM_001166253,NR_029394,NM_030984 TBXAS1,TBXAS1,TBXAS1,TBXAS1,TBXAS1,TBXAS1 EXON Missense_R169H,Missense_R101H,Missense_R169H,Missense_R215H,Silent,Missense_R169H exm662026 7 139655310 [C/G] NM_001130966,NM_001166254,NM_001061,NM_001166253,NR_029394,NM_030984 TBXAS1,TBXAS1,TBXAS1,TBXAS1,TBXAS1,TBXAS1 EXON Missense_P199A,Missense_P131A,Missense_P199A,Missense_P245A,Silent,Missense_P199A exm662030 7 139655339 [A/T] NM_001130966,NM_001166254,NM_001061,NM_001166253,NR_029394,NM_030984 TBXAS1,TBXAS1,TBXAS1,TBXAS1,TBXAS1,TBXAS1 EXON Missense_D208E,Missense_D140E,Missense_D208E,Missense_D254E,Silent,Missense_D208E exm662031 7 139655341 [G/C] NM_001130966,NM_001166254,NM_001061,NM_001166253,NR_029394,NM_030984 TBXAS1,TBXAS1,TBXAS1,TBXAS1,TBXAS1,TBXAS1 EXON Missense_P209R,Missense_P141R,Missense_P209R,Missense_P255R,Silent,Missense_P209R exm662038 7 139657478 [A/G] NM_001130966,NM_001166254,NM_001061,NM_001166253,NR_029394,NM_030984 TBXAS1,TBXAS1,TBXAS1,TBXAS1,TBXAS1,TBXAS1 EXON Missense_N246S,Missense_N178S,Missense_N246S,Missense_N292S,Silent,Missense_N246S exm662040 7 139657513 [A/G] NM_001130966,NM_001166254,NM_001061,NM_001166253,NR_029394,NM_030984 TBXAS1,TBXAS1,TBXAS1,TBXAS1,TBXAS1,TBXAS1 EXON Missense_K258E,Missense_K190E,Missense_K258E,Missense_K304E,Silent,Missense_K258E exm662042 7 139657540 [T/C] NM_001130966,NM_001166254,NM_001061,NM_001166253,NR_029394,NM_030984 TBXAS1,TBXAS1,TBXAS1,TBXAS1,TBXAS1,TBXAS1 EXON Missense_R267W,Missense_R199W,Missense_R267W,Missense_R313W,Silent,Missense_R267W exm662051 7 139661830 [T/C] NM_001130966,NM_001166254,NM_001061,NM_001166253,NR_029394,NM_030984 TBXAS1,TBXAS1,TBXAS1,TBXAS1,TBXAS1,TBXAS1 EXON Missense_P312L,Missense_P244L,Missense_P312L,Missense_P358L,Silent,Missense_P312L exm662055 7 139661955 [T/G] NM_001130966,NM_001166254,NM_001061,NM_001166253,NR_029394,NM_030984 TBXAS1,TBXAS1,TBXAS1,TBXAS1,TBXAS1,TBXAS1 EXON Missense_A354S,Missense_A286S,Missense_A354S,Missense_A400S,Silent,Missense_A354S exm662056 7 139661964 [G/C] NM_001130966,NM_001166254,NM_001061,NM_001166253,NR_029394,NM_030984 TBXAS1,TBXAS1,TBXAS1,TBXAS1,TBXAS1,TBXAS1 EXON Missense_L357V,Missense_L289V,Missense_L357V,Missense_L403V,Silent,Missense_L357V exm2258158 7 139685695 [T/C] NM_001130966,NM_001166254,NM_001061,NM_001166253,NR_029394,NM_030984 TBXAS1,TBXAS1,TBXAS1,TBXAS1,TBXAS1,TBXAS1 Silent,Silent,Silent,Silent,Silent,Silent exm662061 7 139706915 [A/G] NM_001130966,NM_001166254,NM_001061,NM_001166253,NR_029394,NM_030984 TBXAS1,TBXAS1,TBXAS1,TBXAS1,TBXAS1,TBXAS1 EXON Missense_E388K,Missense_E320K,Missense_E388K,Missense_E434K,Silent,Missense_E388K exm662065 7 139715542 [G/C] NM_001130966,NM_001166254,NM_001061,NM_001166253,NR_029394,NM_030984 TBXAS1,TBXAS1,TBXAS1,TBXAS1,TBXAS1,TBXAS1 EXON Missense_Q417E,Missense_Q349E,Missense_Q417E,Missense_Q463E,Silent,Missense_Q417E exm662067 7 139715551 [A/G] NM_001130966,NM_001166254,NM_001061,NM_001166253,NR_029394,NM_030984 TBXAS1,TBXAS1,TBXAS1,TBXAS1,TBXAS1,TBXAS1 EXON Missense_E420K,Missense_E352K,Missense_E420K,Missense_E466K,Silent,Missense_E420K exm662071 7 139715566 [T/C] NM_001130966,NM_001166254,NM_001061,NM_001166253,NR_029394,NM_030984 TBXAS1,TBXAS1,TBXAS1,TBXAS1,TBXAS1,TBXAS1 EXON Missense_R425C,Missense_R357C,Missense_R425C,Missense_R471C,Silent,Missense_R425C exm662073 7 139715575 [A/G] NM_001130966,NM_001166254,NM_001061,NM_001166253,NR_029394,NM_030984 TBXAS1,TBXAS1,TBXAS1,TBXAS1,TBXAS1,TBXAS1 EXON Missense_A428T,Missense_A360T,Missense_A428T,Missense_A474T,Silent,Missense_A428T exm662074 7 139715581 [A/G] NM_001130966,NM_001166254,NM_001061,NM_001166253,NR_029394,NM_030984 TBXAS1,TBXAS1,TBXAS1,TBXAS1,TBXAS1,TBXAS1 EXON Missense_A430T,Missense_A362T,Missense_A430T,Missense_A476T,Silent,Missense_A430T exm662080 7 139715645 [A/C] NM_001130966,NM_001166254,NM_001061,NM_001166253,NR_029394,NM_030984 TBXAS1,TBXAS1,TBXAS1,TBXAS1,TBXAS1,TBXAS1 EXON Missense_T451N,Missense_T383N,Missense_T451N,Missense_T497N,Silent,Missense_T451N exm662097 7 139717602 [A/C] NM_001130966,NM_001166254,NM_001061,NM_001166253,NR_029394,NM_030984 TBXAS1,TBXAS1,TBXAS1,TBXAS1,TBXAS1,TBXAS1 EXON Missense_K500T,Missense_K432T,Missense_K500T,Missense_K546T,Silent,Silent exm662098 7 139717608 [A/G] NM_001130966,NM_001166254,NM_001061,NM_001166253,NR_029394,NM_030984 TBXAS1,TBXAS1,TBXAS1,TBXAS1,TBXAS1,TBXAS1 EXON Missense_R502Q,Missense_R434Q,Missense_R502Q,Missense_R548Q,Silent,Silent exm662101 7 139719829 [T/C] NM_001130966,NM_001166254,NM_001061,NM_001166253,NR_029394,NM_030984 TBXAS1,TBXAS1,TBXAS1,TBXAS1,TBXAS1,TBXAS1 EXON Missense_P512L,Missense_P444L,Missense_P512L,Missense_P558L,Silent,Missense_R458C exm2245077 7 139719888 [A/G] NM_001130966,NM_001166254,NM_001061,NM_001166253,NR_029394,NM_030984 TBXAS1,TBXAS1,TBXAS1,TBXAS1,TBXAS1,TBXAS1 EXON Missense_V532I,Missense_V464I,Missense_V532I,Missense_V578I,Silent,Silent exm662115 7 139724496 [T/A] NM_022750 PARP12 EXON Missense_D657V exm662118 7 139724530 [T/C] NM_022750 PARP12 EXON Missense_A646T exm662126 7 139724607 [A/G] NM_022750 PARP12 EXON Missense_A620V exm662138 7 139726120 [T/C] NM_022750 PARP12 EXON Missense_G553R exm662145 7 139727184 [A/G] NM_022750 PARP12 EXON Missense_S507L exm662152 7 139728476 [A/C] NM_022750 PARP12 EXON Missense_F478L exm662155 7 139734069 [T/C] NM_022750 PARP12 EXON Missense_V463M exm662177 7 139746720 [A/C] NM_022750 PARP12 EXON Missense_L317R exm662181 7 139746793 [T/C] NM_022750 PARP12 EXON Missense_V293I exm662185 7 139754482 [T/C] NM_022750 PARP12 EXON Missense_R281Q exm662199 7 139757712 [A/C] NM_022750 PARP12 EXON Missense_W150L exm662202 7 139757751 [T/C] NM_022750 PARP12 EXON Missense_Y137C exm662206 7 139757802 [A/G] NM_022750 PARP12 EXON Missense_T120I exm662227 7 139791645 [A/G] NM_030647 JHDM1D EXON Missense_P897L exm662246 7 139796423 [A/G] NM_030647 JHDM1D EXON Missense_P769L exm662251 7 139796499 [A/C] NM_030647 JHDM1D EXON Missense_L744V exm662257 7 139796750 [T/C] NM_030647 JHDM1D EXON Missense_N705S exm662258 7 139796765 [T/G] NM_030647 JHDM1D EXON Missense_S700Y exm2140691 7 139796783 [G/C] NM_030647 JHDM1D EXON Missense_S694C exm662265 7 139797431 [T/G] NM_030647 JHDM1D EXON Missense_R644S exm662266 7 139798739 [T/C] NM_030647 JHDM1D EXON Missense_I620V exm662284 7 139810930 [T/C] NM_030647 JHDM1D EXON Missense_I465V exm662301 7 139826594 [A/G] NM_030647 JHDM1D EXON Missense_I244T exm662306 7 139827328 [T/C] NM_030647 JHDM1D EXON Missense_M205I exm662319 7 139838935 [T/C] NM_030647 JHDM1D EXON Missense_N84D exm662320 7 139838968 [G/C] NM_030647 JHDM1D EXON Missense_H73D exm2266571 7 139884494 [A/G] exm662335 7 140035268 [G/C] NM_032295,NM_207113 SLC37A3,SLC37A3 EXON Missense_S376T,Missense_V477L exm662339 7 140037099 [A/G] NM_032295,NM_207113 SLC37A3,SLC37A3 EXON Missense_L359F,Synonymous_Y459Y exm662343 7 140037127 [T/C] NM_032295,NM_207113 SLC37A3,SLC37A3 EXON Synonymous_G349G,Missense_D450G exm662348 7 140043216 [A/C] NM_032295,NM_207113 SLC37A3,SLC37A3 EXON Silent,Missense_G441V exm662350 7 140043231 [A/G] NM_032295,NM_207113 SLC37A3,SLC37A3 EXON Silent,Missense_I436T exm662365 7 140045061 [T/A] NM_032295,NM_207113 SLC37A3,SLC37A3 EXON Silent,Missense_S377T exm2245082 7 140048443 [T/C] NM_032295,NM_207113 SLC37A3,SLC37A3 EXON Missense_D336G,Missense_D336G exm662392 7 140051245 [A/G] NM_032295,NM_207113 SLC37A3,SLC37A3 EXON Missense_S237L,Missense_S237L exm662399 7 140051901 [T/C] NM_032295,NM_207113 SLC37A3,SLC37A3 EXON Missense_V222I,Missense_V222I exm662403 7 140055478 [T/C] NM_032295,NM_207113 SLC37A3,SLC37A3 EXON Missense_Y203C,Missense_Y203C exm662404 7 140055485 [A/G] NM_032295,NM_207113 SLC37A3,SLC37A3 EXON Missense_L201F,Missense_L201F exm2140744 7 140064221 [A/G] NM_032295,NM_207113 SLC37A3,SLC37A3 EXON Missense_S121F,Missense_S121F exm2140745 7 140064261 [A/G] NM_032295,NM_207113 SLC37A3,SLC37A3 EXON Missense_R108W,Missense_R108W exm662415 7 140069428 [T/C] NM_032295,NM_207113 SLC37A3,SLC37A3 EXON Missense_G85S,Missense_G85S exm662419 7 140080087 [C/G] NM_032295,NM_207113 SLC37A3,SLC37A3 EXON Missense_V65L,Missense_V65L exm662421 7 140080114 [A/C] NM_032295,NM_207113 SLC37A3,SLC37A3 EXON Missense_A56S,Missense_A56S exm662425 7 140080185 [A/G] NM_032295,NM_207113 SLC37A3,SLC37A3 EXON Missense_S32L,Missense_S32L exm662447 7 140111711 [A/G] NM_001008749 RAB19 EXON Missense_R80H exm662448 7 140111716 [A/G] NM_001008749 RAB19 EXON Missense_I82V exm662449 7 140111722 [T/C] NM_001008749 RAB19 EXON Nonsense_Q84X exm662450 7 140111730 [A/C] NM_001008749 RAB19 EXON Nonsense_Y86X exm662457 7 140111856 [T/C] NM_001008749 RAB19 EXON Synonymous_I128I exm2270703 7 140120546 [T/C] NM_001008749 RAB19 Silent exm662459 7 140125750 [T/C] NM_001008749 RAB19 EXON Missense_Y152H exm662462 7 140125813 [A/G] NM_001008749 RAB19 EXON Missense_V173M exm662470 7 140125903 [A/G] NM_001008749 RAB19 EXON Missense_V203I exm2245085 7 140154366 [T/C] NM_013446 MKRN1 EXON Nonsense_W467X exm662482 7 140154896 [C/G] NM_013446 MKRN1 EXON Missense_R412P exm662513 7 140171689 [A/C] NM_013446,NM_001145125 MKRN1,MKRN1 EXON Missense_R103L,Missense_R103L exm662547 7 140221699 [T/C] NM_015689 DENND2A EXON Missense_R956Q exm662554 7 140221810 [A/G] NM_015689 DENND2A EXON Missense_T919M exm662556 7 140221837 [A/G] NM_015689 DENND2A EXON Missense_I910T exm662559 7 140221856 [T/C] NM_015689 DENND2A EXON Missense_V904I exm662569 7 140225574 [T/C] NM_015689 DENND2A EXON Missense_V842I exm2245086 7 140227141 [A/G] NM_015689 DENND2A EXON Missense_L828F exm662583 7 140227210 [T/C] NM_015689 DENND2A EXON Missense_A805T exm662588 7 140227293 [A/G] NM_015689 DENND2A EXON Missense_I777T exm-rs10237118 7 140231130 [A/C] NM_015689 DENND2A Silent exm662594 7 140244560 [T/C] NM_015689 DENND2A EXON Missense_E729K exm2258161 7 140259540 [A/G] NM_015689 DENND2A EXON Synonymous_A619A exm662614 7 140266970 [G/C] NM_015689 DENND2A EXON Missense_F565L exm662615 7 140266980 [T/C] NM_015689 DENND2A EXON Missense_R562K exm662617 7 140267004 [T/C] NM_015689 DENND2A EXON Missense_R554Q exm662618 7 140267005 [A/G] NM_015689 DENND2A EXON Missense_R554W exm662623 7 140267040 [T/C] NM_015689 DENND2A EXON Missense_R542Q exm662633 7 140273747 [A/G] NM_015689 DENND2A EXON Missense_L436P exm662636 7 140273789 [A/G] NM_015689 DENND2A EXON Missense_A422V exm662642 7 140285507 [A/G] NM_015689 DENND2A EXON Missense_P376L exm662647 7 140287504 [T/G] NM_015689 DENND2A EXON Missense_L358M exm662649 7 140287516 [T/C] NM_015689 DENND2A EXON Missense_A354T exm662671 7 140301503 [A/C] NM_015689 DENND2A EXON Missense_V232G exm662673 7 140301539 [A/G] NM_015689 DENND2A EXON Missense_S220L exm2258162 7 140301577 [A/G] NM_015689 DENND2A EXON Synonymous_G207G exm662682 7 140301731 [T/G] NM_015689 DENND2A EXON Missense_P156H exm2258163 7 140301736 [A/G] NM_015689 DENND2A EXON Synonymous_N154N exm662684 7 140301746 [T/C] NM_015689 DENND2A EXON Missense_R151H exm2258164 7 140301844 [C/G] NM_015689 DENND2A EXON Synonymous_G118G exm662693 7 140301909 [T/C] NM_015689 DENND2A EXON Missense_N97D exm662695 7 140301971 [A/G] NM_015689 DENND2A EXON Missense_P76L exm662696 7 140301990 [T/C] NM_015689 DENND2A EXON Missense_G70R exm662710 7 140373254 [T/C] NM_052853 ADCK2 EXON Missense_L42F exm662724 7 140373480 [A/G] NM_052853 ADCK2 EXON Missense_Y117C exm662727 7 140373540 [T/C] NM_052853 ADCK2 EXON Missense_A137V exm662738 7 140373873 [A/G] NM_052853 ADCK2 EXON Missense_G248D exm662744 7 140374049 [T/C] NM_052853 ADCK2 EXON Missense_S307P exm662745 7 140374052 [A/G] NM_052853 ADCK2 EXON Missense_V308M exm662747 7 140374064 [G/C] NM_052853 ADCK2 Silent exm662758 7 140379042 [T/C] NM_052853 ADCK2 EXON Missense_R390C exm662759 7 140379043 [A/G] NM_052853 ADCK2 EXON Missense_R390H exm662760 7 140379046 [T/C] NM_052853 ADCK2 EXON Missense_P391L exm662769 7 140386866 [T/C] NM_052853 ADCK2 EXON Missense_S461L exm662775 7 140386932 [T/C] NM_052853 ADCK2 EXON Missense_S483F exm662781 7 140389398 [A/G] NM_052853 ADCK2 EXON Missense_G520D exm662783 7 140389434 [A/G] NM_052853 ADCK2 EXON Missense_R532Q exm662790 7 140390574 [G/C] NM_052853 ADCK2 EXON Missense_S567R exm662795 7 140394527 [G/C] NM_052853 ADCK2 EXON Missense_R602P exm662797 7 140394547 [A/G] NM_052853 ADCK2 EXON Missense_D609N exm662800 7 140394563 [T/C] NM_052853 ADCK2 EXON Missense_A614V exm662803 7 140394587 [T/C] NM_052853 ADCK2 EXON Missense_P622L exm662804 7 140394599 [T/C] NM_052853 ADCK2 EXON Missense_P626L exm662810 7 140396561 [T/G] NR_024454,NM_004546 NDUFB2-AS1,NDUFB2 EXON Silent,Missense_R6L exm662820 7 140402722 [A/G] NM_004546 NDUFB2 EXON Missense_R52K exm2266572 7 140603652 [A/G] NM_004333 BRAF Silent exm662912 7 140710396 [T/C] NM_053035,NM_016071 MRPS33,MRPS33 EXON Missense_R13H,Missense_R13H exm2266484 7 140856581 [A/G] NM_001195278 TMEM178B Silent exm2258167 7 141137475 [T/C] NM_001195278 TMEM178B EXON Synonymous_I188I exm662925 7 141255283 [A/G] NM_018238 AGK EXON Missense_K6R exm662927 7 141255295 [A/G] NM_018238 AGK EXON Missense_N10S exm2270704 7 141286885 [T/C] NM_018238 AGK Silent exm662934 7 141311028 [G/C] NM_018238 AGK EXON Missense_E111Q exm662936 7 141313971 [C/G] NM_018238 AGK EXON Missense_T139R exm662948 7 141333767 [A/G] NM_018238 AGK EXON Missense_V219I exm662953 7 141341063 [T/C] NM_018238 AGK EXON Missense_H248Y exm662954 7 141341064 [A/C] NM_018238 AGK EXON Missense_H248P exm662955 7 141341085 [T/C] NM_018238 AGK EXON Missense_T255M exm662957 7 141341124 [A/C] NM_018238 AGK EXON Missense_T268N exm662962 7 141341613 [A/C] NM_018238 AGK EXON Missense_L294I exm662972 7 141349091 [T/C] NM_018238 AGK EXON Missense_I335T exm662976 7 141351366 [T/C] NM_018238 AGK EXON Missense_T363M exm662980 7 141362500 [G/C] NM_001080392 KIAA1147 EXON Missense_G442R exm662982 7 141362538 [T/C] NM_001080392 KIAA1147 EXON Missense_G429E exm662991 7 141364723 [T/G] NM_001080392 KIAA1147 EXON Missense_R362S exm662993 7 141364841 [A/C] NM_001080392 KIAA1147 EXON Missense_K322N exm662997 7 141365059 [C/G] NM_001080392 KIAA1147 EXON Missense_E294Q exm663007 7 141366203 [A/G] NM_001080392 KIAA1147 EXON Missense_M235T exm663025 7 141386452 [A/G] NM_001080392 KIAA1147 EXON Missense_M92T exm663032 7 141408581 [A/C] NR_015392,NM_001105558 FLJ40852,WEE2 EXON Silent,Missense_K8T exm663036 7 141408627 [G/C] NR_015392,NM_001105558 FLJ40852,WEE2 EXON Silent,Missense_E23D exm663042 7 141408757 [A/G] NR_015392,NM_001105558 FLJ40852,WEE2 EXON Silent,Missense_D67N exm663045 7 141408833 [T/C] NR_015392,NM_001105558 FLJ40852,WEE2 EXON Silent,Missense_P92L exm663050 7 141414022 [A/G] NR_015392,NM_001105558 FLJ40852,WEE2 EXON Silent,Missense_R119Q exm663056 7 141418905 [T/C] NR_015392,NM_001105558 FLJ40852,WEE2 EXON Silent,Missense_R207C exm663068 7 141422961 [A/C] NR_015392,NM_001105558 FLJ40852,WEE2 EXON Silent,Missense_E303A exm663082 7 141424883 [A/G] NR_015392,NM_001105558 FLJ40852,WEE2 EXON Silent,Missense_A427T exm663087 7 141424964 [G/C] NR_015392,NM_001105558 FLJ40852,WEE2 EXON Silent,Missense_E454Q exm663088 7 141427108 [T/C] NR_015392,NM_001105558 FLJ40852,WEE2 EXON Silent,Missense_M466T exm663091 7 141427170 [T/C] NR_015392,NM_001105558 FLJ40852,WEE2 EXON Silent,Missense_R487W exm663095 7 141429371 [T/G] NR_015392,NM_001105558 FLJ40852,WEE2 EXON Silent,Missense_Y526D exm663103 7 141438979 [T/C] NM_003143,NM_001256513,NM_001256511,NM_001256512,NR_046269,NM_001256510 SSBP1,SSBP1,SSBP1,SSBP1,SSBP1,SSBP1 EXON Missense_P5S,Missense_P5S,Missense_P5S,Missense_P5S,Silent,Missense_P5S exm663109 7 141441976 [A/G] NM_003143,NM_001256513,NM_001256511,NM_001256512,NR_046269,NM_001256510 SSBP1,SSBP1,SSBP1,SSBP1,SSBP1,SSBP1 EXON Missense_R11H,Missense_R11H,Missense_R11H,Missense_R11H,Silent,Missense_R11H exm2141003 7 141441981 [T/C] NM_003143,NM_001256513,NM_001256511,NM_001256512,NR_046269,NM_001256510 SSBP1,SSBP1,SSBP1,SSBP1,SSBP1,SSBP1 EXON Missense_F13L,Missense_F13L,Missense_F13L,Missense_F13L,Silent,Missense_F13L exm2141007 7 141443499 [T/C] NM_003143,NM_001256513,NM_001256511,NM_001256512,NR_046269,NM_001256510 SSBP1,SSBP1,SSBP1,SSBP1,SSBP1,SSBP1 EXON Missense_L75P,Missense_L75P,Missense_L75P,Missense_L75P,Silent,Missense_L75P exm663127 7 141464029 [A/G] NM_016943 TAS2R3 EXON Missense_N24S exm663129 7 141464038 [T/C] NM_016943 TAS2R3 EXON Missense_I27T exm663131 7 141464050 [A/G] NM_016943 TAS2R3 EXON Missense_N31S exm663132 7 141464063 [A/G] NM_016943 TAS2R3 EXON Nonsense_W35X exm663140 7 141464307 [T/C] NM_016943 TAS2R3 EXON Missense_P117S exm663143 7 141464348 [A/G] NM_016943 TAS2R3 EXON Missense_M130I exm663151 7 141464412 [T/G] NM_016943 TAS2R3 EXON Missense_F152V exm663153 7 141464458 [T/G] NM_016943 TAS2R3 EXON Missense_V167G exm663157 7 141464494 [A/G] NM_016943 TAS2R3 EXON Missense_Y179C exm663175 7 141478296 [A/G] NM_016944 TAS2R4 EXON Missense_R3Q exm663178 7 141478305 [A/C] NM_016944 TAS2R4 EXON Missense_Y6S exm663179 7 141478308 [T/C] NM_016944 TAS2R4 EXON Missense_F7S exm663181 7 141478362 [T/C] NM_016944 TAS2R4 EXON Missense_L25P exm663187 7 141478474 [A/T] NM_016944 TAS2R4 EXON Missense_F62L exm663193 7 141478509 [T/C] NM_016944 TAS2R4 EXON Missense_T74M exm663199 7 141478574 [G/C] NM_016944 TAS2R4 EXON Missense_V96L exm663203 7 141478691 [C/G] NM_016944 TAS2R4 EXON Missense_A135P exm663209 7 141478800 [A/G] NM_016944 TAS2R4 EXON Missense_S171N exm663212 7 141478859 [A/G] NM_016944 TAS2R4 EXON Missense_I191V exm663216 7 141478953 [T/C] NM_016944 TAS2R4 EXON Missense_T222M exm663217 7 141478956 [A/G] NM_016944 TAS2R4 EXON Missense_E223G exm663218 7 141478964 [A/G] NM_016944 TAS2R4 EXON Missense_V226I exm663233 7 141490219 [A/G] NM_018980 TAS2R5 EXON Missense_G20S exm663234 7 141490238 [T/G] NM_018980 TAS2R5 EXON Missense_S26I exm663235 7 141490280 [A/G] NM_018980 TAS2R5 EXON Missense_N40S exm663237 7 141490325 [A/G] NM_018980 TAS2R5 EXON Missense_R55Q exm663238 7 141490396 [T/C] NM_018980 TAS2R5 EXON Missense_R79C exm663242 7 141490447 [A/G] NM_018980 TAS2R5 EXON Missense_A96T exm663247 7 141490499 [T/C] NM_018980 TAS2R5 EXON Missense_P113L exm663249 7 141490531 [A/G] NM_018980 TAS2R5 EXON Missense_N124D exm663258 7 141490643 [A/C] NM_018980 TAS2R5 EXON Missense_P161H exm663259 7 141490661 [A/G] NM_018980 TAS2R5 EXON Missense_Y167C exm663262 7 141490789 [A/G] NM_018980 TAS2R5 EXON Missense_R210G exm663264 7 141490799 [A/G] NM_018980 TAS2R5 EXON Missense_R213Q exm663269 7 141490894 [A/G] NM_018980 TAS2R5 EXON Missense_K245E exm663273 7 141491042 [T/G] NM_018980 TAS2R5 EXON Missense_R294L exm663274 7 141491049 [G/C] NM_018980 TAS2R5 EXON Missense_C296W exm2258168 7 141536258 [A/G] NM_001008270,NM_001171951 PRSS37,PRSS37 EXON Synonymous_V215V,Synonymous_V214V exm2245097 7 141537719 [T/C] NM_001008270,NM_001171951 PRSS37,PRSS37 EXON Missense_N124S,Missense_N124S exm663290 7 141537735 [T/G] NM_001008270,NM_001171951 PRSS37,PRSS37 EXON Missense_T119P,Missense_T119P exm663293 7 141537779 [T/C] NM_001008270,NM_001171951 PRSS37,PRSS37 EXON Missense_K104R,Missense_K104R exm663295 7 141537804 [A/G] NM_001008270,NM_001171951 PRSS37,PRSS37 EXON Missense_P96S,Missense_P96S exm663296 7 141537807 [T/C] NM_001008270,NM_001171951 PRSS37,PRSS37 EXON Missense_A95T,Missense_A95T exm663299 7 141537838 [A/C] NM_001008270,NM_001171951 PRSS37,PRSS37 EXON Missense_Q84H,Missense_Q84H exm663301 7 141537869 [T/A] NM_001008270,NM_001171951 PRSS37,PRSS37 EXON Missense_D74V,Missense_D74V exm663312 7 141539277 [T/C] NM_001008270,NM_001171951 PRSS37,PRSS37 EXON Missense_T13A,Missense_T13A exm663315 7 141540819 [T/C] NM_001008270,NM_001171951 PRSS37,PRSS37 EXON Missense_A11T,Missense_A11T exm663327 7 141618844 [G/C] NM_001001656 OR9A4 EXON Missense_P57A exm663331 7 141618931 [A/C] NM_001001656 OR9A4 EXON Missense_L86I exm663339 7 141619042 [T/C] NM_001001656 OR9A4 EXON Missense_Y123H exm663344 7 141619168 [T/C] NM_001001656 OR9A4 EXON Nonsense_Q165X exm663345 7 141619175 [T/C] NM_001001656 OR9A4 EXON Missense_T167I exm2258170 7 141619389 [T/C] NM_001001656 OR9A4 EXON Synonymous_F238F exm663363 7 141619552 [T/C] NM_001001656 OR9A4 EXON Missense_R293W exm663370 7 141629932 [A/C] NM_013252 CLEC5A EXON Missense_R180L exm663383 7 141631550 [T/C] NM_013252 CLEC5A EXON Missense_R141H exm2141066 7 141635690 [T/G] NM_013252 CLEC5A EXON Nonsense_S90X exm2245098 7 141643711 [T/C] NM_013252 CLEC5A EXON Missense_R65G exm663401 7 141646059 [A/C] NM_013252 CLEC5A EXON Missense_V12L exm663407 7 141672604 [T/C] NM_176817 TAS2R38 EXON Missense_I296V exm663412 7 141672669 [T/C] NM_176817 TAS2R38 EXON Missense_R274H exm663413 7 141672670 [A/G] NM_176817 TAS2R38 EXON Missense_R274C exm663414 7 141672705 [A/G] NM_176817 TAS2R38 EXON Missense_A262V exm663417 7 141672786 [T/C] NM_176817 TAS2R38 EXON Missense_R235H exm663418 7 141672821 [T/G] NM_176817 TAS2R38 EXON Missense_H223Q exm663419 7 141672841 [T/G] NM_176817 TAS2R38 EXON Missense_T217P exm663421 7 141672921 [T/C] NM_176817 TAS2R38 EXON Missense_N190S exm663423 7 141673074 [T/C] NM_176817 TAS2R38 EXON Missense_K139R exm663424 7 141673087 [A/C] NM_176817 TAS2R38 EXON Missense_W135G exm663427 7 141673251 [T/C] NM_176817 TAS2R38 EXON Missense_H80R exm663429 7 141673299 [T/C] NM_176817 TAS2R38 EXON Missense_R64Q exm663431 7 141673345 [C/G] NM_176817 TAS2R38 EXON Missense_A49P exm663432 7 141673384 [T/C] NM_176817 TAS2R38 EXON Missense_V36I exm663440 7 141673473 [T/C] NM_176817 TAS2R38 EXON Missense_R6H exm663441 7 141673483 [T/A] NM_176817 TAS2R38 EXON Missense_T3S exm2262256 7 141694805 [A/G] exm663442 7 141705403 [A/G] NM_004668 MGAM EXON Missense_I25V exm663443 7 141705413 [T/C] NM_004668 MGAM EXON Missense_I28T exm663445 7 141708321 [T/C] NM_004668 MGAM EXON Missense_T48I exm663465 7 141719078 [A/G] NM_004668 MGAM EXON Missense_H136R exm663468 7 141720785 [T/C] NM_004668 MGAM EXON Missense_R154W exm663483 7 141722121 [T/C] NM_004668 MGAM EXON Missense_S255F exm663489 7 141724872 [T/C] NM_004668 MGAM EXON Missense_A302V exm663492 7 141724935 [A/G] NM_004668 MGAM EXON Missense_N323S exm663493 7 141724946 [A/G] NM_004668 MGAM EXON Missense_M327V exm663494 7 141726950 [T/C] NM_004668 MGAM EXON Missense_R340C exm663495 7 141726957 [T/C] NM_004668 MGAM EXON Missense_I342T exm663502 7 141727444 [T/C] NM_004668 MGAM EXON Missense_A377V exm663503 7 141727450 [A/G] NM_004668 MGAM EXON Missense_G379E exm663508 7 141727485 [A/G] NM_004668 MGAM EXON Missense_D391N exm663510 7 141727489 [A/G] NM_004668 MGAM EXON Missense_N392S exm663517 7 141727526 [T/G] NM_004668 MGAM EXON Missense_Q404H exm663523 7 141730471 [A/G] NM_004668 MGAM EXON Missense_S462G exm663529 7 141732627 [T/G] NM_004668 MGAM EXON Missense_D529E exm663532 7 141732665 [T/C] NM_004668 MGAM EXON Missense_S542L exm2258171 7 141734563 [A/G] NM_004668 MGAM EXON Synonymous_G627G exm663544 7 141734593 [A/C] NM_004668 MGAM EXON Missense_R637S exm663546 7 141734609 [A/G] NM_004668 MGAM EXON Missense_V643M exm663557 7 141736643 [T/G] NM_004668 MGAM EXON Missense_F699L exm663559 7 141736732 [A/G] NM_004668 MGAM EXON Missense_R729H exm2141121 7 141736753 [T/C] NM_004668 MGAM EXON Missense_T736M exm663563 7 141738370 [T/G] NM_004668 MGAM EXON Missense_Q757H exm663576 7 141747632 [A/G] NM_004668 MGAM EXON Missense_E849G exm663577 7 141747646 [T/C] NM_004668 MGAM EXON Missense_L854F exm663579 7 141747658 [A/G] NM_004668 MGAM EXON Missense_N858D exm663583 7 141750543 [A/G] NM_004668 MGAM EXON Missense_N895S exm663590 7 141752139 [A/G] NM_004668 MGAM EXON Missense_T951A exm663608 7 141752722 [A/G] NM_004668 MGAM EXON Missense_T1033A exm2245101 7 141754687 [A/G] NM_004668 MGAM EXON Missense_R1098Q exm663646 7 141755804 [A/G] NM_004668 MGAM EXON Missense_K1163R exm663649 7 141755854 [T/G] NM_004668 MGAM EXON Missense_G1180C exm663651 7 141756650 [T/C] NM_004668 MGAM EXON Missense_P1201S exm663652 7 141756665 [T/C] NM_004668 MGAM EXON Missense_R1206C exm663655 7 141756705 [A/G] NM_004668 MGAM EXON Missense_G1219E exm663656 7 141756708 [G/C] NM_004668 MGAM EXON Missense_P1220R exm2258172 7 141759994 [T/C] NM_004668 MGAM Silent exm663700 7 141763386 [T/C] NM_004668 MGAM EXON Missense_H1449Y exm663712 7 141765139 [A/G] NM_004668 MGAM EXON Missense_V1497M exm663784 7 141803090 [A/G] NM_004668 MGAM EXON Missense_I1783V exm663790 7 141803238 [A/G] NM_004668 MGAM EXON Missense_Q1832R exm663806 7 141952308 [T/C] NM_001001317 PRSS58 EXON Missense_R187K exm663814 7 141952367 [A/C] NM_001001317 PRSS58 EXON Missense_D167E exm663816 7 141952371 [T/C] NM_001001317 PRSS58 EXON Missense_R166H exm663819 7 141952420 [T/C] NM_001001317 PRSS58 EXON Missense_D150N exm663836 7 141955070 [T/C] NM_001001317 PRSS58 EXON Missense_V81M exm663840 7 141955124 [A/G] NM_001001317 PRSS58 EXON Missense_R63W exm663853 7 141957488 [T/C] NM_001001317 PRSS58 EXON Missense_V14I exm2270706 7 142196434 [T/C] exm664658 7 142457376 [A/G] NM_002769 PRSS1 Silent exm664665 7 142458414 [T/C] NM_002769 PRSS1 EXON Missense_P17S exm2141431 7 142458527 [C/G] NM_002769 PRSS1 EXON Missense_N54K exm664716 7 142459680 [T/C] NM_002769 PRSS1 EXON Nonsense_Q86X exm664724 7 142459722 [A/G] NM_002769 PRSS1 EXON Missense_D100N exm664725 7 142459737 [A/G] NM_002769 PRSS1 EXON Missense_N105D exm664726 7 142459749 [A/C] NM_002769 PRSS1 EXON Missense_M109L exm664729 7 142459767 [T/A] NM_002769 PRSS1 EXON Missense_S115T exm664730 7 142459771 [G/C] NM_002769 PRSS1 EXON Missense_R116P exm664734 7 142459785 [T/G] NM_002769 PRSS1 EXON Missense_A121S exm664737 7 142459797 [A/G] NM_002769 PRSS1 EXON Missense_T125A exm2275981 7 142459815 [A/G] NM_002769 PRSS1 EXON Missense_A131T exm664741 7 142459827 [A/G] NM_002769 PRSS1 EXON Missense_T135A exm664743 7 142459834 [T/C] NM_002769 PRSS1 EXON Missense_T137M exm664744 7 142459840 [C/G] NM_002769 PRSS1 EXON Missense_C139S exm664748 7 142459877 [T/C] NM_002769 PRSS1 EXON Synonymous_G151G exm664776 7 142460744 [C/G] NM_002769 PRSS1 EXON Missense_C206S exm2141459 7 142460750 [G/C] NM_002769 PRSS1 EXON Missense_G208A exm664779 7 142460752 [C/G] NM_002769 PRSS1 EXON Missense_Q209E exm664785 7 142460838 [A/C] NM_002769 PRSS1 EXON Missense_K237N exm664786 7 142460848 [A/G] NM_002769 PRSS1 EXON Missense_N241D exm664806 7 142480014 [T/G] NR_001296,NM_002770 PRSS3P2,PRSS2 EXON Silent,Missense_G36V exm2245131 7 142481301 [G/C] NR_001296,NM_002770 PRSS3P2,PRSS2 EXON Silent,Missense_H111D exm664825 7 142481317 [A/G] NR_001296,NM_002770 PRSS3P2,PRSS2 EXON Silent,Missense_C116Y exm664985 7 142561922 [A/G] NM_004445 EPHB6 EXON Missense_G122S exm664993 7 142562010 [A/G] NM_004445 EPHB6 EXON Missense_R151H exm664997 7 142562055 [T/C] NM_004445 EPHB6 EXON Missense_S166F exm665005 7 142562154 [A/G] NM_004445 EPHB6 EXON Missense_R199Q exm665009 7 142562292 [T/C] NM_004445 EPHB6 EXON Missense_T245M exm665011 7 142562420 [A/G] NM_004445 EPHB6 EXON Missense_G288R exm665014 7 142562484 [A/G] NM_004445 EPHB6 EXON Missense_R309Q exm665017 7 142563253 [T/G] NM_004445 EPHB6 EXON Missense_S324A exm665018 7 142563278 [T/C] NM_004445 EPHB6 EXON Missense_S332L exm2141511 7 142563328 [T/C] NM_004445 EPHB6 EXON Missense_P349S exm665037 7 142563912 [A/G] NM_004445 EPHB6 EXON Missense_D434N exm665053 7 142564807 [C/G] NM_004445 EPHB6 EXON Missense_F577L exm665074 7 142566065 [T/C] NM_004445 EPHB6 EXON Missense_A662V exm665099 7 142566731 [A/G] NM_004445 EPHB6 EXON Missense_R763Q exm665110 7 142567571 [T/G] NM_004445 EPHB6 EXON Missense_G820V exm2245137 7 142568063 [T/C] NM_004445 EPHB6 EXON Missense_R902C exm665129 7 142568394 [G/C] NM_004445 EPHB6 EXON Missense_K971N exm665131 7 142568568 [A/G] NM_004445 EPHB6 EXON Missense_I993V exm665143 7 142569596 [A/G] NM_018646 TRPV6 EXON Missense_M681T exm665144 7 142569615 [A/G] NM_018646 TRPV6 EXON Missense_P675S exm665152 7 142570159 [A/G] NM_018646 TRPV6 EXON Missense_R621W exm665158 7 142570231 [T/C] NM_018646 TRPV6 EXON Missense_I597V exm2245140 7 142572711 [T/C] NM_018646 TRPV6 EXON Missense_G411E exm665195 7 142572907 [A/G] NM_018646 TRPV6 EXON Missense_M378T exm665196 7 142572908 [T/C] NM_018646 TRPV6 EXON Missense_M378V exm2258176 7 142573353 [A/G] NM_018646 TRPV6 EXON Synonymous_C330C exm665225 7 142573614 [A/G] NM_018646 TRPV6 EXON Missense_T269M exm665228 7 142573644 [A/T] NM_018646 TRPV6 EXON Missense_L259Q exm665234 7 142574256 [T/C] NM_018646 TRPV6 EXON Missense_D223N exm665239 7 142574509 [T/C] NM_018646 TRPV6 EXON Missense_R190Q exm665243 7 142574584 [T/C] NM_018646 TRPV6 EXON Missense_H165R exm665246 7 142574913 [A/G] NM_018646 TRPV6 EXON Missense_C157R exm665249 7 142574967 [A/G] NM_018646 TRPV6 EXON Missense_R139C exm665262 7 142575470 [T/C] NM_018646 TRPV6 EXON Missense_A95T exm665291 7 142605840 [A/G] NM_019841 TRPV5 EXON Missense_A677V exm2258177 7 142609699 [A/G] NM_019841 TRPV5 EXON Synonymous_G579G exm665306 7 142609710 [T/C] NM_019841 TRPV5 EXON Missense_A576T exm665309 7 142609749 [T/C] NM_019841 TRPV5 EXON Missense_A563T exm665310 7 142609755 [T/C] NM_019841 TRPV5 EXON Missense_A561T exm665311 7 142609760 [T/C] NM_019841 TRPV5 EXON Missense_N559S exm665315 7 142609915 [T/C] NM_019841 TRPV5 EXON Synonymous_A507A exm665318 7 142611809 [T/C] NM_019841 TRPV5 Silent exm665319 7 142611811 [A/G] NM_019841 TRPV5 EXON Synonymous_S506S exm665323 7 142612107 [T/C] NM_019841 TRPV5 EXON Missense_M466V exm665335 7 142622671 [A/G] NM_019841 TRPV5 EXON Missense_R359C exm665336 7 142622682 [T/C] NM_019841 TRPV5 EXON Missense_R355H exm665343 7 142622769 [T/C] NM_019841 TRPV5 EXON Missense_R326Q exm665350 7 142625305 [A/G] NM_019841 TRPV5 EXON Missense_R263W exm665352 7 142625327 [T/C] NM_019841 TRPV5 EXON Missense_M255I exm2274276 7 142626595 [A/G] NM_019841 TRPV5 EXON Missense_R139C exm665382 7 142627491 [A/G] NM_019841 TRPV5 EXON Missense_V60A exm665388 7 142630489 [A/G] NM_019841 TRPV5 EXON Missense_L23P exm665393 7 142630534 [A/G] NM_019841 TRPV5 EXON Missense_A8V exm665403 7 142636666 [T/C] NM_178829 C7orf34 EXON Missense_S8F exm665404 7 142636704 [T/C] NM_178829 C7orf34 EXON Missense_W21R exm665410 7 142636783 [A/G] NM_178829 C7orf34 EXON Missense_Q47R exm665417 7 142637453 [C/G] NM_178829 C7orf34 EXON Missense_Q75E exm665420 7 142637478 [T/C] NM_178829 C7orf34 EXON Missense_S83F exm665421 7 142637502 [T/G] NM_178829 C7orf34 EXON Missense_V91G exm665425 7 142637601 [T/C] NM_178829 C7orf34 EXON Missense_V124A exm665426 7 142637604 [T/C] NM_178829 C7orf34 EXON Missense_M125T exm665434 7 142638355 [T/C] NM_000420 KEL EXON Missense_R728H exm665435 7 142638362 [A/G] NM_000420 KEL EXON Missense_S726P exm665440 7 142638431 [G/C] NM_000420 KEL EXON Missense_G703R exm665442 7 142638464 [T/C] NM_000420 KEL EXON Missense_D692N exm665445 7 142638473 [A/C] NM_000420 KEL EXON Missense_D689Y exm665466 7 142640111 [T/C] NM_000420 KEL EXON Missense_A598T exm665467 7 142640113 [A/G] NM_000420 KEL EXON Missense_L597P exm2245146 7 142640661 [T/C] NM_000420 KEL EXON Missense_V539I exm665485 7 142641420 [A/T] NM_000420 KEL EXON Missense_E494V exm665487 7 142641426 [T/C] NM_000420 KEL EXON Missense_R492Q exm665491 7 142641752 [A/G] NM_000420 KEL EXON Missense_T464I exm665501 7 142643310 [A/G] NM_000420 KEL EXON Missense_P433L exm665510 7 142643371 [T/C] NM_000420 KEL EXON Missense_E413K exm665511 7 142643397 [T/C] NM_000420 KEL EXON Missense_R404H exm665517 7 142649646 [A/G] NM_000420 KEL EXON Missense_R385C exm2141704 7 142651031 [T/C] NM_000420 KEL EXON Missense_A313T exm665538 7 142651290 [A/G] NM_000420 KEL EXON Missense_V302A exm665542 7 142651354 [A/G] NM_000420 KEL EXON Missense_R281W exm665543 7 142651363 [T/G] NM_000420 KEL EXON Missense_I278L exm665554 7 142655008 [A/G] NM_000420 KEL EXON Missense_T193M exm665555 7 142655047 [T/C] NM_000420 KEL EXON Missense_R180H exm665558 7 142655429 [T/C] NM_000420 KEL EXON Missense_A163T exm665569 7 142658480 [A/G] NM_000420 KEL EXON Missense_L64F exm665570 7 142658498 [A/G] NM_000420 KEL EXON Missense_L58F exm665577 7 142658922 [T/C] NM_000420 KEL EXON Missense_R14H exm2245147 7 142659292 [A/G] NM_000420 KEL EXON Missense_M1T exm665585 7 142723313 [A/G] NM_001001658 OR9A2 EXON Missense_R303C exm665587 7 142723327 [T/C] NM_001001658 OR9A2 EXON Missense_R298Q exm665591 7 142723375 [T/A] NM_001001658 OR9A2 EXON Missense_N282I exm665594 7 142723454 [T/C] NM_001001658 OR9A2 EXON Missense_V256M exm2141726 7 142723455 [A/G] NM_001001658 OR9A2 EXON Synonymous_Y255Y exm665595 7 142723477 [T/C] NM_001001658 OR9A2 EXON Missense_Y248C exm665596 7 142723505 [A/G] NM_001001658 OR9A2 EXON Missense_S239P exm665605 7 142723690 [T/C] NM_001001658 OR9A2 EXON Missense_R177Q exm665606 7 142723691 [A/G] NM_001001658 OR9A2 EXON Nonsense_R177X exm665610 7 142723727 [A/G] NM_001001658 OR9A2 EXON Missense_R165C exm665637 7 142749439 [T/C] NM_001001667 OR6V1 EXON Missense_M1T exm665638 7 142749456 [T/C] NM_001001667 OR6V1 EXON Missense_P7S exm665639 7 142749505 [A/C] NM_001001667 OR6V1 EXON Missense_A23D exm665647 7 142749822 [T/C] NM_001001667 OR6V1 EXON Missense_R129C exm665648 7 142749823 [A/G] NM_001001667 OR6V1 EXON Missense_R129H exm665650 7 142749843 [T/C] NM_001001667 OR6V1 EXON Missense_R136W exm665652 7 142749919 [A/G] NM_001001667 OR6V1 EXON Missense_R161Q exm665654 7 142749928 [T/C] NM_001001667 OR6V1 EXON Missense_L164P exm665660 7 142750009 [A/G] NM_001001667 OR6V1 EXON Missense_R191H exm665663 7 142750147 [T/C] NM_001001667 OR6V1 EXON Missense_S237F exm665668 7 142750243 [A/G] NM_001001667 OR6V1 EXON Missense_R269K exm665670 7 142750251 [A/G] NM_001001667 OR6V1 EXON Missense_V272M exm665673 7 142750318 [T/C] NM_001001667 OR6V1 EXON Missense_T294I exm665674 7 142750321 [T/C] NM_001001667 OR6V1 EXON Missense_V295A exm665677 7 142750374 [T/C] NM_001001667 OR6V1 EXON Nonsense_Q313X exm665682 7 142829211 [T/G] NM_002652 PIP EXON Missense_M1R exm665687 7 142829304 [C/G] NM_002652 PIP EXON Missense_T32S exm665689 7 142832295 [T/C] NM_002652 PIP EXON Missense_I35T exm665696 7 142836203 [A/T] NM_002652 PIP EXON Missense_Q79H exm665701 7 142836284 [T/C] NM_002652 PIP Silent exm665705 7 142836631 [A/G] NM_002652 PIP EXON Missense_V113I exm665707 7 142836634 [A/G] NM_002652 PIP EXON Missense_V114I exm665708 7 142836646 [T/C] NM_002652 PIP EXON Missense_R118W exm665709 7 142836665 [G/C] NM_002652 PIP EXON Missense_P124R exm665710 7 142836668 [A/G] NM_002652 PIP EXON Missense_D125G exm665715 7 142880516 [T/G] NM_176881 TAS2R39 EXON Missense_L2R exm665716 7 142880523 [A/C] NM_176881 TAS2R39 EXON Missense_R4S exm665723 7 142880830 [A/G] NM_176881 TAS2R39 EXON Missense_D107N exm665729 7 142880936 [T/C] NM_176881 TAS2R39 EXON Missense_F142S exm2141764 7 142881007 [A/G] NM_176881 TAS2R39 EXON Missense_V166M exm665732 7 142881010 [T/A] NM_176881 TAS2R39 EXON Missense_F167I exm665734 7 142881081 [C/G] NM_176881 TAS2R39 EXON Missense_I190M exm665735 7 142881089 [T/C] NM_176881 TAS2R39 EXON Missense_S193F exm665738 7 142881133 [A/G] NM_176881 TAS2R39 EXON Missense_G208S exm665740 7 142881243 [G/C] NM_176881 TAS2R39 EXON Missense_S244R exm665741 7 142881269 [A/G] NM_176881 TAS2R39 EXON Missense_S253N exm665744 7 142881461 [A/G] NM_176881 TAS2R39 EXON Missense_G317E exm665750 7 142919238 [G/C] NM_176882 TAS2R40 EXON Missense_V23L exm665751 7 142919247 [A/G] NM_176882 TAS2R40 EXON Missense_G26R exm665755 7 142919424 [T/C] NM_176882 TAS2R40 EXON Nonsense_R85X exm665757 7 142919440 [A/G] NM_176882 TAS2R40 EXON Missense_Q90R exm665771 7 142919731 [A/C] NM_176882 TAS2R40 EXON Missense_S187Y exm665777 7 142919988 [A/G] NM_176882 TAS2R40 EXON Missense_T273A exm665778 7 142919995 [G/C] NM_176882 TAS2R40 EXON Missense_S275T exm665779 7 142920042 [A/G] NM_176882 TAS2R40 EXON Missense_G291S exm665780 7 142920054 [T/C] NM_176882 TAS2R40 EXON Nonsense_Q295X exm665786 7 142960626 [T/C] NM_001143680,NM_001143681,NM_001143679,NM_015917 GSTK1,GSTK1,GSTK1,GSTK1 EXON Missense_T7I,Missense_T7I,Missense_T7I,Missense_T7I exm665796 7 142961256 [C/G] NM_001143680,NM_001143681,NM_001143679,NM_015917 GSTK1,GSTK1,GSTK1,GSTK1 EXON Missense_D50E,Missense_D50E,Missense_D50E,Missense_D50E exm665802 7 142962124 [T/C] NM_001143680,NM_001143681,NM_001143679,NM_015917 GSTK1,GSTK1,GSTK1,GSTK1 EXON Missense_L108S,Missense_L65S,Missense_L108S,Missense_L108S exm665805 7 142962151 [T/C] NM_001143680,NM_001143681,NM_001143679,NM_015917 GSTK1,GSTK1,GSTK1,GSTK1 EXON Missense_A117V,Missense_A74V,Missense_A117V,Missense_A117V exm2141786 7 142962183 [A/G] NM_001143680,NM_001143681,NM_001143679,NM_015917 GSTK1,GSTK1,GSTK1,GSTK1 EXON Missense_R128G,Missense_R85G,Missense_R128G,Missense_R128G exm665806 7 142962203 [A/G] NM_001143680,NM_001143681,NM_001143679,NM_015917 GSTK1,GSTK1,GSTK1,GSTK1 EXON Silent,Silent,Nonsense_W134X,Silent exm665809 7 142962325 [A/G] NM_001143680,NM_001143681,NM_001143679,NM_015917 GSTK1,GSTK1,GSTK1,GSTK1 EXON Silent,Silent,Missense_R175H,Silent exm665812 7 142964771 [T/C] NM_001143680,NM_001143681,NM_001143679,NM_015917 GSTK1,GSTK1,GSTK1,GSTK1 EXON Missense_T149M,Missense_T118M,Missense_T217M,Missense_T161M exm665820 7 142965902 [T/C] NM_001143680,NM_001143681,NM_001143679,NM_015917 GSTK1,GSTK1,GSTK1,GSTK1 EXON Missense_I206T,Missense_I175T,Missense_I274T,Missense_I218T exm665830 7 142983193 [T/G] NM_001242776,NM_153345,NM_001242775,NM_001242773,NM_001242774,NR_040003,NM_001242777 TMEM139,TMEM139,TMEM139,TMEM139,TMEM139,TMEM139,TMEM139 EXON Silent,Missense_F48C,Missense_F48C,Missense_F48C,Missense_F48C,Silent,Silent exm2141796 7 142983294 [T/C] NM_001242776,NM_153345,NM_001242775,NM_001242773,NM_001242774,NR_040003,NM_001242777 TMEM139,TMEM139,TMEM139,TMEM139,TMEM139,TMEM139,TMEM139 EXON Silent,Missense_R82W,Missense_R82W,Missense_R82W,Missense_R82W,Silent,Silent exm665837 7 142983295 [A/G] NM_001242776,NM_153345,NM_001242775,NM_001242773,NM_001242774,NR_040003,NM_001242777 TMEM139,TMEM139,TMEM139,TMEM139,TMEM139,TMEM139,TMEM139 EXON Silent,Missense_R82Q,Missense_R82Q,Missense_R82Q,Missense_R82Q,Silent,Silent exm665842 7 142983681 [A/C] NM_001242776,NM_153345,NM_001242775,NM_001242773,NM_001242774,NR_040003,NM_001242777 TMEM139,TMEM139,TMEM139,TMEM139,TMEM139,TMEM139,TMEM139 EXON Silent,Missense_A137D,Missense_A137D,Missense_A137D,Missense_A137D,Silent,Silent exm665844 7 142983699 [A/G] NM_001242776,NM_153345,NM_001242775,NM_001242773,NM_001242774,NR_040003,NM_001242777 TMEM139,TMEM139,TMEM139,TMEM139,TMEM139,TMEM139,TMEM139 EXON Silent,Missense_R143Q,Missense_R143Q,Missense_R143Q,Missense_R143Q,Silent,Silent exm665849 7 142983735 [A/G] NM_001242776,NM_153345,NM_001242775,NM_001242773,NM_001242774,NR_040003,NM_001242777 TMEM139,TMEM139,TMEM139,TMEM139,TMEM139,TMEM139,TMEM139 EXON Missense_S12N,Missense_S155N,Missense_S155N,Missense_S155N,Missense_S155N,Silent,Missense_S12N exm2258178 7 142983743 [A/G] NM_001242776,NM_153345,NM_001242775,NM_001242773,NM_001242774,NR_040003,NM_001242777 TMEM139,TMEM139,TMEM139,TMEM139,TMEM139,TMEM139,TMEM139 EXON Missense_R15G,Missense_R158G,Missense_R158G,Missense_R158G,Missense_R158G,Silent,Missense_R15G exm665853 7 142983834 [T/C] NM_001242776,NM_153345,NM_001242775,NM_001242773,NM_001242774,NR_040003,NM_001242777 TMEM139,TMEM139,TMEM139,TMEM139,TMEM139,TMEM139,TMEM139 EXON Missense_P45L,Missense_P188L,Missense_P188L,Missense_P188L,Missense_P188L,Silent,Missense_P45L exm665861 7 142985603 [A/G] NM_032982,NM_032983 CASP2,CASP2 EXON Missense_A19T,Missense_A19T exm665880 7 142989560 [A/G] NM_032982,NM_032983,NM_001224 CASP2,CASP2,CASP2 EXON Synonymous_P131P,Silent,Synonymous_P100P exm665885 7 142989780 [A/G] NM_032982,NM_032983,NM_001224 CASP2,CASP2,CASP2 EXON Missense_R155H,Silent,Missense_R124H exm665890 7 142991361 [G/C] NM_032982,NM_032983,NM_001224 CASP2,CASP2,CASP2 EXON Missense_V172L,Silent,Missense_V141L exm665891 7 142991379 [C/G] NM_032982,NM_032983,NM_001224 CASP2,CASP2,CASP2 EXON Missense_P178A,Missense_A105G,Missense_P147A exm665900 7 142991837 [A/G] NM_032982,NM_032983,NM_001224 CASP2,CASP2,CASP2 EXON Missense_V240I,Silent,Missense_V209I exm2258179 7 142997030 [A/G] NM_032982,NM_032983,NM_001224 CASP2,CASP2,CASP2 EXON Synonymous_K254K,Silent,Synonymous_K223K exm665906 7 142997061 [G/C] NM_032982,NM_032983,NM_001224 CASP2,CASP2,CASP2 EXON Missense_R265G,Silent,Missense_R234G exm2141823 7 143001811 [A/G] NM_032982,NM_032983,NM_001224 CASP2,CASP2,CASP2 EXON Missense_E388K,Silent,Silent exm665949 7 143013391 [A/C] NR_046453,NM_000083 CLCN1,CLCN1 EXON Silent,Missense_H29P exm665967 7 143017768 [T/C] NR_046453,NM_000083 CLCN1,CLCN1 EXON Silent,Missense_R105C exm665969 7 143017771 [G/C] NR_046453,NM_000083 CLCN1,CLCN1 EXON Silent,Missense_L106V exm665970 7 143017807 [T/G] NR_046453,NM_000083 CLCN1,CLCN1 EXON Silent,Missense_G118W exm665978 7 143018485 [A/G] NR_046453,NM_000083 CLCN1,CLCN1 EXON Silent,Missense_Q154R exm666003 7 143027865 [A/G] NR_046453,NM_000083 CLCN1,CLCN1 EXON Silent,Missense_G285E exm666005 7 143027910 [A/G] NR_046453,NM_000083 CLCN1,CLCN1 EXON Silent,Missense_R300Q exm666007 7 143027931 [T/C] NR_046453,NM_000083 CLCN1,CLCN1 EXON Silent,Missense_F307S exm666024 7 143029550 [T/C] NR_046453,NM_000083 CLCN1,CLCN1 EXON Silent,Missense_A402V exm666026 7 143029583 [T/G] NR_046453,NM_000083 CLCN1,CLCN1 EXON Silent,Missense_F413C exm666028 7 143029874 [A/G] NR_046453,NM_000083 CLCN1,CLCN1 EXON Silent,Missense_A437T exm666040 7 143036397 [A/G] NR_046453,NM_000083 CLCN1,CLCN1 EXON Silent,Missense_M485V exm666043 7 143036612 [T/C] NR_046453,NM_000083 CLCN1,CLCN1 EXON Silent,Missense_F494L exm666063 7 143042673 [T/C] NR_046453,NM_000083 CLCN1,CLCN1 EXON Silent,Missense_H664Y exm666074 7 143043240 [T/C] NR_046453,NM_000083 CLCN1,CLCN1 EXON Silent,Missense_P727L exm2141882 7 143043267 [T/C] NR_046453,NM_000083 CLCN1,CLCN1 EXON Silent,Missense_T736I exm666079 7 143043318 [A/C] NR_046453,NM_000083 CLCN1,CLCN1 EXON Silent,Missense_Q753P exm2141886 7 143043750 [A/C] NR_046453,NM_000083 CLCN1,CLCN1 EXON Silent,Missense_Q788P exm666101 7 143047697 [A/G] NR_046453,NM_000083 CLCN1,CLCN1 EXON Silent,Missense_A849T exm666107 7 143048771 [T/C] NR_046453,NM_000083 CLCN1,CLCN1 EXON Silent,Nonsense_R894X exm666115 7 143048886 [T/C] NR_046453,NM_000083 CLCN1,CLCN1 EXON Silent,Missense_P932L exm666116 7 143048925 [T/G] NR_046453,NM_000083 CLCN1,CLCN1 EXON Silent,Missense_G945V exm666119 7 143048955 [T/A] NR_046453,NM_000083 CLCN1,CLCN1 EXON Silent,Missense_E955V exm666122 7 143049017 [T/C] NR_046453,NM_000083 CLCN1,CLCN1 EXON Silent,Nonsense_R976X exm666127 7 143053713 [T/C] NM_014690,NM_001031690 FAM131B,FAM131B EXON Missense_R310Q,Missense_R338Q exm666128 7 143053723 [T/C] NM_014690,NM_001031690 FAM131B,FAM131B EXON Missense_A307T,Missense_A335T exm2141903 7 143054020 [T/C] NM_014690,NM_001031690 FAM131B,FAM131B EXON Missense_D208N,Missense_D236N exm666144 7 143054028 [T/C] NM_014690,NM_001031690 FAM131B,FAM131B EXON Missense_E205G,Missense_E233G exm2141913 7 143056458 [T/C] NM_014690,NM_001031690 FAM131B,FAM131B EXON Missense_A49T,Missense_A77T exm666201 7 143079922 [T/G] NM_001010972,NM_003461 ZYX,ZYX EXON Missense_V177G,Missense_V177G exm666204 7 143079970 [A/G] NM_001010972,NM_003461 ZYX,ZYX EXON Missense_G193D,Missense_G193D exm666207 7 143080030 [T/C] NM_001010972,NM_003461 ZYX,ZYX EXON Missense_P213L,Missense_P213L exm666209 7 143080060 [T/A] NM_001010972,NM_003461 ZYX,ZYX EXON Missense_H223L,Missense_H223L exm666210 7 143080092 [G/C] NM_001010972,NM_003461 ZYX,ZYX EXON Missense_V234L,Missense_V234L exm666211 7 143080098 [A/C] NM_001010972,NM_003461 ZYX,ZYX EXON Missense_L236I,Missense_L236I exm666217 7 143080189 [T/C] NM_001010972,NM_003461 ZYX,ZYX EXON Missense_F266S,Missense_F266S exm666223 7 143080305 [A/G] NM_001010972,NM_003461 ZYX,ZYX EXON Missense_G305S,Missense_G305S exm666225 7 143080323 [A/C] NM_001010972,NM_003461 ZYX,ZYX EXON Missense_P311T,Missense_P311T exm666227 7 143080358 [T/G] NM_001010972,NM_003461 ZYX,ZYX EXON Missense_K322N,Missense_K322N exm666239 7 143085431 [T/C] NM_001010972,NM_003461 ZYX,ZYX EXON Synonymous_N381N,Synonymous_N381N exm666248 7 143085684 [T/C] NM_001010972,NM_003461 ZYX,ZYX EXON Missense_A416V,Missense_A416V exm666249 7 143085695 [A/C] NM_001010972,NM_003461 ZYX,ZYX EXON Missense_Q420K,Missense_Q420K exm666263 7 143085968 [T/C] NM_001010972,NM_003461 ZYX,ZYX EXON Missense_R475C,Missense_R475C exm666268 7 143086010 [T/C] NM_001010972,NM_003461 ZYX,ZYX EXON Missense_R489W,Missense_R489W exm666274 7 143087017 [C/G] NM_001010972,NM_003461 ZYX,ZYX EXON Missense_V521L,Missense_V521L exm666284 7 143087744 [A/G] NM_001010972,NM_003461 ZYX,ZYX EXON Missense_R563Q,Missense_R563Q exm666290 7 143088576 [A/G] NM_005232 EPHA1 EXON Missense_C969R exm666292 7 143088584 [T/C] NM_005232 EPHA1 EXON Missense_R966H exm666296 7 143088605 [A/G] NM_005232 EPHA1 EXON Missense_T959I exm666305 7 143088779 [T/C] NM_005232 EPHA1 EXON Missense_R929H exm666311 7 143088857 [T/C] NM_005232 EPHA1 EXON Missense_R903H exm666312 7 143088867 [T/C] NM_005232 EPHA1 EXON Missense_M900V exm666326 7 143091417 [T/C] NM_005232 EPHA1 EXON Missense_R791H exm666331 7 143091929 [T/C] NM_005232 EPHA1 EXON Missense_D775G exm666334 7 143091962 [T/G] NM_005232 EPHA1 EXON Missense_K764T exm666345 7 143092107 [T/C] NM_005232 EPHA1 EXON Missense_E716K exm666348 7 143092269 [A/G] NM_005232 EPHA1 EXON Missense_P697L exm666350 7 143092424 [T/C] NM_005232 EPHA1 EXON Missense_V691I exm666354 7 143092447 [A/G] NM_005232 EPHA1 EXON Missense_P683L exm666355 7 143092448 [T/G] NM_005232 EPHA1 EXON Missense_P683T exm666380 7 143094661 [A/G] NM_005232 EPHA1 EXON Missense_R569W exm666382 7 143094693 [C/G] NM_005232 EPHA1 EXON Missense_G558A exm666393 7 143095153 [T/C] NM_005232 EPHA1 EXON Missense_R492Q exm666396 7 143095425 [T/C] NM_005232 EPHA1 EXON Missense_V485M exm666400 7 143095455 [A/G] NM_005232 EPHA1 EXON Missense_P475S exm666401 7 143095460 [T/C] NM_005232 EPHA1 EXON Missense_R473Q exm666402 7 143095461 [A/G] NM_005232 EPHA1 EXON Nonsense_R473X exm666403 7 143095466 [T/C] NM_005232 EPHA1 EXON Missense_R471Q exm666404 7 143095467 [A/G] NM_005232 EPHA1 EXON Missense_R471W exm666412 7 143095840 [T/C] NM_005232 EPHA1 EXON Missense_R397Q exm666416 7 143095849 [A/G] NM_005232 EPHA1 EXON Missense_P394L exm666422 7 143095907 [T/C] NM_005232 EPHA1 EXON Missense_G375S exm666428 7 143095979 [A/G] NM_005232 EPHA1 EXON Missense_R351C exm666431 7 143096020 [T/C] NM_005232 EPHA1 EXON Missense_R337Q exm2258180 7 143096034 [T/G] NM_005232 EPHA1 EXON Synonymous_P332P exm666438 7 143096419 [A/G] NM_005232 EPHA1 EXON Missense_A308V exm666439 7 143096475 [T/C] NM_005232 EPHA1 EXON Missense_M289I exm666444 7 143096798 [A/G] NM_005232 EPHA1 EXON Missense_R261W exm666446 7 143096809 [A/C] NM_005232 EPHA1 EXON Missense_V257G exm666462 7 143097046 [T/C] NM_005232 EPHA1 EXON Missense_R178H exm666467 7 143097089 [T/C] NM_005232 EPHA1 EXON Missense_V164M exm666468 7 143097100 [A/G] NM_005232 EPHA1 EXON Missense_V160A exm666469 7 143097110 [A/G] NM_005232 EPHA1 EXON Nonsense_R157X exm2142019 7 143098436 [T/C] NM_005232 EPHA1 EXON Missense_R138Q exm666480 7 143098554 [T/G] NM_005232 EPHA1 EXON Missense_L99M exm666483 7 143098568 [T/C] NM_005232 EPHA1 EXON Missense_R94H exm666484 7 143098584 [T/C] NM_005232 EPHA1 EXON Missense_G89R exm666485 7 143098598 [T/C] NM_005232 EPHA1 EXON Missense_N84S exm666487 7 143098636 [A/C] NM_005232 EPHA1 EXON Missense_M71I exm666489 7 143098665 [T/G] NM_005232 EPHA1 EXON Missense_P62T exm-rs11767557 7 143109139 [T/C] NR_033897 EPHA1-AS1 Silent exm2266485 7 143110762 [A/G] NR_033897 EPHA1-AS1 Silent exm666497 7 143140577 [T/C] NR_033897,NM_177437 EPHA1-AS1,TAS2R60 EXON Silent,Missense_S11L exm666499 7 143140633 [T/G] NR_033897,NM_177437 EPHA1-AS1,TAS2R60 EXON Silent,Missense_V30L exm666501 7 143140675 [A/G] NR_033897,NM_177437 EPHA1-AS1,TAS2R60 EXON Silent,Missense_V44M exm666507 7 143140790 [T/G] NR_033897,NM_177437 EPHA1-AS1,TAS2R60 EXON Silent,Missense_L82W exm666508 7 143140796 [T/C] NR_033897,NM_177437 EPHA1-AS1,TAS2R60 EXON Silent,Missense_P84L exm666518 7 143141109 [C/G] NR_033897,NM_177437 EPHA1-AS1,TAS2R60 EXON Silent,Nonsense_Y188X exm2142033 7 143141125 [T/C] NR_033897,NM_177437 EPHA1-AS1,TAS2R60 EXON Silent,Missense_L194F exm666522 7 143141204 [T/C] NR_033897,NM_177437 EPHA1-AS1,TAS2R60 EXON Silent,Missense_L220P exm666525 7 143141230 [A/C] NR_033897,NM_177437 EPHA1-AS1,TAS2R60 EXON Silent,Missense_L229I exm666541 7 143175188 [A/G] NR_033897,NM_176883 EPHA1-AS1,TAS2R41 EXON Silent,Missense_E75K exm666544 7 143175210 [A/G] NR_033897,NM_176883 EPHA1-AS1,TAS2R41 EXON Silent,Missense_R82Q exm666545 7 143175232 [A/G] NR_033897,NM_176883 EPHA1-AS1,TAS2R41 EXON Silent,Nonsense_W89X exm666547 7 143175345 [T/C] NR_033897,NM_176883 EPHA1-AS1,TAS2R41 EXON Silent,Missense_P127L exm666552 7 143175378 [A/T] NR_033897,NM_176883 EPHA1-AS1,TAS2R41 EXON Silent,Missense_V138D exm666554 7 143175497 [A/G] NR_033897,NM_176883 EPHA1-AS1,TAS2R41 EXON Silent,Missense_T178A exm666559 7 143175549 [T/A] NR_033897,NM_176883 EPHA1-AS1,TAS2R41 EXON Silent,Missense_V195D exm666564 7 143175669 [A/C] NR_033897,NM_176883 EPHA1-AS1,TAS2R41 EXON Silent,Missense_S235Y exm2142046 7 143175687 [T/G] NR_033897,NM_176883 EPHA1-AS1,TAS2R41 EXON Silent,Missense_I241S exm666566 7 143175689 [T/C] NR_033897,NM_176883 EPHA1-AS1,TAS2R41 EXON Silent,Missense_L242F exm666569 7 143175776 [A/G] NR_033897,NM_176883 EPHA1-AS1,TAS2R41 EXON Silent,Missense_A271T exm2264270 7 143192996 [A/C] NR_033897 EPHA1-AS1 Silent exm2245166 7 143573301 [A/G] NM_001206941,NM_001206938,NM_014719 FAM115A,FAM115A,FAM115A EXON Silent,Missense_M134T,Missense_M134T exm666737 7 143573379 [T/G] NM_001206941,NM_001206938,NM_014719 FAM115A,FAM115A,FAM115A EXON Silent,Missense_S108Y,Missense_S108Y exm666739 7 143573457 [T/C] NM_001206941,NM_001206938,NM_014719 FAM115A,FAM115A,FAM115A EXON Silent,Missense_G82E,Missense_G82E exm666740 7 143573464 [T/C] NM_001206941,NM_001206938,NM_014719 FAM115A,FAM115A,FAM115A EXON Silent,Missense_A80T,Missense_A80T exm666742 7 143573518 [T/C] NM_001206941,NM_001206938,NM_014719 FAM115A,FAM115A,FAM115A EXON Silent,Missense_V62M,Missense_V62M exm666776 7 143632833 [A/G] NM_001004685 OR2F2 EXON Missense_T170A exm666783 7 143632983 [T/C] NM_001004685 OR2F2 EXON Missense_R220W exm666786 7 143633044 [T/C] NM_001004685 OR2F2 EXON Missense_T240M exm666789 7 143633157 [T/C] NM_001004685 OR2F2 EXON Missense_Y278H exm666794 7 143633221 [A/G] NM_001004685 OR2F2 EXON Missense_G299E exm666798 7 143657104 [T/C] NM_012369 OR2F1 EXON Missense_L14P exm666801 7 143657178 [A/G] NM_012369 OR2F1 EXON Missense_V39M exm666808 7 143657427 [T/C] NM_012369 OR2F1 EXON Missense_R122C exm666809 7 143657428 [A/G] NM_012369 OR2F1 EXON Missense_R122H exm666810 7 143657437 [T/C] NM_012369 OR2F1 EXON Missense_A125V exm666815 7 143657473 [A/G] NM_012369 OR2F1 EXON Missense_H137R exm666818 7 143657535 [A/G] NM_012369 OR2F1 EXON Missense_V158M exm666820 7 143657547 [A/G] NM_012369 OR2F1 EXON Missense_I162V exm666823 7 143657573 [T/A] NM_012369 OR2F1 EXON Missense_R170S exm666825 7 143657635 [A/G] NM_012369 OR2F1 EXON Missense_D191G exm666826 7 143657647 [A/G] NM_012369 OR2F1 EXON Missense_N195S exm666827 7 143657661 [A/G] NM_012369 OR2F1 EXON Missense_M200V exm666845 7 143657920 [A/G] NM_012369 OR2F1 EXON Missense_N286S exm666852 7 143701162 [A/G] NM_001005281 OR6B1 EXON Missense_A25T exm666855 7 143701389 [A/T] NM_001005281 OR6B1 EXON Missense_Q100H exm666859 7 143701438 [A/G] NM_001005281 OR6B1 EXON Missense_A117T exm666862 7 143701471 [T/C] NM_001005281 OR6B1 EXON Missense_R128C exm666863 7 143701516 [T/C] NM_001005281 OR6B1 EXON Missense_R143C exm666865 7 143701522 [A/G] NM_001005281 OR6B1 EXON Missense_A145T exm666866 7 143701540 [A/G] NM_001005281 OR6B1 EXON Missense_I151V exm2142099 7 143701576 [A/C] NM_001005281 OR6B1 EXON Missense_I163L exm666870 7 143701640 [T/C] NM_001005281 OR6B1 EXON Missense_V184A exm666873 7 143701726 [A/G] NM_001005281 OR6B1 EXON Missense_I213V exm666877 7 143701855 [A/C] NM_001005281 OR6B1 EXON Missense_M256L exm666878 7 143701865 [A/G] NM_001005281 OR6B1 EXON Missense_R259Q exm666887 7 143702008 [T/G] NM_001005281 OR6B1 EXON Missense_A307S exm2142103 7 143702011 [A/C] NM_001005281 OR6B1 EXON Missense_S308R exm2270708 7 143716265 [T/C] exm666889 7 143747497 [A/G] NM_012365 OR2A5 EXON Missense_M1I exm666891 7 143747524 [T/A] NM_012365 OR2A5 EXON Missense_E10D exm666901 7 143747667 [T/C] NM_012365 OR2A5 EXON Missense_M58T exm666909 7 143747796 [A/C] NM_012365 OR2A5 EXON Missense_T101N exm666910 7 143747799 [T/C] NM_012365 OR2A5 EXON Missense_F102S exm666913 7 143747855 [A/G] NM_012365 OR2A5 EXON Missense_D121N exm666916 7 143747870 [A/G] NM_012365 OR2A5 EXON Missense_I126V exm666917 7 143747916 [A/G] NM_012365 OR2A5 EXON Missense_C141Y exm666921 7 143748011 [A/G] NM_012365 OR2A5 EXON Missense_E173K exm666927 7 143748098 [T/G] NM_012365 OR2A5 EXON Missense_A202S exm666951 7 143748430 [A/G] NM_012365 OR2A5 EXON Missense_X312W exm666952 7 143771317 [C/G] NM_001004488 OR2A25 EXON Missense_G2A exm666957 7 143771374 [A/G] NM_001004488 OR2A25 EXON Missense_R21K exm2277339 7 143771380 [A/G] NM_001004488 OR2A25 EXON Missense_Q23R exm666962 7 143771429 [T/G] NM_001004488 OR2A25 EXON Missense_L39F exm666964 7 143771449 [G/C] NM_001004488 OR2A25 EXON Missense_G46A exm666973 7 143771635 [A/G] NM_001004488 OR2A25 EXON Missense_H108R exm2245175 7 143771829 [G/C] NM_001004488 OR2A25 EXON Missense_L173V exm666989 7 143771934 [A/G] NM_001004488 OR2A25 EXON Missense_G208R exm666990 7 143771937 [C/G] NM_001004488 OR2A25 EXON Missense_A209P exm667014 7 143792472 [A/T] NM_001004135 OR2A12 EXON Missense_I91N exm667018 7 143792647 [A/G] NM_001004135 OR2A12 EXON Missense_I149M exm2142130 7 143792742 [T/C] NM_001004135 OR2A12 EXON Missense_M181T exm2142131 7 143792747 [A/G] NM_001004135 OR2A12 EXON Missense_V183I exm667025 7 143792867 [A/G] NM_001004135 OR2A12 EXON Missense_A223T exm667031 7 143792991 [A/G] NM_001004135 OR2A12 EXON Missense_S264N exm667034 7 143793035 [T/C] NM_001004135 OR2A12 EXON Missense_L279F exm667040 7 143806688 [A/C] NM_001005480 OR2A2 EXON Missense_Q5K exm667054 7 143806940 [A/G] NM_001005480 OR2A2 EXON Missense_R89G exm2142141 7 143806947 [T/C] NM_001005480 OR2A2 EXON Missense_I91T exm667066 7 143807112 [C/G] NM_001005480 OR2A2 EXON Missense_T146R exm667074 7 143807304 [T/C] NM_001005480 OR2A2 EXON Missense_L210P exm667080 7 143807454 [A/T] NM_001005480 OR2A2 EXON Missense_V260D exm667096 7 143826248 [T/C] NM_001001659 OR2A14 EXON Nonsense_R15X exm667106 7 143826431 [T/C] NM_001001659 OR2A14 EXON Missense_Y76H exm667111 7 143826530 [A/G] NM_001001659 OR2A14 EXON Missense_V109I exm667116 7 143826587 [C/G] NM_001001659 OR2A14 EXON Missense_P128A exm667117 7 143826603 [T/G] NM_001001659 OR2A14 EXON Missense_S133I exm667119 7 143826678 [A/C] NM_001001659 OR2A14 EXON Missense_P158H exm667145 7 143826971 [T/G] NM_001001659 OR2A14 EXON Missense_V256F exm667148 7 143826980 [A/G] NM_001001659 OR2A14 EXON Missense_M259V exm667157 7 143827134 [T/C] NM_001001659 OR2A14 EXON Missense_T310M exm2276790 7 144075958 [C/G] NM_005435 ARHGEF5 EXON Missense_D1545E exm667383 7 144077138 [A/C] NM_005435 ARHGEF5 EXON Missense_Q1595K exm667386 7 144094418 [T/C] NM_001080413 NOBOX EXON Missense_K664R exm667390 7 144094560 [A/G] NM_001080413 NOBOX EXON Missense_H617Y exm667392 7 144094613 [T/G] NM_001080413 NOBOX EXON Missense_P599H exm667398 7 144095600 [A/G] NM_001080413 NOBOX EXON Missense_F517L exm667404 7 144096068 [T/C] NM_001080413 NOBOX EXON Missense_G482S exm667408 7 144096082 [G/C] NM_001080413 NOBOX EXON Missense_S477T exm667424 7 144096892 [T/G] NM_001080413 NOBOX EXON Missense_K371T exm667427 7 144097204 [G/C] NM_001080413 NOBOX EXON Missense_W349S exm667428 7 144097213 [A/G] NM_001080413 NOBOX EXON Missense_A346V exm667433 7 144097306 [T/C] NM_001080413 NOBOX EXON Missense_R315H exm667444 7 144098303 [T/C] NM_001080413 NOBOX EXON Missense_R227H exm667455 7 144098529 [T/C] NM_001080413 NOBOX EXON Missense_G152R exm667457 7 144098621 [A/G] NM_001080413 NOBOX EXON Missense_P121L exm667458 7 144098634 [A/G] NM_001080413 NOBOX EXON Missense_R117W exm667461 7 144098983 [A/C] NM_001080413 NOBOX EXON Missense_G91W exm667462 7 144098989 [A/C] NM_001080413 NOBOX EXON Missense_V89L exm667470 7 144101728 [A/C] NM_001080413 NOBOX EXON Missense_R44L exm-rs886469 7 144152054 [T/C] NM_001042482,NM_022445 TPK1,TPK1 Silent,Silent exm2270709 7 144277770 [T/G] NM_001042482,NM_022445 TPK1,TPK1 Silent,Silent exm2262259 7 144321911 [T/C] NM_001042482,NM_022445 TPK1,TPK1 Silent,Silent exm-IND7-143995810 7 144364878 [I/D] NM_001042482,NM_022445 TPK1,TPK1 exm667511 7 144462990 [T/C] NM_001042482,NM_022445 TPK1,TPK1 EXON Missense_R33H,Missense_R33H exm2266486 7 144672571 [A/G] exm-rs10487524 7 144841531 [A/G] exm-rs12531488 7 144892086 [T/C] exm-rs12669573 7 145193978 [T/C] exm2266487 7 145813854 [A/G] NM_014141 CNTNAP2 EXON Silent exm667551 7 145814041 [A/G] NM_014141 CNTNAP2 EXON Missense_A25T exm-rs802568 7 145959243 [T/G] NM_014141 CNTNAP2 Silent exm2266575 7 146020936 [A/G] NM_014141 CNTNAP2 Silent exm-rs7799181 7 146048830 [A/G] NM_014141 CNTNAP2 Silent exm2270710 7 146226582 [T/G] NM_014141 CNTNAP2 Silent exm2262262 7 146401434 [A/G] NM_014141 CNTNAP2 Silent exm667554 7 146471401 [A/G] NM_014141 CNTNAP2 EXON Missense_V46M exm2142306 7 146536935 [A/G] NM_014141 CNTNAP2 EXON Missense_R114Q exm667568 7 146536994 [T/G] NM_014141 CNTNAP2 EXON Missense_W134G exm667571 7 146741075 [A/G] NM_014141 CNTNAP2 EXON Missense_R160H exm667573 7 146741111 [T/C] NM_014141 CNTNAP2 EXON Missense_I172T exm2266488 7 146751925 [A/G] NM_014141 CNTNAP2 Silent exm667585 7 146818170 [C/G] NM_014141 CNTNAP2 EXON Missense_G285A exm667596 7 146825928 [A/G] NM_014141 CNTNAP2 EXON Synonymous_V361V exm667606 7 146829473 [A/G] NM_014141 CNTNAP2 EXON Missense_N407S exm667607 7 146829500 [T/C] NM_014141 CNTNAP2 EXON Missense_A416V exm667620 7 146997364 [A/G] NM_014141,NR_031690 CNTNAP2,MIR548I4 EXON Missense_E494K,Silent exm667642 7 147183121 [A/C] NM_014141,NR_031690 CNTNAP2,MIR548I4 EXON Missense_T589P,Silent exm2266489 7 147242624 [A/G] NM_014141,NR_031690 CNTNAP2,MIR548I4 Silent,Silent exm667644 7 147259238 [A/G] NM_014141 CNTNAP2 EXON Missense_E596K exm667647 7 147259310 [A/G] NM_014141 CNTNAP2 EXON Missense_G620R exm2266577 7 147356098 [A/G] NM_014141 CNTNAP2 Silent exm667660 7 147600681 [T/C] NM_014141,NR_031644 CNTNAP2,MIR548F3 EXON Missense_V708A,Silent exm667667 7 147600763 [A/C] NM_014141,NR_031644 CNTNAP2,MIR548F3 EXON Missense_N735K,Silent exm667669 7 147600797 [A/G] NM_014141,NR_031644 CNTNAP2,MIR548F3 EXON Missense_A747T,Silent exm2270800 7 147655743 [T/C] NM_014141,NR_031644,NR_036093 CNTNAP2,MIR548F3,MIR548T Silent,Silent,Silent exm2245188 7 147674986 [A/G] NM_014141,NR_031644,NR_036093 CNTNAP2,MIR548F3,MIR548T EXON Missense_D763G,Silent,Silent exm2277340 7 147675054 [T/G] NM_014141,NR_031644,NR_036093 CNTNAP2,MIR548F3,MIR548T EXON Missense_V786L,Silent,Silent exm2142390 7 147675066 [A/C] NM_014141,NR_031644,NR_036093 CNTNAP2,MIR548F3,MIR548T EXON Missense_R790S,Silent,Silent exm667678 7 147675067 [A/G] NM_014141,NR_031644,NR_036093 CNTNAP2,MIR548F3,MIR548T EXON Missense_R790H,Silent,Silent exm667681 7 147815275 [A/G] NM_014141,NR_036093 CNTNAP2,MIR548T EXON Missense_G817R,Silent exm667689 7 147844637 [T/C] NM_014141,NR_036093 CNTNAP2,MIR548T EXON Missense_V870A,Silent exm2142415 7 147844733 [T/C] NM_014141,NR_036093 CNTNAP2,MIR548T EXON Missense_P902L,Silent exm667700 7 147869515 [A/C] NM_014141,NR_036093 CNTNAP2,MIR548T EXON Missense_H985Q,Silent exm2270711 7 147908658 [T/C] NM_014141,NR_036093 CNTNAP2,MIR548T Silent,Silent exm667708 7 147914481 [A/G] NM_014141,NR_036093 CNTNAP2,MIR548T EXON Missense_D1038N,Silent exm667716 7 147914562 [A/C] NM_014141,NR_036093 CNTNAP2,MIR548T EXON Missense_L1065I,Silent exm667720 7 147926795 [T/C] NM_014141,NR_036093 CNTNAP2,MIR548T EXON Missense_V1102A,Silent exm667763 7 148112574 [T/C] NM_014141 CNTNAP2 EXON Missense_R1288C exm667766 7 148112631 [A/G] NM_014141 CNTNAP2 EXON Missense_A1307T exm667767 7 148112632 [T/C] NM_014141 CNTNAP2 EXON Missense_A1307V exm667769 7 148112662 [A/G] NM_014141 CNTNAP2 EXON Missense_N1317S exm667770 7 148112680 [A/C] NM_014141 CNTNAP2 EXON Missense_D1323A exm2270712 7 148164406 [T/C] exm667778 7 148288020 [T/G] NM_145304 C7orf33 EXON Missense_M1I exm667780 7 148288054 [T/C] NM_145304 C7orf33 EXON Missense_C13R exm667787 7 148288203 [A/T] NM_145304 C7orf33 EXON Nonsense_Y62X exm667793 7 148311240 [T/C] NM_145304 C7orf33 EXON Missense_T104M exm667798 7 148311366 [T/C] NM_145304 C7orf33 EXON Missense_T146I exm667802 7 148311389 [A/G] NM_145304 C7orf33 Silent exm667805 7 148312423 [A/G] NM_145304 C7orf33 EXON Missense_R155H exm667818 7 148456729 [T/C] NM_003592 CUL1 EXON Synonymous_Y208Y exm667876 7 148507426 [A/G] NM_001203248,NM_001203249,NM_001203247,NM_004456,NM_152998 EZH2,EZH2,EZH2,EZH2,EZH2 EXON Synonymous_N662N,Synonymous_N620N,Synonymous_N671N,Synonymous_N676N,Synonymous_N632N exm667889 7 148511116 [T/C] NM_001203248,NM_001203249,NM_001203247,NM_004456,NM_152998 EZH2,EZH2,EZH2,EZH2,EZH2 EXON Missense_A582T,Missense_A540T,Missense_A591T,Missense_A596T,Missense_A552T exm667911 7 148516722 [T/C] NM_001203248,NM_001203249,NM_001203247,NM_004456,NM_152998 EZH2,EZH2,EZH2,EZH2,EZH2 EXON Missense_N308S,Missense_N308S,Missense_N317S,Missense_N322S,Missense_N278S exm667929 7 148525904 [G/C] NM_001203248,NM_001203249,NM_001203247,NM_004456,NM_152998 EZH2,EZH2,EZH2,EZH2,EZH2 EXON Missense_D176H,Missense_D176H,Missense_D185H,Missense_D185H,Missense_D146H exm667939 7 148543643 [C/G] NM_001203248,NM_001203249,NM_001203247,NM_004456,NM_152998 EZH2,EZH2,EZH2,EZH2,EZH2 EXON Missense_I55M,Missense_I55M,Missense_I55M,Missense_I55M,Missense_I55M exm-rs822552 7 148650634 [G/C] exm667965 7 148701005 [T/G] NM_004911 PDIA4 EXON Missense_P607T exm667979 7 148701179 [T/C] NM_004911 PDIA4 EXON Missense_E549K exm667982 7 148701229 [T/C] NM_004911 PDIA4 EXON Missense_G532E exm667983 7 148701236 [T/C] NM_004911 PDIA4 EXON Missense_V530M exm667985 7 148701245 [T/C] NM_004911 PDIA4 EXON Missense_V527I exm667986 7 148701263 [T/C] NM_004911 PDIA4 EXON Missense_K521E exm667988 7 148702257 [T/C] NM_004911 PDIA4 EXON Missense_E500K exm667990 7 148702260 [A/G] NM_004911 PDIA4 EXON Missense_R499C exm668007 7 148702451 [T/C] NM_004911 PDIA4 EXON Missense_R435Q exm668017 7 148703121 [T/C] NM_004911 PDIA4 EXON Missense_K386E exm668027 7 148705348 [C/G] NM_004911 PDIA4 EXON Missense_A345G exm668032 7 148708938 [T/C] NM_004911 PDIA4 EXON Missense_A327T exm668033 7 148708939 [A/G] NM_004911 PDIA4 EXON Synonymous_A326A exm668035 7 148708977 [G/C] NM_004911 PDIA4 EXON Missense_G314R exm668039 7 148709067 [T/C] NM_004911 PDIA4 EXON Missense_G284R exm668052 7 148709346 [T/C] NM_004911 PDIA4 EXON Missense_T241A exm668068 7 148712092 [A/G] NM_004911 PDIA4 EXON Missense_T173M exm668069 7 148712113 [T/C] NM_004911 PDIA4 EXON Missense_E166G exm2142633 7 148716137 [T/C] NM_004911 PDIA4 EXON Missense_K141R exm668075 7 148716209 [A/G] NM_004911 PDIA4 EXON Missense_V117A exm2258199 7 148716247 [T/A] NM_004911 PDIA4 EXON Synonymous_I104I exm668077 7 148716263 [A/G] NM_004911 PDIA4 EXON Missense_P99L exm2142641 7 148718168 [G/C] NM_004911 PDIA4 EXON Missense_D54H exm668082 7 148718175 [A/C] NM_004911 PDIA4 EXON Missense_E51D exm668086 7 148718200 [T/G] NM_004911 PDIA4 EXON Missense_E43A exm2264271 7 148738938 [A/C] exm2142648 7 148767538 [T/C] NM_152411 ZNF786 EXON Missense_M776V exm668106 7 148767880 [T/C] NM_152411 ZNF786 EXON Missense_K662E exm668117 7 148768041 [A/T] NM_152411 ZNF786 EXON Missense_L608Q exm668129 7 148768368 [T/C] NM_152411 ZNF786 EXON Missense_H499R exm668137 7 148768543 [T/C] NM_152411 ZNF786 EXON Missense_T441A exm668140 7 148768570 [T/C] NM_152411 ZNF786 EXON Missense_K432E exm668145 7 148768644 [T/C] NM_152411 ZNF786 EXON Missense_R407H exm668146 7 148768650 [T/C] NM_152411 ZNF786 EXON Missense_R405H exm668154 7 148768978 [T/C] NM_152411 ZNF786 EXON Missense_A296T exm668158 7 148769014 [G/C] NM_152411 ZNF786 EXON Missense_P284A exm668174 7 148769428 [T/C] NM_152411 ZNF786 EXON Missense_A146T exm668178 7 148771516 [A/G] NM_152411 ZNF786 EXON Missense_M87T exm668186 7 148800715 [A/G] NM_001001661 ZNF425 EXON Missense_S750P exm668187 7 148800816 [T/G] NM_001001661 ZNF425 EXON Missense_H716P exm668195 7 148801033 [C/G] NM_001001661 ZNF425 EXON Missense_G644R exm668197 7 148801038 [A/G] NM_001001661 ZNF425 EXON Missense_M642T exm2258201 7 148801091 [A/G] NM_001001661 ZNF425 EXON Synonymous_N624N exm668204 7 148801170 [A/G] NM_001001661 ZNF425 EXON Missense_T598I exm668206 7 148801198 [T/C] NM_001001661 ZNF425 EXON Missense_K589E exm668217 7 148801358 [G/C] NM_001001661 ZNF425 EXON Missense_F535L exm668221 7 148801378 [T/C] NM_001001661 ZNF425 EXON Missense_A529T exm668226 7 148801465 [A/G] NM_001001661 ZNF425 EXON Missense_C500R exm668231 7 148801606 [T/A] NM_001001661 ZNF425 EXON Missense_W453R exm668248 7 148801971 [T/C] NM_001001661 ZNF425 EXON Missense_Q331R exm668253 7 148802095 [T/G] NM_001001661 ZNF425 EXON Missense_K290Q exm668257 7 148802121 [T/G] NM_001001661 ZNF425 EXON Missense_K281T exm668259 7 148802201 [T/G] NM_001001661 ZNF425 EXON Missense_S254R exm668262 7 148802334 [T/C] NM_001001661 ZNF425 EXON Missense_R210Q exm668263 7 148802335 [A/G] NM_001001661 ZNF425 EXON Missense_R210W exm668266 7 148802353 [T/C] NM_001001661 ZNF425 EXON Missense_D204N exm668270 7 148802466 [A/T] NM_001001661 ZNF425 EXON Missense_D166V exm668273 7 148802517 [T/C] NM_001001661 ZNF425 EXON Missense_R149Q exm668296 7 148823288 [C/G] NM_001001661 ZNF425 EXON Synonymous_S6S exm668304 7 148851037 [A/G] NM_020781,NM_170686 ZNF398,ZNF398 EXON Silent,Missense_T9A exm668318 7 148851273 [C/G] NM_020781,NM_170686 ZNF398,ZNF398 EXON Silent,Missense_E87D exm668319 7 148851304 [A/G] NM_020781,NM_170686 ZNF398,ZNF398 EXON Silent,Missense_V98M exm668325 7 148863373 [A/G] NM_020781,NM_170686 ZNF398,ZNF398 EXON Missense_M11V,Missense_M182V exm668334 7 148873662 [A/G] NM_020781,NM_170686 ZNF398,ZNF398 EXON Missense_S84N,Missense_S255N exm668335 7 148873664 [T/A] NM_020781,NM_170686 ZNF398,ZNF398 EXON Missense_T85S,Missense_T256S exm668337 7 148875740 [A/G] NM_020781,NM_170686 ZNF398,ZNF398 EXON Missense_D88G,Missense_D259G exm668342 7 148875839 [G/C] NM_020781,NM_170686 ZNF398,ZNF398 EXON Missense_A121G,Missense_A292G exm668345 7 148875896 [A/G] NM_020781,NM_170686 ZNF398,ZNF398 EXON Missense_R140H,Missense_R311H exm668348 7 148875995 [T/C] NM_020781,NM_170686 ZNF398,ZNF398 EXON Missense_S173L,Missense_S344L exm668355 7 148876129 [A/T] NM_020781,NM_170686 ZNF398,ZNF398 EXON Missense_S218T,Missense_S389T exm668371 7 148876432 [A/G] NM_020781,NM_170686 ZNF398,ZNF398 EXON Missense_I319V,Missense_I490V exm668382 7 148876687 [A/G] NM_020781,NM_170686 ZNF398,ZNF398 EXON Missense_S404G,Missense_S575G exm668386 7 148876783 [C/G] NM_020781,NM_170686 ZNF398,ZNF398 EXON Missense_P436A,Missense_P607A exm668404 7 148895510 [A/G] NM_003575 ZNF282 EXON Missense_R84H exm668418 7 148904444 [T/C] NM_003575 ZNF282 EXON Synonymous_D238D exm668419 7 148904445 [A/G] NM_003575 ZNF282 EXON Missense_A239T exm668420 7 148904511 [T/G] NM_003575 ZNF282 EXON Missense_W261G exm668421 7 148904547 [A/G] NM_003575 ZNF282 EXON Missense_M273V exm668422 7 148907686 [T/C] NM_003575 ZNF282 EXON Missense_P281L exm668429 7 148909458 [A/G] NM_003575 ZNF282 EXON Missense_I321V exm668432 7 148909524 [A/G] NM_003575 ZNF282 EXON Missense_D343N exm2258202 7 148921610 [G/C] NM_003575 ZNF282 EXON Synonymous_P629P exm2264255 7 148937136 [A/C] NM_012256 ZNF212 Silent exm668515 7 148947862 [A/G] NM_012256 ZNF212 EXON Missense_V169M exm668524 7 148949817 [A/G] NM_012256 ZNF212 EXON Missense_G188R exm668526 7 148949845 [T/C] NM_012256 ZNF212 EXON Missense_L197P exm668532 7 148950691 [A/G] NM_012256 ZNF212 EXON Missense_E225K exm668534 7 148950740 [A/G] NM_012256 ZNF212 EXON Missense_Q241R exm668543 7 148950895 [T/C] NM_012256 ZNF212 EXON Missense_H293Y exm668551 7 148951024 [T/C] NM_012256 ZNF212 EXON Missense_R336C exm2275983 7 148951025 [A/G] NM_012256 ZNF212 EXON Missense_R336H exm668562 7 148951289 [T/G] NM_012256 ZNF212 EXON Missense_R424L exm668569 7 148951401 [G/C] NM_012256 ZNF212 EXON Missense_E461D exm668572 7 148951480 [A/C] NM_012256 ZNF212 EXON Missense_P488T exm668573 7 148951481 [T/C] NM_012256 ZNF212 EXON Missense_P488L exm668581 7 148963447 [A/G] NM_001195220 ZNF783 EXON Missense_T16A exm668584 7 148963478 [T/C] NM_001195220 ZNF783 EXON Missense_P26L exm668585 7 148963481 [A/G] NM_001195220 ZNF783 EXON Missense_Q27R exm668612 7 148964254 [A/G] NM_001195220 ZNF783 EXON Missense_R205Q exm668613 7 148964275 [A/G] NM_001195220 ZNF783 EXON Missense_N212S exm668617 7 148975549 [A/C] NM_001195220 ZNF783 EXON Missense_K245Q exm668637 7 148979060 [T/C] NM_001195220 ZNF783 EXON Missense_R423C exm668646 7 148979208 [T/G] NM_001195220 ZNF783 EXON Missense_G472V exm668687 7 149129475 [T/C] NM_015694 ZNF777 EXON Missense_G630S exm668693 7 149129538 [A/G] NM_015694 ZNF777 EXON Missense_P609S exm668704 7 149129829 [T/C] NM_015694 ZNF777 EXON Missense_A512T exm668714 7 149133706 [T/G] NM_015694 ZNF777 EXON Missense_S433R exm668718 7 149133743 [A/G] NM_015694 ZNF777 EXON Missense_T421M exm668719 7 149133762 [T/C] NM_015694 ZNF777 EXON Missense_M415V exm668720 7 149133806 [T/G] NM_015694 ZNF777 EXON Missense_D400A exm668726 7 149133916 [T/C] NM_015694 ZNF777 EXON Synonymous_A363A exm668727 7 149133917 [A/G] NM_015694 ZNF777 EXON Missense_A363V exm668731 7 149148159 [T/C] NM_015694 ZNF777 EXON Missense_G340R exm668733 7 149148161 [T/C] NM_015694 ZNF777 EXON Missense_R339H exm668764 7 149152770 [A/G] NM_015694 ZNF777 EXON Missense_V115A exm668765 7 149152828 [C/G] NM_015694 ZNF777 EXON Missense_P96A exm668766 7 149152858 [T/C] NM_015694 ZNF777 EXON Missense_A86T exm668770 7 149152906 [A/G] NM_015694 ZNF777 EXON Missense_R70W exm2142818 7 149152911 [A/G] NM_015694 ZNF777 EXON Missense_S68F exm2142824 7 149171494 [A/G] NM_152557,NM_001163474 ZNF746,ZNF746 EXON Missense_T639I,Missense_T640I exm668815 7 149172161 [A/C] NM_152557,NM_001163474 ZNF746,ZNF746 EXON Missense_A417S,Missense_A418S exm668818 7 149172223 [T/C] NM_152557,NM_001163474 ZNF746,ZNF746 EXON Missense_G396E,Missense_G397E exm668842 7 149174669 [A/G] NM_152557,NM_001163474 ZNF746,ZNF746 EXON Missense_T233M,Missense_T233M exm668845 7 149174717 [T/G] NM_152557,NM_001163474 ZNF746,ZNF746 EXON Missense_E217A,Missense_E217A exm2258205 7 149174758 [A/G] NM_152557,NM_001163474 ZNF746,ZNF746 EXON Synonymous_G203G,Synonymous_G203G exm-rs855913 7 149203662 [A/C] exm668954 7 149417162 [A/G] NM_032534 KRBA1 EXON Missense_G33E exm668956 7 149417207 [G/C] NM_032534 KRBA1 EXON Missense_G48A exm668957 7 149417937 [T/C] NM_032534 KRBA1 EXON Missense_R56W exm668969 7 149418557 [A/C] NM_032534 KRBA1 EXON Missense_T133P exm668973 7 149418590 [A/G] NM_032534 KRBA1 EXON Missense_T144A exm668976 7 149418615 [T/C] NM_032534 KRBA1 EXON Missense_P152L exm668981 7 149419635 [T/G] NM_032534 KRBA1 EXON Missense_S197A exm668984 7 149419933 [A/G] NM_032534 KRBA1 EXON Missense_V220M exm668985 7 149419945 [T/C] NM_032534 KRBA1 EXON Missense_R224W exm668990 7 149419993 [A/G] NM_032534 KRBA1 EXON Missense_G240S exm669005 7 149421773 [A/G] NM_032534 KRBA1 EXON Missense_H320R exm669006 7 149421779 [T/A] NM_032534 KRBA1 EXON Missense_D322V exm669009 7 149421833 [A/G] NM_032534 KRBA1 EXON Missense_S340N exm669012 7 149422444 [A/G] NM_032534 KRBA1 EXON Missense_A389T exm669014 7 149422493 [T/C] NM_032534 KRBA1 EXON Missense_P405L exm669015 7 149422517 [T/C] NM_032534 KRBA1 EXON Missense_P413L exm669033 7 149426390 [T/C] NM_032534 KRBA1 EXON Missense_P580L exm669034 7 149427247 [T/C] NM_032534 KRBA1 EXON Missense_P607L exm669035 7 149427277 [T/C] NM_032534 KRBA1 EXON Missense_A617V exm2245206 7 149427403 [C/G] NM_032534 KRBA1 EXON Missense_S659T exm669043 7 149427409 [T/G] NM_032534 KRBA1 EXON Missense_I661S exm669047 7 149427549 [T/G] NM_032534 KRBA1 EXON Missense_L679R exm669058 7 149428864 [G/C] NM_032534 KRBA1 EXON Missense_Q750E exm669060 7 149430347 [T/G] NM_032534 KRBA1 EXON Missense_S768I exm669070 7 149430494 [T/C] NM_032534 KRBA1 EXON Missense_S817L exm669071 7 149430502 [T/C] NM_032534 KRBA1 EXON Missense_R820C exm669075 7 149430560 [A/G] NM_032534 KRBA1 EXON Missense_G839E exm669078 7 149430617 [A/G] NM_032534 KRBA1 EXON Missense_H858R exm669082 7 149430709 [A/G] NM_032534 KRBA1 EXON Missense_V889M exm669085 7 149430746 [A/G] NM_032534 KRBA1 EXON Missense_K901R exm669087 7 149430764 [T/C] NM_032534 KRBA1 EXON Missense_P907L exm669090 7 149430772 [A/G] NM_032534 KRBA1 EXON Missense_G910R exm669092 7 149430781 [T/C] NM_032534 KRBA1 EXON Missense_R913C exm669097 7 149430874 [T/C] NM_032534 KRBA1 EXON Missense_R944C exm-rs7802599 7 149441318 [A/C] exm669119 7 149461895 [T/C] NM_207336 ZNF467 EXON Missense_G566S exm669132 7 149462168 [T/C] NM_207336 ZNF467 EXON Missense_V475I exm669155 7 149462621 [T/C] NM_207336 ZNF467 EXON Missense_T324A exm669156 7 149462627 [A/G] NM_207336 ZNF467 EXON Missense_H322Y exm669172 7 149462928 [T/G] NM_207336 ZNF467 EXON Nonsense_C221X exm669174 7 149462941 [A/G] NM_207336 ZNF467 EXON Missense_P217L exm669176 7 149463007 [T/C] NM_207336 ZNF467 EXON Missense_R195H exm669177 7 149463019 [C/G] NM_207336 ZNF467 EXON Missense_P191R exm669185 7 149463204 [T/A] NM_207336 ZNF467 EXON Missense_H129Q exm669186 7 149463266 [A/C] NM_207336 ZNF467 EXON Missense_V109F exm669189 7 149466205 [T/C] NM_207336 ZNF467 EXON Missense_K79R exm669207 7 149473146 [T/C] NM_198455 SSPO EXON Missense_L6F exm669214 7 149473458 [C/G] NM_198455 SSPO EXON Missense_T25S exm669215 7 149473472 [A/G] NM_198455 SSPO EXON Missense_E30K exm669216 7 149473488 [A/G] NM_198455 SSPO EXON Missense_R35H exm669217 7 149473506 [T/C] NM_198455 SSPO EXON Missense_P41L exm669224 7 149473584 [A/G] NM_198455 SSPO EXON Missense_R67Q exm669225 7 149473593 [T/C] NM_198455 SSPO EXON Missense_A70V exm669227 7 149473614 [A/G] NM_198455 SSPO EXON Missense_Y77C exm669228 7 149474024 [A/T] NM_198455 SSPO EXON Missense_K78N exm669232 7 149474077 [T/C] NM_198455 SSPO EXON Missense_P96L exm669236 7 149474392 [A/C] NM_198455 SSPO EXON Missense_Q146K exm669237 7 149474393 [A/G] NM_198455 SSPO EXON Missense_Q146R exm669240 7 149474797 [T/C] NM_198455 SSPO EXON Missense_S199L exm669241 7 149474827 [A/G] NM_198455 SSPO EXON Missense_R209H exm669244 7 149474913 [T/C] NM_198455 SSPO EXON Missense_R238C exm2142919 7 149475053 [T/C] NM_198455 SSPO EXON Missense_P252S exm669250 7 149475870 [A/G] NM_198455 SSPO EXON Missense_G279E exm669253 7 149475903 [T/G] NM_198455 SSPO EXON Missense_V290G exm669255 7 149475926 [A/G] NM_198455 SSPO EXON Missense_V298M exm669256 7 149475932 [T/C] NM_198455 SSPO EXON Missense_R300W exm669261 7 149476119 [T/G] NM_198455 SSPO EXON Missense_D333Y exm669263 7 149476149 [A/G] NM_198455 SSPO EXON Missense_M343V exm669272 7 149476629 [T/G] NM_198455 SSPO EXON Missense_C361G exm669273 7 149476630 [T/G] NM_198455 SSPO EXON Missense_C361F exm669274 7 149476631 [T/G] NM_198455 SSPO EXON Missense_C361W exm669276 7 149476633 [T/C] NM_198455 SSPO EXON Missense_L362P exm669285 7 149476742 [A/C] NM_198455 SSPO EXON Missense_L398M exm669287 7 149477068 [T/C] NM_198455 SSPO EXON Synonymous_H415H exm669289 7 149477103 [T/C] NM_198455 SSPO EXON Missense_M427T exm2245212 7 149477329 [A/G] NM_198455 SSPO EXON Missense_R467H exm669309 7 149477548 [A/G] NM_198455 SSPO EXON Missense_R540H exm669312 7 149477912 [T/C] NM_198455 SSPO EXON Synonymous_P561P exm669321 7 149477992 [A/G] NM_198455 SSPO EXON Missense_C588Y exm669328 7 149479320 [T/C] NM_198455 SSPO EXON Synonymous_D611D exm669329 7 149479335 [C/G] NM_198455 SSPO EXON Synonymous_L616L exm669340 7 149480020 [T/C] NM_198455 SSPO EXON Synonymous_F662F exm669342 7 149480031 [A/G] NM_198455 SSPO EXON Missense_R666H exm669346 7 149480069 [T/C] NM_198455 SSPO EXON Missense_P679S exm669356 7 149480329 [A/G] NM_198455 SSPO EXON Synonymous_E737E exm669358 7 149480374 [T/C] NM_198455 SSPO EXON Synonymous_H752H exm669362 7 149480598 [A/G] NM_198455 SSPO Silent exm669367 7 149480652 [T/C] NM_198455 SSPO EXON Synonymous_A786A exm669368 7 149480669 [T/C] NM_198455 SSPO EXON Missense_P792L exm669370 7 149480688 [T/C] NM_198455 SSPO EXON Synonymous_C798C exm669373 7 149480714 [G/C] NM_198455 SSPO EXON Missense_R807P exm669375 7 149480764 [T/C] NM_198455 SSPO EXON Missense_P824S exm669392 7 149481218 [A/C] NM_198455 SSPO EXON Missense_N900K exm669395 7 149481943 [T/C] NM_198455 SSPO EXON Synonymous_N911N exm669397 7 149481994 [T/G] NM_198455 SSPO EXON Missense_V928F exm669408 7 149482573 [A/G] NM_198455 SSPO EXON Missense_V997M exm669422 7 149482764 [T/C] NM_198455 SSPO EXON Synonymous_S1060S exm669428 7 149483237 [A/G] NM_198455 SSPO EXON Missense_G1102E exm669437 7 149484527 [T/C] NM_198455 SSPO EXON Synonymous_D1150D exm669440 7 149484590 [T/C] NM_198455 SSPO EXON Synonymous_A1171A exm669446 7 149484634 [A/C] NM_198455 SSPO EXON Missense_D1186A exm669453 7 149484818 [A/G] NM_198455 SSPO EXON Missense_T1214A exm669460 7 149484959 [A/G] NM_198455 SSPO EXON Synonymous_S1238S exm669461 7 149484963 [A/G] NM_198455 SSPO EXON Missense_G1240S exm669464 7 149484986 [T/G] NM_198455 SSPO EXON Synonymous_S1247S exm669469 7 149485031 [T/C] NM_198455 SSPO EXON Synonymous_H1262H exm669471 7 149485059 [T/C] NM_198455 SSPO EXON Missense_S1272P exm669472 7 149485060 [A/G] NM_198455 SSPO Silent exm669478 7 149485491 [T/C] NM_198455 SSPO EXON Synonymous_P1299P exm669481 7 149485557 [T/C] NM_198455 SSPO EXON Synonymous_H1321H exm669491 7 149485985 [A/T] NM_198455 SSPO EXON Missense_C1402S exm669492 7 149485987 [A/T] NM_198455 SSPO EXON Nonsense_C1402X exm669493 7 149485989 [A/G] NM_198455 SSPO EXON Missense_G1403D exm669496 7 149486256 [T/G] NM_198455 SSPO EXON Missense_C1411F exm669499 7 149486333 [T/C] NM_198455 SSPO EXON Missense_R1437C exm2258207 7 149486367 [A/C] NM_198455 SSPO EXON Missense_P1448Q exm669501 7 149486377 [A/G] NM_198455 SSPO EXON Synonymous_P1451P exm669503 7 149486404 [T/C] NM_198455 SSPO EXON Synonymous_A1460A exm669505 7 149486420 [C/G] NM_198455 SSPO EXON Missense_P1466A exm669510 7 149486467 [T/C] NM_198455 SSPO EXON Synonymous_A1481A exm669511 7 149486468 [A/G] NM_198455 SSPO EXON Missense_D1482N exm669515 7 149486726 [T/C] NM_198455 SSPO EXON Synonymous_V1500V exm669534 7 149488591 [T/G] NM_198455 SSPO EXON Missense_R1681M exm669537 7 149488719 [T/C] NM_198455 SSPO EXON Missense_L1724F exm669539 7 149488786 [C/G] NM_198455 SSPO EXON Missense_A1746G exm669540 7 149488909 [T/C] NM_198455 SSPO EXON Synonymous_D1750D exm669541 7 149488922 [A/G] NM_198455 SSPO EXON Missense_T1755A exm669543 7 149488930 [T/C] NM_198455 SSPO EXON Synonymous_S1757S exm669545 7 149488991 [T/C] NM_198455 SSPO EXON Missense_S1778P exm669554 7 149489048 [T/C] NM_198455 SSPO EXON Missense_R1797C exm669561 7 149489413 [T/C] NM_198455 SSPO EXON Synonymous_L1856L exm669567 7 149489473 [T/C] NM_198455 SSPO EXON Missense_R1876C exm669568 7 149489491 [T/C] NM_198455 SSPO EXON Missense_R1882C exm669572 7 149489529 [T/C] NM_198455 SSPO EXON Synonymous_D1894D exm669579 7 149489747 [T/C] NM_198455 SSPO EXON Missense_R1935W exm669584 7 149489792 [T/C] NM_198455 SSPO EXON Missense_R1950C exm669586 7 149489804 [T/C] NM_198455 SSPO EXON Missense_R1954C exm669597 7 149490509 [T/C] NM_198455 SSPO EXON Synonymous_T1995T exm669599 7 149490533 [A/G] NM_198455 SSPO EXON Synonymous_P2003P exm669605 7 149491928 [A/G] NM_198455 SSPO EXON Synonymous_P2043P exm669607 7 149491941 [T/C] NM_198455 SSPO EXON Nonsense_Q2048X exm2275984 7 149493506 [C/G] NM_198455 SSPO EXON Missense_F2194L exm669634 7 149493510 [T/C] NM_198455 SSPO EXON Missense_R2196C exm669635 7 149493519 [T/C] NM_198455 SSPO EXON Nonsense_Q2199X exm669643 7 149493782 [A/G] NM_198455 SSPO EXON Missense_E2260K exm669646 7 149494369 [T/C] NM_198455 SSPO EXON Synonymous_S2280S exm669647 7 149494393 [G/C] NM_198455 SSPO EXON Synonymous_S2288S exm669650 7 149495200 [T/C] NM_198455 SSPO EXON Synonymous_P2316P exm669660 7 149497052 [T/G] NM_198455 SSPO EXON Synonymous_T2364T exm669665 7 149497421 [T/C] NM_198455 SSPO EXON Synonymous_P2393P exm669666 7 149497451 [T/C] NM_198455 SSPO EXON Synonymous_C2403C exm669674 7 149497506 [A/G] NM_198455 SSPO EXON Missense_E2422K exm669677 7 149498893 [A/G] NM_198455 SSPO EXON Missense_M2449V exm669689 7 149499027 [A/G] NM_198455 SSPO EXON Synonymous_S2493S exm669690 7 149499030 [T/C] NM_198455 SSPO EXON Synonymous_D2494D exm2245216 7 149499251 [A/G] NM_198455 SSPO EXON Missense_D2540G exm669713 7 149500127 [T/C] NM_198455 SSPO EXON Missense_P2585S exm669716 7 149500145 [A/G] NM_198455 SSPO EXON Missense_G2591S exm669731 7 149500582 [A/G] NM_198455 SSPO EXON Synonymous_G2661G exm669732 7 149500585 [T/C] NM_198455 SSPO EXON Synonymous_L2662L exm669733 7 149500597 [T/C] NM_198455 SSPO EXON Synonymous_D2666D exm669736 7 149500622 [T/C] NM_198455 SSPO EXON Missense_C2675R exm669740 7 149500777 [A/G] NM_198455 SSPO EXON Missense_V2699M exm669746 7 149500864 [A/G] NM_198455 SSPO EXON Missense_D2728N exm669747 7 149500877 [T/G] NM_198455 SSPO EXON Missense_G2732V exm669752 7 149501123 [A/G] NM_198455 SSPO EXON Synonymous_P2753P exm669761 7 149502579 [T/C] NM_198455 SSPO EXON Missense_R2798C exm669767 7 149502657 [T/C] NM_198455 SSPO EXON Missense_P2824S exm669770 7 149503088 [T/C] NM_198455 SSPO EXON Synonymous_D2864D exm669771 7 149503094 [A/G] NM_198455 SSPO EXON Synonymous_T2866T exm669774 7 149503834 [T/G] NM_198455 SSPO EXON Nonsense_E2888X exm669775 7 149503843 [T/G] NM_198455 SSPO EXON Missense_L2891V exm669782 7 149503948 [T/C] NM_198455 SSPO EXON Synonymous_P2924P exm669787 7 149504026 [T/C] NM_198455 SSPO EXON Synonymous_H2950H exm669790 7 149504070 [A/G] NM_198455 SSPO EXON Missense_C2965Y exm669800 7 149505575 [A/C] NM_198455 SSPO EXON Missense_A2985D exm669804 7 149505627 [T/C] NM_198455 SSPO EXON Synonymous_N3002N exm669813 7 149505669 [A/C] NM_198455 SSPO EXON Synonymous_P3016P exm2143039 7 149505683 [A/G] NM_198455 SSPO EXON Missense_G3021D exm669818 7 149505731 [A/G] NM_198455 SSPO EXON Missense_R3037Q exm669821 7 149506160 [T/C] NM_198455 SSPO EXON Missense_P3051L exm669823 7 149506167 [T/C] NM_198455 SSPO EXON Synonymous_S3053S exm669830 7 149506235 [T/C] NM_198455 SSPO EXON Synonymous_S3075S exm669831 7 149506239 [T/C] NM_198455 SSPO EXON Missense_C3077R exm669833 7 149506257 [A/G] NM_198455 SSPO EXON Missense_A3083T exm669835 7 149506491 [A/C] NM_198455 SSPO EXON Missense_M3089L exm669849 7 149508068 [T/C] NM_198455 SSPO EXON Synonymous_G3154G exm669860 7 149509064 [T/C] NM_198455 SSPO EXON Missense_C3204R exm669865 7 149509079 [T/C] NM_198455 SSPO EXON Missense_F3209L exm669867 7 149509114 [T/C] NM_198455 SSPO EXON Synonymous_T3220T exm669884 7 149509714 [T/C] NM_198455 SSPO EXON Missense_C3330R exm669893 7 149511564 [T/C] NM_198455 SSPO EXON Synonymous_P3408P exm669902 7 149511887 [A/G] NM_198455 SSPO EXON Synonymous_G3479G exm669906 7 149511936 [A/G] NM_198455 SSPO EXON Missense_A3496T exm669911 7 149512267 [T/C] NM_198455 SSPO EXON Synonymous_C3529C exm669914 7 149512331 [G/C] NM_198455 SSPO EXON Missense_P3551A exm669924 7 149512800 [T/C] NM_198455 SSPO EXON Missense_S3603P exm669936 7 149513077 [G/C] NM_198455 SSPO EXON Synonymous_S3660S exm669941 7 149513141 [T/C] NM_198455 SSPO EXON Missense_R3682C exm669942 7 149513152 [T/C] NM_198455 SSPO EXON Synonymous_R3685R exm669945 7 149513480 [T/C] NM_198455 SSPO EXON Missense_R3701C exm669947 7 149513560 [T/C] NM_198455 SSPO EXON Synonymous_S3727S exm669954 7 149514716 [C/G] NM_198455 SSPO EXON Missense_C3753S exm669955 7 149514744 [A/G] NM_198455 SSPO EXON Synonymous_E3762E exm669964 7 149514822 [T/A] NM_198455 SSPO EXON Synonymous_T3788T exm669966 7 149514830 [A/G] NM_198455 SSPO EXON Missense_G3791D exm669969 7 149515002 [A/G] NM_198455 SSPO EXON Missense_G3798R exm669971 7 149515034 [T/C] NM_198455 SSPO EXON Synonymous_F3808F exm669978 7 149515103 [T/C] NM_198455 SSPO EXON Synonymous_G3831G exm669979 7 149515105 [A/C] NM_198455 SSPO EXON Missense_T3832N exm669989 7 149515744 [T/G] NM_198455 SSPO EXON Missense_G3882V exm670019 7 149516968 [T/C] NM_198455 SSPO EXON Missense_P4057L exm670024 7 149517796 [A/G] NM_198455 SSPO EXON Missense_R4078H exm670028 7 149517978 [T/G] NM_198455 SSPO EXON Missense_Q4107H exm670029 7 149517990 [T/C] NM_198455 SSPO EXON Synonymous_C4111C exm670032 7 149518014 [T/C] NM_198455 SSPO EXON Synonymous_C4119C exm670035 7 149518041 [T/C] NM_198455 SSPO EXON Synonymous_A4128A exm670036 7 149518043 [T/C] NM_198455 SSPO EXON Missense_P4129L exm670039 7 149518110 [T/C] NM_198455 SSPO EXON Synonymous_A4151A exm670041 7 149518182 [T/C] NM_198455 SSPO EXON Synonymous_C4175C exm670047 7 149518560 [T/C] NM_198455 SSPO EXON Missense_S4210L exm670058 7 149518961 [T/C] NM_198455 SSPO EXON Synonymous_A4255A exm670059 7 149518967 [A/G] NM_198455 SSPO EXON Synonymous_T4257T exm2258208 7 149519022 [T/C] NM_198455 SSPO EXON Nonsense_R4276X exm670073 7 149519230 [A/G] NM_198455 SSPO EXON Missense_C4345Y exm670074 7 149519258 [C/G] NM_198455 SSPO EXON Synonymous_T4354T exm670077 7 149519649 [G/C] NM_198455 SSPO EXON Missense_R4380P exm670084 7 149519733 [A/G] NM_198455 SSPO EXON Missense_G4408D exm670085 7 149519742 [A/G] NM_198455 SSPO EXON Missense_R4411Q exm670087 7 149519760 [A/C] NM_198455 SSPO EXON Missense_N4417T exm670088 7 149519770 [T/C] NM_198455 SSPO Silent exm670091 7 149520478 [T/C] NM_198455 SSPO EXON Synonymous_C4432C exm670093 7 149520552 [T/C] NM_198455 SSPO EXON Missense_P4457L exm670094 7 149520553 [A/G] NM_198455 SSPO EXON Synonymous_P4457P exm670098 7 149520895 [T/C] NM_198455 SSPO EXON Missense_T4491I exm670099 7 149520896 [A/C] NM_198455 SSPO EXON Synonymous_T4491T exm670108 7 149521199 [T/C] NM_198455 SSPO EXON Synonymous_H4513H exm2143089 7 149521517 [A/G] NM_198455 SSPO EXON Synonymous_S4532S exm670124 7 149521673 [A/G] NM_198455 SSPO EXON Synonymous_A4584A exm670137 7 149522162 [T/G] NM_198455 SSPO EXON Missense_C4650F exm670140 7 149522165 [A/G] NM_198455 SSPO EXON Missense_R4651Q exm670148 7 149522447 [T/C] NM_198455 SSPO EXON Missense_R4692C exm670149 7 149522449 [T/C] NM_198455 SSPO EXON Synonymous_R4692R exm670150 7 149522894 [T/C] NM_198455 SSPO EXON Missense_R4705C exm670151 7 149522951 [T/C] NM_198455 SSPO EXON Missense_R4724C exm670152 7 149522995 [A/G] NM_198455 SSPO EXON Synonymous_P4738P exm670154 7 149523195 [G/C] NM_198455 SSPO EXON Missense_H4760D exm670178 7 149524036 [A/G] NM_198455 SSPO EXON Missense_V4919I exm670180 7 149524913 [A/G] NM_198455 SSPO EXON Missense_E4941K exm670184 7 149524970 [T/C] NM_198455 SSPO EXON Nonsense_R4960X exm670188 7 149524996 [T/C] NM_198455 SSPO EXON Synonymous_P4968P exm670193 7 149525728 [T/C] NM_198455 SSPO EXON Missense_P4995L exm670194 7 149525739 [T/C] NM_198455 SSPO EXON Missense_W4999R exm670195 7 149525747 [C/G] NM_198455 SSPO EXON Missense_E5001D exm670199 7 149526027 [T/C] NM_198455 SSPO EXON Synonymous_G5027G exm670200 7 149526070 [T/C] NM_198455 SSPO EXON Missense_R5042C exm670205 7 149528255 [A/G] NM_198455 SSPO EXON Synonymous_T5057T exm670206 7 149528262 [T/C] NM_198455 SSPO EXON Nonsense_R5060X exm670208 7 149528277 [C/G] NM_198455 SSPO EXON Missense_G5065R exm670215 7 149529920 [T/C] NM_198455 SSPO EXON Missense_R5112W exm670216 7 149529935 [T/C] NM_198455 SSPO EXON Missense_R5117C exm670218 7 149529955 [A/G] NM_198455 SSPO EXON Synonymous_T5123T exm670219 7 149529962 [A/G] NM_198455 SSPO EXON Missense_V5126M exm670220 7 149529970 [T/G] NM_198455 SSPO EXON Synonymous_L5128L exm670227 7 149541777 [T/C] NM_001099220 ZNF862 EXON Nonsense_Q30X exm670228 7 149543269 [T/C] NM_001099220 ZNF862 EXON Missense_R56C exm670242 7 149544949 [A/G] NM_001099220 ZNF862 EXON Missense_E123K exm670248 7 149545025 [T/C] NM_001099220 ZNF862 EXON Missense_P148L exm670249 7 149545037 [T/C] NM_001099220 ZNF862 EXON Missense_M152T exm670250 7 149545115 [T/C] NM_001099220 ZNF862 EXON Missense_I178T exm2258210 7 149545254 [T/C] NM_001099220 ZNF862 EXON Synonymous_P224P exm670257 7 149545360 [A/T] NM_001099220 ZNF862 EXON Missense_S260C exm670258 7 149545376 [T/C] NM_001099220 ZNF862 EXON Missense_L265P exm670268 7 149547340 [T/C] NM_001099220 ZNF862 EXON Missense_R344W exm2143135 7 149556520 [T/C] NM_001099220 ZNF862 EXON Missense_A376V exm670276 7 149556553 [A/G] NM_001099220 ZNF862 EXON Missense_R387Q exm670288 7 149557722 [A/G] NM_001099220 ZNF862 EXON Missense_I491M exm670290 7 149557819 [A/G] NM_001099220 ZNF862 EXON Missense_A524T exm2143143 7 149557871 [T/C] NM_001099220 ZNF862 EXON Missense_T541I exm670294 7 149557928 [A/G] NM_001099220 ZNF862 EXON Missense_N560S exm670306 7 149558104 [T/C] NM_001099220 ZNF862 EXON Missense_R619W exm670307 7 149558125 [A/G] NM_001099220 ZNF862 EXON Missense_V626M exm670309 7 149558149 [A/G] NM_001099220 ZNF862 EXON Missense_A634T exm670320 7 149558336 [T/C] NM_001099220 ZNF862 EXON Missense_T696M exm670322 7 149558416 [T/C] NM_001099220 ZNF862 EXON Missense_H723Y exm670327 7 149558506 [A/G] NM_001099220 ZNF862 EXON Missense_V753I exm670329 7 149558632 [T/C] NM_001099220 ZNF862 EXON Missense_R795C exm670337 7 149558744 [T/C] NM_001099220 ZNF862 EXON Missense_M832T exm670342 7 149558932 [A/G] NM_001099220 ZNF862 EXON Missense_A895T exm670346 7 149559029 [T/C] NM_001099220 ZNF862 EXON Missense_T927M exm670362 7 149559387 [G/C] NM_001099220 ZNF862 EXON Missense_M1046I exm670363 7 149559392 [A/G] NM_001099220 ZNF862 EXON Missense_R1048Q exm670369 7 149559472 [A/G] NM_001099220 ZNF862 EXON Missense_V1075I exm670375 7 149559550 [A/G] NM_001099220 ZNF862 EXON Missense_T1101A exm670384 7 149561293 [A/G] NM_001099220 ZNF862 EXON Missense_V1144I exm670387 7 149561323 [A/G] NM_001099220 ZNF862 EXON Missense_E1154K exm670390 7 149571035 [A/C] NM_001100592,NM_145230 ATP6V0E2,ATP6V0E2 EXON Missense_I10L,Missense_I10L exm670404 7 149572716 [T/C] NM_001100592,NM_145230 ATP6V0E2,ATP6V0E2 EXON Missense_A94V,Missense_A94V exm670413 7 149576587 [T/C] NM_001100592,NM_145230 ATP6V0E2,ATP6V0E2 EXON Nonsense_Q155X,Silent exm670418 7 149576629 [T/C] NM_001100592,NM_145230 ATP6V0E2,ATP6V0E2 EXON Nonsense_R169X,Silent exm670420 7 149576695 [C/G] NM_001100592,NM_145230 ATP6V0E2,ATP6V0E2 EXON Missense_A191P,Silent exm670424 7 149576735 [T/C] NM_001100592,NM_145230 ATP6V0E2,ATP6V0E2 EXON Missense_T204M,Silent exm670425 7 149576740 [A/C] NM_001100592,NM_145230 ATP6V0E2,ATP6V0E2 EXON Missense_Q206K,Silent exm2270713 7 149619312 [T/C] exm670426 7 149981855 [T/C] NM_001164458,NM_001164459 ACTR3C,ACTR3C EXON Missense_R184H,Missense_R184H exm670427 7 149981856 [A/G] NM_001164458,NM_001164459 ACTR3C,ACTR3C EXON Missense_R184C,Missense_R184C exm2245236 7 149992342 [T/C] NM_001164458,NM_001164459 ACTR3C,ACTR3C EXON Missense_Q15R,Missense_Q15R exm670441 7 150027497 [A/G] NM_001142928,NM_023942,NM_138434 LRRC61,LRRC61,C7orf29 EXON Silent,Silent,Missense_V2M exm2274281 7 150027513 [A/G] NM_001142928,NM_023942,NM_138434 LRRC61,LRRC61,C7orf29 EXON Silent,Silent,Missense_S7N exm670447 7 150027578 [T/C] NM_001142928,NM_023942,NM_138434 LRRC61,LRRC61,C7orf29 EXON Silent,Silent,Nonsense_Q29X exm670452 7 150027692 [T/G] NM_001142928,NM_023942,NM_138434 LRRC61,LRRC61,C7orf29 EXON Silent,Silent,Missense_Y67D exm670455 7 150027771 [T/C] NM_001142928,NM_023942,NM_138434 LRRC61,LRRC61,C7orf29 EXON Silent,Silent,Missense_P93L exm670461 7 150027846 [A/G] NM_001142928,NM_023942,NM_138434 LRRC61,LRRC61,C7orf29 EXON Silent,Silent,Missense_N118S exm670467 7 150027956 [A/G] NM_001142928,NM_023942,NM_138434 LRRC61,LRRC61,C7orf29 EXON Silent,Silent,Missense_S155G exm670475 7 150028098 [A/G] NM_001142928,NM_023942,NM_138434 LRRC61,LRRC61,C7orf29 EXON Silent,Silent,Missense_E202G exm670477 7 150028118 [T/C] NM_001142928,NM_023942,NM_138434 LRRC61,LRRC61,C7orf29 EXON Silent,Silent,Nonsense_Q209X exm670480 7 150028139 [T/C] NM_001142928,NM_023942,NM_138434 LRRC61,LRRC61,C7orf29 EXON Silent,Silent,Missense_W216R exm670491 7 150034065 [T/C] NM_001142928,NM_023942 LRRC61,LRRC61 EXON Missense_R39C,Missense_R39C exm670492 7 150034066 [A/G] NM_001142928,NM_023942 LRRC61,LRRC61 EXON Missense_R39H,Missense_R39H exm670496 7 150034141 [T/C] NM_001142928,NM_023942 LRRC61,LRRC61 EXON Missense_A64V,Missense_A64V exm670504 7 150034192 [A/G] NM_001142928,NM_023942 LRRC61,LRRC61 EXON Missense_N81S,Missense_N81S exm670519 7 150034453 [A/G] NM_001142928,NM_023942 LRRC61,LRRC61 EXON Missense_R168H,Missense_R168H exm670521 7 150034456 [A/G] NM_001142928,NM_023942 LRRC61,LRRC61 EXON Missense_G169D,Missense_G169D exm670522 7 150034533 [A/G] NM_001142928,NM_023942 LRRC61,LRRC61 EXON Missense_E195K,Missense_E195K exm2245240 7 150034600 [A/G] NM_001142928,NM_023942 LRRC61,LRRC61 EXON Missense_E217G,Missense_E217G exm670527 7 150034654 [A/G] NM_001142928,NM_023942 LRRC61,LRRC61 EXON Missense_R235H,Missense_R235H exm670530 7 150034722 [A/G] NM_001142928,NM_023942 LRRC61,LRRC61 EXON Missense_V258I,Missense_V258I exm670532 7 150035721 [T/C] NM_002889 RARRES2 EXON Missense_R162H exm2143218 7 150035766 [T/C] NM_002889 RARRES2 EXON Missense_S147N exm2275985 7 150035788 [A/G] NM_002889 RARRES2 EXON Missense_R140W exm670538 7 150036076 [T/C] NM_002889 RARRES2 EXON Missense_R125Q exm670539 7 150036077 [T/G] NM_002889 RARRES2 EXON Synonymous_R125R exm2258212 7 150036077 [T/G] NM_002889 RARRES2 EXON Synonymous_R125R exm670544 7 150036166 [T/C] NM_002889 RARRES2 EXON Missense_K95R exm670549 7 150037229 [T/C] NM_002889 RARRES2 EXON Missense_R80K exm670551 7 150037293 [T/G] NM_002889 RARRES2 EXON Missense_P59T exm670553 7 150037526 [A/G] NM_002889 RARRES2 EXON Missense_T58M exm670557 7 150037550 [T/G] NM_002889 RARRES2 EXON Missense_T50N exm670561 7 150037673 [A/G] NM_002889 RARRES2 EXON Missense_A9V exm670565 7 150066886 [G/C] NM_001099696,NM_001099695,NM_013400 REPIN1,REPIN1,REPIN1 EXON Silent,Missense_R29P,Silent exm670574 7 150068437 [T/G] NM_001099696,NM_001099695,NM_013400,NM_014374 REPIN1,REPIN1,REPIN1,REPIN1 EXON Missense_R36L,Missense_R93L,Missense_R36L,Missense_R36L exm670575 7 150068439 [A/G] NM_001099696,NM_001099695,NM_013400,NM_014374 REPIN1,REPIN1,REPIN1,REPIN1 EXON Missense_G37R,Missense_G94R,Missense_G37R,Missense_G37R exm670577 7 150068503 [A/G] NM_001099696,NM_001099695,NM_013400,NM_014374 REPIN1,REPIN1,REPIN1,REPIN1 EXON Missense_R58H,Missense_R115H,Missense_R58H,Missense_R58H exm670586 7 150068613 [T/C] NM_001099696,NM_001099695,NM_013400,NM_014374 REPIN1,REPIN1,REPIN1,REPIN1 EXON Missense_R95C,Missense_R152C,Missense_R95C,Missense_R95C exm670587 7 150068620 [T/C] NM_001099696,NM_001099695,NM_013400,NM_014374 REPIN1,REPIN1,REPIN1,REPIN1 EXON Missense_A97V,Missense_A154V,Missense_A97V,Missense_A97V exm670594 7 150068824 [A/G] NM_001099696,NM_001099695,NM_013400,NM_014374 REPIN1,REPIN1,REPIN1,REPIN1 EXON Missense_R165Q,Missense_R222Q,Missense_R165Q,Missense_R165Q exm670595 7 150068826 [T/C] NM_001099696,NM_001099695,NM_013400,NM_014374 REPIN1,REPIN1,REPIN1,REPIN1 EXON Missense_R166W,Missense_R223W,Missense_R166W,Missense_R166W exm670650 7 150093648 [G/C] NM_173680 ZNF775 EXON Missense_L27V exm670658 7 150093891 [T/G] NM_173680 ZNF775 EXON Missense_V108L exm670697 7 150163799 [A/G] NM_175571 GIMAP8 EXON Missense_S5G exm670702 7 150163850 [G/C] NM_175571 GIMAP8 EXON Missense_G22R exm670717 7 150164111 [A/G] NM_175571 GIMAP8 EXON Missense_E109K exm2143266 7 150164189 [A/C] NM_175571 GIMAP8 EXON Synonymous_R135R exm670721 7 150164234 [A/G] NM_175571 GIMAP8 EXON Missense_K150E exm670723 7 150164342 [T/C] NM_175571 GIMAP8 EXON Missense_L186F exm670724 7 150164346 [T/G] NM_175571 GIMAP8 EXON Missense_R187L exm670725 7 150164375 [A/G] NM_175571 GIMAP8 EXON Missense_G197R exm670728 7 150171165 [A/G] NM_175571 GIMAP8 EXON Missense_V250I exm670729 7 150171186 [A/G] NM_175571 GIMAP8 EXON Missense_G257S exm670733 7 150171319 [T/C] NM_175571 GIMAP8 EXON Missense_I301T exm670740 7 150171544 [T/C] NM_175571 GIMAP8 EXON Missense_T376M exm670752 7 150174269 [T/C] NM_175571 GIMAP8 EXON Missense_R467W exm670755 7 150174314 [A/G] NM_175571 GIMAP8 EXON Missense_R482G exm670761 7 150174416 [T/C] NM_175571 GIMAP8 EXON Missense_R516C exm670762 7 150174507 [G/C] NM_175571 GIMAP8 EXON Missense_A546G exm670764 7 150174538 [T/G] NM_175571 GIMAP8 EXON Missense_F556L exm670765 7 150174540 [A/C] NM_175571 GIMAP8 EXON Missense_T557K exm670772 7 150174650 [T/C] NM_175571 GIMAP8 EXON Missense_C594R exm670775 7 150174657 [A/G] NM_175571 GIMAP8 EXON Missense_R596Q exm2266490 7 150177295 [A/G] exm670792 7 150217150 [C/G] NM_153236 GIMAP7 EXON Missense_G30R exm670797 7 150217309 [T/C] NM_153236 GIMAP7 EXON Missense_R83C exm670811 7 150217591 [G/C] NM_153236 GIMAP7 EXON Missense_E177Q exm670813 7 150217627 [A/G] NM_153236 GIMAP7 EXON Missense_I189V exm670818 7 150217735 [A/G] NM_153236 GIMAP7 EXON Missense_T225A exm670819 7 150217837 [A/G] NM_153236 GIMAP7 EXON Missense_E259K exm670821 7 150217931 [A/G] NM_153236 GIMAP7 EXON Missense_R290K exm670830 7 150266999 [T/C] NM_018326 GIMAP4 EXON Nonsense_Q4X exm670831 7 150267005 [A/G] NM_018326 GIMAP4 EXON Missense_G6S exm670832 7 150267023 [C/G] NM_018326 GIMAP4 EXON Missense_P12A exm670851 7 150269472 [A/G] NM_018326 GIMAP4 EXON Missense_R105H exm670852 7 150269510 [T/C] NM_018326 GIMAP4 EXON Missense_L118F exm670854 7 150269542 [T/G] NM_018326 GIMAP4 EXON Missense_E128D exm-rs13225097 7 150307167 [A/G] exm670883 7 150324902 [T/C] NM_001244072,NM_024711,NM_001244071 GIMAP6,GIMAP6,GIMAP6 EXON Missense_V332M,Missense_V262M,Silent exm670884 7 150324913 [A/C] NM_001244072,NM_024711,NM_001244071 GIMAP6,GIMAP6,GIMAP6 EXON Missense_G328V,Missense_G258V,Silent exm670887 7 150324976 [T/C] NM_001244072,NM_024711,NM_001244071 GIMAP6,GIMAP6,GIMAP6 EXON Missense_Q307R,Missense_Q237R,Silent exm670895 7 150325106 [A/G] NM_001244072,NM_024711,NM_001244071 GIMAP6,GIMAP6,GIMAP6 EXON Missense_R264W,Missense_R194W,Silent exm2258214 7 150325146 [C/G] NM_001244072,NM_024711,NM_001244071 GIMAP6,GIMAP6,GIMAP6 EXON Synonymous_T250T,Synonymous_T180T,Silent exm670897 7 150325146 [C/G] NM_001244072,NM_024711,NM_001244071 GIMAP6,GIMAP6,GIMAP6 EXON Synonymous_T250T,Synonymous_T180T,Silent exm670898 7 150325153 [T/C] NM_001244072,NM_024711,NM_001244071 GIMAP6,GIMAP6,GIMAP6 EXON Missense_R248Q,Missense_R178Q,Silent exm670900 7 150325175 [T/C] NM_001244072,NM_024711,NM_001244071 GIMAP6,GIMAP6,GIMAP6 EXON Missense_G241S,Missense_G171S,Silent exm670902 7 150325177 [T/C] NM_001244072,NM_024711,NM_001244071 GIMAP6,GIMAP6,GIMAP6 EXON Missense_G240D,Missense_G170D,Silent exm670904 7 150325241 [A/C] NM_001244072,NM_024711,NM_001244071 GIMAP6,GIMAP6,GIMAP6 EXON Missense_V219F,Missense_V149F,Silent exm2143326 7 150325279 [A/G] NM_001244072,NM_024711,NM_001244071 GIMAP6,GIMAP6,GIMAP6 EXON Missense_T206M,Missense_T136M,Synonymous_H61H exm670910 7 150325310 [T/C] NM_001244072,NM_024711,NM_001244071 GIMAP6,GIMAP6,GIMAP6 EXON Missense_V196M,Missense_V126M,Missense_R51H exm670912 7 150325337 [T/C] NM_001244072,NM_024711,NM_001244071 GIMAP6,GIMAP6,GIMAP6 EXON Missense_V187I,Missense_V117I,Missense_R42H exm670914 7 150325372 [A/G] NM_001244072,NM_024711,NM_001244071 GIMAP6,GIMAP6,GIMAP6 EXON Missense_S175L,Missense_S105L,Synonymous_L30L exm670916 7 150325378 [T/C] NM_001244072,NM_024711,NM_001244071 GIMAP6,GIMAP6,GIMAP6 EXON Missense_Q173R,Missense_Q103R,Silent exm670922 7 150325454 [T/C] NM_001244072,NM_024711,NM_001244071 GIMAP6,GIMAP6,GIMAP6 EXON Missense_T148A,Missense_T78A,Silent exm670928 7 150325493 [T/C] NM_001244072,NM_024711,NM_001244071 GIMAP6,GIMAP6,GIMAP6 EXON Missense_V135I,Missense_V65I,Silent exm670935 7 150325591 [T/C] NM_001244072,NM_024711,NM_001244071 GIMAP6,GIMAP6,GIMAP6 EXON Missense_E102G,Missense_E32G,Silent exm670941 7 150327195 [A/C] NM_001244072,NM_024711,NM_001244071 GIMAP6,GIMAP6,GIMAP6 EXON Missense_E12D,Missense_E12D,Missense_E12D exm670945 7 150384150 [A/G] NM_015660 GIMAP2 EXON Missense_M1I exm670955 7 150389523 [A/C] NM_015660 GIMAP2 EXON Nonsense_S50X exm670957 7 150389574 [T/G] NM_015660 GIMAP2 EXON Missense_S67I exm670960 7 150389594 [T/G] NM_015660 GIMAP2 EXON Missense_V74F exm670962 7 150389610 [T/C] NM_015660 GIMAP2 EXON Missense_P79L exm670970 7 150389751 [A/C] NM_015660 GIMAP2 EXON Missense_A126E exm670976 7 150389856 [A/G] NM_015660 GIMAP2 EXON Missense_H161R exm670987 7 150390040 [A/G] NM_015660 GIMAP2 EXON Missense_I222M exm670993 7 150390125 [A/G] NM_015660 GIMAP2 EXON Missense_R251G exm670996 7 150390255 [T/C] NM_015660 GIMAP2 EXON Missense_M294T exm2270802 7 150414572 [T/C] NM_130759,NM_001199577 GIMAP1,GIMAP1-GIMAP5 Silent,Silent exm2143354 7 150417145 [A/G] NM_130759,NM_001199577 GIMAP1,GIMAP1-GIMAP5 EXON Missense_E18G,Missense_E18G exm671006 7 150417172 [T/C] NM_130759,NM_001199577 GIMAP1,GIMAP1-GIMAP5 EXON Missense_T27M,Missense_T27M exm2143356 7 150417271 [T/C] NM_130759,NM_001199577 GIMAP1,GIMAP1-GIMAP5 EXON Missense_T60M,Missense_T60M exm671015 7 150417310 [C/G] NM_130759,NM_001199577 GIMAP1,GIMAP1-GIMAP5 EXON Missense_W73S,Missense_W73S exm671018 7 150417357 [T/C] NM_130759,NM_001199577 GIMAP1,GIMAP1-GIMAP5 EXON Missense_S89P,Missense_S89P exm671051 7 150434689 [T/C] NM_001199577,NM_018384 GIMAP1-GIMAP5,GIMAP5 EXON Missense_R167C,Silent exm671055 7 150437979 [A/G] NM_001199577,NM_018384 GIMAP1-GIMAP5,GIMAP5 EXON Missense_G207R,Missense_G3R exm671065 7 150439381 [A/G] NM_001199577,NM_018384 GIMAP1-GIMAP5,GIMAP5 EXON Missense_V256M,Missense_V52M exm671075 7 150439564 [A/G] NM_001199577,NM_018384 GIMAP1-GIMAP5,GIMAP5 EXON Missense_V317I,Missense_V113I exm671080 7 150439654 [A/G] NM_001199577,NM_018384 GIMAP1-GIMAP5,GIMAP5 EXON Missense_M347V,Missense_M143V exm671081 7 150439669 [A/G] NM_001199577,NM_018384 GIMAP1-GIMAP5,GIMAP5 EXON Missense_I352V,Missense_I148V exm671086 7 150439760 [A/G] NM_001199577,NM_018384 GIMAP1-GIMAP5,GIMAP5 EXON Missense_R382Q,Missense_R178Q exm2143371 7 150439943 [A/G] NM_001199577,NM_018384 GIMAP1-GIMAP5,GIMAP5 EXON Missense_Q443R,Missense_Q239R exm671095 7 150439985 [T/G] NM_001199577,NM_018384 GIMAP1-GIMAP5,GIMAP5 EXON Missense_V457G,Missense_V253G exm671118 7 150446936 [A/G] exm671119 7 150446983 [A/G] exm671122 7 150447027 [T/G] exm671143 7 150489176 [A/G] NM_001101312,NM_014020,NM_001101311,NM_001101314 TMEM176B,TMEM176B,TMEM176B,TMEM176B EXON Nonsense_R230X,Nonsense_R230X,Nonsense_R230X,Nonsense_R193X exm671145 7 150489247 [A/G] NM_001101312,NM_014020,NM_001101311,NM_001101314 TMEM176B,TMEM176B,TMEM176B,TMEM176B EXON Missense_I206T,Missense_I206T,Missense_I206T,Missense_I169T exm671148 7 150490235 [A/G] NM_001101312,NM_014020,NM_001101311,NM_001101314 TMEM176B,TMEM176B,TMEM176B,TMEM176B EXON Nonsense_R181X,Nonsense_R181X,Nonsense_R181X,Nonsense_R144X exm671149 7 150490238 [A/G] NM_001101312,NM_014020,NM_001101311,NM_001101314 TMEM176B,TMEM176B,TMEM176B,TMEM176B EXON Missense_R180W,Missense_R180W,Missense_R180W,Missense_R143W exm671150 7 150490263 [G/C] NM_001101312,NM_014020,NM_001101311,NM_001101314 TMEM176B,TMEM176B,TMEM176B,TMEM176B EXON Missense_F171L,Missense_F171L,Missense_F171L,Missense_F134L exm671159 7 150490345 [A/G] NM_001101312,NM_014020,NM_001101311,NM_001101314 TMEM176B,TMEM176B,TMEM176B,TMEM176B EXON Missense_V144A,Missense_V144A,Missense_V144A,Missense_V107A exm671163 7 150490376 [T/C] NM_001101312,NM_014020,NM_001101311,NM_001101314 TMEM176B,TMEM176B,TMEM176B,TMEM176B EXON Missense_A134T,Missense_A134T,Missense_A134T,Missense_A97T exm671172 7 150490682 [T/C] NM_001101312,NM_014020,NM_001101311,NM_001101314 TMEM176B,TMEM176B,TMEM176B,TMEM176B EXON Missense_A108T,Missense_A108T,Missense_A108T,Missense_A71T exm671178 7 150491084 [T/G] NM_001101312,NM_014020,NM_001101311,NM_001101314 TMEM176B,TMEM176B,TMEM176B,TMEM176B EXON Missense_S94R,Missense_S94R,Missense_S94R,Silent exm671179 7 150491156 [T/C] NM_001101312,NM_014020,NM_001101311,NM_001101314 TMEM176B,TMEM176B,TMEM176B,TMEM176B EXON Missense_T70A,Missense_T70A,Missense_T70A,Silent exm671183 7 150493471 [G/C] NM_001101312,NM_014020,NM_001101311,NM_001101314 TMEM176B,TMEM176B,TMEM176B,TMEM176B EXON Missense_E63Q,Missense_E63Q,Missense_E63Q,Missense_E63Q exm671185 7 150493495 [A/G] NM_001101312,NM_014020,NM_001101311,NM_001101314 TMEM176B,TMEM176B,TMEM176B,TMEM176B EXON Missense_P55S,Missense_P55S,Missense_P55S,Missense_P55S exm671186 7 150493503 [A/T] NM_001101312,NM_014020,NM_001101311,NM_001101314 TMEM176B,TMEM176B,TMEM176B,TMEM176B EXON Missense_D52V,Missense_D52V,Missense_D52V,Missense_D52V exm671189 7 150493585 [T/C] NM_001101312,NM_014020,NM_001101311,NM_001101314 TMEM176B,TMEM176B,TMEM176B,TMEM176B EXON Missense_V25I,Missense_V25I,Missense_V25I,Missense_V25I exm671190 7 150493591 [T/C] NM_001101312,NM_014020,NM_001101311,NM_001101314 TMEM176B,TMEM176B,TMEM176B,TMEM176B EXON Missense_V23I,Missense_V23I,Missense_V23I,Missense_V23I exm671215 7 150499378 [A/G] NM_018487 TMEM176A EXON Missense_V84I exm671225 7 150500527 [T/C] NM_018487 TMEM176A EXON Missense_R109W exm671227 7 150500534 [A/G] NM_018487 TMEM176A EXON Missense_G111D exm671231 7 150500729 [A/G] NM_018487 TMEM176A EXON Missense_T122A exm671232 7 150500730 [T/C] NM_018487 TMEM176A EXON Missense_T122M exm671240 7 150500832 [T/C] NM_018487 TMEM176A EXON Missense_S156L exm2245253 7 150500907 [T/C] NM_018487 TMEM176A EXON Missense_M181T exm671248 7 150501508 [A/C] NM_018487 TMEM176A EXON Missense_A205E exm671249 7 150501516 [A/G] NM_018487 TMEM176A EXON Missense_T208A exm671250 7 150501519 [G/C] NM_018487 TMEM176A EXON Missense_P209A exm671260 7 150553605 [T/C] NM_001272072,NM_001091 ABP1,ABP1 EXON Missense_T16M,Missense_T16M exm671263 7 150553626 [T/C] NM_001272072,NM_001091 ABP1,ABP1 EXON Missense_P23L,Missense_P23L exm2258216 7 150553627 [A/G] NM_001272072,NM_001091 ABP1,ABP1 EXON Synonymous_P23P,Synonymous_P23P exm671270 7 150553831 [T/G] NM_001272072,NM_001091 ABP1,ABP1 EXON Missense_R91S,Missense_R91S exm671273 7 150553850 [T/C] NM_001272072,NM_001091 ABP1,ABP1 EXON Missense_R98C,Missense_R98C exm671283 7 150553974 [A/C] NM_001272072,NM_001091 ABP1,ABP1 EXON Missense_A139E,Missense_A139E exm671287 7 150554112 [C/G] NM_001272072,NM_001091 ABP1,ABP1 EXON Missense_T185S,Missense_T185S exm671288 7 150554114 [A/G] NM_001272072,NM_001091 ABP1,ABP1 EXON Missense_D186N,Missense_D186N exm671293 7 150554151 [A/G] NM_001272072,NM_001091 ABP1,ABP1 EXON Missense_R198H,Missense_R198H exm2143424 7 150554255 [A/G] NM_001272072,NM_001091 ABP1,ABP1 EXON Missense_V233M,Missense_V233M exm671298 7 150554261 [G/C] NM_001272072,NM_001091 ABP1,ABP1 EXON Missense_Q235E,Missense_Q235E exm671301 7 150554299 [C/G] NM_001272072,NM_001091 ABP1,ABP1 EXON Missense_E247D,Missense_E247D exm671307 7 150554394 [T/C] NM_001272072,NM_001091 ABP1,ABP1 EXON Missense_P279L,Missense_P279L exm671313 7 150554484 [G/C] NM_001272072,NM_001091 ABP1,ABP1 EXON Missense_R309P,Missense_R309P exm671315 7 150554516 [A/G] NM_001272072,NM_001091 ABP1,ABP1 EXON Missense_G320S,Missense_G320S exm671316 7 150554520 [A/G] NM_001272072,NM_001091 ABP1,ABP1 EXON Missense_G321D,Missense_G321D exm671319 7 150554553 [T/C] NM_001272072,NM_001091 ABP1,ABP1 EXON Missense_S332F,Missense_S332F exm2245254 7 150554582 [A/G] NM_001272072,NM_001091 ABP1,ABP1 EXON Missense_G342S,Missense_G342S exm671326 7 150554726 [A/G] NM_001272072,NM_001091 ABP1,ABP1 EXON Missense_D390N,Missense_D390N exm671332 7 150554798 [T/C] NM_001272072,NM_001091 ABP1,ABP1 EXON Nonsense_R414X,Nonsense_R414X exm671339 7 150554937 [A/G] NM_001272072,NM_001091 ABP1,ABP1 EXON Missense_N460S,Missense_N460S exm671341 7 150554995 [A/G] NM_001272072,NM_001091 ABP1,ABP1 EXON Missense_M479I,Missense_M479I exm671357 7 150555967 [T/C] NM_001272072,NM_001091 ABP1,ABP1 EXON Missense_R563C,Missense_R563C exm671360 7 150555982 [T/C] NM_001272072,NM_001091 ABP1,ABP1 EXON Missense_R568C,Missense_R568C exm671363 7 150556052 [A/G] NM_001272072,NM_001091 ABP1,ABP1 EXON Missense_R591H,Missense_R591H exm671364 7 150556055 [C/G] NM_001272072,NM_001091 ABP1,ABP1 EXON Missense_T592R,Missense_T592R exm671375 7 150557665 [G/C] NM_001272072,NM_001091 ABP1,ABP1 EXON Missense_H664D,Missense_H645D exm671378 7 150557707 [A/C] NM_001272072,NM_001091 ABP1,ABP1 EXON Missense_N678H,Missense_N659H exm671382 7 150558115 [A/G] NM_001272072,NM_001091 ABP1,ABP1 EXON Missense_V711M,Missense_V692M exm671388 7 150558187 [A/G] NM_001272072,NM_001091 ABP1,ABP1 EXON Missense_V735M,Missense_V716M exm-rs2968864 7 150622162 [T/C] exm-rs2968863 7 150623137 [T/C] exm-rs4725982 7 150637863 [T/C] exm671435 7 150645534 [T/G] NM_172057,NM_000238 KCNH2,KCNH2 EXON Missense_K557T,Missense_K897T exm671439 7 150645571 [A/G] NM_172057,NM_000238 KCNH2,KCNH2 EXON Missense_R545C,Missense_R885C exm671442 7 150645607 [T/C] NM_172057,NM_000238 KCNH2,KCNH2 EXON Missense_G533S,Missense_G873S exm671457 7 150647240 [A/G] NM_172057,NM_000238,NM_001204798,NM_172056 KCNH2,KCNH2,KCNH2,KCNH2 EXON Silent,Silent,Missense_A465V,Missense_A805V exm671462 7 150647283 [A/G] NM_172057,NM_000238,NM_001204798,NM_172056 KCNH2,KCNH2,KCNH2,KCNH2 EXON Missense_R451W,Missense_R791W,Missense_R451W,Missense_R791W exm671463 7 150647303 [T/C] NM_172057,NM_000238,NM_001204798,NM_172056 KCNH2,KCNH2,KCNH2,KCNH2 EXON Missense_R444Q,Missense_R784Q,Missense_R444Q,Missense_R784Q exm671525 7 150654468 [A/G] NM_000238,NM_172056 KCNH2,KCNH2 EXON Missense_P347S,Missense_P347S exm671527 7 150654525 [A/G] NM_000238,NM_172056 KCNH2,KCNH2 EXON Missense_R328C,Missense_R328C exm671549 7 150656690 [A/G] NM_000238,NM_172056 KCNH2,KCNH2 EXON Missense_R148W,Missense_R148W exm-rs3807375 7 150667210 [T/C] NM_000238,NM_172056 KCNH2,KCNH2 Silent,Silent exm671564 7 150690910 [A/G] NM_000603,NM_001160109,NM_001160110,NM_001160111 NOS3,NOS3,NOS3,NOS3 EXON Missense_V7M,Missense_V7M,Missense_V7M,Missense_V7M exm671565 7 150690922 [A/C] NM_000603,NM_001160109,NM_001160110,NM_001160111 NOS3,NOS3,NOS3,NOS3 EXON Missense_P11T,Missense_P11T,Missense_P11T,Missense_P11T exm671574 7 150691010 [A/G] NM_000603,NM_001160109,NM_001160110,NM_001160111 NOS3,NOS3,NOS3,NOS3 EXON Missense_R40Q,Missense_R40Q,Missense_R40Q,Missense_R40Q exm671585 7 150693556 [A/G] NM_000603,NM_001160109,NM_001160110,NM_001160111 NOS3,NOS3,NOS3,NOS3 EXON Missense_R112Q,Missense_R112Q,Missense_R112Q,Missense_R112Q exm671586 7 150693598 [A/T] NM_000603,NM_001160109,NM_001160110,NM_001160111 NOS3,NOS3,NOS3,NOS3 EXON Missense_Q126L,Missense_Q126L,Missense_Q126L,Missense_Q126L exm671588 7 150693604 [A/G] NM_000603,NM_001160109,NM_001160110,NM_001160111 NOS3,NOS3,NOS3,NOS3 EXON Missense_R128Q,Missense_R128Q,Missense_R128Q,Missense_R128Q exm671593 7 150693897 [A/G] NM_000603,NM_001160109,NM_001160110,NM_001160111 NOS3,NOS3,NOS3,NOS3 EXON Missense_E156K,Missense_E156K,Missense_E156K,Missense_E156K exm671605 7 150695715 [T/C] NM_000603,NM_001160109,NM_001160110,NM_001160111 NOS3,NOS3,NOS3,NOS3 EXON Missense_R255W,Missense_R255W,Missense_R255W,Missense_R255W exm671614 7 150696067 [A/G] NM_000603,NM_001160109,NM_001160110,NM_001160111 NOS3,NOS3,NOS3,NOS3 EXON Missense_G284S,Missense_G284S,Missense_G284S,Missense_G284S exm671615 7 150696076 [A/G] NM_000603,NM_001160109,NM_001160110,NM_001160111 NOS3,NOS3,NOS3,NOS3 EXON Missense_D287N,Missense_D287N,Missense_D287N,Missense_D287N exm671627 7 150697616 [T/C] NM_000603,NM_001160109,NM_001160110,NM_001160111 NOS3,NOS3,NOS3,NOS3 EXON Missense_R388W,Missense_R388W,Missense_R388W,Missense_R388W exm671630 7 150697687 [C/G] NM_000603,NM_001160109,NM_001160110,NM_001160111 NOS3,NOS3,NOS3,NOS3 EXON Missense_Q411H,Missense_Q411H,Missense_Q411H,Missense_Q411H exm671631 7 150698349 [A/G] NM_000603,NM_001160109,NM_001160110,NM_001160111 NOS3,NOS3,NOS3,NOS3 EXON Missense_A422T,Missense_A422T,Missense_A422T,Missense_A422T exm671632 7 150698352 [A/G] NM_000603,NM_001160109,NM_001160110,NM_001160111 NOS3,NOS3,NOS3,NOS3 EXON Missense_A423T,Missense_A423T,Missense_A423T,Missense_A423T exm671647 7 150698995 [A/G] NM_000603,NM_001160109,NM_001160110,NM_001160111 NOS3,NOS3,NOS3,NOS3 EXON Missense_R530Q,Missense_R530Q,Missense_R530Q,Missense_R530Q exm671654 7 150699334 [T/C] NM_000603,NM_001160109,NM_001160110,NM_001160111 NOS3,NOS3,NOS3,NOS3 EXON Missense_T565M,Missense_T565M,Missense_T565M,Missense_T565M exm671671 7 150704246 [A/G] NM_000603 NOS3 EXON Missense_R665H exm2266491 7 150704843 [A/G] NM_000603 NOS3 Silent exm671705 7 150707251 [T/C] NM_000603 NOS3 EXON Missense_T854M exm671707 7 150707257 [A/G] NM_000603 NOS3 EXON Missense_R856H exm671710 7 150707344 [T/G] NM_000603 NOS3 EXON Missense_R885M exm671731 7 150708035 [T/A] NM_000603 NOS3 EXON Missense_Q982L exm671735 7 150709453 [A/G] NM_000603,NR_073169,NM_173681 NOS3,ATG9B,ATG9B EXON Missense_R1000Q,Silent,Silent exm671752 7 150710817 [T/C] NM_000603,NR_073169,NM_173681 NOS3,ATG9B,ATG9B EXON Synonymous_Y1087Y,Silent,Silent exm671779 7 150712990 [A/C] NR_073169,NM_173681 ATG9B,ATG9B EXON Silent,Missense_L923R exm671780 7 150713042 [T/C] NR_073169,NM_173681 ATG9B,ATG9B EXON Silent,Missense_G906S exm671783 7 150713231 [T/C] NR_073169,NM_173681 ATG9B,ATG9B EXON Silent,Missense_R871H exm671794 7 150713827 [A/G] NR_073169,NM_173681 ATG9B,ATG9B EXON Silent,Missense_R791W exm671802 7 150714163 [A/G] NR_073169,NM_173681 ATG9B,ATG9B EXON Silent,Missense_P750L exm671805 7 150714169 [T/C] NR_073169,NM_173681 ATG9B,ATG9B EXON Silent,Missense_R748H exm2143587 7 150714190 [A/G] NR_073169,NM_173681 ATG9B,ATG9B EXON Silent,Missense_A741V exm671809 7 150714283 [A/C] NR_073169,NM_173681 ATG9B,ATG9B EXON Silent,Missense_R710L exm2258217 7 150714991 [A/G] NR_073169,NM_173681 ATG9B,ATG9B EXON Silent,Synonymous_A673A exm671852 7 150718336 [T/C] NR_073169,NM_173681 ATG9B,ATG9B EXON Silent,Missense_C301Y exm671853 7 150720192 [A/G] NR_073169,NM_173681 ATG9B,ATG9B EXON Silent,Missense_P254L exm671854 7 150720240 [T/C] NR_073169,NM_173681 ATG9B,ATG9B EXON Silent,Missense_Y238C exm671859 7 150720532 [T/C] NR_073169,NM_173681 ATG9B,ATG9B EXON Silent,Missense_G220E exm671862 7 150720770 [A/G] NR_073169,NM_173681 ATG9B,ATG9B Silent,Silent exm671866 7 150721014 [A/G] NR_073169,NM_173681 ATG9B,ATG9B EXON Silent,Missense_P166L exm671869 7 150721057 [T/C] NR_073169,NM_173681 ATG9B,ATG9B EXON Silent,Missense_E152K exm671870 7 150721071 [A/G] NR_073169,NM_173681 ATG9B,ATG9B EXON Silent,Missense_P147L exm671871 7 150721090 [A/G] NR_073169,NM_173681 ATG9B,ATG9B EXON Silent,Missense_R141W exm671877 7 150721180 [A/C] NR_073169,NM_173681 ATG9B,ATG9B EXON Silent,Missense_S111A exm671898 7 150721488 [T/C] NR_073169,NM_173681 ATG9B,ATG9B EXON Silent,Missense_G8E exm671901 7 150725631 [T/C] NM_007188 ABCB8 EXON Missense_I10T exm671918 7 150730712 [A/G] NM_007188 ABCB8 EXON Missense_S39N exm671927 7 150730900 [T/C] NM_007188 ABCB8 EXON Missense_P102S exm671931 7 150730937 [A/G] NM_007188 ABCB8 EXON Missense_R114H exm671936 7 150730999 [A/G] NM_007188 ABCB8 EXON Missense_V135I exm671941 7 150731381 [A/G] NM_007188 ABCB8 EXON Missense_V144M exm671946 7 150731472 [T/C] NM_007188 ABCB8 EXON Missense_S174F exm671947 7 150731483 [A/C] NM_007188 ABCB8 EXON Missense_S178R exm671961 7 150732675 [A/G] NM_007188 ABCB8 EXON Missense_R258Q exm671970 7 150732812 [T/C] NM_007188 ABCB8 EXON Missense_R304C exm671972 7 150732828 [A/C] NM_007188 ABCB8 EXON Missense_Q309P exm671979 7 150732987 [A/G] NM_007188 ABCB8 EXON Missense_V316I exm671990 7 150733213 [A/G] NM_007188 ABCB8 EXON Missense_R356H exm672013 7 150737673 [G/C] NM_007188 ABCB8 EXON Missense_P447R exm672025 7 150738221 [T/C] NM_007188 ABCB8 EXON Missense_Y507H exm2143664 7 150738239 [A/G] NM_007188 ABCB8 EXON Missense_V513M exm672028 7 150738258 [A/G] NM_007188 ABCB8 EXON Missense_R519Q exm672031 7 150739054 [A/G] NM_007188 ABCB8 EXON Missense_V542I exm672032 7 150739111 [A/G] NM_007188 ABCB8 EXON Missense_D561N exm672035 7 150739135 [T/C] NM_007188 ABCB8 EXON Missense_R569W exm672038 7 150739153 [A/G] NM_007188 ABCB8 EXON Missense_E575K exm672048 7 150741183 [T/C] NM_007188 ABCB8 EXON Missense_R631W exm672052 7 150741207 [T/C] NM_007188 ABCB8 EXON Missense_R639W exm672061 7 150742384 [T/C] NM_007188 ABCB8 EXON Missense_A702V exm672067 7 150745974 [T/C] NM_020321,NM_004769,NR_046401,NM_020322 ASIC3,ASIC3,ASIC3,ASIC3 EXON Missense_M1T,Missense_M1T,Silent,Missense_M1T exm672082 7 150746097 [A/G] NM_020321,NM_004769,NR_046401,NM_020322 ASIC3,ASIC3,ASIC3,ASIC3 EXON Missense_R42Q,Missense_R42Q,Silent,Missense_R42Q exm672084 7 150746109 [T/C] NM_020321,NM_004769,NR_046401,NM_020322 ASIC3,ASIC3,ASIC3,ASIC3 EXON Missense_A46V,Missense_A46V,Silent,Missense_A46V exm672090 7 150746189 [A/C] NM_020321,NM_004769,NR_046401,NM_020322 ASIC3,ASIC3,ASIC3,ASIC3 EXON Missense_Q73K,Missense_Q73K,Silent,Missense_Q73K exm672092 7 150746207 [T/C] NM_020321,NM_004769,NR_046401,NM_020322 ASIC3,ASIC3,ASIC3,ASIC3 EXON Nonsense_R79X,Nonsense_R79X,Silent,Nonsense_R79X exm672119 7 150746421 [A/G] NM_020321,NM_004769,NR_046401,NM_020322 ASIC3,ASIC3,ASIC3,ASIC3 EXON Missense_Y150C,Missense_Y150C,Silent,Missense_Y150C exm672126 7 150747235 [A/G] NM_020321,NM_004769,NR_046401,NM_020322 ASIC3,ASIC3,ASIC3,ASIC3 EXON Missense_A193T,Missense_A193T,Silent,Missense_A193T exm672127 7 150747236 [A/C] NM_020321,NM_004769,NR_046401,NM_020322 ASIC3,ASIC3,ASIC3,ASIC3 EXON Missense_A193D,Missense_A193D,Silent,Missense_A193D exm2245269 7 150747341 [A/G] NM_020321,NM_004769,NR_046401,NM_020322 ASIC3,ASIC3,ASIC3,ASIC3 EXON Missense_N228S,Missense_N228S,Silent,Missense_N228S exm672130 7 150747343 [C/G] NM_020321,NM_004769,NR_046401,NM_020322 ASIC3,ASIC3,ASIC3,ASIC3 EXON Missense_E229Q,Missense_E229Q,Silent,Missense_E229Q exm672132 7 150747594 [C/G] NM_020321,NM_004769,NR_046401,NM_020322 ASIC3,ASIC3,ASIC3,ASIC3 EXON Missense_R238G,Missense_R238G,Silent,Missense_R238G exm672146 7 150747970 [A/G] NM_020321,NM_004769,NR_046401,NM_020322 ASIC3,ASIC3,ASIC3,ASIC3 EXON Missense_M313I,Missense_M313I,Silent,Missense_M313I exm2275989 7 150748131 [A/G] NM_020321,NM_004769,NR_046401,NM_020322 ASIC3,ASIC3,ASIC3,ASIC3 EXON Missense_V339M,Missense_V339M,Silent,Missense_V339M exm672150 7 150748294 [A/C] NM_020321,NM_004769,NR_046401,NM_020322 ASIC3,ASIC3,ASIC3,ASIC3 EXON Missense_N368H,Missense_N368H,Silent,Missense_N368H exm672162 7 150749260 [A/G] NM_020321,NM_004769,NR_046401,NM_020322 ASIC3,ASIC3,ASIC3,ASIC3 EXON Missense_R465Q,Missense_R465Q,Silent,Missense_R465Q exm672164 7 150749289 [T/C] NM_020321,NM_004769,NR_046401,NM_020322 ASIC3,ASIC3,ASIC3,ASIC3 EXON Nonsense_R475X,Nonsense_R475X,Silent,Nonsense_R475X exm672175 7 150749683 [A/G] NM_020321,NM_004769,NR_046401,NM_020322 ASIC3,ASIC3,ASIC3,ASIC3 EXON Synonymous_P520P,Missense_V514I,Silent,Missense_R494H exm672176 7 150749686 [A/T] NM_020321,NM_004769,NR_046401,NM_020322 ASIC3,ASIC3,ASIC3,ASIC3 EXON Synonymous_S521S,Missense_T515S,Silent,Missense_H495L exm672179 7 150749728 [A/T] NM_020321,NM_004769,NR_046401,NM_020322 ASIC3,ASIC3,ASIC3,ASIC3 EXON Synonymous_S535S,Missense_T529S,Silent,Missense_H509L exm672180 7 150749758 [T/C] NM_020321,NM_004769,NR_046401,NM_020322 ASIC3,ASIC3,ASIC3,ASIC3 EXON Synonymous_L545L,Silent,Silent,Missense_S519L exm672220 7 150761314 [A/G] NM_001199692,NM_003040,NM_001199693,NM_001199694 SLC4A2,SLC4A2,SLC4A2,SLC4A2 EXON Missense_G26E,Missense_G26E,Missense_G17E,Missense_G12E exm672238 7 150761700 [T/C] NM_001199692,NM_003040,NM_001199693,NM_001199694 SLC4A2,SLC4A2,SLC4A2,SLC4A2 EXON Missense_P102L,Missense_P102L,Missense_P93L,Missense_P88L exm672240 7 150761715 [A/G] NM_001199692,NM_003040,NM_001199693,NM_001199694 SLC4A2,SLC4A2,SLC4A2,SLC4A2 EXON Missense_R107Q,Missense_R107Q,Missense_R98Q,Missense_R93Q exm672252 7 150761952 [A/T] NM_001199692,NM_003040,NM_001199693,NM_001199694 SLC4A2,SLC4A2,SLC4A2,SLC4A2 EXON Missense_D159E,Missense_D159E,Missense_D150E,Missense_D145E exm672254 7 150761965 [T/C] NM_001199692,NM_003040,NM_001199693,NM_001199694 SLC4A2,SLC4A2,SLC4A2,SLC4A2 EXON Missense_R164W,Missense_R164W,Missense_R155W,Missense_R150W exm672255 7 150761966 [A/G] NM_001199692,NM_003040,NM_001199693,NM_001199694 SLC4A2,SLC4A2,SLC4A2,SLC4A2 EXON Missense_R164Q,Missense_R164Q,Missense_R155Q,Missense_R150Q exm672262 7 150763621 [T/C] NM_001199692,NM_003040,NM_001199693,NM_001199694 SLC4A2,SLC4A2,SLC4A2,SLC4A2 EXON Missense_A199V,Missense_A199V,Missense_A190V,Missense_A185V exm672278 7 150764046 [A/G] NM_001199692,NM_003040,NM_001199693,NM_001199694 SLC4A2,SLC4A2,SLC4A2,SLC4A2 EXON Missense_R311Q,Missense_R311Q,Missense_R302Q,Missense_R297Q exm672292 7 150767360 [T/C] NM_001199692,NM_003040,NM_001199693,NM_001199694 SLC4A2,SLC4A2,SLC4A2,SLC4A2 EXON Missense_A459V,Missense_A459V,Missense_A450V,Missense_A445V exm672298 7 150767407 [A/G] NM_001199692,NM_003040,NM_001199693,NM_001199694 SLC4A2,SLC4A2,SLC4A2,SLC4A2 EXON Missense_E475K,Missense_E475K,Missense_E466K,Missense_E461K exm2143769 7 150768280 [A/G] NM_001199692,NM_003040,NM_001199693,NM_001199694 SLC4A2,SLC4A2,SLC4A2,SLC4A2 EXON Missense_R624H,Missense_R624H,Missense_R615H,Missense_R610H exm672328 7 150768498 [T/C] NM_001199692,NM_003040,NM_001199693,NM_001199694 SLC4A2,SLC4A2,SLC4A2,SLC4A2 EXON Missense_A666V,Missense_A666V,Missense_A657V,Missense_A652V exm672346 7 150768923 [T/C] NM_001199692,NM_003040,NM_001199693,NM_001199694 SLC4A2,SLC4A2,SLC4A2,SLC4A2 EXON Missense_S780L,Missense_S780L,Missense_S771L,Missense_S766L exm672353 7 150771165 [A/G] NM_001199692,NM_003040,NM_001199693,NM_001199694 SLC4A2,SLC4A2,SLC4A2,SLC4A2 EXON Missense_N859D,Missense_N859D,Missense_N850D,Missense_N845D exm672355 7 150771220 [T/C] NM_001199692,NM_003040,NM_001199693,NM_001199694 SLC4A2,SLC4A2,SLC4A2,SLC4A2 EXON Missense_T877M,Missense_T877M,Missense_T868M,Missense_T863M exm672369 7 150771796 [T/C] NM_001199692,NM_003040,NM_001199693,NM_001199694 SLC4A2,SLC4A2,SLC4A2,SLC4A2 EXON Missense_A972V,Missense_A972V,Missense_A963V,Missense_A958V exm672380 7 150772536 [T/C] NM_001199692,NM_003040,NM_001199693,NM_001199694 SLC4A2,SLC4A2,SLC4A2,SLC4A2 EXON Missense_P1081L,Missense_P1081L,Missense_P1072L,Missense_P1067L exm2143817 7 150774236 [A/G] NM_033015,NM_001258461,NM_006712 FASTK,FASTK,FASTK EXON Missense_P319L,Missense_P433L,Missense_P460L exm672457 7 150775948 [A/C] NM_033015,NM_001258461,NM_006712 FASTK,FASTK,FASTK EXON Missense_H81Q,Silent,Missense_H222Q exm672459 7 150776012 [T/C] NM_033015,NM_001258461,NM_006712 FASTK,FASTK,FASTK EXON Missense_R60Q,Missense_R201Q,Missense_R201Q exm672470 7 150776920 [T/C] NM_033015,NM_001258461,NM_006712 FASTK,FASTK,FASTK EXON Silent,Missense_V58I,Missense_V58I exm672485 7 150778855 [T/G] NM_001136044,NM_031434 TMUB1,TMUB1 EXON Missense_R174S,Missense_R174S exm672489 7 150778882 [T/G] NM_001136044,NM_031434 TMUB1,TMUB1 EXON Nonsense_C165X,Nonsense_C165X exm672500 7 150779334 [T/C] NM_001136044,NM_031434 TMUB1,TMUB1 EXON Missense_R106Q,Missense_R106Q exm672506 7 150779463 [T/C] NM_001136044,NM_031434 TMUB1,TMUB1 EXON Missense_R63K,Missense_R63K exm2245280 7 150779512 [C/G] NM_001136044,NM_031434 TMUB1,TMUB1 EXON Missense_P47A,Missense_P47A exm672546 7 150815696 [A/G] NM_001042535,NM_031946 AGAP3,AGAP3 EXON Missense_I316V,Missense_I316V exm2143864 7 150817155 [T/C] NM_001042535,NM_031946 AGAP3,AGAP3 EXON Missense_R351C,Missense_R351C exm672583 7 150835325 [T/C] NM_031946 AGAP3 EXON Missense_R531C exm672585 7 150837067 [T/C] NM_031946 AGAP3 EXON Synonymous_A556A exm672599 7 150839292 [A/G] NM_031946 AGAP3 EXON Missense_V668I exm672613 7 150840440 [A/T] NM_031946 AGAP3 EXON Missense_E762D exm672615 7 150840442 [A/G] NM_031946 AGAP3 EXON Missense_R763H exm672621 7 150840526 [A/G] NM_031946 AGAP3 EXON Missense_R791Q exm672623 7 150840549 [C/G] NM_031946 AGAP3 EXON Missense_R799G exm672629 7 150840963 [T/C] NM_031946 AGAP3 EXON Missense_P890L exm672630 7 150840984 [A/G] NM_031946 AGAP3 EXON Missense_G897D exm2245283 7 150845683 [T/C] NM_001098834 GBX1 EXON Missense_R362Q exm672637 7 150845722 [A/G] NM_001098834 GBX1 EXON Missense_A349V exm672643 7 150845977 [T/C] NM_001098834 GBX1 EXON Missense_R264H exm672646 7 150846022 [A/G] NM_001098834 GBX1 EXON Missense_P249L exm672652 7 150846188 [T/C] NM_001098834 GBX1 EXON Missense_A194T exm672658 7 150864185 [T/C] NM_001098834 GBX1 EXON Missense_D151N exm672670 7 150873246 [A/G] NM_001142459,NM_001142460,NM_080871 ASB10,ASB10,ASB10 EXON Missense_R453C,Missense_R415C,Missense_R438C exm672673 7 150873303 [A/G] NM_001142459,NM_001142460,NM_080871 ASB10,ASB10,ASB10 EXON Missense_R434C,Missense_R396C,Missense_R419C exm672678 7 150873664 [T/G] NM_001142459,NM_001142460,NM_080871 ASB10,ASB10,ASB10 EXON Missense_P402T,Silent,Missense_P387T exm672680 7 150873728 [G/C] NM_001142459,NM_001142460,NM_080871 ASB10,ASB10,ASB10 EXON Missense_I380M,Silent,Missense_I365M exm672682 7 150873754 [A/G] NM_001142459,NM_001142460,NM_080871 ASB10,ASB10,ASB10 EXON Missense_R372C,Silent,Missense_R357C exm672685 7 150878052 [A/G] NM_001142459,NM_001142460,NM_080871 ASB10,ASB10,ASB10 EXON Missense_R360C,Missense_R360C,Missense_R345C exm672696 7 150878202 [T/C] NM_001142459,NM_001142460,NM_080871 ASB10,ASB10,ASB10 EXON Missense_V310M,Missense_V310M,Missense_V295M exm672699 7 150878220 [A/G] NM_001142459,NM_001142460,NM_080871 ASB10,ASB10,ASB10 EXON Missense_R304C,Missense_R304C,Missense_R289C exm672700 7 150878244 [A/G] NM_001142459,NM_001142460,NM_080871 ASB10,ASB10,ASB10 EXON Nonsense_R296X,Nonsense_R296X,Nonsense_R281X exm672701 7 150878246 [T/A] NM_001142459,NM_001142460,NM_080871 ASB10,ASB10,ASB10 EXON Missense_Q295L,Missense_Q295L,Missense_Q280L exm672707 7 150878315 [T/C] NM_001142459,NM_001142460,NM_080871 ASB10,ASB10,ASB10 EXON Missense_R272H,Missense_R272H,Missense_R257H exm672723 7 150878511 [G/C] NM_001142459,NM_001142460,NM_080871 ASB10,ASB10,ASB10 EXON Missense_V207L,Missense_V207L,Missense_V192L exm672731 7 150883498 [A/G] NM_001142459,NM_001142460,NM_080871 ASB10,ASB10,ASB10 EXON Missense_R189W,Missense_R189W,Missense_R174W exm672737 7 150883593 [A/G] NM_001142459,NM_001142460,NM_080871 ASB10,ASB10,ASB10 EXON Missense_A157V,Missense_A157V,Missense_A142V exm672738 7 150883603 [T/C] NM_001142459,NM_001142460,NM_080871 ASB10,ASB10,ASB10 EXON Missense_E154K,Missense_E154K,Missense_E139K exm672751 7 150883927 [A/T] NM_001142459,NM_001142460,NM_080871 ASB10,ASB10,ASB10 EXON Missense_D97E,Missense_D97E,Silent exm672752 7 150883937 [T/C] NM_001142459,NM_001142460,NM_080871 ASB10,ASB10,ASB10 EXON Missense_R94Q,Missense_R94Q,Silent exm672753 7 150883947 [A/C] NM_001142459,NM_001142460,NM_080871 ASB10,ASB10,ASB10 EXON Missense_D91Y,Missense_D91Y,Silent exm672758 7 150883994 [T/G] NM_001142459,NM_001142460,NM_080871 ASB10,ASB10,ASB10 EXON Missense_A75E,Missense_A75E,Silent exm672760 7 150884003 [T/C] NM_001142459,NM_001142460,NM_080871 ASB10,ASB10,ASB10 EXON Missense_R72H,Missense_R72H,Silent exm672763 7 150884075 [G/C] NM_001142459,NM_001142460,NM_080871 ASB10,ASB10,ASB10 EXON Missense_T48S,Missense_T48S,Silent exm672772 7 150884574 [T/C] NM_080871 ASB10 EXON Missense_R79Q exm672785 7 150905167 [A/G] NM_005692 ABCF2 EXON Missense_P632L exm672792 7 150911148 [T/C] NM_005692,NM_007189 ABCF2,ABCF2 EXON Missense_N622D,Missense_N622D exm672800 7 150912020 [T/C] NM_005692,NM_007189 ABCF2,ABCF2 EXON Missense_N560S,Missense_N560S exm672831 7 150920815 [T/A] NM_005692,NM_007189 ABCF2,ABCF2 EXON Missense_K224M,Missense_K224M exm672852 7 150921894 [T/C] NM_005692,NM_007189 ABCF2,ABCF2 EXON Missense_R112H,Missense_R112H exm672873 7 150931237 [C/G] NM_019015 CHPF2 EXON Missense_G47A exm2143975 7 150932235 [T/G] NM_019015 CHPF2 EXON Missense_R122L exm672883 7 150932238 [T/C] NM_019015 CHPF2 EXON Missense_T123M exm672886 7 150932277 [A/G] NM_019015 CHPF2 EXON Missense_G136E exm672899 7 150932436 [T/C] NM_019015 CHPF2 EXON Missense_A189V exm672907 7 150932532 [A/G] NM_019015 CHPF2 EXON Missense_R221Q exm672908 7 150932567 [T/C] NM_019015 CHPF2 EXON Missense_R233W exm672911 7 150932583 [A/G] NM_019015 CHPF2 EXON Missense_R238H exm672912 7 150932589 [A/G] NM_019015 CHPF2 EXON Missense_R240Q exm672913 7 150932631 [A/G] NM_019015 CHPF2 EXON Missense_R254H exm672917 7 150932678 [A/G] NM_019015 CHPF2 EXON Missense_G270S exm672918 7 150932688 [A/C] NM_019015 CHPF2 EXON Nonsense_S273X exm672920 7 150933506 [T/C] NM_019015 CHPF2 EXON Missense_R281C exm672923 7 150933549 [A/G] NM_019015 CHPF2 EXON Missense_G295E exm672929 7 150933593 [A/G] NM_019015 CHPF2 EXON Missense_E310K exm672936 7 150934470 [T/G] NM_019015 CHPF2 EXON Missense_R341L exm2258218 7 150934492 [T/C] NM_019015 CHPF2 EXON Synonymous_P348P exm672939 7 150934493 [A/G] NM_019015 CHPF2 EXON Missense_E349K exm672941 7 150934520 [A/G] NM_019015 CHPF2 EXON Missense_V358I exm672947 7 150934599 [T/C] NM_019015 CHPF2 EXON Missense_F384S exm672948 7 150934650 [T/C] NM_019015 CHPF2 EXON Missense_A401V exm672953 7 150934692 [A/G] NM_019015 CHPF2 EXON Missense_N415S exm672954 7 150934709 [T/C] NM_019015 CHPF2 EXON Missense_R421C exm672956 7 150934742 [A/G] NM_019015 CHPF2 EXON Missense_G432S exm672957 7 150934749 [A/G] NM_019015 CHPF2 EXON Missense_R434Q exm672962 7 150934806 [T/C] NM_019015 CHPF2 EXON Missense_V453A exm672964 7 150934811 [T/C] NM_019015 CHPF2 EXON Nonsense_Q455X exm672968 7 150934827 [A/G] NM_019015 CHPF2 EXON Missense_R460Q exm672971 7 150934905 [T/C] NM_019015 CHPF2 EXON Missense_A486V exm672976 7 150934986 [A/G] NM_019015 CHPF2 EXON Missense_N513S exm672977 7 150935000 [T/C] NM_019015 CHPF2 EXON Nonsense_R518X exm672985 7 150935111 [T/C] NM_019015 CHPF2 EXON Missense_R555W exm672989 7 150935147 [T/C] NM_019015 CHPF2 EXON Nonsense_R567X exm2143991 7 150935157 [T/C] NM_019015 CHPF2 EXON Missense_A570V exm672997 7 150935328 [A/G] NM_019015 CHPF2 EXON Missense_N627S exm672999 7 150935367 [T/C] NM_019015 CHPF2 EXON Missense_P640L exm673005 7 150935430 [C/G] NM_019015 CHPF2 EXON Missense_G661A exm673013 7 150935678 [T/C] NM_019015 CHPF2 EXON Missense_R744C exm673033 7 150936565 [T/C] NM_003078,NM_001003801,NM_001003802 SMARCD3,SMARCD3,SMARCD3 EXON Missense_G426S,Missense_G439S,Missense_G426S exm673049 7 150937333 [A/G] NM_003078,NM_001003801,NM_001003802 SMARCD3,SMARCD3,SMARCD3 EXON Synonymous_S333S,Synonymous_S346S,Synonymous_S333S exm2245296 7 150939673 [T/C] NM_003078,NM_001003801,NM_001003802 SMARCD3,SMARCD3,SMARCD3 EXON Missense_R145Q,Missense_R158Q,Missense_R145Q exm673095 7 150972217 [T/G] NM_003078,NM_001003802 SMARCD3,SMARCD3 EXON Missense_P8T,Missense_P8T exm673098 7 151042447 [T/G] NM_001243351,NM_016118 NUB1,NUB1 EXON Missense_K28N,Missense_K28N exm2144036 7 151046195 [T/G] NM_001243351,NM_016118 NUB1,NUB1 EXON Missense_C76G,Missense_C76G exm673108 7 151048513 [A/G] NM_001243351,NM_016118 NUB1,NUB1 EXON Missense_R121G,Missense_R121G exm673121 7 151053247 [T/C] NM_001243351,NM_016118 NUB1,NUB1 EXON Missense_P235L,Missense_P235L exm673127 7 151064101 [T/C] NM_001243351,NM_016118 NUB1,NUB1 EXON Missense_R317C,Missense_R317C exm673128 7 151064102 [A/G] NM_001243351,NM_016118 NUB1,NUB1 EXON Missense_R317H,Missense_R317H exm673141 7 151071225 [T/C] NM_001243351,NM_016118 NUB1,NUB1 EXON Missense_R455C,Missense_R455C exm673147 7 151072995 [A/G] NM_001243351,NM_016118 NUB1,NUB1 EXON Missense_R510H,Missense_R496H exm673151 7 151073747 [A/G] NM_001243351,NM_016118 NUB1,NUB1 EXON Missense_V531M,Missense_V517M exm673152 7 151073753 [A/G] NM_001243351,NM_016118 NUB1,NUB1 EXON Missense_E533K,Missense_E519K exm673197 7 151082198 [T/C] NM_198285 WDR86 EXON Missense_A280T exm673202 7 151082294 [T/C] NM_198285 WDR86 EXON Missense_V248M exm673204 7 151092884 [T/C] NM_198285 WDR86 EXON Missense_R235Q exm673215 7 151093049 [A/C] NM_198285 WDR86 EXON Missense_V180G exm673218 7 151093101 [T/C] NM_198285 WDR86 EXON Missense_G163R exm673224 7 151093212 [T/C] NM_198285 WDR86 EXON Missense_K126E exm673229 7 151097241 [T/C] NM_198285 WDR86 EXON Missense_V84M exm673230 7 151097265 [T/C] NM_198285 WDR86 EXON Missense_D76N exm2266492 7 151102867 [A/G] NM_198285 WDR86 Silent exm-rs13232179 7 151120948 [A/T] exm673250 7 151127208 [A/C] NM_144727 CRYGN EXON Missense_S159A exm673254 7 151133265 [T/C] NM_144727 CRYGN Silent exm673263 7 151133381 [T/C] NM_144727 CRYGN EXON Missense_E101K exm673270 7 151135150 [T/C] NM_144727 CRYGN EXON Missense_D68N exm673273 7 151135180 [A/G] NM_144727 CRYGN EXON Missense_R58W exm2144088 7 151135194 [T/C] NM_144727 CRYGN EXON Missense_N53S exm673277 7 151135254 [T/C] NM_144727 CRYGN EXON Missense_R33Q exm673278 7 151135255 [A/G] NM_144727 CRYGN EXON Missense_R33W exm2262268 7 151240486 [T/C] exm2258220 7 151257665 [A/G] NM_024429,NM_016203,NM_001040633 PRKAG2,PRKAG2,PRKAG2 EXON Synonymous_I300I,Synonymous_I541I,Synonymous_I497I exm673329 7 151257687 [A/C] NM_024429,NM_016203,NM_001040633 PRKAG2,PRKAG2,PRKAG2 EXON Missense_V293G,Missense_V534G,Missense_V490G exm673330 7 151257690 [A/C] NM_024429,NM_016203,NM_001040633 PRKAG2,PRKAG2,PRKAG2 EXON Missense_V292G,Missense_V533G,Missense_V489G exm673343 7 151262887 [A/G] NM_024429,NM_016203,NM_001040633 PRKAG2,PRKAG2,PRKAG2 EXON Missense_H199Y,Missense_H440Y,Missense_H396Y exm673367 7 151329197 [T/C] NM_024429,NM_016203,NM_001040633 PRKAG2,PRKAG2,PRKAG2 EXON Silent,Missense_A238T,Missense_A194T exm673384 7 151372669 [A/G] NM_016203,NM_001040633 PRKAG2,PRKAG2 EXON Missense_T174M,Missense_T130M exm2258221 7 151372719 [A/G] NM_016203,NM_001040633 PRKAG2,PRKAG2 EXON Synonymous_S157S,Synonymous_S113S exm-rs7805747 7 151407801 [A/G] NM_016203,NM_001040633 PRKAG2,PRKAG2 Silent,Silent exm-rs10224002 7 151415041 [A/G] NM_016203,NM_001040633 PRKAG2,PRKAG2 Silent,Silent exm673453 7 151478406 [T/C] NM_016203,NM_001040633 PRKAG2,PRKAG2 EXON Missense_G100S,Missense_G56S exm673458 7 151478457 [A/G] NM_016203,NM_001040633 PRKAG2,PRKAG2 EXON Missense_P83S,Missense_P39S exm2144160 7 151483612 [T/C] NM_016203,NM_001040633 PRKAG2,PRKAG2 EXON Missense_A44T,Silent exm-rs7795096 7 151546589 [T/C] NM_016203 PRKAG2 Silent exm673708 7 151573647 [A/C] NM_016203 PRKAG2 EXON Missense_S20I exm673710 7 151573666 [C/G] NM_016203 PRKAG2 EXON Missense_V14L exm673719 7 151668063 [A/G] NR_033169,NM_145292 GALNTL5,GALNTL5 EXON Silent,Missense_H94R exm2245307 7 151668102 [A/G] NR_033169,NM_145292 GALNTL5,GALNTL5 EXON Silent,Missense_S107N exm673721 7 151668119 [A/G] NR_033169,NM_145292 GALNTL5,GALNTL5 EXON Silent,Missense_E113K exm673724 7 151668151 [C/G] NR_033169,NM_145292 GALNTL5,GALNTL5 Silent,Silent exm673728 7 151680072 [T/C] NR_033169,NM_145292 GALNTL5,GALNTL5 EXON Silent,Missense_C124R exm673731 7 151680130 [A/G] NR_033169,NM_145292 GALNTL5,GALNTL5 EXON Silent,Missense_Y143C exm673734 7 151680175 [T/C] NR_033169,NM_145292 GALNTL5,GALNTL5 EXON Silent,Missense_T158M exm673738 7 151684246 [T/G] NR_033169,NM_145292 GALNTL5,GALNTL5 EXON Silent,Missense_D180Y exm673740 7 151684256 [A/G] NR_033169,NM_145292 GALNTL5,GALNTL5 EXON Silent,Missense_E183G exm673743 7 151684294 [A/G] NR_033169,NM_145292 GALNTL5,GALNTL5 EXON Silent,Missense_V196I exm673745 7 151684325 [G/C] NR_033169,NM_145292 GALNTL5,GALNTL5 EXON Silent,Missense_G206A exm2258222 7 151693502 [A/G] NR_033169,NM_145292 GALNTL5,GALNTL5 Silent,Silent exm673750 7 151699798 [C/G] NR_033169,NM_145292 GALNTL5,GALNTL5 Silent,Silent exm673755 7 151699829 [T/G] NR_033169,NM_145292 GALNTL5,GALNTL5 EXON Silent,Missense_C230F exm673757 7 151699866 [A/T] NR_033169,NM_145292 GALNTL5,GALNTL5 EXON Silent,Missense_H242Q exm673764 7 151700036 [T/C] NR_033169,NM_145292 GALNTL5,GALNTL5 EXON Silent,Missense_T299I exm673769 7 151704946 [T/C] NR_033169,NM_145292 GALNTL5,GALNTL5 EXON Silent,Missense_R315C exm673771 7 151704999 [C/G] NR_033169,NM_145292 GALNTL5,GALNTL5 EXON Silent,Missense_W332C exm673777 7 151716747 [A/G] NR_033169,NM_145292 GALNTL5,GALNTL5 EXON Silent,Missense_R398Q exm673778 7 151716755 [A/G] NR_033169,NM_145292 GALNTL5,GALNTL5 EXON Silent,Missense_G401S exm673780 7 151716786 [A/G] NR_033169,NM_145292 GALNTL5,GALNTL5 EXON Silent,Missense_R411H exm673782 7 151716792 [A/G] NR_033169,NM_145292 GALNTL5,GALNTL5 EXON Silent,Missense_R413H exm673784 7 151716809 [T/C] NR_033169,NM_145292 GALNTL5,GALNTL5 EXON Silent,Nonsense_R419X exm673827 7 151791436 [A/G] NM_022087 GALNT11 EXON Missense_V42I exm673830 7 151791457 [A/G] NM_022087 GALNT11 EXON Missense_G49R exm673831 7 151791461 [T/C] NM_022087 GALNT11 EXON Missense_P50L exm673834 7 151791508 [C/G] NM_022087 GALNT11 EXON Missense_V66L exm2144226 7 151791576 [A/C] NM_022087 GALNT11 EXON Missense_E88D exm673839 7 151791594 [A/C] NM_022087 GALNT11 EXON Missense_F94L exm673842 7 151797901 [A/G] NM_022087 GALNT11 EXON Missense_R105H exm673847 7 151797973 [A/G] NM_022087 GALNT11 EXON Missense_Y129C exm673849 7 151800228 [T/C] NM_022087 GALNT11 EXON Missense_P151S exm673851 7 151800292 [A/G] NM_022087 GALNT11 EXON Missense_H172R exm673854 7 151800321 [G/C] NM_022087 GALNT11 EXON Missense_L182V exm2245308 7 151802332 [T/G] NM_022087 GALNT11 EXON Missense_D197Y exm673873 7 151805198 [A/G] NM_022087 GALNT11 EXON Missense_R263H exm673874 7 151805206 [C/G] NM_022087 GALNT11 EXON Missense_R266G exm673882 7 151805294 [A/G] NM_022087 GALNT11 EXON Missense_N295S exm673894 7 151810377 [T/C] NM_022087 GALNT11 EXON Missense_V376A exm673899 7 151810476 [A/G] NM_022087 GALNT11 EXON Missense_E409G exm673911 7 151815793 [G/C] NM_022087 GALNT11 EXON Missense_V495L exm673914 7 151815806 [A/G] NM_022087 GALNT11 EXON Missense_R499H exm673921 7 151818659 [T/C] NM_022087 GALNT11 EXON Missense_V575A exm673922 7 151818665 [A/G] NM_022087 GALNT11 EXON Missense_Q577R exm673924 7 151818691 [A/G] NM_022087 GALNT11 EXON Missense_G586S exm673929 7 151818724 [A/G] NM_022087 GALNT11 EXON Missense_D597N exm673956 7 151842287 [A/C] NM_170606 MLL3 EXON Missense_A4709S exm2144279 7 151842355 [T/C] NM_170606 MLL3 EXON Missense_N4686S exm673964 7 151843784 [A/C] NM_170606 MLL3 EXON Missense_V4644G exm673965 7 151845129 [A/G] NM_170606 MLL3 EXON Missense_I4628T exm673987 7 151846114 [A/G] NM_170606 MLL3 EXON Missense_S4300P exm673989 7 151846195 [A/G] NM_170606 MLL3 EXON Missense_P4273S exm674000 7 151848538 [C/G] NM_170606 MLL3 EXON Missense_L4219V exm674012 7 151849882 [T/C] NM_170606 MLL3 EXON Missense_R4145H exm674021 7 151851132 [A/G] NM_170606 MLL3 EXON Missense_I4080T exm674029 7 151851376 [T/C] NM_170606 MLL3 EXON Missense_I4039V exm2144319 7 151859239 [T/G] NM_170606 MLL3 EXON Missense_N3808T exm674059 7 151859288 [T/G] NM_170606 MLL3 EXON Missense_Q3792K exm674062 7 151859420 [T/C] NM_170606 MLL3 EXON Missense_A3748T exm674067 7 151859495 [G/C] NM_170606 MLL3 EXON Missense_A3723P exm674072 7 151859569 [A/G] NM_170606 MLL3 EXON Missense_T3698M exm674073 7 151859578 [T/C] NM_170606 MLL3 EXON Missense_N3695S exm674078 7 151859683 [A/G] NM_170606 MLL3 EXON Missense_S3660L exm674089 7 151859899 [A/G] NM_170606 MLL3 EXON Missense_S3588L exm674099 7 151860023 [A/G] NM_170606 MLL3 EXON Missense_S3547P exm674109 7 151860230 [C/G] NM_170606 MLL3 EXON Missense_Q3478E exm2144328 7 151860284 [A/C] NM_170606 MLL3 EXON Missense_C3460G exm674118 7 151860424 [T/A] NM_170606 MLL3 EXON Missense_I3413N exm674132 7 151860675 [T/C] NM_170606 MLL3 EXON Missense_M3329I exm674137 7 151860731 [A/G] NM_170606 MLL3 EXON Missense_L3311F exm674147 7 151868413 [A/C] NM_170606 MLL3 EXON Missense_G3130V exm674150 7 151873293 [A/G] NM_170606 MLL3 EXON Missense_P3082L exm2258223 7 151873400 [T/A] NM_170606 MLL3 EXON Synonymous_L3046L exm2144341 7 151873651 [A/G] NM_170606 MLL3 EXON Missense_R2963C exm674172 7 151873734 [A/G] NM_170606 MLL3 EXON Missense_S2935L exm674183 7 151874036 [A/T] NM_170606 MLL3 EXON Missense_E2834D exm674199 7 151874580 [A/G] NM_170606 MLL3 EXON Missense_L2653P exm674200 7 151874581 [C/G] NM_170606 MLL3 EXON Missense_L2653V exm674207 7 151874709 [T/C] NM_170606 MLL3 EXON Missense_R2610Q exm674209 7 151874751 [T/C] NM_170606 MLL3 EXON Missense_R2596Q exm674210 7 151874797 [T/C] NM_170606 MLL3 EXON Missense_V2581I exm674216 7 151874853 [T/C] NM_170606 MLL3 EXON Missense_R2562K exm674226 7 151876973 [T/C] NM_170606 MLL3 EXON Missense_R2463H exm674230 7 151877127 [T/G] NM_170606 MLL3 EXON Missense_P2412T exm674243 7 151878109 [A/G] NM_170606 MLL3 EXON Missense_P2279L exm2144376 7 151878119 [A/G] NM_170606 MLL3 EXON Missense_P2276S exm674246 7 151878214 [A/G] NM_170606 MLL3 EXON Missense_M2244T exm674249 7 151878278 [T/C] NM_170606 MLL3 EXON Missense_A2223T exm674251 7 151878292 [T/G] NM_170606 MLL3 EXON Missense_Y2218S exm674258 7 151878415 [T/C] NM_170606 MLL3 EXON Missense_Q2177R exm674259 7 151878431 [T/C] NM_170606 MLL3 EXON Missense_D2172N exm674261 7 151878479 [T/G] NM_170606 MLL3 EXON Missense_T2156P exm674273 7 151878683 [T/G] NM_170606 MLL3 EXON Missense_N2088H exm674278 7 151878872 [A/T] NM_170606 MLL3 EXON Missense_S2025T exm674279 7 151878923 [T/C] NM_170606 MLL3 EXON Missense_T2008A exm674281 7 151878988 [T/C] NM_170606 MLL3 EXON Missense_R1986Q exm674294 7 151879153 [A/G] NM_170606 MLL3 EXON Missense_S1931L exm674296 7 151879199 [T/C] NM_170606 MLL3 EXON Missense_R1916G exm674297 7 151879262 [T/C] NM_170606 MLL3 EXON Missense_M1895V exm674298 7 151879276 [T/C] NM_170606 MLL3 EXON Missense_R1890Q exm674301 7 151879358 [G/C] NM_170606 MLL3 EXON Missense_P1863A exm2144385 7 151879361 [T/C] NM_170606 MLL3 EXON Missense_I1862V exm674302 7 151879366 [G/C] NM_170606 MLL3 EXON Missense_S1860C exm674307 7 151879489 [A/G] NM_170606 MLL3 EXON Missense_M1819T exm674308 7 151879501 [A/C] NM_170606 MLL3 EXON Missense_G1815V exm674314 7 151880153 [A/C] NM_170606 MLL3 EXON Missense_S1724I exm674318 7 151882672 [A/C] NM_170606 MLL3 EXON Missense_A1685S exm674327 7 151884449 [T/G] NM_170606 MLL3 EXON Missense_T1636P exm674331 7 151884553 [T/C] NM_170606 MLL3 EXON Missense_N1601S exm2274282 7 151884872 [T/C] NM_170606 MLL3 EXON Missense_H1574R exm674352 7 151896365 [A/G] NM_170606 MLL3 EXON Synonymous_H1424H exm674363 7 151902197 [C/G] NM_170606 MLL3 EXON Missense_D1319H exm2245315 7 151919115 [T/G] NM_170606 MLL3 EXON Missense_A1157E exm674427 7 151933009 [A/T] NM_170606 MLL3 EXON Missense_S888T exm674448 7 151945060 [A/G] NM_170606 MLL3 EXON Missense_T820I exm674449 7 151945066 [A/G] NM_170606 MLL3 EXON Missense_S818L exm674485 7 151945503 [T/A] NM_170606 MLL3 EXON Missense_E672D exm674491 7 151945656 [T/A] NM_170606 MLL3 EXON Missense_N621K exm2245334 7 151945694 [T/G] NM_170606 MLL3 EXON Missense_H609N exm674493 7 151946979 [A/C] NM_170606 MLL3 EXON Missense_D599Y exm674498 7 151947973 [T/C] NM_170606 MLL3 EXON Missense_N567S exm674502 7 151949068 [C/G] NM_170606 MLL3 EXON Missense_R526P exm674503 7 151949071 [T/G] NM_170606 MLL3 EXON Missense_D525A exm674510 7 151949698 [T/G] NM_170606 MLL3 EXON Missense_P468T exm674511 7 151949735 [T/C] NM_170606 MLL3 EXON Missense_I455M exm674512 7 151949756 [A/C] NM_170606 MLL3 EXON Missense_Q448H exm2245338 7 151970945 [T/G] NM_170606 MLL3 EXON Missense_A286E exm674544 7 152007115 [A/G] NM_170606 MLL3 EXON Missense_V262A exm674549 7 152009002 [G/C] NM_170606 MLL3 EXON Missense_S207C exm2262270 7 152211627 [A/C] exm674663 7 152345762 [A/C] NM_005431 XRCC2 EXON Missense_F270V exm674680 7 152346007 [T/C] NM_005431 XRCC2 EXON Missense_R188H exm674683 7 152346069 [T/G] NM_005431 XRCC2 EXON Missense_N167K exm674693 7 152346287 [T/C] NM_005431 XRCC2 EXON Missense_I95V exm674699 7 152346380 [A/G] NM_005431 XRCC2 EXON Nonsense_R64X exm2270714 7 152402621 [T/C] exm2245342 7 152511730 [T/G] NM_020445,NR_073000,NR_073001,NM_001040135 ACTR3B,ACTR3B,ACTR3B,ACTR3B EXON Missense_Q144H,Silent,Silent,Missense_Q144H exm674769 7 152551615 [C/G] NM_020445,NR_073000,NR_073001,NM_001040135 ACTR3B,ACTR3B,ACTR3B,ACTR3B EXON Missense_P412A,Silent,Silent,Missense_P342A exm2266494 7 153144983 [A/G] exm-rs7803356 7 153402084 [T/C] exm2258231 7 153461606 [T/C] exm-rs6464375 7 153625843 [T/C] NM_001039350 DPP6 Silent exm2266495 7 153970767 [A/G] NM_001039350,NM_130797 DPP6,DPP6 Silent,Silent exm2266579 7 154060445 [A/G] NM_001039350,NM_130797,NM_001936 DPP6,DPP6,DPP6 Silent,Silent,Silent exm-rs6966462 7 154157438 [T/G] NM_001039350,NM_130797,NM_001936 DPP6,DPP6,DPP6 Silent,Silent,Silent exm-rs10260404 7 154210798 [T/C] NM_001039350,NM_130797,NM_001936 DPP6,DPP6,DPP6 Silent,Silent,Silent exm2258233 7 154432996 [T/C] NM_001039350,NM_130797,NM_001936 DPP6,DPP6,DPP6 Silent,Silent,Silent exm674871 7 154561258 [T/G] NM_001039350,NM_130797,NM_001936 DPP6,DPP6,DPP6 EXON Missense_V275L,Missense_V339L,Missense_V277L exm674901 7 154645534 [A/C] NM_001039350,NM_130797,NM_001936 DPP6,DPP6,DPP6 EXON Missense_K507Q,Missense_K571Q,Missense_K509Q exm674912 7 154667692 [A/G] NM_001039350,NM_130797,NM_001936 DPP6,DPP6,DPP6 EXON Missense_G590S,Missense_G654S,Missense_G592S exm674940 7 154681009 [A/G] NM_001039350,NM_130797,NM_001936 DPP6,DPP6,DPP6 EXON Missense_A714T,Missense_A778T,Missense_A716T exm674941 7 154681010 [T/C] NM_001039350,NM_130797,NM_001936 DPP6,DPP6,DPP6 EXON Missense_A714V,Missense_A778V,Missense_A716V exm674946 7 154681220 [A/G] NM_001039350,NM_130797,NM_001936 DPP6,DPP6,DPP6 EXON Missense_K747E,Missense_K811E,Missense_K749E exm674955 7 154684153 [T/C] NM_001039350,NM_130797,NM_001936 DPP6,DPP6,DPP6 EXON Missense_L790P,Missense_L854P,Missense_L792P exm674990 7 154738409 [T/C] NR_024477,NR_024476,NM_007349 LOC100132707,LOC100132707,PAXIP1 EXON Silent,Silent,Missense_M1013V exm675004 7 154752683 [T/G] NM_007349 PAXIP1 EXON Missense_Q785P exm675008 7 154754165 [T/C] NM_007349 PAXIP1 EXON Missense_I665V exm675023 7 154760340 [A/G] NM_007349 PAXIP1 EXON Missense_L524P exm675043 7 154760785 [A/G] NM_007349 PAXIP1 EXON Missense_H376Y exm675048 7 154767477 [T/C] NM_007349 PAXIP1 EXON Missense_V335I exm675050 7 154767515 [G/C] NM_007349 PAXIP1 EXON Missense_S322C exm675060 7 154767677 [A/G] NM_007349 PAXIP1 EXON Missense_P268L exm675088 7 154794594 [T/C] NM_007349 PAXIP1 EXON Missense_V16I exm675099 7 154862652 [T/C] NR_038945,NM_024012 LOC100128264,HTR5A EXON Silent,Missense_P15S exm675110 7 154862775 [T/G] NR_038945,NM_024012 LOC100128264,HTR5A EXON Silent,Missense_A56S exm675112 7 154862790 [T/G] NR_038945,NM_024012 LOC100128264,HTR5A EXON Silent,Missense_V61L exm2245354 7 154862814 [C/G] NR_038945,NM_024012 LOC100128264,HTR5A EXON Silent,Missense_R69G exm2144851 7 154863078 [A/G] NR_038945,NM_024012 LOC100128264,HTR5A EXON Silent,Missense_V157I exm675123 7 154863097 [T/C] NR_038945,NM_024012 LOC100128264,HTR5A EXON Silent,Missense_A163V exm675138 7 154875913 [A/G] NM_024012 HTR5A EXON Missense_A264T exm675148 7 154876019 [T/C] NM_024012 HTR5A EXON Missense_I299T exm2270804 7 154876342 [T/G] NM_024012 HTR5A EXON Silent exm675178 7 155090327 [T/C] NM_198337,NM_005542,NM_198336 INSIG1,INSIG1,INSIG1 EXON Missense_V111A,Missense_V111A,Silent exm675181 7 155090359 [A/G] NM_198337,NM_005542,NM_198336 INSIG1,INSIG1,INSIG1 EXON Missense_I122V,Missense_I122V,Silent exm675191 7 155094124 [A/G] NM_198337,NM_005542,NM_198336 INSIG1,INSIG1,INSIG1 EXON Silent,Missense_Y234C,Missense_Y82C exm675200 7 155095555 [T/G] NM_198337,NM_005542,NM_198336 INSIG1,INSIG1,INSIG1 EXON Silent,Silent,Missense_E123D exm675203 7 155095606 [A/G] NM_198337,NM_005542,NM_198336 INSIG1,INSIG1,INSIG1 Silent,Silent,Silent exm2266496 7 155151194 [A/G] exm675229 7 155251100 [G/C] NM_001427 EN2 EXON Missense_E10Q exm2258237 7 155255376 [T/C] NM_001427 EN2 EXON Synonymous_S332S exm2274285 7 155295780 [T/G] NM_001103176 CNPY1 EXON Missense_N88H exm675278 7 155301608 [T/C] NM_001103176 CNPY1 EXON Missense_Y42C exm675283 7 155301705 [G/C] NM_001103176 CNPY1 EXON Missense_P10A exm675285 7 155301717 [C/G] NM_001103176 CNPY1 EXON Missense_L6V exm-rs17837562 7 155461950 [T/C] NM_053043 RBM33 Silent exm675353 7 155531080 [A/G] NM_053043 RBM33 EXON Missense_T574A exm675388 7 155532614 [G/C] NM_053043 RBM33 EXON Missense_P648R exm675393 7 155534547 [T/C] NM_053043 RBM33 EXON Missense_M695T exm675406 7 155534687 [T/C] NM_053043 RBM33 EXON Missense_P742S exm675410 7 155534738 [T/G] NM_053043 RBM33 EXON Missense_V759L exm2245357 7 155537755 [A/G] NM_053043 RBM33 EXON Missense_Q813R exm675418 7 155537824 [T/C] NM_053043 RBM33 EXON Missense_A836V exm675422 7 155537880 [A/G] NM_053043 RBM33 EXON Missense_G855S exm675434 7 155538180 [T/C] NM_053043 RBM33 EXON Missense_R955W exm675437 7 155538223 [A/G] NM_053043 RBM33 EXON Missense_H969R exm675443 7 155556681 [A/G] NM_053043 RBM33 EXON Missense_K1052R exm675444 7 155556702 [T/C] NM_053043 RBM33 EXON Missense_P1059L exm675447 7 155559168 [T/C] NM_053043 RBM33 EXON Missense_M1065T exm675449 7 155559212 [T/C] NM_053043 RBM33 EXON Missense_R1080C exm2266497 7 155665835 [A/G] exm-rs6943029 7 155762157 [A/G] exm2270805 7 156042560 [T/C] exm-rs10949808 7 156048649 [T/G] exm2270717 7 156353029 [T/C] exm2144972 7 156437221 [A/C] NM_030936,NM_001184996,NM_001184997 RNF32,RNF32,RNF32 EXON Missense_A15E,Missense_A15E,Missense_A15E exm2245358 7 156447288 [A/T] NM_030936,NM_001184996,NM_001184997 RNF32,RNF32,RNF32 EXON Missense_I98N,Missense_I98N,Missense_I98N exm2144977 7 156447325 [C/G] NM_030936,NM_001184996,NM_001184997 RNF32,RNF32,RNF32 EXON Missense_W110C,Missense_W110C,Missense_W110C exm675548 7 156450897 [T/C] NM_030936,NM_001184996,NM_001184997 RNF32,RNF32,RNF32 EXON Nonsense_R176X,Nonsense_R176X,Nonsense_R176X exm675553 7 156451155 [T/G] NM_030936,NM_001184996,NM_001184997 RNF32,RNF32,RNF32 Silent,Silent,Silent exm675555 7 156451205 [A/C] NM_030936,NM_001184996,NM_001184997 RNF32,RNF32,RNF32 EXON Missense_L209M,Missense_L209M,Missense_L209M exm675556 7 156451209 [A/G] NM_030936,NM_001184996,NM_001184997 RNF32,RNF32,RNF32 EXON Missense_R210K,Missense_R210K,Missense_R210K exm675565 7 156468427 [A/C] NM_030936,NM_001184996,NM_001184997 RNF32,RNF32,RNF32 EXON Missense_N241T,Missense_N241T,Missense_N241T exm2144987 7 156468436 [T/C] NM_030936,NM_001184996,NM_001184997 RNF32,RNF32,RNF32 EXON Missense_I244T,Missense_I244T,Missense_I244T exm675567 7 156468475 [T/C] NM_030936,NM_001184996,NM_001184997 RNF32,RNF32,RNF32 EXON Missense_I257T,Missense_I257T,Missense_I257T exm675568 7 156468480 [T/C] NM_030936,NM_001184996,NM_001184997 RNF32,RNF32,RNF32 EXON Nonsense_R259X,Nonsense_R259X,Nonsense_R259X exm675569 7 156468481 [A/G] NM_030936,NM_001184996,NM_001184997 RNF32,RNF32,RNF32 EXON Missense_R259Q,Missense_R259Q,Missense_R259Q exm675572 7 156468559 [T/C] NM_030936,NM_001184996,NM_001184997 RNF32,RNF32,RNF32 Silent,Silent,Silent exm675577 7 156469123 [A/G] NM_030936,NM_001184996,NM_001184997 RNF32,RNF32,RNF32 EXON Missense_R288Q,Missense_R288Q,Missense_R288Q exm675584 7 156469173 [A/G] NM_030936,NM_001184996,NM_001184997 RNF32,RNF32,RNF32 EXON Missense_G305S,Missense_G305S,Missense_G305S exm675585 7 156469179 [T/C] NM_030936,NM_001184996,NM_001184997 RNF32,RNF32,RNF32 EXON Missense_R307C,Missense_R307C,Missense_R307C exm675586 7 156469182 [A/G] NM_030936,NM_001184996,NM_001184997 RNF32,RNF32,RNF32 EXON Missense_V308M,Missense_V308M,Missense_V308M exm675604 7 156476846 [G/C] NM_022458 LMBR1 EXON Missense_L467V exm675610 7 156516874 [T/C] NM_022458 LMBR1 Silent exm2145011 7 156526939 [A/G] NM_022458 LMBR1 EXON Missense_S257L exm675634 7 156554830 [T/C] NM_022458 LMBR1 EXON Missense_T228A exm675635 7 156554847 [T/G] NM_022458 LMBR1 EXON Missense_Q222P exm2258240 7 156556439 [T/C] NM_022458 LMBR1 EXON Synonymous_A158A exm675665 7 156685672 [T/C] NM_022458 LMBR1 EXON Missense_E6K exm2270718 7 156732717 [T/C] exm675674 7 156742562 [A/G] NM_138400 NOM1 EXON Missense_R44K exm675677 7 156742615 [T/C] NM_138400 NOM1 EXON Missense_P62S exm675681 7 156742676 [A/G] NM_138400 NOM1 EXON Missense_R82H exm675701 7 156743045 [T/G] NM_138400 NOM1 EXON Missense_S205I exm675709 7 156743173 [A/G] NM_138400 NOM1 EXON Missense_E248K exm2145036 7 156743202 [A/C] NM_138400 NOM1 EXON Missense_D257E exm675717 7 156743264 [A/C] NM_138400 NOM1 EXON Missense_A278E exm2245360 7 156743284 [A/G] NM_138400 NOM1 EXON Missense_E285K exm675723 7 156743411 [T/C] NM_138400 NOM1 EXON Missense_T327M exm675743 7 156752608 [A/G] NM_138400 NOM1 EXON Missense_E458K exm675746 7 156752665 [A/G] NM_138400 NOM1 EXON Missense_V477M exm675747 7 156752669 [T/C] NM_138400 NOM1 EXON Missense_V478A exm675751 7 156752722 [G/C] NM_138400 NOM1 EXON Missense_E496Q exm675753 7 156752836 [A/G] NM_138400 NOM1 EXON Missense_G534R exm675757 7 156754893 [T/C] NM_138400 NOM1 EXON Missense_R561C exm675759 7 156754901 [T/G] NM_138400 NOM1 EXON Missense_I563M exm675765 7 156755714 [A/G] NM_138400 NOM1 EXON Missense_G586S exm675768 7 156755721 [A/G] NM_138400 NOM1 EXON Missense_G588D exm675771 7 156755735 [G/C] NM_138400 NOM1 EXON Missense_L593V exm675774 7 156755775 [T/C] NM_138400 NOM1 EXON Missense_T606M exm675777 7 156755781 [A/G] NM_138400 NOM1 EXON Missense_R608H exm675779 7 156755824 [C/G] NM_138400 NOM1 EXON Missense_I622M exm675780 7 156755825 [A/G] NM_138400 NOM1 EXON Missense_D623N exm675783 7 156755831 [A/G] NM_138400 NOM1 EXON Missense_S625G exm675787 7 156755862 [T/C] NM_138400 NOM1 EXON Missense_V635A exm675794 7 156756597 [A/G] NM_138400 NOM1 Silent exm675795 7 156756623 [T/G] NM_138400 NOM1 EXON Missense_A646S exm675797 7 156756633 [T/A] NM_138400 NOM1 EXON Missense_Q649L exm675808 7 156759050 [A/G] NM_138400 NOM1 EXON Missense_Y707C exm675813 7 156759675 [A/G] NM_138400 NOM1 EXON Missense_I729M exm675816 7 156761817 [T/C] NM_138400 NOM1 EXON Missense_R779C exm675817 7 156761818 [A/G] NM_138400 NOM1 EXON Missense_R779H exm675819 7 156761827 [A/G] NM_138400 NOM1 EXON Missense_R782Q exm675821 7 156762224 [G/C] NM_138400 NOM1 EXON Missense_V804L exm675825 7 156762248 [A/G] NM_138400 NOM1 EXON Missense_V812M exm675829 7 156762335 [A/C] NM_138400 NOM1 EXON Missense_L841M exm-rs6966038 7 156880398 [A/G] exm2258242 7 156956506 [A/G] NM_014671 UBE3C EXON Synonymous_E23E exm675894 7 156967643 [A/G] NM_014671 UBE3C EXON Missense_S125G exm675897 7 156967664 [T/A] NM_014671 UBE3C EXON Missense_L132M exm675898 7 156967676 [C/G] NM_014671 UBE3C EXON Missense_E136Q exm675927 7 156974990 [A/G] NM_014671 UBE3C EXON Missense_Y320C exm675933 7 156976655 [A/G] NM_014671 UBE3C EXON Missense_A359T exm675935 7 156979555 [A/G] NM_014671 UBE3C EXON Missense_I391V exm675946 7 156994489 [A/G] NM_014671 UBE3C EXON Missense_R469Q exm675950 7 157000092 [A/G] NM_014671 UBE3C EXON Synonymous_G473G exm675960 7 157000243 [A/G] NM_014671 UBE3C EXON Missense_I524V exm675965 7 157000597 [A/G] NM_014671 UBE3C EXON Missense_M593V exm676002 7 157046754 [A/C] NM_014671 UBE3C EXON Missense_Q934P exm-rs2527866 7 157090296 [A/C] exm676025 7 157155855 [A/G] NM_005494,NM_058246 DNAJB6,DNAJB6 EXON Synonymous_A22A,Synonymous_A22A exm676071 7 157208772 [T/C] NM_058246 DNAJB6 EXON Missense_S321P exm676072 7 157208773 [T/C] NM_058246 DNAJB6 EXON Missense_S321L exm-rs10227331 7 157294938 [T/A] exm2258243 7 157308110 [T/C] exm676075 7 157333411 [A/C] NM_130843,NM_130842,NM_002847 PTPRN2,PTPRN2,PTPRN2 EXON Missense_Q986H,Missense_Q998H,Missense_Q1015H exm676124 7 157414055 [A/G] NM_130843,NM_130842,NM_002847 PTPRN2,PTPRN2,PTPRN2 EXON Synonymous_T752T,Synonymous_T764T,Synonymous_T781T exm676128 7 157414087 [T/C] NM_130843,NM_130842,NM_002847 PTPRN2,PTPRN2,PTPRN2 EXON Missense_V742M,Missense_V754M,Missense_V771M exm676135 7 157414122 [A/G] NM_130843,NM_130842,NM_002847 PTPRN2,PTPRN2,PTPRN2 EXON Missense_P730L,Missense_P742L,Missense_P759L exm676139 7 157414146 [A/G] NM_130843,NM_130842,NM_002847 PTPRN2,PTPRN2,PTPRN2 EXON Missense_A722V,Missense_A734V,Missense_A751V exm676143 7 157449078 [T/C] NM_130843,NM_130842,NM_002847 PTPRN2,PTPRN2,PTPRN2 EXON Missense_M694V,Missense_M706V,Missense_M723V exm2145206 7 157449114 [T/C] NM_130843,NM_130842,NM_002847 PTPRN2,PTPRN2,PTPRN2 EXON Missense_A682T,Missense_A694T,Missense_A711T exm676153 7 157449191 [A/G] NM_130843,NM_130842,NM_002847 PTPRN2,PTPRN2,PTPRN2 EXON Missense_P656L,Missense_P668L,Missense_P685L exm-rs6459804 7 157510195 [T/C] NM_130843,NM_130842,NM_002847 PTPRN2,PTPRN2,PTPRN2 Silent,Silent,Silent exm2270806 7 157880211 [T/C] NM_130843,NM_130842,NM_002847 PTPRN2,PTPRN2,PTPRN2 Silent,Silent,Silent exm676194 7 157926406 [T/C] NM_130843,NM_130842,NM_002847 PTPRN2,PTPRN2,PTPRN2 EXON Missense_E507K,Missense_E490K,Missense_E507K exm676198 7 157926436 [T/C] NM_130843,NM_130842,NM_002847 PTPRN2,PTPRN2,PTPRN2 EXON Missense_D497N,Missense_D480N,Missense_D497N exm676201 7 157926472 [C/G] NM_130843,NM_130842,NM_002847 PTPRN2,PTPRN2,PTPRN2 EXON Missense_Q485E,Missense_Q468E,Missense_Q485E exm676203 7 157926493 [A/G] NM_130843,NM_130842,NM_002847 PTPRN2,PTPRN2,PTPRN2 EXON Missense_P478S,Missense_P461S,Missense_P478S exm676204 7 157926494 [A/C] NM_130843,NM_130842,NM_002847 PTPRN2,PTPRN2,PTPRN2 EXON Missense_M477I,Missense_M460I,Missense_M477I exm676209 7 157926537 [A/G] NM_130843,NM_130842,NM_002847 PTPRN2,PTPRN2,PTPRN2 EXON Missense_S463L,Missense_S446L,Missense_S463L exm676210 7 157926543 [A/G] NM_130843,NM_130842,NM_002847 PTPRN2,PTPRN2,PTPRN2 EXON Missense_P461L,Missense_P444L,Missense_P461L exm2258245 7 157926641 [A/G] NM_130843,NM_130842,NM_002847 PTPRN2,PTPRN2,PTPRN2 EXON Synonymous_S428S,Synonymous_S411S,Synonymous_S428S exm676224 7 157929357 [A/T] NM_130843,NM_130842,NM_002847 PTPRN2,PTPRN2,PTPRN2 EXON Missense_L388H,Missense_L371H,Missense_L388H exm676227 7 157929370 [T/C] NM_130843,NM_130842,NM_002847 PTPRN2,PTPRN2,PTPRN2 EXON Missense_D384N,Missense_D367N,Missense_D384N exm676234 7 157931003 [T/C] NM_130843,NM_130842,NM_002847 PTPRN2,PTPRN2,PTPRN2 EXON Missense_R372H,Missense_R355H,Missense_R372H exm676237 7 157931013 [T/C] NM_130843,NM_130842,NM_002847 PTPRN2,PTPRN2,PTPRN2 EXON Missense_A369T,Missense_A352T,Missense_A369T exm676239 7 157931019 [A/G] NM_130843,NM_130842,NM_002847 PTPRN2,PTPRN2,PTPRN2 EXON Missense_P367S,Missense_P350S,Missense_P367S exm676242 7 157931054 [A/G] NM_130843,NM_130842,NM_002847 PTPRN2,PTPRN2,PTPRN2 EXON Missense_A355V,Missense_A338V,Missense_A355V exm676245 7 157931073 [G/C] NM_130843,NM_130842,NM_002847 PTPRN2,PTPRN2,PTPRN2 EXON Missense_R349G,Missense_R332G,Missense_R349G exm676246 7 157931091 [T/C] NM_130843,NM_130842,NM_002847 PTPRN2,PTPRN2,PTPRN2 EXON Missense_V343M,Missense_V326M,Missense_V343M exm676252 7 157931144 [T/C] NM_130843,NM_130842,NM_002847 PTPRN2,PTPRN2,PTPRN2 EXON Missense_S325N,Missense_S308N,Missense_S325N exm676253 7 157931151 [G/C] NM_130843,NM_130842,NM_002847 PTPRN2,PTPRN2,PTPRN2 EXON Missense_G323R,Missense_G306R,Missense_G323R exm2270720 7 157932055 [T/C] NM_130843,NM_130842,NM_002847 PTPRN2,PTPRN2,PTPRN2 Silent,Silent,Silent exm676268 7 157959683 [T/C] NM_130843,NM_130842,NM_002847 PTPRN2,PTPRN2,PTPRN2 EXON Missense_A284T,Missense_A267T,Missense_A284T exm676271 7 157959758 [T/C] NM_130843,NM_130842,NM_002847 PTPRN2,PTPRN2,PTPRN2 EXON Missense_G259R,Missense_G242R,Missense_G259R exm676273 7 157959794 [T/C] NM_130843,NM_130842,NM_002847 PTPRN2,PTPRN2,PTPRN2 EXON Missense_S247G,Missense_S230G,Missense_S247G exm676280 7 157959878 [A/G] NM_130843,NM_130842,NM_002847 PTPRN2,PTPRN2,PTPRN2 EXON Missense_R219W,Missense_R202W,Missense_R219W exm676295 7 157959965 [T/C] NM_130843,NM_130842,NM_002847 PTPRN2,PTPRN2,PTPRN2 EXON Missense_E190K,Missense_E173K,Missense_E190K exm676303 7 157985044 [A/G] NM_130843,NM_130842,NM_002847 PTPRN2,PTPRN2,PTPRN2 EXON Missense_T175M,Missense_T158M,Missense_T175M exm676304 7 157985057 [T/C] NM_130843,NM_130842,NM_002847 PTPRN2,PTPRN2,PTPRN2 EXON Missense_A171T,Missense_A154T,Missense_A171T exm676309 7 157985078 [T/C] NM_130843,NM_130842,NM_002847 PTPRN2,PTPRN2,PTPRN2 EXON Missense_A164T,Missense_A147T,Missense_A164T exm676316 7 157985149 [G/C] NM_130843,NM_130842,NM_002847 PTPRN2,PTPRN2,PTPRN2 EXON Missense_S140T,Missense_S123T,Missense_S140T exm676320 7 157985171 [T/C] NM_130843,NM_130842,NM_002847 PTPRN2,PTPRN2,PTPRN2 EXON Missense_V133I,Missense_V116I,Missense_V133I exm676331 7 158109537 [A/C] NM_130843,NM_130842,NM_002847 PTPRN2,PTPRN2,PTPRN2 EXON Missense_V84G,Missense_V67G,Missense_V84G exm676335 7 158109546 [T/C] NM_130843,NM_130842,NM_002847 PTPRN2,PTPRN2,PTPRN2 EXON Missense_R81H,Missense_R64H,Missense_R81H exm676341 7 158109576 [T/C] NM_130843,NM_130842,NM_002847 PTPRN2,PTPRN2,PTPRN2 EXON Missense_R71H,Missense_R54H,Missense_R71H exm676378 7 158443610 [A/G] NM_017760 NCAPG2 EXON Missense_R997W exm676381 7 158444986 [T/C] NM_017760 NCAPG2 EXON Missense_R978Q exm676384 7 158445063 [C/G] NM_017760 NCAPG2 EXON Missense_D952E exm676388 7 158447812 [C/G] NM_017760 NCAPG2 EXON Missense_Q882E exm676390 7 158447855 [T/G] NM_017760 NCAPG2 EXON Missense_E867D exm676391 7 158447872 [T/C] NM_017760 NCAPG2 EXON Missense_I862V exm676392 7 158447932 [T/C] NM_017760 NCAPG2 EXON Missense_V842M exm676401 7 158448119 [A/G] NM_017760 NCAPG2 EXON Missense_P806L exm676404 7 158448959 [A/G] NM_017760 NCAPG2 EXON Missense_T794M exm676410 7 158449083 [A/G] NM_017760 NCAPG2 EXON Missense_R753C exm676411 7 158449091 [T/C] NM_017760 NCAPG2 EXON Missense_H750R exm676418 7 158449344 [T/C] NM_017760 NCAPG2 EXON Missense_S705N exm2145290 7 158449357 [T/C] NM_017760 NCAPG2 EXON Missense_A701T exm676419 7 158449369 [A/G] NM_017760 NCAPG2 EXON Missense_R697W exm676424 7 158454921 [T/C] NM_017760 NCAPG2 EXON Missense_A652T exm676427 7 158455035 [T/C] NM_017760 NCAPG2 EXON Missense_N614D exm676430 7 158456893 [C/G] NM_017760 NCAPG2 EXON Missense_E600Q exm676453 7 158464295 [A/G] NM_017760 NCAPG2 EXON Missense_L464F exm2258247 7 158464320 [T/C] NM_017760 NCAPG2 EXON Synonymous_P455P exm676459 7 158468245 [A/G] NM_017760 NCAPG2 EXON Missense_I417T exm676461 7 158468330 [A/G] NM_017760 NCAPG2 EXON Missense_Y389H exm676465 7 158472777 [T/C] NM_017760 NCAPG2 EXON Missense_A341T exm2245378 7 158480073 [T/C] NM_017760 NCAPG2 EXON Missense_G245E exm676485 7 158482638 [T/C] NM_017760 NCAPG2 EXON Missense_D182G exm676491 7 158486018 [T/C] NM_017760 NCAPG2 EXON Missense_E84K exm676492 7 158486086 [A/G] NM_017760 NCAPG2 EXON Missense_V61A exm2145320 7 158486121 [A/T] NM_017760 NCAPG2 EXON Missense_E49D exm676493 7 158486138 [T/C] NM_017760 NCAPG2 EXON Missense_R44G exm676497 7 158494547 [A/G] NM_017760 NCAPG2 EXON Missense_L15P exm676511 7 158528229 [T/C] NM_020728 ESYT2 EXON Missense_G851S exm676516 7 158528258 [A/G] NM_020728 ESYT2 EXON Missense_T841M exm676520 7 158529787 [T/C] NM_020728 ESYT2 EXON Missense_R811K exm676529 7 158531807 [A/G] NM_020728 ESYT2 EXON Missense_T752M exm2245380 7 158534383 [A/G] NM_020728 ESYT2 EXON Missense_P694S exm676547 7 158534424 [A/G] NM_020728 ESYT2 EXON Missense_I680T exm676557 7 158536267 [T/C] NM_020728 ESYT2 EXON Missense_S610G exm676562 7 158536345 [A/G] NM_020728 ESYT2 EXON Missense_S584P exm676598 7 158557372 [T/C] NM_020728 ESYT2 EXON Missense_Y414C exm2262278 7 158577140 [A/G] NM_020728 ESYT2 Silent exm2245382 7 158581070 [T/C] NM_020728 ESYT2 EXON Missense_R256Q exm676623 7 158590665 [A/C] NM_020728 ESYT2 EXON Missense_F207V exm676626 7 158590707 [T/C] NM_020728 ESYT2 EXON Missense_I193V exm676628 7 158590740 [T/A] NM_020728 ESYT2 EXON Missense_C182S exm676629 7 158590745 [A/G] NM_020728 ESYT2 EXON Missense_F180S exm676643 7 158621883 [A/C] NM_020728 ESYT2 EXON Missense_S124I exm2270721 7 158639395 [T/C] exm676663 7 158663897 [T/C] NM_018051 WDR60 EXON Missense_S45F exm676667 7 158663939 [A/G] NM_018051 WDR60 EXON Missense_D59G exm676679 7 158664253 [A/G] NM_018051 WDR60 EXON Missense_V164I exm676688 7 158672476 [G/C] NM_018051 WDR60 EXON Missense_N225K exm676691 7 158672515 [T/G] NM_018051 WDR60 EXON Missense_E238D exm676695 7 158672586 [A/G] NM_018051 WDR60 EXON Missense_K262R exm676696 7 158672619 [A/G] NM_018051 WDR60 EXON Missense_Q273R exm2245383 7 158672646 [T/C] NM_018051 WDR60 EXON Missense_S282L exm676699 7 158677277 [T/G] NM_018051 WDR60 EXON Missense_G301V exm676702 7 158679717 [T/C] NM_018051 WDR60 EXON Missense_A314V exm2245384 7 158679761 [T/C] NM_018051 WDR60 EXON Missense_R329W exm676708 7 158684005 [T/C] NM_018051 WDR60 EXON Missense_P347L exm676709 7 158684013 [A/G] NM_018051 WDR60 EXON Missense_E350K exm676710 7 158684022 [A/G] NM_018051 WDR60 EXON Missense_V353M exm676718 7 158698692 [A/C] NM_018051 WDR60 EXON Missense_S457Y exm676723 7 158704245 [G/C] NM_018051 WDR60 EXON Missense_R489G exm2145417 7 158705741 [A/G] NM_018051 WDR60 EXON Synonymous_R552R exm676732 7 158705761 [T/C] NM_018051 WDR60 EXON Missense_P559L exm676733 7 158705770 [A/G] NM_018051 WDR60 EXON Missense_S562N exm676735 7 158706947 [A/G] NM_018051 WDR60 EXON Missense_D576N exm676738 7 158706999 [A/G] NM_018051 WDR60 EXON Missense_R593Q exm676744 7 158711522 [A/G] NM_018051 WDR60 EXON Missense_S628N exm676754 7 158716377 [T/C] NM_018051 WDR60 EXON Missense_T737M exm676761 7 158716423 [T/C] NM_018051 WDR60 EXON Synonymous_T752T exm676764 7 158718971 [T/C] NM_018051 WDR60 EXON Missense_S784L exm676765 7 158718974 [T/C] NM_018051 WDR60 EXON Missense_P785L exm676770 7 158719116 [A/G] NM_018051 WDR60 EXON Missense_I799V exm676772 7 158719119 [A/G] NM_018051 WDR60 EXON Missense_A800T exm676779 7 158723198 [C/G] NM_018051 WDR60 EXON Missense_L846F exm676784 7 158727181 [A/G] NM_018051 WDR60 EXON Missense_I907V exm676786 7 158727230 [A/C] NM_018051 WDR60 EXON Missense_P923Q exm2270722 7 158778256 [T/C] exm676814 7 158823395 [A/G] NM_003382 VIPR2 EXON Missense_F410S exm676817 7 158823428 [C/G] NM_003382 VIPR2 EXON Missense_A399G exm676820 7 158824645 [T/C] NM_003382 VIPR2 EXON Missense_C362Y exm2274286 7 158827277 [T/C] NM_003382 VIPR2 EXON Missense_I292V exm676840 7 158828670 [A/G] NM_003382 VIPR2 EXON Missense_A261V exm676846 7 158829484 [A/G] NM_003382 VIPR2 EXON Missense_P236L exm676847 7 158829488 [A/G] NM_003382 VIPR2 EXON Missense_L235F exm2145500 7 158896473 [T/A] NM_003382 VIPR2 EXON Missense_Y111F exm676895 7 158935228 [T/C] NM_003382 VIPR2 EXON Missense_I21V exm676920 8 190907 [A/G] NM_173539,NM_001042415,NM_001042416 ZNF596,ZNF596,ZNF596 EXON Synonymous_P4P,Synonymous_P4P,Synonymous_P4P exm676933 8 193756 [A/G] NM_173539,NM_001042415,NM_001042416 ZNF596,ZNF596,ZNF596 EXON Synonymous_Q58Q,Synonymous_Q58Q,Synonymous_Q58Q exm2258770 8 193756 [A/G] NM_173539,NM_001042415,NM_001042416 ZNF596,ZNF596,ZNF596 EXON Synonymous_Q58Q,Synonymous_Q58Q,Synonymous_Q58Q exm676949 8 195254 [A/C] NM_173539,NM_001042415,NM_001042416 ZNF596,ZNF596,ZNF596 EXON Missense_T136K,Missense_T136K,Missense_T136K exm676952 8 195338 [A/G] NM_173539,NM_001042415,NM_001042416 ZNF596,ZNF596,ZNF596 EXON Missense_C164Y,Missense_C164Y,Missense_C164Y exm676957 8 195440 [A/G] NM_173539,NM_001042415,NM_001042416 ZNF596,ZNF596,ZNF596 EXON Missense_R198H,Missense_R198H,Missense_R198H exm676961 8 195481 [T/C] NM_173539,NM_001042415,NM_001042416 ZNF596,ZNF596,ZNF596 EXON Nonsense_R212X,Nonsense_R212X,Nonsense_R212X exm676968 8 195607 [A/C] NM_173539,NM_001042415,NM_001042416 ZNF596,ZNF596,ZNF596 EXON Missense_H254N,Missense_H254N,Missense_H254N exm676975 8 195679 [A/G] NM_173539,NM_001042415,NM_001042416 ZNF596,ZNF596,ZNF596 EXON Missense_A278T,Missense_A278T,Missense_A278T exm676983 8 195868 [A/G] NM_173539,NM_001042415,NM_001042416 ZNF596,ZNF596,ZNF596 EXON Missense_G341R,Missense_G341R,Missense_G341R exm676986 8 195895 [A/C] NM_173539,NM_001042415,NM_001042416 ZNF596,ZNF596,ZNF596 EXON Missense_L350I,Missense_L350I,Missense_L350I exm676988 8 195910 [T/C] NM_173539,NM_001042415,NM_001042416 ZNF596,ZNF596,ZNF596 EXON Nonsense_R355X,Nonsense_R355X,Nonsense_R355X exm676998 8 195985 [T/C] NM_173539,NM_001042415,NM_001042416 ZNF596,ZNF596,ZNF596 EXON Nonsense_R380X,Nonsense_R380X,Nonsense_R380X exm677006 8 196121 [T/G] NM_173539,NM_001042415,NM_001042416 ZNF596,ZNF596,ZNF596 EXON Missense_G425V,Missense_G425V,Missense_G425V exm677010 8 196197 [T/A] NM_173539,NM_001042415,NM_001042416 ZNF596,ZNF596,ZNF596 EXON Missense_N450K,Missense_N450K,Missense_N450K exm677011 8 196274 [T/G] NM_173539,NM_001042415,NM_001042416 ZNF596,ZNF596,ZNF596 EXON Missense_V476G,Missense_V476G,Missense_V476G exm677015 8 196327 [A/G] NM_173539,NM_001042415,NM_001042416 ZNF596,ZNF596,ZNF596 EXON Missense_E494K,Missense_E494K,Missense_E494K exm2270941 8 326522 [T/C] exm677022 8 363185 [A/G] NM_012173,NM_183420,NM_183421 FBXO25,FBXO25,FBXO25 EXON Silent,Missense_N36D,Missense_N36D exm677031 8 382894 [T/C] NM_012173,NM_183420,NM_183421 FBXO25,FBXO25,FBXO25 EXON Silent,Missense_R83C,Missense_R83C exm677059 8 401445 [A/G] NM_012173,NM_183420,NM_183421 FBXO25,FBXO25,FBXO25 EXON Missense_M151V,Missense_M218V,Missense_M218V exm677061 8 408396 [C/G] NM_012173,NM_183420,NM_183421 FBXO25,FBXO25,FBXO25 EXON Missense_D163H,Missense_D230H,Missense_D230H exm677064 8 408419 [A/C] NM_012173,NM_183420,NM_183421 FBXO25,FBXO25,FBXO25 EXON Missense_N170K,Missense_N237K,Missense_N237K exm677102 8 442473 [T/C] NM_175075,NM_001256113 C8orf42,C8orf42 EXON Missense_A162T,Missense_A162T exm677113 8 442589 [C/G] NM_175075,NM_001256113 C8orf42,C8orf42 EXON Missense_P123R,Missense_P123R exm677114 8 442591 [T/G] NM_175075,NM_001256113 C8orf42,C8orf42 EXON Missense_D122E,Missense_D122E exm677115 8 442599 [A/C] NM_175075,NM_001256113 C8orf42,C8orf42 EXON Missense_S120A,Missense_S120A exm2173463 8 442613 [C/G] NM_175075,NM_001256113 C8orf42,C8orf42 EXON Missense_A115G,Missense_A115G exm677118 8 442614 [G/C] NM_175075,NM_001256113 C8orf42,C8orf42 EXON Missense_A115P,Missense_A115P exm-rs17665859 8 445601 [T/C] NM_175075,NM_001256113 C8orf42,C8orf42 Silent,Silent exm2266585 8 593041 [A/G] exm677142 8 618626 [A/C] NM_207332 ERICH1 EXON Missense_M410I exm677144 8 618647 [T/G] NM_207332 ERICH1 EXON Missense_R403S exm677147 8 618675 [A/G] NM_207332 ERICH1 EXON Missense_T394M exm677148 8 618700 [A/C] NM_207332 ERICH1 EXON Missense_V386L exm677153 8 618751 [T/C] NM_207332 ERICH1 EXON Missense_A369T exm677155 8 618756 [A/T] NM_207332 ERICH1 EXON Missense_D367V exm677166 8 623348 [T/C] NM_207332 ERICH1 EXON Missense_E335G exm677181 8 623480 [T/G] NM_207332 ERICH1 EXON Missense_K291T exm677182 8 623481 [T/C] NM_207332 ERICH1 EXON Missense_K291E exm677186 8 623509 [G/C] NM_207332 ERICH1 EXON Missense_D281E exm2258915 8 623572 [T/C] NM_207332 ERICH1 EXON Synonymous_P260P exm677194 8 623595 [T/C] NM_207332 ERICH1 EXON Missense_A253T exm677197 8 623604 [A/C] NM_207332 ERICH1 EXON Missense_G250C exm2258916 8 623647 [T/C] NM_207332 ERICH1 EXON Synonymous_A235A exm677206 8 623669 [A/T] NM_207332 ERICH1 EXON Missense_D228V exm677215 8 623748 [T/C] NM_207332 ERICH1 EXON Missense_V202M exm677221 8 623805 [G/C] NM_207332 ERICH1 EXON Missense_A183P exm677230 8 623906 [T/C] NM_207332 ERICH1 EXON Missense_R149Q exm677232 8 623930 [A/C] NM_207332 ERICH1 EXON Missense_S141I exm2174737 8 623943 [T/C] NM_207332 ERICH1 EXON Missense_E137K exm677236 8 623961 [T/A] NM_207332 ERICH1 EXON Missense_I131L exm677238 8 623975 [A/G] NM_207332 ERICH1 EXON Missense_P126L exm677245 8 642534 [A/G] NM_207332 ERICH1 EXON Missense_P83L exm677251 8 642582 [A/C] NM_207332 ERICH1 EXON Missense_R67L exm677253 8 642586 [A/G] NM_207332 ERICH1 EXON Nonsense_R66X exm677261 8 665968 [A/G] NM_207332 ERICH1 EXON Missense_V21A exm-rs1553412 8 788912 [A/G] NR_073466,NR_073397 ERICH1-AS1,ERICH1-AS1 Silent,Silent exm2270809 8 1018332 [T/C] NR_073466,NR_073397 ERICH1-AS1,ERICH1-AS1 Silent,Silent exm2262444 8 1439795 [T/C] exm677273 8 1496924 [T/C] NM_004745 DLGAP2 EXON Missense_A22V exm677292 8 1497260 [A/G] NM_004745 DLGAP2 EXON Missense_R134K exm677294 8 1497274 [A/G] NM_004745 DLGAP2 EXON Missense_A139T exm2246666 8 1497791 [T/A] NM_004745 DLGAP2 EXON Missense_D311V exm677320 8 1497792 [A/C] NM_004745 DLGAP2 EXON Missense_D311E exm677329 8 1514009 [A/C] NM_004745 DLGAP2 EXON Missense_P384Q exm677352 8 1581074 [A/G] NM_004745 DLGAP2 EXON Missense_A478T exm677359 8 1581185 [T/A] NM_004745 DLGAP2 EXON Missense_I515F exm677370 8 1616621 [A/G] NM_004745 DLGAP2 EXON Missense_R566H exm677375 8 1616675 [T/C] NM_004745 DLGAP2 EXON Missense_T584M exm677377 8 1616725 [A/G] NM_004745 DLGAP2 EXON Missense_A601T exm677379 8 1616743 [T/C] NM_004745 DLGAP2 EXON Missense_P607S exm677424 8 1645425 [A/G] NM_004745 DLGAP2 EXON Missense_R890Q exm677438 8 1719231 [T/C] NM_018941 CLN8 EXON Missense_A4V exm2246678 8 1719237 [A/G] NM_018941 CLN8 EXON Missense_D6G exm677441 8 1719270 [A/G] NM_018941 CLN8 EXON Missense_D17G exm677442 8 1719273 [A/T] NM_018941 CLN8 EXON Missense_Y18F exm677456 8 1719494 [T/C] NM_018941 CLN8 EXON Missense_H92Y exm677458 8 1719510 [A/G] NM_018941 CLN8 EXON Missense_R97H exm677466 8 1719594 [A/G] NM_018941 CLN8 EXON Missense_N125S exm677473 8 1719719 [T/G] NM_018941 CLN8 EXON Nonsense_E167X exm2258758 8 1719742 [T/C] NM_018941 CLN8 EXON Synonymous_C174C exm677484 8 1728491 [G/C] NM_018941 CLN8 EXON Missense_L207V exm677487 8 1728557 [G/C] NM_018941 CLN8 EXON Missense_P229A exm2258759 8 1728649 [T/C] NM_018941 CLN8 EXON Synonymous_N259N exm677492 8 1728651 [T/C] NM_018941 CLN8 EXON Missense_P260L exm677496 8 1728678 [T/A] NM_018941 CLN8 EXON Missense_E269V exm2168006 8 1806227 [T/C] NM_014629 ARHGEF10 EXON Missense_P47S exm677533 8 1808162 [T/C] NM_014629 ARHGEF10 EXON Missense_T98M exm677536 8 1808209 [A/G] NM_014629 ARHGEF10 EXON Missense_E114K exm2274287 8 1808221 [T/G] NM_014629 ARHGEF10 EXON Missense_G118C exm677540 8 1808270 [T/C] NM_014629 ARHGEF10 EXON Missense_A134V exm677573 8 1824809 [T/C] NM_014629 ARHGEF10 EXON Missense_S251L exm2168041 8 1824881 [A/G] NM_014629 ARHGEF10 EXON Missense_R275H exm677588 8 1828233 [A/G] NM_014629 ARHGEF10 EXON Missense_R288H exm677589 8 1828248 [A/G] NM_014629 ARHGEF10 EXON Missense_Y293C exm677593 8 1828289 [A/G] NM_014629 ARHGEF10 EXON Missense_V307M exm677596 8 1830813 [A/G] NM_014629 ARHGEF10 EXON Missense_V325M exm677616 8 1842613 [G/C] NM_014629 ARHGEF10 EXON Missense_L439V exm677618 8 1842629 [A/G] NM_014629 ARHGEF10 EXON Missense_Y444C exm677623 8 1842694 [A/G] NM_014629 ARHGEF10 EXON Missense_E466K exm677628 8 1842737 [T/C] NM_014629 ARHGEF10 EXON Missense_S480L exm677634 8 1844586 [A/G] NM_014629 ARHGEF10 EXON Missense_T510A exm677641 8 1846624 [A/G] NM_014629 ARHGEF10 EXON Missense_R528Q exm677648 8 1846672 [T/A] NM_014629 ARHGEF10 EXON Missense_Q544L exm677659 8 1853782 [A/G] NM_014629 ARHGEF10 EXON Missense_I623V exm677672 8 1857556 [A/G] NM_014629 ARHGEF10 EXON Missense_S688N exm677673 8 1857558 [A/G] NM_014629 ARHGEF10 EXON Missense_A689T exm677674 8 1857565 [T/C] NM_014629 ARHGEF10 EXON Missense_T691M exm677676 8 1857578 [A/C] NM_014629 ARHGEF10 EXON Missense_S695R exm677687 8 1871183 [T/C] NM_014629 ARHGEF10 EXON Missense_H733Y exm677695 8 1871716 [T/C] NM_014629 ARHGEF10 EXON Missense_A781V exm677696 8 1871748 [A/G] NM_014629 ARHGEF10 EXON Missense_G792R exm677707 8 1873461 [A/G] NM_014629 ARHGEF10 EXON Missense_H834R exm2258767 8 1873540 [T/C] NM_014629 ARHGEF10 EXON Synonymous_P860P exm677711 8 1873540 [T/C] NM_014629 ARHGEF10 EXON Synonymous_P860P exm677726 8 1876650 [A/C] NM_014629 ARHGEF10 EXON Missense_T919P exm677730 8 1876707 [A/G] NM_014629 ARHGEF10 EXON Missense_V938I exm677735 8 1876767 [A/G] NM_014629 ARHGEF10 EXON Missense_V958M exm677737 8 1876804 [T/C] NM_014629 ARHGEF10 EXON Missense_T970M exm677740 8 1877480 [T/G] NM_014629 ARHGEF10 EXON Missense_S984A exm677749 8 1881984 [A/G] NM_014629 ARHGEF10 EXON Missense_E1033G exm677762 8 1893743 [A/C] NM_014629 ARHGEF10 EXON Missense_L1107I exm677764 8 1893794 [A/G] NM_014629 ARHGEF10 EXON Missense_A1124T exm677775 8 1900903 [T/G] NM_014629 ARHGEF10 EXON Missense_V1144F exm677778 8 1900992 [T/C] NM_014629 ARHGEF10 EXON Synonymous_T1173T exm677779 8 1900993 [A/G] NM_014629 ARHGEF10 EXON Missense_G1174R exm677787 8 1904983 [T/C] NM_014629 ARHGEF10 EXON Missense_H1197Y exm2168196 8 1905031 [A/G] NM_014629 ARHGEF10 EXON Missense_E1213K exm677791 8 1905038 [A/G] NM_014629 ARHGEF10 EXON Missense_Q1215R exm677792 8 1905048 [A/C] NM_014629 ARHGEF10 EXON Missense_D1218E exm677793 8 1905059 [A/C] NM_014629 ARHGEF10 EXON Missense_A1222E exm677794 8 1905080 [G/C] NM_014629 ARHGEF10 EXON Missense_G1229A exm677795 8 1905088 [C/G] NM_014629 ARHGEF10 EXON Missense_L1232V exm677802 8 1905157 [A/G] NM_014629 ARHGEF10 EXON Missense_D1255N exm677806 8 1905263 [T/C] NM_014629 ARHGEF10 EXON Missense_S1290L exm2168202 8 1905354 [G/C] NM_014629 ARHGEF10 EXON Missense_R1320S exm677814 8 1905367 [T/C] NM_014629 ARHGEF10 EXON Missense_P1325S exm677816 8 1905386 [T/C] NM_014629 ARHGEF10 EXON Missense_A1331V exm677861 8 1950761 [A/G] NM_014867 KBTBD11 EXON Missense_Y468C exm677865 8 1950803 [A/G] NM_014867 KBTBD11 EXON Missense_E482G exm2246723 8 1993158 [A/G] NM_003970 MYOM2 EXON Silent exm677885 8 1998932 [T/C] NM_003970 MYOM2 EXON Nonsense_Q18X exm677889 8 1998956 [T/C] NM_003970 MYOM2 EXON Missense_R26W exm677899 8 2000375 [G/C] NM_003970 MYOM2 EXON Missense_R69S exm677902 8 2000398 [T/C] NM_003970 MYOM2 EXON Missense_T77M exm677905 8 2000409 [A/G] NM_003970 MYOM2 EXON Missense_E81K exm677906 8 2000428 [T/G] NM_003970 MYOM2 EXON Missense_S87I exm677911 8 2005466 [T/G] NM_003970 MYOM2 EXON Missense_R88S exm2275992 8 2005520 [C/G] NM_003970 MYOM2 EXON Missense_S106R exm677918 8 2005569 [T/C] NM_003970 MYOM2 EXON Missense_R123C exm677921 8 2005572 [A/G] NM_003970 MYOM2 EXON Missense_D124N exm677922 8 2005591 [G/C] NM_003970 MYOM2 EXON Missense_A130G exm677930 8 2005813 [T/C] NM_003970 MYOM2 EXON Missense_R159W exm677931 8 2005814 [A/G] NM_003970 MYOM2 EXON Missense_R159Q exm677933 8 2005867 [A/G] NM_003970 MYOM2 EXON Missense_V177M exm677935 8 2005883 [T/C] NM_003970 MYOM2 EXON Missense_T182M exm677937 8 2005888 [A/G] NM_003970 MYOM2 EXON Missense_V184M exm677941 8 2007303 [T/C] NM_003970 MYOM2 EXON Missense_A197V exm677949 8 2017399 [T/C] NM_003970 MYOM2 EXON Missense_A219V exm677957 8 2017468 [T/C] NM_003970 MYOM2 EXON Missense_A242V exm677974 8 2020542 [T/C] NM_003970 MYOM2 EXON Missense_T304M exm677987 8 2021421 [T/G] NM_003970 MYOM2 EXON Missense_V321L exm677998 8 2021518 [A/T] NM_003970 MYOM2 EXON Missense_Y353F exm2168578 8 2021532 [A/G] NM_003970 MYOM2 EXON Missense_V358M exm678002 8 2021547 [A/G] NM_003970 MYOM2 EXON Missense_V363I exm678009 8 2024269 [A/C] NM_003970 MYOM2 EXON Missense_Q390P exm678010 8 2024280 [A/G] NM_003970 MYOM2 EXON Missense_A394T exm678015 8 2024301 [A/G] NM_003970 MYOM2 EXON Missense_V401M exm678028 8 2026918 [T/C] NM_003970 MYOM2 EXON Nonsense_R456X exm678034 8 2026978 [A/G] NM_003970 MYOM2 EXON Missense_A476T exm678042 8 2027658 [A/G] NM_003970 MYOM2 EXON Missense_E494K exm678043 8 2027693 [A/T] NM_003970 MYOM2 EXON Missense_E505D exm678048 8 2033415 [T/C] NM_003970 MYOM2 EXON Missense_P513S exm2275993 8 2033432 [C/G] NM_003970 MYOM2 EXON Missense_H518Q exm678052 8 2033442 [A/C] NM_003970 MYOM2 EXON Missense_I522L exm678053 8 2033446 [A/G] NM_003970 MYOM2 EXON Missense_S523N exm678055 8 2033460 [A/G] NM_003970 MYOM2 EXON Missense_V528I exm678058 8 2033487 [T/C] NM_003970 MYOM2 EXON Missense_R537C exm678059 8 2033495 [C/G] NM_003970 MYOM2 EXON Missense_K539N exm678069 8 2037874 [T/C] NM_003970 MYOM2 EXON Missense_T563M exm2168617 8 2037985 [T/C] NM_003970 MYOM2 EXON Missense_T600M exm678080 8 2037988 [A/C] NM_003970 MYOM2 EXON Missense_S601Y exm678083 8 2040174 [T/G] NM_003970 MYOM2 EXON Missense_V610G exm678087 8 2040209 [T/C] NM_003970 MYOM2 EXON Nonsense_R622X exm678094 8 2040288 [A/G] NM_003970 MYOM2 EXON Missense_C648Y exm678100 8 2040338 [A/G] NM_003970 MYOM2 EXON Missense_G665R exm678104 8 2041807 [T/C] NM_003970 MYOM2 EXON Missense_H672Y exm678107 8 2041820 [T/C] NM_003970 MYOM2 EXON Missense_T676M exm678108 8 2041834 [A/C] NM_003970 MYOM2 EXON Missense_I681L exm678112 8 2041869 [A/G] NM_003970 MYOM2 EXON Missense_M692I exm678114 8 2041894 [A/G] NM_003970 MYOM2 EXON Missense_V701I exm678123 8 2044123 [A/G] NM_003970 MYOM2 EXON Missense_N721S exm678130 8 2044180 [T/C] NM_003970 MYOM2 EXON Missense_S740L exm678133 8 2044203 [A/G] NM_003970 MYOM2 EXON Missense_D748N exm678139 8 2046700 [T/C] NM_003970 MYOM2 EXON Missense_T776M exm678142 8 2046729 [A/G] NM_003970 MYOM2 EXON Missense_A786T exm678147 8 2046747 [A/G] NM_003970 MYOM2 EXON Missense_G792S exm678152 8 2046805 [T/C] NM_003970 MYOM2 EXON Missense_P811L exm678158 8 2048684 [T/C] NM_003970 MYOM2 EXON Missense_T820M exm678161 8 2048729 [T/C] NM_003970 MYOM2 EXON Missense_A835V exm678172 8 2048831 [A/G] NM_003970 MYOM2 EXON Missense_N869S exm678178 8 2050520 [A/G] NM_003970 MYOM2 EXON Missense_V895M exm678192 8 2054061 [A/G] NM_003970 MYOM2 EXON Missense_E922K exm678194 8 2054077 [A/G] NM_003970 MYOM2 EXON Missense_Y927C exm678195 8 2054083 [G/C] NM_003970 MYOM2 EXON Missense_G929A exm678197 8 2054109 [A/G] NM_003970 MYOM2 EXON Missense_A938T exm678202 8 2054159 [C/G] NM_003970 MYOM2 EXON Missense_E954D exm678217 8 2054361 [T/C] NM_003970 MYOM2 EXON Missense_S991F exm678219 8 2054382 [A/C] NM_003970 MYOM2 EXON Missense_P998Q exm678223 8 2056578 [A/G] NM_003970 MYOM2 EXON Synonymous_E1000E exm678226 8 2056585 [T/C] NM_003970 MYOM2 EXON Missense_R1003C exm678227 8 2056586 [A/G] NM_003970 MYOM2 EXON Missense_R1003H exm2246729 8 2057208 [A/T] NM_003970 MYOM2 EXON Missense_L1022F exm678239 8 2057283 [A/C] NM_003970 MYOM2 EXON Nonsense_Y1047X exm678248 8 2063853 [T/G] NM_003970 MYOM2 EXON Missense_D1094E exm678249 8 2063891 [G/C] NM_003970 MYOM2 EXON Missense_G1107A exm678252 8 2064065 [A/C] NM_003970 MYOM2 EXON Missense_K1127N exm678253 8 2064066 [T/C] NM_003970 MYOM2 EXON Nonsense_Q1128X exm678254 8 2064067 [A/G] NM_003970 MYOM2 EXON Missense_Q1128R exm678269 8 2071157 [A/C] NM_003970 MYOM2 EXON Missense_K1162N exm678270 8 2071174 [T/C] NM_003970 MYOM2 EXON Missense_V1168A exm678274 8 2071198 [G/C] NM_003970 MYOM2 EXON Missense_P1176R exm678281 8 2071459 [G/C] NM_003970 MYOM2 EXON Missense_A1200G exm2168691 8 2077113 [A/G] NM_003970 MYOM2 Silent exm678296 8 2077127 [T/C] NM_003970 MYOM2 EXON Missense_S1236L exm2168694 8 2077177 [A/G] NM_003970 MYOM2 EXON Missense_M1253V exm678300 8 2077200 [A/G] NM_003970 MYOM2 EXON Missense_M1260I exm678310 8 2088697 [G/C] NM_003970 MYOM2 EXON Missense_E1284D exm678312 8 2088717 [T/G] NM_003970 MYOM2 EXON Missense_C1291F exm678313 8 2088723 [T/C] NM_003970 MYOM2 EXON Missense_P1293L exm678316 8 2088749 [A/G] NM_003970 MYOM2 EXON Missense_T1302A exm678329 8 2089096 [T/C] NM_003970 MYOM2 EXON Missense_F1333L exm678359 8 2092640 [T/G] NM_003970 MYOM2 EXON Missense_W1378L exm678360 8 2092646 [A/G] NM_003970 MYOM2 EXON Missense_K1380R exm2168709 8 2092650 [C/G] NM_003970 MYOM2 EXON Missense_N1381K exm678365 8 2092702 [A/C] NM_003970 MYOM2 EXON Missense_K1399Q exm678368 8 2092718 [T/C] NM_003970 MYOM2 EXON Missense_T1404I exm678369 8 2092729 [A/G] NM_003970 MYOM2 EXON Missense_V1408M exm678373 8 2092770 [G/C] NM_003970 MYOM2 EXON Missense_K1421N exm678379 8 2092835 [T/C] NM_003970 MYOM2 EXON Missense_P1443L exm678389 8 2092894 [A/G] NM_003970 MYOM2 EXON Missense_A1463T exm-rs1036689 8 2112130 [A/G] exm2270810 8 2143418 [T/C] exm2262459 8 2363645 [T/G] exm2270811 8 2595868 [T/C] exm-rs6992851 8 2717835 [T/C] exm2273442 8 2795835 [T/C] NM_033225 CSMD1 EXON Silent exm678411 8 2800096 [T/C] NM_033225 CSMD1 EXON Missense_S3478N exm678425 8 2808730 [T/A] NM_033225 CSMD1 EXON Missense_Q3369H exm678427 8 2808777 [T/C] NM_033225 CSMD1 EXON Missense_V3354I exm678430 8 2813153 [T/C] NM_033225 CSMD1 EXON Missense_K3318E exm678444 8 2818703 [A/G] NM_033225 CSMD1 EXON Missense_T3221M exm2170895 8 2818725 [T/C] NM_033225 CSMD1 EXON Missense_N3214D exm678450 8 2820084 [A/C] NM_033225 CSMD1 EXON Missense_F3178V exm678456 8 2820745 [G/C] NM_033225 CSMD1 EXON Synonymous_L3151L exm2258818 8 2820796 [A/G] NM_033225 CSMD1 EXON Synonymous_I3134I exm678463 8 2820812 [A/G] NM_033225 CSMD1 EXON Missense_L3129P exm678468 8 2820916 [A/G] NM_033225 CSMD1 EXON Synonymous_A3094A exm678470 8 2823317 [A/G] NM_033225 CSMD1 EXON Missense_P3087L exm678474 8 2823344 [T/C] NM_033225 CSMD1 EXON Missense_R3078H exm678475 8 2823348 [T/C] NM_033225 CSMD1 EXON Missense_I3077V exm678488 8 2824257 [T/C] NM_033225 CSMD1 EXON Missense_G2979S exm678490 8 2830672 [G/C] NM_033225 CSMD1 EXON Missense_G2964R exm2170954 8 2830677 [A/G] NM_033225 CSMD1 EXON Missense_L2962P exm678506 8 2832075 [T/C] NM_033225 CSMD1 EXON Missense_V2880I exm678536 8 2855596 [T/C] NM_033225 CSMD1 EXON Missense_G2772S exm678542 8 2857546 [T/C] NM_033225 CSMD1 EXON Missense_V2713M exm678544 8 2857563 [T/C] NM_033225 CSMD1 EXON Missense_N2707S exm678545 8 2857564 [T/C] NM_033225 CSMD1 EXON Missense_N2707D exm678549 8 2857641 [T/C] NM_033225 CSMD1 EXON Missense_G2681D exm678553 8 2876034 [T/C] NM_033225 CSMD1 EXON Missense_N2665S exm678564 8 2886955 [T/C] NM_033225 CSMD1 EXON Missense_G2581S exm678566 8 2909992 [A/G] NM_033225 CSMD1 EXON Missense_T2551M exm678589 8 2944766 [T/C] NM_033225 CSMD1 EXON Missense_I2443V exm678590 8 2944768 [T/C] NM_033225 CSMD1 EXON Missense_G2442D exm678595 8 2949091 [T/C] NM_033225 CSMD1 EXON Missense_R2411H exm678598 8 2949101 [A/T] NM_033225 CSMD1 EXON Missense_L2408I exm678599 8 2949111 [C/G] NM_033225 CSMD1 EXON Missense_R2404S exm678611 8 2954535 [T/C] NM_033225 CSMD1 EXON Missense_R2325Q exm678626 8 2965294 [G/C] NM_033225 CSMD1 EXON Missense_P2261A exm678627 8 2965318 [A/G] NM_033225 CSMD1 EXON Missense_F2253L exm678630 8 2966126 [A/G] NM_033225 CSMD1 EXON Synonymous_H2251H exm678634 8 2966208 [A/G] NM_033225 CSMD1 EXON Missense_T2224M exm678662 8 2999992 [T/A] NM_033225 CSMD1 EXON Missense_Y2079F exm678670 8 3000108 [C/G] NM_033225 CSMD1 EXON Missense_M2040I exm678683 8 3008997 [A/T] NM_033225 CSMD1 EXON Missense_I1985F exm678686 8 3009020 [A/G] NM_033225 CSMD1 EXON Missense_T1977M exm678701 8 3038647 [A/G] NM_033225 CSMD1 EXON Missense_H1904Y exm678745 8 3059201 [G/C] NM_033225 CSMD1 EXON Missense_L1677F exm678748 8 3063043 [A/G] NM_033225 CSMD1 EXON Missense_T1656M exm678753 8 3072048 [A/G] NM_033225 CSMD1 EXON Missense_S1613F exm678755 8 3072060 [T/C] NM_033225 CSMD1 EXON Missense_D1609G exm678769 8 3076897 [T/C] NM_033225 CSMD1 EXON Missense_I1518V exm678772 8 3076959 [T/C] NM_033225 CSMD1 EXON Missense_N1497S exm678784 8 3087687 [C/G] NM_033225 CSMD1 EXON Missense_R1407T exm678788 8 3141695 [T/C] NM_033225 CSMD1 EXON Missense_S1375N exm678790 8 3141720 [T/G] NM_033225 CSMD1 EXON Missense_Q1367K exm678792 8 3141731 [A/G] NM_033225 CSMD1 EXON Missense_S1363L exm678795 8 3141775 [C/G] NM_033225 CSMD1 EXON Missense_W1348C exm678810 8 3165277 [A/G] NM_033225 CSMD1 EXON Missense_P1297L exm678814 8 3165342 [T/C] NM_033225 CSMD1 EXON Synonymous_A1275A exm2276791 8 3165343 [A/G] NM_033225 CSMD1 EXON Missense_A1275V exm678822 8 3165974 [G/C] NM_033225 CSMD1 EXON Missense_R1228T exm678829 8 3166014 [A/C] NM_033225 CSMD1 EXON Missense_V1215L exm2262469 8 3178721 [T/C] NM_033225 CSMD1 Silent exm678832 8 3200869 [T/G] NM_033225 CSMD1 EXON Missense_E1193A exm2258832 8 3205532 [A/G] NM_033225 CSMD1 EXON Synonymous_F1152F exm678858 8 3205682 [A/G] NM_033225 CSMD1 EXON Synonymous_A1102A exm678864 8 3216809 [T/C] NM_033225 CSMD1 EXON Missense_I1057V exm2270812 8 3228952 [T/C] NM_033225 CSMD1 Silent exm2246876 8 3245017 [A/G] NM_033225 CSMD1 EXON Synonymous_D927D exm2246877 8 3245033 [A/G] NM_033225 CSMD1 EXON Missense_A922V exm678893 8 3245054 [T/C] NM_033225 CSMD1 EXON Missense_R915K exm678896 8 3245096 [A/G] NM_033225 CSMD1 EXON Missense_P901L exm678901 8 3245142 [T/C] NM_033225 CSMD1 EXON Missense_G886S exm678914 8 3253783 [C/G] NM_033225 CSMD1 EXON Missense_N842K exm678937 8 3263605 [T/G] NM_033225 CSMD1 EXON Missense_T737N exm678939 8 3263612 [A/C] NM_033225 CSMD1 EXON Missense_S735A exm678946 8 3263737 [T/C] NM_033225 CSMD1 EXON Missense_G693D exm678949 8 3263742 [T/G] NM_033225 CSMD1 EXON Synonymous_T691T exm2246883 8 3265480 [A/C] NM_033225 CSMD1 EXON Missense_R671L exm678973 8 3267040 [A/G] NM_033225 CSMD1 EXON Missense_T550I exm-rs10106960 8 3333127 [T/C] NM_033225 CSMD1 Silent exm678994 8 3351240 [G/C] NM_033225 CSMD1 EXON Missense_K451N exm678997 8 3432493 [C/G] NM_033225 CSMD1 EXON Missense_V440L exm2270813 8 3560723 [T/C] NM_033225 CSMD1 Silent exm-rs1529316 8 3828138 [T/C] NM_033225 CSMD1 Silent exm679054 8 3855584 [A/G] NM_033225 CSMD1 EXON Missense_S220F exm679065 8 3889474 [T/C] NM_033225 CSMD1 EXON Missense_S188N exm679066 8 3889478 [T/C] NM_033225 CSMD1 EXON Missense_V187I exm2258853 8 3889494 [A/G] NM_033225 CSMD1 EXON Synonymous_A181A exm2258860 8 4103130 [A/G] NM_033225 CSMD1 Silent exm-rs4875320 8 4164013 [T/A] NM_033225 CSMD1 Silent exm-rs10503253 8 4180844 [A/C] NM_033225 CSMD1 Silent exm2266709 8 4190874 [A/G] NM_033225 CSMD1 Silent exm679090 8 4494948 [G/C] NM_033225 CSMD1 EXON Missense_S73C exm679099 8 4495047 [T/C] NM_033225 CSMD1 EXON Missense_N40S exm2270814 8 4809686 [T/C] NM_033225 CSMD1 Silent exm-rs4875429 8 4864241 [A/G] exm-rs1454292 8 4926465 [T/C] exm2266710 8 5053822 [A/G] exm2258888 8 5230140 [T/C] exm-rs4875598 8 5461753 [A/G] exm2258901 8 5700776 [T/G] exm2258907 8 5981454 [A/G] exm2262510 8 6218289 [T/C] exm679123 8 6272353 [A/G] NM_001172574,NM_001172575,NM_024596 MCPH1,MCPH1,MCPH1 EXON Missense_D61G,Missense_D61G,Missense_D61G exm679125 8 6272370 [C/G] NM_001172574,NM_001172575,NM_024596 MCPH1,MCPH1,MCPH1 EXON Missense_G67R,Missense_G67R,Missense_G67R exm679136 8 6289091 [C/G] NM_001172574,NM_001172575,NM_024596 MCPH1,MCPH1,MCPH1 EXON Missense_S102T,Missense_S102T,Missense_S102T exm679138 8 6293568 [C/G] NM_001172574,NM_001172575,NM_024596 MCPH1,MCPH1,MCPH1 Silent,Silent,Silent exm2174826 8 6296482 [A/G] NM_001172574,NM_001172575,NM_024596 MCPH1,MCPH1,MCPH1 EXON Missense_V149I,Silent,Missense_V149I exm679148 8 6296550 [T/G] NM_001172574,NM_001172575,NM_024596 MCPH1,MCPH1,MCPH1 EXON Missense_R171S,Silent,Missense_R171S exm679157 8 6299641 [A/G] NM_001172574,NM_001172575,NM_024596 MCPH1,MCPH1,MCPH1 EXON Missense_A212T,Missense_A164T,Missense_A212T exm2174834 8 6299654 [T/C] NM_001172574,NM_001172575,NM_024596 MCPH1,MCPH1,MCPH1 EXON Missense_I216T,Missense_I168T,Missense_I216T exm2247045 8 6299659 [T/C] NM_001172574,NM_001172575,NM_024596 MCPH1,MCPH1,MCPH1 EXON Missense_R218C,Missense_R170C,Missense_R218C exm679159 8 6299671 [T/C] NM_001172574,NM_001172575,NM_024596 MCPH1,MCPH1,MCPH1 EXON Missense_C222R,Missense_C174R,Missense_C222R exm679166 8 6302033 [A/G] NM_001172574,NM_001172575,NM_024596 MCPH1,MCPH1,MCPH1 EXON Missense_I264V,Missense_I216V,Missense_I264V exm679168 8 6302102 [A/C] NM_001172574,NM_001172575,NM_024596 MCPH1,MCPH1,MCPH1 EXON Missense_S287R,Missense_S239R,Missense_S287R exm679169 8 6302106 [A/C] NM_001172574,NM_001172575,NM_024596 MCPH1,MCPH1,MCPH1 EXON Missense_P288H,Missense_P240H,Missense_P288H exm679173 8 6302154 [T/G] NM_001172574,NM_001172575,NM_024596 MCPH1,MCPH1,MCPH1 EXON Missense_R304I,Missense_R256I,Missense_R304I exm679175 8 6302183 [G/C] NM_001172574,NM_001172575,NM_024596 MCPH1,MCPH1,MCPH1 EXON Missense_D314H,Missense_D266H,Missense_D314H exm679179 8 6302232 [A/G] NM_001172574,NM_001172575,NM_024596 MCPH1,MCPH1,MCPH1 EXON Missense_Y330C,Missense_Y282C,Missense_Y330C exm679183 8 6302304 [T/C] NM_001172574,NM_001172575,NM_024596 MCPH1,MCPH1,MCPH1 EXON Missense_V354A,Missense_V306A,Missense_V354A exm679184 8 6302308 [T/G] NM_001172574,NM_001172575,NM_024596 MCPH1,MCPH1,MCPH1 EXON Missense_K355N,Missense_K307N,Missense_K355N exm679186 8 6302379 [T/G] NM_001172574,NM_001172575,NM_024596 MCPH1,MCPH1,MCPH1 EXON Missense_R379I,Missense_R331I,Missense_R379I exm679190 8 6302418 [A/G] NM_001172574,NM_001172575,NM_024596 MCPH1,MCPH1,MCPH1 EXON Missense_D392G,Missense_D344G,Missense_D392G exm679193 8 6302436 [T/C] NM_001172574,NM_001172575,NM_024596 MCPH1,MCPH1,MCPH1 EXON Missense_A398V,Missense_A350V,Missense_A398V exm679196 8 6302469 [T/A] NM_001172574,NM_001172575,NM_024596 MCPH1,MCPH1,MCPH1 EXON Missense_E409V,Missense_E361V,Missense_E409V exm679203 8 6302516 [T/A] NM_001172574,NM_001172575,NM_024596 MCPH1,MCPH1,MCPH1 EXON Missense_Y425N,Missense_Y377N,Missense_Y425N exm679206 8 6302612 [A/G] NM_001172574,NM_001172575,NM_024596 MCPH1,MCPH1,MCPH1 EXON Missense_E457K,Missense_E409K,Missense_E457K exm679214 8 6302723 [A/G] NM_001172574,NM_001172575,NM_024596 MCPH1,MCPH1,MCPH1 EXON Missense_A494T,Missense_A446T,Missense_A494T exm679216 8 6302738 [A/G] NM_001172574,NM_001172575,NM_024596 MCPH1,MCPH1,MCPH1 EXON Missense_V499M,Missense_V451M,Missense_V499M exm679221 8 6302832 [A/T] NM_001172574,NM_001172575,NM_024596 MCPH1,MCPH1,MCPH1 EXON Missense_E530V,Missense_E482V,Missense_E530V exm679224 8 6302922 [T/G] NM_001172574,NM_001172575,NM_024596 MCPH1,MCPH1,MCPH1 EXON Missense_S560I,Missense_S512I,Missense_S560I exm679229 8 6302981 [A/G] NM_001172574,NM_001172575,NM_024596 MCPH1,MCPH1,MCPH1 EXON Missense_S580G,Missense_S532G,Missense_S580G exm679232 8 6303024 [T/C] NM_001172574,NM_001172575,NM_024596 MCPH1,MCPH1,MCPH1 EXON Missense_T594M,Missense_T546M,Missense_T594M exm679240 8 6312702 [T/G] NM_024596 MCPH1 EXON Missense_D622Y exm679246 8 6335130 [A/G] NM_024596 MCPH1 EXON Missense_V651I exm679250 8 6338306 [A/C] NM_024596 MCPH1 EXON Missense_T682N exm679263 8 6357381 [A/G] NM_024596,NM_001118887,NM_001147,NM_001118888 MCPH1,ANGPT2,ANGPT2,ANGPT2 EXON Nonsense_W715X,Silent,Silent,Silent exm679264 8 6357416 [T/C] NM_024596,NM_001118887,NM_001147,NM_001118888 MCPH1,ANGPT2,ANGPT2,ANGPT2 EXON Missense_P727L,Silent,Silent,Silent exm679265 8 6357431 [A/C] NM_024596,NM_001118887,NM_001147,NM_001118888 MCPH1,ANGPT2,ANGPT2,ANGPT2 EXON Missense_H732P,Silent,Silent,Silent exm679266 8 6357435 [G/C] NM_024596,NM_001118887,NM_001147,NM_001118888 MCPH1,ANGPT2,ANGPT2,ANGPT2 EXON Missense_H733Q,Silent,Silent,Silent exm2174875 8 6357438 [A/C] NM_024596,NM_001118887,NM_001147,NM_001118888 MCPH1,ANGPT2,ANGPT2,ANGPT2 EXON Missense_F734L,Silent,Silent,Silent exm679285 8 6371240 [C/G] NM_024596,NM_001118887,NM_001147,NM_001118888 MCPH1,ANGPT2,ANGPT2,ANGPT2 EXON Silent,Missense_L385F,Missense_L386F,Missense_L334F exm679293 8 6372233 [T/C] NM_024596,NM_001118887,NM_001147,NM_001118888 MCPH1,ANGPT2,ANGPT2,ANGPT2 EXON Silent,Missense_V332I,Missense_V333I,Missense_V281I exm679295 8 6372244 [T/A] NM_024596,NM_001118887,NM_001147,NM_001118888 MCPH1,ANGPT2,ANGPT2,ANGPT2 EXON Silent,Missense_E328V,Missense_E329V,Missense_E277V exm679302 8 6372298 [A/G] NM_024596,NM_001118887,NM_001147,NM_001118888 MCPH1,ANGPT2,ANGPT2,ANGPT2 EXON Silent,Missense_A310V,Missense_A311V,Missense_A259V exm679304 8 6377419 [A/G] NM_024596,NM_001118887,NM_001147,NM_001118888 MCPH1,ANGPT2,ANGPT2,ANGPT2 EXON Silent,Missense_T298M,Missense_T299M,Missense_T247M exm679312 8 6377507 [C/G] NM_024596,NM_001118887,NM_001147,NM_001118888 MCPH1,ANGPT2,ANGPT2,ANGPT2 EXON Silent,Missense_D269H,Missense_D270H,Missense_D218H exm679317 8 6378720 [A/T] NM_024596,NM_001118887,NM_001147,NM_001118888 MCPH1,ANGPT2,ANGPT2,ANGPT2 EXON Silent,Missense_T260S,Missense_T260S,Missense_T208S exm2174902 8 6378794 [A/G] NM_024596,NM_001118887,NM_001147,NM_001118888 MCPH1,ANGPT2,ANGPT2,ANGPT2 EXON Silent,Missense_V235A,Missense_V235A,Missense_V183A exm679332 8 6385181 [A/G] NM_024596,NM_001118887,NM_001147,NM_001118888 MCPH1,ANGPT2,ANGPT2,ANGPT2 EXON Silent,Missense_T154M,Missense_T154M,Missense_T102M exm679335 8 6389923 [A/G] NM_024596,NM_001118887,NM_001147,NM_001118888 MCPH1,ANGPT2,ANGPT2,ANGPT2 EXON Silent,Missense_I125T,Missense_I125T,Silent exm679356 8 6420389 [A/G] NM_024596,NM_001118887,NM_001147,NM_001118888 MCPH1,ANGPT2,ANGPT2,ANGPT2 EXON Silent,Missense_R23W,Missense_R23W,Missense_R23W exm2264276 8 6454559 [A/C] NM_024596 MCPH1 Silent exm679383 8 6479161 [A/G] NM_024596 MCPH1 EXON Missense_S801G exm679386 8 6479177 [T/C] NM_024596 MCPH1 EXON Missense_A806V exm679394 8 6500544 [T/C] NM_024596 MCPH1 EXON Missense_P828S exm679396 8 6500561 [T/G] NM_024596 MCPH1 EXON Missense_L833F exm679420 8 6588258 [T/G] NM_018361 AGPAT5 EXON Missense_A106S exm679422 8 6588274 [T/C] NM_018361 AGPAT5 EXON Missense_A111V exm679425 8 6588309 [T/A] NM_018361 AGPAT5 EXON Missense_L123I exm679435 8 6590160 [A/G] NM_018361 AGPAT5 EXON Missense_A162T exm679438 8 6599231 [T/C] NM_018361 AGPAT5 EXON Missense_T182I exm679441 8 6599270 [A/G] NM_018361 AGPAT5 EXON Missense_R195H exm679465 8 6614685 [A/G] NM_018361 AGPAT5 EXON Missense_M291V exm679471 8 6614829 [A/G] NM_018361 AGPAT5 EXON Missense_D339N exm679475 8 6614907 [T/C] NM_018361 AGPAT5 EXON Missense_X365Q exm679477 8 6668746 [T/C] NM_207411 XKR5 EXON Missense_M678I exm679488 8 6668953 [A/G] NM_207411 XKR5 EXON Synonymous_G609G exm679490 8 6668992 [A/G] NM_207411 XKR5 EXON Synonymous_A596A exm2247063 8 6669004 [A/G] NM_207411 XKR5 EXON Synonymous_P592P exm2247065 8 6669164 [A/C] NM_207411 XKR5 EXON Missense_S539I exm679499 8 6669210 [T/C] NM_207411 XKR5 EXON Missense_G524R exm2247066 8 6669303 [A/C] NM_207411 XKR5 EXON Missense_D493Y exm679509 8 6669576 [A/G] NM_207411 XKR5 EXON Missense_H402Y exm679521 8 6673344 [C/G] NM_207411 XKR5 EXON Synonymous_L301L exm679526 8 6673386 [T/C] NM_207411 XKR5 EXON Missense_G288R exm-rs12546593 8 6677842 [T/C] NM_207411 XKR5 Silent exm679533 8 6679429 [A/C] NM_207411 XKR5 EXON Missense_D257Y exm679538 8 6679498 [T/G] NM_207411 XKR5 EXON Missense_T234P exm679539 8 6679504 [T/C] NM_207411 XKR5 EXON Missense_D232N exm679545 8 6681044 [T/A] NM_207411 XKR5 EXON Synonymous_A212A exm679553 8 6681250 [T/C] NM_207411 XKR5 EXON Missense_V144M exm679566 8 6682848 [C/G] NM_207411 XKR5 EXON Missense_S89T exm679568 8 6682861 [T/C] NM_207411 XKR5 EXON Missense_A85T exm679572 8 6690239 [T/C] NM_207411 XKR5 EXON Missense_R81Q exm679573 8 6690276 [T/C] NM_207411 XKR5 EXON Missense_M69V exm679574 8 6690282 [A/G] NM_207411 XKR5 EXON Missense_S67P exm679578 8 6690313 [C/G] NM_207411 XKR5 EXON Missense_W56C exm679579 8 6690345 [T/C] NM_207411 XKR5 EXON Missense_G46R exm679587 8 6690413 [A/G] NM_207411 XKR5 EXON Missense_T23I exm679596 8 6728211 [A/T] NM_005218 DEFB1 EXON Missense_C67S exm679597 8 6728222 [T/G] NM_005218 DEFB1 EXON Missense_K63T exm679599 8 6728230 [T/G] NM_005218 DEFB1 EXON Nonsense_Y60X exm679605 8 6728267 [A/G] NM_005218 DEFB1 EXON Missense_A48V exm679607 8 6728298 [T/C] NM_005218 DEFB1 EXON Missense_V38I exm679608 8 6728299 [A/G] NM_005218 DEFB1 EXON Synonymous_C37C exm679619 8 6735345 [T/C] NM_005218 DEFB1 EXON Missense_C12Y exm2247073 8 6735365 [G/C] NM_005218 DEFB1 EXON Nonsense_Y5X exm679645 8 6783420 [G/C] NM_001926 DEFA6 EXON Missense_D46E exm679648 8 6783437 [A/G] NM_001926 DEFA6 EXON Nonsense_Q41X exm679652 8 6783453 [G/C] NM_001926 DEFA6 EXON Missense_E35D exm679655 8 6783479 [T/C] NM_001926 DEFA6 EXON Missense_D27N exm679667 8 6793585 [A/G] NM_001925 DEFA4 EXON Missense_I84T exm679668 8 6793590 [T/G] NM_001925 DEFA4 EXON Nonsense_C82X exm679669 8 6793618 [T/C] NM_001925 DEFA4 EXON Missense_R73Q exm679670 8 6793619 [A/G] NM_001925 DEFA4 EXON Missense_R73W exm679675 8 6794249 [A/C] NM_001925 DEFA4 Silent exm679678 8 6794295 [A/G] NM_001925 DEFA4 EXON Missense_S43P exm679682 8 6794366 [T/G] NM_001925 DEFA4 EXON Missense_A19E exm679685 8 6794399 [A/G] NM_001925 DEFA4 EXON Missense_A8V exm679690 8 6794433 [T/C] NM_001925 DEFA4 EXON Silent exm2258935 8 6802073 [T/C] exm-rs2738113 8 6829085 [T/G] exm679898 8 7308659 [A/G] NM_058200,NM_058202,NM_058206,NM_058207,NM_016512,NM_058201 SPAG11B,SPAG11B,SPAG11B,SPAG11B,SPAG11B,SPAG11B EXON Silent,Silent,Missense_P40S,Silent,Missense_P93S,Silent exm679901 8 7308674 [T/C] NM_058200,NM_058202,NM_058206,NM_058207,NM_016512,NM_058201 SPAG11B,SPAG11B,SPAG11B,SPAG11B,SPAG11B,SPAG11B EXON Silent,Silent,Missense_V35M,Silent,Missense_V88M,Silent exm2247114 8 7308691 [T/G] NM_058200,NM_058202,NM_058206,NM_058207,NM_016512,NM_058201 SPAG11B,SPAG11B,SPAG11B,SPAG11B,SPAG11B,SPAG11B EXON Silent,Silent,Missense_P29H,Silent,Missense_P82H,Silent exm679908 8 7308718 [T/G] NM_058200,NM_058202,NM_058206,NM_058207,NM_016512,NM_058201 SPAG11B,SPAG11B,SPAG11B,SPAG11B,SPAG11B,SPAG11B EXON Silent,Silent,Missense_H20P,Silent,Missense_H73P,Silent exm679976 8 7680909 [A/G] NM_152250,NM_001040703 DEFB105A,DEFB105B EXON Missense_P36L,Missense_P36L exm679998 8 7718170 [A/G] NM_001081552 SPAG11A EXON Missense_D73N exm680041 8 8175717 [T/C] NM_001080826 SGK223 EXON Missense_G1390R exm680054 8 8175947 [T/C] NM_001080826 SGK223 EXON Missense_R1313H exm680070 8 8176221 [T/C] NM_001080826 SGK223 EXON Missense_G1222S exm680072 8 8176283 [A/C] NM_001080826 SGK223 EXON Missense_R1201L exm680091 8 8176554 [T/C] NM_001080826 SGK223 EXON Missense_A1111T exm680094 8 8176578 [A/G] NM_001080826 SGK223 EXON Missense_R1103W exm680097 8 8176650 [A/G] NM_001080826 SGK223 EXON Missense_P1079S exm680099 8 8176770 [T/C] NM_001080826 SGK223 EXON Missense_V1039M exm2274289 8 8185290 [A/G] NM_001080826 SGK223 EXON Missense_S1001L exm680116 8 8185428 [A/C] NM_001080826 SGK223 EXON Missense_G955V exm680125 8 8185566 [A/T] NM_001080826 SGK223 EXON Missense_Q909L exm680129 8 8185602 [A/G] NM_001080826 SGK223 EXON Missense_A897V exm2258980 8 8185742 [T/C] NM_001080826 SGK223 EXON Synonymous_S850S exm680139 8 8185746 [T/C] NM_001080826 SGK223 EXON Missense_H849R exm680140 8 8185764 [A/G] NM_001080826 SGK223 EXON Missense_P843L exm680150 8 8185914 [A/G] NM_001080826 SGK223 EXON Missense_P793L exm680157 8 8197000 [T/C] NM_001080826 SGK223 EXON Missense_D770N exm680158 8 8197002 [T/C] NM_001080826 SGK223 EXON Missense_S769N exm680165 8 8197151 [T/C] NM_001080826 SGK223 EXON Synonymous_R719R exm680179 8 8233872 [T/G] NM_001080826 SGK223 EXON Missense_S683R exm680182 8 8233941 [T/G] NM_001080826 SGK223 EXON Missense_P660T exm2176726 8 8234051 [T/C] NM_001080826 SGK223 EXON Missense_R623Q exm680195 8 8234072 [A/G] NM_001080826 SGK223 EXON Missense_S616L exm680200 8 8234126 [T/C] NM_001080826 SGK223 EXON Missense_R598Q exm680201 8 8234136 [A/G] NM_001080826 SGK223 EXON Missense_P595S exm680203 8 8234177 [A/G] NM_001080826 SGK223 EXON Missense_I581T exm680204 8 8234178 [A/T] NM_001080826 SGK223 EXON Missense_I581F exm680205 8 8234187 [T/C] NM_001080826 SGK223 EXON Missense_G578S exm680207 8 8234192 [G/C] NM_001080826 SGK223 EXON Missense_S576C exm680212 8 8234219 [A/G] NM_001080826 SGK223 EXON Missense_P567L exm680214 8 8234246 [A/G] NM_001080826 SGK223 EXON Missense_P558L exm680219 8 8234319 [T/G] NM_001080826 SGK223 EXON Missense_S534R exm680234 8 8234490 [T/C] NM_001080826 SGK223 EXON Missense_A477T exm680244 8 8234627 [A/T] NM_001080826 SGK223 EXON Missense_I431K exm680246 8 8234654 [A/G] NM_001080826 SGK223 EXON Missense_P422L exm680248 8 8234682 [T/C] NM_001080826 SGK223 EXON Missense_E413K exm680251 8 8234714 [T/C] NM_001080826 SGK223 EXON Missense_R402Q exm680268 8 8234904 [T/C] NM_001080826 SGK223 EXON Missense_D339N exm680272 8 8234980 [G/C] NM_001080826 SGK223 EXON Missense_S313R exm680283 8 8235085 [C/G] NM_001080826 SGK223 EXON Missense_R278S exm680284 8 8235086 [T/C] NM_001080826 SGK223 EXON Missense_R278K exm680285 8 8235092 [T/C] NM_001080826 SGK223 EXON Missense_R276Q exm2274292 8 8235180 [A/C] NM_001080826 SGK223 EXON Missense_D247Y exm680291 8 8235191 [A/G] NM_001080826 SGK223 EXON Missense_S243L exm680295 8 8235297 [A/G] NM_001080826 SGK223 EXON Missense_R208C exm680296 8 8235321 [A/G] NM_001080826 SGK223 EXON Missense_R200W exm680305 8 8235432 [T/C] NM_001080826 SGK223 EXON Missense_G163S exm680311 8 8235504 [T/C] NM_001080826 SGK223 EXON Missense_V139I exm680317 8 8235551 [A/G] NM_001080826 SGK223 EXON Missense_P123L exm680318 8 8235555 [T/G] NM_001080826 SGK223 EXON Missense_L122I exm680331 8 8239085 [G/C] NM_001080826 SGK223 EXON Missense_P58R exm-rs2979182 8 8325448 [T/C] exm2258990 8 8534192 [T/G] exm680353 8 8560021 [A/C] NM_194284 CLDN23 EXON Missense_N38T exm680368 8 8560326 [A/G] NM_194284 CLDN23 EXON Missense_G140R exm680378 8 8560536 [A/G] NM_194284 CLDN23 EXON Missense_V210M exm680383 8 8560602 [T/C] NM_194284 CLDN23 EXON Missense_P232S exm2258991 8 8560688 [A/G] NM_194284 CLDN23 EXON Synonymous_S260S exm-rs332034 8 8717007 [T/C] NM_004225 MFHAS1 Silent exm680423 8 8747894 [A/G] NM_004225 MFHAS1 EXON Missense_L892P exm680425 8 8747926 [A/C] NM_004225 MFHAS1 EXON Missense_Q881H exm680428 8 8748032 [C/G] NM_004225 MFHAS1 EXON Missense_A846G exm680432 8 8748068 [T/C] NM_004225 MFHAS1 EXON Missense_N834S exm680440 8 8748306 [G/C] NM_004225 MFHAS1 EXON Missense_G755R exm680448 8 8748459 [C/G] NM_004225 MFHAS1 EXON Missense_L704V exm680457 8 8748594 [G/C] NM_004225 MFHAS1 EXON Missense_L659V exm680473 8 8748849 [T/G] NM_004225 MFHAS1 EXON Missense_K574Q exm680488 8 8749041 [T/G] NM_004225 MFHAS1 EXON Missense_R510S exm680516 8 8749589 [T/C] NM_004225 MFHAS1 EXON Missense_D327G exm680534 8 8749895 [A/G] NM_004225 MFHAS1 EXON Missense_A225V exm680535 8 8749920 [A/G] NM_004225 MFHAS1 EXON Missense_R217W exm680538 8 8749944 [T/G] NM_004225 MFHAS1 EXON Missense_L209M exm680545 8 8750019 [G/C] NM_004225 MFHAS1 EXON Missense_R184G exm680563 8 8750333 [G/C] NM_004225 MFHAS1 EXON Missense_P79R exm-rs366178 8 8771154 [A/C] exm680574 8 8860620 [T/C] NM_153332 ERI1 EXON Missense_L16P exm680578 8 8865478 [A/G] NM_153332 ERI1 Silent exm680585 8 8865537 [T/C] NM_153332 ERI1 EXON Missense_S56P exm680598 8 8869129 [T/G] NM_153332 ERI1 EXON Missense_F122C exm680619 8 8875885 [A/G] NM_153332 ERI1 EXON Missense_T221A exm2177302 8 8877904 [A/G] NM_153332 ERI1 EXON Missense_S246N exm680649 8 8998461 [T/C] NM_001201329,NM_024607 PPP1R3B,PPP1R3B EXON Missense_R234Q,Missense_R234Q exm680652 8 8998606 [T/C] NM_001201329,NM_024607 PPP1R3B,PPP1R3B EXON Missense_G186S,Missense_G186S exm2259003 8 8998886 [A/G] NM_001201329,NM_024607 PPP1R3B,PPP1R3B EXON Synonymous_I92I,Synonymous_I92I exm680672 8 8999016 [A/G] NM_001201329,NM_024607 PPP1R3B,PPP1R3B EXON Missense_M49T,Missense_M49T exm680673 8 8999019 [T/C] NM_001201329,NM_024607 PPP1R3B,PPP1R3B EXON Missense_G48E,Missense_G48E exm680675 8 8999039 [T/G] NM_001201329,NM_024607 PPP1R3B,PPP1R3B EXON Missense_S41R,Missense_S41R exm680680 8 8999128 [A/G] NM_001201329,NM_024607 PPP1R3B,PPP1R3B EXON Missense_C12R,Missense_C12R exm2264277 8 9046312 [A/C] exm-rs9987289 8 9183358 [A/G] NR_040039 LOC157273 Silent exm-rs4841132 8 9183596 [A/G] NR_040039 LOC157273 EXON Silent exm-rs6601299 8 9184691 [T/C] NR_040039 LOC157273 Silent exm-rs2126259 8 9185146 [T/C] NR_040039 LOC157273 Silent exm-rs11782386 8 9201787 [T/C] exm2266712 8 9250346 [A/G] exm-rs17150066 8 9310511 [A/G] exm680697 8 9413688 [T/C] NM_003747 TNKS EXON Missense_S80F exm680702 8 9413739 [A/G] NM_003747 TNKS EXON Missense_C97Y exm680728 8 9437705 [A/T] NM_003747 TNKS EXON Missense_Q237L exm2177628 8 9473106 [A/G] NM_003747 TNKS EXON Missense_G305R exm2259018 8 9473429 [T/C] NM_003747 TNKS Silent exm2259022 8 9538250 [A/G] NM_003747 TNKS EXON Synonymous_E349E exm680742 8 9538250 [A/G] NM_003747 TNKS EXON Synonymous_E349E exm680771 8 9577884 [T/A] NM_003747 TNKS EXON Missense_M584L exm680776 8 9584165 [T/C] NM_003747 TNKS EXON Missense_R646C exm680832 8 9609265 [A/C] NM_003747 TNKS EXON Missense_D993E exm680839 8 9610060 [T/G] NM_003747 TNKS EXON Missense_G1026V exm680854 8 9622290 [A/G] NM_003747 TNKS EXON Missense_N1146S exm680855 8 9622299 [A/G] NM_003747 TNKS EXON Missense_R1149Q exm680858 8 9623224 [A/G] NM_003747 TNKS EXON Missense_K1157R exm680861 8 9623278 [A/G] NM_003747 TNKS EXON Missense_N1175S exm680875 8 9634229 [A/G] NM_003747 TNKS EXON Missense_A1323T exm-rs7830613 8 9649769 [T/C] exm2277372 8 9912029 [T/G] NM_012331,NM_001135670 MSRA,MSRA EXON Missense_M1I,Missense_M1I exm-rs7017212 8 10022938 [T/G] NM_012331,NM_001135670,NM_001135671,NM_001199729 MSRA,MSRA,MSRA,MSRA Silent,Silent,Silent,Silent exm680897 8 10065375 [A/G] NM_012331,NM_001135670,NM_001135671,NM_001199729 MSRA,MSRA,MSRA,MSRA EXON Missense_E59K,Missense_E59K,Missense_E16K,Silent exm-rs11775334 8 10071620 [A/G] NM_012331,NM_001135670,NM_001135671,NM_001199729 MSRA,MSRA,MSRA,MSRA Silent,Silent,Silent,Silent exm2159439 8 10102682 [A/G] NM_012331,NM_001135670,NM_001135671,NM_001199729 MSRA,MSRA,MSRA,MSRA EXON Missense_G94S,Silent,Missense_G51S,Missense_G28S exm680908 8 10177398 [T/C] NM_012331,NM_001135670,NM_001135671,NM_001199729 MSRA,MSRA,MSRA,MSRA EXON Missense_R148C,Missense_R108C,Missense_R105C,Missense_R82C exm680913 8 10177444 [T/C] NM_012331,NM_001135670,NM_001135671,NM_001199729 MSRA,MSRA,MSRA,MSRA EXON Missense_P163L,Missense_P123L,Missense_P120L,Missense_P97L exm-rs4335130 8 10186553 [T/C] NM_012331,NM_001135670,NM_001135671,NM_001199729 MSRA,MSRA,MSRA,MSRA Silent,Silent,Silent,Silent exm680920 8 10285689 [G/C] NM_012331,NM_001135670,NM_001135671,NM_001199729 MSRA,MSRA,MSRA,MSRA EXON Missense_T192S,Missense_T152S,Missense_T149S,Missense_T126S exm680925 8 10285725 [T/C] NM_012331,NM_001135670,NM_001135671,NM_001199729 MSRA,MSRA,MSRA,MSRA EXON Missense_A204V,Missense_A164V,Missense_A161V,Missense_A138V exm2258565 8 10316236 [A/G] exm-rs11782819 8 10334781 [T/C] exm680942 8 10383105 [T/G] NM_198464,NM_001197020 PRSS55,PRSS55 EXON Missense_F4V,Missense_F4V exm680945 8 10383138 [A/G] NM_198464,NM_001197020 PRSS55,PRSS55 EXON Missense_G15R,Missense_G15R exm680946 8 10383157 [A/G] NM_198464,NM_001197020 PRSS55,PRSS55 EXON Missense_R21Q,Missense_R21Q exm680949 8 10383205 [A/G] NM_198464,NM_001197020 PRSS55,PRSS55 EXON Missense_G37E,Missense_G37E exm680964 8 10387071 [C/G] NM_198464,NM_001197020 PRSS55,PRSS55 EXON Missense_G70A,Missense_G70A exm680966 8 10387083 [T/C] NM_198464,NM_001197020 PRSS55,PRSS55 EXON Missense_A74V,Missense_A74V exm2246272 8 10388809 [A/G] NM_198464,NM_001197020 PRSS55,PRSS55 EXON Missense_E118K,Missense_E118K exm680979 8 10388824 [A/G] NM_198464,NM_001197020 PRSS55,PRSS55 EXON Missense_V123M,Missense_V123M exm680985 8 10388876 [G/C] NM_198464,NM_001197020 PRSS55,PRSS55 EXON Missense_A140G,Missense_A140G exm680989 8 10388923 [A/G] NM_198464,NM_001197020 PRSS55,PRSS55 EXON Missense_D156N,Missense_D156N exm680992 8 10389016 [T/C] NM_198464,NM_001197020 PRSS55,PRSS55 EXON Missense_R187C,Missense_R187C exm680997 8 10390452 [T/C] NM_198464,NM_001197020 PRSS55,PRSS55 EXON Missense_A212V,Missense_A212V exm2159922 8 10396002 [A/C] NM_198464,NM_001197020 PRSS55,PRSS55 EXON Missense_P253H,Silent exm681006 8 10396016 [G/C] NM_198464,NM_001197020 PRSS55,PRSS55 EXON Missense_P258A,Silent exm681007 8 10396022 [C/G] NM_198464,NM_001197020 PRSS55,PRSS55 EXON Missense_P260A,Silent exm681012 8 10396078 [T/G] NM_198464,NM_001197020 PRSS55,PRSS55 EXON Missense_E278D,Silent exm681016 8 10396146 [T/C] NM_198464,NM_001197020 PRSS55,PRSS55 EXON Missense_L301P,Silent exm681020 8 10396218 [T/C] NM_198464,NM_001197020 PRSS55,PRSS55 EXON Missense_S325L,Silent exm681022 8 10396226 [T/C] NM_198464,NM_001197020 PRSS55,PRSS55 EXON Missense_P328S,Silent exm681028 8 10411495 [T/C] NM_001197020 PRSS55 EXON Missense_S262P exm2160034 8 10464405 [G/C] NM_178857 RP1L1 EXON Missense_X2401Y exm681043 8 10464604 [T/C] NM_178857 RP1L1 EXON Missense_H2335R exm681044 8 10464616 [A/G] NM_178857 RP1L1 EXON Missense_T2331M exm681053 8 10464692 [T/A] NM_178857 RP1L1 EXON Missense_W2306R exm681054 8 10464706 [G/C] NM_178857 RP1L1 EXON Missense_S2301C exm681055 8 10464727 [A/G] NM_178857 RP1L1 EXON Missense_S2294F exm681058 8 10464755 [T/C] NM_178857 RP1L1 EXON Missense_G2285R exm2271029 8 10465063 [T/G] NM_178857 RP1L1 EXON Missense_A2182D exm681095 8 10465088 [T/G] NM_178857 RP1L1 EXON Missense_Q2174K exm681098 8 10465097 [T/C] NM_178857 RP1L1 EXON Missense_E2171K exm2160052 8 10465286 [T/C] NM_178857 RP1L1 EXON Missense_G2108R exm681121 8 10465344 [A/C] NM_178857 RP1L1 EXON Missense_Q2088H exm681133 8 10465490 [A/C] NM_178857 RP1L1 EXON Nonsense_E2040X exm681138 8 10465636 [T/C] NM_178857 RP1L1 EXON Missense_G1991E exm681139 8 10465649 [A/G] NM_178857 RP1L1 EXON Nonsense_Q1987X exm681142 8 10465703 [C/G] NM_178857 RP1L1 EXON Missense_E1969Q exm681154 8 10465787 [A/G] NM_178857 RP1L1 EXON Nonsense_Q1941X exm681155 8 10465814 [T/C] NM_178857 RP1L1 EXON Missense_E1932K exm681159 8 10465895 [T/C] NM_178857 RP1L1 EXON Missense_G1905S exm2160061 8 10465962 [A/C] NM_178857 RP1L1 EXON Missense_E1882D exm681183 8 10466089 [C/G] NM_178857 RP1L1 EXON Missense_A1840G exm681187 8 10466128 [T/C] NM_178857 RP1L1 EXON Missense_G1827E exm681190 8 10466152 [A/G] NM_178857 RP1L1 EXON Missense_A1819V exm681191 8 10466156 [T/C] NM_178857 RP1L1 EXON Missense_A1818T exm681210 8 10466324 [T/C] NM_178857 RP1L1 EXON Missense_E1762K exm681215 8 10466413 [A/G] NM_178857 RP1L1 EXON Missense_P1732L exm681222 8 10466470 [T/G] NM_178857 RP1L1 EXON Missense_T1713N exm681223 8 10466482 [A/G] NM_178857 RP1L1 EXON Missense_A1709V exm681230 8 10466621 [T/C] NM_178857 RP1L1 EXON Missense_V1663M exm681237 8 10466702 [T/C] NM_178857 RP1L1 EXON Missense_E1636K exm681242 8 10466743 [T/C] NM_178857 RP1L1 EXON Missense_R1622Q exm681243 8 10466744 [A/G] NM_178857 RP1L1 EXON Missense_R1622W exm2160074 8 10466771 [T/G] NM_178857 RP1L1 EXON Missense_L1613M exm681252 8 10466813 [C/G] NM_178857 RP1L1 EXON Missense_L1599V exm2160077 8 10466864 [A/G] NM_178857 RP1L1 EXON Missense_R1582W exm681261 8 10466933 [T/C] NM_178857 RP1L1 EXON Missense_E1559K exm681267 8 10466988 [G/C] NM_178857 RP1L1 EXON Missense_E1540D exm681279 8 10467094 [A/G] NM_178857 RP1L1 EXON Missense_S1505L exm681280 8 10467124 [G/C] NM_178857 RP1L1 EXON Missense_P1495R exm681283 8 10467130 [A/G] NM_178857 RP1L1 EXON Missense_A1493V exm681284 8 10467160 [A/G] NM_178857 RP1L1 EXON Missense_A1483V exm681288 8 10467207 [A/C] NM_178857 RP1L1 EXON Missense_R1467S exm681291 8 10467248 [A/G] NM_178857 RP1L1 EXON Missense_P1454S exm681298 8 10467333 [T/G] NM_178857 RP1L1 EXON Missense_D1425E exm2160086 8 10467335 [G/C] NM_178857 RP1L1 EXON Missense_D1425H exm681304 8 10467460 [T/C] NM_178857 RP1L1 EXON Missense_G1383E exm681309 8 10467503 [T/C] NM_178857 RP1L1 EXON Missense_E1369K exm2160088 8 10467517 [C/G] NM_178857 RP1L1 EXON Missense_G1364A exm2160091 8 10467577 [A/G] NM_178857 RP1L1 EXON Missense_T1344I exm681335 8 10467604 [A/C] NM_178857 RP1L1 EXON Missense_G1335V exm681350 8 10467653 [T/C] NM_178857 RP1L1 EXON Missense_A1319T exm681352 8 10467673 [T/C] NM_178857 RP1L1 EXON Missense_G1312E exm681364 8 10467754 [A/G] NM_178857 RP1L1 EXON Missense_A1285V exm681376 8 10467965 [T/C] NM_178857 RP1L1 EXON Missense_V1215I exm681380 8 10467992 [T/C] NM_178857 RP1L1 EXON Missense_G1206S exm681384 8 10468039 [A/G] NM_178857 RP1L1 EXON Missense_T1190M exm681396 8 10468172 [A/G] NM_178857 RP1L1 EXON Missense_R1146W exm681400 8 10468310 [T/C] NM_178857 RP1L1 EXON Missense_V1100M exm681402 8 10468345 [A/G] NM_178857 RP1L1 EXON Missense_A1088V exm681403 8 10468353 [G/C] NM_178857 RP1L1 EXON Missense_I1085M exm681405 8 10468373 [T/C] NM_178857 RP1L1 EXON Missense_V1079M exm681406 8 10468376 [A/G] NM_178857 RP1L1 EXON Missense_R1078W exm681410 8 10468451 [T/C] NM_178857 RP1L1 EXON Missense_E1053K exm681414 8 10468541 [C/G] NM_178857 RP1L1 EXON Missense_E1023Q exm681419 8 10468631 [T/C] NM_178857 RP1L1 EXON Missense_D993N exm681422 8 10468681 [A/G] NM_178857 RP1L1 EXON Missense_A976V exm681423 8 10468685 [A/T] NM_178857 RP1L1 EXON Missense_L975M exm681424 8 10468690 [T/C] NM_178857 RP1L1 EXON Missense_Y973C exm681427 8 10468709 [T/C] NM_178857 RP1L1 EXON Missense_E967K exm681431 8 10468759 [T/C] NM_178857 RP1L1 EXON Missense_R950H exm681448 8 10468964 [A/G] NM_178857 RP1L1 EXON Missense_R882W exm681493 8 10469454 [T/G] NM_178857 RP1L1 EXON Missense_N718K exm681494 8 10469462 [A/G] NM_178857 RP1L1 EXON Missense_S716P exm681498 8 10469530 [T/C] NM_178857 RP1L1 EXON Missense_R693Q exm2258571 8 10469547 [C/G] NM_178857 RP1L1 EXON Synonymous_P687P exm2246300 8 10469632 [T/A] NM_178857 RP1L1 EXON Missense_V659E exm681512 8 10469738 [T/C] NM_178857 RP1L1 EXON Missense_A624T exm681516 8 10469797 [A/G] NM_178857 RP1L1 EXON Missense_A604V exm681519 8 10469813 [T/C] NM_178857 RP1L1 EXON Missense_E599K exm2258572 8 10469817 [A/G] NM_178857 RP1L1 EXON Synonymous_G597G exm681520 8 10469817 [A/G] NM_178857 RP1L1 EXON Synonymous_G597G exm681525 8 10469846 [A/C] NM_178857 RP1L1 EXON Missense_D588Y exm681527 8 10469885 [T/C] NM_178857 RP1L1 EXON Missense_A575T exm681545 8 10470068 [T/C] NM_178857 RP1L1 EXON Missense_G514S exm681547 8 10470130 [T/C] NM_178857 RP1L1 EXON Missense_R493Q exm681549 8 10470148 [A/G] NM_178857 RP1L1 EXON Missense_A487V exm681560 8 10470318 [A/C] NM_178857 RP1L1 EXON Missense_Q430H exm681567 8 10470443 [T/C] NM_178857 RP1L1 EXON Missense_V389M exm681590 8 10470632 [T/C] NM_178857 RP1L1 EXON Missense_K326E exm681600 8 10470709 [A/G] NM_178857 RP1L1 EXON Missense_S300L exm2160147 8 10470721 [A/G] NM_178857 RP1L1 EXON Missense_T296M exm681604 8 10470751 [A/C] NM_178857 RP1L1 EXON Missense_G286V exm681606 8 10470757 [A/G] NM_178857 RP1L1 EXON Missense_P284L exm681607 8 10470758 [C/G] NM_178857 RP1L1 EXON Missense_P284A exm681608 8 10470764 [T/G] NM_178857 RP1L1 EXON Missense_N282H exm681615 8 10470805 [T/G] NM_178857 RP1L1 EXON Missense_P268Q exm681618 8 10473956 [A/C] NM_178857 RP1L1 EXON Missense_G251W exm681623 8 10474042 [T/G] NM_178857 RP1L1 EXON Missense_H222P exm681624 8 10474055 [A/C] NM_178857 RP1L1 EXON Missense_V218L exm681632 8 10480101 [A/G] NM_178857 RP1L1 Silent exm681637 8 10480144 [A/G] NM_178857 RP1L1 EXON Missense_R190C exm681638 8 10480156 [A/C] NM_178857 RP1L1 EXON Missense_S186A exm681640 8 10480165 [T/C] NM_178857 RP1L1 EXON Missense_G183S exm681647 8 10480186 [T/C] NM_178857 RP1L1 EXON Missense_R176G exm681648 8 10480189 [T/C] NM_178857 RP1L1 EXON Missense_T175A exm2258573 8 10480211 [T/C] NM_178857 RP1L1 EXON Synonymous_T167T exm681649 8 10480211 [T/C] NM_178857 RP1L1 EXON Synonymous_T167T exm681652 8 10480224 [T/C] NM_178857 RP1L1 EXON Missense_R163H exm681653 8 10480225 [G/C] NM_178857 RP1L1 EXON Missense_R163G exm681657 8 10480257 [T/C] NM_178857 RP1L1 EXON Missense_R152Q exm681666 8 10480305 [T/C] NM_178857 RP1L1 EXON Missense_R136H exm681674 8 10480360 [A/G] NM_178857 RP1L1 EXON Missense_R118W exm681676 8 10480375 [A/G] NM_178857 RP1L1 EXON Missense_P113S exm681678 8 10480377 [G/C] NM_178857 RP1L1 EXON Missense_T112S exm681684 8 10480450 [A/G] NM_178857 RP1L1 EXON Missense_H88Y exm681693 8 10480495 [A/G] NM_178857 RP1L1 EXON Missense_P73S exm681696 8 10480500 [T/C] NM_178857 RP1L1 EXON Missense_R71H exm681697 8 10480501 [A/G] NM_178857 RP1L1 EXON Missense_R71C exm681703 8 10480522 [A/G] NM_178857 RP1L1 EXON Missense_L64F exm681707 8 10480543 [T/C] NM_178857 RP1L1 EXON Missense_A57T exm2160174 8 10480546 [A/G] NM_178857 RP1L1 EXON Missense_R56C exm681712 8 10480582 [G/C] NM_178857 RP1L1 EXON Missense_P44A exm681715 8 10480635 [A/G] NM_178857 RP1L1 EXON Missense_S26L exm2160179 8 10480730 [A/G] NM_178857 RP1L1 EXON Silent exm2262393 8 10487222 [T/C] NM_178857 RP1L1 Silent exm681728 8 10530218 [T/C] NM_001040032 C8orf74 EXON Missense_L15F exm681729 8 10532162 [G/C] NM_001040032 C8orf74 EXON Missense_Q19E exm681730 8 10532169 [A/G] NM_001040032 C8orf74 EXON Missense_R21Q exm681735 8 10532237 [A/C] NM_001040032 C8orf74 EXON Missense_L44M exm681736 8 10532255 [A/G] NM_001040032 C8orf74 EXON Missense_E50K exm2258576 8 10555191 [A/G] NM_001040032 C8orf74 EXON Synonymous_L108L exm681751 8 10555226 [A/G] NM_001040032 C8orf74 EXON Missense_R120H exm681761 8 10555297 [A/G] NM_001040032 C8orf74 EXON Missense_V144M exm681762 8 10555301 [T/G] NM_001040032 C8orf74 EXON Missense_C145F exm681763 8 10555334 [T/G] NM_001040032 C8orf74 EXON Missense_G156V exm681764 8 10555350 [C/G] NM_001040032 C8orf74 EXON Missense_L161F exm681779 8 10557755 [A/G] NM_001040032 C8orf74 EXON Missense_S220N exm681780 8 10557760 [A/G] NM_001040032 C8orf74 EXON Missense_I222V exm681791 8 10557965 [T/C] NM_001040032 C8orf74 EXON Missense_A290V exm681798 8 10583279 [A/G] NM_031439 SOX7 EXON Missense_A379V exm681804 8 10583352 [T/C] NM_031439 SOX7 EXON Missense_V355I exm681807 8 10583367 [A/C] NM_031439 SOX7 EXON Missense_A350S exm681817 8 10583616 [T/C] NM_031439 SOX7 EXON Missense_G267S exm681831 8 10583778 [C/G] NM_031439 SOX7 EXON Missense_L213V exm681844 8 10583964 [T/C] NM_031439 SOX7 EXON Missense_G151S exm681862 8 10587741 [G/C] NM_031439 SOX7 EXON Missense_P68R exm681870 8 10622930 [T/C] NM_017884 PINX1 EXON Missense_K323R exm681871 8 10622935 [G/C] NM_017884 PINX1 EXON Missense_K321N exm681873 8 10622954 [T/G] NM_017884 PINX1 EXON Missense_E315A exm681879 8 10623104 [T/C] NM_017884 PINX1 EXON Missense_C265Y exm681884 8 10623135 [T/C] NM_017884 PINX1 EXON Missense_A255T exm681886 8 10623138 [T/A] NM_017884 PINX1 EXON Missense_S254C exm681887 8 10623141 [A/T] NM_017884 PINX1 EXON Nonsense_K253X exm681891 8 10623240 [T/C] NM_017884 PINX1 EXON Missense_T220A exm681893 8 10623254 [A/C] NM_017884 PINX1 EXON Missense_R215I exm681896 8 10623280 [G/C] NM_017884 PINX1 EXON Missense_Q206H exm681905 8 10623423 [T/C] NM_017884 PINX1 EXON Missense_D159N exm681908 8 10677726 [T/C] NM_017884 PINX1 EXON Missense_R150G exm-rs11776767 8 10683929 [C/G] NM_017884 PINX1 Silent exm681926 8 10689208 [T/C] NM_017884 PINX1 EXON Missense_E90K exm681935 8 10690474 [T/G] NM_017884 PINX1 EXON Missense_Q50H exm2258581 8 10692230 [A/G] NM_017884 PINX1 EXON Synonymous_D25D exm2246316 8 10692265 [T/C] NM_017884 PINX1 EXON Missense_A14T exm681962 8 10755560 [T/C] NM_173683 XKR6 EXON Missense_I610V exm681969 8 10755724 [A/G] NM_173683 XKR6 EXON Missense_T555M exm681973 8 10755749 [T/C] NM_173683 XKR6 EXON Missense_V547I exm681980 8 10755807 [A/C] NM_173683 XKR6 EXON Missense_E527D exm681987 8 10755899 [T/C] NM_173683 XKR6 EXON Missense_V497M exm681992 8 10755931 [A/G] NM_173683 XKR6 EXON Missense_A486V exm681996 8 10756048 [A/G] NM_173683 XKR6 EXON Missense_T447M exm2262400 8 10888096 [T/C] NM_173683 XKR6 Silent exm-rs7819412 8 11045161 [A/G] NM_173683 XKR6 Silent exm682030 8 11058316 [G/C] NM_173683 XKR6 EXON Missense_S178T exm2160885 8 11058478 [G/C] NM_173683 XKR6 EXON Missense_R124P exm-rs7824557 8 11104111 [A/G] exm-rs2251301 8 11119037 [T/C] exm2246344 8 11142437 [A/G] NM_015458 MTMR9 EXON Missense_N14D exm682057 8 11142438 [A/G] NM_015458 MTMR9 EXON Missense_N14S exm682075 8 11152760 [T/G] NM_015458 MTMR9 EXON Missense_Q80H exm2160940 8 11157598 [A/G] NM_015458 MTMR9 EXON Missense_I120V exm2160946 8 11162449 [G/C] NM_015458 MTMR9 EXON Missense_L173V exm682094 8 11162452 [T/C] NM_015458 MTMR9 EXON Missense_R174W exm682096 8 11162477 [A/G] NM_015458 MTMR9 EXON Missense_G182E exm682111 8 11163903 [A/C] NM_015458 MTMR9 EXON Missense_K266Q exm682116 8 11167105 [A/C] NM_015458 MTMR9 EXON Missense_D293E exm682119 8 11167134 [A/G] NM_015458 MTMR9 EXON Missense_N303S exm682120 8 11167148 [A/G] NM_015458 MTMR9 EXON Missense_I308V exm682133 8 11172500 [T/C] NM_015458 MTMR9 EXON Missense_A347V exm682136 8 11172536 [G/C] NM_015458 MTMR9 EXON Missense_R359P exm682138 8 11172568 [A/C] NM_015458 MTMR9 EXON Missense_L370M exm682149 8 11174306 [G/C] NM_015458 MTMR9 EXON Missense_C413S exm682160 8 11177252 [G/C] NM_015458 MTMR9 EXON Missense_P464R exm682171 8 11180145 [T/C] NM_015458 MTMR9 EXON Missense_R500C exm682173 8 11180152 [A/G] NM_015458 MTMR9 EXON Missense_N502S exm2258593 8 11188945 [G/C] NM_054028 SLC35G5 EXON Synonymous_L110L exm682226 8 11189033 [A/G] NM_054028 SLC35G5 EXON Missense_V140I exm682229 8 11189042 [A/G] NM_054028 SLC35G5 EXON Missense_A143T exm2246347 8 11189139 [G/C] NM_054028 SLC35G5 EXON Missense_P175R exm-rs2002030 8 11276542 [T/C] NR_026814 C8orf12 Silent exm682303 8 11282055 [A/G] NR_026814,NM_053279 C8orf12,FAM167A EXON Silent,Missense_R158C exm682312 8 11282144 [A/G] NR_026814,NM_053279 C8orf12,FAM167A EXON Silent,Missense_T128M exm682313 8 11301550 [A/C] NM_053279 FAM167A EXON Missense_R124M exm682318 8 11301601 [G/C] NM_053279 FAM167A EXON Missense_T107S exm682320 8 11301625 [G/C] NM_053279 FAM167A EXON Missense_S99T exm682324 8 11301648 [T/G] NM_053279 FAM167A EXON Missense_H91Q exm682329 8 11301733 [A/G] NM_053279 FAM167A EXON Missense_P63L exm682330 8 11301753 [A/C] NM_053279 FAM167A EXON Missense_H56Q exm682335 8 11301845 [A/G] NM_053279 FAM167A EXON Missense_H26Y exm682336 8 11301851 [T/C] NM_053279 FAM167A EXON Missense_D24N exm682338 8 11301857 [G/C] NM_053279 FAM167A EXON Missense_P22A exm-rs13277113 8 11349186 [A/G] exm-rs2618476 8 11352541 [T/C] NM_001715 BLK Silent exm-rs1600249 8 11359638 [T/G] NM_001715 BLK Silent exm682348 8 11400759 [T/C] NM_001715 BLK EXON Missense_P9L exm2246355 8 11400800 [T/C] NM_001715 BLK EXON Missense_W23R exm682368 8 11403601 [A/G] NM_001715 BLK EXON Missense_H55R exm682369 8 11405542 [G/C] NM_001715 BLK EXON Missense_D59E exm682370 8 11405552 [A/G] NM_001715 BLK EXON Missense_V63M exm682373 8 11405576 [A/G] NM_001715 BLK EXON Missense_A71T exm682374 8 11405588 [C/G] NM_001715 BLK EXON Missense_R75G exm682382 8 11406598 [T/C] NM_001715 BLK EXON Missense_F112S exm682397 8 11412318 [A/G] NM_001715 BLK EXON Missense_R180H exm682402 8 11412353 [G/C] NM_001715 BLK EXON Missense_R192G exm682409 8 11412895 [T/C] NM_001715 BLK EXON Missense_P225L exm682415 8 11412934 [A/G] NM_001715 BLK EXON Missense_R238Q exm682426 8 11414277 [T/C] NM_001715 BLK EXON Missense_R295W exm682431 8 11414316 [A/G] NM_001715 BLK EXON Missense_I308V exm682437 8 11415498 [T/A] NM_001715 BLK EXON Missense_D327V exm2246356 8 11418838 [T/C] NM_001715 BLK EXON Missense_R353C exm682456 8 11418856 [T/C] NM_001715 BLK EXON Missense_R359C exm682474 8 11421448 [A/G] NM_001715 BLK EXON Missense_R450H exm682475 8 11421450 [A/G] NM_001715 BLK EXON Missense_G451S exm2264279 8 11502934 [A/C] exm-rs7824704 8 11513313 [T/C] exm682525 8 11614483 [T/C] NM_002052 GATA4 EXON Missense_A346V exm682533 8 11614552 [T/G] NM_002052 GATA4 EXON Missense_G369V exm682535 8 11614569 [A/G] NM_002052 GATA4 EXON Missense_G375R exm682536 8 11614575 [A/G] NM_002052 GATA4 EXON Missense_S377G exm682538 8 11614584 [A/G] NM_002052 GATA4 EXON Missense_V380M exm2276000 8 11615875 [A/C] NM_002052 GATA4 EXON Missense_P407Q exm682545 8 11615887 [T/C] NM_002052 GATA4 EXON Missense_A411V exm682548 8 11615928 [A/G] NM_002052 GATA4 EXON Missense_D425N exm682565 8 11628991 [A/G] NM_001135747,NM_145043,NM_001135746,NM_001135748 NEIL2,NEIL2,NEIL2,NEIL2 EXON Silent,Missense_H12R,Missense_H12R,Missense_H12R exm682569 8 11629033 [C/G] NM_001135747,NM_145043,NM_001135746,NM_001135748 NEIL2,NEIL2,NEIL2,NEIL2 EXON Silent,Missense_G26A,Missense_G26A,Missense_G26A exm682571 8 11629059 [A/G] NM_001135747,NM_145043,NM_001135746,NM_001135748 NEIL2,NEIL2,NEIL2,NEIL2 EXON Silent,Missense_A35T,Missense_A35T,Missense_A35T exm682580 8 11637173 [G/C] NM_001135747,NM_145043,NM_001135746,NM_001135748 NEIL2,NEIL2,NEIL2,NEIL2 EXON Missense_P8A,Missense_P69A,Missense_P69A,Silent exm682583 8 11637211 [A/C] NM_001135747,NM_145043,NM_001135746,NM_001135748 NEIL2,NEIL2,NEIL2,NEIL2 EXON Missense_E20D,Missense_E81D,Missense_E81D,Silent exm2161283 8 11637261 [T/C] NM_001135747,NM_145043,NM_001135746,NM_001135748 NEIL2,NEIL2,NEIL2,NEIL2 EXON Missense_L37P,Missense_L98P,Missense_L98P,Silent exm682590 8 11637276 [A/G] NM_001135747,NM_145043,NM_001135746,NM_001135748 NEIL2,NEIL2,NEIL2,NEIL2 EXON Missense_R42Q,Missense_R103Q,Missense_R103Q,Silent exm682591 8 11637290 [A/G] NM_001135747,NM_145043,NM_001135746,NM_001135748 NEIL2,NEIL2,NEIL2,NEIL2 EXON Missense_V47I,Missense_V108I,Missense_V108I,Silent exm682592 8 11637302 [A/G] NM_001135747,NM_145043,NM_001135746,NM_001135748 NEIL2,NEIL2,NEIL2,NEIL2 EXON Missense_E51K,Missense_E112K,Missense_E112K,Silent exm682593 8 11637308 [T/G] NM_001135747,NM_145043,NM_001135746,NM_001135748 NEIL2,NEIL2,NEIL2,NEIL2 EXON Missense_D53Y,Missense_D114Y,Missense_D114Y,Silent exm682596 8 11637336 [T/C] NM_001135747,NM_145043,NM_001135746,NM_001135748 NEIL2,NEIL2,NEIL2,NEIL2 EXON Missense_P62L,Missense_P123L,Missense_P123L,Silent exm-rs6601606 8 11638244 [A/G] NM_001135747,NM_145043,NM_001135746,NM_001135748 NEIL2,NEIL2,NEIL2,NEIL2 Silent,Silent,Silent,Silent exm682608 8 11640722 [T/C] NM_001135747,NM_145043,NM_001135746,NM_001135748 NEIL2,NEIL2,NEIL2,NEIL2 EXON Missense_H107Y,Missense_H168Y,Missense_H168Y,Missense_H52Y exm682622 8 11643499 [A/G] NM_001135747,NM_145043,NM_001135746,NM_001135748 NEIL2,NEIL2,NEIL2,NEIL2 EXON Missense_Y178C,Missense_Y239C,Missense_Y239C,Missense_Y123C exm682624 8 11643528 [A/G] NM_001135747,NM_145043,NM_001135746,NM_001135748 NEIL2,NEIL2,NEIL2,NEIL2 EXON Missense_G188S,Missense_G249S,Missense_G249S,Missense_G133S exm682629 8 11643553 [T/G] NM_001135747,NM_145043,NM_001135746,NM_001135748 NEIL2,NEIL2,NEIL2,NEIL2 EXON Missense_R196L,Missense_R257L,Missense_R257L,Missense_R141L exm682635 8 11643672 [T/G] NM_001135747,NM_145043,NM_001135746,NM_001135748 NEIL2,NEIL2,NEIL2,NEIL2 EXON Missense_V236F,Missense_V297F,Missense_V297F,Missense_V181F exm682637 8 11643693 [A/C] NM_001135747,NM_145043,NM_001135746,NM_001135748 NEIL2,NEIL2,NEIL2,NEIL2 EXON Missense_P243T,Missense_P304T,Missense_P304T,Missense_P188T exm682638 8 11643696 [A/G] NM_001135747,NM_145043,NM_001135746,NM_001135748 NEIL2,NEIL2,NEIL2,NEIL2 EXON Missense_E244K,Missense_E305K,Missense_E305K,Missense_E189K exm682644 8 11643742 [A/C] NM_001135747,NM_145043,NM_001135746,NM_001135748 NEIL2,NEIL2,NEIL2,NEIL2 EXON Missense_P259H,Missense_P320H,Missense_P320H,Missense_P204H exm682667 8 11666337 [A/G] NM_004462 FDFT1 EXON Missense_K45R exm2274294 8 11667238 [C/G] NM_004462 FDFT1 EXON Missense_T87S exm682682 8 11667283 [G/C] NM_004462 FDFT1 EXON Missense_S102C exm682697 8 11679368 [T/C] NM_004462 FDFT1 EXON Missense_S164F exm682709 8 11683630 [A/G] NM_004462 FDFT1 EXON Missense_R203H exm-rs2645424 8 11684463 [A/G] NM_004462 FDFT1 Silent exm682739 8 11689097 [A/G] NM_004462 FDFT1 EXON Missense_R317Q exm2161369 8 11695931 [C/G] NM_004462 FDFT1 EXON Missense_S356C exm2246363 8 11695970 [A/G] NM_004462 FDFT1 EXON Missense_Q369R exm2161374 8 11696115 [C/G] NM_004462 FDFT1 EXON Missense_H417Q exm2273443 8 11702375 [A/G] NM_147782,NM_147781,NM_147780,NM_001908,NM_147783 CTSB,CTSB,CTSB,CTSB,CTSB EXON Silent,Silent,Silent,Silent,Silent exm2273444 8 11702542 [T/C] NM_147782,NM_147781,NM_147780,NM_001908,NM_147783 CTSB,CTSB,CTSB,CTSB,CTSB EXON Silent,Silent,Silent,Silent,Silent exm682771 8 11702653 [T/G] NM_147782,NM_147781,NM_147780,NM_001908,NM_147783 CTSB,CTSB,CTSB,CTSB,CTSB EXON Missense_Q334P,Missense_Q334P,Missense_Q334P,Missense_Q334P,Missense_Q334P exm2161379 8 11702705 [T/C] NM_147782,NM_147781,NM_147780,NM_001908,NM_147783 CTSB,CTSB,CTSB,CTSB,CTSB EXON Missense_D317N,Missense_D317N,Missense_D317N,Missense_D317N,Missense_D317N exm682779 8 11703241 [C/G] NM_147782,NM_147781,NM_147780,NM_001908,NM_147783 CTSB,CTSB,CTSB,CTSB,CTSB EXON Missense_G284A,Missense_G284A,Missense_G284A,Missense_G284A,Missense_G284A exm682782 8 11703272 [A/T] NM_147782,NM_147781,NM_147780,NM_001908,NM_147783 CTSB,CTSB,CTSB,CTSB,CTSB EXON Missense_M274L,Missense_M274L,Missense_M274L,Missense_M274L,Missense_M274L exm2161392 8 11704584 [A/G] NM_147782,NM_147781,NM_147780,NM_001908,NM_147783 CTSB,CTSB,CTSB,CTSB,CTSB EXON Missense_S257L,Missense_S257L,Missense_S257L,Missense_S257L,Missense_S257L exm682788 8 11704593 [G/C] NM_147782,NM_147781,NM_147780,NM_001908,NM_147783 CTSB,CTSB,CTSB,CTSB,CTSB EXON Missense_S254C,Missense_S254C,Missense_S254C,Missense_S254C,Missense_S254C exm682789 8 11704609 [A/C] NM_147782,NM_147781,NM_147780,NM_001908,NM_147783 CTSB,CTSB,CTSB,CTSB,CTSB EXON Missense_V249L,Missense_V249L,Missense_V249L,Missense_V249L,Missense_V249L exm682792 8 11704617 [T/G] NM_147782,NM_147781,NM_147780,NM_001908,NM_147783 CTSB,CTSB,CTSB,CTSB,CTSB EXON Missense_N246T,Missense_N246T,Missense_N246T,Missense_N246T,Missense_N246T exm682793 8 11704619 [T/G] NM_147782,NM_147781,NM_147780,NM_001908,NM_147783 CTSB,CTSB,CTSB,CTSB,CTSB EXON Missense_K245N,Missense_K245N,Missense_K245N,Missense_K245N,Missense_K245N exm682796 8 11704645 [T/C] NM_147782,NM_147781,NM_147780,NM_001908,NM_147783 CTSB,CTSB,CTSB,CTSB,CTSB EXON Missense_K237E,Missense_K237E,Missense_K237E,Missense_K237E,Missense_K237E exm2161419 8 11705579 [T/C] NM_147782,NM_147781,NM_147780,NM_001908,NM_147783 CTSB,CTSB,CTSB,CTSB,CTSB EXON Missense_V177I,Missense_V177I,Missense_V177I,Missense_V177I,Missense_V177I exm682857 8 11706672 [A/G] NM_147782,NM_147781,NM_147780,NM_001908,NM_147783 CTSB,CTSB,CTSB,CTSB,CTSB EXON Missense_A110V,Missense_A110V,Missense_A110V,Missense_A110V,Missense_A110V exm682866 8 11708421 [A/G] NM_147782,NM_147781,NM_147780,NM_001908,NM_147783 CTSB,CTSB,CTSB,CTSB,CTSB EXON Missense_P94L,Missense_P94L,Missense_P94L,Missense_P94L,Missense_P94L exm682868 8 11708430 [A/G] NM_147782,NM_147781,NM_147780,NM_001908,NM_147783 CTSB,CTSB,CTSB,CTSB,CTSB EXON Missense_P91L,Missense_P91L,Missense_P91L,Missense_P91L,Missense_P91L exm2161430 8 11708479 [T/C] NM_147782,NM_147781,NM_147780,NM_001908,NM_147783 CTSB,CTSB,CTSB,CTSB,CTSB EXON Missense_T75A,Missense_T75A,Missense_T75A,Missense_T75A,Missense_T75A exm682875 8 11710174 [T/C] NM_147782,NM_147781,NM_147780,NM_001908,NM_147783 CTSB,CTSB,CTSB,CTSB,CTSB EXON Missense_S53G,Missense_S53G,Missense_S53G,Missense_S53G,Missense_S53G exm2161434 8 11710185 [T/C] NM_147782,NM_147781,NM_147780,NM_001908,NM_147783 CTSB,CTSB,CTSB,CTSB,CTSB EXON Missense_N49S,Missense_N49S,Missense_N49S,Missense_N49S,Missense_N49S exm682881 8 11710838 [T/C] NM_147782,NM_147781,NM_147780,NM_001908,NM_147783 CTSB,CTSB,CTSB,CTSB,CTSB EXON Synonymous_Q42Q,Synonymous_Q42Q,Synonymous_Q42Q,Synonymous_Q42Q,Synonymous_Q42Q exm682884 8 11710876 [C/G] NM_147782,NM_147781,NM_147780,NM_001908,NM_147783 CTSB,CTSB,CTSB,CTSB,CTSB EXON Missense_L30V,Missense_L30V,Missense_L30V,Missense_L30V,Missense_L30V exm682886 8 11710887 [A/G] NM_147782,NM_147781,NM_147780,NM_001908,NM_147783 CTSB,CTSB,CTSB,CTSB,CTSB EXON Missense_L26P,Missense_L26P,Missense_L26P,Missense_L26P,Missense_L26P exm682887 8 11710888 [C/G] NM_147782,NM_147781,NM_147780,NM_001908,NM_147783 CTSB,CTSB,CTSB,CTSB,CTSB EXON Missense_L26V,Missense_L26V,Missense_L26V,Missense_L26V,Missense_L26V exm682890 8 11710911 [T/C] NM_147782,NM_147781,NM_147780,NM_001908,NM_147783 CTSB,CTSB,CTSB,CTSB,CTSB EXON Missense_R18Q,Missense_R18Q,Missense_R18Q,Missense_R18Q,Missense_R18Q exm2266593 8 11728994 [A/G] exm682901 8 11831477 [G/C] NM_001033018 DEFB136 EXON Missense_P69R exm682926 8 11839860 [A/G] NM_001033017 DEFB135 EXON Missense_V11M exm682930 8 11839881 [T/C] NM_001033017 DEFB135 EXON Missense_Y18H exm682931 8 11839887 [T/C] NM_001033017 DEFB135 EXON Missense_P20S exm682936 8 11841930 [A/G] NM_001033017 DEFB135 EXON Missense_G22D exm682941 8 11842019 [A/G] NM_001033017 DEFB135 EXON Missense_E52K exm682950 8 11851521 [A/C] NM_001033019 DEFB134 EXON Nonsense_E57X exm683296 8 12594292 [T/C] NM_152271 LONRF1 EXON Missense_V457I exm683299 8 12594410 [A/T] NM_152271 LONRF1 EXON Synonymous_G451G exm683302 8 12594526 [A/G] NM_152271 LONRF1 EXON Missense_S413P exm683306 8 12594637 [T/G] NM_152271 LONRF1 EXON Missense_P376T exm683310 8 12595627 [A/T] NM_152271 LONRF1 EXON Missense_E330D exm683322 8 12600720 [A/T] NM_152271 LONRF1 EXON Missense_I265L exm-rs4831837 8 12711863 [A/G] exm-rs11778591 8 12720349 [A/C] exm683366 8 12870279 [T/C] NM_020844,NM_001099677 KIAA1456,KIAA1456 EXON Missense_R81W,Silent exm683371 8 12870331 [A/G] NM_020844,NM_001099677 KIAA1456,KIAA1456 EXON Missense_R98K,Silent exm2258653 8 12874138 [T/C] NM_020844,NM_001099677 KIAA1456,KIAA1456 Silent,Silent exm683377 8 12878631 [A/G] NM_020844,NM_001099677 KIAA1456,KIAA1456 EXON Missense_N148S,Missense_N22S exm683379 8 12878637 [A/G] NM_020844,NM_001099677 KIAA1456,KIAA1456 EXON Missense_H150R,Missense_H24R exm683386 8 12878732 [A/G] NM_020844,NM_001099677 KIAA1456,KIAA1456 EXON Missense_G182R,Missense_G56R exm683389 8 12878778 [G/C] NM_020844,NM_001099677 KIAA1456,KIAA1456 EXON Missense_C197S,Missense_C71S exm683390 8 12878792 [T/C] NM_020844,NM_001099677 KIAA1456,KIAA1456 EXON Missense_C202R,Missense_C76R exm683391 8 12878807 [T/G] NM_020844,NM_001099677 KIAA1456,KIAA1456 EXON Missense_C207G,Missense_C81G exm683395 8 12878843 [A/C] NM_020844,NM_001099677 KIAA1456,KIAA1456 EXON Missense_P219T,Missense_P93T exm683397 8 12878881 [C/G] NM_020844,NM_001099677 KIAA1456,KIAA1456 EXON Missense_K231N,Missense_K105N exm683400 8 12878924 [T/C] NM_020844,NM_001099677 KIAA1456,KIAA1456 EXON Missense_S246P,Missense_S120P exm683404 8 12878943 [T/C] NM_020844,NM_001099677 KIAA1456,KIAA1456 EXON Missense_F252S,Missense_F126S exm683408 8 12878978 [A/C] NM_020844,NM_001099677 KIAA1456,KIAA1456 EXON Missense_Q264K,Missense_Q138K exm683409 8 12878982 [T/C] NM_020844,NM_001099677 KIAA1456,KIAA1456 EXON Missense_I265T,Missense_I139T exm683417 8 12879084 [A/C] NM_020844,NM_001099677 KIAA1456,KIAA1456 EXON Missense_P299Q,Missense_P173Q exm683418 8 12879099 [A/G] NM_020844,NM_001099677 KIAA1456,KIAA1456 EXON Missense_G304E,Missense_G178E exm683423 8 12879157 [G/C] NM_020844,NM_001099677 KIAA1456,KIAA1456 EXON Missense_W323C,Missense_W197C exm683426 8 12879198 [T/A] NM_020844,NM_001099677 KIAA1456,KIAA1456 EXON Missense_H337L,Missense_H211L exm683434 8 12879276 [T/G] NM_020844,NM_001099677 KIAA1456,KIAA1456 EXON Missense_G363V,Missense_G237V exm2162906 8 12879443 [G/C] NM_020844,NM_001099677 KIAA1456,KIAA1456 EXON Missense_E419Q,Missense_E293Q exm683448 8 12879464 [A/G] NM_020844,NM_001099677 KIAA1456,KIAA1456 EXON Missense_E426K,Missense_E300K exm683453 8 12879539 [A/G] NM_020844,NM_001099677 KIAA1456,KIAA1456 EXON Missense_R451G,Missense_R325G exm2262427 8 12913259 [A/C] exm2162916 8 12943382 [T/C] NM_001164271,NM_006094,NM_182643 DLC1,DLC1,DLC1 EXON Missense_V998I,Missense_V1072I,Missense_V1509I exm683484 8 12947789 [A/G] NM_001164271,NM_006094,NM_182643 DLC1,DLC1,DLC1 EXON Missense_S838L,Missense_S912L,Missense_S1349L exm683486 8 12947856 [A/C] NM_001164271,NM_006094,NM_182643 DLC1,DLC1,DLC1 EXON Missense_D816Y,Missense_D890Y,Missense_D1327Y exm683494 8 12947960 [T/C] NM_001164271,NM_006094,NM_182643 DLC1,DLC1,DLC1 EXON Missense_R781Q,Missense_R855Q,Missense_R1292Q exm683503 8 12948941 [T/C] NM_001164271,NM_006094,NM_182643 DLC1,DLC1,DLC1 EXON Synonymous_R736R,Synonymous_R810R,Synonymous_R1247R exm2162932 8 12950194 [T/G] NM_001164271,NM_006094,NM_182643 DLC1,DLC1,DLC1 EXON Missense_T712P,Missense_T786P,Missense_T1223P exm683519 8 12950310 [T/A] NM_001164271,NM_006094,NM_182643 DLC1,DLC1,DLC1 EXON Missense_Q673L,Missense_Q747L,Missense_Q1184L exm683521 8 12950333 [A/G] NM_001164271,NM_006094,NM_182643 DLC1,DLC1,DLC1 EXON Synonymous_Y665Y,Synonymous_Y739Y,Synonymous_Y1176Y exm683533 8 12952379 [T/C] NM_001164271,NM_006094,NM_182643 DLC1,DLC1,DLC1 EXON Missense_E628K,Missense_E702K,Missense_E1139K exm683554 8 12956046 [T/C] NM_001164271,NM_006094,NM_182643 DLC1,DLC1,DLC1 EXON Missense_R499Q,Missense_R573Q,Missense_R1010Q exm683556 8 12956081 [G/C] NM_001164271,NM_006094,NM_182643 DLC1,DLC1,DLC1 EXON Missense_H487Q,Missense_H561Q,Missense_H998Q exm683592 8 12957475 [T/C] NM_001164271,NM_006094,NM_182643 DLC1,DLC1,DLC1 EXON Missense_V280M,Missense_V354M,Missense_V791M exm683594 8 12957498 [T/C] NM_001164271,NM_006094,NM_182643 DLC1,DLC1,DLC1 EXON Missense_N272S,Missense_N346S,Missense_N783S exm683604 8 12957657 [T/C] NM_001164271,NM_006094,NM_182643 DLC1,DLC1,DLC1 EXON Missense_R219Q,Missense_R293Q,Missense_R730Q exm683606 8 12957696 [G/C] NM_001164271,NM_006094,NM_182643 DLC1,DLC1,DLC1 EXON Missense_S206C,Missense_S280C,Missense_S717C exm683607 8 12957699 [A/G] NM_001164271,NM_006094,NM_182643 DLC1,DLC1,DLC1 EXON Missense_I205T,Missense_I279T,Missense_I716T exm683612 8 12957789 [G/C] NM_001164271,NM_006094,NM_182643 DLC1,DLC1,DLC1 EXON Missense_A175G,Missense_A249G,Missense_A686G exm683615 8 12957850 [A/T] NM_001164271,NM_006094,NM_182643 DLC1,DLC1,DLC1 EXON Missense_S155C,Missense_S229C,Missense_S666C exm683634 8 12958116 [T/C] NM_001164271,NM_006094,NM_182643 DLC1,DLC1,DLC1 EXON Missense_S66N,Missense_S140N,Missense_S577N exm683642 8 12958149 [T/G] NM_001164271,NM_006094,NM_182643 DLC1,DLC1,DLC1 EXON Missense_S55Y,Missense_S129Y,Missense_S566Y exm2162976 8 12968315 [T/C] NM_001164271,NM_006094,NM_182643 DLC1,DLC1,DLC1 EXON Silent,Missense_D43N,Missense_D480N exm683681 8 13251126 [A/G] NM_182643,NM_024767 DLC1,DLC1 EXON Missense_T417I,Missense_T417I exm683686 8 13251201 [A/T] NM_182643,NM_024767 DLC1,DLC1 EXON Missense_D392V,Missense_D392V exm683691 8 13258990 [A/G] NM_182643,NM_024767 DLC1,DLC1 EXON Missense_R388W,Missense_R388W exm2163202 8 13259074 [T/C] NM_182643,NM_024767 DLC1,DLC1 EXON Missense_M360V,Missense_M360V exm683699 8 13259100 [T/C] NM_182643,NM_024767 DLC1,DLC1 EXON Missense_R351Q,Missense_R351Q exm-rs7834383 8 13273477 [T/G] NM_182643,NM_024767 DLC1,DLC1 Silent,Silent exm-rs1155204 8 13334842 [T/C] NM_182643,NM_024767 DLC1,DLC1 Silent,Silent exm683703 8 13356569 [A/G] NM_182643,NM_024767 DLC1,DLC1 EXON Missense_R338C,Missense_R338C exm683706 8 13356607 [A/G] NM_182643,NM_024767 DLC1,DLC1 EXON Missense_L325P,Missense_L325P exm683707 8 13356621 [T/G] NM_182643,NM_024767 DLC1,DLC1 EXON Missense_Q320H,Missense_Q320H exm683708 8 13356630 [A/C] NM_182643,NM_024767 DLC1,DLC1 EXON Missense_Q317H,Missense_Q317H exm683709 8 13356655 [T/A] NM_182643,NM_024767 DLC1,DLC1 EXON Missense_K309M,Missense_K309M exm683712 8 13356737 [A/G] NM_182643,NM_024767 DLC1,DLC1 EXON Missense_P282S,Missense_P282S exm683718 8 13356802 [A/G] NM_182643,NM_024767 DLC1,DLC1 EXON Missense_T260I,Missense_T260I exm683721 8 13356812 [A/T] NM_182643,NM_024767 DLC1,DLC1 EXON Missense_F257I,Missense_F257I exm683722 8 13356818 [T/C] NM_182643,NM_024767 DLC1,DLC1 EXON Missense_N255D,Missense_N255D exm683726 8 13356860 [C/G] NM_182643,NM_024767 DLC1,DLC1 EXON Missense_P241A,Missense_P241A exm683731 8 13356962 [T/G] NM_182643,NM_024767 DLC1,DLC1 EXON Missense_K207Q,Missense_K207Q exm683744 8 13357316 [T/C] NM_182643,NM_024767 DLC1,DLC1 EXON Missense_D89N,Missense_D89N exm683747 8 13357331 [T/C] NM_182643,NM_024767 DLC1,DLC1 EXON Missense_D84N,Missense_D84N exm683748 8 13357340 [C/G] NM_182643,NM_024767 DLC1,DLC1 EXON Missense_L81V,Missense_L81V exm683754 8 13357414 [T/C] NM_182643,NM_024767 DLC1,DLC1 EXON Missense_E56G,Missense_E56G exm683757 8 13357444 [T/C] NM_182643,NM_024767 DLC1,DLC1 EXON Missense_K46R,Missense_K46R exm683761 8 13357502 [A/G] NM_182643,NM_024767 DLC1,DLC1 EXON Missense_R27C,Missense_R27C exm2266714 8 13393365 [A/G] exm2270822 8 13401972 [T/C] exm683768 8 13424565 [T/C] NM_001007090 C8orf48 EXON Missense_T22I exm683769 8 13424583 [T/C] NM_001007090 C8orf48 EXON Missense_S28F exm683774 8 13424727 [A/G] NM_001007090 C8orf48 EXON Missense_Y76C exm683776 8 13424767 [C/G] NM_001007090 C8orf48 EXON Missense_N89K exm683780 8 13424840 [T/G] NM_001007090 C8orf48 EXON Missense_V114L exm683785 8 13424925 [A/C] NM_001007090 C8orf48 EXON Missense_K142T exm683792 8 13425156 [A/C] NM_001007090 C8orf48 EXON Missense_K219T exm683793 8 13425176 [A/C] NM_001007090 C8orf48 EXON Missense_L226I exm683795 8 13425228 [A/G] NM_001007090 C8orf48 EXON Missense_R243H exm683799 8 13425353 [T/A] NM_001007090 C8orf48 EXON Missense_L285M exm683802 8 13425428 [A/C] NM_001007090 C8orf48 EXON Missense_P310T exm2264280 8 13660787 [A/C] exm683814 8 13948092 [A/G] NM_139167 SGCZ EXON Missense_S267P exm683817 8 13959916 [T/C] NM_139167 SGCZ EXON Missense_K238R exm683821 8 13959989 [T/A] NM_139167 SGCZ EXON Missense_S214T exm683824 8 13965679 [A/C] NM_139167 SGCZ EXON Missense_D205Y exm683827 8 13965705 [A/G] NM_139167 SGCZ EXON Missense_P196L exm683839 8 14181616 [T/C] NM_139167 SGCZ EXON Missense_R111Q exm2266715 8 14256574 [A/G] NM_139167 SGCZ Silent exm2270823 8 14372503 [T/C] NM_139167 SGCZ Silent exm-rs1903595 8 14389481 [A/G] NM_139167 SGCZ Silent exm683842 8 14412299 [T/G] NM_139167 SGCZ EXON Missense_T59N exm683843 8 14412303 [T/C] NM_139167 SGCZ EXON Missense_V58I exm683847 8 14412390 [A/G] NM_139167 SGCZ EXON Missense_P29S exm2258752 8 14879087 [A/C] NM_139167 SGCZ Silent exm2266716 8 15311877 [A/G] exm683880 8 15480643 [A/G] NM_006765,NM_178234 TUSC3,TUSC3 EXON Missense_I65V,Missense_I65V exm2258753 8 15599587 [A/G] NM_006765,NM_178234 TUSC3,TUSC3 Silent,Silent exm683918 8 15605938 [A/C] NM_006765,NM_178234 TUSC3,TUSC3 EXON Nonsense_S331X,Nonsense_S331X exm-rs3810776 8 15619129 [A/G] NM_006765,NM_178234 TUSC3,TUSC3 Silent,Silent exm2273445 8 15621763 [A/G] NM_006765,NM_178234 TUSC3,TUSC3 EXON Silent,Silent exm2258754 8 15751105 [T/C] exm2270824 8 15776837 [T/C] exm683933 8 15967628 [T/C] NM_138716,NM_138715 MSR1,MSR1 EXON Missense_H378R,Missense_H441R exm683964 8 16007749 [T/C] NM_138716,NM_138715,NM_002445 MSR1,MSR1,MSR1 EXON Missense_G324R,Missense_G324R,Missense_G324R exm683970 8 16007800 [A/C] NM_138716,NM_138715,NM_002445 MSR1,MSR1,MSR1 EXON Missense_D307Y,Missense_D307Y,Missense_D307Y exm683973 8 16012590 [T/C] NM_138716,NM_138715,NM_002445 MSR1,MSR1,MSR1 EXON Missense_G294E,Missense_G294E,Missense_G294E exm683975 8 16012594 [A/G] NM_138716,NM_138715,NM_002445 MSR1,MSR1,MSR1 EXON Nonsense_R293X,Nonsense_R293X,Nonsense_R293X exm683977 8 16012615 [T/G] NM_138716,NM_138715,NM_002445 MSR1,MSR1,MSR1 EXON Missense_P286T,Missense_P286T,Missense_P286T exm683978 8 16012620 [T/C] NM_138716,NM_138715,NM_002445 MSR1,MSR1,MSR1 EXON Missense_R284Q,Missense_R284Q,Missense_R284Q exm683982 8 16012648 [G/C] NM_138716,NM_138715,NM_002445 MSR1,MSR1,MSR1 EXON Missense_P275A,Missense_P275A,Missense_P275A exm683996 8 16026056 [T/C] NM_138716,NM_138715,NM_002445 MSR1,MSR1,MSR1 EXON Missense_I181V,Missense_I181V,Missense_I181V exm683997 8 16026077 [A/C] NM_138716,NM_138715,NM_002445 MSR1,MSR1,MSR1 EXON Missense_D174Y,Missense_D174Y,Missense_D174Y exm683999 8 16026115 [T/G] NM_138716,NM_138715,NM_002445 MSR1,MSR1,MSR1 EXON Missense_T161N,Missense_T161N,Missense_T161N exm684000 8 16026131 [A/G] NM_138716,NM_138715,NM_002445 MSR1,MSR1,MSR1 EXON Missense_L156F,Missense_L156F,Missense_L156F exm684007 8 16026243 [T/C] NM_138716,NM_138715,NM_002445 MSR1,MSR1,MSR1 EXON Missense_M118I,Missense_M118I,Missense_M118I exm684009 8 16026259 [A/G] NM_138716,NM_138715,NM_002445 MSR1,MSR1,MSR1 EXON Missense_V113A,Missense_V113A,Missense_V113A exm684016 8 16032710 [A/G] NM_138716,NM_138715,NM_002445 MSR1,MSR1,MSR1 EXON Missense_I68T,Missense_I68T,Missense_I68T exm684021 8 16032753 [T/C] NM_138716,NM_138715,NM_002445 MSR1,MSR1,MSR1 EXON Missense_I54V,Missense_I54V,Missense_I54V exm684025 8 16032791 [T/G] NM_138716,NM_138715,NM_002445 MSR1,MSR1,MSR1 EXON Missense_S41Y,Missense_S41Y,Missense_S41Y exm684026 8 16032804 [T/C] NM_138716,NM_138715,NM_002445 MSR1,MSR1,MSR1 EXON Missense_K37E,Missense_K37E,Missense_K37E exm2167360 8 16035394 [A/C] NM_138716,NM_138715,NM_002445 MSR1,MSR1,MSR1 Silent,Silent,Silent exm684030 8 16035410 [T/C] NM_138716,NM_138715,NM_002445 MSR1,MSR1,MSR1 EXON Missense_A30T,Missense_A30T,Missense_A30T exm684032 8 16035421 [T/C] NM_138716,NM_138715,NM_002445 MSR1,MSR1,MSR1 EXON Missense_R26H,Missense_R26H,Missense_R26H exm684036 8 16035502 [T/C] NM_138716,NM_138715,NM_002445 MSR1,MSR1,MSR1 Silent,Silent,Silent exm2270950 8 16262222 [T/C] exm2270825 8 16437261 [T/C] exm2262451 8 16639069 [T/C] exm684043 8 16850601 [T/C] NM_019851 FGF20 EXON Missense_D206N exm2167398 8 16850694 [G/C] NM_019851 FGF20 EXON Missense_P175A exm684052 8 16853164 [T/C] NM_019851 FGF20 EXON Synonymous_S130S exm2266595 8 16881740 [A/G] exm684071 8 16884796 [C/G] NM_181723 EFHA2 EXON Missense_A3G exm-rs2014286 8 16907125 [A/G] NM_181723 EFHA2 Silent exm684089 8 16921605 [A/G] NM_181723 EFHA2 EXON Missense_R132G exm684095 8 16921735 [A/G] NM_181723 EFHA2 EXON Missense_D175G exm684098 8 16935352 [T/C] NM_181723 EFHA2 EXON Nonsense_R210X exm2246674 8 16935353 [A/G] NM_181723 EFHA2 EXON Missense_R210Q exm684099 8 16935365 [A/G] NM_181723 EFHA2 EXON Missense_E214G exm684100 8 16939231 [A/C] NM_181723 EFHA2 EXON Missense_L226I exm684121 8 16961900 [T/C] NM_181723 EFHA2 EXON Missense_R329C exm684131 8 16963070 [T/C] NM_181723 EFHA2 EXON Missense_R412C exm2167450 8 16973969 [A/G] NM_181723 EFHA2 EXON Missense_V462I exm684180 8 17067453 [C/G] NM_016353 ZDHHC2 EXON Missense_S248T exm684192 8 17067971 [T/A] NM_016353 ZDHHC2 EXON Missense_L311Q exm684193 8 17072823 [T/C] NM_016353 ZDHHC2 EXON Missense_T343M exm684230 8 17125768 [T/C] NM_001145152,NM_152415 VPS37A,VPS37A EXON Synonymous_L43L,Synonymous_L68L exm2167507 8 17132243 [T/C] NM_001145152,NM_152415 VPS37A,VPS37A EXON Synonymous_L115L,Synonymous_L140L exm684241 8 17132337 [G/C] NM_001145152,NM_152415 VPS37A,VPS37A EXON Missense_T146S,Missense_T171S exm684247 8 17132441 [T/A] NM_001145152,NM_152415 VPS37A,VPS37A EXON Missense_I181F,Missense_I206F exm684248 8 17132462 [A/G] NM_001145152,NM_152415 VPS37A,VPS37A EXON Missense_I188V,Missense_I213V exm684249 8 17132466 [T/C] NM_001145152,NM_152415 VPS37A,VPS37A EXON Missense_P189L,Missense_P214L exm684255 8 17133963 [A/C] NM_001145152,NM_152415 VPS37A,VPS37A EXON Missense_L209I,Missense_L234I exm684273 8 17137912 [T/C] NM_001145152,NM_152415 VPS37A,VPS37A EXON Missense_T285I,Missense_T310I exm2167516 8 17137944 [G/C] NM_001145152,NM_152415 VPS37A,VPS37A EXON Missense_L296V,Missense_L321V exm2246677 8 17142033 [A/G] NM_001145152,NM_152415 VPS37A,VPS37A EXON Missense_A316T,Missense_A341T exm-rs3793427 8 17143830 [C/G] NM_001145152,NM_152415 VPS37A,VPS37A Silent,Silent exm684281 8 17143904 [T/G] NM_001145152,NM_152415 VPS37A,VPS37A EXON Missense_A363S,Missense_A388S exm2167520 8 17143910 [T/C] NM_001145152,NM_152415 VPS37A,VPS37A EXON Missense_H365Y,Missense_H390Y exm684301 8 17157605 [A/C] NM_004686 MTMR7 EXON Missense_S583R exm684306 8 17157677 [T/G] NM_004686 MTMR7 EXON Missense_Q559H exm684310 8 17157724 [T/C] NM_004686 MTMR7 EXON Missense_K544E exm684319 8 17159718 [A/G] NM_004686 MTMR7 EXON Missense_M522T exm684322 8 17159766 [T/C] NM_004686 MTMR7 EXON Missense_R506H exm684323 8 17159767 [A/G] NM_004686 MTMR7 EXON Missense_R506C exm2167529 8 17161921 [A/T] NM_004686 MTMR7 EXON Missense_H487L exm684342 8 17163359 [T/C] NM_004686 MTMR7 EXON Missense_N420S exm684348 8 17163465 [A/T] NM_004686 MTMR7 EXON Missense_Y385N exm684357 8 17169085 [T/C] NM_004686 MTMR7 EXON Missense_A346T exm684370 8 17198915 [T/C] NM_004686 MTMR7 EXON Missense_N230S exm684377 8 17206464 [A/G] NM_004686 MTMR7 EXON Missense_H199Y exm2167556 8 17206535 [A/G] NM_004686 MTMR7 EXON Missense_I175T exm684385 8 17218660 [T/C] NM_004686 MTMR7 EXON Missense_Y145C exm684404 8 17228689 [G/C] NM_004686 MTMR7 EXON Missense_S56C exm684409 8 17230644 [C/G] NM_004686 MTMR7 EXON Missense_P44A exm-rs2720508 8 17329827 [T/C] exm684429 8 17396379 [T/C] NM_001008539,NM_001164771,NM_003046 SLC7A2,SLC7A2,SLC7A2 EXON Silent,Nonsense_R16X,Nonsense_R16X exm684430 8 17396380 [A/G] NM_001008539,NM_001164771,NM_003046 SLC7A2,SLC7A2,SLC7A2 EXON Silent,Missense_R16Q,Missense_R16Q exm684433 8 17396415 [G/C] NM_001008539,NM_001164771,NM_003046 SLC7A2,SLC7A2,SLC7A2 EXON Silent,Missense_D28H,Missense_D28H exm684435 8 17396420 [A/C] NM_001008539,NM_001164771,NM_003046 SLC7A2,SLC7A2,SLC7A2 EXON Silent,Missense_S29R,Missense_S29R exm684444 8 17400867 [A/G] NM_001008539,NM_001164771,NM_003046 SLC7A2,SLC7A2,SLC7A2 EXON Missense_A7T,Missense_A47T,Missense_A47T exm684447 8 17400906 [A/G] NM_001008539,NM_001164771,NM_003046 SLC7A2,SLC7A2,SLC7A2 EXON Missense_V20M,Missense_V60M,Missense_V60M exm684450 8 17400978 [A/G] NM_001008539,NM_001164771,NM_003046 SLC7A2,SLC7A2,SLC7A2 EXON Missense_V44I,Missense_V84I,Missense_V84I exm684464 8 17401161 [G/C] NM_001008539,NM_001164771,NM_003046 SLC7A2,SLC7A2,SLC7A2 EXON Missense_V105L,Missense_V145L,Missense_V145L exm2258760 8 17401988 [T/C] NM_001008539,NM_001164771,NM_003046 SLC7A2,SLC7A2,SLC7A2 EXON Synonymous_S135S,Synonymous_S175S,Synonymous_S175S exm684472 8 17402026 [A/G] NM_001008539,NM_001164771,NM_003046 SLC7A2,SLC7A2,SLC7A2 EXON Missense_Q148R,Missense_Q188R,Missense_Q188R exm684476 8 17402114 [A/G] NM_001008539,NM_001164771,NM_003046 SLC7A2,SLC7A2,SLC7A2 EXON Synonymous_A177A,Synonymous_A217A,Synonymous_A217A exm684484 8 17406339 [T/C] NM_001008539,NM_001164771,NM_003046 SLC7A2,SLC7A2,SLC7A2 EXON Missense_S229P,Missense_S269P,Missense_S269P exm684488 8 17407865 [T/C] NM_001008539,NM_001164771,NM_003046 SLC7A2,SLC7A2,SLC7A2 EXON Missense_Y252H,Missense_Y292H,Missense_Y292H exm2246679 8 17409302 [T/A] NM_001008539,NM_001164771,NM_003046 SLC7A2,SLC7A2,SLC7A2 EXON Missense_I288F,Missense_I328F,Missense_I328F exm684494 8 17409321 [T/C] NM_001008539,NM_001164771,NM_003046 SLC7A2,SLC7A2,SLC7A2 EXON Missense_T294M,Missense_T334M,Missense_T334M exm684500 8 17409464 [A/G] NM_001008539,NM_001164771,NM_003046 SLC7A2,SLC7A2,SLC7A2 EXON Missense_A342T,Missense_A382T,Missense_A382T exm684509 8 17412140 [C/G] NM_001008539,NM_001164771,NM_003046 SLC7A2,SLC7A2,SLC7A2 EXON Missense_C376S,Missense_C416S,Silent exm684538 8 17417839 [A/G] NM_001008539,NM_001164771,NM_003046 SLC7A2,SLC7A2,SLC7A2 EXON Missense_Y434C,Missense_Y474C,Missense_Y473C exm684539 8 17417861 [C/G] NM_001008539,NM_001164771,NM_003046 SLC7A2,SLC7A2,SLC7A2 EXON Missense_D441E,Missense_D481E,Missense_D480E exm684549 8 17419461 [A/G] NM_001008539,NM_001164771,NM_003046 SLC7A2,SLC7A2,SLC7A2 EXON Missense_V505M,Missense_V545M,Missense_V544M exm684553 8 17419530 [A/G] NM_001008539,NM_001164771,NM_003046 SLC7A2,SLC7A2,SLC7A2 EXON Missense_A528T,Missense_A568T,Missense_A567T exm684554 8 17419539 [A/G] NM_001008539,NM_001164771,NM_003046 SLC7A2,SLC7A2,SLC7A2 EXON Missense_A531T,Missense_A571T,Missense_A570T exm684556 8 17419551 [A/G] NM_001008539,NM_001164771,NM_003046 SLC7A2,SLC7A2,SLC7A2 EXON Missense_V535I,Missense_V575I,Missense_V574I exm684559 8 17419560 [A/G] NM_001008539,NM_001164771,NM_003046 SLC7A2,SLC7A2,SLC7A2 EXON Missense_V538I,Missense_V578I,Missense_V577I exm684565 8 17421146 [T/C] NM_001008539,NM_001164771,NM_003046 SLC7A2,SLC7A2,SLC7A2 EXON Missense_I569T,Missense_I609T,Missense_I608T exm684568 8 17421188 [G/C] NM_001008539,NM_001164771,NM_003046 SLC7A2,SLC7A2,SLC7A2 EXON Missense_T583S,Missense_T623S,Missense_T622S exm684575 8 17422602 [T/C] NM_001008539,NM_001164771,NM_003046 SLC7A2,SLC7A2,SLC7A2 EXON Missense_P642S,Missense_P682S,Missense_P681S exm684580 8 17434773 [T/G] NM_006207 PDGFRL EXON Missense_W4C exm684581 8 17434795 [G/C] NM_006207 PDGFRL EXON Missense_V12L exm684583 8 17434813 [A/G] NM_006207 PDGFRL EXON Missense_D18N exm684597 8 17447127 [T/C] NM_006207 PDGFRL EXON Missense_M69T exm684600 8 17447158 [A/C] NM_006207 PDGFRL EXON Missense_K79N exm684602 8 17447162 [A/G] NM_006207 PDGFRL EXON Missense_A81T exm684610 8 17447233 [G/C] NM_006207 PDGFRL EXON Missense_S104R exm684619 8 17478560 [T/C] NM_006207 PDGFRL EXON Synonymous_S118S exm684621 8 17478571 [A/G] NM_006207 PDGFRL EXON Missense_N122S exm684622 8 17478576 [T/C] NM_006207 PDGFRL EXON Missense_R124C exm684623 8 17478577 [A/G] NM_006207 PDGFRL EXON Missense_R124H exm684626 8 17478610 [T/C] NM_006207 PDGFRL EXON Missense_S135L exm684633 8 17478685 [T/C] NM_006207 PDGFRL EXON Missense_T160M exm684637 8 17486068 [T/C] NM_006207 PDGFRL EXON Missense_V193A exm684640 8 17486113 [A/G] NM_006207 PDGFRL EXON Missense_H208R exm684646 8 17486166 [A/G] NM_006207 PDGFRL EXON Missense_D226N exm684656 8 17491606 [A/G] NM_006207 PDGFRL EXON Missense_T275A exm684666 8 17491723 [T/G] NM_006207 PDGFRL Silent exm684670 8 17500131 [T/C] NM_006207 PDGFRL EXON Missense_P317S exm684672 8 17500162 [A/T] NM_006207 PDGFRL EXON Missense_I327N exm2273446 8 17503316 [T/G] NM_020749,NM_001001924,NM_001001931,NM_001166393,NM_001001925 MTUS1,MTUS1,MTUS1,MTUS1,MTUS1 EXON Silent,Silent,Silent,Silent,Silent exm684715 8 17510752 [T/G] NM_020749,NM_001001924,NM_001001931,NM_001166393,NM_001001925 MTUS1,MTUS1,MTUS1,MTUS1,MTUS1 EXON Missense_L275F,Missense_L1109F,Missense_L356F,Missense_L254F,Missense_L1055F exm684716 8 17510766 [C/G] NM_020749,NM_001001924,NM_001001931,NM_001166393,NM_001001925 MTUS1,MTUS1,MTUS1,MTUS1,MTUS1 EXON Missense_E271Q,Missense_E1105Q,Missense_E352Q,Missense_E250Q,Missense_E1051Q exm684717 8 17510780 [T/C] NM_020749,NM_001001924,NM_001001931,NM_001166393,NM_001001925 MTUS1,MTUS1,MTUS1,MTUS1,MTUS1 EXON Missense_N266S,Missense_N1100S,Missense_N347S,Missense_N245S,Missense_N1046S exm684718 8 17510784 [T/C] NM_020749,NM_001001924,NM_001001931,NM_001166393,NM_001001925 MTUS1,MTUS1,MTUS1,MTUS1,MTUS1 EXON Missense_I265V,Missense_I1099V,Missense_I346V,Missense_I244V,Missense_I1045V exm684737 8 17513386 [C/G] NM_020749,NM_001001924,NM_001001931,NM_001166393,NM_001001925 MTUS1,MTUS1,MTUS1,MTUS1,MTUS1 EXON Missense_Q198E,Missense_Q1032E,Missense_Q279E,Missense_Q177E,Missense_Q978E exm684741 8 17513412 [A/G] NM_020749,NM_001001924,NM_001001931,NM_001166393,NM_001001925 MTUS1,MTUS1,MTUS1,MTUS1,MTUS1 EXON Missense_I189T,Missense_I1023T,Missense_I270T,Missense_I168T,Missense_I969T exm684746 8 17513425 [A/G] NM_020749,NM_001001924,NM_001001931,NM_001166393,NM_001001925 MTUS1,MTUS1,MTUS1,MTUS1,MTUS1 EXON Missense_R185W,Missense_R1019W,Missense_R266W,Missense_R164W,Missense_R965W exm684748 8 17513445 [A/G] NM_020749,NM_001001924,NM_001001931,NM_001166393,NM_001001925 MTUS1,MTUS1,MTUS1,MTUS1,MTUS1 EXON Missense_T178I,Missense_T1012I,Missense_T259I,Missense_T157I,Missense_T958I exm684751 8 17513472 [T/C] NM_020749,NM_001001924,NM_001001931,NM_001166393,NM_001001925 MTUS1,MTUS1,MTUS1,MTUS1,MTUS1 EXON Missense_R169Q,Missense_R1003Q,Missense_R250Q,Missense_R148Q,Missense_R949Q exm684753 8 17513514 [T/C] NM_020749,NM_001001924,NM_001001931,NM_001166393,NM_001001925 MTUS1,MTUS1,MTUS1,MTUS1,MTUS1 EXON Missense_Y155C,Missense_Y989C,Missense_Y236C,Missense_Y134C,Missense_Y935C exm684757 8 17532727 [A/G] NM_020749,NM_001001924,NM_001001931,NM_001166393,NM_001001925 MTUS1,MTUS1,MTUS1,MTUS1,MTUS1 EXON Missense_S124F,Missense_S958F,Missense_S205F,Missense_S103F,Missense_S904F exm684764 8 17541880 [T/G] NM_020749,NM_001001924,NM_001001931,NM_001166393,NM_001001925 MTUS1,MTUS1,MTUS1,MTUS1,MTUS1 EXON Missense_K98T,Missense_K932T,Missense_K179T,Missense_K77T,Missense_K878T exm2167695 8 17541903 [G/C] NM_020749,NM_001001924,NM_001001931,NM_001166393,NM_001001925 MTUS1,MTUS1,MTUS1,MTUS1,MTUS1 EXON Missense_Q90H,Missense_Q924H,Missense_Q171H,Missense_Q69H,Missense_Q870H exm684770 8 17541943 [T/G] NM_020749,NM_001001924,NM_001001931,NM_001166393,NM_001001925 MTUS1,MTUS1,MTUS1,MTUS1,MTUS1 EXON Missense_K77T,Missense_K911T,Missense_K158T,Missense_K56T,Missense_K857T exm684771 8 17541944 [T/G] NM_020749,NM_001001924,NM_001001931,NM_001166393,NM_001001925 MTUS1,MTUS1,MTUS1,MTUS1,MTUS1 EXON Missense_K77Q,Missense_K911Q,Missense_K158Q,Missense_K56Q,Missense_K857Q exm684772 8 17541952 [T/C] NM_020749,NM_001001924,NM_001001931,NM_001166393,NM_001001925 MTUS1,MTUS1,MTUS1,MTUS1,MTUS1 EXON Missense_Y74C,Missense_Y908C,Missense_Y155C,Missense_Y53C,Missense_Y854C exm684778 8 17541997 [A/G] NM_020749,NM_001001924,NM_001001931,NM_001166393,NM_001001925 MTUS1,MTUS1,MTUS1,MTUS1,MTUS1 EXON Missense_A59V,Missense_A893V,Missense_A140V,Missense_A38V,Missense_A839V exm684780 8 17542024 [T/C] NM_020749,NM_001001924,NM_001001931,NM_001166393,NM_001001925 MTUS1,MTUS1,MTUS1,MTUS1,MTUS1 EXON Missense_R50Q,Missense_R884Q,Missense_R131Q,Missense_R29Q,Missense_R830Q exm2258762 8 17548706 [A/G] NM_020749,NM_001001924,NM_001001931,NM_001166393,NM_001001925 MTUS1,MTUS1,MTUS1,MTUS1,MTUS1 Silent,Silent,Silent,Silent,Silent exm684788 8 17554774 [A/G] NM_020749,NM_001001924,NM_001001931,NM_001166393,NM_001001925 MTUS1,MTUS1,MTUS1,MTUS1,MTUS1 EXON Missense_F38S,Silent,Silent,Silent,Silent exm684793 8 17554847 [T/C] NM_020749,NM_001001924,NM_001001931,NM_001166393,NM_001001925 MTUS1,MTUS1,MTUS1,MTUS1,MTUS1 EXON Missense_I14V,Silent,Silent,Silent,Silent exm2167704 8 17570729 [T/G] NM_001001924,NM_001001931,NM_001166393,NM_001001925 MTUS1,MTUS1,MTUS1,MTUS1 EXON Missense_N873H,Missense_N120H,Missense_N18H,Missense_N819H exm2167706 8 17570762 [A/C] NM_001001924,NM_001001931,NM_001166393,NM_001001925 MTUS1,MTUS1,MTUS1,MTUS1 Silent,Silent,Silent,Silent exm684807 8 17573401 [T/G] NM_001001924,NM_001001931,NM_001166393,NM_001001925 MTUS1,MTUS1,MTUS1,MTUS1 EXON Missense_A820D,Missense_A67D,Silent,Missense_A766D exm684812 8 17579278 [A/C] NM_001001924,NM_001001931,NM_001166393,NM_001001925 MTUS1,MTUS1,MTUS1,MTUS1 EXON Silent,Missense_V45L,Silent,Silent exm684818 8 17579332 [A/G] NM_001001924,NM_001001931,NM_001166393,NM_001001925 MTUS1,MTUS1,MTUS1,MTUS1 EXON Silent,Missense_P27S,Silent,Silent exm684832 8 17581213 [A/G] NM_001001924,NM_001001925 MTUS1,MTUS1 EXON Missense_T806I,Silent exm684855 8 17601248 [T/C] NM_001001924,NM_001001925 MTUS1,MTUS1 EXON Missense_G718S,Missense_G718S exm684862 8 17611347 [A/G] NM_001001924,NM_001001925 MTUS1,MTUS1 EXON Missense_P657L,Missense_P657L exm684866 8 17611381 [C/G] NM_001001924,NM_001001925 MTUS1,MTUS1 EXON Missense_E646Q,Missense_E646Q exm684868 8 17611387 [T/G] NM_001001924,NM_001001925 MTUS1,MTUS1 EXON Missense_K644Q,Missense_K644Q exm684871 8 17611422 [A/G] NM_001001924,NM_001001925 MTUS1,MTUS1 EXON Missense_A632V,Missense_A632V exm684874 8 17611488 [A/G] NM_001001924,NM_001001925 MTUS1,MTUS1 EXON Missense_S610L,Missense_S610L exm2167725 8 17611492 [T/G] NM_001001924,NM_001001925 MTUS1,MTUS1 EXON Missense_K609Q,Missense_K609Q exm684876 8 17611519 [T/C] NM_001001924,NM_001001925 MTUS1,MTUS1 EXON Missense_R600G,Missense_R600G exm684877 8 17611522 [A/G] NM_001001924,NM_001001925 MTUS1,MTUS1 EXON Missense_H599Y,Missense_H599Y exm684879 8 17611546 [T/C] NM_001001924,NM_001001925 MTUS1,MTUS1 EXON Missense_T591A,Missense_T591A exm684882 8 17611593 [T/C] NM_001001924,NM_001001925 MTUS1,MTUS1 EXON Missense_H575R,Missense_H575R exm684886 8 17611662 [A/G] NM_001001924,NM_001001925 MTUS1,MTUS1 EXON Missense_V552A,Missense_V552A exm684892 8 17611789 [T/C] NM_001001924,NM_001001925 MTUS1,MTUS1 EXON Missense_V510I,Missense_V510I exm684905 8 17611941 [T/C] NM_001001924,NM_001001925 MTUS1,MTUS1 EXON Missense_R459Q,Missense_R459Q exm684908 8 17611959 [T/G] NM_001001924,NM_001001925 MTUS1,MTUS1 EXON Missense_K453T,Missense_K453T exm684909 8 17611963 [T/C] NM_001001924,NM_001001925 MTUS1,MTUS1 EXON Missense_K452E,Missense_K452E exm684918 8 17612019 [A/G] NM_001001924,NM_001001925 MTUS1,MTUS1 EXON Missense_L433P,Missense_L433P exm684920 8 17612043 [A/G] NM_001001924,NM_001001925 MTUS1,MTUS1 EXON Missense_T425M,Missense_T425M exm684922 8 17612064 [A/C] NM_001001924,NM_001001925 MTUS1,MTUS1 EXON Missense_M418R,Missense_M418R exm684928 8 17612134 [A/C] NM_001001924,NM_001001925 MTUS1,MTUS1 EXON Missense_L395V,Missense_L395V exm684929 8 17612151 [T/C] NM_001001924,NM_001001925 MTUS1,MTUS1 EXON Missense_Q389R,Missense_Q389R exm684938 8 17612318 [A/C] NM_001001924,NM_001001925 MTUS1,MTUS1 EXON Missense_M333I,Missense_M333I exm684939 8 17612326 [T/C] NM_001001924,NM_001001925 MTUS1,MTUS1 EXON Missense_K331E,Missense_K331E exm684944 8 17612387 [C/G] NM_001001924,NM_001001925 MTUS1,MTUS1 EXON Missense_F310L,Missense_F310L exm684957 8 17612518 [A/G] NM_001001924,NM_001001925 MTUS1,MTUS1 EXON Missense_S267P,Missense_S267P exm684959 8 17612526 [T/C] NM_001001924,NM_001001925 MTUS1,MTUS1 EXON Missense_C264Y,Missense_C264Y exm684961 8 17612562 [A/T] NM_001001924,NM_001001925 MTUS1,MTUS1 EXON Missense_Q252L,Missense_Q252L exm684968 8 17612686 [A/C] NM_001001924,NM_001001925 MTUS1,MTUS1 EXON Missense_S211A,Missense_S211A exm684969 8 17612694 [G/C] NM_001001924,NM_001001925 MTUS1,MTUS1 EXON Missense_W208S,Missense_W208S exm684974 8 17612736 [A/C] NM_001001924,NM_001001925 MTUS1,MTUS1 EXON Missense_G194V,Missense_G194V exm684975 8 17612739 [G/C] NM_001001924,NM_001001925 MTUS1,MTUS1 EXON Missense_T193S,Missense_T193S exm684976 8 17612743 [G/C] NM_001001924,NM_001001925 MTUS1,MTUS1 EXON Missense_P192A,Missense_P192A exm684977 8 17612760 [G/C] NM_001001924,NM_001001925 MTUS1,MTUS1 EXON Missense_T186S,Missense_T186S exm684979 8 17612782 [T/C] NM_001001924,NM_001001925 MTUS1,MTUS1 EXON Missense_G179R,Missense_G179R exm684981 8 17612838 [A/G] NM_001001924,NM_001001925 MTUS1,MTUS1 EXON Missense_T160I,Missense_T160I exm684983 8 17612849 [G/C] NM_001001924,NM_001001925 MTUS1,MTUS1 EXON Missense_E156D,Missense_E156D exm684985 8 17612872 [T/C] NM_001001924,NM_001001925 MTUS1,MTUS1 EXON Missense_A149T,Missense_A149T exm684987 8 17612875 [A/G] NM_001001924,NM_001001925 MTUS1,MTUS1 EXON Missense_C148R,Missense_C148R exm684997 8 17613005 [A/C] NM_001001924,NM_001001925 MTUS1,MTUS1 EXON Missense_Q104H,Missense_Q104H exm684998 8 17613010 [T/A] NM_001001924,NM_001001925 MTUS1,MTUS1 EXON Missense_C103S,Missense_C103S exm685003 8 17613094 [T/G] NM_001001924,NM_001001925 MTUS1,MTUS1 EXON Missense_Q75K,Missense_Q75K exm685006 8 17613174 [G/C] NM_001001924,NM_001001925 MTUS1,MTUS1 EXON Missense_S48C,Missense_S48C exm685012 8 17613230 [G/C] NM_001001924,NM_001001925 MTUS1,MTUS1 EXON Nonsense_Y29X,Nonsense_Y29X exm685014 8 17613310 [T/C] NM_001001924,NM_001001925 MTUS1,MTUS1 EXON Missense_D3N,Missense_D3N exm2266717 8 17694702 [A/G] exm-rs13255913 8 17714562 [T/C] exm685023 8 17722162 [T/C] NM_201553,NM_147203,NM_201552,NM_004467 FGL1,FGL1,FGL1,FGL1 EXON Missense_Y293C,Missense_Y293C,Missense_Y293C,Missense_Y293C exm685024 8 17722175 [A/G] NM_201553,NM_147203,NM_201552,NM_004467 FGL1,FGL1,FGL1,FGL1 EXON Missense_H289Y,Missense_H289Y,Missense_H289Y,Missense_H289Y exm685038 8 17726069 [A/C] NM_201553,NM_147203,NM_201552,NM_004467 FGL1,FGL1,FGL1,FGL1 EXON Missense_W256L,Missense_W256L,Missense_W256L,Missense_W256L exm685039 8 17726081 [T/C] NM_201553,NM_147203,NM_201552,NM_004467 FGL1,FGL1,FGL1,FGL1 EXON Missense_D252G,Missense_D252G,Missense_D252G,Missense_D252G exm685041 8 17726088 [T/C] NM_201553,NM_147203,NM_201552,NM_004467 FGL1,FGL1,FGL1,FGL1 EXON Missense_E250K,Missense_E250K,Missense_E250K,Missense_E250K exm685045 8 17726129 [A/G] NM_201553,NM_147203,NM_201552,NM_004467 FGL1,FGL1,FGL1,FGL1 EXON Missense_T236M,Missense_T236M,Missense_T236M,Missense_T236M exm685051 8 17726174 [C/G] NM_201553,NM_147203,NM_201552,NM_004467 FGL1,FGL1,FGL1,FGL1 EXON Missense_P221R,Missense_P221R,Missense_P221R,Missense_P221R exm685056 8 17726202 [T/C] NM_201553,NM_147203,NM_201552,NM_004467 FGL1,FGL1,FGL1,FGL1 EXON Missense_G212R,Missense_G212R,Missense_G212R,Missense_G212R exm685076 8 17731899 [A/G] NM_201553,NM_147203,NM_201552,NM_004467 FGL1,FGL1,FGL1,FGL1 EXON Nonsense_R126X,Nonsense_R126X,Nonsense_R126X,Nonsense_R126X exm685077 8 17731914 [A/T] NM_201553,NM_147203,NM_201552,NM_004467 FGL1,FGL1,FGL1,FGL1 EXON Missense_T121S,Missense_T121S,Missense_T121S,Missense_T121S exm685078 8 17731919 [C/G] NM_201553,NM_147203,NM_201552,NM_004467 FGL1,FGL1,FGL1,FGL1 EXON Missense_G119A,Missense_G119A,Missense_G119A,Missense_G119A exm685082 8 17731944 [A/G] NM_201553,NM_147203,NM_201552,NM_004467 FGL1,FGL1,FGL1,FGL1 EXON Missense_Y111H,Missense_Y111H,Missense_Y111H,Missense_Y111H exm685085 8 17731961 [A/G] NM_201553,NM_147203,NM_201552,NM_004467 FGL1,FGL1,FGL1,FGL1 EXON Missense_P105L,Missense_P105L,Missense_P105L,Missense_P105L exm685086 8 17731968 [A/G] NM_201553,NM_147203,NM_201552,NM_004467 FGL1,FGL1,FGL1,FGL1 EXON Nonsense_Q103X,Nonsense_Q103X,Nonsense_Q103X,Nonsense_Q103X exm685099 8 17739538 [T/C] NM_201553,NM_147203,NM_201552,NM_004467 FGL1,FGL1,FGL1,FGL1 EXON Missense_I72V,Missense_I72V,Missense_I72V,Missense_I72V exm2167775 8 17739546 [T/C] NM_201553,NM_147203,NM_201552,NM_004467 FGL1,FGL1,FGL1,FGL1 EXON Missense_N69S,Missense_N69S,Missense_N69S,Missense_N69S exm685101 8 17739594 [T/C] NM_201553,NM_147203,NM_201552,NM_004467 FGL1,FGL1,FGL1,FGL1 EXON Missense_Q53R,Missense_Q53R,Missense_Q53R,Missense_Q53R exm685105 8 17739624 [T/C] NM_201553,NM_147203,NM_201552,NM_004467 FGL1,FGL1,FGL1,FGL1 EXON Missense_R43Q,Missense_R43Q,Missense_R43Q,Missense_R43Q exm685106 8 17739625 [A/G] NM_201553,NM_147203,NM_201552,NM_004467 FGL1,FGL1,FGL1,FGL1 EXON Missense_R43W,Missense_R43W,Missense_R43W,Missense_R43W exm685111 8 17739639 [A/C] NM_201553,NM_147203,NM_201552,NM_004467 FGL1,FGL1,FGL1,FGL1 EXON Missense_R38L,Missense_R38L,Missense_R38L,Missense_R38L exm685112 8 17739651 [G/C] NM_201553,NM_147203,NM_201552,NM_004467 FGL1,FGL1,FGL1,FGL1 EXON Missense_R34T,Missense_R34T,Missense_R34T,Missense_R34T exm685115 8 17739672 [T/G] NM_201553,NM_147203,NM_201552,NM_004467 FGL1,FGL1,FGL1,FGL1 EXON Missense_A27D,Missense_A27D,Missense_A27D,Missense_A27D exm2167779 8 17739687 [A/G] NM_201553,NM_147203,NM_201552,NM_004467 FGL1,FGL1,FGL1,FGL1 EXON Missense_A22V,Missense_A22V,Missense_A22V,Missense_A22V exm685124 8 17743008 [A/T] NM_201553,NM_147203,NM_201552,NM_004467 FGL1,FGL1,FGL1,FGL1 EXON Missense_E19V,Missense_E19V,Missense_E19V,Missense_E19V exm685125 8 17743020 [A/G] NM_201553,NM_147203,NM_201552,NM_004467 FGL1,FGL1,FGL1,FGL1 EXON Missense_T15I,Missense_T15I,Missense_T15I,Missense_T15I exm685126 8 17743051 [A/T] NM_201553,NM_147203,NM_201552,NM_004467 FGL1,FGL1,FGL1,FGL1 EXON Missense_F5I,Missense_F5I,Missense_F5I,Missense_F5I exm2246692 8 17749317 [G/C] NM_201553,NM_147203,NM_201552,NM_004467 FGL1,FGL1,FGL1,FGL1 Silent,Silent,Silent,Silent exm685138 8 17793188 [G/C] NM_006197 PCM1 EXON Missense_E23D exm685146 8 17794733 [A/G] NM_006197 PCM1 EXON Missense_D63N exm685153 8 17794873 [C/G] NM_006197 PCM1 EXON Missense_F109L exm685159 8 17796382 [A/G] NM_006197 PCM1 EXON Missense_N159S exm2167796 8 17796433 [A/C] NM_006197 PCM1 EXON Missense_A176D exm2246693 8 17796459 [G/C] NM_006197 PCM1 EXON Missense_Q185E exm685166 8 17797225 [A/G] NM_006197 PCM1 EXON Missense_R213H exm685184 8 17804719 [A/G] NM_006197 PCM1 EXON Missense_M270V exm685185 8 17804768 [T/C] NM_006197 PCM1 EXON Missense_M286T exm685186 8 17804798 [T/G] NM_006197 PCM1 EXON Missense_L296R exm685189 8 17804833 [G/C] NM_006197 PCM1 EXON Missense_H308D exm685190 8 17804851 [A/G] NM_006197 PCM1 EXON Missense_I314V exm685196 8 17810518 [T/C] NM_006197 PCM1 EXON Missense_L371F exm685199 8 17810590 [A/G] NM_006197 PCM1 EXON Missense_E395K exm685207 8 17813054 [A/G] NM_006197 PCM1 EXON Missense_N455S exm2167825 8 17813137 [T/C] NM_006197 PCM1 EXON Missense_H483Y exm685215 8 17813138 [T/A] NM_006197 PCM1 EXON Missense_H483L exm685234 8 17814898 [A/C] NM_006197 PCM1 EXON Missense_N591T exm685235 8 17814915 [A/G] NM_006197 PCM1 EXON Missense_M597V exm685236 8 17814924 [T/C] NM_006197 PCM1 EXON Missense_S600P exm685240 8 17815082 [T/G] NM_006197 PCM1 EXON Missense_I613S exm685243 8 17815107 [T/G] NM_006197 PCM1 EXON Missense_D621E exm685245 8 17815113 [C/G] NM_006197 PCM1 EXON Missense_E623D exm685259 8 17817553 [T/G] NM_006197 PCM1 EXON Missense_A691S exm685262 8 17817635 [A/G] NM_006197 PCM1 EXON Missense_N718S exm685265 8 17817650 [A/C] NM_006197 PCM1 EXON Missense_D723A exm685272 8 17819571 [T/C] NM_006197 PCM1 EXON Missense_P784L exm685276 8 17819628 [C/G] NM_006197 PCM1 EXON Missense_T803S exm685279 8 17819669 [A/G] NM_006197 PCM1 EXON Missense_I817V exm685284 8 17820728 [C/G] NM_006197 PCM1 EXON Missense_S861C exm685286 8 17820758 [T/G] NM_006197 PCM1 EXON Missense_G871V exm685292 8 17822142 [A/G] NM_006197 PCM1 EXON Missense_Y907C exm685295 8 17822208 [T/A] NM_006197 PCM1 EXON Missense_D929V exm685299 8 17823514 [G/C] NM_006197 PCM1 EXON Missense_K954N exm685302 8 17823611 [A/G] NM_006197 PCM1 EXON Missense_V987M exm685321 8 17824575 [T/C] NM_006197 PCM1 EXON Missense_S1103L exm685326 8 17824641 [A/G] NM_006197 PCM1 EXON Missense_N1125S exm685329 8 17824658 [A/C] NM_006197 PCM1 EXON Missense_N1131H exm685334 8 17827193 [A/G] NM_006197 PCM1 EXON Missense_T1174A exm685335 8 17827200 [A/G] NM_006197 PCM1 EXON Missense_Y1176C exm685340 8 17829941 [C/G] NM_006197 PCM1 EXON Missense_V1230L exm685343 8 17830005 [A/G] NM_006197 PCM1 EXON Missense_R1251H exm685356 8 17838213 [T/G] NM_006197 PCM1 EXON Nonsense_E1353X exm685362 8 17843043 [A/G] NM_006197 PCM1 EXON Missense_R1399H exm685379 8 17849147 [T/C] NM_006197 PCM1 EXON Missense_T1543I exm685382 8 17849185 [A/G] NM_006197 PCM1 EXON Missense_G1556S exm685398 8 17867177 [A/G] NM_006197 PCM1 EXON Missense_N1695S exm685399 8 17867185 [T/A] NM_006197 PCM1 EXON Missense_I1698L exm685402 8 17867211 [T/G] NM_006197 PCM1 EXON Missense_R1706S exm685408 8 17868775 [G/C] NM_006197 PCM1 EXON Missense_Q1750H exm685411 8 17868817 [A/C] NM_006197 PCM1 EXON Missense_R1764S exm685412 8 17868819 [C/G] NM_006197 PCM1 EXON Missense_S1765C exm685423 8 17871485 [G/C] NM_006197 PCM1 EXON Missense_D1842H exm685425 8 17871528 [A/G] NM_006197 PCM1 EXON Missense_R1856Q exm685427 8 17872099 [A/G] NM_006197 PCM1 EXON Missense_Q1864R exm685430 8 17872133 [T/G] NM_006197 PCM1 EXON Missense_N1875K exm685431 8 17872171 [A/G] NM_006197 PCM1 EXON Missense_H1888R exm685432 8 17872215 [T/C] NM_006197 PCM1 EXON Missense_P1903S exm685433 8 17872237 [A/G] NM_006197 PCM1 EXON Missense_E1910G exm685443 8 17883053 [T/G] NM_006197 PCM1 EXON Missense_A1979S exm685444 8 17883104 [A/G] NM_006197 PCM1 EXON Missense_G1996S exm2246700 8 17883113 [T/C] NM_006197 PCM1 EXON Missense_C1999R exm685446 8 17883155 [G/C] NM_006197 PCM1 EXON Missense_L2013V exm685455 8 17915087 [T/C] NM_177924,NM_001127505,NM_004315 ASAH1,ASAH1,ASAH1 EXON Missense_E382K,Missense_E376K,Missense_E398K exm685458 8 17915126 [T/C] NM_177924,NM_001127505,NM_004315 ASAH1,ASAH1,ASAH1 EXON Missense_V369I,Missense_V363I,Missense_V385I exm685466 8 17916887 [A/G] NM_177924,NM_001127505,NM_004315 ASAH1,ASAH1,ASAH1 EXON Missense_T335M,Missense_T329M,Missense_T351M exm685468 8 17916923 [T/C] NM_177924,NM_001127505,NM_004315 ASAH1,ASAH1,ASAH1 EXON Missense_R323H,Missense_R317H,Missense_R339H exm685472 8 17916963 [T/G] NM_177924,NM_001127505,NM_004315 ASAH1,ASAH1,ASAH1 EXON Missense_K310Q,Missense_K304Q,Missense_K326Q exm2167962 8 17917088 [C/G] NM_177924,NM_001127505,NM_004315 ASAH1,ASAH1,ASAH1 EXON Missense_V304L,Missense_V298L,Missense_V320L exm685482 8 17918934 [A/G] NM_177924,NM_001127505,NM_004315 ASAH1,ASAH1,ASAH1 EXON Missense_V246A,Missense_V240A,Missense_V262A exm685494 8 17919807 [A/G] NM_177924,NM_001127505,NM_004315 ASAH1,ASAH1,ASAH1 EXON Missense_M210T,Missense_M204T,Missense_M226T exm685495 8 17919816 [A/T] NM_177924,NM_001127505,NM_004315 ASAH1,ASAH1,ASAH1 EXON Missense_Y207F,Missense_Y201F,Missense_Y223F exm685504 8 17920738 [A/T] NM_177924,NM_001127505,NM_004315 ASAH1,ASAH1,ASAH1 EXON Synonymous_G153G,Synonymous_G147G,Synonymous_G169G exm685520 8 17922004 [A/C] NM_177924,NM_001127505,NM_004315 ASAH1,ASAH1,ASAH1 EXON Missense_F140C,Missense_F134C,Missense_F156C exm685537 8 17924735 [T/G] NM_177924,NM_001127505,NM_004315 ASAH1,ASAH1,ASAH1 EXON Missense_P126T,Missense_P120T,Missense_P142T exm685539 8 17924739 [A/T] NM_177924,NM_001127505,NM_004315 ASAH1,ASAH1,ASAH1 EXON Missense_D124E,Missense_D118E,Missense_D140E exm685540 8 17924750 [T/C] NM_177924,NM_001127505,NM_004315 ASAH1,ASAH1,ASAH1 EXON Missense_A121T,Missense_A115T,Missense_A137T exm2246701 8 17924783 [T/C] NM_177924,NM_001127505,NM_004315 ASAH1,ASAH1,ASAH1 EXON Missense_G110S,Missense_G104S,Missense_G126S exm685555 8 17927327 [T/C] NM_177924,NM_001127505,NM_004315 ASAH1,ASAH1,ASAH1 EXON Missense_I93V,Silent,Missense_I109V exm685560 8 17928811 [T/C] NM_177924,NM_001127505,NM_004315 ASAH1,ASAH1,ASAH1 EXON Missense_V72M,Missense_V95M,Missense_V88M exm685561 8 17928814 [G/C] NM_177924,NM_001127505,NM_004315 ASAH1,ASAH1,ASAH1 EXON Missense_P71A,Missense_P94A,Missense_P87A exm685562 8 17928840 [T/C] NM_177924,NM_001127505,NM_004315 ASAH1,ASAH1,ASAH1 EXON Nonsense_W62X,Nonsense_W85X,Nonsense_W78X exm2246702 8 17928855 [A/G] NM_177924,NM_001127505,NM_004315 ASAH1,ASAH1,ASAH1 EXON Missense_P57L,Missense_P80L,Missense_P73L exm685568 8 17930772 [T/C] NM_177924,NM_001127505,NM_004315 ASAH1,ASAH1,ASAH1 EXON Silent,Missense_V63I,Silent exm685569 8 17930774 [A/G] NM_177924,NM_001127505,NM_004315 ASAH1,ASAH1,ASAH1 EXON Silent,Missense_A62V,Silent exm685574 8 17933087 [T/C] NM_177924,NM_001127505,NM_004315 ASAH1,ASAH1,ASAH1 EXON Missense_D30N,Missense_D46N,Missense_D46N exm685590 8 17942204 [T/C] NM_001127505,NM_004315 ASAH1,ASAH1 EXON Missense_S36N,Missense_S36N exm685591 8 17942210 [A/G] NM_001127505,NM_004315 ASAH1,ASAH1 EXON Missense_F34S,Missense_F34S exm685592 8 17942220 [T/C] NM_001127505,NM_004315 ASAH1,ASAH1 EXON Missense_I31V,Missense_I31V exm685593 8 17942229 [T/C] NM_001127505,NM_004315 ASAH1,ASAH1 EXON Missense_E28K,Missense_E28K exm685595 8 17942264 [G/C] NM_001127505,NM_004315 ASAH1,ASAH1 EXON Missense_R16P,Missense_R16P exm685597 8 17942273 [T/C] NM_001127505,NM_004315 ASAH1,ASAH1 EXON Missense_G13E,Missense_G13E exm685598 8 17942276 [G/C] NM_001127505,NM_004315 ASAH1,ASAH1 EXON Missense_R12P,Missense_R12P exm-rs17126232 8 17977650 [T/C] exm2275290 8 18067463 [T/C] NM_001160179 NAT1 EXON Silent exm685613 8 18079746 [T/C] NM_001160179,NM_001160170,NM_001160172,NM_000662,NM_001160171,NM_001160176,NM_001160173,NM_001160175,NM_001160174 NAT1,NAT1,NAT1,NAT1,NAT1,NAT1,NAT1,NAT1,NAT1 EXON Missense_R64W,Missense_R64W,Missense_R64W,Missense_R64W,Missense_R64W,Missense_R126W,Missense_R64W,Missense_R126W,Missense_R64W exm685623 8 18080001 [A/G] NM_001160179,NM_001160170,NM_001160172,NM_000662,NM_001160171,NM_001160176,NM_001160173,NM_001160175,NM_001160174 NAT1,NAT1,NAT1,NAT1,NAT1,NAT1,NAT1,NAT1,NAT1 EXON Missense_V149I,Missense_V149I,Missense_V149I,Missense_V149I,Missense_V149I,Missense_V211I,Missense_V149I,Missense_V211I,Missense_V149I exm685630 8 18080060 [T/G] NM_001160179,NM_001160170,NM_001160172,NM_000662,NM_001160171,NM_001160176,NM_001160173,NM_001160175,NM_001160174 NAT1,NAT1,NAT1,NAT1,NAT1,NAT1,NAT1,NAT1,NAT1 EXON Missense_Q168H,Missense_Q168H,Missense_Q168H,Missense_Q168H,Missense_Q168H,Missense_Q230H,Missense_Q168H,Missense_Q230H,Missense_Q168H exm685632 8 18080115 [T/C] NM_001160179,NM_001160170,NM_001160172,NM_000662,NM_001160171,NM_001160176,NM_001160173,NM_001160175,NM_001160174 NAT1,NAT1,NAT1,NAT1,NAT1,NAT1,NAT1,NAT1,NAT1 EXON Nonsense_R187X,Nonsense_R187X,Nonsense_R187X,Nonsense_R187X,Nonsense_R187X,Nonsense_R249X,Nonsense_R187X,Nonsense_R249X,Nonsense_R187X exm685633 8 18080116 [A/G] NM_001160179,NM_001160170,NM_001160172,NM_000662,NM_001160171,NM_001160176,NM_001160173,NM_001160175,NM_001160174 NAT1,NAT1,NAT1,NAT1,NAT1,NAT1,NAT1,NAT1,NAT1 EXON Missense_R187Q,Missense_R187Q,Missense_R187Q,Missense_R187Q,Missense_R187Q,Missense_R249Q,Missense_R187Q,Missense_R249Q,Missense_R187Q exm685639 8 18080196 [T/G] NM_001160179,NM_001160170,NM_001160172,NM_000662,NM_001160171,NM_001160176,NM_001160173,NM_001160175,NM_001160174 NAT1,NAT1,NAT1,NAT1,NAT1,NAT1,NAT1,NAT1,NAT1 EXON Missense_S214A,Missense_S214A,Missense_S214A,Missense_S214A,Missense_S214A,Missense_S276A,Missense_S214A,Missense_S276A,Missense_S214A exm685642 8 18080308 [T/A] NM_001160179,NM_001160170,NM_001160172,NM_000662,NM_001160171,NM_001160176,NM_001160173,NM_001160175,NM_001160174 NAT1,NAT1,NAT1,NAT1,NAT1,NAT1,NAT1,NAT1,NAT1 EXON Missense_D251V,Missense_D251V,Missense_D251V,Missense_D251V,Missense_D251V,Missense_D313V,Missense_D251V,Missense_D313V,Missense_D251V exm2168021 8 18080333 [T/C] NM_001160179,NM_001160170,NM_001160172,NM_000662,NM_001160171,NM_001160176,NM_001160173,NM_001160175,NM_001160174 NAT1,NAT1,NAT1,NAT1,NAT1,NAT1,NAT1,NAT1,NAT1 EXON Synonymous_S259S,Synonymous_S259S,Synonymous_S259S,Synonymous_S259S,Synonymous_S259S,Synonymous_S321S,Synonymous_S259S,Synonymous_S321S,Synonymous_S259S exm2258763 8 18207413 [A/C] exm685657 8 18257583 [T/A] NM_000015 NAT2 EXON Missense_L24I exm685658 8 18257611 [A/G] NM_000015 NAT2 EXON Missense_R33Q exm685660 8 18257634 [A/T] NM_000015 NAT2 EXON Missense_N41Y exm-rs1805158 8 18257703 [T/C] NM_000015 NAT2 EXON Missense_R64W exm685662 8 18257704 [A/G] NM_000015 NAT2 EXON Missense_R64Q exm685663 8 18257728 [A/G] NM_000015 NAT2 EXON Missense_N72S exm685672 8 18257916 [G/C] NM_000015 NAT2 EXON Missense_L135V exm685673 8 18257985 [A/C] NM_000015 NAT2 EXON Missense_I158L exm-rs1799929 8 18257994 [T/C] NM_000015 NAT2 EXON Synonymous_L161L exm685675 8 18258012 [A/G] NM_000015 NAT2 EXON Missense_E167K exm685680 8 18258091 [T/C] NM_000015 NAT2 EXON Missense_T193M exm685683 8 18258103 [A/G] NM_000015 NAT2 EXON Missense_R197Q exm685684 8 18258122 [T/G] NM_000015 NAT2 EXON Missense_E203D exm685685 8 18258126 [T/A] NM_000015 NAT2 EXON Missense_M205L exm685686 8 18258135 [T/C] NM_000015 NAT2 EXON Missense_Y208H exm685687 8 18258151 [T/C] NM_000015 NAT2 EXON Missense_P213L exm685692 8 18258196 [T/C] NM_000015 NAT2 EXON Missense_P228L exm685698 8 18258279 [A/G] NM_000015 NAT2 EXON Missense_K256E exm685699 8 18258316 [A/G] NM_000015 NAT2 EXON Missense_R268K exm685703 8 18258351 [A/G] NM_000015 NAT2 EXON Missense_V280M exm685705 8 18258370 [A/G] NM_000015 NAT2 EXON Missense_G286E exm685706 8 18258384 [T/G] NM_000015 NAT2 EXON Missense_X291E exm-rs4921914 8 18272438 [T/C] exm-rs1495741 8 18272881 [A/G] exm685713 8 18393371 [T/G] NM_206909,NM_015310 PSD3,PSD3 EXON Missense_H475P,Missense_H1009P exm685716 8 18393435 [T/C] NM_206909,NM_015310 PSD3,PSD3 EXON Missense_K454E,Missense_K988E exm685731 8 18432774 [T/C] NM_206909,NM_015310 PSD3,PSD3 EXON Missense_A301T,Missense_A835T exm2262453 8 18560687 [T/C] NM_206909,NM_015310 PSD3,PSD3 Silent,Silent exm685761 8 18622985 [T/C] NM_206909,NM_015310 PSD3,PSD3 EXON Missense_V182I,Missense_V716I exm685768 8 18656805 [A/G] NM_206909,NM_015310 PSD3,PSD3 EXON Synonymous_H160H,Synonymous_H694H exm685775 8 18658794 [A/G] NM_206909,NM_015310 PSD3,PSD3 EXON Missense_T136I,Missense_T670I exm685777 8 18658821 [T/C] NM_206909,NM_015310 PSD3,PSD3 EXON Missense_N127S,Missense_N661S exm685796 8 18662355 [A/G] NM_206909,NM_015310 PSD3,PSD3 EXON Missense_T29I,Missense_T563I exm685806 8 18666286 [A/G] NM_206909,NM_015310 PSD3,PSD3 EXON Missense_S4F,Silent exm685811 8 18725224 [T/G] NM_015310 PSD3 EXON Missense_I532L exm685813 8 18725253 [A/G] NM_015310 PSD3 EXON Missense_T522I exm685825 8 18725430 [A/G] NM_015310 PSD3 EXON Missense_T463I exm685828 8 18725487 [T/C] NM_015310 PSD3 EXON Missense_Q444R exm685833 8 18725557 [A/C] NM_015310 PSD3 EXON Missense_V421F exm2258765 8 18725558 [A/G] NM_015310 PSD3 EXON Synonymous_H420H exm685838 8 18729188 [T/C] NM_015310 PSD3 EXON Missense_E396K exm2258766 8 18729207 [T/C] NM_015310 PSD3 EXON Synonymous_E389E exm685847 8 18729328 [A/C] NM_015310 PSD3 EXON Missense_G349V exm685848 8 18729350 [A/G] NM_015310 PSD3 EXON Missense_R342C exm685860 8 18729496 [A/G] NM_015310 PSD3 EXON Missense_P293L exm685864 8 18729529 [G/C] NM_015310 PSD3 EXON Missense_G282A exm685866 8 18729577 [A/G] NM_015310 PSD3 EXON Missense_V266A exm685868 8 18729593 [A/G] NM_015310 PSD3 EXON Missense_H261Y exm685874 8 18729647 [T/C] NM_015310 PSD3 EXON Missense_V243M exm685876 8 18729665 [T/C] NM_015310 PSD3 EXON Missense_R237G exm685879 8 18729702 [C/G] NM_015310 PSD3 EXON Missense_D224E exm2168156 8 18729817 [A/G] NM_015310 PSD3 EXON Missense_T186M exm685889 8 18729818 [T/G] NM_015310 PSD3 EXON Missense_T186P exm685894 8 18729899 [C/G] NM_015310 PSD3 EXON Missense_D159H exm685896 8 18729932 [T/C] NM_015310 PSD3 EXON Missense_G148R exm685901 8 18730030 [A/C] NM_015310 PSD3 EXON Missense_R115I exm685902 8 18730036 [A/T] NM_015310 PSD3 EXON Missense_D113V exm-rs4921617 8 18782047 [T/C] NM_015310 PSD3 Silent exm2258769 8 19076995 [A/G] NR_038919 LOC100128993 Silent exm685930 8 19171316 [T/C] NM_022071,NM_001174160 SH2D4A,SH2D4A EXON Silent,Missense_P10S exm685940 8 19177175 [A/G] NM_022071,NM_001174160,NM_001174159 SH2D4A,SH2D4A,SH2D4A EXON Nonsense_W39X,Silent,Nonsense_W39X exm685958 8 19192358 [T/A] NM_022071,NM_001174160,NM_001174159 SH2D4A,SH2D4A,SH2D4A EXON Missense_E168V,Missense_E123V,Missense_E168V exm685961 8 19214762 [A/G] NM_022071,NM_001174160,NM_001174159 SH2D4A,SH2D4A,SH2D4A EXON Missense_I188V,Missense_I143V,Missense_I188V exm685970 8 19218745 [A/G] NM_022071,NM_001174160,NM_001174159 SH2D4A,SH2D4A,SH2D4A EXON Missense_E209G,Missense_E164G,Missense_E209G exm685972 8 19218766 [A/G] NM_022071,NM_001174160,NM_001174159 SH2D4A,SH2D4A,SH2D4A EXON Missense_E216G,Missense_E171G,Missense_E216G exm2275381 8 19218808 [A/C] NM_022071,NM_001174160,NM_001174159 SH2D4A,SH2D4A,SH2D4A EXON Nonsense_S230X,Nonsense_S185X,Nonsense_S230X exm685977 8 19218826 [A/G] NM_022071,NM_001174160,NM_001174159 SH2D4A,SH2D4A,SH2D4A Silent,Silent,Silent exm685979 8 19221595 [A/G] NM_022071,NM_001174160,NM_001174159 SH2D4A,SH2D4A,SH2D4A EXON Missense_K240R,Missense_K195R,Missense_K240R exm685981 8 19221615 [T/C] NM_022071,NM_001174160,NM_001174159 SH2D4A,SH2D4A,SH2D4A EXON Missense_R247C,Missense_R202C,Missense_R247C exm685985 8 19221663 [A/G] NM_022071,NM_001174160,NM_001174159 SH2D4A,SH2D4A,SH2D4A EXON Missense_G263R,Missense_G218R,Missense_G263R exm685986 8 19221664 [C/G] NM_022071,NM_001174160,NM_001174159 SH2D4A,SH2D4A,SH2D4A EXON Missense_G263A,Missense_G218A,Missense_G263A exm685991 8 19221697 [A/G] NM_022071,NM_001174160,NM_001174159 SH2D4A,SH2D4A,SH2D4A EXON Missense_Q274R,Missense_Q229R,Missense_Q274R exm685996 8 19221726 [A/G] NM_022071,NM_001174160,NM_001174159 SH2D4A,SH2D4A,SH2D4A EXON Missense_E284K,Missense_E239K,Missense_E284K exm685999 8 19221784 [A/G] NM_022071,NM_001174160,NM_001174159 SH2D4A,SH2D4A,SH2D4A EXON Missense_K303R,Missense_K258R,Missense_K303R exm686006 8 19231094 [A/G] NM_022071,NM_001174160,NM_001174159 SH2D4A,SH2D4A,SH2D4A EXON Missense_R324Q,Missense_R279Q,Missense_R324Q exm686018 8 19250891 [A/C] NM_022071,NM_001174160,NM_001174159 SH2D4A,SH2D4A,SH2D4A EXON Missense_L371I,Missense_L326I,Missense_L371I exm686020 8 19250940 [T/C] NM_022071,NM_001174160,NM_001174159 SH2D4A,SH2D4A,SH2D4A EXON Missense_S387L,Missense_S342L,Missense_S387L exm686022 8 19250948 [A/G] NM_022071,NM_001174160,NM_001174159 SH2D4A,SH2D4A,SH2D4A EXON Missense_G390S,Missense_G345S,Missense_G390S exm686041 8 19263328 [C/G] NM_018371,NR_024040,NM_001130518 CSGALNACT1,CSGALNACT1,CSGALNACT1 EXON Missense_R521P,Silent,Missense_R521P exm2168249 8 19263372 [A/C] NM_018371,NR_024040,NM_001130518 CSGALNACT1,CSGALNACT1,CSGALNACT1 EXON Missense_Q506H,Silent,Missense_Q506H exm686051 8 19263445 [T/A] NM_018371,NR_024040,NM_001130518 CSGALNACT1,CSGALNACT1,CSGALNACT1 EXON Missense_M482K,Silent,Missense_M482K exm686052 8 19263451 [T/C] NM_018371,NR_024040,NM_001130518 CSGALNACT1,CSGALNACT1,CSGALNACT1 EXON Missense_R480H,Silent,Missense_R480H exm686053 8 19263472 [T/A] NM_018371,NR_024040,NM_001130518 CSGALNACT1,CSGALNACT1,CSGALNACT1 EXON Missense_F473Y,Silent,Missense_F473Y exm686054 8 19263481 [T/C] NM_018371,NR_024040,NM_001130518 CSGALNACT1,CSGALNACT1,CSGALNACT1 EXON Missense_R470Q,Silent,Missense_R470Q exm-rs7821446 8 19268822 [T/C] NM_018371,NR_024040,NM_001130518 CSGALNACT1,CSGALNACT1,CSGALNACT1 Silent,Silent,Silent exm686067 8 19276195 [T/C] NM_018371,NR_024040,NM_001130518 CSGALNACT1,CSGALNACT1,CSGALNACT1 EXON Missense_D400G,Silent,Missense_D400G exm686074 8 19277874 [A/G] NM_018371,NR_024040,NM_001130518 CSGALNACT1,CSGALNACT1,CSGALNACT1 EXON Missense_T370M,Silent,Missense_T370M exm686082 8 19277985 [T/C] NM_018371,NR_024040,NM_001130518 CSGALNACT1,CSGALNACT1,CSGALNACT1 EXON Missense_E333G,Silent,Missense_E333G exm686087 8 19297357 [A/G] NM_018371,NR_024040,NM_001130518 CSGALNACT1,CSGALNACT1,CSGALNACT1 EXON Missense_L313F,Silent,Missense_L313F exm686088 8 19297362 [T/C] NM_018371,NR_024040,NM_001130518 CSGALNACT1,CSGALNACT1,CSGALNACT1 EXON Missense_G311E,Silent,Missense_G311E exm686102 8 19315997 [T/C] NM_018371,NR_024040,NM_001130518 CSGALNACT1,CSGALNACT1,CSGALNACT1 EXON Missense_N264S,Silent,Missense_N264S exm686105 8 19316006 [A/G] NM_018371,NR_024040,NM_001130518 CSGALNACT1,CSGALNACT1,CSGALNACT1 EXON Missense_T261M,Silent,Missense_T261M exm686110 8 19316070 [T/C] NM_018371,NR_024040,NM_001130518 CSGALNACT1,CSGALNACT1,CSGALNACT1 EXON Missense_I240V,Silent,Missense_I240V exm686121 8 19362732 [A/G] NM_018371,NR_024040,NM_001130518 CSGALNACT1,CSGALNACT1,CSGALNACT1 EXON Missense_T205M,Silent,Missense_T205M exm686124 8 19362768 [T/C] NM_018371,NR_024040,NM_001130518 CSGALNACT1,CSGALNACT1,CSGALNACT1 EXON Missense_S193N,Silent,Missense_S193N exm686129 8 19362901 [T/C] NM_018371,NR_024040,NM_001130518 CSGALNACT1,CSGALNACT1,CSGALNACT1 EXON Missense_D149N,Silent,Missense_D149N exm686130 8 19362918 [T/C] NM_018371,NR_024040,NM_001130518 CSGALNACT1,CSGALNACT1,CSGALNACT1 EXON Missense_Y143C,Silent,Missense_Y143C exm686131 8 19362937 [T/C] NM_018371,NR_024040,NM_001130518 CSGALNACT1,CSGALNACT1,CSGALNACT1 EXON Missense_V137I,Silent,Missense_V137I exm686133 8 19362969 [A/G] NM_018371,NR_024040,NM_001130518 CSGALNACT1,CSGALNACT1,CSGALNACT1 EXON Missense_S126L,Silent,Missense_S126L exm686137 8 19363029 [A/G] NM_018371,NR_024040,NM_001130518 CSGALNACT1,CSGALNACT1,CSGALNACT1 EXON Missense_L106P,Silent,Missense_L106P exm686140 8 19363071 [T/G] NM_018371,NR_024040,NM_001130518 CSGALNACT1,CSGALNACT1,CSGALNACT1 EXON Missense_Q92P,Silent,Missense_Q92P exm686144 8 19363116 [T/C] NM_018371,NR_024040,NM_001130518 CSGALNACT1,CSGALNACT1,CSGALNACT1 EXON Missense_R77Q,Silent,Missense_R77Q exm2168282 8 19363285 [A/G] NM_018371,NR_024040,NM_001130518 CSGALNACT1,CSGALNACT1,CSGALNACT1 EXON Missense_L21F,Silent,Missense_L21F exm686159 8 19363306 [A/G] NM_018371,NR_024040,NM_001130518 CSGALNACT1,CSGALNACT1,CSGALNACT1 EXON Missense_R14W,Silent,Missense_R14W exm2258771 8 19543862 [T/C] exm686166 8 19675151 [T/C] NM_018142 INTS10 EXON Missense_L35F exm2168330 8 19675801 [A/G] NM_018142 INTS10 EXON Missense_I49V exm686200 8 19682319 [A/G] NM_018142 INTS10 EXON Missense_Y281C exm686202 8 19682436 [A/G] NM_018142 INTS10 EXON Missense_K320R exm686206 8 19683957 [G/C] NM_018142 INTS10 EXON Missense_V343L exm2258772 8 19687928 [T/C] NM_018142 INTS10 EXON Synonymous_D384D exm686223 8 19690722 [A/G] NM_018142 INTS10 EXON Missense_A474T exm686233 8 19690816 [T/C] NM_018142 INTS10 EXON Missense_A505V exm686240 8 19700394 [A/G] NM_018142 INTS10 EXON Missense_A559T exm686241 8 19700397 [A/G] NM_018142 INTS10 EXON Missense_I560V exm686248 8 19701702 [T/G] NM_018142 INTS10 EXON Missense_C612F exm686255 8 19709237 [A/G] NM_018142 INTS10 EXON Missense_R685H exm2168357 8 19709269 [A/G] NM_018142 INTS10 EXON Missense_R696G exm2270953 8 19784574 [T/C] exm-rs7816032 8 19786891 [T/C] exm686260 8 19805708 [A/G] NM_000237 LPL EXON Missense_D36N exm686264 8 19805751 [G/C] NM_000237 LPL EXON Missense_A50G exm2168362 8 19805815 [C/G] NM_000237 LPL EXON Missense_H71Q exm686274 8 19809375 [A/C] NM_000237 LPL EXON Synonymous_S115S exm2258773 8 19809375 [A/C] NM_000237 LPL EXON Synonymous_S115S exm686276 8 19809416 [A/C] NM_000237 LPL EXON Missense_K129T exm686290 8 19811733 [A/G] NM_000237 LPL EXON Missense_G215E exm-rs264 8 19813180 [A/G] NM_000237 LPL Silent exm686306 8 19813529 [A/G] NM_000237 LPL EXON Missense_N318S exm686316 8 19816887 [A/G] NM_000237 LPL EXON Missense_T379A exm686317 8 19816888 [T/C] NM_000237 LPL EXON Missense_T379I exm-rs301 8 19816934 [T/C] NM_000237 LPL Silent exm686329 8 19818551 [A/G] NM_000237 LPL EXON Missense_A427T exm-rs326 8 19819439 [A/G] NM_000237 LPL Silent exm686331 8 19819628 [T/G] NM_000237 LPL EXON Missense_V442G exm686337 8 19819676 [T/C] NM_000237 LPL EXON Missense_A458V exm686338 8 19819682 [T/C] NM_000237 LPL EXON Missense_A460V exm686341 8 19819724 [C/G] NM_000237 LPL EXON Nonsense_S474X exm-rs13702 8 19824492 [T/C] NM_000237 LPL EXON Synonymous_C1033C exm-rs15285 8 19824667 [T/C] NM_000237 LPL EXON Missense_H1092Y exm-rs2197089 8 19826373 [A/G] exm-rs10096633 8 19830921 [T/C] exm-rs17482753 8 19832646 [T/G] exm-rs12678919 8 19844222 [A/G] exm-rs10503669 8 19847690 [A/C] exm-rs2083637 8 19865175 [A/G] exm-rs1441756 8 19868386 [A/C] exm-rs7016880 8 19876746 [C/G] exm2274297 8 20003282 [T/C] NM_001142325,NM_001135691,NM_001142324,NM_003053 SLC18A1,SLC18A1,SLC18A1,SLC18A1 EXON Silent,Missense_E524K,Missense_E492K,Missense_E524K exm686359 8 20004798 [A/G] NM_001142325,NM_001135691,NM_001142324,NM_003053 SLC18A1,SLC18A1,SLC18A1,SLC18A1 EXON Silent,Missense_R479W,Missense_R447W,Missense_R479W exm686361 8 20004824 [A/G] NM_001142325,NM_001135691,NM_001142324,NM_003053 SLC18A1,SLC18A1,SLC18A1,SLC18A1 EXON Silent,Missense_V470A,Missense_V438A,Missense_V470A exm686362 8 20004825 [T/C] NM_001142325,NM_001135691,NM_001142324,NM_003053 SLC18A1,SLC18A1,SLC18A1,SLC18A1 EXON Silent,Missense_V470I,Missense_V438I,Missense_V470I exm686369 8 20004884 [A/G] NM_001142325,NM_001135691,NM_001142324,NM_003053 SLC18A1,SLC18A1,SLC18A1,SLC18A1 EXON Silent,Missense_A450V,Missense_A418V,Missense_A450V exm686375 8 20005174 [A/G] NM_001142325,NM_001135691,NM_001142324,NM_003053 SLC18A1,SLC18A1,SLC18A1,SLC18A1 EXON Missense_S424P,Missense_S424P,Missense_S392P,Missense_S424P exm686381 8 20005554 [C/G] NM_001142325,NM_001135691,NM_001142324,NM_003053 SLC18A1,SLC18A1,SLC18A1,SLC18A1 EXON Missense_L392V,Missense_L392V,Missense_L360V,Missense_L392V exm686384 8 20005574 [A/G] NM_001142325,NM_001135691,NM_001142324,NM_003053 SLC18A1,SLC18A1,SLC18A1,SLC18A1 EXON Missense_L385P,Missense_L385P,Missense_L353P,Missense_L385P exm686390 8 20008178 [A/G] NM_001142325,NM_001135691,NM_001142324,NM_003053 SLC18A1,SLC18A1,SLC18A1,SLC18A1 EXON Missense_R365W,Missense_R365W,Missense_R333W,Missense_R365W exm2168430 8 20022592 [T/C] NM_001142325,NM_001135691,NM_001142324,NM_003053 SLC18A1,SLC18A1,SLC18A1,SLC18A1 EXON Missense_M295I,Missense_M295I,Missense_M295I,Missense_M295I exm2168434 8 20028625 [T/C] NM_001142325,NM_001135691,NM_001142324,NM_003053 SLC18A1,SLC18A1,SLC18A1,SLC18A1 EXON Missense_V283I,Missense_V283I,Missense_V283I,Missense_V283I exm2168438 8 20028921 [A/T] NM_001142325,NM_001135691,NM_001142324,NM_003053 SLC18A1,SLC18A1,SLC18A1,SLC18A1 EXON Missense_D270V,Missense_D270V,Missense_D270V,Missense_D270V exm686422 8 20028985 [T/C] NM_001142325,NM_001135691,NM_001142324,NM_003053 SLC18A1,SLC18A1,SLC18A1,SLC18A1 EXON Missense_V249I,Missense_V249I,Missense_V249I,Missense_V249I exm2168446 8 20030592 [G/C] NM_001142325,NM_001135691,NM_001142324,NM_003053 SLC18A1,SLC18A1,SLC18A1,SLC18A1 EXON Missense_R227G,Missense_R227G,Missense_R227G,Missense_R227G exm686427 8 20030603 [T/C] NM_001142325,NM_001135691,NM_001142324,NM_003053 SLC18A1,SLC18A1,SLC18A1,SLC18A1 EXON Missense_H223R,Missense_H223R,Missense_H223R,Missense_H223R exm2274298 8 20030624 [A/G] NM_001142325,NM_001135691,NM_001142324,NM_003053 SLC18A1,SLC18A1,SLC18A1,SLC18A1 EXON Missense_A216V,Missense_A216V,Missense_A216V,Missense_A216V exm686435 8 20035990 [A/G] NM_001142325,NM_001135691,NM_001142324,NM_003053 SLC18A1,SLC18A1,SLC18A1,SLC18A1 EXON Missense_I168T,Missense_I168T,Missense_I168T,Missense_I168T exm686438 8 20036001 [A/C] NM_001142325,NM_001135691,NM_001142324,NM_003053 SLC18A1,SLC18A1,SLC18A1,SLC18A1 EXON Missense_I164M,Missense_I164M,Missense_I164M,Missense_I164M exm686445 8 20036702 [T/C] NM_001142325,NM_001135691,NM_001142324,NM_003053 SLC18A1,SLC18A1,SLC18A1,SLC18A1 EXON Missense_G140R,Missense_G140R,Missense_G140R,Missense_G140R exm686446 8 20036707 [A/C] NM_001142325,NM_001135691,NM_001142324,NM_003053 SLC18A1,SLC18A1,SLC18A1,SLC18A1 EXON Missense_R138L,Missense_R138L,Missense_R138L,Missense_R138L exm686448 8 20036713 [A/G] NM_001142325,NM_001135691,NM_001142324,NM_003053 SLC18A1,SLC18A1,SLC18A1,SLC18A1 EXON Missense_I136T,Missense_I136T,Missense_I136T,Missense_I136T exm686449 8 20036715 [C/G] NM_001142325,NM_001135691,NM_001142324,NM_003053 SLC18A1,SLC18A1,SLC18A1,SLC18A1 EXON Missense_E135D,Missense_E135D,Missense_E135D,Missense_E135D exm686456 8 20036819 [G/C] NM_001142325,NM_001135691,NM_001142324,NM_003053 SLC18A1,SLC18A1,SLC18A1,SLC18A1 EXON Missense_A101P,Missense_A101P,Missense_A101P,Missense_A101P exm686457 8 20036827 [G/C] NM_001142325,NM_001135691,NM_001142324,NM_003053 SLC18A1,SLC18A1,SLC18A1,SLC18A1 EXON Missense_S98T,Missense_S98T,Missense_S98T,Missense_S98T exm686462 8 20036869 [A/G] NM_001142325,NM_001135691,NM_001142324,NM_003053 SLC18A1,SLC18A1,SLC18A1,SLC18A1 EXON Missense_F84S,Missense_F84S,Missense_F84S,Missense_F84S exm686464 8 20036875 [A/C] NM_001142325,NM_001135691,NM_001142324,NM_003053 SLC18A1,SLC18A1,SLC18A1,SLC18A1 EXON Missense_F82C,Missense_F82C,Missense_F82C,Missense_F82C exm686466 8 20036899 [A/G] NM_001142325,NM_001135691,NM_001142324,NM_003053 SLC18A1,SLC18A1,SLC18A1,SLC18A1 EXON Missense_A74V,Missense_A74V,Missense_A74V,Missense_A74V exm2168465 8 20038391 [T/C] NM_001142325,NM_001135691,NM_001142324,NM_003053 SLC18A1,SLC18A1,SLC18A1,SLC18A1 EXON Missense_V29I,Missense_V29I,Missense_V29I,Missense_V29I exm686476 8 20038418 [A/G] NM_001142325,NM_001135691,NM_001142324,NM_003053 SLC18A1,SLC18A1,SLC18A1,SLC18A1 EXON Missense_R20W,Missense_R20W,Missense_R20W,Missense_R20W exm2276004 8 20038445 [A/G] NM_001142325,NM_001135691,NM_001142324,NM_003053 SLC18A1,SLC18A1,SLC18A1,SLC18A1 EXON Missense_R11W,Missense_R11W,Missense_R11W,Missense_R11W exm686479 8 20038447 [T/C] NM_001142325,NM_001135691,NM_001142324,NM_003053 SLC18A1,SLC18A1,SLC18A1,SLC18A1 EXON Missense_Q10R,Missense_Q10R,Missense_Q10R,Missense_Q10R exm686480 8 20038466 [T/G] NM_001142325,NM_001135691,NM_001142324,NM_003053 SLC18A1,SLC18A1,SLC18A1,SLC18A1 EXON Missense_T4P,Missense_T4P,Missense_T4P,Missense_T4P exm686486 8 20054928 [A/G] NM_001693 ATP6V1B2 EXON Missense_R4Q exm686491 8 20054957 [T/G] NM_001693 ATP6V1B2 EXON Missense_A14S exm686495 8 20062019 [A/G] NM_001693 ATP6V1B2 EXON Missense_N54S exm-rs1106634 8 20066049 [A/G] NM_001693 ATP6V1B2 Silent exm686566 8 20107325 [C/G] NM_021020 LZTS1 EXON Missense_L567V exm686572 8 20107433 [T/C] NM_021020 LZTS1 EXON Missense_V531M exm686587 8 20107601 [C/G] NM_021020 LZTS1 EXON Missense_L475V exm686591 8 20107693 [G/C] NM_021020 LZTS1 EXON Missense_G444A exm686599 8 20107816 [A/G] NM_021020 LZTS1 EXON Missense_T403M exm686604 8 20110364 [C/G] NM_021020 LZTS1 EXON Missense_E360Q exm686605 8 20110379 [C/G] NM_021020 LZTS1 EXON Missense_E355Q exm686606 8 20110406 [G/C] NM_021020 LZTS1 EXON Missense_R346G exm686623 8 20110598 [A/G] NM_021020 LZTS1 EXON Missense_R282C exm686645 8 20110915 [T/C] NM_021020 LZTS1 EXON Missense_R176Q exm686655 8 20112355 [A/G] NM_021020 LZTS1 EXON Missense_L113P exm686656 8 20112361 [T/C] NM_021020 LZTS1 EXON Missense_N111S exm686659 8 20112418 [C/G] NM_021020 LZTS1 EXON Missense_G92A exm686668 8 20112587 [A/G] NM_021020 LZTS1 EXON Missense_R36W exm2270827 8 20335626 [T/C] exm2266718 8 20347457 [A/G] exm-rs9325872 8 20480271 [A/G] exm2258776 8 20787381 [T/C] exm2270954 8 21167552 [T/C] exm-rs12546633 8 21276507 [A/G] exm2270829 8 21479725 [T/C] exm686674 8 21550800 [T/A] NM_001165039,NM_001165038,NM_001495 GFRA2,GFRA2,GFRA2 EXON Missense_L329Q,Missense_L357Q,Missense_L462Q exm686678 8 21550858 [A/G] NM_001165039,NM_001165038,NM_001495 GFRA2,GFRA2,GFRA2 EXON Missense_P310S,Missense_P338S,Missense_P443S exm686686 8 21560336 [A/G] NM_001165039,NM_001165038,NM_001495 GFRA2,GFRA2,GFRA2 EXON Missense_T267I,Missense_T295I,Missense_T400I exm686688 8 21560352 [T/C] NM_001165039,NM_001165038,NM_001495 GFRA2,GFRA2,GFRA2 EXON Missense_G262R,Missense_G290R,Missense_G395R exm686689 8 21560357 [T/C] NM_001165039,NM_001165038,NM_001495 GFRA2,GFRA2,GFRA2 EXON Missense_S260N,Missense_S288N,Missense_S393N exm686691 8 21560406 [A/G] NM_001165039,NM_001165038,NM_001495 GFRA2,GFRA2,GFRA2 EXON Missense_R244W,Missense_R272W,Missense_R377W exm686694 8 21560425 [G/C] NM_001165039,NM_001165038,NM_001495 GFRA2,GFRA2,GFRA2 EXON Missense_F237L,Missense_F265L,Missense_F370L exm686701 8 21562521 [T/C] NM_001165039,NM_001165038,NM_001495 GFRA2,GFRA2,GFRA2 EXON Missense_D208N,Missense_D236N,Missense_D341N exm2246733 8 21640407 [G/C] NM_001165039,NM_001165038,NM_001495 GFRA2,GFRA2,GFRA2 EXON Silent,Silent,Missense_E15D exm2258778 8 21650993 [T/C] exm-rs17581368 8 21662445 [A/C] exm686725 8 21766881 [A/C] NM_003974 DOK2 EXON Missense_S394A exm686737 8 21767033 [T/C] NM_003974 DOK2 EXON Missense_H343R exm686746 8 21767148 [T/C] NM_003974 DOK2 EXON Missense_A305T exm686756 8 21767240 [A/G] NM_003974 DOK2 EXON Missense_P274L exm686760 8 21767265 [A/G] NM_003974 DOK2 EXON Missense_R266W exm686765 8 21767322 [T/C] NM_003974 DOK2 EXON Missense_N247D exm2258779 8 21767383 [A/G] NM_003974 DOK2 EXON Synonymous_F226F exm686773 8 21767414 [T/C] NM_003974 DOK2 EXON Missense_R216H exm686775 8 21767417 [T/C] NM_003974 DOK2 EXON Missense_R215H exm686789 8 21768370 [T/C] NM_003974 DOK2 Silent exm686790 8 21769432 [A/G] NM_003974 DOK2 EXON Missense_L138S exm686807 8 21769904 [T/G] NM_003974 DOK2 EXON Missense_R61S exm686814 8 21770011 [T/C] NM_003974 DOK2 EXON Missense_R25H exm686818 8 21771080 [A/C] NM_003974 DOK2 EXON Missense_L11F exm-rs7843479 8 21820813 [A/C] NM_015024 XPO7 Silent exm686881 8 21847855 [G/C] NM_015024 XPO7 EXON Synonymous_G623G exm686889 8 21851875 [A/G] NM_015024 XPO7 EXON Missense_R717Q exm686926 8 21882959 [A/G] NM_182795 NPM2 EXON Missense_S24N exm686928 8 21883032 [T/G] NM_182795 NPM2 EXON Synonymous_T48T exm686931 8 21883181 [A/C] NM_182795 NPM2 EXON Missense_K56N exm686932 8 21883282 [T/C] NM_182795 NPM2 EXON Missense_M90T exm686938 8 21890690 [A/G] NM_182795 NPM2 EXON Missense_R107Q exm686946 8 21891712 [A/G] NM_182795 NPM2 EXON Missense_I153V exm686953 8 21892053 [A/G] NM_182795 NPM2 EXON Missense_I188M exm686957 8 21894018 [A/G] NM_182795 NPM2 EXON Missense_D194G exm686995 8 21924633 [A/G] NM_001114137,NM_001114139,NM_001114136,NM_001114135,NM_001978,NM_001114138 EPB49,EPB49,EPB49,EPB49,EPB49,EPB49 EXON Missense_R19Q,Silent,Missense_R19Q,Missense_R19Q,Missense_R19Q,Missense_R19Q exm687000 8 21925161 [G/C] NM_001114137,NM_001114139,NM_001114136,NM_001114135,NM_001978,NM_001114138 EPB49,EPB49,EPB49,EPB49,EPB49,EPB49 EXON Missense_L73V,Missense_L48V,Missense_L73V,Missense_L73V,Missense_L73V,Missense_L73V exm687035 8 21929924 [A/G] NM_001114137,NM_001114139,NM_001114136,NM_001114135,NM_001978,NM_001114138 EPB49,EPB49,EPB49,EPB49,EPB49,EPB49 EXON Missense_K231R,Missense_K206R,Missense_K231R,Missense_K231R,Missense_K231R,Missense_K231R exm687037 8 21929939 [T/G] NM_001114137,NM_001114139,NM_001114136,NM_001114135,NM_001978,NM_001114138 EPB49,EPB49,EPB49,EPB49,EPB49,EPB49 EXON Missense_R236L,Missense_R211L,Missense_R236L,Missense_R236L,Missense_R236L,Missense_R236L exm2168873 8 21937926 [A/C] NM_001114137,NM_001114139,NM_001114136,NM_001114135,NM_001978,NM_001114138 EPB49,EPB49,EPB49,EPB49,EPB49,EPB49 EXON Missense_Q302K,Missense_Q277K,Missense_Q302K,Missense_Q302K,Missense_Q302K,Missense_Q302K exm687061 8 21938876 [A/G] NM_001114137,NM_001114139,NM_001114136,NM_001114135,NM_001978,NM_001114138 EPB49,EPB49,EPB49,EPB49,EPB49,EPB49 EXON Missense_E352K,Missense_E327K,Missense_E374K,Missense_E374K,Missense_E374K,Missense_E352K exm687086 8 21955034 [T/C] NM_022749 FAM160B2 EXON Missense_P102L exm2168899 8 21955043 [A/G] NM_022749 FAM160B2 EXON Missense_R105Q exm687103 8 21955598 [C/G] NM_022749 FAM160B2 EXON Missense_R182T exm687106 8 21955672 [A/G] NM_022749 FAM160B2 EXON Missense_D207N exm687113 8 21955753 [A/G] NM_022749 FAM160B2 EXON Missense_E234K exm687115 8 21955765 [T/G] NM_022749 FAM160B2 EXON Missense_G238C exm687117 8 21955784 [A/C] NM_022749 FAM160B2 EXON Missense_N244T exm687120 8 21955959 [T/A] NM_022749 FAM160B2 EXON Missense_Q265L exm687123 8 21956027 [A/G] NM_022749 FAM160B2 EXON Missense_A288T exm687125 8 21956048 [T/C] NM_022749 FAM160B2 EXON Missense_R295W exm687128 8 21956096 [A/G] NM_022749 FAM160B2 EXON Missense_A311T exm687129 8 21956108 [A/G] NM_022749 FAM160B2 EXON Missense_T315A exm687132 8 21956488 [T/C] NM_022749 FAM160B2 EXON Missense_S332F exm2168917 8 21956804 [T/G] NM_022749 FAM160B2 EXON Missense_D362Y exm687151 8 21957391 [A/G] NM_022749 FAM160B2 EXON Missense_H443R exm687164 8 21958401 [A/G] NM_022749 FAM160B2 EXON Missense_G512S exm687175 8 21959340 [A/G] NM_022749 FAM160B2 EXON Missense_R610H exm687176 8 21959348 [T/C] NM_022749 FAM160B2 EXON Missense_R613W exm687180 8 21959728 [G/C] NM_022749 FAM160B2 EXON Missense_L632V exm687183 8 21960045 [A/G] NM_022749 FAM160B2 EXON Missense_G667R exm687184 8 21960084 [T/C] NM_022749 FAM160B2 EXON Missense_P680S exm687185 8 21960096 [T/C] NM_022749 FAM160B2 EXON Missense_L684F exm687198 8 21964856 [A/G] NM_024815 NUDT18 EXON Synonymous_L309L exm687201 8 21964944 [A/C] NM_024815 NUDT18 EXON Missense_S280I exm687202 8 21965061 [T/C] NM_024815 NUDT18 EXON Missense_C241Y exm687208 8 21965168 [T/C] NM_024815 NUDT18 EXON Synonymous_L205L exm687212 8 21965274 [T/C] NM_024815 NUDT18 EXON Missense_R170H exm2168946 8 21965325 [A/G] NM_024815 NUDT18 EXON Missense_P153L exm687216 8 21965331 [A/G] NM_024815 NUDT18 EXON Missense_P151L exm687217 8 21965372 [T/C] NM_024815 NUDT18 EXON Synonymous_A137A exm687221 8 21965801 [A/C] NM_024815 NUDT18 EXON Synonymous_L73L exm687226 8 21965846 [T/C] NM_024815 NUDT18 EXON Synonymous_L58L exm687227 8 21965847 [A/G] NM_024815 NUDT18 EXON Missense_L58P exm687259 8 21974516 [T/C] NM_018411,NM_005144 HR,HR EXON Silent,Missense_A1084T exm687276 8 21976710 [T/C] NM_018411,NM_005144 HR,HR EXON Missense_T1022A,Missense_T1022A exm687277 8 21976782 [A/G] NM_018411,NM_005144 HR,HR EXON Missense_R998W,Missense_R998W exm687281 8 21977305 [T/C] NM_018411,NM_005144 HR,HR EXON Missense_R982H,Missense_R982H exm687289 8 21977898 [T/G] NM_018411,NM_005144 HR,HR EXON Missense_S911R,Missense_S911R exm687307 8 21978372 [T/C] NM_018411,NM_005144 HR,HR EXON Missense_G823S,Missense_G823S exm687311 8 21978578 [A/G] NM_018411,NM_005144 HR,HR EXON Synonymous_S789S,Synonymous_S789S exm687313 8 21978591 [A/G] NM_018411,NM_005144 HR,HR EXON Missense_P785L,Missense_P785L exm687322 8 21978696 [T/C] NM_018411,NM_005144 HR,HR EXON Missense_R750Q,Missense_R750Q exm687323 8 21978705 [T/C] NM_018411,NM_005144 HR,HR EXON Missense_R747H,Missense_R747H exm687345 8 21981218 [T/C] NM_018411,NM_005144 HR,HR EXON Missense_R620Q,Missense_R620Q exm2246740 8 21981219 [G/C] NM_018411,NM_005144 HR,HR EXON Missense_R620G,Missense_R620G exm687349 8 21981305 [T/C] NM_018411,NM_005144 HR,HR EXON Missense_E591G,Missense_E591G exm687350 8 21982847 [A/G] NM_018411,NM_005144 HR,HR EXON Missense_A576V,Missense_A576V exm2246741 8 21982862 [T/C] NM_018411,NM_005144 HR,HR EXON Missense_R571Q,Missense_R571Q exm687359 8 21982986 [T/C] NM_018411,NM_005144 HR,HR EXON Missense_E530K,Missense_E530K exm687360 8 21982991 [T/C] NM_018411,NM_005144 HR,HR EXON Missense_Q528R,Missense_Q528R exm687361 8 21982997 [A/G] NM_018411,NM_005144 HR,HR EXON Missense_L526P,Missense_L526P exm687367 8 21983099 [A/G] NM_018411,NM_005144 HR,HR EXON Missense_R518W,Missense_R518W exm687370 8 21983134 [T/C] NM_018411,NM_005144 HR,HR EXON Missense_E506G,Missense_E506G exm687371 8 21983144 [T/C] NM_018411,NM_005144 HR,HR EXON Missense_A503T,Missense_A503T exm687375 8 21983182 [A/C] NM_018411,NM_005144 HR,HR EXON Missense_L490R,Missense_L490R exm687387 8 21984609 [A/C] NM_018411,NM_005144 HR,HR EXON Missense_V449G,Missense_V449G exm687394 8 21984679 [A/G] NM_018411,NM_005144 HR,HR EXON Missense_P426S,Missense_P426S exm687395 8 21984696 [T/C] NM_018411,NM_005144 HR,HR EXON Missense_Q420R,Missense_Q420R exm687396 8 21984700 [T/C] NM_018411,NM_005144 HR,HR EXON Missense_V419I,Missense_V419I exm687403 8 21984765 [T/C] NM_018411,NM_005144 HR,HR EXON Missense_C397Y,Missense_C397Y exm687405 8 21984787 [C/G] NM_018411,NM_005144 HR,HR EXON Missense_Q390E,Missense_Q390E exm687408 8 21984900 [A/G] NM_018411,NM_005144 HR,HR EXON Missense_A352V,Missense_A352V exm687409 8 21984939 [T/C] NM_018411,NM_005144 HR,HR EXON Missense_G339D,Missense_G339D exm687411 8 21984945 [T/C] NM_018411,NM_005144 HR,HR EXON Missense_G337D,Missense_G337D exm687415 8 21984984 [T/C] NM_018411,NM_005144 HR,HR EXON Missense_R324Q,Missense_R324Q exm687416 8 21984985 [A/G] NM_018411,NM_005144 HR,HR EXON Missense_R324W,Missense_R324W exm687418 8 21984999 [A/G] NM_018411,NM_005144 HR,HR EXON Missense_P319L,Missense_P319L exm687435 8 21986146 [T/G] NM_018411,NM_005144 HR,HR EXON Missense_P180T,Missense_P180T exm687448 8 21986479 [A/G] NM_018411,NM_005144 HR,HR EXON Missense_P69S,Missense_P69S exm687452 8 21986496 [C/G] NM_018411,NM_005144 HR,HR EXON Missense_P63R,Missense_P63R exm687453 8 21986500 [T/G] NM_018411,NM_005144 HR,HR EXON Missense_P62T,Missense_P62T exm687454 8 21986565 [A/G] NM_018411,NM_005144 HR,HR EXON Missense_P40L,Missense_P40L exm687460 8 21986647 [T/C] NM_018411,NM_005144 HR,HR EXON Missense_T13A,Missense_T13A exm687468 8 21996040 [T/C] NM_025232 REEP4 EXON Missense_R245Q exm687475 8 21996199 [A/G] NM_025232 REEP4 EXON Missense_R221C exm687479 8 21996229 [C/G] NM_025232 REEP4 EXON Missense_P211A exm687486 8 21996295 [T/C] NM_025232 REEP4 EXON Missense_G189R exm687488 8 21996300 [T/C] NM_025232 REEP4 EXON Missense_R187Q exm687490 8 21996453 [T/C] NM_025232 REEP4 EXON Missense_R180Q exm687491 8 21996454 [A/G] NM_025232 REEP4 EXON Missense_R180W exm687495 8 21996546 [T/C] NM_025232 REEP4 EXON Missense_R149Q exm687498 8 21996556 [T/C] NM_025232 REEP4 EXON Missense_G146S exm687532 8 22005750 [T/C] NM_139278 LGI3 EXON Missense_A524T exm687536 8 22005885 [A/G] NM_139278 LGI3 EXON Missense_R479C exm687539 8 22005950 [A/G] NM_139278 LGI3 EXON Missense_S457L exm687540 8 22005957 [A/G] NM_139278 LGI3 EXON Missense_R455C exm687551 8 22006122 [T/C] NM_139278 LGI3 EXON Missense_V400I exm687553 8 22006166 [A/T] NM_139278 LGI3 EXON Missense_E385V exm687554 8 22006170 [T/C] NM_139278 LGI3 EXON Missense_G384S exm687560 8 22006260 [T/G] NM_139278 LGI3 EXON Missense_T354P exm2169041 8 22006305 [T/C] NM_139278 LGI3 EXON Missense_G339S exm687571 8 22006489 [A/G] NM_139278 LGI3 EXON Synonymous_A277A exm687580 8 22009127 [A/G] NM_139278 LGI3 EXON Missense_S235L exm2169048 8 22009397 [T/C] NM_139278 LGI3 EXON Missense_Q204R exm687607 8 22011662 [T/C] NM_139278 LGI3 EXON Missense_T139A exm687610 8 22011721 [A/G] NM_139278 LGI3 EXON Missense_I119T exm2169064 8 22013943 [C/G] NM_139278 LGI3 EXON Missense_P38R exm687631 8 22019351 [A/G] NM_001172410,NM_003018,NM_001172357 SFTPC,SFTPC,SFTPC EXON Missense_G4S,Missense_G4S,Missense_G4S exm687634 8 22019383 [A/G] NM_001172410,NM_003018,NM_001172357 SFTPC,SFTPC,SFTPC EXON Synonymous_P14P,Synonymous_P14P,Synonymous_P14P exm2169071 8 22020112 [A/G] NM_001172410,NM_003018,NM_001172357 SFTPC,SFTPC,SFTPC EXON Missense_R23Q,Missense_R23Q,Missense_R23Q exm687647 8 22020201 [A/G] NM_001172410,NM_003018,NM_001172357 SFTPC,SFTPC,SFTPC EXON Missense_A53T,Missense_A53T,Missense_A53T exm687664 8 22021037 [A/C] NM_001172410,NM_003018,NM_001172357 SFTPC,SFTPC,SFTPC EXON Missense_T138N,Missense_T138N,Missense_T138N exm687668 8 22021423 [G/C] NM_001172410,NM_003018,NM_001172357 SFTPC,SFTPC,SFTPC EXON Missense_A155P,Missense_A155P,Missense_A149P exm687671 8 22021460 [A/G] NM_001172410,NM_003018,NM_001172357 SFTPC,SFTPC,SFTPC EXON Missense_R167Q,Missense_R167Q,Missense_R161Q exm687673 8 22021501 [G/C] NM_001172410,NM_003018,NM_001172357 SFTPC,SFTPC,SFTPC EXON Missense_L181V,Missense_L181V,Missense_L175V exm687676 8 22021517 [A/G] NM_001172410,NM_003018,NM_001172357 SFTPC,SFTPC,SFTPC EXON Missense_S186N,Missense_S186N,Missense_S180N exm687695 8 22031177 [T/G] NR_033404,NR_033403,NM_006129,NM_001199 BMP1,BMP1,BMP1,BMP1 EXON Silent,Silent,Missense_A71S,Missense_A71S exm687696 8 22031192 [T/C] NR_033404,NR_033403,NM_006129,NM_001199 BMP1,BMP1,BMP1,BMP1 EXON Silent,Silent,Missense_R76W,Missense_R76W exm687698 8 22031205 [A/G] NR_033404,NR_033403,NM_006129,NM_001199 BMP1,BMP1,BMP1,BMP1 EXON Silent,Silent,Missense_R80H,Missense_R80H exm687700 8 22033703 [T/C] NR_033404,NR_033403,NM_006129,NM_001199 BMP1,BMP1,BMP1,BMP1 EXON Silent,Silent,Missense_P104S,Missense_P104S exm687704 8 22033787 [A/G] NR_033404,NR_033403,NM_006129,NM_001199 BMP1,BMP1,BMP1,BMP1 EXON Silent,Silent,Missense_D132N,Missense_D132N exm687734 8 22049596 [A/G] NR_033404,NR_033403,NM_006129,NM_001199 BMP1,BMP1,BMP1,BMP1 EXON Silent,Silent,Missense_R371H,Missense_R371H exm687743 8 22051622 [A/G] NR_033404,NR_033403,NM_006129,NM_001199 BMP1,BMP1,BMP1,BMP1 EXON Silent,Silent,Missense_R411H,Missense_R411H exm687745 8 22051639 [T/C] NR_033404,NR_033403,NM_006129,NM_001199 BMP1,BMP1,BMP1,BMP1 EXON Silent,Silent,Missense_R417C,Missense_R417C exm687751 8 22052076 [A/C] NR_033404,NR_033403,NM_006129,NM_001199 BMP1,BMP1,BMP1,BMP1 EXON Silent,Silent,Missense_H472Q,Missense_H472Q exm687762 8 22052363 [T/C] NR_033404,NR_033403,NM_006129,NM_001199 BMP1,BMP1,BMP1,BMP1 EXON Silent,Silent,Missense_R524C,Missense_R524C exm687766 8 22052390 [C/G] NR_033404,NR_033403,NM_006129,NM_001199 BMP1,BMP1,BMP1,BMP1 EXON Silent,Silent,Missense_G533R,Missense_G533R exm687837 8 22058657 [T/C] NR_033404,NR_033403,NM_006129,NM_001199 BMP1,BMP1,BMP1,BMP1 EXON Silent,Silent,Silent,Missense_R712W exm687839 8 22058684 [T/C] NR_033404,NR_033403,NM_006129,NM_001199 BMP1,BMP1,BMP1,BMP1 EXON Silent,Silent,Silent,Nonsense_R721X exm687849 8 22059342 [A/G] NR_033403,NM_006129 BMP1,BMP1 EXON Silent,Missense_G712S exm687851 8 22059345 [A/G] NR_033403,NM_006129 BMP1,BMP1 EXON Silent,Missense_G713S exm687855 8 22059363 [A/G] NR_033403,NM_006129 BMP1,BMP1 EXON Silent,Missense_V719I exm687874 8 22064886 [A/G] NR_033403,NM_006129 BMP1,BMP1 EXON Silent,Missense_R811Q exm687881 8 22064942 [A/G] NR_033403,NM_006129 BMP1,BMP1 EXON Silent,Missense_V830I exm687885 8 22065000 [A/G] NR_033403,NM_006129 BMP1,BMP1 EXON Silent,Missense_R849Q exm687892 8 22066976 [A/G] NR_033403,NM_006129 BMP1,BMP1 EXON Silent,Missense_R865Q exm687897 8 22067086 [A/G] NR_033403,NM_006129 BMP1,BMP1 EXON Silent,Missense_V902M exm687915 8 22078982 [T/C] NM_001099335,NM_014759 PHYHIP,PHYHIP EXON Missense_D293N,Missense_D293N exm687918 8 22079030 [A/G] NM_001099335,NM_014759 PHYHIP,PHYHIP EXON Missense_R277C,Missense_R277C exm687994 8 22105670 [A/G] NM_001722 POLR3D EXON Missense_N122S exm688010 8 22106638 [T/C] NM_001722 POLR3D EXON Missense_P246L exm688012 8 22106646 [A/G] NM_001722 POLR3D EXON Missense_V249I exm688044 8 22136913 [A/G] NM_018068,NM_001135721 PIWIL2,PIWIL2 EXON Missense_R5Q,Missense_R5Q exm688045 8 22136916 [G/C] NM_018068,NM_001135721 PIWIL2,PIWIL2 EXON Missense_P6R,Missense_P6R exm688050 8 22137071 [A/G] NM_018068,NM_001135721 PIWIL2,PIWIL2 EXON Missense_S58G,Missense_S58G exm688052 8 22137086 [A/C] NM_018068,NM_001135721 PIWIL2,PIWIL2 EXON Missense_P63T,Missense_P63T exm688056 8 22138693 [A/C] NM_018068,NM_001135721 PIWIL2,PIWIL2 EXON Missense_P87T,Missense_P87T exm688058 8 22138708 [A/G] NM_018068,NM_001135721 PIWIL2,PIWIL2 EXON Missense_M92V,Missense_M92V exm688061 8 22138929 [T/C] NM_018068,NM_001135721 PIWIL2,PIWIL2 EXON Missense_V109A,Missense_V109A exm688062 8 22138932 [A/G] NM_018068,NM_001135721 PIWIL2,PIWIL2 EXON Missense_R110H,Missense_R110H exm688063 8 22138953 [C/G] NM_018068,NM_001135721 PIWIL2,PIWIL2 EXON Missense_S117C,Missense_S117C exm688073 8 22140656 [T/C] NM_018068,NM_001135721 PIWIL2,PIWIL2 EXON Missense_R179W,Missense_R179W exm688074 8 22140657 [A/G] NM_018068,NM_001135721 PIWIL2,PIWIL2 EXON Missense_R179Q,Missense_R179Q exm2169223 8 22145047 [T/G] NM_018068,NM_001135721 PIWIL2,PIWIL2 EXON Missense_N250K,Missense_N250K exm688095 8 22146113 [A/G] NM_018068,NM_001135721 PIWIL2,PIWIL2 EXON Missense_Q307R,Missense_Q307R exm688103 8 22147412 [A/G] NM_018068,NM_001135721 PIWIL2,PIWIL2 EXON Missense_T347A,Missense_T347A exm688104 8 22147438 [C/G] NM_018068,NM_001135721 PIWIL2,PIWIL2 EXON Missense_H355Q,Missense_H355Q exm2169233 8 22147439 [A/G] NM_018068,NM_001135721 PIWIL2,PIWIL2 EXON Missense_R356G,Missense_R356G exm688111 8 22161634 [T/C] NM_018068,NM_001135721 PIWIL2,PIWIL2 EXON Missense_R428C,Missense_R428C exm688134 8 22165581 [T/C] NM_018068,NM_001135721 PIWIL2,PIWIL2 EXON Missense_H561Y,Missense_H561Y exm688138 8 22167475 [T/C] NM_018068,NM_001135721 PIWIL2,PIWIL2 EXON Missense_I563T,Missense_I563T exm688144 8 22168668 [A/T] NM_018068,NM_001135721 PIWIL2,PIWIL2 EXON Missense_M615K,Missense_M615K exm688145 8 22168677 [T/C] NM_018068,NM_001135721 PIWIL2,PIWIL2 EXON Missense_A618V,Missense_A618V exm688147 8 22168712 [A/G] NM_018068,NM_001135721 PIWIL2,PIWIL2 EXON Missense_G630S,Missense_G630S exm688151 8 22168751 [A/G] NM_018068,NM_001135721 PIWIL2,PIWIL2 EXON Missense_E643K,Missense_E643K exm688161 8 22172563 [A/G] NM_018068,NM_001135721 PIWIL2,PIWIL2 EXON Missense_G705S,Missense_G705S exm688164 8 22172605 [T/C] NM_018068,NM_001135721 PIWIL2,PIWIL2 EXON Missense_L719F,Missense_L719F exm688180 8 22210502 [G/C] NM_018068,NM_001135721 PIWIL2,PIWIL2 EXON Missense_V812L,Missense_V812L exm688181 8 22210532 [C/G] NM_018068,NM_001135721 PIWIL2,PIWIL2 EXON Missense_L822V,Missense_L822V exm688186 8 22211863 [A/G] NM_018068,NM_001135721 PIWIL2,PIWIL2 EXON Missense_A913T,Missense_A913T exm688198 8 22262246 [C/G] NM_015359,NM_001135154,NM_001128431,NM_001135153 SLC39A14,SLC39A14,SLC39A14,SLC39A14 EXON Missense_P8R,Missense_P8R,Missense_P8R,Missense_P8R exm688202 8 22262321 [T/C] NM_015359,NM_001135154,NM_001128431,NM_001135153 SLC39A14,SLC39A14,SLC39A14,SLC39A14 EXON Missense_L33P,Missense_L33P,Missense_L33P,Missense_L33P exm688219 8 22267473 [T/A] NM_015359,NM_001135154,NM_001128431,NM_001135153 SLC39A14,SLC39A14,SLC39A14,SLC39A14 EXON Missense_F158I,Silent,Silent,Silent exm688233 8 22273369 [A/G] NM_015359,NM_001135154,NM_001128431,NM_001135153 SLC39A14,SLC39A14,SLC39A14,SLC39A14 EXON Missense_G280R,Missense_G280R,Missense_G280R,Missense_G280R exm2270955 8 22273687 [T/C] NM_015359,NM_001135154,NM_001128431,NM_001135153 SLC39A14,SLC39A14,SLC39A14,SLC39A14 EXON Synonymous_H347H,Synonymous_H347H,Synonymous_H347H,Synonymous_H347H exm688258 8 22277207 [A/G] NM_015359,NM_001135154,NM_001128431,NM_001135153 SLC39A14,SLC39A14,SLC39A14,SLC39A14 EXON Missense_G492E,Silent,Missense_G492E,Missense_G492E exm688270 8 22332544 [A/C] NM_001243974,NM_001243975,NM_005605 PPP3CC,PPP3CC,PPP3CC EXON Missense_K43Q,Missense_K43Q,Missense_K43Q exm2169311 8 22333014 [A/G] NM_001243974,NM_001243975,NM_005605 PPP3CC,PPP3CC,PPP3CC EXON Synonymous_V83V,Synonymous_V83V,Synonymous_V83V exm688275 8 22333041 [T/G] NM_001243974,NM_001243975,NM_005605 PPP3CC,PPP3CC,PPP3CC EXON Missense_F92L,Missense_F92L,Missense_F92L exm688282 8 22368602 [A/G] NM_001243974,NM_001243975,NM_005605 PPP3CC,PPP3CC,PPP3CC EXON Missense_R163Q,Missense_R163Q,Missense_R163Q exm688285 8 22370830 [A/G] NM_001243974,NM_001243975,NM_005605 PPP3CC,PPP3CC,PPP3CC EXON Missense_A219T,Missense_A219T,Missense_A219T exm688286 8 22370924 [A/G] NM_001243974,NM_001243975,NM_005605 PPP3CC,PPP3CC,PPP3CC EXON Missense_R250Q,Missense_R250Q,Missense_R250Q exm688306 8 22389749 [A/G] NM_001243974,NM_001243975,NM_005605 PPP3CC,PPP3CC,PPP3CC EXON Missense_V394I,Missense_V385I,Missense_V385I exm688308 8 22389818 [T/C] NM_001243974,NM_001243975,NM_005605 PPP3CC,PPP3CC,PPP3CC EXON Missense_R417W,Missense_R408W,Missense_R408W exm688309 8 22390450 [A/G] NM_001243974,NM_001243975,NM_005605 PPP3CC,PPP3CC,PPP3CC EXON Missense_V423M,Missense_V414M,Missense_V414M exm688317 8 22398155 [A/G] NM_001243974,NM_001243975,NM_005605 PPP3CC,PPP3CC,PPP3CC EXON Missense_K469R,Missense_K450R,Missense_K460R exm688325 8 22398244 [T/A] NM_001243974,NM_001243975,NM_005605 PPP3CC,PPP3CC,PPP3CC EXON Missense_M499L,Missense_M480L,Missense_M490L exm688327 8 22398278 [T/C] NM_001243974,NM_001243975,NM_005605 PPP3CC,PPP3CC,PPP3CC EXON Missense_A510V,Missense_A491V,Missense_A501V exm-rs4872511 8 22400989 [T/C] exm-rs2280890 8 22404840 [T/C] exm688337 8 22412114 [G/C] NM_005775 SORBS3 EXON Missense_G32A exm688339 8 22412121 [A/G] NM_005775 SORBS3 EXON Synonymous_R34R exm688347 8 22412478 [A/G] NM_005775 SORBS3 EXON Missense_A69T exm688348 8 22412491 [T/C] NM_005775 SORBS3 EXON Missense_P73L exm688350 8 22414255 [A/G] NM_005775 SORBS3 EXON Missense_G83D exm688353 8 22414365 [A/G] NM_005775 SORBS3 EXON Missense_K120E exm688359 8 22414416 [T/C] NM_005775 SORBS3 EXON Nonsense_R137X exm688361 8 22415669 [T/C] NM_005775 SORBS3 EXON Missense_R148W exm688366 8 22418855 [T/G] NM_005775 SORBS3 EXON Missense_Q162H exm688368 8 22418885 [A/G] NM_005775 SORBS3 EXON Synonymous_R172R exm688382 8 22421818 [T/C] NM_005775 SORBS3 EXON Missense_V233A exm688384 8 22421827 [T/C] NM_005775 SORBS3 EXON Missense_V236A exm688386 8 22421880 [A/G] NM_005775 SORBS3 EXON Missense_R254G exm2275291 8 22421882 [T/G] NM_005775 SORBS3 EXON Missense_R254S exm688392 8 22422002 [A/G] NM_005775 SORBS3 EXON Missense_D262N exm688394 8 22422009 [G/C] NM_005775 SORBS3 EXON Missense_G264A exm688396 8 22422030 [T/C] NM_005775 SORBS3 EXON Missense_I271T exm688403 8 22422805 [A/G] NM_005775 SORBS3 EXON Missense_E281K exm688416 8 22423972 [G/C] NM_005775,NM_001018003 SORBS3,SORBS3 EXON Missense_D355E,Missense_D13E exm688427 8 22424647 [T/C] NM_005775,NM_001018003 SORBS3,SORBS3 EXON Missense_H422Y,Missense_H80Y exm688435 8 22426701 [T/C] NM_005775,NM_001018003 SORBS3,SORBS3 EXON Missense_P449L,Missense_P107L exm688445 8 22428529 [T/C] NM_005775,NM_001018003 SORBS3,SORBS3 EXON Missense_S513F,Missense_S171F exm688446 8 22428540 [T/C] NM_005775,NM_001018003 SORBS3,SORBS3 EXON Missense_R517W,Missense_R175W exm688457 8 22428640 [A/G] NM_005775,NM_001018003 SORBS3,SORBS3 EXON Missense_R550H,Missense_R208H exm688458 8 22428658 [T/C] NM_005775,NM_001018003 SORBS3,SORBS3 EXON Missense_I556T,Missense_I214T exm688466 8 22428708 [A/G] NM_005775,NM_001018003 SORBS3,SORBS3 EXON Missense_T573A,Missense_T231A exm688468 8 22428714 [A/G] NM_005775,NM_001018003 SORBS3,SORBS3 EXON Missense_E575K,Missense_E233K exm688471 8 22429238 [A/G] NM_005775,NM_001018003 SORBS3,SORBS3 EXON Missense_G584D,Missense_G242D exm2169393 8 22429858 [A/G] NM_005775,NM_001018003 SORBS3,SORBS3 EXON Missense_R618Q,Missense_R276Q exm688479 8 22432189 [A/G] NM_005775,NM_001018003 SORBS3,SORBS3 EXON Missense_R655Q,Missense_R313Q exm688491 8 22438898 [A/G] NM_021630,NM_198042,NM_176871 PDLIM2,PDLIM2,PDLIM2 EXON Missense_E284K,Missense_E34K,Missense_E34K exm688496 8 22438967 [A/G] NM_021630,NM_198042,NM_176871 PDLIM2,PDLIM2,PDLIM2 EXON Missense_A307T,Missense_A57T,Missense_A57T exm688503 8 22442395 [T/C] NM_021630,NM_198042,NM_176871 PDLIM2,PDLIM2,PDLIM2 EXON Missense_R353C,Missense_R103C,Missense_R103C exm688510 8 22442540 [A/G] NM_021630,NM_198042,NM_176871 PDLIM2,PDLIM2,PDLIM2 EXON Missense_R359K,Missense_R109K,Missense_R109K exm2169415 8 22442908 [A/G] NM_021630,NM_198042,NM_176871 PDLIM2,PDLIM2,PDLIM2 EXON Missense_R429Q,Missense_R179Q,Missense_R179Q exm688531 8 22447142 [C/G] NM_021630,NM_198042,NM_176871 PDLIM2,PDLIM2,PDLIM2 EXON Missense_D467E,Missense_D217E,Missense_D217E exm688536 8 22447245 [A/G] NM_021630,NM_198042,NM_176871 PDLIM2,PDLIM2,PDLIM2 EXON Missense_E502K,Missense_E252K,Missense_E252K exm688544 8 22449181 [T/C] NM_021630,NM_198042,NM_176871 PDLIM2,PDLIM2,PDLIM2 EXON Missense_A544V,Silent,Missense_A294V exm688559 8 22451394 [A/G] NM_021630,NM_198042,NM_176871 PDLIM2,PDLIM2,PDLIM2 EXON Missense_A594T,Silent,Silent exm688577 8 22458406 [A/G] NM_001198827,NM_001013842,NM_173686 C8orf58,C8orf58,C8orf58 EXON Missense_E18K,Missense_E18K,Missense_E18K exm688579 8 22458458 [A/G] NM_001198827,NM_001013842,NM_173686 C8orf58,C8orf58,C8orf58 EXON Missense_R35Q,Missense_R35Q,Missense_R35Q exm688588 8 22458623 [T/C] NM_001198827,NM_001013842,NM_173686 C8orf58,C8orf58,C8orf58 EXON Missense_S90F,Missense_S90F,Missense_S90F exm688594 8 22458721 [T/C] NM_001198827,NM_001013842,NM_173686 C8orf58,C8orf58,C8orf58 EXON Missense_R123W,Missense_R123W,Missense_R123W exm688597 8 22458761 [A/G] NM_001198827,NM_001013842,NM_173686 C8orf58,C8orf58,C8orf58 EXON Missense_R136H,Missense_R136H,Missense_R136H exm688614 8 22459488 [T/C] NM_001198827,NM_001013842,NM_173686 C8orf58,C8orf58,C8orf58 EXON Missense_P221S,Missense_P221S,Missense_P221S exm688623 8 22459715 [A/G] NM_001198827,NM_001013842,NM_173686 C8orf58,C8orf58,C8orf58 EXON Missense_A257T,Missense_A257T,Missense_A257T exm688624 8 22459730 [T/C] NM_001198827,NM_001013842,NM_173686 C8orf58,C8orf58,C8orf58 EXON Missense_P262S,Missense_P262S,Missense_P262S exm688625 8 22459763 [T/C] NM_001198827,NM_001013842,NM_173686 C8orf58,C8orf58,C8orf58 EXON Missense_P273S,Missense_P273S,Missense_P273S exm688628 8 22459801 [G/C] NM_001198827,NM_001013842,NM_173686 C8orf58,C8orf58,C8orf58 EXON Missense_H285Q,Missense_H285Q,Missense_H285Q exm688633 8 22460101 [T/C] NM_001198827,NM_001013842,NM_173686 C8orf58,C8orf58,C8orf58 EXON Silent,Missense_R311W,Missense_R303W exm688638 8 22460743 [C/G] NM_001198827,NM_001013842,NM_173686 C8orf58,C8orf58,C8orf58 EXON Silent,Missense_C341S,Missense_C333S exm688642 8 22460761 [C/G] NM_001198827,NM_001013842,NM_173686 C8orf58,C8orf58,C8orf58 EXON Silent,Missense_T347S,Missense_T339S exm2273447 8 22460893 [A/G] NM_001198827,NM_001013842,NM_173686 C8orf58,C8orf58,C8orf58 EXON Silent,Silent,Silent exm2258781 8 22463319 [A/G] NR_033902,NM_021174 KIAA1967,KIAA1967 EXON Silent,Synonymous_P11P exm688649 8 22463319 [A/G] NR_033902,NM_021174 KIAA1967,KIAA1967 EXON Silent,Synonymous_P11P exm2258782 8 22465513 [T/G] NR_033902,NM_021174 KIAA1967,KIAA1967 EXON Silent,Synonymous_L173L exm688674 8 22471702 [A/C] NR_033902,NM_021174 KIAA1967,KIAA1967 EXON Silent,Missense_P268T exm688682 8 22471792 [A/G] NR_033902,NM_021174 KIAA1967,KIAA1967 EXON Silent,Missense_I298V exm688707 8 22472949 [T/C] NR_033902,NM_021174 KIAA1967,KIAA1967 EXON Silent,Missense_A406V exm688711 8 22472960 [T/C] NR_033902,NM_021174 KIAA1967,KIAA1967 EXON Silent,Missense_Y410H exm688714 8 22472970 [T/C] NR_033902,NM_021174 KIAA1967,KIAA1967 EXON Silent,Missense_P413L exm688717 8 22472985 [A/G] NR_033902,NM_021174 KIAA1967,KIAA1967 EXON Silent,Missense_R418Q exm688718 8 22473012 [T/C] NR_033902,NM_021174 KIAA1967,KIAA1967 EXON Silent,Missense_P427L exm688726 8 22473222 [T/G] NR_033902,NM_021174 KIAA1967,KIAA1967 EXON Silent,Missense_D469Y exm688748 8 22473646 [A/C] NR_033902,NM_021174 KIAA1967,KIAA1967 EXON Silent,Missense_E577A exm688749 8 22473648 [A/G] NR_033902,NM_021174 KIAA1967,KIAA1967 EXON Silent,Missense_A578T exm688755 8 22473725 [G/C] NR_033902,NM_021174 KIAA1967,KIAA1967 EXON Silent,Missense_Q603H exm688765 8 22474933 [A/G] NR_033902,NM_021174 KIAA1967,KIAA1967 EXON Silent,Missense_K616E exm688769 8 22475050 [C/G] NR_033902,NM_021174 KIAA1967,KIAA1967 EXON Silent,Missense_L655V exm688787 8 22476230 [T/A] NR_033902,NM_021174 KIAA1967,KIAA1967 EXON Silent,Missense_E774V exm688789 8 22476240 [T/C] NR_033902,NM_021174 KIAA1967,KIAA1967 EXON Silent,Synonymous_F777F exm688793 8 22476360 [G/C] NR_033902,NM_021174 KIAA1967,KIAA1967 EXON Silent,Missense_P785A exm688808 8 22476708 [T/C] NR_033902,NM_021174 KIAA1967,KIAA1967 EXON Silent,Missense_T856M exm688810 8 22476746 [A/G] NR_033902,NM_021174 KIAA1967,KIAA1967 EXON Silent,Missense_A869T exm688847 8 22481483 [T/C] NM_018688 BIN3 EXON Missense_Y187C exm688859 8 22481833 [A/G] NM_018688 BIN3 EXON Missense_R128W exm688869 8 22488004 [A/G] NM_018688 BIN3 EXON Missense_T83M exm688876 8 22494441 [A/G] NM_018688 BIN3 EXON Missense_L31P exm688890 8 22548029 [A/G] NM_004430,NM_001199881,NM_001199880 EGR3,EGR3,EGR3 EXON Missense_A374V,Missense_A320V,Missense_A336V exm688891 8 22548030 [T/C] NM_004430,NM_001199881,NM_001199880 EGR3,EGR3,EGR3 EXON Missense_A374T,Missense_A320T,Missense_A336T exm688906 8 22548543 [T/C] NM_004430,NM_001199881,NM_001199880 EGR3,EGR3,EGR3 EXON Missense_M203V,Missense_M149V,Missense_M165V exm688939 8 22570935 [T/C] NM_144962 PEBP4 EXON Missense_E211G exm688941 8 22570967 [G/C] NM_144962 PEBP4 EXON Nonsense_Y200X exm688947 8 22571049 [A/C] NM_144962 PEBP4 EXON Missense_G173V exm688950 8 22582428 [T/G] NM_144962 PEBP4 EXON Missense_R149S exm688954 8 22582461 [G/C] NM_144962 PEBP4 EXON Missense_A138P exm688955 8 22582468 [A/G] NM_144962 PEBP4 EXON Synonymous_A135A exm688959 8 22584727 [T/C] NM_144962 PEBP4 EXON Missense_D122N exm2258784 8 22669393 [A/G] NM_144962 PEBP4 Silent exm688964 8 22675174 [A/T] NM_144962 PEBP4 EXON Missense_R111S exm688965 8 22675196 [T/C] NM_144962 PEBP4 EXON Missense_E104G exm2169562 8 22675244 [C/G] NM_144962 PEBP4 EXON Missense_A88G exm688967 8 22777697 [A/G] NM_144962 PEBP4 EXON Synonymous_D86D exm688969 8 22777710 [A/G] NM_144962 PEBP4 EXON Missense_P82L exm688971 8 22777722 [A/G] NM_144962 PEBP4 EXON Missense_I78T exm688975 8 22777789 [T/C] NM_144962 PEBP4 EXON Missense_I56V exm688978 8 22785097 [T/C] NM_144962 PEBP4 EXON Missense_Q44R exm2169570 8 22785112 [T/C] NM_144962 PEBP4 EXON Missense_D39G exm688984 8 22785169 [A/G] NM_144962 PEBP4 EXON Missense_V20A exm688985 8 22785182 [A/G] NM_144962 PEBP4 EXON Missense_L16F exm689003 8 22863582 [A/G] NM_001160036,NM_001160037,NM_015178 RHOBTB2,RHOBTB2,RHOBTB2 EXON Missense_I158V,Missense_I143V,Missense_I136V exm689032 8 22864546 [T/C] NM_001160036,NM_001160037,NM_015178 RHOBTB2,RHOBTB2,RHOBTB2 EXON Missense_P285L,Missense_P270L,Missense_P263L exm689038 8 22864588 [A/G] NM_001160036,NM_001160037,NM_015178 RHOBTB2,RHOBTB2,RHOBTB2 EXON Missense_R299H,Missense_R284H,Missense_R277H exm689051 8 22864846 [A/G] NM_001160036,NM_001160037,NM_015178 RHOBTB2,RHOBTB2,RHOBTB2 EXON Missense_R385H,Missense_R370H,Missense_R363H exm689052 8 22864860 [A/G] NM_001160036,NM_001160037,NM_015178 RHOBTB2,RHOBTB2,RHOBTB2 EXON Missense_D390N,Missense_D375N,Missense_D368N exm689055 8 22864873 [A/G] NM_001160036,NM_001160037,NM_015178 RHOBTB2,RHOBTB2,RHOBTB2 EXON Missense_R394Q,Missense_R379Q,Missense_R372Q exm689060 8 22864938 [A/G] NM_001160036,NM_001160037,NM_015178 RHOBTB2,RHOBTB2,RHOBTB2 EXON Missense_V416M,Missense_V401M,Missense_V394M exm689063 8 22865026 [T/C] NM_001160036,NM_001160037,NM_015178 RHOBTB2,RHOBTB2,RHOBTB2 EXON Missense_P445L,Missense_P430L,Missense_P423L exm2169596 8 22868060 [C/G] NM_001160036,NM_001160037,NM_015178 RHOBTB2,RHOBTB2,RHOBTB2 EXON Missense_P566A,Missense_P551A,Missense_P544A exm2169597 8 22868070 [A/G] NM_001160036,NM_001160037,NM_015178 RHOBTB2,RHOBTB2,RHOBTB2 EXON Missense_S569N,Missense_S554N,Missense_S547N exm689084 8 22868132 [A/G] NM_001160036,NM_001160037,NM_015178 RHOBTB2,RHOBTB2,RHOBTB2 EXON Missense_D590N,Missense_D575N,Missense_D568N exm689096 8 22873221 [A/G] NM_001160036,NM_001160037,NM_015178 RHOBTB2,RHOBTB2,RHOBTB2 EXON Missense_R666H,Missense_R651H,Missense_R644H exm689115 8 22874927 [T/C] NM_001160036,NM_001160037,NM_015178 RHOBTB2,RHOBTB2,RHOBTB2 EXON Missense_P732L,Missense_P717L,Missense_P710L exm689127 8 22880284 [A/G] NR_027140,NM_003842,NM_147187 TNFRSF10B,TNFRSF10B,TNFRSF10B EXON Silent,Missense_T408M,Missense_T379M exm689132 8 22880380 [A/G] NR_027140,NM_003842,NM_147187 TNFRSF10B,TNFRSF10B,TNFRSF10B EXON Silent,Missense_A376V,Missense_A347V exm2169606 8 22880453 [T/C] NR_027140,NM_003842,NM_147187 TNFRSF10B,TNFRSF10B,TNFRSF10B EXON Silent,Missense_D352N,Missense_D323N exm689140 8 22881769 [A/G] NR_027140,NM_003842,NM_147187 TNFRSF10B,TNFRSF10B,TNFRSF10B EXON Silent,Missense_P314L,Missense_P285L exm689144 8 22884737 [T/G] NR_027140,NM_003842,NM_147187 TNFRSF10B,TNFRSF10B,TNFRSF10B EXON Silent,Missense_T282N,Missense_T253N exm689153 8 22885246 [A/G] NR_027140,NM_003842,NM_147187 TNFRSF10B,TNFRSF10B,TNFRSF10B EXON Silent,Missense_R257C,Missense_R228C exm689157 8 22885843 [T/C] NR_027140,NM_003842,NM_147187 TNFRSF10B,TNFRSF10B,TNFRSF10B Silent,Silent,Silent exm689163 8 22886002 [A/G] NR_027140,NM_003842,NM_147187 TNFRSF10B,TNFRSF10B,TNFRSF10B EXON Silent,Missense_T197M,Silent exm689164 8 22886020 [A/G] NR_027140,NM_003842,NM_147187 TNFRSF10B,TNFRSF10B,TNFRSF10B EXON Silent,Missense_V191A,Silent exm689167 8 22886068 [T/G] NR_027140,NM_003842,NM_147187 TNFRSF10B,TNFRSF10B,TNFRSF10B EXON Silent,Missense_D175A,Missense_D175A exm689184 8 22900701 [A/G] NR_027140,NM_003842,NM_147187 TNFRSF10B,TNFRSF10B,TNFRSF10B EXON Silent,Missense_A67V,Missense_A67V exm689188 8 22900755 [A/G] NR_027140,NM_003842,NM_147187 TNFRSF10B,TNFRSF10B,TNFRSF10B EXON Silent,Missense_V49A,Missense_V49A exm689189 8 22926313 [A/G] NR_027140,NM_003842,NM_147187,NR_038873 TNFRSF10B,TNFRSF10B,TNFRSF10B,LOC286059 EXON Silent,Missense_P32L,Missense_P32L,Silent exm689197 8 22960654 [T/C] NR_046173,NM_003841 LOC254896,TNFRSF10C EXON Silent,Missense_T7I exm689200 8 22960677 [T/G] NR_046173,NM_003841 LOC254896,TNFRSF10C EXON Silent,Missense_V15F exm689209 8 22972220 [A/G] NM_003841 TNFRSF10C EXON Missense_V73M exm689212 8 22972245 [A/G] NM_003841 TNFRSF10C EXON Missense_N81S exm689215 8 22972282 [A/G] NM_003841 TNFRSF10C EXON Synonymous_S93S exm689224 8 22974270 [A/C] NM_003841 TNFRSF10C EXON Missense_N169T exm689225 8 22974278 [T/C] NM_003841 TNFRSF10C EXON Missense_P172S exm689240 8 22974500 [A/G] NM_003841 TNFRSF10C EXON Missense_V246I exm689245 8 22995385 [A/G] NM_003840 TNFRSF10D EXON Missense_X387R exm689248 8 22995438 [A/G] NM_003840 TNFRSF10D EXON Missense_S369F exm689255 8 22995487 [T/G] NM_003840 TNFRSF10D EXON Missense_L353M exm689258 8 22995702 [C/G] NM_003840 TNFRSF10D EXON Missense_D342E exm689259 8 22995707 [T/C] NM_003840 TNFRSF10D EXON Missense_A341T exm689261 8 22995710 [A/G] NM_003840 TNFRSF10D EXON Missense_S340P exm689264 8 23001970 [T/C] NM_003840 TNFRSF10D EXON Missense_R316H exm689265 8 23001988 [A/G] NM_003840 TNFRSF10D EXON Missense_L310S exm689266 8 23002009 [A/G] NM_003840 TNFRSF10D EXON Missense_L303P exm689268 8 23002030 [T/C] NM_003840 TNFRSF10D EXON Missense_Q296R exm689270 8 23002045 [C/G] NM_003840 TNFRSF10D EXON Missense_S291C exm2169664 8 23002091 [A/G] NM_003840 TNFRSF10D EXON Missense_R276C exm689278 8 23002124 [A/G] NM_003840 TNFRSF10D EXON Missense_P265S exm689281 8 23002135 [T/C] NM_003840 TNFRSF10D EXON Missense_R261Q exm689282 8 23002136 [A/G] NM_003840 TNFRSF10D EXON Missense_R261W exm689291 8 23003225 [A/G] NM_003840 TNFRSF10D EXON Missense_S231L exm689292 8 23003229 [A/T] NM_003840 TNFRSF10D EXON Missense_F230I exm689293 8 23003232 [A/C] NM_003840 TNFRSF10D EXON Missense_G229C exm689296 8 23003292 [T/G] NM_003840 TNFRSF10D EXON Missense_P209T exm689298 8 23003321 [A/G] NM_003840 TNFRSF10D EXON Missense_V199A exm689303 8 23003364 [A/C] NM_003840 TNFRSF10D EXON Missense_A185S exm689304 8 23003380 [G/C] NM_003840 TNFRSF10D EXON Missense_K179N exm689305 8 23003394 [A/G] NM_003840 TNFRSF10D EXON Missense_R175W exm689306 8 23003397 [A/G] NM_003840 TNFRSF10D EXON Missense_P174S exm689312 8 23004486 [A/G] NM_003840 TNFRSF10D EXON Missense_T157M exm-rs7464769 8 23007793 [T/C] NM_003840 TNFRSF10D Silent exm689324 8 23012437 [A/G] NM_003840 TNFRSF10D EXON Missense_V69A exm689331 8 23021346 [A/G] NM_003840 TNFRSF10D EXON Missense_P35S exm689332 8 23021397 [A/G] NM_003840 TNFRSF10D EXON Missense_R18C exm689337 8 23021414 [A/G] NM_003840 TNFRSF10D EXON Missense_S12L exm689342 8 23049208 [A/C] NM_003844 TNFRSF10A EXON Missense_X469L exm689348 8 23049292 [T/C] NM_003844 TNFRSF10A EXON Missense_R441K exm689352 8 23049343 [A/G] NM_003844 TNFRSF10A EXON Missense_S424L exm689367 8 23054646 [A/C] NM_003844 TNFRSF10A EXON Missense_E362D exm689368 8 23054662 [T/C] NM_003844 TNFRSF10A EXON Missense_G357D exm689371 8 23054713 [A/G] NM_003844 TNFRSF10A EXON Missense_P340L exm689374 8 23056778 [C/G] NM_003844 TNFRSF10A Silent exm689376 8 23056817 [T/C] NM_003844 TNFRSF10A EXON Missense_V326I exm689384 8 23056904 [T/G] NM_003844 TNFRSF10A EXON Missense_N297H exm689387 8 23056934 [A/G] NM_003844 TNFRSF10A EXON Nonsense_R287X exm689390 8 23056948 [T/C] NM_003844 TNFRSF10A EXON Missense_R282H exm689391 8 23056956 [A/T] NM_003844 TNFRSF10A EXON Nonsense_C279X exm689398 8 23058220 [T/G] NM_003844 TNFRSF10A EXON Missense_E228A exm689404 8 23059322 [T/C] NM_003844 TNFRSF10A EXON Missense_G210R exm689405 8 23059324 [G/C] NM_003844 TNFRSF10A EXON Missense_R209T exm689411 8 23060160 [C/G] NM_003844 TNFRSF10A Silent exm689414 8 23060256 [T/C] NM_003844 TNFRSF10A EXON Missense_H141R exm689416 8 23069635 [A/G] NM_003844 TNFRSF10A EXON Missense_P133S exm689419 8 23069691 [T/C] NM_003844 TNFRSF10A EXON Missense_H114R exm689420 8 23069697 [T/C] NM_003844 TNFRSF10A EXON Missense_K112R exm689422 8 23069718 [C/G] NM_003844 TNFRSF10A EXON Missense_P105R exm689436 8 23082477 [A/G] NM_003844 TNFRSF10A EXON Missense_T33I exm689441 8 23082543 [A/C] NM_003844 TNFRSF10A EXON Missense_G11V exm689453 8 23104413 [T/G] NM_152272 CHMP7 EXON Missense_V69L exm689457 8 23106860 [T/C] NM_152272 CHMP7 EXON Missense_A146V exm689471 8 23113997 [T/C] NM_152272 CHMP7 EXON Missense_R228C exm2169735 8 23115562 [T/C] NM_152272 CHMP7 EXON Missense_R270C exm2246778 8 23117740 [T/C] NM_152272 CHMP7 EXON Missense_P402S exm689507 8 23117743 [T/C] NM_152272 CHMP7 EXON Missense_R403C exm689524 8 23148940 [A/G] NM_001136108 R3HCC1 EXON Missense_V120M exm689529 8 23150851 [T/C] NM_001136108 R3HCC1 EXON Missense_T167I exm689532 8 23150878 [T/G] NM_001136108 R3HCC1 EXON Missense_L176R exm2258786 8 23152310 [A/G] NM_001136108 R3HCC1 EXON Synonymous_S188S exm689557 8 23156435 [A/G] NM_002318 LOXL2 EXON Missense_V720A exm689560 8 23159566 [T/C] NM_002318 LOXL2 EXON Missense_V703M exm689576 8 23167191 [T/C] NM_002318 LOXL2 EXON Missense_D624N exm689589 8 23167353 [T/G] NM_002318 LOXL2 EXON Missense_M570L exm689591 8 23167422 [T/C] NM_002318 LOXL2 EXON Missense_A547T exm689604 8 23174534 [A/G] NM_002318 LOXL2 EXON Missense_R522C exm689607 8 23174557 [A/G] NM_002318 LOXL2 EXON Missense_T514M exm689611 8 23177406 [T/C] NM_002318 LOXL2 EXON Missense_A488T exm2258787 8 23185977 [A/G] NM_002318 LOXL2 EXON Synonymous_D356D exm689635 8 23185997 [T/C] NM_002318 LOXL2 EXON Missense_V350I exm689639 8 23186030 [T/C] NM_002318 LOXL2 EXON Missense_V339M exm689654 8 23191110 [T/C] NM_002318 LOXL2 EXON Missense_R257H exm689664 8 23198590 [T/C] NM_002318,NR_038323 LOXL2,LOC100507156 EXON Missense_K220E,Silent exm689666 8 23198662 [A/G] NM_002318,NR_038323 LOXL2,LOC100507156 EXON Missense_R196C,Silent exm689671 8 23217622 [A/G] NM_002318,NR_038323 LOXL2,LOC100507156 EXON Missense_S171L,Silent exm689681 8 23217779 [T/C] NM_002318,NR_038323 LOXL2,LOC100507156 Silent,Silent exm689684 8 23225572 [T/C] NM_002318 LOXL2 EXON Missense_R98Q exm689687 8 23225606 [T/C] NM_002318 LOXL2 EXON Missense_D87N exm689694 8 23225653 [A/C] NM_002318 LOXL2 EXON Missense_R71L exm689698 8 23225699 [A/T] NM_002318 LOXL2 EXON Missense_I56F exm689699 8 23225708 [A/C] NM_002318 LOXL2 EXON Missense_V53L exm2169807 8 23225732 [A/G] NM_002318 LOXL2 EXON Missense_H45Y exm689702 8 23225762 [T/C] NM_002318 LOXL2 EXON Missense_E35K exm689705 8 23225791 [T/G] NM_002318 LOXL2 EXON Missense_A25E exm689721 8 23290518 [T/C] NM_001128930,NM_004901 ENTPD4,ENTPD4 EXON Missense_R583H,Missense_R591H exm689739 8 23292973 [G/C] NM_001128930,NM_004901 ENTPD4,ENTPD4 EXON Missense_K456N,Missense_K464N exm2169825 8 23294491 [T/C] NM_001128930,NM_004901 ENTPD4,ENTPD4 EXON Missense_M436V,Missense_M444V exm689745 8 23294517 [T/A] NM_001128930,NM_004901 ENTPD4,ENTPD4 EXON Missense_Y427F,Missense_Y435F exm689747 8 23294557 [A/G] NM_001128930,NM_004901 ENTPD4,ENTPD4 EXON Missense_H414Y,Missense_H422Y exm689751 8 23294572 [A/G] NM_001128930,NM_004901 ENTPD4,ENTPD4 EXON Missense_Y409H,Missense_Y417H exm689755 8 23294645 [A/C] NM_001128930,NM_004901 ENTPD4,ENTPD4 EXON Missense_F384L,Missense_F392L exm689756 8 23294656 [T/C] NM_001128930,NM_004901 ENTPD4,ENTPD4 EXON Missense_T381A,Missense_T389A exm689757 8 23294661 [T/C] NM_001128930,NM_004901 ENTPD4,ENTPD4 EXON Missense_R379Q,Missense_R387Q exm689762 8 23294761 [T/C] NM_001128930,NM_004901 ENTPD4,ENTPD4 EXON Missense_K346E,Missense_K354E exm689766 8 23297349 [T/C] NM_001128930,NM_004901 ENTPD4,ENTPD4 EXON Missense_Y313C,Missense_Y321C exm689772 8 23299153 [T/C] NM_001128930,NM_004901 ENTPD4,ENTPD4 EXON Missense_D271N,Missense_D271N exm689775 8 23299225 [T/C] NM_001128930,NM_004901 ENTPD4,ENTPD4 EXON Missense_V247I,Missense_V247I exm689777 8 23299227 [C/G] NM_001128930,NM_004901 ENTPD4,ENTPD4 EXON Missense_A246G,Missense_A246G exm689784 8 23301426 [A/G] NM_001128930,NM_004901 ENTPD4,ENTPD4 EXON Missense_P202S,Missense_P202S exm689789 8 23302080 [T/G] NM_001128930,NM_004901 ENTPD4,ENTPD4 EXON Missense_D151A,Missense_D151A exm689809 8 23306403 [A/G] NM_001128930,NM_004901 ENTPD4,ENTPD4 EXON Missense_P20S,Missense_P20S exm2169857 8 23306454 [T/A] NM_001128930,NM_004901 ENTPD4,ENTPD4 Silent,Silent exm2266719 8 23396732 [A/G] NM_016612 SLC25A37 Silent exm2264284 8 23418444 [A/C] NM_016612 SLC25A37 Silent exm689825 8 23423697 [A/G] NM_016612 SLC25A37 EXON Missense_R96Q exm-rs1512268 8 23526463 [T/C] exm689911 8 23708887 [T/C] NM_003155 STC1 EXON Missense_R140Q exm-rs10109414 8 23751151 [T/C] exm2270832 8 23786333 [T/C] exm2266720 8 24003241 [A/G] exm-rs1013209 8 24116304 [T/C] exm689932 8 24157569 [T/G] NM_021777,NM_014265 ADAM28,ADAM28 EXON Missense_E43D,Missense_E43D exm689933 8 24157589 [A/G] NM_021777,NM_014265 ADAM28,ADAM28 EXON Missense_Q50R,Missense_Q50R exm689935 8 24167458 [A/G] NM_021777,NM_014265 ADAM28,ADAM28 EXON Missense_A68T,Missense_A68T exm689944 8 24168885 [T/G] NM_021777,NM_014265 ADAM28,ADAM28 EXON Nonsense_Y106X,Nonsense_Y106X exm689951 8 24170956 [A/C] NM_021777,NM_014265 ADAM28,ADAM28 EXON Missense_H147N,Missense_H147N exm689952 8 24170960 [T/G] NM_021777,NM_014265 ADAM28,ADAM28 EXON Missense_R148L,Missense_R148L exm2169921 8 24170983 [T/C] NM_021777,NM_014265 ADAM28,ADAM28 EXON Missense_F156L,Missense_F156L exm689954 8 24170994 [A/C] NM_021777,NM_014265 ADAM28,ADAM28 EXON Missense_N159K,Missense_N159K exm689960 8 24171056 [T/G] NM_021777,NM_014265 ADAM28,ADAM28 EXON Missense_L180W,Missense_L180W exm689970 8 24178738 [T/G] NM_021777,NM_014265 ADAM28,ADAM28 EXON Missense_R219M,Missense_R219M exm689971 8 24178739 [T/G] NM_021777,NM_014265 ADAM28,ADAM28 EXON Missense_R219S,Missense_R219S exm689978 8 24181491 [T/C] NM_021777,NM_014265 ADAM28,ADAM28 EXON Missense_R289C,Missense_R289C exm2169929 8 24181516 [T/C] NM_021777,NM_014265 ADAM28,ADAM28 EXON Missense_T297I,Missense_T297I exm689979 8 24181517 [A/G] NM_021777,NM_014265 ADAM28,ADAM28 Silent,Silent exm689989 8 24187535 [T/C] NM_021777,NM_014265 ADAM28,ADAM28 EXON Missense_M337T,Missense_M337T exm689993 8 24187580 [A/C] NM_021777,NM_014265 ADAM28,ADAM28 EXON Missense_Y352S,Missense_Y352S exm689994 8 24187586 [A/G] NM_021777,NM_014265 ADAM28,ADAM28 EXON Missense_C354Y,Missense_C354Y exm689999 8 24188685 [A/G] NM_021777,NM_014265 ADAM28,ADAM28 EXON Missense_S376G,Missense_S376G exm2169943 8 24192972 [G/C] NM_021777,NM_014265 ADAM28,ADAM28 EXON Missense_G462A,Missense_G462A exm690009 8 24193065 [A/G] NM_021777,NM_014265 ADAM28,ADAM28 EXON Missense_N493S,Missense_N493S exm690011 8 24193085 [A/G] NM_021777,NM_014265 ADAM28,ADAM28 EXON Missense_G500R,Missense_G500R exm690014 8 24193188 [T/C] NM_021777,NM_014265 ADAM28,ADAM28 EXON Missense_A534V,Silent exm2169948 8 24197017 [A/G] NM_014265 ADAM28 EXON Missense_E536K exm690020 8 24197035 [T/G] NM_014265 ADAM28 EXON Missense_G542W exm690029 8 24199172 [T/C] NM_014265 ADAM28 EXON Missense_R578W exm690032 8 24199218 [A/C] NM_014265 ADAM28 EXON Missense_T593K exm690038 8 24200656 [A/C] NM_014265 ADAM28 EXON Missense_K625Q exm690045 8 24201097 [T/C] NM_014265 ADAM28 EXON Missense_H664Y exm690047 8 24207409 [A/G] NM_014265 ADAM28 EXON Missense_M675V exm690049 8 24207438 [A/G] NM_014265 ADAM28 EXON Missense_M684I exm690052 8 24207470 [A/G] NM_014265 ADAM28 EXON Missense_Q695R exm690053 8 24207472 [A/C] NM_014265 ADAM28 EXON Missense_K696Q exm690055 8 24208750 [T/C] NM_014265 ADAM28 EXON Missense_L702P exm690066 8 24211331 [A/G] NM_014265 ADAM28 EXON Missense_V765M exm690079 8 24211915 [T/G] NM_014265 ADAM28 EXON Missense_X776G exm690091 8 24249805 [T/C] NM_001145272,NM_001145271,NM_014479 ADAMDEC1,ADAMDEC1,ADAMDEC1 EXON Silent,Silent,Missense_T40M exm690094 8 24249817 [T/G] NM_001145272,NM_001145271,NM_014479 ADAMDEC1,ADAMDEC1,ADAMDEC1 EXON Silent,Silent,Missense_I44R exm690097 8 24250809 [T/C] NM_001145272,NM_001145271,NM_014479 ADAMDEC1,ADAMDEC1,ADAMDEC1 EXON Missense_I2T,Missense_I2T,Missense_I81T exm690098 8 24250832 [C/G] NM_001145272,NM_001145271,NM_014479 ADAMDEC1,ADAMDEC1,ADAMDEC1 EXON Missense_L10V,Missense_L10V,Missense_L89V exm2169973 8 24251599 [A/C] NM_001145272,NM_001145271,NM_014479 ADAMDEC1,ADAMDEC1,ADAMDEC1 EXON Missense_D22A,Missense_D22A,Missense_D101A exm690103 8 24251644 [T/C] NM_001145272,NM_001145271,NM_014479 ADAMDEC1,ADAMDEC1,ADAMDEC1 EXON Missense_T37M,Missense_T37M,Missense_T116M exm690104 8 24251659 [T/C] NM_001145272,NM_001145271,NM_014479 ADAMDEC1,ADAMDEC1,ADAMDEC1 EXON Missense_M42T,Missense_M42T,Missense_M121T exm690105 8 24253290 [A/G] NM_001145272,NM_001145271,NM_014479 ADAMDEC1,ADAMDEC1,ADAMDEC1 EXON Missense_S62G,Missense_S62G,Missense_S141G exm690119 8 24256007 [A/T] NM_001145272,NM_001145271,NM_014479 ADAMDEC1,ADAMDEC1,ADAMDEC1 EXON Missense_N156K,Missense_N156K,Missense_N235K exm690152 8 24259546 [T/C] NM_001145272,NM_001145271,NM_014479 ADAMDEC1,ADAMDEC1,ADAMDEC1 EXON Missense_P342S,Missense_P342S,Missense_P421S exm690155 8 24259600 [T/C] NM_001145272,NM_001145271,NM_014479 ADAMDEC1,ADAMDEC1,ADAMDEC1 EXON Missense_P360S,Missense_P360S,Missense_P439S exm690158 8 24261547 [T/C] NM_001145272,NM_001145271,NM_014479 ADAMDEC1,ADAMDEC1,ADAMDEC1 EXON Missense_T372M,Missense_T372M,Missense_T451M exm690160 8 24261576 [A/G] NM_001145272,NM_001145271,NM_014479 ADAMDEC1,ADAMDEC1,ADAMDEC1 EXON Missense_G382R,Missense_G382R,Missense_G461R exm690161 8 24261579 [A/G] NM_001145272,NM_001145271,NM_014479 ADAMDEC1,ADAMDEC1,ADAMDEC1 EXON Missense_G383R,Missense_G383R,Missense_G462R exm690164 8 24261602 [A/G] NM_001145272,NM_001145271,NM_014479 ADAMDEC1,ADAMDEC1,ADAMDEC1 Silent,Silent,Silent exm690182 8 24300006 [C/G] NM_003817 ADAM7 EXON Missense_E25Q exm690189 8 24304703 [T/C] NM_003817 ADAM7 EXON Missense_T54M exm690196 8 24304754 [T/C] NM_003817 ADAM7 EXON Missense_V71A exm690199 8 24321397 [T/A] NM_003817 ADAM7 EXON Missense_E79V exm690202 8 24323219 [A/G] NM_003817 ADAM7 EXON Missense_C107Y exm690207 8 24323251 [A/G] NM_003817 ADAM7 EXON Missense_D118N exm690214 8 24324319 [T/C] NM_003817 ADAM7 EXON Missense_F133L exm690224 8 24326313 [A/G] NM_003817 ADAM7 EXON Missense_I205V exm690227 8 24333949 [T/C] NM_003817 ADAM7 EXON Missense_R213C exm690229 8 24333991 [T/C] NM_003817 ADAM7 EXON Missense_W227R exm690232 8 24339679 [A/G] NM_003817 ADAM7 EXON Missense_V244M exm690245 8 24342812 [A/G] NM_003817 ADAM7 EXON Missense_V300M exm690251 8 24344811 [A/G] NM_003817 ADAM7 EXON Missense_V358M exm690254 8 24346743 [T/C] NM_003817 ADAM7 EXON Missense_T388I exm690256 8 24346823 [A/G] NM_003817 ADAM7 EXON Missense_E415K exm690268 8 24349417 [T/C] NM_003817 ADAM7 EXON Missense_I453T exm690276 8 24349562 [A/G] NM_003817 ADAM7 EXON Missense_M501I exm690278 8 24350065 [T/G] NM_003817 ADAM7 EXON Missense_G537V exm690279 8 24350087 [C/G] NM_003817 ADAM7 EXON Missense_N544K exm690283 8 24350567 [A/G] NM_003817 ADAM7 EXON Missense_C556Y exm690293 8 24356756 [A/G] NM_003817 ADAM7 EXON Missense_N617S exm690297 8 24356818 [A/C] NM_003817 ADAM7 EXON Missense_N638H exm690298 8 24357716 [T/A] NM_003817 ADAM7 EXON Missense_H650L exm690299 8 24357723 [T/G] NM_003817 ADAM7 EXON Missense_E652D exm2246790 8 24358350 [A/G] NM_003817 ADAM7 EXON Missense_G684R exm690309 8 24358384 [A/G] NM_003817 ADAM7 EXON Missense_C695Y exm690312 8 24359025 [T/G] NM_003817 ADAM7 EXON Missense_G715V exm690313 8 24359045 [G/C] NM_003817 ADAM7 EXON Missense_Q722E exm690319 8 24364997 [T/C] NM_003817 ADAM7 EXON Missense_P738L exm690320 8 24365003 [A/G] NM_003817 ADAM7 EXON Missense_S740N exm2266721 8 24691440 [A/G] exm2170073 8 24771275 [T/C] NM_005382 NEFM EXON Silent exm2170074 8 24771326 [C/G] NM_005382 NEFM EXON Missense_S7W exm690340 8 24771693 [T/G] NM_005382 NEFM EXON Missense_I129M exm690342 8 24771809 [A/G] NM_005382 NEFM EXON Missense_K168R exm690344 8 24771884 [A/C] NM_005382 NEFM EXON Missense_A193E exm690353 8 24772143 [A/C] NM_005382 NEFM EXON Missense_S279R exm2274303 8 24772189 [A/C] NM_005382 NEFM EXON Missense_R295S exm690357 8 24772221 [G/C] NM_005382 NEFM EXON Missense_Q305H exm690364 8 24773178 [T/C] NM_005382,NM_001105541 NEFM,NEFM EXON Synonymous_L381L,Synonymous_L5L exm2258792 8 24773178 [T/C] NM_005382,NM_001105541 NEFM,NEFM EXON Synonymous_L381L,Synonymous_L5L exm690365 8 24773185 [A/G] NM_005382,NM_001105541 NEFM,NEFM EXON Missense_E383G,Missense_E7G exm690369 8 24774683 [A/C] NM_005382,NM_001105541 NEFM,NEFM EXON Missense_P439T,Missense_P63T exm690373 8 24774791 [A/G] NM_005382,NM_001105541 NEFM,NEFM EXON Missense_A475T,Missense_A99T exm690376 8 24774812 [A/G] NM_005382,NM_001105541 NEFM,NEFM EXON Missense_V482I,Missense_V106I exm690380 8 24774869 [C/G] NM_005382,NM_001105541 NEFM,NEFM EXON Missense_A501P,Missense_A125P exm690391 8 24775155 [A/C] NM_005382,NM_001105541 NEFM,NEFM EXON Missense_A596D,Missense_A220D exm2246796 8 24775337 [T/C] NM_005382,NM_001105541 NEFM,NEFM EXON Missense_P657S,Missense_P281S exm2246797 8 24775361 [T/G] NM_005382,NM_001105541 NEFM,NEFM EXON Missense_G665C,Missense_G289C exm690410 8 24775457 [C/G] NM_005382,NM_001105541 NEFM,NEFM EXON Missense_G697R,Missense_G321R exm690411 8 24775477 [T/G] NM_005382,NM_001105541 NEFM,NEFM EXON Missense_E703D,Missense_E327D exm690412 8 24775515 [A/G] NM_005382,NM_001105541 NEFM,NEFM EXON Missense_E716G,Missense_E340G exm690414 8 24775542 [A/C] NM_005382,NM_001105541 NEFM,NEFM EXON Missense_P725Q,Missense_P349Q exm690431 8 24775938 [T/C] NM_005382,NM_001105541 NEFM,NEFM EXON Missense_T857M,Missense_T481M exm690432 8 24775940 [A/G] NM_005382,NM_001105541 NEFM,NEFM EXON Missense_V858I,Missense_V482I exm690436 8 24775965 [A/G] NM_005382,NM_001105541 NEFM,NEFM EXON Missense_G866E,Missense_G490E exm690442 8 24776071 [A/C] NM_005382,NM_001105541 NEFM,NEFM EXON Missense_E901D,Missense_E525D exm2258793 8 24811204 [A/G] NM_006158 NEFL EXON Synonymous_G425G exm2170112 8 24811765 [A/G] NM_006158 NEFL EXON Nonsense_R367X exm690478 8 24813391 [G/C] NM_006158 NEFL EXON Missense_I213M exm690479 8 24813446 [A/G] NM_006158 NEFL EXON Missense_A195V exm690505 8 25101205 [A/T] NM_024940 DOCK5 EXON Missense_N20I exm690508 8 25126362 [T/C] NM_024940 DOCK5 EXON Synonymous_G43G exm2258794 8 25149590 [A/G] NM_024940 DOCK5 EXON Synonymous_L124L exm690535 8 25156491 [A/G] NM_024940 DOCK5 EXON Missense_Q213R exm2258795 8 25156495 [T/C] NM_024940 DOCK5 EXON Synonymous_S214S exm690537 8 25156495 [T/C] NM_024940 DOCK5 EXON Synonymous_S214S exm690538 8 25156496 [A/G] NM_024940 DOCK5 EXON Missense_I215V exm690547 8 25156602 [A/G] NM_024940 DOCK5 EXON Missense_Q250R exm690576 8 25174610 [T/C] NM_024940 DOCK5 EXON Missense_T469M exm690577 8 25174616 [C/G] NM_024940 DOCK5 EXON Missense_S471C exm2276008 8 25178523 [C/G] NM_024940 DOCK5 EXON Missense_R524G exm690584 8 25178524 [A/G] NM_024940 DOCK5 EXON Missense_R524H exm690595 8 25181435 [A/C] NM_024940 DOCK5 EXON Missense_Q563K exm2246803 8 25191630 [A/G] NM_024940 DOCK5 EXON Missense_I704V exm2170161 8 25193801 [T/C] NM_024940 DOCK5 EXON Missense_S747P exm690615 8 25199988 [T/C] NM_024940 DOCK5 EXON Missense_T861I exm690621 8 25203071 [A/G] NM_024940 DOCK5 EXON Missense_E900K exm690630 8 25216495 [T/G] NM_024940 DOCK5 EXON Missense_C956F exm690640 8 25220569 [T/C] NM_024940 DOCK5 EXON Missense_L986F exm690641 8 25220572 [T/A] NM_024940 DOCK5 EXON Missense_M987L exm690642 8 25220642 [A/G] NM_024940 DOCK5 EXON Missense_N1010S exm690644 8 25222153 [A/G] NM_024940 DOCK5 EXON Missense_R1019H exm690645 8 25222158 [A/G] NM_024940 DOCK5 EXON Missense_I1021V exm690646 8 25222165 [A/G] NM_024940 DOCK5 EXON Missense_Q1023R exm2246807 8 25224450 [T/C] NM_024940 DOCK5 EXON Missense_T1063I exm690676 8 25234858 [A/G] NM_024940 DOCK5 EXON Missense_K1285R exm2258796 8 25242601 [A/C] NM_024940 DOCK5 Silent exm2258797 8 25246681 [T/C] NM_024940 DOCK5 EXON Synonymous_F1402F exm690697 8 25246686 [A/G] NM_024940 DOCK5 EXON Missense_N1404S exm690703 8 25247775 [A/G] NM_024940 DOCK5 EXON Missense_D1443N exm690705 8 25249462 [A/G] NM_024940 DOCK5 EXON Missense_R1469Q exm690708 8 25250340 [T/C] NM_024940 DOCK5 EXON Missense_T1490M exm2258798 8 25253202 [A/G] NM_024940 DOCK5 EXON Synonymous_P1557P exm690718 8 25253202 [A/G] NM_024940 DOCK5 EXON Synonymous_P1557P exm690721 8 25257451 [G/C] NM_024940 DOCK5 EXON Missense_Q1577E exm690736 8 25261074 [A/C] NM_024940 DOCK5 EXON Missense_P1643T exm690738 8 25261108 [T/C] NM_024940 DOCK5 EXON Missense_T1654M exm690749 8 25265581 [A/G] NM_024940 DOCK5 EXON Missense_E1726K exm690751 8 25265651 [A/C] NM_024940 DOCK5 EXON Missense_A1749E exm690763 8 25267684 [A/G] NM_024940 DOCK5 EXON Missense_K1825R exm690768 8 25268732 [A/G] NM_024940 DOCK5 EXON Missense_R1844Q exm690777 8 25276976 [C/G] NM_000825,NM_001083111 GNRH1,GNRH1 EXON Missense_E84Q,Missense_E80Q exm690785 8 25279183 [A/C] NM_000825,NM_001083111 GNRH1,GNRH1 EXON Missense_I52R,Missense_I48R exm690789 8 25280800 [G/C] NM_000825,NM_001083111 GNRH1,GNRH1 EXON Missense_W20S,Missense_W16S exm690821 8 25296900 [C/G] NM_017634 KCTD9 EXON Missense_H132D exm690840 8 25317913 [G/C] NM_152562 CDCA2 EXON Missense_F25L exm690842 8 25317966 [T/C] NM_152562 CDCA2 EXON Missense_P43L exm690844 8 25317987 [T/C] NM_152562 CDCA2 EXON Missense_T50I exm690845 8 25318003 [C/G] NM_152562 CDCA2 EXON Missense_L55F exm2170288 8 25318022 [A/G] NM_152562 CDCA2 EXON Missense_V62I exm690858 8 25319653 [T/C] NM_152562 CDCA2 EXON Missense_R106C exm690859 8 25319665 [T/C] NM_152562 CDCA2 EXON Missense_R110W exm690861 8 25319678 [T/C] NM_152562 CDCA2 EXON Missense_I114T exm690870 8 25323772 [A/G] NM_152562 CDCA2 EXON Missense_E157K exm2170291 8 25323790 [A/G] NM_152562 CDCA2 EXON Missense_G163S exm690877 8 25325744 [T/G] NM_152562 CDCA2 EXON Missense_G184C exm2246812 8 25325757 [T/G] NM_152562 CDCA2 EXON Missense_C188F exm690880 8 25327421 [A/G] NM_152562 CDCA2 EXON Missense_K249E exm690885 8 25337458 [A/G] NM_152562 CDCA2 EXON Missense_K284E exm690892 8 25337562 [T/C] NM_152562 CDCA2 EXON Synonymous_D318D exm690898 8 25340955 [T/C] NM_152562 CDCA2 EXON Missense_P358L exm690919 8 25343296 [A/G] NM_152562 CDCA2 EXON Missense_V463I exm690923 8 25344785 [A/G] NM_152562 CDCA2 EXON Missense_N490D exm2246814 8 25344826 [A/G] NM_152562 CDCA2 EXON Missense_I503M exm690926 8 25346073 [C/G] NM_152562 CDCA2 EXON Missense_L513F exm690929 8 25346108 [T/G] NM_152562 CDCA2 EXON Missense_L525W exm690931 8 25346119 [A/G] NM_152562 CDCA2 EXON Missense_V529I exm690938 8 25360923 [T/G] NM_152562 CDCA2 EXON Missense_G569V exm690942 8 25361021 [A/G] NM_152562 CDCA2 EXON Missense_M602V exm2170318 8 25361033 [A/G] NM_152562 CDCA2 EXON Missense_I606V exm690947 8 25364101 [G/C] NM_152562 CDCA2 EXON Missense_R640P exm690954 8 25364319 [A/T] NM_152562 CDCA2 EXON Missense_S713T exm690955 8 25364331 [A/G] NM_152562 CDCA2 EXON Missense_V717I exm690957 8 25364343 [T/C] NM_152562 CDCA2 EXON Missense_R721C exm690961 8 25364443 [A/C] NM_152562 CDCA2 EXON Missense_K754T exm690966 8 25364524 [A/G] NM_152562 CDCA2 EXON Missense_R781H exm690967 8 25364532 [A/C] NM_152562 CDCA2 EXON Missense_P784T exm690968 8 25364611 [A/G] NM_152562 CDCA2 EXON Missense_D810G exm690973 8 25364811 [A/G] NM_152562 CDCA2 EXON Missense_I877V exm690978 8 25364889 [A/G] NM_152562 CDCA2 EXON Missense_E903K exm690989 8 25365042 [A/G] NM_152562 CDCA2 EXON Missense_V954I exm691008 8 25708131 [T/C] NM_022659 EBF2 EXON Missense_G559S exm2262462 8 25735330 [T/C] NM_022659 EBF2 Silent exm691142 8 26265804 [A/G] NM_004331 BNIP3L EXON Missense_M175V exm2258803 8 26365201 [A/G] NM_007257 PNMA2 EXON Synonymous_R357R exm691163 8 26365294 [A/C] NM_007257 PNMA2 EXON Missense_E326D exm691166 8 26365425 [A/G] NM_007257 PNMA2 EXON Missense_R283C exm691177 8 26365693 [T/G] NM_007257 PNMA2 EXON Missense_K193N exm691179 8 26365716 [T/C] NM_007257 PNMA2 EXON Missense_E186K exm691185 8 26365806 [A/G] NM_007257 PNMA2 EXON Missense_P156S exm691201 8 26366084 [T/C] NM_007257 PNMA2 EXON Missense_N63S exm691204 8 26366103 [A/G] NM_007257 PNMA2 EXON Missense_R57W exm691208 8 26366151 [T/C] NM_007257 PNMA2 EXON Missense_E41K exm691211 8 26366267 [A/G] NM_007257 PNMA2 EXON Missense_A2V exm2266722 8 26438546 [A/G] NM_001197293,NM_001386,NM_001244604 DPYSL2,DPYSL2,DPYSL2 Silent,Silent,Silent exm691251 8 26481697 [A/G] NM_001197293,NM_001386,NM_001244604 DPYSL2,DPYSL2,DPYSL2 EXON Missense_A223T,Missense_A118T,Missense_A82T exm691255 8 26481822 [T/C] NM_001197293,NM_001386,NM_001244604 DPYSL2,DPYSL2,DPYSL2 EXON Synonymous_H264H,Synonymous_H159H,Synonymous_H123H exm691258 8 26484184 [T/C] NM_001197293,NM_001386,NM_001244604 DPYSL2,DPYSL2,DPYSL2 EXON Missense_T282M,Missense_T177M,Missense_T141M exm691279 8 26492404 [T/G] NM_001197293,NM_001386,NM_001244604 DPYSL2,DPYSL2,DPYSL2 EXON Missense_A372S,Missense_A267S,Missense_A231S exm691281 8 26500998 [C/G] NM_001197293,NM_001386,NM_001244604 DPYSL2,DPYSL2,DPYSL2 EXON Synonymous_T390T,Synonymous_T285T,Synonymous_T249T exm2258804 8 26500998 [C/G] NM_001197293,NM_001386,NM_001244604 DPYSL2,DPYSL2,DPYSL2 EXON Synonymous_T390T,Synonymous_T285T,Synonymous_T249T exm691283 8 26501008 [A/C] NM_001197293,NM_001386,NM_001244604 DPYSL2,DPYSL2,DPYSL2 EXON Missense_H394N,Missense_H289N,Missense_H253N exm2258805 8 26510792 [T/C] NM_001197293,NM_001386,NM_001244604 DPYSL2,DPYSL2,DPYSL2 EXON Synonymous_P607P,Synonymous_P502P,Synonymous_P466P exm-rs7842128 8 26518780 [A/G] exm2258807 8 26574403 [T/G] exm2270834 8 26592410 [T/C] exm691329 8 26623647 [A/T] NM_033303,NM_033302,NM_033304 ADRA1A,ADRA1A,ADRA1A EXON Silent,Silent,Missense_Y430F exm691332 8 26627672 [T/A] NM_033303,NM_033302,NM_033304,NM_000680 ADRA1A,ADRA1A,ADRA1A,ADRA1A EXON Silent,Silent,Silent,Missense_E465D exm691344 8 26627895 [A/G] NM_033303,NM_033302,NM_033304,NM_000680 ADRA1A,ADRA1A,ADRA1A,ADRA1A EXON Missense_T391M,Missense_T391M,Missense_T391M,Missense_T391M exm691346 8 26627940 [T/C] NM_033303,NM_033302,NM_033304,NM_000680 ADRA1A,ADRA1A,ADRA1A,ADRA1A EXON Missense_R376H,Missense_R376H,Missense_R376H,Missense_R376H exm691347 8 26627944 [A/C] NM_033303,NM_033302,NM_033304,NM_000680 ADRA1A,ADRA1A,ADRA1A,ADRA1A EXON Missense_V375L,Missense_V375L,Missense_V375L,Missense_V375L exm691356 8 26628028 [A/G] NM_033303,NM_033302,NM_033304,NM_000680 ADRA1A,ADRA1A,ADRA1A,ADRA1A EXON Missense_C347R,Missense_C347R,Missense_C347R,Missense_C347R exm691365 8 26721603 [C/G] NM_033303,NM_033302,NM_033304,NM_000680 ADRA1A,ADRA1A,ADRA1A,ADRA1A Silent,Silent,Silent,Silent exm691367 8 26721610 [A/G] NM_033303,NM_033302,NM_033304,NM_000680 ADRA1A,ADRA1A,ADRA1A,ADRA1A EXON Missense_P293S,Missense_P293S,Missense_P293S,Missense_P293S exm691373 8 26721748 [T/C] NM_033303,NM_033302,NM_033304,NM_000680 ADRA1A,ADRA1A,ADRA1A,ADRA1A EXON Missense_G247R,Missense_G247R,Missense_G247R,Missense_G247R exm691374 8 26721750 [T/C] NM_033303,NM_033302,NM_033304,NM_000680 ADRA1A,ADRA1A,ADRA1A,ADRA1A EXON Missense_S246N,Missense_S246N,Missense_S246N,Missense_S246N exm691378 8 26721808 [A/G] NM_033303,NM_033302,NM_033304,NM_000680 ADRA1A,ADRA1A,ADRA1A,ADRA1A EXON Missense_S227P,Missense_S227P,Missense_S227P,Missense_S227P exm2170450 8 26721841 [G/C] NM_033303,NM_033302,NM_033304,NM_000680 ADRA1A,ADRA1A,ADRA1A,ADRA1A EXON Missense_R216G,Missense_R216G,Missense_R216G,Missense_R216G exm691382 8 26721888 [A/C] NM_033303,NM_033302,NM_033304,NM_000680 ADRA1A,ADRA1A,ADRA1A,ADRA1A EXON Missense_I200S,Missense_I200S,Missense_I200S,Missense_I200S exm691387 8 26721990 [T/C] NM_033303,NM_033302,NM_033304,NM_000680 ADRA1A,ADRA1A,ADRA1A,ADRA1A EXON Missense_R166K,Missense_R166K,Missense_R166K,Missense_R166K exm691390 8 26722027 [A/C] NM_033303,NM_033302,NM_033304,NM_000680 ADRA1A,ADRA1A,ADRA1A,ADRA1A EXON Missense_S154A,Missense_S154A,Missense_S154A,Missense_S154A exm691394 8 26722110 [T/A] NM_033303,NM_033302,NM_033304,NM_000680 ADRA1A,ADRA1A,ADRA1A,ADRA1A EXON Missense_I126N,Missense_I126N,Missense_I126N,Missense_I126N exm2270835 8 26723049 [T/C] exm691420 8 27098667 [A/C] NM_030795 STMN4 EXON Missense_D101E exm691453 8 27145183 [A/G] NM_171982 TRIM35 EXON Missense_R456C exm691454 8 27145195 [T/C] NM_171982 TRIM35 EXON Missense_T452A exm691458 8 27145261 [A/C] NM_171982 TRIM35 EXON Missense_V430L exm691464 8 27145336 [T/C] NM_171982 TRIM35 EXON Missense_V405M exm691483 8 27145618 [T/C] NM_171982 TRIM35 EXON Missense_A311T exm2170478 8 27145622 [T/G] NM_171982 TRIM35 EXON Missense_N309K exm691502 8 27151611 [T/C] NM_171982 TRIM35 EXON Missense_V250I exm691504 8 27151632 [A/T] NM_171982 TRIM35 EXON Missense_M243L exm691511 8 27151698 [T/C] NM_171982 TRIM35 EXON Missense_D221N exm691524 8 27156013 [A/G] NM_171982 TRIM35 EXON Missense_R167C exm691529 8 27168332 [T/C] NM_171982 TRIM35 EXON Missense_A141T exm691531 8 27168348 [G/C] NM_171982 TRIM35 EXON Missense_Q135H exm691538 8 27168512 [T/G] NM_171982 TRIM35 EXON Missense_K81Q exm691554 8 27255130 [A/G] NM_173174,NM_004103,NM_173176,NM_173175 PTK2B,PTK2B,PTK2B,PTK2B EXON Missense_R10Q,Missense_R10Q,Missense_R10Q,Missense_R10Q exm691558 8 27255154 [A/G] NM_173174,NM_004103,NM_173176,NM_173175 PTK2B,PTK2B,PTK2B,PTK2B EXON Missense_R18Q,Missense_R18Q,Missense_R18Q,Missense_R18Q exm691562 8 27255213 [A/G] NM_173174,NM_004103,NM_173176,NM_173175 PTK2B,PTK2B,PTK2B,PTK2B EXON Missense_V38M,Missense_V38M,Missense_V38M,Missense_V38M exm691569 8 27255302 [C/G] NM_173174,NM_004103,NM_173176,NM_173175 PTK2B,PTK2B,PTK2B,PTK2B EXON Missense_I67M,Missense_I67M,Missense_I67M,Missense_I67M exm691571 8 27255304 [A/G] NM_173174,NM_004103,NM_173176,NM_173175 PTK2B,PTK2B,PTK2B,PTK2B EXON Missense_R68Q,Missense_R68Q,Missense_R68Q,Missense_R68Q exm691577 8 27277505 [A/G] NM_173174,NM_004103,NM_173176,NM_173175 PTK2B,PTK2B,PTK2B,PTK2B EXON Missense_D100N,Missense_D100N,Missense_D100N,Missense_D100N exm2274304 8 27277553 [T/G] NM_173174,NM_004103,NM_173176,NM_173175 PTK2B,PTK2B,PTK2B,PTK2B EXON Missense_D116Y,Missense_D116Y,Missense_D116Y,Missense_D116Y exm691598 8 27288495 [A/G] NM_173174,NM_004103,NM_173176,NM_173175 PTK2B,PTK2B,PTK2B,PTK2B EXON Missense_A258T,Missense_A258T,Missense_A258T,Missense_A258T exm2170506 8 27288501 [A/G] NM_173174,NM_004103,NM_173176,NM_173175 PTK2B,PTK2B,PTK2B,PTK2B EXON Missense_I260V,Missense_I260V,Missense_I260V,Missense_I260V exm691599 8 27288514 [A/C] NM_173174,NM_004103,NM_173176,NM_173175 PTK2B,PTK2B,PTK2B,PTK2B EXON Missense_T264N,Missense_T264N,Missense_T264N,Missense_T264N exm691609 8 27289792 [A/G] NM_173174,NM_004103,NM_173176,NM_173175 PTK2B,PTK2B,PTK2B,PTK2B EXON Missense_E301K,Missense_E301K,Missense_E301K,Missense_E301K exm691617 8 27291039 [G/C] NM_173174,NM_004103,NM_173176,NM_173175 PTK2B,PTK2B,PTK2B,PTK2B EXON Missense_Q359E,Missense_Q359E,Missense_Q359E,Missense_Q359E exm691623 8 27292047 [A/G] NM_173174,NM_004103,NM_173176,NM_173175 PTK2B,PTK2B,PTK2B,PTK2B EXON Missense_R388Q,Missense_R388Q,Missense_R388Q,Missense_R388Q exm691630 8 27293308 [T/G] NM_173174,NM_004103,NM_173176,NM_173175 PTK2B,PTK2B,PTK2B,PTK2B EXON Missense_G414V,Missense_G414V,Missense_G414V,Missense_G414V exm691634 8 27293794 [T/G] NM_173174,NM_004103,NM_173176,NM_173175 PTK2B,PTK2B,PTK2B,PTK2B EXON Missense_D424Y,Missense_D424Y,Missense_D424Y,Missense_D424Y exm691637 8 27293810 [A/G] NM_173174,NM_004103,NM_173176,NM_173175 PTK2B,PTK2B,PTK2B,PTK2B EXON Missense_R429H,Missense_R429H,Missense_R429H,Missense_R429H exm691638 8 27293865 [T/C] NM_173174,NM_004103,NM_173176,NM_173175 PTK2B,PTK2B,PTK2B,PTK2B EXON Synonymous_H447H,Synonymous_H447H,Synonymous_H447H,Synonymous_H447H exm691647 8 27295333 [A/G] NM_173174,NM_004103,NM_173176,NM_173175 PTK2B,PTK2B,PTK2B,PTK2B EXON Missense_V527M,Missense_V527M,Missense_V527M,Missense_V527M exm691651 8 27295390 [A/G] NM_173174,NM_004103,NM_173176,NM_173175 PTK2B,PTK2B,PTK2B,PTK2B EXON Missense_V546M,Missense_V546M,Missense_V546M,Missense_V546M exm691655 8 27296826 [T/C] NM_173174,NM_004103,NM_173176,NM_173175 PTK2B,PTK2B,PTK2B,PTK2B EXON Missense_A582V,Missense_A582V,Missense_A582V,Missense_A582V exm691656 8 27296832 [T/C] NM_173174,NM_004103,NM_173176,NM_173175 PTK2B,PTK2B,PTK2B,PTK2B EXON Missense_V584A,Missense_V584A,Missense_V584A,Missense_V584A exm691669 8 27300399 [T/C] NM_173174,NM_004103,NM_173176,NM_173175 PTK2B,PTK2B,PTK2B,PTK2B EXON Missense_Y683H,Missense_Y683H,Missense_Y683H,Missense_Y683H exm691677 8 27303321 [T/G] NM_173174,NM_004103,NM_173176,NM_173175 PTK2B,PTK2B,PTK2B,PTK2B EXON Missense_G742V,Missense_G742V,Missense_G742V,Silent exm691681 8 27303374 [A/G] NM_173174,NM_004103,NM_173176,NM_173175 PTK2B,PTK2B,PTK2B,PTK2B EXON Missense_V760I,Missense_V760I,Missense_V760I,Silent exm691685 8 27303435 [A/G] NM_173174,NM_004103,NM_173176,NM_173175 PTK2B,PTK2B,PTK2B,PTK2B EXON Missense_R780Q,Missense_R780Q,Missense_R780Q,Silent exm691692 8 27308585 [A/C] NM_173174,NM_004103,NM_173176,NM_173175 PTK2B,PTK2B,PTK2B,PTK2B EXON Missense_K838T,Missense_K838T,Missense_K838T,Missense_K796T exm691699 8 27309026 [T/C] NM_173174,NM_004103,NM_173176,NM_173175 PTK2B,PTK2B,PTK2B,PTK2B EXON Synonymous_L850L,Synonymous_L850L,Synonymous_L850L,Synonymous_L808L exm691708 8 27310673 [T/C] NM_173174,NM_004103,NM_173176,NM_173175 PTK2B,PTK2B,PTK2B,PTK2B EXON Missense_A864V,Missense_A864V,Missense_A864V,Missense_A822V exm2258810 8 27311703 [T/C] NM_173174,NM_004103,NM_173176,NM_173175 PTK2B,PTK2B,PTK2B,PTK2B EXON Synonymous_T876T,Synonymous_T876T,Synonymous_T876T,Synonymous_T834T exm691715 8 27311723 [A/G] NM_173174,NM_004103,NM_173176,NM_173175 PTK2B,PTK2B,PTK2B,PTK2B EXON Missense_N883S,Missense_N883S,Missense_N883S,Missense_N841S exm691745 8 27315929 [T/C] NM_173174,NM_004103,NM_173176,NM_173175 PTK2B,PTK2B,PTK2B,PTK2B EXON Missense_T978M,Missense_T978M,Missense_T978M,Missense_T936M exm691746 8 27315936 [A/G] NM_173174,NM_004103,NM_173176,NM_173175 PTK2B,PTK2B,PTK2B,PTK2B EXON Synonymous_S980S,Synonymous_S980S,Synonymous_S980S,Synonymous_S938S exm2258811 8 27315936 [A/G] NM_173174,NM_004103,NM_173176,NM_173175 PTK2B,PTK2B,PTK2B,PTK2B EXON Synonymous_S980S,Synonymous_S980S,Synonymous_S980S,Synonymous_S938S exm691761 8 27320526 [T/G] NM_000742 CHRNA2 EXON Missense_D478E exm691762 8 27320528 [T/C] NM_000742 CHRNA2 EXON Missense_D478N exm691773 8 27320726 [T/C] NM_000742 CHRNA2 EXON Missense_E412K exm691797 8 27321172 [C/G] NM_000742 CHRNA2 EXON Missense_R263P exm2258812 8 27321189 [A/G] NM_000742 CHRNA2 EXON Synonymous_Y257Y exm691804 8 27321229 [T/C] NM_000742 CHRNA2 EXON Missense_K244R exm691820 8 27324812 [T/C] NM_000742 CHRNA2 EXON Missense_G128D exm691821 8 27324822 [T/C] NM_000742 CHRNA2 EXON Missense_T125A exm691852 8 27327391 [A/G] NM_000742 CHRNA2 EXON Missense_R61W exm691857 8 27327432 [A/G] NM_000742 CHRNA2 EXON Missense_T47M exm691859 8 27328511 [A/G] NM_000742 CHRNA2 EXON Missense_T22I exm691870 8 27358495 [T/C] NM_001979,NM_001256482,NM_001256483,NM_001256484 EPHX2,EPHX2,EPHX2,EPHX2 EXON Missense_R52W,Silent,Silent,Silent exm691871 8 27358496 [A/G] NM_001979,NM_001256482,NM_001256483,NM_001256484 EPHX2,EPHX2,EPHX2,EPHX2 EXON Missense_R52Q,Silent,Silent,Silent exm691872 8 27358505 [A/G] NM_001979,NM_001256482,NM_001256483,NM_001256484 EPHX2,EPHX2,EPHX2,EPHX2 EXON Missense_K55R,Missense_K2R,Silent,Missense_K2R exm691873 8 27358529 [T/A] NM_001979,NM_001256482,NM_001256483,NM_001256484 EPHX2,EPHX2,EPHX2,EPHX2 Silent,Silent,Silent,Silent exm691877 8 27361200 [A/G] NM_001979,NM_001256482,NM_001256483,NM_001256484 EPHX2,EPHX2,EPHX2,EPHX2 EXON Missense_K89R,Missense_K36R,Missense_K23R,Missense_K36R exm691878 8 27361241 [T/C] NM_001979,NM_001256482,NM_001256483,NM_001256484 EPHX2,EPHX2,EPHX2,EPHX2 EXON Missense_R103C,Missense_R50C,Missense_R37C,Missense_R50C exm691884 8 27362514 [T/C] NM_001979,NM_001256482,NM_001256483,NM_001256484 EPHX2,EPHX2,EPHX2,EPHX2 EXON Missense_R130C,Missense_R77C,Missense_R64C,Missense_R77C exm691885 8 27362515 [A/G] NM_001979,NM_001256482,NM_001256483,NM_001256484 EPHX2,EPHX2,EPHX2,EPHX2 EXON Missense_R130H,Missense_R77H,Missense_R64H,Missense_R77H exm691888 8 27362587 [A/G] NM_001979,NM_001256482,NM_001256483,NM_001256484 EPHX2,EPHX2,EPHX2,EPHX2 EXON Missense_C154Y,Missense_C101Y,Missense_C88Y,Missense_C101Y exm691890 8 27362613 [T/C] NM_001979,NM_001256482,NM_001256483,NM_001256484 EPHX2,EPHX2,EPHX2,EPHX2 EXON Missense_P163S,Missense_P110S,Missense_P97S,Missense_P110S exm691891 8 27362623 [A/G] NM_001979,NM_001256482,NM_001256483,NM_001256484 EPHX2,EPHX2,EPHX2,EPHX2 EXON Missense_Y166C,Missense_Y113C,Missense_Y100C,Missense_Y113C exm691892 8 27362626 [A/G] NM_001979,NM_001256482,NM_001256483,NM_001256484 EPHX2,EPHX2,EPHX2,EPHX2 EXON Missense_K167R,Missense_K114R,Missense_K101R,Missense_K114R exm691894 8 27364389 [A/G] NM_001979,NM_001256482,NM_001256483,NM_001256484 EPHX2,EPHX2,EPHX2,EPHX2 EXON Missense_V180I,Missense_V127I,Missense_V114I,Missense_V127I exm691906 8 27369366 [T/C] NM_001979,NM_001256482,NM_001256483,NM_001256484 EPHX2,EPHX2,EPHX2,EPHX2 EXON Missense_P225L,Missense_P172L,Missense_P159L,Missense_P172L exm691915 8 27373274 [T/C] NM_001979,NM_001256482,NM_001256483,NM_001256484 EPHX2,EPHX2,EPHX2,EPHX2 EXON Missense_P259S,Missense_P206S,Missense_P193S,Missense_P206S exm691921 8 27373864 [T/C] NM_001979,NM_001256482,NM_001256483,NM_001256484 EPHX2,EPHX2,EPHX2,EPHX2 EXON Missense_R287W,Missense_R234W,Missense_R221W,Missense_R234W exm691922 8 27373865 [A/G] NM_001979,NM_001256482,NM_001256483,NM_001256484 EPHX2,EPHX2,EPHX2,EPHX2 EXON Missense_R287Q,Missense_R234Q,Missense_R221Q,Missense_R234Q exm691930 8 27378418 [A/G] NM_001979,NM_001256482,NM_001256483,NM_001256484 EPHX2,EPHX2,EPHX2,EPHX2 EXON Missense_D322N,Missense_D269N,Missense_D256N,Missense_D269N exm691938 8 27382945 [C/G] NM_001979,NM_001256482,NM_001256483,NM_001256484 EPHX2,EPHX2,EPHX2,EPHX2 EXON Missense_I375M,Missense_I322M,Missense_I309M,Missense_I322M exm691939 8 27382949 [A/G] NM_001979,NM_001256482,NM_001256483,NM_001256484 EPHX2,EPHX2,EPHX2,EPHX2 EXON Missense_A377T,Missense_A324T,Missense_A311T,Missense_A324T exm691949 8 27396208 [A/G] NM_001979,NM_001256482,NM_001256483,NM_001256484 EPHX2,EPHX2,EPHX2,EPHX2 EXON Synonymous_A425A,Synonymous_A372A,Synonymous_A359A,Synonymous_A372A exm691954 8 27398092 [T/C] NM_001979,NM_001256482,NM_001256483,NM_001256484 EPHX2,EPHX2,EPHX2,EPHX2 EXON Missense_P433L,Missense_P380L,Missense_P367L,Missense_P380L exm691957 8 27399009 [T/C] NM_001979,NM_001256482,NM_001256483,NM_001256484 EPHX2,EPHX2,EPHX2,EPHX2 EXON Nonsense_R467X,Nonsense_R414X,Nonsense_R401X,Nonsense_R414X exm691958 8 27399010 [A/G] NM_001979,NM_001256482,NM_001256483,NM_001256484 EPHX2,EPHX2,EPHX2,EPHX2 EXON Missense_R467Q,Missense_R414Q,Missense_R401Q,Missense_R414Q exm691960 8 27399019 [A/G] NM_001979,NM_001256482,NM_001256483,NM_001256484 EPHX2,EPHX2,EPHX2,EPHX2 EXON Missense_E470G,Missense_E417G,Missense_E404G,Missense_E417G exm691961 8 27399031 [A/C] NM_001979,NM_001256482,NM_001256483,NM_001256484 EPHX2,EPHX2,EPHX2,EPHX2 EXON Missense_K474T,Missense_K421T,Missense_K408T,Missense_K421T exm691968 8 27401314 [A/G] NM_001979,NM_001256482,NM_001256483,NM_001256484 EPHX2,EPHX2,EPHX2,EPHX2 EXON Missense_V500I,Missense_V447I,Missense_V434I,Missense_V447I exm691979 8 27402007 [C/G] NM_001979,NM_001256482,NM_001256483,NM_001256484 EPHX2,EPHX2,EPHX2,EPHX2 EXON Missense_A546P,Missense_A493P,Missense_A480P,Missense_A493P exm691981 8 27402020 [T/C] NM_001979,NM_001256482,NM_001256483,NM_001256484 EPHX2,EPHX2,EPHX2,EPHX2 EXON Missense_P550L,Missense_P497L,Missense_P484L,Missense_P497L exm691982 8 27402022 [T/G] NM_001979,NM_001256482,NM_001256483,NM_001256484 EPHX2,EPHX2,EPHX2,EPHX2 EXON Missense_V551L,Missense_V498L,Missense_V485L,Missense_V498L exm2270836 8 27405809 [T/C] exm-rs17466684 8 27452847 [A/G] exm692001 8 27456130 [A/G] NM_001831,NR_038335,NR_045494 CLU,CLU,CLU EXON Missense_S396L,Silent,Silent exm-rs2279590 8 27456253 [T/C] NM_001831,NR_038335,NR_045494 CLU,CLU,CLU Silent,Silent,Silent exm692005 8 27457326 [T/C] NM_001831,NR_038335,NR_045494 CLU,CLU,CLU EXON Missense_E379K,Silent,Silent exm692009 8 27457432 [G/C] NM_001831,NR_038335,NR_045494 CLU,CLU,CLU EXON Missense_E343D,Silent,Silent exm692013 8 27457479 [T/C] NM_001831,NR_038335,NR_045494 CLU,CLU,CLU EXON Missense_D328N,Silent,Silent exm692017 8 27457512 [T/G] NM_001831,NR_038335,NR_045494 CLU,CLU,CLU EXON Missense_N317H,Silent,Silent exm692023 8 27461894 [A/G] NM_001831,NR_038335,NR_045494 CLU,CLU,CLU EXON Missense_T283I,Silent,Silent exm692027 8 27462461 [A/G] NM_001831,NR_038335,NR_045494 CLU,CLU,CLU EXON Missense_P270L,Silent,Silent exm692042 8 27462629 [T/C] NM_001831,NR_038335,NR_045494 CLU,CLU,CLU EXON Missense_R214Q,Silent,Silent exm692050 8 27462725 [T/C] NM_001831,NR_038335,NR_045494 CLU,CLU,CLU EXON Missense_R182H,Silent,Silent exm692053 8 27463906 [T/C] NM_001831,NR_038335,NR_045494 CLU,CLU,CLU EXON Missense_V128I,Silent,Silent exm-rs11136000 8 27464519 [T/C] NM_001831,NR_038335,NR_045494 CLU,CLU,CLU Silent,Silent,Silent exm-rs1532278 8 27466315 [T/C] NM_001831,NR_038335,NR_045494 CLU,CLU,CLU Silent,Silent,Silent exm-rs569214 8 27487790 [T/G] exm2276010 8 27507233 [A/G] NM_182826,NM_016240 SCARA3,SCARA3 EXON Missense_G8S,Missense_G8S exm2258813 8 27507235 [T/C] NM_182826,NM_016240 SCARA3,SCARA3 EXON Synonymous_G8G,Synonymous_G8G exm692108 8 27509123 [A/G] NM_182826,NM_016240 SCARA3,SCARA3 EXON Missense_V69M,Missense_V69M exm2170716 8 27514397 [A/G] NM_182826,NM_016240 SCARA3,SCARA3 EXON Missense_D109N,Missense_D109N exm692115 8 27516046 [A/G] NM_182826,NM_016240 SCARA3,SCARA3 EXON Missense_H120R,Missense_H120R exm692117 8 27516075 [T/C] NM_182826,NM_016240 SCARA3,SCARA3 EXON Nonsense_R130X,Nonsense_R130X exm692118 8 27516076 [A/G] NM_182826,NM_016240 SCARA3,SCARA3 EXON Missense_R130Q,Missense_R130Q exm692129 8 27516360 [T/C] NM_182826,NM_016240 SCARA3,SCARA3 EXON Missense_F225L,Missense_F225L exm692133 8 27516403 [A/G] NM_182826,NM_016240 SCARA3,SCARA3 EXON Missense_R239Q,Missense_R239Q exm692152 8 27516661 [T/C] NM_182826,NM_016240 SCARA3,SCARA3 EXON Missense_M325T,Missense_M325T exm2170726 8 27516689 [C/G] NM_182826,NM_016240 SCARA3,SCARA3 EXON Nonsense_Y334X,Nonsense_Y334X exm692155 8 27516706 [T/C] NM_182826,NM_016240 SCARA3,SCARA3 EXON Missense_V340A,Missense_V340A exm692166 8 27516855 [T/C] NM_182826,NM_016240 SCARA3,SCARA3 EXON Missense_H390Y,Missense_H390Y exm692174 8 27516955 [A/G] NM_182826,NM_016240 SCARA3,SCARA3 EXON Missense_R423Q,Missense_R423Q exm692176 8 27516969 [A/G] NM_182826,NM_016240 SCARA3,SCARA3 EXON Missense_V428I,Missense_V428I exm692178 8 27517036 [A/G] NM_182826,NM_016240 SCARA3,SCARA3 EXON Missense_R450H,Missense_R450H exm692181 8 27528446 [T/C] NM_182826,NM_016240 SCARA3,SCARA3 EXON Silent,Missense_F467L exm692184 8 27528464 [A/G] NM_182826,NM_016240 SCARA3,SCARA3 EXON Silent,Missense_V473M exm2170733 8 27528620 [A/C] NM_182826,NM_016240 SCARA3,SCARA3 EXON Silent,Missense_K525Q exm692201 8 27528738 [T/C] NM_182826,NM_016240 SCARA3,SCARA3 EXON Silent,Missense_P564L exm2170736 8 27528765 [A/C] NM_182826,NM_016240 SCARA3,SCARA3 EXON Silent,Missense_P573Q exm692237 8 27622762 [A/G] NM_018246 CCDC25 EXON Missense_S12L exm692247 8 27633972 [G/C] NM_001017420 ESCO2 EXON Missense_C49W exm692252 8 27634004 [T/C] NM_001017420 ESCO2 EXON Missense_L60P exm692255 8 27634064 [T/C] NM_001017420 ESCO2 EXON Missense_A80V exm692261 8 27634150 [T/C] NM_001017420 ESCO2 EXON Missense_C109R exm2170749 8 27634171 [A/G] NM_001017420 ESCO2 EXON Missense_D116N exm2246833 8 27634207 [A/G] NM_001017420 ESCO2 EXON Missense_G128R exm692270 8 27634331 [A/G] NM_001017420 ESCO2 EXON Missense_R169Q exm692272 8 27634402 [T/C] NM_001017420 ESCO2 EXON Missense_R193W exm2258815 8 27634509 [A/G] NM_001017420 ESCO2 EXON Synonymous_P228P exm692279 8 27634553 [A/G] NM_001017420 ESCO2 EXON Missense_D243G exm692281 8 27634589 [T/C] NM_001017420 ESCO2 EXON Missense_F255S exm692285 8 27634645 [G/C] NM_001017420 ESCO2 EXON Missense_L274V exm692288 8 27637725 [A/G] NM_001017420 ESCO2 EXON Missense_H299R exm692290 8 27637758 [A/T] NM_001017420 ESCO2 EXON Missense_E310V exm692297 8 27645419 [A/C] NM_001017420 ESCO2 EXON Missense_Q344P exm692299 8 27645464 [A/C] NM_001017420 ESCO2 EXON Missense_Q359P exm692301 8 27645482 [A/G] NM_001017420 ESCO2 EXON Missense_R365K exm692302 8 27645493 [A/G] NM_001017420 ESCO2 EXON Missense_K369E exm692307 8 27649495 [T/C] NM_001017420 ESCO2 EXON Missense_R427C exm692315 8 27657082 [A/G] NM_001017420 ESCO2 EXON Missense_I508V exm692344 8 27668587 [C/G] NM_018492 PBK EXON Missense_E220D exm692349 8 27678145 [T/C] NM_018492 PBK EXON Missense_D178N exm692354 8 27679964 [A/G] NM_018492 PBK EXON Missense_L113F exm692355 8 27679981 [T/C] NM_018492 PBK EXON Missense_N107S exm692363 8 27685635 [A/G] NM_018492 PBK EXON Missense_Y47H exm692367 8 27685706 [A/G] NM_018492 PBK EXON Missense_S23L exm692369 8 27690612 [T/A] NM_018492 PBK EXON Missense_F7I exm692370 8 27690627 [T/C] NM_018492 PBK EXON Missense_E2K exm692378 8 27729527 [T/C] NM_173833 SCARA5 EXON Missense_R471H exm692399 8 27762346 [A/G] NM_173833 SCARA5 EXON Nonsense_R368X exm692402 8 27764676 [T/C] NM_173833 SCARA5 EXON Missense_R362H exm692404 8 27764716 [T/C] NM_173833 SCARA5 EXON Missense_D349N exm2266602 8 27766880 [A/G] NM_173833 SCARA5 Silent exm692410 8 27767231 [C/G] NM_173833 SCARA5 EXON Missense_D316H exm692416 8 27779093 [A/G] NM_173833 SCARA5 EXON Missense_A304V exm692442 8 27779612 [A/G] NM_173833 SCARA5 EXON Missense_A131V exm692445 8 27779648 [A/G] NM_173833 SCARA5 EXON Missense_A119V exm2170792 8 27779717 [A/C] NM_173833 SCARA5 EXON Missense_R96L exm692456 8 27824039 [T/C] NM_173833 SCARA5 EXON Missense_A45T exm692457 8 27824041 [T/C] NM_173833 SCARA5 EXON Missense_R44Q exm692459 8 27824045 [A/G] NM_173833 SCARA5 EXON Missense_R43W exm692465 8 27845125 [T/C] NM_173833 SCARA5 EXON Missense_N3S exm692469 8 27880851 [C/G] NM_001010906 NUGGC EXON Missense_P792A exm692472 8 27880868 [A/G] NM_001010906 NUGGC EXON Missense_P786L exm692475 8 27880923 [T/C] NM_001010906 NUGGC EXON Missense_A768T exm692484 8 27886844 [A/C] NM_001010906 NUGGC EXON Missense_V698G exm692486 8 27886851 [A/G] NM_001010906 NUGGC EXON Missense_R696W exm692490 8 27886904 [A/G] NM_001010906 NUGGC EXON Missense_T678M exm2258817 8 27888787 [A/G] NM_001010906 NUGGC EXON Synonymous_S627S exm692508 8 27898593 [T/C] NM_001010906 NUGGC EXON Missense_R529H exm692515 8 27898660 [T/C] NM_001010906 NUGGC EXON Missense_A507T exm692518 8 27898705 [A/G] NM_001010906 NUGGC EXON Missense_R492W exm692520 8 27903045 [A/G] NM_001010906 NUGGC EXON Missense_P482L exm692523 8 27903069 [T/C] NM_001010906 NUGGC EXON Missense_S474N exm692530 8 27913552 [T/C] NM_001010906 NUGGC EXON Missense_R379Q exm692533 8 27917997 [T/C] NM_001010906 NUGGC EXON Missense_D348G exm692537 8 27918050 [T/G] NM_001010906 NUGGC EXON Missense_H330Q exm692538 8 27918055 [T/C] NM_001010906 NUGGC EXON Missense_A329T exm692539 8 27918057 [T/C] NM_001010906 NUGGC EXON Missense_Q328R exm692542 8 27918079 [T/C] NM_001010906 NUGGC EXON Missense_I321V exm692550 8 27922169 [T/C] NM_001010906 NUGGC EXON Missense_R264H exm-rs4732812 8 27923388 [T/C] NM_001010906 NUGGC Silent exm692556 8 27925075 [T/C] NM_001010906 NUGGC EXON Missense_R223G exm692561 8 27925129 [A/C] NM_001010906 NUGGC EXON Nonsense_G205X exm692562 8 27925173 [T/C] NM_001010906 NUGGC EXON Missense_D190G exm692563 8 27925185 [A/G] NM_001010906 NUGGC EXON Missense_A186V exm692564 8 27925204 [T/C] NM_001010906 NUGGC EXON Missense_S180G exm692581 8 27927813 [T/C] NM_001010906 NUGGC EXON Missense_R35Q exm692582 8 27927822 [T/C] NM_001010906 NUGGC EXON Missense_R32Q exm692584 8 27927849 [C/G] NM_001010906 NUGGC EXON Missense_R23P exm692586 8 27931893 [A/G] NM_001010906 NUGGC EXON Missense_P12L exm692594 8 27950736 [A/G] NM_018091 ELP3 EXON Missense_R2K exm692615 8 27964293 [A/T] NM_018091 ELP3 EXON Missense_I108L exm692624 8 27967896 [A/G] NM_018091 ELP3 EXON Missense_M135V exm692626 8 27967909 [A/G] NM_018091 ELP3 EXON Missense_R139H exm692654 8 27995360 [A/G] NM_018091 ELP3 EXON Missense_R351Q exm692657 8 28013478 [A/G] NM_018091 ELP3 EXON Missense_V374I exm692667 8 28017873 [A/G] NM_018091 ELP3 EXON Missense_R462H exm692670 8 28017947 [T/C] NM_018091 ELP3 EXON Missense_R487W exm692676 8 28047217 [T/C] NM_018091 ELP3 EXON Missense_P540L exm2246842 8 28048668 [A/C] NM_018091 ELP3 EXON Silent exm2262465 8 28163935 [T/C] exm692683 8 28186792 [A/G] NM_006228 PNOC EXON Missense_D40N exm692685 8 28196684 [A/C] NM_006228 PNOC EXON Missense_Y85S exm692690 8 28196752 [A/C] NM_006228 PNOC EXON Missense_Q108K exm692713 8 28206696 [A/G] NM_018660 ZNF395 EXON Missense_A459V exm692745 8 28209296 [A/G] NM_018660 ZNF395 EXON Missense_R317W exm692746 8 28209314 [T/C] NM_018660 ZNF395 EXON Missense_D311N exm692747 8 28209319 [A/G] NM_018660 ZNF395 EXON Missense_T309I exm692761 8 28210916 [A/G] NM_018660 ZNF395 EXON Missense_A198V exm692781 8 28218466 [T/C] NM_018660 ZNF395 EXON Missense_K59R exm692812 8 28304769 [T/C] NM_001258211,NM_172366 FBXO16,FBXO16 EXON Missense_M242I,Missense_M254I exm692813 8 28304779 [G/C] NM_001258211,NM_172366 FBXO16,FBXO16 EXON Missense_R239T,Missense_R251T exm692824 8 28314293 [G/C] NM_001258211,NM_172366 FBXO16,FBXO16 EXON Missense_T154S,Missense_T166S exm2170962 8 28314441 [A/G] NM_001258211,NM_172366 FBXO16,FBXO16 EXON Missense_W105R,Missense_W117R exm692841 8 28321247 [T/C] NM_001258211,NM_172366 FBXO16,FBXO16 EXON Missense_R63Q,Missense_R75Q exm692846 8 28321280 [T/C] NM_001258211,NM_172366 FBXO16,FBXO16 EXON Missense_R52H,Missense_R64H exm692847 8 28321314 [A/G] NM_001258211,NM_172366 FBXO16,FBXO16 EXON Nonsense_Q41X,Nonsense_Q53X exm692861 8 28360541 [G/C] NM_145866,NM_017412 FZD3,FZD3 EXON Missense_T4S,Missense_T4S exm2270837 8 28362792 [T/G] NM_145866,NM_017412 FZD3,FZD3 Silent,Silent exm2170984 8 28385540 [T/C] NM_145866,NM_017412 FZD3,FZD3 EXON Synonymous_I421I,Synonymous_I421I exm692900 8 28409256 [A/G] NM_145866,NM_017412 FZD3,FZD3 EXON Missense_R514H,Missense_R514H exm692902 8 28413272 [A/G] NM_145866,NM_017412 FZD3,FZD3 EXON Missense_R524Q,Missense_R524Q exm692908 8 28420397 [A/G] NM_145866,NM_017412 FZD3,FZD3 EXON Missense_S624G,Missense_S624G exm692909 8 28420409 [C/G] NM_145866,NM_017412 FZD3,FZD3 EXON Missense_R628G,Missense_R628G exm692910 8 28420428 [A/G] NM_145866,NM_017412 FZD3,FZD3 EXON Missense_R634Q,Missense_R634Q exm2258820 8 28573810 [T/C] NM_001440,NR_073469,NR_073468 EXTL3,EXTL3,EXTL3 EXON Synonymous_H78H,Silent,Silent exm692945 8 28574099 [T/C] NM_001440,NR_073469,NR_073468 EXTL3,EXTL3,EXTL3 EXON Missense_R175W,Silent,Silent exm692959 8 28574415 [A/G] NM_001440,NR_073469,NR_073468 EXTL3,EXTL3,EXTL3 EXON Missense_R280H,Silent,Silent exm692973 8 28574708 [T/C] NM_001440,NR_073469,NR_073468 EXTL3,EXTL3,EXTL3 EXON Missense_R378W,Silent,Silent exm692977 8 28574829 [A/G] NM_001440,NR_073469,NR_073468 EXTL3,EXTL3,EXTL3 EXON Missense_R418Q,Silent,Silent exm692983 8 28574900 [G/C] NM_001440,NR_073469,NR_073468 EXTL3,EXTL3,EXTL3 EXON Missense_V442L,Silent,Silent exm692990 8 28575013 [T/C] NM_001440,NR_073469,NR_073468 EXTL3,EXTL3,EXTL3 EXON Synonymous_N479N,Silent,Silent exm692997 8 28575095 [T/G] NM_001440,NR_073469,NR_073468 EXTL3,EXTL3,EXTL3 EXON Missense_A507S,Silent,Silent exm693002 8 28575164 [A/G] NM_001440,NR_073469,NR_073468 EXTL3,EXTL3,EXTL3 EXON Missense_V530M,Silent,Silent exm693005 8 28575225 [T/C] NM_001440,NR_073469,NR_073468 EXTL3,EXTL3,EXTL3 EXON Missense_A550V,Silent,Silent exm693006 8 28575255 [T/C] NM_001440,NR_073469,NR_073468 EXTL3,EXTL3,EXTL3 EXON Missense_A560V,Silent,Silent exm693029 8 28595036 [T/G] NM_001440,NR_073469,NR_073468 EXTL3,EXTL3,EXTL3 EXON Synonymous_R759R,Silent,Silent exm693054 8 28625704 [A/G] NM_001172562,NM_001145159,NM_018250,NR_026826 INTS9,INTS9,INTS9,INTS9 EXON Nonsense_R622X,Nonsense_R625X,Nonsense_R646X,Silent exm693064 8 28627423 [T/C] NM_001172562,NM_001145159,NM_018250,NR_026826 INTS9,INTS9,INTS9,INTS9 EXON Missense_V571M,Missense_V574M,Missense_V595M,Silent exm693080 8 28633308 [A/G] NM_001172562,NM_001145159,NM_018250,NR_026826 INTS9,INTS9,INTS9,INTS9 EXON Missense_R487C,Missense_R490C,Missense_R511C,Silent exm693097 8 28638352 [T/C] NM_001172562,NM_001145159,NM_018250,NR_026826 INTS9,INTS9,INTS9,INTS9 EXON Missense_V396I,Missense_V399I,Missense_V420I,Silent exm693098 8 28638369 [T/C] NM_001172562,NM_001145159,NM_018250,NR_026826 INTS9,INTS9,INTS9,INTS9 EXON Missense_K390R,Missense_K393R,Missense_K414R,Silent exm693124 8 28669897 [A/C] NM_001172562,NM_001145159,NM_018250,NR_026826 INTS9,INTS9,INTS9,INTS9 EXON Missense_Y207D,Missense_Y210D,Missense_Y231D,Silent exm2171072 8 28669907 [G/C] NM_001172562,NM_001145159,NM_018250,NR_026826 INTS9,INTS9,INTS9,INTS9 EXON Missense_I203M,Missense_I206M,Missense_I227M,Silent exm693128 8 28671076 [T/C] NM_001172562,NM_001145159,NM_018250,NR_026826 INTS9,INTS9,INTS9,INTS9 EXON Missense_C157Y,Missense_C160Y,Missense_C181Y,Silent exm693134 8 28695158 [T/C] NM_001172562,NM_001145159,NM_018250,NR_026826 INTS9,INTS9,INTS9,INTS9 EXON Missense_G109S,Missense_G112S,Missense_G133S,Silent exm693180 8 28928041 [A/G] NM_015254 KIF13B EXON Missense_R1821W exm693181 8 28928068 [T/C] NM_015254 KIF13B EXON Missense_D1812N exm693196 8 28928272 [T/C] NM_015254 KIF13B EXON Missense_G1744S exm693219 8 28929739 [A/G] NM_015254 KIF13B EXON Missense_P1539L exm693222 8 28929820 [A/C] NM_015254 KIF13B EXON Missense_M1512R exm693228 8 28932851 [A/G] NM_015254 KIF13B EXON Missense_R1490C exm693229 8 28932857 [T/C] NM_015254 KIF13B EXON Missense_V1488M exm-rs7000444 8 28935457 [A/G] NM_015254 KIF13B Silent exm693235 8 28950309 [T/C] NM_015254 KIF13B EXON Missense_V1471I exm693237 8 28950348 [T/C] NM_015254 KIF13B EXON Missense_V1458M exm693244 8 28956695 [A/G] NM_015254 KIF13B EXON Missense_P1427S exm693251 8 28965673 [T/C] NM_015254 KIF13B EXON Missense_S1400G exm693263 8 28974364 [T/C] NM_015254 KIF13B EXON Missense_N1274S exm693271 8 28974430 [T/C] NM_015254 KIF13B EXON Missense_R1252H exm693321 8 28998058 [T/C] NM_015254 KIF13B EXON Missense_N804S exm693329 8 29004951 [A/G] NM_015254 KIF13B EXON Missense_S661L exm693338 8 29006153 [A/T] NM_015254 KIF13B EXON Missense_V585D exm693341 8 29006207 [A/C] NM_015254 KIF13B EXON Missense_S567I exm2270838 8 29021362 [T/C] NM_015254 KIF13B Silent exm693363 8 29023268 [T/G] NM_015254 KIF13B EXON Missense_K394Q exm693368 8 29025045 [T/C] NM_015254 KIF13B EXON Missense_D335N exm693384 8 29037654 [G/C] NM_015254 KIF13B EXON Synonymous_T229T exm693392 8 29039490 [T/A] NM_015254 KIF13B EXON Missense_S177R exm693397 8 29046043 [T/C] NM_015254 KIF13B EXON Missense_Y102C exm693402 8 29048538 [C/G] NM_015254 KIF13B EXON Missense_E67Q exm693405 8 29053708 [T/G] NM_015254 KIF13B EXON Missense_P53Q exm693452 8 29202937 [T/C] NM_057158,NM_001394 DUSP4,DUSP4 EXON Missense_G37D,Silent exm693454 8 29202943 [A/G] NM_057158,NM_001394 DUSP4,DUSP4 EXON Missense_A35V,Silent exm693455 8 29202959 [A/G] NM_057158,NM_001394 DUSP4,DUSP4 EXON Nonsense_R30X,Silent exm693456 8 29202979 [T/C] NM_057158,NM_001394 DUSP4,DUSP4 EXON Missense_G23E,Silent exm693467 8 29207714 [T/C] NM_001394 DUSP4 EXON Missense_A28T exm2266603 8 29247126 [A/G] exm2262466 8 29305308 [A/G] exm-rs10091038 8 29360305 [A/C] exm2266604 8 29850729 [A/G] exm693491 8 29923653 [A/G] NR_039605,NM_016127 MIR548O2,TMEM66 EXON Silent,Missense_A282V exm693496 8 29927182 [A/G] NR_039605,NM_016127 MIR548O2,TMEM66 EXON Silent,Missense_P226S exm693514 8 29927358 [A/G] NR_039605,NM_016127 MIR548O2,TMEM66 EXON Silent,Missense_S167L exm693519 8 29927462 [A/C] NR_039605,NM_016127 MIR548O2,TMEM66 EXON Silent,Missense_L132F exm693529 8 29931480 [T/G] NR_039605,NM_016127 MIR548O2,TMEM66 EXON Silent,Missense_K65N exm693531 8 29931524 [A/G] NR_039605,NM_016127 MIR548O2,TMEM66 EXON Silent,Missense_R51C exm693532 8 29931551 [T/C] NR_039605,NM_016127 MIR548O2,TMEM66 EXON Silent,Missense_V42I exm693535 8 29940361 [A/C] NR_039605,NM_016127 MIR548O2,TMEM66 Silent,Silent exm693554 8 29989461 [A/G] NR_039605,NM_001128208,NM_001100916 MIR548O2,LEPROTL1,MBOAT4 EXON Silent,Silent,Missense_X436R exm693564 8 29989832 [T/C] NR_039605,NM_001128208,NM_001100916 MIR548O2,LEPROTL1,MBOAT4 EXON Silent,Silent,Missense_R312Q exm693567 8 29990075 [T/C] NR_039605,NM_001128208,NM_001100916 MIR548O2,LEPROTL1,MBOAT4 EXON Silent,Silent,Missense_G231E exm693569 8 29990201 [T/C] NR_039605,NM_001128208,NM_001100916 MIR548O2,LEPROTL1,MBOAT4 EXON Silent,Silent,Missense_R189H exm693571 8 29994790 [A/G] NR_039605,NM_001128208,NM_001100916 MIR548O2,LEPROTL1,MBOAT4 EXON Silent,Missense_M94I,Silent exm693572 8 29994829 [G/C] NR_039605,NM_001128208,NM_001100916 MIR548O2,LEPROTL1,MBOAT4 EXON Silent,Missense_E107D,Silent exm693575 8 29994923 [A/G] NR_039605,NM_001128208,NM_001100916 MIR548O2,LEPROTL1,MBOAT4 EXON Silent,Missense_V139M,Silent exm693582 8 29996256 [T/C] NR_039605,NM_001100916 MIR548O2,MBOAT4 EXON Silent,Missense_T46A exm693593 8 30034668 [T/C] NR_039605,NM_006571 MIR548O2,DCTN6 EXON Silent,Missense_T74I exm693598 8 30036941 [A/G] NR_039605,NM_006571 MIR548O2,DCTN6 EXON Silent,Missense_M101V exm693604 8 30038081 [A/G] NR_039605,NM_006571 MIR548O2,DCTN6 EXON Silent,Missense_I137V exm693606 8 30038100 [T/C] NR_039605,NM_006571 MIR548O2,DCTN6 EXON Silent,Missense_I143T exm2266605 8 30383013 [A/G] NM_006867,NM_001008712,NM_001008710,NM_001008711 RBPMS,RBPMS,RBPMS,RBPMS Silent,Silent,Silent,Silent exm693642 8 30404933 [T/C] NM_006867,NM_001008712,NM_001008710,NM_001008711 RBPMS,RBPMS,RBPMS,RBPMS EXON Silent,Missense_P218L,Silent,Silent exm693644 8 30407042 [A/G] NM_006867,NM_001008710,NM_001008711 RBPMS,RBPMS,RBPMS EXON Silent,Silent,Missense_R185K exm693654 8 30416431 [A/G] NM_006867,NM_001008710,NM_001008711 RBPMS,RBPMS,RBPMS EXON Missense_T186A,Missense_T186A,Synonymous_L214L exm693671 8 30469817 [T/C] NM_002095 GTF2E2 EXON Missense_K183R exm693677 8 30469967 [A/G] NM_002095 GTF2E2 EXON Missense_I133T exm693682 8 30492623 [A/T] NM_002095 GTF2E2 EXON Missense_F62I exm-rs2978263 8 30498859 [T/C] NM_002095,NM_001206847 GTF2E2,SMIM18 Silent,Silent exm693685 8 30510976 [C/G] NM_002095 GTF2E2 EXON Missense_G47A exm693692 8 30511043 [A/G] NM_002095 GTF2E2 EXON Missense_R25C exm693698 8 30537086 [A/G] NM_000637,NM_001195103,NM_001195102,NM_001195104 GSR,GSR,GSR,GSR EXON Missense_T507I,Missense_T454I,Missense_T478I,Missense_T425I exm693701 8 30537107 [A/G] NM_000637,NM_001195103,NM_001195102,NM_001195104 GSR,GSR,GSR,GSR EXON Missense_T500M,Missense_T447M,Missense_T471M,Missense_T418M exm693706 8 30538483 [T/C] NM_000637,NM_001195103,NM_001195102,NM_001195104 GSR,GSR,GSR,GSR EXON Missense_A453T,Missense_A400T,Missense_A424T,Missense_A371T exm693714 8 30539471 [T/C] NM_000637,NM_001195103,NM_001195102,NM_001195104 GSR,GSR,GSR,GSR EXON Missense_I421V,Missense_I368V,Missense_I392V,Missense_I339V exm693717 8 30539505 [T/G] NM_000637,NM_001195103,NM_001195102,NM_001195104 GSR,GSR,GSR,GSR EXON Missense_N409K,Missense_N356K,Missense_N380K,Missense_N327K exm693720 8 30539560 [T/C] NM_000637,NM_001195103,NM_001195102,NM_001195104 GSR,GSR,GSR,GSR EXON Missense_R391Q,Missense_R338Q,Missense_R362Q,Missense_R309Q exm693726 8 30541661 [T/C] NM_000637,NM_001195103,NM_001195102,NM_001195104 GSR,GSR,GSR,GSR EXON Missense_N366S,Missense_N313S,Missense_N337S,Missense_N284S exm693730 8 30541689 [T/C] NM_000637,NM_001195103,NM_001195102,NM_001195104 GSR,GSR,GSR,GSR EXON Missense_I357V,Missense_I304V,Missense_I328V,Missense_I275V exm693739 8 30546776 [T/C] NM_000637,NM_001195103,NM_001195102,NM_001195104 GSR,GSR,GSR,GSR EXON Missense_G315S,Silent,Missense_G286S,Silent exm693741 8 30550502 [A/G] NM_000637,NM_001195103,NM_001195102,NM_001195104 GSR,GSR,GSR,GSR EXON Missense_V289A,Missense_V289A,Silent,Silent exm693750 8 30553937 [T/G] NM_000637,NM_001195103,NM_001195102,NM_001195104 GSR,GSR,GSR,GSR EXON Missense_A252D,Missense_A252D,Missense_A252D,Missense_A252D exm693754 8 30553995 [A/G] NM_000637,NM_001195103,NM_001195102,NM_001195104 GSR,GSR,GSR,GSR EXON Missense_R233C,Missense_R233C,Missense_R233C,Missense_R233C exm693756 8 30557599 [T/C] NM_000637,NM_001195103,NM_001195102,NM_001195104 GSR,GSR,GSR,GSR EXON Missense_G232S,Missense_G232S,Missense_G232S,Missense_G232S exm693759 8 30560611 [A/G] NM_000637,NM_001195103,NM_001195102,NM_001195104 GSR,GSR,GSR,GSR EXON Synonymous_P213P,Synonymous_P213P,Synonymous_P213P,Synonymous_P213P exm693763 8 30560655 [T/C] NM_000637,NM_001195103,NM_001195102,NM_001195104 GSR,GSR,GSR,GSR EXON Missense_A199T,Missense_A199T,Missense_A199T,Missense_A199T exm693769 8 30565624 [A/G] NM_000637,NM_001195103,NM_001195102,NM_001195104 GSR,GSR,GSR,GSR EXON Missense_R153C,Missense_R153C,Missense_R153C,Missense_R153C exm693774 8 30567332 [A/G] NM_000637,NM_001195103,NM_001195102,NM_001195104 GSR,GSR,GSR,GSR EXON Missense_R141C,Missense_R141C,Missense_R141C,Missense_R141C exm693798 8 30601707 [A/G] NM_005671 UBXN8 EXON Missense_M1V exm693799 8 30601725 [A/G] NM_005671 UBXN8 EXON Missense_V7I exm693800 8 30601758 [A/G] NM_005671 UBXN8 EXON Missense_V18M exm-IND8-30721328 8 30601787 [D/I] NM_005671 UBXN8 EXON exm693804 8 30608942 [T/C] NM_005671 UBXN8 EXON Missense_R40W exm693806 8 30608976 [T/C] NM_005671 UBXN8 EXON Missense_T51I exm693807 8 30609006 [T/C] NM_005671 UBXN8 EXON Missense_S61L exm693811 8 30612195 [T/C] NM_005671 UBXN8 EXON Missense_I99T exm693826 8 30623762 [T/C] NM_005671 UBXN8 EXON Nonsense_R222X exm693832 8 30623844 [A/G] NM_005671 UBXN8 EXON Missense_R249H exm693850 8 30655159 [T/C] NM_001009552 PPP2CB EXON Missense_V142I exm693857 8 30657228 [T/C] NM_001009552 PPP2CB EXON Missense_R49H exm693863 8 30694321 [T/C] NM_031271 TEX15 EXON Missense_Y2777C exm693864 8 30694326 [T/C] NM_031271 TEX15 EXON Nonsense_W2775X exm693866 8 30694351 [T/C] NM_031271 TEX15 EXON Missense_R2767Q exm693868 8 30694432 [A/G] NM_031271 TEX15 EXON Missense_S2740F exm693876 8 30694577 [T/C] NM_031271 TEX15 EXON Missense_G2692R exm693877 8 30694613 [T/C] NM_031271 TEX15 EXON Missense_G2680R exm693878 8 30694618 [T/C] NM_031271 TEX15 EXON Missense_Y2678C exm693880 8 30694656 [C/G] NM_031271 TEX15 EXON Missense_Q2665H exm693893 8 30694940 [G/C] NM_031271 TEX15 EXON Missense_L2571V exm2246863 8 30695047 [A/C] NM_031271 TEX15 EXON Missense_L2535R exm693900 8 30695111 [A/G] NM_031271 TEX15 EXON Missense_P2514S exm693914 8 30695438 [T/C] NM_031271 TEX15 EXON Missense_K2405E exm2274306 8 30699708 [T/C] NM_031271 TEX15 EXON Missense_I2276V exm2276012 8 30699807 [A/G] NM_031271 TEX15 EXON Missense_C2243R exm693941 8 30699992 [A/G] NM_031271 TEX15 EXON Missense_T2181I exm693942 8 30700014 [T/C] NM_031271 TEX15 EXON Missense_K2174E exm693944 8 30700091 [A/G] NM_031271 TEX15 EXON Missense_A2148V exm693946 8 30700122 [T/C] NM_031271 TEX15 EXON Missense_D2138N exm693947 8 30700143 [T/C] NM_031271 TEX15 EXON Missense_A2131T exm693950 8 30700170 [T/C] NM_031271 TEX15 EXON Missense_V2122I exm693951 8 30700203 [A/C] NM_031271 TEX15 EXON Missense_S2111A exm693953 8 30700248 [A/C] NM_031271 TEX15 EXON Missense_L2096V exm693956 8 30700379 [A/G] NM_031271 TEX15 EXON Missense_I2052T exm693957 8 30700386 [T/C] NM_031271 TEX15 EXON Missense_E2050K exm693958 8 30700439 [T/C] NM_031271 TEX15 EXON Missense_N2032S exm693960 8 30700565 [T/C] NM_031271 TEX15 EXON Missense_S1990N exm693962 8 30700593 [A/G] NM_031271 TEX15 EXON Missense_L1981F exm693963 8 30700598 [T/C] NM_031271 TEX15 EXON Missense_N1979S exm693964 8 30700638 [T/C] NM_031271 TEX15 EXON Missense_E1966K exm693967 8 30700695 [T/G] NM_031271 TEX15 EXON Missense_I1947L exm693987 8 30701210 [G/C] NM_031271 TEX15 EXON Missense_R1775T exm2171406 8 30701271 [A/C] NM_031271 TEX15 EXON Missense_A1755S exm693991 8 30701404 [T/G] NM_031271 TEX15 EXON Missense_L1710F exm694001 8 30701641 [C/G] NM_031271 TEX15 EXON Missense_Q1631H exm694003 8 30701708 [T/C] NM_031271 TEX15 EXON Missense_N1609S exm2274307 8 30701810 [A/G] NM_031271 TEX15 EXON Missense_T1575M exm694009 8 30701826 [G/C] NM_031271 TEX15 EXON Missense_L1570V exm694014 8 30701995 [A/C] NM_031271 TEX15 EXON Missense_D1513E exm694018 8 30702165 [T/C] NM_031271 TEX15 EXON Missense_E1457K exm694019 8 30702218 [T/C] NM_031271 TEX15 EXON Missense_K1439R exm694024 8 30702387 [T/G] NM_031271 TEX15 EXON Missense_L1383I exm694026 8 30702485 [A/G] NM_031271 TEX15 EXON Missense_S1350L exm694027 8 30702513 [T/C] NM_031271 TEX15 EXON Missense_A1341T exm694029 8 30702525 [A/C] NM_031271 TEX15 EXON Missense_L1337V exm694032 8 30702602 [T/C] NM_031271 TEX15 EXON Missense_N1311S exm694033 8 30702616 [G/C] NM_031271 TEX15 EXON Missense_E1306D exm694038 8 30702695 [T/C] NM_031271 TEX15 EXON Missense_N1280S exm694040 8 30702738 [T/C] NM_031271 TEX15 EXON Missense_V1266I exm694041 8 30702739 [G/C] NM_031271 TEX15 EXON Missense_D1265E exm694042 8 30702740 [T/C] NM_031271 TEX15 EXON Missense_D1265G exm694043 8 30702785 [T/C] NM_031271 TEX15 EXON Missense_N1250S exm694050 8 30702944 [G/C] NM_031271 TEX15 EXON Missense_S1197C exm2171417 8 30702959 [A/T] NM_031271 TEX15 EXON Missense_D1192V exm694053 8 30702980 [A/G] NM_031271 TEX15 EXON Missense_I1185T exm694063 8 30703167 [T/C] NM_031271 TEX15 EXON Missense_M1123V exm2171421 8 30703341 [A/T] NM_031271 TEX15 EXON Missense_S1065T exm694075 8 30703431 [T/C] NM_031271 TEX15 EXON Missense_I1035V exm694084 8 30703647 [A/G] NM_031271 TEX15 EXON Nonsense_R963X exm694085 8 30703691 [G/C] NM_031271 TEX15 EXON Missense_T948S exm694086 8 30703724 [T/C] NM_031271 TEX15 EXON Missense_R937Q exm2171426 8 30703730 [A/G] NM_031271 TEX15 EXON Missense_L935S exm2171427 8 30703790 [T/C] NM_031271 TEX15 EXON Missense_R915K exm694090 8 30703803 [T/C] NM_031271 TEX15 EXON Missense_E911K exm694092 8 30703845 [T/C] NM_031271 TEX15 EXON Missense_T897A exm694103 8 30703991 [C/G] NM_031271 TEX15 EXON Missense_P848R exm694110 8 30704120 [A/G] NM_031271 TEX15 EXON Missense_A805V exm694113 8 30704174 [A/G] NM_031271 TEX15 EXON Missense_P787L exm2171431 8 30704247 [T/C] NM_031271 TEX15 EXON Missense_E763K exm2171432 8 30704364 [G/C] NM_031271 TEX15 EXON Missense_A724P exm694123 8 30704519 [A/G] NM_031271 TEX15 EXON Missense_I672T exm694128 8 30704612 [T/C] NM_031271 TEX15 EXON Missense_H641R exm694129 8 30704681 [T/C] NM_031271 TEX15 EXON Missense_D618G exm694146 8 30704897 [T/C] NM_031271 TEX15 EXON Missense_D546G exm2171436 8 30705011 [A/T] NM_031271 TEX15 EXON Missense_H508L exm694160 8 30705249 [T/A] NM_031271 TEX15 EXON Missense_N429Y exm694162 8 30705342 [T/G] NM_031271 TEX15 EXON Missense_T398P exm694166 8 30705470 [C/G] NM_031271 TEX15 EXON Missense_S355T exm694167 8 30705504 [A/G] NM_031271 TEX15 EXON Missense_H344Y exm694171 8 30705705 [T/C] NM_031271 TEX15 EXON Missense_I277V exm694174 8 30705815 [T/C] NM_031271 TEX15 EXON Missense_N240S exm694178 8 30705909 [T/C] NM_031271 TEX15 EXON Missense_I209V exm694186 8 30706059 [A/T] NM_031271 TEX15 EXON Missense_I159F exm694189 8 30706073 [T/C] NM_031271 TEX15 EXON Missense_N154S exm694195 8 30706215 [C/G] NM_031271 TEX15 EXON Missense_L107V exm694197 8 30706224 [A/G] NM_031271 TEX15 EXON Missense_C104R exm694198 8 30706253 [A/G] NM_031271 TEX15 EXON Missense_A94V exm694207 8 30706446 [A/C] NM_031271 TEX15 EXON Missense_S30A exm2266724 8 30731171 [A/G] exm694227 8 30889577 [T/G] NM_001015508,NM_013357 PURG,PURG EXON Missense_E241A,Missense_E241A exm694229 8 30889646 [A/T] NM_001015508,NM_013357 PURG,PURG EXON Missense_Q218L,Missense_Q218L exm694255 8 30916058 [A/G] NM_000553 WRN EXON Missense_K32R exm694259 8 30916679 [A/G] NM_000553 WRN EXON Missense_R36Q exm694260 8 30916702 [G/C] NM_000553 WRN EXON Missense_L44V exm694267 8 30921824 [G/C] NM_000553 WRN EXON Missense_D77H exm694271 8 30921935 [A/G] NM_000553 WRN EXON Missense_V114I exm694278 8 30922521 [A/G] NM_000553 WRN EXON Missense_R149H exm694293 8 30925839 [T/G] NM_000553 WRN EXON Missense_N240K exm694299 8 30933799 [T/C] NM_000553 WRN EXON Missense_R279W exm694301 8 30938390 [A/G] NM_000553 WRN EXON Missense_I283V exm694304 8 30938513 [A/G] NM_000553 WRN EXON Missense_T324A exm694308 8 30938570 [A/G] NM_000553 WRN EXON Missense_E343K exm694310 8 30938648 [T/C] NM_000553 WRN EXON Nonsense_R369X exm694312 8 30938692 [T/G] NM_000553 WRN EXON Missense_L383F exm694314 8 30938704 [A/G] NM_000553 WRN EXON Missense_M387I exm694316 8 30938715 [T/G] NM_000553 WRN EXON Missense_C391F exm694332 8 30945390 [A/T] NM_000553 WRN EXON Missense_E510D exm694340 8 30948045 [A/G] NM_000553 WRN EXON Missense_T573A exm694341 8 30948047 [T/G] NM_000553 WRN EXON Synonymous_T573T exm694349 8 30949351 [C/G] NM_000553 WRN EXON Missense_S612C exm694350 8 30949398 [G/C] NM_000553 WRN EXON Missense_L628V exm694357 8 30954294 [T/C] NM_000553 WRN EXON Missense_R637W exm694367 8 30958442 [T/G] NM_000553 WRN EXON Missense_L687V exm694371 8 30969173 [T/C] NM_000553 WRN EXON Missense_R711W exm694373 8 30969188 [T/C] NM_000553 WRN EXON Missense_R716C exm-rs1800392 8 30973957 [T/G] NM_000553 WRN EXON Synonymous_L787L exm694394 8 30982426 [T/G] NM_000553 WRN EXON Missense_I912S exm694401 8 30989992 [T/G] NM_000553 WRN EXON Missense_I979M exm694404 8 30990005 [T/A] NM_000553 WRN EXON Missense_L984I exm694406 8 30998961 [A/G] NM_000553 WRN EXON Missense_A995T exm694408 8 30998964 [A/G] NM_000553 WRN EXON Missense_D996N exm694410 8 30999037 [A/G] NM_000553 WRN EXON Missense_R1020H exm694413 8 30999075 [T/C] NM_000553 WRN EXON Missense_R1033W exm694425 8 30999280 [T/G] NM_000553 WRN EXON Missense_L1074F exm694428 8 31000144 [T/C] NM_000553 WRN EXON Missense_S1079L exm694438 8 31004607 [T/C] NM_000553 WRN EXON Missense_S1141L exm2171549 8 31012230 [A/G] NM_000553 WRN EXON Missense_A1260T exm694461 8 31012237 [G/C] NM_000553 WRN EXON Missense_T1262R exm694465 8 31014939 [A/C] NM_000553 WRN EXON Missense_S1292Y exm694471 8 31024570 [A/G] NM_000553 WRN EXON Missense_V1339I exm694476 8 31024654 [T/C] NM_000553 WRN EXON Missense_C1367R exm694478 8 31024682 [T/C] NM_000553 WRN EXON Missense_P1376L exm694484 8 31030535 [T/C] NM_000553 WRN EXON Nonsense_R1406X exm694487 8 31030599 [C/G] NM_000553 WRN EXON Missense_R1427T exm2258828 8 31060215 [A/G] exm2258829 8 31486574 [A/G] exm694496 8 31497973 [T/C] NM_013962 NRG1 EXON Missense_A158V exm-rs10503887 8 31633447 [T/G] NM_013962 NRG1 Silent exm2266725 8 31887758 [A/G] NM_013962 NRG1 Silent exm2258831 8 31921721 [T/C] NM_013962 NRG1 Silent exm-rs16879552 8 32411216 [T/C] NM_013962,NM_013957,NM_001160008,NM_001160002,NM_013958,NM_013956,NM_013964,NM_004495,NM_013960,NM_001160007,NM_001160004,NM_001160005 NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm-rs2439312 8 32412359 [A/G] NM_013962,NM_013957,NM_001160008,NM_001160002,NM_013958,NM_013956,NM_013964,NM_004495,NM_013960,NM_001160007,NM_001160004,NM_001160005 NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm694511 8 32453356 [G/C] NM_013962,NM_013957,NM_001160008,NM_001160002,NM_013958,NM_013956,NM_013964,NM_004495,NM_013960,NM_001160007,NM_001160004,NM_001160005,NM_001159999,NM_001160001,NM_001159995 NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1 EXON Synonymous_P252P,Synonymous_P37P,Synonymous_P37P,Synonymous_P37P,Synonymous_P37P,Synonymous_P37P,Synonymous_P37P,Synonymous_P37P,Synonymous_P37P,Synonymous_P37P,Synonymous_P37P,Synonymous_P37P,Missense_P5A,Missense_P5A,Missense_P5A exm694512 8 32453358 [A/G] NM_013962,NM_013957,NM_001160008,NM_001160002,NM_013958,NM_013956,NM_013964,NM_004495,NM_013960,NM_001160007,NM_001160004,NM_001160005,NM_001159999,NM_001160001,NM_001159995 NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1 EXON Missense_R253Q,Missense_R38Q,Missense_R38Q,Missense_R38Q,Missense_R38Q,Missense_R38Q,Missense_R38Q,Missense_R38Q,Missense_R38Q,Missense_R38Q,Missense_R38Q,Missense_R38Q,Synonymous_P5P,Synonymous_P5P,Synonymous_P5P exm694515 8 32453386 [A/G] NM_013962,NM_013957,NM_001160008,NM_001160002,NM_013958,NM_013956,NM_013964,NM_004495,NM_013960,NM_001160007,NM_001160004,NM_001160005,NM_001159999,NM_001160001,NM_001159995 NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1 EXON Synonymous_S262S,Synonymous_S47S,Synonymous_S47S,Synonymous_S47S,Synonymous_S47S,Synonymous_S47S,Synonymous_S47S,Synonymous_S47S,Synonymous_S47S,Synonymous_S47S,Synonymous_S47S,Synonymous_S47S,Missense_G15S,Missense_G15S,Missense_G15S exm694518 8 32453478 [A/T] NM_013962,NM_013957,NM_001160008,NM_001160002,NM_013958,NM_013956,NM_013964,NM_004495,NM_013960,NM_001160007,NM_001160004,NM_001160005,NM_001159999,NM_001160001,NM_001159995 NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1 EXON Missense_N293I,Missense_N78I,Missense_N78I,Missense_N78I,Missense_N78I,Missense_N78I,Missense_N78I,Missense_N78I,Missense_N78I,Missense_N78I,Missense_N78I,Missense_N78I,Missense_E45D,Missense_E45D,Missense_E45D exm694521 8 32463105 [A/G] NM_013962,NM_013957,NM_001160008,NM_001160002,NM_013958,NM_013956,NM_013964,NM_004495,NM_013960,NM_001160007,NM_001160004,NM_001160005,NM_001159999,NM_001160001,NM_001159995 NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1 EXON Missense_A317T,Missense_A102T,Missense_A102T,Missense_A102T,Missense_A102T,Missense_A102T,Missense_A102T,Missense_A102T,Missense_A102T,Missense_A102T,Missense_A102T,Missense_A102T,Missense_S69N,Missense_S69N,Missense_S69N exm694524 8 32463186 [A/G] NM_013962,NM_013957,NM_001160008,NM_001160002,NM_013958,NM_013956,NM_013964,NM_004495,NM_013960,NM_001160007,NM_001160004,NM_001160005,NM_001159999,NM_001160001,NM_001159995 NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1 EXON Missense_I344V,Missense_I129V,Missense_I129V,Missense_I129V,Missense_I129V,Missense_I129V,Missense_I129V,Missense_I129V,Missense_I129V,Missense_I129V,Missense_I129V,Missense_I129V,Missense_H96R,Missense_H96R,Missense_H96R exm694526 8 32472045 [T/C] NM_013962,NM_013957,NM_001160008,NM_001160002,NM_013958,NM_013956,NM_013964,NM_004495,NM_013960,NM_001160007,NM_001160004,NM_001160005,NM_001159999,NM_001160001,NM_001159995 NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1 EXON Silent,Synonymous_G138G,Synonymous_G138G,Synonymous_G138G,Synonymous_G138G,Synonymous_G138G,Synonymous_G138G,Synonymous_G138G,Synonymous_G138G,Silent,Synonymous_G138G,Silent,Missense_Y106H,Silent,Missense_Y106H exm694533 8 32505316 [T/C] NM_013962,NM_013957,NM_001160008,NM_001160002,NM_013958,NM_013956,NM_013964,NM_004495,NM_013960,NM_001160007,NM_001160004,NM_001160005,NM_001159999,NM_001160001,NM_001159995,NM_013959 NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_P27L exm694534 8 32505337 [A/C] NM_013962,NM_013957,NM_001160008,NM_001160002,NM_013958,NM_013956,NM_013964,NM_004495,NM_013960,NM_001160007,NM_001160004,NM_001160005,NM_001159999,NM_001160001,NM_001159995,NM_013959 NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_A34E exm694536 8 32505372 [A/G] NM_013962,NM_013957,NM_001160008,NM_001160002,NM_013958,NM_013956,NM_013964,NM_004495,NM_013960,NM_001160007,NM_001160004,NM_001160005,NM_001159999,NM_001160001,NM_001159995,NM_013959 NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_G46R exm694539 8 32505390 [A/G] NM_013962,NM_013957,NM_001160008,NM_001160002,NM_013958,NM_013956,NM_013964,NM_004495,NM_013960,NM_001160007,NM_001160004,NM_001160005,NM_001159999,NM_001160001,NM_001159995,NM_013959 NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_V52M exm694541 8 32505432 [A/C] NM_013962,NM_013957,NM_001160008,NM_001160002,NM_013958,NM_013956,NM_013964,NM_004495,NM_013960,NM_001160007,NM_001160004,NM_001160005,NM_001159999,NM_001160001,NM_001159995,NM_013959 NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_R66S exm694547 8 32505600 [A/G] NM_013962,NM_013957,NM_001160008,NM_001160002,NM_013958,NM_013956,NM_013964,NM_004495,NM_013960,NM_001160007,NM_001160004,NM_001160005,NM_001159999,NM_001160001,NM_001159995,NM_013959 NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_I122V exm694548 8 32505615 [G/C] NM_013962,NM_013957,NM_001160008,NM_001160002,NM_013958,NM_013956,NM_013964,NM_004495,NM_013960,NM_001160007,NM_001160004,NM_001160005,NM_001159999,NM_001160001,NM_001159995,NM_013959 NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_A127P exm694549 8 32505633 [G/C] NM_013962,NM_013957,NM_001160008,NM_001160002,NM_013958,NM_013956,NM_013964,NM_004495,NM_013960,NM_001160007,NM_001160004,NM_001160005,NM_001159999,NM_001160001,NM_001159995,NM_013959 NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_V133L exm694553 8 32505745 [T/C] NM_013962,NM_013957,NM_001160008,NM_001160002,NM_013958,NM_013956,NM_013964,NM_004495,NM_013960,NM_001160007,NM_001160004,NM_001160005,NM_001159999,NM_001160001,NM_001159995,NM_013959 NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_A170V exm694556 8 32505822 [T/C] NM_013962,NM_013957,NM_001160008,NM_001160002,NM_013958,NM_013956,NM_013964,NM_004495,NM_013960,NM_001160007,NM_001160004,NM_001160005,NM_001159999,NM_001160001,NM_001159995,NM_013959 NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_R196W exm2258834 8 32520472 [A/G] NM_013962,NM_013957,NM_001160008,NM_001160002,NM_013958,NM_013956,NM_013964,NM_004495,NM_013960,NM_001160007,NM_001160004,NM_001160005,NM_001159999,NM_001160001,NM_001159995,NM_013959 NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm694579 8 32611970 [T/G] NM_013957,NM_001160008,NM_013956,NM_013964,NM_013960,NM_001160004,NM_001159999,NM_001160001,NM_001159995,NM_001159996 NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1 EXON Missense_V258L,Missense_V258L,Missense_V266L,Missense_V261L,Missense_V261L,Missense_V258L,Missense_C233F,Missense_C199F,Missense_C216F,Missense_V107L exm694581 8 32613947 [A/G] NM_013957,NM_001160008,NM_013956,NM_013964,NM_013960,NM_001160004,NM_001159999,NM_001160001,NM_001159995,NM_001159996 NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1 EXON Missense_R274H,Missense_R274H,Missense_R282H,Missense_R277H,Missense_R277H,Missense_R274H,Synonymous_P249P,Synonymous_P215P,Synonymous_P232P,Missense_R123H exm694583 8 32613983 [T/C] NM_013957,NM_001160008,NM_013956,NM_013964,NM_013960,NM_001160004,NM_001159999,NM_001160001,NM_001159995,NM_001159996 NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1 EXON Missense_M286T,Missense_M286T,Missense_M294T,Missense_M289T,Missense_M289T,Missense_M286T,Synonymous_Y261Y,Synonymous_Y227Y,Synonymous_Y244Y,Missense_M135T exm694591 8 32617752 [A/G] NM_013957,NM_001160008,NM_013956,NM_013964,NM_013960,NM_001160004,NM_001159999,NM_001160001,NM_001159995,NM_001159996 NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1 EXON Missense_E363K,Missense_E363K,Missense_E371K,Missense_E366K,Missense_E366K,Missense_E363K,Missense_R338Q,Missense_R304Q,Missense_R321Q,Missense_E212K exm694593 8 32617788 [A/C] NM_013957,NM_001160008,NM_013956,NM_013964,NM_013960,NM_001160004,NM_001159999,NM_001160001,NM_001159995,NM_001159996 NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1 EXON Missense_N375H,Missense_N375H,Missense_N383H,Missense_N378H,Missense_N378H,Missense_N375H,Missense_K350T,Missense_K316T,Missense_K333T,Missense_N224H exm694595 8 32617814 [T/G] NM_013957,NM_001160008,NM_013956,NM_013964,NM_013960,NM_001160004,NM_001159999,NM_001160001,NM_001159995,NM_001159996 NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1 EXON Synonymous_G383G,Synonymous_G383G,Synonymous_G391G,Synonymous_G386G,Synonymous_G386G,Synonymous_G383G,Missense_G359W,Missense_G325W,Missense_G342W,Synonymous_G232G exm694596 8 32617888 [C/G] NM_013957,NM_001160008,NM_013956,NM_013964,NM_013960,NM_001160004,NM_001159999,NM_001160001,NM_001159995,NM_001159996 NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1 EXON Missense_T408S,Missense_T408S,Missense_T416S,Missense_T411S,Missense_T411S,Missense_T408S,Missense_N383K,Missense_N349K,Missense_N366K,Missense_T257S exm694611 8 32621295 [A/G] NM_013957,NM_013956,NM_013964,NM_013960,NM_001160004,NM_001159999,NM_001160001,NM_001159995,NM_001159996 NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1 EXON Missense_R430H,Missense_R438H,Missense_R433H,Silent,Silent,Synonymous_S405S,Synonymous_S371S,Synonymous_S388S,Silent exm2246882 8 32621325 [A/G] NM_013957,NM_013956,NM_013964,NM_013960,NM_001160004,NM_001159999,NM_001160001,NM_001159995,NM_001159996 NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1 EXON Missense_S440N,Missense_S448N,Missense_S443N,Silent,Silent,Synonymous_K415K,Synonymous_K381K,Synonymous_K398K,Silent exm694614 8 32621349 [A/G] NM_013957,NM_013956,NM_013964,NM_013960,NM_001160004,NM_001159999,NM_001160001,NM_001159995,NM_001159996 NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1 EXON Missense_E448G,Missense_E456G,Missense_E451G,Silent,Silent,Synonymous_G423G,Synonymous_G389G,Synonymous_G406G,Silent exm694615 8 32621362 [T/C] NM_013957,NM_013956,NM_013964,NM_013960,NM_001160004,NM_001159999,NM_001160001,NM_001159995,NM_001159996 NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1 EXON Synonymous_P452P,Synonymous_P460P,Synonymous_P455P,Silent,Silent,Missense_R428C,Missense_R394C,Missense_R411C,Silent exm694618 8 32621383 [T/C] NM_013957,NM_013956,NM_013964,NM_013960,NM_001160004,NM_001159999,NM_001160001,NM_001159995,NM_001159996 NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1 EXON Synonymous_S459S,Synonymous_S467S,Synonymous_S462S,Silent,Silent,Missense_H435Y,Missense_H401Y,Missense_H418Y,Silent exm694626 8 32621542 [A/C] NM_013957,NM_013956,NM_013964,NM_013960,NM_001160004,NM_001159999,NM_001160001,NM_001159995,NM_001159996 NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1 EXON Missense_S512R,Missense_S520R,Missense_S515R,Silent,Silent,Missense_P488T,Missense_P454T,Missense_P471T,Silent exm694629 8 32621630 [T/C] NM_013957,NM_013956,NM_013964,NM_013960,NM_001160004,NM_001159999,NM_001160001,NM_001159995,NM_001159996 NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1 EXON Missense_R542W,Missense_R550W,Missense_R545W,Silent,Silent,Missense_P517L,Missense_P483L,Missense_P500L,Silent exm694630 8 32621631 [A/G] NM_013957,NM_013956,NM_013964,NM_013960,NM_001160004,NM_001159999,NM_001160001,NM_001159995,NM_001159996 NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1 EXON Missense_R542Q,Missense_R550Q,Missense_R545Q,Silent,Silent,Synonymous_P517P,Synonymous_P483P,Synonymous_P500P,Silent exm694632 8 32621637 [T/C] NM_013957,NM_013956,NM_013964,NM_013960,NM_001160004,NM_001159999,NM_001160001,NM_001159995,NM_001159996 NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1 EXON Missense_A544V,Missense_A552V,Missense_A547V,Silent,Silent,Synonymous_G519G,Synonymous_G485G,Synonymous_G502G,Silent exm694635 8 32621805 [A/C] NM_013957,NM_013956,NM_013964,NM_013960,NM_001160004,NM_001159999,NM_001160001,NM_001159995,NM_001159996 NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1 EXON Missense_P600H,Missense_P608H,Missense_P603H,Silent,Silent,Synonymous_T575T,Synonymous_T541T,Synonymous_T558T,Silent exm694637 8 32621813 [T/C] NM_013957,NM_013956,NM_013964,NM_013960,NM_001160004,NM_001159999,NM_001160001,NM_001159995,NM_001159996 NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1 EXON Missense_R603C,Missense_R611C,Missense_R606C,Silent,Silent,Missense_P578L,Missense_P544L,Missense_P561L,Silent exm694638 8 32621844 [T/G] NM_013957,NM_013956,NM_013964,NM_013960,NM_001160004,NM_001159999,NM_001160001,NM_001159995,NM_001159996 NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1 EXON Missense_G613V,Missense_G621V,Missense_G616V,Silent,Silent,Missense_R588S,Missense_R554S,Missense_R571S,Silent exm2270840 8 32959945 [T/C] exm694646 8 33230142 [T/G] NM_032664 FUT10 EXON Missense_Q465K exm694654 8 33230240 [T/C] NM_032664 FUT10 EXON Missense_R432Q exm694658 8 33246504 [T/C] NM_032664 FUT10 EXON Missense_A397T exm694664 8 33246582 [A/G] NM_032664 FUT10 EXON Missense_R371W exm694666 8 33246591 [C/G] NM_032664 FUT10 EXON Missense_L368V exm694668 8 33246645 [A/G] NM_032664 FUT10 EXON Missense_Y350H exm694675 8 33246812 [T/C] NM_032664 FUT10 EXON Nonsense_W294X exm694676 8 33246891 [A/G] NM_032664 FUT10 EXON Missense_Y268H exm694680 8 33246951 [A/G] NM_032664 FUT10 EXON Nonsense_R248X exm694683 8 33246996 [A/C] NM_032664 FUT10 EXON Nonsense_E233X exm694690 8 33247152 [C/G] NM_032664 FUT10 EXON Missense_L181V exm694693 8 33247199 [A/G] NM_032664 FUT10 EXON Missense_T165I exm694701 8 33247241 [T/G] NM_032664 FUT10 EXON Missense_S151Y exm694706 8 33247280 [T/C] NM_032664 FUT10 EXON Missense_R138Q exm694713 8 33310808 [T/C] NM_032664 FUT10 EXON Missense_G101E exm2171684 8 33310844 [A/G] NM_032664 FUT10 EXON Missense_P89L exm694719 8 33310935 [A/G] NM_032664 FUT10 EXON Missense_L59F exm694723 8 33311017 [A/C] NM_032664 FUT10 EXON Missense_E31D exm694728 8 33318913 [T/C] NM_032664 FUT10 EXON Missense_V20I exm2270841 8 33342018 [T/G] exm694737 8 33342739 [T/C] NM_032509 MAK16 EXON Synonymous_D5D exm694745 8 33346299 [C/G] NM_032509 MAK16 EXON Missense_R75G exm694746 8 33346300 [A/G] NM_032509 MAK16 EXON Missense_R75Q exm694747 8 33346315 [A/G] NM_032509 MAK16 EXON Missense_R80Q exm694765 8 33354210 [A/G] NM_032509 MAK16 EXON Missense_S197N exm694766 8 33354212 [T/G] NM_032509 MAK16 EXON Missense_D198Y exm694772 8 33354253 [T/G] NM_032509 MAK16 EXON Missense_D211E exm694775 8 33354777 [C/G] NM_032509 MAK16 EXON Missense_D223H exm694789 8 33356711 [T/C] NM_032509,NM_001265581,NM_025115,NM_001102401 MAK16,TTI2,TTI2,TTI2 EXON Silent,Missense_A503T,Missense_A503T,Missense_A503T exm694802 8 33357994 [A/C] NM_032509,NM_001265581,NM_025115,NM_001102401 MAK16,TTI2,TTI2,TTI2 EXON Silent,Missense_L425R,Missense_L425R,Missense_L425R exm694805 8 33360956 [G/C] NM_001265581,NM_025115,NM_001102401 TTI2,TTI2,TTI2 EXON Missense_T417S,Missense_T417S,Missense_T417S exm694808 8 33361016 [T/C] NM_001265581,NM_025115,NM_001102401 TTI2,TTI2,TTI2 EXON Missense_G397E,Missense_G397E,Missense_G397E exm694817 8 33361318 [A/G] NM_001265581,NM_025115,NM_001102401 TTI2,TTI2,TTI2 EXON Missense_R355C,Missense_R355C,Missense_R355C exm694820 8 33361350 [T/C] NM_001265581,NM_025115,NM_001102401 TTI2,TTI2,TTI2 EXON Missense_R344Q,Missense_R344Q,Missense_R344Q exm694836 8 33369494 [T/C] NM_001265581,NM_025115,NM_001102401 TTI2,TTI2,TTI2 EXON Missense_D213G,Missense_D213G,Missense_D213G exm2171726 8 33369551 [C/G] NM_001265581,NM_025115,NM_001102401 TTI2,TTI2,TTI2 EXON Missense_G194A,Missense_G194A,Missense_G194A exm694863 8 33369995 [T/C] NM_001265581,NM_025115,NM_001102401 TTI2,TTI2,TTI2 EXON Missense_N46S,Missense_N46S,Missense_N46S exm694864 8 33370004 [T/C] NM_001265581,NM_025115,NM_001102401 TTI2,TTI2,TTI2 EXON Missense_R43Q,Missense_R43Q,Missense_R43Q exm694866 8 33370014 [A/G] NM_001265581,NM_025115,NM_001102401 TTI2,TTI2,TTI2 EXON Missense_P40S,Missense_P40S,Missense_P40S exm694931 8 33406359 [A/C] NM_024787 RNF122 EXON Missense_R127L exm694935 8 33406952 [A/G] NM_024787 RNF122 EXON Missense_P110L exm694936 8 33406959 [T/C] NM_024787 RNF122 EXON Missense_V108M exm694963 8 33451071 [T/C] NM_024025 DUSP26 EXON Missense_R139Q exm694965 8 33451084 [T/C] NM_024025 DUSP26 EXON Missense_D135N exm694994 8 33455009 [A/C] NM_024025 DUSP26 EXON Missense_A9S exm2262474 8 33462084 [T/C] exm2270842 8 33982495 [T/C] exm-rs6990255 8 34126948 [T/C] exm2270843 8 34524479 [T/C] exm2270962 8 34532101 [T/C] exm2270844 8 35184361 [T/C] NM_080872 UNC5D Silent exm2264286 8 35424695 [A/C] NM_080872 UNC5D Silent exm695029 8 35541244 [T/C] NM_080872 UNC5D EXON Synonymous_Y250Y exm695044 8 35579778 [A/G] NM_080872 UNC5D EXON Missense_V390I exm695045 8 35579787 [A/G] NM_080872 UNC5D EXON Missense_V393I exm695050 8 35579908 [A/G] NM_080872 UNC5D EXON Missense_R433H exm695053 8 35583721 [A/G] NM_080872 UNC5D EXON Missense_R452Q exm695084 8 35616857 [A/G] NM_080872 UNC5D EXON Missense_R728K exm695100 8 35647960 [A/G] NM_080872 UNC5D EXON Missense_D914G exm2264308 8 35688841 [A/C] exm2266609 8 36025847 [A/G] exm2270845 8 36459454 [T/C] exm2262477 8 36615252 [T/G] exm695105 8 36641947 [T/C] NM_001031836 KCNU1 EXON Nonsense_R7X exm695107 8 36642002 [T/C] NM_001031836 KCNU1 EXON Missense_A25V exm695123 8 36664952 [T/C] NM_001031836 KCNU1 EXON Nonsense_R214X exm695137 8 36671882 [T/C] NM_001031836 KCNU1 EXON Missense_T297I exm695139 8 36673151 [T/A] NM_001031836 KCNU1 EXON Missense_L314Q exm695144 8 36675211 [A/G] NM_001031836 KCNU1 EXON Missense_A347T exm695146 8 36675235 [A/G] NM_001031836 KCNU1 EXON Missense_D355N exm695148 8 36691109 [T/C] NM_001031836 KCNU1 EXON Missense_C382R exm695161 8 36698038 [A/C] NM_001031836 KCNU1 EXON Missense_L526M exm695166 8 36698521 [T/G] NM_001031836 KCNU1 EXON Missense_C568F exm695169 8 36703109 [T/C] NM_001031836 KCNU1 EXON Missense_L572P exm695170 8 36703120 [A/C] NM_001031836 KCNU1 EXON Missense_P576T exm695183 8 36721994 [T/C] NM_001031836 KCNU1 EXON Missense_P655L exm695184 8 36722008 [A/G] NM_001031836 KCNU1 EXON Missense_S660G exm695195 8 36763226 [A/G] NM_001031836 KCNU1 EXON Synonymous_R670R exm695197 8 36763248 [A/C] NM_001031836 KCNU1 EXON Missense_Q678K exm695198 8 36763273 [C/G] NM_001031836 KCNU1 EXON Missense_S686T exm695200 8 36763310 [G/C] NM_001031836 KCNU1 EXON Missense_D698E exm695201 8 36766832 [T/C] NM_001031836 KCNU1 EXON Nonsense_R704X exm695203 8 36766859 [T/C] NM_001031836 KCNU1 EXON Missense_R713W exm695204 8 36766896 [A/G] NM_001031836 KCNU1 EXON Missense_H725R exm695205 8 36766917 [A/G] NM_001031836 KCNU1 EXON Missense_R732Q exm695209 8 36767024 [T/C] NM_001031836 KCNU1 EXON Missense_W768R exm695222 8 36776388 [T/C] NM_001031836 KCNU1 EXON Nonsense_R857X exm695233 8 36788479 [A/G] NM_001031836 KCNU1 EXON Missense_N916S exm695234 8 36788587 [T/C] NM_001031836 KCNU1 EXON Missense_T952M exm695236 8 36788597 [C/G] NM_001031836 KCNU1 EXON Missense_L955F exm2246888 8 36790485 [T/G] NM_001031836 KCNU1 EXON Missense_F993L exm695247 8 36793064 [A/C] NM_001031836 KCNU1 EXON Missense_K1026Q exm695257 8 36793269 [T/C] NM_001031836 KCNU1 EXON Missense_P1094L exm695261 8 36793345 [A/G] NM_001031836 KCNU1 EXON Synonymous_Q1119Q exm695266 8 36793396 [C/G] NM_001031836 KCNU1 EXON Missense_E1136D exm2258846 8 37127143 [A/G] exm2266726 8 37445639 [A/G] exm2266611 8 37462419 [A/G] exm695299 8 37555338 [T/C] NM_025069 ZNF703 EXON Missense_P307S exm695327 8 37556163 [A/G] NM_025069 ZNF703 EXON Missense_A582T exm695379 8 37611614 [T/C] NM_007175 ERLIN2 EXON Missense_T334M exm695380 8 37620221 [A/G] NM_007198 PROSC EXON Missense_C15Y exm2258848 8 37623842 [T/C] NM_007198 PROSC EXON Synonymous_H96H exm695401 8 37630315 [A/G] NM_007198 PROSC EXON Missense_K121R exm695416 8 37635528 [T/C] NM_007198 PROSC EXON Missense_T245M exm695418 8 37635567 [T/C] NM_007198 PROSC EXON Missense_P258L exm2273448 8 37635649 [A/G] NM_007198 PROSC EXON Silent exm-rs6468442 8 37686749 [A/G] NM_032777 GPR124 Silent exm695474 8 37688966 [A/G] NM_032777 GPR124 EXON Missense_V320M exm695477 8 37689038 [A/G] NM_032777 GPR124 EXON Missense_V344M exm695478 8 37689051 [T/C] NM_032777 GPR124 EXON Missense_T348I exm695481 8 37689071 [A/G] NM_032777 GPR124 EXON Missense_A355T exm695484 8 37689093 [A/G] NM_032777 GPR124 EXON Missense_R362H exm695493 8 37690601 [A/G] NM_032777 GPR124 EXON Missense_G391S exm695497 8 37690634 [T/C] NM_032777 GPR124 EXON Missense_R402W exm695500 8 37690649 [A/G] NM_032777 GPR124 EXON Missense_G407S exm695501 8 37690653 [A/G] NM_032777 GPR124 EXON Missense_R408H exm2171984 8 37691330 [T/G] NM_032777 GPR124 EXON Missense_L474W exm695526 8 37692696 [T/C] NM_032777 GPR124 EXON Missense_A538V exm695527 8 37692704 [A/G] NM_032777 GPR124 EXON Missense_V541M exm695534 8 37692798 [A/G] NM_032777 GPR124 EXON Missense_R572Q exm695538 8 37692861 [A/G] NM_032777 GPR124 EXON Missense_R593H exm695539 8 37692882 [A/G] NM_032777 GPR124 EXON Missense_R600K exm695547 8 37693177 [A/G] NM_032777 GPR124 EXON Missense_V647I exm695558 8 37693279 [A/G] NM_032777 GPR124 EXON Missense_A681T exm695560 8 37695258 [A/G] NM_032777 GPR124 EXON Missense_G687D exm695565 8 37695317 [A/G] NM_032777 GPR124 EXON Missense_E707K exm695569 8 37696483 [A/G] NM_032777 GPR124 EXON Missense_A757T exm2172005 8 37696528 [A/G] NM_032777 GPR124 EXON Missense_V772M exm695574 8 37696570 [A/G] NM_032777 GPR124 EXON Missense_A786T exm695579 8 37697105 [A/G] NM_032777 GPR124 EXON Missense_I826V exm695587 8 37697735 [A/C] NM_032777 GPR124 EXON Missense_P870T exm695609 8 37698711 [A/G] NM_032777 GPR124 EXON Missense_G952D exm695617 8 37698902 [G/C] NM_032777 GPR124 EXON Missense_G1016R exm695620 8 37699106 [A/T] NM_032777 GPR124 EXON Missense_C1084S exm695638 8 37699794 [T/A] NM_032777 GPR124 EXON Missense_D1313V exm695647 8 37702012 [A/G] NM_018310 BRF2 EXON Missense_P419L exm695660 8 37702138 [A/G] NM_018310 BRF2 EXON Missense_T377I exm695671 8 37702308 [G/C] NM_018310 BRF2 EXON Missense_E320D exm695672 8 37702331 [A/G] NM_018310 BRF2 EXON Missense_R313W exm695675 8 37702445 [A/G] NM_018310 BRF2 EXON Missense_R275W exm695686 8 37702660 [T/C] NM_018310 BRF2 EXON Missense_R203Q exm695693 8 37704386 [A/C] NM_018310 BRF2 EXON Missense_K174N exm695698 8 37704588 [T/C] NM_018310 BRF2 EXON Missense_R107Q exm695700 8 37704619 [A/G] NM_018310 BRF2 EXON Missense_Y97H exm695712 8 37706113 [T/C] NM_018310 BRF2 Silent exm695714 8 37706129 [A/G] NM_018310 BRF2 EXON Missense_R67C exm695717 8 37707199 [C/G] NM_018310 BRF2 EXON Missense_V35L exm695724 8 37707277 [T/C] NM_018310 BRF2 EXON Missense_D9N exm695733 8 37720462 [T/C] NM_001002814,NM_025151 RAB11FIP1,RAB11FIP1 EXON Missense_N1268S,Missense_N634S exm695738 8 37720519 [T/C] NM_001002814,NM_025151 RAB11FIP1,RAB11FIP1 EXON Missense_R1249H,Missense_R615H exm695749 8 37728017 [A/G] NM_001002814,NM_025151 RAB11FIP1,RAB11FIP1 EXON Missense_M1185T,Missense_M551T exm695754 8 37728035 [A/G] NM_001002814,NM_025151 RAB11FIP1,RAB11FIP1 EXON Missense_V1179A,Missense_V545A exm695758 8 37728853 [A/G] NM_001002814,NM_025151 RAB11FIP1,RAB11FIP1 EXON Missense_S1156L,Silent exm695762 8 37728914 [T/C] NM_001002814,NM_025151 RAB11FIP1,RAB11FIP1 EXON Missense_A1136T,Silent exm695763 8 37728950 [T/C] NM_001002814,NM_025151 RAB11FIP1,RAB11FIP1 EXON Missense_A1124T,Silent exm695765 8 37728994 [C/G] NM_001002814,NM_025151 RAB11FIP1,RAB11FIP1 EXON Missense_S1109C,Silent exm695767 8 37729022 [T/G] NM_001002814,NM_025151 RAB11FIP1,RAB11FIP1 EXON Missense_P1100T,Silent exm695770 8 37729072 [A/G] NM_001002814,NM_025151 RAB11FIP1,RAB11FIP1 EXON Missense_P1083L,Silent exm695783 8 37729309 [A/G] NM_001002814,NM_025151 RAB11FIP1,RAB11FIP1 EXON Missense_V1004A,Silent exm2246895 8 37729544 [T/C] NM_001002814,NM_025151 RAB11FIP1,RAB11FIP1 EXON Missense_K926E,Silent exm695796 8 37729577 [T/C] NM_001002814,NM_025151 RAB11FIP1,RAB11FIP1 EXON Missense_G915R,Silent exm695800 8 37729634 [T/C] NM_001002814,NM_025151 RAB11FIP1,RAB11FIP1 EXON Missense_E896K,Silent exm695806 8 37729699 [A/G] NM_001002814,NM_025151 RAB11FIP1,RAB11FIP1 EXON Missense_T874M,Silent exm695812 8 37729769 [T/C] NM_001002814,NM_025151 RAB11FIP1,RAB11FIP1 EXON Missense_G851R,Silent exm695815 8 37729777 [A/G] NM_001002814,NM_025151 RAB11FIP1,RAB11FIP1 EXON Missense_A848V,Silent exm695821 8 37729870 [A/G] NM_001002814,NM_025151 RAB11FIP1,RAB11FIP1 EXON Missense_T817M,Silent exm695822 8 37729897 [T/C] NM_001002814,NM_025151 RAB11FIP1,RAB11FIP1 EXON Missense_R808H,Silent exm695823 8 37729898 [A/G] NM_001002814,NM_025151 RAB11FIP1,RAB11FIP1 EXON Missense_R808C,Silent exm695828 8 37729955 [A/G] NM_001002814,NM_025151 RAB11FIP1,RAB11FIP1 EXON Missense_R789W,Silent exm695829 8 37729970 [T/C] NM_001002814,NM_025151 RAB11FIP1,RAB11FIP1 EXON Missense_I784V,Silent exm695833 8 37730017 [A/G] NM_001002814,NM_025151 RAB11FIP1,RAB11FIP1 EXON Missense_A768V,Silent exm695844 8 37730200 [A/G] NM_001002814,NM_025151 RAB11FIP1,RAB11FIP1 EXON Missense_P707L,Silent exm695852 8 37730306 [A/T] NM_001002814,NM_025151 RAB11FIP1,RAB11FIP1 EXON Missense_M672L,Silent exm695854 8 37730317 [T/C] NM_001002814,NM_025151 RAB11FIP1,RAB11FIP1 EXON Missense_E668G,Silent exm695855 8 37730368 [A/G] NM_001002814,NM_025151 RAB11FIP1,RAB11FIP1 EXON Missense_A651V,Silent exm695864 8 37730486 [T/C] NM_001002814,NM_025151 RAB11FIP1,RAB11FIP1 EXON Missense_I612V,Silent exm695865 8 37730515 [A/G] NM_001002814,NM_025151 RAB11FIP1,RAB11FIP1 EXON Missense_I602T,Silent exm695866 8 37730569 [A/G] NM_001002814,NM_025151 RAB11FIP1,RAB11FIP1 EXON Missense_A584V,Silent exm695867 8 37730593 [A/G] NM_001002814,NM_025151 RAB11FIP1,RAB11FIP1 EXON Missense_V576A,Silent exm695873 8 37732033 [T/C] NM_001002814,NM_025151 RAB11FIP1,RAB11FIP1 EXON Missense_R541Q,Missense_R541Q exm695879 8 37732225 [A/G] NM_001002814,NM_025151 RAB11FIP1,RAB11FIP1 EXON Missense_S477L,Missense_S477L exm695880 8 37732240 [A/G] NM_001002814,NM_025151 RAB11FIP1,RAB11FIP1 EXON Missense_P472L,Missense_P472L exm695884 8 37732333 [A/G] NM_001002814,NM_025151 RAB11FIP1,RAB11FIP1 EXON Missense_T441M,Missense_T441M exm695898 8 37732583 [T/A] NM_001002814,NM_025151 RAB11FIP1,RAB11FIP1 EXON Missense_T358S,Missense_T358S exm2276015 8 37732819 [A/G] NM_001002814,NM_025151 RAB11FIP1,RAB11FIP1 EXON Missense_A279V,Missense_A279V exm695915 8 37734725 [A/G] NM_001002814,NM_025151 RAB11FIP1,RAB11FIP1 EXON Missense_P239L,Missense_P239L exm2172080 8 37734750 [C/G] NM_001002814,NM_025151 RAB11FIP1,RAB11FIP1 EXON Missense_L231V,Missense_L231V exm695916 8 37734755 [A/G] NM_001002814,NM_025151 RAB11FIP1,RAB11FIP1 EXON Missense_T229M,Missense_T229M exm695923 8 37734854 [A/G] NM_001002814,NM_025151 RAB11FIP1,RAB11FIP1 EXON Missense_T196M,Missense_T196M exm695944 8 37756847 [G/C] NM_001002814,NM_025151 RAB11FIP1,RAB11FIP1 EXON Missense_T38R,Missense_T38R exm695951 8 37791882 [T/C] NM_152413 GOT1L1 EXON Missense_V399I exm695956 8 37791960 [A/G] NM_152413 GOT1L1 EXON Missense_P373S exm695959 8 37791965 [T/C] NM_152413 GOT1L1 EXON Missense_Y371C exm2172097 8 37792627 [A/C] NM_152413 GOT1L1 EXON Nonsense_E346X exm695966 8 37792665 [T/C] NM_152413 GOT1L1 EXON Missense_Q333R exm695969 8 37793267 [T/C] NM_152413 GOT1L1 EXON Missense_R295H exm695984 8 37794515 [T/G] NM_152413 GOT1L1 EXON Missense_S194R exm695990 8 37794845 [T/C] NM_152413 GOT1L1 EXON Missense_D157N exm695992 8 37794902 [G/C] NM_152413 GOT1L1 EXON Missense_L138V exm695993 8 37795185 [T/C] NM_152413 GOT1L1 EXON Missense_R127H exm695995 8 37796297 [G/C] NM_152413 GOT1L1 EXON Missense_T73S exm696000 8 37796375 [A/G] NM_152413 GOT1L1 EXON Missense_P47L exm696002 8 37797459 [A/G] NM_152413 GOT1L1 EXON Missense_P30L exm696005 8 37797516 [G/C] NM_152413 GOT1L1 EXON Missense_P11R exm696018 8 37822931 [A/G] NM_000025 ADRB3 EXON Missense_R353C exm696032 8 37823315 [T/C] NM_000025 ADRB3 EXON Missense_A225T exm696038 8 37823476 [G/C] NM_000025 ADRB3 EXON Missense_A171G exm696041 8 37823527 [T/G] NM_000025 ADRB3 EXON Missense_A154D exm696052 8 37823798 [A/G] NM_000025 ADRB3 EXON Missense_W64R exm696062 8 37914689 [T/C] NM_004095 EIF4EBP1 EXON Missense_P79L exm696078 8 37963081 [C/G] NM_004674,NR_049736 ASH2L,ASH2L EXON Missense_G5R,Silent exm696103 8 37968336 [A/G] NM_004674,NR_049736,NM_001261832,NM_001105214 ASH2L,ASH2L,ASH2L,ASH2L EXON Missense_M190I,Silent,Missense_M96I,Missense_M96I exm696140 8 37996388 [T/C] NM_004674,NR_049736,NM_001261832,NM_001105214 ASH2L,ASH2L,ASH2L,ASH2L EXON Missense_R592C,Silent,Missense_R465C,Missense_R498C exm696153 8 38002823 [T/C] NM_000349 STAR EXON Missense_G221S exm696159 8 38003650 [T/C] NM_000349 STAR EXON Missense_G161R exm696164 8 38003899 [T/C] NM_000349 STAR EXON Missense_V125M exm696165 8 38003911 [A/G] NM_000349 STAR EXON Missense_R121W exm696170 8 38005840 [A/G] NM_000349 STAR EXON Missense_R62W exm696174 8 38006160 [A/G] NM_000349 STAR EXON Synonymous_L59L exm2172169 8 38006197 [A/G] NM_000349 STAR EXON Missense_T47M exm2258849 8 38025175 [T/C] NM_014462,NR_045493,NR_045492 LSM1,LSM1,LSM1 Silent,Silent,Silent exm696194 8 38029512 [A/G] NM_014462,NR_045493,NR_045492 LSM1,LSM1,LSM1 EXON Missense_I29T,Silent,Silent exm696202 8 38034460 [A/G] NM_004874,NM_001204878 BAG4,BAG4 EXON Missense_G25S,Missense_G25S exm696208 8 38050243 [A/G] NM_004874,NM_001204878 BAG4,BAG4 EXON Nonsense_W103X,Silent exm696209 8 38050255 [T/C] NM_004874,NM_001204878 BAG4,BAG4 EXON Missense_A107V,Silent exm696214 8 38065205 [A/G] NM_004874,NM_001204878 BAG4,BAG4 EXON Missense_R185H,Missense_R149H exm696217 8 38065246 [G/C] NM_004874,NM_001204878 BAG4,BAG4 EXON Missense_P199A,Missense_P163A exm696223 8 38066622 [T/C] NM_004874,NM_001204878 BAG4,BAG4 EXON Missense_A242V,Missense_A206V exm696231 8 38067528 [T/G] NM_004874,NM_001204878 BAG4,BAG4 EXON Missense_D297E,Missense_D261E exm696235 8 38067625 [A/G] NM_004874,NM_001204878 BAG4,BAG4 EXON Missense_D330N,Missense_D294N exm696249 8 38091917 [T/G] NM_015214,NM_001164234,NM_001164232 DDHD2,DDHD2,DDHD2 EXON Missense_G76C,Missense_G76C,Missense_G76C exm696250 8 38091918 [A/G] NM_015214,NM_001164234,NM_001164232 DDHD2,DDHD2,DDHD2 EXON Missense_G76D,Missense_G76D,Missense_G76D exm696263 8 38095662 [T/C] NM_015214,NM_001164234,NM_001164232 DDHD2,DDHD2,DDHD2 EXON Missense_T186M,Missense_T186M,Missense_T186M exm696278 8 38103310 [T/C] NM_015214,NM_001164232 DDHD2,DDHD2 EXON Missense_T300I,Missense_T300I exm696290 8 38103783 [C/G] NM_015214,NM_001164232 DDHD2,DDHD2 EXON Missense_Q364E,Missense_Q364E exm696291 8 38105232 [A/G] NM_015214,NM_001164232 DDHD2,DDHD2 EXON Missense_D376G,Missense_D376G exm696292 8 38105235 [T/C] NM_015214,NM_001164232 DDHD2,DDHD2 EXON Missense_S377L,Missense_S377L exm696302 8 38107319 [A/G] NM_015214,NM_001164232 DDHD2,DDHD2 EXON Missense_M448V,Missense_M448V exm696306 8 38109430 [T/G] NM_015214,NM_001164232 DDHD2,DDHD2 EXON Missense_G449C,Missense_G449C exm696314 8 38109669 [A/G] NM_015214,NM_001164232 DDHD2,DDHD2 EXON Missense_R494Q,Missense_R494Q exm696329 8 38111229 [A/T] NM_015214,NM_001164232 DDHD2,DDHD2 EXON Missense_C683S,Missense_C683S exm2172235 8 38123675 [G/C] NM_001102559,NM_032483 PPAPDC1B,PPAPDC1B EXON Nonsense_Y206X,Nonsense_Y206X exm696338 8 38123688 [T/C] NM_001102559,NM_032483 PPAPDC1B,PPAPDC1B EXON Missense_R202H,Missense_R202H exm696343 8 38124745 [T/C] NM_001102559,NM_032483,NM_001102560 PPAPDC1B,PPAPDC1B,PPAPDC1B EXON Silent,Silent,Missense_H168R exm696347 8 38124878 [A/G] NM_001102559,NM_032483,NM_001102560 PPAPDC1B,PPAPDC1B,PPAPDC1B EXON Missense_P124S,Missense_P124S,Missense_P124S exm696349 8 38125467 [G/C] NM_001102559,NM_032483,NM_001102560 PPAPDC1B,PPAPDC1B,PPAPDC1B EXON Missense_A96P,Missense_A96P,Missense_A96P exm696358 8 38126416 [A/G] NM_001102559,NM_032483,NM_001102560 PPAPDC1B,PPAPDC1B,PPAPDC1B EXON Missense_P56L,Missense_P56L,Missense_P56L exm2172253 8 38139034 [T/C] NM_023034 WHSC1L1 EXON Missense_R1190Q exm696386 8 38139080 [T/C] NM_023034 WHSC1L1 EXON Missense_V1175I exm696400 8 38147994 [A/C] NM_023034 WHSC1L1 EXON Missense_K1039N exm696410 8 38162117 [T/C] NM_023034 WHSC1L1 EXON Missense_V867I exm696435 8 38173493 [T/G] NM_023034 WHSC1L1 EXON Missense_E641D exm696445 8 38184289 [A/G] NM_023034,NM_017778 WHSC1L1,WHSC1L1 EXON Missense_T556M,Missense_T556M exm2277368 8 38184290 [T/A] NM_023034,NM_017778 WHSC1L1,WHSC1L1 EXON Missense_T556S,Missense_T556S exm696447 8 38184343 [T/C] NM_023034,NM_017778 WHSC1L1,WHSC1L1 EXON Missense_R538K,Missense_R538K exm696457 8 38187317 [A/G] NM_023034,NM_017778 WHSC1L1,WHSC1L1 EXON Missense_I387T,Missense_I387T exm696458 8 38187329 [C/G] NM_023034,NM_017778 WHSC1L1,WHSC1L1 EXON Missense_R383P,Missense_R383P exm696461 8 38188978 [T/G] NM_023034,NM_017778 WHSC1L1,WHSC1L1 EXON Missense_Q346K,Missense_Q346K exm696472 8 38205133 [A/G] NM_023034,NM_017778 WHSC1L1,WHSC1L1 EXON Missense_T186M,Missense_T186M exm696478 8 38205569 [T/C] NM_023034,NM_017778 WHSC1L1,WHSC1L1 EXON Missense_A41T,Missense_A41T exm696493 8 38257878 [C/G] NM_144652,NM_001199659,NM_001199660 LETM2,LETM2,LETM2 EXON Missense_R150T,Missense_R198T,Missense_R42T exm696494 8 38257886 [T/A] NM_144652,NM_001199659,NM_001199660 LETM2,LETM2,LETM2 EXON Missense_M153L,Missense_M201L,Missense_M45L exm696496 8 38257914 [C/G] NM_144652,NM_001199659,NM_001199660 LETM2,LETM2,LETM2 EXON Missense_S162C,Missense_S210C,Missense_S54C exm696501 8 38258455 [A/G] NM_144652,NM_001199659,NM_001199660 LETM2,LETM2,LETM2 EXON Missense_D195N,Missense_D243N,Missense_D87N exm696505 8 38260050 [T/C] NM_144652,NM_001199659,NM_001199660 LETM2,LETM2,LETM2 EXON Missense_A236V,Missense_A284V,Missense_A128V exm2172303 8 38260095 [A/C] NM_144652,NM_001199659,NM_001199660 LETM2,LETM2,LETM2 EXON Missense_A251D,Missense_A299D,Missense_A143D exm696510 8 38260109 [A/G] NM_144652,NM_001199659,NM_001199660 LETM2,LETM2,LETM2 EXON Missense_G256R,Missense_G304R,Missense_G148R exm696514 8 38260136 [A/G] NM_144652,NM_001199659,NM_001199660 LETM2,LETM2,LETM2 EXON Missense_E265K,Missense_E313K,Missense_E157K exm2246911 8 38261966 [A/G] NM_144652,NM_001199659,NM_001199660 LETM2,LETM2,LETM2 EXON Missense_R292H,Missense_R340H,Missense_R184H exm696519 8 38261987 [T/G] NM_144652,NM_001199659,NM_001199660 LETM2,LETM2,LETM2 EXON Missense_V299G,Missense_V347G,Missense_V191G exm696522 8 38262026 [T/C] NM_144652,NM_001199659,NM_001199660 LETM2,LETM2,LETM2 Silent,Silent,Silent exm696524 8 38264462 [T/A] NM_144652,NM_001199659,NM_001199660 LETM2,LETM2,LETM2 Silent,Silent,Silent exm696526 8 38264516 [A/G] NM_144652,NM_001199659,NM_001199660 LETM2,LETM2,LETM2 EXON Missense_E329G,Missense_E377G,Missense_E221G exm696528 8 38264922 [A/G] NM_144652,NM_001199659,NM_001199660 LETM2,LETM2,LETM2 EXON Missense_I357V,Missense_I405V,Missense_I249V exm696532 8 38265755 [T/C] NM_144652,NM_001199659,NM_001199660 LETM2,LETM2,LETM2 EXON Missense_T385M,Missense_T433M,Missense_T277M exm696546 8 38271301 [A/G] NM_001174064,NM_023105,NM_001174065,NM_001174066,NM_001174067,NM_023110,NM_015850,NM_001174063,NM_023106 FGFR1,FGFR1,FGFR1,FGFR1,FGFR1,FGFR1,FGFR1,FGFR1,FGFR1 EXON Missense_P762S,Missense_P683S,Missense_P770S,Missense_P683S,Missense_P803S,Missense_P772S,Missense_P770S,Missense_P770S,Missense_P681S exm2172328 8 38274933 [T/C] NM_001174064,NM_023105,NM_001174065,NM_001174066,NM_001174067,NM_023110,NM_015850,NM_001174063,NM_023106 FGFR1,FGFR1,FGFR1,FGFR1,FGFR1,FGFR1,FGFR1,FGFR1,FGFR1 EXON Synonymous_S508S,Synonymous_S429S,Synonymous_S516S,Synonymous_S429S,Synonymous_S549S,Synonymous_S518S,Synonymous_S516S,Synonymous_S516S,Synonymous_S427S exm696586 8 38275808 [A/C] NM_001174064,NM_023105,NM_001174065,NM_001174066,NM_001174067,NM_023110,NM_015850,NM_001174063,NM_023106 FGFR1,FGFR1,FGFR1,FGFR1,FGFR1,FGFR1,FGFR1,FGFR1,FGFR1 EXON Missense_M446I,Missense_M367I,Missense_M454I,Missense_M367I,Missense_M487I,Missense_M456I,Missense_M454I,Missense_M454I,Missense_M365I exm2172332 8 38277064 [T/C] NM_001174064,NM_023105,NM_001174065,NM_001174066,NM_001174067,NM_023110,NM_015850,NM_001174063,NM_023106 FGFR1,FGFR1,FGFR1,FGFR1,FGFR1,FGFR1,FGFR1,FGFR1,FGFR1 EXON Missense_R416H,Missense_R335H,Missense_R422H,Missense_R335H,Missense_R455H,Missense_R424H,Missense_R422H,Missense_R424H,Missense_R333H exm696610 8 38282064 [A/G] NM_001174064,NM_023105,NM_001174065,NM_001174066,NM_001174067,NM_023110,NM_015850,NM_001174063,NM_023106 FGFR1,FGFR1,FGFR1,FGFR1,FGFR1,FGFR1,FGFR1,FGFR1,FGFR1 EXON Missense_I292T,Missense_I211T,Missense_I298T,Missense_I211T,Missense_I331T,Missense_I300T,Missense_I298T,Missense_I300T,Missense_I209T exm696641 8 38287238 [A/G] NM_001174064,NM_023105,NM_001174065,NM_001174066,NM_001174067,NM_023110,NM_015850,NM_001174063,NM_023106 FGFR1,FGFR1,FGFR1,FGFR1,FGFR1,FGFR1,FGFR1,FGFR1,FGFR1 EXON Missense_S99L,Silent,Missense_S107L,Silent,Missense_S140L,Missense_S107L,Missense_S107L,Missense_S107L,Silent exm696642 8 38287254 [T/C] NM_001174064,NM_023105,NM_001174065,NM_001174066,NM_001174067,NM_023110,NM_015850,NM_001174063,NM_023106 FGFR1,FGFR1,FGFR1,FGFR1,FGFR1,FGFR1,FGFR1,FGFR1,FGFR1 EXON Missense_V94I,Silent,Missense_V102I,Silent,Missense_V135I,Missense_V102I,Missense_V102I,Missense_V102I,Silent exm696647 8 38287296 [A/C] NM_001174064,NM_023105,NM_001174065,NM_001174066,NM_001174067,NM_023110,NM_015850,NM_001174063,NM_023106 FGFR1,FGFR1,FGFR1,FGFR1,FGFR1,FGFR1,FGFR1,FGFR1,FGFR1 EXON Missense_V80L,Silent,Missense_V88L,Silent,Missense_V121L,Missense_V88L,Missense_V88L,Missense_V88L,Silent exm696648 8 38287317 [T/C] NM_001174064,NM_023105,NM_001174065,NM_001174066,NM_001174067,NM_023110,NM_015850,NM_001174063,NM_023106 FGFR1,FGFR1,FGFR1,FGFR1,FGFR1,FGFR1,FGFR1,FGFR1,FGFR1 EXON Missense_I73V,Silent,Missense_I81V,Silent,Missense_I114V,Missense_I81V,Missense_I81V,Missense_I81V,Silent exm2266612 8 38299419 [A/G] NM_001174064,NM_023105,NM_001174065,NM_001174066,NM_001174067,NM_023110,NM_015850,NM_001174063,NM_023106 FGFR1,FGFR1,FGFR1,FGFR1,FGFR1,FGFR1,FGFR1,FGFR1,FGFR1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm696664 8 38314882 [A/G] NM_001174064,NM_023105,NM_001174065,NM_001174066,NM_001174067,NM_023110,NM_015850,NM_001174063,NM_023106 FGFR1,FGFR1,FGFR1,FGFR1,FGFR1,FGFR1,FGFR1,FGFR1,FGFR1 EXON Silent,Missense_P28L,Missense_P28L,Missense_P28L,Missense_P61L,Missense_P28L,Missense_P28L,Missense_P28L,Missense_P28L exm2262480 8 38369831 [A/C] NM_207412 C8orf86 EXON Silent exm696674 8 38369926 [A/C] NM_207412 C8orf86 EXON Missense_I217M exm696679 8 38369982 [C/G] NM_207412 C8orf86 EXON Missense_E199Q exm696696 8 38373958 [A/T] NM_207412 C8orf86 EXON Missense_I130F exm696699 8 38373997 [T/C] NM_207412 C8orf86 EXON Missense_A117T exm696700 8 38374010 [T/G] NM_207412 C8orf86 EXON Missense_H112Q exm696705 8 38385875 [A/G] NM_207412 C8orf86 EXON Missense_L94P exm696708 8 38385914 [T/C] NM_207412 C8orf86 EXON Missense_R81H exm696709 8 38385917 [T/C] NM_207412 C8orf86 EXON Missense_R80H exm696710 8 38385918 [A/G] NM_207412 C8orf86 EXON Missense_R80C exm696717 8 38386080 [T/C] NM_207412 C8orf86 EXON Missense_R26G exm696719 8 38386113 [A/T] NM_207412 C8orf86 EXON Missense_I15F exm-rs7832232 8 38469303 [A/G] exm696732 8 38645233 [A/C] NM_001146216,NM_006283,NM_001122824 TACC1,TACC1,TACC1 EXON Silent,Missense_Q45K,Missense_Q45K exm696734 8 38646251 [A/C] NM_001146216,NM_006283,NM_001122824 TACC1,TACC1,TACC1 EXON Silent,Missense_P64H,Silent exm2172389 8 38677157 [T/A] NM_001146216,NM_006283,NM_001122824 TACC1,TACC1,TACC1 EXON Silent,Missense_V132D,Silent exm2258850 8 38677242 [A/G] NM_001146216,NM_006283,NM_001122824 TACC1,TACC1,TACC1 EXON Silent,Synonymous_T160T,Silent exm696749 8 38677322 [T/C] NM_001146216,NM_006283,NM_001122824 TACC1,TACC1,TACC1 EXON Silent,Missense_P187L,Silent exm2172390 8 38677349 [T/C] NM_001146216,NM_006283,NM_001122824 TACC1,TACC1,TACC1 EXON Missense_M1T,Missense_M196T,Silent exm2246917 8 38677393 [A/G] NM_001146216,NM_006283,NM_001122824 TACC1,TACC1,TACC1 EXON Missense_A16T,Missense_A211T,Silent exm696756 8 38677396 [A/G] NM_001146216,NM_006283,NM_001122824 TACC1,TACC1,TACC1 EXON Missense_D17N,Missense_D212N,Silent exm696758 8 38677490 [T/C] NM_001146216,NM_006283,NM_001122824 TACC1,TACC1,TACC1 EXON Missense_I48T,Missense_I243T,Silent exm696765 8 38677579 [A/G] NM_001146216,NM_006283,NM_001122824 TACC1,TACC1,TACC1 EXON Missense_E78K,Missense_E273K,Silent exm696771 8 38677686 [A/G] NM_001146216,NM_006283,NM_001122824 TACC1,TACC1,TACC1 EXON Synonymous_E113E,Synonymous_E308E,Silent exm2172394 8 38677725 [G/C] NM_001146216,NM_006283,NM_001122824 TACC1,TACC1,TACC1 EXON Missense_E126D,Missense_E321D,Silent exm696777 8 38677745 [T/C] NM_001146216,NM_006283,NM_001122824 TACC1,TACC1,TACC1 EXON Missense_T133I,Missense_T328I,Silent exm696782 8 38677891 [G/C] NM_001146216,NM_006283,NM_001122824 TACC1,TACC1,TACC1 EXON Missense_L182V,Missense_L377V,Silent exm696784 8 38677907 [T/C] NM_001146216,NM_006283,NM_001122824 TACC1,TACC1,TACC1 EXON Missense_S187F,Missense_S382F,Silent exm696788 8 38677946 [A/G] NM_001146216,NM_006283,NM_001122824 TACC1,TACC1,TACC1 EXON Missense_N200S,Missense_N395S,Silent exm696789 8 38677958 [C/G] NM_001146216,NM_006283,NM_001122824 TACC1,TACC1,TACC1 EXON Missense_S204T,Missense_S399T,Silent exm696792 8 38678000 [A/G] NM_001146216,NM_006283,NM_001122824 TACC1,TACC1,TACC1 EXON Missense_G218D,Missense_G413D,Silent exm696806 8 38684695 [A/G] NM_001146216,NM_006283,NM_001122824 TACC1,TACC1,TACC1 EXON Missense_A293T,Missense_A488T,Missense_A78T exm696823 8 38693758 [T/C] NM_001146216,NM_006283,NM_001122824 TACC1,TACC1,TACC1 EXON Missense_L403F,Missense_L598F,Missense_L188F exm696839 8 38700814 [A/C] NM_001146216,NM_006283,NM_001122824 TACC1,TACC1,TACC1 EXON Missense_E515A,Missense_E710A,Missense_E300A exm696850 8 38775500 [A/G] NM_021623 PLEKHA2 EXON Missense_E18G exm696856 8 38793548 [G/C] NM_021623 PLEKHA2 EXON Missense_Q60E exm2172421 8 38801319 [A/G] NM_021623 PLEKHA2 EXON Missense_T71A exm696865 8 38809687 [A/G] NM_021623 PLEKHA2 EXON Missense_G164S exm696867 8 38809709 [A/G] NM_021623 PLEKHA2 EXON Missense_S171N exm696868 8 38809754 [A/T] NM_021623 PLEKHA2 EXON Missense_I186N exm696871 8 38810188 [A/G] NM_021623 PLEKHA2 EXON Missense_D223G exm696880 8 38827080 [T/G] NM_021623 PLEKHA2 EXON Missense_S353A exm696901 8 38832564 [A/G] NM_153692 HTRA4 EXON Missense_G161S exm696904 8 38832610 [A/T] NM_153692 HTRA4 EXON Missense_K176M exm696908 8 38834076 [G/C] NM_153692 HTRA4 EXON Missense_V197L exm696925 8 38835666 [T/C] NM_153692 HTRA4 EXON Synonymous_N322N exm696931 8 38840075 [A/G] NM_153692 HTRA4 Silent exm696936 8 38845455 [T/C] NM_153692 HTRA4 EXON Synonymous_S423S exm696941 8 38845519 [G/C] NM_153692 HTRA4 EXON Missense_D445H exm696955 8 38851112 [T/C] NM_001024380,NM_001024381,NM_078473,NM_031940 TM2D2,TM2D2,TM2D2,TM2D2 EXON Missense_E85G,Missense_E85G,Missense_E128G,Missense_E85G exm696961 8 38852950 [T/C] NM_001024380,NM_001024381,NM_078473,NM_031940 TM2D2,TM2D2,TM2D2,TM2D2 EXON Missense_I25V,Missense_I25V,Silent,Missense_I25V exm696967 8 38853811 [A/C] NM_001024380,NM_001024381,NM_078473,NM_031940 TM2D2,TM2D2,TM2D2,TM2D2 EXON Silent,Silent,Missense_A50S,Silent exm696968 8 38853813 [A/G] NM_001024380,NM_001024381,NM_078473,NM_031940 TM2D2,TM2D2,TM2D2,TM2D2 EXON Silent,Silent,Missense_A49V,Silent exm696969 8 38853814 [G/C] NM_001024380,NM_001024381,NM_078473,NM_031940 TM2D2,TM2D2,TM2D2,TM2D2 EXON Silent,Silent,Missense_A49P,Silent exm696973 8 38853894 [C/G] NM_001024380,NM_001024381,NM_078473,NM_031940 TM2D2,TM2D2,TM2D2,TM2D2 EXON Silent,Silent,Missense_G22A,Silent exm696976 8 38854041 [T/C] NM_001024380,NM_001024381,NM_078473,NM_031940 TM2D2,TM2D2,TM2D2,TM2D2 EXON Silent,Silent,Silent,Silent exm696986 8 38869207 [A/G] NM_003816,NR_027638,NR_027639,NR_027878 ADAM9,ADAM9,ADAM9,ADAM9 EXON Missense_E76K,Silent,Silent,Silent exm696988 8 38871509 [A/G] NM_003816,NR_027638,NR_027639,NR_027878 ADAM9,ADAM9,ADAM9,ADAM9 EXON Missense_V94I,Silent,Silent,Silent exm697004 8 38879190 [T/C] NM_003816,NR_027638,NR_027639,NR_027878 ADAM9,ADAM9,ADAM9,ADAM9 EXON Missense_A234V,Silent,Silent,Silent exm697012 8 38880817 [A/G] NM_003816,NR_027638,NR_027639,NR_027878 ADAM9,ADAM9,ADAM9,ADAM9 EXON Missense_R296Q,Silent,Silent,Silent exm697014 8 38884222 [A/T] NM_003816,NR_027638,NR_027639,NR_027878 ADAM9,ADAM9,ADAM9,ADAM9 EXON Missense_F341L,Silent,Silent,Silent exm697034 8 38912091 [A/G] NM_003816,NR_027638,NR_027639,NR_027878 ADAM9,ADAM9,ADAM9,ADAM9 EXON Missense_R465Q,Silent,Silent,Silent exm697039 8 38913201 [A/G] NM_003816,NR_027638,NR_027639,NR_027878 ADAM9,ADAM9,ADAM9,ADAM9 EXON Missense_N501D,Silent,Silent,Silent exm2270847 8 38915604 [T/G] NM_003816,NR_027638,NR_027639,NR_027878 ADAM9,ADAM9,ADAM9,ADAM9 Silent,Silent,Silent,Silent exm697067 8 38948816 [T/C] NM_003816,NR_027638,NR_027639,NR_027878 ADAM9,ADAM9,ADAM9,ADAM9 EXON Missense_P750L,Silent,Silent,Silent exm697075 8 38961159 [T/G] NM_003816,NR_027638,NR_027639,NR_027878 ADAM9,ADAM9,ADAM9,ADAM9 EXON Missense_Q800H,Silent,Silent,Silent exm2266727 8 39008680 [A/G] NM_145004 ADAM32 Silent exm697105 8 39018470 [A/G] NM_145004 ADAM32 EXON Missense_V194M exm697108 8 39022284 [A/G] NM_145004 ADAM32 EXON Missense_Y199C exm697112 8 39022312 [A/G] NM_145004 ADAM32 EXON Missense_I208M exm697114 8 39022585 [A/T] NM_145004 ADAM32 EXON Missense_S235T exm697120 8 39027494 [A/G] NM_145004 ADAM32 EXON Missense_R298H exm697121 8 39027508 [A/G] NM_145004 ADAM32 EXON Missense_V303I exm697129 8 39068671 [A/G] NM_145004 ADAM32 EXON Missense_N354S exm697134 8 39068765 [T/G] NM_145004 ADAM32 EXON Missense_M385I exm697135 8 39068766 [G/C] NM_145004 ADAM32 EXON Missense_Q386E exm697136 8 39068779 [T/C] NM_145004 ADAM32 EXON Missense_P390L exm697145 8 39080574 [A/G] NM_145004 ADAM32 EXON Missense_V448I exm697149 8 39080632 [C/G] NM_145004 ADAM32 EXON Missense_T467S exm697160 8 39091459 [A/G] NM_145004 ADAM32 EXON Missense_R559Q exm697162 8 39091482 [A/G] NM_145004 ADAM32 EXON Missense_G567S exm697167 8 39091546 [A/G] NM_145004 ADAM32 EXON Missense_R588Q exm697169 8 39103615 [A/G] NM_145004 ADAM32 EXON Missense_R611H exm697172 8 39103683 [A/G] NM_145004 ADAM32 EXON Missense_G634R exm697174 8 39111997 [A/G] NM_145004 ADAM32 EXON Missense_R656H exm697179 8 39112033 [T/C] NM_145004 ADAM32 EXON Missense_M668T exm697180 8 39114777 [A/G] NM_145004 ADAM32 EXON Missense_I693V exm697183 8 39114861 [A/G] NM_145004 ADAM32 EXON Missense_E721K exm697190 8 39133364 [A/G] NM_145004 ADAM32 EXON Missense_S753N exm697191 8 39133379 [T/C] NM_145004 ADAM32 EXON Missense_T758I exm697197 8 39141120 [A/C] NM_145004 ADAM32 EXON Missense_D778E exm697215 8 39442197 [A/G] NM_001190956,NM_014237 ADAM18,ADAM18 Silent,Silent exm697216 8 39442827 [T/C] NM_001190956,NM_014237 ADAM18,ADAM18 EXON Missense_P30S,Missense_P30S exm697236 8 39468070 [A/C] NM_001190956,NM_014237 ADAM18,ADAM18 EXON Missense_I123L,Missense_I123L exm697239 8 39468128 [T/A] NM_001190956,NM_014237 ADAM18,ADAM18 EXON Missense_Q142L,Missense_Q142L exm697243 8 39468155 [A/C] NM_001190956,NM_014237 ADAM18,ADAM18 EXON Missense_S151Y,Missense_S151Y exm697249 8 39468204 [G/C] NM_001190956,NM_014237 ADAM18,ADAM18 EXON Nonsense_Y167X,Nonsense_Y167X exm2246924 8 39486932 [A/G] NM_014237 ADAM18 EXON Missense_I188V exm697252 8 39494782 [A/G] NM_014237 ADAM18 Silent exm697253 8 39494828 [T/G] NM_014237 ADAM18 EXON Missense_V212F exm697254 8 39495058 [A/G] NM_014237 ADAM18 EXON Missense_M221I exm697255 8 39495062 [A/T] NM_014237 ADAM18 EXON Missense_T223S exm697263 8 39502890 [A/G] NM_014237 ADAM18 EXON Missense_V315I exm2172599 8 39505915 [T/C] NM_014237 ADAM18 EXON Missense_Y367H exm697274 8 39506018 [A/G] NM_014237 ADAM18 EXON Missense_N401S exm697281 8 39521389 [T/C] NM_014237 ADAM18 EXON Missense_C436R exm697287 8 39525632 [A/G] NM_014237 ADAM18 EXON Missense_R481H exm697296 8 39534997 [T/C] NM_014237 ADAM18 EXON Missense_H525Y exm697297 8 39535051 [T/C] NM_014237 ADAM18 EXON Missense_R543W exm697298 8 39535052 [A/G] NM_014237 ADAM18 EXON Missense_R543Q exm697304 8 39537617 [A/G] NM_014237 ADAM18 EXON Missense_A565T exm697305 8 39537626 [A/G] NM_014237 ADAM18 EXON Missense_T568A exm697316 8 39550138 [A/G] NM_014237 ADAM18 EXON Missense_C614Y exm2258854 8 39550178 [A/C] NM_014237 ADAM18 EXON Synonymous_T627T exm697318 8 39550180 [T/C] NM_014237 ADAM18 EXON Missense_T628I exm697319 8 39564310 [T/A] NM_014237 ADAM18 EXON Missense_I635K exm697321 8 39564367 [A/G] NM_014237 ADAM18 EXON Missense_K654R exm697324 8 39581279 [T/C] NM_014237 ADAM18 EXON Missense_T677I exm697329 8 39581378 [T/G] NM_014237 ADAM18 EXON Missense_R710I exm697331 8 39581395 [A/T] NM_014237 ADAM18 EXON Missense_S716T exm697333 8 39581417 [A/G] NM_014237 ADAM18 EXON Missense_E723G exm697335 8 39581425 [T/C] NM_014237 ADAM18 EXON Missense_R726C exm697337 8 39587427 [A/G] NM_014237 ADAM18 EXON Missense_V730I exm697338 8 39587442 [A/G] NM_014237 ADAM18 EXON Missense_D735N exm697347 8 39603992 [T/C] NM_001464 ADAM2 EXON Missense_E725K exm697354 8 39604116 [T/A] NM_001464 ADAM2 EXON Missense_K683N exm697355 8 39604144 [T/C] NM_001464 ADAM2 EXON Missense_R674H exm697357 8 39606830 [C/G] NM_001464 ADAM2 Silent exm2246926 8 39606872 [G/C] NM_001464 ADAM2 EXON Missense_S658T exm697359 8 39606900 [T/C] NM_001464 ADAM2 EXON Missense_D649N exm697361 8 39606921 [G/C] NM_001464 ADAM2 EXON Missense_P642A exm697362 8 39606929 [T/C] NM_001464 ADAM2 EXON Missense_Y639C exm697363 8 39606935 [A/G] NM_001464 ADAM2 EXON Missense_A637V exm697370 8 39613283 [A/C] NM_001464 ADAM2 EXON Missense_M587I exm2172636 8 39613406 [T/C] NM_001464 ADAM2 EXON Missense_I546M exm697374 8 39618749 [T/C] NM_001464 ADAM2 EXON Missense_D520G exm697378 8 39624373 [T/C] NM_001464 ADAM2 EXON Missense_G501S exm2258856 8 39624422 [A/G] NM_001464 ADAM2 EXON Synonymous_C484C exm2172642 8 39624429 [T/C] NM_001464 ADAM2 EXON Nonsense_W482X exm697380 8 39624438 [A/G] NM_001464 ADAM2 EXON Missense_L479P exm697386 8 39624713 [T/C] NM_001464 ADAM2 EXON Missense_G424S exm697390 8 39626922 [T/C] NM_001464 ADAM2 EXON Missense_G401R exm2172647 8 39626981 [A/G] NM_001464 ADAM2 EXON Missense_F381S exm697396 8 39627054 [T/C] NM_001464 ADAM2 EXON Missense_E357K exm697398 8 39627083 [T/C] NM_001464 ADAM2 EXON Missense_G347D exm697406 8 39644542 [G/C] NM_001464 ADAM2 EXON Missense_T281S exm697411 8 39645629 [A/G] NM_001464 ADAM2 EXON Missense_P262S exm697414 8 39645676 [A/G] NM_001464 ADAM2 EXON Missense_L246S exm697416 8 39645714 [A/C] NM_001464 ADAM2 EXON Missense_D233E exm697419 8 39646195 [A/G] NM_001464 ADAM2 EXON Missense_T212M exm697421 8 39646226 [T/C] NM_001464 ADAM2 EXON Missense_A202T exm697422 8 39646261 [T/A] NM_001464 ADAM2 Silent exm697429 8 39678652 [G/C] NM_001464 ADAM2 EXON Missense_E128Q exm697446 8 39694686 [T/C] NM_001464 ADAM2 EXON Missense_R34Q exm697447 8 39694687 [A/G] NM_001464 ADAM2 EXON Missense_R34W exm697450 8 39695662 [A/G] NM_001464 ADAM2 EXON Missense_R15W exm697452 8 39695671 [T/C] NM_001464 ADAM2 EXON Missense_G12S exm697454 8 39695677 [A/C] NM_001464 ADAM2 EXON Missense_G10W exm2172680 8 39695687 [A/C] NM_001464 ADAM2 EXON Missense_F6L exm697458 8 39771451 [A/G] NM_002164 IDO1 EXON Missense_A4T exm697463 8 39775653 [A/G] NM_002164 IDO1 EXON Missense_R77H exm697467 8 39775701 [A/G] NM_002164 IDO1 EXON Missense_G93D exm697468 8 39775722 [A/G] NM_002164 IDO1 EXON Missense_R100H exm697469 8 39776355 [A/G] NM_002164 IDO1 EXON Missense_V109I exm697472 8 39777621 [T/C] NM_002164 IDO1 EXON Missense_P142L exm697475 8 39780089 [C/G] NM_002164 IDO1 EXON Missense_F152L exm697477 8 39780097 [A/G] NM_002164 IDO1 EXON Missense_R155H exm697478 8 39780101 [A/T] NM_002164 IDO1 EXON Missense_D156E exm2172694 8 39780133 [G/C] NM_002164 IDO1 EXON Missense_S167C exm697496 8 39782839 [A/G] NM_002164 IDO1 EXON Missense_V269I exm697520 8 39821152 [A/C] NM_194294 IDO2 EXON Missense_P55H exm697528 8 39836662 [T/C] NM_194294 IDO2 EXON Missense_T104I exm697532 8 39840234 [A/G] NM_194294 IDO2 EXON Missense_I140V exm697533 8 39840258 [G/C] NM_194294 IDO2 EXON Missense_L148V exm697540 8 39845403 [A/G] NM_194294 IDO2 EXON Missense_I168V exm697542 8 39847259 [A/G] NM_194294 IDO2 EXON Missense_N203S exm697543 8 39847277 [A/G] NM_194294 IDO2 EXON Missense_N209S exm697544 8 39847306 [T/C] NM_194294 IDO2 EXON Nonsense_R219X exm697545 8 39847312 [T/A] NM_194294 IDO2 EXON Nonsense_R221X exm2246929 8 39847342 [T/G] NM_194294 IDO2 EXON Missense_L231V exm697550 8 39862881 [T/C] NM_194294 IDO2 EXON Missense_R248W exm697551 8 39862893 [A/T] NM_194294 IDO2 EXON Missense_S252T exm697555 8 39871107 [A/C] NM_194294 IDO2 EXON Missense_P261H exm697556 8 39871115 [A/C] NM_194294 IDO2 EXON Missense_L264M exm697566 8 39872972 [T/G] NM_194294 IDO2 EXON Missense_A372S exm697569 8 39873053 [A/G] NM_194294 IDO2 EXON Missense_A399T exm2270848 8 39921477 [T/C] exm2270964 8 39991573 [T/G] exm697583 8 40011079 [A/G] NM_020130 C8orf4 EXON Missense_V10I exm-rs11786458 8 40252701 [T/G] exm2262483 8 40406322 [A/C] NM_024645,NM_001135731 ZMAT4,ZMAT4 Silent,Silent exm697610 8 40438757 [T/C] NM_024645,NM_001135731 ZMAT4,ZMAT4 EXON Missense_T201A,Missense_T125A exm-rs4736872 8 40451701 [A/G] NM_024645,NM_001135731 ZMAT4,ZMAT4 Silent,Silent exm-rs2722425 8 40484239 [T/C] NM_024645,NM_001135731 ZMAT4,ZMAT4 Silent,Silent exm2270849 8 40523282 [T/C] NM_024645,NM_001135731 ZMAT4,ZMAT4 Silent,Silent exm697618 8 40554797 [A/T] NM_024645,NM_001135731 ZMAT4,ZMAT4 EXON Missense_L106M,Missense_L106M exm2258859 8 40625226 [T/G] NM_024645,NM_001135731 ZMAT4,ZMAT4 EXON Synonymous_V42V,Synonymous_V42V exm697631 8 40683094 [T/C] NM_024645,NM_001135731 ZMAT4,ZMAT4 EXON Synonymous_E34E,Synonymous_E34E exm2270850 8 40763844 [T/C] exm697642 8 41122934 [C/G] NM_003012 SFRP1 EXON Missense_L233V exm697655 8 41161051 [A/G] NM_003012 SFRP1 EXON Missense_T184M exm697718 8 41397254 [G/C] NM_032336 GINS4 EXON Missense_P119A exm2172794 8 41399354 [A/G] NM_032336 GINS4 EXON Missense_V171M exm697730 8 41399376 [A/G] NM_032336 GINS4 EXON Missense_R178Q exm697741 8 41456823 [A/G] NM_178819 AGPAT6 EXON Synonymous_A55A exm697743 8 41467003 [T/C] NM_178819 AGPAT6 EXON Synonymous_N78N exm697751 8 41468298 [A/G] NM_178819 AGPAT6 EXON Missense_T194A exm697775 8 41478447 [C/G] NM_178819 AGPAT6 EXON Missense_T433R exm2264288 8 41488652 [A/C] exm697786 8 41504012 [A/G] NM_152568 NKX6-3 EXON Missense_R122C exm697788 8 41504054 [A/C] NM_152568 NKX6-3 EXON Missense_D108Y exm697793 8 41504143 [T/C] NM_152568 NKX6-3 EXON Missense_R78Q exm697794 8 41504781 [T/C] NM_152568 NKX6-3 EXON Missense_A32T exm697795 8 41504802 [A/C] NM_152568 NKX6-3 EXON Missense_A25S exm697820 8 41519012 [T/C] NM_020478,NM_020477,NM_001142446,NM_020476,NM_020475,NM_001142445,NM_000037,NM_020480 ANK1,ANK1,ANK1,ANK1,ANK1,ANK1,ANK1,ANK1 EXON Missense_R147Q,Silent,Silent,Silent,Silent,Silent,Missense_R1872Q,Silent exm-rs516946 8 41519248 [T/C] NM_020478,NM_020477,NM_001142446,NM_020476,NM_020475,NM_001142445,NM_000037,NM_020480 ANK1,ANK1,ANK1,ANK1,ANK1,ANK1,ANK1,ANK1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm697831 8 41519348 [T/C] NM_020478,NM_020477,NM_001142446,NM_020476,NM_020475,NM_001142445,NM_000037,NM_020480 ANK1,ANK1,ANK1,ANK1,ANK1,ANK1,ANK1,ANK1 EXON Silent,Missense_D1702N,Silent,Missense_D1864N,Silent,Missense_D139N,Silent,Silent exm697849 8 41522370 [T/C] NM_020478,NM_020477,NM_001142446,NM_020476,NM_020475,NM_001142445,NM_000037,NM_020480 ANK1,ANK1,ANK1,ANK1,ANK1,ANK1,ANK1,ANK1 EXON Missense_E58K,Silent,Silent,Silent,Silent,Missense_E58K,Silent,Missense_E58K exm697851 8 41522407 [C/G] NM_020478,NM_020477,NM_001142446,NM_020476,NM_020475,NM_001142445,NM_000037,NM_020480 ANK1,ANK1,ANK1,ANK1,ANK1,ANK1,ANK1,ANK1 EXON Missense_D45E,Silent,Silent,Silent,Silent,Missense_D45E,Silent,Missense_D45E exm697855 8 41522469 [T/C] NM_020478,NM_020477,NM_001142446,NM_020476,NM_020475,NM_001142445,NM_000037,NM_020480 ANK1,ANK1,ANK1,ANK1,ANK1,ANK1,ANK1,ANK1 EXON Missense_V25M,Silent,Silent,Silent,Silent,Missense_V25M,Silent,Missense_V25M exm697861 8 41525880 [T/C] NM_020477,NM_001142446,NM_020476,NM_020475,NM_000037 ANK1,ANK1,ANK1,ANK1,ANK1 EXON Missense_E1605K,Missense_E1808K,Missense_E1767K,Missense_E1767K,Missense_E1767K exm697877 8 41529923 [T/C] NM_020477,NM_001142446,NM_020476,NM_020475,NM_000037 ANK1,ANK1,ANK1,ANK1,ANK1 EXON Missense_R1520Q,Missense_R1723Q,Missense_R1682Q,Missense_R1682Q,Missense_R1682Q exm697891 8 41530332 [T/C] NM_020477,NM_001142446,NM_020476,NM_020475,NM_000037 ANK1,ANK1,ANK1,ANK1,ANK1 EXON Silent,Missense_V1587I,Missense_V1546I,Missense_V1546I,Missense_V1546I exm697894 8 41530362 [A/G] NM_020477,NM_001142446,NM_020476,NM_020475,NM_000037 ANK1,ANK1,ANK1,ANK1,ANK1 EXON Silent,Missense_R1577C,Missense_R1536C,Missense_R1536C,Missense_R1536C exm2258863 8 41542093 [A/G] NM_020477,NM_001142446,NM_020476,NM_020475,NM_000037 ANK1,ANK1,ANK1,ANK1,ANK1 EXON Synonymous_R1502R,Synonymous_R1543R,Synonymous_R1502R,Synonymous_R1502R,Synonymous_R1502R exm697906 8 41542151 [A/C] NM_020477,NM_001142446,NM_020476,NM_020475,NM_000037 ANK1,ANK1,ANK1,ANK1,ANK1 EXON Missense_L1483R,Missense_L1524R,Missense_L1483R,Missense_L1483R,Missense_L1483R exm697908 8 41543675 [A/G] NM_020477,NM_001142446,NM_020476,NM_020475,NM_000037 ANK1,ANK1,ANK1,ANK1,ANK1 EXON Missense_A1462V,Missense_A1503V,Missense_A1462V,Missense_A1462V,Missense_A1462V exm697910 8 41543690 [T/C] NM_020477,NM_001142446,NM_020476,NM_020475,NM_000037 ANK1,ANK1,ANK1,ANK1,ANK1 EXON Missense_R1457H,Missense_R1498H,Missense_R1457H,Missense_R1457H,Missense_R1457H exm697913 8 41545707 [T/C] NM_020477,NM_001142446,NM_020476,NM_020475,NM_000037 ANK1,ANK1,ANK1,ANK1,ANK1 EXON Missense_V1409I,Missense_V1450I,Missense_V1409I,Missense_V1409I,Missense_V1409I exm697917 8 41546056 [A/G] NM_020477,NM_001142446,NM_020476,NM_020475,NM_000037 ANK1,ANK1,ANK1,ANK1,ANK1 EXON Missense_Y1386H,Missense_Y1427H,Missense_Y1386H,Missense_Y1386H,Missense_Y1386H exm2266728 8 41547386 [A/G] NM_020477,NM_001142446,NM_020476,NM_020475,NM_000037 ANK1,ANK1,ANK1,ANK1,ANK1 Silent,Silent,Silent,Silent,Silent exm697926 8 41547827 [A/G] NM_020477,NM_001142446,NM_020476,NM_020475,NM_000037 ANK1,ANK1,ANK1,ANK1,ANK1 EXON Missense_S1341L,Missense_S1382L,Missense_S1341L,Missense_S1341L,Missense_S1341L exm697930 8 41548003 [T/C] NM_020477,NM_001142446,NM_020476,NM_020475,NM_000037 ANK1,ANK1,ANK1,ANK1,ANK1 EXON Missense_M1325V,Missense_M1366V,Missense_M1325V,Missense_M1325V,Missense_M1325V exm697933 8 41548044 [T/C] NM_020477,NM_001142446,NM_020476,NM_020475,NM_000037 ANK1,ANK1,ANK1,ANK1,ANK1 EXON Missense_R1311Q,Missense_R1352Q,Missense_R1311Q,Missense_R1311Q,Missense_R1311Q exm-rs6474359 8 41549194 [T/C] NM_020477,NM_001142446,NM_020476,NM_020475,NM_000037 ANK1,ANK1,ANK1,ANK1,ANK1 Silent,Silent,Silent,Silent,Silent exm697934 8 41550195 [T/C] NM_020477,NM_001142446,NM_020476,NM_020475,NM_000037 ANK1,ANK1,ANK1,ANK1,ANK1 EXON Missense_V1277M,Missense_V1318M,Missense_V1277M,Missense_V1277M,Missense_V1277M exm697936 8 41550261 [A/G] NM_020477,NM_001142446,NM_020476,NM_020475,NM_000037 ANK1,ANK1,ANK1,ANK1,ANK1 EXON Missense_R1255C,Missense_R1296C,Missense_R1255C,Missense_R1255C,Missense_R1255C exm697937 8 41550297 [T/C] NM_020477,NM_001142446,NM_020476,NM_020475,NM_000037 ANK1,ANK1,ANK1,ANK1,ANK1 EXON Missense_V1243I,Missense_V1284I,Missense_V1243I,Missense_V1243I,Missense_V1243I exm697944 8 41550372 [A/G] NM_020477,NM_001142446,NM_020476,NM_020475,NM_000037 ANK1,ANK1,ANK1,ANK1,ANK1 EXON Missense_R1218W,Missense_R1259W,Missense_R1218W,Missense_R1218W,Missense_R1218W exm697963 8 41552208 [G/C] NM_020477,NM_001142446,NM_020476,NM_020475,NM_000037 ANK1,ANK1,ANK1,ANK1,ANK1 EXON Missense_G1077R,Missense_G1118R,Missense_G1077R,Missense_G1077R,Missense_G1077R exm697966 8 41552213 [A/G] NM_020477,NM_001142446,NM_020476,NM_020475,NM_000037 ANK1,ANK1,ANK1,ANK1,ANK1 EXON Missense_T1075I,Missense_T1116I,Missense_T1075I,Missense_T1075I,Missense_T1075I exm697982 8 41552791 [T/C] NM_020477,NM_001142446,NM_020476,NM_020475,NM_000037 ANK1,ANK1,ANK1,ANK1,ANK1 EXON Missense_V1007M,Missense_V1048M,Missense_V1007M,Missense_V1007M,Missense_V1007M exm697991 8 41553894 [A/C] NM_020477,NM_001142446,NM_020476,NM_020475,NM_000037 ANK1,ANK1,ANK1,ANK1,ANK1 EXON Missense_A983S,Missense_A1024S,Missense_A983S,Missense_A983S,Missense_A983S exm698001 8 41554011 [T/C] NM_020477,NM_001142446,NM_020476,NM_020475,NM_000037 ANK1,ANK1,ANK1,ANK1,ANK1 EXON Missense_A944T,Missense_A985T,Missense_A944T,Missense_A944T,Missense_A944T exm698009 8 41554216 [T/C] NM_020477,NM_001142446,NM_020476,NM_020475,NM_000037 ANK1,ANK1,ANK1,ANK1,ANK1 EXON Missense_V905M,Missense_V946M,Missense_V905M,Missense_V905M,Missense_V905M exm698020 8 41557033 [T/C] NM_020477,NM_001142446,NM_020476,NM_020475,NM_000037 ANK1,ANK1,ANK1,ANK1,ANK1 EXON Missense_R832Q,Missense_R873Q,Missense_R832Q,Missense_R832Q,Missense_R832Q exm698025 8 41559139 [A/G] NM_020477,NM_001142446,NM_020476,NM_020475,NM_000037 ANK1,ANK1,ANK1,ANK1,ANK1 EXON Missense_L797S,Missense_L830S,Missense_L797S,Missense_L797S,Missense_L797S exm2172926 8 41561560 [A/G] NM_020477,NM_001142446,NM_020476,NM_020475,NM_000037 ANK1,ANK1,ANK1,ANK1,ANK1 EXON Missense_S765L,Missense_S798L,Missense_S765L,Missense_S765L,Missense_S765L exm698040 8 41561921 [T/G] NM_020477,NM_001142446,NM_020476,NM_020475,NM_000037 ANK1,ANK1,ANK1,ANK1,ANK1 EXON Missense_H723N,Missense_H756N,Missense_H723N,Missense_H723N,Missense_H723N exm698042 8 41561956 [T/C] NM_020477,NM_001142446,NM_020476,NM_020475,NM_000037 ANK1,ANK1,ANK1,ANK1,ANK1 EXON Missense_Y711C,Missense_Y744C,Missense_Y711C,Missense_Y711C,Missense_Y711C exm698057 8 41566485 [T/G] NM_020477,NM_001142446,NM_020476,NM_020475,NM_000037 ANK1,ANK1,ANK1,ANK1,ANK1 EXON Nonsense_Y603X,Nonsense_Y636X,Nonsense_Y603X,Nonsense_Y603X,Nonsense_Y603X exm698065 8 41572523 [A/G] NM_020477,NM_001142446,NM_020476,NM_020475,NM_000037 ANK1,ANK1,ANK1,ANK1,ANK1 EXON Missense_R558W,Missense_R591W,Missense_R558W,Missense_R558W,Missense_R558W exm698071 8 41573232 [A/C] NM_020477,NM_001142446,NM_020476,NM_020475,NM_000037 ANK1,ANK1,ANK1,ANK1,ANK1 EXON Missense_G514C,Missense_G547C,Missense_G514C,Missense_G514C,Missense_G514C exm698079 8 41573288 [T/C] NM_020477,NM_001142446,NM_020476,NM_020475,NM_000037 ANK1,ANK1,ANK1,ANK1,ANK1 EXON Missense_N495S,Missense_N528S,Missense_N495S,Missense_N495S,Missense_N495S exm698083 8 41573331 [T/C] NM_020477,NM_001142446,NM_020476,NM_020475,NM_000037 ANK1,ANK1,ANK1,ANK1,ANK1 EXON Missense_G481S,Missense_G514S,Missense_G481S,Missense_G481S,Missense_G481S exm698087 8 41574488 [T/C] NM_020477,NM_001142446,NM_020476,NM_020475,NM_000037 ANK1,ANK1,ANK1,ANK1,ANK1 EXON Missense_V463I,Missense_V496I,Missense_V463I,Missense_V463I,Missense_V463I exm698109 8 41575677 [A/G] NM_020477,NM_001142446,NM_020476,NM_020475,NM_000037 ANK1,ANK1,ANK1,ANK1,ANK1 EXON Missense_R385C,Missense_R418C,Missense_R385C,Missense_R385C,Missense_R385C exm698116 8 41577289 [T/C] NM_020477,NM_001142446,NM_020476,NM_020475,NM_000037 ANK1,ANK1,ANK1,ANK1,ANK1 EXON Missense_D333N,Missense_D366N,Missense_D333N,Missense_D333N,Missense_D333N exm698132 8 41581991 [T/C] NM_020477,NM_001142446,NM_020476,NM_020475,NM_000037 ANK1,ANK1,ANK1,ANK1,ANK1 EXON Missense_V232I,Missense_V265I,Missense_V232I,Missense_V232I,Missense_V232I exm698139 8 41582031 [T/G] NM_020477,NM_001142446,NM_020476,NM_020475,NM_000037 ANK1,ANK1,ANK1,ANK1,ANK1 EXON Missense_N218K,Missense_N251K,Missense_N218K,Missense_N218K,Missense_N218K exm-rs4737009 8 41630405 [A/G] NM_020477,NM_001142446,NM_020476,NM_020475,NM_000037 ANK1,ANK1,ANK1,ANK1,ANK1 Silent,Silent,Silent,Silent,Silent exm698196 8 41790141 [G/C] NM_001099412,NM_001099413,NM_006766 KAT6A,KAT6A,KAT6A EXON Missense_S1866C,Missense_S1866C,Missense_S1866C exm698213 8 41790553 [A/T] NM_001099412,NM_001099413,NM_006766 KAT6A,KAT6A,KAT6A EXON Missense_I1729L,Missense_I1729L,Missense_I1729L exm698233 8 41790786 [A/G] NM_001099412,NM_001099413,NM_006766 KAT6A,KAT6A,KAT6A EXON Missense_P1651L,Missense_P1651L,Missense_P1651L exm2173004 8 41790969 [A/C] NM_001099412,NM_001099413,NM_006766 KAT6A,KAT6A,KAT6A EXON Missense_G1590V,Missense_G1590V,Missense_G1590V exm2258864 8 41791127 [A/G] NM_001099412,NM_001099413,NM_006766 KAT6A,KAT6A,KAT6A EXON Synonymous_S1537S,Synonymous_S1537S,Synonymous_S1537S exm698252 8 41791234 [T/C] NM_001099412,NM_001099413,NM_006766 KAT6A,KAT6A,KAT6A EXON Missense_V1502M,Missense_V1502M,Missense_V1502M exm698266 8 41791414 [T/C] NM_001099412,NM_001099413,NM_006766 KAT6A,KAT6A,KAT6A EXON Missense_A1442T,Missense_A1442T,Missense_A1442T exm2173010 8 41791521 [A/G] NM_001099412,NM_001099413,NM_006766 KAT6A,KAT6A,KAT6A EXON Missense_L1406S,Missense_L1406S,Missense_L1406S exm698271 8 41791549 [T/C] NM_001099412,NM_001099413,NM_006766 KAT6A,KAT6A,KAT6A EXON Missense_E1397K,Missense_E1397K,Missense_E1397K exm698275 8 41791593 [A/G] NM_001099412,NM_001099413,NM_006766 KAT6A,KAT6A,KAT6A EXON Missense_T1382M,Missense_T1382M,Missense_T1382M exm698293 8 41791923 [T/C] NM_001099412,NM_001099413,NM_006766 KAT6A,KAT6A,KAT6A EXON Missense_E1272G,Missense_E1272G,Missense_E1272G exm2246939 8 41791929 [A/C] NM_001099412,NM_001099413,NM_006766 KAT6A,KAT6A,KAT6A EXON Missense_V1270G,Missense_V1270G,Missense_V1270G exm698300 8 41792161 [T/C] NM_001099412,NM_001099413,NM_006766 KAT6A,KAT6A,KAT6A EXON Missense_V1193I,Missense_V1193I,Missense_V1193I exm698305 8 41792203 [T/C] NM_001099412,NM_001099413,NM_006766 KAT6A,KAT6A,KAT6A EXON Missense_I1179V,Missense_I1179V,Missense_I1179V exm698309 8 41792346 [T/C] NM_001099412,NM_001099413,NM_006766 KAT6A,KAT6A,KAT6A EXON Missense_R1131H,Missense_R1131H,Missense_R1131H exm698333 8 41798488 [A/G] NM_001099412,NM_001099413,NM_006766 KAT6A,KAT6A,KAT6A EXON Missense_R971C,Missense_R971C,Missense_R971C exm2258865 8 41798639 [G/C] NM_001099412,NM_001099413,NM_006766 KAT6A,KAT6A,KAT6A EXON Synonymous_L920L,Synonymous_L920L,Synonymous_L920L exm698349 8 41798866 [A/G] NM_001099412,NM_001099413,NM_006766 KAT6A,KAT6A,KAT6A EXON Missense_R845C,Missense_R845C,Missense_R845C exm2173037 8 41800374 [T/G] NM_001099412,NM_001099413,NM_006766 KAT6A,KAT6A,KAT6A EXON Missense_E791D,Missense_E791D,Missense_E791D exm698384 8 41832259 [T/A] NM_001099412,NM_001099413,NM_006766 KAT6A,KAT6A,KAT6A EXON Missense_M482K,Missense_M482K,Missense_M482K exm698393 8 41834704 [A/C] NM_001099412,NM_001099413,NM_006766 KAT6A,KAT6A,KAT6A EXON Missense_D395E,Missense_D395E,Missense_D395E exm698395 8 41834732 [T/C] NM_001099412,NM_001099413,NM_006766 KAT6A,KAT6A,KAT6A EXON Missense_R386Q,Missense_R386Q,Missense_R386Q exm698397 8 41834824 [T/A] NM_001099412,NM_001099413,NM_006766 KAT6A,KAT6A,KAT6A EXON Missense_K355N,Missense_K355N,Missense_K355N exm698401 8 41836174 [A/C] NM_001099412,NM_001099413,NM_006766 KAT6A,KAT6A,KAT6A EXON Missense_K343N,Missense_K343N,Missense_K343N exm698416 8 41905903 [T/C] NM_001099412,NM_001099413,NM_006766 KAT6A,KAT6A,KAT6A EXON Missense_K198R,Missense_K198R,Missense_K198R exm698427 8 41906095 [A/G] NM_001099412,NM_001099413,NM_006766 KAT6A,KAT6A,KAT6A EXON Missense_L134S,Missense_L134S,Missense_L134S exm698429 8 41906160 [C/G] NM_001099412,NM_001099413,NM_006766 KAT6A,KAT6A,KAT6A EXON Missense_E112D,Missense_E112D,Missense_E112D exm698440 8 42012309 [G/C] NM_006803,NM_001134296 AP3M2,AP3M2 EXON Missense_A35G,Missense_A35G exm698455 8 42022601 [T/C] NM_006803,NM_001134296 AP3M2,AP3M2 EXON Missense_T199I,Missense_T199I exm698468 8 42024746 [A/C] NM_006803,NM_001134296 AP3M2,AP3M2 EXON Missense_R290S,Missense_R290S exm2258866 8 42024823 [G/C] NM_006803,NM_001134296 AP3M2,AP3M2 EXON Synonymous_P315P,Synonymous_P315P exm698480 8 42033519 [A/G] NM_000930,NM_033011 PLAT,PLAT EXON Nonsense_R561X,Nonsense_R515X exm698491 8 42036464 [C/G] NM_000930,NM_033011 PLAT,PLAT EXON Missense_G494A,Missense_G448A exm2173099 8 42036534 [A/G] NM_000930,NM_033011 PLAT,PLAT EXON Missense_Y471H,Missense_Y425H exm698503 8 42037444 [A/G] NM_000930,NM_033011 PLAT,PLAT EXON Synonymous_L455L,Synonymous_L409L exm2258868 8 42037809 [T/C] NM_000930,NM_033011 PLAT,PLAT EXON Synonymous_K391K,Synonymous_K345K exm698516 8 42038027 [T/C] NM_000930,NM_033011 PLAT,PLAT EXON Missense_A356T,Missense_A310T exm698518 8 42038165 [A/G] NM_000930,NM_033011 PLAT,PLAT EXON Missense_R310C,Missense_R264C exm698521 8 42039484 [A/G] NM_000930,NM_033011 PLAT,PLAT EXON Missense_T287M,Missense_T241M exm2246942 8 42039490 [T/C] NM_000930,NM_033011 PLAT,PLAT EXON Missense_R285K,Missense_R239K exm698522 8 42039506 [T/C] NM_000930,NM_033011 PLAT,PLAT EXON Missense_V280M,Missense_V234M exm698531 8 42040327 [A/G] NM_000930,NM_033011 PLAT,PLAT EXON Missense_P238L,Missense_P192L exm698534 8 42040369 [T/C] NM_000930,NM_033011 PLAT,PLAT EXON Missense_R224H,Missense_R178H exm698535 8 42040370 [A/G] NM_000930,NM_033011 PLAT,PLAT EXON Missense_R224C,Missense_R178C exm698540 8 42042646 [A/G] NM_000930,NM_033011 PLAT,PLAT EXON Missense_A195V,Missense_A149V exm2266613 8 42044954 [A/G] NM_000930,NM_033011 PLAT,PLAT EXON Synonymous_D167D,Synonymous_D121D exm698549 8 42044964 [T/C] NM_000930,NM_033011 PLAT,PLAT EXON Missense_R164Q,Missense_R118Q exm698550 8 42044965 [A/G] NM_000930,NM_033011 PLAT,PLAT EXON Missense_R164W,Missense_R118W exm698553 8 42045019 [T/C] NM_000930,NM_033011 PLAT,PLAT EXON Missense_A146T,Missense_A100T exm698557 8 42045046 [T/C] NM_000930,NM_033011 PLAT,PLAT EXON Missense_G137S,Missense_G91S exm698558 8 42045047 [G/C] NM_000930,NM_033011 PLAT,PLAT EXON Missense_R136S,Missense_R90S exm698564 8 42045489 [A/G] NM_000930,NM_033011 PLAT,PLAT EXON Missense_A100V,Missense_A54V exm698574 8 42048904 [T/G] NM_000930,NM_033011 PLAT,PLAT EXON Missense_A34D,Missense_A34D exm698580 8 42050670 [T/G] NM_000930,NM_033011 PLAT,PLAT EXON Missense_L12M,Missense_L12M exm698620 8 42173814 [T/C] NM_001190720,NR_033818,NR_033819,NM_001242778,NM_001556,NR_040009 IKBKB,IKBKB,IKBKB,IKBKB,IKBKB,IKBKB EXON Missense_P294L,Silent,Silent,Missense_P237L,Missense_P296L,Silent exm698622 8 42174235 [A/G] NM_001190720,NR_033818,NR_033819,NM_001242778,NM_001556,NR_040009 IKBKB,IKBKB,IKBKB,IKBKB,IKBKB,IKBKB EXON Missense_H311R,Silent,Silent,Missense_H254R,Missense_H313R,Silent exm698625 8 42174328 [T/C] NM_001190720,NR_033818,NR_033819,NM_001242778,NM_001556,NR_040009 IKBKB,IKBKB,IKBKB,IKBKB,IKBKB,IKBKB EXON Missense_T342M,Silent,Silent,Missense_T285M,Missense_T344M,Silent exm698640 8 42176813 [T/C] NM_001190720,NR_033818,NR_033819,NM_001242778,NM_001556,NR_040009 IKBKB,IKBKB,IKBKB,IKBKB,IKBKB,IKBKB EXON Missense_C462R,Silent,Silent,Missense_C405R,Missense_C464R,Silent exm698644 8 42176927 [A/G] NM_001190720,NR_033818,NR_033819,NM_001242778,NM_001556,NR_040009 IKBKB,IKBKB,IKBKB,IKBKB,IKBKB,IKBKB EXON Missense_E500K,Silent,Silent,Missense_E443K,Missense_E502K,Silent exm698646 8 42177163 [A/G] NM_001190720,NR_033818,NR_033819,NM_001242778,NM_001556,NR_040009 IKBKB,IKBKB,IKBKB,IKBKB,IKBKB,IKBKB EXON Missense_R524Q,Silent,Silent,Missense_R467Q,Missense_R526Q,Silent exm698649 8 42178259 [A/G] NM_001190720,NR_033818,NR_033819,NM_001242778,NM_001556,NR_040009 IKBKB,IKBKB,IKBKB,IKBKB,IKBKB,IKBKB EXON Missense_E527K,Silent,Silent,Missense_E470K,Missense_E529K,Silent exm698650 8 42178280 [T/C] NM_001190720,NR_033818,NR_033819,NM_001242778,NM_001556,NR_040009 IKBKB,IKBKB,IKBKB,IKBKB,IKBKB,IKBKB EXON Missense_R534W,Silent,Silent,Missense_R477W,Missense_R536W,Silent exm698654 8 42178343 [A/G] NM_001190720,NR_033818,NR_033819,NM_001242778,NM_001556,NR_040009 IKBKB,IKBKB,IKBKB,IKBKB,IKBKB,IKBKB EXON Missense_G555R,Silent,Silent,Missense_G498R,Missense_G557R,Silent exm698663 8 42179960 [A/G] NM_001190720,NR_033818,NR_033819,NM_001242778,NM_001556,NR_040009 IKBKB,IKBKB,IKBKB,IKBKB,IKBKB,IKBKB EXON Missense_R643Q,Silent,Silent,Missense_R586Q,Missense_R645Q,Silent exm698667 8 42183529 [A/G] NM_001190720,NR_033818,NR_033819,NM_001242778,NM_001556,NR_040009 IKBKB,IKBKB,IKBKB,IKBKB,IKBKB,IKBKB EXON Missense_M674I,Silent,Silent,Missense_M617I,Missense_M676I,Silent exm2246945 8 42186655 [A/G] NM_001190720,NR_033818,NR_033819,NM_001242778,NM_001556,NR_040009 IKBKB,IKBKB,IKBKB,IKBKB,IKBKB,IKBKB EXON Missense_A708T,Silent,Silent,Missense_A651T,Missense_A710T,Silent exm698678 8 42196165 [A/G] NM_002690 POLB EXON Missense_Q8R exm698694 8 42206559 [A/G] NM_002690 POLB EXON Missense_E71G exm698696 8 42206595 [A/G] NM_002690 POLB EXON Missense_R83H exm698706 8 42213073 [A/G] NM_002690 POLB EXON Missense_R137Q exm2246946 8 42218849 [C/G] NM_002690 POLB EXON Missense_T196S exm698716 8 42226805 [C/G] NM_002690 POLB EXON Missense_P242R exm698719 8 42227369 [T/C] NM_002690 POLB EXON Missense_L259S exm698726 8 42229170 [A/G] NM_002690 POLB EXON Missense_E335K exm698729 8 42231688 [T/C] NM_014420 DKK4 EXON Missense_C202Y exm698731 8 42231764 [A/G] NM_014420 DKK4 EXON Missense_S177P exm698732 8 42231775 [C/G] NM_014420 DKK4 EXON Missense_G173A exm698734 8 42231805 [A/G] NM_014420 DKK4 EXON Missense_T163M exm698761 8 42256264 [C/G] NM_001135694,NM_005662 VDAC3,VDAC3 EXON Missense_T52R,Missense_T51R exm698762 8 42256321 [C/G] NM_001135694,NM_005662 VDAC3,VDAC3 EXON Missense_T71S,Missense_T70S exm698779 8 42259479 [A/G] NM_001135694,NM_005662 VDAC3,VDAC3 EXON Missense_Q167R,Missense_Q166R exm2173228 8 42259509 [T/C] NM_001135694,NM_005662 VDAC3,VDAC3 EXON Missense_A177V,Missense_A176V exm2173240 8 42275346 [T/A] NM_001257181,NM_006749,NM_001257180 SLC20A2,SLC20A2,SLC20A2 EXON Missense_M645K,Missense_M645K,Missense_M645K exm698792 8 42275383 [A/C] NM_001257181,NM_006749,NM_001257180 SLC20A2,SLC20A2,SLC20A2 EXON Missense_A633S,Missense_A633S,Missense_A633S exm698795 8 42275455 [A/G] NM_001257181,NM_006749,NM_001257180 SLC20A2,SLC20A2,SLC20A2 EXON Missense_R609C,Missense_R609C,Missense_R609C exm698805 8 42287696 [A/G] NM_001257181,NM_006749,NM_001257180 SLC20A2,SLC20A2,SLC20A2 EXON Missense_T532I,Missense_T532I,Missense_T532I exm698807 8 42287711 [A/G] NM_001257181,NM_006749,NM_001257180 SLC20A2,SLC20A2,SLC20A2 EXON Missense_T527M,Missense_T527M,Missense_T527M exm698815 8 42294592 [T/C] NM_001257181,NM_006749,NM_001257180 SLC20A2,SLC20A2,SLC20A2 EXON Missense_A480T,Missense_A480T,Missense_A480T exm698821 8 42294661 [T/C] NM_001257181,NM_006749,NM_001257180 SLC20A2,SLC20A2,SLC20A2 EXON Missense_A457T,Missense_A457T,Missense_A457T exm698825 8 42294832 [T/C] NM_001257181,NM_006749,NM_001257180 SLC20A2,SLC20A2,SLC20A2 EXON Missense_A400T,Missense_A400T,Missense_A400T exm698845 8 42296969 [A/G] NM_001257181,NM_006749,NM_001257180 SLC20A2,SLC20A2,SLC20A2 EXON Synonymous_Y311Y,Synonymous_Y311Y,Synonymous_Y311Y exm698846 8 42296992 [T/C] NM_001257181,NM_006749,NM_001257180 SLC20A2,SLC20A2,SLC20A2 EXON Missense_G304S,Missense_G304S,Missense_G304S exm698855 8 42297141 [T/C] NM_001257181,NM_006749,NM_001257180 SLC20A2,SLC20A2,SLC20A2 EXON Missense_R254Q,Missense_R254Q,Missense_R254Q exm698869 8 42317494 [T/C] NM_001257181,NM_006749,NM_001257180 SLC20A2,SLC20A2,SLC20A2 EXON Missense_N178S,Missense_N178S,Missense_N178S exm698879 8 42323430 [T/C] NM_001257181,NM_006749,NM_001257180 SLC20A2,SLC20A2,SLC20A2 EXON Missense_A99T,Missense_A99T,Missense_A99T exm2266729 8 42466416 [A/G] exm-rs6474412 8 42550498 [T/C] exm2173277 8 42552742 [A/G] NM_000749 CHRNB3 Silent exm698938 8 42587021 [A/G] NM_000749 CHRNB3 EXON Missense_D191N exm698942 8 42587124 [A/G] NM_000749 CHRNB3 EXON Missense_Y225C exm2173290 8 42587301 [A/G] NM_000749 CHRNB3 EXON Missense_E284G exm698950 8 42587435 [T/C] NM_000749 CHRNB3 EXON Missense_H329Y exm698957 8 42587552 [A/G] NM_000749 CHRNB3 EXON Missense_V368M exm698958 8 42587553 [T/A] NM_000749 CHRNB3 EXON Missense_V368E exm698965 8 42587665 [T/G] NM_000749 CHRNB3 EXON Missense_H405Q exm698966 8 42591633 [T/C] NM_000749 CHRNB3 EXON Nonsense_Q417X exm698968 8 42591735 [A/G] NM_000749 CHRNB3 EXON Missense_K451E exm698975 8 42608381 [T/C] NM_004198,NM_001199279 CHRNA6,CHRNA6 EXON Missense_V476I,Missense_V461I exm698978 8 42611032 [T/C] NM_004198,NM_001199279 CHRNA6,CHRNA6 EXON Missense_Q437R,Missense_Q422R exm698981 8 42611120 [T/C] NM_004198,NM_001199279 CHRNA6,CHRNA6 EXON Missense_K408E,Missense_K393E exm699002 8 42611665 [A/G] NM_004198,NM_001199279 CHRNA6,CHRNA6 EXON Missense_I226T,Missense_I211T exm699004 8 42611723 [A/C] NM_004198,NM_001199279 CHRNA6,CHRNA6 EXON Nonsense_E207X,Nonsense_E192X exm2173302 8 42611791 [T/G] NM_004198,NM_001199279 CHRNA6,CHRNA6 EXON Missense_A184D,Missense_A169D exm699019 8 42612147 [T/C] NM_004198,NM_001199279 CHRNA6,CHRNA6 EXON Missense_M100V,Missense_M85V exm699023 8 42612181 [A/C] NM_004198,NM_001199279 CHRNA6,CHRNA6 Silent,Silent exm699028 8 42614217 [A/G] NM_004198,NM_001199279 CHRNA6,CHRNA6 EXON Missense_R87C,Silent exm699035 8 42620264 [T/C] NM_004198,NM_001199279 CHRNA6,CHRNA6 EXON Missense_V55I,Missense_V55I exm699038 8 42620300 [A/G] NM_004198,NM_001199279 CHRNA6,CHRNA6 EXON Missense_S43P,Missense_S43P exm699039 8 42620320 [G/C] NM_004198,NM_001199279 CHRNA6,CHRNA6 EXON Missense_R36T,Missense_R36T exm699040 8 42620347 [T/C] NM_004198,NM_001199279 CHRNA6,CHRNA6 EXON Missense_G27D,Missense_G27D exm699041 8 42623496 [T/A] NM_004198,NM_001199279 CHRNA6,CHRNA6 EXON Missense_K26N,Missense_K26N exm699045 8 42693157 [T/C] NM_018105,NM_199003 THAP1,THAP1 EXON Missense_G197D,Silent exm699053 8 42693326 [T/C] NM_018105,NM_199003 THAP1,THAP1 EXON Missense_D141N,Silent exm699069 8 42706014 [T/C] NM_001160224 RNF170 EXON Missense_D175N exm699080 8 42711517 [T/C] NM_001160224,NM_001160223,NR_027668,NR_027669,NM_030954,NM_001160225 RNF170,RNF170,RNF170,RNF170,RNF170,RNF170 EXON Silent,Missense_M188V,Silent,Silent,Missense_M188V,Missense_M104V exm699086 8 42720581 [T/C] NM_001160224,NM_001160223,NR_027668,NR_027669,NM_030954,NM_001160225 RNF170,RNF170,RNF170,RNF170,RNF170,RNF170 EXON Missense_S125N,Missense_S125N,Silent,Silent,Missense_S125N,Missense_S41N exm699095 8 42742895 [A/G] NM_001160224,NM_001160223,NR_027668,NR_027669,NM_030954,NM_001160225 RNF170,RNF170,RNF170,RNF170,RNF170,RNF170 EXON Missense_A38V,Missense_A38V,Silent,Silent,Missense_A38V,Silent exm699107 8 42780710 [T/C] NM_032410 HOOK3 EXON Missense_Y52H exm699129 8 42823322 [A/G] NM_032410 HOOK3 EXON Missense_A363T exm2173360 8 42837779 [T/C] NM_032410 HOOK3 EXON Missense_P444L exm699137 8 42837808 [A/C] NM_032410 HOOK3 EXON Missense_L454I exm699142 8 42841856 [T/G] NM_032410 HOOK3 EXON Missense_S484A exm699175 8 42914288 [A/G] NR_033698,NM_002027 FNTA,FNTA EXON Silent,Missense_N85S exm699181 8 42919308 [T/G] NR_033698,NM_002027 FNTA,FNTA EXON Silent,Missense_F117L exm699209 8 42939989 [A/G] NR_033698,NM_002027 FNTA,FNTA EXON Silent,Missense_D328N exm699214 8 42958701 [T/C] NM_032237 SGK196 EXON Nonsense_Q4X exm699215 8 42958711 [A/G] NM_032237 SGK196 EXON Missense_N7S exm2274310 8 42958833 [T/C] NM_032237 SGK196 EXON Missense_S48P exm699229 8 42958948 [A/G] NM_032237 SGK196 EXON Missense_R86H exm699235 8 42977340 [T/A] NM_032237 SGK196 EXON Missense_M125L exm699243 8 42977532 [A/G] NM_032237 SGK196 EXON Missense_I189V exm2173389 8 42977566 [A/G] NM_032237 SGK196 EXON Missense_R200Q exm699255 8 42977727 [A/G] NM_032237 SGK196 EXON Missense_V254M exm699261 8 42977853 [A/G] NM_032237 SGK196 EXON Missense_I296V exm699262 8 42977869 [T/C] NM_032237 SGK196 EXON Missense_M301T exm2246958 8 42977877 [T/C] NM_032237 SGK196 EXON Missense_F304L exm699266 8 42977973 [A/G] NM_032237 SGK196 EXON Missense_D336N exm699267 8 42977980 [T/G] NM_032237 SGK196 EXON Missense_L338R exm2173396 8 43002177 [A/G] NM_152419 HGSNAT EXON Missense_V69I exm699281 8 43024371 [T/C] NM_152419 HGSNAT EXON Missense_R207C exm699282 8 43025774 [A/T] NM_152419 HGSNAT EXON Missense_Q227L exm699306 8 43046725 [T/C] NM_152419 HGSNAT EXON Missense_P413S exm699308 8 43046738 [T/C] NM_152419 HGSNAT EXON Missense_T417I exm699319 8 43052839 [A/C] NM_152419 HGSNAT EXON Missense_K523Q exm699322 8 43053000 [T/C] NM_152419 HGSNAT EXON Missense_T544I exm699329 8 43053062 [C/G] NM_152419 HGSNAT EXON Missense_G565R exm699332 8 43054553 [T/C] NM_152419 HGSNAT EXON Synonymous_Y583Y exm2258871 8 43054553 [T/C] NM_152419 HGSNAT EXON Synonymous_Y583Y exm699335 8 43054563 [A/G] NM_152419 HGSNAT EXON Missense_E587K exm699338 8 43054644 [A/G] NM_152419 HGSNAT EXON Missense_V614I exm699339 8 43054647 [A/G] NM_152419 HGSNAT EXON Missense_A615T exm2246961 8 43054675 [A/G] NM_152419 HGSNAT EXON Missense_Y624C exm699353 8 43152162 [C/G] NM_001002920,NM_001005365 POTEA,POTEA Silent,Silent exm699360 8 43152442 [A/G] NM_001002920,NM_001005365 POTEA,POTEA EXON Missense_Q143R,Missense_Q143R exm699362 8 43152478 [A/G] NM_001002920,NM_001005365 POTEA,POTEA EXON Missense_G155D,Missense_G155D exm699372 8 43155706 [T/C] NM_001002920,NM_001005365 POTEA,POTEA EXON Nonsense_R212X,Nonsense_R212X exm699379 8 43157139 [A/G] NM_001002920,NM_001005365 POTEA,POTEA EXON Silent,Missense_R240H exm699383 8 43171055 [A/C] NM_001002920,NM_001005365 POTEA,POTEA EXON Nonsense_S263X,Nonsense_S309X exm699389 8 43172532 [G/C] NM_001002920,NM_001005365 POTEA,POTEA EXON Missense_C291W,Missense_C337W exm699399 8 43173701 [A/C] NM_001002920,NM_001005365 POTEA,POTEA EXON Missense_Q329K,Missense_Q375K exm699416 8 43197438 [A/T] NM_001002920,NM_001005365 POTEA,POTEA EXON Missense_L397M,Missense_L443M exm699423 8 43211994 [G/C] NM_001002920,NM_001005365 POTEA,POTEA EXON Missense_E439Q,Missense_E485Q exm2262487 8 43383815 [T/C] exm2264289 8 43414155 [A/C] exm2266730 8 47800155 [A/G] exm2266615 8 48089751 [A/G] exm699443 8 48192585 [C/G] NM_001080394 KIAA0146 EXON Missense_Q57E exm699450 8 48308973 [A/G] NM_001080394 KIAA0146 EXON Missense_S188N exm699456 8 48309185 [A/C] NM_001080394 KIAA0146 EXON Synonymous_R259R exm699480 8 48511602 [T/A] NM_001080394 KIAA0146 EXON Missense_D463V exm2246966 8 48511670 [A/G] NM_001080394 KIAA0146 EXON Missense_V486M exm2246967 8 48511747 [A/G] NM_001080394 KIAA0146 EXON Synonymous_P511P exm2173517 8 48625353 [A/G] NM_001080394 KIAA0146 EXON Missense_V703M exm699514 8 48625376 [T/G] NM_001080394 KIAA0146 EXON Missense_E710D exm699521 8 48626132 [A/G] NM_001080394 KIAA0146 EXON Missense_E757G exm699526 8 48626171 [T/C] NM_001080394 KIAA0146 EXON Missense_A770V exm699530 8 48639846 [T/C] NM_001080394 KIAA0146 EXON Missense_P809L exm699541 8 48647951 [C/G] NM_001080394 KIAA0146 EXON Missense_S896T exm699561 8 48650500 [T/G] NM_005195 CEBPD EXON Missense_F61L exm699562 8 48650520 [T/C] NM_005195 CEBPD EXON Missense_D55N exm699574 8 48690299 [A/G] NM_001081640,NM_006904 PRKDC,PRKDC EXON Missense_C3966R,Missense_C3997R exm699576 8 48690359 [A/G] NM_001081640,NM_006904 PRKDC,PRKDC EXON Missense_R3946W,Missense_R3977W exm699583 8 48691068 [A/G] NM_001081640,NM_006904 PRKDC,PRKDC EXON Missense_A3904V,Missense_A3935V exm699593 8 48691357 [A/G] NM_001081640,NM_006904 PRKDC,PRKDC EXON Missense_A3830V,Missense_A3861V exm699605 8 48695013 [A/G] NM_001081640,NM_006904 PRKDC,PRKDC EXON Missense_S3774F,Missense_S3774F exm699615 8 48696360 [A/G] NM_001081640,NM_006904 PRKDC,PRKDC EXON Missense_T3706M,Missense_T3706M exm699616 8 48697675 [A/G] NM_001081640,NM_006904 PRKDC,PRKDC EXON Missense_P3702L,Missense_P3702L exm699617 8 48697705 [T/C] NM_001081640,NM_006904 PRKDC,PRKDC EXON Nonsense_W3692X,Nonsense_W3692X exm699618 8 48697733 [T/C] NM_001081640,NM_006904 PRKDC,PRKDC EXON Missense_V3683I,Missense_V3683I exm699627 8 48701596 [A/G] NM_001081640,NM_006904 PRKDC,PRKDC EXON Missense_M3591T,Missense_M3591T exm699630 8 48701786 [A/T] NM_001081640,NM_006904 PRKDC,PRKDC EXON Missense_S3561R,Missense_S3561R exm699632 8 48706895 [A/G] NM_001081640,NM_006904 PRKDC,PRKDC EXON Missense_S3542L,Missense_S3542L exm699639 8 48710880 [T/C] NM_001081640,NM_006904 PRKDC,PRKDC EXON Missense_M3459V,Missense_M3459V exm699646 8 48711857 [T/C] NM_001081640,NM_006904 PRKDC,PRKDC EXON Missense_G3404S,Missense_G3404S exm699655 8 48713537 [A/G] NM_001081640,NM_006904 PRKDC,PRKDC EXON Missense_T3311M,Missense_T3311M exm699660 8 48716037 [T/C] NM_001081640,NM_006904 PRKDC,PRKDC EXON Missense_I3251V,Missense_I3251V exm699665 8 48719852 [G/C] NM_001081640,NM_006904 PRKDC,PRKDC EXON Missense_P3198A,Missense_P3198A exm699682 8 48734205 [A/G] NM_001081640,NM_006904 PRKDC,PRKDC EXON Missense_P3024S,Missense_P3024S exm699689 8 48736557 [T/C] NM_001081640,NM_006904 PRKDC,PRKDC EXON Missense_S2928N,Missense_S2928N exm699693 8 48739339 [A/G] NM_001081640,NM_006904 PRKDC,PRKDC EXON Missense_P2887L,Missense_P2887L exm699695 8 48740784 [T/C] NM_001081640,NM_006904 PRKDC,PRKDC EXON Missense_I2841V,Missense_I2841V exm699708 8 48746905 [A/G] NM_001081640,NM_006904 PRKDC,PRKDC EXON Missense_S2668L,Missense_S2668L exm699709 8 48746949 [T/G] NM_001081640,NM_006904 PRKDC,PRKDC EXON Missense_E2653D,Missense_E2653D exm699725 8 48749887 [T/C] NM_001081640,NM_006904 PRKDC,PRKDC EXON Missense_R2549K,Missense_R2549K exm2246969 8 48749953 [A/G] NM_001081640,NM_006904 PRKDC,PRKDC EXON Missense_M2527T,Missense_M2527T exm699729 8 48751730 [A/G] NM_001081640,NM_006904 PRKDC,PRKDC EXON Missense_S2511P,Missense_S2511P exm699742 8 48762033 [A/G] NM_001081640,NM_006904 PRKDC,PRKDC EXON Nonsense_R2346X,Nonsense_R2346X exm699743 8 48765288 [A/G] NM_001081640,NM_006904 PRKDC,PRKDC EXON Missense_P2317L,Missense_P2317L exm699760 8 48769846 [A/G] NM_001081640,NM_006904 PRKDC,PRKDC EXON Missense_T2160M,Missense_T2160M exm699765 8 48771187 [C/G] NM_001081640,NM_006904 PRKDC,PRKDC EXON Missense_C2118W,Missense_C2118W exm699766 8 48771194 [A/G] NM_001081640,NM_006904 PRKDC,PRKDC EXON Missense_I2116T,Missense_I2116T exm699767 8 48771413 [T/C] NM_001081640,NM_006904 PRKDC,PRKDC EXON Missense_K2114R,Missense_K2114R exm2173591 8 48771430 [T/C] NM_001081640,NM_006904 PRKDC,PRKDC EXON Nonsense_W2108X,Nonsense_W2108X exm699770 8 48771462 [A/G] NM_001081640,NM_006904 PRKDC,PRKDC EXON Missense_R2098W,Missense_R2098W exm699775 8 48772173 [T/C] NM_001081640,NM_006904 PRKDC,PRKDC EXON Missense_G2069R,Missense_G2069R exm699782 8 48774651 [T/C] NM_001081640,NM_006904 PRKDC,PRKDC EXON Missense_A1986T,Missense_A1986T exm699786 8 48775016 [T/C] NM_001081640,NM_006904 PRKDC,PRKDC EXON Missense_T1946A,Missense_T1946A exm699789 8 48775099 [T/C] NM_001081640,NM_006904 PRKDC,PRKDC EXON Missense_C1918Y,Missense_C1918Y exm699790 8 48776001 [T/C] NM_001081640,NM_006904 PRKDC,PRKDC EXON Missense_R1903H,Missense_R1903H exm699791 8 48776016 [T/C] NM_001081640,NM_006904 PRKDC,PRKDC EXON Missense_K1898R,Missense_K1898R exm699806 8 48792167 [T/A] NM_001081640,NM_006904 PRKDC,PRKDC EXON Missense_W1707R,Missense_W1707R exm699809 8 48792199 [A/C] NM_001081640,NM_006904 PRKDC,PRKDC EXON Missense_F1696C,Missense_F1696C exm699810 8 48792208 [C/G] NM_001081640,NM_006904 PRKDC,PRKDC EXON Nonsense_S1693X,Nonsense_S1693X exm699816 8 48794626 [A/C] NM_001081640,NM_006904 PRKDC,PRKDC EXON Missense_R1603I,Missense_R1603I exm2246971 8 48801718 [A/G] NM_001081640,NM_006904 PRKDC,PRKDC EXON Missense_P1379L,Missense_P1379L exm699854 8 48801731 [A/G] NM_001081640,NM_006904 PRKDC,PRKDC EXON Missense_R1375C,Missense_R1375C exm699871 8 48805788 [T/C] NM_001081640,NM_006904 PRKDC,PRKDC EXON Missense_R1253H,Missense_R1253H exm699888 8 48815186 [T/C] NM_001081640,NM_006904 PRKDC,PRKDC EXON Missense_N1071S,Missense_N1071S exm699890 8 48815297 [T/C] NM_001081640,NM_006904 PRKDC,PRKDC EXON Missense_R1034Q,Missense_R1034Q exm699897 8 48817516 [G/C] NM_001081640,NM_006904 PRKDC,PRKDC EXON Missense_E985D,Missense_E985D exm699905 8 48826575 [C/G] NM_001081640,NM_006904 PRKDC,PRKDC EXON Missense_E889D,Missense_E889D exm699912 8 48840360 [T/C] NM_001081640,NM_006904 PRKDC,PRKDC EXON Missense_D744N,Missense_D744N exm699916 8 48841708 [A/G] NM_001081640,NM_006904 PRKDC,PRKDC EXON Missense_P695S,Missense_P695S exm699918 8 48842425 [T/C] NM_001081640,NM_006904 PRKDC,PRKDC EXON Missense_I680M,Missense_I680M exm699925 8 48843310 [C/G] NM_001081640,NM_006904 PRKDC,PRKDC EXON Missense_T605S,Missense_T605S exm699951 8 48848401 [T/G] NM_001081640,NM_006904 PRKDC,PRKDC EXON Missense_F446L,Missense_F446L exm699958 8 48848992 [C/G] NM_001081640,NM_006904 PRKDC,PRKDC EXON Missense_T400R,Missense_T400R exm699964 8 48852225 [T/C] NM_001081640,NM_006904 PRKDC,PRKDC EXON Missense_M333I,Missense_M333I exm699973 8 48856547 [A/G] NM_001081640,NM_006904 PRKDC,PRKDC EXON Missense_A255V,Missense_A255V exm699980 8 48866984 [G/C] NM_001081640,NM_006904 PRKDC,PRKDC EXON Missense_S141C,Missense_S141C exm699990 8 48872671 [A/C] NM_001081640,NM_006904 PRKDC,PRKDC EXON Missense_A6S,Missense_A6S exm700016 8 48874952 [A/G] NM_005914,NM_182746 MCM4,MCM4 EXON Missense_K163E,Missense_K163E exm700026 8 48877161 [A/G] NM_005914,NM_182746 MCM4,MCM4 EXON Missense_V241I,Missense_V241I exm2173668 8 48877183 [A/G] NM_005914,NM_182746 MCM4,MCM4 EXON Missense_R248H,Missense_R248H exm700027 8 48877227 [T/C] NM_005914,NM_182746 MCM4,MCM4 EXON Missense_F263L,Missense_F263L exm700029 8 48878747 [A/G] NM_005914,NM_182746 MCM4,MCM4 EXON Missense_D278G,Missense_D278G exm700030 8 48878762 [T/C] NM_005914,NM_182746 MCM4,MCM4 EXON Missense_I283T,Missense_I283T exm2173672 8 48878778 [A/G] NM_005914,NM_182746 MCM4,MCM4 EXON Missense_M288I,Missense_M288I exm700033 8 48878813 [A/G] NM_005914,NM_182746 MCM4,MCM4 EXON Missense_Q300R,Missense_Q300R exm700037 8 48878875 [T/C] NM_005914,NM_182746 MCM4,MCM4 EXON Missense_R321C,Missense_R321C exm2258879 8 48878898 [T/C] NM_005914,NM_182746 MCM4,MCM4 EXON Synonymous_C328C,Synonymous_C328C exm700061 8 48882561 [A/G] NM_005914,NM_182746 MCM4,MCM4 EXON Missense_E460K,Missense_E460K exm700062 8 48882589 [C/G] NM_005914,NM_182746 MCM4,MCM4 EXON Missense_S469T,Missense_S469T exm700069 8 48883234 [T/C] NM_005914,NM_182746 MCM4,MCM4 EXON Missense_T533M,Missense_T533M exm2258880 8 48883295 [A/G] NM_005914,NM_182746 MCM4,MCM4 EXON Synonymous_T553T,Synonymous_T553T exm700078 8 48883929 [A/G] NM_005914,NM_182746 MCM4,MCM4 EXON Missense_R610H,Missense_R610H exm700084 8 48885436 [T/A] NM_005914,NM_182746 MCM4,MCM4 EXON Missense_L650M,Missense_L650M exm700090 8 48885469 [T/C] NM_005914,NM_182746 MCM4,MCM4 EXON Missense_R661C,Missense_R661C exm700093 8 48885539 [T/C] NM_005914,NM_182746 MCM4,MCM4 EXON Missense_M684T,Missense_M684T exm700098 8 48885590 [A/G] NM_005914,NM_182746 MCM4,MCM4 EXON Missense_R701Q,Missense_R701Q exm700107 8 48887414 [C/G] NM_005914,NM_182746 MCM4,MCM4 EXON Missense_V753L,Missense_V753L exm700115 8 48887523 [A/G] NM_005914,NM_182746 MCM4,MCM4 Silent,Silent exm700120 8 48888373 [T/C] NM_005914,NM_182746 MCM4,MCM4 EXON Nonsense_Q822X,Nonsense_Q822X exm700124 8 48889280 [A/G] NM_005914,NM_182746 MCM4,MCM4 EXON Missense_R845H,Missense_R845H exm700125 8 48889282 [A/G] NM_005914,NM_182746 MCM4,MCM4 EXON Missense_A846T,Missense_A846T exm700138 8 48955652 [A/G] NM_003350 UBE2V2 EXON Missense_V26I exm2262492 8 49031831 [T/C] exm-rs11778329 8 49053165 [T/C] exm2270854 8 49589181 [T/C] exm700166 8 49637360 [T/A] NM_001142857,NM_024593,NR_024605 EFCAB1,EFCAB1,EFCAB1 EXON Missense_S141C,Missense_S193C,Silent exm700175 8 49642398 [T/C] NM_001142857,NM_024593,NR_024605 EFCAB1,EFCAB1,EFCAB1 EXON Missense_G66R,Missense_G118R,Silent exm700181 8 49643106 [T/G] NM_001142857,NM_024593,NR_024605 EFCAB1,EFCAB1,EFCAB1 EXON Missense_K52N,Missense_K104N,Silent exm700188 8 49643960 [T/C] NM_001142857,NM_024593,NR_024605 EFCAB1,EFCAB1,EFCAB1 EXON Silent,Missense_R54Q,Silent exm2262493 8 49753613 [A/C] exm-rs12155623 8 49812201 [T/A] exm2173719 8 49832715 [A/G] NM_003068 SNAI2 EXON Missense_A122V exm700217 8 49832934 [T/C] NM_003068 SNAI2 EXON Missense_S49N exm700232 8 49986690 [A/G] NM_001256596,NM_001256598,NM_001256597,NM_001007176 C8orf22,C8orf22,C8orf22,C8orf22 EXON Missense_Q43R,Missense_Q43R,Missense_Q43R,Missense_Q43R exm2173730 8 49986858 [A/T] NM_001256596,NM_001256598,NM_001256597,NM_001007176 C8orf22,C8orf22,C8orf22,C8orf22 EXON Missense_S67T,Missense_S67T,Missense_S67T,Missense_S67T exm700234 8 49987801 [A/G] NM_001256596,NM_001256598,NM_001256597,NM_001007176 C8orf22,C8orf22,C8orf22,C8orf22 EXON Silent,Silent,Silent,Missense_S81G exm-rs10448011 8 50010896 [A/C] exm2266617 8 50412162 [A/G] exm2270968 8 50808334 [T/C] exm2266618 8 51287482 [A/G] NM_018967 SNTG1 Silent exm700249 8 51314818 [A/C] NM_018967 SNTG1 EXON Missense_K26Q exm700251 8 51314877 [T/G] NM_018967 SNTG1 EXON Missense_C45W exm700252 8 51314904 [T/C] NM_018967 SNTG1 EXON Synonymous_G54G exm700258 8 51362258 [A/G] NM_018967 SNTG1 EXON Missense_V84I exm700264 8 51363287 [C/G] NM_018967 SNTG1 EXON Missense_V121L exm-rs310558 8 51412591 [T/C] NM_018967 SNTG1 Silent exm700266 8 51415351 [A/G] NM_018967 SNTG1 EXON Missense_R126Q exm700267 8 51415377 [A/G] NM_018967 SNTG1 EXON Missense_T135A exm700268 8 51415396 [C/G] NM_018967 SNTG1 EXON Missense_R141T exm700283 8 51465651 [C/G] NM_018967 SNTG1 EXON Missense_T241S exm2246981 8 51465681 [A/C] NM_018967 SNTG1 EXON Missense_D251A exm700286 8 51465733 [C/G] NM_018967 SNTG1 EXON Missense_K268N exm2270969 8 51543713 [T/C] NM_018967 SNTG1 Silent exm700295 8 51569585 [A/G] NM_018967 SNTG1 EXON Synonymous_P322P exm700304 8 51617256 [A/G] NM_018967 SNTG1 EXON Missense_A379T exm700310 8 51621492 [A/C] NM_018967 SNTG1 EXON Missense_T413K exm2266619 8 52029240 [A/G] exm-rs7821565 8 52216762 [T/C] exm700323 8 52232487 [T/G] NM_144651 PXDNL EXON Missense_D1452E exm2246984 8 52232509 [A/G] NM_144651 PXDNL EXON Missense_T1445I exm700324 8 52232512 [T/C] NM_144651 PXDNL EXON Missense_G1444E exm700326 8 52232578 [A/C] NM_144651 PXDNL EXON Missense_G1422V exm2173787 8 52233381 [C/G] NM_144651 PXDNL EXON Missense_R1408P exm700330 8 52233408 [T/C] NM_144651 PXDNL EXON Missense_R1399K exm700335 8 52252305 [T/G] NM_144651 PXDNL EXON Missense_D1342A exm700344 8 52284560 [T/A] NM_144651 PXDNL EXON Nonsense_C1258X exm700347 8 52284609 [A/G] NM_144651 PXDNL EXON Missense_P1242L exm700351 8 52287175 [T/C] NM_144651 PXDNL EXON Missense_R1225Q exm700355 8 52287230 [A/G] NM_144651 PXDNL EXON Missense_P1207S exm700359 8 52287283 [T/C] NM_144651 PXDNL EXON Missense_G1189D exm700362 8 52320640 [C/G] NM_144651 PXDNL EXON Missense_Q1182E exm700363 8 52320642 [A/C] NM_144651 PXDNL EXON Missense_R1181I exm700364 8 52320657 [T/G] NM_144651 PXDNL EXON Missense_K1176T exm700365 8 52320669 [A/T] NM_144651 PXDNL EXON Missense_Q1172L exm700367 8 52320716 [T/G] NM_144651 PXDNL EXON Missense_F1156L exm700370 8 52320786 [A/G] NM_144651 PXDNL EXON Missense_A1133V exm700373 8 52320832 [G/C] NM_144651 PXDNL EXON Missense_L1118V exm700376 8 52320858 [A/G] NM_144651 PXDNL EXON Missense_A1109V exm700383 8 52321068 [T/C] NM_144651 PXDNL EXON Missense_N1039S exm2246985 8 52321131 [A/T] NM_144651 PXDNL EXON Missense_L1018Q exm700391 8 52321243 [T/C] NM_144651 PXDNL EXON Missense_M981V exm700400 8 52321470 [T/C] NM_144651 PXDNL EXON Missense_R905Q exm700412 8 52321642 [A/G] NM_144651 PXDNL EXON Missense_R848W exm700414 8 52321686 [T/C] NM_144651 PXDNL EXON Missense_S833N exm2173815 8 52321722 [A/C] NM_144651 PXDNL EXON Missense_L821R exm700415 8 52321728 [C/G] NM_144651 PXDNL EXON Missense_P819R exm700424 8 52321966 [A/G] NM_144651 PXDNL EXON Missense_P740S exm700431 8 52322110 [T/C] NM_144651 PXDNL EXON Missense_N692D exm700435 8 52323869 [A/G] NM_144651 PXDNL EXON Missense_T668M exm2274311 8 52323870 [T/C] NM_144651 PXDNL EXON Missense_T668A exm700436 8 52323908 [A/G] NM_144651 PXDNL EXON Missense_I655T exm700442 8 52325731 [A/G] NM_144651 PXDNL EXON Missense_T628I exm700444 8 52325767 [T/G] NM_144651 PXDNL EXON Missense_D616A exm700450 8 52336137 [A/G] NM_144651 PXDNL EXON Missense_T598M exm700453 8 52336182 [T/C] NM_144651 PXDNL EXON Missense_R583Q exm700456 8 52336225 [T/C] NM_144651 PXDNL EXON Missense_D569N exm700459 8 52336255 [A/C] NM_144651 PXDNL EXON Missense_V559L exm700460 8 52339232 [G/C] NM_144651 PXDNL EXON Missense_P538A exm700467 8 52359656 [A/G] NM_144651 PXDNL EXON Missense_A478V exm2246989 8 52359659 [T/C] NM_144651 PXDNL EXON Missense_R477H exm700469 8 52359719 [A/C] NM_144651 PXDNL EXON Missense_G457V exm700475 8 52361627 [T/C] NM_144651 PXDNL EXON Missense_H434R exm700477 8 52361678 [A/G] NM_144651 PXDNL EXON Missense_A417V exm700478 8 52366115 [T/C] NM_144651 PXDNL EXON Missense_G405S exm700482 8 52366156 [T/C] NM_144651 PXDNL EXON Missense_R391Q exm700483 8 52366157 [A/G] NM_144651 PXDNL EXON Missense_R391W exm700485 8 52366187 [T/G] NM_144651 PXDNL EXON Missense_S381R exm700489 8 52366300 [A/G] NM_144651 PXDNL EXON Missense_I343T exm700497 8 52370109 [T/C] NM_144651 PXDNL EXON Missense_A311T exm700498 8 52370163 [A/G] NM_144651 PXDNL EXON Nonsense_R293X exm700501 8 52384792 [T/C] NM_144651 PXDNL EXON Missense_R256Q exm700508 8 52387593 [A/T] NM_144651 PXDNL EXON Missense_E211D exm700509 8 52387619 [A/G] NM_144651 PXDNL EXON Missense_H203Y exm700512 8 52387699 [T/C] NM_144651 PXDNL EXON Missense_R176H exm700513 8 52387700 [A/G] NM_144651 PXDNL EXON Missense_R176C exm700527 8 52505214 [A/G] NM_144651 PXDNL EXON Missense_F94S exm2258889 8 52529097 [A/G] NM_144651 PXDNL Silent exm700529 8 52567282 [A/C] NM_144651 PXDNL EXON Missense_S68I exm700539 8 52721859 [T/C] NM_144651 PXDNL EXON Missense_G16R exm700555 8 52733017 [C/G] NM_052937 PCMTD1 EXON Missense_A323G exm700557 8 52733029 [T/C] NM_052937 PCMTD1 EXON Missense_D319G exm700558 8 52733030 [A/C] NM_052937 PCMTD1 EXON Missense_D319Y exm700589 8 52733242 [T/C] NM_052937 PCMTD1 EXON Missense_R248H exm2266731 8 52757270 [A/G] NM_052937 PCMTD1 Silent exm2264291 8 52951973 [A/C] exm700607 8 53025889 [T/C] NM_014682 ST18 EXON Missense_S1005G exm700612 8 53030923 [T/G] NM_014682 ST18 EXON Missense_A945E exm700616 8 53044521 [T/C] NM_014682 ST18 EXON Missense_R888Q exm700623 8 53044681 [A/G] NM_014682 ST18 EXON Missense_R835C exm700627 8 53044738 [A/G] NM_014682 ST18 EXON Missense_C816R exm700632 8 53045680 [T/C] NM_014682 ST18 EXON Missense_R794H exm2258891 8 53045819 [T/C] NM_014682 ST18 EXON Synonymous_G781G exm2274312 8 53062366 [A/G] NM_014682 ST18 EXON Missense_L660F exm2173911 8 53062395 [A/G] NM_014682 ST18 EXON Missense_I650T exm700646 8 53062405 [T/C] NM_014682 ST18 EXON Missense_T647A exm700660 8 53071574 [T/C] NM_014682 ST18 EXON Missense_G564S exm700661 8 53071594 [T/C] NM_014682 ST18 EXON Missense_R557H exm700663 8 53071616 [T/C] NM_014682 ST18 EXON Missense_A550T exm700668 8 53073986 [A/G] NM_014682 ST18 EXON Missense_R515C exm700684 8 53076592 [T/G] NM_014682 ST18 EXON Missense_Q452K exm700686 8 53077749 [A/G] NM_014682 ST18 EXON Missense_T414M exm700687 8 53079427 [A/G] NM_014682 ST18 EXON Missense_R397W exm700691 8 53084352 [A/G] NM_014682 ST18 EXON Missense_H357Y exm700692 8 53084357 [T/C] NM_014682 ST18 EXON Missense_N355S exm700702 8 53084540 [T/C] NM_014682 ST18 EXON Missense_S294N exm700706 8 53084609 [A/G] NM_014682 ST18 EXON Missense_A271V exm700712 8 53084778 [A/G] NM_014682 ST18 EXON Missense_P215S exm700713 8 53084799 [T/G] NM_014682 ST18 EXON Missense_N208H exm700722 8 53085002 [A/G] NM_014682 ST18 EXON Missense_V140A exm700728 8 53092685 [T/C] NM_014682 ST18 EXON Missense_A92T exm2262498 8 53291161 [T/C] NM_014682 ST18 Silent exm2264292 8 53387502 [A/C] exm700766 8 53477798 [G/C] NM_207413 FAM150A EXON Missense_G7R exm2258892 8 53536363 [T/C] NM_014781,NM_001083617 RB1CC1,RB1CC1 EXON Synonymous_V1588V,Synonymous_V1585V exm700783 8 53540688 [A/G] NM_014781,NM_001083617 RB1CC1,RB1CC1 EXON Missense_R1514C,Missense_R1514C exm700795 8 53548616 [T/C] NM_014781,NM_001083617 RB1CC1,RB1CC1 EXON Missense_M1451V,Missense_M1451V exm700812 8 53555338 [A/G] NM_014781,NM_001083617 RB1CC1,RB1CC1 EXON Missense_M1341T,Missense_M1341T exm700818 8 53558298 [T/C] NM_014781,NM_001083617 RB1CC1,RB1CC1 EXON Missense_M1317I,Missense_M1317I exm700819 8 53558307 [T/A] NM_014781,NM_001083617 RB1CC1,RB1CC1 EXON Missense_N1314K,Missense_N1314K exm700824 8 53568656 [A/C] NM_014781,NM_001083617 RB1CC1,RB1CC1 EXON Missense_A1245S,Missense_A1245S exm700833 8 53568905 [A/G] NM_014781,NM_001083617 RB1CC1,RB1CC1 EXON Missense_H1162Y,Missense_H1162Y exm700843 8 53569256 [T/C] NM_014781,NM_001083617 RB1CC1,RB1CC1 EXON Missense_E1045K,Missense_E1045K exm700864 8 53569868 [T/C] NM_014781,NM_001083617 RB1CC1,RB1CC1 EXON Missense_A841T,Missense_A841T exm700868 8 53569975 [A/G] NM_014781,NM_001083617 RB1CC1,RB1CC1 EXON Missense_A805V,Missense_A805V exm700878 8 53570168 [T/C] NM_014781,NM_001083617 RB1CC1,RB1CC1 EXON Missense_I741V,Missense_I741V exm2275232 8 53571536 [T/C] NM_014781,NM_001083617 RB1CC1,RB1CC1 EXON Missense_T564A,Missense_T564A exm700901 8 53573779 [T/C] NM_014781,NM_001083617 RB1CC1,RB1CC1 EXON Missense_R474H,Missense_R474H exm700916 8 53580703 [T/C] NM_014781,NM_001083617 RB1CC1,RB1CC1 EXON Missense_I351V,Missense_I351V exm700924 8 53586529 [A/G] NM_014781,NM_001083617 RB1CC1,RB1CC1 EXON Missense_T293M,Missense_T293M exm700925 8 53586530 [T/C] NM_014781,NM_001083617 RB1CC1,RB1CC1 EXON Missense_T293A,Missense_T293A exm700933 8 53586706 [A/G] NM_014781,NM_001083617 RB1CC1,RB1CC1 EXON Missense_M234T,Missense_M234T exm700934 8 53586746 [T/C] NM_014781,NM_001083617 RB1CC1,RB1CC1 EXON Missense_D221N,Missense_D221N exm700946 8 53596180 [T/C] NM_014781,NM_001083617 RB1CC1,RB1CC1 EXON Missense_I100V,Missense_I100V exm700951 8 53596481 [A/G] NM_014781,NM_001083617 RB1CC1,RB1CC1 EXON Missense_A55V,Missense_A55V exm2258894 8 53796903 [T/C] exm700965 8 53852583 [T/C] NM_005285 NPBWR1 EXON Missense_A39V exm700966 8 53852607 [T/C] NM_005285 NPBWR1 EXON Missense_I47T exm700968 8 53852773 [A/G] NM_005285 NPBWR1 EXON Nonsense_W102X exm700971 8 53852831 [T/C] NM_005285 NPBWR1 EXON Missense_S122P exm700974 8 53852871 [A/T] NM_005285 NPBWR1 EXON Missense_Y135F exm700996 8 53853329 [A/G] NM_005285 NPBWR1 EXON Missense_I288V exm700999 8 53853422 [T/C] NM_005285 NPBWR1 EXON Missense_R319C exm701000 8 53853440 [C/G] NM_005285 NPBWR1 EXON Missense_R325G exm701013 8 54142084 [T/G] NM_000912 OPRK1 EXON Missense_T306P exm701021 8 54142213 [A/G] NM_000912 OPRK1 EXON Nonsense_R263X exm701025 8 54142245 [T/C] NM_000912 OPRK1 EXON Missense_R252H exm701030 8 54147331 [T/C] NM_000912 OPRK1 EXON Missense_K200E exm701034 8 54147421 [A/G] NM_000912 OPRK1 EXON Missense_R170C exm701039 8 54147531 [A/G] NM_000912 OPRK1 EXON Missense_I133T exm2270858 8 54340446 [T/G] exm-rs10958369 8 54410208 [A/G] exm2262499 8 54431866 [A/C] exm2266621 8 54559770 [A/G] exm701068 8 54682194 [A/T] NM_213620,NM_015941,NM_213619 ATP6V1H,ATP6V1H,ATP6V1H EXON Missense_N387Y,Missense_N387Y,Missense_N369Y exm701069 8 54682195 [A/C] NM_213620,NM_015941,NM_213619 ATP6V1H,ATP6V1H,ATP6V1H EXON Missense_K386N,Missense_K386N,Missense_K368N exm701071 8 54682303 [A/G] NM_213620,NM_015941,NM_213619 ATP6V1H,ATP6V1H,ATP6V1H EXON Synonymous_S350S,Synonymous_S350S,Synonymous_S332S exm2262500 8 54701811 [T/C] NM_213620,NM_015941,NM_213619 ATP6V1H,ATP6V1H,ATP6V1H Silent,Silent,Silent exm701078 8 54708292 [T/C] NM_213620,NM_015941,NM_213619 ATP6V1H,ATP6V1H,ATP6V1H EXON Missense_R262H,Missense_R262H,Missense_R244H exm701080 8 54708302 [A/G] NM_213620,NM_015941,NM_213619 ATP6V1H,ATP6V1H,ATP6V1H EXON Missense_H259Y,Missense_H259Y,Missense_H241Y exm701089 8 54723762 [T/C] NM_213620,NM_015941,NM_213619 ATP6V1H,ATP6V1H,ATP6V1H EXON Missense_G181S,Missense_G181S,Silent exm701099 8 54727289 [T/C] NM_213620,NM_015941,NM_213619 ATP6V1H,ATP6V1H,ATP6V1H EXON Missense_K153R,Missense_K153R,Missense_K153R exm701104 8 54742024 [T/C] NM_213620,NM_015941,NM_213619 ATP6V1H,ATP6V1H,ATP6V1H EXON Missense_M96V,Missense_M96V,Missense_M96V exm701107 8 54742078 [T/C] NM_213620,NM_015941,NM_213619 ATP6V1H,ATP6V1H,ATP6V1H EXON Missense_I78V,Missense_I78V,Missense_I78V exm701117 8 54754208 [G/C] NM_213620,NM_015941,NM_213619 ATP6V1H,ATP6V1H,ATP6V1H EXON Missense_P15A,Missense_P15A,Missense_P15A exm701123 8 54764550 [A/G] NM_170587 RGS20 EXON Missense_A31T exm701128 8 54791929 [T/C] NM_170587 RGS20 EXON Missense_P93S exm701129 8 54791941 [A/G] NM_170587 RGS20 EXON Missense_A97T exm701130 8 54791942 [A/C] NM_170587 RGS20 EXON Missense_A97D exm701148 8 54852185 [T/C] NM_170587,NM_003702 RGS20,RGS20 EXON Missense_A187V,Missense_A40V exm701151 8 54852220 [A/G] NM_170587,NM_003702 RGS20,RGS20 EXON Missense_G199R,Missense_G52R exm701152 8 54852227 [A/G] NM_170587,NM_003702 RGS20,RGS20 EXON Missense_G201E,Missense_G54E exm701170 8 54870858 [T/C] NM_170587,NM_003702 RGS20,RGS20 EXON Missense_V336A,Missense_V189A exm701184 8 54900676 [G/C] NM_006756,NM_201437 TCEA1,TCEA1 EXON Missense_G155A,Missense_G134A exm701186 8 54900698 [T/G] NM_006756,NM_201437 TCEA1,TCEA1 EXON Missense_L148I,Missense_L127I exm701193 8 54906265 [T/C] NM_006756,NM_201437 TCEA1,TCEA1 EXON Missense_I95V,Missense_I74V exm701213 8 54963628 [G/C] NM_006330 LYPLA1 EXON Missense_P195A exm701221 8 54963739 [T/C] NM_006330 LYPLA1 EXON Missense_G158S exm701223 8 54965220 [A/G] NM_006330 LYPLA1 EXON Missense_P153S exm701224 8 54965231 [T/C] NM_006330 LYPLA1 EXON Missense_R149Q exm701232 8 54967638 [A/C] NM_006330 LYPLA1 EXON Missense_I114M exm701236 8 54975904 [T/C] NM_006330 LYPLA1 EXON Missense_V67M exm2174122 8 54978372 [A/G] NM_006330 LYPLA1 EXON Missense_H35Y exm701256 8 55047893 [A/G] NM_014175 MRPL15 EXON Missense_R17Q exm701259 8 55047926 [A/T] NM_014175 MRPL15 EXON Missense_K28M exm701265 8 55049089 [T/C] NM_014175 MRPL15 EXON Missense_R43W exm701266 8 55049131 [A/G] NM_014175 MRPL15 EXON Missense_R57G exm701269 8 55049188 [A/G] NM_014175 MRPL15 EXON Missense_I76V exm701277 8 55049901 [A/G] NM_014175 MRPL15 EXON Missense_S113G exm701279 8 55049976 [A/G] NM_014175 MRPL15 EXON Missense_V138I exm701288 8 55055266 [T/C] NM_014175 MRPL15 EXON Missense_L158S exm701289 8 55055274 [G/C] NM_014175 MRPL15 EXON Missense_E161Q exm701290 8 55055311 [T/G] NM_014175 MRPL15 EXON Missense_V173G exm701291 8 55055320 [T/C] NM_014175 MRPL15 EXON Missense_T176I exm701292 8 55055347 [A/G] NM_014175 MRPL15 Silent exm701294 8 55059962 [A/C] NM_014175 MRPL15 EXON Missense_P192T exm701304 8 55060254 [A/G] NM_014175 MRPL15 EXON Missense_N289S exm-rs1504749 8 55310711 [A/C] exm-rs10958409 8 55327091 [A/G] exm701345 8 55372387 [C/G] NM_022454 SOX17 EXON Missense_D359E exm-rs10102164 8 55421614 [A/G] exm-rs9298506 8 55437524 [A/G] exm2174153 8 55533591 [T/C] NM_006269 RP1 EXON Missense_P22L exm701352 8 55533629 [T/G] NM_006269 RP1 EXON Missense_A35S exm701360 8 55533804 [A/C] NM_006269 RP1 EXON Missense_T93K exm701379 8 55534089 [A/C] NM_006269 RP1 EXON Missense_T188K exm701384 8 55534713 [A/G] NM_006269 RP1 EXON Missense_A218T exm2174162 8 55534759 [A/G] NM_006269 RP1 EXON Missense_D233G exm701397 8 55537560 [T/C] NM_006269 RP1 EXON Missense_T373I exm701400 8 55537628 [T/C] NM_006269 RP1 EXON Nonsense_R396X exm701401 8 55537629 [A/G] NM_006269 RP1 EXON Missense_R396Q exm701409 8 55538010 [A/G] NM_006269 RP1 EXON Missense_N523S exm701421 8 55538447 [A/G] NM_006269 RP1 EXON Missense_A669T exm701423 8 55538687 [T/C] NM_006269 RP1 EXON Missense_L749F exm701424 8 55538697 [T/C] NM_006269 RP1 EXON Missense_T752M exm701425 8 55538805 [A/G] NM_006269 RP1 EXON Missense_G788E exm701428 8 55538828 [A/G] NM_006269 RP1 EXON Missense_G796S exm2247002 8 55538888 [A/G] NM_006269 RP1 EXON Missense_N816D exm701431 8 55538891 [A/G] NM_006269 RP1 EXON Missense_K817E exm701437 8 55539057 [A/G] NM_006269 RP1 EXON Missense_R872H exm701445 8 55539275 [T/G] NM_006269 RP1 EXON Missense_V945L exm2174176 8 55539336 [T/G] NM_006269 RP1 EXON Missense_S965I exm701448 8 55539380 [A/G] NM_006269 RP1 EXON Missense_G980S exm701449 8 55539393 [A/G] NM_006269 RP1 EXON Missense_D984G exm701450 8 55539395 [T/A] NM_006269 RP1 EXON Missense_N985Y exm701451 8 55539414 [A/G] NM_006269 RP1 EXON Missense_D991G exm701454 8 55539482 [C/G] NM_006269 RP1 EXON Missense_D1014H exm701456 8 55539543 [T/A] NM_006269 RP1 EXON Missense_H1034L exm701458 8 55539574 [A/C] NM_006269 RP1 EXON Missense_K1044N exm701464 8 55539974 [T/G] NM_006269 RP1 EXON Missense_D1178Y exm701466 8 55540031 [A/G] NM_006269 RP1 EXON Missense_S1197G exm701478 8 55540268 [T/C] NM_006269 RP1 EXON Missense_P1276S exm701479 8 55540280 [T/G] NM_006269 RP1 EXON Missense_F1280V exm701486 8 55540418 [C/G] NM_006269 RP1 EXON Missense_A1326P exm701489 8 55540472 [T/C] NM_006269 RP1 EXON Missense_F1344L exm701494 8 55540692 [T/C] NM_006269 RP1 EXON Missense_L1417P exm701502 8 55540898 [A/G] NM_006269 RP1 EXON Missense_G1486R exm701504 8 55540915 [A/C] NM_006269 RP1 EXON Missense_E1491D exm701506 8 55540953 [T/C] NM_006269 RP1 EXON Missense_L1504S exm701511 8 55541007 [A/G] NM_006269 RP1 EXON Missense_G1522D exm701517 8 55541226 [A/G] NM_006269 RP1 EXON Missense_R1595Q exm701518 8 55541241 [A/G] NM_006269 RP1 EXON Missense_S1600N exm701523 8 55541396 [T/C] NM_006269 RP1 EXON Missense_R1652C exm2247005 8 55541403 [C/G] NM_006269 RP1 EXON Missense_S1654C exm701530 8 55541450 [A/G] NM_006269 RP1 EXON Missense_A1670T exm701533 8 55541513 [T/C] NM_006269 RP1 EXON Missense_S1691P exm701543 8 55541738 [A/C] NM_006269 RP1 EXON Missense_N1766H exm701552 8 55541951 [A/G] NM_006269 RP1 EXON Missense_V1837I exm701555 8 55542115 [T/G] NM_006269 RP1 EXON Missense_L1891F exm701557 8 55542143 [T/C] NM_006269 RP1 EXON Missense_L1901F exm2174196 8 55542239 [T/C] NM_006269 RP1 EXON Nonsense_R1933X exm701561 8 55542247 [T/G] NM_006269 RP1 EXON Missense_F1935L exm701563 8 55542255 [A/G] NM_006269 RP1 EXON Missense_R1938H exm701573 8 55542497 [A/G] NM_006269 RP1 EXON Missense_G2019S exm701574 8 55542506 [A/C] NM_006269 RP1 EXON Missense_K2022Q exm701576 8 55542540 [A/G] NM_006269 RP1 EXON Missense_C2033Y exm701582 8 55542609 [A/G] NM_006269 RP1 EXON Missense_G2056D exm701586 8 55542765 [T/G] NM_006269 RP1 EXON Missense_I2108S exm701588 8 55542780 [A/C] NM_006269 RP1 EXON Missense_T2113N exm2266623 8 55630615 [A/G] exm2262501 8 55914515 [T/C] exm2258899 8 56116863 [A/G] NM_052898 XKR4 Silent exm2270973 8 56344186 [T/C] NM_052898 XKR4 Silent exm701665 8 56663612 [T/C] NM_152417 TMEM68 EXON Missense_V200I exm701671 8 56675233 [T/C] NM_152417 TMEM68 EXON Missense_V96M exm2247008 8 56675409 [A/T] NM_152417 TMEM68 EXON Missense_Y37F exm701678 8 56686224 [T/C] NM_024831 TGS1 EXON Missense_I16T exm2247009 8 56695345 [A/G] NM_024831 TGS1 EXON Missense_Y47C exm701685 8 56698298 [C/G] NM_024831 TGS1 EXON Missense_E63Q exm701691 8 56698365 [A/G] NM_024831 TGS1 EXON Missense_S85N exm701692 8 56698370 [G/C] NM_024831 TGS1 EXON Missense_L87V exm701696 8 56698801 [T/C] NM_024831 TGS1 EXON Missense_S115F exm701704 8 56698905 [A/G] NM_024831 TGS1 EXON Missense_D150N exm701706 8 56698915 [T/C] NM_024831 TGS1 EXON Missense_A153V exm701707 8 56698935 [A/G] NM_024831 TGS1 EXON Missense_I160V exm701708 8 56698945 [A/G] NM_024831 TGS1 EXON Missense_Y163C exm701718 8 56699119 [A/C] NM_024831 TGS1 EXON Missense_Q221P exm701721 8 56699136 [A/C] NM_024831 TGS1 EXON Missense_P227T exm701725 8 56699227 [T/C] NM_024831 TGS1 EXON Missense_A257V exm701728 8 56699251 [T/C] NM_024831 TGS1 EXON Missense_S265L exm701736 8 56699352 [T/C] NM_024831 TGS1 EXON Missense_P299S exm701741 8 56699451 [A/G] NM_024831 TGS1 EXON Missense_T332A exm701751 8 56699560 [G/C] NM_024831 TGS1 EXON Missense_G368A exm2174247 8 56699587 [T/C] NM_024831 TGS1 EXON Missense_S377L exm701755 8 56702758 [A/G] NM_024831 TGS1 EXON Missense_G394R exm701756 8 56702797 [A/G] NM_024831 TGS1 EXON Missense_T407A exm701757 8 56702798 [C/G] NM_024831 TGS1 EXON Missense_T407S exm701759 8 56702828 [G/C] NM_024831 TGS1 EXON Missense_P417R exm701761 8 56705280 [A/C] NM_024831 TGS1 EXON Missense_N435T exm701774 8 56708701 [T/C] NM_024831 TGS1 EXON Missense_I511T exm701785 8 56711656 [A/G] NM_024831 TGS1 EXON Missense_V576I exm701788 8 56711671 [A/G] NM_024831 TGS1 EXON Missense_E581K exm701790 8 56711690 [A/G] NM_024831 TGS1 EXON Missense_Y587C exm701792 8 56711713 [A/G] NM_024831 TGS1 EXON Missense_T595A exm701800 8 56715038 [C/G] NM_024831 TGS1 EXON Missense_N624K exm701806 8 56717466 [A/G] NM_024831 TGS1 EXON Missense_V672I exm701811 8 56717529 [A/G] NM_024831 TGS1 EXON Missense_V693I exm701814 8 56717568 [A/G] NM_024831 TGS1 EXON Missense_I706V exm701819 8 56723557 [T/G] NM_024831 TGS1 EXON Missense_F754C exm701821 8 56725603 [A/G] NM_024831 TGS1 EXON Missense_E789K exm701827 8 56737244 [A/C] NM_024831 TGS1 EXON Missense_R848S exm2258900 8 56816710 [A/G] NM_002350,NM_001111097 LYN,LYN Silent,Silent exm701852 8 56864526 [A/C] NM_002350,NM_001111097 LYN,LYN EXON Synonymous_G163G,Synonymous_G142G exm701899 8 56986648 [T/G] NM_001146227,NM_001023 RPS20,RPS20 EXON Missense_T25K,Missense_T25K exm701919 8 57025644 [A/G] NM_005372 MOS EXON Missense_S300P exm701936 8 57026229 [A/C] NM_005372 MOS EXON Missense_A105S exm701942 8 57026379 [T/C] NM_005372 MOS EXON Missense_I55V exm701946 8 57026492 [A/G] NM_005372 MOS EXON Missense_P17L exm701953 8 57078933 [T/G] NM_001114634,NM_002655,NM_001114635 PLAG1,PLAG1,PLAG1 EXON Missense_P458T,Missense_P458T,Missense_P376T exm701978 8 57079869 [T/C] NM_001114634,NM_002655,NM_001114635 PLAG1,PLAG1,PLAG1 EXON Missense_T146A,Missense_T146A,Missense_T64A exm701988 8 57080027 [T/A] NM_001114634,NM_002655,NM_001114635 PLAG1,PLAG1,PLAG1 EXON Missense_K93M,Missense_K93M,Missense_K11M exm-rs10958476 8 57095808 [T/C] NM_001114634,NM_002655,NM_001114635 PLAG1,PLAG1,PLAG1 Silent,Silent,Silent exm-rs7833986 8 57100149 [A/G] NM_001114634,NM_002655,NM_001114635 PLAG1,PLAG1,PLAG1 Silent,Silent,Silent exm-rs13273123 8 57100791 [A/G] NM_001114634,NM_002655,NM_001114635 PLAG1,PLAG1,PLAG1 Silent,Silent,Silent exm702001 8 57129006 [T/C] NM_001011668,NM_001011671,NM_001011667,NM_001011670,NM_024300,NM_001011669 CHCHD7,CHCHD7,CHCHD7,CHCHD7,CHCHD7,CHCHD7 EXON Synonymous_S48S,Synonymous_S23S,Missense_P63L,Missense_P38L,Synonymous_S35S,Missense_P50L exm-rs9650315 8 57155598 [T/G] exm-rs7815788 8 57179020 [T/C] exm-rs7460090 8 57194163 [T/C] exm702016 8 57218190 [T/G] NM_138969 SDR16C5 EXON Missense_P268T exm702017 8 57218237 [T/G] NM_138969 SDR16C5 EXON Missense_E252A exm2174349 8 57218282 [T/C] NM_138969 SDR16C5 Silent exm702027 8 57224802 [T/C] NM_138969 SDR16C5 EXON Missense_G127R exm702034 8 57228723 [A/G] NM_138969 SDR16C5 EXON Missense_R62W exm2266732 8 57311502 [A/G] exm702083 8 57354028 [T/C] NM_006211,NM_001135690 PENK,PENK EXON Missense_A203T,Missense_A203T exm702086 8 57354047 [G/C] NM_006211,NM_001135690 PENK,PENK EXON Missense_S196R,Missense_S196R exm702089 8 57354067 [T/C] NM_006211,NM_001135690 PENK,PENK EXON Missense_M190V,Missense_M190V exm702095 8 57354172 [T/C] NM_006211,NM_001135690 PENK,PENK EXON Missense_D155N,Missense_D155N exm702107 8 57354340 [T/C] NM_006211,NM_001135690 PENK,PENK EXON Missense_R99G,Missense_R99G exm702109 8 57354366 [A/G] NM_006211,NM_001135690 PENK,PENK EXON Missense_P90L,Missense_P90L exm702111 8 57354387 [T/G] NM_006211,NM_001135690 PENK,PENK EXON Missense_T83N,Missense_T83N exm702114 8 57354441 [A/C] NM_006211,NM_001135690 PENK,PENK EXON Missense_C65F,Missense_C65F exm2258902 8 57400489 [T/C] exm-rs12546751 8 57752823 [A/G] exm702136 8 57876468 [T/C] NM_017813 IMPAD1 EXON Missense_E322K exm702142 8 57876576 [T/C] NM_017813 IMPAD1 EXON Missense_K286E exm702162 8 57892699 [T/C] NM_017813 IMPAD1 EXON Missense_K149E exm-rs7017199 8 58065790 [T/C] exm-rs954295 8 58306018 [T/G] exm-rs1436013 8 58778118 [T/G] exm2270974 8 58819650 [T/C] exm-rs1992045 8 58840924 [T/C] exm2258905 8 59053292 [T/C] NM_147189 FAM110B Silent exm702181 8 59058842 [T/C] NM_147189 FAM110B EXON Missense_A18V exm702187 8 59059166 [A/G] NM_147189 FAM110B EXON Missense_N126S exm702192 8 59059214 [A/G] NM_147189 FAM110B EXON Missense_R142H exm702194 8 59059228 [T/C] NM_147189 FAM110B EXON Missense_H147Y exm702198 8 59059349 [A/G] NM_147189 FAM110B EXON Missense_E187G exm702200 8 59059429 [A/G] NM_147189 FAM110B EXON Missense_A214T exm-rs1160133 8 59305290 [T/C] exm702226 8 59343215 [A/C] NM_001077619 UBXN2B EXON Missense_D109A exm702232 8 59346981 [A/G] NM_001077619 UBXN2B EXON Missense_N151D exm-rs2081687 8 59388565 [T/C] exm702262 8 59404300 [T/C] NM_000780 CYP7A1 EXON Missense_G417R exm702268 8 59404935 [G/C] NM_000780 CYP7A1 EXON Missense_P398A exm702270 8 59404998 [T/C] NM_000780 CYP7A1 EXON Missense_G377S exm702276 8 59407065 [T/C] NM_000780 CYP7A1 EXON Missense_D347N exm702280 8 59407161 [T/C] NM_000780 CYP7A1 EXON Missense_V315M exm702281 8 59407167 [T/C] NM_000780 CYP7A1 EXON Missense_E313K exm702285 8 59409292 [A/C] NM_000780 CYP7A1 EXON Missense_R260L exm2247025 8 59409373 [T/C] NM_000780 CYP7A1 EXON Missense_N233S exm702297 8 59409493 [A/G] NM_000780 CYP7A1 EXON Missense_T193I exm702314 8 59410853 [T/G] NM_000780 CYP7A1 EXON Missense_H86N exm702323 8 59411001 [T/A] NM_000780 CYP7A1 EXON Missense_N36K exm702326 8 59412620 [A/G] NM_000780 CYP7A1 EXON Missense_A13V exm702332 8 59483470 [C/G] NM_001007070,NM_001007067,NM_001007068,NM_005625,NM_001007069 SDCBP,SDCBP,SDCBP,SDCBP,SDCBP EXON Missense_P26A,Missense_P26A,Missense_P20A,Missense_P26A,Missense_P26A exm702338 8 59484832 [T/C] NM_001007070,NM_001007067,NM_001007068,NM_005625,NM_001007069 SDCBP,SDCBP,SDCBP,SDCBP,SDCBP EXON Missense_R67C,Missense_R67C,Missense_R61C,Missense_R67C,Missense_R67C exm702339 8 59484833 [A/G] NM_001007070,NM_001007067,NM_001007068,NM_005625,NM_001007069 SDCBP,SDCBP,SDCBP,SDCBP,SDCBP EXON Missense_R67H,Missense_R67H,Missense_R61H,Missense_R67H,Missense_R67H exm702346 8 59488499 [T/C] NM_001007070,NM_001007067,NM_001007068,NM_005625,NM_001007069 SDCBP,SDCBP,SDCBP,SDCBP,SDCBP EXON Missense_A93V,Missense_A94V,Missense_A88V,Missense_A94V,Missense_A93V exm2247026 8 59493112 [A/G] NM_001007070,NM_001007067,NM_001007068,NM_005625,NM_001007069 SDCBP,SDCBP,SDCBP,SDCBP,SDCBP EXON Missense_T262A,Missense_T263A,Missense_T257A,Missense_T263A,Missense_T262A exm2266627 8 59496052 [A/G] exm702377 8 59496687 [A/G] NM_001144772,NM_003580 NSMAF,NSMAF EXON Missense_I942T,Missense_I911T exm702380 8 59498262 [T/C] NM_001144772,NM_003580 NSMAF,NSMAF EXON Missense_V901I,Missense_V870I exm702382 8 59498295 [T/C] NM_001144772,NM_003580 NSMAF,NSMAF EXON Missense_V890I,Missense_V859I exm702401 8 59502096 [A/G] NM_001144772,NM_003580 NSMAF,NSMAF EXON Missense_T740M,Missense_T709M exm702402 8 59502106 [A/G] NM_001144772,NM_003580 NSMAF,NSMAF EXON Missense_R737C,Missense_R706C exm702414 8 59508134 [T/C] NM_001144772,NM_003580 NSMAF,NSMAF EXON Missense_Y657C,Missense_Y626C exm702439 8 59511917 [T/C] NM_001144772,NM_003580 NSMAF,NSMAF EXON Missense_E518K,Missense_E487K exm2174491 8 59512402 [T/C] NM_001144772,NM_003580 NSMAF,NSMAF EXON Missense_V485M,Missense_V454M exm702452 8 59513865 [T/G] NM_001144772,NM_003580 NSMAF,NSMAF EXON Missense_N451T,Missense_N420T exm2247028 8 59514651 [G/C] NM_001144772,NM_003580 NSMAF,NSMAF EXON Missense_G395A,Missense_G364A exm702462 8 59514679 [T/C] NM_001144772,NM_003580 NSMAF,NSMAF EXON Missense_T386A,Missense_T355A exm702469 8 59515831 [T/C] NM_001144772,NM_003580 NSMAF,NSMAF EXON Missense_N359S,Missense_N328S exm702470 8 59515841 [A/G] NM_001144772,NM_003580 NSMAF,NSMAF EXON Missense_R356C,Missense_R325C exm702475 8 59515933 [A/G] NM_001144772,NM_003580 NSMAF,NSMAF EXON Missense_A325V,Missense_A294V exm2247029 8 59518584 [A/G] NM_001144772,NM_003580 NSMAF,NSMAF EXON Missense_V288A,Missense_V257A exm702484 8 59520366 [A/G] NM_001144772,NM_003580 NSMAF,NSMAF EXON Missense_R272C,Missense_R241C exm702489 8 59522239 [A/G] NM_001144772,NM_003580 NSMAF,NSMAF EXON Missense_T235M,Missense_T204M exm2174518 8 59544086 [T/C] NM_001144772,NM_003580 NSMAF,NSMAF EXON Missense_H149R,Missense_H118R exm702522 8 59571856 [A/C] NM_001144772,NM_003580 NSMAF,NSMAF EXON Missense_I17S,Silent exm-rs960089 8 59708309 [T/C] exm702545 8 59728090 [A/G] NM_014729 TOX EXON Missense_P400L exm702549 8 59728153 [A/G] NM_014729 TOX EXON Missense_P379L exm702552 8 59728189 [A/G] NM_014729 TOX EXON Missense_S367L exm2174531 8 59728219 [A/G] NM_014729 TOX EXON Missense_S357L exm2277369 8 59728262 [C/G] NM_014729 TOX EXON Missense_V343L exm702565 8 59750837 [T/C] NM_014729 TOX EXON Missense_M243V exm702567 8 59764186 [A/C] NM_014729 TOX EXON Missense_G197V exm702572 8 59764351 [T/C] NM_014729 TOX EXON Missense_R142Q exm702578 8 59851907 [T/C] NM_014729 TOX EXON Missense_N122S exm702579 8 59851914 [T/C] NM_014729 TOX EXON Missense_V120I exm702586 8 59852001 [A/G] NM_014729 TOX EXON Missense_S91P exm2270975 8 59985792 [T/C] NM_014729 TOX Silent exm702597 8 60031491 [A/G] NM_014729 TOX EXON Missense_P19L exm702598 8 60031492 [T/G] NM_014729 TOX EXON Missense_P19T exm2266628 8 60056229 [A/G] exm-rs3110127 8 60130296 [T/C] exm2266734 8 60308317 [A/G] exm2266629 8 60775976 [A/G] exm-rs569688 8 60961821 [T/G] exm-rs6995588 8 61003897 [T/C] exm2270862 8 61149731 [T/C] NM_004056 CA8 Silent exm702621 8 61178512 [A/G] NM_004056 CA8 EXON Missense_T130M exm702622 8 61178527 [T/C] NM_004056 CA8 EXON Missense_R125H exm2258911 8 61178574 [T/C] NM_004056 CA8 EXON Synonymous_E109E exm702624 8 61178574 [T/C] NM_004056 CA8 EXON Synonymous_E109E exm702626 8 61178602 [A/G] NM_004056 CA8 EXON Missense_S100L exm2264314 8 61428280 [A/C] exm702650 8 61471412 [T/C] NM_002865,NM_001242644 RAB2A,RAB2A EXON Synonymous_G16G,Silent exm2264293 8 61548494 [A/C] exm702664 8 61654118 [A/G] NM_017780 CHD7 EXON Missense_I43V exm702674 8 61654298 [A/T] NM_017780 CHD7 EXON Missense_S103T exm702679 8 61654365 [T/G] NM_017780 CHD7 EXON Missense_V125G exm702695 8 61654703 [A/G] NM_017780 CHD7 EXON Missense_V238M exm702703 8 61654847 [A/G] NM_017780 CHD7 EXON Missense_R286G exm702710 8 61655037 [A/G] NM_017780 CHD7 EXON Missense_N349S exm702715 8 61655179 [T/G] NM_017780 CHD7 EXON Missense_M396I exm702723 8 61655388 [T/C] NM_017780 CHD7 EXON Missense_S466L exm702731 8 61655556 [T/G] NM_017780 CHD7 EXON Missense_G522V exm702749 8 61693851 [T/C] NM_017780 CHD7 EXON Missense_P653L exm702753 8 61693917 [A/G] NM_017780 CHD7 EXON Missense_K675R exm702761 8 61707633 [A/G] NM_017780 CHD7 EXON Missense_K729E exm702764 8 61707678 [A/G] NM_017780 CHD7 EXON Missense_G744S exm702765 8 61712981 [A/G] NM_017780 CHD7 EXON Missense_R758H exm702769 8 61714146 [A/T] NM_017780 CHD7 EXON Missense_K812N exm702786 8 61734482 [A/G] NM_017780 CHD7 EXON Missense_R944H exm702805 8 61743055 [A/G] NM_017780 CHD7 EXON Missense_G1233S exm702864 8 61764736 [T/C] NM_017780 CHD7 EXON Missense_R1942W exm702868 8 61764760 [A/G] NM_017780 CHD7 EXON Missense_A1950T exm702887 8 61765637 [A/G] NM_017780 CHD7 EXON Missense_N2118S exm702890 8 61765762 [A/G] NM_017780 CHD7 EXON Missense_A2160T exm702891 8 61765767 [T/A] NM_017780 CHD7 EXON Missense_H2161Q exm702895 8 61765966 [A/G] NM_017780 CHD7 EXON Missense_G2228R exm702903 8 61768562 [A/G] NM_017780 CHD7 EXON Missense_N2322S exm702904 8 61768586 [G/C] NM_017780 CHD7 EXON Missense_G2330A exm702910 8 61768682 [A/G] NM_017780 CHD7 EXON Missense_S2362N exm2277370 8 61769308 [C/G] NM_017780 CHD7 EXON Missense_S2490W exm702925 8 61769320 [T/C] NM_017780 CHD7 EXON Missense_T2494I exm702929 8 61769418 [A/C] NM_017780 CHD7 EXON Missense_M2527L exm702932 8 61769434 [T/C] NM_017780 CHD7 EXON Missense_T2532M exm2174694 8 61775182 [T/C] NM_017780 CHD7 EXON Missense_P2683S exm2258913 8 61777937 [T/C] NM_017780 CHD7 EXON Synonymous_G2813G exm2270863 8 61955772 [T/C] exm-rs1367972 8 62003453 [A/G] exm-rs2931309 8 62096568 [A/G] exm2262509 8 62172668 [A/C] exm702982 8 62212502 [A/G] NM_173519 CLVS1 EXON Missense_R39H exm703010 8 62370981 [T/C] NM_173519 CLVS1 EXON Missense_T286M exm-rs903027 8 62409428 [T/G] NM_173519 CLVS1 Silent exm703023 8 62415937 [T/C] NM_004318,NM_001164750 ASPH,ASPH EXON Missense_R753H,Missense_R724H exm703028 8 62416016 [T/C] NM_004318,NM_001164750 ASPH,ASPH EXON Missense_V727I,Missense_V698I exm703038 8 62430611 [T/C] NM_004318,NM_001164750 ASPH,ASPH EXON Missense_T658A,Missense_T629A exm703043 8 62438550 [A/G] NM_004318,NM_001164750 ASPH,ASPH EXON Missense_T629M,Missense_T600M exm703048 8 62460664 [A/G] NM_004318,NM_001164750 ASPH,ASPH EXON Missense_T577I,Missense_T548I exm703059 8 62475338 [T/C] NM_004318,NM_001164750 ASPH,ASPH EXON Missense_G468R,Missense_G439R exm703064 8 62475438 [A/C] NM_004318,NM_001164750 ASPH,ASPH EXON Synonymous_G434G,Synonymous_G405G exm703065 8 62479751 [A/G] NM_004318,NM_001164750 ASPH,ASPH EXON Missense_R426C,Missense_R397C exm703086 8 62496504 [A/C] NM_004318,NM_001164750 ASPH,ASPH EXON Missense_R354M,Missense_R325M exm703097 8 62546252 [T/A] NM_004318,NM_001164750,NM_001164754,NM_001164751,NM_001164755,NM_001164753,NM_032466,NM_032468,NM_001164752 ASPH,ASPH,ASPH,ASPH,ASPH,ASPH,ASPH,ASPH,ASPH EXON Missense_E308D,Missense_E279D,Missense_E289D,Missense_E293D,Missense_E265D,Missense_E251D,Missense_E308D,Missense_E294D,Missense_E274D exm703101 8 62550551 [A/G] NM_004318,NM_001164750,NM_001164754,NM_001164751,NM_001164755,NM_001164753,NM_032466,NM_032468,NM_001164752 ASPH,ASPH,ASPH,ASPH,ASPH,ASPH,ASPH,ASPH,ASPH EXON Missense_P282S,Missense_P253S,Missense_P263S,Missense_P267S,Missense_P239S,Missense_P225S,Missense_P282S,Missense_P268S,Missense_P248S exm703123 8 62557164 [T/C] NM_004318,NM_001164750,NM_001164754,NM_001164751,NM_001164755,NM_001164753,NM_032466,NM_032468,NM_001164752 ASPH,ASPH,ASPH,ASPH,ASPH,ASPH,ASPH,ASPH,ASPH EXON Missense_E216G,Missense_E187G,Missense_E216G,Missense_E202G,Missense_E173G,Missense_E159G,Missense_E216G,Missense_E202G,Missense_E202G exm703132 8 62559362 [A/G] NM_004318,NM_001164750,NM_001164754,NM_001164751,NM_001164755,NM_001164753,NM_032466,NM_032468,NM_001164752 ASPH,ASPH,ASPH,ASPH,ASPH,ASPH,ASPH,ASPH,ASPH EXON Missense_A189V,Missense_A160V,Missense_A189V,Missense_A175V,Silent,Silent,Missense_A189V,Missense_A175V,Missense_A175V exm-IND8-62721963 8 62559410 [I/D] NM_004318,NM_001164750,NM_001164754,NM_001164751,NM_001164755,NM_001164753,NM_032466,NM_032468,NM_001164752 ASPH,ASPH,ASPH,ASPH,ASPH,ASPH,ASPH,ASPH,ASPH EXON exm703135 8 62559417 [A/G] NM_004318,NM_001164750,NM_001164754,NM_001164751,NM_001164755,NM_001164753,NM_032466,NM_032468,NM_001164752 ASPH,ASPH,ASPH,ASPH,ASPH,ASPH,ASPH,ASPH,ASPH EXON Nonsense_Q171X,Nonsense_Q142X,Nonsense_Q171X,Nonsense_Q157X,Silent,Silent,Nonsense_Q171X,Nonsense_Q157X,Nonsense_Q157X exm703140 8 62563618 [T/C] NM_004318,NM_001164750,NM_001164754,NM_001164751,NM_001164755,NM_001164753,NM_032466,NM_032468,NM_001164752 ASPH,ASPH,ASPH,ASPH,ASPH,ASPH,ASPH,ASPH,ASPH EXON Missense_A161T,Missense_A132T,Missense_A161T,Missense_A147T,Missense_A161T,Missense_A147T,Missense_A161T,Missense_A147T,Missense_A147T exm2258917 8 62563658 [T/G] NM_004318,NM_001164750,NM_001164754,NM_001164751,NM_001164755,NM_001164753,NM_032466,NM_032468,NM_001164752 ASPH,ASPH,ASPH,ASPH,ASPH,ASPH,ASPH,ASPH,ASPH EXON Synonymous_A147A,Synonymous_A118A,Synonymous_A147A,Synonymous_A133A,Synonymous_A147A,Synonymous_A133A,Synonymous_A147A,Synonymous_A133A,Synonymous_A133A exm703147 8 62566142 [A/C] NM_004318,NM_001164750,NM_001164754,NM_001164751,NM_001164755,NM_001164753,NM_032466,NM_032468,NM_001164752 ASPH,ASPH,ASPH,ASPH,ASPH,ASPH,ASPH,ASPH,ASPH EXON Missense_V134F,Missense_V105F,Missense_V134F,Missense_V120F,Missense_V134F,Missense_V120F,Missense_V134F,Missense_V120F,Missense_V120F exm2258918 8 62577831 [A/G] NM_004318,NM_001164750,NM_001164754,NM_001164751,NM_001164755,NM_001164753,NM_032466,NM_032468,NM_001164752,NM_032467,NM_020164 ASPH,ASPH,ASPH,ASPH,ASPH,ASPH,ASPH,ASPH,ASPH,ASPH,ASPH EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Synonymous_N204N,Synonymous_N219N exm703152 8 62577838 [T/C] NM_004318,NM_001164750,NM_001164754,NM_001164751,NM_001164755,NM_001164753,NM_032466,NM_032468,NM_001164752,NM_032467,NM_020164 ASPH,ASPH,ASPH,ASPH,ASPH,ASPH,ASPH,ASPH,ASPH,ASPH,ASPH EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_K202R,Missense_K217R exm703154 8 62577860 [T/C] NM_004318,NM_001164750,NM_001164754,NM_001164751,NM_001164755,NM_001164753,NM_032466,NM_032468,NM_001164752,NM_032467,NM_020164 ASPH,ASPH,ASPH,ASPH,ASPH,ASPH,ASPH,ASPH,ASPH,ASPH,ASPH EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_T195A,Missense_T210A exm703162 8 62580799 [T/C] NM_004318,NM_001164750,NM_001164754,NM_001164751,NM_001164755,NM_001164753,NM_032466,NM_032468,NM_001164752,NM_032467,NM_020164 ASPH,ASPH,ASPH,ASPH,ASPH,ASPH,ASPH,ASPH,ASPH,ASPH,ASPH EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_A91T,Missense_A106T exm703163 8 62580802 [T/C] NM_004318,NM_001164750,NM_001164754,NM_001164751,NM_001164755,NM_001164753,NM_032466,NM_032468,NM_001164752,NM_032467,NM_020164 ASPH,ASPH,ASPH,ASPH,ASPH,ASPH,ASPH,ASPH,ASPH,ASPH,ASPH EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_K90E,Missense_K105E exm703193 8 62596622 [G/C] NM_004318,NM_001164750,NM_001164754,NM_001164751,NM_001164755,NM_001164753,NM_032466,NM_032468,NM_001164752,NM_032467,NM_020164,NM_001164756 ASPH,ASPH,ASPH,ASPH,ASPH,ASPH,ASPH,ASPH,ASPH,ASPH,ASPH,ASPH EXON Missense_L77V,Missense_L48V,Missense_L77V,Missense_L48V,Missense_L77V,Missense_L48V,Missense_L77V,Missense_L48V,Missense_L48V,Missense_L48V,Missense_L48V,Missense_L77V exm2270864 8 62603795 [T/C] NM_004318,NM_001164754,NM_001164755,NM_032466,NM_001164756 ASPH,ASPH,ASPH,ASPH,ASPH Silent,Silent,Silent,Silent,Silent exm2270865 8 62723254 [T/C] exm2270976 8 62945023 [T/C] exm2270866 8 63449366 [T/C] NM_173688 NKAIN3 Silent exm703217 8 63492175 [A/G] NM_173688 NKAIN3 EXON Missense_I44M exm703227 8 63659635 [A/G] NM_173688 NKAIN3 EXON Missense_V140I exm703229 8 63659683 [T/C] NM_173688 NKAIN3 EXON Missense_L156F exm2262512 8 63750069 [A/G] NM_173688 NKAIN3 Silent exm2270867 8 63874975 [T/C] NM_173688 NKAIN3 Silent exm703252 8 63938764 [A/G] NM_003878 GGH EXON Missense_T151I exm2174936 8 63942733 [T/C] NM_003878 GGH EXON Missense_I90V exm703269 8 63948327 [T/C] NM_003878 GGH EXON Missense_I38V exm703270 8 63951237 [T/C] NM_003878 GGH EXON Missense_A31T exm703281 8 63976793 [T/G] NM_000370 TTPA EXON Missense_P212Q exm703292 8 63978563 [T/C] NM_000370 TTPA EXON Missense_R151Q exm703298 8 63985494 [T/C] NM_000370 TTPA EXON Missense_A120T exm2174952 8 63985514 [T/C] NM_000370 TTPA EXON Missense_K113R exm703304 8 63998403 [T/C] NM_000370 TTPA EXON Missense_D60N exm703326 8 64099225 [A/G] NM_152758 YTHDF3 EXON Missense_A219T exm703327 8 64099240 [A/G] NM_152758 YTHDF3 EXON Missense_V224M exm703335 8 64099520 [A/G] NM_152758 YTHDF3 EXON Missense_N317S exm703343 8 64099973 [T/C] NM_152758 YTHDF3 EXON Missense_M468T exm703348 8 64100186 [T/C] NM_152758 YTHDF3 EXON Missense_P539L exm703351 8 64122254 [A/G] NM_152758 YTHDF3 EXON Missense_T583A exm2266736 8 64247381 [A/G] exm2270868 8 64428514 [T/C] exm-rs2100347 8 64499604 [T/C] exm2264294 8 64708102 [A/C] exm2262514 8 65175053 [T/C] exm2266630 8 65242166 [A/G] exm703363 8 65493429 [T/G] NM_152414 BHLHE22 EXON Missense_S28A exm2258925 8 65494199 [T/C] NM_152414 BHLHE22 EXON Synonymous_A284A exm2258926 8 65500797 [A/G] exm703395 8 65509264 [A/G] NM_004820 CYP7B1 EXON Missense_R486C exm703400 8 65509486 [T/C] NM_004820 CYP7B1 EXON Missense_E412K exm703410 8 65527669 [T/C] NM_004820 CYP7B1 EXON Missense_R324H exm703413 8 65527711 [T/C] NM_004820 CYP7B1 EXON Missense_R310Q exm703419 8 65528273 [T/A] NM_004820 CYP7B1 EXON Nonsense_Y275X exm703429 8 65528568 [A/G] NM_004820 CYP7B1 EXON Missense_T177M exm2266632 8 66079805 [A/G] NR_038901 LINC00251 Silent exm2270978 8 66126728 [T/C] exm-rs10957350 8 66330462 [T/C] exm703454 8 66516661 [T/C] NM_018120 ARMC1 EXON Missense_A273T exm703465 8 66525480 [A/G] NM_018120 ARMC1 EXON Missense_T155M exm2258929 8 66539475 [A/G] NM_018120 ARMC1 EXON Synonymous_P53P exm703484 8 66539569 [T/C] NM_018120 ARMC1 EXON Missense_R22Q exm2247059 8 66539611 [A/G] NM_018120 ARMC1 EXON Missense_M8T exm703494 8 66594600 [A/G] NM_014637,NM_001145839,NM_001145838 MTFR1,MTFR1,MTFR1 EXON Missense_R27G,Missense_R27G,Silent exm703509 8 66605947 [A/T] NM_014637,NM_001145839,NM_001145838 MTFR1,MTFR1,MTFR1 EXON Missense_D78E,Missense_D78E,Missense_D45E exm703513 8 66617012 [A/G] NM_014637,NM_001145839,NM_001145838 MTFR1,MTFR1,MTFR1 EXON Missense_D122G,Missense_D122G,Missense_D89G exm703516 8 66617082 [T/C] NM_014637,NM_001145839,NM_001145838 MTFR1,MTFR1,MTFR1 EXON Synonymous_C145C,Synonymous_C145C,Synonymous_C112C exm703525 8 66619368 [A/G] NM_014637,NM_001145839,NM_001145838 MTFR1,MTFR1,MTFR1 EXON Missense_R214Q,Missense_R214Q,Missense_R181Q exm703526 8 66619386 [A/G] NM_014637,NM_001145839,NM_001145838 MTFR1,MTFR1,MTFR1 EXON Missense_N220S,Missense_N220S,Missense_N187S exm703529 8 66620110 [A/G] NM_014637,NM_001145839,NM_001145838 MTFR1,MTFR1,MTFR1 EXON Missense_D266G,Missense_D266G,Missense_D233G exm703541 8 66631598 [A/G] NM_002603,NM_001242318 PDE7A,PDE7A EXON Missense_S433L,Missense_S459L exm703542 8 66631607 [T/C] NM_002603,NM_001242318 PDE7A,PDE7A EXON Missense_R430K,Missense_R456K exm703554 8 66635809 [A/G] NM_002603,NM_001242318 PDE7A,PDE7A EXON Missense_R378C,Missense_R404C exm703557 8 66635820 [A/G] NM_002603,NM_001242318 PDE7A,PDE7A EXON Missense_P374L,Missense_P400L exm703577 8 66651738 [T/C] NM_002603,NM_001242318 PDE7A,PDE7A EXON Synonymous_L172L,Synonymous_L198L exm2258932 8 66677039 [T/C] NM_002603,NM_001242318 PDE7A,PDE7A Silent,Silent exm703585 8 66692011 [T/C] NM_002603,NM_001242318 PDE7A,PDE7A EXON Missense_G50E,Missense_G76E exm703587 8 66695041 [G/C] NM_002603,NM_001242318 PDE7A,PDE7A EXON Missense_T33S,Missense_T59S exm2270979 8 66949849 [T/C] NM_033105 DNAJC5B Silent exm703595 8 66963810 [C/G] NM_033105 DNAJC5B EXON Missense_Q10E exm703596 8 66963814 [A/G] NM_033105 DNAJC5B EXON Missense_R11Q exm703607 8 66989025 [A/G] NM_033105 DNAJC5B EXON Missense_G84R exm703610 8 66989037 [G/C] NM_033105 DNAJC5B EXON Missense_L88V exm703615 8 66992705 [T/G] NM_033105 DNAJC5B EXON Nonsense_E143X exm703621 8 67012244 [G/C] NM_033105 DNAJC5B EXON Missense_R193P exm703635 8 67040549 [T/C] NM_184085,NM_184086,NM_184087,NM_033058 TRIM55,TRIM55,TRIM55,TRIM55 EXON Missense_P60L,Missense_P60L,Missense_P60L,Missense_P60L exm703640 8 67047224 [A/G] NM_184085,NM_184086,NM_184087,NM_033058 TRIM55,TRIM55,TRIM55,TRIM55 Silent,Silent,Silent,Silent exm703647 8 67047301 [A/G] NM_184085,NM_184086,NM_184087,NM_033058 TRIM55,TRIM55,TRIM55,TRIM55 EXON Missense_E140K,Missense_E140K,Missense_E140K,Missense_E140K exm703664 8 67061980 [A/G] NM_184085,NM_184086,NM_184087,NM_033058 TRIM55,TRIM55,TRIM55,TRIM55 EXON Missense_R235Q,Missense_R235Q,Silent,Missense_R235Q exm703665 8 67061983 [T/C] NM_184085,NM_184086,NM_184087,NM_033058 TRIM55,TRIM55,TRIM55,TRIM55 EXON Missense_T236I,Missense_T236I,Silent,Missense_T236I exm703668 8 67062009 [T/C] NM_184085,NM_184086,NM_184087,NM_033058 TRIM55,TRIM55,TRIM55,TRIM55 EXON Missense_R245C,Missense_R245C,Silent,Missense_R245C exm703681 8 67062681 [A/G] NM_184085,NM_184086,NM_184087,NM_033058 TRIM55,TRIM55,TRIM55,TRIM55 EXON Missense_R322H,Missense_R322H,Silent,Missense_R322H exm703685 8 67064613 [A/G] NM_184085,NM_184086,NM_184087,NM_033058 TRIM55,TRIM55,TRIM55,TRIM55 EXON Synonymous_E329E,Synonymous_E329E,Silent,Synonymous_E329E exm2247071 8 67066291 [T/G] NM_184085,NM_184086,NM_184087,NM_033058 TRIM55,TRIM55,TRIM55,TRIM55 EXON Missense_V416L,Silent,Silent,Missense_V416L exm703701 8 67066367 [T/G] NM_184085,NM_184086,NM_184087,NM_033058 TRIM55,TRIM55,TRIM55,TRIM55 EXON Missense_F441C,Silent,Silent,Missense_F441C exm703702 8 67066394 [T/C] NM_184085,NM_184086,NM_184087,NM_033058 TRIM55,TRIM55,TRIM55,TRIM55 EXON Missense_T450I,Silent,Silent,Missense_T450I exm703703 8 67066396 [T/C] NM_184085,NM_184086,NM_184087,NM_033058 TRIM55,TRIM55,TRIM55,TRIM55 EXON Missense_R451W,Silent,Silent,Missense_R451W exm703705 8 67066435 [A/G] NM_184085,NM_184086,NM_184087,NM_033058 TRIM55,TRIM55,TRIM55,TRIM55 EXON Missense_E464K,Silent,Silent,Missense_E464K exm703711 8 67066511 [T/C] NM_184085,NM_184086,NM_184087,NM_033058 TRIM55,TRIM55,TRIM55,TRIM55 EXON Missense_A489V,Silent,Silent,Missense_A489V exm703714 8 67066544 [T/C] NM_184085,NM_184086,NM_184087,NM_033058 TRIM55,TRIM55,TRIM55,TRIM55 EXON Missense_T500I,Silent,Silent,Missense_T500I exm2266633 8 67199420 [A/G] exm703743 8 67341394 [T/C] NM_015169 RRS1 EXON Missense_L10F exm703757 8 67341714 [G/C] NM_015169 RRS1 EXON Missense_Q116H exm703759 8 67341743 [A/G] NM_015169 RRS1 EXON Missense_K126R exm703763 8 67341890 [T/G] NM_015169 RRS1 EXON Missense_I175S exm703765 8 67341938 [T/G] NM_015169 RRS1 EXON Missense_R191L exm703771 8 67342085 [T/C] NM_015169 RRS1 EXON Missense_P240L exm703772 8 67342088 [A/G] NM_015169 RRS1 EXON Missense_K241R exm703777 8 67342165 [T/A] NM_015169 RRS1 EXON Missense_N267Y exm703778 8 67342186 [A/G] NM_015169 RRS1 EXON Missense_V274I exm703780 8 67342213 [G/C] NM_015169 RRS1 EXON Missense_D283H exm703781 8 67342252 [A/G] NM_015169 RRS1 EXON Missense_D296N exm703800 8 67344767 [T/C] NM_144650 ADHFE1 EXON Nonsense_R6X exm703812 8 67356627 [G/C] NM_144650 ADHFE1 EXON Missense_G57A exm703817 8 67356832 [G/C] NM_144650 ADHFE1 EXON Missense_L68V exm703822 8 67357484 [A/G] NM_144650 ADHFE1 EXON Missense_G129R exm703823 8 67357506 [A/C] NM_144650 ADHFE1 EXON Missense_A136D exm703827 8 67357622 [T/C] NM_144650 ADHFE1 EXON Missense_S175P exm703849 8 67369088 [G/C] NM_144650 ADHFE1 EXON Missense_K341N exm703858 8 67372555 [A/G] NM_144650 ADHFE1 EXON Missense_R392H exm703868 8 67380507 [A/G] NM_144650 ADHFE1 EXON Missense_R442G exm703869 8 67380528 [T/C] NM_144650 ADHFE1 EXON Missense_C449R exm703870 8 67380553 [G/C] NM_144650 ADHFE1 EXON Missense_A457G exm703919 8 67478328 [T/C] NM_001080416,NM_001144755 MYBL1,MYBL1 EXON Missense_K701E,Silent exm703920 8 67478376 [T/C] NM_001080416,NM_001144755 MYBL1,MYBL1 EXON Missense_N685D,Silent exm703923 8 67478431 [T/G] NM_001080416,NM_001144755 MYBL1,MYBL1 EXON Missense_E666D,Silent exm703938 8 67488288 [A/G] NM_001080416,NM_001144755 MYBL1,MYBL1 EXON Missense_A475V,Missense_A475V exm703941 8 67488388 [T/C] NM_001080416,NM_001144755 MYBL1,MYBL1 EXON Missense_T442A,Missense_T442A exm703949 8 67492375 [A/G] NM_001080416,NM_001144755 MYBL1,MYBL1 EXON Missense_I365T,Missense_I365T exm703954 8 67492533 [T/A] NM_001080416,NM_001144755 MYBL1,MYBL1 EXON Missense_N312K,Missense_N312K exm703958 8 67504769 [A/G] NM_001080416,NM_001144755 MYBL1,MYBL1 EXON Missense_I258T,Missense_I258T exm703961 8 67505363 [A/T] NM_001080416,NM_001144755 MYBL1,MYBL1 EXON Missense_F252I,Missense_F252I exm703965 8 67507915 [T/C] NM_001080416,NM_001144755 MYBL1,MYBL1 EXON Missense_G197E,Missense_G197E exm703995 8 67547031 [T/C] NM_025054 VCPIP1 EXON Missense_R1125Q exm703997 8 67547044 [A/C] NM_025054 VCPIP1 EXON Missense_D1121Y exm704004 8 67547272 [A/C] NM_025054 VCPIP1 EXON Missense_A1045S exm704006 8 67547298 [A/G] NM_025054 VCPIP1 EXON Missense_S1036F exm2247078 8 67576519 [A/T] NM_025054 VCPIP1 EXON Missense_E892V exm704018 8 67576622 [A/C] NM_025054 VCPIP1 EXON Missense_G858C exm2277371 8 67576901 [A/C] NM_025054 VCPIP1 EXON Missense_A765S exm704027 8 67576952 [A/G] NM_025054 VCPIP1 EXON Missense_P748S exm704033 8 67577140 [T/A] NM_025054 VCPIP1 EXON Missense_E685V exm704039 8 67577353 [T/C] NM_025054 VCPIP1 EXON Missense_S614N exm704077 8 67579186 [T/C] NM_025054 VCPIP1 EXON Missense_Q3R exm704080 8 67590022 [T/C] NM_001204173,NM_019607 C8orf44-SGK3,C8orf44 EXON Silent,Missense_R27W exm704102 8 67592025 [T/C] NM_001204173,NM_019607 C8orf44-SGK3,C8orf44 EXON Silent,Missense_S106P exm704105 8 67592101 [A/G] NM_001204173,NM_019607 C8orf44-SGK3,C8orf44 EXON Silent,Missense_Q131R exm704107 8 67592152 [T/C] NM_001204173,NM_019607 C8orf44-SGK3,C8orf44 EXON Silent,Missense_F148S exm704130 8 67734618 [C/G] NM_001204173,NM_001033578,NM_013257,NM_170709 C8orf44-SGK3,SGK3,SGK3,SGK3 EXON Missense_R114T,Missense_R114T,Missense_R114T,Missense_R114T exm2175324 8 67740937 [A/C] NM_001204173,NM_001033578,NM_013257,NM_170709 C8orf44-SGK3,SGK3,SGK3,SGK3 EXON Missense_H156N,Missense_H156N,Missense_H156N,Missense_H156N exm704137 8 67748269 [A/G] NM_001204173,NM_001033578,NM_013257,NM_170709 C8orf44-SGK3,SGK3,SGK3,SGK3 EXON Missense_E234G,Missense_E234G,Missense_E234G,Missense_E234G exm704155 8 67771662 [T/G] NM_001204173,NM_001033578,NM_013257,NM_170709 C8orf44-SGK3,SGK3,SGK3,SGK3 EXON Missense_I446S,Missense_I446S,Missense_I446S,Missense_I414S exm704157 8 67786401 [T/C] NM_173518,NM_001136161,NM_001136160 MCMDC2,MCMDC2,MCMDC2 EXON Missense_A9V,Missense_A9V,Missense_A9V exm704160 8 67786585 [A/G] NM_173518,NM_001136161,NM_001136160 MCMDC2,MCMDC2,MCMDC2 EXON Missense_Y40C,Missense_Y40C,Missense_Y40C exm704165 8 67786633 [T/C] NM_173518,NM_001136161,NM_001136160 MCMDC2,MCMDC2,MCMDC2 EXON Missense_A56V,Missense_A56V,Missense_A56V exm704173 8 67786817 [T/C] NM_173518,NM_001136161,NM_001136160 MCMDC2,MCMDC2,MCMDC2 EXON Missense_T94M,Missense_T94M,Missense_T94M exm704175 8 67789590 [A/G] NM_173518,NM_001136161,NM_001136160 MCMDC2,MCMDC2,MCMDC2 EXON Missense_I98V,Missense_I98V,Missense_I98V exm704176 8 67789687 [T/C] NM_173518,NM_001136161,NM_001136160 MCMDC2,MCMDC2,MCMDC2 EXON Missense_M130T,Missense_M130T,Missense_M130T exm704178 8 67789708 [A/T] NM_173518,NM_001136161,NM_001136160 MCMDC2,MCMDC2,MCMDC2 EXON Missense_M137K,Missense_M137K,Missense_M137K exm704188 8 67791088 [T/C] NM_173518,NM_001136161,NM_001136160 MCMDC2,MCMDC2,MCMDC2 EXON Missense_R215C,Missense_R215C,Missense_R215C exm704202 8 67796120 [G/C] NM_173518,NM_001136161,NM_001136160 MCMDC2,MCMDC2,MCMDC2 EXON Missense_L322V,Missense_L322V,Missense_L322V exm704203 8 67796144 [G/C] NM_173518,NM_001136161,NM_001136160 MCMDC2,MCMDC2,MCMDC2 EXON Missense_L330V,Missense_L330V,Missense_L330V exm704212 8 67803219 [T/G] NM_173518,NM_001136161,NM_001136160 MCMDC2,MCMDC2,MCMDC2 EXON Missense_G398V,Missense_G398V,Missense_G398V exm704214 8 67803295 [C/G] NM_173518,NM_001136161,NM_001136160 MCMDC2,MCMDC2,MCMDC2 EXON Missense_Q423H,Missense_Q423H,Missense_Q423H exm704219 8 67809094 [T/C] NM_173518,NM_001136161,NM_001136160 MCMDC2,MCMDC2,MCMDC2 EXON Missense_P509L,Missense_P509L,Missense_P509L exm704221 8 67809138 [T/C] NM_173518,NM_001136161,NM_001136160 MCMDC2,MCMDC2,MCMDC2 EXON Missense_P524S,Missense_P524S,Missense_P524S exm704234 8 67813581 [A/T] NM_173518,NM_001136161,NM_001136160 MCMDC2,MCMDC2,MCMDC2 EXON Nonsense_Y589X,Nonsense_Y589X,Nonsense_Y589X exm704236 8 67817462 [A/G] NM_173518,NM_001136160 MCMDC2,MCMDC2 EXON Missense_V591I,Missense_V591I exm704243 8 67860369 [T/C] NM_001193502 TCF24 EXON Missense_G141S exm704244 8 67900620 [A/G] NM_001013626 PPP1R42 EXON Missense_X229Q exm704250 8 67922949 [T/C] NM_001013626 PPP1R42 Silent exm704259 8 67926685 [G/C] NM_001013626 PPP1R42 EXON Missense_R91T exm2266737 8 67970243 [A/G] NM_006837 COPS5 Silent exm704313 8 67986575 [A/G] NM_024790 CSPP1 EXON Missense_M66V exm704314 8 67988721 [A/G] NM_024790 CSPP1 EXON Missense_K71R exm704337 8 68007676 [T/G] NM_024790 CSPP1 EXON Missense_R220L exm704339 8 68007717 [A/G] NM_024790 CSPP1 EXON Missense_E234K exm704342 8 68007817 [A/G] NM_024790 CSPP1 EXON Missense_R267K exm704343 8 68007859 [A/G] NM_024790 CSPP1 EXON Missense_R281Q exm704345 8 68007893 [T/G] NM_024790 CSPP1 EXON Missense_S292R exm704353 8 68015313 [A/G] NM_024790 CSPP1 EXON Missense_H331R exm2175449 8 68018178 [A/G] NM_024790 CSPP1 EXON Missense_D363G exm704370 8 68028252 [C/G] NM_024790 CSPP1 EXON Missense_S459C exm704376 8 68030542 [T/C] NM_024790 CSPP1 EXON Missense_P514L exm704384 8 68031034 [A/C] NM_024790 CSPP1 EXON Missense_H554N exm704386 8 68031052 [A/G] NM_024790 CSPP1 EXON Missense_V560I exm704397 8 68062171 [A/G] NM_024790 CSPP1 Silent exm2175462 8 68071314 [A/G] NM_024790 CSPP1 EXON Missense_Y822C exm704419 8 68074097 [A/C] NM_024790 CSPP1 EXON Missense_S859R exm704421 8 68074137 [A/G] NM_024790 CSPP1 EXON Missense_R872H exm704426 8 68076666 [A/C] NM_024790 CSPP1 EXON Missense_R912S exm704435 8 68087671 [A/G] NM_024790 CSPP1 EXON Missense_V1032I exm704445 8 68092129 [A/G] NM_024790 CSPP1 EXON Missense_N1058S exm704454 8 68102977 [T/C] NM_024790 CSPP1 EXON Missense_W1100R exm704458 8 68105792 [T/C] NM_024790 CSPP1 EXON Nonsense_R1137X exm704459 8 68105825 [T/C] NM_024790 CSPP1 EXON Missense_P1148S exm704460 8 68107640 [T/C] NM_024790 CSPP1 EXON Missense_P1160S exm704463 8 68107725 [T/C] NM_024790 CSPP1 EXON Missense_T1188M exm704474 8 68113722 [G/C] NM_006421 ARFGEF1 EXON Missense_E1749D exm704481 8 68115431 [T/C] NM_006421 ARFGEF1 EXON Missense_R1672H exm704482 8 68115462 [A/G] NM_006421 ARFGEF1 EXON Missense_R1662C exm704484 8 68115482 [T/C] NM_006421 ARFGEF1 EXON Missense_D1655G exm704498 8 68130265 [A/C] NM_006421 ARFGEF1 EXON Missense_A1483S exm704512 8 68138268 [T/C] NM_006421 ARFGEF1 EXON Missense_D1356G exm2175535 8 68163686 [T/C] NM_006421 ARFGEF1 Silent exm704550 8 68170395 [T/C] NM_006421 ARFGEF1 EXON Missense_R789H exm704580 8 68189653 [A/C] NM_006421 ARFGEF1 EXON Missense_G356V exm704584 8 68204111 [A/G] NM_006421 ARFGEF1 EXON Missense_T296I exm704596 8 68204314 [A/C] NM_006421 ARFGEF1 EXON Missense_H228Q exm704616 8 68214696 [A/T] NM_006421 ARFGEF1 EXON Missense_I44L exm704619 8 68255491 [A/G] NM_006421 ARFGEF1 EXON Missense_F11S exm2270870 8 68277883 [T/C] exm704629 8 68334782 [A/G] NM_020361 CPA6 EXON Missense_A424V exm704631 8 68334816 [A/G] NM_020361 CPA6 EXON Missense_L413F exm704642 8 68340332 [T/G] NM_020361 CPA6 EXON Missense_Q359P exm704654 8 68346382 [T/C] NM_020361 CPA6 EXON Missense_R311Q exm704658 8 68346398 [T/C] NM_020361 CPA6 EXON Missense_V306I exm704660 8 68396032 [A/G] NM_020361 CPA6 EXON Missense_A270V exm704661 8 68396042 [T/C] NM_020361 CPA6 EXON Missense_G267R exm704662 8 68396044 [A/C] NM_020361 CPA6 EXON Missense_R266L exm704665 8 68396082 [T/C] NM_020361 CPA6 EXON Nonsense_W253X exm704667 8 68396094 [T/C] NM_020361 CPA6 Silent exm704668 8 68396915 [T/C] NM_020361 CPA6 EXON Missense_N249S exm2258937 8 68396971 [T/C] NM_020361 CPA6 EXON Synonymous_L230L exm704675 8 68419039 [G/C] NM_020361 CPA6 EXON Missense_Q207E exm704678 8 68419077 [T/C] NM_020361 CPA6 EXON Missense_G194D exm704684 8 68421768 [G/C] NM_020361 CPA6 EXON Missense_S173C exm704685 8 68421781 [A/G] NM_020361 CPA6 EXON Missense_Y169H exm704690 8 68423834 [T/C] NM_020361 CPA6 EXON Missense_Q125R exm2270980 8 68454942 [T/C] NM_020361 CPA6 Silent exm-rs16933415 8 68497939 [T/C] NM_020361 CPA6 Silent exm704702 8 68536470 [A/G] NM_020361 CPA6 EXON Missense_F45L exm704722 8 68930106 [A/G] NM_025170,NM_024870 PREX2,PREX2 EXON Missense_C56Y,Missense_C56Y exm704732 8 68934284 [A/G] NM_025170,NM_024870 PREX2,PREX2 EXON Missense_R117H,Missense_R117H exm704743 8 68942817 [A/G] NM_025170,NM_024870 PREX2,PREX2 EXON Missense_N210S,Missense_N210S exm704746 8 68942876 [T/C] NM_025170,NM_024870 PREX2,PREX2 EXON Missense_H230Y,Missense_H230Y exm704758 8 68956816 [A/G] NM_025170,NM_024870 PREX2,PREX2 EXON Missense_D312N,Missense_D312N exm2175638 8 68956825 [A/G] NM_025170,NM_024870 PREX2,PREX2 EXON Missense_A315T,Missense_A315T exm704773 8 68972914 [T/C] NM_025170,NM_024870 PREX2,PREX2 EXON Synonymous_S413S,Synonymous_S413S exm704774 8 68972915 [A/G] NM_025170,NM_024870 PREX2,PREX2 EXON Missense_E414K,Missense_E414K exm704778 8 68972955 [A/G] NM_025170,NM_024870 PREX2,PREX2 EXON Missense_R427K,Missense_R427K exm704793 8 68984743 [T/C] NM_025170,NM_024870 PREX2,PREX2 EXON Missense_H503Y,Missense_H503Y exm704798 8 68989671 [A/G] NM_025170,NM_024870 PREX2,PREX2 EXON Missense_V537I,Missense_V537I exm704803 8 68992707 [C/G] NM_025170,NM_024870 PREX2,PREX2 EXON Missense_P558A,Missense_P558A exm704816 8 68999963 [T/G] NM_025170,NM_024870 PREX2,PREX2 EXON Missense_V678L,Missense_V678L exm704820 8 69002816 [A/T] NM_025170,NM_024870 PREX2,PREX2 EXON Missense_T706S,Missense_T706S exm704823 8 69002938 [T/G] NM_025170,NM_024870 PREX2,PREX2 EXON Missense_R746S,Missense_R746S exm704830 8 69005948 [A/G] NM_025170,NM_024870 PREX2,PREX2 EXON Missense_K787E,Missense_K787E exm704844 8 69012080 [T/C] NM_025170,NM_024870 PREX2,PREX2 Silent,Silent exm704859 8 69017551 [A/G] NM_025170,NM_024870 PREX2,PREX2 EXON Missense_D965G,Silent exm704860 8 69017584 [T/G] NM_025170,NM_024870 PREX2,PREX2 EXON Missense_R976M,Silent exm704866 8 69020351 [A/G] NM_024870 PREX2 EXON Missense_R908H exm2258939 8 69020496 [T/C] NM_024870 PREX2 EXON Synonymous_S956S exm704874 8 69020558 [T/C] NM_024870 PREX2 EXON Missense_S977L exm704877 8 69021683 [A/G] NM_024870 PREX2 EXON Missense_T991A exm704900 8 69033204 [A/G] NM_024870 PREX2 EXON Missense_R1215Q exm704901 8 69033212 [A/G] NM_024870 PREX2 EXON Missense_I1218V exm704902 8 69033248 [T/C] NM_024870 PREX2 EXON Missense_R1230W exm704903 8 69033249 [A/G] NM_024870 PREX2 EXON Missense_R1230Q exm704912 8 69046419 [T/A] NM_024870 PREX2 EXON Missense_M1298L exm704913 8 69046434 [A/G] NM_024870 PREX2 EXON Missense_A1303T exm704923 8 69058524 [C/G] NM_024870 PREX2 EXON Missense_Q1390E exm704924 8 69058536 [T/C] NM_024870 PREX2 EXON Missense_R1394W exm704933 8 69104582 [G/C] NM_024870 PREX2 EXON Missense_L1476V exm704935 8 69104619 [T/C] NM_024870 PREX2 EXON Missense_S1488L exm704937 8 69104645 [A/G] NM_024870 PREX2 EXON Missense_A1497T exm704962 8 69143588 [T/C] NM_024870 PREX2 EXON Missense_P1599L exm2258940 8 69347872 [A/G] NM_052958,NM_001195639 C8orf34,C8orf34 Silent,Silent exm704985 8 69380981 [A/G] NM_052958,NM_001195639 C8orf34,C8orf34 EXON Missense_R221H,Missense_R221H exm704986 8 69381053 [A/G] NM_052958,NM_001195639 C8orf34,C8orf34 EXON Missense_R245Q,Missense_R245Q exm704990 8 69400281 [A/G] NM_052958,NM_001195639 C8orf34,C8orf34 EXON Missense_D254N,Missense_D254N exm2270981 8 69429259 [T/C] NM_052958,NM_001195639 C8orf34,C8orf34 Silent,Silent exm704993 8 69434056 [C/G] NM_052958,NM_001195639 C8orf34,C8orf34 EXON Missense_S263C,Missense_S263C exm704995 8 69434070 [T/C] NM_052958,NM_001195639 C8orf34,C8orf34 EXON Missense_R268C,Missense_R268C exm705003 8 69552619 [A/G] NM_052958 C8orf34 EXON Missense_N372D exm705005 8 69552683 [A/G] NM_052958 C8orf34 EXON Missense_R393H exm705012 8 69621313 [T/C] NM_052958 C8orf34 EXON Synonymous_F442F exm705020 8 69699676 [A/C] NM_052958 C8orf34 Silent exm705022 8 69699756 [A/G] NM_052958 C8orf34 EXON Missense_A512T exm2270982 8 69815776 [T/C] exm2266635 8 70091974 [A/G] exm2266636 8 70281060 [A/G] exm-rs12546220 8 70373728 [T/C] exm705043 8 70488213 [A/C] NM_001128204,NM_015170,NM_001128205,NM_001128206 SULF1,SULF1,SULF1,SULF1 EXON Missense_Q61K,Missense_Q61K,Missense_Q61K,Missense_Q61K exm705052 8 70498593 [A/C] NM_001128204,NM_015170,NM_001128205,NM_001128206 SULF1,SULF1,SULF1,SULF1 EXON Synonymous_A138A,Synonymous_A138A,Synonymous_A138A,Synonymous_A138A exm705056 8 70498639 [G/C] NM_001128204,NM_015170,NM_001128205,NM_001128206 SULF1,SULF1,SULF1,SULF1 EXON Missense_P154A,Missense_P154A,Missense_P154A,Missense_P154A exm705060 8 70498702 [T/C] NM_001128204,NM_015170,NM_001128205,NM_001128206 SULF1,SULF1,SULF1,SULF1 EXON Missense_R175C,Missense_R175C,Missense_R175C,Missense_R175C exm705074 8 70514019 [A/G] NM_001128204,NM_015170,NM_001128205,NM_001128206 SULF1,SULF1,SULF1,SULF1 EXON Missense_R339H,Missense_R339H,Missense_R339H,Missense_R339H exm705078 8 70515440 [A/G] NM_001128204,NM_015170,NM_001128205,NM_001128206 SULF1,SULF1,SULF1,SULF1 EXON Missense_V359I,Missense_V359I,Missense_V359I,Missense_V359I exm705081 8 70515476 [A/G] NM_001128204,NM_015170,NM_001128205,NM_001128206 SULF1,SULF1,SULF1,SULF1 EXON Missense_I371V,Missense_I371V,Missense_I371V,Missense_I371V exm705094 8 70533284 [T/G] NM_001128204,NM_015170,NM_001128205,NM_001128206 SULF1,SULF1,SULF1,SULF1 EXON Missense_I464M,Missense_I464M,Missense_I464M,Missense_I464M exm705101 8 70533373 [T/C] NM_001128204,NM_015170,NM_001128205,NM_001128206 SULF1,SULF1,SULF1,SULF1 EXON Missense_A494V,Missense_A494V,Missense_A494V,Missense_A494V exm705102 8 70533375 [C/G] NM_001128204,NM_015170,NM_001128205,NM_001128206 SULF1,SULF1,SULF1,SULF1 EXON Missense_R495G,Missense_R495G,Missense_R495G,Missense_R495G exm705106 8 70533481 [T/C] NM_001128204,NM_015170,NM_001128205,NM_001128206 SULF1,SULF1,SULF1,SULF1 EXON Missense_T530I,Missense_T530I,Missense_T530I,Missense_T530I exm705108 8 70536177 [A/G] NM_001128204,NM_015170,NM_001128205,NM_001128206 SULF1,SULF1,SULF1,SULF1 EXON Missense_K532R,Missense_K532R,Missense_K532R,Missense_K532R exm705113 8 70536371 [A/G] NM_001128204,NM_015170,NM_001128205,NM_001128206 SULF1,SULF1,SULF1,SULF1 EXON Missense_R597G,Missense_R597G,Missense_R597G,Missense_R597G exm705127 8 70541825 [A/G] NM_001128204,NM_015170,NM_001128205,NM_001128206 SULF1,SULF1,SULF1,SULF1 EXON Missense_R732Q,Missense_R732Q,Missense_R732Q,Missense_R732Q exm705132 8 70550806 [T/C] NM_001128204,NM_015170,NM_001128205,NM_001128206 SULF1,SULF1,SULF1,SULF1 EXON Missense_T785M,Missense_T785M,Missense_T785M,Missense_T785M exm705134 8 70550982 [A/G] NM_001128204,NM_015170,NM_001128205,NM_001128206 SULF1,SULF1,SULF1,SULF1 EXON Missense_V814M,Missense_V814M,Missense_V814M,Missense_V814M exm705140 8 70551073 [A/G] NM_001128204,NM_015170,NM_001128205,NM_001128206 SULF1,SULF1,SULF1,SULF1 EXON Missense_R844K,Missense_R844K,Missense_R844K,Missense_R844K exm705148 8 70570741 [A/G] NM_001128204,NM_015170,NM_001128205,NM_001128206 SULF1,SULF1,SULF1,SULF1 EXON Missense_G863R,Missense_G863R,Missense_G863R,Missense_G863R exm2175831 8 70585153 [T/G] NM_001146009,NM_001146008,NM_030958 SLCO5A1,SLCO5A1,SLCO5A1 EXON Missense_A778E,Silent,Missense_A833E exm705161 8 70585265 [C/G] NM_001146009,NM_001146008,NM_030958 SLCO5A1,SLCO5A1,SLCO5A1 EXON Missense_P741A,Silent,Missense_P796A exm705168 8 70585324 [A/G] NM_001146009,NM_001146008,NM_030958 SLCO5A1,SLCO5A1,SLCO5A1 EXON Missense_P721L,Silent,Missense_P776L exm705169 8 70585325 [A/G] NM_001146009,NM_001146008,NM_030958 SLCO5A1,SLCO5A1,SLCO5A1 EXON Missense_P721S,Silent,Missense_P776S exm2247098 8 70585400 [T/C] NM_001146009,NM_001146008,NM_030958 SLCO5A1,SLCO5A1,SLCO5A1 EXON Missense_I696V,Silent,Missense_I751V exm2258943 8 70588878 [T/C] NM_001146009,NM_001146008,NM_030958 SLCO5A1,SLCO5A1,SLCO5A1 EXON Synonymous_A630A,Silent,Synonymous_A685A exm705180 8 70588878 [T/C] NM_001146009,NM_001146008,NM_030958 SLCO5A1,SLCO5A1,SLCO5A1 EXON Synonymous_A630A,Silent,Synonymous_A685A exm705192 8 70591785 [A/G] NM_001146009,NM_001146008,NM_030958 SLCO5A1,SLCO5A1,SLCO5A1 EXON Nonsense_R563X,Nonsense_R618X,Nonsense_R618X exm705193 8 70591794 [T/C] NM_001146009,NM_001146008,NM_030958 SLCO5A1,SLCO5A1,SLCO5A1 EXON Missense_V560M,Missense_V615M,Missense_V615M exm705195 8 70591817 [T/C] NM_001146009,NM_001146008,NM_030958 SLCO5A1,SLCO5A1,SLCO5A1 EXON Missense_R552H,Missense_R607H,Missense_R607H exm705196 8 70594420 [A/C] NM_001146009,NM_001146008,NM_030958 SLCO5A1,SLCO5A1,SLCO5A1 EXON Missense_G539V,Missense_G594V,Missense_G594V exm705207 8 70617424 [A/G] NM_001146009,NM_001146008,NM_030958 SLCO5A1,SLCO5A1,SLCO5A1 EXON Synonymous_L433L,Synonymous_L488L,Synonymous_L488L exm2258945 8 70617424 [A/G] NM_001146009,NM_001146008,NM_030958 SLCO5A1,SLCO5A1,SLCO5A1 EXON Synonymous_L433L,Synonymous_L488L,Synonymous_L488L exm705209 8 70617453 [T/C] NM_001146009,NM_001146008,NM_030958 SLCO5A1,SLCO5A1,SLCO5A1 EXON Missense_V424I,Missense_V479I,Missense_V479I exm705214 8 70650401 [T/C] NM_001146009,NM_001146008,NM_030958 SLCO5A1,SLCO5A1,SLCO5A1 EXON Silent,Missense_T433A,Missense_T433A exm705216 8 70667700 [T/C] NM_001146009,NM_001146008,NM_030958 SLCO5A1,SLCO5A1,SLCO5A1 EXON Missense_D406G,Missense_D406G,Missense_D406G exm705219 8 70667704 [T/C] NM_001146009,NM_001146008,NM_030958 SLCO5A1,SLCO5A1,SLCO5A1 EXON Missense_A405T,Missense_A405T,Missense_A405T exm705221 8 70667793 [T/C] NM_001146009,NM_001146008,NM_030958 SLCO5A1,SLCO5A1,SLCO5A1 EXON Missense_R375Q,Missense_R375Q,Missense_R375Q exm705222 8 70667845 [T/C] NM_001146009,NM_001146008,NM_030958 SLCO5A1,SLCO5A1,SLCO5A1 EXON Missense_M358V,Missense_M358V,Missense_M358V exm2175857 8 70674017 [A/G] NM_001146009,NM_001146008,NM_030958 SLCO5A1,SLCO5A1,SLCO5A1 EXON Missense_V334A,Missense_V334A,Missense_V334A exm-rs16936455 8 70724754 [A/G] NM_001146009,NM_001146008,NM_030958 SLCO5A1,SLCO5A1,SLCO5A1 Silent,Silent,Silent exm705242 8 70744167 [A/G] NM_001146009,NM_001146008,NM_030958 SLCO5A1,SLCO5A1,SLCO5A1 EXON Missense_P248S,Missense_P248S,Missense_P248S exm705246 8 70744210 [T/G] NM_001146009,NM_001146008,NM_030958 SLCO5A1,SLCO5A1,SLCO5A1 EXON Missense_N233K,Missense_N233K,Missense_N233K exm705247 8 70744224 [T/C] NM_001146009,NM_001146008,NM_030958 SLCO5A1,SLCO5A1,SLCO5A1 EXON Missense_A229T,Missense_A229T,Missense_A229T exm705257 8 70744581 [T/C] NM_001146009,NM_001146008,NM_030958 SLCO5A1,SLCO5A1,SLCO5A1 EXON Missense_A110T,Missense_A110T,Missense_A110T exm705264 8 70744676 [C/G] NM_001146009,NM_001146008,NM_030958 SLCO5A1,SLCO5A1,SLCO5A1 EXON Missense_P78R,Missense_P78R,Missense_P78R exm705271 8 70744812 [A/G] NM_001146009,NM_001146008,NM_030958 SLCO5A1,SLCO5A1,SLCO5A1 EXON Missense_L33F,Missense_L33F,Missense_L33F exm705275 8 70744856 [A/G] NM_001146009,NM_001146008,NM_030958 SLCO5A1,SLCO5A1,SLCO5A1 EXON Missense_P18L,Missense_P18L,Missense_P18L exm2266738 8 70799045 [A/G] exm705307 8 70980738 [T/C] NM_024504 PRDM14 EXON Missense_K244E exm705311 8 70981442 [C/G] NM_024504 PRDM14 EXON Missense_S218R exm2175891 8 70981501 [T/C] NM_024504 PRDM14 EXON Missense_E199K exm705314 8 70981539 [T/C] NM_024504 PRDM14 EXON Missense_N186S exm705316 8 70981630 [T/C] NM_024504 PRDM14 EXON Missense_D156N exm705321 8 70981780 [C/G] NM_024504 PRDM14 EXON Missense_H106D exm705328 8 70981938 [A/C] NM_024504 PRDM14 EXON Missense_F53C exm-rs1106334 8 71012811 [A/G] exm2175903 8 71033556 [T/C] NM_006540 NCOA2 EXON Missense_Q1455R exm705340 8 71033566 [T/C] NM_006540 NCOA2 EXON Missense_M1452V exm705346 8 71036240 [T/C] NM_006540 NCOA2 EXON Missense_N1391S exm705349 8 71036930 [T/C] NM_006540 NCOA2 EXON Missense_G1363R exm705364 8 71040714 [T/C] NM_006540 NCOA2 EXON Missense_N1212S exm705368 8 71041031 [A/G] NM_006540 NCOA2 EXON Missense_M1170T exm705371 8 71041076 [T/C] NM_006540 NCOA2 EXON Missense_N1155S exm705377 8 71044232 [A/G] NM_006540 NCOA2 EXON Missense_P1055L exm705381 8 71050525 [T/C] NM_006540 NCOA2 EXON Missense_S1024N exm705394 8 71053571 [A/G] NM_006540 NCOA2 EXON Missense_S959L exm705397 8 71053610 [T/C] NM_006540 NCOA2 EXON Missense_R946Q exm705403 8 71057068 [T/C] NM_006540 NCOA2 EXON Missense_R874Q exm705405 8 71060641 [T/G] NM_006540 NCOA2 EXON Missense_D824E exm705415 8 71068582 [C/G] NM_006540 NCOA2 EXON Missense_P673R exm705422 8 71068718 [T/C] NM_006540 NCOA2 EXON Missense_G628R exm705441 8 71069253 [T/A] NM_006540 NCOA2 EXON Missense_H449Q exm705445 8 71069321 [T/C] NM_006540 NCOA2 EXON Missense_I427V exm2175949 8 71069365 [T/G] NM_006540 NCOA2 EXON Missense_N412T exm705447 8 71069381 [A/C] NM_006540 NCOA2 EXON Missense_A407S exm705454 8 71071794 [T/C] NM_006540 NCOA2 EXON Missense_R357H exm705464 8 71078874 [T/G] NM_006540 NCOA2 EXON Missense_E219D exm705476 8 71126151 [C/G] NM_006540 NCOA2 EXON Missense_Q82H exm705480 8 71126297 [T/C] NM_006540 NCOA2 EXON Missense_T34A exm705481 8 71128902 [T/C] NM_006540 NCOA2 EXON Missense_G27R exm2270983 8 71164680 [T/G] NM_006540 NCOA2 Silent exm-rs16936922 8 71239363 [T/C] NM_006540 NCOA2 Silent exm705490 8 71495534 [T/C] NM_014294 TRAM1 EXON Missense_V306I exm705496 8 71495984 [A/G] NM_014294 TRAM1 EXON Missense_T264I exm705501 8 71499170 [A/C] NM_014294 TRAM1 EXON Missense_S236A exm705503 8 71499215 [C/G] NM_014294 TRAM1 EXON Missense_V221L exm2247106 8 71506803 [T/C] NM_014294 TRAM1 EXON Missense_I170V exm705511 8 71508534 [A/G] NM_014294 TRAM1 EXON Missense_T150I exm705512 8 71508553 [T/C] NM_014294 TRAM1 EXON Missense_N144D exm2175994 8 71512315 [T/A] NM_014294 TRAM1 EXON Synonymous_I42I exm2258948 8 71520327 [T/C] NM_014294 TRAM1 EXON Synonymous_L36L exm705530 8 71520409 [T/C] NM_014294 TRAM1 EXON Missense_K9R exm2258949 8 71528012 [T/C] NR_038881 LOC286190 Silent exm705538 8 71553219 [T/C] NR_038881,NM_016027 LOC286190,LACTB2 EXON Silent,Missense_R220Q exm705549 8 71570087 [T/C] NR_038881,NM_016027 LOC286190,LACTB2 EXON Silent,Missense_R106Q exm705554 8 71574035 [T/C] NR_038881,NM_016027 LOC286190,LACTB2 EXON Silent,Missense_V74I exm705574 8 71593497 [C/G] NM_001011720 XKR9 EXON Missense_K68N exm705576 8 71619168 [T/G] NM_001011720 XKR9 EXON Missense_R91S exm705583 8 71619235 [T/G] NM_001011720 XKR9 EXON Missense_V114L exm705586 8 71619256 [T/C] NM_001011720 XKR9 EXON Missense_H121Y exm705590 8 71619321 [A/T] NM_001011720 XKR9 EXON Missense_E142D exm705592 8 71619374 [T/C] NM_001011720 XKR9 EXON Missense_A160V exm705597 8 71646036 [A/G] NM_001011720 XKR9 EXON Missense_A167T exm2176018 8 71646084 [T/C] NM_001011720 XKR9 EXON Nonsense_Q183X exm705602 8 71646112 [T/A] NM_001011720 XKR9 EXON Missense_D192V exm705605 8 71646136 [A/G] NM_001011720 XKR9 EXON Missense_C200Y exm2276873 8 71646185 [A/G] NM_001011720 XKR9 EXON Nonsense_W216X exm705609 8 71646188 [A/G] NM_001011720 XKR9 EXON Missense_M217I exm705611 8 71646199 [T/C] NM_001011720 XKR9 EXON Missense_V221A exm705612 8 71646201 [T/C] NM_001011720 XKR9 EXON Missense_L222F exm705613 8 71646212 [A/C] NM_001011720 XKR9 EXON Missense_F225L exm705625 8 71646361 [T/A] NM_001011720 XKR9 EXON Missense_F275Y exm705628 8 71646414 [C/G] NM_001011720 XKR9 EXON Missense_V293L exm705633 8 71646504 [A/G] NM_001011720 XKR9 EXON Missense_I323V exm705638 8 71646625 [C/G] NM_001011720 XKR9 EXON Missense_R363T exm-rs4738101 8 71676339 [A/G] exm2262523 8 72089631 [A/G] exm705661 8 72127864 [A/G] NM_000503,NM_172059,NM_172060,NM_172058 EYA1,EYA1,EYA1,EYA1 EXON Missense_S487L,Missense_S452L,Missense_S454L,Missense_S487L exm2258950 8 72180634 [A/G] NM_000503,NM_172059,NM_172060,NM_172058 EYA1,EYA1,EYA1,EYA1 Silent,Silent,Silent,Silent exm705678 8 72184069 [T/C] NM_000503,NM_172059,NM_172060,NM_172058 EYA1,EYA1,EYA1,EYA1 EXON Missense_R297Q,Missense_R292Q,Missense_R264Q,Missense_R297Q exm705679 8 72184072 [T/C] NM_000503,NM_172059,NM_172060,NM_172058 EYA1,EYA1,EYA1,EYA1 EXON Missense_R296H,Missense_R291H,Missense_R263H,Missense_R296H exm705681 8 72184075 [A/G] NM_000503,NM_172059,NM_172060,NM_172058 EYA1,EYA1,EYA1,EYA1 EXON Missense_L295S,Missense_L290S,Missense_L262S,Missense_L295S exm705689 8 72211326 [A/G] NM_000503,NM_172059,NM_172060,NM_172058 EYA1,EYA1,EYA1,EYA1 EXON Missense_P261L,Missense_P256L,Missense_P228L,Missense_P261L exm705725 8 72246370 [A/G] NM_000503,NM_172059,NM_172060,NM_172058 EYA1,EYA1,EYA1,EYA1 EXON Missense_T55M,Missense_T55M,Missense_T22M,Missense_T55M exm-rs2218488 8 72263956 [T/C] NM_000503,NM_172059,NM_172060,NM_172058 EYA1,EYA1,EYA1,EYA1 Silent,Silent,Silent,Silent exm705730 8 72267065 [T/C] NM_000503,NM_172059,NM_172060,NM_172058 EYA1,EYA1,EYA1,EYA1 EXON Missense_G26S,Missense_G26S,Silent,Missense_G26S exm705732 8 72267083 [G/C] NM_000503,NM_172059,NM_172060,NM_172058 EYA1,EYA1,EYA1,EYA1 EXON Missense_P20A,Missense_P20A,Silent,Missense_P20A exm2264316 8 72480992 [A/C] exm-rs16937689 8 72517499 [T/C] exm2266639 8 72597645 [A/G] exm705744 8 72756119 [T/C] NM_005098,NR_033652 MSC,LOC100132891 EXON Missense_G99S,Silent exm705750 8 72756331 [T/C] NM_005098,NR_033652 MSC,LOC100132891 EXON Missense_R28K,Silent exm2176084 8 72935249 [A/C] NR_033652,NR_033651,NM_007332 LOC100132891,LOC100132891,TRPA1 EXON Silent,Silent,Missense_H1084Q exm705770 8 72936145 [T/C] NR_033652,NR_033651,NM_007332 LOC100132891,LOC100132891,TRPA1 EXON Silent,Silent,Missense_H1018R exm705773 8 72938226 [A/G] NR_033652,NR_033651,NM_007332 LOC100132891,LOC100132891,TRPA1 EXON Silent,Silent,Missense_P1007L exm705787 8 72945992 [A/G] NR_033652,NR_033651,NM_007332 LOC100132891,LOC100132891,TRPA1 EXON Silent,Silent,Nonsense_R919X exm705814 8 72958809 [A/G] NR_033652,NR_033651,NM_007332 LOC100132891,LOC100132891,TRPA1 EXON Silent,Silent,Missense_L667S exm705816 8 72959383 [A/G] NR_033652,NR_033651,NM_007332 LOC100132891,LOC100132891,TRPA1 EXON Silent,Silent,Synonymous_Y655Y exm705817 8 72959394 [A/G] NR_033652,NR_033651,NM_007332 LOC100132891,LOC100132891,TRPA1 EXON Silent,Silent,Nonsense_R652X exm705819 8 72963040 [T/C] NR_033652,NR_033651,NM_007332 LOC100132891,LOC100132891,TRPA1 EXON Silent,Silent,Missense_M626I exm705830 8 72964951 [A/G] NR_033652,NR_033651,NM_007332 LOC100132891,LOC100132891,TRPA1 EXON Silent,Silent,Missense_A565V exm705853 8 72969228 [A/T] NM_007332 TRPA1 EXON Missense_N373I exm705864 8 72973909 [T/C] NM_007332 TRPA1 EXON Missense_V299M exm705881 8 72975801 [T/G] NM_007332 TRPA1 EXON Missense_K186N exm705882 8 72977703 [T/C] NM_007332 TRPA1 EXON Missense_E179K exm705884 8 72977723 [A/G] NM_007332 TRPA1 EXON Missense_A172V exm-rs7824377 8 72978593 [T/C] NM_007332 TRPA1 Silent exm705888 8 72981313 [T/A] NM_007332 TRPA1 EXON Missense_N130I exm705892 8 72981337 [A/G] NM_007332 TRPA1 EXON Missense_A122V exm705894 8 72981350 [G/C] NM_007332 TRPA1 EXON Missense_L118V exm705895 8 72981358 [T/C] NM_007332 TRPA1 EXON Missense_K115R exm705896 8 72981362 [T/C] NM_007332 TRPA1 EXON Missense_V114I exm705907 8 72984041 [G/C] NM_007332 TRPA1 EXON Missense_R58T exm705916 8 72987638 [A/G] NM_007332 TRPA1 EXON Missense_R3C exm-rs1963982 8 73106916 [A/G] exm-rs2116078 8 73363989 [T/G] exm2266641 8 73379450 [A/G] exm2270984 8 73425180 [T/C] exm-rs2247572 8 73633028 [T/C] NM_004770 KCNB2 Silent exm-rs10504543 8 73778642 [A/G] NM_004770 KCNB2 Silent exm705946 8 73848450 [A/G] NM_004770 KCNB2 EXON Missense_N287S exm705966 8 73849256 [T/C] NM_004770 KCNB2 EXON Missense_P556S exm705970 8 73849332 [A/G] NM_004770 KCNB2 EXON Missense_C581Y exm705989 8 73849653 [A/G] NM_004770 KCNB2 EXON Missense_H688R exm705990 8 73849656 [A/G] NM_004770 KCNB2 EXON Missense_S689N exm705993 8 73849760 [A/G] NM_004770 KCNB2 EXON Missense_G724S exm706004 8 73850157 [T/C] NM_004770 KCNB2 EXON Missense_P856L exm706036 8 73934526 [A/G] NM_017489,NM_003218 TERF1,TERF1 EXON Missense_N205D,Missense_N205D exm706037 8 73934530 [A/C] NM_017489,NM_003218 TERF1,TERF1 EXON Missense_S206Y,Missense_S206Y exm2258953 8 73937176 [A/G] NM_017489,NM_003218 TERF1,TERF1 EXON Synonymous_L248L,Synonymous_L248L exm706045 8 73944331 [A/C] NM_017489,NM_003218 TERF1,TERF1 EXON Missense_D334E,Missense_D314E exm706049 8 73951417 [T/C] NM_017489,NM_003218 TERF1,TERF1 EXON Missense_P369L,Missense_P349L exm2270985 8 73963866 [T/G] exm706062 8 73979655 [A/C] NM_153225 SBSPON EXON Missense_R239L exm706068 8 73982130 [T/C] NM_153225 SBSPON EXON Missense_R196Q exm706069 8 73982161 [A/G] NM_153225 SBSPON EXON Missense_W186R exm706071 8 73982215 [T/A] NM_153225 SBSPON EXON Missense_Y168N exm706078 8 73984100 [T/C] NM_153225 SBSPON EXON Missense_A139T exm706079 8 73984105 [A/T] NM_153225 SBSPON EXON Missense_V137D exm2176234 8 73993283 [A/G] NM_153225 SBSPON EXON Missense_P127L exm706087 8 73993341 [T/C] NM_153225 SBSPON EXON Missense_G108S exm706089 8 73993374 [A/G] NM_153225 SBSPON EXON Missense_R97W exm2247119 8 73993382 [A/G] NM_153225 SBSPON EXON Missense_T94I exm706093 8 74005131 [A/G] NM_153225 SBSPON EXON Missense_F58L exm2270873 8 74042887 [T/C] exm2176260 8 74205841 [C/G] NM_000971 RPL7 EXON Missense_G3R exm2258956 8 74207734 [T/G] NM_172037 RDH10 EXON Synonymous_T70T exm706154 8 74209461 [T/G] NM_172037 RDH10 EXON Missense_C108G exm2247122 8 74235174 [C/G] NM_172037 RDH10 EXON Missense_C310S exm706169 8 74235237 [A/C] NM_172037 RDH10 EXON Missense_A331D exm-rs12679254 8 74274191 [T/C] exm706174 8 74333676 [T/A] NR_038406,NM_001164383,NM_001164382,NM_001164381,NM_001164380 STAU2-AS1,STAU2,STAU2,STAU2,STAU2 EXON Silent,Missense_K376N,Missense_K482N,Missense_K516N,Missense_K548N exm706176 8 74334889 [T/G] NR_038406,NM_001164383,NM_001164382,NM_001164381,NM_001164380 STAU2-AS1,STAU2,STAU2,STAU2,STAU2 EXON Silent,Missense_I355L,Missense_I461L,Missense_I495L,Missense_I527L exm706178 8 74334931 [A/C] NR_038406,NM_001164383,NM_001164382,NM_001164381,NM_001164380 STAU2-AS1,STAU2,STAU2,STAU2,STAU2 EXON Silent,Missense_L341V,Missense_L447V,Missense_L481V,Missense_L513V exm2258958 8 74426588 [A/C] NM_001164383,NM_001164382,NM_001164381,NM_001164380 STAU2,STAU2,STAU2,STAU2 Silent,Silent,Silent,Silent exm706196 8 74507522 [A/C] NM_001164383,NM_001164382,NM_001164381,NM_001164380,NM_001164385,NM_001164384,NM_014393 STAU2,STAU2,STAU2,STAU2,STAU2,STAU2,STAU2 EXON Missense_G175V,Missense_G243V,Missense_G315V,Missense_G347V,Missense_G309V,Missense_G315V,Missense_G315V exm706210 8 74527996 [T/C] NM_001164383,NM_001164382,NM_001164381,NM_001164380,NM_001164385,NM_001164384,NM_014393 STAU2,STAU2,STAU2,STAU2,STAU2,STAU2,STAU2 EXON Missense_V26M,Missense_V94M,Missense_V166M,Missense_V198M,Missense_V160M,Missense_V166M,Missense_V166M exm706217 8 74600942 [A/G] NM_001164383,NM_001164382,NM_001164381,NM_001164380,NM_001164385,NM_001164384,NM_014393 STAU2,STAU2,STAU2,STAU2,STAU2,STAU2,STAU2 EXON Silent,Silent,Missense_T42M,Missense_T74M,Missense_T36M,Missense_T42M,Missense_T42M exm2266740 8 74829717 [A/G] exm706260 8 74888585 [T/G] NM_001040613,NM_017866,NR_033334 TMEM70,TMEM70,TMEM70 EXON Missense_L23F,Missense_L23F,Silent exm706277 8 74893388 [A/G] NM_001040613,NM_017866,NR_033334 TMEM70,TMEM70,TMEM70 Silent,Silent,Silent exm706279 8 74893419 [G/C] NM_001040613,NM_017866,NR_033334 TMEM70,TMEM70,TMEM70 EXON Silent,Missense_L116V,Silent exm706283 8 74893452 [A/G] NM_001040613,NM_017866,NR_033334 TMEM70,TMEM70,TMEM70 EXON Silent,Missense_T127A,Silent exm706288 8 74893528 [T/C] NM_001040613,NM_017866,NR_033334 TMEM70,TMEM70,TMEM70 EXON Silent,Missense_T152M,Silent exm706295 8 74893653 [A/G] NM_001040613,NM_017866,NR_033334 TMEM70,TMEM70,TMEM70 EXON Silent,Missense_V194M,Silent exm706299 8 74893757 [C/G] NM_001040613,NM_017866,NR_033334 TMEM70,TMEM70,TMEM70 EXON Silent,Missense_N228K,Silent exm706302 8 74893821 [A/G] NM_001040613,NM_017866,NR_033334 TMEM70,TMEM70,TMEM70 EXON Silent,Missense_T250A,Silent exm706303 8 74893837 [A/G] NM_001040613,NM_017866,NR_033334 TMEM70,TMEM70,TMEM70 EXON Silent,Missense_R255Q,Silent exm706304 8 74893842 [T/A] NM_001040613,NM_017866,NR_033334 TMEM70,TMEM70,TMEM70 EXON Silent,Nonsense_K257X,Silent exm706306 8 74893850 [G/C] NM_001040613,NM_017866,NR_033334 TMEM70,TMEM70,TMEM70 EXON Silent,Missense_D259E,Silent exm706312 8 74917084 [A/G] NM_015364,NM_001195797 LY96,LY96 EXON Missense_R56G,Silent exm706315 8 74922320 [A/G] NM_015364,NM_001195797 LY96,LY96 EXON Missense_R96Q,Missense_R66Q exm706325 8 74941231 [T/C] NM_015364,NM_001195797 LY96,LY96 EXON Missense_P142L,Missense_P112L exm706327 8 74941275 [T/C] NM_015364,NM_001195797 LY96,LY96 EXON Missense_P157S,Missense_P127S exm706328 8 74941306 [A/C] NM_015364,NM_001195797 LY96,LY96 EXON Silent,Silent exm2266642 8 75014430 [A/G] exm706333 8 75156768 [T/C] NM_020647 JPH1 EXON Missense_N634S exm706334 8 75156799 [C/G] NM_020647 JPH1 EXON Missense_D624H exm706341 8 75156913 [T/C] NM_020647 JPH1 EXON Missense_A586T exm706346 8 75157006 [T/C] NM_020647 JPH1 EXON Missense_V555M exm706347 8 75157023 [T/C] NM_020647 JPH1 EXON Missense_Q549R exm706348 8 75157039 [T/C] NM_020647 JPH1 EXON Missense_G544R exm706351 8 75157093 [T/C] NM_020647 JPH1 EXON Missense_V526I exm706353 8 75157102 [G/C] NM_020647 JPH1 EXON Missense_A523P exm706354 8 75157110 [A/G] NM_020647 JPH1 EXON Missense_T520M exm706356 8 75157149 [A/G] NM_020647 JPH1 EXON Missense_T507M exm706366 8 75157347 [T/C] NM_020647 JPH1 EXON Missense_K441R exm706369 8 75157399 [T/C] NM_020647 JPH1 EXON Missense_V424I exm2266643 8 75217116 [A/G] NM_020647 JPH1 Silent exm706389 8 75227486 [A/G] NM_020647 JPH1 EXON Missense_S250F exm706393 8 75227537 [G/C] NM_020647 JPH1 EXON Missense_S233W exm706399 8 75227675 [T/G] NM_020647 JPH1 EXON Missense_A187D exm706443 8 75272460 [A/G] NR_046346,NM_018972,NM_001040875 GDAP1,GDAP1,GDAP1 EXON Silent,Missense_M133I,Missense_M65I exm706449 8 75274190 [A/G] NR_046346,NM_018972,NM_001040875 GDAP1,GDAP1,GDAP1 EXON Silent,Missense_I186V,Missense_I118V exm706450 8 75274208 [A/C] NR_046346,NM_018972,NM_001040875 GDAP1,GDAP1,GDAP1 EXON Silent,Missense_L192I,Missense_L124I exm706454 8 75275287 [T/A] NR_046346,NM_018972,NM_001040875 GDAP1,GDAP1,GDAP1 EXON Silent,Synonymous_P231P,Synonymous_P163P exm706462 8 75276342 [T/C] NR_046346,NM_018972,NM_001040875 GDAP1,GDAP1,GDAP1 EXON Silent,Nonsense_R273X,Nonsense_R205X exm706468 8 75276490 [T/C] NR_046346,NM_018972,NM_001040875 GDAP1,GDAP1,GDAP1 EXON Silent,Missense_T322M,Missense_T254M exm-rs4471028 8 75294975 [T/G] exm-rs6472866 8 75513134 [T/C] NR_033830 FLJ39080 Silent exm706475 8 75737503 [A/G] NM_015886 PI15 EXON Missense_V7I exm706478 8 75737557 [T/C] NM_015886 PI15 EXON Missense_L25F exm706483 8 75737657 [A/G] NM_015886 PI15 EXON Missense_R58Q exm706485 8 75737689 [A/G] NM_015886 PI15 EXON Missense_A69T exm706494 8 75757392 [T/C] NM_015886 PI15 EXON Missense_P141L exm706498 8 75757618 [T/C] NM_015886 PI15 EXON Missense_M176T exm2270874 8 75792274 [T/C] exm2262528 8 75840531 [T/C] exm706514 8 75898315 [A/C] NM_031461 CRISPLD1 EXON Missense_L31F exm706533 8 75926249 [A/G] NM_031461 CRISPLD1 EXON Missense_G180S exm706534 8 75926254 [T/G] NM_031461 CRISPLD1 EXON Missense_C181W exm706542 8 75927144 [A/C] NM_031461 CRISPLD1 EXON Missense_K242Q exm2176412 8 75928854 [A/G] NM_031461 CRISPLD1 EXON Missense_R261Q exm706549 8 75928928 [T/G] NM_031461 CRISPLD1 EXON Missense_A286S exm706556 8 75929305 [T/G] NM_031461 CRISPLD1 EXON Missense_L318W exm706560 8 75929615 [A/G] NM_031461 CRISPLD1 EXON Missense_V353I exm706566 8 75937794 [T/C] NM_031461 CRISPLD1 EXON Missense_R420C exm706567 8 75937795 [A/G] NM_031461 CRISPLD1 EXON Missense_R420H exm706568 8 75937825 [G/C] NM_031461 CRISPLD1 EXON Missense_A430G exm706572 8 75941631 [A/G] NM_031461 CRISPLD1 EXON Missense_I444V exm706573 8 75941664 [T/C] NM_031461 CRISPLD1 EXON Nonsense_R455X exm2270875 8 76051610 [T/C] exm-rs16939046 8 76147954 [T/C] exm706586 8 76452313 [A/G] NM_004133 HNF4G EXON Missense_S29N exm706612 8 76468282 [A/G] NM_004133 HNF4G EXON Missense_M227I exm706617 8 76470800 [T/C] NM_004133 HNF4G EXON Missense_R251C exm706620 8 76471050 [A/C] NM_004133 HNF4G EXON Missense_S291R exm706626 8 76471246 [A/G] NM_004133 HNF4G EXON Missense_N356S exm706630 8 76472597 [G/C] NM_004133 HNF4G EXON Missense_S371T exm706635 8 76472634 [A/T] NM_004133 HNF4G EXON Missense_Q383H exm2258964 8 76476229 [T/C] NM_004133 HNF4G EXON Synonymous_L412L exm706643 8 76476256 [A/T] NM_004133 HNF4G EXON Missense_Q421H exm2262529 8 76565553 [T/C] exm2258965 8 76776862 [A/G] exm2266741 8 77258843 [A/G] exm2266645 8 77402921 [A/G] exm706654 8 77616519 [G/C] NM_024721 ZFHX4 EXON Missense_V66L exm706664 8 77616813 [A/G] NM_024721 ZFHX4 EXON Missense_A164T exm706684 8 77617500 [C/G] NM_024721 ZFHX4 EXON Missense_E393Q exm706696 8 77617798 [T/C] NM_024721 ZFHX4 EXON Missense_T492I exm706719 8 77618575 [C/G] NM_024721 ZFHX4 EXON Missense_S751T exm706735 8 77620044 [A/G] NM_024721 ZFHX4 EXON Missense_T952A exm706761 8 77690630 [T/C] NM_024721 ZFHX4 EXON Missense_L1094F exm706772 8 77761269 [C/G] NM_024721 ZFHX4 EXON Missense_A1184P exm706776 8 77761362 [C/G] NM_024721 ZFHX4 EXON Missense_Q1215E exm706779 8 77761824 [T/C] NM_024721 ZFHX4 EXON Missense_S1241L exm706786 8 77761919 [T/C] NM_024721 ZFHX4 EXON Missense_P1273S exm706797 8 77763248 [T/G] NM_024721 ZFHX4 EXON Missense_S1364I exm2247134 8 77763550 [A/G] NM_024721 ZFHX4 EXON Missense_V1465M exm706809 8 77763592 [G/C] NM_024721 ZFHX4 EXON Missense_D1479H exm2247135 8 77763628 [T/C] NM_024721 ZFHX4 EXON Missense_Y1491H exm706812 8 77763857 [A/G] NM_024721 ZFHX4 EXON Missense_H1567R exm706822 8 77764073 [T/C] NM_024721 ZFHX4 EXON Missense_A1639V exm706831 8 77764207 [A/G] NM_024721 ZFHX4 EXON Missense_A1684T exm706840 8 77764484 [A/G] NM_024721 ZFHX4 EXON Missense_E1776G exm706842 8 77764519 [A/G] NM_024721 ZFHX4 EXON Missense_V1788I exm706845 8 77764739 [T/G] NM_024721 ZFHX4 EXON Missense_I1861S exm706854 8 77765086 [T/G] NM_024721 ZFHX4 EXON Missense_A1977S exm706896 8 77766143 [T/C] NM_024721 ZFHX4 EXON Missense_T2329M exm706901 8 77766266 [T/C] NM_024721 ZFHX4 EXON Missense_T2370M exm706903 8 77766302 [A/G] NM_024721 ZFHX4 EXON Missense_S2382N exm706906 8 77766451 [A/G] NM_024721 ZFHX4 EXON Missense_A2432T exm706910 8 77766563 [T/C] NM_024721 ZFHX4 EXON Missense_P2469L exm706911 8 77766594 [A/G] NM_024721 ZFHX4 EXON Missense_M2479I exm706913 8 77766676 [T/C] NM_024721 ZFHX4 EXON Missense_L2507F exm706914 8 77766749 [A/G] NM_024721 ZFHX4 EXON Missense_R2531K exm706959 8 77768204 [A/T] NM_024721 ZFHX4 EXON Missense_Y3016F exm706962 8 77768332 [A/G] NM_024721 ZFHX4 EXON Missense_M3059V exm706965 8 77768390 [T/G] NM_024721 ZFHX4 EXON Missense_V3078G exm706970 8 77768498 [A/G] NM_024721 ZFHX4 EXON Missense_G3114D exm706971 8 77768512 [A/C] NM_024721 ZFHX4 EXON Missense_P3119T exm706972 8 77775350 [A/G] NM_024721 ZFHX4 EXON Missense_G3134S exm2258968 8 77775472 [T/A] NM_024721 ZFHX4 EXON Synonymous_S3174S exm706986 8 77775651 [A/G] NM_024721 ZFHX4 EXON Missense_G3234D exm706989 8 77775671 [A/G] NM_024721 ZFHX4 EXON Missense_I3241V exm2176525 8 77776413 [G/C] NM_024721 ZFHX4 EXON Missense_R3488T exm707021 8 77776491 [C/G] NM_024721 ZFHX4 EXON Missense_T3514S exm2266646 8 77785447 [A/G] exm707037 8 77895682 [T/C] NM_001079867,NM_000318,NM_001172087,NM_001172086 PEX2,PEX2,PEX2,PEX2 EXON Missense_A245T,Missense_A245T,Missense_A245T,Missense_A245T exm707040 8 77895717 [T/C] NM_001079867,NM_000318,NM_001172087,NM_001172086 PEX2,PEX2,PEX2,PEX2 EXON Missense_S233N,Missense_S233N,Missense_S233N,Missense_S233N exm707048 8 77895865 [A/G] NM_001079867,NM_000318,NM_001172087,NM_001172086 PEX2,PEX2,PEX2,PEX2 EXON Missense_C184R,Missense_C184R,Missense_C184R,Missense_C184R exm707059 8 77896060 [A/G] NM_001079867,NM_000318,NM_001172087,NM_001172086 PEX2,PEX2,PEX2,PEX2 EXON Nonsense_R119X,Nonsense_R119X,Nonsense_R119X,Nonsense_R119X exm707061 8 77896111 [T/G] NM_001079867,NM_000318,NM_001172087,NM_001172086 PEX2,PEX2,PEX2,PEX2 EXON Missense_Q102K,Missense_Q102K,Missense_Q102K,Missense_Q102K exm707066 8 77896206 [T/C] NM_001079867,NM_000318,NM_001172087,NM_001172086 PEX2,PEX2,PEX2,PEX2 EXON Missense_Y70C,Missense_Y70C,Missense_Y70C,Missense_Y70C exm-rs7821178 8 78093837 [A/C] exm2270988 8 78095409 [T/C] exm-rs7846385 8 78160179 [T/C] exm-rs6473015 8 78178485 [A/C] exm2270876 8 78530715 [T/C] exm-rs3864663 8 78680349 [T/C] exm2262533 8 78861595 [A/C] exm2270877 8 78990829 [T/C] exm2266647 8 79417222 [A/G] exm707083 8 79578393 [A/C] NM_016010 ZC2HC1A EXON Missense_L4M exm707096 8 79598772 [T/C] NM_016010 ZC2HC1A EXON Missense_A94V exm707110 8 79601591 [A/C] NM_016010 ZC2HC1A EXON Missense_T163P exm707111 8 79601592 [T/C] NM_016010 ZC2HC1A EXON Missense_T163I exm707112 8 79601598 [A/G] NM_016010 ZC2HC1A EXON Missense_R165Q exm707119 8 79609723 [A/G] NM_016010 ZC2HC1A EXON Missense_A196T exm707128 8 79627505 [T/C] NM_016010 ZC2HC1A EXON Missense_P252S exm707132 8 79629586 [T/C] NM_016010 ZC2HC1A EXON Missense_S279F exm707143 8 79648740 [A/G] NM_000880,NM_001199886,NM_001199888,NM_001199887 IL7,IL7,IL7,IL7 EXON Missense_A128V,Missense_A84V,Silent,Silent exm-rs2717536 8 79701876 [A/G] NM_000880,NM_001199886,NM_001199888,NM_001199887 IL7,IL7,IL7,IL7 Silent,Silent,Silent,Silent exm2258974 8 79762658 [T/C] exm2266742 8 80060941 [A/G] exm-rs1460163 8 80227448 [A/G] exm2266648 8 80398163 [A/G] exm707158 8 80549106 [A/G] NM_001199214,NM_007029 STMN2,STMN2 EXON Missense_R30H,Missense_R30H exm707174 8 80677484 [A/G] NM_012258,NM_001040708 HEY1,HEY1 EXON Missense_T285M,Missense_T289M exm707178 8 80677527 [A/G] NM_012258,NM_001040708 HEY1,HEY1 EXON Missense_F271L,Missense_F275L exm2270879 8 80774955 [T/C] exm707216 8 80831329 [T/C] NM_014018 MRPS28 EXON Synonymous_T150T exm2258976 8 80831329 [T/C] NM_014018 MRPS28 EXON Synonymous_T150T exm707224 8 80915331 [A/C] NM_014018 MRPS28 EXON Missense_V100F exm707226 8 80915364 [A/G] NM_014018 MRPS28 EXON Missense_L89F exm707227 8 80915400 [T/C] NM_014018 MRPS28 EXON Missense_V77M exm2262535 8 80937871 [T/C] NM_014018 MRPS28 Silent exm707231 8 80942288 [T/C] NM_014018 MRPS28 EXON Missense_V66M exm707235 8 80942312 [A/G] NM_014018 MRPS28 EXON Missense_R58W exm2176610 8 80942323 [G/C] NM_014018 MRPS28 EXON Missense_S54T exm707237 8 80942341 [G/C] NM_014018 MRPS28 EXON Missense_R48P exm707255 8 80956421 [T/C] NM_001025253,NM_005079,NM_001025252 TPD52,TPD52,TPD52 EXON Missense_I146V,Silent,Silent exm707269 8 80965596 [A/G] NM_001025253,NM_005079,NM_001025252 TPD52,TPD52,TPD52 EXON Missense_R69W,Missense_R69W,Missense_R109W exm707277 8 80976799 [T/C] NM_001025253,NM_005079,NM_001025252 TPD52,TPD52,TPD52 EXON Missense_E17K,Missense_E17K,Missense_E57K exm707279 8 80976802 [T/C] NM_001025253,NM_005079,NM_001025252 TPD52,TPD52,TPD52 EXON Missense_E16K,Missense_E16K,Missense_E56K exm707281 8 80976814 [A/C] NM_001025253,NM_005079,NM_001025252 TPD52,TPD52,TPD52 EXON Missense_D12Y,Missense_D12Y,Missense_D52Y exm707284 8 80992651 [T/G] NM_001025253,NM_005079,NM_001025252 TPD52,TPD52,TPD52 EXON Silent,Silent,Missense_Q13P exm707286 8 80992664 [A/G] NM_001025253,NM_005079,NM_001025252 TPD52,TPD52,TPD52 EXON Silent,Silent,Missense_Y9H exm2270880 8 81271432 [T/C] exm707304 8 81399527 [T/G] NM_023929,NM_001105539 ZBTB10,ZBTB10 EXON Missense_V161G,Missense_V161G exm707327 8 81400006 [A/G] NM_023929,NM_001105539 ZBTB10,ZBTB10 EXON Missense_A321T,Missense_A321T exm707342 8 81412399 [A/G] NM_023929,NM_001105539 ZBTB10,ZBTB10 EXON Missense_E548G,Missense_E548G exm707347 8 81426196 [A/C] NM_023929,NM_001105539 ZBTB10,ZBTB10 EXON Missense_A638E,Missense_A638E exm2247153 8 81430748 [A/G] NM_023929,NM_001105539 ZBTB10,ZBTB10 EXON Missense_A667T,Missense_A691T exm707357 8 81430806 [T/G] NM_023929,NM_001105539 ZBTB10,ZBTB10 EXON Missense_W686L,Missense_W710L exm707361 8 81431696 [G/C] NM_023929,NM_001105539 ZBTB10,ZBTB10 EXON Missense_G826A,Missense_G850A exm-rs272594 8 81470120 [A/C] exm707403 8 81577057 [C/G] NM_001033723 ZNF704 EXON Missense_A307G exm707409 8 81577150 [G/C] NM_001033723 ZNF704 EXON Missense_T276R exm2258979 8 81577212 [T/C] NM_001033723 ZNF704 EXON Synonymous_P255P exm707412 8 81577212 [T/C] NM_001033723 ZNF704 EXON Synonymous_P255P exm707423 8 81599510 [A/G] NM_001033723 ZNF704 EXON Missense_A170V exm707428 8 81599629 [T/G] NM_001033723 ZNF704 EXON Nonsense_Y130X exm707432 8 81605240 [A/G] NM_001033723 ZNF704 EXON Synonymous_N108N exm707435 8 81605251 [T/C] NM_001033723 ZNF704 EXON Missense_V105M exm707438 8 81733653 [T/G] NM_001033723 ZNF704 EXON Missense_Q59H exm707441 8 81733727 [A/C] NM_001033723 ZNF704 EXON Missense_A35S exm2266649 8 81847103 [A/G] exm707448 8 81888847 [T/C] NM_018440 PAG1 EXON Missense_V411I exm707451 8 81888886 [A/C] NM_018440 PAG1 EXON Nonsense_E398X exm707462 8 81892702 [A/G] NM_018440 PAG1 EXON Missense_R302W exm707467 8 81897051 [C/G] NM_018440 PAG1 EXON Missense_A279G exm707475 8 81897267 [G/C] NM_018440 PAG1 EXON Missense_T207S exm707477 8 81897435 [A/G] NM_018440 PAG1 EXON Missense_V151A exm2176698 8 81899679 [T/C] NM_018440 PAG1 EXON Missense_S67N exm707498 8 81905452 [A/G] NM_018440 PAG1 EXON Missense_A4V exm2262536 8 82004857 [A/G] NM_018440 PAG1 Silent exm2247156 8 82196138 [A/G] NM_001444 FABP5 EXON Missense_V95I exm707512 8 82196144 [T/C] NM_001444 FABP5 EXON Missense_H97Y exm707521 8 82355667 [T/C] NM_002677 PMP2 EXON Missense_G122D exm707526 8 82356830 [T/C] NM_002677 PMP2 EXON Missense_V85I exm707527 8 82356831 [G/C] NM_002677 PMP2 EXON Missense_I84M exm707529 8 82357119 [T/A] NM_002677 PMP2 EXON Missense_N60I exm707531 8 82357149 [A/G] NM_002677 PMP2 EXON Missense_I50T exm707543 8 82370871 [A/G] NM_001080526 FABP9 EXON Missense_I105T exm707545 8 82370880 [T/C] NM_001080526 FABP9 EXON Missense_E102G exm707548 8 82370902 [T/C] NM_001080526 FABP9 EXON Missense_V95I exm2247160 8 82371515 [T/C] NM_001080526 FABP9 EXON Missense_S44N exm707559 8 82371530 [A/G] NM_001080526 FABP9 EXON Missense_P39L exm707560 8 82371545 [A/G] NM_001080526 FABP9 EXON Missense_A34V exm707561 8 82371557 [T/G] NM_001080526 FABP9 EXON Missense_A30D exm707566 8 82373754 [A/G] NM_001080526 FABP9 EXON Missense_V2A exm707572 8 82391647 [A/G] NM_001442 FABP4 Silent exm707574 8 82391664 [T/A] NM_001442 FABP4 EXON Missense_D111E exm707577 8 82391720 [C/G] NM_001442 FABP4 EXON Missense_V93L exm707579 8 82391734 [T/G] NM_001442 FABP4 EXON Missense_D88A exm707587 8 82392786 [T/C] NM_001442 FABP4 EXON Missense_M41V exm2270990 8 82427790 [T/C] exm707606 8 82439340 [T/C] NM_001105281 FABP12 EXON Missense_D88G exm707610 8 82441724 [A/C] NM_001105281 FABP12 EXON Missense_F65L exm707612 8 82441791 [A/G] NM_001105281 FABP12 EXON Missense_I43T exm707614 8 82441816 [A/G] NM_001105281 FABP12 EXON Missense_R35C exm2258982 8 82471545 [A/C] exm707637 8 82583237 [A/G] NM_001144878,NM_005536,NM_001144879 IMPA1,IMPA1,IMPA1 EXON Missense_T227I,Missense_T168I,Silent exm707644 8 82588492 [T/C] NM_001144878,NM_005536,NM_001144879 IMPA1,IMPA1,IMPA1 EXON Missense_I168V,Missense_I109V,Missense_I109V exm707660 8 82592967 [A/G] NM_001144878,NM_005536,NM_001144879 IMPA1,IMPA1,IMPA1 EXON Missense_P98S,Missense_P39S,Missense_P39S exm707664 8 82598063 [T/C] NM_001144878,NM_005536,NM_001144879 IMPA1,IMPA1,IMPA1 EXON Missense_K30E,Silent,Silent exm707675 8 82606244 [A/G] NM_001010893 SLC10A5 EXON Missense_F322L exm707677 8 82606305 [C/G] NM_001010893 SLC10A5 EXON Missense_F301L exm707679 8 82606322 [G/C] NM_001010893 SLC10A5 EXON Missense_P296A exm707681 8 82606333 [T/C] NM_001010893 SLC10A5 EXON Missense_K292R exm707682 8 82606348 [A/G] NM_001010893 SLC10A5 EXON Missense_I287T exm707688 8 82606468 [A/G] NM_001010893 SLC10A5 EXON Missense_L247P exm707691 8 82606552 [T/C] NM_001010893 SLC10A5 EXON Missense_G219D exm707698 8 82606780 [T/A] NM_001010893 SLC10A5 EXON Missense_I143N exm707700 8 82606793 [T/C] NM_001010893 SLC10A5 EXON Missense_I139V exm707705 8 82606946 [T/C] NM_001010893 SLC10A5 EXON Missense_I88V exm707708 8 82607027 [A/G] NM_001010893 SLC10A5 EXON Missense_F61L exm707711 8 82607068 [G/C] NM_001010893 SLC10A5 EXON Missense_S47T exm2274315 8 82607130 [A/C] NM_001010893 SLC10A5 EXON Missense_F26L exm707720 8 82615211 [A/G] NM_024699,NM_001170796,NR_033194,NR_033195,NR_033193,NM_001170797,NR_033196 ZFAND1,ZFAND1,ZFAND1,ZFAND1,ZFAND1,ZFAND1,ZFAND1 EXON Missense_T210I,Missense_T203I,Silent,Silent,Silent,Missense_T210I,Silent exm707721 8 82615242 [G/C] NM_024699,NM_001170796,NR_033194,NR_033195,NR_033193,NM_001170797,NR_033196 ZFAND1,ZFAND1,ZFAND1,ZFAND1,ZFAND1,ZFAND1,ZFAND1 EXON Missense_A200P,Missense_A193P,Silent,Silent,Silent,Missense_A200P,Silent exm707727 8 82615337 [A/C] NM_024699,NM_001170796,NR_033194,NR_033195,NR_033193,NM_001170797,NR_033196 ZFAND1,ZFAND1,ZFAND1,ZFAND1,ZFAND1,ZFAND1,ZFAND1 EXON Missense_V168G,Missense_V161G,Silent,Silent,Silent,Missense_V168G,Silent exm707730 8 82626226 [T/C] NM_024699,NM_001170796,NR_033194,NR_033195,NR_033193,NM_001170797,NR_033196 ZFAND1,ZFAND1,ZFAND1,ZFAND1,ZFAND1,ZFAND1,ZFAND1 EXON Missense_N136S,Missense_N136S,Silent,Silent,Silent,Missense_N136S,Silent exm707742 8 82627302 [G/C] NM_024699,NM_001170796,NR_033194,NR_033195,NR_033193,NM_001170797,NR_033196 ZFAND1,ZFAND1,ZFAND1,ZFAND1,ZFAND1,ZFAND1,ZFAND1 EXON Nonsense_Y62X,Nonsense_Y62X,Silent,Silent,Silent,Nonsense_Y62X,Silent exm707748 8 82633491 [T/C] NM_024699,NM_001170796,NR_033194,NR_033195,NR_033193,NM_001170797,NR_033196 ZFAND1,ZFAND1,ZFAND1,ZFAND1,ZFAND1,ZFAND1,ZFAND1 EXON Missense_H9R,Missense_H9R,Silent,Silent,Silent,Missense_H9R,Silent exm707752 8 82644869 [A/G] NM_152284 CHMP4C EXON Missense_K3R exm707761 8 82665421 [G/C] NM_152284 CHMP4C EXON Missense_V105L exm707766 8 82667691 [A/G] NM_152284 CHMP4C EXON Missense_R152Q exm707771 8 82670392 [G/C] NM_152284 CHMP4C EXON Missense_E167Q exm707774 8 82670444 [A/G] NM_152284 CHMP4C EXON Missense_R184H exm707783 8 82670771 [A/G] NM_152284 CHMP4C EXON Missense_A232T exm2176858 8 82713734 [A/G] NM_152836,NM_152837,NM_022133 SNX16,SNX16,SNX16 EXON Missense_X345Q,Missense_X316Q,Missense_X345Q exm707798 8 82715340 [G/C] NM_152836,NM_152837,NM_022133 SNX16,SNX16,SNX16 EXON Missense_E269Q,Missense_E240Q,Missense_E269Q exm707800 8 82715352 [T/C] NM_152836,NM_152837,NM_022133 SNX16,SNX16,SNX16 EXON Missense_I265V,Missense_I236V,Missense_I265V exm707801 8 82715411 [A/G] NM_152836,NM_152837,NM_022133 SNX16,SNX16,SNX16 EXON Missense_L245P,Missense_L216P,Missense_L245P exm707802 8 82715429 [T/C] NM_152836,NM_152837,NM_022133 SNX16,SNX16,SNX16 EXON Missense_R239H,Missense_R210H,Missense_R239H exm707809 8 82736033 [C/G] NM_152836,NM_152837,NM_022133 SNX16,SNX16,SNX16 EXON Missense_A202G,Missense_A173G,Missense_A202G exm2258983 8 82736068 [T/C] NM_152836,NM_152837,NM_022133 SNX16,SNX16,SNX16 EXON Synonymous_A190A,Synonymous_A161A,Synonymous_A190A exm707811 8 82736069 [A/G] NM_152836,NM_152837,NM_022133 SNX16,SNX16,SNX16 EXON Missense_A190V,Missense_A161V,Missense_A190V exm707812 8 82736094 [T/C] NM_152836,NM_152837,NM_022133 SNX16,SNX16,SNX16 EXON Missense_E182K,Missense_E153K,Missense_E182K exm707819 8 82751929 [A/G] NM_152836,NM_152837,NM_022133 SNX16,SNX16,SNX16 EXON Missense_P98L,Missense_P98L,Missense_P98L exm707821 8 82751957 [T/C] NM_152836,NM_152837,NM_022133 SNX16,SNX16,SNX16 EXON Missense_R89G,Missense_R89G,Missense_R89G exm707825 8 82752079 [T/C] NM_152836,NM_152837,NM_022133 SNX16,SNX16,SNX16 EXON Missense_N48S,Missense_N48S,Missense_N48S exm2258984 8 82939088 [T/C] exm2266744 8 83432030 [A/G] exm2264298 8 83542128 [A/C] exm-rs6473383 8 83669120 [A/G] exm2266650 8 83724668 [A/G] exm-rs1375785 8 83991231 [A/C] exm2270991 8 84280532 [T/G] exm2270882 8 84471850 [T/C] exm2266745 8 84749227 [A/G] exm2266651 8 85121515 [A/G] NM_001100392,NM_001100393,NM_173848,NM_001100391 RALYL,RALYL,RALYL,RALYL Silent,Silent,Silent,Silent exm2258989 8 85328171 [T/G] NM_001100392,NM_001100393,NM_173848,NM_001100391 RALYL,RALYL,RALYL,RALYL Silent,Silent,Silent,Silent exm707831 8 85441551 [A/C] NM_001100392,NM_001100393,NM_173848,NM_001100391 RALYL,RALYL,RALYL,RALYL EXON Silent,Silent,Silent,Missense_P12T exm707841 8 85686889 [A/G] NM_001100392,NM_001100393,NM_173848,NM_001100391 RALYL,RALYL,RALYL,RALYL EXON Missense_R111K,Missense_R111K,Missense_R111K,Missense_R124K exm707860 8 85785617 [A/C] NM_001100392,NM_001100393,NM_173848,NM_001100391 RALYL,RALYL,RALYL,RALYL EXON Missense_Q224K,Missense_Q224K,Missense_Q224K,Missense_Q237K exm2270992 8 85800261 [T/C] NM_001100392,NM_001100393,NM_173848,NM_001100391 RALYL,RALYL,RALYL,RALYL Silent,Silent,Silent,Silent exm707876 8 86019544 [A/C] NM_033402 LRRCC1 EXON Missense_A5E exm707882 8 86021909 [T/G] NM_033402 LRRCC1 EXON Missense_D62Y exm707883 8 86021913 [A/G] NM_033402 LRRCC1 EXON Missense_H63R exm2176895 8 86021930 [T/C] NM_033402 LRRCC1 EXON Missense_H69Y exm707884 8 86021932 [A/T] NM_033402 LRRCC1 EXON Missense_H69Q exm707885 8 86021994 [A/G] NM_033402 LRRCC1 EXON Missense_C90Y exm707888 8 86025218 [A/C] NM_033402 LRRCC1 EXON Missense_H143P exm707892 8 86025310 [A/G] NM_033402 LRRCC1 EXON Missense_D174N exm707893 8 86025326 [A/G] NM_033402 LRRCC1 EXON Missense_R179Q exm707896 8 86027418 [A/G] NM_033402 LRRCC1 EXON Missense_T210A exm707919 8 86038952 [A/G] NM_033402 LRRCC1 EXON Missense_R434K exm707921 8 86038981 [A/G] NM_033402 LRRCC1 EXON Missense_E444K exm707923 8 86039054 [T/C] NM_033402 LRRCC1 EXON Missense_A468V exm707925 8 86041456 [A/G] NM_033402 LRRCC1 EXON Missense_E490K exm707926 8 86041465 [T/G] NM_033402 LRRCC1 EXON Missense_V493F exm707932 8 86041579 [A/G] NM_033402 LRRCC1 EXON Missense_M531V exm707937 8 86042226 [T/C] NM_033402 LRRCC1 EXON Missense_L567F exm707943 8 86044067 [A/C] NM_033402 LRRCC1 EXON Missense_K613N exm707945 8 86044159 [A/G] NM_033402 LRRCC1 EXON Missense_R644H exm707948 8 86047146 [T/C] NM_033402 LRRCC1 EXON Missense_A678V exm707955 8 86048151 [G/C] NM_033402 LRRCC1 EXON Missense_G761A exm707959 8 86049708 [T/C] NM_033402 LRRCC1 EXON Missense_L780P exm707961 8 86049731 [A/G] NM_033402 LRRCC1 EXON Missense_E788K exm707962 8 86049741 [T/C] NM_033402 LRRCC1 EXON Missense_I791T exm707965 8 86049837 [T/C] NM_033402 LRRCC1 EXON Missense_T823I exm707969 8 86050403 [A/G] NM_033402 LRRCC1 EXON Missense_N876S exm707971 8 86050583 [T/C] NM_033402 LRRCC1 EXON Missense_R905W exm2176918 8 86050584 [A/G] NM_033402 LRRCC1 EXON Missense_R905Q exm707975 8 86050680 [T/C] NM_033402 LRRCC1 EXON Missense_A937V exm707976 8 86050688 [A/G] NM_033402 LRRCC1 EXON Missense_D940N exm2266652 8 86052243 [A/G] NM_033402 LRRCC1 Silent exm707978 8 86053617 [A/G] NM_033402 LRRCC1 EXON Synonymous_K947K exm707982 8 86057649 [A/G] NM_033402 LRRCC1 EXON Missense_R1001H exm707986 8 86057746 [A/G] NM_033402 LRRCC1 EXON Missense_X1033W exm708006 8 86118454 [A/T] NM_001951,NM_001083588,NM_001083589 E2F5,E2F5,E2F5 EXON Missense_N183K,Missense_N183K,Missense_N22K exm708010 8 86121636 [T/C] NM_001951,NM_001083588,NM_001083589 E2F5,E2F5,E2F5 EXON Missense_I292T,Missense_I292T,Missense_I131T exm708019 8 86126805 [A/G] NM_001099673,NM_001099670,NM_001099672,NM_001099671 C8orf59,C8orf59,C8orf59,C8orf59 EXON Missense_A96V,Missense_A96V,Missense_A96V,Missense_A96V exm708030 8 86127149 [A/C] NM_001099673,NM_001099670,NM_001099672,NM_001099671 C8orf59,C8orf59,C8orf59,C8orf59 Silent,Silent,Silent,Silent exm2247175 8 86131463 [A/T] NM_001099673,NM_001099670,NM_001099672,NM_001099671 C8orf59,C8orf59,C8orf59,C8orf59 Silent,Silent,Silent,Silent exm708052 8 86171659 [A/G] NM_198584 CA13 EXON Missense_G82D exm708054 8 86171664 [A/C] NM_198584 CA13 EXON Missense_P84T exm708057 8 86171710 [T/G] NM_198584 CA13 EXON Missense_G99V exm708071 8 86180719 [A/G] NM_198584 CA13 EXON Missense_T178A exm708090 8 86240851 [T/C] NM_001128831,NM_001128830,NM_001164830,NM_001128829,NM_001738 CA1,CA1,CA1,CA1,CA1 EXON Missense_M242V,Missense_M242V,Missense_M242V,Missense_M242V,Missense_M242V exm708093 8 86240892 [T/C] NM_001128831,NM_001128830,NM_001164830,NM_001128829,NM_001738 CA1,CA1,CA1,CA1,CA1 EXON Missense_R228H,Missense_R228H,Missense_R228H,Missense_R228H,Missense_R228H exm708096 8 86242000 [A/G] NM_001128831,NM_001128830,NM_001164830,NM_001128829,NM_001738 CA1,CA1,CA1,CA1,CA1 EXON Missense_P196L,Missense_P196L,Missense_P196L,Missense_P196L,Missense_P196L exm708097 8 86242037 [T/C] NM_001128831,NM_001128830,NM_001164830,NM_001128829,NM_001738 CA1,CA1,CA1,CA1,CA1 EXON Missense_T184A,Missense_T184A,Missense_T184A,Missense_T184A,Missense_T184A exm708099 8 86244732 [A/G] NM_001128831,NM_001128830,NM_001164830,NM_001128829,NM_001738 CA1,CA1,CA1,CA1,CA1 EXON Missense_A167V,Missense_A167V,Missense_A167V,Missense_A167V,Missense_A167V exm2176961 8 86244777 [T/C] NM_001128831,NM_001128830,NM_001164830,NM_001128829,NM_001738 CA1,CA1,CA1,CA1,CA1 EXON Missense_G152D,Missense_G152D,Missense_G152D,Missense_G152D,Missense_G152D exm2275233 8 86244781 [T/C] NM_001128831,NM_001128830,NM_001164830,NM_001128829,NM_001738 CA1,CA1,CA1,CA1,CA1 EXON Missense_V151I,Missense_V151I,Missense_V151I,Missense_V151I,Missense_V151I exm708104 8 86245776 [A/G] NM_001128831,NM_001128830,NM_001164830,NM_001128829,NM_001738 CA1,CA1,CA1,CA1,CA1 EXON Missense_A143V,Missense_A143V,Missense_A143V,Missense_A143V,Missense_A143V exm708106 8 86245807 [T/C] NM_001128831,NM_001128830,NM_001164830,NM_001128829,NM_001738 CA1,CA1,CA1,CA1,CA1 EXON Missense_A133T,Missense_A133T,Missense_A133T,Missense_A133T,Missense_A133T exm708108 8 86249176 [T/C] NM_001128831,NM_001128830,NM_001164830,NM_001128829,NM_001738 CA1,CA1,CA1,CA1,CA1 EXON Missense_E118K,Missense_E118K,Missense_E118K,Missense_E118K,Missense_E118K exm708110 8 86249226 [T/G] NM_001128831,NM_001128830,NM_001164830,NM_001128829,NM_001738 CA1,CA1,CA1,CA1,CA1 EXON Missense_T101K,Missense_T101K,Missense_T101K,Missense_T101K,Missense_T101K exm708124 8 86351961 [G/C] NM_005181 CA3 EXON Missense_L19V exm708126 8 86351997 [A/G] NM_005181 CA3 EXON Missense_V31I exm708134 8 86354328 [T/C] NM_005181 CA3 EXON Missense_P87S exm708137 8 86354410 [A/G] NM_005181 CA3 EXON Missense_Y114C exm708145 8 86357401 [C/G] NM_005181 CA3 EXON Missense_G154A exm708155 8 86360293 [A/G] NM_005181 CA3 EXON Missense_A232T exm708168 8 86377667 [C/G] NM_000067 CA2 EXON Missense_N67K exm708194 8 86392944 [A/G] NM_000067 CA2 EXON Missense_E237K exm708195 8 86392989 [A/G] NM_000067 CA2 EXON Missense_N252D exm2266653 8 86503161 [A/G] exm708204 8 87060725 [T/C] NM_033126 PSKH2 EXON Missense_R375K exm708211 8 87060843 [T/C] NM_033126 PSKH2 EXON Missense_I336V exm708212 8 87060856 [A/C] NM_033126 PSKH2 EXON Missense_N331K exm708213 8 87060876 [A/C] NM_033126 PSKH2 EXON Missense_A325S exm708217 8 87060926 [T/C] NM_033126 PSKH2 EXON Missense_R308H exm708221 8 87076250 [T/G] NM_033126 PSKH2 EXON Missense_S266R exm2247181 8 87076258 [T/C] NM_033126 PSKH2 EXON Missense_D263G exm708225 8 87076325 [T/C] NM_033126 PSKH2 EXON Missense_S241G exm708227 8 87076373 [T/C] NM_033126 PSKH2 EXON Missense_T225A exm708232 8 87076415 [T/C] NM_033126 PSKH2 EXON Missense_G211R exm708236 8 87076460 [T/C] NM_033126 PSKH2 EXON Missense_E196K exm708239 8 87076520 [A/C] NM_033126 PSKH2 EXON Missense_A176S exm708243 8 87076573 [T/C] NM_033126 PSKH2 EXON Missense_R158Q exm2276920 8 87076604 [A/G] NM_033126 PSKH2 EXON Nonsense_R148X exm708247 8 87076650 [T/G] NM_033126 PSKH2 EXON Missense_Q132H exm708248 8 87076651 [T/C] NM_033126 PSKH2 EXON Missense_Q132R exm708251 8 87076694 [A/G] NM_033126 PSKH2 EXON Missense_R118C exm708253 8 87076706 [A/G] NM_033126 PSKH2 EXON Missense_R114W exm708256 8 87076810 [T/C] NM_033126 PSKH2 EXON Missense_R79K exm708266 8 87111241 [G/C] NM_152565 ATP6V0D2 EXON Missense_D12H exm2177051 8 87125953 [T/G] NM_152565 ATP6V0D2 EXON Missense_L49R exm708281 8 87151779 [T/G] NM_152565 ATP6V0D2 EXON Missense_L132F exm708284 8 87151852 [A/G] NM_152565 ATP6V0D2 EXON Missense_E157K exm708288 8 87153696 [T/G] NM_152565 ATP6V0D2 EXON Missense_C167G exm708292 8 87153741 [T/C] NM_152565 ATP6V0D2 EXON Missense_R182C exm708295 8 87153758 [A/G] NM_152565 ATP6V0D2 EXON Synonymous_K187K exm708299 8 87155151 [A/G] NM_152565 ATP6V0D2 EXON Missense_V203I exm708303 8 87162416 [A/C] NM_152565 ATP6V0D2 EXON Missense_T239P exm2177059 8 87162446 [T/C] NM_152565 ATP6V0D2 EXON Missense_P249S exm708309 8 87162510 [A/G] NM_152565 ATP6V0D2 EXON Missense_H270R exm708310 8 87162515 [A/G] NM_152565 ATP6V0D2 EXON Missense_G272R exm708312 8 87163701 [A/G] NM_152565 ATP6V0D2 EXON Missense_K275E exm708315 8 87163752 [A/G] NM_152565 ATP6V0D2 EXON Missense_V292M exm708316 8 87163761 [A/G] NM_152565 ATP6V0D2 EXON Missense_E295K exm708320 8 87165071 [A/C] NM_152565 ATP6V0D2 EXON Missense_N306K exm2177063 8 87165142 [A/G] NM_152565 ATP6V0D2 EXON Nonsense_W330X exm708330 8 87226647 [T/C] NM_138817 SLC7A13 EXON Missense_E470K exm708333 8 87226700 [A/G] NM_138817 SLC7A13 EXON Missense_M452T exm708340 8 87226866 [A/G] NM_138817 SLC7A13 EXON Missense_S397P exm708341 8 87229698 [T/C] NM_138817 SLC7A13 Silent exm708343 8 87229706 [T/G] NM_138817 SLC7A13 EXON Missense_P391H exm708344 8 87229732 [T/G] NM_138817 SLC7A13 EXON Missense_R382S exm708345 8 87229739 [T/C] NM_138817 SLC7A13 EXON Missense_R380K exm708349 8 87229839 [A/C] NM_138817 SLC7A13 EXON Nonsense_G347X exm708350 8 87229890 [A/G] NM_138817 SLC7A13 EXON Missense_L330F exm708351 8 87229946 [A/G] NM_138817 SLC7A13 EXON Missense_S311L exm708357 8 87230034 [A/G] NM_138817 SLC7A13 EXON Nonsense_R282X exm2258996 8 87235150 [T/C] NM_138817 SLC7A13 Silent exm708361 8 87235215 [T/C] NM_138817 SLC7A13 EXON Missense_E268G exm708364 8 87235273 [T/C] NM_138817 SLC7A13 EXON Missense_V249M exm708367 8 87241833 [A/G] NM_138817 SLC7A13 EXON Missense_T225I exm708375 8 87241965 [T/A] NM_138817 SLC7A13 EXON Missense_F181Y exm708376 8 87241987 [A/T] NM_138817 SLC7A13 EXON Missense_I174F exm708377 8 87241995 [A/G] NM_138817 SLC7A13 EXON Missense_L171P exm2247182 8 87242073 [A/G] NM_138817 SLC7A13 EXON Missense_V145A exm708383 8 87242140 [A/G] NM_138817 SLC7A13 EXON Missense_F123L exm708388 8 87242215 [A/G] NM_138817 SLC7A13 EXON Missense_W98R exm708389 8 87242219 [A/C] NM_138817 SLC7A13 EXON Missense_N96K exm708394 8 87242291 [T/C] NM_138817 SLC7A13 EXON Missense_I72M exm708395 8 87242353 [T/C] NM_138817 SLC7A13 EXON Missense_V52I exm2247183 8 87242361 [A/G] NM_138817 SLC7A13 EXON Missense_S49F exm708396 8 87242372 [G/C] NM_138817 SLC7A13 EXON Missense_N45K exm708397 8 87242406 [T/G] NM_138817 SLC7A13 EXON Missense_S34Y exm708411 8 87414358 [T/C] NM_007013 WWP1 EXON Missense_P217L exm708453 8 87454981 [T/C] NM_007013 WWP1 EXON Missense_C658R exm708462 8 87460703 [A/G] NM_007013 WWP1 EXON Missense_N745S exm708507 8 87497181 [T/C] NM_016033 RMDN1 EXON Missense_I169V exm708509 8 87498717 [T/C] NM_016033 RMDN1 EXON Missense_H164R exm708517 8 87498853 [A/G] NM_016033 RMDN1 EXON Missense_W119R exm708520 8 87500847 [A/G] NM_016033 RMDN1 EXON Missense_A90V exm708521 8 87500869 [T/C] NM_016033 RMDN1 Silent exm708522 8 87519242 [C/G] NM_016033 RMDN1 EXON Missense_V77L exm708525 8 87519315 [T/G] NM_016033 RMDN1 EXON Missense_K52N exm2177170 8 87520846 [A/C] NM_016033 RMDN1 EXON Missense_A2S exm708537 8 87540832 [A/C] NM_003909 CPNE3 EXON Missense_D20A exm2177178 8 87541204 [T/C] NM_003909 CPNE3 EXON Missense_L55S exm708545 8 87541287 [A/G] NM_003909 CPNE3 EXON Missense_D83N exm708551 8 87543456 [T/C] NM_003909 CPNE3 EXON Missense_T129M exm708557 8 87549853 [A/G] NM_003909 CPNE3 EXON Nonsense_W174X exm708571 8 87556968 [A/G] NM_003909 CPNE3 EXON Missense_V212M exm708579 8 87558846 [G/C] NM_003909 CPNE3 EXON Missense_E252D exm708581 8 87560528 [T/G] NM_003909 CPNE3 Silent exm708582 8 87560554 [A/G] NM_003909 CPNE3 EXON Missense_N302S exm708584 8 87560599 [A/G] NM_003909 CPNE3 EXON Missense_N317S exm708585 8 87560604 [A/G] NM_003909 CPNE3 EXON Missense_V319I exm708588 8 87560661 [A/G] NM_003909 CPNE3 EXON Missense_A338T exm708589 8 87560663 [A/G] NM_003909 CPNE3 Silent exm708596 8 87563330 [T/G] NM_003909 CPNE3 Silent exm708601 8 87563442 [A/C] NM_003909 CPNE3 EXON Missense_P367Q exm2247189 8 87567099 [A/G] NM_003909 CPNE3 EXON Missense_A381T exm708605 8 87567100 [T/C] NM_003909 CPNE3 EXON Missense_A381V exm708607 8 87567106 [A/G] NM_003909 CPNE3 EXON Missense_R383Q exm708609 8 87567156 [A/G] NM_003909 CPNE3 EXON Missense_I400V exm708610 8 87567168 [A/G] NM_003909 CPNE3 EXON Missense_V404M exm708614 8 87567193 [T/C] NM_003909 CPNE3 EXON Missense_T412M exm708621 8 87568504 [T/C] NM_003909 CPNE3 EXON Missense_P477S exm-rs2304787 8 87568644 [T/G] NM_003909 CPNE3 Silent exm2177215 8 87570576 [T/C] NM_003909 CPNE3 EXON Missense_Y518H exm708635 8 87588042 [C/G] NM_019098 CNGB3 EXON Missense_A807G exm2247193 8 87588047 [T/G] NM_019098 CNGB3 EXON Missense_E805D exm708639 8 87588087 [A/G] NM_019098 CNGB3 EXON Missense_A792V exm708642 8 87588154 [A/C] NM_019098 CNGB3 EXON Missense_V770F exm708643 8 87588198 [T/C] NM_019098 CNGB3 EXON Missense_E755G exm2274317 8 87588214 [A/G] NM_019098 CNGB3 EXON Missense_P750S exm708657 8 87588303 [T/C] NM_019098 CNGB3 EXON Missense_Q720R exm708672 8 87591364 [T/C] NM_019098 CNGB3 EXON Missense_D633G exm2247194 8 87591407 [C/G] NM_019098 CNGB3 EXON Missense_L619V exm708679 8 87616370 [T/A] NM_019098 CNGB3 EXON Missense_T578S exm708681 8 87616404 [T/A] NM_019098 CNGB3 EXON Missense_H566Q exm708682 8 87616406 [A/G] NM_019098 CNGB3 EXON Missense_H566Y exm708690 8 87638255 [T/C] NM_019098 CNGB3 EXON Missense_I512V exm708691 8 87638276 [T/C] NM_019098 CNGB3 EXON Missense_T505A exm708692 8 87638279 [T/C] NM_019098 CNGB3 EXON Missense_T504A exm708694 8 87638297 [T/A] NM_019098 CNGB3 EXON Missense_L498M exm708698 8 87641188 [T/C] NM_019098 CNGB3 EXON Missense_R480Q exm708700 8 87641195 [A/G] NM_019098 CNGB3 EXON Nonsense_R478X exm708703 8 87641222 [A/C] NM_019098 CNGB3 EXON Missense_Y469D exm708704 8 87641230 [A/G] NM_019098 CNGB3 EXON Missense_M466T exm708713 8 87645092 [T/C] NM_019098 CNGB3 EXON Missense_R403Q exm708714 8 87645096 [A/C] NM_019098 CNGB3 EXON Missense_V402F exm708718 8 87656040 [A/G] NM_019098 CNGB3 EXON Missense_W373R exm708726 8 87660100 [T/C] NM_019098 CNGB3 EXON Missense_I307V exm708727 8 87660106 [T/C] NM_019098 CNGB3 EXON Missense_A305T exm708730 8 87666251 [T/G] NM_019098 CNGB3 EXON Missense_T298P exm2270885 8 87673711 [T/C] NM_019098 CNGB3 Silent exm708743 8 87679290 [A/G] NM_019098 CNGB3 EXON Missense_R239C exm708744 8 87679303 [A/C] NM_019098 CNGB3 EXON Missense_C234W exm708745 8 87679328 [T/G] NM_019098 CNGB3 EXON Missense_T226N exm708749 8 87680282 [T/C] NM_019098 CNGB3 EXON Missense_R203Q exm708750 8 87680295 [T/C] NM_019098 CNGB3 EXON Missense_E199K exm708757 8 87683198 [A/G] NM_019098 CNGB3 EXON Missense_S156F exm2266746 8 87690019 [A/G] NM_019098 CNGB3 Silent exm708765 8 87738778 [T/C] NM_019098 CNGB3 EXON Missense_G107R exm708775 8 87755776 [T/C] NM_019098 CNGB3 EXON Missense_N27S exm708777 8 87755813 [G/C] NM_019098 CNGB3 EXON Missense_G15R exm708782 8 87878725 [T/C] NM_173538 CNBD1 EXON Missense_M1T exm708783 8 87878728 [T/C] NM_173538 CNBD1 EXON Missense_P2L exm708789 8 87899784 [A/G] NM_173538 CNBD1 EXON Missense_K35E exm708792 8 87917310 [T/C] NM_173538 CNBD1 EXON Missense_R54W exm708793 8 87917311 [T/G] NM_173538 CNBD1 EXON Missense_R54L exm708796 8 87917340 [A/G] NM_173538 CNBD1 EXON Missense_D64N exm708797 8 87917355 [A/C] NM_173538 CNBD1 EXON Missense_Q69K exm708799 8 87917373 [A/C] NM_173538 CNBD1 EXON Missense_L75M exm708802 8 87951831 [A/G] NM_173538 CNBD1 EXON Missense_N94D exm708805 8 87951922 [T/C] NM_173538 CNBD1 EXON Missense_L124S exm2258998 8 88032231 [A/C] NM_173538 CNBD1 Silent exm708810 8 88218231 [A/G] NM_173538 CNBD1 EXON Missense_R148G exm708811 8 88218342 [A/G] NM_173538 CNBD1 EXON Missense_E185K exm708812 8 88249192 [G/C] NM_173538 CNBD1 EXON Missense_R208P exm708820 8 88249338 [A/G] NM_173538 CNBD1 EXON Missense_M257V exm708837 8 88298852 [A/G] NM_173538 CNBD1 EXON Missense_Y332C exm708838 8 88363940 [A/C] NM_173538 CNBD1 EXON Missense_S357Y exm2247198 8 88365897 [G/C] NM_173538 CNBD1 EXON Missense_L396V exm2177279 8 88365925 [T/A] NM_173538 CNBD1 EXON Missense_I405N exm708845 8 88365952 [T/C] NM_173538 CNBD1 EXON Missense_T414M exm2270886 8 88503249 [T/C] exm708857 8 88885110 [T/G] NM_152418 DCAF4L2 EXON Missense_P364T exm2274318 8 88885230 [T/C] NM_152418 DCAF4L2 EXON Missense_E324K exm708871 8 88885256 [A/G] NM_152418 DCAF4L2 EXON Missense_S315F exm708872 8 88885262 [T/C] NM_152418 DCAF4L2 EXON Missense_N313S exm708876 8 88885365 [A/G] NM_152418 DCAF4L2 EXON Missense_L279F exm708889 8 88885556 [A/G] NM_152418 DCAF4L2 EXON Missense_T215M exm708910 8 88886001 [A/G] NM_152418 DCAF4L2 EXON Missense_S67P exm708911 8 88886022 [T/G] NM_152418 DCAF4L2 EXON Missense_Q60K exm708915 8 88886111 [T/C] NM_152418 DCAF4L2 EXON Missense_R30Q exm2259000 8 88981540 [A/G] exm708947 8 89086860 [T/C] NM_005941 MMP16 EXON Missense_S399G exm708951 8 89128810 [T/C] NM_005941 MMP16 EXON Missense_G337R exm-rs1879199 8 89202184 [A/G] NM_005941 MMP16 Silent exm708981 8 89209512 [T/G] NM_005941 MMP16 EXON Nonsense_Y52X exm2270887 8 89342944 [T/C] exm2270994 8 89640705 [T/C] exm-rs7004633 8 89760311 [A/G] exm2270888 8 89917982 [T/C] exm2264300 8 90335076 [A/C] exm-rs4397449 8 90342186 [A/G] exm-rs160441 8 90656988 [T/C] exm708993 8 90775193 [A/G] NM_003821 RIPK2 EXON Missense_N104D exm-rs42490 8 90778513 [A/G] NM_003821 RIPK2 Silent exm709007 8 90784979 [T/C] NM_003821 RIPK2 EXON Missense_I259T exm709008 8 90784991 [T/C] NM_003821 RIPK2 EXON Missense_A263V exm709010 8 90785005 [G/C] NM_003821 RIPK2 EXON Missense_L268V exm709012 8 90796347 [A/G] NM_003821 RIPK2 EXON Missense_V337I exm709035 8 90802537 [A/G] NM_003821 RIPK2 EXON Missense_V506I exm-rs40457 8 90823687 [A/G] exm2266655 8 90837630 [A/G] exm2177383 8 90921856 [T/G] NM_004337,NM_001126111 OSGIN2,OSGIN2 EXON Silent,Missense_D36Y exm709039 8 90921869 [A/G] NM_004337,NM_001126111 OSGIN2,OSGIN2 EXON Silent,Missense_R40Q exm709040 8 90921899 [T/A] NM_004337,NM_001126111 OSGIN2,OSGIN2 EXON Missense_E6V,Missense_E50V exm709044 8 90926413 [A/C] NM_004337,NM_001126111 OSGIN2,OSGIN2 EXON Missense_E59A,Missense_E103A exm709049 8 90926879 [T/C] NM_004337,NM_001126111 OSGIN2,OSGIN2 EXON Missense_Y101H,Missense_Y145H exm2247209 8 90936984 [G/C] NM_004337,NM_001126111 OSGIN2,OSGIN2 EXON Missense_H248D,Missense_H292D exm709072 8 90937198 [C/G] NM_004337,NM_001126111 OSGIN2,OSGIN2 EXON Missense_C319S,Missense_C363S exm2247210 8 90937486 [C/G] NM_004337,NM_001126111 OSGIN2,OSGIN2 EXON Missense_S415C,Missense_S459C exm709095 8 90949252 [A/C] NM_002485 NBN Silent exm709098 8 90949286 [T/C] NM_002485 NBN EXON Synonymous_A734A exm2259006 8 90949286 [T/C] NM_002485 NBN EXON Synonymous_A734A exm709102 8 90955519 [T/C] NM_002485 NBN EXON Missense_N716D exm709111 8 90960054 [A/G] NM_002485 NBN EXON Missense_S638P exm709113 8 90960084 [T/C] NM_002485 NBN EXON Missense_E628K exm2177401 8 90965508 [T/G] NM_002485 NBN EXON Missense_F603L exm709116 8 90965540 [C/G] NM_002485 NBN EXON Missense_P593A exm709118 8 90965597 [A/T] NM_002485 NBN EXON Missense_L574I exm709119 8 90965627 [T/C] NM_002485 NBN EXON Missense_E564K exm709121 8 90965828 [T/C] NM_002485 NBN EXON Missense_T497A exm709123 8 90965863 [A/G] NM_002485 NBN EXON Missense_T485M exm709126 8 90967554 [T/G] NM_002485 NBN EXON Missense_T452P exm709129 8 90967591 [T/C] NM_002485 NBN EXON Missense_I439M exm709130 8 90967646 [A/G] NM_002485 NBN EXON Missense_L421S exm2177409 8 90971041 [T/C] NM_002485 NBN EXON Missense_V346M exm709154 8 90982691 [A/G] NM_002485 NBN EXON Missense_P266L exm709155 8 90982700 [A/G] NM_002485 NBN EXON Missense_F263S exm709157 8 90982713 [T/C] NM_002485 NBN EXON Missense_E259K exm709164 8 90983475 [A/C] NM_002485 NBN EXON Missense_V210F exm709167 8 90990479 [G/C] NM_002485 NBN EXON Missense_E185Q exm709169 8 90990521 [T/C] NM_002485 NBN EXON Missense_I171V exm709172 8 90992986 [T/C] NM_002485 NBN EXON Missense_M152I exm709185 8 90993640 [T/C] NM_002485 NBN EXON Missense_D95N exm709186 8 90993645 [A/G] NM_002485 NBN EXON Missense_S93L exm709249 8 91049074 [A/G] NM_001359 DECR1 EXON Missense_A191T exm709256 8 91054991 [A/G] NM_001359 DECR1 EXON Missense_R234Q exm709262 8 91057198 [A/G] NM_001359 DECR1 EXON Missense_D287G exm709263 8 91057221 [A/G] NM_001359 DECR1 EXON Missense_A295T exm2177452 8 91064118 [G/C] NM_001359 DECR1 EXON Missense_G334A exm709298 8 91094898 [C/G] NM_004929 CALB1 EXON Missense_L10V exm-rs4961182 8 91210472 [A/G] exm2270996 8 91284182 [T/C] NR_051989 LINC00534 Silent exm2270889 8 91397407 [T/C] NR_051989 LINC00534 Silent exm709304 8 91637924 [A/G] NM_001008495,NM_001146273 TMEM64,TMEM64 EXON Missense_S373F,Missense_S321F exm709346 8 91937866 [T/G] NM_022351 NECAB1 EXON Missense_F200V exm709347 8 91937883 [A/G] NM_022351 NECAB1 EXON Synonymous_P205P exm709349 8 91940452 [T/C] NM_022351 NECAB1 EXON Synonymous_G206G exm2177486 8 91953077 [A/G] NM_022351 NECAB1 EXON Missense_A271T exm709359 8 91953107 [T/C] NM_022351 NECAB1 EXON Missense_S281P exm709373 8 92008044 [A/C] NM_018710 TMEM55A EXON Missense_G212V exm709390 8 92033484 [T/C] NM_018710 TMEM55A EXON Synonymous_T85T exm709396 8 92033632 [A/G] NM_018710 TMEM55A EXON Missense_A36V exm709405 8 92082574 [A/G] NM_016023 OTUD6B EXON Missense_R18G exm2276022 8 92082576 [A/G] NM_016023 OTUD6B EXON Synonymous_R18R exm709406 8 92082598 [A/G] NM_016023 OTUD6B EXON Missense_G26R exm2259010 8 92086127 [A/G] NM_016023 OTUD6B EXON Synonymous_A131A exm709422 8 92090645 [A/C] NM_016023 OTUD6B EXON Missense_N156T exm709423 8 92090657 [A/C] NM_016023 OTUD6B EXON Missense_A160D exm2270890 8 92091710 [T/C] NM_016023 OTUD6B Silent exm709431 8 92092926 [A/G] NM_016023 OTUD6B EXON Missense_V250I exm709439 8 92097062 [A/G] NM_016023 OTUD6B EXON Missense_R313Q exm709441 8 92114936 [T/C] NM_001129890 LRRC69 EXON Missense_T16M exm709456 8 92147930 [T/A] NM_001129890 LRRC69 EXON Missense_D205V exm709460 8 92201837 [A/G] NM_001129890 LRRC69 EXON Missense_V247I exm709461 8 92201844 [A/G] NM_001129890 LRRC69 EXON Missense_S249N exm709464 8 92212910 [T/C] NM_001129890 LRRC69 EXON Missense_R275W exm709472 8 92261950 [T/C] NM_134266,NM_052832 SLC26A7,SLC26A7 EXON Missense_I24T,Missense_I24T exm709475 8 92262043 [T/A] NM_134266,NM_052832 SLC26A7,SLC26A7 EXON Missense_I55K,Missense_I55K exm709482 8 92307854 [A/G] NM_134266,NM_052832 SLC26A7,SLC26A7 EXON Missense_V134M,Missense_V134M exm709489 8 92330478 [T/C] NM_134266,NM_052832 SLC26A7,SLC26A7 EXON Missense_T171I,Missense_T171I exm709497 8 92346523 [A/G] NM_134266,NM_052832 SLC26A7,SLC26A7 EXON Missense_I215V,Missense_I215V exm2259012 8 92352674 [A/G] NM_134266,NM_052832 SLC26A7,SLC26A7 EXON Synonymous_A307A,Synonymous_A307A exm709515 8 92355599 [T/C] NM_134266,NM_052832 SLC26A7,SLC26A7 EXON Missense_L349F,Missense_L349F exm709532 8 92365184 [A/G] NM_134266,NM_052832 SLC26A7,SLC26A7 EXON Missense_R425Q,Missense_R425Q exm709534 8 92374629 [A/G] NM_134266,NM_052832 SLC26A7,SLC26A7 EXON Missense_V455M,Missense_V455M exm709544 8 92378838 [A/G] NM_134266,NM_052832 SLC26A7,SLC26A7 EXON Missense_I507V,Missense_I507V exm709546 8 92378880 [A/G] NM_134266,NM_052832 SLC26A7,SLC26A7 EXON Missense_T521A,Missense_T521A exm709547 8 92378897 [A/G] NM_134266,NM_052832 SLC26A7,SLC26A7 EXON Missense_M526I,Missense_M526I exm709552 8 92382023 [A/G] NM_134266,NM_052832 SLC26A7,SLC26A7 EXON Missense_N546S,Missense_N546S exm709557 8 92401602 [A/C] NM_134266,NM_052832 SLC26A7,SLC26A7 EXON Missense_Y571S,Missense_Y571S exm709563 8 92406217 [A/G] NM_134266,NM_052832 SLC26A7,SLC26A7 EXON Missense_I629V,Missense_I629V exm709564 8 92406220 [T/G] NM_134266,NM_052832 SLC26A7,SLC26A7 EXON Missense_F630V,Missense_F630V exm2266747 8 92588984 [A/G] exm2270891 8 92775372 [T/G] exm709603 8 92998402 [G/C] NM_001198633,NM_001198626,NM_175634,NM_001198630,NM_001198679,NM_175636,NM_001198631,NM_001198632,NM_001198625,NM_001198627,NM_004349,NM_001198629,NM_001198634,NM_175635,NM_001198628 RUNX1T1,RUNX1T1,RUNX1T1,RUNX1T1,RUNX1T1,RUNX1T1,RUNX1T1,RUNX1T1,RUNX1T1,RUNX1T1,RUNX1T1,RUNX1T1,RUNX1T1,RUNX1T1,RUNX1T1 EXON Missense_S390T,Missense_S410T,Missense_S410T,Missense_S410T,Missense_S469T,Missense_S373T,Missense_S410T,Missense_S383T,Missense_S383T,Missense_S410T,Missense_S383T,Missense_S410T,Missense_S421T,Missense_S373T,Missense_S410T exm709649 8 93088195 [T/C] NM_001198633,NM_001198626,NM_175634,NM_001198630,NM_001198679,NM_001198631,NM_001198632,NM_001198625,NM_001198627,NM_001198629,NM_001198634,NM_175635,NM_001198628 RUNX1T1,RUNX1T1,RUNX1T1,RUNX1T1,RUNX1T1,RUNX1T1,RUNX1T1,RUNX1T1,RUNX1T1,RUNX1T1,RUNX1T1,RUNX1T1,RUNX1T1 EXON Silent,Missense_Q29R,Missense_Q29R,Missense_Q29R,Silent,Missense_Q29R,Silent,Silent,Missense_Q29R,Missense_Q29R,Silent,Silent,Missense_Q29R exm709650 8 93088222 [T/C] NM_001198633,NM_001198626,NM_175634,NM_001198630,NM_001198679,NM_001198631,NM_001198632,NM_001198625,NM_001198627,NM_001198629,NM_001198634,NM_175635,NM_001198628 RUNX1T1,RUNX1T1,RUNX1T1,RUNX1T1,RUNX1T1,RUNX1T1,RUNX1T1,RUNX1T1,RUNX1T1,RUNX1T1,RUNX1T1,RUNX1T1,RUNX1T1 EXON Silent,Missense_R20Q,Missense_R20Q,Missense_R20Q,Silent,Missense_R20Q,Silent,Silent,Missense_R20Q,Missense_R20Q,Silent,Silent,Missense_R20Q exm2259014 8 93201255 [T/G] exm2270893 8 93645236 [T/C] exm2270997 8 93698134 [T/C] exm2266656 8 94167259 [A/G] NM_001242668 C8orf87 Silent exm709665 8 94717177 [A/C] NM_145269 FAM92A1 EXON Missense_A124D exm709666 8 94717213 [A/G] NM_145269 FAM92A1 EXON Missense_R136Q exm709678 8 94738629 [A/G] NM_145269 FAM92A1 EXON Missense_R222Q exm2273449 8 94745597 [C/G] NM_203390 RBM12B EXON Silent exm709696 8 94745803 [A/G] NM_203390 RBM12B EXON Missense_H946Y exm709707 8 94746049 [T/G] NM_203390 RBM12B EXON Missense_N864H exm709711 8 94746196 [A/G] NM_203390 RBM12B EXON Missense_P815S exm709737 8 94746512 [T/A] NM_203390 RBM12B EXON Missense_H709Q exm709742 8 94746585 [T/C] NM_203390 RBM12B EXON Missense_R685Q exm709763 8 94746819 [A/G] NM_203390 RBM12B EXON Missense_P607L exm2177646 8 94746825 [T/C] NM_203390 RBM12B EXON Missense_R605H exm709765 8 94746850 [A/G] NM_203390 RBM12B EXON Missense_R597C exm2276023 8 94746933 [A/G] NM_203390 RBM12B EXON Missense_P569L exm709781 8 94747147 [A/G] NM_203390 RBM12B EXON Missense_R498C exm709790 8 94747489 [T/C] NM_203390 RBM12B EXON Missense_G384R exm709791 8 94747496 [A/C] NM_203390 RBM12B EXON Missense_D381E exm709793 8 94747567 [T/C] NM_203390 RBM12B EXON Missense_I358V exm709800 8 94747803 [T/C] NM_203390 RBM12B EXON Missense_R279H exm709812 8 94748263 [T/C] NM_203390 RBM12B EXON Missense_I126V exm2177656 8 94748371 [A/G] NM_203390 RBM12B EXON Missense_R90C exm2177663 8 94767139 [T/G] NM_153704,NM_001142301,NR_024522 TMEM67,TMEM67,TMEM67 EXON Silent,Silent,Silent exm709825 8 94767167 [A/G] NM_153704,NM_001142301,NR_024522 TMEM67,TMEM67,TMEM67 EXON Missense_V9M,Silent,Silent exm709829 8 94767249 [T/C] NM_153704,NM_001142301,NR_024522 TMEM67,TMEM67,TMEM67 EXON Missense_A36V,Silent,Silent exm709846 8 94772165 [T/C] NM_153704,NM_001142301,NR_024522 TMEM67,TMEM67,TMEM67 EXON Silent,Missense_P36L,Silent exm709853 8 94777638 [A/G] NM_153704,NM_001142301,NR_024522 TMEM67,TMEM67,TMEM67 EXON Missense_V171I,Missense_V90I,Silent exm709860 8 94777845 [A/T] NM_153704,NM_001142301,NR_024522 TMEM67,TMEM67,TMEM67 EXON Nonsense_R208X,Nonsense_R127X,Silent exm709865 8 94784818 [G/C] NM_153704,NM_001142301,NR_024522 TMEM67,TMEM67,TMEM67 EXON Missense_G218A,Missense_G137A,Silent exm2177681 8 94792828 [C/G] NM_153704,NM_001142301,NR_024522 TMEM67,TMEM67,TMEM67 EXON Missense_A241G,Missense_A160G,Silent exm709871 8 94792887 [A/G] NM_153704,NM_001142301,NR_024522 TMEM67,TMEM67,TMEM67 EXON Missense_D261N,Missense_D180N,Silent exm709876 8 94793190 [T/A] NM_153704,NM_001142301,NR_024522 TMEM67,TMEM67,TMEM67 EXON Missense_S320C,Missense_S239C,Silent exm709881 8 94794635 [A/G] NM_153704,NM_001142301,NR_024522 TMEM67,TMEM67,TMEM67 EXON Missense_T360A,Missense_T279A,Silent exm709885 8 94798471 [G/C] NM_153704,NM_001142301,NR_024522 TMEM67,TMEM67,TMEM67 EXON Missense_L437V,Missense_L356V,Silent exm709892 8 94800161 [A/C] NM_153704,NM_001142301,NR_024522 TMEM67,TMEM67,TMEM67 EXON Missense_N501T,Missense_N420T,Silent exm709894 8 94807662 [A/G] NM_153704,NM_001142301,NR_024522 TMEM67,TMEM67,TMEM67 EXON Missense_Y567C,Missense_Y486C,Silent exm709899 8 94808165 [A/G] NM_153704,NM_001142301,NR_024522 TMEM67,TMEM67,TMEM67 EXON Missense_I604V,Missense_I523V,Silent exm709900 8 94808177 [C/G] NM_153704,NM_001142301,NR_024522 TMEM67,TMEM67,TMEM67 EXON Missense_R608G,Missense_R527G,Silent exm709902 8 94808198 [T/C] NM_153704,NM_001142301,NR_024522 TMEM67,TMEM67,TMEM67 EXON Missense_C615R,Missense_C534R,Silent exm709909 8 94811906 [T/C] NM_153704,NM_001142301,NR_024522 TMEM67,TMEM67,TMEM67 EXON Missense_P721S,Missense_P640S,Silent exm709911 8 94811986 [A/G] NM_153704,NM_001142301,NR_024522 TMEM67,TMEM67,TMEM67 EXON Synonymous_Q747Q,Synonymous_Q666Q,Silent exm709914 8 94815889 [A/G] NM_153704,NM_001142301,NR_024522 TMEM67,TMEM67,TMEM67 EXON Missense_V767I,Missense_V686I,Silent exm709916 8 94816990 [A/G] NM_153704,NM_001142301,NR_024522 TMEM67,TMEM67,TMEM67 EXON Missense_I775V,Missense_I694V,Silent exm2247228 8 94821294 [A/C] NM_153704,NM_001142301,NR_024522 TMEM67,TMEM67,TMEM67 EXON Missense_P856T,Missense_P775T,Silent exm709932 8 94828642 [A/G] NM_153704,NM_001142301,NR_024522 TMEM67,TMEM67,TMEM67 EXON Missense_A984T,Missense_A903T,Silent exm2266657 8 94895433 [A/G] exm2266748 8 94915411 [A/G] exm709943 8 94934415 [A/G] NM_018444,NM_001161780,NM_001161779,NM_001161781 PDP1,PDP1,PDP1,PDP1 EXON Missense_R43Q,Missense_R68Q,Missense_R68Q,Missense_R43Q exm2177728 8 94934441 [T/C] NM_018444,NM_001161780,NM_001161779,NM_001161781 PDP1,PDP1,PDP1,PDP1 EXON Missense_Y52H,Missense_Y77H,Missense_Y77H,Missense_Y52H exm709949 8 94934664 [A/G] NM_018444,NM_001161780,NM_001161779,NM_001161781 PDP1,PDP1,PDP1,PDP1 EXON Missense_R126Q,Missense_R151Q,Missense_R151Q,Missense_R126Q exm709991 8 95140468 [T/G] NM_001144663,NM_004063 CDH17,CDH17 EXON Missense_X833C,Missense_X833C exm709993 8 95140503 [T/C] NM_001144663,NM_004063 CDH17,CDH17 EXON Missense_A822T,Missense_A822T exm710004 8 95143155 [A/G] NM_001144663,NM_004063 CDH17,CDH17 EXON Missense_R745C,Missense_R745C exm710006 8 95143172 [T/G] NM_001144663,NM_004063 CDH17,CDH17 EXON Missense_E739A,Missense_E739A exm710007 8 95143177 [G/C] NM_001144663,NM_004063 CDH17,CDH17 EXON Missense_E737D,Missense_E737D exm710010 8 95158177 [A/G] NM_001144663,NM_004063 CDH17,CDH17 EXON Missense_W716R,Missense_W716R exm710014 8 95158245 [T/C] NM_001144663,NM_004063 CDH17,CDH17 EXON Missense_D693G,Missense_D693G exm710021 8 95158369 [T/C] NM_001144663,NM_004063 CDH17,CDH17 EXON Missense_E652K,Missense_E652K exm2177756 8 95161011 [T/C] NM_001144663,NM_004063 CDH17,CDH17 EXON Missense_G630R,Missense_G630R exm710027 8 95161080 [T/C] NM_001144663,NM_004063 CDH17,CDH17 EXON Missense_R607G,Missense_R607G exm710028 8 95161082 [T/G] NM_001144663,NM_004063 CDH17,CDH17 EXON Missense_T606K,Missense_T606K exm710030 8 95161102 [A/G] NM_001144663,NM_004063 CDH17,CDH17 EXON Synonymous_S599S,Synonymous_S599S exm710033 8 95164124 [A/C] NM_001144663,NM_004063 CDH17,CDH17 EXON Missense_A590S,Missense_A590S exm710045 8 95172254 [T/C] NM_001144663,NM_004063 CDH17,CDH17 EXON Missense_R499H,Missense_R499H exm710046 8 95172255 [A/G] NM_001144663,NM_004063 CDH17,CDH17 EXON Missense_R499C,Missense_R499C exm710047 8 95172383 [T/C] NM_001144663,NM_004063 CDH17,CDH17 EXON Missense_N456S,Missense_N456S exm710058 8 95178096 [A/C] NM_001144663,NM_004063 CDH17,CDH17 EXON Missense_G392V,Missense_G392V exm710062 8 95178186 [A/C] NM_001144663,NM_004063 CDH17,CDH17 EXON Missense_L362R,Missense_L362R exm710065 8 95182630 [T/C] NM_001144663,NM_004063 CDH17,CDH17 EXON Missense_R354Q,Missense_R354Q exm710079 8 95182763 [T/C] NM_001144663,NM_004063 CDH17,CDH17 EXON Missense_A310T,Missense_A310T exm710083 8 95183099 [A/G] NM_001144663,NM_004063 CDH17,CDH17 EXON Nonsense_R300X,Nonsense_R300X exm710084 8 95183118 [A/G] NM_001144663,NM_004063 CDH17,CDH17 EXON Synonymous_Y293Y,Synonymous_Y293Y exm2259021 8 95183118 [A/G] NM_001144663,NM_004063 CDH17,CDH17 EXON Synonymous_Y293Y,Synonymous_Y293Y exm710087 8 95183176 [A/G] NM_001144663,NM_004063 CDH17,CDH17 EXON Missense_V274A,Missense_V274A exm710089 8 95183191 [A/G] NM_001144663,NM_004063 CDH17,CDH17 EXON Missense_A269V,Missense_A269V exm710097 8 95186213 [T/A] NM_001144663,NM_004063 CDH17,CDH17 EXON Missense_L199M,Missense_L199M exm710103 8 95186386 [T/C] NM_001144663,NM_004063 CDH17,CDH17 EXON Missense_N176S,Missense_N176S exm710112 8 95188850 [T/C] NM_001144663,NM_004063 CDH17,CDH17 EXON Missense_K115E,Missense_K115E exm710114 8 95188906 [A/G] NM_001144663,NM_004063 CDH17,CDH17 EXON Missense_V96A,Missense_V96A exm710121 8 95201468 [A/G] NM_001144663,NM_004063 CDH17,CDH17 EXON Missense_P33S,Missense_P33S exm-rs2445705 8 95238033 [A/C] exm710127 8 95262626 [T/C] NM_005261,NM_181702 GEM,GEM EXON Missense_R268H,Missense_R268H exm710129 8 95262656 [A/C] NM_005261,NM_181702 GEM,GEM EXON Missense_R258M,Missense_R258M exm710132 8 95262678 [A/G] NM_005261,NM_181702 GEM,GEM EXON Missense_R251W,Missense_R251W exm710133 8 95262690 [T/C] NM_005261,NM_181702 GEM,GEM EXON Missense_E247K,Missense_E247K exm710136 8 95262711 [A/G] NM_005261,NM_181702 GEM,GEM EXON Missense_R240C,Missense_R240C exm710141 8 95264265 [A/G] NM_005261,NM_181702 GEM,GEM EXON Nonsense_R199X,Nonsense_R199X exm2177800 8 95272549 [G/C] NM_005261,NM_181702 GEM,GEM EXON Missense_D61E,Missense_D61E exm710161 8 95272598 [T/C] NM_005261,NM_181702 GEM,GEM EXON Missense_R45H,Missense_R45H exm710165 8 95272620 [A/G] NM_005261,NM_181702 GEM,GEM EXON Missense_H38Y,Missense_H38Y exm710168 8 95384436 [T/C] NM_012415,NM_001205263 RAD54B,RAD54B EXON Missense_I899V,Missense_I715V exm710172 8 95384492 [T/C] NM_012415,NM_001205263 RAD54B,RAD54B EXON Missense_D880G,Missense_D696G exm710177 8 95390452 [T/C] NM_012415,NM_001205263 RAD54B,RAD54B EXON Missense_H824R,Missense_H640R exm710179 8 95390578 [T/C] NM_012415,NM_001205263 RAD54B,RAD54B EXON Missense_Q782R,Missense_Q598R exm2177807 8 95390591 [T/C] NM_012415,NM_001205263 RAD54B,RAD54B EXON Missense_I778V,Missense_I594V exm2247235 8 95392437 [T/A] NM_012415,NM_001205263 RAD54B,RAD54B EXON Missense_N728I,Missense_N544I exm2177808 8 95392557 [A/G] NM_012415,NM_001205263 RAD54B,RAD54B EXON Missense_T688I,Missense_T504I exm710193 8 95392575 [T/C] NM_012415,NM_001205263 RAD54B,RAD54B EXON Missense_R682H,Missense_R498H exm710194 8 95392585 [C/G] NM_012415,NM_001205263 RAD54B,RAD54B EXON Missense_V679L,Missense_V495L exm710199 8 95399267 [G/C] NM_012415,NM_001205263 RAD54B,RAD54B EXON Missense_L644V,Missense_L460V exm710200 8 95399308 [A/T] NM_012415,NM_001205263 RAD54B,RAD54B EXON Missense_D630V,Missense_D446V exm710204 8 95399369 [T/G] NM_012415,NM_001205263 RAD54B,RAD54B EXON Missense_T610P,Missense_T426P exm710207 8 95403847 [T/C] NM_012415,NM_001205263 RAD54B,RAD54B EXON Missense_N600S,Missense_N416S exm710208 8 95403868 [T/C] NM_012415,NM_001205263 RAD54B,RAD54B EXON Missense_N593S,Missense_N409S exm710210 8 95403895 [T/C] NM_012415,NM_001205263 RAD54B,RAD54B EXON Missense_C584Y,Missense_C400Y exm710214 8 95404046 [T/C] NM_012415,NM_001205263 RAD54B,RAD54B EXON Missense_I534V,Missense_I350V exm710217 8 95404100 [T/C] NM_012415,NM_001205263 RAD54B,RAD54B EXON Missense_A516T,Missense_A332T exm710239 8 95416309 [A/T] NM_012415,NM_001205263 RAD54B,RAD54B EXON Missense_M314L,Missense_M130L exm2259023 8 95419698 [A/G] NM_012415,NM_001205263 RAD54B,RAD54B EXON Synonymous_N250N,Synonymous_N66N exm710252 8 95419819 [A/G] NM_012415,NM_001205263 RAD54B,RAD54B EXON Missense_L210P,Missense_L26P exm710253 8 95419829 [A/C] NM_012415,NM_001205263 RAD54B,RAD54B EXON Missense_C207G,Missense_C23G exm710266 8 95470511 [G/C] NM_012415,NM_001205262 RAD54B,RAD54B EXON Missense_D97H,Missense_D97H exm710267 8 95470528 [A/G] NM_012415,NM_001205262 RAD54B,RAD54B EXON Missense_P91L,Missense_P91L exm710268 8 95470553 [T/C] NM_012415,NM_001205262 RAD54B,RAD54B EXON Missense_S83G,Missense_S83G exm710273 8 95479680 [C/G] NM_012415,NM_001205262 RAD54B,RAD54B EXON Missense_L30V,Missense_L30V exm710276 8 95479761 [A/G] NM_012415,NM_001205262 RAD54B,RAD54B EXON Nonsense_R3X,Nonsense_R3X exm710282 8 95501082 [T/C] NM_015496 KIAA1429 EXON Missense_R1764H exm710284 8 95502257 [T/C] NM_015496 KIAA1429 EXON Missense_T1732A exm710304 8 95507174 [A/C] NM_015496 KIAA1429 EXON Missense_V1519L exm710338 8 95518906 [T/C] NM_015496 KIAA1429 EXON Missense_I1307V exm710353 8 95522727 [T/C] NM_015496 KIAA1429 EXON Missense_V1182I exm710362 8 95523385 [T/C] NM_015496,NM_183009 KIAA1429,KIAA1429 EXON Silent,Missense_I1140V exm710374 8 95523790 [T/C] NM_015496,NM_183009 KIAA1429,KIAA1429 EXON Missense_M1005V,Missense_M1005V exm710375 8 95523796 [T/C] NM_015496,NM_183009 KIAA1429,KIAA1429 EXON Missense_I1003V,Missense_I1003V exm2247238 8 95523856 [T/G] NM_015496,NM_183009 KIAA1429,KIAA1429 EXON Missense_L983M,Missense_L983M exm710379 8 95523925 [T/C] NM_015496,NM_183009 KIAA1429,KIAA1429 EXON Missense_V960I,Missense_V960I exm710392 8 95530099 [A/G] NM_015496,NM_183009 KIAA1429,KIAA1429 EXON Missense_S862F,Missense_S862F exm710395 8 95531310 [A/G] NM_015496,NM_183009 KIAA1429,KIAA1429 EXON Missense_P806S,Missense_P806S exm710397 8 95531387 [T/C] NM_015496,NM_183009 KIAA1429,KIAA1429 EXON Missense_R780H,Missense_R780H exm710402 8 95531442 [T/G] NM_015496,NM_183009 KIAA1429,KIAA1429 EXON Missense_Q762K,Missense_Q762K exm710404 8 95531469 [T/C] NM_015496,NM_183009 KIAA1429,KIAA1429 EXON Missense_I753V,Missense_I753V exm2177864 8 95531487 [A/G] NM_015496,NM_183009 KIAA1429,KIAA1429 EXON Missense_L747F,Missense_L747F exm710409 8 95531622 [T/G] NM_015496,NM_183009 KIAA1429,KIAA1429 EXON Missense_Q702K,Missense_Q702K exm710418 8 95538472 [T/C] NM_015496,NM_183009 KIAA1429,KIAA1429 EXON Missense_D667G,Missense_D667G exm710419 8 95538484 [A/G] NM_015496,NM_183009 KIAA1429,KIAA1429 EXON Missense_P663L,Missense_P663L exm710422 8 95538641 [T/C] NM_015496,NM_183009 KIAA1429,KIAA1429 EXON Missense_M611V,Missense_M611V exm710430 8 95538883 [T/C] NM_015496,NM_183009 KIAA1429,KIAA1429 EXON Missense_G530D,Missense_G530D exm710439 8 95539192 [G/C] NM_015496,NM_183009 KIAA1429,KIAA1429 EXON Missense_S427C,Missense_S427C exm710459 8 95541459 [A/C] NM_015496,NM_183009 KIAA1429,KIAA1429 EXON Missense_V240G,Missense_V240G exm710460 8 95541487 [C/G] NM_015496,NM_183009 KIAA1429,KIAA1429 EXON Missense_E231Q,Missense_E231Q exm710472 8 95547117 [A/G] NM_015496,NM_183009 KIAA1429,KIAA1429 EXON Missense_P145L,Missense_P145L exm710483 8 95550513 [T/C] NM_015496,NM_183009 KIAA1429,KIAA1429 EXON Missense_A81T,Missense_A81T exm710496 8 95654206 [T/C] NM_001034915,NM_001122827,NM_001122826,NM_017697,NM_001122825 ESRP1,ESRP1,ESRP1,ESRP1,ESRP1 EXON Missense_L52P,Missense_L52P,Missense_L52P,Missense_L52P,Missense_L52P exm710498 8 95654310 [A/C] NM_001034915,NM_001122827,NM_001122826,NM_017697,NM_001122825 ESRP1,ESRP1,ESRP1,ESRP1,ESRP1 EXON Missense_Q87K,Missense_Q87K,Missense_Q87K,Missense_Q87K,Missense_Q87K exm710510 8 95658495 [A/G] NM_001034915,NM_001122827,NM_001122826,NM_017697,NM_001122825 ESRP1,ESRP1,ESRP1,ESRP1,ESRP1 EXON Missense_A159T,Missense_A159T,Missense_A159T,Missense_A159T,Missense_A159T exm710517 8 95676956 [A/G] NM_001034915,NM_001122827,NM_001122826,NM_017697,NM_001122825 ESRP1,ESRP1,ESRP1,ESRP1,ESRP1 EXON Missense_V226I,Missense_V226I,Missense_V226I,Missense_V226I,Missense_V226I exm710530 8 95680338 [C/G] NM_001034915,NM_001122827,NM_001122826,NM_017697,NM_001122825 ESRP1,ESRP1,ESRP1,ESRP1,ESRP1 EXON Missense_P365A,Missense_P365A,Missense_P365A,Missense_P365A,Missense_P365A exm710546 8 95686618 [A/C] NM_001034915,NM_001122827,NM_001122826,NM_017697,NM_001122825 ESRP1,ESRP1,ESRP1,ESRP1,ESRP1 EXON Missense_N512T,Missense_N512T,Missense_N512T,Missense_N512T,Missense_N512T exm2266749 8 95689312 [A/G] NM_001034915,NM_001122827,NM_001122826,NM_017697,NM_001122825 ESRP1,ESRP1,ESRP1,ESRP1,ESRP1 Silent,Silent,Silent,Silent,Silent exm2273450 8 95719387 [A/T] NM_001034915,NM_001122827,NM_001122826,NM_017697,NM_001122825 ESRP1,ESRP1,ESRP1,ESRP1,ESRP1 EXON Silent,Silent,Silent,Silent,Silent exm710570 8 95738586 [A/G] NM_181787 DPY19L4 EXON Missense_K15R exm710574 8 95738670 [A/G] NM_181787 DPY19L4 Silent exm2259027 8 95746907 [A/G] NM_181787 DPY19L4 EXON Synonymous_A59A exm710582 8 95750681 [C/G] NM_181787 DPY19L4 EXON Missense_E113Q exm710585 8 95751703 [A/C] NM_181787 DPY19L4 EXON Missense_Q136K exm710586 8 95751724 [T/C] NM_181787 DPY19L4 EXON Missense_L143F exm710589 8 95751934 [T/C] NM_181787 DPY19L4 EXON Missense_V176A exm710594 8 95751982 [T/C] NM_181787 DPY19L4 EXON Missense_A192V exm710599 8 95768292 [A/G] NM_181787 DPY19L4 EXON Missense_I214V exm710600 8 95768341 [T/C] NM_181787 DPY19L4 EXON Missense_A230V exm710601 8 95768346 [T/C] NM_181787 DPY19L4 EXON Missense_L232F exm710605 8 95777424 [A/G] NM_181787 DPY19L4 EXON Missense_Y295C exm710607 8 95777480 [C/G] NM_181787 DPY19L4 EXON Missense_A314P exm710608 8 95777489 [T/G] NM_181787 DPY19L4 EXON Missense_V317L exm710609 8 95777516 [C/G] NM_181787 DPY19L4 EXON Missense_A326P exm710618 8 95780683 [T/G] NM_181787 DPY19L4 EXON Missense_F412L exm2177985 8 95780738 [A/G] NM_181787 DPY19L4 EXON Missense_I431V exm2259028 8 95782690 [T/C] NM_181787 DPY19L4 EXON Synonymous_L449L exm710627 8 95782786 [T/A] NM_181787 DPY19L4 EXON Missense_M481L exm710635 8 95793310 [A/T] NM_181787 DPY19L4 Silent exm2177995 8 95800143 [T/C] NM_181787 DPY19L4 EXON Nonsense_R624X exm710650 8 95800230 [T/C] NM_181787 DPY19L4 EXON Missense_P653S exm710651 8 95800253 [A/C] NM_181787 DPY19L4 EXON Missense_K660N exm710653 8 95800266 [A/G] NM_181787 DPY19L4 EXON Missense_I665V exm710655 8 95800280 [T/C] NM_181787 DPY19L4 EXON Synonymous_H669H exm710657 8 95802019 [T/C] NM_181787 DPY19L4 EXON Nonsense_R685X exm2266658 8 95853708 [A/G] NM_017864,NR_073444,NR_073445 INTS8,INTS8,INTS8 Silent,Silent,Silent exm710693 8 95853722 [T/G] NM_017864,NR_073444,NR_073445 INTS8,INTS8,INTS8 EXON Missense_V341L,Silent,Silent exm710700 8 95854628 [A/G] NM_017864,NR_073444,NR_073445 INTS8,INTS8,INTS8 EXON Missense_R391H,Silent,Silent exm710703 8 95861739 [A/G] NM_017864,NR_073444,NR_073445 INTS8,INTS8,INTS8 EXON Missense_G437E,Silent,Silent exm710706 8 95862157 [A/G] NM_017864,NR_073444,NR_073445 INTS8,INTS8,INTS8 EXON Missense_G449R,Silent,Silent exm710709 8 95862197 [A/G] NM_017864,NR_073444,NR_073445 INTS8,INTS8,INTS8 EXON Missense_H462R,Silent,Silent exm710715 8 95863810 [C/G] NM_017864,NR_073444,NR_073445 INTS8,INTS8,INTS8 EXON Missense_E513Q,Silent,Silent exm710717 8 95863843 [A/G] NM_017864,NR_073444,NR_073445 INTS8,INTS8,INTS8 EXON Missense_R524G,Silent,Silent exm710719 8 95863909 [T/A] NM_017864,NR_073444,NR_073445 INTS8,INTS8,INTS8 EXON Missense_N546Y,Silent,Silent exm710730 8 95866082 [A/G] NM_017864,NR_073444,NR_073445 INTS8,INTS8,INTS8 EXON Missense_N564S,Silent,Silent exm710740 8 95871850 [A/C] NM_017864,NR_073444,NR_073445 INTS8,INTS8,INTS8 EXON Missense_P689Q,Silent,Silent exm710751 8 95878387 [A/C] NM_017864,NR_073444,NR_073445 INTS8,INTS8,INTS8 EXON Missense_S755R,Silent,Silent exm710761 8 95879419 [T/G] NM_017864,NR_073444,NR_073445 INTS8,INTS8,INTS8 EXON Missense_V783F,Silent,Silent exm710766 8 95879537 [A/G] NM_017864,NR_073444,NR_073445 INTS8,INTS8,INTS8 EXON Missense_I796V,Silent,Silent exm710767 8 95884143 [A/G] NM_017864,NR_073444,NR_073445 INTS8,INTS8,INTS8 EXON Missense_I816V,Silent,Silent exm710769 8 95884179 [A/G] NM_017864,NR_073444,NR_073445 INTS8,INTS8,INTS8 EXON Missense_I828V,Silent,Silent exm2178054 8 95885614 [A/G] NM_017864,NR_073444,NR_073445 INTS8,INTS8,INTS8 EXON Missense_Y849C,Silent,Silent exm710802 8 95893915 [T/C] NM_057749 CCNE2 EXON Missense_N387S exm710819 8 95897725 [T/G] NM_057749 CCNE2 EXON Missense_E221A exm710853 8 95942806 [G/C] NM_001135733,NM_033285 TP53INP1,TP53INP1 EXON Silent,Missense_S208R exm710875 8 95952338 [A/G] NM_001135733,NM_033285 TP53INP1,TP53INP1 EXON Missense_C75R,Missense_C75R exm-rs896854 8 95960511 [T/C] NM_001135733,NM_033285 TP53INP1,TP53INP1 Silent,Silent exm710899 8 96044300 [T/C] NM_152416 NDUFAF6 EXON Missense_A92V exm2247249 8 96047796 [G/C] NM_152416 NDUFAF6 EXON Missense_L138V exm710910 8 96057808 [C/G] NM_152416 NDUFAF6 EXON Missense_I171M exm710912 8 96057827 [C/G] NM_152416 NDUFAF6 EXON Missense_A178P exm710924 8 96064423 [A/G] NM_152416 NDUFAF6 EXON Missense_V280I exm-rs4392868 8 96120072 [A/G] exm-rs7000734 8 96127030 [A/G] exm2264301 8 96229436 [A/C] exm710951 8 96259948 [T/C] NM_177965 C8orf37 EXON Missense_K174R exm710952 8 96259957 [A/C] NM_177965 C8orf37 EXON Missense_I171R exm710955 8 96264437 [A/G] NM_177965 C8orf37 EXON Missense_S150L exm710956 8 96264450 [T/G] NM_177965 C8orf37 EXON Missense_M146L exm710958 8 96264494 [T/C] NM_177965 C8orf37 EXON Missense_R131H exm710961 8 96272735 [T/C] NM_177965 C8orf37 EXON Missense_N90S exm710968 8 96281363 [G/C] NM_177965,NR_038203,NR_038209,NR_038207,NR_038202,NR_038206,NR_038205,NR_038201,NR_038204,NR_038208 C8orf37,LOC100616530,LOC100616530,LOC100616530,LOC100616530,LOC100616530,LOC100616530,LOC100616530,LOC100616530,LOC100616530 EXON Missense_P19A,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm2262556 8 96534806 [T/C] NR_038203,NR_038209,NR_038207,NR_038202,NR_038206,NR_038205,NR_038201,NR_038204,NR_038208 LOC100616530,LOC100616530,LOC100616530,LOC100616530,LOC100616530,LOC100616530,LOC100616530,LOC100616530,LOC100616530 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm2270999 8 97022165 [T/G] exm710972 8 97156855 [A/G] NM_001001557 GDF6 EXON Missense_A435V exm2178186 8 97156888 [T/C] NM_001001557 GDF6 EXON Missense_K424R exm710989 8 97157293 [A/G] NM_001001557 GDF6 EXON Missense_L289P exm711004 8 97172565 [T/C] NM_001001557 GDF6 EXON Missense_Q119R exm711009 8 97172671 [T/C] NM_001001557 GDF6 EXON Missense_E84K exm711013 8 97172796 [A/C] NM_001001557 GDF6 EXON Missense_G42V exm711027 8 97244011 [T/G] NM_001254752,NM_006294,NR_045639,NM_001199975 UQCRB,UQCRB,UQCRB,UQCRB EXON Missense_K83N,Missense_K83N,Silent,Missense_K51N exm711030 8 97244082 [A/T] NM_001254752,NM_006294,NR_045639,NM_001199975 UQCRB,UQCRB,UQCRB,UQCRB EXON Missense_M60L,Missense_M60L,Silent,Missense_M28L exm711042 8 97245407 [T/C] NM_001254752,NM_006294,NR_045639,NM_001199975 UQCRB,UQCRB,UQCRB,UQCRB EXON Missense_N23S,Missense_N23S,Silent,Silent exm711051 8 97247771 [A/G] NM_001254752,NM_006294,NR_045639,NM_001199975 UQCRB,UQCRB,UQCRB,UQCRB EXON Silent,Silent,Silent,Silent exm711056 8 97251842 [T/A] NM_015942 MTERFD1 EXON Nonsense_Y377X exm2259032 8 97256207 [T/C] NM_015942 MTERFD1 EXON Synonymous_T333T exm2247251 8 97256241 [A/G] NM_015942 MTERFD1 EXON Missense_M322T exm711069 8 97258138 [T/G] NM_015942 MTERFD1 EXON Missense_L283I exm711084 8 97269192 [A/G] NM_015942 MTERFD1 EXON Missense_L162P exm711085 8 97269208 [C/G] NM_015942 MTERFD1 EXON Missense_Q157E exm711089 8 97269313 [T/C] NM_015942 MTERFD1 EXON Missense_M122V exm711090 8 97269324 [T/G] NM_015942 MTERFD1 EXON Missense_P118Q exm711097 8 97270767 [T/C] NM_015942 MTERFD1 EXON Missense_N51S exm711099 8 97270825 [T/C] NM_015942 MTERFD1 EXON Missense_R32G exm711100 8 97270833 [T/C] NM_015942 MTERFD1 EXON Missense_R29H exm711102 8 97270861 [A/G] NM_015942 MTERFD1 EXON Missense_L20F exm711103 8 97270895 [T/C] NM_015942 MTERFD1 EXON Missense_I8M exm711111 8 97285561 [A/G] NM_014754 PTDSS1 EXON Missense_G72S exm711112 8 97285617 [T/C] NM_014754 PTDSS1 EXON Synonymous_N90N exm711128 8 97316375 [T/C] NM_014754 PTDSS1 EXON Missense_V287A exm711153 8 97343276 [T/G] NM_014754 PTDSS1 EXON Missense_G422V exm2247253 8 97343287 [A/C] NM_014754 PTDSS1 EXON Missense_P426T exm711167 8 97506503 [T/C] NM_002998 SDC2 EXON Missense_R2W exm-rs2575735 8 97534651 [T/C] NM_002998 SDC2 Silent exm711172 8 97605735 [A/C] NM_002998 SDC2 EXON Missense_M30L exm711180 8 97614625 [A/G] NM_002998 SDC2 EXON Missense_A59T exm711182 8 97614661 [A/T] NM_002998 SDC2 EXON Missense_S71T exm711194 8 97620579 [A/G] NM_002998 SDC2 EXON Missense_D108G exm711196 8 97620629 [A/G] NM_002998 SDC2 EXON Missense_E125K exm711200 8 97621619 [T/C] NM_002998 SDC2 EXON Missense_I150T exm711209 8 97797213 [A/G] NM_016134 CPQ EXON Missense_K30E exm711210 8 97797231 [A/G] NM_016134 CPQ EXON Missense_I36V exm711211 8 97797273 [A/G] NM_016134 CPQ EXON Missense_I50V exm711215 8 97797399 [T/G] NM_016134 CPQ EXON Missense_Y92D exm711216 8 97797442 [A/G] NM_016134 CPQ EXON Missense_E106G exm711220 8 97797538 [A/G] NM_016134 CPQ EXON Missense_S138N exm711222 8 97847219 [T/C] NM_016134 CPQ EXON Missense_L151P exm711232 8 97847377 [A/G] NM_016134 CPQ EXON Missense_I204V exm711234 8 97847386 [A/G] NM_016134 CPQ EXON Missense_V207M exm2266659 8 97871757 [A/G] NM_016134 CPQ Silent exm2178284 8 97892048 [T/C] NM_016134 CPQ EXON Missense_Y222H exm711240 8 97892119 [A/G] NM_016134 CPQ EXON Missense_M245I exm711242 8 97892201 [C/G] NM_016134 CPQ EXON Missense_A273P exm711243 8 97892231 [C/G] NM_016134 CPQ EXON Missense_Q283E exm711246 8 97978172 [A/G] NM_016134 CPQ EXON Missense_V287I exm711248 8 97978245 [A/G] NM_016134 CPQ EXON Nonsense_W311X exm711252 8 98041637 [A/G] NM_016134 CPQ EXON Missense_R323H exm2264320 8 98059046 [A/C] NM_016134 CPQ Silent exm711267 8 98155253 [A/G] NM_016134 CPQ EXON Missense_S421G exm711270 8 98155286 [T/C] NM_016134 CPQ EXON Missense_F432L exm-rs1835740 8 98166913 [T/C] exm711284 8 98289031 [A/G] NM_033512 TSPYL5 EXON Missense_R348C exm711292 8 98289238 [T/C] NM_033512 TSPYL5 EXON Missense_S279G exm711297 8 98289285 [A/G] NM_033512 TSPYL5 EXON Missense_A263V exm711318 8 98289666 [A/G] NM_033512 TSPYL5 EXON Missense_P136L exm711322 8 98289721 [T/C] NM_033512 TSPYL5 EXON Missense_A118T exm711324 8 98289922 [T/C] NM_033512 TSPYL5 EXON Missense_A51T exm2271000 8 98451430 [T/C] exm2270897 8 98600977 [T/C] exm711340 8 98656894 [A/G] NM_178812 MTDH EXON Missense_V54M exm2247256 8 98703202 [A/C] NM_178812 MTDH EXON Missense_N278K exm711377 8 98731338 [A/G] NM_178812 MTDH EXON Missense_R481H exm711399 8 98787983 [A/G] NM_018407 LAPTM4B EXON Missense_V7I exm711418 8 98788288 [C/G] NM_018407 LAPTM4B EXON Missense_L108F exm711430 8 98817579 [T/A] NM_018407 LAPTM4B Silent exm711432 8 98817630 [T/C] NM_018407 LAPTM4B EXON Missense_P141L exm711434 8 98817635 [C/G] NM_018407 LAPTM4B EXON Missense_Q143E exm711452 8 98828352 [T/G] NM_018407 LAPTM4B EXON Missense_V209F exm711454 8 98828401 [A/G] NM_018407 LAPTM4B EXON Missense_R225Q exm711456 8 98831425 [A/C] NM_018407 LAPTM4B EXON Missense_L247I exm2178341 8 98831434 [A/C] NM_018407 LAPTM4B EXON Missense_L250I exm711472 8 98863677 [T/C] NM_018407 LAPTM4B EXON Missense_P310L exm711473 8 98863680 [T/C] NM_018407 LAPTM4B EXON Missense_P311L exm711477 8 98900369 [G/C] NM_030583,NM_002380 MATN2,MATN2 EXON Missense_G14A,Missense_G14A exm711481 8 98900405 [A/G] NM_030583,NM_002380 MATN2,MATN2 EXON Missense_R26Q,Missense_R26Q exm711482 8 98900410 [T/C] NM_030583,NM_002380 MATN2,MATN2 EXON Missense_R28C,Missense_R28C exm711485 8 98943205 [T/C] NM_030583,NM_002380 MATN2,MATN2 EXON Missense_A56V,Missense_A56V exm711492 8 98943362 [G/C] NM_030583,NM_002380 MATN2,MATN2 EXON Missense_E108D,Missense_E108D exm711505 8 98943499 [T/C] NM_030583,NM_002380 MATN2,MATN2 EXON Missense_A154V,Missense_A154V exm711514 8 98943570 [A/G] NM_030583,NM_002380 MATN2,MATN2 EXON Missense_A178T,Missense_A178T exm711517 8 98943592 [A/G] NM_030583,NM_002380 MATN2,MATN2 EXON Missense_R185Q,Missense_R185Q exm711519 8 98943598 [T/C] NM_030583,NM_002380 MATN2,MATN2 EXON Missense_T187M,Missense_T187M exm711535 8 98973654 [T/C] NM_030583,NM_002380 MATN2,MATN2 EXON Missense_M285T,Missense_M285T exm711537 8 98973696 [A/G] NM_030583,NM_002380 MATN2,MATN2 EXON Missense_G299D,Missense_G299D exm711544 8 98991129 [T/C] NM_030583,NM_002380 MATN2,MATN2 EXON Missense_A325V,Missense_A325V exm711547 8 98991158 [T/C] NM_030583,NM_002380 MATN2,MATN2 EXON Missense_C335R,Missense_C335R exm711550 8 98991221 [A/G] NM_030583,NM_002380 MATN2,MATN2 EXON Missense_K356E,Missense_K356E exm711557 8 99006789 [T/C] NM_030583,NM_002380 MATN2,MATN2 EXON Missense_L388P,Missense_L388P exm711562 8 99015936 [A/G] NM_030583,NM_002380 MATN2,MATN2 EXON Missense_V418I,Missense_V418I exm711564 8 99015973 [A/G] NM_030583,NM_002380 MATN2,MATN2 EXON Missense_R430H,Missense_R430H exm711573 8 99019456 [A/G] NM_030583,NM_002380 MATN2,MATN2 Silent,Silent exm711575 8 99019758 [A/G] NM_030583,NM_002380 MATN2,MATN2 EXON Missense_N501S,Missense_N501S exm711578 8 99019806 [A/G] NM_030583,NM_002380 MATN2,MATN2 EXON Missense_R517H,Missense_R517H exm711585 8 99028774 [A/C] NM_030583,NM_002380 MATN2,MATN2 EXON Missense_D527A,Missense_D527A exm711592 8 99028849 [T/C] NM_030583,NM_002380 MATN2,MATN2 EXON Missense_F552S,Missense_F552S exm711596 8 99030247 [A/C] NM_030583,NM_002380 MATN2,MATN2 EXON Missense_D574E,Missense_D574E exm711607 8 99030342 [A/G] NM_030583,NM_002380 MATN2,MATN2 EXON Missense_R606Q,Missense_R606Q exm711608 8 99033441 [A/G] NM_030583,NM_002380 MATN2,MATN2 EXON Missense_V610I,Missense_V610I exm711610 8 99033546 [T/C] NM_030583,NM_002380 MATN2,MATN2 EXON Missense_R645W,Missense_R645W exm2178380 8 99039758 [G/C] NM_030583,NM_002380 MATN2,MATN2 EXON Missense_T686R,Missense_T686R exm711636 8 99044528 [T/C] NM_030583,NM_002380 MATN2,MATN2 EXON Missense_T855M,Missense_T855M exm711638 8 99045321 [T/C] NM_030583,NM_002380 MATN2,MATN2 EXON Silent,Missense_F878S exm711641 8 99045344 [T/C] NM_030583,NM_002380 MATN2,MATN2 EXON Missense_F867L,Missense_F886L exm711644 8 99045366 [A/G] NM_030583,NM_002380 MATN2,MATN2 EXON Missense_R874Q,Missense_R893Q exm711647 8 99045866 [A/G] NM_030583,NM_002380 MATN2,MATN2 EXON Missense_V913I,Missense_V932I exm711648 8 99045883 [C/G] NM_030583,NM_002380 MATN2,MATN2 EXON Missense_Q918H,Missense_Q937H exm711650 8 99047894 [T/C] NM_030583,NM_002380 MATN2,MATN2 EXON Missense_M923T,Missense_M942T exm711681 8 99076904 [T/G] NM_001170806,NM_173549 C8orf47,C8orf47 EXON Missense_C3G,Missense_C3G exm-rs13278732 8 99088581 [T/C] NM_001170806,NM_173549 C8orf47,C8orf47 Silent,Silent exm711690 8 99101421 [A/G] NM_001170806,NM_173549 C8orf47,C8orf47 EXON Silent,Missense_R59H exm711691 8 99101429 [T/A] NM_001170806,NM_173549 C8orf47,C8orf47 EXON Silent,Missense_L62I exm2178407 8 99101484 [A/G] NM_001170806,NM_173549 C8orf47,C8orf47 EXON Silent,Missense_Q80R exm711693 8 99101495 [G/C] NM_001170806,NM_173549 C8orf47,C8orf47 EXON Silent,Missense_L84V exm711698 8 99101544 [T/C] NM_001170806,NM_173549 C8orf47,C8orf47 EXON Silent,Missense_S100F exm711699 8 99101554 [C/G] NM_001170806,NM_173549 C8orf47,C8orf47 EXON Silent,Missense_K103N exm711704 8 99101666 [A/G] NM_001170806,NM_173549 C8orf47,C8orf47 EXON Silent,Missense_E141K exm711707 8 99101741 [A/G] NM_001170806,NM_173549 C8orf47,C8orf47 EXON Silent,Missense_E166K exm2178408 8 99101813 [A/G] NM_001170806,NM_173549 C8orf47,C8orf47 EXON Silent,Missense_T190A exm711717 8 99101892 [T/C] NM_001170806,NM_173549 C8orf47,C8orf47 EXON Silent,Missense_P216L exm711719 8 99101923 [A/C] NM_001170806,NM_173549 C8orf47,C8orf47 EXON Silent,Missense_E226D exm711721 8 99101973 [A/G] NM_001170806,NM_173549 C8orf47,C8orf47 EXON Silent,Missense_Q243R exm711722 8 99101976 [A/C] NM_001170806,NM_173549 C8orf47,C8orf47 EXON Silent,Missense_Q244P exm711724 8 99101981 [T/C] NM_001170806,NM_173549 C8orf47,C8orf47 EXON Silent,Nonsense_Q246X exm711729 8 99102077 [A/G] NM_001170806,NM_173549 C8orf47,C8orf47 EXON Silent,Missense_E278K exm711730 8 99102105 [A/G] NM_001170806,NM_173549 C8orf47,C8orf47 EXON Silent,Missense_H287R exm711749 8 99118501 [A/G] NM_005836 HRSP12 EXON Synonymous_N75N exm711760 8 99135575 [A/G] NM_001145860,NM_001145861,NM_015029 POP1,POP1,POP1 EXON Missense_A4T,Missense_A4T,Missense_A4T exm711764 8 99135639 [A/G] NM_001145860,NM_001145861,NM_015029 POP1,POP1,POP1 EXON Missense_G25D,Missense_G25D,Missense_G25D exm711769 8 99139874 [C/G] NM_001145860,NM_001145861,NM_015029 POP1,POP1,POP1 EXON Missense_S65C,Missense_S65C,Missense_S65C exm711773 8 99139936 [C/G] NM_001145860,NM_001145861,NM_015029 POP1,POP1,POP1 EXON Missense_G86R,Missense_G86R,Missense_G86R exm711778 8 99140662 [T/C] NM_001145860,NM_001145861,NM_015029 POP1,POP1,POP1 EXON Missense_S127L,Missense_S127L,Missense_S127L exm711783 8 99142206 [A/G] NM_001145860,NM_001145861,NM_015029 POP1,POP1,POP1 EXON Missense_A163T,Missense_A163T,Missense_A163T exm711784 8 99142207 [T/C] NM_001145860,NM_001145861,NM_015029 POP1,POP1,POP1 EXON Missense_A163V,Missense_A163V,Missense_A163V exm711786 8 99142275 [A/G] NM_001145860,NM_001145861,NM_015029 POP1,POP1,POP1 EXON Missense_M186V,Missense_M186V,Missense_M186V exm711787 8 99142285 [T/C] NM_001145860,NM_001145861,NM_015029 POP1,POP1,POP1 EXON Missense_T189M,Missense_T189M,Missense_T189M exm711797 8 99142440 [T/C] NM_001145860,NM_001145861,NM_015029 POP1,POP1,POP1 EXON Missense_R241W,Missense_R241W,Missense_R241W exm711798 8 99142441 [A/G] NM_001145860,NM_001145861,NM_015029 POP1,POP1,POP1 EXON Missense_R241Q,Missense_R241Q,Missense_R241Q exm2178439 8 99146738 [T/C] NM_001145860,NM_001145861,NM_015029 POP1,POP1,POP1 EXON Missense_R288C,Missense_R288C,Missense_R288C exm711804 8 99146739 [A/G] NM_001145860,NM_001145861,NM_015029 POP1,POP1,POP1 EXON Missense_R288H,Missense_R288H,Missense_R288H exm711807 8 99146811 [A/G] NM_001145860,NM_001145861,NM_015029 POP1,POP1,POP1 EXON Nonsense_W312X,Nonsense_W312X,Nonsense_W312X exm711808 8 99146829 [T/C] NM_001145860,NM_001145861,NM_015029 POP1,POP1,POP1 EXON Missense_P318L,Missense_P318L,Missense_P318L exm711813 8 99148791 [A/G] NM_001145860,NM_001145861,NM_015029 POP1,POP1,POP1 EXON Missense_T365A,Missense_T365A,Missense_T365A exm711825 8 99152309 [A/G] NM_001145860,NM_001145861,NM_015029 POP1,POP1,POP1 EXON Missense_G456R,Missense_G456R,Missense_G456R exm711826 8 99152322 [A/C] NM_001145860,NM_001145861,NM_015029 POP1,POP1,POP1 EXON Missense_E460A,Missense_E460A,Missense_E460A exm711831 8 99153088 [A/C] NM_001145860,NM_001145861,NM_015029 POP1,POP1,POP1 EXON Missense_K522N,Missense_K522N,Missense_K522N exm711839 8 99158874 [T/C] NM_001145860,NM_001145861,NM_015029 POP1,POP1,POP1 EXON Missense_I558T,Missense_I558T,Missense_I558T exm2178451 8 99158904 [T/C] NM_001145860,NM_001145861,NM_015029 POP1,POP1,POP1 EXON Missense_S568L,Missense_S568L,Missense_S568L exm711843 8 99161053 [A/G] NM_001145860,NM_001145861,NM_015029 POP1,POP1,POP1 EXON Missense_R574Q,Missense_R574Q,Missense_R574Q exm711859 8 99168279 [T/C] NM_001145860,NM_001145861,NM_015029 POP1,POP1,POP1 EXON Missense_R687C,Missense_R687C,Missense_R687C exm711869 8 99168559 [T/C] NM_001145860,NM_001145861,NM_015029 POP1,POP1,POP1 EXON Missense_S780L,Missense_S780L,Missense_S780L exm711871 8 99168594 [A/G] NM_001145860,NM_001145861,NM_015029 POP1,POP1,POP1 EXON Missense_S792G,Missense_S792G,Missense_S792G exm711874 8 99169852 [A/G] NM_001145860,NM_001145861,NM_015029 POP1,POP1,POP1 EXON Missense_K810E,Missense_K810E,Missense_K810E exm711890 8 99170131 [G/C] NM_001145860,NM_001145861,NM_015029 POP1,POP1,POP1 EXON Missense_P903A,Missense_P903A,Missense_P903A exm2247264 8 99170216 [T/C] NM_001145860,NM_001145861,NM_015029 POP1,POP1,POP1 EXON Missense_P931L,Missense_P931L,Missense_P931L exm711908 8 99170491 [A/G] NM_001145860,NM_001145861,NM_015029 POP1,POP1,POP1 EXON Missense_E1023K,Missense_E1023K,Missense_E1023K exm2259036 8 99198040 [T/C] exm711910 8 99205289 [C/G] NM_024759 NIPAL2 EXON Missense_R366T exm711913 8 99205612 [T/C] NM_024759 NIPAL2 Silent exm711914 8 99205614 [T/G] NM_024759 NIPAL2 EXON Synonymous_R356R exm711922 8 99207000 [T/G] NM_024759 NIPAL2 EXON Missense_K332T exm2259037 8 99208190 [A/C] NM_024759 NIPAL2 EXON Synonymous_T308T exm711927 8 99208190 [A/C] NM_024759 NIPAL2 EXON Synonymous_T308T exm711928 8 99208191 [A/G] NM_024759 NIPAL2 EXON Missense_T308I exm711930 8 99215392 [A/G] NM_024759 NIPAL2 EXON Missense_T275M exm711934 8 99217391 [T/C] NM_024759 NIPAL2 EXON Missense_I247V exm711937 8 99224642 [T/C] NM_024759 NIPAL2 EXON Missense_A216T exm711947 8 99248383 [T/C] NM_024759 NIPAL2 EXON Missense_G146S exm711951 8 99264792 [T/C] NM_024759 NIPAL2 EXON Missense_G92D exm2270899 8 99364717 [T/C] exm2271001 8 99399509 [T/C] exm711983 8 99440818 [T/C] NM_020697 KCNS2 EXON Missense_M204T exm711988 8 99441012 [A/G] NM_020697 KCNS2 EXON Missense_V269I exm711990 8 99441057 [A/G] NM_020697 KCNS2 EXON Missense_T284A exm712003 8 99441459 [T/C] NM_020697 KCNS2 EXON Missense_R418W exm712013 8 99539000 [T/C] NM_001256312,NM_006281,NM_001256313 STK3,STK3,STK3 EXON Nonsense_W457X,Nonsense_W429X,Nonsense_W318X exm712015 8 99539029 [T/C] NM_001256312,NM_006281,NM_001256313 STK3,STK3,STK3 EXON Missense_M448V,Missense_M420V,Missense_M309V exm712021 8 99539131 [A/G] NM_001256312,NM_006281,NM_001256313 STK3,STK3,STK3 EXON Missense_P414S,Missense_P386S,Missense_P275S exm2178502 8 99560325 [T/C] NM_001256312,NM_006281,NM_001256313 STK3,STK3,STK3 EXON Missense_R366Q,Missense_R338Q,Missense_R227Q exm712053 8 99779588 [T/C] NM_001256312,NM_006281,NM_001256313 STK3,STK3,STK3 EXON Missense_S68N,Missense_S40N,Missense_S40N exm712071 8 99961655 [T/C] NM_053001,NM_001142462 OSR2,OSR2 EXON Missense_P159S,Missense_P159S exm2266660 8 100092857 [A/G] NM_152564,NR_047582,NM_015243,NM_181661,NM_017890 VPS13B,VPS13B,VPS13B,VPS13B,VPS13B Silent,Silent,Silent,Silent,Silent exm712085 8 100108606 [A/G] NM_152564,NR_047582,NM_015243,NM_181661,NM_017890 VPS13B,VPS13B,VPS13B,VPS13B,VPS13B EXON Missense_I120V,Silent,Missense_I120V,Missense_I120V,Missense_I120V exm712086 8 100108613 [T/C] NM_152564,NR_047582,NM_015243,NM_181661,NM_017890 VPS13B,VPS13B,VPS13B,VPS13B,VPS13B EXON Missense_P122L,Silent,Missense_P122L,Missense_P122L,Missense_P122L exm712096 8 100115328 [A/G] NM_152564,NR_047582,NM_015243,NM_181661,NM_017890 VPS13B,VPS13B,VPS13B,VPS13B,VPS13B EXON Missense_R187H,Silent,Missense_R187H,Missense_R187H,Missense_R187H exm712103 8 100123356 [A/G] NM_152564,NR_047582,NM_015243,NM_181661,NM_017890 VPS13B,VPS13B,VPS13B,VPS13B,VPS13B EXON Missense_N204S,Silent,Missense_N204S,Missense_N204S,Missense_N204S exm712109 8 100128062 [C/G] NM_152564,NR_047582,NM_015243,NM_181661,NM_017890 VPS13B,VPS13B,VPS13B,VPS13B,VPS13B EXON Missense_D299E,Silent,Missense_D299E,Missense_D299E,Missense_D299E exm712110 8 100128086 [A/G] NM_152564,NR_047582,NM_015243,NM_181661,NM_017890 VPS13B,VPS13B,VPS13B,VPS13B,VPS13B EXON Missense_M307I,Silent,Missense_M307I,Missense_M307I,Missense_M307I exm712112 8 100133450 [A/G] NM_152564,NR_047582,NM_015243,NM_181661,NM_017890 VPS13B,VPS13B,VPS13B,VPS13B,VPS13B EXON Missense_H328R,Silent,Missense_H328R,Missense_H328R,Missense_H328R exm712122 8 100133706 [T/G] NM_152564,NR_047582,NM_015243,NM_181661,NM_017890 VPS13B,VPS13B,VPS13B,VPS13B,VPS13B EXON Silent,Silent,Silent,Nonsense_Y413X,Silent exm712124 8 100146901 [T/G] NM_152564,NM_015243,NM_017890 VPS13B,VPS13B,VPS13B EXON Missense_Q416H,Missense_Q416H,Missense_Q416H exm712125 8 100146942 [G/C] NM_152564,NM_015243,NM_017890 VPS13B,VPS13B,VPS13B EXON Missense_G430A,Missense_G430A,Missense_G430A exm712130 8 100147861 [T/C] NM_152564,NM_015243,NM_017890 VPS13B,VPS13B,VPS13B EXON Missense_T488M,Missense_T488M,Missense_T488M exm712134 8 100147926 [T/C] NM_152564,NM_015243,NM_017890 VPS13B,VPS13B,VPS13B EXON Missense_R510C,Missense_R510C,Missense_R510C exm712138 8 100147957 [A/G] NM_152564,NM_015243,NM_017890 VPS13B,VPS13B,VPS13B EXON Missense_H520R,Missense_H520R,Missense_H520R exm712141 8 100148919 [A/G] NM_152564,NM_015243,NM_017890 VPS13B,VPS13B,VPS13B EXON Missense_M530I,Missense_M530I,Missense_M530I exm712144 8 100148968 [A/G] NM_152564,NM_015243,NM_017890 VPS13B,VPS13B,VPS13B EXON Missense_T547A,Missense_T547A,Missense_T547A exm712147 8 100155250 [A/G] NM_152564,NM_015243,NM_017890 VPS13B,VPS13B,VPS13B EXON Missense_G567E,Missense_G567E,Missense_G567E exm712153 8 100155318 [A/G] NM_152564,NM_015243,NM_017890 VPS13B,VPS13B,VPS13B EXON Missense_A590T,Missense_A590T,Missense_A590T exm2246236 8 100155319 [T/C] NM_152564,NM_015243,NM_017890 VPS13B,VPS13B,VPS13B EXON Missense_A590V,Missense_A590V,Missense_A590V exm2159248 8 100155375 [T/C] NM_152564,NM_015243,NM_017890 VPS13B,VPS13B,VPS13B EXON Missense_Y609H,Missense_Y609H,Missense_Y609H exm712158 8 100155382 [A/G] NM_152564,NM_015243,NM_017890 VPS13B,VPS13B,VPS13B EXON Missense_R611K,Missense_R611K,Missense_R611K exm712161 8 100160113 [A/G] NM_152564,NM_015243,NM_017890 VPS13B,VPS13B,VPS13B EXON Missense_A630T,Missense_A630T,Missense_A630T exm712162 8 100160206 [A/G] NM_152564,NM_015243,NM_017890 VPS13B,VPS13B,VPS13B EXON Missense_D661N,Missense_D661N,Missense_D661N exm712172 8 100182333 [G/C] NM_152564,NM_015243,NM_017890 VPS13B,VPS13B,VPS13B EXON Missense_V759L,Missense_V759L,Missense_V759L exm712173 8 100182340 [A/C] NM_152564,NM_015243,NM_017890 VPS13B,VPS13B,VPS13B EXON Missense_P761H,Missense_P761H,Missense_P761H exm712188 8 100205147 [C/G] NM_152564,NM_015243,NM_017890 VPS13B,VPS13B,VPS13B EXON Missense_L793V,Missense_L793V,Missense_L793V exm712197 8 100205240 [T/G] NM_152564,NM_015243,NM_017890 VPS13B,VPS13B,VPS13B EXON Missense_S824A,Missense_S824A,Missense_S824A exm712198 8 100205241 [T/C] NM_152564,NM_015243,NM_017890 VPS13B,VPS13B,VPS13B EXON Missense_S824F,Missense_S824F,Missense_S824F exm712199 8 100205243 [A/G] NM_152564,NM_015243,NM_017890 VPS13B,VPS13B,VPS13B EXON Missense_A825T,Missense_A825T,Missense_A825T exm712200 8 100205255 [A/G] NM_152564,NM_015243,NM_017890 VPS13B,VPS13B,VPS13B EXON Missense_A829T,Missense_A829T,Missense_A829T exm712201 8 100205279 [A/T] NM_152564,NM_015243,NM_017890 VPS13B,VPS13B,VPS13B EXON Missense_S837C,Missense_S837C,Missense_S837C exm712218 8 100286506 [A/G] NM_152564,NM_017890 VPS13B,VPS13B EXON Missense_V866I,Missense_V866I exm712223 8 100286553 [A/T] NM_152564,NM_017890 VPS13B,VPS13B EXON Missense_K881N,Missense_K881N exm712227 8 100287362 [A/G] NM_152564,NM_017890 VPS13B,VPS13B EXON Missense_K902E,Missense_K902E exm712231 8 100287484 [T/G] NM_152564,NM_017890 VPS13B,VPS13B Silent,Silent exm712243 8 100403867 [G/C] NM_152564,NM_017890 VPS13B,VPS13B EXON Missense_A1006G,Missense_A1006G exm712254 8 100443798 [T/C] NM_152564,NM_017890 VPS13B,VPS13B EXON Missense_M1039T,Missense_M1039T exm712257 8 100443885 [T/C] NM_152564,NM_017890 VPS13B,VPS13B EXON Missense_T1068I,Missense_T1068I exm2159288 8 100454797 [T/G] NM_152564,NM_017890 VPS13B,VPS13B EXON Missense_G1127W,Missense_G1127W exm712265 8 100454804 [A/G] NM_152564,NM_017890 VPS13B,VPS13B EXON Missense_K1129R,Missense_K1129R exm2246237 8 100454824 [A/G] NM_152564,NM_017890 VPS13B,VPS13B EXON Missense_E1136K,Missense_E1136K exm712266 8 100454831 [T/C] NM_152564,NM_017890 VPS13B,VPS13B EXON Missense_P1138L,Missense_P1138L exm712269 8 100454854 [G/C] NM_152564,NM_017890 VPS13B,VPS13B EXON Missense_L1146V,Missense_L1146V exm712280 8 100479846 [A/C] NM_152564,NM_017890 VPS13B,VPS13B EXON Missense_K1217T,Missense_K1217T exm712286 8 100493911 [A/G] NM_152564,NM_017890 VPS13B,VPS13B EXON Missense_T1251A,Missense_T1251A exm712292 8 100494026 [C/G] NM_152564,NM_017890 VPS13B,VPS13B EXON Missense_T1289S,Missense_T1289S exm712303 8 100520086 [T/C] NM_152564,NM_017890 VPS13B,VPS13B EXON Silent,Nonsense_R1416X exm712304 8 100520087 [A/G] NM_152564,NM_017890 VPS13B,VPS13B EXON Silent,Missense_R1416Q exm712340 8 100568761 [A/G] NM_152564,NM_017890 VPS13B,VPS13B EXON Missense_N1610S,Missense_N1635S exm712349 8 100587891 [A/G] NM_152564,NM_017890 VPS13B,VPS13B EXON Missense_R1652Q,Missense_R1677Q exm712370 8 100654319 [T/C] NM_152564,NM_017890 VPS13B,VPS13B EXON Missense_S1834L,Missense_S1859L exm712373 8 100654346 [T/A] NM_152564,NM_017890 VPS13B,VPS13B EXON Missense_E1843V,Missense_E1868V exm712374 8 100654424 [T/C] NM_152564,NM_017890 VPS13B,VPS13B EXON Missense_T1869M,Missense_T1894M exm712385 8 100654708 [T/C] NM_152564,NM_017890 VPS13B,VPS13B EXON Missense_S1964P,Missense_S1989P exm712386 8 100654723 [A/G] NM_152564,NM_017890 VPS13B,VPS13B EXON Missense_I1969V,Missense_I1994V exm712391 8 100711754 [A/G] NM_152564,NM_017890 VPS13B,VPS13B EXON Synonymous_A2016A,Synonymous_A2041A exm712402 8 100712122 [A/G] NM_152564,NM_017890 VPS13B,VPS13B EXON Missense_N2139S,Missense_N2164S exm712414 8 100732642 [T/G] NM_152564,NM_017890 VPS13B,VPS13B EXON Nonsense_E2243X,Nonsense_E2268X exm712421 8 100733202 [A/G] NM_152564,NM_017890 VPS13B,VPS13B EXON Missense_R2326Q,Missense_R2351Q exm712429 8 100789046 [A/G] NM_152564,NM_017890 VPS13B,VPS13B EXON Missense_V2431M,Missense_V2456M exm712445 8 100791156 [T/C] NM_152564,NM_017890 VPS13B,VPS13B EXON Missense_V2559A,Missense_V2584A exm712446 8 100791158 [A/G] NM_152564,NM_017890 VPS13B,VPS13B EXON Missense_E2560K,Missense_E2585K exm712451 8 100791188 [A/G] NM_152564,NM_017890 VPS13B,VPS13B EXON Missense_D2570N,Missense_D2595N exm712452 8 100791192 [T/C] NM_152564,NM_017890 VPS13B,VPS13B EXON Missense_S2571F,Missense_S2596F exm2246240 8 100791259 [A/G] NM_152564,NM_017890 VPS13B,VPS13B EXON Synonymous_Q2593Q,Synonymous_Q2618Q exm2159343 8 100796564 [A/G] NM_152564,NM_017890 VPS13B,VPS13B EXON Missense_E2601K,Missense_E2626K exm2270900 8 100825521 [T/G] NM_152564,NM_017890 VPS13B,VPS13B Silent,Silent exm712475 8 100829963 [A/G] NM_152564,NM_017890 VPS13B,VPS13B EXON Missense_G2765R,Missense_G2790R exm712482 8 100831065 [T/C] NM_152564,NM_017890 VPS13B,VPS13B EXON Missense_P2857L,Missense_P2882L exm712488 8 100831768 [T/C] NM_152564,NM_017890 VPS13B,VPS13B EXON Missense_S2917L,Missense_S2942L exm712492 8 100832259 [A/G] NM_152564,NM_017890 VPS13B,VPS13B EXON Missense_N2968S,Missense_N2993S exm712497 8 100833621 [T/G] NM_152564,NM_017890 VPS13B,VPS13B EXON Missense_D3032Y,Missense_D3057Y exm712506 8 100844598 [T/A] NM_152564,NM_017890 VPS13B,VPS13B EXON Missense_Y3111F,Missense_Y3136F exm712507 8 100844603 [T/C] NM_152564,NM_017890 VPS13B,VPS13B EXON Missense_R3113C,Missense_R3138C exm712508 8 100844604 [A/G] NM_152564,NM_017890 VPS13B,VPS13B EXON Missense_R3113H,Missense_R3138H exm712509 8 100844615 [A/G] NM_152564,NM_017890 VPS13B,VPS13B EXON Missense_S3117G,Missense_S3142G exm712514 8 100844796 [T/C] NM_152564,NM_017890 VPS13B,VPS13B EXON Missense_L3177P,Missense_L3202P exm712518 8 100844858 [T/C] NM_152564,NM_017890 VPS13B,VPS13B EXON Missense_R3198W,Missense_R3223W exm2258552 8 100847900 [T/G] NM_152564,NM_017890 VPS13B,VPS13B EXON Synonymous_V3292V,Synonymous_V3317V exm712531 8 100847927 [A/G] NM_152564,NM_017890 VPS13B,VPS13B EXON Synonymous_E3301E,Synonymous_E3326E exm2258553 8 100847927 [A/G] NM_152564,NM_017890 VPS13B,VPS13B EXON Synonymous_E3301E,Synonymous_E3326E exm712532 8 100847941 [T/C] NM_152564,NM_017890 VPS13B,VPS13B EXON Missense_I3306T,Missense_I3331T exm712534 8 100861004 [A/G] NM_152564,NM_017890 VPS13B,VPS13B EXON Missense_V3315I,Missense_V3340I exm712538 8 100861110 [T/C] NM_152564,NM_017890 VPS13B,VPS13B EXON Missense_T3350I,Missense_T3375I exm712539 8 100861113 [T/A] NM_152564,NM_017890 VPS13B,VPS13B EXON Missense_N3351I,Missense_N3376I exm712553 8 100865836 [A/G] NM_152564,NM_017890 VPS13B,VPS13B EXON Missense_G3407R,Missense_G3432R exm712554 8 100865852 [T/C] NM_152564,NM_017890 VPS13B,VPS13B EXON Missense_A3412V,Missense_A3437V exm2159372 8 100865854 [T/G] NM_152564,NM_017890 VPS13B,VPS13B EXON Missense_A3413S,Missense_A3438S exm712557 8 100865858 [T/C] NM_152564,NM_017890 VPS13B,VPS13B EXON Missense_L3414S,Missense_L3439S exm2159374 8 100865875 [A/G] NM_152564,NM_017890 VPS13B,VPS13B EXON Missense_V3420M,Missense_V3445M exm712559 8 100865927 [T/C] NM_152564,NM_017890 VPS13B,VPS13B EXON Missense_S3437F,Missense_S3462F exm712560 8 100865930 [A/G] NM_152564,NM_017890 VPS13B,VPS13B EXON Missense_N3438S,Missense_N3463S exm712573 8 100866229 [A/G] NM_152564,NM_017890 VPS13B,VPS13B EXON Missense_G3538R,Missense_G3563R exm712582 8 100866361 [A/G] NM_152564,NM_017890 VPS13B,VPS13B EXON Missense_I3582V,Missense_I3607V exm712595 8 100871657 [A/G] NM_152564,NM_017890 VPS13B,VPS13B EXON Missense_V3665M,Missense_V3690M exm712597 8 100874030 [A/G] NM_152564,NM_017890 VPS13B,VPS13B EXON Missense_A3691T,Missense_A3716T exm712605 8 100874117 [A/G] NM_152564,NM_017890 VPS13B,VPS13B EXON Missense_E3720K,Missense_E3745K exm712615 8 100883094 [A/G] NM_152564,NM_017890 VPS13B,VPS13B EXON Missense_N3825S,Missense_N3850S exm712629 8 100883836 [A/G] NM_152564,NM_017890 VPS13B,VPS13B EXON Missense_V3886I,Missense_V3911I exm712634 8 100887659 [A/G] NM_152564,NM_017890 VPS13B,VPS13B EXON Missense_R3920Q,Missense_R3945Q exm712636 8 100887752 [T/C] NM_152564,NM_017890 VPS13B,VPS13B EXON Missense_I3951T,Missense_I3976T exm2159399 8 100887784 [G/C] NM_152564,NM_017890 VPS13B,VPS13B EXON Missense_P3962A,Missense_P3987A exm2159400 8 100887797 [A/T] NM_152564,NM_017890 VPS13B,VPS13B EXON Missense_K3966I,Missense_K3991I exm712649 8 100904188 [T/C] NM_004374 COX6C EXON Missense_N21S exm712653 8 100904243 [A/G] NM_004374 COX6C EXON Missense_P3S exm2262389 8 100926037 [T/C] exm712656 8 100974669 [A/G] NM_015668 RGS22 EXON Missense_X1265R exm712666 8 100977655 [T/C] NM_015668 RGS22 EXON Missense_G1175R exm712670 8 100990195 [T/G] NM_015668 RGS22 EXON Missense_N1157H exm712677 8 100994170 [T/C] NM_015668 RGS22 EXON Missense_A1119T exm712678 8 100994172 [T/C] NM_015668 RGS22 EXON Missense_E1118G exm2277355 8 100994203 [G/C] NM_015668 RGS22 EXON Missense_R1108G exm712683 8 100994321 [A/C] NM_015668 RGS22 EXON Missense_D1068E exm712692 8 101008701 [T/C] NM_015668 RGS22 EXON Missense_G1003R exm712693 8 101011489 [T/C] NM_015668 RGS22 Silent exm712697 8 101011594 [A/G] NM_015668 RGS22 EXON Missense_P949S exm712699 8 101011612 [A/G] NM_015668 RGS22 EXON Missense_H943Y exm712701 8 101014457 [A/C] NM_015668 RGS22 EXON Missense_S921R exm712707 8 101014581 [A/G] NM_015668 RGS22 EXON Missense_M880T exm712713 8 101016251 [T/C] NM_015668 RGS22 EXON Missense_V844I exm712716 8 101016286 [A/G] NM_015668 RGS22 EXON Missense_S832F exm712717 8 101016292 [A/G] NM_015668 RGS22 EXON Missense_S830L exm2159430 8 101018250 [G/C] NM_015668 RGS22 EXON Missense_A817P exm712724 8 101020676 [T/C] NM_015668 RGS22 EXON Missense_E763G exm712726 8 101020754 [A/G] NM_015668 RGS22 EXON Missense_I737T exm712728 8 101020779 [T/C] NM_015668 RGS22 EXON Missense_V729I exm712733 8 101051163 [A/G] NM_015668 RGS22 EXON Missense_A721V exm712735 8 101051173 [A/G] NM_015668 RGS22 EXON Missense_C718R exm712740 8 101054034 [C/G] NM_015668 RGS22 EXON Missense_P645R exm712744 8 101054113 [T/C] NM_015668 RGS22 EXON Missense_I619V exm712745 8 101054140 [T/C] NM_015668 RGS22 EXON Missense_K610E exm712751 8 101059805 [G/C] NM_015668 RGS22 EXON Nonsense_S570X exm712754 8 101065056 [T/A] NM_015668 RGS22 EXON Missense_C555S exm712763 8 101075708 [A/C] NM_015668 RGS22 EXON Missense_Y430D exm2246248 8 101075806 [A/C] NM_015668 RGS22 EXON Missense_R397M exm712777 8 101076174 [T/G] NM_015668 RGS22 EXON Missense_E274D exm712778 8 101076210 [T/G] NM_015668 RGS22 EXON Missense_N262K exm712781 8 101078441 [A/C] NM_015668 RGS22 EXON Missense_C226W exm712783 8 101083613 [T/C] NM_015668 RGS22 EXON Missense_Y193C exm712795 8 101092400 [T/C] NM_015668 RGS22 EXON Missense_D101N exm2159466 8 101117610 [T/C] NM_015668 RGS22 EXON Missense_E16K exm712811 8 101146049 [T/C] NM_001029860,NR_036491 FBXO43,FBXO43 EXON Missense_R703Q,Silent exm712815 8 101146207 [G/C] NM_001029860,NR_036491 FBXO43,FBXO43 EXON Missense_Q650H,Silent exm712825 8 101146558 [T/C] NM_001029860,NR_036491 FBXO43,FBXO43 EXON Missense_R570Q,Silent exm712827 8 101149809 [A/C] NM_001029860,NR_036491 FBXO43,FBXO43 EXON Missense_L553R,Silent exm712834 8 101152913 [C/G] NM_001029860,NR_036491 FBXO43,FBXO43 EXON Missense_C523W,Silent exm2258555 8 101153024 [A/G] NM_001029860,NR_036491 FBXO43,FBXO43 EXON Synonymous_I486I,Silent exm712843 8 101153272 [A/G] NM_001029860,NR_036491 FBXO43,FBXO43 EXON Missense_H404Y,Silent exm712855 8 101153511 [A/G] NM_001029860,NR_036491 FBXO43,FBXO43 EXON Missense_V324A,Silent exm712875 8 101154066 [A/G] NM_001029860,NR_036491 FBXO43,FBXO43 EXON Missense_P139L,Silent exm712878 8 101154177 [A/G] NM_001029860,NR_036491 FBXO43,FBXO43 EXON Missense_T102I,Silent exm712879 8 101154248 [T/G] NM_001029860,NR_036491 FBXO43,FBXO43 EXON Nonsense_Y78X,Silent exm2258556 8 101157227 [A/G] NM_001029860,NR_036491 FBXO43,FBXO43 Silent,Silent exm712904 8 101178106 [A/G] NM_172218,NM_003114 SPAG1,SPAG1 EXON Missense_A69T,Missense_A69T exm712911 8 101190141 [A/G] NM_172218,NM_003114 SPAG1,SPAG1 EXON Missense_G133D,Missense_G133D exm712912 8 101190156 [T/C] NM_172218,NM_003114 SPAG1,SPAG1 EXON Missense_L138P,Missense_L138P exm712921 8 101196191 [A/G] NM_172218,NM_003114 SPAG1,SPAG1 EXON Missense_V166M,Missense_V166M exm712927 8 101196856 [G/C] NM_172218,NM_003114 SPAG1,SPAG1 EXON Missense_G199A,Missense_G199A exm712937 8 101203662 [T/C] NM_172218,NM_003114 SPAG1,SPAG1 EXON Missense_R293W,Missense_R293W exm712941 8 101206391 [A/G] NM_172218,NM_003114 SPAG1,SPAG1 EXON Missense_E331K,Missense_E331K exm712962 8 101232557 [T/C] NM_172218,NM_003114 SPAG1,SPAG1 EXON Missense_M529T,Missense_M529T exm2159517 8 101237471 [T/C] NM_172218,NM_003114 SPAG1,SPAG1 EXON Missense_P587S,Missense_P587S exm712981 8 101243470 [A/G] NM_172218,NM_003114 SPAG1,SPAG1 EXON Missense_E648K,Missense_E648K exm712989 8 101245664 [T/C] NM_172218,NM_003114 SPAG1,SPAG1 EXON Nonsense_Q672X,Nonsense_Q672X exm712999 8 101251617 [T/A] NM_172218,NM_003114 SPAG1,SPAG1 EXON Missense_K755N,Missense_K755N exm713000 8 101252680 [T/C] NM_172218,NM_003114 SPAG1,SPAG1 EXON Missense_M777T,Missense_M777T exm713001 8 101252681 [A/G] NM_172218,NM_003114 SPAG1,SPAG1 EXON Missense_M777I,Missense_M777I exm713008 8 101252829 [T/C] NM_172218,NM_003114 SPAG1,SPAG1 EXON Missense_H827Y,Missense_H827Y exm713023 8 101270951 [T/C] NM_183419,NM_015435 RNF19A,RNF19A EXON Missense_A784T,Missense_A784T exm713029 8 101271241 [T/C] NM_183419,NM_015435 RNF19A,RNF19A EXON Missense_N687S,Missense_N687S exm713040 8 101273776 [A/T] NM_183419,NM_015435 RNF19A,RNF19A EXON Missense_F559Y,Missense_F559Y exm2258557 8 101276359 [A/G] NM_183419,NM_015435 RNF19A,RNF19A EXON Synonymous_S457S,Synonymous_S457S exm713052 8 101277003 [T/C] NM_183419,NM_015435 RNF19A,RNF19A EXON Missense_R401H,Missense_R401H exm713061 8 101281057 [T/C] NM_183419,NM_015435 RNF19A,RNF19A EXON Missense_I383V,Missense_I383V exm713086 8 101299889 [T/C] NM_183419,NM_015435 RNF19A,RNF19A EXON Missense_V172I,Missense_V172I exm713091 8 101300119 [T/G] NM_183419,NM_015435 RNF19A,RNF19A EXON Missense_E95A,Missense_E95A exm713095 8 101300222 [T/G] NM_183419,NM_015435 RNF19A,RNF19A EXON Missense_K61Q,Missense_K61Q exm713099 8 101300366 [T/G] NM_183419,NM_015435 RNF19A,RNF19A EXON Missense_N13H,Missense_N13H exm-rs1371867 8 101330209 [A/C] exm713109 8 101534986 [A/G] NM_001270379,NM_198401,NM_001270378,NM_001270377 ANKRD46,ANKRD46,ANKRD46,ANKRD46 EXON Missense_H162Y,Missense_H162Y,Missense_H162Y,Missense_H162Y exm713125 8 101586125 [T/C] NM_152628 SNX31 EXON Missense_V431I exm713139 8 101601143 [T/C] NM_152628 SNX31 EXON Missense_Q348R exm-IND8-101678057 8 101608882 [D/I] NM_152628 SNX31 EXON exm713146 8 101608919 [T/C] NM_152628 SNX31 EXON Missense_Q309R exm713150 8 101609014 [A/C] NM_152628 SNX31 EXON Missense_C277W exm713151 8 101609019 [A/G] NM_152628 SNX31 EXON Missense_P276S exm713155 8 101612659 [A/T] NM_152628 SNX31 EXON Missense_D231V exm2258559 8 101620743 [T/C] NM_152628 SNX31 EXON Synonymous_A220A exm713161 8 101620783 [T/G] NM_152628 SNX31 EXON Missense_A207D exm713162 8 101624235 [A/G] NM_152628 SNX31 EXON Nonsense_R202X exm713165 8 101625241 [T/C] NM_152628 SNX31 EXON Missense_K169E exm713168 8 101625250 [A/G] NM_152628 SNX31 EXON Missense_R166W exm713171 8 101625285 [T/C] NM_152628 SNX31 EXON Missense_R154Q exm713174 8 101629847 [T/C] NM_152628 SNX31 Silent exm713176 8 101629875 [T/C] NM_152628 SNX31 EXON Synonymous_T135T exm2258560 8 101629875 [T/C] NM_152628 SNX31 EXON Synonymous_T135T exm713180 8 101642553 [A/C] NM_152628 SNX31 Silent exm713181 8 101642562 [A/G] NM_152628 SNX31 EXON Missense_A105V exm713190 8 101648164 [C/G] NM_152628 SNX31 EXON Missense_D73H exm713193 8 101648233 [A/G] NM_152628 SNX31 EXON Missense_R50W exm2274320 8 101661517 [A/G] NM_152628 SNX31 EXON Synonymous_H42H exm713212 8 101716533 [A/G] NM_002568 PABPC1 EXON Missense_T635I exm713217 8 101717182 [A/G] NM_002568 PABPC1 EXON Missense_L597P exm713218 8 101717195 [C/G] NM_002568 PABPC1 EXON Missense_L593V exm713221 8 101717255 [A/T] NM_002568 PABPC1 EXON Missense_M573L exm713222 8 101717267 [A/G] NM_002568 PABPC1 EXON Missense_L569F exm713224 8 101717819 [A/G] NM_002568 PABPC1 EXON Missense_L562S exm713226 8 101717832 [C/G] NM_002568 PABPC1 EXON Missense_Q558E exm713246 8 101719121 [A/G] NM_002568 PABPC1 EXON Missense_R481C exm713247 8 101719138 [T/C] NM_002568 PABPC1 EXON Missense_R475Q exm713248 8 101719199 [A/G] NM_002568 PABPC1 EXON Missense_R455C exm713255 8 101721430 [A/G] NM_002568 PABPC1 EXON Missense_Y423H exm713258 8 101721692 [A/G] NM_002568 PABPC1 EXON Missense_P414S exm713259 8 101721705 [T/G] NM_002568 PABPC1 EXON Missense_F409L exm713260 8 101721709 [T/A] NM_002568 PABPC1 EXON Missense_Y408F exm713261 8 101721727 [A/G] NM_002568 PABPC1 EXON Missense_P402L exm713278 8 101724606 [A/G] NM_002568 PABPC1 EXON Missense_T319I exm713289 8 101725003 [A/C] NM_002568 PABPC1 EXON Missense_M251I exm713295 8 101725374 [T/C] NM_002568 PABPC1 EXON Missense_S227G exm713296 8 101725401 [A/C] NM_002568 PABPC1 EXON Missense_L218V exm713297 8 101725408 [G/C] NM_002568 PABPC1 EXON Synonymous_G215G exm713301 8 101727714 [A/G] NM_002568 PABPC1 EXON Missense_L207F exm713307 8 101727801 [T/C] NM_002568 PABPC1 EXON Missense_E178K exm713311 8 101730010 [T/C] NM_002568 PABPC1 EXON Missense_D165G exm713312 8 101730043 [C/G] NM_002568 PABPC1 EXON Missense_A154G exm713316 8 101730110 [A/C] NM_002568 PABPC1 EXON Missense_C132G exm-rs3108919 8 101841546 [T/C] exm2266663 8 102013597 [A/G] exm2271003 8 102050512 [T/C] exm713366 8 102213962 [C/G] NM_001042510,NM_001267708,NM_016096,NM_001267709 ZNF706,ZNF706,ZNF706,ZNF706 EXON Missense_R3P,Missense_R3P,Missense_R3P,Missense_R3P exm-rs1264202 8 102227923 [A/C] exm713372 8 102555474 [A/G] NM_024915 GRHL2 EXON Missense_K9R exm713378 8 102564943 [A/G] NM_024915 GRHL2 EXON Missense_V73I exm713381 8 102570816 [A/G] NM_024915 GRHL2 EXON Missense_V152M exm713384 8 102570910 [A/G] NM_024915 GRHL2 EXON Missense_R183Q exm713393 8 102582577 [A/G] NM_024915 GRHL2 EXON Missense_S230N exm713398 8 102585937 [A/G] NM_024915 GRHL2 EXON Missense_R259H exm713417 8 102631911 [A/G] NM_024915 GRHL2 EXON Missense_V415I exm713454 8 102701611 [T/C] NM_001040624,NM_032041,NM_001040629,NM_001040630,NM_001040628,NM_001040627,NM_001040625,NM_001040626 NCALD,NCALD,NCALD,NCALD,NCALD,NCALD,NCALD,NCALD EXON Missense_I170V,Missense_I170V,Missense_I170V,Missense_I170V,Missense_I170V,Missense_I170V,Missense_I170V,Missense_I170V exm2270901 8 102706618 [T/C] NM_001040624,NM_032041,NM_001040629,NM_001040630,NM_001040628,NM_001040627,NM_001040625,NM_001040626 NCALD,NCALD,NCALD,NCALD,NCALD,NCALD,NCALD,NCALD Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm2262391 8 102836613 [T/C] NM_001040624,NM_001040629,NM_001040630,NM_001040628,NM_001040627,NM_001040625,NM_001040626 NCALD,NCALD,NCALD,NCALD,NCALD,NCALD,NCALD Silent,Silent,Silent,Silent,Silent,Silent,Silent exm2159720 8 103225061 [C/G] NM_001172478,NM_015713,NM_001172477 RRM2B,RRM2B,RRM2B EXON Missense_M230I,Missense_M282I,Missense_M354I exm713486 8 103244460 [A/G] NM_001172478,NM_015713,NM_001172477 RRM2B,RRM2B,RRM2B EXON Silent,Missense_R41W,Missense_R113W exm713492 8 103250930 [T/C] NM_001172478,NM_015713,NM_001172477 RRM2B,RRM2B,RRM2B EXON Silent,Silent,Missense_A41T exm713494 8 103250959 [C/G] NM_001172478,NM_015713,NM_001172477 RRM2B,RRM2B,RRM2B EXON Silent,Silent,Missense_R31P exm713497 8 103251007 [A/G] NM_001172478,NM_015713,NM_001172477 RRM2B,RRM2B,RRM2B EXON Silent,Silent,Missense_P15L exm713498 8 103251034 [A/C] NM_001172478,NM_015713,NM_001172477 RRM2B,RRM2B,RRM2B EXON Silent,Silent,Missense_L6R exm713511 8 103269898 [T/C] NM_015902 UBR5 EXON Missense_I2717V exm713535 8 103277485 [T/C] NM_015902 UBR5 EXON Missense_G2482S exm713553 8 103284987 [T/C] NM_015902 UBR5 EXON Missense_R2248Q exm713560 8 103289330 [T/C] NM_015902 UBR5 EXON Missense_V2127M exm713566 8 103291407 [A/G] NM_015902 UBR5 EXON Missense_S2011P exm2159758 8 103293539 [T/A] NM_015902 UBR5 EXON Missense_T1969S exm713603 8 103298591 [A/C] NM_015902 UBR5 EXON Missense_A1738S exm713631 8 103307557 [A/G] NM_015902 UBR5 EXON Synonymous_D1311D exm2159790 8 103308010 [T/C] NM_015902 UBR5 EXON Synonymous_K1222K exm713674 8 103317403 [T/C] NM_015902 UBR5 EXON Missense_S913G exm713711 8 103327008 [T/C] NM_015902 UBR5 EXON Missense_A620T exm713720 8 103338800 [T/C] NM_015902 UBR5 EXON Missense_M525V exm713724 8 103340036 [T/C] NM_015902 UBR5 EXON Missense_R472Q exm713748 8 103372339 [T/C] NM_015902 UBR5 EXON Missense_G116S exm2159836 8 103372401 [T/C] NM_015902 UBR5 EXON Missense_N95S exm2266665 8 103553703 [A/G] exm713769 8 103564006 [C/G] NM_024410 ODF1 EXON Missense_K17N exm713776 8 103564056 [A/G] NM_024410 ODF1 EXON Missense_R34Q exm713788 8 103564221 [T/G] NM_024410 ODF1 EXON Missense_S89I exm713795 8 103572822 [A/G] NM_024410 ODF1 EXON Missense_E155K exm713809 8 103573026 [A/C] NM_024410 ODF1 EXON Missense_P223T exm713814 8 103573042 [A/G] NM_024410 ODF1 EXON Missense_S228N exm713815 8 103573044 [A/C] NM_024410 ODF1 EXON Missense_P229T exm713819 8 103573086 [T/C] NM_024410 ODF1 EXON Missense_F243L exm713833 8 103663473 [A/C] NM_005655,NM_001032282 KLF10,KLF10 EXON Missense_S363A,Missense_S352A exm713835 8 103663497 [A/C] NM_005655,NM_001032282 KLF10,KLF10 EXON Missense_A355S,Missense_A344S exm713839 8 103663614 [T/C] NM_005655,NM_001032282 KLF10,KLF10 EXON Missense_A316T,Missense_A305T exm713840 8 103663619 [T/C] NM_005655,NM_001032282 KLF10,KLF10 EXON Missense_K314R,Missense_K303R exm2159859 8 103663692 [T/C] NM_005655,NM_001032282 KLF10,KLF10 EXON Missense_V290I,Missense_V279I exm713849 8 103663755 [A/G] NM_005655,NM_001032282 KLF10,KLF10 EXON Missense_P269S,Missense_P258S exm713851 8 103663814 [A/G] NM_005655,NM_001032282 KLF10,KLF10 EXON Missense_S249F,Missense_S238F exm713855 8 103663886 [T/C] NM_005655,NM_001032282 KLF10,KLF10 EXON Missense_S225N,Missense_S214N exm713856 8 103663901 [A/G] NM_005655,NM_001032282 KLF10,KLF10 EXON Missense_V220A,Missense_V209A exm713860 8 103663914 [T/C] NM_005655,NM_001032282 KLF10,KLF10 EXON Missense_T216A,Missense_T205A exm713866 8 103663994 [G/C] NM_005655,NM_001032282 KLF10,KLF10 EXON Missense_T189S,Missense_T178S exm713867 8 103664003 [A/C] NM_005655,NM_001032282 KLF10,KLF10 EXON Missense_R186I,Missense_R175I exm713874 8 103664174 [A/T] NM_005655,NM_001032282 KLF10,KLF10 EXON Missense_H129L,Missense_H118L exm713877 8 103664488 [T/G] NM_005655,NM_001032282 KLF10,KLF10 EXON Missense_K58N,Missense_K47N exm713897 8 103840806 [T/C] NM_148174,NM_015878 AZIN1,AZIN1 EXON Missense_A446T,Missense_A446T exm713898 8 103840813 [T/G] NM_148174,NM_015878 AZIN1,AZIN1 EXON Missense_S443R,Missense_S443R exm713912 8 103842091 [A/C] NM_148174,NM_015878 AZIN1,AZIN1 EXON Missense_S326R,Missense_S326R exm713923 8 103846946 [A/G] NM_148174,NM_015878 AZIN1,AZIN1 EXON Missense_S205F,Missense_S205F exm713931 8 103851047 [T/G] NM_148174,NM_015878 AZIN1,AZIN1 EXON Missense_K125T,Missense_K125T exm713934 8 103851090 [T/C] NM_148174,NM_015878 AZIN1,AZIN1 EXON Missense_I111V,Missense_I111V exm713945 8 103852050 [A/G] NM_148174,NM_015878 AZIN1,AZIN1 EXON Missense_T35I,Missense_T35I exm2271005 8 103981314 [T/C] exm713982 8 104078558 [T/G] NM_001695 ATP6V1C1 EXON Missense_L312F exm713986 8 104078662 [T/C] NM_001695 ATP6V1C1 EXON Missense_A347V exm2270902 8 104223564 [T/G] NM_001024372,NM_024812 BAALC,BAALC Silent,Silent exm714010 8 104225186 [A/G] NM_001024372,NM_024812 BAALC,BAALC EXON Silent,Missense_R67Q exm2274321 8 104225209 [A/C] NM_001024372,NM_024812 BAALC,BAALC EXON Silent,Missense_P75T exm2159967 8 104240224 [A/G] NM_001024372,NM_024812 BAALC,BAALC EXON Silent,Missense_R112K exm714014 8 104240275 [C/G] NM_001024372,NM_024812 BAALC,BAALC EXON Silent,Missense_S129T exm714021 8 104312381 [G/C] NM_001164615,NM_003506,NM_001164616 FZD6,FZD6,FZD6 EXON Missense_L16V,Missense_L16V,Silent exm714024 8 104312432 [A/G] NM_001164615,NM_003506,NM_001164616 FZD6,FZD6,FZD6 EXON Missense_M33V,Missense_M33V,Missense_M1V exm714037 8 104336752 [T/C] NM_001164615,NM_003506,NM_001164616 FZD6,FZD6,FZD6 EXON Missense_H140Y,Missense_H140Y,Missense_H108Y exm714038 8 104336788 [C/G] NM_001164615,NM_003506,NM_001164616 FZD6,FZD6,FZD6 EXON Missense_Q152E,Missense_Q152E,Missense_Q120E exm714041 8 104336878 [A/G] NM_001164615,NM_003506,NM_001164616 FZD6,FZD6,FZD6 EXON Missense_A182T,Missense_A182T,Missense_A150T exm714059 8 104337367 [A/C] NM_001164615,NM_003506,NM_001164616 FZD6,FZD6,FZD6 EXON Missense_M345L,Missense_M345L,Missense_M313L exm2159977 8 104337497 [A/C] NM_001164615,NM_003506,NM_001164616 FZD6,FZD6,FZD6 EXON Missense_A388D,Missense_A388D,Missense_A356D exm714067 8 104337548 [A/G] NM_001164615,NM_003506,NM_001164616 FZD6,FZD6,FZD6 EXON Missense_R405Q,Missense_R405Q,Missense_R373Q exm714081 8 104341899 [T/C] NM_001164615,NM_003506,NM_001164616 FZD6,FZD6,FZD6 EXON Nonsense_R520X,Nonsense_R520X,Nonsense_R488X exm714095 8 104342194 [T/C] NM_001164615,NM_003506,NM_001164616 FZD6,FZD6,FZD6 EXON Missense_P618L,Missense_P618L,Missense_P586L exm714105 8 104343607 [A/C] NM_001164615,NM_003506,NM_001164616 FZD6,FZD6,FZD6 EXON Missense_A664E,Missense_A664E,Missense_A632E exm714121 8 104388009 [A/G] NM_138455,NM_001256099 CTHRC1,CTHRC1 EXON Missense_R65Q,Missense_R51Q exm714128 8 104388106 [G/C] NM_138455,NM_001256099 CTHRC1,CTHRC1 EXON Missense_S97R,Missense_S83R exm714131 8 104388187 [A/G] NM_138455,NM_001256099 CTHRC1,CTHRC1 EXON Synonymous_A124A,Synonymous_A110A exm714138 8 104390349 [A/G] NM_138455,NM_001256099 CTHRC1,CTHRC1 EXON Missense_R156H,Missense_R142H exm714140 8 104390444 [A/G] NM_138455,NM_001256099 CTHRC1,CTHRC1 EXON Missense_T188A,Missense_T174A exm714142 8 104390460 [A/G] NM_138455,NM_001256099 CTHRC1,CTHRC1 EXON Missense_R193H,Missense_R179H exm714143 8 104394704 [A/G] NM_138455,NM_001256099 CTHRC1,CTHRC1 EXON Missense_G203E,Missense_G189E exm714144 8 104394710 [T/G] NM_138455,NM_001256099 CTHRC1,CTHRC1 EXON Missense_G205V,Missense_G191V exm714154 8 104412688 [T/C] NM_030780 SLC25A32 EXON Missense_Y300C exm714155 8 104412728 [T/C] NM_030780 SLC25A32 EXON Missense_I287V exm714158 8 104412761 [T/C] NM_030780 SLC25A32 EXON Missense_G276S exm714164 8 104413814 [T/C] NM_030780 SLC25A32 EXON Missense_V248I exm714169 8 104413858 [A/G] NM_030780 SLC25A32 EXON Missense_L233P exm714174 8 104414254 [A/G] NM_030780 SLC25A32 EXON Missense_S194L exm714176 8 104415456 [T/C] NM_030780 SLC25A32 EXON Missense_Y163C exm714178 8 104415504 [T/C] NM_030780 SLC25A32 EXON Missense_R147H exm714179 8 104415519 [T/C] NM_030780 SLC25A32 EXON Nonsense_W142X exm714182 8 104417045 [T/C] NM_030780 SLC25A32 EXON Missense_R117H exm714204 8 104427354 [T/C] NM_030780,NM_015420 SLC25A32,DCAF13 EXON Silent,Missense_H46Y exm714205 8 104427359 [A/C] NM_030780,NM_015420 SLC25A32,DCAF13 EXON Silent,Missense_R47S exm714212 8 104427424 [G/C] NM_030780,NM_015420 SLC25A32,DCAF13 EXON Silent,Missense_P69R exm714214 8 104427450 [T/C] NM_030780,NM_015420 SLC25A32,DCAF13 EXON Silent,Missense_H78Y exm714215 8 104427453 [C/G] NM_030780,NM_015420 SLC25A32,DCAF13 EXON Silent,Missense_G79R exm714226 8 104427541 [T/C] NM_015420 DCAF13 EXON Missense_P108L exm714229 8 104427544 [G/C] NM_015420 DCAF13 EXON Missense_A109G exm714231 8 104427552 [G/C] NM_015420 DCAF13 EXON Missense_R112G exm714234 8 104427581 [T/G] NM_015420 DCAF13 EXON Missense_S121R exm2160008 8 104427617 [A/G] NM_015420 DCAF13 EXON Nonsense_W133X exm2246283 8 104427682 [T/C] NM_015420 DCAF13 EXON Missense_V155A exm714247 8 104432617 [T/C] NM_015420 DCAF13 EXON Missense_R218C exm714250 8 104432659 [A/G] NM_015420 DCAF13 EXON Missense_A232T exm2160013 8 104438333 [A/G] NM_015420 DCAF13 EXON Missense_Y295C exm714273 8 104444927 [T/C] NM_015420 DCAF13 EXON Missense_P400L exm714274 8 104444948 [T/C] NM_015420 DCAF13 EXON Missense_T407I exm2266666 8 104447105 [A/G] NM_015420 DCAF13 Silent exm714280 8 104447976 [A/G] NM_015420 DCAF13 EXON Missense_D455G exm2160020 8 104447987 [T/C] NM_015420 DCAF13 EXON Nonsense_R459X exm714283 8 104447992 [C/G] NM_015420 DCAF13 EXON Missense_I460M exm714289 8 104453762 [A/G] NM_015420 DCAF13 EXON Missense_R541H exm714295 8 104453836 [T/C] NM_015420 DCAF13 EXON Missense_R566C exm714296 8 104453843 [A/G] NM_015420 DCAF13 EXON Missense_R568Q exm714319 8 104778513 [G/C] NM_001100117 RIMS2 EXON Missense_A149G exm714326 8 104778627 [T/C] NM_001100117 RIMS2 EXON Missense_T187I exm714333 8 104778752 [A/G] NM_001100117 RIMS2 EXON Missense_I229V exm714340 8 104897539 [T/C] NM_001100117,NM_014677 RIMS2,RIMS2 EXON Missense_S238P,Missense_S46P exm714344 8 104897606 [G/C] NM_001100117,NM_014677 RIMS2,RIMS2 EXON Missense_A260G,Missense_A68G exm714347 8 104897660 [T/C] NM_001100117,NM_014677 RIMS2,RIMS2 EXON Missense_S278F,Missense_S86F exm714351 8 104897687 [A/T] NM_001100117,NM_014677 RIMS2,RIMS2 EXON Missense_D287V,Missense_D95V exm714354 8 104897806 [A/G] NM_001100117,NM_014677 RIMS2,RIMS2 EXON Missense_E327K,Missense_E135K exm714357 8 104897852 [A/G] NM_001100117,NM_014677 RIMS2,RIMS2 EXON Missense_Y342C,Missense_Y150C exm2160188 8 104897973 [T/G] NM_001100117,NM_014677 RIMS2,RIMS2 EXON Missense_R382S,Missense_R190S exm714363 8 104898040 [T/G] NM_001100117,NM_014677 RIMS2,RIMS2 EXON Nonsense_E405X,Nonsense_E213X exm714364 8 104898041 [T/A] NM_001100117,NM_014677 RIMS2,RIMS2 EXON Missense_E405V,Missense_E213V exm714366 8 104898074 [A/G] NM_001100117,NM_014677 RIMS2,RIMS2 EXON Missense_R416Q,Missense_R224Q exm714372 8 104898337 [A/G] NM_001100117,NM_014677 RIMS2,RIMS2 EXON Missense_G504S,Missense_G312S exm714383 8 104924317 [T/C] NM_001100117,NM_014677 RIMS2,RIMS2 EXON Missense_R577C,Missense_R385C exm714386 8 104924365 [G/C] NM_001100117,NM_014677 RIMS2,RIMS2 EXON Missense_V593L,Missense_V401L exm714387 8 104924389 [T/C] NM_001100117,NM_014677 RIMS2,RIMS2 EXON Missense_L601F,Missense_L409F exm714388 8 104927747 [A/T] NM_001100117,NM_014677 RIMS2,RIMS2 EXON Missense_S613T,Missense_S421T exm714405 8 104933962 [A/C] NM_001100117,NM_014677 RIMS2,RIMS2 EXON Missense_S716R,Missense_S524R exm714413 8 104943491 [A/G] NM_001100117,NM_014677 RIMS2,RIMS2 EXON Missense_I749V,Missense_I541V exm714415 8 104943552 [A/C] NM_001100117,NM_014677 RIMS2,RIMS2 EXON Missense_D769A,Missense_D561A exm714419 8 104943577 [T/G] NM_001100117,NM_014677 RIMS2,RIMS2 EXON Missense_R777S,Missense_R569S exm714429 8 104955040 [A/C] NM_001100117,NM_014677 RIMS2,RIMS2 EXON Missense_P863T,Missense_P655T exm714432 8 104955109 [C/G] NM_001100117,NM_014677 RIMS2,RIMS2 EXON Missense_P886A,Missense_P678A exm714444 8 104987598 [G/C] NM_001100117,NM_014677 RIMS2,RIMS2 EXON Missense_D931H,Missense_D723H exm714449 8 104987649 [T/C] NM_001100117,NM_014677 RIMS2,RIMS2 EXON Missense_H948Y,Missense_H740Y exm714455 8 105001543 [A/G] NM_001100117,NM_014677 RIMS2,RIMS2 EXON Missense_E980K,Missense_E772K exm714459 8 105001576 [A/G] NM_001100117,NM_014677 RIMS2,RIMS2 EXON Missense_G991R,Missense_G783R exm714461 8 105001597 [G/C] NM_001100117,NM_014677 RIMS2,RIMS2 EXON Missense_R998G,Missense_R790G exm714462 8 105001620 [A/G] NM_001100117,NM_014677 RIMS2,RIMS2 EXON Missense_M1005I,Missense_M797I exm2160224 8 105001628 [A/G] NM_001100117,NM_014677 RIMS2,RIMS2 EXON Missense_H1008R,Missense_H800R exm714468 8 105010471 [A/G] NM_001100117,NM_014677 RIMS2,RIMS2 EXON Silent,Missense_D827N exm714473 8 105025771 [A/G] NM_001100117,NM_014677 RIMS2,RIMS2 EXON Missense_R1049H,Missense_R863H exm2271006 8 105084341 [T/C] NM_001100117,NM_014677 RIMS2,RIMS2 Silent,Silent exm2266667 8 105185621 [A/G] NM_001100117,NM_014677 RIMS2,RIMS2 Silent,Silent exm714506 8 105257186 [T/C] NM_001100117,NM_014677 RIMS2,RIMS2 EXON Missense_T1126I,Missense_T940I exm714515 8 105261759 [A/G] NM_001100117,NM_014677 RIMS2,RIMS2 EXON Missense_V1212I,Missense_V1026I exm714524 8 105263855 [T/G] NM_001100117,NM_014677 RIMS2,RIMS2 EXON Missense_R1286L,Missense_R1100L exm714525 8 105263870 [A/C] NM_001100117,NM_014677 RIMS2,RIMS2 EXON Missense_S1291Y,Missense_S1105Y exm714530 8 105264022 [A/G] NM_001100117,NM_014677 RIMS2,RIMS2 EXON Missense_T1342A,Missense_T1156A exm-rs2458413 8 105359432 [T/C] NM_001257317,NM_030788 DCSTAMP,DCSTAMP Silent,Silent exm714538 8 105360898 [A/G] NM_001257317,NM_030788 DCSTAMP,DCSTAMP EXON Missense_A40T,Missense_A40T exm2160259 8 105360931 [A/G] NM_001257317,NM_030788 DCSTAMP,DCSTAMP EXON Missense_A51T,Missense_A51T exm714545 8 105360994 [A/C] NM_001257317,NM_030788 DCSTAMP,DCSTAMP EXON Missense_L72M,Missense_L72M exm2246306 8 105361091 [T/G] NM_001257317,NM_030788 DCSTAMP,DCSTAMP EXON Missense_G104V,Missense_G104V exm714557 8 105361354 [G/C] NM_001257317,NM_030788 DCSTAMP,DCSTAMP EXON Missense_E192Q,Missense_E192Q exm714561 8 105361427 [T/C] NM_001257317,NM_030788 DCSTAMP,DCSTAMP EXON Missense_A216V,Missense_A216V exm714580 8 105361634 [T/C] NM_001257317,NM_030788 DCSTAMP,DCSTAMP EXON Silent,Missense_P285L exm714583 8 105361697 [T/G] NM_001257317,NM_030788 DCSTAMP,DCSTAMP EXON Silent,Missense_I306S exm714585 8 105361724 [A/T] NM_001257317,NM_030788 DCSTAMP,DCSTAMP EXON Silent,Missense_Y315F exm714594 8 105367121 [A/G] NM_001257317,NM_030788 DCSTAMP,DCSTAMP EXON Silent,Missense_D349G exm714595 8 105367124 [T/C] NM_001257317,NM_030788 DCSTAMP,DCSTAMP EXON Silent,Missense_I350T exm714596 8 105367185 [A/C] NM_001257317,NM_030788 DCSTAMP,DCSTAMP EXON Silent,Missense_K370N exm714601 8 105367264 [T/C] NM_001257317,NM_030788 DCSTAMP,DCSTAMP EXON Silent,Missense_L397F exm714603 8 105367309 [A/G] NM_001257317,NM_030788 DCSTAMP,DCSTAMP EXON Silent,Missense_V412M exm714605 8 105367358 [C/G] NM_001257317,NM_030788 DCSTAMP,DCSTAMP EXON Silent,Missense_R428T exm714607 8 105367370 [T/C] NM_001257317,NM_030788 DCSTAMP,DCSTAMP EXON Silent,Missense_P432L exm714619 8 105393497 [T/C] NM_001385 DPYS EXON Missense_V497I exm714620 8 105393517 [T/C] NM_001385 DPYS EXON Missense_R490H exm714621 8 105393518 [A/G] NM_001385 DPYS EXON Missense_R490C exm2262395 8 105395583 [A/G] NM_001385 DPYS Silent exm714622 8 105405011 [T/C] NM_001385 DPYS Silent exm714624 8 105405032 [A/G] NM_001385 DPYS EXON Nonsense_R475X exm714625 8 105405062 [A/G] NM_001385 DPYS EXON Nonsense_R465X exm714642 8 105440222 [A/G] NM_001385 DPYS EXON Missense_W360R exm714647 8 105440273 [T/C] NM_001385 DPYS EXON Missense_T343A exm2160281 8 105440299 [T/C] NM_001385 DPYS EXON Missense_Q334R exm714654 8 105441819 [A/G] NM_001385 DPYS EXON Nonsense_R302X exm714663 8 105456533 [T/G] NM_001385 DPYS EXON Missense_I246L exm714675 8 105459601 [A/C] NM_001385 DPYS EXON Missense_I185S exm714677 8 105459614 [A/G] NM_001385 DPYS EXON Missense_R181W exm714704 8 105479120 [T/C] NM_001385 DPYS EXON Missense_R10H exm714705 8 105479130 [C/G] NM_001385 DPYS EXON Missense_L7V exm714706 8 105479132 [T/C] NM_001385 DPYS EXON Missense_R6Q exm714719 8 105502999 [A/G] NM_001135703,NM_013437 LRP12,LRP12 EXON Missense_R809C,Missense_R828C exm714721 8 105503097 [A/G] NM_001135703,NM_013437 LRP12,LRP12 EXON Missense_L776P,Missense_L795P exm714724 8 105503152 [T/G] NM_001135703,NM_013437 LRP12,LRP12 EXON Missense_I758L,Missense_I777L exm714731 8 105503260 [A/G] NM_001135703,NM_013437 LRP12,LRP12 EXON Missense_R722C,Missense_R741C exm714732 8 105503287 [A/G] NM_001135703,NM_013437 LRP12,LRP12 EXON Missense_R713C,Missense_R732C exm714736 8 105503401 [T/C] NM_001135703,NM_013437 LRP12,LRP12 EXON Missense_S675G,Missense_S694G exm2160306 8 105509512 [T/C] NM_001135703,NM_013437 LRP12,LRP12 EXON Missense_N404S,Missense_N423S exm714764 8 105509717 [A/C] NM_001135703,NM_013437 LRP12,LRP12 EXON Missense_C336G,Missense_C355G exm714772 8 105509897 [C/G] NM_001135703,NM_013437 LRP12,LRP12 EXON Missense_R276G,Missense_R295G exm714780 8 105510131 [A/C] NM_001135703,NM_013437 LRP12,LRP12 EXON Missense_Y198D,Missense_Y217D exm2270903 8 105805344 [T/C] exm-rs16872085 8 105957540 [A/G] exm-rs977396 8 105992696 [A/G] exm2266668 8 106118299 [A/G] exm-rs9297357 8 106142333 [T/C] exm714811 8 106431375 [T/C] NM_012082 ZFPM2 EXON Missense_P15L exm714813 8 106431420 [A/G] NM_012082 ZFPM2 EXON Missense_E30G exm714815 8 106431452 [C/G] NM_012082 ZFPM2 EXON Missense_P41A exm714821 8 106431522 [A/G] NM_012082 ZFPM2 EXON Missense_C64Y exm714826 8 106456600 [A/G] NM_012082 ZFPM2 EXON Missense_D98N exm714827 8 106573591 [A/G] NM_012082 ZFPM2 EXON Missense_G101E exm2262396 8 106593207 [A/C] NM_012082 ZFPM2 Silent exm714829 8 106646489 [G/C] NM_012082 ZFPM2 EXON Missense_V146L exm714832 8 106646516 [A/G] NM_012082 ZFPM2 EXON Missense_K155E exm2270904 8 106772453 [T/G] NM_012082 ZFPM2 Silent exm714837 8 106801031 [A/G] NM_012082 ZFPM2 EXON Synonymous_L206L exm2258580 8 106801031 [A/G] NM_012082 ZFPM2 EXON Synonymous_L206L exm714838 8 106801042 [G/C] NM_012082 ZFPM2 EXON Missense_S210T exm714840 8 106801092 [A/G] NM_012082 ZFPM2 EXON Missense_I227V exm714847 8 106810991 [A/G] NM_012082 ZFPM2 EXON Missense_R260Q exm714858 8 106813325 [A/G] NM_012082 ZFPM2 EXON Missense_V339I exm714862 8 106813470 [G/C] NM_012082 ZFPM2 EXON Missense_P387R exm714864 8 106813518 [G/C] NM_012082 ZFPM2 EXON Missense_A403G exm714865 8 106813537 [T/G] NM_012082 ZFPM2 EXON Missense_Q409H exm714868 8 106813586 [A/G] NM_012082 ZFPM2 EXON Missense_A426T exm2160406 8 106813628 [A/G] NM_012082 ZFPM2 EXON Missense_K440E exm714884 8 106813942 [A/G] NM_012082 ZFPM2 EXON Missense_M544I exm714891 8 106814181 [C/G] NM_012082 ZFPM2 EXON Missense_S624C exm714894 8 106814279 [A/G] NM_012082 ZFPM2 EXON Missense_S657G exm2160408 8 106814417 [A/C] NM_012082 ZFPM2 EXON Missense_M703L exm714902 8 106814597 [A/G] NM_012082 ZFPM2 EXON Missense_V763I exm714905 8 106814656 [C/G] NM_012082 ZFPM2 EXON Missense_E782D exm714911 8 106814811 [A/G] NM_012082 ZFPM2 EXON Missense_K834R exm714915 8 106814975 [G/C] NM_012082 ZFPM2 EXON Missense_Q889E exm714916 8 106814997 [T/C] NM_012082 ZFPM2 EXON Missense_P896L exm714920 8 106815245 [A/G] NM_012082 ZFPM2 EXON Missense_D979N exm714921 8 106815273 [A/C] NM_012082 ZFPM2 EXON Missense_K988T exm714924 8 106815359 [A/G] NM_012082 ZFPM2 EXON Missense_G1017S exm714926 8 106815396 [T/A] NM_012082 ZFPM2 EXON Missense_K1029I exm714928 8 106815474 [T/C] NM_012082 ZFPM2 EXON Missense_A1055V exm714929 8 106815488 [G/C] NM_012082 ZFPM2 EXON Missense_Q1060E exm2160416 8 106815578 [A/G] NM_012082 ZFPM2 EXON Missense_V1090I exm2266669 8 107096458 [A/G] exm2266752 8 107180333 [A/G] exm2266670 8 107524985 [A/G] NM_001198533,NM_018002,NM_001198532 OXR1,OXR1,OXR1 Silent,Silent,Silent exm2246317 8 107531191 [T/C] NM_001198533,NM_018002,NM_001198532 OXR1,OXR1,OXR1 EXON Missense_S15L,Missense_S15L,Missense_S16L exm714941 8 107531278 [A/C] NM_001198533,NM_018002,NM_001198532 OXR1,OXR1,OXR1 EXON Missense_T44N,Missense_T44N,Missense_T45N exm2160458 8 107691450 [A/G] NM_001198533,NM_018002,NM_001198532,NM_181354 OXR1,OXR1,OXR1,OXR1 EXON Missense_K78R,Missense_K78R,Missense_K79R,Missense_K71R exm714946 8 107691484 [C/G] NM_001198533,NM_018002,NM_001198532,NM_181354 OXR1,OXR1,OXR1,OXR1 EXON Missense_M89I,Missense_M89I,Missense_M90I,Missense_M82I exm714951 8 107695484 [A/G] NM_001198533,NM_018002,NM_001198532,NM_181354 OXR1,OXR1,OXR1,OXR1 EXON Missense_E121K,Missense_E121K,Missense_E122K,Missense_E114K exm714956 8 107696586 [T/C] NM_001198533,NM_018002,NM_001198532,NM_181354 OXR1,OXR1,OXR1,OXR1 EXON Missense_T175I,Missense_T175I,Missense_T176I,Missense_T168I exm714962 8 107705011 [A/G] NM_001198533,NM_018002,NM_001198532,NM_181354 OXR1,OXR1,OXR1,OXR1 EXON Missense_R194Q,Missense_R194Q,Missense_R195Q,Missense_R187Q exm714965 8 107705044 [A/C] NM_001198533,NM_018002,NM_001198532,NM_181354 OXR1,OXR1,OXR1,OXR1 EXON Missense_E205A,Missense_E205A,Missense_E206A,Missense_E198A exm714971 8 107715216 [A/G] NM_001198533,NM_018002,NM_001198532,NM_181354 OXR1,OXR1,OXR1,OXR1 EXON Missense_N253S,Missense_N253S,Missense_N254S,Missense_N246S exm714975 8 107718658 [T/G] NM_001198533,NM_018002,NM_001198532,NM_181354 OXR1,OXR1,OXR1,OXR1 EXON Missense_M303I,Missense_M303I,Missense_M304I,Missense_M296I exm714977 8 107718696 [A/G] NM_001198533,NM_018002,NM_001198532,NM_181354 OXR1,OXR1,OXR1,OXR1 EXON Missense_R316Q,Missense_R316Q,Missense_R317Q,Missense_R309Q exm714979 8 107718708 [A/G] NM_001198533,NM_018002,NM_001198532,NM_181354 OXR1,OXR1,OXR1,OXR1 EXON Missense_N320S,Missense_N320S,Missense_N321S,Missense_N313S exm714982 8 107718755 [A/G] NM_001198533,NM_018002,NM_001198532,NM_181354 OXR1,OXR1,OXR1,OXR1 EXON Missense_E336K,Missense_E336K,Missense_E337K,Missense_E329K exm714985 8 107718801 [T/G] NM_001198533,NM_018002,NM_001198532,NM_181354 OXR1,OXR1,OXR1,OXR1 EXON Missense_L351R,Missense_L351R,Missense_L352R,Missense_L344R exm2274322 8 107718845 [T/A] NM_001198533,NM_018002,NM_001198532,NM_181354 OXR1,OXR1,OXR1,OXR1 EXON Missense_S366T,Missense_S366T,Missense_S367T,Missense_S359T exm714994 8 107719194 [T/C] NM_001198533,NM_018002,NM_001198532,NM_181354 OXR1,OXR1,OXR1,OXR1 EXON Missense_V482A,Missense_V482A,Missense_V483A,Missense_V475A exm714998 8 107719293 [A/G] NM_001198533,NM_018002,NM_001198532,NM_181354 OXR1,OXR1,OXR1,OXR1 EXON Missense_K515R,Missense_K515R,Missense_K516R,Missense_K508R exm715008 8 107722925 [A/G] NM_001198533,NM_018002,NM_001198532,NM_181354 OXR1,OXR1,OXR1,OXR1 EXON Missense_R567K,Missense_R567K,Missense_R568K,Missense_R560K exm715018 8 107738486 [A/G] NM_001198533,NM_018002,NM_001198532,NM_181354,NM_001198535,NM_001198534 OXR1,OXR1,OXR1,OXR1,OXR1,OXR1 EXON Silent,Silent,Silent,Silent,Nonsense_W5X,Nonsense_W5X exm715046 8 107773278 [A/G] NM_139166 ABRA EXON Missense_T378M exm715047 8 107773280 [A/C] NM_139166 ABRA EXON Missense_I377M exm2160491 8 107773623 [T/C] NM_139166 ABRA EXON Missense_N263S exm715082 8 107782074 [T/G] NM_139166 ABRA EXON Missense_S115R exm715083 8 107782090 [A/G] NM_139166 ABRA EXON Missense_S110F exm715099 8 107782313 [A/G] NM_139166 ABRA EXON Missense_W36R exm715107 8 107782394 [T/C] NM_139166 ABRA EXON Missense_G9R exm715112 8 107782411 [A/G] NM_139166 ABRA EXON Missense_P3L exm2266753 8 107908032 [A/G] exm2270905 8 108102817 [T/G] exm715123 8 108296964 [T/C] NM_001146,NM_001199859 ANGPT1,ANGPT1 EXON Missense_R384Q,Missense_R383Q exm715127 8 108297005 [C/G] NM_001146,NM_001199859 ANGPT1,ANGPT1 EXON Missense_Q370H,Missense_Q369H exm715128 8 108297040 [T/C] NM_001146,NM_001199859 ANGPT1,ANGPT1 EXON Missense_N359D,Missense_N358D exm715137 8 108334162 [T/G] NM_001146,NM_001199859 ANGPT1,ANGPT1 EXON Missense_T257K,Missense_T257K exm715140 8 108334192 [A/G] NM_001146,NM_001199859 ANGPT1,ANGPT1 EXON Missense_L247P,Missense_L247P exm2258584 8 108386442 [T/C] NM_001146,NM_001199859 ANGPT1,ANGPT1 Silent,Silent exm715150 8 108509502 [G/C] NM_001146,NM_001199859 ANGPT1,ANGPT1 EXON Missense_Q95H,Missense_Q95H exm715160 8 108509677 [T/C] NM_001146,NM_001199859 ANGPT1,ANGPT1 EXON Missense_Q37R,Missense_Q37R exm715169 8 108970309 [T/C] NM_178565 RSPO2 EXON Synonymous_G205G exm715172 8 108970367 [A/G] NM_178565 RSPO2 EXON Missense_L186P exm715183 8 108972931 [A/G] NM_178565 RSPO2 EXON Missense_A133V exm2258586 8 109067078 [A/G] NM_178565 RSPO2 Silent exm2160567 8 109241340 [T/C] NM_001568 EIF3E EXON Missense_M186V exm2266672 8 109571545 [A/G] exm-rs2935776 8 109629903 [A/G] exm715283 8 109796415 [T/C] NM_153015 TMEM74 EXON Missense_S305G exm715289 8 109796529 [A/G] NM_153015 TMEM74 EXON Missense_S267P exm715303 8 109796825 [A/G] NM_153015 TMEM74 EXON Missense_T168M exm715306 8 109796987 [A/G] NM_153015 TMEM74 EXON Missense_V114A exm715311 8 109797048 [T/C] NM_153015 TMEM74 EXON Missense_T94A exm715314 8 109797102 [A/G] NM_153015 TMEM74 EXON Missense_L76F exm2262401 8 109979163 [A/G] exm2258588 8 110007151 [T/G] exm-rs12543567 8 110027347 [T/C] exm715326 8 110099771 [A/C] NM_003301 TRHR EXON Missense_N10K exm715334 8 110099922 [A/G] NM_003301 TRHR EXON Missense_N61D exm2246331 8 110100245 [T/G] NM_003301 TRHR EXON Missense_I168M exm-rs7832552 8 110115676 [T/C] NM_003301 TRHR Silent exm715362 8 110131656 [T/C] NM_003301 TRHR EXON Missense_A390V exm715367 8 110255347 [A/G] NM_001128211,NM_032869 NUDCD1,NUDCD1 EXON Missense_A519V,Missense_A548V exm715381 8 110283256 [T/C] NM_001128211,NM_032869 NUDCD1,NUDCD1 EXON Missense_N397S,Missense_N426S exm715385 8 110283353 [T/G] NM_001128211,NM_032869 NUDCD1,NUDCD1 EXON Missense_N365H,Missense_N394H exm715388 8 110287630 [T/C] NM_001128211,NM_032869 NUDCD1,NUDCD1 EXON Missense_Q346R,Missense_Q375R exm715389 8 110287669 [A/G] NM_001128211,NM_032869 NUDCD1,NUDCD1 EXON Missense_I333T,Missense_I362T exm715396 8 110301998 [T/C] NM_001128211,NM_032869 NUDCD1,NUDCD1 EXON Missense_I240V,Missense_I269V exm715400 8 110302047 [T/G] NM_001128211,NM_032869 NUDCD1,NUDCD1 EXON Missense_L223F,Missense_L252F exm715407 8 110305614 [T/C] NM_001128211,NM_032869 NUDCD1,NUDCD1 EXON Missense_Y171C,Missense_Y200C exm715410 8 110305674 [A/G] NM_001128211,NM_032869 NUDCD1,NUDCD1 EXON Missense_I151T,Missense_I180T exm715413 8 110308630 [T/C] NM_001128211,NM_032869 NUDCD1,NUDCD1 EXON Missense_A119T,Missense_A148T exm715416 8 110308776 [T/C] NM_001128211,NM_032869 NUDCD1,NUDCD1 EXON Missense_R70Q,Missense_R99Q exm2266673 8 110380421 [A/G] NM_177531 PKHD1L1 Silent exm715457 8 110393640 [T/G] NM_177531 PKHD1L1 EXON Missense_A69S exm715467 8 110394748 [C/G] NM_177531 PKHD1L1 EXON Missense_T122R exm715475 8 110397780 [A/G] NM_177531 PKHD1L1 EXON Missense_I164V exm715498 8 110406671 [A/T] NM_177531 PKHD1L1 EXON Missense_F256L exm715502 8 110406697 [T/C] NM_177531 PKHD1L1 EXON Missense_M265T exm715503 8 110408291 [T/C] NM_177531 PKHD1L1 EXON Nonsense_R283X exm715516 8 110412344 [A/G] NM_177531 PKHD1L1 EXON Missense_R351H exm715519 8 110412377 [A/G] NM_177531 PKHD1L1 EXON Missense_N362S exm715520 8 110412397 [A/G] NM_177531 PKHD1L1 EXON Missense_M369V exm715521 8 110412411 [G/C] NM_177531 PKHD1L1 EXON Missense_W373C exm715523 8 110412444 [A/T] NM_177531 PKHD1L1 EXON Missense_E384D exm715525 8 110412464 [A/G] NM_177531 PKHD1L1 EXON Missense_R391H exm715529 8 110412530 [A/G] NM_177531 PKHD1L1 EXON Missense_R413H exm715530 8 110412560 [T/G] NM_177531 PKHD1L1 EXON Missense_L423R exm2160678 8 110413752 [A/T] NM_177531 PKHD1L1 EXON Missense_N436K exm715533 8 110413762 [T/C] NM_177531 PKHD1L1 EXON Missense_Y440H exm715541 8 110416908 [T/C] NM_177531 PKHD1L1 EXON Missense_I500T exm715550 8 110418573 [T/C] NM_177531 PKHD1L1 EXON Missense_P560L exm715551 8 110418579 [A/G] NM_177531 PKHD1L1 EXON Missense_D562G exm2160689 8 110420397 [A/G] NM_177531 PKHD1L1 EXON Missense_A645T exm715558 8 110422145 [A/G] NM_177531 PKHD1L1 EXON Missense_A675T exm2160694 8 110422170 [T/G] NM_177531 PKHD1L1 EXON Missense_V683G exm715561 8 110424513 [A/C] NM_177531 PKHD1L1 EXON Missense_Q702P exm715569 8 110424597 [G/C] NM_177531 PKHD1L1 EXON Missense_P730R exm715579 8 110431367 [T/C] NM_177531 PKHD1L1 EXON Missense_T801M exm715580 8 110431439 [A/T] NM_177531 PKHD1L1 EXON Missense_Y825F exm715584 8 110432842 [A/G] NM_177531 PKHD1L1 EXON Missense_T874A exm715586 8 110432873 [A/G] NM_177531 PKHD1L1 EXON Missense_Y884C exm715589 8 110437338 [A/G] NM_177531 PKHD1L1 EXON Missense_E908K exm715592 8 110437371 [A/G] NM_177531 PKHD1L1 EXON Missense_E919K exm715593 8 110437384 [A/G] NM_177531 PKHD1L1 EXON Missense_H923R exm715595 8 110437443 [T/C] NM_177531 PKHD1L1 EXON Missense_Y943H exm715601 8 110439255 [A/C] NM_177531 PKHD1L1 EXON Missense_A957E exm715610 8 110441582 [A/G] NM_177531 PKHD1L1 EXON Missense_N1005S exm2262402 8 110442726 [A/G] NM_177531 PKHD1L1 Silent exm715621 8 110445418 [A/G] NM_177531 PKHD1L1 EXON Missense_V1105I exm715629 8 110447571 [A/G] NM_177531 PKHD1L1 EXON Missense_G1165R exm715633 8 110448635 [A/G] NM_177531 PKHD1L1 EXON Missense_T1192A exm715634 8 110448642 [A/G] NM_177531 PKHD1L1 EXON Missense_N1194S exm715638 8 110450593 [T/G] NM_177531 PKHD1L1 EXON Missense_G1223V exm715639 8 110450605 [T/C] NM_177531 PKHD1L1 EXON Missense_T1227I exm715643 8 110451125 [A/G] NM_177531 PKHD1L1 Silent exm715647 8 110451271 [A/G] NM_177531 PKHD1L1 EXON Synonymous_G1302G exm2258590 8 110451271 [A/G] NM_177531 PKHD1L1 EXON Synonymous_G1302G exm715649 8 110451306 [T/G] NM_177531 PKHD1L1 EXON Missense_G1314V exm715652 8 110453028 [A/C] NM_177531 PKHD1L1 EXON Missense_T1349N exm715655 8 110453066 [A/C] NM_177531 PKHD1L1 EXON Missense_N1362H exm715662 8 110454320 [T/C] NM_177531 PKHD1L1 EXON Missense_P1430L exm715665 8 110454337 [A/G] NM_177531 PKHD1L1 EXON Missense_G1436R exm715666 8 110454373 [A/G] NM_177531 PKHD1L1 EXON Missense_V1448I exm715671 8 110455229 [A/G] NM_177531 PKHD1L1 EXON Missense_Y1483C exm715672 8 110455244 [A/C] NM_177531 PKHD1L1 EXON Missense_H1488P exm715675 8 110455321 [A/C] NM_177531 PKHD1L1 EXON Missense_R1514S exm2160731 8 110455334 [A/C] NM_177531 PKHD1L1 EXON Missense_T1518K exm715678 8 110455956 [C/G] NM_177531 PKHD1L1 EXON Missense_T1539R exm715679 8 110455964 [G/C] NM_177531 PKHD1L1 EXON Missense_L1542V exm715683 8 110456088 [A/C] NM_177531 PKHD1L1 EXON Missense_T1583K exm715687 8 110456917 [A/G] NM_177531 PKHD1L1 EXON Missense_V1607I exm2160738 8 110456971 [A/T] NM_177531 PKHD1L1 EXON Missense_M1625L exm715689 8 110456989 [A/G] NM_177531 PKHD1L1 EXON Missense_E1631K exm2160739 8 110457007 [G/C] NM_177531 PKHD1L1 EXON Missense_V1637L exm715693 8 110457131 [T/C] NM_177531 PKHD1L1 EXON Missense_T1678I exm715694 8 110457154 [A/G] NM_177531 PKHD1L1 EXON Missense_V1686I exm715710 8 110457592 [T/C] NM_177531 PKHD1L1 EXON Missense_P1832S exm715713 8 110457692 [T/C] NM_177531 PKHD1L1 EXON Missense_I1865T exm715715 8 110457700 [A/G] NM_177531 PKHD1L1 EXON Missense_E1868K exm715719 8 110457745 [T/C] NM_177531 PKHD1L1 EXON Missense_R1883C exm715720 8 110457746 [T/G] NM_177531 PKHD1L1 EXON Missense_R1883L exm715722 8 110460416 [T/C] NM_177531 PKHD1L1 EXON Missense_F1941L exm715724 8 110460464 [A/G] NM_177531 PKHD1L1 EXON Missense_V1957I exm715725 8 110460488 [T/G] NM_177531 PKHD1L1 EXON Missense_V1965L exm715735 8 110461642 [A/G] NM_177531 PKHD1L1 EXON Missense_C2034Y exm2160759 8 110463284 [A/G] NM_177531 PKHD1L1 EXON Missense_A2086T exm715749 8 110463357 [T/C] NM_177531 PKHD1L1 EXON Missense_T2110I exm715750 8 110464408 [T/G] NM_177531 PKHD1L1 EXON Missense_Y2136D exm715751 8 110464429 [A/G] NM_177531 PKHD1L1 EXON Missense_I2143V exm715759 8 110464510 [A/G] NM_177531 PKHD1L1 Silent exm715764 8 110465053 [T/C] NM_177531 PKHD1L1 EXON Missense_T2205I exm715773 8 110466956 [G/C] NM_177531 PKHD1L1 EXON Missense_G2250A exm715775 8 110466971 [T/C] NM_177531 PKHD1L1 EXON Missense_P2255L exm715778 8 110467057 [T/C] NM_177531 PKHD1L1 EXON Missense_R2284W exm715779 8 110467070 [T/C] NM_177531 PKHD1L1 EXON Missense_L2288P exm715781 8 110468517 [T/C] NM_177531 PKHD1L1 EXON Missense_R2301C exm715782 8 110468518 [A/G] NM_177531 PKHD1L1 EXON Missense_R2301H exm715790 8 110471889 [T/C] NM_177531 PKHD1L1 EXON Missense_T2357I exm715792 8 110471928 [T/C] NM_177531 PKHD1L1 EXON Missense_T2370M exm715796 8 110472023 [T/C] NM_177531 PKHD1L1 EXON Missense_W2402R exm715800 8 110472066 [G/C] NM_177531 PKHD1L1 Silent exm715802 8 110474016 [A/G] NM_177531 PKHD1L1 EXON Missense_Q2421R exm715808 8 110476470 [A/G] NM_177531 PKHD1L1 EXON Missense_R2470Q exm2160788 8 110476478 [T/C] NM_177531 PKHD1L1 EXON Nonsense_R2473X exm715812 8 110476685 [T/A] NM_177531 PKHD1L1 EXON Missense_L2542M exm2160790 8 110476775 [A/C] NM_177531 PKHD1L1 EXON Synonymous_R2572R exm715817 8 110476776 [A/G] NM_177531 PKHD1L1 EXON Missense_R2572Q exm715822 8 110476953 [A/T] NM_177531 PKHD1L1 EXON Missense_F2631Y exm715823 8 110476965 [T/C] NM_177531 PKHD1L1 EXON Missense_T2635M exm715827 8 110477058 [T/G] NM_177531 PKHD1L1 EXON Missense_G2666V exm715828 8 110477066 [T/C] NM_177531 PKHD1L1 EXON Nonsense_Q2669X exm715832 8 110477162 [A/G] NM_177531 PKHD1L1 EXON Missense_G2701R exm715838 8 110477352 [A/C] NM_177531 PKHD1L1 EXON Missense_N2764T exm715839 8 110477390 [A/G] NM_177531 PKHD1L1 EXON Missense_V2777I exm715843 8 110477472 [T/C] NM_177531 PKHD1L1 EXON Missense_T2804I exm715844 8 110477475 [A/G] NM_177531 PKHD1L1 Silent exm715846 8 110478811 [G/C] NM_177531 PKHD1L1 EXON Missense_H2806Q exm715847 8 110478822 [A/C] NM_177531 PKHD1L1 EXON Missense_T2810N exm715849 8 110478824 [A/G] NM_177531 PKHD1L1 EXON Missense_V2811I exm715850 8 110478857 [T/C] NM_177531 PKHD1L1 EXON Missense_H2822Y exm715868 8 110489507 [C/G] NM_177531 PKHD1L1 EXON Missense_P2991A exm715878 8 110492244 [T/A] NM_177531 PKHD1L1 EXON Missense_D3068V exm715881 8 110492279 [A/G] NM_177531 PKHD1L1 EXON Missense_V3080I exm715882 8 110492328 [A/C] NM_177531 PKHD1L1 EXON Missense_Y3096S exm715883 8 110492348 [C/G] NM_177531 PKHD1L1 EXON Missense_A3103P exm715884 8 110492352 [T/C] NM_177531 PKHD1L1 EXON Missense_T3104I exm715891 8 110493755 [A/C] NM_177531 PKHD1L1 EXON Missense_L3141I exm715893 8 110495263 [A/G] NM_177531 PKHD1L1 EXON Missense_K3169E exm715896 8 110495303 [T/C] NM_177531 PKHD1L1 EXON Missense_V3182A exm715905 8 110498978 [A/G] NM_177531 PKHD1L1 EXON Missense_G3270S exm715907 8 110499005 [T/C] NM_177531 PKHD1L1 EXON Missense_R3279C exm715917 8 110504128 [T/C] NM_177531 PKHD1L1 EXON Nonsense_R3381X exm715919 8 110504158 [A/G] NM_177531 PKHD1L1 EXON Missense_V3391I exm715920 8 110504218 [A/G] NM_177531 PKHD1L1 EXON Missense_I3411V exm715930 8 110505963 [A/G] NM_177531 PKHD1L1 EXON Missense_D3437G exm715945 8 110510782 [C/G] NM_177531 PKHD1L1 EXON Missense_R3564P exm2160837 8 110510904 [T/G] NM_177531 PKHD1L1 EXON Missense_W3578G exm715946 8 110510937 [T/C] NM_177531 PKHD1L1 EXON Missense_P3589S exm715949 8 110510964 [A/C] NM_177531 PKHD1L1 EXON Missense_S3598R exm2160839 8 110510985 [T/C] NM_177531 PKHD1L1 EXON Missense_L3605F exm715953 8 110510993 [A/C] NM_177531 PKHD1L1 EXON Missense_D3607E exm715961 8 110520352 [T/G] NM_177531 PKHD1L1 EXON Missense_Y3752D exm715962 8 110520388 [A/G] NM_177531 PKHD1L1 EXON Missense_M3764V exm715964 8 110520472 [A/G] NM_177531 PKHD1L1 EXON Missense_G3792S exm715966 8 110523018 [A/G] NM_177531 PKHD1L1 EXON Missense_H3803R exm715975 8 110523152 [C/G] NM_177531 PKHD1L1 EXON Missense_D3848H exm2160858 8 110527402 [A/G] NM_177531 PKHD1L1 EXON Missense_V3853I exm715978 8 110527429 [T/C] NM_177531 PKHD1L1 EXON Missense_L3862F exm2160863 8 110530470 [A/C] NM_177531 PKHD1L1 EXON Missense_L3922I exm715983 8 110530479 [A/G] NM_177531 PKHD1L1 EXON Missense_K3925E exm2160865 8 110530525 [T/C] NM_177531 PKHD1L1 EXON Missense_V3940A exm715989 8 110530675 [A/G] NM_177531 PKHD1L1 EXON Missense_G3990E exm715990 8 110530680 [A/G] NM_177531 PKHD1L1 EXON Missense_I3992V exm715993 8 110534523 [T/A] NM_177531 PKHD1L1 EXON Missense_I4047N exm715997 8 110534989 [T/G] NM_177531 PKHD1L1 EXON Missense_V4067G exm716003 8 110535120 [A/G] NM_177531 PKHD1L1 Silent exm716009 8 110535547 [A/G] NM_177531 PKHD1L1 EXON Missense_S4139N exm716010 8 110535565 [T/C] NM_177531 PKHD1L1 EXON Missense_P4145L exm716024 8 110539186 [A/G] NM_177531 PKHD1L1 EXON Missense_V4220I exm716032 8 110566107 [T/C] NM_198120,NM_004215 EBAG9,EBAG9 EXON Missense_R33W,Missense_R33W exm716048 8 110576736 [T/C] NM_198120,NM_004215 EBAG9,EBAG9 EXON Missense_A197V,Missense_A197V exm716051 8 110587148 [T/C] NM_001099751,NM_001099754,NM_001099749,NM_001099743,NM_001099752,NM_001099756,NM_001099746,NM_001099747,NM_001099750,NM_001099744,NM_001099745,NM_001099753,NM_001099748,NM_001099755,NM_017786 SYBU,SYBU,SYBU,SYBU,SYBU,SYBU,SYBU,SYBU,SYBU,SYBU,SYBU,SYBU,SYBU,SYBU,SYBU EXON Missense_R659H,Missense_R660H,Missense_R541H,Missense_R659H,Missense_R660H,Missense_R657H,Missense_R541H,Missense_R659H,Missense_R660H,Missense_R660H,Missense_R660H,Missense_R659H,Missense_R660H,Missense_R541H,Missense_R659H exm716061 8 110587343 [G/C] NM_001099751,NM_001099754,NM_001099749,NM_001099743,NM_001099752,NM_001099756,NM_001099746,NM_001099747,NM_001099750,NM_001099744,NM_001099745,NM_001099753,NM_001099748,NM_001099755,NM_017786 SYBU,SYBU,SYBU,SYBU,SYBU,SYBU,SYBU,SYBU,SYBU,SYBU,SYBU,SYBU,SYBU,SYBU,SYBU EXON Missense_R594P,Missense_R595P,Missense_R476P,Missense_R594P,Missense_R595P,Missense_R592P,Missense_R476P,Missense_R594P,Missense_R595P,Missense_R595P,Missense_R595P,Missense_R594P,Missense_R595P,Missense_R476P,Missense_R594P exm716064 8 110587426 [T/G] NM_001099751,NM_001099754,NM_001099749,NM_001099743,NM_001099752,NM_001099756,NM_001099746,NM_001099747,NM_001099750,NM_001099744,NM_001099745,NM_001099753,NM_001099748,NM_001099755,NM_017786 SYBU,SYBU,SYBU,SYBU,SYBU,SYBU,SYBU,SYBU,SYBU,SYBU,SYBU,SYBU,SYBU,SYBU,SYBU EXON Missense_E566D,Missense_E567D,Missense_E448D,Missense_E566D,Missense_E567D,Missense_E564D,Missense_E448D,Missense_E566D,Missense_E567D,Missense_E567D,Missense_E567D,Missense_E566D,Missense_E567D,Missense_E448D,Missense_E566D exm716071 8 110587580 [A/G] NM_001099751,NM_001099754,NM_001099749,NM_001099743,NM_001099752,NM_001099756,NM_001099746,NM_001099747,NM_001099750,NM_001099744,NM_001099745,NM_001099753,NM_001099748,NM_001099755,NM_017786 SYBU,SYBU,SYBU,SYBU,SYBU,SYBU,SYBU,SYBU,SYBU,SYBU,SYBU,SYBU,SYBU,SYBU,SYBU EXON Missense_S515L,Missense_S516L,Missense_S397L,Missense_S515L,Missense_S516L,Missense_S513L,Missense_S397L,Missense_S515L,Missense_S516L,Missense_S516L,Missense_S516L,Missense_S515L,Missense_S516L,Missense_S397L,Missense_S515L exm716085 8 110587865 [A/G] NM_001099751,NM_001099754,NM_001099749,NM_001099743,NM_001099752,NM_001099756,NM_001099746,NM_001099747,NM_001099750,NM_001099744,NM_001099745,NM_001099753,NM_001099748,NM_001099755,NM_017786 SYBU,SYBU,SYBU,SYBU,SYBU,SYBU,SYBU,SYBU,SYBU,SYBU,SYBU,SYBU,SYBU,SYBU,SYBU EXON Missense_T420M,Missense_T421M,Missense_T302M,Missense_T420M,Missense_T421M,Missense_T418M,Missense_T302M,Missense_T420M,Missense_T421M,Missense_T421M,Missense_T421M,Missense_T420M,Missense_T421M,Missense_T302M,Missense_T420M exm2160893 8 110587910 [C/G] NM_001099751,NM_001099754,NM_001099749,NM_001099743,NM_001099752,NM_001099756,NM_001099746,NM_001099747,NM_001099750,NM_001099744,NM_001099745,NM_001099753,NM_001099748,NM_001099755,NM_017786 SYBU,SYBU,SYBU,SYBU,SYBU,SYBU,SYBU,SYBU,SYBU,SYBU,SYBU,SYBU,SYBU,SYBU,SYBU EXON Missense_P405R,Missense_P406R,Missense_P287R,Missense_P405R,Missense_P406R,Missense_P403R,Missense_P287R,Missense_P405R,Missense_P406R,Missense_P406R,Missense_P406R,Missense_P405R,Missense_P406R,Missense_P287R,Missense_P405R exm716090 8 110588094 [A/G] NM_001099751,NM_001099754,NM_001099749,NM_001099743,NM_001099752,NM_001099756,NM_001099746,NM_001099747,NM_001099750,NM_001099744,NM_001099745,NM_001099753,NM_001099748,NM_001099755,NM_017786 SYBU,SYBU,SYBU,SYBU,SYBU,SYBU,SYBU,SYBU,SYBU,SYBU,SYBU,SYBU,SYBU,SYBU,SYBU EXON Missense_R344W,Missense_R345W,Missense_R226W,Missense_R344W,Missense_R345W,Missense_R342W,Missense_R226W,Missense_R344W,Missense_R345W,Missense_R345W,Missense_R345W,Missense_R344W,Missense_R345W,Missense_R226W,Missense_R344W exm716100 8 110590221 [T/C] NM_001099751,NM_001099754,NM_001099749,NM_001099743,NM_001099752,NM_001099756,NM_001099746,NM_001099747,NM_001099750,NM_001099744,NM_001099745,NM_001099753,NM_001099748,NM_001099755,NM_017786 SYBU,SYBU,SYBU,SYBU,SYBU,SYBU,SYBU,SYBU,SYBU,SYBU,SYBU,SYBU,SYBU,SYBU,SYBU EXON Missense_G253S,Missense_G254S,Missense_G135S,Missense_G253S,Missense_G254S,Missense_G251S,Missense_G135S,Missense_G253S,Missense_G254S,Missense_G254S,Missense_G254S,Missense_G253S,Missense_G254S,Missense_G135S,Missense_G253S exm716103 8 110592092 [T/G] NM_001099751,NM_001099754,NM_001099749,NM_001099743,NM_001099752,NM_001099756,NM_001099746,NM_001099747,NM_001099750,NM_001099744,NM_001099745,NM_001099753,NM_001099748,NM_001099755,NM_017786 SYBU,SYBU,SYBU,SYBU,SYBU,SYBU,SYBU,SYBU,SYBU,SYBU,SYBU,SYBU,SYBU,SYBU,SYBU EXON Missense_P223T,Missense_P224T,Missense_P105T,Missense_P223T,Missense_P224T,Missense_P221T,Missense_P105T,Missense_P223T,Missense_P224T,Missense_P224T,Missense_P224T,Missense_P223T,Missense_P224T,Missense_P105T,Missense_P223T exm716105 8 110592151 [A/G] NM_001099751,NM_001099754,NM_001099749,NM_001099743,NM_001099752,NM_001099756,NM_001099746,NM_001099747,NM_001099750,NM_001099744,NM_001099745,NM_001099753,NM_001099748,NM_001099755,NM_017786 SYBU,SYBU,SYBU,SYBU,SYBU,SYBU,SYBU,SYBU,SYBU,SYBU,SYBU,SYBU,SYBU,SYBU,SYBU EXON Missense_L203P,Missense_L204P,Missense_L85P,Missense_L203P,Missense_L204P,Missense_L201P,Missense_L85P,Missense_L203P,Missense_L204P,Missense_L204P,Missense_L204P,Missense_L203P,Missense_L204P,Missense_L85P,Missense_L203P exm716114 8 110598320 [T/C] NM_001099751,NM_001099754,NM_001099749,NM_001099743,NM_001099752,NM_001099756,NM_001099746,NM_001099747,NM_001099750,NM_001099744,NM_001099745,NM_001099753,NM_001099748,NM_001099755,NM_017786 SYBU,SYBU,SYBU,SYBU,SYBU,SYBU,SYBU,SYBU,SYBU,SYBU,SYBU,SYBU,SYBU,SYBU,SYBU EXON Missense_A166T,Missense_A167T,Missense_A48T,Missense_A166T,Missense_A167T,Missense_A164T,Missense_A48T,Missense_A166T,Missense_A167T,Missense_A167T,Missense_A167T,Missense_A166T,Missense_A167T,Missense_A48T,Missense_A166T exm716119 8 110631074 [G/C] NM_001099751,NM_001099754,NM_001099749,NM_001099743,NM_001099752,NM_001099756,NM_001099746,NM_001099747,NM_001099750,NM_001099744,NM_001099745,NM_001099753,NM_001099748,NM_001099755,NM_017786 SYBU,SYBU,SYBU,SYBU,SYBU,SYBU,SYBU,SYBU,SYBU,SYBU,SYBU,SYBU,SYBU,SYBU,SYBU EXON Missense_P141A,Missense_P142A,Missense_P23A,Missense_P141A,Missense_P142A,Missense_P139A,Missense_P23A,Missense_P141A,Missense_P142A,Missense_P142A,Missense_P142A,Missense_P141A,Missense_P142A,Missense_P23A,Missense_P141A exm716129 8 110655089 [A/G] NM_001099751,NM_001099754,NM_001099749,NM_001099743,NM_001099752,NM_001099756,NM_001099746,NM_001099747,NM_001099750,NM_001099744,NM_001099745,NM_001099753,NM_001099748,NM_001099755,NM_017786 SYBU,SYBU,SYBU,SYBU,SYBU,SYBU,SYBU,SYBU,SYBU,SYBU,SYBU,SYBU,SYBU,SYBU,SYBU EXON Missense_H32Y,Missense_H33Y,Silent,Missense_H32Y,Missense_H33Y,Missense_H30Y,Silent,Missense_H32Y,Missense_H33Y,Missense_H33Y,Missense_H33Y,Missense_H32Y,Missense_H33Y,Silent,Missense_H32Y exm2258591 8 110888220 [T/C] exm2266674 8 111285009 [A/G] exm2266756 8 111438655 [A/G] exm2266675 8 111826826 [A/G] exm-rs9297447 8 112515260 [A/G] exm2258597 8 112819969 [A/G] exm2266758 8 113146748 [A/G] exm716187 8 113241021 [A/G] NM_052900,NM_198124,NM_198123 CSMD3,CSMD3,CSMD3 EXON Missense_I3474T,Missense_I3603T,Missense_I3643T exm716189 8 113241088 [T/G] NM_052900,NM_198124,NM_198123 CSMD3,CSMD3,CSMD3 EXON Missense_N3452H,Missense_N3581H,Missense_N3621H exm2258598 8 113246660 [A/G] NM_052900,NM_198124,NM_198123 CSMD3,CSMD3,CSMD3 EXON Synonymous_L3389L,Synonymous_L3518L,Synonymous_L3558L exm716209 8 113253954 [A/G] NM_052900,NM_198124,NM_198123 CSMD3,CSMD3,CSMD3 EXON Missense_L3319P,Missense_L3448P,Missense_L3488P exm716214 8 113256708 [A/C] NM_052900,NM_198124,NM_198123 CSMD3,CSMD3,CSMD3 EXON Missense_Q3270H,Missense_Q3399H,Missense_Q3439H exm716216 8 113256748 [A/T] NM_052900,NM_198124,NM_198123 CSMD3,CSMD3,CSMD3 EXON Missense_D3257V,Missense_D3386V,Missense_D3426V exm716218 8 113256772 [A/G] NM_052900,NM_198124,NM_198123 CSMD3,CSMD3,CSMD3 EXON Missense_A3249V,Missense_A3378V,Missense_A3418V exm716222 8 113259329 [T/G] NM_052900,NM_198124,NM_198123 CSMD3,CSMD3,CSMD3 EXON Missense_K3212T,Missense_K3341T,Missense_K3381T exm716237 8 113275868 [A/G] NM_052900,NM_198124,NM_198123 CSMD3,CSMD3,CSMD3 EXON Missense_P3119S,Missense_P3248S,Missense_P3288S exm716245 8 113276030 [A/G] NM_052900,NM_198124,NM_198123 CSMD3,CSMD3,CSMD3 EXON Missense_P3065S,Missense_P3194S,Missense_P3234S exm716248 8 113277705 [T/A] NM_052900,NM_198124,NM_198123 CSMD3,CSMD3,CSMD3 EXON Missense_N3039I,Missense_N3168I,Missense_N3208I exm716249 8 113277717 [A/G] NM_052900,NM_198124,NM_198123 CSMD3,CSMD3,CSMD3 EXON Missense_T3035M,Missense_T3164M,Missense_T3204M exm716265 8 113299353 [A/G] NM_052900,NM_198124,NM_198123 CSMD3,CSMD3,CSMD3 EXON Missense_S2922P,Missense_S3051P,Missense_S3091P exm716273 8 113301668 [T/C] NM_052900,NM_198124,NM_198123 CSMD3,CSMD3,CSMD3 EXON Missense_R2856H,Missense_R2985H,Missense_R3025H exm716282 8 113303799 [A/G] NM_052900,NM_198124,NM_198123 CSMD3,CSMD3,CSMD3 EXON Missense_S2803P,Missense_S2932P,Missense_S2972P exm716299 8 113308175 [T/C] NM_052900,NM_198124,NM_198123 CSMD3,CSMD3,CSMD3 EXON Missense_G2665E,Missense_G2794E,Missense_G2834E exm716308 8 113317026 [A/C] NM_052900,NM_198124,NM_198123 CSMD3,CSMD3,CSMD3 EXON Silent,Missense_H2690Q,Missense_H2730Q exm716329 8 113326269 [T/C] NM_052900,NM_198124,NM_198123 CSMD3,CSMD3,CSMD3 EXON Missense_Q2417R,Missense_Q2481R,Missense_Q2521R exm716331 8 113326701 [T/G] NM_052900,NM_198124,NM_198123 CSMD3,CSMD3,CSMD3 EXON Missense_F2398L,Missense_F2462L,Missense_F2502L exm716338 8 113331092 [A/G] NM_052900,NM_198124,NM_198123 CSMD3,CSMD3,CSMD3 EXON Missense_M2341T,Missense_M2405T,Missense_M2445T exm716342 8 113331119 [A/G] NM_052900,NM_198124,NM_198123 CSMD3,CSMD3,CSMD3 EXON Missense_T2332M,Missense_T2396M,Missense_T2436M exm716345 8 113347559 [A/G] NM_052900,NM_198124,NM_198123 CSMD3,CSMD3,CSMD3 EXON Synonymous_H2284H,Synonymous_H2348H,Synonymous_H2388H exm2161089 8 113349885 [T/C] NM_052900,NM_198124,NM_198123 CSMD3,CSMD3,CSMD3 EXON Missense_G2139D,Missense_G2203D,Missense_G2243D exm716378 8 113353855 [T/C] NM_052900,NM_198124,NM_198123 CSMD3,CSMD3,CSMD3 EXON Missense_R2064Q,Missense_R2128Q,Missense_R2168Q exm716397 8 113364697 [T/C] NM_052900,NM_198124,NM_198123 CSMD3,CSMD3,CSMD3 EXON Missense_Y1964C,Missense_Y2028C,Missense_Y2068C exm716413 8 113418822 [T/C] NM_052900,NM_198124,NM_198123 CSMD3,CSMD3,CSMD3 EXON Missense_I1810V,Missense_I1874V,Missense_I1914V exm716417 8 113418873 [T/C] NM_052900,NM_198124,NM_198123 CSMD3,CSMD3,CSMD3 EXON Missense_G1793S,Missense_G1857S,Missense_G1897S exm716422 8 113418955 [A/G] NM_052900,NM_198124,NM_198123 CSMD3,CSMD3,CSMD3 EXON Synonymous_A1765A,Synonymous_A1829A,Synonymous_A1869A exm716423 8 113420588 [A/G] NM_052900,NM_198124,NM_198123 CSMD3,CSMD3,CSMD3 EXON Missense_V1751A,Missense_V1815A,Missense_V1855A exm2161105 8 113420604 [T/C] NM_052900,NM_198124,NM_198123 CSMD3,CSMD3,CSMD3 EXON Missense_I1746V,Missense_I1810V,Missense_I1850V exm2258600 8 113470948 [A/G] NM_052900,NM_198124,NM_198123 CSMD3,CSMD3,CSMD3 Silent,Silent,Silent exm716433 8 113484935 [T/C] NM_052900,NM_198124,NM_198123 CSMD3,CSMD3,CSMD3 EXON Synonymous_A1656A,Synonymous_A1720A,Synonymous_A1760A exm716437 8 113504760 [T/C] NM_052900,NM_198124,NM_198123 CSMD3,CSMD3,CSMD3 EXON Missense_D1642N,Missense_D1706N,Missense_D1746N exm716439 8 113504810 [A/G] NM_052900,NM_198124,NM_198123 CSMD3,CSMD3,CSMD3 EXON Missense_A1625V,Missense_A1689V,Missense_A1729V exm716447 8 113516174 [T/C] NM_052900,NM_198124,NM_198123 CSMD3,CSMD3,CSMD3 EXON Missense_Y1539C,Missense_Y1603C,Missense_Y1643C exm716467 8 113529433 [T/C] NM_052900,NM_198124,NM_198123 CSMD3,CSMD3,CSMD3 EXON Missense_R1425H,Missense_R1489H,Missense_R1529H exm716472 8 113563027 [A/C] NM_052900,NM_198124,NM_198123 CSMD3,CSMD3,CSMD3 EXON Missense_D1375E,Missense_D1439E,Missense_D1479E exm716475 8 113563079 [A/G] NM_052900,NM_198124,NM_198123 CSMD3,CSMD3,CSMD3 EXON Missense_T1358M,Missense_T1422M,Missense_T1462M exm716478 8 113564859 [A/G] NM_052900,NM_198124,NM_198123 CSMD3,CSMD3,CSMD3 EXON Missense_M1338T,Missense_M1402T,Missense_M1442T exm716484 8 113564934 [T/C] NM_052900,NM_198124,NM_198123 CSMD3,CSMD3,CSMD3 EXON Missense_R1313H,Missense_R1377H,Missense_R1417H exm716505 8 113649078 [T/C] NM_052900,NM_198124,NM_198123 CSMD3,CSMD3,CSMD3 EXON Missense_R1124Q,Missense_R1188Q,Missense_R1228Q exm716509 8 113650933 [A/G] NM_052900,NM_198124,NM_198123 CSMD3,CSMD3,CSMD3 EXON Missense_T1069I,Missense_T1133I,Missense_T1173I exm716513 8 113651047 [T/C] NM_052900,NM_198124,NM_198123 CSMD3,CSMD3,CSMD3 EXON Missense_R1031H,Missense_R1095H,Missense_R1135H exm716527 8 113662524 [T/C] NM_052900,NM_198124,NM_198123 CSMD3,CSMD3,CSMD3 EXON Missense_R916H,Missense_R980H,Missense_R1020H exm716535 8 113668398 [T/C] NM_052900,NM_198124,NM_198123 CSMD3,CSMD3,CSMD3 EXON Missense_K893E,Missense_K957E,Missense_K997E exm716541 8 113668545 [T/C] NM_052900,NM_198124,NM_198123 CSMD3,CSMD3,CSMD3 EXON Missense_V844I,Missense_V908I,Missense_V948I exm716545 8 113678603 [G/C] NM_052900,NM_198124,NM_198123 CSMD3,CSMD3,CSMD3 EXON Missense_L803V,Missense_L867V,Missense_L907V exm716547 8 113694722 [T/C] NM_052900,NM_198124,NM_198123 CSMD3,CSMD3,CSMD3 EXON Missense_I772V,Missense_I836V,Missense_I876V exm716566 8 113702099 [T/A] NM_052900,NM_198124,NM_198123 CSMD3,CSMD3,CSMD3 EXON Missense_I614N,Missense_I678N,Missense_I718N exm716570 8 113702204 [T/C] NM_052900,NM_198124,NM_198123 CSMD3,CSMD3,CSMD3 EXON Missense_R579H,Missense_R643H,Missense_R683H exm716572 8 113702220 [T/C] NM_052900,NM_198124,NM_198123 CSMD3,CSMD3,CSMD3 EXON Missense_D574N,Missense_D638N,Missense_D678N exm716582 8 113871381 [A/G] NM_052900,NM_198124,NM_198123 CSMD3,CSMD3,CSMD3 EXON Missense_T479I,Missense_T543I,Missense_T583I exm716594 8 113960025 [T/C] NM_052900,NM_198124,NM_198123 CSMD3,CSMD3,CSMD3 EXON Missense_D397G,Missense_D461G,Missense_D501G exm716596 8 113960037 [A/C] NM_052900,NM_198124,NM_198123 CSMD3,CSMD3,CSMD3 EXON Missense_R393I,Missense_R457I,Missense_R497I exm716606 8 113988161 [A/G] NM_052900,NM_198124,NM_198123 CSMD3,CSMD3,CSMD3 EXON Silent,Missense_S376F,Missense_S416F exm716613 8 113988320 [C/G] NM_052900,NM_198124,NM_198123 CSMD3,CSMD3,CSMD3 EXON Silent,Missense_T323S,Missense_T363S exm716622 8 114111156 [T/C] NM_052900,NM_198124,NM_198123 CSMD3,CSMD3,CSMD3 EXON Missense_S249N,Missense_S209N,Missense_S249N exm2266759 8 114141450 [A/G] NM_052900,NM_198124,NM_198123 CSMD3,CSMD3,CSMD3 Silent,Silent,Silent exm2266679 8 114154128 [A/G] NM_052900,NM_198124,NM_198123 CSMD3,CSMD3,CSMD3 Silent,Silent,Silent exm716627 8 114186003 [T/C] NM_052900,NM_198124,NM_198123 CSMD3,CSMD3,CSMD3 EXON Missense_I219M,Missense_I179M,Missense_I219M exm716630 8 114186085 [A/G] NM_052900,NM_198124,NM_198123 CSMD3,CSMD3,CSMD3 EXON Missense_T192I,Missense_T152I,Missense_T192I exm716633 8 114290833 [T/C] NM_052900,NM_198124,NM_198123 CSMD3,CSMD3,CSMD3 EXON Missense_V168I,Missense_V128I,Missense_V168I exm716641 8 114326813 [T/C] NM_052900,NM_198124,NM_198123 CSMD3,CSMD3,CSMD3 EXON Missense_N130D,Missense_N90D,Missense_N130D exm-rs1382469 8 114363347 [A/G] NM_052900,NM_198124,NM_198123 CSMD3,CSMD3,CSMD3 Silent,Silent,Silent exm716655 8 114389003 [T/A] NM_052900,NM_198124,NM_198123 CSMD3,CSMD3,CSMD3 EXON Silent,Missense_W8R,Silent exm716665 8 114449037 [A/G] NM_052900,NM_198123 CSMD3,CSMD3 EXON Missense_P16L,Missense_P16L exm716666 8 114449045 [T/A] NM_052900,NM_198123 CSMD3,CSMD3 EXON Missense_E13D,Missense_E13D exm2270909 8 114763795 [T/G] exm-rs2137124 8 114930114 [T/C] exm2266680 8 114965243 [A/G] exm2264322 8 115213656 [A/C] exm-rs7017679 8 115758712 [A/G] exm2266681 8 116274942 [A/G] exm2262409 8 116299233 [A/G] exm-rs17658378 8 116394075 [A/G] exm2161295 8 116426379 [T/C] NM_014112 TRPS1 EXON Missense_S1253G exm716679 8 116426736 [T/C] NM_014112 TRPS1 EXON Missense_V1134I exm716683 8 116426808 [A/G] NM_014112 TRPS1 EXON Missense_L1110F exm2161302 8 116426988 [A/T] NM_014112 TRPS1 EXON Missense_I1050F exm716691 8 116427121 [G/C] NM_014112 TRPS1 EXON Missense_H1005Q exm-rs2293889 8 116599199 [T/G] NM_014112 TRPS1 Silent exm716705 8 116599271 [A/G] NM_014112 TRPS1 EXON Missense_S886L exm716713 8 116599394 [T/C] NM_014112 TRPS1 EXON Missense_N845S exm2246361 8 116599443 [C/G] NM_014112 TRPS1 EXON Missense_P829A exm2161316 8 116599487 [A/C] NM_014112 TRPS1 EXON Missense_R814L exm716724 8 116616109 [T/C] NM_014112 TRPS1 EXON Missense_R696Q exm716740 8 116616652 [A/G] NM_014112 TRPS1 EXON Missense_S515L exm716742 8 116616740 [T/C] NM_014112 TRPS1 EXON Missense_D486N exm716754 8 116617001 [A/G] NM_014112 TRPS1 EXON Missense_L399F exm716777 8 116631660 [T/C] NM_014112 TRPS1 EXON Missense_N222S exm2161333 8 116631783 [T/C] NM_014112 TRPS1 EXON Missense_Q181R exm716782 8 116631903 [A/G] NM_014112 TRPS1 EXON Missense_P141L exm716786 8 116631970 [A/T] NM_014112 TRPS1 EXON Missense_T119S exm716788 8 116632015 [A/G] NM_014112 TRPS1 EXON Missense_P104S exm716794 8 116632155 [T/C] NM_014112 TRPS1 EXON Missense_E57G exm-rs2737229 8 116648565 [A/C] NM_014112 TRPS1 Silent exm2271008 8 116822267 [T/C] exm2270911 8 117129410 [T/C] NR_046215 LINC00536 Silent exm-rs799889 8 117250895 [T/G] NR_046215 LINC00536 Silent exm2258609 8 117467008 [A/G] exm-rs4876662 8 117556270 [A/G] exm-rs16892766 8 117630683 [A/C] exm2262411 8 117648454 [T/G] exm716810 8 117658742 [A/G] NM_003756 EIF3H EXON Missense_P310L exm716811 8 117658748 [A/G] NM_003756 EIF3H EXON Missense_P308L exm716812 8 117658787 [A/G] NM_003756 EIF3H EXON Missense_P295L exm716851 8 117778979 [C/G] NM_032334 UTP23 EXON Missense_R46P exm716866 8 117783840 [A/G] NM_032334 UTP23 EXON Missense_H170R exm716873 8 117783914 [A/C] NM_032334 UTP23 EXON Missense_K195Q exm716877 8 117783975 [T/C] NM_032334 UTP23 EXON Missense_P215L exm716883 8 117784008 [A/G] NM_032334 UTP23 EXON Missense_R226K exm716884 8 117784014 [A/G] NM_032334 UTP23 EXON Missense_R228K exm716893 8 117859924 [A/G] NM_006265 RAD21 EXON Missense_L571F exm716897 8 117861258 [A/G] NM_006265 RAD21 EXON Missense_A544V exm716901 8 117862898 [T/C] NM_006265 RAD21 EXON Missense_K527E exm2258610 8 117864217 [A/G] NM_006265 RAD21 EXON Synonymous_A480A exm716913 8 117864305 [A/C] NM_006265 RAD21 EXON Missense_L451R exm716916 8 117864867 [A/C] NM_006265 RAD21 EXON Missense_D414E exm2258611 8 117864872 [A/G] NM_006265 RAD21 EXON Synonymous_L413L exm716928 8 117868483 [T/C] NM_006265 RAD21 EXON Missense_M287V exm716958 8 117879001 [T/C] NM_006265 RAD21 Silent exm2258612 8 117950524 [T/C] NM_001025357 AARD EXON Synonymous_S14S exm2258613 8 117950611 [A/G] NM_001025357 AARD EXON Synonymous_T43T exm716985 8 117954810 [T/C] NM_001025357 AARD EXON Missense_F113S exm2264303 8 117960147 [A/C] exm717005 8 118159193 [T/C] NM_001172811,NM_001172815,NM_001172813,NM_001172814,NM_173851 SLC30A8,SLC30A8,SLC30A8,SLC30A8,SLC30A8 EXON Silent,Silent,Silent,Silent,Synonymous_S24S exm717007 8 118159230 [T/C] NM_001172811,NM_001172815,NM_001172813,NM_001172814,NM_173851 SLC30A8,SLC30A8,SLC30A8,SLC30A8,SLC30A8 EXON Silent,Silent,Silent,Silent,Missense_C37R exm717008 8 118159253 [T/G] NM_001172811,NM_001172815,NM_001172813,NM_001172814,NM_173851 SLC30A8,SLC30A8,SLC30A8,SLC30A8,SLC30A8 EXON Silent,Silent,Silent,Silent,Missense_E44D exm717009 8 118159254 [A/C] NM_001172811,NM_001172815,NM_001172813,NM_001172814,NM_173851 SLC30A8,SLC30A8,SLC30A8,SLC30A8,SLC30A8 EXON Silent,Silent,Silent,Silent,Missense_L45M exm717012 8 118159309 [A/G] NM_001172811,NM_001172815,NM_001172813,NM_001172814,NM_173851 SLC30A8,SLC30A8,SLC30A8,SLC30A8,SLC30A8 EXON Missense_G14E,Missense_G14E,Missense_G14E,Missense_G14E,Missense_G63E exm717014 8 118159323 [A/G] NM_001172811,NM_001172815,NM_001172813,NM_001172814,NM_173851 SLC30A8,SLC30A8,SLC30A8,SLC30A8,SLC30A8 EXON Missense_A19T,Missense_A19T,Missense_A19T,Missense_A19T,Missense_A68T exm2258615 8 118165247 [G/C] NM_001172811,NM_001172815,NM_001172813,NM_001172814,NM_173851 SLC30A8,SLC30A8,SLC30A8,SLC30A8,SLC30A8 EXON Synonymous_T63T,Synonymous_T63T,Synonymous_T63T,Synonymous_T63T,Synonymous_T112T exm717024 8 118165294 [T/C] NM_001172811,NM_001172815,NM_001172813,NM_001172814,NM_173851 SLC30A8,SLC30A8,SLC30A8,SLC30A8,SLC30A8 EXON Missense_P79L,Missense_P79L,Missense_P79L,Missense_P79L,Missense_P128L exm717026 8 118165323 [T/C] NM_001172811,NM_001172815,NM_001172813,NM_001172814,NM_173851 SLC30A8,SLC30A8,SLC30A8,SLC30A8,SLC30A8 EXON Nonsense_R89X,Nonsense_R89X,Nonsense_R89X,Nonsense_R89X,Nonsense_R138X exm717031 8 118170004 [T/C] NM_001172811,NM_001172815,NM_001172813,NM_001172814,NM_173851 SLC30A8,SLC30A8,SLC30A8,SLC30A8,SLC30A8 EXON Missense_R116C,Missense_R116C,Missense_R116C,Missense_R116C,Missense_R165C exm717036 8 118170073 [T/G] NM_001172811,NM_001172815,NM_001172813,NM_001172814,NM_173851 SLC30A8,SLC30A8,SLC30A8,SLC30A8,SLC30A8 EXON Missense_A139S,Missense_A139S,Missense_A139S,Missense_A139S,Missense_A188S exm717037 8 118174044 [A/G] NM_001172811,NM_001172815,NM_001172813,NM_001172814,NM_173851 SLC30A8,SLC30A8,SLC30A8,SLC30A8,SLC30A8 EXON Missense_V165I,Missense_V165I,Missense_V165I,Missense_V165I,Missense_V214I exm717038 8 118174050 [A/G] NM_001172811,NM_001172815,NM_001172813,NM_001172814,NM_173851 SLC30A8,SLC30A8,SLC30A8,SLC30A8,SLC30A8 EXON Missense_A167T,Missense_A167T,Missense_A167T,Missense_A167T,Missense_A216T exm717044 8 118175769 [A/G] NM_001172811,NM_001172815,NM_001172813,NM_001172814,NM_173851 SLC30A8,SLC30A8,SLC30A8,SLC30A8,SLC30A8 EXON Missense_G228S,Missense_G228S,Missense_G228S,Missense_G228S,Missense_G277S exm2258616 8 118175771 [T/G] NM_001172811,NM_001172815,NM_001172813,NM_001172814,NM_173851 SLC30A8,SLC30A8,SLC30A8,SLC30A8,SLC30A8 Silent,Silent,Silent,Silent,Silent exm717047 8 118183328 [A/C] NM_001172811,NM_001172815,NM_001172813,NM_001172814,NM_173851 SLC30A8,SLC30A8,SLC30A8,SLC30A8,SLC30A8 EXON Missense_D246E,Missense_D246E,Missense_D246E,Missense_D246E,Missense_D295E exm717048 8 118183329 [A/G] NM_001172811,NM_001172815,NM_001172813,NM_001172814,NM_173851 SLC30A8,SLC30A8,SLC30A8,SLC30A8,SLC30A8 EXON Missense_G247R,Missense_G247R,Missense_G247R,Missense_G247R,Missense_G296R exm-rs2464592 8 118183551 [A/G] NM_001172811,NM_001172815,NM_001172813,NM_001172814,NM_173851 SLC30A8,SLC30A8,SLC30A8,SLC30A8,SLC30A8 Silent,Silent,Silent,Silent,Silent exm717053 8 118184783 [T/C] NM_001172811,NM_001172815,NM_001172813,NM_001172814,NM_173851 SLC30A8,SLC30A8,SLC30A8,SLC30A8,SLC30A8 EXON Missense_R276W,Missense_R276W,Missense_R276W,Missense_R276W,Missense_R325W exm717054 8 118184784 [A/G] NM_001172811,NM_001172815,NM_001172813,NM_001172814,NM_173851 SLC30A8,SLC30A8,SLC30A8,SLC30A8,SLC30A8 EXON Missense_R276Q,Missense_R276Q,Missense_R276Q,Missense_R276Q,Missense_R325Q exm717060 8 118184886 [T/C] NM_001172811,NM_001172815,NM_001172813,NM_001172814,NM_173851 SLC30A8,SLC30A8,SLC30A8,SLC30A8,SLC30A8 EXON Missense_P310L,Missense_P310L,Missense_P310L,Missense_P310L,Missense_P359L exm-rs3802177 8 118185025 [A/G] NM_001172811,NM_001172815,NM_001172813,NM_001172814,NM_173851 SLC30A8,SLC30A8,SLC30A8,SLC30A8,SLC30A8 EXON Silent,Silent,Silent,Silent,Silent exm-rs11558471 8 118185733 [A/G] NM_001172811,NM_001172815,NM_001172813,NM_001172814,NM_173851 SLC30A8,SLC30A8,SLC30A8,SLC30A8,SLC30A8 EXON Silent,Silent,Silent,Silent,Silent exm2270912 8 118296603 [T/C] exm2271010 8 118320851 [T/C] exm717087 8 118543022 [T/C] NM_080651 MED30 EXON Missense_R133C exm717089 8 118543033 [T/A] NM_080651 MED30 EXON Missense_S136R exm-rs11989122 8 118827839 [A/G] NM_000127 EXT1 Silent exm717118 8 118830697 [T/C] NM_000127 EXT1 EXON Missense_V537I exm2246380 8 118831994 [A/G] NM_000127 EXT1 EXON Missense_A486V exm717135 8 118834802 [T/C] NM_000127 EXT1 EXON Missense_R440H exm2161581 8 118847730 [T/C] NM_000127 EXT1 EXON Missense_N373D exm717147 8 118847781 [T/C] NM_000127 EXT1 EXON Missense_V356I exm717153 8 118849440 [T/C] NM_000127 EXT1 EXON Synonymous_K321K exm2270913 8 118853829 [T/C] NM_000127 EXT1 Silent exm717167 8 119123072 [T/C] NM_000127 EXT1 EXON Missense_E72K exm2258619 8 119157032 [A/G] exm2271011 8 119179057 [T/C] exm717184 8 119391678 [A/G] NM_001101676,NM_207506 SAMD12,SAMD12 EXON Silent,Missense_I195T exm717196 8 119391888 [G/C] NM_001101676,NM_207506 SAMD12,SAMD12 EXON Missense_A125G,Missense_A125G exm717199 8 119452073 [A/G] NM_001101676,NM_207506 SAMD12,SAMD12 EXON Missense_T107I,Missense_T107I exm717208 8 119592961 [A/G] NM_001101676,NM_207506 SAMD12,SAMD12 EXON Missense_T62M,Missense_T62M exm717212 8 119593076 [T/C] NM_001101676,NM_207506 SAMD12,SAMD12 EXON Missense_I24V,Missense_I24V exm2264323 8 119691074 [A/C] NR_038210 SAMD12-AS1 Silent exm2266685 8 119769036 [A/G] exm-rs4355801 8 119923873 [A/G] exm717225 8 119936717 [T/A] NM_002546 TNFRSF11B EXON Missense_T368S exm717230 8 119936978 [T/C] NM_002546 TNFRSF11B EXON Missense_V281M exm717237 8 119938850 [T/C] NM_002546 TNFRSF11B EXON Missense_A234T exm717250 8 119941108 [A/G] NM_002546 TNFRSF11B EXON Missense_T154M exm717260 8 119945260 [T/C] NM_002546 TNFRSF11B EXON Missense_V104M exm717266 8 119945383 [T/C] NM_002546 TNFRSF11B EXON Missense_A63T exm2161624 8 119945473 [C/G] NM_002546 TNFRSF11B EXON Missense_E33Q exm717274 8 119945511 [A/G] NM_002546 TNFRSF11B EXON Missense_T20I exm717279 8 119964052 [G/C] NM_002546 TNFRSF11B EXON Missense_N3K exm-rs2062375 8 119977792 [G/C] exm2266686 8 119999531 [A/G] exm-rs2062377 8 120007420 [T/A] exm-rs11995824 8 120012700 [C/G] exm-rs6469804 8 120044829 [A/G] exm-rs6993813 8 120052238 [T/C] exm717288 8 120079618 [A/G] NM_006438 COLEC10 EXON Missense_R33H exm717303 8 120114605 [T/G] NM_006438 COLEC10 EXON Missense_G104V exm717307 8 120116042 [T/C] NM_006438 COLEC10 EXON Missense_T117I exm717308 8 120116065 [T/C] NM_006438 COLEC10 EXON Missense_R125W exm717311 8 120116101 [T/C] NM_006438 COLEC10 EXON Missense_R137W exm717312 8 120116102 [A/G] NM_006438 COLEC10 EXON Missense_R137Q exm717317 8 120118131 [T/C] NM_006438 COLEC10 EXON Missense_R179W exm717328 8 120118421 [T/G] NM_006438 COLEC10 EXON Missense_K275N exm-rs1364705 8 120224806 [A/G] NM_052886 MAL2 Silent exm717337 8 120233910 [T/C] NM_052886 MAL2 EXON Synonymous_S72S exm717340 8 120233968 [A/G] NM_052886 MAL2 EXON Missense_A92T exm717342 8 120252456 [T/C] NM_052886 MAL2 EXON Synonymous_L119L exm717344 8 120252509 [T/C] NM_052886 MAL2 EXON Synonymous_T136T exm-rs2469997 8 120353267 [G/C] exm717353 8 120428792 [A/C] NM_002514 NOV EXON Missense_T7K exm717354 8 120428816 [T/G] NM_002514 NOV EXON Missense_C15F exm717365 8 120429190 [A/C] NM_002514 NOV EXON Missense_N97K exm717367 8 120430298 [T/C] NM_002514 NOV EXON Missense_A104V exm717371 8 120430348 [G/C] NM_002514 NOV EXON Missense_E121Q exm717372 8 120430432 [G/C] NM_002514 NOV EXON Missense_L149V exm717375 8 120430496 [A/G] NM_002514 NOV EXON Missense_K170R exm717382 8 120431506 [A/G] NM_002514 NOV EXON Missense_R233H exm717388 8 120435194 [A/G] NM_002514 NOV EXON Missense_R299H exm717390 8 120435251 [A/G] NM_002514 NOV EXON Missense_G318E exm717400 8 120569823 [A/G] NR_045555,NM_001130863,NM_001040092,NM_006209 ENPP2,ENPP2,ENPP2,ENPP2 EXON Silent,Missense_R869C,Missense_R844C,Missense_R896C exm717419 8 120575249 [T/C] NR_045555,NM_001130863,NM_001040092,NM_006209 ENPP2,ENPP2,ENPP2,ENPP2 EXON Silent,Missense_V782M,Missense_V757M,Missense_V809M exm717425 8 120577150 [A/G] NR_045555,NM_001130863,NM_001040092,NM_006209 ENPP2,ENPP2,ENPP2,ENPP2 EXON Silent,Missense_S751L,Missense_S726L,Missense_S778L exm717436 8 120581603 [A/G] NR_045555,NM_001130863,NM_001040092,NM_006209 ENPP2,ENPP2,ENPP2,ENPP2 EXON Silent,Missense_V667A,Missense_V642A,Missense_V694A exm717444 8 120583076 [A/G] NR_045555,NM_001130863,NM_001040092,NM_006209 ENPP2,ENPP2,ENPP2,ENPP2 EXON Silent,Missense_H621Y,Missense_H596Y,Missense_H648Y exm717450 8 120592383 [A/G] NR_045555,NM_001130863,NM_001040092,NM_006209 ENPP2,ENPP2,ENPP2,ENPP2 EXON Silent,Missense_R585W,Missense_R585W,Missense_R637W exm2161726 8 120592406 [T/C] NR_045555,NM_001130863,NM_001040092,NM_006209 ENPP2,ENPP2,ENPP2,ENPP2 EXON Silent,Missense_N577S,Missense_N577S,Missense_N629S exm717460 8 120594780 [A/G] NR_045555,NM_001130863,NM_001040092,NM_006209 ENPP2,ENPP2,ENPP2,ENPP2 EXON Silent,Missense_R536C,Missense_R536C,Missense_R588C exm717473 8 120598477 [T/C] NR_045555,NM_001130863,NM_001040092,NM_006209 ENPP2,ENPP2,ENPP2,ENPP2 EXON Silent,Missense_R439K,Missense_R439K,Missense_R491K exm717475 8 120599285 [A/G] NR_045555,NM_001130863,NM_001040092,NM_006209 ENPP2,ENPP2,ENPP2,ENPP2 EXON Silent,Missense_T413M,Missense_T413M,Missense_T465M exm2276027 8 120599311 [A/G] NR_045555,NM_001130863,NM_001040092,NM_006209 ENPP2,ENPP2,ENPP2,ENPP2 EXON Silent,Synonymous_D404D,Synonymous_D404D,Synonymous_D456D exm717487 8 120608097 [T/C] NM_001130863,NM_001040092,NM_006209 ENPP2,ENPP2,ENPP2 EXON Silent,Silent,Missense_R373H exm717488 8 120608106 [A/G] NM_001130863,NM_001040092,NM_006209 ENPP2,ENPP2,ENPP2 EXON Silent,Silent,Missense_A370V exm717493 8 120608229 [T/C] NM_001130863,NM_001040092,NM_006209 ENPP2,ENPP2,ENPP2 EXON Silent,Silent,Missense_G329D exm717515 8 120633676 [A/C] NM_001130863,NM_001040092,NM_006209 ENPP2,ENPP2,ENPP2 EXON Missense_A126S,Missense_A126S,Missense_A126S exm717518 8 120633756 [T/C] NM_001130863,NM_001040092,NM_006209 ENPP2,ENPP2,ENPP2 EXON Missense_R99H,Missense_R99H,Missense_R99H exm717519 8 120633757 [A/G] NM_001130863,NM_001040092,NM_006209 ENPP2,ENPP2,ENPP2 EXON Missense_R99C,Missense_R99C,Missense_R99C exm717525 8 120638927 [T/C] NM_001130863,NM_001040092,NM_006209 ENPP2,ENPP2,ENPP2 EXON Missense_G57E,Missense_G57E,Missense_G57E exm717552 8 120744399 [T/C] NM_003184 TAF2 EXON Missense_S1122N exm2262416 8 120745371 [A/G] NM_003184 TAF2 Silent exm717562 8 120758983 [G/C] NM_003184 TAF2 EXON Missense_P1024A exm2258625 8 120768256 [A/G] NM_003184 TAF2 EXON Synonymous_L956L exm717571 8 120770372 [A/C] NM_003184 TAF2 EXON Missense_S903R exm717581 8 120774755 [T/C] NM_003184 TAF2 EXON Missense_D820N exm717603 8 120801058 [A/T] NM_003184 TAF2 EXON Missense_Y552F exm717609 8 120801919 [T/C] NM_003184 TAF2 EXON Missense_S494N exm717611 8 120803637 [C/G] NM_003184 TAF2 EXON Missense_S447T exm717614 8 120805621 [T/C] NM_003184 TAF2 EXON Missense_G421E exm717636 8 120816184 [T/C] NM_003184 TAF2 EXON Missense_S165N exm717638 8 120816212 [T/C] NM_003184 TAF2 EXON Missense_K156E exm717650 8 120831728 [T/C] NM_003184 TAF2 EXON Missense_I53V exm717657 8 120844782 [A/G] NM_003184 TAF2 EXON Missense_P8L exm717663 8 120847188 [T/C] NM_024094 DSCC1 EXON Missense_H376R exm717665 8 120847222 [T/G] NM_024094 DSCC1 EXON Missense_Q365K exm717668 8 120850568 [T/C] NM_024094 DSCC1 EXON Missense_Q335R exm717669 8 120850640 [A/G] NM_024094 DSCC1 EXON Missense_A311V exm717670 8 120854088 [T/G] NM_024094 DSCC1 EXON Missense_E290D exm717671 8 120854089 [T/G] NM_024094 DSCC1 EXON Missense_E290A exm717672 8 120854119 [A/G] NM_024094 DSCC1 EXON Missense_A280V exm717681 8 120859235 [A/C] NM_024094 DSCC1 EXON Missense_I191S exm717683 8 120859269 [T/C] NM_024094 DSCC1 EXON Missense_M180V exm717693 8 120865412 [T/C] NM_024094 DSCC1 EXON Missense_S76G exm717701 8 120867994 [G/C] NM_024094 DSCC1 EXON Missense_I14M exm717708 8 120886100 [A/G] NM_022783 DEPTOR EXON Missense_G5D exm717710 8 120886112 [A/G] NM_022783 DEPTOR EXON Missense_S9N exm717719 8 120940733 [G/C] NM_022783 DEPTOR EXON Missense_W72C exm717730 8 120942099 [T/C] NM_022783 DEPTOR EXON Missense_R116C exm717741 8 120977542 [A/G] NM_022783 DEPTOR EXON Missense_M166V exm717743 8 120977570 [T/G] NM_022783 DEPTOR EXON Missense_V175G exm717755 8 121013770 [A/G] NM_022783 DEPTOR EXON Missense_N204S exm717761 8 121013854 [A/G] NM_022783 DEPTOR EXON Missense_N232S exm717770 8 121015349 [A/C] NM_022783 DEPTOR EXON Synonymous_S308S exm717782 8 121021305 [A/G] NM_022783 DEPTOR EXON Missense_R345Q exm2274325 8 121061823 [G/C] NM_022783 DEPTOR EXON Missense_Q370H exm717787 8 121061879 [A/G] NM_022783 DEPTOR EXON Missense_S389N exm2161846 8 121061929 [A/G] NM_022783 DEPTOR EXON Missense_E406K exm717799 8 121160097 [T/C] NM_021110 COL14A1 EXON Missense_R6C exm2246395 8 121209032 [A/G] NM_021110 COL14A1 EXON Missense_V147M exm717808 8 121209041 [C/G] NM_021110 COL14A1 EXON Missense_V150L exm717813 8 121209159 [A/G] NM_021110 COL14A1 EXON Missense_D189G exm717836 8 121216092 [A/G] NM_021110 COL14A1 EXON Missense_Q341R exm2161874 8 121220474 [A/G] NM_021110 COL14A1 EXON Missense_V399M exm717843 8 121220518 [A/G] NM_021110 COL14A1 EXON Missense_M413I exm717849 8 121222021 [G/C] NM_021110 COL14A1 EXON Missense_L450V exm717853 8 121222046 [A/G] NM_021110 COL14A1 EXON Missense_S458N exm717863 8 121224781 [A/C] NM_021110 COL14A1 EXON Missense_E521A exm717867 8 121228679 [A/C] NM_021110 COL14A1 EXON Missense_N563H exm717873 8 121237345 [A/G] NM_021110 COL14A1 EXON Missense_T586A exm717878 8 121237452 [T/C] NM_021110 COL14A1 EXON Synonymous_T621T exm717880 8 121238881 [A/C] NM_021110 COL14A1 EXON Missense_Q627P exm717882 8 121238907 [A/G] NM_021110 COL14A1 EXON Missense_T636A exm2258626 8 121239581 [T/C] NM_021110 COL14A1 EXON Synonymous_V709V exm717890 8 121239591 [T/C] NM_021110 COL14A1 EXON Missense_L713F exm717894 8 121243738 [A/G] NM_021110 COL14A1 EXON Missense_G744S exm717896 8 121243856 [T/C] NM_021110 COL14A1 EXON Missense_T783M exm2270914 8 121244089 [T/G] NM_021110 COL14A1 Silent exm717898 8 121256140 [A/G] NM_021110 COL14A1 EXON Missense_N791S exm717902 8 121256206 [T/C] NM_021110 COL14A1 EXON Missense_T813M exm717906 8 121256226 [A/G] NM_021110 COL14A1 EXON Missense_V820I exm717912 8 121259902 [T/C] NM_021110 COL14A1 EXON Missense_R844W exm717914 8 121259936 [T/C] NM_021110 COL14A1 EXON Missense_P855L exm717916 8 121259939 [T/G] NM_021110 COL14A1 EXON Missense_V856G exm717924 8 121267490 [A/G] NM_021110 COL14A1 EXON Missense_V922I exm717925 8 121267497 [A/G] NM_021110 COL14A1 EXON Missense_N924S exm717929 8 121267572 [A/G] NM_021110 COL14A1 EXON Missense_R949K exm717930 8 121267581 [T/C] NM_021110 COL14A1 EXON Missense_I952T exm717957 8 121290442 [A/C] NM_021110 COL14A1 EXON Missense_H1102Q exm717961 8 121290713 [T/C] NM_021110 COL14A1 EXON Missense_A1126V exm717962 8 121290743 [A/G] NM_021110 COL14A1 EXON Missense_K1136R exm717963 8 121290815 [A/G] NM_021110 COL14A1 EXON Missense_D1160G exm717967 8 121292257 [A/G] NM_021110 COL14A1 EXON Missense_V1189I exm717971 8 121292281 [A/G] NM_021110 COL14A1 EXON Missense_A1197T exm717986 8 121293179 [A/G] NM_021110 COL14A1 EXON Missense_M1235I exm718001 8 121298156 [G/C] NM_021110 COL14A1 EXON Missense_V1342L exm718004 8 121301857 [T/C] NM_021110 COL14A1 EXON Missense_V1363A exm718005 8 121301887 [T/C] NM_021110 COL14A1 EXON Missense_I1373T exm718009 8 121301922 [A/G] NM_021110 COL14A1 EXON Missense_A1385T exm718012 8 121302005 [A/G] NM_021110 COL14A1 EXON Synonymous_P1412P exm718017 8 121312972 [A/G] NM_021110 COL14A1 EXON Missense_R1439K exm718032 8 121328214 [A/G] NM_021110 COL14A1 EXON Missense_R1546H exm718050 8 121354634 [G/C] NM_021110 COL14A1 EXON Missense_Q1613E exm718059 8 121357700 [G/C] NM_021110 COL14A1 EXON Missense_P1659A exm2161965 8 121357778 [A/G] NM_021110 COL14A1 EXON Missense_V1685M exm718068 8 121381724 [A/G] NM_021110 COL14A1 EXON Missense_A1771T exm718081 8 121426258 [T/C] NM_014078 MRPL13 EXON Missense_I163V exm718086 8 121426345 [T/G] NM_014078 MRPL13 EXON Missense_P134T exm718094 8 121437595 [T/C] NM_014078 MRPL13 EXON Missense_G86E exm718122 8 121457827 [G/C] NM_022045 MTBP EXON Synonymous_P39P exm718133 8 121466092 [A/G] NM_022045 MTBP EXON Missense_Y144C exm718136 8 121467679 [A/T] NM_022045 MTBP EXON Missense_R163S exm718138 8 121467725 [A/G] NM_022045 MTBP EXON Missense_K179E exm718139 8 121467738 [A/G] NM_022045 MTBP EXON Missense_Y183C exm2276028 8 121500418 [A/G] NM_022045 MTBP EXON Synonymous_K395K exm718163 8 121500465 [A/G] NM_022045 MTBP EXON Missense_R411K exm718165 8 121500525 [A/G] NM_022045 MTBP EXON Missense_N431S exm718166 8 121500554 [A/G] NM_022045 MTBP EXON Missense_T441A exm718168 8 121502716 [G/C] NM_022045 MTBP EXON Missense_D451E exm718169 8 121502795 [T/G] NM_022045 MTBP EXON Missense_L478V exm718175 8 121509687 [C/G] NM_022045 MTBP EXON Missense_S501T exm718176 8 121509695 [A/G] NM_022045 MTBP EXON Missense_V504I exm718179 8 121509777 [A/C] NM_022045 MTBP EXON Missense_T531N exm718182 8 121514822 [G/C] NM_022045 MTBP EXON Missense_T567S exm718189 8 121519002 [A/G] NM_022045 MTBP EXON Missense_R595Q exm718190 8 121519017 [T/C] NM_022045 MTBP EXON Missense_L600S exm718191 8 121519031 [A/G] NM_022045 MTBP EXON Missense_E605K exm718201 8 121528317 [T/C] NM_022045 MTBP EXON Missense_S711L exm718203 8 121528343 [A/G] NM_022045 MTBP EXON Missense_G720R exm718208 8 121528391 [T/C] NM_022045 MTBP EXON Missense_R736W exm718212 8 121530092 [T/C] NM_022045 MTBP EXON Missense_L750F exm718218 8 121530200 [T/C] NM_022045 MTBP EXON Missense_P786S exm718227 8 121530944 [T/A] NM_022045 MTBP EXON Missense_I833L exm718239 8 121551200 [C/G] NM_021021 SNTB1 EXON Missense_L512V exm718247 8 121554213 [T/C] NM_021021 SNTB1 EXON Missense_R454H exm718251 8 121561028 [A/G] NM_021021 SNTB1 EXON Missense_A436V exm718265 8 121644692 [T/C] NM_021021 SNTB1 EXON Missense_A330T exm2274326 8 121644781 [A/C] NM_021021 SNTB1 EXON Missense_L300R exm718282 8 121706036 [G/C] NM_021021 SNTB1 EXON Missense_D228E exm718283 8 121706062 [A/G] NM_021021 SNTB1 EXON Missense_P220S exm718285 8 121706110 [G/C] NM_021021 SNTB1 EXON Missense_G204R exm2262417 8 121764843 [T/C] NM_021021 SNTB1 Silent exm718293 8 121823591 [G/C] NM_021021 SNTB1 EXON Missense_G165R exm718297 8 121823679 [T/C] NM_021021 SNTB1 EXON Missense_M135I exm718307 8 121823875 [T/C] NM_021021 SNTB1 EXON Missense_R70K exm718312 8 121823915 [A/G] NM_021021 SNTB1 EXON Missense_Y57H exm718314 8 121824011 [T/G] NM_021021 SNTB1 EXON Missense_L25M exm-rs4871137 8 121868551 [T/G] exm2270915 8 121984358 [T/C] exm2270916 8 122304366 [T/C] exm-rs7843884 8 122318550 [A/C] exm-rs17232789 8 122622500 [T/C] exm718322 8 122626390 [C/G] NM_005328 HAS2 EXON Missense_R540G exm718323 8 122626404 [T/C] NM_005328 HAS2 EXON Missense_N535S exm718348 8 122640973 [T/C] NM_005328 HAS2 EXON Missense_R203Q exm2162084 8 122641109 [T/C] NM_005328 HAS2 EXON Missense_G158S exm2270917 8 122805639 [T/C] exm-rs7844723 8 122908503 [T/C] exm2271013 8 123165047 [T/C] exm-rs6996401 8 123348238 [A/G] exm2266688 8 123464305 [A/G] exm2270918 8 123787061 [T/C] exm718360 8 123963776 [T/C] NM_014943 ZHX2 EXON Missense_T9I exm2258635 8 123964035 [A/G] NM_014943 ZHX2 EXON Synonymous_E95E exm718379 8 123964081 [A/G] NM_014943 ZHX2 EXON Missense_V111M exm718386 8 123964187 [A/G] NM_014943 ZHX2 EXON Missense_R146H exm2246404 8 123964360 [A/G] NM_014943 ZHX2 EXON Missense_E204K exm718393 8 123964375 [A/G] NM_014943 ZHX2 EXON Missense_E209K exm718395 8 123964384 [A/G] NM_014943 ZHX2 EXON Missense_V212M exm718408 8 123964774 [A/C] NM_014943 ZHX2 EXON Missense_P342T exm718411 8 123964813 [A/G] NM_014943 ZHX2 EXON Missense_T355A exm718412 8 123964819 [A/G] NM_014943 ZHX2 EXON Missense_V357M exm718419 8 123964900 [A/G] NM_014943 ZHX2 EXON Missense_G384R exm718421 8 123964912 [A/G] NM_014943 ZHX2 EXON Missense_V388I exm718440 8 123965260 [A/G] NM_014943 ZHX2 EXON Missense_E504K exm718441 8 123965276 [A/T] NM_014943 ZHX2 EXON Missense_D509V exm718447 8 123965305 [A/G] NM_014943 ZHX2 EXON Missense_G519S exm718449 8 123965365 [A/G] NM_014943 ZHX2 EXON Missense_G539S exm718455 8 123965432 [A/G] NM_014943 ZHX2 EXON Missense_R561Q exm718468 8 123965687 [T/C] NM_014943 ZHX2 EXON Missense_T646M exm718478 8 123965893 [T/C] NM_014943 ZHX2 EXON Missense_P715S exm718489 8 123966052 [A/G] NM_014943 ZHX2 EXON Missense_T768A exm718491 8 123966062 [T/G] NM_014943 ZHX2 EXON Missense_R771L exm718494 8 123966085 [A/G] NM_014943 ZHX2 EXON Missense_G779S exm718498 8 123966118 [A/G] NM_014943 ZHX2 EXON Missense_V790I exm2262420 8 124023538 [T/G] exm718518 8 124031444 [A/G] NM_001134671,NM_024295 DERL1,DERL1 EXON Missense_P183L,Missense_P203L exm718520 8 124031537 [T/C] NM_001134671,NM_024295 DERL1,DERL1 EXON Silent,Missense_N172S exm718521 8 124031541 [T/C] NM_001134671,NM_024295 DERL1,DERL1 EXON Silent,Missense_I171V exm718525 8 124033732 [T/C] NM_001134671,NM_024295 DERL1,DERL1 EXON Missense_Y154C,Missense_Y154C exm718543 8 124085043 [T/G] NM_001145088,NM_145647 WDR67,WDR67 EXON Missense_G12C,Missense_G12C exm718549 8 124089380 [C/G] NM_001145088,NM_145647 WDR67,WDR67 EXON Missense_S36C,Missense_S36C exm718551 8 124089403 [T/C] NM_001145088,NM_145647 WDR67,WDR67 EXON Nonsense_R44X,Nonsense_R44X exm718556 8 124089460 [G/C] NM_001145088,NM_145647 WDR67,WDR67 EXON Missense_Q63E,Missense_Q63E exm718557 8 124089483 [G/C] NM_001145088,NM_145647 WDR67,WDR67 EXON Missense_D70E,Missense_D70E exm718558 8 124089491 [A/G] NM_001145088,NM_145647 WDR67,WDR67 EXON Missense_G73E,Missense_G73E exm718565 8 124094998 [A/G] NM_001145088,NM_145647 WDR67,WDR67 EXON Missense_R94H,Missense_R94H exm2258637 8 124096493 [T/G] NM_001145088,NM_145647 WDR67,WDR67 EXON Synonymous_T144T,Synonymous_T144T exm718582 8 124105856 [T/C] NM_001145088,NM_145647 WDR67,WDR67 EXON Missense_T182I,Missense_T182I exm718583 8 124105951 [A/T] NM_001145088,NM_145647 WDR67,WDR67 EXON Missense_S214C,Missense_S214C exm718587 8 124109530 [A/G] NM_001145088,NM_145647 WDR67,WDR67 EXON Missense_R227Q,Missense_R227Q exm718590 8 124109635 [A/G] NM_001145088,NM_145647 WDR67,WDR67 EXON Missense_R262H,Missense_R262H exm2276029 8 124117598 [A/T] NM_001145088,NM_145647 WDR67,WDR67 EXON Missense_M368K,Missense_M368K exm718602 8 124121588 [A/G] NM_001145088,NM_145647 WDR67,WDR67 EXON Missense_R414H,Missense_R414H exm718604 8 124121727 [T/C] NM_001145088,NM_145647 WDR67,WDR67 EXON Missense_R435C,Missense_R435C exm718606 8 124121749 [A/G] NM_001145088,NM_145647 WDR67,WDR67 EXON Missense_E442G,Missense_E442G exm718610 8 124121791 [A/C] NM_001145088,NM_145647 WDR67,WDR67 EXON Missense_H456P,Missense_H456P exm718611 8 124121796 [A/G] NM_001145088,NM_145647 WDR67,WDR67 EXON Missense_A458T,Missense_A458T exm718620 8 124132394 [A/T] NM_001145088,NM_145647 WDR67,WDR67 EXON Missense_Q512H,Missense_Q512H exm718623 8 124138340 [A/G] NM_001145088,NM_145647 WDR67,WDR67 EXON Missense_I539V,Missense_I539V exm718631 8 124138890 [T/C] NM_001145088,NM_145647 WDR67,WDR67 EXON Missense_T616M,Missense_T616M exm718633 8 124138928 [A/G] NM_001145088,NM_145647 WDR67,WDR67 Silent,Silent exm718642 8 124140669 [A/G] NM_001145088,NM_145647 WDR67,WDR67 EXON Missense_N678S,Missense_N678S exm718648 8 124141313 [T/G] NM_001145088,NM_145647 WDR67,WDR67 EXON Missense_V709F,Missense_V709F exm718649 8 124141340 [A/C] NM_001145088,NM_145647 WDR67,WDR67 EXON Missense_Q718K,Missense_Q718K exm718651 8 124141388 [T/C] NM_001145088,NM_145647 WDR67,WDR67 EXON Missense_R734C,Missense_R734C exm2258638 8 124141456 [A/G] NM_001145088,NM_145647 WDR67,WDR67 EXON Synonymous_Q756Q,Synonymous_Q756Q exm718656 8 124142497 [A/G] NM_001145088,NM_145647 WDR67,WDR67 EXON Missense_R777K,Missense_R777K exm718657 8 124142502 [T/C] NM_001145088,NM_145647 WDR67,WDR67 EXON Missense_R779C,Missense_R779C exm718669 8 124154514 [A/C] NM_001145088,NM_145647 WDR67,WDR67 EXON Silent,Missense_N885H exm718672 8 124154582 [A/C] NM_001145088,NM_145647 WDR67,WDR67 EXON Silent,Missense_K907N exm718677 8 124154697 [T/G] NM_001145088,NM_145647 WDR67,WDR67 Silent,Silent exm718683 8 124157050 [C/G] NM_001145088,NM_145647 WDR67,WDR67 EXON Missense_E881Q,Missense_E977Q exm718685 8 124157074 [T/G] NM_001145088,NM_145647 WDR67,WDR67 EXON Missense_A889S,Missense_A985S exm718689 8 124162363 [T/C] NM_001145088,NM_145647 WDR67,WDR67 EXON Missense_T925I,Missense_T1021I exm718702 8 124164171 [A/G] NM_001145088,NM_145647 WDR67,WDR67 EXON Missense_A969T,Missense_A1065T exm718709 8 124195140 [A/G] NM_207006,NM_032899 FAM83A,FAM83A EXON Missense_E15G,Missense_E15G exm718715 8 124195250 [T/C] NM_207006,NM_032899 FAM83A,FAM83A EXON Missense_R52W,Missense_R52W exm718717 8 124195308 [T/C] NM_207006,NM_032899 FAM83A,FAM83A EXON Missense_I71T,Missense_I71T exm718719 8 124195352 [T/G] NM_207006,NM_032899 FAM83A,FAM83A EXON Nonsense_G86X,Nonsense_G86X exm718720 8 124195359 [T/C] NM_207006,NM_032899 FAM83A,FAM83A EXON Missense_A88V,Missense_A88V exm2162187 8 124204176 [A/G] NM_207006,NM_032899 FAM83A,FAM83A EXON Missense_C205Y,Missense_C205Y exm718737 8 124206304 [T/C] NM_207006,NM_032899 FAM83A,FAM83A EXON Missense_A230V,Missense_A230V exm718738 8 124206324 [A/G] NM_207006,NM_032899 FAM83A,FAM83A EXON Missense_A237T,Missense_A237T exm718742 8 124206388 [T/G] NM_207006,NM_032899 FAM83A,FAM83A EXON Missense_S258I,Missense_S258I exm718745 8 124219425 [C/G] NM_207006,NM_032899 FAM83A,FAM83A EXON Missense_R268G,Missense_R268G exm718758 8 124219863 [A/C] NM_207006,NM_032899 FAM83A,FAM83A EXON Silent,Missense_L414M exm718764 8 124221706 [A/C] NM_207006 FAM83A EXON Missense_Q358H exm718765 8 124221723 [T/C] NM_207006 FAM83A EXON Missense_L364P exm718766 8 124221729 [T/C] NM_207006 FAM83A EXON Missense_A366V exm718777 8 124238771 [A/G] NM_032847,NM_001204180 C8orf76,ZHX1-C8ORF76 EXON Missense_F306S,Missense_F274S exm718781 8 124238872 [T/C] NM_032847,NM_001204180 C8orf76,ZHX1-C8ORF76 EXON Synonymous_R272R,Synonymous_R240R exm718796 8 124243771 [A/G] NM_032847,NM_001204180 C8orf76,ZHX1-C8ORF76 EXON Missense_T195I,Missense_T163I exm718801 8 124243847 [A/C] NM_032847,NM_001204180 C8orf76,ZHX1-C8ORF76 EXON Missense_L170V,Missense_L138V exm2246413 8 124243930 [T/C] NM_032847,NM_001204180 C8orf76,ZHX1-C8ORF76 EXON Missense_S142N,Missense_S110N exm718807 8 124243936 [G/C] NM_032847,NM_001204180 C8orf76,ZHX1-C8ORF76 EXON Missense_C140S,Missense_C108S exm718815 8 124251302 [T/C] NM_032847,NM_001204180 C8orf76,ZHX1-C8ORF76 EXON Missense_R67Q,Missense_R35Q exm718821 8 124253479 [G/C] NM_032847,NM_001204180 C8orf76,ZHX1-C8ORF76 EXON Missense_C36W,Silent exm718832 8 124265617 [A/G] NM_001204180,NM_007222,NM_001017926,NR_037874,NR_037873 ZHX1-C8ORF76,ZHX1,ZHX1,ZHX1,ZHX1 EXON Silent,Missense_T857I,Missense_T857I,Silent,Silent exm718849 8 124266002 [T/C] NM_001204180,NM_007222,NM_001017926,NR_037874,NR_037873 ZHX1-C8ORF76,ZHX1,ZHX1,ZHX1,ZHX1 EXON Silent,Missense_A729T,Missense_A729T,Silent,Silent exm718869 8 124266862 [A/G] NM_001204180,NM_007222,NM_001017926,NR_037874,NR_037873 ZHX1-C8ORF76,ZHX1,ZHX1,ZHX1,ZHX1 EXON Silent,Missense_P442L,Missense_P442L,Silent,Silent exm718871 8 124266887 [T/C] NM_001204180,NM_007222,NM_001017926,NR_037874,NR_037873 ZHX1-C8ORF76,ZHX1,ZHX1,ZHX1,ZHX1 EXON Silent,Missense_A434T,Missense_A434T,Silent,Silent exm718875 8 124267004 [T/C] NM_001204180,NM_007222,NM_001017926,NR_037874,NR_037873 ZHX1-C8ORF76,ZHX1,ZHX1,ZHX1,ZHX1 EXON Silent,Missense_G395S,Missense_G395S,Silent,Silent exm718886 8 124267441 [A/G] NM_001204180,NM_007222,NM_001017926,NR_037874,NR_037873 ZHX1-C8ORF76,ZHX1,ZHX1,ZHX1,ZHX1 EXON Silent,Missense_T249M,Missense_T249M,Silent,Silent exm718896 8 124267666 [A/G] NM_001204180,NM_007222,NM_001017926,NR_037874,NR_037873 ZHX1-C8ORF76,ZHX1,ZHX1,ZHX1,ZHX1 EXON Silent,Missense_S174L,Missense_S174L,Silent,Silent exm718907 8 124268008 [T/C] NM_001204180,NM_007222,NM_001017926,NR_037874,NR_037873 ZHX1-C8ORF76,ZHX1,ZHX1,ZHX1,ZHX1 EXON Silent,Missense_N60S,Missense_N60S,Silent,Silent exm2162237 8 124268041 [A/T] NM_001204180,NM_007222,NM_001017926,NR_037874,NR_037873 ZHX1-C8ORF76,ZHX1,ZHX1,ZHX1,ZHX1 EXON Silent,Missense_D49V,Missense_D49V,Silent,Silent exm718924 8 124335209 [T/C] NM_014109 ATAD2 EXON Missense_R1367H exm718925 8 124335225 [A/G] NM_014109 ATAD2 EXON Missense_C1362R exm718939 8 124340461 [T/C] NM_014109 ATAD2 EXON Missense_I1279M exm718942 8 124340528 [T/C] NM_014109 ATAD2 EXON Missense_K1257R exm718957 8 124346156 [A/G] NM_014109 ATAD2 EXON Missense_L1147P exm718965 8 124348685 [T/C] NM_014109 ATAD2 EXON Missense_K1047E exm718966 8 124348687 [A/G] NM_014109 ATAD2 EXON Missense_V1046A exm718971 8 124351667 [T/C] NM_014109 ATAD2 EXON Missense_R913H exm718973 8 124357252 [T/C] NM_014109 ATAD2 EXON Missense_V864M exm718975 8 124357302 [T/C] NM_014109 ATAD2 EXON Missense_R847H exm718981 8 124358918 [A/C] NM_014109 ATAD2 EXON Missense_G762V exm718982 8 124358931 [C/G] NM_014109 ATAD2 EXON Missense_V758L exm718993 8 124359584 [A/G] NM_014109 ATAD2 EXON Missense_R654C exm719018 8 124369902 [T/C] NM_014109 ATAD2 EXON Missense_Q486R exm719023 8 124371546 [T/C] NM_014109 ATAD2 EXON Missense_N433D exm719045 8 124382144 [T/C] NM_014109 ATAD2 EXON Missense_E283G exm719049 8 124382161 [T/A] NM_014109 ATAD2 EXON Missense_D277E exm719063 8 124382244 [T/C] NM_014109 ATAD2 EXON Missense_D250N exm719103 8 124440174 [A/G] NM_018024 WDYHV1 EXON Missense_I32V exm719104 8 124440191 [A/C] NM_018024 WDYHV1 EXON Missense_E37D exm719105 8 124440235 [G/C] NM_018024 WDYHV1 EXON Missense_A52G exm719108 8 124440262 [T/C] NM_018024 WDYHV1 EXON Missense_M61T exm719119 8 124448718 [T/C] NM_018024 WDYHV1 EXON Missense_V87A exm719120 8 124448736 [A/G] NM_018024 WDYHV1 EXON Missense_N93S exm719122 8 124448804 [T/A] NM_018024 WDYHV1 EXON Missense_F116I exm719125 8 124449466 [T/C] NM_018024 WDYHV1 EXON Missense_R134C exm719131 8 124449540 [C/G] NM_018024 WDYHV1 EXON Missense_E158D exm719135 8 124453605 [A/G] NM_018024 WDYHV1 EXON Missense_V190I exm-rs13265801 8 124460546 [A/G] exm719151 8 124516917 [T/C] NM_058229,NM_148177,NM_001242463 FBXO32,FBXO32,FBXO32 EXON Missense_R302Q,Missense_R157Q,Missense_R209Q exm719160 8 124518736 [A/G] NM_058229,NM_148177,NM_001242463 FBXO32,FBXO32,FBXO32 EXON Missense_R244W,Missense_R99W,Missense_R151W exm719162 8 124518796 [T/C] NM_058229,NM_148177,NM_001242463 FBXO32,FBXO32,FBXO32 EXON Missense_T224A,Missense_T79A,Missense_T131A exm2266689 8 124526607 [A/G] NM_058229,NM_148177,NM_001242463 FBXO32,FBXO32,FBXO32 Silent,Silent,Silent exm719180 8 124547004 [T/C] NM_058229,NM_001242463 FBXO32,FBXO32 EXON Missense_N56S,Missense_N56S exm2258639 8 124553222 [C/G] NM_058229,NM_001242463 FBXO32,FBXO32 EXON Synonymous_P11P,Synonymous_P11P exm719204 8 124658193 [A/C] NM_001081675 KLHL38 EXON Missense_R511M exm719206 8 124658197 [A/G] NM_001081675 KLHL38 EXON Missense_R510W exm719207 8 124658203 [T/C] NM_001081675 KLHL38 EXON Missense_K508E exm719220 8 124663818 [T/C] NM_001081675 KLHL38 EXON Missense_Q450R exm719221 8 124663835 [T/G] NM_001081675 KLHL38 EXON Missense_N444K exm719225 8 124663857 [C/G] NM_001081675 KLHL38 EXON Missense_G437A exm719235 8 124663978 [A/G] NM_001081675 KLHL38 EXON Missense_L397F exm719236 8 124663987 [G/C] NM_001081675 KLHL38 EXON Missense_G394R exm719237 8 124663995 [A/G] NM_001081675 KLHL38 EXON Missense_I391T exm719241 8 124664019 [T/G] NM_001081675 KLHL38 EXON Missense_N383T exm719243 8 124664065 [A/G] NM_001081675 KLHL38 EXON Missense_P368S exm719247 8 124664113 [A/T] NM_001081675 KLHL38 EXON Missense_N352Y exm719248 8 124664130 [T/C] NM_001081675 KLHL38 EXON Missense_R346K exm719249 8 124664167 [T/C] NM_001081675 KLHL38 EXON Missense_I334V exm719256 8 124664239 [T/C] NM_001081675 KLHL38 EXON Missense_G310S exm719262 8 124664368 [T/C] NM_001081675 KLHL38 EXON Missense_V267I exm719273 8 124664520 [T/G] NM_001081675 KLHL38 EXON Missense_Q216P exm719288 8 124664772 [A/G] NM_001081675 KLHL38 EXON Missense_A132V exm719292 8 124664836 [T/C] NM_001081675 KLHL38 EXON Missense_A111T exm719293 8 124664859 [T/G] NM_001081675 KLHL38 EXON Missense_N103T exm719294 8 124664860 [T/C] NM_001081675 KLHL38 EXON Missense_N103D exm719310 8 124665046 [T/C] NM_001081675 KLHL38 EXON Missense_G41S exm719322 8 124693509 [A/G] NM_001003954,NM_004306 ANXA13,ANXA13 EXON Missense_R349W,Missense_R308W exm719330 8 124696864 [T/C] NM_001003954,NM_004306 ANXA13,ANXA13 EXON Missense_V314M,Missense_V273M exm719331 8 124696867 [T/C] NM_001003954,NM_004306 ANXA13,ANXA13 EXON Missense_V313I,Missense_V272I exm719341 8 124701138 [T/C] NM_001003954,NM_004306 ANXA13,ANXA13 EXON Missense_D272N,Missense_D231N exm719347 8 124705489 [A/G] NM_001003954,NM_004306 ANXA13,ANXA13 EXON Missense_L238P,Missense_L197P exm2162383 8 124705512 [T/A] NM_001003954,NM_004306 ANXA13,ANXA13 EXON Missense_D230E,Missense_D189E exm719350 8 124705959 [T/G] NM_001003954,NM_004306 ANXA13,ANXA13 EXON Missense_L219M,Missense_L178M exm719354 8 124707783 [T/C] NM_001003954,NM_004306 ANXA13,ANXA13 EXON Missense_T185A,Missense_T144A exm719359 8 124707952 [T/C] NM_001003954,NM_004306 ANXA13,ANXA13 EXON Missense_A164T,Missense_A123T exm719363 8 124710664 [T/C] NM_001003954,NM_004306 ANXA13,ANXA13 EXON Missense_V149I,Missense_V108I exm2162393 8 124710712 [T/C] NM_001003954,NM_004306 ANXA13,ANXA13 EXON Missense_A133T,Missense_A92T exm719369 8 124710715 [T/C] NM_001003954,NM_004306 ANXA13,ANXA13 EXON Missense_A132T,Missense_A91T exm719372 8 124710729 [T/C] NM_001003954,NM_004306 ANXA13,ANXA13 EXON Missense_R127H,Missense_R86H exm719373 8 124710730 [A/G] NM_001003954,NM_004306 ANXA13,ANXA13 EXON Missense_R127C,Missense_R86C exm719386 8 124724982 [C/G] NM_001003954,NM_004306 ANXA13,ANXA13 EXON Missense_S50R,Missense_S9R exm719390 8 124748047 [A/C] NM_001003954,NM_004306 ANXA13,ANXA13 EXON Missense_V29G,Silent exm719396 8 124748087 [C/G] NM_001003954,NM_004306 ANXA13,ANXA13 EXON Missense_Q16E,Silent exm-rs10088262 8 124765702 [A/G] exm719409 8 124786374 [T/C] NM_144963 FAM91A1 EXON Missense_R43C exm719426 8 124796805 [A/C] NM_144963 FAM91A1 EXON Missense_N267H exm719457 8 124811863 [T/C] NM_144963 FAM91A1 EXON Missense_T555I exm719465 8 124817514 [A/G] NM_144963 FAM91A1 EXON Missense_G606D exm719472 8 124818449 [A/G] NM_144963 FAM91A1 EXON Missense_S671N exm719475 8 124820546 [A/T] NM_144963 FAM91A1 EXON Missense_N689K exm2162432 8 124820551 [A/G] NM_144963 FAM91A1 EXON Missense_S691N exm719476 8 124820589 [A/G] NM_144963 FAM91A1 EXON Missense_I704V exm2258641 8 124822540 [T/C] NM_144963 FAM91A1 EXON Synonymous_H760H exm2262421 8 124828616 [A/G] exm-rs10481151 8 124831834 [T/C] exm719496 8 124968243 [T/C] NM_001039112 FER1L6 EXON Missense_F2S exm719509 8 124978406 [T/A] NM_001039112 FER1L6 EXON Missense_I87K exm719516 8 124982294 [T/C] NM_001039112 FER1L6 EXON Missense_I135T exm719518 8 124982337 [T/C] NM_001039112 FER1L6 EXON Synonymous_S149S exm719524 8 124985737 [A/G] NM_001039112 FER1L6 EXON Missense_V171M exm719528 8 124987404 [A/G] NM_001039112 FER1L6 EXON Missense_N181D exm719531 8 124987467 [T/C] NM_001039112 FER1L6 EXON Missense_C202R exm-rs7465584 8 124987478 [T/C] NM_001039112 FER1L6 EXON Synonymous_S205S exm719534 8 124987530 [A/G] NM_001039112 FER1L6 EXON Missense_E223K exm719537 8 124988155 [A/G] NM_001039112 FER1L6 EXON Missense_N234S exm719539 8 124988167 [T/C] NM_001039112 FER1L6 EXON Missense_L238P exm719544 8 124988245 [T/C] NM_001039112 FER1L6 EXON Missense_A264V exm719547 8 124988268 [A/G] NM_001039112 FER1L6 EXON Missense_G272S exm719553 8 124989741 [T/C] NM_001039112 FER1L6 EXON Missense_R319W exm719566 8 124992866 [T/C] NM_001039112 FER1L6 EXON Missense_R409W exm719568 8 124992887 [T/C] NM_001039112 FER1L6 EXON Missense_S416P exm719577 8 124998410 [T/G] NM_001039112,NR_040044 FER1L6,FER1L6-AS1 EXON Missense_S505A,Silent exm719589 8 125022871 [T/C] NM_001039112,NR_040044 FER1L6,FER1L6-AS1 EXON Missense_C580R,Silent exm719590 8 125022905 [T/C] NM_001039112,NR_040044 FER1L6,FER1L6-AS1 EXON Missense_T591I,Silent exm719597 8 125029932 [T/C] NM_001039112,NR_040044 FER1L6,FER1L6-AS1 EXON Nonsense_R663X,Silent exm719600 8 125033797 [T/C] NM_001039112,NR_040044 FER1L6,FER1L6-AS1 EXON Missense_M674T,Silent exm719604 8 125033863 [A/C] NM_001039112,NR_040044 FER1L6,FER1L6-AS1 EXON Missense_H696P,Silent exm719608 8 125033892 [T/C] NM_001039112,NR_040044 FER1L6,FER1L6-AS1 EXON Missense_R706C,Silent exm719609 8 125033901 [C/G] NM_001039112,NR_040044 FER1L6,FER1L6-AS1 EXON Missense_V709L,Silent exm719610 8 125033908 [A/T] NM_001039112,NR_040044 FER1L6,FER1L6-AS1 EXON Missense_E711V,Silent exm719615 8 125035790 [A/G] NM_001039112,NR_040044 FER1L6,FER1L6-AS1 EXON Missense_G747E,Silent exm719622 8 125047645 [T/C] NM_001039112,NR_040044 FER1L6,FER1L6-AS1 EXON Missense_S805F,Silent exm719625 8 125052176 [A/G] NM_001039112,NR_040044 FER1L6,FER1L6-AS1 EXON Missense_A840T,Silent exm2258642 8 125061895 [A/G] NM_001039112 FER1L6 EXON Synonymous_K924K exm2246431 8 125061899 [G/C] NM_001039112 FER1L6 EXON Missense_A926P exm719638 8 125061950 [T/G] NM_001039112 FER1L6 EXON Missense_G943W exm719642 8 125072454 [A/G] NM_001039112 FER1L6 EXON Missense_V970I exm719646 8 125072503 [A/G] NM_001039112 FER1L6 EXON Missense_R986Q exm719649 8 125072527 [T/G] NM_001039112 FER1L6 EXON Missense_V994G exm719657 8 125072844 [A/G] NM_001039112 FER1L6 EXON Missense_R1014Q exm719658 8 125072859 [T/C] NM_001039112 FER1L6 EXON Missense_I1019T exm719660 8 125072891 [A/G] NM_001039112 FER1L6 EXON Missense_V1030M exm719667 8 125074181 [T/C] NM_001039112 FER1L6 EXON Missense_T1079I exm719671 8 125074268 [A/G] NM_001039112 FER1L6 EXON Missense_G1108E exm719672 8 125074273 [A/G] NM_001039112 FER1L6 EXON Missense_D1110N exm719673 8 125076589 [T/G] NM_001039112 FER1L6 EXON Missense_D1110E exm719679 8 125076737 [A/G] NM_001039112 FER1L6 EXON Missense_V1160I exm2246432 8 125076774 [T/C] NM_001039112 FER1L6 EXON Missense_T1172I exm719690 8 125080035 [A/G] NM_001039112 FER1L6 EXON Missense_K1236E exm719699 8 125082790 [T/C] NM_001039112 FER1L6 EXON Missense_T1306M exm719704 8 125083826 [T/C] NM_001039112 FER1L6 EXON Missense_P1349L exm719706 8 125083831 [A/G] NM_001039112 FER1L6 EXON Missense_N1351D exm719708 8 125083865 [T/C] NM_001039112 FER1L6 EXON Missense_I1362T exm719711 8 125083870 [A/G] NM_001039112 FER1L6 EXON Missense_A1364T exm719723 8 125094665 [T/C] NM_001039112 FER1L6 EXON Nonsense_R1453X exm719725 8 125094690 [A/G] NM_001039112 FER1L6 EXON Missense_Q1461R exm719727 8 125103702 [T/C] NM_001039112 FER1L6 EXON Missense_T1477I exm719729 8 125103719 [A/C] NM_001039112 FER1L6 EXON Missense_L1483I exm719733 8 125103824 [A/G] NM_001039112 FER1L6 EXON Missense_D1518N exm719738 8 125107230 [A/C] NM_001039112 FER1L6 EXON Missense_H1549P exm719740 8 125109516 [A/G] NM_001039112 FER1L6 EXON Missense_R1567H exm719745 8 125110124 [T/G] NM_001039112 FER1L6 EXON Missense_G1628V exm719754 8 125113568 [A/G] NM_001039112 FER1L6 EXON Missense_D1705G exm719756 8 125115409 [C/G] NM_001039112 FER1L6 EXON Missense_N1716K exm719758 8 125115420 [A/G] NM_001039112 FER1L6 EXON Missense_R1720Q exm2162549 8 125115444 [A/G] NM_001039112 FER1L6 EXON Missense_C1728Y exm719760 8 125115520 [A/G] NM_001039112 FER1L6 EXON Nonsense_W1753X exm719769 8 125131899 [A/C] NM_001039112 FER1L6 EXON Nonsense_Y1814X exm719774 8 125132008 [T/C] NM_001039112 FER1L6 EXON Nonsense_R1851X exm719775 8 125132009 [A/G] NM_001039112 FER1L6 EXON Missense_R1851Q exm719776 8 125132012 [T/G] NM_001039112 FER1L6 EXON Missense_R1852M exm2246434 8 125326262 [A/G] NM_194291 TMEM65 EXON Missense_M221T exm719813 8 125463211 [C/G] NM_017956 TRMT12 EXON Missense_G15R exm719815 8 125463220 [A/G] NM_017956 TRMT12 EXON Missense_V18M exm719816 8 125463233 [T/C] NM_017956 TRMT12 EXON Missense_A22V exm719817 8 125463250 [T/C] NM_017956 TRMT12 EXON Missense_W28R exm719823 8 125463428 [T/C] NM_017956 TRMT12 EXON Missense_T87M exm719825 8 125463458 [A/G] NM_017956 TRMT12 EXON Missense_R97K exm719829 8 125463550 [A/G] NM_017956 TRMT12 EXON Missense_A128T exm719845 8 125464129 [T/G] NM_017956 TRMT12 EXON Missense_A321S exm719863 8 125487498 [A/T] NM_007218 RNF139 EXON Missense_C50S exm719882 8 125498341 [T/C] NM_007218 RNF139 EXON Missense_Y151H exm719896 8 125499091 [A/G] NM_007218 RNF139 EXON Missense_I401V exm719920 8 125499836 [T/C] NM_007218 RNF139 EXON Missense_I649T exm2162594 8 125499839 [A/G] NM_007218 RNF139 EXON Missense_Q650R exm719929 8 125506111 [A/G] NM_001146160,NM_032026,NR_027427 TATDN1,TATDN1,TATDN1 EXON Missense_H205Y,Missense_H252Y,Silent exm719945 8 125520732 [A/G] NM_001146160,NM_032026,NR_027427 TATDN1,TATDN1,TATDN1 EXON Missense_R120W,Missense_R167W,Silent exm2162604 8 125520754 [C/G] NM_001146160,NM_032026,NR_027427 TATDN1,TATDN1,TATDN1 EXON Missense_D112E,Missense_D159E,Silent exm719949 8 125520892 [T/C] NM_001146160,NM_032026,NR_027427 TATDN1,TATDN1,TATDN1 EXON Missense_K96E,Missense_K143E,Silent exm719952 8 125527996 [A/G] NM_001146160,NM_032026,NR_027427 TATDN1,TATDN1,TATDN1 EXON Missense_T80I,Missense_T127I,Silent exm719959 8 125528161 [T/C] NM_001146160,NM_032026,NR_027427 TATDN1,TATDN1,TATDN1 EXON Missense_G58R,Missense_G105R,Silent exm719967 8 125531065 [T/C] NM_001146160,NM_032026,NR_027427 TATDN1,TATDN1,TATDN1 EXON Missense_T19A,Missense_T66A,Silent exm719970 8 125531106 [T/C] NM_001146160,NM_032026,NR_027427 TATDN1,TATDN1,TATDN1 EXON Missense_G5E,Missense_G52E,Silent exm719978 8 125551274 [T/C] NM_001146160,NM_032026,NR_027427 TATDN1,TATDN1,TATDN1 EXON Silent,Missense_K5R,Silent exm720000 8 125555335 [T/C] NM_005005 NDUFB9 EXON Missense_Y37H exm720003 8 125555366 [T/G] NM_005005 NDUFB9 EXON Missense_R47L exm720005 8 125555387 [T/A] NM_005005 NDUFB9 EXON Missense_E54V exm720013 8 125559332 [A/G] NM_005005 NDUFB9 EXON Missense_R129Q exm720018 8 125562029 [T/C] NM_005005 NDUFB9 EXON Missense_P146S exm720020 8 125562065 [G/C] NM_005005 NDUFB9 EXON Missense_R158G exm720021 8 125562117 [A/G] NM_005005 NDUFB9 EXON Missense_R175Q exm720022 8 125562129 [T/C] NM_005005 NDUFB9 EXON Missense_M179T exm720028 8 125565328 [T/C] NM_014751 MTSS1 EXON Missense_T725A exm2258643 8 125565560 [T/C] NM_014751 MTSS1 EXON Synonymous_S647S exm720041 8 125565607 [G/C] NM_014751 MTSS1 EXON Missense_A632P exm2162644 8 125565690 [A/G] NM_014751 MTSS1 EXON Missense_I604T exm720049 8 125565760 [T/C] NM_014751 MTSS1 EXON Missense_M581V exm720070 8 125568502 [A/G] NM_014751 MTSS1 EXON Missense_R459W exm720077 8 125568573 [A/G] NM_014751 MTSS1 EXON Missense_P435L exm720078 8 125568592 [A/G] NM_014751 MTSS1 EXON Missense_R429C exm2258644 8 125568623 [A/G] NM_014751 MTSS1 EXON Synonymous_Y418Y exm720083 8 125569956 [A/C] NM_014751 MTSS1 EXON Missense_G399V exm720086 8 125570011 [A/G] NM_014751 MTSS1 EXON Missense_R381W exm2258645 8 125575182 [T/C] NM_014751 MTSS1 EXON Synonymous_S292S exm720105 8 125577930 [A/G] NM_014751 MTSS1 EXON Missense_T266I exm720109 8 125579347 [T/C] NM_014751 MTSS1 EXON Missense_M231V exm720134 8 125603467 [T/C] NM_014751 MTSS1 EXON Missense_R73K exm720135 8 125711783 [T/C] NM_014751 MTSS1 EXON Missense_M64I exm2270919 8 125755750 [T/C] exm2258647 8 125892187 [A/G] exm720145 8 125987907 [A/G] NM_152412 ZNF572 EXON Missense_V9I exm720150 8 125988688 [A/C] NM_152412 ZNF572 EXON Missense_P60T exm720180 8 125989280 [A/G] NM_152412 ZNF572 EXON Missense_Y257C exm720182 8 125989361 [G/C] NM_152412 ZNF572 EXON Missense_S284T exm720183 8 125989375 [T/C] NM_152412 ZNF572 EXON Missense_R289C exm720188 8 125989432 [A/T] NM_152412 ZNF572 EXON Missense_S308C exm720191 8 125989460 [A/C] NM_152412 ZNF572 EXON Missense_K317T exm720192 8 125989478 [T/C] NM_152412 ZNF572 EXON Missense_T323I exm720194 8 125989649 [A/G] NM_152412 ZNF572 EXON Missense_G380E exm720200 8 125989749 [A/C] NM_152412 ZNF572 EXON Missense_R413S exm720201 8 125989758 [C/G] NM_152412 ZNF572 EXON Missense_E416D exm720204 8 125989852 [A/T] NM_152412 ZNF572 EXON Missense_S448C exm720208 8 125989966 [T/C] NM_152412 ZNF572 EXON Missense_H486Y exm720211 8 125990008 [A/G] NM_152412 ZNF572 EXON Missense_V500I exm2162721 8 125990080 [A/G] NM_152412 ZNF572 EXON Missense_V524I exm720247 8 126021283 [A/G] NM_003129 SQLE EXON Missense_N298S exm720252 8 126021519 [A/G] NM_003129 SQLE EXON Missense_I348V exm720255 8 126023815 [A/G] NM_003129 SQLE EXON Missense_N382S exm720259 8 126030441 [A/G] NM_003129 SQLE EXON Missense_E449K exm720264 8 126030967 [T/A] NM_003129 SQLE EXON Missense_D481V exm720266 8 126033079 [A/G] NM_003129 SQLE EXON Missense_E500K exm720288 8 126044499 [T/C] NM_014846 KIAA0196 EXON Missense_V1107M exm720306 8 126051184 [A/G] NM_014846 KIAA0196 EXON Missense_I991T exm720322 8 126056869 [T/C] NM_014846 KIAA0196 EXON Missense_R859H exm720327 8 126059531 [T/C] NM_014846 KIAA0196 EXON Missense_I808V exm2162787 8 126071717 [A/G] NM_014846 KIAA0196 EXON Missense_F530S exm720364 8 126073406 [C/G] NM_014846 KIAA0196 EXON Nonsense_S480X exm720367 8 126075826 [T/C] NM_014846 KIAA0196 EXON Missense_R449Q exm720372 8 126079895 [T/C] NM_014846 KIAA0196 EXON Missense_N406S exm720375 8 126079925 [T/C] NM_014846 KIAA0196 EXON Missense_K396R exm720395 8 126091036 [T/C] NM_014846 KIAA0196 EXON Missense_E219K exm720398 8 126091044 [A/G] NM_014846 KIAA0196 EXON Missense_P216L exm720399 8 126091052 [C/G] NM_014846 KIAA0196 EXON Missense_Q213H exm720404 8 126091074 [T/C] NM_014846 KIAA0196 EXON Missense_N206S exm720420 8 126095371 [T/C] NM_014846 KIAA0196 EXON Missense_I106V exm720425 8 126095980 [A/G] NM_014846 KIAA0196 EXON Missense_I54T exm720427 8 126096019 [T/C] NM_014846 KIAA0196 EXON Missense_R41K exm720442 8 126163472 [T/C] NM_173685 NSMCE2 EXON Missense_R73W exm720449 8 126194371 [A/G] NM_173685 NSMCE2 EXON Missense_I97M exm720450 8 126194457 [T/G] NM_173685 NSMCE2 EXON Missense_F126C exm720461 8 126379041 [A/G] NM_173685 NSMCE2 EXON Missense_I220V exm720479 8 126443478 [T/C] NM_025195 TRIB1 EXON Missense_H112Y exm2274329 8 126448393 [A/G] NM_025195 TRIB1 EXON Missense_V267I exm720515 8 126448615 [A/G] NM_025195 TRIB1 EXON Missense_V341I exm720518 8 126448674 [T/G] NM_025195 TRIB1 EXON Missense_E360D exm-rs2954026 8 126484526 [T/G] exm-rs2954029 8 126490972 [A/T] exm-rs2954033 8 126493746 [A/G] exm-rs2954038 8 126507389 [A/C] exm-rs4871611 8 126537570 [A/G] exm2266692 8 126539885 [A/G] exm-rs1551398 8 126540051 [A/G] exm-rs2015243 8 126672930 [A/C] exm-rs16901004 8 126971002 [T/C] exm2258649 8 126984970 [T/G] exm720531 8 127568922 [C/G] NM_174911 FAM84B EXON Missense_R238P exm720546 8 127569424 [T/G] NM_174911 FAM84B EXON Missense_P71T exm2271016 8 127781440 [T/G] exm2270922 8 127830777 [T/C] exm-rs1016343 8 128093297 [T/C] exm-rs13252298 8 128095156 [A/G] exm-rs1456315 8 128103937 [T/C] exm-rs2456449 8 128192981 [A/G] exm-rs4871014 8 128270980 [T/C] exm-rs16902094 8 128320346 [A/G] exm-rs445114 8 128323181 [T/C] exm-rs13281615 8 128355618 [A/G] exm-rs1562430 8 128387852 [T/C] exm-rs10505477 8 128407443 [A/G] exm-rs6983267 8 128413305 [T/G] exm-rs7014346 8 128424792 [A/G] exm-rs1447295 8 128485038 [A/C] NR_024393 LOC727677 Silent exm2270923 8 128491792 [T/G] NR_024393 LOC727677 Silent exm-rs4242382 8 128517573 [A/G] exm-rs4242384 8 128518554 [A/C] exm-rs7837688 8 128539360 [T/G] exm-rs9642880 8 128718068 [T/G] exm720579 8 128750527 [T/C] NM_002467 MYC EXON Missense_F22L exm720581 8 128750540 [A/G] NM_002467 MYC EXON Missense_N26S exm720584 8 128750602 [T/C] NM_002467 MYC EXON Missense_Y47H exm720603 8 128751016 [A/G] NM_002467 MYC EXON Missense_V185I exm720616 8 128752745 [A/C] NM_002467 MYC EXON Missense_H302Q exm720620 8 128752924 [T/C] NM_002467 MYC EXON Missense_S362F exm2266765 8 128920127 [A/G] NR_003367 PVT1 Silent exm2258654 8 129059110 [T/C] NR_003367 PVT1 Silent exm-rs2648875 8 129072161 [A/G] NR_003367 PVT1 Silent exm-rs2608053 8 129075832 [T/C] NR_003367 PVT1 Silent exm-rs2019960 8 129192271 [T/C] exm-rs10492294 8 129246415 [T/C] exm-rs9792269 8 129264589 [A/G] exm-rs975730 8 129316014 [A/G] exm2258655 8 129384895 [A/C] exm-rs10088218 8 129543949 [A/G] exm-rs6651252 8 129567181 [T/C] exm2271017 8 129596286 [T/G] exm-rs2060145 8 129807905 [T/C] exm-rs987525 8 129946154 [A/C] exm2270925 8 130004216 [T/C] exm2271018 8 130367554 [T/G] exm-rs891835 8 130491752 [T/G] exm-rs10956483 8 130572110 [C/G] exm2270926 8 130603635 [T/C] exm-rs4295627 8 130685457 [T/G] exm720655 8 130760802 [A/G] NM_031415 GSDMC EXON Missense_P491L exm720658 8 130760850 [A/G] NM_031415 GSDMC EXON Missense_M475T exm720663 8 130760887 [T/C] NM_031415 GSDMC EXON Missense_I463V exm720665 8 130760952 [A/G] NM_031415 GSDMC EXON Missense_P441L exm720671 8 130761751 [T/C] NM_031415 GSDMC EXON Missense_D412N exm2258658 8 130762291 [A/G] NM_031415 GSDMC EXON Synonymous_N386N exm720680 8 130762338 [T/C] NM_031415 GSDMC EXON Missense_D371N exm720681 8 130762676 [A/C] NM_031415 GSDMC Silent exm720682 8 130762684 [A/C] NM_031415 GSDMC EXON Missense_M359R exm720684 8 130762732 [T/C] NM_031415 GSDMC EXON Missense_Y343C exm720687 8 130762769 [T/C] NM_031415 GSDMC EXON Missense_A331T exm720699 8 130764945 [T/C] NM_031415 GSDMC EXON Synonymous_P281P exm720709 8 130765034 [A/C] NM_031415 GSDMC EXON Missense_A252S exm720714 8 130774873 [T/G] NM_031415 GSDMC EXON Missense_K225N exm720719 8 130774962 [T/C] NM_031415 GSDMC EXON Missense_E196K exm720722 8 130777897 [T/C] NM_031415 GSDMC EXON Missense_A183T exm720726 8 130777995 [T/C] NM_031415 GSDMC EXON Missense_R150K exm720727 8 130777999 [A/G] NM_031415 GSDMC EXON Missense_R149W exm2277361 8 130788348 [A/C] NM_031415 GSDMC EXON Missense_R135M exm2163019 8 130788427 [T/C] NM_031415 GSDMC EXON Missense_A109T exm720733 8 130788466 [A/C] NM_031415 GSDMC EXON Missense_G96C exm720742 8 130789646 [T/C] NM_031415 GSDMC EXON Missense_N63S exm720745 8 130789674 [T/C] NM_031415 GSDMC EXON Missense_D54N exm720748 8 130789698 [A/G] NM_031415 GSDMC EXON Missense_R46C exm720749 8 130789716 [A/G] NM_031415 GSDMC EXON Nonsense_R40X exm720753 8 130789767 [A/G] NM_031415 GSDMC EXON Missense_P23S exm720755 8 130789790 [T/C] NM_031415 GSDMC EXON Missense_E15G exm720758 8 130789823 [A/C] NM_031415 GSDMC EXON Missense_M4R exm-rs10092658 8 130980472 [T/C] NR_046361,NR_046360 FAM49B,FAM49B Silent,Silent exm2258659 8 131027841 [T/C] NR_046361,NR_046360 FAM49B,FAM49B Silent,Silent exm720801 8 131072829 [T/C] NM_001247996,NM_018482 ASAP1,ASAP1 EXON Missense_N1056S,Missense_N1063S exm720816 8 131073049 [G/C] NM_001247996,NM_018482 ASAP1,ASAP1 EXON Missense_P983A,Missense_P990A exm2246453 8 131073135 [A/T] NM_001247996,NM_018482 ASAP1,ASAP1 EXON Missense_E954V,Missense_E961V exm2163051 8 131073150 [A/G] NM_001247996,NM_018482 ASAP1,ASAP1 EXON Missense_P949L,Missense_P956L exm-rs6984045 8 131092413 [T/C] NM_001247996,NM_018482 ASAP1,ASAP1 Silent,Silent exm720829 8 131104231 [T/C] NM_001247996,NM_018482 ASAP1,ASAP1 EXON Missense_A847T,Missense_A854T exm720843 8 131124559 [T/C] NM_001247996,NM_018482 ASAP1,ASAP1 EXON Missense_I721V,Missense_I728V exm2163060 8 131127924 [T/G] NM_001247996,NM_018482 ASAP1,ASAP1 EXON Missense_N701H,Missense_N708H exm720852 8 131128940 [G/C] NM_001247996,NM_018482 ASAP1,ASAP1 EXON Missense_T676S,Missense_T683S exm720859 8 131130429 [T/C] NM_001247996,NM_018482 ASAP1,ASAP1 EXON Missense_V613I,Missense_V620I exm720864 8 131130814 [T/C] NM_001247996,NM_018482 ASAP1,ASAP1 EXON Missense_K565R,Missense_K572R exm720868 8 131136340 [T/C] NM_001247996,NM_018482 ASAP1,ASAP1 EXON Missense_N502S,Missense_N509S exm720879 8 131140268 [A/G] NM_001247996,NM_018482 ASAP1,ASAP1 EXON Missense_A422V,Missense_A429V exm720923 8 131226930 [T/C] NM_001247996,NM_018482 ASAP1,ASAP1 EXON Missense_E86K,Missense_E93K exm720925 8 131370285 [T/C] NM_001247996,NM_018482 ASAP1,ASAP1 EXON Missense_N48S,Missense_N55S exm2270928 8 131498180 [T/C] exm2262429 8 131537955 [A/G] exm-rs263238 8 131812033 [A/G] NM_001115 ADCY8 Silent exm720979 8 131848572 [T/C] NM_001115 ADCY8 EXON Missense_V876I exm720982 8 131848632 [T/C] NM_001115 ADCY8 EXON Missense_V856I exm720987 8 131859737 [A/G] NM_001115 ADCY8 EXON Missense_S812L exm720989 8 131859756 [A/G] NM_001115 ADCY8 EXON Missense_W806R exm720994 8 131861945 [T/C] NM_001115 ADCY8 EXON Missense_R772Q exm720999 8 131880138 [T/C] NM_001115 ADCY8 EXON Missense_V722I exm721006 8 131916032 [T/C] NM_001115 ADCY8 EXON Missense_V633M exm721009 8 131916098 [G/C] NM_001115 ADCY8 EXON Missense_R611G exm721013 8 131916182 [T/C] NM_001115 ADCY8 EXON Missense_E583K exm721032 8 131964118 [T/C] NM_001115 ADCY8 EXON Missense_V413I exm721038 8 131964235 [C/G] NM_001115 ADCY8 EXON Missense_V374L exm2270929 8 132007359 [T/C] NM_001115 ADCY8 Silent exm721069 8 132051922 [T/C] NM_001115 ADCY8 EXON Missense_T220A exm721071 8 132051958 [T/C] NM_001115 ADCY8 EXON Missense_M208V exm721073 8 132051970 [A/C] NM_001115 ADCY8 EXON Missense_A204S exm721081 8 132052251 [T/G] NM_001115 ADCY8 EXON Missense_P110Q exm721082 8 132052282 [T/C] NM_001115 ADCY8 EXON Missense_A100T exm721085 8 132052400 [T/G] NM_001115 ADCY8 EXON Missense_S60R exm2266693 8 132723844 [A/G] exm2271019 8 132765741 [T/C] exm721100 8 132952818 [T/C] NM_015137 EFR3A EXON Missense_P28L exm721118 8 132966167 [T/G] NM_015137 EFR3A EXON Missense_I197M exm2274330 8 132968017 [A/G] NM_015137 EFR3A EXON Missense_R214H exm721129 8 132971850 [A/T] NM_015137 EFR3A EXON Missense_K265N exm721138 8 132982785 [A/G] NM_015137 EFR3A EXON Missense_E352K exm2246460 8 132982803 [C/G] NM_015137 EFR3A EXON Missense_G358R exm2274331 8 132988364 [A/G] NM_015137 EFR3A EXON Missense_H417R exm721150 8 132991604 [T/A] NM_015137 EFR3A EXON Missense_D504V exm721159 8 132996525 [T/C] NM_015137 EFR3A EXON Missense_I572T exm721172 8 132999887 [T/C] NM_015137 EFR3A EXON Missense_S668L exm721173 8 132999907 [A/G] NM_015137 EFR3A EXON Missense_S675G exm721176 8 133008725 [A/G] NM_015137 EFR3A EXON Missense_N713S exm721177 8 133008730 [T/C] NM_015137 EFR3A EXON Missense_P715S exm721190 8 133015528 [A/G] NM_015137 EFR3A EXON Missense_I786V exm2163266 8 133036745 [T/G] NM_001080399 OC90 EXON Missense_P473T exm2246462 8 133036775 [A/G] NM_001080399 OC90 EXON Missense_R463W exm721203 8 133036777 [A/G] NM_001080399 OC90 EXON Missense_L462P exm721204 8 133036796 [T/C] NM_001080399 OC90 EXON Missense_G456S exm2258665 8 133036797 [A/G] NM_001080399 OC90 EXON Synonymous_L455L exm721206 8 133036823 [T/C] NM_001080399 OC90 EXON Missense_E447K exm721211 8 133036865 [A/G] NM_001080399 OC90 EXON Missense_P433S exm721239 8 133044200 [A/G] NM_001080399 OC90 EXON Missense_P320L exm721244 8 133045363 [A/G] NM_001080399 OC90 EXON Missense_L261P exm721245 8 133045372 [A/G] NM_001080399 OC90 EXON Missense_I258T exm721247 8 133045399 [A/G] NM_001080399 OC90 EXON Missense_I249T exm721253 8 133047070 [T/C] NM_001080399 OC90 EXON Missense_D231N exm721268 8 133051261 [G/C] NM_001080399 OC90 EXON Missense_F189L exm721270 8 133051350 [A/G] NM_001080399 OC90 EXON Missense_H160Y exm721272 8 133053309 [T/C] NM_001080399 OC90 EXON Missense_S147G exm721274 8 133053318 [T/C] NM_001080399 OC90 EXON Missense_N144D exm721282 8 133053823 [A/C] NM_001080399 OC90 EXON Missense_G98V exm721288 8 133056718 [T/C] NM_001080399 OC90 EXON Missense_G44E exm721301 8 133078133 [A/T] NM_001145095 HHLA1 EXON Missense_T518S exm721309 8 133089975 [A/G] NM_001145095 HHLA1 EXON Missense_L390S exm721314 8 133090092 [A/C] NM_001145095 HHLA1 EXON Missense_R351L exm721316 8 133090150 [T/C] NM_001145095 HHLA1 EXON Missense_V332M exm721319 8 133092122 [C/G] NM_001145095 HHLA1 EXON Missense_Q256H exm721320 8 133092138 [A/G] NM_001145095 HHLA1 EXON Missense_P251L exm-rs2014357 8 133103290 [T/C] NM_001145095 HHLA1 Silent exm2246465 8 133107823 [T/C] NM_001145095 HHLA1 EXON Missense_A131T exm2246466 8 133111140 [G/C] NM_001145095 HHLA1 EXON Missense_R90T exm721335 8 133112323 [T/C] NM_001145095 HHLA1 EXON Synonymous_T66T exm721351 8 133141636 [T/C] NM_004519,NM_001204824 KCNQ3,KCNQ3 EXON Missense_R831Q,Missense_R711Q exm721361 8 133141790 [A/G] NM_004519,NM_001204824 KCNQ3,KCNQ3 EXON Missense_R780C,Missense_R660C exm721362 8 133141798 [T/C] NM_004519,NM_001204824 KCNQ3,KCNQ3 EXON Missense_R777Q,Missense_R657Q exm721365 8 133141865 [T/C] NM_004519,NM_001204824 KCNQ3,KCNQ3 EXON Missense_D755N,Missense_D635N exm721367 8 133141960 [T/C] NM_004519,NM_001204824 KCNQ3,KCNQ3 EXON Missense_G723E,Missense_G603E exm721370 8 133141982 [G/C] NM_004519,NM_001204824 KCNQ3,KCNQ3 EXON Missense_D716H,Missense_D596H exm721371 8 133141984 [T/C] NM_004519,NM_001204824 KCNQ3,KCNQ3 EXON Missense_H715R,Missense_H595R exm721378 8 133142134 [A/G] NM_004519,NM_001204824 KCNQ3,KCNQ3 EXON Missense_S665L,Missense_S545L exm2258666 8 133142211 [A/G] NM_004519,NM_001204824 KCNQ3,KCNQ3 EXON Synonymous_L639L,Synonymous_L519L exm721388 8 133146616 [A/G] NM_004519,NM_001204824 KCNQ3,KCNQ3 EXON Missense_P574S,Missense_P454S exm721406 8 133152420 [T/C] NM_004519,NM_001204824 KCNQ3,KCNQ3 EXON Missense_G491R,Missense_G371R exm721442 8 133175736 [T/C] NM_004519,NM_001204824 KCNQ3,KCNQ3 EXON Missense_E414G,Missense_E294G exm-rs10956647 8 133202844 [A/G] NM_004519,NM_001204824 KCNQ3,KCNQ3 Silent,Silent exm2266694 8 133528075 [A/G] exm721482 8 133584558 [A/G] NM_012472,NR_073525 LRRC6,LRRC6 EXON Missense_I466T,Silent exm721484 8 133584564 [A/G] NM_012472,NR_073525 LRRC6,LRRC6 EXON Missense_P464L,Silent exm721485 8 133584612 [A/G] NM_012472,NR_073525 LRRC6,LRRC6 EXON Missense_I448T,Silent exm721495 8 133596005 [T/C] NM_012472,NR_073525 LRRC6,LRRC6 EXON Missense_G388S,Silent exm721499 8 133622443 [C/G] NM_012472,NR_073525 LRRC6,LRRC6 EXON Missense_T370R,Silent exm721500 8 133622456 [T/C] NM_012472,NR_073525 LRRC6,LRRC6 EXON Missense_K366E,Silent exm721510 8 133623596 [A/T] NM_012472,NR_073525 LRRC6,LRRC6 EXON Missense_S330T,Silent exm721512 8 133623608 [A/T] NM_012472,NR_073525 LRRC6,LRRC6 EXON Missense_Y326N,Silent exm721516 8 133627309 [T/C] NM_012472,NR_073525 LRRC6,LRRC6 EXON Missense_I317V,Silent exm2163357 8 133634908 [T/G] NM_012472,NR_073525 LRRC6,LRRC6 EXON Missense_P288H,Silent exm721519 8 133637635 [A/G] NM_012472,NR_073525 LRRC6,LRRC6 EXON Missense_L240S,Silent exm721520 8 133637659 [A/G] NM_012472,NR_073525 LRRC6,LRRC6 EXON Missense_T232I,Silent exm721524 8 133644995 [T/C] NM_012472,NR_073525 LRRC6,LRRC6 EXON Missense_N215S,Silent exm721529 8 133645065 [C/G] NM_012472,NR_073525 LRRC6,LRRC6 EXON Missense_Q192E,Silent exm721530 8 133645167 [A/C] NM_012472,NR_073525 LRRC6,LRRC6 EXON Missense_A158S,Silent exm721537 8 133669100 [T/C] NM_012472,NR_073525 LRRC6,LRRC6 EXON Missense_I78V,Silent exm721540 8 133673753 [T/C] NM_012472,NR_073525 LRRC6,LRRC6 EXON Missense_R44Q,Silent exm721545 8 133673853 [A/G] NM_012472,NR_073525 LRRC6,LRRC6 EXON Missense_R11W,Silent exm721547 8 133673857 [A/C] NM_012472,NR_073525 LRRC6,LRRC6 EXON Missense_I9M,Silent exm2266767 8 133690193 [A/G] exm2273451 8 133723192 [A/G] NM_001145153,NM_144649 TMEM71,TMEM71 EXON Silent,Silent exm2163382 8 133740053 [A/C] NM_001145153,NM_144649 TMEM71,TMEM71 EXON Silent,Missense_D204Y exm721579 8 133740229 [T/C] NM_001145153,NM_144649 TMEM71,TMEM71 EXON Silent,Missense_D145G exm721582 8 133759200 [A/C] NM_001145153,NM_144649 TMEM71,TMEM71 EXON Missense_C159G,Missense_C140G exm721585 8 133759243 [T/A] NM_001145153,NM_144649 TMEM71,TMEM71 EXON Missense_E144D,Missense_E125D exm721589 8 133764056 [T/C] NM_001145153,NM_144649 TMEM71,TMEM71 EXON Missense_V97I,Missense_V97I exm721592 8 133764083 [T/C] NM_001145153,NM_144649 TMEM71,TMEM71 EXON Missense_I88V,Missense_I88V exm721595 8 133764112 [T/C] NM_001145153,NM_144649 TMEM71,TMEM71 EXON Missense_D78G,Missense_D78G exm721596 8 133764160 [T/C] NM_001145153,NM_144649 TMEM71,TMEM71 EXON Missense_R62H,Missense_R62H exm721597 8 133764161 [A/G] NM_001145153,NM_144649 TMEM71,TMEM71 EXON Missense_R62C,Missense_R62C exm721599 8 133764214 [T/G] NM_001145153,NM_144649 TMEM71,TMEM71 EXON Missense_H44P,Missense_H44P exm721624 8 133811393 [T/C] NM_032205,NM_016018,NM_198513 PHF20L1,PHF20L1,PHF20L1 EXON Missense_S161L,Missense_S161L,Silent exm721636 8 133816235 [A/G] NM_032205,NM_016018,NM_198513 PHF20L1,PHF20L1,PHF20L1 EXON Missense_V227I,Missense_V227I,Missense_V201I exm721646 8 133826883 [T/C] NM_032205,NM_016018 PHF20L1,PHF20L1 EXON Missense_A311V,Missense_A311V exm721657 8 133829692 [A/G] NM_032205,NM_016018 PHF20L1,PHF20L1 EXON Missense_R494H,Missense_R494H exm2163419 8 133837293 [T/G] NM_032205,NM_016018 PHF20L1,PHF20L1 EXON Missense_W550C,Silent exm721667 8 133837328 [A/G] NM_032205,NM_016018 PHF20L1,PHF20L1 EXON Missense_Y562C,Silent exm721674 8 133844543 [A/G] NM_016018 PHF20L1 EXON Missense_R603Q exm721677 8 133844626 [A/G] NM_016018 PHF20L1 EXON Missense_V631I exm721689 8 133851677 [A/G] NM_016018 PHF20L1 EXON Missense_N746S exm721707 8 133855035 [C/G] NM_016018 PHF20L1 EXON Missense_S888T exm721711 8 133856413 [A/G] NM_016018 PHF20L1 EXON Missense_G921R exm721712 8 133856419 [A/T] NM_016018 PHF20L1 EXON Missense_T923S exm721732 8 133880375 [T/C] NM_003235 TG EXON Missense_A28V exm721743 8 133882026 [A/G] NM_003235 TG EXON Missense_G77S exm721744 8 133882032 [A/G] NM_003235 TG EXON Missense_E79K exm721746 8 133882059 [T/C] NM_003235 TG EXON Missense_R88W exm721753 8 133883671 [T/C] NM_003235 TG EXON Missense_P118L exm721755 8 133883734 [A/G] NM_003235 TG EXON Nonsense_W139X exm721757 8 133883773 [A/G] NM_003235 TG EXON Missense_R152H exm2274332 8 133885337 [A/G] NM_003235 TG EXON Missense_R170H exm721770 8 133885370 [A/C] NM_003235 TG EXON Missense_P181H exm721773 8 133885397 [T/C] NM_003235 TG EXON Missense_M190T exm721785 8 133894854 [T/C] NM_003235 TG EXON Nonsense_R296X exm721786 8 133894856 [A/G] NM_003235 TG EXON Synonymous_R296R exm721791 8 133895127 [T/C] NM_003235 TG EXON Missense_R320C exm721794 8 133895162 [G/C] NM_003235 TG EXON Missense_Q331H exm721796 8 133895209 [A/G] NM_003235 TG EXON Missense_H347R exm721803 8 133898884 [T/C] NM_003235 TG EXON Missense_R423C exm721805 8 133898890 [A/G] NM_003235 TG EXON Missense_M425V exm721807 8 133898942 [A/G] NM_003235 TG EXON Missense_E442G exm721808 8 133898947 [A/G] NM_003235 TG EXON Missense_I444V exm721819 8 133899160 [G/C] NM_003235 TG EXON Missense_Q515E exm721820 8 133899184 [T/C] NM_003235 TG EXON Missense_S523P exm721821 8 133899190 [A/G] NM_003235 TG EXON Missense_G525R exm721827 8 133899419 [T/C] NM_003235 TG EXON Missense_T601M exm721833 8 133899479 [T/C] NM_003235 TG EXON Missense_T621M exm721837 8 133899517 [A/G] NM_003235 TG EXON Missense_G634R exm721840 8 133899575 [A/G] NM_003235 TG EXON Missense_G653D exm721848 8 133899754 [A/G] NM_003235 TG EXON Missense_I713V exm721849 8 133899767 [A/G] NM_003235 TG EXON Missense_R717Q exm721856 8 133900351 [A/G] NM_003235 TG EXON Missense_G767R exm721859 8 133900382 [T/C] NM_003235 TG EXON Missense_P777L exm721863 8 133900495 [A/G] NM_003235 TG EXON Missense_G815R exm721869 8 133900613 [A/G] NM_003235 TG EXON Missense_R854Q exm721873 8 133900662 [T/G] NM_003235 TG EXON Missense_Q870H exm721877 8 133900771 [G/C] NM_003235 TG EXON Missense_E907Q exm721888 8 133905992 [A/C] NM_003235 TG EXON Missense_E940A exm721895 8 133906150 [A/G] NM_003235 TG EXON Missense_A993T exm721896 8 133906153 [A/G] NM_003235 TG EXON Missense_I994V exm721897 8 133906156 [T/C] NM_003235 TG EXON Missense_R995C exm721904 8 133909914 [T/C] NM_003235 TG EXON Missense_R1008C exm721910 8 133909927 [T/C] NM_003235 TG EXON Missense_P1012L exm721916 8 133909974 [A/G] NM_003235 TG EXON Missense_M1028V exm721924 8 133910423 [T/G] NM_003235 TG EXON Missense_W1050L exm721928 8 133910461 [A/C] NM_003235 TG EXON Missense_L1063M exm2163503 8 133910471 [A/G] NM_003235 TG EXON Missense_R1066H exm721934 8 133911138 [A/G] NM_003235 TG EXON Missense_V1105I exm721940 8 133912553 [G/C] NM_003235 TG EXON Missense_E1134D exm721951 8 133913747 [A/G] NM_003235 TG EXON Missense_G1195R exm721957 8 133918945 [T/C] NM_003235 TG EXON Missense_P1216L exm721962 8 133918963 [T/C] NM_003235 TG EXON Missense_S1222L exm721970 8 133919047 [T/G] NM_003235 TG EXON Missense_R1250L exm721973 8 133919074 [T/C] NM_003235 TG EXON Missense_P1259L exm721976 8 133919103 [A/G] NM_003235 TG EXON Missense_G1269R exm721980 8 133919145 [T/C] NM_003235 TG EXON Missense_R1283W exm721988 8 133920518 [A/G] NM_003235 TG EXON Missense_D1312G exm721990 8 133920566 [A/G] NM_003235 TG EXON Missense_R1328H exm721992 8 133920582 [C/G] NM_003235 TG EXON Missense_I1333M exm721995 8 133923633 [T/G] NM_003235 TG EXON Missense_F1338L exm721999 8 133923701 [A/G] NM_003235 TG EXON Missense_R1361H exm722002 8 133923712 [T/A] NM_003235 TG EXON Missense_N1365Y exm722010 8 133925324 [T/C] NM_003235 TG EXON Missense_R1398C exm722011 8 133925325 [A/G] NM_003235 TG EXON Missense_R1398H exm722015 8 133925400 [A/G] NM_003235 TG EXON Missense_R1423H exm722022 8 133925510 [A/G] NM_003235 TG EXON Missense_V1460I exm722026 8 133931723 [T/C] NM_003235 TG EXON Missense_P1494L exm722027 8 133931726 [T/C] NM_003235 TG EXON Missense_V1495A exm722028 8 133931735 [T/C] NM_003235 TG EXON Missense_T1498M exm722032 8 133931769 [T/C] NM_003235 TG EXON Synonymous_H1509H exm722034 8 133935591 [T/G] NM_003235 TG EXON Missense_D1513Y exm2258670 8 133935617 [A/G] NM_003235 TG EXON Synonymous_L1521L exm722035 8 133935642 [T/C] NM_003235 TG EXON Nonsense_R1530X exm722036 8 133935643 [A/G] NM_003235 TG EXON Missense_R1530Q exm722040 8 133941359 [T/A] NM_003235 TG EXON Missense_I1580F exm2163546 8 133945848 [T/C] NM_003235 TG EXON Missense_T1620M exm722054 8 133945851 [A/C] NM_003235 TG EXON Missense_T1621K exm722061 8 133948058 [A/G] NM_003235 TG EXON Missense_V1664M exm722065 8 133953673 [T/C] NM_003235 TG EXON Missense_P1707S exm722067 8 133953676 [A/G] NM_003235 TG EXON Missense_I1708V exm722073 8 133953740 [A/C] NM_003235 TG EXON Missense_D1729A exm2246480 8 133953766 [A/G] NM_003235 TG EXON Missense_V1738I exm722075 8 133953773 [A/C] NM_003235 TG EXON Missense_T1740K exm722083 8 133961157 [A/G] NM_003235 TG EXON Missense_I1790M exm722085 8 133961162 [A/G] NM_003235 TG EXON Missense_R1792H exm722096 8 133975256 [T/C] NM_003235 TG EXON Missense_R1829W exm722098 8 133975283 [A/G] NM_003235 TG EXON Missense_D1838N exm2163570 8 133980143 [A/G] NM_003235 TG EXON Missense_I1931V exm722113 8 133980207 [A/G] NM_003235 TG EXON Missense_R1952Q exm722115 8 133980214 [A/G] NM_003235 TG EXON Synonymous_K1954K exm722117 8 133981702 [A/G] NM_003235 TG Silent exm722120 8 133981760 [T/C] NM_003235 TG EXON Missense_M1974T exm722121 8 133984047 [A/G] NM_003235 TG EXON Missense_E1995G exm722122 8 133984058 [T/C] NM_003235 TG EXON Missense_R1999W exm722123 8 133984064 [A/G] NM_003235 TG EXON Missense_D2001N exm722130 8 133984968 [A/G] NM_003235 TG EXON Missense_G2061R exm722132 8 133984978 [A/G] NM_003235 TG EXON Missense_Q2064R exm722138 8 134024155 [A/G] NM_003235 TG EXON Missense_D2091G exm722139 8 134024158 [T/C] NM_003235 TG EXON Missense_S2092L exm722142 8 134024268 [G/C] NM_003235 TG EXON Missense_L2129V exm722144 8 134024278 [T/C] NM_003235 TG EXON Missense_S2132L exm722152 8 134030025 [A/G] NM_003235 TG EXON Missense_I2189V exm722154 8 134030065 [G/C] NM_003235 TG EXON Missense_P2202R exm722159 8 134030106 [A/G] NM_003235 TG EXON Missense_I2216V exm722165 8 134030229 [A/G] NM_003235 TG EXON Missense_A2257T exm722170 8 134034245 [A/G] NM_003235 TG EXON Missense_A2296T exm722173 8 134034311 [A/G] NM_003235 TG EXON Missense_D2318N exm722186 8 134042164 [T/C] NM_003235 TG EXON Missense_R2379C exm722189 8 134042186 [A/G] NM_003235 TG EXON Missense_R2386H exm722197 8 134050854 [T/C] NM_003235,NM_001045557,NM_001045556,NM_006748 TG,SLA,SLA,SLA EXON Silent,Missense_R266Q,Missense_R249Q,Missense_R289Q exm722211 8 134052321 [A/G] NM_003235,NM_001045557,NM_001045556,NM_006748 TG,SLA,SLA,SLA EXON Silent,Missense_T197M,Missense_T180M,Missense_T220M exm722231 8 134063091 [T/C] NM_003235,NM_001045557,NM_001045556,NM_006748 TG,SLA,SLA,SLA EXON Silent,Missense_R61H,Missense_R44H,Missense_R84H exm722237 8 134063149 [T/C] NM_003235,NM_001045557,NM_001045556,NM_006748 TG,SLA,SLA,SLA EXON Silent,Missense_D42N,Missense_D25N,Missense_D65N exm722239 8 134072363 [T/G] NM_003235,NM_001045557,NM_001045556,NM_006748 TG,SLA,SLA,SLA EXON Silent,Missense_P32T,Missense_P15T,Missense_P55T exm722249 8 134107297 [A/G] NM_003235,NM_001045557,NM_001045556 TG,SLA,SLA EXON Missense_A2417T,Silent,Silent exm722252 8 134107312 [A/G] NM_003235,NM_001045557,NM_001045556 TG,SLA,SLA EXON Missense_A2422T,Silent,Silent exm722254 8 134107319 [A/T] NM_003235,NM_001045557,NM_001045556 TG,SLA,SLA EXON Missense_I2424N,Silent,Silent exm722257 8 134107411 [T/C] NM_003235,NM_001045557,NM_001045556 TG,SLA,SLA EXON Missense_R2455C,Silent,Silent exm2246482 8 134107412 [A/G] NM_003235,NM_001045557,NM_001045556 TG,SLA,SLA EXON Missense_R2455H,Silent,Silent exm2163628 8 134107420 [T/C] NM_003235,NM_001045557,NM_001045556 TG,SLA,SLA EXON Missense_P2458S,Silent,Silent exm722268 8 134108546 [T/C] NM_003235,NM_001045557,NM_001045556 TG,SLA,SLA EXON Missense_W2501R,Silent,Silent exm722275 8 134114798 [A/G] NM_003235,NM_001045557,NM_001045556 TG,SLA,SLA EXON Silent,Missense_R4W,Silent exm722278 8 134125671 [A/T] NM_003235 TG EXON Missense_F2526L exm722279 8 134125682 [A/G] NM_003235 TG EXON Missense_R2530Q exm722283 8 134125741 [A/G] NM_003235 TG EXON Missense_E2550K exm722291 8 134125802 [T/C] NM_003235 TG EXON Missense_T2570M exm722296 8 134125846 [T/C] NM_003235 TG EXON Missense_R2585W exm722297 8 134125847 [A/G] NM_003235 TG EXON Missense_R2585Q exm722302 8 134128945 [A/G] NM_003235 TG EXON Missense_N2616S exm722318 8 134145833 [A/G] NM_003235 TG EXON Missense_N2706S exm722321 8 134145863 [T/C] NM_003235 TG EXON Missense_S2716F exm-rs10505605 8 134195457 [A/G] exm722335 8 134203425 [T/C] NM_003882,NM_080838,NM_001204869,NM_001204870,NR_037944 WISP1,WISP1,WISP1,WISP1,WISP1 EXON Missense_T13I,Missense_T13I,Missense_T13I,Missense_T13I,Silent exm2270930 8 134225068 [T/C] NM_003882,NM_080838,NM_001204869,NM_001204870,NR_037944 WISP1,WISP1,WISP1,WISP1,WISP1 Silent,Silent,Silent,Silent,Silent exm722350 8 134225275 [A/G] NM_003882,NM_080838,NM_001204869,NM_001204870,NR_037944 WISP1,WISP1,WISP1,WISP1,WISP1 EXON Missense_A80T,Missense_A80T,Missense_A80T,Silent,Silent exm722351 8 134225290 [A/G] NM_003882,NM_080838,NM_001204869,NM_001204870,NR_037944 WISP1,WISP1,WISP1,WISP1,WISP1 EXON Missense_D85N,Missense_D85N,Missense_D85N,Silent,Silent exm2258671 8 134225334 [T/C] NM_003882,NM_080838,NM_001204869,NM_001204870,NR_037944 WISP1,WISP1,WISP1,WISP1,WISP1 EXON Synonymous_L99L,Synonymous_L99L,Synonymous_L99L,Silent,Silent exm722358 8 134232908 [T/C] NM_003882,NM_080838,NM_001204869,NM_001204870,NR_037944 WISP1,WISP1,WISP1,WISP1,WISP1 EXON Missense_T145M,Silent,Silent,Silent,Silent exm722360 8 134232938 [T/C] NM_003882,NM_080838,NM_001204869,NM_001204870,NR_037944 WISP1,WISP1,WISP1,WISP1,WISP1 EXON Missense_P155L,Silent,Silent,Silent,Silent exm722361 8 134232950 [A/G] NM_003882,NM_080838,NM_001204869,NM_001204870,NR_037944 WISP1,WISP1,WISP1,WISP1,WISP1 EXON Missense_R159Q,Silent,Silent,Silent,Silent exm722363 8 134232956 [A/G] NM_003882,NM_080838,NM_001204869,NM_001204870,NR_037944 WISP1,WISP1,WISP1,WISP1,WISP1 EXON Missense_R161H,Silent,Silent,Silent,Silent exm722366 8 134232983 [T/C] NM_003882,NM_080838,NM_001204869,NM_001204870,NR_037944 WISP1,WISP1,WISP1,WISP1,WISP1 EXON Missense_P170L,Silent,Silent,Silent,Silent exm722372 8 134232991 [A/G] NM_003882,NM_080838,NM_001204869,NM_001204870,NR_037944 WISP1,WISP1,WISP1,WISP1,WISP1 EXON Missense_V173M,Silent,Silent,Silent,Silent exm722373 8 134233024 [A/G] NM_003882,NM_080838,NM_001204869,NM_001204870,NR_037944 WISP1,WISP1,WISP1,WISP1,WISP1 EXON Missense_V184I,Silent,Silent,Silent,Silent exm722375 8 134233039 [A/G] NM_003882,NM_080838,NM_001204869,NM_001204870,NR_037944 WISP1,WISP1,WISP1,WISP1,WISP1 EXON Missense_A189T,Silent,Silent,Silent,Silent exm722377 8 134233060 [A/G] NM_003882,NM_080838,NM_001204869,NM_001204870,NR_037944 WISP1,WISP1,WISP1,WISP1,WISP1 EXON Missense_A196T,Silent,Silent,Silent,Silent exm722380 8 134237635 [T/G] NM_003882,NM_080838,NM_001204869,NM_001204870,NR_037944 WISP1,WISP1,WISP1,WISP1,WISP1 EXON Missense_A205S,Missense_A118S,Silent,Silent,Silent exm722385 8 134237713 [A/G] NM_003882,NM_080838,NM_001204869,NM_001204870,NR_037944 WISP1,WISP1,WISP1,WISP1,WISP1 EXON Missense_G231S,Missense_G144S,Silent,Silent,Silent exm722390 8 134237792 [A/G] NM_003882,NM_080838,NM_001204869,NM_001204870,NR_037944 WISP1,WISP1,WISP1,WISP1,WISP1 EXON Missense_R257Q,Missense_R170Q,Silent,Silent,Silent exm722391 8 134237800 [A/G] NM_003882,NM_080838,NM_001204869,NM_001204870,NR_037944 WISP1,WISP1,WISP1,WISP1,WISP1 EXON Missense_D260N,Missense_D173N,Silent,Silent,Silent exm722394 8 134239704 [T/C] NM_003882,NM_080838,NM_001204869,NM_001204870,NR_037944 WISP1,WISP1,WISP1,WISP1,WISP1 EXON Synonymous_F285F,Synonymous_F198F,Missense_H134Y,Synonymous_F40F,Silent exm722395 8 134239713 [A/G] NM_003882,NM_080838,NM_001204869,NM_001204870,NR_037944 WISP1,WISP1,WISP1,WISP1,WISP1 EXON Synonymous_A288A,Synonymous_A201A,Missense_G137R,Synonymous_A43A,Silent exm722399 8 134239746 [A/G] NM_003882,NM_080838,NM_001204869,NM_001204870,NR_037944 WISP1,WISP1,WISP1,WISP1,WISP1 EXON Synonymous_K299K,Synonymous_K212K,Missense_V148I,Synonymous_K54K,Silent exm722400 8 134239770 [T/C] NM_003882,NM_080838,NM_001204869,NM_001204870,NR_037944 WISP1,WISP1,WISP1,WISP1,WISP1 EXON Synonymous_N307N,Synonymous_N220N,Missense_X156Q,Synonymous_N62N,Silent exm722403 8 134239819 [T/C] NM_003882,NM_080838,NM_001204869,NM_001204870,NR_037944 WISP1,WISP1,WISP1,WISP1,WISP1 EXON Missense_C324R,Missense_C237R,Silent,Missense_C79R,Silent exm2258672 8 134239854 [A/G] NM_003882,NM_080838,NM_001204869,NM_001204870,NR_037944 WISP1,WISP1,WISP1,WISP1,WISP1 EXON Synonymous_L335L,Synonymous_L248L,Silent,Synonymous_L90L,Silent exm722452 8 134262695 [T/C] NM_001258432,NM_001135242,NM_006096,NM_001258433 NDRG1,NDRG1,NDRG1,NDRG1 EXON Missense_N163S,Missense_N229S,Missense_N229S,Missense_N148S exm722454 8 134262721 [T/G] NM_001258432,NM_001135242,NM_006096,NM_001258433 NDRG1,NDRG1,NDRG1,NDRG1 EXON Missense_N154K,Missense_N220K,Missense_N220K,Missense_N139K exm2163698 8 134262747 [A/G] NM_001258432,NM_001135242,NM_006096,NM_001258433 NDRG1,NDRG1,NDRG1,NDRG1 EXON Missense_R146C,Missense_R212C,Missense_R212C,Missense_R131C exm722456 8 134262768 [T/C] NM_001258432,NM_001135242,NM_006096,NM_001258433 NDRG1,NDRG1,NDRG1,NDRG1 EXON Missense_V139M,Missense_V205M,Missense_V205M,Missense_V124M exm722461 8 134270611 [A/C] NM_001258432,NM_001135242,NM_006096,NM_001258433 NDRG1,NDRG1,NDRG1,NDRG1 EXON Missense_A84S,Missense_A150S,Missense_A150S,Missense_A69S exm722476 8 134276796 [T/C] NM_001258432,NM_001135242,NM_006096,NM_001258433 NDRG1,NDRG1,NDRG1,NDRG1 EXON Missense_M1V,Missense_M67V,Missense_M67V,Silent exm722478 8 134276828 [T/C] NM_001258432,NM_001135242,NM_006096,NM_001258433 NDRG1,NDRG1,NDRG1,NDRG1 EXON Silent,Missense_R56Q,Missense_R56Q,Silent exm722479 8 134276830 [A/G] NM_001258432,NM_001135242,NM_006096,NM_001258433 NDRG1,NDRG1,NDRG1,NDRG1 EXON Silent,Synonymous_N55N,Synonymous_N55N,Silent exm722484 8 134276873 [T/C] NM_001258432,NM_001135242,NM_006096,NM_001258433 NDRG1,NDRG1,NDRG1,NDRG1 EXON Silent,Missense_H41R,Missense_H41R,Silent exm722485 8 134276886 [A/T] NM_001258432,NM_001135242,NM_006096,NM_001258433 NDRG1,NDRG1,NDRG1,NDRG1 EXON Silent,Missense_I37F,Missense_I37F,Silent exm722494 8 134296524 [T/C] NM_001258432,NM_001135242,NM_006096,NM_001258433 NDRG1,NDRG1,NDRG1,NDRG1 EXON Silent,Missense_A11T,Missense_A11T,Silent exm722533 8 134478233 [A/G] NM_003033,NM_173344 ST3GAL1,ST3GAL1 EXON Missense_S136L,Missense_S136L exm722535 8 134478308 [T/C] NM_003033,NM_173344 ST3GAL1,ST3GAL1 EXON Missense_N111S,Missense_N111S exm722542 8 134487996 [A/G] NM_003033,NM_173344 ST3GAL1,ST3GAL1 EXON Missense_A91V,Missense_A91V exm722555 8 134488221 [A/C] NM_003033,NM_173344 ST3GAL1,ST3GAL1 EXON Missense_V16G,Missense_V16G exm2270931 8 134518133 [T/C] NM_003033,NM_173344 ST3GAL1,ST3GAL1 Silent,Silent exm2266768 8 134901186 [A/G] exm2264306 8 135005442 [A/C] exm2264324 8 135346972 [A/C] exm722559 8 135490774 [A/G] NM_001174158,NM_020863,NM_001174157,NM_001029939,NM_001167583 ZFAT,ZFAT,ZFAT,ZFAT,ZFAT EXON Missense_M1130T,Missense_M1228T,Missense_M1166T,Missense_M1216T,Missense_M1216T exm722561 8 135490814 [T/C] NM_001174158,NM_020863,NM_001174157,NM_001029939,NM_001167583 ZFAT,ZFAT,ZFAT,ZFAT,ZFAT EXON Missense_G1117R,Missense_G1215R,Missense_G1153R,Missense_G1203R,Missense_G1203R exm2270932 8 135494742 [T/C] NM_001174158,NM_020863,NM_001174157,NM_001029939,NM_001167583 ZFAT,ZFAT,ZFAT,ZFAT,ZFAT Silent,Silent,Silent,Silent,Silent exm722578 8 135521990 [T/C] NM_001174158,NM_020863,NM_001174157,NM_001029939,NM_001167583 ZFAT,ZFAT,ZFAT,ZFAT,ZFAT EXON Silent,Missense_D1122N,Missense_D1060N,Missense_D1110N,Missense_D1110N exm722579 8 135521991 [A/G] NM_001174158,NM_020863,NM_001174157,NM_001029939,NM_001167583 ZFAT,ZFAT,ZFAT,ZFAT,ZFAT EXON Silent,Synonymous_G1121G,Synonymous_G1059G,Synonymous_G1109G,Synonymous_G1109G exm722583 8 135524787 [T/C] NM_001174158,NM_020863,NM_001174157,NM_001029939,NM_001167583 ZFAT,ZFAT,ZFAT,ZFAT,ZFAT EXON Silent,Missense_E1098K,Missense_E1036K,Missense_E1086K,Missense_E1086K exm2163774 8 135577628 [A/G] NM_001174158,NM_020863,NM_001174157,NM_001029939,NM_001167583 ZFAT,ZFAT,ZFAT,ZFAT,ZFAT EXON Missense_A963V,Missense_A975V,Missense_A913V,Missense_A963V,Missense_A963V exm722606 8 135602591 [T/C] NM_001174158,NM_020863,NM_001174157,NM_001029939,NM_001167583 ZFAT,ZFAT,ZFAT,ZFAT,ZFAT EXON Missense_R816K,Missense_R828K,Missense_R766K,Missense_R816K,Missense_R816K exm-rs1036819 8 135611945 [A/C] NM_001174158,NM_020863,NM_001174157,NM_001029939,NM_001167583,NR_002438 ZFAT,ZFAT,ZFAT,ZFAT,ZFAT,ZFAT-AS1 Silent,Silent,Silent,Silent,Silent,Silent exm722624 8 135613836 [T/C] NM_001174158,NM_020863,NM_001174157,NM_001029939,NM_001167583 ZFAT,ZFAT,ZFAT,ZFAT,ZFAT EXON Missense_R697Q,Missense_R709Q,Missense_R647Q,Missense_R697Q,Missense_R697Q exm722630 8 135613947 [T/C] NM_001174158,NM_020863,NM_001174157,NM_001029939,NM_001167583 ZFAT,ZFAT,ZFAT,ZFAT,ZFAT EXON Missense_R660K,Missense_R672K,Missense_R610K,Missense_R660K,Missense_R660K exm722640 8 135614146 [T/C] NM_001174158,NM_020863,NM_001174157,NM_001029939,NM_001167583 ZFAT,ZFAT,ZFAT,ZFAT,ZFAT EXON Missense_A594T,Missense_A606T,Missense_A544T,Missense_A594T,Missense_A594T exm722644 8 135614221 [T/C] NM_001174158,NM_020863,NM_001174157,NM_001029939,NM_001167583 ZFAT,ZFAT,ZFAT,ZFAT,ZFAT EXON Missense_V569M,Missense_V581M,Missense_V519M,Missense_V569M,Missense_V569M exm722646 8 135614230 [T/C] NM_001174158,NM_020863,NM_001174157,NM_001029939,NM_001167583 ZFAT,ZFAT,ZFAT,ZFAT,ZFAT EXON Missense_E566K,Missense_E578K,Missense_E516K,Missense_E566K,Missense_E566K exm722651 8 135614326 [A/G] NM_001174158,NM_020863,NM_001174157,NM_001029939,NM_001167583 ZFAT,ZFAT,ZFAT,ZFAT,ZFAT EXON Missense_R534W,Missense_R546W,Missense_R484W,Missense_R534W,Missense_R534W exm722659 8 135614553 [G/C] NM_001174158,NM_020863,NM_001174157,NM_001029939,NM_001167583 ZFAT,ZFAT,ZFAT,ZFAT,ZFAT EXON Missense_S458C,Missense_S470C,Missense_S408C,Missense_S458C,Missense_S458C exm2258677 8 135614561 [A/G] NM_001174158,NM_020863,NM_001174157,NM_001029939,NM_001167583 ZFAT,ZFAT,ZFAT,ZFAT,ZFAT EXON Synonymous_F455F,Synonymous_F467F,Synonymous_F405F,Synonymous_F455F,Synonymous_F455F exm722661 8 135614571 [T/C] NM_001174158,NM_020863,NM_001174157,NM_001029939,NM_001167583 ZFAT,ZFAT,ZFAT,ZFAT,ZFAT EXON Missense_R452H,Missense_R464H,Missense_R402H,Missense_R452H,Missense_R452H exm722678 8 135614835 [A/G] NM_001174158,NM_020863,NM_001174157,NM_001029939,NM_001167583 ZFAT,ZFAT,ZFAT,ZFAT,ZFAT EXON Missense_A364V,Missense_A376V,Missense_A314V,Missense_A364V,Missense_A364V exm722681 8 135614893 [A/G] NM_001174158,NM_020863,NM_001174157,NM_001029939,NM_001167583 ZFAT,ZFAT,ZFAT,ZFAT,ZFAT EXON Missense_R345C,Missense_R357C,Missense_R295C,Missense_R345C,Missense_R345C exm722683 8 135614908 [T/C] NM_001174158,NM_020863,NM_001174157,NM_001029939,NM_001167583 ZFAT,ZFAT,ZFAT,ZFAT,ZFAT EXON Missense_I340V,Missense_I352V,Missense_I290V,Missense_I340V,Missense_I340V exm2163800 8 135614977 [T/C] NM_001174158,NM_020863,NM_001174157,NM_001029939,NM_001167583 ZFAT,ZFAT,ZFAT,ZFAT,ZFAT EXON Missense_D317N,Missense_D329N,Missense_D267N,Missense_D317N,Missense_D317N exm722705 8 135622763 [A/G] NM_001174158,NM_020863,NM_001174157,NM_001029939,NM_001167583 ZFAT,ZFAT,ZFAT,ZFAT,ZFAT EXON Missense_A183V,Missense_A195V,Silent,Missense_A183V,Missense_A183V exm722706 8 135622827 [A/G] NM_001174158,NM_020863,NM_001174157,NM_001029939,NM_001167583 ZFAT,ZFAT,ZFAT,ZFAT,ZFAT EXON Missense_R162W,Missense_R174W,Silent,Missense_R162W,Missense_R162W exm722708 8 135622832 [G/C] NM_001174158,NM_020863,NM_001174157,NM_001029939,NM_001167583 ZFAT,ZFAT,ZFAT,ZFAT,ZFAT EXON Missense_R160T,Missense_R172T,Silent,Missense_R160T,Missense_R160T exm722709 8 135622851 [A/G] NM_001174158,NM_020863,NM_001174157,NM_001029939,NM_001167583 ZFAT,ZFAT,ZFAT,ZFAT,ZFAT EXON Missense_R154W,Missense_R166W,Silent,Missense_R154W,Missense_R154W exm-rs12680655 8 135637337 [G/C] NM_001174158,NM_020863,NM_001174157,NM_001029939,NM_001167583 ZFAT,ZFAT,ZFAT,ZFAT,ZFAT Silent,Silent,Silent,Silent,Silent exm722713 8 135649710 [C/G] NM_001174158,NM_020863,NM_001174157,NM_001029939,NM_001167583 ZFAT,ZFAT,ZFAT,ZFAT,ZFAT EXON Missense_E136Q,Missense_E148Q,Missense_E148Q,Missense_E136Q,Missense_E136Q exm2163805 8 135649769 [A/G] NM_001174158,NM_020863,NM_001174157,NM_001029939,NM_001167583 ZFAT,ZFAT,ZFAT,ZFAT,ZFAT EXON Missense_T116M,Missense_T128M,Missense_T128M,Missense_T116M,Missense_T116M exm722718 8 135649838 [A/G] NM_001174158,NM_020863,NM_001174157,NM_001029939,NM_001167583 ZFAT,ZFAT,ZFAT,ZFAT,ZFAT EXON Missense_P93L,Missense_P105L,Missense_P105L,Missense_P93L,Missense_P93L exm722719 8 135649848 [A/G] NM_001174158,NM_020863,NM_001174157,NM_001029939,NM_001167583 ZFAT,ZFAT,ZFAT,ZFAT,ZFAT EXON Missense_P90S,Missense_P102S,Missense_P102S,Missense_P90S,Missense_P90S exm2258678 8 135649867 [T/C] NM_001174158,NM_020863,NM_001174157,NM_001029939,NM_001167583 ZFAT,ZFAT,ZFAT,ZFAT,ZFAT EXON Synonymous_V83V,Synonymous_V95V,Synonymous_V95V,Synonymous_V83V,Synonymous_V83V exm722732 8 135669810 [T/C] NM_001174158,NM_020863,NM_001174157,NM_001029939,NM_001167583 ZFAT,ZFAT,ZFAT,ZFAT,ZFAT EXON Missense_G52R,Missense_G64R,Missense_G64R,Missense_G52R,Missense_G52R exm722735 8 135669889 [T/G] NM_001174158,NM_020863,NM_001174157,NM_001029939,NM_001167583 ZFAT,ZFAT,ZFAT,ZFAT,ZFAT EXON Missense_E25D,Missense_E37D,Missense_E37D,Missense_E25D,Missense_E25D exm2246489 8 135669924 [T/C] NM_001174158,NM_020863,NM_001174157,NM_001029939,NM_001167583 ZFAT,ZFAT,ZFAT,ZFAT,ZFAT EXON Missense_E14K,Missense_E26K,Missense_E26K,Missense_E14K,Missense_E14K exm2270933 8 135796966 [T/C] exm2271020 8 136176400 [T/G] exm722781 8 136657324 [A/G] NM_006558 KHDRBS3 EXON Missense_G305R exm722791 8 136659295 [A/G] NM_006558 KHDRBS3 EXON Missense_V337I exm722792 8 136659305 [A/C] NM_006558 KHDRBS3 EXON Missense_D340A exm-rs4243849 8 136713137 [A/G] exm2266695 8 136770912 [A/G] exm-rs12680546 8 136871739 [A/G] exm2266769 8 137419150 [A/G] exm2258682 8 137493215 [A/G] exm-rs2582454 8 137817574 [T/C] exm2262436 8 138325276 [A/G] exm2270935 8 138467144 [T/C] exm-rs2705293 8 138918945 [T/C] exm-rs6997563 8 139039589 [A/G] exm722835 8 139160764 [A/G] NM_015912 FAM135B EXON Synonymous_D1149D exm722836 8 139160787 [T/C] NM_015912 FAM135B EXON Missense_V1142I exm722843 8 139163470 [A/G] NM_015912 FAM135B EXON Missense_T1083M exm722860 8 139163791 [A/G] NM_015912 FAM135B EXON Missense_P976L exm722865 8 139163966 [A/G] NM_015912 FAM135B EXON Missense_L918F exm722871 8 139164067 [T/C] NM_015912 FAM135B EXON Missense_R884H exm722872 8 139164068 [A/G] NM_015912 FAM135B EXON Missense_R884C exm722873 8 139164092 [T/C] NM_015912 FAM135B EXON Missense_K876E exm722875 8 139164161 [T/C] NM_015912 FAM135B EXON Missense_K853E exm722877 8 139164185 [T/C] NM_015912 FAM135B EXON Missense_I845V exm722881 8 139164211 [A/G] NM_015912 FAM135B EXON Missense_A836V exm722885 8 139164302 [C/G] NM_015912 FAM135B EXON Missense_Q806E exm722899 8 139164587 [A/G] NM_015912 FAM135B EXON Missense_R711W exm722911 8 139164850 [T/C] NM_015912 FAM135B EXON Missense_D623G exm722916 8 139164956 [T/C] NM_015912 FAM135B EXON Missense_D588N exm722918 8 139164985 [T/C] NM_015912 FAM135B EXON Missense_S578N exm722929 8 139165139 [T/C] NM_015912 FAM135B EXON Missense_G527R exm722930 8 139165177 [A/G] NM_015912 FAM135B EXON Missense_P514L exm722937 8 139165273 [A/G] NM_015912 FAM135B EXON Missense_P482L exm722938 8 139165289 [T/C] NM_015912 FAM135B EXON Missense_I477V exm722941 8 139165342 [T/C] NM_015912 FAM135B EXON Missense_D459G exm722947 8 139165456 [T/C] NM_015912 FAM135B EXON Missense_H421R exm722948 8 139165458 [T/C] NM_015912 FAM135B EXON Synonymous_G420G exm722975 8 139209815 [T/C] NM_015912 FAM135B EXON Missense_R256H exm722977 8 139209824 [T/C] NM_015912 FAM135B EXON Missense_R253Q exm2258687 8 139209832 [A/G] NM_015912 FAM135B EXON Synonymous_H250H exm2266698 8 139215691 [A/G] NM_015912 FAM135B Silent exm722995 8 139263124 [T/C] NM_015912 FAM135B EXON Missense_V168I exm722997 8 139263157 [T/C] NM_015912 FAM135B EXON Missense_D157N exm723013 8 139277953 [T/C] NM_015912 FAM135B EXON Missense_G97D exm-rs10109439 8 139307961 [A/G] NM_015912 FAM135B Silent exm2258688 8 139356716 [T/C] NM_015912 FAM135B Silent exm723028 8 139601518 [A/G] NM_152888 COL22A1 EXON Missense_P1620L exm723035 8 139601635 [A/G] NM_152888 COL22A1 EXON Missense_P1581L exm723037 8 139601669 [T/G] NM_152888 COL22A1 EXON Missense_P1570T exm723052 8 139606406 [A/G] NM_152888 COL22A1 EXON Missense_A1490V exm723053 8 139606427 [T/A] NM_152888 COL22A1 EXON Missense_L1483H exm723081 8 139626111 [A/G] NM_152888 COL22A1 EXON Missense_P1326L exm723098 8 139635975 [T/C] NM_152888 COL22A1 EXON Synonymous_P1257P exm723106 8 139642960 [A/G] NM_152888 COL22A1 EXON Missense_P1214L exm723108 8 139642975 [A/G] NM_152888 COL22A1 EXON Missense_A1209V exm723117 8 139649022 [T/C] NM_152888 COL22A1 EXON Missense_R1173H exm723126 8 139662020 [A/T] NM_152888 COL22A1 EXON Missense_D1112V exm723127 8 139662021 [T/C] NM_152888 COL22A1 EXON Missense_D1112N exm2246492 8 139668184 [A/G] NM_152888 COL22A1 EXON Missense_L1097F exm723139 8 139672698 [T/C] NM_152888 COL22A1 EXON Missense_R1089K exm723141 8 139672708 [G/C] NM_152888 COL22A1 EXON Missense_P1086A exm723144 8 139674277 [T/C] NM_152888 COL22A1 EXON Missense_R1079Q exm2163962 8 139675949 [A/G] NM_152888 COL22A1 EXON Missense_P1062L exm2163964 8 139688801 [A/G] NM_152888 COL22A1 EXON Synonymous_P1050P exm723152 8 139688835 [T/C] NM_152888 COL22A1 EXON Missense_R1039H exm723153 8 139688836 [A/G] NM_152888 COL22A1 EXON Missense_R1039C exm723158 8 139691879 [A/G] NM_152888 COL22A1 EXON Missense_L1018P exm723159 8 139691910 [T/C] NM_152888 COL22A1 EXON Missense_G1008R exm723160 8 139691919 [A/C] NM_152888 COL22A1 EXON Missense_A1005S exm723165 8 139696705 [T/C] NM_152888 COL22A1 EXON Missense_R992H exm723176 8 139701173 [T/G] NM_152888 COL22A1 EXON Missense_E950A exm723179 8 139701209 [T/G] NM_152888 COL22A1 EXON Missense_A938D exm723190 8 139706791 [T/C] NM_152888 COL22A1 EXON Missense_R887H exm723198 8 139712355 [A/G] NM_152888 COL22A1 EXON Synonymous_P864P exm723200 8 139712362 [T/C] NM_152888 COL22A1 EXON Missense_R862Q exm723207 8 139727972 [T/C] NM_152888 COL22A1 EXON Missense_K824E exm723222 8 139734292 [A/G] NM_152888 COL22A1 EXON Missense_P763L exm723235 8 139736897 [A/C] NM_152888 COL22A1 EXON Missense_E736D exm723236 8 139736901 [C/G] NM_152888 COL22A1 EXON Missense_G735A exm723249 8 139763730 [T/C] NM_152888 COL22A1 EXON Missense_D686N exm2246495 8 139767402 [A/G] NM_152888 COL22A1 EXON Missense_R677W exm723268 8 139774684 [A/G] NM_152888 COL22A1 EXON Missense_P610L exm723275 8 139791753 [T/C] NM_152888 COL22A1 EXON Missense_R568Q exm723276 8 139791754 [A/G] NM_152888 COL22A1 EXON Missense_R568W exm2276031 8 139793199 [C/G] NM_152888 COL22A1 EXON Missense_P541A exm723290 8 139809074 [T/G] NM_152888 COL22A1 EXON Missense_E528D exm723297 8 139815117 [T/C] NM_152888 COL22A1 EXON Missense_V519M exm2164030 8 139815167 [T/C] NM_152888 COL22A1 EXON Missense_G502E exm723300 8 139815174 [C/G] NM_152888 COL22A1 EXON Missense_D500H exm723309 8 139824115 [T/C] NM_152888 COL22A1 EXON Missense_R459Q exm723316 8 139825220 [T/C] NM_152888 COL22A1 EXON Missense_A430T exm723322 8 139833379 [A/G] NM_152888 COL22A1 EXON Synonymous_D415D exm723323 8 139833387 [A/G] NM_152888 COL22A1 EXON Missense_P413S exm723328 8 139833476 [A/G] NM_152888 COL22A1 EXON Missense_A383V exm2164038 8 139833498 [T/C] NM_152888 COL22A1 EXON Missense_V376I exm723330 8 139833539 [T/C] NM_152888 COL22A1 EXON Missense_R362Q exm723334 8 139833561 [A/G] NM_152888 COL22A1 EXON Missense_R355W exm2164040 8 139833569 [T/C] NM_152888 COL22A1 EXON Missense_R352Q exm723337 8 139833618 [T/C] NM_152888 COL22A1 EXON Missense_E336K exm723343 8 139838912 [T/C] NM_152888 COL22A1 EXON Missense_S320G exm723347 8 139838971 [T/C] NM_152888 COL22A1 EXON Missense_R300Q exm723348 8 139838972 [A/G] NM_152888 COL22A1 EXON Missense_R300W exm723352 8 139838995 [T/C] NM_152888 COL22A1 EXON Missense_E292G exm723356 8 139845316 [A/G] NM_152888 COL22A1 EXON Missense_R271W exm723362 8 139856350 [T/C] NM_152888 COL22A1 EXON Missense_N237S exm2164049 8 139856384 [T/C] NM_152888 COL22A1 EXON Missense_V226I exm723381 8 139890343 [A/G] NM_152888 COL22A1 EXON Missense_A103V exm723392 8 139890478 [T/C] NM_152888 COL22A1 EXON Missense_R58Q exm723401 8 139895402 [T/C] NM_152888 COL22A1 EXON Missense_R5Q exm723402 8 139895406 [C/G] NM_152888 COL22A1 EXON Missense_L4V exm-rs1876201 8 139982997 [T/C] exm-rs2001907 8 140241181 [T/C] exm2266699 8 140318368 [A/G] exm-rs2468677 8 140519517 [T/G] exm2262439 8 140670853 [A/G] NM_016601 KCNK9 Silent exm2246498 8 140743304 [T/G] NM_031466,NM_001160372 TRAPPC9,TRAPPC9 EXON Missense_X1247C,Missense_X1149C exm2164081 8 140743309 [T/C] NM_031466,NM_001160372 TRAPPC9,TRAPPC9 EXON Missense_A1246T,Missense_A1148T exm723442 8 140743330 [T/C] NM_031466,NM_001160372 TRAPPC9,TRAPPC9 EXON Missense_V1239M,Missense_V1141M exm723444 8 140743337 [A/C] NM_031466,NM_001160372 TRAPPC9,TRAPPC9 EXON Missense_S1236R,Missense_S1138R exm723448 8 140743395 [T/C] NM_031466,NM_001160372 TRAPPC9,TRAPPC9 EXON Missense_R1217Q,Missense_R1119Q exm723456 8 140744260 [T/C] NM_031466,NM_001160372 TRAPPC9,TRAPPC9 EXON Missense_V1179I,Missense_V1081I exm723459 8 140744290 [T/C] NM_031466,NM_001160372 TRAPPC9,TRAPPC9 EXON Missense_G1169S,Missense_G1071S exm723461 8 140744326 [T/C] NM_031466,NM_001160372 TRAPPC9,TRAPPC9 EXON Missense_A1157T,Missense_A1059T exm723464 8 140744338 [T/C] NM_031466,NM_001160372 TRAPPC9,TRAPPC9 EXON Missense_V1153I,Missense_V1055I exm723466 8 140744344 [A/G] NM_031466,NM_001160372 TRAPPC9,TRAPPC9 EXON Missense_R1151C,Missense_R1053C exm723517 8 140998947 [T/C] NM_031466,NM_001160372 TRAPPC9,TRAPPC9 EXON Missense_G1031S,Missense_G933S exm723519 8 140998950 [T/C] NM_031466,NM_001160372 TRAPPC9,TRAPPC9 EXON Missense_A1030T,Missense_A932T exm2271022 8 141004455 [T/C] NM_031466,NM_001160372 TRAPPC9,TRAPPC9 Silent,Silent exm723538 8 141034080 [T/C] NM_031466,NM_001160372 TRAPPC9,TRAPPC9 EXON Missense_E983K,Missense_E885K exm723565 8 141294025 [T/C] NM_031466,NM_001160372 TRAPPC9,TRAPPC9 EXON Missense_A791T,Missense_A693T exm723573 8 141294114 [T/C] NM_031466,NM_001160372 TRAPPC9,TRAPPC9 EXON Missense_H761R,Missense_H663R exm723576 8 141297736 [A/G] NM_031466,NM_001160372 TRAPPC9,TRAPPC9 EXON Missense_P749L,Missense_P651L exm723600 8 141321405 [T/C] NM_031466,NM_001160372 TRAPPC9,TRAPPC9 EXON Missense_A620T,Missense_A522T exm723608 8 141370291 [A/G] NM_031466,NM_001160372 TRAPPC9,TRAPPC9 EXON Synonymous_G549G,Synonymous_G451G exm723612 8 141381180 [A/C] NM_031466,NM_001160372 TRAPPC9,TRAPPC9 EXON Missense_A510S,Missense_A412S exm723618 8 141381237 [T/C] NM_031466,NM_001160372 TRAPPC9,TRAPPC9 EXON Missense_E491K,Missense_E393K exm2246503 8 141407744 [T/C] NM_031466,NM_001160372 TRAPPC9,TRAPPC9 EXON Missense_N468S,Missense_N370S exm723627 8 141407834 [A/G] NM_031466,NM_001160372 TRAPPC9,TRAPPC9 EXON Missense_A438V,Missense_A340V exm723632 8 141415696 [T/C] NM_031466,NM_001160372 TRAPPC9,TRAPPC9 EXON Missense_A428T,Missense_A330T exm723636 8 141445217 [A/G] NM_031466,NM_001160372 TRAPPC9,TRAPPC9 EXON Missense_R383W,Missense_R285W exm723639 8 141445257 [G/C] NM_031466,NM_001160372 TRAPPC9,TRAPPC9 EXON Missense_F369L,Missense_F271L exm723645 8 141449234 [A/G] NM_031466,NM_001160372 TRAPPC9,TRAPPC9 EXON Missense_A314V,Missense_A216V exm723664 8 141461103 [T/C] NM_031466,NM_001160372 TRAPPC9,TRAPPC9 EXON Missense_I222V,Missense_I124V exm723672 8 141461210 [A/G] NM_031466,NM_001160372 TRAPPC9,TRAPPC9 EXON Missense_S186L,Missense_S88L exm723677 8 141461266 [A/G] NM_031466,NM_001160372 TRAPPC9,TRAPPC9 EXON Synonymous_G167G,Synonymous_G69G exm2258692 8 141461266 [A/G] NM_031466,NM_001160372 TRAPPC9,TRAPPC9 EXON Synonymous_G167G,Synonymous_G69G exm723680 8 141461286 [A/G] NM_031466,NM_001160372 TRAPPC9,TRAPPC9 EXON Missense_P161S,Missense_P63S exm723682 8 141461333 [T/C] NM_031466,NM_001160372 TRAPPC9,TRAPPC9 EXON Missense_R145Q,Missense_R47Q exm723683 8 141461391 [T/C] NM_031466,NM_001160372 TRAPPC9,TRAPPC9 EXON Missense_E126K,Missense_E28K exm723685 8 141461429 [A/G] NM_031466,NM_001160372 TRAPPC9,TRAPPC9 EXON Missense_T113M,Missense_T15M exm723687 8 141461466 [T/C] NM_031466,NM_001160372 TRAPPC9,TRAPPC9 EXON Missense_V101I,Missense_V3I exm2266701 8 141467960 [A/G] NM_031466 TRAPPC9 Silent exm723709 8 141521651 [T/C] NM_017444,NR_023360 CHRAC1,CHRAC1 EXON Missense_S18L,Silent exm723716 8 141524484 [A/G] NM_017444,NR_023360,NR_040712 CHRAC1,CHRAC1,CHRAC1 EXON Missense_C55Y,Silent,Silent exm2164159 8 141524544 [A/G] NM_017444,NR_023360,NR_040712 CHRAC1,CHRAC1,CHRAC1 EXON Missense_S75N,Silent,Silent exm723728 8 141525292 [A/C] NM_017444,NR_023360,NR_040712 CHRAC1,CHRAC1,CHRAC1 EXON Missense_E114D,Silent,Silent exm723730 8 141525327 [A/G] NM_017444,NR_023360,NR_040712 CHRAC1,CHRAC1,CHRAC1 EXON Missense_H126R,Silent,Silent exm723832 8 141582984 [A/C] NM_001164623,NM_012154 AGO2,AGO2 EXON Missense_G88V,Missense_G88V exm2258693 8 141595298 [A/G] NM_001164623,NM_012154 AGO2,AGO2 EXON Synonymous_F45F,Synonymous_F45F exm723849 8 141678415 [T/C] NM_001199649,NM_153831,NM_005607 PTK2,PTK2,PTK2 EXON Missense_S953G,Missense_S940G,Missense_S962G exm723854 8 141678486 [T/C] NM_001199649,NM_153831,NM_005607 PTK2,PTK2,PTK2 EXON Missense_N929S,Missense_N916S,Missense_N938S exm723857 8 141684459 [T/C] NM_001199649,NM_153831,NM_005607 PTK2,PTK2,PTK2 EXON Missense_G893S,Missense_G883S,Missense_G905S exm723861 8 141685537 [A/G] NM_001199649,NM_153831,NM_005607 PTK2,PTK2,PTK2 EXON Missense_A875V,Silent,Silent exm723871 8 141711018 [T/C] NM_001199649,NM_153831,NM_005607 PTK2,PTK2,PTK2 EXON Missense_R824H,Missense_R824H,Missense_R846H exm723872 8 141711019 [A/G] NM_001199649,NM_153831,NM_005607 PTK2,PTK2,PTK2 EXON Missense_R824C,Missense_R824C,Missense_R846C exm723878 8 141712692 [T/C] NM_001199649,NM_153831,NM_005607 PTK2,PTK2,PTK2 EXON Missense_A782T,Missense_A782T,Missense_A804T exm723880 8 141712756 [C/G] NM_001199649,NM_153831,NM_005607 PTK2,PTK2,PTK2 EXON Missense_I760M,Missense_I760M,Missense_I782M exm723884 8 141716249 [A/G] NM_001199649,NM_153831,NM_005607 PTK2,PTK2,PTK2 EXON Missense_P733L,Missense_P733L,Missense_P755L exm723921 8 141754835 [C/G] NM_001199649,NM_153831,NM_005607 PTK2,PTK2,PTK2 EXON Missense_S517T,Missense_S517T,Missense_S539T exm723926 8 141756950 [T/C] NM_001199649,NM_153831,NM_005607 PTK2,PTK2,PTK2 EXON Missense_R476H,Missense_R476H,Missense_R498H exm723973 8 141889589 [A/G] NM_001199649,NM_153831,NM_005607 PTK2,PTK2,PTK2 EXON Missense_H115Y,Missense_H115Y,Missense_H137Y exm723974 8 141889622 [T/C] NM_001199649,NM_153831,NM_005607 PTK2,PTK2,PTK2 EXON Missense_V104I,Missense_V104I,Missense_V126I exm2271023 8 141992778 [T/C] NM_001199649,NM_153831,NM_005607 PTK2,PTK2,PTK2 Silent,Silent,Silent exm-rs4961252 8 142104944 [A/G] exm723987 8 142146794 [A/G] NM_014957 DENND3 EXON Missense_K17E exm723991 8 142146854 [A/G] NM_014957 DENND3 EXON Missense_V37M exm723993 8 142148144 [T/C] NM_014957 DENND3 EXON Missense_P57S exm724001 8 142154291 [A/G] NM_014957 DENND3 EXON Missense_S143N exm724033 8 142170813 [T/C] NM_014957 DENND3 EXON Missense_R347W exm724037 8 142170865 [A/G] NM_014957 DENND3 EXON Missense_Q364R exm724044 8 142175322 [T/C] NM_014957 DENND3 EXON Missense_A416V exm2164300 8 142175345 [A/G] NM_014957 DENND3 EXON Missense_A424T exm724050 8 142176373 [C/G] NM_014957 DENND3 EXON Missense_H466Q exm2164306 8 142178261 [T/C] NM_014957 DENND3 EXON Missense_R558C exm724063 8 142178262 [A/G] NM_014957 DENND3 EXON Missense_R558H exm724070 8 142178385 [T/C] NM_014957 DENND3 EXON Missense_T599M exm724072 8 142178405 [A/C] NM_014957 DENND3 EXON Missense_P606T exm724077 8 142178467 [G/C] NM_014957 DENND3 EXON Missense_D626E exm2246507 8 142178576 [A/G] NM_014957 DENND3 EXON Missense_V663M exm724087 8 142185359 [T/C] NM_014957 DENND3 EXON Missense_T699M exm724088 8 142185370 [A/G] NM_014957 DENND3 EXON Missense_A703T exm724089 8 142185385 [C/G] NM_014957 DENND3 EXON Missense_L708V exm2246508 8 142190927 [T/C] NM_014957 DENND3 EXON Missense_A893V exm724134 8 142199128 [T/C] NM_014957 DENND3 EXON Missense_S963L exm724141 8 142199229 [A/G] NM_014957 DENND3 EXON Missense_G997R exm724144 8 142200411 [A/G] NM_014957 DENND3 EXON Missense_M1012V exm724169 8 142202698 [T/C] NM_014957 DENND3 EXON Missense_P1111L exm724170 8 142202712 [T/C] NM_014957 DENND3 EXON Missense_P1116S exm724177 8 142204148 [A/G] NM_014957 DENND3 EXON Missense_R1138Q exm724178 8 142204229 [T/C] NM_014957 DENND3 EXON Missense_A1165V exm2266702 8 142205132 [A/G] NM_014957 DENND3 EXON Silent exm724198 8 142221626 [T/C] NM_001080431 SLC45A4 EXON Missense_C771Y exm724199 8 142221662 [A/G] NM_001080431 SLC45A4 EXON Missense_T759M exm724200 8 142221680 [T/C] NM_001080431 SLC45A4 EXON Missense_G753D exm724203 8 142221746 [T/C] NM_001080431 SLC45A4 EXON Missense_R731H exm724205 8 142221750 [A/C] NM_001080431 SLC45A4 EXON Missense_C730G exm724213 8 142222329 [G/C] NM_001080431 SLC45A4 EXON Missense_E705D exm724214 8 142222331 [T/C] NM_001080431 SLC45A4 EXON Missense_E705K exm724225 8 142222445 [T/C] NM_001080431 SLC45A4 EXON Missense_N667D exm724243 8 142225961 [T/C] NM_001080431 SLC45A4 EXON Missense_N562S exm724244 8 142225971 [T/C] NM_001080431 SLC45A4 EXON Missense_M559V exm724259 8 142228142 [T/C] NM_001080431 SLC45A4 EXON Missense_M482V exm724272 8 142228343 [A/G] NM_001080431 SLC45A4 EXON Missense_R415W exm724289 8 142228516 [A/G] NM_001080431 SLC45A4 EXON Missense_T357M exm724296 8 142228628 [T/C] NM_001080431 SLC45A4 EXON Missense_E320K exm724300 8 142228658 [T/C] NM_001080431 SLC45A4 EXON Missense_T310A exm724323 8 142228909 [A/G] NM_001080431 SLC45A4 EXON Missense_P226L exm724335 8 142229043 [A/C] NM_001080431 SLC45A4 EXON Missense_Q181H exm724352 8 142229902 [A/G] NM_001080431 SLC45A4 EXON Missense_R102W exm724353 8 142229904 [T/C] NM_001080431 SLC45A4 EXON Missense_N101S exm724372 8 142231858 [A/G] NM_001080431 SLC45A4 EXON Missense_P32L exm724376 8 142238331 [T/C] NM_001080431 SLC45A4 EXON Missense_R12H exm-rs7386474 8 142359550 [A/G] exm724383 8 142367014 [T/C] NM_005293 GPR20 EXON Missense_R337H exm724384 8 142367024 [T/C] NM_005293 GPR20 EXON Missense_G334S exm724387 8 142367078 [T/C] NM_005293 GPR20 EXON Missense_G316R exm724389 8 142367087 [T/C] NM_005293 GPR20 EXON Missense_G313S exm724391 8 142367126 [T/C] NM_005293 GPR20 EXON Missense_V300I exm724394 8 142367171 [A/G] NM_005293 GPR20 EXON Missense_L285F exm724400 8 142367221 [T/G] NM_005293 GPR20 EXON Missense_P268H exm724402 8 142367245 [T/C] NM_005293 GPR20 EXON Missense_R260H exm724403 8 142367246 [A/G] NM_005293 GPR20 EXON Missense_R260C exm724409 8 142367335 [T/C] NM_005293 GPR20 EXON Missense_H230R exm724411 8 142367350 [T/C] NM_005293 GPR20 EXON Missense_R225Q exm724431 8 142367678 [T/C] NM_005293 GPR20 EXON Missense_A116T exm724435 8 142367701 [A/G] NM_005293 GPR20 EXON Missense_T108M exm724439 8 142367783 [A/G] NM_005293 GPR20 EXON Missense_R81C exm724450 8 142367939 [T/C] NM_005293 GPR20 EXON Missense_G29R exm724453 8 142367954 [A/G] NM_005293 GPR20 EXON Missense_R24W exm724457 8 142368001 [A/C] NM_005293 GPR20 EXON Missense_G8V exm2271024 8 142400454 [T/C] exm724465 8 142432360 [T/C] NM_032611,NM_007079 PTP4A3,PTP4A3 EXON Missense_P7L,Missense_P7L exm724507 8 142444653 [T/C] NM_207414 MROH5 EXON Missense_R1285H exm724514 8 142444926 [A/G] NM_207414 MROH5 EXON Missense_I1260T exm2246513 8 142444950 [A/G] NM_207414 MROH5 EXON Missense_I1252T exm724522 8 142445249 [T/C] NM_207414 MROH5 EXON Missense_R1219H exm724526 8 142445303 [T/C] NM_207414 MROH5 EXON Missense_R1201Q exm724532 8 142446018 [T/C] NM_207414 MROH5 EXON Missense_A1184T exm724535 8 142446090 [T/C] NM_207414 MROH5 EXON Missense_G1160S exm724539 8 142446139 [T/C] NM_207414 MROH5 EXON Missense_M1143I exm724542 8 142446159 [T/C] NM_207414 MROH5 EXON Missense_G1137R exm2246514 8 142446164 [T/C] NM_207414 MROH5 EXON Missense_R1135Q exm724543 8 142446785 [T/C] NM_207414 MROH5 Silent exm724560 8 142446922 [A/C] NM_207414 MROH5 EXON Missense_G1088V exm724561 8 142446923 [T/C] NM_207414 MROH5 EXON Missense_G1088S exm724564 8 142446934 [T/G] NM_207414 MROH5 EXON Missense_P1084H exm724565 8 142446937 [T/C] NM_207414 MROH5 EXON Missense_R1083Q exm724580 8 142451286 [C/G] NM_207414 MROH5 EXON Missense_P1012R exm724581 8 142451314 [A/G] NM_207414 MROH5 EXON Missense_R1003C exm724584 8 142451350 [T/C] NM_207414 MROH5 EXON Missense_V991M exm724590 8 142451775 [A/G] NM_207414 MROH5 EXON Missense_T975I exm724591 8 142451835 [A/G] NM_207414 MROH5 EXON Missense_T955M exm724594 8 142451871 [A/G] NM_207414 MROH5 EXON Missense_T943M exm724599 8 142458032 [A/C] NM_207414 MROH5 EXON Nonsense_E932X exm724602 8 142458053 [A/G] NM_207414 MROH5 EXON Missense_X925Q exm724603 8 142458059 [T/C] NM_207414 MROH5 EXON Missense_E923K exm724606 8 142458104 [A/G] NM_207414 MROH5 EXON Missense_L908F exm724615 8 142459814 [T/C] NM_207414 MROH5 EXON Missense_G838E exm-rs7842575 8 142461694 [T/C] NM_207414 MROH5 Silent exm2266703 8 142468255 [A/G] NM_207414 MROH5 Silent exm724620 8 142476555 [A/G] NM_207414 MROH5 EXON Missense_C811R exm724622 8 142476611 [A/G] NM_207414 MROH5 EXON Missense_P792L exm724628 8 142477498 [T/C] NM_207414 MROH5 Silent exm724633 8 142477563 [T/C] NM_207414 MROH5 EXON Missense_R753H exm724634 8 142477576 [T/G] NM_207414 MROH5 EXON Missense_T749P exm2258697 8 142477592 [A/G] NM_207414 MROH5 EXON Synonymous_I743I exm724639 8 142477614 [T/C] NM_207414 MROH5 EXON Missense_S736N exm2164457 8 142477649 [G/C] NM_207414 MROH5 Silent exm724641 8 142480801 [T/C] NM_207414 MROH5 EXON Missense_G690R exm724666 8 142486102 [T/C] NM_207414 MROH5 EXON Missense_V531M exm724669 8 142486137 [A/C] NM_207414 MROH5 EXON Missense_L519R exm724679 8 142487515 [A/G] NM_207414 MROH5 EXON Missense_A478V exm724683 8 142487542 [T/C] NM_207414 MROH5 EXON Missense_R469Q exm2276032 8 142487545 [A/G] NM_207414 MROH5 EXON Missense_T468M exm724686 8 142487558 [T/C] NM_207414 MROH5 EXON Missense_D464N exm724688 8 142487895 [T/A] NM_207414 MROH5 EXON Missense_E449V exm724692 8 142487940 [T/C] NM_207414 MROH5 EXON Missense_S434N exm724705 8 142488837 [A/G] NM_207414 MROH5 EXON Missense_A375V exm724707 8 142488854 [T/G] NM_207414 MROH5 EXON Missense_D369E exm724709 8 142489329 [A/C] NM_207414 MROH5 EXON Missense_S358I exm2258698 8 142489370 [A/G] NM_207414 MROH5 EXON Synonymous_A344A exm724715 8 142489392 [T/C] NM_207414 MROH5 EXON Missense_R337H exm724719 8 142489410 [A/G] NM_207414 MROH5 EXON Missense_L331S exm724726 8 142490120 [T/G] NM_207414 MROH5 EXON Missense_L289M exm724730 8 142500218 [A/G] NM_207414 MROH5 EXON Synonymous_S232S exm724732 8 142500241 [T/C] NM_207414 MROH5 EXON Missense_V225M exm724737 8 142500306 [A/C] NM_207414 MROH5 EXON Missense_V203G exm724738 8 142500309 [T/C] NM_207414 MROH5 EXON Missense_R202Q exm724739 8 142500315 [A/G] NM_207414 MROH5 EXON Missense_S200L exm724740 8 142500345 [T/C] NM_207414 MROH5 EXON Missense_S190N exm2258699 8 142500350 [T/C] NM_207414 MROH5 EXON Synonymous_A188A exm724743 8 142500352 [T/C] NM_207414 MROH5 EXON Missense_A188T exm724744 8 142504935 [T/C] NM_207414 MROH5 EXON Missense_A171T exm724747 8 142504974 [T/C] NM_207414 MROH5 EXON Missense_V158I exm724753 8 142505038 [T/C] NM_207414 MROH5 Silent exm724754 8 142505439 [T/A] NM_207414 MROH5 EXON Missense_E136V exm724758 8 142505578 [A/C] NM_207414 MROH5 EXON Missense_G90C exm724762 8 142506444 [A/G] NM_207414 MROH5 EXON Missense_F80L exm724766 8 142506534 [A/G] NM_207414 MROH5 EXON Missense_R50C exm724769 8 142506570 [A/C] NM_207414 MROH5 EXON Missense_D38Y exm724774 8 142517209 [A/G] NM_207414 MROH5 EXON Missense_P14L exm724775 8 142517222 [A/G] NM_207414 MROH5 EXON Missense_Y10H exm724776 8 142517227 [T/C] NM_207414 MROH5 EXON Missense_R8K exm-rs13263959 8 142632315 [T/C] exm2266705 8 143310815 [A/G] NM_145003 TSNARE1 Silent exm724783 8 143310853 [A/G] NM_145003 TSNARE1 EXON Nonsense_R512X exm724787 8 143310927 [T/G] NM_145003 TSNARE1 EXON Missense_K487T exm724791 8 143365782 [T/G] NM_145003 TSNARE1 EXON Missense_E452A exm724797 8 143381954 [A/C] NM_145003 TSNARE1 EXON Missense_G395W exm724807 8 143395768 [T/C] NM_145003 TSNARE1 EXON Missense_M370V exm724808 8 143395779 [A/G] NM_145003 TSNARE1 EXON Missense_A366V exm724813 8 143396417 [A/G] NM_145003 TSNARE1 EXON Missense_R341W exm724818 8 143396446 [T/C] NM_145003 TSNARE1 EXON Missense_R331H exm724823 8 143399918 [T/C] NM_145003 TSNARE1 EXON Missense_R324H exm724835 8 143412292 [A/G] NM_145003 TSNARE1 EXON Missense_P288L exm724838 8 143412313 [T/C] NM_145003 TSNARE1 EXON Missense_S281N exm724839 8 143412316 [T/C] NM_145003 TSNARE1 EXON Missense_R280Q exm724844 8 143413129 [T/C] NM_145003 TSNARE1 EXON Missense_R270Q exm724845 8 143413136 [T/C] NM_145003 TSNARE1 EXON Missense_V268I exm724853 8 143425335 [A/G] NM_145003 TSNARE1 EXON Missense_P246L exm724855 8 143425354 [T/C] NM_145003 TSNARE1 EXON Missense_E240K exm724857 8 143425402 [T/C] NM_145003 TSNARE1 EXON Missense_V224M exm724864 8 143425506 [T/C] NM_145003 TSNARE1 EXON Missense_R189Q exm724880 8 143425720 [T/C] NM_145003 TSNARE1 EXON Missense_T118A exm724882 8 143425738 [A/G] NM_145003 TSNARE1 EXON Missense_R112W exm2164548 8 143425770 [A/G] NM_145003 TSNARE1 EXON Missense_P101L exm724889 8 143425822 [A/C] NM_145003 TSNARE1 EXON Missense_A84S exm724896 8 143427161 [T/C] NM_145003 TSNARE1 EXON Missense_G61R exm724898 8 143427178 [C/G] NM_145003 TSNARE1 EXON Missense_R55P exm724899 8 143427179 [A/G] NM_145003 TSNARE1 EXON Missense_R55C exm724903 8 143436006 [T/C] NM_145003 TSNARE1 EXON Missense_Q27R exm724906 8 143436031 [T/C] NM_145003 TSNARE1 EXON Missense_G19R exm724907 8 143436034 [A/G] NM_145003 TSNARE1 EXON Missense_F18L exm724908 8 143436043 [A/G] NM_145003 TSNARE1 EXON Missense_R15C exm724911 8 143436060 [C/G] NM_145003 TSNARE1 EXON Missense_G9A exm724912 8 143436063 [T/C] NM_145003 TSNARE1 EXON Missense_R8H exm2271025 8 143548500 [T/C] NM_001702 BAI1 Silent exm724948 8 143560847 [T/C] NM_001702 BAI1 EXON Synonymous_P575P exm724989 8 143599512 [T/C] NM_001702 BAI1 EXON Missense_A944V exm725040 8 143623536 [T/C] NM_001702 BAI1 EXON Missense_A1314V exm725061 8 143624989 [A/C] NM_001702 BAI1 EXON Missense_Q1493K exm725062 8 143625032 [T/C] NM_001702 BAI1 EXON Missense_A1507V exm725093 8 143694941 [A/C] NM_015193 ARC EXON Missense_V231G exm2258703 8 143695488 [A/G] NM_015193 ARC EXON Synonymous_L49L exm725118 8 143740311 [A/C] NM_003724,NM_001077527 JRK,JRK EXON Silent,Missense_L543V exm725120 8 143745773 [T/A] NM_003724,NM_001077527 JRK,JRK EXON Missense_N568I,Silent exm725132 8 143745949 [T/C] NM_003724,NM_001077527 JRK,JRK EXON Synonymous_A509A,Synonymous_A509A exm725135 8 143745968 [T/C] NM_003724,NM_001077527 JRK,JRK EXON Missense_R503Q,Missense_R503Q exm725145 8 143746069 [T/C] NM_003724,NM_001077527 JRK,JRK EXON Synonymous_P469P,Synonymous_P469P exm725152 8 143746111 [A/G] NM_003724,NM_001077527 JRK,JRK EXON Missense_T456M,Missense_T456M exm725160 8 143746185 [G/C] NM_003724,NM_001077527 JRK,JRK EXON Missense_Q431H,Missense_Q431H exm725168 8 143746397 [T/C] NM_003724,NM_001077527 JRK,JRK EXON Missense_D361N,Missense_D361N exm725169 8 143746399 [T/C] NM_003724,NM_001077527 JRK,JRK EXON Missense_N360S,Missense_N360S exm725170 8 143746414 [A/G] NM_003724,NM_001077527 JRK,JRK EXON Missense_A355V,Missense_A355V exm2258705 8 143746416 [A/G] NM_003724,NM_001077527 JRK,JRK EXON Synonymous_H354H,Synonymous_H354H exm725177 8 143746612 [A/G] NM_003724,NM_001077527 JRK,JRK EXON Missense_P289L,Missense_P289L exm725202 8 143747023 [T/C] NM_003724,NM_001077527 JRK,JRK EXON Missense_S152N,Missense_S152N exm725210 8 143747146 [A/G] NM_003724,NM_001077527 JRK,JRK EXON Missense_M111T,Missense_M111T exm725213 8 143747177 [A/G] NM_003724,NM_001077527 JRK,JRK EXON Missense_R101C,Missense_R101C exm725216 8 143747216 [T/G] NM_003724,NM_001077527 JRK,JRK EXON Missense_H88N,Missense_H88N exm725220 8 143747279 [T/C] NM_003724,NM_001077527 JRK,JRK EXON Missense_A67T,Missense_A67T exm725230 8 143747456 [T/C] NM_003724,NM_001077527 JRK,JRK EXON Missense_G8R,Missense_G8R exm725231 8 143747464 [A/G] NM_003724,NM_001077527 JRK,JRK EXON Missense_P5L,Missense_P5L exm-rs2294008 8 143761931 [T/C] NR_033343,NM_005672 PSCA,PSCA EXON Silent,Silent exm725235 8 143762807 [A/G] NR_033343,NM_005672 PSCA,PSCA EXON Silent,Missense_E30K exm2246523 8 143762839 [A/G] NR_033343,NM_005672 PSCA,PSCA EXON Silent,Nonsense_W40X exm725237 8 143762843 [A/G] NR_033343,NM_005672 PSCA,PSCA EXON Silent,Missense_A42T exm725247 8 143763531 [A/G] NR_033343,NM_005672 PSCA,PSCA EXON Silent,Nonsense_W109X exm725276 8 143783129 [T/A] NM_001160354,NM_017527,NM_001160355 LY6K,LY6K,LY6K EXON Missense_V72E,Missense_V72E,Missense_V72E exm2164636 8 143784520 [T/C] NM_001160354,NM_017527,NM_001160355,NR_038925 LY6K,LY6K,LY6K,LOC100288181 EXON Silent,Missense_R77C,Silent,Silent exm725285 8 143784521 [A/G] NM_001160354,NM_017527,NM_001160355,NR_038925 LY6K,LY6K,LY6K,LOC100288181 EXON Silent,Missense_R77H,Silent,Silent exm725287 8 143784550 [A/G] NM_001160354,NM_017527,NM_001160355,NR_038925 LY6K,LY6K,LY6K,LOC100288181 EXON Silent,Missense_A87T,Missense_R76H,Silent exm725290 8 143784572 [A/G] NM_001160354,NM_017527,NM_001160355,NR_038925 LY6K,LY6K,LY6K,LOC100288181 EXON Silent,Missense_R94K,Synonymous_E83E,Silent exm725292 8 143784592 [T/C] NM_001160354,NM_017527,NM_001160355,NR_038925 LY6K,LY6K,LY6K,LOC100288181 EXON Silent,Missense_R101W,Missense_A90V,Silent exm725294 8 143784599 [T/C] NM_001160354,NM_017527,NM_001160355,NR_038925 LY6K,LY6K,LY6K,LOC100288181 EXON Silent,Missense_L103P,Synonymous_S92S,Silent exm725295 8 143784619 [T/C] NM_001160354,NM_017527,NM_001160355,NR_038925 LY6K,LY6K,LY6K,LOC100288181 EXON Silent,Missense_F110L,Missense_L99P,Silent exm725298 8 143784650 [A/G] NM_001160354,NM_017527,NM_001160355,NR_038925 LY6K,LY6K,LY6K,LOC100288181 EXON Silent,Missense_Y120C,Silent,Silent exm725330 8 143816828 [A/G] NM_016647 THEM6 EXON Missense_G200R exm725334 8 143822563 [A/G] NM_020427 SLURP1 EXON Missense_X104R exm725344 8 143823221 [T/C] NM_020427 SLURP1 EXON Missense_E60K exm725348 8 143823281 [T/C] NM_020427 SLURP1 EXON Missense_I40V exm725358 8 143831709 [A/G] NM_205545 LYPD2 EXON Nonsense_R124X exm725375 8 143832478 [A/G] NM_205545 LYPD2 EXON Missense_R57W exm725376 8 143832487 [A/G] NM_205545 LYPD2 EXON Missense_L54F exm725378 8 143832508 [T/C] NM_205545 LYPD2 EXON Missense_E47K exm725380 8 143832510 [T/C] NM_205545 LYPD2 EXON Missense_N46S exm725383 8 143832564 [T/C] NM_205545 LYPD2 EXON Missense_C28Y exm725384 8 143832587 [T/C] NM_205545 LYPD2 EXON Synonymous_A20A exm725397 8 143846046 [T/G] NM_177458,NM_023946 LYNX1,LYNX1 EXON Missense_T91P,Missense_T125P exm725408 8 143846525 [A/G] NM_177458,NM_023946 LYNX1,LYNX1 EXON Missense_T29M,Missense_T63M exm725426 8 143856640 [T/G] NM_023946,NM_177457,NM_177477,NM_177476 LYNX1,LYNX1,LYNX1,LYNX1 EXON Silent,Missense_P99Q,Missense_P99Q,Missense_P99Q exm2164678 8 143856736 [T/C] NM_023946,NM_177457,NM_177477,NM_177476 LYNX1,LYNX1,LYNX1,LYNX1 EXON Silent,Missense_R67H,Missense_R67H,Missense_R67H exm725436 8 143856760 [T/C] NM_023946,NM_177457,NM_177477,NM_177476 LYNX1,LYNX1,LYNX1,LYNX1 EXON Silent,Missense_K59R,Missense_K59R,Missense_K59R exm725449 8 143857338 [A/C] NM_023946,NM_177457,NM_177477,NM_177476 LYNX1,LYNX1,LYNX1,LYNX1 EXON Missense_M13R,Missense_M13R,Missense_M13R,Missense_M13R exm725461 8 143866711 [T/C] NM_003695 LY6D EXON Missense_A105T exm725465 8 143866737 [A/G] NM_003695 LY6D EXON Missense_L96P exm725476 8 143867047 [T/C] NM_003695 LY6D EXON Missense_V37I exm725485 8 143867905 [T/C] NM_003695 LY6D EXON Missense_A10T exm2270938 8 143906396 [T/C] exm725496 8 143921882 [T/C] NM_002066 GML EXON Missense_M10T exm725502 8 143922562 [T/G] NM_002066 GML EXON Missense_C34W exm725503 8 143922564 [T/C] NM_002066 GML EXON Missense_A35V exm725507 8 143922597 [C/G] NM_002066 GML EXON Missense_R46T exm725509 8 143922620 [T/C] NM_002066 GML EXON Missense_R54C exm725512 8 143922641 [T/C] NM_002066 GML EXON Missense_R61C exm725513 8 143922642 [A/G] NM_002066 GML Silent exm725517 8 143927918 [A/G] NM_002066 GML EXON Missense_N97D exm725546 8 143956570 [T/C] NM_001026213,NM_000497 CYP11B1,CYP11B1 EXON Silent,Missense_T401A exm2258707 8 143957261 [A/G] NM_001026213,NM_000497 CYP11B1,CYP11B1 EXON Synonymous_L330L,Synonymous_L330L exm2246527 8 143957723 [A/C] NM_001026213,NM_000497 CYP11B1,CYP11B1 EXON Missense_N296K,Missense_N296K exm725583 8 143957788 [A/G] NM_001026213,NM_000497 CYP11B1,CYP11B1 EXON Missense_Y275H,Missense_Y275H exm725606 8 143958553 [A/C] NM_001026213,NM_000497 CYP11B1,CYP11B1 EXON Missense_V161L,Missense_V161L exm725608 8 143958577 [T/C] NM_001026213,NM_000497 CYP11B1,CYP11B1 EXON Missense_A153T,Missense_A153T exm725632 8 143960468 [C/G] NM_001026213,NM_000497 CYP11B1,CYP11B1 EXON Missense_H125Q,Missense_H125Q exm725680 8 143993400 [T/G] NM_000498 CYP11B2 EXON Missense_N503T exm725724 8 143994806 [A/G] NM_000498 CYP11B2 EXON Missense_I339T exm725734 8 143994863 [A/G] NM_000498 CYP11B2 EXON Missense_A320V exm725796 8 143999168 [T/C] NM_000498 CYP11B2 EXON Missense_R30Q exm725798 8 143999172 [T/C] NM_000498 CYP11B2 EXON Missense_A29T exm2262445 8 144064337 [A/G] NR_026913 LOC100133669 Silent exm2258709 8 144101037 [T/C] NM_002346,NM_001127213 LY6E,LY6E Silent,Silent exm725816 8 144102844 [A/G] NM_002346,NM_001127213 LY6E,LY6E EXON Missense_G56S,Missense_G56S exm725828 8 144103051 [A/G] NM_002346,NM_001127213 LY6E,LY6E EXON Missense_V81I,Missense_V81I exm725835 8 144103120 [A/G] NM_002346,NM_001127213 LY6E,LY6E EXON Missense_D104N,Missense_D104N exm725838 8 144103132 [T/C] NM_002346,NM_001127213 LY6E,LY6E EXON Missense_R108W,Missense_R108W exm725840 8 144103141 [A/G] NM_002346,NM_001127213 LY6E,LY6E EXON Missense_V111I,Missense_V111I exm725849 8 144124609 [T/C] NM_173687 C8orf31 EXON Missense_L39P exm725854 8 144126087 [A/C] NM_173687 C8orf31 EXON Missense_P70T exm725861 8 144126154 [A/G] NM_173687 C8orf31 EXON Missense_R92Q exm725863 8 144126187 [A/G] NM_173687 C8orf31 EXON Missense_R103H exm725867 8 144130643 [A/G] NM_173687 C8orf31 EXON Missense_G125R exm725879 8 144239752 [A/G] NM_002347,NM_001135655,NM_001130478 LY6H,LY6H,LY6H EXON Missense_A113V,Missense_A134V,Missense_A134V exm725892 8 144240258 [A/G] NM_002347,NM_001135655,NM_001130478 LY6H,LY6H,LY6H EXON Missense_T50M,Missense_T71M,Missense_T71M exm725901 8 144295183 [T/G] NM_178172 GPIHBP1 EXON Missense_C14F exm725917 8 144297000 [T/C] NM_178172 GPIHBP1 EXON Synonymous_T98T exm725918 8 144297001 [A/G] NM_178172 GPIHBP1 EXON Missense_E99K exm725928 8 144297206 [A/G] NM_178172 GPIHBP1 EXON Missense_G123E exm725931 8 144297269 [T/C] NM_178172 GPIHBP1 EXON Missense_S144F exm725937 8 144297361 [G/C] NM_178172 GPIHBP1 EXON Missense_G175R exm725938 8 144297382 [A/G] NM_178172 GPIHBP1 EXON Missense_R182G exm725944 8 144332084 [T/C] NM_001271156,NM_173832 ZFP41,ZFP41 EXON Missense_A24V,Missense_A24V exm725947 8 144332122 [T/C] NM_001271156,NM_173832 ZFP41,ZFP41 EXON Missense_P37S,Missense_P37S exm725954 8 144332242 [A/G] NM_001271156,NM_173832 ZFP41,ZFP41 EXON Missense_V77M,Missense_V77M exm725955 8 144332248 [A/G] NM_001271156,NM_173832 ZFP41,ZFP41 EXON Missense_I79V,Missense_I79V exm725963 8 144332323 [T/C] NM_001271156,NM_173832 ZFP41,ZFP41 EXON Missense_R104C,Missense_R104C exm725964 8 144332336 [T/C] NM_001271156,NM_173832 ZFP41,ZFP41 EXON Missense_V108A,Missense_V108A exm725971 8 144332381 [T/C] NM_001271156,NM_173832 ZFP41,ZFP41 EXON Missense_A123V,Missense_A123V exm725973 8 144332449 [A/G] NM_001271156,NM_173832 ZFP41,ZFP41 EXON Missense_G146R,Missense_G146R exm725989 8 144351610 [T/C] NM_138465 GLI4 EXON Missense_S15F exm725995 8 144356914 [T/C] NM_138465 GLI4 EXON Synonymous_S55S exm2258710 8 144356914 [T/C] NM_138465 GLI4 EXON Synonymous_S55S exm2164861 8 144356969 [A/C] NM_138465 GLI4 EXON Missense_P74T exm725998 8 144356971 [T/C] NM_138465 GLI4 EXON Synonymous_P74P exm726005 8 144358100 [T/C] NM_138465 GLI4 EXON Missense_S86F exm726014 8 144358381 [A/G] NM_138465 GLI4 EXON Missense_A180T exm726062 8 144377951 [T/C] NM_030895 ZNF696 EXON Missense_R36W exm726069 8 144378099 [G/C] NM_030895 ZNF696 EXON Missense_G85A exm726079 8 144378316 [C/G] NM_030895 ZNF696 EXON Missense_D157E exm726127 8 144391640 [T/C] NM_001258446,NM_001258447,NM_052963 TOP1MT,TOP1MT,TOP1MT EXON Missense_A495T,Missense_A495T,Missense_A593T exm726130 8 144391663 [T/C] NM_001258446,NM_001258447,NM_052963 TOP1MT,TOP1MT,TOP1MT EXON Missense_R487Q,Missense_R487Q,Missense_R585Q exm726145 8 144392344 [A/G] NM_001258446,NM_001258447,NM_052963 TOP1MT,TOP1MT,TOP1MT EXON Nonsense_Q435X,Nonsense_Q435X,Nonsense_Q533X exm726148 8 144392368 [A/G] NM_001258446,NM_001258447,NM_052963 TOP1MT,TOP1MT,TOP1MT EXON Missense_R427W,Missense_R427W,Missense_R525W exm2164894 8 144398191 [A/G] NM_001258446,NM_001258447,NM_052963 TOP1MT,TOP1MT,TOP1MT EXON Missense_S381L,Missense_S381L,Missense_S479L exm726158 8 144398198 [T/C] NM_001258446,NM_001258447,NM_052963 TOP1MT,TOP1MT,TOP1MT EXON Missense_E379K,Missense_E379K,Missense_E477K exm726159 8 144398203 [A/G] NM_001258446,NM_001258447,NM_052963 TOP1MT,TOP1MT,TOP1MT EXON Missense_T377M,Missense_T377M,Missense_T475M exm2164897 8 144398257 [C/G] NM_001258446,NM_001258447,NM_052963 TOP1MT,TOP1MT,TOP1MT EXON Missense_R359P,Missense_R359P,Missense_R457P exm726165 8 144398258 [A/G] NM_001258446,NM_001258447,NM_052963 TOP1MT,TOP1MT,TOP1MT EXON Nonsense_R359X,Nonsense_R359X,Nonsense_R457X exm2164898 8 144398295 [A/G] NM_001258446,NM_001258447,NM_052963 TOP1MT,TOP1MT,TOP1MT EXON Synonymous_A346A,Synonymous_A346A,Synonymous_A444A exm2275234 8 144399893 [T/C] NM_001258446,NM_001258447,NM_052963 TOP1MT,TOP1MT,TOP1MT EXON Missense_A346T,Missense_A346T,Missense_A444T exm726170 8 144399894 [A/G] NM_001258446,NM_001258447,NM_052963 TOP1MT,TOP1MT,TOP1MT EXON Synonymous_R345R,Synonymous_R345R,Synonymous_R443R exm726173 8 144399914 [A/G] NM_001258446,NM_001258447,NM_052963 TOP1MT,TOP1MT,TOP1MT EXON Nonsense_Q339X,Nonsense_Q339X,Nonsense_Q437X exm2164910 8 144403384 [A/G] NM_001258446,NM_001258447,NM_052963 TOP1MT,TOP1MT,TOP1MT EXON Missense_P280L,Missense_P280L,Missense_P378L exm726196 8 144403487 [A/G] NM_001258446,NM_001258447,NM_052963 TOP1MT,TOP1MT,TOP1MT EXON Missense_R246C,Missense_R246C,Missense_R344C exm726200 8 144403505 [A/C] NM_001258446,NM_001258447,NM_052963 TOP1MT,TOP1MT,TOP1MT EXON Missense_V240L,Missense_V240L,Missense_V338L exm726203 8 144403532 [T/C] NM_001258446,NM_001258447,NM_052963 TOP1MT,TOP1MT,TOP1MT EXON Missense_K231E,Missense_K231E,Missense_K329E exm726207 8 144406174 [C/G] NM_001258446,NM_001258447,NM_052963 TOP1MT,TOP1MT,TOP1MT EXON Missense_D221H,Missense_D221H,Missense_D319H exm2277362 8 144406174 [T/C] NM_001258446,NM_001258447,NM_052963 TOP1MT,TOP1MT,TOP1MT EXON Missense_D221N,Missense_D221N,Missense_D319N exm726217 8 144406705 [T/C] NM_001258446,NM_001258447,NM_052963 TOP1MT,TOP1MT,TOP1MT EXON Missense_V158I,Missense_V158I,Missense_V256I exm726218 8 144406731 [A/G] NM_001258446,NM_001258447,NM_052963 TOP1MT,TOP1MT,TOP1MT EXON Missense_T149M,Missense_T149M,Missense_T247M exm726220 8 144406749 [T/C] NM_001258446,NM_001258447,NM_052963 TOP1MT,TOP1MT,TOP1MT EXON Missense_R143H,Missense_R143H,Missense_R241H exm726222 8 144406773 [A/G] NM_001258446,NM_001258447,NM_052963 TOP1MT,TOP1MT,TOP1MT EXON Missense_A135V,Missense_A135V,Missense_A233V exm726233 8 144407589 [A/G] NM_001258446,NM_001258447,NM_052963 TOP1MT,TOP1MT,TOP1MT EXON Missense_R102C,Missense_R102C,Missense_R200C exm726234 8 144407595 [A/G] NM_001258446,NM_001258447,NM_052963 TOP1MT,TOP1MT,TOP1MT EXON Missense_R100C,Missense_R100C,Missense_R198C exm726238 8 144407675 [T/C] NM_001258446,NM_001258447,NM_052963 TOP1MT,TOP1MT,TOP1MT EXON Missense_Q73R,Missense_Q73R,Missense_Q171R exm726239 8 144407684 [T/C] NM_001258446,NM_001258447,NM_052963 TOP1MT,TOP1MT,TOP1MT EXON Missense_E70G,Missense_E70G,Missense_E168G exm726240 8 144408455 [A/C] NM_001258446,NM_001258447,NM_052963 TOP1MT,TOP1MT,TOP1MT EXON Missense_E42D,Missense_E42D,Missense_E140D exm726241 8 144408480 [T/C] NM_001258446,NM_001258447,NM_052963 TOP1MT,TOP1MT,TOP1MT EXON Missense_S34N,Missense_S34N,Missense_S132N exm2164938 8 144408508 [T/C] NM_001258446,NM_001258447,NM_052963 TOP1MT,TOP1MT,TOP1MT EXON Missense_A25T,Missense_A25T,Missense_A123T exm726245 8 144411525 [A/G] NM_001258446,NM_001258447,NM_052963 TOP1MT,TOP1MT,TOP1MT EXON Nonsense_R21X,Nonsense_R21X,Nonsense_R119X exm726246 8 144411548 [T/C] NM_001258446,NM_001258447,NM_052963 TOP1MT,TOP1MT,TOP1MT EXON Missense_R13Q,Missense_R13Q,Missense_R111Q exm726247 8 144411549 [A/G] NM_001258446,NM_001258447,NM_052963 TOP1MT,TOP1MT,TOP1MT EXON Missense_R13W,Missense_R13W,Missense_R111W exm2164941 8 144411609 [C/G] NM_001258446,NM_001258447,NM_052963 TOP1MT,TOP1MT,TOP1MT EXON Silent,Silent,Missense_E91Q exm726266 8 144413499 [T/C] NM_001258446,NM_001258447,NM_052963 TOP1MT,TOP1MT,TOP1MT EXON Silent,Silent,Missense_E45K exm726269 8 144416928 [T/C] NM_001258446,NM_001258447,NM_052963 TOP1MT,TOP1MT,TOP1MT EXON Silent,Silent,Missense_Q35R exm726287 8 144457793 [T/C] NM_052924 RHPN1 EXON Missense_I44T exm726299 8 144458795 [A/G] NM_052924 RHPN1 EXON Missense_G93S exm726300 8 144458801 [A/G] NM_052924 RHPN1 EXON Missense_V95M exm726312 8 144460873 [A/G] NM_052924 RHPN1 EXON Missense_R156Q exm726367 8 144463473 [T/C] NM_052924 RHPN1 EXON Missense_R483C exm726378 8 144463835 [T/C] NM_052924 RHPN1 EXON Missense_R528W exm726380 8 144463859 [A/G] NM_052924 RHPN1 EXON Missense_A536T exm726390 8 144464073 [A/G] NM_052924 RHPN1 EXON Missense_A578T exm726391 8 144464074 [T/C] NM_052924 RHPN1 EXON Missense_A578V exm726403 8 144464795 [A/T] NM_052924 RHPN1 EXON Missense_S663T exm726409 8 144511647 [G/C] NM_201589 MAFA EXON Nonsense_Y310X exm2164994 8 144512545 [A/G] NM_201589 MAFA EXON Missense_L11P exm726455 8 144522247 [A/C] NM_015117 ZC3H3 EXON Missense_V927F exm726457 8 144522278 [G/C] NM_015117 ZC3H3 EXON Missense_Q916H exm726461 8 144522387 [T/G] NM_015117 ZC3H3 EXON Nonsense_S880X exm726464 8 144522399 [A/G] NM_015117 ZC3H3 EXON Missense_S876F exm726469 8 144522457 [A/G] NM_015117 ZC3H3 EXON Missense_P857S exm726472 8 144522498 [A/G] NM_015117 ZC3H3 EXON Missense_T843M exm726488 8 144547942 [T/C] NM_015117 ZC3H3 EXON Missense_R751H exm726514 8 144557582 [T/G] NM_015117 ZC3H3 EXON Missense_P630H exm726521 8 144557681 [T/C] NM_015117 ZC3H3 EXON Missense_R597Q exm726524 8 144557739 [A/G] NM_015117 ZC3H3 EXON Missense_R578C exm726528 8 144589941 [A/G] NM_015117 ZC3H3 EXON Missense_R564W exm726530 8 144589963 [G/C] NM_015117 ZC3H3 EXON Missense_F556L exm726537 8 144589985 [A/G] NM_015117 ZC3H3 EXON Missense_S549L exm726539 8 144589991 [A/G] NM_015117 ZC3H3 EXON Missense_P547L exm726542 8 144590049 [A/G] NM_015117 ZC3H3 EXON Missense_R528W exm726545 8 144590064 [T/C] NM_015117 ZC3H3 EXON Missense_S523G exm726547 8 144590069 [A/G] NM_015117 ZC3H3 EXON Missense_A521V exm726556 8 144618480 [T/G] NM_015117 ZC3H3 EXON Missense_T503K exm726562 8 144618562 [A/G] NM_015117 ZC3H3 EXON Missense_L476F exm726563 8 144618580 [T/C] NM_015117 ZC3H3 EXON Missense_A470T exm726568 8 144620183 [T/C] NM_015117 ZC3H3 EXON Missense_S452G exm726571 8 144620210 [T/C] NM_015117 ZC3H3 EXON Missense_S443G exm726574 8 144620246 [A/G] NM_015117 ZC3H3 EXON Missense_S431P exm726578 8 144620290 [A/G] NM_015117 ZC3H3 EXON Missense_S416L exm726579 8 144620293 [A/G] NM_015117 ZC3H3 EXON Missense_P415L exm726584 8 144620328 [A/C] NM_015117 ZC3H3 EXON Missense_H403Q exm726586 8 144620342 [T/C] NM_015117 ZC3H3 EXON Missense_S399G exm726593 8 144620485 [A/G] NM_015117 ZC3H3 EXON Missense_P351L exm726599 8 144620584 [A/G] NM_015117 ZC3H3 EXON Missense_S318L exm726600 8 144620618 [A/G] NM_015117 ZC3H3 EXON Missense_R307W exm726603 8 144620660 [A/G] NM_015117 ZC3H3 EXON Missense_R293W exm726611 8 144620783 [T/C] NM_015117 ZC3H3 EXON Missense_V252M exm726612 8 144620803 [T/C] NM_015117 ZC3H3 EXON Missense_R245Q exm726614 8 144620837 [T/C] NM_015117 ZC3H3 EXON Missense_A234T exm726616 8 144620855 [A/C] NM_015117 ZC3H3 EXON Missense_A228S exm2165040 8 144620861 [T/C] NM_015117 ZC3H3 EXON Missense_V226I exm726620 8 144620891 [A/G] NM_015117 ZC3H3 EXON Missense_R216C exm726622 8 144620900 [A/G] NM_015117 ZC3H3 EXON Missense_R213W exm726630 8 144621035 [A/G] NM_015117 ZC3H3 EXON Missense_R168W exm726631 8 144621058 [T/C] NM_015117 ZC3H3 EXON Missense_R160Q exm726634 8 144621084 [T/G] NM_015117 ZC3H3 EXON Missense_E151D exm726635 8 144621091 [T/A] NM_015117 ZC3H3 EXON Missense_F149Y exm726636 8 144621122 [A/G] NM_015117 ZC3H3 EXON Missense_S139P exm726654 8 144621371 [A/G] NM_015117 ZC3H3 EXON Missense_R56C exm726655 8 144621379 [T/C] NM_015117 ZC3H3 EXON Missense_R53H exm726688 8 144641949 [A/G] NM_001166237,NM_024736 GSDMD,GSDMD EXON Missense_V74M,Missense_V74M exm2165063 8 144641997 [A/G] NM_001166237,NM_024736 GSDMD,GSDMD EXON Missense_I90V,Missense_I90V exm726696 8 144642054 [A/G] NM_001166237,NM_024736 GSDMD,GSDMD EXON Missense_A109T,Missense_A109T exm726717 8 144642918 [A/C] NM_001166237,NM_024736 GSDMD,GSDMD EXON Missense_L186M,Missense_L186M exm726722 8 144643206 [T/C] NM_001166237,NM_024736 GSDMD,GSDMD EXON Missense_T205M,Missense_T205M exm726731 8 144643548 [T/C] NM_001166237,NM_024736 GSDMD,GSDMD EXON Missense_L231F,Missense_L231F exm726733 8 144643575 [T/C] NM_001166237,NM_024736 GSDMD,GSDMD EXON Missense_F240L,Missense_F240L exm2258713 8 144643919 [A/G] NM_001166237,NM_024736 GSDMD,GSDMD EXON Synonymous_K248K,Synonymous_K248K exm726739 8 144643921 [A/G] NM_001166237,NM_024736 GSDMD,GSDMD EXON Missense_R249H,Missense_R249H exm726740 8 144643932 [A/G] NM_001166237,NM_024736 GSDMD,GSDMD EXON Missense_E253K,Missense_E253K exm726749 8 144644231 [A/G] NM_001166237,NM_024736 GSDMD,GSDMD EXON Missense_C309Y,Missense_C309Y exm726770 8 144644648 [T/C] NM_001166237,NM_024736 GSDMD,GSDMD EXON Missense_A390V,Missense_A390V exm726774 8 144644666 [A/G] NM_001166237,NM_024736 GSDMD,GSDMD EXON Missense_Q396R,Missense_Q396R exm726776 8 144644686 [A/G] NM_001166237,NM_024736 GSDMD,GSDMD EXON Missense_E403K,Missense_E403K exm2165078 8 144644919 [A/G] NM_001166237,NM_024736 GSDMD,GSDMD EXON Missense_E434K,Missense_E434K exm2165079 8 144644970 [A/G] NM_001166237,NM_024736 GSDMD,GSDMD EXON Missense_E451K,Missense_E451K exm726783 8 144644976 [A/G] NM_001166237,NM_024736 GSDMD,GSDMD EXON Missense_T453A,Missense_T453A exm726805 8 144650013 [C/G] NM_001100878 MROH6 EXON Missense_Q604E exm2165090 8 144650059 [G/C] NM_001100878 MROH6 Silent exm726825 8 144651881 [T/G] NM_001100878 MROH6 EXON Missense_L430M exm726828 8 144651952 [A/G] NM_001100878 MROH6 EXON Missense_L406P exm726831 8 144652149 [C/G] NM_001100878 MROH6 EXON Missense_R377P exm726833 8 144652156 [A/G] NM_001100878 MROH6 EXON Missense_P375S exm2276034 8 144652176 [G/C] NM_001100878 MROH6 EXON Missense_R368P exm726847 8 144652661 [A/G] NM_001100878 MROH6 EXON Missense_P296L exm726848 8 144652668 [A/G] NM_001100878 MROH6 EXON Nonsense_R294X exm726854 8 144652745 [A/G] NM_001100878 MROH6 EXON Missense_A268V exm726856 8 144652775 [A/G] NM_001100878 MROH6 EXON Missense_T258M exm726880 8 144654226 [A/G] NM_001100878 MROH6 EXON Missense_R142W exm726882 8 144654249 [A/G] NM_001100878 MROH6 EXON Missense_T134I exm726887 8 144654303 [A/G] NM_001100878 MROH6 EXON Missense_T116M exm726892 8 144654594 [T/G] NM_001100878 MROH6 EXON Missense_H97Q exm726898 8 144654674 [A/G] NM_001100878 MROH6 EXON Missense_R71C exm726903 8 144654730 [T/G] NM_001100878 MROH6 EXON Missense_P52H exm726905 8 144654797 [T/C] NM_001100878 MROH6 EXON Missense_A30T exm726925 8 144657182 [A/G] NM_145201 NAPRT1 EXON Missense_R510W exm2273452 8 144657252 [T/C] NM_145201 NAPRT1 EXON Synonymous_P486P exm-rs2290416 8 144657600 [A/G] NM_145201 NAPRT1 EXON Synonymous_G428G exm726949 8 144657653 [T/C] NM_145201 NAPRT1 EXON Missense_D411N exm726953 8 144657686 [T/C] NM_145201 NAPRT1 EXON Missense_V400M exm2165145 8 144658256 [T/C] NM_145201 NAPRT1 EXON Missense_A367T exm726959 8 144658270 [A/G] NM_145201 NAPRT1 EXON Missense_A362V exm726962 8 144658298 [T/C] NM_145201 NAPRT1 EXON Missense_V353I exm2165148 8 144658629 [T/C] NM_145201 NAPRT1 EXON Missense_R332H exm726970 8 144658630 [A/G] NM_145201 NAPRT1 EXON Missense_R332C exm726975 8 144658707 [A/G] NM_145201 NAPRT1 EXON Missense_A306V exm726978 8 144658716 [A/G] NM_145201 NAPRT1 EXON Missense_V303A exm726984 8 144658891 [T/C] NM_145201 NAPRT1 EXON Missense_R269Q exm726988 8 144658969 [A/G] NM_145201 NAPRT1 EXON Missense_A243V exm726992 8 144659005 [A/G] NM_145201 NAPRT1 EXON Missense_A231V exm726995 8 144659232 [T/C] NM_145201 NAPRT1 EXON Synonymous_P228P exm727038 8 144660106 [C/G] NM_145201 NAPRT1 EXON Missense_Q78H exm727043 8 144660319 [A/G] NM_145201 NAPRT1 EXON Missense_A57V exm727048 8 144661982 [T/C] NM_032378,NM_001130056,NM_001130055,NM_001130057,NM_001960,NM_001195203,NM_001130053 EEF1D,EEF1D,EEF1D,EEF1D,EEF1D,EEF1D,EEF1D EXON Missense_A642T,Missense_A252T,Missense_A276T,Missense_A276T,Missense_A276T,Missense_A257T,Missense_A642T exm727053 8 144662198 [G/C] NM_032378,NM_001130056,NM_001130055,NM_001130057,NM_001960,NM_001195203,NM_001130053 EEF1D,EEF1D,EEF1D,EEF1D,EEF1D,EEF1D,EEF1D EXON Missense_T630S,Missense_T240S,Missense_T264S,Missense_T264S,Missense_T264S,Missense_T245S,Missense_T630S exm727082 8 144662882 [A/G] NM_032378,NM_001130056,NM_001130055,NM_001130057,NM_001960,NM_001195203,NM_001130053 EEF1D,EEF1D,EEF1D,EEF1D,EEF1D,EEF1D,EEF1D EXON Missense_R502C,Missense_R112C,Missense_R136C,Missense_R136C,Missense_R136C,Missense_R117C,Missense_R502C exm2258715 8 144663466 [A/G] NM_032378,NM_001130056,NM_001130055,NM_001130057,NM_001960,NM_001195203,NM_001130053 EEF1D,EEF1D,EEF1D,EEF1D,EEF1D,EEF1D,EEF1D EXON Synonymous_S440S,Synonymous_S50S,Synonymous_S74S,Synonymous_S74S,Synonymous_S74S,Synonymous_S74S,Synonymous_S440S exm727102 8 144668405 [T/C] NM_032378,NM_001130056,NM_001130055,NM_001130057,NM_001960,NM_001195203,NM_001130053 EEF1D,EEF1D,EEF1D,EEF1D,EEF1D,EEF1D,EEF1D EXON Missense_Q424R,Silent,Missense_Q58R,Missense_Q58R,Missense_Q58R,Missense_Q58R,Missense_Q424R exm727114 8 144671170 [A/C] NM_032378,NM_001130056,NM_001130055,NM_001130057,NM_001960,NM_001195203,NM_001130053 EEF1D,EEF1D,EEF1D,EEF1D,EEF1D,EEF1D,EEF1D EXON Missense_L361R,Silent,Silent,Silent,Silent,Silent,Missense_L361R exm727115 8 144671194 [T/C] NM_032378,NM_001130056,NM_001130055,NM_001130057,NM_001960,NM_001195203,NM_001130053 EEF1D,EEF1D,EEF1D,EEF1D,EEF1D,EEF1D,EEF1D EXON Missense_R353Q,Silent,Silent,Silent,Silent,Silent,Missense_R353Q exm727116 8 144671195 [A/G] NM_032378,NM_001130056,NM_001130055,NM_001130057,NM_001960,NM_001195203,NM_001130053 EEF1D,EEF1D,EEF1D,EEF1D,EEF1D,EEF1D,EEF1D EXON Missense_R353W,Silent,Silent,Silent,Silent,Silent,Missense_R353W exm727124 8 144671279 [T/C] NM_032378,NM_001130056,NM_001130055,NM_001130057,NM_001960,NM_001195203,NM_001130053 EEF1D,EEF1D,EEF1D,EEF1D,EEF1D,EEF1D,EEF1D EXON Missense_A325T,Silent,Silent,Silent,Silent,Silent,Missense_A325T exm727129 8 144671369 [T/C] NM_032378,NM_001130056,NM_001130055,NM_001130057,NM_001960,NM_001195203,NM_001130053 EEF1D,EEF1D,EEF1D,EEF1D,EEF1D,EEF1D,EEF1D EXON Missense_D295N,Silent,Silent,Silent,Silent,Silent,Missense_D295N exm727138 8 144671456 [T/C] NM_032378,NM_001130056,NM_001130055,NM_001130057,NM_001960,NM_001195203,NM_001130053 EEF1D,EEF1D,EEF1D,EEF1D,EEF1D,EEF1D,EEF1D EXON Missense_G266S,Silent,Silent,Silent,Silent,Silent,Missense_G266S exm727142 8 144671479 [T/C] NM_032378,NM_001130056,NM_001130055,NM_001130057,NM_001960,NM_001195203,NM_001130053 EEF1D,EEF1D,EEF1D,EEF1D,EEF1D,EEF1D,EEF1D EXON Missense_K258R,Silent,Silent,Silent,Silent,Silent,Missense_K258R exm2165207 8 144671674 [G/C] NM_032378,NM_001130056,NM_001130055,NM_001130057,NM_001960,NM_001195203,NM_001130053 EEF1D,EEF1D,EEF1D,EEF1D,EEF1D,EEF1D,EEF1D EXON Missense_R193T,Silent,Silent,Silent,Silent,Silent,Missense_R193T exm727162 8 144671776 [A/G] NM_032378,NM_001130056,NM_001130055,NM_001130057,NM_001960,NM_001195203,NM_001130053 EEF1D,EEF1D,EEF1D,EEF1D,EEF1D,EEF1D,EEF1D EXON Missense_V159A,Silent,Silent,Silent,Silent,Silent,Missense_V159A exm727165 8 144671848 [T/C] NM_032378,NM_001130056,NM_001130055,NM_001130057,NM_001960,NM_001195203,NM_001130053 EEF1D,EEF1D,EEF1D,EEF1D,EEF1D,EEF1D,EEF1D EXON Missense_Q135R,Silent,Silent,Silent,Silent,Silent,Missense_Q135R exm727169 8 144671905 [A/G] NM_032378,NM_001130056,NM_001130055,NM_001130057,NM_001960,NM_001195203,NM_001130053 EEF1D,EEF1D,EEF1D,EEF1D,EEF1D,EEF1D,EEF1D EXON Missense_S116L,Silent,Silent,Silent,Silent,Silent,Missense_S116L exm727174 8 144671945 [A/G] NM_032378,NM_001130056,NM_001130055,NM_001130057,NM_001960,NM_001195203,NM_001130053 EEF1D,EEF1D,EEF1D,EEF1D,EEF1D,EEF1D,EEF1D EXON Missense_L103F,Silent,Silent,Silent,Silent,Silent,Missense_L103F exm727177 8 144671956 [A/G] NM_032378,NM_001130056,NM_001130055,NM_001130057,NM_001960,NM_001195203,NM_001130053 EEF1D,EEF1D,EEF1D,EEF1D,EEF1D,EEF1D,EEF1D EXON Missense_A99V,Silent,Silent,Silent,Silent,Silent,Missense_A99V exm2258716 8 144672006 [T/C] NM_032378,NM_001130056,NM_001130055,NM_001130057,NM_001960,NM_001195203,NM_001130053 EEF1D,EEF1D,EEF1D,EEF1D,EEF1D,EEF1D,EEF1D EXON Synonymous_K82K,Silent,Silent,Silent,Silent,Silent,Synonymous_K82K exm727184 8 144672035 [T/C] NM_032378,NM_001130056,NM_001130055,NM_001130057,NM_001960,NM_001195203,NM_001130053 EEF1D,EEF1D,EEF1D,EEF1D,EEF1D,EEF1D,EEF1D EXON Missense_D73N,Silent,Silent,Silent,Silent,Silent,Missense_D73N exm727185 8 144672047 [T/C] NM_032378,NM_001130056,NM_001130055,NM_001130057,NM_001960,NM_001195203,NM_001130053 EEF1D,EEF1D,EEF1D,EEF1D,EEF1D,EEF1D,EEF1D EXON Missense_G69S,Silent,Silent,Silent,Silent,Silent,Missense_G69S exm727197 8 144672143 [A/C] NM_032378,NM_001130056,NM_001130055,NM_001130057,NM_001960,NM_001195203,NM_001130053 EEF1D,EEF1D,EEF1D,EEF1D,EEF1D,EEF1D,EEF1D EXON Missense_A37S,Silent,Silent,Silent,Silent,Silent,Missense_A37S exm727199 8 144672164 [T/G] NM_032378,NM_001130056,NM_001130055,NM_001130057,NM_001960,NM_001195203,NM_001130053 EEF1D,EEF1D,EEF1D,EEF1D,EEF1D,EEF1D,EEF1D EXON Missense_H30N,Silent,Silent,Silent,Silent,Silent,Missense_H30N exm727205 8 144672215 [T/C] NM_032378,NM_001130056,NM_001130055,NM_001130057,NM_001960,NM_001195203,NM_001130053 EEF1D,EEF1D,EEF1D,EEF1D,EEF1D,EEF1D,EEF1D EXON Missense_V13M,Silent,Silent,Silent,Silent,Silent,Missense_V13M exm727234 8 144681397 [A/G] NM_032862 TIGD5 EXON Missense_S442G exm727243 8 144681777 [T/G] NM_032862 TIGD5 EXON Missense_M568I exm727245 8 144681847 [A/G] NM_032862 TIGD5 EXON Missense_V592M exm727246 8 144681880 [A/G] NM_032862 TIGD5 EXON Missense_E603K exm2276035 8 144687896 [A/G] NM_023078 PYCRL EXON Missense_R279W exm727259 8 144687901 [A/G] NM_023078 PYCRL EXON Missense_T277I exm727279 8 144688309 [T/C] NM_023078 PYCRL EXON Missense_E201K exm727293 8 144688830 [T/C] NM_023078 PYCRL EXON Missense_R131Q exm727294 8 144688837 [T/C] NM_023078 PYCRL EXON Missense_N129D exm727299 8 144689146 [T/C] NM_023078 PYCRL EXON Missense_V117M exm727304 8 144689289 [T/C] NM_023078 PYCRL EXON Missense_R69Q exm727305 8 144689290 [A/G] NM_023078 PYCRL EXON Missense_R69W exm727309 8 144690264 [T/C] NM_023078 PYCRL EXON Missense_A54T exm727352 8 144696389 [A/G] NM_003313 TSTA3 EXON Missense_S203L exm727373 8 144696808 [A/G] NM_003313 TSTA3 EXON Synonymous_I150I exm727377 8 144696839 [T/C] NM_003313 TSTA3 EXON Missense_N140S exm727390 8 144698305 [A/G] NM_003313 TSTA3 EXON Missense_R78W exm727394 8 144698374 [A/G] NM_003313 TSTA3 EXON Missense_R55C exm727400 8 144698746 [A/G] NM_003313 TSTA3 EXON Missense_A46V exm727405 8 144698857 [T/C] NM_003313 TSTA3 EXON Missense_R9Q exm727408 8 144732044 [T/C] NM_001261843,NM_001082480,NM_014789 ZNF623,ZNF623,ZNF623 EXON Silent,Silent,Missense_M1T exm727412 8 144732092 [A/G] NM_001261843,NM_001082480,NM_014789 ZNF623,ZNF623,ZNF623 EXON Silent,Silent,Missense_K17R exm727415 8 144732158 [T/C] NM_001261843,NM_001082480,NM_014789 ZNF623,ZNF623,ZNF623 EXON Silent,Silent,Missense_T39M exm2165277 8 144732181 [A/G] NM_001261843,NM_001082480,NM_014789 ZNF623,ZNF623,ZNF623 EXON Missense_E7K,Missense_E7K,Missense_E47K exm727419 8 144732319 [A/G] NM_001261843,NM_001082480,NM_014789 ZNF623,ZNF623,ZNF623 EXON Missense_T53A,Missense_T53A,Missense_T93A exm727428 8 144732418 [A/G] NM_001261843,NM_001082480,NM_014789 ZNF623,ZNF623,ZNF623 EXON Missense_N86D,Missense_N86D,Missense_N126D exm727432 8 144732488 [A/T] NM_001261843,NM_001082480,NM_014789 ZNF623,ZNF623,ZNF623 EXON Missense_K109I,Missense_K109I,Missense_K149I exm727445 8 144732671 [T/C] NM_001261843,NM_001082480,NM_014789 ZNF623,ZNF623,ZNF623 EXON Missense_A170V,Missense_A170V,Missense_A210V exm727447 8 144732743 [T/C] NM_001261843,NM_001082480,NM_014789 ZNF623,ZNF623,ZNF623 EXON Missense_P194L,Missense_P194L,Missense_P234L exm727455 8 144732985 [A/G] NM_001261843,NM_001082480,NM_014789 ZNF623,ZNF623,ZNF623 EXON Missense_G275R,Missense_G275R,Missense_G315R exm727460 8 144733118 [T/C] NM_001261843,NM_001082480,NM_014789 ZNF623,ZNF623,ZNF623 EXON Missense_T319M,Missense_T319M,Missense_T359M exm727475 8 144733508 [A/G] NM_001261843,NM_001082480,NM_014789 ZNF623,ZNF623,ZNF623 EXON Missense_C449Y,Missense_C449Y,Missense_C489Y exm727477 8 144733523 [A/G] NM_001261843,NM_001082480,NM_014789 ZNF623,ZNF623,ZNF623 EXON Missense_R454K,Missense_R454K,Missense_R494K exm727481 8 144733563 [C/G] NM_001261843,NM_001082480,NM_014789 ZNF623,ZNF623,ZNF623 EXON Missense_R467S,Missense_R467S,Missense_R507S exm2266706 8 144764119 [A/G] exm727487 8 144772282 [A/G] NM_001100598,NM_001100599,NM_173831 ZNF707,ZNF707,ZNF707 EXON Missense_D2N,Missense_D2N,Missense_D2N exm727488 8 144772285 [A/G] NM_001100598,NM_001100599,NM_173831 ZNF707,ZNF707,ZNF707 EXON Missense_M3V,Missense_M3V,Missense_M3V exm727500 8 144775871 [A/C] NM_001100598,NM_001100599,NM_173831 ZNF707,ZNF707,ZNF707 EXON Missense_P96H,Missense_P96H,Missense_P96H exm727501 8 144775886 [G/C] NM_001100598,NM_001100599,NM_173831 ZNF707,ZNF707,ZNF707 EXON Missense_A101G,Missense_A101G,Missense_A101G exm727518 8 144776171 [T/C] NM_001100598,NM_001100599,NM_173831 ZNF707,ZNF707,ZNF707 EXON Missense_T196M,Missense_T196M,Missense_T196M exm727522 8 144776206 [A/G] NM_001100598,NM_001100599,NM_173831 ZNF707,ZNF707,ZNF707 EXON Missense_E208K,Missense_E208K,Missense_E208K exm727560 8 144789624 [T/C] NM_001162914 CCDC166 EXON Missense_K187R exm727578 8 144799903 [A/G] NM_139021 MAPK15 EXON Missense_G36S exm727580 8 144799912 [A/G] NM_139021 MAPK15 EXON Missense_V39M exm727582 8 144799945 [T/G] NM_139021 MAPK15 EXON Missense_D50Y exm727587 8 144800217 [A/C] NM_139021 MAPK15 EXON Synonymous_R56R exm727588 8 144800238 [A/C] NM_139021 MAPK15 EXON Missense_L63I exm727591 8 144800415 [T/C] NM_139021 MAPK15 EXON Missense_L77F exm727611 8 144801040 [G/C] NM_139021 MAPK15 EXON Missense_L128V exm2165335 8 144801164 [T/C] NM_139021 MAPK15 EXON Missense_P140L exm727616 8 144801230 [A/T] NM_139021 MAPK15 EXON Missense_L162Q exm727618 8 144801244 [A/G] NM_139021 MAPK15 EXON Missense_E167K exm727624 8 144801302 [T/C] NM_139021 MAPK15 EXON Missense_P186L exm727627 8 144801319 [T/C] NM_139021 MAPK15 EXON Missense_S192P exm727628 8 144801320 [A/C] NM_139021 MAPK15 EXON Nonsense_S192X exm727629 8 144801322 [T/C] NM_139021 MAPK15 EXON Missense_H193Y exm2165340 8 144801569 [A/G] NM_139021 MAPK15 EXON Missense_R213Q exm727650 8 144802456 [T/C] NM_139021 MAPK15 EXON Missense_R260W exm727657 8 144802884 [T/C] NM_139021 MAPK15 EXON Missense_T264M exm727662 8 144802959 [T/C] NM_139021 MAPK15 EXON Missense_P289L exm727663 8 144802977 [T/C] NM_139021 MAPK15 EXON Missense_A295V exm727671 8 144803220 [A/G] NM_139021 MAPK15 EXON Missense_R323Q exm727684 8 144803435 [T/C] NM_139021 MAPK15 EXON Missense_S353L exm727687 8 144803450 [T/C] NM_139021 MAPK15 EXON Missense_P358L exm727693 8 144803518 [A/C] NM_139021 MAPK15 EXON Missense_T381P exm727695 8 144803531 [A/G] NM_139021 MAPK15 EXON Missense_G385D exm727705 8 144803727 [T/C] NM_139021 MAPK15 EXON Missense_R405C exm727712 8 144803809 [A/G] NM_139021 MAPK15 EXON Missense_G432E exm727719 8 144803920 [A/G] NM_139021 MAPK15 Silent exm727722 8 144803934 [A/G] NM_139021 MAPK15 EXON Missense_G448R exm727725 8 144804015 [T/C] NM_139021 MAPK15 EXON Missense_R475W exm727735 8 144804272 [T/C] NM_139021 MAPK15 EXON Missense_R496W exm727739 8 144804299 [T/C] NM_139021 MAPK15 EXON Missense_S505P exm727763 8 144808293 [A/G] NM_198488 FAM83H EXON Missense_A1113V exm727780 8 144808545 [T/G] NM_198488 FAM83H EXON Missense_N1029T exm727786 8 144808572 [T/C] NM_198488 FAM83H EXON Missense_R1020Q exm727794 8 144808688 [T/C] NM_198488 FAM83H EXON Missense_M981I exm727795 8 144808693 [A/G] NM_198488 FAM83H EXON Missense_R980C exm727799 8 144808779 [A/G] NM_198488 FAM83H EXON Missense_A951V exm727810 8 144808926 [T/C] NM_198488 FAM83H EXON Missense_G902E exm727815 8 144808953 [T/G] NM_198488 FAM83H EXON Missense_P893Q exm727817 8 144808993 [T/C] NM_198488 FAM83H EXON Missense_G880R exm727818 8 144808998 [T/C] NM_198488 FAM83H EXON Missense_R878Q exm727840 8 144809473 [T/C] NM_198488 FAM83H EXON Missense_G720R exm727844 8 144809550 [T/A] NM_198488 FAM83H EXON Missense_E694V exm727880 8 144810306 [T/C] NM_198488 FAM83H EXON Missense_R442H exm727882 8 144810322 [A/G] NM_198488 FAM83H EXON Missense_H437Y exm727884 8 144810346 [A/C] NM_198488 FAM83H EXON Missense_V429L exm727909 8 144811338 [G/C] NM_198488 FAM83H EXON Missense_Q201H exm727910 8 144811340 [A/G] NM_198488 FAM83H EXON Nonsense_Q201X exm727919 8 144812307 [T/C] NM_198488 FAM83H EXON Missense_Q149R exm727947 8 144873405 [T/A] NM_015356,NM_182706 SCRIB,SCRIB EXON Missense_E1607D,Missense_E1632D exm727952 8 144873606 [A/G] NM_015356,NM_182706 SCRIB,SCRIB EXON Missense_P1567L,Missense_P1592L exm727998 8 144874992 [A/G] NM_015356,NM_182706 SCRIB,SCRIB EXON Missense_R1355W,Missense_R1355W exm2165434 8 144875154 [A/G] NM_015356,NM_182706 SCRIB,SCRIB EXON Missense_P1337S,Missense_P1337S exm728004 8 144875168 [A/G] NM_015356,NM_182706 SCRIB,SCRIB EXON Missense_P1332L,Missense_P1332L exm728005 8 144875184 [T/C] NM_015356,NM_182706 SCRIB,SCRIB EXON Missense_V1327M,Missense_V1327M exm728015 8 144876123 [G/C] NM_015356,NM_182706 SCRIB,SCRIB EXON Missense_G1286R,Missense_G1286R exm2258717 8 144877226 [A/G] NM_015356,NM_182706 SCRIB,SCRIB EXON Synonymous_S1276S,Synonymous_S1276S exm728035 8 144877618 [T/C] NM_015356,NM_182706 SCRIB,SCRIB EXON Missense_R1229Q,Missense_R1229Q exm728039 8 144877654 [T/G] NM_015356,NM_182706 SCRIB,SCRIB EXON Missense_H1217P,Missense_H1217P exm728040 8 144877658 [T/C] NM_015356,NM_182706 SCRIB,SCRIB EXON Missense_G1216S,Missense_G1216S exm728048 8 144885597 [C/G] NM_015356,NM_182706 SCRIB,SCRIB EXON Missense_L1187V,Missense_L1187V exm728049 8 144885600 [T/C] NM_015356,NM_182706 SCRIB,SCRIB EXON Missense_V1186M,Missense_V1186M exm728054 8 144885669 [C/G] NM_015356,NM_182706 SCRIB,SCRIB EXON Missense_Q1163E,Missense_Q1163E exm728056 8 144885701 [T/C] NM_015356,NM_182706 SCRIB,SCRIB EXON Missense_R1152H,Missense_R1152H exm728071 8 144886217 [T/G] NM_015356,NM_182706 SCRIB,SCRIB EXON Missense_K1040T,Missense_K1040T exm728075 8 144886269 [T/C] NM_015356,NM_182706 SCRIB,SCRIB EXON Missense_D1023N,Missense_D1023N exm728080 8 144886308 [A/C] NM_015356,NM_182706 SCRIB,SCRIB EXON Missense_A1010S,Missense_A1010S exm728090 8 144886809 [T/C] NM_015356,NM_182706 SCRIB,SCRIB EXON Missense_G980R,Missense_G980R exm728131 8 144887541 [T/C] NM_015356,NM_182706 SCRIB,SCRIB EXON Missense_G804D,Missense_G804D exm728143 8 144889183 [T/G] NM_015356,NM_182706 SCRIB,SCRIB EXON Missense_L727M,Missense_L727M exm728147 8 144890789 [A/G] NM_015356,NM_182706 SCRIB,SCRIB EXON Missense_P702L,Missense_P702L exm728149 8 144890814 [T/C] NM_015356,NM_182706 SCRIB,SCRIB EXON Missense_K694E,Missense_K694E exm728179 8 144891768 [T/C] NM_015356,NM_182706 SCRIB,SCRIB EXON Missense_A551T,Missense_A551T exm728186 8 144892654 [T/C] NM_015356,NM_182706 SCRIB,SCRIB EXON Missense_E509K,Missense_E509K exm728190 8 144892692 [T/C] NM_015356,NM_182706 SCRIB,SCRIB EXON Missense_C496Y,Missense_C496Y exm728194 8 144892719 [G/C] NM_015356,NM_182706 SCRIB,SCRIB EXON Missense_S487T,Missense_S487T exm728199 8 144892774 [T/C] NM_015356,NM_182706 SCRIB,SCRIB EXON Missense_G469S,Missense_G469S exm728208 8 144892941 [A/G] NM_015356,NM_182706 SCRIB,SCRIB EXON Missense_A440V,Missense_A440V exm728209 8 144892984 [T/C] NM_015356,NM_182706 SCRIB,SCRIB EXON Missense_D426N,Missense_D426N exm728211 8 144893084 [A/G] NM_015356,NM_182706 SCRIB,SCRIB EXON Missense_P422L,Missense_P422L exm2258719 8 144893221 [T/C] NM_015356,NM_182706 SCRIB,SCRIB EXON Synonymous_A376A,Synonymous_A376A exm728223 8 144893317 [A/G] NM_015356,NM_182706 SCRIB,SCRIB EXON Missense_R369C,Missense_R369C exm728262 8 144895495 [T/C] NM_015356,NM_182706 SCRIB,SCRIB EXON Missense_D185N,Missense_D185N exm728269 8 144895820 [T/C] NM_015356,NM_182706 SCRIB,SCRIB EXON Missense_G145R,Missense_G145R exm728278 8 144896066 [T/G] NM_015356,NM_182706 SCRIB,SCRIB EXON Missense_D93A,Missense_D93A exm2258720 8 144900096 [T/C] NM_001136033,NM_001271098,NM_014281,NM_001271097,NM_078480,NM_001271096,NM_001271099,NM_001271100 PUF60,PUF60,PUF60,PUF60,PUF60,PUF60,PUF60,PUF60 EXON Synonymous_K208K,Synonymous_K250K,Synonymous_K234K,Synonymous_K205K,Synonymous_K251K,Synonymous_K233K,Synonymous_K222K,Synonymous_K191K exm728374 8 144919284 [A/G] NM_178564 NRBP2 EXON Missense_L397P exm728396 8 144919852 [A/G] NM_178564 NRBP2 EXON Missense_L306F exm2258721 8 144919856 [A/G] NM_178564 NRBP2 EXON Synonymous_R304R exm728402 8 144920853 [T/C] NM_178564 NRBP2 EXON Missense_R280Q exm728404 8 144920886 [T/C] NM_178564 NRBP2 EXON Missense_R269H exm728414 8 144940217 [A/T] NM_031308 EPPK1 EXON Missense_Q2402L exm728468 8 144940647 [A/C] NM_031308 EPPK1 EXON Missense_A2259S exm728471 8 144940658 [T/C] NM_031308 EPPK1 EXON Missense_R2255Q exm728473 8 144940683 [A/G] NM_031308 EPPK1 EXON Nonsense_Q2247X exm728478 8 144940728 [A/G] NM_031308 EPPK1 EXON Missense_P2232S exm728479 8 144940733 [A/T] NM_031308 EPPK1 EXON Missense_L2230Q exm728485 8 144940779 [A/G] NM_031308 EPPK1 EXON Missense_R2215C exm728492 8 144940836 [T/C] NM_031308 EPPK1 EXON Missense_M2196V exm728495 8 144940863 [A/G] NM_031308 EPPK1 EXON Missense_L2187F exm728497 8 144940916 [T/C] NM_031308 EPPK1 EXON Missense_N2169S exm728499 8 144940929 [C/G] NM_031308 EPPK1 EXON Missense_Q2165E exm728506 8 144940959 [T/C] NM_031308 EPPK1 EXON Missense_A2155T exm728508 8 144940964 [A/G] NM_031308 EPPK1 EXON Missense_T2153M exm2165611 8 144941022 [T/C] NM_031308 EPPK1 EXON Missense_E2134K exm728520 8 144941081 [T/C] NM_031308 EPPK1 EXON Missense_R2114K exm728526 8 144941126 [A/G] NM_031308 EPPK1 EXON Missense_T2099M exm728528 8 144941133 [G/C] NM_031308 EPPK1 EXON Missense_D2097H exm728531 8 144941181 [C/G] NM_031308 EPPK1 EXON Missense_L2081V exm728532 8 144941198 [T/G] NM_031308 EPPK1 EXON Missense_Q2075P exm728533 8 144941204 [T/C] NM_031308 EPPK1 EXON Missense_R2073H exm728534 8 144941205 [A/G] NM_031308 EPPK1 EXON Missense_R2073C exm728536 8 144941229 [A/T] NM_031308 EPPK1 EXON Missense_Y2065N exm728538 8 144941238 [T/C] NM_031308 EPPK1 EXON Missense_K2062E exm728541 8 144941252 [A/G] NM_031308 EPPK1 EXON Missense_P2057L exm728546 8 144941325 [A/G] NM_031308 EPPK1 EXON Missense_R2033W exm728549 8 144941370 [T/C] NM_031308 EPPK1 EXON Missense_D2018N exm728559 8 144941529 [A/G] NM_031308 EPPK1 EXON Missense_R1965W exm728562 8 144941555 [T/C] NM_031308 EPPK1 EXON Missense_D1956G exm728578 8 144941723 [A/G] NM_031308 EPPK1 EXON Missense_A1900V exm728587 8 144941832 [T/C] NM_031308 EPPK1 EXON Missense_V1864I exm728589 8 144941879 [A/G] NM_031308 EPPK1 EXON Missense_A1848V exm728590 8 144941903 [A/G] NM_031308 EPPK1 EXON Missense_T1840M exm728596 8 144941990 [T/C] NM_031308 EPPK1 EXON Missense_R1811Q exm728604 8 144942069 [A/G] NM_031308 EPPK1 EXON Missense_R1785C exm728611 8 144942123 [T/C] NM_031308 EPPK1 EXON Missense_V1767M exm728636 8 144942305 [T/C] NM_031308 EPPK1 EXON Missense_R1706H exm728653 8 144942471 [T/C] NM_031308 EPPK1 EXON Missense_G1651S exm728655 8 144942477 [T/C] NM_031308 EPPK1 EXON Missense_V1649I exm728661 8 144942522 [A/G] NM_031308 EPPK1 EXON Missense_F1634L exm728665 8 144942570 [T/C] NM_031308 EPPK1 EXON Missense_V1618M exm2165633 8 144942718 [A/C] NM_031308 EPPK1 EXON Missense_E1568D exm728680 8 144942796 [A/C] NM_031308 EPPK1 EXON Missense_K1542N exm728687 8 144942903 [T/C] NM_031308 EPPK1 EXON Missense_T1507A exm728692 8 144942975 [A/G] NM_031308 EPPK1 EXON Missense_R1483W exm728697 8 144943023 [T/C] NM_031308 EPPK1 EXON Missense_V1467M exm728702 8 144943109 [G/C] NM_031308 EPPK1 EXON Missense_T1438R exm728706 8 144943179 [A/G] NM_031308 EPPK1 EXON Nonsense_Q1415X exm728709 8 144943196 [T/C] NM_031308 EPPK1 EXON Missense_R1409Q exm728711 8 144943223 [T/C] NM_031308 EPPK1 EXON Missense_N1400S exm728722 8 144943389 [T/C] NM_031308 EPPK1 EXON Missense_G1345R exm728723 8 144943442 [T/C] NM_031308 EPPK1 EXON Missense_Y1327C exm728724 8 144943446 [T/C] NM_031308 EPPK1 EXON Missense_G1326R exm728748 8 144943745 [A/G] NM_031308 EPPK1 EXON Missense_T1226M exm728750 8 144943784 [T/A] NM_031308 EPPK1 EXON Missense_I1213N exm728751 8 144943788 [T/C] NM_031308 EPPK1 EXON Missense_G1212S exm728775 8 144944067 [T/C] NM_031308 EPPK1 EXON Missense_A1119T exm728780 8 144944147 [T/C] NM_031308 EPPK1 EXON Missense_R1092H exm728781 8 144944148 [A/G] NM_031308 EPPK1 EXON Missense_R1092C exm728787 8 144944225 [T/C] NM_031308 EPPK1 EXON Missense_R1066H exm728792 8 144944298 [T/C] NM_031308 EPPK1 EXON Missense_A1042T exm728802 8 144944474 [A/G] NM_031308 EPPK1 EXON Missense_S983L exm728815 8 144944735 [A/C] NM_031308 EPPK1 EXON Missense_G896V exm728817 8 144944771 [T/C] NM_031308 EPPK1 EXON Missense_R884Q exm728819 8 144944807 [A/G] NM_031308 EPPK1 EXON Missense_T872M exm728824 8 144944850 [T/C] NM_031308 EPPK1 EXON Missense_E858K exm728827 8 144944858 [T/C] NM_031308 EPPK1 EXON Missense_R855Q exm728835 8 144945012 [A/G] NM_031308 EPPK1 EXON Missense_P804S exm728838 8 144945092 [T/G] NM_031308 EPPK1 EXON Missense_T777K exm728843 8 144945191 [T/C] NM_031308 EPPK1 EXON Missense_Y744C exm728860 8 144945386 [A/G] NM_031308 EPPK1 EXON Missense_A679V exm728865 8 144945510 [T/C] NM_031308 EPPK1 EXON Missense_G638S exm728870 8 144945596 [A/G] NM_031308 EPPK1 EXON Missense_T609M exm728871 8 144945618 [T/C] NM_031308 EPPK1 EXON Missense_V602M exm728877 8 144945753 [T/C] NM_031308 EPPK1 EXON Missense_R557G exm728879 8 144945792 [T/C] NM_031308 EPPK1 EXON Missense_K544E exm728887 8 144945912 [A/G] NM_031308 EPPK1 EXON Missense_R504W exm728890 8 144945944 [A/G] NM_031308 EPPK1 EXON Missense_T493M exm728897 8 144946092 [T/C] NM_031308 EPPK1 EXON Missense_G444S exm728898 8 144946101 [T/C] NM_031308 EPPK1 EXON Missense_G441S exm728906 8 144946188 [A/G] NM_031308 EPPK1 EXON Missense_R412W exm728907 8 144946197 [A/G] NM_031308 EPPK1 EXON Missense_R409C exm728912 8 144946271 [T/C] NM_031308 EPPK1 EXON Missense_G384E exm728946 8 144946763 [T/C] NM_031308 EPPK1 EXON Missense_R220H exm728948 8 144946799 [T/C] NM_031308 EPPK1 EXON Missense_R208Q exm728951 8 144946818 [T/C] NM_031308 EPPK1 EXON Missense_D202N exm728960 8 144947073 [A/G] NM_031308 EPPK1 EXON Missense_R117C exm728962 8 144947117 [A/C] NM_031308 EPPK1 EXON Missense_G102V exm728963 8 144947129 [A/G] NM_031308 EPPK1 EXON Missense_A98V exm728971 8 144947235 [A/G] NM_031308 EPPK1 EXON Nonsense_Q63X exm728972 8 144947245 [A/G] NM_031308 EPPK1 EXON Synonymous_A59A exm728974 8 144947319 [A/G] NM_031308 EPPK1 EXON Missense_P35S exm728976 8 144947325 [T/C] NM_031308 EPPK1 EXON Missense_G33S exm728992 8 144990587 [T/C] NM_201381,NM_000445,NM_201383,NM_201380,NM_201384,NM_201382,NM_201379,NM_201378 PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC EXON Missense_A4436T,Missense_A4495T,Missense_A4472T,Missense_A4605T,Missense_A4468T,Missense_A4468T,Missense_A4446T,Missense_A4454T exm729003 8 144990742 [A/G] NM_201381,NM_000445,NM_201383,NM_201380,NM_201384,NM_201382,NM_201379,NM_201378 PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC EXON Missense_T4384M,Missense_T4443M,Missense_T4420M,Missense_T4553M,Missense_T4416M,Missense_T4416M,Missense_T4394M,Missense_T4402M exm729007 8 144990784 [A/G] NM_201381,NM_000445,NM_201383,NM_201380,NM_201384,NM_201382,NM_201379,NM_201378 PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC EXON Missense_T4370M,Missense_T4429M,Missense_T4406M,Missense_T4539M,Missense_T4402M,Missense_T4402M,Missense_T4380M,Missense_T4388M exm2258724 8 144990840 [A/G] NM_201381,NM_000445,NM_201383,NM_201380,NM_201384,NM_201382,NM_201379,NM_201378 PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC EXON Synonymous_A4351A,Synonymous_A4410A,Synonymous_A4387A,Synonymous_A4520A,Synonymous_A4383A,Synonymous_A4383A,Synonymous_A4361A,Synonymous_A4369A exm729011 8 144990878 [T/C] NM_201381,NM_000445,NM_201383,NM_201380,NM_201384,NM_201382,NM_201379,NM_201378 PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC EXON Missense_A4339T,Missense_A4398T,Missense_A4375T,Missense_A4508T,Missense_A4371T,Missense_A4371T,Missense_A4349T,Missense_A4357T exm729021 8 144990983 [T/C] NM_201381,NM_000445,NM_201383,NM_201380,NM_201384,NM_201382,NM_201379,NM_201378 PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC EXON Missense_V4304I,Missense_V4363I,Missense_V4340I,Missense_V4473I,Missense_V4336I,Missense_V4336I,Missense_V4314I,Missense_V4322I exm729024 8 144990997 [A/G] NM_201381,NM_000445,NM_201383,NM_201380,NM_201384,NM_201382,NM_201379,NM_201378 PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC EXON Missense_P4299L,Missense_P4358L,Missense_P4335L,Missense_P4468L,Missense_P4331L,Missense_P4331L,Missense_P4309L,Missense_P4317L exm729035 8 144991082 [T/C] NM_201381,NM_000445,NM_201383,NM_201380,NM_201384,NM_201382,NM_201379,NM_201378 PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC EXON Missense_V4271M,Missense_V4330M,Missense_V4307M,Missense_V4440M,Missense_V4303M,Missense_V4303M,Missense_V4281M,Missense_V4289M exm729041 8 144991172 [A/G] NM_201381,NM_000445,NM_201383,NM_201380,NM_201384,NM_201382,NM_201379,NM_201378 PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC EXON Missense_P4241S,Missense_P4300S,Missense_P4277S,Missense_P4410S,Missense_P4273S,Missense_P4273S,Missense_P4251S,Missense_P4259S exm729043 8 144991205 [T/C] NM_201381,NM_000445,NM_201383,NM_201380,NM_201384,NM_201382,NM_201379,NM_201378 PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC EXON Missense_V4230I,Missense_V4289I,Missense_V4266I,Missense_V4399I,Missense_V4262I,Missense_V4262I,Missense_V4240I,Missense_V4248I exm2246570 8 144991208 [T/C] NM_201381,NM_000445,NM_201383,NM_201380,NM_201384,NM_201382,NM_201379,NM_201378 PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC EXON Missense_A4229T,Missense_A4288T,Missense_A4265T,Missense_A4398T,Missense_A4261T,Missense_A4261T,Missense_A4239T,Missense_A4247T exm729048 8 144991271 [T/C] NM_201381,NM_000445,NM_201383,NM_201380,NM_201384,NM_201382,NM_201379,NM_201378 PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC EXON Missense_A4208T,Missense_A4267T,Missense_A4244T,Missense_A4377T,Missense_A4240T,Missense_A4240T,Missense_A4218T,Missense_A4226T exm729055 8 144991312 [A/G] NM_201381,NM_000445,NM_201383,NM_201380,NM_201384,NM_201382,NM_201379,NM_201378 PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC EXON Missense_T4194M,Missense_T4253M,Missense_T4230M,Missense_T4363M,Missense_T4226M,Missense_T4226M,Missense_T4204M,Missense_T4212M exm729061 8 144991342 [T/C] NM_201381,NM_000445,NM_201383,NM_201380,NM_201384,NM_201382,NM_201379,NM_201378 PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC EXON Missense_R4184H,Missense_R4243H,Missense_R4220H,Missense_R4353H,Missense_R4216H,Missense_R4216H,Missense_R4194H,Missense_R4202H exm2258725 8 144991347 [A/G] NM_201381,NM_000445,NM_201383,NM_201380,NM_201384,NM_201382,NM_201379,NM_201378 PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC EXON Synonymous_I4182I,Synonymous_I4241I,Synonymous_I4218I,Synonymous_I4351I,Synonymous_I4214I,Synonymous_I4214I,Synonymous_I4192I,Synonymous_I4200I exm729063 8 144991361 [T/C] NM_201381,NM_000445,NM_201383,NM_201380,NM_201384,NM_201382,NM_201379,NM_201378 PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC EXON Missense_A4178T,Missense_A4237T,Missense_A4214T,Missense_A4347T,Missense_A4210T,Missense_A4210T,Missense_A4188T,Missense_A4196T exm729076 8 144991514 [A/G] NM_201381,NM_000445,NM_201383,NM_201380,NM_201384,NM_201382,NM_201379,NM_201378 PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC EXON Missense_R4127C,Missense_R4186C,Missense_R4163C,Missense_R4296C,Missense_R4159C,Missense_R4159C,Missense_R4137C,Missense_R4145C exm2165673 8 144991612 [T/C] NM_201381,NM_000445,NM_201383,NM_201380,NM_201384,NM_201382,NM_201379,NM_201378 PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC EXON Missense_R4094Q,Missense_R4153Q,Missense_R4130Q,Missense_R4263Q,Missense_R4126Q,Missense_R4126Q,Missense_R4104Q,Missense_R4112Q exm729088 8 144991669 [T/C] NM_201381,NM_000445,NM_201383,NM_201380,NM_201384,NM_201382,NM_201379,NM_201378 PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC EXON Missense_R4075H,Missense_R4134H,Missense_R4111H,Missense_R4244H,Missense_R4107H,Missense_R4107H,Missense_R4085H,Missense_R4093H exm2165674 8 144991773 [A/G] NM_201381,NM_000445,NM_201383,NM_201380,NM_201384,NM_201382,NM_201379,NM_201378 PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC EXON Synonymous_F4040F,Synonymous_F4099F,Synonymous_F4076F,Synonymous_F4209F,Synonymous_F4072F,Synonymous_F4072F,Synonymous_F4050F,Synonymous_F4058F exm729096 8 144991781 [T/C] NM_201381,NM_000445,NM_201383,NM_201380,NM_201384,NM_201382,NM_201379,NM_201378 PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC EXON Missense_G4038S,Missense_G4097S,Missense_G4074S,Missense_G4207S,Missense_G4070S,Missense_G4070S,Missense_G4048S,Missense_G4056S exm729099 8 144991799 [T/C] NM_201381,NM_000445,NM_201383,NM_201380,NM_201384,NM_201382,NM_201379,NM_201378 PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC EXON Missense_E4032K,Missense_E4091K,Missense_E4068K,Missense_E4201K,Missense_E4064K,Missense_E4064K,Missense_E4042K,Missense_E4050K exm729100 8 144991802 [T/C] NM_201381,NM_000445,NM_201383,NM_201380,NM_201384,NM_201382,NM_201379,NM_201378 PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC EXON Missense_V4031M,Missense_V4090M,Missense_V4067M,Missense_V4200M,Missense_V4063M,Missense_V4063M,Missense_V4041M,Missense_V4049M exm2165676 8 144991925 [A/G] NM_201381,NM_000445,NM_201383,NM_201380,NM_201384,NM_201382,NM_201379,NM_201378 PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC EXON Missense_L3990F,Missense_L4049F,Missense_L4026F,Missense_L4159F,Missense_L4022F,Missense_L4022F,Missense_L4000F,Missense_L4008F exm729106 8 144991972 [A/G] NM_201381,NM_000445,NM_201383,NM_201380,NM_201384,NM_201382,NM_201379,NM_201378 PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC EXON Missense_S3974L,Missense_S4033L,Missense_S4010L,Missense_S4143L,Missense_S4006L,Missense_S4006L,Missense_S3984L,Missense_S3992L exm729132 8 144992269 [A/G] NM_201381,NM_000445,NM_201383,NM_201380,NM_201384,NM_201382,NM_201379,NM_201378 PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC EXON Missense_T3875M,Missense_T3934M,Missense_T3911M,Missense_T4044M,Missense_T3907M,Missense_T3907M,Missense_T3885M,Missense_T3893M exm729134 8 144992347 [T/C] NM_201381,NM_000445,NM_201383,NM_201380,NM_201384,NM_201382,NM_201379,NM_201378 PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC EXON Missense_R3849H,Missense_R3908H,Missense_R3885H,Missense_R4018H,Missense_R3881H,Missense_R3881H,Missense_R3859H,Missense_R3867H exm729139 8 144992368 [A/G] NM_201381,NM_000445,NM_201383,NM_201380,NM_201384,NM_201382,NM_201379,NM_201378 PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC EXON Missense_L3842P,Missense_L3901P,Missense_L3878P,Missense_L4011P,Missense_L3874P,Missense_L3874P,Missense_L3852P,Missense_L3860P exm729152 8 144992450 [T/C] NM_201381,NM_000445,NM_201383,NM_201380,NM_201384,NM_201382,NM_201379,NM_201378 PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC EXON Missense_V3815M,Missense_V3874M,Missense_V3851M,Missense_V3984M,Missense_V3847M,Missense_V3847M,Missense_V3825M,Missense_V3833M exm729153 8 144992465 [T/C] NM_201381,NM_000445,NM_201383,NM_201380,NM_201384,NM_201382,NM_201379,NM_201378 PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC EXON Missense_E3810K,Missense_E3869K,Missense_E3846K,Missense_E3979K,Missense_E3842K,Missense_E3842K,Missense_E3820K,Missense_E3828K exm729156 8 144992546 [G/C] NM_201381,NM_000445,NM_201383,NM_201380,NM_201384,NM_201382,NM_201379,NM_201378 PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC EXON Missense_G3783R,Missense_G3842R,Missense_G3819R,Missense_G3952R,Missense_G3815R,Missense_G3815R,Missense_G3793R,Missense_G3801R exm729157 8 144992552 [A/G] NM_201381,NM_000445,NM_201383,NM_201380,NM_201384,NM_201382,NM_201379,NM_201378 PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC EXON Missense_R3781C,Missense_R3840C,Missense_R3817C,Missense_R3950C,Missense_R3813C,Missense_R3813C,Missense_R3791C,Missense_R3799C exm729175 8 144992782 [A/G] NM_201381,NM_000445,NM_201383,NM_201380,NM_201384,NM_201382,NM_201379,NM_201378 PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC EXON Missense_P3704L,Missense_P3763L,Missense_P3740L,Missense_P3873L,Missense_P3736L,Missense_P3736L,Missense_P3714L,Missense_P3722L exm729177 8 144992837 [T/C] NM_201381,NM_000445,NM_201383,NM_201380,NM_201384,NM_201382,NM_201379,NM_201378 PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC EXON Missense_E3686K,Missense_E3745K,Missense_E3722K,Missense_E3855K,Missense_E3718K,Missense_E3718K,Missense_E3696K,Missense_E3704K exm729183 8 144992915 [T/C] NM_201381,NM_000445,NM_201383,NM_201380,NM_201384,NM_201382,NM_201379,NM_201378 PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC EXON Missense_V3660M,Missense_V3719M,Missense_V3696M,Missense_V3829M,Missense_V3692M,Missense_V3692M,Missense_V3670M,Missense_V3678M exm729187 8 144992953 [A/G] NM_201381,NM_000445,NM_201383,NM_201380,NM_201384,NM_201382,NM_201379,NM_201378 PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC EXON Missense_A3647V,Missense_A3706V,Missense_A3683V,Missense_A3816V,Missense_A3679V,Missense_A3679V,Missense_A3657V,Missense_A3665V exm729189 8 144992962 [A/G] NM_201381,NM_000445,NM_201383,NM_201380,NM_201384,NM_201382,NM_201379,NM_201378 PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC EXON Missense_A3644V,Missense_A3703V,Missense_A3680V,Missense_A3813V,Missense_A3676V,Missense_A3676V,Missense_A3654V,Missense_A3662V exm729197 8 144993053 [A/G] NM_201381,NM_000445,NM_201383,NM_201380,NM_201384,NM_201382,NM_201379,NM_201378 PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC EXON Missense_R3614C,Missense_R3673C,Missense_R3650C,Missense_R3783C,Missense_R3646C,Missense_R3646C,Missense_R3624C,Missense_R3632C exm2165693 8 144993068 [T/C] NM_201381,NM_000445,NM_201383,NM_201380,NM_201384,NM_201382,NM_201379,NM_201378 PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC EXON Missense_D3609N,Missense_D3668N,Missense_D3645N,Missense_D3778N,Missense_D3641N,Missense_D3641N,Missense_D3619N,Missense_D3627N exm2165695 8 144993158 [T/C] NM_201381,NM_000445,NM_201383,NM_201380,NM_201384,NM_201382,NM_201379,NM_201378 PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC EXON Missense_G3579S,Missense_G3638S,Missense_G3615S,Missense_G3748S,Missense_G3611S,Missense_G3611S,Missense_G3589S,Missense_G3597S exm729212 8 144993245 [T/C] NM_201381,NM_000445,NM_201383,NM_201380,NM_201384,NM_201382,NM_201379,NM_201378 PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC EXON Missense_G3550S,Missense_G3609S,Missense_G3586S,Missense_G3719S,Missense_G3582S,Missense_G3582S,Missense_G3560S,Missense_G3568S exm729228 8 144993398 [T/C] NM_201381,NM_000445,NM_201383,NM_201380,NM_201384,NM_201382,NM_201379,NM_201378 PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC EXON Missense_V3499M,Missense_V3558M,Missense_V3535M,Missense_V3668M,Missense_V3531M,Missense_V3531M,Missense_V3509M,Missense_V3517M exm729229 8 144993403 [T/C] NM_201381,NM_000445,NM_201383,NM_201380,NM_201384,NM_201382,NM_201379,NM_201378 PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC EXON Missense_R3497Q,Missense_R3556Q,Missense_R3533Q,Missense_R3666Q,Missense_R3529Q,Missense_R3529Q,Missense_R3507Q,Missense_R3515Q exm729238 8 144993490 [T/C] NM_201381,NM_000445,NM_201383,NM_201380,NM_201384,NM_201382,NM_201379,NM_201378 PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC EXON Missense_R3468H,Missense_R3527H,Missense_R3504H,Missense_R3637H,Missense_R3500H,Missense_R3500H,Missense_R3478H,Missense_R3486H exm729239 8 144993491 [A/G] NM_201381,NM_000445,NM_201383,NM_201380,NM_201384,NM_201382,NM_201379,NM_201378 PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC EXON Missense_R3468C,Missense_R3527C,Missense_R3504C,Missense_R3637C,Missense_R3500C,Missense_R3500C,Missense_R3478C,Missense_R3486C exm729242 8 144993527 [T/C] NM_201381,NM_000445,NM_201383,NM_201380,NM_201384,NM_201382,NM_201379,NM_201378 PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC EXON Missense_A3456T,Missense_A3515T,Missense_A3492T,Missense_A3625T,Missense_A3488T,Missense_A3488T,Missense_A3466T,Missense_A3474T exm729243 8 144993530 [T/C] NM_201381,NM_000445,NM_201383,NM_201380,NM_201384,NM_201382,NM_201379,NM_201378 PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC EXON Missense_V3455M,Missense_V3514M,Missense_V3491M,Missense_V3624M,Missense_V3487M,Missense_V3487M,Missense_V3465M,Missense_V3473M exm729271 8 144993793 [A/G] NM_201381,NM_000445,NM_201383,NM_201380,NM_201384,NM_201382,NM_201379,NM_201378 PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC EXON Missense_V3367A,Missense_V3426A,Missense_V3403A,Missense_V3536A,Missense_V3399A,Missense_V3399A,Missense_V3377A,Missense_V3385A exm729275 8 144993884 [A/C] NM_201381,NM_000445,NM_201383,NM_201380,NM_201384,NM_201382,NM_201379,NM_201378 PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC EXON Missense_V3337L,Missense_V3396L,Missense_V3373L,Missense_V3506L,Missense_V3369L,Missense_V3369L,Missense_V3347L,Missense_V3355L exm729278 8 144993931 [C/G] NM_201381,NM_000445,NM_201383,NM_201380,NM_201384,NM_201382,NM_201379,NM_201378 PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC EXON Missense_G3321A,Missense_G3380A,Missense_G3357A,Missense_G3490A,Missense_G3353A,Missense_G3353A,Missense_G3331A,Missense_G3339A exm729280 8 144993943 [A/G] NM_201381,NM_000445,NM_201383,NM_201380,NM_201384,NM_201382,NM_201379,NM_201378 PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC EXON Missense_T3317M,Missense_T3376M,Missense_T3353M,Missense_T3486M,Missense_T3349M,Missense_T3349M,Missense_T3327M,Missense_T3335M exm729288 8 144993989 [T/C] NM_201381,NM_000445,NM_201383,NM_201380,NM_201384,NM_201382,NM_201379,NM_201378 PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC EXON Missense_G3302S,Missense_G3361S,Missense_G3338S,Missense_G3471S,Missense_G3334S,Missense_G3334S,Missense_G3312S,Missense_G3320S exm729291 8 144994028 [T/C] NM_201381,NM_000445,NM_201383,NM_201380,NM_201384,NM_201382,NM_201379,NM_201378 PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC EXON Missense_G3289R,Missense_G3348R,Missense_G3325R,Missense_G3458R,Missense_G3321R,Missense_G3321R,Missense_G3299R,Missense_G3307R exm729293 8 144994060 [A/G] NM_201381,NM_000445,NM_201383,NM_201380,NM_201384,NM_201382,NM_201379,NM_201378 PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC EXON Missense_A3278V,Missense_A3337V,Missense_A3314V,Missense_A3447V,Missense_A3310V,Missense_A3310V,Missense_A3288V,Missense_A3296V exm729294 8 144994063 [T/C] NM_201381,NM_000445,NM_201383,NM_201380,NM_201384,NM_201382,NM_201379,NM_201378 PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC EXON Missense_R3277H,Missense_R3336H,Missense_R3313H,Missense_R3446H,Missense_R3309H,Missense_R3309H,Missense_R3287H,Missense_R3295H exm729295 8 144994064 [A/G] NM_201381,NM_000445,NM_201383,NM_201380,NM_201384,NM_201382,NM_201379,NM_201378 PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC EXON Missense_R3277C,Missense_R3336C,Missense_R3313C,Missense_R3446C,Missense_R3309C,Missense_R3309C,Missense_R3287C,Missense_R3295C exm729298 8 144994094 [A/G] NM_201381,NM_000445,NM_201383,NM_201380,NM_201384,NM_201382,NM_201379,NM_201378 PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC EXON Missense_R3267W,Missense_R3326W,Missense_R3303W,Missense_R3436W,Missense_R3299W,Missense_R3299W,Missense_R3277W,Missense_R3285W exm729301 8 144994148 [T/C] NM_201381,NM_000445,NM_201383,NM_201380,NM_201384,NM_201382,NM_201379,NM_201378 PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC EXON Missense_V3249M,Missense_V3308M,Missense_V3285M,Missense_V3418M,Missense_V3281M,Missense_V3281M,Missense_V3259M,Missense_V3267M exm729303 8 144994154 [C/G] NM_201381,NM_000445,NM_201383,NM_201380,NM_201384,NM_201382,NM_201379,NM_201378 PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC EXON Missense_V3247L,Missense_V3306L,Missense_V3283L,Missense_V3416L,Missense_V3279L,Missense_V3279L,Missense_V3257L,Missense_V3265L exm2258727 8 144994161 [T/C] NM_201381,NM_000445,NM_201383,NM_201380,NM_201384,NM_201382,NM_201379,NM_201378 PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC EXON Synonymous_T3244T,Synonymous_T3303T,Synonymous_T3280T,Synonymous_T3413T,Synonymous_T3276T,Synonymous_T3276T,Synonymous_T3254T,Synonymous_T3262T exm729308 8 144994189 [T/C] NM_201381,NM_000445,NM_201383,NM_201380,NM_201384,NM_201382,NM_201379,NM_201378 PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC EXON Missense_R3235Q,Missense_R3294Q,Missense_R3271Q,Missense_R3404Q,Missense_R3267Q,Missense_R3267Q,Missense_R3245Q,Missense_R3253Q exm729309 8 144994198 [A/G] NM_201381,NM_000445,NM_201383,NM_201380,NM_201384,NM_201382,NM_201379,NM_201378 PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC EXON Missense_A3232V,Missense_A3291V,Missense_A3268V,Missense_A3401V,Missense_A3264V,Missense_A3264V,Missense_A3242V,Missense_A3250V exm729314 8 144994240 [A/G] NM_201381,NM_000445,NM_201383,NM_201380,NM_201384,NM_201382,NM_201379,NM_201378 PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC EXON Missense_T3218M,Missense_T3277M,Missense_T3254M,Missense_T3387M,Missense_T3250M,Missense_T3250M,Missense_T3228M,Missense_T3236M exm729316 8 144994271 [T/C] NM_201381,NM_000445,NM_201383,NM_201380,NM_201384,NM_201382,NM_201379,NM_201378 PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC EXON Missense_E3208K,Missense_E3267K,Missense_E3244K,Missense_E3377K,Missense_E3240K,Missense_E3240K,Missense_E3218K,Missense_E3226K exm729319 8 144994331 [A/G] NM_201381,NM_000445,NM_201383,NM_201380,NM_201384,NM_201382,NM_201379,NM_201378 PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC EXON Missense_R3188W,Missense_R3247W,Missense_R3224W,Missense_R3357W,Missense_R3220W,Missense_R3220W,Missense_R3198W,Missense_R3206W exm729328 8 144994412 [A/C] NM_201381,NM_000445,NM_201383,NM_201380,NM_201384,NM_201382,NM_201379,NM_201378 PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC EXON Missense_G3161C,Missense_G3220C,Missense_G3197C,Missense_G3330C,Missense_G3193C,Missense_G3193C,Missense_G3171C,Missense_G3179C exm729339 8 144994583 [T/C] NM_201381,NM_000445,NM_201383,NM_201380,NM_201384,NM_201382,NM_201379,NM_201378 PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC EXON Missense_A3104T,Missense_A3163T,Missense_A3140T,Missense_A3273T,Missense_A3136T,Missense_A3136T,Missense_A3114T,Missense_A3122T exm729353 8 144994699 [A/G] NM_201381,NM_000445,NM_201383,NM_201380,NM_201384,NM_201382,NM_201379,NM_201378 PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC EXON Missense_S3065L,Missense_S3124L,Missense_S3101L,Missense_S3234L,Missense_S3097L,Missense_S3097L,Missense_S3075L,Missense_S3083L exm729358 8 144994750 [T/C] NM_201381,NM_000445,NM_201383,NM_201380,NM_201384,NM_201382,NM_201379,NM_201378 PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC EXON Missense_E3048G,Missense_E3107G,Missense_E3084G,Missense_E3217G,Missense_E3080G,Missense_E3080G,Missense_E3058G,Missense_E3066G exm729371 8 144994888 [A/G] NM_201381,NM_000445,NM_201383,NM_201380,NM_201384,NM_201382,NM_201379,NM_201378 PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC EXON Missense_A3002V,Missense_A3061V,Missense_A3038V,Missense_A3171V,Missense_A3034V,Missense_A3034V,Missense_A3012V,Missense_A3020V exm729376 8 144994940 [A/G] NM_201381,NM_000445,NM_201383,NM_201380,NM_201384,NM_201382,NM_201379,NM_201378 PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC EXON Missense_R2985W,Missense_R3044W,Missense_R3021W,Missense_R3154W,Missense_R3017W,Missense_R3017W,Missense_R2995W,Missense_R3003W exm729377 8 144994955 [T/C] NM_201381,NM_000445,NM_201383,NM_201380,NM_201384,NM_201382,NM_201379,NM_201378 PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC EXON Missense_E2980K,Missense_E3039K,Missense_E3016K,Missense_E3149K,Missense_E3012K,Missense_E3012K,Missense_E2990K,Missense_E2998K exm729378 8 144994966 [T/C] NM_201381,NM_000445,NM_201383,NM_201380,NM_201384,NM_201382,NM_201379,NM_201378 PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC EXON Missense_R2976Q,Missense_R3035Q,Missense_R3012Q,Missense_R3145Q,Missense_R3008Q,Missense_R3008Q,Missense_R2986Q,Missense_R2994Q exm729382 8 144995008 [T/C] NM_201381,NM_000445,NM_201383,NM_201380,NM_201384,NM_201382,NM_201379,NM_201378 PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC EXON Missense_R2962H,Missense_R3021H,Missense_R2998H,Missense_R3131H,Missense_R2994H,Missense_R2994H,Missense_R2972H,Missense_R2980H exm729392 8 144995169 [G/C] NM_201381,NM_000445,NM_201383,NM_201380,NM_201384,NM_201382,NM_201379,NM_201378 PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC EXON Missense_D2908E,Missense_D2967E,Missense_D2944E,Missense_D3077E,Missense_D2940E,Missense_D2940E,Missense_D2918E,Missense_D2926E exm729397 8 144995227 [A/G] NM_201381,NM_000445,NM_201383,NM_201380,NM_201384,NM_201382,NM_201379,NM_201378 PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC EXON Missense_T2889M,Missense_T2948M,Missense_T2925M,Missense_T3058M,Missense_T2921M,Missense_T2921M,Missense_T2899M,Missense_T2907M exm729404 8 144995329 [T/C] NM_201381,NM_000445,NM_201383,NM_201380,NM_201384,NM_201382,NM_201379,NM_201378 PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC EXON Missense_K2855R,Missense_K2914R,Missense_K2891R,Missense_K3024R,Missense_K2887R,Missense_K2887R,Missense_K2865R,Missense_K2873R exm729452 8 144995759 [A/G] NM_201381,NM_000445,NM_201383,NM_201380,NM_201384,NM_201382,NM_201379,NM_201378 PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC EXON Missense_R2712W,Missense_R2771W,Missense_R2748W,Missense_R2881W,Missense_R2744W,Missense_R2744W,Missense_R2722W,Missense_R2730W exm729455 8 144995807 [T/C] NM_201381,NM_000445,NM_201383,NM_201380,NM_201384,NM_201382,NM_201379,NM_201378 PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC EXON Missense_I2696V,Missense_I2755V,Missense_I2732V,Missense_I2865V,Missense_I2728V,Missense_I2728V,Missense_I2706V,Missense_I2714V exm729461 8 144995938 [T/C] NM_201381,NM_000445,NM_201383,NM_201380,NM_201384,NM_201382,NM_201379,NM_201378 PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC EXON Missense_R2652Q,Missense_R2711Q,Missense_R2688Q,Missense_R2821Q,Missense_R2684Q,Missense_R2684Q,Missense_R2662Q,Missense_R2670Q exm729462 8 144995939 [A/G] NM_201381,NM_000445,NM_201383,NM_201380,NM_201384,NM_201382,NM_201379,NM_201378 PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC EXON Missense_R2652W,Missense_R2711W,Missense_R2688W,Missense_R2821W,Missense_R2684W,Missense_R2684W,Missense_R2662W,Missense_R2670W exm729466 8 144995956 [A/G] NM_201381,NM_000445,NM_201383,NM_201380,NM_201384,NM_201382,NM_201379,NM_201378 PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC EXON Missense_T2646M,Missense_T2705M,Missense_T2682M,Missense_T2815M,Missense_T2678M,Missense_T2678M,Missense_T2656M,Missense_T2664M exm729478 8 144996038 [A/G] NM_201381,NM_000445,NM_201383,NM_201380,NM_201384,NM_201382,NM_201379,NM_201378 PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC EXON Missense_R2619W,Missense_R2678W,Missense_R2655W,Missense_R2788W,Missense_R2651W,Missense_R2651W,Missense_R2629W,Missense_R2637W exm729485 8 144996109 [C/G] NM_201381,NM_000445,NM_201383,NM_201380,NM_201384,NM_201382,NM_201379,NM_201378 PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC EXON Missense_P2595R,Missense_P2654R,Missense_P2631R,Missense_P2764R,Missense_P2627R,Missense_P2627R,Missense_P2605R,Missense_P2613R exm729502 8 144996320 [A/G] NM_201381,NM_000445,NM_201383,NM_201380,NM_201384,NM_201382,NM_201379,NM_201378 PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC EXON Missense_R2525W,Missense_R2584W,Missense_R2561W,Missense_R2694W,Missense_R2557W,Missense_R2557W,Missense_R2535W,Missense_R2543W exm729534 8 144996830 [T/C] NM_201381,NM_000445,NM_201383,NM_201380,NM_201384,NM_201382,NM_201379,NM_201378 PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC EXON Missense_A2391T,Missense_A2450T,Missense_A2427T,Missense_A2560T,Missense_A2423T,Missense_A2423T,Missense_A2401T,Missense_A2409T exm729548 8 144996916 [T/C] NM_201381,NM_000445,NM_201383,NM_201380,NM_201384,NM_201382,NM_201379,NM_201378 PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC EXON Missense_R2362Q,Missense_R2421Q,Missense_R2398Q,Missense_R2531Q,Missense_R2394Q,Missense_R2394Q,Missense_R2372Q,Missense_R2380Q exm729565 8 144997240 [A/G] NM_201381,NM_000445,NM_201383,NM_201380,NM_201384,NM_201382,NM_201379,NM_201378 PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC EXON Missense_A2254V,Missense_A2313V,Missense_A2290V,Missense_A2423V,Missense_A2286V,Missense_A2286V,Missense_A2264V,Missense_A2272V exm729567 8 144997256 [T/C] NM_201381,NM_000445,NM_201383,NM_201380,NM_201384,NM_201382,NM_201379,NM_201378 PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC EXON Missense_A2249T,Missense_A2308T,Missense_A2285T,Missense_A2418T,Missense_A2281T,Missense_A2281T,Missense_A2259T,Missense_A2267T exm729572 8 144997306 [T/C] NM_201381,NM_000445,NM_201383,NM_201380,NM_201384,NM_201382,NM_201379,NM_201378 PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC EXON Missense_R2232H,Missense_R2291H,Missense_R2268H,Missense_R2401H,Missense_R2264H,Missense_R2264H,Missense_R2242H,Missense_R2250H exm729578 8 144997340 [T/C] NM_201381,NM_000445,NM_201383,NM_201380,NM_201384,NM_201382,NM_201379,NM_201378 PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC EXON Missense_A2221T,Missense_A2280T,Missense_A2257T,Missense_A2390T,Missense_A2253T,Missense_A2253T,Missense_A2231T,Missense_A2239T exm729596 8 144997561 [T/C] NM_201381,NM_000445,NM_201383,NM_201380,NM_201384,NM_201382,NM_201379,NM_201378 PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC EXON Missense_R2147Q,Missense_R2206Q,Missense_R2183Q,Missense_R2316Q,Missense_R2179Q,Missense_R2179Q,Missense_R2157Q,Missense_R2165Q exm729612 8 144997657 [A/G] NM_201381,NM_000445,NM_201383,NM_201380,NM_201384,NM_201382,NM_201379,NM_201378 PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC EXON Missense_A2115V,Missense_A2174V,Missense_A2151V,Missense_A2284V,Missense_A2147V,Missense_A2147V,Missense_A2125V,Missense_A2133V exm729619 8 144997714 [T/C] NM_201381,NM_000445,NM_201383,NM_201380,NM_201384,NM_201382,NM_201379,NM_201378 PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC EXON Missense_R2096Q,Missense_R2155Q,Missense_R2132Q,Missense_R2265Q,Missense_R2128Q,Missense_R2128Q,Missense_R2106Q,Missense_R2114Q exm729637 8 144997927 [A/G] NM_201381,NM_000445,NM_201383,NM_201380,NM_201384,NM_201382,NM_201379,NM_201378 PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC EXON Missense_A2025V,Missense_A2084V,Missense_A2061V,Missense_A2194V,Missense_A2057V,Missense_A2057V,Missense_A2035V,Missense_A2043V exm729648 8 144998052 [T/A] NM_201381,NM_000445,NM_201383,NM_201380,NM_201384,NM_201382,NM_201379,NM_201378 PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC EXON Missense_K1983N,Missense_K2042N,Missense_K2019N,Missense_K2152N,Missense_K2015N,Missense_K2015N,Missense_K1993N,Missense_K2001N exm729663 8 144998234 [T/C] NM_201381,NM_000445,NM_201383,NM_201380,NM_201384,NM_201382,NM_201379,NM_201378 PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC EXON Missense_A1923T,Missense_A1982T,Missense_A1959T,Missense_A2092T,Missense_A1955T,Missense_A1955T,Missense_A1933T,Missense_A1941T exm729671 8 144998336 [A/G] NM_201381,NM_000445,NM_201383,NM_201380,NM_201384,NM_201382,NM_201379,NM_201378 PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC EXON Missense_R1889W,Missense_R1948W,Missense_R1925W,Missense_R2058W,Missense_R1921W,Missense_R1921W,Missense_R1899W,Missense_R1907W exm729676 8 144998401 [T/C] NM_201381,NM_000445,NM_201383,NM_201380,NM_201384,NM_201382,NM_201379,NM_201378 PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC EXON Missense_R1867H,Missense_R1926H,Missense_R1903H,Missense_R2036H,Missense_R1899H,Missense_R1899H,Missense_R1877H,Missense_R1885H exm729678 8 144998444 [T/C] NM_201381,NM_000445,NM_201383,NM_201380,NM_201384,NM_201382,NM_201379,NM_201378 PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC EXON Missense_A1853T,Missense_A1912T,Missense_A1889T,Missense_A2022T,Missense_A1885T,Missense_A1885T,Missense_A1863T,Missense_A1871T exm729685 8 144998495 [A/G] NM_201381,NM_000445,NM_201383,NM_201380,NM_201384,NM_201382,NM_201379,NM_201378 PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC EXON Missense_R1836W,Missense_R1895W,Missense_R1872W,Missense_R2005W,Missense_R1868W,Missense_R1868W,Missense_R1846W,Missense_R1854W exm729687 8 144998515 [A/G] NM_201381,NM_000445,NM_201383,NM_201380,NM_201384,NM_201382,NM_201379,NM_201378 PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC EXON Missense_A1829V,Missense_A1888V,Missense_A1865V,Missense_A1998V,Missense_A1861V,Missense_A1861V,Missense_A1839V,Missense_A1847V exm729691 8 144998576 [T/C] NM_201381,NM_000445,NM_201383,NM_201380,NM_201384,NM_201382,NM_201379,NM_201378 PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC EXON Missense_A1809T,Missense_A1868T,Missense_A1845T,Missense_A1978T,Missense_A1841T,Missense_A1841T,Missense_A1819T,Missense_A1827T exm729718 8 144999005 [A/G] NM_201381,NM_000445,NM_201383,NM_201380,NM_201384,NM_201382,NM_201379,NM_201378 PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC EXON Missense_R1666W,Missense_R1725W,Missense_R1702W,Missense_R1835W,Missense_R1698W,Missense_R1698W,Missense_R1676W,Missense_R1684W exm729734 8 144999224 [T/C] NM_201381,NM_000445,NM_201383,NM_201380,NM_201384,NM_201382,NM_201379,NM_201378 PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC EXON Missense_E1593K,Missense_E1652K,Missense_E1629K,Missense_E1762K,Missense_E1625K,Missense_E1625K,Missense_E1603K,Missense_E1611K exm729761 8 144999541 [A/G] NM_201381,NM_000445,NM_201383,NM_201380,NM_201384,NM_201382,NM_201379,NM_201378 PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC EXON Missense_S1487L,Missense_S1546L,Missense_S1523L,Missense_S1656L,Missense_S1519L,Missense_S1519L,Missense_S1497L,Missense_S1505L exm729790 8 144999874 [A/G] NM_201381,NM_000445,NM_201383,NM_201380,NM_201384,NM_201382,NM_201379,NM_201378 PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC EXON Missense_A1376V,Missense_A1435V,Missense_A1412V,Missense_A1545V,Missense_A1408V,Missense_A1408V,Missense_A1386V,Missense_A1394V exm2258728 8 145000982 [A/G] NM_201381,NM_000445,NM_201383,NM_201380,NM_201384,NM_201382,NM_201379,NM_201378 PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC EXON Synonymous_S1306S,Synonymous_S1365S,Synonymous_S1342S,Synonymous_S1475S,Synonymous_S1338S,Synonymous_S1338S,Synonymous_S1316S,Synonymous_S1324S exm729805 8 145001031 [T/C] NM_201381,NM_000445,NM_201383,NM_201380,NM_201384,NM_201382,NM_201379,NM_201378 PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC EXON Missense_H1290R,Missense_H1349R,Missense_H1326R,Missense_H1459R,Missense_H1322R,Missense_H1322R,Missense_H1300R,Missense_H1308R exm729806 8 145001032 [A/G] NM_201381,NM_000445,NM_201383,NM_201380,NM_201384,NM_201382,NM_201379,NM_201378 PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC EXON Missense_H1290Y,Missense_H1349Y,Missense_H1326Y,Missense_H1459Y,Missense_H1322Y,Missense_H1322Y,Missense_H1300Y,Missense_H1308Y exm729814 8 145001221 [T/C] NM_201381,NM_000445,NM_201383,NM_201380,NM_201384,NM_201382,NM_201379,NM_201378 PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC EXON Missense_K1258R,Missense_K1317R,Missense_K1294R,Missense_K1427R,Missense_K1290R,Missense_K1290R,Missense_K1268R,Missense_K1276R exm729825 8 145001482 [G/C] NM_201381,NM_000445,NM_201383,NM_201380,NM_201384,NM_201382,NM_201379,NM_201378 PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC EXON Missense_R1228G,Missense_R1287G,Missense_R1264G,Missense_R1397G,Missense_R1260G,Missense_R1260G,Missense_R1238G,Missense_R1246G exm729851 8 145001900 [A/G] NM_201381,NM_000445,NM_201383,NM_201380,NM_201384,NM_201382,NM_201379,NM_201378 PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC EXON Missense_T1113M,Missense_T1172M,Missense_T1149M,Missense_T1282M,Missense_T1145M,Missense_T1145M,Missense_T1123M,Missense_T1131M exm729861 8 145002123 [G/C] NM_201381,NM_000445,NM_201383,NM_201380,NM_201384,NM_201382,NM_201379,NM_201378 PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC EXON Missense_G1068R,Missense_G1127R,Missense_G1104R,Missense_G1237R,Missense_G1100R,Missense_G1100R,Missense_G1078R,Missense_G1086R exm729875 8 145003389 [T/C] NM_201381,NM_000445,NM_201383,NM_201380,NM_201384,NM_201382,NM_201379,NM_201378 PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC EXON Missense_E1016K,Missense_E1075K,Missense_E1052K,Missense_E1185K,Missense_E1048K,Missense_E1048K,Missense_E1026K,Missense_E1034K exm729886 8 145003653 [T/C] NM_201381,NM_000445,NM_201383,NM_201380,NM_201384,NM_201382,NM_201379,NM_201378 PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC EXON Missense_V972M,Missense_V1031M,Missense_V1008M,Missense_V1141M,Missense_V1004M,Missense_V1004M,Missense_V982M,Missense_V990M exm729887 8 145003667 [T/C] NM_201381,NM_000445,NM_201383,NM_201380,NM_201384,NM_201382,NM_201379,NM_201378 PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC EXON Missense_C967Y,Missense_C1026Y,Missense_C1003Y,Missense_C1136Y,Missense_C999Y,Missense_C999Y,Missense_C977Y,Missense_C985Y exm729894 8 145003862 [T/C] NM_201381,NM_000445,NM_201383,NM_201380,NM_201384,NM_201382,NM_201379,NM_201378 PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC EXON Missense_G927S,Missense_G986S,Missense_G963S,Missense_G1096S,Missense_G959S,Missense_G959S,Missense_G937S,Missense_G945S exm2165837 8 145004104 [T/C] NM_201381,NM_000445,NM_201383,NM_201380,NM_201384,NM_201382,NM_201379,NM_201378 PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC EXON Synonymous_T881T,Synonymous_T940T,Synonymous_T917T,Synonymous_T1050T,Synonymous_T913T,Synonymous_T913T,Synonymous_T891T,Synonymous_T899T exm729917 8 145004201 [A/G] NM_201381,NM_000445,NM_201383,NM_201380,NM_201384,NM_201382,NM_201379,NM_201378 PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC EXON Missense_T849M,Missense_T908M,Missense_T885M,Missense_T1018M,Missense_T881M,Missense_T881M,Missense_T859M,Missense_T867M exm729926 8 145004376 [T/C] NM_201381,NM_000445,NM_201383,NM_201380,NM_201384,NM_201382,NM_201379,NM_201378 PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC EXON Missense_A818T,Missense_A877T,Missense_A854T,Missense_A987T,Missense_A850T,Missense_A850T,Missense_A828T,Missense_A836T exm729945 8 145005743 [T/C] NM_201381,NM_000445,NM_201383,NM_201380,NM_201384,NM_201382,NM_201379,NM_201378 PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC EXON Missense_A723T,Missense_A782T,Missense_A759T,Missense_A892T,Missense_A755T,Missense_A755T,Missense_A733T,Missense_A741T exm729946 8 145005769 [T/C] NM_201381,NM_000445,NM_201383,NM_201380,NM_201384,NM_201382,NM_201379,NM_201378 PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC EXON Missense_R714H,Missense_R773H,Missense_R750H,Missense_R883H,Missense_R746H,Missense_R746H,Missense_R724H,Missense_R732H exm729962 8 145006576 [T/A] NM_201381,NM_000445,NM_201383,NM_201380,NM_201384,NM_201382,NM_201379,NM_201378 PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC EXON Missense_S625C,Missense_S684C,Missense_S661C,Missense_S794C,Missense_S657C,Missense_S657C,Missense_S635C,Missense_S643C exm729965 8 145006590 [A/G] NM_201381,NM_000445,NM_201383,NM_201380,NM_201384,NM_201382,NM_201379,NM_201378 PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC EXON Missense_T620I,Missense_T679I,Missense_T656I,Missense_T789I,Missense_T652I,Missense_T652I,Missense_T630I,Missense_T638I exm729970 8 145006674 [G/C] NM_201381,NM_000445,NM_201383,NM_201380,NM_201384,NM_201382,NM_201379,NM_201378 PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC EXON Missense_A592G,Missense_A651G,Missense_A628G,Missense_A761G,Missense_A624G,Missense_A624G,Missense_A602G,Missense_A610G exm729985 8 145006971 [T/C] NM_201381,NM_000445,NM_201383,NM_201380,NM_201384,NM_201382,NM_201379,NM_201378 PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC EXON Missense_R544Q,Missense_R603Q,Missense_R580Q,Missense_R713Q,Missense_R576Q,Missense_R576Q,Missense_R554Q,Missense_R562Q exm729986 8 145006992 [T/C] NM_201381,NM_000445,NM_201383,NM_201380,NM_201384,NM_201382,NM_201379,NM_201378 PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC EXON Missense_R537Q,Missense_R596Q,Missense_R573Q,Missense_R706Q,Missense_R569Q,Missense_R569Q,Missense_R547Q,Missense_R555Q exm729988 8 145007069 [A/C] NM_201381,NM_000445,NM_201383,NM_201380,NM_201384,NM_201382,NM_201379,NM_201378 PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC EXON Missense_E511D,Missense_E570D,Missense_E547D,Missense_E680D,Missense_E543D,Missense_E543D,Missense_E521D,Missense_E529D exm729995 8 145007187 [A/G] NM_201381,NM_000445,NM_201383,NM_201380,NM_201384,NM_201382,NM_201379,NM_201378 PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC EXON Missense_A472V,Missense_A531V,Missense_A508V,Missense_A641V,Missense_A504V,Missense_A504V,Missense_A482V,Missense_A490V exm730000 8 145007244 [A/C] NM_201381,NM_000445,NM_201383,NM_201380,NM_201384,NM_201382,NM_201379,NM_201378 PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC EXON Missense_R453L,Missense_R512L,Missense_R489L,Missense_R622L,Missense_R485L,Missense_R485L,Missense_R463L,Missense_R471L exm730004 8 145007396 [A/G] NM_201381,NM_000445,NM_201383,NM_201380,NM_201384,NM_201382,NM_201379,NM_201378 PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC EXON Missense_R431W,Missense_R490W,Missense_R467W,Missense_R600W,Missense_R463W,Missense_R463W,Missense_R441W,Missense_R449W exm2165871 8 145007500 [A/G] NM_201381,NM_000445,NM_201383,NM_201380,NM_201384,NM_201382,NM_201379,NM_201378 PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC EXON Missense_A396V,Missense_A455V,Missense_A432V,Missense_A565V,Missense_A428V,Missense_A428V,Missense_A406V,Missense_A414V exm730013 8 145008167 [A/G] NM_201381,NM_000445,NM_201383,NM_201380,NM_201384,NM_201382,NM_201379,NM_201378 PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC EXON Missense_S389L,Missense_S448L,Missense_S425L,Missense_S558L,Missense_S421L,Missense_S421L,Missense_S399L,Missense_S407L exm730022 8 145008532 [T/C] NM_201381,NM_000445,NM_201383,NM_201380,NM_201384,NM_201382,NM_201379,NM_201378 PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC EXON Missense_V343M,Missense_V402M,Missense_V379M,Missense_V512M,Missense_V375M,Missense_V375M,Missense_V353M,Missense_V361M exm730037 8 145008895 [C/G] NM_201381,NM_000445,NM_201383,NM_201380,NM_201384,NM_201382,NM_201379,NM_201378 PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC EXON Missense_L285V,Missense_L344V,Missense_L321V,Missense_L454V,Missense_L317V,Missense_L317V,Missense_L295V,Missense_L303V exm730061 8 145009402 [A/G] NM_201381,NM_000445,NM_201383,NM_201380,NM_201384,NM_201382,NM_201379,NM_201378 PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC EXON Missense_R196W,Missense_R255W,Missense_R232W,Missense_R365W,Missense_R228W,Missense_R228W,Missense_R206W,Missense_R214W exm2258729 8 145011204 [A/G] NM_201381,NM_000445,NM_201383,NM_201380,NM_201384,NM_201382,NM_201379,NM_201378 PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC EXON Synonymous_A94A,Synonymous_A153A,Synonymous_A130A,Synonymous_A263A,Synonymous_A126A,Synonymous_A126A,Synonymous_A104A,Synonymous_A112A exm730091 8 145012801 [T/C] NM_201381,NM_000445,NM_201383,NM_201380,NM_201384,NM_201382,NM_201379,NM_201378 PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC EXON Missense_K26E,Missense_K85E,Missense_K62E,Missense_K195E,Missense_K58E,Missense_K58E,Missense_K36E,Missense_K44E exm730097 8 145013572 [T/C] NM_201381,NM_000445,NM_201383,NM_201380,NM_201384,NM_201382,NM_201379,NM_201378 PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC EXON Silent,Silent,Silent,Silent,Missense_S20G,Silent,Silent,Silent exm730098 8 145013583 [T/C] NM_201381,NM_000445,NM_201383,NM_201380,NM_201384,NM_201382,NM_201379,NM_201378 PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC EXON Silent,Silent,Silent,Silent,Missense_R16Q,Silent,Silent,Silent exm730121 8 145018817 [A/G] NM_201381,NM_000445,NM_201380,NM_201379,NM_201378 PLEC,PLEC,PLEC,PLEC,PLEC EXON Synonymous_P5P,Silent,Silent,Silent,Silent exm730133 8 145024459 [A/G] NM_000445,NM_201380,NM_201379,NM_201378 PLEC,PLEC,PLEC,PLEC EXON Silent,Missense_V139A,Silent,Silent exm730144 8 145024628 [A/G] NM_000445,NM_201380,NM_201379,NM_201378 PLEC,PLEC,PLEC,PLEC EXON Silent,Missense_R83C,Silent,Silent exm730146 8 145024726 [T/C] NM_000445,NM_201380,NM_201379,NM_201378 PLEC,PLEC,PLEC,PLEC EXON Silent,Missense_R50H,Silent,Silent exm730149 8 145024783 [T/C] NM_000445,NM_201380,NM_201379,NM_201378 PLEC,PLEC,PLEC,PLEC EXON Silent,Missense_R31Q,Silent,Silent exm-rs11136341 8 145043543 [A/G] NM_000445,NM_201378 PLEC,PLEC Silent,Silent exm730161 8 145049405 [T/C] NM_000445 PLEC EXON Missense_G45S exm730167 8 145049512 [T/C] NM_000445 PLEC EXON Missense_R9Q exm730169 8 145051711 [A/C] NM_032789 PARP10 EXON Missense_V1007L exm730181 8 145051905 [A/G] NM_032789 PARP10 EXON Missense_A942V exm730182 8 145051926 [C/G] NM_032789 PARP10 EXON Missense_P935R exm730188 8 145052167 [A/G] NM_032789 PARP10 EXON Missense_P880L exm730193 8 145057110 [T/C] NM_032789 PARP10 EXON Missense_R849H exm730199 8 145057206 [T/C] NM_032789 PARP10 EXON Nonsense_W817X exm730202 8 145057227 [T/C] NM_032789 PARP10 EXON Missense_G810E exm2165950 8 145057230 [A/G] NM_032789 PARP10 EXON Missense_A809V exm730211 8 145057500 [A/G] NM_032789 PARP10 EXON Missense_R753C exm730215 8 145057530 [T/G] NM_032789 PARP10 EXON Missense_R743S exm730221 8 145057683 [A/G] NM_032789 PARP10 EXON Missense_P692S exm730238 8 145057916 [T/G] NM_032789 PARP10 EXON Missense_P614H exm2258730 8 145058399 [T/C] NM_032789 PARP10 EXON Synonymous_T553T exm730250 8 145058399 [T/C] NM_032789 PARP10 EXON Synonymous_T553T exm730257 8 145058539 [T/C] NM_032789 PARP10 EXON Missense_S507G exm730259 8 145058554 [A/G] NM_032789 PARP10 EXON Missense_R502W exm730262 8 145058713 [A/C] NM_032789 PARP10 EXON Missense_R486L exm730270 8 145058810 [T/C] NM_032789 PARP10 EXON Missense_A454T exm730275 8 145058986 [A/G] NM_032789 PARP10 EXON Missense_L395P exm730276 8 145059026 [T/C] NM_032789 PARP10 EXON Missense_V382M exm730286 8 145059188 [G/C] NM_032789 PARP10 EXON Missense_P328A exm730287 8 145059215 [A/T] NM_032789 PARP10 EXON Missense_I319F exm730299 8 145059329 [T/C] NM_032789 PARP10 EXON Missense_G281R exm730306 8 145059425 [T/C] NM_032789 PARP10 EXON Missense_I249V exm730309 8 145059467 [A/G] NM_032789 PARP10 EXON Missense_R235W exm730311 8 145059615 [A/G] NM_032789 PARP10 EXON Missense_P213L exm2165975 8 145059664 [A/G] NM_032789 PARP10 EXON Missense_R197C exm730320 8 145059781 [T/C] NM_032789 PARP10 EXON Missense_G158S exm730335 8 145060303 [T/C] NM_032789 PARP10 EXON Missense_R34H exm730347 8 145065435 [T/C] NM_000837,NM_001009184 GRINA,GRINA EXON Missense_P15L,Missense_P15L exm730367 8 145065747 [T/A] NM_000837,NM_001009184 GRINA,GRINA EXON Missense_V119D,Missense_V119D exm2166004 8 145086736 [T/G] NM_001134374,NM_198572 SPATC1,SPATC1 EXON Missense_V18G,Missense_V18G exm730418 8 145086777 [T/C] NM_001134374,NM_198572 SPATC1,SPATC1 EXON Missense_R32W,Missense_R32W exm730424 8 145086856 [A/G] NM_001134374,NM_198572 SPATC1,SPATC1 EXON Missense_G58D,Missense_G58D exm730425 8 145086876 [T/C] NM_001134374,NM_198572 SPATC1,SPATC1 EXON Missense_S65P,Missense_S65P exm730426 8 145086883 [A/G] NM_001134374,NM_198572 SPATC1,SPATC1 EXON Missense_R67H,Missense_R67H exm2166007 8 145094836 [C/G] NM_001134374,NM_198572 SPATC1,SPATC1 EXON Missense_V80L,Missense_V80L exm2166008 8 145094849 [A/G] NM_001134374,NM_198572 SPATC1,SPATC1 EXON Missense_R84Q,Missense_R84Q exm730430 8 145094857 [A/G] NM_001134374,NM_198572 SPATC1,SPATC1 EXON Missense_E87K,Missense_E87K exm730434 8 145094912 [A/T] NM_001134374,NM_198572 SPATC1,SPATC1 EXON Missense_Q105L,Missense_Q105L exm730437 8 145094927 [T/C] NM_001134374,NM_198572 SPATC1,SPATC1 EXON Missense_P110L,Missense_P110L exm730448 8 145095062 [A/G] NM_001134374,NM_198572 SPATC1,SPATC1 EXON Missense_S155N,Missense_S155N exm730458 8 145095286 [T/C] NM_001134374,NM_198572 SPATC1,SPATC1 EXON Missense_R230W,Missense_R230W exm730459 8 145095287 [A/G] NM_001134374,NM_198572 SPATC1,SPATC1 EXON Missense_R230Q,Missense_R230Q exm730468 8 145095556 [A/C] NM_001134374,NM_198572 SPATC1,SPATC1 EXON Missense_T285N,Missense_T285N exm730469 8 145095559 [T/C] NM_001134374,NM_198572 SPATC1,SPATC1 EXON Missense_P286L,Missense_P286L exm730470 8 145095564 [A/G] NM_001134374,NM_198572 SPATC1,SPATC1 EXON Missense_G288R,Missense_G288R exm730471 8 145095577 [T/C] NM_001134374,NM_198572 SPATC1,SPATC1 EXON Missense_T292I,Missense_T292I exm730476 8 145095639 [A/G] NM_001134374,NM_198572 SPATC1,SPATC1 EXON Missense_A313T,Missense_A313T exm730487 8 145095930 [A/C] NM_001134374,NM_198572 SPATC1,SPATC1 EXON Missense_P410T,Missense_P410T exm730491 8 145095976 [A/G] NM_001134374,NM_198572 SPATC1,SPATC1 EXON Missense_R425H,Missense_R425H exm730495 8 145096163 [T/G] NM_001134374,NM_198572 SPATC1,SPATC1 EXON Silent,Missense_V446G exm2166031 8 145101585 [A/C] NM_001134374,NM_198572 SPATC1,SPATC1 EXON Silent,Missense_Q502K exm730517 8 145101690 [C/G] NM_001134374,NM_198572 SPATC1,SPATC1 EXON Silent,Missense_E537Q exm730518 8 145101693 [T/C] NM_001134374,NM_198572 SPATC1,SPATC1 EXON Silent,Missense_R538C exm730533 8 145101810 [T/C] NM_001134374,NM_198572 SPATC1,SPATC1 EXON Silent,Missense_L577F exm730536 8 145101834 [A/G] NM_001134374,NM_198572 SPATC1,SPATC1 EXON Silent,Missense_G585S exm730543 8 145106251 [A/G] NM_017570 OPLAH EXON Synonymous_Y1281Y exm730573 8 145107915 [A/G] NM_017570 OPLAH EXON Missense_R997C exm730577 8 145107999 [A/G] NM_017570 OPLAH EXON Missense_R969C exm2258732 8 145108151 [A/G] NM_017570 OPLAH EXON Synonymous_Y944Y exm730587 8 145108191 [T/C] NM_017570 OPLAH EXON Missense_Q931R exm730592 8 145108261 [A/G] NM_017570 OPLAH EXON Missense_P908S exm730593 8 145108290 [A/G] NM_017570 OPLAH EXON Missense_T898M exm730594 8 145108296 [A/G] NM_017570 OPLAH EXON Missense_A896V exm730596 8 145109485 [T/C] NM_017570 OPLAH EXON Missense_G889R exm730600 8 145109514 [A/G] NM_017570 OPLAH EXON Missense_A879V exm730608 8 145109753 [T/C] NM_017570 OPLAH EXON Missense_G825R exm2276038 8 145110081 [A/G] NM_017570 OPLAH EXON Missense_R754C exm730636 8 145111325 [A/G] NM_017570 OPLAH EXON Missense_A649V exm730638 8 145111338 [A/G] NM_017570 OPLAH EXON Missense_R645C exm730640 8 145111350 [A/G] NM_017570 OPLAH EXON Missense_R641C exm730641 8 145111353 [T/C] NM_017570 OPLAH EXON Missense_G640S exm2258733 8 145111529 [A/G] NM_017570 OPLAH EXON Synonymous_F612F exm730650 8 145111561 [A/G] NM_017570 OPLAH EXON Missense_S602P exm730655 8 145111924 [T/C] NM_017570 OPLAH EXON Missense_V545M exm730672 8 145112398 [A/G] NM_017570 OPLAH EXON Missense_R459C exm730676 8 145112455 [T/C] NM_017570 OPLAH EXON Missense_N440D exm730681 8 145112554 [A/G] NM_017570 OPLAH EXON Missense_P407S exm730683 8 145112598 [A/G] NM_017570 OPLAH EXON Missense_T392M exm730698 8 145112971 [T/C] NM_017570 OPLAH EXON Missense_A344T exm730702 8 145113189 [G/C] NM_017570 OPLAH EXON Missense_T301S exm730704 8 145113241 [T/G] NM_017570 OPLAH EXON Missense_S284R exm730710 8 145113452 [T/C] NM_017570 OPLAH EXON Missense_A244T exm730715 8 145113497 [T/C] NM_017570 OPLAH EXON Missense_V229I exm730727 8 145113903 [C/G] NM_017570 OPLAH EXON Missense_G148A exm730742 8 145114767 [A/G] NM_017570 OPLAH EXON Nonsense_Q57X exm730745 8 145114779 [A/G] NM_017570 OPLAH EXON Missense_R53C exm730746 8 145114782 [A/G] NM_017570 OPLAH EXON Missense_R52C exm730750 8 145114844 [T/C] NM_017570 OPLAH EXON Missense_R31Q exm730752 8 145114919 [T/C] NM_017570 OPLAH EXON Missense_G6D exm730776 8 145134940 [A/G] NM_019037 EXOSC4 EXON Missense_R89Q exm730779 8 145135175 [A/G] NM_019037 EXOSC4 EXON Missense_A137T exm730781 8 145135242 [T/C] NM_019037 EXOSC4 EXON Missense_A159V exm2166092 8 145135385 [A/G] NM_019037 EXOSC4 EXON Missense_E207K exm730791 8 145135431 [A/G] NM_019037 EXOSC4 EXON Missense_R222Q exm730795 8 145135487 [A/G] NM_019037 EXOSC4 EXON Missense_I241V exm730801 8 145138094 [A/C] NM_003801 GPAA1 EXON Missense_T48P exm730810 8 145138351 [T/C] NM_003801 GPAA1 EXON Missense_T105M exm730815 8 145138621 [T/C] NM_003801 GPAA1 EXON Missense_V124A exm730825 8 145139049 [T/C] NM_003801 GPAA1 EXON Missense_S210F exm730828 8 145139121 [T/G] NM_003801 GPAA1 EXON Missense_S234I exm730833 8 145139325 [G/C] NM_003801 GPAA1 EXON Missense_E275Q exm730860 8 145140199 [A/G] NM_003801 GPAA1 EXON Missense_G423E exm730861 8 145140216 [A/G] NM_003801 GPAA1 EXON Missense_A429T exm730871 8 145140496 [T/C] NM_003801 GPAA1 EXON Missense_P491L exm730872 8 145140501 [A/G] NM_003801 GPAA1 EXON Missense_R493G exm730877 8 145140622 [T/C] NM_003801 GPAA1 EXON Missense_A533V exm730884 8 145140784 [A/G] NM_003801 GPAA1 Silent exm730885 8 145140785 [A/G] NM_003801 GPAA1 EXON Synonymous_R541R exm2166118 8 145141021 [A/G] NM_003801 GPAA1 EXON Nonsense_W620X exm730890 8 145141025 [T/G] NM_003801 GPAA1 EXON Missense_K621N exm730902 8 145150833 [T/C] NM_001916 CYC1 EXON Missense_M76T exm730905 8 145150929 [A/C] NM_001916 CYC1 EXON Missense_T108N exm730916 8 145151262 [A/G] NM_001916 CYC1 EXON Missense_N159S exm2166126 8 145151364 [T/C] NM_001916 CYC1 EXON Missense_L193S exm730925 8 145151488 [T/C] NM_001916 CYC1 EXON Missense_H205Y exm730932 8 145151545 [A/G] NM_001916 CYC1 EXON Missense_G224R exm730933 8 145151563 [A/G] NM_001916 CYC1 EXON Missense_G230S exm730950 8 145152184 [A/G] NM_001916 CYC1 EXON Missense_R308Q exm730973 8 145154091 [A/G] NM_030974,NR_038270 SHARPIN,SHARPIN EXON Nonsense_Q314X,Silent exm2246607 8 145154099 [C/G] NM_030974,NR_038270 SHARPIN,SHARPIN EXON Missense_P311R,Silent exm730975 8 145154222 [A/G] NM_030974,NR_038270 SHARPIN,SHARPIN EXON Missense_P294S,Silent exm730978 8 145154257 [G/C] NM_030974,NR_038270 SHARPIN,SHARPIN EXON Missense_S282T,Silent exm730979 8 145154282 [A/G] NM_030974,NR_038270 SHARPIN,SHARPIN EXON Missense_R274W,Silent exm2258734 8 145154319 [A/G] NM_030974,NR_038270 SHARPIN,SHARPIN EXON Synonymous_L261L,Silent exm730986 8 145154319 [A/G] NM_030974,NR_038270 SHARPIN,SHARPIN EXON Synonymous_L261L,Silent exm730991 8 145154487 [T/C] NM_030974,NR_038270 SHARPIN,SHARPIN EXON Missense_A232T,Silent exm730996 8 145154676 [T/C] NM_030974,NR_038270 SHARPIN,SHARPIN EXON Missense_V197I,Silent exm730998 8 145154697 [G/C] NM_030974,NR_038270 SHARPIN,SHARPIN EXON Missense_G190R,Silent exm731005 8 145154910 [A/G] NM_030974,NR_038270 SHARPIN,SHARPIN EXON Missense_P147S,Silent exm731012 8 145158091 [A/G] NM_030974,NR_038270 SHARPIN,SHARPIN EXON Missense_T80I,Silent exm731034 8 145160983 [A/G] NM_032272 MAF1 EXON Missense_S73G exm731051 8 145161803 [T/A] NM_032272 MAF1 EXON Missense_V229E exm731054 8 145161823 [A/G] NM_032272 MAF1 EXON Missense_G236R exm731084 8 145223240 [T/C] NM_001099281,NM_001099280,NM_032450 MROH1,MROH1,MROH1 EXON Missense_P22L,Missense_P22L,Missense_P22L exm731089 8 145223288 [T/C] NM_001099281,NM_001099280,NM_032450 MROH1,MROH1,MROH1 EXON Missense_A38V,Missense_A38V,Missense_A38V exm731096 8 145223317 [A/G] NM_001099281,NM_001099280,NM_032450 MROH1,MROH1,MROH1 EXON Missense_E48K,Missense_E48K,Missense_E48K exm731099 8 145234364 [T/C] NM_001099281,NM_001099280,NM_032450 MROH1,MROH1,MROH1 EXON Missense_H59Y,Missense_H59Y,Missense_H59Y exm731103 8 145235106 [A/C] NM_001099281,NM_001099280,NM_032450 MROH1,MROH1,MROH1 EXON Missense_A109E,Missense_A109E,Missense_A109E exm731106 8 145235115 [C/G] NM_001099281,NM_001099280,NM_032450 MROH1,MROH1,MROH1 EXON Missense_G112A,Missense_G112A,Missense_G112A exm731110 8 145235171 [T/C] NM_001099281,NM_001099280,NM_032450 MROH1,MROH1,MROH1 EXON Missense_R131C,Missense_R131C,Missense_R131C exm731121 8 145235403 [T/C] NM_001099281,NM_001099280,NM_032450 MROH1,MROH1,MROH1 EXON Missense_T180M,Missense_T180M,Missense_T180M exm731129 8 145245810 [A/G] NM_001099281,NM_001099280,NM_032450 MROH1,MROH1,MROH1 EXON Missense_H229R,Missense_H229R,Missense_H229R exm731135 8 145246717 [A/G] NM_001099281,NM_001099280,NM_032450 MROH1,MROH1,MROH1 EXON Missense_A272T,Missense_A272T,Missense_A272T exm731143 8 145247255 [A/G] NM_001099281,NM_001099280,NM_032450 MROH1,MROH1,MROH1 EXON Missense_R300H,Missense_R300H,Missense_R300H exm731147 8 145254085 [T/C] NM_001099281,NM_001099280,NM_032450 MROH1,MROH1,MROH1 EXON Missense_R337C,Missense_R337C,Missense_R337C exm2258735 8 145268009 [T/C] NM_001099281,NM_001099280,NM_032450 MROH1,MROH1,MROH1 EXON Synonymous_P418P,Synonymous_P418P,Silent exm2166237 8 145278084 [T/C] NM_032450 MROH1 EXON Missense_A430V exm731173 8 145512912 [T/C] NM_015201 BOP1 EXON Missense_S58N exm731200 8 145533221 [A/T] NM_005526 HSF1 EXON Missense_C103S exm731216 8 145535220 [T/C] NM_005526 HSF1 EXON Missense_A219V exm731224 8 145535422 [A/G] NM_005526 HSF1 EXON Missense_A254T exm731225 8 145535423 [T/C] NM_005526 HSF1 EXON Missense_A254V exm731237 8 145535785 [T/G] NM_005526 HSF1 EXON Missense_S333A exm731248 8 145535881 [A/C] NM_005526 HSF1 EXON Missense_P365T exm731274 8 145540230 [A/G] NM_012079 DGAT1 EXON Missense_A485V exm2258737 8 145541106 [A/G] NM_012079 DGAT1 EXON Synonymous_V328V exm731299 8 145541207 [T/C] NM_012079 DGAT1 EXON Synonymous_A327A exm2246614 8 145541227 [T/C] NM_012079 DGAT1 EXON Missense_E321K exm2246615 8 145541623 [A/G] NM_012079 DGAT1 EXON Missense_S270F exm731315 8 145541635 [T/C] NM_012079 DGAT1 EXON Missense_N266S exm731322 8 145541766 [T/G] NM_012079 DGAT1 EXON Missense_T248N exm731326 8 145541815 [T/C] NM_012079 DGAT1 EXON Missense_A232T exm731332 8 145541966 [A/G] NM_012079 DGAT1 EXON Missense_R212C exm731339 8 145542159 [A/G] NM_012079 DGAT1 EXON Missense_A180V exm731341 8 145542193 [T/C] NM_012079 DGAT1 EXON Missense_V169M exm731346 8 145542375 [T/C] NM_012079 DGAT1 EXON Missense_K152R exm731361 8 145545073 [T/C] NM_012079 DGAT1 Silent exm731388 8 145559724 [G/C] NM_031309 SCRT1 EXON Missense_H36Q exm731391 8 145559746 [T/C] NM_031309 SCRT1 EXON Missense_S29N exm731409 8 145579649 [T/C] NM_012162,NM_024555 FBXL6,FBXL6 EXON Missense_R484Q,Missense_R478Q exm731417 8 145579749 [T/C] NM_012162,NM_024555 FBXL6,FBXL6 EXON Missense_G451R,Missense_G445R exm731419 8 145579785 [A/G] NM_012162,NM_024555 FBXL6,FBXL6 EXON Missense_C439R,Missense_C433R exm731431 8 145579962 [T/C] NM_012162,NM_024555 FBXL6,FBXL6 EXON Missense_R408Q,Missense_R402Q exm2258738 8 145579964 [A/G] NM_012162,NM_024555 FBXL6,FBXL6 EXON Synonymous_C407C,Synonymous_C401C exm731434 8 145579973 [T/A] NM_012162,NM_024555 FBXL6,FBXL6 EXON Missense_D404E,Missense_D398E exm731439 8 145580008 [T/C] NM_012162,NM_024555 FBXL6,FBXL6 EXON Missense_G393S,Missense_G387S exm731443 8 145580028 [A/G] NM_012162,NM_024555 FBXL6,FBXL6 EXON Missense_L386P,Missense_L380P exm731466 8 145580530 [A/G] NM_012162,NM_024555 FBXL6,FBXL6 EXON Nonsense_R273X,Nonsense_R267X exm731468 8 145580535 [G/C] NM_012162,NM_024555 FBXL6,FBXL6 EXON Missense_G271A,Missense_G265A exm2166380 8 145580559 [A/G] NM_012162,NM_024555 FBXL6,FBXL6 EXON Missense_V263A,Missense_V257A exm731473 8 145580671 [G/C] NM_012162,NM_024555 FBXL6,FBXL6 EXON Missense_S250R,Missense_S244R exm731481 8 145580736 [T/C] NM_012162,NM_024555 FBXL6,FBXL6 EXON Missense_G229S,Missense_G223S exm731484 8 145580759 [A/C] NM_012162,NM_024555 FBXL6,FBXL6 EXON Missense_R221L,Missense_R215L exm2266708 8 145581557 [A/G] NM_012162,NM_024555 FBXL6,FBXL6 Silent,Silent exm731535 8 145583505 [A/C] NM_001253816,NM_001253815,NR_045600,NM_024531 SLC52A2,SLC52A2,SLC52A2,SLC52A2 EXON Missense_A118D,Missense_A118D,Silent,Missense_A118D exm2166394 8 145583511 [T/C] NM_001253816,NM_001253815,NR_045600,NM_024531 SLC52A2,SLC52A2,SLC52A2,SLC52A2 EXON Missense_V120A,Missense_V120A,Silent,Missense_V120A exm731537 8 145583522 [T/G] NM_001253816,NM_001253815,NR_045600,NM_024531 SLC52A2,SLC52A2,SLC52A2,SLC52A2 EXON Missense_A124S,Missense_A124S,Silent,Missense_A124S exm731545 8 145583630 [A/G] NM_001253816,NM_001253815,NR_045600,NM_024531 SLC52A2,SLC52A2,SLC52A2,SLC52A2 EXON Missense_V160M,Missense_V160M,Silent,Missense_V160M exm731564 8 145583976 [A/G] NM_001253816,NM_001253815,NR_045600,NM_024531 SLC52A2,SLC52A2,SLC52A2,SLC52A2 EXON Missense_R275H,Missense_R275H,Silent,Missense_R275H exm731573 8 145584072 [A/G] NM_001253816,NM_001253815,NR_045600,NM_024531 SLC52A2,SLC52A2,SLC52A2,SLC52A2 EXON Missense_R307H,Missense_R307H,Silent,Missense_R307H exm731579 8 145584287 [A/G] NM_001253816,NM_001253815,NR_045600,NM_024531 SLC52A2,SLC52A2,SLC52A2,SLC52A2 EXON Missense_V347M,Missense_V347M,Silent,Missense_V347M exm731600 8 145584614 [T/C] NM_001253816,NM_001253815,NR_045600,NM_024531 SLC52A2,SLC52A2,SLC52A2,SLC52A2 EXON Missense_P426L,Missense_P426L,Silent,Missense_P426L exm731612 8 145603114 [A/C] NM_174922 ADCK5 EXON Missense_R17S exm731641 8 145616218 [A/G] NM_174922 ADCK5 EXON Missense_V169M exm731642 8 145616242 [T/C] NM_174922 ADCK5 EXON Missense_R177W exm731649 8 145616437 [A/G] NM_174922 ADCK5 EXON Missense_R216K exm731654 8 145616829 [A/G] NM_174922 ADCK5 EXON Missense_R283H exm2166431 8 145617023 [A/G] NM_174922 ADCK5 EXON Missense_N324S exm731673 8 145617749 [A/G] NM_174922 ADCK5 EXON Missense_A453T exm731682 8 145618184 [A/G] NM_174922 ADCK5 EXON Synonymous_R546R exm731685 8 145618248 [T/G] NM_174922 ADCK5 EXON Missense_V568L exm2258739 8 145618769 [A/G] NM_013291 CPSF1 EXON Synonymous_A1394A exm731695 8 145618769 [A/G] NM_013291 CPSF1 EXON Synonymous_A1394A exm731709 8 145619131 [T/C] NM_013291 CPSF1 EXON Missense_V1328I exm731710 8 145619133 [A/G] NM_013291 CPSF1 EXON Missense_S1327L exm731714 8 145619164 [A/G] NM_013291 CPSF1 EXON Missense_R1317W exm731767 8 145620661 [A/C] NM_013291 CPSF1 EXON Missense_V1029L exm731778 8 145621648 [A/G] NM_013291 CPSF1 EXON Missense_P965L exm731812 8 145622722 [A/G] NM_013291 CPSF1 EXON Missense_R789W exm731813 8 145622755 [A/G] NM_013291 CPSF1 EXON Missense_R778W exm731821 8 145622971 [A/C] NM_013291 CPSF1 EXON Missense_G733C exm731848 8 145623785 [T/C] NM_013291 CPSF1 EXON Missense_A601T exm731933 8 145625775 [C/G] NM_013291 CPSF1 EXON Missense_Q267E exm731944 8 145626139 [G/C] NM_013291 CPSF1 EXON Missense_I204M exm731954 8 145626438 [T/C] NM_013291 CPSF1 EXON Missense_R140Q exm731964 8 145626956 [G/C] NM_013291 CPSF1 EXON Missense_E58D exm731968 8 145634413 [T/G] NM_013291 CPSF1 EXON Missense_N44H exm2166556 8 145634556 [A/G] NM_013291 CPSF1 EXON Silent exm731995 8 145638286 [T/C] NM_017767,NM_130849 SLC39A4,SLC39A4 EXON Missense_A533T,Missense_A558T exm731999 8 145638753 [T/C] NM_017767,NM_130849 SLC39A4,SLC39A4 EXON Missense_M474V,Missense_M499V exm732019 8 145639425 [A/G] NM_017767,NM_130849 SLC39A4,SLC39A4 EXON Missense_R377C,Missense_R402C exm732020 8 145639426 [T/C] NM_017767,NM_130849 SLC39A4,SLC39A4 EXON Nonsense_W376X,Nonsense_W401X exm732025 8 145639654 [T/C] NM_017767,NM_130849 SLC39A4,SLC39A4 EXON Missense_T356A,Missense_T381A exm732026 8 145639669 [T/C] NM_017767,NM_130849 SLC39A4,SLC39A4 EXON Missense_A351T,Missense_A376T exm732028 8 145639681 [C/G] NM_017767,NM_130849 SLC39A4,SLC39A4 EXON Missense_L347V,Missense_L372V exm732031 8 145639726 [T/C] NM_017767,NM_130849 SLC39A4,SLC39A4 EXON Missense_T332A,Missense_T357A exm732034 8 145639773 [A/G] NM_017767,NM_130849 SLC39A4,SLC39A4 EXON Missense_A316V,Missense_A341V exm732045 8 145640228 [A/G] NM_017767,NM_130849 SLC39A4,SLC39A4 EXON Missense_A261V,Missense_A286V exm732048 8 145640235 [T/C] NM_017767,NM_130849 SLC39A4,SLC39A4 EXON Missense_E259K,Missense_E284K exm732049 8 145640237 [A/G] NM_017767,NM_130849 SLC39A4,SLC39A4 EXON Missense_S258L,Missense_S283L exm2166584 8 145640359 [A/G] NM_017767,NM_130849 SLC39A4,SLC39A4 EXON Missense_T243M,Missense_T268M exm732055 8 145640411 [A/G] NM_017767,NM_130849 SLC39A4,SLC39A4 EXON Missense_W226R,Missense_W251R exm732058 8 145640474 [A/G] NM_017767,NM_130849 SLC39A4,SLC39A4 EXON Missense_R205C,Missense_R230C exm732060 8 145640612 [A/G] NM_017767,NM_130849 SLC39A4,SLC39A4 EXON Synonymous_A197A,Synonymous_A222A exm2166593 8 145640632 [T/C] NM_017767,NM_130849 SLC39A4,SLC39A4 EXON Missense_E191K,Missense_E216K exm732067 8 145640679 [A/G] NM_017767,NM_130849 SLC39A4,SLC39A4 EXON Missense_P175L,Missense_P200L exm732069 8 145640701 [T/C] NM_017767,NM_130849 SLC39A4,SLC39A4 EXON Missense_G168R,Missense_G193R exm732071 8 145640734 [T/C] NM_017767,NM_130849 SLC39A4,SLC39A4 EXON Missense_V157I,Missense_V182I exm732074 8 145640746 [A/T] NM_017767,NM_130849 SLC39A4,SLC39A4 EXON Missense_S153C,Missense_S178C exm732081 8 145641195 [A/G] NM_017767,NM_130849 SLC39A4,SLC39A4 EXON Missense_T133M,Missense_T158M exm732084 8 145641328 [T/C] NM_017767,NM_130849 SLC39A4,SLC39A4 EXON Missense_A89T,Missense_A114T exm732100 8 145641466 [A/C] NM_017767,NM_130849 SLC39A4,SLC39A4 EXON Missense_V43L,Missense_V68L exm732108 8 145641552 [T/C] NM_017767,NM_130849 SLC39A4,SLC39A4 EXON Missense_R14Q,Silent exm732109 8 145641553 [A/G] NM_017767,NM_130849 SLC39A4,SLC39A4 EXON Missense_R14W,Silent exm732112 8 145641588 [A/G] NM_017767,NM_130849 SLC39A4,SLC39A4 EXON Missense_V2A,Silent exm732117 8 145642002 [T/C] NM_130849 SLC39A4 EXON Missense_A58T exm732176 8 145651124 [T/C] NM_183057,NM_016208 VPS28,VPS28 EXON Missense_V46M,Missense_V46M exm2258740 8 145651572 [T/C] NM_183057,NM_016208 VPS28,VPS28 EXON Synonymous_E19E,Synonymous_E19E exm732223 8 145655903 [A/G] NM_013432 TONSL EXON Missense_P1276L exm732244 8 145657827 [T/C] NM_013432 TONSL EXON Synonymous_K1192K exm2258741 8 145657827 [T/C] NM_013432 TONSL EXON Synonymous_K1192K exm732246 8 145657840 [A/G] NM_013432 TONSL EXON Missense_A1188V exm732252 8 145659010 [A/G] NM_013432 TONSL EXON Missense_F1174L exm732253 8 145659012 [A/C] NM_013432 TONSL EXON Missense_F1173C exm732254 8 145659015 [A/C] NM_013432 TONSL EXON Missense_S1172I exm732255 8 145659016 [T/C] NM_013432 TONSL EXON Missense_S1172G exm732257 8 145659022 [T/C] NM_013432 TONSL EXON Missense_G1170S exm732266 8 145659498 [T/C] NM_013432 TONSL EXON Missense_D1084N exm2166674 8 145661042 [A/C] NM_013432 TONSL EXON Missense_L925W exm732292 8 145661055 [C/G] NM_013432 TONSL EXON Missense_A921P exm732299 8 145661139 [T/C] NM_013432 TONSL EXON Missense_A893T exm732310 8 145661286 [A/G] NM_013432 TONSL EXON Missense_R844C exm732312 8 145661294 [A/G] NM_013432 TONSL EXON Missense_P841L exm732322 8 145661453 [T/C] NM_013432 TONSL EXON Missense_S788N exm732334 8 145661648 [A/G] NM_013432 TONSL EXON Missense_A723V exm732337 8 145661675 [A/G] NM_013432 TONSL EXON Missense_A714V exm732346 8 145662005 [G/C] NM_013432 TONSL EXON Missense_D650E exm732347 8 145662045 [A/G] NM_013432 TONSL EXON Missense_T637M exm732349 8 145662065 [G/C] NM_013432 TONSL Silent exm732359 8 145662262 [T/C] NM_013432 TONSL EXON Missense_D590N exm732362 8 145662295 [A/G] NM_013432 TONSL EXON Missense_R579C exm2166703 8 145663874 [T/C] NM_013432 TONSL EXON Missense_V545I exm732383 8 145665407 [T/C] NM_013432 TONSL EXON Missense_G493S exm732384 8 145665422 [T/C] NM_013432 TONSL EXON Missense_V488M exm732416 8 145666147 [T/C] NM_013432 TONSL EXON Missense_R373H exm732417 8 145666148 [A/G] NM_013432 TONSL EXON Missense_R373C exm732418 8 145666151 [C/G] NM_013432 TONSL EXON Missense_V372L exm732439 8 145667476 [T/C] NM_013432 TONSL EXON Missense_R270K exm732444 8 145667662 [A/G] NM_013432 TONSL EXON Missense_R238W exm732445 8 145667664 [T/C] NM_013432 TONSL EXON Missense_K237R exm732451 8 145667715 [T/C] NM_013432 TONSL EXON Missense_Q220R exm732453 8 145667730 [A/G] NM_013432 TONSL EXON Missense_A215V exm732481 8 145675968 [T/C] NM_138496 CYHR1 EXON Missense_A295T exm732499 8 145689685 [A/G] NM_138496,NM_032687,NM_001129888 CYHR1,CYHR1,CYHR1 EXON Silent,Missense_A135V,Missense_A135V exm2166741 8 145689743 [T/C] NM_138496,NM_032687,NM_001129888 CYHR1,CYHR1,CYHR1 EXON Silent,Missense_G116S,Missense_G116S exm732509 8 145689806 [A/C] NM_138496,NM_032687,NM_001129888 CYHR1,CYHR1,CYHR1 EXON Silent,Nonsense_G95X,Nonsense_G95X exm732548 8 145692363 [A/G] NM_145754 KIFC2 EXON Missense_G67E exm2277363 8 145692713 [G/C] NM_145754 KIFC2 EXON Missense_P153R exm2166772 8 145692876 [T/C] NM_145754 KIFC2 EXON Missense_S160P exm732582 8 145692951 [T/C] NM_145754 KIFC2 EXON Missense_P185S exm732586 8 145692998 [T/G] NM_145754 KIFC2 EXON Missense_Q200H exm732621 8 145694001 [A/G] NM_145754 KIFC2 EXON Missense_R324H exm732631 8 145694720 [C/G] NM_145754 KIFC2 EXON Missense_G394R exm732637 8 145694912 [T/C] NM_145754 KIFC2 EXON Missense_S421F exm732639 8 145694926 [A/C] NM_145754 KIFC2 EXON Missense_S426R exm732641 8 145694944 [T/G] NM_145754 KIFC2 EXON Missense_G432W exm2166807 8 145694969 [A/G] NM_145754 KIFC2 EXON Missense_R440Q exm732676 8 145698599 [C/G] NM_145754 KIFC2 EXON Missense_Q761H exm732679 8 145698667 [T/C] NM_145754 KIFC2 EXON Missense_P784L exm732687 8 145698765 [T/C] NM_145754 KIFC2 EXON Missense_P817S exm732700 8 145699735 [G/C] NM_003923 FOXH1 EXON Missense_D328E exm732704 8 145699786 [G/C] NM_003923 FOXH1 EXON Missense_W311C exm732733 8 145700232 [A/G] NM_003923 FOXH1 EXON Missense_P163S exm732739 8 145700333 [T/C] NM_003923 FOXH1 EXON Missense_R129Q exm732746 8 145700385 [T/C] NM_003923 FOXH1 EXON Missense_V112M exm732761 8 145701093 [A/G] NM_003923 FOXH1 EXON Missense_S16L exm732770 8 145722584 [A/G] NM_032902 PPP1R16A EXON Missense_E3K exm732772 8 145722620 [C/G] NM_032902 PPP1R16A EXON Missense_G15R exm732774 8 145722624 [A/G] NM_032902 PPP1R16A EXON Missense_R16K exm732793 8 145724384 [T/C] NM_032902 PPP1R16A EXON Missense_T139M exm732801 8 145725554 [A/C] NM_032902 PPP1R16A EXON Missense_D184E exm732822 8 145726546 [A/G] NM_032902 PPP1R16A EXON Missense_T358A exm732836 8 145726979 [T/G] NM_032902 PPP1R16A EXON Missense_R427L exm732837 8 145727027 [T/C] NM_032902 PPP1R16A EXON Missense_T443I exm732839 8 145727047 [A/G] NM_032902 PPP1R16A EXON Missense_D450N exm2246639 8 145727240 [T/C] NM_032902 PPP1R16A EXON Missense_A514V exm732848 8 145727251 [T/C] NM_032902 PPP1R16A EXON Missense_P518S exm732855 8 145729710 [A/G] NM_005309 GPT EXON Missense_R8Q exm732856 8 145729719 [A/C] NM_005309 GPT EXON Missense_A11E exm732859 8 145729727 [A/C] NM_005309 GPT EXON Missense_H14N exm2258742 8 145729741 [A/G] NM_005309 GPT EXON Synonymous_A18A exm2166880 8 145729741 [A/G] NM_005309 GPT EXON Synonymous_A18A exm732868 8 145729793 [A/G] NM_005309 GPT EXON Missense_A36T exm732874 8 145730000 [T/C] NM_005309 GPT EXON Missense_P59L exm732876 8 145730018 [A/G] NM_005309 GPT EXON Missense_R65H exm732878 8 145730072 [A/G] NM_005309 GPT EXON Missense_R83H exm732879 8 145730161 [T/C] NM_005309 GPT EXON Missense_A87V exm732884 8 145730221 [A/G] NM_005309 GPT EXON Missense_R107K exm732894 8 145730401 [A/G] NM_005309 GPT EXON Missense_G128S exm732899 8 145730447 [A/G] NM_005309 GPT EXON Missense_R143H exm732901 8 145730452 [A/G] NM_005309 GPT EXON Missense_G145R exm2166895 8 145730479 [A/G] NM_005309 GPT EXON Missense_V154I exm732912 8 145730775 [A/G] NM_005309 GPT EXON Nonsense_W214X exm732915 8 145730809 [T/G] NM_005309 GPT EXON Missense_G226C exm2166904 8 145731257 [G/C] NM_005309 GPT EXON Missense_E256Q exm732923 8 145731287 [C/G] NM_005309 GPT EXON Missense_R266G exm732946 8 145732151 [A/G] NM_005309 GPT EXON Missense_R442H exm732948 8 145732180 [G/C] NM_005309 GPT EXON Missense_V452L exm732957 8 145732358 [T/C] NM_005309 GPT EXON Missense_A489V exm732986 8 145735793 [A/G] NM_138431 MFSD3 EXON Missense_V245I exm732987 8 145735814 [G/C] NM_138431 MFSD3 EXON Missense_L252V exm732998 8 145736018 [T/C] NM_138431 MFSD3 EXON Missense_R290C exm733000 8 145736024 [A/G] NM_138431 MFSD3 EXON Missense_G292R exm733004 8 145736064 [T/A] NM_138431 MFSD3 EXON Missense_D305V exm733007 8 145736086 [A/C] NM_138431 MFSD3 EXON Missense_D312E exm733014 8 145736215 [A/G] NM_138431 MFSD3 EXON Missense_G332R exm733018 8 145736254 [T/C] NM_138431 MFSD3 EXON Missense_R345C exm733019 8 145736255 [A/G] NM_138431 MFSD3 EXON Missense_R345H exm733025 8 145736389 [T/C] NM_138431 MFSD3 EXON Missense_L361F exm733026 8 145736407 [G/C] NM_138431 MFSD3 EXON Missense_L367V exm2166940 8 145736440 [A/G] NM_138431 MFSD3 EXON Missense_G378R exm733033 8 145736521 [A/G] NM_138431 MFSD3 EXON Missense_D405N exm733038 8 145736819 [A/G] NM_004260 RECQL4 EXON Missense_R1208C exm733039 8 145736832 [A/G] NM_004260 RECQL4 EXON Synonymous_L1203L exm733040 8 145736841 [T/C] NM_004260 RECQL4 EXON Synonymous_T1200T exm733041 8 145736847 [T/C] NM_004260 RECQL4 EXON Synonymous_L1198L exm733052 8 145737071 [A/G] NM_004260 RECQL4 EXON Synonymous_H1165H exm733053 8 145737086 [T/C] NM_004260 RECQL4 EXON Synonymous_V1160V exm733059 8 145737136 [A/G] NM_004260 RECQL4 EXON Missense_R1144C exm733060 8 145737142 [T/C] NM_004260 RECQL4 EXON Missense_D1142N exm733066 8 145737295 [T/C] NM_004260 RECQL4 EXON Missense_R1131K exm733071 8 145737324 [A/G] NM_004260 RECQL4 EXON Synonymous_D1121D exm733074 8 145737350 [G/C] NM_004260 RECQL4 EXON Missense_G1113R exm733079 8 145737374 [T/C] NM_004260 RECQL4 EXON Missense_G1105S exm733086 8 145737579 [A/G] NM_004260 RECQL4 EXON Missense_R1062W exm733089 8 145737607 [A/G] NM_004260 RECQL4 EXON Synonymous_C1052C exm733091 8 145737630 [T/C] NM_004260 RECQL4 EXON Missense_A1045T exm733093 8 145737636 [A/G] NM_004260 RECQL4 EXON Synonymous_L1043L exm733101 8 145737705 [T/C] NM_004260 RECQL4 EXON Missense_V1020M exm733104 8 145737820 [A/G] NM_004260 RECQL4 EXON Missense_R1004W exm733105 8 145737821 [T/C] NM_004260 RECQL4 EXON Synonymous_V1003V exm733106 8 145737863 [T/C] NM_004260 RECQL4 EXON Missense_M989I exm733109 8 145737877 [T/C] NM_004260 RECQL4 EXON Missense_V985M exm733115 8 145738093 [T/C] NM_004260 RECQL4 EXON Synonymous_A939A exm733140 8 145738399 [T/C] NM_004260 RECQL4 EXON Synonymous_S862S exm733141 8 145738440 [T/C] NM_004260 RECQL4 EXON Missense_V849M exm733142 8 145738441 [A/G] NM_004260 RECQL4 EXON Synonymous_R848R exm733145 8 145738467 [A/G] NM_004260 RECQL4 EXON Synonymous_L840L exm733159 8 145738669 [T/C] NM_004260 RECQL4 EXON Missense_V799M exm733169 8 145738796 [A/G] NM_004260 RECQL4 EXON Nonsense_Q757X exm733171 8 145738804 [T/C] NM_004260 RECQL4 EXON Missense_R754Q exm733186 8 145739030 [A/G] NM_004260 RECQL4 EXON Missense_R709W exm733198 8 145739416 [T/C] NM_004260 RECQL4 EXON Missense_V652M exm733204 8 145739583 [T/C] NM_004260 RECQL4 EXON Missense_R623H exm733205 8 145739604 [T/C] NM_004260 RECQL4 EXON Missense_N616S exm733211 8 145739679 [A/G] NM_004260 RECQL4 EXON Missense_P591L exm733215 8 145739833 [A/G] NM_004260 RECQL4 EXON Missense_L566P exm733219 8 145739846 [A/G] NM_004260 RECQL4 EXON Missense_R562W exm733230 8 145740376 [A/G] NM_004260 RECQL4 EXON Missense_R522C exm733244 8 145740752 [T/C] NM_004260 RECQL4 EXON Missense_V450M exm733257 8 145741247 [T/C] NM_004260 RECQL4 EXON Missense_G387R exm733267 8 145741413 [T/C] NM_004260 RECQL4 EXON Missense_V364M exm733287 8 145741686 [T/C] NM_004260 RECQL4 EXON Missense_A273T exm733289 8 145741702 [G/C] NM_004260 RECQL4 EXON Missense_E267D exm733297 8 145741787 [A/G] NM_004260 RECQL4 EXON Missense_A239V exm733304 8 145741857 [T/C] NM_004260 RECQL4 EXON Missense_E216K exm733309 8 145741938 [T/C] NM_004260 RECQL4 EXON Missense_G189S exm733313 8 145741989 [A/G] NM_004260 RECQL4 EXON Missense_L172F exm733329 8 145742480 [A/G] NM_004260 RECQL4 EXON Missense_P103L exm733333 8 145742514 [A/G] NM_004260 RECQL4 EXON Missense_S92P exm733345 8 145742850 [T/C] NM_004260 RECQL4 EXON Missense_Q54R exm733355 8 145745251 [T/C] NM_014665,NM_001272036 LRRC14,LRRC14 EXON Missense_R48C,Missense_R48C exm2258743 8 145745268 [A/G] NM_014665,NM_001272036 LRRC14,LRRC14 EXON Synonymous_T53T,Synonymous_T53T exm733367 8 145745431 [G/C] NM_014665,NM_001272036 LRRC14,LRRC14 EXON Missense_L108V,Missense_L108V exm733376 8 145745747 [A/T] NM_014665,NM_001272036 LRRC14,LRRC14 EXON Missense_Q152L,Missense_Q152L exm733407 8 145746384 [T/C] NM_014665,NM_001272036 LRRC14,LRRC14 EXON Missense_A335V,Missense_A335V exm733412 8 145746552 [A/G] NM_014665,NM_001272036 LRRC14,LRRC14 EXON Missense_Q391R,Missense_Q391R exm733416 8 145746603 [T/C] NM_014665,NM_001272036 LRRC14,LRRC14 EXON Missense_A408V,Missense_A408V exm733424 8 145746755 [T/C] NM_014665,NM_001272036 LRRC14,LRRC14 EXON Missense_R459C,Missense_R459C exm733426 8 145746788 [A/G] NM_014665,NM_001272036 LRRC14,LRRC14 EXON Missense_A470T,Missense_A470T exm733458 8 145748173 [T/C] NM_014665,NM_001272036,NM_001024678 LRRC14,LRRC14,LRRC24 EXON Silent,Silent,Missense_A410T exm733500 8 145749835 [A/G] NM_014665,NM_001272036,NM_001024678 LRRC14,LRRC14,LRRC24 EXON Silent,Silent,Missense_L143S exm733504 8 145750000 [A/G] NM_014665,NM_001272036,NM_001024678 LRRC14,LRRC14,LRRC24 EXON Silent,Silent,Missense_A88V exm733506 8 145750072 [T/C] NM_014665,NM_001272036,NM_001024678 LRRC14,LRRC14,LRRC24 EXON Silent,Silent,Missense_R64H exm733530 8 145753132 [C/G] NM_001001795 C8orf82 EXON Missense_P82R exm733533 8 145753161 [T/G] NM_001001795 C8orf82 EXON Missense_F72L exm2167047 8 145755918 [C/G] NM_025251 ARHGAP39 EXON Missense_R1078P exm2258744 8 145758635 [A/G] NM_025251 ARHGAP39 EXON Synonymous_S921S exm733568 8 145758661 [T/C] NM_025251 ARHGAP39 EXON Missense_V913M exm2167071 8 145763152 [T/G] NM_025251 ARHGAP39 EXON Missense_K856T exm2167072 8 145763153 [A/T] NM_025251 ARHGAP39 EXON Nonsense_K856X exm733582 8 145770648 [T/C] NM_025251 ARHGAP39 EXON Missense_V836I exm2258745 8 145770775 [A/G] NM_025251 ARHGAP39 EXON Synonymous_T793T exm733606 8 145771079 [A/G] NM_025251 ARHGAP39 EXON Missense_T692M exm733612 8 145771154 [T/C] NM_025251 ARHGAP39 EXON Missense_R667Q exm733619 8 145772564 [T/C] NM_025251 ARHGAP39 EXON Missense_V636I exm733621 8 145772584 [T/C] NM_025251 ARHGAP39 EXON Missense_Q629R exm733641 8 145772939 [T/C] NM_025251 ARHGAP39 EXON Missense_E511K exm733664 8 145773376 [A/G] NM_025251 ARHGAP39 EXON Missense_P365L exm733688 8 145773779 [T/C] NM_025251 ARHGAP39 EXON Missense_G231S exm733701 8 145806284 [A/G] NM_025251 ARHGAP39 EXON Missense_P153L exm2167105 8 145830957 [C/G] NM_025251 ARHGAP39 EXON Missense_D15H exm733721 8 145947075 [A/C] NM_138367 ZNF251 EXON Missense_R657I exm733722 8 145947118 [T/C] NM_138367 ZNF251 EXON Missense_T643A exm733735 8 145947382 [G/C] NM_138367 ZNF251 EXON Missense_L555V exm733739 8 145947459 [G/C] NM_138367 ZNF251 EXON Missense_S529C exm2246650 8 145947498 [C/G] NM_138367 ZNF251 EXON Missense_R516P exm733763 8 145948111 [A/G] NM_138367 ZNF251 EXON Missense_R312W exm733774 8 145948440 [T/C] NM_138367 ZNF251 EXON Missense_N202S exm733805 8 145998769 [T/C] NM_030580 ZNF34 EXON Missense_R522Q exm733824 8 145999168 [T/G] NM_030580 ZNF34 EXON Missense_K389T exm733834 8 145999411 [T/C] NM_030580 ZNF34 EXON Missense_R308Q exm2167133 8 145999498 [T/A] NM_030580 ZNF34 EXON Missense_Y279F exm733845 8 145999738 [A/G] NM_030580 ZNF34 EXON Missense_I199T exm733850 8 145999835 [A/C] NM_030580 ZNF34 EXON Missense_V167F exm2167141 8 146015154 [A/T] NM_033301,NM_000973 RPL8,RPL8 EXON Silent,Silent exm733881 8 146016869 [T/C] NM_033301,NM_000973 RPL8,RPL8 EXON Missense_I98V,Missense_I98V exm2258748 8 146017180 [T/C] NM_033301,NM_000973 RPL8,RPL8 EXON Synonymous_Q86Q,Synonymous_Q86Q exm733902 8 146017424 [C/G] NM_033301,NM_000973 RPL8,RPL8 EXON Missense_A31P,Missense_A31P exm733906 8 146028316 [T/C] NM_213605 ZNF517 EXON Missense_P6L exm733919 8 146029077 [A/C] NM_213605 ZNF517 EXON Missense_S29R exm733920 8 146029084 [T/G] NM_213605 ZNF517 EXON Missense_L31R exm2258749 8 146029091 [T/C] NM_213605 ZNF517 EXON Synonymous_P33P exm733925 8 146029540 [A/C] NM_213605 ZNF517 EXON Missense_S64Y exm2246657 8 146029590 [A/G] NM_213605 ZNF517 EXON Missense_E81K exm733941 8 146032842 [A/G] NM_213605 ZNF517 EXON Missense_V181M exm733950 8 146033023 [G/C] NM_213605 ZNF517 EXON Missense_A241G exm733960 8 146033273 [T/G] NM_213605 ZNF517 EXON Missense_Q324H exm733961 8 146033280 [A/C] NM_213605 ZNF517 EXON Missense_I327L exm733963 8 146033310 [T/C] NM_213605 ZNF517 EXON Missense_R337W exm733978 8 146033544 [T/C] NM_213605 ZNF517 EXON Nonsense_Q415X exm733984 8 146033637 [T/C] NM_213605 ZNF517 EXON Missense_H446Y exm733989 8 146033748 [C/G] NM_213605 ZNF517 EXON Missense_E483Q exm2270940 8 146045868 [T/C] exm734000 8 146062841 [T/C] NM_003416 ZNF7 EXON Missense_L66F exm734002 8 146062872 [T/C] NM_003416 ZNF7 EXON Missense_A76V exm734006 8 146066750 [T/G] NM_003416 ZNF7 EXON Missense_I86M exm734007 8 146066773 [G/C] NM_003416 ZNF7 EXON Missense_C94S exm734021 8 146067024 [A/G] NM_003416 ZNF7 EXON Missense_G178S exm734022 8 146067054 [A/G] NM_003416 ZNF7 EXON Missense_G188R exm734047 8 146067502 [A/G] NM_003416 ZNF7 EXON Missense_R337H exm734088 8 146068429 [A/G] NM_003416 ZNF7 EXON Missense_R646H exm2167190 8 146076066 [A/G] NM_001081003,NM_014066,NM_001081004 COMMD5,COMMD5,COMMD5 EXON Missense_R220C,Missense_R220C,Missense_R220C exm734104 8 146076188 [T/C] NM_001081003,NM_014066,NM_001081004 COMMD5,COMMD5,COMMD5 EXON Missense_Q179R,Missense_Q179R,Missense_Q179R exm734129 8 146076674 [G/C] NM_001081003,NM_014066,NM_001081004 COMMD5,COMMD5,COMMD5 EXON Missense_S17T,Missense_S17T,Missense_S17T exm734131 8 146076708 [T/C] NM_001081003,NM_014066,NM_001081004 COMMD5,COMMD5,COMMD5 EXON Missense_A6T,Missense_A6T,Missense_A6T exm734143 8 146107246 [G/C] NM_021061,NM_001109689 ZNF250,ZNF250 EXON Missense_T446S,Missense_T441S exm734152 8 146107544 [T/C] NM_021061,NM_001109689 ZNF250,ZNF250 EXON Missense_T347A,Missense_T342A exm734156 8 146107712 [T/C] NM_021061,NM_001109689 ZNF250,ZNF250 EXON Missense_A291T,Missense_A286T exm734158 8 146107733 [T/C] NM_021061,NM_001109689 ZNF250,ZNF250 EXON Missense_E284K,Missense_E279K exm734162 8 146108003 [T/A] NM_021061,NM_001109689 ZNF250,ZNF250 EXON Missense_S194C,Missense_S189C exm734170 8 146108164 [A/G] NM_021061,NM_001109689 ZNF250,ZNF250 EXON Missense_S140L,Missense_S135L exm734192 8 146156167 [T/C] NM_001029976,NM_006958 ZNF16,ZNF16 EXON Missense_R669Q,Missense_R669Q exm734224 8 146156638 [A/G] NM_001029976,NM_006958 ZNF16,ZNF16 EXON Missense_T512I,Missense_T512I exm734225 8 146156645 [T/C] NM_001029976,NM_006958 ZNF16,ZNF16 EXON Missense_V510M,Missense_V510M exm734230 8 146156729 [T/C] NM_001029976,NM_006958 ZNF16,ZNF16 EXON Missense_I482V,Missense_I482V exm734237 8 146156921 [A/C] NM_001029976,NM_006958 ZNF16,ZNF16 EXON Missense_S418A,Missense_S418A exm734242 8 146157104 [G/C] NM_001029976,NM_006958 ZNF16,ZNF16 EXON Missense_A357P,Missense_A357P exm734250 8 146157256 [A/G] NM_001029976,NM_006958 ZNF16,ZNF16 EXON Missense_S306L,Missense_S306L exm734251 8 146157265 [T/C] NM_001029976,NM_006958 ZNF16,ZNF16 EXON Missense_S303N,Missense_S303N exm734254 8 146157317 [A/G] NM_001029976,NM_006958 ZNF16,ZNF16 EXON Missense_H286Y,Missense_H286Y exm734257 8 146157368 [T/C] NM_001029976,NM_006958 ZNF16,ZNF16 EXON Missense_E269K,Missense_E269K exm734262 8 146157493 [T/C] NM_001029976,NM_006958 ZNF16,ZNF16 EXON Missense_R227H,Missense_R227H exm734270 8 146157646 [A/G] NM_001029976,NM_006958 ZNF16,ZNF16 EXON Missense_T176I,Missense_T176I exm2258750 8 146157810 [A/G] NM_001029976,NM_006958 ZNF16,ZNF16 EXON Synonymous_P121P,Synonymous_P121P exm734275 8 146157810 [A/G] NM_001029976,NM_006958 ZNF16,ZNF16 EXON Synonymous_P121P,Synonymous_P121P exm734278 8 146157860 [T/C] NM_001029976,NM_006958 ZNF16,ZNF16 EXON Missense_E105K,Missense_E105K exm734279 8 146157862 [A/G] NM_001029976,NM_006958 ZNF16,ZNF16 EXON Missense_P104L,Missense_P104L exm734294 8 146171574 [A/G] NM_001029976,NM_006958 ZNF16,ZNF16 EXON Missense_R7C,Missense_R7C exm-rs2272714 8 146225112 [T/C] NR_023392 ZNF252P EXON Silent exm2271026 8 146225280 [T/C] NR_023392 ZNF252P Silent exm734341 8 146278152 [A/G] NM_023080 C8orf33 EXON Missense_E63K exm734348 8 146278197 [T/C] NM_023080 C8orf33 EXON Missense_R78W exm734355 8 146278460 [A/G] NM_023080 C8orf33 EXON Missense_A111T exm2167238 8 146278473 [T/C] NM_023080 C8orf33 EXON Missense_A115V exm734360 8 146278811 [A/C] NM_023080 C8orf33 EXON Missense_L178M exm734369 8 146279479 [G/C] NM_023080 C8orf33 EXON Missense_S209C exm2167245 8 146279508 [A/G] NM_023080 C8orf33 EXON Missense_M219V exm734565 9 214517 [A/C] NM_152569 C9orf66 EXON Missense_D294Y exm734573 9 214606 [A/C] NM_152569 C9orf66 EXON Missense_L264R exm734574 9 214608 [G/C] NM_152569 C9orf66 EXON Missense_K263N exm734588 9 214844 [T/C] NM_152569 C9orf66 EXON Missense_A185T exm734589 9 214847 [A/C] NM_152569 C9orf66 EXON Missense_S184A exm734590 9 214864 [T/C] NM_152569 C9orf66 EXON Missense_R178Q exm734598 9 214991 [A/G] NM_152569,NM_203447 C9orf66,DOCK8 EXON Missense_R136W,Synonymous_P5P exm734603 9 215057 [T/C] NM_152569,NM_203447 C9orf66,DOCK8 EXON Missense_N114D,Silent exm734617 9 215269 [A/C] NM_152569,NM_203447 C9orf66,DOCK8 EXON Missense_L43R,Silent exm734621 9 215296 [A/G] NM_152569,NM_203447 C9orf66,DOCK8 EXON Missense_V34A,Silent exm734625 9 215329 [A/G] NM_152569,NM_203447 C9orf66,DOCK8 EXON Missense_T23I,Silent exm734637 9 271729 [A/G] NM_203447 DOCK8 EXON Synonymous_L52L exm734639 9 286491 [A/G] NM_203447,NM_001193536,NM_001190458 DOCK8,DOCK8,DOCK8 EXON Missense_D63N,Silent,Silent exm734648 9 286618 [G/C] NM_203447,NM_001193536,NM_001190458 DOCK8,DOCK8,DOCK8 EXON Missense_P105R,Missense_P37R,Missense_P37R exm734651 9 289555 [C/G] NM_203447,NM_001193536,NM_001190458 DOCK8,DOCK8,DOCK8 EXON Missense_I126M,Missense_I58M,Missense_I58M exm734652 9 289557 [A/G] NM_203447,NM_001193536,NM_001190458 DOCK8,DOCK8,DOCK8 EXON Missense_R127H,Missense_R59H,Missense_R59H exm734655 9 304628 [A/G] NM_203447,NM_001193536,NM_001190458 DOCK8,DOCK8,DOCK8 EXON Missense_R151Q,Missense_R83Q,Missense_R83Q exm734659 9 304670 [T/C] NM_203447,NM_001193536,NM_001190458 DOCK8,DOCK8,DOCK8 EXON Missense_S165L,Missense_S97L,Missense_S97L exm734664 9 311966 [G/C] NM_203447,NM_001193536,NM_001190458 DOCK8,DOCK8,DOCK8 EXON Missense_H181D,Missense_H113D,Missense_H113D exm734666 9 311975 [A/G] NM_203447,NM_001193536,NM_001190458 DOCK8,DOCK8,DOCK8 EXON Missense_V184M,Missense_V116M,Missense_V116M exm734680 9 312088 [A/C] NM_203447,NM_001193536,NM_001190458 DOCK8,DOCK8,DOCK8 EXON Missense_D221E,Missense_D153E,Missense_D153E exm2194102 9 312104 [A/G] NM_203447,NM_001193536,NM_001190458 DOCK8,DOCK8,DOCK8 EXON Missense_E227K,Missense_E159K,Missense_E159K exm734684 9 312134 [A/G] NM_203447,NM_001193536,NM_001190458 DOCK8,DOCK8,DOCK8 EXON Missense_E237K,Missense_E169K,Missense_E169K exm734702 9 328079 [A/G] NM_203447,NM_001193536,NM_001190458 DOCK8,DOCK8,DOCK8 EXON Missense_A318T,Missense_A250T,Missense_A250T exm734707 9 328113 [T/C] NM_203447,NM_001193536,NM_001190458 DOCK8,DOCK8,DOCK8 EXON Missense_A329V,Missense_A261V,Missense_A261V exm734711 9 328163 [A/G] NM_203447,NM_001193536,NM_001190458 DOCK8,DOCK8,DOCK8 EXON Missense_V346I,Missense_V278I,Missense_V278I exm734713 9 332443 [T/C] NM_203447,NM_001193536,NM_001190458 DOCK8,DOCK8,DOCK8 EXON Missense_P364S,Missense_P296S,Missense_P296S exm734720 9 334292 [A/G] NM_203447,NM_001193536,NM_001190458 DOCK8,DOCK8,DOCK8 EXON Missense_R398Q,Missense_R330Q,Missense_R330Q exm734722 9 334337 [A/G] NM_203447,NM_001193536,NM_001190458 DOCK8,DOCK8,DOCK8 EXON Missense_N413S,Missense_N345S,Missense_N345S exm734736 9 340224 [A/C] NM_203447,NM_001193536,NM_001190458 DOCK8,DOCK8,DOCK8 EXON Missense_L528M,Missense_L460M,Missense_L460M exm2194799 9 340265 [G/C] NM_203447,NM_001193536,NM_001190458 DOCK8,DOCK8,DOCK8 EXON Missense_H541Q,Missense_H473Q,Missense_H473Q exm2264359 9 344508 [A/C] NM_203447,NM_001193536,NM_001190458 DOCK8,DOCK8,DOCK8 Silent,Silent,Silent exm734752 9 368128 [T/C] NM_203447,NM_001193536,NM_001190458 DOCK8,DOCK8,DOCK8 EXON Missense_A597V,Missense_A529V,Missense_A529V exm734791 9 377046 [A/G] NM_203447,NM_001193536,NM_001190458 DOCK8,DOCK8,DOCK8 EXON Missense_V759M,Missense_V691M,Missense_V691M exm734807 9 379812 [A/G] NM_203447,NM_001193536,NM_001190458 DOCK8,DOCK8,DOCK8 EXON Missense_A828T,Missense_A760T,Missense_A760T exm734812 9 379884 [G/C] NM_203447,NM_001193536,NM_001190458 DOCK8,DOCK8,DOCK8 EXON Missense_V852L,Missense_V784L,Missense_V784L exm734829 9 382656 [A/G] NM_203447,NM_001193536,NM_001190458 DOCK8,DOCK8,DOCK8 EXON Missense_E917K,Missense_E849K,Missense_E849K exm734843 9 396836 [T/C] NM_203447,NM_001193536,NM_001190458 DOCK8,DOCK8,DOCK8 EXON Missense_R1008W,Missense_R940W,Missense_R908W exm734844 9 396837 [A/G] NM_203447,NM_001193536,NM_001190458 DOCK8,DOCK8,DOCK8 EXON Missense_R1008Q,Missense_R940Q,Missense_R908Q exm734846 9 396858 [A/G] NM_203447,NM_001193536,NM_001190458 DOCK8,DOCK8,DOCK8 EXON Missense_R1015H,Missense_R947H,Missense_R915H exm734847 9 396866 [A/G] NM_203447,NM_001193536,NM_001190458 DOCK8,DOCK8,DOCK8 EXON Missense_D1018N,Missense_D950N,Missense_D918N exm734848 9 396872 [A/G] NM_203447,NM_001193536,NM_001190458 DOCK8,DOCK8,DOCK8 EXON Missense_I1020V,Missense_I952V,Missense_I920V exm734856 9 399218 [T/C] NM_203447,NM_001193536,NM_001190458 DOCK8,DOCK8,DOCK8 EXON Missense_R1065W,Missense_R997W,Missense_R965W exm734862 9 399245 [A/C] NM_203447,NM_001193536,NM_001190458 DOCK8,DOCK8,DOCK8 EXON Missense_H1074N,Missense_H1006N,Missense_H974N exm734863 9 399255 [A/G] NM_203447,NM_001193536,NM_001190458 DOCK8,DOCK8,DOCK8 EXON Missense_S1077N,Missense_S1009N,Missense_S977N exm734870 9 404995 [C/G] NM_203447,NM_001193536,NM_001190458 DOCK8,DOCK8,DOCK8 EXON Missense_E1104D,Missense_E1036D,Missense_E1004D exm734881 9 406999 [T/C] NM_203447,NM_001193536,NM_001190458 DOCK8,DOCK8,DOCK8 EXON Missense_R1154C,Missense_R1086C,Missense_R1054C exm734889 9 414816 [A/G] NM_203447,NM_001193536,NM_001190458 DOCK8,DOCK8,DOCK8 EXON Missense_I1189V,Missense_I1121V,Missense_I1089V exm734900 9 418121 [C/G] NM_203447,NM_001193536,NM_001190458 DOCK8,DOCK8,DOCK8 EXON Missense_A1252P,Missense_A1184P,Missense_A1152P exm734907 9 418193 [T/G] NM_203447,NM_001193536,NM_001190458 DOCK8,DOCK8,DOCK8 EXON Missense_V1276L,Missense_V1208L,Missense_V1176L exm734916 9 420548 [C/G] NM_203447,NM_001193536,NM_001190458 DOCK8,DOCK8,DOCK8 EXON Missense_L1330V,Missense_L1262V,Missense_L1230V exm734918 9 420579 [A/G] NM_203447,NM_001193536,NM_001190458 DOCK8,DOCK8,DOCK8 EXON Missense_Y1340C,Missense_Y1272C,Missense_Y1240C exm734921 9 421012 [T/C] NM_203447,NM_001193536,NM_001190458 DOCK8,DOCK8,DOCK8 EXON Missense_R1363W,Missense_R1295W,Missense_R1263W exm2259368 9 422052 [T/C] NM_203447,NM_001193536,NM_001190458 DOCK8,DOCK8,DOCK8 EXON Synonymous_N1386N,Synonymous_N1318N,Synonymous_N1286N exm734944 9 432263 [A/G] NM_203447,NM_001193536,NM_001190458 DOCK8,DOCK8,DOCK8 EXON Missense_R1575K,Missense_R1507K,Missense_R1475K exm734946 9 432275 [G/C] NM_203447,NM_001193536,NM_001190458 DOCK8,DOCK8,DOCK8 EXON Missense_A1579G,Missense_A1511G,Missense_A1479G exm734947 9 432313 [T/C] NM_203447,NM_001193536,NM_001190458 DOCK8,DOCK8,DOCK8 EXON Missense_F1592L,Missense_F1524L,Missense_F1492L exm734962 9 439320 [A/G] NM_203447,NM_001193536,NM_001190458 DOCK8,DOCK8,DOCK8 EXON Missense_A1719T,Missense_A1651T,Missense_A1619T exm734977 9 441358 [T/C] NM_203447,NM_001193536,NM_001190458 DOCK8,DOCK8,DOCK8 EXON Missense_R1766W,Missense_R1698W,Missense_R1666W exm734986 9 443460 [A/G] NM_203447,NM_001193536,NM_001190458 DOCK8,DOCK8,DOCK8 EXON Missense_V1842M,Missense_V1774M,Missense_V1742M exm734989 9 446384 [C/G] NM_203447,NM_001193536,NM_001190458 DOCK8,DOCK8,DOCK8 EXON Missense_I1865M,Missense_I1797M,Missense_I1765M exm734991 9 446401 [A/G] NM_203447,NM_001193536,NM_001190458 DOCK8,DOCK8,DOCK8 EXON Missense_Y1871C,Missense_Y1803C,Missense_Y1771C exm734994 9 446460 [T/C] NM_203447,NM_001193536,NM_001190458 DOCK8,DOCK8,DOCK8 EXON Missense_R1891W,Missense_R1823W,Missense_R1791W exm734998 9 446500 [A/G] NM_203447,NM_001193536,NM_001190458 DOCK8,DOCK8,DOCK8 EXON Missense_R1904Q,Missense_R1836Q,Missense_R1804Q exm735006 9 449794 [T/C] NM_203447,NM_001193536,NM_001190458 DOCK8,DOCK8,DOCK8 EXON Missense_T1943I,Missense_T1875I,Missense_T1843I exm735010 9 449874 [C/G] NM_203447,NM_001193536,NM_001190458 DOCK8,DOCK8,DOCK8 EXON Missense_A1970P,Missense_A1902P,Missense_A1870P exm735022 9 452113 [A/G] NM_203447,NM_001193536,NM_001190458 DOCK8,DOCK8,DOCK8 EXON Missense_M2022V,Missense_M1954V,Missense_M1922V exm735029 9 463632 [A/G] NM_203447,NM_001193536,NM_001190458 DOCK8,DOCK8,DOCK8 EXON Missense_E2062K,Missense_E1994K,Missense_E1962K exm735033 9 463655 [A/C] NM_203447,NM_001193536,NM_001190458 DOCK8,DOCK8,DOCK8 EXON Nonsense_Y2069X,Nonsense_Y2001X,Nonsense_Y1969X exm-rs10975061 9 543631 [T/C] NM_001256876,NM_015158,NM_001256877 KANK1,KANK1,KANK1 Silent,Silent,Silent exm735042 9 676988 [A/G] NM_001256876,NM_015158,NM_001256877 KANK1,KANK1,KANK1 EXON Missense_K6E,Missense_K6E,Missense_K6E exm2264334 9 680540 [A/C] NM_001256876,NM_015158,NM_001256877 KANK1,KANK1,KANK1 Silent,Silent,Silent exm735046 9 710818 [A/G] NM_001256876,NM_015158,NM_001256877,NM_153186 KANK1,KANK1,KANK1,KANK1 EXON Missense_I18V,Missense_I18V,Missense_I18V,Silent exm735053 9 710915 [T/A] NM_001256876,NM_015158,NM_001256877,NM_153186 KANK1,KANK1,KANK1,KANK1 EXON Missense_D50V,Missense_D50V,Missense_D50V,Silent exm735057 9 710966 [A/G] NM_001256876,NM_015158,NM_001256877,NM_153186 KANK1,KANK1,KANK1,KANK1 EXON Missense_R67Q,Missense_R67Q,Missense_R67Q,Silent exm735058 9 710972 [T/C] NM_001256876,NM_015158,NM_001256877,NM_153186 KANK1,KANK1,KANK1,KANK1 EXON Missense_P69L,Missense_P69L,Missense_P69L,Silent exm735061 9 711021 [A/G] NM_001256876,NM_015158,NM_001256877,NM_153186 KANK1,KANK1,KANK1,KANK1 EXON Missense_I85M,Missense_I85M,Missense_I85M,Silent exm735063 9 711053 [A/G] NM_001256876,NM_015158,NM_001256877,NM_153186 KANK1,KANK1,KANK1,KANK1 EXON Missense_N96S,Missense_N96S,Missense_N96S,Silent exm735067 9 711112 [A/G] NM_001256876,NM_015158,NM_001256877,NM_153186 KANK1,KANK1,KANK1,KANK1 EXON Missense_T116A,Missense_T116A,Missense_T116A,Silent exm735072 9 711277 [A/G] NM_001256876,NM_015158,NM_001256877,NM_153186 KANK1,KANK1,KANK1,KANK1 EXON Missense_T171A,Missense_T171A,Missense_T171A,Missense_T13A exm735074 9 711292 [T/C] NM_001256876,NM_015158,NM_001256877,NM_153186 KANK1,KANK1,KANK1,KANK1 EXON Missense_P176S,Missense_P176S,Missense_P176S,Missense_P18S exm735081 9 711359 [T/C] NM_001256876,NM_015158,NM_001256877,NM_153186 KANK1,KANK1,KANK1,KANK1 EXON Missense_S198F,Missense_S198F,Missense_S198F,Missense_S40F exm735084 9 711396 [C/G] NM_001256876,NM_015158,NM_001256877,NM_153186 KANK1,KANK1,KANK1,KANK1 EXON Missense_H210Q,Missense_H210Q,Missense_H210Q,Missense_H52Q exm735085 9 711399 [C/G] NM_001256876,NM_015158,NM_001256877,NM_153186 KANK1,KANK1,KANK1,KANK1 EXON Missense_Q211H,Missense_Q211H,Missense_Q211H,Missense_Q53H exm735111 9 711869 [A/G] NM_001256876,NM_015158,NM_001256877,NM_153186 KANK1,KANK1,KANK1,KANK1 EXON Missense_R368Q,Missense_R368Q,Missense_R368Q,Missense_R210Q exm2197742 9 711962 [A/G] NM_001256876,NM_015158,NM_001256877,NM_153186 KANK1,KANK1,KANK1,KANK1 EXON Missense_R399Q,Missense_R399Q,Missense_R399Q,Missense_R241Q exm735117 9 711982 [A/G] NM_001256876,NM_015158,NM_001256877,NM_153186 KANK1,KANK1,KANK1,KANK1 EXON Missense_E406K,Missense_E406K,Missense_E406K,Missense_E248K exm735123 9 712026 [G/C] NM_001256876,NM_015158,NM_001256877,NM_153186 KANK1,KANK1,KANK1,KANK1 EXON Missense_R420S,Missense_R420S,Missense_R420S,Missense_R262S exm735131 9 712123 [A/G] NM_001256876,NM_015158,NM_001256877,NM_153186 KANK1,KANK1,KANK1,KANK1 EXON Missense_K453E,Missense_K453E,Missense_K453E,Missense_K295E exm735134 9 712156 [T/G] NM_001256876,NM_015158,NM_001256877,NM_153186 KANK1,KANK1,KANK1,KANK1 EXON Missense_S464A,Missense_S464A,Missense_S464A,Missense_S306A exm735142 9 712283 [T/C] NM_001256876,NM_015158,NM_001256877,NM_153186 KANK1,KANK1,KANK1,KANK1 EXON Missense_M506T,Missense_M506T,Missense_M506T,Missense_M348T exm735145 9 712324 [A/G] NM_001256876,NM_015158,NM_001256877,NM_153186 KANK1,KANK1,KANK1,KANK1 EXON Missense_V520M,Missense_V520M,Missense_V520M,Missense_V362M exm735146 9 712366 [A/G] NM_001256876,NM_015158,NM_001256877,NM_153186 KANK1,KANK1,KANK1,KANK1 EXON Missense_V534M,Missense_V534M,Missense_V534M,Missense_V376M exm735151 9 712390 [A/G] NM_001256876,NM_015158,NM_001256877,NM_153186 KANK1,KANK1,KANK1,KANK1 EXON Missense_V542M,Missense_V542M,Missense_V542M,Missense_V384M exm735153 9 712419 [C/G] NM_001256876,NM_015158,NM_001256877,NM_153186 KANK1,KANK1,KANK1,KANK1 EXON Missense_C551W,Missense_C551W,Missense_C551W,Missense_C393W exm735157 9 712498 [T/C] NM_001256876,NM_015158,NM_001256877,NM_153186 KANK1,KANK1,KANK1,KANK1 EXON Missense_H578Y,Missense_H578Y,Missense_H578Y,Missense_H420Y exm735159 9 712526 [A/G] NM_001256876,NM_015158,NM_001256877,NM_153186 KANK1,KANK1,KANK1,KANK1 EXON Missense_E587G,Missense_E587G,Missense_E587G,Missense_E429G exm735169 9 712567 [A/G] NM_001256876,NM_015158,NM_001256877,NM_153186 KANK1,KANK1,KANK1,KANK1 EXON Missense_E601K,Missense_E601K,Missense_E601K,Missense_E443K exm2248240 9 712681 [A/G] NM_001256876,NM_015158,NM_001256877,NM_153186 KANK1,KANK1,KANK1,KANK1 EXON Missense_V639I,Missense_V639I,Missense_V639I,Missense_V481I exm735177 9 712727 [A/C] NM_001256876,NM_015158,NM_001256877,NM_153186 KANK1,KANK1,KANK1,KANK1 EXON Missense_A654D,Missense_A654D,Missense_A654D,Missense_A496D exm735178 9 712754 [T/C] NM_001256876,NM_015158,NM_001256877,NM_153186 KANK1,KANK1,KANK1,KANK1 EXON Missense_M663T,Missense_M663T,Missense_M663T,Missense_M505T exm735179 9 712757 [T/C] NM_001256876,NM_015158,NM_001256877,NM_153186 KANK1,KANK1,KANK1,KANK1 EXON Missense_A664V,Missense_A664V,Missense_A664V,Missense_A506V exm735180 9 712766 [A/G] NM_001256876,NM_015158,NM_001256877,NM_153186 KANK1,KANK1,KANK1,KANK1 EXON Missense_R667H,Missense_R667H,Missense_R667H,Missense_R509H exm735182 9 712784 [G/C] NM_001256876,NM_015158,NM_001256877,NM_153186 KANK1,KANK1,KANK1,KANK1 EXON Missense_T673S,Missense_T673S,Missense_T673S,Missense_T515S exm735186 9 712829 [T/C] NM_001256876,NM_015158,NM_001256877,NM_153186 KANK1,KANK1,KANK1,KANK1 EXON Missense_T688M,Missense_T688M,Missense_T688M,Missense_T530M exm735187 9 712856 [A/G] NM_001256876,NM_015158,NM_001256877,NM_153186 KANK1,KANK1,KANK1,KANK1 EXON Missense_N697S,Missense_N697S,Missense_N697S,Missense_N539S exm735198 9 713108 [C/G] NM_001256876,NM_015158,NM_001256877,NM_153186 KANK1,KANK1,KANK1,KANK1 EXON Missense_C781S,Missense_C781S,Missense_C781S,Missense_C623S exm735201 9 713237 [A/G] NM_001256876,NM_015158,NM_001256877,NM_153186 KANK1,KANK1,KANK1,KANK1 EXON Missense_D824G,Missense_D824G,Missense_D824G,Missense_D666G exm735202 9 713252 [A/G] NM_001256876,NM_015158,NM_001256877,NM_153186 KANK1,KANK1,KANK1,KANK1 EXON Missense_R829H,Missense_R829H,Missense_R829H,Missense_R671H exm735203 9 713262 [C/G] NM_001256876,NM_015158,NM_001256877,NM_153186 KANK1,KANK1,KANK1,KANK1 EXON Missense_K832N,Missense_K832N,Missense_K832N,Missense_K674N exm735218 9 713383 [A/G] NM_001256876,NM_015158,NM_001256877,NM_153186 KANK1,KANK1,KANK1,KANK1 EXON Missense_I873V,Missense_I873V,Missense_I873V,Missense_I715V exm735224 9 730054 [A/G] NM_001256876,NM_015158,NM_001256877,NM_153186 KANK1,KANK1,KANK1,KANK1 EXON Missense_N901S,Missense_N901S,Missense_N901S,Missense_N743S exm735225 9 730077 [T/G] NM_001256876,NM_015158,NM_001256877,NM_153186 KANK1,KANK1,KANK1,KANK1 EXON Missense_C909G,Missense_C909G,Missense_C909G,Missense_C751G exm735232 9 730177 [A/C] NM_001256876,NM_015158,NM_001256877,NM_153186 KANK1,KANK1,KANK1,KANK1 EXON Missense_A942D,Missense_A942D,Missense_A942D,Missense_A784D exm735238 9 730233 [A/G] NM_001256876,NM_015158,NM_001256877,NM_153186 KANK1,KANK1,KANK1,KANK1 EXON Missense_A961T,Missense_A961T,Missense_A961T,Missense_A803T exm735245 9 731229 [A/G] NM_001256876,NM_015158,NM_001256877,NM_153186 KANK1,KANK1,KANK1,KANK1 EXON Missense_A990T,Missense_A990T,Missense_A990T,Missense_A832T exm735258 9 732502 [T/C] NM_001256876,NM_015158,NM_001256877,NM_153186 KANK1,KANK1,KANK1,KANK1 EXON Missense_R1044W,Missense_R1044W,Missense_R1044W,Missense_R886W exm735259 9 732536 [T/C] NM_001256876,NM_015158,NM_001256877,NM_153186 KANK1,KANK1,KANK1,KANK1 EXON Missense_I1055T,Missense_I1055T,Missense_I1055T,Missense_I897T exm735263 9 732589 [G/C] NM_001256876,NM_015158,NM_001256877,NM_153186 KANK1,KANK1,KANK1,KANK1 EXON Missense_E1073Q,Missense_E1073Q,Missense_E1073Q,Missense_E915Q exm735264 9 732617 [A/G] NM_001256876,NM_015158,NM_001256877,NM_153186 KANK1,KANK1,KANK1,KANK1 EXON Missense_R1082K,Missense_R1082K,Missense_R1082K,Missense_R924K exm735289 9 738405 [T/C] NM_001256876,NM_015158,NM_001256877,NM_153186 KANK1,KANK1,KANK1,KANK1 EXON Missense_R1152C,Missense_R1152C,Missense_R1152C,Missense_R994C exm735308 9 740885 [T/C] NM_001256876,NM_015158,NM_001256877,NM_153186 KANK1,KANK1,KANK1,KANK1 EXON Missense_I1216T,Missense_I1216T,Missense_I1216T,Missense_I1058T exm735313 9 742206 [T/C] NM_001256876,NM_015158,NM_001256877,NM_153186 KANK1,KANK1,KANK1,KANK1 EXON Missense_A1233V,Missense_A1233V,Missense_A1233V,Missense_A1075V exm735315 9 742230 [T/C] NM_001256876,NM_015158,NM_001256877,NM_153186 KANK1,KANK1,KANK1,KANK1 EXON Missense_A1241V,Missense_A1241V,Missense_A1241V,Missense_A1083V exm735329 9 742350 [A/G] NM_001256876,NM_015158,NM_001256877,NM_153186 KANK1,KANK1,KANK1,KANK1 EXON Missense_E1281G,Missense_E1281G,Missense_E1281G,Missense_E1123G exm735333 9 742375 [C/G] NM_001256876,NM_015158,NM_001256877,NM_153186 KANK1,KANK1,KANK1,KANK1 EXON Missense_Q1289H,Missense_Q1289H,Missense_Q1289H,Missense_Q1131H exm735336 9 742386 [A/G] NM_001256876,NM_015158,NM_001256877,NM_153186 KANK1,KANK1,KANK1,KANK1 EXON Missense_N1293S,Missense_N1293S,Missense_N1293S,Missense_N1135S exm735338 9 742388 [A/G] NM_001256876,NM_015158,NM_001256877,NM_153186 KANK1,KANK1,KANK1,KANK1 EXON Missense_G1294S,Missense_G1294S,Missense_G1294S,Missense_G1136S exm735351 9 744588 [T/C] NM_001256876,NM_015158,NM_001256877,NM_153186 KANK1,KANK1,KANK1,KANK1 EXON Missense_P1332L,Missense_P1332L,Missense_P1332L,Missense_P1174L exm735361 9 745219 [A/G] NM_001256876,NM_015158,NM_001256877,NM_153186 KANK1,KANK1,KANK1,KANK1 EXON Missense_R1348Q,Missense_R1348Q,Missense_R1348Q,Missense_R1190Q exm735369 9 841866 [T/C] NM_021951 DMRT1 EXON Missense_P10S exm2248314 9 842090 [T/C] NM_021951 DMRT1 EXON Synonymous_Y84Y exm735384 9 842146 [A/G] NM_021951 DMRT1 EXON Missense_K103R exm-rs7040024 9 845516 [A/C] NM_021951 DMRT1 Silent exm-rs755383 9 863635 [T/C] NM_021951 DMRT1 Silent exm735405 9 894044 [A/G] NM_021951 DMRT1 EXON Missense_N224S exm735420 9 916846 [G/C] NM_021951 DMRT1 EXON Missense_Q302H exm735423 9 916876 [T/G] NM_021951 DMRT1 EXON Missense_D312E exm735431 9 968008 [G/C] NM_021951 DMRT1 EXON Missense_D331H exm735432 9 968044 [A/G] NM_021951 DMRT1 EXON Missense_I343V exm735434 9 968054 [A/G] NM_021951 DMRT1 EXON Missense_K346R exm735443 9 977054 [A/C] NM_021240 DMRT3 EXON Missense_P18Q exm735467 9 990076 [A/G] NM_021240 DMRT3 EXON Missense_A164T exm735468 9 990085 [A/G] NM_021240 DMRT3 EXON Missense_T167A exm735469 9 990098 [A/G] NM_021240 DMRT3 EXON Missense_S171N exm735476 9 990235 [T/C] NM_021240 DMRT3 EXON Missense_R217C exm735481 9 990335 [T/C] NM_021240 DMRT3 EXON Missense_P250L exm2201605 9 990401 [A/C] NM_021240 DMRT3 EXON Missense_K272T exm735485 9 990412 [A/G] NM_021240 DMRT3 EXON Missense_G276R exm735494 9 990520 [T/C] NM_021240 DMRT3 EXON Missense_H312Y exm735503 9 990626 [C/G] NM_021240 DMRT3 EXON Missense_S347T exm735505 9 990638 [T/C] NM_021240 DMRT3 EXON Missense_P351L exm735506 9 990653 [T/G] NM_021240 DMRT3 EXON Missense_G356V exm735511 9 990726 [T/G] NM_021240 DMRT3 EXON Missense_Q380H exm735524 9 990856 [A/G] NM_021240 DMRT3 EXON Missense_V424I exm735525 9 990868 [T/C] NM_021240 DMRT3 EXON Missense_R428C exm735533 9 990973 [T/C] NM_021240 DMRT3 EXON Missense_S463P exm735543 9 1051758 [G/C] NM_006557,NM_001130865,NM_181872 DMRT2,DMRT2,DMRT2 EXON Missense_D49H,Missense_D49H,Missense_D49H exm735567 9 1056234 [T/C] NM_006557,NM_001130865,NM_181872 DMRT2,DMRT2,DMRT2 EXON Silent,Silent,Missense_A216V exm735576 9 1056319 [G/C] NM_006557,NM_001130865,NM_181872 DMRT2,DMRT2,DMRT2 EXON Silent,Silent,Missense_E244D exm735582 9 1056398 [C/G] NM_006557,NM_001130865,NM_181872 DMRT2,DMRT2,DMRT2 EXON Silent,Silent,Missense_P271A exm735583 9 1056402 [A/G] NM_006557,NM_001130865,NM_181872 DMRT2,DMRT2,DMRT2 EXON Silent,Silent,Missense_N272S exm2179620 9 1056424 [A/C] NM_006557,NM_001130865,NM_181872 DMRT2,DMRT2,DMRT2 EXON Silent,Silent,Missense_D279E exm735594 9 1056569 [A/G] NM_006557,NM_001130865,NM_181872 DMRT2,DMRT2,DMRT2 EXON Silent,Silent,Missense_V328M exm735598 9 1056590 [T/A] NM_006557,NM_001130865,NM_181872 DMRT2,DMRT2,DMRT2 EXON Silent,Silent,Missense_Y335N exm735599 9 1056635 [A/G] NM_006557,NM_001130865,NM_181872 DMRT2,DMRT2,DMRT2 EXON Silent,Silent,Missense_I350V exm735603 9 1056728 [C/G] NM_006557,NM_001130865,NM_181872 DMRT2,DMRT2,DMRT2 EXON Silent,Silent,Missense_A381P exm735604 9 1056732 [A/G] NM_006557,NM_001130865,NM_181872 DMRT2,DMRT2,DMRT2 EXON Silent,Silent,Missense_R382Q exm735605 9 1056774 [T/C] NM_006557,NM_001130865,NM_181872 DMRT2,DMRT2,DMRT2 EXON Silent,Silent,Missense_S396L exm735608 9 1056803 [A/C] NM_006557,NM_001130865,NM_181872 DMRT2,DMRT2,DMRT2 EXON Silent,Silent,Missense_H406N exm735611 9 1056825 [T/C] NM_006557,NM_001130865,NM_181872 DMRT2,DMRT2,DMRT2 EXON Silent,Silent,Missense_T413M exm735612 9 1056852 [T/C] NM_006557,NM_001130865,NM_181872 DMRT2,DMRT2,DMRT2 EXON Silent,Silent,Missense_A422V exm735616 9 1056870 [T/C] NM_006557,NM_001130865,NM_181872 DMRT2,DMRT2,DMRT2 EXON Silent,Silent,Missense_A428V exm2179624 9 1056887 [C/G] NM_006557,NM_001130865,NM_181872 DMRT2,DMRT2,DMRT2 EXON Silent,Silent,Missense_R434G exm735622 9 1056959 [G/C] NM_006557,NM_001130865,NM_181872 DMRT2,DMRT2,DMRT2 EXON Silent,Silent,Missense_E458Q exm2247316 9 1056975 [G/C] NM_006557,NM_001130865,NM_181872 DMRT2,DMRT2,DMRT2 EXON Silent,Silent,Missense_P463R exm735631 9 1057116 [A/G] NM_006557,NM_001130865,NM_181872 DMRT2,DMRT2,DMRT2 EXON Silent,Silent,Missense_D510G exm2247317 9 1057256 [A/G] NM_006557,NM_001130865,NM_181872 DMRT2,DMRT2,DMRT2 EXON Silent,Silent,Missense_T557A exm2259063 9 1062999 [A/G] exm-rs16927557 9 1325179 [A/G] exm2266885 9 1463618 [A/G] exm2266783 9 1519043 [A/G] exm2266886 9 1928115 [A/G] exm735650 9 2029119 [T/C] NM_139045,NM_003070 SMARCA2,SMARCA2 EXON Missense_P33S,Missense_P33S exm2259278 9 2029196 [A/G] NM_139045,NM_003070 SMARCA2,SMARCA2 EXON Synonymous_P58P,Synonymous_P58P exm735665 9 2039592 [T/C] NM_139045,NM_003070 SMARCA2,SMARCA2 EXON Missense_P161L,Missense_P161L exm2193123 9 2039860 [A/G] NM_139045,NM_003070 SMARCA2,SMARCA2 EXON Synonymous_Q250Q,Synonymous_Q250Q exm2259280 9 2054672 [G/C] NM_139045,NM_003070 SMARCA2,SMARCA2 EXON Synonymous_T374T,Synonymous_T374T exm735715 9 2054672 [G/C] NM_139045,NM_003070 SMARCA2,SMARCA2 EXON Synonymous_T374T,Synonymous_T374T exm735722 9 2056846 [A/G] NM_139045,NM_003070 SMARCA2,SMARCA2 Silent,Silent exm735818 9 2170426 [A/G] NM_139045,NM_003070 SMARCA2,SMARCA2 EXON Silent,Missense_V1403M exm2247996 9 2170466 [G/C] NM_139045,NM_003070 SMARCA2,SMARCA2 EXON Silent,Missense_G1416A exm735845 9 2191316 [T/C] NM_139045,NM_003070 SMARCA2,SMARCA2 EXON Missense_R1531W,Missense_R1549W exm735846 9 2191317 [A/G] NM_139045,NM_003070 SMARCA2,SMARCA2 EXON Missense_R1531Q,Missense_R1549Q exm735848 9 2191370 [C/G] NM_139045,NM_003070 SMARCA2,SMARCA2 EXON Missense_V1549L,Missense_V1567L exm735849 9 2191388 [A/G] NM_139045,NM_003070 SMARCA2,SMARCA2 EXON Missense_D1555N,Missense_D1573N exm2193573 9 2191407 [A/G] NM_139045,NM_003070 SMARCA2,SMARCA2 EXON Missense_R1561H,Missense_R1579H exm2259287 9 2196734 [T/C] exm735862 9 2635545 [A/G] NM_003383,NM_001018056 VLDLR,VLDLR EXON Missense_V59I,Missense_V59I exm735866 9 2639898 [A/G] NM_003383,NM_001018056 VLDLR,VLDLR EXON Missense_N81S,Missense_N81S exm735869 9 2639948 [A/G] NM_003383,NM_001018056 VLDLR,VLDLR EXON Missense_E98K,Missense_E98K exm-rs3780181 9 2640759 [A/G] NM_003383,NM_001018056 VLDLR,VLDLR Silent,Silent exm735875 9 2643175 [C/G] NM_003383,NM_001018056 VLDLR,VLDLR EXON Missense_S155T,Missense_S155T exm735878 9 2643183 [A/G] NM_003383,NM_001018056 VLDLR,VLDLR EXON Missense_E158K,Missense_E158K exm735887 9 2643443 [C/G] NM_003383,NM_001018056 VLDLR,VLDLR EXON Missense_I244M,Missense_I244M exm735894 9 2643643 [A/G] NM_003383,NM_001018056 VLDLR,VLDLR EXON Missense_R279Q,Missense_R279Q exm735897 9 2643709 [A/G] NM_003383,NM_001018056 VLDLR,VLDLR EXON Missense_R301Q,Missense_R301Q exm735906 9 2643875 [A/G] NM_003383,NM_001018056 VLDLR,VLDLR EXON Missense_S328G,Missense_S328G exm2193672 9 2643934 [G/C] NM_003383,NM_001018056 VLDLR,VLDLR EXON Missense_W347C,Missense_W347C exm735912 9 2644799 [T/C] NM_003383,NM_001018056 VLDLR,VLDLR EXON Missense_Y378H,Missense_Y378H exm735915 9 2644829 [T/C] NM_003383,NM_001018056 VLDLR,VLDLR EXON Synonymous_L388L,Synonymous_L388L exm2259300 9 2644829 [T/C] NM_003383,NM_001018056 VLDLR,VLDLR EXON Synonymous_L388L,Synonymous_L388L exm735919 9 2645016 [A/G] NM_003383,NM_001018056 VLDLR,VLDLR EXON Missense_G416S,Missense_G416S exm735924 9 2645577 [T/A] NM_003383,NM_001018056 VLDLR,VLDLR EXON Missense_K439I,Missense_K439I exm735931 9 2645713 [A/C] NM_003383,NM_001018056 VLDLR,VLDLR EXON Missense_F484L,Missense_F484L exm735938 9 2646381 [A/G] NM_003383,NM_001018056 VLDLR,VLDLR EXON Missense_N511S,Missense_N511S exm735943 9 2646492 [A/G] NM_003383,NM_001018056 VLDLR,VLDLR EXON Missense_K548R,Missense_K548R exm735957 9 2648223 [A/G] NM_003383,NM_001018056 VLDLR,VLDLR EXON Missense_R613H,Missense_R613H exm735960 9 2648286 [A/G] NM_003383,NM_001018056 VLDLR,VLDLR EXON Missense_R634H,Missense_R634H exm735962 9 2648333 [G/C] NM_003383,NM_001018056 VLDLR,VLDLR EXON Missense_L650V,Missense_L650V exm2274341 9 2651433 [T/C] NM_003383,NM_001018056 VLDLR,VLDLR EXON Missense_T757I,Silent exm735982 9 2651454 [T/C] NM_003383,NM_001018056 VLDLR,VLDLR EXON Missense_T764M,Silent exm735987 9 2651909 [A/G] NM_003383,NM_001018056 VLDLR,VLDLR EXON Missense_V791I,Missense_V763I exm-rs10738760 9 2691186 [A/G] exm-rs10967598 9 2700883 [A/C] exm736008 9 2717755 [C/G] NM_133497 KCNV2 EXON Missense_E6Q exm736010 9 2717797 [A/G] NM_133497 KCNV2 EXON Missense_E20K exm2193858 9 2717819 [A/G] NM_133497 KCNV2 EXON Missense_R27H exm736016 9 2717860 [A/G] NM_133497 KCNV2 EXON Missense_A41T exm736032 9 2718019 [A/G] NM_133497 KCNV2 EXON Missense_A94T exm736037 9 2718065 [A/G] NM_133497 KCNV2 EXON Missense_Q109R exm736041 9 2718088 [A/G] NM_133497 KCNV2 EXON Missense_G117S exm736046 9 2718130 [A/G] NM_133497 KCNV2 EXON Missense_S131G exm736049 9 2718180 [A/C] NM_133497 KCNV2 EXON Missense_D147E exm736058 9 2718349 [A/G] NM_133497 KCNV2 EXON Missense_E204K exm736064 9 2718415 [A/G] NM_133497 KCNV2 EXON Missense_V226I exm736083 9 2718572 [T/C] NM_133497 KCNV2 EXON Missense_A278V exm2193879 9 2718659 [T/G] NM_133497 KCNV2 EXON Missense_M307R exm2193884 9 2718802 [T/C] NM_133497 KCNV2 EXON Missense_F355L exm736106 9 2718857 [G/C] NM_133497 KCNV2 EXON Missense_G373A exm736111 9 2718887 [T/G] NM_133497 KCNV2 EXON Missense_R383L exm736114 9 2718905 [A/C] NM_133497 KCNV2 EXON Missense_K389T exm2193896 9 2719083 [G/C] NM_133497 KCNV2 EXON Missense_W448C exm736125 9 2719094 [T/C] NM_133497 KCNV2 EXON Missense_A452V exm736127 9 2729470 [A/G] NM_133497 KCNV2 EXON Missense_G461R exm736131 9 2729516 [T/G] NM_133497 KCNV2 EXON Missense_L476R exm2193955 9 2729602 [T/G] NM_133497 KCNV2 EXON Missense_A505S exm736137 9 2729686 [G/C] NM_133497 KCNV2 EXON Missense_L533V exm736138 9 2729696 [A/G] NM_133497 KCNV2 EXON Missense_N536S exm736139 9 2729705 [T/C] NM_133497 KCNV2 EXON Missense_L539P exm2271042 9 2790307 [T/C] exm736146 9 2804404 [A/G] NM_014878 KIAA0020 EXON Missense_L625S exm736155 9 2807875 [T/C] NM_014878 KIAA0020 EXON Missense_V585I exm736167 9 2811377 [A/C] NM_014878 KIAA0020 EXON Missense_G540V exm736170 9 2811418 [T/C] NM_014878 KIAA0020 EXON Missense_M526I exm736171 9 2811440 [A/G] NM_014878 KIAA0020 EXON Missense_T519I exm736173 9 2811476 [T/G] NM_014878 KIAA0020 EXON Missense_A507E exm736179 9 2811536 [G/C] NM_014878 KIAA0020 EXON Missense_S487C exm2248014 9 2811557 [T/C] NM_014878 KIAA0020 EXON Missense_R480Q exm736186 9 2812265 [T/C] NM_014878 KIAA0020 EXON Missense_R456Q exm736190 9 2812282 [T/A] NM_014878 KIAA0020 EXON Missense_D450E exm736195 9 2812337 [A/G] NM_014878 KIAA0020 EXON Missense_I432T exm736197 9 2820046 [G/C] NM_014878 KIAA0020 EXON Missense_T414S exm736199 9 2820091 [T/C] NM_014878 KIAA0020 EXON Missense_Y399C exm736209 9 2824796 [T/C] NM_014878 KIAA0020 EXON Missense_R352H exm2194070 9 2827074 [A/G] NM_014878 KIAA0020 EXON Missense_S345L exm736213 9 2828726 [T/A] NM_014878 KIAA0020 EXON Nonsense_L302X exm736216 9 2828742 [A/C] NM_014878 KIAA0020 EXON Missense_V297L exm2248015 9 2828745 [G/C] NM_014878 KIAA0020 EXON Missense_E296Q exm736218 9 2828765 [C/G] NM_014878 KIAA0020 EXON Missense_R289P exm736219 9 2828767 [G/C] NM_014878 KIAA0020 EXON Missense_H288Q exm736220 9 2829790 [A/G] NM_014878 KIAA0020 EXON Missense_T279I exm736221 9 2829799 [T/C] NM_014878 KIAA0020 EXON Missense_Y276C exm736224 9 2829836 [T/C] NM_014878 KIAA0020 EXON Missense_I264V exm2194080 9 2831013 [A/C] NM_014878 KIAA0020 EXON Nonsense_L209X exm2248016 9 2831016 [T/C] NM_014878 KIAA0020 EXON Missense_E208G exm736241 9 2831281 [G/C] NM_014878 KIAA0020 EXON Missense_Q194E exm736252 9 2834101 [T/C] NM_014878 KIAA0020 EXON Missense_R124G exm736253 9 2834107 [C/G] NM_014878 KIAA0020 EXON Missense_Q122E exm736256 9 2837192 [A/C] NM_014878 KIAA0020 EXON Missense_G98C exm736258 9 2837218 [T/C] NM_014878 KIAA0020 EXON Missense_N89S exm736259 9 2837233 [A/G] NM_014878 KIAA0020 EXON Missense_P84L exm736260 9 2837294 [T/C] NM_014878 KIAA0020 EXON Missense_G64S exm736271 9 2838470 [T/C] NM_014878 KIAA0020 EXON Missense_S13N exm2262633 9 2913620 [A/G] exm2271043 9 2951475 [T/G] exm736293 9 3225104 [T/C] NM_134428 RFX3 EXON Missense_V730I exm736309 9 3247940 [A/G] NM_134428,NM_002919 RFX3,RFX3 EXON Silent,Missense_M687T exm736341 9 3271018 [A/G] NM_134428,NM_002919 RFX3,RFX3 EXON Missense_T396I,Missense_T396I exm736355 9 3288175 [G/C] NM_134428,NM_002919 RFX3,RFX3 EXON Missense_M269I,Missense_M269I exm736360 9 3293246 [A/C] NM_134428,NM_002919 RFX3,RFX3 EXON Missense_L188V,Missense_L188V exm2271162 9 3446277 [T/G] NM_134428,NM_002919 RFX3,RFX3 Silent,Silent exm2271044 9 3651396 [T/G] exm2196486 9 3828319 [C/G] NM_152629,NM_001042413 GLIS3,GLIS3 EXON Missense_V761L,Missense_V916L exm736388 9 3828355 [T/C] NM_152629,NM_001042413 GLIS3,GLIS3 EXON Missense_G749R,Missense_G904R exm736393 9 3828379 [A/G] NM_152629,NM_001042413 GLIS3,GLIS3 EXON Missense_L741F,Missense_L896F exm2248162 9 3828387 [A/G] NM_152629,NM_001042413 GLIS3,GLIS3 EXON Missense_S738F,Missense_S893F exm736394 9 3829321 [A/G] NM_152629,NM_001042413 GLIS3,GLIS3 EXON Missense_S727L,Missense_S882L exm736405 9 3829492 [C/G] NM_152629,NM_001042413 GLIS3,GLIS3 EXON Missense_G670A,Missense_G825A exm2196531 9 3856011 [T/C] NM_152629,NM_001042413 GLIS3,GLIS3 EXON Missense_H669R,Missense_H824R exm2248168 9 3856047 [C/G] NM_152629,NM_001042413 GLIS3,GLIS3 EXON Missense_T657R,Missense_T812R exm736409 9 3856059 [T/C] NM_152629,NM_001042413 GLIS3,GLIS3 EXON Missense_Y653C,Missense_Y808C exm736413 9 3856143 [T/C] NM_152629,NM_001042413 GLIS3,GLIS3 EXON Missense_R625Q,Missense_R780Q exm736423 9 3879585 [T/G] NM_152629,NM_001042413 GLIS3,GLIS3 EXON Missense_F558L,Missense_F713L exm736426 9 3898723 [T/C] NM_152629,NM_001042413,NR_026663 GLIS3,GLIS3,GLIS3-AS1 EXON Missense_R544H,Missense_R699H,Silent exm736427 9 3898724 [A/G] NM_152629,NM_001042413,NR_026663 GLIS3,GLIS3,GLIS3-AS1 EXON Missense_R544C,Missense_R699C,Silent exm736428 9 3898730 [T/C] NM_152629,NM_001042413,NR_026663 GLIS3,GLIS3,GLIS3-AS1 EXON Missense_V542M,Missense_V697M,Silent exm736431 9 3898792 [A/C] NM_152629,NM_001042413,NR_026663 GLIS3,GLIS3,GLIS3-AS1 EXON Missense_C521F,Missense_C676F,Silent exm736439 9 3937028 [A/G] NM_152629,NM_001042413 GLIS3,GLIS3 EXON Synonymous_T469T,Synonymous_T624T exm2248176 9 3937093 [C/G] NM_152629,NM_001042413 GLIS3,GLIS3 EXON Missense_G448R,Missense_G603R exm2196677 9 4117769 [A/G] NM_152629,NM_001042413 GLIS3,GLIS3 EXON Missense_T415M,Missense_T570M exm736454 9 4117887 [T/C] NM_152629,NM_001042413 GLIS3,GLIS3 EXON Missense_G376R,Missense_G531R exm736457 9 4117917 [T/C] NM_152629,NM_001042413 GLIS3,GLIS3 EXON Missense_I366V,Missense_I521V exm736458 9 4117933 [G/C] NM_152629,NM_001042413 GLIS3,GLIS3 EXON Missense_E360D,Missense_E515D exm736460 9 4117942 [T/G] NM_152629,NM_001042413 GLIS3,GLIS3 EXON Missense_D357E,Missense_D512E exm736470 9 4118048 [A/G] NM_152629,NM_001042413 GLIS3,GLIS3 EXON Missense_A322V,Missense_A477V exm736478 9 4118160 [T/C] NM_152629,NM_001042413 GLIS3,GLIS3 EXON Missense_T285A,Missense_T440A exm736484 9 4118262 [A/C] NM_152629,NM_001042413 GLIS3,GLIS3 EXON Missense_G251C,Missense_G406C exm2259363 9 4118434 [A/G] NM_152629,NM_001042413 GLIS3,GLIS3 EXON Synonymous_Y193Y,Synonymous_Y348Y exm736502 9 4118540 [C/G] NM_152629,NM_001042413 GLIS3,GLIS3 EXON Missense_G158A,Missense_G313A exm736504 9 4118585 [T/G] NM_152629,NM_001042413 GLIS3,GLIS3 EXON Missense_S143Y,Missense_S298Y exm736508 9 4118634 [G/C] NM_152629,NM_001042413 GLIS3,GLIS3 EXON Missense_P127A,Missense_P282A exm736513 9 4118685 [A/C] NM_152629,NM_001042413 GLIS3,GLIS3 EXON Missense_V110F,Missense_V265F exm736524 9 4118757 [T/C] NM_152629,NM_001042413 GLIS3,GLIS3 EXON Missense_G86S,Missense_G241S exm736537 9 4125834 [G/C] NM_152629,NM_001042413 GLIS3,GLIS3 EXON Missense_P11A,Missense_P166A exm736540 9 4125858 [A/C] NM_152629,NM_001042413 GLIS3,GLIS3 EXON Missense_V3F,Missense_V158F exm736543 9 4125908 [A/G] NM_152629,NM_001042413 GLIS3,GLIS3 EXON Silent,Missense_I141T exm2271045 9 4172815 [T/C] NM_001042413 GLIS3 Silent exm2271163 9 4242464 [T/C] NM_001042413 GLIS3 Silent exm736552 9 4286139 [A/G] NM_001042413 GLIS3 EXON Missense_P96L exm736561 9 4286194 [C/G] NM_001042413 GLIS3 EXON Missense_R78G exm736568 9 4286320 [T/C] NM_001042413 GLIS3 EXON Missense_G36R exm2248187 9 4286328 [T/G] NM_001042413 GLIS3 EXON Missense_A33D exm736571 9 4286337 [A/G] NM_001042413 GLIS3 EXON Missense_A30V exm736572 9 4286344 [T/C] NM_001042413 GLIS3 EXON Missense_I28V exm736573 9 4286365 [T/C] NM_001042413 GLIS3 EXON Missense_R21G exm736574 9 4286392 [A/G] NM_001042413 GLIS3 EXON Missense_R12W exm-rs7034200 9 4289050 [A/C] NM_001042413 GLIS3 Silent exm-rs10758593 9 4292083 [A/G] NM_001042413 GLIS3 Silent exm736582 9 4490715 [C/G] NM_004170 SLC1A1 EXON Missense_K12N exm736588 9 4544624 [A/T] NM_004170 SLC1A1 EXON Missense_F50Y exm736591 9 4544657 [A/G] NM_004170 SLC1A1 EXON Missense_R61Q exm736603 9 4561527 [T/C] NM_004170 SLC1A1 EXON Missense_I104T exm736609 9 4564428 [A/G] NM_004170 SLC1A1 EXON Missense_S137N exm736640 9 4576045 [T/C] NM_004170 SLC1A1 EXON Missense_I307T exm736645 9 4576651 [A/G] NM_004170 SLC1A1 EXON Missense_V361I exm-rs301430 9 4576680 [T/C] NM_004170 SLC1A1 EXON Synonymous_T370T exm2196856 9 4583132 [A/G] NM_004170 SLC1A1 EXON Missense_A430T exm736664 9 4585394 [G/C] NM_004170 SLC1A1 EXON Missense_E471Q exm736665 9 4585425 [A/T] NM_004170 SLC1A1 EXON Missense_I481N exm736693 9 4605429 [C/G] NM_001039395 SPATA6L EXON Missense_G278A exm736705 9 4617960 [A/T] NM_001039395 SPATA6L EXON Missense_S262T exm736707 9 4617990 [T/C] NM_001039395 SPATA6L EXON Missense_A252T exm736709 9 4617999 [C/G] NM_001039395 SPATA6L EXON Missense_H249D exm736710 9 4618014 [T/C] NM_001039395 SPATA6L EXON Missense_G244R exm736711 9 4618046 [T/C] NM_001039395 SPATA6L EXON Missense_S233N exm736714 9 4618089 [A/G] NM_001039395 SPATA6L EXON Missense_R219W exm2275235 9 4622408 [T/C] NM_001039395 SPATA6L EXON Missense_A200T exm736725 9 4622453 [T/C] NM_001039395 SPATA6L EXON Missense_R185G exm736726 9 4622472 [A/C] NM_001039395 SPATA6L EXON Missense_E178D exm736731 9 4625359 [T/C] NM_001039395 SPATA6L EXON Missense_G155R exm736732 9 4625415 [T/C] NM_001039395 SPATA6L EXON Missense_H136R exm736734 9 4625433 [C/G] NM_001039395 SPATA6L EXON Missense_S130C exm736738 9 4625480 [A/C] NM_001039395 SPATA6L EXON Missense_E114D exm736740 9 4625518 [T/C] NM_001039395 SPATA6L EXON Missense_I102V exm2248194 9 4661958 [T/C] NM_001039395 SPATA6L EXON Missense_T40A exm736778 9 4661976 [A/T] NM_001039395 SPATA6L EXON Missense_M34L exm736784 9 4662016 [G/C] NM_001039395 SPATA6L EXON Missense_F20L exm736814 9 4662929 [T/G] NM_001039395,NM_203453 SPATA6L,PPAPDC2 EXON Silent,Missense_G185V exm736823 9 4663124 [C/G] NM_001039395,NM_203453 SPATA6L,PPAPDC2 EXON Silent,Missense_R250T exm736826 9 4663165 [A/G] NM_001039395,NM_203453 SPATA6L,PPAPDC2 EXON Silent,Missense_G264S exm736829 9 4663252 [A/C] NM_001039395,NM_203453 SPATA6L,PPAPDC2 EXON Silent,Missense_S293R exm736840 9 4679838 [A/G] NM_017913 CDC37L1 EXON Missense_S24N exm736841 9 4679846 [G/C] NM_017913 CDC37L1 EXON Missense_D27H exm736845 9 4679871 [A/G] NM_017913 CDC37L1 EXON Missense_C35Y exm736851 9 4684944 [C/G] NM_017913 CDC37L1 EXON Missense_C67S exm736855 9 4685070 [A/T] NM_017913 CDC37L1 EXON Missense_E109V exm736856 9 4685090 [T/G] NM_017913 CDC37L1 EXON Missense_A116S exm2248196 9 4697180 [T/C] NM_017913 CDC37L1 EXON Missense_I198T exm736878 9 4706079 [A/T] NM_017913 CDC37L1 EXON Missense_E327D exm2196922 9 4713058 [A/G] NM_001199852,NM_001199856,NM_001199855,NM_001199853,NM_016282 AK3,AK3,AK3,AK3,AK3 EXON Missense_T161I,Missense_T131I,Missense_T131I,Missense_T131I,Missense_T201I exm736892 9 4718417 [A/G] NM_001199852,NM_001199856,NM_001199855,NM_001199853,NM_016282 AK3,AK3,AK3,AK3,AK3 Silent,Silent,Silent,Silent,Silent exm736893 9 4718440 [T/G] NM_001199852,NM_001199856,NM_001199855,NM_001199853,NM_016282 AK3,AK3,AK3,AK3,AK3 EXON Missense_K141T,Missense_K111T,Missense_K111T,Missense_K111T,Missense_K181T exm2196932 9 4718504 [A/G] NM_001199852,NM_001199856,NM_001199855,NM_001199853,NM_016282 AK3,AK3,AK3,AK3,AK3 EXON Nonsense_Q120X,Nonsense_Q90X,Nonsense_Q90X,Nonsense_Q90X,Nonsense_Q160X exm736902 9 4719161 [A/T] NM_001199852,NM_001199856,NM_001199855,NM_001199853,NM_016282 AK3,AK3,AK3,AK3,AK3 EXON Missense_I100F,Missense_I70F,Missense_I70F,Missense_I70F,Missense_I140F exm2196937 9 4719182 [A/C] NM_001199852,NM_001199856,NM_001199855,NM_001199853,NM_016282 AK3,AK3,AK3,AK3,AK3 EXON Missense_A93S,Missense_A63S,Missense_A63S,Missense_A63S,Missense_A133S exm736916 9 4722574 [A/T] NM_001199852,NM_001199856,NM_001199855,NM_001199853,NM_016282 AK3,AK3,AK3,AK3,AK3 EXON Silent,Silent,Silent,Silent,Missense_D68V exm-rs385893 9 4763176 [T/C] exm2196952 9 4826888 [T/C] NM_005772 RCL1 EXON Missense_L80P exm736950 9 4826961 [G/C] NM_005772 RCL1 EXON Missense_C104W exm736953 9 4827014 [A/G] NM_005772 RCL1 EXON Missense_N122S exm736957 9 4833154 [A/G] NM_005772 RCL1 EXON Missense_V129I exm736958 9 4833202 [A/C] NM_005772 RCL1 EXON Missense_I145L exm736960 9 4834151 [T/G] NM_005772 RCL1 EXON Missense_R157L exm736963 9 4834165 [A/G] NM_005772 RCL1 EXON Missense_G162R exm-rs7861943 9 4836811 [T/C] NM_005772 RCL1 Silent exm736973 9 4841290 [A/G] NM_005772 RCL1 EXON Missense_I215V exm736989 9 4844659 [T/G] NM_005772 RCL1 EXON Missense_L282R exm-rs10758658 9 4856877 [A/G] NM_005772 RCL1 Silent exm2262658 9 4859106 [T/C] NM_005772 RCL1 Silent exm737005 9 4860139 [A/G] NM_005772 RCL1 EXON Missense_R329Q exm737014 9 4860267 [T/C] NM_005772 RCL1 EXON Missense_L372F exm2266784 9 4895391 [A/G] exm-rs10758669 9 4981602 [A/C] exm737026 9 5029893 [C/G] NM_004972 JAK2 EXON Missense_L113V exm2248198 9 5044432 [A/G] NM_004972 JAK2 EXON Missense_G127D exm737029 9 5044458 [T/A] NM_004972 JAK2 EXON Missense_I136L exm737042 9 5054679 [A/G] NM_004972 JAK2 EXON Missense_K244R exm737046 9 5055741 [A/G] NM_004972 JAK2 EXON Missense_N337D exm2196996 9 5065000 [A/G] NM_004972 JAK2 EXON Missense_V392M exm737051 9 5065003 [G/C] NM_004972 JAK2 EXON Missense_L393V exm737062 9 5069134 [T/G] NM_004972 JAK2 EXON Missense_C480F exm-rs10974944 9 5070831 [C/G] NM_004972 JAK2 Silent exm737085 9 5073770 [T/G] NM_004972 JAK2 EXON Missense_V617F exm737104 9 5080623 [C/G] NM_004972 JAK2 EXON Missense_P792A exm737106 9 5080639 [G/C] NM_004972 JAK2 EXON Missense_S797C exm737112 9 5081828 [C/G] NM_004972 JAK2 EXON Missense_E846D exm737119 9 5089776 [G/C] NM_004972 JAK2 EXON Missense_L892V exm737128 9 5090536 [T/C] NM_004972 JAK2 EXON Missense_I951T exm737149 9 5126443 [A/T] NM_004972 JAK2 EXON Missense_D1096E exm737152 9 5126715 [A/G] NM_004972 JAK2 EXON Missense_N1108S exm737163 9 5164066 [T/C] NM_007179 INSL6 EXON Nonsense_W163X exm737170 9 5164151 [T/C] NM_007179 INSL6 EXON Missense_H135R exm737177 9 5164260 [T/C] NM_007179 INSL6 EXON Missense_T99A exm737178 9 5164266 [T/C] NM_007179 INSL6 Silent exm737184 9 5185335 [A/G] NM_007179 INSL6 EXON Missense_R90W exm737189 9 5185365 [A/G] NM_007179 INSL6 EXON Missense_F80L exm737191 9 5185368 [C/G] NM_007179 INSL6 EXON Missense_Q79E exm737197 9 5185460 [A/G] NM_007179 INSL6 EXON Missense_A48V exm737199 9 5185470 [T/A] NM_007179 INSL6 EXON Missense_C45S exm737203 9 5185538 [T/C] NM_007179 INSL6 EXON Missense_E22G exm2197063 9 5185550 [C/G] NM_007179 INSL6 EXON Missense_R18P exm737207 9 5185569 [T/G] NM_007179 INSL6 EXON Missense_L12I exm737211 9 5185581 [T/A] NM_007179 INSL6 EXON Missense_S8T exm737213 9 5185598 [A/G] NM_007179 INSL6 EXON Missense_P2L exm737214 9 5185599 [A/G] NM_007179 INSL6 EXON Missense_P2S exm-rs10975003 9 5213687 [T/C] exm737217 9 5231525 [T/C] NM_002195 INSL4 EXON Missense_M1T exm737218 9 5231539 [T/C] NM_002195 INSL4 EXON Missense_R6W exm737225 9 5231605 [G/C] NM_002195 INSL4 EXON Missense_L28V exm737226 9 5231609 [A/G] NM_002195 INSL4 EXON Missense_R29K exm737228 9 5231628 [T/G] NM_002195 INSL4 EXON Missense_F35L exm737235 9 5231699 [T/C] NM_002195 INSL4 EXON Missense_L59P exm737236 9 5231711 [A/G] NM_002195 INSL4 EXON Missense_R63H exm737243 9 5233688 [A/T] NM_002195 INSL4 EXON Missense_Q77H exm737248 9 5233788 [T/C] NM_002195 INSL4 EXON Missense_R111C exm737252 9 5233855 [A/C] NM_002195 INSL4 EXON Missense_T133N exm2248200 9 5300216 [T/C] NM_005059,NM_134441 RLN2,RLN2 EXON Silent,Missense_E147G exm737261 9 5300223 [A/G] NM_005059,NM_134441 RLN2,RLN2 EXON Silent,Missense_P145S exm737266 9 5300255 [A/C] NM_005059,NM_134441 RLN2,RLN2 EXON Silent,Missense_R134L exm737268 9 5300268 [T/C] NM_005059,NM_134441 RLN2,RLN2 EXON Silent,Missense_K130E exm737272 9 5300313 [A/G] NM_005059,NM_134441 RLN2,RLN2 EXON Silent,Missense_H115Y exm737278 9 5300354 [T/G] NM_005059,NM_134441 RLN2,RLN2 EXON Silent,Missense_T101N exm737280 9 5300385 [G/C] NM_005059,NM_134441 RLN2,RLN2 EXON Silent,Missense_V91L exm737282 9 5300439 [G/C] NM_005059,NM_134441 RLN2,RLN2 EXON Missense_L106F,Missense_V73L exm737306 9 5335264 [T/G] NM_006911 RLN1 EXON Missense_A182D exm737309 9 5335329 [G/C] NM_006911 RLN1 EXON Missense_K160N exm737317 9 5335408 [T/C] NM_006911 RLN1 EXON Missense_R134H exm737326 9 5335570 [T/C] NM_006911 RLN1 EXON Missense_D80G exm2248202 9 5339657 [T/A] NM_006911 RLN1 EXON Missense_D30E exm2248204 9 5339664 [T/A] NM_006911 RLN1 EXON Missense_K28M exm737335 9 5339688 [A/G] NM_006911 RLN1 EXON Missense_S20F exm737339 9 5339715 [T/C] NM_006911 RLN1 EXON Missense_E11G exm737342 9 5339729 [A/C] NM_006911 RLN1 EXON Missense_L6F exm2259385 9 5346352 [A/G] exm737355 9 5361143 [C/G] NM_018465 PLGRKT EXON Missense_P86R exm737361 9 5361758 [C/G] NM_018465 PLGRKT EXON Missense_G71A exm737365 9 5361824 [G/C] NM_018465 PLGRKT EXON Missense_W49S exm737369 9 5431913 [A/G] NM_018465 PLGRKT EXON Missense_M22T exm737373 9 5456126 [C/G] NR_052005,NM_014143,NM_001267706 CD274,CD274,CD274 EXON Silent,Missense_A5P,Missense_A5P exm737374 9 5457091 [T/C] NR_052005,NM_014143,NM_001267706 CD274,CD274,CD274 EXON Silent,Missense_T22M,Silent exm737388 9 5462876 [G/C] NR_052005,NM_014143,NM_001267706 CD274,CD274,CD274 EXON Silent,Missense_P146R,Missense_P32R exm737390 9 5462929 [A/G] NR_052005,NM_014143,NM_001267706 CD274,CD274,CD274 EXON Silent,Missense_E164K,Missense_E50K exm737396 9 5465514 [T/A] NR_052005,NM_014143,NM_001267706 CD274,CD274,CD274 EXON Silent,Missense_H233L,Missense_H119L exm737402 9 5466785 [T/A] NR_052005,NM_014143,NM_001267706 CD274,CD274,CD274 EXON Silent,Missense_V269E,Missense_V155E exm737421 9 5534862 [G/C] NM_025239 PDCD1LG2 EXON Missense_S58T exm737422 9 5534898 [A/G] NM_025239 PDCD1LG2 EXON Missense_R70H exm737423 9 5534924 [G/C] NM_025239 PDCD1LG2 EXON Missense_Q79E exm737424 9 5534930 [T/C] NM_025239 PDCD1LG2 EXON Missense_P81S exm737445 9 5549451 [A/G] NM_025239 PDCD1LG2 EXON Missense_V160I exm737450 9 5549507 [T/A] NM_025239 PDCD1LG2 EXON Missense_S178R exm737461 9 5557708 [T/C] NM_025239 PDCD1LG2 EXON Missense_I241T exm737462 9 5557726 [A/T] NM_025239 PDCD1LG2 EXON Missense_L247H exm737469 9 5656610 [G/C] NM_020829,NM_001206557,NM_001135920 KIAA1432,KIAA1432,KIAA1432 EXON Missense_E58Q,Missense_E58Q,Missense_E58Q exm2266888 9 5703443 [A/G] NM_020829,NM_001206557,NM_001135920 KIAA1432,KIAA1432,KIAA1432 Silent,Silent,Silent exm737477 9 5713908 [A/C] NM_020829,NM_001206557,NM_001135920 KIAA1432,KIAA1432,KIAA1432 EXON Missense_Q115H,Missense_Q115H,Missense_Q115H exm737500 9 5732455 [A/G] NM_020829,NM_001206557,NM_001135920 KIAA1432,KIAA1432,KIAA1432 EXON Missense_R263Q,Missense_R263Q,Missense_R263Q exm737513 9 5746010 [T/G] NM_020829,NM_001206557,NM_001135920 KIAA1432,KIAA1432,KIAA1432 EXON Missense_R392M,Missense_R392M,Missense_R392M exm737520 9 5747381 [C/G] NM_020829,NM_001206557,NM_001135920 KIAA1432,KIAA1432,KIAA1432 EXON Missense_P443R,Missense_P443R,Missense_P443R exm737521 9 5747390 [A/C] NM_020829,NM_001206557,NM_001135920 KIAA1432,KIAA1432,KIAA1432 EXON Missense_S446Y,Missense_S446Y,Missense_S446Y exm737523 9 5747418 [T/G] NM_020829,NM_001206557,NM_001135920 KIAA1432,KIAA1432,KIAA1432 EXON Missense_S455R,Missense_S455R,Missense_S455R exm737543 9 5756326 [A/G] NM_020829,NM_001206557,NM_001135920 KIAA1432,KIAA1432,KIAA1432 EXON Missense_A603T,Missense_A566T,Missense_A603T exm737545 9 5757363 [A/G] NM_020829,NM_001206557,NM_001135920 KIAA1432,KIAA1432,KIAA1432 EXON Missense_R635H,Missense_R598H,Missense_R635H exm737556 9 5762588 [G/C] NM_020829,NM_001206557,NM_001135920 KIAA1432,KIAA1432,KIAA1432 EXON Missense_I680M,Missense_I643M,Missense_I680M exm2266786 9 5762894 [A/G] NM_020829,NM_001206557,NM_001135920 KIAA1432,KIAA1432,KIAA1432 Silent,Silent,Silent exm737576 9 5763690 [T/C] NM_020829,NM_001206557,NM_001135920 KIAA1432,KIAA1432,KIAA1432 EXON Missense_A888V,Missense_A851V,Missense_A888V exm737592 9 5765535 [A/G] NM_020829,NM_001206557,NM_001135920 KIAA1432,KIAA1432,KIAA1432 EXON Missense_G988E,Missense_G951E,Missense_G988E exm737602 9 5769034 [T/C] NM_020829,NM_001206557,NM_001135920 KIAA1432,KIAA1432,KIAA1432 EXON Missense_R1068W,Missense_R1031W,Missense_R1068W exm737612 9 5769209 [A/C] NM_020829,NM_001206557,NM_001135920 KIAA1432,KIAA1432,KIAA1432 EXON Missense_P1126Q,Missense_P1089Q,Missense_P1126Q exm737615 9 5769251 [A/G] NM_020829,NM_001206557,NM_001135920 KIAA1432,KIAA1432,KIAA1432 EXON Missense_R1140Q,Missense_R1103Q,Missense_R1140Q exm737617 9 5769326 [A/G] NM_020829,NM_001206557,NM_001135920 KIAA1432,KIAA1432,KIAA1432 EXON Silent,Silent,Missense_Y1165C exm737620 9 5770116 [C/G] NM_020829,NM_001206557 KIAA1432,KIAA1432 EXON Missense_A1152P,Missense_A1115P exm737629 9 5770273 [A/G] NM_020829,NM_001206557 KIAA1432,KIAA1432 EXON Missense_N1204S,Missense_N1167S exm737641 9 5772978 [A/G] NM_020829,NM_001206557 KIAA1432,KIAA1432 EXON Missense_N1294S,Missense_N1257S exm737643 9 5773036 [A/G] NM_020829,NM_001206557 KIAA1432,KIAA1432 EXON Missense_I1313M,Missense_I1276M exm737669 9 5787242 [T/C] NM_024896 ERMP1 EXON Missense_D873N exm737677 9 5787439 [T/C] NM_024896 ERMP1 EXON Missense_I847M exm2248206 9 5787566 [T/C] NM_024896 ERMP1 EXON Missense_R805Q exm737681 9 5787572 [T/C] NM_024896 ERMP1 EXON Missense_Y803C exm737682 9 5797816 [A/C] NM_024896 ERMP1 Silent exm2197216 9 5798887 [T/C] NM_024896 ERMP1 EXON Missense_N730S exm737717 9 5805764 [G/C] NM_024896 ERMP1 EXON Missense_G524R exm737724 9 5810080 [T/A] NM_024896 ERMP1 EXON Nonsense_C493X exm737727 9 5810093 [T/C] NM_024896 ERMP1 EXON Missense_Y489C exm737729 9 5810103 [T/C] NM_024896 ERMP1 EXON Missense_N486D exm737735 9 5811144 [C/G] NM_024896 ERMP1 EXON Missense_L432V exm737736 9 5811183 [T/C] NM_024896 ERMP1 EXON Missense_I419V exm737738 9 5811257 [T/C] NM_024896 ERMP1 EXON Missense_Y394C exm737751 9 5812897 [T/G] NM_024896 ERMP1 EXON Missense_N338T exm737759 9 5823956 [G/C] NM_024896 ERMP1 EXON Missense_R272G exm737766 9 5830789 [C/G] NM_024896 ERMP1 EXON Missense_R193T exm737771 9 5830856 [T/C] NM_024896 ERMP1 EXON Missense_D171N exm737779 9 5832719 [G/C] NM_024896 ERMP1 EXON Missense_H103Q exm737794 9 5892552 [G/C] NM_005511 MLANA Silent exm2259387 9 5897560 [T/C] NM_005511 MLANA EXON Synonymous_A27A exm737797 9 5897570 [C/G] NM_005511 MLANA EXON Missense_G31R exm737803 9 5906952 [T/A] NM_005511 MLANA EXON Missense_H81L exm737804 9 5906954 [T/C] NM_005511 MLANA EXON Missense_R82W exm737805 9 5908647 [A/G] NM_005511 MLANA EXON Missense_N99S exm737814 9 5919734 [A/G] NM_001017969 KIAA2026 EXON Missense_P2088S exm737815 9 5919736 [A/C] NM_001017969 KIAA2026 EXON Missense_F2087C exm737820 9 5919754 [T/C] NM_001017969 KIAA2026 EXON Missense_R2081Q exm737833 9 5919923 [A/G] NM_001017969 KIAA2026 EXON Missense_P2025S exm737834 9 5919929 [T/C] NM_001017969 KIAA2026 EXON Missense_I2023V exm737842 9 5920028 [T/C] NM_001017969 KIAA2026 EXON Missense_A1990T exm737846 9 5920070 [T/C] NM_001017969 KIAA2026 EXON Missense_I1976V exm737851 9 5920283 [T/C] NM_001017969 KIAA2026 EXON Missense_G1905R exm737852 9 5920301 [T/C] NM_001017969 KIAA2026 EXON Missense_V1899I exm737861 9 5920454 [T/G] NM_001017969 KIAA2026 EXON Missense_T1848P exm737863 9 5920528 [A/G] NM_001017969 KIAA2026 EXON Missense_T1823M exm737868 9 5920649 [A/G] NM_001017969 KIAA2026 EXON Missense_R1783W exm737875 9 5920702 [A/G] NM_001017969 KIAA2026 EXON Missense_S1765L exm737892 9 5920886 [A/G] NM_001017969 KIAA2026 EXON Missense_L1704F exm737893 9 5920894 [A/G] NM_001017969 KIAA2026 EXON Missense_S1701L exm737894 9 5920900 [A/C] NM_001017969 KIAA2026 EXON Missense_L1699R exm737897 9 5920960 [A/G] NM_001017969 KIAA2026 EXON Missense_P1679L exm737898 9 5921021 [T/G] NM_001017969 KIAA2026 EXON Missense_N1659H exm737903 9 5921074 [T/G] NM_001017969 KIAA2026 EXON Missense_E1641A exm737911 9 5921219 [T/C] NM_001017969 KIAA2026 EXON Missense_I1593V exm2197287 9 5921539 [T/C] NM_001017969 KIAA2026 EXON Missense_N1486S exm737926 9 5921575 [A/G] NM_001017969 KIAA2026 EXON Missense_M1474T exm737938 9 5921830 [A/G] NM_001017969 KIAA2026 EXON Missense_T1389I exm737939 9 5921844 [T/G] NM_001017969 KIAA2026 EXON Missense_H1384Q exm737940 9 5921851 [A/G] NM_001017969 KIAA2026 EXON Missense_L1382S exm737943 9 5921881 [A/G] NM_001017969 KIAA2026 EXON Missense_T1372I exm737944 9 5921885 [A/G] NM_001017969 KIAA2026 EXON Missense_L1371F exm737948 9 5921968 [G/C] NM_001017969 KIAA2026 EXON Missense_S1343C exm737954 9 5922071 [T/C] NM_001017969 KIAA2026 EXON Missense_S1309G exm737956 9 5922080 [C/G] NM_001017969 KIAA2026 EXON Missense_V1306L exm737963 9 5922248 [T/C] NM_001017969 KIAA2026 EXON Missense_S1250G exm737967 9 5922316 [A/G] NM_001017969 KIAA2026 EXON Missense_P1227L exm737977 9 5922517 [A/G] NM_001017969 KIAA2026 EXON Missense_V1160A exm737978 9 5922529 [A/G] NM_001017969 KIAA2026 EXON Missense_S1156L exm737986 9 5922860 [T/C] NM_001017969 KIAA2026 EXON Missense_S1046G exm737997 9 5923103 [G/C] NM_001017969 KIAA2026 EXON Missense_L965V exm738004 9 5923181 [A/C] NM_001017969 KIAA2026 EXON Missense_Y939D exm738008 9 5923273 [T/G] NM_001017969 KIAA2026 EXON Missense_A908D exm738014 9 5924709 [T/C] NM_001017969 KIAA2026 EXON Missense_I879V exm738022 9 5954024 [C/G] NM_001017969 KIAA2026 EXON Missense_E762Q exm738032 9 5968120 [T/C] NM_001017969 KIAA2026 EXON Missense_R704H exm738034 9 5968204 [T/C] NM_001017969 KIAA2026 EXON Missense_K676R exm738037 9 5968303 [T/C] NM_001017969 KIAA2026 EXON Missense_H643R exm738045 9 5968556 [T/G] NM_001017969 KIAA2026 EXON Missense_I559L exm738047 9 5968676 [T/G] NM_001017969 KIAA2026 EXON Missense_T519P exm738048 9 5968700 [T/C] NM_001017969 KIAA2026 EXON Missense_K511E exm738049 9 5968721 [A/C] NM_001017969 KIAA2026 EXON Missense_V504L exm738051 9 5968777 [T/C] NM_001017969 KIAA2026 EXON Missense_K485R exm2259388 9 5969307 [T/C] NM_001017969 KIAA2026 EXON Synonymous_G308G exm738071 9 5969431 [T/C] NM_001017969 KIAA2026 EXON Missense_R267Q exm738074 9 5988441 [A/G] NM_001017969 KIAA2026 EXON Missense_P233L exm738076 9 5988505 [A/C] NM_001017969 KIAA2026 EXON Missense_G212C exm738077 9 6007196 [A/G] NM_001017969 KIAA2026 EXON Missense_R198W exm2197329 9 6007224 [A/C] NM_001017969 KIAA2026 EXON Missense_M188I exm738093 9 6007654 [A/C] NM_001017969 KIAA2026 EXON Missense_R45M exm738102 9 6012313 [T/G] NM_012416,NM_001243202,NM_001243203 RANBP6,RANBP6,RANBP6 EXON Missense_Q1099K,Missense_Q747K,Silent exm738113 9 6012831 [T/C] NM_012416,NM_001243202,NM_001243203 RANBP6,RANBP6,RANBP6 EXON Missense_N926S,Missense_N574S,Silent exm738134 9 6013617 [T/C] NM_012416,NM_001243202,NM_001243203 RANBP6,RANBP6,RANBP6 EXON Missense_G664D,Missense_G312D,Silent exm738135 9 6013624 [T/C] NM_012416,NM_001243202,NM_001243203 RANBP6,RANBP6,RANBP6 EXON Missense_D662N,Missense_D310N,Silent exm738144 9 6013854 [A/G] NM_012416,NM_001243202,NM_001243203 RANBP6,RANBP6,RANBP6 EXON Missense_A585V,Missense_A233V,Silent exm738145 9 6013857 [T/C] NM_012416,NM_001243202,NM_001243203 RANBP6,RANBP6,RANBP6 EXON Missense_D584G,Missense_D232G,Silent exm2197342 9 6014071 [T/C] NM_012416,NM_001243202,NM_001243203 RANBP6,RANBP6,RANBP6 EXON Missense_T513A,Missense_T161A,Silent exm738154 9 6014110 [T/C] NM_012416,NM_001243202,NM_001243203 RANBP6,RANBP6,RANBP6 EXON Missense_V500I,Missense_V148I,Silent exm738164 9 6014446 [T/G] NM_012416,NM_001243202,NM_001243203 RANBP6,RANBP6,RANBP6 EXON Missense_M388L,Silent,Silent exm738167 9 6014488 [T/C] NM_012416,NM_001243202,NM_001243203 RANBP6,RANBP6,RANBP6 EXON Missense_M374V,Silent,Silent exm738168 9 6014541 [A/C] NM_012416,NM_001243202,NM_001243203 RANBP6,RANBP6,RANBP6 EXON Missense_C356F,Silent,Silent exm2248218 9 6014726 [G/C] NM_012416,NM_001243202,NM_001243203 RANBP6,RANBP6,RANBP6 EXON Missense_L294F,Silent,Silent exm738171 9 6014735 [T/C] NM_012416,NM_001243202,NM_001243203 RANBP6,RANBP6,RANBP6 EXON Missense_I291M,Silent,Silent exm738211 9 6015576 [T/G] NM_012416,NM_001243202,NM_001243203 RANBP6,RANBP6,RANBP6 EXON Missense_A11E,Missense_A11E,Missense_A11E exm2271046 9 6098662 [T/G] exm-rs1342326 9 6190076 [A/C] exm738219 9 6250546 [A/G] NM_001199640,NM_033439,NM_001199641 IL33,IL33,IL33 EXON Missense_K55R,Missense_K55R,Silent exm738220 9 6250600 [T/G] NM_001199640,NM_033439,NM_001199641 IL33,IL33,IL33 Silent,Silent,Silent exm738222 9 6251169 [A/G] NM_001199640,NM_033439,NM_001199641 IL33,IL33,IL33 EXON Missense_A83T,Missense_A83T,Silent exm738228 9 6251244 [T/C] NM_001199640,NM_033439,NM_001199641 IL33,IL33,IL33 EXON Missense_L108F,Missense_L108F,Silent exm738236 9 6252979 [T/G] NM_001199640,NM_033439,NM_001199641 IL33,IL33,IL33 EXON Silent,Missense_D153Y,Silent exm738239 9 6253575 [T/G] NM_001199640,NM_033439,NM_001199641 IL33,IL33,IL33 EXON Nonsense_E123X,Nonsense_E165X,Nonsense_E39X exm738244 9 6254544 [C/G] NM_001199640,NM_033439,NM_001199641 IL33,IL33,IL33 EXON Missense_H159Q,Missense_H201Q,Missense_H75Q exm738245 9 6255967 [C/G] NM_001199640,NM_033439,NM_001199641 IL33,IL33,IL33 Silent,Silent,Silent exm738254 9 6256144 [C/G] NM_001199640,NM_033439,NM_001199641 IL33,IL33,IL33 EXON Missense_I221M,Missense_I263M,Missense_I137M exm2266889 9 6280786 [A/G] exm738261 9 6328643 [G/C] NM_001001875,NM_033516,NM_001001874 TPD52L3,TPD52L3,TPD52L3 EXON Missense_H16Q,Missense_H16Q,Missense_H16Q exm738271 9 6328797 [A/G] NM_001001875,NM_033516,NM_001001874 TPD52L3,TPD52L3,TPD52L3 EXON Missense_A68T,Missense_A68T,Missense_A68T exm738273 9 6328856 [C/G] NM_001001875,NM_033516,NM_001001874 TPD52L3,TPD52L3,TPD52L3 EXON Missense_N87K,Missense_N87K,Missense_N87K exm2197376 9 6328929 [A/G] NM_001001875,NM_033516,NM_001001874 TPD52L3,TPD52L3,TPD52L3 EXON Missense_V112M,Missense_V112M,Missense_V112M exm738277 9 6328947 [T/C] NM_001001875,NM_033516,NM_001001874 TPD52L3,TPD52L3,TPD52L3 EXON Missense_F118L,Missense_F118L,Missense_F118L exm738279 9 6328996 [A/G] NM_001001875,NM_033516,NM_001001874 TPD52L3,TPD52L3,TPD52L3 EXON Silent,Missense_G134E,Silent exm738292 9 6330997 [T/C] NM_001001874 TPD52L3 EXON Missense_T130M exm2197388 9 6421018 [A/T] NM_152896,NR_046386 UHRF2,UHRF2 EXON Missense_I87N,Silent exm2274343 9 6421069 [A/G] NM_152896,NR_046386 UHRF2,UHRF2 EXON Missense_R104K,Silent exm738318 9 6421105 [A/G] NM_152896,NR_046386 UHRF2,UHRF2 EXON Missense_R116H,Silent exm738338 9 6434112 [A/G] NM_152896,NR_046386 UHRF2,UHRF2 EXON Missense_T195A,Silent exm738382 9 6482002 [T/G] NM_152896,NR_046386 UHRF2,UHRF2 EXON Missense_C432F,Silent exm738411 9 6500594 [T/C] NM_152896,NR_046386 UHRF2,UHRF2 EXON Missense_S683L,Silent exm738430 9 6533018 [T/A] NM_000170 GLDC EXON Missense_X1021L exm738433 9 6533092 [G/C] NM_000170 GLDC EXON Missense_Q996H exm738441 9 6534764 [T/C] NM_000170 GLDC EXON Missense_V955I exm738443 9 6534775 [T/G] NM_000170 GLDC EXON Missense_S951Y exm738455 9 6536219 [T/C] NM_000170 GLDC EXON Missense_M895V exm738491 9 6554781 [A/C] NM_000170 GLDC EXON Missense_V735L exm738497 9 6556208 [A/T] NM_000170 GLDC EXON Missense_L716H exm738518 9 6587200 [G/C] NM_000170 GLDC EXON Missense_E597D exm738524 9 6588403 [T/C] NM_000170 GLDC EXON Missense_A569T exm738528 9 6588665 [T/G] NM_000170 GLDC EXON Missense_K540Q exm738554 9 6595097 [C/G] NM_000170 GLDC EXON Missense_A393G exm738576 9 6604775 [A/C] NM_000170 GLDC EXON Missense_C291G exm2248225 9 6605131 [C/G] NM_000170 GLDC EXON Synonymous_G287G exm738584 9 6606605 [C/G] NM_000170 GLDC EXON Missense_Q234E exm738585 9 6606607 [A/G] NM_000170 GLDC EXON Missense_V233A exm738596 9 6610208 [C/G] NM_000170 GLDC EXON Missense_L207V exm738610 9 6644629 [T/C] NM_000170 GLDC EXON Missense_M107V exm2266787 9 6722212 [A/G] NM_001146696 KDM4C Silent exm-rs4742269 9 6849317 [A/G] NM_001146696,NM_015061,NM_001146695,NM_001146694 KDM4C,KDM4C,KDM4C,KDM4C Silent,Silent,Silent,Silent exm738653 9 6849628 [T/C] NM_001146696,NM_015061,NM_001146695,NM_001146694 KDM4C,KDM4C,KDM4C,KDM4C EXON Missense_T208M,Missense_T186M,Missense_T186M,Missense_T186M exm738659 9 6887978 [C/G] NM_001146696,NM_015061,NM_001146695,NM_001146694 KDM4C,KDM4C,KDM4C,KDM4C EXON Missense_S255C,Missense_S233C,Missense_S233C,Missense_S233C exm738667 9 6893142 [A/C] NM_001146696,NM_015061,NM_001146695,NM_001146694 KDM4C,KDM4C,KDM4C,KDM4C EXON Nonsense_Y299X,Nonsense_Y277X,Nonsense_Y277X,Nonsense_Y277X exm738675 9 6984169 [C/G] NM_001146696,NM_015061,NM_001146695,NM_001146694 KDM4C,KDM4C,KDM4C,KDM4C EXON Missense_F395L,Missense_F373L,Missense_F373L,Missense_F373L exm738679 9 6984227 [T/G] NM_001146696,NM_015061,NM_001146695,NM_001146694 KDM4C,KDM4C,KDM4C,KDM4C EXON Missense_D415Y,Missense_D393Y,Missense_D393Y,Missense_D393Y exm738680 9 6984236 [A/G] NM_001146696,NM_015061,NM_001146695,NM_001146694 KDM4C,KDM4C,KDM4C,KDM4C EXON Missense_D418N,Missense_D396N,Missense_D396N,Missense_D396N exm738684 9 6984375 [A/G] NM_001146696,NM_015061,NM_001146695,NM_001146694 KDM4C,KDM4C,KDM4C,KDM4C EXON Missense_Q464R,Missense_Q442R,Missense_Q442R,Missense_Q442R exm738688 9 6986365 [A/C] NM_001146696,NM_015061,NM_001146695,NM_001146694 KDM4C,KDM4C,KDM4C,KDM4C EXON Missense_S481Y,Missense_S459Y,Missense_S459Y,Missense_S459Y exm738690 9 6986379 [A/G] NM_001146696,NM_015061,NM_001146695,NM_001146694 KDM4C,KDM4C,KDM4C,KDM4C EXON Missense_I486V,Missense_I464V,Missense_I464V,Missense_I464V exm738691 9 6986395 [A/G] NM_001146696,NM_015061,NM_001146695,NM_001146694 KDM4C,KDM4C,KDM4C,KDM4C EXON Missense_D491G,Missense_D469G,Missense_D469G,Missense_D469G exm738694 9 6986464 [C/G] NM_001146696,NM_015061,NM_001146695,NM_001146694 KDM4C,KDM4C,KDM4C,KDM4C EXON Missense_S514T,Missense_S492T,Missense_S492T,Missense_S492T exm738696 9 6986481 [A/G] NM_001146696,NM_015061,NM_001146695,NM_001146694 KDM4C,KDM4C,KDM4C,KDM4C EXON Missense_E520K,Missense_E498K,Missense_E498K,Missense_E498K exm738700 9 6986589 [A/C] NM_001146696,NM_015061,NM_001146695,NM_001146694 KDM4C,KDM4C,KDM4C,KDM4C EXON Missense_S556R,Missense_S534R,Missense_S534R,Missense_S534R exm738703 9 6986635 [A/G] NM_001146696,NM_015061,NM_001146695,NM_001146694 KDM4C,KDM4C,KDM4C,KDM4C EXON Missense_S571N,Missense_S549N,Missense_S549N,Missense_S549N exm738707 9 6990419 [A/G] NM_001146696,NM_015061,NM_001146695,NM_001146694 KDM4C,KDM4C,KDM4C,KDM4C EXON Missense_A583T,Missense_A561T,Missense_A561T,Missense_A561T exm738710 9 6990510 [T/C] NM_001146696,NM_015061,NM_001146695,NM_001146694 KDM4C,KDM4C,KDM4C,KDM4C EXON Missense_A613V,Missense_A591V,Missense_A591V,Missense_A591V exm738712 9 7011719 [T/C] NM_001146696,NM_015061,NM_001146695,NM_001146694 KDM4C,KDM4C,KDM4C,KDM4C EXON Missense_I625T,Missense_I603T,Missense_I603T,Missense_I603T exm738714 9 7011752 [T/C] NM_001146696,NM_015061,NM_001146695,NM_001146694 KDM4C,KDM4C,KDM4C,KDM4C EXON Missense_A636V,Missense_A614V,Missense_A614V,Missense_A614V exm2277388 9 7013801 [A/G] NM_001146696,NM_015061,NM_001146695,NM_001146694 KDM4C,KDM4C,KDM4C,KDM4C EXON Missense_N683S,Missense_N661S,Missense_N661S,Missense_N661S exm738727 9 7013824 [A/G] NM_001146696,NM_015061,NM_001146695,NM_001146694 KDM4C,KDM4C,KDM4C,KDM4C EXON Missense_E691K,Missense_E669K,Missense_E669K,Missense_E669K exm738738 9 7013946 [C/G] NM_001146696,NM_015061,NM_001146695,NM_001146694 KDM4C,KDM4C,KDM4C,KDM4C EXON Missense_E731D,Missense_E709D,Missense_E709D,Missense_E709D exm738741 9 7013986 [A/G] NM_001146696,NM_015061,NM_001146695,NM_001146694 KDM4C,KDM4C,KDM4C,KDM4C EXON Missense_V745I,Missense_V723I,Missense_V723I,Missense_V723I exm738751 9 7046901 [G/C] NM_001146696,NM_015061,NM_001146695,NM_001146694 KDM4C,KDM4C,KDM4C,KDM4C EXON Missense_Q789E,Missense_Q767E,Missense_Q767E,Missense_Q767E exm738753 9 7046917 [A/G] NM_001146696,NM_015061,NM_001146695,NM_001146694 KDM4C,KDM4C,KDM4C,KDM4C EXON Missense_K794R,Missense_K772R,Missense_K772R,Missense_K772R exm2266788 9 7124815 [A/G] NM_015061,NM_001146694 KDM4C,KDM4C Silent,Silent exm738794 9 7170006 [A/G] NM_015061,NM_001146694 KDM4C,KDM4C EXON Silent,Missense_S1037N exm738800 9 7174673 [A/G] NM_015061 KDM4C EXON Missense_V1039I exm2271165 9 7385490 [T/C] exm2271047 9 7581533 [T/G] exm-rs842304 9 7682601 [A/C] exm-rs10119431 9 7759331 [A/G] exm738813 9 7798578 [C/G] NM_033428 C9orf123 EXON Missense_V112L exm738815 9 7798587 [A/G] NM_033428 C9orf123 EXON Missense_Y109H exm738823 9 7799494 [T/G] NM_033428 C9orf123 EXON Missense_P81T exm-rs1535480 9 7925381 [T/G] exm-rs7044355 9 8196511 [A/G] exm2266789 9 8230433 [A/G] exm-rs10815798 9 8235633 [A/G] exm2248310 9 8319965 [T/C] NM_001171025,NM_130393,NM_002839,NM_130391,NM_001040712,NM_130392 PTPRD,PTPRD,PTPRD,PTPRD,PTPRD,PTPRD EXON Missense_A1439T,Missense_A1430T,Missense_A1846T,Missense_A1439T,Missense_A1436T,Missense_A1440T exm2248311 9 8331588 [T/C] NM_001171025,NM_130393,NM_002839,NM_130391,NM_001040712,NM_130392 PTPRD,PTPRD,PTPRD,PTPRD,PTPRD,PTPRD EXON Missense_H1436R,Missense_H1427R,Missense_H1843R,Missense_H1436R,Missense_H1433R,Missense_H1437R exm738865 9 8331667 [T/C] NM_001171025,NM_130393,NM_002839,NM_130391,NM_001040712,NM_130392 PTPRD,PTPRD,PTPRD,PTPRD,PTPRD,PTPRD EXON Missense_G1410R,Missense_G1401R,Missense_G1817R,Missense_G1410R,Missense_G1407R,Missense_G1411R exm738881 9 8341267 [T/C] NM_001171025,NM_130393,NM_002839,NM_130391,NM_001040712,NM_130392 PTPRD,PTPRD,PTPRD,PTPRD,PTPRD,PTPRD EXON Missense_R1243H,Missense_R1234H,Missense_R1650H,Missense_R1243H,Missense_R1240H,Missense_R1244H exm738898 9 8375990 [T/C] NM_001171025,NM_130393,NM_002839,NM_130391,NM_001040712,NM_130392 PTPRD,PTPRD,PTPRD,PTPRD,PTPRD,PTPRD EXON Missense_R1129H,Missense_R1120H,Missense_R1536H,Missense_R1129H,Missense_R1126H,Missense_R1130H exm738926 9 8436680 [T/C] NM_001171025,NM_130393,NM_002839,NM_130391,NM_001040712,NM_130392 PTPRD,PTPRD,PTPRD,PTPRD,PTPRD,PTPRD EXON Missense_S926N,Missense_S917N,Missense_S1333N,Missense_S926N,Missense_S923N,Missense_S927N exm738951 9 8465632 [A/C] NM_001171025,NM_130393,NM_002839,NM_130391,NM_001040712,NM_130392 PTPRD,PTPRD,PTPRD,PTPRD,PTPRD,PTPRD EXON Missense_G762V,Missense_G767V,Missense_G1183V,Missense_G772V,Missense_G769V,Missense_G772V exm738952 9 8465633 [T/C] NM_001171025,NM_130393,NM_002839,NM_130391,NM_001040712,NM_130392 PTPRD,PTPRD,PTPRD,PTPRD,PTPRD,PTPRD EXON Missense_G762R,Missense_G767R,Missense_G1183R,Missense_G772R,Missense_G769R,Missense_G772R exm738954 9 8465660 [A/G] NM_001171025,NM_130393,NM_002839,NM_130391,NM_001040712,NM_130392 PTPRD,PTPRD,PTPRD,PTPRD,PTPRD,PTPRD EXON Missense_S753P,Missense_S758P,Missense_S1174P,Missense_S763P,Missense_S760P,Missense_S763P exm2199432 9 8471047 [T/C] NM_001171025,NM_130393,NM_002839,NM_130391,NM_001040712,NM_130392 PTPRD,PTPRD,PTPRD,PTPRD,PTPRD,PTPRD EXON Missense_R730H,Missense_R735H,Missense_R1151H,Missense_R740H,Missense_R737H,Missense_R740H exm738967 9 8484315 [T/C] NM_001171025,NM_130393,NM_002839,NM_130391,NM_001040712,NM_130392 PTPRD,PTPRD,PTPRD,PTPRD,PTPRD,PTPRD EXON Missense_V652I,Missense_V657I,Missense_V1073I,Missense_V662I,Missense_V659I,Missense_V662I exm738975 9 8485787 [C/G] NM_001171025,NM_130393,NM_002839,NM_130391,NM_001040712,NM_130392 PTPRD,PTPRD,PTPRD,PTPRD,PTPRD,PTPRD EXON Silent,Silent,Missense_Q1010H,Silent,Silent,Silent exm738985 9 8485885 [T/C] NM_001171025,NM_130393,NM_002839,NM_130391,NM_001040712,NM_130392 PTPRD,PTPRD,PTPRD,PTPRD,PTPRD,PTPRD EXON Silent,Silent,Missense_T978A,Silent,Silent,Silent exm738986 9 8485894 [G/C] NM_001171025,NM_130393,NM_002839,NM_130391,NM_001040712,NM_130392 PTPRD,PTPRD,PTPRD,PTPRD,PTPRD,PTPRD EXON Silent,Silent,Missense_A975P,Silent,Silent,Silent exm738987 9 8485903 [T/C] NM_001171025,NM_130393,NM_002839,NM_130391,NM_001040712,NM_130392 PTPRD,PTPRD,PTPRD,PTPRD,PTPRD,PTPRD EXON Silent,Silent,Missense_I972V,Silent,Silent,Silent exm738995 9 8485996 [G/C] NM_001171025,NM_130393,NM_002839,NM_130391,NM_001040712,NM_130392 PTPRD,PTPRD,PTPRD,PTPRD,PTPRD,PTPRD EXON Silent,Silent,Missense_P941A,Silent,Silent,Silent exm739001 9 8486061 [T/G] NM_001171025,NM_130393,NM_002839,NM_130391,NM_001040712,NM_130392 PTPRD,PTPRD,PTPRD,PTPRD,PTPRD,PTPRD EXON Silent,Silent,Missense_T919N,Silent,Silent,Silent exm739007 9 8486127 [A/G] NM_001171025,NM_130393,NM_002839,NM_130391,NM_001040712,NM_130392 PTPRD,PTPRD,PTPRD,PTPRD,PTPRD,PTPRD EXON Silent,Silent,Missense_A897V,Silent,Silent,Silent exm739009 9 8486142 [A/G] NM_001171025,NM_130393,NM_002839,NM_130391,NM_001040712,NM_130392 PTPRD,PTPRD,PTPRD,PTPRD,PTPRD,PTPRD EXON Silent,Silent,Missense_V892A,Silent,Silent,Silent exm739012 9 8486217 [A/G] NM_001171025,NM_130393,NM_002839,NM_130391,NM_001040712,NM_130392 PTPRD,PTPRD,PTPRD,PTPRD,PTPRD,PTPRD EXON Silent,Silent,Missense_P867L,Silent,Silent,Silent exm2199450 9 8486232 [A/C] NM_001171025,NM_130393,NM_002839,NM_130391,NM_001040712,NM_130392 PTPRD,PTPRD,PTPRD,PTPRD,PTPRD,PTPRD EXON Silent,Silent,Missense_R862L,Silent,Silent,Silent exm739016 9 8486247 [T/C] NM_001171025,NM_130393,NM_002839,NM_130391,NM_001040712,NM_130392 PTPRD,PTPRD,PTPRD,PTPRD,PTPRD,PTPRD EXON Silent,Silent,Missense_R857H,Silent,Silent,Silent exm739017 9 8486265 [T/C] NM_001171025,NM_130393,NM_002839,NM_130391,NM_001040712,NM_130392 PTPRD,PTPRD,PTPRD,PTPRD,PTPRD,PTPRD EXON Silent,Silent,Missense_G851E,Silent,Silent,Silent exm739021 9 8486284 [A/G] NM_001171025,NM_130393,NM_002839,NM_130391,NM_001040712,NM_130392 PTPRD,PTPRD,PTPRD,PTPRD,PTPRD,PTPRD EXON Silent,Silent,Missense_P845S,Silent,Silent,Silent exm739023 9 8486299 [A/G] NM_001171025,NM_130393,NM_002839,NM_130391,NM_001040712,NM_130392 PTPRD,PTPRD,PTPRD,PTPRD,PTPRD,PTPRD EXON Silent,Silent,Missense_L840F,Silent,Silent,Silent exm739028 9 8486335 [A/G] NM_001171025,NM_130393,NM_002839,NM_130391,NM_001040712,NM_130392 PTPRD,PTPRD,PTPRD,PTPRD,PTPRD,PTPRD EXON Silent,Silent,Missense_R828W,Silent,Silent,Silent exm739041 9 8497250 [T/C] NM_001171025,NM_130393,NM_002839,NM_130391,NM_001040712,NM_130392 PTPRD,PTPRD,PTPRD,PTPRD,PTPRD,PTPRD EXON Silent,Silent,Missense_T781A,Silent,Silent,Silent exm739045 9 8499717 [T/A] NM_001171025,NM_130393,NM_002839,NM_130391,NM_001040712,NM_130392 PTPRD,PTPRD,PTPRD,PTPRD,PTPRD,PTPRD EXON Silent,Silent,Missense_Y751F,Silent,Silent,Silent exm739051 9 8499805 [A/C] NM_001171025,NM_130393,NM_002839,NM_130391,NM_001040712,NM_130392 PTPRD,PTPRD,PTPRD,PTPRD,PTPRD,PTPRD EXON Silent,Silent,Missense_A722S,Silent,Silent,Silent exm739052 9 8499807 [T/A] NM_001171025,NM_130393,NM_002839,NM_130391,NM_001040712,NM_130392 PTPRD,PTPRD,PTPRD,PTPRD,PTPRD,PTPRD EXON Silent,Silent,Missense_E721V,Silent,Silent,Silent exm739065 9 8500963 [T/C] NM_001171025,NM_130393,NM_002839,NM_130391,NM_001040712,NM_130392 PTPRD,PTPRD,PTPRD,PTPRD,PTPRD,PTPRD EXON Silent,Silent,Missense_G640D,Silent,Silent,Silent exm2199468 9 8504321 [A/G] NM_001171025,NM_130393,NM_002839,NM_130391,NM_001040712,NM_130392 PTPRD,PTPRD,PTPRD,PTPRD,PTPRD,PTPRD EXON Missense_R578C,Missense_R582C,Missense_R588C,Missense_R588C,Missense_R585C,Missense_R588C exm739072 9 8504332 [T/C] NM_001171025,NM_130393,NM_002839,NM_130391,NM_001040712,NM_130392 PTPRD,PTPRD,PTPRD,PTPRD,PTPRD,PTPRD EXON Missense_R574H,Missense_R578H,Missense_R584H,Missense_R584H,Missense_R581H,Missense_R584H exm739074 9 8504338 [T/C] NM_001171025,NM_130393,NM_002839,NM_130391,NM_001040712,NM_130392 PTPRD,PTPRD,PTPRD,PTPRD,PTPRD,PTPRD EXON Missense_Y572C,Missense_Y576C,Missense_Y582C,Missense_Y582C,Missense_Y579C,Missense_Y582C exm739087 9 8517874 [T/C] NM_001171025,NM_130393,NM_002839,NM_130391,NM_001040712,NM_130392 PTPRD,PTPRD,PTPRD,PTPRD,PTPRD,PTPRD EXON Missense_D496G,Missense_D500G,Missense_D506G,Missense_D506G,Missense_D503G,Missense_D506G exm739092 9 8518052 [C/G] NM_001171025,NM_130393,NM_002839,NM_130391,NM_001040712,NM_130392 PTPRD,PTPRD,PTPRD,PTPRD,PTPRD,PTPRD EXON Missense_Q437E,Missense_Q441E,Missense_Q447E,Missense_Q447E,Missense_Q444E,Missense_Q447E exm739094 9 8518085 [A/C] NM_001171025,NM_130393,NM_002839,NM_130391,NM_001040712,NM_130392 PTPRD,PTPRD,PTPRD,PTPRD,PTPRD,PTPRD EXON Missense_V426L,Missense_V430L,Missense_V436L,Missense_V436L,Missense_V433L,Missense_V436L exm739121 9 8521513 [A/G] NM_001171025,NM_130393,NM_002839,NM_130391,NM_001040712,NM_130392 PTPRD,PTPRD,PTPRD,PTPRD,PTPRD,PTPRD EXON Missense_P232L,Missense_P236L,Missense_P242L,Missense_P242L,Missense_P239L,Missense_P242L exm2262688 9 8561542 [A/G] NM_001171025,NM_130393,NM_002839,NM_130391,NM_001040712,NM_130392 PTPRD,PTPRD,PTPRD,PTPRD,PTPRD,PTPRD Silent,Silent,Silent,Silent,Silent,Silent exm739155 9 8636758 [C/G] NM_001171025,NM_130393,NM_002839,NM_130391,NM_001040712,NM_130392 PTPRD,PTPRD,PTPRD,PTPRD,PTPRD,PTPRD EXON Missense_P51A,Missense_P51A,Missense_P51A,Missense_P51A,Missense_P51A,Missense_P51A exm739160 9 8636803 [T/C] NM_001171025,NM_130393,NM_002839,NM_130391,NM_001040712,NM_130392 PTPRD,PTPRD,PTPRD,PTPRD,PTPRD,PTPRD EXON Missense_V36I,Missense_V36I,Missense_V36I,Missense_V36I,Missense_V36I,Missense_V36I exm739162 9 8636818 [T/C] NM_001171025,NM_130393,NM_002839,NM_130391,NM_001040712,NM_130392 PTPRD,PTPRD,PTPRD,PTPRD,PTPRD,PTPRD EXON Missense_V31I,Missense_V31I,Missense_V31I,Missense_V31I,Missense_V31I,Missense_V31I exm739164 9 8733788 [A/T] NM_001171025,NM_130393,NM_002839,NM_130391,NM_001040712,NM_130392 PTPRD,PTPRD,PTPRD,PTPRD,PTPRD,PTPRD EXON Missense_D19V,Missense_D19V,Missense_D19V,Missense_D19V,Missense_D19V,Missense_D19V exm739172 9 8733833 [A/C] NM_001171025,NM_130393,NM_002839,NM_130391,NM_001040712,NM_130392 PTPRD,PTPRD,PTPRD,PTPRD,PTPRD,PTPRD EXON Missense_V4G,Missense_V4G,Missense_V4G,Missense_V4G,Missense_V4G,Missense_V4G exm-rs1975197 9 8846955 [A/G] NM_002839 PTPRD Silent exm2264360 9 8875954 [A/C] NM_002839 PTPRD Silent exm-rs17584499 9 8879118 [T/C] NM_002839 PTPRD Silent exm2264335 9 9000709 [A/C] NM_002839 PTPRD Silent exm-rs4626664 9 9261737 [A/G] NM_002839 PTPRD Silent exm-rs1333111 9 9416962 [A/G] NM_002839 PTPRD Silent exm2266790 9 9501741 [A/G] NM_002839 PTPRD Silent exm2259501 9 9770741 [T/C] NM_002839 PTPRD Silent exm-rs10816196 9 9829254 [T/G] NM_002839 PTPRD Silent exm2271166 9 10063148 [T/C] NM_002839 PTPRD Silent exm-rs439467 9 10102903 [T/C] NM_002839 PTPRD Silent exm-rs2475335 9 10260263 [T/C] NM_002839 PTPRD Silent exm-rs649891 9 10430602 [T/C] NM_002839 PTPRD Silent exm2259059 9 10480542 [A/G] NM_002839 PTPRD Silent exm-rs10756070 9 10626531 [T/G] exm2266891 9 10635939 [A/G] exm2259079 9 10928314 [T/C] exm2264336 9 11548253 [A/C] exm2271167 9 11660139 [T/G] exm2266792 9 11709025 [A/G] exm-rs10756267 9 11711459 [A/G] exm-rs6474694 9 12272705 [A/G] exm2271051 9 12367988 [T/C] exm-rs1325154 9 12582565 [T/C] exm2266892 9 12658470 [A/G] exm-rs16929332 9 12671693 [A/G] exm-rs1408799 9 12672097 [T/C] exm739179 9 12694063 [T/C] NM_000550 TYRP1 EXON Missense_R23W exm739180 9 12694066 [A/G] NM_000550 TYRP1 EXON Missense_A24T exm739182 9 12694088 [G/C] NM_000550 TYRP1 EXON Missense_A31G exm739183 9 12694094 [T/C] NM_000550 TYRP1 EXON Missense_V33A exm739194 9 12694274 [A/G] NM_000550 TYRP1 EXON Missense_R93H exm739207 9 12695565 [T/C] NM_000550 TYRP1 EXON Missense_R146W exm739208 9 12695586 [T/C] NM_000550 TYRP1 EXON Missense_R153C exm739211 9 12695626 [C/G] NM_000550 TYRP1 EXON Nonsense_S166X exm739212 9 12695694 [C/G] NM_000550 TYRP1 EXON Missense_V189L exm739219 9 12698500 [T/C] NM_000550 TYRP1 EXON Missense_T253M exm739222 9 12698527 [T/C] NM_000550 TYRP1 EXON Missense_T262M exm739223 9 12698539 [T/C] NM_000550 TYRP1 EXON Missense_M266T exm739227 9 12702272 [G/C] NM_000550 TYRP1 EXON Missense_S305R exm739232 9 12702334 [A/G] NM_000550 TYRP1 EXON Missense_R326H exm739244 9 12704561 [A/G] NM_000550 TYRP1 EXON Missense_V373I exm739246 9 12704582 [T/G] NM_000550 TYRP1 EXON Missense_A380S exm739253 9 12704706 [A/G] NM_000550 TYRP1 Silent exm739257 9 12707998 [T/C] NM_000550 TYRP1 EXON Synonymous_D421D exm739263 9 12708979 [T/C] NM_000550 TYRP1 EXON Missense_R471W exm739268 9 12709024 [A/G] NM_000550 TYRP1 EXON Missense_A486T exm739269 9 12709060 [T/C] NM_000550 TYRP1 EXON Missense_S498P exm739271 9 12709082 [A/G] NM_000550 TYRP1 EXON Missense_R505H exm739277 9 12709125 [T/G] NM_000550 TYRP1 EXON Nonsense_Y519X exm739285 9 12775770 [A/C] NM_203403 LURAP1L EXON Missense_K19T exm739287 9 12775803 [A/G] NM_203403 LURAP1L EXON Missense_G30E exm739306 9 12821406 [A/G] NM_203403 LURAP1L EXON Missense_V112I exm739312 9 12821481 [A/G] NM_203403 LURAP1L EXON Missense_T137A exm2184066 9 12821532 [A/G] NM_203403 LURAP1L EXON Missense_E154K exm739318 9 12821548 [T/C] NM_203403 LURAP1L EXON Missense_S159F exm739321 9 12821567 [A/C] NM_203403 LURAP1L EXON Missense_N165K exm739329 9 12821695 [T/C] NM_203403 LURAP1L EXON Missense_I208T exm739335 9 12821754 [T/G] NM_203403 LURAP1L EXON Missense_G228C exm2259167 9 12961631 [A/C] exm-rs1360517 9 13007129 [T/C] exm739340 9 13107001 [T/C] NM_001261407,NM_001261406,NM_003829 MPDZ,MPDZ,MPDZ EXON Missense_R1997Q,Missense_R2026Q,Missense_R2030Q exm739343 9 13107062 [T/C] NM_001261407,NM_001261406,NM_003829 MPDZ,MPDZ,MPDZ EXON Missense_A1977T,Missense_A2006T,Missense_A2010T exm739347 9 13107092 [T/C] NM_001261407,NM_001261406,NM_003829 MPDZ,MPDZ,MPDZ EXON Missense_G1967R,Missense_G1996R,Missense_G2000R exm739355 9 13109969 [A/G] NM_001261407,NM_001261406,NM_003829 MPDZ,MPDZ,MPDZ EXON Missense_I1913T,Missense_I1942T,Missense_I1946T exm739356 9 13110000 [C/G] NM_001261407,NM_001261406,NM_003829 MPDZ,MPDZ,MPDZ EXON Missense_L1903V,Missense_L1932V,Missense_L1936V exm739360 9 13110705 [T/G] NM_001261407,NM_001261406,NM_003829 MPDZ,MPDZ,MPDZ EXON Missense_S1858Y,Missense_S1887Y,Missense_S1891Y exm739364 9 13112024 [T/C] NM_001261407,NM_001261406,NM_003829 MPDZ,MPDZ,MPDZ EXON Missense_R1846K,Missense_R1875K,Missense_R1879K exm739383 9 13119542 [T/C] NM_001261407,NM_001261406,NM_003829 MPDZ,MPDZ,MPDZ EXON Missense_V1747I,Missense_V1747I,Missense_V1780I exm2275293 9 13119648 [T/C] NM_001261407,NM_001261406,NM_003829 MPDZ,MPDZ,MPDZ EXON Synonymous_R1711R,Synonymous_R1711R,Synonymous_R1744R exm739405 9 13123295 [T/C] NM_001261407,NM_001261406,NM_003829 MPDZ,MPDZ,MPDZ EXON Missense_T1571A,Missense_T1571A,Missense_T1604A exm739423 9 13133861 [T/G] NM_001261407,NM_001261406,NM_003829 MPDZ,MPDZ,MPDZ EXON Missense_S1443R,Missense_S1443R,Missense_S1476R exm739424 9 13133866 [A/T] NM_001261407,NM_001261406,NM_003829 MPDZ,MPDZ,MPDZ EXON Missense_D1441V,Missense_D1441V,Missense_D1474V exm739428 9 13136138 [G/C] NM_001261407,NM_001261406,NM_003829 MPDZ,MPDZ,MPDZ EXON Missense_A1413P,Missense_A1413P,Missense_A1446P exm739431 9 13136783 [T/C] NM_001261407,NM_001261406,NM_003829 MPDZ,MPDZ,MPDZ EXON Missense_Y1374C,Missense_Y1374C,Missense_Y1407C exm739433 9 13136798 [T/C] NM_001261407,NM_001261406,NM_003829 MPDZ,MPDZ,MPDZ EXON Missense_N1369S,Missense_N1369S,Missense_N1402S exm739446 9 13140070 [T/C] NM_001261407,NM_001261406,NM_003829 MPDZ,MPDZ,MPDZ EXON Missense_E1274K,Missense_E1274K,Missense_E1307K exm739460 9 13147602 [T/C] NM_001261407,NM_001261406,NM_003829 MPDZ,MPDZ,MPDZ EXON Missense_R1229Q,Missense_R1229Q,Missense_R1229Q exm739464 9 13150538 [G/C] NM_001261407,NM_001261406,NM_003829 MPDZ,MPDZ,MPDZ EXON Missense_T1201S,Missense_T1201S,Missense_T1201S exm739465 9 13150558 [A/C] NM_001261407,NM_001261406,NM_003829 MPDZ,MPDZ,MPDZ EXON Missense_S1194R,Missense_S1194R,Missense_S1194R exm739467 9 13150616 [T/C] NM_001261407,NM_001261406,NM_003829 MPDZ,MPDZ,MPDZ EXON Missense_R1175Q,Missense_R1175Q,Missense_R1175Q exm739468 9 13150632 [A/G] NM_001261407,NM_001261406,NM_003829 MPDZ,MPDZ,MPDZ EXON Nonsense_R1170X,Nonsense_R1170X,Nonsense_R1170X exm739470 9 13158039 [T/C] NM_001261407,NM_001261406,NM_003829 MPDZ,MPDZ,MPDZ EXON Missense_S1144G,Missense_S1144G,Missense_S1144G exm739472 9 13158062 [T/C] NM_001261407,NM_001261406,NM_003829 MPDZ,MPDZ,MPDZ EXON Missense_S1136N,Missense_S1136N,Missense_S1136N exm739484 9 13168470 [A/G] NM_001261407,NM_001261406,NM_003829 MPDZ,MPDZ,MPDZ EXON Missense_I1050T,Missense_I1050T,Missense_I1050T exm739489 9 13175774 [A/G] NM_001261407,NM_001261406,NM_003829 MPDZ,MPDZ,MPDZ EXON Missense_I1011T,Missense_I1011T,Missense_I1011T exm739495 9 13175852 [T/G] NM_001261407,NM_001261406,NM_003829 MPDZ,MPDZ,MPDZ EXON Missense_Q985P,Missense_Q985P,Missense_Q985P exm739498 9 13176152 [A/G] NM_001261407,NM_001261406,NM_003829 MPDZ,MPDZ,MPDZ EXON Missense_P972S,Missense_P972S,Missense_P972S exm739501 9 13176248 [T/C] NM_001261407,NM_001261406,NM_003829 MPDZ,MPDZ,MPDZ EXON Missense_I940V,Missense_I940V,Missense_I940V exm739502 9 13176290 [T/C] NM_001261407,NM_001261406,NM_003829 MPDZ,MPDZ,MPDZ EXON Missense_A926T,Missense_A926T,Missense_A926T exm739507 9 13176374 [T/C] NM_001261407,NM_001261406,NM_003829 MPDZ,MPDZ,MPDZ EXON Missense_M898V,Missense_M898V,Missense_M898V exm739510 9 13183464 [T/C] NM_001261407,NM_001261406,NM_003829 MPDZ,MPDZ,MPDZ EXON Missense_G868S,Missense_G868S,Missense_G868S exm739513 9 13183529 [G/C] NM_001261407,NM_001261406,NM_003829 MPDZ,MPDZ,MPDZ EXON Missense_S846C,Missense_S846C,Missense_S846C exm739516 9 13183548 [T/C] NM_001261407,NM_001261406,NM_003829 MPDZ,MPDZ,MPDZ EXON Missense_T840A,Missense_T840A,Missense_T840A exm2271168 9 13185149 [T/C] NM_001261407,NM_001261406,NM_003829 MPDZ,MPDZ,MPDZ Silent,Silent,Silent exm2186154 9 13186321 [C/G] NM_001261407,NM_001261406,NM_003829 MPDZ,MPDZ,MPDZ EXON Missense_C810S,Missense_C810S,Missense_C810S exm739524 9 13186355 [T/C] NM_001261407,NM_001261406,NM_003829 MPDZ,MPDZ,MPDZ EXON Missense_K799E,Missense_K799E,Missense_K799E exm739525 9 13188791 [T/G] NM_001261407,NM_001261406,NM_003829 MPDZ,MPDZ,MPDZ EXON Missense_P786T,Missense_P786T,Missense_P786T exm739526 9 13188803 [T/C] NM_001261407,NM_001261406,NM_003829 MPDZ,MPDZ,MPDZ EXON Missense_G782R,Missense_G782R,Missense_G782R exm739531 9 13188938 [T/C] NM_001261407,NM_001261406,NM_003829 MPDZ,MPDZ,MPDZ EXON Missense_G737S,Missense_G737S,Missense_G737S exm739532 9 13188953 [T/A] NM_001261407,NM_001261406,NM_003829 MPDZ,MPDZ,MPDZ EXON Missense_S732T,Missense_S732T,Missense_S732T exm739535 9 13190162 [T/A] NM_001261407,NM_001261406,NM_003829 MPDZ,MPDZ,MPDZ EXON Missense_E702V,Missense_E702V,Missense_E702V exm739536 9 13190163 [T/C] NM_001261407,NM_001261406,NM_003829 MPDZ,MPDZ,MPDZ EXON Missense_E702K,Missense_E702K,Missense_E702K exm739542 9 13190235 [T/A] NM_001261407,NM_001261406,NM_003829 MPDZ,MPDZ,MPDZ EXON Missense_T678S,Missense_T678S,Missense_T678S exm739546 9 13190275 [T/G] NM_001261407,NM_001261406,NM_003829 MPDZ,MPDZ,MPDZ EXON Missense_F664L,Missense_F664L,Missense_F664L exm739549 9 13190292 [T/C] NM_001261407,NM_001261406,NM_003829 MPDZ,MPDZ,MPDZ EXON Missense_V659I,Missense_V659I,Missense_V659I exm739556 9 13192201 [A/G] NM_001261407,NM_001261406,NM_003829 MPDZ,MPDZ,MPDZ EXON Nonsense_R633X,Nonsense_R633X,Nonsense_R633X exm739560 9 13192285 [T/C] NM_001261407,NM_001261406,NM_003829 MPDZ,MPDZ,MPDZ EXON Missense_I605V,Missense_I605V,Missense_I605V exm739561 9 13193230 [G/C] NM_001261407,NM_001261406,NM_003829 MPDZ,MPDZ,MPDZ EXON Missense_S580C,Missense_S580C,Missense_S580C exm739573 9 13206038 [T/C] NM_001261407,NM_001261406,NM_003829 MPDZ,MPDZ,MPDZ EXON Missense_T451A,Missense_T451A,Missense_T451A exm739575 9 13206088 [C/G] NM_001261407,NM_001261406,NM_003829 MPDZ,MPDZ,MPDZ EXON Missense_T434R,Missense_T434R,Missense_T434R exm739586 9 13219593 [A/G] NM_001261407,NM_001261406,NM_003829 MPDZ,MPDZ,MPDZ EXON Missense_L351F,Missense_L351F,Missense_L351F exm739587 9 13219603 [G/C] NM_001261407,NM_001261406,NM_003829 MPDZ,MPDZ,MPDZ EXON Missense_L347F,Missense_L347F,Missense_L347F exm739592 9 13219751 [G/C] NM_001261407,NM_001261406,NM_003829 MPDZ,MPDZ,MPDZ EXON Missense_S298T,Missense_S298T,Missense_S298T exm739598 9 13221433 [T/C] NM_001261407,NM_001261406,NM_003829 MPDZ,MPDZ,MPDZ EXON Missense_I272V,Missense_I272V,Missense_I272V exm739600 9 13221466 [C/G] NM_001261407,NM_001261406,NM_003829 MPDZ,MPDZ,MPDZ EXON Missense_V261L,Missense_V261L,Missense_V261L exm739608 9 13222321 [T/G] NM_001261407,NM_001261406,NM_003829 MPDZ,MPDZ,MPDZ EXON Missense_I220L,Missense_I220L,Missense_I220L exm739613 9 13222397 [G/C] NM_001261407,NM_001261406,NM_003829 MPDZ,MPDZ,MPDZ EXON Missense_Q194H,Missense_Q194H,Missense_Q194H exm739618 9 13223592 [G/C] NM_001261407,NM_001261406,NM_003829 MPDZ,MPDZ,MPDZ EXON Missense_Q171E,Missense_Q171E,Missense_Q171E exm739621 9 13223705 [T/C] NM_001261407,NM_001261406,NM_003829 MPDZ,MPDZ,MPDZ EXON Missense_R133H,Missense_R133H,Missense_R133H exm739622 9 13223709 [T/C] NM_001261407,NM_001261406,NM_003829 MPDZ,MPDZ,MPDZ EXON Missense_G132S,Missense_G132S,Missense_G132S exm739626 9 13224410 [G/C] NM_001261407,NM_001261406,NM_003829 MPDZ,MPDZ,MPDZ EXON Missense_C119S,Missense_C119S,Missense_C119S exm739627 9 13224417 [T/G] NM_001261407,NM_001261406,NM_003829 MPDZ,MPDZ,MPDZ EXON Missense_P117T,Missense_P117T,Missense_P117T exm739628 9 13224441 [A/C] NM_001261407,NM_001261406,NM_003829 MPDZ,MPDZ,MPDZ EXON Missense_G109C,Missense_G109C,Missense_G109C exm739632 9 13224488 [A/C] NM_001261407,NM_001261406,NM_003829 MPDZ,MPDZ,MPDZ EXON Missense_F93C,Missense_F93C,Missense_F93C exm739633 9 13224491 [A/G] NM_001261407,NM_001261406,NM_003829 MPDZ,MPDZ,MPDZ EXON Missense_S92L,Missense_S92L,Missense_S92L exm739643 9 13247724 [C/G] NM_001261407,NM_001261406,NM_003829 MPDZ,MPDZ,MPDZ EXON Missense_D31E,Missense_D31E,Missense_D31E exm739652 9 13250302 [T/C] NM_001261407,NM_001261406,NM_003829 MPDZ,MPDZ,MPDZ EXON Missense_I5V,Missense_I5V,Missense_I5V exm2259209 9 13682827 [A/G] exm739665 9 14116327 [C/G] NM_001190738,NM_001190737,NM_005596 NFIB,NFIB,NFIB EXON Silent,Missense_V422L,Silent exm739678 9 14146714 [T/C] NM_001190738,NM_001190737,NM_005596 NFIB,NFIB,NFIB EXON Missense_S326N,Missense_S300N,Missense_S300N exm2247920 9 14398561 [A/T] NM_001190738 NFIB EXON Missense_I24F exm2259256 9 14432097 [T/C] exm-rs1556032 9 14446001 [T/C] exm2266794 9 14556659 [A/G] exm2273453 9 14618930 [A/G] NM_178566 ZDHHC21 EXON Silent exm739717 9 14619043 [T/C] NM_178566 ZDHHC21 EXON Missense_R240H exm739718 9 14619085 [T/C] NM_178566 ZDHHC21 EXON Missense_R226Q exm739746 9 14662319 [T/C] NM_178566 ZDHHC21 EXON Missense_E87K exm739765 9 14720158 [A/G] NM_005454 CER1 EXON Missense_T245M exm739770 9 14720238 [C/G] NM_005454 CER1 EXON Missense_H218Q exm739771 9 14720242 [A/G] NM_005454 CER1 EXON Missense_M217T exm739789 9 14722172 [A/G] NM_005454 CER1 EXON Missense_F167L exm2247922 9 14722396 [C/G] NM_005454 CER1 EXON Missense_R92T exm739801 9 14722456 [A/C] NM_005454 CER1 EXON Missense_G72V exm739803 9 14722477 [G/C] NM_005454 CER1 EXON Missense_A65G exm739814 9 14722616 [A/G] NM_005454 CER1 EXON Missense_R19W exm739825 9 14737506 [T/G] NM_144966,NM_001177704 FREM1,FREM1 EXON Missense_Q2143P,Missense_Q679P exm739846 9 14746468 [T/C] NM_144966,NM_001177704 FREM1,FREM1 Silent,Silent exm739856 9 14747362 [T/C] NM_144966,NM_001177704 FREM1,FREM1 EXON Missense_K1970R,Missense_K506R exm739859 9 14747417 [A/T] NM_144966,NM_001177704 FREM1,FREM1 EXON Missense_I1952L,Missense_I488L exm739883 9 14759775 [T/C] NM_144966,NM_001177704 FREM1,FREM1 EXON Missense_I1777V,Missense_I313V exm739888 9 14759892 [T/G] NM_144966,NM_001177704 FREM1,FREM1 EXON Missense_L1738M,Missense_L274M exm739897 9 14769797 [A/G] NM_144966,NM_001177704 FREM1,FREM1 EXON Missense_P1710L,Missense_P246L exm739898 9 14769803 [A/G] NM_144966,NM_001177704 FREM1,FREM1 EXON Missense_I1708T,Missense_I244T exm739916 9 14770787 [T/G] NM_144966,NM_001177704 FREM1,FREM1 EXON Missense_K1625N,Missense_K161N exm2192218 9 14770803 [A/G] NM_144966,NM_001177704 FREM1,FREM1 EXON Missense_V1620A,Missense_V156A exm739933 9 14775917 [T/A] NM_144966,NM_001177704 FREM1,FREM1 EXON Missense_N1576I,Missense_N112I exm739934 9 14775933 [T/C] NM_144966,NM_001177704 FREM1,FREM1 EXON Missense_D1571N,Missense_D107N exm739939 9 14776080 [T/C] NM_144966,NM_001177704 FREM1,FREM1 EXON Missense_V1522M,Missense_V58M exm739943 9 14776140 [T/C] NM_144966,NM_001177704 FREM1,FREM1 EXON Missense_V1502M,Missense_V38M exm739947 9 14776178 [T/C] NM_144966,NM_001177704 FREM1,FREM1 EXON Missense_R1489Q,Missense_R25Q exm739950 9 14784389 [A/G] NM_144966 FREM1 EXON Missense_T1474I exm739952 9 14784398 [T/C] NM_144966 FREM1 EXON Missense_S1471N exm739969 9 14789071 [C/G] NM_144966 FREM1 EXON Missense_C1341W exm2247927 9 14792790 [A/G] NM_144966 FREM1 EXON Missense_I1311T exm739975 9 14792848 [A/G] NM_144966 FREM1 EXON Missense_R1292C exm739978 9 14797516 [T/A] NM_144966 FREM1 EXON Missense_D1273E exm739987 9 14801710 [A/C] NM_144966 FREM1 EXON Missense_A1212S exm739988 9 14801713 [A/G] NM_144966 FREM1 EXON Missense_P1211S exm2192243 9 14801730 [T/A] NM_144966 FREM1 EXON Missense_F1205Y exm739989 9 14801738 [C/G] NM_144966 FREM1 EXON Missense_S1202R exm739993 9 14801769 [T/C] NM_144966 FREM1 EXON Missense_R1192H exm739996 9 14801802 [A/T] NM_144966 FREM1 EXON Missense_D1181V exm739997 9 14801859 [T/C] NM_144966 FREM1 EXON Missense_Q1162R exm739999 9 14801866 [T/C] NM_144966 FREM1 EXON Missense_E1160K exm740007 9 14805019 [G/C] NM_144966 FREM1 EXON Missense_P1136A exm740008 9 14805021 [A/G] NM_144966 FREM1 EXON Missense_I1135T exm740013 9 14805066 [A/T] NM_144966 FREM1 EXON Missense_Q1120L exm740015 9 14805094 [A/G] NM_144966 FREM1 EXON Missense_H1111Y exm740020 9 14806740 [T/C] NM_144966 FREM1 EXON Missense_V1065I exm740021 9 14806787 [G/C] NM_144966 FREM1 EXON Missense_S1049C exm740038 9 14812854 [G/C] NM_144966 FREM1 EXON Missense_S950C exm740049 9 14813049 [T/C] NM_144966 FREM1 EXON Missense_N885S exm740059 9 14819328 [T/C] NM_144966 FREM1 EXON Missense_R817Q exm740060 9 14819370 [T/G] NM_144966 FREM1 EXON Missense_S803Y exm740067 9 14819439 [A/G] NM_144966 FREM1 EXON Missense_A780V exm740072 9 14823283 [C/G] NM_144966 FREM1 EXON Missense_Q738E exm740093 9 14824988 [T/C] NM_144966 FREM1 EXON Synonymous_V628V exm2259258 9 14824988 [T/C] NM_144966 FREM1 EXON Synonymous_V628V exm740101 9 14842412 [C/G] NM_144966 FREM1 EXON Missense_A547G exm740106 9 14842532 [T/C] NM_144966 FREM1 EXON Missense_R507H exm740110 9 14842557 [T/C] NM_144966 FREM1 EXON Missense_I499V exm740112 9 14842560 [A/G] NM_144966 FREM1 EXON Missense_R498W exm740121 9 14842658 [G/C] NM_144966 FREM1 EXON Missense_G465A exm740124 9 14846006 [A/G] NM_144966 FREM1 EXON Missense_R449W exm740128 9 14846036 [C/G] NM_144966 FREM1 EXON Missense_V439L exm740129 9 14846043 [C/G] NM_144966 FREM1 EXON Missense_Q436H exm740132 9 14848740 [T/G] NM_144966 FREM1 EXON Missense_E395A exm740147 9 14857584 [T/G] NM_144966 FREM1 EXON Missense_D265E exm740157 9 14857744 [A/C] NM_144966 FREM1 EXON Missense_L212R exm740161 9 14859219 [C/G] NM_144966 FREM1 EXON Missense_P198R exm740166 9 14859262 [T/C] NM_144966 FREM1 EXON Missense_A184T exm740168 9 14859271 [A/G] NM_144966 FREM1 EXON Missense_R181W exm740169 9 14859279 [A/G] NM_144966 FREM1 EXON Missense_A178V exm2259259 9 14859296 [A/G] NM_144966 FREM1 EXON Synonymous_T172T exm740175 9 14859401 [A/C] NM_144966 FREM1 EXON Missense_M137I exm740179 9 14863863 [A/G] NM_144966 FREM1 EXON Synonymous_Y91Y exm2259260 9 14863863 [A/G] NM_144966 FREM1 EXON Synonymous_Y91Y exm740188 9 14868942 [T/C] NM_144966 FREM1 EXON Missense_V12M exm740191 9 14868968 [A/G] NM_144966 FREM1 EXON Missense_S3F exm-rs10961780 9 14898161 [T/G] NM_144966 FREM1 Silent exm2262614 9 15085778 [A/G] exm-rs1780159 9 15157977 [T/C] exm740198 9 15175039 [T/C] NM_001168340,NM_001168341,NM_001168339,NM_152574,NM_001168342 TTC39B,TTC39B,TTC39B,TTC39B,TTC39B EXON Missense_I633V,Missense_I577V,Missense_I644V,Missense_I646V,Missense_I481V exm740199 9 15175042 [T/C] NM_001168340,NM_001168341,NM_001168339,NM_152574,NM_001168342 TTC39B,TTC39B,TTC39B,TTC39B,TTC39B EXON Missense_A632T,Missense_A576T,Missense_A643T,Missense_A645T,Missense_A480T exm740203 9 15175098 [A/G] NM_001168340,NM_001168341,NM_001168339,NM_152574,NM_001168342 TTC39B,TTC39B,TTC39B,TTC39B,TTC39B EXON Missense_P613L,Missense_P557L,Missense_P624L,Missense_P626L,Missense_P461L exm740221 9 15186958 [T/C] NM_001168340,NM_001168341,NM_001168339,NM_152574,NM_001168342 TTC39B,TTC39B,TTC39B,TTC39B,TTC39B EXON Missense_V478M,Missense_V422M,Missense_V489M,Missense_V491M,Missense_V326M exm740224 9 15187992 [T/A] NM_001168340,NM_001168341,NM_001168339,NM_152574,NM_001168342 TTC39B,TTC39B,TTC39B,TTC39B,TTC39B EXON Missense_C445S,Missense_C389S,Missense_C456S,Missense_C458S,Missense_C293S exm740226 9 15188046 [T/C] NM_001168340,NM_001168341,NM_001168339,NM_152574,NM_001168342 TTC39B,TTC39B,TTC39B,TTC39B,TTC39B EXON Missense_I427V,Missense_I371V,Missense_I438V,Missense_I440V,Missense_I275V exm740230 9 15188064 [A/G] NM_001168340,NM_001168341,NM_001168339,NM_152574,NM_001168342 TTC39B,TTC39B,TTC39B,TTC39B,TTC39B EXON Missense_Y421H,Missense_Y365H,Missense_Y432H,Missense_Y434H,Missense_Y269H exm740232 9 15188093 [T/C] NM_001168340,NM_001168341,NM_001168339,NM_152574,NM_001168342 TTC39B,TTC39B,TTC39B,TTC39B,TTC39B EXON Missense_E411G,Missense_E355G,Missense_E422G,Missense_E424G,Missense_E259G exm740234 9 15188106 [T/C] NM_001168340,NM_001168341,NM_001168339,NM_152574,NM_001168342 TTC39B,TTC39B,TTC39B,TTC39B,TTC39B EXON Missense_I407V,Missense_I351V,Missense_I418V,Missense_I420V,Missense_I255V exm740244 9 15189719 [A/G] NM_001168340,NM_001168341,NM_001168339,NM_152574,NM_001168342 TTC39B,TTC39B,TTC39B,TTC39B,TTC39B EXON Missense_R393C,Silent,Silent,Silent,Silent exm740254 9 15190623 [C/G] NM_001168340,NM_001168341,NM_001168339,NM_152574,NM_001168342 TTC39B,TTC39B,TTC39B,TTC39B,TTC39B EXON Missense_G345A,Missense_G276A,Missense_G343A,Missense_G345A,Missense_G180A exm740273 9 15210131 [A/C] NM_001168340,NM_001168341,NM_001168339,NM_152574,NM_001168342 TTC39B,TTC39B,TTC39B,TTC39B,TTC39B EXON Missense_F216V,Missense_F147V,Missense_F214V,Missense_F216V,Missense_F51V exm740277 9 15211282 [T/G] NM_001168340,NM_001168341,NM_001168339,NM_152574,NM_001168342 TTC39B,TTC39B,TTC39B,TTC39B,TTC39B EXON Missense_A199D,Missense_A130D,Missense_A199D,Missense_A199D,Missense_A34D exm740281 9 15211342 [T/C] NM_001168340,NM_001168341,NM_001168339,NM_152574,NM_001168342 TTC39B,TTC39B,TTC39B,TTC39B,TTC39B EXON Missense_Q179R,Missense_Q110R,Missense_Q179R,Missense_Q179R,Missense_Q14R exm740283 9 15211380 [T/C] NM_001168340,NM_001168341,NM_001168339,NM_152574,NM_001168342 TTC39B,TTC39B,TTC39B,TTC39B,TTC39B EXON Missense_M166I,Missense_M97I,Missense_M166I,Missense_M166I,Missense_M1I exm740289 9 15214191 [T/A] NM_001168340,NM_001168341,NM_001168339,NM_152574,NM_001168342 TTC39B,TTC39B,TTC39B,TTC39B,TTC39B EXON Nonsense_L143X,Silent,Nonsense_L143X,Nonsense_L143X,Silent exm740291 9 15214237 [T/G] NM_001168340,NM_001168341,NM_001168339,NM_152574,NM_001168342 TTC39B,TTC39B,TTC39B,TTC39B,TTC39B EXON Missense_T128P,Silent,Missense_T128P,Missense_T128P,Silent exm-rs471364 9 15289578 [T/C] NM_001168340,NM_001168341,NM_001168339,NM_152574 TTC39B,TTC39B,TTC39B,TTC39B Silent,Silent,Silent,Silent exm2259262 9 15295505 [T/C] NM_001168340,NM_001168341,NM_001168339,NM_152574 TTC39B,TTC39B,TTC39B,TTC39B Silent,Silent,Silent,Silent exm-rs643531 9 15296034 [A/C] NM_001168340,NM_001168341,NM_001168339,NM_152574 TTC39B,TTC39B,TTC39B,TTC39B Silent,Silent,Silent,Silent exm-rs581080 9 15305378 [G/C] NM_001168340,NM_001168341,NM_001168339,NM_152574 TTC39B,TTC39B,TTC39B,TTC39B Silent,Silent,Silent,Silent exm740312 9 15307224 [A/G] NM_001168340,NM_001168341,NM_001168339,NM_152574 TTC39B,TTC39B,TTC39B,TTC39B EXON Missense_P33L,Missense_P33L,Missense_P33L,Missense_P33L exm740322 9 15422957 [A/G] NM_001039697 SNAPC3 EXON Missense_C27Y exm740323 9 15422960 [A/G] NM_001039697 SNAPC3 EXON Missense_N28S exm2192352 9 15444648 [A/G] NM_001039697 SNAPC3 EXON Missense_E176K exm740348 9 15447191 [T/G] NM_001039697 SNAPC3 EXON Missense_I227M exm740354 9 15451379 [A/C] NM_001039697 SNAPC3 EXON Missense_P265Q exm2192361 9 15453153 [A/C] NM_001039697 SNAPC3 EXON Missense_L310F exm740366 9 15453178 [G/C] NM_001039697 SNAPC3 EXON Missense_H319D exm740374 9 15459730 [A/C] NM_001039697 SNAPC3 EXON Missense_N368H exm740378 9 15459761 [T/G] NM_001039697 SNAPC3 EXON Missense_F378C exm740382 9 15459821 [A/C] NM_001039697 SNAPC3 EXON Missense_E398A exm740396 9 15466828 [G/C] NM_001128217,NM_033222 PSIP1,PSIP1 EXON Missense_A484P,Missense_A484P exm740397 9 15466846 [C/G] NM_001128217,NM_033222 PSIP1,PSIP1 EXON Missense_L478V,Missense_L478V exm740400 9 15468633 [A/T] NM_001128217,NM_033222 PSIP1,PSIP1 EXON Missense_Q472L,Missense_Q472L exm740421 9 15472678 [T/G] NM_001128217,NM_033222,NM_021144 PSIP1,PSIP1,PSIP1 EXON Missense_E310A,Missense_E310A,Missense_E310A exm740424 9 15474032 [T/C] NM_001128217,NM_033222,NM_021144 PSIP1,PSIP1,PSIP1 EXON Missense_E278G,Missense_E278G,Missense_E278G exm740425 9 15474104 [T/C] NM_001128217,NM_033222,NM_021144 PSIP1,PSIP1,PSIP1 EXON Missense_K254R,Missense_K254R,Missense_K254R exm740427 9 15474122 [A/G] NM_001128217,NM_033222,NM_021144 PSIP1,PSIP1,PSIP1 EXON Missense_P248L,Missense_P248L,Missense_P248L exm740429 9 15474215 [A/C] NM_001128217,NM_033222,NM_021144 PSIP1,PSIP1,PSIP1 EXON Missense_S217I,Missense_S217I,Missense_S217I exm740448 9 15486874 [G/C] NM_001128217,NM_033222,NM_021144 PSIP1,PSIP1,PSIP1 EXON Missense_T115S,Missense_T115S,Missense_T115S exm2192414 9 15490118 [A/G] NM_001128217,NM_033222,NM_021144 PSIP1,PSIP1,PSIP1 EXON Missense_F52L,Missense_F52L,Missense_F52L exm740459 9 15564100 [T/C] NM_173550 CCDC171 EXON Missense_T5I exm740461 9 15564102 [T/G] NM_173550 CCDC171 EXON Missense_S6A exm740465 9 15571630 [A/T] NM_173550 CCDC171 EXON Missense_I17N exm740471 9 15571755 [A/G] NM_173550 CCDC171 EXON Missense_E59K exm740474 9 15578847 [T/C] NM_173550 CCDC171 EXON Synonymous_L60L exm740477 9 15578863 [A/G] NM_173550 CCDC171 EXON Missense_S65N exm740481 9 15578890 [T/C] NM_173550 CCDC171 EXON Missense_V74A exm740482 9 15578896 [A/T] NM_173550 CCDC171 EXON Missense_K76M exm740483 9 15578943 [A/G] NM_173550 CCDC171 EXON Missense_R92G exm740485 9 15578967 [T/C] NM_173550 CCDC171 EXON Missense_R100W exm740491 9 15591372 [A/T] NM_173550 CCDC171 EXON Missense_S121T exm740498 9 15591502 [A/G] NM_173550 CCDC171 EXON Missense_R164Q exm740507 9 15623293 [A/G] NM_173550 CCDC171 EXON Missense_H235R exm740512 9 15623349 [T/C] NM_173550 CCDC171 EXON Nonsense_R254X exm740521 9 15657180 [C/G] NM_173550 CCDC171 EXON Missense_A293G exm740523 9 15657213 [T/C] NM_173550 CCDC171 EXON Missense_I304T exm2192445 9 15678889 [A/G] NM_173550 CCDC171 EXON Missense_V404I exm740540 9 15695245 [G/C] NM_173550 CCDC171 EXON Missense_Q410E exm740541 9 15695278 [A/G] NM_173550 CCDC171 EXON Missense_V421M exm740550 9 15723682 [A/C] NM_173550 CCDC171 EXON Missense_K477Q exm740556 9 15723737 [T/A] NM_173550 CCDC171 EXON Missense_N495I exm740558 9 15724780 [T/C] NM_173550 CCDC171 EXON Nonsense_Q500X exm740562 9 15724872 [A/C] NM_173550 CCDC171 EXON Missense_E530D exm740563 9 15724882 [A/G] NM_173550 CCDC171 EXON Missense_V534M exm740568 9 15727916 [T/G] NM_173550 CCDC171 EXON Missense_C581F exm740571 9 15728029 [C/G] NM_173550 CCDC171 EXON Missense_E619Q exm740573 9 15729613 [T/G] NM_173550 CCDC171 EXON Missense_R622S exm740578 9 15729695 [A/G] NM_173550 CCDC171 EXON Missense_A650T exm740583 9 15744329 [A/G] NM_173550 CCDC171 EXON Missense_H703R exm740584 9 15744337 [T/C] NM_173550 CCDC171 EXON Synonymous_L706L exm2259263 9 15744337 [T/C] NM_173550 CCDC171 EXON Synonymous_L706L exm2263474 9 15744431 [G/C] NM_173550 CCDC171 EXON Missense_A737G exm2192465 9 15744607 [A/G] NM_173550 CCDC171 EXON Missense_G796R exm2192466 9 15744656 [A/G] NM_173550 CCDC171 EXON Missense_N812S exm740606 9 15744683 [A/G] NM_173550 CCDC171 EXON Missense_C821Y exm2247941 9 15744755 [A/G] NM_173550 CCDC171 EXON Missense_Q845R exm2263476 9 15744757 [C/G] NM_173550 CCDC171 EXON Missense_D846H exm740608 9 15744758 [A/G] NM_173550 CCDC171 EXON Missense_D846G exm740612 9 15745587 [A/G] NM_173550 CCDC171 EXON Missense_I877V exm740616 9 15777640 [G/C] NM_173550 CCDC171 EXON Missense_A905G exm740618 9 15777709 [C/G] NM_173550 CCDC171 EXON Missense_S928T exm740625 9 15777823 [T/C] NM_173550 CCDC171 EXON Missense_T966M exm740637 9 15779143 [T/C] NM_173550 CCDC171 EXON Nonsense_Q1026X exm740651 9 15784631 [A/G] NM_173550 CCDC171 EXON Missense_K1069R exm740654 9 15784692 [C/G] NM_173550 CCDC171 EXON Missense_K1089N exm2271054 9 15799343 [T/C] NM_173550 CCDC171 Silent exm740664 9 15846794 [A/G] NM_173550 CCDC171 EXON Missense_R1121Q exm740675 9 15874585 [T/G] NM_173550 CCDC171 EXON Missense_L1175R exm2192491 9 15874593 [T/C] NM_173550 CCDC171 EXON Missense_P1178S exm740679 9 15874622 [T/G] NM_173550 CCDC171 EXON Missense_M1187I exm740696 9 15971815 [G/C] NM_173550 CCDC171 EXON Missense_P1321R exm-rs1927702 9 15986716 [T/C] exm2271170 9 16127905 [T/G] exm-rs7864648 9 16368732 [T/G] exm2273454 9 16418970 [T/C] NM_017637 BNC2 EXON Silent exm740713 9 16419270 [A/G] NM_017637 BNC2 EXON Missense_A1006V exm740715 9 16419297 [T/C] NM_017637 BNC2 EXON Missense_S997N exm740720 9 16419367 [T/C] NM_017637 BNC2 EXON Missense_I974V exm740723 9 16419498 [T/C] NM_017637 BNC2 EXON Missense_D930G exm740724 9 16419499 [T/C] NM_017637 BNC2 EXON Missense_D930N exm740726 9 16419519 [A/G] NM_017637 BNC2 EXON Missense_A923V exm740729 9 16419527 [T/C] NM_017637 BNC2 EXON Missense_I920M exm740732 9 16419554 [T/G] NM_017637 BNC2 EXON Missense_D911E exm2192511 9 16435821 [A/G] NM_017637 BNC2 EXON Missense_Y791H exm740757 9 16435848 [T/C] NM_017637 BNC2 EXON Missense_T782A exm740759 9 16435888 [T/G] NM_017637 BNC2 EXON Missense_H768Q exm740760 9 16435902 [T/C] NM_017637 BNC2 EXON Missense_S764G exm740767 9 16436033 [T/C] NM_017637 BNC2 EXON Missense_R720Q exm740778 9 16436244 [T/C] NM_017637 BNC2 EXON Missense_A650T exm740784 9 16436375 [A/G] NM_017637 BNC2 EXON Missense_P606L exm740785 9 16436391 [T/C] NM_017637 BNC2 EXON Missense_I601V exm740790 9 16436544 [A/C] NM_017637 BNC2 EXON Missense_L550V exm740803 9 16436905 [T/C] NM_017637 BNC2 EXON Missense_M429I exm740805 9 16436948 [A/G] NM_017637 BNC2 EXON Missense_T415I exm740814 9 16437044 [T/C] NM_017637 BNC2 EXON Missense_N383S exm740822 9 16437210 [T/C] NM_017637 BNC2 EXON Missense_I328V exm740826 9 16437276 [G/C] NM_017637 BNC2 EXON Missense_P306A exm740854 9 16727954 [A/C] NM_017637 BNC2 EXON Missense_Q57H exm740855 9 16727958 [G/C] NM_017637 BNC2 EXON Missense_T56R exm740859 9 16738389 [A/G] NM_017637 BNC2 EXON Missense_P33L exm740861 9 16738423 [T/C] NM_017637 BNC2 EXON Missense_S22G exm2271171 9 16795286 [T/C] NM_017637 BNC2 Silent exm-rs2153271 9 16864521 [T/C] NM_017637 BNC2 Silent exm-rs3927680 9 16887366 [A/T] exm-rs4436220 9 16894953 [T/C] exm-rs3814113 9 16915021 [T/C] exm2259266 9 16942901 [T/C] exm740884 9 17135286 [A/G] NM_017738,NM_001114395 CNTLN,CNTLN EXON Missense_A75T,Missense_A75T exm740885 9 17135298 [G/C] NM_017738,NM_001114395 CNTLN,CNTLN EXON Missense_L79V,Missense_L79V exm740886 9 17135315 [T/G] NM_017738,NM_001114395 CNTLN,CNTLN EXON Missense_M84I,Missense_M84I exm740889 9 17135368 [T/C] NM_017738,NM_001114395 CNTLN,CNTLN EXON Missense_T102M,Missense_T102M exm740907 9 17235710 [A/G] NM_017738,NM_001114395 CNTLN,CNTLN EXON Missense_V197I,Missense_V197I exm740911 9 17235770 [C/G] NM_017738,NM_001114395 CNTLN,CNTLN EXON Missense_D217H,Missense_D217H exm2247947 9 17236575 [A/G] NM_017738,NM_001114395 CNTLN,CNTLN EXON Missense_A280T,Missense_A280T exm740922 9 17273731 [A/G] NM_017738,NM_001114395 CNTLN,CNTLN EXON Missense_T284A,Missense_T284A exm740925 9 17273754 [A/C] NM_017738,NM_001114395 CNTLN,CNTLN EXON Missense_E291D,Missense_E291D exm740926 9 17273794 [T/G] NM_017738,NM_001114395 CNTLN,CNTLN EXON Missense_A305S,Missense_A305S exm740929 9 17273800 [T/C] NM_017738,NM_001114395 CNTLN,CNTLN EXON Missense_S307P,Missense_S307P exm740936 9 17298289 [T/C] NM_017738,NM_001114395 CNTLN,CNTLN EXON Missense_T362I,Missense_T362I exm740937 9 17298291 [T/C] NM_017738,NM_001114395 CNTLN,CNTLN EXON Nonsense_Q363X,Nonsense_Q363X exm740946 9 17309108 [T/C] NM_017738 CNTLN EXON Missense_M400T exm740947 9 17309113 [T/C] NM_017738 CNTLN EXON Missense_R402W exm2192573 9 17309120 [A/G] NM_017738 CNTLN EXON Missense_S404N exm740956 9 17330730 [A/C] NM_017738 CNTLN EXON Missense_K481T exm740962 9 17340839 [A/T] NM_017738 CNTLN EXON Missense_D553E exm740964 9 17340864 [T/C] NM_017738 CNTLN EXON Missense_R562C exm740965 9 17340873 [T/C] NM_017738 CNTLN EXON Missense_R565W exm740979 9 17366653 [A/G] NM_017738 CNTLN EXON Missense_H642R exm740981 9 17366655 [A/G] NM_017738 CNTLN EXON Missense_I643V exm740983 9 17366694 [T/C] NM_017738 CNTLN EXON Missense_C656R exm740985 9 17388195 [A/G] NM_017738 CNTLN EXON Missense_K675E exm740989 9 17394536 [T/C] NM_017738 CNTLN EXON Missense_T695I exm740995 9 17394682 [G/C] NM_017738 CNTLN EXON Missense_E744Q exm741014 9 17394946 [T/G] NM_017738 CNTLN EXON Missense_A832S exm741015 9 17394950 [T/C] NM_017738 CNTLN EXON Missense_A833V exm741017 9 17394973 [T/C] NM_017738 CNTLN EXON Missense_R841C exm741020 9 17394994 [T/C] NM_017738 CNTLN EXON Missense_H848Y exm741035 9 17409391 [A/G] NM_017738 CNTLN EXON Missense_S906G exm741036 9 17415825 [A/C] NM_017738 CNTLN EXON Missense_Q946K exm741038 9 17415847 [A/G] NM_017738 CNTLN EXON Missense_Q953R exm2192619 9 17415876 [A/G] NM_017738 CNTLN EXON Missense_R963G exm741040 9 17415987 [A/G] NM_017738 CNTLN EXON Missense_I972V exm741041 9 17416026 [T/C] NM_017738 CNTLN EXON Nonsense_R985X exm741042 9 17416033 [A/G] NM_017738 CNTLN EXON Missense_R987Q exm741044 9 17416134 [T/C] NM_017738 CNTLN EXON Missense_H1021Y exm741047 9 17416158 [T/C] NM_017738 CNTLN EXON Nonsense_R1029X exm741050 9 17457549 [T/C] NM_017738 CNTLN EXON Missense_R1048W exm741051 9 17457550 [A/G] NM_017738 CNTLN EXON Missense_R1048Q exm741054 9 17457639 [T/C] NM_017738 CNTLN EXON Missense_R1078W exm741060 9 17462978 [G/C] NM_017738 CNTLN EXON Missense_A1124G exm741061 9 17462985 [A/C] NM_017738 CNTLN EXON Missense_E1126D exm741062 9 17462992 [A/G] NM_017738 CNTLN EXON Missense_I1129V exm741071 9 17464622 [A/G] NM_017738 CNTLN Silent exm741081 9 17484293 [G/C] NM_017738 CNTLN EXON Missense_A1286P exm741086 9 17484336 [A/G] NM_017738 CNTLN EXON Missense_R1300Q exm741087 9 17484338 [A/C] NM_017738 CNTLN EXON Missense_Q1301K exm741092 9 17486992 [T/G] NM_017738 CNTLN EXON Missense_I1349M exm2271172 9 17502205 [T/G] NM_017738 CNTLN Silent exm-rs10491539 9 17708814 [T/G] NM_003026 SH3GL2 Silent exm2259268 9 17736342 [T/G] NM_003026 SH3GL2 Silent exm2247950 9 17791265 [A/G] NM_003026 SH3GL2 EXON Missense_A221T exm2192666 9 17791314 [T/C] NM_003026 SH3GL2 EXON Missense_T237M exm741144 9 17793435 [A/G] NM_003026 SH3GL2 EXON Missense_T267A exm741146 9 17793463 [T/G] NM_003026 SH3GL2 EXON Missense_G276V exm741152 9 17795580 [A/G] NM_003026 SH3GL2 EXON Missense_D300N exm-rs10810865 9 17895105 [T/C] exm-rs1755289 9 17938351 [T/C] exm-rs2210327 9 18109235 [T/A] exm2262618 9 18125966 [T/C] exm-rs10810942 9 18280143 [A/G] exm2259271 9 18323073 [A/G] exm741179 9 18504954 [A/G] NM_052866,NM_001040272 ADAMTSL1,ADAMTSL1 EXON Missense_K64R,Missense_K64R exm741182 9 18533268 [A/G] NM_052866,NM_001040272 ADAMTSL1,ADAMTSL1 EXON Missense_R72Q,Missense_R72Q exm2192688 9 18574095 [A/G] NM_052866,NM_001040272 ADAMTSL1,ADAMTSL1 EXON Missense_H102R,Missense_H102R exm2247952 9 18574133 [A/C] NM_052866,NM_001040272 ADAMTSL1,ADAMTSL1 EXON Missense_P115T,Missense_P115T exm741202 9 18574181 [T/G] NM_052866,NM_001040272 ADAMTSL1,ADAMTSL1 EXON Missense_V131F,Missense_V131F exm741213 9 18622274 [A/G] NM_052866,NM_001040272 ADAMTSL1,ADAMTSL1 EXON Missense_V170I,Missense_V170I exm741219 9 18622358 [A/G] NM_052866,NM_001040272 ADAMTSL1,ADAMTSL1 EXON Missense_A198T,Missense_A198T exm741230 9 18635941 [T/C] NM_052866,NM_001040272 ADAMTSL1,ADAMTSL1 EXON Missense_S201L,Missense_S201L exm741233 9 18635986 [A/G] NM_052866,NM_001040272 ADAMTSL1,ADAMTSL1 EXON Missense_R216H,Missense_R216H exm741236 9 18639275 [C/G] NM_052866,NM_001040272 ADAMTSL1,ADAMTSL1 EXON Missense_G234R,Missense_G234R exm741237 9 18639300 [A/G] NM_052866,NM_001040272 ADAMTSL1,ADAMTSL1 EXON Missense_S242N,Missense_S242N exm741240 9 18639357 [A/G] NM_052866,NM_001040272 ADAMTSL1,ADAMTSL1 EXON Missense_D261G,Missense_D261G exm2247954 9 18657647 [T/C] NM_052866,NM_001040272 ADAMTSL1,ADAMTSL1 EXON Missense_S282L,Missense_S282L exm741257 9 18661978 [A/G] NM_052866,NM_001040272 ADAMTSL1,ADAMTSL1 EXON Missense_R331H,Missense_R331H exm741259 9 18661995 [T/G] NM_052866,NM_001040272 ADAMTSL1,ADAMTSL1 EXON Missense_Y337D,Missense_Y337D exm2192713 9 18680451 [T/G] NM_052866,NM_001040272 ADAMTSL1,ADAMTSL1 EXON Missense_M426I,Missense_M426I exm741284 9 18680474 [T/C] NM_052866,NM_001040272 ADAMTSL1,ADAMTSL1 EXON Missense_I434T,Missense_I434T exm741294 9 18681880 [A/C] NM_052866,NM_001040272 ADAMTSL1,ADAMTSL1 EXON Missense_T471K,Missense_T471K exm741299 9 18684731 [T/G] NM_052866,NM_001040272 ADAMTSL1,ADAMTSL1 EXON Missense_A503S,Missense_A503S exm741311 9 18706845 [A/G] NM_001040272 ADAMTSL1 EXON Missense_V559M exm741316 9 18706950 [A/G] NM_001040272 ADAMTSL1 EXON Missense_E594K exm741317 9 18706971 [C/G] NM_001040272 ADAMTSL1 EXON Missense_G601R exm741321 9 18721567 [A/G] NM_001040272 ADAMTSL1 EXON Missense_K637R exm2276045 9 18721580 [C/G] NM_001040272 ADAMTSL1 EXON Missense_E641D exm741322 9 18721584 [A/G] NM_001040272 ADAMTSL1 EXON Missense_A643T exm741323 9 18721612 [A/G] NM_001040272 ADAMTSL1 EXON Missense_R652H exm741324 9 18721615 [A/G] NM_001040272 ADAMTSL1 EXON Missense_R653Q exm741325 9 18721642 [A/G] NM_001040272 ADAMTSL1 EXON Missense_N662S exm741333 9 18753306 [A/G] NM_001040272 ADAMTSL1 EXON Missense_G673S exm741335 9 18753394 [A/C] NM_001040272 ADAMTSL1 EXON Missense_N702T exm741342 9 18753505 [T/C] NM_001040272 ADAMTSL1 EXON Missense_P739L exm741351 9 18775826 [A/G] NM_001040272 ADAMTSL1 EXON Missense_N828S exm741352 9 18775844 [T/C] NM_001040272 ADAMTSL1 EXON Missense_P834L exm741353 9 18775868 [A/G] NM_001040272 ADAMTSL1 EXON Missense_R842K exm741356 9 18776784 [A/G] NM_001040272 ADAMTSL1 EXON Missense_G853R exm741359 9 18776826 [A/G] NM_001040272 ADAMTSL1 EXON Missense_R867G exm741362 9 18776931 [T/C] NM_001040272 ADAMTSL1 EXON Missense_R902C exm2247957 9 18776971 [A/G] NM_001040272 ADAMTSL1 EXON Missense_G915D exm741368 9 18776997 [A/G] NM_001040272 ADAMTSL1 EXON Missense_V924I exm2259272 9 18777227 [T/G] NM_001040272 ADAMTSL1 EXON Synonymous_G1000G exm741388 9 18777268 [T/C] NM_001040272 ADAMTSL1 EXON Missense_A1014V exm741407 9 18777601 [A/G] NM_001040272 ADAMTSL1 EXON Missense_R1125H exm741410 9 18777706 [A/C] NM_001040272 ADAMTSL1 EXON Missense_P1160Q exm741414 9 18777790 [T/C] NM_001040272 ADAMTSL1 EXON Missense_T1188M exm741416 9 18777841 [T/C] NM_001040272 ADAMTSL1 EXON Missense_I1205T exm741421 9 18795469 [A/G] NM_001040272 ADAMTSL1 EXON Missense_N1251S exm741429 9 18817211 [A/G] NM_001040272 ADAMTSL1 EXON Missense_V1304M exm2192767 9 18826311 [A/G] NM_001040272 ADAMTSL1 EXON Missense_R1322G exm741430 9 18826314 [A/C] NM_001040272 ADAMTSL1 EXON Missense_N1323H exm741441 9 18829952 [A/G] NM_001040272 ADAMTSL1 EXON Missense_D1409G exm741446 9 18887930 [A/G] NM_001040272 ADAMTSL1 EXON Missense_G1451R exm2192780 9 18887960 [A/G] NM_001040272 ADAMTSL1 EXON Missense_G1461S exm2192788 9 18889583 [A/G] NM_001040272 ADAMTSL1 EXON Missense_D1494N exm741462 9 18892434 [A/G] NM_001040272 ADAMTSL1 EXON Missense_G1564D exm741466 9 18892520 [A/G] NM_001040272 ADAMTSL1 EXON Missense_A1593T exm2192797 9 18892552 [C/G] NM_001040272 ADAMTSL1 EXON Missense_N1603K exm741470 9 18905795 [A/G] NM_001040272 ADAMTSL1 EXON Missense_I1623V exm741471 9 18905802 [T/C] NM_001040272 ADAMTSL1 EXON Missense_P1625L exm741474 9 18905843 [T/C] NM_001040272 ADAMTSL1 EXON Missense_R1639W exm741478 9 18906690 [A/G] NM_001040272 ADAMTSL1 EXON Synonymous_R1654R exm741480 9 18906715 [T/C] NM_001040272 ADAMTSL1 EXON Missense_S1663P exm741488 9 18906821 [A/G] NM_001040272 ADAMTSL1 EXON Missense_R1698H exm741499 9 18908462 [G/C] NM_001040272 ADAMTSL1 EXON Missense_R1735S exm2264361 9 18920357 [A/C] exm741510 9 18928083 [T/G] NM_153707 FAM154A EXON Missense_N464K exm741514 9 18928210 [A/G] NM_153707 FAM154A EXON Missense_A422V exm741519 9 18928286 [A/G] NM_153707 FAM154A EXON Nonsense_R397X exm741521 9 18928321 [T/C] NM_153707 FAM154A EXON Missense_N385S exm741522 9 18928328 [A/G] NM_153707 FAM154A EXON Missense_P383S exm741526 9 18928373 [C/G] NM_153707 FAM154A EXON Missense_L368V exm741540 9 18928456 [T/G] NM_153707 FAM154A EXON Missense_T340N exm741544 9 18928487 [T/G] NM_153707 FAM154A EXON Missense_K330Q exm741545 9 18928508 [A/G] NM_153707 FAM154A EXON Nonsense_R323X exm741548 9 18928525 [A/G] NM_153707 FAM154A EXON Missense_A317V exm741549 9 18928529 [G/C] NM_153707 FAM154A EXON Missense_G316R exm741550 9 18928530 [A/C] NM_153707 FAM154A EXON Missense_K315N exm741553 9 18928540 [A/G] NM_153707 FAM154A EXON Missense_T312I exm741560 9 18928628 [T/C] NM_153707 FAM154A EXON Missense_M283V exm741563 9 18928652 [A/G] NM_153707 FAM154A EXON Nonsense_R275X exm741564 9 18928676 [A/G] NM_153707 FAM154A EXON Missense_P267S exm741565 9 18928691 [A/G] NM_153707 FAM154A EXON Missense_P262S exm741574 9 18928871 [T/C] NM_153707 FAM154A EXON Missense_E202K exm741581 9 18928963 [A/G] NM_153707 FAM154A EXON Missense_T171I exm2264339 9 18935789 [A/C] NM_153707 FAM154A Silent exm741589 9 18941665 [T/C] NM_153707 FAM154A EXON Missense_D131N exm741593 9 18941703 [T/C] NM_153707 FAM154A EXON Missense_D118G exm741597 9 18941748 [T/G] NM_153707 FAM154A EXON Missense_T103K exm741599 9 18941775 [A/G] NM_153707 FAM154A EXON Missense_P94L exm741607 9 18950787 [A/G] NM_153707 FAM154A EXON Missense_P63S exm741609 9 18950814 [T/C] NM_153707 FAM154A EXON Missense_K54E exm741615 9 18950895 [T/C] NM_153707 FAM154A EXON Missense_K27E exm741629 9 19049665 [A/G] NM_006570 RRAGA EXON Missense_N3S exm2192845 9 19056385 [T/A] NM_001270890,NM_017645 HAUS6,HAUS6 EXON Nonsense_K907X,Nonsense_K942X exm741656 9 19056398 [T/G] NM_001270890,NM_017645 HAUS6,HAUS6 EXON Missense_E902D,Missense_E937D exm2192848 9 19057965 [T/A] NM_001270890,NM_017645 HAUS6,HAUS6 EXON Missense_L899I,Missense_L934I exm741672 9 19058204 [A/G] NM_001270890,NM_017645 HAUS6,HAUS6 EXON Missense_S819L,Missense_S854L exm741680 9 19058396 [T/C] NM_001270890,NM_017645 HAUS6,HAUS6 EXON Missense_N755S,Missense_N790S exm741687 9 19058448 [T/A] NM_001270890,NM_017645 HAUS6,HAUS6 EXON Missense_F738I,Missense_F773I exm741688 9 19058456 [T/C] NM_001270890,NM_017645 HAUS6,HAUS6 EXON Missense_D735G,Missense_D770G exm741703 9 19058733 [A/G] NM_001270890,NM_017645 HAUS6,HAUS6 EXON Missense_P643S,Missense_P678S exm741704 9 19058734 [T/A] NM_001270890,NM_017645 HAUS6,HAUS6 EXON Missense_E642D,Missense_E677D exm741708 9 19058784 [C/G] NM_001270890,NM_017645 HAUS6,HAUS6 EXON Missense_D626H,Missense_D661H exm741718 9 19060197 [T/A] NM_001270890,NM_017645 HAUS6,HAUS6 EXON Missense_S517T,Missense_S552T exm741724 9 19063081 [A/T] NM_001270890,NM_017645 HAUS6,HAUS6 EXON Missense_S483R,Missense_S518R exm741759 9 19080490 [T/G] NM_001270890,NM_017645 HAUS6,HAUS6 EXON Missense_L351M,Missense_L351M exm741765 9 19080567 [C/G] NM_001270890,NM_017645 HAUS6,HAUS6 EXON Missense_A325G,Missense_A325G exm741772 9 19082890 [A/G] NM_001270890,NM_017645 HAUS6,HAUS6 EXON Missense_I284T,Missense_I284T exm741782 9 19086769 [T/C] NM_001270890,NM_017645 HAUS6,HAUS6 EXON Missense_Y221C,Missense_Y221C exm741785 9 19087113 [A/G] NM_001270890,NM_017645 HAUS6,HAUS6 EXON Missense_I209T,Missense_I209T exm741788 9 19087154 [T/C] NM_001270890,NM_017645 HAUS6,HAUS6 EXON Synonymous_Q195Q,Synonymous_Q195Q exm741791 9 19089414 [A/C] NM_001270890,NM_017645 HAUS6,HAUS6 EXON Missense_A194S,Missense_A194S exm741792 9 19089430 [T/G] NM_001270890,NM_017645 HAUS6,HAUS6 EXON Missense_Q188H,Missense_Q188H exm741797 9 19093191 [T/G] NM_001270890,NM_017645 HAUS6,HAUS6 EXON Missense_K138N,Missense_K138N exm741801 9 19093268 [T/C] NM_001270890,NM_017645 HAUS6,HAUS6 EXON Missense_G113S,Missense_G113S exm2192892 9 19093288 [C/G] NM_001270890,NM_017645 HAUS6,HAUS6 EXON Missense_S106T,Missense_S106T exm741824 9 19116269 [A/G] NM_001122,NR_038064 PLIN2,PLIN2 EXON Nonsense_R431X,Silent exm741835 9 19116484 [T/C] NM_001122,NR_038064 PLIN2,PLIN2 EXON Missense_N359S,Silent exm741836 9 19116485 [T/C] NM_001122,NR_038064 PLIN2,PLIN2 EXON Missense_N359D,Silent exm741845 9 19116589 [A/G] NM_001122,NR_038064 PLIN2,PLIN2 EXON Missense_T324M,Silent exm741859 9 19119674 [A/G] NM_001122,NR_038064 PLIN2,PLIN2 EXON Missense_S251P,Silent exm2247967 9 19119784 [A/G] NM_001122,NR_038064 PLIN2,PLIN2 EXON Missense_P214L,Silent exm741869 9 19120980 [G/C] NM_001122,NR_038064 PLIN2,PLIN2 EXON Missense_G165R,Silent exm741878 9 19121164 [A/C] NM_001122,NR_038064 PLIN2,PLIN2 Silent,Silent exm741884 9 19123594 [T/C] NM_001122,NR_038064 PLIN2,PLIN2 EXON Missense_R93K,Silent exm741892 9 19126307 [T/C] NM_001122,NR_038064 PLIN2,PLIN2 EXON Missense_S11G,Silent exm2266797 9 19281501 [A/G] NR_073201,NM_017925 DENND4C,DENND4C Silent,Silent exm741897 9 19290794 [A/C] NR_073201,NM_017925 DENND4C,DENND4C EXON Silent,Missense_I241L exm2192935 9 19296108 [A/G] NR_073201,NM_017925 DENND4C,DENND4C EXON Silent,Missense_M302V exm741909 9 19296211 [C/G] NR_073201,NM_017925 DENND4C,DENND4C EXON Silent,Missense_S336C exm741915 9 19298088 [A/C] NR_073201,NM_017925 DENND4C,DENND4C EXON Silent,Missense_P359T exm741921 9 19299248 [T/A] NR_073201,NM_017925 DENND4C,DENND4C EXON Silent,Missense_I377L exm741927 9 19305437 [A/G] NR_073201,NM_017925 DENND4C,DENND4C EXON Silent,Missense_I467V exm741933 9 19305521 [T/C] NR_073201,NM_017925 DENND4C,DENND4C EXON Silent,Missense_Y495H exm741946 9 19316625 [A/G] NR_073201,NM_017925 DENND4C,DENND4C EXON Silent,Missense_Q532R exm741950 9 19316733 [T/G] NR_073201,NM_017925 DENND4C,DENND4C EXON Silent,Missense_R568L exm741977 9 19332088 [A/G] NR_073201,NM_017925 DENND4C,DENND4C EXON Silent,Missense_Y789C exm741978 9 19332100 [C/G] NR_073201,NM_017925 DENND4C,DENND4C EXON Silent,Missense_S793C exm2192973 9 19336301 [T/C] NR_073201,NM_017925 DENND4C,DENND4C EXON Silent,Missense_R875C exm741992 9 19336323 [T/C] NR_073201,NM_017925 DENND4C,DENND4C EXON Silent,Missense_T882M exm741999 9 19336407 [T/C] NR_073201,NM_017925 DENND4C,DENND4C EXON Silent,Missense_I910T exm742008 9 19342672 [A/C] NR_073201,NM_017925 DENND4C,DENND4C EXON Silent,Missense_P967T exm742017 9 19345984 [A/G] NR_073201,NM_017925 DENND4C,DENND4C EXON Silent,Missense_T1024A exm2247968 9 19346176 [A/G] NR_073201,NM_017925 DENND4C,DENND4C EXON Silent,Missense_K1088E exm2274348 9 19346335 [T/C] NR_073201,NM_017925 DENND4C,DENND4C EXON Silent,Missense_P1141S exm742027 9 19346363 [T/C] NR_073201,NM_017925 DENND4C,DENND4C EXON Silent,Missense_T1150I exm742030 9 19346435 [T/G] NR_073201,NM_017925 DENND4C,DENND4C EXON Silent,Missense_V1174G exm742032 9 19346501 [A/G] NR_073201,NM_017925 DENND4C,DENND4C EXON Silent,Missense_D1196G exm742034 9 19346554 [A/G] NR_073201,NM_017925 DENND4C,DENND4C EXON Silent,Missense_G1214R exm742035 9 19346594 [T/G] NR_073201,NM_017925 DENND4C,DENND4C EXON Silent,Missense_V1227G exm742038 9 19346710 [A/G] NR_073201,NM_017925 DENND4C,DENND4C EXON Silent,Missense_T1266A exm742041 9 19346729 [T/C] NR_073201,NM_017925 DENND4C,DENND4C EXON Silent,Missense_A1272V exm742043 9 19346795 [A/G] NR_073201,NM_017925 DENND4C,DENND4C EXON Silent,Missense_E1294G exm742044 9 19346813 [T/C] NR_073201,NM_017925 DENND4C,DENND4C EXON Silent,Missense_V1300A exm742046 9 19346825 [A/C] NR_073201,NM_017925 DENND4C,DENND4C EXON Silent,Missense_K1304T exm742056 9 19346941 [A/C] NR_073201,NM_017925 DENND4C,DENND4C EXON Silent,Missense_N1343H exm742067 9 19350763 [A/G] NR_073201,NM_017925 DENND4C,DENND4C EXON Silent,Missense_I1412V exm742070 9 19350846 [T/C] NR_073201,NM_017925 DENND4C,DENND4C EXON Silent,Synonymous_S1439S exm2259275 9 19350846 [T/C] NR_073201,NM_017925 DENND4C,DENND4C EXON Silent,Synonymous_S1439S exm742074 9 19352104 [A/G] NR_073201,NM_017925 DENND4C,DENND4C EXON Silent,Missense_Q1461R exm742085 9 19352511 [T/G] NR_073201,NM_017925 DENND4C,DENND4C EXON Silent,Missense_Q1494H exm2192995 9 19352614 [T/G] NR_073201,NM_017925 DENND4C,DENND4C EXON Silent,Missense_F1529V exm742101 9 19358118 [T/G] NR_073201,NM_017925 DENND4C,DENND4C EXON Silent,Missense_I1658S exm742102 9 19358153 [A/G] NR_073201,NM_017925 DENND4C,DENND4C EXON Silent,Missense_V1670I exm742107 9 19360383 [T/C] NR_073201,NM_017925 DENND4C,DENND4C EXON Silent,Missense_P1719S exm742121 9 19369943 [A/G] NR_073201,NM_017925 DENND4C,DENND4C EXON Silent,Missense_N1829S exm742125 9 19372040 [T/C] NR_073201,NM_017925 DENND4C,DENND4C EXON Silent,Missense_F1867L exm742126 9 19372049 [T/G] NR_073201,NM_017925 DENND4C,DENND4C EXON Silent,Nonsense_E1870X exm2247970 9 19372085 [A/G] NR_073201,NM_017925 DENND4C,DENND4C EXON Silent,Missense_I1882V exm742128 9 19372118 [C/G] NR_073201,NM_017925 DENND4C,DENND4C EXON Silent,Missense_P1893A exm742134 9 19376255 [A/C] NM_001010 RPS6 EXON Silent exm742155 9 19378903 [T/C] NM_001010 RPS6 EXON Missense_R51Q exm742164 9 19379502 [C/G] NM_001010 RPS6 EXON Missense_L41V exm-rs10757056 9 19406178 [T/C] exm742204 9 19424838 [T/C] NM_001010887 ACER2 EXON Missense_R122W exm742207 9 19434980 [T/C] NM_001010887 ACER2 EXON Missense_A134V exm742219 9 19446293 [A/G] NM_001010887 ACER2 EXON Missense_R173H exm742234 9 19516162 [T/C] NM_020344,NM_001193288 SLC24A2,SLC24A2 EXON Missense_V659I,Missense_V642I exm742237 9 19516177 [A/T] NM_020344,NM_001193288 SLC24A2,SLC24A2 EXON Missense_I654F,Missense_I637F exm742246 9 19516335 [T/C] NM_020344,NM_001193288 SLC24A2,SLC24A2 EXON Missense_N601S,Missense_N584S exm742277 9 19576923 [T/C] NM_020344,NM_001193288 SLC24A2,SLC24A2 EXON Synonymous_V409V,Synonymous_V392V exm742289 9 19619683 [A/G] NM_020344,NM_001193288 SLC24A2,SLC24A2 EXON Missense_P326L,Missense_P326L exm742297 9 19785979 [A/G] NM_020344,NM_001193288 SLC24A2,SLC24A2 EXON Missense_R296C,Missense_R296C exm742298 9 19786015 [T/C] NM_020344,NM_001193288 SLC24A2,SLC24A2 EXON Missense_V284I,Missense_V284I exm742300 9 19786020 [A/C] NM_020344,NM_001193288 SLC24A2,SLC24A2 EXON Missense_F282C,Missense_F282C exm742311 9 19786270 [T/C] NM_020344,NM_001193288 SLC24A2,SLC24A2 EXON Missense_A199T,Missense_A199T exm742322 9 19786564 [A/G] NM_020344,NM_001193288 SLC24A2,SLC24A2 EXON Missense_P101S,Missense_P101S exm742324 9 19786587 [T/C] NM_020344,NM_001193288 SLC24A2,SLC24A2 EXON Missense_K93R,Missense_K93R exm742327 9 19786633 [A/C] NM_020344,NM_001193288 SLC24A2,SLC24A2 EXON Missense_V78L,Missense_V78L exm742330 9 19786767 [T/C] NM_020344,NM_001193288 SLC24A2,SLC24A2 EXON Missense_K33R,Missense_K33R exm2262621 9 19790795 [T/C] exm2271057 9 19904103 [T/C] exm-rs9792640 9 20035279 [A/G] exm-rs16937883 9 20098711 [A/G] exm2271175 9 20327360 [T/G] exm742347 9 20363474 [T/C] NM_004529 MLLT3 EXON Missense_R444K exm742358 9 20413792 [A/G] NM_004529 MLLT3 EXON Missense_T351M exm742360 9 20413813 [A/G] NM_004529 MLLT3 EXON Missense_T344I exm742375 9 20414238 [A/C] NM_004529 MLLT3 EXON Missense_E202D exm2259281 9 20638248 [T/C] exm742411 9 20715401 [A/C] NM_017794 FOCAD EXON Missense_Q17K exm742427 9 20740272 [A/C] NM_017794 FOCAD EXON Missense_L109I exm742431 9 20758097 [T/C] NM_017794 FOCAD EXON Missense_P134L exm742435 9 20758183 [A/C] NM_017794 FOCAD EXON Missense_P163T exm742436 9 20764870 [T/C] NM_017794 FOCAD EXON Missense_L166S exm742450 9 20770031 [A/G] NM_017794 FOCAD EXON Missense_V234I exm742451 9 20770050 [T/C] NM_017794 FOCAD EXON Missense_T240I exm2247979 9 20770082 [T/C] NM_017794 FOCAD EXON Missense_C251R exm742454 9 20770113 [A/G] NM_017794 FOCAD EXON Nonsense_W261X exm742469 9 20781827 [A/G] NM_017794 FOCAD EXON Missense_D366N exm742472 9 20781868 [T/G] NM_017794 FOCAD EXON Missense_Q379H exm742482 9 20789378 [A/C] NM_017794 FOCAD EXON Missense_T409N exm742491 9 20789545 [A/G] NM_017794 FOCAD EXON Missense_G465R exm742499 9 20819849 [A/G] NM_017794 FOCAD EXON Missense_I504V exm742500 9 20820329 [A/G] NM_017794 FOCAD EXON Missense_I523V exm742501 9 20820344 [T/C] NM_017794 FOCAD EXON Nonsense_R528X exm742504 9 20820347 [A/G] NM_017794 FOCAD EXON Missense_I529V exm742511 9 20820961 [T/C] NM_017794 FOCAD EXON Nonsense_Q562X exm742531 9 20865973 [A/G] NM_017794 FOCAD EXON Missense_K702E exm742533 9 20866934 [A/G] NM_017794 FOCAD EXON Missense_I705V exm2193241 9 20881887 [A/G] NM_017794 FOCAD EXON Missense_T779A exm742542 9 20881888 [T/C] NM_017794 FOCAD EXON Missense_T779I exm742543 9 20881921 [G/C] NM_017794 FOCAD EXON Missense_P790R exm742545 9 20881957 [T/C] NM_017794 FOCAD EXON Missense_A802V exm742557 9 20885204 [A/G] NM_017794 FOCAD EXON Missense_Q867R exm742558 9 20885216 [T/C] NM_017794 FOCAD EXON Missense_A871V exm742559 9 20885231 [T/C] NM_017794 FOCAD Silent exm742569 9 20916902 [T/A] NM_017794 FOCAD EXON Missense_M940L exm742573 9 20923667 [T/C] NM_017794 FOCAD EXON Missense_P954L exm742579 9 20923696 [G/C] NM_017794 FOCAD EXON Missense_L964V exm742588 9 20926370 [A/G] NM_017794 FOCAD EXON Missense_D1011G exm742602 9 20929441 [A/G] NM_017794 FOCAD EXON Missense_I1055V exm742605 9 20929480 [A/G] NM_017794 FOCAD EXON Missense_M1068V exm742607 9 20929531 [A/G] NM_017794 FOCAD EXON Missense_V1085M exm742611 9 20933030 [A/C] NM_017794 FOCAD EXON Missense_E1112A exm742619 9 20944651 [G/C] NM_017794 FOCAD EXON Missense_L1145V exm742620 9 20944681 [G/C] NM_017794 FOCAD EXON Missense_Q1155E exm742622 9 20944696 [A/G] NM_017794 FOCAD EXON Missense_V1160I exm742627 9 20944747 [A/G] NM_017794 FOCAD EXON Missense_G1177R exm2259282 9 20944764 [A/G] NM_017794 FOCAD EXON Synonymous_T1182T exm742631 9 20946728 [A/G] NM_017794 FOCAD EXON Missense_C1195Y exm742638 9 20948328 [A/C] NM_017794 FOCAD EXON Missense_H1245P exm742644 9 20948913 [A/G] NM_017794 FOCAD EXON Missense_G1288R exm742653 9 20953049 [A/G] NM_017794 FOCAD EXON Missense_T1373A exm742656 9 20976421 [T/C] NM_017794 FOCAD EXON Missense_P1379S exm742674 9 20981542 [T/C] NM_017794 FOCAD EXON Missense_P1499S exm742681 9 20981684 [A/G] NM_017794 FOCAD EXON Missense_R1546Q exm742691 9 20986362 [A/G] NM_017794 FOCAD EXON Missense_D1602N exm742696 9 20986463 [A/G] NM_017794 FOCAD EXON Synonymous_T1635T exm742698 9 20988402 [A/T] NM_017794 FOCAD EXON Missense_S1660T exm2193304 9 20988418 [T/C] NM_017794 FOCAD EXON Missense_A1665V exm742699 9 20988423 [A/G] NM_017794 FOCAD EXON Missense_D1667N exm742700 9 20988426 [A/G] NM_017794 FOCAD EXON Missense_K1668E exm742706 9 20990164 [A/G] NM_017794 FOCAD EXON Missense_A1683T exm2247984 9 20990180 [C/G] NM_017794 FOCAD EXON Missense_T1688S exm2193309 9 20990242 [A/G] NM_017794 FOCAD EXON Missense_A1709T exm742714 9 20990364 [T/G] NM_017794 FOCAD EXON Missense_Q1749H exm742717 9 20995555 [T/C] NM_017794 FOCAD EXON Missense_A1778V exm742721 9 20995598 [A/T] NM_017794 FOCAD EXON Missense_K1792N exm742730 9 21008127 [A/G] NM_001010915 PTPLAD2 EXON Missense_S170L exm742742 9 21016009 [A/G] NM_001010915 PTPLAD2 EXON Missense_L91F exm2271059 9 21019817 [T/C] NM_001010915 PTPLAD2 Silent exm742749 9 21029330 [T/C] NM_001010915 PTPLAD2 EXON Missense_T36A exm742751 9 21029383 [A/G] NM_001010915 PTPLAD2 EXON Missense_A18V exm742752 9 21077313 [A/G] NM_002176 IFNB1 EXON Nonsense_R186X exm742754 9 21077371 [T/C] NM_002176 IFNB1 EXON Missense_I166M exm742755 9 21077408 [A/C] NM_002176 IFNB1 EXON Missense_L154R exm742761 9 21077528 [T/C] NM_002176 IFNB1 EXON Missense_H114R exm2193342 9 21077640 [T/C] NM_002176 IFNB1 EXON Missense_A77T exm742771 9 21077730 [T/C] NM_002176 IFNB1 EXON Missense_G47R exm742773 9 21077767 [C/G] NM_002176 IFNB1 EXON Missense_S34R exm742776 9 21077799 [A/G] NM_002176 IFNB1 EXON Missense_Y24H exm742779 9 21077849 [A/T] NM_002176 IFNB1 EXON Missense_L7H exm742784 9 21141080 [A/G] NM_002177 IFNW1 EXON Missense_W164R exm742786 9 21141089 [A/C] NM_002177 IFNW1 EXON Missense_D161Y exm742795 9 21141160 [T/C] NM_002177 IFNW1 EXON Missense_S137N exm742801 9 21141269 [T/C] NM_002177 IFNW1 EXON Missense_N101D exm742812 9 21141362 [A/G] NM_002177 IFNW1 EXON Nonsense_Q70X exm742827 9 21141512 [T/C] NM_002177 IFNW1 EXON Missense_G20R exm742838 9 21166115 [A/G] NM_002175 IFNA21 EXON Missense_V166A exm742848 9 21166236 [A/C] NM_002175 IFNA21 EXON Nonsense_E126X exm742852 9 21166270 [G/C] NM_002175 IFNA21 EXON Missense_Q114H exm742940 9 21201999 [A/T] NM_021057 IFNA7 EXON Nonsense_R56X exm742944 9 21202065 [T/G] NM_021057 IFNA7 EXON Missense_N34H exm742956 9 21202158 [A/G] NM_021057 IFNA7 EXON Missense_R3W exm743070 9 21227670 [G/C] NM_021268 IFNA17 EXON Missense_R168T exm743145 9 21239612 [A/G] NM_002172 IFNA14 EXON Missense_F108S exm2247990 9 21239675 [G/C] NM_002172 IFNA14 EXON Missense_T87S exm743157 9 21239706 [T/C] NM_002172 IFNA14 EXON Missense_I77V exm743158 9 21239720 [T/C] NM_002172 IFNA14 EXON Missense_Q72R exm743174 9 21239850 [T/C] NM_002172 IFNA14 EXON Missense_T29A exm743184 9 21304720 [C/G] NM_002169 IFNA5 EXON Missense_A179G exm743193 9 21304891 [C/G] NM_002169 IFNA5 EXON Missense_C122S exm743194 9 21304913 [A/G] NM_002169 IFNA5 EXON Nonsense_Q115X exm743207 9 21305173 [T/C] NM_002169 IFNA5 EXON Missense_Q28R exm743216 9 21333058 [T/G] NM_018847 KLHL9 EXON Missense_P601T exm2193449 9 21333447 [T/C] NM_018847 KLHL9 EXON Missense_D471G exm743230 9 21333465 [T/C] NM_018847 KLHL9 EXON Missense_C465Y exm743235 9 21333719 [T/C] NM_018847 KLHL9 EXON Missense_M380I exm743237 9 21333867 [A/G] NM_018847 KLHL9 EXON Missense_A331V exm2193456 9 21334396 [T/C] NM_018847 KLHL9 EXON Missense_V155I exm743258 9 21334735 [G/C] NM_018847 KLHL9 EXON Missense_Q42E exm743266 9 21350366 [G/C] NM_021002 IFNA6 EXON Missense_S174C exm743271 9 21350423 [T/G] NM_021002 IFNA6 EXON Missense_T155K exm743282 9 21350603 [T/C] NM_021002 IFNA6 EXON Missense_D95G exm743284 9 21350634 [A/G] NM_021002 IFNA6 EXON Nonsense_Q85X exm743285 9 21350640 [A/C] NM_021002 IFNA6 EXON Missense_V83L exm743288 9 21350709 [T/C] NM_021002 IFNA6 EXON Missense_R60G exm743334 9 21384816 [T/C] NM_000605 IFNA2 EXON Missense_M171I exm743347 9 21385094 [A/G] NM_000605 IFNA2 EXON Missense_L79F exm743351 9 21385159 [T/C] NM_000605 IFNA2 EXON Missense_H57R exm743353 9 21385192 [T/C] NM_000605 IFNA2 EXON Missense_R46K exm743360 9 21385312 [T/G] NM_000605 IFNA2 EXON Missense_A6D exm743380 9 21409506 [A/G] NM_002170 IFNA8 EXON Missense_E111K exm743383 9 21409584 [A/G] NM_002170 IFNA8 EXON Missense_E137K exm743392 9 21440533 [A/G] NM_024013 IFNA1 EXON Missense_M9I exm2271060 9 21471726 [T/C] NR_027054 MIR31HG Silent exm743427 9 21481074 [A/G] NR_027054,NM_176891 MIR31HG,IFNE EXON Silent,Missense_P207L exm2193502 9 21481112 [A/G] NR_027054,NM_176891 MIR31HG,IFNE EXON Silent,Synonymous_N194N exm743434 9 21481212 [T/C] NR_027054,NM_176891 MIR31HG,IFNE EXON Silent,Missense_S161N exm743435 9 21481231 [C/G] NR_027054,NM_176891 MIR31HG,IFNE EXON Silent,Missense_L155V exm743437 9 21481259 [T/A] NR_027054,NM_176891 MIR31HG,IFNE EXON Silent,Missense_K145N exm2193504 9 21481377 [A/G] NR_027054,NM_176891 MIR31HG,IFNE EXON Silent,Missense_T106M exm743443 9 21481483 [A/G] NR_027054,NM_176891 MIR31HG,IFNE EXON Silent,Nonsense_Q71X exm743444 9 21481489 [T/G] NR_027054,NM_176891 MIR31HG,IFNE EXON Silent,Missense_P69T exm743446 9 21481556 [T/G] NR_027054,NM_176891 MIR31HG,IFNE EXON Silent,Missense_Q46H exm743447 9 21481566 [T/C] NR_027054,NM_176891 MIR31HG,IFNE EXON Silent,Missense_N43S exm743448 9 21481642 [T/C] NR_027054,NM_176891 MIR31HG,IFNE EXON Silent,Missense_T18A exm2271176 9 21555445 [T/G] NR_027054 MIR31HG Silent exm-rs4636294 9 21747803 [A/G] exm-rs7023329 9 21816528 [A/G] NM_002451 MTAP Silent exm743465 9 21816758 [A/G] NM_002451 MTAP EXON Missense_V56I exm2193552 9 21854739 [A/G] NM_002451 MTAP EXON Missense_R187H exm-rs4977749 9 21927327 [A/G] exm2271177 9 21936381 [T/C] exm743529 9 21970916 [T/C] NM_000077,NM_001195132,NM_058197,NM_058195 CDKN2A,CDKN2A,CDKN2A,CDKN2A EXON Missense_A148T,Missense_A148T,Silent,Silent exm743530 9 21970928 [A/G] NM_000077,NM_001195132,NM_058197,NM_058195 CDKN2A,CDKN2A,CDKN2A,CDKN2A EXON Missense_R144C,Missense_R144C,Silent,Silent exm743537 9 21970985 [C/G] NM_000077,NM_001195132,NM_058197,NM_058195 CDKN2A,CDKN2A,CDKN2A,CDKN2A EXON Missense_D125H,Missense_D125H,Silent,Silent exm743562 9 21974640 [G/C] NM_000077,NM_001195132,NM_058197,NM_058195 CDKN2A,CDKN2A,CDKN2A,CDKN2A EXON Silent,Silent,Missense_G63R,Silent exm743569 9 21974720 [C/G] NM_000077,NM_001195132,NM_058197,NM_058195 CDKN2A,CDKN2A,CDKN2A,CDKN2A EXON Missense_A36G,Missense_A36G,Missense_A36G,Silent exm-rs3217992 9 22003223 [T/C] NR_047539,NR_047536,NR_047535,NR_047543,NR_047534,NR_047541,NR_047538,NR_003529,NR_047540,NR_047532,NR_047537,NR_047542,NR_047533,NM_004936,NM_078487 CDKN2B-AS1,CDKN2B-AS1,CDKN2B-AS1,CDKN2B-AS1,CDKN2B-AS1,CDKN2B-AS1,CDKN2B-AS1,CDKN2B-AS1,CDKN2B-AS1,CDKN2B-AS1,CDKN2B-AS1,CDKN2B-AS1,CDKN2B-AS1,CDKN2B,CDKN2B EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm-rs1063192 9 22003367 [A/G] NR_047539,NR_047536,NR_047535,NR_047543,NR_047534,NR_047541,NR_047538,NR_003529,NR_047540,NR_047532,NR_047537,NR_047542,NR_047533,NM_004936,NM_078487 CDKN2B-AS1,CDKN2B-AS1,CDKN2B-AS1,CDKN2B-AS1,CDKN2B-AS1,CDKN2B-AS1,CDKN2B-AS1,CDKN2B-AS1,CDKN2B-AS1,CDKN2B-AS1,CDKN2B-AS1,CDKN2B-AS1,CDKN2B-AS1,CDKN2B,CDKN2B EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm743592 9 22006174 [A/G] NR_047539,NR_047536,NR_047535,NR_047543,NR_047534,NR_047541,NR_047538,NR_003529,NR_047540,NR_047532,NR_047537,NR_047542,NR_047533,NM_004936,NM_078487 CDKN2B-AS1,CDKN2B-AS1,CDKN2B-AS1,CDKN2B-AS1,CDKN2B-AS1,CDKN2B-AS1,CDKN2B-AS1,CDKN2B-AS1,CDKN2B-AS1,CDKN2B-AS1,CDKN2B-AS1,CDKN2B-AS1,CDKN2B-AS1,CDKN2B,CDKN2B EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_P77S,Silent exm743602 9 22008730 [T/C] NR_047539,NR_047536,NR_047535,NR_047543,NR_047534,NR_047541,NR_047538,NR_003529,NR_047540,NR_047532,NR_047537,NR_047542,NR_047533,NM_004936,NM_078487 CDKN2B-AS1,CDKN2B-AS1,CDKN2B-AS1,CDKN2B-AS1,CDKN2B-AS1,CDKN2B-AS1,CDKN2B-AS1,CDKN2B-AS1,CDKN2B-AS1,CDKN2B-AS1,CDKN2B-AS1,CDKN2B-AS1,CDKN2B-AS1,CDKN2B,CDKN2B EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_G75R exm-rs564398 9 22029547 [T/C] NR_047539,NR_047536,NR_047535,NR_047543,NR_047534,NR_047541,NR_047538,NR_003529,NR_047540,NR_047532,NR_047537,NR_047542,NR_047533 CDKN2B-AS1,CDKN2B-AS1,CDKN2B-AS1,CDKN2B-AS1,CDKN2B-AS1,CDKN2B-AS1,CDKN2B-AS1,CDKN2B-AS1,CDKN2B-AS1,CDKN2B-AS1,CDKN2B-AS1,CDKN2B-AS1,CDKN2B-AS1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm-rs7865618 9 22031005 [A/G] NR_047539,NR_047536,NR_047535,NR_047543,NR_047534,NR_047541,NR_047538,NR_003529,NR_047540,NR_047532,NR_047537,NR_047542,NR_047533 CDKN2B-AS1,CDKN2B-AS1,CDKN2B-AS1,CDKN2B-AS1,CDKN2B-AS1,CDKN2B-AS1,CDKN2B-AS1,CDKN2B-AS1,CDKN2B-AS1,CDKN2B-AS1,CDKN2B-AS1,CDKN2B-AS1,CDKN2B-AS1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm-rs2157719 9 22033366 [T/C] NR_047539,NR_047536,NR_047535,NR_047543,NR_047534,NR_047541,NR_047538,NR_003529,NR_047540,NR_047532,NR_047537,NR_047542,NR_047533 CDKN2B-AS1,CDKN2B-AS1,CDKN2B-AS1,CDKN2B-AS1,CDKN2B-AS1,CDKN2B-AS1,CDKN2B-AS1,CDKN2B-AS1,CDKN2B-AS1,CDKN2B-AS1,CDKN2B-AS1,CDKN2B-AS1,CDKN2B-AS1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm-rs1412829 9 22043926 [A/G] NR_047539,NR_047536,NR_047535,NR_047543,NR_047534,NR_047541,NR_047538,NR_003529,NR_047540,NR_047532,NR_047537,NR_047542,NR_047533 CDKN2B-AS1,CDKN2B-AS1,CDKN2B-AS1,CDKN2B-AS1,CDKN2B-AS1,CDKN2B-AS1,CDKN2B-AS1,CDKN2B-AS1,CDKN2B-AS1,CDKN2B-AS1,CDKN2B-AS1,CDKN2B-AS1,CDKN2B-AS1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm-rs1011970 9 22062134 [T/G] NR_047539,NR_047536,NR_047535,NR_047543,NR_047534,NR_047541,NR_047538,NR_003529,NR_047540,NR_047532,NR_047537,NR_047542,NR_047533 CDKN2B-AS1,CDKN2B-AS1,CDKN2B-AS1,CDKN2B-AS1,CDKN2B-AS1,CDKN2B-AS1,CDKN2B-AS1,CDKN2B-AS1,CDKN2B-AS1,CDKN2B-AS1,CDKN2B-AS1,CDKN2B-AS1,CDKN2B-AS1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm-rs4977756 9 22068652 [A/G] NR_047539,NR_047536,NR_047535,NR_047543,NR_047534,NR_047541,NR_047538,NR_003529,NR_047540,NR_047532,NR_047537,NR_047542,NR_047533 CDKN2B-AS1,CDKN2B-AS1,CDKN2B-AS1,CDKN2B-AS1,CDKN2B-AS1,CDKN2B-AS1,CDKN2B-AS1,CDKN2B-AS1,CDKN2B-AS1,CDKN2B-AS1,CDKN2B-AS1,CDKN2B-AS1,CDKN2B-AS1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm-rs1333040 9 22083404 [T/C] NR_047536,NR_047535,NR_047543,NR_047534,NR_047538,NR_003529,NR_047532,NR_047537 CDKN2B-AS1,CDKN2B-AS1,CDKN2B-AS1,CDKN2B-AS1,CDKN2B-AS1,CDKN2B-AS1,CDKN2B-AS1,CDKN2B-AS1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm-rs4977574 9 22098574 [A/G] NR_047536,NR_047535,NR_047543,NR_047534,NR_047538,NR_003529,NR_047532,NR_047537 CDKN2B-AS1,CDKN2B-AS1,CDKN2B-AS1,CDKN2B-AS1,CDKN2B-AS1,CDKN2B-AS1,CDKN2B-AS1,CDKN2B-AS1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm-rs10965235 9 22115105 [A/C] NR_047536,NR_047535,NR_047543,NR_047534,NR_047538,NR_003529,NR_047532,NR_047537 CDKN2B-AS1,CDKN2B-AS1,CDKN2B-AS1,CDKN2B-AS1,CDKN2B-AS1,CDKN2B-AS1,CDKN2B-AS1,CDKN2B-AS1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm-rs2383207 9 22115959 [A/G] NR_047536,NR_047535,NR_047543,NR_047534,NR_047538,NR_003529,NR_047532,NR_047537 CDKN2B-AS1,CDKN2B-AS1,CDKN2B-AS1,CDKN2B-AS1,CDKN2B-AS1,CDKN2B-AS1,CDKN2B-AS1,CDKN2B-AS1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm-rs10757278 9 22124477 [A/G] exm-rs1333048 9 22125347 [A/C] exm-rs1333049 9 22125503 [G/C] exm-rs7020996 9 22129579 [T/C] exm-rs2383208 9 22132076 [A/G] exm-rs10965250 9 22133284 [A/G] exm2259290 9 22134172 [T/C] exm-rs1333051 9 22136489 [T/A] exm-rs961831 9 22362104 [T/G] exm743621 9 22447071 [T/C] NM_022160 DMRTA1 EXON Missense_R3W exm743623 9 22447122 [A/G] NM_022160 DMRTA1 EXON Missense_A20T exm743648 9 22451098 [T/G] NM_022160 DMRTA1 EXON Nonsense_G235X exm743650 9 22451120 [A/G] NM_022160 DMRTA1 EXON Missense_K242R exm743655 9 22451185 [A/G] NM_022160 DMRTA1 EXON Missense_G264R exm743659 9 22451231 [C/G] NM_022160 DMRTA1 EXON Missense_S279C exm743660 9 22451269 [T/C] NM_022160 DMRTA1 EXON Missense_P292S exm743664 9 22451339 [A/C] NM_022160 DMRTA1 EXON Missense_T315N exm743666 9 22451349 [C/G] NM_022160 DMRTA1 EXON Missense_S318R exm743669 9 22451371 [T/C] NM_022160 DMRTA1 EXON Missense_P326S exm743672 9 22451501 [A/G] NM_022160 DMRTA1 EXON Missense_H369R exm743676 9 22451581 [T/G] NM_022160 DMRTA1 EXON Missense_A396S exm743683 9 22451674 [A/G] NM_022160 DMRTA1 EXON Missense_G427S exm743684 9 22451686 [A/G] NM_022160 DMRTA1 EXON Missense_R431G exm743687 9 22451770 [T/G] NM_022160 DMRTA1 EXON Missense_G459W exm743688 9 22451771 [G/C] NM_022160 DMRTA1 EXON Missense_G459A exm743696 9 22451870 [C/G] NM_022160 DMRTA1 EXON Missense_C492S exm743698 9 22451906 [T/C] NM_022160 DMRTA1 EXON Missense_P504L exm-rs613391 9 22670715 [G/C] NR_038977 FLJ35282 Silent exm2266798 9 22768513 [A/G] NR_038977 FLJ35282 Silent exm2262625 9 23127562 [T/C] exm2262626 9 23425236 [A/G] exm2266799 9 23487566 [A/G] exm2266800 9 23737627 [A/G] NM_001171197,NM_004432,NM_001171195 ELAVL2,ELAVL2,ELAVL2 Silent,Silent,Silent exm-rs4977638 9 24055823 [A/C] exm-rs4246856 9 24092072 [G/C] exm-rs2225614 9 24111280 [A/C] exm2266801 9 24477128 [A/G] exm2262627 9 24545513 [A/G] NM_001271706 IZUMO3 EXON Synonymous_P45P exm-rs4977659 9 24733226 [A/G] exm2264362 9 24883179 [A/C] exm2271062 9 24998417 [T/C] exm-rs12552736 9 25449122 [T/C] exm-rs13300284 9 25452812 [A/G] exm-rs17774966 9 25551357 [T/C] exm2259298 9 25677912 [C/G] NM_001004125 TUSC1 EXON Synonymous_A136A exm743762 9 25677953 [T/C] NM_001004125 TUSC1 EXON Missense_N123D exm2271063 9 25741077 [T/C] exm-rs1231375 9 25755952 [T/C] exm2266896 9 25934932 [A/G] exm2264340 9 26068261 [A/C] NM_001004352 LOC100506422 Silent exm2259301 9 26565913 [A/C] exm2271179 9 26579248 [T/C] exm-rs10812428 9 26614847 [T/C] exm-rs1889899 9 26789940 [A/G] exm743784 9 26842442 [T/C] NM_024828,NM_001167575 CAAP1,CAAP1 EXON Missense_E315K,Missense_E170K exm743788 9 26842540 [T/C] NM_024828,NM_001167575 CAAP1,CAAP1 EXON Missense_N282S,Missense_N137S exm743791 9 26861106 [T/C] NM_024828,NM_001167575 CAAP1,CAAP1 EXON Missense_V233M,Missense_V88M exm743800 9 26884877 [T/C] NM_024828,NM_001167575 CAAP1,CAAP1 EXON Missense_N199S,Missense_N54S exm743801 9 26886137 [A/C] NM_024828,NM_001167575 CAAP1,CAAP1 EXON Missense_L185R,Missense_L40R exm743806 9 26887389 [C/G] NM_024828,NM_001167575 CAAP1,CAAP1 EXON Missense_D142E,Silent exm743848 9 26905633 [T/C] NM_001031689 PLAA EXON Missense_D755G exm743851 9 26905703 [T/C] NM_001031689 PLAA EXON Missense_I732V exm743868 9 26907931 [A/G] NM_001031689 PLAA EXON Missense_L575F exm743882 9 26910434 [T/C] NM_001031689 PLAA EXON Missense_N520S exm743900 9 26917136 [A/G] NM_001031689 PLAA EXON Missense_S482L exm2259302 9 26923258 [A/G] NM_001031689 PLAA EXON Synonymous_H319H exm743917 9 26923258 [A/G] NM_001031689 PLAA EXON Synonymous_H319H exm743918 9 26923285 [G/C] NM_001031689 PLAA EXON Missense_I310M exm743921 9 26923304 [G/C] NM_001031689 PLAA EXON Missense_T304R exm743929 9 26925851 [T/C] NM_001031689 PLAA EXON Missense_D281N exm743932 9 26925902 [T/C] NM_001031689 PLAA EXON Missense_A264T exm743942 9 26935046 [A/G] NM_001031689 PLAA EXON Missense_M103T exm2193770 9 26935056 [A/C] NM_001031689 PLAA EXON Missense_D100Y exm743945 9 26935157 [T/C] NM_001031689 PLAA EXON Missense_N66S exm-rs7045881 9 26935996 [T/A] NM_001031689 PLAA Silent exm2248007 9 26956371 [A/G] NM_001099223,NM_001099222,NM_001099224,NM_025103 IFT74,IFT74,IFT74,IFT74 EXON Silent,Silent,Silent,Silent exm743954 9 26961976 [A/G] NM_001099223,NM_001099222,NM_001099224,NM_025103 IFT74,IFT74,IFT74,IFT74 EXON Missense_N4S,Missense_N4S,Missense_N4S,Missense_N4S exm743956 9 26962002 [A/G] NM_001099223,NM_001099222,NM_001099224,NM_025103 IFT74,IFT74,IFT74,IFT74 EXON Missense_V13I,Missense_V13I,Missense_V13I,Missense_V13I exm2193776 9 26978157 [A/G] NM_001099223,NM_001099222,NM_001099224,NM_025103 IFT74,IFT74,IFT74,IFT74 EXON Missense_R51H,Missense_R51H,Missense_R51H,Missense_R51H exm743963 9 26978170 [A/G] NM_001099223,NM_001099222,NM_001099224,NM_025103 IFT74,IFT74,IFT74,IFT74 EXON Missense_I55M,Missense_I55M,Missense_I55M,Missense_I55M exm743964 9 26978178 [A/G] NM_001099223,NM_001099222,NM_001099224,NM_025103 IFT74,IFT74,IFT74,IFT74 EXON Missense_G58D,Missense_G58D,Missense_G58D,Missense_G58D exm743970 9 26978259 [A/G] NM_001099223,NM_001099222,NM_001099224,NM_025103 IFT74,IFT74,IFT74,IFT74 EXON Missense_K85R,Missense_K85R,Missense_K85R,Missense_K85R exm743975 9 26984277 [A/G] NM_001099223,NM_001099222,NM_001099224,NM_025103 IFT74,IFT74,IFT74,IFT74 EXON Missense_T110A,Missense_T110A,Missense_T110A,Missense_T110A exm743988 9 26995580 [A/T] NM_001099223,NM_001099222,NM_001099224,NM_025103,NM_022901 IFT74,IFT74,IFT74,IFT74,LRRC19 EXON Silent,Silent,Silent,Silent,Missense_D351V exm743991 9 26995656 [A/G] NM_001099223,NM_001099222,NM_001099224,NM_025103,NM_022901 IFT74,IFT74,IFT74,IFT74,LRRC19 EXON Silent,Silent,Silent,Silent,Missense_S326P exm744000 9 26995754 [A/C] NM_001099223,NM_001099222,NM_001099224,NM_025103,NM_022901 IFT74,IFT74,IFT74,IFT74,LRRC19 EXON Silent,Silent,Silent,Silent,Missense_C293F exm744001 9 26995766 [A/C] NM_001099223,NM_001099222,NM_001099224,NM_025103,NM_022901 IFT74,IFT74,IFT74,IFT74,LRRC19 EXON Silent,Silent,Silent,Silent,Missense_I289S exm744003 9 26995787 [A/G] NM_001099223,NM_001099222,NM_001099224,NM_025103,NM_022901 IFT74,IFT74,IFT74,IFT74,LRRC19 EXON Silent,Silent,Silent,Silent,Missense_T282M exm744006 9 26995821 [T/C] NM_001099223,NM_001099222,NM_001099224,NM_025103,NM_022901 IFT74,IFT74,IFT74,IFT74,LRRC19 EXON Silent,Silent,Silent,Silent,Missense_A271T exm744008 9 26996332 [A/G] NM_001099223,NM_001099222,NM_001099224,NM_025103,NM_022901 IFT74,IFT74,IFT74,IFT74,LRRC19 EXON Silent,Silent,Silent,Silent,Missense_S254L exm2193795 9 26996476 [T/C] NM_001099223,NM_001099222,NM_001099224,NM_025103,NM_022901 IFT74,IFT74,IFT74,IFT74,LRRC19 EXON Silent,Silent,Silent,Silent,Missense_C206Y exm744016 9 26996488 [T/G] NM_001099223,NM_001099222,NM_001099224,NM_025103,NM_022901 IFT74,IFT74,IFT74,IFT74,LRRC19 EXON Silent,Silent,Silent,Silent,Missense_N202T exm744022 9 26997860 [T/C] NM_001099223,NM_001099222,NM_001099224,NM_025103,NM_022901 IFT74,IFT74,IFT74,IFT74,LRRC19 EXON Silent,Silent,Silent,Silent,Missense_G154D exm744023 9 26997939 [T/G] NM_001099223,NM_001099222,NM_001099224,NM_025103,NM_022901 IFT74,IFT74,IFT74,IFT74,LRRC19 EXON Silent,Silent,Silent,Silent,Missense_L128I exm744025 9 26997968 [A/G] NM_001099223,NM_001099222,NM_001099224,NM_025103,NM_022901 IFT74,IFT74,IFT74,IFT74,LRRC19 EXON Silent,Silent,Silent,Silent,Missense_L118S exm744027 9 26997975 [T/C] NM_001099223,NM_001099222,NM_001099224,NM_025103,NM_022901 IFT74,IFT74,IFT74,IFT74,LRRC19 EXON Silent,Silent,Silent,Silent,Missense_A116T exm744029 9 26997998 [A/G] NM_001099223,NM_001099222,NM_001099224,NM_025103,NM_022901 IFT74,IFT74,IFT74,IFT74,LRRC19 EXON Silent,Silent,Silent,Silent,Missense_S108F exm744030 9 26998004 [C/G] NM_001099223,NM_001099222,NM_001099224,NM_025103,NM_022901 IFT74,IFT74,IFT74,IFT74,LRRC19 EXON Silent,Silent,Silent,Silent,Missense_R106T exm744032 9 26998047 [T/C] NM_001099223,NM_001099222,NM_001099224,NM_025103,NM_022901 IFT74,IFT74,IFT74,IFT74,LRRC19 EXON Silent,Silent,Silent,Silent,Missense_G92S exm744040 9 26998183 [A/C] NM_001099223,NM_001099222,NM_001099224,NM_025103,NM_022901 IFT74,IFT74,IFT74,IFT74,LRRC19 EXON Silent,Silent,Silent,Silent,Missense_K46N exm744041 9 26998189 [A/T] NM_001099223,NM_001099222,NM_001099224,NM_025103,NM_022901 IFT74,IFT74,IFT74,IFT74,LRRC19 EXON Silent,Silent,Silent,Silent,Missense_D44E exm744048 9 27009095 [T/C] NM_001099223,NM_001099222,NM_001099224,NM_025103 IFT74,IFT74,IFT74,IFT74 EXON Missense_M222T,Missense_M222T,Missense_M222T,Missense_M222T exm744049 9 27009100 [T/C] NM_001099223,NM_001099222,NM_001099224,NM_025103 IFT74,IFT74,IFT74,IFT74 EXON Missense_F224L,Missense_F224L,Missense_F224L,Missense_F224L exm744053 9 27011917 [T/A] NM_001099223,NM_001099222,NM_001099224,NM_025103 IFT74,IFT74,IFT74,IFT74 EXON Missense_L247H,Missense_L247H,Missense_L247H,Missense_L247H exm744061 9 27017017 [T/C] NM_001099223,NM_001099222,NM_001099224,NM_025103 IFT74,IFT74,IFT74,IFT74 EXON Missense_P301L,Missense_P301L,Missense_P301L,Missense_P301L exm744075 9 27036473 [A/G] NM_001099223,NM_001099222,NM_001099224,NM_025103 IFT74,IFT74,IFT74,IFT74 EXON Silent,Silent,Missense_I360M,Silent exm744076 9 27036487 [T/C] NM_001099223,NM_001099222,NM_001099224,NM_025103 IFT74,IFT74,IFT74,IFT74 EXON Silent,Silent,Missense_T365I,Silent exm744086 9 27048237 [A/G] NM_001099223,NM_001099222,NM_025103 IFT74,IFT74,IFT74 EXON Missense_Q433R,Missense_Q433R,Missense_Q433R exm744089 9 27055630 [A/C] NM_001099223,NM_001099222,NM_025103 IFT74,IFT74,IFT74 EXON Missense_L453M,Missense_L453M,Missense_L453M exm744090 9 27055671 [A/C] NM_001099223,NM_001099222,NM_025103 IFT74,IFT74,IFT74 EXON Missense_E466D,Missense_E466D,Missense_E466D exm744100 9 27056410 [T/C] NM_001099223,NM_001099222,NM_025103 IFT74,IFT74,IFT74 EXON Missense_Y526H,Missense_Y526H,Missense_Y526H exm744106 9 27060608 [A/G] NM_001099223,NM_001099222,NM_025103 IFT74,IFT74,IFT74 EXON Missense_K548R,Missense_K548R,Missense_K548R exm2274351 9 27060616 [T/C] NM_001099223,NM_001099222,NM_025103 IFT74,IFT74,IFT74 EXON Missense_H551Y,Missense_H551Y,Missense_H551Y exm744110 9 27062666 [A/G] NM_001099223,NM_001099222,NM_025103 IFT74,IFT74,IFT74 EXON Missense_V579M,Missense_V579M,Missense_V579M exm744113 9 27062721 [T/C] NM_001099223,NM_001099222,NM_025103 IFT74,IFT74,IFT74 EXON Missense_T597I,Missense_T597I,Missense_T597I exm744118 9 27109600 [A/C] NM_000459 TEK EXON Missense_L4F exm744128 9 27158009 [T/C] NM_000459 TEK EXON Missense_V78A exm744132 9 27158122 [A/G] NM_000459 TEK EXON Missense_M116V exm744138 9 27168571 [T/C] NM_000459 TEK EXON Missense_I148T exm744156 9 27183463 [A/C] NM_000459 TEK EXON Missense_Q346P exm744162 9 27183598 [T/C] NM_000459 TEK EXON Missense_T391I exm744166 9 27185549 [G/C] NM_000459 TEK EXON Missense_P417A exm2277382 9 27185594 [T/A] NM_000459 TEK EXON Missense_M432L exm744171 9 27185613 [A/G] NM_000459 TEK EXON Missense_N438S exm744172 9 27190545 [A/G] NM_000459 TEK EXON Missense_N449S exm744180 9 27190655 [A/G] NM_000459 TEK EXON Missense_V486I exm2193900 9 27192562 [A/G] NM_000459 TEK EXON Missense_R522H exm744190 9 27192618 [A/G] NM_000459 TEK EXON Missense_I541V exm744197 9 27197486 [T/G] NM_000459 TEK EXON Missense_V600L exm744201 9 27197588 [T/C] NM_000459 TEK EXON Missense_L634F exm744207 9 27202986 [T/C] NM_000459 TEK EXON Missense_T693I exm744209 9 27203078 [A/G] NM_000459 TEK EXON Missense_A724T exm744212 9 27204923 [A/G] NM_000459 TEK EXON Missense_G742R exm744214 9 27205004 [A/G] NM_000459 TEK EXON Missense_I769V exm744228 9 27212791 [A/G] NM_000459 TEK EXON Missense_A925T exm2271064 9 27212966 [T/C] NM_000459 TEK Silent exm744267 9 27284785 [T/G] NM_001161585,NM_020641 EQTN,EQTN EXON Missense_T245K,Missense_T274K exm744269 9 27284845 [T/C] NM_001161585,NM_020641 EQTN,EQTN EXON Missense_G225D,Missense_G254D exm744271 9 27284884 [G/C] NM_001161585,NM_020641 EQTN,EQTN EXON Missense_T212R,Missense_T241R exm744274 9 27284972 [T/C] NM_001161585,NM_020641 EQTN,EQTN Silent,Silent exm744279 9 27286259 [T/C] NM_001161585,NM_020641 EQTN,EQTN EXON Missense_V166M,Missense_V195M exm2193946 9 27286353 [T/A] NM_001161585,NM_020641 EQTN,EQTN EXON Missense_D134E,Missense_D163E exm744293 9 27292443 [T/C] NM_001161585,NM_020641 EQTN,EQTN EXON Silent,Missense_E111G exm744294 9 27292446 [A/G] NM_001161585,NM_020641 EQTN,EQTN EXON Silent,Missense_I110T exm744297 9 27292474 [T/C] NM_001161585,NM_020641 EQTN,EQTN EXON Silent,Missense_N101D exm744300 9 27294315 [A/G] NM_001161585,NM_020641 EQTN,EQTN EXON Synonymous_N96N,Synonymous_N96N exm744301 9 27294395 [A/T] NM_001161585,NM_020641 EQTN,EQTN EXON Missense_F70I,Missense_F70I exm744303 9 27296610 [T/C] NM_001161585,NM_020641 EQTN,EQTN Silent,Silent exm744309 9 27297053 [T/C] NM_001161585,NM_020641 EQTN,EQTN EXON Missense_M1V,Missense_M1V exm744321 9 27359081 [T/A] NM_024761 MOB3B EXON Missense_Y191F exm2259305 9 27414808 [A/G] NM_024761 MOB3B Silent exm744335 9 27455295 [A/C] NM_024761 MOB3B EXON Missense_R85L exm744340 9 27455490 [T/C] NM_024761 MOB3B EXON Missense_K20R exm-rs7046653 9 27490967 [A/G] NM_024761 MOB3B Silent exm744360 9 27524366 [A/G] NM_024761,NM_020124 MOB3B,IFNK EXON Silent,Missense_C11Y exm744362 9 27524372 [A/G] NM_024761,NM_020124 MOB3B,IFNK EXON Silent,Nonsense_W13X exm744366 9 27524468 [T/C] NM_024761,NM_020124 MOB3B,IFNK EXON Silent,Missense_L45P exm744370 9 27524597 [A/G] NM_024761,NM_020124 MOB3B,IFNK EXON Silent,Missense_Y88C exm744372 9 27524624 [A/T] NM_024761,NM_020124 MOB3B,IFNK EXON Silent,Missense_I97N exm744373 9 27524731 [A/G] NM_024761,NM_020124 MOB3B,IFNK EXON Silent,Missense_K133E exm-rs10812610 9 27533984 [A/C] exm-rs2814707 9 27536397 [T/C] exm-rs3849942 9 27543281 [T/C] exm2194001 9 27556664 [T/C] NM_001256054,NM_018325 C9orf72,C9orf72 EXON Missense_R329H,Missense_R329H exm744410 9 27556754 [A/G] NM_001256054,NM_018325 C9orf72,C9orf72 EXON Missense_M299T,Missense_M299T exm-rs774359 9 27561049 [T/C] NM_001256054,NM_018325,NM_145005 C9orf72,C9orf72,C9orf72 EXON Silent,Silent,Silent exm744426 9 27561628 [T/C] NM_001256054,NM_018325,NM_145005 C9orf72,C9orf72,C9orf72 EXON Missense_N207S,Missense_N207S,Missense_N207S exm744438 9 27566799 [T/C] NM_001256054,NM_018325,NM_145005 C9orf72,C9orf72,C9orf72 EXON Missense_R107H,Missense_R107H,Missense_R107H exm744443 9 27566973 [G/C] NM_001256054,NM_018325,NM_145005 C9orf72,C9orf72,C9orf72 EXON Missense_T49R,Missense_T49R,Missense_T49R exm2266897 9 27750375 [A/G] exm-rs1330199 9 27760946 [T/G] exm-rs7029145 9 27882653 [T/C] exm744459 9 27949076 [T/C] NM_152570,NM_001258282 LINGO2,LINGO2 EXON Missense_N532D,Missense_N532D exm2274352 9 27949096 [A/G] NM_152570,NM_001258282 LINGO2,LINGO2 EXON Missense_I525T,Missense_I525T exm744461 9 27949150 [T/C] NM_152570,NM_001258282 LINGO2,LINGO2 EXON Missense_R507H,Missense_R507H exm744462 9 27949160 [T/C] NM_152570,NM_001258282 LINGO2,LINGO2 EXON Missense_A504T,Missense_A504T exm744468 9 27949277 [T/C] NM_152570,NM_001258282 LINGO2,LINGO2 EXON Missense_D465N,Missense_D465N exm2194028 9 27949504 [A/C] NM_152570,NM_001258282 LINGO2,LINGO2 EXON Missense_R389L,Missense_R389L exm744487 9 27949697 [C/G] NM_152570,NM_001258282 LINGO2,LINGO2 EXON Missense_V325L,Missense_V325L exm744489 9 27949700 [A/G] NM_152570,NM_001258282 LINGO2,LINGO2 EXON Missense_R324C,Missense_R324C exm744502 9 27949895 [T/C] NM_152570,NM_001258282 LINGO2,LINGO2 EXON Missense_T259A,Missense_T259A exm2264342 9 28024647 [A/C] NM_152570,NM_001258282 LINGO2,LINGO2 Silent,Silent exm-rs10968576 9 28414339 [A/G] NM_152570,NM_001258282 LINGO2,LINGO2 Silent,Silent exm2266803 9 28415970 [A/G] NM_152570,NM_001258282 LINGO2,LINGO2 Silent,Silent exm2262632 9 28755357 [T/C] NM_001258282 LINGO2 Silent exm2266804 9 29024894 [A/G] NM_001258282 LINGO2 Silent exm2266805 9 29595350 [A/G] exm2271181 9 29815482 [T/G] exm2259310 9 29939556 [T/C] exm2266898 9 30476239 [A/G] exm2259311 9 30647718 [T/G] exm2264343 9 31163494 [A/C] exm2266899 9 31381021 [A/G] exm2266900 9 31819635 [A/G] exm2266806 9 31873011 [A/G] exm744546 9 32405589 [T/G] NM_002197 ACO1 EXON Missense_D29Y exm744550 9 32407304 [A/G] NM_002197 ACO1 EXON Missense_R48Q exm744551 9 32407324 [A/G] NM_002197 ACO1 EXON Missense_V55M exm744552 9 32407367 [T/C] NM_002197 ACO1 EXON Missense_T69M exm744554 9 32407406 [A/G] NM_002197 ACO1 EXON Missense_R82H exm744562 9 32408612 [A/G] NM_002197 ACO1 EXON Missense_V123I exm744570 9 32418353 [T/C] NM_002197 ACO1 EXON Missense_R168W exm744571 9 32418386 [T/C] NM_002197 ACO1 EXON Nonsense_Q179X exm744576 9 32418473 [A/G] NM_002197 ACO1 EXON Missense_T208A exm2259316 9 32419043 [T/C] NM_002197 ACO1 EXON Synonymous_G222G exm744589 9 32420933 [A/G] NM_002197 ACO1 EXON Missense_R293Q exm2194145 9 32421008 [T/C] NM_002197 ACO1 EXON Missense_T318M exm744599 9 32423391 [T/C] NM_002197 ACO1 EXON Missense_P349S exm744600 9 32424595 [A/G] NM_002197 ACO1 EXON Missense_K374E exm2248020 9 32424659 [A/C] NM_002197 ACO1 EXON Missense_A395D exm2194162 9 32427337 [A/G] NM_002197 ACO1 EXON Missense_V463M exm744613 9 32427406 [A/G] NM_002197 ACO1 EXON Missense_G486R exm744619 9 32429489 [A/C] NM_002197 ACO1 EXON Missense_E519D exm744621 9 32430510 [A/C] NM_002197 ACO1 EXON Missense_P555H exm744625 9 32431728 [A/C] NM_002197 ACO1 EXON Missense_K580Q exm744627 9 32431792 [A/G] NM_002197 ACO1 EXON Missense_R601H exm744651 9 32440462 [A/G] NM_002197 ACO1 Silent exm744652 9 32440488 [A/G] NM_002197 ACO1 EXON Missense_R758Q exm744660 9 32448927 [T/C] NM_002197 ACO1 EXON Missense_R802C exm744661 9 32448936 [T/C] NM_002197 ACO1 EXON Missense_R805C exm744675 9 32457151 [A/G] NM_014314 DDX58 EXON Missense_I916T exm744680 9 32457245 [A/G] NM_014314 DDX58 EXON Missense_P885S exm744690 9 32466308 [T/C] NM_014314 DDX58 EXON Missense_E773K exm744708 9 32477040 [A/G] NM_014314 DDX58 EXON Missense_Y622H exm744711 9 32477054 [A/G] NM_014314 DDX58 EXON Missense_I617T exm744717 9 32480222 [A/C] NM_014314 DDX58 EXON Missense_F590C exm744724 9 32481339 [T/C] NM_014314 DDX58 EXON Missense_R546Q exm744732 9 32481432 [A/G] NM_014314 DDX58 EXON Missense_T515I exm744740 9 32485278 [T/C] NM_014314 DDX58 Silent exm744748 9 32487567 [T/C] NM_014314 DDX58 EXON Missense_Y426C exm744751 9 32487627 [A/G] NM_014314 DDX58 EXON Missense_I406T exm744770 9 32489407 [T/C] NM_014314 DDX58 EXON Missense_N245S exm744781 9 32492529 [A/G] NM_014314 DDX58 EXON Missense_S144F exm744782 9 32493767 [T/G] NM_014314 DDX58 EXON Missense_I139L exm744786 9 32493884 [A/C] NM_014314 DDX58 EXON Missense_L100V exm744789 9 32493928 [A/G] NM_014314 DDX58 EXON Missense_L85P exm744790 9 32500832 [T/C] NM_014314 DDX58 EXON Missense_R71H exm744794 9 32526082 [T/G] NM_014314 DDX58 EXON Missense_Y28S exm744796 9 32526146 [A/G] NM_014314 DDX58 EXON Missense_R7C exm2266807 9 32534851 [A/G] exm744813 9 32541468 [C/G] NM_005802,NM_001195622 TOPORS,TOPORS EXON Missense_Q1019E,Missense_Q954E exm744821 9 32541732 [A/G] NM_005802,NM_001195622 TOPORS,TOPORS EXON Missense_P931S,Missense_P866S exm744827 9 32541828 [T/C] NM_005802,NM_001195622 TOPORS,TOPORS EXON Missense_D899N,Missense_D834N exm744832 9 32541880 [G/C] NM_005802,NM_001195622 TOPORS,TOPORS EXON Missense_H881Q,Missense_H816Q exm744835 9 32541956 [T/C] NM_005802,NM_001195622 TOPORS,TOPORS EXON Missense_K856R,Missense_K791R exm744837 9 32541998 [T/G] NM_005802,NM_001195622 TOPORS,TOPORS EXON Missense_T842N,Missense_T777N exm744838 9 32542016 [T/C] NM_005802,NM_001195622 TOPORS,TOPORS EXON Missense_Y836C,Missense_Y771C exm744855 9 32542278 [T/C] NM_005802,NM_001195622 TOPORS,TOPORS EXON Missense_N749D,Missense_N684D exm744863 9 32542476 [A/G] NM_005802,NM_001195622 TOPORS,TOPORS EXON Missense_R683W,Missense_R618W exm744864 9 32542479 [A/G] NM_005802,NM_001195622 TOPORS,TOPORS EXON Missense_S682P,Missense_S617P exm744866 9 32542505 [A/C] NM_005802,NM_001195622 TOPORS,TOPORS EXON Missense_R673L,Missense_R608L exm744876 9 32542793 [T/G] NM_005802,NM_001195622 TOPORS,TOPORS EXON Missense_S577Y,Missense_S512Y exm2259318 9 32542801 [T/C] NM_005802,NM_001195622 TOPORS,TOPORS EXON Synonymous_L574L,Synonymous_L509L exm744878 9 32542803 [C/G] NM_005802,NM_001195622 TOPORS,TOPORS EXON Missense_L574V,Missense_L509V exm744882 9 32542998 [T/C] NM_005802,NM_001195622 TOPORS,TOPORS EXON Missense_K509E,Missense_K444E exm744892 9 32543226 [T/C] NM_005802,NM_001195622 TOPORS,TOPORS EXON Missense_V433I,Missense_V368I exm744894 9 32543285 [T/G] NM_005802,NM_001195622 TOPORS,TOPORS EXON Missense_Q413P,Missense_Q348P exm744908 9 32543801 [A/G] NM_005802,NM_001195622 TOPORS,TOPORS EXON Missense_T241M,Missense_T176M exm744911 9 32543852 [T/C] NM_005802,NM_001195622 TOPORS,TOPORS EXON Missense_D224G,Missense_D159G exm744920 9 32544171 [A/G] NM_005802,NM_001195622 TOPORS,TOPORS EXON Missense_R118C,Missense_R53C exm744925 9 32550896 [G/C] NM_005802,NM_001195622 TOPORS,TOPORS EXON Missense_S25W,Silent exm744938 9 32553935 [A/G] NM_182739,NM_002493,NM_001199987 NDUFB6,NDUFB6,NDUFB6 EXON Missense_T94I,Missense_T109I,Missense_T78I exm744949 9 32570989 [A/G] NM_182739,NM_002493,NM_001199987 NDUFB6,NDUFB6,NDUFB6 EXON Missense_I81T,Missense_I81T,Silent exm744952 9 32572932 [T/C] NM_182739,NM_002493,NM_001199987 NDUFB6,NDUFB6,NDUFB6 EXON Missense_M43V,Missense_M43V,Missense_M43V exm744955 9 32572983 [C/G] NM_182739,NM_002493,NM_001199987 NDUFB6,NDUFB6,NDUFB6 EXON Missense_Q26E,Missense_Q26E,Missense_Q26E exm745037 9 32630149 [A/G] NM_153809 TAF1L EXON Missense_P1810L exm745046 9 32630282 [T/C] NM_153809 TAF1L EXON Missense_I1766V exm745048 9 32630324 [T/C] NM_153809 TAF1L EXON Missense_V1752I exm745052 9 32630385 [T/G] NM_153809 TAF1L EXON Missense_K1731N exm745057 9 32630521 [T/C] NM_153809 TAF1L EXON Missense_D1686G exm745072 9 32630993 [T/G] NM_153809 TAF1L EXON Missense_I1529L exm745086 9 32631388 [T/C] NM_153809 TAF1L EXON Missense_R1397H exm745088 9 32631409 [T/C] NM_153809 TAF1L EXON Missense_H1390R exm745091 9 32631511 [T/C] NM_153809 TAF1L EXON Missense_R1356H exm745092 9 32631512 [A/G] NM_153809 TAF1L EXON Missense_R1356C exm745098 9 32631781 [C/G] NM_153809 TAF1L EXON Missense_P1266R exm745101 9 32631893 [A/C] NM_153809 TAF1L EXON Missense_A1229S exm745109 9 32632072 [A/G] NM_153809 TAF1L EXON Missense_T1169I exm745116 9 32632339 [T/C] NM_153809 TAF1L EXON Missense_R1080H exm745137 9 32632775 [T/C] NM_153809 TAF1L EXON Missense_E935K exm745142 9 32632940 [A/G] NM_153809 TAF1L EXON Missense_W880R exm745144 9 32632963 [T/C] NM_153809 TAF1L EXON Missense_K872R exm745152 9 32633065 [T/C] NM_153809 TAF1L EXON Missense_K838R exm745154 9 32633087 [A/G] NM_153809 TAF1L EXON Missense_Y831H exm745158 9 32633294 [C/G] NM_153809 TAF1L EXON Missense_L762V exm745166 9 32633560 [T/C] NM_153809 TAF1L EXON Missense_R673K exm745175 9 32633735 [T/C] NM_153809 TAF1L EXON Missense_M615V exm745176 9 32633767 [T/C] NM_153809 TAF1L EXON Missense_G604E exm745178 9 32633780 [A/G] NM_153809 TAF1L EXON Missense_R600W exm745182 9 32633948 [A/G] NM_153809 TAF1L EXON Missense_P544S exm745209 9 32634586 [A/G] NM_153809 TAF1L EXON Missense_T331M exm745219 9 32634743 [A/G] NM_153809 TAF1L EXON Missense_R279W exm745224 9 32634811 [C/G] NM_153809 TAF1L EXON Missense_G256A exm745239 9 32635093 [A/G] NM_153809 TAF1L EXON Missense_P162L exm745242 9 32635144 [T/G] NM_153809 TAF1L EXON Missense_A145D exm745243 9 32635157 [T/C] NM_153809 TAF1L EXON Missense_D141N exm745245 9 32635171 [G/C] NM_153809 TAF1L EXON Missense_S136W exm2259319 9 32635308 [T/G] NM_153809 TAF1L EXON Synonymous_G90G exm745255 9 32635424 [T/C] NM_153809 TAF1L EXON Missense_E52K exm2266901 9 32695752 [A/G] exm745267 9 32784218 [A/G] NM_212558 TMEM215 EXON Missense_V13M exm745273 9 32784410 [A/G] NM_212558 TMEM215 EXON Missense_V77I exm745275 9 32784432 [A/G] NM_212558 TMEM215 EXON Missense_R84Q exm745277 9 32784500 [A/G] NM_212558 TMEM215 EXON Missense_S107G exm745285 9 32784629 [G/C] NM_212558 TMEM215 EXON Missense_V150L exm745289 9 32784779 [T/C] NM_212558 TMEM215 EXON Missense_P200S exm2259320 9 32784838 [T/C] NM_212558 TMEM215 EXON Synonymous_C219C exm745292 9 32784875 [A/G] NM_212558 TMEM215 EXON Missense_E232K exm745297 9 32973554 [A/T] NR_036577,NR_036576,NR_036579,NR_036578,NM_175069,NM_001195254,NM_001195250,NM_001195251,NM_001195252,NM_001195249,NM_175073,NM_001195248 APTX,APTX,APTX,APTX,APTX,APTX,APTX,APTX,APTX,APTX,APTX,APTX EXON Silent,Silent,Silent,Silent,Silent,Missense_Q270L,Missense_Q284L,Silent,Missense_Q266L,Missense_Q324L,Missense_Q324L,Missense_Q338L exm745312 9 32974493 [T/C] NR_036577,NR_036576,NR_036579,NR_036578,NM_175069,NM_001195254,NM_001195250,NM_001195251,NM_001195252,NM_001195249,NM_175073,NM_001195248 APTX,APTX,APTX,APTX,APTX,APTX,APTX,APTX,APTX,APTX,APTX,APTX EXON Silent,Silent,Silent,Silent,Nonsense_W293X,Nonsense_W225X,Nonsense_W239X,Nonsense_W279X,Nonsense_W221X,Nonsense_W279X,Nonsense_W279X,Nonsense_W293X exm745315 9 32984657 [T/A] NR_036577,NR_036576,NR_036579,NR_036578,NM_175069,NM_001195254,NM_001195250,NM_001195251,NM_001195252,NM_001195249,NM_175073,NM_001195248 APTX,APTX,APTX,APTX,APTX,APTX,APTX,APTX,APTX,APTX,APTX,APTX EXON Silent,Silent,Silent,Silent,Missense_L262M,Missense_L194M,Missense_L208M,Missense_L248M,Missense_L190M,Missense_L248M,Missense_L248M,Missense_L262M exm745324 9 32984803 [T/C] NR_036577,NR_036576,NR_036579,NR_036578,NM_175069,NM_001195254,NM_001195250,NM_001195251,NM_001195252,NM_001195249,NM_175073,NM_001195248 APTX,APTX,APTX,APTX,APTX,APTX,APTX,APTX,APTX,APTX,APTX,APTX EXON Silent,Silent,Silent,Silent,Missense_R213H,Missense_R145H,Missense_R159H,Missense_R199H,Missense_R141H,Missense_R199H,Missense_R199H,Missense_R213H exm745339 9 32987568 [T/C] NR_036577,NR_036576,NR_036579,NR_036578,NM_175069,NM_001195254,NM_001195250,NM_001195251,NM_001195252,NM_001195249,NM_175073,NM_001195248 APTX,APTX,APTX,APTX,APTX,APTX,APTX,APTX,APTX,APTX,APTX,APTX EXON Silent,Silent,Silent,Silent,Missense_K167E,Missense_K99E,Missense_K113E,Missense_K153E,Silent,Missense_K153E,Missense_K153E,Missense_K167E exm745342 9 32987594 [T/G] NR_036577,NR_036576,NR_036579,NR_036578,NM_175069,NM_001195254,NM_001195250,NM_001195251,NM_001195252,NM_001195249,NM_175073,NM_001195248 APTX,APTX,APTX,APTX,APTX,APTX,APTX,APTX,APTX,APTX,APTX,APTX EXON Silent,Silent,Silent,Silent,Missense_S158Y,Missense_S90Y,Missense_S104Y,Missense_S144Y,Silent,Missense_S144Y,Missense_S144Y,Missense_S158Y exm745353 9 32987842 [T/C] NR_036577,NR_036576,NR_036579,NR_036578,NM_175069,NM_001195254,NM_001195250,NM_001195251,NM_001195252,NM_001195249,NM_175073,NM_001195248 APTX,APTX,APTX,APTX,APTX,APTX,APTX,APTX,APTX,APTX,APTX,APTX Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm745365 9 32989872 [A/C] NR_036577,NR_036576,NR_036579,NR_036578,NM_175069,NM_001195254,NM_001195250,NM_001195251,NM_001195252,NM_001195249,NM_175073,NM_001195248 APTX,APTX,APTX,APTX,APTX,APTX,APTX,APTX,APTX,APTX,APTX,APTX EXON Silent,Silent,Silent,Silent,Missense_W20C,Missense_W6C,Missense_W20C,Missense_W6C,Missense_W20C,Missense_W6C,Missense_W6C,Missense_W20C exm745373 9 33001564 [A/C] NR_036577,NR_036576,NR_036579,NR_036578,NM_175069,NM_001195254,NM_001195250,NM_001195251,NM_001195252,NM_001195249,NM_175073,NM_001195248 APTX,APTX,APTX,APTX,APTX,APTX,APTX,APTX,APTX,APTX,APTX,APTX EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm2248032 9 33036604 [T/C] NM_001539 DNAJA1 EXON Missense_I264T exm2248034 9 33062154 [A/G] NM_018225 SMU1 EXON Nonsense_Q175X exm2248035 9 33062159 [A/T] NM_018225 SMU1 EXON Missense_Q173L exm745477 9 33116056 [G/C] NM_001497 B4GALT1 EXON Missense_L298V exm745479 9 33120483 [T/C] NM_001497 B4GALT1 EXON Missense_H257R exm745487 9 33135318 [T/C] NM_001497 B4GALT1 EXON Missense_V173I exm745504 9 33167141 [T/G] NM_001497 B4GALT1 EXON Missense_S9R exm2266808 9 33192940 [A/G] exm745515 9 33240216 [T/C] NM_014471 SPINK4 EXON Missense_R4C exm2194448 9 33240217 [A/G] NM_014471 SPINK4 EXON Missense_R4H exm745516 9 33240225 [A/G] NM_014471 SPINK4 EXON Missense_V7I exm745526 9 33246639 [T/C] NM_014471 SPINK4 EXON Missense_S43F exm745528 9 33246696 [T/C] NM_014471 SPINK4 EXON Missense_T62M exm745538 9 33255239 [A/G] NM_001172415,NM_004323 BAG1,BAG1 EXON Missense_T224I,Missense_T339I exm745540 9 33255252 [A/G] NM_001172415,NM_004323 BAG1,BAG1 EXON Missense_R220W,Missense_R335W exm745545 9 33255882 [G/C] NM_001172415,NM_004323 BAG1,BAG1 EXON Missense_G195A,Missense_G310A exm745547 9 33255901 [T/C] NM_001172415,NM_004323 BAG1,BAG1 EXON Missense_S189G,Missense_S304G exm745551 9 33256825 [T/C] NM_001172415,NM_004323 BAG1,BAG1 EXON Missense_K172E,Missense_K287E exm745552 9 33256854 [T/C] NM_001172415,NM_004323 BAG1,BAG1 EXON Missense_R162K,Missense_R277K exm745561 9 33261122 [A/G] NM_001172415,NM_004323 BAG1,BAG1 EXON Missense_I94T,Missense_I209T exm2248037 9 33264410 [A/C] NM_001172415,NM_004323 BAG1,BAG1 EXON Silent,Missense_R88L exm745596 9 33266075 [A/C] NM_016410,NM_001195536 CHMP5,CHMP5 EXON Missense_K46T,Missense_K46T exm-rs12336160 9 33283582 [T/G] exm745623 9 33294549 [T/C] NM_002504,NM_147133,NM_147134 NFX1,NFX1,NFX1 EXON Missense_P53S,Missense_P53S,Missense_P53S exm745624 9 33294555 [T/C] NM_002504,NM_147133,NM_147134 NFX1,NFX1,NFX1 EXON Missense_H55Y,Missense_H55Y,Missense_H55Y exm745626 9 33294636 [A/C] NM_002504,NM_147133,NM_147134 NFX1,NFX1,NFX1 EXON Missense_S82R,Missense_S82R,Missense_S82R exm745629 9 33294738 [A/G] NM_002504,NM_147133,NM_147134 NFX1,NFX1,NFX1 EXON Missense_I116V,Missense_I116V,Missense_I116V exm745633 9 33295012 [C/G] NM_002504,NM_147133,NM_147134 NFX1,NFX1,NFX1 EXON Missense_S207T,Missense_S207T,Missense_S207T exm2194496 9 33295074 [A/T] NM_002504,NM_147133,NM_147134 NFX1,NFX1,NFX1 EXON Missense_L228M,Missense_L228M,Missense_L228M exm745639 9 33295206 [A/G] NM_002504,NM_147133,NM_147134 NFX1,NFX1,NFX1 EXON Missense_A272T,Missense_A272T,Missense_A272T exm745641 9 33295252 [A/G] NM_002504,NM_147133,NM_147134 NFX1,NFX1,NFX1 EXON Missense_N287S,Missense_N287S,Missense_N287S exm745642 9 33295288 [A/G] NM_002504,NM_147133,NM_147134 NFX1,NFX1,NFX1 EXON Missense_N299S,Missense_N299S,Missense_N299S exm745648 9 33301359 [T/C] NM_002504,NM_147133,NM_147134 NFX1,NFX1,NFX1 EXON Missense_Y378H,Missense_Y378H,Missense_Y378H exm745655 9 33311139 [T/C] NM_002504,NM_147133,NM_147134 NFX1,NFX1,NFX1 EXON Missense_A471V,Missense_A471V,Missense_A471V exm745658 9 33313662 [T/C] NM_002504,NM_147133,NM_147134 NFX1,NFX1,NFX1 EXON Missense_R487C,Missense_R487C,Missense_R487C exm745659 9 33313688 [G/C] NM_002504,NM_147133,NM_147134 NFX1,NFX1,NFX1 EXON Missense_H495Q,Missense_H495Q,Missense_H495Q exm745660 9 33313696 [A/G] NM_002504,NM_147133,NM_147134 NFX1,NFX1,NFX1 EXON Missense_N498S,Missense_N498S,Missense_N498S exm745665 9 33318728 [A/G] NM_002504,NM_147133,NM_147134 NFX1,NFX1,NFX1 Silent,Silent,Silent exm2194514 9 33318729 [T/C] NM_002504,NM_147133,NM_147134 NFX1,NFX1,NFX1 EXON Missense_V530A,Missense_V530A,Missense_V530A exm745670 9 33318937 [T/C] NM_002504,NM_147133,NM_147134 NFX1,NFX1,NFX1 EXON Missense_S573L,Missense_S573L,Missense_S573L exm745671 9 33318975 [T/C] NM_002504,NM_147133,NM_147134 NFX1,NFX1,NFX1 EXON Missense_R586W,Missense_R586W,Missense_R586W exm745676 9 33319045 [A/G] NM_002504,NM_147133,NM_147134 NFX1,NFX1,NFX1 EXON Missense_S609N,Missense_S609N,Missense_S609N exm2271182 9 33343397 [T/G] NM_002504,NM_147133,NM_147134 NFX1,NFX1,NFX1 Silent,Silent,Silent exm745699 9 33347059 [A/G] NM_002504,NM_147133,NM_147134 NFX1,NFX1,NFX1 EXON Missense_E790K,Missense_E790K,Missense_E790K exm745705 9 33351709 [T/C] NM_002504,NM_147133 NFX1,NFX1 EXON Missense_P859L,Missense_P859L exm745708 9 33351730 [T/C] NM_002504,NM_147133 NFX1,NFX1 EXON Missense_P866L,Missense_P866L exm745727 9 33364731 [A/G] NM_002504,NM_147133 NFX1,NFX1 EXON Missense_V1000I,Missense_V1000I exm2194543 9 33366663 [A/G] NM_002504 NFX1 EXON Missense_M1026V exm745734 9 33366682 [A/G] NM_002504 NFX1 EXON Missense_R1032Q exm745740 9 33367523 [A/G] NM_002504 NFX1 EXON Missense_V1066I exm745744 9 33367574 [T/C] NM_002504 NFX1 EXON Missense_R1083W exm2248041 9 33367584 [A/C] NM_002504 NFX1 EXON Missense_P1086Q exm745745 9 33367587 [T/C] NM_002504 NFX1 EXON Missense_P1087L exm745749 9 33369924 [T/C] NM_002504 NFX1 EXON Missense_L1104S exm745751 9 33369963 [A/T] NM_002504 NFX1 EXON Missense_D1117V exm745752 9 33369965 [A/G] NM_002504 NFX1 EXON Missense_V1118I exm745759 9 33385047 [A/G] NM_001170 AQP7 EXON Missense_P329S exm745760 9 33385070 [A/G] NM_001170 AQP7 EXON Missense_P321L exm745761 9 33385077 [T/C] NM_001170 AQP7 EXON Missense_V319M exm2194551 9 33385083 [T/C] NM_001170 AQP7 EXON Missense_V317I exm745791 9 33385733 [T/C] NM_001170 AQP7 EXON Missense_M219I exm745794 9 33385771 [T/C] NM_001170 AQP7 EXON Missense_G207S exm745796 9 33385786 [G/C] NM_001170 AQP7 EXON Missense_E202Q exm745815 9 33386193 [A/G] NM_001170 AQP7 EXON Missense_T136M exm745831 9 33386489 [T/C] NM_001170 AQP7 EXON Missense_V107M exm745857 9 33387044 [T/A] NM_001170 AQP7 EXON Missense_Y64F exm745876 9 33395119 [T/A] NM_001170 AQP7 EXON Missense_V34E exm745888 9 33401245 [T/C] NM_001170 AQP7 EXON Missense_G6R exm2266809 9 33426434 [A/G] exm745892 9 33442044 [G/C] NM_004925 AQP3 EXON Missense_I292M exm745925 9 33443872 [T/C] NM_004925 AQP3 EXON Missense_V43M exm745935 9 33462750 [T/C] NM_022917,NM_139235 NOL6,NOL6 EXON Missense_N1118S,Missense_N671S exm745936 9 33462753 [A/G] NM_022917,NM_139235 NOL6,NOL6 EXON Missense_P1117L,Missense_P670L exm745938 9 33462777 [T/C] NM_022917,NM_139235 NOL6,NOL6 EXON Missense_R1109Q,Missense_R662Q exm745939 9 33462792 [T/C] NM_022917,NM_139235 NOL6,NOL6 EXON Missense_R1104H,Missense_R657H exm745944 9 33463255 [A/G] NM_022917,NM_139235 NOL6,NOL6 EXON Missense_T1060M,Silent exm745946 9 33463295 [T/G] NM_022917,NM_139235 NOL6,NOL6 EXON Missense_M1047L,Silent exm745954 9 33463420 [A/G] NM_022917,NM_139235 NOL6,NOL6 EXON Missense_L1005S,Silent exm745958 9 33463848 [T/C] NM_022917,NM_139235 NOL6,NOL6 EXON Missense_R992Q,Silent exm745965 9 33464076 [A/G] NM_022917,NM_139235 NOL6,NOL6 EXON Missense_R955C,Silent exm745972 9 33464897 [T/C] NM_022917,NM_139235 NOL6,NOL6 EXON Missense_N920S,Silent exm745981 9 33465784 [A/G] NM_022917,NM_139235 NOL6,NOL6 EXON Missense_R826C,Silent exm745999 9 33466088 [A/G] NM_022917,NM_139235 NOL6,NOL6 EXON Missense_T782M,Silent exm746001 9 33466142 [T/C] NM_022917,NM_139235 NOL6,NOL6 EXON Missense_R764H,Silent exm746008 9 33466306 [T/C] NM_022917,NM_139235 NOL6,NOL6 EXON Missense_V737M,Silent exm746013 9 33466348 [A/G] NM_022917,NM_139235 NOL6,NOL6 EXON Missense_R723W,Silent exm746015 9 33466372 [A/G] NM_022917,NM_139235 NOL6,NOL6 EXON Missense_R715W,Silent exm746025 9 33466659 [T/C] NM_022917,NM_139235 NOL6,NOL6 EXON Missense_D667N,Silent exm746027 9 33466673 [A/G] NM_022917,NM_139235 NOL6,NOL6 EXON Missense_A662V,Silent exm746031 9 33466951 [T/C] NM_022917,NM_139235 NOL6,NOL6 EXON Missense_V637M,Missense_V637M exm746039 9 33467226 [A/G] NM_022917,NM_139235 NOL6,NOL6 EXON Missense_S587L,Missense_S587L exm746045 9 33467469 [C/G] NM_022917,NM_139235 NOL6,NOL6 EXON Missense_L550V,Missense_L550V exm746047 9 33467729 [T/C] NM_022917,NM_139235 NOL6,NOL6 EXON Missense_R521Q,Missense_R521Q exm746059 9 33467862 [A/G] NM_022917,NM_139235 NOL6,NOL6 EXON Missense_R477C,Missense_R477C exm2194658 9 33468419 [A/G] NM_022917,NM_139235 NOL6,NOL6 EXON Missense_P403L,Missense_P403L exm746076 9 33468792 [T/C] NM_022917,NM_139235 NOL6,NOL6 EXON Missense_M369V,Missense_M369V exm746077 9 33468801 [A/G] NM_022917,NM_139235 NOL6,NOL6 EXON Missense_H366Y,Missense_H366Y exm746085 9 33469063 [T/G] NM_022917,NM_139235 NOL6,NOL6 EXON Missense_L307I,Missense_L307I exm746086 9 33469096 [A/G] NM_022917,NM_139235 NOL6,NOL6 EXON Missense_R296C,Missense_R296C exm746094 9 33469280 [A/G] NM_022917,NM_139235 NOL6,NOL6 EXON Missense_R263C,Missense_R263C exm746100 9 33469515 [C/G] NM_022917,NM_139235 NOL6,NOL6 EXON Missense_L237V,Missense_L237V exm746102 9 33469590 [A/G] NM_022917,NM_139235 NOL6,NOL6 EXON Missense_H212Y,Missense_H212Y exm746104 9 33469631 [T/C] NM_022917,NM_139235 NOL6,NOL6 EXON Missense_R198H,Missense_R198H exm746110 9 33470050 [T/C] NM_022917,NM_139235 NOL6,NOL6 EXON Missense_R173Q,Missense_R173Q exm746112 9 33470081 [T/C] NM_022917,NM_139235 NOL6,NOL6 EXON Missense_V163M,Missense_V163M exm746114 9 33470111 [A/G] NM_022917,NM_139235 NOL6,NOL6 EXON Missense_R153C,Missense_R153C exm746120 9 33472052 [A/G] NM_022917,NM_139235 NOL6,NOL6 EXON Missense_R110W,Missense_R110W exm746122 9 33472070 [A/G] NM_022917,NM_139235 NOL6,NOL6 EXON Missense_R104W,Missense_R104W exm746124 9 33472253 [T/C] NM_022917,NM_139235 NOL6,NOL6 EXON Missense_R71H,Missense_R71H exm746128 9 33472307 [A/G] NM_022917,NM_139235 NOL6,NOL6 EXON Missense_V53A,Missense_V53A exm746129 9 33472311 [A/G] NM_022917,NM_139235 NOL6,NOL6 EXON Missense_P52S,Missense_P52S exm746131 9 33472350 [A/G] NM_022917,NM_139235 NOL6,NOL6 EXON Missense_R39C,Missense_R39C exm746233 9 33796673 [A/G] NM_001197097,NM_007343,NM_001197098,NM_002771 PRSS3,PRSS3,PRSS3,PRSS3 EXON Missense_V39I,Missense_V82I,Missense_V18I,Missense_V25I exm746244 9 33796758 [A/T] NM_001197097,NM_007343,NM_001197098,NM_002771 PRSS3,PRSS3,PRSS3,PRSS3 EXON Missense_I67N,Missense_I110N,Missense_I46N,Missense_I53N exm746265 9 33797898 [T/C] NM_001197097,NM_007343,NM_001197098,NM_002771 PRSS3,PRSS3,PRSS3,PRSS3 EXON Missense_A105V,Missense_A148V,Missense_A84V,Missense_A91V exm746266 9 33797909 [T/C] NM_001197097,NM_007343,NM_001197098,NM_002771 PRSS3,PRSS3,PRSS3,PRSS3 EXON Missense_R109C,Missense_R152C,Missense_R88C,Missense_R95C exm746267 9 33797910 [A/G] NM_001197097,NM_007343,NM_001197098,NM_002771 PRSS3,PRSS3,PRSS3,PRSS3 EXON Missense_R109H,Missense_R152H,Missense_R88H,Missense_R95H exm746269 9 33797932 [G/C] NM_001197097,NM_007343,NM_001197098,NM_002771 PRSS3,PRSS3,PRSS3,PRSS3 EXON Missense_D116E,Missense_D159E,Missense_D95E,Missense_D102E exm746270 9 33797951 [A/C] NM_001197097,NM_007343,NM_001197098,NM_002771 PRSS3,PRSS3,PRSS3,PRSS3 EXON Missense_M123L,Missense_M166L,Missense_M102L,Missense_M109L exm746273 9 33797969 [T/A] NM_001197097,NM_007343,NM_001197098,NM_002771 PRSS3,PRSS3,PRSS3,PRSS3 EXON Missense_S129T,Missense_S172T,Missense_S108T,Missense_S115T exm746277 9 33797991 [A/G] NM_001197097,NM_007343,NM_001197098,NM_002771 PRSS3,PRSS3,PRSS3,PRSS3 EXON Missense_R136H,Missense_R179H,Missense_R115H,Missense_R122H exm746293 9 33798528 [A/G] NM_001197097,NM_007343,NM_001197098,NM_002771 PRSS3,PRSS3,PRSS3,PRSS3 EXON Missense_T181A,Missense_T224A,Missense_T160A,Missense_T167A exm-rs216345 9 33799370 [T/C] exm746338 9 33886897 [A/G] NM_017811 UBE2R2 EXON Missense_I66V exm2259325 9 33886905 [T/C] NM_017811 UBE2R2 EXON Synonymous_Y68Y exm2259326 9 33917088 [T/C] NM_017811 UBE2R2 EXON Synonymous_Y190Y exm746371 9 33922582 [A/G] NM_018449 UBAP2 EXON Missense_R1094C exm746377 9 33922711 [A/G] NM_018449 UBAP2 EXON Missense_H1080Y exm746383 9 33922791 [A/G] NM_018449 UBAP2 EXON Missense_S1053L exm746386 9 33922873 [A/G] NM_018449 UBAP2 EXON Missense_F1026L exm746392 9 33923249 [A/G] NM_018449 UBAP2 EXON Missense_S980F exm746404 9 33923867 [A/G] NM_018449 UBAP2 EXON Missense_P908S exm746406 9 33923902 [A/G] NM_018449 UBAP2 EXON Missense_T896I exm746409 9 33923983 [A/C] NM_018449 UBAP2 EXON Missense_F869C exm746433 9 33927880 [C/G] NM_018449 UBAP2 EXON Missense_M762I exm746434 9 33927899 [A/G] NM_018449 UBAP2 EXON Missense_A756V exm746437 9 33927914 [A/G] NM_018449 UBAP2 EXON Missense_S751F exm746444 9 33927983 [T/C] NM_018449 UBAP2 EXON Missense_S728N exm2259327 9 33933523 [A/G] NM_018449 UBAP2 EXON Synonymous_G691G exm746470 9 33941702 [T/C] NM_018449 UBAP2 EXON Missense_R625K exm746474 9 33941759 [T/C] NM_018449 UBAP2 EXON Missense_N606S exm746476 9 33941786 [A/G] NM_018449 UBAP2 EXON Missense_S597F exm746478 9 33941796 [T/C] NM_018449 UBAP2 EXON Missense_V594I exm746484 9 33943430 [A/G] NM_018449 UBAP2 EXON Missense_S568L exm746487 9 33943505 [A/G] NM_018449 UBAP2 EXON Missense_S543L exm2194759 9 33944382 [T/C] NM_018449 UBAP2 EXON Missense_R509Q exm746496 9 33944421 [T/G] NM_018449 UBAP2 EXON Missense_H496P exm746497 9 33944445 [A/G] NM_018449 UBAP2 EXON Missense_I488T exm746501 9 33944496 [T/C] NM_018449 UBAP2 EXON Missense_G471E exm746503 9 33944586 [T/C] NM_018449 UBAP2 EXON Missense_R441Q exm2194762 9 33944624 [T/A] NM_018449 UBAP2 EXON Missense_Q428H exm746516 9 33953294 [A/G] NM_018449 UBAP2 EXON Missense_P349S exm746520 9 33953414 [T/G] NM_018449 UBAP2 EXON Missense_N309H exm746521 9 33953435 [A/G] NM_018449 UBAP2 EXON Missense_H302Y exm746524 9 33956096 [T/G] NM_018449 UBAP2 EXON Missense_H283N exm746525 9 33956113 [G/C] NM_018449 UBAP2 EXON Missense_S277C exm746528 9 33963768 [T/C] NM_018449 UBAP2 EXON Missense_N234S exm746539 9 33986799 [A/G] NM_018449 UBAP2 EXON Missense_V160A exm746540 9 33986805 [T/C] NM_018449 UBAP2 EXON Missense_N158S exm746542 9 33986826 [T/C] NM_018449 UBAP2 EXON Missense_E151G exm746547 9 33988985 [T/C] NM_018449 UBAP2 EXON Missense_N143S exm746551 9 33989025 [A/G] NM_018449 UBAP2 EXON Missense_R130C exm2194786 9 33989028 [A/T] NM_018449 UBAP2 EXON Missense_S129C exm2194790 9 33998844 [T/G] NM_018449 UBAP2 EXON Missense_R40S exm746561 9 33998847 [T/C] NM_018449 UBAP2 EXON Missense_M39V exm746567 9 34017106 [T/C] NM_018449 UBAP2 EXON Missense_R14Q exm746568 9 34017115 [T/C] NM_018449 UBAP2 EXON Missense_R11Q exm746569 9 34017146 [T/C] NM_018449 UBAP2 EXON Missense_M1V exm-rs7871764 9 34071541 [T/G] exm746588 9 34093400 [A/G] NM_015397 DCAF12 EXON Missense_A303V exm746589 9 34093418 [T/C] NM_015397 DCAF12 EXON Missense_R297H exm746590 9 34093419 [A/G] NM_015397 DCAF12 EXON Missense_R297C exm746594 9 34098370 [T/G] NM_015397 DCAF12 EXON Missense_N249K exm2194814 9 34098452 [A/G] NM_015397 DCAF12 EXON Missense_A222V exm746596 9 34098467 [A/G] NM_015397 DCAF12 EXON Missense_L217S exm2248060 9 34106444 [T/C] NM_015397 DCAF12 EXON Missense_M197V exm746603 9 34106490 [A/C] NM_015397 DCAF12 EXON Missense_D181E exm746611 9 34107505 [T/C] NM_015397 DCAF12 EXON Missense_R131Q exm2271067 9 34151280 [T/G] exm746625 9 34179037 [A/T] NR_033243,NM_001171201,NM_001171203,NM_016525,NM_001171202,NM_001171204 UBAP1,UBAP1,UBAP1,UBAP1,UBAP1,UBAP1 EXON Silent,Missense_R9W,Silent,Silent,Missense_R9W,Silent exm746636 9 34241267 [A/C] NR_033243,NM_001171201,NM_001171203,NM_016525,NM_001171202,NM_001171204 UBAP1,UBAP1,UBAP1,UBAP1,UBAP1,UBAP1 EXON Silent,Missense_K146Q,Missense_K82Q,Missense_K82Q,Missense_K118Q,Missense_K82Q exm746653 9 34241616 [A/G] NR_033243,NM_001171201,NM_001171203,NM_016525,NM_001171202,NM_001171204 UBAP1,UBAP1,UBAP1,UBAP1,UBAP1,UBAP1 EXON Silent,Missense_N262S,Missense_N198S,Missense_N198S,Missense_N234S,Missense_N198S exm746655 9 34241681 [T/C] NR_033243,NM_001171201,NM_001171203,NM_016525,NM_001171202,NM_001171204 UBAP1,UBAP1,UBAP1,UBAP1,UBAP1,UBAP1 EXON Silent,Missense_R284W,Missense_R220W,Missense_R220W,Missense_R256W,Missense_R220W exm746669 9 34242106 [A/G] NR_033243,NM_001171201,NM_001171203,NM_016525,NM_001171202,NM_001171204 UBAP1,UBAP1,UBAP1,UBAP1,UBAP1,UBAP1 EXON Silent,Synonymous_T425T,Synonymous_T361T,Synonymous_T361T,Synonymous_T397T,Synonymous_T361T exm2194839 9 34249882 [A/G] NR_033243,NM_001171201,NM_001171203,NM_016525,NM_001171202,NM_001171204 UBAP1,UBAP1,UBAP1,UBAP1,UBAP1,UBAP1 EXON Silent,Missense_E461K,Missense_E397K,Missense_E397K,Missense_E433K,Missense_E397K exm746697 9 34254425 [T/G] NM_194313 KIF24 EXON Missense_T1354P exm746705 9 34254496 [T/C] NM_194313 KIF24 EXON Missense_Q1330R exm746710 9 34255799 [A/G] NM_194313 KIF24 EXON Missense_P1269L exm746711 9 34255823 [G/C] NM_194313 KIF24 EXON Missense_R1261T exm746713 9 34255885 [T/G] NM_194313 KIF24 EXON Missense_D1240E exm746721 9 34256074 [G/C] NM_194313 KIF24 EXON Missense_E1177D exm746724 9 34256131 [A/C] NM_194313 KIF24 EXON Missense_E1158D exm746726 9 34256171 [G/C] NM_194313 KIF24 EXON Missense_S1145T exm2194862 9 34256199 [A/G] NM_194313 KIF24 EXON Missense_R1136C exm746728 9 34256235 [T/C] NM_194313 KIF24 EXON Missense_G1124S exm746731 9 34256371 [C/G] NM_194313 KIF24 EXON Missense_H1078Q exm746733 9 34256375 [T/G] NM_194313 KIF24 EXON Missense_T1077K exm746743 9 34256487 [T/A] NM_194313 KIF24 EXON Missense_T1040S exm746748 9 34256579 [T/C] NM_194313 KIF24 EXON Missense_R1009K exm2248065 9 34256618 [C/G] NM_194313 KIF24 EXON Missense_G996A exm2194865 9 34256634 [A/G] NM_194313 KIF24 EXON Missense_H991Y exm746752 9 34256664 [C/G] NM_194313 KIF24 EXON Missense_E981Q exm746758 9 34256832 [T/C] NM_194313 KIF24 EXON Missense_T925A exm746768 9 34256934 [T/A] NM_194313 KIF24 EXON Missense_S891C exm746774 9 34257051 [T/C] NM_194313 KIF24 EXON Missense_E852K exm746777 9 34257095 [A/G] NM_194313 KIF24 EXON Missense_S837F exm746784 9 34257213 [A/C] NM_194313 KIF24 EXON Missense_G798C exm746786 9 34257233 [T/C] NM_194313 KIF24 EXON Missense_R791H exm2194870 9 34257527 [T/C] NM_194313 KIF24 EXON Missense_G693D exm746804 9 34257648 [A/G] NM_194313 KIF24 EXON Missense_R653C exm746816 9 34257908 [A/G] NM_194313 KIF24 EXON Missense_S566F exm2194876 9 34257923 [T/C] NM_194313 KIF24 EXON Missense_R561Q exm746821 9 34257979 [T/C] NM_194313 KIF24 EXON Synonymous_R542R exm746824 9 34259667 [A/G] NM_194313 KIF24 EXON Missense_C518R exm746830 9 34263155 [A/G] NM_194313 KIF24 EXON Nonsense_R487X exm2248068 9 34290230 [T/C] NM_194313 KIF24 EXON Missense_I357V exm746845 9 34306251 [T/C] NM_194313 KIF24 EXON Missense_Q271R exm746855 9 34306410 [A/C] NM_194313 KIF24 EXON Missense_W218L exm746856 9 34306416 [T/C] NM_194313 KIF24 EXON Missense_N216S exm746862 9 34310927 [T/C] NM_194313 KIF24 EXON Missense_M140V exm746867 9 34311020 [T/C] NM_194313 KIF24 EXON Missense_R109G exm746870 9 34311089 [T/C] NM_194313 KIF24 EXON Missense_K86E exm2248070 9 34311144 [T/A] NM_194313 KIF24 EXON Missense_E67D exm746877 9 34311194 [A/G] NM_194313 KIF24 EXON Missense_R51C exm746878 9 34311195 [G/C] NM_194313 KIF24 EXON Missense_D50E exm746884 9 34339126 [A/G] NM_001244390,NM_147173,NM_001161,NM_147172 NUDT2,NUDT2,NUDT2,NUDT2 EXON Missense_Q30R,Missense_Q30R,Missense_Q30R,Missense_Q30R exm746886 9 34343193 [A/G] NM_001244390,NM_147173,NM_001161,NM_147172 NUDT2,NUDT2,NUDT2,NUDT2 EXON Missense_A67T,Missense_A67T,Missense_A67T,Missense_A67T exm746892 9 34343361 [T/C] NM_001244390,NM_147173,NM_001161,NM_147172 NUDT2,NUDT2,NUDT2,NUDT2 EXON Missense_C123R,Missense_C123R,Missense_C123R,Missense_C123R exm746893 9 34343366 [G/C] NM_001244390,NM_147173,NM_001161,NM_147172 NUDT2,NUDT2,NUDT2,NUDT2 EXON Missense_Q124H,Missense_Q124H,Missense_Q124H,Missense_Q124H exm746910 9 34371171 [T/C] NM_020702 KIAA1161 EXON Missense_I591V exm746916 9 34371308 [T/C] NM_020702 KIAA1161 EXON Missense_G545D exm2259330 9 34371454 [C/G] NM_020702 KIAA1161 EXON Synonymous_P496P exm746926 9 34371573 [T/C] NM_020702 KIAA1161 EXON Missense_V457M exm746936 9 34371878 [A/C] NM_020702 KIAA1161 EXON Missense_M355R exm746940 9 34372014 [A/G] NM_020702 KIAA1161 EXON Missense_P310S exm746954 9 34372407 [T/C] NM_020702 KIAA1161 EXON Missense_G179S exm746958 9 34372538 [A/G] NM_020702 KIAA1161 EXON Missense_S135L exm746965 9 34372725 [T/C] NM_020702 KIAA1161 EXON Missense_V73M exm746969 9 34372783 [G/C] NM_020702 KIAA1161 EXON Missense_D53E exm746972 9 34372813 [G/C] NM_020702 KIAA1161 EXON Missense_F43L exm746976 9 34372873 [G/C] NM_020702 KIAA1161 EXON Missense_X23Y exm746980 9 34372931 [T/A] NM_020702 KIAA1161 EXON Missense_N4I exm746981 9 34372937 [A/G] NM_020702 KIAA1161 EXON Missense_L2P exm746983 9 34379084 [T/C] NM_147168,NM_147169,NM_001252195,NM_032596 C9orf24,C9orf24,C9orf24,C9orf24 EXON Silent,Missense_R109H,Missense_R162H,Silent exm2248073 9 34379129 [T/C] NM_147168,NM_147169,NM_001252195,NM_032596 C9orf24,C9orf24,C9orf24,C9orf24 EXON Silent,Missense_Y94C,Missense_Y147C,Silent exm746997 9 34380965 [A/G] NM_147168,NM_147169,NM_001252195,NM_032596 C9orf24,C9orf24,C9orf24,C9orf24 EXON Missense_Y78H,Silent,Missense_Y78H,Missense_Y213H exm747009 9 34381366 [A/C] NM_147168,NM_147169,NM_001252195,NM_032596 C9orf24,C9orf24,C9orf24,C9orf24 Silent,Silent,Silent,Silent exm747016 9 34382820 [A/G] NM_032596 C9orf24 EXON Missense_W110R exm2259331 9 34397545 [A/G] NM_032596 C9orf24 EXON Synonymous_Y29Y exm747031 9 34397579 [G/C] NM_032596 C9orf24 EXON Missense_S18C exm747032 9 34397616 [A/G] NM_032596 C9orf24 EXON Missense_R6C exm747048 9 34405950 [T/C] NM_001184942,NM_001184943,NM_147202,NM_001184945,NM_001184940,NM_001184941 FAM219A,FAM219A,FAM219A,FAM219A,FAM219A,FAM219A EXON Missense_A14T,Missense_A25T,Missense_A25T,Missense_A14T,Missense_A25T,Missense_A25T exm747054 9 34459043 [T/C] NM_012144 DNAI1 EXON Missense_H14Y exm747055 9 34459050 [A/G] NM_012144 DNAI1 EXON Missense_Q16R exm747061 9 34485237 [T/C] NM_012144 DNAI1 EXON Missense_A60V exm747062 9 34485238 [A/G] NM_012144 DNAI1 EXON Synonymous_A60A exm747070 9 34489429 [T/C] NM_012144 DNAI1 EXON Missense_R124C exm747074 9 34490009 [C/G] NM_012144 DNAI1 Silent exm747082 9 34490385 [A/G] NM_012144 DNAI1 EXON Missense_E174K exm747087 9 34491509 [T/C] NM_012144 DNAI1 EXON Missense_T213M exm747100 9 34500796 [A/C] NM_012144 DNAI1 EXON Missense_Q326H exm747103 9 34500821 [A/G] NM_012144 DNAI1 EXON Missense_V335I exm2194950 9 34506670 [T/C] NM_012144 DNAI1 EXON Missense_L370P exm747109 9 34506706 [A/G] NM_012144 DNAI1 EXON Missense_S382N exm747113 9 34506734 [C/G] NM_012144 DNAI1 EXON Missense_I391M exm747114 9 34506738 [A/G] NM_012144 DNAI1 EXON Missense_V393M exm747115 9 34506756 [A/G] NM_012144 DNAI1 EXON Missense_V399M exm2194957 9 34512350 [A/G] NM_012144 DNAI1 EXON Missense_I473V exm747130 9 34512393 [T/G] NM_012144 DNAI1 EXON Missense_V487G exm747132 9 34513143 [T/C] NM_012144 DNAI1 EXON Missense_I508T exm747138 9 34514426 [A/C] NM_012144 DNAI1 EXON Missense_T535N exm747140 9 34514466 [A/G] NM_012144 DNAI1 EXON Nonsense_W548X exm747146 9 34514732 [A/G] NM_012144 DNAI1 EXON Missense_G605R exm2259332 9 34517387 [T/C] NM_012144 DNAI1 EXON Synonymous_H641H exm747152 9 34517387 [T/C] NM_012144 DNAI1 EXON Synonymous_H641H exm747154 9 34517412 [T/C] NM_012144 DNAI1 EXON Missense_R650C exm747193 9 34557610 [A/G] NM_001207011,NM_001842,NM_147164 CNTFR,CNTFR,CNTFR EXON Missense_S173F,Missense_S173F,Missense_S173F exm747203 9 34564628 [T/G] NM_001207011,NM_001842,NM_147164 CNTFR,CNTFR,CNTFR EXON Missense_H96Q,Missense_H96Q,Missense_H96Q exm747205 9 34564654 [T/C] NM_001207011,NM_001842,NM_147164 CNTFR,CNTFR,CNTFR EXON Missense_A88T,Missense_A88T,Missense_A88T exm747208 9 34564707 [T/C] NM_001207011,NM_001842,NM_147164 CNTFR,CNTFR,CNTFR EXON Missense_N70S,Missense_N70S,Missense_N70S exm747230 9 34610999 [G/C] NM_148179,NM_148178 RPP25L,RPP25L EXON Missense_A99P,Missense_A99P exm747243 9 34613790 [T/C] NM_007234,NM_024348 DCTN3,DCTN3 EXON Missense_A184T,Silent exm747250 9 34614173 [T/C] NM_007234,NM_024348 DCTN3,DCTN3 EXON Silent,Missense_R145H exm747261 9 34616065 [T/C] NM_007234,NM_024348 DCTN3,DCTN3 EXON Missense_N105S,Missense_N105S exm747290 9 34622389 [A/C] NM_001017363 ARID3C EXON Missense_C335G exm747292 9 34622463 [T/C] NM_001017363 ARID3C EXON Missense_R310Q exm747295 9 34622525 [T/C] NM_001017363 ARID3C EXON Synonymous_E289E exm747299 9 34623481 [A/G] NM_001017363 ARID3C EXON Missense_S269F exm747306 9 34623633 [G/C] NM_001017363 ARID3C EXON Missense_D218E exm747318 9 34625783 [T/C] NM_001017363 ARID3C EXON Missense_R116K exm2195031 9 34627983 [A/G] NM_001017363 ARID3C EXON Missense_A10V exm747347 9 34635679 [A/G] NM_147157,NM_005866 SIGMAR1,SIGMAR1 EXON Missense_R177W,Missense_R208W exm747366 9 34637416 [T/C] NM_147157,NM_005866 SIGMAR1,SIGMAR1 EXON Synonymous_G51G,Synonymous_G51G exm747390 9 34647200 [T/C] NM_001258332,NM_000155 GALT,GALT EXON Silent,Missense_P66L exm747391 9 34647214 [T/C] NM_001258332,NM_000155 GALT,GALT EXON Synonymous_L3L,Missense_L71F exm747402 9 34647855 [T/C] NM_001258332,NM_000155 GALT,GALT EXON Missense_S26L,Missense_S135L exm747416 9 34648167 [A/G] NM_001258332,NM_000155 GALT,GALT EXON Missense_Q79R,Missense_Q188R exm747440 9 34649029 [T/G] NM_001258332,NM_000155 GALT,GALT EXON Missense_K176N,Missense_K285N exm747445 9 34649421 [A/T] NM_001258332,NM_000155 GALT,GALT EXON Missense_S198T,Missense_S307T exm747476 9 34655629 [T/C] NM_001142784,NR_052010 IL11RA,IL11RA EXON Missense_S43F,Silent exm747483 9 34656741 [T/C] NM_001142784,NR_052010 IL11RA,IL11RA EXON Missense_P56L,Silent exm747484 9 34656767 [A/C] NM_001142784,NR_052010 IL11RA,IL11RA EXON Missense_P65T,Silent exm747490 9 34657043 [T/C] NM_001142784,NR_052010 IL11RA,IL11RA EXON Missense_R115C,Silent exm747501 9 34657473 [T/C] NM_001142784,NR_052010 IL11RA,IL11RA EXON Missense_R179C,Silent exm2195071 9 34658562 [A/G] NM_001142784,NR_052010 IL11RA,IL11RA EXON Missense_G231D,Silent exm747510 9 34658652 [A/G] NM_001142784,NR_052010 IL11RA,IL11RA EXON Missense_R261H,Silent exm747517 9 34660381 [T/C] NM_001142784,NR_052010 IL11RA,IL11RA EXON Missense_R355W,Silent exm2274354 9 34660537 [T/C] NM_001142784,NR_052010 IL11RA,IL11RA EXON Missense_A370V,Silent exm747519 9 34660864 [T/C] NM_001142784,NR_052010 IL11RA,IL11RA EXON Missense_R395W,Silent exm747520 9 34660927 [T/C] NM_001142784,NR_052010 IL11RA,IL11RA EXON Missense_R416C,Silent exm747528 9 34661959 [G/C] NM_006664 CCL27 EXON Missense_M107I exm747535 9 34662075 [A/G] NM_006664 CCL27 EXON Missense_L69F exm747545 9 34662623 [T/C] NM_006664 CCL27 EXON Missense_G3E exm747552 9 34689830 [A/G] NM_006274 CCL19 EXON Missense_R95C exm747553 9 34689961 [T/C] NM_006274 CCL19 EXON Missense_R81H exm747577 9 34709838 [A/C] NM_002989 CCL21 EXON Missense_A42S exm747589 9 34723278 [T/C] NM_001141917 FAM205A EXON Missense_R1320H exm747591 9 34723339 [A/G] NM_001141917 FAM205A EXON Missense_R1300W exm747610 9 34724241 [A/C] NM_001141917 FAM205A EXON Missense_S999I exm747621 9 34725037 [A/G] NM_001141917 FAM205A EXON Missense_H734Y exm747655 9 34726781 [T/A] NM_001141917 FAM205A EXON Missense_S152R exm747657 9 34726821 [A/C] NM_001141917 FAM205A EXON Missense_L139R exm747660 9 34728065 [A/G] NM_001141917 FAM205A EXON Missense_R69W exm747665 9 34729338 [A/C] NM_001141917 FAM205A EXON Missense_W29C exm2259333 9 34729392 [A/G] NM_001141917 FAM205A EXON Synonymous_V11V exm-rs951005 9 34743681 [A/G] exm2266810 9 34820094 [A/G] exm747684 9 34971428 [T/C] NM_015297 KIAA1045 EXON Missense_R45C exm2195123 9 34971542 [T/C] NM_015297 KIAA1045 EXON Nonsense_R83X exm747695 9 34972352 [A/G] NM_015297 KIAA1045 EXON Missense_D130N exm747699 9 34972443 [A/G] NM_015297 KIAA1045 EXON Missense_R160H exm747703 9 34972515 [C/G] NM_015297 KIAA1045 EXON Missense_S184T exm747711 9 34976562 [A/G] NM_015297 KIAA1045 EXON Missense_R225H exm747712 9 34976570 [T/C] NM_015297 KIAA1045 EXON Missense_H228Y exm747727 9 34977210 [A/G] NM_015297 KIAA1045 EXON Missense_R327Q exm2276049 9 34978078 [A/C] NM_015297 KIAA1045 EXON Missense_S391R exm747750 9 34996397 [A/G] NM_001135004,NM_012266,NM_001135005 DNAJB5,DNAJB5,DNAJB5 EXON Missense_R230H,Missense_R116H,Missense_R188H exm747752 9 34996406 [A/G] NM_001135004,NM_012266,NM_001135005 DNAJB5,DNAJB5,DNAJB5 EXON Missense_R233Q,Missense_R119Q,Missense_R191Q exm747753 9 34996426 [C/G] NM_001135004,NM_012266,NM_001135005 DNAJB5,DNAJB5,DNAJB5 EXON Missense_P240A,Missense_P126A,Missense_P198A exm2195153 9 34996474 [A/G] NM_001135004,NM_012266,NM_001135005 DNAJB5,DNAJB5,DNAJB5 EXON Missense_G256S,Missense_G142S,Missense_G214S exm747781 9 35042268 [A/G] NM_001040411,NM_001040412,NM_001040410,NM_203299 C9orf131,C9orf131,C9orf131,C9orf131 EXON Silent,Silent,Missense_E6G,Missense_E6G exm747794 9 35042415 [A/G] NM_001040411,NM_001040412,NM_001040410,NM_203299 C9orf131,C9orf131,C9orf131,C9orf131 EXON Silent,Missense_R7K,Silent,Missense_R55K exm747801 9 35042876 [T/C] NM_001040411,NM_001040412,NM_001040410,NM_203299 C9orf131,C9orf131,C9orf131,C9orf131 EXON Missense_R11C,Missense_R36C,Missense_R49C,Missense_R84C exm747804 9 35042892 [A/G] NM_001040411,NM_001040412,NM_001040410,NM_203299 C9orf131,C9orf131,C9orf131,C9orf131 EXON Missense_D16G,Missense_D41G,Missense_D54G,Missense_D89G exm2248088 9 35043279 [G/C] NM_001040411,NM_001040412,NM_001040410,NM_203299 C9orf131,C9orf131,C9orf131,C9orf131 EXON Missense_S145C,Missense_S170C,Missense_S183C,Missense_S218C exm747823 9 35043291 [T/G] NM_001040411,NM_001040412,NM_001040410,NM_203299 C9orf131,C9orf131,C9orf131,C9orf131 EXON Missense_W149L,Missense_W174L,Missense_W187L,Missense_W222L exm747824 9 35043411 [T/A] NM_001040411,NM_001040412,NM_001040410,NM_203299 C9orf131,C9orf131,C9orf131,C9orf131 EXON Missense_D189V,Missense_D214V,Missense_D227V,Missense_D262V exm747836 9 35043603 [C/G] NM_001040411,NM_001040412,NM_001040410,NM_203299 C9orf131,C9orf131,C9orf131,C9orf131 EXON Missense_T253S,Missense_T278S,Missense_T291S,Missense_T326S exm747837 9 35043642 [T/C] NM_001040411,NM_001040412,NM_001040410,NM_203299 C9orf131,C9orf131,C9orf131,C9orf131 EXON Missense_P266L,Missense_P291L,Missense_P304L,Missense_P339L exm2195163 9 35043683 [T/C] NM_001040411,NM_001040412,NM_001040410,NM_203299 C9orf131,C9orf131,C9orf131,C9orf131 EXON Missense_P280S,Missense_P305S,Missense_P318S,Missense_P353S exm2195165 9 35043772 [G/C] NM_001040411,NM_001040412,NM_001040410,NM_203299 C9orf131,C9orf131,C9orf131,C9orf131 EXON Missense_E309D,Missense_E334D,Missense_E347D,Missense_E382D exm747840 9 35043890 [A/G] NM_001040411,NM_001040412,NM_001040410,NM_203299 C9orf131,C9orf131,C9orf131,C9orf131 EXON Missense_N349D,Missense_N374D,Missense_N387D,Missense_N422D exm747841 9 35043935 [G/C] NM_001040411,NM_001040412,NM_001040410,NM_203299 C9orf131,C9orf131,C9orf131,C9orf131 EXON Missense_L364V,Missense_L389V,Missense_L402V,Missense_L437V exm2195168 9 35043969 [A/C] NM_001040411,NM_001040412,NM_001040410,NM_203299 C9orf131,C9orf131,C9orf131,C9orf131 EXON Missense_A375E,Missense_A400E,Missense_A413E,Missense_A448E exm747854 9 35044208 [T/C] NM_001040411,NM_001040412,NM_001040410,NM_203299 C9orf131,C9orf131,C9orf131,C9orf131 EXON Missense_H455Y,Missense_H480Y,Missense_H493Y,Missense_H528Y exm747859 9 35044246 [A/C] NM_001040411,NM_001040412,NM_001040410,NM_203299 C9orf131,C9orf131,C9orf131,C9orf131 EXON Missense_E467D,Missense_E492D,Missense_E505D,Missense_E540D exm747863 9 35044332 [G/C] NM_001040411,NM_001040412,NM_001040410,NM_203299 C9orf131,C9orf131,C9orf131,C9orf131 EXON Missense_A496G,Missense_A521G,Missense_A534G,Missense_A569G exm747872 9 35044493 [A/T] NM_001040411,NM_001040412,NM_001040410,NM_203299 C9orf131,C9orf131,C9orf131,C9orf131 EXON Missense_S550T,Missense_S575T,Missense_S588T,Missense_S623T exm747879 9 35044668 [A/G] NM_001040411,NM_001040412,NM_001040410,NM_203299 C9orf131,C9orf131,C9orf131,C9orf131 EXON Nonsense_W608X,Nonsense_W633X,Nonsense_W646X,Nonsense_W681X exm747883 9 35044742 [T/C] NM_001040411,NM_001040412,NM_001040410,NM_203299 C9orf131,C9orf131,C9orf131,C9orf131 EXON Missense_W633R,Missense_W658R,Missense_W671R,Missense_W706R exm2195182 9 35044901 [A/G] NM_001040411,NM_001040412,NM_001040410,NM_203299 C9orf131,C9orf131,C9orf131,C9orf131 EXON Missense_A686T,Missense_A711T,Missense_A724T,Missense_A759T exm2248090 9 35045064 [G/C] NM_001040411,NM_001040412,NM_001040410,NM_203299 C9orf131,C9orf131,C9orf131,C9orf131 EXON Missense_P740R,Missense_P765R,Missense_P778R,Missense_P813R exm747918 9 35045372 [T/C] NM_001040411,NM_001040412,NM_001040410,NM_203299 C9orf131,C9orf131,C9orf131,C9orf131 EXON Missense_P843S,Missense_P868S,Missense_P881S,Missense_P916S exm747924 9 35045460 [C/G] NM_001040411,NM_001040412,NM_001040410,NM_203299 C9orf131,C9orf131,C9orf131,C9orf131 EXON Missense_R872T,Missense_R897T,Missense_R910T,Missense_R945T exm747925 9 35045465 [T/C] NM_001040411,NM_001040412,NM_001040410,NM_203299 C9orf131,C9orf131,C9orf131,C9orf131 EXON Missense_H874Y,Missense_H899Y,Missense_H912Y,Missense_H947Y exm747926 9 35045467 [A/C] NM_001040411,NM_001040412,NM_001040410,NM_203299 C9orf131,C9orf131,C9orf131,C9orf131 EXON Missense_H874Q,Missense_H899Q,Missense_H912Q,Missense_H947Q exm747931 9 35045664 [T/C] NM_001040411,NM_001040412,NM_001040410,NM_203299 C9orf131,C9orf131,C9orf131,C9orf131 EXON Missense_S940L,Missense_S965L,Missense_S978L,Missense_S1013L exm747941 9 35045858 [A/C] NM_001040411,NM_001040412,NM_001040410,NM_203299 C9orf131,C9orf131,C9orf131,C9orf131 EXON Missense_S1005R,Missense_S1030R,Missense_S1043R,Missense_S1078R exm2273455 9 35056961 [A/C] NM_007126 VCP EXON Silent exm2259335 9 35057495 [A/G] NM_007126 VCP EXON Synonymous_I731I exm748000 9 35068298 [T/C] NM_007126 VCP EXON Missense_I27V exm748012 9 35074490 [A/G] NM_004629 FANCG EXON Synonymous_G546G exm748024 9 35075022 [T/C] NM_004629 FANCG EXON Missense_R513Q exm748032 9 35075275 [C/G] NM_004629 FANCG Silent exm748034 9 35075303 [A/G] NM_004629 FANCG EXON Missense_R485W exm748044 9 35075969 [A/G] NM_004629 FANCG EXON Missense_S378L exm748048 9 35076517 [A/G] NM_004629 FANCG EXON Missense_P330S exm748053 9 35076755 [A/G] NM_004629 FANCG EXON Missense_T297I exm748057 9 35077006 [T/G] NM_004629 FANCG EXON Missense_Q247K exm748062 9 35077267 [A/G] NM_004629 FANCG EXON Missense_R214C exm748068 9 35078170 [T/C] NM_004629 FANCG EXON Missense_A160T exm748069 9 35078184 [T/C] NM_004629 FANCG EXON Missense_R155H exm748083 9 35079502 [A/G] NM_004629 FANCG EXON Missense_S7F exm748092 9 35089196 [A/G] NM_032634,NM_001201484,NM_152850 PIGO,PIGO,PIGO EXON Missense_F1055L,Missense_F638L,Missense_F638L exm748104 9 35090070 [C/G] NM_032634,NM_001201484,NM_152850 PIGO,PIGO,PIGO EXON Missense_G1021A,Missense_G604A,Missense_G604A exm748125 9 35090633 [A/C] NM_032634,NM_001201484,NM_152850 PIGO,PIGO,PIGO EXON Missense_W895L,Missense_W478L,Missense_W478L exm748137 9 35091452 [T/C] NM_032634,NM_001201484,NM_152850 PIGO,PIGO,PIGO EXON Missense_R811Q,Silent,Silent exm748141 9 35091597 [A/C] NM_032634,NM_001201484,NM_152850 PIGO,PIGO,PIGO EXON Missense_V763L,Silent,Silent exm748162 9 35092020 [T/G] NM_032634,NM_001201484,NM_152850 PIGO,PIGO,PIGO EXON Missense_L622M,Silent,Silent exm748163 9 35092040 [T/C] NM_032634,NM_001201484,NM_152850 PIGO,PIGO,PIGO EXON Missense_R615Q,Silent,Silent exm748190 9 35092586 [T/C] NM_032634,NM_001201484,NM_152850 PIGO,PIGO,PIGO EXON Missense_R433Q,Missense_R433Q,Missense_R433Q exm748191 9 35092607 [T/G] NM_032634,NM_001201484,NM_152850 PIGO,PIGO,PIGO EXON Missense_A426D,Missense_A426D,Missense_A426D exm2195275 9 35093077 [A/G] NM_032634,NM_001201484,NM_152850 PIGO,PIGO,PIGO EXON Missense_H357Y,Missense_H357Y,Missense_H357Y exm748223 9 35094242 [T/C] NM_032634,NM_001201484,NM_152850 PIGO,PIGO,PIGO EXON Missense_N209S,Missense_N209S,Missense_N209S exm748229 9 35095102 [T/G] NM_032634,NM_001201484,NM_152850 PIGO,PIGO,PIGO EXON Missense_A154D,Missense_A154D,Missense_A154D exm748230 9 35095103 [G/C] NM_032634,NM_001201484,NM_152850 PIGO,PIGO,PIGO EXON Missense_A154P,Missense_A154P,Missense_A154P exm748239 9 35095238 [T/A] NM_032634,NM_001201484,NM_152850 PIGO,PIGO,PIGO EXON Missense_R109W,Missense_R109W,Missense_R109W exm748242 9 35095306 [T/C] NM_032634,NM_001201484,NM_152850 PIGO,PIGO,PIGO EXON Missense_Q86R,Missense_Q86R,Missense_Q86R exm748265 9 35100681 [T/C] NM_013442 STOML2 EXON Missense_V283I exm748272 9 35101255 [A/G] NM_013442 STOML2 EXON Missense_R201W exm748287 9 35101909 [A/G] NM_013442 STOML2 EXON Missense_P112S exm748298 9 35102765 [T/C] NM_013442 STOML2 EXON Missense_R34Q exm748305 9 35105325 [A/G] NM_025182 FAM214B EXON Missense_R504C exm748308 9 35105706 [T/C] NM_025182 FAM214B EXON Missense_R479H exm748310 9 35105731 [T/C] NM_025182 FAM214B EXON Missense_E471K exm748311 9 35105746 [T/C] NM_025182 FAM214B EXON Missense_V466M exm748317 9 35106000 [T/C] NM_025182 FAM214B EXON Missense_V409M exm748335 9 35106867 [T/C] NM_025182 FAM214B EXON Missense_M306V exm748340 9 35107455 [T/C] NM_025182 FAM214B EXON Missense_T273A exm748342 9 35107476 [A/G] NM_025182 FAM214B EXON Missense_R266W exm748352 9 35107673 [T/C] NM_025182 FAM214B EXON Missense_S200N exm748366 9 35108064 [T/C] NM_025182 FAM214B EXON Missense_A70T exm748369 9 35108105 [A/G] NM_025182 FAM214B EXON Missense_P56L exm2262642 9 35123369 [A/G] exm-rs10972341 9 35141705 [A/G] exm748383 9 35231123 [A/T] NM_006377 UNC13B EXON Missense_F20Y exm748384 9 35231179 [T/C] NM_006377 UNC13B EXON Missense_R39C exm748388 9 35236570 [A/G] NM_006377 UNC13B EXON Missense_R86H exm2259336 9 35289544 [A/G] NM_006377 UNC13B Silent exm748400 9 35295703 [A/C] NM_006377 UNC13B EXON Missense_D179E exm748408 9 35295780 [T/C] NM_006377 UNC13B EXON Missense_T205I exm748410 9 35295827 [G/C] NM_006377 UNC13B EXON Missense_R221G exm748413 9 35295880 [A/C] NM_006377 UNC13B EXON Missense_D238E exm748414 9 35310490 [T/C] NM_006377 UNC13B EXON Missense_S263F exm748415 9 35310492 [T/C] NM_006377 UNC13B EXON Missense_S264P exm2259337 9 35377595 [T/C] NM_006377 UNC13B EXON Synonymous_F573F exm748470 9 35380531 [T/G] NM_006377 UNC13B EXON Missense_S675A exm748472 9 35380598 [A/G] NM_006377 UNC13B EXON Missense_R697Q exm748481 9 35381577 [T/A] NM_006377 UNC13B EXON Missense_I757F exm2195374 9 35381614 [A/G] NM_006377 UNC13B EXON Missense_R769Q exm748506 9 35386276 [T/C] NM_006377 UNC13B EXON Missense_R945C exm2248104 9 35389944 [C/G] NM_006377 UNC13B EXON Missense_K983N exm748515 9 35390676 [A/G] NM_006377 UNC13B EXON Missense_H1009R exm748520 9 35396556 [T/C] NM_006377 UNC13B EXON Missense_R1049W exm748523 9 35396599 [T/C] NM_006377 UNC13B EXON Missense_A1063V exm748529 9 35397166 [C/G] NM_006377 UNC13B EXON Missense_F1096L exm748548 9 35398605 [A/G] NM_006377 UNC13B EXON Missense_V1214I exm748552 9 35398900 [T/G] NM_006377 UNC13B EXON Missense_E1232D exm748553 9 35398919 [A/G] NM_006377 UNC13B EXON Missense_D1239N exm748557 9 35399004 [A/G] NM_006377 UNC13B EXON Missense_R1267Q exm748566 9 35399650 [A/G] NM_006377 UNC13B EXON Missense_H1338R exm748579 9 35403218 [T/C] NM_006377 UNC13B EXON Missense_T1431I exm748582 9 35403554 [A/G] NM_006377 UNC13B EXON Missense_K1483R exm748587 9 35403767 [T/C] NM_006377 UNC13B EXON Missense_P1505S exm748598 9 35403987 [T/C] NM_006377 UNC13B EXON Missense_V1578A exm748599 9 35404007 [T/C] NM_006377 UNC13B EXON Missense_R1585C exm748600 9 35404008 [A/G] NM_006377 UNC13B EXON Missense_R1585H exm748612 9 35546735 [A/G] NR_052015,NM_014806,NM_001135999 RUSC2,RUSC2,RUSC2 EXON Silent,Missense_T73A,Missense_T73A exm748625 9 35547052 [A/G] NR_052015,NM_014806,NM_001135999 RUSC2,RUSC2,RUSC2 EXON Silent,Missense_M178I,Missense_M178I exm748626 9 35547077 [A/C] NR_052015,NM_014806,NM_001135999 RUSC2,RUSC2,RUSC2 EXON Silent,Missense_T187P,Missense_T187P exm2259338 9 35547790 [T/C] NR_052015,NM_014806,NM_001135999 RUSC2,RUSC2,RUSC2 EXON Silent,Synonymous_H424H,Synonymous_H424H exm2259339 9 35548153 [T/C] NR_052015,NM_014806,NM_001135999 RUSC2,RUSC2,RUSC2 EXON Silent,Synonymous_A545A,Synonymous_A545A exm2259340 9 35548285 [A/G] NR_052015,NM_014806,NM_001135999 RUSC2,RUSC2,RUSC2 EXON Silent,Synonymous_E589E,Synonymous_E589E exm748673 9 35548394 [T/C] NR_052015,NM_014806,NM_001135999 RUSC2,RUSC2,RUSC2 EXON Silent,Missense_H626Y,Missense_H626Y exm2248106 9 35548479 [T/C] NR_052015,NM_014806,NM_001135999 RUSC2,RUSC2,RUSC2 EXON Silent,Missense_P654L,Missense_P654L exm2277386 9 35548485 [C/G] NR_052015,NM_014806,NM_001135999 RUSC2,RUSC2,RUSC2 EXON Silent,Missense_S656T,Missense_S656T exm748680 9 35548531 [T/C] NR_052015,NM_014806,NM_001135999 RUSC2,RUSC2,RUSC2 EXON Silent,Synonymous_D671D,Synonymous_D671D exm748694 9 35555392 [T/C] NR_052015,NM_014806,NM_001135999 RUSC2,RUSC2,RUSC2 EXON Silent,Missense_R784W,Missense_R784W exm748695 9 35555393 [A/G] NR_052015,NM_014806,NM_001135999 RUSC2,RUSC2,RUSC2 EXON Silent,Missense_R784Q,Missense_R784Q exm748706 9 35555545 [A/G] NR_052015,NM_014806,NM_001135999 RUSC2,RUSC2,RUSC2 EXON Silent,Missense_K835E,Missense_K835E exm748713 9 35555657 [A/G] NR_052015,NM_014806,NM_001135999 RUSC2,RUSC2,RUSC2 EXON Silent,Missense_R872Q,Missense_R872Q exm748718 9 35556039 [A/G] NR_052015,NM_014806,NM_001135999 RUSC2,RUSC2,RUSC2 EXON Silent,Missense_R916Q,Missense_R916Q exm2274355 9 35556126 [A/G] NR_052015,NM_014806,NM_001135999 RUSC2,RUSC2,RUSC2 EXON Silent,Missense_R945Q,Missense_R945Q exm2195451 9 35556365 [T/C] NR_052015,NM_014806,NM_001135999 RUSC2,RUSC2,RUSC2 EXON Silent,Missense_T968M,Missense_T968M exm748736 9 35558278 [A/G] NR_052015,NM_014806,NM_001135999 RUSC2,RUSC2,RUSC2 EXON Silent,Missense_E1049K,Missense_E1049K exm748744 9 35559258 [A/C] NR_052015,NM_014806,NM_001135999 RUSC2,RUSC2,RUSC2 EXON Silent,Missense_Y1126S,Missense_Y1126S exm748761 9 35560511 [C/G] NR_052015,NM_014806,NM_001135999 RUSC2,RUSC2,RUSC2 EXON Silent,Missense_P1292A,Missense_P1292A exm748766 9 35560559 [A/G] NR_052015,NM_014806,NM_001135999 RUSC2,RUSC2,RUSC2 EXON Silent,Missense_G1308S,Missense_G1308S exm748780 9 35561091 [T/C] NR_052015,NM_014806,NM_001135999 RUSC2,RUSC2,RUSC2 EXON Silent,Missense_P1449L,Missense_P1449L exm748781 9 35561212 [A/G] NR_052015,NM_014806,NM_001135999 RUSC2,RUSC2,RUSC2 EXON Silent,Missense_G1462S,Missense_G1462S exm748814 9 35563062 [A/G] NM_001099951,NM_001164310 FAM166B,FAM166B EXON Missense_A101V,Missense_A101V exm748816 9 35563190 [T/C] NM_001099951,NM_001164310 FAM166B,FAM166B EXON Missense_S87G,Missense_S87G exm748825 9 35563360 [T/C] NM_001099951,NM_001164310 FAM166B,FAM166B EXON Missense_R30Q,Missense_R30Q exm748826 9 35563361 [A/G] NM_001099951,NM_001164310 FAM166B,FAM166B EXON Missense_R30W,Missense_R30W exm748860 9 35608501 [A/G] NM_006285 TESK1 EXON Missense_N332S exm748868 9 35608975 [A/G] NM_006285 TESK1 EXON Missense_D373N exm748873 9 35609086 [T/C] NM_006285 TESK1 EXON Missense_P410S exm748874 9 35609123 [T/C] NM_006285 TESK1 EXON Missense_P422L exm2195507 9 35609332 [A/G] NM_006285 TESK1 EXON Missense_T492A exm748899 9 35609545 [A/G] NM_006285 TESK1 EXON Missense_D563N exm748905 9 35609642 [A/G] NM_006285 TESK1 EXON Missense_R595H exm748910 9 35610691 [A/G] NM_001782 CD72 EXON Missense_L337P exm748912 9 35611802 [T/C] NM_001782 CD72 EXON Missense_R317G exm748914 9 35611811 [T/G] NM_001782 CD72 EXON Missense_Q314K exm748919 9 35612978 [A/G] NM_001782 CD72 EXON Missense_P234L exm748942 9 35618053 [A/C] NM_001782 CD72 EXON Missense_V50L exm748945 9 35618065 [T/C] NM_001782 CD72 EXON Missense_A46T exm748948 9 35618092 [T/C] NM_001782 CD72 EXON Missense_I37V exm748959 9 35649916 [A/C] NM_014450 SIT1 EXON Missense_A174S exm748976 9 35650497 [A/C] NM_014450 SIT1 Silent exm748977 9 35650500 [A/G] NM_014450 SIT1 EXON Missense_R79C exm748988 9 35650832 [A/G] NM_014450 SIT1 EXON Missense_R7W exm2248109 9 35660414 [T/C] NM_001195200,NM_001195201,NM_001195217,NM_174923,NM_032818 CCDC107,CCDC107,CCDC107,CCDC107,ARHGEF39 EXON Missense_A92V,Missense_A92V,Missense_A92V,Missense_A92V,Silent exm749003 9 35660425 [A/G] NM_001195200,NM_001195201,NM_001195217,NM_174923,NM_032818 CCDC107,CCDC107,CCDC107,CCDC107,ARHGEF39 EXON Missense_E96K,Missense_E96K,Missense_E96K,Missense_E96K,Silent exm749007 9 35660642 [T/G] NM_001195200,NM_001195201,NM_001195217,NM_174923,NM_032818 CCDC107,CCDC107,CCDC107,CCDC107,ARHGEF39 EXON Missense_E136D,Missense_E136D,Missense_E136D,Missense_E136D,Silent exm749008 9 35660643 [T/C] NM_001195200,NM_001195201,NM_001195217,NM_174923,NM_032818 CCDC107,CCDC107,CCDC107,CCDC107,ARHGEF39 EXON Missense_R137C,Missense_R137C,Missense_R137W,Missense_R137C,Silent exm749014 9 35660844 [T/C] NM_001195200,NM_001195201,NM_001195217,NM_174923,NM_032818 CCDC107,CCDC107,CCDC107,CCDC107,ARHGEF39 EXON Missense_A171V,Silent,Silent,Missense_A171V,Silent exm749017 9 35660873 [A/G] NM_001195200,NM_001195201,NM_001195217,NM_174923,NM_032818 CCDC107,CCDC107,CCDC107,CCDC107,ARHGEF39 EXON Silent,Silent,Silent,Missense_E181K,Silent exm749020 9 35660901 [T/C] NM_001195200,NM_001195201,NM_001195217,NM_174923,NM_032818 CCDC107,CCDC107,CCDC107,CCDC107,ARHGEF39 EXON Silent,Silent,Silent,Missense_S190F,Silent exm2195550 9 35660955 [A/C] NM_001195200,NM_001195201,NM_001195217,NM_174923,NM_032818 CCDC107,CCDC107,CCDC107,CCDC107,ARHGEF39 EXON Missense_P181H,Silent,Silent,Missense_P208H,Silent exm749025 9 35660990 [A/G] NM_001195200,NM_001195201,NM_001195217,NM_174923,NM_032818 CCDC107,CCDC107,CCDC107,CCDC107,ARHGEF39 EXON Missense_I193V,Silent,Silent,Missense_I220V,Silent exm2273456 9 35661943 [A/C] NM_032818 ARHGEF39 EXON Silent exm749044 9 35662207 [A/G] NM_032818 ARHGEF39 EXON Missense_R321C exm749046 9 35662214 [A/C] NM_032818 ARHGEF39 EXON Missense_E318D exm749047 9 35662251 [T/C] NM_032818 ARHGEF39 EXON Missense_H306R exm749048 9 35662508 [A/C] NM_032818 ARHGEF39 Silent exm749054 9 35662610 [A/G] NM_032818 ARHGEF39 EXON Missense_R268W exm749056 9 35662642 [A/G] NM_032818 ARHGEF39 EXON Missense_M257T exm749062 9 35662724 [A/G] NM_032818 ARHGEF39 EXON Missense_R230C exm749066 9 35663006 [T/C] NM_032818 ARHGEF39 EXON Missense_D204N exm749067 9 35663069 [T/C] NM_032818 ARHGEF39 EXON Missense_A183T exm749069 9 35663319 [A/G] NM_032818 ARHGEF39 EXON Missense_R182W exm749072 9 35663346 [T/C] NM_032818 ARHGEF39 EXON Missense_N173D exm749080 9 35664388 [A/C] NM_032818 ARHGEF39 EXON Missense_R112M exm749085 9 35664760 [C/G] NM_032818 ARHGEF39 EXON Missense_A76P exm749088 9 35665029 [T/C] NM_032818 ARHGEF39 EXON Synonymous_T46T exm749097 9 35665153 [A/C] NM_032818 ARHGEF39 EXON Missense_C5F exm2248110 9 35674185 [T/C] NM_001216 CA9 EXON Missense_P77S exm2248111 9 35674186 [T/C] NM_001216 CA9 EXON Missense_P77L exm749110 9 35674191 [A/G] NM_001216 CA9 EXON Missense_G79R exm749111 9 35674204 [T/C] NM_001216 CA9 EXON Missense_L83P exm2259341 9 35674208 [T/C] NM_001216 CA9 EXON Synonymous_P84P exm2248112 9 35674305 [A/G] NM_001216 CA9 EXON Missense_E117K exm749116 9 35674347 [A/T] NM_001216 CA9 EXON Missense_R131W exm749125 9 35675865 [A/G] NM_001216 CA9 EXON Missense_E181K exm749138 9 35677793 [T/C] NM_001216 CA9 EXON Missense_P283S exm749146 9 35679251 [A/G] NM_001216 CA9 EXON Missense_Q326R exm749152 9 35679911 [T/C] NM_001216 CA9 EXON Nonsense_R376X exm749214 9 35685293 [A/G] NM_213674,NM_003289 TPM2,TPM2 EXON Missense_S179L,Missense_S179L exm749255 9 35699047 [A/C] NM_006289 TLN1 EXON Missense_K2327N exm749263 9 35699403 [T/C] NM_006289 TLN1 EXON Missense_R2275H exm2195639 9 35700195 [A/G] NM_006289 TLN1 EXON Missense_A2218V exm749283 9 35703786 [T/C] NM_006289 TLN1 EXON Missense_K2115E exm749284 9 35703818 [T/C] NM_006289 TLN1 EXON Missense_K2104R exm749286 9 35703836 [A/G] NM_006289 TLN1 EXON Missense_T2098M exm749299 9 35704339 [T/C] NM_006289 TLN1 EXON Missense_A2013T exm749304 9 35704399 [T/C] NM_006289 TLN1 EXON Missense_D1993N exm749306 9 35704426 [T/C] NM_006289 TLN1 EXON Missense_A1984T exm2248118 9 35707455 [A/G] NM_006289 TLN1 EXON Missense_R1555C exm749362 9 35707745 [G/C] NM_006289 TLN1 EXON Missense_L1539V exm749364 9 35707816 [T/C] NM_006289 TLN1 EXON Missense_R1515H exm749371 9 35708400 [T/C] NM_006289 TLN1 EXON Missense_A1470T exm2259342 9 35710818 [T/C] NM_006289 TLN1 EXON Synonymous_L1393L exm749419 9 35712902 [G/C] NM_006289 TLN1 EXON Missense_S1164T exm749436 9 35714046 [A/T] NM_006289 TLN1 EXON Missense_D1051E exm2259343 9 35714269 [A/G] NM_006289 TLN1 EXON Synonymous_T1029T exm749459 9 35716499 [T/C] NM_006289 TLN1 EXON Missense_N838S exm749497 9 35720085 [T/C] NM_006289 TLN1 EXON Missense_Q472R exm749515 9 35722208 [A/G] NM_006289 TLN1 EXON Missense_C286R exm749543 9 35725610 [G/C] NM_006289 TLN1 EXON Missense_A28P exm749559 9 35733441 [A/G] NM_006368 CREB3 EXON Missense_K132E exm749564 9 35735133 [T/C] NM_006368 CREB3 EXON Missense_R155W exm749565 9 35735134 [A/G] NM_006368 CREB3 EXON Missense_R155Q exm749567 9 35735139 [A/G] NM_006368 CREB3 EXON Missense_K157E exm749568 9 35735145 [T/C] NM_006368 CREB3 EXON Nonsense_R159X exm749569 9 35735173 [A/G] NM_006368 CREB3 EXON Missense_R168H exm749589 9 35736486 [G/C] NM_006368 CREB3 EXON Missense_Q293H exm749594 9 35736638 [T/C] NM_006368 CREB3 EXON Missense_P344L exm749596 9 35736644 [A/G] NM_006368 CREB3 EXON Missense_Q346R exm749603 9 35737341 [T/C] NM_020944 GBA2 EXON Missense_R870Q exm749620 9 35737912 [A/G] NM_020944 GBA2 EXON Missense_R780C exm749624 9 35738119 [T/C] NM_020944 GBA2 EXON Missense_R743Q exm749625 9 35738127 [T/G] NM_020944 GBA2 EXON Missense_S740R exm749626 9 35738146 [T/C] NM_020944 GBA2 EXON Missense_R734H exm749632 9 35738371 [A/G] NM_020944 GBA2 EXON Synonymous_S685S exm749656 9 35739655 [A/G] NM_020944 GBA2 EXON Missense_R518W exm749657 9 35739661 [T/C] NM_020944 GBA2 EXON Missense_T516A exm749661 9 35739712 [T/C] NM_020944 GBA2 EXON Missense_E499K exm749663 9 35739787 [T/C] NM_020944 GBA2 EXON Missense_A474T exm2259344 9 35740009 [T/C] NM_020944 GBA2 EXON Synonymous_P465P exm749667 9 35740046 [T/G] NM_020944 GBA2 EXON Missense_A453E exm749671 9 35740222 [T/C] NM_020944 GBA2 EXON Missense_G423S exm749675 9 35740293 [C/G] NM_020944 GBA2 EXON Missense_R399P exm749681 9 35740615 [A/G] NM_020944 GBA2 EXON Missense_T346M exm749689 9 35740902 [T/C] NM_020944 GBA2 EXON Missense_G316R exm749693 9 35740981 [G/C] NM_020944 GBA2 EXON Missense_F289L exm749695 9 35741033 [A/G] NM_020944 GBA2 EXON Missense_V272A exm749700 9 35741796 [T/C] NM_020944 GBA2 EXON Missense_G220D exm749713 9 35748371 [T/C] NM_020944 GBA2 EXON Missense_M111V exm749714 9 35748376 [T/C] NM_020944 GBA2 EXON Missense_S109N exm749716 9 35748436 [G/C] NM_020944 GBA2 EXON Missense_C89S exm749718 9 35748485 [T/C] NM_020944 GBA2 EXON Missense_E73K exm749757 9 35750887 [G/C] NM_001080496 RGP1 EXON Missense_Q130E exm749768 9 35751376 [T/C] NM_001080496 RGP1 EXON Missense_R201C exm749771 9 35751681 [C/G] NM_001080496 RGP1 EXON Missense_S231C exm749776 9 35752020 [A/G] NM_001080496 RGP1 EXON Missense_G277D exm749777 9 35752048 [A/C] NM_001080496 RGP1 EXON Missense_H286Q exm749779 9 35752124 [A/G] NM_001080496 RGP1 EXON Missense_G312S exm749791 9 35753170 [A/C] NM_001080496,NM_001044264 RGP1,MSMP EXON Silent,Missense_G116V exm749796 9 35753657 [A/G] NM_001044264 MSMP EXON Missense_T80M exm749798 9 35753765 [A/G] NM_001044264 MSMP EXON Missense_A44V exm749802 9 35754052 [T/C] NM_001044264 MSMP EXON Missense_M25I exm2195849 9 35754090 [T/C] NM_001044264 MSMP EXON Missense_G13R exm749804 9 35754122 [A/G] NM_001044264 MSMP EXON Missense_A2V exm749827 9 35792469 [T/G] NM_003995 NPR2 EXON Missense_A22S exm749865 9 35800103 [T/C] NM_003995 NPR2 EXON Missense_R358W exm749880 9 35800754 [T/C] NM_003995 NPR2 EXON Missense_R423W exm749893 9 35801720 [A/G] NM_003995 NPR2 EXON Missense_R506H exm2259345 9 35805543 [A/G] NM_003995 NPR2 EXON Synonymous_S641S exm749921 9 35806217 [T/C] NM_003995 NPR2 EXON Missense_R787W exm749933 9 35807327 [A/G] NM_003995 NPR2 EXON Missense_V882I exm749934 9 35808174 [G/C] NM_003995,NM_172312 NPR2,SPAG8 EXON Silent,Missense_W501S exm749936 9 35808198 [A/G] NM_003995,NM_172312 NPR2,SPAG8 EXON Silent,Missense_T493M exm749939 9 35808263 [T/A] NM_003995,NM_172312 NPR2,SPAG8 EXON Silent,Missense_E471D exm749940 9 35808274 [T/C] NM_003995,NM_172312 NPR2,SPAG8 EXON Silent,Missense_G468R exm749944 9 35808588 [A/G] NM_003995,NM_172312 NPR2,SPAG8 EXON Missense_R932H,Silent exm749945 9 35808633 [A/G] NM_003995,NM_172312 NPR2,SPAG8 EXON Missense_R947H,Silent exm749965 9 35810085 [G/C] NM_172312,NM_001039592 SPAG8,SPAG8 EXON Silent,Missense_N436K exm749968 9 35810093 [A/G] NM_172312,NM_001039592 SPAG8,SPAG8 EXON Silent,Missense_R434W exm749975 9 35810295 [T/G] NM_172312,NM_001039592 SPAG8,SPAG8 EXON Nonsense_Y404X,Nonsense_Y404X exm749984 9 35810673 [T/C] NM_172312,NM_001039592 SPAG8,SPAG8 EXON Missense_R349H,Missense_R349H exm749989 9 35810930 [G/C] NM_172312,NM_001039592 SPAG8,SPAG8 EXON Missense_T330S,Missense_T330S exm749995 9 35810964 [T/C] NM_172312,NM_001039592 SPAG8,SPAG8 EXON Missense_M319V,Missense_M319V exm749996 9 35810978 [T/C] NM_172312,NM_001039592 SPAG8,SPAG8 EXON Missense_R314Q,Missense_R314Q exm749997 9 35810991 [A/G] NM_172312,NM_001039592 SPAG8,SPAG8 EXON Nonsense_R310X,Nonsense_R310X exm2259346 9 35811215 [T/C] NM_172312,NM_001039592 SPAG8,SPAG8 EXON Synonymous_P276P,Synonymous_P276P exm750001 9 35811215 [T/C] NM_172312,NM_001039592 SPAG8,SPAG8 EXON Synonymous_P276P,Synonymous_P276P exm750002 9 35811228 [T/C] NM_172312,NM_001039592 SPAG8,SPAG8 EXON Missense_Y272C,Missense_Y272C exm750003 9 35811229 [A/G] NM_172312,NM_001039592 SPAG8,SPAG8 EXON Missense_Y272H,Missense_Y272H exm750012 9 35811445 [T/C] NM_172312,NM_001039592 SPAG8,SPAG8 EXON Missense_G200S,Missense_G200S exm750021 9 35811508 [A/G] NM_172312,NM_001039592 SPAG8,SPAG8 EXON Missense_S179P,Missense_S179P exm750031 9 35811697 [T/C] NM_172312,NM_001039592 SPAG8,SPAG8 EXON Missense_V116I,Missense_V116I exm750032 9 35811715 [T/C] NM_172312,NM_001039592 SPAG8,SPAG8 EXON Missense_S110G,Missense_S110G exm750035 9 35811748 [T/C] NM_172312,NM_001039592 SPAG8,SPAG8 EXON Missense_G99R,Missense_G99R exm750042 9 35811933 [T/G] NM_172312,NM_001039592 SPAG8,SPAG8 EXON Missense_D37A,Missense_D37A exm750050 9 35813076 [T/C] NM_032593 HINT2 EXON Missense_R156Q exm750058 9 35813451 [T/G] NM_032593 HINT2 EXON Missense_E106D exm750064 9 35813521 [A/G] NM_032593 HINT2 EXON Missense_P83L exm2277387 9 35813521 [C/G] NM_032593 HINT2 EXON Missense_P83R exm750068 9 35813759 [A/G] NM_032593 HINT2 EXON Missense_T35I exm2271184 9 35815356 [T/C] exm750077 9 35819211 [T/C] NR_052026,NM_001012446 FAM221B,FAM221B EXON Silent,Missense_H345R exm750083 9 35819909 [A/C] NR_052026,NM_001012446 FAM221B,FAM221B EXON Silent,Missense_L277F exm750104 9 35825369 [A/G] NR_052026,NM_001012446 FAM221B,FAM221B EXON Silent,Synonymous_G200G exm750110 9 35825651 [T/C] NR_052026,NM_001012446 FAM221B,FAM221B EXON Silent,Missense_E170K exm750113 9 35825706 [C/G] NR_052026,NM_001012446 FAM221B,FAM221B EXON Silent,Missense_S151R exm750120 9 35825822 [A/G] NR_052026,NM_001012446 FAM221B,FAM221B EXON Silent,Nonsense_R113X exm750128 9 35826016 [A/G] NR_052026,NM_001012446 FAM221B,FAM221B EXON Silent,Missense_P48L exm750130 9 35826038 [T/C] NR_052026,NM_001012446 FAM221B,FAM221B EXON Silent,Missense_K41E exm750132 9 35826058 [T/C] NR_052026,NM_001012446 FAM221B,FAM221B EXON Silent,Missense_H34R exm750133 9 35826149 [A/G] NR_052026,NM_001012446 FAM221B,FAM221B EXON Silent,Missense_H4Y exm750142 9 35842473 [T/C] NM_001042589,NM_016446,NM_001042590 TMEM8B,TMEM8B,TMEM8B EXON Missense_P13L,Missense_P13L,Missense_P13L exm750145 9 35842491 [T/C] NM_001042589,NM_016446,NM_001042590 TMEM8B,TMEM8B,TMEM8B EXON Missense_L19P,Missense_L19P,Missense_L19P exm750146 9 35842503 [T/C] NM_001042589,NM_016446,NM_001042590 TMEM8B,TMEM8B,TMEM8B EXON Missense_A23V,Missense_A23V,Missense_A23V exm750152 9 35842619 [A/G] NM_001042589,NM_016446,NM_001042590 TMEM8B,TMEM8B,TMEM8B EXON Missense_A62T,Missense_A62T,Missense_A62T exm750153 9 35842635 [A/G] NM_001042589,NM_016446,NM_001042590 TMEM8B,TMEM8B,TMEM8B EXON Missense_R67H,Missense_R67H,Missense_R67H exm750202 9 35852956 [T/C] NM_001042589,NM_001042590 TMEM8B,TMEM8B EXON Missense_P318S,Missense_P318S exm750209 9 35853514 [A/G] NM_001042589,NM_001042590 TMEM8B,TMEM8B EXON Missense_V366I,Missense_V366I exm750210 9 35853517 [T/C] NM_001042589,NM_001042590 TMEM8B,TMEM8B EXON Missense_R367C,Missense_R367C exm2248130 9 35853548 [A/G] NM_001042589,NM_001042590 TMEM8B,TMEM8B EXON Missense_R377H,Missense_R377H exm2195953 9 35853580 [T/C] NM_001042589,NM_001042590 TMEM8B,TMEM8B EXON Missense_L388F,Missense_L388F exm750214 9 35853598 [A/G] NM_001042589,NM_001042590 TMEM8B,TMEM8B EXON Missense_V394I,Missense_V394I exm750215 9 35853630 [G/C] NM_001042589,NM_001042590 TMEM8B,TMEM8B EXON Missense_D404E,Missense_D404E exm750219 9 35853736 [T/C] NM_001042589,NM_001042590 TMEM8B,TMEM8B EXON Missense_R440W,Missense_R440W exm750239 9 35869555 [T/C] NM_001004487 OR13J1 EXON Missense_T282A exm750251 9 35869797 [A/G] NM_001004487 OR13J1 EXON Missense_A201V exm750254 9 35869896 [A/G] NM_001004487 OR13J1 EXON Missense_F168S exm750255 9 35869905 [A/C] NM_001004487 OR13J1 EXON Missense_R165M exm750257 9 35869983 [T/C] NM_001004487 OR13J1 EXON Missense_R139Q exm750260 9 35870001 [T/C] NM_001004487 OR13J1 EXON Missense_H133R exm750264 9 35870040 [T/C] NM_001004487 OR13J1 EXON Missense_Y120C exm750267 9 35870133 [T/C] NM_001004487 OR13J1 EXON Missense_R89Q exm750277 9 35870271 [A/G] NM_001004487 OR13J1 EXON Missense_T43I exm2266812 9 35905966 [A/G] exm750289 9 35906390 [T/C] NM_001039792 HRCT1 EXON Missense_R36W exm750293 9 35906438 [T/C] NM_001039792 HRCT1 EXON Nonsense_R52X exm750295 9 35906445 [A/G] NM_001039792 HRCT1 EXON Missense_R54H exm750298 9 35906468 [T/C] NM_001039792 HRCT1 EXON Missense_R62W exm750299 9 35906469 [A/G] NM_001039792 HRCT1 EXON Missense_R62Q exm750300 9 35906471 [T/C] NM_001039792 HRCT1 EXON Missense_R63W exm750303 9 35906504 [T/C] NM_001039792 HRCT1 EXON Missense_R74C exm750305 9 35906519 [A/G] NM_001039792 HRCT1 EXON Missense_V79I exm750306 9 35906532 [T/C] NM_001039792 HRCT1 EXON Missense_P83L exm750308 9 35906544 [T/A] NM_001039792 HRCT1 EXON Missense_L87H exm750312 9 35906550 [A/C] NM_001039792 HRCT1 EXON Missense_H89P exm750313 9 35906553 [A/C] NM_001039792 HRCT1 EXON Missense_H90P exm750318 9 35906560 [A/C] NM_001039792 HRCT1 EXON Missense_H92Q exm750347 9 35957288 [T/C] NM_019897 OR2S2 EXON Missense_G270R exm750348 9 35957317 [T/C] NM_019897 OR2S2 EXON Missense_Y260C exm750353 9 35957354 [T/C] NM_019897 OR2S2 EXON Missense_V248M exm750357 9 35957452 [A/G] NM_019897 OR2S2 EXON Missense_I215T exm2195976 9 35957527 [A/C] NM_019897 OR2S2 EXON Missense_C190F exm750371 9 35957704 [A/C] NM_019897 OR2S2 EXON Missense_L131R exm750373 9 35957717 [T/C] NM_019897 OR2S2 EXON Missense_I127V exm750375 9 35957728 [T/C] NM_019897 OR2S2 EXON Missense_R123H exm750379 9 35957764 [A/G] NM_019897 OR2S2 EXON Missense_T111I exm750380 9 35957773 [A/G] NM_019897 OR2S2 EXON Missense_M108T exm750385 9 35957819 [A/T] NM_019897 OR2S2 EXON Missense_I93F exm750387 9 35957831 [A/G] NM_019897 OR2S2 EXON Missense_P89S exm2195981 9 35957877 [T/G] NM_019897 OR2S2 EXON Nonsense_C73X exm750391 9 35957924 [T/G] NM_019897 OR2S2 EXON Missense_T58P exm750398 9 35958008 [T/C] NM_019897 OR2S2 EXON Missense_V30M exm750402 9 35958047 [T/C] NM_019897 OR2S2 EXON Missense_R17G exm750404 9 35958056 [T/C] NM_019897 OR2S2 EXON Missense_V14I exm750407 9 36037065 [T/G] NM_021111 RECK EXON Missense_V24L exm750410 9 36052261 [C/G] NM_021111 RECK Silent exm750422 9 36063860 [T/C] NM_021111 RECK EXON Nonsense_R114X exm750433 9 36083554 [T/C] NM_021111 RECK EXON Missense_T211M exm750439 9 36087876 [A/G] NM_021111 RECK EXON Missense_V275I exm750449 9 36100388 [G/C] NM_021111 RECK EXON Missense_M382I exm2248135 9 36100504 [T/C] NM_021111 RECK EXON Missense_P421L exm2248136 9 36102096 [A/G] NM_021111 RECK EXON Missense_D435G exm750455 9 36102114 [A/G] NM_021111 RECK EXON Missense_K441R exm750461 9 36105196 [T/C] NM_021111 RECK EXON Missense_P498S exm750465 9 36107981 [C/G] NM_021111 RECK EXON Missense_L529V exm750467 9 36108054 [A/G] NM_021111 RECK EXON Missense_G553D exm750471 9 36108140 [A/G] NM_021111 RECK EXON Missense_I582V exm750472 9 36108160 [A/T] NM_021111 RECK EXON Missense_K588N exm750491 9 36117025 [T/G] NM_021111 RECK EXON Missense_F702V exm750497 9 36118757 [T/A] NM_021111 RECK EXON Missense_F753I exm750503 9 36118844 [A/G] NM_021111 RECK EXON Missense_D782N exm750507 9 36118905 [A/G] NM_021111 RECK EXON Missense_C802Y exm750528 9 36122995 [T/C] NM_021111 RECK EXON Missense_P957S exm750535 9 36147794 [T/C] NM_022343 GLIPR2 EXON Missense_F9L exm750539 9 36147845 [A/G] NM_022343 GLIPR2 EXON Missense_V26I exm750542 9 36147860 [A/C] NM_022343 GLIPR2 EXON Missense_L31I exm750549 9 36148548 [T/C] NM_022343 GLIPR2 EXON Missense_S43P exm750553 9 36148648 [A/G] NM_022343 GLIPR2 Silent exm2274356 9 36169539 [A/G] NM_005893 CCIN EXON Missense_V14M exm2259349 9 36169598 [T/C] NM_005893 CCIN EXON Synonymous_S33S exm750583 9 36169684 [T/C] NM_005893 CCIN EXON Missense_M62T exm750586 9 36169723 [A/G] NM_005893 CCIN EXON Missense_S75N exm750596 9 36169848 [T/C] NM_005893 CCIN EXON Nonsense_R117X exm750597 9 36169894 [A/G] NM_005893 CCIN EXON Missense_N132S exm750611 9 36170176 [A/G] NM_005893 CCIN EXON Missense_N226S exm750618 9 36170278 [A/G] NM_005893 CCIN EXON Missense_R260H exm750619 9 36170289 [T/C] NM_005893 CCIN EXON Missense_R264W exm750620 9 36170290 [A/G] NM_005893 CCIN EXON Missense_R264Q exm750621 9 36170299 [A/G] NM_005893 CCIN EXON Missense_S267N exm750622 9 36170317 [A/G] NM_005893 CCIN EXON Missense_R273Q exm750638 9 36170559 [T/G] NM_005893 CCIN EXON Missense_S354A exm750639 9 36170560 [A/C] NM_005893 CCIN EXON Missense_S354Y exm2248138 9 36170586 [A/G] NM_005893 CCIN EXON Missense_I363V exm750645 9 36170694 [T/C] NM_005893 CCIN EXON Missense_R399W exm750652 9 36170820 [T/C] NM_005893 CCIN EXON Missense_R441W exm750660 9 36170940 [A/G] NM_005893 CCIN EXON Missense_V481M exm750661 9 36170952 [T/C] NM_005893 CCIN EXON Missense_R485W exm750666 9 36171026 [A/C] NM_005893 CCIN EXON Missense_N509K exm2259350 9 36171092 [A/G] NM_005893 CCIN EXON Synonymous_G531G exm750699 9 36211623 [A/G] NM_001184760,NM_001184762,NM_007096,NM_001184761,NM_001076677,NM_001833 CLTA,CLTA,CLTA,CLTA,CLTA,CLTA EXON Missense_N182S,Missense_N118S,Missense_N200S,Synonymous_K168K,Missense_N188S,Missense_N170S exm750700 9 36211628 [A/G] NM_001184760,NM_001184762,NM_007096,NM_001184761,NM_001076677,NM_001833 CLTA,CLTA,CLTA,CLTA,CLTA,CLTA EXON Missense_I184V,Missense_I120V,Missense_I202V,Silent,Missense_I190V,Missense_I172V exm2196063 9 36217445 [A/C] NM_005476,NM_001128227,NM_001190383,NM_001190384,NM_001190388 GNE,GNE,GNE,GNE,GNE EXON Missense_V696L,Missense_V727L,Missense_V622L,Missense_V586L,Missense_V691L exm750724 9 36218242 [A/G] NM_005476,NM_001128227,NM_001190383,NM_001190384,NM_001190388 GNE,GNE,GNE,GNE,GNE EXON Missense_A624V,Missense_A655V,Missense_A550V,Missense_A514V,Missense_A619V exm750734 9 36222965 [T/C] NM_005476,NM_001128227,NM_001190383,NM_001190384,NM_001190388 GNE,GNE,GNE,GNE,GNE EXON Missense_R481Q,Missense_R512Q,Silent,Missense_R371Q,Missense_R476Q exm750739 9 36227259 [T/C] NM_005476,NM_001128227,NM_001190383,NM_001190384,NM_001190388 GNE,GNE,GNE,GNE,GNE EXON Missense_I423V,Missense_I454V,Missense_I423V,Missense_I313V,Missense_I418V exm750749 9 36236974 [A/C] NM_005476,NM_001128227,NM_001190383,NM_001190384,NM_001190388 GNE,GNE,GNE,GNE,GNE EXON Missense_D208E,Missense_D239E,Missense_D208E,Silent,Missense_D203E exm2196088 9 36246117 [A/T] NM_005476,NM_001128227,NM_001190383,NM_001190384,NM_001190388 GNE,GNE,GNE,GNE,GNE EXON Missense_D176V,Missense_D207V,Missense_D176V,Missense_D117V,Missense_D171V exm750764 9 36276951 [T/C] NM_001128227,NM_001190388 GNE,GNE EXON Silent,Missense_R30H exm750794 9 36353241 [C/G] NM_194332,NM_194330,NM_194329,NM_194328,NM_022781 RNF38,RNF38,RNF38,RNF38,RNF38 EXON Missense_P250A,Missense_P250A,Missense_P283A,Missense_P250A,Missense_P333A exm750809 9 36357894 [T/C] NM_194332,NM_194330,NM_194329,NM_194328,NM_022781 RNF38,RNF38,RNF38,RNF38,RNF38 EXON Missense_A123T,Missense_A123T,Missense_A156T,Missense_A123T,Missense_A206T exm2248144 9 36400099 [A/G] NM_194332,NM_194330,NM_194329,NM_194328,NM_022781 RNF38,RNF38,RNF38,RNF38,RNF38 EXON Silent,Silent,Missense_C3R,Silent,Missense_C3R exm750837 9 36583642 [A/G] NM_001256689,NM_001256692,NM_001256691,NM_001256687,NR_046337,NM_001256693,NM_014791,NM_001256688,NM_001256690,NM_001256685 MELK,MELK,MELK,MELK,MELK,MELK,MELK,MELK,MELK,MELK EXON Silent,Silent,Silent,Missense_K26R,Silent,Silent,Missense_K26R,Missense_K26R,Silent,Missense_K26R exm750842 9 36589555 [T/C] NM_001256689,NM_001256692,NM_001256691,NM_001256687,NR_046337,NM_001256693,NM_014791,NM_001256688,NM_001256690,NM_001256685 MELK,MELK,MELK,MELK,MELK,MELK,MELK,MELK,MELK,MELK EXON Missense_T24M,Silent,Missense_T24M,Missense_T56M,Silent,Silent,Missense_T56M,Missense_T56M,Silent,Missense_T56M exm750859 9 36607589 [A/G] NM_001256689,NM_001256692,NM_001256691,NM_001256687,NR_046337,NM_001256693,NM_014791,NM_001256688,NM_001256690,NM_001256685 MELK,MELK,MELK,MELK,MELK,MELK,MELK,MELK,MELK,MELK EXON Missense_M163I,Missense_M64I,Missense_M115I,Missense_M147I,Silent,Missense_M1I,Missense_M195I,Missense_M124I,Missense_M124I,Missense_M195I exm750862 9 36607660 [A/G] NM_001256689,NM_001256692,NM_001256691,NM_001256687,NR_046337,NM_001256693,NM_014791,NM_001256688,NM_001256690,NM_001256685 MELK,MELK,MELK,MELK,MELK,MELK,MELK,MELK,MELK,MELK EXON Missense_K187R,Missense_K88R,Missense_K139R,Missense_K171R,Silent,Missense_K25R,Missense_K219R,Missense_K148R,Missense_K148R,Missense_K219R exm750870 9 36633121 [T/C] NM_001256689,NM_001256692,NM_001256691,NM_001256687,NR_046337,NM_001256693,NM_014791,NM_001256688,NM_001256690,NM_001256685 MELK,MELK,MELK,MELK,MELK,MELK,MELK,MELK,MELK,MELK EXON Missense_S221F,Missense_S122F,Missense_S173F,Missense_S205F,Silent,Missense_S59F,Missense_S253F,Missense_S182F,Missense_S182F,Missense_S253F exm750871 9 36633123 [A/G] NM_001256689,NM_001256692,NM_001256691,NM_001256687,NR_046337,NM_001256693,NM_014791,NM_001256688,NM_001256690,NM_001256685 MELK,MELK,MELK,MELK,MELK,MELK,MELK,MELK,MELK,MELK EXON Missense_M222V,Missense_M123V,Missense_M174V,Missense_M206V,Silent,Missense_M60V,Missense_M254V,Missense_M183V,Missense_M183V,Missense_M254V exm750880 9 36651762 [T/C] NM_001256689,NM_001256692,NM_001256691,NM_001256687,NR_046337,NM_001256693,NM_014791,NM_001256688,NM_001256690,NM_001256685 MELK,MELK,MELK,MELK,MELK,MELK,MELK,MELK,MELK,MELK EXON Missense_T282M,Missense_T183M,Missense_T234M,Missense_T266M,Silent,Missense_T120M,Missense_T314M,Missense_T243M,Missense_T243M,Missense_T314M exm750886 9 36651819 [A/G] NM_001256689,NM_001256692,NM_001256691,NM_001256687,NR_046337,NM_001256693,NM_014791,NM_001256688,NM_001256690,NM_001256685 MELK,MELK,MELK,MELK,MELK,MELK,MELK,MELK,MELK,MELK EXON Missense_R301K,Missense_R202K,Missense_R253K,Missense_R285K,Silent,Missense_R139K,Missense_R333K,Missense_R262K,Missense_R262K,Missense_R333K exm750889 9 36651864 [T/C] NM_001256689,NM_001256692,NM_001256691,NM_001256687,NR_046337,NM_001256693,NM_014791,NM_001256688,NM_001256690,NM_001256685 MELK,MELK,MELK,MELK,MELK,MELK,MELK,MELK,MELK,MELK EXON Missense_T316I,Missense_T217I,Missense_T268I,Missense_T300I,Silent,Missense_T154I,Missense_T348I,Missense_T277I,Missense_T277I,Missense_T348I exm2259351 9 36669341 [A/G] NM_001256689,NM_001256692,NM_001256691,NM_001256687,NR_046337,NM_001256693,NM_014791,NM_001256688,NM_001256690,NM_001256685 MELK,MELK,MELK,MELK,MELK,MELK,MELK,MELK,MELK,MELK EXON Synonymous_K449K,Synonymous_K350K,Synonymous_K401K,Synonymous_K433K,Silent,Synonymous_K287K,Synonymous_K481K,Synonymous_K410K,Synonymous_K410K,Synonymous_K440K exm750916 9 36669341 [A/G] NM_001256689,NM_001256692,NM_001256691,NM_001256687,NR_046337,NM_001256693,NM_014791,NM_001256688,NM_001256690,NM_001256685 MELK,MELK,MELK,MELK,MELK,MELK,MELK,MELK,MELK,MELK EXON Synonymous_K449K,Synonymous_K350K,Synonymous_K401K,Synonymous_K433K,Silent,Synonymous_K287K,Synonymous_K481K,Synonymous_K410K,Synonymous_K410K,Synonymous_K440K exm750925 9 36671123 [T/A] NM_001256689,NM_001256692,NM_001256691,NM_001256687,NR_046337,NM_001256693,NM_014791,NM_001256688,NM_001256690,NM_001256685 MELK,MELK,MELK,MELK,MELK,MELK,MELK,MELK,MELK,MELK EXON Missense_K513I,Missense_K414I,Missense_K465I,Missense_K497I,Silent,Missense_K351I,Missense_K545I,Missense_K474I,Missense_K474I,Missense_K504I exm750926 9 36671137 [A/G] NM_001256689,NM_001256692,NM_001256691,NM_001256687,NR_046337,NM_001256693,NM_014791,NM_001256688,NM_001256690,NM_001256685 MELK,MELK,MELK,MELK,MELK,MELK,MELK,MELK,MELK,MELK EXON Missense_A518T,Missense_A419T,Missense_A470T,Missense_A502T,Silent,Missense_A356T,Missense_A550T,Missense_A479T,Missense_A479T,Missense_A509T exm750931 9 36674897 [A/G] NM_001256689,NM_001256692,NM_001256691,NM_001256687,NR_046337,NM_001256693,NM_014791,NM_001256688,NM_001256690,NM_001256685 MELK,MELK,MELK,MELK,MELK,MELK,MELK,MELK,MELK,MELK EXON Missense_I549V,Missense_I450V,Missense_I501V,Missense_I533V,Silent,Missense_I387V,Missense_I581V,Missense_I510V,Missense_I510V,Missense_I540V exm2196153 9 36674904 [G/C] NM_001256689,NM_001256692,NM_001256691,NM_001256687,NR_046337,NM_001256693,NM_014791,NM_001256688,NM_001256690,NM_001256685 MELK,MELK,MELK,MELK,MELK,MELK,MELK,MELK,MELK,MELK EXON Missense_P551R,Missense_P452R,Missense_P503R,Missense_P535R,Silent,Missense_P389R,Missense_P583R,Missense_P512R,Missense_P512R,Missense_P542R exm2262644 9 36745892 [A/G] exm750947 9 36840623 [A/G] NM_016734 PAX5 EXON Synonymous_Y370Y exm2259352 9 36840623 [A/G] NM_016734 PAX5 EXON Synonymous_Y370Y exm750962 9 36882049 [T/C] NM_016734 PAX5 EXON Missense_A322T exm750967 9 36882090 [A/G] NM_016734 PAX5 EXON Missense_A308V exm750968 9 36882099 [T/C] NM_016734 PAX5 EXON Missense_R305H exm750987 9 36966688 [A/G] NM_016734 PAX5 EXON Missense_S213L exm750998 9 37006494 [T/C] NM_016734 PAX5 EXON Missense_V151I exm2264344 9 37020622 [A/C] NM_016734 PAX5 Silent exm751008 9 37034023 [A/T] NM_016734 PAX5 EXON Missense_D2E exm751022 9 37126514 [T/C] NM_032226 ZCCHC7 EXON Missense_S62L exm751026 9 37126588 [A/G] NM_032226 ZCCHC7 EXON Missense_D87N exm751029 9 37126682 [A/G] NM_032226 ZCCHC7 EXON Missense_G118D exm751039 9 37126916 [A/G] NM_032226 ZCCHC7 EXON Missense_G196E exm751040 9 37126922 [A/G] NM_032226 ZCCHC7 EXON Missense_E198G exm751042 9 37302186 [A/G] NM_032226 ZCCHC7 EXON Synonymous_G204G exm751043 9 37302197 [T/C] NM_032226 ZCCHC7 EXON Missense_I208T exm751047 9 37304236 [T/G] NM_032226 ZCCHC7 EXON Missense_S236A exm751048 9 37304269 [T/G] NM_032226 ZCCHC7 EXON Missense_D247Y exm751050 9 37304309 [A/G] NM_032226 ZCCHC7 EXON Missense_R260Q exm751063 9 37349426 [A/G] NM_032226 ZCCHC7 EXON Missense_A354T exm2196221 9 37349431 [A/G] NM_032226 ZCCHC7 EXON Synonymous_Q355Q exm751066 9 37349450 [A/G] NM_032226 ZCCHC7 Silent exm751073 9 37356849 [A/G] NM_032226 ZCCHC7 EXON Missense_V406I exm751076 9 37357072 [A/G] NM_032226 ZCCHC7 EXON Missense_Y480C exm751086 9 37422763 [T/C] NM_012203 GRHPR EXON Missense_L6F exm751102 9 37425990 [T/C] NM_012203 GRHPR EXON Missense_R96C exm751107 9 37426535 [T/C] NM_012203 GRHPR EXON Synonymous_R96R exm751109 9 37426543 [A/G] NM_012203 GRHPR EXON Missense_R99Q exm751113 9 37426590 [A/G] NM_012203 GRHPR EXON Missense_A115T exm751116 9 37426621 [A/G] NM_012203 GRHPR EXON Missense_R125Q exm751127 9 37429744 [A/G] NM_012203 GRHPR EXON Missense_R170Q exm751130 9 37429747 [A/G] NM_012203 GRHPR EXON Missense_R171H exm751143 9 37430599 [A/C] NM_012203 GRHPR EXON Missense_F230L exm751144 9 37430610 [T/C] NM_012203 GRHPR EXON Missense_M234T exm751145 9 37430644 [A/G] NM_012203 GRHPR Silent exm751160 9 37432114 [T/C] NM_012203 GRHPR EXON Missense_L282F exm751166 9 37436754 [T/C] NM_012203 GRHPR EXON Missense_P321L exm2259355 9 37440620 [A/G] NM_014872 ZBTB5 EXON Synonymous_C643C exm751190 9 37441383 [A/G] NM_014872 ZBTB5 EXON Missense_V389A exm751198 9 37441650 [T/C] NM_014872 ZBTB5 EXON Missense_D300G exm751200 9 37441705 [T/G] NM_014872 ZBTB5 EXON Missense_N282H exm751203 9 37441780 [T/C] NM_014872 ZBTB5 EXON Missense_A257T exm751208 9 37441812 [A/G] NM_014872 ZBTB5 EXON Missense_A246V exm751209 9 37441822 [T/C] NM_014872 ZBTB5 EXON Missense_N243D exm751214 9 37441909 [T/C] NM_014872 ZBTB5 EXON Missense_I214V exm751220 9 37442004 [T/C] NM_014872 ZBTB5 EXON Missense_R182H exm751225 9 37442133 [T/C] NM_014872 ZBTB5 EXON Missense_R139H exm751236 9 37442329 [T/C] NM_014872 ZBTB5 EXON Missense_A74T exm751250 9 37486109 [A/G] NM_022490 POLR1E EXON Missense_R22K exm751260 9 37486781 [A/G] NM_022490 POLR1E EXON Missense_R53K exm751261 9 37486798 [A/G] NM_022490 POLR1E EXON Missense_I59V exm751288 9 37493676 [A/G] NM_022490 POLR1E EXON Missense_I175V exm751294 9 37495255 [A/G] NM_022490 POLR1E EXON Missense_V213M exm751306 9 37498197 [A/G] NM_022490 POLR1E EXON Missense_A288T exm751313 9 37501735 [A/G] NM_022490 POLR1E EXON Missense_M332V exm751315 9 37501746 [G/C] NM_022490 POLR1E EXON Missense_K335N exm751317 9 37501807 [A/G] NM_022490 POLR1E EXON Missense_V356M exm751323 9 37503087 [A/G] NM_022490 POLR1E EXON Missense_R383K exm751328 9 37503144 [T/C] NM_022490 POLR1E EXON Missense_P402L exm751341 9 37512551 [A/G] NM_012166 FBXO10 EXON Missense_I955T exm751343 9 37512596 [T/C] NM_012166 FBXO10 EXON Missense_R940Q exm751345 9 37512653 [T/G] NM_012166 FBXO10 EXON Missense_P921H exm751347 9 37512704 [T/C] NM_012166 FBXO10 EXON Missense_R904H exm751348 9 37512712 [T/A] NM_012166 FBXO10 EXON Missense_D901E exm751357 9 37518130 [T/C] NM_012166 FBXO10 EXON Missense_D836N exm751359 9 37518202 [T/C] NM_012166 FBXO10 EXON Missense_D812N exm2248153 9 37518427 [A/G] NM_012166 FBXO10 EXON Missense_L737F exm751376 9 37521724 [T/C] NM_012166 FBXO10 EXON Missense_G681D exm751377 9 37521773 [T/C] NM_012166 FBXO10 EXON Missense_V665I exm751387 9 37522929 [T/C] NM_012166 FBXO10 EXON Missense_R608H exm751432 9 37537892 [T/G] NM_012166 FBXO10 EXON Missense_H212N exm751434 9 37537925 [T/C] NM_012166 FBXO10 EXON Missense_V201I exm751440 9 37541219 [T/C] NM_012166 FBXO10 EXON Missense_V183I exm751442 9 37541234 [A/G] NM_012166 FBXO10 EXON Missense_R178C exm751444 9 37541332 [A/C] NM_012166 FBXO10 EXON Missense_G145V exm751446 9 37541433 [A/C] NM_012166 FBXO10 EXON Missense_S111R exm751451 9 37541577 [A/C] NM_012166 FBXO10 EXON Missense_Q63H exm751453 9 37541606 [T/C] NM_012166 FBXO10 EXON Missense_E54K exm751458 9 37588898 [T/C] NM_001001790,NM_001134484,NM_001134485 TOMM5,TOMM5,TOMM5 EXON Missense_I51M,Silent,Missense_I85M exm751462 9 37592396 [A/G] NM_001001790,NM_001134484,NM_001134485 TOMM5,TOMM5,TOMM5 EXON Silent,Missense_P45L,Missense_P45L exm751464 9 37592427 [C/G] NM_001001790,NM_001134484,NM_001134485 TOMM5,TOMM5,TOMM5 EXON Missense_V35L,Missense_V35L,Missense_V35L exm2266813 9 37638744 [A/G] exm2262645 9 37685362 [T/C] NM_014907 FRMPD1 Silent exm751469 9 37692654 [A/C] NM_014907 FRMPD1 EXON Missense_T6P exm751472 9 37692711 [G/C] NM_014907 FRMPD1 EXON Missense_L25V exm751475 9 37692739 [A/G] NM_014907 FRMPD1 EXON Missense_R34Q exm751479 9 37707441 [A/G] NM_014907 FRMPD1 EXON Missense_A44T exm751480 9 37707448 [A/T] NM_014907 FRMPD1 EXON Missense_N46I exm751485 9 37707475 [A/G] NM_014907 FRMPD1 EXON Missense_R55Q exm751487 9 37707517 [A/G] NM_014907 FRMPD1 EXON Missense_Y69C exm751489 9 37708399 [T/G] NM_014907 FRMPD1 EXON Missense_G88V exm751497 9 37711382 [A/G] NM_014907 FRMPD1 EXON Missense_R133H exm751515 9 37729786 [T/C] NM_014907 FRMPD1 EXON Missense_A225V exm2259357 9 37731007 [T/C] NM_014907 FRMPD1 EXON Synonymous_D255D exm751523 9 37731012 [A/G] NM_014907 FRMPD1 EXON Missense_R257H exm2196349 9 37732362 [A/G] NM_014907 FRMPD1 EXON Missense_R307Q exm751532 9 37733514 [A/G] NM_014907 FRMPD1 EXON Missense_R347Q exm751537 9 37733752 [A/G] NM_014907 FRMPD1 EXON Missense_R383H exm751553 9 37737094 [T/C] NM_014907 FRMPD1 EXON Missense_V468A exm751562 9 37740134 [A/G] NM_014907 FRMPD1 EXON Missense_E537K exm751591 9 37740581 [T/G] NM_014907 FRMPD1 EXON Missense_A686S exm751592 9 37740594 [A/G] NM_014907 FRMPD1 EXON Missense_S690N exm751594 9 37740631 [A/C] NM_014907 FRMPD1 EXON Missense_S702R exm751596 9 37740669 [T/C] NM_014907 FRMPD1 EXON Missense_P715L exm751600 9 37740726 [T/C] NM_014907 FRMPD1 EXON Missense_P734L exm751605 9 37744419 [A/C] NM_014907 FRMPD1 EXON Missense_A797D exm751608 9 37744498 [A/C] NM_014907 FRMPD1 EXON Missense_S823R exm751609 9 37744509 [A/G] NM_014907 FRMPD1 EXON Missense_G827E exm751612 9 37744565 [T/G] NM_014907 FRMPD1 EXON Missense_Y846D exm751631 9 37744911 [T/C] NM_014907 FRMPD1 EXON Missense_A961V exm751636 9 37745042 [A/G] NM_014907 FRMPD1 EXON Missense_T1005A exm751637 9 37745046 [T/C] NM_014907 FRMPD1 EXON Missense_I1006T exm751638 9 37745102 [A/G] NM_014907 FRMPD1 EXON Missense_A1025T exm751644 9 37745304 [A/G] NM_014907 FRMPD1 EXON Missense_G1092E exm751648 9 37745399 [A/G] NM_014907 FRMPD1 EXON Missense_V1124I exm751653 9 37745469 [T/C] NM_014907 FRMPD1 EXON Missense_T1147I exm751655 9 37745550 [T/C] NM_014907 FRMPD1 EXON Missense_P1174L exm751656 9 37745562 [T/C] NM_014907 FRMPD1 EXON Missense_P1178L exm751659 9 37745678 [A/G] NM_014907 FRMPD1 EXON Missense_V1217I exm751661 9 37745690 [A/G] NM_014907 FRMPD1 EXON Missense_V1221I exm751664 9 37745741 [T/G] NM_014907 FRMPD1 EXON Missense_D1238Y exm751669 9 37745850 [A/G] NM_014907 FRMPD1 EXON Missense_H1274R exm2196386 9 37746062 [A/C] NM_014907 FRMPD1 EXON Missense_R1345S exm751695 9 37746572 [A/G] NM_014907 FRMPD1 EXON Missense_A1515T exm751697 9 37746585 [A/C] NM_014907 FRMPD1 EXON Missense_E1519A exm751707 9 37746648 [T/C] NM_014907 FRMPD1 EXON Missense_S1540L exm751716 9 37746714 [T/C] NM_014907 FRMPD1 EXON Missense_T1562M exm751718 9 37746746 [C/G] NM_014907 FRMPD1 EXON Missense_R1573G exm751719 9 37746756 [T/C] NM_014907 FRMPD1 EXON Missense_T1576M exm751723 9 37761961 [A/C] NM_144964 TRMT10B EXON Missense_K11N exm751725 9 37761972 [T/C] NM_144964 TRMT10B EXON Missense_P15L exm751744 9 37768126 [A/T] NM_144964 TRMT10B EXON Missense_K158N exm751754 9 37776283 [T/C] NM_144964 TRMT10B EXON Missense_V242A exm751757 9 37776324 [T/C] NM_144964 TRMT10B EXON Missense_R256C exm751761 9 37777619 [A/T] NM_144964 TRMT10B EXON Missense_Y289F exm751769 9 37780747 [T/C] NM_016042,NM_001002269 EXOSC3,EXOSC3 EXON Missense_I253V,Silent exm751773 9 37780831 [A/G] NM_016042,NM_001002269 EXOSC3,EXOSC3 EXON Missense_Y225H,Silent exm751783 9 37783937 [T/C] NM_016042,NM_001002269 EXOSC3,EXOSC3 EXON Missense_T150A,Missense_T150A exm751788 9 37784057 [T/C] NM_016042,NM_001002269 EXOSC3,EXOSC3 EXON Missense_V110I,Missense_V110I exm751798 9 37784849 [T/C] NM_016042,NM_001002269 EXOSC3,EXOSC3 EXON Missense_V65I,Missense_V65I exm751799 9 37784876 [T/G] NM_016042,NM_001002269 EXOSC3,EXOSC3 EXON Missense_N56H,Missense_N56H exm751800 9 37784891 [G/C] NM_016042,NM_001002269 EXOSC3,EXOSC3 EXON Missense_R51G,Missense_R51G exm751804 9 37784989 [C/G] NM_016042,NM_001002269 EXOSC3,EXOSC3 EXON Missense_R18P,Missense_R18P exm751805 9 37784990 [A/G] NM_016042,NM_001002269 EXOSC3,EXOSC3 EXON Missense_R18C,Missense_R18C exm751840 9 37857331 [G/C] NM_024345 DCAF10 EXON Missense_R383P exm751918 9 37956006 [A/G] NM_003028 SHB EXON Missense_S367L exm751927 9 37974759 [G/C] NM_003028 SHB EXON Missense_G305A exm751933 9 37974811 [A/G] NM_003028 SHB EXON Missense_R288W exm2266814 9 37990801 [A/G] NM_003028 SHB Silent exm2196476 9 38016014 [T/C] NM_003028 SHB EXON Missense_M278V exm751942 9 38067961 [T/C] NM_003028 SHB EXON Missense_A228T exm751957 9 38068330 [T/C] NM_003028 SHB EXON Missense_K105E exm751975 9 38395909 [T/C] NM_000692 ALDH1B1 EXON Missense_P55L exm751977 9 38395929 [T/G] NM_000692 ALDH1B1 EXON Missense_G62W exm2196499 9 38395983 [A/G] NM_000692 ALDH1B1 EXON Missense_V80M exm751981 9 38395996 [A/G] NM_000692 ALDH1B1 EXON Missense_R84Q exm751982 9 38396002 [T/C] NM_000692 ALDH1B1 EXON Missense_A86V exm751983 9 38396008 [A/G] NM_000692 ALDH1B1 EXON Missense_R88H exm751990 9 38396065 [T/G] NM_000692 ALDH1B1 EXON Missense_R107L exm751992 9 38396092 [A/G] NM_000692 ALDH1B1 EXON Missense_R116Q exm751997 9 38396271 [A/G] NM_000692 ALDH1B1 EXON Missense_V176I exm751998 9 38396316 [A/G] NM_000692 ALDH1B1 EXON Missense_M191V exm751999 9 38396338 [T/C] NM_000692 ALDH1B1 EXON Missense_P198L exm752001 9 38396346 [A/G] NM_000692 ALDH1B1 EXON Missense_A201T exm752003 9 38396388 [T/C] NM_000692 ALDH1B1 EXON Missense_P215S exm752006 9 38396502 [A/G] NM_000692 ALDH1B1 EXON Missense_V253M exm2248164 9 38396529 [A/G] NM_000692 ALDH1B1 EXON Missense_G262S exm752009 9 38396571 [A/G] NM_000692 ALDH1B1 EXON Missense_D276N exm752013 9 38396625 [A/G] NM_000692 ALDH1B1 EXON Missense_V294M exm752025 9 38396877 [T/C] NM_000692 ALDH1B1 EXON Nonsense_Q378X exm752041 9 38397115 [T/C] NM_000692 ALDH1B1 EXON Missense_M457T exm752044 9 38397154 [T/C] NM_000692 ALDH1B1 EXON Missense_V470A exm752045 9 38397184 [T/C] NM_000692 ALDH1B1 EXON Missense_T480M exm752059 9 38411404 [T/C] NM_001007563 IGFBPL1 EXON Missense_R277H exm752062 9 38411407 [T/C] NM_001007563 IGFBPL1 EXON Missense_D276G exm752063 9 38411408 [A/C] NM_001007563 IGFBPL1 EXON Missense_D276Y exm752064 9 38411409 [T/A] NM_001007563 IGFBPL1 EXON Missense_D275E exm752065 9 38411410 [T/G] NM_001007563 IGFBPL1 EXON Missense_D275A exm752066 9 38411411 [T/C] NM_001007563 IGFBPL1 EXON Missense_D275N exm752068 9 38411448 [A/C] NM_001007563 IGFBPL1 EXON Missense_D262E exm752073 9 38413239 [T/C] NM_001007563 IGFBPL1 EXON Missense_I228V exm752075 9 38413274 [T/C] NM_001007563 IGFBPL1 EXON Missense_R216Q exm752078 9 38413319 [A/C] NM_001007563 IGFBPL1 EXON Missense_L201R exm752079 9 38413325 [T/C] NM_001007563 IGFBPL1 EXON Missense_Q199R exm752080 9 38413331 [A/C] NM_001007563 IGFBPL1 EXON Missense_G197V exm2248167 9 38414124 [A/C] NM_001007563 IGFBPL1 EXON Missense_R179S exm752087 9 38414143 [A/C] NM_001007563 IGFBPL1 EXON Missense_G173V exm2259358 9 38440859 [T/C] exm752132 9 38575602 [T/G] NM_147195 ANKRD18A EXON Missense_E945D exm2248170 9 38596186 [T/A] NM_147195 ANKRD18A EXON Missense_V384E exm752175 9 38603188 [T/G] NM_147195 ANKRD18A EXON Missense_A277E exm752191 9 38615698 [T/C] NM_147195 ANKRD18A EXON Missense_E130K exm2274357 9 38615739 [A/C] NM_147195 ANKRD18A EXON Missense_C116F exm752249 9 39103743 [T/C] NM_033655 CNTNAP3 EXON Missense_R845H exm2271187 9 40157945 [T/G] exm752510 9 40774091 [T/C] NM_033160 ZNF658 EXON Missense_R395Q exm752513 9 40774167 [T/C] NM_033160 ZNF658 EXON Missense_A370T exm2248190 9 43627237 [A/G] NM_001145196 SPATA31A6 EXON Nonsense_Q484X exm2271190 9 44873756 [T/G] exm2264366 9 67078594 [A/C] exm752994 9 69238239 [A/G] NM_001085457 CBWD6 EXON Missense_T218M exm2248231 9 71002479 [T/G] NM_021965 PGM5 EXON Missense_K224N exm2197715 9 71098810 [T/C] NM_021965 PGM5 EXON Missense_T442M exm753268 9 71098881 [A/G] NM_021965 PGM5 EXON Missense_V466M exm753273 9 71098912 [T/C] NM_021965 PGM5 EXON Missense_T476M exm753284 9 71114174 [A/G] NM_021965 PGM5 EXON Missense_R504Q exm753286 9 71114202 [T/G] NM_021965 PGM5 EXON Missense_S513R exm2197722 9 71114210 [A/G] NM_021965 PGM5 EXON Missense_R516Q exm2197724 9 71114248 [A/G] NM_021965 PGM5 EXON Missense_D529N exm2271085 9 71128144 [T/C] NM_021965 PGM5 Silent exm2197732 9 71144546 [T/C] NM_021965 PGM5 EXON Missense_R560W exm753299 9 71152177 [A/G] NM_153237 TMEM252 EXON Missense_X171R exm753301 9 71152192 [A/G] NM_153237 TMEM252 EXON Nonsense_R166X exm753302 9 71152201 [T/C] NM_153237 TMEM252 EXON Missense_A163T exm753310 9 71152302 [A/G] NM_153237 TMEM252 EXON Missense_T129M exm753312 9 71152343 [C/G] NM_153237 TMEM252 EXON Missense_E115D exm753319 9 71155469 [T/C] NM_153237 TMEM252 EXON Missense_V88M exm753322 9 71155487 [T/C] NM_153237 TMEM252 EXON Missense_A82T exm753335 9 71155642 [T/C] NM_153237 TMEM252 EXON Nonsense_W30X exm753338 9 71395138 [T/C] NM_003558,NM_138333 PIP5K1B,FAM122A EXON Silent,Missense_P20S exm753357 9 71395477 [A/T] NM_003558,NM_138333 PIP5K1B,FAM122A EXON Silent,Missense_S133T exm753369 9 71395834 [A/G] NM_003558,NM_138333 PIP5K1B,FAM122A EXON Silent,Missense_G252R exm2197782 9 71437559 [A/C] NM_003558 PIP5K1B EXON Missense_A10E exm753374 9 71437571 [A/G] NM_003558 PIP5K1B EXON Missense_K14R exm753384 9 71503948 [A/G] NM_003558 PIP5K1B EXON Missense_G124R exm753386 9 71509354 [A/G] NM_003558 PIP5K1B EXON Missense_V191I exm753389 9 71509438 [G/C] NM_003558 PIP5K1B EXON Missense_E219Q exm753396 9 71532554 [A/C] NM_003558 PIP5K1B EXON Missense_P288T exm2197807 9 71538291 [A/G] NM_003558 PIP5K1B EXON Missense_K397R exm2271194 9 71543516 [T/C] NM_003558 PIP5K1B Silent exm753408 9 71549847 [A/G] NM_003558 PIP5K1B EXON Missense_A415T exm753420 9 71555661 [T/G] NM_003558 PIP5K1B EXON Missense_V486G exm753426 9 71606067 [T/C] NM_003558 PIP5K1B EXON Missense_P505L exm753438 9 71628038 [T/C] NM_002732 PRKACG EXON Missense_D324G exm753440 9 71628083 [T/C] NM_002732 PRKACG EXON Missense_K309R exm753447 9 71628207 [C/G] NM_002732 PRKACG EXON Missense_H268D exm2274359 9 71628213 [A/G] NM_002732 PRKACG EXON Missense_L266F exm753468 9 71628770 [A/G] NM_002732 PRKACG EXON Missense_V80A exm753471 9 71628906 [T/C] NM_002732 PRKACG EXON Missense_A35T exm753491 9 71661314 [A/G] NM_181425,NM_000144,NM_001161706 FXN,FXN,FXN EXON Missense_R60H,Missense_R60H,Missense_R60H exm753493 9 71661361 [A/G] NM_181425,NM_000144,NM_001161706 FXN,FXN,FXN EXON Missense_M76V,Missense_M76V,Missense_M76V exm753501 9 71679858 [T/G] NM_181425,NM_000144,NM_001161706 FXN,FXN,FXN EXON Missense_G130V,Missense_G130V,Missense_G130V exm753506 9 71679936 [T/C] NM_181425,NM_000144,NM_001161706 FXN,FXN,FXN EXON Missense_L156P,Missense_L156P,Missense_L156P exm753511 9 71687579 [T/C] NM_181425,NM_000144,NM_001161706 FXN,FXN,FXN EXON Missense_T181M,Synonymous_D178D,Silent exm753514 9 71687671 [A/G] NM_181425,NM_000144,NM_001161706 FXN,FXN,FXN EXON Silent,Missense_D209G,Silent exm2266830 9 71746253 [A/G] NM_001170414 TJP2 Silent exm753538 9 71820148 [A/G] NM_001170414,NM_001170630,NM_004817,NM_201629,NM_001170415,NM_001170416 TJP2,TJP2,TJP2,TJP2,TJP2,TJP2 EXON Silent,Silent,Silent,Silent,Missense_R24H,Missense_R24H exm753540 9 71827482 [G/C] NM_001170414,NM_001170630,NM_004817,NM_201629,NM_001170415,NM_001170416 TJP2,TJP2,TJP2,TJP2,TJP2,TJP2 EXON Missense_L4V,Missense_L27V,Missense_L27V,Missense_L27V,Missense_L31V,Missense_L58V exm753543 9 71831325 [T/C] NM_001170414,NM_001170630,NM_004817,NM_201629,NM_001170415,NM_001170416 TJP2,TJP2,TJP2,TJP2,TJP2,TJP2 EXON Missense_T39M,Missense_T62M,Missense_T62M,Missense_T62M,Missense_T66M,Missense_T93M exm753551 9 71833267 [A/G] NM_001170414,NM_001170630,NM_004817,NM_201629,NM_001170415,NM_001170416 TJP2,TJP2,TJP2,TJP2,TJP2,TJP2 EXON Missense_A89T,Missense_A112T,Missense_A112T,Missense_A112T,Missense_A116T,Missense_A143T exm753559 9 71835842 [A/C] NM_001170414,NM_001170630,NM_004817,NM_201629,NM_001170415,NM_001170416 TJP2,TJP2,TJP2,TJP2,TJP2,TJP2 EXON Missense_Q105K,Missense_Q128K,Missense_Q128K,Missense_Q128K,Missense_Q132K,Missense_Q159K exm753561 9 71835855 [C/G] NM_001170414,NM_001170630,NM_004817,NM_201629,NM_001170415,NM_001170416 TJP2,TJP2,TJP2,TJP2,TJP2,TJP2 EXON Missense_P109R,Missense_P132R,Missense_P132R,Missense_P132R,Missense_P136R,Missense_P163R exm753592 9 71836368 [T/C] NM_001170414,NM_001170630,NM_004817,NM_201629,NM_001170415,NM_001170416 TJP2,TJP2,TJP2,TJP2,TJP2,TJP2 EXON Missense_P280L,Missense_P303L,Missense_P303L,Missense_P303L,Missense_P307L,Missense_P334L exm753598 9 71840252 [A/G] NM_001170414,NM_001170630,NM_004817,NM_201629,NM_001170415,NM_001170416 TJP2,TJP2,TJP2,TJP2,TJP2,TJP2 EXON Missense_V306I,Missense_V329I,Missense_V329I,Missense_V329I,Missense_V333I,Missense_V360I exm753604 9 71840972 [T/C] NM_001170414,NM_001170630,NM_004817,NM_201629,NM_001170415,NM_001170416 TJP2,TJP2,TJP2,TJP2,TJP2,TJP2 EXON Missense_T341M,Missense_T364M,Missense_T364M,Missense_T364M,Missense_T368M,Missense_T395M exm753612 9 71842728 [T/C] NM_001170414,NM_001170630,NM_004817,NM_201629,NM_001170415,NM_001170416 TJP2,TJP2,TJP2,TJP2,TJP2,TJP2 EXON Missense_R397C,Missense_R420C,Missense_R420C,Missense_R420C,Missense_R424C,Missense_R451C exm753613 9 71842735 [A/G] NM_001170414,NM_001170630,NM_004817,NM_201629,NM_001170415,NM_001170416 TJP2,TJP2,TJP2,TJP2,TJP2,TJP2 EXON Missense_Q399R,Missense_Q422R,Missense_Q422R,Missense_Q422R,Missense_Q426R,Missense_Q453R exm753621 9 71843023 [A/C] NM_001170414,NM_001170630,NM_004817,NM_201629,NM_001170415,NM_001170416 TJP2,TJP2,TJP2,TJP2,TJP2,TJP2 EXON Missense_D459E,Missense_D482E,Missense_D482E,Missense_D482E,Missense_D486E,Missense_D513E exm753623 9 71844124 [A/G] NM_001170414,NM_001170630,NM_004817,NM_201629,NM_001170415,NM_001170416 TJP2,TJP2,TJP2,TJP2,TJP2,TJP2 EXON Missense_R470K,Missense_R493K,Missense_R493K,Missense_R493K,Missense_R497K,Missense_R524K exm753644 9 71851040 [C/G] NM_001170414,NM_001170630,NM_004817,NM_201629,NM_001170415,NM_001170416 TJP2,TJP2,TJP2,TJP2,TJP2,TJP2 EXON Missense_T603S,Missense_T626S,Missense_T626S,Missense_T626S,Missense_T630S,Missense_T657S exm753653 9 71851877 [A/G] NM_001170414,NM_001170630,NM_004817,NM_201629,NM_001170415,NM_001170416 TJP2,TJP2,TJP2,TJP2,TJP2,TJP2 EXON Missense_M645I,Missense_M668I,Missense_M668I,Missense_M668I,Missense_M672I,Missense_M699I exm753654 9 71851900 [G/C] NM_001170414,NM_001170630,NM_004817,NM_201629,NM_001170415,NM_001170416 TJP2,TJP2,TJP2,TJP2,TJP2,TJP2 EXON Missense_R653T,Missense_R676T,Missense_R676T,Missense_R676T,Missense_R680T,Missense_R707T exm2274360 9 71851954 [A/G] NM_001170414,NM_001170630,NM_004817,NM_201629,NM_001170415,NM_001170416 TJP2,TJP2,TJP2,TJP2,TJP2,TJP2 EXON Missense_G671E,Missense_G694E,Missense_G694E,Missense_G694E,Missense_G698E,Missense_G725E exm753660 9 71852004 [T/C] NM_001170414,NM_001170630,NM_004817,NM_201629,NM_001170415,NM_001170416 TJP2,TJP2,TJP2,TJP2,TJP2,TJP2 EXON Missense_S688P,Missense_S711P,Missense_S711P,Missense_S711P,Missense_S715P,Missense_S742P exm753661 9 71852010 [A/G] NM_001170414,NM_001170630,NM_004817,NM_201629,NM_001170415,NM_001170416 TJP2,TJP2,TJP2,TJP2,TJP2,TJP2 EXON Missense_S690G,Missense_S713G,Missense_S713G,Missense_S713G,Missense_S717G,Missense_S744G exm753667 9 71852839 [T/C] NM_001170414,NM_001170630,NM_004817,NM_201629,NM_001170415,NM_001170416 TJP2,TJP2,TJP2,TJP2,TJP2,TJP2 EXON Missense_I719T,Missense_I742T,Missense_I742T,Missense_I742T,Missense_I746T,Missense_I773T exm2248249 9 71852884 [T/C] NM_001170414,NM_001170630,NM_004817,NM_201629,NM_001170415,NM_001170416 TJP2,TJP2,TJP2,TJP2,TJP2,TJP2 EXON Missense_T734I,Missense_T757I,Missense_T757I,Missense_T757I,Missense_T761I,Missense_T788I exm753668 9 71853627 [A/C] NM_001170414,NM_001170630,NM_004817,NM_201629,NM_001170415,NM_001170416 TJP2,TJP2,TJP2,TJP2,TJP2,TJP2 EXON Missense_K736N,Missense_K759N,Missense_K759N,Missense_K759N,Missense_K763N,Missense_K790N exm753673 9 71853685 [A/G] NM_001170414,NM_001170630,NM_004817,NM_201629,NM_001170415,NM_001170416 TJP2,TJP2,TJP2,TJP2,TJP2,TJP2 EXON Missense_V756M,Missense_V779M,Missense_V779M,Missense_V779M,Missense_V783M,Missense_V810M exm753686 9 71861675 [A/G] NM_001170414,NM_001170630,NM_004817,NM_201629,NM_001170415,NM_001170416 TJP2,TJP2,TJP2,TJP2,TJP2,TJP2 EXON Missense_Q856R,Missense_Q879R,Missense_Q879R,Missense_Q879R,Missense_Q883R,Missense_Q910R exm753693 9 71862980 [T/C] NM_001170414,NM_001170630,NM_004817,NM_201629,NM_001170415,NM_001170416 TJP2,TJP2,TJP2,TJP2,TJP2,TJP2 EXON Missense_M884T,Missense_M907T,Missense_M907T,Missense_M907T,Missense_M911T,Missense_M938T exm753699 9 71863070 [T/C] NM_001170414,NM_001170630,NM_004817,NM_201629,NM_001170415,NM_001170416 TJP2,TJP2,TJP2,TJP2,TJP2,TJP2 EXON Missense_L914P,Missense_L937P,Missense_L937P,Missense_L937P,Missense_L941P,Missense_L968P exm753702 9 71863159 [T/C] NM_001170414,NM_001170630,NM_004817,NM_201629,NM_001170415,NM_001170416 TJP2,TJP2,TJP2,TJP2,TJP2,TJP2 EXON Silent,Missense_R967W,Silent,Silent,Silent,Silent exm753705 9 71863235 [A/G] NM_001170414,NM_001170630,NM_004817,NM_201629,NM_001170415,NM_001170416 TJP2,TJP2,TJP2,TJP2,TJP2,TJP2 EXON Silent,Missense_H992R,Silent,Silent,Silent,Silent exm753707 9 71864294 [A/G] NM_001170414,NM_001170630,NM_004817,NM_201629,NM_001170415,NM_001170416 TJP2,TJP2,TJP2,TJP2,TJP2,TJP2 EXON Silent,Silent,Missense_I962V,Silent,Silent,Missense_I993V exm753720 9 71865988 [T/C] NM_001170414,NM_004817,NM_201629,NM_001170415,NM_001170416 TJP2,TJP2,TJP2,TJP2,TJP2 EXON Silent,Missense_S1010F,Silent,Missense_S977F,Missense_S1041F exm753722 9 71866026 [T/G] NM_001170414,NM_004817,NM_201629,NM_001170415,NM_001170416 TJP2,TJP2,TJP2,TJP2,TJP2 EXON Silent,Missense_A1023S,Silent,Missense_A990S,Missense_A1054S exm753723 9 71866027 [T/C] NM_001170414,NM_004817,NM_201629,NM_001170415,NM_001170416 TJP2,TJP2,TJP2,TJP2,TJP2 EXON Silent,Missense_A1023V,Silent,Missense_A990V,Missense_A1054V exm2197909 9 71866098 [T/C] NM_001170414,NM_004817,NM_201629,NM_001170415,NM_001170416 TJP2,TJP2,TJP2,TJP2,TJP2 EXON Silent,Missense_R1047W,Silent,Missense_R1014W,Missense_R1078W exm2248250 9 71866119 [A/G] NM_001170414,NM_004817,NM_201629,NM_001170415,NM_001170416 TJP2,TJP2,TJP2,TJP2,TJP2 EXON Silent,Missense_T1054A,Silent,Missense_T1021A,Missense_T1085A exm753729 9 71866149 [T/G] NM_001170414,NM_004817,NM_201629,NM_001170415,NM_001170416 TJP2,TJP2,TJP2,TJP2,TJP2 EXON Silent,Missense_V1064L,Silent,Missense_V1031L,Missense_V1095L exm753735 9 71867729 [A/C] NM_001170414,NM_004817,NM_201629,NM_001170415,NM_001170416 TJP2,TJP2,TJP2,TJP2,TJP2 Silent,Silent,Silent,Silent,Silent exm753736 9 71867731 [A/G] NM_001170414,NM_004817,NM_201629,NM_001170415,NM_001170416 TJP2,TJP2,TJP2,TJP2,TJP2 EXON Missense_I938V,Missense_I1108V,Missense_I961V,Missense_I1075V,Missense_I1139V exm753741 9 71867801 [T/C] NM_001170414,NM_004817,NM_201629,NM_001170415,NM_001170416 TJP2,TJP2,TJP2,TJP2,TJP2 EXON Missense_T961M,Missense_T1131M,Missense_T984M,Missense_T1098M,Missense_T1162M exm753754 9 71869274 [A/G] NM_001170414,NM_004817,NM_201629,NM_001170415,NM_001170416 TJP2,TJP2,TJP2,TJP2,TJP2 EXON Missense_R1016Q,Missense_R1186Q,Missense_R1039Q,Missense_R1153Q,Missense_R1217Q exm2266831 9 71893554 [A/G] exm2197926 9 71986508 [A/G] NM_001127608,NM_004816 FAM189A2,FAM189A2 EXON Missense_V36M,Missense_V36M exm753782 9 71992563 [T/C] NM_001127608,NM_004816 FAM189A2,FAM189A2 EXON Missense_H133Y,Missense_H133Y exm753789 9 71998569 [A/C] NM_001127608,NM_004816 FAM189A2,FAM189A2 EXON Missense_P173H,Missense_P173H exm753792 9 71998586 [A/G] NM_001127608,NM_004816 FAM189A2,FAM189A2 EXON Missense_G179R,Missense_G179R exm753799 9 71998673 [T/C] NM_001127608,NM_004816 FAM189A2,FAM189A2 EXON Nonsense_Q208X,Nonsense_Q208X exm753803 9 71998927 [T/C] NM_001127608,NM_004816 FAM189A2,FAM189A2 EXON Missense_T230I,Missense_T230I exm753805 9 71998936 [T/C] NM_001127608,NM_004816 FAM189A2,FAM189A2 EXON Missense_T233I,Missense_T233I exm753812 9 72000795 [A/G] NM_001127608,NM_004816 FAM189A2,FAM189A2 EXON Missense_R263Q,Missense_R263Q exm753821 9 72003100 [T/G] NM_001127608,NM_004816 FAM189A2,FAM189A2 EXON Missense_A295S,Missense_A295S exm753823 9 72003181 [T/C] NM_001127608,NM_004816 FAM189A2,FAM189A2 EXON Missense_P322S,Missense_P322S exm753827 9 72003292 [A/G] NM_001127608,NM_004816 FAM189A2,FAM189A2 EXON Missense_N359D,Missense_N359D exm753833 9 72006566 [T/C] NM_001127608,NM_004816 FAM189A2,FAM189A2 EXON Missense_S400L,Missense_S400L exm2259407 9 72006603 [T/C] NM_001127608,NM_004816 FAM189A2,FAM189A2 EXON Synonymous_C412C,Synonymous_C412C exm753842 9 72006671 [T/C] NM_001127608,NM_004816 FAM189A2,FAM189A2 EXON Missense_A435V,Missense_A435V exm753887 9 72071237 [T/C] NM_001163 APBA1 EXON Missense_V572M exm2197975 9 72071270 [A/G] NM_001163 APBA1 EXON Missense_R561W exm753898 9 72071342 [T/C] NM_001163 APBA1 EXON Missense_M537V exm753917 9 72091019 [A/G] NM_001163 APBA1 EXON Missense_S414L exm753946 9 72131334 [C/G] NM_001163 APBA1 EXON Missense_E265Q exm753957 9 72131577 [A/C] NM_001163 APBA1 EXON Missense_S184A exm753970 9 72131832 [T/C] NM_001163 APBA1 EXON Missense_A99T exm753980 9 72333260 [A/G] NM_001099666 PTAR1 EXON Missense_X403R exm753981 9 72333265 [T/C] NM_001099666 PTAR1 EXON Missense_S401N exm753985 9 72333461 [T/C] NM_001099666 PTAR1 EXON Missense_M336V exm753987 9 72333599 [A/G] NM_001099666 PTAR1 EXON Missense_R317W exm753988 9 72338293 [G/C] NM_001099666 PTAR1 EXON Missense_S299T exm753998 9 72347242 [T/C] NM_001099666 PTAR1 EXON Missense_Q152R exm753999 9 72349104 [T/G] NM_001099666 PTAR1 EXON Missense_L130F exm754010 9 72365864 [T/C] NM_001099666 PTAR1 EXON Missense_D30G exm754017 9 72435826 [T/C] NM_001010940 C9orf135 EXON Missense_W11R exm754018 9 72435842 [A/G] NM_001010940 C9orf135 EXON Missense_Q16R exm754019 9 72435884 [A/C] NM_001010940 C9orf135 EXON Missense_K30T exm754021 9 72435894 [T/G] NM_001010940 C9orf135 EXON Synonymous_L33L exm2259409 9 72435894 [T/G] NM_001010940 C9orf135 EXON Synonymous_L33L exm754023 9 72459437 [T/C] NM_001010940 C9orf135 EXON Missense_R53C exm754024 9 72459438 [A/G] NM_001010940 C9orf135 EXON Missense_R53H exm2259410 9 72471575 [T/C] NM_001010940 C9orf135 EXON Synonymous_S122S exm754042 9 72471585 [A/G] NM_001010940 C9orf135 EXON Missense_E126K exm754045 9 72472824 [A/G] NM_001010940 C9orf135 Silent exm754048 9 72472850 [T/A] NM_001010940 C9orf135 EXON Missense_F136I exm754053 9 72501775 [A/C] NM_001010940 C9orf135 EXON Synonymous_S157S exm2259411 9 72501775 [A/C] NM_001010940 C9orf135 EXON Synonymous_S157S exm754054 9 72501780 [A/G] NM_001010940 C9orf135 EXON Missense_D159G exm2266911 9 72520270 [A/G] NM_001010940 C9orf135 Silent exm754058 9 72520897 [A/G] NM_001010940 C9orf135 EXON Missense_I179V exm754062 9 72520928 [T/C] NM_001010940 C9orf135 EXON Missense_T189M exm2248255 9 72520982 [A/G] NM_001010940 C9orf135 EXON Missense_G207E exm754069 9 72659143 [C/G] NM_153267 MAMDC2 EXON Missense_L10F exm754083 9 72723204 [A/G] NM_153267 MAMDC2 EXON Missense_E76K exm754087 9 72723302 [T/G] NM_153267 MAMDC2 EXON Missense_D108E exm754091 9 72723324 [T/C] NM_153267 MAMDC2 EXON Missense_W116R exm754102 9 72727998 [A/G] NM_153267 MAMDC2 EXON Missense_R198Q exm754106 9 72741089 [A/G] NM_153267 MAMDC2 EXON Missense_V220M exm754109 9 72741149 [A/G] NM_153267 MAMDC2 EXON Missense_T240A exm754111 9 72741158 [A/G] NM_153267 MAMDC2 EXON Missense_M243V exm754117 9 72741297 [T/C] NM_153267 MAMDC2 EXON Missense_A289V exm754120 9 72741312 [A/G] NM_153267 MAMDC2 EXON Missense_S294N exm2248257 9 72746451 [A/C] NM_153267 MAMDC2 EXON Missense_A306D exm754128 9 72755177 [T/C] NM_153267 MAMDC2 EXON Missense_R371W exm754129 9 72755180 [G/C] NM_153267 MAMDC2 EXON Missense_A372P exm2198056 9 72758725 [T/C] NM_153267 MAMDC2 EXON Missense_M465T exm754143 9 72783618 [A/G] NM_153267,NR_040076 MAMDC2,LOC100507244 EXON Missense_V469M,Silent exm754152 9 72785531 [A/T] NM_153267,NR_040076 MAMDC2,LOC100507244 EXON Missense_D545E,Silent exm2198065 9 72833310 [T/C] NM_153267,NR_039990 MAMDC2,LOC100507299 EXON Missense_L570S,Silent exm754159 9 72833475 [A/G] NM_153267,NR_039990 MAMDC2,LOC100507299 EXON Missense_R625Q,Silent exm754161 9 72833511 [A/G] NM_153267,NR_039990 MAMDC2,LOC100507299 EXON Missense_Q637R,Silent exm754162 9 72840691 [T/C] NM_153267,NR_039990 MAMDC2,LOC100507299 EXON Missense_V646A,Silent exm754168 9 72840887 [T/C] NM_153267,NR_039990 MAMDC2,LOC100507299 EXON Missense_M667T,Silent exm754182 9 72879264 [T/C] NM_015110 SMC5 EXON Missense_M77T exm2198078 9 72882867 [C/G] NM_015110 SMC5 EXON Missense_S119C exm754191 9 72892341 [T/G] NM_015110 SMC5 EXON Missense_A166S exm754210 9 72897434 [A/G] NM_015110 SMC5 EXON Missense_V306I exm754211 9 72897440 [T/C] NM_015110 SMC5 EXON Missense_C308R exm754212 9 72897441 [A/G] NM_015110 SMC5 EXON Missense_C308Y exm754220 9 72901141 [A/G] NM_015110 SMC5 EXON Missense_Q336R exm754221 9 72901167 [A/G] NM_015110 SMC5 EXON Missense_I345V exm754228 9 72913041 [A/G] NM_015110 SMC5 EXON Missense_N405D exm754229 9 72913053 [T/C] NM_015110 SMC5 EXON Missense_R409W exm754236 9 72914982 [T/C] NM_015110 SMC5 EXON Missense_R444C exm754237 9 72914992 [A/G] NM_015110 SMC5 EXON Missense_N447S exm2198090 9 72915015 [A/C] NM_015110 SMC5 EXON Missense_K455Q exm754257 9 72938446 [A/G] NM_015110 SMC5 EXON Missense_R733Q exm754262 9 72939033 [A/G] NM_015110 SMC5 EXON Missense_A791T exm754266 9 72959068 [A/C] NM_015110 SMC5 EXON Missense_F802L exm754287 9 72967219 [A/G] NM_015110 SMC5 EXON Missense_R1093H exm754307 9 73028001 [T/C] NM_001206 KLF9 EXON Missense_M93I exm754311 9 73028142 [A/C] NM_001206 KLF9 EXON Missense_E46D exm754314 9 73028201 [A/G] NM_001206 KLF9 EXON Missense_H27Y exm2259414 9 73080367 [T/G] exm2262671 9 73133551 [A/G] exm754321 9 73150873 [T/G] NM_206944,NM_001007471,NM_020952,NM_024971,NM_206947,NM_206946,NM_206945 TRPM3,TRPM3,TRPM3,TRPM3,TRPM3,TRPM3,TRPM3 EXON Missense_N1544T,Missense_N1707T,Missense_N1554T,Missense_N1566T,Missense_N1569T,Missense_N1579T,Missense_N1556T exm754324 9 73150918 [T/C] NM_206944,NM_001007471,NM_020952,NM_024971,NM_206947,NM_206946,NM_206945 TRPM3,TRPM3,TRPM3,TRPM3,TRPM3,TRPM3,TRPM3 EXON Missense_R1529K,Missense_R1692K,Missense_R1539K,Missense_R1551K,Missense_R1554K,Missense_R1564K,Missense_R1541K exm754332 9 73150984 [T/C] NM_206944,NM_001007471,NM_020952,NM_024971,NM_206947,NM_206946,NM_206945 TRPM3,TRPM3,TRPM3,TRPM3,TRPM3,TRPM3,TRPM3 EXON Missense_R1507Q,Missense_R1670Q,Missense_R1517Q,Missense_R1529Q,Missense_R1532Q,Missense_R1542Q,Missense_R1519Q exm754335 9 73151003 [A/G] NM_206944,NM_001007471,NM_020952,NM_024971,NM_206947,NM_206946,NM_206945 TRPM3,TRPM3,TRPM3,TRPM3,TRPM3,TRPM3,TRPM3 EXON Missense_R1501W,Missense_R1664W,Missense_R1511W,Missense_R1523W,Missense_R1526W,Missense_R1536W,Missense_R1513W exm754339 9 73151059 [A/G] NM_206944,NM_001007471,NM_020952,NM_024971,NM_206947,NM_206946,NM_206945 TRPM3,TRPM3,TRPM3,TRPM3,TRPM3,TRPM3,TRPM3 EXON Missense_A1482V,Missense_A1645V,Missense_A1492V,Missense_A1504V,Missense_A1507V,Missense_A1517V,Missense_A1494V exm754341 9 73151110 [A/G] NM_206944,NM_001007471,NM_020952,NM_024971,NM_206947,NM_206946,NM_206945 TRPM3,TRPM3,TRPM3,TRPM3,TRPM3,TRPM3,TRPM3 EXON Missense_T1465I,Missense_T1628I,Missense_T1475I,Missense_T1487I,Missense_T1490I,Missense_T1500I,Missense_T1477I exm754346 9 73151140 [T/A] NM_206944,NM_001007471,NM_020952,NM_024971,NM_206947,NM_206946,NM_206945 TRPM3,TRPM3,TRPM3,TRPM3,TRPM3,TRPM3,TRPM3 EXON Missense_N1455I,Missense_N1618I,Missense_N1465I,Missense_N1477I,Missense_N1480I,Missense_N1490I,Missense_N1467I exm754348 9 73151174 [T/C] NM_206944,NM_001007471,NM_020952,NM_024971,NM_206947,NM_206946,NM_206945 TRPM3,TRPM3,TRPM3,TRPM3,TRPM3,TRPM3,TRPM3 EXON Missense_A1444T,Missense_A1607T,Missense_A1454T,Missense_A1466T,Missense_A1469T,Missense_A1479T,Missense_A1456T exm754355 9 73151387 [T/C] NM_206944,NM_001007471,NM_020952,NM_024971,NM_206947,NM_206946,NM_206945 TRPM3,TRPM3,TRPM3,TRPM3,TRPM3,TRPM3,TRPM3 EXON Missense_G1373R,Missense_G1536R,Missense_G1383R,Missense_G1395R,Missense_G1398R,Missense_G1408R,Missense_G1385R exm754360 9 73151552 [C/G] NM_206944,NM_001007471,NM_020952,NM_024971,NM_206947,NM_206946,NM_206945 TRPM3,TRPM3,TRPM3,TRPM3,TRPM3,TRPM3,TRPM3 EXON Missense_E1318Q,Missense_E1481Q,Missense_E1328Q,Missense_E1340Q,Missense_E1343Q,Missense_E1353Q,Missense_E1330Q exm754370 9 73151795 [T/C] NM_206944,NM_001007471,NM_020952,NM_024971,NM_206947,NM_206946,NM_206945 TRPM3,TRPM3,TRPM3,TRPM3,TRPM3,TRPM3,TRPM3 EXON Missense_I1237V,Missense_I1400V,Missense_I1247V,Missense_I1259V,Missense_I1262V,Missense_I1272V,Missense_I1249V exm754379 9 73151996 [A/G] NM_206944,NM_001007471,NM_020952,NM_024971,NM_206947,NM_206946,NM_206945 TRPM3,TRPM3,TRPM3,TRPM3,TRPM3,TRPM3,TRPM3 EXON Missense_R1170C,Missense_R1333C,Missense_R1180C,Missense_R1192C,Missense_R1195C,Missense_R1205C,Missense_R1182C exm754380 9 73151999 [T/G] NM_206944,NM_001007471,NM_020952,NM_024971,NM_206947,NM_206946,NM_206945 TRPM3,TRPM3,TRPM3,TRPM3,TRPM3,TRPM3,TRPM3 EXON Missense_P1169T,Missense_P1332T,Missense_P1179T,Missense_P1191T,Missense_P1194T,Missense_P1204T,Missense_P1181T exm754382 9 73152037 [T/C] NM_206944,NM_001007471,NM_020952,NM_024971,NM_206947,NM_206946,NM_206945 TRPM3,TRPM3,TRPM3,TRPM3,TRPM3,TRPM3,TRPM3 EXON Missense_G1156D,Missense_G1319D,Missense_G1166D,Missense_G1178D,Missense_G1181D,Missense_G1191D,Missense_G1168D exm754384 9 73152062 [T/G] NM_206944,NM_001007471,NM_020952,NM_024971,NM_206947,NM_206946,NM_206945 TRPM3,TRPM3,TRPM3,TRPM3,TRPM3,TRPM3,TRPM3 EXON Missense_L1148I,Missense_L1311I,Missense_L1158I,Missense_L1170I,Missense_L1173I,Missense_L1183I,Missense_L1160I exm754396 9 73152169 [T/C] NM_206944,NM_001007471,NM_020952,NM_024971,NM_206947,NM_206946,NM_206945 TRPM3,TRPM3,TRPM3,TRPM3,TRPM3,TRPM3,TRPM3 EXON Missense_R1112Q,Missense_R1275Q,Missense_R1122Q,Missense_R1134Q,Missense_R1137Q,Missense_R1147Q,Missense_R1124Q exm2198153 9 73152208 [A/C] NM_206944,NM_001007471,NM_020952,NM_024971,NM_206947,NM_206946,NM_206945 TRPM3,TRPM3,TRPM3,TRPM3,TRPM3,TRPM3,TRPM3 EXON Missense_R1099L,Missense_R1262L,Missense_R1109L,Missense_R1121L,Missense_R1124L,Missense_R1134L,Missense_R1111L exm754403 9 73152226 [A/T] NM_206944,NM_001007471,NM_020952,NM_024971,NM_206947,NM_206946,NM_206945 TRPM3,TRPM3,TRPM3,TRPM3,TRPM3,TRPM3,TRPM3 EXON Missense_L1093Q,Missense_L1256Q,Missense_L1103Q,Missense_L1115Q,Missense_L1118Q,Missense_L1128Q,Missense_L1105Q exm754411 9 73167783 [A/G] NM_206944,NM_001007471,NM_020952,NM_024971,NM_206947,NM_206946,NM_206945 TRPM3,TRPM3,TRPM3,TRPM3,TRPM3,TRPM3,TRPM3 EXON Missense_P1009L,Missense_P1172L,Missense_P1019L,Missense_P1031L,Missense_P1034L,Missense_P1044L,Missense_P1021L exm754427 9 73213384 [A/G] NM_206944,NM_001007471,NM_020952,NM_024971,NM_206947,NM_206946,NM_206945 TRPM3,TRPM3,TRPM3,TRPM3,TRPM3,TRPM3,TRPM3 EXON Missense_F825S,Missense_F988S,Missense_F835S,Missense_F847S,Missense_F850S,Missense_F860S,Missense_F837S exm754448 9 73225639 [C/G] NM_206944,NM_001007471,NM_020952,NM_024971,NM_206947,NM_206946,NM_206945 TRPM3,TRPM3,TRPM3,TRPM3,TRPM3,TRPM3,TRPM3 EXON Missense_E676D,Missense_E839D,Missense_E686D,Missense_E698D,Missense_E701D,Missense_E711D,Missense_E688D exm754449 9 73225644 [T/C] NM_206944,NM_001007471,NM_020952,NM_024971,NM_206947,NM_206946,NM_206945 TRPM3,TRPM3,TRPM3,TRPM3,TRPM3,TRPM3,TRPM3 EXON Missense_G675R,Missense_G838R,Missense_G685R,Missense_G697R,Missense_G700R,Missense_G710R,Missense_G687R exm754454 9 73233790 [A/C] NM_206944,NM_001007471,NM_020952,NM_024971,NM_206947,NM_206946,NM_206945 TRPM3,TRPM3,TRPM3,TRPM3,TRPM3,TRPM3,TRPM3 EXON Missense_G609V,Missense_G772V,Missense_G619V,Missense_G631V,Missense_G634V,Missense_G644V,Missense_G621V exm754493 9 73255564 [A/G] NM_206944,NM_001007471,NM_020952,NM_024971,NM_206947,NM_206946,NM_206945 TRPM3,TRPM3,TRPM3,TRPM3,TRPM3,TRPM3,TRPM3 EXON Missense_S300L,Missense_S453L,Missense_S300L,Missense_S300L,Missense_S325L,Missense_S325L,Missense_S300L exm754495 9 73296473 [A/G] NM_206944,NM_001007471,NM_020952,NM_024971,NM_206947,NM_206946,NM_206945 TRPM3,TRPM3,TRPM3,TRPM3,TRPM3,TRPM3,TRPM3 EXON Missense_S279P,Missense_S432P,Missense_S279P,Missense_S279P,Missense_S304P,Missense_S304P,Missense_S279P exm754542 9 73461471 [A/G] NM_206944,NM_001007471,NM_020952,NM_024971,NM_206947,NM_206946,NM_206945,NM_001007470,NM_206948 TRPM3,TRPM3,TRPM3,TRPM3,TRPM3,TRPM3,TRPM3,TRPM3,TRPM3 EXON Missense_L14F,Missense_L167F,Missense_L14F,Missense_L14F,Missense_L14F,Missense_L14F,Missense_L14F,Missense_L14F,Missense_L14F exm754549 9 73477973 [T/C] NM_206944,NM_001007471,NM_020952,NM_024971,NM_206947,NM_206946,NM_206945,NM_001007470,NM_206948 TRPM3,TRPM3,TRPM3,TRPM3,TRPM3,TRPM3,TRPM3,TRPM3,TRPM3 EXON Silent,Missense_V105M,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm2259415 9 73598950 [A/G] NM_001007471 TRPM3 Silent exm754565 9 73736227 [T/C] NM_001007471 TRPM3 EXON Missense_Q15R exm2248269 9 73736264 [G/C] NM_001007471 TRPM3 EXON Missense_E3Q exm-rs4745062 9 73784264 [T/C] exm2262672 9 74039166 [T/C] exm2271087 9 74186310 [T/C] exm754574 9 74300174 [A/C] NM_001135820,NM_013390 TMEM2,TMEM2 EXON Missense_R1301I,Missense_R1364I exm754588 9 74305020 [T/C] NM_001135820,NM_013390 TMEM2,TMEM2 EXON Missense_G1217D,Missense_G1280D exm754594 9 74305098 [T/C] NM_001135820,NM_013390 TMEM2,TMEM2 EXON Missense_S1191N,Missense_S1254N exm754605 9 74309501 [T/C] NM_001135820,NM_013390 TMEM2,TMEM2 EXON Missense_H1144R,Missense_H1207R exm754607 9 74312933 [T/C] NM_001135820,NM_013390 TMEM2,TMEM2 EXON Missense_T1126A,Missense_T1189A exm754610 9 74313057 [G/C] NM_001135820,NM_013390 TMEM2,TMEM2 EXON Missense_Q1084H,Missense_Q1147H exm754613 9 74315561 [A/G] NM_001135820,NM_013390 TMEM2,TMEM2 EXON Missense_T1062M,Missense_T1125M exm754615 9 74315589 [T/C] NM_001135820,NM_013390 TMEM2,TMEM2 EXON Missense_E1053K,Missense_E1116K exm2198279 9 74315645 [A/T] NM_001135820,NM_013390 TMEM2,TMEM2 EXON Missense_K1034I,Missense_K1097I exm2259417 9 74319594 [A/G] NM_001135820,NM_013390 TMEM2,TMEM2 EXON Synonymous_V974V,Synonymous_V1037V exm754630 9 74319677 [T/C] NM_001135820,NM_013390 TMEM2,TMEM2 EXON Missense_I947V,Missense_I1010V exm754638 9 74324239 [T/C] NM_001135820,NM_013390 TMEM2,TMEM2 EXON Missense_R911H,Missense_R974H exm754643 9 74324346 [T/G] NM_001135820,NM_013390 TMEM2,TMEM2 EXON Missense_E875D,Missense_E938D exm754649 9 74327120 [T/C] NM_001135820,NM_013390 TMEM2,TMEM2 EXON Missense_S820N,Missense_S883N exm754653 9 74327166 [T/C] NM_001135820,NM_013390 TMEM2,TMEM2 EXON Missense_I805V,Missense_I868V exm754659 9 74332864 [A/G] NM_001135820,NM_013390 TMEM2,TMEM2 EXON Missense_A737V,Missense_A800V exm754663 9 74332970 [A/G] NM_001135820,NM_013390 TMEM2,TMEM2 EXON Missense_P702S,Missense_P765S exm754670 9 74340500 [A/C] NM_001135820,NM_013390 TMEM2,TMEM2 EXON Missense_F662L,Missense_F725L exm754682 9 74345063 [A/G] NM_001135820,NM_013390 TMEM2,TMEM2 EXON Missense_P564L,Missense_P627L exm754685 9 74345102 [T/C] NM_001135820,NM_013390 TMEM2,TMEM2 EXON Missense_R551K,Missense_R614K exm754686 9 74345106 [G/C] NM_001135820,NM_013390 TMEM2,TMEM2 EXON Missense_Q550E,Missense_Q613E exm754703 9 74349809 [C/G] NM_001135820,NM_013390 TMEM2,TMEM2 EXON Silent,Missense_A436P exm754705 9 74349846 [T/A] NM_001135820,NM_013390 TMEM2,TMEM2 EXON Silent,Missense_D423E exm754706 9 74349877 [A/G] NM_001135820,NM_013390 TMEM2,TMEM2 EXON Silent,Missense_V413A exm754726 9 74360034 [T/C] NM_001135820,NM_013390 TMEM2,TMEM2 EXON Missense_I312V,Missense_I312V exm754728 9 74360096 [T/C] NM_001135820,NM_013390 TMEM2,TMEM2 EXON Missense_R291H,Missense_R291H exm754736 9 74360234 [T/C] NM_001135820,NM_013390 TMEM2,TMEM2 EXON Missense_R245K,Missense_R245K exm754746 9 74360477 [A/T] NM_001135820,NM_013390 TMEM2,TMEM2 EXON Missense_D164V,Missense_D164V exm754753 9 74361209 [A/T] NM_001135820,NM_013390 TMEM2,TMEM2 EXON Missense_Q127L,Missense_Q127L exm754754 9 74361233 [T/C] NM_001135820,NM_013390 TMEM2,TMEM2 EXON Missense_R119H,Missense_R119H exm754756 9 74365048 [T/G] NM_001135820,NM_013390 TMEM2,TMEM2 EXON Missense_N81T,Missense_N81T exm2198321 9 74365261 [T/G] NM_001135820,NM_013390 TMEM2,TMEM2 EXON Missense_S10Y,Missense_S10Y exm2276820 9 74477523 [A/C] NM_016014 FAM108B1 EXON Missense_V286L exm754797 9 74489863 [T/C] NM_016014,NM_001025780 FAM108B1,FAM108B1 EXON Missense_R45H,Missense_R45H exm754806 9 74526675 [A/G] NM_182505 C9orf85 EXON Missense_A9T exm754818 9 74561958 [T/C] NM_182505 C9orf85 EXON Missense_R47C exm754821 9 74561983 [A/G] NM_182505 C9orf85 EXON Missense_R55H exm754829 9 74586461 [A/G] NM_182505 C9orf85 EXON Missense_I84V exm754835 9 74587631 [T/C] NM_182505 C9orf85 EXON Missense_I116T exm2266913 9 74637775 [A/G] exm-rs12380601 9 74648631 [A/G] exm754846 9 74671756 [A/G] NM_001128618 C9orf57 EXON Missense_L56P exm754853 9 74674202 [T/C] NM_001128618 C9orf57 EXON Missense_G38S exm754864 9 74764545 [T/C] NM_001242507,NM_001242505,NM_004293,NM_001242506 GDA,GDA,GDA,GDA EXON Silent,Missense_C24R,Missense_C24R,Silent exm754873 9 74817594 [T/C] NM_001242507,NM_001242505,NM_004293,NM_001242506 GDA,GDA,GDA,GDA EXON Missense_T33I,Missense_T107I,Missense_T107I,Missense_T33I exm754879 9 74828834 [G/C] NM_001242507,NM_001242505,NM_004293,NM_001242506 GDA,GDA,GDA,GDA EXON Missense_V95L,Missense_V169L,Missense_V169L,Missense_V95L exm754890 9 74838039 [T/G] NM_001242507,NM_001242505,NM_004293,NM_001242506 GDA,GDA,GDA,GDA EXON Missense_S130A,Missense_S204A,Missense_S204A,Missense_S130A exm754901 9 74840668 [A/G] NM_001242507,NM_001242505,NM_004293,NM_001242506 GDA,GDA,GDA,GDA EXON Missense_V190M,Missense_V264M,Missense_V264M,Missense_V190M exm754916 9 74846067 [A/C] NM_001242507,NM_001242505,NM_004293,NM_001242506 GDA,GDA,GDA,GDA EXON Missense_K246Q,Missense_K320Q,Missense_K320Q,Missense_K246Q exm2271088 9 74853935 [T/C] NM_001242507,NM_001242505,NM_004293,NM_001242506 GDA,GDA,GDA,GDA Silent,Silent,Silent,Silent exm2248278 9 74856202 [A/G] NM_001242507,NM_001242505,NM_004293,NM_001242506 GDA,GDA,GDA,GDA EXON Missense_G301R,Missense_G375R,Missense_G375R,Missense_G301R exm754929 9 74862326 [T/C] NM_001242507,NM_001242505,NM_004293,NM_001242506 GDA,GDA,GDA,GDA EXON Missense_V350A,Missense_V424A,Missense_V424A,Missense_V350A exm754935 9 74865703 [T/C] NM_001242507,NM_001242505,NM_004293,NM_001242506 GDA,GDA,GDA,GDA EXON Silent,Missense_P467S,Silent,Silent exm-rs11143230 9 74887703 [A/C] exm2264347 9 74956781 [A/C] exm754946 9 74975136 [T/C] NM_006007,NM_001102420,NM_001102421 ZFAND5,ZFAND5,ZFAND5 EXON Synonymous_G51G,Synonymous_G51G,Synonymous_G51G exm754964 9 75303654 [A/G] NM_138691 TMC1 EXON Missense_E16K exm754968 9 75309535 [A/T] NM_138691 TMC1 EXON Missense_D47E exm754969 9 75309539 [A/C] NM_138691 TMC1 EXON Missense_I49L exm754976 9 75315438 [A/G] NM_138691 TMC1 EXON Missense_E81K exm754979 9 75355093 [T/C] NM_138691 TMC1 EXON Missense_R141W exm754983 9 75357379 [A/G] NM_138691 TMC1 EXON Missense_R158H exm754985 9 75357408 [A/G] NM_138691 TMC1 EXON Missense_V168I exm754986 9 75366775 [A/G] NM_138691 TMC1 EXON Missense_G182D exm754994 9 75369762 [T/G] NM_138691 TMC1 EXON Missense_A235S exm755000 9 75387378 [A/G] NM_138691 TMC1 EXON Missense_R264Q exm755006 9 75403294 [G/C] NM_138691 TMC1 EXON Missense_D308E exm2198410 9 75406810 [A/G] NM_138691 TMC1 EXON Missense_M411I exm755028 9 75407159 [T/C] NM_138691 TMC1 EXON Missense_M486T exm2198417 9 75407236 [T/C] NM_138691 TMC1 EXON Nonsense_R512X exm755035 9 75420340 [A/G] NM_138691 TMC1 EXON Missense_V537I exm755042 9 75431068 [A/G] NM_138691 TMC1 EXON Missense_T569A exm755059 9 75445381 [A/T] NM_138691 TMC1 EXON Missense_Y715F exm755064 9 75445568 [T/C] NM_138691 TMC1 EXON Nonsense_R744X exm755065 9 75445583 [T/G] NM_138691 TMC1 EXON Missense_A749S exm755066 9 75445592 [T/C] NM_138691 TMC1 EXON Nonsense_R752X exm755086 9 75524540 [T/C] NM_000689 ALDH1A1 EXON Missense_A446T exm755117 9 75540493 [T/C] NM_000689 ALDH1A1 EXON Missense_I180M exm755119 9 75540504 [A/T] NM_000689 ALDH1A1 EXON Missense_I177F exm755125 9 75542080 [T/A] NM_000689 ALDH1A1 EXON Missense_F152L exm755130 9 75543837 [A/T] NM_000689 ALDH1A1 EXON Missense_D138V exm2198462 9 75543858 [T/C] NM_000689 ALDH1A1 EXON Missense_R131H exm755135 9 75543928 [A/T] NM_000689 ALDH1A1 EXON Missense_S108T exm2271089 9 75706106 [T/C] exm-rs3758354 9 75764565 [A/C] exm755153 9 75773610 [A/G] NM_000700 ANXA1 Silent exm755164 9 75774283 [T/C] NM_000700 ANXA1 EXON Nonsense_R72X exm755171 9 75777764 [T/C] NM_000700 ANXA1 EXON Missense_L181P exm755181 9 75780087 [A/C] NM_000700 ANXA1 EXON Missense_T223N exm755188 9 75782421 [A/G] NM_000700 ANXA1 EXON Missense_A271T exm755189 9 75782445 [T/G] NM_000700 ANXA1 EXON Missense_A279S exm755198 9 75784045 [A/G] NM_000700 ANXA1 EXON Missense_G320D exm2266914 9 75877116 [A/G] exm-rs11143609 9 76158682 [A/G] exm2266834 9 76184436 [A/G] exm2262675 9 76249152 [T/G] exm2259424 9 76696788 [T/G] exm-rs965897 9 77175017 [T/G] NM_006914 RORB Silent exm755221 9 77257500 [A/G] NM_006914 RORB EXON Missense_E136K exm755222 9 77257512 [A/G] NM_006914 RORB EXON Missense_T140A exm755231 9 77257707 [T/C] NM_006914 RORB EXON Missense_P205S exm2266835 9 77283889 [A/G] NM_006914 RORB Silent exm755278 9 77354770 [T/C] NM_001177310,NM_017662,NM_001177311 TRPM6,TRPM6,TRPM6 EXON Missense_V1781I,Missense_V1786I,Missense_V1781I exm755284 9 77354845 [A/G] NM_001177310,NM_017662,NM_001177311 TRPM6,TRPM6,TRPM6 EXON Missense_R1756C,Missense_R1761C,Missense_R1756C exm755287 9 77357506 [A/G] NM_001177310,NM_017662,NM_001177311 TRPM6,TRPM6,TRPM6 EXON Missense_T1719I,Missense_T1724I,Missense_T1719I exm2262677 9 77357968 [T/C] NM_001177310,NM_017662,NM_001177311 TRPM6,TRPM6,TRPM6 Silent,Silent,Silent exm755296 9 77367203 [T/C] NM_001177310,NM_017662,NM_001177311 TRPM6,TRPM6,TRPM6 EXON Missense_Q1658R,Missense_Q1663R,Missense_Q1658R exm755297 9 77370279 [A/C] NM_001177310,NM_017662,NM_001177311 TRPM6,TRPM6,TRPM6 EXON Missense_F1627L,Missense_F1632L,Missense_F1627L exm755303 9 77376647 [T/C] NM_001177310,NM_017662,NM_001177311 TRPM6,TRPM6,TRPM6 EXON Missense_K1579E,Missense_K1584E,Missense_K1579E exm755312 9 77376995 [T/C] NM_001177310,NM_017662,NM_001177311 TRPM6,TRPM6,TRPM6 EXON Missense_R1526H,Missense_R1531H,Missense_R1526H exm755313 9 77376996 [A/G] NM_001177310,NM_017662,NM_001177311 TRPM6,TRPM6,TRPM6 EXON Missense_R1526C,Missense_R1531C,Missense_R1526C exm755325 9 77377365 [T/C] NM_001177310,NM_017662,NM_001177311 TRPM6,TRPM6,TRPM6 EXON Missense_E1403K,Missense_E1408K,Missense_E1403K exm755328 9 77377410 [T/C] NM_001177310,NM_017662,NM_001177311 TRPM6,TRPM6,TRPM6 EXON Missense_V1388I,Missense_V1393I,Missense_V1388I exm755337 9 77377724 [T/C] NM_001177310,NM_017662,NM_001177311 TRPM6,TRPM6,TRPM6 EXON Missense_G1283E,Missense_G1288E,Missense_G1283E exm755338 9 77377766 [T/C] NM_001177310,NM_017662,NM_001177311 TRPM6,TRPM6,TRPM6 EXON Missense_Q1269R,Missense_Q1274R,Missense_Q1269R exm755348 9 77386669 [T/C] NM_001177310,NM_017662,NM_001177311 TRPM6,TRPM6,TRPM6 EXON Missense_M1157I,Missense_M1162I,Missense_M1157I exm755353 9 77390913 [T/C] NM_001177310,NM_017662,NM_001177311 TRPM6,TRPM6,TRPM6 EXON Missense_E1092K,Missense_E1097K,Missense_E1092K exm755358 9 77390991 [T/C] NM_001177310,NM_017662,NM_001177311 TRPM6,TRPM6,TRPM6 EXON Missense_N1066D,Missense_N1071D,Missense_N1066D exm755373 9 77397769 [T/C] NM_001177310,NM_017662,NM_001177311 TRPM6,TRPM6,TRPM6 EXON Missense_T969A,Missense_T974A,Missense_T969A exm755374 9 77400791 [A/G] NM_001177310,NM_017662,NM_001177311 TRPM6,TRPM6,TRPM6 EXON Missense_M968T,Missense_M973T,Missense_M968T exm755376 9 77400855 [A/G] NM_001177310,NM_017662,NM_001177311 TRPM6,TRPM6,TRPM6 EXON Missense_R947W,Missense_R952W,Missense_R947W exm755380 9 77400933 [T/C] NM_001177310,NM_017662,NM_001177311 TRPM6,TRPM6,TRPM6 EXON Missense_V921I,Missense_V926I,Missense_V921I exm755382 9 77400938 [C/G] NM_001177310,NM_017662,NM_001177311 TRPM6,TRPM6,TRPM6 EXON Missense_G919A,Missense_G924A,Missense_G919A exm755387 9 77403574 [A/C] NM_001177310,NM_017662,NM_001177311 TRPM6,TRPM6,TRPM6 EXON Missense_V870F,Missense_V875F,Missense_V870F exm755396 9 77411686 [T/C] NM_001177310,NM_017662,NM_001177311 TRPM6,TRPM6,TRPM6 EXON Missense_A783T,Missense_A788T,Missense_A783T exm755400 9 77411712 [A/T] NM_001177310,NM_017662,NM_001177311 TRPM6,TRPM6,TRPM6 EXON Missense_F774Y,Missense_F779Y,Missense_F774Y exm755401 9 77411729 [C/G] NM_001177310,NM_017662,NM_001177311 TRPM6,TRPM6,TRPM6 EXON Missense_Q768H,Missense_Q773H,Missense_Q768H exm755419 9 77418719 [T/G] NM_001177310,NM_017662,NM_001177311 TRPM6,TRPM6,TRPM6 EXON Nonsense_Y569X,Nonsense_Y574X,Nonsense_Y569X exm755423 9 77418802 [A/G] NM_001177310,NM_017662,NM_001177311 TRPM6,TRPM6,TRPM6 EXON Missense_H542Y,Missense_H547Y,Missense_H542Y exm755424 9 77422957 [T/C] NM_001177310,NM_017662,NM_001177311 TRPM6,TRPM6,TRPM6 EXON Missense_K539R,Missense_K544R,Missense_K539R exm2259427 9 77425764 [T/C] NM_001177310,NM_017662,NM_001177311 TRPM6,TRPM6,TRPM6 EXON Synonymous_T483T,Synonymous_T488T,Synonymous_T483T exm755433 9 77425778 [T/C] NM_001177310,NM_017662,NM_001177311 TRPM6,TRPM6,TRPM6 EXON Missense_G479R,Missense_G484R,Missense_G479R exm755437 9 77427237 [T/C] NM_001177310,NM_017662,NM_001177311 TRPM6,TRPM6,TRPM6 EXON Missense_R469Q,Missense_R474Q,Missense_R469Q exm2198604 9 77435221 [A/C] NM_001177310,NM_017662,NM_001177311 TRPM6,TRPM6,TRPM6 EXON Missense_C373F,Missense_C378F,Missense_C373F exm755447 9 77435253 [T/G] NM_001177310,NM_017662,NM_001177311 TRPM6,TRPM6,TRPM6 EXON Missense_Q362H,Missense_Q367H,Missense_Q362H exm755451 9 77435340 [A/C] NM_001177310,NM_017662,NM_001177311 TRPM6,TRPM6,TRPM6 EXON Missense_M333I,Missense_M338I,Missense_M333I exm755457 9 77436643 [T/C] NM_001177310,NM_017662,NM_001177311 TRPM6,TRPM6,TRPM6 EXON Missense_G313S,Missense_G318S,Missense_G313S exm755473 9 77454969 [A/G] NM_001177310,NM_017662,NM_001177311 TRPM6,TRPM6,TRPM6 EXON Missense_A167V,Missense_A172V,Missense_A167V exm755474 9 77454973 [T/C] NM_001177310,NM_017662,NM_001177311 TRPM6,TRPM6,TRPM6 EXON Missense_G166R,Missense_G171R,Missense_G166R exm755475 9 77454985 [A/C] NM_001177310,NM_017662,NM_001177311 TRPM6,TRPM6,TRPM6 EXON Missense_A162S,Missense_A167S,Missense_A162S exm755480 9 77457144 [T/A] NM_001177310,NM_017662,NM_001177311 TRPM6,TRPM6,TRPM6 EXON Missense_S85C,Missense_S90C,Missense_S85C exm755527 9 77614689 [A/G] NM_152420 C9orf41 EXON Missense_W230R exm755545 9 77643079 [T/C] NM_152420 C9orf41 EXON Missense_E27K exm755567 9 77683924 [T/G] NR_023352,NM_017881,NM_001127603 NMRK1,NMRK1,NMRK1 EXON Silent,Missense_T162P,Missense_T138P exm755568 9 77683986 [T/C] NR_023352,NM_017881,NM_001127603 NMRK1,NMRK1,NMRK1 EXON Silent,Missense_G141E,Missense_G117E exm755570 9 77683989 [A/G] NR_023352,NM_017881,NM_001127603 NMRK1,NMRK1,NMRK1 EXON Silent,Missense_P140L,Missense_P116L exm755577 9 77684824 [C/G] NR_023352,NM_017881,NM_001127603 NMRK1,NMRK1,NMRK1 EXON Silent,Missense_L102V,Missense_L102V exm755579 9 77684860 [C/G] NR_023352,NM_017881,NM_001127603 NMRK1,NMRK1,NMRK1 EXON Silent,Missense_E90Q,Missense_E90Q exm755581 9 77684899 [T/C] NR_023352,NM_017881,NM_001127603 NMRK1,NMRK1,NMRK1 EXON Silent,Missense_A77T,Missense_A77T exm755582 9 77684909 [T/C] NR_023352,NM_017881,NM_001127603 NMRK1,NMRK1,NMRK1 EXON Silent,Nonsense_W73X,Nonsense_W73X exm755622 9 77752523 [C/G] NM_012383 OSTF1 EXON Missense_L160V exm2276054 9 77761637 [A/G] NM_012383 OSTF1 EXON Missense_D209N exm2259428 9 77848630 [A/G] exm2262678 9 78061301 [T/G] exm-rs10512049 9 78276675 [T/C] NR_031679 MIR548H3 Silent exm-rs12344488 9 78425925 [A/G] exm2259429 9 78485374 [A/G] exm-rs11144688 9 78542286 [A/G] NM_006200,NM_001190482 PCSK5,PCSK5 Silent,Silent exm755651 9 78547338 [T/C] NM_006200,NM_001190482 PCSK5,PCSK5 EXON Missense_T79M,Missense_T79M exm755660 9 78638797 [T/C] NM_006200,NM_001190482 PCSK5,PCSK5 EXON Synonymous_Y185Y,Synonymous_Y185Y exm2259431 9 78724005 [T/G] NM_006200,NM_001190482 PCSK5,PCSK5 Silent,Silent exm755714 9 78773925 [A/G] NM_006200,NM_001190482 PCSK5,PCSK5 EXON Missense_R486H,Missense_R486H exm755727 9 78784693 [A/G] NM_006200,NM_001190482 PCSK5,PCSK5 EXON Missense_A565T,Missense_A565T exm755732 9 78790001 [A/G] NM_006200,NM_001190482 PCSK5,PCSK5 EXON Missense_R619Q,Missense_R619Q exm755773 9 78803535 [A/G] NM_006200,NM_001190482 PCSK5,PCSK5 EXON Missense_R775Q,Missense_R775Q exm755779 9 78804093 [T/C] NM_006200,NM_001190482 PCSK5,PCSK5 EXON Missense_Y822H,Missense_Y822H exm755782 9 78804567 [T/C] NM_006200,NM_001190482 PCSK5,PCSK5 EXON Missense_T844M,Missense_T844M exm755792 9 78808173 [A/G] NM_006200,NM_001190482 PCSK5,PCSK5 EXON Missense_E883K,Silent exm2259432 9 78853882 [T/C] NM_001190482 PCSK5 EXON Synonymous_Y958Y exm755814 9 78853916 [C/G] NM_001190482 PCSK5 EXON Missense_G970R exm755818 9 78854046 [A/C] NM_001190482 PCSK5 EXON Missense_T1013N exm-rs2842483 9 78906150 [A/G] NM_001190482 PCSK5 Silent exm755821 9 78907151 [A/G] NM_001190482 PCSK5 EXON Missense_D1049N exm755824 9 78907175 [A/G] NM_001190482 PCSK5 EXON Missense_A1057T exm755826 9 78910241 [A/C] NM_001190482 PCSK5 EXON Missense_E1079A exm755827 9 78910273 [A/G] NM_001190482 PCSK5 EXON Missense_G1090S exm755843 9 78923638 [T/C] NM_001190482 PCSK5 EXON Missense_P1201S exm755845 9 78925584 [T/C] NM_001190482 PCSK5 EXON Missense_L1207P exm755852 9 78936357 [A/G] NM_001190482 PCSK5 EXON Missense_G1275S exm755853 9 78936358 [A/G] NM_001190482 PCSK5 EXON Missense_G1275D exm755856 9 78936492 [A/G] NM_001190482 PCSK5 EXON Missense_K1320E exm755857 9 78936493 [A/G] NM_001190482 PCSK5 EXON Missense_K1320R exm755861 9 78937974 [T/C] NM_001190482 PCSK5 EXON Missense_T1343M exm755864 9 78938043 [A/G] NM_001190482 PCSK5 EXON Missense_R1366H exm755872 9 78938186 [G/C] NM_001190482 PCSK5 EXON Missense_E1414Q exm755875 9 78942946 [T/C] NM_001190482 PCSK5 EXON Missense_T1427I exm755882 9 78943039 [T/C] NM_001190482 PCSK5 EXON Missense_S1458F exm755885 9 78943138 [T/G] NM_001190482 PCSK5 EXON Missense_M1491R exm755889 9 78947461 [G/C] NM_001190482 PCSK5 EXON Missense_Q1534H exm755891 9 78947501 [A/G] NM_001190482 PCSK5 EXON Missense_E1548K exm755895 9 78953153 [A/G] NM_001190482 PCSK5 EXON Missense_A1559T exm-rs10869758 9 78965376 [T/C] NM_001190482 PCSK5 Silent exm755902 9 78965816 [A/G] NM_001190482 PCSK5 EXON Missense_C1653Y exm755906 9 78969059 [A/C] NM_001190482 PCSK5 EXON Missense_D1699E exm755910 9 78973431 [A/G] NM_001190482 PCSK5 EXON Missense_E1726K exm755911 9 78973444 [A/G] NM_001190482 PCSK5 EXON Missense_R1730Q exm755914 9 78973494 [T/A] NM_001190482 PCSK5 EXON Missense_I1747F exm755931 9 79007336 [T/C] NM_018339 RFK EXON Missense_M78V exm2259433 9 79117312 [A/G] NM_001097634,NM_001490,NM_001097633,NM_001097635,NM_001097636 GCNT1,GCNT1,GCNT1,GCNT1,GCNT1 EXON Synonymous_L5L,Synonymous_L5L,Synonymous_L5L,Synonymous_L5L,Synonymous_L5L exm755951 9 79117312 [A/G] NM_001097634,NM_001490,NM_001097633,NM_001097635,NM_001097636 GCNT1,GCNT1,GCNT1,GCNT1,GCNT1 EXON Synonymous_L5L,Synonymous_L5L,Synonymous_L5L,Synonymous_L5L,Synonymous_L5L exm2198791 9 79117391 [T/A] NM_001097634,NM_001490,NM_001097633,NM_001097635,NM_001097636 GCNT1,GCNT1,GCNT1,GCNT1,GCNT1 EXON Missense_L32I,Missense_L32I,Missense_L32I,Missense_L32I,Missense_L32I exm755957 9 79117542 [T/A] NM_001097634,NM_001490,NM_001097633,NM_001097635,NM_001097636 GCNT1,GCNT1,GCNT1,GCNT1,GCNT1 EXON Missense_F82Y,Missense_F82Y,Missense_F82Y,Missense_F82Y,Missense_F82Y exm755959 9 79117556 [T/C] NM_001097634,NM_001490,NM_001097633,NM_001097635,NM_001097636 GCNT1,GCNT1,GCNT1,GCNT1,GCNT1 EXON Missense_R87W,Missense_R87W,Missense_R87W,Missense_R87W,Missense_R87W exm755963 9 79117653 [A/C] NM_001097634,NM_001490,NM_001097633,NM_001097635,NM_001097636 GCNT1,GCNT1,GCNT1,GCNT1,GCNT1 EXON Missense_A119E,Missense_A119E,Missense_A119E,Missense_A119E,Missense_A119E exm755967 9 79117751 [A/G] NM_001097634,NM_001490,NM_001097633,NM_001097635,NM_001097636 GCNT1,GCNT1,GCNT1,GCNT1,GCNT1 EXON Missense_I152V,Missense_I152V,Missense_I152V,Missense_I152V,Missense_I152V exm755968 9 79117770 [C/G] NM_001097634,NM_001490,NM_001097633,NM_001097635,NM_001097636 GCNT1,GCNT1,GCNT1,GCNT1,GCNT1 EXON Missense_S158C,Missense_S158C,Missense_S158C,Missense_S158C,Missense_S158C exm755969 9 79117802 [A/G] NM_001097634,NM_001490,NM_001097633,NM_001097635,NM_001097636 GCNT1,GCNT1,GCNT1,GCNT1,GCNT1 EXON Missense_I169V,Missense_I169V,Missense_I169V,Missense_I169V,Missense_I169V exm755972 9 79117871 [T/C] NM_001097634,NM_001490,NM_001097633,NM_001097635,NM_001097636 GCNT1,GCNT1,GCNT1,GCNT1,GCNT1 EXON Missense_R192W,Missense_R192W,Missense_R192W,Missense_R192W,Missense_R192W exm755991 9 79118400 [T/C] NM_001097634,NM_001490,NM_001097633,NM_001097635,NM_001097636 GCNT1,GCNT1,GCNT1,GCNT1,GCNT1 EXON Missense_P368L,Missense_P368L,Missense_P368L,Missense_P368L,Missense_P368L exm755993 9 79118475 [A/G] NM_001097634,NM_001490,NM_001097633,NM_001097635,NM_001097636 GCNT1,GCNT1,GCNT1,GCNT1,GCNT1 EXON Missense_R393H,Missense_R393H,Missense_R393H,Missense_R393H,Missense_R393H exm756007 9 79244174 [T/C] NM_015225 PRUNE2 EXON Missense_N3028S exm756021 9 79259672 [A/C] NM_015225 PRUNE2 EXON Missense_R2904I exm756030 9 79267561 [A/G] NM_015225 PRUNE2 EXON Missense_R2799W exm756032 9 79270368 [A/G] NM_015225 PRUNE2 EXON Missense_L2776P exm2262679 9 79300111 [T/G] NM_015225 PRUNE2 Silent exm756038 9 79318313 [A/G] NM_015225 PRUNE2 EXON Missense_T2739M exm756040 9 79318320 [A/G] NM_015225 PRUNE2 EXON Missense_P2737S exm756042 9 79318367 [T/C] NM_015225 PRUNE2 EXON Missense_N2721S exm756059 9 79318677 [T/C] NM_015225 PRUNE2 EXON Missense_S2618G exm756064 9 79318812 [T/C] NM_015225 PRUNE2 EXON Missense_A2573T exm756065 9 79318820 [T/G] NM_015225 PRUNE2 EXON Missense_E2570A exm756066 9 79318824 [T/C] NM_015225 PRUNE2 EXON Missense_R2569G exm756068 9 79318866 [T/G] NM_015225 PRUNE2 EXON Missense_R2555S exm756075 9 79318971 [A/G] NM_015225 PRUNE2 EXON Missense_P2520S exm756078 9 79318995 [T/C] NM_015225 PRUNE2 EXON Missense_E2512K exm756079 9 79318998 [A/G] NM_015225 PRUNE2 EXON Missense_S2511P exm756083 9 79319711 [A/C] NM_015225 PRUNE2 EXON Missense_D2493E exm756088 9 79319799 [A/G] NM_015225 PRUNE2 EXON Missense_P2464L exm756089 9 79319809 [A/G] NM_015225 PRUNE2 EXON Missense_R2461C exm756090 9 79319874 [A/C] NM_015225 PRUNE2 EXON Missense_S2439I exm756095 9 79319972 [A/C] NM_015225 PRUNE2 EXON Missense_Q2406H exm756096 9 79320000 [T/C] NM_015225 PRUNE2 EXON Missense_D2397G exm756099 9 79320095 [T/G] NM_015225 PRUNE2 EXON Missense_L2365F exm756104 9 79320159 [A/G] NM_015225 PRUNE2 EXON Missense_S2344L exm756105 9 79320164 [G/C] NM_015225 PRUNE2 EXON Missense_I2342M exm2248296 9 79320252 [A/G] NM_015225 PRUNE2 EXON Missense_T2313M exm756113 9 79320393 [A/G] NM_015225 PRUNE2 EXON Missense_L2266S exm756115 9 79320439 [T/G] NM_015225 PRUNE2 EXON Missense_I2251L exm756120 9 79320640 [T/C] NM_015225 PRUNE2 EXON Missense_A2184T exm756128 9 79320768 [A/G] NM_015225 PRUNE2 EXON Missense_I2141T exm756129 9 79320823 [T/C] NM_015225 PRUNE2 EXON Missense_A2123T exm756130 9 79320847 [C/G] NM_015225 PRUNE2 EXON Missense_Q2115E exm756144 9 79320991 [T/C] NM_015225 PRUNE2 EXON Missense_A2067T exm756146 9 79321029 [T/C] NM_015225 PRUNE2 EXON Missense_H2054R exm756147 9 79321038 [T/C] NM_015225 PRUNE2 EXON Missense_D2051G exm2259434 9 79321097 [T/C] NM_015225 PRUNE2 EXON Synonymous_P2031P exm756158 9 79321261 [T/C] NM_015225 PRUNE2 EXON Missense_A1977T exm756159 9 79321276 [T/C] NM_015225 PRUNE2 EXON Missense_T1972A exm756163 9 79321353 [T/C] NM_015225 PRUNE2 EXON Missense_G1946D exm756164 9 79321371 [A/G] NM_015225 PRUNE2 EXON Missense_T1940I exm756165 9 79321387 [A/C] NM_015225 PRUNE2 EXON Missense_D1935Y exm756169 9 79321555 [T/C] NM_015225 PRUNE2 EXON Missense_V1879M exm756176 9 79321690 [A/G] NM_015225 PRUNE2 EXON Missense_P1834S exm756177 9 79321702 [A/G] NM_015225 PRUNE2 EXON Missense_W1830R exm756179 9 79321735 [T/C] NM_015225 PRUNE2 EXON Missense_M1819V exm756186 9 79322068 [T/G] NM_015225 PRUNE2 EXON Missense_H1708N exm756190 9 79322110 [A/C] NM_015225 PRUNE2 EXON Missense_G1694C exm756201 9 79322353 [T/C] NM_015225 PRUNE2 EXON Missense_S1613G exm756205 9 79322539 [T/C] NM_015225 PRUNE2 EXON Missense_N1551D exm756214 9 79322674 [A/G] NM_015225 PRUNE2 EXON Missense_C1506R exm756218 9 79322710 [T/C] NM_015225 PRUNE2 EXON Missense_V1494I exm756222 9 79322761 [T/C] NM_015225 PRUNE2 EXON Missense_V1477M exm756225 9 79322921 [T/G] NM_015225 PRUNE2 EXON Missense_N1423K exm756232 9 79323154 [T/C] NM_015225 PRUNE2 EXON Missense_A1346T exm756235 9 79323348 [A/G] NM_015225 PRUNE2 EXON Missense_S1281F exm756238 9 79323390 [A/G] NM_015225 PRUNE2 EXON Missense_A1267V exm756245 9 79323702 [A/G] NM_015225 PRUNE2 EXON Missense_P1163L exm756257 9 79323891 [T/C] NM_015225 PRUNE2 EXON Missense_S1100N exm2248298 9 79323948 [T/C] NM_015225 PRUNE2 EXON Missense_D1081G exm756272 9 79324179 [A/G] NM_015225 PRUNE2 EXON Missense_T1004M exm756274 9 79324221 [A/G] NM_015225 PRUNE2 EXON Missense_F990S exm756275 9 79324246 [T/C] NM_015225 PRUNE2 EXON Missense_E982K exm756277 9 79324348 [T/C] NM_015225 PRUNE2 EXON Missense_D948N exm756279 9 79324356 [T/C] NM_015225 PRUNE2 EXON Missense_K945R exm756281 9 79324405 [T/C] NM_015225 PRUNE2 EXON Missense_G929R exm756282 9 79324408 [T/C] NM_015225 PRUNE2 EXON Missense_K928E exm756286 9 79324536 [T/C] NM_015225 PRUNE2 EXON Missense_D885G exm756287 9 79324542 [A/C] NM_015225 PRUNE2 EXON Missense_S883I exm756292 9 79324741 [T/C] NM_015225 PRUNE2 EXON Missense_N817D exm2198866 9 79324746 [A/G] NM_015225 PRUNE2 EXON Missense_T815I exm756301 9 79324955 [T/C] NM_015225 PRUNE2 EXON Missense_M745I exm756302 9 79325065 [T/C] NM_015225 PRUNE2 EXON Missense_E709K exm756307 9 79325200 [A/G] NM_015225 PRUNE2 EXON Missense_S664P exm756310 9 79325299 [T/C] NM_015225 PRUNE2 EXON Missense_T631A exm756318 9 79325562 [T/C] NM_015225 PRUNE2 EXON Missense_G543E exm756319 9 79325571 [T/G] NM_015225 PRUNE2 EXON Missense_D540A exm756329 9 79325836 [T/C] NM_015225 PRUNE2 EXON Missense_V452M exm2259435 9 79325894 [T/G] NM_015225 PRUNE2 EXON Synonymous_T432T exm756335 9 79325961 [T/C] NM_015225 PRUNE2 EXON Missense_N410S exm756338 9 79326058 [C/G] NM_015225 PRUNE2 EXON Missense_L378V exm756340 9 79326076 [T/C] NM_015225 PRUNE2 EXON Missense_V372M exm-rs10781380 9 79408144 [T/C] NM_015225 PRUNE2 Silent exm756366 9 79438584 [T/C] NM_015225 PRUNE2 EXON Missense_I240M exm756375 9 79441579 [G/C] NM_015225 PRUNE2 EXON Missense_S193C exm756377 9 79441650 [T/C] NM_015225 PRUNE2 Silent exm756379 9 79461440 [G/C] NM_015225 PRUNE2 EXON Missense_R167G exm756386 9 79465455 [T/C] NM_015225 PRUNE2 EXON Missense_D90N exm756396 9 79469096 [A/T] NM_015225 PRUNE2 EXON Missense_H22L exm2264348 9 79582862 [A/C] exm756409 9 79634693 [T/G] NM_001013735 FOXB2 EXON Missense_K41N exm756425 9 79635085 [T/C] NM_001013735 FOXB2 EXON Missense_P172L exm2248302 9 79635474 [A/G] NM_001013735 FOXB2 EXON Missense_V302M exm756447 9 79635645 [G/C] NM_001013735 FOXB2 EXON Missense_L359V exm756474 9 79824351 [T/C] NM_033305,NM_001018037,NM_001018038,NM_015186 VPS13A,VPS13A,VPS13A,VPS13A EXON Missense_P133L,Missense_P133L,Missense_P133L,Missense_P133L exm756476 9 79825541 [T/C] NM_033305,NM_001018037,NM_001018038,NM_015186 VPS13A,VPS13A,VPS13A,VPS13A EXON Missense_R169W,Missense_R169W,Missense_R169W,Missense_R169W exm756481 9 79827894 [T/C] NM_033305,NM_001018037,NM_001018038,NM_015186 VPS13A,VPS13A,VPS13A,VPS13A EXON Nonsense_Q189X,Nonsense_Q189X,Nonsense_Q189X,Nonsense_Q189X exm756487 9 79829278 [A/G] NM_033305,NM_001018037,NM_001018038,NM_015186 VPS13A,VPS13A,VPS13A,VPS13A EXON Missense_I244V,Missense_I244V,Missense_I244V,Missense_I244V exm756495 9 79835281 [A/G] NM_033305,NM_001018037,NM_001018038,NM_015186 VPS13A,VPS13A,VPS13A,VPS13A EXON Missense_H324R,Missense_H324R,Missense_H324R,Missense_H324R exm756510 9 79841487 [C/G] NM_033305,NM_001018037,NM_001018038,NM_015186 VPS13A,VPS13A,VPS13A,VPS13A EXON Missense_E444Q,Missense_E444Q,Missense_E444Q,Missense_E444Q exm756511 9 79841497 [T/C] NM_033305,NM_001018037,NM_001018038,NM_015186 VPS13A,VPS13A,VPS13A,VPS13A EXON Missense_P447L,Missense_P447L,Missense_P447L,Missense_P447L exm756526 9 79853248 [T/C] NM_033305,NM_001018037,NM_001018038,NM_015186 VPS13A,VPS13A,VPS13A,VPS13A EXON Missense_L616F,Missense_L616F,Missense_L616F,Missense_L616F exm756537 9 79867181 [A/G] NM_033305,NM_001018037,NM_001018038,NM_015186 VPS13A,VPS13A,VPS13A,VPS13A EXON Missense_S734N,Missense_S734N,Missense_S734N,Missense_S734N exm756559 9 79890990 [A/G] NM_033305,NM_001018037,NM_001018038,NM_015186 VPS13A,VPS13A,VPS13A,VPS13A EXON Missense_E893K,Missense_E893K,Missense_E893K,Missense_E893K exm756561 9 79891006 [T/C] NM_033305,NM_001018037,NM_001018038,NM_015186 VPS13A,VPS13A,VPS13A,VPS13A EXON Missense_V898A,Missense_V898A,Missense_V898A,Missense_V898A exm756580 9 79897155 [A/G] NM_033305,NM_001018037,NM_001018038,NM_015186 VPS13A,VPS13A,VPS13A,VPS13A EXON Missense_E1028G,Missense_E1028G,Missense_E1028G,Missense_E1028G exm756590 9 79908273 [A/G] NM_033305,NM_001018037,NM_001018038,NM_015186 VPS13A,VPS13A,VPS13A,VPS13A EXON Missense_G1119E,Missense_G1080E,Missense_G1119E,Missense_G1119E exm756612 9 79917836 [A/G] NM_033305,NM_001018037,NM_001018038,NM_015186 VPS13A,VPS13A,VPS13A,VPS13A EXON Missense_R1273Q,Missense_R1234Q,Missense_R1273Q,Missense_R1273Q exm756615 9 79917953 [T/C] NM_033305,NM_001018037,NM_001018038,NM_015186 VPS13A,VPS13A,VPS13A,VPS13A EXON Missense_V1312A,Missense_V1273A,Missense_V1312A,Missense_V1312A exm756619 9 79922907 [T/A] NM_033305,NM_001018037,NM_001018038,NM_015186 VPS13A,VPS13A,VPS13A,VPS13A EXON Missense_H1336L,Missense_H1297L,Missense_H1336L,Missense_H1336L exm756627 9 79929004 [T/C] NM_033305,NM_001018037,NM_001018038,NM_015186 VPS13A,VPS13A,VPS13A,VPS13A EXON Missense_T1404I,Missense_T1365I,Missense_T1404I,Missense_T1404I exm756632 9 79930225 [A/G] NM_033305,NM_001018037,NM_001018038,NM_015186 VPS13A,VPS13A,VPS13A,VPS13A EXON Missense_R1490K,Missense_R1451K,Missense_R1490K,Missense_R1490K exm756639 9 79930342 [G/C] NM_033305,NM_001018037,NM_001018038,NM_015186 VPS13A,VPS13A,VPS13A,VPS13A EXON Missense_T1529S,Missense_T1490S,Missense_T1529S,Missense_T1529S exm756642 9 79931101 [A/G] NM_033305,NM_001018037,NM_001018038,NM_015186 VPS13A,VPS13A,VPS13A,VPS13A EXON Missense_E1548K,Missense_E1509K,Missense_E1548K,Missense_E1548K exm756645 9 79931219 [A/G] NM_033305,NM_001018037,NM_001018038,NM_015186 VPS13A,VPS13A,VPS13A,VPS13A EXON Missense_Y1587C,Missense_Y1548C,Missense_Y1587C,Missense_Y1587C exm2199000 9 79932585 [A/G] NM_033305,NM_001018037,NM_001018038,NM_015186 VPS13A,VPS13A,VPS13A,VPS13A EXON Missense_D1643N,Missense_D1604N,Missense_D1643N,Missense_D1643N exm756658 9 79933280 [A/G] NM_033305,NM_001018037,NM_001018038,NM_015186 VPS13A,VPS13A,VPS13A,VPS13A EXON Missense_K1696E,Missense_K1657E,Missense_K1696E,Missense_K1696E exm756664 9 79933379 [A/G] NM_033305,NM_001018037,NM_001018038,NM_015186 VPS13A,VPS13A,VPS13A,VPS13A EXON Missense_I1729V,Missense_I1690V,Missense_I1729V,Missense_I1729V exm756677 9 79936140 [A/G] NM_033305,NM_001018037,NM_001018038,NM_015186 VPS13A,VPS13A,VPS13A,VPS13A EXON Missense_Y1824C,Missense_Y1785C,Missense_Y1824C,Missense_Y1824C exm2199017 9 79936426 [T/C] NM_033305,NM_001018037,NM_001018038,NM_015186 VPS13A,VPS13A,VPS13A,VPS13A EXON Missense_T1865I,Missense_T1826I,Missense_T1865I,Missense_T1865I exm2199018 9 79936495 [T/G] NM_033305,NM_001018037,NM_001018038,NM_015186 VPS13A,VPS13A,VPS13A,VPS13A EXON Missense_I1888S,Missense_I1849S,Missense_I1888S,Missense_I1888S exm2259439 9 79936557 [T/C] NM_033305,NM_001018037,NM_001018038,NM_015186 VPS13A,VPS13A,VPS13A,VPS13A EXON Synonymous_L1909L,Synonymous_L1870L,Synonymous_L1909L,Synonymous_L1909L exm756687 9 79936557 [T/C] NM_033305,NM_001018037,NM_001018038,NM_015186 VPS13A,VPS13A,VPS13A,VPS13A EXON Synonymous_L1909L,Synonymous_L1870L,Synonymous_L1909L,Synonymous_L1909L exm756688 9 79936579 [A/G] NM_033305,NM_001018037,NM_001018038,NM_015186 VPS13A,VPS13A,VPS13A,VPS13A EXON Missense_S1916N,Missense_S1877N,Missense_S1916N,Missense_S1916N exm756694 9 79938036 [T/C] NM_033305,NM_001018037,NM_001018038,NM_015186 VPS13A,VPS13A,VPS13A,VPS13A EXON Missense_R1962C,Missense_R1923C,Missense_R1962C,Missense_R1962C exm756695 9 79938069 [A/G] NM_033305,NM_001018037,NM_001018038,NM_015186 VPS13A,VPS13A,VPS13A,VPS13A EXON Missense_V1973I,Missense_V1934I,Missense_V1973I,Missense_V1973I exm756715 9 79954463 [A/G] NM_033305,NM_001018037,NM_001018038,NM_015186 VPS13A,VPS13A,VPS13A,VPS13A EXON Missense_E2137G,Missense_E2098G,Missense_E2137G,Missense_E2137G exm756720 9 79954594 [A/G] NM_033305,NM_001018037,NM_001018038,NM_015186 VPS13A,VPS13A,VPS13A,VPS13A EXON Missense_V2181I,Missense_V2142I,Missense_V2181I,Missense_V2181I exm2199032 9 79955345 [A/G] NM_033305,NM_001018037,NM_001018038,NM_015186 VPS13A,VPS13A,VPS13A,VPS13A EXON Missense_S2302N,Missense_S2263N,Missense_S2302N,Missense_S2302N exm756740 9 79959138 [T/C] NM_033305,NM_001018037,NM_001018038,NM_015186 VPS13A,VPS13A,VPS13A,VPS13A EXON Missense_P2366S,Missense_P2327S,Missense_P2366S,Missense_P2366S exm756744 9 79959197 [A/G] NM_033305,NM_001018037,NM_001018038,NM_015186 VPS13A,VPS13A,VPS13A,VPS13A EXON Synonymous_E2385E,Synonymous_E2346E,Synonymous_E2385E,Synonymous_E2385E exm756759 9 79968361 [A/G] NM_033305,NM_001018037,NM_001018038,NM_015186 VPS13A,VPS13A,VPS13A,VPS13A EXON Missense_I2486V,Missense_I2447V,Missense_I2486V,Missense_I2486V exm756767 9 79971692 [A/G] NM_033305,NM_001018037,NM_001018038,NM_015186 VPS13A,VPS13A,VPS13A,VPS13A EXON Missense_K2572R,Missense_K2533R,Missense_K2572R,Missense_K2572R exm756774 9 79972654 [A/G] NM_033305,NM_001018037,NM_001018038,NM_015186 VPS13A,VPS13A,VPS13A,VPS13A EXON Missense_H2618R,Missense_H2579R,Missense_H2618R,Missense_H2618R exm756776 9 79972706 [C/G] NM_033305,NM_001018037,NM_001018038,NM_015186 VPS13A,VPS13A,VPS13A,VPS13A EXON Missense_N2635K,Missense_N2596K,Missense_N2635K,Missense_N2635K exm756779 9 79973335 [C/G] NM_033305,NM_001018037,NM_001018038,NM_015186 VPS13A,VPS13A,VPS13A,VPS13A EXON Missense_K2672N,Missense_K2633N,Missense_K2672N,Missense_K2672N exm756787 9 79980389 [A/G] NM_033305,NM_001018037,NM_001018038,NM_015186 VPS13A,VPS13A,VPS13A,VPS13A EXON Missense_H2742R,Missense_H2703R,Missense_H2742R,Missense_H2742R exm756788 9 79980392 [A/C] NM_033305,NM_001018037,NM_001018038,NM_015186 VPS13A,VPS13A,VPS13A,VPS13A EXON Missense_K2743T,Missense_K2704T,Missense_K2743T,Missense_K2743T exm2259440 9 79985181 [T/C] NM_033305,NM_001018037,NM_001018038,NM_015186 VPS13A,VPS13A,VPS13A,VPS13A EXON Synonymous_I2892I,Synonymous_I2853I,Synonymous_I2892I,Synonymous_I2892I exm756822 9 79985830 [A/G] NM_033305,NM_001018037,NM_001018038,NM_015186 VPS13A,VPS13A,VPS13A,VPS13A EXON Missense_I2978V,Missense_I2939V,Missense_I2978V,Missense_I2978V exm756825 9 79986025 [A/G] NM_033305,NM_001018037,NM_001018038,NM_015186 VPS13A,VPS13A,VPS13A,VPS13A EXON Missense_I3013V,Missense_I2974V,Missense_I3013V,Missense_I3013V exm756829 9 79996923 [T/C] NM_033305,NM_001018037,NM_001018038,NM_015186 VPS13A,VPS13A,VPS13A,VPS13A EXON Nonsense_R3037X,Nonsense_R2998X,Nonsense_R3037X,Nonsense_R3037X exm756830 9 79996933 [A/G] NM_033305,NM_001018037,NM_001018038,NM_015186 VPS13A,VPS13A,VPS13A,VPS13A EXON Missense_R3040Q,Missense_R3001Q,Missense_R3040Q,Missense_R3040Q exm756840 9 80018236 [T/C] NM_033305,NM_001018037 VPS13A,VPS13A EXON Missense_R3092C,Missense_R3053C exm756845 9 80020874 [A/C] NM_033305,NM_001018037 VPS13A,VPS13A EXON Missense_H3124N,Missense_H3085N exm756846 9 80020875 [A/G] NM_033305,NM_001018037 VPS13A,VPS13A EXON Missense_H3124R,Missense_H3085R exm2259441 9 80039006 [C/G] NM_004297 GNA14 EXON Synonymous_V319V exm756871 9 80040495 [T/C] NM_004297 GNA14 EXON Missense_Y287C exm756877 9 80040625 [T/C] NM_004297 GNA14 EXON Missense_M244V exm756884 9 80043930 [A/G] NM_004297 GNA14 EXON Nonsense_R206X exm756892 9 80046340 [T/C] NM_004297 GNA14 EXON Missense_A164T exm756896 9 80049332 [A/T] NM_004297 GNA14 EXON Missense_E139V exm2266915 9 80076247 [A/G] NM_004297 GNA14 Silent exm756905 9 80144008 [A/G] NM_004297 GNA14 EXON Nonsense_Q96X exm2199104 9 80144047 [A/T] NM_004297 GNA14 EXON Missense_M83L exm2259442 9 80144051 [A/G] NM_004297 GNA14 EXON Synonymous_T81T exm756911 9 80144079 [A/G] NM_004297 GNA14 EXON Missense_T72M exm756914 9 80144101 [T/C] NM_004297 GNA14 EXON Missense_D65N exm2271093 9 80164318 [T/C] NM_004297 GNA14 Silent exm-rs6560608 9 80252414 [T/C] NM_004297 GNA14 Silent exm756921 9 80262613 [A/G] NM_004297 GNA14 EXON Missense_R33C exm2271094 9 80515456 [T/G] NM_002072 GNAQ Silent exm756948 9 80851301 [T/C] NM_001098802,NM_032171 CEP78,CEP78 EXON Missense_A12V,Missense_A12V exm756952 9 80851369 [T/C] NM_001098802,NM_032171 CEP78,CEP78 EXON Missense_R35C,Missense_R35C exm756966 9 80855056 [A/G] NM_001098802,NM_032171 CEP78,CEP78 EXON Missense_N124S,Missense_N124S exm756972 9 80855272 [A/G] NM_001098802,NM_032171 CEP78,CEP78 EXON Missense_G164D,Missense_G164D exm756982 9 80863212 [T/C] NM_001098802,NM_032171 CEP78,CEP78 EXON Missense_S300P,Missense_S300P exm756983 9 80863215 [A/G] NM_001098802,NM_032171 CEP78,CEP78 EXON Missense_M301V,Missense_M301V exm756984 9 80863269 [C/G] NM_001098802,NM_032171 CEP78,CEP78 EXON Missense_E319Q,Missense_E319Q exm756994 9 80866902 [T/C] NM_001098802,NM_032171 CEP78,CEP78 EXON Missense_P384L,Missense_P384L exm756999 9 80868170 [T/C] NM_001098802,NM_032171 CEP78,CEP78 EXON Missense_R411C,Missense_R411C exm757018 9 80880442 [A/C] NM_001098802,NM_032171 CEP78,CEP78 EXON Missense_Q595K,Missense_Q595K exm757026 9 80881357 [G/C] NM_001098802,NM_032171 CEP78,CEP78 Silent,Silent exm757036 9 80881659 [A/G] NM_001098802,NM_032171 CEP78,CEP78 EXON Missense_G717E,Missense_G701E exm757059 9 80919826 [A/G] NM_021154,NM_058179 PSAT1,PSAT1 EXON Missense_I123V,Missense_I123V exm757080 9 80923459 [T/G] NM_021154,NM_058179 PSAT1,PSAT1 EXON Missense_A234S,Missense_A234S exm757081 9 80923465 [A/C] NM_021154,NM_058179 PSAT1,PSAT1 EXON Missense_N236H,Missense_N236H exm757083 9 80923484 [T/C] NM_021154,NM_058179 PSAT1,PSAT1 EXON Missense_T242M,Missense_T242M exm757089 9 80932719 [A/G] NM_021154,NM_058179 PSAT1,PSAT1 EXON Missense_V290M,Missense_V290I exm757091 9 80942981 [G/C] NM_021154,NM_058179 PSAT1,PSAT1 EXON Silent,Missense_P295R exm2264368 9 81078138 [A/C] exm2271095 9 81125839 [T/C] exm2271200 9 81692440 [T/C] exm2259446 9 81725579 [T/C] exm-rs2769967 9 81889358 [G/C] exm-rs13292136 9 81952128 [T/C] exm-rs2378383 9 82039362 [A/G] exm757126 9 82187750 [A/G] NM_007005 TLE4 Silent exm757134 9 82242309 [C/G] NM_007005 TLE4 EXON Missense_Q112H exm757140 9 82267611 [C/G] NM_007005 TLE4 EXON Missense_S165T exm757179 9 82324592 [A/G] NM_007005 TLE4 EXON Missense_T440A exm757189 9 82333855 [A/G] NM_007005 TLE4 EXON Missense_N520S exm757205 9 82337885 [A/G] NM_007005 TLE4 EXON Missense_V717I exm-rs2151145 9 82345881 [A/G] exm2271201 9 82359588 [T/C] exm2266838 9 82392719 [A/G] exm-rs12554086 9 82807503 [A/G] exm2266839 9 82812849 [A/G] exm2266916 9 82977316 [A/G] exm2271097 9 83180858 [T/C] exm2259451 9 83686072 [T/C] exm-rs11139177 9 83986875 [A/C] exm2266917 9 84011200 [A/G] exm-rs10867752 9 84015037 [T/C] exm2259452 9 84183462 [T/C] exm757223 9 84200531 [T/C] NM_005077 TLE1 EXON Missense_A673T exm2248313 9 84205867 [A/G] NM_005077 TLE1 EXON Missense_A561V exm757244 9 84205928 [T/C] NM_005077 TLE1 EXON Missense_D541N exm757251 9 84208026 [T/C] NM_005077 TLE1 EXON Missense_V499M exm757273 9 84226753 [T/G] NM_005077 TLE1 EXON Missense_H395Q exm757288 9 84228372 [A/G] NM_005077 TLE1 EXON Missense_T328M exm2248316 9 84231031 [T/C] NM_005077 TLE1 EXON Missense_A262T exm757300 9 84231042 [A/G] NM_005077 TLE1 EXON Missense_S258F exm757307 9 84235367 [A/G] NM_005077 TLE1 EXON Missense_S234P exm757326 9 84249102 [T/C] NM_005077 TLE1 EXON Missense_G163S exm-rs2796441 9 84308948 [A/G] exm2266840 9 84452655 [A/G] exm2271202 9 84521381 [T/C] exm757389 9 84605716 [T/C] NM_001001670 SPATA31D1 EXON Missense_R111W exm757390 9 84605717 [T/G] NM_001001670 SPATA31D1 EXON Missense_R111L exm757391 9 84605743 [T/A] NM_001001670 SPATA31D1 EXON Missense_F120I exm757423 9 84606251 [T/G] NM_001001670 SPATA31D1 EXON Missense_I289S exm757453 9 84606859 [T/C] NM_001001670 SPATA31D1 EXON Missense_F492L exm2199380 9 84607151 [G/C] NM_001001670 SPATA31D1 EXON Missense_R589P exm757482 9 84607203 [T/G] NM_001001670 SPATA31D1 EXON Missense_F606L exm757549 9 84608198 [A/C] NM_001001670 SPATA31D1 EXON Missense_S938Y exm757562 9 84608468 [T/G] NM_001001670 SPATA31D1 EXON Missense_G1028V exm757565 9 84608507 [C/G] NM_001001670 SPATA31D1 EXON Missense_S1041T exm757573 9 84608623 [T/C] NM_001001670 SPATA31D1 EXON Missense_R1080W exm757591 9 84608889 [A/C] NM_001001670 SPATA31D1 EXON Missense_S1168R exm757592 9 84608900 [T/C] NM_001001670 SPATA31D1 EXON Missense_T1172I exm2248329 9 84609012 [T/G] NM_001001670 SPATA31D1 EXON Missense_K1209N exm2199407 9 84609034 [T/C] NM_001001670 SPATA31D1 EXON Nonsense_Q1217X exm757610 9 84609172 [A/G] NM_001001670 SPATA31D1 EXON Missense_G1263R exm757614 9 84609239 [T/C] NM_001001670 SPATA31D1 EXON Missense_T1285M exm757635 9 84609646 [T/C] NM_001001670 SPATA31D1 EXON Missense_H1421Y exm757641 9 84609794 [A/G] NM_001001670 SPATA31D1 EXON Missense_R1470H exm2259454 9 85126163 [T/C] exm-rs668853 9 85311147 [T/C] exm2259455 9 85321895 [A/G] exm-rs1998303 9 85414981 [A/G] exm757688 9 85597642 [T/C] NM_152573 RASEF EXON Missense_G725R exm757711 9 85615159 [T/C] NM_152573 RASEF EXON Missense_A550T exm757715 9 85615362 [T/C] NM_152573 RASEF EXON Missense_A521T exm2199514 9 85615377 [T/C] NM_152573 RASEF EXON Missense_R516G exm757737 9 85616037 [T/C] NM_152573 RASEF EXON Missense_R404H exm757746 9 85620396 [A/G] NM_152573 RASEF EXON Missense_H350Y exm757759 9 85627373 [T/G] NM_152573 RASEF EXON Missense_K273N exm757760 9 85627390 [A/C] NM_152573 RASEF EXON Missense_D268Y exm757763 9 85627408 [A/G] NM_152573 RASEF EXON Missense_R262C exm757768 9 85630809 [A/G] NM_152573 RASEF EXON Missense_R226C exm757770 9 85640699 [A/G] NM_152573 RASEF EXON Missense_A190V exm757771 9 85640744 [T/C] NM_152573 RASEF EXON Missense_R175H exm2271203 9 85752837 [T/C] exm757804 9 85863069 [A/G] NM_001244961,NM_001244959,NM_001244962,NM_001244960,NM_174938 FRMD3,FRMD3,FRMD3,FRMD3,FRMD3 EXON Missense_R326W,Missense_R520W,Missense_R177W,Missense_R476W,Missense_R520W exm757806 9 85863101 [A/G] NM_001244961,NM_001244959,NM_001244962,NM_001244960,NM_174938 FRMD3,FRMD3,FRMD3,FRMD3,FRMD3 EXON Missense_S315L,Missense_S509L,Missense_S166L,Missense_S465L,Missense_S509L exm757807 9 85863113 [T/C] NM_001244961,NM_001244959,NM_001244962,NM_001244960,NM_174938 FRMD3,FRMD3,FRMD3,FRMD3,FRMD3 EXON Missense_R311H,Missense_R505H,Missense_R162H,Missense_R461H,Missense_R505H exm757810 9 85863174 [A/C] NM_001244961,NM_001244959,NM_001244962,NM_001244960,NM_174938 FRMD3,FRMD3,FRMD3,FRMD3,FRMD3 EXON Missense_D291Y,Missense_D485Y,Missense_D142Y,Missense_D441Y,Missense_D485Y exm757811 9 85863197 [T/C] NM_001244961,NM_001244959,NM_001244962,NM_001244960,NM_174938 FRMD3,FRMD3,FRMD3,FRMD3,FRMD3 EXON Missense_R283K,Missense_R477K,Missense_R134K,Missense_R433K,Missense_R477K exm757818 9 85863392 [A/G] NM_001244961,NM_001244959,NM_001244962,NM_001244960,NM_174938 FRMD3,FRMD3,FRMD3,FRMD3,FRMD3 EXON Missense_L218S,Missense_L412S,Missense_L69S,Missense_L368S,Missense_L412S exm757835 9 85924505 [C/G] NM_001244961,NM_001244959,NM_001244960,NM_174938 FRMD3,FRMD3,FRMD3,FRMD3 EXON Missense_P97R,Missense_P291R,Missense_P247R,Missense_P291R exm757842 9 85926813 [A/T] NM_001244961,NM_001244959,NM_001244960,NM_174938 FRMD3,FRMD3,FRMD3,FRMD3 EXON Missense_H60Q,Missense_H254Q,Missense_H210Q,Missense_H254Q exm757851 9 85928654 [T/C] NM_001244961,NM_001244959,NM_001244960,NM_174938 FRMD3,FRMD3,FRMD3,FRMD3 EXON Missense_S8N,Missense_S202N,Missense_S158N,Missense_S202N exm2271101 9 85941646 [T/C] NM_001244961,NM_001244959,NM_001244960,NM_174938 FRMD3,FRMD3,FRMD3,FRMD3 Silent,Silent,Silent,Silent exm757855 9 85950537 [T/C] NM_001244959,NM_001244960,NM_174938 FRMD3,FRMD3,FRMD3 EXON Missense_D164N,Missense_D120N,Missense_D164N exm757857 9 85958114 [T/C] NM_001244959,NM_001244960,NM_174938 FRMD3,FRMD3,FRMD3 EXON Missense_I155V,Missense_I111V,Missense_I155V exm2271102 9 86117611 [T/G] NM_001244959,NM_174938 FRMD3,FRMD3 Silent,Silent exm757877 9 86153092 [A/G] NM_001244959,NM_174938 FRMD3,FRMD3 EXON Missense_H19Y,Missense_H19Y exm757879 9 86153103 [A/G] NM_001244959,NM_174938 FRMD3,FRMD3 EXON Missense_M15T,Missense_M15T exm757893 9 86258357 [A/G] NR_046421,NR_046422,NM_001001551,NM_001256915 IDNK,IDNK,IDNK,IDNK EXON Silent,Silent,Missense_G76R,Missense_G30R exm757909 9 86258520 [T/C] NR_046421,NR_046422,NM_001001551,NM_001256915 IDNK,IDNK,IDNK,IDNK EXON Silent,Silent,Missense_V130A,Missense_V84A exm757911 9 86258564 [T/C] NR_046421,NR_046422,NM_001001551,NM_001256915 IDNK,IDNK,IDNK,IDNK EXON Silent,Silent,Missense_P145S,Missense_P99S exm757917 9 86258685 [A/C] NR_046421,NR_046422,NM_001001551,NM_001256915 IDNK,IDNK,IDNK,IDNK EXON Silent,Silent,Missense_K185T,Missense_K139T exm757926 9 86278899 [C/G] NM_013438,NM_053067 UBQLN1,UBQLN1 EXON Missense_S503C,Missense_S475C exm757947 9 86292683 [A/C] NM_013438,NM_053067 UBQLN1,UBQLN1 EXON Missense_G355V,Missense_G355V exm2248338 9 86292842 [T/C] NM_013438,NM_053067 UBQLN1,UBQLN1 EXON Missense_N302S,Missense_N302S exm757958 9 86293361 [G/C] NM_013438,NM_053067 UBQLN1,UBQLN1 EXON Missense_E289Q,Missense_E289Q exm757963 9 86293490 [A/C] NM_013438,NM_053067 UBQLN1,UBQLN1 EXON Missense_A246S,Missense_A246S exm757972 9 86297871 [C/G] NM_013438,NM_053067 UBQLN1,UBQLN1 EXON Missense_G148A,Missense_G148A exm758000 9 86383740 [T/C] NM_025211,NM_001135953 GKAP1,GKAP1 EXON Missense_H244R,Silent exm758011 9 86399635 [A/G] NM_025211,NM_001135953 GKAP1,GKAP1 EXON Missense_S186L,Missense_S186L exm758025 9 86421293 [G/C] NM_025211,NM_001135953 GKAP1,GKAP1 EXON Missense_S47T,Missense_S47T exm758051 9 86465079 [T/C] NM_017576,NM_001271927,NM_001271928 KIF27,KIF27,KIF27 EXON Missense_R1164Q,Missense_R1098Q,Missense_R1067Q exm758069 9 86474093 [T/A] NM_017576,NM_001271927,NM_001271928 KIF27,KIF27,KIF27 EXON Missense_N1043I,Missense_N977I,Missense_N946I exm758070 9 86474115 [T/C] NM_017576,NM_001271927,NM_001271928 KIF27,KIF27,KIF27 EXON Missense_N1036D,Missense_N970D,Missense_N939D exm2248343 9 86474154 [T/G] NM_017576,NM_001271927,NM_001271928 KIF27,KIF27,KIF27 EXON Missense_L1023I,Missense_L957I,Missense_L926I exm2248345 9 86474192 [T/G] NM_017576,NM_001271927,NM_001271928 KIF27,KIF27,KIF27 EXON Missense_A1010D,Missense_A944D,Missense_A913D exm758076 9 86474227 [G/C] NM_017576,NM_001271927,NM_001271928 KIF27,KIF27,KIF27 EXON Missense_L998F,Missense_L932F,Missense_L901F exm758080 9 86474262 [T/C] NM_017576,NM_001271927,NM_001271928 KIF27,KIF27,KIF27 EXON Missense_I987V,Missense_I921V,Missense_I890V exm2248347 9 86474276 [T/G] NM_017576,NM_001271927,NM_001271928 KIF27,KIF27,KIF27 EXON Missense_T982K,Missense_T916K,Missense_T885K exm758118 9 86503503 [T/C] NM_017576,NM_001271927,NM_001271928 KIF27,KIF27,KIF27 EXON Missense_R662G,Missense_R662G,Missense_R662G exm758139 9 86514659 [A/T] NM_017576,NM_001271927,NM_001271928 KIF27,KIF27,KIF27 EXON Nonsense_K507X,Nonsense_K507X,Nonsense_K507X exm758142 9 86517992 [A/C] NM_017576,NM_001271927,NM_001271928 KIF27,KIF27,KIF27 EXON Nonsense_E481X,Nonsense_E481X,Nonsense_E481X exm758152 9 86518269 [T/A] NM_017576,NM_001271927,NM_001271928 KIF27,KIF27,KIF27 EXON Missense_S388R,Missense_S388R,Missense_S388R exm758153 9 86518285 [A/C] NM_017576,NM_001271927,NM_001271928 KIF27,KIF27,KIF27 EXON Missense_I383S,Missense_I383S,Missense_I383S exm758163 9 86518471 [A/G] NM_017576,NM_001271927,NM_001271928 KIF27,KIF27,KIF27 EXON Missense_S321F,Missense_S321F,Missense_S321F exm758165 9 86518487 [T/C] NM_017576,NM_001271927,NM_001271928 KIF27,KIF27,KIF27 EXON Missense_T316A,Missense_T316A,Missense_T316A exm758166 9 86518496 [T/C] NM_017576,NM_001271927,NM_001271928 KIF27,KIF27,KIF27 EXON Missense_V313I,Missense_V313I,Missense_V313I exm758169 9 86518534 [T/C] NM_017576,NM_001271927,NM_001271928 KIF27,KIF27,KIF27 EXON Missense_R300Q,Missense_R300Q,Missense_R300Q exm2274363 9 86518546 [A/G] NM_017576,NM_001271927,NM_001271928 KIF27,KIF27,KIF27 EXON Missense_A296V,Missense_A296V,Missense_A296V exm2199694 9 86518650 [C/G] NM_017576,NM_001271927,NM_001271928 KIF27,KIF27,KIF27 EXON Missense_F261L,Missense_F261L,Missense_F261L exm758177 9 86518675 [T/C] NM_017576,NM_001271927,NM_001271928 KIF27,KIF27,KIF27 EXON Missense_K253R,Missense_K253R,Missense_K253R exm758192 9 86523532 [A/G] NM_017576,NM_001271927,NM_001271928 KIF27,KIF27,KIF27 EXON Nonsense_R112X,Nonsense_R112X,Nonsense_R112X exm758193 9 86523541 [T/C] NM_017576,NM_001271927,NM_001271928 KIF27,KIF27,KIF27 EXON Missense_I109V,Missense_I109V,Missense_I109V exm-rs7853377 9 86552205 [A/G] exm758206 9 86554430 [T/C] NM_032307 C9orf64 EXON Missense_Y341C exm758208 9 86554482 [A/G] NM_032307 C9orf64 EXON Missense_H324Y exm758223 9 86559809 [G/C] NM_032307 C9orf64 EXON Missense_I231M exm758227 9 86559846 [A/G] NM_032307 C9orf64 EXON Missense_V219A exm758231 9 86559900 [T/C] NM_032307 C9orf64 EXON Missense_K201R exm758235 9 86570364 [T/C] NM_032307 C9orf64 EXON Missense_S177G exm758240 9 86570486 [T/G] NM_032307 C9orf64 EXON Missense_S136Y exm758242 9 86570534 [G/C] NM_032307 C9orf64 EXON Missense_S120W exm758247 9 86571126 [T/C] NM_032307 C9orf64 EXON Missense_S97N exm758260 9 86571366 [T/C] NM_032307 C9orf64 EXON Missense_N17S exm758320 9 86615956 [T/C] NM_024945 RMI1 EXON Missense_H19Y exm758330 9 86616247 [G/C] NM_024945 RMI1 EXON Missense_V116L exm758336 9 86616443 [T/C] NM_024945 RMI1 EXON Missense_L181S exm758352 9 86616898 [A/G] NM_024945 RMI1 EXON Missense_T333A exm758353 9 86616901 [A/G] NM_024945 RMI1 EXON Missense_K334E exm758363 9 86617172 [A/G] NM_024945 RMI1 EXON Missense_D424G exm758368 9 86617265 [A/G] NM_024945 RMI1 EXON Missense_N455S exm758369 9 86617349 [T/C] NM_024945 RMI1 EXON Missense_A483V exm758370 9 86617469 [A/G] NM_024945 RMI1 EXON Missense_S523N exm758373 9 86617489 [A/G] NM_024945 RMI1 EXON Missense_I530V exm758379 9 86617714 [T/G] NM_024945 RMI1 EXON Missense_V605L exm2266842 9 86713990 [A/G] exm-rs2251760 9 86811147 [T/C] exm2262690 9 86826872 [A/C] exm758386 9 86893201 [A/C] NR_037638,NM_001199633,NM_022127 SLC28A3,SLC28A3,SLC28A3 EXON Silent,Missense_L670V,Missense_L670V exm758389 9 86894235 [T/C] NR_037638,NM_001199633,NM_022127 SLC28A3,SLC28A3,SLC28A3 EXON Silent,Missense_T632A,Missense_T632A exm758390 9 86894251 [C/G] NR_037638,NM_001199633,NM_022127 SLC28A3,SLC28A3,SLC28A3 EXON Silent,Missense_E626D,Missense_E626D exm758396 9 86894964 [T/C] NR_037638,NM_001199633,NM_022127 SLC28A3,SLC28A3,SLC28A3 EXON Silent,Missense_R585H,Missense_R585H exm758406 9 86900369 [A/T] NR_037638,NM_001199633,NM_022127 SLC28A3,SLC28A3,SLC28A3 EXON Silent,Missense_Y513F,Missense_Y513F exm758407 9 86900379 [C/G] NR_037638,NM_001199633,NM_022127 SLC28A3,SLC28A3,SLC28A3 EXON Silent,Missense_L510V,Missense_L510V exm758418 9 86902971 [T/C] NR_037638,NM_001199633,NM_022127 SLC28A3,SLC28A3,SLC28A3 EXON Silent,Missense_M424I,Missense_M424I exm758419 9 86902991 [T/G] NR_037638,NM_001199633,NM_022127 SLC28A3,SLC28A3,SLC28A3 EXON Silent,Missense_L418I,Missense_L418I exm758421 9 86903030 [T/G] NR_037638,NM_001199633,NM_022127 SLC28A3,SLC28A3,SLC28A3 EXON Silent,Missense_K405Q,Missense_K405Q exm758430 9 86905107 [T/C] NR_037638,NM_001199633,NM_022127 SLC28A3,SLC28A3,SLC28A3 EXON Silent,Missense_I371V,Missense_I371V exm758432 9 86905122 [T/C] NR_037638,NM_001199633,NM_022127 SLC28A3,SLC28A3,SLC28A3 EXON Silent,Missense_A366T,Missense_A366T exm758439 9 86907582 [T/C] NR_037638,NM_001199633,NM_022127 SLC28A3,SLC28A3,SLC28A3 Silent,Silent,Silent exm758440 9 86907599 [T/C] NR_037638,NM_001199633,NM_022127 SLC28A3,SLC28A3,SLC28A3 EXON Silent,Missense_N336S,Missense_N336S exm758442 9 86907624 [T/C] NR_037638,NM_001199633,NM_022127 SLC28A3,SLC28A3,SLC28A3 EXON Silent,Missense_I328V,Missense_I328V exm758444 9 86907638 [A/G] NR_037638,NM_001199633,NM_022127 SLC28A3,SLC28A3,SLC28A3 EXON Silent,Missense_T323M,Missense_T323M exm758450 9 86909178 [T/C] NR_037638,NM_001199633,NM_022127 SLC28A3,SLC28A3,SLC28A3 EXON Silent,Missense_V292M,Missense_V292M exm758454 9 86912204 [A/C] NR_037638,NM_001199633,NM_022127 SLC28A3,SLC28A3,SLC28A3 EXON Silent,Nonsense_E265X,Nonsense_E265X exm2248358 9 86914503 [T/G] NR_037638,NM_001199633,NM_022127 SLC28A3,SLC28A3,SLC28A3 EXON Silent,Missense_P221Q,Missense_P221Q exm758476 9 86917283 [A/G] NR_037638,NM_001199633,NM_022127 SLC28A3,SLC28A3,SLC28A3 EXON Silent,Missense_S119L,Missense_S119L exm758477 9 86917301 [T/C] NR_037638,NM_001199633,NM_022127 SLC28A3,SLC28A3,SLC28A3 EXON Silent,Missense_Y113C,Missense_Y113C exm758478 9 86920189 [A/G] NR_037638,NM_001199633,NM_022127 SLC28A3,SLC28A3,SLC28A3 EXON Silent,Missense_I105T,Missense_I105T exm758484 9 86924570 [A/C] NR_037638,NM_001199633,NM_022127 SLC28A3,SLC28A3,SLC28A3 EXON Silent,Missense_D72E,Missense_D72E exm758486 9 86924586 [T/C] NR_037638,NM_001199633,NM_022127 SLC28A3,SLC28A3,SLC28A3 EXON Silent,Missense_R67K,Missense_R67K exm758487 9 86924602 [C/G] NR_037638,NM_001199633,NM_022127 SLC28A3,SLC28A3,SLC28A3 EXON Silent,Missense_D62H,Missense_D62H exm758492 9 86955535 [T/C] NR_037638,NM_001199633,NM_022127 SLC28A3,SLC28A3,SLC28A3 EXON Silent,Missense_S5N,Missense_S5N exm758498 9 87285694 [T/G] NM_006180,NM_001018064,NM_001018065,NM_001018066,NM_001007097 NTRK2,NTRK2,NTRK2,NTRK2,NTRK2 EXON Missense_A11S,Missense_A11S,Missense_A11S,Missense_A11S,Missense_A11S exm2266843 9 87295237 [A/G] NM_006180,NM_001018064,NM_001018065,NM_001018066,NM_001007097 NTRK2,NTRK2,NTRK2,NTRK2,NTRK2 Silent,Silent,Silent,Silent,Silent exm758511 9 87322819 [C/G] NM_006180,NM_001018064,NM_001018065,NM_001018066,NM_001007097 NTRK2,NTRK2,NTRK2,NTRK2,NTRK2 EXON Missense_L140F,Missense_L140F,Missense_L140F,Missense_L140F,Missense_L140F exm758515 9 87325623 [A/C] NM_006180,NM_001018064,NM_001018065,NM_001018066,NM_001007097 NTRK2,NTRK2,NTRK2,NTRK2,NTRK2 EXON Missense_S167Y,Missense_S167Y,Missense_S167Y,Missense_S167Y,Missense_S167Y exm758522 9 87338511 [A/G] NM_006180,NM_001018064,NM_001018065,NM_001018066,NM_001007097 NTRK2,NTRK2,NTRK2,NTRK2,NTRK2 EXON Missense_A203T,Missense_A203T,Missense_A203T,Missense_A203T,Missense_A203T exm758523 9 87338515 [A/C] NM_006180,NM_001018064,NM_001018065,NM_001018066,NM_001007097 NTRK2,NTRK2,NTRK2,NTRK2,NTRK2 EXON Missense_P204H,Missense_P204H,Missense_P204H,Missense_P204H,Missense_P204H exm758549 9 87359924 [T/C] NM_006180,NM_001018064,NM_001018065,NM_001018066,NM_001007097 NTRK2,NTRK2,NTRK2,NTRK2,NTRK2 EXON Missense_T411M,Missense_T411M,Missense_T411M,Missense_T411M,Missense_T411M exm758555 9 87359980 [T/C] NM_006180,NM_001018064,NM_001018065,NM_001018066,NM_001007097 NTRK2,NTRK2,NTRK2,NTRK2,NTRK2 EXON Missense_H430Y,Missense_H430Y,Missense_H430Y,Missense_H430Y,Missense_H430Y exm758585 9 87636209 [T/C] NM_006180,NM_001018064 NTRK2,NTRK2 EXON Missense_R792C,Missense_R776C exm2271103 9 87697154 [T/C] exm2266918 9 87861650 [A/G] exm-rs7862326 9 87864354 [A/G] exm-rs2841498 9 87930045 [A/C] exm758596 9 88162066 [T/G] NM_015239 AGTPBP1 EXON Missense_E1173D exm2262692 9 88164213 [A/C] NM_015239 AGTPBP1 Silent exm758606 9 88190348 [T/C] NM_015239 AGTPBP1 EXON Missense_K1089E exm758611 9 88193941 [T/C] NM_015239 AGTPBP1 EXON Missense_K1039R exm758613 9 88193971 [A/C] NM_015239 AGTPBP1 EXON Missense_C1029F exm758618 9 88200388 [A/G] NM_015239 AGTPBP1 EXON Missense_T1012M exm2199867 9 88201746 [G/C] NM_015239 AGTPBP1 EXON Missense_L971F exm758641 9 88207610 [T/G] NM_015239 AGTPBP1 EXON Missense_F771L exm758642 9 88211341 [T/C] NM_015239 AGTPBP1 EXON Missense_V747I exm758650 9 88236150 [A/G] NM_015239 AGTPBP1 EXON Missense_I649T exm758659 9 88247685 [T/C] NM_015239 AGTPBP1 EXON Missense_N596S exm758683 9 88257811 [T/A] NM_015239 AGTPBP1 EXON Missense_E371D exm2199893 9 88272474 [T/C] NM_015239 AGTPBP1 EXON Missense_R262Q exm2199899 9 88287521 [T/C] NM_015239 AGTPBP1 EXON Missense_Q171R exm2199904 9 88292375 [T/C] NM_015239 AGTPBP1 EXON Missense_I138V exm2259462 9 88292394 [T/C] NM_015239 AGTPBP1 EXON Synonymous_L131L exm758729 9 88307655 [T/C] NM_015239 AGTPBP1 EXON Missense_D36N exm758735 9 88307720 [T/C] NM_015239 AGTPBP1 EXON Missense_N14S exm2271104 9 88308127 [T/C] NM_015239 AGTPBP1 Silent exm758756 9 88576932 [T/C] NM_024635 NAA35 EXON Missense_T118M exm758759 9 88576982 [A/G] NM_024635 NAA35 EXON Missense_I135V exm758760 9 88577015 [A/G] NM_024635 NAA35 EXON Missense_M146V exm758764 9 88589897 [A/G] NM_024635 NAA35 EXON Missense_M178V exm758774 9 88593237 [C/G] NM_024635 NAA35 EXON Missense_S273C exm758776 9 88593275 [A/C] NM_024635 NAA35 EXON Missense_Q286K exm758777 9 88611322 [A/G] NM_024635 NAA35 EXON Missense_I296V exm758810 9 88633203 [T/C] NM_024635 NAA35 EXON Missense_R603C exm758814 9 88633656 [T/C] NM_024635 NAA35 EXON Missense_P653S exm758821 9 88648217 [T/C] NM_177937,NM_016548 GOLM1,GOLM1 EXON Missense_G370E,Missense_G370E exm758822 9 88648274 [T/C] NM_177937,NM_016548 GOLM1,GOLM1 EXON Missense_Y351C,Missense_Y351C exm758834 9 88650332 [G/C] NM_177937,NM_016548 GOLM1,GOLM1 EXON Missense_Q322H,Missense_Q322H exm758835 9 88650378 [A/G] NM_177937,NM_016548 GOLM1,GOLM1 EXON Missense_S307L,Missense_S307L exm758841 9 88650531 [T/C] NM_177937,NM_016548 GOLM1,GOLM1 EXON Missense_N256S,Missense_N256S exm758843 9 88651271 [A/G] NM_177937,NM_016548 GOLM1,GOLM1 EXON Missense_V250A,Missense_V250A exm758845 9 88651284 [A/C] NM_177937,NM_016548 GOLM1,GOLM1 EXON Missense_S246A,Missense_S246A exm758847 9 88651316 [A/G] NM_177937,NM_016548 GOLM1,GOLM1 EXON Missense_T235I,Missense_T235I exm758852 9 88651365 [G/C] NM_177937,NM_016548 GOLM1,GOLM1 EXON Missense_E219Q,Missense_E219Q exm758853 9 88651370 [T/C] NM_177937,NM_016548 GOLM1,GOLM1 EXON Missense_H217R,Missense_H217R exm758860 9 88655709 [A/C] NM_177937,NM_016548 GOLM1,GOLM1 EXON Missense_G181V,Missense_G181V exm758866 9 88661440 [T/C] NM_177937,NM_016548 GOLM1,GOLM1 EXON Missense_V138I,Missense_V138I exm758867 9 88661453 [C/G] NM_177937,NM_016548 GOLM1,GOLM1 EXON Missense_R133S,Missense_R133S exm758889 9 88692506 [T/C] NM_177937,NM_016548 GOLM1,GOLM1 EXON Missense_T44A,Missense_T44A exm758905 9 88842282 [T/C] NM_001276367,NM_001276368,NM_001276366,NM_001010907 C9orf153,C9orf153,C9orf153,C9orf153 EXON Silent,Silent,Silent,Missense_H91R exm758909 9 88842771 [T/C] NM_001276367,NM_001276368,NM_001276366,NM_001010907 C9orf153,C9orf153,C9orf153,C9orf153 EXON Missense_R81G,Missense_R81G,Missense_R81G,Missense_S81G exm758910 9 88842804 [T/C] NM_001276367,NM_001276368,NM_001276366,NM_001010907 C9orf153,C9orf153,C9orf153,C9orf153 EXON Missense_A70T,Missense_A70T,Missense_A70T,Missense_A70T exm758912 9 88842822 [T/C] NM_001276367,NM_001276368,NM_001276366,NM_001010907 C9orf153,C9orf153,C9orf153,C9orf153 EXON Missense_M64V,Missense_M64V,Missense_M64V,Missense_M64V exm758913 9 88842845 [A/G] NM_001276367,NM_001276368,NM_001276366,NM_001010907 C9orf153,C9orf153,C9orf153,C9orf153 EXON Missense_V56A,Missense_V56A,Missense_V56A,Missense_V56A exm2248367 9 88842877 [T/C] NM_001276367,NM_001276368,NM_001276366,NM_001010907 C9orf153,C9orf153,C9orf153,C9orf153 EXON Missense_M45I,Missense_M45I,Missense_M45I,Missense_M45I exm758916 9 88842933 [A/G] NM_001276367,NM_001276368,NM_001276366,NM_001010907 C9orf153,C9orf153,C9orf153,C9orf153 EXON Missense_Y27H,Missense_Y27H,Missense_Y27H,Missense_Y27H exm758920 9 88881100 [T/C] NM_030940 ISCA1 EXON Missense_R83K exm758931 9 88916274 [T/C] NM_001185059,NM_001185074,NM_024617 ZCCHC6,ZCCHC6,ZCCHC6 EXON Missense_K1446R,Missense_K1210R,Missense_K1446R exm758932 9 88916346 [T/C] NM_001185059,NM_001185074,NM_024617 ZCCHC6,ZCCHC6,ZCCHC6 EXON Missense_R1422Q,Missense_R1186Q,Missense_R1422Q exm758960 9 88934508 [T/C] NM_001185059,NM_001185074,NM_024617 ZCCHC6,ZCCHC6,ZCCHC6 EXON Missense_D1036N,Silent,Missense_D1036N exm758964 9 88937241 [A/G] NM_001185059,NM_001185074,NM_024617 ZCCHC6,ZCCHC6,ZCCHC6 EXON Synonymous_Y1009Y,Silent,Synonymous_Y1009Y exm758967 9 88937371 [T/C] NM_001185059,NM_001185074,NM_024617 ZCCHC6,ZCCHC6,ZCCHC6 EXON Missense_S966N,Silent,Missense_S966N exm758976 9 88937854 [T/A] NM_001185059,NM_001185074,NM_024617 ZCCHC6,ZCCHC6,ZCCHC6 EXON Missense_K937N,Missense_K814N,Missense_K937N exm758977 9 88937856 [T/C] NM_001185059,NM_001185074,NM_024617 ZCCHC6,ZCCHC6,ZCCHC6 EXON Missense_K937E,Missense_K814E,Missense_K937E exm758980 9 88937943 [T/C] NM_001185059,NM_001185074,NM_024617 ZCCHC6,ZCCHC6,ZCCHC6 EXON Missense_V908M,Missense_V785M,Missense_V908M exm2200015 9 88938114 [T/C] NM_001185059,NM_001185074,NM_024617 ZCCHC6,ZCCHC6,ZCCHC6 EXON Missense_D851N,Missense_D728N,Missense_D851N exm758986 9 88938118 [G/C] NM_001185059,NM_001185074,NM_024617 ZCCHC6,ZCCHC6,ZCCHC6 EXON Missense_E849D,Missense_E726D,Missense_E849D exm758989 9 88938192 [A/C] NM_001185059,NM_001185074,NM_024617 ZCCHC6,ZCCHC6,ZCCHC6 EXON Missense_D825Y,Missense_D702Y,Missense_D825Y exm758994 9 88938456 [T/C] NM_001185059,NM_001185074,NM_024617 ZCCHC6,ZCCHC6,ZCCHC6 EXON Missense_K737E,Missense_K614E,Missense_K737E exm759003 9 88938668 [A/G] NM_001185059,NM_001185074,NM_024617 ZCCHC6,ZCCHC6,ZCCHC6 EXON Missense_T666I,Missense_T543I,Missense_T666I exm759012 9 88940359 [T/C] NM_001185059,NM_001185074,NM_024617 ZCCHC6,ZCCHC6,ZCCHC6 EXON Missense_R560Q,Missense_R437Q,Missense_R560Q exm759016 9 88943274 [A/G] NM_001185059,NM_001185074,NM_024617 ZCCHC6,ZCCHC6,ZCCHC6 EXON Missense_T530M,Missense_T407M,Missense_T530M exm759032 9 88959913 [A/C] NM_001185059,NM_001185074,NM_024617 ZCCHC6,ZCCHC6,ZCCHC6 EXON Missense_V326L,Missense_V326L,Missense_V326L exm759036 9 88960026 [A/G] NM_001185059,NM_001185074,NM_024617 ZCCHC6,ZCCHC6,ZCCHC6 EXON Missense_T288I,Missense_T288I,Missense_T288I exm2248370 9 88961237 [T/C] NM_001185059,NM_001185074,NM_024617 ZCCHC6,ZCCHC6,ZCCHC6 EXON Missense_D227N,Missense_D227N,Missense_D227N exm2200046 9 88967819 [T/A] NM_001185059,NM_001185074,NM_024617 ZCCHC6,ZCCHC6,ZCCHC6 EXON Missense_K99M,Missense_K99M,Missense_K99M exm759061 9 88968063 [A/T] NM_001185059,NM_001185074,NM_024617 ZCCHC6,ZCCHC6,ZCCHC6 EXON Missense_T18S,Missense_T18S,Missense_T18S exm759063 9 88968087 [T/C] NM_001185059,NM_001185074,NM_024617 ZCCHC6,ZCCHC6,ZCCHC6 EXON Missense_V10M,Missense_V10M,Missense_V10M exm-rs353785 9 89099362 [T/C] exm-rs8181166 9 89116628 [G/C] exm2262693 9 89387312 [A/G] exm2259465 9 89432027 [T/G] exm759087 9 89561385 [T/G] NM_002048 GAS1 EXON Missense_R104S exm759112 9 89763788 [T/C] NM_001001709 C9orf170 EXON Missense_S48L exm759118 9 89771501 [A/G] NM_001001709 C9orf170 EXON Missense_R61Q exm759121 9 89771569 [A/G] NM_001001709 C9orf170 EXON Missense_V84I exm759125 9 89771588 [A/G] NM_001001709 C9orf170 EXON Missense_K90R exm2271106 9 89874893 [T/G] exm-rs11141788 9 90019633 [A/G] exm-rs1806864 9 90031669 [G/C] exm2259467 9 90218347 [A/G] NM_004938 DAPK1 Silent exm759146 9 90252858 [T/C] NM_004938 DAPK1 EXON Synonymous_L95L exm759164 9 90256949 [T/G] NM_004938 DAPK1 EXON Missense_K298N exm759182 9 90262235 [A/G] NM_004938 DAPK1 EXON Missense_V416I exm2200104 9 90266449 [T/A] NM_004938 DAPK1 EXON Missense_H545L exm759201 9 90266526 [A/G] NM_004938 DAPK1 EXON Missense_D571N exm759213 9 90272985 [C/G] NM_004938 DAPK1 EXON Missense_I622M exm759222 9 90283560 [T/G] NM_004938 DAPK1 EXON Missense_V658L exm759228 9 90296530 [T/C] NM_004938 DAPK1 EXON Missense_S738F exm759243 9 90313571 [T/C] NM_004938 DAPK1 EXON Missense_A871V exm759253 9 90315151 [T/C] NM_004938 DAPK1 EXON Missense_S957L exm759278 9 90321212 [A/G] NM_004938 DAPK1 EXON Missense_S1076G exm759281 9 90321260 [A/G] NM_004938 DAPK1 EXON Missense_A1092T exm759294 9 90321627 [T/C] NM_004938 DAPK1 EXON Missense_S1214L exm759301 9 90321802 [T/G] NM_004938 DAPK1 EXON Missense_M1272I exm2259468 9 90321943 [A/G] NM_004938 DAPK1 EXON Synonymous_P1319P exm759312 9 90322017 [A/C] NM_004938 DAPK1 EXON Missense_N1344T exm759313 9 90322023 [A/G] NM_004938 DAPK1 EXON Missense_S1346N exm759316 9 90322029 [T/G] NM_004938 DAPK1 EXON Missense_G1348V exm759322 9 90322200 [T/G] NM_004938 DAPK1 EXON Missense_G1405V exm759327 9 90342523 [A/C] NM_001257973,NM_001257971,NM_001912,NM_001257972,NM_145918 CTSL1,CTSL1,CTSL1,CTSL1,CTSL1 EXON Silent,Missense_N2T,Missense_N2T,Missense_N2T,Missense_N2T exm759330 9 90342587 [A/C] NM_001257973,NM_001257971,NM_001912,NM_001257972,NM_145918 CTSL1,CTSL1,CTSL1,CTSL1,CTSL1 EXON Silent,Missense_H23Q,Missense_H23Q,Missense_H23Q,Missense_H23Q exm759343 9 90343265 [A/C] NM_001257973,NM_001257971,NM_001912,NM_001257972,NM_145918 CTSL1,CTSL1,CTSL1,CTSL1,CTSL1 EXON Silent,Missense_S117Y,Missense_S117Y,Missense_S117Y,Missense_S117Y exm759346 9 90343561 [A/G] NM_001257973,NM_001257971,NM_001912,NM_001257972,NM_145918 CTSL1,CTSL1,CTSL1,CTSL1,CTSL1 EXON Silent,Missense_R153Q,Missense_R153Q,Missense_R153Q,Missense_R153Q exm759350 9 90343723 [T/C] NM_001257973,NM_001257971,NM_001912,NM_001257972,NM_145918 CTSL1,CTSL1,CTSL1,CTSL1,CTSL1 EXON Missense_T25I,Missense_T207I,Missense_T207I,Missense_T207I,Missense_T207I exm759355 9 90344548 [A/G] NM_001257973,NM_001257971,NM_001912,NM_001257972,NM_145918 CTSL1,CTSL1,CTSL1,CTSL1,CTSL1 EXON Missense_I46V,Missense_I228V,Missense_I228V,Missense_I228V,Missense_I228V exm759360 9 90345404 [T/G] NM_001257973,NM_001257971,NM_001912,NM_001257972,NM_145918 CTSL1,CTSL1,CTSL1,CTSL1,CTSL1 EXON Missense_V116G,Missense_V298G,Missense_V298G,Missense_V298G,Missense_V298G exm2271204 9 90359962 [T/C] exm2248375 9 90497810 [A/G] NM_178828 SPATA31E1 EXON Missense_G2R exm759409 9 90497847 [A/G] NM_178828 SPATA31E1 EXON Missense_G14D exm759416 9 90497948 [T/C] NM_178828 SPATA31E1 EXON Missense_P48S exm759419 9 90497961 [T/C] NM_178828 SPATA31E1 EXON Missense_P52L exm759420 9 90498000 [T/G] NM_178828 SPATA31E1 EXON Missense_M65R exm759424 9 90498061 [A/C] NM_178828 SPATA31E1 EXON Nonsense_Y85X exm759426 9 90498083 [A/C] NM_178828 SPATA31E1 EXON Missense_P93T exm759429 9 90498092 [A/G] NM_178828 SPATA31E1 EXON Missense_G96R exm759432 9 90498925 [A/G] NM_178828 SPATA31E1 EXON Missense_G110R exm759436 9 90499526 [A/G] NM_178828 SPATA31E1 EXON Missense_E129K exm759447 9 90499982 [T/C] NM_178828 SPATA31E1 EXON Missense_P194S exm759451 9 90500102 [T/C] NM_178828 SPATA31E1 EXON Missense_P234S exm759454 9 90500157 [T/C] NM_178828 SPATA31E1 EXON Missense_L252P exm759473 9 90500405 [A/C] NM_178828 SPATA31E1 EXON Missense_T335P exm759479 9 90500541 [A/G] NM_178828 SPATA31E1 EXON Missense_E380G exm759480 9 90500561 [A/G] NM_178828 SPATA31E1 EXON Missense_D387N exm759483 9 90500627 [A/G] NM_178828 SPATA31E1 EXON Missense_V409M exm759493 9 90500747 [A/G] NM_178828 SPATA31E1 EXON Missense_E449K exm759516 9 90501125 [T/C] NM_178828 SPATA31E1 EXON Missense_P575S exm759517 9 90501133 [A/G] NM_178828 SPATA31E1 EXON Nonsense_W577X exm759524 9 90501337 [A/C] NM_178828 SPATA31E1 EXON Missense_S645R exm759527 9 90501357 [A/C] NM_178828 SPATA31E1 EXON Missense_D652A exm759536 9 90501448 [A/C] NM_178828 SPATA31E1 EXON Missense_D682E exm759537 9 90501460 [T/G] NM_178828 SPATA31E1 EXON Missense_K686N exm759538 9 90501465 [A/G] NM_178828 SPATA31E1 EXON Missense_R688K exm2200203 9 90501483 [T/C] NM_178828 SPATA31E1 EXON Missense_T694I exm759541 9 90501500 [A/G] NM_178828 SPATA31E1 EXON Missense_G700R exm759542 9 90501514 [G/C] NM_178828 SPATA31E1 EXON Missense_D704E exm759550 9 90501707 [C/G] NM_178828 SPATA31E1 EXON Missense_L769V exm759552 9 90501755 [A/G] NM_178828 SPATA31E1 EXON Missense_V785M exm2200207 9 90501759 [A/G] NM_178828 SPATA31E1 EXON Missense_R786H exm759554 9 90501804 [T/C] NM_178828 SPATA31E1 EXON Missense_T801I exm759560 9 90501980 [A/G] NM_178828 SPATA31E1 EXON Missense_V860I exm759566 9 90502058 [G/C] NM_178828 SPATA31E1 EXON Missense_E886Q exm759569 9 90502144 [A/G] NM_178828 SPATA31E1 EXON Synonymous_P914P exm2259470 9 90502144 [A/G] NM_178828 SPATA31E1 EXON Synonymous_P914P exm759570 9 90502152 [A/G] NM_178828 SPATA31E1 EXON Missense_S917N exm759578 9 90502236 [A/G] NM_178828 SPATA31E1 EXON Missense_R945Q exm759585 9 90502289 [A/G] NM_178828 SPATA31E1 EXON Missense_T963A exm759588 9 90502340 [A/G] NM_178828 SPATA31E1 EXON Missense_G980R exm759590 9 90502458 [A/T] NM_178828 SPATA31E1 EXON Missense_V1019E exm759591 9 90502470 [A/G] NM_178828 SPATA31E1 EXON Missense_G1023E exm759599 9 90502664 [C/G] NM_178828 SPATA31E1 EXON Missense_E1088Q exm759601 9 90502683 [T/C] NM_178828 SPATA31E1 EXON Missense_A1094V exm759603 9 90502704 [T/C] NM_178828 SPATA31E1 EXON Missense_A1101V exm759612 9 90502841 [G/C] NM_178828 SPATA31E1 EXON Missense_Q1147E exm759619 9 90502959 [A/C] NM_178828 SPATA31E1 EXON Missense_P1186Q exm759620 9 90502961 [A/G] NM_178828 SPATA31E1 EXON Missense_K1187E exm759621 9 90502976 [A/C] NM_178828 SPATA31E1 EXON Missense_Q1192K exm759625 9 90503007 [A/G] NM_178828 SPATA31E1 EXON Missense_D1202G exm759630 9 90503219 [G/C] NM_178828 SPATA31E1 EXON Missense_G1273R exm759635 9 90503310 [A/G] NM_178828 SPATA31E1 EXON Missense_G1303D exm759636 9 90503313 [G/C] NM_178828 SPATA31E1 EXON Missense_P1304R exm759639 9 90503433 [A/G] NM_178828 SPATA31E1 EXON Missense_R1344H exm759643 9 90503487 [A/G] NM_178828 SPATA31E1 EXON Missense_G1362D exm759648 9 90503563 [G/C] NM_178828 SPATA31E1 EXON Missense_H1387Q exm2259471 9 90503734 [T/C] NM_178828 SPATA31E1 EXON Synonymous_A1444A exm759745 9 90582445 [T/C] NM_001170640,NM_178432,NM_012119,NM_001170639,NM_001039803 CDK20,CDK20,CDK20,CDK20,CDK20 EXON Silent,Missense_V317M,Missense_V304M,Silent,Missense_V325M exm759751 9 90584110 [T/C] NM_001170640,NM_178432,NM_012119,NM_001170639,NM_001039803 CDK20,CDK20,CDK20,CDK20,CDK20 EXON Missense_R219G,Missense_K273R,Missense_K260R,Missense_K260R,Missense_K281R exm759767 9 90584710 [T/C] NM_001170640,NM_178432,NM_012119,NM_001170639,NM_001039803 CDK20,CDK20,CDK20,CDK20,CDK20 Silent,Silent,Silent,Silent,Silent exm759783 9 90585511 [A/G] NM_001170640,NM_178432,NM_012119,NM_001170639,NM_001039803 CDK20,CDK20,CDK20,CDK20,CDK20 EXON Silent,Silent,Silent,Silent,Missense_R179C exm759792 9 90585719 [A/G] NM_001170640,NM_178432,NM_012119,NM_001170639,NM_001039803 CDK20,CDK20,CDK20,CDK20,CDK20 EXON Missense_R158C,Missense_R171C,Missense_R158C,Missense_R158C,Missense_R158C exm759801 9 90586063 [T/C] NM_001170640,NM_178432,NM_012119,NM_001170639,NM_001039803 CDK20,CDK20,CDK20,CDK20,CDK20 EXON Missense_R126Q,Missense_R139Q,Missense_R126Q,Missense_R126Q,Missense_R126Q exm759805 9 90586123 [T/C] NM_001170640,NM_178432,NM_012119,NM_001170639,NM_001039803 CDK20,CDK20,CDK20,CDK20,CDK20 EXON Missense_S106N,Missense_S119N,Missense_S106N,Missense_S106N,Missense_S106N exm759829 9 90588970 [A/C] NM_001170640,NM_178432,NM_012119,NM_001170639,NM_001039803 CDK20,CDK20,CDK20,CDK20,CDK20 EXON Silent,Missense_C32F,Silent,Silent,Silent exm2266846 9 90648222 [A/G] exm-rs2814828 9 90811182 [T/C] exm-rs2778031 9 90835726 [T/C] exm-rs10746839 9 90883630 [A/G] exm759928 9 91083288 [A/G] NM_006717 SPIN1 EXON Synonymous_A119A exm759952 9 91150603 [T/A] NM_145283,NM_001161625 NXNL2,NXNL2 EXON Missense_E85V,Missense_E85V exm2266920 9 91154126 [A/G] NM_145283,NM_001161625 NXNL2,NXNL2 Silent,Silent exm759956 9 91159341 [T/C] NM_145283,NM_001161625 NXNL2,NXNL2 EXON Silent,Missense_I117T exm759957 9 91159392 [A/G] NM_145283,NM_001161625 NXNL2,NXNL2 EXON Silent,Missense_R134Q exm759971 9 91262347 [T/A] NM_001100111 LOC286238 EXON Missense_L99H exm759973 9 91262353 [T/C] NM_001100111 LOC286238 EXON Missense_H97R exm759974 9 91262357 [A/G] NM_001100111 LOC286238 EXON Missense_C96R exm759975 9 91262387 [A/G] NM_001100111 LOC286238 EXON Missense_R86W exm759977 9 91262434 [A/G] NM_001100111 LOC286238 EXON Missense_M70T exm759980 9 91262494 [T/G] NM_001100111 LOC286238 EXON Missense_P50H exm759981 9 91262522 [A/T] NM_001100111 LOC286238 EXON Missense_N41Y exm759984 9 91262545 [A/G] NM_001100111 LOC286238 EXON Missense_I33T exm759987 9 91266909 [T/G] NM_001100111 LOC286238 EXON Missense_Q12K exm759989 9 91266935 [A/G] NM_001100111 LOC286238 EXON Missense_S3F exm2259473 9 91360612 [T/C] exm759991 9 91605923 [T/C] NM_001142413,NM_001001938 C9orf47,C9orf47 EXON Missense_W5R,Missense_W5R exm759994 9 91605963 [T/G] NM_001142413,NM_001001938 C9orf47,C9orf47 EXON Missense_I18S,Missense_I18S exm759995 9 91605981 [T/C] NM_001142413,NM_001001938 C9orf47,C9orf47 EXON Missense_S24L,Missense_S24L exm760002 9 91606398 [C/G] NM_001142413,NM_001001938,NM_005226 C9orf47,C9orf47,S1PR3 EXON Missense_P68R,Missense_P87R,Silent exm2200302 9 91606791 [A/G] NM_001142413,NM_001001938,NM_005226 C9orf47,C9orf47,S1PR3 EXON Missense_G147D,Missense_G166D,Silent exm760010 9 91606806 [T/C] NM_001142413,NM_001001938,NM_005226 C9orf47,C9orf47,S1PR3 EXON Missense_T152I,Missense_T171I,Silent exm760011 9 91606812 [A/G] NM_001142413,NM_001001938,NM_005226 C9orf47,C9orf47,S1PR3 EXON Missense_S154N,Missense_S173N,Silent exm2274365 9 91606899 [A/G] NM_001142413,NM_001001938,NM_005226 C9orf47,C9orf47,S1PR3 EXON Missense_N183S,Missense_N202S,Silent exm2271108 9 91607869 [T/C] NM_001142413,NM_001001938,NM_005226 C9orf47,C9orf47,S1PR3 EXON Silent,Silent,Silent exm760019 9 91616138 [A/G] NM_005226 S1PR3 EXON Missense_R8H exm760033 9 91616573 [A/G] NM_005226 S1PR3 EXON Missense_R153H exm2248409 9 91616590 [T/G] NM_005226 S1PR3 EXON Missense_G159W exm760039 9 91616615 [T/C] NM_005226 S1PR3 EXON Missense_T167M exm2248410 9 91616788 [A/G] NM_005226 S1PR3 EXON Missense_S225G exm760046 9 91616843 [A/G] NM_005226 S1PR3 EXON Missense_R243Q exm760050 9 91616909 [T/C] NM_005226 S1PR3 EXON Missense_I265T exm760059 9 91617034 [T/C] NM_005226 S1PR3 EXON Missense_R307W exm760070 9 91617194 [T/C] NM_005226 S1PR3 EXON Missense_P360L exm760094 9 91653075 [T/C] NM_016848 SHC3 EXON Missense_E497K exm760104 9 91657009 [A/G] NM_016848 SHC3 EXON Missense_P431L exm760110 9 91657078 [A/G] NM_016848 SHC3 EXON Missense_T408M exm760127 9 91667039 [A/T] NM_016848 SHC3 EXON Missense_D292V exm760137 9 91690082 [T/C] NM_016848 SHC3 EXON Missense_S224N exm-rs1980889 9 91899245 [T/C] exm760173 9 91930085 [G/C] NM_001827 CKS2 EXON Synonymous_R20R exm760196 9 91940428 [A/G] NM_024077 SECISBP2 EXON Missense_Y90C exm760215 9 91943699 [A/G] NM_024077 SECISBP2 EXON Missense_M233I exm760217 9 91943781 [T/C] NM_024077 SECISBP2 EXON Missense_P261S exm760224 9 91947901 [A/G] NM_024077 SECISBP2 EXON Missense_E294K exm760231 9 91949593 [T/C] NM_024077 SECISBP2 EXON Missense_S346F exm760245 9 91961836 [T/G] NM_024077 SECISBP2 EXON Missense_G492V exm2200397 9 91964727 [T/C] NM_024077 SECISBP2 EXON Missense_S592L exm760267 9 91972409 [A/G] NM_024077 SECISBP2 EXON Missense_A733T exm760268 9 91972419 [A/G] NM_024077 SECISBP2 EXON Missense_R736H exm760277 9 91977321 [A/G] NM_001142287 SEMA4D EXON Missense_L738P exm760283 9 91978397 [T/C] NM_001142287 SEMA4D EXON Missense_R713K exm760292 9 91978721 [T/C] NM_001142287 SEMA4D EXON Missense_R676H exm760293 9 91978731 [T/C] NM_001142287 SEMA4D EXON Missense_A673T exm760294 9 91978764 [A/G] NM_001142287 SEMA4D EXON Missense_L662F exm760319 9 91993815 [T/C] NM_001142287,NM_006378 SEMA4D,SEMA4D EXON Silent,Missense_S798N exm760330 9 91994016 [T/C] NM_001142287,NM_006378 SEMA4D,SEMA4D EXON Silent,Missense_S731N exm760332 9 91994026 [A/G] NM_001142287,NM_006378 SEMA4D,SEMA4D EXON Silent,Missense_L728F exm760339 9 91994101 [A/G] NM_001142287,NM_006378 SEMA4D,SEMA4D EXON Silent,Missense_P703S exm760350 9 91994199 [A/G] NM_001142287,NM_006378 SEMA4D,SEMA4D EXON Silent,Missense_T670I exm760357 9 91994433 [T/C] NM_001142287,NM_006378 SEMA4D,SEMA4D EXON Silent,Missense_G592D exm760359 9 91994524 [A/G] NM_001142287,NM_006378 SEMA4D,SEMA4D EXON Silent,Missense_R562W exm760362 9 91995971 [T/C] NM_001142287,NM_006378 SEMA4D,SEMA4D EXON Synonymous_P554P,Synonymous_P554P exm760386 9 91996255 [T/C] NM_001142287,NM_006378 SEMA4D,SEMA4D EXON Missense_R485G,Missense_R485G exm760396 9 92002324 [T/C] NM_001142287,NM_006378 SEMA4D,SEMA4D EXON Missense_Y436C,Missense_Y436C exm760398 9 92002381 [A/T] NM_001142287,NM_006378 SEMA4D,SEMA4D EXON Missense_D417V,Missense_D417V exm760400 9 92002423 [A/G] NM_001142287,NM_006378 SEMA4D,SEMA4D EXON Missense_S403L,Missense_S403L exm760405 9 92003576 [A/G] NM_001142287,NM_006378 SEMA4D,SEMA4D EXON Missense_P361L,Missense_P361L exm760408 9 92003653 [G/C] NM_001142287,NM_006378 SEMA4D,SEMA4D EXON Missense_E335D,Missense_E335D exm760409 9 92003679 [T/C] NM_001142287,NM_006378 SEMA4D,SEMA4D EXON Missense_A327T,Missense_A327T exm760416 9 92003856 [T/C] NM_001142287,NM_006378 SEMA4D,SEMA4D EXON Missense_R294Q,Missense_R294Q exm760422 9 92006211 [A/C] NM_001142287,NM_006378 SEMA4D,SEMA4D EXON Missense_V248L,Missense_V248L exm760443 9 92017824 [T/C] NM_001142287,NM_006378 SEMA4D,SEMA4D EXON Missense_A72T,Missense_A72T exm760450 9 92020291 [T/C] NM_001142287,NM_006378 SEMA4D,SEMA4D EXON Missense_I27M,Missense_I27M exm760475 9 92220760 [A/G] NM_006705 GADD45G EXON Missense_G112S exm-rs10908907 9 92249584 [A/G] exm2266921 9 92260403 [A/G] NR_024280 UNQ6494 Silent exm2266847 9 92290874 [A/G] NR_024280 UNQ6494 Silent exm2259476 9 92701618 [A/G] exm-rs2081670 9 92887231 [T/C] exm2259477 9 93072009 [T/C] exm2266922 9 93080194 [A/G] exm-rs1831521 9 93409357 [A/G] exm760501 9 93606193 [A/G] NM_001135052,NM_003177,NM_001174168,NM_001174167 SYK,SYK,SYK,SYK EXON Missense_G5S,Missense_G5S,Missense_G5S,Missense_G5S exm760513 9 93606392 [A/T] NM_001135052,NM_003177,NM_001174168,NM_001174167 SYK,SYK,SYK,SYK EXON Missense_N71I,Missense_N71I,Missense_N71I,Missense_N71I exm2248416 9 93606572 [A/T] NM_001135052,NM_003177,NM_001174168,NM_001174167 SYK,SYK,SYK,SYK EXON Missense_Y131F,Missense_Y131F,Missense_Y131F,Missense_Y131F exm760528 9 93626937 [A/C] NM_001135052,NM_003177,NM_001174168,NM_001174167 SYK,SYK,SYK,SYK EXON Missense_I262L,Missense_I262L,Missense_I262L,Missense_I262L exm760532 9 93627351 [A/G] NM_001135052,NM_003177,NM_001174168,NM_001174167 SYK,SYK,SYK,SYK EXON Missense_R273H,Missense_R273H,Missense_R273H,Missense_R273H exm2259478 9 93636491 [C/G] NM_001135052,NM_003177,NM_001174168,NM_001174167 SYK,SYK,SYK,SYK EXON Synonymous_S284S,Synonymous_S307S,Synonymous_S284S,Synonymous_S307S exm760540 9 93636491 [C/G] NM_001135052,NM_003177,NM_001174168,NM_001174167 SYK,SYK,SYK,SYK EXON Synonymous_S284S,Synonymous_S307S,Synonymous_S284S,Synonymous_S307S exm2259479 9 93714388 [T/C] exm2262699 9 93941796 [A/G] exm-rs773506 9 93975471 [A/G] exm760597 9 93983200 [T/C] NM_001698 AUH EXON Missense_D244N exm760599 9 93983209 [A/G] NM_001698 AUH EXON Nonsense_R241X exm760619 9 94118202 [T/C] NM_001698 AUH EXON Missense_I127M exm760642 9 94171696 [A/G] NM_005384 NFIL3 EXON Missense_S441P exm760675 9 94172507 [T/C] NM_005384 NFIL3 EXON Missense_M170I exm760684 9 94172581 [A/C] NM_005384 NFIL3 EXON Missense_A146S exm760688 9 94172642 [G/C] NM_005384 NFIL3 EXON Missense_K125N exm760695 9 94172992 [T/C] NM_005384 NFIL3 EXON Missense_V9I exm760716 9 94485971 [G/C] NM_004560 ROR2 EXON Missense_D935E exm760720 9 94486078 [T/C] NM_004560 ROR2 EXON Missense_A900T exm760723 9 94486092 [T/C] NM_004560 ROR2 EXON Missense_D895G exm2200541 9 94486156 [T/C] NM_004560 ROR2 EXON Missense_V874I exm760732 9 94486233 [A/G] NM_004560 ROR2 EXON Missense_P848L exm760738 9 94486315 [T/C] NM_004560 ROR2 EXON Missense_V821I exm760750 9 94486491 [A/G] NM_004560 ROR2 EXON Missense_S762L exm760752 9 94486536 [T/C] NM_004560 ROR2 EXON Missense_R747Q exm2248419 9 94486564 [A/G] NM_004560 ROR2 EXON Missense_R738C exm2200548 9 94486667 [A/C] NM_004560 ROR2 EXON Missense_E703D exm760760 9 94486693 [T/C] NM_004560 ROR2 EXON Missense_G695R exm2259481 9 94486742 [A/G] NM_004560 ROR2 EXON Synonymous_Y678Y exm760775 9 94486942 [C/G] NM_004560 ROR2 EXON Missense_V612L exm760785 9 94487020 [T/C] NM_004560 ROR2 EXON Missense_A586T exm760787 9 94487040 [A/T] NM_004560 ROR2 EXON Missense_D579V exm760789 9 94487056 [A/C] NM_004560 ROR2 EXON Missense_V574L exm760801 9 94487122 [T/C] NM_004560 ROR2 EXON Missense_I552V exm760802 9 94487134 [A/G] NM_004560 ROR2 EXON Missense_P548S exm760807 9 94487187 [T/C] NM_004560 ROR2 EXON Missense_R530Q exm760809 9 94487193 [T/C] NM_004560 ROR2 EXON Missense_R528Q exm760815 9 94487253 [A/G] NM_004560 ROR2 EXON Missense_T508M exm760817 9 94487296 [T/C] NM_004560 ROR2 EXON Missense_G494S exm760834 9 94493288 [T/C] NM_004560 ROR2 EXON Missense_A363T exm760835 9 94493330 [C/G] NM_004560 ROR2 EXON Missense_H349D exm2259482 9 94495516 [T/C] NM_004560 ROR2 EXON Synonymous_P275P exm760859 9 94495610 [C/G] NM_004560 ROR2 EXON Missense_R244P exm760860 9 94495611 [A/G] NM_004560 ROR2 EXON Missense_R244W exm760861 9 94495620 [T/C] NM_004560 ROR2 EXON Missense_A241T exm2271111 9 94508700 [T/C] NM_004560 ROR2 Silent exm760887 9 94519698 [A/G] NM_004560 ROR2 EXON Missense_R107W exm760888 9 94519700 [A/G] NM_004560 ROR2 EXON Missense_P106L exm2271205 9 94685926 [T/C] NM_004560 ROR2 Silent exm760920 9 94794758 [T/C] NM_006415 SPTLC1 EXON Missense_V471I exm760923 9 94794784 [T/G] NM_006415 SPTLC1 EXON Missense_S462Y exm760934 9 94800624 [C/G] NM_006415 SPTLC1 EXON Missense_G387A exm760942 9 94809474 [T/C] NM_006415 SPTLC1 EXON Missense_N354S exm760969 9 94830356 [A/C] NM_006415 SPTLC1 EXON Missense_R151L exm760975 9 94842337 [A/C] NM_006415,NM_178324 SPTLC1,SPTLC1 EXON Missense_V130L,Missense_V130L exm760981 9 94843245 [A/G] NM_006415,NM_178324 SPTLC1,SPTLC1 EXON Synonymous_G87G,Synonymous_G87G exm2271112 9 94882488 [T/C] exm760993 9 94973151 [T/C] NR_073446,NM_013417,NM_002161 IARS,IARS,IARS EXON Silent,Missense_V1243M,Missense_V1243M exm760995 9 94973165 [A/G] NR_073446,NM_013417,NM_002161 IARS,IARS,IARS EXON Silent,Missense_T1238I,Missense_T1238I exm760997 9 94984803 [T/C] NR_073446,NM_013417,NM_002161 IARS,IARS,IARS EXON Silent,Synonymous_Q1235Q,Synonymous_Q1235Q exm761003 9 94984945 [A/G] NR_073446,NM_013417,NM_002161 IARS,IARS,IARS EXON Silent,Missense_M1188T,Missense_M1188T exm761008 9 94985703 [A/G] NR_073446,NM_013417,NM_002161 IARS,IARS,IARS EXON Silent,Missense_P1160S,Missense_P1160S exm761010 9 94985708 [A/G] NR_073446,NM_013417,NM_002161 IARS,IARS,IARS EXON Silent,Missense_S1158L,Missense_S1158L exm761011 9 94985724 [A/G] NR_073446,NM_013417,NM_002161 IARS,IARS,IARS EXON Silent,Missense_C1153R,Missense_C1153R exm761030 9 95003243 [A/G] NR_073446,NM_013417,NM_002161 IARS,IARS,IARS EXON Silent,Synonymous_L1060L,Synonymous_L1060L exm761034 9 95004467 [A/G] NR_073446,NM_013417,NM_002161 IARS,IARS,IARS EXON Silent,Missense_S1049L,Missense_S1049L exm761035 9 95004477 [T/C] NR_073446,NM_013417,NM_002161 IARS,IARS,IARS EXON Silent,Missense_V1046I,Missense_V1046I exm761041 9 95005516 [T/C] NR_073446,NM_013417,NM_002161 IARS,IARS,IARS EXON Silent,Missense_I994M,Missense_I994M exm2200638 9 95005523 [T/C] NR_073446,NM_013417,NM_002161 IARS,IARS,IARS EXON Silent,Missense_N992S,Missense_N992S exm761056 9 95009709 [A/G] NR_073446,NM_013417,NM_002161 IARS,IARS,IARS EXON Silent,Missense_T914M,Missense_T914M exm761061 9 95009826 [T/C] NR_073446,NM_013417,NM_002161 IARS,IARS,IARS EXON Silent,Missense_N875S,Missense_N875S exm761066 9 95012497 [A/G] NR_073446,NM_013417,NM_002161 IARS,IARS,IARS EXON Silent,Missense_I835T,Missense_I835T exm761067 9 95012501 [T/C] NR_073446,NM_013417,NM_002161 IARS,IARS,IARS EXON Silent,Missense_V834M,Missense_V834M exm761089 9 95019048 [A/G] NR_073446,NM_013417,NM_002161 IARS,IARS,IARS EXON Silent,Missense_T684M,Missense_T684M exm761093 9 95019082 [C/G] NR_073446,NM_013417,NM_002161 IARS,IARS,IARS EXON Silent,Missense_E673Q,Missense_E673Q exm761124 9 95030556 [T/C] NR_073446,NM_013417,NM_002161 IARS,IARS,IARS EXON Silent,Missense_R444Q,Missense_R444Q exm761125 9 95030565 [T/C] NR_073446,NM_013417,NM_002161 IARS,IARS,IARS EXON Silent,Missense_R441Q,Missense_R441Q exm761144 9 95033316 [A/G] NR_073446,NM_013417,NM_002161 IARS,IARS,IARS EXON Silent,Nonsense_R386X,Nonsense_R386X exm761145 9 95033346 [T/C] NR_073446,NM_013417,NM_002161 IARS,IARS,IARS EXON Silent,Missense_S376G,Missense_S376G exm761147 9 95033832 [T/C] NR_073446,NM_013417,NM_002161 IARS,IARS,IARS EXON Silent,Missense_A366T,Missense_A366T exm761150 9 95033901 [A/G] NR_073446,NM_013417,NM_002161 IARS,IARS,IARS EXON Silent,Missense_R343W,Missense_R343W exm761156 9 95036742 [A/G] NR_073446,NM_013417,NM_002161 IARS,IARS,IARS EXON Silent,Missense_T319I,Missense_T319I exm761157 9 95036747 [T/G] NR_073446,NM_013417,NM_002161 IARS,IARS,IARS EXON Silent,Missense_E317D,Missense_E317D exm761158 9 95036748 [T/C] NR_073446,NM_013417,NM_002161 IARS,IARS,IARS EXON Silent,Missense_E317G,Missense_E317G exm761159 9 95036794 [A/T] NR_073446,NM_013417,NM_002161 IARS,IARS,IARS EXON Silent,Missense_N302Y,Missense_N302Y exm761168 9 95040524 [A/G] NR_073446,NM_013417,NM_002161 IARS,IARS,IARS EXON Silent,Missense_S264P,Missense_S264P exm761173 9 95043108 [C/G] NR_073446,NM_013417,NM_002161 IARS,IARS,IARS EXON Silent,Missense_A222G,Missense_A222G exm761179 9 95048075 [T/C] NR_073446,NM_013417,NM_002161 IARS,IARS,IARS EXON Silent,Missense_V176M,Missense_V176M exm761182 9 95048890 [T/C] NR_073446,NM_013417,NM_002161 IARS,IARS,IARS EXON Silent,Missense_S136N,Missense_S136N exm761188 9 95050117 [T/C] NR_073446,NM_013417,NM_002161 IARS,IARS,IARS EXON Silent,Missense_N118D,Missense_N118D exm761197 9 95050509 [T/C] NR_073446,NM_013417,NM_002161 IARS,IARS,IARS EXON Silent,Missense_I59V,Missense_I59V exm761202 9 95051677 [T/C] NR_073446,NM_013417,NM_002161 IARS,IARS,IARS EXON Silent,Missense_I9V,Missense_I9V exm761203 9 95051692 [T/G] NR_073446,NM_013417,NM_002161 IARS,IARS,IARS EXON Silent,Missense_Q4K,Missense_Q4K exm761211 9 95060161 [T/C] NM_001256394,NR_046106,NM_017948 NOL8,NOL8,NOL8 EXON Missense_R1086Q,Silent,Missense_R1154Q exm761230 9 95062278 [T/C] NM_001256394,NR_046106,NM_017948 NOL8,NOL8,NOL8 EXON Missense_V998M,Silent,Missense_V1066M exm761233 9 95063947 [T/C] NM_001256394,NR_046106,NM_017948 NOL8,NOL8,NOL8 EXON Missense_G953S,Silent,Missense_G1021S exm2200707 9 95064042 [A/G] NM_001256394,NR_046106,NM_017948 NOL8,NOL8,NOL8 EXON Missense_M921T,Silent,Missense_M989T exm761236 9 95064044 [T/G] NM_001256394,NR_046106,NM_017948 NOL8,NOL8,NOL8 EXON Missense_E920D,Silent,Missense_E988D exm761240 9 95064090 [T/C] NM_001256394,NR_046106,NM_017948 NOL8,NOL8,NOL8 EXON Missense_K905R,Silent,Missense_K973R exm761254 9 95068059 [T/C] NM_001256394,NR_046106,NM_017948 NOL8,NOL8,NOL8 EXON Missense_K892R,Silent,Missense_K960R exm761258 9 95069263 [T/A] NM_001256394,NR_046106,NM_017948 NOL8,NOL8,NOL8 EXON Missense_E842D,Silent,Missense_E910D exm761263 9 95072500 [T/C] NM_001256394,NR_046106,NM_017948 NOL8,NOL8,NOL8 EXON Missense_R812H,Silent,Missense_R880H exm761264 9 95072501 [A/G] NM_001256394,NR_046106,NM_017948 NOL8,NOL8,NOL8 EXON Missense_R812C,Silent,Missense_R880C exm761276 9 95076607 [A/G] NM_001256394,NR_046106,NM_017948 NOL8,NOL8,NOL8 EXON Missense_A699V,Silent,Missense_A767V exm761277 9 95076611 [T/C] NM_001256394,NR_046106,NM_017948 NOL8,NOL8,NOL8 EXON Missense_E698K,Silent,Missense_E766K exm761278 9 95076626 [A/G] NM_001256394,NR_046106,NM_017948 NOL8,NOL8,NOL8 EXON Missense_R693C,Silent,Missense_R761C exm761283 9 95076775 [C/G] NM_001256394,NR_046106,NM_017948 NOL8,NOL8,NOL8 EXON Missense_R643P,Silent,Missense_R711P exm761284 9 95076811 [T/C] NM_001256394,NR_046106,NM_017948 NOL8,NOL8,NOL8 EXON Missense_H631R,Silent,Missense_H699R exm2200714 9 95076907 [T/C] NM_001256394,NR_046106,NM_017948 NOL8,NOL8,NOL8 EXON Missense_R599K,Silent,Missense_R667K exm761296 9 95077000 [A/G] NM_001256394,NR_046106,NM_017948 NOL8,NOL8,NOL8 EXON Missense_A568V,Silent,Missense_A636V exm761301 9 95077126 [A/G] NM_001256394,NR_046106,NM_017948 NOL8,NOL8,NOL8 EXON Missense_A526V,Silent,Missense_A594V exm761302 9 95077177 [T/C] NM_001256394,NR_046106,NM_017948 NOL8,NOL8,NOL8 EXON Missense_G509D,Silent,Missense_G577D exm761303 9 95077202 [T/C] NM_001256394,NR_046106,NM_017948 NOL8,NOL8,NOL8 EXON Missense_K501E,Silent,Missense_K569E exm761308 9 95077288 [T/C] NM_001256394,NR_046106,NM_017948 NOL8,NOL8,NOL8 EXON Missense_R472H,Silent,Missense_R540H exm761312 9 95077470 [T/A] NM_001256394,NR_046106,NM_017948 NOL8,NOL8,NOL8 EXON Missense_K411N,Silent,Missense_K479N exm761314 9 95077498 [T/C] NM_001256394,NR_046106,NM_017948 NOL8,NOL8,NOL8 EXON Missense_G402E,Silent,Missense_G470E exm761316 9 95077513 [A/G] NM_001256394,NR_046106,NM_017948 NOL8,NOL8,NOL8 EXON Missense_L397S,Silent,Missense_L465S exm761317 9 95077604 [T/C] NM_001256394,NR_046106,NM_017948 NOL8,NOL8,NOL8 EXON Missense_E367K,Silent,Missense_E435K exm761318 9 95077688 [T/C] NM_001256394,NR_046106,NM_017948 NOL8,NOL8,NOL8 EXON Missense_T339A,Silent,Missense_T407A exm761319 9 95077691 [A/G] NM_001256394,NR_046106,NM_017948 NOL8,NOL8,NOL8 EXON Missense_S338P,Silent,Missense_S406P exm761322 9 95077882 [A/T] NM_001256394,NR_046106,NM_017948 NOL8,NOL8,NOL8 EXON Missense_K274I,Silent,Missense_K342I exm761325 9 95077969 [A/G] NM_001256394,NR_046106,NM_017948 NOL8,NOL8,NOL8 EXON Missense_A245V,Silent,Missense_A313V exm761327 9 95078092 [A/G] NM_001256394,NR_046106,NM_017948 NOL8,NOL8,NOL8 EXON Missense_V204A,Silent,Missense_V272A exm761334 9 95078413 [T/C] NM_001256394,NR_046106,NM_017948 NOL8,NOL8,NOL8 EXON Missense_K97R,Silent,Missense_K165R exm761353 9 95086352 [A/G] NM_001256394,NR_046106,NM_017948 NOL8,NOL8,NOL8 EXON Silent,Silent,Missense_F31S exm761375 9 95094474 [G/C] NM_001012267 CENPP EXON Missense_Q44E exm761379 9 95094559 [T/C] NM_001012267 CENPP EXON Missense_T72M exm761418 9 95142080 [A/G] NM_001012267 CENPP EXON Missense_R168Q exm761419 9 95142121 [T/C] NM_001012267 CENPP EXON Missense_R182C exm761420 9 95142122 [A/G] NM_001012267 CENPP EXON Missense_R182H exm761429 9 95148054 [T/C] NM_001012267,NM_033014,NM_014057 CENPP,OGN,OGN EXON Silent,Missense_I249V,Missense_I249V exm2259485 9 95155516 [T/C] NM_001012267,NM_033014,NM_014057 CENPP,OGN,OGN EXON Silent,Synonymous_T93T,Synonymous_T93T exm761453 9 95163372 [A/G] NM_001012267,NM_033014,NM_014057 CENPP,OGN,OGN Silent,Silent,Silent exm761462 9 95165611 [T/A] NM_001012267,NM_033014,NM_014057 CENPP,OGN,OGN EXON Silent,Missense_S27T,Missense_S27T exm761473 9 95177598 [T/C] NM_001012267,NM_005014 CENPP,OMD EXON Silent,Missense_T368A exm761474 9 95177627 [T/C] NM_001012267,NM_005014 CENPP,OMD EXON Silent,Missense_H358R exm761484 9 95178996 [A/G] NM_001012267,NM_005014 CENPP,OMD EXON Silent,Missense_I282T exm761488 9 95179071 [A/G] NM_001012267,NM_005014 CENPP,OMD EXON Silent,Missense_P257L exm761490 9 95179104 [T/G] NM_001012267,NM_005014 CENPP,OMD EXON Silent,Missense_S246Y exm761494 9 95179179 [T/C] NM_001012267,NM_005014 CENPP,OMD EXON Silent,Missense_S221N exm761504 9 95179435 [T/C] NM_001012267,NM_005014 CENPP,OMD EXON Silent,Missense_V136M exm761513 9 95179589 [G/C] NM_001012267,NM_005014 CENPP,OMD EXON Silent,Missense_K84N exm761516 9 95179704 [T/C] NM_001012267,NM_005014 CENPP,OMD EXON Silent,Missense_R46H exm761518 9 95179836 [A/C] NM_001012267,NM_005014 CENPP,OMD EXON Silent,Missense_G2V exm761527 9 95222775 [A/G] NM_001012267,NM_017680,NM_001193335 CENPP,ASPN,ASPN EXON Silent,Nonsense_R263X,Silent exm761528 9 95222777 [T/C] NM_001012267,NM_017680,NM_001193335 CENPP,ASPN,ASPN EXON Silent,Missense_K262R,Silent exm761532 9 95228663 [T/C] NM_001012267,NM_017680,NM_001193335 CENPP,ASPN,ASPN EXON Silent,Missense_G193E,Missense_G193E exm761533 9 95228676 [C/G] NM_001012267,NM_017680,NM_001193335 CENPP,ASPN,ASPN EXON Silent,Missense_D189H,Missense_D189H exm761549 9 95237027 [A/C] NM_001012267,NM_017680,NM_001193335 CENPP,ASPN,ASPN EXON Silent,Missense_D51E,Missense_D51E exm761550 9 95237030 [A/C] NM_001012267,NM_017680,NM_001193335 CENPP,ASPN,ASPN EXON Silent,Missense_D50E,Missense_D50E exm761558 9 95237064 [T/G] NM_001012267,NM_017680,NM_001193335 CENPP,ASPN,ASPN EXON Silent,Missense_D39A,Missense_D39A exm761564 9 95237091 [A/G] NM_001012267,NM_017680,NM_001193335 CENPP,ASPN,ASPN EXON Silent,Missense_M30T,Missense_M30T exm761573 9 95258653 [A/G] NM_001012267,NM_001197296,NM_001197295,NM_001393 CENPP,ECM2,ECM2,ECM2 EXON Silent,Silent,Missense_F660L,Missense_F682L exm2200781 9 95258739 [T/C] NM_001012267,NM_001197296,NM_001197295,NM_001393 CENPP,ECM2,ECM2,ECM2 EXON Silent,Silent,Missense_N631S,Missense_N653S exm761576 9 95263009 [T/C] NM_001012267,NM_001197296,NM_001197295,NM_001393 CENPP,ECM2,ECM2,ECM2 EXON Silent,Missense_R622H,Missense_R622Q,Missense_R644Q exm761577 9 95263010 [A/G] NM_001012267,NM_001197296,NM_001197295,NM_001393 CENPP,ECM2,ECM2,ECM2 EXON Silent,Missense_R622C,Missense_R622W,Missense_R644W exm761578 9 95263058 [T/G] NM_001012267,NM_001197296,NM_001197295,NM_001393 CENPP,ECM2,ECM2,ECM2 EXON Silent,Missense_Q606K,Missense_Q606K,Missense_Q628K exm761579 9 95263070 [A/G] NM_001012267,NM_001197296,NM_001197295,NM_001393 CENPP,ECM2,ECM2,ECM2 EXON Silent,Missense_P602S,Missense_P602S,Missense_P624S exm761582 9 95263129 [T/C] NM_001012267,NM_001197296,NM_001197295,NM_001393 CENPP,ECM2,ECM2,ECM2 EXON Silent,Missense_Y582C,Missense_Y582C,Missense_Y604C exm761585 9 95263179 [T/G] NM_001012267,NM_001197296,NM_001197295,NM_001393 CENPP,ECM2,ECM2,ECM2 EXON Silent,Nonsense_Y565X,Nonsense_Y565X,Nonsense_Y587X exm761586 9 95263216 [A/G] NM_001012267,NM_001197296,NM_001197295,NM_001393 CENPP,ECM2,ECM2,ECM2 EXON Silent,Missense_V553A,Missense_V553A,Missense_V575A exm761595 9 95264878 [T/A] NM_001012267,NM_001197296,NM_001197295,NM_001393 CENPP,ECM2,ECM2,ECM2 EXON Silent,Missense_H485Q,Missense_H485Q,Missense_H507Q exm761605 9 95272188 [A/C] NM_001012267,NM_001197296,NM_001197295,NM_001393 CENPP,ECM2,ECM2,ECM2 EXON Silent,Missense_S411R,Missense_S411R,Missense_S433R exm761608 9 95272214 [T/G] NM_001012267,NM_001197296,NM_001197295,NM_001393 CENPP,ECM2,ECM2,ECM2 EXON Silent,Missense_N403H,Missense_N403H,Missense_N425H exm761610 9 95272297 [T/C] NM_001012267,NM_001197296,NM_001197295,NM_001393 CENPP,ECM2,ECM2,ECM2 EXON Silent,Missense_R375H,Missense_R375H,Missense_R397H exm761611 9 95272301 [T/A] NM_001012267,NM_001197296,NM_001197295,NM_001393 CENPP,ECM2,ECM2,ECM2 EXON Silent,Missense_M374L,Missense_M374L,Missense_M396L exm761616 9 95274403 [A/G] NM_001012267,NM_001197296,NM_001197295,NM_001393 CENPP,ECM2,ECM2,ECM2 EXON Silent,Missense_S332P,Missense_S332P,Missense_S354P exm761617 9 95276937 [A/G] NM_001012267,NM_001197296,NM_001197295,NM_001393 CENPP,ECM2,ECM2,ECM2 EXON Silent,Nonsense_Q322X,Nonsense_Q322X,Nonsense_Q344X exm761619 9 95276951 [A/G] NM_001012267,NM_001197296,NM_001197295,NM_001393 CENPP,ECM2,ECM2,ECM2 EXON Silent,Missense_P317L,Missense_P317L,Missense_P339L exm761623 9 95277024 [A/G] NM_001012267,NM_001197296,NM_001197295,NM_001393 CENPP,ECM2,ECM2,ECM2 EXON Silent,Missense_R293C,Missense_R293C,Missense_R315C exm761624 9 95277032 [A/C] NM_001012267,NM_001197296,NM_001197295,NM_001393 CENPP,ECM2,ECM2,ECM2 EXON Silent,Missense_G290V,Missense_G290V,Missense_G312V exm761625 9 95277059 [T/C] NM_001012267,NM_001197296,NM_001197295,NM_001393 CENPP,ECM2,ECM2,ECM2 EXON Silent,Missense_R281Q,Missense_R281Q,Missense_R303Q exm761633 9 95277147 [C/G] NM_001012267,NM_001197296,NM_001197295,NM_001393 CENPP,ECM2,ECM2,ECM2 EXON Silent,Missense_D252H,Missense_D252H,Missense_D274H exm761634 9 95277171 [A/G] NM_001012267,NM_001197296,NM_001197295,NM_001393 CENPP,ECM2,ECM2,ECM2 EXON Silent,Missense_R244C,Missense_R244C,Missense_R266C exm761643 9 95277303 [T/C] NM_001012267,NM_001197296,NM_001197295,NM_001393 CENPP,ECM2,ECM2,ECM2 EXON Silent,Missense_E200K,Missense_E200K,Missense_E222K exm761648 9 95277356 [T/C] NM_001012267,NM_001197296,NM_001197295,NM_001393 CENPP,ECM2,ECM2,ECM2 EXON Silent,Missense_R182Q,Missense_R182Q,Missense_R204Q exm761649 9 95277362 [A/C] NM_001012267,NM_001197296,NM_001197295,NM_001393 CENPP,ECM2,ECM2,ECM2 EXON Silent,Missense_M180R,Missense_M180R,Missense_M202R exm761654 9 95279970 [A/G] NM_001012267,NM_001197296,NM_001197295,NM_001393 CENPP,ECM2,ECM2,ECM2 EXON Silent,Synonymous_T160T,Synonymous_T160T,Synonymous_T160T exm761656 9 95279986 [A/G] NM_001012267,NM_001197296,NM_001197295,NM_001393 CENPP,ECM2,ECM2,ECM2 EXON Silent,Missense_P155L,Missense_P155L,Missense_P155L exm761660 9 95280124 [G/C] NM_001012267,NM_001197296,NM_001197295,NM_001393 CENPP,ECM2,ECM2,ECM2 EXON Silent,Missense_T109S,Missense_T109S,Missense_T109S exm761666 9 95284982 [T/G] NM_001012267,NM_001197296,NM_001197295,NM_001393 CENPP,ECM2,ECM2,ECM2 EXON Silent,Missense_Q56P,Missense_Q56P,Missense_Q56P exm761677 9 95373624 [T/C] NM_001012267 CENPP EXON Missense_S198L exm761683 9 95373657 [A/G] NM_001012267 CENPP EXON Missense_R209H exm761685 9 95373663 [A/C] NM_001012267 CENPP EXON Missense_A211D exm761686 9 95373668 [T/C] NM_001012267 CENPP EXON Missense_R213W exm761692 9 95375333 [A/G] NM_001012267 CENPP EXON Missense_T257A exm761699 9 95375417 [C/G] NM_001012267 CENPP EXON Missense_E285Q exm761706 9 95378124 [T/C] NM_022755 IPPK EXON Missense_H489R exm761707 9 95378152 [T/C] NM_022755 IPPK EXON Missense_E480K exm2200808 9 95378176 [T/C] NM_022755 IPPK EXON Missense_A472T exm761711 9 95378199 [T/C] NM_022755 IPPK EXON Missense_K464R exm761716 9 95378254 [T/C] NM_022755 IPPK EXON Missense_E446K exm761728 9 95381802 [T/C] NM_022755,NR_036505 IPPK,LOC100128361 EXON Missense_M406V,Silent exm761733 9 95396712 [A/G] NM_022755 IPPK EXON Missense_L376F exm2274367 9 95400295 [A/G] NM_022755 IPPK EXON Missense_L302F exm761748 9 95400370 [A/G] NM_022755 IPPK EXON Missense_R277W exm761751 9 95400430 [T/C] NM_022755 IPPK EXON Missense_V257M exm761756 9 95400529 [A/G] NM_022755 IPPK EXON Missense_R224W exm761757 9 95400541 [A/C] NM_022755 IPPK EXON Missense_C220G exm761768 9 95411761 [A/G] NM_022755 IPPK EXON Missense_R130W exm761772 9 95411812 [T/C] NM_022755 IPPK EXON Missense_M113V exm761778 9 95414915 [T/C] NM_022755 IPPK EXON Missense_V78I exm761783 9 95420957 [T/C] NM_022755 IPPK EXON Missense_V30I exm-rs9969804 9 95429120 [A/C] NM_022755 IPPK Silent exm2200824 9 95432254 [A/G] NM_022755 IPPK EXON Missense_M6T exm761797 9 95477507 [T/C] NM_001003800,NM_015250 BICD2,BICD2 EXON Missense_D833N,Silent exm761798 9 95477535 [A/G] NM_001003800,NM_015250 BICD2,BICD2 EXON Synonymous_S823S,Synonymous_S823S exm761811 9 95477698 [A/G] NM_001003800,NM_015250 BICD2,BICD2 EXON Missense_A769V,Missense_A769V exm761822 9 95480915 [A/G] NM_001003800,NM_015250 BICD2,BICD2 EXON Missense_A671V,Missense_A671V exm761841 9 95481387 [T/C] NM_001003800,NM_015250 BICD2,BICD2 EXON Missense_G514S,Missense_G514S exm761854 9 95481540 [A/G] NM_001003800,NM_015250 BICD2,BICD2 EXON Missense_R463C,Missense_R463C exm761858 9 95481579 [A/G] NM_001003800,NM_015250 BICD2,BICD2 EXON Missense_R450C,Missense_R450C exm2277390 9 95481735 [T/G] NM_001003800,NM_015250 BICD2,BICD2 EXON Synonymous_R398R,Synonymous_R398R exm2200854 9 95481735 [A/G] NM_001003800,NM_015250 BICD2,BICD2 EXON Missense_R398W,Missense_R398W exm761863 9 95481748 [T/A] NM_001003800,NM_015250 BICD2,BICD2 EXON Missense_N393K,Missense_N393K exm2248434 9 95481810 [T/G] NM_001003800,NM_015250 BICD2,BICD2 EXON Missense_L373M,Missense_L373M exm761867 9 95481858 [A/G] NM_001003800,NM_015250 BICD2,BICD2 EXON Missense_R357W,Missense_R357W exm761872 9 95482665 [A/G] NM_001003800,NM_015250 BICD2,BICD2 EXON Missense_P327S,Missense_P327S exm761887 9 95483004 [A/G] NM_001003800,NM_015250 BICD2,BICD2 EXON Missense_R214C,Missense_R214C exm761903 9 95491490 [T/C] NM_001003800,NM_015250 BICD2,BICD2 EXON Missense_K90R,Missense_K90R exm2271113 9 95555939 [T/G] exm761935 9 95608581 [C/G] NM_001261460,NM_001261459,NM_001007101,NM_001261458,NM_031486 ZNF484,ZNF484,ZNF484,ZNF484,ZNF484 EXON Missense_V794L,Missense_V794L,Missense_V794L,Missense_V832L,Missense_V830L exm2200885 9 95608634 [C/G] NM_001261460,NM_001261459,NM_001007101,NM_001261458,NM_031486 ZNF484,ZNF484,ZNF484,ZNF484,ZNF484 EXON Missense_A776G,Missense_A776G,Missense_A776G,Missense_A814G,Missense_A812G exm761939 9 95608658 [T/C] NM_001261460,NM_001261459,NM_001007101,NM_001261458,NM_031486 ZNF484,ZNF484,ZNF484,ZNF484,ZNF484 EXON Missense_Y768C,Missense_Y768C,Missense_Y768C,Missense_Y806C,Missense_Y804C exm761940 9 95608740 [T/C] NM_001261460,NM_001261459,NM_001007101,NM_001261458,NM_031486 ZNF484,ZNF484,ZNF484,ZNF484,ZNF484 EXON Missense_I741V,Missense_I741V,Missense_I741V,Missense_I779V,Missense_I777V exm761942 9 95608767 [A/G] NM_001261460,NM_001261459,NM_001007101,NM_001261458,NM_031486 ZNF484,ZNF484,ZNF484,ZNF484,ZNF484 EXON Nonsense_R732X,Nonsense_R732X,Nonsense_R732X,Nonsense_R770X,Nonsense_R768X exm761944 9 95608778 [T/C] NM_001261460,NM_001261459,NM_001007101,NM_001261458,NM_031486 ZNF484,ZNF484,ZNF484,ZNF484,ZNF484 EXON Missense_H728R,Missense_H728R,Missense_H728R,Missense_H766R,Missense_H764R exm761949 9 95608973 [T/G] NM_001261460,NM_001261459,NM_001007101,NM_001261458,NM_031486 ZNF484,ZNF484,ZNF484,ZNF484,ZNF484 EXON Missense_K663T,Missense_K663T,Missense_K663T,Missense_K701T,Missense_K699T exm2259487 9 95609245 [A/G] NM_001261460,NM_001261459,NM_001007101,NM_001261458,NM_031486 ZNF484,ZNF484,ZNF484,ZNF484,ZNF484 EXON Synonymous_Y572Y,Synonymous_Y572Y,Synonymous_Y572Y,Synonymous_Y610Y,Synonymous_Y608Y exm761961 9 95609327 [A/C] NM_001261460,NM_001261459,NM_001007101,NM_001261458,NM_031486 ZNF484,ZNF484,ZNF484,ZNF484,ZNF484 EXON Missense_V545G,Missense_V545G,Missense_V545G,Missense_V583G,Missense_V581G exm761965 9 95609564 [T/C] NM_001261460,NM_001261459,NM_001007101,NM_001261458,NM_031486 ZNF484,ZNF484,ZNF484,ZNF484,ZNF484 EXON Missense_G466D,Missense_G466D,Missense_G466D,Missense_G504D,Missense_G502D exm761968 9 95609678 [T/C] NM_001261460,NM_001261459,NM_001007101,NM_001261458,NM_031486 ZNF484,ZNF484,ZNF484,ZNF484,ZNF484 EXON Missense_G428E,Missense_G428E,Missense_G428E,Missense_G466E,Missense_G464E exm761980 9 95610028 [C/G] NM_001261460,NM_001261459,NM_001007101,NM_001261458,NM_031486 ZNF484,ZNF484,ZNF484,ZNF484,ZNF484 EXON Missense_Q311H,Missense_Q311H,Missense_Q311H,Missense_Q349H,Missense_Q347H exm761984 9 95610063 [T/C] NM_001261460,NM_001261459,NM_001007101,NM_001261458,NM_031486 ZNF484,ZNF484,ZNF484,ZNF484,ZNF484 EXON Missense_A300T,Missense_A300T,Missense_A300T,Missense_A338T,Missense_A336T exm761989 9 95610263 [T/G] NM_001261460,NM_001261459,NM_001007101,NM_001261458,NM_031486 ZNF484,ZNF484,ZNF484,ZNF484,ZNF484 EXON Missense_H233P,Missense_H233P,Missense_H233P,Missense_H271P,Missense_H269P exm761994 9 95610300 [T/C] NM_001261460,NM_001261459,NM_001007101,NM_001261458,NM_031486 ZNF484,ZNF484,ZNF484,ZNF484,ZNF484 EXON Missense_V221I,Missense_V221I,Missense_V221I,Missense_V259I,Missense_V257I exm761996 9 95610312 [A/G] NM_001261460,NM_001261459,NM_001007101,NM_001261458,NM_031486 ZNF484,ZNF484,ZNF484,ZNF484,ZNF484 EXON Missense_F217L,Missense_F217L,Missense_F217L,Missense_F255L,Missense_F253L exm762009 9 95610670 [T/G] NM_001261460,NM_001261459,NM_001007101,NM_001261458,NM_031486 ZNF484,ZNF484,ZNF484,ZNF484,ZNF484 EXON Missense_N97K,Missense_N97K,Missense_N97K,Missense_N135K,Missense_N133K exm762011 9 95610753 [A/C] NM_001261460,NM_001261459,NM_001007101,NM_001261458,NM_031486 ZNF484,ZNF484,ZNF484,ZNF484,ZNF484 EXON Missense_F70V,Missense_F70V,Missense_F70V,Missense_F108V,Missense_F106V exm762015 9 95618101 [G/C] NM_001261460,NM_001261459,NM_001007101,NM_001261458,NM_031486 ZNF484,ZNF484,ZNF484,ZNF484,ZNF484 EXON Missense_S40T,Missense_S40T,Missense_S40T,Missense_S78T,Missense_S76T exm762042 9 95738810 [C/G] NM_001083536,NM_033086 FGD3,FGD3 EXON Missense_P91R,Missense_P91R exm762052 9 95738956 [A/C] NM_001083536,NM_033086 FGD3,FGD3 EXON Missense_P140T,Missense_P140T exm762053 9 95738957 [T/C] NM_001083536,NM_033086 FGD3,FGD3 EXON Missense_P140L,Missense_P140L exm762056 9 95765234 [A/G] NM_001083536,NM_033086 FGD3,FGD3 EXON Missense_I161V,Missense_I161V exm762067 9 95768419 [T/C] NM_001083536,NM_033086 FGD3,FGD3 EXON Missense_T265I,Missense_T265I exm762071 9 95768448 [A/G] NM_001083536,NM_033086 FGD3,FGD3 EXON Missense_V275I,Missense_V275I exm762075 9 95772600 [A/G] NM_001083536,NM_033086 FGD3,FGD3 EXON Missense_E304K,Missense_E304K exm762079 9 95772651 [T/C] NM_001083536,NM_033086 FGD3,FGD3 EXON Missense_R321W,Missense_R321W exm762081 9 95772666 [A/C] NM_001083536,NM_033086 FGD3,FGD3 EXON Synonymous_R326R,Synonymous_R326R exm762091 9 95776254 [A/T] NM_001083536,NM_033086 FGD3,FGD3 EXON Missense_T386S,Missense_T386S exm762093 9 95776262 [T/G] NM_001083536,NM_033086 FGD3,FGD3 EXON Missense_Q388H,Missense_Q388H exm762103 9 95780497 [A/G] NM_001083536,NM_033086 FGD3,FGD3 EXON Missense_R452Q,Missense_R452Q exm762108 9 95782680 [T/G] NM_001083536,NM_033086 FGD3,FGD3 EXON Missense_D490Y,Missense_D490Y exm762109 9 95782681 [A/C] NM_001083536,NM_033086 FGD3,FGD3 EXON Missense_D490A,Missense_D490A exm762110 9 95784613 [T/C] NM_001083536,NM_033086 FGD3,FGD3 EXON Missense_T500M,Missense_T500M exm762115 9 95784646 [T/C] NM_001083536,NM_033086 FGD3,FGD3 EXON Missense_T511I,Missense_T511I exm762117 9 95784671 [T/G] NM_001083536,NM_033086 FGD3,FGD3 EXON Synonymous_G519G,Synonymous_G519G exm762121 9 95792277 [T/C] NM_001083536,NM_033086 FGD3,FGD3 EXON Missense_A560V,Missense_A560V exm762122 9 95795055 [T/C] NM_001083536,NM_033086 FGD3,FGD3 EXON Missense_I562T,Missense_I562T exm762131 9 95796871 [T/C] NM_001083536,NM_033086 FGD3,FGD3 EXON Missense_R612W,Missense_R612W exm762132 9 95796906 [T/G] NM_001083536,NM_033086 FGD3,FGD3 EXON Synonymous_V623V,Synonymous_V623V exm762140 9 95797696 [T/C] NM_001083536,NM_033086 FGD3,FGD3 EXON Missense_S668L,Missense_S668L exm762144 9 95797755 [A/G] NM_001083536,NM_033086 FGD3,FGD3 EXON Missense_A688T,Missense_A688T exm2266850 9 95812707 [A/G] exm762166 9 95838156 [A/G] NM_145006 SUSD3 EXON Missense_R60H exm762169 9 95838255 [A/G] NM_145006 SUSD3 Silent exm762174 9 95840166 [A/G] NM_145006 SUSD3 EXON Missense_V106M exm762175 9 95840172 [A/G] NM_145006 SUSD3 EXON Missense_A108T exm762182 9 95840256 [A/G] NM_145006 SUSD3 EXON Missense_K136E exm762183 9 95840259 [T/C] NM_145006 SUSD3 EXON Missense_R137W exm762187 9 95841841 [A/G] NM_145006 SUSD3 EXON Missense_V172M exm762189 9 95841847 [A/G] NM_145006 SUSD3 EXON Missense_G174R exm762190 9 95841858 [T/G] NM_145006 SUSD3 EXON Missense_Q177H exm762194 9 95846859 [T/C] NM_145006 SUSD3 EXON Missense_R200C exm762195 9 95846865 [A/G] NM_145006 SUSD3 EXON Missense_V202M exm2200968 9 95846980 [A/G] NM_145006 SUSD3 EXON Missense_G240E exm762199 9 95847003 [T/C] NM_145006 SUSD3 EXON Nonsense_Q248X exm762210 9 95869989 [T/C] NM_032310 C9orf89 EXON Missense_T14M exm2259490 9 95870005 [A/C] NM_032310 C9orf89 EXON Synonymous_G19G exm762218 9 95872875 [A/G] NM_032310 C9orf89 EXON Missense_R59H exm762225 9 95872943 [T/C] NM_032310 C9orf89 EXON Nonsense_R82X exm2200976 9 95873003 [T/C] NM_032310 C9orf89 EXON Nonsense_Q102X exm762232 9 95873004 [A/G] NM_032310 C9orf89 Silent exm762235 9 95874218 [A/G] NM_032310 C9orf89 EXON Missense_R121K exm762236 9 95874220 [T/G] NM_032310 C9orf89 EXON Nonsense_G122X exm762242 9 95874559 [T/C] NM_032310 C9orf89 EXON Missense_C142R exm762245 9 95875300 [A/C] NM_032310 C9orf89 EXON Missense_R155S exm762272 9 95887281 [A/G] NM_004148 NINJ1 EXON Missense_T123M exm762289 9 95888817 [T/C] NM_004148 NINJ1 EXON Missense_N60S exm762291 9 95888872 [T/C] NM_004148 NINJ1 EXON Missense_A42T exm762310 9 95992044 [A/C] NM_006648 WNK2 EXON Missense_Q250K exm762313 9 95993170 [A/G] NM_006648 WNK2 EXON Synonymous_T285T exm762343 9 96010036 [A/G] NM_006648 WNK2 EXON Missense_G585E exm762345 9 96015165 [T/C] NM_006648 WNK2 EXON Missense_S612L exm762348 9 96015236 [A/G] NM_006648 WNK2 EXON Missense_M636V exm762361 9 96018584 [A/G] NM_006648 WNK2 EXON Missense_G680S exm762362 9 96018606 [T/C] NM_006648 WNK2 EXON Missense_P687L exm762381 9 96019399 [T/C] NM_006648 WNK2 EXON Missense_P787L exm2259491 9 96021254 [A/G] NM_006648 WNK2 EXON Synonymous_A808A exm762395 9 96021312 [A/G] NM_006648 WNK2 EXON Missense_V828M exm2248448 9 96021318 [A/C] NM_006648 WNK2 EXON Missense_P830T exm762399 9 96021375 [A/C] NM_006648 WNK2 EXON Missense_P849T exm762402 9 96021423 [T/C] NM_006648 WNK2 EXON Missense_P865S exm762406 9 96021553 [C/G] NM_006648 WNK2 EXON Missense_G908A exm762437 9 96021877 [T/C] NM_006648 WNK2 EXON Missense_A1016V exm762460 9 96024974 [T/C] NM_006648 WNK2 EXON Missense_P1128L exm762487 9 96030965 [T/C] NM_006648 WNK2 EXON Missense_P1324S exm762502 9 96051100 [T/C] NM_006648 WNK2 EXON Missense_S1355L exm762506 9 96051130 [A/C] NM_006648 WNK2 EXON Missense_Q1365P exm762507 9 96051131 [C/G] NM_006648 WNK2 EXON Missense_Q1365H exm762508 9 96051148 [T/C] NM_006648 WNK2 EXON Missense_A1371V exm2259493 9 96051149 [A/G] NM_006648 WNK2 EXON Synonymous_A1371A exm762514 9 96051262 [A/C] NM_006648 WNK2 EXON Missense_P1409Q exm762550 9 96054670 [A/G] NM_006648 WNK2 EXON Missense_V1673I exm762553 9 96054795 [A/C] NM_006648 WNK2 EXON Missense_P1683H exm762564 9 96054964 [G/C] NM_006648 WNK2 EXON Missense_S1739R exm762568 9 96054993 [T/C] NM_006648 WNK2 EXON Missense_S1749L exm762582 9 96055203 [T/C] NM_006648 WNK2 EXON Missense_P1819L exm762593 9 96055295 [A/G] NM_006648 WNK2 EXON Missense_A1850T exm2259494 9 96060313 [T/C] NM_006648 WNK2 EXON Synonymous_L1963L exm762620 9 96061517 [A/G] NM_006648 WNK2 EXON Missense_S2030N exm762629 9 96070669 [A/G] NM_006648 WNK2 EXON Missense_V2107I exm2248449 9 96070859 [T/C] NM_006648 WNK2 EXON Missense_A2170V exm762667 9 96080699 [T/C] NM_006648,NM_001098808 WNK2,C9orf129 EXON Silent,Missense_R191H exm762669 9 96080729 [A/G] NM_006648,NM_001098808 WNK2,C9orf129 EXON Silent,Missense_P181L exm762672 9 96080763 [A/G] NM_006648,NM_001098808 WNK2,C9orf129 EXON Silent,Nonsense_Q170X exm762673 9 96080765 [A/G] NM_006648,NM_001098808 WNK2,C9orf129 EXON Silent,Missense_A169V exm762674 9 96080783 [T/C] NM_006648,NM_001098808 WNK2,C9orf129 EXON Silent,Missense_R163Q exm2264371 9 96145271 [A/C] exm762708 9 96209933 [A/G] NM_198841 FAM120AOS EXON Missense_T244I exm762709 9 96209943 [T/C] NM_198841 FAM120AOS EXON Missense_K241E exm762710 9 96209957 [T/C] NM_198841 FAM120AOS EXON Missense_N236S exm762721 9 96212852 [A/C] NM_198841 FAM120AOS EXON Missense_R198L exm762766 9 96259789 [A/G] NM_014612 FAM120A EXON Missense_V281I exm762771 9 96261102 [A/C] NM_014612 FAM120A EXON Missense_K322Q exm762801 9 96291782 [A/G] NM_014612 FAM120A EXON Missense_A552T exm762806 9 96294510 [A/G] NM_014612 FAM120A EXON Missense_R603K exm762834 9 96320239 [T/C] NM_014612 FAM120A EXON Missense_P872L exm762895 9 96398726 [T/C] NM_005392 PHF2 EXON Missense_P73L exm2259496 9 96407983 [T/C] NM_005392 PHF2 EXON Synonymous_T124T exm2266851 9 96415899 [A/G] NM_005392 PHF2 Silent exm762940 9 96418875 [A/G] NM_005392 PHF2 EXON Missense_K382R exm762948 9 96422489 [A/G] NM_005392 PHF2 EXON Missense_V449I exm762951 9 96422528 [A/G] NM_005392 PHF2 EXON Missense_V462M exm762955 9 96422583 [T/C] NM_005392 PHF2 EXON Missense_P480L exm762991 9 96428329 [T/C] NM_005392 PHF2 EXON Missense_S725L exm2201184 9 96428334 [A/G] NM_005392 PHF2 EXON Missense_A727T exm2259497 9 96429418 [G/C] NM_005392 PHF2 EXON Synonymous_G748G exm763012 9 96435940 [A/G] NM_005392 PHF2 EXON Missense_D808N exm763015 9 96436037 [A/G] NM_005392 PHF2 EXON Missense_S840N exm763025 9 96437286 [A/G] NM_005392 PHF2 EXON Missense_A902T exm763026 9 96437970 [A/G] NM_005392 PHF2 EXON Missense_G911S exm763030 9 96438030 [A/G] NM_005392 PHF2 EXON Missense_E931K exm2201204 9 96439143 [A/G] NM_005392 PHF2 EXON Missense_G1034R exm763057 9 96439216 [T/C] NM_005392 PHF2 EXON Missense_S1058L exm763072 9 96714529 [C/G] NM_021570 BARX1 EXON Missense_L228V exm763073 9 96714547 [T/C] NM_021570 BARX1 EXON Missense_I222V exm763075 9 96714579 [A/G] NM_021570 BARX1 EXON Missense_T211I exm763104 9 96846815 [A/G] NM_177995,NM_001253830,NM_152422,NM_001253829 PTPDC1,PTPDC1,PTPDC1,PTPDC1 EXON Silent,Silent,Missense_M1I,Missense_M1I exm763107 9 96846852 [T/C] NM_177995,NM_001253830,NM_152422,NM_001253829 PTPDC1,PTPDC1,PTPDC1,PTPDC1 EXON Silent,Silent,Missense_R14C,Missense_R14C exm763115 9 96847544 [T/C] NM_177995,NM_001253830,NM_152422,NM_001253829 PTPDC1,PTPDC1,PTPDC1,PTPDC1 EXON Missense_R32C,Missense_R32C,Missense_R84C,Missense_R86C exm763118 9 96847599 [G/C] NM_177995,NM_001253830,NM_152422,NM_001253829 PTPDC1,PTPDC1,PTPDC1,PTPDC1 EXON Missense_G50A,Missense_G50A,Missense_G102A,Missense_G104A exm763136 9 96857621 [T/G] NM_177995,NM_001253830,NM_152422,NM_001253829 PTPDC1,PTPDC1,PTPDC1,PTPDC1 EXON Missense_W159C,Missense_W159C,Missense_W211C,Missense_W213C exm763137 9 96857637 [A/G] NM_177995,NM_001253830,NM_152422,NM_001253829 PTPDC1,PTPDC1,PTPDC1,PTPDC1 EXON Missense_A165T,Missense_A165T,Missense_A217T,Missense_A219T exm763144 9 96857730 [C/G] NM_177995,NM_001253830,NM_152422,NM_001253829 PTPDC1,PTPDC1,PTPDC1,PTPDC1 EXON Missense_R196G,Missense_R196G,Missense_R248G,Missense_R250G exm763151 9 96859692 [T/A] NM_177995,NM_001253830,NM_152422,NM_001253829 PTPDC1,PTPDC1,PTPDC1,PTPDC1 EXON Missense_I228L,Missense_I228L,Missense_I280L,Missense_I282L exm763169 9 96859989 [A/G] NM_177995,NM_001253830,NM_152422,NM_001253829 PTPDC1,PTPDC1,PTPDC1,PTPDC1 EXON Missense_M327V,Missense_M327V,Missense_M379V,Missense_M381V exm763171 9 96860037 [T/G] NM_177995,NM_001253830,NM_152422,NM_001253829 PTPDC1,PTPDC1,PTPDC1,PTPDC1 EXON Missense_V343L,Missense_V343L,Missense_V395L,Missense_V397L exm763177 9 96860142 [A/G] NM_177995,NM_001253830,NM_152422,NM_001253829 PTPDC1,PTPDC1,PTPDC1,PTPDC1 EXON Missense_V378I,Missense_V378I,Missense_V430I,Missense_V432I exm763182 9 96860214 [A/G] NM_177995,NM_001253830,NM_152422,NM_001253829 PTPDC1,PTPDC1,PTPDC1,PTPDC1 EXON Missense_E402K,Missense_E402K,Missense_E454K,Missense_E456K exm763188 9 96860435 [A/C] NM_177995,NM_001253830,NM_152422,NM_001253829 PTPDC1,PTPDC1,PTPDC1,PTPDC1 EXON Missense_F475L,Missense_F475L,Missense_F527L,Missense_F529L exm763193 9 96860599 [T/A] NM_177995,NM_001253830,NM_152422,NM_001253829 PTPDC1,PTPDC1,PTPDC1,PTPDC1 EXON Missense_H530L,Missense_H530L,Missense_H582L,Missense_H584L exm763198 9 96860691 [A/G] NM_177995,NM_001253830,NM_152422,NM_001253829 PTPDC1,PTPDC1,PTPDC1,PTPDC1 EXON Missense_V561I,Missense_V561I,Missense_V613I,Missense_V615I exm763199 9 96860692 [T/A] NM_177995,NM_001253830,NM_152422,NM_001253829 PTPDC1,PTPDC1,PTPDC1,PTPDC1 EXON Missense_V561D,Missense_V561D,Missense_V613D,Missense_V615D exm763200 9 96860722 [A/T] NM_177995,NM_001253830,NM_152422,NM_001253829 PTPDC1,PTPDC1,PTPDC1,PTPDC1 EXON Missense_L571Q,Missense_L571Q,Missense_L623Q,Missense_L625Q exm763204 9 96860820 [A/G] NM_177995,NM_001253830,NM_152422,NM_001253829 PTPDC1,PTPDC1,PTPDC1,PTPDC1 EXON Missense_V604I,Missense_V604I,Missense_V656I,Missense_V658I exm763210 9 96863980 [A/C] NM_177995,NM_001253830,NM_152422,NM_001253829 PTPDC1,PTPDC1,PTPDC1,PTPDC1 EXON Missense_M662L,Missense_M657L,Missense_M714L,Missense_M716L exm763212 9 96864019 [T/C] NM_177995,NM_001253830,NM_152422,NM_001253829 PTPDC1,PTPDC1,PTPDC1,PTPDC1 EXON Missense_F675L,Missense_F670L,Missense_F727L,Missense_F729L exm763223 9 96870198 [T/C] NM_177995,NM_001253830,NM_152422,NM_001253829 PTPDC1,PTPDC1,PTPDC1,PTPDC1 EXON Missense_T746I,Missense_T741I,Missense_T798I,Missense_T800I exm-rs1257763 9 96893945 [A/G] exm763238 9 97055310 [T/C] NM_194320 ZNF169 EXON Missense_P72L exm763240 9 97055327 [A/G] NM_194320 ZNF169 EXON Missense_E78K exm763246 9 97062138 [A/G] NM_194320 ZNF169 EXON Missense_A100T exm763249 9 97062194 [G/C] NM_194320 ZNF169 EXON Missense_Q118H exm2201258 9 97062283 [A/G] NM_194320 ZNF169 EXON Missense_G148D exm763253 9 97062295 [T/C] NM_194320 ZNF169 EXON Missense_S152L exm763256 9 97062400 [A/G] NM_194320 ZNF169 EXON Missense_R187H exm763257 9 97062413 [T/G] NM_194320 ZNF169 EXON Missense_R191S exm763269 9 97062622 [T/C] NM_194320 ZNF169 EXON Missense_P261L exm763274 9 97062677 [A/G] NM_194320 ZNF169 EXON Missense_I279M exm763276 9 97062729 [T/C] NM_194320 ZNF169 EXON Nonsense_R297X exm763279 9 97062780 [A/G] NM_194320 ZNF169 EXON Missense_G314R exm763280 9 97062813 [T/C] NM_194320 ZNF169 EXON Nonsense_R325X exm763281 9 97062852 [A/T] NM_194320 ZNF169 EXON Missense_R338W exm763287 9 97062949 [A/G] NM_194320 ZNF169 EXON Missense_G370E exm763290 9 97062981 [T/C] NM_194320 ZNF169 EXON Missense_R381C exm763297 9 97063177 [T/C] NM_194320 ZNF169 EXON Missense_I446T exm763304 9 97063348 [A/G] NM_194320 ZNF169 EXON Missense_R503Q exm2201271 9 97063425 [T/C] NM_194320 ZNF169 EXON Missense_L529F exm763314 9 97063628 [C/G] NM_194320 ZNF169 EXON Missense_Q596H exm763455 9 97207354 [T/C] NM_032558 HIATL1 EXON Missense_L207F exm763456 9 97207424 [C/G] NM_032558 HIATL1 EXON Missense_W230S exm763464 9 97213778 [G/C] NM_032558 HIATL1 EXON Missense_A295G exm763482 9 97220646 [A/G] NM_032558 HIATL1 EXON Missense_N390S exm2266852 9 97221434 [A/G] NM_032558 HIATL1 Silent exm763488 9 97221450 [T/C] NM_032558 HIATL1 EXON Missense_V426A exm763495 9 97221572 [A/G] NM_032558 HIATL1 EXON Missense_G467S exm-rs16910061 9 97314741 [A/G] exm763503 9 97321221 [T/C] NM_003837 FBP2 EXON Missense_X340W exm763510 9 97321374 [A/G] NM_003837 FBP2 EXON Missense_I289T exm763514 9 97321401 [T/C] NM_003837 FBP2 EXON Missense_Y280C exm763515 9 97321404 [A/G] NM_003837 FBP2 EXON Missense_L279P exm763525 9 97329587 [A/T] NM_003837 FBP2 EXON Missense_T224S exm763526 9 97329610 [T/C] NM_003837 FBP2 EXON Missense_Y216C exm763527 9 97329625 [T/C] NM_003837 FBP2 EXON Missense_S211N exm2262703 9 97333275 [A/G] NM_003837 FBP2 Silent exm763534 9 97333814 [A/G] NM_003837 FBP2 EXON Missense_A166V exm763535 9 97333815 [T/C] NM_003837 FBP2 EXON Missense_A166T exm763536 9 97333824 [T/C] NM_003837 FBP2 EXON Missense_A163T exm763540 9 97346888 [T/C] NM_003837 FBP2 EXON Missense_I133V exm763572 9 97365742 [T/C] NM_000507,NM_001127628 FBP1,FBP1 EXON Missense_Q313R,Missense_Q313R exm763575 9 97365815 [A/T] NM_000507,NM_001127628 FBP1,FBP1 EXON Missense_M289L,Missense_M289L exm763579 9 97367746 [T/C] NM_000507,NM_001127628 FBP1,FBP1 EXON Missense_N273S,Missense_N273S exm763582 9 97367819 [T/G] NM_000507,NM_001127628 FBP1,FBP1 EXON Missense_M249L,Missense_M249L exm763583 9 97367834 [A/G] NM_000507,NM_001127628 FBP1,FBP1 EXON Missense_R244W,Missense_R244W exm763585 9 97369132 [T/C] NM_000507,NM_001127628 FBP1,FBP1 EXON Missense_V224I,Missense_V224I exm763586 9 97369149 [T/C] NM_000507,NM_001127628 FBP1,FBP1 EXON Missense_R218K,Missense_R218K exm763600 9 97382621 [A/G] NM_000507,NM_001127628 FBP1,FBP1 EXON Missense_P108L,Missense_P108L exm763601 9 97382637 [T/C] NM_000507,NM_001127628 FBP1,FBP1 EXON Missense_A103T,Missense_A103T exm763605 9 97382669 [A/G] NM_000507,NM_001127628 FBP1,FBP1 EXON Missense_T92M,Missense_T92M exm763617 9 97522077 [T/G] NM_001193331,NM_032823,NM_001193329 C9orf3,C9orf3,C9orf3 EXON Missense_Q4H,Missense_Q4H,Missense_Q4H exm763619 9 97522117 [A/G] NM_001193331,NM_032823,NM_001193329 C9orf3,C9orf3,C9orf3 EXON Missense_T18A,Missense_T18A,Missense_T18A exm763625 9 97522373 [A/G] NM_001193331,NM_032823,NM_001193329 C9orf3,C9orf3,C9orf3 EXON Missense_S103N,Missense_S103N,Missense_S103N exm763626 9 97522376 [A/T] NM_001193331,NM_032823,NM_001193329 C9orf3,C9orf3,C9orf3 EXON Missense_K104I,Missense_K104I,Missense_K104I exm763634 9 97522600 [A/G] NM_001193331,NM_032823,NM_001193329 C9orf3,C9orf3,C9orf3 EXON Missense_V179I,Missense_V179I,Missense_V179I exm763643 9 97522735 [A/G] NM_001193331,NM_032823,NM_001193329 C9orf3,C9orf3,C9orf3 EXON Missense_T224A,Missense_T224A,Missense_T224A exm763644 9 97522750 [T/A] NM_001193331,NM_032823,NM_001193329 C9orf3,C9orf3,C9orf3 EXON Missense_I229L,Missense_I229L,Missense_I229L exm763647 9 97522829 [A/G] NM_001193331,NM_032823,NM_001193329 C9orf3,C9orf3,C9orf3 EXON Missense_R255Q,Missense_R255Q,Missense_R255Q exm763648 9 97522832 [T/C] NM_001193331,NM_032823,NM_001193329 C9orf3,C9orf3,C9orf3 EXON Missense_S256L,Missense_S256L,Missense_S256L exm763650 9 97522864 [T/G] NM_001193331,NM_032823,NM_001193329 C9orf3,C9orf3,C9orf3 Silent,Silent,Silent exm763655 9 97535381 [T/C] NM_001193331,NM_032823,NM_001193329 C9orf3,C9orf3,C9orf3 EXON Nonsense_R299X,Nonsense_R299X,Nonsense_R299X exm763656 9 97535396 [T/C] NM_001193331,NM_032823,NM_001193329 C9orf3,C9orf3,C9orf3 EXON Missense_F304L,Missense_F304L,Missense_F304L exm763667 9 97563076 [T/C] NM_001193331,NM_032823,NM_001193329 C9orf3,C9orf3,C9orf3 EXON Missense_R386C,Missense_R386C,Missense_R386C exm763669 9 97563146 [T/C] NM_001193331,NM_032823,NM_001193329 C9orf3,C9orf3,C9orf3 EXON Missense_T409M,Missense_T409M,Missense_T409M exm763687 9 97717515 [A/G] NM_032823,NM_001193329 C9orf3,C9orf3 EXON Missense_H474R,Missense_H573R exm763690 9 97718205 [T/C] NM_032823,NM_001193329 C9orf3,C9orf3 EXON Missense_R495W,Missense_R594W exm-rs3802458 9 97741274 [A/G] NM_032823,NM_001193329 C9orf3,C9orf3 Silent,Silent exm763702 9 97767455 [T/C] NM_032823,NM_001193329 C9orf3,C9orf3 EXON Missense_R566C,Missense_R665C exm763707 9 97767823 [A/G] NM_032823,NM_001193329 C9orf3,C9orf3 Silent,Silent exm763708 9 97767834 [A/G] NM_032823,NM_001193329 C9orf3,C9orf3 EXON Nonsense_W585X,Nonsense_W684X exm763709 9 97767870 [T/G] NM_032823,NM_001193329 C9orf3,C9orf3 EXON Missense_R597L,Missense_R696L exm763730 9 97823033 [A/C] NM_032823,NM_001193329 C9orf3,C9orf3 EXON Missense_S626R,Missense_S725R exm763734 9 97843013 [A/G] NM_032823,NM_001193329 C9orf3,C9orf3 EXON Missense_K658R,Missense_K757R exm763745 9 97844861 [T/C] NM_032823,NM_001193329 C9orf3,C9orf3 EXON Missense_M676T,Missense_M775T exm763754 9 97844938 [T/C] NM_032823,NM_001193329 C9orf3,C9orf3 EXON Missense_R702W,Missense_R801W exm763755 9 97844939 [A/G] NM_032823,NM_001193329 C9orf3,C9orf3 EXON Missense_R702Q,Missense_R801Q exm763757 9 97844959 [A/G] NM_032823,NM_001193329 C9orf3,C9orf3 EXON Missense_R709G,Missense_R808G exm763759 9 97844993 [T/C] NM_032823,NM_001193329 C9orf3,C9orf3 EXON Missense_F720S,Missense_F819S exm763779 9 97864024 [A/G] NM_000136,NM_001243743 FANCC,FANCC EXON Nonsense_R548X,Nonsense_R548X exm763785 9 97869467 [T/C] NM_000136,NM_001243743 FANCC,FANCC EXON Missense_G472R,Missense_G472R exm763786 9 97869487 [T/C] NM_000136,NM_001243743 FANCC,FANCC EXON Missense_Q465R,Missense_Q465R exm763787 9 97869507 [T/G] NM_000136,NM_001243743 FANCC,FANCC EXON Missense_R458S,Missense_R458S exm763790 9 97869536 [T/C] NM_000136,NM_001243743 FANCC,FANCC EXON Missense_V449M,Missense_V449M exm763800 9 97873833 [A/G] NM_000136,NM_001243743,NM_001243744 FANCC,FANCC,FANCC EXON Missense_S414L,Missense_S414L,Missense_S414L exm763803 9 97873918 [A/G] NM_000136,NM_001243743,NM_001243744 FANCC,FANCC,FANCC EXON Missense_S386P,Missense_S386P,Missense_S386P exm763809 9 97879672 [C/G] NM_000136,NM_001243743,NM_001243744 FANCC,FANCC,FANCC EXON Missense_L333V,Missense_L333V,Missense_L333V exm763813 9 97887391 [T/C] NM_000136,NM_001243743,NM_001243744 FANCC,FANCC,FANCC EXON Missense_A325T,Missense_A325T,Missense_A325T exm763814 9 97887430 [T/C] NM_000136,NM_001243743,NM_001243744 FANCC,FANCC,FANCC EXON Missense_I312V,Missense_I312V,Missense_I312V exm763825 9 97897654 [T/C] NM_000136,NM_001243743,NM_001243744 FANCC,FANCC,FANCC EXON Missense_E273K,Missense_E273K,Missense_E273K exm763827 9 97897671 [T/C] NM_000136,NM_001243743,NM_001243744 FANCC,FANCC,FANCC EXON Missense_N267S,Missense_N267S,Missense_N267S exm763837 9 97912307 [A/T] NM_000136,NM_001243743,NM_001243744 FANCC,FANCC,FANCC EXON Missense_D195V,Missense_D195V,Missense_D195V exm763839 9 97912338 [A/G] NM_000136,NM_001243743,NM_001243744 FANCC,FANCC,FANCC EXON Nonsense_R185X,Nonsense_R185X,Nonsense_R185X exm763848 9 97934359 [T/C] NM_000136,NM_001243743,NM_001243744 FANCC,FANCC,FANCC EXON Missense_G139E,Missense_G139E,Missense_G139E exm2264350 9 97959500 [A/C] NM_000136,NM_001243743,NM_001243744 FANCC,FANCC,FANCC Silent,Silent,Silent exm763860 9 98009786 [T/C] NM_000136,NM_001243743,NM_001243744 FANCC,FANCC,FANCC EXON Missense_V60I,Missense_V60I,Missense_V60I exm763864 9 98011497 [A/G] NM_000136,NM_001243743,NM_001243744 FANCC,FANCC,FANCC EXON Missense_S26F,Missense_S26F,Missense_S26F exm763865 9 98011545 [T/C] NM_000136,NM_001243743,NM_001243744 FANCC,FANCC,FANCC EXON Missense_C10Y,Missense_C10Y,Missense_C10Y exm763871 9 98209213 [T/C] NM_001083605,NM_001083606,NM_001083604,NM_001083607,NM_000264,NM_001083603,NM_001083602 PTCH1,PTCH1,PTCH1,PTCH1,PTCH1,PTCH1,PTCH1 EXON Missense_R1291Q,Missense_R1291Q,Missense_R1291Q,Missense_R1291Q,Missense_R1442Q,Missense_R1441Q,Missense_R1376Q exm763872 9 98209214 [A/G] NM_001083605,NM_001083606,NM_001083604,NM_001083607,NM_000264,NM_001083603,NM_001083602 PTCH1,PTCH1,PTCH1,PTCH1,PTCH1,PTCH1,PTCH1 EXON Missense_R1291W,Missense_R1291W,Missense_R1291W,Missense_R1291W,Missense_R1442W,Missense_R1441W,Missense_R1376W exm2248464 9 98209286 [T/C] NM_001083605,NM_001083606,NM_001083604,NM_001083607,NM_000264,NM_001083603,NM_001083602 PTCH1,PTCH1,PTCH1,PTCH1,PTCH1,PTCH1,PTCH1 EXON Missense_V1267I,Missense_V1267I,Missense_V1267I,Missense_V1267I,Missense_V1418I,Missense_V1417I,Missense_V1352I exm763879 9 98209298 [T/C] NM_001083605,NM_001083606,NM_001083604,NM_001083607,NM_000264,NM_001083603,NM_001083602 PTCH1,PTCH1,PTCH1,PTCH1,PTCH1,PTCH1,PTCH1 EXON Missense_V1263M,Missense_V1263M,Missense_V1263M,Missense_V1263M,Missense_V1414M,Missense_V1413M,Missense_V1348M exm763882 9 98209319 [T/C] NM_001083605,NM_001083606,NM_001083604,NM_001083607,NM_000264,NM_001083603,NM_001083602 PTCH1,PTCH1,PTCH1,PTCH1,PTCH1,PTCH1,PTCH1 EXON Missense_G1256S,Missense_G1256S,Missense_G1256S,Missense_G1256S,Missense_G1407S,Missense_G1406S,Missense_G1341S exm763895 9 98209490 [A/G] NM_001083605,NM_001083606,NM_001083604,NM_001083607,NM_000264,NM_001083603,NM_001083602 PTCH1,PTCH1,PTCH1,PTCH1,PTCH1,PTCH1,PTCH1 EXON Missense_R1199W,Missense_R1199W,Missense_R1199W,Missense_R1199W,Missense_R1350W,Missense_R1349W,Missense_R1284W exm763903 9 98209591 [T/C] NM_001083605,NM_001083606,NM_001083604,NM_001083607,NM_000264,NM_001083603,NM_001083602 PTCH1,PTCH1,PTCH1,PTCH1,PTCH1,PTCH1,PTCH1 EXON Missense_Y1165C,Missense_Y1165C,Missense_Y1165C,Missense_Y1165C,Missense_Y1316C,Missense_Y1315C,Missense_Y1250C exm763904 9 98209594 [A/G] NM_001083605,NM_001083606,NM_001083604,NM_001083607,NM_000264,NM_001083603,NM_001083602 PTCH1,PTCH1,PTCH1,PTCH1,PTCH1,PTCH1,PTCH1 EXON Missense_P1164L,Missense_P1164L,Missense_P1164L,Missense_P1164L,Missense_P1315L,Missense_P1314L,Missense_P1249L exm763914 9 98209693 [A/G] NM_001083605,NM_001083606,NM_001083604,NM_001083607,NM_000264,NM_001083603,NM_001083602 PTCH1,PTCH1,PTCH1,PTCH1,PTCH1,PTCH1,PTCH1 EXON Missense_P1131L,Missense_P1131L,Missense_P1131L,Missense_P1131L,Missense_P1282L,Missense_P1281L,Missense_P1216L exm763922 9 98211389 [T/C] NM_001083605,NM_001083606,NM_001083604,NM_001083607,NM_000264,NM_001083603,NM_001083602 PTCH1,PTCH1,PTCH1,PTCH1,PTCH1,PTCH1,PTCH1 EXON Missense_V1105M,Missense_V1105M,Missense_V1105M,Missense_V1105M,Missense_V1256M,Missense_V1255M,Missense_V1190M exm763927 9 98211463 [A/G] NM_001083605,NM_001083606,NM_001083604,NM_001083607,NM_000264,NM_001083603,NM_001083602 PTCH1,PTCH1,PTCH1,PTCH1,PTCH1,PTCH1,PTCH1 EXON Missense_V1080A,Missense_V1080A,Missense_V1080A,Missense_V1080A,Missense_V1231A,Missense_V1230A,Missense_V1165A exm763943 9 98212185 [T/C] NM_001083605,NM_001083606,NM_001083604,NM_001083607,NM_000264,NM_001083603,NM_001083602 PTCH1,PTCH1,PTCH1,PTCH1,PTCH1,PTCH1,PTCH1 EXON Missense_G1012S,Missense_G1012S,Missense_G1012S,Missense_G1012S,Missense_G1163S,Missense_G1162S,Missense_G1097S exm763948 9 98215833 [T/C] NM_001083605,NM_001083606,NM_001083604,NM_001083607,NM_000264,NM_001083603,NM_001083602 PTCH1,PTCH1,PTCH1,PTCH1,PTCH1,PTCH1,PTCH1 EXON Missense_V975I,Missense_V975I,Missense_V975I,Missense_V975I,Missense_V1126I,Missense_V1125I,Missense_V1060I exm763960 9 98220308 [A/G] NM_001083605,NM_001083606,NM_001083604,NM_001083607,NM_000264,NM_001083603,NM_001083602 PTCH1,PTCH1,PTCH1,PTCH1,PTCH1,PTCH1,PTCH1 EXON Missense_T901M,Missense_T901M,Missense_T901M,Missense_T901M,Missense_T1052M,Missense_T1051M,Missense_T986M exm763986 9 98224161 [T/C] NM_001083605,NM_001083606,NM_001083604,NM_001083607,NM_000264,NM_001083603,NM_001083602 PTCH1,PTCH1,PTCH1,PTCH1,PTCH1,PTCH1,PTCH1 EXON Missense_D743N,Missense_D743N,Missense_D743N,Missense_D743N,Missense_D894N,Missense_D893N,Missense_D828N exm2201478 9 98224163 [T/C] NM_001083605,NM_001083606,NM_001083604,NM_001083607,NM_000264,NM_001083603,NM_001083602 PTCH1,PTCH1,PTCH1,PTCH1,PTCH1,PTCH1,PTCH1 EXON Missense_R742H,Missense_R742H,Missense_R742H,Missense_R742H,Missense_R893H,Missense_R892H,Missense_R827H exm763995 9 98229473 [T/C] NM_001083605,NM_001083606,NM_001083604,NM_001083607,NM_000264,NM_001083603,NM_001083602,NR_038982 PTCH1,PTCH1,PTCH1,PTCH1,PTCH1,PTCH1,PTCH1,LOC100507346 EXON Missense_V678M,Missense_V678M,Missense_V678M,Missense_V678M,Missense_V829M,Missense_V828M,Missense_V763M,Silent exm2201488 9 98229479 [T/C] NM_001083605,NM_001083606,NM_001083604,NM_001083607,NM_000264,NM_001083603,NM_001083602,NR_038982 PTCH1,PTCH1,PTCH1,PTCH1,PTCH1,PTCH1,PTCH1,LOC100507346 EXON Missense_S676G,Missense_S676G,Missense_S676G,Missense_S676G,Missense_S827G,Missense_S826G,Missense_S761G,Silent exm-rs16909898 9 98231008 [A/G] NM_001083605,NM_001083606,NM_001083604,NM_001083607,NM_000264,NM_001083603,NM_001083602,NR_038982 PTCH1,PTCH1,PTCH1,PTCH1,PTCH1,PTCH1,PTCH1,LOC100507346 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm764004 9 98231061 [A/G] NM_001083605,NM_001083606,NM_001083604,NM_001083607,NM_000264,NM_001083603,NM_001083602,NR_038982 PTCH1,PTCH1,PTCH1,PTCH1,PTCH1,PTCH1,PTCH1,LOC100507346 EXON Missense_A590V,Missense_A590V,Missense_A590V,Missense_A590V,Missense_A741V,Missense_A740V,Missense_A675V,Silent exm764005 9 98231067 [A/T] NM_001083605,NM_001083606,NM_001083604,NM_001083607,NM_000264,NM_001083603,NM_001083602,NR_038982 PTCH1,PTCH1,PTCH1,PTCH1,PTCH1,PTCH1,PTCH1,LOC100507346 EXON Missense_H588L,Missense_H588L,Missense_H588L,Missense_H588L,Missense_H739L,Missense_H738L,Missense_H673L,Silent exm764006 9 98231068 [A/G] NM_001083605,NM_001083606,NM_001083604,NM_001083607,NM_000264,NM_001083603,NM_001083602,NR_038982 PTCH1,PTCH1,PTCH1,PTCH1,PTCH1,PTCH1,PTCH1,LOC100507346 EXON Missense_H588Y,Missense_H588Y,Missense_H588Y,Missense_H588Y,Missense_H739Y,Missense_H738Y,Missense_H673Y,Silent exm764008 9 98231100 [A/G] NM_001083605,NM_001083606,NM_001083604,NM_001083607,NM_000264,NM_001083603,NM_001083602,NR_038982 PTCH1,PTCH1,PTCH1,PTCH1,PTCH1,PTCH1,PTCH1,LOC100507346 EXON Missense_T577M,Missense_T577M,Missense_T577M,Missense_T577M,Missense_T728M,Missense_T727M,Missense_T662M,Silent exm764011 9 98231110 [A/G] NM_001083605,NM_001083606,NM_001083604,NM_001083607,NM_000264,NM_001083603,NM_001083602,NR_038982 PTCH1,PTCH1,PTCH1,PTCH1,PTCH1,PTCH1,PTCH1,LOC100507346 EXON Missense_P574S,Missense_P574S,Missense_P574S,Missense_P574S,Missense_P725S,Missense_P724S,Missense_P659S,Silent exm764021 9 98231233 [T/C] NM_001083605,NM_001083606,NM_001083604,NM_001083607,NM_000264,NM_001083603,NM_001083602,NR_038982 PTCH1,PTCH1,PTCH1,PTCH1,PTCH1,PTCH1,PTCH1,LOC100507346 EXON Missense_E533K,Missense_E533K,Missense_E533K,Missense_E533K,Missense_E684K,Missense_E683K,Missense_E618K,Silent exm764028 9 98231370 [T/C] NM_001083605,NM_001083606,NM_001083604,NM_001083607,NM_000264,NM_001083603,NM_001083602,NR_038982 PTCH1,PTCH1,PTCH1,PTCH1,PTCH1,PTCH1,PTCH1,LOC100507346 EXON Missense_R487H,Missense_R487H,Missense_R487H,Missense_R487H,Missense_R638H,Missense_R637H,Missense_R572H,Silent exm764035 9 98232134 [T/C] NM_001083605,NM_001083606,NM_001083604,NM_001083607,NM_000264,NM_001083603,NM_001083602,NR_038982 PTCH1,PTCH1,PTCH1,PTCH1,PTCH1,PTCH1,PTCH1,LOC100507346 EXON Missense_R452H,Missense_R452H,Missense_R452H,Missense_R452H,Missense_R603H,Missense_R602H,Missense_R537H,Silent exm764067 9 98240378 [T/C] NM_001083605,NM_001083606,NM_001083604,NM_001083607,NM_000264,NM_001083603,NM_001083602 PTCH1,PTCH1,PTCH1,PTCH1,PTCH1,PTCH1,PTCH1 EXON Missense_D285N,Missense_D285N,Missense_D285N,Missense_D285N,Missense_D436N,Missense_D435N,Missense_D370N exm2201509 9 98240437 [C/G] NM_001083605,NM_001083606,NM_001083604,NM_001083607,NM_000264,NM_001083603,NM_001083602 PTCH1,PTCH1,PTCH1,PTCH1,PTCH1,PTCH1,PTCH1 EXON Missense_T265S,Missense_T265S,Missense_T265S,Missense_T265S,Missense_T416S,Missense_T415S,Missense_T350S exm764072 9 98241314 [T/C] NM_001083605,NM_001083606,NM_001083604,NM_001083607,NM_000264,NM_001083603,NM_001083602 PTCH1,PTCH1,PTCH1,PTCH1,PTCH1,PTCH1,PTCH1 EXON Missense_I244V,Missense_I244V,Missense_I244V,Missense_I244V,Missense_I395V,Missense_I394V,Missense_I329V exm764097 9 98244249 [A/G] NM_001083605,NM_001083606,NM_001083604,NM_001083607,NM_000264,NM_001083603,NM_001083602 PTCH1,PTCH1,PTCH1,PTCH1,PTCH1,PTCH1,PTCH1 EXON Missense_S92F,Missense_S92F,Missense_S92F,Missense_S92F,Missense_S243F,Missense_S242F,Missense_S177F exm764108 9 98248052 [T/C] NM_001083605,NM_001083606,NM_001083604,NM_001083607,NM_000264,NM_001083603,NM_001083602 PTCH1,PTCH1,PTCH1,PTCH1,PTCH1,PTCH1,PTCH1 EXON Missense_A16T,Missense_A16T,Missense_A16T,Missense_A16T,Missense_A167T,Missense_A166T,Missense_A101T exm-rs10512248 9 98259703 [T/G] NM_001083605,NM_001083606,NM_001083604,NM_001083607,NM_000264,NM_001083603,NM_001083602 PTCH1,PTCH1,PTCH1,PTCH1,PTCH1,PTCH1,PTCH1 Silent,Silent,Silent,Silent,Silent,Silent,Silent exm764139 9 98278972 [T/C] NM_001083603,NM_001083602 PTCH1,PTCH1 EXON Missense_E44G,Silent exm-rs17370391 9 98319969 [T/C] exm2271207 9 98340320 [T/G] exm-rs10818991 9 98367717 [T/C] exm-rs10990303 9 98410405 [T/C] exm2271114 9 98482261 [T/G] exm764179 9 98638306 [T/C] NM_001010895 ERCC6L2 EXON Missense_P7S exm764182 9 98638328 [A/C] NM_001010895 ERCC6L2 EXON Missense_P14Q exm764186 9 98643264 [A/G] NM_001010895 ERCC6L2 EXON Missense_V65I exm764187 9 98643267 [T/G] NM_001010895 ERCC6L2 EXON Missense_L66V exm764193 9 98643483 [G/C] NM_001010895 ERCC6L2 EXON Missense_Q138E exm764194 9 98643511 [A/G] NM_001010895 ERCC6L2 EXON Missense_G147E exm764202 9 98660173 [T/C] NM_001010895 ERCC6L2 EXON Missense_R183C exm764225 9 98678657 [T/C] NM_001010895 ERCC6L2 EXON Missense_W378R exm764227 9 98678698 [C/G] NM_001010895 ERCC6L2 EXON Missense_L391F exm764232 9 98683545 [T/C] NM_001010895 ERCC6L2 EXON Missense_S427F exm764233 9 98683550 [A/C] NM_001010895 ERCC6L2 EXON Missense_P429T exm764237 9 98684662 [T/G] NM_001010895 ERCC6L2 EXON Missense_V470F exm764238 9 98684665 [A/G] NM_001010895 ERCC6L2 EXON Missense_A471T exm764239 9 98684666 [T/C] NM_001010895 ERCC6L2 EXON Missense_A471V exm764250 9 98691137 [T/C] NM_001010895 ERCC6L2 EXON Missense_V592A exm2248471 9 98703768 [T/C] NM_001010895 ERCC6L2 EXON Missense_A606V exm764257 9 98718278 [T/C] NM_001010895 ERCC6L2 EXON Nonsense_R655X exm2248472 9 98718284 [A/G] NM_001010895 ERCC6L2 EXON Missense_I657V exm2266853 9 98794679 [A/G] exm764359 9 99007634 [A/G] NM_000197 HSD17B3 EXON Missense_A200V exm764372 9 99015141 [T/C] NM_000197 HSD17B3 EXON Missense_D110G exm764375 9 99015166 [A/T] NM_000197 HSD17B3 EXON Missense_I102F exm764376 9 99015193 [G/C] NM_000197 HSD17B3 Silent exm764378 9 99017151 [A/G] NM_000197 HSD17B3 EXON Synonymous_I92I exm764406 9 99064254 [A/G] NM_000197 HSD17B3 EXON Missense_R45W exm764407 9 99064296 [T/C] NM_000197 HSD17B3 EXON Missense_V31I exm2259504 9 99064315 [A/G] NM_000197 HSD17B3 EXON Synonymous_C24C exm764424 9 99086387 [T/C] NM_007001 SLC35D2 EXON Missense_V273I exm764425 9 99086398 [A/G] NM_007001 SLC35D2 EXON Missense_T269M exm764429 9 99086450 [A/G] NM_007001 SLC35D2 EXON Missense_F252L exm764457 9 99122479 [A/C] NM_007001 SLC35D2 EXON Missense_V102F exm2201632 9 99126757 [T/A] NM_007001 SLC35D2 EXON Missense_I90F exm764482 9 99154698 [A/G] NM_153695 ZNF367 EXON Missense_A271V exm764558 9 99250477 [A/G] NM_014282 HABP4 EXON Missense_R369H exm2201663 9 99250506 [T/C] NM_014282 HABP4 EXON Missense_R379W exm764572 9 99272034 [A/G] NM_033331,NM_001077181,NM_003671 CDC14B,CDC14B,CDC14B EXON Missense_S461P,Missense_S424P,Silent exm2259505 9 99280421 [A/G] NM_033331,NM_001077181,NM_003671 CDC14B,CDC14B,CDC14B Silent,Silent,Silent exm764578 9 99284821 [T/C] NM_033331,NM_001077181,NM_003671 CDC14B,CDC14B,CDC14B EXON Missense_R437K,Missense_R400K,Missense_R437K exm764579 9 99284837 [A/G] NM_033331,NM_001077181,NM_003671 CDC14B,CDC14B,CDC14B EXON Missense_R432W,Missense_R395W,Missense_R432W exm764598 9 99296250 [A/G] NM_033331,NM_001077181,NM_003671 CDC14B,CDC14B,CDC14B EXON Missense_I302T,Missense_I265T,Missense_I302T exm764599 9 99296286 [A/G] NM_033331,NM_001077181,NM_003671 CDC14B,CDC14B,CDC14B EXON Missense_T290I,Missense_T253I,Missense_T290I exm2201674 9 99296298 [A/G] NM_033331,NM_001077181,NM_003671 CDC14B,CDC14B,CDC14B EXON Missense_A286V,Missense_A249V,Missense_A286V exm764614 9 99325064 [T/C] NM_033331,NM_001077181,NM_003671 CDC14B,CDC14B,CDC14B EXON Missense_I111V,Missense_I74V,Missense_I111V exm2271208 9 99330052 [T/C] NM_033331,NM_003671 CDC14B,CDC14B Silent,Silent exm764637 9 99404115 [T/C] NM_153698 AAED1 EXON Missense_I203V exm764638 9 99404124 [G/C] NM_153698 AAED1 EXON Missense_H200D exm764639 9 99404131 [A/C] NM_153698 AAED1 EXON Missense_R197S exm764644 9 99408181 [G/C] NM_153698 AAED1 EXON Missense_G183R exm764651 9 99408308 [T/C] NM_153698 AAED1 Silent exm764655 9 99413728 [T/C] NM_153698 AAED1 EXON Missense_E122G exm2201710 9 99413954 [T/G] NM_153698 AAED1 EXON Missense_Y101S exm764662 9 99417000 [T/C] NM_153698 AAED1 EXON Missense_R83K exm764673 9 99521119 [A/G] NM_014930 ZNF510 EXON Missense_C665R exm764675 9 99521136 [T/C] NM_014930 ZNF510 EXON Missense_N659S exm764676 9 99521137 [T/G] NM_014930 ZNF510 EXON Missense_N659H exm764679 9 99521190 [A/G] NM_014930 ZNF510 EXON Missense_S641L exm764680 9 99521211 [T/C] NM_014930 ZNF510 EXON Missense_G634E exm764692 9 99521334 [A/G] NM_014930 ZNF510 EXON Missense_I593T exm764695 9 99521347 [T/C] NM_014930 ZNF510 EXON Missense_V589M exm764696 9 99521355 [T/G] NM_014930 ZNF510 EXON Missense_T586N exm764705 9 99521430 [T/C] NM_014930 ZNF510 EXON Missense_Q561R exm764707 9 99521480 [T/G] NM_014930 ZNF510 EXON Nonsense_Y544X exm764708 9 99521484 [G/C] NM_014930 ZNF510 EXON Missense_T543S exm764717 9 99521725 [T/G] NM_014930 ZNF510 EXON Missense_N463H exm764726 9 99521890 [T/C] NM_014930 ZNF510 EXON Missense_E408K exm764728 9 99521909 [T/C] NM_014930 ZNF510 EXON Missense_M401I exm764729 9 99521920 [G/C] NM_014930 ZNF510 EXON Missense_H398D exm764731 9 99521929 [A/G] NM_014930 ZNF510 EXON Nonsense_R395X exm764735 9 99521963 [A/C] NM_014930 ZNF510 EXON Missense_K383N exm764743 9 99522293 [G/C] NM_014930 ZNF510 EXON Missense_N273K exm764746 9 99522404 [A/C] NM_014930 ZNF510 EXON Missense_N236K exm764749 9 99522502 [T/C] NM_014930 ZNF510 EXON Missense_G204S exm764750 9 99522508 [T/C] NM_014930 ZNF510 EXON Missense_G202S exm764754 9 99522706 [A/G] NM_014930 ZNF510 EXON Missense_H136Y exm764757 9 99525487 [A/G] NM_014930 ZNF510 EXON Missense_C89R exm764758 9 99525494 [A/C] NM_014930 ZNF510 EXON Synonymous_G86G exm764760 9 99525805 [T/C] NM_014930 ZNF510 EXON Missense_S80N exm764766 9 99537071 [T/C] NM_014930 ZNF510 EXON Missense_Q43R exm764768 9 99537117 [A/G] NM_014930 ZNF510 EXON Missense_R28W exm764774 9 99538347 [A/G] NM_014930 ZNF510 EXON Missense_S2L exm-rs10816533 9 99539138 [C/G] NM_014930 ZNF510 Silent exm2248484 9 99580257 [A/G] NM_001001662 ZNF782 EXON Missense_F683S exm764779 9 99580314 [T/G] NM_001001662 ZNF782 EXON Missense_H664P exm764797 9 99580834 [A/C] NM_001001662 ZNF782 EXON Missense_S491A exm764799 9 99580855 [T/C] NM_001001662 ZNF782 EXON Missense_G484R exm2248485 9 99580881 [A/T] NM_001001662 ZNF782 EXON Missense_E475V exm2248486 9 99580984 [C/G] NM_001001662 ZNF782 EXON Missense_Q441E exm764813 9 99581107 [T/C] NM_001001662 ZNF782 EXON Missense_G400R exm764814 9 99581179 [A/G] NM_001001662 ZNF782 EXON Missense_S376P exm764815 9 99581182 [A/G] NM_001001662 ZNF782 EXON Missense_C375R exm764817 9 99581208 [T/C] NM_001001662 ZNF782 EXON Missense_Y366C exm2248487 9 99581334 [A/G] NM_001001662 ZNF782 EXON Missense_T324I exm764822 9 99581343 [T/C] NM_001001662 ZNF782 EXON Missense_R321H exm764823 9 99581344 [A/G] NM_001001662 ZNF782 EXON Missense_R321C exm764829 9 99581440 [T/C] NM_001001662 ZNF782 EXON Missense_T289A exm764831 9 99581493 [T/C] NM_001001662 ZNF782 EXON Missense_Y271C exm764834 9 99581568 [T/C] NM_001001662 ZNF782 EXON Missense_N246S exm764839 9 99581650 [G/C] NM_001001662 ZNF782 EXON Missense_E219Q exm764841 9 99581676 [G/C] NM_001001662 ZNF782 EXON Missense_T210S exm764846 9 99581811 [T/C] NM_001001662 ZNF782 EXON Missense_R165H exm764850 9 99581867 [G/C] NM_001001662 ZNF782 EXON Missense_Q146H exm764857 9 99581991 [A/G] NM_001001662 ZNF782 EXON Missense_L105S exm764858 9 99582006 [T/C] NM_001001662 ZNF782 EXON Missense_H100R exm2271209 9 99606529 [T/C] NM_001001662 ZNF782 Silent exm764988 9 99797839 [A/C] NM_001201575,NM_001333 CTSL2,CTSL2 EXON Missense_G253V,Missense_G253V exm764990 9 99797876 [T/C] NM_001201575,NM_001333 CTSL2,CTSL2 EXON Missense_A241T,Missense_A241T exm2201784 9 99797908 [A/G] NM_001201575,NM_001333 CTSL2,CTSL2 EXON Missense_P230L,Missense_P230L exm765001 9 99798864 [C/G] NM_001201575,NM_001333 CTSL2,CTSL2 EXON Missense_Q188E,Missense_Q188E exm765004 9 99798927 [C/G] NM_001201575,NM_001333 CTSL2,CTSL2 EXON Missense_V167L,Missense_V167L exm765006 9 99798969 [A/G] NM_001201575,NM_001333 CTSL2,CTSL2 EXON Missense_R153W,Missense_R153W exm765075 9 100070367 [A/C] NR_036528,NR_036529,NR_036527,NM_020893 LOC100499484-C9ORF174,LOC100499484-C9ORF174,LOC100499484-C9ORF174,C9orf174 EXON Silent,Silent,Silent,Missense_T52P exm765077 9 100070388 [A/G] NR_036528,NR_036529,NR_036527,NM_020893 LOC100499484-C9ORF174,LOC100499484-C9ORF174,LOC100499484-C9ORF174,C9orf174 EXON Silent,Silent,Silent,Missense_A59T exm765095 9 100074450 [A/G] NR_036528,NR_036529,NR_036527,NM_020893 LOC100499484-C9ORF174,LOC100499484-C9ORF174,LOC100499484-C9ORF174,C9orf174 EXON Silent,Silent,Silent,Missense_A150T exm765101 9 100075554 [A/G] NR_036528,NR_036529,NR_036527,NM_020893 LOC100499484-C9ORF174,LOC100499484-C9ORF174,LOC100499484-C9ORF174,C9orf174 EXON Silent,Silent,Silent,Missense_Q173R exm765106 9 100076751 [A/G] NR_036528,NR_036529,NR_036527,NM_020893 LOC100499484-C9ORF174,LOC100499484-C9ORF174,LOC100499484-C9ORF174,C9orf174 EXON Silent,Silent,Silent,Missense_R223H exm765112 9 100077000 [A/G] NR_036528,NR_036529,NR_036527,NM_020893 LOC100499484-C9ORF174,LOC100499484-C9ORF174,LOC100499484-C9ORF174,C9orf174 EXON Silent,Silent,Silent,Missense_R274Q exm765116 9 100077149 [A/G] NR_036528,NR_036529,NR_036527,NM_020893 LOC100499484-C9ORF174,LOC100499484-C9ORF174,LOC100499484-C9ORF174,C9orf174 EXON Silent,Silent,Silent,Missense_K283R exm765118 9 100077190 [T/C] NR_036528,NR_036529,NR_036527,NM_020893 LOC100499484-C9ORF174,LOC100499484-C9ORF174,LOC100499484-C9ORF174,C9orf174 EXON Silent,Silent,Silent,Missense_R297W exm765123 9 100079386 [A/G] NR_036528,NR_036529,NR_036527,NM_020893 LOC100499484-C9ORF174,LOC100499484-C9ORF174,LOC100499484-C9ORF174,C9orf174 EXON Silent,Silent,Silent,Missense_A323T exm765124 9 100079440 [T/C] NR_036528,NR_036529,NR_036527,NM_020893 LOC100499484-C9ORF174,LOC100499484-C9ORF174,LOC100499484-C9ORF174,C9orf174 EXON Silent,Silent,Silent,Missense_R341C exm765129 9 100080780 [T/C] NR_036528,NR_036529,NR_036527,NM_020893 LOC100499484-C9ORF174,LOC100499484-C9ORF174,LOC100499484-C9ORF174,C9orf174 EXON Silent,Silent,Silent,Missense_P376L exm765132 9 100080796 [C/G] NR_036528,NR_036529,NR_036527,NM_020893 LOC100499484-C9ORF174,LOC100499484-C9ORF174,LOC100499484-C9ORF174,C9orf174 EXON Silent,Silent,Silent,Missense_E381D exm765133 9 100080823 [C/G] NR_036528,NR_036529,NR_036527,NM_020893 LOC100499484-C9ORF174,LOC100499484-C9ORF174,LOC100499484-C9ORF174,C9orf174 EXON Silent,Silent,Silent,Missense_N390K exm765135 9 100080857 [T/A] NR_036528,NR_036529,NR_036527,NM_020893 LOC100499484-C9ORF174,LOC100499484-C9ORF174,LOC100499484-C9ORF174,C9orf174 EXON Silent,Silent,Silent,Missense_T402S exm765137 9 100082422 [G/C] NR_036528,NR_036529,NR_036527,NM_020893 LOC100499484-C9ORF174,LOC100499484-C9ORF174,LOC100499484-C9ORF174,C9orf174 EXON Silent,Silent,Silent,Missense_P409R exm765145 9 100085148 [A/G] NR_036528,NR_036529,NR_036527,NM_020893 LOC100499484-C9ORF174,LOC100499484-C9ORF174,LOC100499484-C9ORF174,C9orf174 EXON Silent,Silent,Silent,Missense_R442H exm765155 9 100087432 [A/G] NR_036528,NR_036529,NR_036527,NM_020893 LOC100499484-C9ORF174,LOC100499484-C9ORF174,LOC100499484-C9ORF174,C9orf174 EXON Silent,Silent,Silent,Synonymous_K545K exm2259039 9 100087432 [A/G] NR_036528,NR_036529,NR_036527,NM_020893 LOC100499484-C9ORF174,LOC100499484-C9ORF174,LOC100499484-C9ORF174,C9orf174 EXON Silent,Silent,Silent,Synonymous_K545K exm765173 9 100092656 [A/C] NR_036528,NR_036529,NR_036527,NM_020893 LOC100499484-C9ORF174,LOC100499484-C9ORF174,LOC100499484-C9ORF174,C9orf174 EXON Silent,Silent,Silent,Missense_Q671H exm765182 9 100092918 [C/G] NR_036528,NR_036529,NR_036527,NM_020893 LOC100499484-C9ORF174,LOC100499484-C9ORF174,LOC100499484-C9ORF174,C9orf174 EXON Silent,Silent,Silent,Missense_G759R exm765196 9 100105638 [A/G] NR_036528,NR_036529,NR_036527,NM_020893 LOC100499484-C9ORF174,LOC100499484-C9ORF174,LOC100499484-C9ORF174,C9orf174 EXON Silent,Silent,Silent,Missense_E808G exm765201 9 100105782 [C/G] NR_036528,NR_036529,NR_036527,NM_020893 LOC100499484-C9ORF174,LOC100499484-C9ORF174,LOC100499484-C9ORF174,C9orf174 EXON Silent,Silent,Silent,Missense_S856C exm765203 9 100105814 [T/C] NR_036528,NR_036529,NR_036527,NM_020893 LOC100499484-C9ORF174,LOC100499484-C9ORF174,LOC100499484-C9ORF174,C9orf174 EXON Silent,Silent,Silent,Missense_P867S exm765204 9 100105818 [T/C] NR_036528,NR_036529,NR_036527,NM_020893 LOC100499484-C9ORF174,LOC100499484-C9ORF174,LOC100499484-C9ORF174,C9orf174 EXON Silent,Silent,Silent,Missense_S868L exm2247271 9 100109681 [A/C] NR_036528,NR_036529,NR_036527,NM_020893 LOC100499484-C9ORF174,LOC100499484-C9ORF174,LOC100499484-C9ORF174,C9orf174 EXON Silent,Silent,Silent,Missense_N906H exm765207 9 100112770 [T/C] NR_036528,NR_036529,NR_036527,NM_020893 LOC100499484-C9ORF174,LOC100499484-C9ORF174,LOC100499484-C9ORF174,C9orf174 EXON Silent,Silent,Silent,Missense_R1023W exm765214 9 100116970 [A/G] NR_036528,NR_036529,NR_036527,NM_020893 LOC100499484-C9ORF174,LOC100499484-C9ORF174,LOC100499484-C9ORF174,C9orf174 EXON Silent,Silent,Silent,Missense_K1085R exm765215 9 100116971 [T/G] NR_036528,NR_036529,NR_036527,NM_020893 LOC100499484-C9ORF174,LOC100499484-C9ORF174,LOC100499484-C9ORF174,C9orf174 EXON Silent,Silent,Silent,Missense_K1085N exm765224 9 100122291 [T/C] NR_036528,NR_036529,NR_036527,NM_020893 LOC100499484-C9ORF174,LOC100499484-C9ORF174,LOC100499484-C9ORF174,C9orf174 EXON Silent,Silent,Silent,Missense_F1175L exm765233 9 100124123 [A/G] NR_036528,NR_036529,NR_036527,NM_020893 LOC100499484-C9ORF174,LOC100499484-C9ORF174,LOC100499484-C9ORF174,C9orf174 EXON Silent,Silent,Silent,Missense_R1244H exm765244 9 100124555 [C/G] NR_036528,NR_036529,NR_036527,NM_020893 LOC100499484-C9ORF174,LOC100499484-C9ORF174,LOC100499484-C9ORF174,C9orf174 EXON Silent,Silent,Silent,Missense_G1289A exm765255 9 100126340 [T/C] NR_036528,NR_036529,NR_036527,NM_020893 LOC100499484-C9ORF174,LOC100499484-C9ORF174,LOC100499484-C9ORF174,C9orf174 EXON Silent,Silent,Silent,Missense_P1348S exm765261 9 100128003 [C/G] NR_036528,NR_036529,NR_036527,NM_020893 LOC100499484-C9ORF174,LOC100499484-C9ORF174,LOC100499484-C9ORF174,C9orf174 EXON Silent,Silent,Silent,Missense_N1387K exm765265 9 100128850 [T/C] NR_036528,NR_036529,NR_036527,NM_020893 LOC100499484-C9ORF174,LOC100499484-C9ORF174,LOC100499484-C9ORF174,C9orf174 EXON Silent,Silent,Silent,Missense_R1397C exm-rs4366181 9 100130345 [T/C] NR_036528,NR_036529,NR_036527,NM_020893 LOC100499484-C9ORF174,LOC100499484-C9ORF174,LOC100499484-C9ORF174,C9orf174 Silent,Silent,Silent,Silent exm765283 9 100132347 [T/C] NR_036528,NR_036529,NR_036527,NM_020893 LOC100499484-C9ORF174,LOC100499484-C9ORF174,LOC100499484-C9ORF174,C9orf174 EXON Silent,Silent,Silent,Missense_R1489W exm765300 9 100133877 [G/C] NR_036528,NR_036529,NR_036527,NM_020893 LOC100499484-C9ORF174,LOC100499484-C9ORF174,LOC100499484-C9ORF174,C9orf174 EXON Silent,Silent,Silent,Missense_E1541Q exm765301 9 100133893 [A/G] NR_036528,NR_036529,NR_036527,NM_020893 LOC100499484-C9ORF174,LOC100499484-C9ORF174,LOC100499484-C9ORF174,C9orf174 EXON Silent,Silent,Silent,Missense_N1546S exm765304 9 100133931 [A/G] NR_036528,NR_036529,NR_036527,NM_020893 LOC100499484-C9ORF174,LOC100499484-C9ORF174,LOC100499484-C9ORF174,C9orf174 EXON Silent,Silent,Silent,Missense_E1559K exm765306 9 100133973 [A/G] NR_036528,NR_036529,NR_036527,NM_020893 LOC100499484-C9ORF174,LOC100499484-C9ORF174,LOC100499484-C9ORF174,C9orf174 EXON Silent,Silent,Silent,Missense_D1573N exm765310 9 100136854 [A/G] NR_036528,NR_036529,NR_036527,NM_020893 LOC100499484-C9ORF174,LOC100499484-C9ORF174,LOC100499484-C9ORF174,C9orf174 EXON Silent,Silent,Silent,Missense_M1588V exm765320 9 100137761 [A/G] NR_036528,NR_036529,NR_036527,NM_020893 LOC100499484-C9ORF174,LOC100499484-C9ORF174,LOC100499484-C9ORF174,C9orf174 EXON Silent,Silent,Silent,Missense_E1622K exm765326 9 100137855 [A/G] NR_036528,NR_036529,NR_036527,NM_020893 LOC100499484-C9ORF174,LOC100499484-C9ORF174,LOC100499484-C9ORF174,C9orf174 EXON Silent,Silent,Silent,Missense_R1653Q exm765332 9 100139105 [A/G] NR_036528,NR_036529,NR_036527,NM_020893 LOC100499484-C9ORF174,LOC100499484-C9ORF174,LOC100499484-C9ORF174,C9orf174 EXON Silent,Silent,Silent,Missense_I1679V exm765333 9 100139120 [T/C] NR_036528,NR_036529,NR_036527,NM_020893 LOC100499484-C9ORF174,LOC100499484-C9ORF174,LOC100499484-C9ORF174,C9orf174 EXON Silent,Silent,Silent,Missense_R1684C exm765345 9 100190936 [C/G] NM_014290 TDRD7 EXON Missense_E63D exm765350 9 100193302 [T/C] NM_014290 TDRD7 EXON Missense_R99C exm765355 9 100194348 [A/G] NM_014290 TDRD7 EXON Missense_N131D exm765357 9 100194394 [A/G] NM_014290 TDRD7 EXON Missense_K146R exm765359 9 100194406 [T/C] NM_014290 TDRD7 EXON Missense_V150A exm2274370 9 100194431 [A/G] NM_014290 TDRD7 EXON Missense_M158I exm765361 9 100194441 [A/G] NM_014290 TDRD7 EXON Missense_M162V exm2259040 9 100201542 [A/G] NM_014290 TDRD7 EXON Synonymous_A193A exm765367 9 100201585 [A/G] NM_014290 TDRD7 EXON Missense_T208A exm765375 9 100204156 [T/C] NM_014290 TDRD7 EXON Missense_T285M exm2178609 9 100222560 [T/C] NM_014290 TDRD7 EXON Missense_S319F exm765392 9 100222909 [T/G] NM_014290 TDRD7 EXON Missense_L435F exm765412 9 100232904 [T/C] NM_014290 TDRD7 EXON Missense_P565L exm765431 9 100240811 [A/G] NM_014290 TDRD7 EXON Missense_I753V exm765437 9 100243146 [A/G] NM_014290 TDRD7 EXON Missense_I780V exm765441 9 100245182 [A/C] NM_014290 TDRD7 EXON Missense_P822T exm765442 9 100245206 [T/C] NM_014290 TDRD7 EXON Missense_R830C exm765443 9 100245207 [A/G] NM_014290 TDRD7 EXON Missense_R830H exm765445 9 100245219 [A/G] NM_014290 TDRD7 EXON Missense_R834H exm765450 9 100245383 [A/G] NM_014290 TDRD7 EXON Missense_M889V exm765453 9 100245401 [A/G] NM_014290 TDRD7 EXON Missense_A895T exm765454 9 100245509 [T/C] NM_014290 TDRD7 EXON Missense_P931S exm2178642 9 100249542 [A/G] NM_014290 TDRD7 EXON Missense_I1002V exm765459 9 100249548 [A/G] NM_014290 TDRD7 EXON Missense_K1004E exm765467 9 100286484 [A/G] NM_001166116,NM_003275 TMOD1,TMOD1 EXON Missense_R5Q,Missense_R5Q exm2266856 9 100307493 [A/G] NM_001166116,NM_003275 TMOD1,TMOD1 Silent,Silent exm765470 9 100308517 [A/G] NM_001166116,NM_003275 TMOD1,TMOD1 EXON Synonymous_A57A,Synonymous_A57A exm2259041 9 100308517 [A/G] NM_001166116,NM_003275 TMOD1,TMOD1 EXON Synonymous_A57A,Synonymous_A57A exm765477 9 100325015 [A/G] NM_001166116,NM_003275 TMOD1,TMOD1 EXON Synonymous_A133A,Synonymous_A133A exm765481 9 100325102 [T/C] NM_001166116,NM_003275 TMOD1,TMOD1 EXON Synonymous_N162N,Synonymous_N162N exm765483 9 100326321 [T/C] NM_001166116,NM_003275 TMOD1,TMOD1 EXON Synonymous_S163S,Synonymous_S163S exm765490 9 100326403 [A/C] NM_001166116,NM_003275 TMOD1,TMOD1 EXON Missense_K191Q,Missense_K191Q exm765514 9 100364783 [T/C] NM_139246 TSTD2 EXON Missense_D507N exm765515 9 100364786 [T/G] NM_139246 TSTD2 EXON Missense_P506T exm765518 9 100364842 [T/C] NM_139246 TSTD2 EXON Missense_R487H exm765523 9 100364900 [A/C] NM_139246 TSTD2 EXON Missense_S468A exm765528 9 100365004 [C/G] NM_139246 TSTD2 EXON Missense_S433C exm765536 9 100367030 [A/G] NM_139246 TSTD2 EXON Missense_Y411H exm765538 9 100367044 [T/C] NM_139246 TSTD2 EXON Missense_R406H exm765541 9 100367147 [A/C] NM_139246 TSTD2 EXON Nonsense_G372X exm765548 9 100367829 [T/C] NM_139246 TSTD2 EXON Missense_R350K exm765561 9 100372648 [T/C] NM_139246 TSTD2 EXON Missense_K272R exm765567 9 100372734 [T/C] NM_139246 TSTD2 Silent exm2178692 9 100373978 [A/G] NM_139246 TSTD2 EXON Nonsense_R203X exm765583 9 100388119 [T/G] NM_139246 TSTD2 EXON Missense_A109D exm765587 9 100388197 [T/C] NM_139246 TSTD2 EXON Missense_R83Q exm765593 9 100389696 [A/G] NM_139246 TSTD2 EXON Missense_S50L exm765595 9 100389825 [A/G] NM_139246 TSTD2 EXON Missense_P7L exm765608 9 100405634 [A/G] NM_002486 NCBP1 EXON Missense_V125M exm765619 9 100409817 [T/G] NM_002486 NCBP1 EXON Missense_A219S exm765633 9 100418331 [T/C] NM_002486 NCBP1 EXON Missense_P446L exm765649 9 100426712 [T/C] NM_002486 NCBP1 EXON Missense_R630C exm765652 9 100429112 [A/C] NM_002486 NCBP1 EXON Missense_K657Q exm765659 9 100431908 [C/G] NM_002486 NCBP1 EXON Missense_R727G exm765668 9 100437777 [T/C] NR_027302,NM_000380 XPA,XPA EXON Silent,Missense_M256V exm765669 9 100437789 [C/G] NR_027302,NM_000380 XPA,XPA EXON Silent,Missense_L252V exm765670 9 100437812 [T/C] NR_027302,NM_000380 XPA,XPA EXON Silent,Missense_H244R exm765672 9 100437843 [A/C] NR_027302,NM_000380 XPA,XPA EXON Silent,Missense_V234L exm765673 9 100437860 [T/C] NR_027302,NM_000380 XPA,XPA EXON Silent,Missense_R228Q exm765674 9 100437861 [A/G] NR_027302,NM_000380 XPA,XPA EXON Silent,Nonsense_R228X exm765680 9 100447247 [A/G] NR_027302,NM_000380 XPA,XPA EXON Silent,Nonsense_R211X exm765681 9 100447273 [T/G] NR_027302,NM_000380 XPA,XPA EXON Silent,Missense_E202A exm765687 9 100449436 [A/G] NR_027302,NM_000380 XPA,XPA EXON Silent,Missense_V166A exm-rs965513 9 100556109 [A/G] exm765744 9 100617283 [C/G] NM_004473 FOXE1 EXON Missense_P363A exm765754 9 100667157 [T/C] NM_016481 C9orf156 EXON Missense_R395H exm765761 9 100672338 [T/C] NM_016481 C9orf156 EXON Missense_V324M exm765764 9 100672512 [T/C] NM_016481 C9orf156 EXON Missense_V266M exm765768 9 100672558 [T/C] NM_016481 C9orf156 EXON Missense_I250M exm765771 9 100672587 [A/G] NM_016481 C9orf156 EXON Nonsense_Q241X exm765773 9 100672684 [G/C] NM_016481 C9orf156 EXON Missense_E208D exm2247278 9 100672844 [T/C] NM_016481 C9orf156 EXON Missense_D155G exm765780 9 100672873 [A/C] NM_016481 C9orf156 EXON Missense_I145M exm765787 9 100675724 [T/C] NM_016481 C9orf156 EXON Missense_N123S exm765791 9 100678461 [A/T] NM_016481 C9orf156 EXON Missense_Q79L exm2178793 9 100678527 [T/C] NM_016481 C9orf156 EXON Missense_R57Q exm765802 9 100684757 [A/G] NM_016481 C9orf156 EXON Missense_S7P exm765806 9 100684769 [A/C] NM_016481 C9orf156 EXON Missense_G3C exm2259043 9 100689693 [A/G] NM_018437,NM_197978 HEMGN,HEMGN EXON Synonymous_N476N,Synonymous_N476N exm765814 9 100692325 [A/G] NM_018437,NM_197978 HEMGN,HEMGN EXON Missense_F451S,Missense_F451S exm765818 9 100692337 [T/C] NM_018437,NM_197978 HEMGN,HEMGN EXON Missense_D447G,Missense_D447G exm765823 9 100692542 [A/C] NM_018437,NM_197978 HEMGN,HEMGN EXON Nonsense_E379X,Nonsense_E379X exm765828 9 100692598 [T/G] NM_018437,NM_197978 HEMGN,HEMGN EXON Missense_T360N,Missense_T360N exm765831 9 100692638 [A/G] NM_018437,NM_197978 HEMGN,HEMGN EXON Missense_P347S,Missense_P347S exm765839 9 100692841 [T/G] NM_018437,NM_197978 HEMGN,HEMGN EXON Missense_A279E,Missense_A279E exm765842 9 100692940 [A/G] NM_018437,NM_197978 HEMGN,HEMGN EXON Missense_T246I,Missense_T246I exm765851 9 100693223 [A/C] NM_018437,NM_197978 HEMGN,HEMGN EXON Nonsense_E152X,Nonsense_E152X exm765857 9 100693387 [A/G] NM_018437,NM_197978 HEMGN,HEMGN EXON Missense_V97A,Missense_V97A exm765858 9 100693441 [T/C] NM_018437,NM_197978 HEMGN,HEMGN EXON Missense_Q79R,Missense_Q79R exm-rs755109 9 100696203 [T/C] NM_018437,NM_197978 HEMGN,HEMGN Silent,Silent exm765862 9 100698484 [T/G] NM_018437,NM_197978 HEMGN,HEMGN EXON Missense_H48N,Missense_H48N exm-rs4743150 9 100740124 [T/C] exm765881 9 100767307 [A/C] NM_006401 ANP32B EXON Missense_D130A exm765907 9 100819143 [T/C] NM_018946 NANS EXON Missense_P18L exm2178823 9 100823121 [T/C] NM_018946 NANS EXON Missense_R64W exm765912 9 100823122 [A/G] NM_018946 NANS EXON Missense_R64Q exm765914 9 100823135 [C/G] NM_018946 NANS EXON Missense_E68D exm765922 9 100839202 [A/G] NM_018946,NM_033220 NANS,TRIM14 EXON Missense_M117I,Silent exm765926 9 100840546 [T/C] NM_018946,NM_033220 NANS,TRIM14 EXON Missense_P174S,Silent exm765934 9 100843194 [A/G] NM_018946,NM_033220 NANS,TRIM14 EXON Missense_V234M,Silent exm765937 9 100843246 [T/C] NM_018946,NM_033220 NANS,TRIM14 EXON Missense_S251L,Silent exm765939 9 100843266 [T/G] NM_018946,NM_033220 NANS,TRIM14 EXON Nonsense_E258X,Silent exm765940 9 100843285 [A/G] NM_018946,NM_033220 NANS,TRIM14 EXON Missense_R264Q,Silent exm765942 9 100843305 [T/C] NM_018946,NM_033220 NANS,TRIM14 EXON Missense_R271C,Silent exm765950 9 100845160 [T/G] NM_018946,NM_033220 NANS,TRIM14 EXON Missense_I301M,Silent exm765966 9 100849822 [A/G] NM_033220,NM_033219,NM_014788 TRIM14,TRIM14,TRIM14 EXON Missense_T420M,Missense_T420M,Missense_T420M exm765986 9 100854283 [T/C] NM_033220,NM_033219,NM_014788 TRIM14,TRIM14,TRIM14 EXON Missense_S234N,Missense_S234N,Missense_S234N exm765990 9 100857175 [A/G] NM_033220,NM_033219,NM_014788 TRIM14,TRIM14,TRIM14 EXON Missense_T225M,Missense_T225M,Missense_T225M exm765991 9 100857194 [T/C] NM_033220,NM_033219,NM_014788 TRIM14,TRIM14,TRIM14 EXON Missense_V219M,Missense_V219M,Missense_V219M exm765993 9 100857227 [T/C] NM_033220,NM_033219,NM_014788 TRIM14,TRIM14,TRIM14 EXON Missense_V208I,Missense_V208I,Missense_V208I exm766024 9 100887113 [G/C] NM_052820,NM_003389 CORO2A,CORO2A EXON Missense_Q507H,Missense_Q507H exm766026 9 100887145 [T/G] NM_052820,NM_003389 CORO2A,CORO2A EXON Missense_L497I,Missense_L497I exm766034 9 100889003 [T/C] NM_052820,NM_003389 CORO2A,CORO2A EXON Missense_R425Q,Missense_R425Q exm766042 9 100890454 [T/C] NM_052820,NM_003389 CORO2A,CORO2A EXON Missense_R390Q,Missense_R390Q exm766044 9 100890484 [A/G] NM_052820,NM_003389 CORO2A,CORO2A EXON Missense_T380M,Missense_T380M exm766048 9 100890954 [A/G] NM_052820,NM_003389 CORO2A,CORO2A EXON Missense_R339C,Missense_R339C exm766057 9 100892129 [C/G] NM_052820,NM_003389 CORO2A,CORO2A EXON Missense_P305R,Missense_P305R exm766060 9 100892156 [T/C] NM_052820,NM_003389 CORO2A,CORO2A EXON Missense_R296H,Missense_R296H exm766068 9 100893302 [T/C] NM_052820,NM_003389 CORO2A,CORO2A EXON Missense_G269S,Missense_G269S exm766071 9 100894561 [T/C] NM_052820,NM_003389 CORO2A,CORO2A EXON Missense_R224Q,Missense_R224Q exm766072 9 100895328 [T/C] NM_052820,NM_003389 CORO2A,CORO2A EXON Missense_V214I,Missense_V214I exm766075 9 100895355 [A/G] NM_052820,NM_003389 CORO2A,CORO2A EXON Missense_R205W,Missense_R205W exm766085 9 100897123 [T/C] NM_052820,NM_003389 CORO2A,CORO2A EXON Missense_A145T,Missense_A145T exm766086 9 100897126 [T/C] NM_052820,NM_003389 CORO2A,CORO2A EXON Missense_A144T,Missense_A144T exm766087 9 100897153 [T/C] NM_052820,NM_003389 CORO2A,CORO2A EXON Missense_V135I,Missense_V135I exm766089 9 100897162 [T/C] NM_052820,NM_003389 CORO2A,CORO2A EXON Missense_A132T,Missense_A132T exm766091 9 100897191 [A/G] NM_052820,NM_003389 CORO2A,CORO2A EXON Missense_T122M,Missense_T122M exm766093 9 100897212 [T/C] NM_052820,NM_003389 CORO2A,CORO2A EXON Missense_Q115R,Missense_Q115R exm2264351 9 100919318 [A/C] NM_052820,NM_003389 CORO2A,CORO2A Silent,Silent exm766109 9 100919834 [T/C] NM_052820,NM_003389 CORO2A,CORO2A EXON Missense_D37N,Missense_D37N exm2178888 9 100919835 [G/C] NM_052820,NM_003389 CORO2A,CORO2A EXON Missense_H36Q,Missense_H36Q exm766111 9 100919858 [T/C] NM_052820,NM_003389 CORO2A,CORO2A EXON Missense_V29M,Missense_V29M exm766112 9 100919859 [A/G] NM_052820,NM_003389 CORO2A,CORO2A EXON Synonymous_S28S,Synonymous_S28S exm2259046 9 100919859 [A/G] NM_052820,NM_003389 CORO2A,CORO2A EXON Synonymous_S28S,Synonymous_S28S exm766114 9 100919864 [C/G] NM_052820,NM_003389 CORO2A,CORO2A EXON Missense_D27H,Missense_D27H exm766117 9 100919905 [A/C] NM_052820,NM_003389 CORO2A,CORO2A EXON Missense_R13L,Missense_R13L exm766118 9 100919920 [T/C] NM_052820,NM_003389 CORO2A,CORO2A EXON Missense_R8Q,Missense_R8Q exm766119 9 100919921 [A/G] NM_052820,NM_003389 CORO2A,CORO2A EXON Missense_R8W,Missense_R8W exm766124 9 100961704 [T/C] NM_001267572,NM_001267571,NR_051978,NM_018421 TBC1D2,TBC1D2,TBC1D2,TBC1D2 EXON Missense_E456K,Missense_E916K,Silent,Missense_E905K exm766129 9 100961731 [A/G] NM_001267572,NM_001267571,NR_051978,NM_018421 TBC1D2,TBC1D2,TBC1D2,TBC1D2 EXON Missense_R447W,Missense_R907W,Silent,Missense_R896W exm766130 9 100961769 [T/C] NM_001267572,NM_001267571,NR_051978,NM_018421 TBC1D2,TBC1D2,TBC1D2,TBC1D2 EXON Missense_R434Q,Missense_R894Q,Silent,Missense_R883Q exm766132 9 100961787 [T/C] NM_001267572,NM_001267571,NR_051978,NM_018421 TBC1D2,TBC1D2,TBC1D2,TBC1D2 EXON Missense_R428Q,Missense_R888Q,Silent,Missense_R877Q exm766143 9 100962536 [A/G] NM_001267572,NM_001267571,NR_051978,NM_018421 TBC1D2,TBC1D2,TBC1D2,TBC1D2 EXON Missense_R400W,Missense_R860W,Silent,Missense_R849W exm766144 9 100962552 [G/C] NM_001267572,NM_001267571,NR_051978,NM_018421 TBC1D2,TBC1D2,TBC1D2,TBC1D2 EXON Missense_K394N,Missense_K854N,Silent,Missense_K843N exm766146 9 100962566 [A/G] NM_001267572,NM_001267571,NR_051978,NM_018421 TBC1D2,TBC1D2,TBC1D2,TBC1D2 EXON Missense_R390C,Missense_R850C,Silent,Missense_R839C exm2247284 9 100963856 [T/C] NM_001267572,NM_001267571,NR_051978,NM_018421 TBC1D2,TBC1D2,TBC1D2,TBC1D2 EXON Missense_V328I,Missense_V788I,Silent,Missense_V788I exm766171 9 100965662 [G/C] NM_001267572,NM_001267571,NR_051978,NM_018421 TBC1D2,TBC1D2,TBC1D2,TBC1D2 EXON Missense_E267Q,Missense_E727Q,Silent,Missense_E727Q exm766184 9 100971116 [A/G] NM_001267572,NM_001267571,NR_051978,NM_018421 TBC1D2,TBC1D2,TBC1D2,TBC1D2 EXON Missense_R202C,Missense_R662C,Silent,Missense_R662C exm766185 9 100971128 [A/G] NM_001267572,NM_001267571,NR_051978,NM_018421 TBC1D2,TBC1D2,TBC1D2,TBC1D2 EXON Missense_R198W,Missense_R658W,Silent,Missense_R658W exm766187 9 100971176 [A/G] NM_001267572,NM_001267571,NR_051978,NM_018421 TBC1D2,TBC1D2,TBC1D2,TBC1D2 EXON Missense_R182C,Missense_R642C,Silent,Missense_R642C exm766191 9 100971217 [T/C] NM_001267572,NM_001267571,NR_051978,NM_018421 TBC1D2,TBC1D2,TBC1D2,TBC1D2 EXON Missense_R168H,Missense_R628H,Silent,Missense_R628H exm766214 9 100973115 [A/C] NM_001267572,NM_001267571,NR_051978,NM_018421 TBC1D2,TBC1D2,TBC1D2,TBC1D2 EXON Missense_L39R,Missense_L499R,Silent,Missense_L499R exm766218 9 100975439 [A/G] NM_001267572,NM_001267571,NR_051978,NM_018421 TBC1D2,TBC1D2,TBC1D2,TBC1D2 EXON Missense_T19I,Missense_T479I,Silent,Missense_T479I exm2178920 9 100975481 [T/C] NM_001267572,NM_001267571,NR_051978,NM_018421 TBC1D2,TBC1D2,TBC1D2,TBC1D2 EXON Missense_R5Q,Missense_R465Q,Silent,Missense_R465Q exm766227 9 100983215 [A/G] NM_001267571,NR_051978,NM_018421 TBC1D2,TBC1D2,TBC1D2 EXON Missense_V425A,Silent,Missense_V425A exm766231 9 100983329 [A/G] NM_001267571,NR_051978,NM_018421 TBC1D2,TBC1D2,TBC1D2 EXON Missense_A387V,Silent,Missense_A387V exm2178930 9 100991356 [A/G] NM_001267571,NR_051978,NM_018421 TBC1D2,TBC1D2,TBC1D2 EXON Missense_R286C,Silent,Missense_R286C exm766243 9 100991371 [T/C] NM_001267571,NR_051978,NM_018421 TBC1D2,TBC1D2,TBC1D2 EXON Missense_A281T,Silent,Missense_A281T exm766248 9 100991430 [A/C] NM_001267571,NR_051978,NM_018421 TBC1D2,TBC1D2,TBC1D2 EXON Missense_G261V,Silent,Missense_G261V exm766249 9 100995721 [A/G] NM_001267571,NR_051978,NM_018421 TBC1D2,TBC1D2,TBC1D2 EXON Missense_L253S,Silent,Missense_L253S exm766251 9 100995758 [T/G] NM_001267571,NR_051978,NM_018421 TBC1D2,TBC1D2,TBC1D2 EXON Missense_P241T,Silent,Missense_P241T exm766254 9 100995812 [A/G] NM_001267571,NR_051978,NM_018421 TBC1D2,TBC1D2,TBC1D2 EXON Missense_R223C,Silent,Missense_R223C exm766255 9 100995833 [T/C] NM_001267571,NR_051978,NM_018421 TBC1D2,TBC1D2,TBC1D2 Silent,Silent,Silent exm766258 9 101006405 [T/C] NM_001267571,NR_051978,NM_018421 TBC1D2,TBC1D2,TBC1D2 EXON Missense_E173G,Silent,Missense_E173G exm766266 9 101014205 [T/C] NM_001267571,NR_051978,NM_018421 TBC1D2,TBC1D2,TBC1D2 EXON Missense_A125T,Silent,Missense_A125T exm2259048 9 101014206 [A/G] NM_001267571,NR_051978,NM_018421 TBC1D2,TBC1D2,TBC1D2 EXON Synonymous_A124A,Silent,Synonymous_A124A exm766269 9 101017556 [A/C] NM_001267571,NR_051978,NM_018421 TBC1D2,TBC1D2,TBC1D2 EXON Missense_L90V,Silent,Missense_L90V exm766270 9 101017569 [G/C] NM_001267571,NR_051978,NM_018421 TBC1D2,TBC1D2,TBC1D2 EXON Missense_Q85H,Silent,Missense_Q85H exm766287 9 101052937 [T/C] NM_005458 GABBR2 EXON Missense_V919I exm766298 9 101056122 [T/C] NM_005458 GABBR2 EXON Missense_T869A exm766299 9 101056152 [T/C] NM_005458 GABBR2 EXON Missense_D859N exm766323 9 101125025 [T/C] NM_005458 GABBR2 EXON Missense_R622Q exm766328 9 101147922 [A/G] NM_005458 GABBR2 EXON Synonymous_T554T exm766342 9 101151281 [T/C] NM_005458 GABBR2 EXON Missense_E462K exm766355 9 101235543 [A/G] NM_005458 GABBR2 EXON Missense_T295M exm766363 9 101258757 [T/C] NM_005458 GABBR2 EXON Missense_I224V exm766365 9 101304172 [T/C] NM_005458 GABBR2 EXON Missense_V205I exm766367 9 101304186 [A/G] NM_005458 GABBR2 EXON Missense_T200M exm2259049 9 101350077 [A/C] NM_005458 GABBR2 Silent exm2247288 9 101498824 [A/G] NM_173551 ANKS6 EXON Missense_P865S exm766390 9 101498853 [A/G] NM_173551 ANKS6 EXON Missense_F855S exm766397 9 101513332 [A/C] NM_173551 ANKS6 EXON Missense_Q791H exm766404 9 101518761 [A/G] NM_173551 ANKS6 EXON Missense_S756L exm766406 9 101518803 [A/G] NM_173551 ANKS6 EXON Missense_S742L exm766409 9 101518825 [G/C] NM_173551 ANKS6 EXON Missense_P735A exm766413 9 101530392 [A/G] NM_173551 ANKS6 EXON Missense_P705S exm766423 9 101533207 [T/C] NM_173551 ANKS6 EXON Missense_R648Q exm766424 9 101533220 [T/C] NM_173551 ANKS6 EXON Missense_V644I exm2179011 9 101536358 [T/C] NM_173551 ANKS6 EXON Missense_R541Q exm766446 9 101540510 [T/C] NM_173551 ANKS6 EXON Missense_N522S exm766449 9 101540547 [A/G] NM_173551 ANKS6 EXON Missense_S510P exm766451 9 101540550 [T/G] NM_173551 ANKS6 EXON Missense_R509S exm766452 9 101540555 [T/G] NM_173551 ANKS6 EXON Missense_T507K exm766456 9 101540607 [T/C] NM_173551 ANKS6 EXON Missense_E490K exm766459 9 101540658 [T/G] NM_173551 ANKS6 EXON Missense_Q473K exm2247290 9 101544749 [T/C] NM_173551 ANKS6 EXON Missense_D407N exm766472 9 101544853 [T/C] NM_173551 ANKS6 EXON Missense_N372S exm766485 9 101546410 [T/C] NM_173551 ANKS6 EXON Missense_D313N exm766489 9 101552476 [C/G] NM_173551 ANKS6 EXON Missense_E258Q exm766498 9 101552584 [A/G] NM_173551 ANKS6 EXON Missense_R222W exm766499 9 101552590 [T/C] NM_173551 ANKS6 EXON Missense_A220T exm766503 9 101552605 [T/C] NM_173551 ANKS6 EXON Missense_A215T exm766515 9 101552683 [G/C] NM_173551 ANKS6 EXON Missense_P189A exm766518 9 101552716 [T/C] NM_173551 ANKS6 EXON Missense_E178K exm766523 9 101552770 [T/C] NM_173551 ANKS6 EXON Missense_V160M exm766544 9 101570283 [C/G] NM_024642 GALNT12 EXON Missense_H101Q exm766547 9 101570336 [T/A] NM_024642 GALNT12 EXON Missense_E119V exm766554 9 101585638 [A/G] NM_024642 GALNT12 EXON Missense_S158G exm766559 9 101589058 [A/G] NM_024642 GALNT12 EXON Missense_N189S exm2247292 9 101589211 [T/C] NM_024642 GALNT12 EXON Missense_P240L exm766574 9 101594098 [T/C] NM_024642 GALNT12 EXON Missense_V259A exm766576 9 101594103 [A/G] NM_024642 GALNT12 EXON Missense_D261N exm766579 9 101594151 [A/G] NM_024642 GALNT12 EXON Missense_G277S exm766588 9 101594211 [T/C] NM_024642 GALNT12 EXON Missense_R297W exm766594 9 101594229 [A/G] NM_024642 GALNT12 EXON Missense_D303N exm766608 9 101602372 [T/C] NM_024642 GALNT12 EXON Missense_P434L exm2273457 9 101611545 [A/G] NM_024642 GALNT12 EXON Silent exm2271115 9 101723531 [T/C] NM_001855 COL15A1 Silent exm766645 9 101747885 [A/G] NM_001855 COL15A1 EXON Missense_I47V exm766652 9 101748054 [A/G] NM_001855 COL15A1 EXON Missense_R103H exm766657 9 101748234 [A/G] NM_001855 COL15A1 EXON Missense_R163H exm766659 9 101748242 [A/G] NM_001855 COL15A1 EXON Missense_M166V exm766660 9 101748297 [A/G] NM_001855 COL15A1 EXON Missense_R184H exm766662 9 101748317 [T/C] NM_001855 COL15A1 EXON Missense_S191P exm766663 9 101748344 [A/G] NM_001855 COL15A1 EXON Missense_A200T exm766666 9 101748356 [A/G] NM_001855 COL15A1 EXON Missense_M204V exm766671 9 101749597 [A/G] NM_001855 COL15A1 EXON Missense_V224M exm766679 9 101751510 [G/C] NM_001855 COL15A1 EXON Missense_I258M exm766685 9 101759216 [A/C] NM_001855 COL15A1 EXON Missense_P269T exm766699 9 101765841 [T/C] NM_001855 COL15A1 EXON Missense_T391M exm766707 9 101767228 [A/G] NM_001855 COL15A1 EXON Missense_E417K exm766708 9 101767245 [A/G] NM_001855 COL15A1 EXON Missense_M422I exm766711 9 101767303 [A/G] NM_001855 COL15A1 EXON Missense_A442T exm766714 9 101767315 [A/G] NM_001855 COL15A1 EXON Missense_G446R exm766717 9 101777715 [A/G] NM_001855 COL15A1 EXON Missense_D457G exm2247297 9 101777822 [A/G] NM_001855 COL15A1 EXON Missense_M493V exm766723 9 101777834 [T/C] NM_001855 COL15A1 EXON Missense_R497W exm766726 9 101778265 [T/G] NM_001855 COL15A1 EXON Missense_G504V exm766727 9 101778272 [A/C] NM_001855 COL15A1 EXON Missense_E506D exm2247298 9 101778321 [A/G] NM_001855 COL15A1 EXON Missense_G523S exm766732 9 101778346 [G/C] NM_001855 COL15A1 EXON Missense_P531R exm766733 9 101778358 [T/C] NM_001855 COL15A1 EXON Missense_P535L exm766737 9 101782725 [T/G] NM_001855 COL15A1 Silent exm766745 9 101785658 [T/G] NM_001855 COL15A1 EXON Missense_G594V exm2259050 9 101785666 [T/C] NM_001855 COL15A1 EXON Synonymous_L597L exm766747 9 101785675 [A/G] NM_001855 COL15A1 EXON Missense_G600S exm766753 9 101787234 [T/C] NM_001855 COL15A1 EXON Missense_P645S exm2179122 9 101787280 [A/C] NM_001855 COL15A1 EXON Missense_P660Q exm2247299 9 101788219 [A/G] NM_001855 COL15A1 EXON Missense_T672A exm766773 9 101797330 [T/C] NM_001855 COL15A1 EXON Missense_P705L exm766775 9 101797356 [T/C] NM_001855 COL15A1 EXON Missense_P714S exm766786 9 101798485 [A/C] NM_001855 COL15A1 EXON Missense_K775Q exm766793 9 101800966 [T/C] NM_001855 COL15A1 EXON Missense_T809I exm766806 9 101804366 [T/C] NM_001855 COL15A1 EXON Missense_F851L exm2179158 9 101810271 [A/G] NM_001855 COL15A1 EXON Missense_V928I exm766829 9 101812154 [A/G] NM_001855 COL15A1 EXON Missense_V961I exm766838 9 101816859 [T/C] NM_001855 COL15A1 EXON Synonymous_G984G exm766839 9 101816866 [A/G] NM_001855 COL15A1 EXON Missense_G987R exm766840 9 101816873 [A/G] NM_001855 COL15A1 EXON Missense_K989R exm766843 9 101816909 [A/G] NM_001855 COL15A1 EXON Missense_K1001R exm766846 9 101817602 [A/G] NM_001855 COL15A1 EXON Missense_G1047D exm766849 9 101817650 [T/C] NM_001855 COL15A1 EXON Missense_P1063L exm766861 9 101824293 [T/C] NM_001855 COL15A1 EXON Missense_A1148V exm766866 9 101824352 [T/C] NM_001855 COL15A1 EXON Missense_R1168C exm766867 9 101824353 [A/G] NM_001855 COL15A1 EXON Missense_R1168H exm766871 9 101824528 [T/C] NM_001855 COL15A1 EXON Missense_L1178P exm766872 9 101824545 [A/C] NM_001855 COL15A1 EXON Missense_I1184L exm766874 9 101824554 [A/G] NM_001855 COL15A1 EXON Missense_D1187N exm766876 9 101824569 [G/C] NM_001855 COL15A1 EXON Missense_P1192A exm766877 9 101824586 [T/C] NM_001855 COL15A1 EXON Synonymous_N1197N exm766878 9 101825372 [T/C] NM_001855 COL15A1 EXON Missense_A1211V exm766884 9 101830882 [A/G] NM_001855 COL15A1 EXON Missense_G1295R exm766886 9 101830911 [A/G] NM_001855 COL15A1 EXON Missense_I1304M exm766888 9 101830933 [A/C] NM_001855 COL15A1 EXON Missense_I1312L exm766891 9 101831995 [A/G] NM_001855 COL15A1 EXON Missense_V1332I exm766892 9 101831998 [T/C] NM_001855 COL15A1 EXON Missense_R1333C exm2262561 9 101855570 [T/C] exm766914 9 101891253 [T/A] NM_004612,NM_001130916 TGFBR1,TGFBR1 EXON Missense_I72L,Missense_I72L exm766919 9 101894904 [A/G] NM_004612,NM_001130916 TGFBR1,TGFBR1 EXON Missense_V153I,Silent exm-rs334353 9 101908365 [T/G] NM_004612,NM_001130916 TGFBR1,TGFBR1 Silent,Silent exm766950 9 101911508 [A/G] NM_004612,NM_001130916 TGFBR1,TGFBR1 EXON Missense_N478S,Missense_N401S exm766966 9 101980335 [A/G] NM_033087,NR_024532 ALG2,ALG2 EXON Missense_R378C,Silent exm766968 9 101980367 [A/G] NM_033087,NR_024532 ALG2,ALG2 EXON Missense_V367A,Silent exm766971 9 101980412 [A/G] NM_033087,NR_024532 ALG2,ALG2 EXON Missense_S352F,Silent exm766976 9 101980680 [A/G] NM_033087,NR_024532 ALG2,ALG2 EXON Missense_H263Y,Silent exm766988 9 101980992 [T/C] NM_033087,NR_024532 ALG2,ALG2 EXON Missense_I159V,Silent exm767009 9 101984146 [A/G] NM_033087,NR_024532 ALG2,ALG2 EXON Missense_S11P,Silent exm767029 9 101990210 [T/C] NM_006808 SEC61B EXON Missense_A44V exm2271116 9 102139527 [T/C] exm767065 9 102590573 [T/G] NM_173199,NM_006981,NM_173200 NR4A3,NR4A3,NR4A3 EXON Missense_L83F,Missense_L83F,Missense_L94F exm767067 9 102590593 [A/G] NM_173199,NM_006981,NM_173200 NR4A3,NR4A3,NR4A3 EXON Missense_R90Q,Missense_R90Q,Missense_R101Q exm767068 9 102590620 [A/G] NM_173199,NM_006981,NM_173200 NR4A3,NR4A3,NR4A3 EXON Missense_H99R,Missense_H99R,Missense_H110R exm767074 9 102590746 [C/G] NM_173199,NM_006981,NM_173200 NR4A3,NR4A3,NR4A3 EXON Missense_S141C,Missense_S141C,Missense_S152C exm767098 9 102595749 [A/C] NM_173199,NM_006981,NM_173200 NR4A3,NR4A3,NR4A3 EXON Missense_I423L,Silent,Silent exm2271117 9 102624496 [T/C] NM_006981,NM_173200 NR4A3,NR4A3 Silent,Silent exm767108 9 102626021 [C/G] NM_006981,NM_173200 NR4A3,NR4A3 EXON Missense_G585R,Missense_G596R exm767110 9 102677552 [T/C] NM_017919 STX17 EXON Missense_R11C exm767113 9 102677589 [T/C] NM_017919 STX17 EXON Missense_I23T exm767121 9 102713391 [A/G] NM_017919 STX17 EXON Missense_R80Q exm767122 9 102713432 [A/G] NM_017919 STX17 EXON Missense_V94I exm767123 9 102713445 [T/C] NM_017919 STX17 EXON Missense_A98V exm-rs10760706 9 102723692 [T/C] NM_017919 STX17 Silent exm767134 9 102729978 [C/G] NM_017919 STX17 EXON Missense_S209T exm767139 9 102730786 [T/C] NM_017919 STX17 EXON Missense_I247T exm767143 9 102730940 [G/C] NM_017919 STX17 EXON Missense_D298E exm767152 9 102778676 [A/C] NM_015051 ERP44 EXON Missense_F230L exm767158 9 102780581 [A/G] NM_015051 ERP44 EXON Missense_P201L exm767169 9 102820138 [T/C] NM_015051 ERP44 EXON Missense_N45S exm767173 9 102822438 [A/G] NM_015051 ERP44 EXON Missense_T25I exm767179 9 102866870 [A/G] NM_183245,NM_014425,NR_051962 INVS,INVS,INVS EXON Missense_V23I,Missense_V23I,Silent exm2266926 9 102897144 [A/G] NM_183245,NM_014425,NR_051962 INVS,INVS,INVS Silent,Silent,Silent exm767193 9 102988437 [T/C] NM_183245,NM_014425,NR_051962 INVS,INVS,INVS EXON Missense_R123W,Missense_R123W,Silent exm767202 9 103002432 [A/G] NM_183245,NM_014425,NR_051962 INVS,INVS,INVS EXON Missense_V236M,Missense_V236M,Silent exm767203 9 103002451 [T/C] NM_183245,NM_014425,NR_051962 INVS,INVS,INVS EXON Missense_S242L,Missense_S242L,Silent exm767204 9 103002466 [A/G] NM_183245,NM_014425,NR_051962 INVS,INVS,INVS EXON Missense_N247S,Missense_N247S,Silent exm767209 9 103008904 [A/G] NM_183245,NM_014425,NR_051962 INVS,INVS,INVS EXON Missense_V305I,Missense_V305I,Silent exm767222 9 103015218 [G/C] NM_183245,NM_014425,NR_051962 INVS,INVS,INVS EXON Missense_D422H,Missense_D422H,Silent exm767244 9 103046742 [A/G] NM_183245,NM_014425,NR_051962 INVS,INVS,INVS EXON Missense_K642R,Missense_K642R,Silent exm2179351 9 103046760 [A/G] NM_183245,NM_014425,NR_051962 INVS,INVS,INVS EXON Missense_N648S,Missense_N648S,Silent exm767247 9 103046765 [C/G] NM_183245,NM_014425,NR_051962 INVS,INVS,INVS EXON Missense_A650P,Missense_A650P,Silent exm767248 9 103046788 [C/G] NM_183245,NM_014425,NR_051962 INVS,INVS,INVS EXON Missense_D657E,Missense_D657E,Silent exm767253 9 103046873 [A/G] NM_183245,NM_014425,NR_051962 INVS,INVS,INVS EXON Missense_R686G,Missense_R686G,Silent exm767256 9 103054655 [A/G] NM_183245,NM_014425,NR_051962 INVS,INVS,INVS EXON Missense_R706G,Missense_R706G,Silent exm767260 9 103054817 [T/G] NM_183245,NM_014425,NR_051962 INVS,INVS,INVS EXON Silent,Missense_S760A,Silent exm767263 9 103054850 [A/G] NM_183245,NM_014425,NR_051962 INVS,INVS,INVS EXON Silent,Missense_D771N,Silent exm767270 9 103054925 [G/C] NM_183245,NM_014425,NR_051962 INVS,INVS,INVS EXON Silent,Missense_Q796E,Silent exm767271 9 103054941 [A/G] NM_183245,NM_014425,NR_051962 INVS,INVS,INVS EXON Silent,Missense_G801E,Silent exm767286 9 103055225 [A/G] NM_183245,NM_014425,NR_051962 INVS,INVS,INVS EXON Silent,Missense_V896I,Silent exm767287 9 103055234 [T/C] NM_183245,NM_014425,NR_051962 INVS,INVS,INVS EXON Nonsense_R729X,Nonsense_R899X,Silent exm767296 9 103055324 [A/G] NM_183245,NM_014425,NR_051962 INVS,INVS,INVS EXON Missense_S759G,Missense_S929G,Silent exm767298 9 103059215 [T/C] NM_183245,NM_014425,NR_051962 INVS,INVS,INVS EXON Missense_H765Y,Missense_H935Y,Silent exm767302 9 103059278 [A/G] NM_183245,NM_014425,NR_051962 INVS,INVS,INVS EXON Missense_E786K,Missense_E956K,Silent exm2179372 9 103064523 [A/G] NM_017746,NM_001161584 TEX10,TEX10 EXON Missense_Y914H,Missense_Y898H exm767330 9 103065964 [A/G] NM_017746,NM_001161584 TEX10,TEX10 EXON Missense_H876Y,Missense_H860Y exm767332 9 103066063 [T/C] NM_017746,NM_001161584 TEX10,TEX10 EXON Missense_M843V,Missense_M827V exm767343 9 103070879 [T/C] NM_017746,NM_001161584 TEX10,TEX10 EXON Missense_S790G,Missense_S793G exm2179377 9 103070935 [A/G] NM_017746,NM_001161584 TEX10,TEX10 EXON Missense_T771M,Missense_T774M exm767358 9 103088620 [T/C] NM_017746,NM_001161584 TEX10,TEX10 EXON Missense_S648N,Missense_S651N exm767360 9 103088713 [T/C] NM_017746,NM_001161584 TEX10,TEX10 EXON Missense_R617H,Missense_R620H exm767372 9 103092357 [T/C] NM_017746,NM_001161584 TEX10,TEX10 EXON Missense_T449A,Missense_T452A exm767380 9 103108449 [T/C] NM_017746,NM_001161584 TEX10,TEX10 EXON Missense_I348V,Missense_I351V exm767391 9 103109070 [T/C] NM_017746,NM_001161584 TEX10,TEX10 EXON Missense_I267V,Missense_I270V exm2179408 9 103109242 [T/C] NM_017746,NM_001161584 TEX10,TEX10 EXON Missense_I209M,Missense_I212M exm-rs10989064 9 103111965 [T/C] NM_017746,NM_001161584 TEX10,TEX10 Silent,Silent exm767439 9 103212943 [A/G] NM_001198807,NM_080655,NM_001198805,NM_001198806,NM_001198812 MSANTD3,MSANTD3,MSANTD3,MSANTD3,MSANTD3-TMEFF1 EXON Silent,Missense_V175I,Missense_V175I,Missense_V175I,Silent exm767444 9 103213232 [T/G] NM_001198807,NM_080655,NM_001198805,NM_001198806,NM_001198812 MSANTD3,MSANTD3,MSANTD3,MSANTD3,MSANTD3-TMEFF1 EXON Silent,Missense_F271C,Missense_F271C,Missense_F271C,Silent exm767453 9 103235956 [C/G] NM_001198812,NM_003692 MSANTD3-TMEFF1,TMEFF1 EXON Silent,Missense_P44A exm767455 9 103261074 [T/G] NM_001198812,NM_003692 MSANTD3-TMEFF1,TMEFF1 EXON Missense_R149I,Missense_R75I exm767460 9 103271290 [T/C] NM_001198812,NM_003692 MSANTD3-TMEFF1,TMEFF1 EXON Missense_H178Y,Missense_H104Y exm767493 9 103340628 [T/C] NM_001018116 MURC EXON Missense_V68A exm767495 9 103340658 [T/C] NM_001018116 MURC EXON Missense_S78L exm767497 9 103340668 [T/G] NM_001018116 MURC EXON Missense_N81K exm767500 9 103340809 [C/G] NM_001018116 MURC EXON Missense_N128K exm767502 9 103340817 [A/G] NM_001018116 MURC EXON Missense_R131H exm767504 9 103340834 [T/G] NM_001018116 MURC Silent exm2266857 9 103341014 [A/G] NM_001018116 MURC Silent exm767509 9 103348126 [A/G] NM_001018116 MURC EXON Missense_D163G exm767519 9 103348330 [A/G] NM_001018116 MURC EXON Missense_R231K exm767525 9 103348393 [A/G] NM_001018116 MURC EXON Missense_G252E exm767529 9 103348476 [T/C] NM_001018116 MURC EXON Nonsense_R280X exm2271211 9 103598789 [T/G] exm767548 9 103947810 [T/G] NM_207299,NM_017753 LPPR1,LPPR1 EXON Missense_S12A,Missense_S12A exm2259055 9 104020751 [T/C] NM_207299,NM_017753 LPPR1,LPPR1 Silent,Silent exm767561 9 104048416 [A/G] NM_207299,NM_017753 LPPR1,LPPR1 EXON Missense_I95V,Missense_I95V exm767611 9 104124952 [T/G] NM_001127610,NM_001701 BAAT,BAAT EXON Missense_Q339K,Missense_Q339K exm2179474 9 104124959 [A/G] NM_001127610,NM_001701 BAAT,BAAT EXON Synonymous_H336H,Synonymous_H336H exm767613 9 104124970 [T/C] NM_001127610,NM_001701 BAAT,BAAT EXON Missense_S333G,Missense_S333G exm767617 9 104125056 [A/G] NM_001127610,NM_001701 BAAT,BAAT EXON Missense_V304A,Missense_V304A exm767631 9 104125282 [T/C] NM_001127610,NM_001701 BAAT,BAAT EXON Missense_V229I,Missense_V229I exm767633 9 104130419 [A/G] NM_001127610,NM_001701 BAAT,BAAT EXON Missense_L218F,Missense_L218F exm767635 9 104130469 [C/G] NM_001127610,NM_001701 BAAT,BAAT EXON Missense_R201P,Missense_R201P exm767641 9 104133278 [T/C] NM_001127610,NM_001701 BAAT,BAAT EXON Missense_V137I,Missense_V137I exm767642 9 104133284 [G/C] NM_001127610,NM_001701 BAAT,BAAT EXON Missense_P135A,Missense_P135A exm767645 9 104133346 [T/A] NM_001127610,NM_001701 BAAT,BAAT EXON Missense_V114E,Missense_V114E exm767658 9 104133628 [T/C] NM_001127610,NM_001701 BAAT,BAAT EXON Missense_R20Q,Missense_R20Q exm767681 9 104153013 [T/C] NM_019051 MRPL50 EXON Missense_E71G exm767682 9 104153019 [T/C] NM_019051 MRPL50 EXON Missense_R69H exm767684 9 104153052 [T/C] NM_019051 MRPL50 EXON Missense_R58Q exm767715 9 104170241 [G/C] NM_197977,NM_003452 ZNF189,ZNF189 EXON Missense_P22R,Missense_P64R exm767717 9 104170336 [A/G] NM_197977,NM_003452 ZNF189,ZNF189 EXON Missense_M54V,Missense_M96V exm767721 9 104170465 [A/G] NM_197977,NM_003452 ZNF189,ZNF189 EXON Missense_K97E,Missense_K139E exm767725 9 104170526 [A/G] NM_197977,NM_003452 ZNF189,ZNF189 EXON Missense_R117H,Missense_R159H exm767727 9 104170580 [A/G] NM_197977,NM_003452 ZNF189,ZNF189 EXON Missense_Q135R,Missense_Q177R exm2247309 9 104171069 [C/G] NM_197977,NM_003452 ZNF189,ZNF189 EXON Missense_G298A,Missense_G340A exm2259056 9 104171523 [A/G] NM_197977,NM_003452 ZNF189,ZNF189 EXON Synonymous_K449K,Synonymous_K491K exm767759 9 104171608 [A/G] NM_197977,NM_003452 ZNF189,ZNF189 EXON Missense_S478G,Missense_S520G exm767766 9 104171753 [A/G] NM_197977,NM_003452 ZNF189,ZNF189 EXON Missense_Y526C,Missense_Y568C exm767769 9 104171770 [A/G] NM_197977,NM_003452 ZNF189,ZNF189 EXON Missense_D532N,Missense_D574N exm767771 9 104171804 [A/G] NM_197977,NM_003452 ZNF189,ZNF189 EXON Missense_N543S,Missense_N585S exm767772 9 104171845 [G/C] NM_197977,NM_003452 ZNF189,ZNF189 EXON Missense_H557D,Missense_H599D exm767776 9 104171881 [T/C] NM_197977,NM_003452 ZNF189,ZNF189 EXON Missense_R569C,Missense_R611C exm767777 9 104171882 [A/G] NM_197977,NM_003452 ZNF189,ZNF189 EXON Missense_R569H,Missense_R611H exm767778 9 104171915 [T/C] NM_197977,NM_003452 ZNF189,ZNF189 EXON Missense_T580I,Missense_T622I exm767788 9 104187133 [A/G] NM_000035 ALDOB EXON Missense_R331W exm767792 9 104187213 [T/C] NM_000035 ALDOB EXON Missense_R304Q exm767803 9 104188842 [G/C] NM_000035 ALDOB EXON Missense_E207Q exm767808 9 104188918 [A/C] NM_000035 ALDOB EXON Missense_N181K exm767810 9 104189775 [T/C] NM_000035 ALDOB EXON Missense_I177V exm767812 9 104189780 [T/G] NM_000035 ALDOB EXON Missense_A175D exm767815 9 104189816 [A/G] NM_000035 ALDOB EXON Missense_A163V exm767819 9 104189856 [G/C] NM_000035 ALDOB EXON Missense_A150P exm767820 9 104189859 [A/G] NM_000035 ALDOB EXON Missense_R149C exm767823 9 104189904 [T/G] NM_000035 ALDOB EXON Missense_R134S exm767825 9 104190765 [T/C] NM_000035 ALDOB EXON Missense_E122G exm767834 9 104192182 [T/C] NM_000035 ALDOB EXON Missense_R60Q exm767835 9 104192183 [A/G] NM_000035 ALDOB EXON Nonsense_R60X exm767837 9 104192195 [A/G] NM_000035 ALDOB EXON Missense_R56C exm767854 9 104238341 [T/C] NM_032342 TMEM246 EXON Missense_R345H exm767859 9 104238467 [A/C] NM_032342 TMEM246 EXON Missense_G303V exm767867 9 104238756 [T/C] NM_032342 TMEM246 EXON Missense_V207I exm2179533 9 104238966 [T/C] NM_032342 TMEM246 EXON Missense_E137K exm767877 9 104239023 [T/C] NM_032342 TMEM246 EXON Missense_V118I exm767884 9 104239241 [T/C] NM_032342 TMEM246 EXON Missense_R45Q exm767887 9 104239293 [A/C] NM_032342 TMEM246 EXON Missense_F28V exm767896 9 104239368 [T/C] NM_032342 TMEM246 EXON Missense_T3A exm2271119 9 104291812 [T/C] exm767912 9 104303174 [A/G] NM_019592 RNF20 EXON Missense_R182H exm767919 9 104307096 [A/G] NM_019592 RNF20 EXON Missense_A226T exm767922 9 104307151 [A/G] NM_019592 RNF20 EXON Missense_R244H exm767923 9 104309141 [T/C] NM_019592 RNF20 EXON Nonsense_R263X exm767935 9 104312906 [T/G] NM_019592 RNF20 EXON Missense_V371L exm767942 9 104313033 [A/G] NM_019592 RNF20 EXON Missense_R413K exm767943 9 104314024 [T/C] NM_019592 RNF20 EXON Missense_T444I exm767950 9 104314689 [T/C] NM_019592 RNF20 EXON Missense_L519F exm767953 9 104314753 [T/C] NM_019592 RNF20 EXON Missense_S540F exm767978 9 104323402 [T/C] NM_019592 RNF20 EXON Missense_L847F exm767979 9 104323459 [A/G] NM_019592 RNF20 EXON Missense_V866M exm767992 9 104335472 [T/C] NM_133445 GRIN3A EXON Missense_R1111Q exm767994 9 104335535 [T/C] NM_133445 GRIN3A EXON Missense_R1090H exm767995 9 104335549 [C/G] NM_133445 GRIN3A EXON Missense_Q1085H exm767998 9 104335586 [T/A] NM_133445 GRIN3A EXON Missense_N1073I exm768001 9 104335619 [T/C] NM_133445 GRIN3A EXON Missense_N1062S exm768002 9 104335628 [T/C] NM_133445 GRIN3A EXON Missense_R1059Q exm768008 9 104335682 [T/C] NM_133445 GRIN3A EXON Missense_R1041Q exm768013 9 104335754 [A/G] NM_133445 GRIN3A EXON Missense_S1017F exm768014 9 104335767 [T/C] NM_133445 GRIN3A EXON Missense_V1013I exm2259057 9 104340121 [T/C] NM_133445 GRIN3A EXON Synonymous_L979L exm768021 9 104341543 [A/G] NM_133445 GRIN3A EXON Missense_Y956H exm768025 9 104341634 [A/T] NM_133445 GRIN3A EXON Missense_Q925H exm768034 9 104356903 [A/T] NM_133445,NM_147180 GRIN3A,PPP3R2 EXON Silent,Missense_M104L exm768039 9 104357008 [T/C] NM_133445,NM_147180 GRIN3A,PPP3R2 EXON Silent,Missense_G69S exm768045 9 104357062 [T/C] NM_133445,NM_147180 GRIN3A,PPP3R2 EXON Silent,Missense_E51K exm768059 9 104375804 [T/C] NM_133445 GRIN3A EXON Missense_G874S exm768064 9 104385711 [T/C] NM_133445 GRIN3A EXON Missense_D835N exm768071 9 104390659 [T/G] NM_133445 GRIN3A EXON Missense_R793S exm768076 9 104432385 [T/C] NM_133445 GRIN3A EXON Missense_G770D exm768080 9 104432466 [T/C] NM_133445 GRIN3A EXON Missense_R743K exm768087 9 104432715 [T/C] NM_133445 GRIN3A EXON Missense_R660Q exm768101 9 104432936 [G/C] NM_133445 GRIN3A EXON Missense_K586N exm768107 9 104433048 [T/C] NM_133445 GRIN3A EXON Missense_N549S exm2179600 9 104433232 [T/C] NM_133445 GRIN3A EXON Missense_K488E exm768113 9 104433234 [A/C] NM_133445 GRIN3A EXON Missense_G487V exm768114 9 104433235 [T/C] NM_133445 GRIN3A EXON Missense_G487R exm768115 9 104433255 [T/C] NM_133445 GRIN3A EXON Missense_R480H exm768116 9 104433267 [A/G] NM_133445 GRIN3A EXON Missense_P476L exm768126 9 104449017 [T/C] NM_133445 GRIN3A EXON Missense_V389I exm768128 9 104449058 [A/G] NM_133445 GRIN3A EXON Missense_I375T exm768130 9 104449098 [T/C] NM_133445 GRIN3A EXON Missense_V362M exm768148 9 104449402 [T/G] NM_133445 GRIN3A EXON Missense_N260K exm768159 9 104499886 [T/C] NM_133445 GRIN3A EXON Missense_D126N exm-rs10989661 9 104622868 [A/G] exm2271212 9 104686402 [T/G] exm2264353 9 104924928 [A/C] exm-rs320209 9 104944755 [T/A] exm-rs10820100 9 104989394 [T/C] exm2262565 9 105009468 [A/G] exm2271120 9 105412545 [T/C] exm-rs1342899 9 105735195 [T/C] exm768189 9 105765465 [A/G] NM_001340 CYLC2 EXON Missense_A34T exm768196 9 105765538 [T/C] NM_001340 CYLC2 EXON Missense_T58M exm768197 9 105767008 [A/G] NM_001340 CYLC2 EXON Missense_R71H exm768202 9 105767074 [T/C] NM_001340 CYLC2 EXON Missense_A93V exm768206 9 105767091 [A/C] NM_001340 CYLC2 EXON Missense_L99I exm768210 9 105767283 [A/C] NM_001340 CYLC2 EXON Missense_Q124K exm768217 9 105767349 [T/G] NM_001340 CYLC2 EXON Missense_D146Y exm768222 9 105767404 [T/G] NM_001340 CYLC2 EXON Missense_G164V exm768228 9 105767437 [T/C] NM_001340 CYLC2 EXON Missense_A175V exm768231 9 105767464 [A/G] NM_001340 CYLC2 EXON Missense_G184D exm768234 9 105767481 [A/G] NM_001340 CYLC2 EXON Missense_K190E exm768242 9 105767536 [A/G] NM_001340 CYLC2 EXON Missense_G208D exm768243 9 105767545 [G/C] NM_001340 CYLC2 EXON Missense_G211A exm768245 9 105767578 [A/G] NM_001340 CYLC2 EXON Missense_K222R exm768248 9 105767645 [A/T] NM_001340 CYLC2 EXON Missense_D244E exm768258 9 105767773 [A/G] NM_001340 CYLC2 EXON Missense_D287G exm2259061 9 105767798 [T/C] NM_001340 CYLC2 EXON Synonymous_D295D exm768260 9 105767799 [A/G] NM_001340 CYLC2 EXON Missense_A296T exm768261 9 105767803 [T/C] NM_001340 CYLC2 EXON Missense_T297M exm768264 9 105767869 [A/C] NM_001340 CYLC2 EXON Missense_A319E exm768270 9 105767917 [T/C] NM_001340 CYLC2 EXON Missense_A335V exm2247322 9 105779244 [A/G] NM_001340 CYLC2 Silent exm2271213 9 106058590 [T/C] exm2266859 9 106571202 [A/G] exm2179650 9 106857824 [C/G] NM_001042551,NM_001265602,NM_006444,NM_001042550 SMC2,SMC2,SMC2,SMC2 EXON Missense_N53K,Missense_N53K,Missense_N53K,Missense_N53K exm768279 9 106857829 [G/C] NM_001042551,NM_001265602,NM_006444,NM_001042550 SMC2,SMC2,SMC2,SMC2 EXON Missense_S55C,Missense_S55C,Missense_S55C,Missense_S55C exm768286 9 106860779 [A/C] NM_001042551,NM_001265602,NM_006444,NM_001042550 SMC2,SMC2,SMC2,SMC2 EXON Missense_N124T,Missense_N124T,Missense_N124T,Missense_N124T exm768292 9 106862428 [A/G] NM_001042551,NM_001265602,NM_006444,NM_001042550 SMC2,SMC2,SMC2,SMC2 EXON Missense_I179V,Missense_I179V,Missense_I179V,Missense_I179V exm2247323 9 106862483 [T/C] NM_001042551,NM_001265602,NM_006444,NM_001042550 SMC2,SMC2,SMC2,SMC2 EXON Missense_T197M,Missense_T197M,Missense_T197M,Missense_T197M exm768302 9 106864334 [T/G] NM_001042551,NM_001265602,NM_006444,NM_001042550 SMC2,SMC2,SMC2,SMC2 EXON Missense_D244Y,Missense_D244Y,Missense_D244Y,Missense_D244Y exm768305 9 106864433 [T/C] NM_001042551,NM_001265602,NM_006444,NM_001042550 SMC2,SMC2,SMC2,SMC2 EXON Missense_L277F,Missense_L277F,Missense_L277F,Missense_L277F exm768312 9 106864807 [A/G] NM_001042551,NM_001265602,NM_006444,NM_001042550 SMC2,SMC2,SMC2,SMC2 EXON Missense_A325T,Missense_A325T,Missense_A325T,Missense_A325T exm2179669 9 106864825 [T/C] NM_001042551,NM_001265602,NM_006444,NM_001042550 SMC2,SMC2,SMC2,SMC2 EXON Missense_R331C,Missense_R331C,Missense_R331C,Missense_R331C exm768318 9 106874040 [T/G] NM_001042551,NM_001265602,NM_006444,NM_001042550 SMC2,SMC2,SMC2,SMC2 EXON Missense_G400V,Missense_G400V,Missense_G400V,Missense_G400V exm768337 9 106876980 [A/G] NM_001042551,NM_001265602,NM_006444,NM_001042550 SMC2,SMC2,SMC2,SMC2 EXON Missense_E514G,Missense_E514G,Missense_E514G,Missense_E514G exm768338 9 106877022 [T/C] NM_001042551,NM_001265602,NM_006444,NM_001042550 SMC2,SMC2,SMC2,SMC2 EXON Missense_S528F,Missense_S528F,Missense_S528F,Missense_S528F exm768342 9 106877096 [A/G] NM_001042551,NM_001265602,NM_006444,NM_001042550 SMC2,SMC2,SMC2,SMC2 EXON Missense_V553I,Missense_V553I,Missense_V553I,Missense_V553I exm768347 9 106878524 [A/G] NM_001042551,NM_001265602,NM_006444,NM_001042550 SMC2,SMC2,SMC2,SMC2 EXON Missense_R572Q,Missense_R572Q,Missense_R572Q,Missense_R572Q exm768357 9 106880515 [T/G] NM_001042551,NM_001265602,NM_006444,NM_001042550 SMC2,SMC2,SMC2,SMC2 EXON Missense_A619S,Missense_A619S,Missense_A619S,Missense_A619S exm768370 9 106882398 [A/G] NM_001042551,NM_001265602,NM_006444,NM_001042550 SMC2,SMC2,SMC2,SMC2 EXON Missense_R696Q,Missense_R696Q,Missense_R696Q,Missense_R696Q exm768374 9 106885402 [A/C] NM_001042551,NM_001265602,NM_006444,NM_001042550 SMC2,SMC2,SMC2,SMC2 EXON Missense_K716Q,Missense_K716Q,Missense_K716Q,Missense_K716Q exm768376 9 106885507 [A/G] NM_001042551,NM_001265602,NM_006444,NM_001042550 SMC2,SMC2,SMC2,SMC2 EXON Missense_T751A,Missense_T751A,Missense_T751A,Missense_T751A exm768381 9 106887288 [A/G] NM_001042551,NM_001265602,NM_006444,NM_001042550 SMC2,SMC2,SMC2,SMC2 EXON Missense_A785T,Missense_A785T,Missense_A785T,Missense_A785T exm768389 9 106889571 [T/C] NM_001042551,NM_001265602,NM_006444,NM_001042550 SMC2,SMC2,SMC2,SMC2 EXON Missense_S867L,Missense_S867L,Missense_S867L,Missense_S867L exm768400 9 106892019 [G/C] NM_001042551,NM_001265602,NM_006444,NM_001042550 SMC2,SMC2,SMC2,SMC2 EXON Missense_P962A,Missense_P962A,Missense_P962A,Missense_P962A exm768401 9 106892044 [A/G] NM_001042551,NM_001265602,NM_006444,NM_001042550 SMC2,SMC2,SMC2,SMC2 EXON Missense_Q970R,Missense_Q970R,Missense_Q970R,Missense_Q970R exm768405 9 106894294 [A/G] NM_001042551,NM_001265602,NM_006444,NM_001042550 SMC2,SMC2,SMC2,SMC2 EXON Missense_N999S,Missense_N999S,Missense_N999S,Missense_N999S exm768411 9 106896757 [T/C] NM_001042551,NM_001265602,NM_006444,NM_001042550 SMC2,SMC2,SMC2,SMC2 EXON Missense_A1057V,Missense_A1057V,Missense_A1057V,Missense_A1057V exm768415 9 106896799 [A/G] NM_001042551,NM_001265602,NM_006444,NM_001042550 SMC2,SMC2,SMC2,SMC2 EXON Missense_K1071R,Missense_K1071R,Missense_K1071R,Missense_K1071R exm-rs867977 9 107056847 [T/C] exm2262568 9 107112483 [T/C] exm768435 9 107266577 [T/C] NM_001004485 OR13F1 EXON Missense_F12L exm768436 9 107266587 [T/G] NM_001004485 OR13F1 EXON Missense_L15R exm768437 9 107266596 [T/C] NM_001004485 OR13F1 EXON Missense_F18S exm768438 9 107266626 [T/C] NM_001004485 OR13F1 EXON Missense_F28S exm768439 9 107266629 [T/C] NM_001004485 OR13F1 EXON Missense_A29V exm768441 9 107266671 [T/C] NM_001004485 OR13F1 EXON Missense_I43T exm768447 9 107266773 [T/C] NM_001004485 OR13F1 EXON Missense_A77V exm768452 9 107266824 [T/C] NM_001004485 OR13F1 EXON Missense_F94S exm768453 9 107266833 [A/G] NM_001004485 OR13F1 EXON Missense_C97Y exm768455 9 107266835 [A/G] NM_001004485 OR13F1 EXON Missense_A98T exm768458 9 107266844 [A/G] NM_001004485 OR13F1 EXON Missense_M101V exm768460 9 107266896 [T/C] NM_001004485 OR13F1 EXON Missense_M118T exm768461 9 107266898 [A/G] NM_001004485 OR13F1 EXON Missense_A119T exm768467 9 107266943 [A/G] NM_001004485 OR13F1 EXON Missense_V134I exm768481 9 107267304 [T/C] NM_001004485 OR13F1 EXON Missense_T254M exm768485 9 107267352 [T/C] NM_001004485 OR13F1 EXON Missense_I270T exm768488 9 107267381 [A/G] NM_001004485 OR13F1 EXON Missense_G280R exm2271121 9 107285564 [T/G] exm768492 9 107288540 [G/C] NM_001001919 OR13C4 EXON Missense_N317K exm768495 9 107288586 [T/C] NM_001001919 OR13C4 EXON Missense_D302G exm768501 9 107288714 [A/C] NM_001001919 OR13C4 EXON Nonsense_Y259X exm768508 9 107288808 [A/G] NM_001001919 OR13C4 EXON Missense_T228M exm768512 9 107288832 [A/G] NM_001001919 OR13C4 EXON Missense_F220S exm768513 9 107288835 [A/C] NM_001001919 OR13C4 EXON Missense_M219R exm768514 9 107288841 [A/G] NM_001001919 OR13C4 EXON Missense_S217F exm768516 9 107288995 [A/G] NM_001001919 OR13C4 EXON Missense_W166R exm768517 9 107288997 [T/C] NM_001001919 OR13C4 EXON Missense_R165Q exm768518 9 107289024 [G/C] NM_001001919 OR13C4 EXON Nonsense_S156X exm768522 9 107289087 [T/A] NM_001001919 OR13C4 EXON Missense_I135N exm2179742 9 107289157 [T/A] NM_001001919 OR13C4 EXON Missense_C112S exm768524 9 107289172 [T/C] NM_001001919 OR13C4 EXON Missense_M107V exm768534 9 107289352 [T/C] NM_001001919 OR13C4 EXON Missense_I47V exm768535 9 107289363 [T/C] NM_001001919 OR13C4 EXON Missense_G43D exm768538 9 107289385 [T/C] NM_001001919 OR13C4 EXON Missense_V36I exm768543 9 107298055 [T/C] NM_001001961 OR13C3 EXON Missense_H347R exm768550 9 107298178 [A/G] NM_001001961 OR13C3 EXON Missense_L306S exm768552 9 107298217 [T/G] NM_001001961 OR13C3 EXON Missense_K293T exm768555 9 107298226 [A/G] NM_001001961 OR13C3 EXON Missense_A290V exm768556 9 107298241 [A/G] NM_001001961 OR13C3 EXON Missense_I285T exm768561 9 107298322 [A/G] NM_001001961 OR13C3 EXON Missense_M258T exm768568 9 107298410 [T/C] NM_001001961 OR13C3 EXON Missense_M229V exm2259066 9 107298465 [T/C] NM_001001961 OR13C3 EXON Synonymous_E210E exm768574 9 107298472 [A/G] NM_001001961 OR13C3 EXON Missense_A208V exm2179746 9 107298536 [T/C] NM_001001961 OR13C3 EXON Missense_A187T exm2247326 9 107298743 [T/C] NM_001001961 OR13C3 EXON Missense_K118E exm768594 9 107298827 [A/G] NM_001001961 OR13C3 EXON Missense_Y90H exm768595 9 107298842 [A/G] NM_001001961 OR13C3 EXON Missense_F85L exm768596 9 107298862 [T/G] NM_001001961 OR13C3 EXON Missense_A78D exm768597 9 107298863 [T/C] NM_001001961 OR13C3 EXON Missense_A78T exm768601 9 107298916 [A/G] NM_001001961 OR13C3 EXON Missense_L60P exm768602 9 107299001 [A/C] NM_001001961 OR13C3 EXON Missense_G32C exm768604 9 107299051 [T/C] NM_001001961 OR13C3 EXON Missense_N15S exm768607 9 107331464 [A/G] NM_001004483 OR13C8 EXON Missense_D6N exm768610 9 107331474 [A/C] NM_001004483 OR13C8 EXON Nonsense_S9X exm768611 9 107331504 [A/C] NM_001004483 OR13C8 EXON Missense_A19D exm768612 9 107331506 [T/C] NM_001004483 OR13C8 EXON Missense_H20Y exm768615 9 107331618 [T/C] NM_001004483 OR13C8 EXON Missense_T57I exm768618 9 107331700 [A/C] NM_001004483 OR13C8 EXON Missense_S84R exm2179751 9 107331722 [G/C] NM_001004483 OR13C8 EXON Missense_V92L exm768621 9 107331734 [A/G] NM_001004483 OR13C8 EXON Missense_G96R exm768630 9 107331973 [A/C] NM_001004483 OR13C8 EXON Missense_K175N exm768638 9 107332160 [T/G] NM_001004483 OR13C8 EXON Missense_F238V exm768642 9 107332343 [T/C] NM_001004483 OR13C8 EXON Nonsense_R299X exm768643 9 107332344 [A/G] NM_001004483 OR13C8 EXON Missense_R299Q exm768645 9 107332377 [A/T] NM_001004483 OR13C8 EXON Missense_I310K exm768647 9 107332410 [A/G] NM_001004483 OR13C8 EXON Synonymous_X321X exm768649 9 107360778 [A/G] NM_001004482 OR13C5 EXON Missense_A306V exm768650 9 107360826 [A/G] NM_001004482 OR13C5 EXON Missense_M290T exm768651 9 107360851 [T/C] NM_001004482 OR13C5 EXON Missense_I282V exm768654 9 107360902 [T/G] NM_001004482 OR13C5 EXON Missense_Q265K exm768655 9 107360910 [A/G] NM_001004482 OR13C5 EXON Missense_P262L exm768656 9 107360922 [A/G] NM_001004482 OR13C5 EXON Missense_M258T exm768661 9 107361003 [A/G] NM_001004482 OR13C5 EXON Missense_S231L exm768662 9 107361009 [G/C] NM_001004482 OR13C5 EXON Missense_S229T exm768668 9 107361059 [T/G] NM_001004482 OR13C5 EXON Missense_L212F exm2247328 9 107361627 [A/T] NM_001004482 OR13C5 EXON Missense_L23H exm768705 9 107361642 [A/G] NM_001004482 OR13C5 EXON Missense_S18F exm768707 9 107361680 [G/C] NM_001004482 OR13C5 EXON Missense_N5K exm768710 9 107366956 [T/C] NM_001004481 OR13C2 EXON Missense_K318R exm768736 9 107367222 [T/G] NM_001004481 OR13C2 EXON Missense_S229R exm768746 9 107367368 [T/G] NM_001004481 OR13C2 EXON Missense_I181L exm2179790 9 107379712 [A/C] NM_001001956 OR13C9 EXON Missense_M258I exm768791 9 107379798 [A/G] NM_001001956 OR13C9 EXON Missense_S230P exm768794 9 107379895 [T/G] NM_001001956 OR13C9 EXON Missense_F197L exm768800 9 107380050 [T/C] NM_001001956 OR13C9 EXON Missense_V146I exm2247332 9 107380385 [A/G] NM_001001956 OR13C9 EXON Missense_M34T exm768822 9 107380440 [G/C] NM_001001956 OR13C9 EXON Missense_G16R exm768825 9 107456763 [T/C] NM_001004484 OR13D1 EXON Missense_F21L exm768826 9 107456841 [A/G] NM_001004484 OR13D1 EXON Missense_V47M exm768827 9 107456844 [A/G] NM_001004484 OR13D1 EXON Missense_G48R exm768840 9 107456995 [T/A] NM_001004484 OR13D1 EXON Missense_L98H exm768860 9 107457376 [T/C] NM_001004484 OR13D1 EXON Missense_T225I exm768864 9 107457505 [A/G] NM_001004484 OR13D1 EXON Missense_K268R exm768871 9 107457686 [T/G] NM_001004484 OR13D1 EXON Missense_E328D exm2259069 9 107457725 [A/G] NM_001004484 OR13D1 EXON Synonymous_L341L exm768881 9 107513256 [T/C] NM_015469 NIPSNAP3A EXON Missense_T27M exm768890 9 107515201 [T/C] NM_015469 NIPSNAP3A EXON Nonsense_R96X exm768893 9 107515214 [A/G] NM_015469 NIPSNAP3A EXON Missense_R100Q exm768901 9 107515339 [A/G] NM_015469 NIPSNAP3A EXON Missense_K142E exm768904 9 107516849 [T/A] NM_015469 NIPSNAP3A EXON Missense_T150S exm768913 9 107516969 [A/G] NM_015469 NIPSNAP3A EXON Missense_A190T exm768920 9 107521609 [T/C] NM_015469 NIPSNAP3A EXON Missense_P245L exm2259070 9 107526539 [T/C] NM_018376 NIPSNAP3B EXON Synonymous_S6S exm768933 9 107528642 [A/G] NM_018376 NIPSNAP3B EXON Missense_D33N exm768934 9 107528655 [T/A] NM_018376 NIPSNAP3B EXON Missense_Y37F exm768935 9 107528663 [T/C] NM_018376 NIPSNAP3B EXON Missense_R40C exm768939 9 107528726 [A/C] NM_018376 NIPSNAP3B EXON Missense_H61N exm768942 9 107531152 [C/G] NM_018376 NIPSNAP3B EXON Missense_A94P exm768944 9 107531159 [A/G] NM_018376 NIPSNAP3B EXON Missense_R96Q exm768952 9 107533159 [A/G] NM_018376 NIPSNAP3B EXON Missense_K154E exm768953 9 107533175 [G/C] NM_018376 NIPSNAP3B EXON Missense_A159G exm768954 9 107533232 [A/C] NM_018376 NIPSNAP3B EXON Missense_T178K exm768955 9 107533244 [G/C] NM_018376 NIPSNAP3B EXON Missense_G182A exm768956 9 107533267 [A/G] NM_018376 NIPSNAP3B EXON Missense_E190K exm768961 9 107535190 [A/G] NM_018376 NIPSNAP3B Silent exm768962 9 107535280 [T/C] NM_018376 NIPSNAP3B EXON Missense_R224W exm768966 9 107546652 [T/C] NM_005502 ABCA1 EXON Missense_V2244I exm768967 9 107546653 [T/G] NM_005502 ABCA1 EXON Missense_D2243E exm2259071 9 107547872 [T/C] NM_005502 ABCA1 EXON Synonymous_P2150P exm768994 9 107554263 [T/C] NM_005502 ABCA1 EXON Missense_R1925Q exm768998 9 107555077 [T/G] NM_005502 ABCA1 EXON Missense_E1916A exm769008 9 107555572 [T/C] NM_005502 ABCA1 EXON Missense_R1839H exm769012 9 107556776 [T/G] NM_005502 ABCA1 EXON Missense_N1800H exm769023 9 107558434 [T/G] NM_005502 ABCA1 EXON Missense_K1761T exm769030 9 107560784 [T/C] NM_005502 ABCA1 EXON Missense_R1680Q exm769032 9 107560803 [T/C] NM_005502 ABCA1 EXON Missense_V1674I exm2247336 9 107562101 [C/G] NM_005502 ABCA1 EXON Missense_L1648V exm769034 9 107562151 [A/G] NM_005502 ABCA1 EXON Missense_A1631V exm769038 9 107562804 [T/C] NM_005502 ABCA1 EXON Missense_K1587R exm2262569 9 107571241 [T/C] NM_005502 ABCA1 Silent exm769059 9 107571771 [T/C] NM_005502 ABCA1 EXON Missense_R1417H exm2247337 9 107571799 [A/G] NM_005502 ABCA1 EXON Missense_L1408F exm769067 9 107573130 [T/C] NM_005502 ABCA1 EXON Missense_S1376G exm769082 9 107576732 [T/G] NM_005502 ABCA1 EXON Missense_S1255R exm2259072 9 107576739 [A/G] NM_005502 ABCA1 EXON Synonymous_A1252A exm769091 9 107578578 [T/C] NM_005502 ABCA1 EXON Missense_R1195Q exm769095 9 107578618 [T/C] NM_005502 ABCA1 EXON Missense_A1182T exm769096 9 107578620 [A/G] NM_005502 ABCA1 EXON Missense_S1181F exm769097 9 107579624 [A/G] NM_005502 ABCA1 EXON Missense_T1175M exm769098 9 107579632 [G/C] NM_005502 ABCA1 EXON Missense_E1172D exm769117 9 107582258 [T/C] NM_005502 ABCA1 EXON Missense_D1018G exm769118 9 107582275 [T/C] NM_005502 ABCA1 EXON Missense_M1012I exm769141 9 107584945 [A/C] NM_005502 ABCA1 EXON Missense_C887F exm769142 9 107586753 [T/C] NM_005502 ABCA1 EXON Missense_I883M exm769153 9 107588033 [T/C] NM_005502 ABCA1 EXON Missense_V825I exm769156 9 107588062 [T/C] NM_005502 ABCA1 EXON Missense_E815G exm769164 9 107589238 [C/G] NM_005502 ABCA1 EXON Missense_K776N exm769165 9 107589246 [T/G] NM_005502 ABCA1 EXON Missense_T774P exm769174 9 107591223 [T/C] NM_005502 ABCA1 EXON Missense_A697T exm769191 9 107593318 [T/C] NM_005502 ABCA1 EXON Missense_A594T exm769192 9 107593329 [G/C] NM_005502 ABCA1 EXON Missense_W590S exm2179937 9 107593333 [T/C] NM_005502 ABCA1 EXON Missense_V589I exm769195 9 107593382 [T/C] NM_005502 ABCA1 EXON Synonymous_G572G exm2259073 9 107594088 [T/C] NM_005502 ABCA1 EXON Synonymous_L510L exm-rs2515629 9 107594364 [A/G] NM_005502 ABCA1 Silent exm769210 9 107595026 [G/C] NM_005502 ABCA1 EXON Missense_D446E exm769216 9 107599376 [A/G] NM_005502 ABCA1 EXON Missense_V399A exm769226 9 107602586 [A/G] NM_005502 ABCA1 EXON Missense_A343V exm769237 9 107607822 [A/G] NM_005502 ABCA1 EXON Missense_P250L exm769250 9 107620835 [A/G] NM_005502 ABCA1 EXON Missense_R230C exm769256 9 107620889 [T/A] NM_005502 ABCA1 EXON Missense_S212T exm769280 9 107646756 [A/G] NM_005502 ABCA1 EXON Missense_P85L exm-rs4149268 9 107647220 [T/C] NM_005502 ABCA1 Silent exm-rs3890182 9 107647655 [A/G] NM_005502 ABCA1 Silent exm769282 9 107651440 [T/C] NM_005502 ABCA1 EXON Missense_I35V exm-rs3905000 9 107657070 [A/G] NM_005502 ABCA1 Silent exm-rs1883025 9 107664301 [T/C] NM_005502 ABCA1 Silent exm2271122 9 107787214 [T/C] exm769303 9 108097888 [A/G] NM_080546 SLC44A1 EXON Missense_R105Q exm769307 9 108097942 [A/G] NM_080546 SLC44A1 EXON Missense_K123R exm769309 9 108110668 [T/C] NM_080546 SLC44A1 EXON Missense_P146S exm769312 9 108118569 [A/G] NM_080546 SLC44A1 EXON Missense_T193A exm769322 9 108123570 [T/C] NM_080546 SLC44A1 EXON Missense_R287W exm769327 9 108125138 [T/C] NM_080546 SLC44A1 EXON Missense_R313C exm769328 9 108125144 [T/G] NM_080546 SLC44A1 EXON Missense_A315S exm2259074 9 108125155 [A/C] NM_080546 SLC44A1 EXON Synonymous_I318I exm769329 9 108125155 [A/C] NM_080546 SLC44A1 EXON Synonymous_I318I exm769334 9 108125283 [G/C] NM_080546 SLC44A1 EXON Missense_T361S exm769343 9 108127816 [A/G] NM_080546 SLC44A1 EXON Missense_I436V exm769347 9 108127877 [T/C] NM_080546 SLC44A1 EXON Missense_P456L exm769349 9 108136888 [A/G] NM_080546 SLC44A1 EXON Missense_T502A exm769363 9 108147763 [T/G] NM_080546 SLC44A1 EXON Missense_S644A exm769367 9 108151318 [T/C] NM_080546 SLC44A1 EXON Missense_S652L exm769382 9 108230553 [T/G] NM_031919,NM_001145313,NM_207647 FSD1L,FSD1L,FSD1L EXON Missense_S64I,Missense_S96I,Missense_S64I exm769385 9 108230585 [T/C] NM_031919,NM_001145313,NM_207647 FSD1L,FSD1L,FSD1L EXON Missense_R75C,Missense_R107C,Missense_R75C exm769387 9 108234207 [A/G] NM_031919,NM_001145313,NM_207647 FSD1L,FSD1L,FSD1L EXON Missense_N89S,Missense_N121S,Missense_N89S exm769388 9 108234238 [A/C] NM_031919,NM_001145313,NM_207647 FSD1L,FSD1L,FSD1L EXON Missense_E99D,Missense_E131D,Missense_E99D exm769389 9 108234242 [T/G] NM_031919,NM_001145313,NM_207647 FSD1L,FSD1L,FSD1L EXON Missense_A101S,Missense_A133S,Missense_A101S exm769391 9 108234294 [A/G] NM_031919,NM_001145313,NM_207647 FSD1L,FSD1L,FSD1L EXON Missense_K118R,Silent,Silent exm769396 9 108234375 [A/G] NM_031919,NM_001145313,NM_207647 FSD1L,FSD1L,FSD1L EXON Missense_Y145C,Silent,Silent exm769408 9 108270937 [A/G] NM_001145313,NM_207647 FSD1L,FSD1L EXON Missense_R279Q,Missense_R247Q exm769415 9 108337338 [T/G] NM_006731,NM_001198963,NM_001079802 FKTN,FKTN,FKTN EXON Missense_V9F,Missense_V9F,Missense_V9F exm769416 9 108337354 [T/C] NM_006731,NM_001198963,NM_001079802 FKTN,FKTN,FKTN EXON Missense_T14M,Missense_T14M,Missense_T14M exm769424 9 108363426 [T/C] NM_006731,NM_001198963,NM_001079802 FKTN,FKTN,FKTN EXON Missense_R56C,Missense_R56C,Missense_R56C exm769425 9 108363427 [A/G] NM_006731,NM_001198963,NM_001079802 FKTN,FKTN,FKTN EXON Missense_R56H,Missense_R56H,Missense_R56H exm769432 9 108366499 [A/G] NM_006731,NM_001198963,NM_001079802 FKTN,FKTN,FKTN EXON Missense_G125S,Missense_G125S,Missense_G125S exm769440 9 108366734 [A/G] NM_006731,NM_001198963,NM_001079802 FKTN,FKTN,FKTN EXON Missense_R203Q,Missense_R203Q,Missense_R203Q exm769441 9 108370120 [T/C] NM_006731,NM_001198963,NM_001079802 FKTN,FKTN,FKTN EXON Missense_T223I,Missense_T223I,Missense_T223I exm769461 9 108382226 [G/C] NM_006731,NM_001198963,NM_001079802 FKTN,FKTN,FKTN EXON Missense_S352R,Missense_S352R,Missense_S352R exm769465 9 108382329 [A/G] NM_006731,NM_001198963,NM_001079802 FKTN,FKTN,FKTN EXON Missense_G387R,Missense_G387R,Missense_G387R exm769472 9 108397456 [A/G] NM_006731,NM_001198963,NM_001079802 FKTN,FKTN,FKTN EXON Missense_T433A,Silent,Missense_T433A exm769475 9 108397495 [A/G] NM_006731,NM_001198963,NM_001079802 FKTN,FKTN,FKTN EXON Missense_N446D,Silent,Missense_N446D exm2180024 9 108424812 [A/G] NM_005421 TAL2 EXON Missense_R12Q exm769483 9 108424845 [T/C] NM_005421 TAL2 EXON Missense_A23V exm769487 9 108424977 [G/C] NM_005421 TAL2 EXON Missense_G67A exm769490 9 108425069 [A/G] NM_005421 TAL2 EXON Missense_V98I exm769491 9 108425081 [C/G] NM_005421 TAL2 EXON Missense_G102R exm-rs1463984 9 108427062 [T/C] exm769495 9 108456984 [A/C] NM_018112 TMEM38B EXON Missense_T15P exm2259076 9 108457806 [A/G] NM_018112 TMEM38B Silent exm769503 9 108467928 [A/G] NM_018112 TMEM38B EXON Missense_M55V exm2259077 9 108483848 [A/G] NM_018112 TMEM38B EXON Synonymous_L100L exm769509 9 108483889 [T/C] NM_018112 TMEM38B EXON Missense_A114V exm769513 9 108484000 [A/G] NM_018112 TMEM38B EXON Missense_R151Q exm769522 9 108536147 [T/C] NM_018112 TMEM38B EXON Missense_I221T exm769524 9 108536233 [T/C] NM_018112 TMEM38B EXON Missense_P250S exm769526 9 108536246 [C/G] NM_018112 TMEM38B EXON Missense_C254S exm769528 9 108536284 [A/G] NM_018112 TMEM38B EXON Missense_V267I exm769529 9 108536288 [A/G] NM_018112 TMEM38B EXON Missense_G268E exm-rs4742971 9 108655096 [T/G] exm2264372 9 108656238 [A/C] exm-rs4452860 9 108925389 [A/G] exm-rs7861820 9 108936674 [T/C] exm-rs2090409 9 108967088 [A/C] exm2266861 9 109132446 [A/G] exm2266928 9 109162816 [A/G] exm2271123 9 109312922 [T/G] exm-rs7027110 9 109599046 [A/G] exm-rs4743034 9 109632353 [A/G] NM_021224 ZNF462 Silent exm2180044 9 109686435 [A/G] NM_021224,NR_031752 ZNF462,MIR548Q EXON Missense_G81E,Silent exm769548 9 109686588 [G/C] NM_021224,NR_031752 ZNF462,MIR548Q EXON Missense_G132A,Silent exm769556 9 109686770 [A/G] NM_021224,NR_031752 ZNF462,MIR548Q EXON Missense_T193A,Silent exm2180053 9 109686816 [T/C] NM_021224,NR_031752 ZNF462,MIR548Q EXON Missense_P208L,Silent exm769566 9 109687045 [T/G] NM_021224,NR_031752 ZNF462,MIR548Q EXON Missense_N284K,Silent exm2259081 9 109687060 [A/G] NM_021224,NR_031752 ZNF462,MIR548Q EXON Synonymous_P289P,Silent exm769570 9 109687121 [T/C] NM_021224,NR_031752 ZNF462,MIR548Q EXON Missense_R310W,Silent exm769574 9 109687142 [A/G] NM_021224,NR_031752 ZNF462,MIR548Q EXON Missense_V317I,Silent exm769582 9 109687257 [A/G] NM_021224,NR_031752 ZNF462,MIR548Q EXON Missense_G355D,Silent exm769583 9 109687269 [T/G] NM_021224,NR_031752 ZNF462,MIR548Q EXON Missense_L359W,Silent exm769589 9 109687337 [A/G] NM_021224,NR_031752 ZNF462,MIR548Q EXON Missense_M382V,Silent exm769591 9 109687403 [A/G] NM_021224,NR_031752 ZNF462,MIR548Q EXON Missense_M404V,Silent exm769600 9 109687680 [T/C] NM_021224,NR_031752 ZNF462,MIR548Q EXON Missense_T496M,Silent exm2180061 9 109687821 [T/C] NM_021224,NR_031752 ZNF462,MIR548Q EXON Missense_P543L,Silent exm769609 9 109687841 [T/C] NM_021224,NR_031752 ZNF462,MIR548Q EXON Missense_P550S,Silent exm769619 9 109687976 [A/G] NM_021224,NR_031752 ZNF462,MIR548Q EXON Missense_A595T,Silent exm2180064 9 109688226 [A/G] NM_021224,NR_031752 ZNF462,MIR548Q EXON Missense_K678R,Silent exm769630 9 109688439 [T/C] NM_021224,NR_031752 ZNF462,MIR548Q EXON Missense_I749T,Silent exm769645 9 109688832 [A/G] NM_021224,NR_031752 ZNF462,MIR548Q EXON Missense_N880S,Silent exm769649 9 109688912 [A/G] NM_021224,NR_031752 ZNF462,MIR548Q EXON Missense_E907K,Silent exm769656 9 109689160 [A/G] NM_021224,NR_031752 ZNF462,MIR548Q EXON Synonymous_A989A,Silent exm2259082 9 109689160 [A/G] NM_021224,NR_031752 ZNF462,MIR548Q EXON Synonymous_A989A,Silent exm2180071 9 109689179 [T/C] NM_021224,NR_031752 ZNF462,MIR548Q EXON Missense_R996C,Silent exm769660 9 109689269 [A/G] NM_021224,NR_031752 ZNF462,MIR548Q EXON Missense_T1026A,Silent exm769675 9 109689696 [A/G] NM_021224,NR_031752 ZNF462,MIR548Q EXON Missense_R1168Q,Silent exm769678 9 109689752 [T/C] NM_021224,NR_031752 ZNF462,MIR548Q EXON Missense_P1187S,Silent exm769694 9 109689972 [T/C] NM_021224,NR_031752 ZNF462,MIR548Q EXON Missense_T1260M,Silent exm769712 9 109690286 [A/G] NM_021224,NR_031752 ZNF462,MIR548Q EXON Missense_E1365K,Silent exm769719 9 109690382 [A/C] NM_021224,NR_031752 ZNF462,MIR548Q EXON Missense_N1397H,Silent exm2180083 9 109690398 [T/C] NM_021224,NR_031752 ZNF462,MIR548Q EXON Missense_V1402A,Silent exm769723 9 109690506 [T/C] NM_021224,NR_031752 ZNF462,MIR548Q EXON Missense_P1438L,Silent exm769730 9 109690727 [C/G] NM_021224,NR_031752 ZNF462,MIR548Q EXON Missense_G1512R,Silent exm2247350 9 109691399 [A/G] NM_021224,NR_031752 ZNF462,MIR548Q EXON Missense_I1736V,Silent exm769756 9 109691447 [A/G] NM_021224,NR_031752 ZNF462,MIR548Q EXON Missense_D1752N,Silent exm769763 9 109691575 [C/G] NM_021224,NR_031752 ZNF462,MIR548Q EXON Missense_F1794L,Silent exm769769 9 109691636 [A/C] NM_021224,NR_031752 ZNF462,MIR548Q EXON Missense_H1815N,Silent exm769773 9 109691676 [A/G] NM_021224,NR_031752 ZNF462,MIR548Q EXON Missense_N1828S,Silent exm769775 9 109691690 [A/G] NM_021224,NR_031752 ZNF462,MIR548Q EXON Missense_E1833K,Silent exm769786 9 109692942 [A/G] NM_021224,NR_031752 ZNF462,MIR548Q EXON Missense_N1995S,Silent exm769798 9 109701209 [A/G] NM_021224,NR_031752 ZNF462,MIR548Q EXON Missense_Y2083C,Silent exm769829 9 109771874 [A/G] NM_021224,NR_031752 ZNF462,MIR548Q EXON Missense_R2413H,Silent exm769833 9 109773145 [A/T] NM_021224,NR_031752 ZNF462,MIR548Q EXON Missense_H2452L,Silent exm769835 9 109773180 [T/C] NM_021224,NR_031752 ZNF462,MIR548Q EXON Missense_P2464S,Silent exm2259083 9 109950798 [T/C] exm769846 9 110068787 [A/C] NM_002874,NM_001244724,NM_001244713 RAD23B,RAD23B,RAD23B EXON Missense_P119H,Missense_P47H,Missense_P98H exm769847 9 110068802 [T/C] NM_002874,NM_001244724,NM_001244713 RAD23B,RAD23B,RAD23B EXON Missense_A124V,Missense_A52V,Missense_A103V exm2180133 9 110068823 [T/C] NM_002874,NM_001244724,NM_001244713 RAD23B,RAD23B,RAD23B EXON Missense_A131V,Missense_A59V,Missense_A110V exm2276060 9 110084363 [A/G] NM_002874,NM_001244724,NM_001244713 RAD23B,RAD23B,RAD23B EXON Missense_T261A,Missense_T189A,Missense_T240A exm-rs817858 9 110125811 [G/C] exm2271125 9 110241529 [T/C] exm769933 9 110249816 [A/G] NM_004235 KLF4 EXON Missense_H287Y exm769934 9 110249891 [T/C] NM_004235 KLF4 EXON Missense_V262M exm769937 9 110249954 [A/C] NM_004235 KLF4 EXON Nonsense_E241X exm769952 9 110250334 [T/G] NM_004235 KLF4 EXON Missense_T114N exm2277374 9 110250416 [T/G] NM_004235 KLF4 EXON Missense_N87H exm2180166 9 110250416 [T/C] NM_004235 KLF4 EXON Missense_N87D exm769967 9 110251215 [T/C] NM_004235 KLF4 EXON Missense_N41S exm2266929 9 110346728 [A/G] exm-rs7047831 9 110688551 [A/G] exm2271126 9 110820132 [T/G] exm-rs7042864 9 110872307 [T/C] exm-rs865686 9 110888478 [T/G] exm2266930 9 110950572 [A/G] exm2259086 9 111505738 [T/C] exm770034 9 111617174 [C/G] NM_006686 ACTL7B EXON Missense_T346S exm770038 9 111617294 [G/C] NM_006686 ACTL7B EXON Missense_S306C exm770046 9 111617414 [A/G] NM_006686 ACTL7B EXON Missense_P266L exm770066 9 111617738 [T/C] NM_006686 ACTL7B EXON Missense_S158N exm770073 9 111617824 [G/C] NM_006686 ACTL7B EXON Missense_I129M exm770074 9 111617827 [T/G] NM_006686 ACTL7B EXON Missense_D128E exm770086 9 111618138 [A/C] NM_006686 ACTL7B EXON Missense_G25C exm770095 9 111624712 [T/C] NM_006687 ACTL7A EXON Missense_P37L exm770102 9 111624861 [A/G] NM_006687 ACTL7A EXON Missense_G87S exm770108 9 111624938 [T/G] NM_006687 ACTL7A EXON Missense_N112K exm770113 9 111625009 [A/G] NM_006687 ACTL7A EXON Missense_R136Q exm770114 9 111625023 [A/G] NM_006687 ACTL7A EXON Missense_V141M exm770123 9 111625083 [C/G] NM_006687 ACTL7A EXON Missense_A161P exm770129 9 111625149 [T/C] NM_006687 ACTL7A EXON Missense_Y183H exm770132 9 111625242 [A/G] NM_006687 ACTL7A EXON Missense_G214S exm770138 9 111625374 [T/A] NM_006687 ACTL7A EXON Missense_N258Y exm770139 9 111625381 [T/C] NM_006687 ACTL7A EXON Missense_A260V exm770141 9 111625410 [T/G] NM_006687 ACTL7A EXON Missense_G270C exm770154 9 111625629 [G/C] NM_006687 ACTL7A EXON Missense_L343V exm2259087 9 111625742 [T/C] NM_006687 ACTL7A EXON Synonymous_S380S exm770159 9 111625749 [T/C] NM_006687 ACTL7A EXON Missense_P383S exm770160 9 111625762 [T/C] NM_006687 ACTL7A EXON Missense_P387L exm770162 9 111625773 [G/C] NM_006687 ACTL7A EXON Missense_V391L exm770165 9 111625809 [A/G] NM_006687 ACTL7A EXON Missense_G403S exm770171 9 111637174 [A/C] NM_003640 IKBKAP Silent exm770175 9 111637237 [T/C] NM_003640 IKBKAP EXON Missense_N1290S exm2180216 9 111640276 [A/G] NM_003640 IKBKAP EXON Missense_P1285L exm770191 9 111641825 [A/G] NM_003640 IKBKAP EXON Missense_P1158L exm770194 9 111642375 [G/C] NM_003640 IKBKAP EXON Missense_L1139F exm770204 9 111644410 [T/C] NM_003640 IKBKAP EXON Missense_R1094G exm770208 9 111651620 [T/A] NM_003640 IKBKAP EXON Missense_C1072S exm770209 9 111651621 [G/C] NM_003640 IKBKAP EXON Missense_E1071D exm770217 9 111653606 [T/C] NM_003640 IKBKAP EXON Missense_G1013S exm770220 9 111656228 [A/T] NM_003640 IKBKAP EXON Missense_K952I exm2180248 9 111656238 [A/G] NM_003640 IKBKAP EXON Missense_H949Y exm770221 9 111656258 [T/C] NM_003640 IKBKAP EXON Missense_R942Q exm770237 9 111659277 [T/G] NM_003640 IKBKAP EXON Missense_T848N exm770239 9 111659439 [T/C] NM_003640 IKBKAP EXON Missense_I830M exm770240 9 111659483 [T/G] NM_003640 IKBKAP EXON Missense_I816L exm770243 9 111659551 [A/G] NM_003640 IKBKAP EXON Missense_T793M exm770246 9 111660851 [T/C] NM_003640 IKBKAP EXON Missense_G765E exm770256 9 111662583 [T/C] NM_003640 IKBKAP EXON Missense_R696Q exm770258 9 111662604 [T/C] NM_003640 IKBKAP EXON Missense_R689Q exm770267 9 111663744 [T/G] NM_003640 IKBKAP EXON Missense_T659P exm770275 9 111663806 [A/G] NM_003640 IKBKAP EXON Missense_A638V exm770278 9 111663930 [T/C] NM_003640 IKBKAP EXON Missense_R629H exm2180277 9 111665136 [T/C] NM_003640 IKBKAP EXON Missense_A613T exm770287 9 111665872 [A/G] NM_003640 IKBKAP EXON Missense_A574V exm770294 9 111668652 [T/C] NM_003640 IKBKAP EXON Missense_R525Q exm770301 9 111673341 [T/G] NM_003640 IKBKAP EXON Missense_N437H exm770307 9 111673437 [A/G] NM_003640 IKBKAP EXON Missense_R405W exm770311 9 111674604 [T/C] NM_003640 IKBKAP EXON Missense_T377A exm770315 9 111674660 [T/C] NM_003640 IKBKAP EXON Missense_R358Q exm770318 9 111674716 [T/G] NM_003640 IKBKAP EXON Missense_S339R exm770325 9 111678508 [T/C] NM_003640 IKBKAP EXON Missense_E312K exm770326 9 111678519 [A/G] NM_003640 IKBKAP EXON Missense_L308P exm770335 9 111679940 [T/C] NM_003640 IKBKAP EXON Missense_S251G exm-rs16913693 9 111680359 [T/G] NM_003640 IKBKAP Silent exm2180309 9 111681565 [A/C] NM_003640 IKBKAP EXON Missense_F206C exm770341 9 111685129 [T/A] NM_003640 IKBKAP EXON Missense_M182K exm770351 9 111692066 [T/C] NM_003640 IKBKAP EXON Missense_S96G exm770352 9 111692143 [T/C] NM_003640 IKBKAP EXON Missense_R70H exm770353 9 111692144 [A/G] NM_003640 IKBKAP EXON Missense_R70C exm770354 9 111692149 [A/C] NM_003640 IKBKAP EXON Missense_S68I exm770357 9 111692198 [T/C] NM_003640 IKBKAP EXON Missense_K52E exm770367 9 111696795 [T/C] NM_017832 FAM206A EXON Missense_P10L exm770375 9 111697957 [A/G] NM_017832 FAM206A EXON Missense_Q40R exm770377 9 111697968 [T/C] NM_017832 FAM206A EXON Nonsense_R44X exm770379 9 111698617 [A/G] NM_017832 FAM206A EXON Missense_H54R exm770381 9 111698715 [T/C] NM_017832 FAM206A EXON Missense_R87W exm770387 9 111701543 [A/C] NM_017832 FAM206A EXON Missense_T110N exm770398 9 111701959 [T/C] NM_017832 FAM206A EXON Missense_T180M exm770400 9 111705049 [T/G] NM_003798 CTNNAL1 EXON Missense_X735C exm770403 9 111705107 [A/C] NM_003798 CTNNAL1 EXON Missense_M716R exm770408 9 111705321 [T/C] NM_003798 CTNNAL1 EXON Missense_D687N exm770419 9 111714532 [A/G] NM_003798 CTNNAL1 EXON Missense_R598W exm770422 9 111714601 [A/G] NM_003798 CTNNAL1 EXON Missense_L575F exm770425 9 111714739 [T/G] NM_003798 CTNNAL1 EXON Missense_D555E exm770431 9 111718091 [T/G] NM_003798 CTNNAL1 EXON Nonsense_Y536X exm770433 9 111727670 [G/C] NM_003798 CTNNAL1 EXON Missense_E527Q exm770434 9 111727676 [T/C] NM_003798 CTNNAL1 EXON Missense_V525M exm770445 9 111734995 [T/C] NM_003798 CTNNAL1 EXON Missense_Y436C exm770447 9 111735031 [G/C] NM_003798 CTNNAL1 EXON Missense_T424S exm770454 9 111739277 [T/G] NM_003798 CTNNAL1 EXON Missense_K385Q exm770456 9 111739304 [T/C] NM_003798 CTNNAL1 EXON Missense_A376T exm770465 9 111741679 [T/C] NM_003798 CTNNAL1 EXON Missense_R328H exm770466 9 111741689 [T/C] NM_003798 CTNNAL1 EXON Missense_I325V exm770475 9 111745534 [T/C] NM_003798 CTNNAL1 EXON Missense_R264H exm770481 9 111753038 [T/C] NM_003798 CTNNAL1 EXON Missense_E203K exm770483 9 111753089 [T/C] NM_003798 CTNNAL1 EXON Missense_S186G exm770486 9 111753119 [T/C] NM_003798 CTNNAL1 EXON Missense_A176T exm2180387 9 111754950 [A/G] NM_003798 CTNNAL1 EXON Nonsense_R161X exm770502 9 111755088 [T/C] NM_003798 CTNNAL1 EXON Missense_A115T exm770503 9 111761406 [T/G] NM_003798 CTNNAL1 EXON Missense_N91T exm770506 9 111761469 [T/C] NM_003798 CTNNAL1 EXON Missense_R70H exm2276061 9 111795699 [T/C] NM_032012 TMEM245 EXON Missense_I828V exm770562 9 111819564 [A/C] NM_032012 TMEM245 EXON Missense_L587F exm770602 9 111853375 [T/G] NM_032012 TMEM245 EXON Missense_P326H exm770604 9 111853412 [T/C] NM_032012 TMEM245 EXON Missense_A314T exm770613 9 111870787 [A/G] NM_032012 TMEM245 EXON Missense_R215C exm770614 9 111870811 [A/G] NM_032012 TMEM245 EXON Missense_F207L exm770630 9 111881973 [T/C] NM_032012 TMEM245 EXON Missense_Y74C exm770647 9 111903799 [A/G] NM_014334 FRRS1L EXON Missense_V229A exm770655 9 111909398 [A/G] NM_014334 FRRS1L EXON Missense_V183A exm770660 9 111911944 [T/C] NM_014334 FRRS1L EXON Missense_D150N exm-rs6477694 9 111932342 [T/C] exm770677 9 111938834 [A/G] NM_019114 EPB41L4B EXON Missense_A877V exm770684 9 111938912 [A/G] NM_019114 EPB41L4B EXON Missense_A851V exm770685 9 111938924 [A/G] NM_019114 EPB41L4B EXON Missense_L847P exm770691 9 111945049 [T/G] NM_019114 EPB41L4B EXON Missense_N816T exm2271128 9 111945992 [T/C] NM_019114 EPB41L4B Silent exm770699 9 111954598 [A/G] NM_019114 EPB41L4B EXON Missense_P754L exm770700 9 111954616 [T/C] NM_019114 EPB41L4B EXON Missense_G748D exm770701 9 111954619 [T/C] NM_019114 EPB41L4B EXON Missense_G747E exm770702 9 111954622 [T/C] NM_019114 EPB41L4B EXON Missense_R746Q exm2180484 9 111962554 [A/C] NM_019114 EPB41L4B EXON Missense_K669N exm770721 9 111970268 [A/G] NM_019114 EPB41L4B EXON Missense_A605V exm770724 9 111970326 [T/C] NM_019114 EPB41L4B EXON Missense_E586K exm770726 9 111976056 [T/G] NM_019114 EPB41L4B EXON Missense_A559D exm770728 9 111979216 [T/C] NM_019114 EPB41L4B EXON Missense_S540N exm770744 9 112004040 [T/C] NM_019114,NM_018424 EPB41L4B,EPB41L4B EXON Silent,Missense_D487N exm770762 9 112017829 [T/G] NM_019114,NM_018424 EPB41L4B,EPB41L4B EXON Missense_R377S,Missense_R377S exm770767 9 112017929 [T/C] NM_019114,NM_018424 EPB41L4B,EPB41L4B EXON Missense_R344Q,Missense_R344Q exm770774 9 112018731 [G/C] NM_019114,NM_018424 EPB41L4B,EPB41L4B EXON Missense_S261C,Missense_S261C exm2262574 9 112078548 [A/G] NM_019114,NM_018424 EPB41L4B,EPB41L4B Silent,Silent exm2273458 9 112141832 [T/C] NM_001145372,NM_001145369,NM_001145368,NR_026918,NM_001145370,NM_002829,NM_001145371 PTPN3,PTPN3,PTPN3,PTPN3,PTPN3,PTPN3,PTPN3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent exm770809 9 112141897 [A/G] NM_001145372,NM_001145369,NM_001145368,NR_026918,NM_001145370,NM_002829,NM_001145371 PTPN3,PTPN3,PTPN3,PTPN3,PTPN3,PTPN3,PTPN3 EXON Missense_V562A,Missense_V763A,Missense_V849A,Silent,Missense_V718A,Missense_V894A,Missense_V607A exm770823 9 112144604 [T/C] NM_001145372,NM_001145369,NM_001145368,NR_026918,NM_001145370,NM_002829,NM_001145371 PTPN3,PTPN3,PTPN3,PTPN3,PTPN3,PTPN3,PTPN3 EXON Missense_E504K,Missense_E705K,Missense_E791K,Silent,Missense_E660K,Missense_E836K,Missense_E549K exm770838 9 112145798 [T/C] NM_001145372,NM_001145369,NM_001145368,NR_026918,NM_001145370,NM_002829,NM_001145371 PTPN3,PTPN3,PTPN3,PTPN3,PTPN3,PTPN3,PTPN3 EXON Missense_D431N,Missense_D632N,Missense_D718N,Silent,Missense_D587N,Missense_D763N,Missense_D476N exm770851 9 112151598 [T/C] NM_001145372,NM_001145369,NM_001145368,NR_026918,NM_001145370,NM_002829,NM_001145371 PTPN3,PTPN3,PTPN3,PTPN3,PTPN3,PTPN3,PTPN3 EXON Missense_H391R,Missense_H592R,Missense_H678R,Silent,Missense_H547R,Missense_H723R,Missense_H436R exm770856 9 112153419 [T/C] NM_001145372,NM_001145369,NM_001145368,NR_026918,NM_001145370,NM_002829,NM_001145371 PTPN3,PTPN3,PTPN3,PTPN3,PTPN3,PTPN3,PTPN3 EXON Missense_N370S,Missense_N571S,Missense_N657S,Silent,Missense_N526S,Missense_N702S,Missense_N415S exm770866 9 112166821 [G/C] NM_001145372,NM_001145369,NM_001145368,NR_026918,NM_001145370,NM_002829,NM_001145371 PTPN3,PTPN3,PTPN3,PTPN3,PTPN3,PTPN3,PTPN3 EXON Missense_F288L,Missense_F489L,Missense_F575L,Silent,Missense_F444L,Missense_F620L,Missense_F333L exm2180549 9 112166866 [C/G] NM_001145372,NM_001145369,NM_001145368,NR_026918,NM_001145370,NM_002829,NM_001145371 PTPN3,PTPN3,PTPN3,PTPN3,PTPN3,PTPN3,PTPN3 EXON Missense_F273L,Missense_F474L,Missense_F560L,Silent,Missense_F429L,Missense_F605L,Missense_F318L exm770875 9 112168829 [C/G] NM_001145372,NM_001145369,NM_001145368,NR_026918,NM_001145370,NM_002829,NM_001145371 PTPN3,PTPN3,PTPN3,PTPN3,PTPN3,PTPN3,PTPN3 EXON Missense_E237Q,Missense_E438Q,Missense_E524Q,Silent,Missense_E393Q,Missense_E569Q,Missense_E282Q exm770877 9 112168840 [T/C] NM_001145372,NM_001145369,NM_001145368,NR_026918,NM_001145370,NM_002829,NM_001145371 PTPN3,PTPN3,PTPN3,PTPN3,PTPN3,PTPN3,PTPN3 EXON Missense_R233Q,Missense_R434Q,Missense_R520Q,Silent,Missense_R389Q,Missense_R565Q,Missense_R278Q exm770891 9 112172563 [T/G] NM_001145372,NM_001145369,NM_001145368,NR_026918,NM_001145370,NM_002829,NM_001145371 PTPN3,PTPN3,PTPN3,PTPN3,PTPN3,PTPN3,PTPN3 EXON Missense_H150Q,Missense_H351Q,Missense_H437Q,Silent,Missense_H306Q,Missense_H482Q,Missense_H195Q exm770894 9 112172592 [T/C] NM_001145372,NM_001145369,NM_001145368,NR_026918,NM_001145370,NM_002829,NM_001145371 PTPN3,PTPN3,PTPN3,PTPN3,PTPN3,PTPN3,PTPN3 EXON Missense_V141I,Missense_V342I,Missense_V428I,Silent,Missense_V297I,Missense_V473I,Missense_V186I exm770923 9 112189275 [T/C] NM_001145372,NM_001145369,NM_001145368,NM_001145370,NM_002829,NM_001145371 PTPN3,PTPN3,PTPN3,PTPN3,PTPN3,PTPN3 EXON Missense_N32S,Missense_N188S,Missense_N319S,Missense_N188S,Missense_N319S,Missense_N32S exm770945 9 112207526 [T/C] NM_001145369,NM_001145368,NM_001145370,NM_002829 PTPN3,PTPN3,PTPN3,PTPN3 EXON Missense_V23I,Missense_V154I,Missense_V23I,Missense_V154I exm770958 9 112219459 [A/T] NM_001145368,NM_002829 PTPN3,PTPN3 EXON Missense_L95I,Missense_L95I exm770959 9 112219474 [G/C] NM_001145368,NM_002829 PTPN3,PTPN3 EXON Missense_A90P,Missense_A90P exm770960 9 112219494 [T/C] NM_001145368,NM_002829 PTPN3,PTPN3 EXON Missense_R83K,Missense_R83K exm770963 9 112219589 [T/C] NM_001145368,NM_002829 PTPN3,PTPN3 EXON Missense_D77N,Missense_D77N exm770975 9 112225669 [A/G] NM_001145368,NM_002829 PTPN3,PTPN3 EXON Missense_R16C,Missense_R16C exm770990 9 112629822 [A/G] NM_001037293,NM_007203,NM_147150,NM_053016 PALM2,PALM2-AKAP2,PALM2-AKAP2,PALM2 EXON Missense_E35K,Missense_E33K,Missense_E33K,Missense_E33K exm771000 9 112686035 [T/C] NM_001037293,NM_007203,NM_147150,NM_053016 PALM2,PALM2-AKAP2,PALM2-AKAP2,PALM2 EXON Missense_T95M,Missense_T93M,Missense_T93M,Missense_T93M exm771009 9 112687354 [T/C] NM_001037293,NM_007203,NM_147150,NM_053016 PALM2,PALM2-AKAP2,PALM2-AKAP2,PALM2 EXON Missense_T131M,Missense_T129M,Missense_T129M,Missense_T129M exm771021 9 112705007 [A/T] NM_001037293,NM_007203,NM_147150,NM_053016 PALM2,PALM2-AKAP2,PALM2-AKAP2,PALM2 EXON Missense_T148S,Silent,Silent,Missense_T180S exm771023 9 112705060 [A/T] NM_001037293,NM_007203,NM_147150,NM_053016 PALM2,PALM2-AKAP2,PALM2-AKAP2,PALM2 EXON Missense_H165Q,Silent,Silent,Missense_H197Q exm771024 9 112705088 [T/G] NM_001037293,NM_007203,NM_147150,NM_053016 PALM2,PALM2-AKAP2,PALM2-AKAP2,PALM2 EXON Missense_G175C,Silent,Silent,Missense_G207C exm771025 9 112705112 [T/C] NM_001037293,NM_007203,NM_147150,NM_053016 PALM2,PALM2-AKAP2,PALM2-AKAP2,PALM2 EXON Missense_R183C,Silent,Silent,Missense_R215C exm771027 9 112705167 [T/G] NM_001037293,NM_007203,NM_147150,NM_053016 PALM2,PALM2-AKAP2,PALM2-AKAP2,PALM2 EXON Missense_V201G,Silent,Silent,Missense_V233G exm771031 9 112705217 [A/G] NM_001037293,NM_007203,NM_147150,NM_053016 PALM2,PALM2-AKAP2,PALM2-AKAP2,PALM2 EXON Missense_V218M,Silent,Silent,Missense_V250M exm771046 9 112705383 [A/G] NM_001037293,NM_007203,NM_147150,NM_053016 PALM2,PALM2-AKAP2,PALM2-AKAP2,PALM2 EXON Missense_N273S,Silent,Silent,Missense_N305S exm771055 9 112705680 [A/G] NM_001037293,NM_007203,NM_147150,NM_053016 PALM2,PALM2-AKAP2,PALM2-AKAP2,PALM2 EXON Missense_R372H,Silent,Silent,Missense_R404H exm771080 9 112898528 [A/G] NM_007203,NM_147150,NM_001004065,NM_001198656,NM_001136562 PALM2-AKAP2,PALM2-AKAP2,AKAP2,AKAP2,AKAP2 EXON Missense_E235G,Missense_E235G,Missense_E93G,Missense_E93G,Missense_E4G exm771083 9 112898576 [T/C] NM_007203,NM_147150,NM_001004065,NM_001198656,NM_001136562 PALM2-AKAP2,PALM2-AKAP2,AKAP2,AKAP2,AKAP2 EXON Missense_P251L,Missense_P251L,Missense_P109L,Missense_P109L,Missense_P20L exm771084 9 112898599 [A/G] NM_007203,NM_147150,NM_001004065,NM_001198656,NM_001136562 PALM2-AKAP2,PALM2-AKAP2,AKAP2,AKAP2,AKAP2 EXON Missense_A259T,Missense_A259T,Missense_A117T,Missense_A117T,Missense_A28T exm771085 9 112898635 [G/C] NM_007203,NM_147150,NM_001004065,NM_001198656,NM_001136562 PALM2-AKAP2,PALM2-AKAP2,AKAP2,AKAP2,AKAP2 EXON Missense_D271H,Missense_D271H,Missense_D129H,Missense_D129H,Missense_D40H exm771089 9 112898708 [A/G] NM_007203,NM_147150,NM_001004065,NM_001198656,NM_001136562 PALM2-AKAP2,PALM2-AKAP2,AKAP2,AKAP2,AKAP2 EXON Missense_C295Y,Missense_C295Y,Missense_C153Y,Missense_C153Y,Missense_C64Y exm771091 9 112898722 [A/G] NM_007203,NM_147150,NM_001004065,NM_001198656,NM_001136562 PALM2-AKAP2,PALM2-AKAP2,AKAP2,AKAP2,AKAP2 EXON Missense_V300M,Missense_V300M,Missense_V158M,Missense_V158M,Missense_V69M exm771100 9 112898842 [T/C] NM_007203,NM_147150,NM_001004065,NM_001198656,NM_001136562 PALM2-AKAP2,PALM2-AKAP2,AKAP2,AKAP2,AKAP2 EXON Missense_R340W,Missense_R340W,Missense_R198W,Missense_R198W,Missense_R109W exm771101 9 112898843 [A/G] NM_007203,NM_147150,NM_001004065,NM_001198656,NM_001136562 PALM2-AKAP2,PALM2-AKAP2,AKAP2,AKAP2,AKAP2 EXON Missense_R340Q,Missense_R340Q,Missense_R198Q,Missense_R198Q,Missense_R109Q exm771114 9 112898996 [A/G] NM_007203,NM_147150,NM_001004065,NM_001198656,NM_001136562 PALM2-AKAP2,PALM2-AKAP2,AKAP2,AKAP2,AKAP2 EXON Missense_R391Q,Missense_R391Q,Missense_R249Q,Missense_R249Q,Missense_R160Q exm771117 9 112899043 [A/G] NM_007203,NM_147150,NM_001004065,NM_001198656,NM_001136562 PALM2-AKAP2,PALM2-AKAP2,AKAP2,AKAP2,AKAP2 EXON Missense_E407K,Missense_E407K,Missense_E265K,Missense_E265K,Missense_E176K exm771128 9 112899361 [A/C] NM_007203,NM_147150,NM_001004065,NM_001198656,NM_001136562 PALM2-AKAP2,PALM2-AKAP2,AKAP2,AKAP2,AKAP2 EXON Missense_K513Q,Missense_K513Q,Missense_K371Q,Missense_K371Q,Missense_K282Q exm771132 9 112899430 [T/C] NM_007203,NM_147150,NM_001004065,NM_001198656,NM_001136562 PALM2-AKAP2,PALM2-AKAP2,AKAP2,AKAP2,AKAP2 EXON Missense_R536C,Missense_R536C,Missense_R394C,Missense_R394C,Missense_R305C exm771137 9 112899533 [T/C] NM_007203,NM_147150,NM_001004065,NM_001198656,NM_001136562 PALM2-AKAP2,PALM2-AKAP2,AKAP2,AKAP2,AKAP2 EXON Missense_A570V,Missense_A570V,Missense_A428V,Missense_A428V,Missense_A339V exm771139 9 112899612 [A/C] NM_007203,NM_147150,NM_001004065,NM_001198656,NM_001136562 PALM2-AKAP2,PALM2-AKAP2,AKAP2,AKAP2,AKAP2 EXON Missense_D596E,Missense_D596E,Missense_D454E,Missense_D454E,Missense_D365E exm771140 9 112899626 [A/T] NM_007203,NM_147150,NM_001004065,NM_001198656,NM_001136562 PALM2-AKAP2,PALM2-AKAP2,AKAP2,AKAP2,AKAP2 EXON Missense_N601I,Missense_N601I,Missense_N459I,Missense_N459I,Missense_N370I exm771141 9 112899629 [T/C] NM_007203,NM_147150,NM_001004065,NM_001198656,NM_001136562 PALM2-AKAP2,PALM2-AKAP2,AKAP2,AKAP2,AKAP2 EXON Missense_P602L,Missense_P602L,Missense_P460L,Missense_P460L,Missense_P371L exm771145 9 112899658 [G/C] NM_007203,NM_147150,NM_001004065,NM_001198656,NM_001136562 PALM2-AKAP2,PALM2-AKAP2,AKAP2,AKAP2,AKAP2 EXON Missense_E612Q,Missense_E612Q,Missense_E470Q,Missense_E470Q,Missense_E381Q exm771148 9 112899715 [A/C] NM_007203,NM_147150,NM_001004065,NM_001198656,NM_001136562 PALM2-AKAP2,PALM2-AKAP2,AKAP2,AKAP2,AKAP2 EXON Missense_P631T,Missense_P631T,Missense_P489T,Missense_P489T,Missense_P400T exm771154 9 112899787 [T/C] NM_007203,NM_147150,NM_001004065,NM_001198656,NM_001136562 PALM2-AKAP2,PALM2-AKAP2,AKAP2,AKAP2,AKAP2 EXON Missense_R655C,Missense_R655C,Missense_R513C,Missense_R513C,Missense_R424C exm771156 9 112899819 [T/G] NM_007203,NM_147150,NM_001004065,NM_001198656,NM_001136562 PALM2-AKAP2,PALM2-AKAP2,AKAP2,AKAP2,AKAP2 EXON Missense_D665E,Missense_D665E,Missense_D523E,Missense_D523E,Missense_D434E exm771159 9 112899835 [A/G] NM_007203,NM_147150,NM_001004065,NM_001198656,NM_001136562 PALM2-AKAP2,PALM2-AKAP2,AKAP2,AKAP2,AKAP2 EXON Missense_A671T,Missense_A671T,Missense_A529T,Missense_A529T,Missense_A440T exm771174 9 112900135 [A/G] NM_007203,NM_147150,NM_001004065,NM_001198656,NM_001136562 PALM2-AKAP2,PALM2-AKAP2,AKAP2,AKAP2,AKAP2 EXON Missense_V771I,Missense_V771I,Missense_V629I,Missense_V629I,Missense_V540I exm771185 9 112900331 [T/C] NM_007203,NM_147150,NM_001004065,NM_001198656,NM_001136562 PALM2-AKAP2,PALM2-AKAP2,AKAP2,AKAP2,AKAP2 EXON Missense_A836V,Missense_A836V,Missense_A694V,Missense_A694V,Missense_A605V exm771193 9 112900372 [A/G] NM_007203,NM_147150,NM_001004065,NM_001198656,NM_001136562 PALM2-AKAP2,PALM2-AKAP2,AKAP2,AKAP2,AKAP2 EXON Missense_K850E,Missense_K850E,Missense_K708E,Missense_K708E,Missense_K619E exm771194 9 112900393 [T/C] NM_007203,NM_147150,NM_001004065,NM_001198656,NM_001136562 PALM2-AKAP2,PALM2-AKAP2,AKAP2,AKAP2,AKAP2 EXON Missense_P857S,Missense_P857S,Missense_P715S,Missense_P715S,Missense_P626S exm771195 9 112900402 [T/G] NM_007203,NM_147150,NM_001004065,NM_001198656,NM_001136562 PALM2-AKAP2,PALM2-AKAP2,AKAP2,AKAP2,AKAP2 EXON Missense_V860L,Missense_V860L,Missense_V718L,Missense_V718L,Missense_V629L exm771196 9 112900466 [T/C] NM_007203,NM_147150,NM_001004065,NM_001198656,NM_001136562 PALM2-AKAP2,PALM2-AKAP2,AKAP2,AKAP2,AKAP2 EXON Missense_A881V,Missense_A881V,Missense_A739V,Missense_A739V,Missense_A650V exm771202 9 112900571 [T/C] NM_007203,NM_147150,NM_001004065,NM_001198656,NM_001136562 PALM2-AKAP2,PALM2-AKAP2,AKAP2,AKAP2,AKAP2 EXON Missense_S916L,Missense_S916L,Missense_S774L,Missense_S774L,Missense_S685L exm2259091 9 112900608 [A/G] NM_007203,NM_147150,NM_001004065,NM_001198656,NM_001136562 PALM2-AKAP2,PALM2-AKAP2,AKAP2,AKAP2,AKAP2 EXON Synonymous_L928L,Synonymous_L928L,Synonymous_L786L,Synonymous_L786L,Synonymous_L697L exm771226 9 112918755 [A/G] NM_007203,NM_147150,NM_001004065,NM_001198656,NM_001136562 PALM2-AKAP2,PALM2-AKAP2,AKAP2,AKAP2,AKAP2 EXON Missense_R1051H,Missense_R1051H,Missense_R909H,Missense_R909H,Missense_R820H exm-rs7032940 9 112945405 [A/G] exm771249 9 112963437 [T/C] NM_001012993 C9orf152 EXON Missense_G171R exm771254 9 112963497 [A/G] NM_001012993 C9orf152 EXON Missense_L151F exm771268 9 112963739 [A/G] NM_001012993 C9orf152 EXON Missense_A70V exm2259092 9 112966504 [A/G] NM_001012993 C9orf152 Silent exm771270 9 112969698 [C/G] NM_001012993 C9orf152 EXON Missense_R54S exm771271 9 112969733 [A/G] NM_001012993 C9orf152 EXON Nonsense_R43X exm771289 9 113013717 [A/G] NM_001244938,NM_003329 TXN,TXN EXON Missense_A17V,Missense_A17V exm771298 9 113065962 [G/C] NM_001003936 TXNDC8 EXON Missense_X116Y exm771308 9 113066793 [T/A] NM_001003936 TXNDC8 EXON Missense_I92N exm771313 9 113088516 [A/G] NM_001003936 TXNDC8 EXON Missense_L65P exm771315 9 113091512 [T/C] NM_001003936 TXNDC8 EXON Synonymous_P63P exm771316 9 113091513 [A/G] NM_001003936 TXNDC8 EXON Missense_P63L exm771317 9 113091523 [T/G] NM_001003936 TXNDC8 EXON Missense_N60H exm771326 9 113096570 [T/C] NM_001003936 TXNDC8 EXON Missense_G19R exm771328 9 113096572 [A/G] NM_001003936 TXNDC8 EXON Missense_A18V exm771334 9 113100053 [T/C] NM_001003936 TXNDC8 EXON Synonymous_T8T exm771338 9 113132221 [A/G] NM_153366 SVEP1 EXON Missense_T3559M exm771341 9 113132258 [A/C] NM_153366 SVEP1 EXON Missense_V3547L exm771342 9 113132270 [T/C] NM_153366 SVEP1 EXON Missense_G3543S exm771344 9 113137653 [T/C] NM_153366 SVEP1 EXON Missense_H3532R exm771350 9 113137732 [A/G] NM_153366 SVEP1 EXON Missense_L3506F exm2180668 9 113141665 [A/G] NM_153366 SVEP1 EXON Missense_L3457S exm771364 9 113148181 [C/G] NM_153366 SVEP1 EXON Missense_E3412Q exm771371 9 113148268 [T/C] NM_153366 SVEP1 EXON Missense_K3383E exm771373 9 113148277 [T/C] NM_153366 SVEP1 EXON Missense_V3380M exm771376 9 113148325 [A/G] NM_153366 SVEP1 EXON Missense_P3364S exm771380 9 113149612 [T/C] NM_153366 SVEP1 EXON Missense_H3338R exm771389 9 113151822 [T/C] NM_153366 SVEP1 EXON Missense_G3290R exm771391 9 113151837 [T/C] NM_153366 SVEP1 EXON Missense_R3285G exm771396 9 113163202 [T/C] NM_153366 SVEP1 EXON Missense_V3252M exm771398 9 113163238 [A/C] NM_153366 SVEP1 EXON Missense_S3240A exm771402 9 113163268 [T/G] NM_153366 SVEP1 EXON Missense_P3230T exm771413 9 113166792 [T/A] NM_153366 SVEP1 EXON Missense_F3161I exm771414 9 113166832 [A/T] NM_153366 SVEP1 EXON Missense_R3147S exm771417 9 113168501 [A/G] NM_153366 SVEP1 EXON Missense_S3127P exm771420 9 113168587 [T/C] NM_153366 SVEP1 EXON Missense_G3098D exm771421 9 113168590 [T/C] NM_153366 SVEP1 EXON Missense_Q3097R exm771426 9 113168807 [T/C] NM_153366 SVEP1 EXON Missense_G3025R exm771433 9 113168981 [A/G] NM_153366 SVEP1 EXON Missense_H2967Y exm771434 9 113169013 [A/G] NM_153366 SVEP1 EXON Missense_A2956V exm771436 9 113169116 [T/C] NM_153366 SVEP1 EXON Missense_I2922V exm771440 9 113169175 [A/G] NM_153366 SVEP1 EXON Missense_T2902M exm771454 9 113169619 [A/G] NM_153366 SVEP1 EXON Missense_L2754S exm771456 9 113169631 [A/G] NM_153366 SVEP1 EXON Missense_A2750V exm771460 9 113169694 [T/C] NM_153366 SVEP1 EXON Missense_R2729H exm771462 9 113169775 [T/C] NM_153366 SVEP1 EXON Missense_D2702G exm771467 9 113169896 [T/C] NM_153366 SVEP1 EXON Missense_E2662K exm771469 9 113169968 [T/C] NM_153366 SVEP1 EXON Missense_D2638N exm771473 9 113170007 [T/C] NM_153366 SVEP1 EXON Missense_T2625A exm771474 9 113170060 [A/G] NM_153366 SVEP1 EXON Missense_T2607I exm771479 9 113170222 [A/G] NM_153366 SVEP1 EXON Missense_A2553V exm771481 9 113170289 [T/C] NM_153366 SVEP1 EXON Missense_E2531K exm771492 9 113170636 [T/C] NM_153366 SVEP1 EXON Missense_R2415K exm771508 9 113171074 [A/G] NM_153366 SVEP1 EXON Missense_P2269L exm2247380 9 113171134 [T/C] NM_153366 SVEP1 EXON Missense_R2249H exm771516 9 113173455 [T/C] NM_153366 SVEP1 EXON Missense_K2179R exm771520 9 113173530 [T/C] NM_153366 SVEP1 EXON Missense_N2154S exm771536 9 113173717 [T/C] NM_153366 SVEP1 EXON Missense_S2092G exm771544 9 113173893 [T/C] NM_153366 SVEP1 EXON Missense_E2033G exm771547 9 113173975 [T/C] NM_153366 SVEP1 EXON Missense_D2006N exm771556 9 113189988 [T/C] NM_153366 SVEP1 EXON Missense_R1953K exm771559 9 113190027 [C/G] NM_153366 SVEP1 EXON Missense_P1940R exm771570 9 113191507 [A/G] NM_153366 SVEP1 EXON Missense_P1908L exm771579 9 113192263 [T/G] NM_153366 SVEP1 EXON Missense_A1851D exm771581 9 113192279 [T/A] NM_153366 SVEP1 EXON Missense_S1846T exm771587 9 113192655 [T/G] NM_153366 SVEP1 EXON Missense_E1810A exm771588 9 113192700 [A/G] NM_153366 SVEP1 EXON Missense_P1795L exm771589 9 113194202 [G/C] NM_153366 SVEP1 EXON Missense_N1782K exm2180733 9 113194764 [A/G] NM_153366 SVEP1 EXON Synonymous_N1737N exm771602 9 113196733 [A/C] NM_153366 SVEP1 EXON Missense_L1648V exm-rs7042161 9 113197263 [T/C] NM_153366 SVEP1 Silent exm771606 9 113197533 [T/C] NM_153366 SVEP1 EXON Missense_I1626V exm771618 9 113205879 [T/C] NM_153366 SVEP1 EXON Missense_D1529N exm771632 9 113208250 [T/G] NM_153366 SVEP1 EXON Missense_M1444L exm771637 9 113209195 [T/G] NM_153366 SVEP1 EXON Missense_K1416Q exm771642 9 113212387 [T/C] NM_153366 SVEP1 EXON Missense_Q1352R exm771644 9 113212454 [A/T] NM_153366 SVEP1 EXON Missense_L1330M exm771645 9 113212459 [T/C] NM_153366 SVEP1 EXON Missense_G1328E exm771651 9 113217884 [A/G] NM_153366 SVEP1 EXON Missense_P1258L exm2259093 9 113220817 [T/C] NM_153366 SVEP1 EXON Synonymous_A1170A exm771660 9 113221247 [T/C] NM_153366 SVEP1 EXON Missense_I1157V exm771670 9 113228228 [T/C] NM_153366 SVEP1 EXON Missense_K1080R exm771679 9 113231378 [T/C] NM_153366 SVEP1 EXON Missense_N1001S exm771684 9 113233724 [A/G] NM_153366 SVEP1 EXON Missense_I973T exm771691 9 113233860 [T/C] NM_153366 SVEP1 EXON Missense_D928N exm771693 9 113234456 [A/G] NM_153366 SVEP1 EXON Missense_L916S exm771696 9 113234507 [T/C] NM_153366 SVEP1 EXON Missense_K899R exm771705 9 113243564 [T/C] NM_153366 SVEP1 EXON Missense_V775I exm771711 9 113243677 [T/G] NM_153366 SVEP1 EXON Missense_D737A exm771713 9 113244732 [T/G] NM_153366 SVEP1 EXON Missense_D693E exm771723 9 113251951 [T/C] NM_153366 SVEP1 EXON Missense_I637V exm771726 9 113252011 [T/C] NM_153366 SVEP1 EXON Missense_I617V exm2180791 9 113252014 [A/G] NM_153366 SVEP1 EXON Missense_P616S exm2180792 9 113252047 [A/C] NM_153366 SVEP1 EXON Missense_V605F exm771731 9 113259141 [T/C] NM_153366 SVEP1 EXON Missense_N585S exm771732 9 113259152 [T/G] NM_153366 SVEP1 EXON Missense_Q581H exm2247388 9 113259165 [G/C] NM_153366 SVEP1 EXON Missense_T577S exm2180797 9 113261473 [T/G] NM_153366 SVEP1 EXON Missense_S510Y exm771739 9 113261483 [T/C] NM_153366 SVEP1 EXON Missense_V507I exm771740 9 113261515 [T/C] NM_153366 SVEP1 EXON Missense_R496H exm771747 9 113265470 [A/G] NM_153366 SVEP1 EXON Missense_P444L exm771752 9 113275207 [T/G] NM_153366 SVEP1 EXON Missense_R434S exm771753 9 113275227 [T/C] NM_153366 SVEP1 EXON Missense_G428S exm771754 9 113275241 [T/C] NM_153366 SVEP1 EXON Missense_N423S exm771756 9 113275286 [A/G] NM_153366 SVEP1 EXON Missense_P408L exm771760 9 113276356 [G/C] NM_153366 SVEP1 EXON Missense_G332A exm2259094 9 113283645 [T/C] NM_153366 SVEP1 Silent exm771773 9 113312230 [C/G] NM_153366 SVEP1 EXON Missense_R229P exm771779 9 113312293 [A/G] NM_153366 SVEP1 EXON Missense_A208V exm771780 9 113312297 [T/C] NM_153366 SVEP1 EXON Missense_I207V exm-rs3001115 9 113403846 [T/C] exm771800 9 113431265 [T/G] NM_001166280,NM_001166281,NM_005592 MUSK,MUSK,MUSK Silent,Silent,Silent exm771809 9 113449489 [T/C] NM_001166280,NM_001166281,NM_005592 MUSK,MUSK,MUSK EXON Missense_T100M,Missense_T100M,Missense_T100M exm771812 9 113449510 [A/G] NM_001166280,NM_001166281,NM_005592 MUSK,MUSK,MUSK EXON Missense_G107E,Missense_G107E,Missense_G107E exm771814 9 113457722 [T/C] NM_001166280,NM_001166281,NM_005592 MUSK,MUSK,MUSK EXON Missense_I133T,Missense_I133T,Missense_I133T exm771818 9 113457792 [C/G] NM_001166280,NM_001166281,NM_005592 MUSK,MUSK,MUSK EXON Missense_K156N,Missense_K156N,Missense_K156N exm771821 9 113457810 [G/C] NM_001166280,NM_001166281,NM_005592 MUSK,MUSK,MUSK EXON Missense_R162S,Missense_R162S,Missense_R162S exm771822 9 113459618 [T/C] NM_001166280,NM_001166281,NM_005592 MUSK,MUSK,MUSK EXON Missense_I167T,Missense_I167T,Missense_I167T exm771831 9 113490972 [A/C] NM_001166280,NM_001166281,NM_005592 MUSK,MUSK,MUSK EXON Missense_E211D,Silent,Silent exm771836 9 113496567 [A/G] NM_001166280,NM_001166281,NM_005592 MUSK,MUSK,MUSK EXON Missense_N232S,Missense_N222S,Missense_N222S exm771854 9 113530236 [A/C] NM_001166280,NM_001166281,NM_005592 MUSK,MUSK,MUSK EXON Silent,Silent,Missense_H353N exm771855 9 113530240 [T/C] NM_001166280,NM_001166281,NM_005592 MUSK,MUSK,MUSK EXON Silent,Silent,Missense_T354M exm771857 9 113530278 [T/C] NM_001166280,NM_001166281,NM_005592 MUSK,MUSK,MUSK EXON Silent,Silent,Missense_R367W exm771859 9 113538072 [T/C] NM_001166280,NM_001166281,NM_005592 MUSK,MUSK,MUSK EXON Missense_Y319H,Missense_Y309H,Missense_Y397H exm771872 9 113547226 [A/G] NM_001166280,NM_001166281,NM_005592 MUSK,MUSK,MUSK EXON Missense_I420V,Missense_I410V,Missense_I506V exm771885 9 113549974 [A/C] NM_001166280,NM_001166281,NM_005592 MUSK,MUSK,MUSK EXON Missense_P509T,Missense_P499T,Missense_P595T exm771897 9 113562600 [A/G] NM_001166280,NM_001166281,NM_005592 MUSK,MUSK,MUSK EXON Missense_G562R,Missense_G552R,Missense_G648R exm771898 9 113562609 [A/C] NM_001166280,NM_001166281,NM_005592 MUSK,MUSK,MUSK EXON Missense_M565L,Missense_M555L,Missense_M651L exm771900 9 113562649 [A/G] NM_001166280,NM_001166281,NM_005592 MUSK,MUSK,MUSK EXON Missense_N578S,Missense_N568S,Missense_N664S exm771912 9 113562945 [A/G] NM_001166280,NM_001166281,NM_005592 MUSK,MUSK,MUSK EXON Missense_A677T,Missense_A667T,Missense_A763T exm771916 9 113563026 [A/G] NM_001166280,NM_001166281,NM_005592 MUSK,MUSK,MUSK EXON Missense_V704M,Missense_V694M,Missense_V790M exm771917 9 113563051 [A/G] NM_001166280,NM_001166281,NM_005592 MUSK,MUSK,MUSK EXON Missense_Y712C,Missense_Y702C,Missense_Y798C exm771921 9 113563143 [T/G] NM_001166280,NM_001166281,NM_005592 MUSK,MUSK,MUSK EXON Missense_V743L,Missense_V733L,Missense_V829L exm771924 9 113563231 [A/G] NM_001166280,NM_001166281,NM_005592 MUSK,MUSK,MUSK EXON Missense_R772H,Missense_R762H,Missense_R858H exm2180866 9 113637741 [A/G] NM_057159,NM_001401 LPAR1,LPAR1 EXON Missense_I352T,Missense_I352T exm771939 9 113637934 [T/C] NM_057159,NM_001401 LPAR1,LPAR1 EXON Missense_D288N,Missense_D288N exm2271216 9 113667277 [T/C] NM_057159,NM_001401 LPAR1,LPAR1 Silent,Silent exm771961 9 113704268 [A/C] NM_057159,NM_001401 LPAR1,LPAR1 EXON Missense_V76F,Missense_V76F exm-rs1468758 9 113807082 [T/C] exm2266863 9 113901309 [A/G] exm-rs10980854 9 114050357 [A/G] exm771979 9 114089822 [A/C] NM_205859 OR2K2 EXON Missense_D298Y exm771980 9 114089860 [T/C] NM_205859 OR2K2 EXON Missense_N285S exm771982 9 114089882 [T/C] NM_205859 OR2K2 EXON Missense_G278R exm771985 9 114089995 [T/C] NM_205859 OR2K2 EXON Missense_C240Y exm771989 9 114090052 [A/C] NM_205859 OR2K2 EXON Missense_L221R exm771994 9 114090132 [T/C] NM_205859 OR2K2 EXON Missense_M194I exm2180887 9 114090184 [A/G] NM_205859 OR2K2 EXON Missense_T177M exm772007 9 114090277 [A/G] NM_205859 OR2K2 EXON Missense_T146M exm772009 9 114090286 [T/C] NM_205859 OR2K2 EXON Missense_R143Q exm772010 9 114090328 [A/G] NM_205859 OR2K2 EXON Missense_P129L exm772013 9 114090358 [A/G] NM_205859 OR2K2 EXON Missense_A119V exm772017 9 114090401 [A/G] NM_205859 OR2K2 EXON Missense_L105F exm772019 9 114090411 [T/C] NM_205859 OR2K2 EXON Missense_M101I exm772026 9 114090551 [T/G] NM_205859 OR2K2 EXON Missense_L55I exm772028 9 114090554 [A/G] NM_205859 OR2K2 EXON Missense_R54C exm2259097 9 114090579 [A/T] NM_205859 OR2K2 EXON Synonymous_L45L exm772033 9 114090629 [T/C] NM_205859 OR2K2 EXON Missense_V29I exm772052 9 114131383 [T/G] NM_001080398 KIAA0368 EXON Missense_Q1860P exm772055 9 114131428 [T/C] NM_001080398 KIAA0368 EXON Missense_R1845Q exm772058 9 114132745 [G/C] NM_001080398 KIAA0368 EXON Missense_F1826L exm772064 9 114133914 [A/G] NM_001080398 KIAA0368 EXON Missense_T1753M exm772070 9 114134715 [T/C] NM_001080398 KIAA0368 EXON Missense_V1686I exm772076 9 114135595 [A/C] NM_001080398 KIAA0368 EXON Synonymous_R1601R exm772081 9 114137442 [A/G] NM_001080398 KIAA0368 EXON Missense_V1532A exm772093 9 114145509 [A/G] NM_001080398 KIAA0368 EXON Missense_T1440M exm772105 9 114154073 [A/C] NM_001080398 KIAA0368 EXON Missense_V1220L exm772113 9 114156579 [T/C] NM_001080398 KIAA0368 EXON Missense_K1106R exm772118 9 114159406 [T/C] NM_001080398 KIAA0368 EXON Missense_I1072V exm2180946 9 114172355 [A/T] NM_001080398 KIAA0368 EXON Missense_L1017Q exm772127 9 114173295 [T/C] NM_001080398 KIAA0368 EXON Missense_Q959R exm772130 9 114174295 [T/C] NM_001080398 KIAA0368 EXON Missense_H916R exm772132 9 114174359 [T/C] NM_001080398 KIAA0368 EXON Missense_T895A exm772140 9 114176237 [T/C] NM_001080398 KIAA0368 EXON Missense_A851T exm772157 9 114180258 [A/G] NM_001080398 KIAA0368 EXON Missense_R708C exm772160 9 114182346 [A/T] NM_001080398 KIAA0368 EXON Missense_S682T exm772165 9 114184241 [T/C] NM_001080398 KIAA0368 EXON Missense_R650Q exm772166 9 114184259 [C/G] NM_001080398 KIAA0368 EXON Missense_T644S exm772169 9 114184416 [T/G] NM_001080398 KIAA0368 EXON Missense_K622Q exm2180974 9 114187703 [T/G] NM_001080398 KIAA0368 EXON Missense_K582Q exm772186 9 114192904 [T/G] NM_001080398 KIAA0368 EXON Missense_I463L exm772226 9 114247025 [T/C] NM_001080398 KIAA0368 EXON Missense_M1V exm772243 9 114293241 [T/C] NM_133464,NM_001007169 ZNF483,ZNF483 EXON Missense_C167R,Missense_C167R exm772248 9 114303954 [A/G] NM_133464,NM_001007169 ZNF483,ZNF483 EXON Missense_K247E,Silent exm772256 9 114304105 [A/G] NM_133464,NM_001007169 ZNF483,ZNF483 EXON Missense_G297D,Silent exm2247396 9 114304207 [C/G] NM_133464,NM_001007169 ZNF483,ZNF483 EXON Missense_R331T,Silent exm772261 9 114304260 [T/C] NM_133464,NM_001007169 ZNF483,ZNF483 EXON Missense_R349C,Silent exm772262 9 114304261 [A/G] NM_133464,NM_001007169 ZNF483,ZNF483 EXON Missense_R349H,Silent exm772263 9 114304275 [A/G] NM_133464,NM_001007169 ZNF483,ZNF483 EXON Missense_A354T,Silent exm2259098 9 114305357 [T/C] NM_133464,NM_001007169 ZNF483,ZNF483 EXON Synonymous_T714T,Silent exm2181027 9 114325415 [T/C] NM_001007169,NM_001146109,NM_001146108,NM_012212 ZNF483,PTGR1,PTGR1,PTGR1 EXON Silent,Silent,Missense_I326V,Missense_I326V exm772286 9 114332369 [A/G] NM_001007169,NM_001146109,NM_001146108,NM_012212 ZNF483,PTGR1,PTGR1,PTGR1 Silent,Silent,Silent,Silent exm772290 9 114332412 [A/G] NM_001007169,NM_001146109,NM_001146108,NM_012212 ZNF483,PTGR1,PTGR1,PTGR1 EXON Silent,Missense_R280C,Missense_R280C,Missense_R280C exm772294 9 114332453 [T/C] NM_001007169,NM_001146109,NM_001146108,NM_012212 ZNF483,PTGR1,PTGR1,PTGR1 EXON Silent,Missense_R266H,Missense_R266H,Missense_R266H exm772301 9 114337092 [T/C] NM_001007169,NM_001146109,NM_001146108,NM_012212 ZNF483,PTGR1,PTGR1,PTGR1 EXON Silent,Missense_G228S,Missense_G228S,Missense_G228S exm772307 9 114341111 [A/C] NM_001146109,NM_001146108,NM_012212 PTGR1,PTGR1,PTGR1 EXON Missense_A206S,Missense_A206S,Missense_A206S exm772308 9 114341122 [A/G] NM_001146109,NM_001146108,NM_012212 PTGR1,PTGR1,PTGR1 EXON Missense_T202I,Missense_T202I,Missense_T202I exm772311 9 114341147 [T/C] NM_001146109,NM_001146108,NM_012212 PTGR1,PTGR1,PTGR1 EXON Missense_K194E,Missense_K194E,Missense_K194E exm772312 9 114341159 [T/C] NM_001146109,NM_001146108,NM_012212 PTGR1,PTGR1,PTGR1 EXON Missense_V190I,Missense_V190I,Missense_V190I exm772315 9 114341221 [A/G] NM_001146109,NM_001146108,NM_012212 PTGR1,PTGR1,PTGR1 EXON Missense_V169A,Missense_V169A,Missense_V169A exm772319 9 114345759 [T/A] NM_001146109,NM_001146108,NM_012212 PTGR1,PTGR1,PTGR1 EXON Missense_K163M,Missense_K163M,Missense_K163M exm772324 9 114348373 [C/G] NM_001146109,NM_001146108,NM_012212 PTGR1,PTGR1,PTGR1 EXON Missense_H94Q,Missense_H94Q,Missense_H94Q exm772339 9 114359624 [A/C] NM_001146109,NM_001146108,NM_012212 PTGR1,PTGR1,PTGR1 EXON Missense_A27S,Missense_A27S,Missense_A27S exm2266864 9 114382444 [A/G] exm-rs7875749 9 114387135 [A/G] exm772378 9 114415469 [A/C] NM_004125,NM_001015882,NR_037148 DNAJC25-GNG10,DNAJC25,DNAJC25 EXON Silent,Missense_E350D,Silent exm772401 9 114449112 [A/G] NM_001080551,NM_173521 C9orf84,C9orf84 EXON Missense_R1386C,Missense_R1425C exm772407 9 114453843 [T/C] NM_001080551,NM_173521 C9orf84,C9orf84 EXON Missense_E1369K,Missense_E1408K exm772408 9 114453925 [T/G] NM_001080551,NM_173521 C9orf84,C9orf84 EXON Missense_N1341K,Missense_N1380K exm772411 9 114453962 [T/C] NM_001080551,NM_173521 C9orf84,C9orf84 EXON Missense_R1329H,Missense_R1368H exm772412 9 114454046 [T/C] NM_001080551,NM_173521 C9orf84,C9orf84 EXON Missense_E1301G,Missense_E1340G exm772413 9 114454058 [T/C] NM_001080551,NM_173521 C9orf84,C9orf84 EXON Missense_C1297Y,Missense_C1336Y exm772417 9 114454183 [T/C] NM_001080551,NM_173521 C9orf84,C9orf84 EXON Nonsense_W1255X,Nonsense_W1294X exm772429 9 114454544 [T/C] NM_001080551,NM_173521 C9orf84,C9orf84 EXON Missense_E1135G,Missense_E1174G exm772430 9 114454570 [T/G] NM_001080551,NM_173521 C9orf84,C9orf84 EXON Missense_D1126E,Missense_D1165E exm772432 9 114454580 [A/G] NM_001080551,NM_173521 C9orf84,C9orf84 EXON Missense_I1123T,Missense_I1162T exm772438 9 114454721 [A/G] NM_001080551,NM_173521 C9orf84,C9orf84 EXON Missense_S1076L,Missense_S1115L exm772443 9 114456228 [T/C] NM_001080551,NM_173521 C9orf84,C9orf84 EXON Missense_E1003K,Missense_E1042K exm772448 9 114462286 [A/G] NM_001080551,NM_173521 C9orf84,C9orf84 EXON Missense_I941T,Missense_I980T exm772449 9 114462322 [A/G] NM_001080551,NM_173521 C9orf84,C9orf84 EXON Missense_L929P,Missense_L968P exm772450 9 114464401 [T/C] NM_001080551,NM_173521 C9orf84,C9orf84 EXON Missense_E922K,Missense_E961K exm772452 9 114464487 [T/C] NM_001080551,NM_173521 C9orf84,C9orf84 EXON Missense_Y893C,Missense_Y932C exm772459 9 114468966 [A/C] NM_001080551,NM_173521 C9orf84,C9orf84 EXON Missense_N770K,Missense_N809K exm772461 9 114469000 [T/C] NM_001080551,NM_173521 C9orf84,C9orf84 EXON Missense_N759S,Missense_N798S exm772466 9 114470138 [T/C] NM_001080551,NM_173521 C9orf84,C9orf84 EXON Missense_R749K,Missense_R788K exm772468 9 114470154 [T/A] NM_001080551,NM_173521 C9orf84,C9orf84 EXON Missense_S744T,Missense_S783T exm772470 9 114475404 [T/G] NM_001080551,NM_173521 C9orf84,C9orf84 EXON Missense_I719L,Missense_I758L exm772472 9 114475440 [T/C] NM_001080551,NM_173521 C9orf84,C9orf84 EXON Missense_I707V,Missense_I746V exm772474 9 114476748 [A/T] NM_001080551,NM_173521 C9orf84,C9orf84 EXON Missense_M695L,Missense_M734L exm772475 9 114476779 [T/C] NM_001080551,NM_173521 C9orf84,C9orf84 EXON Missense_I684M,Missense_I723M exm772479 9 114476849 [C/G] NM_001080551,NM_173521 C9orf84,C9orf84 EXON Missense_G661A,Missense_G700A exm772482 9 114480562 [A/G] NM_001080551,NM_173521 C9orf84,C9orf84 EXON Missense_I610T,Missense_I649T exm772489 9 114484744 [T/G] NM_001080551,NM_173521 C9orf84,C9orf84 EXON Missense_Q589H,Missense_Q628H exm772495 9 114484836 [T/C] NM_001080551,NM_173521 C9orf84,C9orf84 EXON Missense_E559K,Missense_E598K exm772509 9 114490308 [T/C] NM_001080551,NM_173521 C9orf84,C9orf84 EXON Missense_H377R,Missense_H416R exm772513 9 114500560 [A/G] NM_001080551,NM_173521 C9orf84,C9orf84 EXON Missense_S370P,Missense_S409P exm772514 9 114500601 [T/G] NM_001080551,NM_173521 C9orf84,C9orf84 EXON Missense_K356T,Missense_K395T exm772531 9 114508557 [A/G] NM_001080551,NM_173521 C9orf84,C9orf84 EXON Missense_R243C,Missense_R282C exm772532 9 114510393 [T/G] NM_001080551,NM_173521 C9orf84,C9orf84 EXON Missense_P214T,Missense_P253T exm772535 9 114510473 [G/C] NM_001080551,NM_173521 C9orf84,C9orf84 EXON Missense_T187S,Missense_T226S exm772538 9 114518685 [A/G] NM_001080551,NM_173521 C9orf84,C9orf84 EXON Missense_L158P,Missense_L197P exm772539 9 114518688 [A/G] NM_001080551,NM_173521 C9orf84,C9orf84 EXON Missense_S157L,Missense_S196L exm772542 9 114518743 [T/C] NM_001080551,NM_173521 C9orf84,C9orf84 EXON Missense_I139V,Missense_I178V exm772543 9 114520363 [A/C] NM_001080551,NM_173521 C9orf84,C9orf84 Silent,Silent exm772561 9 114521516 [T/C] NM_001080551,NM_173521 C9orf84,C9orf84 EXON Missense_Q18R,Silent exm772568 9 114538169 [A/T] NM_173521 C9orf84 EXON Missense_V51E exm772570 9 114538175 [A/G] NM_173521 C9orf84 EXON Missense_I49T exm772572 9 114538203 [A/C] NM_173521 C9orf84 EXON Missense_V40F exm-rs7043162 9 114641291 [A/C] exm772606 9 114691901 [T/C] NM_003358 UGCG EXON Missense_I227T exm772629 9 114820731 [A/G] NR_036085,NM_022486 MIR3134,SUSD1 EXON Silent,Nonsense_R696X exm772638 9 114825260 [A/G] NR_036085,NM_022486 MIR3134,SUSD1 EXON Silent,Missense_R603C exm772640 9 114825299 [T/C] NR_036085,NM_022486 MIR3134,SUSD1 EXON Silent,Missense_E590K exm2262578 9 114831896 [A/G] NR_036085,NM_022486 MIR3134,SUSD1 Silent,Silent exm772648 9 114842383 [T/C] NR_036085,NM_022486 MIR3134,SUSD1 EXON Silent,Missense_K513E exm772650 9 114842393 [T/C] NR_036085,NM_022486 MIR3134,SUSD1 EXON Silent,Nonsense_W509X exm-rs2782931 9 114850190 [T/C] NR_036085,NM_022486 MIR3134,SUSD1 Silent,Silent exm2259100 9 114858776 [T/C] NR_036085,NM_022486 MIR3134,SUSD1 Silent,Silent exm772654 9 114860786 [A/G] NR_036085,NM_022486 MIR3134,SUSD1 EXON Silent,Missense_H480Y exm772662 9 114864492 [A/C] NR_036085,NM_022486 MIR3134,SUSD1 EXON Silent,Missense_R415S exm772670 9 114873997 [T/C] NR_036085,NM_022486 MIR3134,SUSD1 EXON Silent,Missense_V370M exm772677 9 114875089 [T/C] NR_036085,NM_022486 MIR3134,SUSD1 EXON Silent,Missense_I316V exm2181157 9 114875127 [T/C] NR_036085,NM_022486 MIR3134,SUSD1 EXON Silent,Missense_D303G exm772680 9 114886569 [T/C] NR_036085,NM_022486 MIR3134,SUSD1 EXON Silent,Missense_G285D exm772684 9 114886636 [A/G] NR_036085,NM_022486 MIR3134,SUSD1 EXON Silent,Missense_R263C exm2259101 9 114904616 [T/G] NR_036085,NM_022486 MIR3134,SUSD1 EXON Silent,Synonymous_P230P exm772690 9 114904620 [T/G] NR_036085,NM_022486 MIR3134,SUSD1 EXON Silent,Missense_S229Y exm772693 9 114904705 [C/G] NR_036085,NM_022486 MIR3134,SUSD1 EXON Silent,Missense_Q201E exm772697 9 114904722 [A/G] NR_036085,NM_022486 MIR3134,SUSD1 EXON Silent,Missense_T195M exm2181164 9 114904734 [A/G] NR_036085,NM_022486 MIR3134,SUSD1 EXON Silent,Missense_I191T exm772701 9 114905753 [A/G] NR_036085,NM_022486 MIR3134,SUSD1 EXON Silent,Missense_T175I exm772709 9 114911578 [A/G] NR_036085,NM_022486 MIR3134,SUSD1 EXON Silent,Nonsense_R107X exm772713 9 114911635 [A/G] NR_036085,NM_022486 MIR3134,SUSD1 EXON Silent,Missense_H88Y exm2247402 9 114986453 [T/C] NR_036085,NM_005156,NM_001244896,NM_001163790,NM_001163788,NM_001244898,NM_001244897 MIR3134,PTBP3,PTBP3,PTBP3,PTBP3,PTBP3,PTBP3 EXON Silent,Missense_I496V,Missense_I401V,Missense_I499V,Missense_I468V,Missense_I502V,Missense_I468V exm772748 9 114989847 [T/C] NR_036085,NM_005156,NM_001244896,NM_001163790,NM_001163788,NM_001244898,NM_001244897 MIR3134,PTBP3,PTBP3,PTBP3,PTBP3,PTBP3,PTBP3 EXON Silent,Missense_K431R,Missense_K336R,Missense_K434R,Missense_K403R,Missense_K437R,Missense_K403R exm772749 9 114989862 [T/C] NR_036085,NM_005156,NM_001244896,NM_001163790,NM_001163788,NM_001244898,NM_001244897 MIR3134,PTBP3,PTBP3,PTBP3,PTBP3,PTBP3,PTBP3 EXON Silent,Missense_R426H,Missense_R331H,Missense_R429H,Missense_R398H,Missense_R432H,Missense_R398H exm772754 9 114994395 [C/G] NR_036085,NM_005156,NM_001244896,NM_001163790,NM_001163788,NM_001244898,NM_001244897 MIR3134,PTBP3,PTBP3,PTBP3,PTBP3,PTBP3,PTBP3 EXON Silent,Missense_T363R,Missense_T268R,Missense_T366R,Missense_T335R,Missense_T369R,Missense_T335R exm772755 9 114994396 [A/T] NR_036085,NM_005156,NM_001244896,NM_001163790,NM_001163788,NM_001244898,NM_001244897 MIR3134,PTBP3,PTBP3,PTBP3,PTBP3,PTBP3,PTBP3 EXON Silent,Missense_T363S,Missense_T268S,Missense_T366S,Missense_T335S,Missense_T369S,Missense_T335S exm772762 9 114997168 [C/G] NR_036085,NM_005156,NM_001244896,NM_001163790,NM_001163788,NM_001244898,NM_001244897 MIR3134,PTBP3,PTBP3,PTBP3,PTBP3,PTBP3,PTBP3 EXON Silent,Missense_G299A,Missense_G204A,Missense_G302A,Missense_G271A,Missense_G305A,Missense_G271A exm772765 9 115013224 [T/C] NR_036085,NM_005156,NM_001244896,NM_001163790,NM_001163788,NM_001244898,NM_001244897 MIR3134,PTBP3,PTBP3,PTBP3,PTBP3,PTBP3,PTBP3 EXON Silent,Missense_M291V,Missense_M196V,Missense_M294V,Missense_M263V,Missense_M297V,Missense_M263V exm772774 9 115024842 [T/G] NR_036085,NM_005156,NM_001244896,NM_001163790,NM_001163788,NM_001244898,NM_001244897 MIR3134,PTBP3,PTBP3,PTBP3,PTBP3,PTBP3,PTBP3 EXON Silent,Missense_Q158P,Missense_Q63P,Missense_Q161P,Missense_Q130P,Missense_Q164P,Missense_Q130P exm772784 9 115038199 [A/G] NR_036085,NM_005156,NM_001244896,NM_001163790,NM_001163788,NM_001244898,NM_001244897 MIR3134,PTBP3,PTBP3,PTBP3,PTBP3,PTBP3,PTBP3 EXON Silent,Synonymous_T71T,Silent,Synonymous_T74T,Synonymous_T43T,Synonymous_T77T,Synonymous_T43T exm2271132 9 115155264 [T/C] NR_036651,NM_001195822,NM_032303 HSDL2,HSDL2,HSDL2 Silent,Silent,Silent exm772827 9 115167994 [T/A] NR_036651,NM_001195822,NM_032303 HSDL2,HSDL2,HSDL2 EXON Silent,Missense_K91I,Missense_K91I exm772851 9 115200777 [A/G] NR_036651,NM_001195822,NM_032303 HSDL2,HSDL2,HSDL2 EXON Silent,Missense_D149G,Missense_D222G exm772855 9 115216344 [A/G] NR_036651,NM_001195822,NM_032303 HSDL2,HSDL2,HSDL2 EXON Silent,Missense_R233H,Missense_R306H exm772857 9 115216441 [T/C] NR_036651,NM_001195822,NM_032303 HSDL2,HSDL2,HSDL2 EXON Silent,Synonymous_S265S,Synonymous_S338S exm772859 9 115221766 [A/C] NR_036651,NM_001195822,NM_032303 HSDL2,HSDL2,HSDL2 EXON Silent,Missense_S278R,Missense_S351R exm772873 9 115336625 [A/G] NM_133465 KIAA1958 EXON Missense_G89R exm772880 9 115336851 [T/C] NM_133465 KIAA1958 EXON Missense_T164I exm772882 9 115336889 [A/G] NM_133465 KIAA1958 EXON Missense_V177I exm772892 9 115337246 [C/G] NM_133465 KIAA1958 EXON Missense_P296A exm2266934 9 115416257 [A/G] NM_133465 KIAA1958 Silent exm772938 9 115421999 [A/G] NM_133465 KIAA1958 EXON Missense_V601I exm772961 9 115456447 [A/C] NM_021218 INIP EXON Missense_M31R exm772994 9 115598610 [A/G] NM_001012994 SNX30 EXON Missense_I245M exm772996 9 115598629 [T/C] NM_001012994 SNX30 EXON Missense_F252L exm772998 9 115600817 [T/C] NM_001012994 SNX30 EXON Missense_S285F exm773022 9 115642095 [T/C] NM_033051 SLC46A2 EXON Missense_V459M exm773024 9 115648852 [T/C] NM_033051 SLC46A2 EXON Missense_V420M exm773025 9 115648885 [T/C] NM_033051 SLC46A2 EXON Missense_V409I exm2181293 9 115649609 [T/C] NM_033051 SLC46A2 Silent exm773028 9 115651865 [A/G] NM_033051 SLC46A2 EXON Missense_A366V exm773031 9 115651904 [A/G] NM_033051 SLC46A2 EXON Missense_I353T exm773033 9 115651982 [C/G] NM_033051 SLC46A2 EXON Missense_G327A exm773043 9 115652193 [T/C] NM_033051 SLC46A2 EXON Missense_D257N exm773047 9 115652255 [G/C] NM_033051 SLC46A2 EXON Missense_P236R exm773056 9 115652371 [A/C] NM_033051 SLC46A2 EXON Missense_Q197H exm773060 9 115652463 [T/C] NM_033051 SLC46A2 EXON Missense_G167S exm773063 9 115652551 [T/G] NM_033051 SLC46A2 EXON Nonsense_Y137X exm773081 9 115652778 [A/G] NM_033051 SLC46A2 EXON Missense_P62S exm773087 9 115652927 [T/G] NM_033051 SLC46A2 EXON Missense_H12P exm773088 9 115652936 [T/C] NM_033051 SLC46A2 EXON Missense_R9Q exm2271133 9 115676986 [T/C] exm773097 9 115759519 [A/G] NM_001101338 ZNF883 EXON Nonsense_R341X exm773099 9 115759539 [G/C] NM_001101338 ZNF883 EXON Nonsense_S334X exm773103 9 115759599 [A/G] NM_001101338 ZNF883 EXON Missense_T314M exm773104 9 115759612 [A/G] NM_001101338 ZNF883 EXON Nonsense_R310X exm773113 9 115759782 [G/C] NM_001101338 ZNF883 EXON Missense_T253S exm773122 9 115759980 [T/C] NM_001101338 ZNF883 EXON Missense_R187Q exm773137 9 115760450 [A/C] NM_001101338 ZNF883 EXON Missense_Q30H exm773146 9 115805036 [T/G] NM_003408 ZFP37 EXON Missense_K621T exm773147 9 115805169 [T/C] NM_003408 ZFP37 EXON Missense_E577K exm773157 9 115805336 [T/C] NM_003408 ZFP37 EXON Missense_Q521R exm773163 9 115805508 [T/C] NM_003408 ZFP37 EXON Missense_N464D exm773174 9 115805865 [T/C] NM_003408 ZFP37 EXON Missense_G345R exm773182 9 115806006 [A/G] NM_003408 ZFP37 EXON Missense_C298R exm773193 9 115806375 [T/G] NM_003408 ZFP37 EXON Missense_L175I exm773194 9 115806384 [T/C] NM_003408 ZFP37 EXON Missense_K172E exm773201 9 115811720 [A/G] NM_003408 ZFP37 EXON Missense_W91R exm773204 9 115812095 [A/T] NM_003408 ZFP37 EXON Missense_N64Y exm773206 9 115812140 [T/G] NM_003408 ZFP37 EXON Missense_L49M exm773210 9 115818949 [A/T] NM_003408 ZFP37 EXON Missense_V7D exm773221 9 115920037 [T/C] NM_001860 SLC31A2 EXON Missense_L13F exm2181337 9 115923801 [T/C] NM_001860 SLC31A2 EXON Missense_S29L exm773230 9 115923942 [A/G] NM_001860 SLC31A2 EXON Missense_G76D exm773238 9 115928396 [T/C] NM_015258 FKBP15 EXON Missense_D1208N exm773244 9 115931512 [G/C] NM_015258 FKBP15 EXON Missense_Q1159H exm773256 9 115931746 [C/G] NM_015258 FKBP15 EXON Missense_R1081S exm773257 9 115931784 [A/C] NM_015258 FKBP15 EXON Missense_A1069S exm773265 9 115932011 [A/G] NM_015258 FKBP15 EXON Missense_P993L exm773266 9 115932012 [T/G] NM_015258 FKBP15 EXON Missense_P993T exm773275 9 115932824 [T/C] NM_015258 FKBP15 EXON Missense_G915E exm773281 9 115933884 [G/C] NM_015258 FKBP15 EXON Missense_A879P exm773285 9 115933980 [A/C] NM_015258 FKBP15 EXON Missense_A847S exm773295 9 115936748 [T/C] NM_015258 FKBP15 EXON Missense_K780R exm2247413 9 115938945 [T/C] NM_015258 FKBP15 EXON Missense_E699K exm2247414 9 115947009 [T/G] NM_015258 FKBP15 EXON Missense_K525T exm773321 9 115948556 [G/C] NM_015258 FKBP15 EXON Missense_P491A exm773333 9 115950114 [T/C] NM_015258 FKBP15 EXON Missense_D448N exm773336 9 115950141 [T/C] NM_015258 FKBP15 EXON Missense_A439T exm773338 9 115950156 [A/G] NM_015258 FKBP15 EXON Missense_L434F exm773342 9 115950706 [A/C] NM_015258 FKBP15 EXON Missense_H413Q exm773348 9 115952822 [T/C] NM_015258 FKBP15 EXON Missense_M368V exm773358 9 115956400 [T/C] NM_015258 FKBP15 EXON Missense_R305H exm773359 9 115956406 [G/C] NM_015258 FKBP15 EXON Missense_S303T exm773364 9 115959341 [A/C] NM_015258 FKBP15 EXON Missense_M245I exm773373 9 115962123 [A/G] NM_015258 FKBP15 EXON Missense_W207R exm2181389 9 115962182 [A/G] NM_015258 FKBP15 EXON Missense_I187T exm773375 9 115962242 [A/G] NM_015258 FKBP15 EXON Missense_V167A exm773386 9 115968797 [T/C] NM_015258 FKBP15 EXON Missense_A106T exm2181397 9 115973762 [A/G] NM_015258 FKBP15 EXON Missense_A55V exm773396 9 115973768 [A/G] NM_015258 FKBP15 EXON Missense_T53M exm2264354 9 116025024 [A/C] NM_001859 SLC31A1 EXON Silent exm773441 9 116029710 [T/C] NM_139286 CDC26 EXON Missense_K31E exm773456 9 116041249 [A/G] NM_001244926,NM_004697 PRPF4,PRPF4 EXON Missense_H77R,Missense_H78R exm773461 9 116045007 [A/C] NM_001244926,NM_004697 PRPF4,PRPF4 EXON Missense_K158N,Missense_K159N exm773472 9 116045691 [A/G] NM_001244926,NM_004697 PRPF4,PRPF4 EXON Missense_A195T,Missense_A196T exm773473 9 116046642 [A/G] NM_001244926,NM_004697 PRPF4,PRPF4 EXON Missense_N241S,Missense_N242S exm2181438 9 116049104 [A/G] NM_001244926,NM_004697 PRPF4,PRPF4 EXON Missense_D310N,Missense_D311N exm773494 9 116053252 [T/C] NM_001244926,NM_004697 PRPF4,PRPF4 EXON Missense_T443I,Missense_T444I exm773501 9 116053878 [A/G] NM_001244926,NM_004697 PRPF4,PRPF4 EXON Missense_D502N,Missense_D503N exm773506 9 116059983 [T/C] NM_145051 RNF183 EXON Missense_R161H exm773525 9 116060124 [T/C] NM_145051 RNF183 EXON Missense_Q114R exm773529 9 116060212 [A/G] NM_145051 RNF183 EXON Missense_R85C exm773531 9 116060221 [T/C] NM_145051 RNF183 EXON Missense_A82T exm773532 9 116060224 [A/G] NM_145051 RNF183 EXON Missense_L81F exm773533 9 116060286 [T/C] NM_145051 RNF183 EXON Missense_R60H exm773535 9 116060346 [T/C] NM_145051 RNF183 EXON Missense_C40Y exm773536 9 116060347 [A/C] NM_145051 RNF183 EXON Missense_C40G exm773537 9 116060353 [T/C] NM_145051 RNF183 EXON Missense_V38M exm773541 9 116060445 [T/C] NM_145051 RNF183 EXON Missense_R7Q exm773547 9 116080766 [T/C] NM_145241,NM_001012361 WDR31,WDR31 EXON Missense_Q310R,Missense_Q311R exm773550 9 116080820 [A/G] NM_145241,NM_001012361 WDR31,WDR31 EXON Missense_L292S,Missense_L293S exm773553 9 116080917 [A/G] NM_145241,NM_001012361 WDR31,WDR31 EXON Synonymous_L260L,Synonymous_L261L exm773557 9 116082754 [A/C] NM_145241,NM_001012361 WDR31,WDR31 EXON Missense_Q220H,Missense_Q221H exm773558 9 116082764 [T/C] NM_145241,NM_001012361 WDR31,WDR31 EXON Missense_R217Q,Missense_R218Q exm773562 9 116083816 [A/G] NM_145241,NM_001012361 WDR31,WDR31 EXON Nonsense_Q204X,Nonsense_Q205X exm773564 9 116083820 [T/C] NM_145241,NM_001012361 WDR31,WDR31 EXON Missense_I202M,Missense_I203M exm773573 9 116085423 [A/G] NM_145241,NM_001012361 WDR31,WDR31 EXON Missense_P112S,Missense_P113S exm773578 9 116091203 [A/C] NM_145241,NM_001012361 WDR31,WDR31 EXON Missense_N93K,Missense_N94K exm773598 9 116116523 [A/G] NM_017688 BSPRY EXON Missense_K69E exm773615 9 116122967 [T/C] NM_017688 BSPRY EXON Missense_R161C exm773620 9 116130552 [A/G] NM_017688 BSPRY EXON Missense_E191K exm773622 9 116130609 [T/C] NM_017688 BSPRY EXON Missense_R210W exm773631 9 116131994 [C/G] NM_017688 BSPRY EXON Missense_A261P exm773634 9 116132015 [T/C] NM_017688 BSPRY EXON Missense_R268C exm773638 9 116132092 [G/C] NM_017688 BSPRY EXON Missense_Q293H exm773644 9 116132231 [A/G] NM_017688 BSPRY EXON Missense_G340R exm773648 9 116132277 [A/G] NM_017688 BSPRY EXON Missense_G355D exm773652 9 116132330 [A/G] NM_017688 BSPRY EXON Missense_G373S exm773653 9 116132334 [T/C] NM_017688 BSPRY EXON Missense_T374I exm773654 9 116132364 [T/C] NM_017688 BSPRY EXON Missense_P384L exm773664 9 116135892 [A/G] NM_031219 HDHD3 EXON Missense_T248I exm773666 9 116135967 [A/T] NM_031219 HDHD3 EXON Missense_D223V exm773673 9 116136139 [A/G] NM_031219 HDHD3 EXON Missense_P166S exm773678 9 116136198 [T/C] NM_031219 HDHD3 EXON Missense_G146E exm773680 9 116136209 [G/C] NM_031219 HDHD3 EXON Missense_E142D exm773681 9 116136217 [A/G] NM_031219 HDHD3 EXON Missense_R140W exm773693 9 116136473 [A/C] NM_031219 HDHD3 EXON Missense_R54S exm773701 9 116136603 [A/G] NM_031219 HDHD3 EXON Missense_T11M exm-rs1805313 9 116151191 [A/G] NM_000031 ALAD Silent exm773708 9 116151277 [A/G] NM_000031 ALAD EXON Missense_M304T exm773714 9 116151734 [T/C] NM_000031 ALAD EXON Missense_R262Q exm773719 9 116151795 [T/C] NM_000031 ALAD EXON Missense_V242I exm773729 9 116152053 [T/C] NM_000031 ALAD EXON Missense_R209Q exm773740 9 116152914 [T/C] NM_000031 ALAD EXON Missense_R147H exm773756 9 116153198 [T/C] NM_000031 ALAD EXON Missense_A93T exm773766 9 116153891 [G/C] NM_000031 ALAD EXON Missense_K59N exm773792 9 116171123 [G/C] NM_017443,NR_027261 POLE3,POLE3 EXON Missense_E138Q,Silent exm773797 9 116171227 [C/G] NM_017443,NR_027261 POLE3,POLE3 EXON Nonsense_S103X,Silent exm773811 9 116172404 [T/C] NM_017443,NR_027261 POLE3,POLE3 EXON Missense_N28S,Silent exm773826 9 116175858 [T/C] NM_152786 C9orf43 EXON Missense_R29C exm773837 9 116181419 [A/G] NM_152786 C9orf43 EXON Missense_I107V exm773838 9 116181423 [A/G] NM_152786 C9orf43 EXON Missense_N108S exm773858 9 116185703 [T/C] NM_152786 C9orf43 EXON Missense_L194S exm773867 9 116185777 [T/G] NM_152786 C9orf43 EXON Nonsense_E219X exm773872 9 116186512 [T/A] NM_152786 C9orf43 EXON Missense_K241N exm773874 9 116186544 [A/G] NM_152786 C9orf43 EXON Missense_D252G exm773875 9 116186571 [T/C] NM_152786 C9orf43 EXON Missense_L261P exm773877 9 116187302 [C/G] NM_152786 C9orf43 EXON Missense_P271A exm773878 9 116187311 [T/C] NM_152786 C9orf43 EXON Nonsense_R274X exm773880 9 116187323 [T/C] NM_152786 C9orf43 EXON Missense_R278C exm773890 9 116187942 [A/G] NM_152786 C9orf43 EXON Missense_K321R exm773892 9 116187960 [A/G] NM_152786 C9orf43 EXON Missense_Q327R exm773894 9 116187973 [T/G] NM_152786 C9orf43 EXON Missense_H331Q exm773909 9 116191205 [A/C] NM_152786 C9orf43 EXON Missense_N378T exm773910 9 116191244 [A/G] NM_152786 C9orf43 Silent exm2181575 9 116191485 [A/G] NM_152786 C9orf43 EXON Missense_K402R exm773913 9 116191508 [A/G] NM_152786 C9orf43 EXON Missense_A410T exm773919 9 116191655 [A/G] NM_152786 C9orf43 EXON Missense_G459R exm773932 9 116224308 [A/G] NM_144488 RGS3 EXON Missense_H81R exm773935 9 116224374 [T/G] NM_144488 RGS3 EXON Missense_G103V exm2181582 9 116224403 [A/G] NM_144488 RGS3 EXON Missense_A113T exm2247422 9 116224443 [A/C] NM_144488 RGS3 EXON Missense_A126D exm773940 9 116224452 [A/G] NM_144488 RGS3 EXON Missense_R129K exm773944 9 116226120 [A/G] NM_144488,NR_074077,NM_017790 RGS3,RGS3,RGS3 EXON Silent,Silent,Missense_R13Q exm773946 9 116226146 [T/C] NM_144488,NR_074077,NM_017790 RGS3,RGS3,RGS3 EXON Silent,Silent,Missense_Y22H exm773948 9 116241775 [C/G] NM_144488,NR_074077,NM_017790 RGS3,RGS3,RGS3 EXON Missense_Q140H,Silent,Missense_Q28H exm773949 9 116241803 [T/C] NM_144488,NR_074077,NM_017790 RGS3,RGS3,RGS3 EXON Missense_R150W,Silent,Missense_R38W exm773966 9 116247960 [C/G] NM_144488,NR_074077,NM_017790 RGS3,RGS3,RGS3 EXON Missense_A226P,Silent,Missense_A114P exm773969 9 116258076 [T/C] NM_144488,NR_074077,NM_017790 RGS3,RGS3,RGS3 EXON Missense_L234F,Silent,Missense_L122F exm773971 9 116259666 [T/C] NM_144488,NR_074077,NM_017790 RGS3,RGS3,RGS3 EXON Nonsense_R275X,Silent,Nonsense_R163X exm773988 9 116267802 [T/C] NM_144488,NR_074077,NM_017790,NM_001276261,NM_130795 RGS3,RGS3,RGS3,RGS3,RGS3 EXON Synonymous_S326S,Silent,Synonymous_S214S,Synonymous_S45S,Synonymous_S45S exm2181605 9 116269760 [A/G] NM_144488,NR_074077,NM_017790,NM_001276261,NM_130795 RGS3,RGS3,RGS3,RGS3,RGS3 EXON Missense_V427I,Silent,Missense_V315I,Missense_V146I,Missense_V146I exm774000 9 116269770 [A/G] NM_144488,NR_074077,NM_017790,NM_001276261,NM_130795 RGS3,RGS3,RGS3,RGS3,RGS3 EXON Missense_S430N,Silent,Missense_S318N,Missense_S149N,Missense_S149N exm774006 9 116269815 [T/C] NM_144488,NR_074077,NM_017790,NM_001276261,NM_130795 RGS3,RGS3,RGS3,RGS3,RGS3 EXON Missense_V445A,Silent,Missense_V333A,Missense_V164A,Missense_V164A exm774032 9 116285267 [T/C] NM_144488,NR_074077,NM_017790,NM_001276261,NM_130795 RGS3,RGS3,RGS3,RGS3,RGS3 EXON Missense_R606C,Silent,Missense_R494C,Missense_R325C,Missense_R325C exm774035 9 116285321 [C/G] NM_144488,NR_074077,NM_017790,NM_001276261,NM_130795 RGS3,RGS3,RGS3,RGS3,RGS3 EXON Missense_G624R,Silent,Missense_G512R,Missense_G343R,Missense_G343R exm774036 9 116291511 [A/C] NM_144488,NR_074077,NM_017790,NM_001276261,NM_130795 RGS3,RGS3,RGS3,RGS3,RGS3 EXON Missense_E627D,Silent,Missense_E515D,Missense_E346D,Missense_E346D exm774045 9 116303615 [A/G] NM_144488,NR_074077,NM_017790,NM_001276261,NM_130795,NM_001276260 RGS3,RGS3,RGS3,RGS3,RGS3,RGS3 EXON Silent,Silent,Missense_G573S,Silent,Silent,Silent exm774066 9 116345968 [T/C] NM_144488,NR_074077,NM_001276261,NM_130795,NM_001276260,NM_134427,NM_021106,NR_074078 RGS3,RGS3,RGS3,RGS3,RGS3,RGS3,RGS3,RGS3 EXON Missense_P759L,Silent,Silent,Missense_P478L,Missense_P80L,Silent,Missense_P80L,Silent exm774074 9 116346115 [A/C] NM_144488,NR_074077,NM_001276261,NM_130795,NM_001276260,NM_134427,NM_021106,NR_074078 RGS3,RGS3,RGS3,RGS3,RGS3,RGS3,RGS3,RGS3 EXON Missense_T808N,Silent,Silent,Missense_T527N,Missense_T129N,Silent,Missense_T129N,Silent exm774075 9 116346118 [A/G] NM_144488,NR_074077,NM_001276261,NM_130795,NM_001276260,NM_134427,NM_021106,NR_074078 RGS3,RGS3,RGS3,RGS3,RGS3,RGS3,RGS3,RGS3 EXON Missense_R809Q,Silent,Silent,Missense_R528Q,Missense_R130Q,Silent,Missense_R130Q,Silent exm774076 9 116346120 [T/G] NM_144488,NR_074077,NM_001276261,NM_130795,NM_001276260,NM_134427,NM_021106,NR_074078 RGS3,RGS3,RGS3,RGS3,RGS3,RGS3,RGS3,RGS3 EXON Missense_D810Y,Silent,Silent,Missense_D529Y,Missense_D131Y,Silent,Missense_D131Y,Silent exm774081 9 116346195 [A/G] NM_144488,NR_074077,NM_001276261,NM_130795,NM_001276260,NM_134427,NM_021106,NR_074078 RGS3,RGS3,RGS3,RGS3,RGS3,RGS3,RGS3,RGS3 EXON Missense_S835G,Silent,Silent,Missense_S554G,Missense_S156G,Silent,Missense_S156G,Silent exm774084 9 116346231 [T/C] NM_144488,NR_074077,NM_001276261,NM_130795,NM_001276260,NM_134427,NM_021106,NR_074078 RGS3,RGS3,RGS3,RGS3,RGS3,RGS3,RGS3,RGS3 EXON Missense_P847S,Silent,Silent,Missense_P566S,Missense_P168S,Silent,Missense_P168S,Silent exm774096 9 116346348 [A/G] NM_144488,NR_074077,NM_001276261,NM_130795,NM_001276260,NM_134427,NM_021106,NR_074078 RGS3,RGS3,RGS3,RGS3,RGS3,RGS3,RGS3,RGS3 EXON Missense_E886K,Silent,Silent,Missense_E605K,Missense_E207K,Silent,Missense_E207K,Silent exm774101 9 116346394 [A/C] NM_144488,NR_074077,NM_001276261,NM_130795,NM_001276260,NM_134427,NM_021106,NR_074078 RGS3,RGS3,RGS3,RGS3,RGS3,RGS3,RGS3,RGS3 EXON Missense_D901A,Silent,Silent,Missense_D620A,Missense_D222A,Silent,Missense_D222A,Silent exm774122 9 116346651 [A/G] NM_144488,NR_074077,NM_001276261,NM_130795,NM_001276260,NM_134427,NM_021106,NR_074078 RGS3,RGS3,RGS3,RGS3,RGS3,RGS3,RGS3,RGS3 EXON Missense_G987S,Silent,Silent,Missense_G706S,Missense_G308S,Silent,Missense_G308S,Silent exm774149 9 116356430 [T/G] NM_144488,NR_074077,NM_001276261,NM_130795,NM_001276260,NM_134427,NM_021106,NR_074078,NM_144489 RGS3,RGS3,RGS3,RGS3,RGS3,RGS3,RGS3,RGS3,RGS3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_Q77H exm774153 9 116356458 [A/G] NM_144488,NR_074077,NM_001276261,NM_130795,NM_001276260,NM_134427,NM_021106,NR_074078,NM_144489,NM_001276262 RGS3,RGS3,RGS3,RGS3,RGS3,RGS3,RGS3,RGS3,RGS3,RGS3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_V87I,Silent exm774155 9 116356467 [T/C] NM_144488,NR_074077,NM_001276261,NM_130795,NM_001276260,NM_134427,NM_021106,NR_074078,NM_144489,NM_001276262 RGS3,RGS3,RGS3,RGS3,RGS3,RGS3,RGS3,RGS3,RGS3,RGS3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_R90C,Silent exm774163 9 116356549 [G/C] NM_144488,NR_074077,NM_001276261,NM_130795,NM_001276260,NM_134427,NM_021106,NR_074078,NM_144489,NM_001276262 RGS3,RGS3,RGS3,RGS3,RGS3,RGS3,RGS3,RGS3,RGS3,RGS3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_P117R,Silent exm774164 9 116356560 [A/C] NM_144488,NR_074077,NM_001276261,NM_130795,NM_001276260,NM_134427,NM_021106,NR_074078,NM_144489,NM_001276262 RGS3,RGS3,RGS3,RGS3,RGS3,RGS3,RGS3,RGS3,RGS3,RGS3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_L121I,Silent exm774175 9 116357251 [G/C] NM_144488,NR_074077,NM_001276261,NM_130795,NM_001276260,NM_134427,NM_021106,NR_074078,NM_144489,NM_001276262 RGS3,RGS3,RGS3,RGS3,RGS3,RGS3,RGS3,RGS3,RGS3,RGS3 EXON Missense_V1079L,Silent,Missense_V472L,Missense_V798L,Missense_V400L,Missense_V49L,Missense_V400L,Silent,Missense_V192L,Missense_V49L exm2181666 9 116357998 [T/G] NM_144488,NR_074077,NM_001276261,NM_130795,NM_001276260,NM_134427,NM_021106,NR_074078,NM_144489,NM_001276262 RGS3,RGS3,RGS3,RGS3,RGS3,RGS3,RGS3,RGS3,RGS3,RGS3 EXON Missense_A1122S,Silent,Missense_A515S,Missense_A841S,Missense_A443S,Missense_A92S,Missense_A443S,Silent,Missense_A235S,Missense_A92S exm774181 9 116358026 [T/C] NM_144488,NR_074077,NM_001276261,NM_130795,NM_001276260,NM_134427,NM_021106,NR_074078,NM_144489,NM_001276262 RGS3,RGS3,RGS3,RGS3,RGS3,RGS3,RGS3,RGS3,RGS3,RGS3 EXON Missense_A1131V,Silent,Missense_A524V,Missense_A850V,Missense_A452V,Missense_A101V,Missense_A452V,Silent,Missense_A244V,Missense_A101V exm774182 9 116359048 [A/G] NM_144488,NR_074077,NM_001276261,NM_130795,NM_001276260,NM_134427,NM_021106,NR_074078,NM_144489,NM_001276262 RGS3,RGS3,RGS3,RGS3,RGS3,RGS3,RGS3,RGS3,RGS3,RGS3 EXON Missense_V1138I,Silent,Missense_V531I,Missense_V857I,Missense_V459I,Missense_V108I,Missense_V459I,Silent,Missense_V251I,Missense_V108I exm774185 9 116359085 [A/G] NM_144488,NR_074077,NM_001276261,NM_130795,NM_001276260,NM_134427,NM_021106,NR_074078,NM_144489,NM_001276262 RGS3,RGS3,RGS3,RGS3,RGS3,RGS3,RGS3,RGS3,RGS3,RGS3 EXON Missense_D1150G,Silent,Missense_D543G,Missense_D869G,Missense_D471G,Missense_D120G,Missense_D471G,Silent,Missense_D263G,Missense_D120G exm774188 9 116359099 [A/G] NM_144488,NR_074077,NM_001276261,NM_130795,NM_001276260,NM_134427,NM_021106,NR_074078,NM_144489,NM_001276262 RGS3,RGS3,RGS3,RGS3,RGS3,RGS3,RGS3,RGS3,RGS3,RGS3 EXON Missense_V1155I,Silent,Missense_V548I,Missense_V874I,Missense_V476I,Missense_V125I,Missense_V476I,Silent,Missense_V268I,Missense_V125I exm774190 9 116359106 [T/G] NM_144488,NR_074077,NM_001276261,NM_130795,NM_001276260,NM_134427,NM_021106,NR_074078,NM_144489,NM_001276262 RGS3,RGS3,RGS3,RGS3,RGS3,RGS3,RGS3,RGS3,RGS3,RGS3 EXON Missense_R1157L,Silent,Missense_R550L,Missense_R876L,Missense_R478L,Missense_R127L,Missense_R478L,Silent,Missense_R270L,Missense_R127L exm774191 9 116359177 [T/C] NM_144488,NR_074077,NM_001276261,NM_130795,NM_001276260,NM_134427,NM_021106,NR_074078,NM_144489,NM_001276262 RGS3,RGS3,RGS3,RGS3,RGS3,RGS3,RGS3,RGS3,RGS3,RGS3 EXON Missense_R1181C,Silent,Missense_R574C,Missense_R900C,Missense_R502C,Missense_R151C,Missense_R502C,Silent,Missense_R294C,Missense_R151C exm774192 9 116359178 [A/G] NM_144488,NR_074077,NM_001276261,NM_130795,NM_001276260,NM_134427,NM_021106,NR_074078,NM_144489,NM_001276262 RGS3,RGS3,RGS3,RGS3,RGS3,RGS3,RGS3,RGS3,RGS3,RGS3 EXON Missense_R1181H,Silent,Missense_R574H,Missense_R900H,Missense_R502H,Missense_R151H,Missense_R502H,Silent,Missense_R294H,Missense_R151H exm2271217 9 116420246 [T/C] exm-rs10981899 9 116478405 [T/G] exm2259106 9 116535410 [T/C] exm774214 9 116750780 [T/C] NM_133374 ZNF618 EXON Missense_A86V exm774216 9 116750806 [A/G] NM_133374 ZNF618 EXON Missense_V95M exm2259107 9 116810204 [A/G] NM_133374 ZNF618 EXON Synonymous_Q333Q exm774281 9 116811339 [T/C] NM_133374 ZNF618 EXON Missense_A493V exm774312 9 116811914 [A/G] NM_133374 ZNF618 EXON Missense_A685T exm2259108 9 116811982 [A/G] NM_133374 ZNF618 EXON Synonymous_P707P exm774323 9 116812124 [T/C] NM_133374 ZNF618 EXON Missense_P755S exm774335 9 116812370 [T/C] NM_133374 ZNF618 EXON Missense_L837F exm774337 9 116812388 [T/C] NM_133374 ZNF618 EXON Missense_R843W exm774356 9 116823377 [T/C] NM_001633 AMBP EXON Synonymous_A285A exm774366 9 116823802 [T/G] NM_001633 AMBP EXON Missense_T252K exm774371 9 116823859 [A/G] NM_001633 AMBP EXON Missense_L233P exm774375 9 116825031 [T/C] NM_001633 AMBP EXON Missense_R204Q exm774380 9 116831979 [T/C] NM_001633 AMBP EXON Synonymous_P201P exm774382 9 116831989 [A/G] NM_001633 AMBP EXON Missense_I198T exm774384 9 116832007 [T/C] NM_001633 AMBP EXON Missense_E192G exm774395 9 116835297 [A/G] NM_001633 AMBP EXON Missense_P155L exm774398 9 116836317 [A/G] NM_001633 AMBP EXON Synonymous_Y151Y exm774405 9 116836386 [A/C] NM_001633 AMBP EXON Missense_D128E exm774408 9 116836408 [T/C] NM_001633 AMBP EXON Missense_Y121C exm774411 9 116837308 [A/T] NM_001633 AMBP EXON Missense_V90D exm774421 9 116840419 [A/G] NM_001633 AMBP EXON Missense_T24M exm774424 9 116840477 [T/C] NM_001633 AMBP EXON Missense_G5R exm774438 9 116854714 [C/G] NM_138424 KIF12 EXON Missense_T434S exm774443 9 116855544 [A/C] NM_138424 KIF12 EXON Missense_W383G exm774449 9 116855776 [A/G] NM_138424 KIF12 EXON Missense_R330C exm774461 9 116856481 [A/C] NM_138424 KIF12 EXON Missense_M293I exm774468 9 116856644 [A/G] NM_138424 KIF12 EXON Missense_M266T exm774472 9 116857304 [T/C] NM_138424 KIF12 EXON Missense_K235R exm774488 9 116857573 [T/C] NM_138424 KIF12 EXON Missense_Q174R exm2181790 9 116929987 [A/G] NM_032888 COL27A1 EXON Missense_R51Q exm774525 9 116930013 [A/G] NM_032888 COL27A1 EXON Missense_G60R exm774531 9 116930100 [A/G] NM_032888 COL27A1 EXON Missense_V89I exm774537 9 116930157 [T/C] NM_032888 COL27A1 EXON Missense_R108W exm774538 9 116930194 [A/G] NM_032888 COL27A1 EXON Missense_Q120R exm774540 9 116930205 [G/C] NM_032888 COL27A1 EXON Missense_L124V exm774542 9 116930232 [A/G] NM_032888 COL27A1 EXON Missense_G133S exm774563 9 116930454 [A/G] NM_032888 COL27A1 EXON Missense_V207I exm774570 9 116930557 [T/C] NM_032888 COL27A1 EXON Missense_T241M exm774571 9 116930574 [A/G] NM_032888 COL27A1 EXON Missense_G247R exm774574 9 116930620 [A/C] NM_032888 COL27A1 EXON Missense_S262Y exm774577 9 116930628 [A/G] NM_032888 COL27A1 EXON Missense_A265T exm774579 9 116930650 [T/C] NM_032888 COL27A1 EXON Missense_L272S exm774585 9 116930728 [T/C] NM_032888 COL27A1 EXON Missense_T298I exm774590 9 116930782 [A/G] NM_032888 COL27A1 EXON Missense_G316D exm774594 9 116930880 [T/C] NM_032888 COL27A1 EXON Missense_R349C exm774595 9 116930887 [T/C] NM_032888 COL27A1 EXON Missense_A351V exm2181800 9 116930998 [T/C] NM_032888 COL27A1 EXON Missense_T388I exm774606 9 116931099 [A/G] NM_032888 COL27A1 EXON Missense_A422T exm774630 9 116931437 [C/G] NM_032888 COL27A1 EXON Missense_K534N exm774631 9 116931445 [T/C] NM_032888 COL27A1 EXON Missense_I537T exm774637 9 116931490 [A/G] NM_032888 COL27A1 EXON Missense_R552Q exm774640 9 116931562 [C/G] NM_032888 COL27A1 EXON Missense_S576T exm774645 9 116931664 [T/C] NM_032888 COL27A1 EXON Missense_S610L exm774646 9 116931666 [T/A] NM_032888 COL27A1 EXON Missense_I611F exm774649 9 116931688 [T/C] NM_032888 COL27A1 EXON Missense_T618M exm774672 9 116958266 [A/G] NM_032888 COL27A1 EXON Missense_G700R exm774674 9 116958281 [T/C] NM_032888 COL27A1 EXON Missense_P705S exm774676 9 116958288 [A/G] NM_032888 COL27A1 EXON Missense_R707Q exm774681 9 116967416 [C/G] NM_032888 COL27A1 EXON Missense_P720R exm774697 9 116971961 [A/C] NM_032888 COL27A1 EXON Missense_I759L exm2181832 9 116994117 [A/G] NM_032888 COL27A1 EXON Missense_V846M exm774723 9 116997878 [C/G] NM_032888 COL27A1 Silent exm774728 9 116999295 [A/G] NM_032888 COL27A1 EXON Missense_R885Q exm2181843 9 117002747 [T/C] NM_032888 COL27A1 EXON Missense_R939C exm774741 9 117004489 [T/C] NM_032888 COL27A1 EXON Missense_P953L exm774756 9 117012903 [A/G] NM_032888 COL27A1 EXON Missense_M996I exm774759 9 117012937 [A/G] NM_032888 COL27A1 EXON Missense_V1008M exm774765 9 117015163 [A/G] NM_032888 COL27A1 EXON Missense_H1031R exm774772 9 117026648 [T/C] NM_032888 COL27A1 EXON Missense_P1070L exm774778 9 117027235 [A/G] NM_032888 COL27A1 EXON Missense_R1094Q exm774784 9 117027709 [A/C] NM_032888 COL27A1 EXON Missense_P1116Q exm774788 9 117027755 [A/G] NM_032888 COL27A1 EXON Synonymous_P1131P exm2274373 9 117029809 [T/C] NM_032888 COL27A1 EXON Missense_P1158L exm774794 9 117031543 [A/C] NM_032888 COL27A1 EXON Missense_T1175N exm774795 9 117031554 [G/C] NM_032888 COL27A1 EXON Missense_Q1179E exm774807 9 117038046 [T/C] NM_032888 COL27A1 EXON Missense_R1239W exm774812 9 117044596 [T/C] NM_032888 COL27A1 EXON Missense_R1253C exm774822 9 117044843 [T/C] NM_032888 COL27A1 EXON Missense_T1293M exm774833 9 117050790 [A/G] NM_032888 COL27A1 EXON Missense_R1348Q exm774834 9 117050996 [T/G] NM_032888 COL27A1 EXON Missense_D1353E exm774835 9 117050998 [A/G] NM_032888 COL27A1 EXON Missense_R1354Q exm774836 9 117051003 [C/G] NM_032888 COL27A1 EXON Missense_D1356H exm774838 9 117051015 [A/C] NM_032888 COL27A1 EXON Missense_P1360T exm774868 9 117053162 [A/G] NM_032888 COL27A1 EXON Missense_G1481S exm774872 9 117054489 [T/C] NM_032888 COL27A1 EXON Missense_P1528L exm774890 9 117063391 [A/C] NM_032888 COL27A1 EXON Missense_P1581T exm774892 9 117063405 [A/G] NM_032888 COL27A1 EXON Synonymous_P1585P exm774896 9 117063588 [T/C] NM_032888 COL27A1 EXON Missense_R1594C exm774914 9 117066919 [T/C] NM_032888 COL27A1 EXON Missense_T1635M exm774920 9 117068825 [T/G] NM_032888 COL27A1 EXON Missense_V1655G exm774923 9 117068828 [T/C] NM_032888 COL27A1 EXON Missense_L1656P exm774930 9 117068924 [A/G] NM_032888 COL27A1 EXON Missense_R1688Q exm774938 9 117070018 [A/G] NM_032888 COL27A1 EXON Missense_H1726R exm2181936 9 117070038 [A/G] NM_032888 COL27A1 EXON Missense_K1733E exm774942 9 117071615 [A/C] NM_032888 COL27A1 EXON Missense_I1765L exm774946 9 117071688 [A/G] NM_032888 COL27A1 EXON Missense_R1789Q exm774978 9 117086356 [A/G] NM_000607 ORM1 EXON Missense_I106V exm774979 9 117086367 [T/C] NM_000607 ORM1 EXON Synonymous_Y109Y exm774990 9 117087171 [T/G] NM_000607 ORM1 EXON Missense_V144F exm775019 9 117093110 [T/C] NM_000608 ORM2 EXON Missense_V99A exm775024 9 117093142 [A/G] NM_000608 ORM2 EXON Missense_E110K exm2181986 9 117093856 [A/G] NM_000608 ORM2 EXON Missense_R113Q exm775027 9 117093861 [G/C] NM_000608 ORM2 EXON Missense_H115D exm775030 9 117093907 [T/G] NM_000608 ORM2 EXON Missense_F130C exm775032 9 117093939 [C/G] NM_000608 ORM2 EXON Missense_G141R exm775035 9 117093948 [T/G] NM_000608 ORM2 EXON Missense_F144V exm2259109 9 117094149 [T/C] NM_000608 ORM2 EXON Synonymous_Y160Y exm775058 9 117099420 [T/C] NM_030767 AKNA EXON Missense_V1412I exm775077 9 117103838 [T/C] NM_030767 AKNA EXON Missense_I1348V exm775079 9 117103846 [A/G] NM_030767 AKNA EXON Missense_S1345L exm775081 9 117103859 [A/C] NM_030767 AKNA EXON Missense_A1341S exm775085 9 117103900 [T/C] NM_030767 AKNA EXON Missense_Y1327C exm775094 9 117103973 [A/G] NM_030767 AKNA EXON Missense_S1303P exm775100 9 117105989 [T/C] NM_030767 AKNA EXON Synonymous_A1252A exm2262581 9 117106522 [A/G] NM_030767 AKNA Silent exm775115 9 117108220 [T/C] NM_030767 AKNA EXON Missense_Q1195R exm2182016 9 117108233 [T/C] NM_030767 AKNA EXON Missense_K1191E exm775117 9 117108289 [T/C] NM_030767 AKNA EXON Missense_S1172N exm775129 9 117110088 [T/C] NM_030767 AKNA EXON Missense_R1105H exm775133 9 117110115 [T/G] NM_030767 AKNA EXON Missense_H1096P exm775139 9 117110160 [T/C] NM_030767 AKNA EXON Missense_Q1081R exm775140 9 117110173 [T/C] NM_030767 AKNA EXON Missense_I1077V exm775141 9 117110180 [A/G] NM_030767 AKNA EXON Synonymous_D1074D exm775153 9 117113236 [T/C] NM_030767 AKNA EXON Missense_I1042V exm775163 9 117118379 [T/C] NM_030767 AKNA EXON Missense_V962M exm775166 9 117119165 [T/C] NM_030767 AKNA EXON Missense_E942K exm775169 9 117119242 [A/C] NM_030767 AKNA EXON Missense_W916L exm775193 9 117121881 [A/G] NM_030767 AKNA EXON Missense_P829S exm775205 9 117122219 [T/C] NM_030767 AKNA EXON Missense_K750E exm775210 9 117122311 [A/C] NM_030767 AKNA EXON Missense_G719V exm775212 9 117122324 [T/C] NM_030767 AKNA EXON Missense_A715T exm775213 9 117124019 [A/C] NM_030767 AKNA EXON Missense_A697S exm775215 9 117124045 [A/G] NM_030767 AKNA EXON Missense_T688M exm775219 9 117124100 [T/C] NM_030767 AKNA EXON Missense_G670R exm775226 9 117124123 [A/G] NM_030767 AKNA EXON Missense_T662I exm2182043 9 117124154 [C/G] NM_030767 AKNA EXON Missense_L652V exm775229 9 117124169 [A/G] NM_030767 AKNA EXON Missense_R647C exm775233 9 117124731 [A/G] NM_030767 AKNA EXON Missense_P624L exm775235 9 117124785 [A/G] NM_030767 AKNA EXON Missense_A606V exm775240 9 117124804 [A/G] NM_030767 AKNA EXON Missense_R600W exm775242 9 117129894 [T/C] NM_030767 AKNA EXON Missense_I553V exm775256 9 117130776 [A/G] NM_030767 AKNA EXON Missense_R506C exm775258 9 117130838 [T/C] NM_030767 AKNA EXON Missense_S485N exm2182057 9 117138846 [T/G] NM_030767 AKNA EXON Missense_A414E exm775274 9 117139062 [A/G] NM_030767 AKNA EXON Missense_S342F exm775275 9 117139101 [A/C] NM_030767 AKNA EXON Missense_R329M exm775276 9 117139110 [T/C] NM_030767 AKNA EXON Missense_R326Q exm775278 9 117139137 [A/G] NM_030767 AKNA EXON Missense_P317L exm775283 9 117139186 [T/C] NM_030767 AKNA EXON Missense_K301E exm2182062 9 117139253 [A/C] NM_030767 AKNA EXON Missense_D278E exm775289 9 117139275 [T/C] NM_030767 AKNA EXON Missense_Q271R exm2259110 9 117139280 [T/C] NM_030767 AKNA EXON Synonymous_P269P exm775298 9 117139497 [A/G] NM_030767 AKNA EXON Missense_P197L exm775301 9 117139512 [A/G] NM_030767 AKNA EXON Missense_S192F exm775307 9 117139642 [G/C] NM_030767 AKNA EXON Missense_G149R exm775311 9 117139741 [A/G] NM_030767 AKNA EXON Missense_R116C exm2182067 9 117143341 [T/A] NM_030767 AKNA EXON Missense_E91D exm775316 9 117143382 [T/C] NM_030767 AKNA EXON Missense_D78N exm775328 9 117143588 [T/C] NM_030767 AKNA EXON Missense_R9H exm775329 9 117143589 [A/G] NM_030767 AKNA EXON Missense_R9C exm-rs2763196 9 117150951 [A/G] NM_030767 AKNA Silent exm775334 9 117165093 [T/C] NM_015404,NM_001083885,NM_001173425 DFNB31,DFNB31,DFNB31 EXON Missense_K889E,Missense_K506E,Missense_K888E exm2276063 9 117165114 [A/G] NM_015404,NM_001083885,NM_001173425 DFNB31,DFNB31,DFNB31 EXON Missense_R882C,Missense_R499C,Missense_R881C exm775340 9 117165172 [T/G] NM_015404,NM_001083885,NM_001173425 DFNB31,DFNB31,DFNB31 EXON Missense_H862Q,Missense_H479Q,Missense_H861Q exm2182074 9 117165502 [T/C] NM_015404,NM_001083885,NM_001173425 DFNB31,DFNB31,DFNB31 EXON Missense_I846V,Missense_I463V,Missense_I845V exm775351 9 117165600 [A/G] NM_015404,NM_001083885,NM_001173425 DFNB31,DFNB31,DFNB31 EXON Missense_T813M,Missense_T430M,Missense_T812M exm775352 9 117166177 [A/G] NM_015404,NM_001083885,NM_001173425 DFNB31,DFNB31,DFNB31 EXON Missense_P806L,Missense_P423L,Missense_P805L exm775355 9 117166206 [T/G] NM_015404,NM_001083885,NM_001173425 DFNB31,DFNB31,DFNB31 EXON Missense_N796K,Missense_N413K,Missense_N795K exm775356 9 117166210 [T/C] NM_015404,NM_001083885,NM_001173425 DFNB31,DFNB31,DFNB31 EXON Missense_R795Q,Missense_R412Q,Missense_R794Q exm775358 9 117166217 [C/G] NM_015404,NM_001083885,NM_001173425 DFNB31,DFNB31,DFNB31 EXON Missense_L793V,Missense_L410V,Missense_L792V exm775359 9 117166240 [A/G] NM_015404,NM_001083885,NM_001173425 DFNB31,DFNB31,DFNB31 EXON Missense_T785I,Missense_T402I,Missense_T784I exm775360 9 117166246 [A/G] NM_015404,NM_001083885,NM_001173425 DFNB31,DFNB31,DFNB31 EXON Missense_V783A,Missense_V400A,Missense_V782A exm775363 9 117166271 [T/C] NM_015404,NM_001083885,NM_001173425 DFNB31,DFNB31,DFNB31 EXON Missense_A775T,Missense_A392T,Missense_A774T exm775371 9 117166338 [G/C] NM_015404,NM_001083885,NM_001173425 DFNB31,DFNB31,DFNB31 EXON Missense_H752Q,Missense_H369Q,Missense_H751Q exm775390 9 117168839 [T/C] NM_015404,NM_001083885,NM_001173425 DFNB31,DFNB31,DFNB31 EXON Missense_G678S,Missense_G295S,Missense_G678S exm775391 9 117168844 [C/G] NM_015404,NM_001083885,NM_001173425 DFNB31,DFNB31,DFNB31 EXON Missense_P676R,Missense_P293R,Missense_P676R exm775400 9 117168928 [T/G] NM_015404,NM_001083885,NM_001173425 DFNB31,DFNB31,DFNB31 EXON Missense_S648Y,Missense_S265Y,Missense_S648Y exm775410 9 117169001 [A/G] NM_015404,NM_001083885,NM_001173425 DFNB31,DFNB31,DFNB31 EXON Missense_P624S,Missense_P241S,Missense_P624S exm775412 9 117169033 [A/G] NM_015404,NM_001083885,NM_001173425 DFNB31,DFNB31,DFNB31 EXON Missense_M613T,Missense_M230T,Missense_M613T exm775415 9 117170241 [C/G] NM_015404,NM_001083885,NM_001173425 DFNB31,DFNB31,DFNB31 EXON Missense_P562A,Missense_P179A,Missense_P562A exm775416 9 117170247 [T/C] NM_015404,NM_001083885,NM_001173425 DFNB31,DFNB31,DFNB31 EXON Missense_A560T,Missense_A177T,Missense_A560T exm775425 9 117185652 [T/C] NM_015404,NM_001083885,NM_001173425 DFNB31,DFNB31,DFNB31 EXON Missense_S523N,Missense_S140N,Missense_S523N exm775430 9 117185695 [C/G] NM_015404,NM_001083885,NM_001173425 DFNB31,DFNB31,DFNB31 EXON Missense_P509A,Missense_P126A,Missense_P509A exm2247448 9 117185729 [G/C] NM_015404,NM_001083885,NM_001173425 DFNB31,DFNB31,DFNB31 EXON Missense_R497S,Missense_R114S,Missense_R497S exm775437 9 117185766 [A/G] NM_015404,NM_001083885,NM_001173425 DFNB31,DFNB31,DFNB31 EXON Missense_P485L,Missense_P102L,Missense_P485L exm775441 9 117186649 [T/G] NM_015404,NM_001083885,NM_001173425 DFNB31,DFNB31,DFNB31 EXON Missense_M461L,Missense_M78L,Missense_M461L exm775447 9 117186678 [T/C] NM_015404,NM_001083885,NM_001173425 DFNB31,DFNB31,DFNB31 EXON Missense_G451D,Missense_G68D,Missense_G451D exm775448 9 117186681 [T/C] NM_015404,NM_001083885,NM_001173425 DFNB31,DFNB31,DFNB31 EXON Missense_R450H,Missense_R67H,Missense_R450H exm775452 9 117186699 [T/C] NM_015404,NM_001083885,NM_001173425 DFNB31,DFNB31,DFNB31 EXON Missense_Y444C,Missense_Y61C,Missense_Y444C exm775453 9 117186712 [T/C] NM_015404,NM_001083885,NM_001173425 DFNB31,DFNB31,DFNB31 EXON Missense_A440T,Missense_A57T,Missense_A440T exm775467 9 117188509 [T/G] NM_015404,NM_001083885,NM_001173425 DFNB31,DFNB31,DFNB31 EXON Missense_T383N,Silent,Missense_T383N exm775468 9 117188522 [A/G] NM_015404,NM_001083885,NM_001173425 DFNB31,DFNB31,DFNB31 EXON Missense_R379W,Silent,Missense_R379W exm775469 9 117188566 [T/C] NM_015404,NM_001083885,NM_001173425 DFNB31,DFNB31,DFNB31 EXON Missense_R364H,Silent,Missense_R364H exm775470 9 117188582 [T/C] NM_015404,NM_001083885,NM_001173425 DFNB31,DFNB31,DFNB31 EXON Missense_V359I,Silent,Missense_V359I exm775472 9 117188609 [A/G] NM_015404,NM_001083885,NM_001173425 DFNB31,DFNB31,DFNB31 EXON Missense_R350W,Silent,Missense_R350W exm775475 9 117188659 [T/C] NM_015404,NM_001083885,NM_001173425 DFNB31,DFNB31,DFNB31 EXON Missense_S333N,Silent,Missense_S333N exm775476 9 117188662 [T/C] NM_015404,NM_001083885,NM_001173425 DFNB31,DFNB31,DFNB31 EXON Missense_R332Q,Silent,Missense_R332Q exm775490 9 117240906 [T/C] NM_015404,NM_001083885,NM_001173425 DFNB31,DFNB31,DFNB31 EXON Missense_G255D,Silent,Missense_G255D exm775491 9 117240927 [A/G] NM_015404,NM_001083885,NM_001173425 DFNB31,DFNB31,DFNB31 EXON Missense_S248L,Silent,Missense_S248L exm775495 9 117241002 [T/C] NM_015404,NM_001083885,NM_001173425 DFNB31,DFNB31,DFNB31 EXON Missense_R223H,Silent,Missense_R223H exm775496 9 117241003 [A/G] NM_015404,NM_001083885,NM_001173425 DFNB31,DFNB31,DFNB31 EXON Missense_R223C,Silent,Missense_R223C exm775507 9 117266742 [A/G] NM_015404,NM_001173425 DFNB31,DFNB31 EXON Missense_L114F,Missense_L114F exm775511 9 117266853 [A/T] NM_015404,NM_001173425 DFNB31,DFNB31 EXON Missense_T77S,Missense_T77S exm775515 9 117266891 [T/G] NM_015404,NM_001173425 DFNB31,DFNB31 EXON Missense_A64D,Missense_A64D exm775527 9 117350174 [T/C] NM_004888 ATP6V1G1 EXON Missense_A19V exm775531 9 117354865 [A/C] NM_004888 ATP6V1G1 EXON Missense_E39A exm775536 9 117359899 [A/G] NM_004888 ATP6V1G1 EXON Missense_Q78R exm775540 9 117359932 [A/G] NM_004888 ATP6V1G1 EXON Missense_R89Q exm775543 9 117359970 [T/C] NM_004888 ATP6V1G1 EXON Missense_F102L exm775553 9 117386662 [T/C] NM_153045 C9orf91 EXON Missense_R47W exm775557 9 117386699 [T/C] NM_153045 C9orf91 EXON Missense_L59P exm775566 9 117389267 [T/C] NM_153045 C9orf91 EXON Missense_M102T exm775573 9 117390529 [A/G] NM_153045 C9orf91 EXON Missense_K158R exm775577 9 117396120 [G/C] NM_153045 C9orf91 EXON Missense_V183L exm2182143 9 117400861 [T/C] NM_153045 C9orf91 EXON Missense_V235A exm775586 9 117400891 [T/C] NM_153045 C9orf91 EXON Missense_A245V exm775588 9 117400945 [G/C] NM_153045 C9orf91 EXON Missense_P263R exm775589 9 117400947 [A/G] NM_153045 C9orf91 EXON Missense_N264D exm775591 9 117400957 [T/C] NM_153045 C9orf91 EXON Missense_P267L exm775602 9 117428960 [T/C] NM_001199233 LOC100505478 EXON Missense_H109R exm775604 9 117430524 [A/G] NM_001199233 LOC100505478 EXON Missense_T74I exm775606 9 117430611 [T/A] NM_001199233 LOC100505478 EXON Missense_L45Q exm775611 9 117552809 [T/G] NM_001204344,NM_005118 TNFSF15,TNFSF15 EXON Missense_M168L,Missense_M227L exm-rs3810936 9 117552885 [T/C] NM_001204344,NM_005118 TNFSF15,TNFSF15 EXON Synonymous_V142V,Synonymous_V201V exm775622 9 117553158 [A/T] NM_001204344,NM_005118 TNFSF15,TNFSF15 EXON Missense_F51L,Missense_F110L exm775635 9 117554791 [T/C] NM_001204344,NM_005118 TNFSF15,TNFSF15 EXON Missense_R7H,Silent exm-rs6478108 9 117558703 [T/C] NM_005118 TNFSF15 Silent exm-rs4263839 9 117566440 [A/G] NM_005118 TNFSF15 Silent exm775663 9 117568192 [T/C] NM_005118 TNFSF15 EXON Missense_R34H exm775665 9 117568199 [T/C] NM_005118 TNFSF15 EXON Missense_S32G exm-rs6478109 9 117568766 [A/G] exm-rs2006996 9 117592638 [T/C] exm775672 9 117666357 [A/C] NM_001252290,NM_001244 TNFSF8,TNFSF8 EXON Silent,Missense_Y187D exm2271218 9 117691558 [T/C] NM_001252290,NM_001244 TNFSF8,TNFSF8 Silent,Silent exm775694 9 117692463 [T/A] NM_001252290,NM_001244 TNFSF8,TNFSF8 EXON Missense_L41M,Missense_L41M exm775699 9 117692531 [A/G] NM_001252290,NM_001244 TNFSF8,TNFSF8 EXON Missense_T18I,Missense_T18I exm2259112 9 117722283 [T/C] exm775708 9 117786253 [T/C] NM_002160 TNC EXON Missense_Q2165R exm775710 9 117786265 [T/C] NM_002160 TNC EXON Missense_N2161S exm775725 9 117788933 [T/C] NM_002160 TNC EXON Missense_E2071K exm775737 9 117792583 [G/C] NM_002160 TNC EXON Missense_E2008Q exm775744 9 117792684 [A/G] NM_002160 TNC EXON Missense_I1974T exm775746 9 117793846 [A/G] NM_002160 TNC EXON Missense_T1969I exm775748 9 117793942 [A/G] NM_002160 TNC EXON Missense_T1937I exm775753 9 117797539 [A/G] NM_002160 TNC EXON Missense_R1911W exm775767 9 117798505 [T/C] NM_002160 TNC EXON Missense_R1843H exm775772 9 117803261 [T/C] NM_002160 TNC EXON Missense_G1784D exm775773 9 117803271 [T/C] NM_002160 TNC EXON Missense_A1781T exm775780 9 117803337 [T/C] NM_002160 TNC EXON Missense_G1759R exm775789 9 117804572 [A/G] NM_002160 TNC EXON Missense_S1725L exm775792 9 117804618 [T/C] NM_002160 TNC EXON Missense_M1710V exm2182205 9 117808721 [T/C] NM_002160 TNC EXON Missense_R1698Q exm775798 9 117808785 [A/T] NM_002160 TNC EXON Missense_I1677L exm775802 9 117808924 [A/C] NM_002160 TNC EXON Missense_D1630E exm775815 9 117810706 [A/G] NM_002160 TNC EXON Missense_T1562M exm2259113 9 117819436 [T/C] NM_002160 TNC EXON Synonymous_T1525T exm775822 9 117819465 [A/G] NM_002160 TNC EXON Missense_R1516W exm775823 9 117819468 [T/C] NM_002160 TNC EXON Missense_I1515V exm775826 9 117819539 [T/C] NM_002160 TNC EXON Missense_R1491Q exm775830 9 117819645 [G/C] NM_002160 TNC EXON Missense_L1456V exm2182215 9 117819647 [T/C] NM_002160 TNC EXON Missense_N1455S exm775837 9 117822072 [T/C] NM_002160 TNC EXON Missense_V1415I exm775859 9 117825262 [T/C] NM_002160 TNC EXON Missense_T1323A exm775863 9 117825303 [T/C] NM_002160 TNC EXON Missense_R1309H exm775868 9 117825372 [A/G] NM_002160 TNC EXON Missense_F1286S exm775875 9 117826096 [T/G] NM_002160 TNC EXON Missense_L1247I exm775878 9 117826128 [T/C] NM_002160 TNC EXON Missense_R1236H exm775899 9 117827038 [T/G] NM_002160 TNC EXON Missense_S1125R exm775901 9 117827060 [T/C] NM_002160 TNC EXON Missense_R1118Q exm775902 9 117827061 [A/G] NM_002160 TNC EXON Missense_R1118W exm775908 9 117827127 [T/C] NM_002160 TNC EXON Missense_A1096T exm775913 9 117835899 [T/C] NM_002160 TNC EXON Missense_R1066H exm775918 9 117835933 [T/C] NM_002160 TNC EXON Missense_A1055T exm2182241 9 117838677 [A/G] NM_002160 TNC EXON Missense_T951I exm775933 9 117838696 [T/G] NM_002160 TNC EXON Missense_Q945K exm2247458 9 117838716 [A/G] NM_002160 TNC EXON Missense_V938A exm775940 9 117838836 [A/T] NM_002160 TNC EXON Missense_N898I exm775942 9 117840255 [A/C] NM_002160 TNC EXON Missense_S881A exm775943 9 117840276 [T/C] NM_002160 TNC EXON Missense_I874V exm775953 9 117840353 [A/G] NM_002160 TNC EXON Missense_T848I exm2274375 9 117840405 [T/C] NM_002160 TNC EXON Missense_D831N exm775963 9 117844081 [A/C] NM_002160 TNC EXON Missense_G792C exm775966 9 117844149 [T/C] NM_002160 TNC EXON Missense_R769Q exm775972 9 117845011 [T/C] NM_002160 TNC EXON Missense_D736G exm2271136 9 117845333 [T/G] NM_002160 TNC Silent exm2247461 9 117846499 [G/C] NM_002160 TNC EXON Missense_R707T exm775975 9 117846503 [T/C] NM_002160 TNC EXON Missense_A706T exm775982 9 117846580 [T/C] NM_002160 TNC EXON Missense_Q680R exm775990 9 117846676 [T/C] NM_002160 TNC EXON Missense_R648Q exm775991 9 117846677 [A/G] NM_002160 TNC EXON Missense_R648W exm776002 9 117848197 [T/C] NM_002160 TNC EXON Missense_V605I exm776006 9 117848272 [A/G] NM_002160 TNC EXON Missense_C580R exm776010 9 117848295 [T/C] NM_002160 TNC EXON Missense_R572H exm776013 9 117848368 [T/C] NM_002160 TNC EXON Missense_V548M exm776016 9 117848376 [A/C] NM_002160 TNC EXON Missense_G545V exm776019 9 117848392 [C/G] NM_002160 TNC EXON Missense_G540R exm776020 9 117848394 [T/C] NM_002160 TNC EXON Missense_Q539R exm776024 9 117848470 [T/C] NM_002160 TNC EXON Missense_G514R exm776029 9 117848502 [T/C] NM_002160 TNC EXON Missense_R503K exm776031 9 117848520 [T/C] NM_002160 TNC EXON Missense_R497Q exm776039 9 117848668 [C/G] NM_002160 TNC EXON Missense_R448G exm776042 9 117848688 [T/C] NM_002160 TNC EXON Missense_N441S exm776045 9 117848713 [T/C] NM_002160 TNC EXON Missense_D433N exm776048 9 117848731 [T/C] NM_002160 TNC EXON Missense_E427K exm776050 9 117848761 [A/G] NM_002160 TNC EXON Missense_R417C exm776062 9 117849045 [T/C] NM_002160 TNC EXON Missense_R322Q exm776064 9 117849060 [T/C] NM_002160 TNC EXON Missense_N317S exm776073 9 117849181 [T/C] NM_002160 TNC EXON Missense_D277N exm776075 9 117849229 [T/C] NM_002160 TNC EXON Missense_G261S exm776078 9 117849280 [T/C] NM_002160 TNC EXON Missense_G244R exm776083 9 117849340 [T/C] NM_002160 TNC EXON Missense_D224N exm776085 9 117849373 [T/C] NM_002160 TNC EXON Missense_G213S exm776087 9 117849382 [T/C] NM_002160 TNC EXON Missense_G210S exm776089 9 117849385 [T/C] NM_002160 TNC EXON Missense_D209N exm776092 9 117849402 [A/C] NM_002160 TNC EXON Missense_G203V exm776093 9 117849420 [T/C] NM_002160 TNC EXON Missense_R197Q exm776096 9 117849499 [G/C] NM_002160 TNC EXON Missense_G171R exm2247463 9 117849502 [T/C] NM_002160 TNC EXON Missense_E170K exm776100 9 117852864 [A/C] NM_002160 TNC EXON Missense_G145V exm776104 9 117852973 [A/G] NM_002160 TNC EXON Missense_R109W exm776105 9 117852975 [T/C] NM_002160 TNC EXON Missense_R108H exm776121 9 117853183 [T/C] NM_002160 TNC EXON Missense_A39T exm776123 9 117853189 [T/C] NM_002160 TNC EXON Missense_V37M exm776126 9 117853200 [T/C] NM_002160 TNC EXON Missense_R33Q exm2182274 9 117853210 [A/G] NM_002160 TNC EXON Missense_R30W exm776130 9 117853237 [T/C] NM_002160 TNC EXON Missense_E21K exm-rs1000110 9 117908721 [T/C] NM_017418 DEC1 Silent exm-rs6478156 9 118024692 [T/G] NM_017418 DEC1 Silent exm2182281 9 118138995 [T/G] NM_017418 DEC1 Silent exm776143 9 118163563 [T/C] NM_017418 DEC1 EXON Missense_A60V exm776144 9 118163577 [C/G] NM_017418 DEC1 EXON Missense_A65P exm2266866 9 118567019 [A/G] exm2259115 9 118741214 [A/G] exm2262583 9 118869883 [T/C] exm776196 9 118949459 [T/C] NM_002581 PAPPA EXON Missense_S148P exm776198 9 118949480 [A/G] NM_002581 PAPPA EXON Missense_V155M exm776203 9 118949556 [A/G] NM_002581 PAPPA EXON Missense_R180Q exm776213 9 118949777 [A/G] NM_002581 PAPPA EXON Missense_E254K exm776221 9 118949856 [T/C] NM_002581 PAPPA EXON Missense_A280V exm776229 9 118950110 [A/C] NM_002581 PAPPA EXON Missense_H365N exm2182299 9 118950131 [T/C] NM_002581 PAPPA EXON Missense_R372C exm776233 9 118950134 [A/G] NM_002581 PAPPA EXON Missense_E373K exm776245 9 118950362 [A/G] NM_002581 PAPPA EXON Missense_V449M exm776267 9 118982329 [C/G] NM_002581 PAPPA EXON Missense_A678P exm776269 9 118982338 [A/G] NM_002581 PAPPA EXON Missense_V681I exm776270 9 118982353 [A/G] NM_002581 PAPPA EXON Missense_T686A exm776271 9 118982354 [T/C] NM_002581 PAPPA EXON Missense_T686M exm2182319 9 118997457 [A/G] NM_002581 PAPPA EXON Missense_R758H exm776283 9 118997493 [T/C] NM_002581 PAPPA EXON Missense_T770M exm776285 9 118997534 [A/G] NM_002581 PAPPA EXON Missense_E784K exm776294 9 118997720 [A/G] NM_002581 PAPPA EXON Missense_V846M exm776310 9 119028233 [A/C] NM_002581 PAPPA EXON Missense_S944R exm776325 9 119093635 [A/G] NM_002581 PAPPA EXON Missense_R1087Q exm776338 9 119097230 [A/G] NM_002581 PAPPA EXON Missense_R1163H exm776341 9 119106834 [C/G] NM_002581 PAPPA EXON Missense_F1208L exm776342 9 119106881 [A/C] NM_002581 PAPPA EXON Missense_S1224Y exm776344 9 119106905 [A/G] NM_002581 PAPPA EXON Missense_R1232H exm2182345 9 119106962 [A/G] NM_002581 PAPPA EXON Missense_R1251Q exm776351 9 119109317 [A/G] NM_002581 PAPPA EXON Missense_V1265I exm776352 9 119109467 [T/C] NM_002581 PAPPA EXON Missense_R1315C exm776353 9 119109468 [A/G] NM_002581 PAPPA EXON Missense_R1315H exm776355 9 119115071 [G/C] NM_002581 PAPPA EXON Missense_P1351A exm776363 9 119115167 [A/G] NM_002581 PAPPA EXON Missense_V1383M exm776364 9 119115182 [T/C] NM_002581 PAPPA EXON Missense_R1388W exm-rs751543 9 119122342 [T/C] NM_002581 PAPPA Silent exm776370 9 119124875 [T/C] NM_002581 PAPPA EXON Missense_L1451P exm776372 9 119124899 [A/G] NM_002581 PAPPA EXON Missense_R1459Q exm776373 9 119124959 [T/C] NM_002581 PAPPA EXON Missense_S1479L exm776380 9 119129965 [T/C] NM_002581 PAPPA EXON Missense_S1513P exm-rs7869550 9 119134796 [A/G] NM_002581 PAPPA Silent exm776390 9 119158847 [C/G] NM_002581 PAPPA EXON Missense_Q1612H exm776392 9 119158875 [T/C] NM_002581 PAPPA EXON Missense_R1622W exm776399 9 119188134 [T/C] NM_001184734,NM_198188,NM_014010,NM_198186,NM_198187 ASTN2,ASTN2,ASTN2,ASTN2,ASTN2 EXON Silent,Silent,Missense_R1288Q,Missense_R440Q,Missense_R391Q exm776405 9 119188224 [A/G] NM_001184734,NM_198188,NM_014010,NM_198186,NM_198187 ASTN2,ASTN2,ASTN2,ASTN2,ASTN2 EXON Missense_V361A,Missense_V361A,Missense_V1258A,Missense_V410A,Missense_V361A exm776409 9 119188284 [T/C] NM_001184734,NM_198188,NM_014010,NM_198186,NM_198187 ASTN2,ASTN2,ASTN2,ASTN2,ASTN2 EXON Missense_R341H,Missense_R341H,Missense_R1238H,Missense_R390H,Missense_R341H exm776410 9 119188287 [A/C] NM_001184734,NM_198188,NM_014010,NM_198186,NM_198187 ASTN2,ASTN2,ASTN2,ASTN2,ASTN2 EXON Missense_S340I,Missense_S340I,Missense_S1237I,Missense_S389I,Missense_S340I exm776423 9 119204738 [T/C] NM_001184734,NM_198188,NM_014010,NM_198186,NM_198187 ASTN2,ASTN2,ASTN2,ASTN2,ASTN2 EXON Missense_A250T,Missense_A250T,Missense_A1147T,Missense_A299T,Missense_A250T exm776424 9 119204756 [T/G] NM_001184734,NM_198188,NM_014010,NM_198186,NM_198187 ASTN2,ASTN2,ASTN2,ASTN2,ASTN2 EXON Missense_L244M,Missense_L244M,Missense_L1141M,Missense_L293M,Missense_L244M exm-rs10817896 9 119232655 [T/C] NM_001184734,NM_198188,NM_014010,NM_198186,NM_198187 ASTN2,ASTN2,ASTN2,ASTN2,ASTN2 Silent,Silent,Silent,Silent,Silent exm776435 9 119249687 [T/C] NM_001184734,NM_198188,NM_014010,NM_198186,NM_198187 ASTN2,ASTN2,ASTN2,ASTN2,ASTN2 EXON Missense_S202G,Missense_S202G,Missense_S1099G,Missense_S251G,Missense_S202G exm776436 9 119249690 [T/C] NM_001184734,NM_198188,NM_014010,NM_198186,NM_198187 ASTN2,ASTN2,ASTN2,ASTN2,ASTN2 EXON Missense_V201I,Missense_V201I,Missense_V1098I,Missense_V250I,Missense_V201I exm2182381 9 119249734 [A/G] NM_001184734,NM_198188,NM_014010,NM_198186,NM_198187 ASTN2,ASTN2,ASTN2,ASTN2,ASTN2 EXON Missense_T186I,Missense_T186I,Missense_T1083I,Missense_T235I,Missense_T186I exm776441 9 119249735 [T/G] NM_001184734,NM_198188,NM_014010,NM_198186,NM_198187 ASTN2,ASTN2,ASTN2,ASTN2,ASTN2 EXON Missense_T186P,Missense_T186P,Missense_T1083P,Missense_T235P,Missense_T186P exm-rs10983238 9 119333683 [G/C] NM_001184734,NM_198188,NM_014010,NM_198186,NM_198187 ASTN2,ASTN2,ASTN2,ASTN2,ASTN2 Silent,Silent,Silent,Silent,Silent exm2266868 9 119368245 [A/G] NM_001184734,NM_198188,NM_014010,NM_198186,NM_198187 ASTN2,ASTN2,ASTN2,ASTN2,ASTN2 Silent,Silent,Silent,Silent,Silent exm776451 9 119380732 [A/C] NM_001184734,NM_198188,NM_014010,NM_198186,NM_198187,NM_001184735 ASTN2,ASTN2,ASTN2,ASTN2,ASTN2,ASTN2 EXON Missense_V128L,Missense_V128L,Missense_V1025L,Missense_V177L,Missense_V128L,Missense_V128L exm2259118 9 119382639 [A/G] NM_001184734,NM_198188,NM_014010,NM_198186,NM_198187,NM_001184735 ASTN2,ASTN2,ASTN2,ASTN2,ASTN2,ASTN2 EXON Synonymous_S104S,Synonymous_S104S,Synonymous_S1001S,Synonymous_S153S,Synonymous_S104S,Synonymous_S104S exm776463 9 119413853 [T/C] NM_001184734,NM_198188,NM_014010,NM_198186,NM_198187,NM_001184735 ASTN2,ASTN2,ASTN2,ASTN2,ASTN2,ASTN2 EXON Missense_R61H,Missense_R61H,Missense_R958H,Missense_R110H,Missense_R61H,Missense_R61H exm776464 9 119413854 [T/G] NM_001184734,NM_198188,NM_014010,NM_198186,NM_198187,NM_001184735 ASTN2,ASTN2,ASTN2,ASTN2,ASTN2,ASTN2 EXON Missense_R61S,Missense_R61S,Missense_R958S,Missense_R110S,Missense_R61S,Missense_R61S exm776467 9 119413934 [T/C] NM_001184734,NM_198188,NM_014010,NM_198186,NM_198187,NM_001184735 ASTN2,ASTN2,ASTN2,ASTN2,ASTN2,ASTN2 EXON Missense_R34H,Missense_R34H,Missense_R931H,Missense_R83H,Missense_R34H,Missense_R34H exm776468 9 119413935 [A/G] NM_001184734,NM_198188,NM_014010,NM_198186,NM_198187,NM_001184735 ASTN2,ASTN2,ASTN2,ASTN2,ASTN2,ASTN2 EXON Missense_R34C,Missense_R34C,Missense_R931C,Missense_R83C,Missense_R34C,Missense_R34C exm776473 9 119413990 [T/C] NM_001184734,NM_198188,NM_014010,NM_198186,NM_198187,NM_001184735 ASTN2,ASTN2,ASTN2,ASTN2,ASTN2,ASTN2 EXON Missense_M15I,Missense_M15I,Missense_M912I,Missense_M64I,Missense_M15I,Missense_M15I exm776476 9 119448979 [T/C] NM_001184734,NM_198188,NM_014010,NM_198186,NM_198187,NM_001184735 ASTN2,ASTN2,ASTN2,ASTN2,ASTN2,ASTN2 EXON Silent,Silent,Silent,Missense_E36K,Silent,Silent exm2247468 9 119460148 [A/G] NM_014010,NM_001099679,NM_012210 ASTN2,TRIM32,TRIM32 EXON Silent,Missense_I43V,Missense_I43V exm776488 9 119460334 [T/C] NM_014010,NM_001099679,NM_012210 ASTN2,TRIM32,TRIM32 EXON Silent,Missense_R105W,Missense_R105W exm776493 9 119460425 [T/C] NM_014010,NM_001099679,NM_012210 ASTN2,TRIM32,TRIM32 EXON Silent,Missense_T135I,Missense_T135I exm776498 9 119460501 [A/G] NM_014010,NM_001099679,NM_012210 ASTN2,TRIM32,TRIM32 EXON Silent,Missense_M160I,Missense_M160I exm776499 9 119460542 [T/C] NM_014010,NM_001099679,NM_012210 ASTN2,TRIM32,TRIM32 EXON Silent,Missense_S174F,Missense_S174F exm776500 9 119460579 [C/G] NM_014010,NM_001099679,NM_012210 ASTN2,TRIM32,TRIM32 EXON Silent,Missense_Q186H,Missense_Q186H exm776501 9 119460709 [A/G] NM_014010,NM_001099679,NM_012210 ASTN2,TRIM32,TRIM32 EXON Silent,Missense_I230V,Missense_I230V exm2247469 9 119460791 [C/G] NM_014010,NM_001099679,NM_012210 ASTN2,TRIM32,TRIM32 EXON Silent,Missense_T257R,Missense_T257R exm776510 9 119461033 [A/G] NM_014010,NM_001099679,NM_012210 ASTN2,TRIM32,TRIM32 EXON Silent,Missense_A338T,Missense_A338T exm776518 9 119461219 [T/C] NM_014010,NM_001099679,NM_012210 ASTN2,TRIM32,TRIM32 EXON Silent,Missense_R400C,Missense_R400C exm776519 9 119461243 [T/C] NM_014010,NM_001099679,NM_012210 ASTN2,TRIM32,TRIM32 EXON Silent,Missense_R408C,Missense_R408C exm776557 9 119488187 [T/C] NM_014010 ASTN2 EXON Missense_R839Q exm776559 9 119491277 [T/C] NM_014010 ASTN2 EXON Missense_A823T exm776561 9 119491303 [T/C] NM_014010 ASTN2 EXON Missense_R814H exm2182412 9 119491365 [A/C] NM_014010 ASTN2 EXON Missense_R793S exm776574 9 119495750 [T/C] NM_014010 ASTN2 EXON Missense_I766V exm776575 9 119495755 [A/G] NM_014010 ASTN2 EXON Missense_L764S exm2259119 9 119513630 [A/G] NM_014010 ASTN2 Silent exm776578 9 119567935 [T/C] NM_014010 ASTN2 EXON Missense_G740D exm776579 9 119567956 [T/C] NM_014010 ASTN2 EXON Missense_R733Q exm776603 9 119625872 [A/G] NM_014010 ASTN2 EXON Missense_S626L exm776611 9 119625932 [T/C] NM_014010 ASTN2 EXON Missense_R606Q exm2182422 9 119737500 [G/C] NM_014010 ASTN2 EXON Missense_P575A exm776624 9 119738454 [T/A] NM_014010 ASTN2 EXON Missense_T513S exm2262584 9 119762707 [T/G] NM_014010 ASTN2 Silent exm776634 9 119770434 [A/C] NM_014010 ASTN2 EXON Missense_V459L exm776648 9 119858355 [A/G] NM_014010 ASTN2 EXON Missense_T364M exm-rs4838255 9 119926426 [A/T] NM_014010 ASTN2 Silent exm2182443 9 119976780 [A/T] NM_014010 ASTN2 EXON Missense_D291V exm776676 9 119976864 [T/C] NM_014010 ASTN2 EXON Missense_Q263R exm776677 9 119976883 [T/A] NM_014010 ASTN2 EXON Missense_S257T exm2259120 9 120053674 [A/G] NM_014010 ASTN2 EXON Synonymous_T187T exm776703 9 120053774 [A/G] NM_014010 ASTN2 EXON Missense_A154V exm2259121 9 120137758 [T/C] NM_014010 ASTN2 Silent exm776709 9 120176829 [A/G] NM_014010 ASTN2 EXON Missense_R130C exm776725 9 120466796 [T/G] NM_138554,NM_003266,NM_138557 TLR4,TLR4,TLR4 EXON Missense_A16S,Silent,Silent exm776735 9 120470966 [G/C] NM_138554,NM_003266,NM_138557 TLR4,TLR4,TLR4 EXON Missense_S73R,Missense_S33R,Silent exm776738 9 120474678 [A/G] NM_138554,NM_003266,NM_138557 TLR4,TLR4,TLR4 EXON Missense_Q91R,Missense_Q51R,Silent exm776749 9 120474891 [T/C] NM_138554,NM_003266,NM_138557 TLR4,TLR4,TLR4 EXON Missense_I162T,Missense_I122T,Silent exm776751 9 120474929 [A/G] NM_138554,NM_003266,NM_138557 TLR4,TLR4,TLR4 EXON Missense_T175A,Missense_T135A,Silent exm776754 9 120474969 [A/G] NM_138554,NM_003266,NM_138557 TLR4,TLR4,TLR4 EXON Missense_Q188R,Missense_Q148R,Silent exm776762 9 120475248 [A/G] NM_138554,NM_003266,NM_138557 TLR4,TLR4,TLR4 EXON Missense_C281Y,Missense_C241Y,Missense_C81Y exm776766 9 120475302 [A/G] NM_138554,NM_003266,NM_138557 TLR4,TLR4,TLR4 EXON Missense_D299G,Missense_D259G,Missense_D99G exm776774 9 120475431 [A/T] NM_138554,NM_003266,NM_138557 TLR4,TLR4,TLR4 EXON Missense_F342Y,Missense_F302Y,Missense_F142Y exm776781 9 120475561 [T/G] NM_138554,NM_003266,NM_138557 TLR4,TLR4,TLR4 EXON Missense_L385F,Missense_L345F,Missense_L185F exm776782 9 120475602 [T/C] NM_138554,NM_003266,NM_138557 TLR4,TLR4,TLR4 EXON Missense_T399I,Missense_T359I,Missense_T199I exm776788 9 120475719 [A/G] NM_138554,NM_003266,NM_138557 TLR4,TLR4,TLR4 EXON Missense_S438N,Missense_S398N,Missense_S238N exm776791 9 120475759 [A/C] NM_138554,NM_003266,NM_138557 TLR4,TLR4,TLR4 EXON Nonsense_Y451X,Nonsense_Y411X,Nonsense_Y251X exm776793 9 120475826 [A/G] NM_138554,NM_003266,NM_138557 TLR4,TLR4,TLR4 EXON Missense_E474K,Missense_E434K,Missense_E274K exm776797 9 120475936 [T/G] NM_138554,NM_003266,NM_138557 TLR4,TLR4,TLR4 EXON Missense_Q510H,Missense_Q470H,Missense_Q310H exm776806 9 120476185 [A/G] NM_138554,NM_003266,NM_138557 TLR4,TLR4,TLR4 EXON Nonsense_W593X,Nonsense_W553X,Nonsense_W393X exm776808 9 120476271 [A/G] NM_138554,NM_003266,NM_138557 TLR4,TLR4,TLR4 EXON Missense_S622N,Missense_S582N,Missense_S422N exm776817 9 120476382 [T/C] NM_138554,NM_003266,NM_138557 TLR4,TLR4,TLR4 EXON Missense_M659T,Missense_M619T,Missense_M459T exm776821 9 120476456 [T/G] NM_138554,NM_003266,NM_138557 TLR4,TLR4,TLR4 EXON Missense_D684Y,Missense_D644Y,Missense_D484Y exm776824 9 120476487 [A/G] NM_138554,NM_003266,NM_138557 TLR4,TLR4,TLR4 EXON Missense_K694R,Missense_K654R,Missense_K494R exm2274376 9 120476585 [T/G] NM_138554,NM_003266,NM_138557 TLR4,TLR4,TLR4 EXON Missense_F727V,Missense_F687V,Missense_F527V exm776830 9 120476694 [A/G] NM_138554,NM_003266,NM_138557 TLR4,TLR4,TLR4 EXON Missense_R763H,Missense_R723H,Missense_R563H exm776836 9 120476816 [T/C] NM_138554,NM_003266,NM_138557 TLR4,TLR4,TLR4 EXON Missense_R804W,Missense_R764W,Missense_R604W exm776837 9 120476817 [A/G] NM_138554,NM_003266,NM_138557 TLR4,TLR4,TLR4 EXON Missense_R804Q,Missense_R764Q,Missense_R604Q exm2247473 9 120476873 [A/C] NM_138554,NM_003266,NM_138557 TLR4,TLR4,TLR4 EXON Missense_P823T,Missense_P783T,Missense_P623T exm776841 9 120476906 [A/C] NM_138554,NM_003266,NM_138557 TLR4,TLR4,TLR4 EXON Missense_Q834K,Missense_Q794K,Missense_Q634K exm2271221 9 120490389 [T/C] exm2266870 9 120863442 [A/G] exm-rs2809393 9 120891637 [T/C] exm-rs876347 9 121031029 [A/G] exm2259123 9 121066417 [A/C] exm-rs1572299 9 121346417 [T/C] exm-rs11789399 9 121359286 [A/G] exm2266936 9 121729794 [A/G] exm2271138 9 121809519 [T/C] exm776844 9 121929412 [T/C] NM_014618 DBC1 EXON Missense_N746D exm776850 9 121929511 [T/C] NM_014618 DBC1 EXON Missense_G713R exm776856 9 121929598 [T/C] NM_014618 DBC1 EXON Missense_G684S exm776866 9 121929726 [A/G] NM_014618 DBC1 EXON Missense_S641L exm776876 9 121929789 [T/C] NM_014618 DBC1 EXON Missense_R620H exm776881 9 121929828 [T/C] NM_014618 DBC1 EXON Missense_R607Q exm776888 9 121930014 [A/G] NM_014618 DBC1 EXON Missense_S545F exm776913 9 121930416 [T/C] NM_014618 DBC1 EXON Missense_R411Q exm776914 9 121930417 [A/G] NM_014618 DBC1 EXON Missense_R411W exm776922 9 121971061 [C/G] NM_014618 DBC1 EXON Missense_R361G exm776923 9 121971069 [T/C] NM_014618 DBC1 EXON Missense_R358H exm776925 9 121971096 [A/G] NM_014618 DBC1 EXON Missense_T349M exm2247474 9 121971115 [T/G] NM_014618 DBC1 EXON Missense_K343Q exm776933 9 121976203 [T/G] NM_014618 DBC1 EXON Missense_N306H exm-rs10984447 9 121984553 [A/G] NM_014618 DBC1 Silent exm2182500 9 122004445 [A/C] NM_014618 DBC1 EXON Missense_K153N exm776951 9 122011288 [T/G] NM_014618 DBC1 EXON Missense_T120N exm776952 9 122011292 [T/C] NM_014618 DBC1 EXON Missense_D119N exm-rs4837628 9 122059709 [T/C] NM_014618 DBC1 Silent exm2271139 9 122289187 [T/G] exm2271140 9 122859248 [T/C] exm-rs16909449 9 122861297 [T/C] exm2266937 9 122899590 [A/G] exm-rs4837752 9 123056637 [A/G] exm2266871 9 123122187 [A/G] exm776982 9 123152042 [A/G] NR_073556,NR_073557,NM_001272039,NM_001011649,NM_018249,NR_073554,NR_073558,NR_073555 CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2 EXON Silent,Silent,Missense_R1638W,Missense_R1789W,Missense_R1868W,Silent,Silent,Silent exm776983 9 123152060 [T/C] NR_073556,NR_073557,NM_001272039,NM_001011649,NM_018249,NR_073554,NR_073558,NR_073555 CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2 EXON Silent,Silent,Missense_V1632I,Missense_V1783I,Missense_V1862I,Silent,Silent,Silent exm776989 9 123156790 [A/G] NR_073556,NR_073557,NM_001272039,NM_001011649,NM_018249,NR_073554,NR_073558,NR_073555 CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2 EXON Silent,Silent,Synonymous_L1630L,Synonymous_L1781L,Synonymous_L1860L,Silent,Silent,Silent exm776992 9 123156869 [A/C] NR_073556,NR_073557,NM_001272039,NM_001011649,NM_018249,NR_073554,NR_073558,NR_073555 CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2 EXON Silent,Silent,Missense_F1603L,Missense_F1754L,Missense_F1833L,Silent,Silent,Silent exm776994 9 123156914 [A/C] NR_073556,NR_073557,NM_001272039,NM_001011649,NM_018249,NR_073554,NR_073558,NR_073555 CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2 EXON Silent,Silent,Missense_I1588M,Missense_I1739M,Missense_I1818M,Silent,Silent,Silent exm777011 9 123165190 [T/C] NR_073556,NR_073557,NM_001272039,NM_001011649,NM_018249,NR_073554,NR_073558,NR_073555 CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2 EXON Silent,Silent,Missense_Y1504C,Missense_Y1655C,Missense_Y1734C,Silent,Silent,Silent exm777013 9 123165239 [C/G] NR_073556,NR_073557,NM_001272039,NM_001011649,NM_018249,NR_073554,NR_073558,NR_073555 CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2 EXON Silent,Silent,Missense_L1488V,Missense_L1639V,Missense_L1718V,Silent,Silent,Silent exm777025 9 123169308 [A/G] NR_073556,NR_073557,NM_001272039,NM_001011649,NM_018249,NR_073554,NR_073558,NR_073555 CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2 EXON Silent,Silent,Missense_L1419F,Silent,Missense_L1649F,Silent,Silent,Silent exm777032 9 123169415 [T/C] NR_073556,NR_073557,NM_001272039,NM_001011649,NM_018249,NR_073554,NR_073558,NR_073555 CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2 EXON Silent,Silent,Missense_S1383N,Silent,Missense_S1613N,Silent,Silent,Silent exm777033 9 123169430 [T/C] NR_073556,NR_073557,NM_001272039,NM_001011649,NM_018249,NR_073554,NR_073558,NR_073555 CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2 EXON Silent,Silent,Missense_S1378N,Silent,Missense_S1608N,Silent,Silent,Silent exm777036 9 123169520 [A/G] NR_073556,NR_073557,NM_001272039,NM_001011649,NM_018249,NR_073554,NR_073558,NR_073555 CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2 EXON Silent,Silent,Missense_S1348L,Silent,Missense_S1578L,Silent,Silent,Silent exm777037 9 123169523 [A/G] NR_073556,NR_073557,NM_001272039,NM_001011649,NM_018249,NR_073554,NR_073558,NR_073555 CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2 EXON Silent,Silent,Missense_A1347V,Silent,Missense_A1577V,Silent,Silent,Silent exm777041 9 123170686 [A/C] NR_073556,NR_073557,NM_001272039,NM_001011649,NM_018249,NR_073554,NR_073558,NR_073555 CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2 EXON Silent,Silent,Missense_Q1325H,Missense_Q1555H,Missense_Q1555H,Silent,Silent,Silent exm777043 9 123170725 [A/C] NR_073556,NR_073557,NM_001272039,NM_001011649,NM_018249,NR_073554,NR_073558,NR_073555 CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2 EXON Silent,Silent,Missense_L1312F,Missense_L1542F,Missense_L1542F,Silent,Silent,Silent exm777044 9 123170733 [C/G] NR_073556,NR_073557,NM_001272039,NM_001011649,NM_018249,NR_073554,NR_073558,NR_073555 CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2 EXON Silent,Silent,Missense_V1310L,Missense_V1540L,Missense_V1540L,Silent,Silent,Silent exm2247478 9 123171511 [T/C] NR_073556,NR_073557,NM_001272039,NM_001011649,NM_018249,NR_073554,NR_073558,NR_073555 CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2 EXON Silent,Silent,Missense_S1270G,Missense_S1500G,Missense_S1500G,Silent,Silent,Silent exm777056 9 123171581 [C/G] NR_073556,NR_073557,NM_001272039,NM_001011649,NM_018249,NR_073554,NR_073558,NR_073555 CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2 EXON Silent,Silent,Missense_E1246D,Missense_E1476D,Missense_E1476D,Silent,Silent,Silent exm777059 9 123173712 [A/T] NR_073556,NR_073557,NM_001272039,NM_001011649,NM_018249,NR_073554,NR_073558,NR_073555 CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2 EXON Silent,Silent,Missense_S1216R,Missense_S1446R,Missense_S1446R,Silent,Silent,Silent exm777065 9 123177357 [A/G] NR_073556,NR_073557,NM_001272039,NM_001011649,NM_018249,NR_073554,NR_073558,NR_073555 CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2 EXON Silent,Silent,Missense_R1190W,Missense_R1420W,Missense_R1420W,Silent,Silent,Silent exm777073 9 123182068 [T/C] NR_073556,NR_073557,NM_001272039,NM_001011649,NM_018249,NR_073554,NR_073558,NR_073555 CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2 EXON Silent,Silent,Missense_Q1162R,Missense_Q1392R,Missense_Q1392R,Silent,Silent,Silent exm777074 9 123182078 [A/T] NR_073556,NR_073557,NM_001272039,NM_001011649,NM_018249,NR_073554,NR_073558,NR_073555 CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2 EXON Silent,Silent,Missense_S1159C,Missense_S1389C,Missense_S1389C,Silent,Silent,Silent exm777108 9 123202025 [C/G] NR_073556,NR_073557,NM_001272039,NM_001011649,NM_018249,NR_073554,NR_073558,NR_073555 CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2 EXON Silent,Silent,Missense_G895A,Missense_G1125A,Missense_G1125A,Silent,Silent,Silent exm777116 9 123205912 [G/C] NR_073556,NR_073557,NM_001272039,NM_001011649,NM_018249,NR_073554,NR_073558,NR_073555 CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2 EXON Silent,Silent,Missense_R815T,Missense_R1045T,Missense_R1045T,Silent,Silent,Silent exm777119 9 123205981 [T/C] NR_073556,NR_073557,NM_001272039,NM_001011649,NM_018249,NR_073554,NR_073558,NR_073555 CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2 EXON Silent,Silent,Missense_G792E,Missense_G1022E,Missense_G1022E,Silent,Silent,Silent exm777122 9 123206012 [C/G] NR_073556,NR_073557,NM_001272039,NM_001011649,NM_018249,NR_073554,NR_073558,NR_073555 CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2 EXON Silent,Silent,Missense_P782A,Missense_P1012A,Missense_P1012A,Silent,Silent,Silent exm777131 9 123210259 [A/G] NR_073556,NR_073557,NM_001272039,NM_001011649,NM_018249,NR_073554,NR_073558,NR_073555 CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2 EXON Silent,Silent,Missense_T750I,Missense_T980I,Missense_T980I,Silent,Silent,Silent exm777133 9 123210313 [A/G] NR_073556,NR_073557,NM_001272039,NM_001011649,NM_018249,NR_073554,NR_073558,NR_073555 CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2 EXON Silent,Silent,Missense_T732M,Missense_T962M,Missense_T962M,Silent,Silent,Silent exm777134 9 123210346 [A/G] NR_073556,NR_073557,NM_001272039,NM_001011649,NM_018249,NR_073554,NR_073558,NR_073555 CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2 EXON Silent,Silent,Missense_M721T,Missense_M951T,Missense_M951T,Silent,Silent,Silent exm777140 9 123215872 [G/C] NR_073556,NR_073557,NM_001272039,NM_001011649,NM_018249,NR_073554,NR_073558,NR_073555 CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2 EXON Silent,Silent,Silent,Missense_F885L,Missense_F885L,Silent,Silent,Silent exm2182566 9 123220809 [C/G] NR_073556,NR_073557,NM_001272039,NM_001011649,NM_018249,NR_073554,NR_073558,NR_073555 CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2 EXON Silent,Silent,Silent,Missense_P765R,Missense_P765R,Silent,Silent,Silent exm777164 9 123220848 [A/G] NR_073556,NR_073557,NM_001272039,NM_001011649,NM_018249,NR_073554,NR_073558,NR_073555 CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2 EXON Silent,Silent,Silent,Missense_T752M,Missense_T752M,Silent,Silent,Silent exm777172 9 123230241 [T/C] NR_073556,NR_073557,NM_001272039,NM_001011649,NM_018249,NR_073554,NR_073558,NR_073555 CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2 EXON Silent,Silent,Missense_Y667C,Missense_Y668C,Missense_Y668C,Silent,Silent,Silent exm777174 9 123230272 [T/C] NR_073556,NR_073557,NM_001272039,NM_001011649,NM_018249,NR_073554,NR_073558,NR_073555 CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2 EXON Silent,Silent,Missense_S657G,Missense_S658G,Missense_S658G,Silent,Silent,Silent exm777188 9 123239643 [A/G] NR_073556,NR_073557,NM_001272039,NM_001011649,NM_018249,NR_073554,NR_073558,NR_073555 CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2 EXON Silent,Silent,Missense_L571P,Missense_L571P,Missense_L571P,Silent,Silent,Silent exm777190 9 123249648 [T/A] NR_073556,NR_073557,NM_001272039,NM_001011649,NM_018249,NR_073554,NR_073558,NR_073555 CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2 EXON Silent,Silent,Missense_E517V,Missense_E517V,Missense_E517V,Silent,Silent,Silent exm777205 9 123287277 [A/G] NR_073556,NR_073557,NM_001272039,NM_001011649,NM_018249,NR_073554,NR_073558,NR_073555 CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2 EXON Silent,Silent,Missense_T360I,Missense_T360I,Missense_T360I,Silent,Silent,Silent exm777206 9 123287284 [T/C] NR_073556,NR_073557,NM_001272039,NM_001011649,NM_018249,NR_073554,NR_073558,NR_073555 CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2 EXON Silent,Silent,Missense_A358T,Missense_A358T,Missense_A358T,Silent,Silent,Silent exm777212 9 123290160 [A/G] NR_073556,NR_073557,NM_001272039,NM_001011649,NM_018249,NR_073554,NR_073558,NR_073555 CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2 EXON Silent,Silent,Missense_T308I,Missense_T308I,Missense_T308I,Silent,Silent,Silent exm777220 9 123291036 [G/C] NR_073556,NR_073557,NM_001272039,NM_001011649,NM_018249,NR_073554,NR_073558,NR_073555 CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2 EXON Silent,Silent,Missense_E289Q,Missense_E289Q,Missense_E289Q,Silent,Silent,Silent exm777225 9 123292378 [T/C] NR_073556,NR_073557,NM_001272039,NM_001011649,NM_018249,NR_073554,NR_073558,NR_073555 CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2 EXON Silent,Silent,Missense_A235T,Missense_A235T,Missense_A235T,Silent,Silent,Silent exm777229 9 123298737 [T/C] NR_073556,NR_073557,NM_001272039,NM_001011649,NM_018249,NR_073554,NR_073558,NR_073555 CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2 EXON Silent,Silent,Missense_R192Q,Missense_R192Q,Missense_R192Q,Silent,Silent,Silent exm777240 9 123301414 [T/C] NR_073556,NR_073557,NM_001272039,NM_001011649,NM_018249,NR_073554,NR_073558,NR_073555 CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2 EXON Silent,Silent,Missense_G138S,Missense_G138S,Missense_G138S,Silent,Silent,Silent exm2247482 9 123334276 [G/C] NR_073556,NR_073557,NM_001272039,NM_001011649,NM_018249,NR_073554,NR_073558,NR_073555 CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2 EXON Silent,Silent,Missense_P35A,Missense_P35A,Missense_P35A,Silent,Silent,Silent exm777254 9 123342223 [C/G] NR_073556,NR_073557,NM_001272039,NM_001011649,NM_018249,NR_073554,NR_073558,NR_073555 CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2,CDK5RAP2 EXON Silent,Silent,Missense_V12L,Missense_V12L,Missense_V12L,Silent,Silent,Silent exm2266938 9 123349699 [A/G] exm777272 9 123367886 [A/T] NM_001080497 MEGF9 EXON Missense_I464N exm777281 9 123374727 [T/G] NM_001080497 MEGF9 EXON Missense_E345A exm777325 9 123476303 [A/C] NM_001080497 MEGF9 EXON Missense_S112A exm777354 9 123540630 [T/C] NM_012164 FBXW2 EXON Synonymous_A228A exm777371 9 123550410 [A/G] NM_012164 FBXW2 EXON Missense_H43Y exm777373 9 123550466 [T/C] NM_012164 FBXW2 EXON Missense_Q24R exm777380 9 123580260 [T/C] NM_001270427,NM_005047 PSMD5,PSMD5 EXON Missense_R437K,Missense_R480K exm777387 9 123583117 [T/C] NM_001270427,NM_005047 PSMD5,PSMD5 EXON Synonymous_T376T,Synonymous_T419T exm777400 9 123583689 [A/G] NM_001270427,NM_005047 PSMD5,PSMD5 EXON Missense_P311S,Missense_P354S exm777404 9 123586801 [A/G] NM_001270427,NM_005047 PSMD5,PSMD5 EXON Missense_V283A,Missense_V326A exm777407 9 123586903 [T/C] NM_001270427,NM_005047 PSMD5,PSMD5 EXON Missense_R249H,Missense_R292H exm777408 9 123586913 [T/G] NM_001270427,NM_005047 PSMD5,PSMD5 EXON Missense_I246L,Missense_I289L exm777413 9 123589109 [T/C] NM_001270427,NM_005047 PSMD5,PSMD5 EXON Missense_I207V,Missense_I250V exm777416 9 123589136 [A/G] NM_001270427,NM_005047 PSMD5,PSMD5 EXON Nonsense_R198X,Nonsense_R241X exm777423 9 123591419 [T/G] NM_001270427,NM_005047 PSMD5,PSMD5 EXON Missense_T167N,Missense_T210N exm2275237 9 123594111 [A/G] NM_001270427,NM_005047 PSMD5,PSMD5 EXON Missense_A144V,Missense_A144V exm777446 9 123605126 [T/C] NM_001270427,NM_005047 PSMD5,PSMD5 EXON Missense_E21G,Missense_E21G exm2259130 9 123620288 [T/A] NM_015651 PHF19 EXON Synonymous_A559A exm777456 9 123620430 [T/C] NM_015651 PHF19 EXON Missense_R512Q exm777460 9 123620470 [A/G] NM_015651 PHF19 EXON Missense_P499S exm777463 9 123620500 [A/G] NM_015651 PHF19 EXON Missense_R489W exm777466 9 123622390 [T/G] NM_015651 PHF19 EXON Missense_T460P exm777471 9 123624890 [T/C] NM_015651 PHF19 EXON Missense_R369H exm777483 9 123628017 [T/G] NM_015651 PHF19 EXON Missense_H291N exm2182687 9 123632050 [A/G] NM_015651,NM_001009936 PHF19,PHF19 EXON Silent,Nonsense_Q180X exm777506 9 123632127 [A/C] NM_015651,NM_001009936 PHF19,PHF19 EXON Missense_V154G,Missense_V154G exm777514 9 123632759 [A/G] NM_015651,NM_001009936 PHF19,PHF19 EXON Missense_P109L,Missense_P109L exm777519 9 123636311 [T/C] NM_015651,NM_001009936 PHF19,PHF19 EXON Missense_V72M,Missense_V72M exm777524 9 123637006 [C/G] NM_015651,NM_001009936 PHF19,PHF19 EXON Missense_A5G,Missense_A5G exm-rs881375 9 123652898 [T/C] exm777560 9 123673673 [T/C] NM_001190947,NM_005658,NM_001190945 TRAF1,TRAF1,TRAF1 EXON Missense_N153S,Missense_N275S,Missense_N275S exm777571 9 123675727 [T/C] NM_001190947,NM_005658,NM_001190945 TRAF1,TRAF1,TRAF1 EXON Missense_R73H,Missense_R195H,Missense_R195H exm777573 9 123675733 [T/C] NM_001190947,NM_005658,NM_001190945 TRAF1,TRAF1,TRAF1 EXON Missense_K71R,Missense_K193R,Missense_K193R exm777575 9 123675800 [T/C] NM_001190947,NM_005658,NM_001190945 TRAF1,TRAF1,TRAF1 EXON Missense_E49K,Missense_E171K,Missense_E171K exm777581 9 123675895 [A/G] NM_001190947,NM_005658,NM_001190945 TRAF1,TRAF1,TRAF1 EXON Missense_M17T,Missense_M139T,Missense_M139T exm777582 9 123675899 [A/G] NM_001190947,NM_005658,NM_001190945 TRAF1,TRAF1,TRAF1 EXON Missense_P16S,Missense_P138S,Missense_P138S exm777583 9 123675926 [A/G] NM_001190947,NM_005658,NM_001190945 TRAF1,TRAF1,TRAF1 EXON Missense_R7W,Missense_R129W,Missense_R129W exm777592 9 123685996 [T/C] NM_005658,NM_001190945 TRAF1,TRAF1 EXON Missense_R72Q,Missense_R72Q exm777596 9 123686038 [T/C] NM_005658,NM_001190945 TRAF1,TRAF1 EXON Missense_R58K,Missense_R58K exm777599 9 123688217 [A/G] NM_005658,NM_001190945 TRAF1,TRAF1 EXON Missense_P46L,Missense_P46L exm-rs3761847 9 123690239 [A/G] NM_001190945 TRAF1 Silent exm777621 9 123722537 [T/C] NM_001735 C5 EXON Missense_E1556G exm777641 9 123725916 [A/C] NM_001735 C5 EXON Missense_A1441S exm777642 9 123725926 [T/G] NM_001735 C5 EXON Missense_E1437D exm777663 9 123737203 [T/C] NM_001735 C5 EXON Missense_I1291V exm777666 9 123739072 [G/C] NM_001735 C5 EXON Missense_T1257S exm2182755 9 123742378 [T/C] NM_001735 C5 EXON Missense_R1214K exm777684 9 123744967 [T/C] NM_001735 C5 EXON Missense_K1119R exm777685 9 123745001 [T/C] NM_001735 C5 EXON Missense_V1108I exm777697 9 123751902 [A/G] NM_001735 C5 EXON Missense_I1033T exm777701 9 123751967 [G/C] NM_001735 C5 EXON Missense_E1011D exm777702 9 123751971 [A/G] NM_001735 C5 EXON Missense_A1010V exm777703 9 123753514 [A/C] NM_001735 C5 EXON Missense_D966Y exm2266872 9 123757412 [A/G] NM_001735 C5 Silent exm777711 9 123759832 [T/C] NM_001735 C5 EXON Missense_R928Q exm2247487 9 123760006 [G/C] NM_001735 C5 EXON Missense_S870T exm777723 9 123769200 [T/C] NM_001735 C5 EXON Missense_V802I exm777748 9 123779926 [C/G] NM_001735 C5 EXON Missense_L571V exm777762 9 123782342 [T/C] NM_001735 C5 EXON Missense_H473R exm2247489 9 123782408 [A/C] NM_001735 C5 EXON Missense_G451V exm777776 9 123785738 [T/G] NM_001735 C5 EXON Missense_L354M exm777777 9 123785740 [T/C] NM_001735 C5 EXON Missense_K353R exm777785 9 123787743 [A/G] NM_001735 C5 EXON Missense_I330T exm777787 9 123787840 [A/G] NM_001735 C5 EXON Nonsense_Q298X exm777794 9 123792679 [T/C] NM_001735 C5 EXON Missense_A252T exm2259132 9 123797092 [T/C] NM_001735 C5 EXON Synonymous_P191P exm777807 9 123805375 [T/G] NM_001735 C5 EXON Missense_H110N exm777811 9 123808469 [T/C] NM_001735 C5 EXON Synonymous_T86T exm777816 9 123812460 [A/G] NM_001735 C5 EXON Missense_T22I exm777821 9 123812513 [A/C] NM_001735 C5 EXON Missense_L4F exm777826 9 123850642 [A/C] NM_007018 CNTRL EXON Missense_A13E exm777828 9 123850719 [A/G] NM_007018 CNTRL EXON Missense_I39V exm777831 9 123850770 [A/G] NM_007018 CNTRL EXON Missense_V56I exm777835 9 123850816 [A/G] NM_007018 CNTRL EXON Missense_H71R exm777845 9 123858807 [A/G] NM_007018 CNTRL EXON Missense_R196Q exm777847 9 123860689 [T/C] NM_007018 CNTRL EXON Missense_P216L exm777850 9 123860749 [A/G] NM_007018 CNTRL EXON Missense_Y236C exm777854 9 123870224 [A/C] NM_007018 CNTRL EXON Missense_K318T exm777856 9 123870230 [A/G] NM_007018 CNTRL EXON Missense_S320N exm777859 9 123874764 [T/C] NM_007018 CNTRL EXON Nonsense_R344X exm777861 9 123874803 [A/G] NM_007018 CNTRL EXON Missense_A357T exm777865 9 123875855 [A/G] NM_007018 CNTRL EXON Missense_T400A exm777867 9 123875921 [G/C] NM_007018 CNTRL EXON Missense_L422V exm777875 9 123877372 [A/G] NM_007018 CNTRL EXON Missense_Q450R exm777884 9 123880694 [A/G] NM_007018 CNTRL EXON Missense_R509H exm777885 9 123880703 [T/C] NM_007018 CNTRL EXON Missense_A512V exm777889 9 123880790 [T/A] NM_007018 CNTRL EXON Missense_D541V exm777892 9 123886324 [T/C] NM_007018 CNTRL EXON Missense_T589M exm2182848 9 123898249 [A/G] NM_007018 CNTRL EXON Missense_R731G exm777903 9 123898259 [A/G] NM_007018 CNTRL EXON Missense_Q734R exm777911 9 123902979 [A/G] NM_007018 CNTRL EXON Missense_V800I exm777914 9 123903001 [A/G] NM_007018 CNTRL EXON Missense_E807G exm777915 9 123903015 [T/C] NM_007018 CNTRL EXON Missense_R812C exm777917 9 123903051 [A/G] NM_007018 CNTRL EXON Missense_T824A exm777919 9 123903657 [A/G] NM_007018 CNTRL Silent exm777928 9 123903840 [A/G] NM_007018 CNTRL EXON Missense_A889T exm777934 9 123904492 [A/G] NM_007018 CNTRL EXON Missense_E939K exm777938 9 123904538 [T/C] NM_007018 CNTRL EXON Missense_L954S exm777943 9 123906221 [A/G] NM_007018 CNTRL EXON Missense_G971D exm777948 9 123906352 [T/C] NM_007018 CNTRL EXON Nonsense_R1015X exm777952 9 123907181 [T/C] NM_007018 CNTRL EXON Nonsense_R1038X exm777953 9 123907522 [T/G] NM_007018 CNTRL EXON Missense_F1057V exm777954 9 123907526 [T/G] NM_007018 CNTRL EXON Missense_R1058L exm777968 9 123908511 [A/G] NM_007018 CNTRL EXON Missense_M1146V exm777969 9 123908523 [T/C] NM_007018 CNTRL EXON Missense_P1150S exm777971 9 123911019 [G/C] NM_007018 CNTRL EXON Missense_V1177L exm777985 9 123912576 [A/G] NM_007018 CNTRL EXON Missense_M1260V exm777988 9 123912613 [A/G] NM_007018 CNTRL EXON Missense_N1272S exm777999 9 123914765 [T/G] NM_007018 CNTRL EXON Missense_E1322D exm778001 9 123914847 [T/C] NM_007018 CNTRL EXON Missense_R1350W exm778010 9 123917010 [A/G] NM_007018 CNTRL EXON Missense_D1395G exm778012 9 123917045 [A/G] NM_007018 CNTRL EXON Missense_I1407V exm778017 9 123917145 [G/C] NM_007018 CNTRL EXON Missense_R1440P exm778040 9 123921275 [A/C] NM_007018 CNTRL EXON Missense_T1636N exm778045 9 123922514 [T/C] NM_007018 CNTRL EXON Nonsense_Q1675X exm778046 9 123922579 [T/C] NM_007018 CNTRL EXON Synonymous_T1696T exm778053 9 123924214 [T/G] NM_007018 CNTRL EXON Missense_S1724A exm778054 9 123924221 [T/G] NM_007018 CNTRL EXON Nonsense_L1726X exm778060 9 123924470 [A/G] NM_007018 CNTRL EXON Missense_V1782I exm2182896 9 123927222 [T/G] NM_007018 CNTRL EXON Missense_V1809F exm778070 9 123929783 [A/C] NM_007018 CNTRL EXON Missense_T1891N exm778074 9 123929893 [C/G] NM_007018 CNTRL EXON Missense_Q1928E exm778075 9 123929920 [A/G] NM_007018 CNTRL EXON Missense_E1937K exm778092 9 123932018 [A/G] NM_007018 CNTRL EXON Missense_K2067R exm778094 9 123932039 [A/C] NM_007018 CNTRL EXON Missense_A2074D exm778095 9 123932069 [A/G] NM_007018 CNTRL EXON Missense_R2084Q exm778102 9 123933793 [T/G] NM_007018 CNTRL EXON Missense_Q2128H exm778109 9 123935683 [A/G] NM_007018 CNTRL EXON Missense_E2194K exm778115 9 123935786 [T/C] NM_007018 CNTRL EXON Missense_M2228T exm778116 9 123935965 [T/C] NM_007018 CNTRL EXON Missense_R2233C exm778117 9 123935974 [A/G] NM_007018 CNTRL EXON Missense_A2236T exm778118 9 123935980 [T/C] NM_007018 CNTRL EXON Missense_R2238W exm778122 9 123937419 [T/A] NM_007018 CNTRL EXON Missense_T2291S exm778131 9 123943714 [A/G] NM_016322 RAB14 EXON Missense_T203I exm778164 9 124064268 [A/G] NM_001127665,NM_001127662,NM_001127664,NM_001127667,NM_001127663,NM_001127666,NM_198252,NM_001258029,NM_001258030,NM_000177 GSN,GSN,GSN,GSN,GSN,GSN,GSN,GSN,GSN,GSN EXON Missense_E7K,Missense_E7K,Missense_E7K,Missense_E18K,Missense_E43K,Missense_E18K,Missense_E7K,Missense_E24K,Missense_E15K,Missense_E58K exm2182936 9 124064324 [C/G] NM_001127665,NM_001127662,NM_001127664,NM_001127667,NM_001127663,NM_001127666,NM_198252,NM_001258029,NM_001258030,NM_000177 GSN,GSN,GSN,GSN,GSN,GSN,GSN,GSN,GSN,GSN EXON Missense_F25L,Missense_F25L,Missense_F25L,Missense_F36L,Missense_F61L,Missense_F36L,Missense_F25L,Missense_F42L,Missense_F33L,Missense_F76L exm778169 9 124064359 [A/C] NM_001127665,NM_001127662,NM_001127664,NM_001127667,NM_001127663,NM_001127666,NM_198252,NM_001258029,NM_001258030,NM_000177 GSN,GSN,GSN,GSN,GSN,GSN,GSN,GSN,GSN,GSN EXON Missense_D37A,Missense_D37A,Missense_D37A,Missense_D48A,Missense_D73A,Missense_D48A,Missense_D37A,Missense_D54A,Missense_D45A,Missense_D88A exm778184 9 124065219 [T/C] NM_001127665,NM_001127662,NM_001127664,NM_001127667,NM_001127663,NM_001127666,NM_198252,NM_001258029,NM_001258030,NM_000177 GSN,GSN,GSN,GSN,GSN,GSN,GSN,GSN,GSN,GSN EXON Missense_A76V,Missense_A76V,Missense_A76V,Missense_A87V,Missense_A112V,Missense_A87V,Missense_A76V,Missense_A93V,Missense_A84V,Missense_A127V exm778185 9 124065224 [A/G] NM_001127665,NM_001127662,NM_001127664,NM_001127667,NM_001127663,NM_001127666,NM_198252,NM_001258029,NM_001258030,NM_000177 GSN,GSN,GSN,GSN,GSN,GSN,GSN,GSN,GSN,GSN EXON Missense_A78T,Missense_A78T,Missense_A78T,Missense_A89T,Missense_A114T,Missense_A89T,Missense_A78T,Missense_A95T,Missense_A86T,Missense_A129T exm778188 9 124065263 [T/C] NM_001127665,NM_001127662,NM_001127664,NM_001127667,NM_001127663,NM_001127666,NM_198252,NM_001258029,NM_001258030,NM_000177 GSN,GSN,GSN,GSN,GSN,GSN,GSN,GSN,GSN,GSN EXON Missense_R91W,Missense_R91W,Missense_R91W,Missense_R102W,Missense_R127W,Missense_R102W,Missense_R91W,Missense_R108W,Missense_R99W,Missense_R142W exm778189 9 124065264 [T/G] NM_001127665,NM_001127662,NM_001127664,NM_001127667,NM_001127663,NM_001127666,NM_198252,NM_001258029,NM_001258030,NM_000177 GSN,GSN,GSN,GSN,GSN,GSN,GSN,GSN,GSN,GSN EXON Missense_R91L,Missense_R91L,Missense_R91L,Missense_R102L,Missense_R127L,Missense_R102L,Missense_R91L,Missense_R108L,Missense_R99L,Missense_R142L exm778191 9 124065279 [A/G] NM_001127665,NM_001127662,NM_001127664,NM_001127667,NM_001127663,NM_001127666,NM_198252,NM_001258029,NM_001258030,NM_000177 GSN,GSN,GSN,GSN,GSN,GSN,GSN,GSN,GSN,GSN EXON Missense_R96H,Missense_R96H,Missense_R96H,Missense_R107H,Missense_R132H,Missense_R107H,Missense_R96H,Missense_R113H,Missense_R104H,Missense_R147H exm778193 9 124072992 [A/G] NM_001127665,NM_001127662,NM_001127664,NM_001127667,NM_001127663,NM_001127666,NM_198252,NM_001258029,NM_001258030,NM_000177 GSN,GSN,GSN,GSN,GSN,GSN,GSN,GSN,GSN,GSN EXON Missense_V128M,Missense_V128M,Missense_V128M,Missense_V139M,Missense_V164M,Missense_V139M,Missense_V128M,Missense_V145M,Missense_V136M,Missense_V179M exm778202 9 124074641 [A/G] NM_001127665,NM_001127662,NM_001127664,NM_001127667,NM_001127663,NM_001127666,NM_198252,NM_001258029,NM_001258030,NM_000177 GSN,GSN,GSN,GSN,GSN,GSN,GSN,GSN,GSN,GSN EXON Missense_N180D,Missense_N180D,Missense_N180D,Missense_N191D,Missense_N216D,Missense_N191D,Missense_N180D,Missense_N197D,Missense_N188D,Missense_N231D exm778217 9 124076270 [T/C] NM_001127665,NM_001127662,NM_001127664,NM_001127667,NM_001127663,NM_001127666,NM_198252,NM_001258029,NM_001258030,NM_000177 GSN,GSN,GSN,GSN,GSN,GSN,GSN,GSN,GSN,GSN EXON Missense_A241V,Missense_A241V,Missense_A241V,Missense_A252V,Missense_A277V,Missense_A252V,Missense_A241V,Missense_A258V,Missense_A249V,Missense_A292V exm778231 9 124080744 [A/C] NM_001127665,NM_001127662,NM_001127664,NM_001127667,NM_001127663,NM_001127666,NM_198252,NM_001258029,NM_001258030,NM_000177 GSN,GSN,GSN,GSN,GSN,GSN,GSN,GSN,GSN,GSN EXON Missense_T316N,Missense_T316N,Missense_T316N,Missense_T327N,Missense_T352N,Missense_T327N,Missense_T316N,Missense_T333N,Missense_T324N,Missense_T367N exm778242 9 124081138 [A/G] NM_001127665,NM_001127662,NM_001127664,NM_001127667,NM_001127663,NM_001127666,NM_198252,NM_001258029,NM_001258030,NM_000177 GSN,GSN,GSN,GSN,GSN,GSN,GSN,GSN,GSN,GSN EXON Missense_D391N,Missense_D391N,Missense_D391N,Missense_D402N,Missense_D427N,Missense_D402N,Missense_D391N,Missense_D408N,Missense_D399N,Missense_D442N exm778247 9 124083579 [A/G] NM_001127665,NM_001127662,NM_001127664,NM_001127667,NM_001127663,NM_001127666,NM_198252,NM_001258029,NM_001258030,NM_000177 GSN,GSN,GSN,GSN,GSN,GSN,GSN,GSN,GSN,GSN EXON Missense_V409M,Missense_V409M,Missense_V409M,Missense_V420M,Missense_V445M,Missense_V420M,Missense_V409M,Missense_V426M,Missense_V417M,Missense_V460M exm778251 9 124083642 [T/C] NM_001127665,NM_001127662,NM_001127664,NM_001127667,NM_001127663,NM_001127666,NM_198252,NM_001258029,NM_001258030,NM_000177 GSN,GSN,GSN,GSN,GSN,GSN,GSN,GSN,GSN,GSN EXON Missense_R430C,Missense_R430C,Missense_R430C,Missense_R441C,Missense_R466C,Missense_R441C,Missense_R430C,Missense_R447C,Missense_R438C,Missense_R481C exm778264 9 124088860 [A/G] NM_001127665,NM_001127662,NM_001127664,NM_001127667,NM_001127663,NM_001127666,NM_198252,NM_001258029,NM_001258030,NM_000177 GSN,GSN,GSN,GSN,GSN,GSN,GSN,GSN,GSN,GSN EXON Missense_Y496C,Missense_Y496C,Missense_Y496C,Missense_Y507C,Missense_Y532C,Missense_Y507C,Missense_Y496C,Missense_Y513C,Missense_Y504C,Missense_Y547C exm778266 9 124088886 [A/G] NM_001127665,NM_001127662,NM_001127664,NM_001127667,NM_001127663,NM_001127666,NM_198252,NM_001258029,NM_001258030,NM_000177 GSN,GSN,GSN,GSN,GSN,GSN,GSN,GSN,GSN,GSN EXON Missense_G505R,Missense_G505R,Missense_G505R,Missense_G516R,Missense_G541R,Missense_G516R,Missense_G505R,Missense_G522R,Missense_G513R,Missense_G556R exm778268 9 124088911 [A/G] NM_001127665,NM_001127662,NM_001127664,NM_001127667,NM_001127663,NM_001127666,NM_198252,NM_001258029,NM_001258030,NM_000177 GSN,GSN,GSN,GSN,GSN,GSN,GSN,GSN,GSN,GSN EXON Missense_R513H,Missense_R513H,Missense_R513H,Missense_R524H,Missense_R549H,Missense_R524H,Missense_R513H,Missense_R530H,Missense_R521H,Missense_R564H exm778270 9 124088928 [A/G] NM_001127665,NM_001127662,NM_001127664,NM_001127667,NM_001127663,NM_001127666,NM_198252,NM_001258029,NM_001258030,NM_000177 GSN,GSN,GSN,GSN,GSN,GSN,GSN,GSN,GSN,GSN EXON Missense_A519T,Missense_A519T,Missense_A519T,Missense_A530T,Missense_A555T,Missense_A530T,Missense_A519T,Missense_A536T,Missense_A527T,Missense_A570T exm778280 9 124089644 [T/C] NM_001127665,NM_001127662,NM_001127664,NM_001127667,NM_001127663,NM_001127666,NM_198252,NM_001258029,NM_001258030,NM_000177 GSN,GSN,GSN,GSN,GSN,GSN,GSN,GSN,GSN,GSN EXON Missense_S549L,Missense_S549L,Missense_S549L,Missense_S560L,Missense_S585L,Missense_S560L,Missense_S549L,Missense_S566L,Missense_S557L,Missense_S600L exm778281 9 124089660 [A/G] NM_001127665,NM_001127662,NM_001127664,NM_001127667,NM_001127663,NM_001127666,NM_198252,NM_001258029,NM_001258030,NM_000177 GSN,GSN,GSN,GSN,GSN,GSN,GSN,GSN,GSN,GSN EXON Nonsense_W554X,Nonsense_W554X,Nonsense_W554X,Nonsense_W565X,Nonsense_W590X,Nonsense_W565X,Nonsense_W554X,Nonsense_W571X,Nonsense_W562X,Nonsense_W605X exm778282 9 124089661 [A/G] NM_001127665,NM_001127662,NM_001127664,NM_001127667,NM_001127663,NM_001127666,NM_198252,NM_001258029,NM_001258030,NM_000177 GSN,GSN,GSN,GSN,GSN,GSN,GSN,GSN,GSN,GSN EXON Missense_V555M,Missense_V555M,Missense_V555M,Missense_V566M,Missense_V591M,Missense_V566M,Missense_V555M,Missense_V572M,Missense_V563M,Missense_V606M exm778285 9 124089692 [T/C] NM_001127665,NM_001127662,NM_001127664,NM_001127667,NM_001127663,NM_001127666,NM_198252,NM_001258029,NM_001258030,NM_000177 GSN,GSN,GSN,GSN,GSN,GSN,GSN,GSN,GSN,GSN EXON Missense_T565M,Missense_T565M,Missense_T565M,Missense_T576M,Missense_T601M,Missense_T576M,Missense_T565M,Missense_T582M,Missense_T573M,Missense_T616M exm778293 9 124091256 [T/G] NM_001127665,NM_001127662,NM_001127664,NM_001127667,NM_001127663,NM_001127666,NM_198252,NM_001258029,NM_001258030,NM_000177 GSN,GSN,GSN,GSN,GSN,GSN,GSN,GSN,GSN,GSN EXON Missense_R617L,Missense_R617L,Missense_R617L,Missense_R628L,Missense_R653L,Missense_R628L,Missense_R617L,Missense_R634L,Missense_R625L,Missense_R668L exm778297 9 124091559 [T/C] NM_001127665,NM_001127662,NM_001127664,NM_001127667,NM_001127663,NM_001127666,NM_198252,NM_001258029,NM_001258030,NM_000177 GSN,GSN,GSN,GSN,GSN,GSN,GSN,GSN,GSN,GSN EXON Missense_T644M,Missense_T644M,Missense_T644M,Missense_T655M,Missense_T680M,Missense_T655M,Missense_T644M,Missense_T661M,Missense_T652M,Missense_T695M exm778302 9 124094730 [T/C] NM_001127665,NM_001127662,NM_001127664,NM_001127667,NM_001127663,NM_001127666,NM_198252,NM_001258029,NM_001258030,NM_000177 GSN,GSN,GSN,GSN,GSN,GSN,GSN,GSN,GSN,GSN EXON Missense_T682M,Missense_T682M,Missense_T682M,Missense_T693M,Missense_T718M,Missense_T693M,Missense_T682M,Missense_T699M,Missense_T690M,Missense_T733M exm778305 9 124094754 [A/G] NM_001127665,NM_001127662,NM_001127664,NM_001127667,NM_001127663,NM_001127666,NM_198252,NM_001258029,NM_001258030,NM_000177 GSN,GSN,GSN,GSN,GSN,GSN,GSN,GSN,GSN,GSN EXON Missense_R690Q,Missense_R690Q,Missense_R690Q,Missense_R701Q,Missense_R726Q,Missense_R701Q,Missense_R690Q,Missense_R707Q,Missense_R698Q,Missense_R741Q exm778313 9 124103523 [A/G] NM_198194,NM_001270526,NM_004099,NR_073037,NM_001270527 STOM,STOM,STOM,STOM,STOM EXON Missense_M110T,Silent,Missense_M275T,Silent,Silent exm778325 9 124111547 [T/C] NM_198194,NM_001270526,NM_004099,NR_073037,NM_001270527 STOM,STOM,STOM,STOM,STOM EXON Silent,Missense_V126I,Missense_V126I,Silent,Missense_V126I exm2182993 9 124116908 [T/C] NM_198194,NM_001270526,NM_004099,NR_073037,NM_001270527 STOM,STOM,STOM,STOM,STOM EXON Silent,Missense_R70H,Missense_R70H,Silent,Missense_R70H exm2259133 9 124222033 [T/C] NR_003191,NR_045211 GGTA1P,GGTA1P Silent,Silent exm-rs10217648 9 124380922 [T/C] NM_032552 DAB2IP Silent exm2271222 9 124390320 [T/C] NM_032552 DAB2IP Silent exm-rs7025486 9 124422403 [A/G] NM_032552 DAB2IP Silent exm778348 9 124441020 [T/C] NM_032552 DAB2IP EXON Missense_P35L exm778349 9 124441035 [T/C] NM_032552 DAB2IP EXON Missense_S40L exm778356 9 124519294 [T/C] NM_032552,NM_138709 DAB2IP,DAB2IP EXON Missense_S94F,Silent exm778369 9 124521213 [T/C] NM_032552,NM_138709 DAB2IP,DAB2IP EXON Missense_R157W,Missense_R61W exm2259134 9 124522400 [A/G] NM_032552,NM_138709 DAB2IP,DAB2IP EXON Synonymous_K256K,Synonymous_K160K exm2259135 9 124522448 [A/G] NM_032552,NM_138709 DAB2IP,DAB2IP EXON Synonymous_S272S,Synonymous_S176S exm778413 9 124526077 [T/C] NM_032552,NM_138709 DAB2IP,DAB2IP EXON Missense_S432L,Missense_S336L exm778415 9 124526082 [A/G] NM_032552,NM_138709 DAB2IP,DAB2IP EXON Missense_A434T,Missense_A338T exm778432 9 124530895 [A/G] NM_032552,NM_138709 DAB2IP,DAB2IP EXON Missense_V600I,Missense_V504I exm778442 9 124532937 [T/C] NM_032552,NM_138709 DAB2IP,DAB2IP EXON Missense_P643L,Missense_P547L exm778488 9 124535442 [A/G] NM_032552,NM_138709 DAB2IP,DAB2IP EXON Missense_A851T,Missense_A755T exm778489 9 124535443 [T/C] NM_032552,NM_138709 DAB2IP,DAB2IP EXON Missense_A851V,Missense_A755V exm778491 9 124535466 [A/G] NM_032552,NM_138709 DAB2IP,DAB2IP EXON Missense_G859S,Missense_G763S exm778493 9 124535478 [T/C] NM_032552,NM_138709 DAB2IP,DAB2IP EXON Missense_R863W,Missense_R767W exm778498 9 124535526 [T/C] NM_032552,NM_138709 DAB2IP,DAB2IP EXON Missense_R879W,Missense_R783W exm778504 9 124535704 [A/G] NM_032552,NM_138709 DAB2IP,DAB2IP EXON Missense_R938H,Missense_R842H exm778510 9 124536561 [A/G] NM_032552,NM_138709 DAB2IP,DAB2IP EXON Missense_N969S,Missense_N873S exm2259136 9 124536580 [T/C] NM_032552,NM_138709 DAB2IP,DAB2IP EXON Synonymous_A975A,Synonymous_A879A exm2183044 9 124536644 [A/C] NM_032552,NM_138709 DAB2IP,DAB2IP EXON Missense_H997N,Missense_H901N exm778531 9 124543753 [A/G] NM_032552,NM_138709 DAB2IP,DAB2IP EXON Missense_V1081M,Missense_V985M exm778536 9 124544697 [T/C] NM_032552,NM_138709 DAB2IP,DAB2IP EXON Silent,Missense_R1040C exm778545 9 124584915 [T/C] NM_001139442 TTLL11 EXON Missense_R785H exm2271142 9 124650611 [T/C] NM_001139442 TTLL11 Silent exm778569 9 124751446 [A/G] NM_001139442,NM_194252 TTLL11,TTLL11 EXON Silent,Missense_F523L exm778576 9 124751578 [T/C] NM_001139442,NM_194252 TTLL11,TTLL11 EXON Missense_I479V,Missense_I479V exm778577 9 124751602 [T/C] NM_001139442,NM_194252 TTLL11,TTLL11 EXON Missense_D471N,Missense_D471N exm2183055 9 124751733 [T/C] NM_001139442,NM_194252 TTLL11,TTLL11 EXON Missense_R427H,Missense_R427H exm778588 9 124751907 [A/G] NM_001139442,NM_194252 TTLL11,TTLL11 EXON Missense_A369V,Missense_A369V exm2259138 9 124751951 [A/G] NM_001139442,NM_194252 TTLL11,TTLL11 EXON Synonymous_D354D,Synonymous_D354D exm2259139 9 124752032 [A/G] NM_001139442,NM_194252 TTLL11,TTLL11 EXON Synonymous_D327D,Synonymous_D327D exm778595 9 124794020 [T/G] NM_001139442,NM_194252 TTLL11,TTLL11 EXON Missense_F315L,Missense_F315L exm778601 9 124794099 [T/C] NM_001139442,NM_194252 TTLL11,TTLL11 EXON Missense_R289K,Missense_R289K exm778607 9 124801631 [T/C] NM_001139442,NM_194252 TTLL11,TTLL11 EXON Missense_R250H,Missense_R250H exm778613 9 124855059 [T/G] NM_001139442,NM_194252 TTLL11,TTLL11 EXON Missense_N213K,Missense_N213K exm778635 9 124855591 [T/G] NM_001139442,NM_194252 TTLL11,TTLL11 EXON Missense_A36E,Missense_A36E exm778637 9 124855687 [A/G] NM_001139442,NM_194252 TTLL11,TTLL11 EXON Missense_A4V,Missense_A4V exm2266939 9 124881622 [A/G] exm778657 9 124914575 [T/C] NM_014222 NDUFA8 EXON Missense_R55Q exm778659 9 124914609 [T/C] NM_014222 NDUFA8 EXON Missense_M44V exm2183077 9 124914671 [A/G] NM_014222 NDUFA8 EXON Missense_A23V exm778698 9 124931954 [T/C] NM_198469 MORN5 EXON Missense_Y76H exm778699 9 124931957 [T/G] NM_198469 MORN5 EXON Missense_D77Y exm2247501 9 124931981 [A/G] NM_198469 MORN5 EXON Missense_D85N exm778701 9 124931984 [A/G] NM_198469 MORN5 EXON Missense_G86S exm778711 9 124936867 [T/G] NM_198469 MORN5 EXON Missense_V134L exm778731 9 124971946 [T/G] NM_014368,NM_199160,NM_001242334,NM_001242333,NM_001242335 LHX6,LHX6,LHX6,LHX6,LHX6 EXON Missense_P369T,Silent,Missense_P340T,Silent,Missense_P153T exm778743 9 124976576 [T/C] NM_014368,NM_199160,NM_001242334,NM_001242333,NM_001242335 LHX6,LHX6,LHX6,LHX6,LHX6 EXON Missense_A257T,Missense_A257T,Missense_A228T,Missense_A246T,Missense_A41T exm778762 9 125007584 [T/C] NR_027126,NM_033117,NR_027125 RBM18,RBM18,RBM18 EXON Silent,Missense_I122V,Silent exm778782 9 125033225 [T/C] NM_001173512,NM_138777,NM_199177 MRRF,MRRF,MRRF EXON Missense_L19F,Missense_L19F,Missense_L19F exm778783 9 125033231 [T/G] NM_001173512,NM_138777,NM_199177 MRRF,MRRF,MRRF EXON Missense_A21S,Missense_A21S,Missense_A21S exm778790 9 125033303 [A/G] NM_001173512,NM_138777,NM_199177 MRRF,MRRF,MRRF EXON Missense_M45V,Missense_M45V,Missense_M45V exm778798 9 125042876 [A/G] NM_001173512,NM_138777,NM_199177 MRRF,MRRF,MRRF EXON Silent,Synonymous_P113P,Synonymous_P113P exm778806 9 125054026 [A/G] NM_001173512,NM_138777,NM_199177 MRRF,MRRF,MRRF Silent,Silent,Silent exm778815 9 125075589 [A/G] NM_001173512,NM_138777,NM_199177 MRRF,MRRF,MRRF EXON Missense_R160H,Missense_R212H,Silent exm778816 9 125075600 [A/G] NM_001173512,NM_138777,NM_199177 MRRF,MRRF,MRRF EXON Missense_M164V,Missense_M216V,Silent exm778830 9 125133479 [T/C] NM_001271166,NM_001271368,NM_001271164,NM_080591,NM_001271367,NM_000962 PTGS1,PTGS1,PTGS1,PTGS1,PTGS1,PTGS1 EXON Silent,Silent,Missense_W8R,Missense_W8R,Silent,Missense_W8R exm778833 9 125133507 [T/C] NM_001271166,NM_001271368,NM_001271164,NM_080591,NM_001271367,NM_000962 PTGS1,PTGS1,PTGS1,PTGS1,PTGS1,PTGS1 EXON Silent,Silent,Missense_P17L,Missense_P17L,Silent,Missense_P17L exm778842 9 125140241 [A/G] NM_001271166,NM_001271368,NM_001271164,NM_080591,NM_001271367,NM_000962,NM_001271165 PTGS1,PTGS1,PTGS1,PTGS1,PTGS1,PTGS1,PTGS1 EXON Silent,Missense_R28H,Missense_R53H,Missense_R53H,Silent,Missense_R53H,Silent exm778846 9 125140294 [T/C] NM_001271166,NM_001271368,NM_001271164,NM_080591,NM_001271367,NM_000962,NM_001271165 PTGS1,PTGS1,PTGS1,PTGS1,PTGS1,PTGS1,PTGS1 EXON Silent,Missense_P46S,Missense_P71S,Missense_P71S,Silent,Missense_P71S,Silent exm778852 9 125140786 [T/C] NM_001271166,NM_001271368,NM_001271164,NM_080591,NM_001271367,NM_000962,NM_001271165 PTGS1,PTGS1,PTGS1,PTGS1,PTGS1,PTGS1,PTGS1 EXON Silent,Missense_R71C,Missense_R96C,Missense_R96C,Silent,Missense_R96C,Silent exm778855 9 125140837 [T/C] NM_001271166,NM_001271368,NM_001271164,NM_080591,NM_001271367,NM_000962,NM_001271165 PTGS1,PTGS1,PTGS1,PTGS1,PTGS1,PTGS1,PTGS1 EXON Missense_R4C,Missense_R88C,Missense_R113C,Missense_R113C,Missense_R4C,Missense_R113C,Missense_R4C exm778865 9 125141171 [A/G] NM_001271166,NM_001271368,NM_001271164,NM_080591,NM_001271367,NM_000962,NM_001271165 PTGS1,PTGS1,PTGS1,PTGS1,PTGS1,PTGS1,PTGS1 EXON Missense_D48G,Missense_D132G,Silent,Missense_D157G,Missense_D48G,Missense_D157G,Missense_D48G exm778869 9 125143707 [A/C] NM_001271166,NM_001271368,NM_001271164,NM_080591,NM_001271367,NM_000962,NM_001271165 PTGS1,PTGS1,PTGS1,PTGS1,PTGS1,PTGS1,PTGS1 EXON Missense_K76T,Missense_K160T,Missense_K137T,Missense_K185T,Missense_K76T,Missense_K185T,Missense_K76T exm2183152 9 125143727 [A/G] NM_001271166,NM_001271368,NM_001271164,NM_080591,NM_001271367,NM_000962,NM_001271165 PTGS1,PTGS1,PTGS1,PTGS1,PTGS1,PTGS1,PTGS1 EXON Missense_G83S,Missense_G167S,Missense_G144S,Missense_G192S,Missense_G83S,Missense_G192S,Missense_G83S exm778876 9 125143952 [A/G] NM_001271166,NM_001271368,NM_001271164,NM_080591,NM_001271367,NM_000962,NM_001271165 PTGS1,PTGS1,PTGS1,PTGS1,PTGS1,PTGS1,PTGS1 EXON Missense_G121S,Missense_G205S,Missense_G182S,Missense_G230S,Missense_G121S,Missense_G230S,Missense_G121S exm778877 9 125143973 [A/C] NM_001271166,NM_001271368,NM_001271164,NM_080591,NM_001271367,NM_000962,NM_001271165 PTGS1,PTGS1,PTGS1,PTGS1,PTGS1,PTGS1,PTGS1 EXON Missense_L128M,Missense_L212M,Missense_L189M,Missense_L237M,Missense_L128M,Missense_L237M,Missense_L128M exm2247507 9 125148994 [T/C] NM_001271166,NM_001271368,NM_001271164,NM_080591,NM_001271367,NM_000962,NM_001271165 PTGS1,PTGS1,PTGS1,PTGS1,PTGS1,PTGS1,PTGS1 EXON Silent,Silent,Missense_R379C,Silent,Silent,Missense_R427C,Missense_R318C exm2183165 9 125148995 [A/G] NM_001271166,NM_001271368,NM_001271164,NM_080591,NM_001271367,NM_000962,NM_001271165 PTGS1,PTGS1,PTGS1,PTGS1,PTGS1,PTGS1,PTGS1 EXON Silent,Silent,Missense_R379H,Silent,Silent,Missense_R427H,Missense_R318H exm778903 9 125148999 [G/C] NM_001271166,NM_001271368,NM_001271164,NM_080591,NM_001271367,NM_000962,NM_001271165 PTGS1,PTGS1,PTGS1,PTGS1,PTGS1,PTGS1,PTGS1 EXON Silent,Silent,Missense_Q380H,Silent,Silent,Missense_Q428H,Missense_Q319H exm778905 9 125152480 [A/G] NM_001271166,NM_001271368,NM_001271164,NM_080591,NM_001271367,NM_000962,NM_001271165 PTGS1,PTGS1,PTGS1,PTGS1,PTGS1,PTGS1,PTGS1 EXON Missense_G288S,Missense_G372S,Missense_G386S,Missense_G397S,Missense_G288S,Missense_G434S,Missense_G325S exm778906 9 125152522 [A/G] NM_001271166,NM_001271368,NM_001271164,NM_080591,NM_001271367,NM_000962,NM_001271165 PTGS1,PTGS1,PTGS1,PTGS1,PTGS1,PTGS1,PTGS1 EXON Missense_V302M,Missense_V386M,Missense_V400M,Missense_V411M,Missense_V302M,Missense_V448M,Missense_V339M exm778910 9 125152621 [A/G] NM_001271166,NM_001271368,NM_001271164,NM_080591,NM_001271367,NM_000962,NM_001271165 PTGS1,PTGS1,PTGS1,PTGS1,PTGS1,PTGS1,PTGS1 EXON Missense_V335I,Missense_V419I,Missense_V433I,Missense_V444I,Missense_V335I,Missense_V481I,Missense_V372I exm778921 9 125154677 [A/G] NM_001271166,NM_001271368,NM_001271164,NM_080591,NM_001271367,NM_000962,NM_001271165 PTGS1,PTGS1,PTGS1,PTGS1,PTGS1,PTGS1,PTGS1 EXON Missense_E406K,Missense_E490K,Missense_E504K,Missense_E515K,Missense_E406K,Missense_E552K,Missense_E443K exm778937 9 125239449 [A/G] NM_001004451 OR1J1 EXON Missense_R253W exm778939 9 125239501 [T/G] NM_001004451 OR1J1 EXON Nonsense_C235X exm778941 9 125239553 [T/C] NM_001004451 OR1J1 EXON Missense_Y218C exm778948 9 125239692 [A/G] NM_001004451 OR1J1 EXON Missense_H172Y exm778951 9 125239796 [G/C] NM_001004451 OR1J1 EXON Missense_T137S exm778969 9 125240175 [T/C] NM_001004451 OR1J1 EXON Missense_E11K exm778989 9 125273361 [A/G] NM_054107 OR1J2 EXON Missense_Y94C exm2259141 9 125273419 [T/C] NM_054107 OR1J2 EXON Synonymous_F113F exm2277376 9 125273434 [A/G] NM_054107 OR1J2 EXON Missense_M118I exm778994 9 125273435 [A/G] NM_054107 OR1J2 EXON Missense_A119T exm779003 9 125273573 [T/C] NM_054107 OR1J2 EXON Missense_R165W exm779004 9 125273574 [A/G] NM_054107 OR1J2 EXON Missense_R165Q exm779011 9 125273684 [T/G] NM_054107 OR1J2 EXON Missense_V202L exm779015 9 125273740 [A/C] NM_054107 OR1J2 EXON Nonsense_Y220X exm779016 9 125273742 [T/C] NM_054107 OR1J2 EXON Missense_I221T exm779019 9 125273760 [A/G] NM_054107 OR1J2 EXON Missense_R227K exm2183195 9 125273904 [T/C] NM_054107 OR1J2 EXON Missense_A275V exm779026 9 125273916 [T/C] NM_054107 OR1J2 EXON Missense_T279M exm779028 9 125273921 [A/G] NM_054107 OR1J2 EXON Missense_V281I exm779034 9 125274015 [T/C] NM_054107 OR1J2 EXON Missense_S312F exm779036 9 125281436 [A/T] NM_001004452 OR1J4 EXON Missense_Q6L exm779039 9 125281532 [T/C] NM_001004452 OR1J4 EXON Missense_T38M exm779044 9 125281627 [A/G] NM_001004452 OR1J4 EXON Missense_D70N exm779049 9 125281746 [A/T] NM_001004452 OR1J4 EXON Missense_D109E exm779052 9 125281780 [A/G] NM_001004452 OR1J4 EXON Missense_D121N exm779055 9 125281838 [T/A] NM_001004452 OR1J4 EXON Missense_L140Q exm779058 9 125281966 [T/G] NM_001004452 OR1J4 EXON Missense_A183S exm779060 9 125281999 [T/C] NM_001004452 OR1J4 EXON Missense_L194F exm779068 9 125282180 [T/C] NM_001004452 OR1J4 EXON Missense_T254I exm779080 9 125288720 [A/G] NM_012363 OR1N1 EXON Missense_P285S exm779087 9 125288840 [T/C] NM_012363 OR1N1 EXON Missense_V245I exm779089 9 125288887 [T/C] NM_012363 OR1N1 EXON Missense_R229H exm779090 9 125288893 [T/C] NM_012363 OR1N1 EXON Missense_R227Q exm2183213 9 125289085 [T/C] NM_012363 OR1N1 EXON Missense_R163Q exm779112 9 125289320 [T/C] NM_012363 OR1N1 EXON Missense_T85A exm779113 9 125289401 [A/T] NM_012363 OR1N1 EXON Missense_Y58N exm779120 9 125289503 [T/A] NM_012363 OR1N1 EXON Missense_S24T exm779121 9 125289521 [A/G] NM_012363 OR1N1 EXON Missense_P18S exm779123 9 125289523 [A/G] NM_012363 OR1N1 EXON Missense_A17V exm779124 9 125289554 [T/C] NM_012363 OR1N1 EXON Missense_I7V exm2259142 9 125315478 [T/C] NM_001004457 OR1N2 EXON Synonymous_H10H exm779129 9 125315478 [T/C] NM_001004457 OR1N2 EXON Synonymous_H10H exm779139 9 125315557 [T/C] NM_001004457 OR1N2 EXON Missense_W37R exm779148 9 125315821 [C/G] NM_001004457 OR1N2 EXON Missense_G125R exm779150 9 125315863 [T/C] NM_001004457 OR1N2 EXON Missense_R139C exm779163 9 125316028 [T/C] NM_001004457 OR1N2 EXON Missense_F194L exm779167 9 125316056 [A/G] NM_001004457 OR1N2 EXON Missense_K203R exm779172 9 125316157 [T/C] NM_001004457 OR1N2 EXON Missense_R237C exm779174 9 125316179 [T/G] NM_001004457 OR1N2 EXON Missense_V244G exm779183 9 125316350 [T/C] NM_001004457 OR1N2 EXON Missense_T301M exm779185 9 125316352 [G/C] NM_001004457 OR1N2 EXON Missense_L302V exm779203 9 125330021 [A/G] NM_001004454 OR1L8 EXON Missense_L246F exm779205 9 125330051 [A/G] NM_001004454 OR1L8 EXON Missense_R236C exm779206 9 125330096 [A/G] NM_001004454 OR1L8 EXON Nonsense_R221X exm779207 9 125330125 [C/G] NM_001004454 OR1L8 EXON Missense_R211P exm779212 9 125330240 [T/G] NM_001004454 OR1L8 EXON Missense_N173H exm779217 9 125330378 [T/C] NM_001004454 OR1L8 EXON Missense_V127I exm779220 9 125330390 [A/G] NM_001004454 OR1L8 EXON Missense_R123C exm779227 9 125330606 [A/G] NM_001004454 OR1L8 EXON Missense_R51C exm779235 9 125330714 [A/G] NM_001004454 OR1L8 EXON Missense_L15F exm2183236 9 125330749 [A/C] NM_001004454 OR1L8 EXON Missense_R3I exm779239 9 125330756 [T/C] NM_001004454 OR1L8 EXON Missense_M1V exm779243 9 125377087 [A/G] NM_012364 OR1Q1 EXON Missense_Q24R exm779246 9 125377122 [A/G] NM_012364 OR1Q1 EXON Missense_A36T exm779247 9 125377126 [T/C] NM_012364 OR1Q1 EXON Missense_I37T exm779249 9 125377176 [T/C] NM_012364 OR1Q1 EXON Missense_R54C exm2183237 9 125377375 [A/G] NM_012364 OR1Q1 EXON Missense_Y120C exm779262 9 125377505 [A/G] NM_012364 OR1Q1 EXON Missense_I163M exm779264 9 125377540 [T/C] NM_012364 OR1Q1 EXON Missense_P175L exm779267 9 125377563 [A/G] NM_012364 OR1Q1 EXON Missense_A183T exm779273 9 125377734 [A/G] NM_012364 OR1Q1 EXON Missense_T240A exm779281 9 125377857 [G/C] NM_012364 OR1Q1 EXON Missense_V281L exm779284 9 125377914 [C/G] NM_012364 OR1Q1 EXON Missense_G300R exm779289 9 125390874 [A/C] NM_001004450 OR1B1 EXON Missense_V314G exm779290 9 125390878 [A/G] NM_001004450 OR1B1 EXON Missense_W313R exm779293 9 125391012 [C/G] NM_001004450 OR1B1 EXON Missense_P268R exm779294 9 125391026 [A/C] NM_001004450 OR1B1 EXON Missense_C263W exm779298 9 125391054 [A/G] NM_001004450 OR1B1 EXON Missense_V254A exm779300 9 125391070 [A/G] NM_001004450 OR1B1 EXON Missense_S249P exm779303 9 125391094 [A/G] NM_001004450 OR1B1 EXON Missense_R241C exm779306 9 125391117 [T/C] NM_001004450 OR1B1 EXON Missense_R233H exm779307 9 125391127 [T/C] NM_001004450 OR1B1 EXON Missense_A230T exm779310 9 125391139 [A/G] NM_001004450 OR1B1 EXON Nonsense_R226X exm779314 9 125391241 [A/G] NM_001004450 OR1B1 EXON Nonsense_R192X exm779318 9 125391349 [G/C] NM_001004450 OR1B1 EXON Missense_L156V exm779320 9 125391369 [A/G] NM_001004450 OR1B1 EXON Missense_L149S exm779321 9 125391391 [A/G] NM_001004450 OR1B1 EXON Missense_R142W exm-rs1536928 9 125391409 [A/G] NM_001004450 OR1B1 EXON Synonymous_L136L exm779327 9 125391445 [A/G] NM_001004450 OR1B1 EXON Missense_R124C exm779334 9 125391634 [T/C] NM_001004450 OR1B1 EXON Missense_M61V exm2183246 9 125391653 [T/G] NM_001004450 OR1B1 EXON Missense_D54E exm779344 9 125391807 [T/C] NM_001004450 OR1B1 EXON Missense_S3N exm779353 9 125424052 [T/C] NM_001005236 OR1L1 EXON Nonsense_R20X exm779360 9 125424120 [A/C] NM_001005236 OR1L1 EXON Missense_N42K exm779362 9 125424143 [A/G] NM_001005236 OR1L1 EXON Missense_R50H exm779363 9 125424155 [A/G] NM_001005236 OR1L1 EXON Missense_R54H exm779365 9 125424164 [T/C] NM_001005236 OR1L1 EXON Missense_T57M exm779367 9 125424189 [C/G] NM_001005236 OR1L1 EXON Missense_I65M exm779371 9 125424277 [A/G] NM_001005236 OR1L1 EXON Missense_S95G exm779373 9 125424289 [A/G] NM_001005236 OR1L1 EXON Missense_T99A exm779377 9 125424358 [T/C] NM_001005236 OR1L1 EXON Missense_R122C exm779379 9 125424451 [T/C] NM_001005236 OR1L1 EXON Missense_H153Y exm779386 9 125424532 [A/G] NM_001005236 OR1L1 EXON Missense_D180N exm779390 9 125424634 [A/G] NM_001005236 OR1L1 EXON Missense_I214V exm779395 9 125424764 [A/G] NM_001005236 OR1L1 EXON Missense_Y257C exm779396 9 125424766 [C/G] NM_001005236 OR1L1 EXON Missense_L258V exm779397 9 125424817 [A/G] NM_001005236 OR1L1 EXON Missense_I275V exm779408 9 125437482 [A/G] NM_001005234 OR1L3 EXON Missense_R25K exm779412 9 125437569 [A/G] NM_001005234 OR1L3 EXON Missense_R54Q exm779413 9 125437583 [A/G] NM_001005234 OR1L3 EXON Missense_M59V exm779416 9 125437611 [T/C] NM_001005234 OR1L3 EXON Missense_F68S exm779419 9 125437664 [T/G] NM_001005234 OR1L3 EXON Missense_L86V exm779421 9 125437725 [T/C] NM_001005234 OR1L3 EXON Missense_V106A exm779424 9 125437769 [A/G] NM_001005234 OR1L3 EXON Missense_N121D exm779427 9 125437820 [T/C] NM_001005234 OR1L3 EXON Missense_R138C exm779430 9 125437872 [T/A] NM_001005234 OR1L3 EXON Missense_H155L exm779438 9 125438019 [A/T] NM_001005234 OR1L3 EXON Missense_L204Q exm779439 9 125438057 [T/G] NM_001005234 OR1L3 EXON Missense_S217A exm779442 9 125438124 [T/C] NM_001005234 OR1L3 EXON Missense_S239F exm779444 9 125438220 [A/G] NM_001005234 OR1L3 EXON Missense_R271Q exm779446 9 125438244 [T/C] NM_001005234 OR1L3 EXON Missense_V279A exm779455 9 125438378 [T/C] NM_001005234 OR1L3 EXON Missense_P324S exm779458 9 125486270 [T/C] NM_001005235 OR1L4 EXON Missense_M1T exm2183273 9 125486384 [T/C] NM_001005235 OR1L4 EXON Missense_T39I exm779475 9 125486387 [T/C] NM_001005235 OR1L4 EXON Missense_A40V exm779484 9 125486542 [A/G] NM_001005235 OR1L4 EXON Missense_I92V exm779507 9 125486938 [A/G] NM_001005235 OR1L4 EXON Missense_V224I exm779527 9 125487196 [T/C] NM_001005235 OR1L4 EXON Missense_Y310H exm779536 9 125512245 [T/C] NM_001004453 OR1L6 EXON Missense_A40V exm779543 9 125512438 [G/C] NM_001004453 OR1L6 EXON Missense_F104L exm2276065 9 125512521 [A/C] NM_001004453 OR1L6 EXON Missense_H132P exm779552 9 125512575 [A/G] NM_001004453 OR1L6 EXON Missense_C150Y exm2259144 9 125512855 [T/C] NM_001004453 OR1L6 EXON Synonymous_G243G exm779567 9 125512861 [A/C] NM_001004453 OR1L6 EXON Missense_H245Q exm779568 9 125512908 [T/G] NM_001004453 OR1L6 EXON Missense_F261C exm779569 9 125512943 [T/C] NM_001004453 OR1L6 EXON Missense_R273W exm779570 9 125512960 [A/G] NM_001004453 OR1L6 EXON Missense_M278I exm779575 9 125551214 [A/G] NM_001001923 OR5C1 EXON Missense_M1I exm779576 9 125551226 [C/G] NM_001001923 OR5C1 EXON Missense_N5K exm779582 9 125551293 [T/C] NM_001001923 OR5C1 EXON Missense_R28C exm779593 9 125551489 [A/G] NM_001001923 OR5C1 EXON Missense_R93Q exm779597 9 125551633 [T/C] NM_001001923 OR5C1 EXON Missense_S141L exm779601 9 125551678 [A/G] NM_001001923 OR5C1 EXON Missense_G156E exm779603 9 125551732 [A/G] NM_001001923 OR5C1 EXON Missense_R174H exm779605 9 125551738 [A/G] NM_001001923 OR5C1 EXON Missense_R176Q exm779623 9 125551929 [T/C] NM_001001923 OR5C1 EXON Nonsense_R240X exm779626 9 125551965 [A/G] NM_001001923 OR5C1 EXON Missense_V252M exm779634 9 125552067 [A/G] NM_001001923 OR5C1 EXON Missense_I286V exm779637 9 125552100 [T/C] NM_001001923 OR5C1 EXON Missense_R297C exm779638 9 125552101 [A/G] NM_001001923 OR5C1 EXON Missense_R297H exm779643 9 125552163 [A/G] NM_001001923 OR5C1 EXON Missense_G318R exm779653 9 125562532 [A/G] NM_080859 OR1K1 EXON Missense_G44E exm779656 9 125562550 [T/C] NM_080859 OR1K1 EXON Missense_I50T exm779660 9 125562625 [T/C] NM_080859 OR1K1 EXON Missense_A75V exm779664 9 125562651 [A/G] NM_080859 OR1K1 EXON Missense_A84T exm779665 9 125562663 [T/G] NM_080859 OR1K1 EXON Missense_A88S exm779669 9 125562705 [A/G] NM_080859 OR1K1 EXON Missense_M102V exm779680 9 125562828 [A/G] NM_080859 OR1K1 EXON Missense_A143T exm779685 9 125562946 [A/C] NM_080859 OR1K1 EXON Missense_H182P exm779692 9 125563102 [T/G] NM_080859 OR1K1 EXON Missense_G234V exm779697 9 125563212 [T/C] NM_080859 OR1K1 EXON Missense_W271R exm779699 9 125563219 [A/G] NM_080859 OR1K1 EXON Missense_R273H exm779703 9 125563278 [A/C] NM_080859 OR1K1 EXON Missense_L293I exm779704 9 125563288 [A/G] NM_080859 OR1K1 EXON Missense_R296H exm779709 9 125563347 [T/G] NM_080859 OR1K1 EXON Missense_S316A exm2273459 9 125582173 [T/C] NM_005388 PDCL EXON Silent exm779712 9 125582399 [A/G] NM_005388 PDCL EXON Missense_C291R exm2247518 9 125582483 [C/G] NM_005388 PDCL EXON Missense_D263H exm779738 9 125585458 [T/C] NM_005388 PDCL EXON Missense_N64S exm2266873 9 125585909 [A/G] NM_005388 PDCL Silent exm779744 9 125588940 [G/C] NM_005388 PDCL EXON Missense_P43A exm779746 9 125588954 [C/G] NM_005388 PDCL EXON Missense_A38G exm779749 9 125589057 [A/G] NM_005388 PDCL EXON Missense_L4F exm779765 9 125613643 [A/G] NM_001100588 RC3H2 EXON Missense_L1064F exm779772 9 125616534 [A/G] NM_001100588,NM_018835 RC3H2,RC3H2 EXON Missense_I971T,Missense_I971T exm779774 9 125616852 [A/G] NM_001100588,NM_018835 RC3H2,RC3H2 EXON Missense_S953L,Missense_S953L exm779779 9 125617668 [C/G] NM_001100588,NM_018835 RC3H2,RC3H2 EXON Missense_D870E,Missense_D870E exm779786 9 125620270 [T/C] NM_001100588,NM_018835 RC3H2,RC3H2 EXON Missense_T796A,Missense_T796A exm779793 9 125620351 [T/C] NM_001100588,NM_018835 RC3H2,RC3H2 EXON Missense_T769A,Missense_T769A exm779794 9 125620357 [T/A] NM_001100588,NM_018835 RC3H2,RC3H2 EXON Missense_L767M,Missense_L767M exm779796 9 125620949 [T/C] NM_001100588,NM_018835 RC3H2,RC3H2 EXON Missense_R761K,Missense_R761K exm779804 9 125621145 [T/C] NM_001100588,NM_018835 RC3H2,RC3H2 EXON Missense_D696N,Missense_D696N exm779811 9 125621312 [T/C] NM_001100588,NM_018835 RC3H2,RC3H2 EXON Missense_N640S,Missense_N640S exm779815 9 125622259 [T/C] NM_001100588,NM_018835 RC3H2,RC3H2 EXON Missense_I596V,Missense_I596V exm779827 9 125627910 [T/C] NM_001100588,NM_018835 RC3H2,RC3H2 EXON Missense_N451S,Missense_N451S exm779865 9 125659569 [G/C] NM_001100588,NM_018835 RC3H2,RC3H2 EXON Missense_V74L,Missense_V74L exm779867 9 125659716 [T/C] NM_001100588,NM_018835 RC3H2,RC3H2 EXON Missense_V25M,Missense_V25M exm779886 9 125673569 [G/C] NM_006626 ZBTB6 EXON Missense_E261D exm779887 9 125673614 [C/G] NM_006626 ZBTB6 EXON Missense_M246I exm779890 9 125673640 [C/G] NM_006626 ZBTB6 EXON Missense_P238A exm779895 9 125673712 [G/C] NM_006626 ZBTB6 EXON Missense_D214H exm2183386 9 125674231 [T/C] NM_006626 ZBTB6 EXON Missense_D41N exm779921 9 125681052 [T/C] NM_020924 ZBTB26 EXON Missense_R388G exm779927 9 125681507 [T/C] NM_020924 ZBTB26 EXON Missense_H236R exm779931 9 125681589 [T/C] NM_020924 ZBTB26 EXON Missense_T209A exm2183390 9 125682009 [T/C] NM_020924 ZBTB26 EXON Missense_E69K exm779957 9 125746908 [C/G] NM_012197 RABGAP1 EXON Missense_Q99E exm779974 9 125751650 [A/G] NM_012197 RABGAP1 EXON Missense_H222R exm2183415 9 125782737 [A/G] NM_012197 RABGAP1 EXON Missense_K598R exm2183419 9 125796939 [A/G] NM_012197,NM_005294 RABGAP1,GPR21 EXON Silent,Missense_V32I exm780019 9 125797035 [A/G] NM_012197,NM_005294 RABGAP1,GPR21 EXON Silent,Missense_T64A exm780034 9 125797284 [T/C] NM_012197,NM_005294 RABGAP1,GPR21 EXON Silent,Missense_R147C exm780037 9 125797335 [T/G] NM_012197,NM_005294 RABGAP1,GPR21 EXON Silent,Missense_S164A exm780042 9 125797462 [T/C] NM_012197,NM_005294 RABGAP1,GPR21 EXON Silent,Missense_I206T exm780044 9 125797479 [T/G] NM_012197,NM_005294 RABGAP1,GPR21 EXON Silent,Missense_F212V exm780054 9 125797692 [T/C] NM_012197,NM_005294 RABGAP1,GPR21 EXON Silent,Missense_R283C exm780056 9 125797698 [A/G] NM_012197,NM_005294 RABGAP1,GPR21 EXON Silent,Missense_A285T exm780088 9 125852664 [T/C] NM_012197 RABGAP1 EXON Synonymous_N876N exm780092 9 125861052 [A/G] NM_012197 RABGAP1 EXON Missense_S931N exm780096 9 125863896 [T/C] NM_012197 RABGAP1 EXON Missense_R981C exm780124 9 125895238 [T/C] NR_033234,NM_018387,NM_001171137 STRBP,STRBP,STRBP EXON Silent,Missense_V595I,Missense_V581I exm2259146 9 125921414 [T/G] NR_033234,NM_018387,NM_001171137 STRBP,STRBP,STRBP EXON Silent,Synonymous_R266R,Synonymous_R252R exm780141 9 125921414 [T/G] NR_033234,NM_018387,NM_001171137 STRBP,STRBP,STRBP EXON Silent,Synonymous_R266R,Synonymous_R252R exm780145 9 125922692 [T/C] NR_033234,NM_018387,NM_001171137 STRBP,STRBP,STRBP EXON Silent,Missense_R226H,Missense_R212H exm780150 9 125923323 [A/G] NR_033234,NM_018387,NM_001171137 STRBP,STRBP,STRBP EXON Silent,Missense_P187L,Missense_P173L exm780155 9 125932187 [T/C] NR_033234,NM_018387,NM_001171137 STRBP,STRBP,STRBP EXON Silent,Missense_D177N,Missense_D163N exm780180 9 126118577 [T/C] NM_173689 CRB2 EXON Missense_A13V exm2271144 9 126123616 [T/C] NM_173689 CRB2 Silent exm780184 9 126125186 [T/C] NM_173689 CRB2 EXON Missense_P46L exm780187 9 126125191 [A/G] NM_173689 CRB2 EXON Missense_A48T exm780188 9 126125254 [T/C] NM_173689 CRB2 EXON Missense_R69W exm780193 9 126125318 [A/C] NM_173689 CRB2 EXON Missense_T90N exm780196 9 126125327 [A/G] NM_173689 CRB2 EXON Missense_R93H exm780200 9 126125364 [A/C] NM_173689 CRB2 EXON Nonsense_C105X exm780203 9 126125413 [A/C] NM_173689 CRB2 EXON Missense_T122P exm780207 9 126128211 [T/C] NM_173689 CRB2 EXON Missense_M145T exm780241 9 126129857 [A/G] NM_173689 CRB2 EXON Missense_D316N exm780247 9 126129962 [A/G] NM_173689 CRB2 EXON Missense_A351T exm2259148 9 126132505 [T/C] NM_173689 CRB2 EXON Synonymous_R391R exm780258 9 126132630 [T/C] NM_173689 CRB2 EXON Missense_P433L exm780261 9 126132698 [C/G] NM_173689 CRB2 EXON Missense_G456R exm780268 9 126132785 [G/C] NM_173689 CRB2 EXON Missense_E485Q exm780271 9 126132826 [T/G] NM_173689 CRB2 EXON Missense_W498C exm780275 9 126132918 [T/C] NM_173689 CRB2 EXON Missense_A529V exm780279 9 126132993 [T/C] NM_173689 CRB2 EXON Missense_A554V exm780288 9 126133149 [A/G] NM_173689 CRB2 EXON Missense_R606Q exm780290 9 126133160 [T/C] NM_173689 CRB2 EXON Missense_R610W exm780291 9 126133161 [T/G] NM_173689 CRB2 EXON Missense_R610L exm780311 9 126133547 [T/C] NM_173689 CRB2 EXON Missense_V709A exm780325 9 126133797 [T/G] NM_173689 CRB2 EXON Missense_E792D exm780326 9 126133801 [A/G] NM_173689 CRB2 EXON Missense_G794S exm780333 9 126134538 [G/C] NM_173689 CRB2 EXON Missense_P840R exm2259149 9 126134542 [A/G] NM_173689 CRB2 EXON Synonymous_T841T exm2247529 9 126136874 [A/G] NM_173689 CRB2 EXON Missense_K1136E exm780386 9 126137582 [T/C] NM_173689 CRB2 EXON Missense_I1198T exm780395 9 126139148 [T/C] NM_173689 CRB2 EXON Missense_L1222P exm780402 9 126139229 [A/G] NM_173689 CRB2 EXON Missense_R1249Q exm780430 9 126144043 [A/G] NM_020946 DENND1A EXON Missense_P900S exm780438 9 126144229 [T/G] NM_020946 DENND1A EXON Missense_M838L exm780455 9 126144441 [A/G] NM_020946 DENND1A EXON Missense_P767L exm780460 9 126144508 [C/G] NM_020946 DENND1A EXON Missense_R745G exm780462 9 126144516 [T/C] NM_020946 DENND1A EXON Missense_R742Q exm780464 9 126144553 [T/C] NM_020946 DENND1A EXON Missense_A730T exm780471 9 126144614 [A/C] NM_020946 DENND1A EXON Missense_E709D exm780488 9 126145981 [A/G] NM_020946 DENND1A EXON Missense_R597C exm780515 9 126165702 [A/G] NM_020946,NM_024820 DENND1A,DENND1A EXON Missense_T519M,Missense_T519M exm780516 9 126165712 [G/C] NM_020946,NM_024820 DENND1A,DENND1A EXON Missense_G516R,Missense_G516R exm780547 9 126220094 [A/G] NM_020946,NM_024820 DENND1A,DENND1A EXON Missense_T359I,Missense_T359I exm780550 9 126220130 [T/C] NM_020946,NM_024820 DENND1A,DENND1A EXON Missense_R347H,Missense_R347H exm780552 9 126220148 [G/C] NM_020946,NM_024820 DENND1A,DENND1A EXON Missense_A341G,Missense_A341G exm-rs7852296 9 126352218 [A/G] NM_020946,NM_024820 DENND1A,DENND1A Silent,Silent exm780579 9 126433572 [T/C] NM_020946,NM_024820 DENND1A,DENND1A EXON Missense_V151M,Missense_V151M exm-rs10818854 9 126446778 [A/G] NM_020946,NM_024820 DENND1A,DENND1A Silent,Silent exm-rs2479106 9 126525212 [A/G] NM_020946,NM_024820 DENND1A,DENND1A Silent,Silent exm2247532 9 126777521 [C/G] NM_004789 LHX2 EXON Missense_K148N exm780621 9 126777726 [A/G] NM_004789 LHX2 EXON Missense_V217M exm2271145 9 126779494 [T/C] NM_004789 LHX2 Silent exm780630 9 126783426 [A/C] NM_004789 LHX2 EXON Missense_P259Q exm2259151 9 126794902 [T/G] NM_004789 LHX2 EXON Synonymous_T379T exm-rs10818918 9 126860510 [A/G] exm-rs2807580 9 126926107 [T/C] exm780653 9 127064291 [A/C] NM_001166167,NM_001145001,NM_014397,NM_001166168,NM_001166171,NM_001166170,NM_001166169 NEK6,NEK6,NEK6,NEK6,NEK6,NEK6,NEK6 EXON Missense_N34K,Missense_N50K,Missense_N16K,Missense_N16K,Missense_N50K,Missense_N16K,Missense_N41K exm780659 9 127074825 [T/C] NM_001166167,NM_001145001,NM_014397,NM_001166168,NM_001166171,NM_001166170,NM_001166169 NEK6,NEK6,NEK6,NEK6,NEK6,NEK6,NEK6 EXON Missense_A61V,Missense_A77V,Missense_A43V,Missense_A43V,Missense_A77V,Missense_A43V,Missense_A68V exm2259152 9 127101924 [T/C] NM_001166167,NM_001145001,NM_014397,NM_001166168,NM_001166171,NM_001166170,NM_001166169 NEK6,NEK6,NEK6,NEK6,NEK6,NEK6,NEK6 EXON Synonymous_L251L,Synonymous_L267L,Synonymous_L233L,Synonymous_L233L,Synonymous_L267L,Synonymous_L233L,Synonymous_L258L exm780694 9 127113155 [G/C] NM_001166167,NM_001145001,NM_014397,NM_001166168,NM_001166171,NM_001166170,NM_001166169 NEK6,NEK6,NEK6,NEK6,NEK6,NEK6,NEK6 EXON Missense_H309D,Missense_H325D,Missense_H291D,Missense_H291D,Missense_H325D,Missense_H291D,Missense_H316D exm780701 9 127115893 [T/G] NM_002799,NR_027406 PSMB7,LOC100129034 EXON Missense_T273K,Silent exm780707 9 127119100 [T/C] NM_002799,NR_027406 PSMB7,LOC100129034 EXON Missense_S222N,Silent exm780718 9 127167651 [T/G] NM_002799 PSMB7 EXON Missense_H152Q exm780719 9 127174639 [G/C] NM_002799 PSMB7 EXON Missense_M129I exm780727 9 127177161 [A/G] NM_002799 PSMB7 EXON Missense_V39A exm780736 9 127213445 [A/G] NM_001161808 GPR144 EXON Missense_G8E exm780758 9 127215772 [C/G] NM_001161808 GPR144 EXON Missense_H266D exm780759 9 127215778 [T/C] NM_001161808 GPR144 EXON Missense_L268F exm780766 9 127216378 [T/C] NM_001161808 GPR144 Silent exm2247542 9 127217216 [A/C] NM_001161808 GPR144 EXON Missense_E420A exm780775 9 127217275 [A/G] NM_001161808 GPR144 EXON Missense_V440M exm780776 9 127217284 [A/G] NM_001161808 GPR144 EXON Missense_G443R exm2259153 9 127218258 [T/C] NM_001161808 GPR144 Silent exm780778 9 127218899 [A/C] NM_001161808 GPR144 Silent exm780780 9 127218986 [A/G] NM_001161808 GPR144 EXON Missense_R512Q exm780784 9 127220392 [C/G] NM_001161808 GPR144 EXON Missense_G521A exm780788 9 127220515 [A/G] NM_001161808 GPR144 EXON Missense_R562K exm780789 9 127220906 [T/C] NM_001161808 GPR144 EXON Missense_T566I exm780790 9 127220938 [C/G] NM_001161808 GPR144 EXON Missense_V577L exm780802 9 127230813 [A/G] NM_001161808 GPR144 EXON Missense_V724I exm780803 9 127230822 [A/G] NM_001161808 GPR144 EXON Missense_A727T exm780805 9 127230827 [A/G] NM_001161808 GPR144 EXON Missense_M728I exm780807 9 127230864 [A/G] NM_001161808 GPR144 EXON Missense_V741M exm780808 9 127230882 [T/C] NM_001161808 GPR144 EXON Missense_W747R exm780809 9 127230891 [A/G] NM_001161808 GPR144 EXON Missense_V750M exm780811 9 127231503 [A/G] NM_001161808 GPR144 EXON Missense_V771M exm780815 9 127231579 [A/G] NM_001161808 GPR144 EXON Missense_N796S exm780818 9 127231611 [A/G] NM_001161808 GPR144 EXON Missense_G807R exm780821 9 127231763 [A/G] NM_001161808 GPR144 EXON Missense_R832H exm780824 9 127231774 [G/C] NM_001161808 GPR144 EXON Missense_R836G exm2247546 9 127231792 [T/C] NM_001161808 GPR144 EXON Missense_P842S exm780831 9 127232873 [A/G] NM_001161808 GPR144 EXON Missense_V887M exm2183709 9 127245282 [A/C] NM_004959 NR5A1 EXON Missense_L381V exm780885 9 127262600 [T/G] NM_004959 NR5A1 EXON Nonsense_Y213X exm780906 9 127262871 [G/C] NM_004959 NR5A1 EXON Missense_G123A exm780907 9 127262993 [A/G] NM_004959 NR5A1 EXON Synonymous_A82A exm780920 9 127285000 [T/C] NM_001489,NM_033334 NR6A1,NR6A1 EXON Missense_S471N,Missense_S476N exm2183733 9 127287147 [T/C] NM_001489,NM_033334 NR6A1,NR6A1 EXON Missense_R398G,Missense_R403G exm780948 9 127300480 [T/G] NM_001489,NM_033334 NR6A1,NR6A1 EXON Missense_L234M,Missense_L239M exm780956 9 127302426 [T/C] NM_001489,NM_033334 NR6A1,NR6A1 EXON Missense_E157G,Missense_E161G exm780961 9 127316636 [T/C] NM_001489,NM_033334 NR6A1,NR6A1 EXON Missense_K115R,Missense_K119R exm780998 9 127549437 [A/G] NM_182487 OLFML2A EXON Missense_A92T exm780999 9 127549455 [A/G] NM_182487 OLFML2A EXON Missense_N98D exm781000 9 127549458 [T/C] NM_182487 OLFML2A EXON Missense_P99S exm781001 9 127549470 [A/G] NM_182487 OLFML2A EXON Missense_E103K exm781012 9 127561616 [A/G] NM_182487 OLFML2A EXON Missense_R172H exm781013 9 127561691 [A/G] NM_182487 OLFML2A EXON Missense_R197H exm2183785 9 127561723 [A/G] NM_182487 OLFML2A EXON Missense_A208T exm781031 9 127563858 [T/C] NM_182487 OLFML2A EXON Missense_R279C exm781038 9 127563930 [A/G] NM_182487 OLFML2A EXON Missense_E303K exm781040 9 127566378 [A/G] NM_182487 OLFML2A EXON Missense_T309A exm781058 9 127570069 [T/C] NM_182487 OLFML2A EXON Missense_A393V exm781062 9 127570089 [T/C] NM_182487 OLFML2A EXON Missense_R400W exm781064 9 127570165 [A/G] NM_182487 OLFML2A EXON Missense_R425Q exm781071 9 127572113 [T/C] NM_182487 OLFML2A EXON Missense_P461S exm781072 9 127572128 [A/G] NM_182487 OLFML2A EXON Missense_G466S exm781075 9 127572229 [A/G] NM_182487 OLFML2A EXON Nonsense_W499X exm2259154 9 127572304 [T/C] NM_182487 OLFML2A EXON Synonymous_A524A exm781085 9 127572311 [A/G] NM_182487 OLFML2A EXON Missense_E527K exm781100 9 127572549 [T/C] NM_182487 OLFML2A EXON Missense_T606M exm2266942 9 127589808 [A/G] exm781109 9 127615858 [A/C] NM_001276376,NM_001045476,NM_001276374,NM_001276375 WDR38,WDR38,WDR38,WDR38 EXON Silent,Missense_F16L,Missense_F16L,Missense_F16L exm2259155 9 127616537 [A/G] NM_001276376,NM_001045476,NM_001276374,NM_001276375 WDR38,WDR38,WDR38,WDR38 EXON Missense_K10R,Synonymous_E41E,Synonymous_E41E,Synonymous_E30E exm781122 9 127617931 [A/G] NM_001276376,NM_001045476,NM_001276374,NM_001276375 WDR38,WDR38,WDR38,WDR38 EXON Silent,Missense_R70H,Missense_R70H,Missense_R59H exm781126 9 127617963 [A/G] NM_001276376,NM_001045476,NM_001276374,NM_001276375 WDR38,WDR38,WDR38,WDR38 EXON Silent,Missense_A81T,Missense_A81T,Missense_A70T exm781135 9 127618182 [T/C] NM_001276376,NM_001045476,NM_001276374,NM_001276375 WDR38,WDR38,WDR38,WDR38 EXON Missense_S68L,Missense_S117L,Missense_S117L,Missense_S106L exm781137 9 127618187 [T/C] NM_001276376,NM_001045476,NM_001276374,NM_001276375 WDR38,WDR38,WDR38,WDR38 EXON Nonsense_Q70X,Nonsense_Q119X,Nonsense_Q119X,Nonsense_Q108X exm2183823 9 127618553 [A/G] NM_001276376,NM_001045476,NM_001276374,NM_001276375 WDR38,WDR38,WDR38,WDR38 EXON Missense_R98H,Missense_R147H,Missense_R147H,Missense_R136H exm781145 9 127618752 [T/C] NM_001276376,NM_001045476,NM_001276374,NM_001276375 WDR38,WDR38,WDR38,WDR38 EXON Missense_T115I,Missense_T164I,Missense_T164I,Missense_T153I exm781146 9 127618776 [A/G] NM_001276376,NM_001045476,NM_001276374,NM_001276375 WDR38,WDR38,WDR38,WDR38 EXON Missense_H123R,Missense_H172R,Missense_H172R,Missense_H161R exm781147 9 127618791 [A/G] NM_001276376,NM_001045476,NM_001276374,NM_001276375 WDR38,WDR38,WDR38,WDR38 EXON Missense_R128Q,Missense_R177Q,Missense_R177Q,Missense_R166Q exm781149 9 127618839 [G/C] NM_001276376,NM_001045476,NM_001276374,NM_001276375 WDR38,WDR38,WDR38,WDR38 EXON Missense_A144G,Missense_A193G,Missense_A193G,Missense_A182G exm781151 9 127618856 [T/G] NM_001276376,NM_001045476,NM_001276374,NM_001276375 WDR38,WDR38,WDR38,WDR38 EXON Missense_C150G,Missense_C199G,Missense_C199G,Missense_C188G exm781157 9 127619087 [A/C] NM_001276376,NM_001045476,NM_001276374,NM_001276375 WDR38,WDR38,WDR38,WDR38 EXON Missense_H183P,Missense_H232P,Missense_H232P,Missense_H221P exm2183827 9 127619097 [A/G] NM_001276376,NM_001045476,NM_001276374,NM_001276375 WDR38,WDR38,WDR38,WDR38 EXON Nonsense_W186X,Nonsense_W235X,Nonsense_W235X,Nonsense_W224X exm781163 9 127619143 [A/G] NM_001276376,NM_001045476,NM_001276374,NM_001276375 WDR38,WDR38,WDR38,WDR38 EXON Missense_A202T,Missense_A251T,Missense_A251T,Missense_A240T exm2183836 9 127619895 [A/G] NM_001276376,NM_001045476,NM_001276374,NM_001276375 WDR38,WDR38,WDR38,WDR38 EXON Missense_D263N,Missense_D311N,Missense_D312N,Missense_D301N exm2271147 9 127634429 [T/G] NM_030978 ARPC5L Silent exm781214 9 127635985 [A/G] NM_030978 ARPC5L EXON Missense_R55Q exm2247555 9 127639695 [T/C] NM_030978 ARPC5L EXON Silent exm781231 9 127642825 [T/C] NM_002077 GOLGA1 EXON Missense_R763Q exm781232 9 127642826 [A/G] NM_002077 GOLGA1 EXON Missense_R763W exm781243 9 127644179 [A/T] NM_002077 GOLGA1 EXON Missense_M674L exm781244 9 127644199 [T/C] NM_002077 GOLGA1 EXON Missense_R667Q exm781264 9 127651539 [G/C] NM_002077 GOLGA1 EXON Missense_E548D exm781277 9 127652727 [C/G] NM_002077 GOLGA1 EXON Missense_V480L exm781282 9 127660869 [A/G] NM_002077 GOLGA1 EXON Missense_R456C exm781287 9 127661645 [A/G] NM_002077 GOLGA1 EXON Missense_T425M exm781294 9 127661751 [T/C] NM_002077 GOLGA1 EXON Missense_A390T exm2183889 9 127661756 [A/G] NM_002077 GOLGA1 EXON Missense_A388V exm781302 9 127662748 [T/C] NM_002077 GOLGA1 EXON Missense_T382A exm781306 9 127670702 [A/G] NM_002077 GOLGA1 EXON Missense_A340V exm781307 9 127670712 [G/C] NM_002077 GOLGA1 EXON Missense_Q337E exm781308 9 127670745 [A/G] NM_002077 GOLGA1 EXON Missense_L326F exm781309 9 127674200 [A/C] NM_002077 GOLGA1 EXON Missense_L317V exm781314 9 127674268 [C/G] NM_002077 GOLGA1 EXON Missense_T294R exm781321 9 127683519 [T/C] NM_002077 GOLGA1 EXON Synonymous_R244R exm781323 9 127684074 [T/C] NM_002077 GOLGA1 EXON Missense_N220S exm781324 9 127684075 [T/G] NM_002077 GOLGA1 EXON Missense_N220H exm781343 9 127693601 [T/G] NM_002077 GOLGA1 EXON Missense_L74I exm781345 9 127693630 [T/C] NM_002077 GOLGA1 EXON Missense_N64S exm781350 9 127700882 [T/C] NM_002077 GOLGA1 EXON Missense_M37V exm781352 9 127700937 [A/C] NM_002077 GOLGA1 EXON Missense_R18S exm781360 9 127715169 [T/G] NM_001144877,NM_173690 SCAI,SCAI EXON Missense_H580N,Missense_H603N exm781365 9 127733958 [T/C] NM_001144877,NM_173690 SCAI,SCAI EXON Missense_R522H,Missense_R545H exm781368 9 127733988 [T/C] NM_001144877,NM_173690 SCAI,SCAI EXON Missense_R512H,Missense_R535H exm781400 9 127781208 [T/C] NM_001144877,NM_173690 SCAI,SCAI EXON Missense_N244S,Missense_N267S exm781405 9 127781473 [T/A] NM_001144877,NM_173690 SCAI,SCAI EXON Missense_D207E,Missense_D230E exm781408 9 127789106 [A/G] NM_001144877,NM_173690 SCAI,SCAI EXON Missense_V166A,Missense_V189A exm781418 9 127818276 [T/C] NM_001144877,NM_173690 SCAI,SCAI EXON Missense_A37T,Missense_A60T exm-rs1549314 9 127910307 [T/G] NM_001123369,NM_001123355,NM_002721 PPP6C,PPP6C,PPP6C EXON Silent,Silent,Silent exm781452 9 127923128 [T/C] NM_001123369,NM_001123355,NM_002721 PPP6C,PPP6C,PPP6C EXON Silent,Missense_I114V,Missense_I77V exm781484 9 127975654 [T/C] NM_001174152,NM_001174153,NM_005833 RABEPK,RABEPK,RABEPK EXON Missense_H73Y,Silent,Missense_H73Y exm781485 9 127975693 [T/C] NM_001174152,NM_001174153,NM_005833 RABEPK,RABEPK,RABEPK EXON Missense_R86W,Silent,Missense_R86W exm781487 9 127975721 [C/G] NM_001174152,NM_001174153,NM_005833 RABEPK,RABEPK,RABEPK EXON Missense_S95C,Silent,Missense_S95C exm781491 9 127975774 [T/C] NM_001174152,NM_001174153,NM_005833 RABEPK,RABEPK,RABEPK EXON Nonsense_R113X,Silent,Nonsense_R113X exm781492 9 127975775 [A/G] NM_001174152,NM_001174153,NM_005833 RABEPK,RABEPK,RABEPK EXON Missense_R113Q,Silent,Missense_R113Q exm2259157 9 127982837 [A/G] NM_001174152,NM_001174153,NM_005833 RABEPK,RABEPK,RABEPK EXON Synonymous_T128T,Synonymous_T77T,Synonymous_T128T exm781497 9 127982839 [A/C] NM_001174152,NM_001174153,NM_005833 RABEPK,RABEPK,RABEPK EXON Missense_P129Q,Missense_P78Q,Missense_P129Q exm781498 9 127982859 [C/G] NM_001174152,NM_001174153,NM_005833 RABEPK,RABEPK,RABEPK EXON Missense_P136A,Missense_P85A,Missense_P136A exm781512 9 127990240 [A/G] NM_001174152,NM_001174153,NM_005833 RABEPK,RABEPK,RABEPK EXON Missense_R193Q,Missense_R142Q,Missense_R193Q exm781513 9 127990266 [A/G] NM_001174152,NM_001174153,NM_005833 RABEPK,RABEPK,RABEPK EXON Missense_G202R,Missense_G151R,Missense_G202R exm781518 9 127994947 [T/C] NM_001174152,NM_001174153,NM_005833 RABEPK,RABEPK,RABEPK EXON Missense_A250V,Missense_A199V,Missense_A250V exm781524 9 127995995 [T/G] NM_001174152,NM_001174153,NM_005833 RABEPK,RABEPK,RABEPK EXON Missense_F285L,Missense_F234L,Missense_F285L exm781528 9 127996086 [T/C] NM_001174152,NM_001174153,NM_005833 RABEPK,RABEPK,RABEPK EXON Missense_S316P,Missense_S265P,Missense_S316P exm781529 9 127996103 [T/G] NM_001174152,NM_001174153,NM_005833 RABEPK,RABEPK,RABEPK EXON Missense_H321Q,Missense_H270Q,Missense_H321Q exm781533 9 127996242 [A/G] NM_001174152,NM_001174153,NM_005833 RABEPK,RABEPK,RABEPK EXON Missense_V368M,Missense_V317M,Missense_V368M exm781542 9 127999166 [T/C] NM_005347 HSPA5 EXON Missense_E557G exm781546 9 127999249 [A/G] NM_005347 HSPA5 EXON Synonymous_D529D exm2259158 9 127999249 [A/G] NM_005347 HSPA5 EXON Synonymous_D529D exm781622 9 128064926 [A/G] NM_015635 GAPVD1 EXON Missense_V284M exm781635 9 128069815 [G/C] NM_015635 GAPVD1 EXON Missense_L414V exm781640 9 128070083 [A/C] NM_015635 GAPVD1 EXON Missense_L455F exm781642 9 128070100 [A/G] NM_015635 GAPVD1 EXON Missense_N461S exm781643 9 128070136 [A/G] NM_015635 GAPVD1 EXON Missense_N473S exm781653 9 128074787 [A/G] NM_015635 GAPVD1 EXON Missense_G500R exm781659 9 128083731 [T/C] NM_015635 GAPVD1 EXON Missense_S541L exm781663 9 128086101 [T/C] NM_015635 GAPVD1 EXON Missense_V586A exm781672 9 128094232 [A/G] NM_015635 GAPVD1 EXON Missense_R734H exm781679 9 128097520 [A/T] NM_015635 GAPVD1 EXON Missense_Q833L exm781684 9 128099572 [T/C] NM_015635 GAPVD1 EXON Missense_L887P exm781688 9 128099707 [T/C] NM_015635 GAPVD1 EXON Missense_I932T exm781694 9 128099755 [A/G] NM_015635 GAPVD1 EXON Missense_R948H exm781696 9 128099784 [T/C] NM_015635 GAPVD1 EXON Missense_P958S exm781697 9 128099823 [T/C] NM_015635 GAPVD1 EXON Missense_P971S exm781699 9 128099865 [A/G] NM_015635 GAPVD1 EXON Missense_G985R exm781704 9 128104528 [A/C] NM_015635 GAPVD1 EXON Missense_Q1026P exm2247562 9 128111670 [A/G] NM_015635 GAPVD1 EXON Synonymous_E1084E exm781712 9 128111684 [T/G] NM_015635 GAPVD1 EXON Missense_G1089V exm781718 9 128112578 [T/G] NM_015635 GAPVD1 EXON Missense_A1129S exm781723 9 128113096 [T/C] NM_015635 GAPVD1 EXON Missense_R1199C exm781761 9 128206872 [T/C] NM_001006620,NM_024117,NM_001006617,NM_001006619,NM_001006621 MAPKAP1,MAPKAP1,MAPKAP1,MAPKAP1,MAPKAP1 EXON Missense_A259T,Missense_A415T,Missense_A451T,Missense_A404T,Missense_A259T exm781790 9 128321981 [T/C] NM_001006620,NM_024117,NM_001006617,NM_001006619,NM_001006621,NM_001006618 MAPKAP1,MAPKAP1,MAPKAP1,MAPKAP1,MAPKAP1,MAPKAP1 EXON Missense_S68N,Missense_S260N,Missense_S260N,Missense_S260N,Missense_S68N,Missense_S260N exm781801 9 128347913 [T/C] NM_001006620,NM_024117,NM_001006617,NM_001006619,NM_001006621,NM_001006618 MAPKAP1,MAPKAP1,MAPKAP1,MAPKAP1,MAPKAP1,MAPKAP1 EXON Missense_M6V,Missense_M198V,Missense_M198V,Missense_M198V,Missense_M6V,Missense_M198V exm781805 9 128347928 [T/C] NM_001006620,NM_024117,NM_001006617,NM_001006619,NM_001006621,NM_001006618 MAPKAP1,MAPKAP1,MAPKAP1,MAPKAP1,MAPKAP1,MAPKAP1 EXON Missense_M1V,Missense_M193V,Missense_M193V,Missense_M193V,Missense_M1V,Missense_M193V exm2266874 9 128369224 [A/G] NM_001006620,NM_024117,NM_001006617,NM_001006619,NM_001006621,NM_001006618 MAPKAP1,MAPKAP1,MAPKAP1,MAPKAP1,MAPKAP1,MAPKAP1 Silent,Silent,Silent,Silent,Silent,Silent exm781822 9 128434810 [T/C] NM_001006620,NM_024117,NM_001006617,NM_001006619,NM_001006621,NM_001006618 MAPKAP1,MAPKAP1,MAPKAP1,MAPKAP1,MAPKAP1,MAPKAP1 EXON Silent,Missense_R15Q,Missense_R15Q,Missense_R15Q,Silent,Missense_R15Q exm781823 9 128434832 [T/C] NM_001006620,NM_024117,NM_001006617,NM_001006619,NM_001006621,NM_001006618 MAPKAP1,MAPKAP1,MAPKAP1,MAPKAP1,MAPKAP1,MAPKAP1 EXON Silent,Missense_T8A,Missense_T8A,Missense_T8A,Silent,Missense_T8A exm781845 9 128678097 [T/C] NM_006195,NR_024123,NR_024122,NM_001134778 PBX3,PBX3,PBX3,PBX3 EXON Missense_A136V,Silent,Silent,Missense_A61V exm781860 9 128723127 [T/C] NM_006195,NR_024123,NR_024122,NM_001134778 PBX3,PBX3,PBX3,PBX3 EXON Synonymous_S336S,Silent,Silent,Synonymous_S261S exm781868 9 128725351 [A/G] NM_006195,NR_024123,NR_024122,NM_001134778 PBX3,PBX3,PBX3,PBX3 EXON Missense_N395D,Silent,Silent,Missense_N320D exm781869 9 128725358 [T/C] NM_006195,NR_024123,NR_024122,NM_001134778 PBX3,PBX3,PBX3,PBX3 EXON Missense_L397P,Silent,Silent,Missense_L322P exm2184107 9 128725366 [T/C] NM_006195,NR_024123,NR_024122,NM_001134778 PBX3,PBX3,PBX3,PBX3 EXON Missense_P400S,Silent,Silent,Missense_P325S exm2271224 9 128739400 [T/C] exm2271148 9 128843105 [T/C] exm-rs888219 9 128929023 [A/C] exm2259162 9 129102906 [T/C] NM_001011703,NM_033446 MVB12B,MVB12B EXON Synonymous_D67D,Synonymous_D67D exm781900 9 129148916 [A/G] NM_001011703,NM_033446 MVB12B,MVB12B EXON Missense_I130V,Missense_I130V exm2259163 9 129157872 [A/G] NM_001011703,NM_033446 MVB12B,MVB12B EXON Synonymous_G186G,Synonymous_G186G exm781913 9 129157880 [T/A] NM_001011703,NM_033446 MVB12B,MVB12B EXON Missense_Y189F,Missense_Y189F exm781948 9 129377850 [T/C] NM_001174147,NM_001174146,NM_002316 LMX1B,LMX1B,LMX1B Silent,Silent,Silent exm2271149 9 129408290 [T/C] NM_001174147,NM_001174146,NM_002316 LMX1B,LMX1B,LMX1B Silent,Silent,Silent exm2259165 9 129458673 [T/C] NM_001174147,NM_001174146,NM_002316 LMX1B,LMX1B,LMX1B EXON Synonymous_R384R,Synonymous_R388R,Synonymous_R377R exm781998 9 129458692 [T/C] NM_001174147,NM_001174146,NM_002316 LMX1B,LMX1B,LMX1B EXON Missense_R391W,Missense_R395W,Missense_R384W exm-rs867559 9 129465325 [A/G] exm782016 9 129595239 [G/C] NM_014007,NM_001135776 ZBTB43,ZBTB43 EXON Missense_L151V,Missense_L151V exm782024 9 129595385 [A/G] NM_014007,NM_001135776 ZBTB43,ZBTB43 EXON Synonymous_S199S,Synonymous_S199S exm2259166 9 129595385 [A/G] NM_014007,NM_001135776 ZBTB43,ZBTB43 EXON Synonymous_S199S,Synonymous_S199S exm782026 9 129595402 [A/G] NM_014007,NM_001135776 ZBTB43,ZBTB43 EXON Missense_R205H,Missense_R205H exm782036 9 129595581 [A/G] NM_014007,NM_001135776 ZBTB43,ZBTB43 EXON Missense_D265N,Missense_D265N exm782044 9 129595675 [A/G] NM_014007,NM_001135776 ZBTB43,ZBTB43 EXON Missense_K296R,Missense_K296R exm2271150 9 129613454 [T/G] exm782092 9 129642645 [T/C] NM_001099270 ZBTB34 EXON Missense_R319C exm782093 9 129642648 [T/G] NM_001099270 ZBTB34 EXON Missense_A320S exm782096 9 129642663 [T/G] NM_001099270 ZBTB34 EXON Missense_A325S exm-rs518116 9 129715736 [A/G] NM_014636,NM_001190730,NM_001190729 RALGPS1,RALGPS1,RALGPS1 Silent,Silent,Silent exm2184168 9 129728123 [T/G] NM_014636,NM_001190730,NM_001190729,NM_001190728 RALGPS1,RALGPS1,RALGPS1,RALGPS1 EXON Missense_G20C,Missense_G20C,Missense_G20C,Missense_G20C exm782134 9 129831582 [A/G] NM_014636,NM_001190730,NM_001190729,NM_001190728 RALGPS1,RALGPS1,RALGPS1,RALGPS1 EXON Missense_R186Q,Missense_R186Q,Missense_R186Q,Missense_R186Q exm782155 9 129854069 [A/G] NM_014636,NM_001190730,NM_001190729,NM_001190728,NM_012098 RALGPS1,RALGPS1,RALGPS1,RALGPS1,ANGPTL2 EXON Silent,Silent,Silent,Silent,Missense_P388S exm782157 9 129854107 [T/C] NM_014636,NM_001190730,NM_001190729,NM_001190728,NM_012098 RALGPS1,RALGPS1,RALGPS1,RALGPS1,ANGPTL2 EXON Silent,Silent,Silent,Silent,Missense_R375H exm782169 9 129856101 [T/C] NM_014636,NM_001190730,NM_001190729,NM_001190728,NM_012098 RALGPS1,RALGPS1,RALGPS1,RALGPS1,ANGPTL2 EXON Silent,Silent,Silent,Silent,Missense_D308N exm2184188 9 129870206 [T/C] NM_014636,NM_001190730,NM_001190729,NM_001190728,NM_012098 RALGPS1,RALGPS1,RALGPS1,RALGPS1,ANGPTL2 EXON Silent,Silent,Silent,Silent,Missense_D269N exm782183 9 129870347 [A/G] NM_014636,NM_001190730,NM_001190729,NM_001190728,NM_012098 RALGPS1,RALGPS1,RALGPS1,RALGPS1,ANGPTL2 EXON Silent,Silent,Silent,Silent,Missense_P222S exm782213 9 129870935 [T/C] NM_014636,NM_001190730,NM_001190729,NM_001190728,NM_012098 RALGPS1,RALGPS1,RALGPS1,RALGPS1,ANGPTL2 EXON Silent,Silent,Silent,Silent,Missense_G26S exm782223 9 129928484 [T/C] NM_014636,NM_001190730,NM_001190729,NM_001190728 RALGPS1,RALGPS1,RALGPS1,RALGPS1 EXON Synonymous_Y249Y,Synonymous_Y249Y,Synonymous_Y249Y,Synonymous_Y249Y exm782225 9 129937020 [A/G] NM_014636,NM_001190730,NM_001190729,NM_001190728 RALGPS1,RALGPS1,RALGPS1,RALGPS1 EXON Missense_S290N,Missense_S290N,Missense_S290N,Missense_S290N exm782233 9 129957451 [T/C] NM_014636,NM_001190729,NM_001190728 RALGPS1,RALGPS1,RALGPS1 EXON Missense_T331I,Missense_T331I,Missense_T331I exm782240 9 129958862 [T/G] NM_014636,NM_001190729,NM_001190728 RALGPS1,RALGPS1,RALGPS1 EXON Missense_G383C,Silent,Silent exm782252 9 129974998 [T/C] NM_014636,NM_001190729,NM_001190728 RALGPS1,RALGPS1,RALGPS1 EXON Synonymous_H482H,Synonymous_H440H,Synonymous_H440H exm2266943 9 129984107 [A/G] NM_014636 RALGPS1 EXON Silent exm782266 9 130027260 [G/C] NM_032293 GARNL3 EXON Missense_R35P exm2247567 9 130075816 [A/G] NM_032293 GARNL3 EXON Missense_R139H exm782306 9 130100419 [A/G] NM_032293 GARNL3 EXON Missense_N336S exm782318 9 130104555 [A/G] NM_032293 GARNL3 EXON Missense_R398H exm782321 9 130104605 [A/T] NM_032293 GARNL3 EXON Missense_L415M exm-rs4130590 9 130107964 [A/G] NM_032293 GARNL3 Silent exm782340 9 130116145 [A/G] NM_032293 GARNL3 EXON Missense_V522M exm782350 9 130116688 [A/C] NM_032293 GARNL3 EXON Missense_K586N exm782355 9 130117609 [A/G] NM_032293 GARNL3 EXON Missense_S598N exm782358 9 130117725 [T/C] NM_032293 GARNL3 EXON Missense_P637S exm782361 9 130119549 [A/G] NM_032293 GARNL3 EXON Missense_A663T exm782373 9 130145809 [T/G] NM_032293 GARNL3 EXON Missense_A752S exm782399 9 130152926 [T/C] NM_032293 GARNL3 EXON Missense_S917L exm782404 9 130152979 [T/C] NM_032293 GARNL3 EXON Missense_R935W exm782405 9 130152986 [A/G] NM_032293 GARNL3 EXON Missense_R937Q exm782439 9 130162220 [A/G] NM_014580,NM_001271712,NM_001271711,NR_073416 SLC2A8,SLC2A8,SLC2A8,SLC2A8 EXON Missense_R154Q,Silent,Missense_R154Q,Silent exm782448 9 130164887 [T/C] NM_014580,NM_001271712,NM_001271711,NR_073416 SLC2A8,SLC2A8,SLC2A8,SLC2A8 EXON Missense_S193F,Missense_S30F,Missense_S193F,Silent exm782460 9 130165973 [T/C] NM_014580,NM_001271712,NM_001271711,NR_073416 SLC2A8,SLC2A8,SLC2A8,SLC2A8 EXON Missense_I253T,Missense_I90T,Missense_I253T,Silent exm782463 9 130165993 [A/G] NM_014580,NM_001271712,NM_001271711,NR_073416 SLC2A8,SLC2A8,SLC2A8,SLC2A8 EXON Missense_G260S,Missense_G97S,Missense_G260S,Silent exm782466 9 130166017 [T/C] NM_014580,NM_001271712,NM_001271711,NR_073416 SLC2A8,SLC2A8,SLC2A8,SLC2A8 EXON Nonsense_Q268X,Nonsense_Q105X,Nonsense_Q268X,Silent exm782468 9 130166024 [T/C] NM_014580,NM_001271712,NM_001271711,NR_073416 SLC2A8,SLC2A8,SLC2A8,SLC2A8 EXON Missense_S270L,Missense_S107L,Missense_S270L,Silent exm782480 9 130166296 [T/C] NM_014580,NM_001271712,NM_001271711,NR_073416 SLC2A8,SLC2A8,SLC2A8,SLC2A8 EXON Missense_A309V,Missense_A146V,Missense_A309V,Silent exm782495 9 130167243 [A/G] NM_014580,NM_001271712,NM_001271711,NR_073416 SLC2A8,SLC2A8,SLC2A8,SLC2A8 EXON Missense_V375M,Missense_V212M,Missense_V375M,Silent exm782496 9 130167247 [A/G] NM_014580,NM_001271712,NM_001271711,NR_073416 SLC2A8,SLC2A8,SLC2A8,SLC2A8 EXON Missense_G376D,Missense_G213D,Missense_G376D,Silent exm782500 9 130167705 [T/C] NM_014580,NM_001271712,NM_001271711,NR_073416 SLC2A8,SLC2A8,SLC2A8,SLC2A8 EXON Missense_A386V,Missense_A223V,Silent,Silent exm782505 9 130167770 [A/G] NM_014580,NM_001271712,NM_001271711,NR_073416 SLC2A8,SLC2A8,SLC2A8,SLC2A8 EXON Missense_V408M,Missense_V245M,Silent,Silent exm782507 9 130167787 [C/G] NM_014580,NM_001271712,NM_001271711,NR_073416 SLC2A8,SLC2A8,SLC2A8,SLC2A8 EXON Missense_C413W,Missense_C250W,Silent,Silent exm782508 9 130167788 [A/G] NM_014580,NM_001271712,NM_001271711,NR_073416 SLC2A8,SLC2A8,SLC2A8,SLC2A8 EXON Missense_V414I,Missense_V251I,Silent,Silent exm782510 9 130167800 [T/C] NM_014580,NM_001271712,NM_001271711,NR_073416 SLC2A8,SLC2A8,SLC2A8,SLC2A8 EXON Missense_W418R,Missense_W255R,Silent,Silent exm782512 9 130167818 [A/G] NM_014580,NM_001271712,NM_001271711,NR_073416 SLC2A8,SLC2A8,SLC2A8,SLC2A8 EXON Missense_V424M,Missense_V261M,Silent,Silent exm782517 9 130169465 [A/C] NM_014580,NM_001271712,NM_001271711,NR_073416 SLC2A8,SLC2A8,SLC2A8,SLC2A8 EXON Missense_F457L,Missense_F294L,Missense_L409M,Silent exm-rs10819291 9 130186700 [T/C] NM_007135 ZNF79 EXON Silent exm782528 9 130191186 [T/C] NM_007135 ZNF79 EXON Missense_T31I exm782529 9 130191194 [T/C] NM_007135 ZNF79 EXON Missense_P34S exm782533 9 130197400 [G/C] NM_007135 ZNF79 EXON Missense_A46G exm782534 9 130197414 [A/G] NM_007135 ZNF79 EXON Missense_R51G exm2259170 9 130197428 [T/C] NM_007135 ZNF79 EXON Synonymous_L55L exm782537 9 130197441 [T/C] NM_007135 ZNF79 EXON Missense_R60W exm782538 9 130197442 [A/G] NM_007135 ZNF79 EXON Missense_R60Q exm2184333 9 130206310 [T/C] NM_007135 ZNF79 EXON Missense_W111R exm782552 9 130206442 [A/C] NM_007135 ZNF79 EXON Missense_P155T exm782555 9 130206472 [A/G] NM_007135 ZNF79 EXON Missense_V165M exm782556 9 130206475 [A/G] NM_007135 ZNF79 EXON Missense_E166K exm782562 9 130206524 [T/C] NM_007135 ZNF79 EXON Missense_S182L exm782572 9 130206785 [A/G] NM_007135 ZNF79 EXON Missense_R269Q exm782581 9 130206903 [A/C] NM_007135 ZNF79 EXON Missense_S308R exm782592 9 130207072 [A/G] NM_007135 ZNF79 EXON Missense_A365T exm2184340 9 130207408 [A/G] NM_007135 ZNF79 EXON Missense_E477K exm782606 9 130207454 [A/C] NM_007135 ZNF79 EXON Missense_Q492P exm782612 9 130210156 [A/G] NM_000976 RPL12 EXON Synonymous_A164A exm782638 9 130211635 [T/C] NM_000976 RPL12 EXON Missense_V73M exm782659 9 130217298 [A/G] NM_001190723,NM_001005373,NM_138361,NM_001005374 LRSAM1,LRSAM1,LRSAM1,LRSAM1 EXON Missense_D32N,Missense_D32N,Missense_D32N,Missense_D32N exm782671 9 130221297 [A/G] NM_001190723,NM_001005373,NM_138361,NM_001005374 LRSAM1,LRSAM1,LRSAM1,LRSAM1 EXON Missense_D90N,Missense_D90N,Missense_D90N,Missense_D90N exm782679 9 130223480 [T/C] NM_001190723,NM_001005373,NM_138361,NM_001005374 LRSAM1,LRSAM1,LRSAM1,LRSAM1 EXON Missense_M117T,Missense_M117T,Missense_M117T,Missense_M117T exm782686 9 130224585 [A/C] NM_001190723,NM_001005373,NM_138361,NM_001005374 LRSAM1,LRSAM1,LRSAM1,LRSAM1 EXON Missense_T154N,Missense_T154N,Missense_T154N,Missense_T154N exm782688 9 130224593 [A/G] NM_001190723,NM_001005373,NM_138361,NM_001005374 LRSAM1,LRSAM1,LRSAM1,LRSAM1 EXON Missense_I157V,Missense_I157V,Missense_I157V,Missense_I157V exm782693 9 130224621 [T/C] NM_001190723,NM_001005373,NM_138361,NM_001005374 LRSAM1,LRSAM1,LRSAM1,LRSAM1 EXON Missense_P166L,Missense_P166L,Missense_P166L,Missense_P166L exm782697 9 130230038 [T/C] NM_001190723,NM_001005373,NM_138361,NM_001005374 LRSAM1,LRSAM1,LRSAM1,LRSAM1 EXON Missense_S183L,Missense_S183L,Missense_S183L,Missense_S183L exm782699 9 130230059 [A/G] NM_001190723,NM_001005373,NM_138361,NM_001005374 LRSAM1,LRSAM1,LRSAM1,LRSAM1 EXON Missense_R190Q,Missense_R190Q,Missense_R190Q,Missense_R190Q exm782701 9 130230076 [A/G] NM_001190723,NM_001005373,NM_138361,NM_001005374 LRSAM1,LRSAM1,LRSAM1,LRSAM1 EXON Missense_G196S,Missense_G196S,Missense_G196S,Missense_G196S exm782717 9 130241695 [T/C] NM_001190723,NM_001005373,NM_138361,NM_001005374 LRSAM1,LRSAM1,LRSAM1,LRSAM1 EXON Missense_R272W,Missense_R272W,Missense_R272W,Missense_R272W exm782727 9 130242131 [T/G] NM_001190723,NM_001005373,NM_138361,NM_001005374 LRSAM1,LRSAM1,LRSAM1,LRSAM1 EXON Missense_L306R,Missense_L306R,Missense_L306R,Missense_L306R exm782728 9 130242166 [A/G] NM_001190723,NM_001005373,NM_138361,NM_001005374 LRSAM1,LRSAM1,LRSAM1,LRSAM1 EXON Missense_N318D,Missense_N318D,Missense_N318D,Missense_N318D exm782730 9 130242179 [A/G] NM_001190723,NM_001005373,NM_138361,NM_001005374 LRSAM1,LRSAM1,LRSAM1,LRSAM1 EXON Missense_Q322R,Missense_Q322R,Missense_Q322R,Missense_Q322R exm782745 9 130248080 [C/G] NM_001190723,NM_001005373,NM_138361,NM_001005374 LRSAM1,LRSAM1,LRSAM1,LRSAM1 EXON Missense_Q409E,Missense_Q409E,Missense_Q409E,Missense_Q409E exm782748 9 130249974 [T/C] NM_001190723,NM_001005373,NM_138361,NM_001005374 LRSAM1,LRSAM1,LRSAM1,LRSAM1 EXON Nonsense_R427X,Nonsense_R427X,Nonsense_R427X,Nonsense_R427X exm2184409 9 130251757 [T/A] NM_001190723,NM_001005373,NM_138361,NM_001005374 LRSAM1,LRSAM1,LRSAM1,LRSAM1 EXON Missense_Q461L,Missense_Q461L,Missense_Q461L,Missense_Q461L exm782766 9 130257600 [T/C] NM_001190723,NM_001005373,NM_138361,NM_001005374 LRSAM1,LRSAM1,LRSAM1,LRSAM1 EXON Missense_T507M,Missense_T534M,Missense_T534M,Missense_T534M exm782778 9 130258316 [T/C] NM_001190723,NM_001005373,NM_138361,NM_001005374 LRSAM1,LRSAM1,LRSAM1,LRSAM1 EXON Missense_A564V,Missense_A591V,Missense_A591V,Missense_A591V exm782779 9 130258324 [T/C] NM_001190723,NM_001005373,NM_138361,NM_001005374 LRSAM1,LRSAM1,LRSAM1,LRSAM1 EXON Missense_R567C,Missense_R594C,Missense_R594C,Missense_R594C exm782792 9 130263306 [A/G] NM_001190723,NM_001005373,NM_138361,NM_001005374 LRSAM1,LRSAM1,LRSAM1,LRSAM1 EXON Missense_G617S,Missense_G644S,Missense_G644S,Missense_G644S exm782795 9 130263351 [A/G] NM_001190723,NM_001005373,NM_138361,NM_001005374 LRSAM1,LRSAM1,LRSAM1,LRSAM1 EXON Missense_V632M,Missense_V659M,Missense_V659M,Missense_V659M exm782797 9 130263366 [T/C] NM_001190723,NM_001005373,NM_138361,NM_001005374 LRSAM1,LRSAM1,LRSAM1,LRSAM1 EXON Missense_P637S,Missense_P664S,Missense_P664S,Missense_P664S exm782798 9 130263418 [A/G] NM_001190723,NM_001005373,NM_138361,NM_001005374 LRSAM1,LRSAM1,LRSAM1,LRSAM1 EXON Missense_R654Q,Missense_R681Q,Missense_R681Q,Missense_R681Q exm782803 9 130265116 [T/C] NM_001190723,NM_001005373,NM_138361,NM_001005374 LRSAM1,LRSAM1,LRSAM1,LRSAM1 EXON Missense_R677C,Missense_R704C,Missense_R704C,Missense_R704C exm782804 9 130265117 [A/G] NM_001190723,NM_001005373,NM_138361,NM_001005374 LRSAM1,LRSAM1,LRSAM1,LRSAM1 EXON Missense_R677H,Missense_R704H,Missense_R704H,Missense_R704H exm782812 9 130269174 [T/C] NM_022833,NM_001035534 FAM129B,FAM129B EXON Missense_A731T,Missense_A718T exm2184433 9 130269249 [G/C] NM_022833,NM_001035534 FAM129B,FAM129B EXON Missense_A706P,Missense_A693P exm782815 9 130269273 [C/G] NM_022833,NM_001035534 FAM129B,FAM129B EXON Missense_L698V,Missense_L685V exm782825 9 130269474 [T/C] NM_022833,NM_001035534 FAM129B,FAM129B EXON Missense_V631M,Missense_V618M exm782830 9 130269545 [C/G] NM_022833,NM_001035534 FAM129B,FAM129B EXON Missense_P607R,Missense_P594R exm782836 9 130269576 [T/C] NM_022833,NM_001035534 FAM129B,FAM129B EXON Missense_G597S,Missense_G584S exm782883 9 130272445 [T/C] NM_022833,NM_001035534 FAM129B,FAM129B EXON Missense_G381S,Missense_G368S exm782890 9 130279168 [T/G] NM_022833,NM_001035534 FAM129B,FAM129B EXON Missense_T314N,Missense_T301N exm782894 9 130279206 [T/C] NM_022833,NM_001035534 FAM129B,FAM129B EXON Missense_M301I,Missense_M288I exm782897 9 130279255 [A/G] NM_022833,NM_001035534 FAM129B,FAM129B EXON Missense_A285V,Missense_A272V exm782898 9 130279256 [T/C] NM_022833,NM_001035534 FAM129B,FAM129B EXON Missense_A285T,Missense_A272T exm782902 9 130279279 [T/C] NM_022833,NM_001035534 FAM129B,FAM129B EXON Missense_H277R,Missense_H264R exm782910 9 130279411 [A/G] NM_022833,NM_001035534 FAM129B,FAM129B EXON Missense_R264W,Missense_R251W exm782918 9 130286044 [T/C] NM_022833,NM_001035534 FAM129B,FAM129B EXON Missense_R168H,Missense_R155H exm782919 9 130286045 [A/G] NM_022833,NM_001035534 FAM129B,FAM129B EXON Missense_R168C,Missense_R155C exm782925 9 130286110 [A/G] NM_022833,NM_001035534 FAM129B,FAM129B EXON Missense_S146L,Missense_S133L exm782933 9 130287411 [A/G] NM_022833,NM_001035534 FAM129B,FAM129B EXON Missense_V116A,Missense_V103A exm782934 9 130287412 [T/C] NM_022833,NM_001035534 FAM129B,FAM129B EXON Missense_V116I,Missense_V103I exm782937 9 130287426 [A/C] NM_022833,NM_001035534 FAM129B,FAM129B EXON Missense_V111G,Missense_V98G exm782952 9 130289592 [T/C] NM_022833,NM_001035534 FAM129B,FAM129B EXON Missense_D66N,Missense_D53N exm2271151 9 130323485 [T/G] NM_022833,NM_001035534 FAM129B,FAM129B Silent,Silent exm782978 9 130422312 [A/G] NM_003165,NM_001032221 STXBP1,STXBP1 EXON Missense_V84I,Missense_V84I exm782980 9 130422343 [T/C] NM_003165,NM_001032221 STXBP1,STXBP1 EXON Missense_P94L,Missense_P94L exm2184503 9 130425565 [T/C] NM_003165,NM_001032221 STXBP1,STXBP1 EXON Missense_R171C,Missense_R171C exm783020 9 130439024 [A/G] NM_003165,NM_001032221 STXBP1,STXBP1 EXON Missense_V451I,Missense_V451I exm783025 9 130444685 [T/C] NM_003165,NM_001032221 STXBP1,STXBP1 EXON Synonymous_S516S,Synonymous_S516S exm783035 9 130446748 [A/G] NM_003165,NM_001032221 STXBP1,STXBP1 EXON Missense_M602V,Silent exm783043 9 130469384 [T/C] NM_001012502 C9orf117 EXON Missense_P25L exm783045 9 130469387 [T/C] NM_001012502 C9orf117 EXON Missense_V26A exm783052 9 130471764 [T/G] NM_001012502 C9orf117 EXON Missense_Q75H exm783053 9 130471772 [A/G] NM_001012502 C9orf117 EXON Missense_N78S exm783067 9 130471964 [T/C] NM_001012502 C9orf117 EXON Missense_I142T exm2184543 9 130472880 [C/G] NM_001012502 C9orf117 EXON Missense_G145A exm783069 9 130472886 [A/G] NM_001012502 C9orf117 EXON Missense_K147R exm783074 9 130472993 [A/G] NM_001012502 C9orf117 EXON Missense_A183T exm783079 9 130473533 [A/G] NM_001012502 C9orf117 EXON Missense_V205M exm2184546 9 130473596 [T/C] NM_001012502 C9orf117 EXON Missense_R226W exm783085 9 130473695 [T/C] NM_001012502 C9orf117 EXON Nonsense_Q259X exm783088 9 130474100 [A/T] NM_001012502 C9orf117 EXON Missense_I286N exm783091 9 130474193 [G/C] NM_001012502 C9orf117 EXON Missense_R317T exm783101 9 130474534 [A/G] NM_001012502 C9orf117 EXON Missense_R348Q exm783104 9 130474997 [A/G] NM_001012502 C9orf117 EXON Missense_D383N exm783114 9 130475312 [T/C] NM_001012502 C9orf117 EXON Nonsense_Q440X exm783121 9 130475442 [A/C] NM_001012502 C9orf117 EXON Missense_Y483S exm783123 9 130475480 [T/C] NM_001012502 C9orf117 EXON Missense_P496S exm783125 9 130476174 [A/G] NM_001012502 C9orf117 EXON Missense_R518H exm783126 9 130476182 [T/C] NM_001012502 C9orf117 EXON Missense_X521Q exm783131 9 130476383 [A/G] NM_001002913 PTRH1 EXON Missense_P214L exm783134 9 130476443 [T/C] NM_001002913 PTRH1 EXON Missense_R194Q exm2247579 9 130476687 [A/G] NM_001002913 PTRH1 EXON Missense_R145C exm783146 9 130476701 [A/C] NM_001002913 PTRH1 EXON Missense_G140V exm783165 9 130477869 [T/A] NM_001002913 PTRH1 EXON Missense_M17K exm783173 9 130478427 [A/G] NM_144965 TTC16 EXON Missense_M1I exm783177 9 130479190 [A/G] NM_144965 TTC16 EXON Missense_K29R exm783178 9 130479205 [A/C] NM_144965 TTC16 EXON Missense_H34P exm783179 9 130479210 [T/G] NM_144965 TTC16 EXON Missense_F36V exm783186 9 130479638 [A/G] NM_144965 TTC16 EXON Missense_E73K exm2184576 9 130479914 [T/C] NM_144965 TTC16 EXON Missense_F97L exm783192 9 130479968 [A/G] NM_144965 TTC16 EXON Missense_A115T exm783194 9 130479981 [A/G] NM_144965 TTC16 EXON Missense_R119Q exm783196 9 130480025 [T/C] NM_144965 TTC16 EXON Missense_R134C exm783206 9 130482613 [A/T] NM_144965 TTC16 EXON Missense_Q199L exm783209 9 130482646 [A/G] NM_144965 TTC16 EXON Missense_R210Q exm783210 9 130485448 [C/G] NM_144965 TTC16 EXON Missense_K236N exm783212 9 130485476 [A/C] NM_144965 TTC16 EXON Missense_K246Q exm783220 9 130485555 [A/G] NM_144965 TTC16 EXON Missense_Q272R exm783227 9 130486412 [T/C] NM_144965 TTC16 EXON Nonsense_R296X exm783233 9 130486469 [T/G] NM_144965 TTC16 EXON Missense_V315L exm783236 9 130486475 [A/G] NM_144965 TTC16 EXON Missense_E317K exm783251 9 130487133 [A/G] NM_144965 TTC16 EXON Missense_G406S exm783252 9 130487157 [T/G] NM_144965 TTC16 EXON Missense_F414V exm2184596 9 130488531 [A/G] NM_144965 TTC16 EXON Missense_A425T exm2184597 9 130488605 [A/C] NM_144965 TTC16 EXON Missense_S449R exm783260 9 130488607 [A/G] NM_144965 TTC16 EXON Missense_R450Q exm783263 9 130488631 [C/G] NM_144965 TTC16 EXON Missense_G458A exm783270 9 130489375 [G/C] NM_144965 TTC16 EXON Missense_P518A exm783274 9 130489560 [C/G] NM_144965 TTC16 EXON Missense_R527P exm783276 9 130489574 [T/C] NM_144965 TTC16 EXON Missense_R532C exm783290 9 130489743 [A/G] NM_144965 TTC16 EXON Missense_E588G exm783295 9 130491917 [A/G] NM_144965 TTC16 EXON Missense_D608N exm2184608 9 130492981 [T/C] NM_144965 TTC16 EXON Missense_A640V exm783307 9 130493004 [T/G] NM_144965 TTC16 EXON Missense_S648A exm783309 9 130493034 [T/C] NM_144965 TTC16 EXON Missense_S658P exm783310 9 130493052 [A/G] NM_144965 TTC16 EXON Missense_A664T exm783311 9 130493056 [T/C] NM_144965 TTC16 EXON Missense_L665P exm783319 9 130493309 [T/G] NM_144965 TTC16 EXON Missense_I749M exm783329 9 130493488 [A/G] NM_144965 TTC16 EXON Missense_Y809C exm783335 9 130493607 [A/G] NM_144965 TTC16 EXON Missense_E849K exm783342 9 130494335 [A/G] NM_001252023,NM_130459,NM_001085347,NM_001134431,NM_001134430,NM_001252021,NM_001252018 TOR2A,TOR2A,TOR2A,TOR2A,TOR2A,TOR2A,TOR2A EXON Silent,Silent,Missense_S315F,Silent,Silent,Missense_S153F,Missense_S153F exm783352 9 130494486 [A/G] NM_001252023,NM_130459,NM_001085347,NM_001134431,NM_001134430,NM_001252021,NM_001252018 TOR2A,TOR2A,TOR2A,TOR2A,TOR2A,TOR2A,TOR2A EXON Missense_A60V,Silent,Missense_R265W,Silent,Missense_A222V,Missense_R103W,Missense_R103W exm2184615 9 130494493 [T/C] NM_001252023,NM_130459,NM_001085347,NM_001134431,NM_001134430,NM_001252021,NM_001252018 TOR2A,TOR2A,TOR2A,TOR2A,TOR2A,TOR2A,TOR2A EXON Missense_A58T,Silent,Synonymous_P262P,Silent,Missense_A220T,Synonymous_P100P,Synonymous_P100P exm783357 9 130494542 [A/G] NM_001252023,NM_130459,NM_001085347,NM_001134431,NM_001134430,NM_001252021,NM_001252018 TOR2A,TOR2A,TOR2A,TOR2A,TOR2A,TOR2A,TOR2A EXON Synonymous_L41L,Silent,Missense_S246L,Silent,Synonymous_L203L,Missense_S84L,Missense_S84L exm783365 9 130494875 [A/T] NM_001252023,NM_130459,NM_001085347,NM_001134431,NM_001134430,NM_001252021,NM_001252018 TOR2A,TOR2A,TOR2A,TOR2A,TOR2A,TOR2A,TOR2A EXON Silent,Silent,Missense_V230D,Silent,Silent,Missense_V68D,Missense_V68D exm783366 9 130494878 [A/G] NM_001252023,NM_130459,NM_001085347,NM_001134431,NM_001134430,NM_001252021,NM_001252018 TOR2A,TOR2A,TOR2A,TOR2A,TOR2A,TOR2A,TOR2A EXON Silent,Silent,Missense_P229L,Silent,Silent,Missense_P67L,Missense_P67L exm2184617 9 130494918 [A/G] NM_001252023,NM_130459,NM_001085347,NM_001134431,NM_001134430,NM_001252021,NM_001252018 TOR2A,TOR2A,TOR2A,TOR2A,TOR2A,TOR2A,TOR2A EXON Silent,Silent,Missense_R216W,Silent,Silent,Missense_R54W,Missense_R54W exm783373 9 130494957 [T/C] NM_001252023,NM_130459,NM_001085347,NM_001134431,NM_001134430,NM_001252021,NM_001252018 TOR2A,TOR2A,TOR2A,TOR2A,TOR2A,TOR2A,TOR2A EXON Silent,Silent,Missense_K203E,Silent,Silent,Missense_K41E,Missense_K41E exm783376 9 130495499 [T/C] NM_001252023,NM_130459,NM_001085347,NM_001134431,NM_001134430,NM_001252021,NM_001252018 TOR2A,TOR2A,TOR2A,TOR2A,TOR2A,TOR2A,TOR2A EXON Silent,Missense_G253D,Silent,Silent,Silent,Silent,Silent exm783383 9 130495633 [G/C] NM_001252023,NM_130459,NM_001085347,NM_001134431,NM_001134430,NM_001252021,NM_001252018 TOR2A,TOR2A,TOR2A,TOR2A,TOR2A,TOR2A,TOR2A EXON Silent,Missense_W208C,Silent,Silent,Silent,Silent,Silent exm2184627 9 130501101 [T/C] NM_005489,NM_001142533,NM_001142534,NM_001142532,NM_001142531,NM_170600,NM_001252334 SH2D3C,SH2D3C,SH2D3C,SH2D3C,SH2D3C,SH2D3C,SH2D3C EXON Missense_R679H,Missense_R678H,Missense_R676H,Missense_R482H,Missense_R482H,Missense_R836H,Missense_R768H exm783412 9 130501146 [T/C] NM_005489,NM_001142533,NM_001142534,NM_001142532,NM_001142531,NM_170600,NM_001252334 SH2D3C,SH2D3C,SH2D3C,SH2D3C,SH2D3C,SH2D3C,SH2D3C EXON Missense_R664H,Missense_R663H,Missense_R661H,Missense_R467H,Missense_R467H,Missense_R821H,Missense_R753H exm783422 9 130502098 [A/G] NM_005489,NM_001142533,NM_001142534,NM_001142532,NM_001142531,NM_170600,NM_001252334 SH2D3C,SH2D3C,SH2D3C,SH2D3C,SH2D3C,SH2D3C,SH2D3C EXON Missense_S600L,Missense_S599L,Missense_S597L,Missense_S403L,Missense_S403L,Missense_S757L,Missense_S689L exm783435 9 130504155 [T/C] NM_005489,NM_001142533,NM_001142534,NM_001142532,NM_001142531,NM_170600,NM_001252334 SH2D3C,SH2D3C,SH2D3C,SH2D3C,SH2D3C,SH2D3C,SH2D3C EXON Missense_K510R,Missense_K509R,Missense_K507R,Missense_K313R,Missense_K313R,Missense_K667R,Missense_K599R exm783436 9 130504168 [T/C] NM_005489,NM_001142533,NM_001142534,NM_001142532,NM_001142531,NM_170600,NM_001252334 SH2D3C,SH2D3C,SH2D3C,SH2D3C,SH2D3C,SH2D3C,SH2D3C EXON Missense_A506T,Missense_A505T,Missense_A503T,Missense_A309T,Missense_A309T,Missense_A663T,Missense_A595T exm783444 9 130506881 [A/G] NM_005489,NM_001142533,NM_001142534,NM_001142532,NM_001142531,NM_170600,NM_001252334 SH2D3C,SH2D3C,SH2D3C,SH2D3C,SH2D3C,SH2D3C,SH2D3C EXON Missense_R431W,Missense_R430W,Missense_R428W,Missense_R234W,Missense_R234W,Missense_R588W,Missense_R520W exm783450 9 130507073 [T/C] NM_005489,NM_001142533,NM_001142534,NM_001142532,NM_001142531,NM_170600,NM_001252334 SH2D3C,SH2D3C,SH2D3C,SH2D3C,SH2D3C,SH2D3C,SH2D3C EXON Missense_R367G,Missense_R366G,Missense_R364G,Missense_R170G,Missense_R170G,Missense_R524G,Missense_R456G exm783456 9 130507139 [T/C] NM_005489,NM_001142533,NM_001142534,NM_001142532,NM_001142531,NM_170600,NM_001252334 SH2D3C,SH2D3C,SH2D3C,SH2D3C,SH2D3C,SH2D3C,SH2D3C EXON Missense_V345M,Missense_V344M,Missense_V342M,Missense_V148M,Missense_V148M,Missense_V502M,Missense_V434M exm783458 9 130507175 [A/G] NM_005489,NM_001142533,NM_001142534,NM_001142532,NM_001142531,NM_170600,NM_001252334 SH2D3C,SH2D3C,SH2D3C,SH2D3C,SH2D3C,SH2D3C,SH2D3C EXON Missense_P333S,Missense_P332S,Missense_P330S,Missense_P136S,Missense_P136S,Missense_P490S,Missense_P422S exm783474 9 130509531 [G/C] NM_005489,NM_001142533,NM_001142534,NM_001142532,NM_001142531,NM_170600,NM_001252334 SH2D3C,SH2D3C,SH2D3C,SH2D3C,SH2D3C,SH2D3C,SH2D3C EXON Missense_R230G,Missense_R229G,Missense_R227G,Missense_R33G,Missense_R33G,Missense_R387G,Missense_R319G exm783490 9 130511604 [A/G] NM_005489,NM_001142533,NM_001142534,NM_001142532,NM_001142531,NM_170600,NM_001252334 SH2D3C,SH2D3C,SH2D3C,SH2D3C,SH2D3C,SH2D3C,SH2D3C EXON Missense_A185V,Missense_A184V,Missense_A182V,Silent,Silent,Missense_A342V,Missense_A274V exm783495 9 130511737 [A/G] NM_005489,NM_001142533,NM_001142534,NM_001142532,NM_001142531,NM_170600,NM_001252334 SH2D3C,SH2D3C,SH2D3C,SH2D3C,SH2D3C,SH2D3C,SH2D3C EXON Missense_R141C,Missense_R140C,Missense_R138C,Silent,Silent,Missense_R298C,Missense_R230C exm783510 9 130523904 [T/C] NM_005489,NM_001142532,NM_001142531,NM_170600,NM_001252334 SH2D3C,SH2D3C,SH2D3C,SH2D3C,SH2D3C EXON Missense_S24G,Silent,Silent,Missense_S181G,Missense_S113G exm783532 9 130536626 [A/G] NM_170600 SH2D3C EXON Missense_T53M exm783533 9 130536629 [T/G] NM_170600 SH2D3C EXON Missense_A52D exm783536 9 130536702 [A/G] NM_170600 SH2D3C EXON Missense_R28W exm783538 9 130536710 [T/C] NM_170600 SH2D3C EXON Missense_N25S exm783539 9 130536717 [A/G] NM_170600 SH2D3C EXON Missense_L23F exm2276069 9 130551615 [C/G] NM_001261 CDK9 EXON Missense_I304M exm783617 9 130566628 [A/C] NM_004957,NM_001018078 FPGS,FPGS EXON Missense_Q68P,Missense_Q18P exm783619 9 130566678 [T/C] NM_004957,NM_001018078 FPGS,FPGS EXON Missense_R85W,Missense_R35W exm783645 9 130569894 [T/C] NM_004957,NM_001018078 FPGS,FPGS EXON Missense_L224P,Missense_L174P exm783667 9 130570983 [T/C] NM_004957,NM_001018078 FPGS,FPGS EXON Synonymous_H323H,Synonymous_H273H exm783689 9 130575515 [T/C] NM_004957,NM_001018078 FPGS,FPGS EXON Missense_R466C,Missense_R416C exm783696 9 130575582 [A/G] NM_004957,NM_001018078 FPGS,FPGS EXON Missense_S488N,Missense_S438N exm2247588 9 130575585 [T/C] NM_004957,NM_001018078 FPGS,FPGS EXON Missense_A489V,Missense_A439V exm783710 9 130575791 [T/C] NM_004957,NM_001018078 FPGS,FPGS EXON Missense_R558C,Missense_R508C exm2271152 9 130576075 [T/C] NM_004957,NM_001018078 FPGS,FPGS EXON Silent,Silent exm783722 9 130578230 [A/G] NM_001114753,NM_000118 ENG,ENG EXON Missense_S615L,Missense_S615L exm783726 9 130578312 [T/C] NM_001114753,NM_000118 ENG,ENG EXON Missense_V588I,Missense_V588I exm783734 9 130580452 [T/C] NM_001114753,NM_000118 ENG,ENG EXON Missense_G545S,Missense_G545S exm783739 9 130580575 [T/C] NM_001114753,NM_000118 ENG,ENG EXON Missense_V504M,Missense_V504M exm783743 9 130580638 [T/C] NM_001114753,NM_000118 ENG,ENG EXON Missense_V483I,Missense_V483I exm783756 9 130582193 [T/C] NM_001114753,NM_000118 ENG,ENG EXON Missense_M420V,Missense_M420V exm783763 9 130586621 [C/G] NM_001114753,NM_000118 ENG,ENG EXON Missense_D366H,Missense_D366H exm783796 9 130588046 [C/G] NM_001114753,NM_000118 ENG,ENG EXON Missense_G206A,Missense_G206A exm783800 9 130588091 [T/C] NM_001114753,NM_000118 ENG,ENG EXON Missense_G191D,Missense_G191D exm783801 9 130588098 [T/C] NM_001114753,NM_000118 ENG,ENG EXON Missense_D189N,Missense_D189N exm783805 9 130588920 [A/G] NM_001114753,NM_000118 ENG,ENG EXON Missense_P131L,Missense_P131L exm783806 9 130588924 [A/G] NM_001114753,NM_000118 ENG,ENG EXON Missense_P130S,Missense_P130S exm783818 9 130605374 [A/G] NM_001114753,NM_000118 ENG,ENG EXON Missense_T73M,Missense_T73M exm2184751 9 130605523 [A/G] NM_001114753,NM_000118 ENG,ENG EXON Synonymous_S23S,Synonymous_S23S exm783829 9 130616621 [A/G] NM_001114753,NM_000118 ENG,ENG EXON Missense_T5M,Missense_T5M exm783831 9 130616628 [A/G] NM_001114753,NM_000118 ENG,ENG EXON Missense_R3C,Missense_R3C exm-rs7865146 9 130619637 [T/C] exm783837 9 130630342 [T/C] NM_000476 AK1 EXON Missense_G177D exm783844 9 130630632 [T/C] NM_000476 AK1 EXON Missense_A162T exm783851 9 130630749 [C/G] NM_000476 AK1 EXON Missense_E123Q exm783859 9 130634178 [T/C] NM_000476 AK1 EXON Missense_K83R exm2184764 9 130635074 [A/G] NM_000476 AK1 EXON Synonymous_Y34Y exm783890 9 130648979 [T/C] NM_013443 ST6GALNAC6 EXON Missense_S301G exm783919 9 130653157 [T/C] NM_013443 ST6GALNAC6 EXON Missense_V155I exm783935 9 130656856 [A/G] NM_013443 ST6GALNAC6 EXON Missense_R78C exm2184785 9 130656963 [T/C] NM_013443 ST6GALNAC6 EXON Missense_R42Q exm783944 9 130658547 [A/G] NM_013443 ST6GALNAC6 EXON Missense_R31C exm783945 9 130658549 [T/C] NM_013443 ST6GALNAC6 EXON Missense_R30K exm783946 9 130658568 [A/G] NM_013443 ST6GALNAC6 EXON Nonsense_R24X exm2184787 9 130658570 [A/C] NM_013443 ST6GALNAC6 EXON Missense_R23L exm2277377 9 130658579 [C/G] NM_013443 ST6GALNAC6 EXON Missense_P20R exm783959 9 130670678 [A/G] NM_175039,NM_175040 ST6GALNAC4,ST6GALNAC4 EXON Missense_T301I,Missense_T217I exm783998 9 130674773 [T/C] NM_175039,NM_175040 ST6GALNAC4,ST6GALNAC4 EXON Missense_V129M,Missense_V45M exm784016 9 130677075 [T/C] NM_175039,NM_175040 ST6GALNAC4,ST6GALNAC4 EXON Missense_V20I,Silent exm784029 9 130684143 [T/C] NM_173492,NM_001135219 PIP5KL1,PIP5KL1 EXON Missense_E187K,Missense_E390K exm784036 9 130684332 [T/C] NM_173492,NM_001135219 PIP5KL1,PIP5KL1 EXON Missense_D124N,Missense_D327N exm784042 9 130687392 [A/G] NM_173492,NM_001135219 PIP5KL1,PIP5KL1 EXON Missense_T101M,Missense_T304M exm784047 9 130687440 [T/C] NM_173492,NM_001135219 PIP5KL1,PIP5KL1 EXON Missense_R85H,Missense_R288H exm784051 9 130687485 [T/C] NM_173492,NM_001135219 PIP5KL1,PIP5KL1 EXON Missense_R70Q,Missense_R273Q exm784053 9 130687527 [T/C] NM_173492,NM_001135219 PIP5KL1,PIP5KL1 EXON Missense_S56N,Missense_S259N exm784071 9 130689984 [A/G] NM_001135219 PIP5KL1 EXON Missense_P168S exm2184822 9 130692052 [A/G] NM_001135219 PIP5KL1 EXON Missense_P48L exm784085 9 130692060 [C/G] NM_001135219 PIP5KL1 EXON Missense_E45D exm784089 9 130698029 [G/C] NM_003863 DPM2 EXON Missense_T76S exm784099 9 130698874 [T/C] NM_003863 DPM2 EXON Missense_A52T exm784104 9 130699742 [T/C] NM_003863 DPM2 EXON Missense_T22A exm784117 9 130705503 [T/C] NM_203305,NM_001035254 FAM102A,FAM102A EXON Missense_V233I,Missense_V375I exm2276071 9 130706921 [A/G] NM_203305,NM_001035254 FAM102A,FAM102A EXON Missense_T219M,Missense_T361M exm784150 9 130707928 [T/C] NM_203305,NM_001035254 FAM102A,FAM102A EXON Missense_G99S,Missense_G241S exm2184854 9 130707929 [A/G] NM_203305,NM_001035254 FAM102A,FAM102A EXON Synonymous_S98S,Synonymous_S240S exm2271225 9 130776897 [T/C] exm784191 9 130825802 [A/G] NM_197956 NAIF1 EXON Missense_R297C exm784203 9 130826060 [T/A] NM_197956 NAIF1 EXON Missense_T211S exm2184880 9 130826116 [A/G] NM_197956 NAIF1 EXON Missense_A192V exm784223 9 130829203 [T/G] NM_197956 NAIF1 EXON Missense_T60P exm784227 9 130829254 [T/C] NM_197956 NAIF1 EXON Missense_A43T exm784246 9 130854358 [A/C] NM_001006641,NM_001265614,NM_001006642 SLC25A25,SLC25A25,SLC25A25 EXON Silent,Missense_Q70P,Missense_Q70P exm784249 9 130860837 [T/G] NM_001006641,NM_001265614,NM_001006642,NR_049766,NM_052901 SLC25A25,SLC25A25,SLC25A25,SLC25A25,SLC25A25 EXON Silent,Silent,Silent,Silent,Silent exm784265 9 130863590 [T/C] NM_001006641,NM_001265614,NM_001006642,NR_049766,NM_052901 SLC25A25,SLC25A25,SLC25A25,SLC25A25,SLC25A25 EXON Missense_R131C,Missense_R117C,Missense_R117C,Silent,Missense_R97C exm784269 9 130863627 [T/A] NM_001006641,NM_001265614,NM_001006642,NR_049766,NM_052901 SLC25A25,SLC25A25,SLC25A25,SLC25A25,SLC25A25 EXON Missense_D143V,Missense_D129V,Missense_D129V,Silent,Missense_D109V exm784276 9 130864716 [A/G] NM_001006641,NM_001265614,NM_001006642,NR_049766,NM_052901 SLC25A25,SLC25A25,SLC25A25,SLC25A25,SLC25A25 EXON Missense_V182M,Missense_V180M,Missense_V168M,Silent,Missense_V148M exm784292 9 130868670 [G/C] NM_001006641,NM_001265614,NM_001006642,NR_049766,NM_052901 SLC25A25,SLC25A25,SLC25A25,SLC25A25,SLC25A25 EXON Missense_Q349H,Missense_Q347H,Missense_Q335H,Silent,Missense_Q315H exm784335 9 130884723 [T/C] NM_001256335,NM_198938,NM_025072 PTGES2,PTGES2,PTGES2 EXON Missense_Y117C,Missense_Y117C,Missense_Y308C exm784337 9 130884753 [T/C] NM_001256335,NM_198938,NM_025072 PTGES2,PTGES2,PTGES2 EXON Missense_R107H,Missense_R107H,Missense_R298H exm784342 9 130885293 [C/G] NM_001256335,NM_198938,NM_025072 PTGES2,PTGES2,PTGES2 EXON Missense_K78N,Missense_K78N,Missense_K269N exm784357 9 130886050 [C/G] NM_001256335,NM_198938,NM_025072 PTGES2,PTGES2,PTGES2 EXON Missense_G15A,Missense_G15A,Missense_G206A exm784380 9 130887704 [T/C] NM_001256335,NM_198938,NM_025072 PTGES2,PTGES2,PTGES2 EXON Silent,Silent,Missense_R99H exm2247599 9 130911815 [A/G] NM_005564 LCN2 EXON Missense_G4D exm784441 9 130911821 [T/C] NM_005564 LCN2 EXON Missense_L6P exm784442 9 130911830 [T/G] NM_005564 LCN2 EXON Missense_G9V exm784444 9 130911857 [T/C] NM_005564 LCN2 EXON Missense_A18V exm784452 9 130912591 [A/G] NM_005564 LCN2 EXON Missense_M71I exm784461 9 130913979 [T/C] NM_005564 LCN2 EXON Missense_T113M exm784462 9 130913998 [T/C] NM_005564 LCN2 Silent exm784468 9 130914200 [T/C] NM_005564 LCN2 EXON Missense_T124M exm784470 9 130914211 [A/G] NM_005564 LCN2 EXON Missense_V128I exm784472 9 130914303 [T/C] NM_005564 LCN2 EXON Synonymous_Y158Y exm784479 9 130914562 [C/G] NM_005564 LCN2 EXON Missense_I192M exm784500 9 130928633 [T/C] NM_001131015,NM_001131016,NM_001131017,NM_001257975,NM_001257976,NM_012127,NM_001131018 CIZ1,CIZ1,CIZ1,CIZ1,CIZ1,CIZ1,CIZ1 EXON Missense_R791Q,Missense_R847Q,Missense_R786Q,Missense_R903Q,Missense_R746Q,Missense_R847Q,Missense_R767Q exm784523 9 130938639 [C/G] NM_001131015,NM_001131016,NM_001131017,NM_001257975,NM_001257976,NM_012127,NM_001131018 CIZ1,CIZ1,CIZ1,CIZ1,CIZ1,CIZ1,CIZ1 EXON Missense_T589R,Missense_T645R,Missense_T584R,Missense_T675R,Missense_T544R,Missense_T645R,Missense_T565R exm784526 9 130938661 [T/C] NM_001131015,NM_001131016,NM_001131017,NM_001257975,NM_001257976,NM_012127,NM_001131018 CIZ1,CIZ1,CIZ1,CIZ1,CIZ1,CIZ1,CIZ1 EXON Missense_V582M,Missense_V638M,Missense_V577M,Missense_V668M,Missense_V537M,Missense_V638M,Missense_V558M exm784532 9 130939930 [A/G] NM_001131015,NM_001131016,NM_001131017,NM_001257975,NM_001257976,NM_012127,NM_001131018 CIZ1,CIZ1,CIZ1,CIZ1,CIZ1,CIZ1,CIZ1 EXON Missense_S522F,Missense_S578F,Missense_S517F,Missense_S608F,Missense_S477F,Missense_S578F,Missense_S498F exm784534 9 130939937 [T/C] NM_001131015,NM_001131016,NM_001131017,NM_001257975,NM_001257976,NM_012127,NM_001131018 CIZ1,CIZ1,CIZ1,CIZ1,CIZ1,CIZ1,CIZ1 EXON Missense_V520I,Missense_V576I,Missense_V515I,Missense_V606I,Missense_V475I,Missense_V576I,Missense_V496I exm2247601 9 130941134 [A/G] NM_001131015,NM_001131016,NM_001131017,NM_001257975,NM_001257976,NM_012127,NM_001131018 CIZ1,CIZ1,CIZ1,CIZ1,CIZ1,CIZ1,CIZ1 EXON Missense_A395V,Missense_A451V,Missense_A390V,Missense_A481V,Missense_A350V,Missense_A451V,Missense_A371V exm784556 9 130941236 [A/C] NM_001131015,NM_001131016,NM_001131017,NM_001257975,NM_001257976,NM_012127,NM_001131018 CIZ1,CIZ1,CIZ1,CIZ1,CIZ1,CIZ1,CIZ1 EXON Silent,Missense_R417M,Silent,Missense_R447M,Missense_R316M,Missense_R417M,Silent exm784567 9 130941316 [A/C] NM_001131015,NM_001131016,NM_001131017,NM_001257975,NM_001257976,NM_012127,NM_001131018 CIZ1,CIZ1,CIZ1,CIZ1,CIZ1,CIZ1,CIZ1 EXON Silent,Missense_Q390H,Silent,Missense_Q420H,Missense_Q289H,Missense_Q390H,Silent exm784572 9 130941377 [T/C] NM_001131015,NM_001131016,NM_001131017,NM_001257975,NM_001257976,NM_012127,NM_001131018 CIZ1,CIZ1,CIZ1,CIZ1,CIZ1,CIZ1,CIZ1 EXON Missense_E370G,Missense_E370G,Missense_E365G,Missense_E400G,Missense_E269G,Missense_E370G,Missense_E346G exm784581 9 130941501 [A/G] NM_001131015,NM_001131016,NM_001131017,NM_001257975,NM_001257976,NM_012127,NM_001131018 CIZ1,CIZ1,CIZ1,CIZ1,CIZ1,CIZ1,CIZ1 EXON Missense_R329W,Missense_R329W,Missense_R324W,Missense_R359W,Missense_R228W,Missense_R329W,Missense_R305W exm784587 9 130941557 [T/C] NM_001131015,NM_001131016,NM_001131017,NM_001257975,NM_001257976,NM_012127,NM_001131018 CIZ1,CIZ1,CIZ1,CIZ1,CIZ1,CIZ1,CIZ1 EXON Missense_R310Q,Missense_R310Q,Missense_R305Q,Missense_R340Q,Missense_R209Q,Missense_R310Q,Missense_R286Q exm784590 9 130941638 [A/G] NM_001131015,NM_001131016,NM_001131017,NM_001257975,NM_001257976,NM_012127,NM_001131018 CIZ1,CIZ1,CIZ1,CIZ1,CIZ1,CIZ1,CIZ1 EXON Missense_P283L,Missense_P283L,Missense_P278L,Missense_P313L,Missense_P182L,Missense_P283L,Missense_P259L exm784591 9 130941651 [T/C] NM_001131015,NM_001131016,NM_001131017,NM_001257975,NM_001257976,NM_012127,NM_001131018 CIZ1,CIZ1,CIZ1,CIZ1,CIZ1,CIZ1,CIZ1 EXON Missense_V279M,Missense_V279M,Missense_V274M,Missense_V309M,Missense_V178M,Missense_V279M,Missense_V255M exm2259173 9 130941691 [T/G] NM_001131015,NM_001131016,NM_001131017,NM_001257975,NM_001257976,NM_012127,NM_001131018 CIZ1,CIZ1,CIZ1,CIZ1,CIZ1,CIZ1,CIZ1 EXON Synonymous_S265S,Synonymous_S265S,Synonymous_S260S,Synonymous_S295S,Synonymous_S164S,Synonymous_S265S,Synonymous_S241S exm784599 9 130942770 [T/C] NM_001131015,NM_001131016,NM_001131017,NM_001257975,NM_001257976,NM_012127,NM_001131018 CIZ1,CIZ1,CIZ1,CIZ1,CIZ1,CIZ1,CIZ1 EXON Missense_A239T,Missense_A239T,Missense_A234T,Missense_A269T,Missense_A138T,Missense_A239T,Missense_A215T exm784605 9 130943027 [T/C] NM_001131015,NM_001131016,NM_001131017,NM_001257975,NM_001257976,NM_012127,NM_001131018 CIZ1,CIZ1,CIZ1,CIZ1,CIZ1,CIZ1,CIZ1 EXON Missense_A219T,Missense_A219T,Missense_A214T,Missense_A249T,Missense_A118T,Missense_A219T,Missense_A195T exm784634 9 130965795 [A/C] NM_001131015,NM_012127,NM_001005336,NM_004408 CIZ1,CIZ1,DNM1,DNM1 EXON Silent,Silent,Missense_L16M,Missense_L16M exm-rs2502731 9 130976557 [T/C] NM_001005336,NM_004408 DNM1,DNM1 Silent,Silent exm784642 9 130980957 [C/G] NM_001005336,NM_004408 DNM1,DNM1 EXON Missense_T111S,Missense_T111S exm784660 9 130982496 [T/C] NM_001005336,NM_004408 DNM1,DNM1 EXON Missense_I242T,Missense_I242T exm784706 9 131004539 [A/G] NM_001005336,NM_004408 DNM1,DNM1 EXON Missense_I529V,Missense_I529V exm784717 9 131008765 [T/C] NM_001005336,NM_004408 DNM1,DNM1 EXON Missense_S588F,Missense_S588F exm784719 9 131009679 [G/C] NM_001005336,NM_004408 DNM1,DNM1 EXON Missense_S602R,Missense_S602R exm784726 9 131010871 [A/T] NM_001005336,NM_004408 DNM1,DNM1 EXON Missense_R638S,Missense_R638S exm784770 9 131019738 [T/C] NM_004486 GOLGA2 EXON Missense_R902G exm784785 9 131020422 [T/C] NM_004486 GOLGA2 EXON Missense_R755H exm784792 9 131020815 [A/C] NM_004486 GOLGA2 EXON Missense_E709D exm784793 9 131020818 [A/C] NM_004486 GOLGA2 EXON Missense_D708E exm784822 9 131022776 [C/G] NM_004486 GOLGA2 EXON Missense_L549V exm784823 9 131022784 [T/C] NM_004486 GOLGA2 EXON Missense_K546R exm784841 9 131023505 [T/C] NM_004486 GOLGA2 EXON Missense_M429V exm784847 9 131023830 [A/G] NM_004486 GOLGA2 EXON Missense_S385L exm784877 9 131028597 [T/C] NM_004486 GOLGA2 EXON Missense_Q190R exm784881 9 131029541 [G/C] NM_004486 GOLGA2 EXON Missense_Q165E exm784889 9 131030709 [A/G] NM_004486 GOLGA2 EXON Missense_A101V exm784893 9 131030778 [A/G] NM_004486 GOLGA2 EXON Missense_L78P exm784908 9 131038429 [A/C] NM_001040011 SWI5 EXON Missense_Q2P exm784914 9 131038482 [T/C] NM_001040011 SWI5 EXON Missense_R20C exm2185153 9 131038563 [T/C] NM_001040011 SWI5 EXON Missense_L47F exm784921 9 131038569 [A/G] NM_001040011 SWI5 EXON Missense_V49I exm784922 9 131038575 [G/C] NM_001040011 SWI5 EXON Missense_V51L exm784924 9 131038590 [A/C] NM_001040011 SWI5 EXON Missense_H56N exm784926 9 131038602 [A/C] NM_001040011 SWI5 EXON Missense_R60S exm784927 9 131038611 [A/G] NM_001040011 SWI5 EXON Missense_T63A exm784929 9 131038643 [A/C] NM_001040011 SWI5 EXON Missense_N73K exm784935 9 131038966 [T/C] NM_001040011 SWI5 EXON Missense_P120S exm784960 9 131071839 [A/G] NM_015679 TRUB2 EXON Missense_A329V exm784961 9 131071856 [G/C] NM_015679 TRUB2 EXON Missense_L323F exm784963 9 131071869 [A/G] NM_015679 TRUB2 EXON Missense_P319L exm784965 9 131071884 [T/C] NM_015679 TRUB2 EXON Nonsense_W314X exm784979 9 131073210 [G/C] NM_015679 TRUB2 EXON Missense_T209S exm784985 9 131073294 [T/C] NM_015679 TRUB2 EXON Missense_N181S exm784998 9 131076150 [A/G] NM_015679 TRUB2 EXON Missense_L133F exm785000 9 131076155 [T/C] NM_015679 TRUB2 EXON Missense_R131H exm2276075 9 131079470 [C/G] NM_015679 TRUB2 EXON Missense_V93L exm785012 9 131079479 [T/G] NM_015679 TRUB2 EXON Missense_K90Q exm785017 9 131083883 [A/G] NM_015679 TRUB2 EXON Missense_P79L exm785018 9 131083925 [A/G] NM_015679 TRUB2 EXON Missense_L65P exm2185197 9 131088131 [T/C] NM_016035 COQ4 EXON Missense_R125C exm785047 9 131088134 [A/G] NM_016035 COQ4 EXON Missense_E126K exm785051 9 131094453 [A/G] NM_016035 COQ4 EXON Missense_A142T exm785058 9 131094512 [C/G] NM_016035 COQ4 EXON Missense_E161D exm785063 9 131095176 [A/G] NM_016035 COQ4 EXON Missense_M194V exm785064 9 131095210 [A/G] NM_016035 COQ4 EXON Missense_R205Q exm785070 9 131095827 [A/G] NM_016035 COQ4 EXON Missense_N234S exm785072 9 131095844 [T/C] NM_016035 COQ4 EXON Missense_R240C exm785091 9 131107439 [T/G] NM_005094 SLC27A4 EXON Missense_G56V exm785102 9 131107586 [A/G] NM_005094 SLC27A4 EXON Missense_R105H exm785106 9 131107634 [A/G] NM_005094 SLC27A4 EXON Missense_R121Q exm2185224 9 131107679 [A/G] NM_005094 SLC27A4 EXON Missense_R136H exm785112 9 131107720 [A/G] NM_005094 SLC27A4 EXON Missense_G150S exm785117 9 131107776 [A/C] NM_005094 SLC27A4 EXON Nonsense_C168X exm785121 9 131107792 [A/G] NM_005094 SLC27A4 EXON Missense_A174T exm785124 9 131110829 [T/G] NM_005094 SLC27A4 EXON Missense_C188G exm785129 9 131110892 [A/G] NM_005094 SLC27A4 EXON Missense_G209S exm785132 9 131110965 [T/C] NM_005094 SLC27A4 EXON Missense_P233L exm785146 9 131115368 [A/G] NM_005094 SLC27A4 EXON Missense_N351S exm785165 9 131115799 [A/G] NM_005094 SLC27A4 EXON Missense_V435I exm785168 9 131117417 [G/C] NM_005094 SLC27A4 EXON Missense_N470K exm785240 9 131150175 [A/G] NM_030914,NM_001265582,NM_001135947,NR_049743 URM1,URM1,URM1,URM1 EXON Missense_V63M,Missense_V63M,Missense_V63M,Silent exm2185276 9 131151611 [T/C] NM_030914,NM_001265582,NM_001135947,NR_049743 URM1,URM1,URM1,URM1 EXON Silent,Silent,Missense_P87L,Silent exm785246 9 131151715 [G/C] NM_030914,NM_001265582,NM_001135947,NR_049743 URM1,URM1,URM1,URM1 EXON Silent,Silent,Missense_L122V,Silent exm785251 9 131151981 [A/G] NM_030914,NM_001265582,NM_001135947,NR_049743 URM1,URM1,URM1,URM1 EXON Missense_V92I,Silent,Silent,Silent exm785267 9 131185203 [C/G] NM_016174 CERCAM EXON Missense_A85G exm785273 9 131185250 [A/G] NM_016174 CERCAM EXON Missense_E101K exm785284 9 131186484 [A/C] NM_016174 CERCAM EXON Missense_P165Q exm785286 9 131186498 [A/G] NM_016174 CERCAM EXON Missense_M170V exm785287 9 131186549 [G/C] NM_016174 CERCAM EXON Missense_Q187E exm785297 9 131186740 [T/C] NM_016174 CERCAM EXON Missense_R205W exm785300 9 131186753 [A/G] NM_016174 CERCAM EXON Missense_R209H exm785302 9 131186783 [T/C] NM_016174 CERCAM EXON Missense_A219V exm785306 9 131186811 [T/G] NM_016174 CERCAM EXON Missense_Q228H exm2259174 9 131186856 [T/C] NM_016174 CERCAM EXON Synonymous_D243D exm785316 9 131190650 [A/G] NM_016174 CERCAM EXON Missense_G279E exm785322 9 131191041 [A/G] NM_016174 CERCAM EXON Missense_G298S exm785324 9 131191048 [A/G] NM_016174 CERCAM EXON Missense_R300H exm785342 9 131193481 [A/G] NM_016174 CERCAM EXON Missense_G368S exm785349 9 131193551 [C/G] NM_016174 CERCAM EXON Missense_C391S exm2264356 9 131193665 [A/C] NM_016174 CERCAM Silent exm785358 9 131196429 [T/C] NM_016174 CERCAM EXON Missense_R418C exm785372 9 131196799 [T/C] NM_016174 CERCAM EXON Missense_L481P exm785377 9 131196838 [A/G] NM_016174 CERCAM EXON Missense_R494H exm785379 9 131196841 [A/G] NM_016174 CERCAM EXON Missense_R495H exm785406 9 131198113 [T/C] NM_016174 CERCAM EXON Missense_R573C exm785407 9 131198119 [A/C] NM_016174 CERCAM EXON Missense_P575T exm785408 9 131198146 [A/G] NM_016174 CERCAM EXON Missense_G584R exm785414 9 131198179 [A/C] NM_016174 CERCAM EXON Missense_L595I exm785415 9 131217494 [T/C] NM_153436 ODF2 EXON Missense_P7S exm785426 9 131221884 [T/C] NM_153436,NM_001242352,NM_001242353,NM_153439,NM_001242354,NM_153432,NM_002540,NM_153435,NM_153433,NM_153440,NM_153437 ODF2,ODF2,ODF2,ODF2,ODF2,ODF2,ODF2,ODF2,ODF2,ODF2,ODF2 EXON Missense_T24M,Silent,Missense_T24M,Missense_T68M,Silent,Missense_T68M,Silent,Missense_T68M,Missense_T24M,Missense_T24M,Missense_T24M exm785428 9 131221904 [C/G] NM_153436,NM_001242352,NM_001242353,NM_153439,NM_001242354,NM_153432,NM_002540,NM_153435,NM_153433,NM_153440,NM_153437 ODF2,ODF2,ODF2,ODF2,ODF2,ODF2,ODF2,ODF2,ODF2,ODF2,ODF2 EXON Missense_A31P,Silent,Missense_A31P,Missense_A75P,Silent,Missense_A75P,Silent,Missense_A75P,Missense_A31P,Missense_A31P,Missense_A31P exm785429 9 131221916 [A/G] NM_153436,NM_001242352,NM_001242353,NM_153439,NM_001242354,NM_153432,NM_002540,NM_153435,NM_153433,NM_153440,NM_153437 ODF2,ODF2,ODF2,ODF2,ODF2,ODF2,ODF2,ODF2,ODF2,ODF2,ODF2 EXON Missense_A35T,Silent,Missense_A35T,Missense_A79T,Silent,Missense_A79T,Silent,Missense_A79T,Missense_A35T,Missense_A35T,Missense_A35T exm785445 9 131231577 [A/G] NM_153436,NM_001242352,NM_001242353,NM_153439,NM_001242354,NM_153432,NM_002540,NM_153435,NM_153433,NM_153440,NM_153437 ODF2,ODF2,ODF2,ODF2,ODF2,ODF2,ODF2,ODF2,ODF2,ODF2,ODF2 EXON Missense_R122H,Missense_R117H,Missense_R122H,Missense_R147H,Silent,Missense_R166H,Missense_R98H,Missense_R186H,Missense_R122H,Missense_R103H,Missense_R103H exm785455 9 131233705 [A/G] NM_153436,NM_001242352,NM_001242353,NM_153439,NM_001242354,NM_153432,NM_002540,NM_153435,NM_153433,NM_153440,NM_153437 ODF2,ODF2,ODF2,ODF2,ODF2,ODF2,ODF2,ODF2,ODF2,ODF2,ODF2 EXON Missense_R180K,Missense_R175K,Missense_R180K,Missense_R205K,Missense_R99K,Missense_R224K,Missense_R156K,Missense_R244K,Missense_R180K,Missense_R161K,Missense_R161K exm785462 9 131235320 [T/C] NM_153436,NM_001242352,NM_001242353,NM_153439,NM_001242354,NM_153432,NM_002540,NM_153435,NM_153433,NM_153440,NM_153437 ODF2,ODF2,ODF2,ODF2,ODF2,ODF2,ODF2,ODF2,ODF2,ODF2,ODF2 EXON Missense_T237M,Missense_T232M,Missense_T237M,Missense_T262M,Missense_T156M,Missense_T281M,Missense_T213M,Missense_T301M,Missense_T237M,Missense_T218M,Missense_T218M exm785463 9 131235321 [A/G] NM_153436,NM_001242352,NM_001242353,NM_153439,NM_001242354,NM_153432,NM_002540,NM_153435,NM_153433,NM_153440,NM_153437 ODF2,ODF2,ODF2,ODF2,ODF2,ODF2,ODF2,ODF2,ODF2,ODF2,ODF2 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm785468 9 131235989 [A/G] NM_153436,NM_001242352,NM_001242353,NM_153439,NM_001242354,NM_153432,NM_002540,NM_153435,NM_153433,NM_153440,NM_153437 ODF2,ODF2,ODF2,ODF2,ODF2,ODF2,ODF2,ODF2,ODF2,ODF2,ODF2 EXON Missense_R271Q,Missense_R266Q,Missense_R271Q,Missense_R296Q,Missense_R190Q,Missense_R315Q,Missense_R247Q,Missense_R335Q,Missense_R271Q,Missense_R252Q,Missense_R252Q exm785470 9 131243908 [C/G] NM_153436,NM_001242352,NM_001242353,NM_153439,NM_001242354,NM_153432,NM_002540,NM_153435,NM_153433,NM_153440,NM_153437 ODF2,ODF2,ODF2,ODF2,ODF2,ODF2,ODF2,ODF2,ODF2,ODF2,ODF2 EXON Missense_A298G,Missense_A293G,Missense_A298G,Missense_A323G,Missense_A217G,Missense_A342G,Missense_A274G,Missense_A362G,Missense_A298G,Missense_A279G,Missense_A279G exm785485 9 131246994 [A/C] NM_153436,NM_001242352,NM_001242353,NM_153439,NM_001242354,NM_153432,NM_002540,NM_153435,NM_153433,NM_153440,NM_153437 ODF2,ODF2,ODF2,ODF2,ODF2,ODF2,ODF2,ODF2,ODF2,ODF2,ODF2 EXON Missense_S373R,Missense_S368R,Missense_S373R,Missense_S398R,Missense_S292R,Missense_S417R,Missense_S349R,Missense_S437R,Missense_S373R,Missense_S354R,Missense_S354R exm785486 9 131247005 [A/G] NM_153436,NM_001242352,NM_001242353,NM_153439,NM_001242354,NM_153432,NM_002540,NM_153435,NM_153433,NM_153440,NM_153437 ODF2,ODF2,ODF2,ODF2,ODF2,ODF2,ODF2,ODF2,ODF2,ODF2,ODF2 EXON Missense_H377R,Missense_H372R,Missense_H377R,Missense_H402R,Missense_H296R,Missense_H421R,Missense_H353R,Missense_H441R,Missense_H377R,Missense_H358R,Missense_H358R exm2247614 9 131255065 [T/C] NM_153436,NM_001242352,NM_001242353,NM_153439,NM_001242354,NM_153432,NM_002540,NM_153435,NM_153433,NM_153440,NM_153437 ODF2,ODF2,ODF2,ODF2,ODF2,ODF2,ODF2,ODF2,ODF2,ODF2,ODF2 EXON Missense_M578T,Missense_M573T,Missense_M578T,Silent,Missense_M497T,Missense_M622T,Missense_M554T,Missense_M642T,Missense_M578T,Missense_M559T,Missense_M559T exm785520 9 131260741 [T/G] NM_001242352,NM_001242353,NM_002540,NM_153435,NM_153433 ODF2,ODF2,ODF2,ODF2,ODF2 EXON Missense_A683S,Missense_A688S,Missense_A664S,Missense_A752S,Missense_A688S exm785527 9 131260808 [C/G] NM_001242352,NM_001242353,NM_002540,NM_153435,NM_153433 ODF2,ODF2,ODF2,ODF2,ODF2 EXON Missense_T705S,Missense_T710S,Missense_T686S,Missense_T774S,Missense_T710S exm785533 9 131261359 [A/G] NM_001242352,NM_001242353,NM_002540,NM_153435,NM_153433 ODF2,ODF2,ODF2,ODF2,ODF2 EXON Missense_S747N,Missense_S752N,Missense_S728N,Missense_S816N,Missense_S752N exm785535 9 131261392 [G/C] NM_001242352,NM_001242353,NM_002540,NM_153435,NM_153433 ODF2,ODF2,ODF2,ODF2,ODF2 EXON Missense_R758P,Missense_R763P,Missense_R739P,Missense_R827P,Missense_R763P exm785541 9 131262389 [A/G] NM_001242352,NM_001242353,NM_002540,NM_153435,NM_153433 ODF2,ODF2,ODF2,ODF2,ODF2 EXON Missense_R777H,Missense_R782H,Missense_R758H,Missense_R846H,Missense_R782H exm785548 9 131262512 [A/G] NM_001242352,NM_001242353,NM_002540,NM_153435,NM_153433 ODF2,ODF2,ODF2,ODF2,ODF2 EXON Missense_R818H,Missense_R823H,Missense_R799H,Missense_R887H,Missense_R823H exm785550 9 131262518 [A/G] NM_001242352,NM_001242353,NM_002540,NM_153435,NM_153433 ODF2,ODF2,ODF2,ODF2,ODF2 EXON Missense_R820Q,Missense_R825Q,Missense_R801Q,Missense_R889Q,Missense_R825Q exm785555 9 131267089 [G/C] NM_001499,NM_001003722 GLE1,GLE1 EXON Missense_P2R,Missense_P2R exm785557 9 131271171 [A/G] NM_001499,NM_001003722 GLE1,GLE1 EXON Missense_C39Y,Missense_C39Y exm785577 9 131284969 [A/G] NM_001499,NM_001003722 GLE1,GLE1 EXON Missense_E152G,Missense_E152G exm785583 9 131285087 [C/G] NM_001499,NM_001003722 GLE1,GLE1 EXON Missense_M191I,Missense_M191I exm785584 9 131285089 [A/G] NM_001499,NM_001003722 GLE1,GLE1 EXON Missense_E192G,Missense_E192G exm785588 9 131285907 [T/C] NM_001499,NM_001003722 GLE1,GLE1 EXON Missense_R227C,Missense_R227C exm785590 9 131285932 [A/G] NM_001499,NM_001003722 GLE1,GLE1 EXON Missense_R235Q,Missense_R235Q exm785592 9 131285955 [A/G] NM_001499,NM_001003722 GLE1,GLE1 EXON Missense_I243V,Missense_I243V exm785595 9 131286051 [A/G] NM_001499,NM_001003722 GLE1,GLE1 EXON Missense_D275N,Missense_D275N exm785600 9 131287520 [A/G] NM_001499,NM_001003722 GLE1,GLE1 EXON Missense_R316Q,Missense_R316Q exm785603 9 131287573 [A/G] NM_001499,NM_001003722 GLE1,GLE1 EXON Missense_E334K,Missense_E334K exm785604 9 131287682 [T/C] NM_001499,NM_001003722 GLE1,GLE1 EXON Missense_P370L,Missense_P370L exm785615 9 131295872 [T/A] NM_001499,NM_001003722 GLE1,GLE1 EXON Missense_S465T,Missense_S465T exm785616 9 131295875 [A/G] NM_001499,NM_001003722 GLE1,GLE1 EXON Missense_V466I,Missense_V466I exm785624 9 131298693 [A/G] NM_001499,NM_001003722 GLE1,GLE1 EXON Missense_R569H,Missense_R569H exm785636 9 131303380 [A/G] NM_001003722 GLE1 Silent exm2273460 9 131303522 [A/G] NM_001003722 GLE1 EXON Silent exm785666 9 131339659 [A/G] NM_001195532,NM_001130438,NM_003127 SPTAN1,SPTAN1,SPTAN1 EXON Missense_R320H,Missense_R320H,Missense_R320H exm785667 9 131339707 [A/G] NM_001195532,NM_001130438,NM_003127 SPTAN1,SPTAN1,SPTAN1 EXON Missense_R336Q,Missense_R336Q,Missense_R336Q exm785668 9 131339773 [A/G] NM_001195532,NM_001130438,NM_003127 SPTAN1,SPTAN1,SPTAN1 EXON Missense_N358S,Missense_N358S,Missense_N358S exm2247618 9 131340435 [A/G] NM_001195532,NM_001130438,NM_003127 SPTAN1,SPTAN1,SPTAN1 EXON Missense_T378A,Missense_T378A,Missense_T378A exm785677 9 131341997 [T/G] NM_001195532,NM_001130438,NM_003127 SPTAN1,SPTAN1,SPTAN1 EXON Missense_S435A,Missense_S435A,Missense_S435A exm785678 9 131343207 [A/G] NM_001195532,NM_001130438,NM_003127 SPTAN1,SPTAN1,SPTAN1 EXON Missense_V444I,Missense_V444I,Missense_V444I exm785682 9 131344110 [T/C] NM_001195532,NM_001130438,NM_003127 SPTAN1,SPTAN1,SPTAN1 EXON Missense_A504V,Missense_A504V,Missense_A504V exm2247620 9 131346600 [A/C] NM_001195532,NM_001130438,NM_003127 SPTAN1,SPTAN1,SPTAN1 EXON Missense_Q745K,Missense_Q745K,Missense_Q745K exm785717 9 131346691 [T/C] NM_001195532,NM_001130438,NM_003127 SPTAN1,SPTAN1,SPTAN1 EXON Missense_A775V,Missense_A775V,Missense_A775V exm785734 9 131348219 [A/G] NM_001195532,NM_001130438,NM_003127 SPTAN1,SPTAN1,SPTAN1 EXON Missense_Y918C,Missense_Y918C,Missense_Y918C exm2247621 9 131356473 [C/G] NM_001195532,NM_001130438,NM_003127 SPTAN1,SPTAN1,SPTAN1 EXON Missense_L1059V,Missense_L1079V,Missense_L1079V exm785764 9 131360712 [A/G] NM_001195532,NM_001130438,NM_003127 SPTAN1,SPTAN1,SPTAN1 EXON Missense_I1130V,Missense_I1150V,Missense_I1150V exm785767 9 131360782 [A/C] NM_001195532,NM_001130438,NM_003127 SPTAN1,SPTAN1,SPTAN1 EXON Missense_Q1153P,Missense_Q1173P,Missense_Q1173P exm785789 9 131367756 [A/G] NM_001195532,NM_001130438,NM_003127 SPTAN1,SPTAN1,SPTAN1 EXON Missense_R1329Q,Missense_R1349Q,Missense_R1349Q exm785794 9 131370183 [T/A] NM_001195532,NM_001130438,NM_003127 SPTAN1,SPTAN1,SPTAN1 EXON Missense_Q1380L,Missense_Q1400L,Missense_Q1400L exm2259175 9 131370244 [T/G] NM_001195532,NM_001130438,NM_003127 SPTAN1,SPTAN1,SPTAN1 EXON Synonymous_L1400L,Synonymous_L1420L,Synonymous_L1420L exm785798 9 131370244 [T/G] NM_001195532,NM_001130438,NM_003127 SPTAN1,SPTAN1,SPTAN1 EXON Synonymous_L1400L,Synonymous_L1420L,Synonymous_L1420L exm785800 9 131370267 [G/C] NM_001195532,NM_001130438,NM_003127 SPTAN1,SPTAN1,SPTAN1 EXON Missense_A1408G,Missense_A1428G,Missense_A1428G exm2185518 9 131371201 [A/G] NM_001195532,NM_001130438,NM_003127 SPTAN1,SPTAN1,SPTAN1 EXON Missense_A1494T,Missense_A1514T,Missense_A1514T exm785814 9 131371241 [A/G] NM_001195532,NM_001130438,NM_003127 SPTAN1,SPTAN1,SPTAN1 EXON Missense_N1507S,Missense_N1527S,Missense_N1527S exm2185536 9 131380339 [T/C] NM_001195532,NM_001130438,NM_003127 SPTAN1,SPTAN1,SPTAN1 EXON Missense_A1826V,Missense_A1851V,Missense_A1846V exm2185546 9 131388168 [A/G] NM_001195532,NM_001130438,NM_003127 SPTAN1,SPTAN1,SPTAN1 EXON Missense_A2039T,Missense_A2064T,Missense_A2059T exm785876 9 131388798 [C/G] NM_001195532,NM_001130438,NM_003127 SPTAN1,SPTAN1,SPTAN1 EXON Missense_E2111D,Missense_E2136D,Missense_E2131D exm785879 9 131388878 [A/G] NM_001195532,NM_001130438,NM_003127 SPTAN1,SPTAN1,SPTAN1 EXON Missense_K2138R,Missense_K2163R,Missense_K2158R exm785914 9 131395498 [A/G] NM_001195532,NM_001130438,NM_003127 SPTAN1,SPTAN1,SPTAN1 EXON Missense_R2415Q,Missense_R2440Q,Missense_R2435Q exm2185578 9 131395545 [A/G] NM_001195532,NM_001130438,NM_003127 SPTAN1,SPTAN1,SPTAN1 EXON Missense_G2431S,Missense_G2456S,Missense_G2451S exm785938 9 131396135 [A/G] NM_052844 WDR34 EXON Missense_A500V exm785940 9 131396514 [A/G] NM_052844 WDR34 EXON Missense_S455P exm2185592 9 131396567 [T/C] NM_052844 WDR34 EXON Missense_Y437C exm785959 9 131397116 [T/C] NM_052844 WDR34 EXON Missense_G356S exm785963 9 131397194 [A/G] NM_052844 WDR34 EXON Missense_R330C exm785972 9 131397496 [T/C] NM_052844 WDR34 EXON Missense_V286M exm785974 9 131397526 [G/C] NM_052844 WDR34 EXON Missense_P276A exm785997 9 131398647 [A/G] NM_052844 WDR34 EXON Missense_R206C exm786000 9 131398694 [A/G] NM_052844 WDR34 EXON Missense_T190M exm786058 9 131455942 [T/C] NM_001122821,NM_001248000,NM_003011,NM_001248001 SET,SET,SET,SET EXON Missense_T186M,Missense_T164M,Missense_T173M,Missense_T162M exm786086 9 131467744 [T/C] NM_013355 PKN3 EXON Missense_R63C exm786092 9 131468060 [T/C] NM_013355 PKN3 EXON Missense_R105W exm786093 9 131468061 [A/G] NM_013355 PKN3 EXON Missense_R105Q exm786095 9 131468078 [T/C] NM_013355 PKN3 EXON Missense_R111W exm2247626 9 131469007 [T/G] NM_013355 PKN3 EXON Missense_A143S exm786105 9 131469190 [A/C] NM_013355 PKN3 EXON Missense_A180E exm786113 9 131469285 [T/C] NM_013355 PKN3 EXON Missense_R212C exm786119 9 131469598 [A/G] NM_013355 PKN3 EXON Missense_R250H exm786120 9 131469610 [T/C] NM_013355 PKN3 EXON Missense_T254I exm786127 9 131475346 [A/G] NM_013355 PKN3 EXON Missense_R284H exm786133 9 131475435 [T/C] NM_013355 PKN3 EXON Missense_R314W exm786136 9 131475468 [A/G] NM_013355 PKN3 EXON Missense_E325K exm786140 9 131475583 [G/C] NM_013355 PKN3 EXON Missense_D337H exm786144 9 131475625 [A/G] NM_013355 PKN3 EXON Missense_E351K exm786145 9 131475629 [A/G] NM_013355 PKN3 EXON Missense_Q352R exm2185649 9 131475665 [A/G] NM_013355 PKN3 EXON Missense_R364Q exm786154 9 131475895 [T/G] NM_013355 PKN3 EXON Missense_V404L exm786160 9 131476361 [T/C] NM_013355 PKN3 EXON Missense_R425W exm786161 9 131476362 [A/G] NM_013355 PKN3 EXON Missense_R425Q exm786165 9 131476477 [A/C] NM_013355 PKN3 EXON Synonymous_G438G exm786168 9 131476511 [A/G] NM_013355 PKN3 EXON Missense_G450S exm786193 9 131477086 [A/C] NM_013355 PKN3 EXON Missense_R532S exm786198 9 131477451 [T/G] NM_013355 PKN3 EXON Missense_R551S exm786199 9 131477455 [A/C] NM_013355 PKN3 EXON Missense_P553T exm786203 9 131477497 [T/C] NM_013355 PKN3 EXON Missense_R567W exm786209 9 131477723 [T/C] NM_013355 PKN3 EXON Missense_R598W exm786219 9 131480651 [A/G] NM_013355 PKN3 EXON Missense_K678R exm786232 9 131482234 [A/G] NM_013355 PKN3 EXON Missense_V772I exm786235 9 131482258 [A/G] NM_013355 PKN3 EXON Missense_G780S exm786256 9 131482782 [T/C] NM_013355 PKN3 EXON Missense_P856L exm786263 9 131483486 [T/C] NM_032799 ZDHHC12 EXON Missense_E260K exm786264 9 131483551 [T/A] NM_032799 ZDHHC12 EXON Missense_N238I exm786268 9 131483594 [A/G] NM_032799 ZDHHC12 EXON Missense_R224C exm786271 9 131483668 [A/G] NM_032799 ZDHHC12 EXON Missense_V199A exm786272 9 131483684 [G/C] NM_032799 ZDHHC12 EXON Missense_A194P exm786275 9 131483741 [A/G] NM_032799 ZDHHC12 EXON Missense_R175W exm786276 9 131483749 [A/T] NM_032799 ZDHHC12 EXON Missense_Q172L exm786291 9 131484071 [T/C] NM_032799 ZDHHC12 EXON Missense_R114H exm786292 9 131484072 [A/G] NM_032799 ZDHHC12 EXON Missense_R114C exm786297 9 131484310 [T/C] NM_032799 ZDHHC12 EXON Missense_R98H exm2185702 9 131484314 [A/G] NM_032799 ZDHHC12 EXON Missense_R97W exm786305 9 131484772 [T/C] NM_032799 ZDHHC12 EXON Missense_Y61C exm786306 9 131484835 [T/C] NM_032799 ZDHHC12 EXON Missense_E40G exm786307 9 131484847 [T/C] NM_032799 ZDHHC12 EXON Missense_R36Q exm786322 9 131495722 [C/G] NM_006336 ZER1 EXON Missense_E742D exm786326 9 131495752 [C/G] NM_006336 ZER1 EXON Missense_D732E exm2259176 9 131513485 [C/G] NM_006336 ZER1 EXON Synonymous_R367R exm786369 9 131513717 [T/C] NM_006336 ZER1 EXON Missense_R338H exm786374 9 131515055 [A/G] NM_006336 ZER1 EXON Missense_F274L exm786377 9 131515516 [A/C] NM_006336 ZER1 EXON Missense_V225L exm786389 9 131516196 [A/G] NM_006336 ZER1 EXON Synonymous_H67H exm2259177 9 131516196 [A/G] NM_006336 ZER1 EXON Synonymous_H67H exm786391 9 131517699 [T/C] NM_006336 ZER1 EXON Missense_R49Q exm786393 9 131517741 [T/C] NM_006336 ZER1 EXON Missense_R35Q exm2271153 9 131527676 [T/G] NM_006336 ZER1 Silent exm786425 9 131565554 [T/C] NM_018201 TBC1D13 EXON Missense_V190A exm786426 9 131565571 [A/G] NM_018201 TBC1D13 EXON Missense_E196K exm786427 9 131565590 [A/G] NM_018201 TBC1D13 EXON Missense_N202S exm786436 9 131565718 [A/G] NM_018201 TBC1D13 EXON Missense_D245N exm786468 9 131583067 [A/G] NM_004435,NM_016390 ENDOG,C9orf114 EXON Missense_R184H,Silent exm786469 9 131583071 [A/C] NM_004435,NM_016390 ENDOG,C9orf114 EXON Missense_S185R,Silent exm786483 9 131584720 [T/C] NM_004435,NM_016390 ENDOG,C9orf114 EXON Missense_I242T,Silent exm786485 9 131584729 [T/G] NM_004435,NM_016390 ENDOG,C9orf114 EXON Missense_R245L,Silent exm786486 9 131584732 [T/C] NM_004435,NM_016390 ENDOG,C9orf114 EXON Missense_T246I,Silent exm786491 9 131584804 [T/C] NM_004435,NM_016390 ENDOG,C9orf114 EXON Missense_I270T,Silent exm786500 9 131585069 [A/G] NM_016390 C9orf114 EXON Missense_I369T exm786518 9 131586365 [G/C] NM_016390 C9orf114 EXON Missense_Q300H exm786525 9 131587147 [G/C] NM_016390 C9orf114 EXON Missense_D238E exm786549 9 131588888 [G/C] NM_016390 C9orf114 EXON Missense_T130R exm2185803 9 131589328 [G/C] NM_016390 C9orf114 EXON Missense_E117D exm786558 9 131589410 [A/G] NM_016390 C9orf114 EXON Missense_P90L exm786564 9 131591034 [A/G] NM_016390 C9orf114 EXON Missense_A63V exm786565 9 131591047 [T/C] NM_016390 C9orf114 EXON Missense_E59K exm786568 9 131591131 [T/C] NM_016390 C9orf114 EXON Missense_E31K exm786569 9 131591138 [A/C] NM_016390 C9orf114 EXON Missense_K28N exm786582 9 131596035 [T/C] NM_001122672,NM_004059,NM_001122671 CCBL1,CCBL1,CCBL1 EXON Missense_R348H,Missense_R398H,Missense_R398H exm786587 9 131596090 [A/G] NM_001122672,NM_004059,NM_001122671 CCBL1,CCBL1,CCBL1 EXON Missense_P330S,Missense_P380S,Missense_P380S exm786589 9 131597625 [T/C] NM_001122672,NM_004059,NM_001122671 CCBL1,CCBL1,CCBL1 EXON Missense_V317I,Missense_V367I,Missense_V367I exm786593 9 131597679 [T/C] NM_001122672,NM_004059,NM_001122671 CCBL1,CCBL1,CCBL1 EXON Missense_R299G,Missense_R349G,Missense_R349G exm786596 9 131597837 [T/C] NM_001122672,NM_004059,NM_001122671 CCBL1,CCBL1,CCBL1 EXON Missense_R272H,Missense_R322H,Missense_R322H exm786597 9 131597858 [T/C] NM_001122672,NM_004059,NM_001122671 CCBL1,CCBL1,CCBL1 EXON Missense_R265H,Missense_R315H,Missense_R315H exm2185827 9 131597904 [A/G] NM_001122672,NM_004059,NM_001122671 CCBL1,CCBL1,CCBL1 EXON Missense_R250C,Missense_R300C,Missense_R300C exm2185828 9 131597934 [T/C] NM_001122672,NM_004059,NM_001122671 CCBL1,CCBL1,CCBL1 EXON Missense_E240K,Missense_E290K,Missense_E290K exm786629 9 131600011 [A/G] NM_001122672,NM_004059,NM_001122671 CCBL1,CCBL1,CCBL1 EXON Missense_R124C,Missense_R174C,Missense_R174C exm786637 9 131600410 [T/C] NM_001122672,NM_004059,NM_001122671 CCBL1,CCBL1,CCBL1 EXON Missense_I70V,Missense_I120V,Missense_I120V exm786642 9 131600579 [A/G] NM_001122672,NM_004059,NM_001122671 CCBL1,CCBL1,CCBL1 EXON Silent,Missense_P90L,Missense_P90L exm786643 9 131600585 [A/G] NM_001122672,NM_004059,NM_001122671 CCBL1,CCBL1,CCBL1 EXON Silent,Missense_I88T,Missense_I88T exm2185852 9 131604965 [T/C] NM_001122672,NM_004059,NM_001122671 CCBL1,CCBL1,CCBL1 EXON Missense_D57N,Missense_D57N,Missense_D57N exm786645 9 131604977 [T/C] NM_001122672,NM_004059,NM_001122671 CCBL1,CCBL1,CCBL1 EXON Missense_A53T,Missense_A53T,Missense_A53T exm786659 9 131669646 [T/C] NM_019594,NM_001127245,NM_001127244 LRRC8A,LRRC8A,LRRC8A EXON Missense_S68L,Missense_S68L,Missense_S68L exm786665 9 131669718 [T/C] NM_019594,NM_001127245,NM_001127244 LRRC8A,LRRC8A,LRRC8A EXON Missense_T92M,Missense_T92M,Missense_T92M exm786682 9 131670024 [T/C] NM_019594,NM_001127245,NM_001127244 LRRC8A,LRRC8A,LRRC8A EXON Missense_M194T,Missense_M194T,Missense_M194T exm786683 9 131670039 [T/C] NM_019594,NM_001127245,NM_001127244 LRRC8A,LRRC8A,LRRC8A EXON Missense_S199L,Missense_S199L,Missense_S199L exm786731 9 131671049 [A/G] NM_019594,NM_001127245,NM_001127244 LRRC8A,LRRC8A,LRRC8A EXON Missense_V536I,Missense_V536I,Missense_V536I exm786733 9 131671142 [A/G] NM_019594,NM_001127245,NM_001127244 LRRC8A,LRRC8A,LRRC8A EXON Missense_V567M,Missense_V567M,Missense_V567M exm2275238 9 131684560 [A/G] NM_174933,NM_001100876 PHYHD1,PHYHD1 Silent,Silent exm786760 9 131684607 [A/C] NM_174933,NM_001100876,NM_001100877 PHYHD1,PHYHD1,PHYHD1 EXON Missense_A2D,Missense_A2D,Missense_A2D exm786775 9 131689386 [A/T] NM_174933,NM_001100876,NM_001100877 PHYHD1,PHYHD1,PHYHD1 EXON Missense_R35W,Missense_R35W,Missense_R35W exm786776 9 131689395 [T/G] NM_174933,NM_001100876,NM_001100877 PHYHD1,PHYHD1,PHYHD1 EXON Nonsense_E38X,Nonsense_E38X,Nonsense_E38X exm786779 9 131689468 [A/G] NM_174933,NM_001100876,NM_001100877 PHYHD1,PHYHD1,PHYHD1 EXON Missense_R62Q,Missense_R62Q,Missense_R62Q exm786780 9 131696074 [A/G] NM_174933,NM_001100876,NM_001100877 PHYHD1,PHYHD1,PHYHD1 EXON Missense_Y69C,Missense_Y69C,Missense_Y69C exm786782 9 131696100 [T/C] NM_174933,NM_001100876,NM_001100877 PHYHD1,PHYHD1,PHYHD1 EXON Nonsense_R78X,Nonsense_R78X,Nonsense_R78X exm786792 9 131698784 [T/C] NM_174933,NM_001100876,NM_001100877 PHYHD1,PHYHD1,PHYHD1 Silent,Silent,Silent exm786796 9 131700036 [A/C] NM_174933,NM_001100876,NM_001100877 PHYHD1,PHYHD1,PHYHD1 EXON Silent,Missense_Q146K,Missense_Q125K exm786799 9 131700051 [A/G] NM_174933,NM_001100876,NM_001100877 PHYHD1,PHYHD1,PHYHD1 EXON Silent,Missense_G151S,Missense_G130S exm786802 9 131702681 [T/C] NM_174933,NM_001100876,NM_001100877 PHYHD1,PHYHD1,PHYHD1 EXON Missense_R157W,Missense_T164M,Missense_T143M exm786805 9 131702702 [T/C] NM_174933,NM_001100876,NM_001100877 PHYHD1,PHYHD1,PHYHD1 EXON Missense_W164R,Missense_L171P,Missense_L150P exm786806 9 131702704 [A/G] NM_174933,NM_001100876,NM_001100877 PHYHD1,PHYHD1,PHYHD1 EXON Nonsense_W164X,Missense_G172S,Missense_G151S exm786813 9 131702921 [A/G] NM_174933,NM_001100876,NM_001100877 PHYHD1,PHYHD1,PHYHD1 EXON Missense_R203H,Synonymous_A210A,Synonymous_A189A exm786816 9 131702955 [T/C] NM_174933,NM_001100876,NM_001100877 PHYHD1,PHYHD1,PHYHD1 EXON Synonymous_P214P,Missense_R222W,Missense_R201W exm786817 9 131702958 [T/G] NM_174933,NM_001100876,NM_001100877 PHYHD1,PHYHD1,PHYHD1 EXON Synonymous_G215G,Missense_D223Y,Missense_D202Y exm786822 9 131703789 [T/C] NM_174933,NM_001100876,NM_001100877 PHYHD1,PHYHD1,PHYHD1 EXON Synonymous_R249R,Missense_R257C,Missense_R236C exm786824 9 131703821 [G/C] NM_174933,NM_001100876,NM_001100877 PHYHD1,PHYHD1,PHYHD1 EXON Missense_P260R,Synonymous_A267A,Synonymous_A246A exm2185914 9 131703841 [T/C] NM_174933,NM_001100876,NM_001100877 PHYHD1,PHYHD1,PHYHD1 EXON Missense_R267W,Missense_P274L,Missense_P253L exm786825 9 131703842 [A/G] NM_174933,NM_001100876,NM_001100877 PHYHD1,PHYHD1,PHYHD1 EXON Missense_R267Q,Synonymous_P274P,Synonymous_P253P exm2185915 9 131704000 [T/C] NM_174933,NM_001100876,NM_001100877 PHYHD1,PHYHD1,PHYHD1 EXON Missense_R288C,Silent,Silent exm786830 9 131704027 [A/G] NM_174933,NM_001100876,NM_001100877 PHYHD1,PHYHD1,PHYHD1 EXON Missense_G297R,Silent,Silent exm786834 9 131708102 [T/C] NM_014908 DOLK EXON Missense_D494G exm786835 9 131708133 [T/C] NM_014908 DOLK EXON Missense_I484V exm786836 9 131708145 [T/C] NM_014908 DOLK EXON Missense_I480V exm786839 9 131708259 [T/C] NM_014908 DOLK EXON Missense_A442T exm786845 9 131708326 [G/C] NM_014908 DOLK EXON Missense_I419M exm786848 9 131708469 [A/T] NM_014908 DOLK EXON Missense_F372I exm786851 9 131708504 [T/C] NM_014908 DOLK EXON Missense_Y360C exm786852 9 131708516 [T/C] NM_014908 DOLK EXON Missense_R356Q exm786864 9 131708883 [T/C] NM_014908 DOLK EXON Missense_M234V exm786865 9 131708912 [A/T] NM_014908 DOLK EXON Missense_D224V exm786867 9 131708952 [A/G] NM_014908 DOLK EXON Missense_R211C exm2185922 9 131709203 [A/G] NM_014908 DOLK EXON Missense_V127A exm2247635 9 131709531 [T/C] NM_014908 DOLK EXON Missense_G18R exm786893 9 131710017 [A/G] NM_015354 NUP188 EXON Missense_G7R exm786903 9 131718657 [A/G] NM_015354 NUP188 EXON Missense_N64D exm786907 9 131719297 [T/C] NM_015354 NUP188 EXON Missense_R105W exm786912 9 131721120 [T/C] NM_015354 NUP188 EXON Missense_R138C exm786914 9 131721160 [T/G] NM_015354 NUP188 EXON Missense_R151I exm786919 9 131721171 [A/G] NM_015354 NUP188 EXON Missense_R155G exm786924 9 131730791 [A/C] NM_015354 NUP188 EXON Missense_R198S exm786925 9 131730804 [A/G] NM_015354 NUP188 EXON Missense_R202H exm786928 9 131730813 [T/C] NM_015354 NUP188 EXON Missense_V205A exm786929 9 131730825 [A/G] NM_015354 NUP188 EXON Missense_R209Q exm2185942 9 131741542 [A/G] NM_015354 NUP188 EXON Missense_D402G exm786964 9 131743585 [T/C] NM_015354 NUP188 EXON Missense_Y478H exm786981 9 131745252 [T/C] NM_015354 NUP188 EXON Missense_S581P exm786986 9 131745645 [T/C] NM_015354 NUP188 EXON Missense_R624C exm786988 9 131745802 [T/C] NM_015354 NUP188 EXON Missense_P645L exm786992 9 131747213 [T/C] NM_015354 NUP188 EXON Missense_L666F exm787003 9 131749996 [A/G] NM_015354 NUP188 EXON Missense_S798N exm787015 9 131755518 [A/G] NM_015354 NUP188 EXON Missense_A895T exm787031 9 131756698 [T/C] NM_015354 NUP188 EXON Missense_S1022P exm787046 9 131760464 [A/G] NM_015354 NUP188 EXON Missense_R1129H exm787051 9 131760847 [T/C] NM_015354 NUP188 EXON Missense_R1154C exm787064 9 131762008 [A/G] NM_015354 NUP188 EXON Missense_G1256D exm787065 9 131762021 [T/G] NM_015354 NUP188 EXON Missense_E1260D exm787067 9 131762062 [A/G] NM_015354 NUP188 EXON Missense_R1274Q exm787069 9 131762080 [A/G] NM_015354 NUP188 EXON Missense_D1280G exm787071 9 131763850 [A/G] NM_015354 NUP188 EXON Missense_V1296I exm787079 9 131763938 [A/G] NM_015354 NUP188 EXON Missense_R1325H exm787081 9 131763998 [A/G] NM_015354 NUP188 EXON Missense_R1345H exm787082 9 131764000 [A/G] NM_015354 NUP188 EXON Missense_T1346A exm787094 9 131765097 [T/C] NM_015354 NUP188 EXON Missense_T1380I exm787095 9 131765109 [G/C] NM_015354 NUP188 EXON Missense_S1384C exm787099 9 131765214 [T/C] NM_015354 NUP188 EXON Missense_A1419V exm787117 9 131767646 [T/C] NM_015354 NUP188 EXON Missense_A1525V exm787119 9 131767678 [A/G] NM_015354 NUP188 EXON Missense_A1536T exm787122 9 131767727 [A/G] NM_015354 NUP188 EXON Missense_Y1552C exm787123 9 131767741 [A/G] NM_015354 NUP188 EXON Missense_I1557V exm787127 9 131767806 [T/G] NM_015354 NUP188 EXON Missense_D1578E exm787131 9 131767947 [C/G] NM_015354 NUP188 EXON Missense_N1587K exm787138 9 131768577 [A/G] NM_015354 NUP188 EXON Missense_R1668Q exm787159 9 131768941 [A/G] NM_015354 NUP188 EXON Missense_R1745Q exm787172 9 131771541 [T/C] NM_020145 SH3GLB2 EXON Missense_M308I exm2186049 9 131772120 [T/C] NM_020145 SH3GLB2 EXON Missense_V257I exm787177 9 131772126 [T/C] NM_020145 SH3GLB2 EXON Missense_E255K exm787182 9 131772399 [A/G] NM_020145 SH3GLB2 EXON Synonymous_H246H exm787186 9 131772470 [T/C] NM_020145 SH3GLB2 EXON Missense_V223M exm787198 9 131774516 [A/G] NM_020145 SH3GLB2 EXON Missense_A208V exm787202 9 131774571 [A/G] NM_020145 SH3GLB2 EXON Missense_P190S exm787203 9 131774576 [A/G] NM_020145 SH3GLB2 EXON Missense_T188M exm787209 9 131777135 [A/G] NM_020145 SH3GLB2 EXON Missense_A128V exm787217 9 131784636 [T/C] NM_020145 SH3GLB2 EXON Missense_A44T exm2247640 9 131784657 [T/C] NM_020145 SH3GLB2 EXON Missense_A37T exm787232 9 131804718 [A/G] NM_032809 FAM73B EXON Missense_E78K exm787235 9 131804785 [T/C] NM_032809 FAM73B EXON Missense_V100A exm787247 9 131811693 [T/G] NM_032809 FAM73B EXON Missense_A152S exm787248 9 131811694 [T/C] NM_032809 FAM73B EXON Missense_A152V exm787250 9 131811715 [T/C] NM_032809 FAM73B EXON Missense_A159V exm787259 9 131812171 [A/G] NM_032809 FAM73B EXON Missense_D202N exm787265 9 131821484 [T/C] NM_032809 FAM73B EXON Missense_R243C exm787266 9 131821485 [A/G] NM_032809 FAM73B EXON Missense_R243H exm2247642 9 131821517 [A/G] NM_032809 FAM73B EXON Missense_T254A exm787293 9 131825843 [A/G] NM_032809 FAM73B EXON Missense_S368N exm787308 9 131830567 [A/G] NM_032809 FAM73B EXON Missense_A454T exm787333 9 131846957 [T/C] NR_072983,NM_020438,NM_001135917 DOLPP1,DOLPP1,DOLPP1 EXON Silent,Synonymous_S29S,Synonymous_S29S exm2259179 9 131846957 [T/C] NR_072983,NM_020438,NM_001135917 DOLPP1,DOLPP1,DOLPP1 EXON Silent,Synonymous_S29S,Synonymous_S29S exm787343 9 131847557 [A/G] NR_072983,NM_020438,NM_001135917 DOLPP1,DOLPP1,DOLPP1 EXON Silent,Missense_V112I,Missense_V112I exm787347 9 131847820 [A/G] NR_072983,NM_020438,NM_001135917 DOLPP1,DOLPP1,DOLPP1 EXON Silent,Missense_R129K,Missense_R129K exm787348 9 131847846 [A/G] NR_072983,NM_020438,NM_001135917 DOLPP1,DOLPP1,DOLPP1 EXON Silent,Missense_V138M,Missense_V138M exm787357 9 131848488 [A/G] NR_072983,NM_020438,NM_001135917 DOLPP1,DOLPP1,DOLPP1 EXON Silent,Missense_A178T,Silent exm787369 9 131857687 [C/G] NM_001257363,NM_000755 CRAT,CRAT EXON Missense_A603P,Missense_A624P exm2276076 9 131857713 [A/C] NM_001257363,NM_000755 CRAT,CRAT EXON Missense_R594L,Missense_R615L exm787379 9 131857834 [T/C] NM_001257363,NM_000755 CRAT,CRAT EXON Missense_G554S,Missense_G575S exm787396 9 131860292 [T/C] NM_001257363,NM_000755 CRAT,CRAT EXON Synonymous_T467T,Synonymous_T488T exm787398 9 131860311 [A/G] NM_001257363,NM_000755 CRAT,CRAT EXON Missense_M461T,Missense_M482T exm787411 9 131860562 [A/G] NM_001257363,NM_000755 CRAT,CRAT EXON Missense_F411L,Missense_F432L exm787421 9 131860901 [T/G] NM_001257363,NM_000755 CRAT,CRAT EXON Missense_L351M,Missense_L372M exm787424 9 131862152 [T/C] NM_001257363,NM_000755 CRAT,CRAT EXON Missense_E339K,Missense_E360K exm787442 9 131862903 [T/C] NM_001257363,NM_000755 CRAT,CRAT EXON Missense_T270A,Missense_T291A exm787443 9 131862918 [T/C] NM_001257363,NM_000755 CRAT,CRAT EXON Missense_V265M,Missense_V286M exm787444 9 131862944 [T/C] NM_001257363,NM_000755 CRAT,CRAT EXON Missense_R256H,Missense_R277H exm787449 9 131862957 [A/G] NM_001257363,NM_000755 CRAT,CRAT EXON Missense_R252W,Missense_R273W exm787464 9 131864818 [G/C] NM_001257363,NM_000755 CRAT,CRAT EXON Missense_G143A,Missense_G164A exm787469 9 131866467 [T/C] NM_001257363,NM_000755 CRAT,CRAT EXON Missense_R116Q,Missense_R137Q exm2247645 9 131866489 [T/C] NM_001257363,NM_000755 CRAT,CRAT EXON Missense_V109M,Missense_V130M exm787471 9 131866493 [C/G] NM_001257363,NM_000755 CRAT,CRAT EXON Missense_D107E,Missense_D128E exm787472 9 131866513 [T/C] NM_001257363,NM_000755 CRAT,CRAT EXON Missense_V101M,Missense_V122M exm787476 9 131866548 [T/C] NM_001257363,NM_000755 CRAT,CRAT EXON Missense_Y89C,Missense_Y110C exm787484 9 131870319 [A/G] NM_001257363,NM_000755 CRAT,CRAT EXON Missense_M1T,Missense_M22T exm787520 9 131891373 [A/G] NM_021131,NM_178000,NM_001271832,NM_178003,NM_178001,NM_001193397 PPP2R4,PPP2R4,PPP2R4,PPP2R4,PPP2R4,PPP2R4 EXON Missense_Y109C,Missense_Y109C,Missense_Y80C,Silent,Missense_Y144C,Missense_Y74C exm787529 9 131897131 [A/G] NM_021131,NM_178000,NM_001271832,NM_178003,NM_178001,NM_001193397 PPP2R4,PPP2R4,PPP2R4,PPP2R4,PPP2R4,PPP2R4 EXON Missense_R173Q,Missense_R173Q,Missense_R144Q,Missense_R131Q,Missense_R208Q,Missense_R138Q exm787530 9 131897161 [A/C] NM_021131,NM_178000,NM_001271832,NM_178003,NM_178001,NM_001193397 PPP2R4,PPP2R4,PPP2R4,PPP2R4,PPP2R4,PPP2R4 EXON Missense_K183T,Missense_K183T,Missense_K154T,Missense_K141T,Missense_K218T,Missense_K148T exm787531 9 131897170 [A/G] NM_021131,NM_178000,NM_001271832,NM_178003,NM_178001,NM_001193397 PPP2R4,PPP2R4,PPP2R4,PPP2R4,PPP2R4,PPP2R4 EXON Missense_N186S,Missense_N186S,Missense_N157S,Missense_N144S,Missense_N221S,Missense_N151S exm787550 9 131909711 [G/C] NM_021131,NM_178000,NM_001271832,NM_178003,NM_178001,NM_001193397 PPP2R4,PPP2R4,PPP2R4,PPP2R4,PPP2R4,PPP2R4 EXON Missense_L314V,Missense_L314V,Missense_L285V,Missense_L272V,Missense_L349V,Missense_L279V exm787552 9 131909736 [T/C] NM_021131,NM_178000,NM_001271832,NM_178003,NM_178001,NM_001193397 PPP2R4,PPP2R4,PPP2R4,PPP2R4,PPP2R4,PPP2R4 EXON Missense_S322L,Missense_S322L,Missense_S293L,Missense_S280L,Missense_S357L,Missense_S287L exm787560 9 131939292 [T/G] NM_203434 IER5L EXON Missense_S347Y exm787604 9 132084144 [A/G] NM_001012715 C9orf106 EXON Missense_E18K exm787605 9 132084181 [T/C] NM_001012715 C9orf106 EXON Missense_S30F exm787609 9 132084280 [T/C] NM_001012715 C9orf106 EXON Missense_L63P exm787611 9 132084375 [A/G] NM_001012715 C9orf106 EXON Missense_E95K exm787627 9 132084621 [A/G] NM_001012715 C9orf106 EXON Missense_G177R exm2271226 9 132127719 [T/C] exm787639 9 132374678 [T/C] NM_199350 C9orf50 EXON Missense_K415R exm787640 9 132374704 [A/C] NM_199350 C9orf50 EXON Missense_Q406H exm787647 9 132375432 [T/C] NM_199350 C9orf50 EXON Missense_R381Q exm787649 9 132375460 [A/G] NM_199350 C9orf50 EXON Missense_W372R exm787657 9 132375739 [A/G] NM_199350 C9orf50 EXON Missense_S340P exm787661 9 132375810 [C/G] NM_199350 C9orf50 EXON Missense_S316T exm787663 9 132375822 [T/C] NM_199350 C9orf50 EXON Missense_R312Q exm787664 9 132375823 [A/G] NM_199350 C9orf50 EXON Missense_R312W exm2186276 9 132377769 [A/G] NM_199350 C9orf50 EXON Missense_R292C exm787670 9 132377786 [T/C] NM_199350 C9orf50 EXON Missense_R286H exm787673 9 132377804 [A/G] NM_199350 C9orf50 EXON Missense_L280P exm787675 9 132377811 [T/C] NM_199350 C9orf50 EXON Missense_E278K exm2259181 9 132377887 [T/C] NM_199350 C9orf50 EXON Synonymous_A252A exm787682 9 132377900 [T/C] NM_199350 C9orf50 EXON Missense_R248K exm787688 9 132381848 [A/G] NM_199350 C9orf50 EXON Missense_P223S exm787690 9 132381914 [T/C] NM_199350 C9orf50 EXON Missense_G201S exm787691 9 132382043 [T/C] NM_199350 C9orf50 EXON Missense_N192S exm787693 9 132382062 [G/C] NM_199350 C9orf50 EXON Missense_G186R exm787745 9 132400086 [T/C] NM_177999,NM_017873,NM_001202403 ASB6,ASB6,ASB6 EXON Silent,Missense_V417M,Missense_V388M exm787749 9 132400129 [A/G] NM_177999,NM_017873,NM_001202403 ASB6,ASB6,ASB6 EXON Silent,Synonymous_P402P,Synonymous_P373P exm787768 9 132400660 [T/C] NM_177999,NM_017873,NM_001202403 ASB6,ASB6,ASB6 EXON Nonsense_W189X,Synonymous_V225V,Synonymous_V196V exm787769 9 132400690 [A/G] NM_177999,NM_017873,NM_001202403 ASB6,ASB6,ASB6 EXON Missense_P179L,Synonymous_T215T,Synonymous_T186T exm787771 9 132400728 [T/C] NM_177999,NM_017873,NM_001202403 ASB6,ASB6,ASB6 EXON Synonymous_T166T,Missense_V203I,Missense_V174I exm787784 9 132401752 [T/C] NM_177999,NM_017873,NM_001202403 ASB6,ASB6,ASB6 EXON Missense_V111I,Missense_V111I,Missense_V111I exm787788 9 132401757 [A/G] NM_177999,NM_017873,NM_001202403 ASB6,ASB6,ASB6 EXON Missense_I109T,Missense_I109T,Missense_I109T exm787791 9 132402834 [A/T] NM_177999,NM_017873,NM_001202403 ASB6,ASB6,ASB6 EXON Missense_N94I,Missense_N94I,Missense_N94I exm787795 9 132402868 [G/C] NM_177999,NM_017873,NM_001202403 ASB6,ASB6,ASB6 EXON Missense_R83G,Missense_R83G,Missense_R83G exm2266875 9 132436381 [A/G] NM_016307 PRRX2 Silent exm-rs7866070 9 132444099 [A/G] NM_016307 PRRX2 Silent exm2186326 9 132481557 [A/C] NM_016307 PRRX2 EXON Missense_K103Q exm787826 9 132482942 [C/G] NM_016307 PRRX2 EXON Missense_A172G exm2186330 9 132483014 [A/G] NM_016307 PRRX2 EXON Missense_S196N exm787832 9 132483023 [A/C] NM_016307 PRRX2 EXON Missense_Y199S exm2186333 9 132484575 [T/C] NM_016307 PRRX2 EXON Missense_R236C exm787848 9 132501904 [T/C] NM_004878 PTGES EXON Missense_A149T exm787849 9 132501906 [A/G] NM_004878 PTGES EXON Missense_A148V exm787866 9 132515272 [A/T] NM_004878 PTGES EXON Missense_V7E exm787867 9 132515278 [T/C] NM_004878 PTGES EXON Missense_S5N exm787879 9 132566551 [T/G] NM_014506 TOR1B EXON Missense_S133R exm787892 9 132569551 [T/C] NM_014506 TOR1B EXON Missense_P184S exm787898 9 132569605 [A/G] NM_014506 TOR1B EXON Missense_G202R exm787901 9 132569618 [A/G] NM_014506 TOR1B EXON Missense_R206H exm787913 9 132571754 [A/T] NM_014506 TOR1B EXON Missense_E301D exm787924 9 132576364 [T/C] NM_000113 TOR1A EXON Missense_I296V exm787928 9 132576427 [T/C] NM_000113 TOR1A EXON Missense_K275E exm787933 9 132576481 [A/C] NM_000113 TOR1A EXON Missense_L257V exm787945 9 132580901 [C/G] NM_000113 TOR1A EXON Missense_D216H exm787951 9 132581156 [A/G] NM_000113 TOR1A EXON Missense_A163V exm787952 9 132581169 [T/C] NM_000113 TOR1A EXON Missense_V159M exm787961 9 132584943 [T/C] NM_000113 TOR1A EXON Missense_E121K exm2247657 9 132591561 [A/G] NM_016520 C9orf78 EXON Missense_A234V exm788019 9 132595960 [T/C] NM_016520 C9orf78 EXON Missense_V58I exm788042 9 132618599 [T/C] NM_001008563,NM_006676,NM_001110303 USP20,USP20,USP20 EXON Missense_S32L,Missense_S32L,Missense_S32L exm788046 9 132620338 [G/C] NM_001008563,NM_006676,NM_001110303 USP20,USP20,USP20 EXON Missense_P49A,Missense_P49A,Missense_P49A exm788055 9 132620855 [A/C] NM_001008563,NM_006676,NM_001110303 USP20,USP20,USP20 EXON Missense_S103Y,Missense_S103Y,Missense_S103Y exm2186406 9 132630354 [T/C] NM_001008563,NM_006676,NM_001110303 USP20,USP20,USP20 EXON Missense_T254M,Missense_T254M,Missense_T254M exm788088 9 132630423 [A/G] NM_001008563,NM_006676,NM_001110303 USP20,USP20,USP20 EXON Missense_S277N,Missense_S277N,Missense_S277N exm2259184 9 132630457 [A/G] NM_001008563,NM_006676,NM_001110303 USP20,USP20,USP20 EXON Synonymous_S288S,Synonymous_S288S,Synonymous_S288S exm788090 9 132630491 [T/C] NM_001008563,NM_006676,NM_001110303 USP20,USP20,USP20 EXON Missense_R300C,Missense_R300C,Missense_R300C exm788099 9 132630582 [A/G] NM_001008563,NM_006676,NM_001110303 USP20,USP20,USP20 EXON Missense_R330H,Missense_R330H,Missense_R330H exm788107 9 132630668 [G/C] NM_001008563,NM_006676,NM_001110303 USP20,USP20,USP20 EXON Missense_D359H,Missense_D359H,Missense_D359H exm788109 9 132630677 [A/G] NM_001008563,NM_006676,NM_001110303 USP20,USP20,USP20 EXON Missense_A362T,Missense_A362T,Missense_A362T exm788113 9 132630717 [T/G] NM_001008563,NM_006676,NM_001110303 USP20,USP20,USP20 EXON Missense_C375F,Missense_C375F,Missense_C375F exm788135 9 132631970 [T/C] NM_001008563,NM_006676,NM_001110303 USP20,USP20,USP20 EXON Missense_T471M,Missense_T471M,Missense_T471M exm788139 9 132632062 [A/G] NM_001008563,NM_006676,NM_001110303 USP20,USP20,USP20 EXON Missense_A502T,Missense_A502T,Missense_A502T exm788140 9 132632122 [T/C] NM_001008563,NM_006676,NM_001110303 USP20,USP20,USP20 EXON Missense_R522W,Missense_R522W,Missense_R522W exm788147 9 132632825 [T/G] NM_001008563,NM_006676,NM_001110303 USP20,USP20,USP20 EXON Missense_K553N,Missense_K553N,Missense_K553N exm788153 9 132635785 [A/G] NM_001008563,NM_006676,NM_001110303 USP20,USP20,USP20 EXON Missense_R562Q,Missense_R562Q,Missense_R562Q exm788167 9 132636945 [A/G] NM_001008563,NM_006676,NM_001110303 USP20,USP20,USP20 EXON Missense_D611N,Missense_D611N,Missense_D611N exm788169 9 132636979 [T/C] NM_001008563,NM_006676,NM_001110303 USP20,USP20,USP20 EXON Missense_S622F,Missense_S622F,Missense_S622F exm788177 9 132637182 [A/G] NM_001008563,NM_006676,NM_001110303 USP20,USP20,USP20 EXON Missense_E666K,Missense_E666K,Missense_E666K exm788185 9 132637608 [A/G] NM_001008563,NM_006676,NM_001110303 USP20,USP20,USP20 EXON Missense_M690V,Missense_M690V,Missense_M690V exm788190 9 132637654 [A/C] NM_001008563,NM_006676,NM_001110303 USP20,USP20,USP20 EXON Missense_P705H,Missense_P705H,Missense_P705H exm788217 9 132638516 [A/G] NM_001008563,NM_006676,NM_001110303 USP20,USP20,USP20 EXON Missense_K803R,Missense_K803R,Missense_K803R exm788231 9 132641902 [A/G] NM_001008563,NM_006676,NM_001110303 USP20,USP20,USP20 EXON Missense_G855S,Missense_G855S,Missense_G855S exm788232 9 132642460 [A/G] NM_001008563,NM_006676,NM_001110303 USP20,USP20,USP20 EXON Missense_E885K,Missense_E885K,Missense_E885K exm788236 9 132642478 [A/G] NM_001008563,NM_006676,NM_001110303 USP20,USP20,USP20 EXON Missense_S891G,Missense_S891G,Missense_S891G exm788256 9 132662721 [G/C] NM_015033 FNBP1 EXON Missense_A512P exm788259 9 132662786 [T/C] NM_015033 FNBP1 EXON Missense_S490N exm788262 9 132662825 [C/G] NM_015033 FNBP1 EXON Missense_A477G exm788265 9 132671178 [A/G] NM_015033 FNBP1 EXON Missense_M429T exm2186484 9 132686148 [T/C] NM_015033 FNBP1 EXON Missense_H382R exm788286 9 132687393 [A/G] NM_015033 FNBP1 EXON Missense_P278L exm788295 9 132720770 [A/G] NM_015033 FNBP1 EXON Synonymous_S136S exm788342 9 132853218 [G/C] NM_020960,NM_001136557,NM_001136558 GPR107,GPR107,GPR107 EXON Missense_L229V,Missense_L229V,Missense_L229V exm788352 9 132854659 [T/C] NM_020960,NM_001136557,NM_001136558 GPR107,GPR107,GPR107 EXON Missense_R288W,Missense_R288W,Missense_R288W exm788353 9 132861783 [T/C] NM_020960,NM_001136557,NM_001136558 GPR107,GPR107,GPR107 EXON Missense_T304I,Missense_T304I,Missense_T304I exm788364 9 132866756 [T/C] NM_020960,NM_001136557,NM_001136558 GPR107,GPR107,GPR107 EXON Missense_Y397H,Missense_Y397H,Missense_Y397H exm788366 9 132866764 [T/G] NM_020960,NM_001136557,NM_001136558 GPR107,GPR107,GPR107 EXON Missense_L399F,Missense_L399F,Missense_L399F exm788387 9 132889813 [A/G] NM_020960,NM_001136557,NM_001136558 GPR107,GPR107,GPR107 EXON Missense_A470T,Missense_A518T,Missense_A489T exm788393 9 132890973 [T/C] NM_020960,NM_001136557,NM_001136558 GPR107,GPR107,GPR107 EXON Missense_R499C,Missense_R547C,Missense_R518C exm788409 9 132897380 [A/G] NM_020960,NM_001136557,NM_001136558 GPR107,GPR107,GPR107 EXON Missense_E547K,Missense_E595K,Missense_E566K exm788410 9 132897392 [A/G] NM_020960,NM_001136557,NM_001136558 GPR107,GPR107,GPR107 EXON Missense_A551T,Missense_A599T,Missense_A570T exm788411 9 132897395 [A/G] NM_020960,NM_001136557,NM_001136558 GPR107,GPR107,GPR107 EXON Missense_V552M,Missense_V600M,Missense_V571M exm2271155 9 133009150 [T/C] exm2259186 9 133324400 [A/G] NM_000050,NM_054012 ASS1,ASS1 Silent,Silent exm788586 9 133327612 [T/C] NM_000050,NM_054012 ASS1,ASS1 EXON Silent,Silent exm2271227 9 133343659 [T/C] NM_000050,NM_054012 ASS1,ASS1 Silent,Silent exm788643 9 133352282 [A/G] NM_000050,NM_054012 ASS1,ASS1 EXON Missense_T208A,Missense_T208A exm788647 9 133355180 [A/G] NM_000050,NM_054012 ASS1,ASS1 EXON Missense_E256K,Missense_E256K exm788652 9 133355785 [A/G] NM_000050,NM_054012 ASS1,ASS1 EXON Missense_V263M,Missense_V263M exm788656 9 133355833 [T/C] NM_000050,NM_054012 ASS1,ASS1 EXON Nonsense_R279X,Nonsense_R279X exm788666 9 133364810 [A/G] NM_000050,NM_054012 ASS1,ASS1 EXON Missense_K310R,Missense_K310R exm788671 9 133370298 [A/G] NM_000050,NM_054012 ASS1,ASS1 EXON Missense_A339T,Missense_A339T exm788679 9 133374929 [A/G] NM_000050,NM_054012 ASS1,ASS1 EXON Missense_T389A,Missense_T389A exm788680 9 133374932 [A/G] NM_000050,NM_054012 ASS1,ASS1 EXON Missense_G390R,Missense_G390R exm-rs473325 9 133394635 [T/C] exm-rs7466269 9 133464084 [A/G] NM_003934 FUBP3 Silent exm788689 9 133470891 [A/G] NM_003934 FUBP3 EXON Missense_I36V exm788694 9 133485339 [A/G] NM_003934 FUBP3 Silent exm2186625 9 133498113 [T/G] NM_003934 FUBP3 EXON Missense_A264S exm788712 9 133499040 [T/C] NM_003934 FUBP3 EXON Missense_P306L exm788722 9 133501778 [C/G] NM_003934 FUBP3 EXON Missense_A335P exm788734 9 133506083 [T/C] NM_003934 FUBP3 EXON Missense_P396S exm788738 9 133506175 [T/C] NM_003934 FUBP3 EXON Synonymous_G426G exm788742 9 133506951 [A/G] NM_003934 FUBP3 EXON Missense_N429S exm2186635 9 133506994 [A/G] NM_003934 FUBP3 EXON Synonymous_Q443Q exm788761 9 133511400 [A/G] NM_003934 FUBP3 EXON Missense_A533T exm788823 9 133569200 [C/G] NM_014285 EXOSC2 EXON Missense_P8A exm788826 9 133569210 [G/C] NM_014285 EXOSC2 EXON Missense_R11P exm788836 9 133573004 [A/G] NM_014285 EXOSC2 EXON Missense_R87Q exm788841 9 133573588 [A/C] NM_014285 EXOSC2 EXON Missense_L104M exm788862 9 133577648 [T/C] NM_014285 EXOSC2 EXON Missense_T208I exm788863 9 133577664 [A/C] NM_014285 EXOSC2 EXON Missense_E213D exm788870 9 133578474 [A/G] NM_014285 EXOSC2 EXON Missense_R236Q exm788876 9 133579133 [A/G] NM_014285 EXOSC2 EXON Missense_R285H exm788886 9 133729499 [A/G] NM_007313,NM_005157 ABL1,ABL1 EXON Missense_S62N,Missense_S43N exm788908 9 133738189 [A/G] NM_007313,NM_005157 ABL1,ABL1 EXON Missense_E216K,Missense_E197K exm788911 9 133738340 [A/G] NM_007313,NM_005157 ABL1,ABL1 EXON Missense_K266R,Missense_K247R exm788926 9 133753949 [A/G] NM_007313,NM_005157 ABL1,ABL1 EXON Missense_R492Q,Missense_R473Q exm788929 9 133755543 [T/C] NM_007313,NM_005157 ABL1,ABL1 EXON Synonymous_D523D,Synonymous_D504D exm2271228 9 133755754 [T/C] NM_007313,NM_005157 ABL1,ABL1 Silent,Silent exm788935 9 133756050 [T/C] NM_007313,NM_005157 ABL1,ABL1 EXON Synonymous_S578S,Synonymous_S559S exm788946 9 133759566 [A/G] NM_007313,NM_005157 ABL1,ABL1 EXON Missense_R649H,Missense_R630H exm788951 9 133759617 [T/C] NM_007313,NM_005157 ABL1,ABL1 EXON Missense_A666V,Missense_A647V exm788956 9 133759712 [T/G] NM_007313,NM_005157 ABL1,ABL1 EXON Missense_S698A,Missense_S679A exm788964 9 133759793 [A/G] NM_007313,NM_005157 ABL1,ABL1 EXON Missense_G725S,Missense_G706S exm2247667 9 133759794 [T/G] NM_007313,NM_005157 ABL1,ABL1 EXON Missense_G725V,Missense_G706V exm788980 9 133760093 [A/C] NM_007313,NM_005157 ABL1,ABL1 EXON Missense_P825T,Missense_P806T exm788981 9 133760094 [T/C] NM_007313,NM_005157 ABL1,ABL1 EXON Missense_P825L,Missense_P806L exm788983 9 133760106 [T/C] NM_007313,NM_005157 ABL1,ABL1 EXON Missense_P829L,Missense_P810L exm788991 9 133760258 [A/G] NM_007313,NM_005157 ABL1,ABL1 EXON Missense_A880T,Missense_A861T exm789011 9 133760592 [T/C] NM_007313,NM_005157 ABL1,ABL1 EXON Missense_S991L,Missense_S972L exm789026 9 133760804 [A/G] NM_007313,NM_005157 ABL1,ABL1 EXON Missense_I1062V,Missense_I1043V exm789042 9 133768823 [A/G] NM_198180 QRFP EXON Missense_R135W exm789044 9 133768832 [A/G] NM_198180 QRFP EXON Missense_R132C exm789051 9 133768921 [A/G] NM_198180 QRFP EXON Missense_P102L exm789055 9 133768961 [T/C] NM_198180 QRFP EXON Missense_G89R exm789057 9 133768966 [T/C] NM_198180 QRFP EXON Missense_R87H exm789060 9 133768987 [T/C] NM_198180 QRFP EXON Missense_E80G exm789064 9 133769023 [A/T] NM_198180 QRFP EXON Missense_L68H exm789069 9 133769084 [A/G] NM_198180 QRFP EXON Nonsense_R48X exm789070 9 133769086 [A/G] NM_198180 QRFP EXON Missense_P47L exm789078 9 133769150 [G/C] NM_198180 QRFP EXON Missense_E26Q exm-rs3857984 9 133776543 [A/G] exm789093 9 133779540 [T/C] NM_001145106,NM_032843 FIBCD1,FIBCD1 EXON Missense_D433N,Missense_D433N exm789098 9 133779557 [A/G] NM_001145106,NM_032843 FIBCD1,FIBCD1 EXON Missense_A427V,Missense_A427V exm2186735 9 133779687 [T/C] NM_001145106,NM_032843 FIBCD1,FIBCD1 EXON Missense_G384S,Missense_G384S exm789121 9 133780783 [T/C] NM_001145106,NM_032843 FIBCD1,FIBCD1 EXON Missense_A322T,Missense_A322T exm2247670 9 133787212 [T/C] NM_001145106,NM_032843 FIBCD1,FIBCD1 EXON Missense_G305S,Missense_G305S exm2186754 9 133799183 [A/G] NM_001145106,NM_032843 FIBCD1,FIBCD1 EXON Missense_P266L,Missense_P266L exm789184 9 133813948 [T/C] NM_001145106,NM_032843 FIBCD1,FIBCD1 EXON Missense_E16G,Missense_E16G exm789188 9 133813978 [T/C] NM_001145106,NM_032843 FIBCD1,FIBCD1 EXON Nonsense_W6X,Nonsense_W6X exm789208 9 133884891 [A/G] NM_006059 LAMC3 EXON Missense_Q97R exm789211 9 133884969 [T/G] NM_006059 LAMC3 EXON Missense_R123L exm789212 9 133901752 [T/C] NM_006059 LAMC3 EXON Missense_R152C exm789215 9 133901758 [A/G] NM_006059 LAMC3 EXON Missense_D154N exm789221 9 133901812 [A/G] NM_006059 LAMC3 EXON Missense_G172S exm789222 9 133901815 [T/C] NM_006059 LAMC3 EXON Missense_R173W exm789223 9 133901819 [A/C] NM_006059 LAMC3 EXON Missense_P174H exm789225 9 133901836 [T/C] NM_006059 LAMC3 EXON Missense_R180C exm789229 9 133901857 [A/G] NM_006059 LAMC3 EXON Missense_V187M exm789257 9 133911687 [A/G] NM_006059 LAMC3 EXON Missense_R315Q exm789263 9 133914269 [A/G] NM_006059 LAMC3 EXON Missense_R332H exm789265 9 133914274 [A/G] NM_006059 LAMC3 EXON Missense_E334K exm789267 9 133914284 [T/C] NM_006059 LAMC3 EXON Missense_T337M exm789268 9 133914293 [A/G] NM_006059 LAMC3 EXON Missense_R340Q exm789269 9 133914305 [A/G] NM_006059 LAMC3 EXON Missense_R344H exm789273 9 133914325 [T/C] NM_006059 LAMC3 EXON Missense_R351C exm789291 9 133914634 [T/A] NM_006059 LAMC3 EXON Nonsense_R428X exm789295 9 133917070 [T/C] NM_006059 LAMC3 EXON Missense_R444C exm789300 9 133920919 [T/C] NM_006059 LAMC3 EXON Missense_P464L exm789302 9 133920939 [A/C] NM_006059 LAMC3 EXON Missense_P471T exm789305 9 133920997 [T/C] NM_006059 LAMC3 EXON Missense_A490V exm789311 9 133924451 [T/C] NM_006059 LAMC3 EXON Missense_P522S exm789317 9 133927878 [A/G] NM_006059 LAMC3 EXON Missense_E544G exm2186794 9 133927922 [A/G] NM_006059 LAMC3 EXON Missense_I559V exm789321 9 133927934 [T/C] NM_006059 LAMC3 EXON Missense_R563W exm789322 9 133927935 [A/G] NM_006059 LAMC3 EXON Missense_R563Q exm789324 9 133927943 [T/C] NM_006059 LAMC3 EXON Missense_P566S exm789325 9 133927946 [A/G] NM_006059 LAMC3 EXON Missense_G567R exm789327 9 133928039 [A/G] NM_006059 LAMC3 EXON Missense_G598R exm789334 9 133928326 [A/G] NM_006059 LAMC3 EXON Missense_R638H exm2186802 9 133928352 [G/C] NM_006059 LAMC3 EXON Missense_G647R exm789347 9 133932415 [T/C] NM_006059 LAMC3 EXON Missense_T680M exm789349 9 133932442 [T/C] NM_006059 LAMC3 EXON Missense_P689L exm2271156 9 133935704 [T/G] NM_006059 LAMC3 Silent exm789359 9 133936490 [A/G] NM_006059 LAMC3 EXON Missense_N743D exm789366 9 133936539 [A/G] NM_006059 LAMC3 EXON Missense_G759D exm789370 9 133936571 [C/G] NM_006059 LAMC3 EXON Missense_R770G exm789379 9 133942389 [T/C] NM_006059 LAMC3 EXON Missense_P797L exm789381 9 133942437 [A/G] NM_006059 LAMC3 EXON Missense_S813N exm789382 9 133942438 [C/G] NM_006059 LAMC3 EXON Missense_S813R exm789386 9 133942467 [A/G] NM_006059 LAMC3 EXON Missense_N823S exm789387 9 133942488 [A/G] NM_006059 LAMC3 EXON Missense_H830R exm789390 9 133942515 [T/C] NM_006059 LAMC3 EXON Missense_T839M exm789392 9 133942545 [T/G] NM_006059 LAMC3 EXON Missense_G849V exm2186819 9 133943558 [A/G] NM_006059 LAMC3 EXON Missense_R896Q exm789409 9 133944362 [T/C] NM_006059 LAMC3 EXON Missense_R939C exm789411 9 133944365 [A/C] NM_006059 LAMC3 EXON Missense_P940T exm789425 9 133945155 [A/G] NM_006059 LAMC3 EXON Missense_R996H exm789433 9 133946902 [T/C] NM_006059 LAMC3 EXON Missense_T1034M exm789439 9 133946925 [A/G] NM_006059 LAMC3 EXON Missense_D1042N exm789440 9 133946932 [T/G] NM_006059 LAMC3 EXON Missense_G1044V exm789442 9 133946985 [A/G] NM_006059 LAMC3 EXON Missense_V1062I exm789446 9 133948049 [A/G] NM_006059 LAMC3 EXON Missense_S1082G exm2186833 9 133948055 [G/C] NM_006059 LAMC3 EXON Missense_E1084Q exm789453 9 133948124 [A/G] NM_006059 LAMC3 EXON Missense_G1107R exm789455 9 133948152 [G/C] NM_006059 LAMC3 EXON Missense_A1116G exm789456 9 133948176 [T/C] NM_006059 LAMC3 EXON Missense_S1124F exm789457 9 133948179 [T/C] NM_006059 LAMC3 EXON Missense_S1125L exm789458 9 133948184 [A/G] NM_006059 LAMC3 EXON Missense_E1127K exm789459 9 133948214 [C/G] NM_006059 LAMC3 EXON Missense_A1137P exm789478 9 133952618 [T/C] NM_006059 LAMC3 EXON Missense_V1225A exm789482 9 133952674 [A/G] NM_006059 LAMC3 EXON Missense_A1244T exm789485 9 133954548 [T/C] NM_006059 LAMC3 EXON Missense_R1264W exm789487 9 133954563 [A/G] NM_006059 LAMC3 EXON Missense_G1269S exm789498 9 133957467 [A/G] NM_006059 LAMC3 EXON Missense_A1317T exm789510 9 133961007 [A/C] NM_006059 LAMC3 EXON Missense_K1376T exm789511 9 133961010 [T/C] NM_006059 LAMC3 EXON Missense_T1377I exm789515 9 133961028 [A/T] NM_006059 LAMC3 EXON Missense_M1383K exm789516 9 133961040 [T/C] NM_006059 LAMC3 EXON Missense_A1387V exm789523 9 133962903 [A/G] NM_006059 LAMC3 EXON Missense_R1424H exm789527 9 133962930 [T/C] NM_006059 LAMC3 EXON Missense_T1433M exm789529 9 133962981 [A/G] NM_006059 LAMC3 EXON Missense_R1450H exm789530 9 133963008 [A/G] NM_006059 LAMC3 EXON Missense_R1459Q exm2274379 9 133963123 [A/G] NM_006059 LAMC3 EXON Missense_E1466K exm789534 9 133963141 [T/C] NM_006059 LAMC3 EXON Missense_R1472W exm789535 9 133963142 [A/G] NM_006059 LAMC3 EXON Missense_R1472Q exm789536 9 133963151 [A/G] NM_006059 LAMC3 EXON Missense_R1475H exm789543 9 133967007 [T/G] NM_006059 LAMC3 EXON Missense_S1521A exm2186859 9 133967106 [T/C] NM_006059 LAMC3 EXON Missense_R1554C exm2259189 9 133967150 [T/C] NM_006059 LAMC3 EXON Synonymous_P1568P exm789555 9 133967150 [T/C] NM_006059 LAMC3 EXON Synonymous_P1568P exm789567 9 133981629 [T/C] NM_001185095,NR_033701,NM_001185096,NM_031426 AIF1L,AIF1L,AIF1L,AIF1L EXON Missense_C50R,Silent,Silent,Silent exm789577 9 133987044 [T/C] NM_001185095,NR_033701,NM_001185096,NM_031426 AIF1L,AIF1L,AIF1L,AIF1L EXON Missense_F78L,Silent,Missense_F52L,Missense_F52L exm789581 9 133989973 [T/C] NM_001185095,NR_033701,NM_001185096,NM_031426 AIF1L,AIF1L,AIF1L,AIF1L EXON Missense_M83T,Silent,Missense_M57T,Missense_M57T exm789584 9 133993241 [A/G] NM_001185095,NR_033701,NM_001185096,NM_031426 AIF1L,AIF1L,AIF1L,AIF1L EXON Missense_D127N,Silent,Silent,Missense_D101N exm789587 9 133993305 [T/G] NM_001185095,NR_033701,NM_001185096,NM_031426 AIF1L,AIF1L,AIF1L,AIF1L EXON Nonsense_L148X,Silent,Silent,Nonsense_L122X exm789588 9 133995629 [A/G] NM_001185095,NR_033701,NM_001185096,NM_031426 AIF1L,AIF1L,AIF1L,AIF1L EXON Missense_M151V,Silent,Missense_D101G,Missense_M125V exm789589 9 133995634 [T/C] NM_001185095,NR_033701,NM_001185096,NM_031426 AIF1L,AIF1L,AIF1L,AIF1L EXON Synonymous_F152F,Silent,Missense_X103R,Synonymous_F126F exm789592 9 133995650 [A/G] NM_001185095,NR_033701,NM_001185096,NM_031426 AIF1L,AIF1L,AIF1L,AIF1L EXON Missense_E158K,Silent,Silent,Missense_E132K exm789593 9 133995669 [T/C] NM_001185095,NR_033701,NM_001185096,NM_031426 AIF1L,AIF1L,AIF1L,AIF1L EXON Missense_V164A,Silent,Silent,Missense_V138A exm789595 9 133995675 [T/C] NM_001185095,NR_033701,NM_001185096,NM_031426 AIF1L,AIF1L,AIF1L,AIF1L EXON Missense_P166L,Silent,Silent,Missense_P140L exm789607 9 134001105 [T/C] NM_005085 NUP214 EXON Missense_M5T exm789613 9 134002977 [T/C] NM_005085 NUP214 EXON Missense_R38C exm789623 9 134003794 [T/C] NM_005085 NUP214 EXON Missense_T106I exm789624 9 134003803 [T/C] NM_005085 NUP214 EXON Missense_A109V exm789639 9 134004864 [A/G] NM_005085 NUP214 EXON Missense_V198M exm2259190 9 134010332 [A/C] NM_005085 NUP214 EXON Synonymous_P293P exm789654 9 134010349 [T/C] NM_005085 NUP214 EXON Missense_T299M exm789655 9 134010381 [A/G] NM_005085 NUP214 EXON Missense_I310V exm789668 9 134016059 [A/G] NM_005085 NUP214 EXON Missense_R419Q exm789669 9 134016094 [T/C] NM_005085 NUP214 EXON Missense_P431S exm789676 9 134019839 [C/G] NM_005085 NUP214 EXON Missense_L489F exm789683 9 134019961 [T/C] NM_005085 NUP214 EXON Missense_L530P exm789687 9 134019979 [T/C] NM_005085 NUP214 EXON Missense_A536V exm789690 9 134020006 [T/C] NM_005085 NUP214 EXON Missense_S545L exm789691 9 134020011 [T/G] NM_005085 NUP214 EXON Missense_S547A exm789694 9 134020086 [A/G] NM_005085 NUP214 EXON Missense_M572V exm789695 9 134020092 [T/C] NM_005085 NUP214 EXON Missense_P574S exm789697 9 134020129 [A/C] NM_005085 NUP214 EXON Missense_N586T exm789701 9 134021569 [T/C] NM_005085 NUP214 EXON Missense_P608L exm789707 9 134021631 [T/C] NM_005085 NUP214 EXON Missense_P629S exm789716 9 134026073 [G/C] NM_005085 NUP214 EXON Missense_T733S exm789717 9 134026097 [A/G] NM_005085 NUP214 EXON Missense_R741Q exm789723 9 134027138 [A/G] NM_005085 NUP214 EXON Missense_I765V exm789732 9 134038428 [A/G] NM_005085 NUP214 EXON Missense_N864S exm789734 9 134038431 [A/G] NM_005085 NUP214 EXON Missense_R865Q exm789738 9 134038504 [A/C] NM_005085 NUP214 EXON Missense_K889N exm789753 9 134049588 [T/C] NM_005085 NUP214 EXON Missense_R1014W exm789763 9 134050955 [G/C] NM_005085 NUP214 EXON Missense_P1089R exm789766 9 134050985 [A/G] NM_005085 NUP214 EXON Missense_R1099Q exm789789 9 134072800 [T/A] NM_005085 NUP214 EXON Missense_S1307T exm789791 9 134072822 [T/C] NM_005085 NUP214 EXON Missense_P1314L exm789793 9 134072833 [A/G] NM_005085 NUP214 EXON Missense_G1318R exm789804 9 134072983 [A/G] NM_005085 NUP214 EXON Missense_V1368M exm789821 9 134073289 [A/G] NM_005085 NUP214 EXON Missense_T1470A exm789832 9 134073656 [C/G] NM_005085 NUP214 EXON Missense_G1592A exm789837 9 134073709 [A/G] NM_005085 NUP214 EXON Missense_E1610K exm789839 9 134073721 [A/G] NM_005085 NUP214 EXON Missense_T1614A exm789849 9 134073898 [G/C] NM_005085 NUP214 EXON Missense_V1673L exm789860 9 134074118 [C/G] NM_005085 NUP214 EXON Missense_S1746T exm789864 9 134074243 [G/C] NM_005085 NUP214 EXON Missense_Q1788E exm789870 9 134074288 [A/G] NM_005085 NUP214 EXON Missense_A1803T exm789880 9 134090726 [A/G] NM_005085 NUP214 EXON Missense_S1907N exm789885 9 134098206 [C/G] NM_005085 NUP214 EXON Missense_G1931R exm789906 9 134106048 [A/G] NM_005085 NUP214 EXON Missense_G2036S exm789916 9 134107689 [A/G] NM_005085 NUP214 EXON Missense_N2078S exm789931 9 134136258 [T/C] NM_033387 FAM78A EXON Missense_R268Q exm789940 9 134136409 [T/C] NM_033387 FAM78A EXON Missense_E218K exm789984 9 134165410 [A/G] NM_032728 PPAPDC3 EXON Missense_R9H exm789992 9 134165546 [A/C] NM_032728 PPAPDC3 EXON Missense_D54E exm790002 9 134165718 [A/G] NM_032728 PPAPDC3 EXON Missense_M112V exm790025 9 134183379 [T/C] NM_032728 PPAPDC3 EXON Missense_T174M exm790036 9 134183525 [T/C] NM_032728 PPAPDC3 EXON Missense_L223F exm790037 9 134183544 [A/G] NM_032728 PPAPDC3 EXON Missense_R229H exm790043 9 134183585 [A/G] NM_032728 PPAPDC3 EXON Missense_G243S exm790044 9 134183597 [A/G] NM_032728 PPAPDC3 EXON Missense_G247S exm790049 9 134305632 [T/C] NM_013318 PRRC2B EXON Missense_A34V exm790055 9 134308126 [A/G] NM_013318 PRRC2B EXON Missense_V80I exm790063 9 134312107 [A/G] NM_013318 PRRC2B EXON Missense_E132K exm790071 9 134321941 [A/G] NM_013318 PRRC2B EXON Missense_R256H exm790074 9 134321955 [A/G] NM_013318 PRRC2B EXON Missense_V261I exm790080 9 134322503 [A/G] NM_013318 PRRC2B EXON Missense_G296D exm790095 9 134334619 [A/G] NM_013318 PRRC2B EXON Missense_R427Q exm2187019 9 134334667 [A/G] NM_013318 PRRC2B EXON Missense_R443H exm790103 9 134340173 [A/C] NM_013318 PRRC2B EXON Missense_F476L exm790112 9 134340444 [A/G] NM_013318 PRRC2B EXON Missense_N567D exm790118 9 134343122 [T/G] NM_013318 PRRC2B EXON Missense_Q631H exm790124 9 134346253 [A/C] NM_013318 PRRC2B EXON Missense_H664N exm790136 9 134348972 [T/C] NM_013318 PRRC2B EXON Missense_P729S exm790151 9 134349104 [T/C] NM_013318 PRRC2B EXON Missense_R773C exm790152 9 134349105 [A/G] NM_013318 PRRC2B EXON Missense_R773H exm790158 9 134349957 [T/C] NM_013318 PRRC2B EXON Missense_A814V exm2259192 9 134350018 [A/G] NM_013318 PRRC2B EXON Synonymous_Q834Q exm790162 9 134350018 [A/G] NM_013318 PRRC2B EXON Synonymous_Q834Q exm790171 9 134350218 [T/C] NM_013318 PRRC2B EXON Missense_S901F exm790176 9 134350305 [T/C] NM_013318 PRRC2B EXON Missense_P930L exm790183 9 134350458 [T/C] NM_013318 PRRC2B EXON Missense_P981L exm790188 9 134350647 [T/C] NM_013318 PRRC2B EXON Missense_M1044T exm790201 9 134350851 [T/C] NM_013318 PRRC2B EXON Missense_L1112P exm790207 9 134350976 [A/G] NM_013318 PRRC2B EXON Missense_E1154K exm790215 9 134351084 [A/G] NM_013318 PRRC2B EXON Missense_G1190S exm790219 9 134351174 [A/G] NM_013318 PRRC2B EXON Missense_V1220I exm790223 9 134351273 [A/G] NM_013318 PRRC2B EXON Missense_R1253G exm790229 9 134351324 [G/C] NM_013318 PRRC2B EXON Missense_G1270R exm790230 9 134351333 [T/G] NM_013318 PRRC2B EXON Missense_D1273Y exm790231 9 134351343 [T/C] NM_013318 PRRC2B EXON Missense_A1276V exm790247 9 134351730 [T/G] NM_013318 PRRC2B EXON Missense_L1405R exm790253 9 134353141 [A/G] NM_013318 PRRC2B EXON Missense_E1473K exm790254 9 134353151 [G/C] NM_013318 PRRC2B EXON Missense_P1476R exm790255 9 134353170 [G/C] NM_013318 PRRC2B EXON Missense_C1482W exm790260 9 134353213 [T/G] NM_013318 PRRC2B EXON Missense_A1497S exm790273 9 134353984 [A/G] NM_013318 PRRC2B EXON Missense_R1579K exm790285 9 134357164 [T/C] NM_013318 PRRC2B EXON Missense_A1651V exm790294 9 134357909 [A/C] NM_013318 PRRC2B EXON Missense_D1712A exm790295 9 134357947 [A/C] NM_013318 PRRC2B EXON Missense_K1725Q exm790301 9 134358244 [A/G] NM_013318 PRRC2B EXON Missense_V1775M exm790318 9 134360401 [A/G] NM_013318 PRRC2B EXON Missense_A1878T exm790326 9 134361483 [T/C] NM_013318 PRRC2B EXON Missense_P1924S exm790330 9 134361546 [A/C] NM_013318 PRRC2B EXON Missense_P1945T exm790337 9 134362654 [A/G] NM_013318 PRRC2B EXON Missense_E1986G exm790348 9 134363391 [A/G] NM_013318 PRRC2B EXON Missense_M2045V exm790349 9 134363418 [A/G] NM_013318 PRRC2B EXON Missense_E2054K exm790357 9 134366847 [C/G] NM_013318 PRRC2B EXON Missense_Q2087H exm790368 9 134367620 [A/G] NM_013318 PRRC2B EXON Missense_G2149D exm2187101 9 134371163 [C/G] NM_013318 PRRC2B EXON Missense_A2198P exm790402 9 134382859 [T/C] NM_001077365,NM_001136113,NM_007171,NM_001077366,NM_001136114 POMT1,POMT1,POMT1,POMT1,POMT1 EXON Missense_S129P,Missense_S129P,Missense_S129P,Missense_S75P,Missense_S12P exm790409 9 134385176 [A/G] NM_001077365,NM_001136113,NM_007171,NM_001077366,NM_001136114 POMT1,POMT1,POMT1,POMT1,POMT1 EXON Missense_A196T,Missense_A196T,Missense_A196T,Missense_A142T,Missense_A79T exm790413 9 134385382 [A/G] NM_001077365,NM_001136113,NM_007171,NM_001077366,NM_001136114 POMT1,POMT1,POMT1,POMT1,POMT1 EXON Missense_N233S,Missense_N233S,Missense_N233S,Missense_N179S,Missense_N116S exm790419 9 134385435 [T/C] NM_001077365,NM_001136113,NM_007171,NM_001077366,NM_001136114 POMT1,POMT1,POMT1,POMT1,POMT1 EXON Silent,Silent,Nonsense_Q251X,Silent,Silent exm790420 9 134385436 [A/G] NM_001077365,NM_001136113,NM_007171,NM_001077366,NM_001136114 POMT1,POMT1,POMT1,POMT1,POMT1 EXON Silent,Silent,Missense_Q251R,Silent,Silent exm790427 9 134385699 [T/C] NM_001077365,NM_001136113,NM_007171,NM_001077366,NM_001136114 POMT1,POMT1,POMT1,POMT1,POMT1 EXON Missense_P251L,Missense_P251L,Missense_P273L,Missense_P197L,Missense_P134L exm790428 9 134385736 [G/C] NM_001077365,NM_001136113,NM_007171,NM_001077366,NM_001136114 POMT1,POMT1,POMT1,POMT1,POMT1 EXON Missense_L263F,Missense_L263F,Missense_L285F,Missense_L209F,Missense_L146F exm790437 9 134386781 [A/G] NM_001077365,NM_001136113,NM_007171,NM_001077366,NM_001136114 POMT1,POMT1,POMT1,POMT1,POMT1 EXON Missense_V305I,Missense_V305I,Missense_V327I,Missense_V251I,Missense_V188I exm790449 9 134388660 [G/C] NM_001077365,NM_001136113,NM_007171,NM_001077366,NM_001136114 POMT1,POMT1,POMT1,POMT1,POMT1 EXON Missense_V373L,Missense_V373L,Missense_V395L,Missense_V319L,Missense_V256L exm790451 9 134388669 [A/G] NM_001077365,NM_001136113,NM_007171,NM_001077366,NM_001136114 POMT1,POMT1,POMT1,POMT1,POMT1 EXON Missense_G376R,Missense_G376R,Missense_G398R,Missense_G322R,Missense_G259R exm790454 9 134388706 [A/G] NM_001077365,NM_001136113,NM_007171,NM_001077366,NM_001136114 POMT1,POMT1,POMT1,POMT1,POMT1 EXON Missense_R388H,Missense_R388H,Missense_R410H,Missense_R334H,Missense_R271H exm2187131 9 134388709 [T/C] NM_001077365,NM_001136113,NM_007171,NM_001077366,NM_001136114 POMT1,POMT1,POMT1,POMT1,POMT1 EXON Missense_S389F,Missense_S389F,Missense_S411F,Missense_S335F,Missense_S272F exm790458 9 134390870 [A/C] NM_001077365,NM_001136113,NM_007171,NM_001077366,NM_001136114 POMT1,POMT1,POMT1,POMT1,POMT1 EXON Missense_D411E,Missense_D411E,Missense_D433E,Missense_D357E,Missense_D294E exm790485 9 134394343 [A/G] NM_001077365,NM_001136113,NM_007171,NM_001077366,NM_001136114 POMT1,POMT1,POMT1,POMT1,POMT1 EXON Synonymous_A495A,Synonymous_A495A,Synonymous_A517A,Synonymous_A441A,Synonymous_A378A exm790487 9 134394788 [A/G] NM_001077365,NM_001136113,NM_007171,NM_001077366,NM_001136114 POMT1,POMT1,POMT1,POMT1,POMT1 EXON Missense_R500K,Missense_R500K,Missense_R522K,Missense_R446K,Missense_R383K exm790492 9 134394834 [G/C] NM_001077365,NM_001136113,NM_007171,NM_001077366,NM_001136114 POMT1,POMT1,POMT1,POMT1,POMT1 EXON Missense_S515R,Missense_S515R,Missense_S537R,Missense_S461R,Missense_S398R exm790494 9 134395480 [T/C] NM_001077365,NM_001136113,NM_007171,NM_001077366,NM_001136114 POMT1,POMT1,POMT1,POMT1,POMT1 EXON Missense_A533V,Missense_A533V,Missense_A555V,Missense_A479V,Missense_A416V exm790498 9 134395580 [T/C] NM_001077365,NM_001136113,NM_007171,NM_001077366,NM_001136114 POMT1,POMT1,POMT1,POMT1,POMT1 EXON Synonymous_S566S,Synonymous_S566S,Synonymous_S588S,Synonymous_S512S,Synonymous_S449S exm790502 9 134396761 [T/C] NM_001077365,NM_001136113,NM_007171,NM_001077366,NM_001136114 POMT1,POMT1,POMT1,POMT1,POMT1 EXON Missense_V576A,Missense_V576A,Missense_V598A,Missense_V522A,Missense_V459A exm790517 9 134397464 [T/C] NM_001077365,NM_001136113,NM_007171,NM_001077366,NM_001136114 POMT1,POMT1,POMT1,POMT1,POMT1 EXON Missense_A619V,Missense_A619V,Missense_A641V,Missense_A565V,Missense_A502V exm790519 9 134397475 [A/G] NM_001077365,NM_001136113,NM_007171,NM_001077366,NM_001136114 POMT1,POMT1,POMT1,POMT1,POMT1 EXON Missense_G623S,Missense_G623S,Missense_G645S,Missense_G569S,Missense_G506S exm790520 9 134397500 [T/C] NM_001077365,NM_001136113,NM_007171,NM_001077366,NM_001136114 POMT1,POMT1,POMT1,POMT1,POMT1 EXON Missense_P631L,Missense_P631L,Missense_P653L,Missense_P577L,Missense_P514L exm790529 9 134398375 [T/C] NM_001077365,NM_001136113,NM_007171,NM_001077366,NM_001136114 POMT1,POMT1,POMT1,POMT1,POMT1 EXON Missense_A687V,Missense_A687V,Missense_A709V,Missense_A633V,Missense_A570V exm790533 9 134398398 [T/C] NM_001077365,NM_001136113,NM_007171,NM_001077366,NM_001136114 POMT1,POMT1,POMT1,POMT1,POMT1 EXON Missense_R695C,Missense_R695C,Missense_R717C,Missense_R641C,Missense_R578C exm790537 9 134398452 [T/C] NM_001077365,NM_001136113,NM_007171,NM_001077366,NM_001136114 POMT1,POMT1,POMT1,POMT1,POMT1 EXON Missense_R713C,Missense_R713C,Missense_R735C,Missense_R659C,Missense_R596C exm2187165 9 134398482 [T/C] NM_001077365,NM_001136113,NM_007171,NM_001077366,NM_001136114 POMT1,POMT1,POMT1,POMT1,POMT1 EXON Nonsense_R723X,Nonsense_R723X,Nonsense_R745X,Nonsense_R669X,Nonsense_R606X exm790539 9 134398483 [A/G] NM_001077365,NM_001136113,NM_007171,NM_001077366,NM_001136114 POMT1,POMT1,POMT1,POMT1,POMT1 EXON Missense_R723Q,Missense_R723Q,Missense_R745Q,Missense_R669Q,Missense_R606Q exm790561 9 134401335 [T/C] NM_031432,NM_001261450,NM_001135954,NM_001261451 UCK1,UCK1,UCK1,UCK1 EXON Synonymous_P211P,Synonymous_P202P,Missense_A180T,Synonymous_P216P exm790573 9 134404557 [C/G] NM_031432,NM_001261450,NM_001135954,NM_001261451 UCK1,UCK1,UCK1,UCK1 EXON Missense_L156V,Missense_L147V,Missense_L156V,Missense_L161V exm790579 9 134405874 [T/G] NM_031432,NM_001261450,NM_001135954,NM_001261451 UCK1,UCK1,UCK1,UCK1 EXON Synonymous_P89P,Synonymous_P80P,Synonymous_P89P,Synonymous_P94P exm2266877 9 134422439 [A/G] exm790589 9 134454900 [T/C] NM_198679,NM_005312 RAPGEF1,RAPGEF1 EXON Missense_R1091Q,Missense_R1073Q exm-rs4740287 9 134457759 [A/G] NM_198679,NM_005312 RAPGEF1,RAPGEF1 Silent,Silent exm790605 9 134458089 [A/C] NM_198679,NM_005312 RAPGEF1,RAPGEF1 EXON Missense_G971C,Missense_G953C exm790640 9 134477458 [T/C] NM_198679,NM_005312 RAPGEF1,RAPGEF1 EXON Missense_G663S,Missense_G645S exm790683 9 134501369 [G/C] NM_198679,NM_005312 RAPGEF1,RAPGEF1 EXON Missense_P549A,Missense_P531A exm790687 9 134501419 [T/G] NM_198679,NM_005312 RAPGEF1,RAPGEF1 EXON Missense_Q532P,Missense_Q514P exm790697 9 134501651 [A/G] NM_198679,NM_005312 RAPGEF1,RAPGEF1 EXON Missense_H455Y,Missense_H437Y exm790698 9 134501677 [A/G] NM_198679,NM_005312 RAPGEF1,RAPGEF1 EXON Missense_P446L,Missense_P428L exm790703 9 134501726 [T/A] NM_198679,NM_005312 RAPGEF1,RAPGEF1 EXON Missense_S430C,Missense_S412C exm790709 9 134503323 [T/C] NM_198679,NM_005312 RAPGEF1,RAPGEF1 EXON Missense_R394Q,Missense_R376Q exm790724 9 134504616 [A/G] NM_198679,NM_005312 RAPGEF1,RAPGEF1 EXON Missense_R257C,Missense_R239C exm790730 9 134505678 [A/G] NM_198679,NM_005312 RAPGEF1,RAPGEF1 EXON Missense_R230C,Missense_R212C exm790734 9 134514071 [A/G] NM_198679,NM_005312 RAPGEF1,RAPGEF1 EXON Missense_M202T,Missense_M184T exm2271229 9 134711461 [T/C] exm790773 9 134769364 [T/C] NM_001253881,NM_004269 MED27,MED27 EXON Silent,Missense_V197M exm2259193 9 134987645 [A/C] exm790797 9 135042352 [A/G] NM_032536 NTNG2 EXON Missense_R45H exm790822 9 135073686 [G/C] NM_032536 NTNG2 EXON Missense_R183G exm2262604 9 135077361 [A/C] NM_032536 NTNG2 Silent exm790856 9 135105964 [A/G] NM_032536 NTNG2 EXON Missense_T346A exm790882 9 135139669 [A/G] NM_015046 SETX EXON Missense_L2664P exm790884 9 135139678 [T/C] NM_015046 SETX EXON Missense_K2661R exm790891 9 135139790 [A/C] NM_015046 SETX EXON Missense_D2624Y exm790892 9 135139826 [T/C] NM_015046 SETX EXON Missense_S2612G exm790894 9 135139873 [C/G] NM_015046 SETX EXON Missense_A2596G exm790896 9 135139901 [T/C] NM_015046 SETX EXON Missense_I2587V exm790898 9 135139936 [A/G] NM_015046 SETX EXON Missense_P2575L exm790905 9 135140020 [A/G] NM_015046 SETX EXON Missense_I2547T exm790906 9 135140063 [A/G] NM_015046 SETX EXON Missense_H2533Y exm790908 9 135140170 [T/C] NM_015046 SETX EXON Missense_S2497N exm790910 9 135140228 [T/C] NM_015046 SETX EXON Missense_T2478A exm790920 9 135145055 [T/C] NM_015046 SETX EXON Missense_I2412V exm790925 9 135147182 [T/C] NM_015046 SETX EXON Missense_D2372N exm790927 9 135147195 [T/C] NM_015046 SETX EXON Synonymous_G2367G exm2187360 9 135158775 [T/C] NM_015046 SETX EXON Missense_Q2141R exm2187370 9 135163984 [T/C] NM_015046 SETX EXON Missense_S2054N exm790959 9 135164037 [T/C] NM_015046 SETX EXON Synonymous_G2036G exm790963 9 135171352 [T/C] NM_015046 SETX EXON Missense_V2005M exm790981 9 135173685 [T/C] NM_015046 SETX EXON Missense_T1855A exm790986 9 135176092 [T/C] NM_015046 SETX EXON Missense_T1825A exm791010 9 135202003 [C/G] NM_015046 SETX EXON Missense_P1661R exm791014 9 135202069 [T/G] NM_015046 SETX EXON Missense_Q1639P exm791025 9 135202373 [A/G] NM_015046 SETX EXON Missense_R1538W exm791034 9 135202552 [T/G] NM_015046 SETX EXON Missense_A1478E exm2259194 9 135202626 [T/C] NM_015046 SETX EXON Synonymous_T1453T exm2187399 9 135202781 [T/A] NM_015046 SETX EXON Missense_T1402S exm791042 9 135202829 [T/C] NM_015046 SETX EXON Missense_I1386V exm791044 9 135202889 [A/G] NM_015046 SETX EXON Missense_S1366P exm791050 9 135202993 [A/G] NM_015046 SETX EXON Missense_P1331L exm791053 9 135203020 [T/G] NM_015046 SETX EXON Missense_T1322N exm791055 9 135203159 [C/G] NM_015046 SETX EXON Missense_Q1276E exm791057 9 135203176 [A/G] NM_015046 SETX EXON Missense_P1270L exm791058 9 135203231 [T/C] NM_015046 SETX EXON Missense_G1252R exm791060 9 135203322 [G/C] NM_015046 SETX EXON Missense_K1221N exm791062 9 135203335 [A/G] NM_015046 SETX EXON Missense_T1217M exm791067 9 135203409 [A/C] NM_015046 SETX EXON Missense_D1192E exm791068 9 135203417 [T/C] NM_015046 SETX EXON Missense_K1190E exm791070 9 135203530 [A/C] NM_015046 SETX EXON Missense_F1152C exm791080 9 135203675 [C/G] NM_015046 SETX EXON Missense_Q1104E exm791083 9 135203756 [T/C] NM_015046 SETX EXON Missense_D1077N exm791087 9 135203803 [A/G] NM_015046 SETX EXON Missense_P1061L exm791090 9 135203882 [T/C] NM_015046 SETX EXON Missense_K1035E exm791096 9 135203969 [T/C] NM_015046 SETX EXON Missense_G1006R exm791097 9 135203975 [T/C] NM_015046 SETX EXON Missense_N1004D exm791098 9 135204004 [T/C] NM_015046 SETX EXON Missense_D994G exm791099 9 135204010 [T/C] NM_015046 SETX EXON Missense_K992R exm791113 9 135204313 [A/G] NM_015046 SETX EXON Missense_V891A exm791119 9 135204506 [T/C] NM_015046 SETX EXON Missense_K827E exm2187409 9 135204516 [C/G] NM_015046 SETX EXON Missense_F823L exm791125 9 135204584 [T/C] NM_015046 SETX EXON Missense_K801E exm791127 9 135204590 [A/G] NM_015046 SETX EXON Missense_H799Y exm791130 9 135204703 [A/G] NM_015046 SETX EXON Missense_S761L exm791133 9 135204769 [T/C] NM_015046 SETX EXON Missense_G739E exm791138 9 135204872 [T/G] NM_015046 SETX EXON Missense_I705L exm791142 9 135205006 [C/G] NM_015046 SETX EXON Missense_A660G exm791144 9 135205028 [T/G] NM_015046 SETX EXON Missense_Q653K exm791145 9 135205116 [T/G] NM_015046 SETX EXON Missense_E623D exm791149 9 135205178 [T/C] NM_015046 SETX EXON Missense_N603D exm791155 9 135205292 [A/G] NM_015046 SETX EXON Missense_F565L exm791168 9 135205594 [A/G] NM_015046 SETX EXON Missense_S464L exm791180 9 135205871 [T/G] NM_015046 SETX EXON Missense_T372P exm791183 9 135206471 [T/C] NM_015046 SETX EXON Missense_V356I exm791197 9 135211684 [T/C] NM_015046 SETX EXON Synonymous_L239L exm791198 9 135211691 [T/C] NM_015046 SETX EXON Missense_Y237C exm791202 9 135211747 [G/C] NM_015046 SETX EXON Missense_K218N exm791207 9 135218103 [A/C] NM_015046 SETX EXON Missense_L158V exm791209 9 135218185 [A/G] NM_015046 SETX EXON Synonymous_N130N exm791229 9 135224757 [T/C] NM_015046 SETX EXON Missense_R20H exm791233 9 135224812 [T/C] NM_015046 SETX EXON Missense_S2G exm791239 9 135251366 [A/G] NM_001205296,NM_007344 TTF1,TTF1 EXON Missense_A370V,Missense_A885V exm791249 9 135254512 [T/C] NM_001205296,NM_007344 TTF1,TTF1 EXON Missense_V285I,Missense_V800I exm2259195 9 135266013 [C/G] NM_001205296,NM_007344 TTF1,TTF1 EXON Synonymous_T216T,Synonymous_T731T exm791259 9 135266013 [C/G] NM_001205296,NM_007344 TTF1,TTF1 EXON Synonymous_T216T,Synonymous_T731T exm791273 9 135271868 [A/G] NM_001205296,NM_007344 TTF1,TTF1 EXON Missense_I88T,Missense_I603T exm791277 9 135273597 [C/G] NM_001205296,NM_007344 TTF1,TTF1 EXON Missense_D55H,Missense_D570H exm2275339 9 135273601 [A/G] NM_001205296,NM_007344 TTF1,TTF1 EXON Synonymous_Y53Y,Synonymous_Y568Y exm791285 9 135273692 [T/C] NM_001205296,NM_007344 TTF1,TTF1 EXON Missense_K23R,Missense_K538R exm791288 9 135275530 [T/C] NM_001205296,NM_007344 TTF1,TTF1 EXON Silent,Missense_V495M exm791290 9 135275592 [A/G] NM_001205296,NM_007344 TTF1,TTF1 EXON Silent,Missense_I474T exm791292 9 135275618 [A/C] NM_001205296,NM_007344 TTF1,TTF1 EXON Silent,Missense_N465K exm791294 9 135276848 [A/G] NM_001205296,NM_007344 TTF1,TTF1 EXON Silent,Missense_A454V exm791295 9 135276896 [T/C] NM_001205296,NM_007344 TTF1,TTF1 EXON Silent,Missense_R438Q exm791297 9 135276957 [T/G] NM_001205296,NM_007344 TTF1,TTF1 EXON Silent,Missense_L418I exm791300 9 135277007 [T/C] NM_001205296,NM_007344 TTF1,TTF1 EXON Silent,Missense_R401Q exm791308 9 135277130 [A/C] NM_001205296,NM_007344 TTF1,TTF1 EXON Silent,Missense_G360V exm791309 9 135277136 [A/G] NM_001205296,NM_007344 TTF1,TTF1 EXON Silent,Missense_P358L exm791312 9 135277161 [T/G] NM_001205296,NM_007344 TTF1,TTF1 EXON Silent,Missense_P350T exm791313 9 135277166 [C/G] NM_001205296,NM_007344 TTF1,TTF1 EXON Silent,Missense_A348G exm791317 9 135277269 [G/C] NM_001205296,NM_007344 TTF1,TTF1 EXON Silent,Missense_V314L exm791318 9 135277288 [T/C] NM_001205296,NM_007344 TTF1,TTF1 EXON Silent,Missense_M307I exm791320 9 135277301 [A/G] NM_001205296,NM_007344 TTF1,TTF1 EXON Silent,Missense_V303A exm791322 9 135277330 [T/C] NM_001205296,NM_007344 TTF1,TTF1 EXON Silent,Missense_M293I exm791324 9 135277341 [A/C] NM_001205296,NM_007344 TTF1,TTF1 EXON Silent,Missense_A290S exm791329 9 135277401 [T/C] NM_001205296,NM_007344 TTF1,TTF1 EXON Silent,Missense_T270A exm791332 9 135277452 [A/G] NM_001205296,NM_007344 TTF1,TTF1 EXON Silent,Missense_S253P exm2187484 9 135277472 [A/G] NM_001205296,NM_007344 TTF1,TTF1 EXON Silent,Missense_A246V exm791333 9 135277474 [A/C] NM_001205296,NM_007344 TTF1,TTF1 EXON Silent,Missense_E245D exm791336 9 135277512 [T/C] NM_001205296,NM_007344 TTF1,TTF1 EXON Silent,Missense_T233A exm791337 9 135277517 [T/A] NM_001205296,NM_007344 TTF1,TTF1 EXON Silent,Missense_Y231F exm791339 9 135277523 [T/C] NM_001205296,NM_007344 TTF1,TTF1 EXON Silent,Missense_R229Q exm791340 9 135277524 [A/G] NM_001205296,NM_007344 TTF1,TTF1 EXON Silent,Missense_R229W exm791341 9 135277527 [T/G] NM_001205296,NM_007344 TTF1,TTF1 EXON Silent,Missense_N228H exm791342 9 135277529 [T/C] NM_001205296,NM_007344 TTF1,TTF1 EXON Silent,Missense_S227N exm791360 9 135278022 [T/C] NM_001205296,NM_007344 TTF1,TTF1 EXON Silent,Missense_I63V exm791376 9 135285690 [T/C] NM_207417 C9orf171 EXON Missense_L11P exm791383 9 135285791 [T/A] NM_207417 C9orf171 EXON Missense_M45L exm791388 9 135285840 [T/C] NM_207417 C9orf171 EXON Missense_P61L exm2266878 9 135338596 [A/G] NM_207417 C9orf171 Silent exm791403 9 135374091 [A/G] NM_207417 C9orf171 EXON Missense_G105S exm791406 9 135374154 [T/C] NM_207417 C9orf171 EXON Nonsense_R126X exm791408 9 135374161 [T/C] NM_207417 C9orf171 EXON Missense_L128P exm791410 9 135374764 [A/G] NM_207417 C9orf171 EXON Missense_G137R exm791415 9 135374806 [A/G] NM_207417 C9orf171 EXON Missense_E151K exm791421 9 135374869 [T/C] NM_207417 C9orf171 EXON Missense_R172W exm791423 9 135374887 [T/C] NM_207417 C9orf171 EXON Missense_R178C exm791428 9 135374906 [A/G] NM_207417 C9orf171 EXON Missense_R184H exm791430 9 135374927 [A/G] NM_207417 C9orf171 EXON Missense_R191Q exm791433 9 135374948 [A/C] NM_207417 C9orf171 EXON Missense_P198H exm791445 9 135412993 [T/C] NM_207417 C9orf171 EXON Missense_S213F exm791448 9 135413085 [A/C] NM_207417 C9orf171 EXON Missense_K244Q exm791455 9 135418393 [A/G] NM_207417 C9orf171 EXON Missense_V267M exm791464 9 135447814 [T/C] NM_207417 C9orf171 EXON Missense_R294C exm791477 9 135458233 [A/G] NM_020064 BARHL1 EXON Missense_A17T exm791478 9 135458234 [T/C] NM_020064 BARHL1 EXON Missense_A17V exm2259196 9 135462885 [T/C] NM_020064 BARHL1 EXON Synonymous_A212A exm791524 9 135470281 [T/C] NM_022779 DDX31 EXON Missense_R843Q exm791532 9 135470411 [T/C] NM_022779 DDX31 EXON Missense_A800T exm791534 9 135470414 [T/C] NM_022779 DDX31 EXON Missense_I799V exm791536 9 135470435 [A/C] NM_022779 DDX31 EXON Missense_S792A exm791540 9 135470473 [T/C] NM_022779 DDX31 EXON Missense_S779N exm791559 9 135493791 [T/C] NM_022779 DDX31 EXON Missense_R689Q exm791560 9 135493797 [T/C] NM_022779 DDX31 EXON Missense_R687Q exm791563 9 135493810 [A/G] NM_022779 DDX31 EXON Missense_P683S exm791567 9 135501056 [A/C] NM_022779 DDX31 EXON Missense_A675S exm791569 9 135501132 [A/G] NM_022779 DDX31 EXON Synonymous_N649N exm791570 9 135505663 [T/G] NM_022779 DDX31 EXON Missense_S645Y exm791572 9 135505754 [A/G] NM_022779 DDX31 EXON Missense_R615W exm791574 9 135505784 [T/C] NM_022779 DDX31 EXON Missense_A605T exm791581 9 135517395 [G/C] NM_022779,NM_138620 DDX31,DDX31 EXON Missense_C584S,Missense_C584S exm791582 9 135517405 [T/C] NM_022779,NM_138620 DDX31,DDX31 EXON Missense_V581I,Missense_V581I exm791589 9 135521416 [T/C] NM_022779,NM_138620 DDX31,DDX31 EXON Missense_E521K,Missense_E521K exm791591 9 135522216 [T/A] NM_022779,NM_138620 DDX31,DDX31 EXON Missense_K504N,Missense_K504N exm791594 9 135522250 [T/C] NM_022779,NM_138620 DDX31,DDX31 EXON Missense_R493K,Missense_R493K exm791595 9 135522272 [T/C] NM_022779,NM_138620 DDX31,DDX31 EXON Missense_T486A,Missense_T486A exm791596 9 135522283 [T/C] NM_022779,NM_138620 DDX31,DDX31 EXON Missense_K482R,Missense_K482R exm791598 9 135522311 [A/C] NM_022779,NM_138620 DDX31,DDX31 EXON Missense_D473Y,Missense_D473Y exm791602 9 135522424 [A/G] NM_022779,NM_138620 DDX31,DDX31 EXON Missense_I435T,Missense_I435T exm791606 9 135523668 [T/C] NM_022779,NM_138620 DDX31,DDX31 EXON Missense_G397D,Missense_G397D exm2187574 9 135523846 [T/C] NM_022779,NM_138620 DDX31,DDX31 EXON Missense_R383Q,Missense_R383Q exm791609 9 135523847 [A/G] NM_022779,NM_138620 DDX31,DDX31 EXON Missense_R383W,Missense_R383W exm791611 9 135523933 [T/C] NM_022779,NM_138620 DDX31,DDX31 EXON Missense_R354H,Missense_R354H exm791612 9 135523934 [A/G] NM_022779,NM_138620 DDX31,DDX31 EXON Missense_R354C,Missense_R354C exm791615 9 135527849 [T/C] NM_022779,NM_138620 DDX31,DDX31 EXON Missense_V312M,Missense_V312M exm791619 9 135535118 [A/C] NM_022779,NM_138620 DDX31,DDX31 EXON Missense_V273L,Missense_V273L exm791626 9 135537672 [A/C] NM_022779,NM_138620 DDX31,DDX31 EXON Missense_H233Q,Missense_H233Q exm791631 9 135537982 [A/T] NM_022779,NM_138620 DDX31,DDX31 EXON Missense_V164D,Missense_V164D exm791633 9 135538016 [T/C] NM_022779,NM_138620 DDX31,DDX31 EXON Missense_E153K,Missense_E153K exm791636 9 135538051 [A/G] NM_022779,NM_138620 DDX31,DDX31 EXON Missense_A141V,Missense_A141V exm791639 9 135545254 [A/G] NM_022779,NM_138620 DDX31,DDX31 EXON Missense_A128V,Missense_A128V exm791640 9 135545267 [T/G] NM_022779,NM_138620 DDX31,DDX31 EXON Missense_P124T,Missense_P124T exm791656 9 135545540 [T/C] NM_022779,NM_138620 DDX31,DDX31 EXON Missense_E33K,Missense_E33K exm791662 9 135545995 [A/G] NM_012204 GTF3C4 EXON Missense_A4T exm791674 9 135546313 [T/C] NM_012204 GTF3C4 EXON Missense_P110S exm791684 9 135553692 [T/C] NM_012204 GTF3C4 EXON Missense_P229L exm791686 9 135553706 [A/G] NM_012204 GTF3C4 EXON Missense_G234R exm791687 9 135553774 [C/G] NM_012204 GTF3C4 EXON Missense_I256M exm791690 9 135553941 [T/C] NM_012204 GTF3C4 EXON Missense_S312F exm791691 9 135553973 [T/C] NM_012204 GTF3C4 EXON Missense_H323Y exm791707 9 135554520 [A/G] NM_012204 GTF3C4 EXON Missense_N505S exm791715 9 135554701 [T/G] NM_012204 GTF3C4 EXON Missense_I565M exm791742 9 135601087 [C/G] NM_152572 AK8 EXON Missense_K476N exm791743 9 135601088 [T/C] NM_152572 AK8 EXON Missense_K476R exm791746 9 135601109 [T/C] NM_152572 AK8 EXON Missense_G469E exm-rs11243897 9 135618283 [A/G] NM_152572 AK8 Silent exm791765 9 135668043 [A/G] NM_152572 AK8 EXON Missense_R367C exm791774 9 135668127 [A/G] NM_152572 AK8 EXON Missense_R339C exm791776 9 135668160 [A/G] NM_152572 AK8 EXON Missense_P328S exm791781 9 135690061 [T/C] NM_152572 AK8 EXON Missense_E315K exm791789 9 135702298 [A/G] NM_152572 AK8 EXON Missense_P234S exm791790 9 135702318 [A/C] NM_152572 AK8 EXON Missense_V227G exm791791 9 135702319 [T/C] NM_152572 AK8 EXON Missense_V227I exm2274382 9 135702354 [A/G] NM_152572 AK8 EXON Missense_T215M exm2187633 9 135703415 [T/C] NM_152572 AK8 EXON Missense_D181N exm791800 9 135703450 [T/G] NM_152572 AK8 EXON Missense_T169K exm791804 9 135704037 [T/A] NM_152572 AK8 EXON Missense_H160L exm2187634 9 135704085 [A/G] NM_152572 AK8 EXON Missense_T144M exm791811 9 135730257 [T/C] NM_152572 AK8 EXON Missense_D130G exm791814 9 135730288 [A/G] NM_152572 AK8 EXON Nonsense_Q120X exm791818 9 135739089 [A/G] NM_152572 AK8 EXON Missense_T99M exm2247714 9 135753567 [A/C] NM_152572 AK8 EXON Missense_L26V exm791833 9 135753629 [A/G] NM_152572 AK8 EXON Missense_I5T exm791840 9 135759446 [A/G] NM_018956 C9orf9 EXON Missense_D38N exm791841 9 135759455 [T/C] NM_018956 C9orf9 EXON Missense_R41W exm791845 9 135762799 [A/G] NM_018956 C9orf9 EXON Missense_R63Q exm791850 9 135762846 [T/C] NM_018956 C9orf9 EXON Missense_L79F exm2247715 9 135762921 [A/G] NM_018956 C9orf9 EXON Missense_V104I exm791868 9 135763825 [A/G] NM_018956 C9orf9 Silent exm2259200 9 135771835 [T/C] NM_001162426,NM_001162427,NM_000368 TSC1,TSC1,TSC1 EXON Synonymous_E1093E,Synonymous_E1043E,Synonymous_E1094E exm791889 9 135772014 [T/C] NM_001162426,NM_001162427,NM_000368 TSC1,TSC1,TSC1 EXON Missense_G1034S,Missense_G984S,Missense_G1035S exm2187670 9 135772927 [C/G] NM_001162426,NM_001162427,NM_000368 TSC1,TSC1,TSC1 EXON Missense_T898S,Missense_T848S,Missense_T899S exm791904 9 135772970 [A/G] NM_001162426,NM_001162427,NM_000368 TSC1,TSC1,TSC1 EXON Missense_R884W,Missense_R834W,Missense_R885W exm-rs1076160 9 135776034 [T/C] NM_001162426,NM_001162427,NM_000368 TSC1,TSC1,TSC1 Silent,Silent,Silent exm791918 9 135778098 [T/C] NM_001162426,NM_001162427,NM_000368 TSC1,TSC1,TSC1 EXON Missense_N761S,Missense_N711S,Missense_N762S exm791920 9 135779052 [A/G] NM_001162426,NM_001162427,NM_000368 TSC1,TSC1,TSC1 EXON Missense_H731Y,Missense_H681Y,Missense_H732Y exm2187687 9 135781005 [G/C] NM_001162426,NM_001162427,NM_000368 TSC1,TSC1,TSC1 EXON Missense_Q653E,Missense_Q603E,Missense_Q654E exm791939 9 135781205 [T/C] NM_001162426,NM_001162427,NM_000368 TSC1,TSC1,TSC1 EXON Missense_K586R,Missense_K536R,Missense_K587R exm791949 9 135781439 [T/C] NM_001162426,NM_001162427,NM_000368 TSC1,TSC1,TSC1 EXON Missense_R508Q,Missense_R458Q,Missense_R509Q exm791953 9 135782214 [A/G] NM_001162426,NM_001162427,NM_000368 TSC1,TSC1,TSC1 EXON Missense_P447S,Missense_P397S,Missense_P448S exm791954 9 135782221 [T/C] NM_001162426,NM_001162427,NM_000368 TSC1,TSC1,TSC1 EXON Synonymous_E444E,Synonymous_E394E,Synonymous_E445E exm2187695 9 135785971 [A/G] NM_001162426,NM_001162427,NM_000368 TSC1,TSC1,TSC1 EXON Missense_T416I,Missense_T366I,Missense_T417I exm791965 9 135786013 [A/G] NM_001162426,NM_001162427,NM_000368 TSC1,TSC1,TSC1 EXON Missense_S402L,Missense_S352L,Missense_S403L exm791966 9 135786043 [A/G] NM_001162426,NM_001162427,NM_000368 TSC1,TSC1,TSC1 EXON Missense_T392I,Missense_T342I,Missense_T393I exm791971 9 135786451 [T/G] NM_001162426,NM_001162427,NM_000368 TSC1,TSC1,TSC1 EXON Missense_T360N,Missense_T309N,Missense_T360N exm791977 9 135786868 [A/G] NM_001162426,NM_001162427,NM_000368 TSC1,TSC1,TSC1 EXON Missense_S334L,Missense_S283L,Missense_S334L exm791978 9 135786904 [A/G] NM_001162426,NM_001162427,NM_000368 TSC1,TSC1,TSC1 EXON Missense_M322T,Missense_M271T,Missense_M322T exm2187699 9 135786954 [C/G] NM_001162426,NM_001162427,NM_000368 TSC1,TSC1,TSC1 EXON Synonymous_G305G,Synonymous_G254G,Synonymous_G305G exm791984 9 135787731 [T/C] NM_001162426,NM_001162427,NM_000368 TSC1,TSC1,TSC1 EXON Missense_R284H,Missense_R233H,Missense_R284H exm792000 9 135800991 [A/C] NM_001162426,NM_001162427,NM_000368 TSC1,TSC1,TSC1 EXON Missense_L116V,Silent,Missense_L116V exm792003 9 135801087 [T/C] NM_001162426,NM_001162427,NM_000368 TSC1,TSC1,TSC1 EXON Missense_A84T,Silent,Missense_A84T exm-rs2905072 9 135845035 [A/G] exm792021 9 135862165 [A/G] NM_001135031,NM_004188 GFI1B,GFI1B EXON Missense_V34M,Missense_V34M exm792024 9 135862716 [T/C] NM_001135031,NM_004188 GFI1B,GFI1B EXON Missense_F50L,Missense_F50L exm792030 9 135863587 [T/G] NM_001135031,NM_004188 GFI1B,GFI1B EXON Missense_G81V,Missense_G81V exm792035 9 135863638 [T/C] NM_001135031,NM_004188 GFI1B,GFI1B EXON Missense_S98L,Missense_S98L exm792047 9 135863808 [T/C] NM_001135031,NM_004188 GFI1B,GFI1B EXON Missense_R155C,Missense_R155C exm792056 9 135864485 [A/G] NM_001135031,NM_004188 GFI1B,GFI1B EXON Silent,Missense_R183Q exm792057 9 135864505 [T/C] NM_001135031,NM_004188 GFI1B,GFI1B EXON Silent,Missense_R190W exm792058 9 135864506 [A/G] NM_001135031,NM_004188 GFI1B,GFI1B EXON Silent,Missense_R190Q exm2187730 9 135864547 [A/G] NM_001135031,NM_004188 GFI1B,GFI1B EXON Silent,Missense_A204T exm792066 9 135864574 [A/G] NM_001135031,NM_004188 GFI1B,GFI1B EXON Silent,Missense_V213I exm2187746 9 135917586 [A/G] NM_001122823,NM_012087 GTF3C5,GTF3C5 EXON Missense_R89K,Missense_R89K exm792104 9 135919118 [T/C] NM_001122823,NM_012087 GTF3C5,GTF3C5 EXON Missense_M126T,Missense_M126T exm792109 9 135919199 [A/G] NM_001122823,NM_012087 GTF3C5,GTF3C5 EXON Missense_R153Q,Missense_R153Q exm792111 9 135919225 [A/C] NM_001122823,NM_012087 GTF3C5,GTF3C5 EXON Missense_Q162K,Missense_Q162K exm792126 9 135926241 [A/G] NM_001122823,NM_012087 GTF3C5,GTF3C5 EXON Missense_N215S,Missense_N215S exm792133 9 135929246 [A/G] NM_001122823,NM_012087 GTF3C5,GTF3C5 EXON Missense_R302Q,Missense_R302Q exm792145 9 135929851 [T/C] NM_001122823,NM_012087 GTF3C5,GTF3C5 EXON Missense_L349F,Missense_L349F exm792146 9 135929874 [A/G] NM_001122823,NM_012087 GTF3C5,GTF3C5 EXON Synonymous_T356T,Synonymous_T356T exm792151 9 135930174 [T/C] NM_001122823,NM_012087 GTF3C5,GTF3C5 EXON Missense_A382V,Missense_A382V exm2187768 9 135930184 [A/G] NM_001122823,NM_012087 GTF3C5,GTF3C5 EXON Synonymous_K385K,Synonymous_K385K exm792156 9 135930346 [A/C] NM_001122823,NM_012087 GTF3C5,GTF3C5 EXON Missense_L395M,Silent exm792176 9 135932235 [A/G] NM_001122823,NM_012087 GTF3C5,GTF3C5 EXON Missense_D452N,Missense_D445N exm792181 9 135933206 [T/C] NM_001122823,NM_012087 GTF3C5,GTF3C5 EXON Missense_F474L,Missense_F467L exm2187775 9 135933324 [T/G] NM_001122823,NM_012087 GTF3C5,GTF3C5 EXON Missense_G513V,Missense_G506V exm792204 9 135940433 [A/G] NM_001807 CEL EXON Missense_R119Q exm792205 9 135940439 [T/G] NM_001807 CEL EXON Missense_L121R exm792206 9 135940444 [A/G] NM_001807 CEL EXON Missense_V123I exm792214 9 135940552 [A/G] NM_001807 CEL EXON Missense_V159I exm2247720 9 135942280 [T/C] NM_001807 CEL EXON Missense_V245A exm792239 9 135942575 [T/C] NM_001807 CEL EXON Missense_P296L exm792335 9 135974054 [T/C] NM_001271774,NM_006266,NM_001042368,NM_001271775,NM_001271776 RALGDS,RALGDS,RALGDS,RALGDS,RALGDS EXON Missense_V860M,Missense_V889M,Missense_V834M,Missense_V888M,Missense_V877M exm792371 9 135977366 [T/G] NM_001271774,NM_006266,NM_001042368,NM_001271775,NM_001271776 RALGDS,RALGDS,RALGDS,RALGDS,RALGDS EXON Missense_I695L,Missense_I724L,Missense_I669L,Missense_I723L,Missense_I712L exm792373 9 135977399 [T/C] NM_001271774,NM_006266,NM_001042368,NM_001271775,NM_001271776 RALGDS,RALGDS,RALGDS,RALGDS,RALGDS EXON Missense_G684S,Missense_G713S,Missense_G658S,Missense_G712S,Missense_G701S exm792384 9 135977899 [A/G] NM_001271774,NM_006266,NM_001042368,NM_001271775,NM_001271776 RALGDS,RALGDS,RALGDS,RALGDS,RALGDS EXON Missense_T629I,Missense_T658I,Missense_T603I,Missense_T657I,Missense_T646I exm792387 9 135977942 [T/C] NM_001271774,NM_006266,NM_001042368,NM_001271775,NM_001271776 RALGDS,RALGDS,RALGDS,RALGDS,RALGDS EXON Missense_E615K,Missense_E644K,Missense_E589K,Missense_E643K,Missense_E632K exm792395 9 135978196 [T/C] NM_001271774,NM_006266,NM_001042368,NM_001271775,NM_001271776 RALGDS,RALGDS,RALGDS,RALGDS,RALGDS EXON Missense_R599Q,Missense_R628Q,Missense_R573Q,Missense_R627Q,Missense_R616Q exm792412 9 135979651 [A/G] NM_001271774,NM_006266,NM_001042368,NM_001271775,NM_001271776 RALGDS,RALGDS,RALGDS,RALGDS,RALGDS EXON Missense_T528M,Missense_T557M,Missense_T502M,Missense_T556M,Missense_T545M exm792414 9 135979686 [A/C] NM_001271774,NM_006266,NM_001042368,NM_001271775,NM_001271776 RALGDS,RALGDS,RALGDS,RALGDS,RALGDS EXON Missense_M516I,Missense_M545I,Missense_M490I,Missense_M544I,Missense_M533I exm792454 9 135983544 [C/G] NM_001271774,NM_006266,NM_001042368,NM_001271775,NM_001271776 RALGDS,RALGDS,RALGDS,RALGDS,RALGDS EXON Missense_P314R,Missense_P343R,Missense_P288R,Missense_P342R,Missense_P331R exm792462 9 135983580 [A/G] NM_001271774,NM_006266,NM_001042368,NM_001271775,NM_001271776 RALGDS,RALGDS,RALGDS,RALGDS,RALGDS EXON Missense_P302L,Missense_P331L,Missense_P276L,Missense_P330L,Missense_P319L exm2277378 9 135983592 [G/C] NM_001271774,NM_006266,NM_001042368,NM_001271775,NM_001271776 RALGDS,RALGDS,RALGDS,RALGDS,RALGDS EXON Missense_S298W,Missense_S327W,Missense_S272W,Missense_S326W,Missense_S315W exm792478 9 135984173 [T/C] NM_001271774,NM_006266,NM_001042368,NM_001271775,NM_001271776 RALGDS,RALGDS,RALGDS,RALGDS,RALGDS EXON Missense_K193R,Missense_K222R,Missense_K167R,Missense_K221R,Missense_K210R exm792487 9 135985104 [T/C] NM_001271774,NM_006266,NM_001042368,NM_001271775,NM_001271776 RALGDS,RALGDS,RALGDS,RALGDS,RALGDS EXON Silent,Missense_G165S,Missense_G110S,Missense_G164S,Silent exm792495 9 135985773 [T/C] NM_001271774,NM_006266,NM_001042368,NM_001271775,NM_001271776 RALGDS,RALGDS,RALGDS,RALGDS,RALGDS EXON Missense_Q116R,Missense_Q133R,Missense_Q78R,Missense_Q132R,Missense_Q133R exm792532 9 136029007 [T/C] NM_021996 GBGT1 EXON Missense_R334H exm792533 9 136029025 [C/G] NM_021996 GBGT1 EXON Missense_P328R exm792551 9 136029265 [A/G] NM_021996 GBGT1 EXON Missense_T248I exm792552 9 136029280 [T/C] NM_021996 GBGT1 EXON Missense_R243H exm792554 9 136029286 [T/C] NM_021996 GBGT1 EXON Missense_Y241C exm792555 9 136029293 [A/G] NM_021996 GBGT1 EXON Missense_F239L exm792556 9 136029295 [T/G] NM_021996 GBGT1 EXON Missense_Q238P exm792557 9 136029301 [T/C] NM_021996 GBGT1 EXON Missense_R236H exm792559 9 136029311 [T/C] NM_021996 GBGT1 EXON Missense_A233T exm792563 9 136029410 [T/C] NM_021996 GBGT1 EXON Missense_D200N exm792564 9 136029416 [C/G] NM_021996 GBGT1 EXON Missense_E198Q exm792572 9 136029512 [T/C] NM_021996 GBGT1 EXON Missense_S166G exm792573 9 136029520 [T/C] NM_021996 GBGT1 EXON Missense_R163Q exm792575 9 136029535 [A/G] NM_021996 GBGT1 EXON Missense_P158L exm792578 9 136029611 [T/C] NM_021996 GBGT1 EXON Missense_E133K exm792580 9 136029645 [T/G] NM_021996 GBGT1 EXON Nonsense_Y121X exm792586 9 136030583 [A/G] NM_021996 GBGT1 EXON Missense_T114M exm792587 9 136030592 [A/G] NM_021996 GBGT1 EXON Missense_I111T exm792593 9 136030656 [T/C] NM_021996 GBGT1 EXON Missense_V90I exm792596 9 136030688 [A/G] NM_021996 GBGT1 EXON Missense_L79P exm792603 9 136031315 [T/C] NM_021996 GBGT1 EXON Missense_Y66C exm792611 9 136031412 [A/G] NM_021996 GBGT1 EXON Missense_P60S exm792622 9 136037739 [T/C] NM_021996 GBGT1 EXON Missense_S21G exm792623 9 136037742 [A/G] NM_021996 GBGT1 EXON Missense_L20F exm792627 9 136037793 [T/G] NM_021996 GBGT1 EXON Missense_R3S exm2266879 9 136047393 [A/G] exm792643 9 136081747 [A/G] NM_014581 OBP2B EXON Missense_R149C exm792648 9 136081783 [A/G] NM_014581 OBP2B EXON Missense_R137W exm792674 9 136131069 [A/G] NM_020469 ABO EXON Missense_R350W exm792679 9 136131119 [A/G] NM_020469 ABO EXON Missense_P333L exm792685 9 136131188 [T/C] NM_020469 ABO EXON Missense_C310Y exm-rs8176746 9 136131322 [T/G] NM_020469 ABO EXON Synonymous_T265T exm792694 9 136131347 [A/G] NM_020469 ABO EXON Missense_P257L exm792695 9 136131350 [T/G] NM_020469 ABO EXON Missense_S256Y exm792696 9 136131389 [A/G] NM_020469 ABO EXON Missense_P243L exm792698 9 136131407 [A/G] NM_020469 ABO EXON Missense_T237M exm792700 9 136131429 [T/C] NM_020469 ABO EXON Missense_A230T exm792701 9 136131437 [T/C] NM_020469 ABO EXON Missense_R227H exm792703 9 136131461 [A/G] NM_020469 ABO EXON Missense_T219M exm792706 9 136131472 [A/T] NM_020469 ABO EXON Missense_S215R exm792710 9 136131539 [A/G] NM_020469 ABO EXON Missense_V193A exm792711 9 136131576 [T/C] NM_020469 ABO EXON Missense_G181S exm792713 9 136131591 [T/C] NM_020469 ABO EXON Missense_A176T exm792714 9 136131592 [G/C] NM_020469 ABO EXON Missense_C175W exm792718 9 136131629 [T/C] NM_020469 ABO EXON Missense_R163H exm792719 9 136131630 [A/G] NM_020469 ABO EXON Missense_R163C exm792720 9 136131635 [A/G] NM_020469 ABO EXON Missense_A161V exm792721 9 136131636 [T/C] NM_020469 ABO EXON Missense_A161T exm792722 9 136131651 [A/G] NM_020469 ABO EXON Missense_R156W exm792726 9 136131740 [A/G] NM_020469 ABO EXON Missense_T126M exm792730 9 136132852 [A/G] NM_020469 ABO EXON Missense_T106M exm792732 9 136132873 [T/C] NM_020469 ABO EXON Missense_H99R exm792735 9 136133506 [A/G] NM_020469 ABO EXON Missense_S74P exm792743 9 136135236 [T/C] NM_020469 ABO EXON Missense_V64I exm792745 9 136135238 [T/C] NM_020469 ABO EXON Missense_H63R exm792747 9 136136770 [A/C] NM_020469 ABO EXON Missense_F36V exm792748 9 136136773 [T/C] NM_020469 ABO EXON Missense_G35R exm-rs687621 9 136137065 [A/G] NM_020469 ABO Silent exm792750 9 136137547 [A/C] NM_020469 ABO EXON Missense_R18L exm792751 9 136137554 [T/C] NM_020469 ABO EXON Missense_A16T exm-rs657152 9 136139265 [A/C] NM_020469 ABO Silent exm-rs514659 9 136142203 [A/C] NM_020469 ABO Silent exm-rs505922 9 136149229 [T/C] NM_020469 ABO Silent exm-rs507666 9 136149399 [A/G] NM_020469 ABO Silent exm-rs651007 9 136153875 [T/C] exm-rs579459 9 136154168 [T/C] exm-rs635634 9 136155000 [T/C] exm2187957 9 136198734 [C/G] NM_006753 SURF6 EXON Missense_Q353E exm792764 9 136198803 [A/G] NM_006753 SURF6 EXON Missense_R330C exm792773 9 136198932 [G/C] NM_006753 SURF6 EXON Missense_R287G exm792774 9 136198939 [G/C] NM_006753 SURF6 EXON Missense_D284E exm792776 9 136198955 [T/C] NM_006753 SURF6 EXON Missense_G279D exm2247727 9 136199086 [T/G] NM_006753 SURF6 EXON Missense_N235K exm792794 9 136199389 [T/G] NM_006753 SURF6 EXON Missense_N201H exm792799 9 136199412 [T/C] NM_006753 SURF6 EXON Missense_R193Q exm792802 9 136199421 [A/G] NM_006753 SURF6 EXON Missense_T190M exm792803 9 136199434 [T/C] NM_006753 SURF6 EXON Missense_E186K exm792804 9 136199466 [A/G] NM_006753 SURF6 EXON Missense_T175M exm792805 9 136199503 [A/G] NM_006753 SURF6 EXON Missense_R163W exm792806 9 136199514 [T/C] NM_006753 SURF6 EXON Missense_R159Q exm792810 9 136199553 [T/C] NM_006753 SURF6 EXON Missense_R146Q exm792812 9 136199569 [T/C] NM_006753 SURF6 EXON Missense_A141T exm792818 9 136200594 [T/C] NM_006753 SURF6 EXON Missense_R118Q exm792825 9 136201267 [T/C] NM_006753 SURF6 EXON Missense_E89K exm792826 9 136201289 [A/C] NM_006753 SURF6 EXON Missense_R81S exm792830 9 136201345 [T/C] NM_006753 SURF6 EXON Missense_A63T exm792845 9 136208452 [C/G] NM_181491,NM_133640 MED22,MED22 EXON Silent,Missense_P169R exm792849 9 136208483 [T/C] NM_181491,NM_133640 MED22,MED22 EXON Silent,Missense_D159N exm792850 9 136208498 [T/C] NM_181491,NM_133640 MED22,MED22 EXON Silent,Missense_G154R exm792851 9 136208509 [T/C] NM_181491,NM_133640 MED22,MED22 EXON Silent,Missense_C150Y exm792856 9 136211014 [A/G] NM_181491,NM_133640 MED22,MED22 EXON Missense_L127F,Missense_L127F exm2187987 9 136211030 [A/G] NM_181491,NM_133640 MED22,MED22 EXON Synonymous_D121D,Synonymous_D121D exm2259202 9 136211108 [A/G] NM_181491,NM_133640 MED22,MED22 EXON Synonymous_N95N,Synonymous_N95N exm792934 9 136217563 [A/G] NM_000972 RPL7A EXON Missense_A203T exm792935 9 136217582 [T/C] NM_000972 RPL7A EXON Missense_S209L exm792955 9 136218788 [A/G] NM_003172 SURF1 EXON Missense_R295C exm792978 9 136219448 [C/G] NM_003172 SURF1 EXON Missense_D202H exm2188046 9 136219574 [T/C] NM_003172 SURF1 EXON Missense_N188S exm792994 9 136220769 [T/G] NM_003172 SURF1 EXON Missense_Y117S exm793009 9 136221708 [C/G] NM_003172 SURF1 EXON Missense_V71L exm793012 9 136221752 [G/C] NM_003172 SURF1 EXON Missense_A56G exm793013 9 136221811 [T/C] NM_003172 SURF1 EXON Synonymous_G36G exm793020 9 136223541 [T/C] NM_017503 SURF2 EXON Missense_R25C exm793030 9 136224646 [T/C] NM_017503 SURF2 EXON Missense_L98P exm793038 9 136226904 [A/T] NM_017503 SURF2 EXON Missense_M139K exm793041 9 136226928 [A/G] NM_017503 SURF2 EXON Missense_R147Q exm793045 9 136227005 [T/C] NM_017503 SURF2 EXON Missense_P173S exm793050 9 136227176 [T/G] NM_017503 SURF2 EXON Nonsense_E185X exm793052 9 136227213 [A/G] NM_017503 SURF2 EXON Missense_K197R exm793053 9 136227236 [T/C] NM_017503 SURF2 EXON Missense_P205S exm793055 9 136227260 [A/G] NM_017503 SURF2 EXON Missense_S213G exm793057 9 136227285 [A/G] NM_017503 SURF2 EXON Missense_R221Q exm793064 9 136227951 [A/C] NM_017503 SURF2 EXON Missense_K236T exm793065 9 136227974 [T/C] NM_017503 SURF2 EXON Missense_R244C exm793070 9 136228007 [T/C] NM_017503 SURF2 EXON Missense_P255S exm2247735 9 136233501 [A/C] NM_033161 SURF4 EXON Missense_G96W exm2188088 9 136233510 [A/C] NM_033161 SURF4 EXON Missense_A93S exm793111 9 136234224 [A/C] NM_033161 SURF4 EXON Missense_S49I exm793126 9 136243432 [A/G] NM_153710 C9orf96 Silent exm793131 9 136245917 [A/G] NM_153710 C9orf96 EXON Missense_Q33R exm793145 9 136253292 [T/C] NM_153710 C9orf96 EXON Missense_I119T exm793164 9 136259419 [T/C] NM_153710 C9orf96 EXON Synonymous_D195D exm2188117 9 136260877 [T/C] NM_153710 C9orf96 EXON Nonsense_R285X exm793181 9 136260878 [A/G] NM_153710 C9orf96 EXON Missense_R285Q exm793190 9 136262363 [T/G] NM_153710 C9orf96 EXON Missense_Q313H exm2188119 9 136262385 [A/G] NM_153710 C9orf96 EXON Missense_D321N exm2188130 9 136265658 [A/G] NM_153710 C9orf96 Silent exm793206 9 136266962 [A/C] NM_153710 C9orf96 EXON Missense_L432I exm793207 9 136266965 [G/C] NM_153710 C9orf96 EXON Missense_L433V exm793208 9 136266968 [C/G] NM_153710 C9orf96 EXON Missense_V434L exm793209 9 136266982 [A/C] NM_153710 C9orf96 EXON Missense_S438R exm793212 9 136268037 [A/G] NM_153710 C9orf96 EXON Missense_N457S exm793226 9 136268860 [T/C] NM_153710 C9orf96 EXON Missense_P504L exm793240 9 136268934 [T/C] NM_153710 C9orf96 EXON Missense_W529R exm793241 9 136268952 [T/G] NM_153710 C9orf96 EXON Missense_G535C exm793243 9 136269052 [T/A] NM_153710 C9orf96 EXON Nonsense_K538X exm793247 9 136269143 [A/G] NM_153710 C9orf96 EXON Missense_R568Q exm793261 9 136270388 [T/C] NM_153710 C9orf96 EXON Missense_P629L exm793262 9 136270402 [A/G] NM_153710 C9orf96 EXON Missense_S634G exm793264 9 136270517 [T/G] NM_153710 C9orf96 EXON Missense_G672V exm793270 9 136272077 [G/C] NM_020385 REXO4 EXON Missense_X423Y exm793275 9 136272163 [T/C] NM_020385 REXO4 EXON Missense_V395I exm793279 9 136273902 [T/C] NM_020385 REXO4 EXON Missense_S355N exm793282 9 136273933 [A/G] NM_020385 REXO4 EXON Missense_R345W exm793283 9 136273941 [T/C] NM_020385 REXO4 EXON Missense_K342R exm793292 9 136277439 [T/C] NM_020385 REXO4 EXON Missense_R297Q exm793296 9 136277482 [T/C] NM_020385 REXO4 EXON Missense_T283A exm793299 9 136277542 [T/C] NM_020385 REXO4 EXON Missense_A263T exm793304 9 136277899 [T/C] NM_020385 REXO4 EXON Missense_G239S exm793312 9 136278019 [T/C] NM_020385 REXO4 EXON Missense_V199M exm793316 9 136278030 [T/C] NM_020385 REXO4 EXON Nonsense_W195X exm793319 9 136279835 [A/G] NM_020385,NR_024514 REXO4,ADAMTS13 EXON Synonymous_I174I,Silent exm2188171 9 136279855 [T/C] NM_020385,NR_024514 REXO4,ADAMTS13 EXON Missense_V168I,Silent exm2271237 9 136279935 [T/C] NM_020385,NR_024514 REXO4,ADAMTS13 EXON Missense_R141K,Silent exm793327 9 136280025 [A/G] NM_020385,NR_024514 REXO4,ADAMTS13 EXON Missense_S111L,Silent exm793344 9 136287582 [T/C] NR_024514,NM_139026,NM_139027,NM_139025 ADAMTS13,ADAMTS13,ADAMTS13,ADAMTS13 EXON Silent,Missense_R7W,Missense_R7W,Missense_R7W exm793346 9 136287621 [A/G] NR_024514,NM_139026,NM_139027,NM_139025 ADAMTS13,ADAMTS13,ADAMTS13,ADAMTS13 EXON Silent,Missense_A20T,Missense_A20T,Missense_A20T exm793349 9 136288251 [A/G] NR_024514,NM_139026,NM_139027,NM_139025 ADAMTS13,ADAMTS13,ADAMTS13,ADAMTS13 EXON Silent,Missense_V46M,Missense_V46M,Missense_V46M exm793353 9 136289443 [T/C] NR_024514,NM_139026,NM_139027,NM_139025 ADAMTS13,ADAMTS13,ADAMTS13,ADAMTS13 EXON Silent,Missense_R59C,Missense_R59C,Missense_R59C exm793359 9 136289598 [T/C] NR_024514,NM_139026,NM_139027,NM_139025 ADAMTS13,ADAMTS13,ADAMTS13,ADAMTS13 EXON Silent,Synonymous_I110I,Synonymous_I110I,Synonymous_I110I exm793368 9 136291070 [A/G] NR_024514,NM_139026,NM_139027,NM_139025 ADAMTS13,ADAMTS13,ADAMTS13,ADAMTS13 EXON Silent,Missense_I143V,Missense_I143V,Missense_I143V exm793371 9 136291143 [T/C] NR_024514,NM_139026,NM_139027,NM_139025 ADAMTS13,ADAMTS13,ADAMTS13,ADAMTS13 EXON Silent,Missense_T167M,Missense_T167M,Missense_T167M exm793375 9 136291338 [G/C] NR_024514,NM_139026,NM_139027,NM_139025 ADAMTS13,ADAMTS13,ADAMTS13,ADAMTS13 EXON Silent,Missense_D187H,Missense_D187H,Missense_D187H exm2259203 9 136291361 [T/C] NR_024514,NM_139026,NM_139027,NM_139025 ADAMTS13,ADAMTS13,ADAMTS13,ADAMTS13 EXON Silent,Synonymous_G194G,Synonymous_G194G,Synonymous_G194G exm793377 9 136291361 [T/C] NR_024514,NM_139026,NM_139027,NM_139025 ADAMTS13,ADAMTS13,ADAMTS13,ADAMTS13 EXON Silent,Synonymous_G194G,Synonymous_G194G,Synonymous_G194G exm2266945 9 136291594 [A/G] NR_024514,NM_139026,NM_139027,NM_139025 ADAMTS13,ADAMTS13,ADAMTS13,ADAMTS13 Silent,Silent,Silent,Silent exm793400 9 136297743 [T/C] NR_024514,NM_139026,NM_139027,NM_139025 ADAMTS13,ADAMTS13,ADAMTS13,ADAMTS13 EXON Silent,Missense_P310L,Missense_P341L,Missense_P341L exm793408 9 136298562 [A/G] NR_024514,NM_139026,NM_139027,NM_139025 ADAMTS13,ADAMTS13,ADAMTS13,ADAMTS13 EXON Silent,Missense_R355H,Missense_R386H,Missense_R386H exm793409 9 136298583 [A/G] NR_024514,NM_139026,NM_139027,NM_139025 ADAMTS13,ADAMTS13,ADAMTS13,ADAMTS13 EXON Silent,Missense_R362Q,Missense_R393Q,Missense_R393Q exm793418 9 136298777 [T/C] NR_024514,NM_139026,NM_139027,NM_139025 ADAMTS13,ADAMTS13,ADAMTS13,ADAMTS13 EXON Silent,Missense_R390C,Missense_R421C,Missense_R421C exm793423 9 136301982 [G/C] NR_024514,NM_139026,NM_139027,NM_139025 ADAMTS13,ADAMTS13,ADAMTS13,ADAMTS13 EXON Silent,Missense_Q417E,Missense_Q448E,Missense_Q448E exm793425 9 136302008 [T/G] NR_024514,NM_139026,NM_139027,NM_139025 ADAMTS13,ADAMTS13,ADAMTS13,ADAMTS13 EXON Silent,Missense_Q425H,Missense_Q456H,Missense_Q456H exm793431 9 136302932 [A/C] NR_024514,NM_139026,NM_139027,NM_139025 ADAMTS13,ADAMTS13,ADAMTS13,ADAMTS13 EXON Silent,Missense_D469A,Missense_D500A,Missense_D500A exm793446 9 136303472 [A/C] NR_024514,NM_139026,NM_139027,NM_139025 ADAMTS13,ADAMTS13,ADAMTS13,ADAMTS13 EXON Silent,Missense_A533D,Missense_A564D,Missense_A564D exm793454 9 136305482 [T/C] NR_024514,NM_139026,NM_139027,NM_139025 ADAMTS13,ADAMTS13,ADAMTS13,ADAMTS13 EXON Silent,Missense_R571C,Missense_R602C,Missense_R602C exm793463 9 136305530 [C/G] NR_024514,NM_139026,NM_139027,NM_139025 ADAMTS13,ADAMTS13,ADAMTS13,ADAMTS13 EXON Silent,Missense_P587A,Missense_P618A,Missense_P618A exm793466 9 136305552 [A/G] NR_024514,NM_139026,NM_139027,NM_139025 ADAMTS13,ADAMTS13,ADAMTS13,ADAMTS13 EXON Silent,Missense_R594H,Missense_R625H,Missense_R625H exm793473 9 136307527 [A/G] NR_024514,NM_139026,NM_139027,NM_139025 ADAMTS13,ADAMTS13,ADAMTS13,ADAMTS13 EXON Silent,Missense_R628K,Missense_R659K,Missense_R659K exm793475 9 136307560 [A/G] NR_024514,NM_139026,NM_139027,NM_139025 ADAMTS13,ADAMTS13,ADAMTS13,ADAMTS13 EXON Silent,Missense_R639H,Missense_R670H,Missense_R670H exm2188233 9 136307797 [A/C] NR_024514,NM_139026,NM_139027,NM_139025 ADAMTS13,ADAMTS13,ADAMTS13,ADAMTS13 EXON Silent,Missense_Q692K,Missense_Q723K,Missense_Q723K exm793483 9 136307825 [T/C] NR_024514,NM_139026,NM_139027,NM_139025 ADAMTS13,ADAMTS13,ADAMTS13,ADAMTS13 EXON Silent,Missense_A701V,Missense_A732V,Missense_A732V exm793486 9 136307848 [A/G] NR_024514,NM_139026,NM_139027,NM_139025 ADAMTS13,ADAMTS13,ADAMTS13,ADAMTS13 EXON Silent,Missense_E709K,Missense_E740K,Missense_E740K exm793488 9 136308516 [A/G] NR_024514,NM_139026,NM_139027,NM_139025 ADAMTS13,ADAMTS13,ADAMTS13,ADAMTS13 EXON Silent,Missense_G721S,Missense_G752S,Missense_G752S exm793495 9 136310057 [A/G] NR_024514,NM_139026,NM_139027,NM_139025 ADAMTS13,ADAMTS13,ADAMTS13,ADAMTS13 EXON Silent,Missense_V801M,Missense_V832M,Missense_V832M exm793498 9 136310108 [A/G] NR_024514,NM_139026,NM_139027,NM_139025 ADAMTS13,ADAMTS13,ADAMTS13,ADAMTS13 EXON Silent,Missense_V818I,Missense_V849I,Missense_V849I exm793505 9 136310895 [A/G] NR_024514,NM_139026,NM_139027,NM_139025 ADAMTS13,ADAMTS13,ADAMTS13,ADAMTS13 EXON Silent,Missense_V865M,Missense_V896M,Missense_V896M exm793506 9 136310908 [T/C] NR_024514,NM_139026,NM_139027,NM_139025 ADAMTS13,ADAMTS13,ADAMTS13,ADAMTS13 EXON Silent,Missense_A869V,Missense_A900V,Missense_A900V exm793508 9 136310917 [T/C] NR_024514,NM_139026,NM_139027,NM_139025 ADAMTS13,ADAMTS13,ADAMTS13,ADAMTS13 EXON Silent,Missense_S872L,Missense_S903L,Missense_S903L exm793517 9 136313815 [T/C] NR_024514,NM_139026,NM_139027,NM_139025 ADAMTS13,ADAMTS13,ADAMTS13,ADAMTS13 EXON Silent,Missense_R912W,Missense_R943W,Missense_R943W exm793520 9 136313842 [T/C] NR_024514,NM_139026,NM_139027,NM_139025 ADAMTS13,ADAMTS13,ADAMTS13,ADAMTS13 EXON Silent,Missense_P921S,Missense_P952S,Missense_P952S exm793524 9 136314957 [A/G] NR_024514,NM_139026,NM_139027,NM_139025 ADAMTS13,ADAMTS13,ADAMTS13,ADAMTS13 EXON Silent,Missense_R941Q,Missense_R972Q,Missense_R972Q exm793525 9 136314978 [A/G] NR_024514,NM_139026,NM_139027,NM_139025 ADAMTS13,ADAMTS13,ADAMTS13,ADAMTS13 EXON Silent,Missense_R948Q,Missense_R979Q,Missense_R979Q exm793526 9 136314986 [A/G] NR_024514,NM_139026,NM_139027,NM_139025 ADAMTS13,ADAMTS13,ADAMTS13,ADAMTS13 EXON Silent,Missense_G951R,Missense_G982R,Missense_G982R exm793536 9 136319562 [T/G] NR_024514,NM_139026,NM_139027,NM_139025 ADAMTS13,ADAMTS13,ADAMTS13,ADAMTS13 EXON Silent,Missense_C993G,Missense_C1024G,Missense_C1024G exm793538 9 136319589 [A/G] NR_024514,NM_139026,NM_139027,NM_139025 ADAMTS13,ADAMTS13,ADAMTS13,ADAMTS13 EXON Silent,Missense_A1002T,Missense_A1033T,Missense_A1033T exm793548 9 136319670 [T/C] NR_024514,NM_139026,NM_139027,NM_139025 ADAMTS13,ADAMTS13,ADAMTS13,ADAMTS13 EXON Silent,Missense_R1029W,Missense_R1060W,Missense_R1060W exm793552 9 136320444 [A/G] NR_024514,NM_139026,NM_139027,NM_139025 ADAMTS13,ADAMTS13,ADAMTS13,ADAMTS13 EXON Silent,Missense_R1065H,Missense_R1096H,Missense_R1096H exm793560 9 136320602 [T/C] NR_024514,NM_139026,NM_139027,NM_139025 ADAMTS13,ADAMTS13,ADAMTS13,ADAMTS13 EXON Silent,Silent,Silent,Missense_R1149W exm2188254 9 136320698 [A/G] NR_024514,NM_139026,NM_139027,NM_139025 ADAMTS13,ADAMTS13,ADAMTS13,ADAMTS13 EXON Silent,Silent,Silent,Missense_G1181R exm793573 9 136321299 [T/C] NR_024514,NM_139026,NM_139027,NM_139025 ADAMTS13,ADAMTS13,ADAMTS13,ADAMTS13 EXON Silent,Missense_T1139I,Missense_T1170I,Missense_T1226I exm793582 9 136321775 [A/G] NR_024514,NM_139026,NM_139027,NM_139025 ADAMTS13,ADAMTS13,ADAMTS13,ADAMTS13 EXON Silent,Missense_G1189R,Missense_G1220R,Missense_G1276R exm793588 9 136323080 [T/C] NR_024514,NM_139026,NM_139027,NM_139025 ADAMTS13,ADAMTS13,ADAMTS13,ADAMTS13 EXON Silent,Missense_S1227L,Missense_S1258L,Missense_S1314L exm-rs4962153 9 136323754 [A/G] NR_024514,NM_139026,NM_139027,NM_139025 ADAMTS13,ADAMTS13,ADAMTS13,ADAMTS13 Silent,Silent,Silent,Silent exm793608 9 136325282 [A/C] NM_017586,NM_001242369,NM_001135775,NM_001242370 CACFD1,CACFD1,CACFD1,CACFD1 EXON Missense_R32S,Missense_R32S,Missense_R32S,Missense_R32S exm2276083 9 136328659 [A/C] NM_017586,NM_001242369,NM_001135775,NM_001242370 CACFD1,CACFD1,CACFD1,CACFD1 EXON Missense_A59E,Missense_A59E,Missense_A59E,Missense_A59E exm793623 9 136330532 [T/C] NM_017586,NM_001242369,NM_001135775,NM_001242370 CACFD1,CACFD1,CACFD1,CACFD1 EXON Missense_R95W,Missense_R95W,Silent,Silent exm793633 9 136333128 [A/G] NM_017586,NM_001242369,NM_001135775,NM_001242370 CACFD1,CACFD1,CACFD1,CACFD1 EXON Missense_G136R,Missense_G136R,Missense_G94R,Missense_G94R exm793636 9 136333487 [A/G] NM_017586,NM_001242369,NM_001135775,NM_001242370 CACFD1,CACFD1,CACFD1,CACFD1 EXON Silent,Missense_A152T,Silent,Missense_A110T exm793652 9 136337168 [A/G] NM_017585,NM_001145099 SLC2A6,SLC2A6 EXON Missense_T500M,Missense_T438M exm2247741 9 136338647 [T/C] NM_017585,NM_001145099 SLC2A6,SLC2A6 EXON Missense_S371N,Silent exm793674 9 136339108 [T/C] NM_017585,NM_001145099 SLC2A6,SLC2A6 EXON Missense_V344I,Missense_V344I exm793679 9 136339186 [T/C] NM_017585,NM_001145099 SLC2A6,SLC2A6 EXON Missense_V318I,Missense_V318I exm2259204 9 136340200 [T/G] NM_017585,NM_001145099 SLC2A6,SLC2A6 EXON Synonymous_P270P,Synonymous_P270P exm793693 9 136340551 [C/G] NM_017585,NM_001145099 SLC2A6,SLC2A6 EXON Missense_E249Q,Missense_E249Q exm793694 9 136340569 [T/C] NM_017585,NM_001145099 SLC2A6,SLC2A6 EXON Missense_D243N,Missense_D243N exm793695 9 136340572 [A/C] NM_017585,NM_001145099 SLC2A6,SLC2A6 EXON Missense_V242F,Missense_V242F exm793702 9 136340625 [T/C] NM_017585,NM_001145099 SLC2A6,SLC2A6 EXON Missense_R224Q,Missense_R224Q exm793707 9 136341407 [T/C] NM_017585,NM_001145099 SLC2A6,SLC2A6 EXON Missense_T172A,Missense_T172A exm793719 9 136343408 [A/G] NM_017585,NM_001145099 SLC2A6,SLC2A6 EXON Missense_H75Y,Missense_H75Y exm793726 9 136343524 [T/C] NM_017585,NM_001145099 SLC2A6,SLC2A6 EXON Missense_K36R,Missense_K36R exm793734 9 136379838 [A/G] NM_001080483 TMEM8C EXON Missense_P196S exm793753 9 136384124 [T/G] NM_001080483 TMEM8C EXON Missense_P91T exm793764 9 136385356 [T/C] NM_001080483 TMEM8C EXON Missense_D64N exm793772 9 136389959 [A/G] NM_001080483 TMEM8C EXON Missense_T3M exm793776 9 136401892 [A/G] NM_001145320,NM_014694 ADAMTSL2,ADAMTSL2 EXON Missense_V20I,Missense_V20I exm793782 9 136401922 [A/G] NM_001145320,NM_014694 ADAMTSL2,ADAMTSL2 EXON Missense_T30A,Missense_T30A exm793791 9 136403479 [T/C] NM_001145320,NM_014694 ADAMTSL2,ADAMTSL2 EXON Missense_S81F,Missense_S81F exm793826 9 136405804 [A/G] NM_001145320,NM_014694 ADAMTSL2,ADAMTSL2 EXON Missense_R166H,Missense_R166H exm793882 9 136434598 [A/G] NM_001145320,NM_014694 ADAMTSL2,ADAMTSL2 EXON Synonymous_V771V,Synonymous_V771V exm2259206 9 136434598 [A/G] NM_001145320,NM_014694 ADAMTSL2,ADAMTSL2 EXON Synonymous_V771V,Synonymous_V771V exm-rs3025343 9 136478355 [A/G] exm793906 9 136501569 [A/G] NM_000787 DBH EXON Missense_V26M exm793909 9 136501599 [A/G] NM_000787 DBH EXON Missense_A36T exm793912 9 136501728 [T/C] NM_000787 DBH EXON Missense_R79W exm793914 9 136501746 [A/G] NM_000787 DBH EXON Missense_V85I exm793915 9 136501756 [C/G] NM_000787 DBH EXON Missense_G88A exm793917 9 136501768 [A/G] NM_000787 DBH EXON Missense_R92H exm793926 9 136501834 [T/C] NM_000787 DBH Silent exm793933 9 136505114 [A/G] NM_000787 DBH EXON Synonymous_E162E exm793938 9 136507332 [A/G] NM_000787 DBH EXON Missense_G164S exm793940 9 136507375 [A/G] NM_000787 DBH EXON Missense_R178Q exm793944 9 136507425 [A/G] NM_000787 DBH EXON Missense_V195M exm793945 9 136507444 [A/G] NM_000787 DBH EXON Missense_N201S exm793948 9 136507456 [T/C] NM_000787 DBH EXON Missense_P205L exm793951 9 136507473 [A/G] NM_000787 DBH EXON Missense_A211T exm793952 9 136507474 [T/C] NM_000787 DBH EXON Missense_A211V exm793955 9 136507528 [T/C] NM_000787 DBH EXON Missense_T229M exm793956 9 136507559 [C/G] NM_000787 DBH EXON Missense_K239N exm793961 9 136507586 [C/G] NM_000787 DBH EXON Missense_K248N exm2247751 9 136508640 [A/G] NM_000787 DBH EXON Missense_D284N exm793972 9 136508658 [A/G] NM_000787 DBH EXON Missense_D290N exm793974 9 136508682 [A/G] NM_000787 DBH EXON Missense_V298M exm793975 9 136508691 [A/G] NM_000787 DBH EXON Missense_A301T exm793979 9 136509370 [T/G] NM_000787 DBH EXON Missense_A318S exm793995 9 136513028 [T/C] NM_000787 DBH EXON Missense_A362V exm794029 9 136521654 [A/G] NM_000787 DBH EXON Missense_G482R exm794035 9 136521726 [A/G] NM_000787 DBH EXON Missense_A506T exm794036 9 136521738 [A/G] NM_000787 DBH EXON Missense_G510S exm794038 9 136521751 [A/G] NM_000787 DBH EXON Missense_K514R exm794048 9 136522317 [T/C] NM_000787 DBH EXON Missense_M563T exm794053 9 136523487 [A/T] NM_000787 DBH EXON Missense_E591V exm794057 9 136523534 [T/C] NM_000787 DBH EXON Missense_P607S exm794061 9 136523555 [A/G] NM_000787 DBH EXON Missense_G614R exm794071 9 136531857 [T/C] NM_007101,NM_001134707 SARDH,SARDH EXON Synonymous_P877P,Synonymous_P877P exm794087 9 136535746 [T/C] NM_007101,NM_001134707 SARDH,SARDH EXON Missense_A819T,Missense_A819T exm794094 9 136535856 [A/G] NM_007101,NM_001134707 SARDH,SARDH EXON Missense_A782V,Missense_A782V exm794098 9 136536678 [T/C] NM_007101,NM_001134707 SARDH,SARDH EXON Missense_D769N,Missense_D769N exm794106 9 136536792 [T/C] NM_007101,NM_001134707 SARDH,SARDH EXON Missense_G731R,Missense_G731R exm794108 9 136536816 [A/G] NM_007101,NM_001134707 SARDH,SARDH EXON Nonsense_R723X,Nonsense_R723X exm-rs129933 9 136538149 [A/G] NM_007101,NM_001134707 SARDH,SARDH Silent,Silent exm794110 9 136550326 [T/C] NM_007101,NM_001134707 SARDH,SARDH EXON Missense_A718T,Missense_A718T exm794116 9 136555539 [T/C] NM_007101,NM_001134707 SARDH,SARDH EXON Missense_E678K,Missense_E678K exm794120 9 136555629 [T/C] NM_007101,NM_001134707 SARDH,SARDH EXON Missense_M648V,Missense_M648V exm794127 9 136559460 [T/C] NM_007101,NM_001134707 SARDH,SARDH EXON Missense_R614H,Missense_R614H exm794128 9 136559461 [A/G] NM_007101,NM_001134707 SARDH,SARDH EXON Missense_R614C,Missense_R614C exm794133 9 136561353 [T/C] NM_007101,NM_001134707 SARDH,SARDH EXON Missense_R600Q,Missense_R600Q exm794135 9 136561413 [T/C] NM_007101,NM_001134707 SARDH,SARDH EXON Missense_Y580C,Missense_Y580C exm794140 9 136568070 [A/C] NM_007101,NM_001134707 SARDH,SARDH EXON Missense_Y546D,Missense_Y546D exm794145 9 136570084 [A/G] NM_007101,NM_001134707 SARDH,SARDH EXON Nonsense_R514X,Nonsense_R514X exm794150 9 136573411 [T/C] NM_007101,NM_001134707 SARDH,SARDH EXON Missense_E490K,Missense_E490K exm794154 9 136573437 [T/C] NM_007101,NM_001134707 SARDH,SARDH EXON Missense_R481H,Missense_R481H exm794156 9 136573510 [A/G] NM_007101,NM_001134707 SARDH,SARDH EXON Nonsense_R457X,Nonsense_R457X exm794159 9 136573536 [A/G] NM_007101,NM_001134707 SARDH,SARDH EXON Missense_S448L,Missense_S448L exm794165 9 136577774 [T/C] NM_007101,NM_001134707 SARDH,SARDH EXON Missense_R432H,Missense_R432H exm2188467 9 136577775 [A/G] NM_007101,NM_001134707 SARDH,SARDH EXON Missense_R432C,Missense_R432C exm794170 9 136578196 [A/G] NM_007101,NM_001134707 SARDH,SARDH EXON Nonsense_R401X,Nonsense_R401X exm794174 9 136582460 [T/C] NM_007101,NM_001134707 SARDH,SARDH EXON Missense_V380I,Missense_V380I exm794175 9 136582462 [A/G] NM_007101,NM_001134707 SARDH,SARDH EXON Missense_T379M,Missense_T379M exm794176 9 136582482 [A/C] NM_007101,NM_001134707 SARDH,SARDH EXON Missense_E372D,Missense_E372D exm794179 9 136582516 [A/G] NM_007101,NM_001134707 SARDH,SARDH EXON Missense_I361T,Missense_I361T exm794188 9 136584082 [A/G] NM_007101,NM_001134707 SARDH,SARDH EXON Missense_A333V,Missense_A333V exm794201 9 136594905 [G/C] NM_007101,NM_001134707 SARDH,SARDH EXON Missense_E299D,Missense_E299D exm794203 9 136594913 [T/C] NM_007101,NM_001134707 SARDH,SARDH EXON Missense_V297I,Missense_V297I exm794205 9 136594942 [A/G] NM_007101,NM_001134707 SARDH,SARDH EXON Missense_P287L,Missense_P287L exm794207 9 136594963 [T/C] NM_007101,NM_001134707 SARDH,SARDH EXON Missense_R280Q,Missense_R280Q exm794212 9 136595221 [T/C] NM_007101,NM_001134707 SARDH,SARDH EXON Missense_G260D,Missense_G260D exm794213 9 136595242 [A/G] NM_007101,NM_001134707 SARDH,SARDH EXON Missense_A253V,Missense_A253V exm2259207 9 136596451 [T/C] NM_007101,NM_001134707 SARDH,SARDH EXON Synonymous_R222R,Synonymous_R222R exm2259208 9 136596517 [A/G] NM_007101,NM_001134707 SARDH,SARDH EXON Synonymous_Y200Y,Synonymous_Y200Y exm794222 9 136596522 [A/G] NM_007101,NM_001134707 SARDH,SARDH EXON Missense_L199F,Missense_L199F exm794224 9 136596551 [A/G] NM_007101,NM_001134707 SARDH,SARDH EXON Missense_T189I,Missense_T189I exm794228 9 136597550 [T/C] NM_007101,NM_001134707 SARDH,SARDH EXON Missense_M169V,Missense_M169V exm794230 9 136597582 [T/C] NM_007101,NM_001134707 SARDH,SARDH EXON Missense_N158S,Missense_N158S exm794234 9 136597663 [T/C] NM_007101,NM_001134707 SARDH,SARDH EXON Missense_R131Q,Missense_R131Q exm794246 9 136599026 [G/C] NM_007101,NM_001134707 SARDH,SARDH EXON Missense_M90I,Missense_M90I exm794255 9 136599138 [A/G] NM_007101,NM_001134707 SARDH,SARDH EXON Missense_S53L,Missense_S53L exm794274 9 136633569 [T/C] NM_003371,NM_001134398 VAV2,VAV2 EXON Missense_G823R,Missense_G862R exm794285 9 136633640 [T/C] NM_003371,NM_001134398 VAV2,VAV2 EXON Missense_R799Q,Missense_R838Q exm794291 9 136633698 [T/C] NM_003371,NM_001134398 VAV2,VAV2 EXON Missense_G780S,Missense_G819S exm794292 9 136633699 [G/C] NM_003371,NM_001134398 VAV2,VAV2 EXON Missense_I779M,Missense_I818M exm794294 9 136633707 [A/G] NM_003371,NM_001134398 VAV2,VAV2 EXON Missense_R777C,Missense_R816C exm2276084 9 136634554 [T/C] NM_003371,NM_001134398 VAV2,VAV2 EXON Silent,Missense_A807T exm794303 9 136635515 [A/G] NM_003371,NM_001134398 VAV2,VAV2 EXON Missense_S768P,Missense_S778P exm794311 9 136637089 [T/C] NM_003371,NM_001134398 VAV2,VAV2 EXON Missense_S729G,Missense_S739G exm794327 9 136641169 [T/C] NM_003371,NM_001134398 VAV2,VAV2 EXON Missense_D657N,Missense_D667N exm2188520 9 136641170 [A/G] NM_003371,NM_001134398 VAV2,VAV2 EXON Synonymous_I656I,Synonymous_I666I exm794328 9 136641177 [T/C] NM_003371,NM_001134398 VAV2,VAV2 EXON Missense_R654Q,Missense_R664Q exm794330 9 136641186 [A/G] NM_003371,NM_001134398 VAV2,VAV2 EXON Missense_P651L,Missense_P661L exm794332 9 136641201 [A/G] NM_003371,NM_001134398 VAV2,VAV2 EXON Missense_P646L,Missense_P656L exm794345 9 136643994 [T/C] NM_003371,NM_001134398 VAV2,VAV2 EXON Missense_M584V,Missense_M594V exm794371 9 136650917 [C/G] NM_003371,NM_001134398 VAV2,VAV2 EXON Missense_E495Q,Missense_E505Q exm794378 9 136653483 [A/G] NM_003371,NM_001134398 VAV2,VAV2 EXON Missense_V462A,Missense_V467A exm794389 9 136654461 [A/C] NM_003371,NM_001134398 VAV2,VAV2 EXON Missense_V393G,Missense_V398G exm794408 9 136662893 [T/C] NM_003371,NM_001134398 VAV2,VAV2 EXON Missense_H287R,Missense_H292R exm2188572 9 136671302 [T/C] NM_003371,NM_001134398 VAV2,VAV2 EXON Missense_D241G,Missense_D246G exm2274384 9 136672414 [A/G] NM_003371,NM_001134398 VAV2,VAV2 EXON Missense_P229L,Missense_P234L exm794433 9 136677304 [T/C] NM_003371,NM_001134398 VAV2,VAV2 EXON Missense_V162I,Missense_V162I exm794434 9 136677338 [A/G] NM_003371,NM_001134398 VAV2,VAV2 EXON Synonymous_D150D,Synonymous_D150D exm2262606 9 136769888 [A/G] NM_003371,NM_001134398 VAV2,VAV2 Silent,Silent exm-rs3780792 9 136835343 [A/G] NM_003371,NM_001134398 VAV2,VAV2 Silent,Silent exm2188609 9 136898797 [A/G] NM_007371 BRD3 EXON Missense_P699L exm2259211 9 136898820 [T/G] NM_007371 BRD3 EXON Synonymous_P691P exm2259212 9 136899902 [T/C] NM_007371 BRD3 EXON Synonymous_Q662Q exm794474 9 136899924 [T/C] NM_007371 BRD3 EXON Missense_K655R exm2247758 9 136905284 [C/G] NM_007371 BRD3 EXON Missense_E505D exm794500 9 136906986 [T/G] NM_007371 BRD3 EXON Missense_K435Q exm794544 9 136913527 [A/G] NM_007371 BRD3 EXON Missense_A255V exm794571 9 136915695 [A/G] NM_007371 BRD3 EXON Missense_A172V exm794593 9 136918394 [T/G] NM_007371 BRD3 EXON Missense_N69T exm2266881 9 136996067 [A/G] exm2259214 9 137005023 [T/C] NM_017588,NM_052821 WDR5,WDR5 EXON Synonymous_P8P,Synonymous_P8P exm794637 9 137005023 [T/C] NM_017588,NM_052821 WDR5,WDR5 EXON Synonymous_P8P,Synonymous_P8P exm2259215 9 137019649 [T/C] NM_017588,NM_052821 WDR5,WDR5 EXON Synonymous_A231A,Synonymous_A231A exm794700 9 137293514 [T/C] NM_002957 RXRA EXON Missense_P22L exm794730 9 137309059 [A/G] NM_002957 RXRA EXON Synonymous_S222S exm2259216 9 137309059 [A/G] NM_002957 RXRA EXON Synonymous_S222S exm794735 9 137309155 [A/G] NM_002957 RXRA EXON Missense_M254I exm794751 9 137320995 [A/G] NM_002957 RXRA EXON Missense_I318V exm794758 9 137323759 [T/C] NM_002957 RXRA EXON Missense_T351M exm2271157 9 137436967 [T/C] exm-rs7044529 9 137568051 [T/C] NM_000093 COL5A1 Silent exm794787 9 137582841 [T/C] NM_000093 COL5A1 EXON Missense_R65W exm794788 9 137582842 [A/G] NM_000093 COL5A1 EXON Missense_R65Q exm794795 9 137591755 [T/C] NM_000093 COL5A1 EXON Missense_A93V exm794796 9 137591756 [A/G] NM_000093 COL5A1 EXON Synonymous_A93A exm794797 9 137591818 [A/C] NM_000093 COL5A1 EXON Missense_A114D exm794802 9 137591855 [T/G] NM_000093 COL5A1 EXON Missense_Q126H exm794803 9 137591886 [A/G] NM_000093 COL5A1 EXON Missense_V137I exm794813 9 137593099 [A/G] NM_000093 COL5A1 EXON Missense_D192N exm794814 9 137593122 [C/G] NM_000093 COL5A1 EXON Missense_I199M exm794815 9 137593123 [A/G] NM_000093 COL5A1 EXON Missense_D200N exm2259217 9 137619195 [T/C] NM_000093 COL5A1 EXON Synonymous_T246T exm794850 9 137620532 [T/G] NM_000093 COL5A1 EXON Missense_G268V exm794864 9 137622101 [T/C] NM_000093 COL5A1 EXON Missense_T315M exm794880 9 137622320 [A/G] NM_000093 COL5A1 EXON Missense_N388S exm794913 9 137630361 [A/G] NM_000093 COL5A1 EXON Synonymous_A477A exm794931 9 137642654 [A/G] NM_000093 COL5A1 EXON Missense_G530S exm794934 9 137642705 [A/C] NM_000093 COL5A1 EXON Missense_Q547K exm794951 9 137648614 [T/C] NM_000093 COL5A1 EXON Missense_R611W exm794982 9 137658307 [T/C] NM_000093 COL5A1 EXON Missense_T699M exm794990 9 137660304 [T/C] NM_000093 COL5A1 EXON Missense_P761S exm795022 9 137676905 [A/G] NM_000093 COL5A1 EXON Missense_N852S exm795024 9 137676914 [C/G] NM_000093 COL5A1 EXON Missense_P855R exm795025 9 137676938 [T/A] NM_000093 COL5A1 EXON Missense_E863V exm795030 9 137681031 [A/G] NM_000093 COL5A1 EXON Missense_A893T exm795032 9 137681049 [A/G] NM_000093 COL5A1 EXON Missense_G899S exm795056 9 137688701 [A/G] NM_000093 COL5A1 EXON Missense_N951S exm795066 9 137693830 [A/C] NM_000093 COL5A1 EXON Missense_P995T exm795069 9 137694750 [T/C] NM_000093 COL5A1 EXON Missense_T1008M exm795116 9 137703404 [T/C] NM_000093 COL5A1 EXON Missense_P1217S exm-rs7874142 9 137704782 [A/G] NM_000093 COL5A1 Silent exm795126 9 137705832 [A/G] NM_000093 COL5A1 EXON Missense_E1286K exm795141 9 137707473 [A/G] NM_000093 COL5A1 EXON Missense_A1356T exm795145 9 137707833 [T/C] NM_000093 COL5A1 EXON Missense_T1374M exm795146 9 137707834 [A/G] NM_000093 COL5A1 EXON Synonymous_T1374T exm795148 9 137708884 [T/C] NM_000093 COL5A1 EXON Missense_P1379S exm795159 9 137710523 [T/C] NM_000093 COL5A1 EXON Missense_P1418S exm795182 9 137714878 [T/C] NM_000093 COL5A1 EXON Missense_S1548L exm795202 9 137716542 [G/C] NM_000093 COL5A1 EXON Missense_E1599Q exm795203 9 137716561 [T/C] NM_000093 COL5A1 EXON Missense_A1605V exm795208 9 137716653 [A/G] NM_000093 COL5A1 EXON Missense_A1636T exm2259219 9 137717651 [T/C] NM_000093 COL5A1 EXON Synonymous_V1656V exm2262607 9 137724371 [T/C] NM_000093 COL5A1 Silent exm795243 9 137726950 [T/C] NM_000093 COL5A1 EXON Missense_T1757M exm2188948 9 137726973 [T/C] NM_000093 COL5A1 EXON Missense_R1765C exm795250 9 137727030 [A/G] NM_000093 COL5A1 EXON Missense_A1784T exm795253 9 137734039 [A/G] NM_000093 COL5A1 EXON Missense_D1803N exm795265 9 137772678 [T/A] NM_015837,NM_004108 FCN2,FCN2 EXON Missense_D4V,Missense_D4V exm795266 9 137772679 [A/C] NM_015837,NM_004108 FCN2,FCN2 EXON Missense_D4E,Missense_D4E exm795271 9 137772768 [A/G] NM_015837,NM_004108 FCN2,FCN2 Silent,Silent exm795274 9 137774429 [T/C] NM_015837,NM_004108 FCN2,FCN2 EXON Silent,Missense_P53L exm795297 9 137777090 [T/C] NM_015837,NM_004108 FCN2,FCN2 EXON Missense_R65C,Missense_R103C exm795302 9 137777120 [T/C] NM_015837,NM_004108 FCN2,FCN2 EXON Missense_H75Y,Missense_H113Y exm795303 9 137777132 [A/G] NM_015837,NM_004108 FCN2,FCN2 EXON Missense_G79S,Missense_G117S exm795317 9 137777666 [T/C] NM_015837,NM_004108 FCN2,FCN2 EXON Missense_T123M,Missense_T161M exm795332 9 137778291 [A/G] NM_015837,NM_004108 FCN2,FCN2 EXON Missense_R154H,Missense_R192H exm795338 9 137778370 [A/G] NM_015837,NM_004108 FCN2,FCN2 EXON Synonymous_K180K,Synonymous_K218K exm795343 9 137779026 [T/C] NM_015837,NM_004108 FCN2,FCN2 EXON Missense_T198M,Missense_T236M exm795352 9 137779088 [T/C] NM_015837,NM_004108 FCN2,FCN2 EXON Missense_C219R,Missense_C257R exm795353 9 137779091 [T/G] NM_015837,NM_004108 FCN2,FCN2 EXON Missense_A220S,Missense_A258S exm795356 9 137779151 [T/C] NM_015837,NM_004108 FCN2,FCN2 EXON Missense_R240C,Missense_R278C exm795357 9 137779152 [A/G] NM_015837,NM_004108 FCN2,FCN2 EXON Missense_R240H,Missense_R278H exm795363 9 137779250 [T/C] NM_015837,NM_004108 FCN2,FCN2 EXON Nonsense_R273X,Nonsense_R311X exm795364 9 137779251 [A/G] NM_015837,NM_004108 FCN2,FCN2 EXON Missense_R273Q,Missense_R311Q exm795377 9 137801759 [T/C] NM_002003 FCN1 EXON Missense_N289S exm795382 9 137801789 [T/C] NM_002003 FCN1 EXON Nonsense_W279X exm795387 9 137801823 [A/G] NM_002003 FCN1 EXON Missense_S268P exm2188992 9 137802978 [T/C] NM_002003 FCN1 Silent exm795391 9 137802991 [T/C] NM_002003 FCN1 EXON Missense_G241R exm795396 9 137803042 [T/C] NM_002003 FCN1 EXON Missense_K224E exm795400 9 137803110 [T/C] NM_002003 FCN1 EXON Missense_S201N exm795437 9 137806242 [T/C] NM_002003 FCN1 EXON Missense_R99H exm795440 9 137806260 [T/C] NM_002003 FCN1 EXON Missense_R93Q exm795441 9 137806265 [T/C] NM_002003 FCN1 EXON Synonymous_G91G exm795463 9 137809629 [A/G] NM_002003 FCN1 EXON Missense_A30V exm795467 9 137809678 [C/G] NM_002003 FCN1 EXON Missense_V14L exm2259220 9 137809685 [A/C] NM_002003 FCN1 EXON Synonymous_G11G exm795470 9 137967581 [T/A] NM_014279,NM_006334 OLFM1,OLFM1 EXON Missense_D10V,Missense_D10V exm795515 9 138011453 [A/C] NM_014279 OLFM1 EXON Missense_H278P exm795521 9 138011550 [C/G] NM_014279 OLFM1 EXON Missense_E310D exm795544 9 138012008 [A/G] NM_014279 OLFM1 EXON Missense_R463H exm2259221 9 138015713 [A/G] exm-rs11103712 9 138037372 [A/G] exm-rs10858396 9 138275776 [A/G] exm2271231 9 138302726 [T/G] exm795556 9 138376372 [A/G] NM_014811 PPP1R26 EXON Missense_A6T exm795559 9 138376390 [T/C] NM_014811 PPP1R26 EXON Missense_L12F exm795570 9 138376493 [A/G] NM_014811 PPP1R26 EXON Missense_R46Q exm795584 9 138376616 [T/C] NM_014811 PPP1R26 EXON Missense_P87L exm795615 9 138377134 [A/G] NM_014811 PPP1R26 EXON Missense_A260T exm795619 9 138377203 [A/G] NM_014811 PPP1R26 EXON Missense_V283I exm795622 9 138377224 [T/C] NM_014811 PPP1R26 EXON Missense_R290C exm795623 9 138377225 [A/G] NM_014811 PPP1R26 EXON Missense_R290H exm795634 9 138377350 [G/C] NM_014811 PPP1R26 EXON Missense_Q332E exm795637 9 138377393 [A/G] NM_014811 PPP1R26 EXON Missense_R346K exm2259222 9 138377451 [T/C] NM_014811 PPP1R26 EXON Synonymous_D365D exm795653 9 138377657 [T/C] NM_014811 PPP1R26 EXON Missense_M434T exm795654 9 138377663 [G/C] NM_014811 PPP1R26 EXON Missense_P436R exm795660 9 138377738 [T/C] NM_014811 PPP1R26 EXON Missense_P461L exm795669 9 138377900 [T/C] NM_014811 PPP1R26 EXON Missense_P515L exm795672 9 138377923 [A/G] NM_014811 PPP1R26 EXON Missense_G523S exm795676 9 138378035 [A/C] NM_014811 PPP1R26 EXON Missense_Q560P exm795681 9 138378085 [A/G] NM_014811 PPP1R26 EXON Missense_G577S exm795683 9 138378125 [T/C] NM_014811 PPP1R26 EXON Missense_L590P exm795714 9 138378685 [A/G] NM_014811 PPP1R26 EXON Missense_A777T exm795726 9 138378820 [A/G] NM_014811 PPP1R26 EXON Missense_G822S exm795743 9 138379121 [A/C] NM_014811 PPP1R26 EXON Missense_Q922P exm2189086 9 138379186 [A/G] NM_014811 PPP1R26 EXON Missense_G944S exm795755 9 138379331 [T/G] NM_014811 PPP1R26 EXON Missense_G992V exm795768 9 138379522 [A/G] NM_014811 PPP1R26 EXON Missense_G1056R exm795784 9 138379894 [A/G] NM_014811 PPP1R26 EXON Missense_D1180N exm795788 9 138379949 [T/C] NM_014811 PPP1R26 EXON Missense_T1198M exm795804 9 138387415 [A/G] NM_144654,NM_001048265 C9orf116,C9orf116 EXON Missense_R75W,Missense_A90V exm795807 9 138387442 [A/G] NM_144654,NM_001048265 C9orf116,C9orf116 EXON Silent,Missense_S81L exm795814 9 138390468 [T/G] NM_144654,NM_001048265 C9orf116,C9orf116 EXON Missense_A62D,Missense_A62D exm795842 9 138392871 [A/G] NR_051967,NR_051968,NM_016034,NR_051969,NR_051970 MRPS2,MRPS2,MRPS2,MRPS2,MRPS2 EXON Silent,Silent,Missense_G24D,Silent,Silent exm795849 9 138392955 [T/C] NR_051967,NR_051968,NM_016034,NR_051969,NR_051970 MRPS2,MRPS2,MRPS2,MRPS2,MRPS2 EXON Silent,Silent,Missense_S52L,Silent,Silent exm795853 9 138393756 [T/A] NR_051967,NR_051968,NM_016034,NR_051969,NR_051970 MRPS2,MRPS2,MRPS2,MRPS2,MRPS2 EXON Silent,Silent,Missense_F79Y,Silent,Silent exm795861 9 138395423 [A/G] NR_051967,NR_051968,NM_016034,NR_051969,NR_051970 MRPS2,MRPS2,MRPS2,MRPS2,MRPS2 EXON Silent,Silent,Missense_D112G,Silent,Silent exm795870 9 138395560 [A/G] NR_051967,NR_051968,NM_016034,NR_051969,NR_051970 MRPS2,MRPS2,MRPS2,MRPS2,MRPS2 EXON Silent,Silent,Missense_M158V,Silent,Silent exm2189119 9 138395567 [A/G] NR_051967,NR_051968,NM_016034,NR_051969,NR_051970 MRPS2,MRPS2,MRPS2,MRPS2,MRPS2 EXON Silent,Silent,Missense_R160H,Silent,Silent exm795872 9 138395624 [T/C] NR_051967,NR_051968,NM_016034,NR_051969,NR_051970 MRPS2,MRPS2,MRPS2,MRPS2,MRPS2 EXON Silent,Silent,Missense_A179V,Silent,Silent exm795873 9 138395651 [A/G] NR_051967,NR_051968,NM_016034,NR_051969,NR_051970 MRPS2,MRPS2,MRPS2,MRPS2,MRPS2 EXON Silent,Silent,Missense_R188H,Silent,Silent exm795879 9 138395707 [T/G] NR_051967,NR_051968,NM_016034,NR_051969,NR_051970 MRPS2,MRPS2,MRPS2,MRPS2,MRPS2 EXON Silent,Silent,Missense_V207L,Silent,Silent exm795888 9 138395866 [A/G] NR_051967,NR_051968,NM_016034,NR_051969,NR_051970 MRPS2,MRPS2,MRPS2,MRPS2,MRPS2 EXON Silent,Silent,Missense_A260T,Silent,Silent exm795895 9 138395936 [A/G] NR_051967,NR_051968,NM_016034,NR_051969,NR_051970 MRPS2,MRPS2,MRPS2,MRPS2,MRPS2 EXON Silent,Silent,Missense_G283E,Silent,Silent exm795897 9 138395969 [A/G] NR_051967,NR_051968,NM_016034,NR_051969,NR_051970 MRPS2,MRPS2,MRPS2,MRPS2,MRPS2 EXON Silent,Silent,Missense_H294R,Silent,Silent exm795926 9 138415148 [A/G] NM_001252618,NM_001252619,NM_002297,NM_001252617 LCN1,LCN1,LCN1,LCN1 EXON Missense_D98N,Missense_D98N,Missense_D98N,Missense_D98N exm795927 9 138415149 [A/G] NM_001252618,NM_001252619,NM_002297,NM_001252617 LCN1,LCN1,LCN1,LCN1 Silent,Silent,Silent,Silent exm795934 9 138415731 [G/C] NM_001252618,NM_001252619,NM_002297,NM_001252617 LCN1,LCN1,LCN1,LCN1 EXON Missense_G100R,Missense_G100R,Missense_G100R,Missense_G100R exm795936 9 138415740 [T/G] NM_001252618,NM_001252619,NM_002297,NM_001252617 LCN1,LCN1,LCN1,LCN1 EXON Missense_V103L,Missense_V103L,Missense_V103L,Missense_V103L exm2259223 9 138415814 [A/G] NM_001252618,NM_001252619,NM_002297,NM_001252617 LCN1,LCN1,LCN1,LCN1 EXON Synonymous_P127P,Synonymous_P127P,Synonymous_P127P,Synonymous_P127P exm795945 9 138415818 [T/C] NM_001252618,NM_001252619,NM_002297,NM_001252617 LCN1,LCN1,LCN1,LCN1 EXON Nonsense_R129X,Nonsense_R129X,Nonsense_R129X,Nonsense_R129X exm795977 9 138439723 [A/G] NM_014582 OBP2A EXON Missense_G95D exm2189172 9 138439764 [A/G] NM_014582 OBP2A EXON Missense_D109N exm795984 9 138439792 [A/G] NM_014582 OBP2A EXON Missense_R118H exm795986 9 138439806 [T/C] NM_014582 OBP2A EXON Missense_R123C exm795988 9 138439809 [T/C] NM_014582 OBP2A EXON Missense_Y124H exm795994 9 138440554 [G/C] NM_014582 OBP2A EXON Missense_G130A exm795995 9 138440562 [T/C] NM_014582 OBP2A EXON Missense_P133S exm796005 9 138440654 [A/G] NM_014582 OBP2A EXON Synonymous_T163T exm796043 9 138457309 [A/G] NM_002571,NM_001018049 PAEP,PAEP EXON Missense_R159G,Missense_R159G exm796050 9 138457640 [A/G] NM_002571,NM_001018049 PAEP,PAEP EXON Missense_R179H,Missense_R179H exm796061 9 138516047 [T/C] NM_182974 GLT6D1 EXON Missense_I243V exm796063 9 138516082 [A/G] NM_182974 GLT6D1 EXON Missense_M231T exm796064 9 138516088 [T/C] NM_182974 GLT6D1 EXON Missense_N229S exm796065 9 138516109 [T/A] NM_182974 GLT6D1 EXON Missense_Q222L exm796067 9 138516119 [A/G] NM_182974 GLT6D1 EXON Missense_P219S exm796068 9 138516128 [T/C] NM_182974 GLT6D1 EXON Missense_A216T exm796071 9 138516188 [T/C] NM_182974 GLT6D1 EXON Missense_A196T exm796073 9 138516190 [T/C] NM_182974 GLT6D1 EXON Missense_H195R exm796077 9 138516289 [A/G] NM_182974 GLT6D1 EXON Missense_I162T exm796080 9 138516322 [A/G] NM_182974 GLT6D1 EXON Missense_V151A exm-IND9-137656167 9 138516347 [I/D] NM_182974 GLT6D1 EXON exm796085 9 138516385 [C/G] NM_182974 GLT6D1 EXON Missense_R130P exm796089 9 138516420 [T/G] NM_182974 GLT6D1 EXON Missense_F118L exm796091 9 138516425 [T/C] NM_182974 GLT6D1 EXON Missense_A117T exm796093 9 138516452 [A/G] NM_182974 GLT6D1 EXON Nonsense_R108X exm796094 9 138516494 [T/G] NM_182974 GLT6D1 EXON Missense_P94T exm796106 9 138518023 [T/G] NM_182974 GLT6D1 EXON Missense_D50A exm796107 9 138518048 [A/G] NM_182974 GLT6D1 EXON Missense_R42C exm-rs1537415 9 138529722 [C/G] NM_182974 GLT6D1 Silent exm796119 9 138555222 [A/G] NM_001001676 LCN9 EXON Missense_D19N exm796121 9 138555237 [A/G] NM_001001676 LCN9 EXON Missense_M24V exm796127 9 138556104 [T/C] NM_001001676 LCN9 EXON Missense_H65Y exm796133 9 138556603 [T/G] NM_001001676 LCN9 EXON Missense_C90F exm796136 9 138557114 [A/G] NM_001001676 LCN9 EXON Missense_V111I exm796149 9 138557583 [A/G] NM_001001676 LCN9 EXON Missense_D154N exm796153 9 138557755 [A/G] NM_001001676 LCN9 EXON Silent exm796160 9 138585525 [A/G] NM_001012415,NM_001101677 SOHLH1,SOHLH1 EXON Silent,Missense_P361L exm796164 9 138586196 [A/G] NM_001012415,NM_001101677 SOHLH1,SOHLH1 EXON Missense_A328V,Silent exm796170 9 138586263 [T/G] NM_001012415,NM_001101677 SOHLH1,SOHLH1 EXON Missense_L306M,Missense_L306M exm796183 9 138586999 [T/C] NM_001012415,NM_001101677 SOHLH1,SOHLH1 EXON Missense_G258R,Missense_G258R exm796188 9 138587059 [T/C] NM_001012415,NM_001101677 SOHLH1,SOHLH1 EXON Missense_V238M,Missense_V238M exm796192 9 138587103 [G/C] NM_001012415,NM_001101677 SOHLH1,SOHLH1 EXON Missense_S223C,Missense_S223C exm796197 9 138588557 [T/C] NM_001012415,NM_001101677 SOHLH1,SOHLH1 EXON Missense_R188G,Missense_R188G exm796204 9 138588590 [T/G] NM_001012415,NM_001101677 SOHLH1,SOHLH1 EXON Missense_P177T,Missense_P177T exm796205 9 138588598 [A/G] NM_001012415,NM_001101677 SOHLH1,SOHLH1 EXON Missense_S174L,Missense_S174L exm796211 9 138589353 [G/C] NM_001012415,NM_001101677 SOHLH1,SOHLH1 EXON Missense_R156G,Missense_R156G exm796213 9 138589415 [A/G] NM_001012415,NM_001101677 SOHLH1,SOHLH1 EXON Missense_T135M,Missense_T135M exm796215 9 138589442 [A/G] NM_001012415,NM_001101677 SOHLH1,SOHLH1 EXON Missense_S126L,Missense_S126L exm796217 9 138589450 [T/C] NM_001012415,NM_001101677 SOHLH1,SOHLH1 EXON Missense_M123I,Missense_M123I exm796220 9 138589474 [T/C] NM_001012415,NM_001101677 SOHLH1,SOHLH1 Silent,Silent exm796248 9 138591286 [A/G] NM_001012415,NM_001101677 SOHLH1,SOHLH1 EXON Missense_P10S,Missense_P10S exm796260 9 138594163 [G/C] NM_001272003,NM_020822 KCNT1,KCNT1 EXON Missense_G20A,Missense_G20A exm796278 9 138642022 [A/G] NM_001272003,NM_020822 KCNT1,KCNT1 EXON Synonymous_S63S,Synonymous_S111S exm796286 9 138645815 [A/G] NM_001272003,NM_020822 KCNT1,KCNT1 EXON Missense_N108S,Missense_N156S exm796291 9 138646997 [A/G] NM_001272003,NM_020822 KCNT1,KCNT1 EXON Missense_M126I,Missense_M174I exm796292 9 138647008 [T/C] NM_001272003,NM_020822 KCNT1,KCNT1 EXON Missense_A130V,Missense_A178V exm796299 9 138649038 [A/G] NM_001272003,NM_020822 KCNT1,KCNT1 EXON Missense_V165I,Missense_V213I exm2259226 9 138651612 [T/C] NM_001272003,NM_020822 KCNT1,KCNT1 EXON Synonymous_T269T,Synonymous_T314T exm796364 9 138662152 [A/G] NM_001272003,NM_020822 KCNT1,KCNT1 EXON Missense_Q498R,Missense_Q543R exm796369 9 138662250 [A/G] NM_001272003,NM_020822 KCNT1,KCNT1 EXON Missense_E531K,Missense_E576K exm2271158 9 138662465 [T/G] NM_001272003,NM_020822 KCNT1,KCNT1 Silent,Silent exm796385 9 138662812 [A/G] NM_001272003,NM_020822 KCNT1,KCNT1 EXON Missense_I582V,Missense_I627V exm796388 9 138662861 [A/G] NM_001272003,NM_020822 KCNT1,KCNT1 EXON Missense_R598Q,Missense_R643Q exm796406 9 138664762 [T/C] NM_001272003,NM_020822 KCNT1,KCNT1 EXON Missense_T692M,Missense_T737M exm796411 9 138664772 [C/G] NM_001272003,NM_020822 KCNT1,KCNT1 EXON Missense_D695E,Missense_D740E exm796413 9 138664787 [T/C] NM_001272003,NM_020822 KCNT1,KCNT1 EXON Synonymous_S700S,Synonymous_S745S exm2259227 9 138664787 [T/C] NM_001272003,NM_020822 KCNT1,KCNT1 EXON Synonymous_S700S,Synonymous_S745S exm796429 9 138670290 [A/G] NM_001272003,NM_020822 KCNT1,KCNT1 EXON Missense_E803G,Missense_E848G exm796438 9 138670668 [A/G] NM_001272003,NM_020822 KCNT1,KCNT1 EXON Missense_R865Q,Missense_R910Q exm796455 9 138676438 [A/G] NM_001272003,NM_020822 KCNT1,KCNT1 EXON Missense_T956A,Missense_T1001A exm796479 9 138678104 [T/G] NM_001272003,NM_020822 KCNT1,KCNT1 EXON Missense_G1035V,Missense_G1080V exm796492 9 138678253 [A/G] NM_001272003,NM_020822 KCNT1,KCNT1 EXON Missense_A1085T,Missense_A1130T exm796512 9 138683719 [T/A] NM_001272003,NM_020822 KCNT1,KCNT1 EXON Missense_S1169R,Missense_S1193R exm796522 9 138683940 [A/G] NM_001272003,NM_020822 KCNT1,KCNT1 EXON Missense_R1190Q,Missense_R1214Q exm796527 9 138683981 [A/G] NM_001272003,NM_020822 KCNT1,KCNT1 EXON Missense_E1204K,Missense_E1228K exm796528 9 138683984 [A/G] NM_001272003,NM_020822 KCNT1,KCNT1 EXON Missense_T1205A,Missense_T1229A exm796532 9 138683993 [A/G] NM_001272003,NM_020822 KCNT1,KCNT1 EXON Missense_E1208K,Missense_E1232K exm796554 9 138709824 [T/G] NM_015447 CAMSAP1 EXON Synonymous_R1424R exm796561 9 138709910 [T/C] NM_015447 CAMSAP1 EXON Missense_R1395Q exm796565 9 138710347 [T/C] NM_015447 CAMSAP1 EXON Missense_G1359S exm796578 9 138712707 [A/G] NM_015447 CAMSAP1 EXON Missense_P1267L exm2189359 9 138712896 [T/C] NM_015447 CAMSAP1 EXON Missense_S1204N exm796608 9 138713196 [A/G] NM_015447 CAMSAP1 EXON Missense_P1104L exm796611 9 138713281 [T/C] NM_015447 CAMSAP1 EXON Missense_V1076M exm796612 9 138713322 [T/C] NM_015447 CAMSAP1 EXON Missense_N1062S exm796654 9 138714313 [A/T] NM_015447 CAMSAP1 EXON Missense_T732S exm796663 9 138714469 [G/C] NM_015447 CAMSAP1 EXON Missense_G680R exm796670 9 138714597 [T/C] NM_015447 CAMSAP1 EXON Missense_R637Q exm796671 9 138714612 [A/G] NM_015447 CAMSAP1 EXON Missense_P632L exm796681 9 138714802 [A/G] NM_015447 CAMSAP1 EXON Missense_L569F exm796683 9 138714814 [A/G] NM_015447 CAMSAP1 EXON Missense_R565W exm796685 9 138714837 [A/G] NM_015447 CAMSAP1 EXON Missense_P557L exm796692 9 138714960 [T/C] NM_015447 CAMSAP1 EXON Missense_Q516R exm796700 9 138715080 [A/G] NM_015447 CAMSAP1 EXON Missense_A476V exm796703 9 138715102 [T/C] NM_015447 CAMSAP1 EXON Missense_A469T exm796718 9 138719281 [A/G] NM_015447 CAMSAP1 EXON Missense_Y399H exm796728 9 138719388 [A/G] NM_015447 CAMSAP1 EXON Missense_P363L exm796735 9 138754415 [A/G] NM_015447 CAMSAP1 EXON Missense_P236S exm796743 9 138774738 [T/C] NM_015447 CAMSAP1 EXON Missense_R116Q exm796744 9 138774741 [A/G] NM_015447 CAMSAP1 EXON Missense_S115F exm796759 9 138830083 [G/C] NM_016172 UBAC1 EXON Missense_P363A exm796761 9 138830120 [G/C] NM_016172 UBAC1 EXON Missense_I350M exm796762 9 138830143 [T/C] NM_016172 UBAC1 EXON Missense_D343N exm2276085 9 138830158 [T/C] NM_016172 UBAC1 EXON Missense_K338E exm796774 9 138836946 [A/C] NM_016172 UBAC1 EXON Missense_E268D exm2189406 9 138836957 [T/C] NM_016172 UBAC1 EXON Missense_A265T exm796782 9 138837034 [A/G] NM_016172 UBAC1 EXON Missense_T239M exm796802 9 138838116 [A/G] NM_016172 UBAC1 EXON Synonymous_N181N exm796805 9 138838178 [T/C] NM_016172 UBAC1 EXON Missense_E161K exm796807 9 138839644 [A/G] NM_016172 UBAC1 EXON Synonymous_D147D exm796815 9 138839708 [T/C] NM_016172 UBAC1 EXON Missense_R126Q exm796819 9 138845576 [A/G] NM_016172 UBAC1 EXON Missense_R95C exm796823 9 138847255 [A/G] NM_016172 UBAC1 EXON Missense_H49Y exm796828 9 138852926 [T/C] NM_016172 UBAC1 EXON Missense_E28G exm796829 9 138852938 [A/G] NM_016172 UBAC1 EXON Missense_A24V exm796846 9 138903547 [T/C] NM_144653 NACC2 EXON Missense_D527N exm796851 9 138903590 [A/G] NM_144653 NACC2 EXON Synonymous_D512D exm796867 9 138903733 [T/C] NM_144653 NACC2 EXON Missense_M465V exm796892 9 139008576 [T/C] NM_152833,NM_001256526 C9orf69,C9orf69 EXON Synonymous_L57L,Synonymous_L57L exm796894 9 139008603 [A/G] NM_152833,NM_001256526 C9orf69,C9orf69 EXON Synonymous_R48R,Synonymous_R48R exm796895 9 139008606 [T/C] NM_152833,NM_001256526 C9orf69,C9orf69 EXON Synonymous_T47T,Synonymous_T47T exm796917 9 139089436 [C/G] NM_014564,NM_178138 LHX3,LHX3 EXON Missense_R315P,Missense_R310P exm796918 9 139089445 [C/G] NM_014564,NM_178138 LHX3,LHX3 EXON Missense_R312P,Missense_R307P exm796940 9 139091601 [T/G] NM_014564,NM_178138 LHX3,LHX3 EXON Missense_A131D,Missense_A126D exm796955 9 139092585 [T/C] NM_014564,NM_178138 LHX3,LHX3 EXON Missense_A37T,Missense_A32T exm796971 9 139100608 [T/C] NM_181701 QSOX2 EXON Missense_R688Q exm796977 9 139100675 [T/C] NM_181701 QSOX2 EXON Missense_V666M exm796992 9 139100881 [C/G] NM_181701 QSOX2 EXON Missense_P597R exm2259229 9 139100889 [A/G] NM_181701 QSOX2 EXON Synonymous_L594L exm797014 9 139103263 [T/C] NM_181701 QSOX2 EXON Missense_M466V exm797015 9 139103277 [A/G] NM_181701 QSOX2 EXON Missense_A461V exm2247783 9 139103284 [A/G] NM_181701 QSOX2 EXON Missense_P459S exm797024 9 139107095 [T/C] NM_181701 QSOX2 EXON Missense_R422Q exm797035 9 139110556 [A/G] NM_181701 QSOX2 EXON Missense_T352M exm797040 9 139110652 [A/G] NM_181701 QSOX2 EXON Missense_S320L exm797041 9 139110654 [T/C] NM_181701 QSOX2 EXON Synonymous_K319K exm797046 9 139110948 [T/C] NM_181701 QSOX2 EXON Missense_K295R exm797052 9 139110993 [A/G] NM_181701 QSOX2 EXON Missense_A280V exm-rs7849585 9 139111870 [T/G] NM_181701 QSOX2 Silent exm2189498 9 139115664 [T/C] NM_181701 QSOX2 EXON Missense_G207D exm797069 9 139115869 [A/G] NM_181701 QSOX2 EXON Missense_R190C exm2259230 9 139115945 [T/C] NM_181701 QSOX2 EXON Synonymous_E164E exm797083 9 139118667 [T/G] NM_181701 QSOX2 EXON Missense_Q128K exm-rs12338076 9 139121740 [A/C] NM_181701 QSOX2 Silent exm2262609 9 139144609 [A/C] exm797120 9 139230523 [T/C] NM_015597,NM_001145638 GPSM1,GPSM1 EXON Missense_R131W,Missense_R131W exm797131 9 139231489 [A/G] NM_015597,NM_001145638 GPSM1,GPSM1 EXON Missense_D180N,Missense_D180N exm797140 9 139232005 [T/C] NM_015597,NM_001145638 GPSM1,GPSM1 EXON Missense_T229M,Missense_T229M exm2189540 9 139233113 [A/G] NM_015597,NM_001145638 GPSM1,GPSM1 EXON Missense_R307H,Missense_R307H exm797174 9 139235415 [T/C] NM_015597,NM_001145638 GPSM1,GPSM1 EXON Missense_S391L,Missense_S391L exm797179 9 139235526 [A/C] NM_015597,NM_001145638 GPSM1,GPSM1 EXON Nonsense_S428X,Silent exm797181 9 139235559 [A/G] NM_015597,NM_001145638 GPSM1,GPSM1 EXON Missense_R439H,Silent exm797184 9 139235606 [C/G] NM_015597,NM_001145638 GPSM1,GPSM1 EXON Missense_A455P,Silent exm797186 9 139243167 [T/C] NM_001145638 GPSM1 EXON Missense_T409M exm2275294 9 139243218 [A/G] NM_001145638 GPSM1 EXON Missense_R426Q exm797201 9 139244192 [A/G] NM_001145638 GPSM1 EXON Missense_V478I exm2259231 9 139250804 [A/G] NM_001145638,NM_001145639,NM_001200003 GPSM1,GPSM1,GPSM1 EXON Synonymous_S541S,Synonymous_S32S,Synonymous_S32S exm797220 9 139250874 [A/G] NM_001145638,NM_001145639,NM_001200003 GPSM1,GPSM1,GPSM1 EXON Missense_D565N,Missense_D56N,Missense_D56N exm797224 9 139250949 [A/G] NM_001145638,NM_001145639,NM_001200003 GPSM1,GPSM1,GPSM1 EXON Missense_G590S,Missense_G81S,Missense_G81S exm797226 9 139250955 [A/C] NM_001145638,NM_001145639,NM_001200003 GPSM1,GPSM1,GPSM1 EXON Missense_P592T,Missense_P83T,Missense_P83T exm797245 9 139256468 [G/C] NM_001080849,NR_073565 DNLZ,DNLZ EXON Missense_S178T,Silent exm797247 9 139256477 [A/G] NM_001080849,NR_073565 DNLZ,DNLZ EXON Missense_T175M,Silent exm797248 9 139256495 [T/G] NM_001080849,NR_073565 DNLZ,DNLZ EXON Missense_P169H,Silent exm797250 9 139256513 [A/G] NM_001080849,NR_073565 DNLZ,DNLZ EXON Missense_A163V,Silent exm-rs3829109 9 139256766 [A/G] NM_001080849,NR_073565 DNLZ,DNLZ Silent,Silent exm797264 9 139257451 [T/C] NM_001080849,NR_073565 DNLZ,DNLZ EXON Missense_N120D,Silent exm797270 9 139257505 [T/C] NM_001080849,NR_073565 DNLZ,DNLZ EXON Missense_G102S,Silent exm797272 9 139257508 [A/G] NM_001080849,NR_073565 DNLZ,DNLZ EXON Missense_P101S,Silent exm797274 9 139257520 [T/C] NM_001080849,NR_073565 DNLZ,DNLZ EXON Missense_I97V,Silent exm797289 9 139258794 [T/G] NM_052814,NM_052813 CARD9,CARD9 EXON Silent,Missense_N524T exm797292 9 139258965 [T/C] NM_052814,NM_052813 CARD9,CARD9 EXON Silent,Missense_R494H exm797295 9 139259592 [C/G] NM_052814,NM_052813 CARD9,CARD9 Silent,Silent exm797298 9 139259604 [A/G] NM_052814,NM_052813 CARD9,CARD9 EXON Missense_R475W,Missense_R475W exm797304 9 139259654 [C/G] NM_052814,NM_052813 CARD9,CARD9 EXON Missense_G458A,Missense_G458A exm797327 9 139262205 [C/G] NM_052814,NM_052813 CARD9,CARD9 EXON Missense_V385L,Missense_V385L exm797331 9 139262253 [T/C] NM_052814,NM_052813 CARD9,CARD9 EXON Missense_A369T,Missense_A369T exm2189609 9 139264281 [T/C] NM_052814,NM_052813 CARD9,CARD9 EXON Missense_R333H,Missense_R333H exm797353 9 139264888 [T/A] NM_052814,NM_052813 CARD9,CARD9 EXON Missense_E270V,Missense_E270V exm797368 9 139265120 [T/C] NM_052814,NM_052813 CARD9,CARD9 EXON Missense_E221K,Missense_E221K exm2259232 9 139265407 [A/G] NM_052814,NM_052813 CARD9,CARD9 EXON Synonymous_G171G,Synonymous_G171G exm797379 9 139265409 [T/C] NM_052814,NM_052813 CARD9,CARD9 EXON Missense_G171S,Missense_G171S exm797380 9 139265412 [T/C] NM_052814,NM_052813 CARD9,CARD9 EXON Missense_A170T,Missense_A170T exm797381 9 139265456 [T/C] NM_052814,NM_052813 CARD9,CARD9 EXON Missense_R155H,Missense_R155H exm797383 9 139265478 [A/G] NM_052814,NM_052813 CARD9,CARD9 EXON Missense_R148W,Missense_R148W exm797389 9 139265596 [A/G] NM_052814,NM_052813 CARD9,CARD9 EXON Synonymous_D108D,Synonymous_D108D exm-rs10781499 9 139266405 [A/G] NM_052814,NM_052813 CARD9,CARD9 EXON Synonymous_P42P,Synonymous_P42P exm797404 9 139266445 [T/C] NM_052814,NM_052813 CARD9,CARD9 EXON Missense_R29H,Missense_R29H exm797410 9 139266496 [T/C] NM_052814,NM_052813 CARD9,CARD9 EXON Missense_S12N,Missense_S12N exm-rs10781500 9 139269338 [T/C] exm797422 9 139270830 [T/C] NM_003086 SNAPC4 EXON Missense_R1463Q exm797429 9 139270876 [A/G] NM_003086 SNAPC4 EXON Missense_P1448S exm797436 9 139272009 [T/C] NM_003086 SNAPC4 EXON Missense_T1424A exm797438 9 139272017 [A/G] NM_003086 SNAPC4 EXON Missense_T1421M exm797442 9 139272045 [A/C] NM_003086 SNAPC4 EXON Missense_A1412S exm797446 9 139272098 [A/G] NM_003086 SNAPC4 EXON Missense_S1394L exm797451 9 139272119 [T/C] NM_003086 SNAPC4 EXON Missense_R1387H exm797453 9 139272128 [T/C] NM_003086 SNAPC4 EXON Missense_Q1384R exm797467 9 139272285 [T/C] NM_003086 SNAPC4 EXON Missense_V1332M exm2189654 9 139272402 [A/G] NM_003086 SNAPC4 EXON Missense_R1293C exm797494 9 139272659 [A/G] NM_003086 SNAPC4 EXON Missense_P1207L exm2189658 9 139272701 [A/G] NM_003086 SNAPC4 EXON Missense_A1193V exm797503 9 139272743 [T/G] NM_003086 SNAPC4 EXON Missense_Q1179P exm797508 9 139272815 [A/G] NM_003086 SNAPC4 EXON Missense_P1155L exm797530 9 139273290 [T/C] NM_003086 SNAPC4 EXON Missense_E997K exm797534 9 139273339 [T/G] NM_003086 SNAPC4 EXON Missense_R980S exm797536 9 139273394 [T/G] NM_003086 SNAPC4 EXON Missense_K962T exm797540 9 139273404 [T/C] NM_003086 SNAPC4 EXON Missense_A959T exm797549 9 139273485 [C/G] NM_003086 SNAPC4 EXON Missense_P932A exm797556 9 139273661 [T/C] NM_003086 SNAPC4 EXON Missense_R873H exm797558 9 139273668 [C/G] NM_003086 SNAPC4 EXON Missense_V871L exm797569 9 139275200 [A/G] NM_003086 SNAPC4 EXON Missense_L831F exm797574 9 139275294 [C/G] NM_003086 SNAPC4 EXON Missense_H799Q exm797577 9 139275780 [A/C] NM_003086 SNAPC4 EXON Missense_F794L exm797579 9 139275844 [A/G] NM_003086 SNAPC4 EXON Missense_A773V exm797584 9 139276291 [T/C] NM_003086 SNAPC4 EXON Missense_V768I exm797590 9 139276351 [T/C] NM_003086 SNAPC4 EXON Missense_V748M exm797603 9 139276462 [T/C] NM_003086 SNAPC4 EXON Missense_V711M exm797612 9 139276779 [A/G] NM_003086 SNAPC4 EXON Missense_R665C exm797624 9 139277765 [A/G] NM_003086 SNAPC4 EXON Missense_A619V exm2189688 9 139277766 [T/C] NM_003086 SNAPC4 EXON Missense_A619T exm2189689 9 139277793 [T/C] NM_003086 SNAPC4 EXON Missense_G610S exm797631 9 139277886 [T/C] NM_003086 SNAPC4 EXON Missense_T579A exm797650 9 139278407 [G/C] NM_003086 SNAPC4 EXON Missense_G500R exm797654 9 139279173 [A/G] NM_003086 SNAPC4 EXON Synonymous_V473V exm797658 9 139279245 [T/G] NM_003086 SNAPC4 EXON Missense_F449L exm797663 9 139282289 [T/C] NM_003086 SNAPC4 EXON Missense_M379V exm797683 9 139286443 [A/G] NM_003086 SNAPC4 EXON Missense_A309V exm797684 9 139286458 [T/C] NM_003086 SNAPC4 EXON Missense_R304Q exm2189726 9 139288732 [A/G] NM_003086 SNAPC4 EXON Synonymous_L201L exm797714 9 139288764 [A/G] NM_003086 SNAPC4 EXON Missense_A190V exm797732 9 139290090 [T/C] NM_003086 SNAPC4 EXON Missense_A104T exm797735 9 139290204 [T/C] NM_003086 SNAPC4 EXON Missense_E66K exm797745 9 139292751 [T/C] NM_003086 SNAPC4 EXON Missense_D44N exm797748 9 139292762 [T/C] NM_003086 SNAPC4 EXON Missense_D40G exm797754 9 139292835 [T/C] NM_003086 SNAPC4 EXON Missense_E16K exm797758 9 139297277 [C/G] NM_001039708,NM_006643,NM_001039707 SDCCAG3,SDCCAG3,SDCCAG3 EXON Missense_R351T,Missense_R401T,Missense_R424T exm797765 9 139298509 [C/G] NM_001039708,NM_006643,NM_001039707 SDCCAG3,SDCCAG3,SDCCAG3 EXON Missense_I329M,Missense_I379M,Missense_I402M exm797775 9 139298607 [A/G] NM_001039708,NM_006643,NM_001039707 SDCCAG3,SDCCAG3,SDCCAG3 EXON Missense_R297W,Missense_R347W,Missense_R370W exm797777 9 139298625 [A/G] NM_001039708,NM_006643,NM_001039707 SDCCAG3,SDCCAG3,SDCCAG3 EXON Nonsense_R291X,Nonsense_R341X,Nonsense_R364X exm2189748 9 139299121 [A/G] NM_001039708,NM_006643,NM_001039707 SDCCAG3,SDCCAG3,SDCCAG3 EXON Missense_H271Y,Missense_H321Y,Missense_H344Y exm797785 9 139299543 [A/G] NM_001039708,NM_006643,NM_001039707 SDCCAG3,SDCCAG3,SDCCAG3 EXON Synonymous_T262T,Synonymous_T312T,Synonymous_T335T exm797788 9 139299615 [G/C] NM_001039708,NM_006643,NM_001039707 SDCCAG3,SDCCAG3,SDCCAG3 EXON Missense_I238M,Missense_I288M,Missense_I311M exm797792 9 139299637 [T/C] NM_001039708,NM_006643,NM_001039707 SDCCAG3,SDCCAG3,SDCCAG3 EXON Missense_R231Q,Missense_R281Q,Missense_R304Q exm797807 9 139301658 [A/G] NM_001039708,NM_006643,NM_001039707 SDCCAG3,SDCCAG3,SDCCAG3 EXON Missense_A180V,Missense_A230V,Missense_A253V exm797829 9 139301916 [A/G] NM_001039708,NM_006643,NM_001039707 SDCCAG3,SDCCAG3,SDCCAG3 EXON Missense_P94L,Missense_P144L,Missense_P167L exm797834 9 139301959 [T/C] NM_001039708,NM_006643,NM_001039707 SDCCAG3,SDCCAG3,SDCCAG3 EXON Missense_G80S,Missense_G130S,Missense_G153S exm797836 9 139301971 [A/G] NM_001039708,NM_006643,NM_001039707 SDCCAG3,SDCCAG3,SDCCAG3 EXON Missense_P76S,Missense_P126S,Missense_P149S exm797843 9 139302312 [G/C] NM_001039708,NM_006643,NM_001039707 SDCCAG3,SDCCAG3,SDCCAG3 EXON Missense_S50W,Missense_S100W,Missense_S123W exm797855 9 139304551 [T/C] NM_001039708,NM_006643,NM_001039707 SDCCAG3,SDCCAG3,SDCCAG3 EXON Silent,Missense_G71R,Missense_G71R exm797868 9 139305140 [A/C] NM_015160 PMPCA EXON Missense_A7E exm2247797 9 139306513 [T/G] NM_015160 PMPCA EXON Missense_S46A exm797876 9 139306541 [T/C] NM_015160 PMPCA EXON Missense_V55A exm797878 9 139306606 [T/C] NM_015160 PMPCA EXON Missense_R77C exm797881 9 139306643 [T/C] NM_015160 PMPCA EXON Missense_T89I exm797884 9 139306980 [T/C] NM_015160 PMPCA EXON Missense_L105F exm797887 9 139309031 [T/C] NM_015160 PMPCA EXON Missense_A155V exm797888 9 139309043 [T/G] NM_015160 PMPCA EXON Missense_G159V exm2189791 9 139311404 [T/C] NM_015160 PMPCA EXON Missense_A212V exm797915 9 139312488 [T/A] NM_015160 PMPCA EXON Missense_N306I exm797928 9 139313085 [A/G] NM_015160 PMPCA EXON Missense_K357E exm797947 9 139316327 [T/C] NM_015160 PMPCA EXON Missense_M436T exm797962 9 139317652 [T/A] NM_015160 PMPCA EXON Missense_H505L exm-rs8413 9 139323311 [T/C] NM_019892 INPP5E EXON Silent exm797976 9 139324201 [A/G] NM_019892 INPP5E EXON Missense_R621W exm797983 9 139324801 [G/C] NM_019892 INPP5E EXON Missense_P577R exm797986 9 139324834 [T/C] NM_019892 INPP5E EXON Missense_G566D exm797993 9 139325568 [A/C] NM_019892 INPP5E EXON Synonymous_G517G exm798004 9 139326437 [A/G] NM_019892 INPP5E EXON Missense_A463V exm798010 9 139326993 [A/G] NM_019892 INPP5E EXON Missense_T442I exm798034 9 139327634 [A/G] NM_019892 INPP5E EXON Missense_R378C exm798046 9 139329253 [T/C] NM_019892 INPP5E EXON Missense_R292H exm798048 9 139329284 [T/C] NM_019892 INPP5E EXON Missense_G282R exm798053 9 139333081 [T/C] NM_019892 INPP5E EXON Missense_R264H exm798059 9 139333249 [A/G] NM_019892 INPP5E EXON Missense_T208I exm798095 9 139340155 [A/G] NM_001276418,NM_014866 SEC16A,SEC16A EXON Silent,Missense_A2270V exm798101 9 139341700 [T/C] NM_001276418,NM_014866 SEC16A,SEC16A EXON Missense_N2226D,Missense_N2226D exm798109 9 139342047 [A/G] NM_001276418,NM_014866 SEC16A,SEC16A EXON Missense_P2178L,Missense_P2178L exm798110 9 139342071 [A/G] NM_001276418,NM_014866 SEC16A,SEC16A EXON Missense_A2170V,Missense_A2170V exm798115 9 139342564 [A/G] NM_001276418,NM_014866 SEC16A,SEC16A EXON Missense_A2121V,Missense_A2121V exm798130 9 139345847 [A/G] NM_001276418,NM_014866 SEC16A,SEC16A EXON Missense_T2058M,Missense_T2058M exm798134 9 139347899 [A/T] NM_001276418,NM_014866 SEC16A,SEC16A EXON Missense_D2047V,Missense_D2047V exm798139 9 139347953 [A/G] NM_001276418,NM_014866 SEC16A,SEC16A EXON Missense_P2029L,Missense_P2029L exm798143 9 139348707 [A/G] NM_001276418,NM_014866 SEC16A,SEC16A EXON Missense_P1977L,Missense_P1977L exm798144 9 139348749 [A/G] NM_001276418,NM_014866 SEC16A,SEC16A EXON Missense_A1963V,Missense_A1963V exm798146 9 139348770 [A/G] NM_001276418,NM_014866 SEC16A,SEC16A EXON Missense_T1956M,Missense_T1956M exm798149 9 139350082 [A/G] NM_001276418,NM_014866 SEC16A,SEC16A EXON Missense_S1943L,Missense_S1943L exm798150 9 139350125 [T/C] NM_001276418,NM_014866 SEC16A,SEC16A EXON Missense_A1929T,Missense_A1929T exm798152 9 139350208 [A/G] NM_001276418,NM_014866 SEC16A,SEC16A EXON Missense_P1901L,Missense_P1901L exm798154 9 139350516 [A/G] NM_001276418,NM_014866 SEC16A,SEC16A EXON Missense_R1885W,Missense_R1885W exm798158 9 139350552 [A/C] NM_001276418,NM_014866 SEC16A,SEC16A EXON Missense_A1873S,Missense_A1873S exm798186 9 139354251 [T/C] NM_001276418,NM_014866 SEC16A,SEC16A EXON Missense_D1717N,Missense_D1717N exm798191 9 139354501 [A/G] NM_001276418,NM_014866 SEC16A,SEC16A EXON Missense_A1689V,Missense_A1689V exm798216 9 139357412 [A/G] NM_001276418,NM_014866 SEC16A,SEC16A EXON Missense_P1607L,Missense_P1607L exm2247800 9 139357535 [A/G] NM_001276418,NM_014866 SEC16A,SEC16A EXON Missense_T1566I,Missense_T1566I exm798231 9 139358004 [T/C] NM_001276418,NM_014866 SEC16A,SEC16A EXON Missense_M1520V,Missense_M1520V exm798240 9 139360441 [T/C] NM_001276418,NM_014866 SEC16A,SEC16A EXON Missense_D1426N,Missense_D1426N exm2259234 9 139360448 [A/G] NM_001276418,NM_014866 SEC16A,SEC16A EXON Synonymous_Y1423Y,Synonymous_Y1423Y exm798244 9 139360474 [T/C] NM_001276418,NM_014866 SEC16A,SEC16A EXON Missense_G1415S,Missense_G1415S exm798254 9 139360719 [T/G] NM_001276418,NM_014866 SEC16A,SEC16A EXON Missense_H1375Q,Missense_H1375Q exm798257 9 139360781 [A/G] NM_001276418,NM_014866 SEC16A,SEC16A EXON Missense_R1355W,Missense_R1355W exm798263 9 139360910 [T/C] NM_001276418,NM_014866 SEC16A,SEC16A EXON Missense_E1312K,Missense_E1312K exm798267 9 139361472 [T/C] NM_001276418,NM_014866 SEC16A,SEC16A EXON Missense_R1289Q,Missense_R1289Q exm798268 9 139362876 [T/C] NM_001276418,NM_014866 SEC16A,SEC16A EXON Missense_D1265N,Missense_D1265N exm798283 9 139366547 [T/C] NM_001276418,NM_014866 SEC16A,SEC16A EXON Missense_Y1195C,Missense_Y1195C exm798285 9 139366560 [A/C] NM_001276418,NM_014866 SEC16A,SEC16A EXON Missense_V1191F,Missense_V1191F exm798291 9 139368580 [T/C] NM_001276418,NM_014866 SEC16A,SEC16A EXON Missense_R1163Q,Missense_R1163Q exm798299 9 139368802 [A/G] NM_001276418,NM_014866 SEC16A,SEC16A EXON Missense_A1089V,Missense_A1089V exm798308 9 139368953 [A/G] NM_001276418,NM_014866 SEC16A,SEC16A EXON Missense_R1039C,Missense_R1039C exm798313 9 139369002 [T/A] NM_001276418,NM_014866 SEC16A,SEC16A EXON Missense_S1022R,Missense_S1022R exm798317 9 139369066 [A/G] NM_001276418,NM_014866 SEC16A,SEC16A EXON Missense_T1001I,Missense_T1001I exm798318 9 139369079 [T/C] NM_001276418,NM_014866 SEC16A,SEC16A EXON Missense_T997A,Missense_T997A exm798319 9 139369091 [T/C] NM_001276418,NM_014866 SEC16A,SEC16A EXON Missense_A993T,Missense_A993T exm798334 9 139369408 [T/C] NM_001276418,NM_014866 SEC16A,SEC16A EXON Missense_G887E,Missense_G887E exm798339 9 139369526 [A/G] NM_001276418,NM_014866 SEC16A,SEC16A EXON Missense_S848P,Missense_S848P exm798343 9 139369615 [A/G] NM_001276418,NM_014866 SEC16A,SEC16A EXON Missense_P818L,Missense_P818L exm798354 9 139369816 [C/G] NM_001276418,NM_014866 SEC16A,SEC16A EXON Missense_A751G,Missense_A751G exm798355 9 139369825 [T/G] NM_001276418,NM_014866 SEC16A,SEC16A EXON Missense_Y748S,Missense_Y748S exm798370 9 139370060 [A/C] NM_001276418,NM_014866 SEC16A,SEC16A EXON Missense_C670G,Missense_C670G exm798373 9 139370120 [T/C] NM_001276418,NM_014866 SEC16A,SEC16A EXON Missense_A650T,Missense_A650T exm798378 9 139370185 [T/C] NM_001276418,NM_014866 SEC16A,SEC16A EXON Missense_R628H,Missense_R628H exm2259235 9 139370217 [A/G] NM_001276418,NM_014866 SEC16A,SEC16A EXON Synonymous_H617H,Synonymous_H617H exm798383 9 139370249 [T/C] NM_001276418,NM_014866 SEC16A,SEC16A EXON Missense_A607T,Missense_A607T exm798393 9 139370470 [A/C] NM_001276418,NM_014866 SEC16A,SEC16A EXON Missense_L533R,Missense_L533R exm798394 9 139370512 [T/C] NM_001276418,NM_014866 SEC16A,SEC16A EXON Missense_D519G,Missense_D519G exm798397 9 139370549 [T/C] NM_001276418,NM_014866 SEC16A,SEC16A EXON Missense_G507R,Missense_G507R exm798406 9 139370650 [T/C] NM_001276418,NM_014866 SEC16A,SEC16A EXON Missense_S473N,Missense_S473N exm798418 9 139370836 [T/C] NM_001276418,NM_014866 SEC16A,SEC16A EXON Missense_R411H,Missense_R411H exm798424 9 139370950 [T/G] NM_001276418,NM_014866 SEC16A,SEC16A EXON Missense_A373E,Missense_A373E exm798425 9 139370986 [A/G] NM_001276418,NM_014866 SEC16A,SEC16A EXON Missense_P361L,Missense_P361L exm798426 9 139370987 [A/G] NM_001276418,NM_014866 SEC16A,SEC16A EXON Missense_P361S,Missense_P361S exm798429 9 139371031 [T/C] NM_001276418,NM_014866 SEC16A,SEC16A EXON Missense_R346H,Missense_R346H exm798432 9 139371049 [T/C] NM_001276418,NM_014866 SEC16A,SEC16A EXON Missense_G340E,Missense_G340E exm798436 9 139371106 [A/G] NM_001276418,NM_014866 SEC16A,SEC16A EXON Missense_P321L,Missense_P321L exm798437 9 139371115 [T/C] NM_001276418,NM_014866 SEC16A,SEC16A EXON Missense_R318K,Missense_R318K exm798439 9 139371170 [T/C] NM_001276418,NM_014866 SEC16A,SEC16A EXON Missense_S300G,Missense_S300G exm798457 9 139371562 [A/G] NM_001276418,NM_014866 SEC16A,SEC16A EXON Missense_T169M,Missense_T169M exm798465 9 139371818 [T/C] NM_001276418,NM_014866 SEC16A,SEC16A EXON Missense_A84T,Missense_A84T exm798471 9 139371940 [A/G] NM_001276418,NM_014866 SEC16A,SEC16A EXON Missense_P43L,Missense_P43L exm798480 9 139378932 [A/G] NM_152571 C9orf163 EXON Nonsense_W11X exm798494 9 139379393 [G/C] NM_152571 C9orf163 EXON Missense_L165V exm798505 9 139390543 [T/C] NM_017617 NOTCH1 EXON Missense_I2550V exm798506 9 139390546 [A/G] NM_017617 NOTCH1 EXON Missense_R2549C exm798509 9 139390585 [T/C] NM_017617 NOTCH1 EXON Missense_V2536I exm798522 9 139390822 [G/C] NM_017617 NOTCH1 EXON Missense_L2457V exm798525 9 139390902 [G/C] NM_017617 NOTCH1 EXON Missense_G2430A exm798545 9 139391101 [T/C] NM_017617 NOTCH1 EXON Missense_S2364G exm798550 9 139391200 [T/C] NM_017617 NOTCH1 EXON Missense_A2331T exm798551 9 139391211 [T/C] NM_017617 NOTCH1 EXON Missense_R2327Q exm798561 9 139391338 [T/C] NM_017617 NOTCH1 EXON Missense_V2285I exm798562 9 139391355 [A/G] NM_017617 NOTCH1 EXON Missense_A2279V exm798563 9 139391403 [T/C] NM_017617 NOTCH1 EXON Missense_R2263Q exm798585 9 139391682 [T/C] NM_017617 NOTCH1 EXON Missense_S2170N exm798586 9 139391710 [A/G] NM_017617 NOTCH1 EXON Missense_P2161S exm798589 9 139391737 [C/G] NM_017617 NOTCH1 EXON Missense_G2152R exm798605 9 139391934 [T/C] NM_017617 NOTCH1 EXON Missense_N2086S exm798649 9 139396332 [T/C] NM_017617 NOTCH1 EXON Missense_D1836N exm798682 9 139399132 [T/C] NM_017617 NOTCH1 EXON Missense_V1671I exm798694 9 139399320 [T/C] NM_017617 NOTCH1 EXON Missense_R1608H exm798723 9 139400086 [T/C] NM_017617 NOTCH1 EXON Missense_N1421S exm798727 9 139400180 [T/G] NM_017617 NOTCH1 EXON Missense_P1390T exm798737 9 139400317 [A/G] NM_017617 NOTCH1 EXON Missense_T1344M exm798738 9 139400320 [A/G] NM_017617 NOTCH1 EXON Missense_A1343V exm798746 9 139401023 [T/C] NM_017617 NOTCH1 EXON Missense_V1324M exm798753 9 139401233 [T/C] NM_017617 NOTCH1 EXON Missense_R1279H exm798754 9 139401234 [A/G] NM_017617 NOTCH1 EXON Missense_R1279C exm798758 9 139401302 [A/G] NM_017617 NOTCH1 EXON Missense_P1256L exm798786 9 139403378 [T/C] NM_017617 NOTCH1 EXON Missense_G1039S exm798799 9 139404246 [T/C] NM_017617 NOTCH1 EXON Missense_T970A exm798803 9 139404341 [T/C] NM_017617 NOTCH1 EXON Missense_R938Q exm2259236 9 139404349 [A/G] NM_017617 NOTCH1 EXON Synonymous_P935P exm798809 9 139405111 [A/G] NM_017617 NOTCH1 EXON Missense_R912W exm798816 9 139405170 [C/G] NM_017617 NOTCH1 EXON Missense_R892P exm798828 9 139405649 [T/C] NM_017617 NOTCH1 EXON Missense_E848K exm798839 9 139407506 [T/C] NM_017617 NOTCH1 EXON Missense_G812R exm798856 9 139407979 [T/C] NM_017617 NOTCH1 EXON Missense_D740N exm798858 9 139408963 [T/C] NM_017617 NOTCH1 EXON Missense_G736R exm798860 9 139408978 [A/G] NM_017617 NOTCH1 EXON Missense_R731W exm798864 9 139409035 [T/G] NM_017617 NOTCH1 EXON Missense_T712P exm798870 9 139409068 [T/G] NM_017617 NOTCH1 EXON Missense_T701P exm798872 9 139409089 [T/C] NM_017617 NOTCH1 EXON Missense_E694K exm798876 9 139409775 [T/C] NM_017617 NOTCH1 EXON Missense_G661S exm798883 9 139409976 [T/C] NM_017617 NOTCH1 EXON Missense_R621H exm798911 9 139411768 [T/C] NM_017617 NOTCH1 EXON Missense_R504H exm798914 9 139412205 [A/G] NM_017617 NOTCH1 EXON Synonymous_P480P exm2259237 9 139412256 [A/G] NM_017617 NOTCH1 EXON Synonymous_N463N exm798920 9 139412350 [A/G] NM_017617 NOTCH1 EXON Missense_T432M exm798936 9 139413100 [C/G] NM_017617 NOTCH1 EXON Missense_A348P exm798940 9 139413211 [T/G] NM_017617 NOTCH1 EXON Missense_T311P exm798964 9 139418204 [A/G] NM_017617 NOTCH1 EXON Missense_T123M exm2259238 9 139418260 [A/G] NM_017617 NOTCH1 EXON Synonymous_N104N exm798971 9 139418309 [T/C] NM_017617 NOTCH1 EXON Missense_S88N exm2264358 9 139544437 [A/C] exm798997 9 139563043 [T/C] NR_046367,NM_016215,NR_045111,NR_045110,NM_201446 EGFL7,EGFL7,EGFL7,EGFL7,EGFL7 EXON Silent,Missense_P39S,Silent,Silent,Missense_P39S exm799016 9 139564387 [A/G] NR_046367,NM_016215,NR_045111,NR_045110,NM_201446 EGFL7,EGFL7,EGFL7,EGFL7,EGFL7 EXON Silent,Missense_R112Q,Silent,Silent,Missense_R112Q exm799019 9 139564422 [T/C] NR_046367,NM_016215,NR_045111,NR_045110,NM_201446 EGFL7,EGFL7,EGFL7,EGFL7,EGFL7 EXON Silent,Missense_R124C,Silent,Silent,Missense_R124C exm799020 9 139564423 [A/G] NR_046367,NM_016215,NR_045111,NR_045110,NM_201446 EGFL7,EGFL7,EGFL7,EGFL7,EGFL7 EXON Silent,Missense_R124H,Silent,Silent,Missense_R124H exm2190097 9 139564629 [A/G] NR_046367,NM_016215,NR_045111,NR_045110,NM_201446 EGFL7,EGFL7,EGFL7,EGFL7,EGFL7 EXON Silent,Missense_E140K,Silent,Silent,Missense_E140K exm799027 9 139564668 [A/G] NR_046367,NM_016215,NR_045111,NR_045110,NM_201446 EGFL7,EGFL7,EGFL7,EGFL7,EGFL7 EXON Silent,Missense_V153I,Silent,Silent,Missense_V153I exm799057 9 139566509 [G/C] NR_046367,NM_016215,NR_045111,NR_045110,NM_201446 EGFL7,EGFL7,EGFL7,EGFL7,EGFL7 EXON Silent,Missense_Q256H,Silent,Silent,Missense_Q256H exm799065 9 139566734 [T/C] NR_046367,NM_016215,NR_045111,NR_045110,NM_201446 EGFL7,EGFL7,EGFL7,EGFL7,EGFL7 EXON Silent,Missense_S273L,Silent,Silent,Missense_S273L exm799082 9 139568280 [A/G] NM_001012727,NM_006412 AGPAT2,AGPAT2 EXON Missense_T222I,Missense_T254I exm799089 9 139568325 [A/G] NM_001012727,NM_006412 AGPAT2,AGPAT2 EXON Missense_A207V,Missense_A239V exm799091 9 139568328 [A/G] NM_001012727,NM_006412 AGPAT2,AGPAT2 EXON Missense_A206V,Missense_A238V exm799095 9 139569201 [T/A] NM_001012727,NM_006412 AGPAT2,AGPAT2 EXON Missense_K184M,Missense_K216M exm799097 9 139569208 [T/C] NM_001012727,NM_006412 AGPAT2,AGPAT2 EXON Missense_K182E,Missense_K214E exm799098 9 139569261 [T/C] NM_001012727,NM_006412 AGPAT2,AGPAT2 Silent,Silent exm799105 9 139571430 [A/G] NM_001012727,NM_006412 AGPAT2,AGPAT2 EXON Missense_R159C,Missense_R159C exm799106 9 139571444 [T/G] NM_001012727,NM_006412 AGPAT2,AGPAT2 EXON Missense_A154D,Missense_A154D exm799109 9 139571471 [T/C] NM_001012727,NM_006412 AGPAT2,AGPAT2 EXON Missense_R145H,Missense_R145H exm799116 9 139571546 [T/C] NM_001012727,NM_006412 AGPAT2,AGPAT2 EXON Missense_K120R,Missense_K120R exm799132 9 139571962 [A/G] NM_001012727,NM_006412 AGPAT2,AGPAT2 EXON Missense_R77C,Missense_R77C exm799150 9 139612053 [T/C] NM_152421 FAM69B EXON Missense_R30C exm799154 9 139612126 [T/C] NM_152421 FAM69B EXON Missense_S54L exm799158 9 139612140 [A/G] NM_152421 FAM69B EXON Missense_G59S exm2247821 9 139612156 [T/C] NM_152421 FAM69B EXON Missense_V64A exm799159 9 139612162 [T/C] NM_152421 FAM69B EXON Missense_I66T exm799174 9 139616652 [T/C] NM_152421 FAM69B EXON Missense_R128W exm799182 9 139616695 [A/G] NM_152421 FAM69B EXON Missense_K142R exm799187 9 139616742 [A/G] NM_152421 FAM69B EXON Missense_S158G exm799194 9 139617442 [T/C] NM_152421 FAM69B EXON Missense_P171L exm799198 9 139617470 [A/G] NM_152421 FAM69B EXON Missense_M180I exm799202 9 139617493 [A/G] NM_152421 FAM69B EXON Missense_R188Q exm799248 9 139617985 [A/G] NM_152421 FAM69B EXON Missense_R352K exm799250 9 139618008 [A/G] NM_152421 FAM69B EXON Missense_D360N exm799253 9 139618041 [A/G] NM_152421 FAM69B EXON Missense_A371T exm799290 9 139634458 [A/G] NM_001001712 LCN10 EXON Missense_M173T exm799291 9 139634495 [A/G] NM_001001712 LCN10 EXON Nonsense_Q161X exm799292 9 139635287 [T/C] NM_001001712 LCN10 Silent exm799296 9 139635332 [T/C] NM_001001712 LCN10 EXON Missense_R144H exm799299 9 139635387 [T/C] NM_001001712 LCN10 EXON Missense_V126M exm799318 9 139636468 [A/G] NM_001001712 LCN10 EXON Missense_S41L exm2190189 9 139639092 [A/G] NM_198946 LCN6 EXON Silent exm799331 9 139639148 [T/C] NM_198946 LCN6 EXON Missense_K153R exm2190194 9 139639622 [T/C] NM_198946 LCN6 EXON Missense_S138G exm799335 9 139639650 [T/G] NM_198946 LCN6 EXON Missense_D128E exm2259240 9 139639713 [G/C] NM_198946 LCN6 EXON Synonymous_L107L exm799338 9 139639715 [T/G] NM_198946 LCN6 EXON Missense_L107I exm799340 9 139639729 [A/G] NM_198946 LCN6 EXON Missense_I102T exm799348 9 139640311 [C/G] NM_198946 LCN6 EXON Missense_V96L exm2190203 9 139641990 [A/G] NM_198946,NR_033913 LCN6,LOC100128593 EXON Missense_A39V,Silent exm799363 9 139641997 [T/C] NM_198946,NR_033913 LCN6,LOC100128593 EXON Missense_V37M,Silent exm799369 9 139642875 [T/C] NM_198946,NR_033913 LCN6,LOC100128593 EXON Missense_V21M,Silent exm799372 9 139642895 [A/G] NM_198946,NR_033913 LCN6,LOC100128593 EXON Missense_S14L,Silent exm799373 9 139642896 [A/G] NM_198946,NR_033913 LCN6,LOC100128593 EXON Missense_S14P,Silent exm799374 9 139642898 [A/G] NM_198946,NR_033913 LCN6,LOC100128593 EXON Missense_V13A,Silent exm799384 9 139649612 [A/C] NM_178469 LCN8 EXON Missense_G141V exm799390 9 139649701 [T/C] NM_178469 LCN8 EXON Missense_R139Q exm799391 9 139649705 [A/C] NM_178469 LCN8 EXON Missense_A138S exm799397 9 139649761 [T/C] NM_178469 LCN8 EXON Missense_R119Q exm799410 9 139649967 [T/G] NM_178469 LCN8 EXON Synonymous_G76G exm799419 9 139650994 [A/G] NM_178469 LCN8 EXON Missense_T69M exm799431 9 139651565 [A/G] NM_178469 LCN8 EXON Missense_T27M exm799458 9 139656670 [T/C] NM_203347 LCN15 EXON Missense_K164E exm799462 9 139656706 [A/C] NM_203347 LCN15 EXON Missense_S152A exm799473 9 139657874 [G/C] NM_203347 LCN15 EXON Missense_S118C exm799477 9 139657919 [A/G] NM_203347 LCN15 EXON Missense_A103V exm2259241 9 139658201 [A/G] NM_203347 LCN15 EXON Synonymous_L91L exm799480 9 139658233 [A/G] NM_203347 LCN15 EXON Missense_A80V exm799485 9 139658350 [T/C] NM_203347 LCN15 EXON Missense_G70S exm799488 9 139658443 [T/C] NM_203347 LCN15 EXON Missense_V39M exm799514 9 139686410 [T/G] NM_032928 TMEM141 EXON Missense_A45S exm799515 9 139686439 [G/C] NM_032928 TMEM141 EXON Missense_R54S exm799527 9 139687270 [A/G] NM_032928 TMEM141 Silent exm2190248 9 139693563 [A/G] NM_001039374 KIAA1984 EXON Missense_R27Q exm799537 9 139693596 [T/C] NM_001039374 KIAA1984 EXON Missense_M38T exm799546 9 139694455 [A/T] NM_001039374 KIAA1984 EXON Missense_V91E exm799547 9 139694457 [G/C] NM_001039374 KIAA1984 EXON Missense_V92L exm799552 9 139694521 [T/G] NM_001039374 KIAA1984 EXON Missense_L113R exm799564 9 139697135 [T/C] NM_001039374 KIAA1984 EXON Missense_I188T exm799571 9 139697186 [T/C] NM_001039374 KIAA1984 EXON Missense_S205L exm799578 9 139697231 [A/G] NM_001039374 KIAA1984 EXON Missense_E220G exm799582 9 139698994 [A/G] NM_001039374,NR_024580 KIAA1984,KIAA1984-AS1 EXON Missense_R236H,Silent exm799583 9 139698997 [A/G] NM_001039374,NR_024580 KIAA1984,KIAA1984-AS1 EXON Missense_R237Q,Silent exm799584 9 139699012 [A/G] NM_001039374,NR_024580 KIAA1984,KIAA1984-AS1 EXON Missense_R242Q,Silent exm799587 9 139699038 [A/G] NM_001039374,NR_024580 KIAA1984,KIAA1984-AS1 EXON Missense_D251N,Silent exm799594 9 139699244 [G/C] NM_001039374,NR_024580 KIAA1984,KIAA1984-AS1 EXON Missense_L275V,Silent exm799598 9 139699824 [T/C] NM_001039374,NR_024580 KIAA1984,KIAA1984-AS1 EXON Missense_T288I,Silent exm799601 9 139699871 [G/C] NM_001039374,NR_024580 KIAA1984,KIAA1984-AS1 EXON Missense_E304Q,Silent exm799605 9 139700605 [T/C] NM_001039374,NR_024580 KIAA1984,KIAA1984-AS1 EXON Missense_W342R,Silent exm799607 9 139700608 [T/C] NM_001039374,NR_024580 KIAA1984,KIAA1984-AS1 EXON Missense_R343W,Silent exm799609 9 139700656 [A/G] NM_001039374,NR_024580 KIAA1984,KIAA1984-AS1 EXON Missense_V359M,Silent exm799610 9 139700690 [A/G] NM_001039374,NR_024580 KIAA1984,KIAA1984-AS1 EXON Missense_S370N,Silent exm799620 9 139701108 [A/C] NM_001039374,NR_024580 KIAA1984,KIAA1984-AS1 EXON Missense_N421T,Silent exm799624 9 139701218 [G/C] NM_001039374,NR_024580 KIAA1984,KIAA1984-AS1 EXON Missense_V430L,Silent exm799630 9 139701301 [T/G] NM_001039374,NR_024580 KIAA1984,KIAA1984-AS1 EXON Missense_M457I,Silent exm799636 9 139701456 [T/C] NM_001039374,NR_024580 KIAA1984,KIAA1984-AS1 EXON Missense_S475L,Silent exm799638 9 139701486 [T/C] NM_001039374,NR_024580 KIAA1984,KIAA1984-AS1 EXON Missense_I485T,Silent exm799640 9 139701501 [A/G] NM_001039374,NR_024580 KIAA1984,KIAA1984-AS1 EXON Missense_R490Q,Silent exm799644 9 139702095 [T/C] NM_001039374,NR_024580 KIAA1984,KIAA1984-AS1 EXON Missense_R520W,Silent exm799645 9 139702125 [A/C] NM_001039374,NR_024580 KIAA1984,KIAA1984-AS1 EXON Missense_K530Q,Silent exm799662 9 139726219 [A/G] NM_024718,NM_001173989,NM_001173988 RABL6,RABL6,RABL6 EXON Missense_V169M,Missense_V169M,Missense_V169M exm799667 9 139726282 [A/G] NM_024718,NM_001173989,NM_001173988 RABL6,RABL6,RABL6 EXON Missense_D190N,Missense_D190N,Missense_D190N exm799677 9 139728202 [T/G] NM_024718,NM_001173989,NM_001173988 RABL6,RABL6,RABL6 EXON Silent,Missense_C246G,Silent exm799688 9 139731827 [A/G] NM_024718,NM_001173988 RABL6,RABL6 EXON Missense_R280H,Missense_R281H exm799702 9 139732331 [G/C] NM_024718,NM_001173988 RABL6,RABL6 EXON Missense_E382Q,Missense_E383Q exm799705 9 139732380 [A/G] NM_024718,NM_001173988 RABL6,RABL6 EXON Missense_R398H,Missense_R399H exm799710 9 139733365 [C/G] NM_024718,NM_001173988 RABL6,RABL6 EXON Missense_G429R,Missense_G430R exm799720 9 139733496 [C/G] NM_024718,NM_001173988 RABL6,RABL6 EXON Missense_E472D,Missense_E473D exm799735 9 139733733 [T/C] NM_024718,NM_001173988 RABL6,RABL6 EXON Missense_P518L,Missense_P519L exm799739 9 139733747 [A/G] NM_024718,NM_001173988 RABL6,RABL6 EXON Missense_G523S,Missense_G524S exm799743 9 139733778 [A/G] NM_024718,NM_001173988 RABL6,RABL6 EXON Missense_R533H,Missense_R534H exm2190319 9 139734176 [A/G] NM_024718,NM_001173988 RABL6,RABL6 EXON Missense_D597N,Missense_D598N exm799772 9 139734239 [A/G] NM_024718,NM_001173988 RABL6,RABL6 EXON Missense_A618T,Missense_A619T exm799774 9 139734272 [A/G] NM_024718,NM_001173988 RABL6,RABL6 EXON Missense_G629R,Missense_G630R exm799775 9 139734293 [A/G] NM_024718,NM_001173988 RABL6,RABL6 EXON Missense_G636R,Missense_G637R exm799776 9 139734316 [A/G] NM_024718,NM_001173988 RABL6,RABL6 EXON Synonymous_E643E,Synonymous_E644E exm799777 9 139734624 [T/C] NM_024718,NM_001173988 RABL6,RABL6 EXON Missense_P650L,Missense_P651L exm799866 9 139743890 [T/C] NM_014172,NM_001135861 PHPT1,PHPT1 EXON Missense_V3A,Missense_V3A exm799868 9 139743895 [A/G] NM_014172,NM_001135861 PHPT1,PHPT1 EXON Missense_D5N,Missense_D5N exm799875 9 139743999 [C/G] NM_014172,NM_001135861 PHPT1,PHPT1 EXON Missense_E39D,Missense_E39D exm799894 9 139745012 [T/G] NM_014172,NM_001135861 PHPT1,PHPT1 EXON Silent,Missense_G114C exm799898 9 139745227 [T/C] NM_014172,NM_001135861 PHPT1,PHPT1 EXON Synonymous_H102H,Missense_R121C exm799899 9 139745261 [T/C] NM_014172,NM_001135861 PHPT1,PHPT1 EXON Missense_P114S,Silent exm799912 9 139746869 [T/A] NM_206920 MAMDC4 EXON Missense_M1L exm799918 9 139747570 [T/G] NM_206920 MAMDC4 EXON Missense_W21C exm799923 9 139747610 [A/G] NM_206920 MAMDC4 EXON Missense_V35M exm799924 9 139747622 [A/G] NM_206920 MAMDC4 EXON Missense_V39M exm799929 9 139747787 [A/G] NM_206920 MAMDC4 EXON Missense_E69K exm799931 9 139747809 [A/G] NM_206920 MAMDC4 EXON Missense_R76Q exm2247831 9 139747836 [A/G] NM_206920 MAMDC4 EXON Nonsense_W85X exm799942 9 139748005 [A/G] NM_206920 MAMDC4 EXON Missense_M113V exm799943 9 139748023 [T/C] NM_206920 MAMDC4 EXON Nonsense_R119X exm799946 9 139748044 [A/G] NM_206920 MAMDC4 EXON Missense_A126T exm799947 9 139748063 [T/C] NM_206920 MAMDC4 EXON Missense_T132I exm799948 9 139748068 [T/C] NM_206920 MAMDC4 EXON Nonsense_R134X exm799954 9 139748282 [T/G] NM_206920 MAMDC4 EXON Missense_W170G exm799958 9 139748346 [A/G] NM_206920 MAMDC4 EXON Missense_R191Q exm799967 9 139748483 [A/G] NM_206920 MAMDC4 EXON Missense_A209T exm799974 9 139748690 [A/G] NM_206920 MAMDC4 EXON Missense_H233R exm799982 9 139748789 [A/G] NM_206920 MAMDC4 Silent exm799986 9 139749039 [A/G] NM_206920 MAMDC4 EXON Missense_R282H exm2190393 9 139749102 [A/G] NM_206920 MAMDC4 EXON Missense_R303H exm799996 9 139749229 [T/C] NM_206920 MAMDC4 EXON Missense_S317F exm800000 9 139749270 [A/G] NM_206920 MAMDC4 EXON Missense_E331K exm800005 9 139749302 [A/G] NM_206920 MAMDC4 EXON Synonymous_S341S exm800013 9 139749494 [T/C] NM_206920 MAMDC4 EXON Missense_R377C exm2190400 9 139749498 [A/G] NM_206920 MAMDC4 EXON Missense_R378Q exm800016 9 139749525 [A/G] NM_206920 MAMDC4 EXON Missense_R387Q exm800017 9 139749554 [T/C] NM_206920 MAMDC4 EXON Missense_P397S exm800025 9 139749788 [T/C] NM_206920 MAMDC4 EXON Missense_S427L exm800035 9 139750072 [A/G] NM_206920 MAMDC4 Silent exm800046 9 139750520 [T/C] NM_206920 MAMDC4 EXON Missense_R547W exm800068 9 139751164 [A/G] NM_206920 MAMDC4 EXON Missense_V575I exm800069 9 139751183 [A/G] NM_206920 MAMDC4 EXON Missense_R581Q exm800081 9 139751625 [A/C] NM_206920 MAMDC4 EXON Missense_R661S exm800083 9 139751640 [T/C] NM_206920 MAMDC4 EXON Missense_R666W exm800084 9 139751649 [A/G] NM_206920 MAMDC4 EXON Missense_E669K exm800097 9 139751879 [A/G] NM_206920 MAMDC4 EXON Missense_V723M exm800098 9 139751936 [A/G] NM_206920 MAMDC4 EXON Missense_G742S exm800101 9 139752023 [T/A] NM_206920 MAMDC4 EXON Missense_T771S exm800104 9 139752123 [T/G] NM_206920 MAMDC4 EXON Missense_V780G exm800116 9 139752515 [A/G] NM_206920 MAMDC4 EXON Missense_G850D exm800124 9 139752710 [A/G] NM_206920 MAMDC4 EXON Missense_G886R exm2190457 9 139753209 [A/G] NM_206920 MAMDC4 EXON Missense_G954R exm800144 9 139753246 [T/C] NM_206920 MAMDC4 EXON Missense_P966L exm800147 9 139753270 [A/G] NM_206920 MAMDC4 EXON Missense_R974H exm800157 9 139753547 [A/G] NM_206920 MAMDC4 EXON Missense_E1016G exm800159 9 139753555 [A/G] NM_206920 MAMDC4 EXON Missense_V1019M exm800168 9 139753685 [A/G] NM_206920 MAMDC4 EXON Missense_G1037S exm800173 9 139753751 [T/C] NM_206920 MAMDC4 EXON Nonsense_Q1059X exm800174 9 139753766 [T/C] NM_206920 MAMDC4 EXON Missense_P1064S exm800176 9 139753768 [A/G] NM_206920 MAMDC4 EXON Synonymous_P1064P exm800180 9 139754361 [A/G] NM_206920 MAMDC4 EXON Missense_V1073M exm800182 9 139754427 [T/C] NM_206920 MAMDC4 EXON Missense_R1095W exm800184 9 139754431 [A/G] NM_206920 MAMDC4 EXON Missense_R1096H exm800207 9 139757327 [T/C] NM_003792,NM_153200 EDF1,EDF1 EXON Silent,Missense_R139H exm800208 9 139757333 [T/C] NM_003792,NM_153200 EDF1,EDF1 EXON Silent,Missense_R137Q exm2190490 9 139757424 [T/C] NM_003792,NM_153200 EDF1,EDF1 EXON Missense_A107T,Missense_A107T exm2259242 9 139757752 [T/C] NM_003792,NM_153200 EDF1,EDF1 EXON Synonymous_K93K,Synonymous_K93K exm800246 9 139802567 [A/G] NM_021138 TRAF2 EXON Missense_A138T exm800247 9 139802596 [T/A] NM_021138 TRAF2 EXON Missense_E147D exm800251 9 139802625 [T/C] NM_021138 TRAF2 EXON Missense_P157L exm2259243 9 139811046 [T/C] NM_021138 TRAF2 EXON Synonymous_H219H exm800276 9 139814797 [A/G] NM_021138 TRAF2 EXON Missense_A264T exm800297 9 139818329 [A/C] NM_021138 TRAF2 EXON Nonsense_Y388X exm800300 9 139818423 [A/G] NM_021138 TRAF2 EXON Missense_A420T exm800311 9 139820309 [A/G] NM_021138 TRAF2 EXON Missense_D488N exm800339 9 139835558 [T/C] NM_018998 FBXW5 EXON Missense_R508Q exm800345 9 139835740 [A/T] NM_018998 FBXW5 EXON Missense_F474I exm800346 9 139835752 [T/C] NM_018998 FBXW5 EXON Missense_D470N exm800348 9 139835778 [T/C] NM_018998 FBXW5 EXON Missense_R461H exm800349 9 139835787 [T/C] NM_018998 FBXW5 EXON Missense_R458Q exm800350 9 139835788 [A/G] NM_018998 FBXW5 EXON Missense_R458W exm800352 9 139835802 [A/G] NM_018998 FBXW5 EXON Missense_M453T exm2259244 9 139835876 [T/C] NM_018998 FBXW5 EXON Synonymous_A428A exm800367 9 139835915 [T/C] NM_018998 FBXW5 EXON Synonymous_R415R exm800385 9 139836554 [T/C] NM_018998 FBXW5 EXON Missense_K347R exm800387 9 139836572 [T/C] NM_018998 FBXW5 EXON Missense_R341H exm800389 9 139836576 [T/C] NM_018998 FBXW5 EXON Missense_E340K exm800395 9 139836657 [A/G] NM_018998 FBXW5 EXON Missense_R313W exm800403 9 139836762 [A/G] NM_018998 FBXW5 EXON Missense_R278C exm800412 9 139836884 [T/C] NM_018998 FBXW5 EXON Missense_R237Q exm800414 9 139836912 [T/C] NM_018998 FBXW5 EXON Missense_E228K exm800422 9 139837042 [T/C] NM_018998 FBXW5 EXON Missense_D211G exm800425 9 139837049 [T/C] NM_018998 FBXW5 EXON Missense_I209V exm800426 9 139837051 [T/C] NM_018998 FBXW5 EXON Missense_R208H exm800427 9 139837052 [A/G] NM_018998 FBXW5 EXON Missense_R208C exm800430 9 139837120 [T/C] NM_018998 FBXW5 EXON Missense_R185Q exm800432 9 139837126 [T/C] NM_018998 FBXW5 EXON Missense_R183H exm800434 9 139837138 [A/G] NM_018998 FBXW5 EXON Missense_A179V exm2190607 9 139837346 [T/C] NM_018998 FBXW5 EXON Missense_R134Q exm800452 9 139837356 [T/C] NM_018998 FBXW5 EXON Missense_A131T exm800460 9 139837811 [T/C] NM_018998 FBXW5 EXON Missense_C114Y exm800479 9 139838363 [T/C] NM_018998 FBXW5 EXON Missense_R58H exm800481 9 139838414 [T/C] NM_018998 FBXW5 EXON Missense_R41Q exm800498 9 139839839 [C/G] NM_000606 C8G EXON Missense_P23A exm800501 9 139839855 [A/G] NM_000606 C8G EXON Missense_R28Q exm800508 9 139840122 [A/G] NM_000606 C8G EXON Missense_A59T exm800510 9 139840147 [A/G] NM_000606 C8G EXON Missense_G67D exm800511 9 139840153 [A/G] NM_000606 C8G EXON Missense_R69Q exm800516 9 139840215 [T/C] NM_000606 C8G EXON Nonsense_R90X exm800517 9 139840216 [A/G] NM_000606 C8G EXON Missense_R90Q exm800526 9 139840540 [G/C] NM_000606 C8G EXON Missense_R117P exm800527 9 139840543 [A/G] NM_000606 C8G EXON Missense_D118G exm800528 9 139840560 [A/C] NM_000606 C8G EXON Missense_H124N exm800533 9 139840596 [A/G] NM_000606 C8G EXON Missense_A136T exm800540 9 139840643 [T/C] NM_000606 C8G EXON Synonymous_Y151Y exm800552 9 139841003 [T/C] NM_000606 C8G EXON Missense_Y181H exm800553 9 139841017 [T/C] NM_000606 C8G EXON Synonymous_Y185Y exm2190636 9 139841101 [A/G] NM_000606 C8G Silent exm800556 9 139841132 [A/G] NM_000606 C8G EXON Missense_V196I exm800574 9 139847446 [A/G] NM_178536 LCN12 EXON Missense_D73N exm800576 9 139847471 [T/C] NM_178536 LCN12 EXON Missense_A81V exm800577 9 139847479 [T/C] NM_178536 LCN12 EXON Nonsense_R84X exm800578 9 139847480 [A/G] NM_178536 LCN12 EXON Missense_R84Q exm800583 9 139848190 [T/C] NM_178536 LCN12 EXON Missense_P97L exm800589 9 139848309 [T/C] NM_178536 LCN12 EXON Missense_A114V exm800591 9 139848326 [T/C] NM_178536 LCN12 EXON Missense_R120W exm800594 9 139848341 [A/G] NM_178536 LCN12 EXON Missense_D125N exm800598 9 139848395 [A/G] NM_178536 LCN12 EXON Missense_V143I exm800613 9 139849843 [A/G] NM_178536 LCN12 EXON Missense_V191I exm800614 9 139849847 [G/C] NM_178536 LCN12 EXON Missense_C192S exm800633 9 139872122 [A/T] NM_000954 PTGDS EXON Missense_Q31L exm800639 9 139873577 [T/G] NM_000954 PTGDS EXON Missense_F83V exm800674 9 139878950 [A/G] NM_207510 LCNL1 EXON Missense_G44D exm800676 9 139878971 [T/C] NM_207510 LCNL1 EXON Missense_T51M exm800683 9 139879170 [A/G] NM_207510 LCNL1 EXON Missense_A68T exm800685 9 139879185 [T/C] NM_207510 LCNL1 EXON Nonsense_R73X exm800688 9 139879212 [T/G] NM_207510 LCNL1 EXON Missense_F82V exm800689 9 139879216 [T/C] NM_207510 LCNL1 EXON Missense_A83V exm800691 9 139879235 [T/G] NM_207510 LCNL1 EXON Missense_M89I exm800695 9 139879312 [A/G] NM_207510 LCNL1 EXON Missense_R115H exm800710 9 139887542 [T/C] NM_183241 C9orf142 EXON Nonsense_Q90X exm800721 9 139887803 [C/G] NM_183241 C9orf142 EXON Missense_E144Q exm800739 9 139889141 [A/G] NM_004669 CLIC3 EXON Missense_P235S exm800740 9 139889162 [A/C] NM_004669 CLIC3 EXON Missense_A228S exm800753 9 139889727 [A/G] NM_004669 CLIC3 EXON Missense_P96L exm2190707 9 139889895 [T/C] NM_004669 CLIC3 EXON Missense_D90N exm800764 9 139890130 [T/G] NM_004669 CLIC3 EXON Missense_P38H exm800782 9 139902962 [T/C] NM_001606,NM_212533 ABCA2,ABCA2 EXON Missense_R2394Q,Missense_R2424Q exm2190717 9 139903028 [T/C] NM_001606,NM_212533 ABCA2,ABCA2 EXON Missense_Q2372R,Missense_Q2402R exm800789 9 139903294 [A/G] NM_001606,NM_212533 ABCA2,ABCA2 EXON Synonymous_Y2319Y,Synonymous_Y2349Y exm800797 9 139903478 [T/C] NM_001606,NM_212533 ABCA2,ABCA2 EXON Synonymous_V2285V,Synonymous_V2315V exm800798 9 139903481 [T/C] NM_001606,NM_212533 ABCA2,ABCA2 EXON Synonymous_T2284T,Synonymous_T2314T exm800805 9 139904037 [A/G] NM_001606,NM_212533 ABCA2,ABCA2 EXON Synonymous_L2230L,Synonymous_L2260L exm800807 9 139904227 [A/G] NM_001606,NM_212533 ABCA2,ABCA2 EXON Synonymous_I2208I,Synonymous_I2238I exm800815 9 139904444 [A/G] NM_001606,NM_212533 ABCA2,ABCA2 EXON Synonymous_D2162D,Synonymous_D2192D exm800824 9 139904686 [A/G] NM_001606,NM_212533 ABCA2,ABCA2 EXON Synonymous_D2104D,Synonymous_D2134D exm800827 9 139904692 [A/G] NM_001606,NM_212533 ABCA2,ABCA2 EXON Synonymous_T2102T,Synonymous_T2132T exm800828 9 139904722 [T/C] NM_001606,NM_212533 ABCA2,ABCA2 EXON Synonymous_A2092A,Synonymous_A2122A exm800836 9 139905117 [T/C] NM_001606,NM_212533 ABCA2,ABCA2 EXON Synonymous_R2043R,Synonymous_R2073R exm800839 9 139905141 [A/G] NM_001606,NM_212533 ABCA2,ABCA2 EXON Synonymous_A2035A,Synonymous_A2065A exm800840 9 139905147 [A/G] NM_001606,NM_212533 ABCA2,ABCA2 EXON Synonymous_D2033D,Synonymous_D2063D exm800846 9 139905532 [A/C] NM_001606,NM_212533 ABCA2,ABCA2 EXON Synonymous_P1983P,Synonymous_P2013P exm800852 9 139905657 [A/G] NM_001606,NM_212533 ABCA2,ABCA2 EXON Synonymous_N1968N,Synonymous_N1998N exm800856 9 139905753 [T/C] NM_001606,NM_212533 ABCA2,ABCA2 EXON Synonymous_K1936K,Synonymous_K1966K exm800862 9 139905904 [A/G] NM_001606,NM_212533 ABCA2,ABCA2 EXON Synonymous_T1918T,Synonymous_T1948T exm800872 9 139906314 [T/C] NM_001606,NM_212533 ABCA2,ABCA2 EXON Synonymous_A1839A,Synonymous_A1869A exm800874 9 139906359 [A/G] NM_001606,NM_212533 ABCA2,ABCA2 EXON Synonymous_H1824H,Synonymous_H1854H exm800877 9 139906401 [A/G] NM_001606,NM_212533 ABCA2,ABCA2 EXON Synonymous_F1810F,Synonymous_F1840F exm800879 9 139906416 [A/G] NM_001606,NM_212533 ABCA2,ABCA2 EXON Synonymous_F1805F,Synonymous_F1835F exm800887 9 139906739 [A/G] NM_001606,NM_212533 ABCA2,ABCA2 EXON Synonymous_S1759S,Synonymous_S1789S exm800888 9 139906769 [A/G] NM_001606,NM_212533 ABCA2,ABCA2 EXON Synonymous_N1749N,Synonymous_N1779N exm800889 9 139906828 [T/C] NM_001606,NM_212533 ABCA2,ABCA2 EXON Missense_V1730I,Missense_V1760I exm800893 9 139907179 [T/C] NM_001606,NM_212533 ABCA2,ABCA2 EXON Missense_R1689H,Missense_R1719H exm800919 9 139907921 [A/G] NM_001606,NM_212533 ABCA2,ABCA2 EXON Synonymous_R1514R,Synonymous_R1544R exm800927 9 139908291 [T/C] NM_001606,NM_212533 ABCA2,ABCA2 EXON Synonymous_P1480P,Synonymous_P1510P exm800933 9 139908438 [A/G] NM_001606,NM_212533 ABCA2,ABCA2 EXON Synonymous_D1431D,Synonymous_D1461D exm800934 9 139908448 [T/C] NM_001606,NM_212533 ABCA2,ABCA2 EXON Missense_R1428H,Missense_R1458H exm800949 9 139908732 [T/C] NM_001606,NM_212533 ABCA2,ABCA2 EXON Synonymous_A1376A,Synonymous_A1406A exm800950 9 139908768 [T/C] NM_001606,NM_212533 ABCA2,ABCA2 EXON Synonymous_S1364S,Synonymous_S1394S exm800958 9 139909206 [T/C] NM_001606,NM_212533 ABCA2,ABCA2 EXON Synonymous_T1313T,Synonymous_T1343T exm800959 9 139909221 [A/G] NM_001606,NM_212533 ABCA2,ABCA2 EXON Synonymous_F1308F,Synonymous_F1338F exm800965 9 139909513 [A/G] NM_001606,NM_212533 ABCA2,ABCA2 EXON Missense_P1245L,Missense_P1275L exm800971 9 139910011 [T/C] NM_001606,NM_212533 ABCA2,ABCA2 EXON Synonymous_E1184E,Synonymous_E1214E exm800976 9 139910167 [T/C] NM_001606,NM_212533 ABCA2,ABCA2 EXON Synonymous_A1158A,Synonymous_A1188A exm800994 9 139910563 [A/G] NM_001606,NM_212533 ABCA2,ABCA2 EXON Synonymous_I1056I,Synonymous_I1086I exm800999 9 139910766 [A/G] NM_001606,NM_212533 ABCA2,ABCA2 EXON Synonymous_N1027N,Synonymous_N1057N exm801000 9 139910772 [A/G] NM_001606,NM_212533 ABCA2,ABCA2 EXON Synonymous_G1025G,Synonymous_G1055G exm801021 9 139911526 [T/C] NM_001606,NM_212533 ABCA2,ABCA2 EXON Synonymous_L868L,Synonymous_L898L exm801022 9 139911532 [A/G] NM_001606,NM_212533 ABCA2,ABCA2 EXON Synonymous_F866F,Synonymous_F896F exm801023 9 139911562 [T/C] NM_001606,NM_212533 ABCA2,ABCA2 EXON Synonymous_T856T,Synonymous_T886T exm801024 9 139911571 [A/G] NM_001606,NM_212533 ABCA2,ABCA2 EXON Synonymous_L853L,Synonymous_L883L exm801029 9 139911708 [A/G] NM_001606,NM_212533 ABCA2,ABCA2 EXON Synonymous_Y831Y,Synonymous_Y861Y exm801034 9 139911777 [A/G] NM_001606,NM_212533 ABCA2,ABCA2 EXON Synonymous_Y808Y,Synonymous_Y838Y exm801037 9 139911983 [T/G] NM_001606,NM_212533 ABCA2,ABCA2 EXON Synonymous_A791A,Synonymous_A821A exm801041 9 139912047 [A/G] NM_001606,NM_212533 ABCA2,ABCA2 EXON Missense_A770V,Missense_A800V exm801042 9 139912049 [A/G] NM_001606,NM_212533 ABCA2,ABCA2 EXON Synonymous_T769T,Synonymous_T799T exm801052 9 139912484 [A/G] NM_001606,NM_212533 ABCA2,ABCA2 EXON Synonymous_D679D,Synonymous_D709D exm801059 9 139912670 [A/G] NM_001606,NM_212533 ABCA2,ABCA2 EXON Synonymous_G651G,Synonymous_G681G exm801061 9 139912682 [T/C] NM_001606,NM_212533 ABCA2,ABCA2 EXON Synonymous_G647G,Synonymous_G677G exm801062 9 139912760 [A/G] NM_001606,NM_212533 ABCA2,ABCA2 EXON Synonymous_H621H,Synonymous_H651H exm801069 9 139913235 [A/G] NM_001606,NM_212533 ABCA2,ABCA2 EXON Synonymous_D585D,Synonymous_D615D exm801070 9 139913239 [T/G] NM_001606,NM_212533 ABCA2,ABCA2 EXON Missense_H584P,Missense_H614P exm801081 9 139913697 [T/A] NM_001606,NM_212533 ABCA2,ABCA2 EXON Missense_I496N,Missense_I526N exm801087 9 139914819 [A/G] NM_001606,NM_212533 ABCA2,ABCA2 EXON Missense_A465V,Missense_A495V exm801089 9 139914827 [A/G] NM_001606,NM_212533 ABCA2,ABCA2 EXON Synonymous_Y462Y,Synonymous_Y492Y exm801090 9 139914893 [T/C] NM_001606,NM_212533 ABCA2,ABCA2 EXON Synonymous_T440T,Synonymous_T470T exm801093 9 139915148 [A/G] NM_001606,NM_212533 ABCA2,ABCA2 EXON Synonymous_N421N,Synonymous_N451N exm801117 9 139915940 [A/C] NM_001606,NM_212533 ABCA2,ABCA2 EXON Synonymous_A267A,Synonymous_A297A exm801121 9 139916016 [A/G] NM_001606,NM_212533 ABCA2,ABCA2 EXON Missense_P242L,Missense_P272L exm801129 9 139916833 [T/G] NM_001606,NM_212533 ABCA2,ABCA2 EXON Synonymous_A179A,Synonymous_A209A exm801131 9 139916879 [T/C] NM_001606,NM_212533 ABCA2,ABCA2 EXON Missense_R164H,Missense_R194H exm801146 9 139917452 [T/C] NM_001606,NM_212533 ABCA2,ABCA2 EXON Synonymous_Q72Q,Synonymous_Q102Q exm801164 9 139923324 [T/C] NM_212533,NM_207511 ABCA2,C9orf139 EXON Missense_M1V,Silent exm801166 9 139925221 [A/G] NM_207511,NM_004479 C9orf139,FUT7 EXON Silent,Missense_Y324H exm801181 9 139925383 [T/C] NM_207511,NM_004479 C9orf139,FUT7 EXON Silent,Missense_A270T exm801183 9 139925391 [A/G] NM_207511,NM_004479 C9orf139,FUT7 EXON Silent,Missense_P267L exm801184 9 139925395 [T/C] NM_207511,NM_004479 C9orf139,FUT7 EXON Silent,Missense_V266M exm2247848 9 139925446 [T/C] NM_207511,NM_004479 C9orf139,FUT7 EXON Silent,Missense_G249S exm801188 9 139925464 [A/G] NM_207511,NM_004479 C9orf139,FUT7 EXON Silent,Missense_R243C exm801191 9 139925490 [T/C] NM_207511,NM_004479 C9orf139,FUT7 EXON Silent,Missense_R234H exm801194 9 139925542 [A/G] NM_207511,NM_004479 C9orf139,FUT7 EXON Silent,Missense_P217S exm2190900 9 139925598 [G/C] NM_207511,NM_004479 C9orf139,FUT7 EXON Silent,Missense_R198P exm801215 9 139925946 [T/C] NM_207511,NM_004479 C9orf139,FUT7 EXON Silent,Missense_R82Q exm801217 9 139925983 [A/G] NM_207511,NM_004479 C9orf139,FUT7 EXON Silent,Missense_R70C exm801232 9 139927565 [T/C] NM_207511 C9orf139 EXON Missense_S17L exm801234 9 139927589 [T/G] NM_207511 C9orf139 EXON Missense_S25I exm801235 9 139927606 [T/C] NM_207511 C9orf139 EXON Missense_R31C exm801236 9 139927607 [A/G] NM_207511 C9orf139 EXON Missense_R31H exm801237 9 139927624 [T/C] NM_207511 C9orf139 EXON Missense_R37W exm801238 9 139927625 [C/G] NM_207511 C9orf139 EXON Missense_R37P exm801245 9 139929108 [A/G] NM_207511 C9orf139 EXON Missense_G59S exm801246 9 139929111 [A/G] NM_207511 C9orf139 EXON Missense_G60S exm801266 9 139929322 [A/G] NM_207511 C9orf139 EXON Missense_G130E exm801268 9 139929385 [A/G] NM_207511 C9orf139 EXON Missense_R151Q exm801281 9 139934298 [A/G] NM_015392 NPDC1 EXON Missense_R302C exm801285 9 139934423 [T/C] NM_015392 NPDC1 EXON Synonymous_P295P exm801294 9 139934887 [A/G] NM_015392 NPDC1 EXON Missense_P237L exm801296 9 139934985 [T/G] NM_015392 NPDC1 EXON Missense_P230H exm801299 9 139935010 [T/C] NM_015392 NPDC1 EXON Missense_A222T exm801303 9 139935148 [T/A] NM_015392 NPDC1 EXON Missense_S200T exm801330 9 139935564 [C/G] NM_015392 NPDC1 EXON Missense_G112A exm801331 9 139935568 [A/G] NM_015392 NPDC1 EXON Missense_S111P exm801333 9 139935577 [A/G] NM_015392 NPDC1 EXON Missense_R108W exm801339 9 139937508 [T/C] NM_015392 NPDC1 EXON Missense_G44R exm801349 9 139943159 [T/C] NM_203468,NM_001246 ENTPD2,ENTPD2 EXON Missense_V480I,Missense_V457I exm801355 9 139943313 [T/C] NM_203468,NM_001246 ENTPD2,ENTPD2 Silent,Silent exm801371 9 139944363 [T/C] NM_203468,NM_001246 ENTPD2,ENTPD2 EXON Missense_E370K,Missense_E370K exm801374 9 139944411 [A/C] NM_203468,NM_001246 ENTPD2,ENTPD2 EXON Missense_F354V,Missense_F354V exm801375 9 139944422 [T/C] NM_203468,NM_001246 ENTPD2,ENTPD2 EXON Missense_Y350C,Missense_Y350C exm801404 9 139945440 [T/C] NM_203468,NM_001246 ENTPD2,ENTPD2 EXON Missense_G230S,Missense_G230S exm801419 9 139945745 [T/C] NM_203468,NM_001246 ENTPD2,ENTPD2 EXON Missense_R155Q,Missense_R155Q exm801423 9 139945822 [A/G] NM_203468,NM_001246 ENTPD2,ENTPD2 EXON Synonymous_N129N,Synonymous_N129N exm801429 9 139946040 [A/G] NM_203468,NM_001246 ENTPD2,ENTPD2 EXON Missense_A103V,Missense_A103V exm801430 9 139946047 [T/C] NM_203468,NM_001246 ENTPD2,ENTPD2 EXON Missense_E101K,Missense_E101K exm2247852 9 139946061 [A/G] NM_203468,NM_001246 ENTPD2,ENTPD2 EXON Missense_L96P,Missense_L96P exm801437 9 139946766 [A/G] NM_203468,NM_001246 ENTPD2,ENTPD2 EXON Missense_T51M,Missense_T51M exm801438 9 139946769 [T/C] NM_203468,NM_001246 ENTPD2,ENTPD2 EXON Missense_H50R,Missense_H50R exm801452 9 139959328 [T/C] NM_178448 SAPCD2 EXON Missense_R348Q exm801469 9 139960719 [T/C] NM_178448 SAPCD2 EXON Missense_G227S exm801476 9 139960797 [A/C] NM_178448 SAPCD2 EXON Missense_D201Y exm801477 9 139960799 [A/G] NM_178448 SAPCD2 EXON Missense_A200V exm801510 9 139973090 [T/G] NM_207309 UAP1L1 EXON Missense_V211F exm801512 9 139973130 [A/G] NM_207309 UAP1L1 Silent exm801518 9 139973457 [A/G] NM_207309 UAP1L1 EXON Missense_E234K exm801520 9 139973515 [A/G] NM_207309 UAP1L1 EXON Missense_Y253C exm801535 9 139973820 [T/C] NM_207309 UAP1L1 EXON Missense_A319V exm801543 9 139974482 [A/G] NM_207309 UAP1L1 EXON Missense_V356M exm801548 9 139974533 [T/C] NM_207309 UAP1L1 EXON Missense_P373S exm801551 9 139974584 [T/C] NM_207309 UAP1L1 EXON Missense_R390W exm801564 9 139976450 [T/C] NM_207309 UAP1L1 EXON Synonymous_S455S exm2191023 9 139976458 [T/C] NM_207309 UAP1L1 EXON Missense_P458L exm801571 9 139977137 [G/C] NM_207309 UAP1L1 EXON Missense_L494V exm801582 9 139981477 [C/G] NM_016219,NR_045720,NR_045721 MAN1B1,MAN1B1,MAN1B1 EXON Missense_S9T,Silent,Silent exm801592 9 139981627 [A/G] NM_016219,NR_045720,NR_045721 MAN1B1,MAN1B1,MAN1B1 EXON Missense_N59S,Silent,Silent exm801597 9 139982579 [T/C] NM_016219,NR_045720,NR_045721 MAN1B1,MAN1B1,MAN1B1 EXON Missense_A91V,Silent,Silent exm801599 9 139982611 [A/C] NM_016219,NR_045720,NR_045721 MAN1B1,MAN1B1,MAN1B1 EXON Missense_I102L,Silent,Silent exm801600 9 139983329 [T/C] NM_016219,NR_045720,NR_045721 MAN1B1,MAN1B1,MAN1B1 EXON Missense_F113L,Silent,Silent exm801602 9 139983339 [A/G] NM_016219,NR_045720,NR_045721 MAN1B1,MAN1B1,MAN1B1 EXON Missense_E116G,Silent,Silent exm801604 9 139983395 [A/G] NM_016219,NR_045720,NR_045721 MAN1B1,MAN1B1,MAN1B1 EXON Missense_V135I,Silent,Silent exm801612 9 139990737 [T/C] NM_016219,NR_045720,NR_045721 MAN1B1,MAN1B1,MAN1B1 EXON Missense_P172S,Silent,Silent exm801615 9 139990813 [T/C] NM_016219,NR_045720,NR_045721 MAN1B1,MAN1B1,MAN1B1 EXON Missense_P197L,Silent,Silent exm801617 9 139990825 [T/C] NM_016219,NR_045720,NR_045721 MAN1B1,MAN1B1,MAN1B1 EXON Missense_P201L,Silent,Silent exm801622 9 139992294 [T/G] NM_016219,NR_045720,NR_045721 MAN1B1,MAN1B1,MAN1B1 EXON Missense_V212G,Silent,Silent exm801628 9 139992366 [T/C] NM_016219,NR_045720,NR_045721 MAN1B1,MAN1B1,MAN1B1 EXON Missense_P236L,Silent,Silent exm801636 9 139994211 [A/G] NM_016219,NR_045720,NR_045721 MAN1B1,MAN1B1,MAN1B1 EXON Missense_R265H,Silent,Silent exm801642 9 139994279 [A/G] NM_016219,NR_045720,NR_045721 MAN1B1,MAN1B1,MAN1B1 EXON Missense_G288S,Silent,Silent exm801645 9 139994298 [T/C] NM_016219,NR_045720,NR_045721 MAN1B1,MAN1B1,MAN1B1 EXON Missense_A294V,Silent,Silent exm801669 9 139996099 [A/G] NM_016219,NR_045720,NR_045721 MAN1B1,MAN1B1,MAN1B1 EXON Missense_R410H,Silent,Silent exm801708 9 140000619 [T/G] NM_016219,NR_045720,NR_045721 MAN1B1,MAN1B1,MAN1B1 EXON Missense_G433W,Silent,Silent exm801711 9 140000649 [A/G] NM_016219,NR_045720,NR_045721 MAN1B1,MAN1B1,MAN1B1 EXON Missense_I443V,Silent,Silent exm801716 9 140000751 [A/G] NM_016219,NR_045720,NR_045721 MAN1B1,MAN1B1,MAN1B1 EXON Missense_G477R,Silent,Silent exm801717 9 140000755 [A/G] NM_016219,NR_045720,NR_045721 MAN1B1,MAN1B1,MAN1B1 EXON Missense_K478R,Silent,Silent exm801718 9 140001157 [A/G] NM_016219,NR_045720,NR_045721 MAN1B1,MAN1B1,MAN1B1 EXON Missense_V488M,Silent,Silent exm801723 9 140001194 [A/G] NM_016219,NR_045720,NR_045721 MAN1B1,MAN1B1,MAN1B1 EXON Missense_R500Q,Silent,Silent exm801729 9 140001771 [A/G] NM_016219,NR_045720,NR_045721 MAN1B1,MAN1B1,MAN1B1 EXON Missense_M546V,Silent,Silent exm801742 9 140001888 [A/G] NM_016219,NR_045720,NR_045721 MAN1B1,MAN1B1,MAN1B1 EXON Missense_V585M,Silent,Silent exm2191153 9 140002934 [T/C] NM_016219,NR_045720,NR_045721 MAN1B1,MAN1B1,MAN1B1 EXON Missense_T664M,Silent,Silent exm2191154 9 140002963 [A/G] NM_016219,NR_045720,NR_045721 MAN1B1,MAN1B1,MAN1B1 EXON Missense_D674N,Silent,Silent exm801785 9 140005147 [A/G] NM_013379 DPP7 EXON Missense_R478C exm801790 9 140005197 [A/G] NM_013379 DPP7 EXON Missense_A461V exm801792 9 140005207 [T/C] NM_013379 DPP7 EXON Missense_V458M exm801805 9 140005383 [A/G] NM_013379 DPP7 EXON Missense_A431V exm801806 9 140005399 [A/G] NM_013379 DPP7 EXON Missense_R426W exm801808 9 140006153 [T/C] NM_013379 DPP7 EXON Missense_A421T exm801811 9 140006355 [T/C] NM_013379 DPP7 EXON Missense_D393N exm801813 9 140006378 [A/G] NM_013379 DPP7 EXON Missense_T385I exm801818 9 140006432 [A/G] NM_013379 DPP7 EXON Missense_M367T exm801840 9 140007217 [A/G] NM_013379 DPP7 EXON Missense_T304M exm801841 9 140007244 [T/C] NM_013379 DPP7 EXON Missense_R295Q exm801843 9 140007259 [T/G] NM_013379 DPP7 Silent exm2191184 9 140007492 [A/G] NM_013379 DPP7 EXON Synonymous_F261F exm801850 9 140007546 [G/C] NM_013379 DPP7 EXON Missense_F243L exm801862 9 140007817 [T/G] NM_013379 DPP7 EXON Missense_T206K exm801864 9 140007869 [T/C] NM_013379 DPP7 EXON Missense_V189I exm801870 9 140007915 [T/C] NM_013379 DPP7 EXON Missense_M173I exm801877 9 140008443 [A/G] NM_013379 DPP7 EXON Missense_S120F exm801887 9 140008750 [C/G] NM_013379 DPP7 EXON Missense_A89G exm801889 9 140008771 [T/C] NM_013379 DPP7 EXON Nonsense_W82X exm2259247 9 140034184 [T/C] NM_001185091,NM_001185090,NM_021569,NM_000832,NM_007327 GRIN1,GRIN1,GRIN1,GRIN1,GRIN1 EXON Synonymous_L82L,Synonymous_L82L,Synonymous_L82L,Synonymous_L82L,Synonymous_L82L exm801919 9 140043500 [A/G] NM_001185091,NM_001185090,NM_021569,NM_000832,NM_007327 GRIN1,GRIN1,GRIN1,GRIN1,GRIN1 EXON Missense_V225M,Missense_V225M,Missense_V204M,Missense_V204M,Missense_V204M exm801948 9 140055644 [G/C] NM_001185091,NM_001185090,NM_021569,NM_000832,NM_007327 GRIN1,GRIN1,GRIN1,GRIN1,GRIN1 EXON Missense_G466A,Missense_G466A,Missense_G445A,Missense_G445A,Missense_G445A exm802005 9 140063548 [A/G] NM_001013653 LRRC26 EXON Nonsense_Q255X exm802006 9 140063557 [A/G] NM_001013653 LRRC26 EXON Missense_H252Y exm802022 9 140063984 [T/C] NM_001013653 LRRC26 EXON Missense_T138A exm802050 9 140069821 [A/C] NM_013366 ANAPC2 EXON Missense_E708D exm802051 9 140069824 [T/C] NM_013366 ANAPC2 EXON Synonymous_E707E exm802052 9 140069828 [T/C] NM_013366 ANAPC2 EXON Missense_R706H exm802120 9 140077640 [T/C] NM_013366 ANAPC2 EXON Missense_R408H exm802150 9 140080740 [T/C] NM_013366 ANAPC2 EXON Missense_R270Q exm802151 9 140080741 [A/G] NM_013366 ANAPC2 EXON Missense_R270W exm802163 9 140082242 [A/G] NM_013366 ANAPC2 EXON Missense_T144I exm802168 9 140082356 [T/C] NM_013366 ANAPC2 EXON Missense_Q106R exm802173 9 140082480 [A/G] NM_013366 ANAPC2 EXON Missense_H65Y exm802180 9 140082920 [A/C] NM_013366 ANAPC2 EXON Missense_V22G exm802183 9 140082971 [A/G] NM_013366 ANAPC2 EXON Missense_V5A exm802224 9 140086761 [T/C] NM_001128228 TPRN EXON Missense_A675T exm802235 9 140086956 [A/G] NM_001128228 TPRN EXON Missense_T638M exm802236 9 140086963 [A/G] NM_001128228 TPRN EXON Missense_R636W exm802251 9 140087121 [T/C] NM_001128228 TPRN EXON Missense_K583R exm802255 9 140093452 [G/C] NM_001128228 TPRN EXON Missense_S571C exm802256 9 140093495 [T/C] NM_001128228 TPRN EXON Missense_G557S exm802258 9 140093509 [T/A] NM_001128228 TPRN EXON Missense_I552N exm802259 9 140093530 [T/C] NM_001128228 TPRN EXON Missense_R545H exm802260 9 140093531 [A/G] NM_001128228 TPRN EXON Missense_R545C exm802264 9 140093585 [A/G] NM_001128228 TPRN EXON Missense_R527W exm802265 9 140093591 [A/G] NM_001128228 TPRN EXON Missense_R525W exm802270 9 140093696 [T/C] NM_001128228 TPRN EXON Missense_V490M exm802279 9 140093828 [A/G] NM_001128228 TPRN EXON Missense_R446W exm802287 9 140093903 [A/G] NM_001128228 TPRN EXON Missense_P421S exm802288 9 140093905 [A/G] NM_001128228 TPRN EXON Missense_P420L exm802290 9 140093908 [A/G] NM_001128228 TPRN EXON Missense_P419L exm802293 9 140094026 [A/C] NM_001128228 TPRN EXON Missense_A380S exm802297 9 140094091 [A/G] NM_001128228 TPRN EXON Missense_L358P exm802299 9 140094199 [T/C] NM_001128228 TPRN EXON Missense_S322N exm802302 9 140094212 [A/G] NM_001128228 TPRN EXON Missense_R318W exm802303 9 140094273 [G/C] NM_001128228 TPRN EXON Missense_F297L exm802314 9 140099541 [G/C] NM_053045 TMEM203 EXON Missense_T109S exm802320 9 140099685 [G/C] NM_053045 TMEM203 EXON Missense_T61S exm802323 9 140099830 [T/C] NM_053045 TMEM203 EXON Missense_G13S exm802340 9 140108261 [A/G] NM_001144027,NM_014434,NM_001144028,NM_001144026 NDOR1,NDOR1,NDOR1,NDOR1 EXON Missense_R114Q,Missense_R114Q,Missense_R114Q,Missense_R114Q exm802349 9 140108448 [A/G] NM_001144027,NM_014434,NM_001144028,NM_001144026 NDOR1,NDOR1,NDOR1,NDOR1 EXON Silent,Missense_R147Q,Missense_R147Q,Missense_R147Q exm802366 9 140108794 [T/G] NM_001144027,NM_014434,NM_001144028,NM_001144026 NDOR1,NDOR1,NDOR1,NDOR1 EXON Missense_Q183H,Missense_Q217H,Missense_Q217H,Missense_Q217H exm802369 9 140108849 [T/G] NM_001144027,NM_014434,NM_001144028,NM_001144026 NDOR1,NDOR1,NDOR1,NDOR1 EXON Missense_L202V,Missense_L236V,Missense_L236V,Missense_L236V exm802377 9 140109081 [A/G] NM_001144027,NM_014434,NM_001144028,NM_001144026 NDOR1,NDOR1,NDOR1,NDOR1 EXON Missense_R227Q,Missense_R261Q,Missense_R261Q,Missense_R261Q exm802380 9 140109134 [T/C] NM_001144027,NM_014434,NM_001144028,NM_001144026 NDOR1,NDOR1,NDOR1,NDOR1 EXON Missense_R245W,Missense_R279W,Missense_R279W,Missense_R279W exm802382 9 140109141 [T/C] NM_001144027,NM_014434,NM_001144028,NM_001144026 NDOR1,NDOR1,NDOR1,NDOR1 EXON Missense_P247L,Missense_P281L,Missense_P281L,Missense_P281L exm802391 9 140109318 [T/A] NM_001144027,NM_014434,NM_001144028,NM_001144026 NDOR1,NDOR1,NDOR1,NDOR1 EXON Missense_I271F,Missense_I305F,Missense_I305F,Missense_I305F exm802400 9 140109385 [A/G] NM_001144027,NM_014434,NM_001144028,NM_001144026 NDOR1,NDOR1,NDOR1,NDOR1 EXON Missense_R293Q,Missense_R327Q,Missense_R327Q,Missense_R327Q exm802401 9 140109403 [T/C] NM_001144027,NM_014434,NM_001144028,NM_001144026 NDOR1,NDOR1,NDOR1,NDOR1 EXON Missense_F299S,Missense_F333S,Missense_F333S,Missense_F333S exm802404 9 140109453 [T/C] NM_001144027,NM_014434,NM_001144028,NM_001144026 NDOR1,NDOR1,NDOR1,NDOR1 EXON Missense_R316C,Missense_R350C,Missense_R350C,Missense_R350C exm802418 9 140109647 [T/C] NM_001144027,NM_014434,NM_001144028,NM_001144026 NDOR1,NDOR1,NDOR1,NDOR1 EXON Missense_S355L,Missense_S389L,Missense_S389L,Missense_S389L exm802420 9 140109655 [T/G] NM_001144027,NM_014434,NM_001144028,NM_001144026 NDOR1,NDOR1,NDOR1,NDOR1 Silent,Silent,Silent,Silent exm802423 9 140109926 [A/G] NM_001144027,NM_014434,NM_001144028,NM_001144026 NDOR1,NDOR1,NDOR1,NDOR1 EXON Missense_R380H,Missense_R414H,Missense_R407H,Missense_R414H exm802424 9 140109929 [A/G] NM_001144027,NM_014434,NM_001144028,NM_001144026 NDOR1,NDOR1,NDOR1,NDOR1 EXON Missense_R381Q,Missense_R415Q,Missense_R408Q,Missense_R415Q exm802431 9 140110233 [A/G] NM_001144027,NM_014434,NM_001144028,NM_001144026 NDOR1,NDOR1,NDOR1,NDOR1 EXON Missense_E437K,Missense_E471K,Missense_E464K,Missense_E471K exm802438 9 140110417 [A/G] NM_001144027,NM_014434,NM_001144028,NM_001144026 NDOR1,NDOR1,NDOR1,NDOR1 EXON Missense_E467G,Missense_E501G,Missense_E494G,Missense_E501G exm802440 9 140110429 [A/G] NM_001144027,NM_014434,NM_001144028,NM_001144026 NDOR1,NDOR1,NDOR1,NDOR1 EXON Missense_R471Q,Missense_R505Q,Missense_R498Q,Missense_R505Q exm802443 9 140110555 [A/G] NM_001144027,NM_014434,NM_001144028,NM_001144026 NDOR1,NDOR1,NDOR1,NDOR1 EXON Missense_V488I,Missense_V522I,Missense_V515I,Missense_V531I exm802449 9 140110727 [T/C] NM_001144027,NM_014434,NM_001144028,NM_001144026 NDOR1,NDOR1,NDOR1,NDOR1 EXON Missense_T510M,Synonymous_N551N,Synonymous_N544N,Synonymous_N560N exm802450 9 140110737 [A/G] NM_001144027,NM_014434,NM_001144028,NM_001144026 NDOR1,NDOR1,NDOR1,NDOR1 EXON Synonymous_P513P,Missense_M555V,Missense_M548V,Missense_M564V exm802451 9 140110746 [T/G] NM_001144027,NM_014434,NM_001144028,NM_001144026 NDOR1,NDOR1,NDOR1,NDOR1 EXON Synonymous_R516R,Missense_D558Y,Missense_D551Y,Missense_D567Y exm802452 9 140110748 [T/C] NM_001144027,NM_014434,NM_001144028,NM_001144026 NDOR1,NDOR1,NDOR1,NDOR1 EXON Missense_T517M,Synonymous_D558D,Synonymous_D551D,Synonymous_D567D exm802453 9 140110749 [A/G] NM_001144027,NM_014434,NM_001144028,NM_001144026 NDOR1,NDOR1,NDOR1,NDOR1 EXON Synonymous_T517T,Missense_V559I,Missense_V552I,Missense_V568I exm802454 9 140110754 [A/G] NM_001144027,NM_014434,NM_001144028,NM_001144026 NDOR1,NDOR1,NDOR1,NDOR1 EXON Missense_R519Q,Synonymous_S560S,Synonymous_S553S,Synonymous_S569S exm802457 9 140110806 [A/G] NM_001144027,NM_014434,NM_001144028,NM_001144026 NDOR1,NDOR1,NDOR1,NDOR1 EXON Silent,Missense_A578T,Missense_A571T,Missense_A587T exm2247863 9 140110809 [T/G] NM_001144027,NM_014434,NM_001144028,NM_001144026 NDOR1,NDOR1,NDOR1,NDOR1 EXON Silent,Missense_A579S,Missense_A572S,Missense_A588S exm2247864 9 140110822 [T/C] NM_001144027,NM_014434,NM_001144028,NM_001144026 NDOR1,NDOR1,NDOR1,NDOR1 EXON Silent,Missense_A583V,Missense_A576V,Missense_A592V exm802466 9 140114982 [G/C] NM_031297 RNF208 EXON Missense_G228A exm2247865 9 140115190 [T/C] NM_031297 RNF208 EXON Missense_V159M exm802474 9 140115264 [A/G] NM_031297 RNF208 EXON Missense_S134L exm802489 9 140115490 [T/C] NM_031297 RNF208 EXON Missense_T59A exm2276087 9 140115505 [A/G] NM_031297 RNF208 EXON Missense_P54S exm802494 9 140115571 [T/C] NM_031297 RNF208 EXON Missense_A32T exm802505 9 140120111 [T/C] NM_199001 C9orf169 EXON Missense_A13V exm802537 9 140127247 [A/G] NM_001177317,NM_001177316,NM_080877 SLC34A3,SLC34A3,SLC34A3 EXON Missense_G106R,Missense_G106R,Missense_G106R exm802538 9 140127251 [A/G] NM_001177317,NM_001177316,NM_080877 SLC34A3,SLC34A3,SLC34A3 EXON Missense_D107G,Missense_D107G,Missense_D107G exm802544 9 140127344 [T/C] NM_001177317,NM_001177316,NM_080877 SLC34A3,SLC34A3,SLC34A3 EXON Missense_S138F,Missense_S138F,Missense_S138F exm802545 9 140127379 [T/C] NM_001177317,NM_001177316,NM_080877 SLC34A3,SLC34A3,SLC34A3 EXON Synonymous_L150L,Synonymous_L150L,Synonymous_L150L exm802551 9 140127500 [A/G] NM_001177317,NM_001177316,NM_080877 SLC34A3,SLC34A3,SLC34A3 EXON Missense_V165I,Missense_V165I,Missense_V165I exm802552 9 140127503 [A/G] NM_001177317,NM_001177316,NM_080877 SLC34A3,SLC34A3,SLC34A3 EXON Missense_G166S,Missense_G166S,Missense_G166S exm802553 9 140127546 [C/G] NM_001177317,NM_001177316,NM_080877 SLC34A3,SLC34A3,SLC34A3 EXON Missense_G180A,Missense_G180A,Missense_G180A exm802555 9 140127675 [T/C] NM_001177317,NM_001177316,NM_080877 SLC34A3,SLC34A3,SLC34A3 EXON Missense_S192L,Missense_S192L,Missense_S192L exm802561 9 140127779 [A/G] NM_001177317,NM_001177316,NM_080877 SLC34A3,SLC34A3,SLC34A3 EXON Missense_A227T,Missense_A227T,Missense_A227T exm802566 9 140127809 [A/G] NM_001177317,NM_001177316,NM_080877 SLC34A3,SLC34A3,SLC34A3 EXON Missense_D237N,Missense_D237N,Missense_D237N exm802569 9 140127856 [A/G] NM_001177317,NM_001177316,NM_080877 SLC34A3,SLC34A3,SLC34A3 EXON Synonymous_Q252Q,Synonymous_Q252Q,Synonymous_Q252Q exm802572 9 140128085 [T/C] NM_001177317,NM_001177316,NM_080877 SLC34A3,SLC34A3,SLC34A3 EXON Synonymous_L253L,Synonymous_L253L,Synonymous_L253L exm802575 9 140128107 [A/G] NM_001177317,NM_001177316,NM_080877 SLC34A3,SLC34A3,SLC34A3 EXON Missense_S260N,Missense_S260N,Missense_S260N exm802576 9 140128109 [A/G] NM_001177317,NM_001177316,NM_080877 SLC34A3,SLC34A3,SLC34A3 EXON Missense_S261G,Missense_S261G,Missense_S261G exm802579 9 140128127 [A/C] NM_001177317,NM_001177316,NM_080877 SLC34A3,SLC34A3,SLC34A3 EXON Missense_T267P,Missense_T267P,Missense_T267P exm802583 9 140128164 [T/C] NM_001177317,NM_001177316,NM_080877 SLC34A3,SLC34A3,SLC34A3 EXON Missense_T279M,Missense_T279M,Missense_T279M exm802586 9 140128174 [A/G] NM_001177317,NM_001177316,NM_080877 SLC34A3,SLC34A3,SLC34A3 EXON Synonymous_P282P,Synonymous_P282P,Synonymous_P282P exm802590 9 140128564 [A/G] NM_001177317,NM_001177316,NM_080877 SLC34A3,SLC34A3,SLC34A3 EXON Missense_R310H,Missense_R310H,Missense_R310H exm802594 9 140128644 [A/G] NM_001177317,NM_001177316,NM_080877 SLC34A3,SLC34A3,SLC34A3 EXON Missense_G337S,Missense_G337S,Missense_G337S exm802600 9 140128693 [T/G] NM_001177317,NM_001177316,NM_080877 SLC34A3,SLC34A3,SLC34A3 EXON Missense_R353L,Missense_R353L,Missense_R353L exm802613 9 140128936 [A/G] NM_001177317,NM_001177316,NM_080877 SLC34A3,SLC34A3,SLC34A3 EXON Missense_A388T,Missense_A388T,Missense_A388T exm802647 9 140130521 [T/C] NM_001177317,NM_001177316,NM_080877 SLC34A3,SLC34A3,SLC34A3 EXON Missense_R485C,Missense_R485C,Missense_R485C exm802648 9 140130522 [A/G] NM_001177317,NM_001177316,NM_080877 SLC34A3,SLC34A3,SLC34A3 EXON Missense_R485H,Missense_R485H,Missense_R485H exm802649 9 140130530 [C/G] NM_001177317,NM_001177316,NM_080877 SLC34A3,SLC34A3,SLC34A3 EXON Missense_A488P,Missense_A488P,Missense_A488P exm802654 9 140130552 [G/C] NM_001177317,NM_001177316,NM_080877 SLC34A3,SLC34A3,SLC34A3 EXON Missense_G495A,Missense_G495A,Missense_G495A exm802666 9 140130678 [A/G] NM_001177317,NM_001177316,NM_080877 SLC34A3,SLC34A3,SLC34A3 EXON Missense_R537H,Missense_R537H,Missense_R537H exm802667 9 140130680 [T/C] NM_001177317,NM_001177316,NM_080877 SLC34A3,SLC34A3,SLC34A3 EXON Missense_R538W,Missense_R538W,Missense_R538W exm2191479 9 140138241 [T/C] NM_001001710 FAM166A Silent exm802786 9 140138623 [T/C] NM_001001710 FAM166A EXON Missense_A289T exm802789 9 140138656 [T/C] NM_001001710 FAM166A EXON Missense_G278S exm802792 9 140138671 [T/C] NM_001001710 FAM166A EXON Missense_I273V exm802793 9 140138702 [G/C] NM_001001710 FAM166A EXON Missense_K262N exm802797 9 140138737 [C/G] NM_001001710 FAM166A EXON Missense_L251V exm802808 9 140139124 [T/C] NM_001001710 FAM166A EXON Missense_M239I exm802812 9 140139138 [A/G] NM_001001710 FAM166A EXON Nonsense_R235X exm802821 9 140139560 [G/C] NM_001001710 FAM166A EXON Missense_I211M exm2191488 9 140139591 [T/C] NM_001001710 FAM166A EXON Missense_R201Q exm802831 9 140139666 [T/C] NM_001001710 FAM166A EXON Missense_Y176C exm802832 9 140139757 [A/G] NM_001001710 FAM166A Silent exm802834 9 140139794 [T/C] NM_001001710 FAM166A EXON Missense_A163T exm802844 9 140139868 [A/G] NM_001001710 FAM166A EXON Missense_P138L exm802846 9 140139877 [A/G] NM_001001710 FAM166A EXON Missense_P135L exm802848 9 140139884 [T/C] NM_001001710 FAM166A EXON Missense_D133N exm2191505 9 140140000 [A/G] NM_001001710 FAM166A EXON Missense_P94L exm2191506 9 140140008 [A/G] NM_001001710 FAM166A EXON Synonymous_S91S exm802857 9 140140111 [A/G] NM_001001710 FAM166A EXON Missense_P84L exm802858 9 140140117 [A/G] NM_001001710 FAM166A EXON Missense_T82M exm802864 9 140140177 [A/G] NM_001001710 FAM166A EXON Missense_P62L exm802894 9 140146219 [T/C] NR_038389,NM_001004353,NM_001256700,NR_046339,NR_046340,NM_001256701,NM_001256699 LOC100129722,C9orf173,C9orf173,C9orf173,C9orf173,C9orf173,C9orf173 EXON Silent,Missense_P47L,Missense_P47L,Silent,Silent,Missense_P47L,Missense_P47L exm802899 9 140146242 [A/G] NR_038389,NM_001004353,NM_001256700,NR_046339,NR_046340,NM_001256701,NM_001256699 LOC100129722,C9orf173,C9orf173,C9orf173,C9orf173,C9orf173,C9orf173 EXON Silent,Missense_E55K,Missense_E55K,Silent,Silent,Missense_E55K,Missense_E55K exm802901 9 140146315 [T/C] NR_038389,NM_001004353,NM_001256700,NR_046339,NR_046340,NM_001256701,NM_001256699 LOC100129722,C9orf173,C9orf173,C9orf173,C9orf173,C9orf173,C9orf173 EXON Silent,Missense_L79P,Missense_L79P,Silent,Silent,Missense_L79P,Missense_L79P exm802906 9 140146525 [T/C] NR_038389,NM_001004353,NM_001256700,NR_046339,NR_046340,NM_001256701,NM_001256699 LOC100129722,C9orf173,C9orf173,C9orf173,C9orf173,C9orf173,C9orf173 EXON Silent,Missense_P114L,Missense_P114L,Silent,Silent,Missense_P114L,Missense_P114L exm802910 9 140146560 [A/G] NR_038389,NM_001004353,NM_001256700,NR_046339,NR_046340,NM_001256701,NM_001256699 LOC100129722,C9orf173,C9orf173,C9orf173,C9orf173,C9orf173,C9orf173 EXON Silent,Missense_S126G,Missense_S126G,Silent,Silent,Missense_S126G,Missense_S126G exm802916 9 140146901 [A/G] NR_038389,NM_001004353,NM_001256700,NR_046339,NR_046340,NM_001256701,NM_001256699 LOC100129722,C9orf173,C9orf173,C9orf173,C9orf173,C9orf173,C9orf173 EXON Silent,Missense_R139H,Missense_R139H,Silent,Silent,Missense_R139H,Missense_R139H exm802919 9 140146952 [A/G] NR_038389,NM_001004353,NM_001256700,NR_046339,NR_046340,NM_001256701,NM_001256699 LOC100129722,C9orf173,C9orf173,C9orf173,C9orf173,C9orf173,C9orf173 EXON Silent,Missense_K156R,Missense_K156R,Silent,Silent,Missense_K156R,Missense_K156R exm802932 9 140147259 [A/G] NR_038389,NM_001004353,NM_001256700,NR_046339,NR_046340,NM_001256701,NM_001256699 LOC100129722,C9orf173,C9orf173,C9orf173,C9orf173,C9orf173,C9orf173 EXON Silent,Missense_Q213R,Silent,Silent,Silent,Silent,Missense_Q213R exm802933 9 140147273 [T/C] NR_038389,NM_001004353,NM_001256700,NR_046339,NR_046340,NM_001256701,NM_001256699 LOC100129722,C9orf173,C9orf173,C9orf173,C9orf173,C9orf173,C9orf173 EXON Silent,Missense_L218F,Silent,Silent,Silent,Silent,Missense_L218F exm802936 9 140147585 [A/C] NR_038389,NM_001004353,NM_001256700,NR_046339,NR_046340,NM_001256701,NM_001256699 LOC100129722,C9orf173,C9orf173,C9orf173,C9orf173,C9orf173,C9orf173 EXON Silent,Missense_A272D,Missense_S222R,Silent,Silent,Missense_A217D,Missense_S277R exm802939 9 140147665 [T/C] NR_038389,NM_001004353,NM_001256700,NR_046339,NR_046340,NM_001256701,NM_001256699 LOC100129722,C9orf173,C9orf173,C9orf173,C9orf173,C9orf173,C9orf173 EXON Silent,Missense_R299C,Missense_A249V,Silent,Silent,Missense_R244C,Missense_A304V exm802940 9 140147681 [G/C] NR_038389,NM_001004353,NM_001256700,NR_046339,NR_046340,NM_001256701,NM_001256699 LOC100129722,C9orf173,C9orf173,C9orf173,C9orf173,C9orf173,C9orf173 EXON Silent,Missense_P304R,Synonymous_P254P,Silent,Silent,Missense_P249R,Synonymous_P309P exm802941 9 140147690 [T/C] NR_038389,NM_001004353,NM_001256700,NR_046339,NR_046340,NM_001256701,NM_001256699 LOC100129722,C9orf173,C9orf173,C9orf173,C9orf173,C9orf173,C9orf173 EXON Silent,Missense_T307M,Synonymous_H257H,Silent,Silent,Missense_T252M,Synonymous_H312H exm802989 9 140158742 [A/G] NM_015456 NELFB EXON Missense_S277G exm802998 9 140160858 [G/C] NM_015456 NELFB EXON Missense_V359L exm2191571 9 140161526 [A/G] NM_015456 NELFB EXON Missense_E409G exm2247881 9 140166981 [A/G] NM_015456 NELFB EXON Missense_A504T exm803024 9 140166982 [T/C] NM_015456 NELFB EXON Missense_A504V exm803033 9 140167307 [A/G] NM_015456 NELFB EXON Missense_S557N exm803057 9 140173637 [G/C] NM_017723 TOR4A EXON Missense_A166P exm803084 9 140174272 [C/G] NM_017723 TOR4A EXON Missense_D377E exm803087 9 140174327 [A/G] NM_017723 TOR4A EXON Missense_A396T exm2259250 9 140196315 [T/C] NM_001004354 NRARP EXON Synonymous_V22V exm803107 9 140196315 [T/C] NM_001004354 NRARP EXON Synonymous_V22V exm803109 9 140196334 [A/C] NM_001004354 NRARP EXON Missense_R16L exm803114 9 140201415 [G/C] NM_017820 EXD3 EXON Missense_S873T exm803115 9 140201433 [A/G] NM_017820 EXD3 EXON Missense_P867L exm803119 9 140201476 [A/G] NM_017820 EXD3 EXON Nonsense_R853X exm803122 9 140201494 [A/G] NM_017820 EXD3 EXON Missense_R847C exm803127 9 140201614 [T/C] NM_017820 EXD3 EXON Missense_D807N exm803129 9 140201671 [A/G] NM_017820 EXD3 EXON Missense_P788S exm803142 9 140218212 [A/G] NM_017820 EXD3 EXON Missense_R717C exm803145 9 140218283 [T/C] NM_017820 EXD3 EXON Missense_R693H exm803152 9 140242525 [T/C] NM_017820 EXD3 EXON Missense_E666K exm803154 9 140242536 [T/C] NM_017820 EXD3 EXON Missense_R662H exm803156 9 140242564 [A/G] NM_017820 EXD3 EXON Missense_R653C exm803166 9 140242644 [A/G] NM_017820 EXD3 EXON Missense_P626L exm803167 9 140242660 [T/C] NM_017820 EXD3 EXON Missense_A621T exm803168 9 140242692 [T/C] NM_017820 EXD3 Silent exm803169 9 140243566 [T/C] NM_017820 EXD3 EXON Missense_R609K exm803170 9 140243573 [T/C] NM_017820 EXD3 EXON Missense_A607T exm803172 9 140243578 [A/G] NM_017820 EXD3 EXON Missense_P605L exm803180 9 140243678 [A/G] NM_017820 EXD3 EXON Missense_R572C exm803187 9 140243844 [T/C] NM_017820 EXD3 EXON Missense_C545Y exm803188 9 140243868 [A/G] NM_017820 EXD3 EXON Missense_S537F exm803189 9 140243880 [A/G] NM_017820 EXD3 EXON Missense_T533M exm803192 9 140243973 [A/G] NM_017820 EXD3 EXON Missense_A502V exm803195 9 140245516 [T/C] NM_017820 EXD3 EXON Missense_M490V exm803205 9 140245853 [A/G] NM_017820 EXD3 EXON Missense_S434L exm803206 9 140245866 [T/C] NM_017820 EXD3 EXON Missense_V430I exm803208 9 140245893 [T/C] NM_017820 EXD3 EXON Missense_V421M exm803211 9 140245956 [T/C] NM_017820 EXD3 EXON Missense_V400M exm803216 9 140246574 [T/C] NM_017820 EXD3 EXON Missense_V373I exm803217 9 140246606 [T/C] NM_017820 EXD3 EXON Missense_R362H exm803225 9 140247103 [T/C] NM_017820 EXD3 EXON Missense_V336M exm803227 9 140247124 [A/G] NM_017820 EXD3 EXON Missense_R329W exm803228 9 140247143 [T/G] NM_017820 EXD3 EXON Missense_E322D exm803232 9 140247229 [T/C] NM_017820 EXD3 EXON Missense_G294R exm803238 9 140248802 [T/C] NM_017820 EXD3 EXON Missense_D287N exm803244 9 140249180 [T/C] NM_017820 EXD3 EXON Missense_R268Q exm803246 9 140249189 [A/G] NM_017820 EXD3 EXON Missense_A265V exm2191648 9 140249195 [T/C] NM_017820 EXD3 EXON Missense_R263H exm803247 9 140249196 [A/G] NM_017820 EXD3 EXON Missense_R263C exm803249 9 140249211 [T/C] NM_017820 EXD3 EXON Missense_A258T exm803251 9 140250729 [T/C] NM_017820 EXD3 EXON Missense_V250I exm803252 9 140250732 [T/C] NM_017820 EXD3 EXON Missense_G249S exm803255 9 140250738 [A/G] NM_017820 EXD3 EXON Missense_R247W exm803256 9 140250749 [T/C] NM_017820 EXD3 EXON Missense_R243H exm2191652 9 140250750 [A/G] NM_017820 EXD3 EXON Missense_R243C exm803264 9 140250818 [T/C] NM_017820 EXD3 EXON Missense_R220Q exm803266 9 140260970 [T/C] NM_017820 EXD3 EXON Missense_G211S exm803274 9 140262426 [T/C] NM_017820 EXD3 EXON Missense_A160T exm803284 9 140267455 [A/C] NM_017820 EXD3 EXON Missense_A122S exm803286 9 140267490 [A/G] NM_017820 EXD3 EXON Missense_A110V exm803290 9 140267503 [C/G] NM_017820 EXD3 EXON Missense_L106V exm803293 9 140267930 [T/G] NM_017820 EXD3 EXON Missense_S81Y exm803299 9 140267982 [T/C] NM_017820 EXD3 EXON Missense_E64K exm803307 9 140277794 [T/C] NM_017820 EXD3 EXON Missense_T31A exm803308 9 140277826 [T/C] NM_017820 EXD3 EXON Missense_R20Q exm803310 9 140289755 [G/C] NM_017820 EXD3 EXON Missense_G19R exm2191668 9 140289761 [A/G] NM_017820 EXD3 EXON Missense_R17C exm803312 9 140289766 [T/C] NM_017820 EXD3 EXON Missense_R15H exm803315 9 140289791 [T/C] NM_017820 EXD3 EXON Missense_A7T exm803327 9 140320715 [A/G] NM_001256068,NM_006647,NM_001256067 NOXA1,NOXA1,NOXA1 EXON Missense_V65M,Missense_V65M,Missense_V65M exm803332 9 140322520 [T/G] NM_001256068,NM_006647,NM_001256067 NOXA1,NOXA1,NOXA1 EXON Missense_L99R,Missense_L99R,Missense_L99R exm803337 9 140322570 [T/C] NM_001256068,NM_006647,NM_001256067 NOXA1,NOXA1,NOXA1 EXON Missense_R116W,Missense_R116W,Missense_R116W exm803341 9 140323373 [A/C] NM_001256068,NM_006647,NM_001256067 NOXA1,NOXA1,NOXA1 EXON Missense_L137I,Missense_L137I,Missense_L137I exm803370 9 140325554 [T/G] NM_001256068,NM_006647,NM_001256067 NOXA1,NOXA1,NOXA1 Silent,Silent,Silent exm803386 9 140327663 [T/C] NM_001256068,NM_006647,NM_001256067 NOXA1,NOXA1,NOXA1 EXON Missense_P230L,Missense_P286L,Missense_P286L exm803403 9 140328047 [T/A] NM_001256068,NM_006647,NM_001256067 NOXA1,NOXA1,NOXA1 EXON Missense_L295H,Missense_L351H,Missense_L351H exm803404 9 140328216 [G/C] NM_001256068,NM_006647,NM_001256067 NOXA1,NOXA1,NOXA1 EXON Missense_G304A,Missense_G360A,Missense_G360A exm803411 9 140328498 [T/C] NM_001256068,NM_006647,NM_001256067 NOXA1,NOXA1,NOXA1 EXON Nonsense_R365X,Nonsense_R421X,Nonsense_R421X exm803424 9 140328750 [A/G] NM_001256068,NM_006647,NM_001256067 NOXA1,NOXA1,NOXA1 EXON Missense_G408S,Missense_G464S,Missense_G457S exm803425 9 140328756 [T/C] NM_001256068,NM_006647,NM_001256067 NOXA1,NOXA1,NOXA1 EXON Missense_R410W,Missense_R466W,Missense_R459W exm803427 9 140328778 [A/G] NM_001256068,NM_006647,NM_001256067 NOXA1,NOXA1,NOXA1 EXON Missense_R417H,Missense_R473H,Missense_R466H exm803429 9 140328793 [A/G] NM_001256068,NM_006647,NM_001256067 NOXA1,NOXA1,NOXA1 EXON Missense_Q422R,Missense_Q478R,Missense_Q471R exm803433 9 140329373 [T/C] NM_198585,NM_001033113 ENTPD8,ENTPD8 EXON Missense_Q457R,Missense_Q494R exm803444 9 140329482 [A/C] NM_198585,NM_001033113 ENTPD8,ENTPD8 EXON Missense_A421S,Missense_A458S exm803454 9 140329670 [T/C] NM_198585,NM_001033113 ENTPD8,ENTPD8 EXON Missense_E391K,Missense_E428K exm803456 9 140329686 [A/C] NM_198585,NM_001033113 ENTPD8,ENTPD8 EXON Missense_E385D,Missense_E422D exm2247890 9 140329691 [A/C] NM_198585,NM_001033113 ENTPD8,ENTPD8 EXON Nonsense_E384X,Nonsense_E421X exm803457 9 140329693 [A/C] NM_198585,NM_001033113 ENTPD8,ENTPD8 EXON Missense_S383I,Missense_S420I exm803463 9 140330203 [T/C] NM_198585,NM_001033113 ENTPD8,ENTPD8 EXON Silent,Missense_I377V exm803468 9 140330259 [A/G] NM_198585,NM_001033113 ENTPD8,ENTPD8 EXON Silent,Missense_T358I exm803475 9 140330497 [T/C] NM_198585,NM_001033113 ENTPD8,ENTPD8 EXON Missense_V340I,Missense_V340I exm803478 9 140330566 [T/C] NM_198585,NM_001033113 ENTPD8,ENTPD8 EXON Missense_V317I,Missense_V317I exm803485 9 140330681 [T/G] NM_198585,NM_001033113 ENTPD8,ENTPD8 EXON Nonsense_Y278X,Nonsense_Y278X exm803500 9 140331113 [T/C] NM_198585,NM_001033113 ENTPD8,ENTPD8 EXON Missense_V216M,Missense_V216M exm803511 9 140331374 [T/C] NM_198585,NM_001033113 ENTPD8,ENTPD8 EXON Missense_E168K,Missense_E168K exm803525 9 140331755 [C/G] NM_198585,NM_001033113 ENTPD8,ENTPD8 EXON Missense_G84A,Missense_G84A exm2259251 9 140332474 [T/C] NM_198585,NM_001033113 ENTPD8,ENTPD8 EXON Synonymous_A63A,Synonymous_A63A exm803533 9 140332478 [A/G] NM_198585,NM_001033113 ENTPD8,ENTPD8 EXON Missense_L62P,Missense_L62P exm803535 9 140332502 [A/G] NM_198585,NM_001033113 ENTPD8,ENTPD8 EXON Missense_T54M,Missense_T54M exm803543 9 140332724 [T/C] NM_198585,NM_001033113 ENTPD8,ENTPD8 EXON Missense_R5Q,Missense_R5Q exm803569 9 140346875 [T/C] NM_001130969,NM_001130970,NM_015537,NM_001178064,NM_001130971 NSMF,NSMF,NSMF,NSMF,NSMF EXON Missense_R393K,Missense_R370K,Missense_R391K,Missense_R363K,Missense_R368K exm803587 9 140348196 [A/G] NM_001130969,NM_001130970,NM_015537,NM_001178064,NM_001130971 NSMF,NSMF,NSMF,NSMF,NSMF EXON Synonymous_H303H,Synonymous_H280H,Synonymous_H301H,Silent,Synonymous_H278H exm803590 9 140349509 [T/C] NM_001130969,NM_001130970,NM_015537,NM_001178064,NM_001130971 NSMF,NSMF,NSMF,NSMF,NSMF Silent,Silent,Silent,Silent,Silent exm803592 9 140349707 [T/C] NM_001130969,NM_001130970,NM_015537,NM_001178064,NM_001130971 NSMF,NSMF,NSMF,NSMF,NSMF EXON Missense_A255T,Silent,Missense_A253T,Missense_A255T,Silent exm803600 9 140350937 [A/G] NM_001130969,NM_001130970,NM_015537,NM_001178064,NM_001130971 NSMF,NSMF,NSMF,NSMF,NSMF EXON Synonymous_D210D,Synonymous_D210D,Synonymous_D210D,Synonymous_D210D,Synonymous_D210D exm803613 9 140352207 [T/C] NM_001130969,NM_001130970,NM_015537,NM_001178064,NM_001130971 NSMF,NSMF,NSMF,NSMF,NSMF EXON Missense_G94S,Missense_G94S,Missense_G94S,Missense_G94S,Missense_G94S exm803640 9 140355188 [A/G] NM_152286,NM_001098537 PNPLA7,PNPLA7 EXON Synonymous_D1256D,Synonymous_D1281D exm803644 9 140356012 [A/G] NM_152286,NM_001098537 PNPLA7,PNPLA7 EXON Missense_P1248S,Missense_P1273S exm803661 9 140356680 [C/G] NM_152286,NM_001098537 PNPLA7,PNPLA7 EXON Missense_P1174R,Missense_P1199R exm803663 9 140356687 [A/G] NM_152286,NM_001098537 PNPLA7,PNPLA7 EXON Missense_R1172C,Missense_R1197C exm803671 9 140357162 [T/C] NM_152286,NM_001098537 PNPLA7,PNPLA7 EXON Nonsense_W1131X,Nonsense_W1156X exm803673 9 140357186 [T/C] NM_152286,NM_001098537 PNPLA7,PNPLA7 EXON Missense_G1123E,Missense_G1148E exm803681 9 140357909 [T/C] NM_152286,NM_001098537 PNPLA7,PNPLA7 EXON Missense_G1076R,Missense_G1101R exm2191796 9 140357963 [T/G] NM_152286,NM_001098537 PNPLA7,PNPLA7 EXON Missense_R1058S,Missense_R1083S exm803686 9 140357972 [A/G] NM_152286,NM_001098537 PNPLA7,PNPLA7 EXON Missense_W1055R,Missense_W1080R exm803689 9 140358581 [T/C] NM_152286,NM_001098537 PNPLA7,PNPLA7 EXON Missense_D1050N,Missense_D1075N exm803700 9 140358896 [A/T] NM_152286,NM_001098537 PNPLA7,PNPLA7 EXON Missense_L993M,Missense_L1018M exm803701 9 140358901 [A/G] NM_152286,NM_001098537 PNPLA7,PNPLA7 EXON Missense_T991M,Missense_T1016M exm2274388 9 140361788 [T/C] NM_152286,NM_001098537 PNPLA7,PNPLA7 EXON Missense_R982Q,Missense_R1007Q exm803714 9 140372501 [G/C] NM_152286,NM_001098537 PNPLA7,PNPLA7 EXON Missense_G931A,Missense_G956A exm803717 9 140372565 [A/G] NM_152286,NM_001098537 PNPLA7,PNPLA7 EXON Nonsense_R910X,Nonsense_R935X exm803718 9 140372570 [A/G] NM_152286,NM_001098537 PNPLA7,PNPLA7 EXON Missense_P908L,Missense_P933L exm803720 9 140372588 [T/C] NM_152286,NM_001098537 PNPLA7,PNPLA7 EXON Missense_H902R,Missense_H927R exm2191813 9 140373539 [T/C] NM_152286,NM_001098537 PNPLA7,PNPLA7 EXON Missense_R886H,Missense_R911H exm803738 9 140374799 [T/C] NM_152286,NM_001098537 PNPLA7,PNPLA7 EXON Missense_V824M,Missense_V849M exm803742 9 140374826 [T/C] NM_152286,NM_001098537 PNPLA7,PNPLA7 EXON Missense_V815M,Missense_V840M exm803744 9 140374861 [A/G] NM_152286,NM_001098537 PNPLA7,PNPLA7 EXON Missense_V803A,Missense_V828A exm803747 9 140374931 [T/C] NM_152286,NM_001098537 PNPLA7,PNPLA7 EXON Missense_V780I,Missense_V805I exm803760 9 140379078 [T/C] NM_152286,NM_001098537 PNPLA7,PNPLA7 EXON Missense_A745T,Missense_A770T exm803761 9 140379101 [A/T] NM_152286,NM_001098537 PNPLA7,PNPLA7 EXON Missense_V737E,Missense_V762E exm2247897 9 140387525 [A/G] NM_152286,NM_001098537 PNPLA7,PNPLA7 EXON Missense_R688W,Missense_R713W exm803780 9 140391659 [A/G] NM_152286,NM_001098537 PNPLA7,PNPLA7 EXON Nonsense_R640X,Nonsense_R665X exm2247898 9 140391722 [T/C] NM_152286,NM_001098537 PNPLA7,PNPLA7 EXON Missense_G619S,Missense_G644S exm803785 9 140391737 [A/G] NM_152286,NM_001098537 PNPLA7,PNPLA7 EXON Missense_Y614H,Missense_Y639H exm803786 9 140391739 [A/G] NM_152286,NM_001098537 PNPLA7,PNPLA7 EXON Missense_T613M,Missense_T638M exm803790 9 140392579 [A/G] NM_152286,NM_001098537 PNPLA7,PNPLA7 EXON Nonsense_R601X,Nonsense_R626X exm2191847 9 140392623 [T/C] NM_152286,NM_001098537 PNPLA7,PNPLA7 EXON Missense_R586Q,Missense_R611Q exm803796 9 140392645 [T/C] NM_152286,NM_001098537 PNPLA7,PNPLA7 EXON Missense_K579E,Missense_K604E exm803797 9 140392656 [T/C] NM_152286,NM_001098537 PNPLA7,PNPLA7 EXON Missense_H575R,Missense_H600R exm803802 9 140392689 [T/C] NM_152286,NM_001098537 PNPLA7,PNPLA7 EXON Missense_R564Q,Missense_R589Q exm803811 9 140395219 [T/C] NM_152286,NM_001098537 PNPLA7,PNPLA7 EXON Missense_G536R,Missense_G561R exm803837 9 140396157 [T/C] NM_152286,NM_001098537 PNPLA7,PNPLA7 EXON Missense_R474Q,Missense_R499Q exm803853 9 140400464 [T/C] NM_152286,NM_001098537 PNPLA7,PNPLA7 EXON Missense_E408K,Missense_E433K exm803854 9 140400473 [C/G] NM_152286,NM_001098537 PNPLA7,PNPLA7 EXON Missense_H405D,Missense_H430D exm803858 9 140409842 [A/G] NM_152286,NM_001098537 PNPLA7,PNPLA7 EXON Missense_S380L,Missense_S405L exm803861 9 140409877 [A/C] NM_152286,NM_001098537 PNPLA7,PNPLA7 EXON Missense_E368D,Missense_E393D exm803862 9 140409882 [T/C] NM_152286,NM_001098537 PNPLA7,PNPLA7 EXON Missense_E367K,Missense_E392K exm803863 9 140409891 [G/C] NM_152286,NM_001098537 PNPLA7,PNPLA7 EXON Missense_Q364E,Missense_Q389E exm803864 9 140409908 [A/G] NM_152286,NM_001098537 PNPLA7,PNPLA7 EXON Missense_A358V,Missense_A383V exm803874 9 140414410 [T/C] NM_152286,NM_001098537 PNPLA7,PNPLA7 EXON Missense_R323Q,Missense_R348Q exm803875 9 140414411 [A/G] NM_152286,NM_001098537 PNPLA7,PNPLA7 EXON Missense_R323W,Missense_R348W exm803878 9 140414461 [A/C] NM_152286,NM_001098537 PNPLA7,PNPLA7 EXON Missense_S306I,Missense_S331I exm803880 9 140414474 [T/C] NM_152286,NM_001098537 PNPLA7,PNPLA7 EXON Missense_V302M,Missense_V327M exm803885 9 140416113 [A/C] NM_152286,NM_001098537 PNPLA7,PNPLA7 EXON Missense_G286V,Missense_G311V exm803891 9 140417222 [T/C] NM_152286,NM_001098537 PNPLA7,PNPLA7 EXON Missense_V254I,Missense_V279I exm803893 9 140417248 [T/C] NM_152286,NM_001098537 PNPLA7,PNPLA7 EXON Missense_R245Q,Missense_R270Q exm803899 9 140417275 [T/C] NM_152286,NM_001098537 PNPLA7,PNPLA7 EXON Missense_R236H,Missense_R261H exm803900 9 140417276 [A/G] NM_152286,NM_001098537 PNPLA7,PNPLA7 EXON Missense_R236C,Missense_R261C exm803901 9 140417279 [T/C] NM_152286,NM_001098537 PNPLA7,PNPLA7 EXON Missense_V235I,Missense_V260I exm2247901 9 140435094 [A/G] NM_152286,NM_001098537 PNPLA7,PNPLA7 EXON Synonymous_T224T,Synonymous_T249T exm803907 9 140435171 [T/C] NM_152286,NM_001098537 PNPLA7,PNPLA7 EXON Missense_G199S,Missense_G224S exm2247903 9 140437894 [T/C] NM_152286,NM_001098537 PNPLA7,PNPLA7 EXON Missense_K141E,Missense_K166E exm803923 9 140437936 [T/C] NM_152286,NM_001098537 PNPLA7,PNPLA7 EXON Missense_V127M,Missense_V152M exm803930 9 140438024 [A/C] NM_152286,NM_001098537 PNPLA7,PNPLA7 EXON Missense_R97S,Missense_R122S exm803938 9 140441299 [A/G] NM_152286,NM_001098537 PNPLA7,PNPLA7 EXON Missense_R61W,Missense_R86W exm803939 9 140441302 [A/C] NM_152286,NM_001098537 PNPLA7,PNPLA7 EXON Missense_G60C,Missense_G85C exm803949 9 140441826 [T/G] NM_152286,NM_001098537 PNPLA7,PNPLA7 EXON Missense_A18D,Missense_A43D exm803952 9 140442053 [T/C] NM_152286,NM_001098537 PNPLA7,PNPLA7 EXON Silent,Missense_G30D exm803963 9 140446667 [T/C] NM_032477 MRPL41 EXON Missense_T45I exm803975 9 140446879 [A/G] NM_032477 MRPL41 EXON Missense_K116E exm803991 9 140449959 [A/G] NM_138778 WDR85 EXON Missense_T364M exm803993 9 140449965 [T/G] NM_138778 WDR85 EXON Missense_T362N exm803996 9 140450001 [T/C] NM_138778 WDR85 EXON Missense_R350Q exm803997 9 140450014 [A/G] NM_138778 WDR85 EXON Missense_R346C exm804000 9 140450082 [A/G] NM_138778 WDR85 EXON Missense_T323M exm2191927 9 140458943 [A/G] NM_138778 WDR85 EXON Missense_L298F exm804009 9 140459011 [A/G] NM_138778 WDR85 EXON Missense_P275L exm2191930 9 140459369 [T/C] NM_138778 WDR85 EXON Missense_R251Q exm804020 9 140459562 [T/C] NM_138778 WDR85 EXON Missense_G229S exm804028 9 140468727 [T/C] NM_138778 WDR85 EXON Nonsense_W191X exm804033 9 140468828 [T/C] NM_138778 WDR85 EXON Missense_G158R exm804040 9 140470597 [T/G] NM_138778 WDR85 EXON Missense_H104N exm804045 9 140472016 [A/G] NM_138778 WDR85 EXON Missense_R65C exm804059 9 140477032 [T/C] NM_138462 ZMYND19 EXON Missense_K216R exm2274389 9 140507366 [T/C] NM_152285 ARRDC1 EXON Missense_I46T exm804107 9 140507422 [A/G] NM_152285 ARRDC1 EXON Missense_G65S exm804113 9 140507913 [T/G] NM_152285 ARRDC1 EXON Synonymous_G77G exm804121 9 140508136 [T/C] NM_152285 ARRDC1 EXON Missense_T117M exm804135 9 140508600 [C/G] NM_152285 ARRDC1 EXON Missense_Q184H exm804154 9 140508862 [T/G] NM_152285 ARRDC1 EXON Missense_V244L exm804162 9 140509075 [A/C] NM_152285 ARRDC1 EXON Missense_N287T exm804164 9 140509096 [A/G] NM_152285 ARRDC1 EXON Missense_R294Q exm804172 9 140509209 [A/G] NM_152285 ARRDC1 EXON Missense_V332I exm804173 9 140509234 [C/G] NM_152285 ARRDC1 EXON Missense_S340W exm804174 9 140509239 [T/C] NM_152285 ARRDC1 EXON Missense_R342W exm804179 9 140509302 [T/G] NM_152285 ARRDC1 EXON Missense_G363C exm804183 9 140509351 [A/G] NM_152285 ARRDC1 EXON Missense_G379D exm804185 9 140509398 [A/G] NM_152285 ARRDC1 EXON Missense_T395A exm2259253 9 140509554 [T/C] NM_152285 ARRDC1 EXON Synonymous_C422C exm804207 9 140510177 [T/C] NM_032937 C9orf37 EXON Missense_A159T exm804237 9 140605429 [T/C] NM_001145527,NM_024757 EHMT1,EHMT1 EXON Missense_A11V,Missense_A11V exm804244 9 140611120 [G/C] NM_001145527,NM_024757 EHMT1,EHMT1 EXON Missense_A43G,Missense_A43G exm804248 9 140611140 [A/G] NM_001145527,NM_024757 EHMT1,EHMT1 EXON Missense_A50T,Missense_A50T exm804251 9 140611146 [A/G] NM_001145527,NM_024757 EHMT1,EHMT1 EXON Missense_G52S,Missense_G52S exm804260 9 140611243 [A/G] NM_001145527,NM_024757 EHMT1,EHMT1 EXON Missense_G84D,Missense_G84D exm804261 9 140611263 [T/A] NM_001145527,NM_024757 EHMT1,EHMT1 EXON Missense_I91L,Missense_I91L exm804264 9 140611303 [T/C] NM_001145527,NM_024757 EHMT1,EHMT1 EXON Missense_A104V,Missense_A104V exm804265 9 140611308 [G/C] NM_001145527,NM_024757 EHMT1,EHMT1 EXON Missense_Q106E,Missense_Q106E exm804266 9 140611317 [A/G] NM_001145527,NM_024757 EHMT1,EHMT1 EXON Missense_V109I,Missense_V109I exm804274 9 140611397 [T/G] NM_001145527,NM_024757 EHMT1,EHMT1 EXON Missense_Q135H,Missense_Q135H exm804277 9 140611429 [T/C] NM_001145527,NM_024757 EHMT1,EHMT1 EXON Missense_S146L,Missense_S146L exm804280 9 140611458 [C/G] NM_001145527,NM_024757 EHMT1,EHMT1 EXON Missense_P156A,Missense_P156A exm804288 9 140611518 [T/C] NM_001145527,NM_024757 EHMT1,EHMT1 EXON Missense_P176S,Missense_P176S exm804291 9 140611567 [T/C] NM_001145527,NM_024757 EHMT1,EHMT1 EXON Missense_P192L,Missense_P192L exm804293 9 140611573 [T/C] NM_001145527,NM_024757 EHMT1,EHMT1 EXON Missense_P194L,Missense_P194L exm804300 9 140622895 [A/G] NM_001145527,NM_024757 EHMT1,EHMT1 EXON Missense_R246Q,Missense_R246Q exm804310 9 140637931 [T/C] NM_001145527,NM_024757 EHMT1,EHMT1 EXON Missense_T311M,Missense_T311M exm804322 9 140638477 [A/G] NM_001145527,NM_024757 EHMT1,EHMT1 EXON Missense_A369T,Missense_A369T exm804325 9 140638507 [A/G] NM_001145527,NM_024757 EHMT1,EHMT1 EXON Missense_K379E,Missense_K379E exm804329 9 140638534 [A/G] NM_001145527,NM_024757 EHMT1,EHMT1 EXON Missense_A388T,Missense_A388T exm804336 9 140648742 [T/C] NM_001145527,NM_024757 EHMT1,EHMT1 EXON Synonymous_L456L,Synonymous_L456L exm804354 9 140671143 [A/G] NM_001145527,NM_024757 EHMT1,EHMT1 EXON Missense_N622S,Missense_N622S exm804395 9 140695419 [A/G] NM_024757 EHMT1 EXON Missense_I899V exm804412 9 140707560 [T/G] NM_024757 EHMT1 EXON Missense_Q990H exm2192029 9 140707601 [A/G] NM_024757 EHMT1 EXON Missense_S1004N exm804416 9 140707606 [A/G] NM_024757 EHMT1 EXON Missense_V1006M exm804488 9 140772613 [C/G] NM_001243812,NM_000718 CACNA1B,CACNA1B EXON Missense_F76L,Missense_F76L exm804489 9 140772650 [A/G] NM_001243812,NM_000718 CACNA1B,CACNA1B EXON Missense_K89E,Missense_K89E exm804490 9 140772670 [T/A] NM_001243812,NM_000718 CACNA1B,CACNA1B Silent,Silent exm804514 9 140777299 [T/G] NM_001243812,NM_000718 CACNA1B,CACNA1B EXON Missense_G165V,Missense_G165V exm804557 9 140866027 [A/G] NM_001243812,NM_000718 CACNA1B,CACNA1B EXON Missense_R509Q,Missense_R509Q exm804582 9 140907688 [A/G] NM_001243812,NM_000718 CACNA1B,CACNA1B Silent,Silent exm804631 9 140938277 [T/C] NM_001243812,NM_000718 CACNA1B,CACNA1B EXON Missense_A1113V,Missense_A1113V exm804633 9 140938285 [A/G] NM_001243812,NM_000718 CACNA1B,CACNA1B EXON Missense_V1116M,Missense_V1116M exm2274390 9 140941423 [A/G] NM_001243812,NM_000718 CACNA1B,CACNA1B EXON Missense_A1161T,Missense_A1161T exm2264375 9 140960567 [A/C] NM_001243812,NM_000718 CACNA1B,CACNA1B Silent,Silent exm804704 9 141006877 [T/C] NM_001243812,NM_000718 CACNA1B,CACNA1B EXON Missense_A1819V,Missense_A1819V exm2247915 9 141008848 [A/G] NM_001243812,NM_000718 CACNA1B,CACNA1B EXON Missense_G1852E,Missense_G1852E exm804709 9 141008853 [A/G] NM_001243812,NM_000718 CACNA1B,CACNA1B EXON Missense_V1854I,Missense_V1854I exm804723 9 141012489 [T/C] NM_001243812,NM_000718 CACNA1B,CACNA1B EXON Missense_R1957C,Missense_R1957C exm804730 9 141013212 [A/G] NM_001243812,NM_000718 CACNA1B,CACNA1B EXON Missense_E2008K,Missense_E2008K exm804745 9 141014823 [T/C] NM_001243812,NM_000718 CACNA1B,CACNA1B EXON Synonymous_G2079G,Synonymous_G2079G exm804756 9 141015251 [A/G] NM_001243812,NM_000718 CACNA1B,CACNA1B EXON Missense_R2136H,Missense_R2136H exm804760 9 141015293 [T/C] NM_001243812,NM_000718 CACNA1B,CACNA1B EXON Missense_T2150M,Missense_T2150M exm804761 9 141015296 [T/C] NM_001243812,NM_000718 CACNA1B,CACNA1B EXON Missense_S2151L,Missense_S2151L exm804778 9 141016140 [A/G] NM_001243812,NM_000718 CACNA1B,CACNA1B EXON Synonymous_T2174T,Missense_A2237T exm804779 9 141016155 [C/G] NM_001243812,NM_000718 CACNA1B,CACNA1B EXON Missense_E2179D,Missense_D2242H exm804789 9 141016320 [A/G] NM_001243812,NM_000718 CACNA1B,CACNA1B EXON Synonymous_T2234T,Missense_V2297M exm804796 9 141016441 [A/G] NM_001243812,NM_000718 CACNA1B,CACNA1B EXON Silent,Missense_H2337R exm2273223 X 181779 [T/C] exm1624434 X 208316 [T/C] NR_028057,NM_018390 PLCXD1,PLCXD1 EXON Silent,Missense_R182C exm1624484 X 221792 [A/G] NM_012227 GTPBP6 EXON Missense_H272Y exm1624485 X 221795 [C/G] NM_012227 GTPBP6 EXON Missense_G271R exm1624641 X 299604 [T/C] NM_013239 PPP2R3B EXON Missense_R460H exm1624661 X 302048 [A/G] NM_013239 PPP2R3B EXON Missense_P390L exm1624677 X 302664 [T/G] NM_013239 PPP2R3B EXON Missense_L347I exm-rs6603251 X 320580 [T/C] NM_013239 PPP2R3B Silent exm1624766 X 601612 [A/C] NM_006883,NM_000451 SHOX,SHOX EXON Missense_K181N,Missense_K181N exm2273075 X 718123 [T/G] exm-rs4129148 X 990180 [C/G] exm1624783 X 1314931 [T/C] NM_001012288,NM_022148 CRLF2,CRLF2 EXON Missense_V132M,Missense_V244M exm1624788 X 1315001 [A/C] NM_001012288,NM_022148 CRLF2,CRLF2 EXON Missense_E108D,Missense_E220D exm1624791 X 1317428 [T/C] NM_001012288,NM_022148 CRLF2,CRLF2 EXON Missense_E101K,Missense_E213K exm1624792 X 1317470 [A/G] NM_001012288,NM_022148 CRLF2,CRLF2 EXON Missense_Y87H,Missense_Y199H exm1624794 X 1317533 [T/C] NM_001012288,NM_022148 CRLF2,CRLF2 EXON Missense_E66K,Missense_E178K exm1624797 X 1321349 [T/C] NM_001012288,NM_022148 CRLF2,CRLF2 EXON Missense_V24M,Missense_V136M exm1624804 X 1321404 [T/C] NM_001012288,NM_022148 CRLF2,CRLF2 EXON Synonymous_L5L,Synonymous_L117L exm2248602 X 1325361 [C/G] NM_001012288,NM_022148 CRLF2,CRLF2 EXON Silent,Missense_P105R exm1624862 X 1404785 [A/G] NM_172249,NM_172245,NR_027760,NM_001161529,NM_006140,NM_001161531,NM_001161532,NM_172246,NM_001161530,NM_172247 CSF2RA,CSF2RA,CSF2RA,CSF2RA,CSF2RA,CSF2RA,CSF2RA,CSF2RA,CSF2RA,CSF2RA EXON Missense_D64G,Missense_D64G,Silent,Missense_D64G,Missense_D64G,Missense_D64G,Silent,Missense_D64G,Missense_D64G,Missense_D64G exm1624867 X 1407415 [A/G] NM_172249,NM_172245,NR_027760,NM_001161529,NM_006140,NM_001161531,NM_001161532,NM_172246,NM_001161530,NM_172247 CSF2RA,CSF2RA,CSF2RA,CSF2RA,CSF2RA,CSF2RA,CSF2RA,CSF2RA,CSF2RA,CSF2RA EXON Missense_S75G,Missense_S75G,Silent,Missense_S75G,Missense_S75G,Missense_S75G,Silent,Missense_S75G,Missense_S75G,Missense_S75G exm1624869 X 1407443 [A/G] NM_172249,NM_172245,NR_027760,NM_001161529,NM_006140,NM_001161531,NM_001161532,NM_172246,NM_001161530,NM_172247 CSF2RA,CSF2RA,CSF2RA,CSF2RA,CSF2RA,CSF2RA,CSF2RA,CSF2RA,CSF2RA,CSF2RA EXON Missense_R84H,Missense_R84H,Silent,Missense_R84H,Missense_R84H,Missense_R84H,Silent,Missense_R84H,Missense_R84H,Missense_R84H exm1624872 X 1407526 [T/C] NM_172249,NM_172245,NR_027760,NM_001161529,NM_006140,NM_001161531,NM_001161532,NM_172246,NM_001161530,NM_172247 CSF2RA,CSF2RA,CSF2RA,CSF2RA,CSF2RA,CSF2RA,CSF2RA,CSF2RA,CSF2RA,CSF2RA EXON Missense_P112S,Missense_P112S,Silent,Missense_P112S,Missense_P112S,Missense_P112S,Silent,Missense_P112S,Missense_P112S,Missense_P112S exm1624877 X 1407733 [T/C] NM_172249,NM_172245,NR_027760,NM_001161529,NM_006140,NM_001161531,NM_001161532,NM_172246,NM_001161530,NM_172247 CSF2RA,CSF2RA,CSF2RA,CSF2RA,CSF2RA,CSF2RA,CSF2RA,CSF2RA,CSF2RA,CSF2RA EXON Missense_P142L,Missense_P142L,Silent,Missense_P142L,Missense_P142L,Missense_P142L,Missense_P9L,Missense_P142L,Missense_P142L,Missense_P142L exm1624879 X 1407744 [T/C] NM_172249,NM_172245,NR_027760,NM_001161529,NM_006140,NM_001161531,NM_001161532,NM_172246,NM_001161530,NM_172247 CSF2RA,CSF2RA,CSF2RA,CSF2RA,CSF2RA,CSF2RA,CSF2RA,CSF2RA,CSF2RA,CSF2RA EXON Missense_R146C,Missense_R146C,Silent,Missense_R146C,Missense_R146C,Missense_R146C,Missense_R13C,Missense_R146C,Missense_R146C,Missense_R146C exm1624886 X 1409247 [A/G] NM_172249,NM_172245,NR_027760,NM_001161529,NM_006140,NM_001161531,NM_001161532,NM_172246,NM_001161530,NM_172247 CSF2RA,CSF2RA,CSF2RA,CSF2RA,CSF2RA,CSF2RA,CSF2RA,CSF2RA,CSF2RA,CSF2RA EXON Missense_R164Q,Missense_R164Q,Silent,Missense_R164Q,Missense_R164Q,Missense_R164Q,Missense_R31Q,Missense_R164Q,Missense_R164Q,Missense_R164Q exm1624887 X 1409286 [G/C] NM_172249,NM_172245,NR_027760,NM_001161529,NM_006140,NM_001161531,NM_001161532,NM_172246,NM_001161530,NM_172247 CSF2RA,CSF2RA,CSF2RA,CSF2RA,CSF2RA,CSF2RA,CSF2RA,CSF2RA,CSF2RA,CSF2RA EXON Missense_G177A,Missense_G177A,Silent,Missense_G177A,Missense_G177A,Missense_G177A,Missense_G44A,Missense_G177A,Missense_G177A,Missense_G177A exm1624907 X 1413266 [T/C] NM_172249,NM_172245,NR_027760,NM_001161529,NM_006140,NM_001161531,NM_001161532,NM_172246,NM_001161530,NM_172247 CSF2RA,CSF2RA,CSF2RA,CSF2RA,CSF2RA,CSF2RA,CSF2RA,CSF2RA,CSF2RA,CSF2RA EXON Silent,Missense_T231M,Silent,Missense_T231M,Missense_T231M,Missense_T231M,Missense_T98M,Missense_T231M,Missense_T231M,Missense_T231M exm1624917 X 1414326 [T/C] NM_172249,NM_172245,NR_027760,NM_001161529,NM_006140,NM_001161531,NM_001161532,NM_172246,NM_001161530,NM_172247 CSF2RA,CSF2RA,CSF2RA,CSF2RA,CSF2RA,CSF2RA,CSF2RA,CSF2RA,CSF2RA,CSF2RA EXON Silent,Nonsense_Q263X,Silent,Nonsense_Q263X,Nonsense_Q263X,Nonsense_Q263X,Nonsense_Q130X,Nonsense_Q263X,Nonsense_Q263X,Nonsense_Q263X exm1624931 X 1422836 [A/G] NM_172249,NM_172245,NR_027760,NM_001161529,NM_006140,NM_001161531,NM_001161532,NM_172246,NM_001161530,NM_172247 CSF2RA,CSF2RA,CSF2RA,CSF2RA,CSF2RA,CSF2RA,CSF2RA,CSF2RA,CSF2RA,CSF2RA EXON Silent,Missense_G323S,Silent,Missense_G323S,Missense_G323S,Missense_G323S,Missense_G190S,Silent,Missense_G357S,Silent exm1624934 X 1422866 [A/G] NM_172249,NM_172245,NR_027760,NM_001161529,NM_006140,NM_001161531,NM_001161532,NM_172246,NM_001161530,NM_172247 CSF2RA,CSF2RA,CSF2RA,CSF2RA,CSF2RA,CSF2RA,CSF2RA,CSF2RA,CSF2RA,CSF2RA EXON Silent,Missense_V333M,Silent,Missense_V333M,Missense_V333M,Missense_V333M,Missense_V200M,Silent,Missense_V367M,Silent exm1624939 X 1422903 [T/C] NM_172249,NM_172245,NR_027760,NM_001161529,NM_006140,NM_001161531,NM_001161532,NM_172246,NM_001161530,NM_172247 CSF2RA,CSF2RA,CSF2RA,CSF2RA,CSF2RA,CSF2RA,CSF2RA,CSF2RA,CSF2RA,CSF2RA EXON Silent,Missense_L345P,Silent,Missense_L345P,Missense_L345P,Missense_L345P,Missense_L212P,Silent,Missense_L379P,Silent exm1624943 X 1424351 [A/T] NM_172249,NM_172245,NR_027760,NM_001161529,NM_006140,NM_001161531,NM_001161532,NM_172246,NM_001161530,NM_172247 CSF2RA,CSF2RA,CSF2RA,CSF2RA,CSF2RA,CSF2RA,CSF2RA,CSF2RA,CSF2RA,CSF2RA EXON Missense_Y220F,Synonymous_I352I,Silent,Synonymous_I352I,Synonymous_I352I,Synonymous_I352I,Synonymous_I219I,Silent,Synonymous_I386I,Missense_Y320F exm1624944 X 1424356 [A/G] NM_172249,NM_172245,NR_027760,NM_001161529,NM_006140,NM_001161531,NM_001161532,NM_172246,NM_001161530,NM_172247 CSF2RA,CSF2RA,CSF2RA,CSF2RA,CSF2RA,CSF2RA,CSF2RA,CSF2RA,CSF2RA,CSF2RA EXON Missense_G222S,Missense_R354Q,Silent,Missense_R354Q,Missense_R354Q,Missense_R354Q,Missense_R221Q,Silent,Missense_R388Q,Missense_G322S exm1624946 X 1424366 [A/G] NM_172249,NM_172245,NR_027760,NM_001161529,NM_006140,NM_001161531,NM_001161532,NM_172246,NM_001161530,NM_172247 CSF2RA,CSF2RA,CSF2RA,CSF2RA,CSF2RA,CSF2RA,CSF2RA,CSF2RA,CSF2RA,CSF2RA EXON Missense_R225H,Synonymous_P357P,Silent,Synonymous_P357P,Synonymous_P357P,Synonymous_P357P,Synonymous_P224P,Silent,Synonymous_P391P,Missense_R325H exm1624953 X 1428355 [A/G] NM_172249,NM_172245,NR_027760,NM_001161529,NM_006140,NM_001161532,NM_172246,NM_001161530,NM_172247 CSF2RA,CSF2RA,CSF2RA,CSF2RA,CSF2RA,CSF2RA,CSF2RA,CSF2RA,CSF2RA EXON Silent,Missense_V396M,Silent,Missense_V396M,Missense_V396M,Missense_V263M,Missense_R336H,Missense_V430M,Silent exm1624954 X 1428379 [A/G] NM_172249,NM_172245,NR_027760,NM_001161529,NM_006140,NM_001161532,NM_172246,NM_001161530,NM_172247 CSF2RA,CSF2RA,CSF2RA,CSF2RA,CSF2RA,CSF2RA,CSF2RA,CSF2RA,CSF2RA EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_R344K,Silent,Silent exm1624960 X 1428421 [T/G] NM_172249,NM_172245,NR_027760,NM_001161529,NM_006140,NM_001161532,NM_172246,NM_001161530,NM_172247 CSF2RA,CSF2RA,CSF2RA,CSF2RA,CSF2RA,CSF2RA,CSF2RA,CSF2RA,CSF2RA EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_R358L,Silent,Silent exm2273224 X 1429155 [T/C] exm1624975 X 1460692 [A/G] NM_002183,NM_001267713 IL3RA,IL3RA EXON Missense_A12T,Missense_A12T exm1624995 X 1467347 [G/C] NM_002183,NM_001267713 IL3RA,IL3RA EXON Missense_Q69H,Silent exm1624996 X 1467350 [T/G] NM_002183,NM_001267713 IL3RA,IL3RA EXON Missense_F70L,Silent exm1624999 X 1467387 [A/G] NM_002183,NM_001267713 IL3RA,IL3RA EXON Missense_V83I,Silent exm1625001 X 1467397 [T/C] NM_002183,NM_001267713 IL3RA,IL3RA EXON Missense_A86V,Silent exm1625005 X 1467415 [T/C] NM_002183,NM_001267713 IL3RA,IL3RA EXON Missense_T92M,Silent exm1625022 X 1471348 [A/G] NM_002183,NM_001267713 IL3RA,IL3RA EXON Missense_A189T,Missense_A111T exm1625025 X 1471367 [A/G] NM_002183,NM_001267713 IL3RA,IL3RA EXON Missense_C195Y,Missense_C117Y exm1625029 X 1475174 [A/G] NM_002183,NM_001267713 IL3RA,IL3RA EXON Nonsense_W226X,Nonsense_W148X exm1625030 X 1475197 [C/G] NM_002183,NM_001267713 IL3RA,IL3RA EXON Missense_R234G,Missense_R156G exm1625041 X 1484071 [T/C] NM_002183,NM_001267713 IL3RA,IL3RA EXON Missense_T267M,Missense_T189M exm1625045 X 1484097 [A/G] NM_002183,NM_001267713 IL3RA,IL3RA EXON Missense_E276K,Missense_E198K exm1625046 X 1484101 [A/G] NM_002183,NM_001267713 IL3RA,IL3RA EXON Missense_R277K,Missense_R199K exm2206194 X 1484131 [A/C] NM_002183,NM_001267713 IL3RA,IL3RA EXON Missense_T287N,Missense_T209N exm1625063 X 1499944 [T/C] NM_002183,NM_001267713 IL3RA,IL3RA EXON Missense_R337C,Missense_R259C exm1625064 X 1499945 [A/G] NM_002183,NM_001267713 IL3RA,IL3RA EXON Missense_R337H,Missense_R259H exm1625068 X 1501317 [A/G] NM_002183,NM_001267713 IL3RA,IL3RA EXON Missense_E366K,Missense_E288K exm1625162 X 1536976 [T/C] NM_004192,NM_001173474,NM_001173473 ASMTL,ASMTL,ASMTL EXON Missense_R471H,Missense_R455H,Missense_R413H exm1625200 X 1540706 [A/G] NM_004192,NM_001173474,NM_001173473 ASMTL,ASMTL,ASMTL EXON Missense_Y364H,Missense_Y348H,Missense_Y306H exm1625204 X 1540721 [G/C] NM_004192,NM_001173474,NM_001173473 ASMTL,ASMTL,ASMTL EXON Missense_E359Q,Missense_E343Q,Missense_E301Q exm1625216 X 1544525 [A/G] NM_004192,NM_001173474,NM_001173473 ASMTL,ASMTL,ASMTL EXON Missense_P318L,Missense_P302L,Missense_P260L exm1625222 X 1546664 [T/C] NM_004192,NM_001173474,NM_001173473 ASMTL,ASMTL,ASMTL EXON Missense_R287H,Missense_R271H,Missense_R229H exm1625253 X 1551267 [T/C] NM_004192,NM_001173474,NM_001173473 ASMTL,ASMTL,ASMTL EXON Missense_H135R,Missense_H119R,Missense_H77R exm1625277 X 1558028 [A/G] NM_004192,NM_001173474,NM_001173473 ASMTL,ASMTL,ASMTL EXON Missense_R79W,Silent,Missense_R21W exm1625323 X 1584863 [T/C] NM_178129 P2RY8 EXON Missense_I197V exm2268448 X 1597268 [A/G] NM_178129 P2RY8 Silent exm2208735 X 1734136 [A/C] NM_004043,NM_001171038,NM_001171039 ASMT,ASMT,ASMT EXON Missense_Y15S,Missense_Y15S,Missense_Y15S exm1625510 X 1742203 [A/G] NM_004043,NM_001171038,NM_001171039 ASMT,ASMT,ASMT EXON Missense_K81E,Missense_K81E,Missense_K81E exm1625534 X 1748781 [A/G] NM_004043,NM_001171038,NM_001171039 ASMT,ASMT,ASMT EXON Missense_V171M,Missense_V171M,Missense_V171M exm1625538 X 1748834 [T/C] NM_004043,NM_001171038,NM_001171039 ASMT,ASMT,ASMT Silent,Silent,Silent exm1625545 X 1752130 [T/C] NM_004043,NM_001171038,NM_001171039 ASMT,ASMT,ASMT EXON Missense_T245M,Missense_T245M,Silent exm1625553 X 1755434 [G/C] NM_004043,NM_001171038,NM_001171039 ASMT,ASMT,ASMT EXON Missense_I297M,Missense_I297M,Missense_I222M exm1625554 X 1755445 [C/G] NM_004043,NM_001171038,NM_001171039 ASMT,ASMT,ASMT EXON Missense_C301S,Missense_C301S,Missense_C226S exm1625555 X 1761733 [A/T] NM_004043,NM_001171038,NM_001171039 ASMT,ASMT,ASMT EXON Missense_E316D,Missense_E316D,Missense_E241D exm1625556 X 1761741 [A/G] NM_004043,NM_001171038,NM_001171039 ASMT,ASMT,ASMT EXON Missense_R319Q,Missense_R319Q,Missense_R244Q exm1625569 X 2139168 [A/G] NM_145177 DHRSX EXON Missense_L303F exm1625571 X 2139186 [T/C] NM_145177 DHRSX EXON Missense_E297K exm1625573 X 2139200 [T/C] NM_145177 DHRSX EXON Missense_H292R exm1625610 X 2209590 [A/T] NM_145177 DHRSX EXON Missense_Q114L exm1625631 X 2406711 [T/C] NM_145177,NM_004729,NM_001171135,NM_001171136 DHRSX,ZBED1,ZBED1,ZBED1 EXON Silent,Missense_G684S,Missense_G684S,Missense_G684S exm2273078 X 2575151 [T/G] NR_033380 CD99P1 EXON Silent exm2262791 X 2594011 [A/C] exm2209863 X 2632463 [A/G] NM_002414,NM_001122898 CD99,CD99 EXON Missense_D23G,Missense_D23G exm1625780 X 2638464 [T/C] NM_002414,NM_001122898 CD99,CD99 EXON Synonymous_S87S,Synonymous_S71S exm1625807 X 2658826 [A/G] NM_002414,NM_001122898 CD99,CD99 EXON Missense_R180H,Missense_R164H exm1625819 X 2688612 [T/C] NM_001141919,NM_001141920,NM_175569,NR_003254 XG,XG,XG,XGPY2 EXON Missense_A28V,Missense_A28V,Missense_A28V,Silent exm1625831 X 2700157 [A/G] NM_001141919,NM_001141920,NM_175569 XG,XG,XG EXON Missense_D60N,Missense_D60N,Missense_D60N exm1625832 X 2700163 [A/G] NM_001141919,NM_001141920,NM_175569 XG,XG,XG EXON Missense_G62S,Missense_G62S,Missense_G62S exm1625843 X 2712615 [T/C] NM_001141919,NM_001141920,NM_175569 XG,XG,XG EXON Missense_P98L,Missense_P99L,Missense_P98L exm1625852 X 2715401 [A/G] NM_001141919,NM_001141920,NM_175569 XG,XG,XG EXON Missense_G125R,Missense_G126S,Missense_G125S exm1625855 X 2724760 [T/C] NM_001141919,NM_001141920,NM_175569 XG,XG,XG EXON Missense_L131P,Silent,Silent exm1625862 X 2729382 [A/G] NM_001141919,NM_001141920,NM_175569 XG,XG,XG EXON Missense_M154V,Missense_M140V,Missense_M139V exm1625879 X 2772079 [A/G] NM_001184703,NM_001184704,NM_001079855,NM_001184702,NM_003918 GYG2,GYG2,GYG2,GYG2,GYG2 EXON Missense_D101N,Silent,Missense_D70N,Missense_D70N,Missense_D101N exm1625889 X 2773094 [A/G] NM_001184703,NM_001184704,NM_001079855,NM_001184702,NM_003918 GYG2,GYG2,GYG2,GYG2,GYG2 EXON Missense_G160R,Silent,Missense_G129R,Missense_G129R,Missense_G160R exm1625894 X 2773196 [A/G] NM_001184703,NM_001184704,NM_001079855,NM_001184702,NM_003918 GYG2,GYG2,GYG2,GYG2,GYG2 EXON Missense_G194R,Missense_G8R,Missense_G163R,Missense_G163R,Missense_G194R exm1625898 X 2774635 [T/C] NM_001184703,NM_001184704,NM_001079855,NM_001184702,NM_003918 GYG2,GYG2,GYG2,GYG2,GYG2 EXON Missense_T226M,Missense_T40M,Missense_T195M,Missense_T195M,Missense_T226M exm1625905 X 2777985 [T/C] NM_001184703,NM_001184704,NM_001079855,NM_001184702,NM_003918 GYG2,GYG2,GYG2,GYG2,GYG2 EXON Missense_A270V,Missense_A84V,Missense_A239V,Missense_A239V,Missense_A270V exm1625906 X 2778006 [T/C] NM_001184703,NM_001184704,NM_001079855,NM_001184702,NM_003918 GYG2,GYG2,GYG2,GYG2,GYG2 EXON Missense_A277V,Missense_A91V,Missense_A246V,Missense_A246V,Missense_A277V exm1625909 X 2778068 [A/G] NM_001184703,NM_001184704,NM_001079855,NM_001184702,NM_003918 GYG2,GYG2,GYG2,GYG2,GYG2 EXON Missense_V298I,Missense_V112I,Missense_V267I,Missense_V267I,Missense_V298I exm1625915 X 2779570 [A/G] NM_001184703,NM_001184704,NM_001079855,NM_001184702,NM_003918 GYG2,GYG2,GYG2,GYG2,GYG2 EXON Missense_H313R,Missense_H127R,Missense_H282R,Missense_H282R,Missense_H313R exm2209936 X 2779587 [G/C] NM_001184703,NM_001184704,NM_001079855,NM_001184702,NM_003918 GYG2,GYG2,GYG2,GYG2,GYG2 EXON Missense_P319A,Missense_P133A,Missense_P288A,Missense_P288A,Missense_P319A exm1625922 X 2779645 [T/C] NM_001184703,NM_001184704,NM_001079855,NM_001184702,NM_003918 GYG2,GYG2,GYG2,GYG2,GYG2 EXON Missense_A338V,Missense_A152V,Missense_A307V,Missense_A307V,Missense_A338V exm1625927 X 2779749 [T/C] NM_001184703,NM_001184704,NM_001079855,NM_001184702,NM_003918 GYG2,GYG2,GYG2,GYG2,GYG2 EXON Missense_R373C,Missense_R187C,Missense_R342C,Missense_R342C,Missense_R373C exm1625931 X 2793911 [A/C] NM_001184703,NM_001184704,NM_001079855,NM_001184702,NM_003918 GYG2,GYG2,GYG2,GYG2,GYG2 EXON Silent,Silent,Missense_P367T,Missense_P367T,Missense_P398T exm1625932 X 2793922 [C/G] NM_001184703,NM_001184704,NM_001079855,NM_001184702,NM_003918 GYG2,GYG2,GYG2,GYG2,GYG2 EXON Silent,Silent,Missense_Q370H,Missense_Q370H,Missense_Q401H exm1625933 X 2793951 [T/C] NM_001184703,NM_001184704,NM_001079855,NM_001184702,NM_003918 GYG2,GYG2,GYG2,GYG2,GYG2 EXON Silent,Silent,Missense_I380T,Missense_I380T,Missense_I411T exm1625936 X 2795286 [G/C] NM_001184703,NM_001184704,NM_001079855,NM_001184702,NM_003918 GYG2,GYG2,GYG2,GYG2,GYG2 EXON Silent,Silent,Missense_E397Q,Missense_E396Q,Missense_E428Q exm1625941 X 2799114 [T/C] NM_001184703,NM_001184704,NM_001079855,NM_001184702,NM_003918 GYG2,GYG2,GYG2,GYG2,GYG2 EXON Missense_S385P,Missense_S199P,Missense_S425P,Missense_S424P,Missense_S456P exm1625942 X 2799118 [A/G] NM_001184703,NM_001184704,NM_001079855,NM_001184702,NM_003918 GYG2,GYG2,GYG2,GYG2,GYG2 EXON Missense_Q386R,Missense_Q200R,Missense_Q426R,Missense_Q425R,Missense_Q457R exm1625943 X 2799191 [C/G] NM_001184703,NM_001184704,NM_001079855,NM_001184702,NM_003918 GYG2,GYG2,GYG2,GYG2,GYG2 EXON Missense_I410M,Missense_I224M,Missense_I450M,Missense_I449M,Missense_I481M exm1625945 X 2799240 [C/G] NM_001184703,NM_001184704,NM_001079855,NM_001184702,NM_003918 GYG2,GYG2,GYG2,GYG2,GYG2 EXON Missense_R427G,Missense_R241G,Missense_R467G,Missense_R466G,Missense_R498G exm1625951 X 2825403 [A/G] NM_001669 ARSD EXON Missense_M564T exm1625980 X 2828800 [T/C] NM_001669 ARSD EXON Synonymous_L345L exm1626031 X 2835989 [A/C] NM_001669 ARSD EXON Missense_F240C exm1626033 X 2835995 [A/C] NM_001669 ARSD EXON Missense_C238F exm1626034 X 2836002 [T/C] NM_001669 ARSD EXON Missense_V236M exm1626039 X 2836047 [T/C] NM_001669 ARSD EXON Missense_G221S exm1626043 X 2836078 [A/C] NM_001669 ARSD EXON Synonymous_G210G exm1626047 X 2836140 [A/G] NM_001669 ARSD EXON Missense_P190S exm1626049 X 2836181 [T/A] NM_001669 ARSD EXON Missense_M176K exm1626054 X 2836238 [A/G] NM_001669 ARSD EXON Missense_S157F exm1626070 X 2843789 [A/G] NM_001669 ARSD EXON Missense_L21P exm1626089 X 2854786 [C/G] NM_000047 ARSE EXON Missense_D470H exm1626109 X 2864043 [T/C] NM_000047 ARSE EXON Missense_M329I exm2210010 X 2867424 [C/G] NM_000047 ARSE EXON Missense_H259D exm1626120 X 2867484 [T/C] NM_000047 ARSE EXON Missense_A239T exm1626126 X 2867651 [T/C] NM_000047 ARSE EXON Missense_R183H exm1626131 X 2867732 [T/C] NM_000047 ARSE EXON Missense_S156N exm1626138 X 2873544 [T/C] NM_000047 ARSE EXON Missense_V74M exm1626142 X 2876343 [T/C] NM_000047 ARSE EXON Missense_I53V exm1626148 X 2876397 [T/C] NM_000047 ARSE EXON Missense_A35T exm1626162 X 2924693 [A/G] NM_001011719 ARSH EXON Missense_A14T exm1626164 X 2928087 [T/C] NM_001011719 ARSH EXON Missense_R37C exm1626165 X 2928088 [A/G] NM_001011719 ARSH EXON Missense_R37H exm1626168 X 2928108 [A/G] NM_001011719 ARSH EXON Missense_R44G exm1626172 X 2928139 [T/C] NM_001011719 ARSH EXON Missense_M54T exm1626175 X 2928174 [T/C] NM_001011719 ARSH EXON Missense_R66W exm1626176 X 2928175 [A/G] NM_001011719 ARSH EXON Missense_R66Q exm1626185 X 2933055 [T/C] NM_001011719 ARSH EXON Missense_C129R exm1626189 X 2933067 [G/C] NM_001011719 ARSH EXON Missense_L133V exm1626191 X 2933098 [T/G] NM_001011719 ARSH EXON Missense_V143G exm1626192 X 2933100 [A/C] NM_001011719 ARSH EXON Missense_P144T exm1626193 X 2933137 [T/C] NM_001011719 ARSH EXON Missense_T156I exm1626197 X 2933233 [A/G] NM_001011719 ARSH EXON Missense_R188H exm1626199 X 2933311 [A/G] NM_001011719 ARSH EXON Missense_S214N exm1626201 X 2933323 [T/C] NM_001011719 ARSH EXON Missense_T218I exm1626206 X 2936622 [A/G] NM_001011719 ARSH EXON Missense_H271R exm1626211 X 2936675 [T/G] NM_001011719 ARSH EXON Missense_Y289D exm1626223 X 2945494 [A/G] NM_001011719 ARSH EXON Missense_G393R exm1626226 X 2947312 [A/G] NM_001011719 ARSH EXON Missense_M408I exm2277425 X 2951091 [C/G] NM_001011719 ARSH EXON Missense_P452A exm1626237 X 2951212 [T/C] NM_001011719 ARSH EXON Missense_A492V exm1626239 X 2951253 [A/G] NM_001011719 ARSH EXON Missense_V506M exm1626243 X 2951289 [T/C] NM_001011719 ARSH EXON Missense_R518C exm1626244 X 2951347 [T/C] NM_001011719 ARSH EXON Missense_P537L exm1626263 X 2994602 [G/C] NM_001201538,NM_001201539,NM_004042 ARSF,ARSF,ARSF EXON Missense_D59H,Missense_D59H,Missense_D59H exm2210125 X 3002379 [A/T] NM_001201538,NM_001201539,NM_004042 ARSF,ARSF,ARSF EXON Missense_T168S,Missense_T168S,Missense_T168S exm1626285 X 3002412 [T/C] NM_001201538,NM_001201539,NM_004042 ARSF,ARSF,ARSF EXON Missense_R179C,Missense_R179C,Missense_R179C exm1626289 X 3002475 [A/G] NM_001201538,NM_001201539,NM_004042 ARSF,ARSF,ARSF EXON Missense_I200V,Missense_I200V,Missense_I200V exm2210127 X 3002526 [T/C] NM_001201538,NM_001201539,NM_004042 ARSF,ARSF,ARSF EXON Missense_L217F,Missense_L217F,Missense_L217F exm1626296 X 3002593 [A/C] NM_001201538,NM_001201539,NM_004042 ARSF,ARSF,ARSF EXON Missense_S239Y,Missense_S239Y,Missense_S239Y exm1626298 X 3002623 [T/G] NM_001201538,NM_001201539,NM_004042 ARSF,ARSF,ARSF EXON Missense_R249L,Missense_R249L,Missense_R249L exm1626299 X 3002630 [C/G] NM_001201538,NM_001201539,NM_004042 ARSF,ARSF,ARSF EXON Missense_H251Q,Missense_H251Q,Missense_H251Q exm1626300 X 3002638 [T/C] NM_001201538,NM_001201539,NM_004042 ARSF,ARSF,ARSF EXON Missense_T254M,Missense_T254M,Missense_T254M exm1626304 X 3002704 [A/G] NM_001201538,NM_001201539,NM_004042 ARSF,ARSF,ARSF EXON Missense_E276G,Missense_E276G,Missense_E276G exm1626317 X 3019246 [T/G] NM_001201538,NM_001201539,NM_004042 ARSF,ARSF,ARSF EXON Missense_W362C,Missense_W362C,Missense_W362C exm1626323 X 3021883 [T/C] NM_001201538,NM_001201539,NM_004042 ARSF,ARSF,ARSF EXON Missense_R395W,Missense_R395W,Missense_R395W exm1626343 X 3030403 [T/C] NM_001201538,NM_001201539,NM_004042 ARSF,ARSF,ARSF EXON Missense_H527Y,Missense_H527Y,Missense_H527Y exm2262799 X 3081642 [T/C] exm-rs5939486 X 3214176 [A/C] exm1626364 X 3227866 [A/C] NM_015419 MXRA5 EXON Missense_G2793V exm1626423 X 3228966 [G/C] NM_015419 MXRA5 EXON Missense_E2426D exm1626436 X 3229180 [A/G] NM_015419 MXRA5 EXON Missense_A2355V exm1626438 X 3229208 [T/C] NM_015419 MXRA5 EXON Missense_A2346T exm1626443 X 3229337 [T/C] NM_015419 MXRA5 EXON Missense_V2303I exm1626456 X 3229525 [A/G] NM_015419 MXRA5 EXON Missense_M2240T exm1626460 X 3229580 [T/C] NM_015419 MXRA5 EXON Missense_V2222I exm1626476 X 3235471 [G/C] NM_015419 MXRA5 EXON Missense_G2084A exm1626484 X 3235607 [A/G] NM_015419 MXRA5 EXON Missense_R2039C exm1626485 X 3235612 [A/G] NM_015419 MXRA5 EXON Missense_A2037V exm1626490 X 3235724 [T/C] NM_015419 MXRA5 EXON Missense_G2000S exm1626491 X 3235735 [A/G] NM_015419 MXRA5 EXON Missense_S1996F exm1626507 X 3238069 [A/G] NM_015419 MXRA5 EXON Missense_T1886I exm1626513 X 3238221 [A/C] NM_015419 MXRA5 EXON Missense_K1835N exm1626517 X 3238279 [A/C] NM_015419 MXRA5 EXON Missense_I1816S exm1626530 X 3238733 [A/G] NM_015419 MXRA5 EXON Missense_P1665S exm1626532 X 3238787 [C/G] NM_015419 MXRA5 EXON Missense_E1647Q exm1626537 X 3238938 [T/A] NM_015419 MXRA5 EXON Missense_D1596E exm1626538 X 3238945 [T/C] NM_015419 MXRA5 EXON Missense_R1594H exm1626542 X 3239001 [T/G] NM_015419 MXRA5 EXON Missense_E1575D exm1626544 X 3239063 [A/G] NM_015419 MXRA5 EXON Missense_P1555S exm1626552 X 3239276 [T/C] NM_015419 MXRA5 EXON Missense_T1484A exm1626553 X 3239336 [A/G] NM_015419 MXRA5 EXON Missense_H1464Y exm1626559 X 3239465 [T/C] NM_015419 MXRA5 EXON Missense_E1421K exm1626562 X 3239545 [T/C] NM_015419 MXRA5 EXON Missense_G1394D exm1626567 X 3239674 [A/G] NM_015419 MXRA5 EXON Missense_A1351V exm2210439 X 3239721 [T/G] NM_015419 MXRA5 EXON Missense_D1335E exm1626570 X 3239777 [A/G] NM_015419 MXRA5 EXON Missense_Y1317H exm1626571 X 3239828 [T/C] NM_015419 MXRA5 EXON Missense_R1300G exm1626577 X 3240089 [A/G] NM_015419 MXRA5 EXON Missense_P1213S exm1626582 X 3240206 [A/T] NM_015419 MXRA5 EXON Missense_F1174I exm1626583 X 3240238 [T/C] NM_015419 MXRA5 EXON Missense_R1163H exm1626587 X 3240343 [A/G] NM_015419 MXRA5 EXON Missense_A1128V exm1626594 X 3240445 [A/G] NM_015419 MXRA5 EXON Missense_T1094I exm1626598 X 3240650 [A/G] NM_015419 MXRA5 EXON Missense_P1026S exm1626609 X 3241078 [A/G] NM_015419 MXRA5 EXON Missense_P883L exm1626612 X 3241246 [C/G] NM_015419 MXRA5 EXON Missense_P827R exm1626613 X 3241256 [T/C] NM_015419 MXRA5 EXON Missense_I824V exm1626618 X 3241334 [T/C] NM_015419 MXRA5 EXON Missense_G798S exm1626621 X 3241377 [T/C] NM_015419 MXRA5 EXON Nonsense_W783X exm1626626 X 3241436 [C/G] NM_015419 MXRA5 EXON Missense_V764L exm1626627 X 3241465 [A/G] NM_015419 MXRA5 EXON Missense_P754L exm1626628 X 3241477 [A/G] NM_015419 MXRA5 EXON Missense_S750L exm1626630 X 3241502 [T/C] NM_015419 MXRA5 EXON Missense_R742G exm1626635 X 3241597 [T/G] NM_015419 MXRA5 EXON Missense_T710N exm1626636 X 3241601 [T/C] NM_015419 MXRA5 EXON Missense_N709D exm1626639 X 3241640 [A/C] NM_015419 MXRA5 EXON Missense_V696L exm1626640 X 3241705 [A/C] NM_015419 MXRA5 EXON Missense_G674V exm1626644 X 3241738 [A/G] NM_015419 MXRA5 EXON Missense_T663M exm1626645 X 3241739 [T/C] NM_015419 MXRA5 EXON Missense_T663A exm1626651 X 3241943 [T/C] NM_015419 MXRA5 EXON Missense_V595M exm1626655 X 3241966 [A/G] NM_015419 MXRA5 EXON Missense_I587T exm1626668 X 3242386 [A/G] NM_015419 MXRA5 EXON Missense_T447M exm1626674 X 3242614 [T/C] NM_015419 MXRA5 EXON Missense_R371Q exm1626682 X 3242747 [T/C] NM_015419 MXRA5 EXON Missense_G327R exm1626686 X 3242785 [T/G] NM_015419 MXRA5 EXON Missense_P314H exm1626695 X 3248104 [T/C] NM_015419 MXRA5 EXON Missense_D222N exm2273079 X 3354489 [T/C] exm1626722 X 3530357 [T/C] NM_005044 PRKX EXON Missense_V321M exm1626727 X 3533872 [A/G] NM_005044 PRKX EXON Missense_P312L exm2210634 X 3573434 [T/C] NM_005044 PRKX EXON Missense_E119K exm1626755 X 3631167 [A/G] NM_005044 PRKX EXON Missense_V43A exm2262814 X 4258400 [T/C] exm2273081 X 4594630 [T/G] exm-rs5916687 X 4596138 [A/G] exm2264746 X 5045078 [A/C] exm2268564 X 5362773 [A/G] exm2273082 X 5761897 [T/C] exm2264747 X 5989575 [A/C] NM_020742,NM_181332 NLGN4X,NLGN4X Silent,Silent exm1626840 X 6069116 [T/C] NM_020742,NM_181332 NLGN4X,NLGN4X EXON Missense_N131S,Missense_N131S exm-rs7885458 X 6220474 [T/C] exm2268565 X 6497085 [A/G] exm2268449 X 6696168 [A/G] exm1626916 X 6975752 [T/G] NM_001135565,NM_012080,NM_001178136,NM_001178135 HDHD1,HDHD1,HDHD1,HDHD1 EXON Silent,Silent,Silent,Missense_T208N exm1626917 X 6975782 [C/G] NM_001135565,NM_012080,NM_001178136,NM_001178135 HDHD1,HDHD1,HDHD1,HDHD1 EXON Silent,Silent,Silent,Missense_C198S exm1626923 X 6995338 [G/C] NM_001135565,NM_012080,NM_001178136,NM_001178135 HDHD1,HDHD1,HDHD1,HDHD1 EXON Missense_V168L,Missense_V145L,Missense_V102L,Missense_V145L exm1626935 X 7023678 [A/G] NM_001135565,NM_012080,NM_001178136,NM_001178135 HDHD1,HDHD1,HDHD1,HDHD1 EXON Missense_T111M,Missense_T88M,Silent,Missense_T88M exm1626955 X 7175312 [T/G] NM_000351 STS EXON Missense_G61V exm1626956 X 7175525 [A/G] NM_000351 STS EXON Missense_R98H exm1626961 X 7177462 [A/G] NM_000351 STS EXON Missense_N157S exm1626976 X 7177762 [T/A] NM_000351 STS EXON Missense_Y257F exm1626977 X 7177812 [T/C] NM_000351 STS EXON Missense_R274W exm1626990 X 7243422 [G/C] NM_000351 STS EXON Missense_G380A exm1626991 X 7243431 [A/G] NM_000351 STS EXON Missense_R383H exm1626993 X 7243441 [G/C] NM_000351 STS EXON Missense_R386S exm1626994 X 7243510 [C/G] NM_000351 STS EXON Missense_K409N exm1626995 X 7243536 [A/G] NM_000351 STS EXON Missense_D418G exm1627012 X 7268296 [C/G] NM_000351 STS EXON Missense_S582R exm2273083 X 7396902 [T/C] exm2273227 X 7575984 [T/C] exm1627117 X 7870127 [T/G] NM_004650,NM_001172672,NM_001142389 PNPLA4,PNPLA4,PNPLA4 EXON Missense_T178K,Missense_T91K,Missense_T178K exm1627118 X 7870137 [T/C] NM_004650,NM_001172672,NM_001142389 PNPLA4,PNPLA4,PNPLA4 EXON Missense_V175I,Missense_V88I,Missense_V175I exm1627122 X 7889828 [T/C] NM_004650,NM_001172672,NM_001142389 PNPLA4,PNPLA4,PNPLA4 EXON Missense_V113I,Missense_V26I,Missense_V113I exm1627127 X 7890056 [T/C] NM_004650,NM_001172672,NM_001142389 PNPLA4,PNPLA4,PNPLA4 EXON Missense_M88I,Missense_M1I,Missense_M88I exm1627136 X 7893997 [C/G] NM_004650,NM_001172672,NM_001142389 PNPLA4,PNPLA4,PNPLA4 EXON Missense_A55G,Silent,Missense_A55G exm2268450 X 7910475 [A/G] exm1627143 X 8138080 [G/C] NM_016378 VCX2 EXON Missense_T138S exm1627146 X 8138093 [T/C] NM_016378 VCX2 EXON Missense_V134I exm2277446 X 8138138 [C/G] NM_016378 VCX2 EXON Missense_E119Q exm-rs7892812 X 8394253 [A/G] exm1627269 X 8503847 [T/C] NM_000216 KAL1 EXON Missense_V543I exm1627271 X 8504818 [T/C] NM_000216 KAL1 EXON Missense_E539K exm1627276 X 8504901 [T/G] NM_000216 KAL1 EXON Missense_S511Y exm1627285 X 8522064 [A/G] NM_000216 KAL1 EXON Missense_P428L exm1627291 X 8536293 [A/G] NM_000216 KAL1 EXON Missense_S396L exm1627298 X 8538633 [G/C] NM_000216 KAL1 EXON Missense_I323M exm1627302 X 8538712 [T/C] NM_000216 KAL1 EXON Missense_R297Q exm2262866 X 8539504 [A/G] NM_000216 KAL1 Silent exm1627305 X 8553320 [T/G] NM_000216 KAL1 EXON Missense_R282S exm1627311 X 8556006 [G/C] NM_000216 KAL1 EXON Missense_K185N exm1627314 X 8565153 [T/C] NM_000216 KAL1 EXON Missense_N155D exm1627329 X 8759414 [T/C] NM_001171186,NM_174951 FAM9A,FAM9A EXON Missense_K313E,Missense_K313E exm2215648 X 8761721 [A/G] NM_001171186,NM_174951 FAM9A,FAM9A EXON Missense_P303L,Missense_P303L exm1627358 X 8763436 [A/G] NM_001171186,NM_174951 FAM9A,FAM9A EXON Missense_R172W,Missense_R172W exm1627361 X 8764328 [T/C] NM_001171186,NM_174951 FAM9A,FAM9A EXON Missense_K157E,Missense_K157E exm1627364 X 8764370 [T/C] NM_001171186,NM_174951 FAM9A,FAM9A EXON Missense_A143T,Missense_A143T exm1627372 X 8767018 [T/C] NM_001171186,NM_174951 FAM9A,FAM9A EXON Missense_K70R,Missense_K70R exm1627385 X 8993596 [T/C] NM_205849 FAM9B EXON Missense_D174G exm1627388 X 8995914 [T/C] NM_205849 FAM9B EXON Missense_V163I exm1627390 X 8995925 [T/C] NM_205849 FAM9B EXON Missense_R159H exm1627393 X 8997350 [T/C] NM_205849 FAM9B EXON Missense_I131V exm1627396 X 8997440 [A/G] NM_205849 FAM9B EXON Missense_H101Y exm2268451 X 9442326 [A/G] NM_001139466,NM_001139468,NM_001139467,NM_005647 TBL1X,TBL1X,TBL1X,TBL1X Silent,Silent,Silent,Silent exm1627410 X 9621636 [T/C] NM_001139466,NM_001139468,NM_001139467,NM_005647 TBL1X,TBL1X,TBL1X,TBL1X EXON Missense_L4F,Silent,Silent,Missense_L4F exm1627412 X 9621639 [T/G] NM_001139466,NM_001139468,NM_001139467,NM_005647 TBL1X,TBL1X,TBL1X,TBL1X EXON Missense_A5S,Silent,Silent,Missense_A5S exm1627416 X 9621715 [A/G] NM_001139466,NM_001139468,NM_001139467,NM_005647 TBL1X,TBL1X,TBL1X,TBL1X EXON Missense_R30H,Silent,Silent,Missense_R30H exm1627433 X 9656240 [A/G] NM_001139466,NM_001139468,NM_001139467,NM_005647 TBL1X,TBL1X,TBL1X,TBL1X EXON Missense_G181S,Missense_G130S,Missense_G130S,Missense_G181S exm1627461 X 9673069 [T/C] NM_001139466,NM_001139468,NM_001139467,NM_005647 TBL1X,TBL1X,TBL1X,TBL1X EXON Missense_T384I,Missense_T333I,Missense_T333I,Missense_T384I exm2262882 X 9689127 [A/C] exm1627482 X 9693808 [A/G] NM_000273 GPR143 EXON Missense_L398P exm1627486 X 9693868 [T/C] NM_000273 GPR143 EXON Missense_S378N exm1627488 X 9707566 [T/C] NM_000273 GPR143 EXON Missense_G360D exm1627491 X 9707609 [T/C] NM_000273 GPR143 EXON Missense_M346V exm1627497 X 9711708 [A/G] NM_000273 GPR143 EXON Missense_S222P exm1627498 X 9714087 [T/C] NM_000273 GPR143 EXON Missense_A219T exm1627503 X 9714186 [A/G] NM_000273 GPR143 EXON Missense_R186W exm1627504 X 9716621 [T/C] NM_000273 GPR143 EXON Missense_V181M exm1627511 X 9727391 [A/G] NM_000273 GPR143 EXON Missense_R146W exm1627522 X 9728836 [C/G] NM_000273 GPR143 EXON Missense_G94A exm1627545 X 9841734 [T/G] NM_001649 SHROOM2 EXON Missense_A70S exm1627560 X 9859136 [A/G] NM_001649 SHROOM2 EXON Missense_R146Q exm1627574 X 9862579 [A/G] NM_001649 SHROOM2 EXON Missense_G211S exm1627577 X 9862630 [A/G] NM_001649 SHROOM2 EXON Missense_D228N exm1627581 X 9862711 [A/G] NM_001649 SHROOM2 EXON Missense_A255T exm1627590 X 9862952 [T/C] NM_001649 SHROOM2 EXON Missense_A335V exm1627592 X 9863016 [T/G] NM_001649 SHROOM2 EXON Missense_Q356H exm1627606 X 9863266 [A/G] NM_001649 SHROOM2 EXON Missense_A440T exm1627607 X 9863286 [T/G] NM_001649 SHROOM2 EXON Missense_E446D exm1627608 X 9863290 [A/G] NM_001649 SHROOM2 EXON Missense_G448R exm1627615 X 9863426 [T/G] NM_001649 SHROOM2 EXON Missense_G493V exm1627619 X 9863474 [A/C] NM_001649 SHROOM2 EXON Missense_P509Q exm1627620 X 9863497 [T/C] NM_001649 SHROOM2 EXON Missense_R517C exm1627621 X 9863498 [A/G] NM_001649 SHROOM2 EXON Missense_R517H exm1627627 X 9863587 [A/G] NM_001649 SHROOM2 EXON Missense_A547T exm1627639 X 9863818 [A/G] NM_001649 SHROOM2 EXON Missense_D624N exm1627640 X 9863929 [A/G] NM_001649 SHROOM2 EXON Missense_G661S exm1627642 X 9863944 [T/G] NM_001649 SHROOM2 EXON Missense_G666W exm1627646 X 9864085 [T/C] NM_001649 SHROOM2 EXON Missense_S713P exm1627648 X 9864143 [A/T] NM_001649 SHROOM2 EXON Missense_L732Q exm1627659 X 9864406 [A/G] NM_001649 SHROOM2 EXON Missense_G820R exm1627660 X 9864409 [A/C] NM_001649 SHROOM2 EXON Missense_I821L exm1627666 X 9864443 [T/C] NM_001649 SHROOM2 EXON Missense_A832V exm1627678 X 9864551 [A/G] NM_001649 SHROOM2 EXON Missense_R868Q exm2215862 X 9864641 [T/C] NM_001649 SHROOM2 EXON Missense_A898V exm1627685 X 9866233 [T/G] NM_001649 SHROOM2 EXON Missense_A932S exm1627687 X 9866265 [A/C] NM_001649 SHROOM2 EXON Missense_D942E exm1627696 X 9900348 [T/C] NM_001649 SHROOM2 EXON Missense_R1009W exm2215868 X 9900358 [A/C] NM_001649 SHROOM2 EXON Missense_A1012E exm1627703 X 9900532 [A/G] NM_001649 SHROOM2 EXON Missense_R1070H exm1627706 X 9900586 [G/C] NM_001649 SHROOM2 EXON Missense_G1088A exm1627722 X 9900909 [A/G] NM_001649 SHROOM2 EXON Missense_R1196G exm1627732 X 9905324 [G/C] NM_001649 SHROOM2 EXON Missense_Q1246H exm2215877 X 9905580 [A/G] NM_001649 SHROOM2 EXON Missense_D1332N exm1627761 X 9907369 [T/C] NM_001649 SHROOM2 EXON Missense_S1425L exm1627767 X 9912724 [A/G] NM_001649 SHROOM2 EXON Missense_R1452Q exm1627771 X 9912780 [A/G] NM_001649 SHROOM2 EXON Missense_E1471K exm1627773 X 9912792 [A/G] NM_001649 SHROOM2 EXON Missense_I1475V exm1627774 X 9912804 [A/G] NM_001649 SHROOM2 EXON Missense_V1479I exm2277448 X 9914796 [A/G] NM_001649 SHROOM2 EXON Missense_R1557H exm1627791 X 9914947 [C/G] NM_001649 SHROOM2 EXON Missense_L1607F exm1627796 X 10035443 [A/G] NM_015691 WWC3 EXON Missense_I45V exm2268452 X 10053642 [A/G] NM_015691 WWC3 Silent exm1627804 X 10058819 [A/G] NM_015691 WWC3 EXON Missense_R129Q exm1627812 X 10062220 [A/G] NM_015691 WWC3 EXON Missense_D186N exm1627820 X 10077847 [A/G] NM_015691 WWC3 EXON Missense_R254Q exm1627824 X 10077882 [A/G] NM_015691 WWC3 EXON Missense_A266T exm1627837 X 10085285 [A/G] NM_015691 WWC3 EXON Missense_G396S exm1627846 X 10085421 [A/G] NM_015691 WWC3 EXON Missense_R441Q exm1627857 X 10085582 [A/G] NM_015691 WWC3 EXON Missense_A495T exm1627861 X 10085625 [A/G] NM_015691 WWC3 EXON Missense_E509G exm1627867 X 10085702 [T/C] NM_015691 WWC3 EXON Missense_P535S exm1627872 X 10090709 [T/C] NM_015691 WWC3 EXON Missense_R561C exm1627873 X 10090710 [A/G] NM_015691 WWC3 EXON Missense_R561H exm1627875 X 10090718 [A/G] NM_015691 WWC3 EXON Missense_A564T exm1627880 X 10092331 [A/G] NM_015691 WWC3 EXON Missense_Y593C exm1627886 X 10093084 [A/G] NM_015691 WWC3 EXON Missense_C616Y exm1627889 X 10094186 [T/C] NM_015691 WWC3 EXON Missense_S649L exm1627891 X 10094215 [A/G] NM_015691 WWC3 EXON Missense_A659T exm1627900 X 10096056 [A/G] NM_015691 WWC3 EXON Missense_Y712C exm1627901 X 10096068 [A/G] NM_015691 WWC3 EXON Missense_S716N exm1627902 X 10096082 [T/C] NM_015691 WWC3 EXON Missense_R721C exm1627903 X 10096083 [A/G] NM_015691 WWC3 EXON Missense_R721H exm1627905 X 10096115 [G/C] NM_015691 WWC3 EXON Missense_E732Q exm1627907 X 10096130 [T/C] NM_015691 WWC3 EXON Missense_R737W exm1627913 X 10096164 [A/G] NM_015691 WWC3 EXON Missense_R748Q exm1627923 X 10098055 [T/C] NM_015691 WWC3 EXON Missense_P831L exm1627928 X 10102491 [T/C] NM_015691 WWC3 EXON Missense_T873M exm1627931 X 10102548 [A/G] NM_015691 WWC3 EXON Missense_R892Q exm1627932 X 10102554 [A/G] NM_015691 WWC3 EXON Missense_R894Q exm1627936 X 10104749 [A/C] NM_015691 WWC3 EXON Missense_T947N exm1627938 X 10104754 [T/C] NM_015691 WWC3 EXON Missense_R949C exm1627939 X 10104758 [A/G] NM_015691 WWC3 EXON Missense_Y950C exm1627942 X 10106780 [A/C] NM_015691 WWC3 EXON Missense_A963D exm2202106 X 10106838 [C/G] NM_015691 WWC3 EXON Missense_Q982H exm1627964 X 10153083 [T/C] NM_001256944,NM_001830 CLCN4,CLCN4 EXON Silent,Missense_A4V exm2202171 X 10153089 [T/C] NM_001256944,NM_001830 CLCN4,CLCN4 EXON Silent,Missense_A6V exm1628008 X 10180552 [A/G] NM_001256944,NM_001830 CLCN4,CLCN4 EXON Missense_A385T,Missense_A479T exm1628017 X 10180692 [T/C] NM_001256944,NM_001830 CLCN4,CLCN4 EXON Synonymous_L431L,Synonymous_L525L exm1628031 X 10188755 [T/C] NM_001256944,NM_001830 CLCN4,CLCN4 EXON Missense_T583M,Missense_T677M exm-rs12388359 X 10231691 [T/G] exm2268453 X 10297210 [A/G] exm1628044 X 10417412 [A/G] NM_001098624,NM_033290,NM_001193277,NM_033289,NM_000381 MID1,MID1,MID1,MID1,MID1 EXON Missense_P667L,Missense_P667L,Missense_P667L,Missense_P629L,Missense_P667L exm1628045 X 10417424 [A/G] NM_001098624,NM_033290,NM_001193277,NM_033289,NM_000381 MID1,MID1,MID1,MID1,MID1 EXON Missense_T663I,Missense_T663I,Missense_T663I,Missense_T625I,Missense_T663I exm1628053 X 10423004 [A/G] NM_001098624,NM_033290,NM_001193277,NM_033289,NM_000381 MID1,MID1,MID1,MID1,MID1 EXON Missense_R521C,Missense_R521C,Missense_R521C,Missense_R483C,Missense_R521C exm2248517 X 10450577 [A/G] NM_001098624,NM_033290,NM_001193277,NM_033289,NM_000381,NM_001193280,NM_001193279,NM_001193278 MID1,MID1,MID1,MID1,MID1,MID1,MID1,MID1 EXON Missense_S319F,Missense_S319F,Missense_S319F,Missense_S281F,Missense_S319F,Missense_S281F,Missense_S319F,Missense_S370F exm1628072 X 10474513 [T/C] NM_001098624,NM_033290,NM_001193277,NM_033289,NM_000381,NM_001193280,NM_001193279,NM_001193278,NM_001193281 MID1,MID1,MID1,MID1,MID1,MID1,MID1,MID1,MID1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_V219I exm1628073 X 10491202 [T/C] NM_001098624,NM_033290,NM_001193277,NM_033289,NM_000381,NM_001193280,NM_001193279,NM_001193278,NM_001193281 MID1,MID1,MID1,MID1,MID1,MID1,MID1,MID1,MID1 EXON Missense_N229S,Missense_N229S,Missense_N229S,Missense_N191S,Missense_N229S,Missense_N191S,Missense_N229S,Missense_N229S,Missense_N191S exm1628079 X 10535286 [T/C] NM_001098624,NM_033290,NM_001193277,NM_033289,NM_000381,NM_001193280,NM_001193279,NM_001193278,NM_001193281 MID1,MID1,MID1,MID1,MID1,MID1,MID1,MID1,MID1 EXON Missense_R101H,Missense_R101H,Missense_R101H,Missense_R101H,Missense_R101H,Missense_R101H,Missense_R101H,Missense_R101H,Missense_R101H exm1628083 X 10535359 [T/C] NM_001098624,NM_033290,NM_001193277,NM_033289,NM_000381,NM_001193280,NM_001193279,NM_001193278,NM_001193281 MID1,MID1,MID1,MID1,MID1,MID1,MID1,MID1,MID1 EXON Missense_V77I,Missense_V77I,Missense_V77I,Missense_V77I,Missense_V77I,Missense_V77I,Missense_V77I,Missense_V77I,Missense_V77I exm1628086 X 10535488 [T/C] NM_001098624,NM_033290,NM_001193277,NM_033289,NM_000381,NM_001193280,NM_001193279,NM_001193278,NM_001193281 MID1,MID1,MID1,MID1,MID1,MID1,MID1,MID1,MID1 EXON Missense_A34T,Missense_A34T,Missense_A34T,Missense_A34T,Missense_A34T,Missense_A34T,Missense_A34T,Missense_A34T,Missense_A34T exm2268454 X 10826354 [A/G] NM_033290 MID1 Silent exm2273228 X 10873223 [T/C] exm-rs5934953 X 11048692 [T/C] exm1628103 X 11130185 [A/G] NM_001171991,NM_005333,NM_001122608 HCCS,HCCS,HCCS EXON Missense_G2D,Missense_G2D,Missense_G2D exm1628108 X 11133029 [T/C] NM_001171991,NM_005333,NM_001122608 HCCS,HCCS,HCCS EXON Missense_R59C,Missense_R59C,Missense_R59C exm1628112 X 11133069 [T/C] NM_001171991,NM_005333,NM_001122608 HCCS,HCCS,HCCS EXON Missense_A72V,Missense_A72V,Missense_A72V exm2203267 X 11136737 [T/C] NM_001171991,NM_005333,NM_001122608 HCCS,HCCS,HCCS EXON Missense_A173V,Missense_A173V,Missense_A173V exm1628138 X 11157154 [A/C] NM_013427,NM_013423 ARHGAP6,ARHGAP6 EXON Missense_E918D,Missense_E715D exm1628139 X 11157162 [T/C] NM_013427,NM_013423 ARHGAP6,ARHGAP6 EXON Missense_E916K,Missense_E713K exm1628140 X 11157189 [G/C] NM_013427,NM_013423 ARHGAP6,ARHGAP6 EXON Missense_P907A,Missense_P704A exm1628142 X 11157198 [A/C] NM_013427,NM_013423 ARHGAP6,ARHGAP6 EXON Missense_V904L,Missense_V701L exm1628146 X 11157302 [G/C] NM_013427,NM_013423 ARHGAP6,ARHGAP6 EXON Missense_R869T,Missense_R666T exm1628153 X 11157535 [G/C] NM_013427,NM_013423 ARHGAP6,ARHGAP6 EXON Missense_D791E,Missense_D588E exm1628157 X 11160376 [T/C] NM_013427,NM_013423 ARHGAP6,ARHGAP6 EXON Missense_G745E,Missense_G542E exm1628158 X 11160419 [T/G] NM_013427,NM_013423 ARHGAP6,ARHGAP6 EXON Missense_P731T,Missense_P528T exm1628160 X 11162006 [A/G] NM_013427,NM_013423,NM_006125 ARHGAP6,ARHGAP6,ARHGAP6 EXON Silent,Silent,Missense_S757L exm1628162 X 11162076 [A/G] NM_013427,NM_013423,NM_006125 ARHGAP6,ARHGAP6,ARHGAP6 EXON Silent,Silent,Missense_R734C exm1628165 X 11162201 [T/C] NM_013427,NM_013423,NM_006125 ARHGAP6,ARHGAP6,ARHGAP6 EXON Missense_G692D,Missense_G489D,Missense_G692D exm1628183 X 11197422 [T/A] NM_013427,NM_013423,NM_006125 ARHGAP6,ARHGAP6,ARHGAP6 EXON Missense_L494M,Missense_L291M,Missense_L494M exm1628203 X 11207098 [A/C] NM_013427,NM_013423,NM_006125 ARHGAP6,ARHGAP6,ARHGAP6 EXON Missense_I276S,Missense_I73S,Missense_I276S exm1628207 X 11272704 [T/C] NM_013427,NM_013423,NM_006125 ARHGAP6,ARHGAP6,ARHGAP6 EXON Missense_D238N,Missense_D35N,Missense_D238N exm1628227 X 11316959 [T/G] NM_013427,NM_006125,NM_182681,NM_001142,NM_182680 ARHGAP6,ARHGAP6,AMELX,AMELX,AMELX EXON Silent,Silent,Missense_V130L,Missense_V146L,Missense_V160L exm1628244 X 11682470 [A/C] NM_013427,NM_006125 ARHGAP6,ARHGAP6 EXON Missense_G160V,Missense_G160V exm1628260 X 11776387 [C/G] NM_078629,NM_078628 MSL3,MSL3 EXON Missense_S2T,Missense_S2T exm1628302 X 11783771 [A/G] NM_078629,NM_078628,NM_001193270,NM_006800 MSL3,MSL3,MSL3,MSL3 EXON Missense_S365N,Missense_S365N,Missense_S353N,Missense_S199N exm2262729 X 11839452 [T/C] exm2273087 X 11889104 [T/C] exm2268567 X 12359018 [A/G] NM_014728 FRMPD4 Silent exm2273088 X 12419996 [T/G] NM_014728 FRMPD4 Silent exm1628344 X 12632966 [A/G] NM_014728 FRMPD4 EXON Missense_A130T exm1628365 X 12725742 [A/G] NM_014728 FRMPD4 EXON Missense_R481Q exm2204319 X 12734214 [T/C] NM_014728 FRMPD4 EXON Missense_L546F exm1628376 X 12734314 [T/C] NM_014728 FRMPD4 EXON Missense_T579M exm1628380 X 12734503 [T/C] NM_014728 FRMPD4 EXON Missense_A642V exm1628384 X 12734650 [T/G] NM_014728 FRMPD4 EXON Missense_G691V exm1628389 X 12734778 [T/C] NM_014728 FRMPD4 EXON Missense_P734S exm1628393 X 12734967 [A/G] NM_014728 FRMPD4 EXON Missense_D797N exm1628401 X 12735177 [A/G] NM_014728 FRMPD4 EXON Missense_N867D exm1628415 X 12735829 [A/G] NM_014728 FRMPD4 EXON Missense_G962S exm2204331 X 12735859 [T/G] NM_014728 FRMPD4 EXON Missense_A972S exm2204336 X 12736373 [T/G] NM_014728 FRMPD4 EXON Missense_G1143V exm1628431 X 12736383 [A/C] NM_014728 FRMPD4 EXON Missense_Q1146H exm1628447 X 12736648 [A/G] NM_014728 FRMPD4 EXON Missense_V1235M exm1628448 X 12736658 [T/C] NM_014728 FRMPD4 EXON Missense_P1238L exm1628548 X 12903659 [T/A] NM_016562 TLR7 EXON Missense_Q11L exm1628554 X 12903875 [T/C] NM_016562 TLR7 EXON Missense_A83V exm1628561 X 12904007 [T/C] NM_016562 TLR7 EXON Missense_T127I exm1628567 X 12904282 [A/G] NM_016562 TLR7 EXON Missense_V219I exm1628568 X 12904292 [T/A] NM_016562 TLR7 EXON Missense_V222D exm1628585 X 12904970 [T/C] NM_016562 TLR7 EXON Missense_A448V exm1628587 X 12905093 [A/C] NM_016562 TLR7 EXON Missense_E489A exm1628605 X 12906412 [G/C] NM_016562 TLR7 EXON Missense_E929Q exm1628610 X 12906721 [A/G] NM_016562 TLR7 EXON Missense_A1032T exm1628618 X 12924826 [A/G] NR_030727,NM_138636 TLR8-AS1,TLR8 EXON Silent,Missense_M1V exm1628621 X 12937187 [A/G] NR_030727,NM_138636 TLR8-AS1,TLR8 EXON Silent,Missense_M10V exm1628622 X 12937211 [A/G] NR_030727,NM_138636 TLR8-AS1,TLR8 EXON Silent,Missense_I18V exm1628638 X 12937651 [C/G] NR_030727,NM_138636 TLR8-AS1,TLR8 EXON Silent,Missense_E164D exm1628650 X 12938344 [A/C] NR_030727,NM_138636 TLR8-AS1,TLR8 EXON Silent,Missense_N395K exm1628669 X 12939303 [A/G] NR_030727,NM_138636 TLR8-AS1,TLR8 EXON Silent,Missense_R715Q exm1628690 X 12940257 [A/T] NR_030727,NM_138636 TLR8-AS1,TLR8 EXON Silent,Missense_M1033K exm-rs5979785 X 12971524 [T/C] exm1628707 X 13058887 [A/G] NM_174901 FAM9C EXON Nonsense_Q107X exm1628710 X 13058934 [A/G] NM_174901 FAM9C EXON Missense_A91V exm1628711 X 13058967 [A/G] NM_174901 FAM9C EXON Missense_A80V exm1628721 X 13061284 [T/C] NM_174901 FAM9C EXON Missense_E49K exm2273089 X 13062722 [T/C] NM_174901 FAM9C EXON Silent exm2262750 X 13328666 [T/C] exm1628731 X 13337028 [T/G] NR_046087,NM_001135995 LOC100093698,ATXN3L EXON Silent,Missense_L342F exm1628733 X 13337051 [A/G] NR_046087,NM_001135995 LOC100093698,ATXN3L EXON Silent,Nonsense_Q335X exm1628734 X 13337059 [T/C] NR_046087,NM_001135995 LOC100093698,ATXN3L EXON Silent,Missense_G332D exm1628740 X 13337258 [A/G] NR_046087,NM_001135995 LOC100093698,ATXN3L EXON Silent,Missense_L266F exm1628744 X 13337363 [T/C] NR_046087,NM_001135995 LOC100093698,ATXN3L EXON Silent,Missense_R231G exm1628747 X 13337563 [A/G] NR_046087,NM_001135995 LOC100093698,ATXN3L EXON Silent,Missense_V164A exm1628754 X 13337747 [T/C] NR_046087,NM_001135995 LOC100093698,ATXN3L EXON Silent,Missense_G103S exm2205011 X 13337806 [A/G] NR_046087,NM_001135995 LOC100093698,ATXN3L EXON Silent,Missense_A83V exm1628757 X 13337978 [A/C] NR_046087,NM_001135995 LOC100093698,ATXN3L EXON Silent,Nonsense_E26X exm1628760 X 13607676 [C/G] NM_001167890,NM_015507 EGFL6,EGFL6 EXON Missense_A26P,Missense_A26P exm1628765 X 13612963 [A/G] NM_001167890,NM_015507 EGFL6,EGFL6 EXON Missense_E66K,Missense_E66K exm1628767 X 13612990 [A/G] NM_001167890,NM_015507 EGFL6,EGFL6 EXON Missense_V75M,Missense_V75M exm2262754 X 13615118 [A/G] NM_001167890,NM_015507 EGFL6,EGFL6 Silent,Silent exm1628771 X 13618120 [T/C] NM_001167890,NM_015507 EGFL6,EGFL6 EXON Missense_R103W,Missense_R103W exm1628780 X 13621525 [T/C] NM_001167890,NM_015507 EGFL6,EGFL6 EXON Missense_R164C,Missense_R164C exm2205498 X 13624615 [A/G] NM_001167890,NM_015507 EGFL6,EGFL6 EXON Missense_G213E,Missense_G213E exm1628789 X 13624630 [A/T] NM_001167890,NM_015507 EGFL6,EGFL6 EXON Missense_I218K,Missense_I218K exm1628791 X 13626473 [T/C] NM_001167890,NM_015507 EGFL6,EGFL6 EXON Missense_T229M,Missense_T229M exm1628806 X 13637303 [A/G] NM_001167890,NM_015507 EGFL6,EGFL6 EXON Missense_G375D,Missense_G375D exm1628807 X 13637306 [A/G] NM_001167890,NM_015507 EGFL6,EGFL6 EXON Missense_E376G,Missense_E376G exm1628808 X 13637312 [C/G] NM_001167890,NM_015507 EGFL6,EGFL6 EXON Missense_G378A,Missense_G378A exm2262971 X 13643346 [A/C] NM_001167890,NM_015507 EGFL6,EGFL6 Silent,Silent exm1628815 X 13645181 [T/C] NM_001167890,NM_015507 EGFL6,EGFL6 EXON Missense_I447T,Missense_I446T exm1628821 X 13645368 [T/G] NM_001167890,NM_015507 EGFL6,EGFL6 EXON Missense_L509F,Missense_L508F exm1628823 X 13651155 [A/G] NM_001167890,NM_015507 EGFL6,EGFL6 EXON Missense_D536N,Missense_D535N exm1628837 X 13680941 [T/C] NM_152634 TCEANC EXON Missense_P135L exm1628843 X 13681115 [T/C] NM_152634 TCEANC EXON Missense_S193L exm1628854 X 13681592 [A/G] NM_152634 TCEANC EXON Missense_R352Q exm1628855 X 13681602 [C/G] NM_152634 TCEANC EXON Missense_N355K exm1628859 X 13681679 [T/G] NM_152634 TCEANC EXON Missense_W381L exm1628892 X 13757007 [A/C] NM_003611 OFD1 EXON Missense_P119T exm1628898 X 13762597 [T/C] NM_003611 OFD1 EXON Missense_M159T exm1628924 X 13774769 [A/G] NM_003611 OFD1 EXON Missense_K432E exm1628930 X 13775827 [A/G] NM_003611 OFD1 EXON Missense_R487Q exm1628942 X 13778455 [C/G] NM_003611 OFD1 EXON Missense_E626Q exm2205555 X 13778509 [T/C] NM_003611 OFD1 EXON Missense_R644C exm1628956 X 13780473 [A/G] NM_003611 OFD1 EXON Missense_R800G exm1628959 X 13781899 [A/G] NM_003611 OFD1 EXON Missense_G842R exm1628996 X 13797938 [A/G] NM_001001995,NM_001001994,NM_001001996,NM_005278 GPM6B,GPM6B,GPM6B,GPM6B EXON Synonymous_Y232Y,Synonymous_Y173Y,Synonymous_Y232Y,Synonymous_Y192Y exm1628998 X 13797993 [A/G] NM_001001995,NM_001001994,NM_001001996,NM_005278 GPM6B,GPM6B,GPM6B,GPM6B EXON Missense_P214L,Missense_P155L,Missense_P214L,Missense_P174L exm1629013 X 13825830 [G/C] NM_001001995,NM_001001994,NM_001001996,NM_005278 GPM6B,GPM6B,GPM6B,GPM6B EXON Missense_K40N,Silent,Missense_K40N,Silent exm2268455 X 13857924 [A/G] NM_001001994 GPM6B Silent exm1629022 X 14027177 [T/A] NM_017856,NM_001042479,NM_001042480 GEMIN8,GEMIN8,GEMIN8 EXON Missense_E195V,Missense_E195V,Missense_E195V exm1629025 X 14027247 [T/C] NM_017856,NM_001042479,NM_001042480 GEMIN8,GEMIN8,GEMIN8 EXON Missense_V172M,Missense_V172M,Missense_V172M exm2273090 X 14538579 [T/C] exm2262768 X 14610033 [A/G] NM_001171942,NM_001118886,NM_002063,NM_001118885 GLRA2,GLRA2,GLRA2,GLRA2 Silent,Silent,Silent,Silent exm1629073 X 14748420 [T/C] NM_001171942,NM_001118886,NM_002063,NM_001118885 GLRA2,GLRA2,GLRA2,GLRA2 EXON Missense_A302V,Missense_A391V,Missense_A391V,Missense_A391V exm1629078 X 14748509 [A/G] NM_001171942,NM_001118886,NM_002063,NM_001118885 GLRA2,GLRA2,GLRA2,GLRA2 EXON Missense_I332V,Missense_I421V,Missense_I421V,Missense_I421V exm1629085 X 14861792 [A/G] NM_152633,NM_001018113 FANCB,FANCB EXON Missense_T826M,Missense_T826M exm1629086 X 14861817 [T/C] NM_152633,NM_001018113 FANCB,FANCB EXON Missense_R818G,Missense_R818G exm1629095 X 14862700 [A/G] NM_152633,NM_001018113 FANCB,FANCB EXON Missense_P697L,Missense_P697L exm1629096 X 14862794 [T/C] NM_152633,NM_001018113 FANCB,FANCB EXON Missense_G666S,Missense_G666S exm1629102 X 14863136 [A/G] NM_152633,NM_001018113 FANCB,FANCB EXON Missense_F590S,Missense_F590S exm1629106 X 14863247 [A/G] NM_152633,NM_001018113 FANCB,FANCB EXON Missense_T553M,Missense_T553M exm1629114 X 14868750 [T/C] NM_152633,NM_001018113 FANCB,FANCB EXON Missense_H458R,Missense_H458R exm1629120 X 14876041 [T/A] NM_152633,NM_001018113 FANCB,FANCB EXON Missense_F380L,Missense_F380L exm1629125 X 14877341 [A/G] NM_152633,NM_001018113 FANCB,FANCB EXON Missense_S356L,Missense_S356L exm1629126 X 14877404 [T/C] NM_152633,NM_001018113 FANCB,FANCB EXON Missense_G335E,Missense_G335E exm1629127 X 14877419 [A/G] NM_152633,NM_001018113 FANCB,FANCB EXON Missense_I330T,Missense_I330T exm1629133 X 14882945 [A/G] NM_152633,NM_001018113 FANCB,FANCB EXON Missense_P230S,Missense_P230S exm2248647 X 14913436 [A/G] NM_152581,NM_001177475 MOSPD2,MOSPD2 EXON Missense_N81S,Missense_N18S exm1629171 X 14929375 [A/G] NM_152581,NM_001177475 MOSPD2,MOSPD2 EXON Missense_S240N,Missense_S177N exm1629177 X 14932651 [A/G] NM_152581,NM_001177475 MOSPD2,MOSPD2 EXON Missense_S340N,Missense_S277N exm2268456 X 15265457 [A/G] NM_024087,NM_001168531,NM_001168530,NM_001031739 ASB9,ASB9,ASB9,ASB9 Silent,Silent,Silent,Silent exm1629207 X 15268635 [T/C] NM_024087,NM_001168531,NM_001168530,NM_001031739 ASB9,ASB9,ASB9,ASB9 EXON Missense_H162R,Missense_H162R,Missense_H152R,Missense_H162R exm1629214 X 15287907 [A/C] NM_024087,NM_001168531,NM_001168530,NM_001031739 ASB9,ASB9,ASB9,ASB9 EXON Missense_M30I,Missense_M30I,Missense_M30I,Missense_M30I exm1629230 X 15301713 [A/G] NM_001012428,NM_001201583,NM_080873 ASB11,ASB11,ASB11 EXON Missense_R275W,Missense_R279W,Missense_R296W exm1629236 X 15306063 [T/C] NM_001012428,NM_001201583,NM_080873 ASB11,ASB11,ASB11 EXON Missense_S242G,Missense_S246G,Missense_S263G exm1629238 X 15306105 [T/C] NM_001012428,NM_001201583,NM_080873 ASB11,ASB11,ASB11 EXON Missense_D228N,Missense_D232N,Missense_D249N exm1629240 X 15307659 [T/A] NM_001012428,NM_001201583,NM_080873 ASB11,ASB11,ASB11 EXON Missense_R187W,Missense_R191W,Missense_R208W exm1629243 X 15307752 [T/C] NM_001012428,NM_001201583,NM_080873 ASB11,ASB11,ASB11 EXON Missense_E156K,Missense_E160K,Missense_E177K exm1629245 X 15311318 [A/G] NM_001012428,NM_001201583,NM_080873 ASB11,ASB11,ASB11 EXON Missense_S144L,Missense_S148L,Missense_S165L exm1629253 X 15315789 [T/G] NM_001012428,NM_001201583,NM_080873 ASB11,ASB11,ASB11 EXON Missense_N71K,Silent,Missense_N92K exm1629265 X 15333546 [T/C] NM_001201583,NM_080873 ASB11,ASB11 Silent,Silent exm1629273 X 15333714 [A/G] NM_001201583,NM_080873 ASB11,ASB11 EXON Missense_P5L,Missense_P5L exm1629280 X 15339663 [T/C] NR_033835,NR_033836,NM_002641,NM_020473 PIGA,PIGA,PIGA,PIGA EXON Silent,Silent,Missense_G474R,Missense_G240R exm1629291 X 15343246 [T/C] NR_033835,NR_033836,NM_002641,NM_020473 PIGA,PIGA,PIGA,PIGA EXON Silent,Silent,Missense_K293E,Missense_K59E exm1629306 X 15349998 [A/G] NR_033835,NR_033836,NM_002641,NM_020473 PIGA,PIGA,PIGA,PIGA EXON Silent,Silent,Missense_R19W,Silent exm1629314 X 15364358 [T/C] NR_037859,NM_004469 PIR-FIGF,FIGF EXON Silent,Missense_H321R exm1629319 X 15365421 [T/C] NR_037859,NM_004469 PIR-FIGF,FIGF EXON Silent,Missense_R268H exm1629321 X 15365438 [T/C] NR_037859,NM_004469 PIR-FIGF,FIGF EXON Silent,Missense_M262I exm1629336 X 15376214 [C/G] NR_037859,NM_004469 PIR-FIGF,FIGF EXON Silent,Missense_P135A exm1629337 X 15376265 [T/C] NR_037859,NM_004469 PIR-FIGF,FIGF EXON Silent,Missense_V118M exm2208132 X 15376294 [T/C] NR_037859,NM_004469 PIR-FIGF,FIGF EXON Silent,Missense_R108K exm1629358 X 15408373 [T/C] NR_037859,NM_001018109,NM_003662 PIR-FIGF,PIR,PIR EXON Silent,Missense_D232N,Missense_D232N exm1629364 X 15415581 [A/G] NR_037859,NM_001018109,NM_003662 PIR-FIGF,PIR,PIR EXON Silent,Missense_V228A,Missense_V228A exm1629370 X 15425651 [A/G] NR_037859,NM_001018109,NM_003662 PIR-FIGF,PIR,PIR EXON Silent,Missense_T196M,Missense_T196M exm1629375 X 15474063 [A/G] NR_037859,NM_001018109,NM_003662 PIR-FIGF,PIR,PIR EXON Silent,Nonsense_Q130X,Nonsense_Q130X exm1629376 X 15474123 [T/G] NR_037859,NM_001018109,NM_003662 PIR-FIGF,PIR,PIR EXON Silent,Missense_P110T,Missense_P110T exm1629377 X 15474134 [A/C] NR_037859,NM_001018109,NM_003662 PIR-FIGF,PIR,PIR EXON Silent,Missense_C106F,Missense_C106F exm1629380 X 15474162 [A/G] NR_037859,NM_001018109,NM_003662 PIR-FIGF,PIR,PIR EXON Silent,Missense_R97W,Missense_R97W exm1629382 X 15474167 [A/G] NR_037859,NM_001018109,NM_003662 PIR-FIGF,PIR,PIR EXON Silent,Missense_A95V,Missense_A95V exm1629388 X 15509313 [G/C] NR_037859,NM_001018109,NM_003662 PIR-FIGF,PIR,PIR EXON Silent,Missense_R23T,Missense_R23T exm1629390 X 15509316 [A/G] NR_037859,NM_001018109,NM_003662 PIR-FIGF,PIR,PIR EXON Silent,Missense_A22V,Missense_A22V exm2273231 X 15537239 [T/C] NM_203281,NM_001721 BMX,BMX Silent,Silent exm1629411 X 15540517 [T/C] NM_203281,NM_001721 BMX,BMX EXON Missense_S187P,Missense_S187P exm1629413 X 15540593 [G/C] NM_203281,NM_001721 BMX,BMX EXON Missense_S212T,Missense_S212T exm1629414 X 15540598 [A/G] NM_203281,NM_001721 BMX,BMX EXON Missense_A214T,Missense_A214T exm1629415 X 15540599 [T/C] NM_203281,NM_001721 BMX,BMX EXON Missense_A214V,Missense_A214V exm1629424 X 15544185 [T/C] NM_203281,NM_001721 BMX,BMX EXON Missense_S284L,Missense_S284L exm1629434 X 15555299 [A/C] NM_203281,NM_001721 BMX,BMX EXON Missense_E422A,Missense_E422A exm1629459 X 15582265 [A/G] NM_021804 ACE2 EXON Missense_L731F exm1629461 X 15582298 [T/C] NM_021804 ACE2 EXON Missense_N720D exm1629465 X 15584416 [A/G] NM_021804 ACE2 EXON Missense_S692P exm1629472 X 15588474 [A/C] NM_021804 ACE2 EXON Missense_A614S exm1629477 X 15589839 [T/C] NM_021804 ACE2 EXON Missense_R582K exm2208516 X 15593829 [T/C] NM_021804 ACE2 EXON Missense_I468V exm1629485 X 15599392 [T/C] NM_021804 ACE2 EXON Missense_K341R exm1629486 X 15599428 [T/C] NM_021804 ACE2 EXON Missense_E329G exm2208524 X 15605891 [A/G] NM_021804 ACE2 EXON Missense_P263S exm1629497 X 15607532 [T/C] NM_021804 ACE2 EXON Missense_G211R exm1629498 X 15607546 [T/C] NM_021804 ACE2 EXON Missense_D206G exm1629508 X 15618958 [T/C] NM_021804 ACE2 EXON Missense_K26R exm1629509 X 15618980 [A/G] NM_021804 ACE2 EXON Missense_S19P exm1629513 X 15646244 [C/G] NM_020665 TMEM27 EXON Missense_N173K exm1629532 X 15682886 [C/G] NM_020665 TMEM27 EXON Missense_L5V exm1629534 X 15768206 [A/G] NM_007220 CA5B EXON Nonsense_W20X exm1629553 X 15790727 [T/C] NM_007220 CA5B EXON Missense_F150S exm2208554 X 15793420 [A/G] NM_007220 CA5B EXON Missense_I203V exm1629566 X 15800678 [A/G] NM_007220 CA5B EXON Missense_R282H exm1629576 X 15818028 [T/G] NM_005089 ZRSR2 EXON Missense_F52C exm2208566 X 15821890 [A/G] NM_005089 ZRSR2 EXON Missense_A95T exm1629580 X 15821902 [T/C] NM_005089 ZRSR2 EXON Missense_R99W exm1629611 X 15864026 [A/G] NM_003916,NM_001272071 AP1S2,AP1S2 EXON Synonymous_S96S,Synonymous_S96S exm2268457 X 15934143 [A/G] exm1629621 X 16142186 [T/C] NM_005314 GRPR EXON Missense_P37L exm1629636 X 16168555 [T/C] NM_005314 GRPR EXON Missense_L181F exm1629639 X 16168672 [A/G] NM_005314 GRPR EXON Missense_V220I exm2208610 X 16168706 [A/G] NM_005314 GRPR EXON Missense_Y231C exm2273091 X 16555937 [T/C] exm1629680 X 16669120 [A/G] NM_001144002,NM_175859,NM_019857,NM_004057 CTPS2,CTPS2,CTPS2,S100G Silent,Silent,Silent,Silent exm1629681 X 16669123 [T/C] NM_001144002,NM_175859,NM_019857,NM_004057 CTPS2,CTPS2,CTPS2,S100G EXON Silent,Silent,Silent,Silent exm1629685 X 16672528 [C/G] NM_001144002,NM_175859,NM_019857,NM_004057 CTPS2,CTPS2,CTPS2,S100G EXON Silent,Silent,Silent,Missense_G46R exm2268570 X 16696005 [A/G] NM_001144002,NM_175859,NM_019857 CTPS2,CTPS2,CTPS2 Silent,Silent,Silent exm1629695 X 16696536 [A/G] NM_001144002,NM_175859,NM_019857 CTPS2,CTPS2,CTPS2 EXON Missense_T348I,Missense_T348I,Missense_T348I exm1629698 X 16701279 [T/C] NM_001144002,NM_175859,NM_019857 CTPS2,CTPS2,CTPS2 EXON Missense_A315T,Missense_A315T,Missense_A315T exm1629712 X 16717075 [T/C] NM_001144002,NM_175859,NM_019857 CTPS2,CTPS2,CTPS2 EXON Missense_R103H,Missense_R103H,Missense_R103H exm1629718 X 16737903 [A/G] NM_032796,NR_033181 SYAP1,SYAP1 EXON Missense_G19E,Silent exm1629724 X 16737968 [A/G] NM_032796,NR_033181 SYAP1,SYAP1 EXON Missense_E41K,Silent exm1629734 X 16761950 [G/C] NM_032796,NR_033181 SYAP1,SYAP1 EXON Missense_L188V,Silent exm1629741 X 16775379 [A/C] NM_032796,NR_033181 SYAP1,SYAP1 EXON Missense_E293A,Silent exm1629745 X 16804627 [A/G] NM_018360,NM_001168683 TXLNG,TXLNG EXON Missense_E6G,Missense_E6G exm1629755 X 16846277 [A/G] NM_018360,NM_001168683 TXLNG,TXLNG EXON Missense_I187V,Missense_I55V exm1629763 X 16847765 [A/G] NM_018360,NM_001168683 TXLNG,TXLNG EXON Missense_I246V,Missense_I114V exm1629780 X 16859573 [A/G] NM_018360,NM_001168683 TXLNG,TXLNG EXON Missense_Y424C,Missense_Y292C exm1629783 X 16859596 [G/C] NM_018360,NM_001168683 TXLNG,TXLNG EXON Missense_E432Q,Missense_E300Q exm1629792 X 16859829 [A/C] NM_018360,NM_001168683 TXLNG,TXLNG EXON Missense_R509S,Missense_R377S exm1629797 X 16859867 [T/C] NM_018360,NM_001168683 TXLNG,TXLNG EXON Missense_P522L,Missense_P390L exm1629798 X 16859879 [T/C] NM_018360,NM_001168683 TXLNG,TXLNG EXON Missense_S526L,Missense_S394L exm1629824 X 16881125 [T/C] NM_001198719,NM_002893 RBBP7,RBBP7 EXON Missense_N131S,Missense_N87S exm1629830 X 16887655 [T/C] NM_001198719,NM_002893 RBBP7,RBBP7 EXON Missense_R37H,Silent exm2263016 X 16905630 [T/C] exm1629852 X 17047675 [T/G] NM_004726,NM_001080975 REPS2,REPS2 EXON Missense_V234F,Missense_V233F exm1629854 X 17047697 [T/C] NM_004726,NM_001080975 REPS2,REPS2 EXON Missense_S241L,Missense_S240L exm1629865 X 17080618 [T/C] NM_004726,NM_001080975 REPS2,REPS2 EXON Missense_P391L,Missense_P390L exm1629871 X 17088077 [A/G] NM_004726,NM_001080975 REPS2,REPS2 EXON Missense_I432V,Missense_I431V exm1629907 X 17653697 [T/C] NM_198270,NM_001136024 NHS,NHS EXON Silent,Missense_A4V exm1629909 X 17705864 [A/G] NM_198270,NM_001136024 NHS,NHS EXON Missense_V190I,Missense_V13I exm1629912 X 17705927 [T/C] NM_198270,NM_001136024 NHS,NHS EXON Missense_R211C,Missense_R34C exm1629914 X 17705940 [T/C] NM_198270,NM_001136024 NHS,NHS EXON Missense_L215P,Missense_L38P exm1629917 X 17705984 [A/G] NM_198270,NM_001136024 NHS,NHS EXON Missense_A230T,Missense_A53T exm1629925 X 17710587 [T/C] NM_198270,NM_001136024 NHS,NHS EXON Missense_T284M,Missense_T107M exm1629932 X 17742473 [T/C] NM_198270,NM_001136024 NHS,NHS EXON Missense_S367L,Missense_S211L exm1629943 X 17743940 [T/C] NM_198270,NM_001136024 NHS,NHS EXON Missense_P551S,Missense_P395S exm1629957 X 17744319 [A/G] NM_198270,NM_001136024 NHS,NHS EXON Missense_R677Q,Missense_R521Q exm2208794 X 17744345 [T/G] NM_198270,NM_001136024 NHS,NHS EXON Missense_A686S,Missense_A530S exm1629961 X 17744556 [T/C] NM_198270,NM_001136024 NHS,NHS EXON Missense_F756S,Missense_F600S exm1629969 X 17744819 [A/G] NM_198270,NM_001136024 NHS,NHS EXON Missense_A844T,Missense_A688T exm1629973 X 17744979 [A/G] NM_198270,NM_001136024 NHS,NHS EXON Missense_S897N,Missense_S741N exm1629981 X 17745303 [A/C] NM_198270,NM_001136024 NHS,NHS EXON Nonsense_S1005X,Nonsense_S849X exm1629984 X 17745441 [T/C] NM_198270,NM_001136024 NHS,NHS EXON Missense_T1051I,Missense_T895I exm1629987 X 17745600 [T/C] NM_198270,NM_001136024 NHS,NHS EXON Missense_S1104L,Missense_S948L exm1629989 X 17745741 [T/C] NM_198270,NM_001136024 NHS,NHS EXON Missense_T1151M,Missense_T995M exm1629991 X 17745771 [T/C] NM_198270,NM_001136024 NHS,NHS EXON Missense_P1161L,Missense_P1005L exm1629993 X 17745872 [T/C] NM_198270,NM_001136024 NHS,NHS EXON Missense_H1195Y,Missense_H1039Y exm2248727 X 17746122 [T/C] NM_198270,NM_001136024 NHS,NHS EXON Missense_T1278I,Missense_T1122I exm1630000 X 17746155 [T/G] NM_198270,NM_001136024 NHS,NHS EXON Missense_G1289V,Missense_G1133V exm1630005 X 17746244 [T/C] NM_198270,NM_001136024 NHS,NHS EXON Missense_F1319L,Missense_F1163L exm2208801 X 17746256 [T/C] NM_198270,NM_001136024 NHS,NHS EXON Missense_F1323L,Missense_F1167L exm1630020 X 17750064 [A/G] NM_198270,NM_001136024 NHS,NHS EXON Missense_S1458N,Missense_S1302N exm1630024 X 17750294 [A/T] NM_198270,NM_001136024 NHS,NHS EXON Missense_S1535T,Missense_S1379T exm1630035 X 17767602 [T/C] NM_001037535,NM_006746,NM_001037536,NM_001037540 SCML1,SCML1,SCML1,SCML1 EXON Silent,Missense_A67V,Silent,Missense_A94V exm1630039 X 17768050 [T/G] NM_001037535,NM_006746,NM_001037536,NM_001037540 SCML1,SCML1,SCML1,SCML1 EXON Silent,Missense_V87F,Silent,Missense_V114F exm1630044 X 17768315 [T/C] NM_001037535,NM_006746,NM_001037536,NM_001037540 SCML1,SCML1,SCML1,SCML1 EXON Missense_T81M,Missense_T175M,Missense_T81M,Missense_T202M exm1630055 X 17818594 [T/C] NM_001172732,NM_001172743,NM_001172739,NR_033348,NM_021785,NR_033349 RAI2,RAI2,RAI2,RAI2,RAI2,RAI2 EXON Missense_I463V,Missense_I513V,Missense_I513V,Silent,Missense_I513V,Silent exm1630059 X 17818711 [T/C] NM_001172732,NM_001172743,NM_001172739,NR_033348,NM_021785,NR_033349 RAI2,RAI2,RAI2,RAI2,RAI2,RAI2 EXON Missense_V424M,Missense_V474M,Missense_V474M,Silent,Missense_V474M,Silent exm1630069 X 17818947 [A/G] NM_001172732,NM_001172743,NM_001172739,NR_033348,NM_021785,NR_033349 RAI2,RAI2,RAI2,RAI2,RAI2,RAI2 EXON Missense_P345L,Missense_P395L,Missense_P395L,Silent,Missense_P395L,Silent exm1630070 X 17818953 [T/G] NM_001172732,NM_001172743,NM_001172739,NR_033348,NM_021785,NR_033349 RAI2,RAI2,RAI2,RAI2,RAI2,RAI2 EXON Missense_E343A,Missense_E393A,Missense_E393A,Silent,Missense_E393A,Silent exm1630088 X 17819358 [A/G] NM_001172732,NM_001172743,NM_001172739,NR_033348,NM_021785,NR_033349 RAI2,RAI2,RAI2,RAI2,RAI2,RAI2 EXON Missense_S208F,Missense_S258F,Missense_S258F,Silent,Missense_S258F,Silent exm1630089 X 17819377 [T/C] NM_001172732,NM_001172743,NM_001172739,NR_033348,NM_021785,NR_033349 RAI2,RAI2,RAI2,RAI2,RAI2,RAI2 EXON Missense_M202V,Missense_M252V,Missense_M252V,Silent,Missense_M252V,Silent exm1630098 X 17819794 [T/C] NM_001172732,NM_001172743,NM_001172739,NR_033348,NM_021785,NR_033349 RAI2,RAI2,RAI2,RAI2,RAI2,RAI2 EXON Missense_V63I,Missense_V113I,Missense_V113I,Silent,Missense_V113I,Silent exm2268571 X 18001287 [A/G] exm2263019 X 18033806 [T/C] exm1630140 X 18194105 [A/C] NM_153346,NM_001184767 BEND2,BEND2 EXON Missense_G580V,Missense_G489V exm1630151 X 18198717 [T/C] NM_153346,NM_001184767 BEND2,BEND2 EXON Missense_V448I,Missense_V357I exm1630160 X 18209192 [T/C] NM_153346,NM_001184767 BEND2,BEND2 EXON Missense_Y406C,Missense_Y315C exm1630173 X 18221746 [A/C] NM_153346,NM_001184767 BEND2,BEND2 EXON Missense_V261G,Missense_V261G exm2248728 X 18221837 [T/C] NM_153346,NM_001184767 BEND2,BEND2 EXON Missense_G231S,Missense_G231S exm1630176 X 18221934 [A/C] NM_153346,NM_001184767 BEND2,BEND2 EXON Missense_Q198H,Missense_Q198H exm1630177 X 18221942 [T/C] NM_153346,NM_001184767 BEND2,BEND2 EXON Missense_E196K,Missense_E196K exm1630178 X 18221980 [A/C] NM_153346,NM_001184767 BEND2,BEND2 EXON Missense_S183I,Missense_S183I exm1630179 X 18222023 [T/C] NM_153346,NM_001184767 BEND2,BEND2 EXON Missense_I169V,Missense_I169V exm1630182 X 18230715 [A/C] NM_153346,NM_001184767 BEND2,BEND2 EXON Missense_F154L,Missense_F154L exm1630202 X 18275054 [T/C] NM_006089,NR_033717 SCML2,SCML2 EXON Missense_Q457R,Silent exm1630211 X 18283742 [A/G] NM_006089,NR_033717 SCML2,SCML2 EXON Missense_I304T,Silent exm1630232 X 18348739 [A/G] NM_006089,NR_033717 SCML2,SCML2 EXON Missense_T20I,Silent exm1630280 X 18622567 [T/C] NM_003159,NM_001037343 CDKL5,CDKL5 EXON Missense_I508T,Missense_I508T exm1630286 X 18622765 [T/C] NM_003159,NM_001037343 CDKL5,CDKL5 EXON Missense_P574L,Missense_P574L exm1630289 X 18622936 [T/C] NM_003159,NM_001037343 CDKL5,CDKL5 EXON Missense_I631T,Missense_I631T exm1630299 X 18638082 [A/C] NM_003159,NM_001037343 CDKL5,CDKL5 EXON Missense_Q791P,Missense_Q791P exm1630323 X 18660251 [A/G] NM_003159,NM_001037343,NM_000330 CDKL5,CDKL5,RS1 EXON Silent,Silent,Missense_T183I exm1630326 X 18662639 [T/C] NM_003159,NM_001037343,NM_000330 CDKL5,CDKL5,RS1 EXON Silent,Silent,Missense_D145N exm1630335 X 18665342 [T/C] NM_003159,NM_001037343,NM_000330 CDKL5,CDKL5,RS1 EXON Silent,Silent,Missense_N99D exm1630345 X 18668586 [T/C] NM_003159,NM_001037343,NM_000330 CDKL5,CDKL5,RS1 EXON Nonsense_R952X,Nonsense_R952X,Silent exm1630351 X 18671566 [A/G] NM_003159,NM_001037343,NM_000330 CDKL5,CDKL5,RS1 EXON Missense_V999M,Missense_V999M,Silent exm1630362 X 18675762 [T/C] NM_000330 RS1 EXON Missense_E26K exm2263020 X 18707857 [A/G] exm1630368 X 18767945 [T/A] NM_006240,NM_152226,NM_152224 PPEF1,PPEF1,PPEF1 EXON Missense_M91L,Missense_M91L,Missense_M91L exm2248730 X 18768030 [T/C] NM_006240,NM_152226,NM_152224 PPEF1,PPEF1,PPEF1 EXON Missense_T119M,Missense_T119M,Missense_T119M exm1630386 X 18802071 [A/G] NM_006240,NM_152226,NM_152224 PPEF1,PPEF1,PPEF1 EXON Missense_I273V,Missense_I273V,Missense_I273V exm1630396 X 18824596 [A/G] NM_006240,NM_152226,NM_152224 PPEF1,PPEF1,PPEF1 EXON Missense_G443S,Missense_G381S,Missense_G415S exm1630413 X 18911767 [T/C] NR_029379,NM_000292 PHKA2-AS1,PHKA2 EXON Silent,Missense_I1182V exm1630415 X 18912350 [A/G] NR_029379,NM_000292 PHKA2-AS1,PHKA2 EXON Silent,Missense_M1170T exm1630439 X 18915319 [T/C] NM_000292 PHKA2 EXON Missense_V1082M exm1630461 X 18919674 [T/C] NM_000292 PHKA2 EXON Missense_E986K exm1630483 X 18926131 [T/C] NM_000292 PHKA2 EXON Missense_T802A exm1630497 X 18929013 [A/C] NM_000292 PHKA2 EXON Missense_S735A exm1630501 X 18929070 [T/C] NM_000292 PHKA2 EXON Missense_M716V exm1630503 X 18936859 [T/C] NM_000292 PHKA2 EXON Missense_I693V exm1630508 X 18938161 [T/G] NM_000292 PHKA2 EXON Missense_T651N exm1630522 X 18942543 [G/C] NM_000292 PHKA2 EXON Missense_T557R exm1630523 X 18942556 [A/G] NM_000292 PHKA2 EXON Missense_C553R exm1630525 X 18942578 [G/C] NM_000292 PHKA2 EXON Missense_I545M exm1630528 X 18942634 [C/G] NM_000292 PHKA2 EXON Missense_Q527E exm1630537 X 18943862 [A/G] NM_000292 PHKA2 EXON Missense_P498L exm1630545 X 18944634 [T/C] NM_000292 PHKA2 EXON Missense_A466T exm1630551 X 18947424 [T/C] NM_000292 PHKA2 EXON Missense_G416R exm1630568 X 18959726 [A/C] NM_000292 PHKA2 EXON Missense_I262S exm1630576 X 18966927 [T/C] NM_000292 PHKA2 EXON Missense_T158A exm1630587 X 18972497 [G/C] NM_000292 PHKA2 EXON Missense_E38Q exm1630606 X 19014186 [T/C] NM_001184836,NM_001184833,NM_001184834,NM_005756,NM_001184837,NM_001079858,NM_001079860,NM_001079859,NM_001184835 GPR64,GPR64,GPR64,GPR64,GPR64,GPR64,GPR64,GPR64,GPR64 EXON Missense_R876Q,Missense_R884Q,Missense_R900Q,Missense_R897Q,Missense_R870Q,Missense_R900Q,Missense_R878Q,Missense_R886Q,Missense_R862Q exm1630608 X 19014210 [T/C] NM_001184836,NM_001184833,NM_001184834,NM_005756,NM_001184837,NM_001079858,NM_001079860,NM_001079859,NM_001184835 GPR64,GPR64,GPR64,GPR64,GPR64,GPR64,GPR64,GPR64,GPR64 EXON Missense_R868Q,Missense_R876Q,Missense_R892Q,Missense_R889Q,Missense_R862Q,Missense_R892Q,Missense_R870Q,Missense_R878Q,Missense_R854Q exm1630613 X 19017369 [A/G] NM_001184836,NM_001184833,NM_001184834,NM_005756,NM_001184837,NM_001079858,NM_001079860,NM_001079859,NM_001184835 GPR64,GPR64,GPR64,GPR64,GPR64,GPR64,GPR64,GPR64,GPR64 EXON Missense_Y763H,Missense_Y771H,Missense_Y787H,Missense_Y784H,Missense_Y757H,Missense_Y787H,Missense_Y765H,Missense_Y773H,Missense_Y749H exm1630622 X 19021186 [T/C] NM_001184836,NM_001184833,NM_001184834,NM_005756,NM_001184837,NM_001079858,NM_001079860,NM_001079859,NM_001184835 GPR64,GPR64,GPR64,GPR64,GPR64,GPR64,GPR64,GPR64,GPR64 EXON Missense_A646T,Missense_A654T,Missense_A670T,Missense_A667T,Missense_A640T,Missense_A670T,Missense_A648T,Missense_A656T,Missense_A632T exm1630626 X 19024136 [T/C] NM_001184836,NM_001184833,NM_001184834,NM_005756,NM_001184837,NM_001079858,NM_001079860,NM_001079859,NM_001184835 GPR64,GPR64,GPR64,GPR64,GPR64,GPR64,GPR64,GPR64,GPR64 EXON Missense_S584N,Missense_S592N,Missense_S608N,Missense_S605N,Missense_S578N,Missense_S608N,Missense_S586N,Missense_S594N,Missense_S570N exm1630633 X 19025409 [T/C] NM_001184836,NM_001184833,NM_001184834,NM_005756,NM_001184837,NM_001079858,NM_001079860,NM_001079859,NM_001184835 GPR64,GPR64,GPR64,GPR64,GPR64,GPR64,GPR64,GPR64,GPR64 EXON Missense_V521I,Missense_V529I,Missense_V545I,Missense_V542I,Missense_V515I,Missense_V545I,Missense_V523I,Missense_V531I,Missense_V507I exm1630639 X 19026126 [T/C] NM_001184836,NM_001184833,NM_001184834,NM_005756,NM_001184837,NM_001079858,NM_001079860,NM_001079859,NM_001184835 GPR64,GPR64,GPR64,GPR64,GPR64,GPR64,GPR64,GPR64,GPR64 EXON Missense_N489S,Missense_N497S,Missense_N513S,Missense_N510S,Missense_N483S,Missense_N513S,Missense_N491S,Missense_N499S,Missense_N475S exm1630646 X 19028751 [T/C] NM_001184836,NM_001184833,NM_001184834,NM_005756,NM_001184837,NM_001079858,NM_001079860,NM_001079859,NM_001184835 GPR64,GPR64,GPR64,GPR64,GPR64,GPR64,GPR64,GPR64,GPR64 EXON Missense_M391I,Missense_M399I,Missense_M415I,Missense_M412I,Missense_M385I,Missense_M415I,Missense_M393I,Missense_M401I,Missense_M377I exm1630657 X 19031986 [C/G] NM_001184836,NM_001184833,NM_001184834,NM_005756,NM_001184837,NM_001079858,NM_001079860,NM_001079859,NM_001184835 GPR64,GPR64,GPR64,GPR64,GPR64,GPR64,GPR64,GPR64,GPR64 EXON Missense_P282R,Missense_P290R,Missense_P306R,Missense_P303R,Missense_P276R,Missense_P306R,Missense_P284R,Missense_P292R,Missense_P268R exm1630660 X 19032033 [T/G] NM_001184836,NM_001184833,NM_001184834,NM_005756,NM_001184837,NM_001079858,NM_001079860,NM_001079859,NM_001184835 GPR64,GPR64,GPR64,GPR64,GPR64,GPR64,GPR64,GPR64,GPR64 EXON Missense_H266Q,Missense_H274Q,Missense_H290Q,Missense_H287Q,Missense_H260Q,Missense_H290Q,Missense_H268Q,Missense_H276Q,Missense_H252Q exm1630661 X 19032085 [A/G] NM_001184836,NM_001184833,NM_001184834,NM_005756,NM_001184837,NM_001079858,NM_001079860,NM_001079859,NM_001184835 GPR64,GPR64,GPR64,GPR64,GPR64,GPR64,GPR64,GPR64,GPR64 EXON Missense_V249A,Missense_V257A,Missense_V273A,Missense_V270A,Missense_V243A,Missense_V273A,Missense_V251A,Missense_V259A,Missense_V235A exm1630662 X 19032107 [A/G] NM_001184836,NM_001184833,NM_001184834,NM_005756,NM_001184837,NM_001079858,NM_001079860,NM_001079859,NM_001184835 GPR64,GPR64,GPR64,GPR64,GPR64,GPR64,GPR64,GPR64,GPR64 EXON Missense_R242W,Missense_R250W,Missense_R266W,Missense_R263W,Missense_R236W,Missense_R266W,Missense_R244W,Missense_R252W,Missense_R228W exm1630664 X 19032163 [T/G] NM_001184836,NM_001184833,NM_001184834,NM_005756,NM_001184837,NM_001079858,NM_001079860,NM_001079859,NM_001184835 GPR64,GPR64,GPR64,GPR64,GPR64,GPR64,GPR64,GPR64,GPR64 EXON Missense_A223D,Missense_A231D,Missense_A247D,Missense_A244D,Missense_A217D,Missense_A247D,Missense_A225D,Missense_A233D,Missense_A209D exm1630668 X 19037757 [A/G] NM_001184836,NM_001184833,NM_001184834,NM_005756,NM_001184837,NM_001079858,NM_001079860,NM_001079859,NM_001184835 GPR64,GPR64,GPR64,GPR64,GPR64,GPR64,GPR64,GPR64,GPR64 EXON Missense_P200S,Missense_P208S,Missense_P224S,Missense_P221S,Missense_P194S,Missense_P224S,Missense_P202S,Missense_P210S,Missense_P186S exm1630675 X 19041549 [T/G] NM_001184836,NM_001184833,NM_001184834,NM_005756,NM_001184837,NM_001079858,NM_001079860,NM_001079859,NM_001184835 GPR64,GPR64,GPR64,GPR64,GPR64,GPR64,GPR64,GPR64,GPR64 EXON Missense_T154K,Missense_T162K,Missense_T178K,Missense_T175K,Missense_T148K,Missense_T178K,Missense_T156K,Missense_T164K,Missense_T140K exm1630694 X 19086897 [A/G] NM_001184836,NM_001184833,NM_001184834,NM_005756,NM_001184837,NM_001079858,NM_001079860,NM_001079859,NM_001184835 GPR64,GPR64,GPR64,GPR64,GPR64,GPR64,GPR64,GPR64,GPR64 EXON Missense_L19P,Missense_L19P,Missense_L19P,Missense_L19P,Missense_L19P,Missense_L19P,Missense_L19P,Missense_L19P,Missense_L19P exm1630695 X 19086927 [T/C] NM_001184836,NM_001184833,NM_001184834,NM_005756,NM_001184837,NM_001079858,NM_001079860,NM_001079859,NM_001184835 GPR64,GPR64,GPR64,GPR64,GPR64,GPR64,GPR64,GPR64,GPR64 EXON Missense_G9D,Missense_G9D,Missense_G9D,Missense_G9D,Missense_G9D,Missense_G9D,Missense_G9D,Missense_G9D,Missense_G9D exm2268572 X 19247670 [A/G] exm1630709 X 19367469 [C/G] NM_001173455,NM_001173456,NM_000284,NM_001173454 PDHA1,PDHA1,PDHA1,PDHA1 EXON Missense_D33H,Missense_D33H,Missense_D33H,Missense_D71H exm1630738 X 19375782 [A/C] NM_001173455,NM_001173456,NM_000284,NM_001173454 PDHA1,PDHA1,PDHA1,PDHA1 EXON Missense_M289L,Missense_M251L,Missense_M282L,Missense_M320L exm1630744 X 19377133 [A/C] NM_001173455,NM_001173456,NM_000284,NM_001173454 PDHA1,PDHA1,PDHA1,PDHA1 EXON Missense_E340D,Missense_E302D,Missense_E333D,Missense_E371D exm1630751 X 19377712 [A/G] NM_001173455,NM_001173456,NM_000284,NM_001173454 PDHA1,PDHA1,PDHA1,PDHA1 EXON Missense_D379N,Missense_D341N,Missense_D372N,Missense_D410N exm1630752 X 19377757 [A/C] NM_001173455,NM_001173456,NM_000284,NM_001173454 PDHA1,PDHA1,PDHA1,PDHA1 EXON Missense_K394Q,Missense_K356Q,Missense_K387Q,Missense_K425Q exm1630760 X 19378903 [G/C] NM_001173455,NM_001173456,NM_000284,NM_001173454,NM_001001671 PDHA1,PDHA1,PDHA1,PDHA1,MAP3K15 EXON Silent,Silent,Silent,Silent,Missense_R1302S exm1630776 X 19379640 [C/G] NM_001173455,NM_001173456,NM_000284,NM_001173454,NM_001001671 PDHA1,PDHA1,PDHA1,PDHA1,MAP3K15 EXON Silent,Silent,Silent,Silent,Missense_Q1251E exm1630779 X 19380887 [G/C] NM_001001671 MAP3K15 EXON Missense_L1216F exm1630790 X 19387332 [A/G] NM_001001671 MAP3K15 EXON Nonsense_R1136X exm1630793 X 19389103 [T/A] NM_001001671 MAP3K15 EXON Missense_Q1125L exm1630795 X 19389113 [A/G] NM_001001671 MAP3K15 EXON Nonsense_R1122X exm1630802 X 19389543 [A/G] NM_001001671 MAP3K15 EXON Missense_S1072P exm1630806 X 19389602 [A/G] NM_001001671 MAP3K15 EXON Missense_I1052T exm1630811 X 19390794 [T/G] NM_001001671 MAP3K15 EXON Missense_N1029H exm1630813 X 19390895 [A/G] NM_001001671 MAP3K15 EXON Missense_P995L exm1630815 X 19390901 [A/G] NM_001001671 MAP3K15 EXON Missense_S993L exm1630830 X 19392615 [T/C] NM_001001671 MAP3K15 EXON Missense_R918Q exm1630836 X 19392741 [G/C] NM_001001671 MAP3K15 EXON Missense_A876G exm1630839 X 19398278 [A/G] NM_001001671 MAP3K15 EXON Missense_P850L exm1630842 X 19398315 [T/C] NM_001001671 MAP3K15 EXON Missense_G838S exm1630853 X 19410195 [T/C] NM_001001671 MAP3K15 EXON Missense_G786R exm1630870 X 19416381 [A/G] NM_001001671 MAP3K15 EXON Nonsense_R677X exm1630880 X 19418744 [T/C] NM_001001671 MAP3K15 EXON Missense_A628T exm1630881 X 19425363 [A/G] NM_001001671 MAP3K15 EXON Missense_V596A exm1630896 X 19433293 [A/G] NM_001001671 MAP3K15 EXON Missense_R508W exm1630899 X 19433335 [A/G] NM_001001671 MAP3K15 EXON Missense_R494C exm1630903 X 19443719 [T/C] NM_001001671 MAP3K15 EXON Missense_M457V exm1630904 X 19443722 [T/C] NM_001001671 MAP3K15 EXON Missense_S456G exm1630905 X 19443725 [T/C] NM_001001671 MAP3K15 EXON Missense_V455I exm1630914 X 19449574 [T/C] NM_001001671 MAP3K15 EXON Missense_R383H exm1630919 X 19475062 [T/C] NM_001001671 MAP3K15 EXON Missense_I322V exm1630930 X 19482454 [T/C] NM_001001671 MAP3K15 EXON Missense_S199N exm1630932 X 19482476 [T/C] NM_001001671 MAP3K15 EXON Missense_A192T exm2264781 X 19500378 [A/C] NM_001001671 MAP3K15 Silent exm1630940 X 19555842 [T/C] NM_031892,NM_001024666,NM_001184960 SH3KBP1,SH3KBP1,SH3KBP1 EXON Missense_R650Q,Missense_R613Q,Missense_R412Q exm1630955 X 19560236 [T/A] NM_031892,NM_001024666,NM_001184960 SH3KBP1,SH3KBP1,SH3KBP1 EXON Missense_S567T,Missense_S530T,Missense_S329T exm1630957 X 19560254 [T/C] NM_031892,NM_001024666,NM_001184960 SH3KBP1,SH3KBP1,SH3KBP1 EXON Missense_G561S,Missense_G524S,Missense_G323S exm1630962 X 19564042 [C/G] NM_031892,NM_001024666,NM_001184960 SH3KBP1,SH3KBP1,SH3KBP1 EXON Missense_Q541E,Missense_Q504E,Missense_Q303E exm1630980 X 19606876 [T/C] NM_031892,NM_001024666,NM_001184960 SH3KBP1,SH3KBP1,SH3KBP1 EXON Missense_V395I,Missense_V358I,Missense_V157I exm1630990 X 19626124 [T/C] NM_031892,NM_001024666,NM_001184960 SH3KBP1,SH3KBP1,SH3KBP1 EXON Missense_G313S,Missense_G276S,Missense_G75S exm1630991 X 19626151 [T/C] NM_031892,NM_001024666,NM_001184960 SH3KBP1,SH3KBP1,SH3KBP1 EXON Missense_V304I,Missense_V267I,Missense_V66I exm1630996 X 19701951 [A/G] NM_031892,NM_001024666 SH3KBP1,SH3KBP1 EXON Missense_P239L,Missense_P202L exm1631049 X 19983256 [T/G] NM_198279 CXorf23 EXON Missense_Q394K exm1631051 X 19983348 [T/C] NM_198279 CXorf23 EXON Missense_R363Q exm1631053 X 19983405 [A/G] NM_198279 CXorf23 EXON Missense_P344L exm1631067 X 19984574 [T/G] NM_198279 CXorf23 EXON Missense_P79T exm1631071 X 19984667 [T/C] NM_198279 CXorf23 EXON Missense_A48T exm1631075 X 19988355 [T/C] NM_198279 CXorf23 EXON Missense_R10G exm1631086 X 20030588 [A/G] NM_001168467,NM_001168465,NM_001168466,NM_152780 MAP7D2,MAP7D2,MAP7D2,MAP7D2 EXON Missense_P558S,Missense_P651S,Missense_P565S,Missense_P610S exm1631115 X 20043142 [T/C] NM_001168467,NM_001168465,NM_001168466,NM_152780 MAP7D2,MAP7D2,MAP7D2,MAP7D2 EXON Missense_E354K,Missense_E447K,Missense_E361K,Missense_E406K exm1631126 X 20044068 [A/G] NM_001168467,NM_001168465,NM_001168466,NM_152780 MAP7D2,MAP7D2,MAP7D2,MAP7D2 EXON Missense_T244I,Missense_T337I,Missense_T251I,Missense_T296I exm1631130 X 20060647 [T/C] NM_001168467,NM_001168465,NM_001168466,NM_152780 MAP7D2,MAP7D2,MAP7D2,MAP7D2 EXON Missense_K234R,Missense_K327R,Missense_K241R,Missense_K286R exm1631131 X 20060693 [A/G] NM_001168467,NM_001168465,NM_001168466,NM_152780 MAP7D2,MAP7D2,MAP7D2,MAP7D2 EXON Missense_F219L,Missense_F312L,Missense_F226L,Missense_F271L exm1631144 X 20071046 [T/C] NM_001168467,NM_001168465,NM_001168466,NM_152780 MAP7D2,MAP7D2,MAP7D2,MAP7D2 EXON Missense_N138S,Missense_N182S,Silent,Missense_N182S exm1631148 X 20071079 [A/G] NM_001168467,NM_001168465,NM_001168466,NM_152780 MAP7D2,MAP7D2,MAP7D2,MAP7D2 EXON Missense_M127T,Missense_M171T,Silent,Missense_M171T exm1631167 X 20134957 [A/G] NM_001168465,NM_001168466,NM_152780 MAP7D2,MAP7D2,MAP7D2 EXON Missense_P14L,Missense_P14L,Missense_P14L exm1631184 X 20173571 [T/C] NM_004586 RPS6KA3 EXON Missense_R723H exm1631188 X 20179837 [A/T] NM_004586 RPS6KA3 EXON Missense_E628D exm1631221 X 20227510 [T/C] NM_004586 RPS6KA3 EXON Missense_I47V exm1631224 X 20252889 [A/C] NM_004586 RPS6KA3 EXON Missense_I38S exm2263025 X 21197058 [A/C] exm1631230 X 21450741 [T/G] NM_001168647,NM_001168648,NM_014927,NM_001168649 CNKSR2,CNKSR2,CNKSR2,CNKSR2 EXON Missense_L80F,Missense_L80F,Missense_L80F,Missense_L80F exm1631246 X 21534688 [A/G] NM_001168647,NM_001168648,NM_014927,NM_001168649 CNKSR2,CNKSR2,CNKSR2,CNKSR2 EXON Missense_S299N,Missense_S299N,Missense_S299N,Silent exm1631287 X 21670517 [A/G] NM_001168647,NM_014927 CNKSR2,CNKSR2 EXON Missense_D965N,Missense_D995N exm1631314 X 21674603 [A/G] NM_153270 KLHL34 EXON Missense_A435V exm1631323 X 21674999 [T/C] NM_153270 KLHL34 EXON Missense_R303K exm1631328 X 21675102 [A/G] NM_153270 KLHL34 EXON Nonsense_Q269X exm1631341 X 21675434 [A/G] NM_153270 KLHL34 EXON Missense_L158S exm2264782 X 21698093 [A/C] exm1631351 X 21761868 [T/C] NM_014332,NR_045617 SMPX,SMPX EXON Synonymous_E44E,Silent exm1631358 X 21861430 [A/G] NM_015884 MBTPS2 EXON Missense_Y73C exm1631360 X 21863314 [A/G] NM_015884 MBTPS2 EXON Missense_V84I exm1631361 X 21863354 [T/C] NM_015884 MBTPS2 EXON Missense_T97M exm1631363 X 21863371 [A/G] NM_015884 MBTPS2 EXON Missense_A103T exm1631371 X 21869673 [T/C] NM_015884 MBTPS2 EXON Missense_T162M exm1631381 X 21874720 [A/G] NM_015884,NM_206923 MBTPS2,YY2 EXON Silent,Missense_V40I exm1631390 X 21875060 [T/C] NM_015884,NM_206923 MBTPS2,YY2 EXON Silent,Missense_T153I exm1631393 X 21875170 [T/C] NM_015884,NM_206923 MBTPS2,YY2 EXON Silent,Missense_P190S exm1631394 X 21875176 [A/G] NM_015884,NM_206923 MBTPS2,YY2 EXON Silent,Missense_D192N exm1631396 X 21875323 [A/G] NM_015884,NM_206923 MBTPS2,YY2 EXON Silent,Missense_V241M exm1631405 X 21875648 [A/G] NM_015884,NM_206923 MBTPS2,YY2 EXON Silent,Missense_N349S exm2273098 X 21879628 [T/G] NM_015884 MBTPS2 Silent exm1631424 X 21896786 [T/C] NM_015884 MBTPS2 EXON Missense_H413Y exm1631438 X 21990015 [T/C] NM_001258423,NM_004595 SMS,SMS EXON Silent,Synonymous_S57S exm1631439 X 21995179 [A/G] NM_001258423,NM_004595 SMS,SMS EXON Synonymous_R57R,Synonymous_R110R exm1631460 X 22051133 [G/C] NM_000444 PHEX EXON Missense_E4Q exm2273099 X 22061389 [T/C] NM_000444 PHEX Silent exm1631488 X 22115124 [A/C] NM_000444 PHEX EXON Missense_N301H exm2273234 X 22142354 [T/C] NM_000444 PHEX Silent exm-rs12559632 X 22160992 [A/G] NM_000444 PHEX Silent exm1631527 X 22245726 [A/C] NM_000444 PHEX EXON Missense_H690N exm1631536 X 22291205 [A/T] NR_073010,NM_152577 LOC100873065,ZNF645 EXON Silent,Missense_I33F exm1631537 X 22291206 [A/T] NR_073010,NM_152577 LOC100873065,ZNF645 EXON Silent,Missense_I33N exm1631542 X 22291457 [C/G] NR_073010,NM_152577 LOC100873065,ZNF645 EXON Silent,Missense_V117L exm1631547 X 22291569 [A/G] NR_073010,NM_152577 LOC100873065,ZNF645 EXON Silent,Missense_R154H exm1631551 X 22291606 [A/C] NR_073010,NM_152577 LOC100873065,ZNF645 EXON Silent,Missense_D166E exm1631552 X 22291647 [A/T] NR_073010,NM_152577 LOC100873065,ZNF645 EXON Silent,Missense_I180N exm1631558 X 22291857 [A/G] NR_073010,NM_152577 LOC100873065,ZNF645 EXON Silent,Missense_G250D exm1631559 X 22291860 [T/C] NR_073010,NM_152577 LOC100873065,ZNF645 EXON Silent,Missense_A251V exm1631563 X 22291983 [T/G] NR_073010,NM_152577 LOC100873065,ZNF645 EXON Silent,Missense_V292G exm1631566 X 22292042 [G/C] NR_073010,NM_152577 LOC100873065,ZNF645 EXON Silent,Missense_Q312E exm1631567 X 22292043 [A/C] NR_073010,NM_152577 LOC100873065,ZNF645 EXON Silent,Missense_Q312P exm1631574 X 22292310 [T/C] NR_073010,NM_152577 LOC100873065,ZNF645 EXON Silent,Missense_P401L exm1631576 X 22292315 [T/C] NR_073010,NM_152577 LOC100873065,ZNF645 EXON Silent,Missense_R403W exm2263028 X 22725604 [A/G] NR_073010 LOC100873065 Silent exm-rs5925696 X 22892077 [A/G] NR_073010 LOC100873065 Silent exm1631583 X 23018271 [A/G] NR_073010,NM_182699 LOC100873065,DDX53 EXON Silent,Missense_S33G exm1631585 X 23018287 [A/G] NR_073010,NM_182699 LOC100873065,DDX53 EXON Silent,Missense_H38R exm1631587 X 23018359 [T/C] NR_073010,NM_182699 LOC100873065,DDX53 EXON Silent,Missense_V62A exm1631592 X 23018493 [T/G] NR_073010,NM_182699 LOC100873065,DDX53 EXON Silent,Missense_A107S exm1631595 X 23018574 [A/G] NR_073010,NM_182699 LOC100873065,DDX53 EXON Silent,Missense_I134V exm1631599 X 23018664 [A/G] NR_073010,NM_182699 LOC100873065,DDX53 EXON Silent,Missense_E164K exm2209522 X 23018710 [A/C] NR_073010,NM_182699 LOC100873065,DDX53 EXON Silent,Missense_Y179S exm2277424 X 23018814 [T/C] NR_073010,NM_182699 LOC100873065,DDX53 EXON Silent,Missense_R214C exm1631603 X 23018823 [T/C] NR_073010,NM_182699 LOC100873065,DDX53 EXON Silent,Missense_P217S exm1631619 X 23019317 [T/G] NR_073010,NM_182699 LOC100873065,DDX53 EXON Silent,Missense_M381I exm1631621 X 23019346 [T/G] NR_073010,NM_182699 LOC100873065,DDX53 EXON Silent,Missense_R391M exm2209525 X 23019399 [A/G] NR_073010,NM_182699 LOC100873065,DDX53 EXON Silent,Missense_T409A exm1631629 X 23019670 [T/G] NR_073010,NM_182699 LOC100873065,DDX53 EXON Silent,Missense_G499V exm1631633 X 23019792 [T/C] NR_073010,NM_182699 LOC100873065,DDX53 EXON Silent,Missense_Y540H exm1631641 X 23020021 [A/G] NR_073010,NM_182699 LOC100873065,DDX53 EXON Silent,Missense_R616Q exm2263029 X 23041919 [T/G] NR_073010 LOC100873065 Silent exm2262788 X 23348954 [A/G] exm1631646 X 23353006 [T/G] NM_173495 PTCHD1 EXON Missense_V5G exm1631660 X 23397873 [A/G] NM_173495 PTCHD1 EXON Missense_I173V exm1631680 X 23410863 [A/G] NM_173495 PTCHD1 EXON Missense_I410V exm1631684 X 23411052 [A/G] NM_173495 PTCHD1 EXON Missense_E473K exm2268461 X 23661428 [A/G] exm1631712 X 23689717 [A/G] NM_006406 PRDX4 EXON Missense_D105N exm1631734 X 23722045 [A/G] NM_001037171,NM_001033583 ACOT9,ACOT9 EXON Missense_A438V,Missense_A429V exm1631745 X 23723711 [C/G] NM_001037171,NM_001033583 ACOT9,ACOT9 EXON Missense_E312Q,Missense_E303Q exm1631759 X 23731321 [T/C] NM_001037171,NM_001033583 ACOT9,ACOT9 EXON Missense_H198R,Missense_H189R exm1631766 X 23748972 [T/C] NM_001037171,NM_001033583 ACOT9,ACOT9 EXON Missense_E108G,Missense_E99G exm1631772 X 23749080 [T/C] NM_001037171,NM_001033583 ACOT9,ACOT9 EXON Missense_E72G,Missense_E63G exm1631803 X 23874465 [T/C] NR_026545,NM_024122 APOO,APOO EXON Silent,Missense_R172Q exm1631804 X 23874484 [A/C] NR_026545,NM_024122 APOO,APOO EXON Silent,Missense_L166V exm1631808 X 23876779 [T/G] NR_026545,NM_024122 APOO,APOO EXON Silent,Missense_Q154K exm1631821 X 23898976 [T/C] NR_026545,NM_024122 APOO,APOO EXON Silent,Missense_V35M exm1631838 X 23928481 [A/G] NM_152761,NM_001169574 CXorf58,CXorf58 EXON Missense_Q21R,Missense_Q21R exm1631840 X 23928489 [T/C] NM_152761,NM_001169574 CXorf58,CXorf58 EXON Missense_R24C,Missense_R24C exm1631842 X 23928504 [A/G] NM_152761,NM_001169574 CXorf58,CXorf58 EXON Missense_A29T,Missense_A29T exm1631843 X 23928535 [T/C] NM_152761,NM_001169574 CXorf58,CXorf58 EXON Missense_S39L,Missense_S39L exm1631851 X 23933912 [A/G] NM_152761,NM_001169574 CXorf58,CXorf58 Silent,Silent exm1631859 X 23945368 [C/G] NM_152761,NM_001169574 CXorf58,CXorf58 EXON Missense_A146P,Missense_A146P exm1631860 X 23945401 [T/C] NM_152761,NM_001169574 CXorf58,CXorf58 EXON Missense_R157C,Missense_R157C exm1631864 X 23953317 [A/G] NM_152761,NM_001169574 CXorf58,CXorf58 EXON Missense_R187H,Missense_R187H exm1631872 X 23953454 [T/C] NM_152761,NM_001169574 CXorf58,CXorf58 EXON Missense_R233C,Missense_R233C exm1631879 X 23957371 [T/C] NM_152761,NM_001169574 CXorf58,CXorf58 EXON Missense_T317M,Missense_T315M exm1631884 X 24006160 [T/G] NM_030624 KLHL15 EXON Missense_P565T exm1631891 X 24006643 [T/C] NM_030624 KLHL15 EXON Missense_D404N exm1631905 X 24024345 [T/C] NM_030624 KLHL15 EXON Missense_T156A exm1631920 X 24073777 [A/C] NM_001415 EIF2S3 EXON Missense_Q39K exm2273101 X 24185685 [T/C] NM_001178086,NM_001178095,NM_001178084,NM_001178085,NM_003410 ZFX,ZFX,ZFX,ZFX,ZFX Silent,Silent,Silent,Silent,Silent exm1631951 X 24197488 [G/C] NM_001178086,NM_001178095,NM_001178084,NM_001178085,NM_003410 ZFX,ZFX,ZFX,ZFX,ZFX EXON Silent,Missense_E83Q,Missense_E83Q,Missense_E83Q,Missense_E83Q exm1631955 X 24197645 [T/C] NM_001178086,NM_001178095,NM_001178084,NM_001178085,NM_003410 ZFX,ZFX,ZFX,ZFX,ZFX EXON Silent,Missense_T135M,Missense_T135M,Missense_T135M,Missense_T135M exm1631956 X 24197650 [A/G] NM_001178086,NM_001178095,NM_001178084,NM_001178085,NM_003410 ZFX,ZFX,ZFX,ZFX,ZFX EXON Silent,Missense_D137N,Missense_D137N,Missense_D137N,Missense_D137N exm1631960 X 24197822 [A/G] NM_001178086,NM_001178095,NM_001178084,NM_001178085,NM_003410 ZFX,ZFX,ZFX,ZFX,ZFX EXON Silent,Missense_N194S,Missense_N194S,Missense_N194S,Missense_N194S exm1631964 X 24225943 [A/G] NM_001178086,NM_001178095,NM_001178084,NM_001178085,NM_003410 ZFX,ZFX,ZFX,ZFX,ZFX EXON Missense_N75S,Missense_N304S,Missense_N304S,Missense_N304S,Missense_N304S exm2268574 X 24310260 [A/G] exm1632036 X 24329779 [G/C] NM_001136233 SUPT20HL2 EXON Missense_G552R exm1632050 X 24329926 [G/C] NM_001136233 SUPT20HL2 EXON Missense_A503P exm1632051 X 24329935 [A/C] NM_001136233 SUPT20HL2 EXON Missense_V500L exm1632078 X 24330799 [A/G] NM_001136233 SUPT20HL2 EXON Missense_P212S exm1632082 X 24330825 [A/G] NM_001136233 SUPT20HL2 EXON Missense_A203V exm1632085 X 24330928 [G/C] NM_001136233 SUPT20HL2 EXON Missense_P169A exm1632086 X 24330930 [T/C] NM_001136233 SUPT20HL2 EXON Missense_R168H exm1632137 X 24381409 [A/G] NM_001136234 SUPT20HL1 EXON Missense_V178M exm1632138 X 24381433 [G/C] NM_001136234 SUPT20HL1 EXON Missense_Q186E exm1632145 X 24381752 [T/C] NM_001136234 SUPT20HL1 EXON Missense_T292M exm1632166 X 24382373 [T/C] NM_001136234 SUPT20HL1 EXON Missense_I499T exm1632223 X 24521499 [A/G] NM_001142386,NM_005391 PDK3,PDK3 EXON Missense_M126V,Missense_M126V exm1632224 X 24523343 [A/G] NM_001142386,NM_005391 PDK3,PDK3 EXON Missense_D175N,Missense_D175N exm2273102 X 24530139 [T/C] NM_001142386,NM_005391 PDK3,PDK3 Silent,Silent exm1632234 X 24557261 [A/C] NM_001142386 PDK3 EXON Missense_K410Q exm1632272 X 24665165 [T/C] NM_004845,NM_001163265,NM_001163264 PCYT1B,PCYT1B,PCYT1B EXON Missense_N20D,Missense_N20D,Silent exm2209776 X 24735520 [A/G] NM_016937 POLA1 EXON Missense_M268V exm1632306 X 24735734 [A/G] NM_016937 POLA1 EXON Missense_D310N exm1632308 X 24735800 [A/G] NM_016937 POLA1 EXON Missense_V332I exm1632309 X 24735809 [T/G] NM_016937 POLA1 EXON Missense_A335S exm1632319 X 24745161 [T/C] NM_016937 POLA1 EXON Missense_P496S exm2248749 X 24746000 [A/G] NM_016937 POLA1 EXON Missense_V539M exm1632327 X 24751889 [A/G] NM_016937 POLA1 EXON Missense_D591N exm1632338 X 24759511 [T/C] NM_016937 POLA1 EXON Missense_Y740H exm1632394 X 24844604 [G/C] NM_016937 POLA1 EXON Missense_D1202H exm1632399 X 24859778 [T/C] NM_016937 POLA1 EXON Missense_P1243L exm2273235 X 25026993 [T/G] NM_139058 ARX Silent exm2273103 X 25205779 [T/C] exm2268462 X 25556467 [A/G] exm-rs5944185 X 25853614 [T/C] exm2268463 X 26048337 [A/G] exm1632453 X 26157146 [A/G] NM_173699 MAGEB18 EXON Missense_R15H exm1632461 X 26157220 [T/C] NM_173699 MAGEB18 EXON Missense_P40S exm1632463 X 26157248 [T/C] NM_173699 MAGEB18 EXON Missense_P49L exm1632468 X 26157296 [A/G] NM_173699 MAGEB18 EXON Missense_Q65R exm1632472 X 26157425 [A/C] NM_173699 MAGEB18 EXON Missense_N108T exm1632489 X 26157836 [A/C] NM_173699 MAGEB18 EXON Missense_T245N exm1632497 X 26158094 [A/G] NM_173699 MAGEB18 EXON Missense_R331H exm1632534 X 26211974 [T/G] NM_173523 MAGEB6 EXON Missense_G4V exm1632536 X 26211992 [A/G] NM_173523 MAGEB6 EXON Missense_R10H exm2209851 X 26212021 [A/G] NM_173523 MAGEB6 EXON Missense_G20S exm1632552 X 26212208 [T/C] NM_173523 MAGEB6 EXON Missense_S82F exm1632554 X 26212242 [T/G] NM_173523 MAGEB6 EXON Missense_S93R exm2209854 X 26212244 [T/C] NM_173523 MAGEB6 EXON Missense_P94L exm1632562 X 26212315 [A/G] NM_173523 MAGEB6 EXON Missense_G118S exm1632565 X 26212325 [A/G] NM_173523 MAGEB6 EXON Missense_G121D exm1632571 X 26212393 [A/G] NM_173523 MAGEB6 EXON Missense_V144I exm1632577 X 26212477 [G/C] NM_173523 MAGEB6 EXON Missense_G172R exm1632595 X 26212793 [A/G] NM_173523 MAGEB6 EXON Missense_S277N exm1632596 X 26212805 [T/C] NM_173523 MAGEB6 EXON Missense_A281V exm2248752 X 26212844 [T/A] NM_173523 MAGEB6 EXON Missense_V294E exm2273236 X 26344367 [T/G] exm2268464 X 26794876 [A/G] exm2273104 X 27005634 [T/C] exm2268576 X 27514265 [A/G] exm2273105 X 27691021 [T/C] exm2248756 X 27765025 [C/G] NM_001136533 DCAF8L2 EXON Missense_E5Q exm1632621 X 27765100 [A/G] NM_001136533 DCAF8L2 EXON Missense_V30M exm1632623 X 27765205 [T/G] NM_001136533 DCAF8L2 EXON Missense_D65Y exm1632624 X 27765243 [A/C] NM_001136533 DCAF8L2 EXON Missense_S77R exm1632632 X 27765616 [C/G] NM_001136533 DCAF8L2 EXON Missense_P202A exm1632637 X 27766045 [A/G] NM_001136533 DCAF8L2 EXON Missense_T345A exm1632651 X 27839542 [A/C] NM_182506 MAGEB10 EXON Missense_P40H exm1632652 X 27839553 [A/G] NM_182506 MAGEB10 EXON Missense_A44T exm1632653 X 27839572 [T/C] NM_182506 MAGEB10 EXON Missense_F50S exm1632655 X 27839617 [A/G] NM_182506 MAGEB10 EXON Missense_R65Q exm1632657 X 27839692 [T/C] NM_182506 MAGEB10 EXON Missense_M90T exm1632663 X 27840013 [A/G] NM_182506 MAGEB10 EXON Missense_G197D exm2209944 X 27840072 [T/C] NM_182506 MAGEB10 EXON Missense_C217R exm1632667 X 27840405 [A/G] NM_182506 MAGEB10 EXON Missense_V328I exm1632696 X 27998809 [T/C] NM_001017930 DCAF8L1 EXON Missense_G215S exm1632700 X 27998833 [A/G] NM_001017930 DCAF8L1 EXON Missense_R207C exm1632705 X 27998980 [C/G] NM_001017930 DCAF8L1 EXON Missense_L158V exm1632708 X 27998997 [T/C] NM_001017930 DCAF8L1 EXON Missense_R152Q exm1632727 X 27999211 [A/G] NM_001017930 DCAF8L1 EXON Missense_L81F exm1632729 X 27999288 [T/C] NM_001017930 DCAF8L1 EXON Missense_R55K exm1632736 X 27999373 [A/T] NM_001017930 DCAF8L1 EXON Missense_S27T exm1632738 X 27999424 [T/C] NM_001017930 DCAF8L1 EXON Missense_G10S exm1632739 X 27999427 [T/C] NM_001017930 DCAF8L1 EXON Missense_G9S exm-rs5971305 X 28233053 [A/G] exm2268577 X 28319144 [A/G] exm2264750 X 28753113 [A/C] NM_014271 IL1RAPL1 Silent exm2273107 X 29255861 [T/C] NM_014271 IL1RAPL1 Silent exm2268465 X 29503598 [A/G] NM_014271 IL1RAPL1 Silent exm-rs7890572 X 29640818 [A/G] NM_014271 IL1RAPL1 Silent exm2268578 X 29868181 [A/G] NM_014271 IL1RAPL1 Silent exm2210084 X 29938193 [A/G] NM_014271 IL1RAPL1 EXON Missense_V347I exm1632773 X 29959846 [A/G] NM_014271 IL1RAPL1 EXON Missense_K379R exm2263046 X 30191499 [T/C] exm1632799 X 30236744 [T/G] NM_002364 MAGEB2 EXON Missense_R16L exm1632800 X 30236774 [A/G] NM_002364 MAGEB2 EXON Missense_N26S exm1632802 X 30236813 [A/C] NM_002364 MAGEB2 EXON Missense_P39H exm1632805 X 30236878 [A/G] NM_002364 MAGEB2 EXON Missense_E61K exm1632807 X 30236905 [A/G] NM_002364 MAGEB2 EXON Missense_A70T exm1632814 X 30237004 [A/G] NM_002364 MAGEB2 EXON Missense_T103A exm1632823 X 30237196 [C/G] NM_002364 MAGEB2 EXON Missense_E167Q exm1632844 X 30254064 [T/C] NM_002365 MAGEB3 EXON Missense_T8M exm1632849 X 30254133 [T/C] NM_002365 MAGEB3 EXON Missense_T31I exm1632851 X 30254201 [T/C] NM_002365 MAGEB3 EXON Missense_S54P exm1632852 X 30254264 [A/G] NM_002365 MAGEB3 EXON Missense_V75I exm2210175 X 30254310 [T/C] NM_002365 MAGEB3 EXON Missense_I90T exm1632854 X 30254357 [T/C] NM_002365 MAGEB3 EXON Missense_S106P exm1632855 X 30254361 [A/G] NM_002365 MAGEB3 EXON Missense_R107H exm1632857 X 30254376 [T/C] NM_002365 MAGEB3 EXON Missense_I112T exm1632863 X 30254694 [T/C] NM_002365 MAGEB3 EXON Missense_A218V exm1632866 X 30254959 [T/G] NM_002365 MAGEB3 EXON Missense_W306C exm1632874 X 30260308 [A/G] NM_002367 MAGEB4 EXON Missense_R19H exm1632879 X 30260458 [T/C] NM_002367 MAGEB4 EXON Missense_T69I exm1632881 X 30260502 [A/G] NM_002367 MAGEB4 EXON Missense_D84N exm1632891 X 30260787 [A/G] NM_002367 MAGEB4 EXON Missense_V179I exm1632899 X 30261051 [A/C] NM_002367 MAGEB4 EXON Missense_R267S exm1632900 X 30261052 [A/G] NM_002367 MAGEB4 EXON Missense_R267H exm1632908 X 30261241 [T/C] NM_002367 MAGEB4 EXON Missense_M330T exm1632911 X 30268645 [A/G] NM_002363,NM_177415,NM_177404 MAGEB1,MAGEB1,MAGEB1 EXON Missense_R12H,Missense_R12H,Missense_R12H exm1632930 X 30269142 [A/G] NM_002363,NM_177415,NM_177404 MAGEB1,MAGEB1,MAGEB1 EXON Missense_V178I,Missense_V178I,Missense_V178I exm1632933 X 30269187 [T/G] NM_002363,NM_177415,NM_177404 MAGEB1,MAGEB1,MAGEB1 EXON Missense_W193G,Missense_W193G,Missense_W193G exm1632934 X 30269199 [A/G] NM_002363,NM_177415,NM_177404 MAGEB1,MAGEB1,MAGEB1 EXON Missense_R197G,Missense_R197G,Missense_R197G exm1632939 X 30269409 [T/C] NM_002363,NM_177415,NM_177404 MAGEB1,MAGEB1,MAGEB1 EXON Missense_R267C,Missense_R267C,Missense_R267C exm1632947 X 30322699 [T/C] NM_000475 NR0B1 EXON Missense_I470M exm1632974 X 30326881 [C/G] NM_000475 NR0B1 EXON Missense_C200W exm2210225 X 30327105 [T/C] NM_000475 NR0B1 EXON Missense_V126M exm1632985 X 30327224 [T/C] NM_000475 NR0B1 EXON Missense_S86N exm1632993 X 30327465 [T/G] NM_000475 NR0B1 EXON Missense_H6N exm2268579 X 30528493 [A/G] exm1633004 X 30577983 [T/G] NM_025159 CXorf21 EXON Missense_P164T exm1633006 X 30578024 [T/A] NM_025159 CXorf21 EXON Missense_F150Y exm1633007 X 30578111 [A/C] NM_025159 CXorf21 EXON Missense_C121F exm1633010 X 30578228 [T/G] NM_025159 CXorf21 EXON Missense_T82K exm1633011 X 30578250 [T/G] NM_025159 CXorf21 EXON Missense_H75N exm1633023 X 30695564 [T/C] NM_001128127,NM_203391,NM_000167,NM_001205019 GK,GK,GK,GK EXON Missense_A111V,Missense_A111V,Missense_A111V,Missense_A111V exm1633087 X 30872602 [A/G] NM_152787 TAB3 EXON Missense_W394R exm1633096 X 30873066 [A/G] NM_152787 TAB3 EXON Missense_S239L exm1633106 X 30873495 [T/C] NM_152787 TAB3 EXON Missense_R96Q exm2268466 X 30923189 [A/G] exm1633114 X 31089628 [T/A] NM_031894 FTHL17 EXON Missense_E148V exm1633115 X 31089629 [A/C] NM_031894 FTHL17 EXON Nonsense_E148X exm1633117 X 31089711 [G/C] NM_031894 FTHL17 EXON Missense_Q120H exm1633122 X 31089841 [T/C] NM_031894 FTHL17 EXON Missense_R77H exm1633123 X 31089842 [A/G] NM_031894 FTHL17 EXON Missense_R77C exm1633124 X 31089873 [T/A] NM_031894 FTHL17 EXON Missense_H66Q exm1633127 X 31089928 [A/G] NM_031894 FTHL17 EXON Missense_A48V exm1633131 X 31090013 [C/G] NM_031894 FTHL17 EXON Missense_A20P exm1633135 X 31140021 [T/C] NM_004017,NM_004006,NM_004016,NM_004014,NM_004011,NM_004013,NM_004012,NM_004010,NM_004021,NM_004020,NM_004022,NM_004023,NM_004009,NM_004015,NM_000109,NM_004007,NM_004018 DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD EXON Silent,Silent,Missense_M613V,Silent,Silent,Silent,Silent,Silent,Missense_M1221V,Silent,Missense_M1208V,Missense_M1111V,Silent,Silent,Silent,Silent,Missense_M600V exm1633168 X 31196048 [T/C] NM_004017,NM_004006,NM_004016,NM_004014,NM_004011,NM_004013,NM_004012,NM_004010,NM_004021,NM_004020,NM_004022,NM_004023,NM_004009,NM_004015,NM_000109,NM_004007,NM_004018 DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm2248765 X 31222094 [T/C] NM_004017,NM_004006,NM_004016,NM_004014,NM_004011,NM_004013,NM_004012,NM_004010,NM_004021,NM_004020,NM_004022,NM_004023,NM_004009,NM_004015,NM_000109,NM_004007,NM_004018,NM_004019 DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD EXON Missense_R196Q,Missense_R3264Q,Missense_R196Q,Missense_R535Q,Missense_R1923Q,Missense_R804Q,Missense_R1920Q,Missense_R3141Q,Missense_R804Q,Missense_R804Q,Missense_R804Q,Missense_R804Q,Missense_R3260Q,Missense_R196Q,Missense_R3256Q,Missense_R3141Q,Missense_R196Q,Missense_R196Q exm1633185 X 31222203 [A/G] NM_004017,NM_004006,NM_004016,NM_004014,NM_004011,NM_004013,NM_004012,NM_004010,NM_004021,NM_004020,NM_004022,NM_004023,NM_004009,NM_004015,NM_000109,NM_004007,NM_004018,NM_004019 DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD EXON Missense_F160L,Missense_F3228L,Missense_F160L,Missense_F499L,Missense_F1887L,Missense_F768L,Missense_F1884L,Missense_F3105L,Missense_F768L,Missense_F768L,Missense_F768L,Missense_F768L,Missense_F3224L,Missense_F160L,Missense_F3220L,Missense_F3105L,Missense_F160L,Missense_F160L exm2264783 X 31255002 [A/C] NM_004017,NM_004006,NM_004016,NM_004014,NM_004011,NM_004013,NM_004012,NM_004010,NM_004021,NM_004020,NM_004022,NM_004023,NM_004009,NM_004015,NM_000109,NM_004007,NM_004018,NM_004019 DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm1633196 X 31284928 [T/C] NM_004017,NM_004006,NM_004016,NM_004014,NM_004011,NM_004013,NM_004012,NM_004010,NM_004021,NM_004020,NM_004022,NM_004023,NM_004009,NM_004015,NM_000109,NM_004007,NM_004018,NM_004019 DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD EXON Missense_G7S,Silent,Missense_G7S,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_G7S,Silent,Silent,Missense_G7S,Missense_G7S exm1633201 X 31341774 [T/C] NM_004006,NM_004014,NM_004011,NM_004013,NM_004012,NM_004010,NM_004021,NM_004020,NM_004022,NM_004023,NM_004009,NM_000109,NM_004007 DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD EXON Synonymous_T3055T,Synonymous_T326T,Synonymous_T1714T,Synonymous_T595T,Synonymous_T1711T,Synonymous_T2932T,Synonymous_T595T,Synonymous_T595T,Synonymous_T595T,Synonymous_T595T,Synonymous_T3051T,Synonymous_T3047T,Synonymous_T2932T exm1633204 X 31366745 [T/C] NM_004006,NM_004014,NM_004011,NM_004013,NM_004012,NM_004010,NM_004021,NM_004020,NM_004022,NM_004023,NM_004009,NM_000109,NM_004007 DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD EXON Missense_V3031I,Missense_V302I,Missense_V1690I,Missense_V571I,Missense_V1687I,Missense_V2908I,Missense_V571I,Missense_V571I,Missense_V571I,Missense_V571I,Missense_V3027I,Missense_V3023I,Missense_V2908I exm2248767 X 31462687 [G/C] NM_004006,NM_004014,NM_004011,NM_004013,NM_004012,NM_004010,NM_004021,NM_004020,NM_004022,NM_004023,NM_004009,NM_000109,NM_004007 DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD EXON Missense_A2999P,Missense_A270P,Missense_A1658P,Missense_A539P,Missense_A1655P,Missense_A2876P,Missense_A539P,Missense_A539P,Missense_A539P,Missense_A539P,Missense_A2995P,Missense_A2991P,Missense_A2876P exm1633208 X 31462708 [T/C] NM_004006,NM_004014,NM_004011,NM_004013,NM_004012,NM_004010,NM_004021,NM_004020,NM_004022,NM_004023,NM_004009,NM_000109,NM_004007 DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD EXON Missense_V2992M,Missense_V263M,Missense_V1651M,Missense_V532M,Missense_V1648M,Missense_V2869M,Missense_V532M,Missense_V532M,Missense_V532M,Missense_V532M,Missense_V2988M,Missense_V2984M,Missense_V2869M exm1633211 X 31496308 [T/C] NM_004006,NM_004014,NM_004011,NM_004013,NM_004012,NM_004010,NM_004021,NM_004020,NM_004022,NM_004023,NM_004009,NM_000109,NM_004007 DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD EXON Missense_R2951H,Missense_R222H,Missense_R1610H,Missense_R491H,Missense_R1607H,Missense_R2828H,Missense_R491H,Missense_R491H,Missense_R491H,Missense_R491H,Missense_R2947H,Missense_R2943H,Missense_R2828H exm1633218 X 31496393 [A/C] NM_004006,NM_004014,NM_004011,NM_004013,NM_004012,NM_004010,NM_004021,NM_004020,NM_004022,NM_004023,NM_004009,NM_000109,NM_004007 DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD EXON Missense_A2923S,Missense_A194S,Missense_A1582S,Missense_A463S,Missense_A1579S,Missense_A2800S,Missense_A463S,Missense_A463S,Missense_A463S,Missense_A463S,Missense_A2919S,Missense_A2915S,Missense_A2800S exm1633220 X 31496398 [T/C] NM_004006,NM_004014,NM_004011,NM_004013,NM_004012,NM_004010,NM_004021,NM_004020,NM_004022,NM_004023,NM_004009,NM_000109,NM_004007 DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD EXON Missense_H2921R,Missense_H192R,Missense_H1580R,Missense_H461R,Missense_H1577R,Missense_H2798R,Missense_H461R,Missense_H461R,Missense_H461R,Missense_H461R,Missense_H2917R,Missense_H2913R,Missense_H2798R exm1633223 X 31496426 [T/C] NM_004006,NM_004014,NM_004011,NM_004013,NM_004012,NM_004010,NM_004021,NM_004020,NM_004022,NM_004023,NM_004009,NM_000109,NM_004007 DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD EXON Missense_N2912D,Missense_N183D,Missense_N1571D,Missense_N452D,Missense_N1568D,Missense_N2789D,Missense_N452D,Missense_N452D,Missense_N452D,Missense_N452D,Missense_N2908D,Missense_N2904D,Missense_N2789D exm1633224 X 31496431 [A/T] NM_004006,NM_004014,NM_004011,NM_004013,NM_004012,NM_004010,NM_004021,NM_004020,NM_004022,NM_004023,NM_004009,NM_000109,NM_004007 DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD EXON Missense_E2910V,Missense_E181V,Missense_E1569V,Missense_E450V,Missense_E1566V,Missense_E2787V,Missense_E450V,Missense_E450V,Missense_E450V,Missense_E450V,Missense_E2906V,Missense_E2902V,Missense_E2787V exm2263048 X 31515348 [A/G] NM_004006,NM_004014,NM_004011,NM_004013,NM_004012,NM_004010,NM_004021,NM_004020,NM_004022,NM_004023,NM_004009,NM_000109,NM_004007 DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm1633236 X 31525480 [T/C] NM_004006,NM_004014,NM_004011,NM_004013,NM_004012,NM_004010,NM_004021,NM_004020,NM_004022,NM_004023,NM_004009,NM_000109,NM_004007 DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD EXON Missense_D2770N,Missense_D41N,Missense_D1429N,Missense_D310N,Missense_D1426N,Missense_D2647N,Missense_D310N,Missense_D310N,Missense_D310N,Missense_D310N,Missense_D2766N,Missense_D2762N,Missense_D2647N exm1633237 X 31525518 [T/C] NM_004006,NM_004014,NM_004011,NM_004013,NM_004012,NM_004010,NM_004021,NM_004020,NM_004022,NM_004023,NM_004009,NM_000109,NM_004007 DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD EXON Missense_E2757G,Missense_E28G,Missense_E1416G,Missense_E297G,Missense_E1413G,Missense_E2634G,Missense_E297G,Missense_E297G,Missense_E297G,Missense_E297G,Missense_E2753G,Missense_E2749G,Missense_E2634G exm2248768 X 31525554 [A/G] NM_004006,NM_004014,NM_004011,NM_004013,NM_004012,NM_004010,NM_004021,NM_004020,NM_004022,NM_004023,NM_004009,NM_000109,NM_004007 DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD EXON Missense_I2745T,Missense_I16T,Missense_I1404T,Missense_I285T,Missense_I1401T,Missense_I2622T,Missense_I285T,Missense_I285T,Missense_I285T,Missense_I285T,Missense_I2741T,Missense_I2737T,Missense_I2622T exm1633248 X 31676146 [G/C] NM_004006,NM_004011,NM_004013,NM_004012,NM_004010,NM_004021,NM_004020,NM_004022,NM_004023,NM_004009,NM_000109,NM_004007 DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD EXON Missense_T2663R,Missense_T1322R,Missense_T203R,Missense_T1319R,Missense_T2540R,Missense_T203R,Missense_T203R,Missense_T203R,Missense_T203R,Missense_T2659R,Missense_T2655R,Missense_T2540R exm1633264 X 31747837 [T/C] NM_004006,NM_004011,NM_004013,NM_004012,NM_004010,NM_004021,NM_004020,NM_004022,NM_004023,NM_004009,NM_000109,NM_004007 DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD EXON Missense_R2524H,Missense_R1183H,Missense_R64H,Missense_R1180H,Missense_R2401H,Missense_R64H,Missense_R64H,Missense_R64H,Missense_R64H,Missense_R2520H,Missense_R2516H,Missense_R2401H exm1633270 X 31792147 [T/C] NM_004006,NM_004011,NM_004013,NM_004012,NM_004010,NM_004021,NM_004020,NM_004022,NM_004023,NM_004009,NM_000109,NM_004007 DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD EXON Missense_Q2491R,Missense_Q1150R,Missense_Q31R,Missense_Q1147R,Missense_Q2368R,Missense_Q31R,Missense_Q31R,Missense_Q31R,Missense_Q31R,Missense_Q2487R,Missense_Q2483R,Missense_Q2368R exm1633278 X 31838158 [A/G] NM_004006,NM_004011,NM_004013,NM_004012,NM_004010,NM_004021,NM_004020,NM_004022,NM_004023,NM_004009,NM_000109,NM_004007 DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD EXON Missense_R2415C,Missense_R1074C,Silent,Missense_R1071C,Missense_R2292C,Silent,Silent,Silent,Silent,Missense_R2411C,Missense_R2407C,Missense_R2292C exm1633280 X 31854852 [T/C] NM_004006,NM_004011,NM_004013,NM_004012,NM_004010,NM_004021,NM_004020,NM_004022,NM_004023,NM_004009,NM_000109,NM_004007 DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD EXON Missense_A2395T,Missense_A1054T,Silent,Missense_A1051T,Missense_A2272T,Silent,Silent,Silent,Silent,Missense_A2391T,Missense_A2387T,Missense_A2272T exm1633281 X 31854856 [T/G] NM_004006,NM_004011,NM_004013,NM_004012,NM_004010,NM_004021,NM_004020,NM_004022,NM_004023,NM_004009,NM_000109,NM_004007 DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD EXON Missense_K2393N,Missense_K1052N,Silent,Missense_K1049N,Missense_K2270N,Silent,Silent,Silent,Silent,Missense_K2389N,Missense_K2385N,Missense_K2270N exm2210358 X 31854884 [T/G] NM_004006,NM_004011,NM_004013,NM_004012,NM_004010,NM_004021,NM_004020,NM_004022,NM_004023,NM_004009,NM_000109,NM_004007 DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD EXON Missense_S2384Y,Missense_S1043Y,Silent,Missense_S1040Y,Missense_S2261Y,Silent,Silent,Silent,Silent,Missense_S2380Y,Missense_S2376Y,Missense_S2261Y exm1633282 X 31854905 [A/G] NM_004006,NM_004011,NM_004013,NM_004012,NM_004010,NM_004021,NM_004020,NM_004022,NM_004023,NM_004009,NM_000109,NM_004007 DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD EXON Missense_P2377L,Missense_P1036L,Silent,Missense_P1033L,Missense_P2254L,Silent,Silent,Silent,Silent,Missense_P2373L,Missense_P2369L,Missense_P2254L exm1633284 X 31893307 [T/G] NM_004006,NM_004011,NM_004013,NM_004012,NM_004010,NM_004021,NM_004020,NM_004022,NM_004023,NM_004009,NM_000109,NM_004007 DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm1633286 X 31893318 [T/G] NM_004006,NM_004011,NM_004013,NM_004012,NM_004010,NM_004021,NM_004020,NM_004022,NM_004023,NM_004009,NM_000109,NM_004007 DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD EXON Missense_P2362Q,Missense_P1021Q,Silent,Missense_P1018Q,Missense_P2239Q,Silent,Silent,Silent,Silent,Missense_P2358Q,Missense_P2354Q,Missense_P2239Q exm2248769 X 31947715 [T/G] NM_004006,NM_004011,NM_004013,NM_004012,NM_004010,NM_004021,NM_004020,NM_004022,NM_004023,NM_004009,NM_000109,NM_004007 DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD EXON Missense_K2304Q,Missense_K963Q,Silent,Missense_K960Q,Missense_K2181Q,Silent,Silent,Silent,Silent,Missense_K2300Q,Missense_K2296Q,Missense_K2181Q exm1633295 X 31986499 [A/G] NM_004006,NM_004011,NM_004013,NM_004012,NM_004010,NM_004021,NM_004020,NM_004022,NM_004023,NM_004009,NM_000109,NM_004007 DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD EXON Missense_R2191W,Missense_R850W,Silent,Missense_R847W,Missense_R2068W,Silent,Silent,Silent,Silent,Missense_R2187W,Missense_R2183W,Missense_R2068W exm1633297 X 31986607 [A/G] NM_004006,NM_004011,NM_004013,NM_004012,NM_004010,NM_004021,NM_004020,NM_004022,NM_004023,NM_004009,NM_000109,NM_004007 DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD EXON Missense_R2155W,Missense_R814W,Silent,Missense_R811W,Missense_R2032W,Silent,Silent,Silent,Silent,Missense_R2151W,Missense_R2147W,Missense_R2032W exm2268580 X 32026403 [A/G] NM_004006,NM_004011,NM_004013,NM_004012,NM_004010,NM_004021,NM_004020,NM_004022,NM_004023,NM_004009,NM_000109,NM_004007 DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm2263050 X 32102726 [T/G] NM_004006,NM_004011,NM_004013,NM_004012,NM_004010,NM_004021,NM_004020,NM_004022,NM_004023,NM_004009,NM_000109,NM_004007 DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm1633299 X 32235149 [A/G] NM_004006,NM_004011,NM_004012,NM_004010,NM_004009,NM_000109,NM_004007 DMD,DMD,DMD,DMD,DMD,DMD,DMD EXON Missense_R2108C,Missense_R767C,Missense_R764C,Missense_R1985C,Missense_R2104C,Missense_R2100C,Missense_R1985C exm1633300 X 32235151 [T/C] NM_004006,NM_004011,NM_004012,NM_004010,NM_004009,NM_000109,NM_004007 DMD,DMD,DMD,DMD,DMD,DMD,DMD EXON Missense_R2107Q,Missense_R766Q,Missense_R763Q,Missense_R1984Q,Missense_R2103Q,Missense_R2099Q,Missense_R1984Q exm1633309 X 32328332 [T/A] NM_004006,NM_004011,NM_004012,NM_004010,NM_004009,NM_000109,NM_004007 DMD,DMD,DMD,DMD,DMD,DMD,DMD EXON Missense_Y1995F,Missense_Y654F,Missense_Y651F,Missense_Y1872F,Missense_Y1991F,Missense_Y1987F,Missense_Y1872F exm1633322 X 32361370 [T/C] NM_004006,NM_004011,NM_004012,NM_004010,NM_004009,NM_000109,NM_004007 DMD,DMD,DMD,DMD,DMD,DMD,DMD EXON Missense_E1874K,Missense_E533K,Missense_E530K,Missense_E1751K,Missense_E1870K,Missense_E1866K,Missense_E1751K exm1633332 X 32364170 [G/C] NM_004006,NM_004011,NM_004012,NM_004010,NM_004009,NM_000109,NM_004007 DMD,DMD,DMD,DMD,DMD,DMD,DMD EXON Missense_E1826Q,Missense_E485Q,Missense_E482Q,Missense_E1703Q,Missense_E1822Q,Missense_E1818Q,Missense_E1703Q exm1633338 X 32380996 [T/C] NM_004006,NM_004011,NM_004012,NM_004010,NM_004009,NM_000109,NM_004007 DMD,DMD,DMD,DMD,DMD,DMD,DMD EXON Missense_R1745H,Missense_R404H,Missense_R401H,Missense_R1622H,Missense_R1741H,Missense_R1737H,Missense_R1622H exm2277427 X 32381049 [T/A] NM_004006,NM_004011,NM_004012,NM_004010,NM_004009,NM_000109,NM_004007 DMD,DMD,DMD,DMD,DMD,DMD,DMD EXON Synonymous_I1727I,Synonymous_I386I,Synonymous_I383I,Synonymous_I1604I,Synonymous_I1723I,Synonymous_I1719I,Synonymous_I1604I exm1633350 X 32383146 [T/A] NM_004006,NM_004011,NM_004012,NM_004010,NM_004009,NM_000109,NM_004007 DMD,DMD,DMD,DMD,DMD,DMD,DMD EXON Missense_N1672K,Missense_N331K,Missense_N328K,Missense_N1549K,Missense_N1668K,Missense_N1664K,Missense_N1549K exm1633369 X 32404572 [T/C] NM_004006,NM_004011,NM_004012,NM_004010,NM_004009,NM_000109,NM_004007 DMD,DMD,DMD,DMD,DMD,DMD,DMD EXON Missense_K1510R,Missense_K169R,Missense_K166R,Missense_K1387R,Missense_K1506R,Missense_K1502R,Missense_K1387R exm1633377 X 32429867 [A/G] NM_004006,NM_004011,NM_004012,NM_004010,NM_004009,NM_000109,NM_004007 DMD,DMD,DMD,DMD,DMD,DMD,DMD Silent,Silent,Silent,Silent,Silent,Silent,Silent exm1633380 X 32429940 [A/C] NM_004006,NM_004011,NM_004012,NM_004010,NM_004009,NM_000109,NM_004007 DMD,DMD,DMD,DMD,DMD,DMD,DMD EXON Missense_F1388V,Missense_F47V,Missense_F44V,Missense_F1265V,Missense_F1384V,Missense_F1380V,Missense_F1265V exm1633382 X 32430009 [A/G] NM_004006,NM_004011,NM_004012,NM_004010,NM_004009,NM_000109,NM_004007 DMD,DMD,DMD,DMD,DMD,DMD,DMD EXON Missense_L1365F,Missense_L24F,Missense_L21F,Missense_L1242F,Missense_L1361F,Missense_L1357F,Missense_L1242F exm1633395 X 32456459 [A/G] NM_004006,NM_004010,NM_004009,NM_000109,NM_004007 DMD,DMD,DMD,DMD,DMD EXON Missense_R1324C,Missense_R1201C,Missense_R1320C,Missense_R1316C,Missense_R1201C exm2210478 X 32459424 [G/C] NM_004006,NM_004010,NM_004009,NM_000109,NM_004007 DMD,DMD,DMD,DMD,DMD EXON Missense_W1265S,Missense_W1142S,Missense_W1261S,Missense_W1257S,Missense_W1142S exm1633401 X 32466625 [A/G] NM_004006,NM_004010,NM_004009,NM_000109,NM_004007 DMD,DMD,DMD,DMD,DMD EXON Missense_T1245I,Missense_T1122I,Missense_T1241I,Missense_T1237I,Missense_T1122I exm1633406 X 32466724 [A/G] NM_004006,NM_004010,NM_004009,NM_000109,NM_004007 DMD,DMD,DMD,DMD,DMD EXON Missense_A1212V,Missense_A1089V,Missense_A1208V,Missense_A1204V,Missense_A1089V exm1633410 X 32472777 [A/T] NM_004006,NM_004010,NM_004009,NM_000109,NM_004007 DMD,DMD,DMD,DMD,DMD Silent,Silent,Silent,Silent,Silent exm1633423 X 32481662 [A/T] NM_004006,NM_004010,NM_004009,NM_000109,NM_004007 DMD,DMD,DMD,DMD,DMD EXON Missense_N1109I,Missense_N986I,Missense_N1105I,Missense_N1101I,Missense_N986I exm1633429 X 32482797 [T/C] NM_004006,NM_004010,NM_004009,NM_000109,NM_004007 DMD,DMD,DMD,DMD,DMD EXON Missense_K1061R,Missense_K938R,Missense_K1057R,Missense_K1053R,Missense_K938R exm1633439 X 32486757 [A/G] NM_004006,NM_004010,NM_004009,NM_000109,NM_004007 DMD,DMD,DMD,DMD,DMD EXON Missense_S1007L,Missense_S884L,Missense_S1003L,Missense_S999L,Missense_S884L exm1633441 X 32486806 [G/C] NM_004006,NM_004010,NM_004009,NM_000109,NM_004007 DMD,DMD,DMD,DMD,DMD EXON Missense_E991Q,Missense_E868Q,Missense_E987Q,Missense_E983Q,Missense_E868Q exm1633447 X 32490403 [A/G] NM_004006,NM_004010,NM_004009,NM_000109,NM_004007 DMD,DMD,DMD,DMD,DMD EXON Missense_R943C,Missense_R820C,Missense_R939C,Missense_R935C,Missense_R820C exm1633458 X 32509441 [T/A] NM_004006,NM_004010,NM_004009,NM_000109,NM_004007 DMD,DMD,DMD,DMD,DMD EXON Missense_T859S,Missense_T736S,Missense_T855S,Missense_T851S,Missense_T736S exm1633462 X 32509488 [T/A] NM_004006,NM_004010,NM_004009,NM_000109,NM_004007 DMD,DMD,DMD,DMD,DMD EXON Missense_E843V,Missense_E720V,Missense_E839V,Missense_E835V,Missense_E720V exm1633473 X 32536126 [T/C] NM_004006,NM_004010,NM_004009,NM_000109,NM_004007 DMD,DMD,DMD,DMD,DMD EXON Missense_N764S,Missense_N641S,Missense_N760S,Missense_N756S,Missense_N641S exm1633474 X 32536156 [A/C] NM_004006,NM_004010,NM_004009,NM_000109,NM_004007 DMD,DMD,DMD,DMD,DMD EXON Missense_G754V,Missense_G631V,Missense_G750V,Missense_G746V,Missense_G631V exm2263051 X 32548448 [A/G] NM_004006,NM_004010,NM_004009,NM_000109,NM_004007 DMD,DMD,DMD,DMD,DMD Silent,Silent,Silent,Silent,Silent exm1633487 X 32563447 [A/G] NM_004006,NM_004010,NM_004009,NM_000109,NM_004007 DMD,DMD,DMD,DMD,DMD EXON Missense_S666L,Missense_S543L,Missense_S662L,Missense_S658L,Missense_S543L exm1633491 X 32583877 [T/C] NM_004006,NM_004010,NM_004009,NM_000109,NM_004007 DMD,DMD,DMD,DMD,DMD EXON Missense_D645G,Missense_D522G,Missense_D641G,Missense_D637G,Missense_D522G exm1633493 X 32583923 [T/C] NM_004006,NM_004010,NM_004009,NM_000109,NM_004007 DMD,DMD,DMD,DMD,DMD EXON Missense_T630A,Missense_T507A,Missense_T626A,Missense_T622A,Missense_T507A exm1633498 X 32591647 [A/G] NM_004006,NM_004010,NM_004009,NM_000109,NM_004007 DMD,DMD,DMD,DMD,DMD EXON Synonymous_A604A,Synonymous_A481A,Synonymous_A600A,Synonymous_A596A,Synonymous_A481A exm1633500 X 32591728 [A/T] NM_004006,NM_004010,NM_004009,NM_000109,NM_004007 DMD,DMD,DMD,DMD,DMD EXON Missense_E577D,Missense_E454D,Missense_E573D,Missense_E569D,Missense_E454D exm1633501 X 32591741 [A/G] NM_004006,NM_004010,NM_004009,NM_000109,NM_004007 DMD,DMD,DMD,DMD,DMD EXON Missense_A573V,Missense_A450V,Missense_A569V,Missense_A565V,Missense_A450V exm1633504 X 32591879 [A/G] NM_004006,NM_004010,NM_004009,NM_000109,NM_004007 DMD,DMD,DMD,DMD,DMD EXON Missense_R563C,Missense_R440C,Missense_R559C,Missense_R555C,Missense_R440C exm2210529 X 32591900 [T/C] NM_004006,NM_004010,NM_004009,NM_000109,NM_004007 DMD,DMD,DMD,DMD,DMD EXON Missense_D556N,Missense_D433N,Missense_D552N,Missense_D548N,Missense_D433N exm1633515 X 32613963 [G/C] NM_004006,NM_004010,NM_004009,NM_000109,NM_004007 DMD,DMD,DMD,DMD,DMD EXON Missense_V505L,Missense_V382L,Missense_V501L,Missense_V497L,Missense_V382L exm2277428 X 32662262 [T/C] NM_004006,NM_004010,NM_004009,NM_000109,NM_004007 DMD,DMD,DMD,DMD,DMD EXON Missense_E440K,Missense_E317K,Missense_E436K,Missense_E432K,Missense_E317K exm1633524 X 32662328 [T/A] NM_004006,NM_004010,NM_004009,NM_000109,NM_004007 DMD,DMD,DMD,DMD,DMD EXON Missense_T418S,Missense_T295S,Missense_T414S,Missense_T410S,Missense_T295S exm1633526 X 32662355 [T/A] NM_004006,NM_004010,NM_004009,NM_000109,NM_004007 DMD,DMD,DMD,DMD,DMD EXON Missense_T409S,Missense_T286S,Missense_T405S,Missense_T401S,Missense_T286S exm1633532 X 32663135 [T/G] NM_004006,NM_004010,NM_004009,NM_000109,NM_004007 DMD,DMD,DMD,DMD,DMD EXON Missense_Q365H,Missense_Q242H,Missense_Q361H,Missense_Q357H,Missense_Q242H exm1633534 X 32663202 [T/C] NM_004006,NM_004010,NM_004009,NM_000109,NM_004007 DMD,DMD,DMD,DMD,DMD EXON Missense_R343H,Missense_R220H,Missense_R339H,Missense_R335H,Missense_R220H exm1633538 X 32716009 [A/G] NM_004006,NM_004010,NM_004009,NM_000109,NM_004007 DMD,DMD,DMD,DMD,DMD EXON Missense_T313I,Missense_T190I,Missense_T309I,Missense_T305I,Missense_T190I exm2273110 X 32858585 [T/C] NM_004006,NM_004010,NM_004009,NM_000109,NM_004007 DMD,DMD,DMD,DMD,DMD Silent,Silent,Silent,Silent,Silent exm2273238 X 33216077 [T/C] NM_004006,NM_000109 DMD,DMD Silent,Silent exm2273111 X 33488489 [T/C] exm2263054 X 34117079 [T/C] exm1633578 X 34148204 [T/C] NM_203408 FAM47A EXON Missense_D731G exm1633583 X 34148348 [A/G] NM_203408 FAM47A EXON Missense_S683L exm1633590 X 34148670 [G/C] NM_203408 FAM47A EXON Missense_R576G exm1633614 X 34148918 [A/G] NM_203408 FAM47A EXON Missense_S493L exm1633615 X 34148921 [T/C] NM_203408 FAM47A EXON Missense_H492R exm1633629 X 34149230 [A/G] NM_203408 FAM47A EXON Missense_P389L exm1633648 X 34149648 [T/C] NM_203408 FAM47A EXON Missense_G250R exm1633670 X 34150019 [A/G] NM_203408 FAM47A EXON Missense_M126T exm1633681 X 34150179 [A/G] NM_203408 FAM47A EXON Missense_R73C exm1633685 X 34150320 [A/G] NM_203408 FAM47A EXON Missense_P26S exm2268469 X 34332036 [A/G] exm1633697 X 34960959 [A/G] NM_152631 FAM47B EXON Missense_R4Q exm1633722 X 34961492 [T/C] NM_152631 FAM47B EXON Missense_Y182H exm1633732 X 34961714 [T/G] NM_152631 FAM47B EXON Missense_V256L exm1633747 X 34962036 [T/G] NM_152631 FAM47B EXON Missense_R363L exm1633748 X 34962062 [A/G] NM_152631 FAM47B EXON Missense_E372K exm1633751 X 34962186 [A/G] NM_152631 FAM47B EXON Missense_K413R exm1633753 X 34962204 [C/G] NM_152631 FAM47B EXON Missense_R419P exm1633755 X 34962282 [A/G] NM_152631 FAM47B EXON Missense_S445N exm1633771 X 34962597 [T/C] NM_152631 FAM47B EXON Missense_P550L exm2268470 X 35630680 [A/G] exm1633786 X 35820321 [A/G] NM_001099921 MAGEB16 EXON Missense_Q3R exm1633790 X 35820536 [A/G] NM_001099921 MAGEB16 EXON Missense_V75I exm1633793 X 35820602 [A/G] NM_001099921 MAGEB16 EXON Missense_S97G exm1633795 X 35820696 [A/G] NM_001099921 MAGEB16 EXON Missense_C128Y exm1633796 X 35820795 [A/G] NM_001099921 MAGEB16 EXON Missense_H161R exm1633797 X 35820836 [T/C] NM_001099921 MAGEB16 EXON Missense_P175S exm1633804 X 35821041 [T/C] NM_001099921 MAGEB16 EXON Missense_F243S exm1633805 X 35821055 [A/G] NM_001099921 MAGEB16 EXON Missense_M248V exm1633807 X 35821127 [T/C] NM_001099921 MAGEB16 EXON Nonsense_R272X exm2268471 X 35838756 [A/G] exm1633814 X 35937926 [T/C] NM_152632 CXorf22 EXON Nonsense_Q4X exm1633819 X 35938038 [A/G] NM_152632 CXorf22 EXON Missense_R41Q exm1633824 X 35938115 [A/C] NM_152632 CXorf22 EXON Missense_I67L exm2268581 X 35939510 [A/G] NM_152632 CXorf22 Silent exm1633844 X 35969426 [T/C] NM_152632 CXorf22 EXON Missense_P279S exm1633856 X 35971793 [T/G] NM_152632 CXorf22 EXON Missense_S377R exm1633859 X 35971832 [G/C] NM_152632 CXorf22 EXON Missense_I390M exm1633874 X 35985829 [T/C] NM_152632 CXorf22 EXON Missense_S565L exm1633884 X 35989788 [A/G] NM_152632 CXorf22 EXON Missense_I686V exm1633885 X 35989881 [A/G] NM_152632 CXorf22 EXON Missense_R717G exm1633887 X 35990047 [T/G] NM_152632 CXorf22 EXON Missense_M740R exm1633890 X 35993344 [A/C] NM_152632 CXorf22 EXON Missense_M779L exm1633896 X 35993789 [A/G] NM_152632 CXorf22 EXON Synonymous_K824K exm1633897 X 35993818 [T/C] NM_152632 CXorf22 EXON Missense_P834L exm1633902 X 35993925 [T/C] NM_152632 CXorf22 EXON Missense_R870W exm1633903 X 35993926 [A/G] NM_152632 CXorf22 EXON Missense_R870Q exm1633910 X 36007464 [T/A] NM_152632 CXorf22 EXON Missense_E914D exm1633913 X 36007614 [T/G] NM_152632 CXorf22 EXON Missense_F964L exm1633924 X 36089996 [T/A] NM_173695 CHDC2 EXON Missense_D33V exm1633929 X 36091379 [A/C] NM_173695 CHDC2 EXON Missense_H105P exm1633943 X 36117936 [A/G] NM_173695 CHDC2 EXON Missense_M264I exm1633949 X 36122710 [T/C] NM_173695 CHDC2 EXON Missense_S316F exm1633960 X 36162895 [A/G] NM_173695 CHDC2 EXON Missense_H493R exm1633971 X 36317165 [A/G] NM_001098843 CXorf30 EXON Missense_S33N exm1633978 X 36329006 [T/C] NM_001098843 CXorf30 EXON Missense_T195M exm1633983 X 36368166 [A/G] NM_001098843 CXorf30 EXON Missense_D319N exm1633985 X 36368205 [A/G] NM_001098843 CXorf30 EXON Missense_I332V exm1633986 X 36371696 [A/G] NM_001098843 CXorf30 EXON Missense_I363M exm1633987 X 36371719 [T/A] NM_001098843 CXorf30 EXON Missense_F371Y exm2268472 X 36501470 [A/G] exm2273241 X 36542914 [T/C] exm2268473 X 36679253 [A/G] exm1634025 X 37027005 [A/C] NM_001013736 FAM47C EXON Missense_E174D exm1634026 X 37027007 [A/C] NM_001013736 FAM47C EXON Missense_P175H exm1634045 X 37027276 [A/G] NM_001013736 FAM47C EXON Missense_T265A exm1634053 X 37027438 [T/C] NM_001013736 FAM47C EXON Missense_R319C exm1634075 X 37027633 [A/G] NM_001013736 FAM47C EXON Missense_K384E exm2248780 X 37027639 [A/C] NM_001013736 FAM47C EXON Missense_R386S exm1634093 X 37027903 [A/C] NM_001013736 FAM47C EXON Missense_L474I exm1634107 X 37028110 [A/G] NM_001013736 FAM47C EXON Missense_V543I exm2210724 X 37028139 [T/G] NM_001013736 FAM47C EXON Missense_E552D exm1634155 X 37028762 [C/G] NM_001013736 FAM47C EXON Missense_S760C exm1634157 X 37028770 [T/C] NM_001013736 FAM47C EXON Missense_R763C exm1634165 X 37028933 [T/C] NM_001013736 FAM47C EXON Missense_T817I exm1634170 X 37029199 [A/G] NM_001013736 FAM47C EXON Missense_M906V exm1634172 X 37029254 [A/C] NM_001013736 FAM47C EXON Missense_N924T exm1634173 X 37029256 [C/G] NM_001013736 FAM47C EXON Missense_A925P exm1634178 X 37029523 [T/C] NM_001013736 FAM47C EXON Missense_P1014S exm1634190 X 37312617 [G/C] NM_000950,NM_001142395,NM_001173490,NM_001173489 PRRG1,PRRG1,PRRG1,PRRG1 EXON Missense_P134A,Missense_P134A,Missense_P134A,Missense_P134A exm1634193 X 37312692 [A/G] NM_000950,NM_001142395,NM_001173490,NM_001173489 PRRG1,PRRG1,PRRG1,PRRG1 EXON Missense_V159I,Missense_V159I,Missense_V159I,Missense_V159I exm2210760 X 37431627 [T/C] NM_198511,NM_001170331 LANCL3,LANCL3 EXON Synonymous_D168D,Synonymous_D168D exm2273242 X 37464533 [T/C] NM_198511,NM_001170331 LANCL3,LANCL3 Silent,Silent exm1634225 X 37518858 [A/G] NM_198511,NM_001170331 LANCL3,LANCL3 EXON Missense_G281S,Missense_G281S exm1634235 X 37527659 [T/C] NM_198511,NM_001170331 LANCL3,LANCL3 EXON Missense_L381P,Silent exm1634236 X 37527667 [A/G] NM_198511,NM_001170331 LANCL3,LANCL3 EXON Missense_R384G,Silent exm1634264 X 37587488 [T/G] NM_021083 XK EXON Missense_Y370D exm1634283 X 37658219 [A/G] NM_000397 CYBB EXON Missense_R229H exm1634293 X 37663322 [C/G] NM_000397 CYBB EXON Missense_G364R exm1634295 X 37664266 [A/G] NM_000397 CYBB EXON Missense_V387I exm2248781 X 37665739 [A/G] NM_000397 CYBB EXON Missense_G472S exm1634302 X 37668854 [A/C] NM_000397 CYBB EXON Missense_K499T exm1634315 X 37699893 [T/C] NM_006520 DYNLT3 EXON Missense_V96I exm1634322 X 37700357 [G/C] NM_006520 DYNLT3 EXON Synonymous_V66V exm1634328 X 37701148 [T/C] NM_006520 DYNLT3 EXON Missense_G28E exm1634335 X 37850111 [T/G] NM_012274 CXorf27 EXON Missense_C7G exm1634337 X 37850140 [G/C] NM_012274 CXorf27 EXON Missense_Q16H exm1634340 X 37850195 [A/G] NM_012274 CXorf27 EXON Missense_V35I exm1634346 X 37850340 [A/G] NM_012274 CXorf27 EXON Missense_Q83R exm1634349 X 37850385 [T/C] NM_012274 CXorf27 EXON Missense_A98V exm2273243 X 37890629 [T/C] NM_138780,NM_001163335 SYTL5,SYTL5 Silent,Silent exm1634355 X 37913566 [A/T] NM_138780,NM_001163335,NM_001163334 SYTL5,SYTL5,SYTL5 EXON Missense_I74F,Missense_I74F,Missense_I74F exm1634357 X 37913639 [A/G] NM_138780,NM_001163335,NM_001163334 SYTL5,SYTL5,SYTL5 EXON Missense_N98S,Missense_N98S,Missense_N98S exm1634362 X 37931389 [A/G] NM_138780,NM_001163335,NM_001163334 SYTL5,SYTL5,SYTL5 EXON Missense_R140Q,Missense_R140Q,Missense_R140Q exm1634364 X 37932876 [A/G] NM_138780,NM_001163335,NM_001163334 SYTL5,SYTL5,SYTL5 EXON Missense_R160H,Missense_R160H,Missense_R160H exm1634377 X 37948832 [A/G] NM_138780,NM_001163335,NM_001163334 SYTL5,SYTL5,SYTL5 EXON Missense_I275V,Missense_I275V,Missense_I275V exm1634378 X 37953548 [A/G] NM_138780,NM_001163335,NM_001163334 SYTL5,SYTL5,SYTL5 EXON Missense_E278K,Missense_E278K,Missense_E278K exm1634379 X 37953620 [T/C] NM_138780,NM_001163335,NM_001163334 SYTL5,SYTL5,SYTL5 EXON Missense_R302C,Missense_R302C,Missense_R302C exm1634380 X 37953621 [A/G] NM_138780,NM_001163335,NM_001163334 SYTL5,SYTL5,SYTL5 EXON Missense_R302H,Missense_R302H,Missense_R302H exm1634385 X 37953663 [T/C] NM_138780,NM_001163335,NM_001163334 SYTL5,SYTL5,SYTL5 EXON Missense_T316I,Missense_T316I,Missense_T316I exm1634391 X 37955487 [C/G] NM_138780,NM_001163335,NM_001163334 SYTL5,SYTL5,SYTL5 EXON Missense_K354N,Missense_K354N,Missense_K354N exm1634393 X 37961637 [T/C] NM_138780,NM_001163335,NM_001163334 SYTL5,SYTL5,SYTL5 EXON Missense_S369P,Missense_S369P,Missense_S369P exm1634395 X 37961665 [A/G] NM_138780,NM_001163335,NM_001163334 SYTL5,SYTL5,SYTL5 EXON Missense_R378H,Missense_R378H,Missense_R378H exm1634404 X 37966024 [T/C] NM_138780,NM_001163335,NM_001163334 SYTL5,SYTL5,SYTL5 EXON Missense_A445V,Missense_A445V,Missense_A467V exm1634418 X 37979668 [T/C] NM_138780,NM_001163335,NM_001163334 SYTL5,SYTL5,SYTL5 EXON Missense_R552C,Missense_R552C,Missense_R574C exm1634421 X 37981371 [A/C] NM_138780,NM_001163335,NM_001163334 SYTL5,SYTL5,SYTL5 EXON Missense_P582T,Missense_P582T,Missense_P604T exm1634428 X 37985894 [T/C] NM_138780,NM_001163335,NM_001163334 SYTL5,SYTL5,SYTL5 EXON Missense_R702C,Missense_R702C,Missense_R724C exm1634429 X 37985895 [A/G] NM_138780,NM_001163335,NM_001163334 SYTL5,SYTL5,SYTL5 EXON Missense_R702H,Missense_R702H,Missense_R724H exm1634440 X 38009102 [A/C] NM_006307,NM_001170750,NM_001170751,NM_001170752 SRPX,SRPX,SRPX,SRPX EXON Synonymous_V419V,Synonymous_V399V,Synonymous_V360V,Nonsense_G379X exm1634443 X 38009121 [A/G] NM_006307,NM_001170750,NM_001170751,NM_001170752 SRPX,SRPX,SRPX,SRPX EXON Missense_S413F,Missense_S393F,Missense_S354F,Synonymous_L372L exm2210858 X 38013743 [T/A] NM_006307,NM_001170750,NM_001170751,NM_001170752 SRPX,SRPX,SRPX,SRPX EXON Missense_M395L,Missense_M375L,Missense_M336L,Silent exm1634447 X 38013811 [A/C] NM_006307,NM_001170750,NM_001170751,NM_001170752 SRPX,SRPX,SRPX,SRPX EXON Missense_R372L,Missense_R352L,Missense_R313L,Silent exm1634451 X 38016255 [A/G] NM_006307,NM_001170750,NM_001170751,NM_001170752 SRPX,SRPX,SRPX,SRPX EXON Missense_T328M,Missense_T308M,Missense_T269M,Missense_T328M exm1634462 X 38019329 [A/C] NM_006307,NM_001170750,NM_001170751,NM_001170752 SRPX,SRPX,SRPX,SRPX EXON Missense_S299I,Missense_S279I,Missense_S240I,Missense_S299I exm1634468 X 38020192 [G/C] NM_006307,NM_001170750,NM_001170751,NM_001170752 SRPX,SRPX,SRPX,SRPX EXON Missense_V257L,Missense_V237L,Missense_V198L,Missense_V257L exm1634472 X 38020256 [T/G] NM_006307,NM_001170750,NM_001170751,NM_001170752 SRPX,SRPX,SRPX,SRPX EXON Missense_H235Q,Missense_H215Q,Missense_H176Q,Missense_H235Q exm1634473 X 38020285 [C/G] NM_006307,NM_001170750,NM_001170751,NM_001170752 SRPX,SRPX,SRPX,SRPX EXON Missense_P226A,Missense_P206A,Missense_P167A,Missense_P226A exm1634474 X 38020288 [A/G] NM_006307,NM_001170750,NM_001170751,NM_001170752 SRPX,SRPX,SRPX,SRPX EXON Missense_P225S,Missense_P205S,Missense_P166S,Missense_P225S exm1634480 X 38024079 [A/G] NM_006307,NM_001170750,NM_001170751,NM_001170752 SRPX,SRPX,SRPX,SRPX EXON Missense_V199A,Missense_V179A,Missense_V140A,Missense_V199A exm1634484 X 38024143 [C/G] NM_006307,NM_001170750,NM_001170751,NM_001170752 SRPX,SRPX,SRPX,SRPX EXON Missense_E178Q,Missense_E158Q,Missense_E119Q,Missense_E178Q exm1634486 X 38031151 [T/C] NM_006307,NM_001170750,NM_001170751,NM_001170752 SRPX,SRPX,SRPX,SRPX EXON Missense_R170Q,Missense_R150Q,Silent,Missense_R170Q exm1634488 X 38031191 [A/G] NM_006307,NM_001170750,NM_001170751,NM_001170752 SRPX,SRPX,SRPX,SRPX EXON Missense_R157W,Missense_R137W,Silent,Missense_R157W exm1634491 X 38031235 [T/C] NM_006307,NM_001170750,NM_001170751,NM_001170752 SRPX,SRPX,SRPX,SRPX EXON Missense_R142Q,Missense_R122Q,Silent,Missense_R142Q exm1634496 X 38033415 [T/C] NM_006307,NM_001170750,NM_001170751,NM_001170752 SRPX,SRPX,SRPX,SRPX EXON Missense_K116R,Missense_K96R,Missense_K116R,Missense_K116R exm1634500 X 38033538 [A/C] NM_006307,NM_001170750,NM_001170751,NM_001170752 SRPX,SRPX,SRPX,SRPX EXON Missense_G75V,Missense_G55V,Missense_G75V,Missense_G75V exm2210877 X 38037546 [T/C] NM_006307,NM_001170750,NM_001170751,NM_001170752 SRPX,SRPX,SRPX,SRPX EXON Missense_R50K,Silent,Missense_R50K,Missense_R50K exm2273114 X 38093868 [T/C] exm1634516 X 38128962 [T/C] NM_000328 RPGR EXON Missense_D789N exm1634517 X 38129003 [A/G] NM_000328 RPGR EXON Missense_I775T exm1634518 X 38129004 [T/C] NM_000328 RPGR EXON Missense_I775V exm1634520 X 38129025 [T/G] NM_000328 RPGR EXON Missense_P768T exm1634527 X 38144822 [T/C] NM_000328,NM_001034853 RPGR,RPGR EXON Silent,Missense_V1144I exm1634528 X 38144845 [T/C] NM_000328,NM_001034853 RPGR,RPGR EXON Silent,Missense_G1136D exm1634530 X 38144881 [T/A] NM_000328,NM_001034853 RPGR,RPGR EXON Silent,Missense_V1124D exm1634639 X 38145841 [T/C] NM_000328,NM_001034853 RPGR,RPGR EXON Silent,Missense_R804K exm1634643 X 38145911 [T/C] NM_000328,NM_001034853 RPGR,RPGR EXON Silent,Missense_A781T exm1634665 X 38147146 [A/G] NM_000328,NM_001034853 RPGR,RPGR EXON Missense_T574M,Missense_T574M exm1634667 X 38147158 [A/G] NM_000328,NM_001034853 RPGR,RPGR EXON Missense_T570M,Missense_T570M exm1634668 X 38147170 [T/C] NM_000328,NM_001034853 RPGR,RPGR EXON Missense_G566E,Missense_G566E exm1634672 X 38147269 [A/G] NM_000328,NM_001034853 RPGR,RPGR EXON Missense_T533M,Missense_T533M exm1634680 X 38156584 [T/C] NM_000328,NM_001034853 RPGR,RPGR EXON Missense_Q456R,Missense_Q456R exm1634681 X 38156655 [T/A] NM_000328,NM_001034853 RPGR,RPGR EXON Missense_E432D,Missense_E432D exm1634683 X 38156660 [T/C] NM_000328,NM_001034853 RPGR,RPGR EXON Missense_I431V,Missense_I431V exm1634684 X 38156677 [T/C] NM_000328,NM_001034853 RPGR,RPGR EXON Missense_R425K,Missense_R425K exm1634687 X 38158214 [G/C] NM_000328,NM_001034853 RPGR,RPGR EXON Missense_E414Q,Missense_E414Q exm1634699 X 38160526 [T/C] NM_000328,NM_001034853 RPGR,RPGR EXON Missense_N345D,Missense_N345D exm1634700 X 38163917 [G/C] NM_000328,NM_001034853 RPGR,RPGR EXON Missense_C302S,Missense_C302S exm1634701 X 38163957 [T/C] NM_000328,NM_001034853 RPGR,RPGR EXON Missense_I289V,Missense_I289V exm1634702 X 38164037 [C/G] NM_000328,NM_001034853 RPGR,RPGR EXON Missense_A262G,Missense_A262G exm1634706 X 38176636 [A/C] NM_000328,NM_001034853 RPGR,RPGR EXON Missense_Q184H,Missense_Q184H exm1634707 X 38176717 [T/C] NM_000328,NM_001034853 RPGR,RPGR EXON Synonymous_E157E,Synonymous_E157E exm1634712 X 38182130 [T/C] NM_000328,NM_001034853 RPGR,RPGR EXON Missense_I75V,Missense_I75V exm1634714 X 38182653 [A/G] NM_000328,NM_001034853 RPGR,RPGR EXON Synonymous_T51T,Synonymous_T51T exm1634718 X 38182776 [T/A] NM_000328,NM_001034853 RPGR,RPGR EXON Missense_D10E,Missense_D10E exm1634727 X 38226603 [A/G] NM_000531 OTC EXON Missense_K46R exm1634728 X 38226606 [A/C] NM_000531 OTC EXON Missense_N47T exm1634730 X 38226615 [G/C] NM_000531 OTC EXON Missense_G50A exm1634743 X 38260670 [T/C] NM_000531 OTC EXON Missense_L177F exm1634756 X 38268220 [A/G] NM_000531 OTC EXON Missense_Q270R exm1634760 X 38271188 [A/C] NM_000531 OTC EXON Missense_E314A exm1634762 X 38280282 [A/C] NM_000531 OTC EXON Missense_M338L exm1634774 X 38533570 [T/C] NM_004615 TSPAN7 EXON Synonymous_S147S exm1634775 X 38535020 [A/G] NM_004615 TSPAN7 EXON Missense_H168R exm1634776 X 38535032 [A/C] NM_004615 TSPAN7 EXON Missense_P172H exm1634802 X 38664744 [A/G] NM_001098791,NM_001098790,NM_021242 MID1IP1,MID1IP1,MID1IP1 EXON Missense_G182D,Missense_G182D,Missense_G182D exm2273116 X 39005899 [T/C] exm2273244 X 39071471 [T/C] exm2263066 X 39858660 [A/G] exm1634849 X 39911528 [A/C] NM_001123383,NM_001123384,NM_001123385,NM_017745 BCOR,BCOR,BCOR,BCOR EXON Missense_V1667G,Missense_V1649G,Missense_V1701G,Missense_V1667G exm1634850 X 39911534 [T/C] NM_001123383,NM_001123384,NM_001123385,NM_017745 BCOR,BCOR,BCOR,BCOR EXON Missense_R1665Q,Missense_R1647Q,Missense_R1699Q,Missense_R1665Q exm1634860 X 39913155 [C/G] NM_001123383,NM_001123384,NM_001123385,NM_017745 BCOR,BCOR,BCOR,BCOR EXON Missense_V1620L,Missense_V1602L,Missense_V1654L,Missense_V1620L exm1634865 X 39914638 [A/G] NM_001123383,NM_001123384,NM_001123385,NM_017745 BCOR,BCOR,BCOR,BCOR EXON Missense_M1541T,Missense_M1523T,Missense_M1575T,Missense_M1541T exm2210957 X 39921535 [A/C] NM_001123383,NM_001123384,NM_001123385,NM_017745 BCOR,BCOR,BCOR,BCOR EXON Missense_S1395A,Missense_S1377A,Missense_S1429A,Missense_S1395A exm1634884 X 39922158 [T/G] NM_001123383,NM_001123384,NM_001123385,NM_017745 BCOR,BCOR,BCOR,BCOR EXON Missense_E1304D,Missense_E1286D,Missense_E1338D,Missense_E1304D exm1634893 X 39922906 [T/C] NM_001123383,NM_001123384,NM_001123385,NM_017745 BCOR,BCOR,BCOR,BCOR EXON Missense_R1234G,Missense_R1216G,Missense_R1268G,Missense_R1234G exm1634909 X 39923678 [A/G] NM_001123383,NM_001123384,NM_001123385,NM_017745 BCOR,BCOR,BCOR,BCOR EXON Missense_V1138A,Missense_V1120A,Missense_V1138A,Missense_V1138A exm1634918 X 39930238 [T/C] NM_001123383,NM_001123384,NM_001123385,NM_017745 BCOR,BCOR,BCOR,BCOR EXON Missense_E1076K,Missense_E1058K,Missense_E1076K,Missense_E1076K exm1634941 X 39932087 [A/G] NM_001123383,NM_001123384,NM_001123385,NM_017745 BCOR,BCOR,BCOR,BCOR EXON Missense_P838S,Missense_P838S,Missense_P838S,Missense_P838S exm1634944 X 39932176 [A/T] NM_001123383,NM_001123384,NM_001123385,NM_017745 BCOR,BCOR,BCOR,BCOR EXON Missense_L808H,Missense_L808H,Missense_L808H,Missense_L808H exm2210984 X 39932311 [A/C] NM_001123383,NM_001123384,NM_001123385,NM_017745 BCOR,BCOR,BCOR,BCOR EXON Missense_R763L,Missense_R763L,Missense_R763L,Missense_R763L exm1634953 X 39932470 [T/C] NM_001123383,NM_001123384,NM_001123385,NM_017745 BCOR,BCOR,BCOR,BCOR EXON Missense_R710H,Missense_R710H,Missense_R710H,Missense_R710H exm1634955 X 39932564 [T/C] NM_001123383,NM_001123384,NM_001123385,NM_017745 BCOR,BCOR,BCOR,BCOR EXON Missense_V679I,Missense_V679I,Missense_V679I,Missense_V679I exm1634958 X 39932591 [A/G] NM_001123383,NM_001123384,NM_001123385,NM_017745 BCOR,BCOR,BCOR,BCOR EXON Missense_P670S,Missense_P670S,Missense_P670S,Missense_P670S exm2262810 X 39932907 [T/C] NM_001123383,NM_001123384,NM_001123385,NM_017745 BCOR,BCOR,BCOR,BCOR EXON Synonymous_A564A,Synonymous_A564A,Synonymous_A564A,Synonymous_A564A exm1634970 X 39932930 [T/C] NM_001123383,NM_001123384,NM_001123385,NM_017745 BCOR,BCOR,BCOR,BCOR EXON Missense_V557I,Missense_V557I,Missense_V557I,Missense_V557I exm1634991 X 39933653 [A/G] NM_001123383,NM_001123384,NM_001123385,NM_017745 BCOR,BCOR,BCOR,BCOR EXON Missense_P316S,Missense_P316S,Missense_P316S,Missense_P316S exm1635003 X 39933973 [A/G] NM_001123383,NM_001123384,NM_001123385,NM_017745 BCOR,BCOR,BCOR,BCOR EXON Missense_S209L,Missense_S209L,Missense_S209L,Missense_S209L exm1635010 X 39934117 [A/G] NM_001123383,NM_001123384,NM_001123385,NM_017745 BCOR,BCOR,BCOR,BCOR EXON Missense_A161V,Missense_A161V,Missense_A161V,Missense_A161V exm1635020 X 39934357 [T/C] NM_001123383,NM_001123384,NM_001123385,NM_017745 BCOR,BCOR,BCOR,BCOR EXON Missense_G81E,Missense_G81E,Missense_G81E,Missense_G81E exm1635022 X 39934376 [A/T] NM_001123383,NM_001123384,NM_001123385,NM_017745 BCOR,BCOR,BCOR,BCOR EXON Missense_T75S,Missense_T75S,Missense_T75S,Missense_T75S exm1635024 X 39935709 [T/C] NM_001123383,NM_001123384,NM_001123385,NM_017745 BCOR,BCOR,BCOR,BCOR EXON Missense_V55M,Missense_V55M,Missense_V55M,Missense_V55M exm2248786 X 39935760 [T/C] NM_001123383,NM_001123384,NM_001123385,NM_017745 BCOR,BCOR,BCOR,BCOR EXON Missense_A38T,Missense_A38T,Missense_A38T,Missense_A38T exm2263067 X 40344087 [A/G] exm1635037 X 40450585 [G/C] NM_005765 ATP6AP2 EXON Missense_P90A exm1635064 X 40489902 [T/C] NM_144970 CXorf38 EXON Missense_E309K exm1635065 X 40489947 [T/G] NM_144970 CXorf38 EXON Missense_Q294K exm1635075 X 40495957 [A/G] NM_144970 CXorf38 EXON Missense_T210M exm1635080 X 40496354 [T/C] NM_144970 CXorf38 EXON Missense_T176A exm1635081 X 40498263 [G/C] NM_144970 CXorf38 EXON Missense_E157Q exm1635114 X 40523654 [T/G] NM_004229 MED14 EXON Missense_P1118H exm1635124 X 40539136 [A/G] NM_004229 MED14 EXON Missense_Y954H exm1635132 X 40541866 [T/C] NM_004229 MED14 EXON Missense_R785H exm1635139 X 40551476 [T/C] NM_004229 MED14 EXON Missense_M647V exm1635141 X 40551980 [T/C] NM_004229 MED14 EXON Missense_R609G exm1635144 X 40552019 [G/C] NM_004229 MED14 EXON Missense_Q596E exm1635147 X 40552129 [T/C] NM_004229 MED14 EXON Missense_N559S exm1635153 X 40560491 [G/C] NM_004229 MED14 EXON Missense_Q472H exm2273246 X 40684693 [T/C] exm2273117 X 40947596 [T/C] NM_001039591,NM_001039590 USP9X,USP9X Silent,Silent exm1635209 X 40990753 [T/G] NM_001039591,NM_001039590 USP9X,USP9X EXON Missense_V96L,Missense_V96L exm1635288 X 41075904 [T/C] NM_001039591,NM_001039590 USP9X,USP9X EXON Synonymous_P2028P,Synonymous_P2028P exm1635294 X 41077775 [A/G] NM_001039591,NM_001039590 USP9X,USP9X EXON Missense_I2120M,Missense_I2120M exm2273118 X 41123251 [T/C] exm1635345 X 41205659 [A/C] NM_001356,NM_001193416,NM_001193417 DDX3X,DDX3X,DDX3X EXON Missense_T498K,Missense_T498K,Missense_T482K exm2273247 X 41265035 [T/C] exm1635396 X 41333886 [T/C] NM_022567 NYX EXON Missense_L394F exm2211172 X 41333904 [A/G] NM_022567 NYX EXON Missense_G400S exm1635400 X 41333923 [C/G] NM_022567 NYX EXON Missense_A406G exm1635402 X 41333950 [A/G] NM_022567 NYX EXON Missense_S415N exm1635429 X 41393979 [T/C] NM_001126055,NM_001126054,NM_003688 CASK,CASK,CASK EXON Missense_R737Q,Missense_R738Q,Missense_R761Q exm1635432 X 41394210 [A/G] NM_001126055,NM_001126054,NM_003688 CASK,CASK,CASK EXON Synonymous_D695D,Synonymous_D696D,Synonymous_D719D exm1635450 X 41446185 [T/C] NM_001126055,NM_001126054,NM_003688 CASK,CASK,CASK EXON Missense_R424H,Missense_R430H,Missense_R430H exm1635469 X 41554957 [A/G] NM_001126055,NM_001126054,NM_003688,NM_001097579,NM_005300 CASK,CASK,CASK,GPR34,GPR34 EXON Silent,Silent,Silent,Missense_R24H,Missense_R24H exm1635482 X 41555677 [T/C] NM_001126055,NM_001126054,NM_003688,NM_001097579,NM_005300 CASK,CASK,CASK,GPR34,GPR34 EXON Silent,Silent,Silent,Missense_T264I,Missense_T264I exm1635484 X 41555770 [A/G] NM_001126055,NM_001126054,NM_003688,NM_001097579,NM_005300 CASK,CASK,CASK,GPR34,GPR34 EXON Silent,Silent,Silent,Missense_N295S,Missense_N295S exm1635495 X 41586833 [A/G] NM_001126055,NM_001126054,NM_003688,NM_080817 CASK,CASK,CASK,GPR82 EXON Silent,Silent,Silent,Missense_S185N exm1635498 X 41586957 [A/C] NM_001126055,NM_001126054,NM_003688,NM_080817 CASK,CASK,CASK,GPR82 EXON Silent,Silent,Silent,Missense_S226R exm1635504 X 41587155 [C/G] NM_001126055,NM_001126054,NM_003688,NM_080817 CASK,CASK,CASK,GPR82 EXON Silent,Silent,Silent,Missense_N292K exm1635506 X 41587247 [T/C] NM_001126055,NM_001126054,NM_003688,NM_080817 CASK,CASK,CASK,GPR82 EXON Silent,Silent,Silent,Missense_L323P exm2264751 X 41749282 [A/C] NM_001126055,NM_001126054,NM_003688 CASK,CASK,CASK Silent,Silent,Silent exm2263071 X 41908956 [T/C] exm2273248 X 42151010 [T/G] exm2273249 X 42923587 [T/C] exm2264753 X 43152499 [A/C] exm2262816 X 43567173 [T/C] NM_001270458,NM_000240 MAOA,MAOA Silent,Silent exm1635527 X 43587431 [A/G] NM_001270458,NM_000240 MAOA,MAOA EXON Missense_R39Q,Missense_R172Q exm1635532 X 43590524 [A/G] NM_001270458,NM_000240 MAOA,MAOA EXON Missense_E95K,Missense_E228K exm1635542 X 43591078 [T/G] NM_001270458,NM_000240 MAOA,MAOA EXON Missense_K178N,Missense_K311N exm1635557 X 43603702 [T/C] NM_001270458,NM_000240 MAOA,MAOA EXON Missense_T376I,Missense_T509I exm1635559 X 43603735 [A/G] NM_001270458,NM_000240 MAOA,MAOA EXON Missense_K387R,Missense_K520R exm-rs3027409 X 43607033 [T/G] exm1635563 X 43626762 [A/G] NM_000898 MAOB EXON Missense_T505M exm1635565 X 43626832 [T/A] NM_000898 MAOB EXON Missense_L482M exm1635600 X 43656509 [A/C] NM_000898 MAOB EXON Missense_A161S exm1635605 X 43662605 [A/G] NM_000898 MAOB EXON Missense_P109L exm1635607 X 43698133 [T/C] NM_000898 MAOB EXON Missense_R87H exm1635610 X 43698218 [A/C] NM_000898 MAOB EXON Missense_S59A exm1635622 X 43817791 [A/G] NM_000266 NDP EXON Missense_S34L exm1635624 X 43817823 [C/G] NM_000266 NDP EXON Missense_D23E exm1635635 X 44037776 [T/C] NM_025184 EFHC2 EXON Missense_A596T exm1635637 X 44088950 [T/C] NM_025184 EFHC2 EXON Missense_V566I exm1635643 X 44091831 [T/C] NM_025184 EFHC2 EXON Missense_E506K exm1635645 X 44091890 [T/C] NM_025184 EFHC2 EXON Missense_R486H exm1635648 X 44094618 [T/C] NM_025184 EFHC2 EXON Missense_M452I exm1635653 X 44094685 [T/G] NM_025184 EFHC2 EXON Missense_S430Y exm1635656 X 44101434 [A/G] NM_025184 EFHC2 EXON Missense_R405C exm1635664 X 44109666 [T/C] NM_025184 EFHC2 EXON Missense_R211H exm1635679 X 44171845 [A/T] NM_025184 EFHC2 EXON Missense_D67V exm1635681 X 44171875 [T/C] NM_025184 EFHC2 EXON Missense_C57Y exm1635682 X 44171953 [T/C] NM_025184 EFHC2 EXON Missense_N31S exm1635686 X 44202800 [T/C] NM_025184 EFHC2 EXON Missense_N12S exm2273251 X 44360233 [T/G] exm-rs6610953 X 44400186 [A/G] NM_173794 FUNDC1 Silent exm1635696 X 44402065 [T/A] NM_173794 FUNDC1 EXON Missense_N5I exm2268479 X 44431921 [A/G] exm2263077 X 44641744 [A/C] exm1635697 X 44703415 [A/G] NM_022076 DUSP21 EXON Missense_G13S exm1635705 X 44703703 [T/G] NM_022076 DUSP21 EXON Nonsense_G109X exm1635718 X 44703935 [T/C] NM_022076 DUSP21 EXON Missense_M186T exm1635760 X 44920641 [T/C] NM_021140 KDM6A EXON Missense_C468R exm1635771 X 44922880 [A/G] NM_021140 KDM6A EXON Missense_T581A exm1635772 X 44922890 [T/C] NM_021140 KDM6A EXON Missense_T584M exm1635784 X 44928956 [T/C] NM_021140 KDM6A EXON Missense_P686S exm1635787 X 44929077 [A/C] NM_021140 KDM6A EXON Missense_T726K exm1635789 X 44929152 [A/T] NM_021140 KDM6A EXON Missense_V751D exm1635792 X 44929231 [A/T] NM_021140 KDM6A EXON Missense_N777K exm1635801 X 44935971 [G/C] NM_021140 KDM6A EXON Missense_S911T exm1635809 X 44938550 [A/C] NM_021140 KDM6A EXON Missense_A1033D exm1635813 X 44941855 [T/A] NM_021140 KDM6A EXON Missense_H1060L exm1635826 X 44966743 [A/G] NM_021140 KDM6A EXON Missense_T1323A exm1635836 X 45011018 [A/C] NM_176819 CXorf36 EXON Missense_R394L exm1635837 X 45011028 [C/G] NM_176819 CXorf36 EXON Missense_D391H exm1635842 X 45011096 [T/C] NM_176819 CXorf36 EXON Missense_R368Q exm1635869 X 45051042 [A/G] NM_176819,NM_024689 CXorf36,CXorf36 EXON Missense_F151S,Missense_F151S exm1635870 X 45051057 [T/C] NM_176819,NM_024689 CXorf36,CXorf36 EXON Missense_R146Q,Missense_R146Q exm1635871 X 45051066 [A/C] NM_176819,NM_024689 CXorf36,CXorf36 EXON Missense_R143L,Missense_R143L exm1635874 X 45051096 [T/G] NM_176819,NM_024689 CXorf36,CXorf36 EXON Missense_A133E,Missense_A133E exm1635875 X 45051111 [T/C] NM_176819,NM_024689 CXorf36,CXorf36 EXON Missense_R128K,Missense_R128K exm1635878 X 45051181 [A/G] NM_176819,NM_024689 CXorf36,CXorf36 EXON Missense_S105P,Missense_S105P exm2211364 X 45059862 [C/G] NM_176819,NM_024689 CXorf36,CXorf36 EXON Missense_K70N,Missense_K70N exm1635884 X 45059998 [G/C] NM_176819,NM_024689 CXorf36,CXorf36 EXON Missense_A25G,Missense_A25G exm1635885 X 45059999 [T/C] NM_176819,NM_024689 CXorf36,CXorf36 EXON Missense_A25T,Missense_A25T exm2268480 X 45366130 [A/G] exm2262818 X 45564320 [T/C] exm2263080 X 45764542 [T/C] exm2273253 X 46064806 [T/C] exm2263081 X 46171515 [T/G] exm2211374 X 46332288 [A/C] NM_001129898,NM_001129900,NM_001129899,NM_017776 KRBOX4,KRBOX4,KRBOX4,KRBOX4 EXON Missense_S119R,Silent,Silent,Missense_S114R exm1635910 X 46332335 [A/G] NM_001129898,NM_001129900,NM_001129899,NM_017776 KRBOX4,KRBOX4,KRBOX4,KRBOX4 EXON Missense_E135G,Silent,Silent,Missense_E130G exm1635913 X 46332422 [A/G] NM_001129898,NM_001129900,NM_001129899,NM_017776 KRBOX4,KRBOX4,KRBOX4,KRBOX4 EXON Nonsense_W164X,Silent,Silent,Nonsense_W159X exm1635917 X 46359390 [A/C] NM_001190417,NM_001039891,NM_001146291 ZNF674,ZNF674,ZNF674 EXON Missense_R540I,Missense_R545I,Missense_R539I exm1635924 X 46359700 [A/C] NM_001190417,NM_001039891,NM_001146291 ZNF674,ZNF674,ZNF674 EXON Nonsense_E437X,Nonsense_E442X,Nonsense_E436X exm1635926 X 46359729 [T/C] NM_001190417,NM_001039891,NM_001146291 ZNF674,ZNF674,ZNF674 EXON Missense_H427R,Missense_H432R,Missense_H426R exm1635929 X 46359899 [A/C] NM_001190417,NM_001039891,NM_001146291 ZNF674,ZNF674,ZNF674 EXON Missense_H370Q,Missense_H375Q,Missense_H369Q exm1635930 X 46359940 [T/G] NM_001190417,NM_001039891,NM_001146291 ZNF674,ZNF674,ZNF674 EXON Missense_H357N,Missense_H362N,Missense_H356N exm1635932 X 46359996 [A/G] NM_001190417,NM_001039891,NM_001146291 ZNF674,ZNF674,ZNF674 EXON Missense_T338M,Missense_T343M,Missense_T337M exm1635935 X 46360125 [T/C] NM_001190417,NM_001039891,NM_001146291 ZNF674,ZNF674,ZNF674 EXON Missense_R295Q,Missense_R300Q,Missense_R294Q exm1635952 X 46360599 [A/C] NM_001190417,NM_001039891,NM_001146291 ZNF674,ZNF674,ZNF674 EXON Missense_R137I,Missense_R142I,Missense_R136I exm1636017 X 46495061 [T/C] NM_001257291,NM_032591 SLC9A7,SLC9A7 EXON Missense_E547K,Missense_E546K exm1636018 X 46495073 [T/C] NM_001257291,NM_032591 SLC9A7,SLC9A7 EXON Missense_E543K,Missense_E542K exm1636021 X 46502684 [A/G] NM_001257291,NM_032591 SLC9A7,SLC9A7 EXON Missense_W535R,Missense_W534R exm1636023 X 46510565 [T/C] NM_001257291,NM_032591 SLC9A7,SLC9A7 EXON Missense_I444V,Missense_I443V exm1636029 X 46513045 [T/A] NM_001257291,NM_032591 SLC9A7,SLC9A7 EXON Synonymous_T382T,Synonymous_T381T exm1636042 X 46532035 [T/C] NM_001257291,NM_032591 SLC9A7,SLC9A7 EXON Missense_I211V,Missense_I211V exm1636048 X 46618319 [T/G] NM_001257291,NM_032591 SLC9A7,SLC9A7 EXON Missense_E49A,Missense_E49A exm1636056 X 46696602 [T/C] NM_006915 RP2 EXON Missense_R23W exm1636058 X 46712929 [A/G] NM_006915 RP2 EXON Missense_M41V exm1636061 X 46713004 [A/G] NM_006915 RP2 EXON Missense_D66N exm1636064 X 46713068 [T/C] NM_006915 RP2 EXON Missense_T87I exm1636073 X 46713409 [A/G] NM_006915 RP2 EXON Missense_I201V exm1636080 X 46713505 [A/G] NM_006915 RP2 EXON Missense_D233N exm1636087 X 46739152 [A/C] NM_006915 RP2 EXON Missense_S334Y exm2268481 X 46786796 [A/G] NM_001077445,NM_014735 PHF16,PHF16 Silent,Silent exm2262820 X 46840532 [T/G] NM_001077445,NM_014735 PHF16,PHF16 Silent,Silent exm2211441 X 46884166 [A/C] NM_001077445,NM_014735 PHF16,PHF16 EXON Missense_P109T,Missense_P109T exm1636098 X 46884268 [A/G] NM_001077445,NM_014735 PHF16,PHF16 EXON Missense_M143V,Missense_M143V exm1636108 X 46913839 [A/G] NM_001077445,NM_014735 PHF16,PHF16 EXON Missense_A418T,Missense_A418T exm1636124 X 46917760 [T/C] NM_001077445,NM_014735 PHF16,PHF16 EXON Missense_S585P,Missense_S585P exm1636135 X 46918243 [T/C] NM_001077445,NM_014735 PHF16,PHF16 EXON Missense_F746L,Missense_F746L exm1636137 X 46918388 [T/C] NM_001077445,NM_014735 PHF16,PHF16 EXON Missense_S794L,Missense_S794L exm1636141 X 46918450 [C/G] NM_001077445,NM_014735 PHF16,PHF16 EXON Missense_P815A,Missense_P815A exm2211462 X 46943820 [T/C] NM_004683,NM_152869 RGN,RGN EXON Missense_A56V,Missense_A56V exm1636151 X 46943954 [T/C] NM_004683,NM_152869 RGN,RGN EXON Missense_R101C,Missense_R101C exm1636152 X 46943961 [A/G] NM_004683,NM_152869 RGN,RGN EXON Missense_N103S,Missense_N103S exm1636160 X 46949281 [G/C] NM_004683,NM_152869 RGN,RGN EXON Missense_D151E,Missense_D151E exm1636165 X 46951083 [A/G] NM_004683,NM_152869 RGN,RGN EXON Missense_R190H,Missense_R190H exm1636167 X 46951191 [T/G] NM_004683,NM_152869 RGN,RGN EXON Missense_R226L,Missense_R226L exm1636171 X 46951573 [A/G] NM_004683,NM_152869 RGN,RGN EXON Missense_E270K,Missense_E270K exm1636185 X 47002122 [T/C] NM_019056,NM_001135998 NDUFB11,NDUFB11 EXON Missense_D77N,Missense_D77N exm1636190 X 47003927 [T/G] NM_019056,NM_001135998 NDUFB11,NDUFB11 EXON Missense_P51Q,Missense_P51Q exm1636222 X 47039832 [A/G] NM_152856,NM_005676,NM_001204468,NM_001204467,NM_001204466 RBM10,RBM10,RBM10,RBM10,RBM10 EXON Missense_N314S,Missense_N392S,Missense_N457S,Missense_N391S,Missense_N315S exm1636228 X 47040742 [A/C] NM_152856,NM_005676,NM_001204468,NM_001204467,NM_001204466 RBM10,RBM10,RBM10,RBM10,RBM10 EXON Nonsense_Y381X,Nonsense_Y459X,Nonsense_Y524X,Nonsense_Y458X,Nonsense_Y382X exm1636230 X 47040915 [G/C] NM_152856,NM_005676,NM_001204468,NM_001204467,NM_001204466 RBM10,RBM10,RBM10,RBM10,RBM10 EXON Missense_A404G,Missense_A482G,Missense_A547G,Missense_A481G,Missense_A405G exm1636290 X 47061812 [A/G] NM_153280,NM_003334 UBA1,UBA1 EXON Missense_K322R,Missense_K322R exm1636305 X 47062534 [A/G] NM_153280,NM_003334 UBA1,UBA1 EXON Missense_R447H,Missense_R447H exm1636307 X 47062594 [A/G] NM_153280,NM_003334 UBA1,UBA1 EXON Missense_G467D,Missense_G467D exm1636311 X 47063006 [A/G] NM_153280,NM_003334 UBA1,UBA1 EXON Missense_E496K,Missense_E496K exm1636316 X 47065473 [G/C] NM_153280,NM_003334 UBA1,UBA1 EXON Missense_L568V,Missense_L568V exm1636331 X 47070468 [A/C] NM_153280,NM_003334 UBA1,UBA1 EXON Missense_N770H,Missense_N770H exm1636333 X 47070511 [A/G] NM_153280,NM_003334 UBA1,UBA1 EXON Missense_R784Q,Missense_R784Q exm1636370 X 47082520 [A/G] NM_033018,NM_006201,NM_001170460 CDK16,CDK16,CDK16 EXON Silent,Silent,Missense_D9G exm1636373 X 47082672 [T/C] NM_033018,NM_006201,NM_001170460 CDK16,CDK16,CDK16 EXON Silent,Silent,Missense_P60S exm1636375 X 47082981 [T/C] NM_033018,NM_006201,NM_001170460 CDK16,CDK16,CDK16 EXON Missense_R15W,Missense_R9W,Missense_R83W exm1636378 X 47083105 [A/G] NM_033018,NM_006201,NM_001170460 CDK16,CDK16,CDK16 EXON Missense_R56H,Missense_R50H,Missense_R124H exm1636397 X 47085415 [T/C] NM_033018,NM_006201,NM_001170460 CDK16,CDK16,CDK16 EXON Missense_H267Y,Missense_H261Y,Missense_H335Y exm1636399 X 47085721 [A/G] NM_033018,NM_006201,NM_001170460 CDK16,CDK16,CDK16 EXON Missense_R285Q,Missense_R279Q,Missense_R353Q exm1636407 X 47086452 [A/G] NM_033018,NM_006201,NM_001170460 CDK16,CDK16,CDK16 EXON Missense_N405D,Missense_N399D,Missense_N473D exm1636423 X 47092423 [A/G] NM_004651 USP11 EXON Missense_C37Y exm1636425 X 47092450 [T/C] NM_004651 USP11 EXON Missense_T46M exm1636430 X 47098476 [C/G] NM_004651 USP11 EXON Missense_V105L exm1636472 X 47104176 [A/G] NM_004651 USP11 EXON Missense_V690I exm2211653 X 47106747 [T/C] NM_004651 USP11 EXON Missense_S865L exm-rs6611365 X 47174276 [A/G] exm1636511 X 47270087 [A/G] NM_003446 ZNF157 EXON Missense_V70M exm1636512 X 47271826 [T/A] NM_003446 ZNF157 EXON Missense_D118E exm1636513 X 47271836 [G/C] NM_003446 ZNF157 EXON Missense_L122V exm1636516 X 47271907 [G/C] NM_003446 ZNF157 EXON Missense_E145D exm1636521 X 47272127 [G/C] NM_003446 ZNF157 EXON Missense_E219Q exm1636537 X 47272490 [T/C] NM_003446 ZNF157 EXON Nonsense_R340X exm1636542 X 47272614 [T/C] NM_003446 ZNF157 EXON Missense_T381I exm1636547 X 47272769 [T/C] NM_003446 ZNF157 EXON Missense_R433W exm1636548 X 47272770 [A/G] NM_003446 ZNF157 EXON Missense_R433Q exm1636559 X 47272965 [A/G] NM_003446 ZNF157 EXON Missense_R498H exm1636560 X 47272970 [A/G] NM_003446 ZNF157 EXON Missense_T500A exm1636564 X 47306860 [G/C] NM_007130,NM_153380 ZNF41,ZNF41 EXON Missense_S770T,Missense_S770T exm1636566 X 47306954 [A/T] NM_007130,NM_153380 ZNF41,ZNF41 EXON Missense_I739L,Missense_I739L exm1636571 X 47307055 [T/C] NM_007130,NM_153380 ZNF41,ZNF41 EXON Missense_R705H,Missense_R705H exm1636577 X 47307172 [A/G] NM_007130,NM_153380 ZNF41,ZNF41 EXON Missense_A666V,Missense_A666V exm1636589 X 47307437 [A/G] NM_007130,NM_153380 ZNF41,ZNF41 EXON Missense_H578Y,Missense_H578Y exm1636590 X 47307475 [T/C] NM_007130,NM_153380 ZNF41,ZNF41 EXON Missense_R565H,Missense_R565H exm1636605 X 47307845 [T/C] NM_007130,NM_153380 ZNF41,ZNF41 EXON Missense_A442T,Missense_A442T exm1636615 X 47308224 [A/C] NM_007130,NM_153380 ZNF41,ZNF41 EXON Missense_D315E,Missense_D315E exm1636617 X 47308268 [A/G] NM_007130,NM_153380 ZNF41,ZNF41 EXON Missense_C301R,Missense_C301R exm1636623 X 47308423 [T/G] NM_007130,NM_153380 ZNF41,ZNF41 EXON Missense_E249A,Missense_E249A exm1636626 X 47308509 [A/C] NM_007130,NM_153380 ZNF41,ZNF41 EXON Missense_N220K,Missense_N220K exm1636629 X 47308579 [T/C] NM_007130,NM_153380 ZNF41,ZNF41 EXON Missense_K197R,Missense_K197R exm1636630 X 47308647 [T/G] NM_007130,NM_153380 ZNF41,ZNF41 EXON Missense_K174N,Missense_K174N exm1636637 X 47308795 [A/C] NM_007130,NM_153380 ZNF41,ZNF41 EXON Missense_I125R,Missense_I125R exm1636638 X 47308837 [A/G] NM_007130,NM_153380 ZNF41,ZNF41 EXON Missense_P111L,Missense_P111L exm1636645 X 47315782 [T/C] NM_007130,NM_153380 ZNF41,ZNF41 EXON Missense_E30K,Missense_E30K exm1636650 X 47326816 [A/G] NM_007130,NM_153380 ZNF41,ZNF41 EXON Missense_S22L,Missense_S22L exm2211697 X 47326826 [A/G] NM_007130,NM_153380 ZNF41,ZNF41 EXON Missense_R19C,Missense_R19C exm2268482 X 47425058 [A/G] NM_001256196,NM_001256197,NM_001654 ARAF,ARAF,ARAF EXON Silent,Silent,Silent exm1636672 X 47426039 [T/C] NM_001256196,NM_001654 ARAF,ARAF EXON Missense_P190S,Missense_P187S exm1636690 X 47426495 [A/G] NM_001256196,NM_001654 ARAF,ARAF EXON Missense_E283K,Missense_E280K exm1636693 X 47426516 [A/G] NM_001256196,NM_001654 ARAF,ARAF EXON Missense_D290N,Missense_D287N exm1636697 X 47426689 [G/C] NM_001256196,NM_001654 ARAF,ARAF EXON Missense_L315V,Missense_L312V exm1636744 X 47434535 [A/G] NM_006950,NM_133499 SYN1,SYN1 EXON Missense_H433Y,Missense_H433Y exm1636761 X 47444361 [T/C] NM_006950,NM_133499,NM_003254 SYN1,SYN1,TIMP1 EXON Silent,Silent,Missense_P50S exm1636762 X 47444366 [A/C] NM_006950,NM_133499,NM_003254 SYN1,SYN1,TIMP1 EXON Silent,Silent,Missense_E51D exm1636775 X 47445978 [T/C] NM_006950,NM_133499,NM_003254 SYN1,SYN1,TIMP1 EXON Silent,Silent,Missense_T171M exm2211740 X 47446040 [T/C] NM_006950,NM_133499,NM_003254 SYN1,SYN1,TIMP1 EXON Silent,Silent,Missense_R192W exm1636777 X 47446041 [A/G] NM_006950,NM_133499,NM_003254 SYN1,SYN1,TIMP1 EXON Silent,Silent,Missense_R192Q exm1636816 X 47486217 [T/C] NM_002621,NM_001145252 CFP,CFP EXON Missense_D299N,Missense_D299N exm1636824 X 47486590 [A/G] NM_002621,NM_001145252 CFP,CFP EXON Missense_P239L,Missense_P239L exm1636826 X 47486641 [T/C] NM_002621,NM_001145252 CFP,CFP EXON Missense_R222H,Missense_R222H exm1636832 X 47486695 [A/G] NM_002621,NM_001145252 CFP,CFP EXON Missense_P204L,Missense_P204L exm1636836 X 47486968 [T/C] NM_002621,NM_001145252 CFP,CFP EXON Missense_R159H,Missense_R159H exm1636851 X 47488993 [T/C] NM_002621,NM_001145252 CFP,CFP EXON Missense_V53M,Missense_V53M exm1636854 X 47489062 [T/C] NM_002621,NM_001145252 CFP,CFP EXON Missense_V30M,Missense_V30M exm2268582 X 47494346 [A/G] exm2277431 X 47496281 [T/C] NM_001114123,NM_005229,NM_001257168 ELK1,ELK1,ELK1 EXON Missense_V412M,Missense_V412M,Silent exm1636865 X 47496443 [A/G] NM_001114123,NM_005229,NM_001257168 ELK1,ELK1,ELK1 EXON Missense_A386V,Missense_A386V,Synonymous_C93C exm1636877 X 47497523 [A/G] NM_001114123,NM_005229,NM_001257168 ELK1,ELK1,ELK1 EXON Missense_P238L,Missense_P238L,Silent exm1636895 X 47498518 [T/C] NM_001114123,NM_005229,NM_001257168 ELK1,ELK1,ELK1 EXON Missense_G144S,Missense_G144S,Silent exm2273122 X 47702865 [T/C] NM_007137 ZNF81 Silent exm1637005 X 47705674 [T/C] NM_007137 ZNF81 EXON Missense_A3V exm1637007 X 47747435 [A/G] NM_007137 ZNF81 EXON Missense_S31N exm1637010 X 47755291 [A/G] NM_007137 ZNF81 EXON Missense_E77K exm2248811 X 47755334 [A/G] NM_007137 ZNF81 EXON Missense_C91Y exm1637011 X 47774395 [T/G] NM_007137 ZNF81 EXON Missense_G117V exm1637012 X 47774462 [A/G] NM_007137 ZNF81 EXON Missense_I139M exm1637015 X 47774515 [A/G] NM_007137 ZNF81 EXON Missense_N157S exm1637017 X 47774554 [A/G] NM_007137 ZNF81 EXON Missense_K170R exm1637020 X 47774595 [C/G] NM_007137 ZNF81 EXON Missense_L184V exm1637021 X 47774599 [T/C] NM_007137 ZNF81 EXON Missense_S185L exm1637023 X 47774647 [T/A] NM_007137 ZNF81 EXON Missense_H201L exm1637025 X 47774683 [A/C] NM_007137 ZNF81 EXON Missense_A213E exm1637029 X 47774873 [T/G] NM_007137 ZNF81 EXON Missense_C276W exm1637039 X 47775309 [A/G] NM_007137 ZNF81 EXON Missense_A422T exm1637041 X 47775540 [A/G] NM_007137 ZNF81 EXON Missense_I499V exm1637077 X 47836782 [T/G] NM_001178099,NM_001007088,NM_006962 ZNF182,ZNF182,ZNF182 EXON Missense_E235A,Missense_E216A,Missense_E235A exm1637084 X 47836985 [T/C] NM_001178099,NM_001007088,NM_006962 ZNF182,ZNF182,ZNF182 EXON Missense_M167I,Missense_M148I,Missense_M167I exm1637087 X 47837065 [T/C] NM_001178099,NM_001007088,NM_006962 ZNF182,ZNF182,ZNF182 EXON Missense_G141R,Missense_G122R,Missense_G141R exm1637089 X 47837112 [T/C] NM_001178099,NM_001007088,NM_006962 ZNF182,ZNF182,ZNF182 EXON Missense_D125G,Missense_D106G,Missense_D125G exm1637093 X 47842356 [T/G] NM_001178099,NM_001007088,NM_006962 ZNF182,ZNF182,ZNF182 EXON Missense_N94K,Missense_N75K,Missense_N94K exm1637095 X 47842386 [G/C] NM_001178099,NM_001007088,NM_006962 ZNF182,ZNF182,ZNF182 EXON Missense_C84W,Missense_C65W,Missense_C84W exm1637096 X 47842699 [T/C] NM_001178099,NM_001007088,NM_006962 ZNF182,ZNF182,ZNF182 EXON Missense_N62S,Missense_N43S,Missense_N62S exm1637118 X 47918194 [A/G] NM_001037735,NR_033730,NM_001190255 ZNF630,ZNF630,ZNF630 EXON Missense_T546I,Silent,Missense_T532I exm1637125 X 47918405 [T/C] NM_001037735,NR_033730,NM_001190255 ZNF630,ZNF630,ZNF630 EXON Missense_G476S,Silent,Missense_G462S exm1637127 X 47918458 [C/G] NM_001037735,NR_033730,NM_001190255 ZNF630,ZNF630,ZNF630 EXON Missense_P458R,Silent,Missense_P444R exm1637129 X 47918521 [T/C] NM_001037735,NR_033730,NM_001190255 ZNF630,ZNF630,ZNF630 EXON Missense_G437E,Silent,Missense_G423E exm1637130 X 47918557 [T/C] NM_001037735,NR_033730,NM_001190255 ZNF630,ZNF630,ZNF630 EXON Missense_H425R,Silent,Missense_H411R exm1637135 X 47918621 [T/C] NM_001037735,NR_033730,NM_001190255 ZNF630,ZNF630,ZNF630 EXON Missense_E404K,Silent,Missense_E390K exm1637138 X 47918701 [G/C] NM_001037735,NR_033730,NM_001190255 ZNF630,ZNF630,ZNF630 EXON Missense_C377S,Silent,Missense_C363S exm1637143 X 47918879 [A/G] NM_001037735,NR_033730,NM_001190255 ZNF630,ZNF630,ZNF630 EXON Missense_P318S,Silent,Missense_P304S exm1637152 X 47919181 [A/G] NM_001037735,NR_033730,NM_001190255 ZNF630,ZNF630,ZNF630 EXON Missense_A217V,Silent,Missense_A203V exm1637154 X 47919235 [T/G] NM_001037735,NR_033730,NM_001190255 ZNF630,ZNF630,ZNF630 EXON Missense_A199E,Silent,Missense_A185E exm1637158 X 47919401 [A/G] NM_001037735,NR_033730,NM_001190255 ZNF630,ZNF630,ZNF630 EXON Missense_R144C,Silent,Missense_R130C exm1637161 X 47919485 [A/T] NM_001037735,NR_033730,NM_001190255 ZNF630,ZNF630,ZNF630 EXON Missense_L116I,Silent,Missense_L102I exm1637163 X 47919855 [T/C] NM_001037735,NR_033730,NM_001190255 ZNF630,ZNF630,ZNF630 EXON Missense_S71N,Silent,Missense_S57N exm1637165 X 47920248 [A/G] NM_001037735,NR_033730,NM_001190255 ZNF630,ZNF630,ZNF630 EXON Missense_T31I,Silent,Missense_T17I exm1637182 X 47970651 [C/G] NR_028366 SSX6 EXON Silent exm1637183 X 47970652 [A/G] NR_028366 SSX6 EXON Silent exm1637185 X 47970656 [A/C] NR_028366 SSX6 EXON Silent exm1637189 X 47970683 [A/G] NR_028366 SSX6 EXON Silent exm1637190 X 47970727 [T/C] NR_028366 SSX6 EXON Silent exm1637220 X 48049616 [T/C] NM_175723,NM_021015 SSX5,SSX5 EXON Missense_R140H,Missense_R181H exm1637221 X 48049617 [A/G] NM_175723,NM_021015 SSX5,SSX5 EXON Missense_R140C,Missense_R181C exm1637223 X 48049632 [T/C] NM_175723,NM_021015 SSX5,SSX5 EXON Missense_N135D,Missense_N176D exm1637224 X 48049650 [T/C] NM_175723,NM_021015 SSX5,SSX5 EXON Missense_A129T,Missense_A170T exm1637252 X 48054291 [T/C] NM_175723,NM_021015 SSX5,SSX5 Silent,Silent exm1637257 X 48054735 [A/C] NM_175723,NM_021015 SSX5,SSX5 EXON Missense_K20N,Missense_K20N exm1637260 X 48054782 [T/C] NM_175723,NM_021015 SSX5,SSX5 EXON Missense_D5N,Missense_D5N exm1637322 X 48123308 [A/C] NM_005635 SSX1 EXON Missense_P141H exm1637390 X 48209429 [T/C] NM_021014,NM_175711 SSX3,SSX3 EXON Missense_M153I,Missense_M153I exm1637455 X 48317386 [A/G] NM_033518 SLC38A5 EXON Missense_M451T exm1637458 X 48318119 [A/G] NM_033518 SLC38A5 EXON Synonymous_I404I exm1637467 X 48319438 [T/C] NM_033518 SLC38A5 EXON Missense_V296M exm1637476 X 48321284 [T/C] NM_033518 SLC38A5 EXON Synonymous_L191L exm1637487 X 48325367 [A/G] NM_033518 SLC38A5 EXON Missense_T76M exm1637501 X 48336905 [A/G] NM_177439,NM_012280,NM_177434 FTSJ1,FTSJ1,FTSJ1 EXON Missense_G64R,Missense_G64R,Missense_G64R exm1637507 X 48337447 [T/A] NM_177439,NM_012280,NM_177434 FTSJ1,FTSJ1,FTSJ1 EXON Missense_I102F,Missense_I102F,Missense_I102F exm1637523 X 48340102 [T/C] NM_177439,NM_012280,NM_177434 FTSJ1,FTSJ1,FTSJ1 EXON Synonymous_Y218Y,Synonymous_Y218Y,Synonymous_Y218Y exm1637532 X 48341118 [A/G] NM_177439,NM_012280,NM_177434 FTSJ1,FTSJ1,FTSJ1 EXON Missense_S296N,Missense_S298N,Missense_S296N exm1637537 X 48341414 [T/C] NM_177439,NM_012280,NM_177434 FTSJ1,FTSJ1,FTSJ1 EXON Silent,Silent,Silent exm2273123 X 48358485 [T/G] exm1637560 X 48372702 [T/C] NM_022825,NM_203473,NM_203475,NM_203474 PORCN,PORCN,PORCN,PORCN EXON Missense_T254M,Missense_T260M,Missense_T265M,Missense_T259M exm1637574 X 48375671 [T/C] NM_022825,NM_203473,NM_203475,NM_203474 PORCN,PORCN,PORCN,PORCN EXON Missense_T414I,Missense_T420I,Missense_T425I,Missense_T419I exm1637579 X 48378851 [A/G] NM_022825,NM_203473,NM_203475,NM_203474 PORCN,PORCN,PORCN,PORCN EXON Missense_R447H,Missense_R453H,Missense_R458H,Missense_R452H exm1637580 X 48382172 [A/G] NM_006579 EBP EXON Missense_A5T exm2212014 X 48382441 [A/C] NM_006579 EBP EXON Missense_Q94H exm1637592 X 48385545 [T/G] NM_006579 EBP EXON Missense_G114V exm1637597 X 48386663 [T/C] NM_006579 EBP EXON Missense_R171C exm1637598 X 48386664 [A/G] NM_006579 EBP EXON Missense_R171H exm1637601 X 48386802 [T/C] NM_006579 EBP EXON Missense_T217M exm1637622 X 48418084 [A/G] NM_002536 TBC1D25 EXON Missense_R263H exm1637624 X 48418126 [A/G] NM_002536 TBC1D25 EXON Missense_N277S exm1637638 X 48418659 [A/G] NM_002536 TBC1D25 EXON Missense_A455T exm1637649 X 48419200 [A/G] NM_002536 TBC1D25 EXON Missense_R635H exm1637672 X 48434928 [T/G] NM_006743 RBM3 EXON Missense_Y117D exm1637682 X 48435434 [A/G] NM_006743 RBM3 EXON Missense_R145H exm1637700 X 48457781 [A/G] NM_017883,NR_029427,NM_001166426 WDR13,WDR13,WDR13 EXON Missense_H108R,Silent,Missense_H16R exm1637713 X 48460181 [A/G] NM_017883,NR_029427,NM_001166426 WDR13,WDR13,WDR13 EXON Missense_A281T,Silent,Missense_A189T exm1637715 X 48460232 [T/G] NM_017883,NR_029427,NM_001166426 WDR13,WDR13,WDR13 EXON Missense_G298W,Silent,Missense_G206W exm1637716 X 48460314 [A/G] NM_017883,NR_029427,NM_001166426 WDR13,WDR13,WDR13 EXON Missense_H325R,Silent,Missense_H233R exm1637717 X 48460322 [A/G] NM_017883,NR_029427,NM_001166426 WDR13,WDR13,WDR13 EXON Missense_V328I,Silent,Missense_V236I exm1637738 X 48542805 [A/G] NM_000377 WAS EXON Missense_G89D exm1637741 X 48544153 [A/G] NM_000377 WAS EXON Missense_E131K exm1637748 X 48544502 [A/C] NM_000377 WAS EXON Missense_H180N exm1637763 X 48547112 [T/C] NM_000377 WAS EXON Missense_V332A exm1637770 X 48547393 [T/G] NM_000377 WAS EXON Missense_A426S exm1637776 X 48547748 [T/C] NM_000377 WAS EXON Missense_P460S exm1637785 X 48557293 [A/G] NM_003173 SUV39H1 EXON Missense_G7D exm1637801 X 48564701 [T/C] NM_003173 SUV39H1 EXON Missense_R292C exm1637815 X 48624357 [A/G] NM_001080489 GLOD5 EXON Missense_M61V exm1637817 X 48629359 [T/C] NM_001080489 GLOD5 EXON Missense_L73P exm1637819 X 48629445 [A/G] NM_001080489 GLOD5 EXON Missense_D102N exm1637822 X 48629496 [A/G] NM_001080489 GLOD5 EXON Missense_K119E exm1637826 X 48631816 [A/C] NM_001080489 GLOD5 EXON Missense_N150H exm1637830 X 48649581 [G/C] NM_002049 GATA1 EXON Missense_A22G exm1637832 X 48649674 [A/C] NM_002049 GATA1 EXON Missense_A53D exm1637833 X 48649679 [A/G] NM_002049 GATA1 EXON Missense_A55T exm1637835 X 48649712 [A/G] NM_002049 GATA1 EXON Missense_A66T exm2212083 X 48650391 [A/G] NM_002049 GATA1 EXON Missense_V121M exm1637847 X 48650601 [T/C] NM_002049 GATA1 EXON Missense_R191C exm1637857 X 48652374 [A/G] NM_002049 GATA1 EXON Missense_V349M exm1637873 X 48661402 [G/C] NM_006044 HDAC6 EXON Missense_G73A exm2212101 X 48666477 [A/G] NM_006044 HDAC6 EXON Missense_G224S exm1637911 X 48674299 [A/G] NM_006044 HDAC6 EXON Missense_V445M exm1637946 X 48681187 [A/G] NM_006044 HDAC6 EXON Missense_R832H exm2248824 X 48681486 [C/G] NM_006044 HDAC6 EXON Missense_P893A exm1637959 X 48681597 [C/G] NM_006044 HDAC6 EXON Missense_G930R exm1637975 X 48681883 [T/C] NM_006044 HDAC6 EXON Missense_S1025L exm1637989 X 48682140 [A/G] NM_006044 HDAC6 EXON Missense_G1083D exm1637993 X 48682654 [T/A] NM_006044 HDAC6 EXON Missense_I1177F exm1637996 X 48682972 [A/G] NM_006044 HDAC6 EXON Missense_N1200D exm1638006 X 48687949 [T/G] NM_181532 ERAS EXON Missense_G139V exm1638014 X 48688206 [A/C] NM_181532 ERAS EXON Missense_T225P exm1638035 X 48751210 [A/G] NM_001167947,NM_005834 TIMM17B,TIMM17B EXON Missense_R185C,Missense_R135C exm1638042 X 48752372 [A/G] NM_001167947,NM_005834 TIMM17B,TIMM17B EXON Missense_R97W,Missense_R47W exm1638079 X 48762108 [T/C] NM_005660,NM_001042498,NM_001032289 SLC35A2,SLC35A2,SLC35A2 EXON Missense_V360I,Missense_V360I,Missense_R163H exm2277432 X 48762130 [A/G] NM_005660,NM_001042498,NM_001032289 SLC35A2,SLC35A2,SLC35A2 EXON Synonymous_S352S,Synonymous_S352S,Missense_C156R exm1638107 X 48767174 [T/C] NM_005660,NM_001042498,NM_001032289 SLC35A2,SLC35A2,SLC35A2 EXON Missense_R64H,Missense_R64H,Missense_R64H exm1638125 X 48771800 [T/C] NM_006875 PIM2 EXON Missense_H215R exm1638138 X 48776074 [C/G] NM_006875 PIM2 EXON Missense_P13R exm1638161 X 48814258 [T/G] NM_017602,NM_001136157,NM_001136159,NM_001136158 OTUD5,OTUD5,OTUD5,OTUD5 EXON Missense_D192A,Missense_D192A,Silent,Missense_D192A exm1638184 X 48820063 [A/C] NM_004979 KCND1 EXON Missense_S575A exm1638188 X 48822589 [A/C] NM_004979 KCND1 EXON Missense_S531A exm1638193 X 48822634 [T/A] NM_004979 KCND1 EXON Missense_T516S exm1638199 X 48823041 [A/G] NM_004979 KCND1 EXON Missense_R471C exm1638201 X 48823056 [C/G] NM_004979 KCND1 EXON Missense_L466V exm1638206 X 48823233 [T/C] NM_004979 KCND1 EXON Missense_I435V exm1638213 X 48825622 [T/C] NM_004979 KCND1 EXON Missense_K353E exm1638225 X 48826045 [T/C] NM_004979 KCND1 EXON Missense_G212S exm1638269 X 48838048 [T/G] NM_020137,NM_207672 GRIPAP1,GRIPAP1 EXON Missense_E578A,Missense_E499A exm1638290 X 48840272 [T/C] NM_020137,NM_207672 GRIPAP1,GRIPAP1 EXON Missense_R396Q,Missense_R343Q exm1638294 X 48844586 [A/G] NM_020137,NM_207672 GRIPAP1,GRIPAP1 EXON Missense_R299W,Missense_R246W exm1638311 X 48853750 [T/C] NM_020137,NM_207672 GRIPAP1,GRIPAP1 EXON Missense_S73N,Missense_S73N exm1638355 X 48891729 [T/C] NM_006521 TFE3 EXON Missense_S308N exm1638361 X 48896697 [T/C] NM_006521 TFE3 EXON Missense_V157I exm1638388 X 48920041 [A/G] NM_001271836,NM_001271835,NM_001163322,NM_033626,NM_001163323,NM_001163321 CCDC120,CCDC120,CCDC120,CCDC120,CCDC120,CCDC120 EXON Missense_R31H,Missense_R31H,Missense_R19H,Missense_R31H,Missense_R19H,Missense_R66H exm1638424 X 48923034 [T/G] NM_001271836,NM_001271835,NM_001163322,NM_033626,NM_001163323,NM_001163321 CCDC120,CCDC120,CCDC120,CCDC120,CCDC120,CCDC120 EXON Missense_K244N,Missense_K244N,Missense_K232N,Missense_K244N,Missense_K232N,Missense_K279N exm1638437 X 48924731 [T/C] NM_001271836,NM_001271835,NM_001163322,NM_033626,NM_001163323,NM_001163321 CCDC120,CCDC120,CCDC120,CCDC120,CCDC120,CCDC120 EXON Missense_R326C,Missense_R326C,Missense_R314C,Missense_R326C,Missense_R314C,Missense_R361C exm1638444 X 48924896 [A/C] NM_001271836,NM_001271835,NM_001163322,NM_033626,NM_001163323,NM_001163321 CCDC120,CCDC120,CCDC120,CCDC120,CCDC120,CCDC120 EXON Missense_L381M,Missense_L381M,Missense_L369M,Missense_L381M,Missense_L369M,Missense_L416M exm1638455 X 48925037 [A/C] NM_001271836,NM_001271835,NM_001163322,NM_033626,NM_001163323,NM_001163321 CCDC120,CCDC120,CCDC120,CCDC120,CCDC120,CCDC120 EXON Missense_P428T,Missense_P428T,Missense_P416T,Missense_P428T,Missense_P416T,Missense_P463T exm1638462 X 48925199 [A/C] NM_001271836,NM_001271835,NM_001163322,NM_033626,NM_001163323,NM_001163321 CCDC120,CCDC120,CCDC120,CCDC120,CCDC120,CCDC120 EXON Missense_L482I,Missense_L482I,Missense_L470I,Missense_L482I,Missense_L470I,Missense_L517I exm1638465 X 48925260 [A/G] NM_001271836,NM_001271835,NM_001163322,NM_033626,NM_001163323,NM_001163321 CCDC120,CCDC120,CCDC120,CCDC120,CCDC120,CCDC120 EXON Missense_R502H,Missense_R502H,Missense_R490H,Missense_R502H,Missense_R490H,Missense_R537H exm1638484 X 48929620 [T/G] NM_007213 PRAF2 EXON Missense_I149L exm1638485 X 48929622 [T/C] NM_007213 PRAF2 EXON Missense_K148R exm1638494 X 48931481 [A/G] NM_007213 PRAF2 EXON Missense_L56F exm1638506 X 48932930 [T/C] NM_001029896,NM_007075 WDR45,WDR45 EXON Missense_V280M,Missense_V281M exm1638514 X 48933556 [A/G] NM_001029896,NM_007075 WDR45,WDR45 EXON Missense_P162L,Missense_P163L exm1638534 X 48935717 [T/C] NM_001029896,NM_007075 WDR45,WDR45 EXON Missense_R13H,Missense_R13H exm1638540 X 48970663 [A/G] NM_015698 GPKOW EXON Missense_R443W exm1638543 X 48972106 [T/C] NM_015698 GPKOW EXON Missense_R395Q exm1638550 X 48972585 [A/G] NM_015698 GPKOW EXON Missense_L336F exm1638551 X 48973390 [T/C] NM_015698 GPKOW EXON Missense_D303N exm1638554 X 48973434 [T/C] NM_015698 GPKOW EXON Missense_Y288C exm1638570 X 48978819 [T/C] NM_015698 GPKOW EXON Missense_A129T exm1638576 X 48979049 [T/C] NM_015698 GPKOW EXON Missense_R85Q exm2212327 X 48979921 [A/G] NM_015698 GPKOW EXON Missense_T51I exm1638600 X 49021050 [A/G] NM_001099682,NM_024859,NM_001099681,NM_001099680 MAGIX,MAGIX,MAGIX,MAGIX EXON Missense_S68G,Missense_S68G,Missense_S68G,Missense_S16G exm1638605 X 49021256 [A/G] NM_001099682,NM_024859,NM_001099681,NM_001099680 MAGIX,MAGIX,MAGIX,MAGIX EXON Silent,Missense_H112R,Silent,Missense_H45R exm1638608 X 49021271 [T/C] NM_001099682,NM_024859,NM_001099681,NM_001099680 MAGIX,MAGIX,MAGIX,MAGIX EXON Silent,Missense_P117L,Silent,Missense_P50L exm1638609 X 49021310 [A/G] NM_001099682,NM_024859,NM_001099681,NM_001099680 MAGIX,MAGIX,MAGIX,MAGIX EXON Silent,Missense_R130H,Silent,Missense_R63H exm1638613 X 49021382 [A/G] NM_001099682,NM_024859,NM_001099681,NM_001099680 MAGIX,MAGIX,MAGIX,MAGIX EXON Silent,Missense_R154H,Silent,Missense_R87H exm1638615 X 49021384 [A/G] NM_001099682,NM_024859,NM_001099681,NM_001099680 MAGIX,MAGIX,MAGIX,MAGIX EXON Silent,Missense_G155R,Silent,Missense_G88R exm1638629 X 49021639 [T/C] NM_001099682,NM_024859,NM_001099681,NM_001099680 MAGIX,MAGIX,MAGIX,MAGIX EXON Missense_R131W,Missense_R207W,Missense_R131W,Missense_R140W exm1638638 X 49022700 [T/C] NM_001099682,NM_024859,NM_001099681,NM_001099680 MAGIX,MAGIX,MAGIX,MAGIX EXON Missense_F242L,Missense_F323L,Missense_F247L,Missense_F251L exm1638651 X 49029754 [T/C] NM_002668 PLP2 EXON Missense_I90T exm1638655 X 49030701 [T/C] NM_002668 PLP2 EXON Missense_T122M exm1638660 X 49030770 [A/C] NM_002668 PLP2 EXON Missense_T145N exm1638667 X 49031042 [A/G] NM_002668 PLP2 EXON Missense_X153W exm1638675 X 49032141 [A/G] NM_006150 PRICKLE3 EXON Missense_P577S exm1638680 X 49032291 [T/C] NM_006150 PRICKLE3 EXON Missense_S527G exm1638685 X 49032476 [A/G] NM_006150 PRICKLE3 EXON Missense_A465V exm1638697 X 49033377 [A/G] NM_006150 PRICKLE3 EXON Missense_P377L exm1638700 X 49033480 [A/G] NM_006150 PRICKLE3 EXON Missense_R343C exm1638706 X 49034381 [A/G] NM_006150 PRICKLE3 EXON Missense_R306C exm1638711 X 49034506 [A/G] NM_006150 PRICKLE3 EXON Missense_T264M exm1638715 X 49034730 [A/G] NM_006150 PRICKLE3 EXON Missense_T220M exm1638719 X 49035640 [T/C] NM_006150 PRICKLE3 EXON Missense_R175H exm2212367 X 49035691 [T/C] NM_006150 PRICKLE3 EXON Missense_R158Q exm1638725 X 49040287 [T/C] NM_006150 PRICKLE3 EXON Missense_R71Q exm2262822 X 49041906 [A/G] NM_006150 PRICKLE3 Silent exm1638740 X 49047959 [T/C] NM_003179 SYP EXON Missense_G293S exm2268483 X 49051624 [A/G] NM_003179 SYP Silent exm1638770 X 49056641 [T/A] NM_003179 SYP EXON Missense_L2Q exm1638777 X 49061742 [T/C] NM_001256790,NM_005183,NM_001256789 CACNA1F,CACNA1F,CACNA1F EXON Missense_R1865H,Missense_R1930H,Missense_R1919H exm1638781 X 49061826 [A/G] NM_001256790,NM_005183,NM_001256789 CACNA1F,CACNA1F,CACNA1F EXON Missense_V1837A,Missense_V1902A,Missense_V1891A exm1638786 X 49063049 [A/G] NM_001256790,NM_005183,NM_001256789 CACNA1F,CACNA1F,CACNA1F EXON Missense_R1745C,Missense_R1810C,Missense_R1799C exm2212401 X 49063215 [T/C] NM_001256790,NM_005183,NM_001256789 CACNA1F,CACNA1F,CACNA1F EXON Missense_R1724H,Missense_R1789H,Missense_R1778H exm2248831 X 49063542 [A/G] NM_001256790,NM_005183,NM_001256789 CACNA1F,CACNA1F,CACNA1F EXON Missense_P1665S,Missense_P1730S,Missense_P1719S exm1638797 X 49065050 [T/C] NM_001256790,NM_005183,NM_001256789 CACNA1F,CACNA1F,CACNA1F EXON Missense_G1629E,Missense_G1694E,Missense_G1683E exm2212406 X 49065081 [A/C] NM_001256790,NM_005183,NM_001256789 CACNA1F,CACNA1F,CACNA1F EXON Missense_G1619W,Missense_G1684W,Missense_G1673W exm1638800 X 49065113 [T/C] NM_001256790,NM_005183,NM_001256789 CACNA1F,CACNA1F,CACNA1F EXON Missense_R1608Q,Missense_R1673Q,Missense_R1662Q exm1638820 X 49068373 [A/G] NM_001256790,NM_005183,NM_001256789 CACNA1F,CACNA1F,CACNA1F EXON Missense_V1308A,Missense_V1373A,Missense_V1362A exm1638835 X 49070329 [T/C] NM_001256790,NM_005183,NM_001256789 CACNA1F,CACNA1F,CACNA1F EXON Missense_A1194T,Missense_A1259T,Missense_A1248T exm1638850 X 49071851 [T/C] NM_001256790,NM_005183,NM_001256789 CACNA1F,CACNA1F,CACNA1F EXON Missense_R1076H,Missense_R1141H,Missense_R1130H exm1638866 X 49075164 [T/C] NM_001256790,NM_005183,NM_001256789 CACNA1F,CACNA1F,CACNA1F EXON Missense_G868S,Missense_G933S,Missense_G922S exm1638887 X 49079179 [T/G] NM_001256790,NM_005183,NM_001256789 CACNA1F,CACNA1F,CACNA1F EXON Missense_N681T,Missense_N746T,Missense_N735T exm1638888 X 49079273 [T/C] NM_001256790,NM_005183,NM_001256789 CACNA1F,CACNA1F,CACNA1F EXON Missense_V650M,Missense_V715M,Missense_V704M exm1638892 X 49079494 [G/C] NM_001256790,NM_005183,NM_001256789 CACNA1F,CACNA1F,CACNA1F EXON Missense_S606C,Missense_S671C,Missense_S660C exm1638904 X 49082487 [T/C] NM_001256790,NM_005183,NM_001256789 CACNA1F,CACNA1F,CACNA1F EXON Missense_R458H,Missense_R523H,Missense_R512H exm1638907 X 49082499 [T/C] NM_001256790,NM_005183,NM_001256789 CACNA1F,CACNA1F,CACNA1F EXON Missense_R454Q,Missense_R519Q,Missense_R508Q exm1638913 X 49082899 [T/C] NM_001256790,NM_005183,NM_001256789 CACNA1F,CACNA1F,CACNA1F EXON Missense_G425R,Missense_G490R,Missense_G479R exm1638920 X 49083155 [A/G] NM_001256790,NM_005183,NM_001256789 CACNA1F,CACNA1F,CACNA1F EXON Missense_L375P,Missense_L440P,Missense_L429P exm1638936 X 49084823 [A/G] NM_001256790,NM_005183,NM_001256789 CACNA1F,CACNA1F,CACNA1F EXON Missense_R237C,Missense_R302C,Missense_R302C exm1638943 X 49084885 [A/G] NM_001256790,NM_005183,NM_001256789 CACNA1F,CACNA1F,CACNA1F EXON Missense_S216L,Missense_S281L,Missense_S281L exm1638945 X 49086688 [T/C] NM_001256790,NM_005183,NM_001256789 CACNA1F,CACNA1F,CACNA1F EXON Missense_G206R,Missense_G271R,Missense_G271R exm1638947 X 49086738 [A/G] NM_001256790,NM_005183,NM_001256789 CACNA1F,CACNA1F,CACNA1F EXON Missense_I189T,Missense_I254T,Missense_I254T exm1638960 X 49088216 [A/G] NM_001256790,NM_005183,NM_001256789 CACNA1F,CACNA1F,CACNA1F EXON Silent,Missense_R67W,Missense_R67W exm1638969 X 49088374 [A/G] NM_001256790,NM_005183,NM_001256789 CACNA1F,CACNA1F,CACNA1F EXON Silent,Missense_P14L,Missense_P14L exm1638970 X 49088375 [T/G] NM_001256790,NM_005183,NM_001256789 CACNA1F,CACNA1F,CACNA1F EXON Silent,Missense_P14T,Missense_P14T exm1638980 X 49093644 [A/G] NM_014008 CCDC22 EXON Missense_A48T exm1638981 X 49093645 [T/C] NM_014008 CCDC22 EXON Missense_A48V exm1638982 X 49093653 [T/G] NM_014008 CCDC22 EXON Missense_S51A exm1638989 X 49099379 [T/C] NM_014008 CCDC22 EXON Missense_I130T exm1638991 X 49099417 [A/G] NM_014008 CCDC22 EXON Missense_V143I exm1638994 X 49099626 [A/G] NM_014008 CCDC22 EXON Missense_V171M exm1639003 X 49099873 [A/G] NM_014008 CCDC22 EXON Missense_R220Q exm1639007 X 49103192 [A/G] NM_014008 CCDC22 EXON Missense_E239K exm1639011 X 49103286 [A/G] NM_014008 CCDC22 EXON Missense_R270Q exm1639015 X 49103378 [T/C] NM_014008 CCDC22 EXON Missense_F301L exm1639016 X 49104009 [A/G] NM_014008 CCDC22 EXON Missense_R321Q exm1639019 X 49104207 [C/G] NM_014008 CCDC22 EXON Missense_T357S exm1639025 X 49104709 [T/C] NM_014008 CCDC22 EXON Missense_R384C exm1639027 X 49104722 [A/G] NM_014008 CCDC22 EXON Missense_R388H exm1639031 X 49104871 [T/G] NM_014008 CCDC22 EXON Missense_V406L exm1639032 X 49104877 [A/G] NM_014008 CCDC22 EXON Missense_E408K exm1639035 X 49104943 [A/G] NM_014008 CCDC22 EXON Missense_A430T exm1639044 X 49105673 [T/C] NM_014008 CCDC22 EXON Missense_S529P exm1639045 X 49105674 [A/C] NM_014008 CCDC22 EXON Missense_S529Y exm1639049 X 49105970 [A/G] NM_014008 CCDC22 EXON Missense_D546N exm1639053 X 49106160 [T/C] NM_014008 CCDC22 EXON Missense_R582W exm1639059 X 49106657 [T/C] NM_014008 CCDC22 EXON Missense_R607W exm1639084 X 49113221 [C/G] NM_001114377,NM_014009 FOXP3,FOXP3 EXON Missense_E177Q,Missense_E212Q exm1639086 X 49113230 [T/C] NM_001114377,NM_014009 FOXP3,FOXP3 EXON Missense_E174K,Missense_E209K exm1639089 X 49113312 [A/G] NM_001114377,NM_014009 FOXP3,FOXP3 EXON Synonymous_S146S,Synonymous_S181S exm1639095 X 49113998 [A/G] NM_001114377,NM_014009 FOXP3,FOXP3 EXON Missense_R79W,Missense_R114W exm1639101 X 49114787 [G/C] NM_001114377,NM_014009 FOXP3,FOXP3 EXON Missense_S59C,Missense_S59C exm2248835 X 49114808 [A/C] NM_001114377,NM_014009 FOXP3,FOXP3 EXON Missense_G52V,Missense_G52V exm1639124 X 49127011 [A/G] NM_033215,NM_001184745 PPP1R3F,PPP1R3F EXON Missense_G227S,Silent exm1639131 X 49127126 [A/G] NM_033215,NM_001184745 PPP1R3F,PPP1R3F EXON Missense_Y265C,Silent exm2212507 X 49127238 [C/G] NM_033215,NM_001184745 PPP1R3F,PPP1R3F EXON Missense_Q302H,Silent exm1639137 X 49137916 [T/C] NM_033215,NM_001184745 PPP1R3F,PPP1R3F EXON Missense_F351S,Missense_F6S exm1639143 X 49142537 [T/C] NM_033215,NM_001184745 PPP1R3F,PPP1R3F EXON Missense_S462L,Missense_S116L exm1639151 X 49142717 [T/C] NM_033215,NM_001184745 PPP1R3F,PPP1R3F EXON Missense_P522L,Missense_P176L exm1639155 X 49142827 [C/G] NM_033215,NM_001184745 PPP1R3F,PPP1R3F EXON Missense_R559G,Missense_R213G exm1639171 X 49143289 [A/G] NM_033215,NM_001184745 PPP1R3F,PPP1R3F EXON Missense_E713K,Missense_E367K exm1639181 X 49143521 [T/C] NM_033215,NM_001184745 PPP1R3F,PPP1R3F EXON Missense_A790V,Missense_A444V exm1639282 X 49454026 [T/C] NM_003785 PAGE1 EXON Missense_E138G exm1639285 X 49454056 [A/G] NM_003785 PAGE1 EXON Missense_L128P exm1639289 X 49454089 [T/C] NM_003785 PAGE1 EXON Missense_R117H exm1639294 X 49454118 [T/A] NM_003785 PAGE1 EXON Missense_E107D exm1639303 X 49455976 [T/C] NM_003785 PAGE1 EXON Synonymous_G56G exm1639307 X 49459346 [A/G] NM_003785 PAGE1 EXON Missense_R10W exm1639308 X 49459381 [A/G] NM_003785 PAGE1 EXON Silent exm1639310 X 49595078 [A/G] NM_007003 PAGE4 EXON Missense_Q16R exm1639352 X 49807003 [A/G] NM_001127898,NM_001272102,NM_001127899 CLCN5,CLCN5,CLCN5 EXON Missense_D32G,Missense_D32G,Missense_D32G exm1639358 X 49834668 [T/C] NM_001127898,NM_001127899,NM_000084,NR_073607 CLCN5,CLCN5,CLCN5,CLCN5 EXON Missense_R100W,Missense_R100W,Missense_R30W,Silent exm1639366 X 49840588 [A/G] NM_001127898,NM_001127899,NM_000084,NR_073607 CLCN5,CLCN5,CLCN5,CLCN5 EXON Missense_K185R,Missense_K185R,Missense_K115R,Silent exm1639371 X 49845283 [A/G] NM_001127898,NM_001127899,NM_000084,NR_073607 CLCN5,CLCN5,CLCN5,CLCN5 EXON Missense_M212I,Missense_M212I,Missense_M142I,Silent exm1639372 X 49845320 [A/G] NM_001127898,NM_001127899,NM_000084,NR_073607 CLCN5,CLCN5,CLCN5,CLCN5 EXON Missense_V225I,Missense_V225I,Missense_V155I,Silent exm1639378 X 49846497 [A/G] NM_001127898,NM_001127899,NM_000084,NR_073607 CLCN5,CLCN5,CLCN5,CLCN5 EXON Missense_R309H,Missense_R309H,Missense_R239H,Silent exm1639387 X 49851214 [A/G] NM_001127898,NM_001127899,NM_000084,NR_073607 CLCN5,CLCN5,CLCN5,CLCN5 EXON Missense_R415Q,Missense_R415Q,Missense_R345Q,Silent exm1639397 X 49853432 [T/G] NM_001127898,NM_001127899,NM_000084,NR_073607 CLCN5,CLCN5,CLCN5,CLCN5 EXON Missense_Q545H,Missense_Q545H,Missense_Q475H,Silent exm1639399 X 49853460 [A/G] NM_001127898,NM_001127899,NM_000084,NR_073607 CLCN5,CLCN5,CLCN5,CLCN5 EXON Missense_V555I,Missense_V555I,Missense_V485I,Silent exm1639411 X 49855363 [G/C] NM_001127898,NM_001127899,NM_000084,NR_073607 CLCN5,CLCN5,CLCN5,CLCN5 EXON Missense_T727S,Missense_T727S,Missense_T657S,Silent exm1639412 X 49855384 [A/C] NM_001127898,NM_001127899,NM_000084,NR_073607 CLCN5,CLCN5,CLCN5,CLCN5 EXON Missense_E734A,Missense_E734A,Missense_E664A,Silent exm1639413 X 49855488 [A/G] NM_001127898,NM_001127899,NM_000084,NR_073607 CLCN5,CLCN5,CLCN5,CLCN5 EXON Missense_V769I,Missense_V769I,Missense_V699I,Silent exm2264755 X 49919532 [A/C] exm1639428 X 49955614 [T/C] NM_003886,NM_139289 AKAP4,AKAP4 EXON Missense_A852T,Missense_A843T exm1639431 X 49955673 [T/C] NM_003886,NM_139289 AKAP4,AKAP4 EXON Missense_R832Q,Missense_R823Q exm1639434 X 49956987 [A/G] NM_003886,NM_139289 AKAP4,AKAP4 EXON Missense_F793L,Missense_F784L exm1639439 X 49957208 [T/G] NM_003886,NM_139289 AKAP4,AKAP4 EXON Missense_A719E,Missense_A710E exm1639443 X 49957346 [G/C] NM_003886,NM_139289 AKAP4,AKAP4 EXON Missense_A673G,Missense_A664G exm1639452 X 49957706 [T/C] NM_003886,NM_139289 AKAP4,AKAP4 EXON Missense_Q553R,Missense_Q544R exm1639453 X 49957715 [T/G] NM_003886,NM_139289 AKAP4,AKAP4 EXON Missense_K550T,Missense_K541T exm1639457 X 49957855 [G/C] NM_003886,NM_139289 AKAP4,AKAP4 EXON Missense_E503D,Missense_E494D exm1639461 X 49958078 [T/C] NM_003886,NM_139289 AKAP4,AKAP4 EXON Missense_R429H,Missense_R420H exm1639469 X 49958477 [T/C] NM_003886,NM_139289 AKAP4,AKAP4 EXON Missense_G296D,Missense_G287D exm1639471 X 49958555 [A/G] NM_003886,NM_139289 AKAP4,AKAP4 EXON Missense_I270T,Missense_I261T exm1639472 X 49958564 [A/G] NM_003886,NM_139289 AKAP4,AKAP4 EXON Missense_A267V,Missense_A258V exm1639473 X 49958666 [T/C] NM_003886,NM_139289 AKAP4,AKAP4 EXON Missense_H233R,Missense_H224R exm1639477 X 49958883 [T/C] NM_003886,NM_139289 AKAP4,AKAP4 EXON Missense_D161N,Missense_D152N exm1639481 X 49959084 [G/C] NM_003886,NM_139289 AKAP4,AKAP4 EXON Missense_E94Q,Missense_E85Q exm1639485 X 49961628 [T/A] NM_003886,NM_139289 AKAP4,AKAP4 EXON Missense_S64C,Missense_S55C exm1639505 X 50037948 [T/C] NM_033670,NM_033031 CCNB3,CCNB3 EXON Silent,Missense_T97I exm1639507 X 50051569 [A/C] NM_033670,NM_033031 CCNB3,CCNB3 EXON Silent,Missense_P134T exm1639509 X 50051689 [A/G] NM_033670,NM_033031 CCNB3,CCNB3 EXON Silent,Missense_K174E exm1639511 X 50051731 [A/T] NM_033670,NM_033031 CCNB3,CCNB3 EXON Silent,Missense_S188T exm1639534 X 50052590 [T/C] NM_033670,NM_033031 CCNB3,CCNB3 EXON Silent,Missense_T474I exm1639535 X 50052737 [T/C] NM_033670,NM_033031 CCNB3,CCNB3 EXON Silent,Missense_P523L exm1639537 X 50052845 [A/G] NM_033670,NM_033031 CCNB3,CCNB3 EXON Silent,Missense_D559G exm1639558 X 50053706 [A/G] NM_033670,NM_033031 CCNB3,CCNB3 EXON Silent,Missense_K846R exm1639559 X 50053738 [A/C] NM_033670,NM_033031 CCNB3,CCNB3 EXON Silent,Missense_K857Q exm2248845 X 50054170 [C/G] NM_033670,NM_033031 CCNB3,CCNB3 EXON Silent,Missense_G1001R exm1639578 X 50055568 [A/G] NM_033670,NM_033031 CCNB3,CCNB3 EXON Silent,Missense_S1120N exm1639583 X 50085212 [T/G] NM_033670,NM_033031 CCNB3,CCNB3 EXON Missense_E72D,Missense_E1176D exm1639588 X 50089667 [A/G] NM_033670,NM_033031 CCNB3,CCNB3 EXON Missense_R120H,Missense_R1224H exm1639594 X 50089805 [A/G] NM_033670,NM_033031 CCNB3,CCNB3 EXON Missense_R166K,Missense_R1270K exm1639596 X 50090662 [A/G] NM_033670,NM_033031 CCNB3,CCNB3 EXON Missense_R179H,Missense_R1283H exm2268584 X 50108644 [A/G] exm1639606 X 50113468 [T/C] NM_001013742 DGKK EXON Missense_R1231K exm1639615 X 50118036 [A/G] NM_001013742 DGKK EXON Missense_P1145L exm1639619 X 50119074 [A/G] NM_001013742 DGKK EXON Missense_T1121M exm1639620 X 50119085 [T/C] NM_001013742 DGKK EXON Missense_M1117I exm1639623 X 50119823 [T/C] NM_001013742 DGKK EXON Missense_A1069T exm1639627 X 50121148 [C/G] NM_001013742 DGKK EXON Missense_G1020A exm1639642 X 50125600 [A/G] NM_001013742 DGKK EXON Missense_R851C exm1639662 X 50134444 [T/A] NM_001013742 DGKK EXON Missense_I612N exm1639670 X 50144082 [A/C] NM_001013742 DGKK EXON Missense_R455L exm-rs1934179 X 50182184 [A/G] NM_001013742 DGKK Silent exm1639690 X 50213149 [A/G] NM_001013742 DGKK EXON Missense_P177S exm1639725 X 50341377 [A/C] NM_020717,NR_027121 SHROOM4,SHROOM4 EXON Missense_L1367F,Silent exm1639727 X 50341412 [T/C] NM_020717,NR_027121 SHROOM4,SHROOM4 EXON Missense_V1356I,Silent exm1639733 X 50341534 [A/G] NM_020717,NR_027121 SHROOM4,SHROOM4 EXON Missense_I1315T,Silent exm1639739 X 50350408 [A/G] NM_020717,NR_027121 SHROOM4,SHROOM4 EXON Missense_S1245L,Silent exm1639742 X 50350531 [T/C] NM_020717,NR_027121 SHROOM4,SHROOM4 EXON Missense_E1204G,Silent exm2212711 X 50350796 [A/G] NM_020717,NR_027121 SHROOM4,SHROOM4 EXON Missense_R1116C,Silent exm1639770 X 50350850 [A/C] NM_020717,NR_027121 SHROOM4,SHROOM4 EXON Missense_A1098S,Silent exm1639774 X 50350995 [T/C] NM_020717,NR_027121 SHROOM4,SHROOM4 EXON Missense_M1049I,Silent exm1639775 X 50351038 [T/G] NM_020717,NR_027121 SHROOM4,SHROOM4 EXON Missense_E1035A,Silent exm1639784 X 50376199 [T/G] NM_020717,NR_027121 SHROOM4,SHROOM4 EXON Missense_K958N,Silent exm1639785 X 50376206 [C/G] NM_020717,NR_027121 SHROOM4,SHROOM4 EXON Missense_T956S,Silent exm1639787 X 50376252 [A/G] NM_020717,NR_027121 SHROOM4,SHROOM4 EXON Missense_P941S,Silent exm1639793 X 50376576 [T/C] NM_020717,NR_027121 SHROOM4,SHROOM4 EXON Missense_A833T,Silent exm1639797 X 50376620 [T/C] NM_020717,NR_027121 SHROOM4,SHROOM4 EXON Missense_C818Y,Silent exm1639803 X 50376701 [T/C] NM_020717,NR_027121 SHROOM4,SHROOM4 EXON Missense_G791D,Silent exm1639804 X 50376881 [T/C] NM_020717,NR_027121 SHROOM4,SHROOM4 EXON Missense_E731G,Silent exm1639806 X 50376908 [T/C] NM_020717,NR_027121 SHROOM4,SHROOM4 EXON Missense_R722H,Silent exm1639814 X 50377194 [A/G] NM_020717,NR_027121 SHROOM4,SHROOM4 EXON Missense_P627S,Silent exm1639817 X 50377398 [T/C] NM_020717,NR_027121 SHROOM4,SHROOM4 EXON Missense_E559K,Silent exm1639819 X 50377446 [T/A] NM_020717,NR_027121 SHROOM4,SHROOM4 EXON Missense_T543S,Silent exm1639827 X 50377686 [T/G] NM_020717,NR_027121 SHROOM4,SHROOM4 EXON Missense_P463T,Silent exm1639830 X 50377785 [A/C] NM_020717,NR_027121 SHROOM4,SHROOM4 EXON Missense_G430C,Silent exm1639835 X 50378005 [A/C] NM_020717,NR_027121 SHROOM4,SHROOM4 EXON Missense_E356D,Silent exm1639836 X 50378020 [T/G] NM_020717,NR_027121 SHROOM4,SHROOM4 EXON Missense_S351R,Silent exm1639838 X 50378138 [T/C] NM_020717,NR_027121 SHROOM4,SHROOM4 EXON Missense_S312N,Silent exm1639842 X 50378234 [T/C] NM_020717,NR_027121 SHROOM4,SHROOM4 EXON Missense_R280Q,Silent exm1639848 X 50378384 [T/C] NM_020717,NR_027121 SHROOM4,SHROOM4 EXON Missense_R230Q,Silent exm1639858 X 50378634 [A/G] NM_020717,NR_027121 SHROOM4,SHROOM4 EXON Missense_H147Y,Silent exm1639860 X 50378637 [A/G] NM_020717,NR_027121 SHROOM4,SHROOM4 EXON Missense_R146W,Silent exm1639870 X 50381301 [T/C] NM_020717,NR_027121 SHROOM4,SHROOM4 EXON Missense_A93T,Silent exm2268585 X 50488154 [A/G] NM_020717,NR_027121 SHROOM4,SHROOM4 Silent,Silent exm1639888 X 50653796 [A/C] NM_005448 BMP15 EXON Missense_S5R exm1639891 X 50653964 [T/C] NM_005448 BMP15 EXON Missense_R61W exm1639893 X 50653985 [T/C] NM_005448 BMP15 EXON Missense_R68W exm1639899 X 50654091 [A/G] NM_005448 BMP15 EXON Missense_N103S exm1639904 X 50658871 [T/C] NM_005448 BMP15 EXON Missense_L148P exm1639907 X 50659009 [T/C] NM_005448 BMP15 EXON Missense_F194S exm2212739 X 50659026 [T/C] NM_005448 BMP15 EXON Missense_H200Y exm1639911 X 50659159 [A/G] NM_005448 BMP15 EXON Missense_R244Q exm1639919 X 50659290 [A/G] NM_005448 BMP15 EXON Missense_N288D exm1639921 X 50659437 [A/C] NM_005448 BMP15 EXON Missense_H337N exm1639943 X 51076079 [G/C] NM_153183 NUDT10 EXON Missense_D88H exm-rs1327301 X 51210057 [T/C] exm-rs5945572 X 51229683 [A/G] exm-rs5945619 X 51241672 [T/C] exm1640046 X 51486790 [T/C] NM_018094 GSPT2 EXON Missense_P23L exm1640063 X 51487237 [G/C] NM_018094 GSPT2 EXON Missense_P172R exm1640064 X 51487267 [A/G] NM_018094 GSPT2 EXON Missense_E182G exm1640090 X 51637846 [A/G] NM_001005332,NM_001005333,NM_006986 MAGED1,MAGED1,MAGED1 EXON Silent,Missense_V57I,Silent exm1640097 X 51638410 [A/G] NM_001005332,NM_001005333,NM_006986 MAGED1,MAGED1,MAGED1 EXON Missense_V103M,Missense_V159M,Missense_V103M exm1640099 X 51638449 [A/C] NM_001005332,NM_001005333,NM_006986 MAGED1,MAGED1,MAGED1 EXON Missense_N116H,Missense_N172H,Missense_N116H exm1640109 X 51639664 [T/C] NM_001005332,NM_001005333,NM_006986 MAGED1,MAGED1,MAGED1 EXON Missense_P305S,Missense_P361S,Missense_P305S exm1640113 X 51639830 [T/C] NM_001005332,NM_001005333,NM_006986 MAGED1,MAGED1,MAGED1 EXON Missense_I360T,Missense_I416T,Missense_I360T exm1640116 X 51639964 [A/C] NM_001005332,NM_001005333,NM_006986 MAGED1,MAGED1,MAGED1 EXON Missense_P405T,Missense_P461T,Missense_P405T exm1640120 X 51640042 [A/G] NM_001005332,NM_001005333,NM_006986 MAGED1,MAGED1,MAGED1 EXON Missense_A431T,Missense_A487T,Missense_A431T exm1640123 X 51640144 [T/C] NM_001005332,NM_001005333,NM_006986 MAGED1,MAGED1,MAGED1 EXON Missense_P465S,Missense_P521S,Missense_P465S exm2268586 X 51674293 [A/G] exm2263093 X 51787550 [T/C] exm2273256 X 51999970 [T/C] exm1640231 X 52677343 [C/G] NM_173358 SSX7 EXON Missense_P145R exm1640239 X 52679403 [T/C] NM_173358 SSX7 EXON Synonymous_K110K exm1640245 X 52681344 [C/G] NM_173358 SSX7 EXON Missense_Q80E exm2248853 X 53105955 [A/G] NM_018969 GPR173 EXON Missense_R51H exm2248854 X 53106023 [A/G] NM_018969 GPR173 EXON Missense_V74I exm1640352 X 53106056 [T/C] NM_018969 GPR173 EXON Missense_H85Y exm1640364 X 53106461 [A/G] NM_018969 GPR173 EXON Missense_V220M exm1640382 X 53112054 [T/G] NM_022117 TSPYL2 EXON Missense_G125V exm1640385 X 53112146 [T/C] NM_022117 TSPYL2 EXON Missense_P156S exm1640423 X 53114988 [A/G] NM_022117 TSPYL2 EXON Missense_I472V exm1640456 X 53115468 [A/G] NM_022117 TSPYL2 EXON Missense_V632M exm1640460 X 53116958 [A/G] NM_022117 TSPYL2 EXON Missense_G640D exm1640462 X 53116982 [A/G] NM_022117 TSPYL2 EXON Missense_Y648C exm1640463 X 53117029 [A/G] NM_022117 TSPYL2 EXON Missense_E664K exm2262827 X 53213697 [T/C] exm1640473 X 53222195 [T/C] NM_001146702,NM_004187 KDM5C,KDM5C EXON Silent,Missense_R1546Q exm1640475 X 53222235 [T/G] NM_001146702,NM_004187 KDM5C,KDM5C EXON Silent,Missense_T1533P exm1640480 X 53222633 [A/G] NM_001146702,NM_004187 KDM5C,KDM5C EXON Silent,Missense_R1435C exm1640489 X 53223691 [A/G] NM_001146702,NM_004187 KDM5C,KDM5C EXON Missense_P1156L,Missense_P1223L exm1640512 X 53226075 [A/C] NM_001146702,NM_004187 KDM5C,KDM5C EXON Missense_V858G,Missense_V925G exm1640556 X 53246446 [T/C] NM_001146702,NM_004187 KDM5C,KDM5C EXON Missense_R112H,Missense_R179H exm1640569 X 53263460 [T/C] NM_015075,NM_001111125 IQSEC2,IQSEC2 EXON Silent,Missense_A1470T exm1640625 X 53280166 [C/G] NM_015075,NM_001111125 IQSEC2,IQSEC2 EXON Missense_R326P,Missense_R531P exm1640628 X 53280260 [C/G] NM_015075,NM_001111125 IQSEC2,IQSEC2 EXON Missense_E295Q,Missense_E500Q exm1640715 X 53442001 [T/C] NM_006306 SMC1A EXON Missense_N76S exm1640745 X 53457464 [T/C] NM_001267053,NM_001031745 RIBC1,RIBC1 EXON Missense_H147Y,Missense_H262Y exm1640749 X 53457578 [T/C] NM_001267053,NM_001031745 RIBC1,RIBC1 EXON Missense_R185C,Missense_R300C exm1640767 X 53459269 [T/C] NM_004493,NM_001037811 HSD17B10,HSD17B10 EXON Missense_A95T,Missense_A95T exm1640811 X 53569407 [T/C] NM_031407 HUWE1 EXON Missense_I3825V exm1640837 X 53574760 [G/C] NM_031407 HUWE1 EXON Missense_P3504A exm1640864 X 53576158 [T/C] NM_031407 HUWE1 EXON Missense_N3266S exm1640871 X 53577639 [G/C] NM_031407 HUWE1 EXON Missense_S3159T exm1640890 X 53579662 [A/G] NM_031407 HUWE1 EXON Missense_A2896V exm1640898 X 53581707 [A/C] NM_031407 HUWE1 EXON Missense_G2794V exm2268487 X 53599113 [A/G] NM_031407 HUWE1 Silent exm1640933 X 53600918 [A/G] NM_031407 HUWE1 EXON Missense_T2035I exm1640937 X 53602646 [T/C] NM_031407 HUWE1 EXON Missense_R1996H exm1640980 X 53616739 [A/G] NM_031407 HUWE1 EXON Missense_A1410V exm1640981 X 53616745 [T/C] NM_031407 HUWE1 EXON Missense_R1408Q exm1640997 X 53627159 [T/C] NM_031407 HUWE1 EXON Missense_T1028A exm1641011 X 53634593 [T/A] NM_031407 HUWE1 EXON Missense_Q796L exm1641048 X 53654402 [T/C] NM_031407 HUWE1 EXON Missense_N483S exm1641063 X 53657899 [T/C] NM_031407 HUWE1 EXON Missense_I284V exm2262829 X 53770481 [A/G] exm2273128 X 53889717 [T/G] exm1641087 X 53966879 [T/C] NM_001184897,NM_015107,NM_001184896 PHF8,PHF8,PHF8 EXON Missense_R806H,Missense_R907H,Missense_R943H exm-rs7065696 X 53974054 [C/G] NM_001184897,NM_015107,NM_001184896,NM_001184898 PHF8,PHF8,PHF8,PHF8 Silent,Silent,Silent,Silent exm1641100 X 54011659 [T/C] NM_001184897,NM_015107,NM_001184896,NM_001184898 PHF8,PHF8,PHF8,PHF8 EXON Missense_E610K,Missense_E711K,Missense_E747K,Missense_E694K exm1641117 X 54020276 [G/C] NM_001184897,NM_015107,NM_001184896,NM_001184898 PHF8,PHF8,PHF8,PHF8 EXON Silent,Missense_P462A,Missense_P498A,Missense_P462A exm1641140 X 54048766 [T/A] NM_001184897,NM_015107,NM_001184896,NM_001184898 PHF8,PHF8,PHF8,PHF8 EXON Missense_D73E,Missense_D73E,Missense_D109E,Missense_D73E exm2248864 X 54106681 [T/C] NM_017848 FAM120C EXON Missense_K1007R exm1641156 X 54112185 [T/C] NM_017848 FAM120C EXON Missense_M934I exm1641157 X 54112196 [T/C] NM_017848 FAM120C EXON Missense_M931V exm1641171 X 54160429 [T/C] NM_017848 FAM120C EXON Missense_R556H exm1641173 X 54161417 [T/C] NM_017848 FAM120C EXON Missense_Q488R exm1641202 X 54209387 [A/G] NM_017848,NM_198456 FAM120C,FAM120C EXON Missense_I82T,Missense_I82T exm1641225 X 54225079 [A/G] NM_020922,NM_001002838 WNK3,WNK3 EXON Missense_P1694L,Missense_P1637L exm1641236 X 54263498 [T/C] NM_020922,NM_001002838 WNK3,WNK3 EXON Missense_E1501K,Missense_E1454K exm1641276 X 54275944 [A/G] NM_020922,NM_001002838 WNK3,WNK3 EXON Missense_I946T,Missense_I946T exm2213182 X 54275950 [A/C] NM_020922,NM_001002838 WNK3,WNK3 EXON Missense_G944V,Missense_G944V exm1641285 X 54276453 [A/G] NM_020922,NM_001002838 WNK3,WNK3 EXON Missense_A896V,Missense_A896V exm1641294 X 54277991 [T/C] NM_020922,NM_001002838 WNK3,WNK3 EXON Missense_I833V,Missense_I833V exm1641295 X 54278075 [G/C] NM_020922,NM_001002838 WNK3,WNK3 EXON Missense_E805Q,Missense_E805Q exm1641306 X 54282311 [T/A] NM_020922,NM_001002838 WNK3,WNK3 EXON Missense_Q704H,Missense_Q704H exm1641307 X 54285734 [A/G] NM_020922,NM_001002838 WNK3,WNK3 EXON Missense_A692V,Missense_A692V exm1641308 X 54285750 [A/C] NM_020922,NM_001002838 WNK3,WNK3 EXON Missense_A687S,Missense_A687S exm1641319 X 54321158 [A/C] NM_020922,NM_001002838 WNK3,WNK3 EXON Missense_R507S,Missense_R507S exm1641336 X 54359884 [A/C] NM_020922,NM_001002838 WNK3,WNK3 EXON Missense_S75A,Missense_S75A exm1641361 X 54472607 [A/G] NM_004463 FGD1 EXON Missense_P941S exm1641362 X 54472612 [T/G] NM_004463 FGD1 EXON Missense_E939A exm1641415 X 54496778 [T/C] NM_004463 FGD1 EXON Missense_E258K exm1641418 X 54496874 [T/C] NM_004463 FGD1 EXON Missense_A226T exm1641423 X 54497053 [A/G] NM_004463 FGD1 EXON Missense_S208P exm1641433 X 54497788 [T/C] NM_004463 FGD1 EXON Missense_R147H exm1641435 X 54497833 [T/C] NM_004463 FGD1 EXON Missense_R132Q exm1641451 X 54565494 [A/G] NM_019067,NM_001184819 GNL3L,GNL3L EXON Missense_G14D,Missense_G14D exm1641454 X 54566608 [T/C] NM_019067,NM_001184819 GNL3L,GNL3L EXON Missense_P41L,Missense_P41L exm1641455 X 54566634 [A/G] NM_019067,NM_001184819 GNL3L,GNL3L EXON Missense_N50D,Missense_N50D exm1641457 X 54566665 [A/T] NM_019067,NM_001184819 GNL3L,GNL3L EXON Missense_K60M,Missense_K60M exm1641461 X 54567799 [T/C] NM_019067,NM_001184819 GNL3L,GNL3L EXON Missense_R95C,Missense_R95C exm1641472 X 54574666 [A/G] NM_019067,NM_001184819 GNL3L,GNL3L EXON Missense_R212H,Missense_R212H exm1641499 X 54578377 [T/C] NM_019067,NM_001184819 GNL3L,GNL3L EXON Missense_A384V,Missense_A384V exm1641500 X 54578725 [T/C] NM_019067,NM_001184819 GNL3L,GNL3L EXON Synonymous_S394S,Synonymous_S394S exm1641504 X 54578798 [A/G] NM_019067,NM_001184819 GNL3L,GNL3L EXON Missense_K419E,Missense_K419E exm1641517 X 54584923 [T/G] NM_019067,NM_001184819 GNL3L,GNL3L EXON Missense_A501S,Missense_A501S exm1641529 X 54776381 [A/G] NM_198510 ITIH6 EXON Missense_R1297C exm1641536 X 54776479 [T/C] NM_198510 ITIH6 EXON Missense_R1264K exm1641537 X 54776483 [A/G] NM_198510 ITIH6 EXON Nonsense_R1263X exm1641543 X 54777460 [T/C] NM_198510 ITIH6 EXON Missense_S1236G exm1641545 X 54777550 [A/C] NM_198510 ITIH6 EXON Nonsense_E1206X exm1641549 X 54777657 [C/G] NM_198510 ITIH6 EXON Missense_G1170A exm1641553 X 54777748 [T/C] NM_198510 ITIH6 EXON Missense_T1140A exm1641562 X 54780361 [A/G] NM_198510 ITIH6 Silent exm1641563 X 54781530 [G/C] NM_198510 ITIH6 EXON Missense_W1041S exm1641565 X 54783431 [A/C] NM_198510 ITIH6 EXON Missense_A1026S exm1641566 X 54783434 [T/G] NM_198510 ITIH6 EXON Missense_P1025T exm1641579 X 54783664 [A/G] NM_198510 ITIH6 EXON Missense_P948L exm1641580 X 54783740 [A/G] NM_198510 ITIH6 EXON Missense_L923F exm1641584 X 54783785 [T/G] NM_198510 ITIH6 EXON Missense_I908L exm1641585 X 54783896 [A/G] NM_198510 ITIH6 EXON Missense_L871F exm1641588 X 54783952 [A/G] NM_198510 ITIH6 EXON Missense_I852T exm2213293 X 54783969 [A/C] NM_198510 ITIH6 EXON Missense_L846F exm1641594 X 54784246 [A/G] NM_198510 ITIH6 EXON Missense_T754M exm1641603 X 54784433 [T/C] NM_198510 ITIH6 EXON Missense_E692K exm1641605 X 54784477 [A/G] NM_198510 ITIH6 EXON Missense_S677F exm1641616 X 54784768 [T/C] NM_198510 ITIH6 EXON Missense_R580H exm2277436 X 54784822 [T/C] NM_198510 ITIH6 EXON Missense_R562H exm1641618 X 54784826 [A/G] NM_198510 ITIH6 EXON Missense_R561C exm1641619 X 54784856 [A/C] NM_198510 ITIH6 EXON Nonsense_E551X exm1641630 X 54785116 [A/C] NM_198510 ITIH6 EXON Missense_G464V exm1641635 X 54785170 [G/C] NM_198510 ITIH6 EXON Missense_R446P exm1641636 X 54785171 [A/G] NM_198510 ITIH6 EXON Missense_R446W exm2213304 X 54785188 [A/C] NM_198510 ITIH6 EXON Missense_R440L exm1641639 X 54785287 [A/G] NM_198510 ITIH6 EXON Missense_P407L exm1641646 X 54785344 [T/C] NM_198510 ITIH6 EXON Missense_R388K exm1641648 X 54785348 [G/C] NM_198510 ITIH6 EXON Missense_G387R exm1641652 X 54786195 [T/C] NM_198510 ITIH6 EXON Missense_D357N exm1641658 X 54800542 [T/C] NM_198510 ITIH6 EXON Missense_S292N exm1641681 X 54817426 [A/G] NM_198510 ITIH6 EXON Missense_R154W exm1641690 X 54823487 [A/G] NM_198510 ITIH6 EXON Missense_R49C exm1641692 X 54823504 [T/C] NM_198510 ITIH6 EXON Missense_R43H exm1641710 X 54836237 [T/C] NM_177433,NM_014599,NM_201222 MAGED2,MAGED2,MAGED2 EXON Missense_P43L,Missense_P43L,Missense_P43L exm1641712 X 54836239 [A/G] NM_177433,NM_014599,NM_201222 MAGED2,MAGED2,MAGED2 EXON Missense_K44E,Missense_K44E,Missense_K44E exm1641726 X 54837277 [C/G] NM_177433,NM_014599,NM_201222 MAGED2,MAGED2,MAGED2 EXON Missense_E187D,Missense_E187D,Missense_E187D exm1641734 X 54837723 [T/C] NM_177433,NM_014599,NM_201222 MAGED2,MAGED2,MAGED2 EXON Missense_T296M,Missense_T296M,Missense_T296M exm1641777 X 54841952 [C/G] NM_177433,NM_014599,NM_201222 MAGED2,MAGED2,MAGED2 EXON Missense_T553S,Missense_T553S,Missense_T553S exm1641784 X 54949027 [T/C] NM_177556,NM_001039705,NM_177557,NM_001271183,NR_073148,NR_073149,NM_016157,NM_001271184 TRO,TRO,TRO,TRO,TRO,TRO,TRO,TRO EXON Missense_P21L,Missense_P21L,Silent,Silent,Silent,Silent,Missense_P21L,Silent exm1641790 X 54949158 [T/C] NM_177556,NM_001039705,NM_177557,NM_001271183,NR_073148,NR_073149,NM_016157,NM_001271184 TRO,TRO,TRO,TRO,TRO,TRO,TRO,TRO EXON Missense_R65W,Missense_R65W,Silent,Silent,Silent,Silent,Missense_R65W,Silent exm1641802 X 54949633 [T/C] NM_177556,NM_001039705,NM_177557,NM_001271183,NR_073148,NR_073149,NM_016157,NM_001271184 TRO,TRO,TRO,TRO,TRO,TRO,TRO,TRO EXON Missense_S223L,Missense_S223L,Silent,Silent,Silent,Silent,Missense_S223L,Silent exm1641819 X 54950960 [T/C] NM_177556,NM_001039705,NM_177557,NM_001271183,NR_073148,NR_073149,NM_016157,NM_001271184 TRO,TRO,TRO,TRO,TRO,TRO,TRO,TRO EXON Missense_P438L,Missense_P438L,Missense_P41L,Silent,Silent,Silent,Missense_P438L,Missense_P41L exm1641823 X 54951464 [T/C] NM_177556,NM_001039705,NM_177557,NM_001271183,NR_073148,NR_073149,NM_016157,NM_001271184 TRO,TRO,TRO,TRO,TRO,TRO,TRO,TRO EXON Missense_P483L,Missense_P483L,Missense_P86L,Missense_P14L,Silent,Silent,Missense_P483L,Missense_P86L exm1641827 X 54952116 [T/C] NM_177556,NM_001039705,NM_177557,NM_001271183,NR_073148,NR_073149,NM_016157,NM_001271184 TRO,TRO,TRO,TRO,TRO,TRO,TRO,TRO EXON Missense_T526M,Missense_T526M,Missense_T129M,Missense_T57M,Silent,Silent,Missense_T526M,Missense_T129M exm1641852 X 54955553 [A/C] NM_177556,NM_001039705,NM_177557,NM_001271183,NR_073148,NR_073149,NM_016157,NM_001271184 TRO,TRO,TRO,TRO,TRO,TRO,TRO,TRO EXON Silent,Missense_H799P,Silent,Missense_H330P,Silent,Silent,Silent,Missense_H402P exm1641854 X 54955610 [A/G] NM_177556,NM_001039705,NM_177557,NM_001271183,NR_073148,NR_073149,NM_016157,NM_001271184 TRO,TRO,TRO,TRO,TRO,TRO,TRO,TRO EXON Silent,Missense_C818Y,Silent,Missense_C349Y,Silent,Silent,Silent,Missense_C421Y exm1641860 X 54955724 [T/C] NM_177556,NM_001039705,NM_177557,NM_001271183,NR_073148,NR_073149,NM_016157,NM_001271184 TRO,TRO,TRO,TRO,TRO,TRO,TRO,TRO EXON Silent,Missense_T856M,Silent,Missense_T387M,Silent,Silent,Silent,Missense_T459M exm1641877 X 54956158 [A/G] NM_177556,NM_001039705,NM_177557,NM_001271183,NR_073148,NR_073149,NM_016157,NM_001271184 TRO,TRO,TRO,TRO,TRO,TRO,TRO,TRO EXON Silent,Missense_G1001S,Silent,Missense_G532S,Silent,Silent,Silent,Missense_G604S exm1641882 X 54956251 [A/G] NM_177556,NM_001039705,NM_177557,NM_001271183,NR_073148,NR_073149,NM_016157,NM_001271184 TRO,TRO,TRO,TRO,TRO,TRO,TRO,TRO EXON Silent,Missense_A1032T,Silent,Missense_A563T,Silent,Silent,Silent,Missense_A635T exm1641885 X 54956296 [A/G] NM_177556,NM_001039705,NM_177557,NM_001271183,NR_073148,NR_073149,NM_016157,NM_001271184 TRO,TRO,TRO,TRO,TRO,TRO,TRO,TRO EXON Silent,Missense_V1047I,Silent,Missense_V578I,Silent,Silent,Silent,Missense_V650I exm1641897 X 54956510 [A/G] NM_177556,NM_001039705,NM_177557,NM_001271183,NR_073148,NR_073149,NM_016157,NM_001271184 TRO,TRO,TRO,TRO,TRO,TRO,TRO,TRO EXON Silent,Missense_D1118G,Silent,Missense_D649G,Silent,Silent,Silent,Missense_D721G exm1641900 X 54956564 [T/G] NM_177556,NM_001039705,NM_177557,NM_001271183,NR_073148,NR_073149,NM_016157,NM_001271184 TRO,TRO,TRO,TRO,TRO,TRO,TRO,TRO EXON Silent,Missense_S1136I,Silent,Missense_S667I,Silent,Silent,Silent,Missense_S739I exm1641914 X 54957045 [T/G] NM_177556,NM_001039705,NM_177557,NM_001271183,NR_073148,NR_073149,NM_016157,NM_001271184 TRO,TRO,TRO,TRO,TRO,TRO,TRO,TRO EXON Silent,Missense_N1296K,Silent,Missense_N827K,Silent,Silent,Silent,Missense_N899K exm1641916 X 54957125 [T/C] NM_177556,NM_001039705,NM_177557,NM_001271183,NR_073148,NR_073149,NM_016157,NM_001271184 TRO,TRO,TRO,TRO,TRO,TRO,TRO,TRO EXON Silent,Missense_P1323L,Silent,Missense_P854L,Silent,Silent,Silent,Missense_P926L exm1641917 X 54957176 [A/G] NM_177556,NM_001039705,NM_177557,NM_001271183,NR_073148,NR_073149,NM_016157,NM_001271184 TRO,TRO,TRO,TRO,TRO,TRO,TRO,TRO EXON Silent,Missense_G1340D,Silent,Missense_G871D,Silent,Silent,Silent,Missense_G943D exm1641942 X 54964033 [T/C] NM_001271805,NR_073450,NM_001271804,NM_002625 PFKFB1,PFKFB1,PFKFB1,PFKFB1 EXON Missense_S343N,Silent,Missense_S386N,Missense_S408N exm1641943 X 54964042 [A/G] NM_001271805,NR_073450,NM_001271804,NM_002625 PFKFB1,PFKFB1,PFKFB1,PFKFB1 EXON Missense_L340P,Silent,Missense_L383P,Missense_L405P exm1641945 X 54964063 [T/C] NM_001271805,NR_073450,NM_001271804,NM_002625 PFKFB1,PFKFB1,PFKFB1,PFKFB1 EXON Missense_R333Q,Silent,Missense_R376Q,Missense_R398Q exm1641947 X 54964076 [C/G] NM_001271805,NR_073450,NM_001271804,NM_002625 PFKFB1,PFKFB1,PFKFB1,PFKFB1 EXON Missense_Q329E,Silent,Missense_Q372E,Missense_Q394E exm1641962 X 54978349 [A/G] NM_001271805,NR_073450,NM_001271804,NM_002625 PFKFB1,PFKFB1,PFKFB1,PFKFB1 EXON Missense_R214C,Silent,Missense_R257C,Missense_R279C exm1641963 X 54978373 [T/C] NM_001271805,NR_073450,NM_001271804,NM_002625 PFKFB1,PFKFB1,PFKFB1,PFKFB1 EXON Missense_G206R,Silent,Missense_G249R,Missense_G271R exm1641968 X 54978423 [A/G] NM_001271805,NR_073450,NM_001271804,NM_002625 PFKFB1,PFKFB1,PFKFB1,PFKFB1 EXON Missense_I189T,Silent,Missense_I232T,Missense_I254T exm1641973 X 54982660 [A/C] NM_001271805,NR_073450,NM_001271804,NM_002625 PFKFB1,PFKFB1,PFKFB1,PFKFB1 EXON Missense_K123N,Silent,Missense_K166N,Missense_K188N exm1641975 X 54985294 [T/C] NM_001271805,NR_073450,NM_001271804,NM_002625 PFKFB1,PFKFB1,PFKFB1,PFKFB1 EXON Missense_H85R,Silent,Missense_H128R,Missense_H150R exm1641982 X 54986260 [T/C] NM_001271805,NR_073450,NM_001271804,NM_002625 PFKFB1,PFKFB1,PFKFB1,PFKFB1 EXON Synonymous_A63A,Silent,Synonymous_A106A,Synonymous_A128A exm1641983 X 54986261 [A/G] NM_001271805,NR_073450,NM_001271804,NM_002625 PFKFB1,PFKFB1,PFKFB1,PFKFB1 EXON Missense_A63V,Silent,Missense_A106V,Missense_A128V exm1641984 X 54986291 [T/C] NM_001271805,NR_073450,NM_001271804,NM_002625 PFKFB1,PFKFB1,PFKFB1,PFKFB1 EXON Missense_N53S,Silent,Missense_N96S,Missense_N118S exm1642012 X 55028863 [T/C] NM_014481,NM_001271748 APEX2,APEX2 EXON Missense_R141C,Silent exm2213401 X 55032975 [T/C] NM_014481,NM_001271748 APEX2,APEX2 EXON Missense_R222C,Missense_R51C exm1642031 X 55033146 [T/G] NM_014481,NM_001271748 APEX2,APEX2 EXON Missense_V279L,Missense_V108L exm1642038 X 55033290 [T/C] NM_014481,NM_001271748 APEX2,APEX2 EXON Missense_R327C,Missense_R156C exm1642042 X 55033401 [T/C] NM_014481,NM_001271748 APEX2,APEX2 EXON Missense_R364W,Missense_R193W exm1642044 X 55033435 [A/G] NM_014481,NM_001271748 APEX2,APEX2 EXON Missense_R375H,Missense_R204H exm1642046 X 55033485 [A/C] NM_014481,NM_001271748 APEX2,APEX2 EXON Missense_N392H,Missense_N221H exm1642048 X 55033563 [A/G] NM_014481,NM_001271748 APEX2,APEX2 EXON Missense_M418V,Missense_M247V exm1642053 X 55033621 [A/T] NM_014481,NM_001271748 APEX2,APEX2 EXON Missense_K437M,Missense_K266M exm1642055 X 55033665 [T/C] NM_014481,NM_001271748 APEX2,APEX2 EXON Missense_R452W,Missense_R281W exm1642068 X 55035620 [T/A] NM_001037967,NM_001037968,NM_000032 ALAS2,ALAS2,ALAS2 EXON Missense_Y549F,Missense_Y573F,Missense_Y586F exm1642072 X 55035659 [A/G] NM_001037967,NM_001037968,NM_000032 ALAS2,ALAS2,ALAS2 EXON Missense_S536F,Missense_S560F,Missense_S573F exm1642075 X 55035701 [T/C] NM_001037967,NM_001037968,NM_000032 ALAS2,ALAS2,ALAS2 EXON Missense_R522H,Missense_R546H,Missense_R559H exm1642081 X 55039960 [A/G] NM_001037967,NM_001037968,NM_000032 ALAS2,ALAS2,ALAS2 EXON Missense_P483L,Missense_P507L,Missense_P520L exm1642082 X 55039985 [T/C] NM_001037967,NM_001037968,NM_000032 ALAS2,ALAS2,ALAS2 EXON Missense_G475S,Missense_G499S,Missense_G512S exm1642087 X 55041181 [T/C] NM_001037967,NM_001037968,NM_000032 ALAS2,ALAS2,ALAS2 EXON Missense_R442Q,Missense_R466Q,Missense_R479Q exm1642100 X 55044045 [A/G] NM_001037967,NM_001037968,NM_000032 ALAS2,ALAS2,ALAS2 EXON Missense_R256C,Missense_R280C,Missense_R293C exm1642102 X 55044093 [T/C] NM_001037967,NM_001037968,NM_000032 ALAS2,ALAS2,ALAS2 EXON Missense_E240K,Missense_E264K,Missense_E277K exm1642107 X 55046923 [T/C] NM_001037967,NM_001037968,NM_000032 ALAS2,ALAS2,ALAS2 EXON Missense_R181H,Missense_R205H,Missense_R218H exm1642109 X 55047692 [T/C] NM_001037967,NM_001037968,NM_000032 ALAS2,ALAS2,ALAS2 EXON Missense_S107N,Missense_S131N,Missense_S144N exm1642112 X 55050232 [T/C] NM_001037967,NM_001037968,NM_000032 ALAS2,ALAS2,ALAS2 EXON Silent,Silent,Missense_I125V exm1642120 X 55051258 [A/G] NM_001037967,NM_001037968,NM_000032 ALAS2,ALAS2,ALAS2 EXON Missense_A66V,Missense_A90V,Missense_A66V exm1642121 X 55051265 [A/G] NM_001037967,NM_001037968,NM_000032 ALAS2,ALAS2,ALAS2 EXON Missense_S64P,Missense_S88P,Missense_S64P exm1642124 X 55054238 [T/C] NM_001037967,NM_001037968,NM_000032 ALAS2,ALAS2,ALAS2 EXON Silent,Missense_M1I,Silent exm1642145 X 55116466 [G/C] NM_207339 PAGE2 EXON Missense_L5V exm1642146 X 55116478 [A/T] NM_207339 PAGE2 EXON Missense_S9T exm1642155 X 55117037 [T/G] NM_207339 PAGE2 EXON Missense_F63V exm2263101 X 55137978 [A/G] exm1642161 X 55170238 [A/G] NM_001166699,NM_138362,NR_030722 FAM104B,FAM104B,FAM104B EXON Nonsense_Q109X,Nonsense_Q108X,Silent exm1642162 X 55170255 [A/C] NM_001166699,NM_138362,NR_030722 FAM104B,FAM104B,FAM104B EXON Missense_I103R,Missense_I102R,Silent exm1642163 X 55170259 [T/C] NM_001166699,NM_138362,NR_030722 FAM104B,FAM104B,FAM104B EXON Missense_E102K,Missense_E101K,Silent exm1642169 X 55172561 [T/C] NM_001166699,NM_138362,NR_030722,NM_001166703,NM_001166704,NM_001166700,NM_001166701,NM_001166702 FAM104B,FAM104B,FAM104B,FAM104B,FAM104B,FAM104B,FAM104B,FAM104B EXON Silent,Silent,Silent,Missense_A101T,Silent,Missense_A103T,Missense_A102T,Missense_A99T exm1642192 X 55185583 [T/A] NM_001166699,NM_138362,NR_030722,NM_001166703,NM_001166704,NM_001166700,NM_001166701,NM_001166702 FAM104B,FAM104B,FAM104B,FAM104B,FAM104B,FAM104B,FAM104B,FAM104B EXON Missense_F33L,Missense_F33L,Silent,Missense_F32L,Missense_F33L,Missense_F33L,Missense_F33L,Missense_F30L exm1642195 X 55185629 [T/C] NM_001166699,NM_138362,NR_030722,NM_001166703,NM_001166704,NM_001166700,NM_001166701,NM_001166702 FAM104B,FAM104B,FAM104B,FAM104B,FAM104B,FAM104B,FAM104B,FAM104B EXON Missense_N18S,Missense_N18S,Silent,Missense_N17S,Missense_N18S,Missense_N18S,Missense_N18S,Missense_N15S exm1642208 X 55187579 [A/C] NM_001166699,NM_138362,NR_030722,NM_001166704,NM_001166700,NM_001166701 FAM104B,FAM104B,FAM104B,FAM104B,FAM104B,FAM104B EXON Missense_C4F,Missense_C4F,Silent,Missense_C4F,Missense_C4F,Missense_C4F exm1642218 X 55247817 [T/C] NM_130467,NM_001013435 PAGE5,PAGE5 EXON Missense_M21T,Missense_M1T exm1642271 X 55513755 [C/G] NM_201286 USP51 EXON Missense_D540H exm1642287 X 55514486 [T/C] NM_201286 USP51 EXON Missense_D296G exm1642294 X 55514852 [T/C] NM_201286 USP51 EXON Missense_G174E exm2273258 X 55574773 [T/G] exm1642330 X 55650343 [C/G] NM_198451 FOXR2 EXON Missense_P67A exm1642349 X 55650977 [A/G] NM_198451 FOXR2 EXON Missense_R278H exm1642352 X 55651001 [T/C] NM_198451 FOXR2 EXON Missense_V286A exm2248879 X 55757876 [T/C] NM_016656,NM_006064 RRAGB,RRAGB EXON Missense_F153L,Missense_F125L exm2273259 X 55982443 [T/C] exm1642383 X 56291756 [T/G] NM_007250,NM_001159296 KLF8,KLF8 EXON Missense_L75F,Missense_L75F exm1642385 X 56291856 [T/C] NM_007250,NM_001159296 KLF8,KLF8 EXON Missense_R109C,Missense_R109C exm1642391 X 56292093 [A/G] NM_007250,NM_001159296 KLF8,KLF8 EXON Missense_V188M,Missense_V188M exm1642416 X 56590665 [G/C] NM_013444 UBQLN2 EXON Missense_G120A exm1642426 X 56591581 [T/G] NM_013444 UBQLN2 EXON Missense_Q425H exm1642444 X 56592058 [A/C] NM_013444 UBQLN2 EXON Missense_Q584H exm2273260 X 56889389 [T/C] exm1642453 X 57020687 [A/C] NR_027139,NM_001010862 SPIN3,SPIN3 EXON Silent,Missense_V232L exm1642504 X 57313305 [A/C] NM_174912 FAAH2 EXON Missense_A16E exm1642507 X 57313382 [T/C] NM_174912 FAAH2 EXON Missense_R42W exm1642513 X 57337033 [A/G] NM_174912 FAAH2 EXON Missense_E95K exm1642517 X 57358037 [T/C] NM_174912 FAAH2 EXON Missense_P140L exm1642522 X 57358061 [A/G] NM_174912 FAAH2 EXON Missense_R148H exm1642524 X 57358082 [T/C] NM_174912 FAAH2 EXON Missense_T155I exm1642541 X 57405161 [T/C] NM_174912 FAAH2 EXON Missense_R274C exm1642545 X 57405218 [A/C] NM_174912 FAAH2 EXON Synonymous_R293R exm1642548 X 57407400 [A/C] NM_174912 FAAH2 EXON Missense_H312N exm2277437 X 57407462 [T/G] NM_174912 FAAH2 EXON Missense_K332N exm2268490 X 57433303 [A/G] NM_174912 FAAH2 Silent exm2248882 X 57458357 [T/G] NM_174912 FAAH2 EXON Missense_V335F exm1642557 X 57458438 [A/G] NM_174912 FAAH2 EXON Missense_A362T exm1642563 X 57475022 [T/G] NM_174912 FAAH2 EXON Nonsense_E432X exm1642565 X 57475061 [G/C] NM_174912 FAAH2 EXON Missense_D445H exm1642573 X 57515249 [A/G] NM_174912 FAAH2 EXON Missense_G495R exm1642577 X 57515319 [A/G] NM_174912 FAAH2 EXON Missense_Y518C exm2268589 X 57622607 [A/G] NM_007157 ZXDB EXON Silent exm1642666 X 57934795 [T/C] NM_007156 ZXDA EXON Missense_S687N exm1642749 X 57936623 [T/G] NM_007156 ZXDA EXON Missense_P78T exm2264757 X 58123257 [A/C] exm2268491 X 58314527 [A/G] exm2273261 X 58488110 [T/C] exm2268590 X 62600135 [A/G] exm1642767 X 62863920 [T/C] NM_001173479,NM_001173480,NM_015185 ARHGEF9,ARHGEF9,ARHGEF9 EXON Missense_I384V,Missense_I335V,Missense_I437V exm1642769 X 62875470 [T/C] NM_001173479,NM_001173480,NM_015185 ARHGEF9,ARHGEF9,ARHGEF9 EXON Missense_I349V,Missense_I300V,Missense_I402V exm2248886 X 62875514 [T/C] NM_001173479,NM_001173480,NM_015185 ARHGEF9,ARHGEF9,ARHGEF9 EXON Missense_S334N,Missense_S285N,Missense_S387N exm1642776 X 62893924 [G/C] NM_001173479,NM_001173480,NM_015185 ARHGEF9,ARHGEF9,ARHGEF9 EXON Missense_D253E,Missense_D204E,Missense_D306E exm1642791 X 62944573 [T/C] NM_001173479,NM_001173480,NM_015185 ARHGEF9,ARHGEF9,ARHGEF9 EXON Silent,Silent,Missense_I10V exm1642820 X 63410516 [A/G] NM_152424 AMER1 EXON Missense_P884L exm1642822 X 63410529 [A/G] NM_152424 AMER1 EXON Missense_P880S exm1642825 X 63410664 [G/C] NM_152424 AMER1 EXON Missense_A835P exm2213670 X 63410919 [A/G] NM_152424 AMER1 EXON Missense_P750S exm1642834 X 63411010 [T/C] NM_152424 AMER1 EXON Missense_M719I exm1642837 X 63411132 [A/G] NM_152424 AMER1 EXON Missense_R679W exm1642844 X 63411294 [T/C] NM_152424 AMER1 EXON Missense_T625A exm1642847 X 63411371 [T/C] NM_152424 AMER1 EXON Missense_Y599C exm1642851 X 63411489 [A/G] NM_152424 AMER1 EXON Missense_R560W exm2213678 X 63412030 [A/G] NM_152424 AMER1 EXON Synonymous_D379D exm1642880 X 63412259 [T/C] NM_152424 AMER1 EXON Missense_G303D exm1642882 X 63412291 [G/C] NM_152424 AMER1 EXON Missense_K292N exm1642883 X 63412335 [A/C] NM_152424 AMER1 EXON Missense_A278S exm1642885 X 63412377 [T/C] NM_152424 AMER1 EXON Missense_A264T exm1642888 X 63412425 [T/G] NM_152424 AMER1 EXON Missense_P248T exm1642894 X 63412690 [A/C] NM_152424 AMER1 EXON Missense_F159L exm1642899 X 63412766 [T/G] NM_152424 AMER1 EXON Missense_H134P exm1642900 X 63412787 [A/G] NM_152424 AMER1 EXON Missense_F127S exm1642903 X 63412856 [T/C] NM_152424 AMER1 EXON Missense_H104R exm1642906 X 63412937 [T/C] NM_152424 AMER1 EXON Missense_R77Q exm1642908 X 63412982 [A/C] NM_152424 AMER1 EXON Missense_G62V exm1642914 X 63413082 [T/C] NM_152424 AMER1 EXON Missense_A29T exm1642916 X 63444245 [T/C] NM_130388 ASB12 EXON Missense_M309I exm1642917 X 63444264 [T/C] NM_130388 ASB12 EXON Missense_Q303R exm1642918 X 63444271 [T/C] NM_130388 ASB12 EXON Missense_I301V exm1642921 X 63444309 [A/G] NM_130388 ASB12 EXON Missense_V288A exm1642924 X 63444340 [A/G] NM_130388 ASB12 EXON Missense_R278W exm1642927 X 63444768 [A/G] NM_130388 ASB12 EXON Missense_L255F exm1642929 X 63444792 [A/C] NM_130388 ASB12 EXON Missense_G247C exm1642932 X 63444860 [T/C] NM_130388 ASB12 EXON Missense_R224H exm1642935 X 63444887 [T/C] NM_130388 ASB12 EXON Missense_G215D exm1642939 X 63444938 [T/C] NM_130388 ASB12 EXON Missense_R198H exm1642942 X 63444966 [T/C] NM_130388 ASB12 EXON Missense_A189T exm2213692 X 63445044 [T/C] NM_130388 ASB12 EXON Missense_A163T exm1642946 X 63445104 [T/C] NM_130388 ASB12 EXON Missense_V143M exm1642948 X 63445143 [G/C] NM_130388 ASB12 EXON Missense_A130P exm2213695 X 63445298 [T/C] NM_130388 ASB12 EXON Missense_R78H exm1642955 X 63445364 [T/C] NM_130388 ASB12 EXON Missense_R56H exm1642959 X 63445431 [T/C] NM_130388 ASB12 EXON Missense_E34K exm1642960 X 63445439 [A/G] NM_130388 ASB12 EXON Missense_T31I exm1642969 X 63488524 [A/T] NM_017677 MTMR8 EXON Missense_L670M exm1642970 X 63488525 [T/G] NM_017677 MTMR8 EXON Missense_N669K exm1642980 X 63488688 [A/G] NM_017677 MTMR8 EXON Missense_I615T exm1642981 X 63488698 [A/C] NM_017677 MTMR8 EXON Missense_C612G exm1642985 X 63488716 [T/C] NM_017677 MTMR8 EXON Missense_A606T exm1642987 X 63488745 [C/G] NM_017677 MTMR8 EXON Missense_A596G exm1642991 X 63488847 [A/C] NM_017677 MTMR8 EXON Missense_L562R exm2248888 X 63488886 [C/G] NM_017677 MTMR8 EXON Missense_C549S exm2273263 X 63491607 [T/G] NM_017677 MTMR8 Silent exm1643001 X 63551449 [T/C] NM_017677 MTMR8 EXON Missense_R447Q exm1643004 X 63551549 [A/G] NM_017677 MTMR8 EXON Missense_P414S exm1643006 X 63551581 [A/G] NM_017677 MTMR8 EXON Missense_L403P exm2213723 X 63568661 [T/C] NM_017677 MTMR8 EXON Missense_R204H exm1643036 X 63569889 [A/G] NM_017677 MTMR8 EXON Missense_V177A exm1643037 X 63569895 [A/G] NM_017677 MTMR8 EXON Missense_T175M exm1643045 X 63576149 [A/G] NM_017677 MTMR8 EXON Missense_R73C exm2277439 X 63576181 [A/G] NM_017677 MTMR8 EXON Missense_P62L exm1643048 X 63579298 [T/C] NM_017677 MTMR8 EXON Missense_R45Q exm1643049 X 63579302 [T/C] NM_017677 MTMR8 EXON Missense_A44T exm2263115 X 63604411 [T/C] NM_017677 MTMR8 Silent exm2268591 X 64025794 [A/G] exm2268492 X 64041387 [A/G] exm1643060 X 64137723 [T/A] NM_018684,NM_001178033,NM_001243804,NM_001178032,NR_045044 ZC4H2,ZC4H2,ZC4H2,ZC4H2,ZC4H2 EXON Synonymous_L205L,Missense_F151Y,Synonymous_L182L,Synonymous_L182L,Silent exm1643087 X 64196239 [T/C] NM_018684,NM_001178033,NM_001243804,NM_001178032,NR_045044 ZC4H2,ZC4H2,ZC4H2,ZC4H2,ZC4H2 EXON Missense_I7V,Missense_I7V,Silent,Silent,Silent exm-rs7064929 X 64367019 [A/G] exm1643090 X 64708833 [T/C] NM_001010888 ZC3H12B EXON Missense_L51P exm1643107 X 64721873 [T/C] NM_001010888 ZC3H12B EXON Missense_P432L exm1643129 X 64722868 [A/G] NM_001010888 ZC3H12B EXON Missense_V764M exm1643132 X 64722915 [A/G] NM_001010888 ZC3H12B EXON Missense_M779I exm1643148 X 64738059 [T/C] NM_031206,NM_001170650,NM_001170649 LAS1L,LAS1L,LAS1L EXON Missense_V579I,Missense_V520I,Missense_V562I exm1643149 X 64738103 [A/G] NM_031206,NM_001170650,NM_001170649 LAS1L,LAS1L,LAS1L EXON Missense_V564A,Missense_V505A,Missense_V547A exm1643163 X 64744122 [T/C] NM_031206,NM_001170650,NM_001170649 LAS1L,LAS1L,LAS1L EXON Missense_V372I,Missense_V313I,Missense_V355I exm1643185 X 64754591 [A/G] NM_031206,NM_001170650,NM_001170649 LAS1L,LAS1L,LAS1L EXON Missense_S2L,Missense_S2L,Missense_S2L exm2262839 X 64885677 [T/C] exm1643224 X 64959591 [A/G] NM_002444 MSN EXON Missense_A524T exm1643238 X 65242115 [A/C] NM_001257403,NM_007268,NM_001100431,NM_001184831,NM_001184830 VSIG4,VSIG4,VSIG4,VSIG4,VSIG4 EXON Silent,Missense_S397I,Missense_S303I,Silent,Silent exm1643239 X 65242157 [A/G] NM_001257403,NM_007268,NM_001100431,NM_001184831,NM_001184830 VSIG4,VSIG4,VSIG4,VSIG4,VSIG4 EXON Silent,Missense_T383I,Missense_T289I,Silent,Silent exm1643241 X 65242170 [A/G] NM_001257403,NM_007268,NM_001100431,NM_001184831,NM_001184830 VSIG4,VSIG4,VSIG4,VSIG4,VSIG4 EXON Silent,Missense_R379C,Missense_R285C,Silent,Silent exm1643247 X 65242332 [A/T] NM_001257403,NM_007268,NM_001100431,NM_001184831,NM_001184830 VSIG4,VSIG4,VSIG4,VSIG4,VSIG4 EXON Silent,Nonsense_R325X,Nonsense_R231X,Silent,Silent exm1643255 X 65244899 [T/C] NM_001257403,NM_007268,NM_001100431,NM_001184831,NM_001184830 VSIG4,VSIG4,VSIG4,VSIG4,VSIG4 EXON Missense_Y303C,Missense_Y303C,Missense_Y209C,Missense_Y209C,Missense_Y303C exm1643257 X 65244971 [T/C] NM_001257403,NM_007268,NM_001100431,NM_001184831,NM_001184830 VSIG4,VSIG4,VSIG4,VSIG4,VSIG4 EXON Missense_G279E,Missense_G279E,Missense_G185E,Missense_G185E,Missense_G279E exm1643259 X 65247311 [T/C] NM_001257403,NM_007268,NM_001100431,NM_001184831,NM_001184830 VSIG4,VSIG4,VSIG4,VSIG4,VSIG4 EXON Missense_G272E,Missense_G272E,Missense_G178E,Missense_G178E,Missense_G272E exm1643260 X 65247333 [A/T] NM_001257403,NM_007268,NM_001100431,NM_001184831,NM_001184830 VSIG4,VSIG4,VSIG4,VSIG4,VSIG4 EXON Missense_T265S,Missense_T265S,Missense_T171S,Missense_T171S,Missense_T265S exm1643274 X 65252402 [A/G] NM_001257403,NM_007268,NM_001100431,NM_001184831,NM_001184830 VSIG4,VSIG4,VSIG4,VSIG4,VSIG4 EXON Missense_A201V,Missense_A201V,Silent,Silent,Missense_A201V exm2213839 X 65253355 [A/C] NM_001257403,NM_007268,NM_001100431,NM_001184831,NM_001184830 VSIG4,VSIG4,VSIG4,VSIG4,VSIG4 EXON Missense_V125F,Missense_V125F,Missense_V125F,Missense_V125F,Missense_V125F exm2213841 X 65253405 [T/C] NM_001257403,NM_007268,NM_001100431,NM_001184831,NM_001184830 VSIG4,VSIG4,VSIG4,VSIG4,VSIG4 EXON Missense_R108Q,Missense_R108Q,Missense_R108Q,Missense_R108Q,Missense_R108Q exm1643290 X 65253406 [A/G] NM_001257403,NM_007268,NM_001100431,NM_001184831,NM_001184830 VSIG4,VSIG4,VSIG4,VSIG4,VSIG4 EXON Missense_R108W,Missense_R108W,Missense_R108W,Missense_R108W,Missense_R108W exm1643294 X 65253454 [A/C] NM_001257403,NM_007268,NM_001100431,NM_001184831,NM_001184830 VSIG4,VSIG4,VSIG4,VSIG4,VSIG4 EXON Missense_V92F,Missense_V92F,Missense_V92F,Missense_V92F,Missense_V92F exm1643298 X 65253555 [A/C] NM_001257403,NM_007268,NM_001100431,NM_001184831,NM_001184830 VSIG4,VSIG4,VSIG4,VSIG4,VSIG4 EXON Missense_V58G,Missense_V58G,Missense_V58G,Missense_V58G,Missense_V58G exm1643304 X 65253670 [A/G] NM_001257403,NM_007268,NM_001100431,NM_001184831,NM_001184830 VSIG4,VSIG4,VSIG4,VSIG4,VSIG4 EXON Missense_R20C,Missense_R20C,Missense_R20C,Missense_R20C,Missense_R20C exm1643308 X 65259810 [T/C] NM_001257403,NM_007268,NM_001100431,NM_001184831,NM_001184830 VSIG4,VSIG4,VSIG4,VSIG4,VSIG4 EXON Missense_G11R,Missense_G11R,Missense_G11R,Missense_G11R,Missense_G11R exm1643313 X 65382685 [T/C] NM_138737 HEPH EXON Missense_V39A exm1643317 X 65390555 [T/C] NM_138737,NM_001130860,NM_014799 HEPH,HEPH,HEPH EXON Missense_T102M,Missense_T51M,Silent exm1643325 X 65392388 [G/C] NM_138737,NM_001130860,NM_014799 HEPH,HEPH,HEPH EXON Missense_T174S,Missense_T123S,Silent exm2277441 X 65393493 [T/G] NM_138737,NM_001130860,NM_014799 HEPH,HEPH,HEPH EXON Missense_G213C,Missense_G162C,Silent exm1643343 X 65409574 [A/C] NM_138737,NM_001130860,NM_014799 HEPH,HEPH,HEPH EXON Missense_A340E,Missense_A289E,Missense_A19E exm1643346 X 65409588 [A/G] NM_138737,NM_001130860,NM_014799 HEPH,HEPH,HEPH EXON Missense_A345T,Missense_A294T,Missense_A24T exm1643368 X 65417554 [T/C] NM_138737,NM_001130860,NM_014799 HEPH,HEPH,HEPH EXON Missense_P565S,Missense_P514S,Missense_P244S exm1643371 X 65417576 [A/G] NM_138737,NM_001130860,NM_014799 HEPH,HEPH,HEPH EXON Missense_R572H,Missense_R521H,Missense_R251H exm1643374 X 65417656 [T/C] NM_138737,NM_001130860,NM_014799 HEPH,HEPH,HEPH EXON Missense_P599S,Missense_P548S,Missense_P278S exm1643378 X 65417719 [A/G] NM_138737,NM_001130860,NM_014799 HEPH,HEPH,HEPH EXON Missense_G620S,Missense_G569S,Missense_G299S exm1643381 X 65418789 [A/G] NM_138737,NM_001130860,NM_014799 HEPH,HEPH,HEPH EXON Missense_A649T,Missense_A598T,Missense_A328T exm1643386 X 65420450 [A/C] NM_138737,NM_001130860,NM_014799 HEPH,HEPH,HEPH EXON Missense_H699N,Missense_H648N,Missense_H378N exm1643389 X 65423217 [A/C] NM_138737,NM_001130860,NM_014799 HEPH,HEPH,HEPH EXON Missense_I751L,Missense_I700L,Missense_I430L exm1643390 X 65423236 [A/G] NM_138737,NM_001130860,NM_014799 HEPH,HEPH,HEPH EXON Missense_S757N,Missense_S706N,Missense_S436N exm1643396 X 65423344 [G/C] NM_138737,NM_001130860,NM_014799 HEPH,HEPH,HEPH EXON Missense_A793G,Missense_A742G,Missense_A472G exm1643408 X 65474912 [A/T] NM_138737,NM_001130860,NM_014799 HEPH,HEPH,HEPH EXON Missense_R921W,Missense_R870W,Missense_R600W exm1643411 X 65474931 [A/G] NM_138737,NM_001130860,NM_014799 HEPH,HEPH,HEPH EXON Missense_N927S,Missense_N876S,Missense_N606S exm1643433 X 65486284 [T/G] NM_138737,NM_001130860,NM_014799 HEPH,HEPH,HEPH EXON Missense_V1137L,Silent,Missense_V816L exm1643435 X 65486296 [T/G] NM_138737,NM_001130860,NM_014799 HEPH,HEPH,HEPH EXON Missense_D1141Y,Missense_D1089Y,Missense_D820Y exm1643437 X 65486440 [C/G] NM_138737,NM_001130860,NM_014799 HEPH,HEPH,HEPH EXON Missense_R1189G,Missense_R1137G,Missense_R868G exm-rs2840240 X 65606556 [G/C] exm-rs5965182 X 65606693 [T/A] exm1643444 X 65819397 [A/C] NM_001242310,NM_021783,NM_001199687 EDA2R,EDA2R,EDA2R EXON Missense_G296W,Missense_G275W,Missense_G275W exm1643454 X 65819549 [A/G] NM_001242310,NM_021783,NM_001199687 EDA2R,EDA2R,EDA2R EXON Missense_S245L,Missense_S224L,Missense_S224L exm1643461 X 65822607 [T/C] NM_001242310,NM_021783,NM_001199687 EDA2R,EDA2R,EDA2R EXON Missense_T129A,Missense_T129A,Missense_T129A exm2213899 X 65824292 [A/G] NM_001242310,NM_021783,NM_001199687 EDA2R,EDA2R,EDA2R EXON Missense_T108M,Missense_T108M,Missense_T108M exm1643467 X 65824340 [T/C] NM_001242310,NM_021783,NM_001199687 EDA2R,EDA2R,EDA2R EXON Missense_R92Q,Missense_R92Q,Missense_R92Q exm1643468 X 65824341 [A/G] NM_001242310,NM_021783,NM_001199687 EDA2R,EDA2R,EDA2R EXON Nonsense_R92X,Nonsense_R92X,Nonsense_R92X exm1643469 X 65824986 [T/C] NM_001242310,NM_021783,NM_001199687 EDA2R,EDA2R,EDA2R EXON Missense_R57K,Missense_R57K,Missense_R57K exm1643473 X 65835822 [T/C] NM_001242310,NM_021783,NM_001199687 EDA2R,EDA2R,EDA2R EXON Missense_R14Q,Missense_R14Q,Missense_R14Q exm1643475 X 65835841 [A/G] NM_001242310,NM_021783,NM_001199687 EDA2R,EDA2R,EDA2R EXON Missense_Y8H,Missense_Y8H,Missense_Y8H exm2268592 X 66047345 [A/G] exm-rs6625163 X 66510984 [A/G] exm2268495 X 66755403 [A/G] exm1643479 X 66765122 [G/C] NM_000044 AR EXON Missense_A45G exm1643506 X 66766127 [G/C] NM_000044 AR EXON Missense_P380R exm2268593 X 66796087 [A/G] NM_000044,NM_001011645 AR,AR Silent,Silent exm1643541 X 66905875 [A/G] NM_000044,NM_001011645 AR,AR EXON Missense_S598G,Missense_S66G exm1643544 X 66931295 [A/C] NM_000044,NM_001011645 AR,AR EXON Missense_A646D,Missense_A114D exm1643545 X 66931318 [A/G] NM_000044,NM_001011645 AR,AR EXON Missense_E654K,Missense_E122K exm1643551 X 66937326 [T/G] NM_000044,NM_001011645 AR,AR EXON Missense_R727L,Missense_R195L exm1643556 X 66941751 [G/C] NM_000044,NM_001011645 AR,AR EXON Missense_Q799E,Missense_Q267E exm-rs5031002 X 66942625 [A/G] NM_000044,NM_001011645 AR,AR Silent,Silent exm1643560 X 66942700 [A/C] NM_000044,NM_001011645 AR,AR EXON Missense_F827L,Missense_F295L exm1643568 X 67272395 [A/G] NM_002547 OPHN1 EXON Missense_R788W exm1643571 X 67273508 [A/G] NM_002547 OPHN1 EXON Missense_A768V exm1643576 X 67283775 [T/C] NM_002547 OPHN1 EXON Missense_M693I exm1643577 X 67283792 [A/C] NM_002547 OPHN1 EXON Missense_A688S exm1643578 X 67283798 [A/G] NM_002547 OPHN1 EXON Missense_P686S exm1643579 X 67283825 [T/G] NM_002547 OPHN1 EXON Missense_L677M exm1643611 X 67426446 [A/G] NM_002547 OPHN1 EXON Missense_T301M exm2273265 X 67604131 [T/C] NM_002547 OPHN1 Silent exm1643632 X 67652730 [T/C] NM_002547 OPHN1 EXON Missense_A45T exm1643633 X 67652748 [T/C] NM_002547 OPHN1 EXON Missense_V39I exm1643646 X 67741262 [A/C] NM_001195214,NM_173834 YIPF6,YIPF6 EXON Missense_Q76H,Missense_Q119H exm1643657 X 67932761 [A/G] NM_001142503,NM_014725,NM_001142504 STARD8,STARD8,STARD8 EXON Missense_E29K,Silent,Silent exm1643658 X 67932779 [A/G] NM_001142503,NM_014725,NM_001142504 STARD8,STARD8,STARD8 EXON Missense_E35K,Silent,Silent exm1643671 X 67937201 [A/G] NM_001142503,NM_014725,NM_001142504 STARD8,STARD8,STARD8 EXON Missense_V149I,Missense_V69I,Missense_V69I exm1643678 X 67937306 [T/C] NM_001142503,NM_014725,NM_001142504 STARD8,STARD8,STARD8 EXON Missense_R184W,Missense_R104W,Missense_R104W exm1643681 X 67937363 [T/C] NM_001142503,NM_014725,NM_001142504 STARD8,STARD8,STARD8 EXON Missense_R203C,Missense_R123C,Missense_R123C exm1643683 X 67937370 [A/G] NM_001142503,NM_014725,NM_001142504 STARD8,STARD8,STARD8 EXON Missense_R205H,Missense_R125H,Missense_R125H exm1643684 X 67937495 [A/G] NM_001142503,NM_014725,NM_001142504 STARD8,STARD8,STARD8 EXON Missense_S247G,Missense_S167G,Missense_S167G exm1643685 X 67937502 [A/G] NM_001142503,NM_014725,NM_001142504 STARD8,STARD8,STARD8 EXON Missense_R249H,Missense_R169H,Missense_R169H exm1643687 X 67937558 [A/G] NM_001142503,NM_014725,NM_001142504 STARD8,STARD8,STARD8 EXON Missense_G268S,Missense_G188S,Missense_G188S exm2277442 X 67937657 [A/G] NM_001142503,NM_014725,NM_001142504 STARD8,STARD8,STARD8 EXON Missense_V301I,Missense_V221I,Missense_V221I exm1643691 X 67937674 [A/C] NM_001142503,NM_014725,NM_001142504 STARD8,STARD8,STARD8 EXON Missense_K306N,Missense_K226N,Missense_K226N exm1643693 X 67937724 [A/G] NM_001142503,NM_014725,NM_001142504 STARD8,STARD8,STARD8 EXON Missense_D323G,Missense_D243G,Missense_D243G exm1643700 X 67937924 [A/G] NM_001142503,NM_014725,NM_001142504 STARD8,STARD8,STARD8 EXON Missense_D390N,Missense_D310N,Missense_D310N exm1643702 X 67937939 [A/G] NM_001142503,NM_014725,NM_001142504 STARD8,STARD8,STARD8 EXON Missense_V395M,Missense_V315M,Missense_V315M exm1643704 X 67937976 [A/G] NM_001142503,NM_014725,NM_001142504 STARD8,STARD8,STARD8 EXON Missense_R407Q,Missense_R327Q,Missense_R327Q exm1643705 X 67937978 [A/G] NM_001142503,NM_014725,NM_001142504 STARD8,STARD8,STARD8 EXON Missense_A408T,Missense_A328T,Missense_A328T exm1643706 X 67937979 [T/C] NM_001142503,NM_014725,NM_001142504 STARD8,STARD8,STARD8 EXON Missense_A408V,Missense_A328V,Missense_A328V exm1643708 X 67938040 [A/C] NM_001142503,NM_014725,NM_001142504 STARD8,STARD8,STARD8 EXON Missense_E428D,Missense_E348D,Missense_E348D exm1643713 X 67938156 [T/C] NM_001142503,NM_014725,NM_001142504 STARD8,STARD8,STARD8 EXON Missense_P467L,Missense_P387L,Missense_P387L exm1643715 X 67938228 [T/C] NM_001142503,NM_014725,NM_001142504 STARD8,STARD8,STARD8 EXON Missense_P491L,Missense_P411L,Missense_P411L exm1643718 X 67938242 [G/C] NM_001142503,NM_014725,NM_001142504 STARD8,STARD8,STARD8 EXON Missense_D496H,Missense_D416H,Missense_D416H exm1643719 X 67938269 [A/G] NM_001142503,NM_014725,NM_001142504 STARD8,STARD8,STARD8 EXON Missense_G505R,Missense_G425R,Missense_G425R exm1643725 X 67938420 [A/C] NM_001142503,NM_014725,NM_001142504 STARD8,STARD8,STARD8 EXON Missense_P555H,Missense_P475H,Missense_P475H exm1643730 X 67939123 [T/C] NM_001142503,NM_014725,NM_001142504 STARD8,STARD8,STARD8 EXON Missense_S591L,Missense_S511L,Missense_S511L exm1643733 X 67939195 [T/C] NM_001142503,NM_014725,NM_001142504 STARD8,STARD8,STARD8 EXON Missense_A615V,Missense_A535V,Missense_A535V exm1643734 X 67940114 [T/C] NM_001142503,NM_014725,NM_001142504 STARD8,STARD8,STARD8 EXON Missense_P633L,Missense_P553L,Missense_P553L exm1643735 X 67940126 [A/G] NM_001142503,NM_014725,NM_001142504 STARD8,STARD8,STARD8 EXON Missense_R637K,Missense_R557K,Missense_R557K exm1643737 X 67940194 [T/C] NM_001142503,NM_014725,NM_001142504 STARD8,STARD8,STARD8 EXON Missense_R660C,Missense_R580C,Missense_R580C exm1643740 X 67940201 [G/C] NM_001142503,NM_014725,NM_001142504 STARD8,STARD8,STARD8 EXON Missense_G662A,Missense_G582A,Missense_G582A exm1643744 X 67940844 [A/G] NM_001142503,NM_014725,NM_001142504 STARD8,STARD8,STARD8 EXON Missense_V710I,Missense_V630I,Missense_V630I exm1643756 X 67941902 [T/C] NM_001142503,NM_014725,NM_001142504 STARD8,STARD8,STARD8 EXON Missense_R825C,Missense_R745C,Missense_R745C exm1643772 X 67943522 [T/C] NM_001142503,NM_014725,NM_001142504 STARD8,STARD8,STARD8 EXON Missense_P952S,Missense_P872S,Missense_P872S exm1643776 X 67943646 [A/G] NM_001142503,NM_014725,NM_001142504 STARD8,STARD8,STARD8 EXON Missense_S993N,Missense_S913N,Missense_S913N exm1643778 X 67943669 [A/G] NM_001142503,NM_014725,NM_001142504 STARD8,STARD8,STARD8 EXON Missense_D1001N,Missense_D921N,Missense_D921N exm1643783 X 67943902 [T/C] NM_001142503,NM_014725,NM_001142504 STARD8,STARD8,STARD8 EXON Missense_L1045F,Missense_L965F,Missense_L965F exm1643788 X 67943951 [A/G] NM_001142503,NM_014725,NM_001142504 STARD8,STARD8,STARD8 EXON Missense_R1061Q,Missense_R981Q,Missense_R981Q exm2248893 X 67943954 [T/C] NM_001142503,NM_014725,NM_001142504 STARD8,STARD8,STARD8 EXON Missense_A1062V,Missense_A982V,Missense_A982V exm1643806 X 68059561 [A/G] NM_004429 EFNB1 EXON Missense_R154H exm1643807 X 68059812 [T/C] NM_004429 EFNB1 EXON Missense_A170V exm1643808 X 68059843 [T/G] NM_004429 EFNB1 EXON Missense_R180S exm1643809 X 68059868 [A/G] NM_004429 EFNB1 EXON Missense_V189I exm1643810 X 68059869 [T/C] NM_004429 EFNB1 EXON Missense_V189A exm2263124 X 68123169 [A/G] exm1643833 X 68381264 [A/C] NM_022368,NM_145119,NM_001032396 PJA1,PJA1,PJA1 EXON Missense_E418D,Missense_E606D,Missense_E551D exm1643841 X 68381633 [A/C] NM_022368,NM_145119,NM_001032396 PJA1,PJA1,PJA1 EXON Missense_L295F,Missense_L483F,Missense_L428F exm1643851 X 68381772 [G/C] NM_022368,NM_145119,NM_001032396 PJA1,PJA1,PJA1 EXON Missense_G249A,Missense_G437A,Missense_G382A exm1643853 X 68381787 [T/C] NM_022368,NM_145119,NM_001032396 PJA1,PJA1,PJA1 EXON Missense_S244N,Missense_S432N,Missense_S377N exm1643857 X 68381797 [T/C] NM_022368,NM_145119,NM_001032396 PJA1,PJA1,PJA1 EXON Missense_A241T,Missense_A429T,Missense_A374T exm2277443 X 68381832 [A/G] NM_022368,NM_145119,NM_001032396 PJA1,PJA1,PJA1 EXON Missense_P229L,Missense_P417L,Missense_P362L exm1643863 X 68381877 [T/C] NM_022368,NM_145119,NM_001032396 PJA1,PJA1,PJA1 EXON Missense_R214Q,Missense_R402Q,Missense_R347Q exm1643865 X 68381917 [T/C] NM_022368,NM_145119,NM_001032396 PJA1,PJA1,PJA1 EXON Missense_S201G,Missense_S389G,Missense_S334G exm1643886 X 68382666 [A/G] NM_022368,NM_145119,NM_001032396 PJA1,PJA1,PJA1 EXON Silent,Missense_V139A,Missense_V84A exm1643889 X 68382773 [C/G] NM_022368,NM_145119,NM_001032396 PJA1,PJA1,PJA1 EXON Silent,Missense_E103D,Missense_E48D exm2273138 X 68602393 [T/C] exm1643913 X 68725601 [T/C] NM_015686 FAM155B EXON Missense_P159L exm1643917 X 68725640 [T/C] NM_015686 FAM155B EXON Missense_L172P exm1643922 X 68725795 [G/C] NM_015686 FAM155B EXON Missense_L224V exm1643925 X 68725816 [A/G] NM_015686 FAM155B EXON Missense_V231M exm1643931 X 68725840 [A/G] NM_015686 FAM155B EXON Missense_A239T exm1643940 X 68748939 [A/G] NM_015686 FAM155B EXON Missense_R322Q exm1643944 X 68749416 [T/G] NM_015686 FAM155B EXON Missense_L346V exm1643947 X 68749483 [T/C] NM_015686 FAM155B EXON Missense_A368V exm-rs4844096 X 68805318 [A/G] exm2268594 X 68835405 [A/G] exm1643982 X 69176938 [A/G] NM_001399,NM_001005609,NM_001005612 EDA,EDA,EDA EXON Missense_R153H,Missense_R153H,Missense_R153H exm1643983 X 69176944 [A/G] NM_001399,NM_001005609,NM_001005612 EDA,EDA,EDA EXON Missense_R155H,Missense_R155H,Missense_R155H exm1644012 X 69255284 [A/G] NM_001399,NM_001005609,NM_001005612 EDA,EDA,EDA EXON Missense_R334H,Missense_R332H,Missense_R329H exm1644021 X 69261741 [A/G] NM_001002254 AWAT2 EXON Missense_Y307H exm1644031 X 69262937 [T/C] NM_001002254 AWAT2 EXON Missense_R210H exm1644032 X 69262953 [A/G] NM_001002254 AWAT2 EXON Missense_R205W exm1644041 X 69263501 [T/C] NM_001002254 AWAT2 EXON Missense_R100H exm1644043 X 69263514 [T/C] NM_001002254 AWAT2 EXON Missense_I96V exm1644045 X 69263793 [T/C] NM_001002254 AWAT2 EXON Missense_D84N exm2268497 X 69277077 [A/G] exm1644050 X 69282393 [G/C] NM_207320 OTUD6A EXON Missense_E7Q exm1644054 X 69282652 [A/G] NM_207320 OTUD6A EXON Missense_K93R exm1644058 X 69282867 [A/G] NM_207320 OTUD6A EXON Missense_V165M exm1644072 X 69353856 [A/G] NM_001551 IGBP1 EXON Missense_R20K exm2262846 X 69356927 [T/C] NM_001551 IGBP1 Silent exm1644091 X 69370125 [A/G] NM_001551 IGBP1 EXON Missense_R275Q exm2214094 X 69370143 [T/C] NM_001551 IGBP1 EXON Missense_P281L exm1644110 X 69419713 [A/G] NM_198512 DGAT2L6 EXON Missense_R83Q exm1644115 X 69420222 [T/C] NM_198512 DGAT2L6 EXON Missense_R129W exm1644118 X 69420288 [T/C] NM_198512 DGAT2L6 EXON Nonsense_R151X exm1644119 X 69420297 [A/G] NM_198512 DGAT2L6 EXON Missense_V154M exm1644130 X 69424238 [T/G] NM_198512 DGAT2L6 EXON Missense_L244W exm1644140 X 69424867 [A/G] NM_198512 DGAT2L6 EXON Missense_A309T exm1644141 X 69424888 [A/C] NM_198512 DGAT2L6 EXON Missense_R316S exm1644148 X 69455671 [A/G] NM_001013579 AWAT1 EXON Missense_R61Q exm1644149 X 69455931 [T/C] NM_001013579 AWAT1 EXON Missense_S66L exm1644167 X 69458215 [A/G] NM_001013579 AWAT1 EXON Missense_R205H exm1644169 X 69459599 [T/C] NM_001013579 AWAT1 EXON Missense_P216L exm1644175 X 69459748 [A/G] NM_001013579 AWAT1 EXON Missense_G266R exm1644189 X 69478417 [T/C] NM_002565 P2RY4 EXON Missense_Q353R exm1644191 X 69478421 [T/G] NM_002565 P2RY4 EXON Missense_P352T exm1644193 X 69478432 [T/C] NM_002565 P2RY4 EXON Nonsense_W348X exm1644197 X 69478522 [T/C] NM_002565 P2RY4 EXON Missense_R318H exm1644199 X 69478598 [G/C] NM_002565 P2RY4 EXON Missense_P293A exm1644202 X 69478663 [A/G] NM_002565 P2RY4 EXON Missense_A271V exm1644204 X 69478736 [T/C] NM_002565 P2RY4 EXON Missense_I247V exm1644208 X 69478775 [A/C] NM_002565 P2RY4 EXON Missense_S234A exm1644221 X 69478942 [T/G] NM_002565 P2RY4 EXON Missense_N178T exm1644225 X 69478973 [T/C] NM_002565 P2RY4 EXON Missense_V168M exm1644229 X 69479021 [T/C] NM_002565 P2RY4 EXON Missense_A152T exm1644234 X 69479105 [A/G] NM_002565 P2RY4 EXON Missense_L124F exm1644236 X 69479172 [T/C] NM_002565 P2RY4 EXON Nonsense_W101X exm1644246 X 69479374 [T/C] NM_002565 P2RY4 EXON Missense_K34R exm1644247 X 69479416 [T/C] NM_002565 P2RY4 EXON Missense_S20N exm1644262 X 69495959 [A/G] NM_004312 ARR3 EXON Missense_R58H exm1644269 X 69496283 [A/G] NM_004312 ARR3 EXON Missense_M116V exm1644282 X 69497605 [A/G] NM_004312 ARR3 EXON Missense_I217V exm1644285 X 69497622 [A/C] NM_004312 ARR3 EXON Missense_N222K exm1644292 X 69498455 [T/C] NM_004312 ARR3 EXON Missense_L290P exm1644293 X 69498482 [G/C] NM_004312 ARR3 EXON Missense_S299C exm1644295 X 69500053 [T/C] NM_004312 ARR3 EXON Missense_P305L exm1644314 X 69502179 [A/G] NM_001032726 RAB41 EXON Missense_G38R exm1644325 X 69503221 [T/C] NM_001032726 RAB41 EXON Missense_T113I exm1644336 X 69504122 [T/C] NM_001032726 RAB41 EXON Missense_R185W exm1644346 X 69508350 [A/G] NM_016484 PDZD11 EXON Missense_P34L exm1644369 X 69561650 [A/G] NM_012310 KIF4A EXON Missense_V379M exm1644370 X 69561780 [T/G] NM_012310 KIF4A EXON Missense_L422W exm1644371 X 69563562 [T/G] NM_012310 KIF4A EXON Missense_A426S exm1644385 X 69572506 [T/C] NM_012310 KIF4A EXON Synonymous_A496A exm1644396 X 69595981 [A/G] NM_012310 KIF4A EXON Missense_R652H exm1644397 X 69596059 [A/G] NM_012310 KIF4A EXON Missense_R678Q exm1644413 X 69622481 [T/A] NM_012310 KIF4A EXON Missense_Q852L exm1644422 X 69626146 [A/G] NM_012310 KIF4A EXON Missense_H1005R exm1644437 X 69639626 [A/G] NM_012310 KIF4A EXON Missense_N1163S exm1644460 X 69646306 [A/G] NM_017711,NM_001171192,NM_001171193,NM_001171191 GDPD2,GDPD2,GDPD2,GDPD2 EXON Missense_R150H,Missense_R150H,Missense_R71H,Missense_R71H exm1644475 X 69649407 [T/C] NM_017711,NM_001171192,NM_001171193,NM_001171191 GDPD2,GDPD2,GDPD2,GDPD2 EXON Missense_T334M,Missense_T334M,Missense_T255M,Missense_T255M exm1644482 X 69649837 [A/C] NM_017711,NM_001171192,NM_001171193,NM_001171191 GDPD2,GDPD2,GDPD2,GDPD2 EXON Missense_R411S,Missense_R411S,Missense_R332S,Missense_R332S exm2248898 X 69652206 [C/G] NM_017711,NM_001171192,NM_001171193,NM_001171191 GDPD2,GDPD2,GDPD2,GDPD2 EXON Missense_P453A,Missense_P504A,Missense_P374A,Missense_P374A exm1644493 X 69652762 [A/G] NM_017711,NM_001171192,NM_001171193,NM_001171191 GDPD2,GDPD2,GDPD2,GDPD2 EXON Synonymous_R513R,Synonymous_R564R,Synonymous_R434R,Synonymous_R434R exm1644503 X 69652930 [A/G] NM_017711,NM_001171192,NM_001171193,NM_001171191 GDPD2,GDPD2,GDPD2,GDPD2 EXON Missense_M538I,Missense_M589I,Missense_M459I,Missense_M459I exm1644513 X 69665355 [A/G] NM_021120 DLG3 EXON Missense_G102S exm1644547 X 69672519 [C/G] NM_021120,NM_020730 DLG3,DLG3 EXON Silent,Missense_L16F exm1644564 X 69715265 [T/C] NM_021120,NM_020730,NM_001166278 DLG3,DLG3,DLG3 EXON Missense_P594L,Silent,Silent exm2214263 X 69720790 [A/C] NM_021120,NM_020730,NM_001166278 DLG3,DLG3,DLG3 EXON Synonymous_I766I,Synonymous_I461I,Synonymous_I315I exm1644574 X 69720792 [A/G] NM_021120,NM_020730,NM_001166278 DLG3,DLG3,DLG3 EXON Missense_Y767C,Missense_Y462C,Missense_Y316C exm1644579 X 69749022 [T/C] NM_031276,NM_001003811 TEX11,TEX11 EXON Missense_S901G,Missense_S916G exm1644592 X 69773162 [T/C] NM_031276,NM_001003811 TEX11,TEX11 EXON Missense_Q798R,Missense_Q813R exm1644597 X 69774548 [A/G] NM_031276,NM_001003811 TEX11,TEX11 EXON Missense_V748A,Missense_V763A exm1644604 X 69825271 [T/C] NM_031276,NM_001003811 TEX11,TEX11 EXON Missense_A683T,Missense_A698T exm1644606 X 69825324 [T/C] NM_031276,NM_001003811 TEX11,TEX11 EXON Missense_R665Q,Missense_R680Q exm1644613 X 69849558 [T/G] NM_031276,NM_001003811 TEX11,TEX11 EXON Missense_N504T,Missense_N519T exm1644615 X 69871310 [T/G] NM_031276,NM_001003811 TEX11,TEX11 EXON Missense_N491K,Missense_N506K exm1644621 X 69890301 [T/C] NM_031276,NM_001003811 TEX11,TEX11 EXON Missense_E436K,Missense_E451K exm2273139 X 69891760 [T/C] NM_031276,NM_001003811 TEX11,TEX11 Silent,Silent exm1644646 X 70072943 [T/C] NM_031276,NM_001003811 TEX11,TEX11 EXON Missense_M156V,Missense_M171V exm1644649 X 70073098 [A/G] NM_031276,NM_001003811 TEX11,TEX11 EXON Synonymous_A135A,Synonymous_A150A exm1644651 X 70073159 [T/C] NM_031276,NM_001003811 TEX11,TEX11 EXON Missense_K115R,Missense_K130R exm1644661 X 70145724 [T/C] NM_001048164,NM_032803 SLC7A3,SLC7A3 EXON Missense_R600H,Missense_R600H exm1644662 X 70145725 [A/G] NM_001048164,NM_032803 SLC7A3,SLC7A3 EXON Missense_R600C,Missense_R600C exm1644663 X 70145757 [G/C] NM_001048164,NM_032803 SLC7A3,SLC7A3 EXON Missense_S589T,Missense_S589T exm1644669 X 70146475 [C/G] NM_001048164,NM_032803 SLC7A3,SLC7A3 EXON Missense_L508V,Missense_L508V exm1644678 X 70147432 [A/G] NM_001048164,NM_032803 SLC7A3,SLC7A3 EXON Missense_A362V,Missense_A362V exm1644687 X 70147846 [T/C] NM_001048164,NM_032803 SLC7A3,SLC7A3 EXON Missense_R282H,Missense_R282H exm1644699 X 70148456 [A/G] NM_001048164,NM_032803 SLC7A3,SLC7A3 EXON Missense_S186L,Missense_S186L exm2273140 X 70206156 [T/G] exm1644747 X 70320775 [T/C] NM_005938,NM_001170931 FOXO4,FOXO4 EXON Missense_V232A,Missense_V177A exm1644752 X 70320831 [A/G] NM_005938,NM_001170931 FOXO4,FOXO4 EXON Missense_D251N,Missense_D196N exm1644756 X 70320982 [A/G] NM_005938,NM_001170931 FOXO4,FOXO4 EXON Missense_N301S,Missense_N246S exm1644771 X 70323922 [T/C] NM_001025265,NR_033212 CXorf65,CXorf65 EXON Missense_R156H,Silent exm1644772 X 70323946 [T/C] NM_001025265,NR_033212 CXorf65,CXorf65 EXON Missense_R148Q,Silent exm2214360 X 70325901 [A/G] NM_001025265,NR_033212 CXorf65,CXorf65 EXON Missense_L67F,Silent exm1644786 X 70325963 [A/G] NM_001025265,NR_033212 CXorf65,CXorf65 EXON Missense_T46M,Silent exm1644807 X 70330483 [T/C] NM_000206 IL2RG EXON Missense_E109K exm1644912 X 70357135 [A/G] NM_005120 MED12 EXON Missense_G1884S exm1644913 X 70357196 [T/C] NM_005120 MED12 EXON Missense_A1904V exm2248908 X 70375072 [A/G] NM_001166660,NM_018977,NM_181303 NLGN3,NLGN3,NLGN3 EXON Missense_D156N,Missense_D176N,Missense_D196N exm1644977 X 70389354 [A/G] NM_001166660,NM_018977,NM_181303 NLGN3,NLGN3,NLGN3 EXON Missense_T612A,Missense_T632A,Missense_T652A exm1645003 X 70444054 [T/G] NR_001568,NM_001097642,NM_000166 BCYRN1,GJB1,GJB1 EXON Silent,Missense_V166G,Missense_V166G exm2262847 X 70452644 [A/C] NR_001568 BCYRN1 Silent exm1645026 X 70461191 [A/G] NR_001568,NM_005096,NM_001171162,NM_201599 BCYRN1,ZMYM3,ZMYM3,ZMYM3 EXON Silent,Missense_T1269M,Missense_T1257M,Missense_T1269M exm1645064 X 70466490 [G/C] NR_001568,NM_005096,NM_001171162,NM_201599 BCYRN1,ZMYM3,ZMYM3,ZMYM3 EXON Silent,Missense_N789K,Missense_N789K,Missense_N789K exm1645094 X 70469961 [T/C] NR_001568,NM_005096,NM_001171162,NM_201599,NM_001171163 BCYRN1,ZMYM3,ZMYM3,ZMYM3,ZMYM3 EXON Silent,Missense_Y389C,Missense_Y389C,Missense_Y389C,Missense_Y389C exm1645123 X 70472767 [A/C] NR_001568,NM_005096,NM_001171162,NM_201599,NM_001171163 BCYRN1,ZMYM3,ZMYM3,ZMYM3,ZMYM3 EXON Silent,Missense_E113D,Missense_E113D,Missense_E113D,Missense_E113D exm1645157 X 70518564 [T/G] NR_001568,NM_007363,NM_001145409,NM_001145410,NM_001145408 BCYRN1,NONO,NONO,NONO,NONO EXON Silent,Missense_M393I,Missense_M393I,Missense_M304I,Missense_M393I exm1645168 X 70521693 [T/C] NR_001568,NM_012278 BCYRN1,ITGB1BP2 EXON Silent,Missense_H13Y exm1645195 X 70524980 [A/G] NR_001568,NM_012278 BCYRN1,ITGB1BP2 EXON Silent,Missense_D328N exm1645200 X 70586196 [T/C] NR_001568,NM_004606,NM_138923 BCYRN1,TAF1,TAF1 EXON Silent,Missense_T11I,Missense_T11I exm1645210 X 70595086 [T/C] NR_001568,NM_004606,NM_138923 BCYRN1,TAF1,TAF1 EXON Silent,Missense_P161L,Missense_P161L exm1645221 X 70597546 [G/C] NR_001568,NM_004606,NM_138923 BCYRN1,TAF1,TAF1 EXON Silent,Missense_L290V,Missense_L269V exm1645225 X 70597631 [G/C] NR_001568,NM_004606,NM_138923 BCYRN1,TAF1,TAF1 EXON Silent,Missense_A318G,Missense_A297G exm1645237 X 70601649 [A/G] NR_001568,NM_004606,NM_138923 BCYRN1,TAF1,TAF1 EXON Silent,Missense_N493D,Missense_N472D exm1645283 X 70643893 [A/G] NR_001568,NM_004606,NM_138923 BCYRN1,TAF1,TAF1 EXON Silent,Missense_M1569V,Missense_M1548V exm1645290 X 70678143 [G/C] NR_001568,NM_004606,NM_138923 BCYRN1,TAF1,TAF1 EXON Silent,Missense_S1684C,Missense_S1663C exm1645293 X 70679406 [G/C] NR_001568,NM_004606,NM_138923 BCYRN1,TAF1,TAF1 EXON Silent,Missense_G1710A,Missense_G1689A exm1645297 X 70680560 [A/G] NR_001568,NM_004606,NM_138923 BCYRN1,TAF1,TAF1 EXON Silent,Missense_N1789S,Missense_N1768S exm1645349 X 70787601 [A/G] NR_001568,NM_181673,NM_181672 BCYRN1,OGT,OGT EXON Silent,Synonymous_P937P,Synonymous_P947P exm1645353 X 70800682 [A/G] NR_001568,NM_052957 BCYRN1,ACRC EXON Silent,Missense_C4Y exm1645355 X 70800711 [T/C] NR_001568,NM_052957 BCYRN1,ACRC EXON Silent,Missense_P14S exm1645365 X 70814183 [A/G] NR_001568,NM_052957 BCYRN1,ACRC EXON Silent,Missense_C48Y exm1645368 X 70817804 [A/G] NR_001568,NM_052957 BCYRN1,ACRC EXON Silent,Missense_V76M exm1645387 X 70823692 [T/C] NR_001568,NM_052957 BCYRN1,ACRC EXON Silent,Missense_P189S exm1645393 X 70823780 [A/G] NR_001568,NM_052957 BCYRN1,ACRC EXON Silent,Missense_K218R exm2248910 X 70823870 [A/G] NR_001568,NM_052957 BCYRN1,ACRC EXON Silent,Missense_S248N exm1645423 X 70824133 [A/G] NR_001568,NM_052957 BCYRN1,ACRC EXON Silent,Missense_V336M exm1645429 X 70824450 [T/G] NR_001568,NM_052957 BCYRN1,ACRC EXON Silent,Missense_R441S exm1645430 X 70824523 [T/C] NR_001568,NM_052957 BCYRN1,ACRC EXON Silent,Missense_P466S exm1645435 X 70828953 [A/G] NR_001568,NM_052957 BCYRN1,ACRC EXON Silent,Missense_V533I exm1645450 X 70832741 [T/C] NR_001568,NM_052957 BCYRN1,ACRC EXON Silent,Missense_T662I exm1645451 X 70832746 [T/C] NR_001568,NM_052957 BCYRN1,ACRC EXON Silent,Missense_R664C exm1645453 X 70832813 [A/G] NR_001568,NM_052957 BCYRN1,ACRC EXON Silent,Missense_R686H exm1645456 X 70836332 [A/C] NR_001568,NM_001142797,NM_001504 BCYRN1,CXCR3,CXCR3 EXON Silent,Missense_W377C,Missense_W330C exm1645457 X 70836350 [G/C] NR_001568,NM_001142797,NM_001504 BCYRN1,CXCR3,CXCR3 EXON Silent,Missense_K371N,Missense_K324N exm1645461 X 70836447 [T/C] NR_001568,NM_001142797,NM_001504 BCYRN1,CXCR3,CXCR3 EXON Silent,Missense_R339Q,Missense_R292Q exm1645465 X 70836684 [A/G] NR_001568,NM_001142797,NM_001504 BCYRN1,CXCR3,CXCR3 EXON Silent,Missense_T260M,Missense_T213M exm1645466 X 70836720 [A/G] NR_001568,NM_001142797,NM_001504 BCYRN1,CXCR3,CXCR3 EXON Silent,Missense_T248I,Missense_T201I exm1645489 X 70837390 [A/G] NR_001568,NM_001142797,NM_001504 BCYRN1,CXCR3,CXCR3 EXON Silent,Nonsense_Q25X,Silent exm2262848 X 71250218 [A/G] NM_001013627 NHSL2 Silent exm1645563 X 71349700 [T/C] NM_001013627,NM_001024455 NHSL2,RGAG4 EXON Silent,Missense_R564H exm1645571 X 71349791 [A/G] NM_001013627,NM_001024455 NHSL2,RGAG4 EXON Silent,Missense_R534C exm1645574 X 71349859 [T/C] NM_001013627,NM_001024455 NHSL2,RGAG4 EXON Silent,Missense_R511Q exm1645576 X 71349923 [G/C] NM_001013627,NM_001024455 NHSL2,RGAG4 EXON Silent,Missense_A490P exm1645583 X 71350133 [T/G] NM_001013627,NM_001024455 NHSL2,RGAG4 EXON Silent,Missense_S420R exm1645592 X 71350253 [T/C] NM_001013627,NM_001024455 NHSL2,RGAG4 EXON Silent,Missense_E380K exm1645593 X 71350294 [A/G] NM_001013627,NM_001024455 NHSL2,RGAG4 EXON Silent,Missense_M366T exm1645618 X 71351299 [T/C] NM_001013627,NM_001024455 NHSL2,RGAG4 EXON Silent,Missense_N31S exm1645630 X 71357028 [A/G] NM_001013627 NHSL2 EXON Missense_R282Q exm1645636 X 71358641 [C/G] NM_001013627 NHSL2 EXON Missense_G415R exm1645640 X 71358728 [A/G] NM_001013627 NHSL2 EXON Missense_A444T exm1645641 X 71358756 [A/G] NM_001013627 NHSL2 EXON Missense_G453E exm1645642 X 71358777 [A/G] NM_001013627 NHSL2 EXON Missense_R460H exm1645652 X 71358963 [A/G] NM_001013627 NHSL2 EXON Missense_C522Y exm1645654 X 71359031 [A/G] NM_001013627 NHSL2 EXON Missense_A545T exm1645655 X 71359104 [T/C] NM_001013627 NHSL2 EXON Missense_S569F exm1645662 X 71359310 [T/G] NM_001013627 NHSL2 EXON Missense_W638G exm1645666 X 71359496 [T/C] NM_001013627 NHSL2 EXON Missense_S700P exm1645677 X 71359817 [A/G] NM_001013627 NHSL2 EXON Missense_V807I exm1645679 X 71359892 [T/C] NM_001013627 NHSL2 EXON Missense_R832C exm1645684 X 71360009 [A/G] NM_001013627 NHSL2 EXON Missense_V871I exm1645688 X 71360100 [T/C] NM_001013627 NHSL2 EXON Missense_T901I exm1645690 X 71360132 [T/C] NM_001013627 NHSL2 EXON Missense_H912Y exm1645696 X 71360204 [A/G] NM_001013627 NHSL2 EXON Missense_R936G exm1645697 X 71360228 [A/C] NM_001013627 NHSL2 EXON Missense_P944T exm1645709 X 71360487 [A/G] NM_001013627 NHSL2 EXON Missense_R1030K exm1645715 X 71360608 [T/G] NM_001013627 NHSL2 EXON Missense_E1070D exm1645727 X 71379689 [A/G] NM_207422 FLJ44635 EXON Missense_V4I exm1645729 X 71379702 [T/C] NM_207422 FLJ44635 EXON Missense_I8T exm2214687 X 71379770 [A/G] NM_207422 FLJ44635 EXON Missense_G31R exm1645732 X 71379777 [A/G] NM_207422 FLJ44635 EXON Missense_R33H exm1645740 X 71401607 [A/G] NR_033187,NM_001170747,NM_006223 PIN4,PIN4,PIN4 EXON Silent,Missense_R16Q,Missense_R16Q exm1645741 X 71401614 [A/C] NR_033187,NM_001170747,NM_006223 PIN4,PIN4,PIN4 EXON Silent,Missense_S18R,Missense_S18R exm1645755 X 71416722 [T/G] NR_033187,NM_001170747,NM_006223 PIN4,PIN4,PIN4 EXON Silent,Missense_A94S,Missense_A94S exm1645764 X 71425000 [T/C] NM_001170747,NM_017669 PIN4,ERCC6L EXON Silent,Missense_R1206H exm1645768 X 71425175 [T/C] NM_001170747,NM_017669 PIN4,ERCC6L EXON Silent,Missense_G1148R exm1645773 X 71425235 [T/C] NM_001170747,NM_017669 PIN4,ERCC6L EXON Silent,Missense_E1128K exm1645778 X 71425454 [A/G] NM_001170747,NM_017669 PIN4,ERCC6L EXON Silent,Missense_S1055P exm1645790 X 71426098 [T/C] NM_001170747,NM_017669 PIN4,ERCC6L EXON Silent,Missense_N840S exm1645793 X 71426341 [T/C] NM_001170747,NM_017669 PIN4,ERCC6L EXON Silent,Missense_S759N exm1645794 X 71426731 [A/G] NM_001170747,NM_017669 PIN4,ERCC6L EXON Silent,Missense_T629I exm1645809 X 71427424 [T/C] NM_001170747,NM_017669 PIN4,ERCC6L EXON Silent,Missense_R398H exm1645811 X 71427427 [A/G] NM_001170747,NM_017669 PIN4,ERCC6L EXON Silent,Missense_T397M exm1645822 X 71428051 [T/C] NM_001170747,NM_017669 PIN4,ERCC6L EXON Silent,Missense_N189S exm1645833 X 71428348 [T/C] NM_001170747,NM_017669 PIN4,ERCC6L EXON Silent,Missense_R90Q exm1645836 X 71428409 [A/C] NM_001170747,NM_017669 PIN4,ERCC6L EXON Silent,Missense_L70V exm2264760 X 71459287 [A/C] NM_001170747 PIN4 Silent exm1645887 X 71522039 [T/C] NM_001144885,NM_001144887,NM_004143,NM_001144886 CITED1,CITED1,CITED1,CITED1 EXON Missense_R65H,Missense_R39H,Missense_R39H,Missense_R39H exm1645926 X 71801001 [T/C] NM_001172436,NM_002637,NM_001122670 PHKA1,PHKA1,PHKA1 EXON Missense_M1103V,Missense_M1175V,Missense_M1162V exm1645927 X 71801013 [T/C] NM_001172436,NM_002637,NM_001122670 PHKA1,PHKA1,PHKA1 EXON Missense_A1099T,Missense_A1171T,Missense_A1158T exm1645937 X 71813054 [T/C] NM_001172436,NM_002637,NM_001122670 PHKA1,PHKA1,PHKA1 EXON Missense_D976G,Missense_D1048G,Missense_D1035G exm1645957 X 71830921 [T/C] NM_001172436,NM_002637,NM_001122670 PHKA1,PHKA1,PHKA1 EXON Missense_Y769C,Missense_Y828C,Missense_Y828C exm1645958 X 71830942 [T/C] NM_001172436,NM_002637,NM_001122670 PHKA1,PHKA1,PHKA1 EXON Missense_R762H,Missense_R821H,Missense_R821H exm1645961 X 71838564 [T/C] NM_001172436,NM_002637,NM_001122670 PHKA1,PHKA1,PHKA1 EXON Missense_M730V,Missense_M789V,Missense_M789V exm1645966 X 71839113 [T/C] NM_001172436,NM_002637,NM_001122670 PHKA1,PHKA1,PHKA1 EXON Missense_R668Q,Missense_R727Q,Missense_R727Q exm1645967 X 71839114 [A/G] NM_001172436,NM_002637,NM_001122670 PHKA1,PHKA1,PHKA1 EXON Missense_R668W,Missense_R727W,Missense_R727W exm1645971 X 71840649 [T/C] NM_001172436,NM_002637,NM_001122670 PHKA1,PHKA1,PHKA1 EXON Silent,Missense_R688Q,Missense_R688Q exm2268596 X 71867586 [A/G] NM_001172436,NM_002637,NM_001122670 PHKA1,PHKA1,PHKA1 Silent,Silent,Silent exm1645990 X 71872498 [T/C] NM_001172436,NM_002637,NM_001122670 PHKA1,PHKA1,PHKA1 EXON Missense_D381N,Missense_D381N,Missense_D381N exm1646000 X 71886122 [T/C] NM_001172436,NM_002637,NM_001122670 PHKA1,PHKA1,PHKA1 EXON Missense_R248H,Missense_R248H,Missense_R248H exm1646003 X 71904349 [A/G] NM_001172436,NM_002637,NM_001122670 PHKA1,PHKA1,PHKA1 EXON Missense_A179V,Missense_A179V,Missense_A179V exm2214811 X 72432966 [T/C] NM_021963 NAP1L2 EXON Missense_V455I exm1646057 X 72433167 [A/C] NM_021963 NAP1L2 EXON Missense_D388Y exm1646066 X 72433747 [T/A] NM_021963 NAP1L2 EXON Missense_H194Q exm1646072 X 72433788 [A/G] NM_021963 NAP1L2 EXON Missense_C181R exm1646073 X 72433821 [A/G] NM_021963 NAP1L2 EXON Missense_S170P exm2268597 X 72638450 [A/G] exm1646095 X 72667289 [A/C] NM_005193 CDX4 EXON Missense_P67Q exm1646097 X 72667328 [A/G] NM_005193 CDX4 EXON Missense_R80Q exm2214830 X 72667402 [A/C] NM_005193 CDX4 EXON Missense_P105T exm1646114 X 72674305 [T/C] NM_005193 CDX4 EXON Nonsense_Q247X exm2214834 X 72674362 [T/C] NM_005193 CDX4 EXON Missense_P266S exm1646115 X 72674375 [A/G] NM_005193 CDX4 EXON Missense_R270H exm2273142 X 72899365 [T/C] NM_001039840 CHIC1 Silent exm1646527 X 73524193 [C/G] NM_203303 ZCCHC13 EXON Missense_G31A exm1646529 X 73524204 [A/G] NM_203303 ZCCHC13 EXON Missense_G35S exm1646533 X 73524361 [C/G] NM_203303 ZCCHC13 EXON Missense_R87T exm1646540 X 73524526 [A/G] NM_203303 ZCCHC13 EXON Missense_N142S exm1646547 X 73641323 [A/G] exm1646553 X 73641569 [T/C] NM_006517 SLC16A2 EXON Missense_S33P exm1646561 X 73641884 [G/C] NM_006517 SLC16A2 EXON Missense_Q138E exm1646569 X 73744294 [T/C] NM_006517 SLC16A2 EXON Missense_R226C exm1646571 X 73744343 [A/T] NM_006517 SLC16A2 EXON Missense_F242Y exm1646576 X 73744567 [T/C] NM_006517 SLC16A2 EXON Missense_R317C exm1646577 X 73745675 [A/G] NM_006517 SLC16A2 EXON Missense_V373M exm2273267 X 73749319 [T/G] NM_006517 SLC16A2 Silent exm1646647 X 73960125 [A/G] NM_001008537 KIAA2022 EXON Missense_R1423C exm1646650 X 73960146 [A/G] NM_001008537 KIAA2022 EXON Missense_P1416S exm1646652 X 73960187 [T/C] NM_001008537 KIAA2022 EXON Missense_N1402S exm1646655 X 73960344 [T/C] NM_001008537 KIAA2022 EXON Missense_D1350N exm1646658 X 73960569 [T/C] NM_001008537 KIAA2022 EXON Missense_S1275G exm1646659 X 73960580 [A/G] NM_001008537 KIAA2022 EXON Missense_M1271T exm1646669 X 73960990 [T/G] NM_001008537 KIAA2022 EXON Missense_H1134Q exm1646679 X 73961591 [T/C] NM_001008537 KIAA2022 EXON Missense_N934S exm1646691 X 73962077 [T/C] NM_001008537 KIAA2022 EXON Missense_R772H exm1646698 X 73962294 [C/G] NM_001008537 KIAA2022 EXON Missense_V700L exm1646711 X 73963094 [A/G] NM_001008537 KIAA2022 EXON Missense_L433P exm1646728 X 73964045 [T/C] NM_001008537 KIAA2022 EXON Missense_N116S exm1646736 X 73964241 [T/G] NM_001008537 KIAA2022 EXON Missense_P51T exm1646737 X 73964259 [T/C] NM_001008537 KIAA2022 EXON Missense_A45T exm2262852 X 74267259 [T/C] exm1646748 X 74284934 [T/C] NM_004299,NM_001271697,NM_001271699,NM_001271696,NM_001271698 ABCB7,ABCB7,ABCB7,ABCB7,ABCB7 EXON Missense_Q602R,Missense_Q561R,Missense_Q562R,Missense_Q601R,Missense_Q575R exm1646751 X 74284997 [A/G] NM_004299,NM_001271697,NM_001271699,NM_001271696,NM_001271698 ABCB7,ABCB7,ABCB7,ABCB7,ABCB7 EXON Missense_A581V,Missense_A540V,Missense_A541V,Missense_A580V,Missense_A554V exm1646756 X 74289163 [T/C] NM_004299,NM_001271697,NM_001271699,NM_001271696,NM_001271698 ABCB7,ABCB7,ABCB7,ABCB7,ABCB7 EXON Missense_G499R,Missense_G458R,Missense_G459R,Missense_G498R,Missense_G472R exm1646765 X 74291377 [T/C] NM_004299,NM_001271697,NM_001271699,NM_001271696,NM_001271698 ABCB7,ABCB7,ABCB7,ABCB7,ABCB7 EXON Missense_I393V,Missense_I352V,Missense_I353V,Missense_I392V,Missense_I366V exm1646769 X 74293709 [T/C] NM_004299,NM_001271697,NM_001271699,NM_001271696,NM_001271698 ABCB7,ABCB7,ABCB7,ABCB7,ABCB7 EXON Missense_R314Q,Missense_R273Q,Missense_R274Q,Missense_R313Q,Missense_R287Q exm1646775 X 74318820 [T/C] NM_004299,NM_001271697,NM_001271699,NM_001271696,NM_001271698 ABCB7,ABCB7,ABCB7,ABCB7,ABCB7 EXON Missense_R138Q,Silent,Silent,Missense_R137Q,Missense_R111Q exm1646776 X 74318869 [T/C] NM_004299,NM_001271697,NM_001271699,NM_001271696,NM_001271698 ABCB7,ABCB7,ABCB7,ABCB7,ABCB7 EXON Missense_I122V,Silent,Silent,Missense_I121V,Missense_I95V exm1646779 X 74334588 [T/C] NM_004299,NM_001271697,NM_001271699,NM_001271696,NM_001271698 ABCB7,ABCB7,ABCB7,ABCB7,ABCB7 Silent,Silent,Silent,Silent,Silent exm1646781 X 74334624 [T/C] NM_004299,NM_001271697,NM_001271699,NM_001271696,NM_001271698 ABCB7,ABCB7,ABCB7,ABCB7,ABCB7 EXON Missense_K72E,Missense_K71E,Missense_K72E,Missense_K71E,Silent exm1646782 X 74334634 [C/G] NM_004299,NM_001271697,NM_001271699,NM_001271696,NM_001271698 ABCB7,ABCB7,ABCB7,ABCB7,ABCB7 EXON Missense_Q68H,Missense_Q67H,Missense_Q68H,Missense_Q67H,Silent exm1646793 X 74494207 [A/G] NM_145052,NR_030774 UPRT,UPRT EXON Missense_G40R,Silent exm1646794 X 74494304 [T/C] NM_145052,NR_030774 UPRT,UPRT EXON Missense_S72F,Silent exm1646810 X 74598997 [A/G] NM_001146256,NM_144969 ZDHHC15,ZDHHC15 EXON Missense_T326M,Missense_T335M exm1646824 X 74648935 [T/C] NM_001146256,NM_144969 ZDHHC15,ZDHHC15 EXON Missense_S185N,Missense_S194N exm2248926 X 74648947 [A/G] NM_001146256,NM_144969 ZDHHC15,ZDHHC15 EXON Missense_T181M,Missense_T190M exm1646829 X 74651290 [A/C] NM_001146256,NM_144969 ZDHHC15,ZDHHC15 EXON Missense_A140S,Missense_A149S exm1646831 X 74651346 [T/A] NM_001146256,NM_144969 ZDHHC15,ZDHHC15 EXON Missense_F121Y,Missense_F130Y exm1646852 X 75003544 [T/C] NM_138703 MAGEE2 EXON Missense_R448H exm1646854 X 75003562 [T/C] NM_138703 MAGEE2 EXON Missense_R442H exm1646860 X 75003698 [T/C] NM_138703 MAGEE2 EXON Missense_G397R exm1646861 X 75003725 [T/C] NM_138703 MAGEE2 EXON Missense_E388K exm1646868 X 75003866 [T/C] NM_138703 MAGEE2 EXON Missense_T341A exm1646869 X 75003900 [T/C] NM_138703 MAGEE2 EXON Missense_M329I exm1646873 X 75004016 [A/C] NM_138703 MAGEE2 EXON Missense_G291C exm1646874 X 75004094 [T/C] NM_138703 MAGEE2 EXON Missense_E265K exm1646876 X 75004102 [A/G] NM_138703 MAGEE2 EXON Missense_T262I exm1646892 X 75004379 [T/C] NM_138703 MAGEE2 EXON Missense_E170K exm1646894 X 75004381 [A/G] NM_138703 MAGEE2 EXON Missense_A169V exm1646902 X 75004567 [T/C] NM_138703 MAGEE2 EXON Missense_G107E exm2215008 X 75004649 [T/C] NM_138703 MAGEE2 EXON Missense_G80R exm1646909 X 75004693 [C/G] NM_138703 MAGEE2 EXON Missense_P65R exm1646915 X 75004754 [T/G] NM_138703 MAGEE2 EXON Missense_Q45K exm1646916 X 75004766 [T/C] NM_138703 MAGEE2 EXON Missense_V41I exm1646917 X 75004768 [A/G] NM_138703 MAGEE2 EXON Missense_V40A exm-rs5937496 X 75347434 [A/G] exm2248927 X 75393454 [T/G] NM_016500 PBDC1 EXON Missense_L22R exm2268598 X 75405895 [A/G] exm1646954 X 75648697 [A/G] NM_020932 MAGEE1 EXON Missense_C125Y exm2277444 X 75648859 [T/C] NM_020932 MAGEE1 EXON Missense_T179I exm1646971 X 75648948 [A/G] NM_020932 MAGEE1 EXON Missense_G209S exm1647007 X 75649404 [A/G] NM_020932 MAGEE1 EXON Missense_G361S exm1647011 X 75649731 [A/T] NM_020932 MAGEE1 EXON Missense_S470T exm2215036 X 75649744 [T/C] NM_020932 MAGEE1 EXON Missense_M474T exm1647013 X 75649783 [T/C] NM_020932 MAGEE1 EXON Missense_P487L exm1647017 X 75650017 [A/G] NM_020932 MAGEE1 EXON Missense_G565E exm2273269 X 76231844 [T/G] exm1647105 X 76937107 [A/T] NM_000489,NM_138270 ATRX,ATRX EXON Missense_N1214I,Missense_N1176I exm1647115 X 76937467 [T/C] NM_000489,NM_138270 ATRX,ATRX EXON Missense_C1094Y,Missense_C1056Y exm1647128 X 76937825 [T/C] NM_000489,NM_138270 ATRX,ATRX EXON Missense_D975N,Missense_D937N exm2215088 X 76937942 [C/G] NM_000489,NM_138270 ATRX,ATRX EXON Missense_V936L,Missense_V898L exm1647131 X 76937963 [C/G] NM_000489,NM_138270 ATRX,ATRX EXON Missense_Q929E,Missense_Q891E exm1647135 X 76938028 [T/C] NM_000489,NM_138270 ATRX,ATRX EXON Missense_R907Q,Missense_R869Q exm1647141 X 76938153 [C/G] NM_000489,NM_138270 ATRX,ATRX EXON Missense_H865Q,Missense_H827Q exm2248930 X 76938208 [A/G] NM_000489,NM_138270 ATRX,ATRX EXON Missense_F847S,Missense_F809S exm1647150 X 76938579 [G/C] NM_000489,NM_138270 ATRX,ATRX EXON Missense_E723D,Missense_E685D exm1647159 X 76938880 [T/C] NM_000489,NM_138270 ATRX,ATRX EXON Missense_K623R,Missense_K585R exm2215098 X 76938923 [G/C] NM_000489,NM_138270 ATRX,ATRX EXON Missense_P609A,Missense_P571A exm1647160 X 76939100 [T/C] NM_000489,NM_138270 ATRX,ATRX EXON Missense_S550G,Missense_S512G exm1647162 X 76939115 [G/C] NM_000489,NM_138270 ATRX,ATRX EXON Missense_Q545E,Missense_Q507E exm1647170 X 76939325 [C/G] NM_000489,NM_138270 ATRX,ATRX EXON Missense_H475D,Missense_H437D exm1647180 X 76939715 [T/C] NM_000489,NM_138270 ATRX,ATRX EXON Missense_A345T,Missense_A307T exm2273146 X 77025121 [T/G] NM_000489,NM_138270 ATRX,ATRX Silent,Silent exm1647205 X 77086362 [A/C] NM_032121 MAGT1 EXON Missense_V343G exm1647214 X 77112874 [T/C] NM_032121 MAGT1 EXON Missense_A203T exm1647221 X 77150891 [C/G] NM_032121 MAGT1 EXON Missense_R38P exm1647222 X 77150892 [A/G] NM_032121 MAGT1 EXON Missense_R38W exm2215125 X 77150894 [G/C] NM_032121 MAGT1 EXON Missense_W37S exm1647224 X 77150937 [T/C] NM_032121 MAGT1 EXON Missense_V23I exm1647226 X 77158147 [A/C] NM_001866 COX7B EXON Missense_S16R exm1647264 X 77244108 [A/G] NM_000052 ATP7A EXON Missense_S164N exm2248934 X 77244137 [A/C] NM_000052 ATP7A EXON Missense_K174Q exm1647265 X 77244182 [A/G] NM_000052 ATP7A EXON Missense_I189V exm1647270 X 77244998 [T/A] NM_000052 ATP7A EXON Missense_N294Y exm1647272 X 77245127 [A/G] NM_000052 ATP7A EXON Missense_A337T exm1647283 X 77254023 [T/C] NM_000052 ATP7A EXON Missense_P462L exm1647285 X 77254154 [A/G] NM_000052 ATP7A EXON Missense_I506V exm1647291 X 77264659 [A/G] NM_000052 ATP7A EXON Missense_R590G exm1647292 X 77264714 [A/G] NM_000052 ATP7A EXON Missense_Y608C exm1647295 X 77266954 [A/G] NM_000052 ATP7A EXON Missense_R652Q exm1647300 X 77268502 [C/G] NM_000052 ATP7A EXON Missense_V767L exm1647302 X 77270204 [A/G] NM_000052 ATP7A EXON Missense_T818A exm1647312 X 77276563 [A/G] NM_000052 ATP7A EXON Missense_E968G exm1647319 X 77289257 [T/C] NM_000052 ATP7A EXON Missense_I1150T exm1647321 X 77289283 [A/G] NM_000052 ATP7A EXON Missense_T1159A exm2273270 X 77290731 [T/C] NM_000052 ATP7A Silent exm1647334 X 77298212 [A/G] NM_000052 ATP7A EXON Missense_M1311V exm1647336 X 77298815 [A/G] NM_000052 ATP7A EXON Missense_N1336D exm1647339 X 77301044 [G/C] NM_000052 ATP7A EXON Missense_V1401L exm2215182 X 77301831 [A/C] NM_000052 ATP7A EXON Synonymous_R1423R exm1647347 X 77301928 [A/G] NM_000052 ATP7A EXON Missense_R1455Q exm2215183 X 77301954 [A/G] NM_000052 ATP7A EXON Missense_I1464V exm1647358 X 77369365 [T/G] NM_000291 PGK1 EXON Missense_V81F exm1647361 X 77369596 [T/C] NM_000291 PGK1 EXON Missense_L119P exm1647366 X 77373548 [T/C] NM_000291 PGK1 EXON Synonymous_S174S exm1647373 X 77378696 [C/G] NM_000291 PGK1 EXON Missense_G254A exm1647379 X 77380482 [T/C] NM_000291 PGK1 EXON Missense_R350W exm1647384 X 77387192 [T/C] NM_015975 TAF9B EXON Missense_N224S exm1647400 X 77393548 [T/C] NM_015975 TAF9B EXON Missense_A61T exm1647402 X 77394367 [T/C] NM_015975 TAF9B EXON Missense_I36V exm1647403 X 77395063 [A/C] NM_015975 TAF9B EXON Missense_A16S exm1647410 X 77528271 [T/C] NM_006639 CYSLTR1 EXON Missense_A325T exm1647415 X 77528510 [C/G] NM_006639 CYSLTR1 EXON Missense_S245T exm1647427 X 77528789 [A/T] NM_006639 CYSLTR1 EXON Missense_I152N exm1647429 X 77528876 [A/G] NM_006639 CYSLTR1 EXON Missense_I123T exm1647448 X 77912606 [A/G] NM_152694 ZCCHC5 EXON Missense_R438C exm2248937 X 77912711 [T/C] NM_152694 ZCCHC5 EXON Missense_K403E exm1647454 X 77912731 [A/G] NM_152694 ZCCHC5 EXON Missense_P396L exm1647461 X 77913141 [T/A] NM_152694 ZCCHC5 EXON Nonsense_Y259X exm1647463 X 77913196 [C/G] NM_152694 ZCCHC5 EXON Missense_T241S exm2248938 X 77913307 [A/G] NM_152694 ZCCHC5 EXON Missense_S204L exm1647472 X 77913396 [A/C] NM_152694 ZCCHC5 EXON Missense_Q174H exm1647473 X 77913414 [G/C] NM_152694 ZCCHC5 EXON Missense_Q168H exm1647476 X 77913494 [T/C] NM_152694 ZCCHC5 EXON Missense_A142T exm1647478 X 77913557 [A/G] NM_152694 ZCCHC5 EXON Missense_R121W exm1647479 X 77913569 [A/G] NM_152694 ZCCHC5 EXON Missense_P117S exm1647484 X 77913622 [A/G] NM_152694 ZCCHC5 EXON Missense_P99L exm1647487 X 77913652 [T/G] NM_152694 ZCCHC5 EXON Missense_P89Q exm2215225 X 77913761 [A/G] NM_152694 ZCCHC5 EXON Nonsense_R53X exm1647497 X 78010499 [A/G] NM_005296 LPAR4 EXON Missense_V45I exm1647499 X 78010526 [A/C] NM_005296 LPAR4 EXON Missense_L54M exm1647500 X 78010566 [A/G] NM_005296 LPAR4 EXON Missense_R67H exm1647506 X 78010920 [A/C] NM_005296 LPAR4 EXON Missense_T185N exm1647516 X 78216024 [A/C] NM_014499,NM_198333 P2RY10,P2RY10 EXON Missense_N3H,Missense_N3H exm2268504 X 78305516 [A/G] exm1647537 X 78426767 [A/C] NM_032553 GPR174 EXON Missense_P88H exm1647545 X 78426988 [T/C] NM_032553 GPR174 EXON Missense_S162P exm1647550 X 78427129 [T/G] NM_032553 GPR174 EXON Missense_V209F exm2268505 X 78477567 [A/G] exm1647573 X 78618509 [A/G] NM_001171581,NM_004867 ITM2A,ITM2A EXON Missense_A80V,Missense_A124V exm1647576 X 78618630 [T/C] NM_001171581,NM_004867 ITM2A,ITM2A EXON Missense_I40V,Missense_I84V exm1647577 X 78618948 [A/G] NM_001171581,NM_004867 ITM2A,ITM2A EXON Silent,Missense_A72V exm-rs1474563 X 78649193 [T/C] exm2273271 X 78944731 [T/G] exm1647611 X 79281202 [A/G] NM_001109878,NM_001109879,NM_016954 TBX22,TBX22,TBX22 EXON Missense_E187K,Missense_E67K,Missense_E187K exm2215310 X 79286216 [A/C] NM_001109878,NM_001109879,NM_016954 TBX22,TBX22,TBX22 EXON Missense_A390D,Missense_A270D,Missense_A390D exm1647639 X 79286591 [A/C] NM_001109878,NM_001109879,NM_016954 TBX22,TBX22,TBX22 EXON Missense_A515E,Missense_A395E,Missense_A515E exm2273272 X 79342439 [T/C] exm2268506 X 79365614 [A/G] exm1647643 X 79698171 [T/C] NM_001170574,NM_152630 FAM46D,FAM46D EXON Missense_H45Y,Missense_H45Y exm1647651 X 79698316 [A/G] NM_001170574,NM_152630 FAM46D,FAM46D EXON Missense_G93D,Missense_G93D exm1647652 X 79698321 [A/G] NM_001170574,NM_152630 FAM46D,FAM46D EXON Missense_E95K,Missense_E95K exm1647653 X 79698369 [T/C] NM_001170574,NM_152630 FAM46D,FAM46D EXON Missense_F111L,Missense_F111L exm1647665 X 79698593 [G/C] NM_001170574,NM_152630 FAM46D,FAM46D EXON Missense_D185E,Missense_D185E exm1647666 X 79698615 [A/G] NM_001170574,NM_152630 FAM46D,FAM46D EXON Missense_K193E,Missense_K193E exm1647668 X 79698634 [A/G] NM_001170574,NM_152630 FAM46D,FAM46D EXON Missense_Y199C,Missense_Y199C exm1647688 X 79932220 [A/T] NM_153252 BRWD3 EXON Missense_D1766V exm1647700 X 79932439 [A/C] NM_153252 BRWD3 EXON Missense_G1693V exm1647717 X 79942492 [T/C] NM_153252 BRWD3 EXON Missense_R1292Q exm1647719 X 79943569 [T/C] NM_153252 BRWD3 EXON Missense_K1288R exm2215323 X 79945587 [A/T] NM_153252 BRWD3 EXON Missense_I1203L exm1647739 X 79959085 [C/G] NM_153252 BRWD3 EXON Missense_G910A exm1647740 X 79962936 [T/C] NM_153252 BRWD3 EXON Missense_S848G exm1647753 X 79973154 [A/G] NM_153252 BRWD3 EXON Missense_R717W exm2248947 X 79973177 [G/C] NM_153252 BRWD3 EXON Missense_R709T exm1647755 X 79975020 [A/G] NM_153252 BRWD3 EXON Missense_L671S exm1647768 X 79990696 [T/C] NM_153252 BRWD3 EXON Synonymous_R305R exm1647770 X 79999575 [T/C] NM_153252 BRWD3 EXON Missense_V257I exm2273149 X 80058167 [T/C] NM_153252 BRWD3 Silent exm1647783 X 80064802 [T/C] NM_153252 BRWD3 EXON Synonymous_E11E exm2268600 X 80201432 [A/G] exm1647807 X 80370502 [C/G] NM_030763 HMGN5 EXON Missense_E165D exm1647832 X 80373981 [A/G] NM_030763 HMGN5 EXON Missense_L27F exm1647837 X 80375309 [A/C] NM_030763 HMGN5 EXON Missense_G8V exm1647843 X 80532616 [T/C] NM_003022 SH3BGRL EXON Missense_A60V exm1647845 X 80532649 [A/G] NM_003022 SH3BGRL EXON Missense_N71S exm1647847 X 80532668 [A/G] NM_003022 SH3BGRL EXON Synonymous_G77G exm2273273 X 81181269 [T/C] exm2273152 X 81512091 [T/C] exm2268601 X 81697926 [A/G] exm2268507 X 82256007 [A/G] exm2268602 X 82551290 [A/G] exm2273153 X 82562274 [T/C] exm1647853 X 82763471 [T/C] NM_000307 POU3F4 EXON Missense_P47S exm1647875 X 83116204 [C/G] NM_001271680,NM_021118 CYLC1,CYLC1 EXON Missense_R5T,Missense_R5T exm1647881 X 83126543 [A/C] NM_001271680,NM_021118 CYLC1,CYLC1 EXON Missense_K47Q,Missense_K48Q exm1647888 X 83128103 [A/C] NM_001271680,NM_021118 CYLC1,CYLC1 EXON Silent,Missense_K129N exm1647891 X 83128179 [G/C] NM_001271680,NM_021118 CYLC1,CYLC1 EXON Silent,Missense_Q155E exm1647892 X 83128216 [A/G] NM_001271680,NM_021118 CYLC1,CYLC1 EXON Silent,Missense_H167R exm2215419 X 83128413 [T/C] NM_001271680,NM_021118 CYLC1,CYLC1 EXON Silent,Missense_P233S exm1647900 X 83128470 [A/G] NM_001271680,NM_021118 CYLC1,CYLC1 EXON Silent,Missense_G252R exm1647907 X 83128603 [G/C] NM_001271680,NM_021118 CYLC1,CYLC1 EXON Silent,Missense_S296C exm1647921 X 83128863 [T/G] NM_001271680,NM_021118 CYLC1,CYLC1 EXON Silent,Missense_D383Y exm1647923 X 83128911 [G/C] NM_001271680,NM_021118 CYLC1,CYLC1 EXON Silent,Missense_D399H exm1647926 X 83129021 [T/G] NM_001271680,NM_021118 CYLC1,CYLC1 EXON Silent,Missense_K435N exm1647932 X 83129093 [T/G] NM_001271680,NM_021118 CYLC1,CYLC1 EXON Silent,Missense_K459N exm1647933 X 83129118 [T/G] NM_001271680,NM_021118 CYLC1,CYLC1 EXON Silent,Missense_S468A exm1647934 X 83129189 [T/G] NM_001271680,NM_021118 CYLC1,CYLC1 EXON Silent,Missense_E491D exm1647935 X 83129191 [T/C] NM_001271680,NM_021118 CYLC1,CYLC1 EXON Silent,Missense_L492S exm1647946 X 83141579 [A/G] NM_001271680,NM_021118 CYLC1,CYLC1 EXON Missense_H65R,Missense_H648R exm2273274 X 83274784 [T/C] exm1647947 X 83319304 [T/C] NM_014496 RPS6KA6 EXON Missense_R740Q exm1647949 X 83319404 [T/C] NM_014496 RPS6KA6 EXON Missense_M707V exm1647950 X 83320017 [T/C] NM_014496 RPS6KA6 EXON Missense_D692N exm1647955 X 83351267 [A/G] NM_014496 RPS6KA6 EXON Missense_R636C exm1647964 X 83359552 [T/C] NM_014496 RPS6KA6 EXON Missense_I523M exm1647998 X 83442871 [A/G] NM_014496 RPS6KA6 EXON Nonsense_R13X exm1648020 X 83591879 [T/C] NM_001177478,NM_144657,NM_001177479 HDX,HDX,HDX EXON Missense_N499S,Missense_N557S,Missense_N557S exm1648035 X 83723541 [A/G] NM_001177478,NM_144657,NM_001177479 HDX,HDX,HDX EXON Missense_F339S,Missense_F397S,Missense_F397S exm1648049 X 83724154 [T/C] NM_001177478,NM_144657,NM_001177479 HDX,HDX,HDX EXON Missense_A135T,Missense_A193T,Missense_A193T exm1648057 X 83724375 [T/C] NM_001177478,NM_144657,NM_001177479 HDX,HDX,HDX EXON Missense_R61K,Missense_R119K,Missense_R119K exm1648061 X 83724465 [A/G] NM_001177478,NM_144657,NM_001177479 HDX,HDX,HDX EXON Missense_A31V,Missense_A89V,Missense_A89V exm2273154 X 83808253 [T/G] exm2263159 X 83991290 [A/G] exm2264785 X 84145533 [A/C] exm1648089 X 84322210 [A/G] NM_198450 APOOL EXON Missense_V158I exm1648093 X 84329101 [G/C] NM_198450 APOOL EXON Missense_P195R exm1648095 X 84329299 [T/C] NM_198450 APOOL EXON Missense_I207T exm1648102 X 84349207 [C/G] NM_001012980 SATL1 EXON Nonsense_Y601X exm1648111 X 84358886 [T/C] NM_001012980 SATL1 EXON Missense_M559I exm1648118 X 84362401 [T/C] NM_001012980 SATL1 EXON Missense_S525N exm1648128 X 84362561 [T/A] NM_001012980 SATL1 EXON Missense_S472C exm1648129 X 84362567 [T/C] NM_001012980 SATL1 EXON Missense_G470S exm1648131 X 84362650 [T/C] NM_001012980 SATL1 EXON Nonsense_W442X exm1648141 X 84362923 [A/G] NM_001012980 SATL1 EXON Missense_P351L exm1648150 X 84363140 [A/G] NM_001012980 SATL1 EXON Missense_W279R exm1648152 X 84363164 [T/C] NM_001012980 SATL1 EXON Missense_M271V exm1648156 X 84363336 [T/C] NM_001012980 SATL1 EXON Missense_M213I exm1648159 X 84363380 [A/G] NM_001012980 SATL1 EXON Nonsense_Q199X exm1648171 X 84363716 [G/C] NM_001012980 SATL1 EXON Missense_P87A exm1648193 X 84510764 [T/G] NM_021998 ZNF711 EXON Missense_D193E exm1648201 X 84520174 [A/G] NM_021998 ZNF711 EXON Missense_A277T exm1648240 X 84560861 [T/C] NM_024921 POF1B EXON Missense_N458S exm1648243 X 84561204 [T/G] NM_024921 POF1B EXON Missense_Q434K exm1648250 X 84563135 [T/A] NM_024921 POF1B EXON Missense_M349L exm1648251 X 84563165 [A/G] NM_024921 POF1B EXON Missense_R339W exm1648252 X 84563194 [T/C] NM_024921 POF1B EXON Missense_R329Q exm1648254 X 84563220 [T/C] NM_024921 POF1B EXON Missense_M320I exm1648255 X 84569452 [A/G] NM_024921 POF1B EXON Missense_R315C exm1648258 X 84569502 [A/G] NM_024921 POF1B EXON Missense_I298T exm1648268 X 84600873 [G/C] NM_024921 POF1B EXON Missense_C239S exm1648270 X 84600948 [T/C] NM_024921 POF1B EXON Missense_Q214R exm1648271 X 84600970 [A/G] NM_024921 POF1B EXON Missense_P207S exm1648274 X 84606397 [A/C] NM_024921 POF1B EXON Nonsense_E167X exm2262865 X 84612645 [T/C] NM_024921 POF1B Silent exm2248954 X 84622743 [G/C] NM_024921 POF1B EXON Missense_S104C exm1648279 X 84634269 [T/C] NM_024921 POF1B EXON Missense_Q64R exm2264762 X 84694918 [A/C] exm2268509 X 85064848 [A/G] exm1648325 X 85211224 [T/C] NM_000390 CHM EXON Missense_R367Q exm1648346 X 85233774 [G/C] NM_000390,NM_001145414 CHM,CHM EXON Missense_A104G,Missense_A104G exm1648348 X 85233847 [A/G] NM_000390,NM_001145414 CHM,CHM EXON Missense_L80F,Missense_L80F exm1648372 X 85403731 [T/C] NM_053281,NM_001139514 DACH2,DACH2 EXON Missense_P36L,Missense_P36L exm1648377 X 85403800 [A/G] NM_053281,NM_001139514 DACH2,DACH2 EXON Missense_G59D,Missense_G59D exm1648381 X 85404021 [A/G] NM_053281,NM_001139514 DACH2,DACH2 EXON Missense_G133R,Missense_G133R exm2273155 X 85641897 [T/C] NM_053281,NM_001139514,NM_001139515 DACH2,DACH2,DACH2 Silent,Silent,Silent exm2264786 X 85688684 [A/C] NM_053281,NM_001139514,NM_001139515 DACH2,DACH2,DACH2 Silent,Silent,Silent exm1648387 X 85906054 [T/C] NM_053281,NM_001139514,NM_001139515 DACH2,DACH2,DACH2 EXON Missense_A219V,Missense_A206V,Missense_A52V exm2215606 X 85969688 [A/T] NM_053281,NM_001139514,NM_001139515 DACH2,DACH2,DACH2 EXON Missense_S357C,Missense_S344C,Missense_S190C exm1648399 X 85969710 [T/C] NM_053281,NM_001139514,NM_001139515 DACH2,DACH2,DACH2 EXON Missense_T364I,Missense_T351I,Missense_T197I exm2273156 X 86009589 [T/C] NM_053281,NM_001139514,NM_001139515 DACH2,DACH2,DACH2 Silent,Silent,Silent exm1648406 X 86067863 [C/G] NM_053281,NM_001139514,NM_001139515 DACH2,DACH2,DACH2 EXON Missense_E415D,Missense_E402D,Missense_E248D exm1648412 X 86069706 [A/G] NM_053281,NM_001139514,NM_001139515 DACH2,DACH2,DACH2 EXON Missense_R518H,Missense_R505H,Missense_R351H exm1648416 X 86069787 [A/G] NM_053281,NM_001139514,NM_001139515 DACH2,DACH2,DACH2 EXON Missense_Q545R,Missense_Q532R,Missense_Q378R exm1648419 X 86069833 [A/C] NM_053281,NM_001139514,NM_001139515 DACH2,DACH2,DACH2 EXON Missense_L560F,Missense_L547F,Missense_L393F exm1648424 X 86071084 [T/G] NM_053281,NM_001139514,NM_001139515 DACH2,DACH2,DACH2 EXON Missense_D578Y,Missense_D565Y,Missense_D411Y exm-rs2710057 X 86192003 [T/G] exm2264763 X 86580694 [A/C] exm1648432 X 86773018 [A/G] NM_057162,NM_019117 KLHL4,KLHL4 EXON Missense_Y41C,Missense_Y41C exm1648437 X 86773110 [A/G] NM_057162,NM_019117 KLHL4,KLHL4 EXON Missense_N72D,Missense_N72D exm2273157 X 86830845 [T/C] NM_057162,NM_019117 KLHL4,KLHL4 Silent,Silent exm1648477 X 86890718 [C/G] NM_057162,NM_019117 KLHL4,KLHL4 EXON Missense_G623A,Missense_G623A exm2273276 X 86911016 [T/C] NM_057162,NM_019117 KLHL4,KLHL4 Silent,Silent exm-rs12012519 X 87190349 [T/C] exm2262870 X 87376702 [A/G] exm2273158 X 87497757 [T/C] exm2273159 X 87812536 [T/C] exm1648492 X 88008423 [A/C] NM_001184771,NM_033048 CPXCR1,CPXCR1 EXON Missense_Y3S,Missense_Y3S exm1648502 X 88008720 [A/C] NM_001184771,NM_033048 CPXCR1,CPXCR1 EXON Missense_S102Y,Missense_S102Y exm1648504 X 88008785 [A/T] NM_001184771,NM_033048 CPXCR1,CPXCR1 EXON Missense_F124I,Missense_F124I exm1648507 X 88008807 [A/G] NM_001184771,NM_033048 CPXCR1,CPXCR1 EXON Missense_R131H,Missense_R131H exm1648512 X 88009032 [A/G] NM_001184771,NM_033048 CPXCR1,CPXCR1 EXON Missense_R206H,Missense_R206H exm1648513 X 88009104 [A/G] NM_001184771,NM_033048 CPXCR1,CPXCR1 EXON Missense_R230H,Missense_R230H exm1648516 X 88009170 [G/C] NM_001184771,NM_033048 CPXCR1,CPXCR1 EXON Missense_G252A,Missense_G252A exm1648517 X 88009203 [T/C] NM_001184771,NM_033048 CPXCR1,CPXCR1 EXON Missense_M263T,Missense_M263T exm1648519 X 88009247 [T/C] NM_001184771,NM_033048 CPXCR1,CPXCR1 EXON Missense_C278R,Missense_C278R exm2268604 X 88260812 [A/G] exm2268510 X 88383981 [A/G] exm2273277 X 88889091 [T/G] exm2263170 X 89104765 [T/G] exm1648538 X 89177673 [A/G] NM_138960 TGIF2LX EXON Missense_V197I exm-rs5941436 X 89288227 [A/C] exm2273161 X 89378602 [T/C] exm2273278 X 89712929 [T/C] exm2273163 X 90320741 [T/C] exm2264787 X 90391258 [A/C] exm-rs525869 X 90596159 [T/C] exm1648550 X 90690811 [A/G] NM_080832 PABPC5 EXON Missense_M79V exm1648554 X 90690899 [T/C] NM_080832 PABPC5 EXON Missense_I108T exm2263174 X 90771676 [A/G] exm2248962 X 91133907 [T/G] NM_032967,NM_014522,NM_032969,NM_032968,NM_001168362,NM_001168361,NM_001168363,NM_001168360 PCDH11X,PCDH11X,PCDH11X,PCDH11X,PCDH11X,PCDH11X,PCDH11X,PCDH11X EXON Nonsense_E890X,Nonsense_E890X,Nonsense_E890X,Nonsense_E890X,Nonsense_E890X,Nonsense_E890X,Nonsense_E890X,Nonsense_E890X exm-rs2573905 X 91402220 [T/C] NM_032969,NM_032968,NM_001168362,NM_001168361,NM_001168363,NM_001168360 PCDH11X,PCDH11X,PCDH11X,PCDH11X,PCDH11X,PCDH11X Silent,Silent,Silent,Silent,Silent,Silent exm2264764 X 91428477 [A/C] NM_032969,NM_032968,NM_001168362,NM_001168361,NM_001168363,NM_001168360 PCDH11X,PCDH11X,PCDH11X,PCDH11X,PCDH11X,PCDH11X Silent,Silent,Silent,Silent,Silent,Silent exm1648651 X 91518138 [A/G] NM_032969,NM_032968,NM_001168362,NM_001168361,NM_001168363,NM_001168360 PCDH11X,PCDH11X,PCDH11X,PCDH11X,PCDH11X,PCDH11X EXON Silent,Missense_G1047E,Silent,Missense_G1047E,Silent,Missense_G1047E exm2263176 X 91754954 [T/C] NM_032969,NM_032968,NM_001168362,NM_001168361,NM_001168363,NM_001168360 PCDH11X,PCDH11X,PCDH11X,PCDH11X,PCDH11X,PCDH11X Silent,Silent,Silent,Silent,Silent,Silent exm2268606 X 92193768 [A/G] exm2264765 X 92850717 [A/C] exm1648682 X 92926826 [T/C] NM_004538 NAP1L3 EXON Missense_Y493C exm1648687 X 92927282 [A/G] NM_004538 NAP1L3 EXON Missense_S341L exm1648689 X 92927311 [C/G] NM_004538 NAP1L3 EXON Missense_K331N exm1648692 X 92927378 [T/C] NM_004538 NAP1L3 EXON Missense_K309R exm1648702 X 92927634 [G/C] NM_004538 NAP1L3 EXON Missense_P224A exm1648707 X 92927832 [T/C] NM_004538 NAP1L3 EXON Missense_T158A exm1648719 X 92928107 [A/C] NM_004538 NAP1L3 EXON Missense_G66V exm1648720 X 92928114 [T/C] NM_004538 NAP1L3 EXON Missense_S64G exm1648732 X 92964617 [A/G] NM_001171109,NM_001171110,NM_173698,NM_001171111 FAM133A,FAM133A,FAM133A,FAM133A EXON Missense_E67K,Missense_E67K,Missense_E67K,Missense_E67K exm1648742 X 92965064 [G/C] NM_001171109,NM_001171110,NM_173698,NM_001171111 FAM133A,FAM133A,FAM133A,FAM133A EXON Missense_E216Q,Missense_E216Q,Missense_E216Q,Missense_E216Q exm2268512 X 93061509 [A/G] exm2264788 X 93285005 [A/C] exm2273279 X 93669135 [T/C] exm2273166 X 93687291 [T/C] exm2268513 X 94405138 [A/G] exm2262879 X 94740631 [A/C] exm2268514 X 95063430 [A/G] exm-rs5990417 X 95079870 [T/C] exm2273280 X 95738501 [T/C] exm2273167 X 95794612 [T/C] exm1648756 X 95993666 [A/G] NM_007309,NM_006729 DIAPH2,DIAPH2 EXON Missense_A83T,Missense_A83T exm1648768 X 96139335 [A/G] NM_007309,NM_006729,NM_013347 DIAPH2,DIAPH2,RPA4 EXON Silent,Silent,Missense_Y9C exm1648771 X 96139406 [A/G] NM_007309,NM_006729,NM_013347 DIAPH2,DIAPH2,RPA4 EXON Silent,Silent,Missense_A33T exm1648784 X 96139763 [A/G] NM_007309,NM_006729,NM_013347 DIAPH2,DIAPH2,RPA4 EXON Silent,Silent,Missense_N152D exm1648790 X 96139902 [A/G] NM_007309,NM_006729,NM_013347 DIAPH2,DIAPH2,RPA4 EXON Silent,Silent,Missense_R198H exm1648795 X 96167327 [T/C] NM_007309,NM_006729 DIAPH2,DIAPH2 EXON Synonymous_S196S,Synonymous_S196S exm1648820 X 96204010 [A/C] NM_007309,NM_006729 DIAPH2,DIAPH2 EXON Missense_E529A,Missense_E529A exm1648823 X 96212915 [T/C] NM_007309,NM_006729 DIAPH2,DIAPH2 EXON Missense_A568V,Missense_A568V exm1648827 X 96213046 [A/G] NM_007309,NM_006729 DIAPH2,DIAPH2 EXON Missense_V612I,Missense_V612I exm2263187 X 96403506 [T/C] NM_007309,NM_006729 DIAPH2,DIAPH2 Silent,Silent exm1648848 X 96502801 [T/C] NM_007309,NM_006729 DIAPH2,DIAPH2 EXON Missense_A936V,Missense_A936V exm2268515 X 96804922 [A/G] NM_006729 DIAPH2 Silent exm2268607 X 96920953 [A/G] exm2264790 X 97291399 [A/C] exm2263189 X 97536015 [T/G] exm2268516 X 98135202 [A/G] exm2268608 X 98453103 [A/G] exm2273281 X 98923191 [T/C] NR_024608 LOC442459 Silent exm2268517 X 99246879 [A/G] exm2215892 X 99551322 [T/G] NM_020766,NM_001105243,NM_001184880 PCDH19,PCDH19,PCDH19 EXON Missense_N1086H,Missense_N1087H,Missense_N1134H exm1648869 X 99551442 [G/C] NM_020766,NM_001105243,NM_001184880 PCDH19,PCDH19,PCDH19 EXON Missense_L1046V,Missense_L1047V,Missense_L1094V exm1648871 X 99551487 [G/C] NM_020766,NM_001105243,NM_001184880 PCDH19,PCDH19,PCDH19 EXON Missense_P1031A,Missense_P1032A,Missense_P1079A exm1648878 X 99551757 [T/G] NM_020766,NM_001105243,NM_001184880 PCDH19,PCDH19,PCDH19 EXON Missense_N941H,Missense_N942H,Missense_N989H exm1648880 X 99551784 [A/G] NM_020766,NM_001105243,NM_001184880 PCDH19,PCDH19,PCDH19 EXON Missense_R932C,Missense_R933C,Missense_R980C exm1648915 X 99662212 [T/C] NM_020766,NM_001105243,NM_001184880 PCDH19,PCDH19,PCDH19 EXON Missense_V462M,Missense_V462M,Missense_V462M exm1648918 X 99662266 [T/C] NM_020766,NM_001105243,NM_001184880 PCDH19,PCDH19,PCDH19 EXON Missense_T444A,Missense_T444A,Missense_T444A exm1648919 X 99662275 [C/G] NM_020766,NM_001105243,NM_001184880 PCDH19,PCDH19,PCDH19 EXON Missense_V441L,Missense_V441L,Missense_V441L exm1648920 X 99662302 [T/C] NM_020766,NM_001105243,NM_001184880 PCDH19,PCDH19,PCDH19 EXON Missense_M432V,Missense_M432V,Missense_M432V exm1648927 X 99662827 [C/G] NM_020766,NM_001105243,NM_001184880 PCDH19,PCDH19,PCDH19 EXON Missense_V257L,Missense_V257L,Missense_V257L exm1648954 X 99840056 [T/C] NM_022144 TNMD EXON Missense_I14T exm1648956 X 99840291 [A/G] NM_022144 TNMD EXON Missense_I38V exm1648957 X 99840303 [A/G] NM_022144 TNMD EXON Missense_T42A exm2215920 X 99849306 [A/C] NM_022144 TNMD EXON Missense_T124P exm1648979 X 99885830 [A/G] NM_003270 TSPAN6 EXON Missense_R235C exm2215934 X 99887519 [T/A] NM_003270 TSPAN6 EXON Missense_V211D exm1648986 X 99888928 [T/C] NM_003270 TSPAN6 EXON Synonymous_T150T exm1648991 X 99890204 [T/C] NM_003270 TSPAN6 EXON Missense_A108T exm1648996 X 99890572 [T/C] NM_003270 TSPAN6 EXON Missense_A87T exm1648998 X 99890615 [A/C] NM_003270 TSPAN6 EXON Missense_I72M exm1649001 X 99890719 [A/C] NM_003270 TSPAN6 EXON Missense_V38F exm2268518 X 99898859 [A/G] exm1649013 X 99917332 [A/G] NM_014467 SRPX2 EXON Missense_S108N exm1649017 X 99919874 [A/C] NM_014467 SRPX2 EXON Nonsense_Y153X exm1649027 X 99920312 [A/G] NM_014467 SRPX2 EXON Missense_R202Q exm1649031 X 99920566 [A/C] NM_014467 SRPX2 EXON Missense_H231Q exm1649033 X 99920610 [A/G] NM_014467 SRPX2 EXON Missense_R246Q exm1649045 X 99921889 [A/G] NM_014467 SRPX2 EXON Missense_Q307R exm1649047 X 99922289 [A/G] NM_014467 SRPX2 EXON Missense_N327S exm1649050 X 99922339 [A/C] NM_014467 SRPX2 EXON Missense_L344I exm1649064 X 99925959 [A/G] NM_014467 SRPX2 EXON Missense_R458Q exm1649069 X 99931059 [T/C] NM_080737,NM_001129896,NM_001174068 SYTL4,SYTL4,SYTL4 EXON Missense_R661H,Missense_R661H,Missense_R661H exm1649071 X 99931103 [T/C] NM_080737,NM_001129896,NM_001174068 SYTL4,SYTL4,SYTL4 EXON Missense_M646I,Missense_M646I,Missense_M646I exm1649075 X 99933535 [C/G] NM_080737,NM_001129896,NM_001174068 SYTL4,SYTL4,SYTL4 EXON Missense_L574V,Missense_L574V,Missense_L574V exm1649080 X 99934398 [T/C] NM_080737,NM_001129896,NM_001174068 SYTL4,SYTL4,SYTL4 EXON Missense_E524K,Missense_E524K,Missense_E524K exm1649092 X 99941705 [T/C] NM_080737,NM_001129896,NM_001174068 SYTL4,SYTL4,SYTL4 EXON Missense_I420V,Missense_I420V,Missense_I420V exm1649113 X 99955893 [T/C] NM_080737,NM_001129896,NM_001174068 SYTL4,SYTL4,SYTL4 EXON Missense_S180N,Missense_S180N,Missense_S180N exm1649115 X 99955954 [T/C] NM_080737,NM_001129896,NM_001174068 SYTL4,SYTL4,SYTL4 EXON Missense_T160A,Missense_T160A,Missense_T160A exm1649121 X 99956599 [A/G] NM_080737,NM_001129896,NM_001174068 SYTL4,SYTL4,SYTL4 EXON Missense_R61W,Missense_R61W,Missense_R61W exm2215990 X 99957026 [A/T] NM_080737,NM_001129896,NM_001174068 SYTL4,SYTL4,SYTL4 EXON Missense_E3V,Missense_E3V,Missense_E3V exm2268609 X 99963270 [A/G] NM_080737,NM_001129896,NM_001174068 SYTL4,SYTL4,SYTL4 Silent,Silent,Silent exm2268519 X 100078029 [A/G] NM_001325 CSTF2 Silent exm1649137 X 100079227 [C/G] NM_001325 CSTF2 EXON Missense_A228G exm1649138 X 100081675 [G/C] NM_001325 CSTF2 EXON Missense_G252A exm1649161 X 100088436 [T/C] NM_001325 CSTF2 EXON Missense_A492V exm1649166 X 100092403 [A/G] NM_001325 CSTF2 EXON Missense_G526R exm1649176 X 100104355 [T/C] NM_007052,NM_001271815,NM_013955 NOX1,NOX1,NOX1 EXON Missense_T453A,Missense_T416A,Silent exm1649177 X 100104769 [T/A] NM_007052,NM_001271815,NM_013955 NOX1,NOX1,NOX1 EXON Missense_T430S,Missense_T393S,Missense_T430S exm1649178 X 100104820 [T/C] NM_007052,NM_001271815,NM_013955 NOX1,NOX1,NOX1 EXON Missense_I413V,Missense_I376V,Missense_I413V exm1649183 X 100104921 [A/G] NM_007052,NM_001271815,NM_013955 NOX1,NOX1,NOX1 EXON Missense_I379T,Missense_I342T,Missense_I379T exm1649184 X 100105140 [T/C] NM_007052,NM_001271815,NM_013955 NOX1,NOX1,NOX1 EXON Missense_R378K,Missense_R341K,Missense_R378K exm1649186 X 100105195 [T/C] NM_007052,NM_001271815,NM_013955 NOX1,NOX1,NOX1 EXON Missense_D360N,Missense_D323N,Missense_D360N exm1649191 X 100105338 [A/G] NM_007052,NM_001271815,NM_013955 NOX1,NOX1,NOX1 EXON Missense_M312T,Missense_M275T,Missense_M312T exm1649195 X 100106259 [T/C] NM_007052,NM_001271815,NM_013955 NOX1,NOX1,NOX1 EXON Missense_R287Q,Missense_R250Q,Missense_R287Q exm1649206 X 100117243 [A/G] NM_007052,NM_001271815,NM_013955 NOX1,NOX1,NOX1 EXON Missense_R241C,Missense_R204C,Missense_R241C exm1649226 X 100117807 [T/C] NM_007052,NM_001271815,NM_013955 NOX1,NOX1,NOX1 EXON Missense_I114V,Missense_I77V,Missense_I114V exm1649229 X 100118222 [T/C] NM_007052,NM_001271815,NM_013955 NOX1,NOX1,NOX1 EXON Missense_R88H,Missense_R51H,Missense_R88H exm1649232 X 100118532 [A/G] NM_007052,NM_001271815,NM_013955 NOX1,NOX1,NOX1 EXON Missense_T65M,Silent,Missense_T65M exm1649246 X 100169451 [T/C] NM_212559 XKRX EXON Missense_R409H exm1649260 X 100169769 [A/C] NM_212559 XKRX EXON Missense_F303C exm1649268 X 100177889 [T/C] NM_212559 XKRX EXON Missense_N166S exm1649270 X 100178006 [T/G] NM_212559 XKRX EXON Missense_E127A exm1649271 X 100183047 [A/T] NM_212559 XKRX EXON Missense_L83M exm1649272 X 100183205 [T/C] NM_212559 XKRX EXON Missense_R30Q exm1649278 X 100240689 [T/C] NM_001012990,NM_001162491,NM_001162490 ARL13A,ARL13A,ARL13A EXON Missense_S55L,Missense_S55L,Missense_S55L exm1649279 X 100240691 [A/G] NM_001012990,NM_001162491,NM_001162490 ARL13A,ARL13A,ARL13A EXON Missense_E56K,Missense_E56K,Missense_E56K exm1649296 X 100243424 [T/G] NM_001012990,NM_001162491,NM_001162490 ARL13A,ARL13A,ARL13A EXON Nonsense_E268X,Silent,Nonsense_E268X exm1649314 X 100274272 [T/C] NM_001167970,NM_024917,NM_001167971,NM_001167972 TRMT2B,TRMT2B,TRMT2B,TRMT2B Silent,Silent,Silent,Silent exm1649321 X 100276147 [T/C] NM_001167970,NM_024917,NM_001167971,NM_001167972 TRMT2B,TRMT2B,TRMT2B,TRMT2B EXON Missense_G337R,Missense_G337R,Missense_G292R,Missense_G337R exm1649327 X 100276212 [A/C] NM_001167970,NM_024917,NM_001167971,NM_001167972 TRMT2B,TRMT2B,TRMT2B,TRMT2B EXON Missense_R315L,Missense_R315L,Missense_R270L,Missense_R315L exm1649330 X 100278490 [A/G] NM_001167970,NM_024917,NM_001167971,NM_001167972 TRMT2B,TRMT2B,TRMT2B,TRMT2B EXON Missense_I242T,Missense_I242T,Missense_I197T,Missense_I242T exm2201893 X 100296359 [C/G] NM_001167970,NM_024917,NM_001167971,NM_001167972 TRMT2B,TRMT2B,TRMT2B,TRMT2B EXON Missense_L84V,Missense_L84V,Missense_L84V,Missense_L84V exm1649355 X 100297250 [A/G] NM_001167970,NM_024917,NM_001167971,NM_001167972 TRMT2B,TRMT2B,TRMT2B,TRMT2B EXON Missense_L10P,Missense_L10P,Missense_L10P,Missense_L10P exm2248496 X 100356087 [A/G] NM_006733 CENPI EXON Missense_V10I exm1649367 X 100356193 [A/G] NM_006733 CENPI EXON Missense_H45R exm1649374 X 100357380 [T/C] NM_006733 CENPI EXON Missense_I115T exm1649383 X 100364980 [A/G] NM_006733 CENPI EXON Missense_D195G exm2201908 X 100382175 [A/G] NM_006733 CENPI EXON Missense_V276M exm1649408 X 100400154 [T/C] NM_006733 CENPI EXON Missense_F556S exm1649428 X 100486731 [A/G] NM_001939,NM_001171184 DRP2,DRP2 EXON Missense_R32Q,Silent exm1649431 X 100490911 [A/C] NM_001939,NM_001171184 DRP2,DRP2 EXON Missense_S60R,Silent exm1649435 X 100490933 [G/C] NM_001939,NM_001171184 DRP2,DRP2 EXON Missense_V68L,Silent exm1649440 X 100492609 [A/G] NM_001939,NM_001171184 DRP2,DRP2 EXON Missense_A95T,Missense_A17T exm1649446 X 100493970 [A/G] NM_001939,NM_001171184 DRP2,DRP2 EXON Missense_A147T,Missense_A69T exm1649449 X 100494055 [T/G] NM_001939,NM_001171184 DRP2,DRP2 EXON Missense_F175C,Missense_F97C exm1649485 X 100503146 [A/G] NM_001939,NM_001171184 DRP2,DRP2 EXON Missense_V441M,Missense_V363M exm1649508 X 100505912 [A/G] NM_001939,NM_001171184 DRP2,DRP2 EXON Missense_G569R,Missense_G491R exm1649517 X 100509468 [T/C] NM_001939,NM_001171184 DRP2,DRP2 EXON Missense_R678C,Missense_R600C exm1649522 X 100511129 [T/C] NM_001939,NM_001171184 DRP2,DRP2 EXON Missense_R757W,Missense_R679W exm1649538 X 100515075 [T/C] NM_001939,NM_001171184 DRP2,DRP2 EXON Missense_S889L,Missense_S811L exm1649542 X 100515548 [T/C] NM_001939,NM_001171184 DRP2,DRP2 EXON Missense_R938C,Missense_R860C exm1649544 X 100524197 [T/C] NM_024885,NM_001168474 TAF7L,TAF7L EXON Missense_R458H,Missense_R372H exm1649550 X 100531043 [A/T] NM_024885,NM_001168474 TAF7L,TAF7L EXON Missense_N410I,Missense_N324I exm1649561 X 100532621 [T/C] NM_024885,NM_001168474 TAF7L,TAF7L EXON Missense_S308G,Missense_S222G exm1649573 X 100533108 [T/C] NM_024885,NM_001168474 TAF7L,TAF7L EXON Missense_Y255C,Missense_Y169C exm1649586 X 100541563 [A/G] NM_024885,NM_001168474 TAF7L,TAF7L EXON Missense_P135S,Missense_P49S exm1649594 X 100547853 [T/C] NM_024885 TAF7L EXON Missense_E61K exm1649596 X 100547880 [T/C] NM_024885 TAF7L EXON Missense_D52N exm1649597 X 100547924 [T/C] NM_024885 TAF7L EXON Missense_R37H exm1649598 X 100547933 [A/G] NM_024885 TAF7L EXON Missense_L34P exm2273282 X 100593213 [T/G] exm1649601 X 100601530 [A/G] NM_004085 TIMM8A EXON Missense_T84I exm1649604 X 100603539 [C/G] NM_004085,NM_001145951 TIMM8A,TIMM8A EXON Missense_Q38H,Missense_Q38H exm1649625 X 100611869 [A/G] NM_000061 BTK EXON Missense_Y418H exm1649638 X 100615612 [T/G] NM_000061 BTK EXON Missense_E240D exm1649641 X 100615717 [A/C] NM_000061 BTK EXON Missense_E205D exm1649648 X 100624987 [A/G] NM_000061 BTK EXON Synonymous_N130N exm1649655 X 100646003 [T/C] NM_001199973,NM_001199972,NM_001199974,NM_021029 RPL36A-HNRNPH2,RPL36A,RPL36A-HNRNPH2,RPL36A EXON Missense_S27F,Missense_S27F,Missense_S27F,Missense_S27F exm1649673 X 100653420 [A/C] NM_001199973,NM_001199974,NM_000169 RPL36A-HNRNPH2,RPL36A-HNRNPH2,GLA EXON Silent,Silent,Missense_D313Y exm1649685 X 100656740 [T/C] NM_001199973,NM_001199974,NM_000169 RPL36A-HNRNPH2,RPL36A-HNRNPH2,GLA EXON Silent,Silent,Missense_A143T exm1649688 X 100656751 [T/C] NM_001199973,NM_001199974,NM_000169 RPL36A-HNRNPH2,RPL36A-HNRNPH2,GLA EXON Silent,Silent,Missense_N139S exm1649689 X 100656791 [T/C] NM_001199973,NM_001199974,NM_000169 RPL36A-HNRNPH2,RPL36A-HNRNPH2,GLA EXON Silent,Silent,Missense_S126G exm1649692 X 100658816 [A/G] NM_001199973,NM_001199974,NM_000169 RPL36A-HNRNPH2,RPL36A-HNRNPH2,GLA EXON Silent,Silent,Missense_R118C exm2277394 X 100658972 [C/G] NM_001199973,NM_001199974,NM_000169 RPL36A-HNRNPH2,RPL36A-HNRNPH2,GLA EXON Silent,Silent,Missense_E66Q exm1649701 X 100662884 [A/G] NM_001199973,NM_001199974,NM_000169 RPL36A-HNRNPH2,RPL36A-HNRNPH2,GLA EXON Silent,Silent,Missense_L3P exm1649725 X 100668164 [C/G] NM_001199973,NM_001199974,NM_001032393,NM_019597 RPL36A-HNRNPH2,RPL36A-HNRNPH2,HNRNPH2,HNRNPH2 EXON Silent,Silent,Missense_M396I,Missense_M396I exm2273170 X 100753863 [T/C] NR_028407,NR_045862,NR_045864,NR_045861,NR_045863 ARMCX4,ARMCX4,ARMCX4,ARMCX4,ARMCX4 EXON Silent,Silent,Silent,Silent,Silent exm1649740 X 100808103 [A/G] NM_016608 ARMCX1 EXON Missense_A64T exm1649746 X 100808293 [T/C] NM_016608 ARMCX1 EXON Missense_A127V exm1649780 X 100871264 [T/C] NM_001184768,NR_033670,NR_033669,NM_001009584,NM_019007 ARMCX6,ARMCX6,ARMCX6,ARMCX6,ARMCX6 EXON Missense_Q116R,Silent,Silent,Missense_Q116R,Missense_Q116R exm1649781 X 100871273 [G/C] NM_001184768,NR_033670,NR_033669,NM_001009584,NM_019007 ARMCX6,ARMCX6,ARMCX6,ARMCX6,ARMCX6 EXON Missense_W113S,Silent,Silent,Missense_W113S,Missense_W113S exm1649799 X 100879980 [T/C] NM_177947,NM_016607,NM_177948 ARMCX3,ARMCX3,ARMCX3 EXON Missense_A4V,Missense_A4V,Missense_A4V exm1649812 X 100880877 [T/A] NM_177947,NM_016607,NM_177948 ARMCX3,ARMCX3,ARMCX3 EXON Missense_L303H,Missense_L303H,Missense_L303H exm2202074 X 100880940 [T/C] NM_177947,NM_016607,NM_177948 ARMCX3,ARMCX3,ARMCX3 EXON Missense_T324I,Missense_T324I,Missense_T324I exm1649824 X 100910836 [T/C] NM_177949,NM_014782 ARMCX2,ARMCX2 EXON Missense_N580S,Missense_N580S exm1649840 X 100911707 [A/G] NM_177949,NM_014782 ARMCX2,ARMCX2 EXON Missense_R290W,Missense_R290W exm1649852 X 100911947 [G/C] NM_177949,NM_014782 ARMCX2,ARMCX2 EXON Missense_G210R,Missense_G210R exm1649867 X 100912145 [A/C] NM_177949,NM_014782 ARMCX2,ARMCX2 EXON Missense_G144W,Missense_G144W exm1649871 X 100912280 [T/C] NM_177949,NM_014782 ARMCX2,ARMCX2 EXON Missense_A99T,Missense_A99T exm1649880 X 100912523 [A/C] NM_177949,NM_014782 ARMCX2,ARMCX2 EXON Missense_A18S,Missense_A18S exm1649923 X 101092524 [T/C] NR_028089,NM_032946 NXF5,NXF5 EXON Silent,Missense_D341G exm1649925 X 101092548 [T/C] NR_028089,NM_032946 NXF5,NXF5 EXON Silent,Missense_H333R exm1649927 X 101092587 [T/C] NR_028089,NM_032946 NXF5,NXF5 EXON Silent,Missense_R320Q exm1649928 X 101092588 [A/G] NR_028089,NM_032946 NXF5,NXF5 EXON Silent,Nonsense_R320X exm1649985 X 101096930 [T/C] NR_028089,NM_032946 NXF5,NXF5 EXON Silent,Missense_K23E exm1649988 X 101097758 [A/G] NR_028089,NM_032946 NXF5,NXF5 EXON Silent,Missense_R3W exm1649992 X 101138586 [A/G] NR_046009,NM_001011657,NR_046008 ZMAT1,ZMAT1,ZMAT1 EXON Silent,Missense_P605S,Silent exm1650001 X 101138792 [T/C] NR_046009,NM_001011657,NR_046008 ZMAT1,ZMAT1,ZMAT1 EXON Silent,Missense_Q536R,Silent exm1650008 X 101139108 [T/C] NR_046009,NM_001011657,NR_046008 ZMAT1,ZMAT1,ZMAT1 EXON Silent,Missense_V431I,Silent exm1650016 X 101139436 [A/C] NR_046009,NM_001011657,NR_046008 ZMAT1,ZMAT1,ZMAT1 EXON Silent,Missense_D321E,Silent exm1650017 X 101139438 [A/C] NR_046009,NM_001011657,NR_046008 ZMAT1,ZMAT1,ZMAT1 EXON Silent,Missense_D321Y,Silent exm1650022 X 101139566 [T/C] NR_046009,NM_001011657,NR_046008 ZMAT1,ZMAT1,ZMAT1 EXON Silent,Missense_R278Q,Silent exm1650027 X 101139650 [A/G] NR_046009,NM_001011657,NR_046008 ZMAT1,ZMAT1,ZMAT1 EXON Silent,Missense_L250S,Silent exm1650031 X 101139758 [T/C] NR_046009,NM_001011657,NR_046008 ZMAT1,ZMAT1,ZMAT1 EXON Silent,Missense_R214K,Silent exm1650041 X 101152994 [T/C] NR_046009,NM_001011657,NR_046008 ZMAT1,ZMAT1,ZMAT1 EXON Silent,Missense_D118N,Silent exm2273283 X 101321490 [T/C] exm1650052 X 101381813 [T/C] NM_080390 TCEAL2 EXON Missense_L4P exm1650053 X 101381816 [A/T] NM_080390 TCEAL2 EXON Missense_F5Y exm1650056 X 101381836 [C/G] NM_080390 TCEAL2 EXON Missense_P12A exm1650071 X 101382176 [T/C] NM_080390 TCEAL2 EXON Missense_A125V exm1650075 X 101382206 [T/C] NM_080390 TCEAL2 EXON Missense_P135L exm1650118 X 101396297 [T/C] NM_001006938 TCEAL6 EXON Missense_K3E exm1650131 X 101409228 [T/C] NM_001012978,NM_001159560 BEX5,BEX5 EXON Missense_V4I,Missense_V4I exm1650231 X 101857095 [A/G] NM_001168485,NM_001168479,NM_001168480,NM_001199818,NM_022838,NM_001168482,NM_001168478 ARMCX5,ARMCX5,ARMCX5,ARMCX5-GPRASP2,ARMCX5,ARMCX5,ARMCX5 EXON Missense_R9K,Missense_R9K,Missense_R9K,Silent,Missense_R9K,Missense_R9K,Missense_R9K exm1650244 X 101857535 [A/G] NM_001168485,NM_001168479,NM_001168480,NM_001199818,NM_022838,NM_001168482,NM_001168478 ARMCX5,ARMCX5,ARMCX5,ARMCX5-GPRASP2,ARMCX5,ARMCX5,ARMCX5 EXON Missense_T156A,Missense_T156A,Missense_T156A,Silent,Missense_T156A,Missense_T156A,Missense_T156A exm1650246 X 101857558 [T/G] NM_001168485,NM_001168479,NM_001168480,NM_001199818,NM_022838,NM_001168482,NM_001168478 ARMCX5,ARMCX5,ARMCX5,ARMCX5-GPRASP2,ARMCX5,ARMCX5,ARMCX5 EXON Missense_S163R,Missense_S163R,Missense_S163R,Silent,Missense_S163R,Missense_S163R,Missense_S163R exm1650270 X 101858648 [G/C] NM_001168485,NM_001168479,NM_001168480,NM_001199818,NM_022838,NM_001168482,NM_001168478 ARMCX5,ARMCX5,ARMCX5,ARMCX5-GPRASP2,ARMCX5,ARMCX5,ARMCX5 EXON Missense_Q527E,Missense_Q527E,Missense_Q527E,Silent,Missense_Q527E,Missense_Q527E,Missense_Q527E exm1650281 X 101908971 [C/G] NM_001199818,NM_014710,NM_001099410,NM_001099411,NM_001184727 ARMCX5-GPRASP2,GPRASP1,GPRASP1,GPRASP1,GPRASP1 EXON Silent,Missense_A44P,Missense_A44P,Missense_A44P,Missense_A44P exm1650283 X 101909100 [T/C] NM_001199818,NM_014710,NM_001099410,NM_001099411,NM_001184727 ARMCX5-GPRASP2,GPRASP1,GPRASP1,GPRASP1,GPRASP1 EXON Silent,Nonsense_R87X,Nonsense_R87X,Nonsense_R87X,Nonsense_R87X exm1650288 X 101909393 [A/C] NM_001199818,NM_014710,NM_001099410,NM_001099411,NM_001184727 ARMCX5-GPRASP2,GPRASP1,GPRASP1,GPRASP1,GPRASP1 EXON Silent,Missense_Q184H,Missense_Q184H,Missense_Q184H,Missense_Q184H exm1650289 X 101909416 [T/C] NM_001199818,NM_014710,NM_001099410,NM_001099411,NM_001184727 ARMCX5-GPRASP2,GPRASP1,GPRASP1,GPRASP1,GPRASP1 EXON Silent,Missense_F192S,Missense_F192S,Missense_F192S,Missense_F192S exm1650291 X 101909463 [A/G] NM_001199818,NM_014710,NM_001099410,NM_001099411,NM_001184727 ARMCX5-GPRASP2,GPRASP1,GPRASP1,GPRASP1,GPRASP1 EXON Silent,Missense_E208K,Missense_E208K,Missense_E208K,Missense_E208K exm1650297 X 101909657 [T/G] NM_001199818,NM_014710,NM_001099410,NM_001099411,NM_001184727 ARMCX5-GPRASP2,GPRASP1,GPRASP1,GPRASP1,GPRASP1 EXON Silent,Missense_W272C,Missense_W272C,Missense_W272C,Missense_W272C exm1650298 X 101909785 [G/C] NM_001199818,NM_014710,NM_001099410,NM_001099411,NM_001184727 ARMCX5-GPRASP2,GPRASP1,GPRASP1,GPRASP1,GPRASP1 EXON Silent,Missense_A315G,Missense_A315G,Missense_A315G,Missense_A315G exm2202244 X 101909897 [A/C] NM_001199818,NM_014710,NM_001099410,NM_001099411,NM_001184727 ARMCX5-GPRASP2,GPRASP1,GPRASP1,GPRASP1,GPRASP1 EXON Silent,Missense_K352N,Missense_K352N,Missense_K352N,Missense_K352N exm1650303 X 101910048 [T/G] NM_001199818,NM_014710,NM_001099410,NM_001099411,NM_001184727 ARMCX5-GPRASP2,GPRASP1,GPRASP1,GPRASP1,GPRASP1 EXON Silent,Missense_A403S,Missense_A403S,Missense_A403S,Missense_A403S exm1650308 X 101910388 [C/G] NM_001199818,NM_014710,NM_001099410,NM_001099411,NM_001184727 ARMCX5-GPRASP2,GPRASP1,GPRASP1,GPRASP1,GPRASP1 EXON Silent,Missense_T516S,Missense_T516S,Missense_T516S,Missense_T516S exm2202250 X 101910591 [T/C] NM_001199818,NM_014710,NM_001099410,NM_001099411,NM_001184727 ARMCX5-GPRASP2,GPRASP1,GPRASP1,GPRASP1,GPRASP1 EXON Silent,Missense_F584L,Missense_F584L,Missense_F584L,Missense_F584L exm1650315 X 101910622 [A/G] NM_001199818,NM_014710,NM_001099410,NM_001099411,NM_001184727 ARMCX5-GPRASP2,GPRASP1,GPRASP1,GPRASP1,GPRASP1 EXON Silent,Missense_C594Y,Missense_C594Y,Missense_C594Y,Missense_C594Y exm1650316 X 101910624 [A/G] NM_001199818,NM_014710,NM_001099410,NM_001099411,NM_001184727 ARMCX5-GPRASP2,GPRASP1,GPRASP1,GPRASP1,GPRASP1 EXON Silent,Missense_R595G,Missense_R595G,Missense_R595G,Missense_R595G exm1650321 X 101910799 [A/G] NM_001199818,NM_014710,NM_001099410,NM_001099411,NM_001184727 ARMCX5-GPRASP2,GPRASP1,GPRASP1,GPRASP1,GPRASP1 EXON Silent,Missense_S653N,Missense_S653N,Missense_S653N,Missense_S653N exm1650322 X 101910817 [A/G] NM_001199818,NM_014710,NM_001099410,NM_001099411,NM_001184727 ARMCX5-GPRASP2,GPRASP1,GPRASP1,GPRASP1,GPRASP1 EXON Silent,Missense_G659D,Missense_G659D,Missense_G659D,Missense_G659D exm1650326 X 101911003 [A/G] NM_001199818,NM_014710,NM_001099410,NM_001099411,NM_001184727 ARMCX5-GPRASP2,GPRASP1,GPRASP1,GPRASP1,GPRASP1 EXON Silent,Missense_G721E,Missense_G721E,Missense_G721E,Missense_G721E exm1650327 X 101911045 [T/C] NM_001199818,NM_014710,NM_001099410,NM_001099411,NM_001184727 ARMCX5-GPRASP2,GPRASP1,GPRASP1,GPRASP1,GPRASP1 EXON Silent,Missense_T735I,Missense_T735I,Missense_T735I,Missense_T735I exm1650329 X 101911213 [T/C] NM_001199818,NM_014710,NM_001099410,NM_001099411,NM_001184727 ARMCX5-GPRASP2,GPRASP1,GPRASP1,GPRASP1,GPRASP1 EXON Silent,Missense_L791P,Missense_L791P,Missense_L791P,Missense_L791P exm1650339 X 101911521 [A/G] NM_001199818,NM_014710,NM_001099410,NM_001099411,NM_001184727 ARMCX5-GPRASP2,GPRASP1,GPRASP1,GPRASP1,GPRASP1 EXON Silent,Missense_V894I,Missense_V894I,Missense_V894I,Missense_V894I exm1650347 X 101911764 [C/G] NM_001199818,NM_014710,NM_001099410,NM_001099411,NM_001184727 ARMCX5-GPRASP2,GPRASP1,GPRASP1,GPRASP1,GPRASP1 EXON Silent,Missense_A975P,Missense_A975P,Missense_A975P,Missense_A975P exm1650348 X 101911780 [A/G] NM_001199818,NM_014710,NM_001099410,NM_001099411,NM_001184727 ARMCX5-GPRASP2,GPRASP1,GPRASP1,GPRASP1,GPRASP1 EXON Silent,Missense_D980G,Missense_D980G,Missense_D980G,Missense_D980G exm1650352 X 101912013 [T/G] NM_001199818,NM_014710,NM_001099410,NM_001099411,NM_001184727 ARMCX5-GPRASP2,GPRASP1,GPRASP1,GPRASP1,GPRASP1 EXON Silent,Missense_G1058C,Missense_G1058C,Missense_G1058C,Missense_G1058C exm1650356 X 101912118 [T/C] NM_001199818,NM_014710,NM_001099410,NM_001099411,NM_001184727 ARMCX5-GPRASP2,GPRASP1,GPRASP1,GPRASP1,GPRASP1 EXON Silent,Missense_P1093S,Missense_P1093S,Missense_P1093S,Missense_P1093S exm1650368 X 101912737 [T/C] NM_001199818,NM_014710,NM_001099410,NM_001099411,NM_001184727 ARMCX5-GPRASP2,GPRASP1,GPRASP1,GPRASP1,GPRASP1 EXON Silent,Missense_M1299T,Missense_M1299T,Missense_M1299T,Missense_M1299T exm1650370 X 101912833 [A/C] NM_001199818,NM_014710,NM_001099410,NM_001099411,NM_001184727 ARMCX5-GPRASP2,GPRASP1,GPRASP1,GPRASP1,GPRASP1 EXON Silent,Missense_T1331K,Missense_T1331K,Missense_T1331K,Missense_T1331K exm1650376 X 101969860 [C/G] NM_001199818,NM_001184875,NM_001004051,NM_001184874,NM_138437,NM_001184876 ARMCX5-GPRASP2,GPRASP2,GPRASP2,GPRASP2,GPRASP2,GPRASP2 EXON Missense_E21D,Missense_E21D,Missense_E21D,Missense_E21D,Missense_E21D,Missense_E21D exm1650386 X 101969937 [C/G] NM_001199818,NM_001184875,NM_001004051,NM_001184874,NM_138437,NM_001184876 ARMCX5-GPRASP2,GPRASP2,GPRASP2,GPRASP2,GPRASP2,GPRASP2 EXON Missense_G47A,Missense_G47A,Missense_G47A,Missense_G47A,Missense_G47A,Missense_G47A exm1650393 X 101970123 [A/G] NM_001199818,NM_001184875,NM_001004051,NM_001184874,NM_138437,NM_001184876 ARMCX5-GPRASP2,GPRASP2,GPRASP2,GPRASP2,GPRASP2,GPRASP2 EXON Missense_R109H,Missense_R109H,Missense_R109H,Missense_R109H,Missense_R109H,Missense_R109H exm1650396 X 101970180 [G/C] NM_001199818,NM_001184875,NM_001004051,NM_001184874,NM_138437,NM_001184876 ARMCX5-GPRASP2,GPRASP2,GPRASP2,GPRASP2,GPRASP2,GPRASP2 EXON Missense_A128G,Missense_A128G,Missense_A128G,Missense_A128G,Missense_A128G,Missense_A128G exm1650402 X 101970316 [A/C] NM_001199818,NM_001184875,NM_001004051,NM_001184874,NM_138437,NM_001184876 ARMCX5-GPRASP2,GPRASP2,GPRASP2,GPRASP2,GPRASP2,GPRASP2 EXON Missense_R173S,Missense_R173S,Missense_R173S,Missense_R173S,Missense_R173S,Missense_R173S exm1650404 X 101970495 [T/C] NM_001199818,NM_001184875,NM_001004051,NM_001184874,NM_138437,NM_001184876 ARMCX5-GPRASP2,GPRASP2,GPRASP2,GPRASP2,GPRASP2,GPRASP2 EXON Missense_A233V,Missense_A233V,Missense_A233V,Missense_A233V,Missense_A233V,Missense_A233V exm1650408 X 101970662 [A/G] NM_001199818,NM_001184875,NM_001004051,NM_001184874,NM_138437,NM_001184876 ARMCX5-GPRASP2,GPRASP2,GPRASP2,GPRASP2,GPRASP2,GPRASP2 EXON Missense_S289G,Missense_S289G,Missense_S289G,Missense_S289G,Missense_S289G,Missense_S289G exm1650422 X 101971095 [T/C] NM_001199818,NM_001184875,NM_001004051,NM_001184874,NM_138437,NM_001184876 ARMCX5-GPRASP2,GPRASP2,GPRASP2,GPRASP2,GPRASP2,GPRASP2 EXON Missense_A433V,Missense_A433V,Missense_A433V,Missense_A433V,Missense_A433V,Missense_A433V exm1650426 X 101971433 [T/C] NM_001199818,NM_001184875,NM_001004051,NM_001184874,NM_138437,NM_001184876 ARMCX5-GPRASP2,GPRASP2,GPRASP2,GPRASP2,GPRASP2,GPRASP2 EXON Missense_P546S,Missense_P546S,Missense_P546S,Missense_P546S,Missense_P546S,Missense_P546S exm1650429 X 101971764 [A/C] NM_001199818,NM_001184875,NM_001004051,NM_001184874,NM_138437,NM_001184876 ARMCX5-GPRASP2,GPRASP2,GPRASP2,GPRASP2,GPRASP2,GPRASP2 EXON Missense_T656K,Missense_T656K,Missense_T656K,Missense_T656K,Missense_T656K,Missense_T656K exm1650432 X 101971917 [G/C] NM_001199818,NM_001184875,NM_001004051,NM_001184874,NM_138437,NM_001184876 ARMCX5-GPRASP2,GPRASP2,GPRASP2,GPRASP2,GPRASP2,GPRASP2 EXON Missense_T707S,Missense_T707S,Missense_T707S,Missense_T707S,Missense_T707S,Missense_T707S exm1650434 X 101971957 [A/G] NM_001199818,NM_001184875,NM_001004051,NM_001184874,NM_138437,NM_001184876 ARMCX5-GPRASP2,GPRASP2,GPRASP2,GPRASP2,GPRASP2,GPRASP2 EXON Missense_M720I,Missense_M720I,Missense_M720I,Missense_M720I,Missense_M720I,Missense_M720I exm1650456 X 102004308 [T/G] NM_001142527,NM_001142524,NM_030639,NM_001142525,NM_001142528,NM_001142526,NM_001142530,NM_001142529 BHLHB9,BHLHB9,BHLHB9,BHLHB9,BHLHB9,BHLHB9,BHLHB9,BHLHB9 EXON Missense_A129S,Missense_A129S,Missense_A129S,Missense_A129S,Missense_A129S,Missense_A129S,Missense_A129S,Missense_A129S exm1650457 X 102004317 [A/G] NM_001142527,NM_001142524,NM_030639,NM_001142525,NM_001142528,NM_001142526,NM_001142530,NM_001142529 BHLHB9,BHLHB9,BHLHB9,BHLHB9,BHLHB9,BHLHB9,BHLHB9,BHLHB9 EXON Missense_S132G,Missense_S132G,Missense_S132G,Missense_S132G,Missense_S132G,Missense_S132G,Missense_S132G,Missense_S132G exm1650460 X 102004384 [T/C] NM_001142527,NM_001142524,NM_030639,NM_001142525,NM_001142528,NM_001142526,NM_001142530,NM_001142529 BHLHB9,BHLHB9,BHLHB9,BHLHB9,BHLHB9,BHLHB9,BHLHB9,BHLHB9 EXON Missense_A154V,Missense_A154V,Missense_A154V,Missense_A154V,Missense_A154V,Missense_A154V,Missense_A154V,Missense_A154V exm1650462 X 102004490 [A/T] NM_001142527,NM_001142524,NM_030639,NM_001142525,NM_001142528,NM_001142526,NM_001142530,NM_001142529 BHLHB9,BHLHB9,BHLHB9,BHLHB9,BHLHB9,BHLHB9,BHLHB9,BHLHB9 EXON Missense_N189K,Missense_N189K,Missense_N189K,Missense_N189K,Missense_N189K,Missense_N189K,Missense_N189K,Missense_N189K exm1650464 X 102004636 [T/C] NM_001142527,NM_001142524,NM_030639,NM_001142525,NM_001142528,NM_001142526,NM_001142530,NM_001142529 BHLHB9,BHLHB9,BHLHB9,BHLHB9,BHLHB9,BHLHB9,BHLHB9,BHLHB9 EXON Missense_P238L,Missense_P238L,Missense_P238L,Missense_P238L,Missense_P238L,Missense_P238L,Missense_P238L,Missense_P238L exm1650470 X 102004767 [T/C] NM_001142527,NM_001142524,NM_030639,NM_001142525,NM_001142528,NM_001142526,NM_001142530,NM_001142529 BHLHB9,BHLHB9,BHLHB9,BHLHB9,BHLHB9,BHLHB9,BHLHB9,BHLHB9 EXON Missense_R282C,Missense_R282C,Missense_R282C,Missense_R282C,Missense_R282C,Missense_R282C,Missense_R282C,Missense_R282C exm1650473 X 102004866 [A/G] NM_001142527,NM_001142524,NM_030639,NM_001142525,NM_001142528,NM_001142526,NM_001142530,NM_001142529 BHLHB9,BHLHB9,BHLHB9,BHLHB9,BHLHB9,BHLHB9,BHLHB9,BHLHB9 EXON Missense_K315E,Missense_K315E,Missense_K315E,Missense_K315E,Missense_K315E,Missense_K315E,Missense_K315E,Missense_K315E exm1650474 X 102004875 [T/C] NM_001142527,NM_001142524,NM_030639,NM_001142525,NM_001142528,NM_001142526,NM_001142530,NM_001142529 BHLHB9,BHLHB9,BHLHB9,BHLHB9,BHLHB9,BHLHB9,BHLHB9,BHLHB9 EXON Missense_C318R,Missense_C318R,Missense_C318R,Missense_C318R,Missense_C318R,Missense_C318R,Missense_C318R,Missense_C318R exm1650495 X 102192315 [C/G] NM_001031834 RAB40AL EXON Missense_R23S exm1650500 X 102192355 [A/G] NM_001031834 RAB40AL EXON Missense_G37S exm1650507 X 102192422 [A/G] NM_001031834 RAB40AL EXON Missense_D59G exm1650508 X 102192423 [A/C] NM_001031834 RAB40AL EXON Missense_D59E exm2268610 X 102201216 [A/G] exm1650544 X 102317952 [T/C] NM_018476 BEX1 EXON Missense_R84K exm1650552 X 102318099 [A/G] NM_018476 BEX1 EXON Missense_A35V exm2202305 X 102331170 [T/C] NM_022052 NXF3 EXON Silent exm1650555 X 102332578 [T/G] NM_022052 NXF3 EXON Missense_S516R exm1650572 X 102334397 [A/G] NM_022052 NXF3 EXON Missense_R409W exm1650599 X 102338185 [T/A] NM_022052 NXF3 EXON Missense_N186I exm2248509 X 102338357 [T/C] NM_022052 NXF3 EXON Missense_S170N exm1650610 X 102339662 [T/C] NM_022052 NXF3 EXON Missense_M60V exm1650613 X 102347926 [A/G] NM_022052 NXF3 EXON Missense_T9M exm1650628 X 102471332 [T/C] NM_001080425,NM_001127688 BEX4,BEX4 EXON Missense_V84A,Missense_V84A exm1650680 X 102564736 [A/G] NM_001168399,NM_032621,NM_001168400,NM_001168401 BEX2,BEX2,BEX2,BEX2 EXON Missense_R89C,Missense_R57C,Missense_R88C,Missense_R57C exm1650684 X 102564811 [T/C] NM_001168399,NM_032621,NM_001168400,NM_001168401 BEX2,BEX2,BEX2,BEX2 EXON Missense_N64D,Missense_N32D,Missense_N63D,Missense_N32D exm2202370 X 102632714 [A/G] NM_206917,NM_206915,NM_014380 NGFRAP1,NGFRAP1,NGFRAP1 EXON Missense_N89D,Missense_N99D,Missense_N99D exm1650750 X 102755551 [A/T] NM_080879 RAB40A EXON Missense_H45L exm1650752 X 102755560 [A/G] NM_080879 RAB40A EXON Missense_P42L exm1650763 X 102841580 [A/G] NM_001006935,NM_024863,NM_001006937 TCEAL4,TCEAL4,TCEAL4 EXON Silent,Silent,Silent exm1650764 X 102841709 [C/G] NM_001006935,NM_024863,NM_001006937 TCEAL4,TCEAL4,TCEAL4 EXON Missense_L36V,Missense_L36V,Missense_L36V exm2277396 X 102841890 [T/G] NM_001006935,NM_024863,NM_001006937 TCEAL4,TCEAL4,TCEAL4 EXON Missense_I96R,Missense_I96R,Missense_I96R exm1650804 X 102884857 [T/C] NM_001006640,NM_004780,NM_001006639 TCEAL1,TCEAL1,TCEAL1 EXON Missense_R5C,Missense_R5C,Missense_R5C exm2268522 X 102914338 [A/G] exm1650821 X 102931606 [T/C] NM_001142431,NM_001142424,NM_001142427,NM_001142426,NM_001142432,NM_001142422,NM_001142430,NM_001142429,NM_001142420,NM_001142423,NM_001142419,NM_001142428,NM_012286,NM_001142418,NM_001142421,NM_001142425 MORF4L2,MORF4L2,MORF4L2,MORF4L2,MORF4L2,MORF4L2,MORF4L2,MORF4L2,MORF4L2,MORF4L2,MORF4L2,MORF4L2,MORF4L2,MORF4L2,MORF4L2,MORF4L2 EXON Missense_N117S,Missense_N117S,Missense_N117S,Missense_N117S,Missense_N117S,Missense_N117S,Missense_N117S,Missense_N117S,Missense_N117S,Missense_N117S,Missense_N117S,Missense_N117S,Missense_N117S,Missense_N117S,Missense_N117S,Missense_N117S exm1650834 X 102962343 [T/C] NM_001024452 GLRA4 EXON Missense_I395V exm1650839 X 102962435 [T/C] NM_001024452 GLRA4 EXON Missense_D364G exm1650841 X 102967251 [A/G] NM_001024452,NM_182541 GLRA4,TMEM31 EXON Silent,Missense_N22S exm1650852 X 102968577 [T/G] NM_001024452,NM_182541 GLRA4,TMEM31 EXON Synonymous_I318I,Missense_R53L exm1650853 X 102968588 [T/C] NM_001024452,NM_182541 GLRA4,TMEM31 EXON Missense_V315M,Missense_R57C exm1650855 X 102968656 [T/G] NM_001024452,NM_182541 GLRA4,TMEM31 EXON Silent,Missense_E79D exm1650868 X 102973915 [A/G] NM_001024452,NM_001172285 GLRA4,GLRA4 EXON Silent,Missense_P335S exm1650871 X 102974035 [T/C] NM_001024452,NM_001172285 GLRA4,GLRA4 EXON Missense_V295M,Missense_V295M exm2248513 X 102974085 [T/C] NM_001024452,NM_001172285 GLRA4,GLRA4 EXON Nonsense_W278X,Nonsense_W278X exm1650875 X 102974182 [T/C] NM_001024452,NM_001172285 GLRA4,GLRA4 EXON Missense_E246K,Missense_E246K exm1650878 X 102977125 [A/G] NM_001024452,NM_001172285 GLRA4,GLRA4 EXON Missense_R225W,Missense_R225W exm1650885 X 102977201 [T/G] NM_001024452,NM_001172285 GLRA4,GLRA4 EXON Missense_D199E,Missense_D199E exm1650891 X 102979042 [T/C] NM_001024452,NM_001172285 GLRA4,GLRA4 EXON Missense_R153H,Missense_R153H exm1650893 X 102979068 [G/C] NM_001024452,NM_001172285 GLRA4,GLRA4 EXON Missense_E144D,Missense_E144D exm1650895 X 102979163 [G/C] NM_001024452,NM_001172285 GLRA4,GLRA4 EXON Missense_P113A,Missense_P113A exm1650896 X 102979184 [A/G] NM_001024452,NM_001172285 GLRA4,GLRA4 EXON Missense_R106C,Missense_R106C exm1650897 X 102979187 [A/G] NM_001024452,NM_001172285 GLRA4,GLRA4 EXON Missense_P105S,Missense_P105S exm1650900 X 102979486 [T/C] NM_001024452,NM_001172285 GLRA4,GLRA4 EXON Missense_I85V,Missense_I85V exm1650901 X 102979536 [T/C] NM_001024452,NM_001172285 GLRA4,GLRA4 EXON Missense_G68D,Missense_G68D exm1650904 X 102979868 [A/G] NM_001024452,NM_001172285 GLRA4,GLRA4 EXON Nonsense_R54X,Nonsense_R54X exm1650927 X 103080314 [C/G] NM_016370 RAB9B EXON Missense_T134S exm1650948 X 103267820 [A/G] NR_031657,NM_001002916 MIR1256,H2BFWT EXON Silent,Missense_T138I exm2202435 X 103267856 [A/C] NR_031657,NM_001002916 MIR1256,H2BFWT EXON Silent,Missense_R126L exm1650950 X 103267857 [A/G] NR_031657,NM_001002916 MIR1256,H2BFWT EXON Silent,Missense_R126C exm1650951 X 103267865 [T/C] NR_031657,NM_001002916 MIR1256,H2BFWT EXON Silent,Missense_R123H exm1650964 X 103268028 [A/G] NR_031657,NM_001002916 MIR1256,H2BFWT EXON Silent,Missense_P69S exm1650965 X 103268037 [A/G] NR_031657,NM_001002916 MIR1256,H2BFWT EXON Silent,Missense_R66C exm1650968 X 103268151 [T/C] NR_031657,NM_001002916 MIR1256,H2BFWT EXON Silent,Missense_A28T exm2277397 X 103268231 [A/G] NR_031657,NM_001002916 MIR1256,H2BFWT EXON Silent,Missense_M1T exm1650984 X 103294668 [A/G] NR_031657,NM_001164416 MIR1256,H2BFM EXON Silent,Missense_R42Q exm1650999 X 103349129 [T/C] NM_001012755 SLC25A53 EXON Missense_R271H exm1651000 X 103349156 [T/C] NM_001012755 SLC25A53 EXON Missense_R262Q exm1651033 X 103349891 [T/C] NM_001012755 SLC25A53 EXON Missense_R17Q exm1651034 X 103349900 [T/C] NM_001012755 SLC25A53 EXON Missense_H14R exm1651042 X 103359334 [T/C] NM_001012755,NR_026694,NM_001143978 SLC25A53,ZCCHC18,ZCCHC18 EXON Silent,Silent,Missense_L178F exm1651074 X 103495007 [C/G] NM_153448 ESX1 EXON Missense_L375V exm1651122 X 103495552 [T/C] NM_153448 ESX1 EXON Missense_K193R exm1651123 X 103497474 [T/C] NM_153448 ESX1 EXON Missense_D181G exm2268612 X 103895921 [A/G] NM_017416 IL1RAPL2 Silent exm1651155 X 103903610 [T/C] NM_017416 IL1RAPL2 EXON Missense_L6F exm1651158 X 103903659 [T/C] NM_017416 IL1RAPL2 EXON Missense_V22A exm2273173 X 104081303 [T/C] NM_017416 IL1RAPL2 Silent exm2262898 X 104246614 [A/G] NM_017416 IL1RAPL2 Silent exm1651160 X 104440271 [T/C] NM_017416 IL1RAPL2 EXON Missense_T66M exm1651163 X 104440391 [T/C] NM_017416 IL1RAPL2 EXON Missense_A106V exm1651165 X 104463649 [A/G] NM_017416,NM_031274 IL1RAPL2,TEX13A EXON Silent,Synonymous_H409H exm1651168 X 104463709 [A/C] NM_017416,NM_031274 IL1RAPL2,TEX13A EXON Silent,Missense_N389K exm1651171 X 104463794 [T/C] NM_017416,NM_031274 IL1RAPL2,TEX13A EXON Silent,Missense_R361K exm1651172 X 104463803 [A/G] NM_017416,NM_031274 IL1RAPL2,TEX13A EXON Silent,Missense_P358L exm1651177 X 104463832 [A/C] NM_017416,NM_031274 IL1RAPL2,TEX13A EXON Silent,Synonymous_G348G exm1651180 X 104463898 [T/C] NM_017416,NM_031274 IL1RAPL2,TEX13A EXON Silent,Synonymous_A326A exm1651186 X 104464069 [T/C] NM_017416,NM_031274 IL1RAPL2,TEX13A EXON Silent,Synonymous_S269S exm1651187 X 104464099 [A/G] NM_017416,NM_031274 IL1RAPL2,TEX13A EXON Silent,Synonymous_Y259Y exm1651235 X 104464336 [A/G] NM_017416,NM_031274 IL1RAPL2,TEX13A EXON Silent,Missense_A181V exm1651236 X 104464342 [T/A] NM_017416,NM_031274 IL1RAPL2,TEX13A EXON Silent,Missense_E179V exm1651241 X 104464660 [T/C] NM_017416,NM_031274 IL1RAPL2,TEX13A EXON Silent,Missense_K141R exm1651242 X 104464670 [T/C] NM_017416,NM_031274 IL1RAPL2,TEX13A EXON Silent,Missense_E138K exm1651245 X 104464726 [T/C] NM_017416,NM_031274 IL1RAPL2,TEX13A EXON Silent,Missense_E119G exm1651249 X 104465027 [A/C] NM_017416,NM_031274 IL1RAPL2,TEX13A EXON Silent,Missense_A19S exm2273284 X 104538059 [T/C] NM_017416 IL1RAPL2 Silent exm2273174 X 104883921 [T/C] NM_017416 IL1RAPL2 Silent exm2248518 X 105011339 [C/G] NM_017416 IL1RAPL2 EXON Missense_Q582H exm1651300 X 105132389 [T/C] NM_198465 NRK EXON Missense_P119S exm1651304 X 105142634 [T/C] NM_198465 NRK EXON Missense_I213T exm1651314 X 105152282 [A/G] NM_198465 NRK EXON Missense_V358M exm1651318 X 105152867 [A/G] NM_198465 NRK EXON Missense_A412T exm1651321 X 105152946 [A/G] NM_198465 NRK EXON Missense_R438Q exm1651328 X 105153172 [T/G] NM_198465 NRK EXON Missense_L513F exm1651350 X 105153813 [A/G] NM_198465 NRK EXON Missense_R727H exm1651351 X 105156700 [G/C] NM_198465 NRK EXON Missense_Q768E exm1651356 X 105159737 [T/C] NM_198465 NRK EXON Missense_P789S exm1651358 X 105159767 [T/C] NM_198465 NRK EXON Missense_H799Y exm1651360 X 105165997 [T/A] NM_198465 NRK EXON Missense_S852T exm1651374 X 105167411 [A/G] NM_198465 NRK EXON Missense_D971G exm1651380 X 105168689 [A/C] NM_198465 NRK EXON Missense_A993E exm1651384 X 105168819 [A/C] NM_198465 NRK EXON Missense_D1036E exm1651386 X 105168860 [T/C] NM_198465 NRK EXON Missense_I1050T exm1651395 X 105178340 [T/C] NM_198465 NRK EXON Missense_S1135P exm1651396 X 105178347 [T/C] NM_198465 NRK EXON Missense_S1137L exm1651409 X 105189958 [T/C] NM_198465 NRK EXON Missense_V1385A exm1651414 X 105190439 [A/G] NM_198465 NRK EXON Missense_V1446M exm1651417 X 105193678 [T/C] NM_198465 NRK EXON Missense_L1489F exm1651418 X 105193726 [T/G] NM_198465 NRK EXON Missense_A1505S exm1651422 X 105197127 [A/G] NM_198465 NRK EXON Missense_I1539V exm1651427 X 105277497 [T/G] NM_000354 SERPINA7 EXON Missense_E414D exm1651429 X 105277576 [T/C] NM_000354 SERPINA7 EXON Missense_D388G exm1651437 X 105278284 [A/T] NM_000354 SERPINA7 EXON Missense_Y329F exm1651438 X 105278297 [T/C] NM_000354 SERPINA7 EXON Missense_I325V exm1651440 X 105278361 [A/C] NM_000354 SERPINA7 EXON Missense_L303F exm1651448 X 105279368 [T/C] NM_000354 SERPINA7 EXON Missense_A211T exm1651450 X 105280479 [T/C] NM_000354 SERPINA7 EXON Missense_D191N exm1651452 X 105280566 [T/C] NM_000354 SERPINA7 EXON Missense_D162N exm1651463 X 105280995 [A/G] NM_000354 SERPINA7 EXON Missense_H19Y exm1651465 X 105281028 [A/C] NM_000354 SERPINA7 EXON Missense_V8F exm1651468 X 105449445 [T/A] NM_152423,NM_001171020 MUM1L1,MUM1L1 EXON Missense_L7Q,Missense_L7Q exm1651471 X 105449515 [T/G] NM_152423,NM_001171020 MUM1L1,MUM1L1 EXON Missense_K30N,Missense_K30N exm1651475 X 105449661 [T/C] NM_152423,NM_001171020 MUM1L1,MUM1L1 EXON Missense_P79L,Missense_P79L exm1651476 X 105449709 [A/G] NM_152423,NM_001171020 MUM1L1,MUM1L1 EXON Missense_G95D,Missense_G95D exm1651499 X 105450426 [T/C] NM_152423,NM_001171020 MUM1L1,MUM1L1 EXON Missense_M334T,Missense_M334T exm1651508 X 105450992 [A/G] NM_152423,NM_001171020 MUM1L1,MUM1L1 EXON Missense_R523G,Missense_R523G exm1651515 X 105451287 [T/A] NM_152423,NM_001171020 MUM1L1,MUM1L1 EXON Missense_D621V,Missense_D621V exm2268613 X 105558599 [A/G] exm1651524 X 105855462 [A/G] NM_018015,NM_001184782 CXorf57,CXorf57 EXON Missense_E51G,Missense_E51G exm1651529 X 105855768 [T/C] NM_018015,NM_001184782 CXorf57,CXorf57 EXON Missense_V153A,Missense_V153A exm1651565 X 105883826 [T/G] NM_018015,NM_001184782 CXorf57,CXorf57 EXON Missense_I593M,Missense_I496M exm1651575 X 105905248 [A/G] NM_018015,NM_001184782 CXorf57,CXorf57 EXON Missense_R661Q,Missense_R564Q exm1651576 X 105905365 [A/G] NM_018015,NM_001184782 CXorf57,CXorf57 EXON Missense_R700H,Missense_R603H exm1651579 X 105905391 [A/G] NM_018015,NM_001184782 CXorf57,CXorf57 EXON Missense_K709E,Missense_K612E exm1651584 X 105912402 [A/G] NM_018015,NM_001184782 CXorf57,CXorf57 EXON Missense_H760R,Missense_H663R exm1651585 X 105912452 [A/G] NM_018015,NM_001184782 CXorf57,CXorf57 EXON Missense_I777V,Missense_I680V exm1651588 X 105912516 [A/G] NM_018015,NM_001184782 CXorf57,CXorf57 EXON Missense_D798G,Missense_D701G exm1651592 X 105921402 [A/G] NM_018015,NM_001184782 CXorf57,CXorf57 EXON Missense_V828I,Missense_V731I exm2202589 X 105921405 [A/G] NM_018015,NM_001184782 CXorf57,CXorf57 EXON Missense_G829S,Missense_G732S exm1651597 X 105937370 [A/G] NM_024539 RNF128 EXON Missense_I46M exm1651598 X 105937389 [A/G] NM_024539 RNF128 EXON Missense_V53I exm1651599 X 105937424 [A/G] NM_024539 RNF128 EXON Missense_M64I exm1651607 X 105937637 [T/C] NM_024539 RNF128 EXON Synonymous_F135F exm1651619 X 106016268 [T/A] NM_024539,NM_194463 RNF128,RNF128 EXON Missense_N178Y,Missense_N204Y exm1651631 X 106034435 [T/C] NM_024539,NM_194463 RNF128,RNF128 EXON Missense_P349L,Missense_P375L exm1651632 X 106034449 [T/C] NM_024539,NM_194463 RNF128,RNF128 EXON Missense_H354Y,Missense_H380Y exm1651639 X 106038914 [A/G] NM_024539,NM_194463 RNF128,RNF128 EXON Missense_E394K,Missense_E420K exm1651640 X 106038915 [A/T] NM_024539,NM_194463 RNF128,RNF128 EXON Missense_E394V,Missense_E420V exm1651661 X 106065273 [A/G] NM_198881,NM_017752 TBC1D8B,TBC1D8B EXON Missense_A143T,Missense_A143T exm1651668 X 106066611 [T/G] NM_198881,NM_017752 TBC1D8B,TBC1D8B EXON Missense_A248S,Missense_A248S exm1651674 X 106069354 [T/C] NM_198881,NM_017752 TBC1D8B,TBC1D8B EXON Missense_W308R,Missense_W308R exm1651675 X 106069357 [A/G] NM_198881,NM_017752 TBC1D8B,TBC1D8B EXON Missense_V309I,Missense_V309I exm1651683 X 106070506 [T/C] NM_198881,NM_017752 TBC1D8B,TBC1D8B EXON Missense_V381A,Missense_V381A exm1651690 X 106082571 [G/C] NM_198881,NM_017752 TBC1D8B,TBC1D8B EXON Missense_D413H,Missense_D413H exm1651691 X 106082584 [T/G] NM_198881,NM_017752 TBC1D8B,TBC1D8B EXON Missense_V417G,Missense_V417G exm1651700 X 106083365 [T/C] NM_198881,NM_017752 TBC1D8B,TBC1D8B EXON Nonsense_R481X,Nonsense_R481X exm1651716 X 106093262 [C/G] NM_017752 TBC1D8B EXON Missense_L615F exm1651728 X 106096795 [A/G] NM_017752 TBC1D8B EXON Missense_N723S exm1651738 X 106109101 [A/G] NM_017752 TBC1D8B EXON Missense_E834K exm1651740 X 106109204 [T/G] NM_017752 TBC1D8B EXON Missense_R868I exm2202641 X 106110029 [A/C] NM_017752 TBC1D8B EXON Missense_I889L exm1651746 X 106111686 [T/G] NM_017752 TBC1D8B EXON Missense_L931R exm1651751 X 106112751 [T/C] NM_017752 TBC1D8B EXON Missense_A950V exm1651755 X 106116819 [T/C] NM_017752 TBC1D8B EXON Missense_S996L exm1651759 X 106116878 [A/C] NM_017752 TBC1D8B EXON Missense_I1016L exm1651761 X 106116915 [A/G] NM_017752 TBC1D8B EXON Missense_E1028G exm1651762 X 106116920 [A/G] NM_017752 TBC1D8B EXON Missense_G1030R exm1651766 X 106117002 [A/T] NM_017752 TBC1D8B EXON Missense_K1057I exm1651767 X 106117019 [A/G] NM_017752 TBC1D8B EXON Missense_E1063K exm2262902 X 106140325 [A/G] exm1651777 X 106144073 [T/C] NM_001171706,NM_138382,NM_001171092 RIPPLY1,RIPPLY1,CLDN2 EXON Missense_N74S,Missense_N121S,Silent exm1651781 X 106144731 [A/G] NM_001171706,NM_138382,NM_001171092 RIPPLY1,RIPPLY1,CLDN2 EXON Silent,Missense_A90V,Silent exm2262715 X 106146349 [T/C] NM_001171706,NM_138382,NM_001171092 RIPPLY1,RIPPLY1,CLDN2 Silent,Silent,Silent exm1651792 X 106171514 [T/C] NM_001171092,NM_001171095,NM_020384 CLDN2,CLDN2,CLDN2 EXON Missense_L19S,Missense_L19S,Missense_L19S exm1651796 X 106171681 [A/G] NM_001171092,NM_001171095,NM_020384 CLDN2,CLDN2,CLDN2 EXON Missense_A75T,Missense_A75T,Missense_A75T exm1651801 X 106171931 [A/T] NM_001171092,NM_001171095,NM_020384 CLDN2,CLDN2,CLDN2 EXON Missense_F158Y,Missense_F158Y,Missense_F158Y exm1651803 X 106172030 [A/G] NM_001171092,NM_001171095,NM_020384 CLDN2,CLDN2,CLDN2 EXON Missense_R191H,Missense_R191H,Missense_R191H exm2202666 X 106185196 [A/G] NM_001085354,NM_024657 MORC4,MORC4 EXON Silent,Missense_R878W exm1651819 X 106185951 [T/C] NM_001085354,NM_024657 MORC4,MORC4 EXON Missense_A724T,Missense_A724T exm1651829 X 106186164 [A/G] NM_001085354,NM_024657 MORC4,MORC4 EXON Missense_R653C,Missense_R653C exm1651830 X 106186197 [A/C] NM_001085354,NM_024657 MORC4,MORC4 EXON Missense_V642F,Missense_V642F exm2202672 X 106186291 [A/G] NM_001085354,NM_024657 MORC4,MORC4 EXON Synonymous_N610N,Synonymous_N610N exm1651844 X 106199754 [A/C] NM_001085354,NM_024657 MORC4,MORC4 EXON Missense_V489F,Missense_V489F exm1651845 X 106200202 [A/G] NM_001085354,NM_024657 MORC4,MORC4 EXON Missense_T473I,Missense_T473I exm2248524 X 106219831 [A/C] NM_001085354,NM_024657 MORC4,MORC4 EXON Missense_E380D,Missense_E380D exm1651855 X 106219907 [T/C] NM_001085354,NM_024657 MORC4,MORC4 EXON Missense_R355H,Missense_R355H exm1651857 X 106221327 [T/C] NM_001085354,NM_024657 MORC4,MORC4 EXON Missense_V347M,Missense_V347M exm1651859 X 106221389 [T/C] NM_001085354,NM_024657 MORC4,MORC4 EXON Missense_N326S,Missense_N326S exm1651877 X 106229237 [T/C] NM_001085354,NM_024657 MORC4,MORC4 EXON Missense_I168V,Missense_I168V exm1651879 X 106229396 [T/G] NM_001085354,NM_024657 MORC4,MORC4 EXON Missense_Q115K,Missense_Q115K exm1651880 X 106229397 [G/C] NM_001085354,NM_024657 MORC4,MORC4 EXON Missense_S114R,Missense_S114R exm1651893 X 106310821 [T/C] NM_001171080,NM_018301 RBM41,RBM41 EXON Missense_N393S,Missense_N393S exm1651894 X 106310827 [T/C] NM_001171080,NM_018301 RBM41,RBM41 EXON Missense_R391Q,Missense_R391Q exm1651895 X 106310828 [A/G] NM_001171080,NM_018301 RBM41,RBM41 EXON Missense_R391W,Missense_R391W exm1651898 X 106310891 [T/C] NM_001171080,NM_018301 RBM41,RBM41 EXON Missense_V370I,Missense_V370I exm1651899 X 106310896 [T/C] NM_001171080,NM_018301 RBM41,RBM41 EXON Missense_H368R,Missense_H368R exm1651904 X 106312558 [A/C] NM_001171080,NM_018301 RBM41,RBM41 EXON Missense_E334D,Missense_E334D exm2268526 X 106313508 [A/G] NM_001171080,NM_018301 RBM41,RBM41 Silent,Silent exm1651925 X 106358717 [C/G] NM_001171080,NM_018301 RBM41,RBM41 EXON Missense_E130Q,Missense_E130Q exm1651926 X 106358719 [A/G] NM_001171080,NM_018301 RBM41,RBM41 EXON Missense_S129L,Missense_S129L exm1651930 X 106359970 [T/A] NM_001171080,NM_018301 RBM41,RBM41 EXON Missense_E12V,Missense_E12V exm1651936 X 106396402 [A/G] NR_033676,NM_017681 NUP62CL,NUP62CL EXON Silent,Missense_I177T exm1651937 X 106396436 [A/C] NR_033676,NM_017681 NUP62CL,NUP62CL EXON Silent,Missense_Y166D exm1651940 X 106396456 [T/C] NR_033676,NM_017681 NUP62CL,NUP62CL EXON Silent,Missense_R159H exm1651946 X 106397450 [T/C] NR_033676,NM_017681 NUP62CL,NUP62CL EXON Silent,Missense_Y74C exm1651948 X 106410913 [A/G] NR_033676,NM_017681 NUP62CL,NUP62CL EXON Silent,Missense_F54L exm1651952 X 106410969 [A/G] NR_033676,NM_017681 NUP62CL,NUP62CL EXON Silent,Missense_T35I exm1651954 X 106418357 [C/G] NR_033676,NM_017681 NUP62CL,NUP62CL EXON Silent,Nonsense_S7X exm1651960 X 106462111 [A/G] NM_173494,NM_001169154 PIH1D3,PIH1D3 EXON Missense_E82K,Missense_E82K exm2273286 X 106933635 [T/C] exm1652139 X 107018385 [T/C] NM_198057 TSC22D3 EXON Missense_I89V exm1652181 X 107084385 [G/C] NM_012216,NM_052817 MID2,MID2 EXON Missense_R164G,Missense_R164G exm1652189 X 107097876 [A/G] NM_012216,NM_052817 MID2,MID2 EXON Missense_R253H,Missense_R253H exm1652201 X 107159291 [A/C] NM_012216,NM_052817 MID2,MID2 EXON Missense_A378D,Missense_A378D exm1652211 X 107167702 [A/G] NM_012216,NM_052817 MID2,MID2 EXON Missense_R522Q,Missense_R492Q exm1652214 X 107169363 [A/G] NM_012216,NM_052817 MID2,MID2 EXON Missense_K546R,Missense_K516R exm1652237 X 107224572 [T/C] NM_031273 TEX13B EXON Missense_G226E exm1652238 X 107224573 [C/G] NM_031273 TEX13B EXON Missense_G226R exm1652241 X 107224660 [T/C] NM_031273 TEX13B EXON Missense_G197R exm1652242 X 107224686 [A/G] NM_031273 TEX13B EXON Missense_A188V exm1652244 X 107224898 [T/C] NM_031273 TEX13B Silent exm1652245 X 107224954 [T/C] NM_031273 TEX13B EXON Missense_S135N exm1652246 X 107224957 [T/G] NM_031273 TEX13B EXON Missense_T134N exm1652247 X 107224963 [G/C] NM_031273 TEX13B EXON Missense_T132S exm1652249 X 107224976 [A/G] NM_031273 TEX13B EXON Nonsense_Q128X exm1652253 X 107225174 [C/G] NM_031273 TEX13B EXON Missense_E62Q exm1652254 X 107225206 [T/C] NM_031273 TEX13B EXON Missense_R51K exm1652256 X 107225291 [T/C] NM_031273 TEX13B EXON Missense_E23K exm1652279 X 107304707 [A/G] NM_182607,NM_001170553 VSIG1,VSIG1 EXON Silent,Missense_Q88R exm1652282 X 107310278 [A/C] NM_182607,NM_001170553 VSIG1,VSIG1 EXON Missense_A109E,Missense_A145E exm1652284 X 107310352 [A/G] NM_182607,NM_001170553 VSIG1,VSIG1 EXON Missense_V134I,Missense_V170I exm1652287 X 107315933 [A/G] NM_182607,NM_001170553 VSIG1,VSIG1 EXON Missense_V147I,Missense_V183I exm1652288 X 107315963 [A/G] NM_182607,NM_001170553 VSIG1,VSIG1 EXON Missense_I157V,Missense_I193V exm1652291 X 107316041 [A/G] NM_182607,NM_001170553 VSIG1,VSIG1 EXON Missense_V183M,Missense_V219M exm1652304 X 107320318 [A/G] NM_182607,NM_001170553 VSIG1,VSIG1 EXON Missense_M291V,Missense_M327V exm2202815 X 107320400 [T/C] NM_182607,NM_001170553 VSIG1,VSIG1 EXON Missense_P318L,Missense_P354L exm1652314 X 107320508 [A/C] NM_182607,NM_001170553 VSIG1,VSIG1 EXON Missense_T354K,Missense_T390K exm1652328 X 107331058 [T/C] NM_170750,NM_002814 PSMD10,PSMD10 EXON Missense_G129R,Missense_G129R exm1652352 X 107380364 [A/G] NM_178270,NM_052936 ATG4A,ATG4A EXON Missense_V171I,Missense_V171I exm1652353 X 107380393 [A/C] NM_178270,NM_052936 ATG4A,ATG4A EXON Missense_E180D,Missense_E180D exm1652357 X 107381188 [C/G] NM_178270,NM_052936 ATG4A,ATG4A EXON Silent,Missense_N234K exm1652358 X 107381208 [T/C] NM_178270,NM_052936 ATG4A,ATG4A EXON Silent,Missense_V241A exm1652376 X 107400354 [T/C] NM_001847,NM_033641 COL4A6,COL4A6 EXON Missense_S1651N,Missense_S1650N exm1652406 X 107406256 [A/G] NM_001847,NM_033641 COL4A6,COL4A6 EXON Missense_L1362P,Missense_L1361P exm1652407 X 107406265 [A/G] NM_001847,NM_033641 COL4A6,COL4A6 EXON Missense_S1359F,Missense_S1358F exm1652413 X 107408206 [T/C] NM_001847,NM_033641 COL4A6,COL4A6 EXON Missense_G1292R,Missense_G1291R exm1652422 X 107408648 [A/C] NM_001847,NM_033641 COL4A6,COL4A6 EXON Missense_A1255S,Missense_A1254S exm1652428 X 107413851 [T/C] NM_001847,NM_033641 COL4A6,COL4A6 EXON Missense_I1162V,Missense_I1161V exm1652430 X 107413877 [A/G] NM_001847,NM_033641 COL4A6,COL4A6 EXON Missense_I1153T,Missense_I1152T exm1652437 X 107414052 [A/G] NM_001847,NM_033641 COL4A6,COL4A6 EXON Missense_P1126S,Missense_P1125S exm1652438 X 107414078 [A/G] NM_001847,NM_033641 COL4A6,COL4A6 EXON Missense_V1117A,Missense_V1116A exm1652459 X 107418388 [T/A] NM_001847,NM_033641 COL4A6,COL4A6 EXON Missense_N964I,Missense_N963I exm1652464 X 107418907 [T/C] NM_001847,NM_033641 COL4A6,COL4A6 EXON Missense_R937H,Missense_R936H exm1652466 X 107420072 [A/C] NM_001847,NM_033641 COL4A6,COL4A6 EXON Missense_K896N,Missense_K895N exm1652468 X 107420104 [A/C] NM_001847,NM_033641 COL4A6,COL4A6 EXON Missense_V886F,Missense_V885F exm1652474 X 107422058 [T/C] NM_001847,NM_033641 COL4A6,COL4A6 EXON Missense_G792S,Missense_G791S exm1652485 X 107423837 [T/C] NM_001847,NM_033641 COL4A6,COL4A6 EXON Missense_R681Q,Missense_R680Q exm2202892 X 107430355 [A/G] NM_001847,NM_033641 COL4A6,COL4A6 EXON Missense_P642L,Missense_P641L exm1652499 X 107431169 [T/C] NM_001847,NM_033641 COL4A6,COL4A6 EXON Missense_R560Q,Missense_R559Q exm1652500 X 107431197 [T/C] NM_001847,NM_033641 COL4A6,COL4A6 EXON Missense_S551G,Missense_S550G exm1652512 X 107433643 [T/G] NM_001847,NM_033641 COL4A6,COL4A6 EXON Missense_L470I,Missense_L469I exm1652516 X 107433688 [A/G] NM_001847,NM_033641 COL4A6,COL4A6 EXON Missense_S455P,Missense_S454P exm1652521 X 107434712 [T/C] NM_001847,NM_033641 COL4A6,COL4A6 EXON Missense_Q412R,Missense_Q411R exm1652559 X 107462929 [A/G] NM_001847,NM_033641 COL4A6,COL4A6 EXON Missense_P109L,Missense_P108L exm1652561 X 107462966 [A/T] NM_001847,NM_033641 COL4A6,COL4A6 EXON Missense_M97L,Missense_M96L exm1652583 X 107811901 [T/C] NM_033380,NM_000495 COL4A5,COL4A5 EXON Missense_P107S,Missense_P107S exm1652587 X 107816826 [T/C] NM_033380,NM_000495 COL4A5,COL4A5 EXON Missense_M163T,Missense_M163T exm1652590 X 107819173 [A/G] NM_033380,NM_000495 COL4A5,COL4A5 EXON Missense_I194V,Missense_I194V exm1652615 X 107834309 [T/C] NM_033380,NM_000495 COL4A5,COL4A5 EXON Missense_P396L,Missense_P396L exm1652618 X 107834411 [A/C] NM_033380,NM_000495 COL4A5,COL4A5 EXON Missense_A430D,Missense_A430D exm1652619 X 107834453 [T/G] NM_033380,NM_000495 COL4A5,COL4A5 EXON Missense_I444S,Missense_I444S exm1652632 X 107842023 [A/G] NM_033380,NM_000495 COL4A5,COL4A5 EXON Missense_G624D,Missense_G624D exm1652634 X 107844649 [A/G] NM_033380,NM_000495 COL4A5,COL4A5 EXON Missense_I659V,Missense_I659V exm1652635 X 107844666 [T/G] NM_033380,NM_000495 COL4A5,COL4A5 EXON Missense_K664N,Missense_K664N exm1652637 X 107844691 [A/G] NM_033380,NM_000495 COL4A5,COL4A5 EXON Missense_R673G,Missense_R673G exm2202954 X 107846262 [C/G] NM_033380,NM_000495 COL4A5,COL4A5 EXON Missense_P739A,Missense_P739A exm1652643 X 107846263 [A/C] NM_033380,NM_000495 COL4A5,COL4A5 EXON Missense_P739H,Missense_P739H exm1652666 X 107865996 [T/G] NM_033380,NM_000495 COL4A5,COL4A5 EXON Missense_G953V,Missense_G953V exm1652669 X 107868941 [A/G] NM_033380,NM_000495 COL4A5,COL4A5 EXON Missense_K1008R,Missense_K1008R exm1652672 X 107869481 [T/C] NM_033380,NM_000495 COL4A5,COL4A5 EXON Missense_P1050S,Missense_P1050S exm1652673 X 107898565 [A/C] NM_033380,NM_000495 COL4A5,COL4A5 EXON Missense_E1084A,Missense_E1084A exm1652694 X 107923921 [T/C] NM_033380,NM_000495 COL4A5,COL4A5 EXON Synonymous_A1314A,Missense_R1313W exm1652701 X 107925027 [T/C] NM_033380,NM_000495 COL4A5,COL4A5 EXON Missense_S1371L,Synonymous_I1369I exm1652702 X 107929267 [C/G] NM_033380,NM_000495 COL4A5,COL4A5 EXON Missense_L1404V,Missense_T1402S exm1652705 X 107929326 [T/C] NM_033380,NM_000495 COL4A5,COL4A5 EXON Synonymous_G1423G,Missense_R1422C exm1652706 X 107929337 [T/C] NM_033380,NM_000495 COL4A5,COL4A5 EXON Missense_T1427I,Synonymous_D1425D exm1652708 X 107930749 [T/A] NM_033380,NM_000495 COL4A5,COL4A5 EXON Missense_D1447V,Synonymous_G1445G exm1652712 X 107930896 [A/G] NM_033380,NM_000495 COL4A5,COL4A5 EXON Missense_E1496G,Synonymous_G1494G exm1652716 X 107936016 [A/C] NM_033380,NM_000495 COL4A5,COL4A5 EXON Nonsense_C1518X,Missense_P1517T exm1652717 X 107938071 [T/G] NM_033380,NM_000495 COL4A5,COL4A5 EXON Synonymous_S1576S,Missense_A1575S exm1652725 X 107975887 [A/C] NM_003604 IRS4 EXON Missense_D1230Y exm1652735 X 107976103 [T/C] NM_003604 IRS4 EXON Missense_A1158T exm1652748 X 107976550 [A/C] NM_003604 IRS4 EXON Missense_A1009S exm1652760 X 107976940 [G/C] NM_003604 IRS4 EXON Missense_H879D exm2203002 X 107977468 [A/T] NM_003604 IRS4 EXON Missense_M703L exm1652773 X 107977668 [A/G] NM_003604 IRS4 EXON Missense_P636L exm1652774 X 107977701 [T/C] NM_003604 IRS4 EXON Missense_Q625R exm1652779 X 107977809 [A/C] NM_003604 IRS4 EXON Missense_G589V exm1652782 X 107977840 [T/C] NM_003604 IRS4 EXON Missense_G579S exm1652783 X 107977887 [T/C] NM_003604 IRS4 EXON Missense_R563K exm1652786 X 107978051 [T/A] NM_003604 IRS4 EXON Missense_N508K exm1652791 X 107978245 [A/G] NM_003604 IRS4 EXON Missense_R444W exm1652792 X 107978260 [T/A] NM_003604 IRS4 EXON Missense_S439C exm1652795 X 107978325 [A/G] NM_003604 IRS4 EXON Missense_P417L exm1652797 X 107978343 [T/C] NM_003604 IRS4 EXON Missense_R411Q exm1652798 X 107978377 [T/C] NM_003604 IRS4 EXON Missense_V400I exm1652813 X 107979121 [A/G] NM_003604 IRS4 EXON Nonsense_Q152X exm1652821 X 107979475 [A/G] NM_003604 IRS4 EXON Missense_L34F exm2268527 X 107983377 [A/G] exm1652836 X 108619395 [T/C] NM_001522 GUCY2F EXON Missense_G1051D exm1652840 X 108631741 [T/C] NM_001522 GUCY2F EXON Missense_R978Q exm1652841 X 108631757 [T/G] NM_001522 GUCY2F EXON Missense_P973T exm1652843 X 108631840 [T/C] NM_001522 GUCY2F EXON Missense_N945S exm2277399 X 108631890 [T/C] NM_001522 GUCY2F Silent exm1652849 X 108635249 [A/C] NM_001522 GUCY2F EXON Missense_V891G exm1652854 X 108636120 [T/C] NM_001522 GUCY2F Silent exm1652859 X 108636239 [T/C] NM_001522 GUCY2F EXON Missense_M824V exm1652860 X 108638614 [T/C] NM_001522 GUCY2F EXON Missense_E794K exm1652870 X 108641915 [A/G] NM_001522 GUCY2F EXON Missense_T713M exm1652871 X 108641924 [T/A] NM_001522 GUCY2F EXON Missense_L710Q exm1652874 X 108647653 [G/C] NM_001522 GUCY2F EXON Missense_V677L exm1652878 X 108652257 [A/C] NM_001522 GUCY2F EXON Missense_W644C exm1652880 X 108652306 [T/C] NM_001522 GUCY2F EXON Missense_R628Q exm1652893 X 108691384 [T/G] NM_001522 GUCY2F EXON Missense_N495H exm1652911 X 108696981 [A/C] NM_001522 GUCY2F EXON Missense_Q380H exm1652924 X 108708433 [A/G] NM_001522 GUCY2F EXON Missense_Y324H exm1652926 X 108708480 [T/C] NM_001522 GUCY2F EXON Missense_Y308C exm1652930 X 108708516 [T/C] NM_001522 GUCY2F EXON Missense_R296Q exm1652931 X 108708552 [A/G] NM_001522 GUCY2F EXON Missense_L284P exm1652933 X 108718452 [G/C] NM_001522 GUCY2F EXON Missense_Q238H exm1652934 X 108718478 [A/G] NM_001522 GUCY2F EXON Missense_R230W exm1652935 X 108718498 [T/C] NM_001522 GUCY2F EXON Missense_G223E exm1652936 X 108718505 [T/G] NM_001522 GUCY2F EXON Missense_T221P exm1652942 X 108718624 [T/C] NM_001522 GUCY2F EXON Missense_K181R exm1652943 X 108718645 [T/C] NM_001522 GUCY2F EXON Missense_R174Q exm1652946 X 108718687 [T/A] NM_001522 GUCY2F EXON Missense_I160N exm1652949 X 108718851 [C/G] NM_001522 GUCY2F EXON Missense_Q105H exm1652950 X 108718910 [C/G] NM_001522 GUCY2F EXON Missense_D86H exm1652952 X 108718946 [C/G] NM_001522 GUCY2F EXON Missense_V74L exm1652954 X 108719047 [C/G] NM_001522 GUCY2F EXON Missense_S40C exm1652958 X 108779154 [C/G] NM_018698 NXT2 EXON Missense_G15R exm1652962 X 108779205 [A/G] NM_018698 NXT2 EXON Missense_S32G exm1652963 X 108780174 [A/C] NM_018698,NM_001242617 NXT2,NXT2 EXON Missense_D35A,Silent exm2273177 X 108784303 [T/G] NM_018698,NM_001242617,NM_001242618 NXT2,NXT2,NXT2 Silent,Silent,Silent exm2203058 X 108868009 [A/G] NM_012282 KCNE1L EXON Missense_Y81H exm1652992 X 108868153 [A/G] NM_012282 KCNE1L EXON Missense_P33S exm1652995 X 108868163 [A/C] NM_012282 KCNE1L EXON Missense_L29F exm1653017 X 108906569 [T/C] NM_004458,NM_022977 ACSL4,ACSL4 EXON Missense_I485V,Missense_I526V exm1653023 X 108908714 [T/C] NM_004458,NM_022977 ACSL4,ACSL4 EXON Missense_Y442C,Missense_Y483C exm1653038 X 108924553 [T/C] NM_004458,NM_022977 ACSL4,ACSL4 EXON Missense_N153S,Missense_N194S exm1653051 X 108926525 [T/C] NM_004458,NM_022977 ACSL4,ACSL4 EXON Missense_H23R,Missense_H64R exm2268614 X 109137937 [A/G] exm2273178 X 109206199 [T/C] exm1653072 X 109388085 [G/C] NM_017698,NM_032227 TMEM164,TMEM164 EXON Missense_I40M,Missense_I189M exm1653084 X 109441819 [T/C] NM_015365,NM_001025580,NM_001171689 AMMECR1,AMMECR1,AMMECR1 EXON Missense_A311T,Missense_A274T,Missense_A188T exm1653089 X 109459832 [T/C] NM_015365,NM_001025580,NM_001171689 AMMECR1,AMMECR1,AMMECR1 EXON Missense_M205V,Missense_M168V,Missense_M82V exm1653149 X 109693965 [G/C] NM_020769 RGAG1 EXON Missense_Q40H exm1653150 X 109693995 [A/G] NM_020769 RGAG1 EXON Missense_I50M exm1653154 X 109694302 [A/G] NM_020769 RGAG1 EXON Missense_A153T exm1653158 X 109694468 [T/C] NM_020769 RGAG1 EXON Missense_M208T exm1653166 X 109694813 [T/C] NM_020769 RGAG1 EXON Missense_P323L exm1653169 X 109694900 [T/C] NM_020769 RGAG1 EXON Missense_T352M exm1653171 X 109694933 [T/C] NM_020769 RGAG1 EXON Missense_T363M exm1653173 X 109694953 [A/G] NM_020769 RGAG1 EXON Missense_G370R exm1653174 X 109695008 [T/C] NM_020769 RGAG1 EXON Missense_P388L exm1653187 X 109695355 [A/G] NM_020769 RGAG1 EXON Missense_A504T exm1653188 X 109695375 [A/G] NM_020769 RGAG1 EXON Missense_M510I exm1653190 X 109695418 [A/C] NM_020769 RGAG1 EXON Missense_M525L exm1653196 X 109695614 [T/C] NM_020769 RGAG1 EXON Missense_T590M exm1653202 X 109695755 [T/C] NM_020769 RGAG1 EXON Missense_S637F exm1653205 X 109695851 [T/C] NM_020769 RGAG1 EXON Missense_S669L exm1653209 X 109695953 [A/G] NM_020769 RGAG1 EXON Missense_G703E exm1653212 X 109695998 [T/C] NM_020769 RGAG1 EXON Missense_M718T exm1653220 X 109696118 [C/G] NM_020769 RGAG1 EXON Missense_T758R exm2248539 X 109696121 [T/G] NM_020769 RGAG1 EXON Missense_V759G exm1653223 X 109696174 [T/C] NM_020769 RGAG1 EXON Missense_P777S exm1653224 X 109696280 [T/C] NM_020769 RGAG1 EXON Missense_S812F exm1653230 X 109696543 [T/C] NM_020769 RGAG1 EXON Missense_P900S exm1653239 X 109696783 [A/C] NM_020769 RGAG1 EXON Missense_M980L exm1653241 X 109696873 [A/G] NM_020769 RGAG1 EXON Missense_V1010M exm1653243 X 109696883 [T/G] NM_020769 RGAG1 EXON Missense_R1013M exm1653244 X 109696886 [T/G] NM_020769 RGAG1 EXON Missense_M1014R exm1653248 X 109697051 [T/C] NM_020769 RGAG1 EXON Missense_M1069T exm1653255 X 109697237 [T/C] NM_020769 RGAG1 EXON Missense_A1131V exm1653259 X 109697443 [T/C] NM_020769 RGAG1 EXON Missense_W1200R exm1653269 X 109697804 [A/G] NM_020769 RGAG1 EXON Missense_N1320S exm1653275 X 109919491 [A/G] NM_001143983,NM_145234,NM_001143981,NM_001143982 CHRDL1,CHRDL1,CHRDL1,CHRDL1 EXON Missense_Y369H,Missense_Y447H,Missense_Y449H,Missense_Y448H exm1653290 X 109931906 [A/G] NM_001143983,NM_145234,NM_001143981,NM_001143982 CHRDL1,CHRDL1,CHRDL1,CHRDL1 EXON Missense_H222Y,Missense_H301Y,Missense_H302Y,Missense_H301Y exm1653301 X 109937495 [T/C] NM_001143983,NM_145234,NM_001143981,NM_001143982 CHRDL1,CHRDL1,CHRDL1,CHRDL1 EXON Missense_R145H,Missense_R224H,Missense_R225H,Missense_R224H exm1653302 X 109937540 [C/G] NM_001143983,NM_145234,NM_001143981,NM_001143982 CHRDL1,CHRDL1,CHRDL1,CHRDL1 EXON Missense_S130C,Missense_S209C,Missense_S210C,Missense_S209C exm1653303 X 109937543 [T/C] NM_001143983,NM_145234,NM_001143981,NM_001143982 CHRDL1,CHRDL1,CHRDL1,CHRDL1 EXON Missense_R129H,Missense_R208H,Missense_R209H,Missense_R208H exm-rs5943057 X 109939205 [T/G] NM_001143983,NM_145234,NM_001143981,NM_001143982 CHRDL1,CHRDL1,CHRDL1,CHRDL1 Silent,Silent,Silent,Silent exm1653305 X 109943904 [T/C] NM_001143983,NM_145234,NM_001143981,NM_001143982 CHRDL1,CHRDL1,CHRDL1,CHRDL1 EXON Missense_R116Q,Missense_R195Q,Missense_R196Q,Missense_R195Q exm2203141 X 109943946 [A/T] NM_001143983,NM_145234,NM_001143981,NM_001143982 CHRDL1,CHRDL1,CHRDL1,CHRDL1 EXON Missense_D102V,Missense_D181V,Missense_D182V,Missense_D181V exm1653317 X 110005943 [T/C] NM_001143983,NM_145234,NM_001143981,NM_001143982 CHRDL1,CHRDL1,CHRDL1,CHRDL1 EXON Missense_V63M,Missense_V63M,Missense_V63M,Missense_V63M exm1653329 X 110366492 [T/G] NM_001128167,NM_001128166,NM_002578,NM_001128173,NM_001128168,NM_001128172 PAK3,PAK3,PAK3,PAK3,PAK3,PAK3 EXON Missense_G54V,Missense_G54V,Missense_G54V,Missense_G54V,Missense_G54V,Missense_G54V exm2262720 X 110379807 [T/C] NM_001128167,NM_001128166,NM_002578,NM_001128173,NM_001128168,NM_001128172 PAK3,PAK3,PAK3,PAK3,PAK3,PAK3 Silent,Silent,Silent,Silent,Silent,Silent exm1653333 X 110389772 [A/G] NM_001128167,NM_001128166,NM_002578,NM_001128173,NM_001128168,NM_001128172 PAK3,PAK3,PAK3,PAK3,PAK3,PAK3 EXON Silent,Silent,Silent,Missense_M100I,Missense_M121I,Silent exm1653366 X 110463619 [A/G] NM_001128167,NM_001128166,NM_002578,NM_001128173,NM_001128168,NM_001128172 PAK3,PAK3,PAK3,PAK3,PAK3,PAK3 EXON Missense_S527G,Missense_S527G,Missense_S527G,Missense_S542G,Missense_S563G,Missense_S548G exm2262912 X 110474173 [T/G] exm1653376 X 110490607 [T/C] NM_014289 CAPN6 EXON Missense_I578V exm1653384 X 110491212 [A/G] NM_014289 CAPN6 EXON Missense_T498I exm1653397 X 110494271 [T/G] NM_014289 CAPN6 EXON Missense_N344K exm1653403 X 110494841 [C/G] NM_014289 CAPN6 EXON Missense_V277L exm1653406 X 110494859 [T/C] NM_014289 CAPN6 EXON Missense_V271I exm1653411 X 110495596 [T/A] NM_014289 CAPN6 EXON Missense_K213M exm1653416 X 110496354 [T/C] NM_014289 CAPN6 EXON Missense_E130K exm1653418 X 110496398 [T/G] NM_014289 CAPN6 EXON Missense_E115A exm1653433 X 110574222 [A/C] NM_001195553,NM_178152,NM_000555,NM_178151,NM_178153 DCX,DCX,DCX,DCX,DCX EXON Missense_A286S,Missense_A286S,Missense_A367S,Missense_A286S,Missense_A286S exm2273289 X 110649855 [T/C] NM_001195553,NM_178152,NM_000555,NM_178151,NM_178153,NR_046489 DCX,DCX,DCX,DCX,DCX,RNU6-28 Silent,Silent,Silent,Silent,Silent,Silent exm1653452 X 110654183 [T/C] NM_001195553,NM_178152,NM_000555,NM_178151,NM_178153,NR_046489 DCX,DCX,DCX,DCX,DCX,RNU6-28 EXON Silent,Silent,Missense_H7R,Silent,Silent,Silent exm1653479 X 110924459 [T/C] NM_001039210,NM_001099922,NM_001168385,NM_001257230,NR_033125,NM_018466,NM_001257240,NM_001257231,NM_001257235,NM_001257237,NM_001257241,NM_001257234 ALG13,ALG13,ALG13,ALG13,ALG13,ALG13,ALG13,ALG13,ALG13,ALG13,ALG13,ALG13 EXON Missense_F5L,Missense_F5L,Missense_F5L,Silent,Silent,Missense_F5L,Silent,Silent,Silent,Silent,Silent,Silent exm1653483 X 110925382 [A/G] NM_001039210,NM_001099922,NM_001168385,NM_001257230,NR_033125,NM_018466,NM_001257240,NM_001257231,NM_001257235,NM_001257237,NM_001257241,NM_001257234,NM_001257239 ALG13,ALG13,ALG13,ALG13,ALG13,ALG13,ALG13,ALG13,ALG13,ALG13,ALG13,ALG13,ALG13 EXON Missense_N35S,Missense_N35S,Missense_N35S,Silent,Silent,Missense_N35S,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm1653487 X 110928319 [A/G] NM_001039210,NM_001099922,NM_001168385,NM_001257230,NR_033125,NM_018466,NM_001257240,NM_001257231,NM_001257235,NM_001257237,NM_001257241,NM_001257234,NM_001257239 ALG13,ALG13,ALG13,ALG13,ALG13,ALG13,ALG13,ALG13,ALG13,ALG13,ALG13,ALG13,ALG13 EXON Synonymous_L104L,Missense_Y124C,Missense_Y124C,Missense_Y20C,Silent,Missense_Y124C,Missense_Y20C,Missense_Y46C,Missense_Y20C,Missense_Y20C,Missense_Y46C,Missense_Y20C,Missense_Y20C exm1653525 X 110970138 [T/C] NM_001099922,NM_001257230,NM_001257231,NM_001257237,NM_001257234 ALG13,ALG13,ALG13,ALG13,ALG13 EXON Missense_L611F,Missense_L507F,Missense_L533F,Missense_L507F,Missense_L507F exm1653526 X 110970141 [T/C] NM_001099922,NM_001257230,NM_001257231,NM_001257237,NM_001257234 ALG13,ALG13,ALG13,ALG13,ALG13 EXON Missense_P612S,Missense_P508S,Missense_P534S,Missense_P508S,Missense_P508S exm1653549 X 110980029 [C/G] NM_001099922,NM_001257230,NM_001257231,NM_001257237,NM_001257234 ALG13,ALG13,ALG13,ALG13,ALG13 EXON Missense_A873P,Missense_A769P,Missense_A795P,Missense_A769P,Missense_A769P exm1653551 X 110980084 [T/C] NM_001099922,NM_001257230,NM_001257231,NM_001257237,NM_001257234 ALG13,ALG13,ALG13,ALG13,ALG13 EXON Missense_S891F,Missense_S787F,Missense_S813F,Missense_S787F,Missense_S787F exm1653568 X 111000850 [A/G] NM_001099922,NM_001257230,NM_001257231,NM_001257237,NM_001257234 ALG13,ALG13,ALG13,ALG13,ALG13 EXON Missense_Y1003C,Missense_Y820C,Missense_Y925C,Missense_Y820C,Missense_Y820C exm1653579 X 111003227 [A/C] NM_001099922,NM_001257230,NM_001257231,NM_001257237,NM_001257234 ALG13,ALG13,ALG13,ALG13,ALG13 EXON Missense_X1138Y,Missense_X955Y,Missense_X1060Y,Missense_X955Y,Missense_X955Y exm1653601 X 111022233 [T/G] NM_012471 TRPC5 EXON Missense_L738I exm1653604 X 111024430 [T/C] NM_012471 TRPC5 EXON Missense_R702H exm1653605 X 111024431 [A/G] NM_012471 TRPC5 EXON Missense_R702C exm1653607 X 111025183 [A/G] NM_012471 TRPC5 EXON Missense_R694C exm1653608 X 111025192 [A/G] NM_012471 TRPC5 EXON Missense_R691W exm1653616 X 111090405 [T/G] NM_012471 TRPC5 EXON Missense_A546D exm-rs7050529 X 111155233 [A/G] NM_012471 TRPC5 Silent exm1653636 X 111155631 [T/C] NM_012471 TRPC5 EXON Missense_R263K exm1653638 X 111155722 [T/C] NM_012471 TRPC5 EXON Missense_V233M exm2268528 X 111161201 [A/G] NM_012471 TRPC5 Silent exm-rs5982533 X 111646464 [T/C] NM_001004308 ZCCHC16 Silent exm2273180 X 111680450 [T/C] NM_001004308 ZCCHC16 Silent exm1653668 X 111698032 [T/C] NM_001004308 ZCCHC16 EXON Missense_R26W exm1653669 X 111698036 [T/C] NM_001004308 ZCCHC16 EXON Missense_L27P exm1653672 X 111698114 [T/C] NM_001004308 ZCCHC16 EXON Missense_P53L exm1653673 X 111698135 [A/G] NM_001004308 ZCCHC16 EXON Missense_H60R exm1653683 X 111698405 [T/C] NM_001004308 ZCCHC16 EXON Missense_A150V exm1653684 X 111698440 [T/G] NM_001004308 ZCCHC16 EXON Missense_D162Y exm1653691 X 111698503 [T/C] NM_001004308 ZCCHC16 EXON Nonsense_Q183X exm1653693 X 111698522 [A/C] NM_001004308 ZCCHC16 EXON Missense_A189D exm1653696 X 111698566 [A/G] NM_001004308 ZCCHC16 EXON Missense_N204D exm1653698 X 111698593 [A/G] NM_001004308 ZCCHC16 EXON Missense_I213V exm1653707 X 111698828 [A/G] NM_001004308 ZCCHC16 EXON Missense_R291K exm1653716 X 111874682 [T/G] NM_178175 LHFPL1 EXON Missense_Y210S exm1653720 X 111874778 [A/G] NM_178175 LHFPL1 EXON Missense_A178V exm1653728 X 111903881 [T/C] NM_178175 LHFPL1 EXON Missense_G152E exm1653729 X 111903902 [A/G] NM_178175 LHFPL1 EXON Missense_P145L exm1653735 X 111914395 [A/G] NM_178175 LHFPL1 EXON Missense_A75V exm2203304 X 111914632 [T/C] NM_178175 LHFPL1 EXON Silent exm2203315 X 112021839 [C/G] NM_001113490,NM_133265 AMOT,AMOT EXON Missense_L1071V,Missense_L662V exm1653746 X 112022287 [A/G] NM_001113490,NM_133265 AMOT,AMOT EXON Missense_A1032V,Missense_A623V exm1653757 X 112022425 [A/G] NM_001113490,NM_133265 AMOT,AMOT EXON Missense_P986L,Missense_P577L exm1653764 X 112022498 [A/C] NM_001113490,NM_133265 AMOT,AMOT EXON Missense_S962A,Missense_S553A exm1653772 X 112022638 [A/G] NM_001113490,NM_133265 AMOT,AMOT EXON Missense_V915A,Missense_V506A exm1653777 X 112022699 [T/C] NM_001113490,NM_133265 AMOT,AMOT EXON Missense_A895T,Missense_A486T exm1653782 X 112022881 [T/G] NM_001113490,NM_133265 AMOT,AMOT EXON Missense_A834D,Missense_A425D exm1653784 X 112022894 [T/C] NM_001113490,NM_133265 AMOT,AMOT EXON Missense_G830R,Missense_G421R exm1653804 X 112035188 [C/G] NM_001113490,NM_133265 AMOT,AMOT EXON Missense_V600L,Missense_V191L exm1653810 X 112048284 [A/G] NM_001113490,NM_133265 AMOT,AMOT EXON Missense_A556V,Missense_A147V exm1653811 X 112048305 [T/C] NM_001113490,NM_133265 AMOT,AMOT EXON Missense_R549H,Missense_R140H exm1653816 X 112053212 [A/G] NM_001113490,NM_133265 AMOT,AMOT EXON Missense_R514C,Missense_R105C exm1653829 X 112058599 [C/G] NM_001113490,NM_133265 AMOT,AMOT EXON Missense_A460G,Missense_A51G exm1653832 X 112058681 [T/C] NM_001113490,NM_133265 AMOT,AMOT EXON Missense_R433G,Missense_R24G exm2273290 X 112671935 [T/C] exm2268530 X 112703796 [A/G] exm2273181 X 113328838 [T/C] exm2273182 X 113712993 [T/C] exm2262724 X 113890903 [T/C] NM_000868,NM_001256760,NM_001256761 HTR2C,HTR2C,HTR2C Silent,Silent,Silent exm2248547 X 113965766 [A/G] NM_000868,NM_001256760,NM_001256761 HTR2C,HTR2C,HTR2C EXON Missense_I33M,Missense_I33M,Missense_I33M exm1653866 X 113965791 [G/C] NM_000868,NM_001256760,NM_001256761 HTR2C,HTR2C,HTR2C EXON Missense_D42H,Missense_D42H,Missense_D42H exm1653876 X 114082728 [T/C] NM_000868,NM_001256760,NM_001256761 HTR2C,HTR2C,HTR2C EXON Missense_A171V,Missense_A171V,Silent exm2277400 X 114141154 [A/G] NM_000868,NM_001256760,NM_001256761 HTR2C,HTR2C,HTR2C EXON Missense_V185I,Missense_V185I,Missense_C153Y exm1653881 X 114141379 [A/G] NM_000868,NM_001256760,NM_001256761 HTR2C,HTR2C,HTR2C EXON Missense_S260G,Missense_S260G,Missense_K228R exm1653892 X 114141721 [A/C] NM_000868,NM_001256760,NM_001256761 HTR2C,HTR2C,HTR2C EXON Missense_I374L,Missense_I374L,Silent exm1653895 X 114141856 [A/G] NM_000868,NM_001256760,NM_001256761 HTR2C,HTR2C,HTR2C EXON Missense_T419A,Missense_T419A,Silent exm2248549 X 114239762 [T/C] NM_000640 IL13RA2 EXON Missense_M372V exm1653902 X 114239779 [C/G] NM_000640 IL13RA2 EXON Missense_P366R exm1653909 X 114244109 [A/G] NM_000640 IL13RA2 EXON Missense_I276T exm1653921 X 114249053 [A/G] NM_000640 IL13RA2 EXON Missense_W111R exm1653943 X 114357331 [A/G] NM_020871,NM_001243963 LRCH2,LRCH2 EXON Missense_P698S,Missense_P681S exm2203397 X 114384479 [T/C] NM_020871,NM_001243963 LRCH2,LRCH2 EXON Missense_D536N,Missense_D536N exm1653966 X 114414073 [T/C] NM_020871,NM_001243963 LRCH2,LRCH2 EXON Missense_E261K,Missense_E261K exm1653972 X 114424021 [A/G] NM_020871,NM_001243963,NM_001145346 LRCH2,LRCH2,RBMXL3 EXON Silent,Silent,Missense_R6H exm1653987 X 114424597 [A/G] NM_020871,NM_001243963,NM_001145346 LRCH2,LRCH2,RBMXL3 EXON Silent,Silent,Missense_R198H exm1653988 X 114424605 [A/G] NM_020871,NM_001243963,NM_001145346 LRCH2,LRCH2,RBMXL3 EXON Silent,Silent,Missense_G201S exm1653991 X 114424734 [T/C] NM_020871,NM_001243963,NM_001145346 LRCH2,LRCH2,RBMXL3 EXON Silent,Silent,Missense_P244S exm1653993 X 114424836 [A/G] NM_020871,NM_001243963,NM_001145346 LRCH2,LRCH2,RBMXL3 EXON Silent,Silent,Missense_D278N exm1654001 X 114424933 [T/C] NM_020871,NM_001243963,NM_001145346 LRCH2,LRCH2,RBMXL3 EXON Silent,Silent,Missense_P310L exm1654002 X 114424941 [A/G] NM_020871,NM_001243963,NM_001145346 LRCH2,LRCH2,RBMXL3 EXON Silent,Silent,Missense_A313T exm1654023 X 114425284 [A/G] NM_020871,NM_001243963,NM_001145346 LRCH2,LRCH2,RBMXL3 EXON Silent,Silent,Missense_R427Q exm1654038 X 114425508 [A/G] NM_020871,NM_001243963,NM_001145346 LRCH2,LRCH2,RBMXL3 EXON Silent,Silent,Missense_D502N exm1654039 X 114425577 [T/C] NM_020871,NM_001243963,NM_001145346 LRCH2,LRCH2,RBMXL3 EXON Silent,Silent,Missense_R525C exm1654043 X 114425628 [A/G] NM_020871,NM_001243963,NM_001145346 LRCH2,LRCH2,RBMXL3 EXON Silent,Silent,Missense_G542S exm1654073 X 114426193 [A/G] NM_020871,NM_001243963,NM_001145346 LRCH2,LRCH2,RBMXL3 EXON Silent,Silent,Missense_R730Q exm1654078 X 114426292 [A/G] NM_020871,NM_001243963,NM_001145346 LRCH2,LRCH2,RBMXL3 EXON Silent,Silent,Missense_G763D exm1654085 X 114426385 [A/G] NM_020871,NM_001243963,NM_001145346 LRCH2,LRCH2,RBMXL3 EXON Silent,Silent,Missense_R794H exm1654095 X 114426765 [T/C] NM_020871,NM_001243963,NM_001145346 LRCH2,LRCH2,RBMXL3 EXON Silent,Silent,Missense_P921S exm1654126 X 114524333 [C/G] NM_016383 LUZP4 EXON Missense_S3W exm1654127 X 114524338 [T/C] NM_016383 LUZP4 EXON Missense_R5W exm1654128 X 114524365 [T/C] NM_016383 LUZP4 EXON Missense_P14S exm1654141 X 114540789 [A/G] NM_016383 LUZP4 EXON Missense_Y121C exm1654154 X 114541058 [T/G] NM_016383 LUZP4 EXON Missense_S211A exm1654160 X 114541125 [A/G] NM_016383 LUZP4 EXON Missense_R233H exm1654168 X 114541230 [T/C] NM_016383 LUZP4 EXON Missense_A268V exm1654169 X 114541247 [A/G] NM_016383 LUZP4 EXON Missense_I274V exm1654174 X 114541277 [G/C] NM_016383 LUZP4 EXON Missense_E284Q exm1654176 X 114541329 [A/G] NM_016383 LUZP4 EXON Missense_H301R exm1654177 X 114541343 [A/G] NM_016383 LUZP4 EXON Missense_T306A exm2262922 X 114763744 [A/G] exm1654200 X 114874753 [A/G] NM_005032,NM_001172335,NM_001136025 PLS3,PLS3,PLS3 EXON Missense_I309V,Missense_I282V,Missense_I309V exm1654206 X 114879367 [T/C] NM_005032,NM_001172335,NM_001136025 PLS3,PLS3,PLS3 EXON Missense_R404C,Missense_R377C,Missense_R404C exm-rs1403543 X 115302192 [A/G] NM_000686 AGTR2 Silent exm1654229 X 115303595 [T/G] NM_000686 AGTR2 EXON Missense_G21V exm1654232 X 115303744 [A/T] NM_000686 AGTR2 EXON Missense_C71S exm1654234 X 115303764 [T/G] NM_000686 AGTR2 EXON Missense_K77N exm1654241 X 115303946 [T/C] NM_000686 AGTR2 EXON Missense_M138T exm2277401 X 115304224 [T/C] NM_000686 AGTR2 EXON Missense_Y231H exm1654252 X 115304276 [A/G] NM_000686 AGTR2 EXON Missense_R248K exm2248554 X 115304285 [A/G] NM_000686 AGTR2 EXON Missense_R251H exm1654260 X 115304504 [A/G] NM_000686 AGTR2 EXON Missense_R324Q exm1654262 X 115304558 [A/G] NM_000686 AGTR2 EXON Missense_G342E exm2268533 X 115304830 [A/G] NM_000686 AGTR2 EXON Silent exm2268617 X 115551211 [A/G] exm1654284 X 115576174 [A/G] NM_007231 SLC6A14 EXON Missense_I249V exm1654289 X 115582656 [T/G] NM_007231 SLC6A14 EXON Missense_W327L exm1654299 X 115585601 [T/C] NM_007231 SLC6A14 EXON Missense_V466A exm1654305 X 115588880 [A/C] NM_007231 SLC6A14 EXON Missense_I574L exm1654309 X 115590105 [A/G] NM_007231 SLC6A14 EXON Missense_S638N exm1654312 X 115592915 [A/G] NM_001017978 CXorf61 EXON Missense_S112F exm1654315 X 115592993 [T/A] NM_001017978 CXorf61 EXON Missense_M86K exm2273184 X 116607121 [T/C] exm2273292 X 116717986 [T/G] exm2262927 X 116998503 [A/G] exm1654355 X 117043848 [G/C] NM_001168299,NM_001168301,NM_001168300,NM_033495,NM_001168303,NM_001168302 KLHL13,KLHL13,KLHL13,KLHL13,KLHL13,KLHL13 EXON Missense_T264S,Missense_T245S,Missense_T255S,Missense_T261S,Missense_T219S,Missense_T245S exm-rs2430212 X 117088056 [T/C] NM_001168299,NM_001168301,NM_001168300,NM_033495,NM_001168303,NM_001168302 KLHL13,KLHL13,KLHL13,KLHL13,KLHL13,KLHL13 Silent,Silent,Silent,Silent,Silent,Silent exm1654389 X 117480539 [A/G] NM_001184965,NM_019045,NM_001184966 WDR44,WDR44,WDR44 EXON Missense_V25M,Missense_V25M,Missense_V25M exm1654396 X 117526710 [A/G] NM_001184965,NM_019045,NM_001184966 WDR44,WDR44,WDR44 EXON Missense_R101K,Missense_R101K,Missense_R76K exm1654399 X 117526747 [A/G] NM_001184965,NM_019045,NM_001184966 WDR44,WDR44,WDR44 EXON Missense_I113M,Missense_I113M,Missense_I88M exm1654402 X 117526872 [T/C] NM_001184965,NM_019045,NM_001184966 WDR44,WDR44,WDR44 EXON Missense_T155M,Missense_T155M,Missense_T130M exm1654417 X 117528056 [A/G] NM_001184965,NM_019045,NM_001184966 WDR44,WDR44,WDR44 EXON Missense_A289T,Missense_A289T,Missense_A264T exm1654426 X 117540958 [A/G] NM_001184965,NM_019045,NM_001184966 WDR44,WDR44,WDR44 EXON Missense_K501R,Missense_K501R,Missense_K476R exm1654446 X 117578424 [G/C] NM_001184965,NM_019045,NM_001184966 WDR44,WDR44,WDR44 EXON Missense_E864Q,Missense_E872Q,Missense_E783Q exm2262728 X 117599914 [A/G] exm2264769 X 117647701 [A/C] NM_144658 DOCK11 Silent exm1654456 X 117676910 [T/C] NM_144658 DOCK11 EXON Missense_R81C exm1654472 X 117700023 [A/G] NM_144658 DOCK11 EXON Missense_H250R exm1654476 X 117700127 [A/G] NM_144658 DOCK11 EXON Missense_T285A exm1654510 X 117727283 [A/G] NM_144658 DOCK11 EXON Missense_D749G exm2203573 X 117731469 [A/G] NM_144658 DOCK11 EXON Missense_N780S exm1654513 X 117731477 [T/C] NM_144658 DOCK11 EXON Missense_P783S exm1654519 X 117732044 [T/A] NM_144658 DOCK11 EXON Missense_I813F exm1654522 X 117733154 [T/C] NM_144658 DOCK11 EXON Missense_S842L exm1654524 X 117739235 [A/G] NM_144658 DOCK11 EXON Missense_Q866R exm1654548 X 117758593 [A/G] NM_144658 DOCK11 EXON Missense_Y1188C exm1654549 X 117758601 [T/G] NM_144658 DOCK11 EXON Missense_A1191S exm1654555 X 117762197 [A/G] NM_144658 DOCK11 EXON Missense_A1246T exm1654556 X 117764379 [A/G] NM_144658 DOCK11 EXON Missense_Y1271C exm1654578 X 117788757 [A/G] NM_144658 DOCK11 EXON Missense_V1630I exm1654579 X 117788769 [G/C] NM_144658 DOCK11 EXON Missense_D1634H exm1654581 X 117788888 [A/G] NM_144658 DOCK11 EXON Missense_V1645I exm2203606 X 117796697 [T/C] NM_144658 DOCK11 EXON Missense_I1673T exm1654590 X 117805080 [T/C] NM_144658 DOCK11 EXON Missense_P1724L exm1654591 X 117805094 [T/C] NM_144658 DOCK11 EXON Missense_R1729C exm1654594 X 117809966 [A/G] NM_144658 DOCK11 EXON Missense_K1756R exm1654597 X 117810666 [T/C] NM_144658 DOCK11 EXON Missense_T1809M exm2248557 X 117819764 [A/T] NM_144658 DOCK11 EXON Missense_E2072D exm1654623 X 117883680 [A/G] NM_001560 IL13RA1 EXON Missense_K143E exm1654624 X 117883708 [A/C] NM_001560 IL13RA1 EXON Missense_T152N exm1654627 X 117892133 [A/G] NM_001560 IL13RA1 EXON Missense_V202I exm1654630 X 117892202 [A/C] NM_001560 IL13RA1 EXON Missense_R225S exm1654636 X 117900887 [A/C] NM_001560 IL13RA1 EXON Missense_L319F exm1654639 X 117907850 [T/C] NM_001560 IL13RA1 EXON Missense_R340C exm1654646 X 117925725 [T/C] NM_001560 IL13RA1 EXON Missense_H398Y exm1654647 X 117925740 [A/G] NM_001560 IL13RA1 EXON Missense_D403N exm1654653 X 117959226 [T/C] NM_173798 ZCCHC12 EXON Missense_R7C exm1654656 X 117959307 [A/G] NM_173798 ZCCHC12 EXON Missense_G34S exm1654670 X 117959901 [A/C] NM_173798 ZCCHC12 EXON Missense_P232T exm1654671 X 117959929 [C/G] NM_173798 ZCCHC12 EXON Missense_R241T exm1654684 X 117960412 [T/G] NM_173798 ZCCHC12 EXON Missense_L402R exm2264770 X 117973846 [A/C] exm1654709 X 118109312 [C/G] NM_001031855,NM_024778 LONRF3,LONRF3 EXON Missense_R190P,Missense_R190P exm1654723 X 118123491 [G/C] NM_001031855,NM_024778 LONRF3,LONRF3 EXON Missense_Q394E,Missense_Q353E exm1654724 X 118123513 [T/G] NM_001031855,NM_024778 LONRF3,LONRF3 EXON Missense_W401L,Missense_W360L exm1654732 X 118124442 [T/C] NM_001031855,NM_024778 LONRF3,LONRF3 EXON Missense_T445I,Missense_T404I exm2248559 X 118151505 [T/C] NM_001031855,NM_024778 LONRF3,LONRF3 EXON Missense_P711L,Missense_P670L exm1654763 X 118219347 [T/C] NM_020721 KIAA1210 EXON Missense_E1616G exm1654767 X 118220508 [T/C] NM_020721 KIAA1210 Silent exm1654771 X 118220656 [T/C] NM_020721 KIAA1210 EXON Missense_G1513S exm1654772 X 118220676 [T/C] NM_020721 KIAA1210 EXON Missense_G1506D exm1654773 X 118220679 [A/G] NM_020721 KIAA1210 EXON Missense_S1505L exm1654776 X 118220736 [A/G] NM_020721 KIAA1210 EXON Missense_S1486L exm1654784 X 118220986 [A/C] NM_020721 KIAA1210 EXON Missense_A1403S exm1654787 X 118221057 [A/G] NM_020721 KIAA1210 EXON Missense_S1379F exm2248560 X 118221103 [C/G] NM_020721 KIAA1210 EXON Missense_H1364D exm1654789 X 118221112 [T/C] NM_020721 KIAA1210 EXON Missense_G1361S exm1654795 X 118221198 [T/C] NM_020721 KIAA1210 EXON Missense_H1332R exm2203713 X 118221283 [A/G] NM_020721 KIAA1210 EXON Missense_P1304S exm1654796 X 118221318 [A/G] NM_020721 KIAA1210 EXON Missense_L1292P exm1654800 X 118221552 [T/C] NM_020721 KIAA1210 EXON Missense_G1214D exm1654801 X 118221605 [G/C] NM_020721 KIAA1210 EXON Missense_F1196L exm1654802 X 118221648 [A/G] NM_020721 KIAA1210 EXON Missense_T1182I exm1654803 X 118221675 [T/C] NM_020721 KIAA1210 EXON Missense_R1173Q exm1654805 X 118221771 [T/C] NM_020721 KIAA1210 EXON Missense_R1141Q exm1654811 X 118222099 [A/G] NM_020721 KIAA1210 EXON Missense_R1032W exm1654815 X 118222233 [T/C] NM_020721 KIAA1210 EXON Missense_C987Y exm1654818 X 118222290 [T/C] NM_020721 KIAA1210 EXON Missense_K968R exm1654821 X 118222360 [A/T] NM_020721 KIAA1210 EXON Missense_I945F exm1654823 X 118222375 [T/C] NM_020721 KIAA1210 EXON Missense_D940N exm1654828 X 118222566 [A/C] NM_020721 KIAA1210 EXON Missense_R876I exm1654831 X 118222601 [T/A] NM_020721 KIAA1210 EXON Missense_D864E exm1654832 X 118222608 [C/G] NM_020721 KIAA1210 EXON Missense_T862S exm1654833 X 118222638 [T/G] NM_020721 KIAA1210 EXON Missense_E852A exm1654835 X 118222663 [C/G] NM_020721 KIAA1210 EXON Missense_P844A exm1654841 X 118222829 [G/C] NM_020721 KIAA1210 EXON Missense_E788D exm1654850 X 118223122 [T/C] NM_020721 KIAA1210 EXON Missense_A691T exm1654858 X 118223548 [T/C] NM_020721 KIAA1210 EXON Missense_G549R exm1654859 X 118223586 [T/C] NM_020721 KIAA1210 EXON Missense_R536K exm1654861 X 118223626 [A/G] NM_020721 KIAA1210 EXON Missense_R523W exm1654872 X 118228056 [A/G] NM_020721 KIAA1210 EXON Missense_R424C exm1654874 X 118230468 [A/G] NM_020721 KIAA1210 EXON Missense_L419F exm1654877 X 118230509 [T/C] NM_020721 KIAA1210 EXON Missense_R405H exm1654886 X 118230653 [T/C] NM_020721 KIAA1210 EXON Missense_S357N exm1654888 X 118239010 [A/G] NM_020721 KIAA1210 EXON Missense_S338L exm1654894 X 118242332 [T/C] NM_020721 KIAA1210 EXON Missense_A294T exm2203746 X 118242415 [A/G] NM_020721 KIAA1210 EXON Missense_T266I exm1654897 X 118250487 [T/C] NM_020721 KIAA1210 EXON Missense_V208I exm1654903 X 118250601 [T/G] NM_020721 KIAA1210 EXON Missense_L170I exm1654904 X 118257554 [T/C] NM_020721 KIAA1210 EXON Missense_G158S exm1654906 X 118281538 [A/C] NM_020721 KIAA1210 EXON Missense_G103V exm1654908 X 118284367 [T/C] NM_020721 KIAA1210 EXON Missense_E59G exm1654913 X 118284520 [A/C] NM_020721 KIAA1210 EXON Missense_R8L exm2203765 X 118370441 [A/G] NM_006667 PGRMC1 EXON Missense_I39V exm1654922 X 118370489 [A/G] NM_006667 PGRMC1 EXON Missense_G55S exm1654930 X 118377123 [A/G] NM_006667 PGRMC1 EXON Missense_H165R exm2203771 X 118377162 [T/C] NM_006667 PGRMC1 EXON Missense_T178I exm1654952 X 118540475 [A/G] NM_145305 SLC25A43 EXON Missense_I110V exm1654958 X 118544221 [T/C] NM_145305 SLC25A43 EXON Nonsense_R196X exm1654966 X 118586090 [T/C] NM_145305 SLC25A43 EXON Missense_T270I exm1654971 X 118586969 [T/C] NM_145305 SLC25A43 EXON Nonsense_R323X exm1654972 X 118586970 [A/G] NM_145305 SLC25A43 EXON Missense_R323Q exm1654974 X 118587003 [T/C] NM_145305 SLC25A43 EXON Missense_P334L exm2203788 X 118603644 [T/G] NM_001152 SLC25A5 EXON Missense_Q44H exm1654990 X 118603864 [A/G] NM_001152 SLC25A5 EXON Missense_A118T exm2264771 X 118667854 [A/C] exm1655043 X 118694310 [A/G] NM_001170570,NM_001170569,NM_022101 CXorf56,CXorf56,CXorf56 EXON Missense_R55W,Missense_R6W,Missense_R55W exm1655080 X 118724505 [C/G] NM_001173488,NM_017544,NM_001173487 NKRF,NKRF,NKRF EXON Missense_L295V,Missense_L295V,Missense_L310V exm1655082 X 118724538 [A/G] NM_001173488,NM_017544,NM_001173487 NKRF,NKRF,NKRF EXON Missense_R284W,Missense_R284W,Missense_R299W exm1655085 X 118724706 [T/C] NM_001173488,NM_017544,NM_001173487 NKRF,NKRF,NKRF EXON Missense_D228N,Missense_D228N,Missense_D243N exm1655094 X 118724855 [A/G] NM_001173488,NM_017544,NM_001173487 NKRF,NKRF,NKRF EXON Missense_T178M,Missense_T178M,Missense_T193M exm1655117 X 118763453 [A/G] NM_145802,NM_145800,NM_015129,NM_145799 SEPT6,SEPT6,SEPT6,SEPT6 EXON Missense_R370C,Missense_R370C,Missense_R370C,Missense_R370C exm1655126 X 118771122 [T/C] NM_145802,NM_145800,NM_015129,NM_145799 SEPT6,SEPT6,SEPT6,SEPT6 EXON Missense_R275Q,Missense_R275Q,Missense_R275Q,Missense_R275Q exm1655154 X 118809610 [A/G] NM_145802,NM_145800,NM_015129,NM_145799 SEPT6,SEPT6,SEPT6,SEPT6 EXON Missense_P18S,Missense_P18S,Missense_P18S,Missense_P18S exm2268619 X 118829967 [A/G] exm1655168 X 118893390 [A/G] NM_001105576 SOWAHD EXON Missense_T254A exm1655198 X 118971901 [T/C] NM_080632,NM_023010 UPF3B,UPF3B EXON Missense_R374H,Missense_R361H exm1655199 X 118971904 [T/C] NM_080632,NM_023010 UPF3B,UPF3B EXON Missense_R373H,Missense_R360H exm1655201 X 118971921 [G/C] NM_080632,NM_023010 UPF3B,UPF3B EXON Missense_K367N,Missense_K354N exm1655207 X 118975082 [T/C] NM_080632,NM_023010 UPF3B,UPF3B EXON Missense_R255K,Missense_R255K exm1655211 X 118975179 [T/C] NM_080632,NM_023010 UPF3B,UPF3B EXON Missense_I223V,Missense_I223V exm1655225 X 118986746 [A/G] NM_080632,NM_023010 UPF3B,UPF3B EXON Missense_A49V,Missense_A49V exm1655233 X 119004571 [T/C] NM_006978 RNF113A EXON Missense_D336N exm1655237 X 119004814 [T/C] NM_006978 RNF113A EXON Missense_D255N exm1655239 X 119004852 [T/C] NM_006978 RNF113A EXON Missense_G242D exm1655255 X 119005292 [T/A] NM_006978 RNF113A EXON Missense_S95R exm1655264 X 119005951 [T/C] NM_004541 NDUFA1 EXON Missense_I26T exm1655265 X 119005968 [C/G] NM_004541 NDUFA1 EXON Missense_G32R exm1655272 X 119037260 [T/C] NM_178813,NM_001008534,NM_001008535 AKAP14,AKAP14,AKAP14 EXON Missense_P25L,Missense_P25L,Missense_P25L exm1655286 X 119048786 [G/C] NM_178813,NM_001008534 AKAP14,AKAP14 EXON Missense_A129G,Silent exm1655289 X 119048840 [T/C] NM_178813,NM_001008534 AKAP14,AKAP14 EXON Missense_P147L,Silent exm2203889 X 119066075 [T/C] NM_024528 NKAP EXON Missense_R281Q exm1655309 X 119070370 [T/C] NM_024528 NKAP EXON Missense_R188H exm1655322 X 119077274 [T/C] NM_024528 NKAP EXON Missense_V99I exm2273185 X 119156889 [T/C] exm2277402 X 119243176 [C/G] NM_139282 RHOXF1 EXON Missense_D177H exm1655359 X 119243190 [T/C] NM_139282 RHOXF1 EXON Missense_R172H exm1655361 X 119243199 [T/C] NM_139282 RHOXF1 EXON Missense_N169S exm1655377 X 119249729 [C/G] NM_139282 RHOXF1 EXON Missense_S15T exm1655425 X 119387688 [T/C] NM_006777,NM_001184742 ZBTB33,ZBTB33 EXON Missense_P140S,Missense_P140S exm1655427 X 119387701 [A/G] NM_006777,NM_001184742 ZBTB33,ZBTB33 EXON Missense_D144G,Missense_D144G exm1655432 X 119387923 [T/A] NM_006777,NM_001184742 ZBTB33,ZBTB33 EXON Missense_Q218L,Missense_Q218L exm1655433 X 119387940 [A/G] NM_006777,NM_001184742 ZBTB33,ZBTB33 EXON Missense_V224I,Missense_V224I exm1655434 X 119387946 [A/G] NM_006777,NM_001184742 ZBTB33,ZBTB33 EXON Missense_I226V,Missense_I226V exm1655436 X 119388050 [A/C] NM_006777,NM_001184742 ZBTB33,ZBTB33 EXON Missense_Q260H,Missense_Q260H exm1655443 X 119388489 [A/G] NM_006777,NM_001184742 ZBTB33,ZBTB33 EXON Missense_K407E,Missense_K407E exm1655445 X 119388696 [A/G] NM_006777,NM_001184742 ZBTB33,ZBTB33 EXON Missense_M476V,Missense_M476V exm1655449 X 119389090 [T/G] NM_006777,NM_001184742 ZBTB33,ZBTB33 EXON Missense_I607S,Missense_I607S exm2203936 X 119389143 [A/C] NM_006777,NM_001184742 ZBTB33,ZBTB33 EXON Missense_P625T,Missense_P625T exm1655458 X 119394822 [A/G] NM_001104544,NM_001104545,NM_017938 TMEM255A,TMEM255A,TMEM255A EXON Missense_S294F,Missense_S210F,Missense_S318F exm1655463 X 119402161 [A/G] NM_001104544,NM_001104545,NM_017938 TMEM255A,TMEM255A,TMEM255A EXON Missense_S253P,Missense_S169P,Missense_S277P exm1655468 X 119419033 [A/G] NM_001104544,NM_001104545,NM_017938 TMEM255A,TMEM255A,TMEM255A EXON Missense_P154L,Silent,Missense_P178L exm1655471 X 119419501 [T/G] NM_001104544,NM_001104545,NM_017938 TMEM255A,TMEM255A,TMEM255A EXON Silent,Silent,Missense_N158K exm1655473 X 119419517 [G/C] NM_001104544,NM_001104545,NM_017938 TMEM255A,TMEM255A,TMEM255A EXON Silent,Silent,Missense_T153R exm2203950 X 119419518 [T/G] NM_001104544,NM_001104545,NM_017938 TMEM255A,TMEM255A,TMEM255A EXON Silent,Silent,Missense_T153P exm1655474 X 119419524 [A/G] NM_001104544,NM_001104545,NM_017938 TMEM255A,TMEM255A,TMEM255A EXON Silent,Silent,Missense_P151S exm1655511 X 119504584 [A/G] NM_001142447,NM_012069 ATP1B4,ATP1B4 EXON Missense_I115V,Missense_I111V exm1655514 X 119504986 [T/G] NM_001142447,NM_012069 ATP1B4,ATP1B4 EXON Missense_H161Q,Missense_H157Q exm1655518 X 119509272 [T/C] NM_001142447,NM_012069 ATP1B4,ATP1B4 EXON Missense_P203L,Missense_P199L exm1655525 X 119509421 [T/C] NM_001142447,NM_012069 ATP1B4,ATP1B4 EXON Missense_R253W,Missense_R249W exm1655528 X 119510247 [T/C] NM_001142447,NM_012069 ATP1B4,ATP1B4 EXON Missense_R258C,Missense_R254C exm1655532 X 119513337 [A/T] NM_001142447,NM_012069 ATP1B4,ATP1B4 EXON Missense_T308S,Missense_T304S exm1655537 X 119513452 [T/C] NM_001142447,NM_012069 ATP1B4,ATP1B4 EXON Missense_V346A,Missense_V342A exm2268620 X 119516903 [A/G] NM_001142447,NM_012069 ATP1B4,ATP1B4 EXON Silent,Silent exm1655547 X 119565269 [A/G] NM_002294,NM_001122606 LAMP2,LAMP2 EXON Missense_V381A,Silent exm1655549 X 119573071 [T/C] NM_002294,NM_001122606,NM_013995 LAMP2,LAMP2,LAMP2 EXON Silent,Silent,Missense_V391I exm1655557 X 119576455 [A/G] NM_002294,NM_001122606,NM_013995 LAMP2,LAMP2,LAMP2 EXON Synonymous_S309S,Synonymous_S309S,Synonymous_S309S exm2203987 X 119576486 [A/G] NM_002294,NM_001122606,NM_013995 LAMP2,LAMP2,LAMP2 EXON Missense_V299A,Missense_V299A,Missense_V299A exm1655565 X 119580269 [A/C] NM_002294,NM_001122606,NM_013995 LAMP2,LAMP2,LAMP2 EXON Missense_I252S,Missense_I252S,Missense_I252S exm1655567 X 119581776 [T/C] NM_002294,NM_001122606,NM_013995 LAMP2,LAMP2,LAMP2 EXON Missense_G221R,Missense_G221R,Missense_G221R exm1655568 X 119581851 [T/A] NM_002294,NM_001122606,NM_013995 LAMP2,LAMP2,LAMP2 EXON Missense_T196S,Missense_T196S,Missense_T196S exm1655571 X 119582909 [T/C] NM_002294,NM_001122606,NM_013995 LAMP2,LAMP2,LAMP2 EXON Missense_T158A,Missense_T158A,Missense_T158A exm1655620 X 119708408 [T/C] NM_003588 CUL4B EXON Missense_G22D exm1655622 X 119708421 [T/C] NM_003588 CUL4B EXON Missense_T18A exm1655629 X 119739320 [T/G] NM_014060,NM_001137554 MCTS1,MCTS1 EXON Missense_G24C,Missense_G25C exm1655632 X 119739984 [A/G] NM_014060,NM_001137554 MCTS1,MCTS1 EXON Missense_R72K,Missense_R73K exm1655644 X 119760356 [G/C] NM_001011551,NM_152692 C1GALT1C1,C1GALT1C1 EXON Missense_Q222H,Missense_Q222H exm1655651 X 119760594 [A/G] NM_001011551,NM_152692 C1GALT1C1,C1GALT1C1 EXON Missense_A143V,Missense_A143V exm1655652 X 119760629 [A/T] NM_001011551,NM_152692 C1GALT1C1,C1GALT1C1 EXON Missense_D131E,Missense_D131E exm1655654 X 119760720 [T/C] NM_001011551,NM_152692 C1GALT1C1,C1GALT1C1 EXON Missense_S101N,Missense_S101N exm1655658 X 119760814 [A/G] NM_001011551,NM_152692 C1GALT1C1,C1GALT1C1 EXON Missense_Y70H,Missense_Y70H exm1655660 X 119760886 [T/C] NM_001011551,NM_152692 C1GALT1C1,C1GALT1C1 EXON Missense_A46T,Missense_A46T exm2204045 X 119760952 [T/C] NM_001011551,NM_152692 C1GALT1C1,C1GALT1C1 EXON Missense_M24V,Missense_M24V exm2273186 X 119880979 [T/C] exm1655731 X 120181998 [A/C] NM_012084 GLUD2 EXON Missense_T154P exm1655740 X 120182425 [T/C] NM_012084 GLUD2 EXON Missense_T296I exm1655747 X 120182715 [A/G] NM_012084 GLUD2 EXON Missense_A393T exm1655750 X 120182779 [A/G] NM_012084 GLUD2 EXON Missense_D414G exm1655758 X 120183030 [T/G] NM_012084 GLUD2 EXON Missense_S498A exm1655763 X 120183085 [A/G] NM_012084 GLUD2 EXON Missense_R516H exm2262732 X 120270432 [T/C] exm2268536 X 121138020 [A/G] exm2262733 X 121412968 [A/G] exm2273188 X 121854516 [T/C] exm2262734 X 122315469 [T/C] exm1655790 X 122387282 [A/G] NM_000828,NM_007325 GRIA3,GRIA3 EXON Missense_A133T,Missense_A133T exm1655808 X 122536930 [A/C] NM_000828,NM_007325 GRIA3,GRIA3 EXON Missense_K389T,Missense_K389T exm1655810 X 122536945 [A/G] NM_000828,NM_007325 GRIA3,GRIA3 EXON Missense_R394Q,Missense_R394Q exm2273189 X 122582923 [T/C] NM_000828,NM_007325 GRIA3,GRIA3 Silent,Silent exm2268622 X 122670073 [A/G] exm2204086 X 122755179 [T/C] NM_001081550 THOC2 EXON Missense_A1349T exm1655920 X 122761564 [T/C] NM_001081550 THOC2 EXON Missense_I913V exm1655937 X 122779186 [A/G] NM_001081550 THOC2 EXON Missense_T476M exm2204111 X 122799618 [T/C] NM_001081550 THOC2 EXON Missense_A421T exm1655982 X 123020195 [T/G] NM_001204401,NR_037916,NM_001167 XIAP,XIAP,XIAP EXON Missense_F228C,Silent,Missense_F228C exm1655983 X 123020200 [A/G] NM_001204401,NR_037916,NM_001167 XIAP,XIAP,XIAP EXON Missense_V230I,Silent,Missense_V230I exm1655985 X 123020281 [C/G] NM_001204401,NR_037916,NM_001167 XIAP,XIAP,XIAP EXON Missense_P257A,Silent,Missense_P257A exm2204141 X 123034343 [A/G] NM_001204401,NR_037916,NM_001167 XIAP,XIAP,XIAP EXON Missense_D367G,Silent,Missense_D367G exm1655995 X 123034511 [A/C] NM_001204401,NR_037916,NM_001167 XIAP,XIAP,XIAP EXON Missense_Q423P,Silent,Missense_Q423P exm1656005 X 123171423 [T/C] NM_001042749,NM_006603,NM_001042750,NM_001042751 STAG2,STAG2,STAG2,STAG2 EXON Missense_I112T,Missense_I112T,Missense_I112T,Missense_I112T exm1656058 X 123220521 [A/G] NM_001042749,NM_006603,NM_001042750,NM_001042751 STAG2,STAG2,STAG2,STAG2 EXON Missense_I1060V,Missense_I1060V,Missense_I1060V,Missense_I1060V exm2204184 X 123229296 [A/T] NM_001042749,NM_006603,NM_001042750,NM_001042751 STAG2,STAG2,STAG2,STAG2 EXON Missense_E1260D,Missense_E1223D,Missense_E1260D,Missense_E1223D exm2268537 X 123283980 [A/G] exm1656081 X 123480499 [T/G] NM_001114937,NM_002351 SH2D1A,SH2D1A EXON Missense_A3S,Missense_A3S exm1656085 X 123480610 [A/G] NM_001114937,NM_002351 SH2D1A,SH2D1A EXON Missense_V40M,Missense_V40M exm1656094 X 123514429 [T/C] NM_001163278,NM_014253,NM_001163279 TENM1,TENM1,TENM1 EXON Missense_N2719S,Missense_N2712S,Missense_N2718S exm1656104 X 123515038 [A/C] NM_001163278,NM_014253,NM_001163279 TENM1,TENM1,TENM1 EXON Missense_G2516V,Missense_G2509V,Missense_G2515V exm2204200 X 123518026 [C/G] NM_001163278,NM_014253,NM_001163279 TENM1,TENM1,TENM1 EXON Missense_T2252S,Missense_T2245S,Missense_T2251S exm1656124 X 123518198 [T/C] NM_001163278,NM_014253,NM_001163279 TENM1,TENM1,TENM1 EXON Missense_S2195G,Missense_S2188G,Missense_S2194G exm1656126 X 123518206 [A/T] NM_001163278,NM_014253,NM_001163279 TENM1,TENM1,TENM1 EXON Missense_H2192L,Missense_H2185L,Missense_H2191L exm1656127 X 123518211 [T/A] NM_001163278,NM_014253,NM_001163279 TENM1,TENM1,TENM1 EXON Missense_L2190F,Missense_L2183F,Missense_L2189F exm1656141 X 123519727 [T/C] NM_001163278,NM_014253,NM_001163279 TENM1,TENM1,TENM1 EXON Missense_R1959Q,Missense_R1952Q,Missense_R1958Q exm1656156 X 123538971 [A/C] NM_001163278,NM_014253,NM_001163279 TENM1,TENM1,TENM1 EXON Missense_L1767F,Missense_L1760F,Missense_L1766F exm1656168 X 123540229 [T/C] NM_001163278,NM_014253,NM_001163279 TENM1,TENM1,TENM1 EXON Missense_R1698H,Missense_R1691H,Missense_R1697H exm1656180 X 123554333 [T/G] NM_001163278,NM_014253,NM_001163279 TENM1,TENM1,TENM1 EXON Missense_P1604T,Missense_P1597T,Missense_P1603T exm1656183 X 123554390 [T/C] NM_001163278,NM_014253,NM_001163279 TENM1,TENM1,TENM1 EXON Missense_A1585T,Missense_A1578T,Missense_A1584T exm2204222 X 123556236 [T/C] NM_001163278,NM_014253,NM_001163279 TENM1,TENM1,TENM1 EXON Missense_E1453K,Missense_E1446K,Missense_E1452K exm2262737 X 123589439 [A/G] NM_001163278,NM_014253,NM_001163279 TENM1,TENM1,TENM1 Silent,Silent,Silent exm1656215 X 123615807 [A/G] NM_001163278,NM_014253,NM_001163279 TENM1,TENM1,TENM1 EXON Missense_P1242S,Missense_P1235S,Missense_P1241S exm1656220 X 123630906 [T/C] NM_001163278,NM_014253,NM_001163279 TENM1,TENM1,TENM1 EXON Missense_I1219V,Missense_I1219V,Missense_I1218V exm1656221 X 123630915 [T/C] NM_001163278,NM_014253,NM_001163279 TENM1,TENM1,TENM1 EXON Missense_V1216I,Missense_V1216I,Missense_V1215I exm1656228 X 123631048 [T/C] NM_001163278,NM_014253,NM_001163279 TENM1,TENM1,TENM1 EXON Missense_I1171M,Missense_I1171M,Missense_I1170M exm1656229 X 123631064 [C/G] NM_001163278,NM_014253,NM_001163279 TENM1,TENM1,TENM1 EXON Missense_P1166R,Missense_P1166R,Missense_P1165R exm1656233 X 123637493 [A/G] NM_001163278,NM_014253,NM_001163279 TENM1,TENM1,TENM1 EXON Missense_V1121A,Missense_V1121A,Missense_V1120A exm1656235 X 123654395 [A/C] NM_001163278,NM_014253,NM_001163279 TENM1,TENM1,TENM1 EXON Missense_Q1091H,Missense_Q1091H,Missense_Q1090H exm1656244 X 123654616 [A/G] NM_001163278,NM_014253,NM_001163279 TENM1,TENM1,TENM1 EXON Missense_P1018S,Missense_P1018S,Missense_P1017S exm1656263 X 123680757 [T/G] NM_001163278,NM_014253,NM_001163279 TENM1,TENM1,TENM1 EXON Missense_H873P,Missense_H873P,Missense_H872P exm2248572 X 123775797 [T/C] NM_001163278,NM_014253,NM_001163279 TENM1,TENM1,TENM1 EXON Missense_K641E,Missense_K641E,Missense_K640E exm1656279 X 123775824 [T/C] NM_001163278,NM_014253,NM_001163279 TENM1,TENM1,TENM1 EXON Missense_M632V,Missense_M632V,Missense_M631V exm1656292 X 123805589 [A/G] NM_001163278,NM_014253,NM_001163279 TENM1,TENM1,TENM1 EXON Missense_M371T,Missense_M371T,Missense_M370T exm1656310 X 123870967 [A/C] NM_001163278,NM_014253,NM_001163279 TENM1,TENM1,TENM1 EXON Missense_A206S,Missense_A206S,Missense_A206S exm1656314 X 124028159 [T/G] NM_001163278,NM_014253,NM_001163279 TENM1,TENM1,TENM1 EXON Missense_A174D,Missense_A174D,Missense_A174D exm1656315 X 124028160 [T/C] NM_001163278,NM_014253,NM_001163279 TENM1,TENM1,TENM1 EXON Missense_A174T,Missense_A174T,Missense_A174T exm1656330 X 124097485 [A/G] NM_001163278,NM_014253,NM_001163279 TENM1,TENM1,TENM1 EXON Missense_Y40H,Missense_Y40H,Missense_Y40H exm2262943 X 124102283 [T/C] exm1656345 X 124456399 [A/G] NM_001195272 LOC100129520 EXON Missense_S811G exm2262944 X 124573414 [A/C] exm2264773 X 125188314 [A/C] exm1656352 X 125298622 [T/C] NM_001013628 DCAF12L2 EXON Missense_N429S exm1656356 X 125298709 [T/C] NM_001013628 DCAF12L2 EXON Missense_R400K exm1656369 X 125299099 [A/C] NM_001013628 DCAF12L2 EXON Missense_F270C exm2273296 X 125325290 [T/C] exm1656402 X 125685229 [A/G] NM_178470 DCAF12L1 EXON Missense_H455Y exm1656411 X 125685513 [T/C] NM_178470 DCAF12L1 EXON Missense_R360H exm1656413 X 125685552 [T/C] NM_178470 DCAF12L1 EXON Missense_R347Q exm2262740 X 125718871 [A/G] exm2268538 X 125886704 [A/G] exm1656456 X 125954826 [A/C] NM_001122716 CXorf64 EXON Missense_Q69K exm1656459 X 125954901 [A/G] NM_001122716 CXorf64 EXON Missense_G94R exm1656462 X 125954938 [C/G] NM_001122716 CXorf64 EXON Missense_T106R exm1656464 X 125954964 [C/G] NM_001122716 CXorf64 EXON Missense_L115V exm1656466 X 125955199 [T/C] NM_001122716 CXorf64 EXON Missense_M193T exm1656467 X 125955208 [T/C] NM_001122716 CXorf64 EXON Missense_P196L exm1656472 X 125955483 [T/C] NM_001122716 CXorf64 EXON Missense_P288S exm2273192 X 126287039 [T/C] exm2273297 X 126962295 [T/C] exm2204300 X 127185207 [A/G] NM_138289 ACTRT1 EXON Missense_P327S exm1656479 X 127185247 [A/C] NM_138289 ACTRT1 EXON Missense_R313S exm1656483 X 127185311 [T/C] NM_138289 ACTRT1 EXON Missense_N292S exm1656486 X 127185375 [A/G] NM_138289 ACTRT1 EXON Missense_H271Y exm1656491 X 127185494 [A/C] NM_138289 ACTRT1 EXON Missense_R231L exm1656493 X 127185519 [T/C] NM_138289 ACTRT1 EXON Missense_A223T exm1656495 X 127185555 [T/C] NM_138289 ACTRT1 EXON Missense_V211M exm1656500 X 127185657 [T/C] NM_138289 ACTRT1 EXON Missense_A177T exm1656509 X 127185891 [T/C] NM_138289 ACTRT1 EXON Missense_V99I exm1656514 X 127186079 [G/C] NM_138289 ACTRT1 EXON Missense_S36T exm1656517 X 127186149 [T/C] NM_138289 ACTRT1 EXON Missense_I13V exm1656519 X 127186161 [T/C] NM_138289 ACTRT1 EXON Missense_V9I exm2273194 X 127813899 [T/G] exm2273195 X 128202425 [T/C] exm1656533 X 128605236 [C/G] NM_003069,NM_139035 SMARCA1,SMARCA1 EXON Missense_G837A,Missense_G825A exm2204370 X 128615056 [T/G] NM_003069,NM_139035 SMARCA1,SMARCA1 EXON Missense_P775Q,Missense_P763Q exm1656544 X 128621096 [A/G] NM_003069,NM_139035 SMARCA1,SMARCA1 EXON Missense_R706C,Missense_R694C exm2204391 X 128645816 [A/G] NM_003069,NM_139035 SMARCA1,SMARCA1 EXON Missense_R259C,Missense_R259C exm1656570 X 128645854 [T/C] NM_003069,NM_139035 SMARCA1,SMARCA1 EXON Missense_N246S,Missense_N246S exm2273298 X 128665408 [T/C] exm1656593 X 128674722 [T/C] NM_000276,NM_001587 OCRL,OCRL EXON Missense_T14I,Missense_T14I exm1656603 X 128692693 [T/C] NM_000276,NM_001587 OCRL,OCRL EXON Missense_R175W,Missense_R175W exm1656606 X 128694567 [A/G] NM_000276,NM_001587 OCRL,OCRL EXON Missense_D255N,Missense_D255N exm1656609 X 128695228 [A/G] NM_000276,NM_001587 OCRL,OCRL EXON Missense_M299I,Missense_M299I exm1656617 X 128699795 [A/G] NM_000276,NM_001587 OCRL,OCRL EXON Missense_D431N,Missense_D431N exm1656670 X 128876155 [T/C] NM_003399 XPNPEP2 EXON Missense_P41S exm1656672 X 128878004 [A/G] NM_003399 XPNPEP2 EXON Missense_Q64R exm1656676 X 128880281 [A/G] NM_003399 XPNPEP2 EXON Missense_R123Q exm1656681 X 128881594 [A/G] NM_003399 XPNPEP2 EXON Missense_S168G exm1656685 X 128884450 [T/C] NM_003399 XPNPEP2 EXON Missense_T215I exm1656686 X 128884473 [A/G] NM_003399 XPNPEP2 EXON Missense_V223I exm1656688 X 128884502 [T/G] NM_003399 XPNPEP2 EXON Missense_K232N exm1656692 X 128885789 [G/C] NM_003399 XPNPEP2 EXON Missense_D270H exm1656702 X 128886229 [T/C] NM_003399 XPNPEP2 EXON Missense_R309C exm1656709 X 128888451 [T/C] NM_003399 XPNPEP2 EXON Missense_R371W exm1656711 X 128888494 [A/G] NM_003399 XPNPEP2 EXON Missense_K385R exm1656713 X 128888517 [A/G] NM_003399 XPNPEP2 EXON Missense_D393N exm1656714 X 128888527 [T/C] NM_003399 XPNPEP2 EXON Missense_S396L exm1656727 X 128895150 [T/C] NM_003399 XPNPEP2 EXON Nonsense_R501X exm1656743 X 128902301 [A/G] NM_003399 XPNPEP2 EXON Missense_R622Q exm1656765 X 128925015 [A/G] NM_018990 SASH3 EXON Missense_E134K exm1656766 X 128925031 [T/C] NM_018990 SASH3 EXON Missense_P139L exm1656772 X 128926729 [A/G] NM_018990 SASH3 EXON Missense_A240T exm1656773 X 128926741 [T/C] NM_018990 SASH3 EXON Missense_R244C exm1656784 X 128927644 [A/G] NM_018990 SASH3 EXON Missense_A327T exm1656820 X 129041353 [T/G] NM_006649,NM_001166221 UTP14A,UTP14A EXON Missense_L13V,Missense_L13V exm1656826 X 129042666 [T/C] NM_006649,NM_001166221 UTP14A,UTP14A EXON Missense_S65F,Missense_S65F exm1656831 X 129045778 [A/G] NM_006649,NM_001166221 UTP14A,UTP14A EXON Missense_V140I,Silent exm1656832 X 129045796 [G/C] NM_006649,NM_001166221 UTP14A,UTP14A EXON Missense_P146A,Silent exm1656837 X 129054446 [A/G] NM_006649,NM_001166221 UTP14A,UTP14A EXON Missense_V256M,Missense_V204M exm1656838 X 129054495 [A/G] NM_006649,NM_001166221 UTP14A,UTP14A EXON Missense_R272Q,Missense_R220Q exm1656839 X 129054506 [T/C] NM_006649,NM_001166221 UTP14A,UTP14A EXON Missense_P276S,Missense_P224S exm1656844 X 129055401 [A/C] NM_006649,NM_001166221 UTP14A,UTP14A EXON Missense_L396M,Missense_L344M exm1656845 X 129055464 [A/G] NM_006649,NM_001166221 UTP14A,UTP14A EXON Missense_E417K,Missense_E365K exm1656858 X 129058951 [T/C] NM_006649,NM_001166221 UTP14A,UTP14A EXON Missense_T510M,Missense_T458M exm1656868 X 129060298 [T/C] NM_006649,NM_001166221 UTP14A,UTP14A EXON Missense_H676Y,Missense_H624Y exm1656878 X 129063525 [A/C] NM_006649,NM_001166221 UTP14A,UTP14A EXON Missense_N753H,Missense_N701H exm1656882 X 129139268 [T/C] NM_021946 BCORL1 EXON Missense_R21C exm1656885 X 129146583 [T/C] NM_021946 BCORL1 EXON Missense_T39M exm1656886 X 129146962 [T/C] NM_021946 BCORL1 EXON Missense_R72W exm1656889 X 129147028 [A/G] NM_021946 BCORL1 EXON Missense_D94N exm1656894 X 129147079 [T/C] NM_021946 BCORL1 EXON Missense_F111L exm1656905 X 129147331 [A/G] NM_021946 BCORL1 EXON Missense_N195D exm1656909 X 129147373 [A/G] NM_021946 BCORL1 EXON Missense_G209S exm1656979 X 129149380 [A/G] NM_021946 BCORL1 EXON Missense_S878G exm1656981 X 129149396 [A/G] NM_021946 BCORL1 EXON Missense_G883E exm1656985 X 129149417 [A/G] NM_021946 BCORL1 EXON Missense_R890Q exm1656987 X 129149570 [T/G] NM_021946 BCORL1 EXON Missense_G941V exm1656996 X 129149891 [A/G] NM_021946 BCORL1 EXON Missense_R1048Q exm1656997 X 129149906 [A/G] NM_021946 BCORL1 EXON Missense_K1053R exm1657001 X 129150007 [A/G] NM_021946 BCORL1 EXON Missense_G1087R exm1657004 X 129150080 [T/C] NM_021946 BCORL1 EXON Missense_T1111M exm1657010 X 129150143 [T/C] NM_021946 BCORL1 EXON Missense_L1132P exm1657017 X 129155039 [A/G] NM_021946 BCORL1 EXON Missense_N1174S exm1657037 X 129159337 [A/G] NM_021946 BCORL1 EXON Missense_R1354Q exm2204605 X 129162702 [A/G] NM_021946 BCORL1 EXON Missense_G1391R exm1657062 X 129184715 [T/C] NM_021946 BCORL1 EXON Missense_R1548W exm1657085 X 129200878 [A/G] NM_001127197,NM_001421 ELF4,ELF4 EXON Missense_R604C,Missense_R604C exm1657104 X 129201457 [T/C] NM_001127197,NM_001421 ELF4,ELF4 EXON Missense_V411M,Missense_V411M exm1657105 X 129201466 [T/C] NM_001127197,NM_001421 ELF4,ELF4 EXON Missense_V408M,Missense_V408M exm1657106 X 129203318 [T/C] NM_001127197,NM_001421 ELF4,ELF4 EXON Missense_V382I,Missense_V382I exm1657110 X 129203428 [G/C] NM_001127197,NM_001421 ELF4,ELF4 EXON Missense_S345T,Missense_S345T exm1657128 X 129206293 [A/G] NM_001127197,NM_001421 ELF4,ELF4 EXON Missense_A147V,Missense_A147V exm1657135 X 129208081 [T/C] NM_001127197,NM_001421 ELF4,ELF4 EXON Missense_A95T,Missense_A95T exm2262955 X 129237566 [A/G] NM_001127197,NM_001421 ELF4,ELF4 Silent,Silent exm1657149 X 129264082 [A/G] NM_004208,NM_145812,NM_001130847,NM_001130846,NM_145813 AIFM1,AIFM1,AIFM1,AIFM1,AIFM1 EXON Missense_P545S,Missense_P541S,Silent,Missense_P193S,Missense_P258S exm1657152 X 129265680 [T/C] NM_004208,NM_145812,NM_001130847,NM_001130846,NM_145813 AIFM1,AIFM1,AIFM1,AIFM1,AIFM1 EXON Missense_D515N,Missense_D511N,Silent,Missense_D163N,Missense_D228N exm1657157 X 129267348 [A/C] NM_004208,NM_145812,NM_001130847,NM_001130846,NM_145813 AIFM1,AIFM1,AIFM1,AIFM1,AIFM1 EXON Missense_R463I,Missense_R459I,Silent,Missense_R111I,Missense_R176I exm2277404 X 129281476 [T/C] NM_004208,NM_145812,NM_001130847,NM_145813 AIFM1,AIFM1,AIFM1,AIFM1 EXON Synonymous_K199K,Synonymous_K195K,Synonymous_K199K,Silent exm1657184 X 129283519 [T/C] NM_004208,NM_145812,NM_001130847,NM_145813 AIFM1,AIFM1,AIFM1,AIFM1 EXON Missense_E92K,Missense_E88K,Missense_E92K,Silent exm1657194 X 129299528 [A/G] NM_004208,NM_145812,NM_001130847,NM_145813 AIFM1,AIFM1,AIFM1,AIFM1 EXON Missense_P35S,Missense_P35S,Missense_P35S,Missense_P35S exm1657228 X 129339273 [T/C] NM_017666 ZNF280C EXON Missense_N720S exm1657263 X 129364546 [G/C] NM_017666 ZNF280C EXON Missense_E309D exm1657272 X 129370486 [A/C] NM_017666 ZNF280C EXON Missense_I207M exm2273196 X 129399117 [T/C] NM_017666 ZNF280C Silent exm1657325 X 129518496 [A/G] NM_178471 GPR119 EXON Missense_S309L exm1657334 X 129518800 [T/C] NM_178471 GPR119 EXON Missense_M208V exm1657355 X 129519418 [T/C] NM_178471 GPR119 EXON Missense_E2K exm1657366 X 129545365 [A/G] NM_016024 RBMX2 EXON Missense_R116Q exm1657378 X 129546514 [A/G] NM_016024 RBMX2 EXON Missense_G221R exm1657379 X 129546539 [T/C] NM_016024 RBMX2 EXON Missense_T229M exm1657385 X 129546713 [A/G] NM_016024 RBMX2 EXON Missense_R287H exm1657390 X 129546814 [T/C] NM_016024 RBMX2 EXON Missense_R321C exm1657429 X 129765444 [A/G] NM_006375,NM_182314 ENOX2,ENOX2 EXON Missense_V509A,Missense_V538A exm1657430 X 129765450 [A/C] NM_006375,NM_182314 ENOX2,ENOX2 EXON Missense_L507R,Missense_L536R exm1657431 X 129765459 [T/C] NM_006375,NM_182314 ENOX2,ENOX2 EXON Missense_R504H,Missense_R533H exm1657437 X 129768974 [T/C] NM_006375,NM_182314 ENOX2,ENOX2 EXON Missense_E468G,Missense_E497G exm1657452 X 129801593 [T/C] NM_006375,NM_182314 ENOX2,ENOX2 EXON Missense_R273H,Missense_R302H exm1657460 X 129804004 [A/G] NM_006375,NM_182314 ENOX2,ENOX2 EXON Missense_P210L,Missense_P239L exm2204765 X 129804011 [A/G] NM_006375,NM_182314 ENOX2,ENOX2 EXON Missense_R208C,Missense_R237C exm1657469 X 129822942 [T/C] NM_006375,NM_182314 ENOX2,ENOX2 EXON Missense_M50V,Missense_M79V exm1657470 X 129822962 [T/C] NM_006375,NM_182314 ENOX2,ENOX2 EXON Missense_G43E,Missense_G72E exm2262744 X 129824705 [T/C] NM_006375,NM_182314 ENOX2,ENOX2 Silent,Silent exm1657474 X 129837190 [T/C] NM_006375,NM_182314 ENOX2,ENOX2 EXON Missense_M1V,Missense_M30V exm1657508 X 130218967 [A/G] NM_144967 ARHGAP36 EXON Missense_K295R exm1657524 X 130222635 [T/C] NM_144967 ARHGAP36 EXON Missense_T507I exm2268626 X 130365109 [A/G] exm1657553 X 130408773 [T/C] NM_001555,NM_001170961,NM_001170962 IGSF1,IGSF1,IGSF1 EXON Missense_R1184Q,Missense_R1189Q,Missense_R1175Q exm1657556 X 130409069 [T/C] NM_001555,NM_001170961,NM_001170962 IGSF1,IGSF1,IGSF1 EXON Missense_G1126S,Missense_G1131S,Missense_G1117S exm1657560 X 130409217 [G/C] NM_001555,NM_001170961,NM_001170962 IGSF1,IGSF1,IGSF1 EXON Missense_M1076I,Missense_M1081I,Missense_M1067I exm1657572 X 130409655 [A/G] NM_001555,NM_001170961,NM_001170962 IGSF1,IGSF1,IGSF1 EXON Missense_P994L,Missense_P999L,Missense_P985L exm1657574 X 130409697 [A/G] NM_001555,NM_001170961,NM_001170962 IGSF1,IGSF1,IGSF1 EXON Missense_V980A,Missense_V985A,Missense_V971A exm1657585 X 130410150 [T/C] NM_001555,NM_001170961,NM_001170962 IGSF1,IGSF1,IGSF1 EXON Missense_R894H,Missense_R899H,Missense_R885H exm1657597 X 130412018 [C/G] NM_001555,NM_001170961,NM_001170962 IGSF1,IGSF1,IGSF1 EXON Missense_G711A,Missense_G716A,Missense_G702A exm2248592 X 130412019 [T/C] NM_001555,NM_001170961,NM_001170962 IGSF1,IGSF1,IGSF1 EXON Missense_G711R,Missense_G716R,Missense_G702R exm1657606 X 130412680 [T/G] NM_001555,NM_001170961,NM_001170962 IGSF1,IGSF1,IGSF1 EXON Missense_N599T,Missense_N604T,Missense_N590T exm1657615 X 130415208 [A/G] NM_001555,NM_001170961,NM_001170962 IGSF1,IGSF1,IGSF1 EXON Missense_R544W,Missense_R544W,Missense_R535W exm1657623 X 130415673 [T/G] NM_001555,NM_001170961,NM_001170962 IGSF1,IGSF1,IGSF1 EXON Missense_R498S,Missense_R498S,Missense_R489S exm1657638 X 130416480 [A/C] NM_001555,NM_001170961,NM_001170962 IGSF1,IGSF1,IGSF1 EXON Missense_L395R,Missense_L395R,Missense_L386R exm2277405 X 130416523 [T/G] NM_001555,NM_001170961,NM_001170962 IGSF1,IGSF1,IGSF1 EXON Missense_N381H,Missense_N381H,Missense_N372H exm1657652 X 130417148 [T/C] NM_001555,NM_001170961,NM_001170962 IGSF1,IGSF1,IGSF1 EXON Missense_Y253C,Missense_Y253C,Missense_Y244C exm1657659 X 130419111 [G/C] NM_001555,NM_001170961,NM_001170962,NM_205833,NM_001170963 IGSF1,IGSF1,IGSF1,IGSF1,IGSF1 EXON Silent,Silent,Silent,Missense_P237A,Missense_P237A exm1657662 X 130419221 [T/C] NM_001555,NM_001170961,NM_001170962,NM_205833,NM_001170963 IGSF1,IGSF1,IGSF1,IGSF1,IGSF1 EXON Missense_R200H,Missense_R200H,Missense_R191H,Missense_R200H,Missense_R200H exm1657668 X 130419322 [G/C] NM_001555,NM_001170961,NM_001170962,NM_205833,NM_001170963 IGSF1,IGSF1,IGSF1,IGSF1,IGSF1 EXON Missense_E166D,Missense_E166D,Missense_E157D,Missense_E166D,Missense_E166D exm1657675 X 130419956 [A/G] NM_001555,NM_001170961,NM_001170962,NM_205833,NM_001170963 IGSF1,IGSF1,IGSF1,IGSF1,IGSF1 EXON Missense_T55M,Missense_T55M,Missense_T46M,Missense_T55M,Missense_T55M exm2273198 X 130478545 [T/G] exm1657694 X 130678124 [T/C] NM_001004486 OR13H1 EXON Missense_T26M exm1657702 X 130678349 [T/C] NM_001004486 OR13H1 EXON Missense_T101M exm1657712 X 130678501 [T/C] NM_001004486 OR13H1 EXON Missense_S152P exm2248594 X 130678655 [T/C] NM_001004486 OR13H1 EXON Missense_I203T exm1657717 X 130678702 [T/C] NM_001004486 OR13H1 EXON Nonsense_R219X exm1657721 X 130678844 [A/C] NM_001004486 OR13H1 EXON Missense_Y266S exm1657734 X 130678897 [T/A] NM_001004486 OR13H1 EXON Missense_L284M exm1657737 X 130678919 [T/C] NM_001004486 OR13H1 EXON Missense_L291P exm1657738 X 130678930 [T/G] NM_001004486 OR13H1 EXON Missense_D295Y exm1657740 X 130678940 [A/G] NM_001004486 OR13H1 EXON Missense_R298Q exm2273199 X 131024102 [T/C] exm1657746 X 131188749 [T/C] NM_016542,NM_001042453,NM_001042452 MST4,MST4,MST4 EXON Missense_R45C,Silent,Missense_R45C exm1657758 X 131202593 [T/C] NM_016542,NM_001042453,NM_001042452 MST4,MST4,MST4 EXON Missense_S198L,Missense_S121L,Missense_S198L exm2204877 X 131207070 [A/G] NM_016542,NM_001042453,NM_001042452 MST4,MST4,MST4 EXON Missense_C392Y,Missense_C315Y,Missense_C330Y exm1657797 X 131212457 [A/G] NM_194277 FRMD7 EXON Missense_P530S exm1657798 X 131212487 [C/G] NM_194277 FRMD7 EXON Missense_H520D exm1657800 X 131212514 [T/C] NM_194277 FRMD7 EXON Missense_I511V exm1657804 X 131212572 [A/C] NM_194277 FRMD7 EXON Missense_M491I exm1657805 X 131212642 [T/C] NM_194277 FRMD7 EXON Missense_R468H exm1657818 X 131216398 [A/G] NM_194277 FRMD7 EXON Missense_R300C exm1657820 X 131216454 [A/G] NM_194277 FRMD7 EXON Missense_S281L exm2263632 X 131219749 [T/C] NM_194277 FRMD7 EXON Missense_S169G exm1657827 X 131219995 [T/G] NM_194277 FRMD7 EXON Missense_N150K exm1657831 X 131228091 [T/C] NM_194277 FRMD7 EXON Missense_M121V exm2263633 X 131231346 [T/C] NM_194277 FRMD7 EXON Missense_M78V exm2273300 X 131516423 [T/C] NM_001170701,NM_001170704,NM_133486,NM_001170703,NM_001170702,NM_018388 MBNL3,MBNL3,MBNL3,MBNL3,MBNL3,MBNL3 Silent,Silent,Silent,Silent,Silent,Silent exm1657872 X 131526341 [A/C] NM_001170701,NM_001170704,NM_133486,NM_001170703,NM_001170702,NM_018388 MBNL3,MBNL3,MBNL3,MBNL3,MBNL3,MBNL3 EXON Missense_S72A,Missense_S26A,Missense_S122A,Missense_S26A,Missense_S72A,Missense_S122A exm1657873 X 131526359 [A/G] NM_001170701,NM_001170704,NM_133486,NM_001170703,NM_001170702,NM_018388 MBNL3,MBNL3,MBNL3,MBNL3,MBNL3,MBNL3 EXON Missense_S66P,Missense_S20P,Missense_S116P,Missense_S20P,Missense_S66P,Missense_S116P exm1657894 X 131762541 [A/C] NM_001077188,NM_147175 HS6ST2,HS6ST2 EXON Missense_A550S,Missense_A510S exm1657897 X 131762658 [T/C] NM_001077188,NM_147175 HS6ST2,HS6ST2 EXON Missense_E511K,Missense_E471K exm2262748 X 131789610 [A/G] NM_001077188,NM_147175 HS6ST2,HS6ST2 Silent,Silent exm1657908 X 131803162 [T/C] NM_001077188,NM_147175,NR_046691 HS6ST2,HS6ST2,HS6ST2-AS1 EXON Missense_R349Q,Silent,Silent exm1657912 X 131803196 [T/C] NM_001077188,NM_147175,NR_046691 HS6ST2,HS6ST2,HS6ST2-AS1 EXON Missense_A338T,Silent,Silent exm1657937 X 132092485 [A/G] NM_001077188,NM_147175 HS6ST2,HS6ST2 EXON Missense_S49L,Missense_S49L exm2268542 X 132110276 [A/G] exm-rs17324272 X 132137156 [T/C] exm1657946 X 132159511 [T/C] NM_031907 USP26 EXON Missense_E913G exm1657960 X 132160019 [T/C] NM_031907 USP26 EXON Missense_G744S exm1657967 X 132160273 [A/G] NM_031907 USP26 EXON Missense_T659M exm1657969 X 132160292 [G/C] NM_031907 USP26 EXON Missense_P653A exm1657971 X 132160412 [G/C] NM_031907 USP26 EXON Missense_G613R exm1657972 X 132160512 [T/C] NM_031907 USP26 EXON Missense_M579I exm1657973 X 132160640 [C/G] NM_031907 USP26 EXON Missense_Q537E exm1657976 X 132160826 [A/G] NM_031907 USP26 EXON Missense_H475Y exm2248597 X 132161205 [T/A] NM_031907 USP26 EXON Missense_F348L exm1657995 X 132161755 [A/G] NM_031907 USP26 EXON Missense_L165S exm2248598 X 132161791 [A/C] NM_031907 USP26 EXON Missense_G153V exm1658007 X 132162006 [A/C] NM_031907 USP26 EXON Missense_L81F exm2277406 X 132162058 [T/C] NM_031907 USP26 EXON Missense_Y64C exm1658017 X 132351204 [T/C] NM_016521 TFDP3 EXON Missense_A362T exm1658019 X 132351220 [A/C] NM_016521 TFDP3 EXON Missense_S356R exm1658034 X 132351686 [T/C] NM_016521 TFDP3 EXON Missense_R201Q exm1658035 X 132351703 [A/C] NM_016521 TFDP3 EXON Missense_Q195H exm1658040 X 132351773 [A/G] NM_016521 TFDP3 EXON Missense_M172T exm1658046 X 132351849 [A/G] NM_016521 TFDP3 EXON Missense_H147Y exm1658047 X 132351861 [T/C] NM_016521 TFDP3 EXON Missense_A143T exm1658057 X 132352071 [T/C] NM_016521 TFDP3 EXON Missense_V73I exm1658059 X 132352230 [C/G] NM_016521 TFDP3 EXON Missense_E20Q exm1658060 X 132352271 [T/C] NM_016521 TFDP3 EXON Missense_S6N exm1658071 X 132437337 [A/G] NM_001448 GPC4 EXON Missense_A442V exm1658077 X 132438872 [A/C] NM_001448 GPC4 EXON Missense_E391D exm1658087 X 132445391 [A/G] NM_001448 GPC4 EXON Missense_R258W exm2262963 X 132529728 [A/G] NM_001448 GPC4 Silent exm1658105 X 132548956 [A/T] NM_001448 GPC4 EXON Missense_L13Q exm1658122 X 132730615 [T/C] NM_001164618,NM_001164617,NM_001164619,NM_004484 GPC3,GPC3,GPC3,GPC3 EXON Missense_M460V,Missense_M499V,Missense_M422V,Missense_M476V exm1658126 X 132826404 [T/C] NM_001164618,NM_001164617,NM_001164619,NM_004484 GPC3,GPC3,GPC3,GPC3 EXON Missense_V413M,Missense_V452M,Missense_V375M,Missense_V429M exm1658128 X 132826457 [A/C] NM_001164618,NM_001164617,NM_001164619,NM_004484 GPC3,GPC3,GPC3,GPC3 EXON Missense_S395I,Missense_S434I,Missense_S357I,Missense_S411I exm1658139 X 132887546 [T/C] NM_001164618,NM_001164617,NM_001164619,NM_004484 GPC3,GPC3,GPC3,GPC3 EXON Missense_Q316R,Missense_Q332R,Missense_Q278R,Missense_Q332R exm1658142 X 132887652 [T/C] NM_001164618,NM_001164617,NM_001164619,NM_004484 GPC3,GPC3,GPC3,GPC3 EXON Missense_R281G,Missense_R297G,Missense_R243G,Missense_R297G exm1658150 X 132887715 [T/C] NM_001164618,NM_001164617,NM_001164619,NM_004484 GPC3,GPC3,GPC3,GPC3 EXON Missense_G260S,Missense_G276S,Missense_G222S,Missense_G276S exm1658151 X 132887808 [T/G] NM_001164618,NM_001164617,NM_001164619,NM_004484 GPC3,GPC3,GPC3,GPC3 EXON Missense_H229N,Missense_H245N,Missense_H191N,Missense_H245N exm1658153 X 132887865 [T/C] NM_001164618,NM_001164617,NM_001164619,NM_004484 GPC3,GPC3,GPC3,GPC3 EXON Missense_T210A,Missense_T226A,Missense_T172A,Missense_T226A exm1658165 X 132888182 [T/C] NM_001164618,NM_001164617,NM_001164619,NM_004484 GPC3,GPC3,GPC3,GPC3 EXON Missense_R104H,Missense_R120H,Missense_R66H,Missense_R120H exm2268628 X 132981055 [A/G] NM_001164618,NM_001164617,NM_001164619,NM_004484 GPC3,GPC3,GPC3,GPC3 Silent,Silent,Silent,Silent exm2273200 X 133248489 [T/C] exm2248605 X 133379411 [T/C] NM_001101357 CCDC160 EXON Missense_T194M exm1658205 X 133379587 [A/G] NM_001101357 CCDC160 EXON Missense_E253K exm1658209 X 133379666 [A/G] NM_001101357 CCDC160 EXON Missense_S279N exm1658221 X 133512072 [A/G] NM_001015877,NM_032335,NM_032458 PHF6,PHF6,PHF6 EXON Missense_N59S,Missense_N59S,Missense_N59S exm1658225 X 133547589 [T/C] NM_001015877,NM_032335,NM_032458 PHF6,PHF6,PHF6 EXON Missense_R163C,Missense_R164C,Missense_R163C exm2273201 X 133570842 [T/C] exm1658294 X 133700486 [T/C] NM_021796 PLAC1 EXON Missense_R76H exm1658297 X 133700630 [A/G] NM_021796 PLAC1 EXON Missense_V28A exm2262751 X 133754228 [T/C] NM_021796 PLAC1 Silent exm1658305 X 133906246 [T/C] NM_145284,NM_001170756,NM_001166600,NM_001166599,NM_001170757 FAM122B,FAM122B,FAM122B,FAM122B,FAM122B EXON Missense_A224T,Missense_A242T,Silent,Missense_A223T,Silent exm1658317 X 133922863 [T/C] NM_145284,NM_001170756,NM_001166600,NM_001166599,NM_001170757 FAM122B,FAM122B,FAM122B,FAM122B,FAM122B Silent,Silent,Silent,Silent,Silent exm1658331 X 133941729 [A/G] NM_001170780,NM_001170782,NM_001170784,NM_001170781,NM_001170783,NM_001170779,NM_138819 FAM122C,FAM122C,FAM122C,FAM122C,FAM122C,FAM122C,FAM122C EXON Missense_N70S,Missense_N34S,Missense_N34S,Missense_N34S,Missense_N34S,Missense_N34S,Missense_N34S exm1658343 X 133963268 [T/C] NM_001170779,NM_138819 FAM122C,FAM122C EXON Missense_P68S,Missense_P68S exm1658344 X 133963292 [T/C] NM_001170779,NM_138819 FAM122C,FAM122C EXON Missense_R76C,Missense_R76C exm1658359 X 133988253 [A/G] NM_001170779,NM_138819 FAM122C,FAM122C EXON Missense_Q192R,Silent exm2262966 X 134029987 [A/G] NM_019556 MOSPD1 Silent exm1658419 X 134185378 [G/C] NM_001078172,NM_001134321 FAM127B,FAM127B EXON Silent,Missense_I71M exm1658429 X 134292131 [A/G] NM_001031705,NM_017863 CXorf48,CXorf48 EXON Missense_T177M,Missense_T177M exm1658444 X 134421133 [A/G] NM_007131,NM_001185063 ZNF75D,ZNF75D EXON Missense_S490L,Missense_S395L exm1658455 X 134421551 [C/G] NM_007131,NM_001185063 ZNF75D,ZNF75D EXON Missense_L351V,Missense_L256V exm1658458 X 134421668 [A/G] NM_007131,NM_001185063 ZNF75D,ZNF75D EXON Nonsense_Q312X,Nonsense_Q217X exm1658460 X 134424968 [T/A] NM_007131,NM_001185063 ZNF75D,ZNF75D EXON Missense_M264L,Missense_M169L exm1658466 X 134426269 [T/C] NM_007131,NM_001185063 ZNF75D,ZNF75D EXON Missense_R181Q,Silent exm1658467 X 134426270 [A/G] NM_007131,NM_001185063 ZNF75D,ZNF75D EXON Missense_R181W,Silent exm2248611 X 134427795 [A/C] NM_007131,NM_001185063 ZNF75D,ZNF75D EXON Missense_M91R,Missense_M91R exm1658485 X 134428044 [A/G] NM_007131,NM_001185063 ZNF75D,ZNF75D EXON Missense_A8V,Missense_A8V exm1658495 X 134481380 [A/G] NM_152695 ZNF449 EXON Missense_E113K exm1658502 X 134483110 [C/G] NM_152695 ZNF449 EXON Missense_E144Q exm1658505 X 134483155 [A/G] NM_152695 ZNF449 EXON Missense_V159I exm1658517 X 134494415 [A/G] NM_152695 ZNF449 EXON Missense_R324Q exm2268629 X 134516674 [A/G] exm2273202 X 134555527 [T/C] exm1658550 X 134683651 [T/C] NM_182540 DDX26B EXON Missense_P276L exm1658563 X 134707883 [A/G] NM_182540 DDX26B EXON Missense_Y509C exm1658571 X 134711265 [A/T] NM_182540 DDX26B EXON Missense_T641S exm1658576 X 134713929 [G/C] NM_182540 DDX26B EXON Missense_A742G exm1658577 X 134713949 [G/C] NM_182540 DDX26B EXON Missense_V749L exm1658595 X 134947910 [A/G] NM_001007551,NM_001172288 CT45A5,CT45A5 EXON Nonsense_R139X,Nonsense_R139X exm1658597 X 134947919 [A/C] NM_001007551,NM_001172288 CT45A5,CT45A5 EXON Missense_C136G,Missense_C136G exm1658607 X 134947990 [A/G] NM_001007551,NM_001172288 CT45A5,CT45A5 EXON Missense_I112T,Missense_I112T exm2205170 X 134978433 [T/C] NM_018666 SAGE1 EXON Missense_P11L exm1658631 X 134983830 [T/C] NM_018666 SAGE1 EXON Missense_S67L exm1658633 X 134986656 [A/G] NM_018666 SAGE1 EXON Missense_I81V exm1658637 X 134986696 [A/G] NM_018666 SAGE1 EXON Missense_D94G exm1658644 X 134987435 [A/G] NM_018666 SAGE1 EXON Missense_R113H exm1658659 X 134988656 [T/C] NM_018666 SAGE1 EXON Missense_R228W exm1658664 X 134989150 [T/A] NM_018666 SAGE1 EXON Missense_I268F exm2205189 X 134989946 [A/G] NM_018666 SAGE1 EXON Missense_G369R exm1658682 X 134989947 [A/G] NM_018666 SAGE1 EXON Missense_G369E exm1658683 X 134989960 [T/G] NM_018666 SAGE1 EXON Missense_L373F exm1658692 X 134990348 [T/G] NM_018666 SAGE1 EXON Missense_L420F exm1658693 X 134990361 [A/G] NM_018666 SAGE1 EXON Missense_I425V exm1658698 X 134990701 [A/G] NM_018666 SAGE1 EXON Missense_V456I exm1658714 X 134992279 [T/G] NM_018666 SAGE1 EXON Missense_F605C exm1658718 X 134992651 [C/G] NM_018666 SAGE1 EXON Missense_A648P exm1658724 X 134993414 [A/T] NM_018666 SAGE1 EXON Missense_N690I exm1658728 X 134993814 [T/G] NM_018666 SAGE1 EXON Missense_N741K exm1658731 X 134993852 [C/G] NM_018666 SAGE1 EXON Missense_C754S exm1658735 X 134993888 [T/A] NM_018666 SAGE1 EXON Missense_D766V exm1658738 X 134994005 [T/C] NM_018666 SAGE1 EXON Missense_L805S exm1658747 X 134994557 [A/G] NM_018666 SAGE1 EXON Missense_I867V exm1658757 X 135047268 [A/G] NM_173470 MMGT1 EXON Missense_S104L exm1658763 X 135056133 [T/C] NM_173470 MMGT1 EXON Silent exm1658783 X 135081015 [A/G] NM_001177651,NM_001042537,NM_006359 SLC9A6,SLC9A6,SLC9A6 EXON Synonymous_G175G,Synonymous_G227G,Synonymous_G195G exm1658812 X 135115628 [A/G] NM_001177651,NM_001042537,NM_006359 SLC9A6,SLC9A6,SLC9A6 EXON Missense_R516Q,Missense_R568Q,Missense_R536Q exm2268545 X 135266089 [A/G] NR_027621,NM_001159702,NM_001159703,NM_001449,NM_001159700,NM_001159704,NM_001167819 FHL1,FHL1,FHL1,FHL1,FHL1,FHL1,FHL1 Silent,Silent,Silent,Silent,Silent,Silent,Silent exm1658839 X 135289301 [T/C] NR_027621,NM_001159702,NM_001159703,NM_001449,NM_001159700,NM_001159704,NM_001167819,NM_001159701,NM_001159699 FHL1,FHL1,FHL1,FHL1,FHL1,FHL1,FHL1,FHL1,FHL1 EXON Silent,Missense_R95W,Missense_R95W,Missense_R95W,Missense_R95W,Missense_R95W,Missense_R95W,Missense_R124W,Missense_R111W exm1658857 X 135292079 [T/C] NR_027621,NM_001159702,NM_001159703,NM_001449,NM_001159700,NM_001159704,NM_001167819,NM_001159701,NM_001159699 FHL1,FHL1,FHL1,FHL1,FHL1,FHL1,FHL1,FHL1,FHL1 EXON Silent,Missense_T313M,Missense_T184M,Synonymous_H246H,Synonymous_H246H,Synonymous_H246H,Synonymous_H246H,Synonymous_H275H,Synonymous_H262H exm1658859 X 135292164 [A/G] NR_027621,NM_001159702,NM_001159703,NM_001449,NM_001159700,NM_001159704,NM_001167819,NM_001159701,NM_001159699 FHL1,FHL1,FHL1,FHL1,FHL1,FHL1,FHL1,FHL1,FHL1 EXON Silent,Silent,Silent,Missense_D275N,Missense_D275N,Missense_D275N,Missense_D275N,Missense_D304N,Missense_D291N exm2248618 X 135301798 [A/G] NM_001173517,NM_024597,NM_001173516 MAP7D3,MAP7D3,MAP7D3 EXON Missense_T805M,Missense_T840M,Missense_T822M exm1658870 X 135308084 [T/C] NM_001173517,NM_024597,NM_001173516 MAP7D3,MAP7D3,MAP7D3 EXON Missense_R673Q,Missense_R708Q,Missense_R690Q exm1658875 X 135309499 [G/C] NM_001173517,NM_024597,NM_001173516 MAP7D3,MAP7D3,MAP7D3 EXON Missense_E625Q,Missense_E660Q,Missense_E642Q exm1658880 X 135310785 [T/C] NM_001173517,NM_024597,NM_001173516 MAP7D3,MAP7D3,MAP7D3 EXON Missense_Q593R,Missense_Q628R,Missense_Q610R exm1658881 X 135310786 [A/G] NM_001173517,NM_024597,NM_001173516 MAP7D3,MAP7D3,MAP7D3 EXON Nonsense_Q593X,Nonsense_Q628X,Nonsense_Q610X exm1658882 X 135310790 [A/C] NM_001173517,NM_024597,NM_001173516 MAP7D3,MAP7D3,MAP7D3 EXON Missense_M591I,Missense_M626I,Missense_M608I exm1658885 X 135312567 [T/C] NM_001173517,NM_024597,NM_001173516 MAP7D3,MAP7D3,MAP7D3 EXON Missense_S541N,Missense_S576N,Missense_S558N exm1658889 X 135312708 [A/G] NM_001173517,NM_024597,NM_001173516 MAP7D3,MAP7D3,MAP7D3 EXON Missense_I494T,Missense_I529T,Missense_I511T exm1658891 X 135312997 [G/C] NM_001173517,NM_024597,NM_001173516 MAP7D3,MAP7D3,MAP7D3 Silent,Silent,Silent exm1658892 X 135313034 [T/G] NM_001173517,NM_024597,NM_001173516 MAP7D3,MAP7D3,MAP7D3 EXON Missense_E467A,Missense_E502A,Missense_E484A exm1658898 X 135313788 [T/C] NM_001173517,NM_024597,NM_001173516 MAP7D3,MAP7D3,MAP7D3 EXON Missense_E408G,Missense_E443G,Missense_E425G exm1658901 X 135313837 [T/C] NM_001173517,NM_024597,NM_001173516 MAP7D3,MAP7D3,MAP7D3 EXON Missense_K392E,Missense_K427E,Missense_K409E exm1658906 X 135313924 [G/C] NM_001173517,NM_024597,NM_001173516 MAP7D3,MAP7D3,MAP7D3 EXON Missense_L363V,Missense_L398V,Missense_L380V exm2205274 X 135313935 [A/G] NM_001173517,NM_024597,NM_001173516 MAP7D3,MAP7D3,MAP7D3 EXON Missense_P359L,Missense_P394L,Missense_P376L exm1658909 X 135313953 [A/G] NM_001173517,NM_024597,NM_001173516 MAP7D3,MAP7D3,MAP7D3 EXON Missense_A353V,Missense_A388V,Missense_A370V exm1658911 X 135313959 [A/G] NM_001173517,NM_024597,NM_001173516 MAP7D3,MAP7D3,MAP7D3 EXON Missense_P351L,Missense_P386L,Missense_P368L exm1658918 X 135314244 [A/G] NM_001173517,NM_024597,NM_001173516 MAP7D3,MAP7D3,MAP7D3 EXON Missense_P256L,Missense_P291L,Missense_P273L exm1658952 X 135404948 [A/C] NM_153834 GPR112 EXON Missense_L28I exm1658956 X 135405024 [A/G] NM_153834 GPR112 EXON Missense_S53N exm1658957 X 135405026 [G/C] NM_153834 GPR112 EXON Missense_R54G exm1658958 X 135405027 [A/G] NM_153834 GPR112 EXON Missense_R54Q exm2205292 X 135405343 [C/G] NM_153834 GPR112 EXON Missense_F159L exm1658969 X 135405471 [A/G] NM_153834 GPR112 EXON Missense_D202G exm1658978 X 135426693 [A/G] NM_153834 GPR112 EXON Missense_I276M exm1658990 X 135426958 [T/A] NM_153834 GPR112 EXON Missense_F365I exm1658991 X 135426968 [A/C] NM_153834 GPR112 EXON Missense_P368H exm1658997 X 135427133 [T/C] NM_153834 GPR112 EXON Missense_T423I exm1659002 X 135427285 [A/C] NM_153834 GPR112 EXON Missense_I474L exm1659010 X 135427606 [T/C] NM_153834 GPR112 EXON Missense_R581C exm1659014 X 135427678 [A/G] NM_153834 GPR112 EXON Missense_G605R exm1659019 X 135427828 [A/G] NM_153834 GPR112 EXON Missense_I655V exm1659030 X 135428069 [A/G] NM_153834 GPR112 EXON Nonsense_W735X exm1659031 X 135428074 [T/G] NM_153834 GPR112 EXON Missense_A737S exm1659036 X 135428344 [C/G] NM_153834 GPR112 EXON Missense_P827A exm1659039 X 135428452 [T/C] NM_153834 GPR112 EXON Missense_P863S exm1659051 X 135428774 [T/C] NM_153834 GPR112 EXON Missense_T970I exm1659053 X 135428828 [T/C] NM_153834 GPR112 EXON Missense_T988M exm1659057 X 135428968 [A/G] NM_153834 GPR112 EXON Missense_E1035K exm1659061 X 135429119 [T/G] NM_153834 GPR112 EXON Missense_I1085S exm1659070 X 135429475 [T/A] NM_153834 GPR112 EXON Missense_T1204S exm1659072 X 135429503 [A/C] NM_153834 GPR112 EXON Missense_T1213N exm1659075 X 135429562 [T/C] NM_153834 GPR112 EXON Missense_S1233P exm1659088 X 135429808 [T/C] NM_153834 GPR112 EXON Missense_P1315S exm1659090 X 135429836 [A/C] NM_153834 GPR112 EXON Missense_S1324Y exm1659094 X 135430013 [T/C] NM_153834 GPR112 EXON Missense_T1383M exm1659098 X 135430118 [A/C] NM_153834 GPR112 EXON Missense_T1418N exm1659106 X 135430498 [C/G] NM_153834 GPR112 EXON Missense_P1545A exm1659107 X 135430504 [A/T] NM_153834 GPR112 EXON Missense_C1547S exm1659113 X 135430793 [T/C] NM_153834 GPR112 EXON Missense_T1643M exm1659117 X 135430820 [A/C] NM_153834 GPR112 EXON Missense_T1652N exm1659123 X 135430934 [A/C] NM_153834 GPR112 EXON Missense_S1690Y exm1659128 X 135431050 [A/G] NM_153834 GPR112 EXON Missense_V1729M exm1659134 X 135431236 [T/C] NM_153834 GPR112 EXON Missense_F1791L exm-rs5930933 X 135431358 [T/C] NM_153834 GPR112 EXON Synonymous_P1831P exm1659143 X 135431468 [T/C] NM_153834 GPR112 EXON Missense_T1868I exm1659149 X 135431664 [A/T] NM_153834 GPR112 EXON Missense_D1933E exm1659150 X 135431674 [A/G] NM_153834 GPR112 EXON Missense_M1937V exm1659159 X 135431950 [T/G] NM_153834 GPR112 EXON Missense_V2029F exm1659167 X 135432101 [G/C] NM_153834 GPR112 EXON Missense_G2079A exm1659176 X 135432419 [T/C] NM_153834 GPR112 EXON Missense_T2185I exm1659190 X 135443680 [C/G] NM_153834 GPR112 EXON Missense_T2404S exm1659191 X 135443689 [T/C] NM_153834 GPR112 EXON Missense_T2407M exm1659192 X 135443734 [T/C] NM_153834 GPR112 EXON Missense_A2422V exm2273203 X 135449440 [T/C] NM_153834 GPR112 Silent exm1659197 X 135453604 [A/G] NM_153834 GPR112 EXON Missense_E2505G exm1659211 X 135469953 [T/A] NM_153834 GPR112 EXON Nonsense_K2611X exm1659231 X 135477612 [T/C] NM_153834 GPR112 EXON Missense_I2715T exm1659232 X 135477653 [T/G] NM_153834 GPR112 Silent exm1659246 X 135487894 [T/G] NM_153834 GPR112 EXON Missense_A2900S exm1659248 X 135487988 [A/G] NM_153834 GPR112 EXON Missense_R2931Q exm1659252 X 135494468 [T/C] NM_153834 GPR112 EXON Missense_R2994W exm1659254 X 135494483 [A/C] NM_153834 GPR112 EXON Missense_I2999L exm1659256 X 135496326 [A/C] NM_153834 GPR112 EXON Missense_S3015R exm1659257 X 135496330 [T/C] NM_153834 GPR112 EXON Missense_R3017W exm1659261 X 135496457 [A/G] NM_153834 GPR112 EXON Missense_G3059D exm1659263 X 135570316 [A/T] NM_001727 BRS3 EXON Missense_S15T exm1659266 X 135570385 [A/G] NM_001727 BRS3 EXON Missense_G38R exm1659277 X 135574366 [T/G] NM_001727 BRS3 EXON Missense_Q344H exm1659279 X 135574388 [T/C] NM_001727 BRS3 EXON Missense_R352W exm1659284 X 135574433 [A/G] NM_001727 BRS3 EXON Missense_V367M exm1659312 X 135592313 [A/G] NM_001163280,NM_014500 HTATSF1,HTATSF1 EXON Missense_D333N,Missense_D333N exm1659318 X 135593316 [T/G] NM_001163280,NM_014500 HTATSF1,HTATSF1 EXON Missense_C471F,Missense_C471F exm1659319 X 135593322 [A/G] NM_001163280,NM_014500 HTATSF1,HTATSF1 EXON Missense_K473R,Missense_K473R exm1659320 X 135593337 [C/G] NM_001163280,NM_014500 HTATSF1,HTATSF1 EXON Missense_G478A,Missense_G478A exm1659325 X 135593588 [A/G] NM_001163280,NM_014500 HTATSF1,HTATSF1 EXON Missense_E562K,Missense_E562K exm1659328 X 135593757 [A/G] NM_001163280,NM_014500 HTATSF1,HTATSF1 EXON Missense_R618K,Missense_R618K exm1659330 X 135593870 [T/C] NM_001163280,NM_014500 HTATSF1,HTATSF1 EXON Missense_L656F,Missense_L656F exm1659334 X 135594012 [A/G] NM_001163280,NM_014500 HTATSF1,HTATSF1 EXON Missense_N703S,Missense_N703S exm1659342 X 135618208 [A/G] NM_016267 VGLL1 EXON Missense_R10Q exm1659346 X 135618355 [T/C] NM_016267 VGLL1 EXON Missense_T59I exm1659347 X 135618392 [T/C] NM_016267 VGLL1 EXON Synonymous_N71N exm2205408 X 135630781 [T/C] NM_016267 VGLL1 EXON Missense_S83L exm1659357 X 135630910 [A/G] NM_016267 VGLL1 EXON Missense_R126Q exm1659362 X 135631006 [A/G] NM_016267 VGLL1 EXON Missense_E158G exm1659365 X 135631072 [A/G] NM_016267 VGLL1 EXON Missense_R180H exm1659384 X 135730564 [A/G] NM_000074 CD40LG Silent exm2277408 X 135741330 [A/G] NM_000074 CD40LG EXON Missense_R181Q exm1659391 X 135741338 [A/T] NM_000074 CD40LG EXON Missense_S184T exm1659395 X 135741389 [T/C] NM_000074 CD40LG EXON Missense_F201L exm1659397 X 135741443 [A/G] NM_000074 CD40LG EXON Missense_G219R exm2273302 X 135743000 [T/C] exm1659406 X 135750304 [T/G] NM_004840 ARHGEF6 EXON Missense_L739M exm1659427 X 135763024 [C/G] NM_004840 ARHGEF6 EXON Missense_E524Q exm1659428 X 135764105 [A/G] NM_004840 ARHGEF6 EXON Missense_T501M exm1659431 X 135767859 [T/C] NM_004840 ARHGEF6 EXON Missense_M457V exm1659443 X 135790866 [A/C] NM_004840 ARHGEF6 EXON Missense_Q297H exm1659445 X 135790924 [T/C] NM_004840 ARHGEF6 EXON Missense_S278N exm1659451 X 135814308 [T/C] NM_004840 ARHGEF6 EXON Missense_V229I exm1659456 X 135827479 [T/C] NM_004840 ARHGEF6 EXON Missense_R121H exm1659460 X 135829739 [C/G] NM_004840 ARHGEF6 EXON Missense_D88H exm1659462 X 135861653 [A/G] NM_004840 ARHGEF6 EXON Missense_C57R exm2248625 X 135957326 [T/C] NM_001164803,NR_028477,NR_028476,NM_002139 RBMX,RBMX,RBMX,RBMX EXON Synonymous_A153A,Silent,Silent,Missense_D262N exm1659496 X 135957644 [T/A] NM_001164803,NR_028477,NR_028476,NM_002139 RBMX,RBMX,RBMX,RBMX EXON Missense_I106N,Silent,Silent,Nonsense_Y214X exm1659517 X 135960230 [T/C] NM_001164803,NR_028477,NR_028476,NM_002139 RBMX,RBMX,RBMX,RBMX EXON Silent,Silent,Silent,Missense_A78T exm-rs1190739 X 136055295 [T/C] exm2205482 X 136112335 [C/G] NM_054021 GPR101 EXON Missense_P500R exm1659531 X 136112540 [A/G] NM_054021 GPR101 EXON Missense_P432S exm1659534 X 136112609 [T/C] NM_054021 GPR101 EXON Missense_V409M exm1659535 X 136112632 [A/G] NM_054021 GPR101 EXON Missense_I401T exm1659537 X 136112693 [A/G] NM_054021 GPR101 EXON Missense_R381C exm1659538 X 136112707 [A/G] NM_054021 GPR101 EXON Missense_L376P exm1659542 X 136112732 [T/C] NM_054021 GPR101 EXON Missense_E368K exm1659544 X 136112821 [T/C] NM_054021 GPR101 EXON Missense_R338H exm1659548 X 136112942 [T/C] NM_054021 GPR101 EXON Missense_V298I exm1659549 X 136112956 [A/G] NM_054021 GPR101 EXON Missense_T293I exm1659553 X 136113122 [T/C] NM_054021 GPR101 EXON Missense_V238I exm1659559 X 136113464 [A/C] NM_054021 GPR101 EXON Missense_V124L exm2262755 X 136442811 [T/C] exm1659574 X 136648899 [T/G] NM_003413 ZIC3 EXON Missense_G17C exm1659586 X 136649499 [C/G] NM_003413 ZIC3 EXON Missense_P217A exm1659606 X 136652179 [A/C] NM_003413 ZIC3 EXON Missense_T452P exm2273205 X 136802680 [T/C] exm2268546 X 136931651 [A/G] exm2268630 X 137505468 [A/G] exm2273206 X 137670347 [T/C] exm1659635 X 137821409 [T/C] NM_001139498,NM_033642,NM_001139501,NM_001139500,NM_001139502 FGF13,FGF13,FGF13,FGF13,FGF13 EXON Silent,Missense_Y8C,Silent,Silent,Silent exm2273207 X 138268394 [T/G] NM_001139498,NM_001139501,NM_001139500 FGF13,FGF13,FGF13 Silent,Silent,Silent exm2273304 X 138289998 [T/C] exm2264775 X 138439843 [A/C] exm1659648 X 138612931 [A/G] NM_000133 F9 EXON Missense_R3H exm1659649 X 138612942 [T/A] NM_000133 F9 EXON Missense_I7F exm1659670 X 138633280 [A/G] NM_000133 F9 EXON Missense_T194A exm1659678 X 138643751 [T/C] NM_000133 F9 EXON Missense_H303Y exm1659679 X 138643811 [A/G] NM_000133 F9 EXON Missense_E323K exm1659689 X 138644225 [A/C] NM_000133 F9 EXON Missense_T461P exm1659690 X 138664615 [C/G] NM_001171879,NM_005369,NM_001171876,NM_001099855,NM_001171877,NM_001171878 MCF2,MCF2,MCF2,MCF2,MCF2,MCF2 EXON Silent,Silent,Silent,Silent,Nonsense_S818X,Nonsense_S857X exm1659693 X 138664635 [A/G] NM_001171879,NM_005369,NM_001171876,NM_001099855,NM_001171877,NM_001171878 MCF2,MCF2,MCF2,MCF2,MCF2,MCF2 EXON Missense_Y941H,Missense_Y925H,Missense_Y1001H,Missense_Y985H,Synonymous_Y811Y,Synonymous_Y850Y exm1659695 X 138664661 [T/C] NM_001171879,NM_005369,NM_001171876,NM_001099855,NM_001171877,NM_001171878 MCF2,MCF2,MCF2,MCF2,MCF2,MCF2 EXON Missense_R932K,Missense_R916K,Missense_R992K,Missense_R976K,Missense_D803N,Missense_D842N exm1659702 X 138668596 [A/G] NM_001171879,NM_005369,NM_001171876,NM_001099855,NM_001171877,NM_001171878 MCF2,MCF2,MCF2,MCF2,MCF2,MCF2 EXON Missense_T874I,Missense_T858I,Missense_T934I,Missense_T918I,Silent,Silent exm1659709 X 138672001 [A/G] NM_001171879,NM_005369,NM_001171876,NM_001099855,NM_001171877,NM_001171878 MCF2,MCF2,MCF2,MCF2,MCF2,MCF2 EXON Missense_I804T,Missense_I788T,Missense_I864T,Missense_I848T,Missense_I749T,Missense_I788T exm1659727 X 138684621 [T/C] NM_001171879,NM_005369,NM_001171876,NM_001099855,NM_001171877,NM_001171878 MCF2,MCF2,MCF2,MCF2,MCF2,MCF2 EXON Missense_N610D,Missense_N594D,Missense_N670D,Missense_N654D,Missense_N555D,Missense_N594D exm1659728 X 138686878 [A/G] NM_001171879,NM_005369,NM_001171876,NM_001099855,NM_001171877,NM_001171878 MCF2,MCF2,MCF2,MCF2,MCF2,MCF2 EXON Missense_H585Y,Missense_H569Y,Missense_H645Y,Missense_H629Y,Missense_H530Y,Missense_H569Y exm1659735 X 138687922 [G/C] NM_001171879,NM_005369,NM_001171876,NM_001099855,NM_001171877,NM_001171878 MCF2,MCF2,MCF2,MCF2,MCF2,MCF2 EXON Missense_L519V,Missense_L503V,Missense_L579V,Missense_L563V,Missense_L464V,Missense_L503V exm1659745 X 138698533 [T/C] NM_001171879,NM_005369,NM_001171876,NM_001099855,NM_001171877,NM_001171878 MCF2,MCF2,MCF2,MCF2,MCF2,MCF2 EXON Missense_E367K,Missense_E367K,Missense_E427K,Missense_E427K,Missense_E328K,Missense_E367K exm1659747 X 138698560 [G/C] NM_001171879,NM_005369,NM_001171876,NM_001099855,NM_001171877,NM_001171878 MCF2,MCF2,MCF2,MCF2,MCF2,MCF2 EXON Missense_D358H,Missense_D358H,Missense_D418H,Missense_D418H,Missense_D319H,Missense_D358H exm1659749 X 138698628 [T/C] NM_001171879,NM_005369,NM_001171876,NM_001099855,NM_001171877,NM_001171878 MCF2,MCF2,MCF2,MCF2,MCF2,MCF2 EXON Missense_R335H,Missense_R335H,Missense_R395H,Missense_R395H,Missense_R296H,Missense_R335H exm1659753 X 138699734 [T/C] NM_001171879,NM_005369,NM_001171876,NM_001099855,NM_001171877,NM_001171878 MCF2,MCF2,MCF2,MCF2,MCF2,MCF2 EXON Missense_E313K,Missense_E313K,Missense_E373K,Missense_E373K,Missense_E274K,Missense_E313K exm1659773 X 138724628 [A/G] NM_001171879,NM_005369,NM_001171876,NM_001099855,NM_001171877,NM_001171878 MCF2,MCF2,MCF2,MCF2,MCF2,MCF2 EXON Missense_A17V,Missense_A17V,Silent,Silent,Missense_A17V,Missense_A17V exm1659778 X 138727802 [T/G] NM_001171876,NM_001099855 MCF2,MCF2 EXON Missense_D52E,Missense_D52E exm1659793 X 138820146 [T/G] NM_001010986,NM_173694 ATP11C,ATP11C EXON Missense_L1076I,Missense_L1076I exm1659799 X 138827940 [T/C] NM_001010986,NM_173694 ATP11C,ATP11C EXON Missense_V972M,Missense_V972M exm2273305 X 138842007 [T/C] NM_001010986,NM_173694 ATP11C,ATP11C Silent,Silent exm1659816 X 138857008 [T/C] NM_001010986,NM_173694 ATP11C,ATP11C EXON Missense_Y689C,Missense_Y689C exm1659817 X 138857065 [T/C] NM_001010986,NM_173694 ATP11C,ATP11C EXON Missense_G670D,Missense_G670D exm1659822 X 138864841 [A/T] NM_001010986,NM_173694 ATP11C,ATP11C EXON Missense_D609V,Missense_D609V exm1659823 X 138865352 [T/C] NM_001010986,NM_173694 ATP11C,ATP11C EXON Missense_T584A,Missense_T584A exm1659829 X 138869350 [T/C] NM_001010986,NM_173694 ATP11C,ATP11C EXON Missense_Q528R,Missense_Q528R exm1659830 X 138869368 [T/C] NM_001010986,NM_173694 ATP11C,ATP11C EXON Missense_Y522C,Missense_Y522C exm1659850 X 138882269 [T/C] NM_001010986,NM_173694 ATP11C,ATP11C EXON Synonymous_K223K,Synonymous_K223K exm1659853 X 138884483 [A/G] NM_001010986,NM_173694 ATP11C,ATP11C EXON Missense_R194C,Missense_R194C exm1659854 X 138884495 [T/G] NM_001010986,NM_173694 ATP11C,ATP11C EXON Missense_H190N,Missense_H190N exm1659864 X 138897130 [A/C] NM_001010986,NM_173694 ATP11C,ATP11C EXON Missense_C114W,Missense_C114W exm1659877 X 139038084 [G/C] NM_001013403 CXorf66 EXON Missense_V353L exm1659878 X 139038107 [A/G] NM_001013403 CXorf66 EXON Missense_T345M exm1659879 X 139038160 [A/T] NM_001013403 CXorf66 EXON Missense_S327R exm1659883 X 139038300 [A/G] NM_001013403 CXorf66 EXON Missense_P281S exm1659887 X 139038344 [T/C] NM_001013403 CXorf66 EXON Missense_C266Y exm1659891 X 139038443 [A/G] NM_001013403 CXorf66 EXON Missense_P233L exm1659893 X 139038536 [T/C] NM_001013403 CXorf66 EXON Missense_S202N exm1659897 X 139038696 [G/C] NM_001013403 CXorf66 EXON Missense_P149A exm1659903 X 139038846 [T/C] NM_001013403 CXorf66 EXON Missense_A99T exm2264776 X 139181935 [A/C] exm-rs5955415 X 139314056 [C/G] exm1659933 X 139587069 [C/G] NM_005634 SOX3 EXON Missense_V53L exm1659934 X 139587099 [T/C] NM_005634 SOX3 EXON Missense_A43T exm1659938 X 139587212 [T/C] NM_005634 SOX3 EXON Missense_R5Q exm2273306 X 139835703 [T/G] exm1659945 X 139865862 [A/G] NM_004065 CDR1 EXON Missense_R224C exm1659952 X 139865961 [A/G] NM_004065 CDR1 EXON Missense_W191R exm1659960 X 139866081 [A/G] NM_004065 CDR1 EXON Missense_R151C exm1659976 X 139866513 [T/C] NM_004065 CDR1 EXON Missense_V7M exm2268548 X 139942890 [A/G] exm2268631 X 140704437 [A/G] NR_037183 SPANXA2-OT1 Silent exm1660072 X 140785773 [T/G] NM_145665,NM_032417 SPANXE,SPANXD EXON Nonsense_S48X,Nonsense_S48X exm2248633 X 140785803 [C/G] NM_145665,NM_032417 SPANXE,SPANXD EXON Missense_A38G,Missense_A38G exm1660116 X 140967121 [T/A] NM_138702 MAGEC3 EXON Missense_D140V exm1660122 X 140967165 [T/C] NM_138702 MAGEC3 EXON Missense_S155P exm1660126 X 140967195 [T/A] NM_138702 MAGEC3 EXON Missense_L165M exm1660127 X 140969250 [T/C] NM_138702 MAGEC3 EXON Nonsense_Q193X exm1660131 X 140969356 [A/G] NM_138702 MAGEC3 EXON Missense_K228R exm1660140 X 140983064 [A/G] NM_138702,NM_177456 MAGEC3,MAGEC3 EXON Missense_A307T,Silent exm1660146 X 140983127 [A/G] NM_138702,NM_177456 MAGEC3,MAGEC3 EXON Missense_A328T,Silent exm2205829 X 140983151 [A/G] NM_138702,NM_177456 MAGEC3,MAGEC3 EXON Missense_R336G,Silent exm1660147 X 140983169 [A/G] NM_138702,NM_177456 MAGEC3,MAGEC3 EXON Missense_V342I,Silent exm1660149 X 140983283 [A/G] NM_138702,NM_177456 MAGEC3,MAGEC3 EXON Missense_H354R,Silent exm1660155 X 140984463 [T/C] NM_138702,NM_177456 MAGEC3,MAGEC3 EXON Silent,Missense_R9C exm1660158 X 140984512 [T/G] NM_138702,NM_177456 MAGEC3,MAGEC3 EXON Silent,Missense_L25W exm1660166 X 140984824 [A/G] NM_138702,NM_177456 MAGEC3,MAGEC3 EXON Missense_R427Q,Missense_R129Q exm1660170 X 140984842 [A/G] NM_138702,NM_177456 MAGEC3,MAGEC3 EXON Missense_S433N,Missense_S135N exm1660173 X 140984934 [T/G] NM_138702,NM_177456 MAGEC3,MAGEC3 EXON Missense_V464L,Missense_V166L exm1660177 X 140985000 [A/G] NM_138702,NM_177456 MAGEC3,MAGEC3 EXON Missense_V486I,Missense_V188I exm2205843 X 140985142 [A/G] NM_138702,NM_177456 MAGEC3,MAGEC3 EXON Missense_Y533C,Missense_Y235C exm1660189 X 140985243 [T/G] NM_138702,NM_177456 MAGEC3,MAGEC3 EXON Missense_V567F,Missense_V269F exm1660200 X 140985515 [A/G] NM_138702,NM_177456 MAGEC3,MAGEC3 EXON Missense_D610G,Silent exm1660201 X 140985558 [T/G] NM_138702,NM_177456 MAGEC3,MAGEC3 EXON Missense_D624E,Silent exm1660207 X 140993216 [T/C] NM_005462 MAGEC1 EXON Missense_A9V exm1660212 X 140993264 [A/G] NM_005462 MAGEC1 EXON Missense_C25Y exm1660215 X 140993341 [T/C] NM_005462 MAGEC1 EXON Missense_L51F exm2205850 X 140993468 [A/G] NM_005462 MAGEC1 EXON Missense_Q93R exm1660233 X 140993531 [T/G] NM_005462 MAGEC1 EXON Missense_I114S exm1660235 X 140993611 [T/G] NM_005462 MAGEC1 EXON Missense_L141V exm1660240 X 140993654 [T/C] NM_005462 MAGEC1 EXON Missense_F155S exm2248636 X 140993759 [T/C] NM_005462 MAGEC1 EXON Missense_F190S exm1660274 X 140993819 [T/C] NM_005462 MAGEC1 EXON Missense_L210S exm1660416 X 140994539 [G/C] NM_005462 MAGEC1 EXON Missense_S450C exm1660441 X 140994737 [A/T] NM_005462 MAGEC1 EXON Missense_I516N exm1660472 X 140995315 [T/C] NM_005462 MAGEC1 EXON Missense_H709Y exm1660477 X 140995430 [T/G] NM_005462 MAGEC1 EXON Missense_C747F exm1660495 X 140995712 [T/G] NM_005462 MAGEC1 EXON Missense_S841I exm1660498 X 140995747 [T/A] NM_005462 MAGEC1 EXON Missense_S853C exm1660499 X 140995763 [T/C] NM_005462 MAGEC1 EXON Missense_F858S exm1660501 X 140995807 [A/C] NM_005462 MAGEC1 EXON Missense_S873R exm1660502 X 140995814 [T/C] NM_005462 MAGEC1 EXON Missense_V875A exm1660507 X 140995904 [T/C] NM_005462 MAGEC1 EXON Missense_T905I exm1660511 X 140995939 [T/C] NM_005462 MAGEC1 EXON Missense_R917W exm1660515 X 140996018 [T/C] NM_005462 MAGEC1 EXON Missense_T943M exm1660521 X 140996108 [C/G] NM_005462 MAGEC1 EXON Missense_S973C exm1660528 X 140996339 [A/C] NM_005462 MAGEC1 EXON Missense_Q1050P exm1660530 X 140996359 [T/C] NM_005462 MAGEC1 EXON Missense_R1057W exm1660531 X 140996360 [A/G] NM_005462 MAGEC1 EXON Missense_R1057Q exm1660547 X 141290780 [A/G] NM_016249 MAGEC2 EXON Missense_W332R exm1660558 X 141291096 [C/G] NM_016249 MAGEC2 EXON Missense_E226D exm2268551 X 141529072 [A/G] exm2268632 X 141642763 [A/G] exm2262984 X 141933076 [T/C] exm1660592 X 142121832 [A/G] NM_001009613 SPANXN4 EXON Missense_A34T exm1660593 X 142121876 [A/T] NM_001009613 SPANXN4 EXON Missense_K48N exm2268552 X 142436221 [A/G] exm1660604 X 142596805 [T/C] NM_001009609 SPANXN3 EXON Missense_V89I exm1660609 X 142596941 [G/C] NM_001009609 SPANXN3 EXON Missense_K43N exm1660619 X 142605203 [A/G] NM_001009609 SPANXN3 EXON Missense_S6F exm1660629 X 142716747 [T/G] NM_173078,NM_001184750,NM_001184749 SLITRK4,SLITRK4,SLITRK4 EXON Missense_D726E,Missense_D726E,Missense_D726E exm1660668 X 142718309 [T/C] NM_173078,NM_001184750,NM_001184749 SLITRK4,SLITRK4,SLITRK4 EXON Missense_V206I,Missense_V206I,Missense_V206I exm1660680 X 142718890 [A/G] NM_173078,NM_001184750,NM_001184749 SLITRK4,SLITRK4,SLITRK4 EXON Missense_L12P,Missense_L12P,Missense_L12P exm1660686 X 142795181 [T/A] NM_001009615 SPANXN2 EXON Missense_D166V exm1660687 X 142795185 [T/C] NM_001009615 SPANXN2 EXON Missense_E165K exm1660690 X 142795212 [A/G] NM_001009615 SPANXN2 EXON Missense_P156S exm1660703 X 142795380 [T/C] NM_001009615 SPANXN2 EXON Missense_E100K exm1660706 X 142795496 [A/G] NM_001009615 SPANXN2 EXON Missense_T61M exm1660719 X 142967247 [T/G] NM_001012989 UBE2NL EXON Missense_L15F exm1660724 X 142967383 [T/G] NM_001012989 UBE2NL EXON Nonsense_E61X exm1660728 X 142967468 [T/G] NM_001012989 UBE2NL EXON Nonsense_L89X exm1660735 X 142967548 [T/C] NM_001012989 UBE2NL EXON Missense_P116S exm1660738 X 142967615 [T/C] NM_001012989 UBE2NL EXON Missense_I138T exm2268633 X 143033853 [A/G] exm2268553 X 143036520 [A/G] exm2273209 X 143376663 [T/C] exm2262764 X 143692664 [A/C] exm2273210 X 144108312 [T/C] exm-rs6627057 X 144141319 [T/G] exm2262989 X 144243115 [T/G] exm1660742 X 144329128 [T/A] NM_001009614 SPANXN1 EXON Missense_I8F exm1660752 X 144337221 [T/C] NM_001009614 SPANXN1 EXON Missense_P36S exm1660753 X 144337224 [A/G] NM_001009614 SPANXN1 EXON Missense_E37K exm1660803 X 144905744 [T/C] NM_032539,NM_001144003,NM_001144005,NM_001144004,NM_001144006,NM_001144010,NM_001144009,NM_001144008 SLITRK2,SLITRK2,SLITRK2,SLITRK2,SLITRK2,SLITRK2,SLITRK2,SLITRK2 EXON Missense_S601P,Missense_S601P,Missense_S601P,Missense_S601P,Missense_S601P,Missense_S601P,Missense_S601P,Missense_S601P exm1660804 X 144905787 [A/C] NM_032539,NM_001144003,NM_001144005,NM_001144004,NM_001144006,NM_001144010,NM_001144009,NM_001144008 SLITRK2,SLITRK2,SLITRK2,SLITRK2,SLITRK2,SLITRK2,SLITRK2,SLITRK2 EXON Missense_E615A,Missense_E615A,Missense_E615A,Missense_E615A,Missense_E615A,Missense_E615A,Missense_E615A,Missense_E615A exm1660806 X 144905819 [T/C] NM_032539,NM_001144003,NM_001144005,NM_001144004,NM_001144006,NM_001144010,NM_001144009,NM_001144008 SLITRK2,SLITRK2,SLITRK2,SLITRK2,SLITRK2,SLITRK2,SLITRK2,SLITRK2 EXON Missense_L626F,Missense_L626F,Missense_L626F,Missense_L626F,Missense_L626F,Missense_L626F,Missense_L626F,Missense_L626F exm1660812 X 144906008 [T/C] NM_032539,NM_001144003,NM_001144005,NM_001144004,NM_001144006,NM_001144010,NM_001144009,NM_001144008 SLITRK2,SLITRK2,SLITRK2,SLITRK2,SLITRK2,SLITRK2,SLITRK2,SLITRK2 EXON Missense_P689S,Missense_P689S,Missense_P689S,Missense_P689S,Missense_P689S,Missense_P689S,Missense_P689S,Missense_P689S exm1660826 X 144909301 [T/G] NM_004709 TMEM257 EXON Missense_S36A exm1660830 X 144909392 [A/G] NM_004709 TMEM257 EXON Nonsense_W66X exm2273212 X 144915235 [T/C] exm2268554 X 145228622 [A/G] exm2273307 X 145544711 [T/C] exm2268555 X 145852520 [A/G] exm2273308 X 145915647 [T/C] exm2268556 X 145989730 [A/G] exm-rs5904726 X 146322623 [A/G] exm2273213 X 146673013 [T/C] exm1660980 X 147010263 [A/C] NM_001185075,NM_001185076,NM_001185081,NR_033699,NM_001185082,NR_033700,NM_002024 FMR1,FMR1,FMR1,FMR1,FMR1,FMR1,FMR1 EXON Missense_K119N,Missense_K119N,Missense_K119N,Silent,Missense_K119N,Silent,Missense_K119N exm1660982 X 147010319 [A/G] NM_001185075,NM_001185076,NM_001185081,NR_033699,NM_001185082,NR_033700,NM_002024 FMR1,FMR1,FMR1,FMR1,FMR1,FMR1,FMR1 EXON Missense_R138Q,Missense_R138Q,Missense_R138Q,Silent,Missense_R138Q,Silent,Missense_R138Q exm1660985 X 147011480 [T/G] NM_001185075,NM_001185076,NM_001185081,NR_033699,NM_001185082,NR_033700,NM_002024 FMR1,FMR1,FMR1,FMR1,FMR1,FMR1,FMR1 EXON Missense_A145S,Missense_A145S,Missense_A145S,Silent,Missense_A145S,Silent,Missense_A145S exm1660999 X 147019617 [A/G] NM_001185075,NM_001185076,NM_001185081,NR_033699,NM_001185082,NR_033700,NM_002024 FMR1,FMR1,FMR1,FMR1,FMR1,FMR1,FMR1 Silent,Silent,Silent,Silent,Silent,Silent,Silent exm1661009 X 147026489 [T/C] NM_001185075,NM_001185076,NM_001185081,NR_033699,NM_001185082,NR_033700,NM_002024 FMR1,FMR1,FMR1,FMR1,FMR1,FMR1,FMR1 EXON Missense_A434V,Synonymous_S503S,Missense_A413V,Silent,Synonymous_S478S,Silent,Synonymous_S524S exm1661046 X 147088249 [T/C] NM_152578 FMR1NB EXON Missense_A142V exm1661055 X 147106385 [T/C] NM_152578 FMR1NB EXON Synonymous_S211S exm1661058 X 147106400 [T/G] NM_152578 FMR1NB EXON Missense_D216E exm2268635 X 147136754 [A/G] exm-rs5936441 X 147324256 [T/C] exm-rs2159767 X 147381021 [T/C] exm1661063 X 147733566 [T/C] NM_002025,NM_001169123,NM_001169124,NM_001169122,NM_001169125 AFF2,AFF2,AFF2,AFF2,AFF2 EXON Missense_R32W,Missense_R32W,Missense_R32W,Missense_R32W,Missense_R32W exm1661072 X 147743744 [T/C] NM_002025,NM_001169123,NM_001169124,NM_001169122,NM_001169125 AFF2,AFF2,AFF2,AFF2,AFF2 EXON Missense_P166S,Missense_P162S,Missense_P166S,Missense_P162S,Missense_P162S exm1661079 X 147743964 [T/C] NM_002025,NM_001169123,NM_001169124,NM_001169122,NM_001169125 AFF2,AFF2,AFF2,AFF2,AFF2 EXON Missense_P239L,Missense_P235L,Missense_P239L,Missense_P235L,Missense_P235L exm1661081 X 147743984 [A/G] NM_002025,NM_001169123,NM_001169124,NM_001169122,NM_001169125 AFF2,AFF2,AFF2,AFF2,AFF2 EXON Missense_V246M,Missense_V242M,Missense_V246M,Missense_V242M,Missense_V242M exm1661090 X 147800748 [A/G] NM_002025,NM_001169123,NM_001169124,NM_001169122,NM_001169125,NM_001170628 AFF2,AFF2,AFF2,AFF2,AFF2,AFF2 EXON Silent,Silent,Silent,Silent,Silent,Missense_K15R exm1661094 X 147919181 [A/G] NM_002025,NM_001169123,NM_001169124,NM_001169122,NM_001169125,NM_001170628 AFF2,AFF2,AFF2,AFF2,AFF2,AFF2 EXON Missense_H366R,Missense_H362R,Silent,Silent,Silent,Silent exm2206159 X 147919205 [A/C] NM_002025,NM_001169123,NM_001169124,NM_001169122,NM_001169125,NM_001170628 AFF2,AFF2,AFF2,AFF2,AFF2,AFF2 EXON Missense_S374Y,Missense_S370Y,Silent,Silent,Silent,Silent exm2268636 X 147933322 [A/G] NM_002025,NM_001169123,NM_001169124,NM_001169122,NM_001169125,NM_001170628 AFF2,AFF2,AFF2,AFF2,AFF2,AFF2 Silent,Silent,Silent,Silent,Silent,Silent exm1661104 X 147967486 [A/G] NM_002025,NM_001169123,NM_001169124,NM_001169122,NM_001169125,NM_001170628 AFF2,AFF2,AFF2,AFF2,AFF2,AFF2 EXON Missense_T444A,Missense_T434A,Missense_T409A,Missense_T411A,Missense_T405A,Missense_T85A exm1661119 X 148037257 [A/C] NM_002025,NM_001169123,NM_001169124,NM_001169122,NM_001169125,NM_001170628 AFF2,AFF2,AFF2,AFF2,AFF2,AFF2 EXON Missense_P561Q,Missense_P551Q,Missense_P526Q,Missense_P528Q,Missense_P522Q,Missense_P202Q exm1661120 X 148037296 [T/C] NM_002025,NM_001169123,NM_001169124,NM_001169122,NM_001169125,NM_001170628 AFF2,AFF2,AFF2,AFF2,AFF2,AFF2 EXON Missense_T574M,Missense_T564M,Missense_T539M,Missense_T541M,Missense_T535M,Missense_T215M exm1661130 X 148037433 [A/G] NM_002025,NM_001169123,NM_001169124,NM_001169122,NM_001169125,NM_001170628 AFF2,AFF2,AFF2,AFF2,AFF2,AFF2 EXON Missense_T620A,Missense_T610A,Missense_T585A,Missense_T587A,Missense_T581A,Missense_T261A exm1661135 X 148037640 [T/C] NM_002025,NM_001169123,NM_001169124,NM_001169122,NM_001169125,NM_001170628 AFF2,AFF2,AFF2,AFF2,AFF2,AFF2 EXON Missense_P689S,Missense_P679S,Missense_P654S,Missense_P656S,Missense_P650S,Missense_P330S exm1661145 X 148039954 [C/G] NM_002025,NM_001169123,NM_001169124,NM_001169122,NM_001169125,NM_001170628 AFF2,AFF2,AFF2,AFF2,AFF2,AFF2 EXON Missense_P886A,Missense_P876A,Missense_P851A,Missense_P853A,Missense_P847A,Missense_P527A exm1661147 X 148044334 [A/G] NM_002025,NM_001169123,NM_001169124,NM_001169122,NM_001169125,NM_001170628 AFF2,AFF2,AFF2,AFF2,AFF2,AFF2 EXON Missense_R927H,Missense_R917H,Missense_R892H,Missense_R894H,Missense_R888H,Missense_R568H exm1661161 X 148048494 [A/C] NM_002025,NM_001169123,NM_001169124,NM_001169122,NM_001169125,NM_001170628 AFF2,AFF2,AFF2,AFF2,AFF2,AFF2 EXON Missense_I1030L,Missense_I1020L,Missense_I995L,Missense_I995L,Missense_I991L,Missense_I671L exm2206184 X 148048609 [T/C] NM_002025,NM_001169123,NM_001169124,NM_001169122,NM_001169125,NM_001170628 AFF2,AFF2,AFF2,AFF2,AFF2,AFF2 EXON Missense_S1068L,Missense_S1058L,Missense_S1033L,Missense_S1033L,Missense_S1029L,Missense_S709L exm1661190 X 148072845 [A/G] NM_002025,NM_001169123,NM_001169124,NM_001169122,NM_001169125,NM_001170628 AFF2,AFF2,AFF2,AFF2,AFF2,AFF2 EXON Missense_D1307N,Missense_D1297N,Missense_D1272N,Missense_D1272N,Missense_D1268N,Missense_D948N exm1661203 X 148564440 [T/C] NM_000202,NM_001166550 IDS,IDS EXON Missense_Y497C,Missense_Y407C exm-rs530501 X 148567451 [T/C] NM_000202,NM_001166550 IDS,IDS Silent,Silent exm1661222 X 148571914 [A/G] NM_000202,NM_001166550,NM_006123 IDS,IDS,IDS EXON Missense_R313C,Missense_R223C,Missense_R313C exm1661225 X 148571926 [T/C] NM_000202,NM_001166550,NM_006123 IDS,IDS,IDS EXON Missense_T309A,Missense_T219A,Missense_T309A exm1661226 X 148571967 [T/C] NM_000202,NM_001166550,NM_006123 IDS,IDS,IDS EXON Missense_K295R,Missense_K205R,Missense_K295R exm1661247 X 148578002 [T/C] NM_000202,NM_001166550,NM_006123 IDS,IDS,IDS EXON Missense_D252N,Missense_D162N,Missense_D252N exm1661251 X 148579679 [T/C] NM_000202,NM_001166550,NM_006123 IDS,IDS,IDS EXON Missense_V223I,Missense_V133I,Missense_V223I exm1661259 X 148582520 [T/G] NM_000202,NM_001166550,NM_006123 IDS,IDS,IDS EXON Missense_P156Q,Missense_P66Q,Missense_P156Q exm1661260 X 148582522 [T/A] NM_000202,NM_001166550,NM_006123 IDS,IDS,IDS EXON Missense_F155L,Missense_F65L,Missense_F155L exm1661263 X 148582542 [A/C] NM_000202,NM_001166550,NM_006123 IDS,IDS,IDS EXON Missense_S149A,Missense_S59A,Missense_S149A exm1661279 X 148585823 [T/C] NM_000202,NM_001166550,NM_006123 IDS,IDS,IDS EXON Missense_D35G,Silent,Missense_D35G exm1661359 X 148690507 [A/G] NM_032508,NM_001174092 TMEM185A,TMEM185A EXON Missense_T77M,Missense_T18M exm1661369 X 148794830 [A/C] NM_001011544,NM_005366 MAGEA11,MAGEA11 EXON Silent,Missense_Q4P exm1661381 X 148797426 [A/C] NM_001011544,NM_005366 MAGEA11,MAGEA11 EXON Missense_I65L,Missense_I94L exm1661389 X 148797534 [A/G] NM_001011544,NM_005366 MAGEA11,MAGEA11 EXON Missense_E101K,Missense_E130K exm1661390 X 148797558 [T/G] NM_001011544,NM_005366 MAGEA11,MAGEA11 EXON Missense_A109S,Missense_A138S exm1661395 X 148797719 [A/C] NM_001011544,NM_005366 MAGEA11,MAGEA11 EXON Missense_S162R,Missense_S191R exm1661399 X 148797899 [T/A] NM_001011544,NM_005366 MAGEA11,MAGEA11 EXON Missense_S222R,Missense_S251R exm1661410 X 148798267 [T/G] NM_001011544,NM_005366 MAGEA11,MAGEA11 EXON Missense_V345G,Missense_V374G exm1661463 X 149013071 [T/C] NM_001166401,NM_001166400,NM_005364 MAGEA8,MAGEA8,MAGEA8 EXON Missense_R9C,Missense_R9C,Missense_R9C exm1661465 X 149013083 [A/G] NM_001166401,NM_001166400,NM_005364 MAGEA8,MAGEA8,MAGEA8 EXON Missense_E13K,Missense_E13K,Missense_E13K exm1661470 X 149013203 [T/G] NM_001166401,NM_001166400,NM_005364 MAGEA8,MAGEA8,MAGEA8 EXON Missense_V53L,Missense_V53L,Missense_V53L exm1661473 X 149013249 [T/C] NM_001166401,NM_001166400,NM_005364 MAGEA8,MAGEA8,MAGEA8 EXON Missense_A68V,Missense_A68V,Missense_A68V exm1661475 X 149013395 [A/G] NM_001166401,NM_001166400,NM_005364 MAGEA8,MAGEA8,MAGEA8 EXON Missense_A117T,Missense_A117T,Missense_A117T exm1661480 X 149013489 [A/G] NM_001166401,NM_001166400,NM_005364 MAGEA8,MAGEA8,MAGEA8 EXON Missense_N148S,Missense_N148S,Missense_N148S exm1661492 X 149013963 [T/C] NM_001166401,NM_001166400,NM_005364 MAGEA8,MAGEA8,MAGEA8 EXON Missense_S306F,Missense_S306F,Missense_S306F exm2268637 X 149182284 [A/G] NR_027456 LOC100272228 Silent exm2273309 X 149498146 [T/C] exm2273216 X 149539583 [T/C] NM_001177465 MAMLD1 Silent exm1661555 X 149613805 [T/C] NM_001177465,NM_001177466,NM_005491 MAMLD1,MAMLD1,MAMLD1 EXON Missense_L8P,Missense_L8P,Missense_L8P exm1661572 X 149638206 [A/G] NM_001177465,NM_001177466,NM_005491 MAMLD1,MAMLD1,MAMLD1 EXON Missense_A96T,Missense_A96T,Missense_A121T exm1661575 X 149638296 [A/G] NM_001177465,NM_001177466,NM_005491 MAMLD1,MAMLD1,MAMLD1 EXON Missense_T126A,Missense_T126A,Missense_T151A exm1661591 X 149638771 [T/C] NM_001177465,NM_001177466,NM_005491 MAMLD1,MAMLD1,MAMLD1 EXON Missense_A284V,Missense_A284V,Missense_A309V exm1661595 X 149638920 [T/C] NM_001177465,NM_001177466,NM_005491 MAMLD1,MAMLD1,MAMLD1 EXON Missense_P334S,Missense_P334S,Missense_P359S exm1661601 X 149639136 [T/C] NM_001177465,NM_001177466,NM_005491 MAMLD1,MAMLD1,MAMLD1 EXON Missense_L406F,Missense_L406F,Missense_L431F exm1661610 X 149639359 [T/C] NM_001177465,NM_001177466,NM_005491 MAMLD1,MAMLD1,MAMLD1 EXON Missense_V480A,Missense_V480A,Missense_V505A exm2206328 X 149639544 [T/C] NM_001177465,NM_001177466,NM_005491 MAMLD1,MAMLD1,MAMLD1 EXON Missense_P542S,Missense_P542S,Missense_P567S exm1661620 X 149639649 [A/C] NM_001177465,NM_001177466,NM_005491 MAMLD1,MAMLD1,MAMLD1 EXON Missense_Q577K,Missense_Q577K,Missense_Q602K exm1661624 X 149639713 [A/G] NM_001177465,NM_001177466,NM_005491 MAMLD1,MAMLD1,MAMLD1 EXON Missense_R598H,Missense_R598H,Missense_R623H exm2268558 X 149718322 [A/G] exm1661659 X 149761114 [T/C] NM_000252 MTM1 EXON Missense_S13F exm1661713 X 149896168 [A/G] NM_003828 MTMR1 EXON Missense_I146V exm2248649 X 149901084 [A/G] NM_003828 MTMR1 EXON Missense_N313S exm2206390 X 149931074 [A/G] NM_003828 MTMR1 EXON Missense_V624I exm1661748 X 149931185 [A/G] NM_003828 MTMR1 EXON Missense_V661I exm1661759 X 149937538 [A/G] NM_001184808,NM_134445,NM_031462,NM_134446,NM_001242614 CD99L2,CD99L2,CD99L2,CD99L2,CD99L2 EXON Missense_P180L,Missense_P181L,Missense_P253L,Missense_P204L,Missense_P263L exm1661764 X 149937565 [G/C] NM_001184808,NM_134445,NM_031462,NM_134446,NM_001242614 CD99L2,CD99L2,CD99L2,CD99L2,CD99L2 EXON Missense_S171C,Missense_S172C,Missense_S244C,Missense_S195C,Missense_S254C exm1661773 X 149944698 [T/C] NM_001184808,NM_134445,NM_031462,NM_134446,NM_001242614 CD99L2,CD99L2,CD99L2,CD99L2,CD99L2 EXON Missense_V129I,Missense_V130I,Missense_V202I,Missense_V153I,Missense_V206I exm1661777 X 149945922 [T/C] NM_001184808,NM_134445,NM_031462,NM_134446,NM_001242614 CD99L2,CD99L2,CD99L2,CD99L2,CD99L2 EXON Missense_G104E,Missense_G105E,Missense_G177E,Missense_G128E,Missense_G181E exm1661788 X 149963926 [T/C] NM_001184808,NM_134445,NM_031462,NM_134446,NM_001242614 CD99L2,CD99L2,CD99L2,CD99L2,CD99L2 EXON Silent,Silent,Missense_R104K,Missense_R55K,Missense_R108K exm1661790 X 149963947 [T/C] NM_001184808,NM_134445,NM_031462,NM_134446,NM_001242614 CD99L2,CD99L2,CD99L2,CD99L2,CD99L2 EXON Silent,Silent,Missense_H97R,Missense_H48R,Missense_H101R exm2273217 X 150316905 [T/G] exm1661825 X 150345354 [C/G] NM_004224 GPR50 EXON Missense_T54R exm1661844 X 150348641 [A/C] NM_004224 GPR50 EXON Missense_H196N exm1661855 X 150349044 [A/C] NM_004224 GPR50 EXON Missense_Q330P exm1661864 X 150349151 [T/C] NM_004224 GPR50 EXON Missense_R366W exm1661881 X 150349560 [T/C] NM_004224 GPR50 EXON Missense_T502I exm1661886 X 150349569 [A/C] NM_004224 GPR50 EXON Missense_H505P exm1661890 X 150349649 [A/G] NM_004224 GPR50 EXON Missense_T532A exm2206436 X 150349711 [A/C] NM_004224 GPR50 EXON Missense_H552Q exm1661896 X 150349755 [T/C] NM_004224 GPR50 EXON Missense_P567L exm1661897 X 150349865 [A/G] NM_004224 GPR50 EXON Missense_V604M exm1661898 X 150349871 [A/G] NM_004224 GPR50 EXON Missense_I606V exm1661904 X 150572125 [A/G] NM_001017980 VMA21 EXON Missense_T26A exm1661909 X 150573389 [T/C] NM_001017980 VMA21 EXON Synonymous_G55G exm1661911 X 150573406 [A/G] NM_001017980 VMA21 EXON Missense_N61S exm1661922 X 150773128 [A/T] NM_173493 PASD1 EXON Missense_N13K exm1661923 X 150773145 [A/G] NM_173493 PASD1 EXON Missense_R19K exm2248652 X 150780164 [A/G] NM_173493 PASD1 EXON Missense_S49N exm2206461 X 150789998 [A/G] NM_173493 PASD1 EXON Missense_E118K exm1661942 X 150793957 [T/C] NM_173493 PASD1 EXON Missense_V195A exm2248653 X 150793965 [A/C] NM_173493 PASD1 EXON Missense_Q198K exm1661955 X 150817170 [T/C] NM_173493 PASD1 EXON Missense_S238L exm1661958 X 150828239 [A/G] NM_173493 PASD1 EXON Missense_M258V exm1661959 X 150832615 [A/G] NM_173493 PASD1 EXON Missense_G289D exm1661960 X 150832626 [A/G] NM_173493 PASD1 EXON Missense_V293M exm1661964 X 150832707 [A/G] NM_173493 PASD1 EXON Missense_M320V exm1661965 X 150832716 [G/C] NM_173493 PASD1 EXON Missense_Q323E exm1661967 X 150832732 [A/C] NM_173493 PASD1 EXON Missense_P328Q exm1661972 X 150839594 [A/G] NM_173493 PASD1 EXON Missense_E386K exm1661975 X 150839651 [A/G] NM_173493 PASD1 EXON Missense_M405V exm1661979 X 150840063 [T/C] NM_173493 PASD1 EXON Missense_R417C exm1661984 X 150840145 [A/G] NM_173493 PASD1 EXON Missense_R444Q exm1661986 X 150840168 [A/G] NM_173493 PASD1 EXON Missense_V452I exm1661995 X 150840690 [T/G] NM_173493 PASD1 EXON Missense_E491D exm1661996 X 150840695 [A/T] NM_173493 PASD1 EXON Missense_Q493L exm1661998 X 150840698 [A/G] NM_173493 PASD1 EXON Missense_R494Q exm1662001 X 150840707 [A/G] NM_173493 PASD1 EXON Missense_R497Q exm1662008 X 150840742 [A/G] NM_173493 PASD1 EXON Missense_V509M exm1662013 X 150840844 [G/C] NM_173493 PASD1 EXON Missense_L543V exm1662021 X 150840962 [A/G] NM_173493 PASD1 EXON Missense_R582K exm1662024 X 150840994 [A/G] NM_173493 PASD1 EXON Missense_V593I exm1662027 X 150841076 [A/G] NM_173493 PASD1 EXON Missense_Q620R exm1662036 X 150842506 [A/C] NM_173493 PASD1 EXON Missense_T675P exm1662043 X 150842630 [T/C] NM_173493 PASD1 EXON Missense_T716I exm1662046 X 150844560 [T/C] NM_173493 PASD1 EXON Missense_A756V exm1662075 X 150869132 [T/C] NM_024082,NR_033262 PRRG3,PRRG3 EXON Missense_A108V,Silent exm1662077 X 150869179 [T/C] NM_024082,NR_033262 PRRG3,PRRG3 EXON Missense_R124C,Silent exm1662083 X 150869267 [A/G] NM_024082,NR_033262 PRRG3,PRRG3 EXON Missense_N153S,Silent exm1662084 X 150869273 [T/C] NM_024082,NR_033262 PRRG3,PRRG3 EXON Missense_P155L,Silent exm1662086 X 150869297 [A/G] NM_024082,NR_033262 PRRG3,PRRG3 EXON Missense_R163Q,Silent exm1662096 X 150869455 [T/C] NM_024082,NR_033262 PRRG3,PRRG3 EXON Missense_P216S,Silent exm1662098 X 150869494 [A/G] NM_024082,NR_033262 PRRG3,PRRG3 EXON Missense_A229T,Silent exm1662118 X 150884620 [T/C] NM_033085 FATE1 EXON Missense_A10V exm1662121 X 150885765 [A/G] NM_033085 FATE1 EXON Missense_R43Q exm1662127 X 150889930 [G/C] NM_033085 FATE1 EXON Missense_E100Q exm1662128 X 150889958 [A/G] NM_033085 FATE1 EXON Missense_R109H exm1662131 X 150890398 [T/C] NM_033085 FATE1 EXON Missense_A122V exm1662136 X 150891115 [T/C] NM_033085 FATE1 EXON Missense_R146W exm1662145 X 150906999 [A/C] NM_005140 CNGA2 EXON Missense_N15T exm1662147 X 150907061 [A/G] NM_005140 CNGA2 EXON Missense_S36G exm1662154 X 150908041 [T/C] NM_005140 CNGA2 EXON Missense_R71C exm1662159 X 150908168 [T/G] NM_005140 CNGA2 EXON Missense_G113V exm1662160 X 150908182 [G/C] NM_005140 CNGA2 EXON Missense_D118H exm1662167 X 150909285 [T/G] NM_005140 CNGA2 EXON Missense_V132F exm1662169 X 150909307 [T/G] NM_005140 CNGA2 EXON Missense_W139L exm1662172 X 150909342 [A/G] NM_005140 CNGA2 EXON Missense_V151I exm1662173 X 150909370 [G/C] NM_005140 CNGA2 EXON Missense_A160G exm1662175 X 150911055 [T/G] NM_005140 CNGA2 EXON Missense_V177G exm1662191 X 150911796 [A/G] NM_005140 CNGA2 EXON Missense_R274H exm1662195 X 150911856 [A/G] NM_005140 CNGA2 EXON Missense_Y294C exm1662202 X 150912056 [A/G] NM_005140 CNGA2 EXON Missense_V361I exm1662207 X 150912155 [T/C] NM_005140 CNGA2 EXON Missense_H394Y exm1662211 X 150912171 [A/G] NM_005140 CNGA2 EXON Missense_R399Q exm2206538 X 150912353 [A/G] NM_005140 CNGA2 EXON Missense_A460T exm1662217 X 150912368 [C/G] NM_005140 CNGA2 EXON Missense_E465Q exm1662229 X 150912581 [T/C] NM_005140 CNGA2 EXON Missense_R536C exm1662231 X 150912633 [A/G] NM_005140 CNGA2 EXON Missense_K553R exm1662236 X 150912705 [T/G] NM_005140 CNGA2 EXON Missense_I577S exm1662247 X 150912962 [A/G] NM_005140 CNGA2 EXON Missense_E663K exm2273218 X 151022400 [T/C] exm1662260 X 151092191 [G/C] NM_001011548,NM_002362,NM_001011549,NM_001011550 MAGEA4,MAGEA4,MAGEA4,MAGEA4 EXON Missense_Q19E,Missense_Q19E,Missense_Q19E,Missense_Q19E exm1662264 X 151092227 [T/C] NM_001011548,NM_002362,NM_001011549,NM_001011550 MAGEA4,MAGEA4,MAGEA4,MAGEA4 EXON Missense_P31S,Missense_P31S,Missense_P31S,Missense_P31S exm1662267 X 151092264 [C/G] NM_001011548,NM_002362,NM_001011549,NM_001011550 MAGEA4,MAGEA4,MAGEA4,MAGEA4 EXON Missense_S43C,Missense_S43C,Missense_S43C,Missense_S43C exm2206551 X 151092339 [A/G] NM_001011548,NM_002362,NM_001011549,NM_001011550 MAGEA4,MAGEA4,MAGEA4,MAGEA4 EXON Missense_G68E,Missense_G68E,Missense_G68E,Missense_G68E exm1662279 X 151092536 [A/G] NM_001011548,NM_002362,NM_001011549,NM_001011550 MAGEA4,MAGEA4,MAGEA4,MAGEA4 EXON Missense_A134T,Missense_A134T,Missense_A134T,Missense_A134T exm1662289 X 151092707 [G/C] NM_001011548,NM_002362,NM_001011549,NM_001011550 MAGEA4,MAGEA4,MAGEA4,MAGEA4 EXON Missense_L191V,Missense_L191V,Missense_L191V,Missense_L191V exm1662309 X 151092945 [A/G] NM_001011548,NM_002362,NM_001011549,NM_001011550 MAGEA4,MAGEA4,MAGEA4,MAGEA4 EXON Missense_Y270C,Missense_Y270C,Missense_Y270C,Missense_Y270C exm1662312 X 151093082 [A/G] NM_001011548,NM_002362,NM_001011549,NM_001011550 MAGEA4,MAGEA4,MAGEA4,MAGEA4 EXON Missense_G316R,Missense_G316R,Missense_G316R,Missense_G316R exm1662318 X 151123258 [A/C] NM_004961 GABRE EXON Missense_R479L exm1662319 X 151123279 [T/C] NM_004961 GABRE EXON Missense_R472H exm1662323 X 151123340 [C/G] NM_004961 GABRE EXON Missense_R452G exm1662326 X 151123384 [A/G] NM_004961 GABRE EXON Missense_P437L exm2206566 X 151123432 [A/G] NM_004961 GABRE EXON Missense_P421L exm1662331 X 151123435 [T/C] NM_004961 GABRE EXON Missense_R420H exm1662340 X 151123863 [A/G] NM_004961 GABRE EXON Missense_H372Y exm1662343 X 151123944 [T/C] NM_004961 GABRE EXON Missense_A345T exm1662349 X 151124284 [C/G] NM_004961 GABRE EXON Missense_G278A exm1662373 X 151138176 [T/C] NM_004961 GABRE EXON Missense_V103I exm1662374 X 151138179 [A/C] NM_004961 GABRE EXON Missense_S102A exm1662379 X 151138671 [T/C] NM_004961 GABRE EXON Missense_R87H exm1662380 X 151138735 [T/C] NM_004961 GABRE EXON Missense_G66S exm1662381 X 151138744 [T/G] NM_004961 GABRE EXON Missense_S63R exm1662384 X 151138764 [A/G] NM_004961 GABRE EXON Missense_S56L exm1662385 X 151138777 [T/C] NM_004961 GABRE EXON Missense_E52K exm1662386 X 151138818 [T/C] NM_004961 GABRE EXON Missense_Y38C exm1662387 X 151138831 [A/G] NM_004961 GABRE EXON Missense_R34C exm2268559 X 151158776 [A/G] exm1662401 X 151283765 [T/G] NM_001204811,NM_021049 MAGEA10-MAGEA5,MAGEA5 EXON Missense_S83Y,Missense_S83Y exm1662409 X 151283942 [A/C] NM_001204811,NM_021049 MAGEA10-MAGEA5,MAGEA5 EXON Missense_G24V,Missense_G24V exm1662416 X 151303012 [T/C] NM_001204811,NM_001011543,NM_021048,NM_001251828 MAGEA10-MAGEA5,MAGEA10,MAGEA10,MAGEA10 EXON Silent,Missense_A361T,Missense_A361T,Missense_A361T exm2206597 X 151303239 [T/C] NM_001204811,NM_001011543,NM_021048,NM_001251828 MAGEA10-MAGEA5,MAGEA10,MAGEA10,MAGEA10 EXON Silent,Missense_Q285R,Missense_Q285R,Missense_Q285R exm1662425 X 151303393 [T/C] NM_001204811,NM_001011543,NM_021048,NM_001251828 MAGEA10-MAGEA5,MAGEA10,MAGEA10,MAGEA10 EXON Silent,Missense_V234I,Missense_V234I,Missense_V234I exm1662426 X 151303446 [T/C] NM_001204811,NM_001011543,NM_021048,NM_001251828 MAGEA10-MAGEA5,MAGEA10,MAGEA10,MAGEA10 EXON Silent,Missense_S216N,Missense_S216N,Missense_S216N exm1662432 X 151303596 [T/C] NM_001204811,NM_001011543,NM_021048,NM_001251828 MAGEA10-MAGEA5,MAGEA10,MAGEA10,MAGEA10 EXON Silent,Missense_R166K,Missense_R166K,Missense_R166K exm1662439 X 151303980 [A/G] NM_001204811,NM_001011543,NM_021048,NM_001251828 MAGEA10-MAGEA5,MAGEA10,MAGEA10,MAGEA10 EXON Silent,Missense_A38V,Missense_A38V,Missense_A38V exm1662473 X 151533009 [T/A] NM_000808 GABRA3 EXON Missense_T12S exm2262774 X 151622915 [T/G] exm1662489 X 151808874 [T/C] NM_018558 GABRQ EXON Missense_I62T exm1662514 X 151820214 [A/G] NM_018558 GABRQ EXON Missense_R376H exm1662529 X 151821362 [T/C] NM_018558 GABRQ EXON Missense_S506L exm2268560 X 151827568 [A/G] exm1662666 X 151900679 [T/G] NR_073432,NM_001166386,NM_001166387,NM_005367 CSAG4,MAGEA12,MAGEA12,MAGEA12 EXON Silent,Missense_S41Y,Missense_S41Y,Missense_S41Y exm1662688 X 151909156 [A/G] NM_153478,NM_001102576 CSAG1,CSAG1 EXON Missense_K62R,Missense_K62R exm1662718 X 151935240 [A/C] NM_005362 MAGEA3 EXON Missense_L309F exm1662730 X 151935380 [T/C] NM_005362 MAGEA3 EXON Missense_G263S exm1662778 X 151996399 [T/G] NM_004344 CETN2 EXON Missense_T169P exm1662797 X 151998253 [T/C] NM_004344 CETN2 EXON Missense_M19V exm1662809 X 152014893 [A/G] NM_001129765,NM_015922 NSDHL,NSDHL EXON Missense_M9V,Missense_M9V exm1662813 X 152014912 [A/G] NM_001129765,NM_015922 NSDHL,NSDHL EXON Missense_R15Q,Missense_R15Q exm2206699 X 152018813 [A/G] NM_001129765,NM_015922 NSDHL,NSDHL EXON Missense_K38R,Missense_K38R exm1662825 X 152027329 [G/C] NM_001129765,NM_015922 NSDHL,NSDHL EXON Missense_L95V,Missense_L95V exm1662829 X 152027402 [A/G] NM_001129765,NM_015922 NSDHL,NSDHL EXON Missense_R119K,Missense_R119K exm1662835 X 152034411 [A/C] NM_001129765,NM_015922 NSDHL,NSDHL EXON Missense_I198L,Missense_I198L exm1662837 X 152034468 [A/G] NM_001129765,NM_015922 NSDHL,NSDHL EXON Missense_E217K,Missense_E217K exm1662847 X 152037379 [T/C] NM_001129765,NM_015922 NSDHL,NSDHL EXON Missense_R281C,Missense_R281C exm1662850 X 152037431 [T/G] NM_001129765,NM_015922 NSDHL,NSDHL EXON Missense_W298L,Missense_W298L exm1662861 X 152037625 [A/G] NM_001129765,NM_015922 NSDHL,NSDHL EXON Missense_V363M,Missense_V363M exm1662862 X 152037646 [T/C] NM_001129765,NM_015922 NSDHL,NSDHL EXON Missense_R370W,Missense_R370W exm1662863 X 152037647 [A/G] NM_001129765,NM_015922 NSDHL,NSDHL EXON Missense_R370Q,Missense_R370Q exm1662866 X 152083059 [A/G] NM_001178109,NM_001178107,NM_007150,NM_001178110,NM_001178106,NM_001178108 ZNF185,ZNF185,ZNF185,ZNF185,ZNF185,ZNF185 EXON Missense_R9H,Missense_R9H,Missense_R9H,Missense_R9H,Missense_R9H,Missense_R9H exm1662872 X 152083370 [T/C] NM_001178109,NM_001178107,NM_007150,NM_001178110,NM_001178106,NM_001178108 ZNF185,ZNF185,ZNF185,ZNF185,ZNF185,ZNF185 EXON Missense_R51C,Missense_R51C,Missense_R51C,Missense_R51C,Missense_R51C,Missense_R51C exm2206726 X 152089291 [A/G] NM_001178109,NM_001178107,NM_007150,NM_001178110,NM_001178106,NM_001178108,NM_001178113 ZNF185,ZNF185,ZNF185,ZNF185,ZNF185,ZNF185,ZNF185 EXON Missense_R218G,Missense_R218G,Missense_R218G,Missense_R218G,Missense_R218G,Missense_R219G,Missense_R56G exm1662894 X 152090767 [T/C] NM_001178109,NM_001178107,NM_007150,NM_001178110,NM_001178106,NM_001178108,NM_001178113 ZNF185,ZNF185,ZNF185,ZNF185,ZNF185,ZNF185,ZNF185 EXON Missense_P235L,Missense_P235L,Missense_P235L,Missense_P235L,Missense_P235L,Missense_P236L,Missense_P73L exm1662900 X 152097151 [T/C] NM_001178109,NM_001178107,NM_007150,NM_001178110,NM_001178106,NM_001178108,NM_001178113 ZNF185,ZNF185,ZNF185,ZNF185,ZNF185,ZNF185,ZNF185 EXON Silent,Silent,Missense_I287T,Silent,Missense_I287T,Missense_I288T,Silent exm1662901 X 152097177 [G/C] NM_001178109,NM_001178107,NM_007150,NM_001178110,NM_001178106,NM_001178108,NM_001178113 ZNF185,ZNF185,ZNF185,ZNF185,ZNF185,ZNF185,ZNF185 EXON Silent,Silent,Missense_L296V,Silent,Missense_L296V,Missense_L297V,Silent exm1662902 X 152101415 [A/C] NM_001178109,NM_001178107,NM_007150,NM_001178110,NM_001178106,NM_001178108,NM_001178113 ZNF185,ZNF185,ZNF185,ZNF185,ZNF185,ZNF185,ZNF185 Silent,Silent,Silent,Silent,Silent,Silent,Silent exm2277415 X 152101454 [A/G] NM_001178109,NM_001178107,NM_007150,NM_001178110,NM_001178106,NM_001178108,NM_001178113 ZNF185,ZNF185,ZNF185,ZNF185,ZNF185,ZNF185,ZNF185 EXON Missense_G324R,Missense_G324R,Missense_G353R,Missense_G294R,Missense_G353R,Missense_G354R,Missense_G132R exm1662907 X 152101499 [A/G] NM_001178109,NM_001178107,NM_007150,NM_001178110,NM_001178106,NM_001178108,NM_001178113 ZNF185,ZNF185,ZNF185,ZNF185,ZNF185,ZNF185,ZNF185 EXON Missense_G339S,Missense_G339S,Missense_G368S,Missense_G309S,Missense_G368S,Missense_G369S,Missense_G147S exm1662908 X 152101516 [A/G] NM_001178109,NM_001178107,NM_007150,NM_001178110,NM_001178106,NM_001178108,NM_001178113 ZNF185,ZNF185,ZNF185,ZNF185,ZNF185,ZNF185,ZNF185 Silent,Silent,Silent,Silent,Silent,Silent,Silent exm2248662 X 152104999 [A/G] NM_001178109,NM_001178107,NM_007150,NM_001178110,NM_001178106,NM_001178108,NM_001178113 ZNF185,ZNF185,ZNF185,ZNF185,ZNF185,ZNF185,ZNF185 EXON Silent,Missense_D357N,Silent,Silent,Missense_D386N,Silent,Silent exm1662920 X 152128356 [T/A] NM_001178109,NM_001178107,NM_007150,NM_001178110,NM_001178106,NM_001178108,NM_001178113,NM_001178115 ZNF185,ZNF185,ZNF185,ZNF185,ZNF185,ZNF185,ZNF185,ZNF185 EXON Missense_Q478L,Missense_Q510L,Missense_Q507L,Missense_Q448L,Missense_Q539L,Missense_Q508L,Missense_Q286L,Missense_Q145L exm1662926 X 152134019 [A/G] NM_001178109,NM_001178107,NM_007150,NM_001178110,NM_001178106,NM_001178108,NM_001178113,NM_001178115 ZNF185,ZNF185,ZNF185,ZNF185,ZNF185,ZNF185,ZNF185,ZNF185 EXON Missense_V553M,Missense_V585M,Missense_V582M,Missense_V523M,Missense_V614M,Missense_V583M,Missense_V361M,Missense_V220M exm1662931 X 152137975 [T/C] NM_001178109,NM_001178107,NM_007150,NM_001178110,NM_001178106,NM_001178108,NM_001178113,NM_001178115 ZNF185,ZNF185,ZNF185,ZNF185,ZNF185,ZNF185,ZNF185,ZNF185 EXON Missense_P611S,Missense_P643S,Missense_P640S,Missense_P581S,Missense_P672S,Missense_P641S,Missense_P419S,Missense_P278S exm2206758 X 152137981 [A/G] NM_001178109,NM_001178107,NM_007150,NM_001178110,NM_001178106,NM_001178108,NM_001178113,NM_001178115 ZNF185,ZNF185,ZNF185,ZNF185,ZNF185,ZNF185,ZNF185,ZNF185 EXON Missense_I613V,Missense_I645V,Missense_I642V,Missense_I583V,Missense_I674V,Missense_I643V,Missense_I421V,Missense_I280V exm1662937 X 152139042 [A/G] NM_001178109,NM_001178107,NM_007150,NM_001178110,NM_001178106,NM_001178108,NM_001178113,NM_001178115 ZNF185,ZNF185,ZNF185,ZNF185,ZNF185,ZNF185,ZNF185,ZNF185 EXON Missense_R647H,Missense_R679H,Missense_R676H,Missense_R617H,Missense_R708H,Missense_R677H,Missense_R455H,Missense_R314H exm2277416 X 152158891 [T/A] NM_001103151,NM_001184924,NM_001103150,NM_052926 PNMA5,PNMA5,PNMA5,PNMA5 EXON Missense_T418S,Missense_T418S,Missense_T418S,Missense_T418S exm1662943 X 152158981 [C/G] NM_001103151,NM_001184924,NM_001103150,NM_052926 PNMA5,PNMA5,PNMA5,PNMA5 EXON Missense_P388A,Missense_P388A,Missense_P388A,Missense_P388A exm1662947 X 152159097 [T/C] NM_001103151,NM_001184924,NM_001103150,NM_052926 PNMA5,PNMA5,PNMA5,PNMA5 EXON Missense_R349Q,Missense_R349Q,Missense_R349Q,Missense_R349Q exm1662948 X 152159202 [C/G] NM_001103151,NM_001184924,NM_001103150,NM_052926 PNMA5,PNMA5,PNMA5,PNMA5 EXON Missense_C314S,Missense_C314S,Missense_C314S,Missense_C314S exm1662953 X 152159254 [T/C] NM_001103151,NM_001184924,NM_001103150,NM_052926 PNMA5,PNMA5,PNMA5,PNMA5 EXON Missense_A297T,Missense_A297T,Missense_A297T,Missense_A297T exm1662954 X 152159299 [A/G] NM_001103151,NM_001184924,NM_001103150,NM_052926 PNMA5,PNMA5,PNMA5,PNMA5 EXON Missense_R282C,Missense_R282C,Missense_R282C,Missense_R282C exm1662957 X 152159323 [T/C] NM_001103151,NM_001184924,NM_001103150,NM_052926 PNMA5,PNMA5,PNMA5,PNMA5 EXON Missense_V274M,Missense_V274M,Missense_V274M,Missense_V274M exm1662975 X 152159857 [A/G] NM_001103151,NM_001184924,NM_001103150,NM_052926 PNMA5,PNMA5,PNMA5,PNMA5 EXON Missense_R96C,Missense_R96C,Missense_R96C,Missense_R96C exm1662979 X 152160001 [T/C] NM_001103151,NM_001184924,NM_001103150,NM_052926 PNMA5,PNMA5,PNMA5,PNMA5 EXON Missense_A48T,Missense_A48T,Missense_A48T,Missense_A48T exm1662981 X 152160010 [A/G] NM_001103151,NM_001184924,NM_001103150,NM_052926 PNMA5,PNMA5,PNMA5,PNMA5 EXON Missense_P45S,Missense_P45S,Missense_P45S,Missense_P45S exm1662982 X 152160022 [T/C] NM_001103151,NM_001184924,NM_001103150,NM_052926 PNMA5,PNMA5,PNMA5,PNMA5 EXON Missense_A41T,Missense_A41T,Missense_A41T,Missense_A41T exm1662983 X 152160034 [T/C] NM_001103151,NM_001184924,NM_001103150,NM_052926 PNMA5,PNMA5,PNMA5,PNMA5 EXON Missense_D37N,Missense_D37N,Missense_D37N,Missense_D37N exm2268561 X 152197812 [A/G] exm1662986 X 152225440 [T/A] NM_013364 PNMA3 EXON Missense_C10S exm1662997 X 152225889 [A/G] NM_013364 PNMA3 EXON Missense_M159I exm1662999 X 152225930 [C/G] NM_013364 PNMA3 EXON Missense_S173C exm1663008 X 152226277 [A/G] NM_013364 PNMA3 EXON Missense_V289M exm1663015 X 152226542 [T/C] NM_013364 PNMA3 EXON Missense_V377A exm1663016 X 152226556 [A/G] NM_013364 PNMA3 EXON Missense_G382S exm1663017 X 152226562 [T/C] NM_013364 PNMA3 EXON Missense_R384W exm1663018 X 152226566 [A/G] NM_013364 PNMA3 EXON Missense_R385H exm1663019 X 152226569 [A/G] NM_013364 PNMA3 EXON Missense_R386Q exm1663025 X 152226684 [G/C] NM_013364 PNMA3 EXON Missense_R424S exm1663026 X 152226695 [T/C] NM_013364 PNMA3 EXON Missense_I428T exm1663028 X 152226742 [A/G] NM_013364 PNMA3 EXON Missense_V444I exm1663085 X 152482119 [C/G] NM_004988 MAGEA1 EXON Missense_R298G exm1663100 X 152482609 [T/G] NM_004988 MAGEA1 EXON Missense_K134N exm1663105 X 152482712 [A/G] NM_004988 MAGEA1 EXON Missense_A100V exm1663109 X 152482796 [T/C] NM_004988 MAGEA1 EXON Missense_R72Q exm1663113 X 152482901 [A/G] NM_004988 MAGEA1 EXON Missense_P37L exm2273219 X 152602717 [T/C] NM_001080485 ZNF275 Silent exm2248665 X 152612289 [T/C] NM_001080485 ZNF275 EXON Missense_A49V exm1663154 X 152612671 [C/G] NM_001080485 ZNF275 EXON Missense_R176S exm1663158 X 152612801 [A/G] NM_001080485 ZNF275 EXON Missense_V220I exm1663232 X 152710348 [A/G] NM_080701 TREX2 EXON Missense_R181W exm1663246 X 152710480 [A/G] NM_080701 TREX2 EXON Missense_R137C exm1663252 X 152710624 [A/G] NM_080701 TREX2 EXON Missense_R89W exm1663253 X 152710629 [T/C] NM_080701 TREX2 EXON Missense_R87Q exm1663254 X 152710630 [A/G] NM_080701 TREX2 EXON Nonsense_R87X exm1663260 X 152710713 [T/C] NM_080701 TREX2 EXON Missense_K59R exm1663268 X 152710845 [A/T] NM_080701 TREX2 EXON Missense_L15Q exm1663290 X 152719880 [A/C] NR_073156,NM_017518 HAUS7,HAUS7 EXON Silent,Missense_W349C exm1663292 X 152719921 [T/C] NR_073156,NM_017518 HAUS7,HAUS7 EXON Silent,Missense_V336M exm1663305 X 152721073 [T/C] NR_073156,NM_017518 HAUS7,HAUS7 EXON Silent,Missense_R296H exm1663310 X 152721188 [T/C] NR_073156,NM_017518 HAUS7,HAUS7 EXON Silent,Missense_A258T exm1663312 X 152721728 [T/C] NR_073156,NM_017518 HAUS7,HAUS7 EXON Silent,Missense_T244A exm1663315 X 152721811 [C/G] NR_073156,NM_017518 HAUS7,HAUS7 EXON Silent,Missense_S216C exm1663323 X 152722598 [A/G] NR_073156,NM_017518 HAUS7,HAUS7 EXON Silent,Missense_S158L exm1663325 X 152722674 [T/C] NR_073156,NM_017518 HAUS7,HAUS7 EXON Silent,Missense_A133T exm1663368 X 152770258 [C/G] NM_001711 BGN EXON Missense_P57A exm1663373 X 152770714 [A/G] NM_001711 BGN EXON Missense_K86R exm1663383 X 152771533 [T/C] NM_001711 BGN EXON Synonymous_I188I exm1663398 X 152773772 [A/G] NM_001711 BGN EXON Missense_G326R exm1663401 X 152773826 [T/C] NM_001711 BGN EXON Missense_Y344H exm1663409 X 152801712 [A/G] NM_001001344,NM_021949 ATP2B3,ATP2B3 EXON Missense_D3N,Missense_D3N exm1663423 X 152806822 [A/G] NM_001001344,NM_021949 ATP2B3,ATP2B3 EXON Missense_A72T,Missense_A72T exm1663432 X 152807283 [A/G] NM_001001344,NM_021949 ATP2B3,ATP2B3 EXON Missense_R188Q,Missense_R188Q exm1663438 X 152807810 [A/C] NM_001001344,NM_021949 ATP2B3,ATP2B3 EXON Missense_I232L,Missense_I232L exm1663456 X 152814170 [A/G] NM_001001344,NM_021949 ATP2B3,ATP2B3 EXON Missense_G399D,Missense_G399D exm1663469 X 152815107 [G/C] NM_001001344,NM_021949 ATP2B3,ATP2B3 EXON Missense_E497D,Missense_E497D exm1663471 X 152815162 [A/G] NM_001001344,NM_021949 ATP2B3,ATP2B3 EXON Missense_I516V,Missense_I516V exm1663486 X 152818537 [A/G] NM_001001344,NM_021949 ATP2B3,ATP2B3 EXON Missense_R623Q,Missense_R623Q exm1663487 X 152818543 [C/G] NM_001001344,NM_021949 ATP2B3,ATP2B3 EXON Missense_R625P,Missense_R625P exm2273312 X 152818890 [T/G] NM_001001344,NM_021949 ATP2B3,ATP2B3 Silent,Silent exm1663515 X 152822405 [A/G] NM_001001344,NM_021949 ATP2B3,ATP2B3 EXON Missense_R786Q,Missense_R786Q exm1663526 X 152823655 [T/C] NM_001001344,NM_021949 ATP2B3,ATP2B3 EXON Missense_M840T,Missense_M840T exm1663527 X 152823669 [A/G] NM_001001344,NM_021949 ATP2B3,ATP2B3 EXON Missense_V845I,Missense_V845I exm1663551 X 152830457 [A/G] NM_001001344,NM_021949 ATP2B3,ATP2B3 EXON Missense_D1080N,Missense_D1080N exm1663561 X 152835113 [A/G] NM_001001344,NM_021949 ATP2B3,ATP2B3 EXON Silent,Missense_R1132H exm1663562 X 152835116 [A/G] NM_001001344,NM_021949 ATP2B3,ATP2B3 EXON Silent,Missense_R1133Q exm1663566 X 152835175 [A/G] NM_001001344,NM_021949 ATP2B3,ATP2B3 EXON Silent,Missense_A1153T exm1663583 X 152845602 [A/G] NM_001001344,NM_021949 ATP2B3,ATP2B3 EXON Missense_R1170H,Silent exm1663604 X 152860097 [A/G] NM_152274,NM_001130997 FAM58A,FAM58A EXON Missense_P112L,Missense_P112L exm1663632 X 152914765 [T/C] NM_001395 DUSP9 EXON Missense_A151V exm1663646 X 152915113 [A/G] NM_001395 DUSP9 EXON Missense_R267Q exm1663817 X 152969493 [T/C] NM_001256447,NM_001139457,NM_005745,NM_001139441 BCAP31,BCAP31,BCAP31,BCAP31 EXON Missense_N133S,Missense_N200S,Missense_N133S,Missense_N133S exm1663819 X 152969508 [A/G] NM_001256447,NM_001139457,NM_005745,NM_001139441 BCAP31,BCAP31,BCAP31,BCAP31 EXON Missense_T128M,Missense_T195M,Missense_T128M,Missense_T128M exm2207012 X 152986404 [T/C] NM_001256447,NM_001139457,NM_005745,NM_001139441 BCAP31,BCAP31,BCAP31,BCAP31 EXON Missense_R39Q,Missense_R106Q,Missense_R39Q,Missense_R39Q exm1663828 X 152986405 [A/G] NM_001256447,NM_001139457,NM_005745,NM_001139441 BCAP31,BCAP31,BCAP31,BCAP31 EXON Missense_R39W,Missense_R106W,Missense_R39W,Missense_R39W exm1663852 X 152991322 [A/G] NM_000033 ABCD1 EXON Missense_V201M exm1663857 X 152991428 [A/G] NM_000033 ABCD1 EXON Missense_R236H exm2264778 X 153004145 [A/C] NM_000033 ABCD1 Silent exm2248675 X 153008710 [T/C] NM_000033 ABCD1 EXON Missense_A634V exm2248677 X 153008731 [T/G] NM_000033 ABCD1 EXON Missense_G641V exm1663932 X 153030991 [A/G] NM_001163257,NM_005393 PLXNB3,PLXNB3 EXON Silent,Missense_M1V exm1663938 X 153031688 [T/C] NM_001163257,NM_005393 PLXNB3,PLXNB3 EXON Missense_S8L,Silent exm1663946 X 153032365 [A/G] NM_001163257,NM_005393 PLXNB3,PLXNB3 EXON Missense_C51Y,Missense_C28Y exm1663948 X 153032470 [A/G] NM_001163257,NM_005393 PLXNB3,PLXNB3 EXON Missense_R86Q,Missense_R63Q exm1663952 X 153032538 [A/G] NM_001163257,NM_005393 PLXNB3,PLXNB3 EXON Missense_V109M,Missense_V86M exm1663956 X 153032587 [A/G] NM_001163257,NM_005393 PLXNB3,PLXNB3 EXON Missense_R125H,Missense_R102H exm1663960 X 153032658 [A/G] NM_001163257,NM_005393 PLXNB3,PLXNB3 EXON Missense_A149T,Missense_A126T exm2207065 X 153033217 [T/C] NM_001163257,NM_005393 PLXNB3,PLXNB3 EXON Missense_A335V,Missense_A312V exm1664009 X 153033806 [A/G] NM_001163257,NM_005393 PLXNB3,PLXNB3 EXON Missense_V420I,Missense_V397I exm1664034 X 153035610 [A/G] NM_001163257,NM_005393 PLXNB3,PLXNB3 EXON Missense_G588R,Missense_G565R exm1664037 X 153035673 [C/G] NM_001163257,NM_005393 PLXNB3,PLXNB3 EXON Missense_D609H,Missense_D586H exm1664039 X 153035798 [A/G] NM_001163257,NM_005393 PLXNB3,PLXNB3 EXON Missense_V621I,Missense_V598I exm1664040 X 153035807 [T/C] NM_001163257,NM_005393 PLXNB3,PLXNB3 EXON Missense_P624S,Missense_P601S exm1664052 X 153036078 [T/C] NM_001163257,NM_005393 PLXNB3,PLXNB3 EXON Missense_T687I,Missense_T664I exm1664054 X 153036089 [A/G] NM_001163257,NM_005393 PLXNB3,PLXNB3 EXON Missense_A691T,Missense_A668T exm1664055 X 153036095 [A/G] NM_001163257,NM_005393 PLXNB3,PLXNB3 EXON Missense_E693K,Missense_E670K exm1664058 X 153036225 [A/G] NM_001163257,NM_005393 PLXNB3,PLXNB3 EXON Missense_V698M,Missense_V675M exm1664062 X 153036439 [A/G] NM_001163257,NM_005393 PLXNB3,PLXNB3 EXON Missense_H742R,Missense_H719R exm1664079 X 153036971 [T/C] NM_001163257,NM_005393 PLXNB3,PLXNB3 EXON Missense_P816L,Missense_P793L exm1664088 X 153037394 [A/G] NM_001163257,NM_005393 PLXNB3,PLXNB3 EXON Missense_A888T,Missense_A865T exm2207122 X 153037449 [T/C] NM_001163257,NM_005393 PLXNB3,PLXNB3 EXON Missense_S906F,Missense_S883F exm1664117 X 153039151 [A/G] NM_001163257,NM_005393 PLXNB3,PLXNB3 EXON Missense_G1111S,Missense_G1088S exm1664121 X 153039360 [A/G] NM_001163257,NM_005393 PLXNB3,PLXNB3 EXON Missense_R1132Q,Missense_R1109Q exm1664129 X 153039513 [A/G] NM_001163257,NM_005393 PLXNB3,PLXNB3 EXON Missense_R1183H,Missense_R1160H exm1664134 X 153039695 [T/C] NM_001163257,NM_005393 PLXNB3,PLXNB3 EXON Missense_R1215C,Missense_R1192C exm1664153 X 153040406 [T/A] NM_001163257,NM_005393 PLXNB3,PLXNB3 EXON Missense_T1358S,Missense_T1335S exm1664155 X 153040415 [A/G] NM_001163257,NM_005393 PLXNB3,PLXNB3 EXON Missense_E1361K,Missense_E1338K exm1664159 X 153040515 [T/C] NM_001163257,NM_005393 PLXNB3,PLXNB3 EXON Missense_T1394M,Missense_T1371M exm1664163 X 153040708 [A/G] NM_001163257,NM_005393 PLXNB3,PLXNB3 EXON Missense_S1418N,Missense_S1395N exm1664167 X 153040756 [T/C] NM_001163257,NM_005393 PLXNB3,PLXNB3 EXON Missense_A1434V,Missense_A1411V exm1664181 X 153041544 [T/C] NM_001163257,NM_005393 PLXNB3,PLXNB3 EXON Missense_M1558T,Missense_M1535T exm1664189 X 153041854 [A/T] NM_001163257,NM_005393 PLXNB3,PLXNB3 EXON Missense_E1614D,Missense_E1591D exm1664191 X 153041868 [T/A] NM_001163257,NM_005393 PLXNB3,PLXNB3 EXON Missense_V1619E,Missense_V1596E exm1664200 X 153042686 [A/G] NM_001163257,NM_005393 PLXNB3,PLXNB3 EXON Missense_E1674K,Missense_E1651K exm2277418 X 153043031 [A/G] NM_001163257,NM_005393 PLXNB3,PLXNB3 EXON Missense_V1740M,Missense_V1717M exm1664229 X 153043867 [T/C] NM_001163257,NM_005393 PLXNB3,PLXNB3 EXON Missense_R1854C,Missense_R1831C exm1664232 X 153043883 [T/C] NM_001163257,NM_005393 PLXNB3,PLXNB3 EXON Missense_A1859V,Missense_A1836V exm1664262 X 153046995 [A/C] NM_014370,NM_001170761,NM_001170760 SRPK3,SRPK3,SRPK3 EXON Missense_N76H,Missense_N76H,Missense_N76H exm1664266 X 153047199 [T/C] NM_014370,NM_001170761,NM_001170760 SRPK3,SRPK3,SRPK3 EXON Missense_R101C,Missense_R101C,Missense_R101C exm1664269 X 153047239 [A/G] NM_014370,NM_001170761,NM_001170760 SRPK3,SRPK3,SRPK3 EXON Missense_G114E,Missense_G114E,Missense_G114E exm1664275 X 153048304 [A/G] NM_014370,NM_001170761,NM_001170760 SRPK3,SRPK3,SRPK3 EXON Missense_V185M,Missense_V185M,Missense_V185M exm1664288 X 153048534 [T/C] NM_014370,NM_001170761,NM_001170760 SRPK3,SRPK3,SRPK3 EXON Missense_W237R,Missense_W237R,Missense_W237R exm1664370 X 153051344 [A/G] NM_004135,NM_174869 IDH3G,IDH3G EXON Missense_R389W,Silent exm1664371 X 153051356 [T/C] NM_004135,NM_174869 IDH3G,IDH3G EXON Missense_V385I,Silent exm2207238 X 153051846 [A/G] NM_004135,NM_174869 IDH3G,IDH3G EXON Missense_T328I,Missense_T328I exm1664404 X 153055212 [A/G] NM_004135,NM_174869 IDH3G,IDH3G EXON Missense_R101C,Missense_R101C exm1664452 X 153069021 [T/C] NM_032512 PDZD4 EXON Missense_M699I exm1664453 X 153069027 [C/G] NM_032512 PDZD4 EXON Missense_F697L exm1664495 X 153070614 [A/G] NM_032512 PDZD4 EXON Missense_F234L exm1664502 X 153072229 [T/C] NM_032512 PDZD4 EXON Missense_D152N exm1664511 X 153073941 [T/C] NM_032512 PDZD4 EXON Missense_R57Q exm1664547 X 153130543 [C/G] NM_001143963,NM_000425,NM_024003 L1CAM,L1CAM,L1CAM EXON Missense_L953V,Missense_L958V,Missense_L958V exm1664550 X 153130606 [A/G] NM_001143963,NM_000425,NM_024003 L1CAM,L1CAM,L1CAM EXON Missense_R932C,Missense_R937C,Missense_R937C exm1664560 X 153130920 [C/G] NM_001143963,NM_000425,NM_024003 L1CAM,L1CAM,L1CAM EXON Missense_H856Q,Missense_H861Q,Missense_H861Q exm1664573 X 153132233 [T/C] NM_001143963,NM_000425,NM_024003 L1CAM,L1CAM,L1CAM EXON Missense_V763I,Missense_V768I,Missense_V768I exm1664609 X 153135022 [T/C] NM_001143963,NM_000425,NM_024003 L1CAM,L1CAM,L1CAM EXON Missense_R402H,Missense_R407H,Missense_R407H exm1664620 X 153135538 [A/G] NM_001143963,NM_000425,NM_024003 L1CAM,L1CAM,L1CAM EXON Missense_R317W,Missense_R322W,Missense_R322W exm1664648 X 153137751 [T/C] NM_001143963,NM_000425,NM_024003 L1CAM,L1CAM,L1CAM EXON Missense_V81M,Missense_V86M,Missense_V86M exm2248685 X 153138116 [A/C] NM_001143963,NM_000425,NM_024003 L1CAM,L1CAM,L1CAM EXON Missense_R38L,Missense_R43L,Missense_R43L exm1664661 X 153141264 [A/G] NM_001143963,NM_000425,NM_024003 L1CAM,L1CAM,L1CAM EXON Missense_P10S,Missense_P10S,Missense_P10S exm1664727 X 153170618 [T/A] NR_027419,NM_000054,NM_001146151 AVPR2,AVPR2,AVPR2 EXON Silent,Missense_T7S,Missense_T7S exm1664729 X 153170995 [A/G] NR_027419,NM_000054,NM_001146151 AVPR2,AVPR2,AVPR2 EXON Silent,Missense_G12E,Missense_G12E exm1664734 X 153171085 [T/C] NR_027419,NM_000054,NM_001146151 AVPR2,AVPR2,AVPR2 EXON Silent,Missense_A42V,Missense_A42V exm1664742 X 153171150 [T/C] NR_027419,NM_000054,NM_001146151 AVPR2,AVPR2,AVPR2 EXON Silent,Missense_R64W,Missense_R64W exm1664745 X 153171163 [A/G] NR_027419,NM_000054,NM_001146151 AVPR2,AVPR2,AVPR2 EXON Silent,Missense_R68Q,Missense_R68Q exm1664746 X 153171277 [A/G] NR_027419,NM_000054,NM_001146151 AVPR2,AVPR2,AVPR2 EXON Silent,Missense_R106H,Missense_R106H exm1664748 X 153171400 [T/C] NR_027419,NM_000054,NM_001146151 AVPR2,AVPR2,AVPR2 EXON Silent,Missense_A147V,Missense_A147V exm1664762 X 153171619 [T/G] NR_027419,NM_000054,NM_001146151 AVPR2,AVPR2,AVPR2 EXON Silent,Missense_G220V,Missense_G220V exm1664763 X 153171627 [A/G] NR_027419,NM_000054,NM_001146151 AVPR2,AVPR2,AVPR2 EXON Silent,Missense_A223T,Missense_A223T exm1664766 X 153171700 [A/G] NR_027419,NM_000054,NM_001146151 AVPR2,AVPR2,AVPR2 EXON Silent,Missense_R247H,Missense_R247H exm1664770 X 153171714 [T/C] NR_027419,NM_000054,NM_001146151 AVPR2,AVPR2,AVPR2 EXON Silent,Missense_R252W,Missense_R252W exm1664782 X 153171979 [A/G] NR_027419,NM_000054,NM_001146151 AVPR2,AVPR2,AVPR2 EXON Silent,Missense_A305T,Silent exm1664814 X 153173346 [T/C] NM_001666,NM_001164741 ARHGAP4,ARHGAP4 EXON Missense_G893E,Missense_G933E exm2207380 X 153173352 [T/C] NM_001666,NM_001164741 ARHGAP4,ARHGAP4 EXON Missense_G891D,Missense_G931D exm1664821 X 153174574 [A/G] NM_001666,NM_001164741 ARHGAP4,ARHGAP4 EXON Nonsense_R853X,Nonsense_R893X exm2207393 X 153175196 [T/C] NM_001666,NM_001164741 ARHGAP4,ARHGAP4 EXON Missense_G805R,Missense_G845R exm1664856 X 153175676 [A/G] NM_001666,NM_001164741 ARHGAP4,ARHGAP4 EXON Missense_P702L,Missense_P742L exm1664862 X 153175745 [T/C] NM_001666,NM_001164741 ARHGAP4,ARHGAP4 EXON Missense_R679Q,Missense_R719Q exm1664865 X 153175784 [A/G] NM_001666,NM_001164741 ARHGAP4,ARHGAP4 EXON Missense_P666L,Missense_P706L exm1664880 X 153176208 [C/G] NM_001666,NM_001164741 ARHGAP4,ARHGAP4 EXON Missense_L588V,Missense_L628V exm1664892 X 153178209 [A/G] NM_001666,NM_001164741 ARHGAP4,ARHGAP4 EXON Missense_P496L,Missense_P536L exm1664918 X 153184386 [A/G] NM_001666,NM_001164741 ARHGAP4,ARHGAP4 EXON Missense_A311V,Missense_A351V exm1664932 X 153186088 [T/C] NM_001666,NM_001164741 ARHGAP4,ARHGAP4 EXON Missense_V225M,Missense_V225M exm2207426 X 153186225 [A/G] NM_001666,NM_001164741 ARHGAP4,ARHGAP4 EXON Missense_V179A,Missense_V179A exm1664947 X 153186942 [A/G] NM_001666,NM_001164741 ARHGAP4,ARHGAP4 EXON Missense_A104V,Missense_A104V exm2248687 X 153201025 [G/C] NM_002910 RENBP EXON Missense_R361P exm1664998 X 153205575 [T/C] NM_002910 RENBP EXON Missense_A353T exm1665000 X 153206946 [G/C] NM_002910 RENBP EXON Missense_N310K exm1665004 X 153207037 [T/G] NM_002910 RENBP EXON Missense_A280D exm1665017 X 153208333 [T/C] NM_002910 RENBP EXON Missense_A221T exm2207463 X 153208429 [T/C] NM_002910 RENBP EXON Missense_M189V exm1665027 X 153208488 [T/C] NM_002910 RENBP EXON Missense_Q169R exm1665034 X 153209144 [A/G] NM_002910 RENBP EXON Missense_R106W exm1665047 X 153209584 [T/C] NM_002910 RENBP EXON Missense_R54H exm1665053 X 153209869 [T/C] NM_002910 RENBP EXON Missense_D10G exm1665072 X 153216900 [T/C] NM_005334 HCFC1 EXON Missense_M1806I exm2207500 X 153219113 [A/G] NM_005334 HCFC1 EXON Missense_T1481M exm1665114 X 153219691 [T/C] NM_005334 HCFC1 EXON Missense_V1387M exm1665136 X 153219997 [T/C] NM_005334 HCFC1 EXON Missense_V1285M exm1665139 X 153220056 [A/G] NM_005334 HCFC1 EXON Missense_S1265L exm1665143 X 153220155 [T/C] NM_005334 HCFC1 EXON Missense_R1232H exm1665156 X 153220360 [A/G] NM_005334 HCFC1 EXON Missense_S1164P exm1665165 X 153220560 [T/G] NM_005334 HCFC1 EXON Missense_N1097T exm1665169 X 153220639 [T/C] NM_005334 HCFC1 EXON Missense_V1071M exm1665173 X 153220876 [T/C] NM_005334 HCFC1 EXON Missense_A992T exm1665176 X 153220978 [T/C] NM_005334 HCFC1 EXON Missense_T958A exm1665248 X 153247544 [A/C] NM_003492 TMEM187 EXON Missense_H11N exm1665253 X 153247610 [G/C] NM_003492 TMEM187 EXON Missense_V33L exm1665264 X 153247722 [T/C] NM_003492 TMEM187 EXON Missense_S70L exm1665266 X 153247745 [A/G] NM_003492 TMEM187 EXON Missense_M78V exm1665275 X 153247926 [A/G] NM_003492 TMEM187 EXON Missense_R138Q exm1665277 X 153247979 [A/G] NM_003492 TMEM187 EXON Missense_A156T exm1665279 X 153248009 [A/G] NM_003492 TMEM187 EXON Missense_A166T exm1665304 X 153278500 [T/C] NM_001025242,NM_001025243,NM_001569 IRAK1,IRAK1,IRAK1 EXON Missense_V612M,Missense_V563M,Missense_V642M exm1665311 X 153278626 [A/G] NM_001025242,NM_001025243,NM_001569 IRAK1,IRAK1,IRAK1 EXON Missense_R570C,Missense_R521C,Missense_R600C exm1665335 X 153282018 [T/C] NM_001025242,NM_001025243,NM_001569 IRAK1,IRAK1,IRAK1 EXON Missense_G369E,Missense_G369E,Missense_G369E exm1665338 X 153282028 [A/G] NM_001025242,NM_001025243,NM_001569 IRAK1,IRAK1,IRAK1 EXON Missense_R366C,Missense_R366C,Missense_R366C exm1665352 X 153284192 [A/G] NM_001025242,NM_001025243,NM_001569 IRAK1,IRAK1,IRAK1 EXON Missense_F196S,Missense_F196S,Missense_F196S exm1665375 X 153295906 [T/C] NM_004992,NM_001110792 MECP2,MECP2 EXON Missense_R458H,Missense_R470H exm1665377 X 153295949 [T/C] NM_004992,NM_001110792 MECP2,MECP2 EXON Missense_A444T,Missense_A456T exm1665400 X 153296153 [A/G] NM_004992,NM_001110792 MECP2,MECP2 EXON Missense_P376S,Missense_P388S exm1665436 X 153296578 [C/G] NM_004992,NM_001110792 MECP2,MECP2 EXON Missense_A234G,Missense_A246G exm1665439 X 153296596 [G/C] NM_004992,NM_001110792 MECP2,MECP2 EXON Missense_T228S,Missense_T240S exm1665441 X 153296671 [A/G] NM_004992,NM_001110792 MECP2,MECP2 EXON Missense_T203M,Missense_T215M exm1665442 X 153296677 [A/G] NM_004992,NM_001110792 MECP2,MECP2 EXON Missense_A201V,Missense_A213V exm1665444 X 153296689 [A/G] NM_004992,NM_001110792 MECP2,MECP2 EXON Missense_T197M,Missense_T209M exm1665445 X 153296692 [G/C] NM_004992,NM_001110792 MECP2,MECP2 EXON Missense_T196S,Missense_T208S exm1665458 X 153297820 [A/G] NM_004992,NM_001110792 MECP2,MECP2 EXON Missense_P72L,Missense_P84L exm1665510 X 153421877 [A/G] NM_020061 OPN1LW EXON Missense_T285A exm1665589 X 153539290 [A/G] NM_001145933,NM_012253,NM_001145934 TKTL1,TKTL1,TKTL1 EXON Missense_I146V,Missense_I152V,Missense_I96V exm2207678 X 153539340 [G/C] NM_001145933,NM_012253,NM_001145934 TKTL1,TKTL1,TKTL1 EXON Missense_H162Q,Missense_H168Q,Missense_H112Q exm1665609 X 153543608 [A/G] NM_001145933,NM_012253,NM_001145934 TKTL1,TKTL1,TKTL1 EXON Missense_R311K,Missense_R317K,Missense_R261K exm-rs766420 X 153554404 [G/C] NM_001145933,NM_012253,NM_001145934 TKTL1,TKTL1,TKTL1 Silent,Silent,Silent exm1665637 X 153556220 [A/G] NM_001145933,NM_012253,NM_001145934 TKTL1,TKTL1,TKTL1 EXON Missense_K506E,Missense_K512E,Missense_K456E exm1665643 X 153557895 [A/G] NM_001145933,NM_012253,NM_001145934 TKTL1,TKTL1,TKTL1 EXON Missense_V544I,Missense_V550I,Missense_V494I exm1665652 X 153577234 [A/G] NM_001456,NM_001110556 FLNA,FLNA EXON Missense_R2635C,Missense_R2643C exm1665657 X 153577326 [T/C] NM_001456,NM_001110556 FLNA,FLNA EXON Missense_R2604Q,Missense_R2612Q exm1665673 X 153577858 [T/C] NM_001456,NM_001110556 FLNA,FLNA EXON Missense_C2535Y,Missense_C2543Y exm1665690 X 153578465 [A/G] NM_001456,NM_001110556 FLNA,FLNA EXON Missense_P2415S,Missense_P2423S exm1665694 X 153578527 [A/G] NM_001456,NM_001110556 FLNA,FLNA EXON Missense_I2394T,Missense_I2402T exm1665712 X 153581011 [A/C] NM_001456,NM_001110556 FLNA,FLNA EXON Missense_G2130C,Missense_G2138C exm1665715 X 153581029 [T/C] NM_001456,NM_001110556 FLNA,FLNA EXON Missense_V2124M,Missense_V2132M exm1665727 X 153581714 [A/G] NM_001456,NM_001110556 FLNA,FLNA EXON Missense_S1983L,Missense_S1991L exm1665750 X 153583007 [T/C] NM_001456,NM_001110556 FLNA,FLNA EXON Missense_A1756T,Missense_A1764T exm1665751 X 153583046 [A/G] NM_001456,NM_001110556 FLNA,FLNA EXON Missense_P1743S,Missense_P1751S exm1665769 X 153587375 [T/C] NM_001456,NM_001110556 FLNA,FLNA EXON Missense_Q1484R,Missense_Q1484R exm1665778 X 153587999 [T/C] NM_001456,NM_001110556 FLNA,FLNA EXON Missense_D1332G,Missense_D1332G exm1665806 X 153588742 [T/C] NM_001456,NM_001110556 FLNA,FLNA EXON Missense_A1141T,Missense_A1141T exm1665818 X 153589848 [A/G] NM_001456,NM_001110556 FLNA,FLNA EXON Missense_S1012L,Missense_S1012L exm1665821 X 153590137 [T/C] NM_001456,NM_001110556 FLNA,FLNA EXON Missense_V949I,Missense_V949I exm1665825 X 153590448 [T/C] NM_001456,NM_001110556 FLNA,FLNA EXON Missense_V909I,Missense_V909I exm1665827 X 153590657 [T/C] NM_001456,NM_001110556 FLNA,FLNA EXON Missense_H870R,Missense_H870R exm1665833 X 153590902 [A/G] NM_001456,NM_001110556 FLNA,FLNA EXON Missense_P817S,Missense_P817S exm1665841 X 153591123 [T/G] NM_001456,NM_001110556 FLNA,FLNA EXON Missense_N770K,Missense_N770K exm1665865 X 153593210 [T/C] NM_001456,NM_001110556 FLNA,FLNA EXON Missense_G603R,Missense_G603R exm1665877 X 153593616 [A/G] NM_001456,NM_001110556 FLNA,FLNA EXON Missense_R527C,Missense_R527C exm1665889 X 153594535 [A/G] NM_001456,NM_001110556 FLNA,FLNA EXON Missense_T429M,Missense_T429M exm1665900 X 153594784 [T/C] NM_001456,NM_001110556 FLNA,FLNA EXON Missense_V374M,Missense_V374M exm2273313 X 153598413 [T/C] NM_001456,NM_001110556 FLNA,FLNA Silent,Silent exm1665951 X 153608355 [A/G] NM_000117 EMD EXON Missense_D81N exm1665954 X 153608600 [A/G] NM_000117 EMD EXON Missense_N91S exm1665961 X 153609141 [T/C] NM_000117 EMD EXON Missense_S143F exm2248695 X 153609158 [G/C] NM_000117 EMD EXON Missense_D149H exm1665964 X 153609258 [A/G] NM_000117 EMD EXON Missense_G156S exm1665976 X 153609400 [A/G] NM_000117 EMD EXON Missense_R203H exm1665977 X 153609438 [A/G] NM_000117 EMD EXON Missense_G216R exm1666011 X 153631119 [T/C] NM_001009932,NM_001009934,NM_001009933,NM_006730 DNASE1L1,DNASE1L1,DNASE1L1,DNASE1L1 EXON Missense_V280I,Missense_V280I,Missense_V280I,Missense_V280I exm1666013 X 153631130 [T/C] NM_001009932,NM_001009934,NM_001009933,NM_006730 DNASE1L1,DNASE1L1,DNASE1L1,DNASE1L1 EXON Missense_Q276R,Missense_Q276R,Missense_Q276R,Missense_Q276R exm1666019 X 153631476 [T/C] NM_001009932,NM_001009934,NM_001009933,NM_006730 DNASE1L1,DNASE1L1,DNASE1L1,DNASE1L1 EXON Missense_R194H,Missense_R194H,Missense_R194H,Missense_R194H exm1666029 X 153631911 [T/C] NM_001009932,NM_001009934,NM_001009933,NM_006730 DNASE1L1,DNASE1L1,DNASE1L1,DNASE1L1 EXON Missense_V122I,Missense_V122I,Missense_V122I,Missense_V122I exm1666034 X 153633187 [A/G] NM_001009932,NM_001009934,NM_001009933,NM_006730 DNASE1L1,DNASE1L1,DNASE1L1,DNASE1L1 EXON Missense_T98M,Missense_T98M,Missense_T98M,Missense_T98M exm1666036 X 153633336 [T/C] NM_001009932,NM_001009934,NM_001009933,NM_006730 DNASE1L1,DNASE1L1,DNASE1L1,DNASE1L1 EXON Missense_R75Q,Missense_R75Q,Missense_R75Q,Missense_R75Q exm1666048 X 153633869 [T/C] NM_001009932,NM_001009934,NM_001009933,NM_006730 DNASE1L1,DNASE1L1,DNASE1L1,DNASE1L1 EXON Missense_N14S,Missense_N14S,Missense_N14S,Missense_N14S exm2207870 X 153633896 [A/G] NM_001009932,NM_001009934,NM_001009933,NM_006730 DNASE1L1,DNASE1L1,DNASE1L1,DNASE1L1 EXON Missense_T5I,Missense_T5I,Missense_T5I,Missense_T5I exm2207891 X 153649058 [T/C] NM_181312,NM_181313,NM_181311,NM_000116,NR_024048 TAZ,TAZ,TAZ,TAZ,TAZ EXON Missense_A240V,Missense_A210V,Missense_A224V,Missense_A254V,Silent exm1666086 X 153657397 [G/C] NM_001183 ATP6AP1 EXON Missense_D55E exm1666088 X 153657458 [A/G] NM_001183 ATP6AP1 EXON Missense_T76A exm1666099 X 153660231 [A/G] NM_001183 ATP6AP1 EXON Missense_S115N exm1666100 X 153660248 [C/G] NM_001183 ATP6AP1 EXON Missense_E121Q exm1666109 X 153660787 [A/G] NM_001183 ATP6AP1 EXON Missense_R180H exm1666126 X 153663810 [A/C] NM_001183 ATP6AP1 EXON Missense_T388P exm1666193 X 153674876 [T/C] NM_004699 FAM50A EXON Missense_A137V exm1666230 X 153688579 [A/G] NM_017514 PLXNA3 EXON Missense_G19D exm1666231 X 153688594 [A/G] NM_017514 PLXNA3 EXON Missense_R24H exm1666233 X 153688602 [A/G] NM_017514 PLXNA3 EXON Missense_V27M exm1666234 X 153688618 [T/C] NM_017514 PLXNA3 EXON Missense_T32M exm1666239 X 153688695 [T/C] NM_017514 PLXNA3 EXON Missense_P58S exm1666241 X 153688710 [G/C] NM_017514 PLXNA3 EXON Missense_L63V exm1666242 X 153688713 [T/C] NM_017514 PLXNA3 EXON Missense_R64W exm1666247 X 153688749 [T/C] NM_017514 PLXNA3 EXON Missense_R76C exm1666251 X 153688789 [A/G] NM_017514 PLXNA3 EXON Missense_R89H exm1666255 X 153688837 [T/C] NM_017514 PLXNA3 EXON Missense_A105V exm1666256 X 153688842 [T/C] NM_017514 PLXNA3 EXON Missense_R107C exm1666257 X 153688843 [A/G] NM_017514 PLXNA3 EXON Missense_R107H exm1666263 X 153688932 [T/C] NM_017514 PLXNA3 EXON Missense_R137C exm1666281 X 153689101 [T/C] NM_017514 PLXNA3 EXON Missense_A193V exm1666283 X 153689117 [T/C] NM_017514 PLXNA3 EXON Synonymous_L198L exm1666287 X 153689529 [A/G] NM_017514 PLXNA3 EXON Missense_G229S exm1666297 X 153689602 [T/C] NM_017514 PLXNA3 EXON Missense_A253V exm1666310 X 153689713 [A/G] NM_017514 PLXNA3 EXON Missense_R290H exm1666317 X 153689790 [A/G] NM_017514 PLXNA3 EXON Missense_V316I exm1666320 X 153689826 [T/C] NM_017514 PLXNA3 EXON Missense_R328W exm1666322 X 153689842 [A/G] NM_017514 PLXNA3 EXON Missense_R333Q exm1666326 X 153689893 [A/G] NM_017514 PLXNA3 EXON Missense_R350Q exm1666330 X 153689978 [T/C] NM_017514 PLXNA3 EXON Synonymous_T378T exm1666335 X 153690537 [A/G] NM_017514 PLXNA3 EXON Missense_E402K exm1666338 X 153690582 [A/G] NM_017514 PLXNA3 EXON Missense_V417M exm1666340 X 153690588 [A/G] NM_017514 PLXNA3 EXON Missense_A419T exm1666341 X 153690601 [A/G] NM_017514 PLXNA3 EXON Missense_R423H exm1666346 X 153690631 [A/G] NM_017514 PLXNA3 EXON Missense_R433H exm1666348 X 153690647 [C/G] NM_017514 PLXNA3 EXON Missense_K438N exm1666360 X 153691996 [A/G] NM_017514 PLXNA3 EXON Missense_G504R exm1666367 X 153692374 [A/G] NM_017514 PLXNA3 EXON Missense_R543Q exm1666368 X 153692380 [A/G] NM_017514 PLXNA3 EXON Missense_R545Q exm1666372 X 153692506 [A/G] NM_017514 PLXNA3 EXON Missense_V560I exm1666378 X 153692561 [T/C] NM_017514 PLXNA3 EXON Missense_A578V exm1666386 X 153692834 [A/G] NM_017514 PLXNA3 EXON Missense_V640I exm1666472 X 153695964 [T/C] NM_017514 PLXNA3 EXON Missense_S1173L exm1666484 X 153696236 [A/G] NM_017514 PLXNA3 EXON Missense_V1238M exm1666498 X 153696514 [A/G] NM_017514 PLXNA3 EXON Missense_V1304M exm1666500 X 153696518 [A/G] NM_017514 PLXNA3 EXON Missense_R1305H exm2208029 X 153696683 [A/G] NM_017514 PLXNA3 EXON Missense_G1334E exm1666511 X 153696794 [T/C] NM_017514 PLXNA3 EXON Missense_A1371V exm1666537 X 153698458 [A/G] NM_017514 PLXNA3 EXON Missense_R1645H exm1666561 X 153700982 [A/G] NM_017514 PLXNA3 EXON Missense_R1857Q exm2208058 X 153701011 [A/G] NM_017514 PLXNA3 EXON Missense_V1867M exm2208065 X 153706320 [T/C] NM_006014 LAGE3 EXON Missense_R132Q exm2208066 X 153706324 [T/C] NM_006014 LAGE3 EXON Missense_V131M exm2248701 X 153706353 [A/G] NM_006014 LAGE3 EXON Missense_I121T exm1666575 X 153706746 [T/G] NM_006014 LAGE3 EXON Missense_L65I exm1666611 X 153715988 [A/G] NM_001142391,NM_001142392,NM_019848 SLC10A3,SLC10A3,SLC10A3 EXON Missense_A402V,Missense_A431V,Missense_A431V exm1666618 X 153716144 [A/G] NM_001142391,NM_001142392,NM_019848 SLC10A3,SLC10A3,SLC10A3 EXON Missense_A350V,Missense_A379V,Missense_A379V exm1666620 X 153716220 [T/C] NM_001142391,NM_001142392,NM_019848 SLC10A3,SLC10A3,SLC10A3 EXON Missense_V325I,Missense_V354I,Missense_V354I exm1666639 X 153716736 [T/C] NM_001142391,NM_001142392,NM_019848 SLC10A3,SLC10A3,SLC10A3 EXON Missense_A153T,Missense_A182T,Missense_A182T exm1666701 X 153741167 [T/C] NM_001171132,NM_001171134,NM_001171133,NM_021806,NR_033237 FAM3A,FAM3A,FAM3A,FAM3A,FAM3A EXON Missense_R36H,Missense_R36H,Silent,Missense_R36H,Silent exm1666726 X 153761160 [C/G] NM_000402,NM_001042351 G6PD,G6PD EXON Missense_D380H,Missense_D350H exm1666732 X 153761240 [A/G] NM_000402,NM_001042351 G6PD,G6PD EXON Missense_L353P,Missense_L323P exm1666739 X 153761811 [C/G] NM_000402,NM_001042351 G6PD,G6PD EXON Missense_D312H,Missense_D282H exm1666749 X 153762634 [A/G] NM_000402,NM_001042351 G6PD,G6PD EXON Missense_S218F,Missense_S188F exm1666751 X 153762655 [T/A] NM_000402,NM_001042351 G6PD,G6PD EXON Missense_D211V,Missense_D181V exm1666761 X 153763557 [T/C] NM_000402,NM_001042351 G6PD,G6PD EXON Missense_R134H,Missense_R104H exm1666767 X 153764217 [T/C] NM_000402,NM_001042351 G6PD,G6PD EXON Missense_V98M,Missense_V68M exm1666769 X 153770497 [A/G] NM_000402,NM_001042351,NM_001099856 G6PD,G6PD,IKBKG EXON Silent,Silent,Missense_V7M exm2248707 X 153774337 [A/C] NM_000402,NM_001042351,NM_001099856 G6PD,G6PD,IKBKG EXON Missense_V42L,Missense_V12L,Silent exm1666786 X 153780386 [A/G] NM_001099856,NM_001099857,NM_001145255,NM_003639 IKBKG,IKBKG,IKBKG,IKBKG EXON Missense_E125K,Missense_E57K,Missense_E57K,Missense_E57K exm1666830 X 153880880 [C/G] NM_020994,NM_172377 CTAG2,CTAG2 EXON Missense_P99A,Missense_P99A exm1666831 X 153880882 [A/G] NM_020994,NM_172377 CTAG2,CTAG2 EXON Missense_S98L,Missense_S98L exm1666832 X 153880895 [T/C] NM_020994,NM_172377 CTAG2,CTAG2 EXON Missense_M94V,Missense_M94V exm1666837 X 153881546 [T/C] NM_020994,NM_172377 CTAG2,CTAG2 EXON Missense_R82G,Missense_R82G exm1666838 X 153881552 [T/C] NM_020994,NM_172377 CTAG2,CTAG2 EXON Missense_A80T,Missense_A80T exm1666855 X 153908497 [G/C] NM_080612,NM_001081573 GAB3,GAB3 EXON Missense_S519T,Missense_S520T exm1666862 X 153925413 [A/G] NM_080612,NM_001081573 GAB3,GAB3 EXON Missense_V473A,Missense_V474A exm1666877 X 153940695 [A/G] NM_080612,NM_001081573 GAB3,GAB3 EXON Missense_S292F,Missense_S293F exm1666880 X 153940861 [A/G] NM_080612,NM_001081573 GAB3,GAB3 EXON Missense_P237S,Missense_P238S exm1666894 X 153944424 [T/C] NM_080612,NM_001081573 GAB3,GAB3 EXON Missense_V85M,Missense_V85M exm-rs2664170 X 153945602 [A/G] NM_080612,NM_001081573 GAB3,GAB3 Silent,Silent exm1666912 X 153997446 [A/C] NM_001142463,NM_001363 DKC1,DKC1 EXON Missense_H259P,Missense_H259P exm1666914 X 153997508 [A/C] NM_001142463,NM_001363 DKC1,DKC1 EXON Missense_S280R,Missense_S280R exm1666932 X 154004579 [A/G] NM_001142463,NM_001363 DKC1,DKC1 EXON Missense_G481R,Missense_G486R exm1666964 X 154014516 [T/A] NM_002436,NM_001166460,NM_001166462,NM_001166461 MPP1,MPP1,MPP1,MPP1 EXON Missense_S214T,Missense_S197T,Missense_S184T,Missense_S194T exm1666970 X 154018249 [T/C] NM_002436,NM_001166460,NM_001166462,NM_001166461 MPP1,MPP1,MPP1,MPP1 EXON Missense_S154G,Missense_S137G,Missense_S124G,Missense_S154G exm1666984 X 154020482 [A/C] NM_002436,NM_001166460,NM_001166462,NM_001166461 MPP1,MPP1,MPP1,MPP1 EXON Missense_V61F,Missense_V61F,Missense_V31F,Missense_V61F exm1666992 X 154033602 [A/G] NM_002436,NM_001166460,NM_001166462,NM_001166461 MPP1,MPP1,MPP1,MPP1 EXON Missense_T16M,Missense_T16M,Silent,Missense_T16M exm1666993 X 154033612 [T/C] NM_002436,NM_001166460,NM_001166462,NM_001166461 MPP1,MPP1,MPP1,MPP1 EXON Missense_S13G,Missense_S13G,Silent,Missense_S13G exm1666998 X 154059109 [A/G] NM_001162936 SMIM9 EXON Missense_I8T exm1667005 X 154088838 [T/C] NM_019863,NM_000132 F8,F8 EXON Missense_M122V,Missense_M2257V exm1667023 X 154132750 [C/G] NM_000132 F8 EXON Missense_T1879S exm1667028 X 154134775 [T/G] NM_000132 F8 EXON Missense_P1765T exm1667034 X 154157087 [A/G] NM_000132 F8 EXON Missense_P1660S exm1667050 X 154157732 [A/G] NM_000132 F8 EXON Missense_S1445P exm1667057 X 154158085 [A/G] NM_000132 F8 EXON Missense_T1327M exm1667059 X 154158180 [G/C] NM_000132 F8 EXON Missense_N1295K exm1667063 X 154158229 [T/C] NM_000132 F8 EXON Missense_R1279K exm1667066 X 154158285 [G/C] NM_000132 F8 EXON Missense_D1260E exm1667081 X 154158802 [A/G] NM_000132 F8 EXON Missense_T1088I exm1667082 X 154158829 [T/C] NM_000132 F8 EXON Missense_R1079K exm1667087 X 154159071 [A/C] NM_000132 F8 EXON Missense_H998Q exm1667095 X 154159612 [A/G] NM_000132 F8 EXON Missense_T818I exm2248710 X 154159682 [T/C] NM_000132 F8 EXON Missense_R795G exm1667115 X 154189379 [T/C] NM_000132 F8 EXON Missense_R503H exm1667119 X 154194301 [A/G] NM_000132 F8 EXON Missense_H463Y exm1667129 X 154194908 [T/C] NM_000132 F8 EXON Missense_R355Q exm1667132 X 154215539 [T/C] NM_000132 F8 EXON Missense_I215V exm1667169 X 154290120 [A/G] NM_001018024 CMC4 EXON Missense_X69Q exm2208332 X 154290218 [T/C] NM_001018024 CMC4 EXON Missense_R36H exm1667187 X 154305469 [A/G] NM_001018055,NM_001242640,NM_024332 BRCC3,BRCC3,BRCC3 EXON Missense_I74V,Missense_I75V,Missense_I74V exm2262777 X 154416937 [A/G] exm1667212 X 154456747 [A/G] NM_003372 VBP1 EXON Missense_M123V exm2273220 X 154468825 [T/C] exm2277421 X 154528171 [T/C] NM_001289 CLIC2 EXON Missense_V74M exm1667274 X 154736688 [A/G] NM_018196,NM_001184797 TMLHE,TMLHE EXON Missense_F289S,Missense_F289S exm2208375 X 154736695 [T/C] NM_018196,NM_001184797 TMLHE,TMLHE EXON Missense_E287K,Missense_E287K exm1667280 X 154741388 [T/G] NM_018196,NM_001184797 TMLHE,TMLHE EXON Missense_T235N,Missense_T235N exm1667288 X 154743884 [A/C] NM_018196,NM_001184797 TMLHE,TMLHE EXON Missense_V134G,Missense_V134G exm1667296 X 154754255 [T/C] NM_018196,NM_001184797 TMLHE,TMLHE EXON Missense_V74I,Missense_V74I exm1667297 X 154754266 [T/C] NM_018196,NM_001184797 TMLHE,TMLHE EXON Missense_R70H,Missense_R70H exm1667298 X 154754267 [A/G] NM_018196,NM_001184797 TMLHE,TMLHE EXON Missense_R70C,Missense_R70C exm1667299 X 154754273 [T/C] NM_018196,NM_001184797 TMLHE,TMLHE EXON Missense_V68M,Missense_V68M exm2273221 X 155009856 [T/C] NM_005840 SPRY3 EXON Silent exm1667344 X 155127801 [A/C] NM_001185183,NM_005638,NR_033715,NR_033714,NM_001145149 VAMP7,VAMP7,VAMP7,VAMP7,VAMP7 EXON Missense_N77T,Missense_N77T,Silent,Silent,Missense_N36T exm1667350 X 155130198 [T/C] NM_001185183,NM_005638,NR_033715,NR_033714,NM_001145149 VAMP7,VAMP7,VAMP7,VAMP7,VAMP7 EXON Missense_M127T,Missense_M127T,Silent,Silent,Missense_M86T exm1667351 X 155130227 [A/C] NM_001185183,NM_005638,NR_033715,NR_033714,NM_001145149 VAMP7,VAMP7,VAMP7,VAMP7,VAMP7 EXON Missense_K137Q,Missense_K137Q,Silent,Silent,Missense_K96Q exm1667356 X 155169436 [T/C] NM_001185183,NM_005638,NR_033715,NR_033714,NM_001145149 VAMP7,VAMP7,VAMP7,VAMP7,VAMP7 EXON Missense_Y169H,Synonymous_I191I,Silent,Silent,Synonymous_I150I exm1667357 X 155169440 [A/G] NM_001185183,NM_005638,NR_033715,NR_033714,NM_001145149 VAMP7,VAMP7,VAMP7,VAMP7,VAMP7 EXON Missense_H170R,Missense_I193V,Silent,Silent,Missense_I152V exm1667360 X 155169449 [A/G] NM_001185183,NM_005638,NR_033715,NR_033714,NM_001145149 VAMP7,VAMP7,VAMP7,VAMP7,VAMP7 EXON Missense_R173H,Missense_V196I,Silent,Silent,Missense_V155I exm1667363 X 155171552 [T/C] NM_001185183,NM_005638,NR_033715,NR_033714,NM_001145149 VAMP7,VAMP7,VAMP7,VAMP7,VAMP7 EXON Missense_H178Y,Synonymous_F200F,Silent,Silent,Synonymous_F159F exm1667365 X 155171702 [A/G] NM_001185183,NM_005638,NR_033715,NR_033714,NM_001145149 VAMP7,VAMP7,VAMP7,VAMP7,VAMP7 EXON Missense_R228G,Silent,Silent,Silent,Silent exm2273222 X 155227607 [T/G] NM_176786,NM_002186 IL9R,IL9R Silent,Silent exm-rs35284970 Y 2734854 [T/C] NM_001008 RPS4Y1 EXON Synonymous_S237S exm2263269 Y 2762217 [T/C] exm1667487 Y 2829379 [T/C] NM_001145276,NM_003411,NM_001145275 ZFY,ZFY,ZFY EXON Silent,Missense_S109F,Missense_S83F exm2263270 Y 2830361 [T/C] NM_001145276,NM_003411,NM_001145275 ZFY,ZFY,ZFY Silent,Silent,Silent exm1667504 Y 3447754 [T/G] NM_139214 TGIF2LY EXON Missense_C157G exm1667508 Y 3447826 [A/G] NM_139214 TGIF2LY EXON Missense_R181G exm2263276 Y 4049476 [T/C] exm2263278 Y 4627631 [T/C] exm2263279 Y 4862861 [T/C] exm1667537 Y 4968368 [T/G] NM_032971,NM_032972,NM_032973 PCDH11Y,PCDH11Y,PCDH11Y EXON Missense_V906F,Missense_V917F,Missense_V917F exm1667541 Y 4968655 [T/G] NM_032971,NM_032972,NM_032973 PCDH11Y,PCDH11Y,PCDH11Y EXON Missense_N1001K,Missense_N1012K,Missense_N1012K exm2263280 Y 5021118 [A/G] NM_032973 PCDH11Y Silent exm2263281 Y 5646731 [A/G] exm2263282 Y 5905252 [A/G] exm-rs9785971 Y 6753511 [A/G] exm2263283 Y 6813344 [A/G] NM_033284,NM_134258,NM_134259 TBL1Y,TBL1Y,TBL1Y Silent,Silent,Silent exm2263284 Y 6848390 [T/C] NM_033284,NM_134258,NM_134259 TBL1Y,TBL1Y,TBL1Y Silent,Silent,Silent exm-rs1865680 Y 6868118 [A/G] NM_033284,NM_134258,NM_134259 TBL1Y,TBL1Y,TBL1Y Silent,Silent,Silent exm1667582 Y 6931957 [T/G] NM_033284,NM_134258,NM_134259 TBL1Y,TBL1Y,TBL1Y EXON Missense_S75I,Missense_S75I,Missense_S75I exm1667591 Y 6932171 [G/C] NM_033284,NM_134258,NM_134259 TBL1Y,TBL1Y,TBL1Y EXON Missense_E146D,Missense_E146D,Missense_E146D exm1667598 Y 6938814 [T/G] NM_033284,NM_134258,NM_134259 TBL1Y,TBL1Y,TBL1Y EXON Missense_G215V,Missense_G215V,Missense_G215V exm2263287 Y 6991809 [T/C] exm-rs34001725 Y 7246726 [T/C] NR_028062 PRKY EXON Silent exm2263290 Y 7400450 [T/C] exm2263291 Y 7415837 [A/G] exm-rs16981290 Y 7568568 [A/C] NR_001552 TTTY16 Silent exm2263293 Y 7612356 [A/G] exm-rs7892900 Y 7628484 [T/C] exm2263294 Y 7798049 [T/C] exm-rs7892855 Y 7879415 [A/C] exm2263295 Y 7992792 [A/G] exm2263296 Y 8050318 [A/G] exm2263297 Y 8133670 [T/G] exm2263298 Y 8305045 [T/C] exm2263299 Y 8428729 [T/C] exm-rs9786140 Y 8502236 [A/G] exm-rs34626372 Y 8576009 [A/C] exm2263301 Y 8663396 [A/G] NR_001548 TTTY11 Silent exm2263302 Y 8745230 [A/G] exm-rs16981293 Y 8796078 [T/C] exm2263304 Y 8860575 [T/C] exm-rs34441307 Y 9791250 [A/G] exm-rs7067387 Y 9810794 [T/C] exm2263212 Y 13537032 [T/C] exm2263214 Y 13935399 [T/C] exm2263217 Y 14017534 [T/G] exm2263220 Y 14177422 [T/C] exm2263221 Y 14212169 [T/C] exm-rs7067305 Y 14231292 [A/G] exm2263222 Y 14243433 [A/G] exm-rs35248080 Y 14286528 [A/G] exm2263224 Y 14320358 [T/G] exm-rs34043621 Y 14486667 [T/C] exm-rs2032597 Y 14847792 [A/C] NM_004654 USP9Y Silent exm-rs2032598 Y 14850341 [T/C] NM_004654 USP9Y Silent exm-rs2032599 Y 14851554 [T/C] NM_004654 USP9Y EXON Synonymous_D471D exm1667664 Y 14869183 [T/C] NM_004654 USP9Y EXON Missense_L495P exm1667675 Y 14891535 [T/C] NM_004654 USP9Y EXON Missense_P1036S exm1667677 Y 14898163 [A/G] NM_004654 USP9Y EXON Missense_A1060T exm1667679 Y 14898465 [T/C] NM_004654 USP9Y EXON Missense_A1098V exm-rs34790845 Y 14901633 [T/C] NM_004654 USP9Y Silent exm-rs20321 Y 14902414 [A/G] NM_004654 USP9Y EXON Synonymous_E1212E exm1667683 Y 14902456 [A/G] NM_004654 USP9Y EXON Missense_I1226M exm-rs34442126 Y 14922583 [T/C] NM_004654 USP9Y Silent exm1667692 Y 14928196 [A/G] NM_004654 USP9Y EXON Missense_I1583V exm1667699 Y 14952324 [A/G] NM_004654 USP9Y EXON Missense_M1958V exm-rs2032602 Y 14954280 [T/C] NM_004654 USP9Y EXON Synonymous_P2109P exm1667708 Y 14959017 [A/G] NM_004654 USP9Y EXON Missense_R2305H exm-rs2032604 Y 14969634 [T/G] NM_004654 USP9Y Silent exm2263228 Y 14984187 [A/G] exm-rs9786537 Y 14989721 [G/C] exm-rs8179021 Y 15018582 [T/C] NM_001122665,NM_004660 DDX3Y,DDX3Y Silent,Silent exm-rs9341296 Y 15022707 [T/C] NM_001122665,NM_004660 DDX3Y,DDX3Y Silent,Silent exm-rs2032624 Y 15026424 [A/C] NM_001122665,NM_004660 DDX3Y,DDX3Y Silent,Silent exm1667727 Y 15028176 [G/C] NM_001122665,NM_004660 DDX3Y,DDX3Y EXON Missense_S438T,Missense_S438T exm1667733 Y 15029413 [G/C] NM_001122665,NM_004660 DDX3Y,DDX3Y EXON Missense_S621T,Missense_S621T exm2263231 Y 15311754 [T/G] exm-rs1236440 Y 15333149 [T/C] exm1667739 Y 15417360 [A/G] NR_047646,NR_047636,NR_047600,NR_047635,NR_047601,NR_047602,NR_047603,NR_047604,NR_047637,NR_047628,NR_047605,NR_047596,NM_001258266,NR_047606,NR_047597,NR_047626,NR_047624,NR_047634,NM_001258249,NR_047640,NM_001258259,NR_047647,NM_001258267,NM_001258254,NM_001258268,NM_001258269,NM_001258262,NR_047643,NM_001258264,NR_047639,NM_001258263,NM_001258251,NM_001258261,NR_047607,NM_001258260,NR_047598,NM_007125,NR_047618,NR_047614,NR_047642,NR_047623,NR_047615,NR_047641,NR_047616,NM_001258270,NR_047622,NM_001258258,NM_001258255,NR_047617,NR_047620,NR_047619,NM_001258250,NM_001258257,NM_001258253,NR_047644,NR_047638,NM_001258252,NR_047629,NM_001258256,NR_047608,NR_047599,NR_047609,NR_047610,NR_047611,NR_047621,NR_047612,NR_047645,NM_001258265,NR_047625,NR_047613,NR_047627,NR_047633,NR_047632,NR_047631,NR_047630,NM_182659 UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_L1085F,Silent,Silent,Silent,Silent,Silent,Missense_L1162F,Silent,Missense_L1049F,Silent,Missense_L1065F,Missense_L986F,Missense_L986F,Missense_L1016F,Missense_L1038F,Silent,Missense_L1094F,Silent,Missense_L1065F,Missense_L1081F,Missense_L1107F,Silent,Missense_L1095F,Silent,Missense_L1065F,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_L941F,Silent,Missense_L1117F,Missense_L986F,Silent,Silent,Silent,Missense_L925F,Missense_L941F,Missense_L1081F,Silent,Silent,Missense_L1110F,Silent,Missense_L1110F,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_L982F,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_L1065F exm1667743 Y 15438219 [T/C] NR_047646,NR_047636,NR_047600,NR_047635,NR_047601,NR_047602,NR_047603,NR_047604,NR_047637,NR_047628,NR_047605,NR_047596,NM_001258266,NR_047606,NR_047597,NR_047626,NR_047624,NR_047634,NM_001258249,NR_047640,NM_001258259,NR_047647,NM_001258267,NM_001258254,NM_001258268,NM_001258269,NM_001258262,NR_047643,NM_001258264,NR_047639,NM_001258263,NM_001258251,NM_001258261,NR_047607,NM_001258260,NR_047598,NM_007125,NR_047618,NR_047614,NR_047642,NR_047623,NR_047615,NR_047641,NR_047616,NM_001258270,NR_047622,NM_001258258,NM_001258255,NR_047617,NR_047620,NR_047619,NM_001258250,NM_001258257,NM_001258253,NR_047644,NR_047638,NM_001258252,NR_047629,NM_001258256,NR_047608,NR_047599,NR_047609,NR_047610,NR_047611,NR_047621,NR_047612,NR_047645,NM_001258265,NR_047625,NR_047613,NR_047627,NR_047633,NR_047632,NR_047631,NR_047630,NM_182659,NM_182660 UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_K897R,Silent,Silent,Silent,Silent,Silent,Missense_K949R,Silent,Missense_K836R,Silent,Missense_K852R,Missense_K773R,Missense_K773R,Missense_K803R,Missense_K825R,Silent,Missense_K881R,Silent,Missense_K852R,Missense_K868R,Missense_K894R,Silent,Missense_K882R,Silent,Missense_K852R,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_K728R,Silent,Missense_K904R,Missense_K773R,Silent,Silent,Silent,Missense_K712R,Missense_K728R,Missense_K868R,Silent,Silent,Missense_K897R,Silent,Missense_K897R,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_K769R,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_K852R,Missense_K852R exm-rs2032654 Y 15467824 [A/G] NR_047646,NR_047636,NR_047600,NR_047635,NR_047601,NR_047602,NR_047603,NR_047604,NR_047637,NR_047628,NR_047605,NR_047596,NM_001258266,NR_047606,NR_047597,NR_047626,NR_047624,NR_047634,NM_001258249,NR_047640,NM_001258259,NR_047647,NM_001258267,NM_001258254,NM_001258268,NM_001258269,NM_001258262,NR_047643,NM_001258264,NR_047639,NM_001258263,NM_001258251,NM_001258261,NR_047607,NM_001258260,NR_047598,NM_007125,NR_047618,NR_047614,NR_047642,NR_047623,NR_047615,NR_047641,NR_047616,NM_001258270,NR_047622,NM_001258258,NM_001258255,NR_047617,NR_047620,NR_047619,NM_001258250,NM_001258257,NM_001258253,NR_047644,NR_047638,NM_001258252,NR_047629,NM_001258256,NR_047608,NR_047599,NR_047609,NR_047610,NR_047611,NR_047621,NR_047612,NR_047645,NM_001258265,NR_047625,NR_047613,NR_047627,NR_047633,NR_047632,NR_047631,NR_047630,NM_182659,NM_182660 UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Synonymous_S496S,Silent,Silent,Silent,Silent,Silent,Synonymous_S548S,Silent,Synonymous_S435S,Silent,Synonymous_S451S,Synonymous_S496S,Synonymous_S496S,Synonymous_S526S,Synonymous_S548S,Silent,Synonymous_S480S,Silent,Synonymous_S451S,Synonymous_S451S,Synonymous_S493S,Silent,Synonymous_S481S,Silent,Synonymous_S451S,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Synonymous_S451S,Silent,Synonymous_S503S,Synonymous_S496S,Silent,Silent,Silent,Synonymous_S435S,Synonymous_S451S,Synonymous_S451S,Silent,Silent,Synonymous_S496S,Silent,Synonymous_S496S,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Synonymous_S368S,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Synonymous_S451S,Synonymous_S451S exm-rs9341278 Y 15469724 [A/G] NR_047646,NR_047636,NR_047600,NR_047635,NR_047601,NR_047602,NR_047603,NR_047604,NR_047637,NR_047628,NR_047605,NR_047596,NM_001258266,NR_047606,NR_047597,NR_047626,NR_047624,NR_047634,NM_001258249,NR_047640,NM_001258259,NR_047647,NM_001258267,NM_001258254,NM_001258268,NM_001258269,NM_001258262,NR_047643,NM_001258264,NR_047639,NM_001258263,NM_001258251,NM_001258261,NR_047607,NM_001258260,NR_047598,NM_007125,NR_047618,NR_047614,NR_047642,NR_047623,NR_047615,NR_047641,NR_047616,NM_001258270,NR_047622,NM_001258258,NM_001258255,NR_047617,NR_047620,NR_047619,NM_001258250,NM_001258257,NM_001258253,NR_047644,NR_047638,NM_001258252,NR_047629,NM_001258256,NR_047608,NR_047599,NR_047609,NR_047610,NR_047611,NR_047621,NR_047612,NR_047645,NM_001258265,NR_047625,NR_047613,NR_047627,NR_047633,NR_047632,NR_047631,NR_047630,NM_182659,NM_182660 UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm-rs2032658 Y 15581983 [A/G] NR_047646,NR_047636,NR_047600,NR_047635,NR_047601,NR_047602,NR_047603,NR_047604,NR_047637,NR_047628,NR_047605,NR_047596,NM_001258266,NR_047606,NR_047597,NR_047626,NR_047624,NR_047634,NM_001258249,NR_047640,NM_001258259,NR_047647,NM_001258267,NM_001258254,NM_001258268,NM_001258269,NM_001258262,NR_047643,NM_001258264,NR_047639,NM_001258263,NM_001258251,NM_001258261,NR_047607,NM_001258260,NR_047598,NM_007125,NR_047618,NR_047614,NR_047642,NR_047623,NR_047615,NR_047641,NR_047616,NM_001258270,NR_047622,NM_001258258,NM_001258255,NR_047617,NR_047620,NR_047619,NM_001258250,NM_001258257,NM_001258253,NR_047644,NR_047638,NM_001258252,NR_047629,NM_001258256,NR_047608,NR_047599,NR_047609,NR_047610,NR_047611,NR_047621,NR_047612,NR_047645,NM_001258265,NR_047625,NR_047613,NR_047627,NR_047633,NR_047632,NR_047631,NR_047630,NM_182659,NM_182660 UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY,UTY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm-rs34134567 Y 15604899 [T/C] exm-rs7892889 Y 15668070 [A/G] exm-rs9786274 Y 15810962 [T/G] exm2263233 Y 15900954 [T/C] exm2263234 Y 15951058 [T/G] exm2263236 Y 16283803 [A/G] exm-rs17222146 Y 16315153 [T/C] exm2263237 Y 16431460 [A/G] exm2263238 Y 16758224 [T/G] NM_001206850,NR_046355,NM_014893,NR_028319,NM_001164238 NLGN4Y,NLGN4Y,NLGN4Y,NLGN4Y,NLGN4Y Silent,Silent,Silent,Silent,Silent exm-rs17222279 Y 16839499 [A/G] NM_001206850,NR_046355,NM_014893,NR_028319,NM_001164238 NLGN4Y,NLGN4Y,NLGN4Y,NLGN4Y,NLGN4Y Silent,Silent,Silent,Silent,Silent exm2263239 Y 16903208 [A/G] NM_001206850,NR_046355,NM_014893,NR_028319 NLGN4Y,NLGN4Y,NLGN4Y,NLGN4Y Silent,Silent,Silent,Silent exm1667799 Y 16952438 [T/C] NM_001206850,NR_046355,NM_014893,NR_028319 NLGN4Y,NLGN4Y,NLGN4Y,NLGN4Y EXON Missense_R415W,Silent,Missense_R583W,Silent exm2263240 Y 17304846 [A/C] exm2263241 Y 17558118 [T/C] exm2263242 Y 17592370 [A/C] exm2263243 Y 17601992 [T/C] exm-rs9786076 Y 17844018 [T/C] exm-rs35251548 Y 17937365 [A/G] exm-rs34986875 Y 18077016 [T/C] exm-rs1469371 Y 18167479 [A/G] exm-rs13304625 Y 19077409 [A/G] exm-rs3894 Y 19096363 [A/G] exm1667836 Y 21154466 [T/A] NR_001543,NM_013230 TTTY14,CD24 EXON Silent,Missense_T44S exm-rs35199432 Y 21253443 [A/G] exm2263264 Y 21653414 [T/C] NR_002923,NR_033732 BCORP1,BCORP1 Silent,Silent exm-rs3905 Y 21722268 [T/C] exm-rs3900 Y 21730257 [C/G] NR_045129,NR_045128 TXLNG2P,TXLNG2P Silent,Silent exm-rs3911 Y 21733454 [A/G] NR_045129,NR_045128 TXLNG2P,TXLNG2P Silent,Silent exm1667844 Y 21751449 [T/C] NR_045129,NR_045128 TXLNG2P,TXLNG2P EXON Silent,Silent exm-rs9306841 Y 21778998 [G/C] exm-rs2032629 Y 21865821 [A/G] exm-rs2032631 Y 21867787 [A/G] NM_001146706,NM_001146705,NM_004653 KDM5D,KDM5D,KDM5D EXON Silent,Silent,Silent exm1667853 Y 21868068 [T/C] NM_001146706,NM_001146705,NM_004653 KDM5D,KDM5D,KDM5D EXON Missense_R1421Q,Missense_R1509Q,Missense_R1478Q exm1667866 Y 21869908 [T/C] NM_001146706,NM_001146705,NM_004653 KDM5D,KDM5D,KDM5D EXON Missense_R1047Q,Missense_R1135Q,Missense_R1104Q exm-rs2032640 Y 21892572 [T/C] NM_001146706,NM_001146705,NM_004653 KDM5D,KDM5D,KDM5D Silent,Silent,Silent exm-rs2032672 Y 21893881 [A/C] NM_001146706,NM_001146705,NM_004653 KDM5D,KDM5D,KDM5D Silent,Silent,Silent exm-rs2032673 Y 21894058 [T/C] NM_001146706,NM_001146705,NM_004653 KDM5D,KDM5D,KDM5D Silent,Silent,Silent exm-rs2032648 Y 21904023 [T/C] NM_001146706,NM_001146705,NM_004653 KDM5D,KDM5D,KDM5D Silent,Silent,Silent exm-rs34694026 Y 21906607 [T/C] NM_001146706,NM_001146705,NM_004653 KDM5D,KDM5D,KDM5D EXON Silent,Silent,Silent exm-rs2032652 Y 21917313 [T/C] exm-rs34283263 Y 22178569 [A/G] exm-rs2690775 Y 22243566 [T/C] exm-rs9306842 Y 22711460 [A/T] exm-rs9341310 Y 22737801 [T/C] NM_004681 EIF1AY Silent exm-rs9786153 Y 22739367 [T/C] NM_004681 EIF1AY Silent exm-rs13447378 Y 22741740 [G/C] NM_004681 EIF1AY Silent exm-rs13447379 Y 22741799 [A/G] NM_004681 EIF1AY Silent exm-rs9341313 Y 22741818 [T/G] NM_004681 EIF1AY Silent exm-rs13447352 Y 22749853 [A/C] NM_004681 EIF1AY Silent exm-rs13447360 Y 22754671 [D/I] NM_004681 EIF1AY EXON exm-rs35474563 Y 22917995 [T/C] NM_001039567 RPS4Y2 EXON Silent exm-rs2033003 Y 23550924 [A/C] exm2263266 Y 23574525 [T/G] exm-rs13303755 Y 23612197 [T/G] exm-rs34173183 Y 24405862 [T/C] exm-rs41531144 M 217 [T/C] exm-rs41323649 M 228 [A/G] exm2263307 M 285 [T/C] exm-rs41528348 M 295 [T/C] exm2216184 M 418 [T/C] exm-rs3901846 M 499 [A/G] exm2216185 M 606 [A/G] exm2216186 M 629 [T/C] exm2216190 M 709 [A/G] exm2216191 M 710 [T/C] exm2216198 M 921 [T/C] exm2216200 M 951 [A/G] exm2216201 M 961 [T/C] exm2216202 M 1005 [T/C] exm2216203 M 1018 [A/G] exm2216204 M 1048 [T/C] exm2216208 M 1243 [T/C] exm2216209 M 1382 [A/C] exm2216210 M 1393 [A/G] exm2216211 M 1406 [T/C] exm2216212 M 1413 [T/C] exm2216213 M 1438 [A/G] exm2216214 M 1442 [A/G] exm2216216 M 1664 [A/G] exm2216217 M 1694 [T/C] exm2216218 M 1700 [T/C] exm2216219 M 1703 [T/C] exm2216220 M 1706 [T/C] exm2216221 M 1709 [A/G] exm2216222 M 1717 [T/C] exm-rs3928305 M 1719 [A/G] exm2216228 M 1811 [A/G] exm2216231 M 1842 [A/G] exm2216232 M 1888 [A/G] exm2216234 M 2056 [A/G] exm2216238 M 2218 [T/C] exm2216239 M 2259 [T/C] exm2216240 M 2283 [T/C] exm2216241 M 2332 [T/C] exm2216242 M 2352 [T/C] exm2216243 M 2358 [A/G] exm2216244 M 2416 [T/C] exm2216245 M 2417 [G/C] exm2216249 M 2706 [A/G] exm2216250 M 2758 [A/G] exm2216251 M 2768 [A/G] exm2216252 M 2772 [T/C] exm2216254 M 2831 [A/G] exm2216255 M 2885 [T/C] exm2216256 M 3010 [A/G] exm2216257 M 3027 [T/C] exm2216258 M 3116 [T/C] exm2216259 M 3197 [T/C] exm2216260 M 3200 [A/T] exm2216261 M 3206 [T/C] exm2216262 M 3210 [T/C] exm-rs2853516 M 3316 [A/G] exm2216265 M 3338 [T/C] exm2216266 M 3394 [T/C] exm2216267 M 3398 [T/C] exm2216268 M 3434 [A/G] exm2216269 M 3497 [T/C] exm2216271 M 3547 [A/G] exm2263308 M 3736 [A/G] exm2216273 M 3746 [T/C] exm2216274 M 3866 [T/C] exm2216277 M 4021 [A/G] exm2216280 M 4093 [A/G] exm2216281 M 4123 [A/G] exm2216282 M 4129 [A/G] exm2216283 M 4216 [T/C] exm2216284 M 4312 [T/C] exm-rs41456348 M 4336 [T/C] exm2216286 M 4363 [T/C] exm2216291 M 4491 [A/G] exm2216292 M 4561 [T/C] exm2216294 M 4732 [A/G] exm2263338 M 4917 [A/G] exm2216303 M 5331 [A/C] exm-rs3021088 M 5460 [A/G] exm2216317 M 5814 [T/C] exm2216322 M 6253 [T/C] exm2216323 M 6261 [A/G] exm2216324 M 6267 [A/G] exm2216325 M 6480 [A/G] exm2263312 M 6663 [A/G] exm2263313 M 6982 [A/G] exm-rs2015062 M 7028 [T/C] exm2216332 M 7476 [T/C] exm2263318 M 8411 [A/C] exm2216340 M 8414 [T/C] exm2216341 M 8417 [T/C] exm2216342 M 8460 [A/G] exm2216343 M 8478 [T/C] exm2216351 M 8654 [T/C] exm2263319 M 8684 [T/C] exm2263340 M 8701 [A/G] exm2263320 M 8857 [A/G] exm2216358 M 8860 [A/G] exm2216359 M 8869 [A/G] exm2216360 M 8875 [T/C] exm2216361 M 8896 [A/G] exm2216362 M 8923 [A/G] exm2216368 M 9098 [T/C] exm2216369 M 9128 [T/C] exm2216370 M 9142 [A/G] exm-rs2853825 M 9477 [A/G] exm2216375 M 9682 [T/C] exm2263321 M 9804 [A/G] exm2216376 M 9855 [A/G] exm2216377 M 9903 [T/C] exm2216378 M 9966 [A/G] exm2216379 M 10007 [T/C] exm2216380 M 10031 [T/C] exm2263322 M 10034 [T/C] exm2263323 M 10084 [T/C] exm2216384 M 10086 [A/G] exm2216385 M 10143 [A/G] exm2216386 M 10321 [T/C] exm2216387 M 10345 [T/C] exm-rs2853826 M 10398 [A/G] exm2216389 M 10410 [T/C] exm-rs28358279 M 10463 [T/C] exm2216391 M 10609 [T/C] exm2216394 M 11025 [T/C] exm2216396 M 11172 [A/G] exm2216397 M 11177 [T/C] exm2216398 M 11204 [T/C] exm2216399 M 11253 [T/C] exm2216400 M 11696 [A/G] exm2216401 M 11963 [A/G] exm2216402 M 11969 [A/G] exm2216403 M 11984 [T/C] exm2216406 M 12236 [A/G] exm2216407 M 12248 [A/G] exm-rs2853498 M 12308 [A/G] exm2216417 M 12454 [A/G] exm2216418 M 12542 [T/C] exm2263325 M 12820 [A/G] exm2263326 M 12937 [A/G] exm2216420 M 12940 [A/G] exm2216421 M 12950 [A/G] exm2216422 M 13105 [A/G] exm2216423 M 13135 [A/G] exm2216424 M 13276 [A/G] exm2216425 M 13477 [A/G] exm-rs28359178 M 13708 [A/G] exm2263327 M 13780 [A/G] exm2216429 M 13789 [T/C] exm2216430 M 13879 [T/C] exm2216431 M 13880 [A/C] exm2216432 M 13886 [T/C] exm2216433 M 13924 [T/C] exm2216434 M 13933 [A/G] exm2263328 M 13934 [T/C] exm2216436 M 13942 [A/G] exm2216437 M 13958 [C/G] exm2263329 M 13966 [A/G] exm2216439 M 13981 [T/C] exm2216440 M 14000 [T/A] exm2216441 M 14053 [A/G] exm2216442 M 14059 [A/G] exm2216443 M 14148 [A/G] exm2216444 M 14178 [T/C] exm2216445 M 14180 [T/C] exm2216446 M 14258 [A/G] exm2216447 M 14318 [T/C] exm2216448 M 14502 [T/C] exm2263330 M 14687 [A/G] exm-rs28357681 M 14798 [T/C] exm2216456 M 14861 [A/G] exm2216457 M 14927 [A/G] exm2216458 M 14978 [A/G] exm2216459 M 14979 [T/C] exm2216460 M 15038 [A/G] exm2216461 M 15071 [T/C] exm2216462 M 15074 [T/C] exm2216463 M 15077 [A/G] exm2216464 M 15110 [A/G] exm2263332 M 15119 [A/G] exm2216465 M 15204 [T/C] exm-rs2853506 M 15218 [A/G] exm2216467 M 15236 [A/G] exm2216468 M 15257 [A/G] exm2263333 M 15263 [T/C] exm2216469 M 15311 [A/G] exm2216470 M 15314 [A/G] exm2216471 M 15323 [A/G] exm2216472 M 15326 [A/G] exm2216474 M 15402 [T/C] exm2216475 M 15431 [A/G] exm-rs3088309 M 15452 [A/C] exm2216478 M 15479 [T/C] exm2216479 M 15497 [A/G] exm2216481 M 15662 [A/G] exm2216482 M 15672 [T/C] exm2263334 M 15693 [T/C] exm-rs41337244 M 15758 [A/G] exm2216485 M 15812 [A/G] exm2216486 M 15824 [A/G] exm2216487 M 15849 [T/C] exm2216489 M 15860 [A/G] exm2263335 M 15889 [T/C] exm2263341 M 15904 [T/C] exm2216491 M 15905 [T/C] exm2216492 M 15907 [A/G] exm-rs2853510 M 15924 [A/G] exm2216494 M 15927 [A/G] exm2263337 M 15928 [A/G] exm2216495 M 15939 [T/C] exm2263336 M 15940 [T/C] exm2216496 M 15941 [T/C] exm2216497 M 15942 [T/C] exm2216498 M 15946 [T/C] exm2216499 M 15951 [A/G] exm2216500 M 15978 [T/C] exm2216501 M 16017 [T/C] exm-rs41378955 M 16390 [A/G]